Mercurial > repos > proteore > proteore_prot_features
changeset 18:0a9ae3d7dbf2 draft default tip
"planemo upload commit 7afd4b3ee25f024257ccbac6e51076d25b2a04e7"
| author | proteore |
|---|---|
| date | Thu, 20 Aug 2020 03:09:52 -0400 |
| parents | 2952bae8a1ea |
| children | |
| files | add_protein_features.R add_protein_features.xml proteore_nextprot_ref.loc.sample tool-data/nextprot_ref_07-05-2019.tsv tool-data/nextprot_ref_08-10-2018.tsv tool-data/nextprot_ref_31-07-2020.tsv |
| diffstat | 6 files changed, 61012 insertions(+), 40681 deletions(-) [+] |
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--- a/add_protein_features.R Fri Jan 24 05:04:15 2020 -0500 +++ b/add_protein_features.R Thu Aug 20 03:09:52 2020 -0400 @@ -48,9 +48,7 @@ --column: the column number which you would like to apply... --header: true/false if your file contains a header --type: the type of input IDs (Uniprot_AC/EntrezID) - --pc_features: IsoPoint,SeqLength,MW - --localization: Chr,SubcellLocations - --diseases_info: Diseases + --pc_features: IsoPoint,SeqLength,MW,Chr,SubcellLocations,Diseases,protein_name,function,post_trans_mod,protein_family,pathway --output: text output filename \n") q(save="no") @@ -122,14 +120,9 @@ # Get information from neXtProt get_nextprot_info <- function(nextprot,input,pc_features,localization,diseases_info){ - if(diseases_info){ - cols = c("NextprotID",pc_features,localization,"Diseases") - } else { - cols = c("NextprotID",pc_features,localization) - } - + cols = c("NextprotID",pc_features) cols=cols[cols!="None"] - info = nextprot[match(input,nextprot$NextprotID),cols] + info = nextprot[match(input,nextprot$NextprotID),intersect(colnames(nextprot),cols)] return(info) } @@ -172,8 +165,6 @@ # Parse arguments id_type = args$type pc_features = strsplit(args$pc_features, ",")[[1]] - localization = strsplit(args$localization, ",")[[1]] - diseases_info = str2bool(args$diseases_info) output = args$output # Change the sample ids if they are Uniprot_AC ids to be able to match them with @@ -191,7 +182,7 @@ if (all(!NextprotID %in% nextprot[,1])){ write.table("None of the input ids can be found in Nextprot",file=output,sep="\t",quote=FALSE,col.names=TRUE,row.names=FALSE) } else { - res <- get_nextprot_info(nextprot,NextprotID,pc_features,localization,diseases_info) + res <- get_nextprot_info(nextprot,NextprotID,pc_features) res = res[!duplicated(res$NextprotID),] output_content = merge(file, res,by.x=ncol,by.y="NextprotID",incomparables = NA,all.x=T) output_content = order_columns(output_content,ncol,id_type,file)
--- a/add_protein_features.xml Fri Jan 24 05:04:15 2020 -0500 +++ b/add_protein_features.xml Thu Aug 20 03:09:52 2020 -0400 @@ -1,4 +1,4 @@ -<tool id="prot_features" name="Add protein features" version="2020.01.23"> +<tool id="prot_features" name="Add protein features" version="2020.08.17"> <description>[neXtProt, Human] </description> <requirements> @@ -19,9 +19,7 @@ #end if --type='$idtype' - --pc_features='$Nextprot_params.pc_features' - --localization='$Nextprot_params.localization' - --diseases_info='$Nextprot_params.diseases_info' + --pc_features='$pc_features' --output='$output' #if 'proteore_nextprot_ref' in str($ref_file).split("/") @@ -63,32 +61,31 @@ </when> </conditional> - <param name="idtype" type="select" label="Type of IDs" multiple="false" optional="false"> - <option value="NextprotID" selected="true">neXtProt IDs</option> - <option value="Uniprot_AC" selected="false">UniProt accession number</option> - </param> - <section name="Nextprot_params" title="Select features (Physico-chemical, localization, disease infiormation)" expanded="True"> - <param name="pc_features" type="select" label="Select information to add to your list" multiple="true" help="" display="checkboxes" optional="false"> - <option value="SeqLength" selected="false">Sequence Length</option> - <option value="MW" selected="false">Molecular Weight</option> - <option value="IsoPoint" selected="false">Isoelectric point</option> - <option value="TMDomains" selected="false">Number of transmembrane domains</option> - <option value="ProteinExistence" selected="false">Protein Existence (evidence score from 1 to 5)</option> - </param> + <param name="idtype" type="select" label="Type of IDs" multiple="false" optional="false"> + <option value="NextprotID" selected="true">neXtProt IDs</option> + <option value="Uniprot_AC" selected="false">UniProt accession number</option> + </param> + <param name="pc_features" type="select" label="Features/Annotation" multiple="true" help="" display="checkboxes" optional="false"> + <option value="ProteinName" selected="false">Protein name</option> + <option value="SeqLength" selected="false">Sequence Length</option> + <option value="MW" selected="false">Molecular Weight</option> + <option value="IsoPoint" selected="false">Isoelectric point</option> + <option value="TMDomains" selected="false">Number of transmembrane domains</option> + <option value="SubcellLocations" selected="false">Subcellular Location</option> + <option value="Diseases" selected="false">Disease information</option> + <option value="Function" selected="false">Protein function</option> + <option value="PostTranslationalModifications" selected="false">Post translational modifications</option> + <option value="ProteinFamily" selected="false">Protein family</option> + <option value="Pathway" selected="false">Pathway(s)</option> + <option value="ProteinExistence" selected="false">Protein Existence (evidence score from 1 to 5)</option> + <option value="Chr" selected="false">Chromosome</option> + </param> - <param name="localization" type="select" label="Localization" multiple="true" help="" display="checkboxes" optional="true"> - <option value="Chr" selected="false">Chromosome</option> - <option value="SubcellLocations" selected="false">Subcellular Location</option> - </param> - - <param name="diseases_info" type="boolean" checked="true" truevalue="true" falsevalue="false" label="Disease information" /> - - </section> - <param name="ref_file" type="select" label="Release of neXtProt reference file to use"> + <param name="ref_file" type="select" label="Release of neXtProt reference file to use"> <options from_data_table="proteore_nextprot_ref"> <filter type="sort_by" column="0"/> </options> - </param> + </param> </inputs> @@ -110,12 +107,7 @@ </conditional> <param name="idtype" value="Uniprot_AC"/> - - <section name="Nextprot_params"> - <param name="pc_features" value="SeqLength,MW,IsoPoint,TMDomains,ProteinExistence"/> - <param name="localization" value="Chr,SubcellLocations"/> - <param name="diseases_info" value="true"/> - </section> + <param name="pc_features" value="SeqLength,MW,IsoPoint,TMDomains,ProteinExistence"/> <param name="ref_file" value="test-data/cached_locally/nextprot_ref_07-05-2019.tsv"/> <output name="output" file="Add_information_from_neXtProt.tsv"/> @@ -126,7 +118,7 @@ **Description** -This tool retrieves annotation (protein features) from the neXtProt database (knowledgebase on human proteins) to enrich your protein IDs list. +This tool retrieves annotation (protein features) from the neXtProt database (knowledgebase on human proteins) to enrich and better inform your protein IDs list. ----- @@ -148,7 +140,11 @@ **Output** -Output is a tabular file containing both original columns and new columns including the annotation requested. +Output is a tabular file containing both original columns and new columns including the annotation requested. Only features/annotations assigned with a "GOLD" quality criterion are considered, otherwise a "NA" value is returned. + +.. class:: warningmark + +"Protein name","Protein function","Post translational modifications","Protein family","Pathway(s)" options will not work will releases older than 08/2020. ----- @@ -158,16 +154,21 @@ neXtProt releases : -- nextProt release 07-05-2019 (release Feb 13, 2019) -- neXtProt release 08-10-2018 (release Feb 21, 2018) +- nextProt release 31-07-2020 (release Feb, 2020) +- nextProt release 07-05-2019 (release Feb, 2019) +- neXtProt release 08-10-2018 (release Feb, 2018) +.. class:: warningmark + +For "Protein function", "Post translational modifications" and "Pathway(s)", only results with gold quality are returned. + ----- .. class:: infomark **Authors** -David Christiany, Lisa Peru, T.P. Lien Nguyen, Florence Combes, Yves Vandenbrouck CEA, INSERM, CNRS, Grenoble-Alpes University, BIG Institute, FR +David Christiany, Lisa Perus, T.P. Lien Nguyen, Florence Combes, Yves Vandenbrouck CEA, INSERM, CNRS, Grenoble-Alpes University, BIG Institute, FR Sandra Dérozier, Olivier Rué, Christophe Caron, Valentin Loux INRA, Paris-Saclay University, MAIAGE Unit, Migale Bioinformatics platform, FR
--- a/proteore_nextprot_ref.loc.sample Fri Jan 24 05:04:15 2020 -0500 +++ b/proteore_nextprot_ref.loc.sample Thu Aug 20 03:09:52 2020 -0400 @@ -1,3 +1,4 @@ #<id> <release> <name> <value> 9979818992 nextprot_ref_08-10-2018 neXtProt release 08-10-2018 tool-data/nextprot_ref_08-10-2018.tsv 9979809493 nextprot_ref_07-05-2019 neXtProt release 07-05-2019 tool-data/nextprot_ref_07-05-2019.tsv +9979799269 nextprot_ref_31-07-2020 neXtProt release 31-07-2020 tool-data/nextprot_ref_31-07-2020.tsv
--- a/tool-data/nextprot_ref_07-05-2019.tsv Fri Jan 24 05:04:15 2020 -0500 +++ b/tool-data/nextprot_ref_07-05-2019.tsv Thu Aug 20 03:09:52 2020 -0400 @@ -1,20400 +1,20400 @@ -NextprotID MW SeqLength IsoPoint Chr SubcellLocations Diseases TMDomains ProteinExistence -NX_A0A024RBG1 20434 181 5.99 1 Cytoplasm NA 0 PE1 -NX_A0A075B6H9 12773 119 6.01 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6I0 12814 122 4.33 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6I1 12987 120 5.8 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6I4 12395 117 7.85 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6I9 12468 117 6.69 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6J1 13277 123 4.75 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6J6 12549 115 3.95 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6J9 12412 118 4.66 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6K0 12466 115 4.58 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6K2 12387 115 5.34 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6K4 12441 115 4.72 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6K5 12332 115 6.81 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6K6 13330 122 5.39 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6N1 12769 114 6.53 7 Cell membrane NA 0 PE1 -NX_A0A075B6N2 12175 111 8.52 7 Cell membrane NA 0 PE1 -NX_A0A075B6N3 12929 115 7.68 7 Cell membrane NA 0 PE3 -NX_A0A075B6N4 12983 114 5.91 7 Cell membrane NA 0 PE3 -NX_A0A075B6P5 12957 120 5.61 2 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6Q5 12891 118 7.69 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6R2 12848 117 9.64 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6S2 13143 120 6.53 2 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6S4 12835 117 9.22 2 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6S5 12712 117 8.5 2 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6S6 13215 120 7.79 2 Cell membrane;Secreted NA 0 PE3 -NX_A0A075B6T6 12838 113 6.17 14 Cell membrane NA 0 PE1 -NX_A0A075B6T7 15362 132 9.2 14 Cell membrane NA 0 PE3 -NX_A0A075B6T8 12354 112 4.83 14 Cell membrane NA 0 PE3 -NX_A0A075B6U4 12598 112 8.39 14 Cell membrane NA 0 PE3 -NX_A0A075B6V5 12697 113 6.57 14 Cell membrane NA 0 PE3 -NX_A0A075B6W5 13545 121 8.45 14 Cell membrane NA 0 PE3 -NX_A0A075B6X5 12414 111 5.26 14 Cell membrane NA 0 PE3 -NX_A0A075B6Y3 2097 20 11 14 Cell membrane NA 0 PE4 -NX_A0A075B706 1761 16 8.26 14 Cell membrane NA 0 PE1 -NX_A0A075B759 18197 164 9.43 1 Cytoplasm NA 0 PE3 -NX_A0A075B767 18208 164 9.19 1 Cytoplasm NA 0 PE3 -NX_A0A087WSX0 13162 123 6.69 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A087WSY4 13025 118 9.7 3 Cell membrane;Secreted NA 0 PE1 -NX_A0A087WSY6 12534 115 5.14 2 Cell membrane;Secreted NA 0 PE3 -NX_A0A087WSZ0 12837 117 7.62 2 Cell membrane;Secreted NA 0 PE1 -NX_A0A087WSZ9 12582 112 8.58 14 Cell membrane NA 0 PE3 -NX_A0A087WT01 12043 109 5.7 14 Cell membrane NA 0 PE1 -NX_A0A087WT02 12289 112 5.26 14 Cell membrane NA 0 PE3 -NX_A0A087WT03 12306 109 7.76 14 Cell membrane NA 0 PE1 -NX_A0A087WTH1 11832 108 7.61 16 Membrane NA 2 PE2 -NX_A0A087WTH5 15028 132 8.73 21 Membrane NA 1 PE3 -NX_A0A087WUL8 440408 3843 4.53 1 Cytoplasm NA 0 PE5 -NX_A0A087WV62 12845 115 6.7 7 Cell membrane NA 0 PE3 -NX_A0A087WVF3 62187 549 9.2 17 Cell membrane NA 0 PE2 -NX_A0A087WW87 13310 121 4.43 2 Cell membrane;Secreted NA 0 PE1 -NX_A0A087WX78 41674 387 8.87 18 Nucleus NA 0 PE5 -NX_A0A087WXM9 40829 373 8.65 5 Kinetochore;Centromere NA 0 PE1 -NX_A0A087WXS9 62205 549 9.2 17 Cell membrane NA 0 PE3 -NX_A0A087X0M5 13028 115 9.14 7 Cell membrane NA 0 PE3 -NX_A0A087X179 62131 549 9.18 17 Cell membrane NA 0 PE2 -NX_A0A087X1C5 57489 515 8.7 22 Mitochondrion;Cytoplasm;Membrane NA 2 PE5 -NX_A0A087X1G2 62171 549 9.23 17 Cell membrane NA 0 PE3 -NX_A0A096LNP1 8156 70 8.26 11 Secreted NA 0 PE2 -NX_A0A096LP01 10908 95 6.24 20 Nucleoplasm;Cytosol;Membrane NA 1 PE1 -NX_A0A096LP49 114856 1063 9.76 9 NA NA 0 PE1 -NX_A0A096LP55 10752 91 4.39 1 Mitochondrion inner membrane NA 0 PE3 -NX_A0A096LPI5 11989 108 8.8 6 NA NA 0 PE4 -NX_A0A0A0MRZ7 13297 120 4.9 2 Cell membrane;Secreted NA 0 PE3 -NX_A0A0A0MRZ8 12625 115 5.15 2 Cell membrane;Secreted NA 0 PE3 -NX_A0A0A0MRZ9 13446 124 7.76 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A0A0MS14 13508 117 9.2 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0A0MS15 13056 119 8.84 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0A0MT36 12340 114 6.7 2 Cell membrane;Secreted NA 0 PE3 -NX_A0A0A0MT76 4776 42 9.53 22 Cell membrane;Secreted NA 0 PE4 -NX_A0A0A0MT89 1394 12 8.59 2 Cell membrane;Secreted NA 0 PE4 -NX_A0A0A6YYC5 12931 116 5.34 14 Cell membrane NA 0 PE1 -NX_A0A0A6YYD4 13967 124 5.84 7 Cell membrane NA 0 PE3 -NX_A0A0A6YYG2 12632 114 7.63 7 Cell membrane NA 0 PE3 -NX_A0A0A6YYG3 12321 113 7.66 7 Cell membrane NA 0 PE3 -NX_A0A0A6YYJ7 12676 113 6.81 14 Cell membrane NA 0 PE3 -NX_A0A0A6YYK1 12788 113 7.81 14 Cell membrane NA 0 PE3 -NX_A0A0A6YYK6 12578 109 9.51 14 Cell membrane NA 0 PE3 -NX_A0A0A6YYK7 13195 116 4.75 14 Cell membrane NA 0 PE1 -NX_A0A0A6YYL3 61708 544 5.75 15 NA NA 0 PE1 -NX_A0A0B4J1U3 12478 117 4.56 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A0B4J1U6 12608 114 5.82 7 Cell membrane NA 0 PE3 -NX_A0A0B4J1U7 13481 121 9.3 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0B4J1V0 12926 119 8.84 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0B4J1V1 12840 117 8.49 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0B4J1V2 13182 119 8.49 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0B4J1V6 12858 119 9.3 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0B4J1X5 12840 117 8.91 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0B4J1X8 13077 118 5.28 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0B4J1Y8 13024 123 6.7 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A0B4J1Y9 13203 119 7.69 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0B4J1Z2 12989 117 9.1 2 Cell membrane;Secreted NA 0 PE1 -NX_A0A0B4J234 12502 112 6.71 14 Cell membrane NA 0 PE3 -NX_A0A0B4J235 12716 113 6.71 14 Cell membrane NA 0 PE3 -NX_A0A0B4J237 12429 113 6.89 14 Cell membrane NA 0 PE3 -NX_A0A0B4J238 11863 106 5.19 14 Cell membrane NA 0 PE3 -NX_A0A0B4J240 12852 114 9.07 14 Cell membrane NA 0 PE3 -NX_A0A0B4J241 12580 112 5.5 14 Cell membrane NA 0 PE1 -NX_A0A0B4J244 12614 114 7.74 14 Cell membrane NA 0 PE3 -NX_A0A0B4J245 12865 112 7.68 14 Cell membrane NA 0 PE3 -NX_A0A0B4J248 11926 108 4.49 14 Cell membrane NA 0 PE3 -NX_A0A0B4J249 12968 113 4.78 14 Cell membrane NA 0 PE3 -NX_A0A0B4J262 12690 113 5.17 14 Cell membrane NA 0 PE3 -NX_A0A0B4J263 12540 110 7.76 14 Cell membrane NA 0 PE1 -NX_A0A0B4J264 13297 116 6.2 14 Cell membrane NA 0 PE3 -NX_A0A0B4J265 12172 109 6.17 14 Cell membrane NA 0 PE3 -NX_A0A0B4J266 12352 112 9.22 14 Cell membrane NA 0 PE3 -NX_A0A0B4J268 12215 109 7.76 14 Cell membrane NA 0 PE1 -NX_A0A0B4J271 13173 114 7.71 14 Cell membrane NA 0 PE1 -NX_A0A0B4J272 12919 114 5.51 14 Cell membrane NA 0 PE1 -NX_A0A0B4J273 12465 112 6.28 14 Cell membrane NA 0 PE3 -NX_A0A0B4J274 12682 112 5.02 14 Cell membrane NA 0 PE1 -NX_A0A0B4J275 12500 112 7.81 14 Cell membrane NA 0 PE3 -NX_A0A0B4J276 12388 109 9 14 Cell membrane NA 0 PE3 -NX_A0A0B4J277 12145 110 6.54 14 Cell membrane NA 0 PE1 -NX_A0A0B4J279 12289 112 5.21 14 Cell membrane NA 0 PE1 -NX_A0A0B4J280 11556 105 6.1 14 Cell membrane NA 0 PE3 -NX_A0A0B4J2A2 18156 164 9.32 1 Cytoplasm NA 0 PE2 -NX_A0A0B4J2D5 28142 268 8.5 21 Mitochondrion NA 0 PE1 -NX_A0A0B4J2D9 12569 117 7.68 2 Cell membrane;Secreted NA 0 PE1 -NX_A0A0B4J2E0 12982 115 5.84 7 Cell membrane NA 0 PE1 -NX_A0A0B4J2F0 6313 54 8.04 15 Secreted NA 0 PE1 -NX_A0A0B4J2F2 84930 783 6.81 21 NA NA 0 PE3 -NX_A0A0B4J2H0 12660 117 8.64 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH24 12430 114 6.7 2 Cell membrane;Secreted NA 0 PE3 -NX_A0A0C4DH25 12515 116 4.46 2 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH29 13008 117 9.59 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH31 12820 117 8.98 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH32 12673 117 7.71 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH33 12824 117 5.04 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH34 13124 117 9.36 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH38 12675 117 8.45 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH39 13005 117 9.34 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH41 13066 118 9.36 14 Cell membrane;Secreted NA 0 PE3 -NX_A0A0C4DH42 12698 116 8.38 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH43 13312 119 8.5 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH55 13148 119 5.64 2 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH59 12518 114 5.52 7 Cell membrane NA 0 PE3 -NX_A0A0C4DH62 1910 17 5.24 14 Cell membrane;Secreted NA 0 PE4 -NX_A0A0C4DH67 12537 115 9.21 2 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH68 13079 120 8.74 2 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH69 12715 117 8.52 2 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH72 12697 117 8.52 2 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH73 12645 117 8.55 2 Cell membrane;Secreted NA 0 PE3 -NX_A0A0C5B5G6 2175 16 10.27 MT Secreted NA 0 PE1 -NX_A0A0D9SF12 16203 145 8.31 1 Membrane NA 1 PE2 -NX_A0A0G2JMD5 55092 474 8.62 1 NA NA 0 PE3 -NX_A0A0G2JMI3 12871 117 4.72 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0G2JS06 13394 123 8.84 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A0J9YVY3 12849 117 8.86 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0J9YWL9 109806 993 8.94 X NA NA 0 PE5 -NX_A0A0J9YX35 12823 117 7.68 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0J9YX75 12484 114 6.8 7 Cell membrane NA 0 PE3 -NX_A0A0J9YX94 60071 578 4.47 X NA NA 0 PE1 -NX_A0A0J9YXA8 1640 15 6 7 Cell membrane NA 0 PE4 -NX_A0A0J9YXQ4 65155 647 4.62 X NA NA 0 PE1 -NX_A0A0J9YXX1 12773 117 8.46 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0J9YXY3 12525 114 8.38 7 Cell membrane NA 0 PE1 -NX_A0A0J9YY54 78886 714 7.31 X NA NA 0 PE1 -NX_A0A0K0K1A3 12970 114 6.36 7 Cell membrane NA 0 PE3 -NX_A0A0K0K1A5 12402 114 6.01 7 Cell membrane NA 0 PE1 -NX_A0A0K0K1B3 12225 111 8.57 7 Cell membrane NA 0 PE3 -NX_A0A0K0K1C0 12817 115 4.72 7 Cell membrane NA 0 PE3 -NX_A0A0K0K1C4 12838 114 8.45 7 Cell membrane NA 0 PE3 -NX_A0A0K0K1D8 12632 114 7.64 7 Cell membrane NA 0 PE3 -NX_A0A0K0K1E9 12787 115 6.71 7 Cell membrane NA 0 PE3 -NX_A0A0K0K1G6 13035 114 6.58 7 Cell membrane NA 0 PE3 -NX_A0A0K0K1G8 13045 114 7.75 7 Cell membrane NA 0 PE3 -NX_A0A0K2S4Q6 21806 201 5.37 17 Secreted;Membrane NA 1 PE1 -NX_A0A0U1RQE8 34553 302 8.56 11 NA NA 0 PE1 -NX_A0A0U1RQF7 13402 123 9.67 16 NA NA 0 PE2 -NX_A0A0U1RQI7 112602 1052 4.73 1 Nucleus NA 0 PE3 -NX_A0A0U1RR11 29887 272 10.16 X NA NA 0 PE2 -NX_A0A0U1RR37 20280 186 4.63 1 NA NA 0 PE4 -NX_A0A0U1RRE5 7025 68 9.51 X P-body NA 0 PE1 -NX_A0A0U1RRI6 31262 287 9.8 X NA NA 0 PE1 -NX_A0A0U1RRK4 10701 108 4.78 14 NA NA 0 PE1 -NX_A0A0U1RRL7 7680 71 4.64 20 NA NA 0 PE1 -NX_A0A0U1RRN3 6977 59 6.54 11 Membrane NA 1 PE3 -NX_A0A140G945 19909 173 5.77 21 Cytoplasm;Nucleus NA 0 PE1 -NX_A0A183 9022 80 9.13 1 NA NA 0 PE2 -NX_A0A1B0GTC6 10386 90 5.44 3 NA NA 0 PE1 -NX_A0A1B0GTD5 15631 131 9.56 12 NA NA 0 PE2 -NX_A0A1B0GTH6 81798 734 10.01 3 Nucleus NA 0 PE2 -NX_A0A1B0GTI8 14321 121 4.92 13 Membrane NA 2 PE2 -NX_A0A1B0GTK4 20560 181 8.96 2 Membrane NA 1 PE3 -NX_A0A1B0GTK5 8682 79 8.8 X NA NA 0 PE3 -NX_A0A1B0GTL2 20914 189 11.95 20 NA NA 0 PE1 -NX_A0A1B0GTQ4 9607 84 11.45 6 Cell membrane NA 0 PE3 -NX_A0A1B0GTR0 18455 161 8.6 19 Secreted NA 0 PE2 -NX_A0A1B0GTR3 12028 108 10.8 X NA NA 0 PE1 -NX_A0A1B0GTR4 11945 108 8.55 1 NA NA 0 PE5 -NX_A0A1B0GTS1 37155 333 6.48 X Nucleus NA 0 PE2 -NX_A0A1B0GTU1 88937 805 6.4 1 NA NA 0 PE1 -NX_A0A1B0GTU2 6734 59 4.19 15 Membrane NA 1 PE3 -NX_A0A1B0GTW7 85397 788 8.04 14 Membrane NA 1 PE3 -NX_A0A1B0GTY4 20847 177 9.36 1 Membrane NA 1 PE1 -NX_A0A1B0GTZ2 34479 297 8.83 14 NA NA 0 PE5 -NX_A0A1B0GU29 16551 152 4.52 6 Membrane NA 1 PE3 -NX_A0A1B0GU33 8127 70 10.53 9 NA NA 0 PE2 -NX_A0A1B0GU71 11681 98 10.74 13 NA NA 0 PE3 -NX_A0A1B0GUA5 10859 103 9.03 5 Membrane NA 1 PE2 -NX_A0A1B0GUA6 21921 201 8.34 2 NA NA 0 PE5 -NX_A0A1B0GUA7 18842 166 7.59 2 Membrane NA 1 PE2 -NX_A0A1B0GUA9 23433 212 4.84 13 NA NA 0 PE1 -NX_A0A1B0GUC4 12046 108 9 1 NA NA 0 PE4 -NX_A0A1B0GUI7 9747 84 9.66 9 NA NA 0 PE5 -NX_A0A1B0GUJ8 22873 204 9.07 19 NA NA 0 PE2 -NX_A0A1B0GUQ0 8715 79 7.8 X NA NA 0 PE2 -NX_A0A1B0GUS0 23875 222 6.04 19 NA NA 0 PE2 -NX_A0A1B0GUS4 17875 154 7.67 13 NA NA 0 PE1 -NX_A0A1B0GUT2 11738 108 9.21 10 NA NA 0 PE2 -NX_A0A1B0GUU1 72432 675 5.84 17 Membrane NA 1 PE3 -NX_A0A1B0GUV7 13937 120 8.99 9 NA NA 0 PE2 -NX_A0A1B0GUW6 128649 1196 8.57 17 Membrane NA 1 PE1 -NX_A0A1B0GUW7 6429 55 10.13 9 Membrane NA 1 PE3 -NX_A0A1B0GUX0 20389 176 9.87 7 NA NA 0 PE1 -NX_A0A1B0GUY1 29775 285 10.29 5 NA NA 0 PE1 -NX_A0A1B0GV03 75583 622 5.31 15 NA NA 0 PE1 -NX_A0A1B0GV22 8715 79 7.8 X NA NA 0 PE2 -NX_A0A1B0GV85 56837 526 6.53 4 Membrane NA 1 PE2 -NX_A0A1B0GV90 5988 55 6 1 Membrane NA 1 PE3 -NX_A0A1B0GVG4 24954 234 10.03 19 NA NA 0 PE3 -NX_A0A1B0GVG6 14093 124 4.82 11 NA NA 0 PE1 -NX_A0A1B0GVH4 25576 220 8.73 8 Secreted NA 0 PE3 -NX_A0A1B0GVH6 37385 325 9.25 13 NA NA 0 PE4 -NX_A0A1B0GVH7 59586 501 9.96 4 NA NA 0 PE4 -NX_A0A1B0GVK7 9685 77 9.92 3 NA NA 0 PE4 -NX_A0A1B0GVM5 6800 59 10.18 X NA NA 0 PE4 -NX_A0A1B0GVM6 13914 126 9.43 11 Cilium basal body NA 0 PE2 -NX_A0A1B0GVN3 30198 265 9.03 2 Membrane NA 1 PE2 -NX_A0A1B0GVQ0 9632 90 8.51 9 Lysosome membrane;Late endosome membrane NA 1 PE1 -NX_A0A1B0GVS7 21509 189 4.64 3 NA NA 0 PE2 -NX_A0A1B0GVT2 10135 93 5.51 17 Membrane NA 1 PE1 -NX_A0A1B0GVV1 9379 85 5.56 11 Membrane NA 1 PE3 -NX_A0A1B0GVY4 8394 71 5.19 4 Membrane NA 1 PE2 -NX_A0A1B0GVZ2 9744 78 8.52 9 NA NA 0 PE4 -NX_A0A1B0GVZ6 22665 204 11.53 19 NA NA 0 PE3 -NX_A0A1B0GVZ9 26874 245 6.68 1 Membrane NA 5 PE3 -NX_A0A1B0GW35 20250 172 6.31 4 NA NA 0 PE2 -NX_A0A1B0GW64 14123 132 5.14 5 Membrane NA 1 PE3 -NX_A0A1B0GWB2 26769 263 4.77 9 Membrane NA 2 PE1 -NX_A0A1B0GWG4 10219 90 6.01 X Membrane NA 1 PE2 -NX_A0A1B0GWH4 37128 333 6.48 X Nucleus NA 0 PE2 -NX_A0A1B0GWK0 15275 134 5.66 17 NA NA 0 PE3 -NX_A0A1B0GX31 12827 115 7.72 7 Cell membrane NA 0 PE3 -NX_A0A1B0GX49 12298 114 7.68 7 Cell membrane NA 0 PE1 -NX_A0A1B0GX51 12715 115 6.71 7 Cell membrane NA 0 PE3 -NX_A0A1B0GX56 12955 115 9.2 14 Cell membrane NA 0 PE1 -NX_A0A1B0GX68 13403 115 4.83 7 Cell membrane NA 0 PE3 -NX_A0A1B0GX78 12997 115 6.07 7 Cell membrane NA 0 PE3 -NX_A0A1B0GX95 12658 115 9.6 7 Cell membrane NA 0 PE3 -NX_A0A1B0GXF2 12480 115 6.05 7 Cell membrane NA 0 PE1 -NX_A0A1W2PP97 13152 115 5.79 19 NA NA 0 PE3 -NX_A0A1W2PPG7 7528 69 5.14 19 Cell membrane NA 0 PE5 -NX_A0A1W2PR19 27942 241 6.51 22 Cytoplasm NA 0 PE3 -NX_A0A1W2PR48 48656 441 5.58 16 NA NA 0 PE1 -NX_A0A1W2PS18 15819 150 4.16 19 Membrane NA 2 PE3 -NX_A0A286YEV6 9792 105 8.41 2 NA NA 0 PE1 -NX_A0A286YEX9 3825 47 7.96 2 NA NA 0 PE1 -NX_A0A286YEY9 8607 88 8.46 2 NA NA 0 PE1 -NX_A0A286YF01 8951 96 8.36 2 NA NA 0 PE1 -NX_A0A286YF46 8201 85 8.39 2 NA NA 0 PE1 -NX_A0A286YF58 39128 385 9.55 4 Membrane NA 4 PE3 -NX_A0A286YF60 9511 100 8.47 2 NA NA 0 PE1 -NX_A0A286YF77 9896 105 8.45 2 NA NA 0 PE1 -NX_A0A286YFB4 10822 120 8.34 2 NA NA 0 PE1 -NX_A0A286YFG1 10123 108 8.39 2 NA NA 0 PE1 -NX_A0A2R8Y4Y8 18448 160 9.41 11 Secreted NA 0 PE3 -NX_A0A2R8YFL7 21040 184 8.19 11 Secreted NA 0 PE3 -NX_A0A2R8YFM6 21194 193 5.48 11 Secreted NA 0 PE3 -NX_A0A539 12890 114 8.19 7 Cell membrane NA 0 PE3 -NX_A0A576 12928 114 8.21 7 Cell membrane NA 0 PE3 -NX_A0A577 12859 114 8.48 7 Cell membrane NA 0 PE3 -NX_A0A578 12600 114 9.55 7 Cell membrane NA 0 PE1 -NX_A0A584 12743 115 8.39 7 Cell membrane NA 0 PE3 -NX_A0A589 12856 114 7.63 7 Cell membrane NA 0 PE3 -NX_A0A597 12550 114 8.42 7 Cell membrane NA 0 PE3 -NX_A0A599 12565 114 5.81 7 Cell membrane NA 0 PE3 -NX_A0A5A2 12721 114 6.06 7 Cell membrane NA 0 PE3 -NX_A0A5A6 12990 115 4.93 7 Cell membrane NA 0 PE3 -NX_A0A5B0 12880 115 7.75 7 Cell membrane NA 0 PE3 -NX_A0A5B6 13166 114 8.35 7 Cell membrane NA 0 PE1 -NX_A0A5B7 12190 111 4.88 7 Cell membrane NA 0 PE3 -NX_A0A5B9 19968 178 6.48 7 Cell membrane NA 1 PE1 -NX_A0AUZ9 112253 987 8.69 2 Cytosol NA 0 PE1 -NX_A0AV02 78239 714 5.51 3 Nucleoplasm;Membrane NA 13 PE1 -NX_A0AV96 64099 593 7.56 4 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_A0AVF1 64178 554 6.5 7 Nucleus speckle;Cytosol;Cytoplasm;Nucleus;Cytoskeleton;Cilium NA 0 PE1 -NX_A0AVI2 237935 2057 8.3 2 Cell membrane;Membrane NA 1 PE2 -NX_A0AVI4 40464 362 7.84 4 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 3 PE1 -NX_A0AVK6 94166 867 9.11 11 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_A0AVT1 117970 1052 5.76 4 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_A0FGR8 102357 921 9.33 7 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA 2 PE1 -NX_A0FGR9 100035 886 8.68 3 Endoplasmic reticulum membrane;Cell membrane NA 2 PE1 -NX_A0JD32 13278 116 4.99 14 Cell membrane NA 0 PE3 -NX_A0JD36 12944 115 6.06 14 Cell membrane NA 0 PE1 -NX_A0JD37 12981 113 5.5 14 Cell membrane NA 0 PE1 -NX_A0JLT2 26273 244 9.83 11 Nucleus NA 0 PE1 -NX_A0JNW5 164199 1464 5.89 12 Cytosol;Cell membrane;Early endosome NA 0 PE1 -NX_A0JP26 65710 581 6.24 15 NA NA 0 PE2 -NX_A0M8Q6 11254 106 8.5 22 Cell membrane;Secreted NA 0 PE1 -NX_A0MZ66 71640 631 5.27 10 Perikaryon;Cytosol;Cell membrane;Axon;Nucleus;Filopodium;Lamellipodium;Cytoskeleton;Growth cone NA 0 PE1 -NX_A0PG75 30027 271 5.12 3 NA NA 0 PE2 -NX_A0PJE2 35146 317 6.84 13 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA 0 PE2 -NX_A0PJK1 64342 596 7.55 17 Cell membrane;Endoplasmic reticulum NA 14 PE1 -NX_A0PJW6 22049 202 11.03 11 Mitochondrion;Nucleus;Nucleus membrane;Membrane NA 2 PE1 -NX_A0PJW8 11880 107 10 2 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_A0PJX0 21745 185 4.64 2 NA NA 0 PE1 -NX_A0PJX2 23912 215 4.67 20 NA NA 0 PE1 -NX_A0PJX4 25832 238 6.5 4 Cytosol;Endoplasmic reticulum membrane;Lipid droplet NA 1 PE1 -NX_A0PJX8 37222 343 8.57 1 Cytosol;Nucleoplasm;Membrane NA 8 PE1 -NX_A0PJY2 52038 475 9.62 7 Cytosol;Nucleus Hypogonadotropic hypogonadism 22 with or without anosmia 0 PE1 -NX_A0PJZ0 18446 165 8.26 18 NA NA 0 PE5 -NX_A0PJZ3 51056 443 9.79 3 Nucleoplasm;Cytoskeleton;Midbody ring;Membrane NA 1 PE1 -NX_A0PK00 40246 339 9.08 12 Cytosol;Nucleolus;Nucleus inner membrane NA 6 PE1 -NX_A0PK05 29891 275 6.07 10 Membrane NA 4 PE1 -NX_A0PK11 25446 232 6.51 4 Membrane NA 4 PE2 -NX_A0ZSE6 13039 113 8.2 3 Membrane NA 1 PE2 -NX_A1A4F0 15626 135 9.28 3 Nucleoplasm;Nucleus NA 0 PE2 -NX_A1A4G5 21321 178 8.59 3 Cytoplasmic vesicle;Nucleus speckle;Cytosol NA 0 PE1 -NX_A1A4S6 89375 786 6.75 4 Nucleus membrane;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Perinuclear region NA 0 PE1 -NX_A1A4V9 37921 331 6.29 16 Cytosol NA 0 PE1 -NX_A1A4Y4 20142 181 5.23 5 Phagosome membrane;Autophagosome membrane;Phagocytic cup;Golgi apparatus membrane;Cell membrane Inflammatory bowel disease 19 0 PE1 -NX_A1A519 37158 330 5 5 Nucleus NA 0 PE1 -NX_A1A580 6892 65 5.26 21 NA NA 0 PE1 -NX_A1A5B4 90333 782 8.45 11 Cell membrane;Golgi apparatus NA 8 PE1 -NX_A1A5C7 73748 686 7.98 6 Cytosol;Cytoplasmic vesicle;Nucleoplasm;Membrane NA 10 PE1 -NX_A1A5D9 56834 508 4.99 16 Cytosol;Cytoskeleton NA 0 PE1 -NX_A1E959 30777 279 4.49 4 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Secreted NA 0 PE1 -NX_A1IGU5 76278 675 6.47 5 Cytosol NA 0 PE1 -NX_A1KXE4 20324 195 9.26 2 Axon;Cytoplasm;Perinuclear region;Nucleus;Cell membrane NA 2 PE1 -NX_A1KZ92 163686 1463 7.25 8 Cytosol;Cytoplasm;Nucleoplasm;Secreted NA 0 PE1 -NX_A1L020 54173 520 7.02 1 Cytosol;Cytoplasm;P-body;Nucleus NA 0 PE1 -NX_A1L0T0 67868 632 8.42 19 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 1 PE1 -NX_A1L157 28245 253 7.53 12 Cytoplasmic vesicle;Membrane NA 4 PE2 -NX_A1L162 17672 156 3.86 2 Cytoplasmic vesicle;Nucleolus NA 0 PE1 -NX_A1L167 18338 161 7.74 5 Nucleus;Cell membrane NA 0 PE1 -NX_A1L168 13591 122 9.13 20 NA NA 0 PE2 -NX_A1L170 29057 272 5.19 1 Nucleoplasm NA 0 PE1 -NX_A1L188 7756 74 9.56 17 Mitochondrion NA 0 PE1 -NX_A1L190 10601 88 4.53 22 Nucleolus;Nucleus;Golgi apparatus;Chromosome NA 0 PE1 -NX_A1L1A6 20591 192 6.28 19 Nucleus;Cell junction;Membrane NA 1 PE2 -NX_A1L390 134412 1219 6.13 14 Cytosol;Nucleoplasm;Cytoskeleton;Centrosome;Cell membrane NA 0 PE1 -NX_A1L3X0 33356 281 9.34 5 Endoplasmic reticulum membrane NA 7 PE1 -NX_A1L3X4 4983 49 8.38 16 NA NA 0 PE5 -NX_A1L429 12925 117 4.23 X NA NA 0 PE1 -NX_A1L443 80770 756 8.51 9 NA NA 0 PE2 -NX_A1L453 35356 326 6.04 1 Secreted NA 0 PE1 -NX_A1L4H1 165743 1573 5.71 19 Cytosol;Cytoplasm;Nucleoplasm;Secreted NA 0 PE1 -NX_A1L4K1 85385 749 4.81 15 Perinuclear region;Sarcoplasmic reticulum;Nucleus NA 0 PE1 -NX_A1L4L8 19885 177 7.94 5 NA NA 0 PE2 -NX_A1L4Q6 18020 167 6.08 11 NA NA 0 PE5 -NX_A1X283 101579 911 8.82 5 Cytoplasm;Podosome;Nucleus;Nucleolus Frank-Ter Haar syndrome 0 PE1 -NX_A1XBS5 33431 289 5.89 8 Centriole;Cytoplasm;Mitochondrion;Nucleus;Cilium basal body NA 0 PE1 -NX_A1YPR0 69017 619 5.09 18 NA NA 0 PE1 -NX_A1Z1Q3 47421 425 4.59 20 Nucleolus;Nucleus;Centrosome NA 0 PE1 -NX_A2A288 58078 527 8.92 6 Cytosol;Cytoplasm;P-body;Nucleus;Nucleoplasm NA 0 PE1 -NX_A2A2V5 11458 107 4.33 13 Cytoplasmic vesicle;Membrane NA 1 PE2 -NX_A2A2Y4 68772 597 5.97 9 Nucleoplasm;Cell membrane;Golgi apparatus;Membrane NA 1 PE1 -NX_A2A2Z9 118231 1011 8.35 9 NA NA 0 PE1 -NX_A2A368 36178 324 5.25 X NA NA 0 PE4 -NX_A2A3K4 84457 754 7.35 9 Nucleoplasm NA 0 PE1 -NX_A2A3L6 63396 582 9.37 1 Nucleoplasm NA 0 PE4 -NX_A2A3N6 95048 862 5.46 10 Cytoplasm NA 0 PE5 -NX_A2AJT9 83871 711 9.71 X Mitochondrion;Nucleoplasm NA 0 PE1 -NX_A2CJ06 65320 578 9.18 2 Cell membrane NA 0 PE2 -NX_A2IDD5 48521 438 8.27 16 Centriole;Perinuclear region;Sarcoplasmic reticulum;Sarcolemma Myopathy, centronuclear, 4 0 PE1 -NX_A2NJV5 13085 120 6.7 2 Cell membrane;Secreted NA 0 PE1 -NX_A2PYH4 162610 1435 6.66 1 Cytoplasmic vesicle;Golgi apparatus Premature ovarian failure 9 0 PE1 -NX_A2RRD8 59326 509 9.16 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_A2RRH5 90038 827 8.25 6 Nucleoplasm NA 0 PE1 -NX_A2RRL7 11520 107 5.41 7 Membrane NA 1 PE2 -NX_A2RRP1 268571 2371 5.65 2 Endoplasmic reticulum membrane;Nucleolus;Nucleus membrane;Golgi apparatus;Cytoplasm;Endoplasmic reticulum Infantile liver failure syndrome 2;Short stature, optic nerve atrophy, and Pelger-Huet anomaly 0 PE1 -NX_A2RTX5 92646 802 5.74 15 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_A2RTY3 65681 570 9.32 17 NA NA 0 PE1 -NX_A2RU14 12459 115 6.7 11 Cytosol;Cilium;Cell membrane;Membrane NA 3 PE1 -NX_A2RU30 59213 521 5.48 12 Endoplasmic reticulum membrane;Cytoplasm NA 0 PE1 -NX_A2RU37 13369 121 10.58 9 NA NA 0 PE2 -NX_A2RU48 24877 225 8.32 12 Membrane NA 1 PE1 -NX_A2RU49 41933 373 6.36 15 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_A2RU54 29598 273 9.16 10 Nucleus NA 0 PE1 -NX_A2RU67 67039 622 4.88 12 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_A2RUB1 107559 952 6.68 17 Cytoplasm;Nucleus;Cell junction NA 0 PE1 -NX_A2RUB6 109411 948 8.47 3 Cell junction;Photoreceptor outer segment;Midbody ring;Cilium;Centriolar satellite;Photoreceptor inner segment;Microtubule organizing center;Centrosome;Cilium basal body NA 0 PE1 -NX_A2RUC4 36548 315 7.1 2 Nucleus NA 0 PE1 -NX_A2RUG3 12988 117 8.91 Y Membrane NA 3 PE2 -NX_A2RUH7 38733 354 8.65 1 NA NA 0 PE1 -NX_A2RUQ5 17761 167 10.63 17 NA NA 0 PE2 -NX_A2RUR9 165125 1427 5.26 17 NA NA 0 PE2 -NX_A2RUS2 135890 1198 6.63 8 Cytosol;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_A2RUT3 17572 159 10.06 3 Membrane NA 1 PE1 -NX_A2RUU4 14057 121 8.92 6 Secreted NA 0 PE2 -NX_A2VCK2 37665 349 9 1 NA NA 0 PE1 -NX_A2VDF0 16765 154 5.49 10 NA NA 0 PE1 -NX_A2VDJ0 179339 1609 6.43 4 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Endoplasmic reticulum;Cell membrane NA 1 PE1 -NX_A2VEC9 547841 5150 5.66 7 Extracellular space NA 0 PE1 -NX_A3KFT3 35112 312 8.56 1 Cell membrane NA 7 PE3 -NX_A3KMH1 214824 1905 7.01 13 Mitochondrion;Cytoplasmic vesicle;Lipid droplet;Peroxisome NA 0 PE1 -NX_A3KN83 154312 1393 7.96 12 Nucleoplasm NA 0 PE1 -NX_A3QJZ6 55489 481 8.4 1 NA NA 0 PE3 -NX_A3QJZ7 55206 478 8.58 1 NA NA 0 PE3 -NX_A4D0S4 193540 1761 5.93 7 Cytosol;Basement membrane NA 0 PE1 -NX_A4D0T2 13234 115 9.3 7 Membrane NA 1 PE4 -NX_A4D0T7 6102 59 5.93 7 Membrane NA 1 PE2 -NX_A4D0V7 117491 1026 8.41 7 Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_A4D0Y5 10046 90 6.55 7 NA NA 0 PE4 -NX_A4D126 49873 451 5.86 7 Cytosol;Nucleolus;Nucleus Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7;Muscular dystrophy-dystroglycanopathy limb-girdle C7 0 PE1 -NX_A4D161 33083 298 6.33 7 Cytosol NA 0 PE1 -NX_A4D174 19096 169 9.51 7 NA NA 0 PE2 -NX_A4D1B5 97802 854 6.38 7 Cytoplasmic vesicle;trans-Golgi network NA 0 PE1 -NX_A4D1E1 152573 1349 8.84 7 NA NA 0 PE2 -NX_A4D1E9 42933 387 9.12 7 Nucleolus;Chromosome NA 0 PE1 -NX_A4D1F6 98035 860 7.24 7 NA NA 0 PE1 -NX_A4D1N5 16741 150 7.87 7 NA NA 0 PE2 -NX_A4D1P6 83344 747 6.15 7 Early endosome membrane;Late endosome membrane NA 0 PE1 -NX_A4D1S0 42851 409 5.63 7 Membrane NA 1 PE1 -NX_A4D1S5 24400 217 6.06 7 Cell membrane NA 0 PE1 -NX_A4D1T9 26445 235 9.05 7 Acrosome;Secreted NA 0 PE1 -NX_A4D1U4 51446 455 5.18 7 Golgi apparatus NA 0 PE1 -NX_A4D1Z8 15999 144 6.28 7 NA NA 0 PE2 -NX_A4D250 19503 179 4.86 7 NA NA 0 PE2 -NX_A4D256 51614 447 8.33 7 Endoplasmic reticulum membrane NA 1 PE1 -NX_A4D263 49672 438 8.67 7 NA NA 0 PE1 -NX_A4D2B0 27202 266 4.73 7 NA NA 0 PE1 -NX_A4D2B8 47508 440 8.75 7 NA NA 0 PE5 -NX_A4D2G3 34606 310 8.65 7 Cell membrane NA 7 PE2 -NX_A4D2H0 87868 777 5.15 7 Membrane NA 1 PE2 -NX_A4D2P6 132276 1211 7.11 7 Postsynaptic cell membrane NA 0 PE1 -NX_A4FU01 79545 709 6.59 1 Centrosome NA 0 PE1 -NX_A4FU28 87953 777 5.22 6 Membrane NA 1 PE2 -NX_A4FU49 70519 640 5.6 1 Nucleus;Cell membrane NA 0 PE1 -NX_A4FU69 173404 1503 5.58 17 NA NA 0 PE1 -NX_A4GXA9 41178 379 5.97 16 Nucleus NA 0 PE1 -NX_A4IF30 57809 521 9 14 Nucleolus;Membrane NA 10 PE2 -NX_A4QMS7 16991 147 7.02 5 NA NA 0 PE1 -NX_A4QN01 15288 128 9.18 10 NA NA 0 PE2 -NX_A4QPB2 28483 252 5.92 22 Nucleoplasm NA 0 PE2 -NX_A4QPH2 66944 592 6.68 22 NA NA 0 PE5 -NX_A4UGR9 382300 3374 5.99 2 Nucleoplasm;Cell junction;Cell membrane NA 0 PE1 -NX_A5A3E0 121445 1075 5.82 2 Cell cortex NA 0 PE1 -NX_A5D6W6 32207 292 9.86 14 Endoplasmic reticulum membrane NA 6 PE1 -NX_A5D8T8 49602 446 8.47 16 Endosome;Endoplasmic reticulum;Golgi apparatus;Secreted NA 0 PE1 -NX_A5D8V6 38659 355 5.19 11 Cytoplasmic vesicle;Late endosome membrane;Nucleus NA 0 PE1 -NX_A5D8V7 69140 595 9.11 19 Centriole;Nucleoplasm;Cilium;Cilium axoneme;Cilium basal body Ciliary dyskinesia, primary, 30 0 PE1 -NX_A5D8W1 105883 941 6.81 7 Flagellum;Cilium Spermatogenic failure 24 0 PE1 -NX_A5LHX3 32530 300 5.99 14 Cytoplasm;Nucleus NA 0 PE1 -NX_A5PKW4 109543 1024 6.43 10 Cytosol;Nucleoplasm;Cleavage furrow;Cell membrane;Ruffle membrane NA 0 PE1 -NX_A5PL33 107498 1030 8.09 7 Cytosol;Nucleus NA 0 PE1 -NX_A5PLK6 125688 1076 9.15 1 Membrane NA 1 PE1 -NX_A5PLL1 56414 514 7.61 5 Cytosol;Cytoplasm;Mitochondrion;Nucleus;Nucleoplasm NA 0 PE1 -NX_A5PLL7 31135 270 6.33 20 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 3 PE1 -NX_A5PLN7 82698 773 9.53 4 Golgi apparatus NA 0 PE1 -NX_A5PLN9 46524 417 5.4 5 Nucleus;Cell membrane NA 0 PE1 -NX_A5X5Y0 51438 456 6.46 3 Cell membrane NA 4 PE1 -NX_A5YKK6 266939 2376 6.65 16 Cytosol;P-body;Nucleus NA 0 PE1 -NX_A5YM69 53287 484 4.27 7 NA NA 0 PE1 -NX_A5YM72 88484 827 5.83 11 NA NA 0 PE1 -NX_A6BM72 110844 1044 5.78 15 Basolateral cell membrane;Cell membrane NA 1 PE1 -NX_A6H8M9 85827 788 5.24 3 Membrane NA 1 PE1 -NX_A6H8Y1 293885 2624 5.06 5 Nucleus NA 0 PE1 -NX_A6H8Z2 45394 402 5.37 9 NA NA 0 PE1 -NX_A6NC05 15764 138 9.26 5 Mitochondrion NA 0 PE1 -NX_A6NC42 13498 116 9.26 6 Cytoplasm NA 0 PE1 -NX_A6NC51 25701 233 9.05 19 Endosome membrane;Autophagosome membrane;Cell membrane NA 6 PE2 -NX_A6NC57 106446 917 6.25 18 NA NA 0 PE2 -NX_A6NC62 12297 111 9.05 7 NA NA 0 PE5 -NX_A6NC78 71330 632 7.14 15 Golgi stack membrane NA 0 PE5 -NX_A6NC86 21926 204 8.37 19 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_A6NC97 41969 362 8.59 3 Membrane NA 1 PE5 -NX_A6NC98 164809 1476 5.09 11 Golgi apparatus;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Microtubule organizing center;Cytosol;Membrane;Centrosome NA 0 PE1 -NX_A6NCC3 71536 632 5.98 15 NA NA 0 PE1 -NX_A6NCE7 14628 125 8.73 12 Autophagosome membrane;Cytoskeleton;Endomembrane system NA 0 PE2 -NX_A6NCF5 57810 533 6.98 14 NA NA 0 PE2 -NX_A6NCF6 37899 341 5.98 X NA NA 0 PE5 -NX_A6NCI4 134020 1184 8.74 16 Secreted NA 0 PE2 -NX_A6NCI5 10419 91 6.94 1 Membrane NA 1 PE5 -NX_A6NCI8 100170 922 9.12 2 NA NA 0 PE2 -NX_A6NCJ1 24176 209 9.14 19 Cytosol;Endoplasmic reticulum;Cell membrane NA 0 PE1 -NX_A6NCK2 52310 446 8.07 2 NA NA 0 PE3 -NX_A6NCL1 37887 334 5.79 3 Nucleus NA 0 PE1 -NX_A6NCL2 17834 159 8.55 12 NA NA 0 PE1 -NX_A6NCL7 53975 494 8.27 5 Mitochondrion NA 0 PE1 -NX_A6NCM1 95061 818 9.22 7 NA NA 0 PE1 -NX_A6NCN2 29117 255 5.64 12 NA NA 0 PE5 -NX_A6NCN8 35334 305 10.17 12 NA NA 0 PE1 -NX_A6NCQ9 23767 220 9.08 17 Membrane NA 1 PE1 -NX_A6NCS4 32121 301 9.91 8 Nucleus Conotruncal heart malformations 0 PE1 -NX_A6NCS6 30481 295 8.73 2 Nucleus;Cell membrane NA 0 PE1 -NX_A6NCV1 35253 312 8.95 12 Cell membrane NA 7 PE2 -NX_A6NCW0 59536 530 7.83 8 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_A6NCW3 18250 169 7.7 1 NA NA 0 PE5 -NX_A6NCW7 59636 530 7.1 8 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_A6ND01 28672 250 5.88 11 Cell membrane NA 0 PE1 -NX_A6ND36 90835 823 5.97 17 Cytosol;Nucleus NA 0 PE1 -NX_A6ND48 35175 311 8.89 1 Cell membrane NA 7 PE2 -NX_A6ND91 29946 283 6.79 19 NA NA 0 PE1 -NX_A6NDA9 60168 550 5.65 10 Membrane NA 1 PE1 -NX_A6NDB9 71695 673 4.53 19 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_A6NDD5 25796 238 4.55 14 cis-Golgi network;Membrane NA 2 PE2 -NX_A6NDE4 55835 496 9.96 Y Nucleus NA 0 PE2 -NX_A6NDE8 12924 117 4.33 X NA NA 0 PE2 -NX_A6NDG6 34006 321 5.85 16 Nucleus NA 0 PE1 -NX_A6NDH6 35352 313 8.77 3 Cell membrane NA 7 PE3 -NX_A6NDI0 52747 452 7.06 11 NA NA 0 PE2 -NX_A6NDK9 79884 693 5.31 15 NA NA 0 PE1 -NX_A6NDL7 31188 271 5.73 13 NA NA 0 PE5 -NX_A6NDL8 35296 312 9.01 12 Cell membrane NA 7 PE3 -NX_A6NDN3 79913 693 5.4 15 NA NA 0 PE3 -NX_A6NDN8 10909 102 8.84 11 NA NA 0 PE4 -NX_A6NDP7 32967 307 8.82 17 Membrane NA 7 PE2 -NX_A6NDR6 30204 274 4.84 17 Nucleus NA 0 PE5 -NX_A6NDS4 62320 549 9.25 17 Cell membrane NA 0 PE2 -NX_A6NDU8 33620 294 5.15 5 Cytosol;Nucleoplasm NA 0 PE1 -NX_A6NDV4 51941 472 8.35 9 Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleus;Cell membrane;Mitochondrion NA 7 PE1 -NX_A6NDX4 13671 124 8.96 15 Membrane NA 1 PE5 -NX_A6NDX5 83235 716 9.69 20 Nucleus NA 0 PE5 -NX_A6NDY0 30386 278 4.84 16 Cytoplasm NA 0 PE2 -NX_A6NDY2 49635 464 9.76 8 NA NA 0 PE5 -NX_A6NDZ8 23121 208 11.45 19 NA NA 0 PE5 -NX_A6NE01 262758 2351 8.66 12 NA NA 0 PE1 -NX_A6NE02 52471 478 8.91 17 Secreted NA 0 PE1 -NX_A6NE21 49680 464 9.93 8 NA NA 0 PE5 -NX_A6NE52 180307 1622 7.56 8 NA NA 0 PE1 -NX_A6NE82 23095 208 11.45 19 NA NA 0 PE5 -NX_A6NEC2 53747 478 5.17 17 NA NA 0 PE1 -NX_A6NED2 40079 376 5.18 15 Cytosol;Cell membrane;Chromosome NA 0 PE1 -NX_A6NEE1 59203 506 6.1 14 NA NA 0 PE1 -NX_A6NEF3 67563 574 4.81 15 NA NA 0 PE3 -NX_A6NEH6 25168 219 5.51 2 Membrane NA 2 PE1 -NX_A6NEH8 20902 195 11.72 10 NA NA 0 PE5 -NX_A6NEK1 38383 342 6.22 19 NA NA 0 PE1 -NX_A6NEL2 85742 793 9.64 4 Nucleolus NA 0 PE1 -NX_A6NEL3 18478 165 8.19 11 NA NA 0 PE5 -NX_A6NEM1 49193 432 5.08 15 NA NA 0 PE2 -NX_A6NEN9 21305 183 10.33 X NA NA 0 PE1 -NX_A6NEQ0 55759 496 9.95 Y Nucleus NA 0 PE2 -NX_A6NEQ2 42657 426 5.39 11 Mitochondrion;Nucleus membrane NA 0 PE2 -NX_A6NER0 62185 549 9.24 17 Cell membrane NA 0 PE2 -NX_A6NER3 12896 117 4.22 X NA NA 0 PE1 -NX_A6NES4 189561 1674 6.23 2 Cytosol NA 0 PE1 -NX_A6NET4 36711 321 8.32 3 Cell membrane NA 7 PE3 -NX_A6NEV1 28155 266 4.57 3 NA NA 0 PE3 -NX_A6NEW6 49759 464 9.95 8 NA NA 0 PE5 -NX_A6NEY3 55643 463 4.81 15 NA NA 0 PE5 -NX_A6NEY8 18658 169 5.82 2 NA NA 0 PE5 -NX_A6NF01 83015 834 9.95 7 Nuclear pore complex NA 0 PE5 -NX_A6NF34 70629 631 8.78 10 Membrane NA 1 PE1 -NX_A6NF36 17536 153 6.19 17 NA NA 0 PE1 -NX_A6NF83 11356 97 10.5 7 Nucleus NA 0 PE1 -NX_A6NF89 35963 314 8.98 12 Cell membrane NA 7 PE3 -NX_A6NFA0 37613 338 8.24 9 Membrane NA 1 PE1 -NX_A6NFA1 57421 517 6.19 1 Cell membrane NA 1 PE1 -NX_A6NFC5 23360 223 5.56 17 Endoplasmic reticulum;Membrane NA 3 PE2 -NX_A6NFC9 35528 320 6.35 1 Cell membrane NA 4 PE5 -NX_A6NFD8 26913 242 9.39 4 Nucleus NA 0 PE2 -NX_A6NFE2 39487 343 4.74 12 Membrane NA 1 PE2 -NX_A6NFE3 14721 127 5.28 7 NA NA 0 PE1 -NX_A6NFF2 12045 107 6.13 X NA NA 0 PE5 -NX_A6NFH5 15565 140 7.71 8 NA NA 0 PE1 -NX_A6NFI3 108437 1004 5.18 7 Nucleus NA 0 PE1 -NX_A6NFK2 28284 248 6.26 5 Stereocilium Deafness, autosomal recessive, 101 0 PE3 -NX_A6NFN3 33873 312 6.71 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_A6NFN9 56600 502 9.29 3 NA NA 0 PE2 -NX_A6NFQ2 100906 919 6.75 7 Cell junction;Cell membrane NA 0 PE1 -NX_A6NFQ7 21648 191 9.55 19 Nucleus NA 0 PE3 -NX_A6NFR6 39250 353 9.54 5 Membrane NA 1 PE1 -NX_A6NFT4 35914 308 7.01 12 Cytoplasmic vesicle;Nucleolus;Nucleus;Cilium axoneme NA 0 PE1 -NX_A6NFU0 47349 413 8.23 17 Membrane NA 1 PE1 -NX_A6NFU8 21631 196 8.26 15 NA NA 0 PE2 -NX_A6NFX1 53743 504 9.1 2 Cell membrane NA 10 PE1 -NX_A6NFY4 48664 417 8.63 2 Nucleoplasm;Nucleus inner membrane NA 5 PE1 -NX_A6NFY7 12806 115 11.39 19 Mitochondrion;Mitochondrion matrix Mitochondrial complex II deficiency 0 PE1 -NX_A6NFZ4 11258 105 8.08 10 Secreted NA 0 PE1 -NX_A6NG13 43743 374 9.62 4 Endoplasmic reticulum membrane;Golgi apparatus membrane NA 1 PE2 -NX_A6NGA9 31353 273 8.84 15 Membrane NA 4 PE2 -NX_A6NGB0 39292 347 8.72 22 Membrane NA 1 PE3 -NX_A6NGB7 30293 291 8.62 19 Nucleus membrane;Membrane NA 4 PE1 -NX_A6NGB9 49458 483 10.16 7 Mitochondrion;Cytoplasm NA 0 PE1 -NX_A6NGC4 28733 264 10.14 17 Cytoplasmic vesicle;Nucleolus;Membrane NA 6 PE1 -NX_A6NGD5 55729 496 8.32 19 Nucleus NA 0 PE5 -NX_A6NGE4 67373 600 4.75 X NA NA 0 PE1 -NX_A6NGE7 19130 173 5.78 13 Peroxisome NA 0 PE5 -NX_A6NGG3 8520 77 9.6 9 NA NA 0 PE4 -NX_A6NGG8 139655 1288 8.4 2 Photoreceptor inner segment;Photoreceptor outer segment Retinitis pigmentosa 54 0 PE1 -NX_A6NGH7 38277 325 5.35 X NA NA 0 PE1 -NX_A6NGH8 46141 418 9.1 7 NA NA 0 PE2 -NX_A6NGJ6 51566 449 5.01 11 NA NA 0 PE2 -NX_A6NGK3 12651 116 4.3 X NA NA 0 PE1 -NX_A6NGN4 55354 478 8.95 1 NA NA 0 PE3 -NX_A6NGN9 36795 336 6.96 19 Nucleus;Secreted NA 0 PE1 -NX_A6NGQ2 17170 149 6.59 6 Cytoplasm NA 0 PE1 -NX_A6NGR9 77186 719 9.88 8 Nucleus NA 0 PE1 -NX_A6NGS2 14477 130 4.26 19 Nucleoplasm;Cytosol NA 0 PE1 -NX_A6NGU5 61502 568 6.68 22 Membrane NA 1 PE5 -NX_A6NGU7 7222 62 10.44 X NA NA 0 PE5 -NX_A6NGW2 192437 1772 5.26 15 Secreted NA 0 PE5 -NX_A6NGY1 30798 282 7.09 3 Nucleus NA 0 PE3 -NX_A6NGY3 17908 159 10.21 5 NA NA 0 PE1 -NX_A6NGY5 35849 319 8.3 11 Cell membrane NA 7 PE3 -NX_A6NGZ8 10777 99 8.46 X Cell membrane NA 1 PE3 -NX_A6NH00 34659 312 8.66 1 Cell membrane NA 7 PE3 -NX_A6NH11 31642 291 10.19 17 Cytoplasmic vesicle NA 0 PE1 -NX_A6NH13 15587 148 9.94 10 NA NA 0 PE2 -NX_A6NH21 56870 518 8.75 15 Membrane NA 10 PE2 -NX_A6NH52 24111 213 6.51 16 Cytoplasmic vesicle;Membrane NA 4 PE2 -NX_A6NH57 20591 179 5.44 17 NA NA 0 PE3 -NX_A6NHA9 34533 309 8.19 11 Cell membrane NA 7 PE3 -NX_A6NHC0 79144 703 5.1 1 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus membrane;Golgi apparatus NA 0 PE1 -NX_A6NHG4 14195 134 5.89 22 Cytoplasm NA 0 PE2 -NX_A6NHG9 35099 310 8.72 3 Cell membrane NA 7 PE2 -NX_A6NHJ4 73757 632 9.46 3 Nucleolus;Nucleus NA 0 PE1 -NX_A6NHL2 49909 446 5.68 10 Cytoskeleton NA 0 PE1 -NX_A6NHM9 56320 499 4.65 7 NA NA 0 PE5 -NX_A6NHN0 49422 477 8.6 3 Extracellular matrix NA 0 PE3 -NX_A6NHN6 51267 443 10.5 16 Secreted NA 0 PE2 -NX_A6NHP3 48290 402 9.78 7 NA NA 0 PE3 -NX_A6NHQ2 34803 334 10.35 5 Nucleolus NA 0 PE1 -NX_A6NHQ4 39322 379 9.77 17 Cytosol;Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_A6NHR8 46757 397 9.11 X NA NA 0 PE5 -NX_A6NHR9 226374 2005 6.95 18 Nucleoplasm;Nucleus;Chromosome Bosma arhinia microphthalmia syndrome;Facioscapulohumeral muscular dystrophy 2 0 PE1 -NX_A6NHS1 10211 94 4.1 11 NA NA 0 PE5 -NX_A6NHS7 37879 340 8.33 12 Membrane NA 1 PE3 -NX_A6NHT5 37825 357 7.85 10 Nucleus;Microtubule organizing center NA 0 PE1 -NX_A6NHX0 36056 329 5.02 7 Cytosol NA 0 PE1 -NX_A6NHY2 59088 528 8.33 5 NA NA 0 PE4 -NX_A6NHY6 7904 69 8.42 9 NA NA 0 PE4 -NX_A6NHZ5 56758 514 6.74 5 NA NA 0 PE1 -NX_A6NI03 51557 449 5.1 11 NA NA 0 PE5 -NX_A6NI15 20778 193 9.03 2 Nucleus NA 0 PE3 -NX_A6NI28 98569 874 8.18 11 Cytosol;Nucleus speckle NA 0 PE1 -NX_A6NI47 57067 508 6.64 14 NA NA 0 PE3 -NX_A6NI56 76013 674 8.62 16 Golgi apparatus;Cell membrane;Early endosome NA 0 PE1 -NX_A6NI61 24699 221 8.98 9 Cell membrane Carey-Fineman-Ziter syndrome 6 PE1 -NX_A6NI72 44817 391 9.2 7 Cytoplasm NA 0 PE5 -NX_A6NI73 32755 299 6.5 19 Cell membrane;Secreted NA 1 PE1 -NX_A6NI79 34796 296 5.57 5 Cell membrane;Cytoskeleton;Midbody;Golgi apparatus;Spindle NA 0 PE1 -NX_A6NI86 60902 522 4.83 15 NA NA 0 PE3 -NX_A6NI87 27343 242 10.65 5 NA NA 0 PE1 -NX_A6NIE6 38035 340 5.02 16 NA NA 0 PE5 -NX_A6NIE9 34063 313 6.58 16 Secreted NA 0 PE5 -NX_A6NIH7 28137 251 5.45 12 Cilium NA 0 PE1 -NX_A6NIJ5 50026 464 9.93 8 NA NA 0 PE5 -NX_A6NIJ9 35468 312 9.17 12 Cell membrane NA 7 PE3 -NX_A6NIK2 32714 292 6.88 11 Nucleoplasm;Nucleolus NA 0 PE2 -NX_A6NIL9 12312 109 8.89 16 Membrane NA 1 PE5 -NX_A6NIM6 65263 579 7.77 12 Membrane NA 11 PE1 -NX_A6NIN4 21006 190 9.23 17 NA NA 0 PE2 -NX_A6NIR3 75492 686 6.28 10 NA NA 0 PE2 -NX_A6NIU2 8470 74 4.97 21 NA NA 0 PE5 -NX_A6NIV6 63977 560 8.43 3 NA NA 0 PE1 -NX_A6NIX2 45124 430 8.53 19 Adherens junction;P-body;Nucleus NA 0 PE1 -NX_A6NIY4 47997 402 9.98 7 NA NA 0 PE3 -NX_A6NIZ1 20925 184 5.37 5 Cytosol;Cell membrane NA 0 PE2 -NX_A6NJ08 22976 208 11.47 19 NA NA 0 PE5 -NX_A6NJ46 28948 265 9.3 8 Nucleus NA 0 PE2 -NX_A6NJ64 45575 397 9.95 16 Nucleus NA 0 PE5 -NX_A6NJ69 5937 53 9.13 5 Cytoplasmic vesicle;Secreted NA 0 PE2 -NX_A6NJ78 46121 407 8.8 11 Cytoskeleton;Cell membrane;Golgi apparatus NA 0 PE1 -NX_A6NJ88 69022 616 5.68 X NA NA 0 PE5 -NX_A6NJB7 38716 356 10.48 19 Nucleolus;Nucleus NA 0 PE1 -NX_A6NJG2 33803 315 9.62 X NA NA 0 PE1 -NX_A6NJG6 35617 315 6.84 3 Nucleus NA 0 PE2 -NX_A6NJI1 13172 115 11.47 11 NA NA 0 PE2 -NX_A6NJI9 33656 287 8.92 7 NA NA 0 PE1 -NX_A6NJJ6 39779 358 4.78 19 NA NA 0 PE3 -NX_A6NJL1 55826 495 8.88 19 Nucleus NA 0 PE1 -NX_A6NJQ4 49661 464 9.91 8 NA NA 0 PE5 -NX_A6NJR5 34699 290 5.99 7 NA NA 0 PE5 -NX_A6NJT0 53690 531 6.74 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_A6NJU9 125964 1138 9.9 16 Membrane NA 1 PE3 -NX_A6NJV1 23421 201 10 2 Cytoplasmic vesicle;Nucleus membrane NA 0 PE1 -NX_A6NJW4 29314 275 6.15 17 Membrane NA 1 PE2 -NX_A6NJW9 23768 211 9.88 2 Cell membrane NA 1 PE5 -NX_A6NJY1 30828 282 7.66 Y Membrane NA 7 PE5 -NX_A6NJY4 8713 79 4.43 17 Membrane NA 2 PE5 -NX_A6NJZ3 35198 312 8.87 12 Cell membrane NA 7 PE2 -NX_A6NJZ7 180950 1639 6.34 22 Cytoskeleton NA 0 PE1 -NX_A6NK02 53678 468 7.79 4 NA NA 0 PE5 -NX_A6NK06 52628 481 7.01 13 Mitochondrion NA 0 PE1 -NX_A6NK44 18322 160 7.7 X Mitochondrion NA 0 PE1 -NX_A6NK53 76861 670 8.61 19 Nucleoplasm;Nucleus NA 0 PE2 -NX_A6NK58 25195 231 8.63 11 Mitochondrion;Cytoplasmic vesicle;Centrosome Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 0 PE1 -NX_A6NK59 65331 587 6.24 3 NA NA 0 PE2 -NX_A6NK75 65799 572 9.33 19 Nucleus NA 0 PE1 -NX_A6NK89 56900 507 5.29 11 Cytosol;Cytoplasmic vesicle;Centrosome;Spindle pole NA 0 PE1 -NX_A6NK97 60459 555 8.63 11 Membrane NA 11 PE2 -NX_A6NKB5 237277 2137 6.29 1 Endoplasmic reticulum;Membrane NA 15 PE2 -NX_A6NKC0 49804 464 9.88 8 NA NA 0 PE5 -NX_A6NKC9 49807 451 5.99 15 NA NA 0 PE4 -NX_A6NKD2 35100 308 5.3 Y NA NA 0 PE2 -NX_A6NKD9 45210 419 6.48 14 Nucleus speckle;Cell junction;Tight junction NA 0 PE1 -NX_A6NKF1 43553 404 9.04 11 Cytosol;Spindle;Centrosome NA 0 PE1 -NX_A6NKF2 44073 412 5.34 9 Nucleus NA 0 PE3 -NX_A6NKF7 17097 163 8.53 1 Membrane NA 2 PE1 -NX_A6NKG5 155048 1358 5.09 14 Cytosol;Membrane NA 2 PE1 -NX_A6NKH3 10583 93 10.22 11 NA NA 0 PE5 -NX_A6NKK0 35387 313 8.8 3 Cell membrane NA 7 PE2 -NX_A6NKL6 63928 621 10.1 18 Cytoskeleton;Membrane NA 2 PE1 -NX_A6NKN8 7476 68 6.28 1 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_A6NKP2 46869 422 9.66 16 NA NA 0 PE3 -NX_A6NKQ9 20468 187 9.02 19 Secreted NA 0 PE2 -NX_A6NKT7 197487 1758 5.95 2 NA NA 0 PE1 -NX_A6NKU9 63895 549 6.06 7 NA NA 0 PE2 -NX_A6NKW6 17663 160 5.88 5 Membrane NA 1 PE3 -NX_A6NKX1 13778 122 10.05 X NA NA 0 PE3 -NX_A6NKX4 58815 556 9.89 16 Membrane NA 12 PE2 -NX_A6NL05 18299 159 9.63 9 Membrane NA 1 PE3 -NX_A6NL08 35372 312 9.29 12 Cell membrane NA 7 PE3 -NX_A6NL26 34174 309 6.73 11 Cell membrane NA 7 PE3 -NX_A6NL46 37797 340 10.95 6 NA NA 0 PE3 -NX_A6NL82 15996 134 8.67 1 NA NA 0 PE1 -NX_A6NL88 56214 538 10.06 19 Postsynaptic density NA 1 PE1 -NX_A6NL99 37357 342 7.83 9 Membrane NA 8 PE5 -NX_A6NLC5 27769 250 4.85 3 Cytosol NA 0 PE1 -NX_A6NLC8 21962 198 5.72 5 NA NA 0 PE1 -NX_A6NLE4 20025 172 4.76 5 Cell membrane NA 1 PE2 -NX_A6NLF2 59772 546 9.86 18 Nucleus NA 0 PE3 -NX_A6NLI5 51540 450 5.3 11 NA NA 0 PE3 -NX_A6NLJ0 38769 364 11.07 15 Nucleus NA 0 PE1 -NX_A6NLP5 20896 189 5.02 11 Nucleoplasm NA 0 PE1 -NX_A6NLU0 32238 287 7.89 19 Cytoplasm;Nucleus NA 0 PE1 -NX_A6NLU5 30297 285 7.88 19 Membrane NA 1 PE1 -NX_A6NLW8 23817 204 9.51 19 Nucleus NA 0 PE3 -NX_A6NLX3 27806 237 4.93 17 NA NA 0 PE2 -NX_A6NLX4 15516 147 4.19 9 Membrane NA 1 PE1 -NX_A6NM03 35270 316 8.79 11 Cell membrane NA 7 PE2 -NX_A6NM10 31475 295 8.18 2 Membrane NA 6 PE2 -NX_A6NM11 188393 1700 5.33 17 Membrane NA 1 PE1 -NX_A6NM28 45791 416 10.23 X Nucleus NA 0 PE1 -NX_A6NM36 34034 301 9.48 18 NA NA 0 PE4 -NX_A6NM43 59514 557 5.91 7 Cytoplasm NA 0 PE5 -NX_A6NM45 24421 220 4.87 4 Cell membrane;Tight junction NA 4 PE5 -NX_A6NM62 140742 1247 8.11 1 Membrane NA 1 PE4 -NX_A6NM66 11668 108 8.23 21 NA NA 0 PE4 -NX_A6NM76 35119 312 9.04 12 Cell membrane NA 7 PE3 -NX_A6NMA1 12326 111 3.47 X NA NA 0 PE1 -NX_A6NMB1 52992 481 9.28 19 Membrane NA 1 PE2 -NX_A6NMB9 66603 653 6.3 12 NA NA 0 PE5 -NX_A6NMD0 24599 228 6.59 11 Cell membrane NA 2 PE1 -NX_A6NMD2 71775 632 8.5 15 NA NA 0 PE3 -NX_A6NMK7 20727 179 8.93 17 NA NA 0 PE2 -NX_A6NMK8 59204 535 8.39 5 NA NA 0 PE1 -NX_A6NML5 21425 194 8.15 3 Nucleolus;Endoplasmic reticulum;Membrane NA 5 PE2 -NX_A6NMN3 32092 283 4.67 10 Acrosome outer membrane;Acrosome NA 0 PE1 -NX_A6NMS3 36711 321 8.44 3 Cell membrane NA 7 PE3 -NX_A6NMS7 188258 1700 5.32 17 Membrane NA 1 PE1 -NX_A6NMT0 37283 343 9.54 11 Nucleus NA 0 PE3 -NX_A6NMU1 34901 304 8.28 11 Cell membrane NA 7 PE2 -NX_A6NMX2 27596 242 6.68 5 NA NA 0 PE1 -NX_A6NMY6 38659 339 6.49 9 Basement membrane;Melanosome NA 0 PE5 -NX_A6NMZ2 16468 147 8.43 3 Cilium NA 0 PE1 -NX_A6NMZ5 35341 311 7.99 11 Cell membrane NA 7 PE3 -NX_A6NMZ7 247173 2263 6.44 3 Extracellular matrix NA 0 PE1 -NX_A6NN06 10596 94 11.9 9 NA NA 0 PE5 -NX_A6NN14 145022 1252 9.58 19 Nucleus NA 0 PE2 -NX_A6NN73 67128 597 8.72 15 NA NA 0 PE3 -NX_A6NN90 63239 582 5.44 2 Nucleolus;Nucleus NA 0 PE1 -NX_A6NN92 23755 205 8.68 6 Cell membrane NA 4 PE5 -NX_A6NNA2 65249 597 11.68 7 Cytoskeleton;Cell membrane NA 0 PE2 -NX_A6NNA5 28672 263 8.74 10 Cytosol;Nucleolus;Nucleus NA 0 PE3 -NX_A6NNB3 14378 132 8.48 11 Cell membrane Osteogenesis imperfecta 5 2 PE1 -NX_A6NNC1 94058 897 10.28 5 Membrane NA 1 PE5 -NX_A6NND4 35503 320 6.21 11 Cell membrane NA 7 PE2 -NX_A6NNE9 43878 402 6.47 5 Cytoplasmic vesicle membrane NA 2 PE1 -NX_A6NNF4 85539 738 9.27 19 Nucleus NA 0 PE1 -NX_A6NNH2 49646 459 9.97 19 NA NA 0 PE1 -NX_A6NNJ1 49738 464 9.91 8 NA NA 0 PE5 -NX_A6NNL0 93984 878 8.12 10 NA NA 0 PE3 -NX_A6NNL5 18091 157 9.9 15 Cytosol;Cytoplasmic vesicle;Nucleolus;Secreted NA 0 PE1 -NX_A6NNM3 180952 1639 6.34 22 Cytoskeleton NA 0 PE2 -NX_A6NNM8 93645 815 9.12 15 NA NA 0 PE1 -NX_A6NNN8 46731 435 7.42 16 Membrane Foveal hypoplasia 2 11 PE1 -NX_A6NNP5 25253 214 9.33 13 NA NA 0 PE2 -NX_A6NNS2 34878 312 8.72 17 Secreted NA 0 PE1 -NX_A6NNT2 125041 1141 6.58 16 NA NA 0 PE1 -NX_A6NNV3 37499 312 8.38 7 NA NA 0 PE5 -NX_A6NNW6 68465 625 5.64 10 NA NA 0 PE1 -NX_A6NNX1 10810 92 9.57 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_A6NNY8 49630 438 6.75 X Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytosol Mental retardation, X-linked 105 0 PE1 -NX_A6NNZ2 49573 444 4.75 18 Cytoskeleton NA 0 PE1 -NX_A6NP11 57006 495 9.34 7 Nucleus NA 0 PE2 -NX_A6NP61 36010 321 9.27 13 NA NA 0 PE1 -NX_A6PVC2 94676 850 8.55 22 Cytoskeleton;Cilium;Cilium axoneme NA 0 PE2 -NX_A6PVI3 17685 153 6.89 X NA NA 0 PE3 -NX_A6PVL3 12832 124 9.51 1 Membrane NA 2 PE2 -NX_A6PVS8 73675 624 9.73 1 Cell membrane NA 0 PE1 -NX_A6PVY3 18145 158 4.84 1 NA NA 0 PE2 -NX_A6QL63 120884 1104 6.36 12 Nucleoplasm;Membrane NA 1 PE1 -NX_A6QL64 217465 1941 8.84 2 NA NA 0 PE1 -NX_A6XGL0 32585 299 5.75 19 Mitochondrion NA 0 PE1 -NX_A6ZKI3 13171 113 4.94 X NA NA 0 PE1 -NX_A7E2F4 70117 631 5.89 15 Golgi stack membrane NA 0 PE2 -NX_A7E2S9 28549 258 7.05 2 NA NA 0 PE1 -NX_A7E2U8 34376 309 9.64 4 Cytoplasmic vesicle;Centrosome NA 0 PE1 -NX_A7E2V4 197297 1837 6.35 10 Cytosol;Cell membrane NA 0 PE1 -NX_A7E2Y1 225845 1983 5.81 20 Membrane NA 0 PE1 -NX_A7KAX9 230529 2087 6.27 11 Endoplasmic reticulum membrane;Nucleolus;Golgi apparatus;Nucleoplasm;Cell cortex;Endosome membrane;Golgi apparatus membrane;Dendritic spine;Membrane;Postsynaptic density NA 0 PE1 -NX_A7MBM2 152003 1401 8.18 15 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 12 PE1 -NX_A7MCY6 67702 615 5.62 17 Nucleoplasm NA 0 PE1 -NX_A7MD48 68559 611 11.75 12 Nucleus NA 0 PE1 -NX_A7XYQ1 92658 873 7.77 6 Nucleoplasm;Cytoplasmic vesicle Mental retardation, anterior maxillary protrusion, and strabismus 0 PE1 -NX_A8CG34 125092 1229 10.38 7 Endoplasmic reticulum membrane;Nuclear pore complex;Nucleus membrane NA 1 PE1 -NX_A8K010 21118 186 10.18 6 NA NA 0 PE5 -NX_A8K0R7 87484 811 6.11 14 Nucleoplasm;Cytoplasm;Cell membrane NA 0 PE1 -NX_A8K0S8 39220 358 4.89 17 Nucleus NA 0 PE2 -NX_A8K0Z3 50328 465 5.49 9 Centriole;Early endosome membrane;Recycling endosome membrane;Late endosome;Autophagosome NA 0 PE1 -NX_A8K2U0 161107 1454 5.5 12 Secreted Otitis media 0 PE1 -NX_A8K4G0 22689 201 6.83 17 Cell membrane NA 1 PE1 -NX_A8K554 15437 130 6.04 7 NA NA 0 PE5 -NX_A8K5M9 19679 175 8.66 15 Mitochondrion NA 0 PE1 -NX_A8K7I4 100226 914 5.97 1 Extracellular space;Cell membrane NA 0 PE1 -NX_A8K830 16850 154 4.27 11 Cytoplasm NA 0 PE2 -NX_A8K855 71981 629 6.01 1 Cytosol;Cilium membrane;Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_A8K8P3 147664 1242 10.82 22 Centriole NA 0 PE1 -NX_A8K8V0 46168 405 9.28 16 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_A8K979 77401 691 9.12 16 Nucleus;Golgi apparatus NA 0 PE1 -NX_A8MPP1 101811 907 7.28 12 Nucleolus NA 0 PE1 -NX_A8MPS7 34466 323 5.96 22 Nucleoplasm NA 0 PE1 -NX_A8MPX8 71643 630 8.93 3 Nucleoplasm;Cytoskeleton NA 0 PE2 -NX_A8MPY1 54272 467 8.33 3 Postsynaptic cell membrane;Cell membrane NA 4 PE3 -NX_A8MQ03 15313 144 6.67 9 Cytoplasmic vesicle;Nucleus speckle;Midbody;Endoplasmic reticulum NA 0 PE1 -NX_A8MQ11 15170 134 10.61 7 NA NA 0 PE5 -NX_A8MQ14 125431 1090 9.02 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_A8MQ27 59270 555 8.76 5 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_A8MQB3 24325 221 9.82 17 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_A8MQT2 67278 603 6.46 15 Golgi stack membrane NA 0 PE2 -NX_A8MRT5 126459 1133 10.12 16 Membrane NA 1 PE2 -NX_A8MSI8 9374 78 9.69 17 NA NA 0 PE1 -NX_A8MT19 65945 583 6.51 15 NA NA 0 PE5 -NX_A8MT33 27397 242 4.99 16 Cytoskeleton NA 0 PE1 -NX_A8MT65 63592 544 9.01 12 Nucleus NA 0 PE2 -NX_A8MT66 19292 165 6.16 21 NA NA 0 PE5 -NX_A8MT69 8959 81 5.59 17 Kinetochore;Centromere;Nucleus NA 0 PE1 -NX_A8MT70 91426 800 5.43 3 NA NA 0 PE1 -NX_A8MTA8 30575 275 8.38 9 NA NA 0 PE1 -NX_A8MTB9 43320 384 5.94 19 Midbody NA 0 PE2 -NX_A8MTI9 41188 375 9 9 Secreted NA 0 PE5 -NX_A8MTJ3 40357 354 5.69 7 Cytoplasm NA 0 PE1 -NX_A8MTJ6 43326 420 8.51 2 Nucleus NA 0 PE1 -NX_A8MTL0 18048 148 10.05 3 NA NA 0 PE1 -NX_A8MTL3 33570 300 9.78 14 NA NA 0 PE1 -NX_A8MTL9 15355 139 5.27 18 Secreted NA 0 PE2 -NX_A8MTQ0 27003 251 9.43 2 Nucleus NA 0 PE2 -NX_A8MTT3 9336 80 9.7 2 Nucleoplasm;Mitochondrion membrane NA 1 PE1 -NX_A8MTW9 8750 85 10.5 2 Secreted NA 0 PE5 -NX_A8MTY0 71172 619 9.29 19 Nucleus NA 0 PE1 -NX_A8MTY7 17793 169 8.01 17 NA NA 0 PE1 -NX_A8MTZ0 10506 92 9.42 10 Cytoplasm;Cilium Bardet-Biedl syndrome 18 0 PE1 -NX_A8MTZ7 30355 269 5.21 12 NA NA 0 PE1 -NX_A8MU10 10262 97 9.79 17 NA NA 0 PE4 -NX_A8MU46 48953 457 4.7 11 I band;Nucleus;M line;Myofibril NA 0 PE1 -NX_A8MU76 37608 341 10.73 16 NA NA 0 PE3 -NX_A8MU93 13000 118 11.57 17 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 -NX_A8MUA0 37841 341 10.75 2 NA NA 0 PE3 -NX_A8MUH7 44056 402 5.4 1 NA NA 0 PE5 -NX_A8MUI8 37626 341 9.9 1 NA NA 0 PE3 -NX_A8MUK1 59683 530 8.35 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_A8MUL3 15836 147 7.71 10 NA NA 0 PE5 -NX_A8MUM7 16576 142 5.53 19 NA NA 0 PE2 -NX_A8MUN3 14205 132 9.1 17 Secreted NA 0 PE5 -NX_A8MUP2 25910 240 5.51 11 Mitochondrion NA 0 PE1 -NX_A8MUP6 32443 293 6.3 17 Membrane NA 4 PE3 -NX_A8MUU1 11299 101 7.66 7 NA NA 0 PE5 -NX_A8MUU9 55306 505 13.3 22 NA NA 0 PE5 -NX_A8MUV8 57972 499 9.3 7 Nucleus NA 0 PE5 -NX_A8MUX0 53912 517 5.37 17 NA NA 0 PE1 -NX_A8MUZ8 34765 300 9.37 8 Nucleus NA 0 PE2 -NX_A8MV23 46963 424 6.7 13 Secreted NA 0 PE1 -NX_A8MV24 17565 154 9.8 17 Cytoskeleton;Nucleolus NA 0 PE1 -NX_A8MV57 15138 137 5.89 1 NA NA 0 PE5 -NX_A8MV65 36009 326 5.9 3 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_A8MV72 34164 311 10.58 8 NA NA 0 PE5 -NX_A8MV81 11079 97 9.72 12 Membrane NA 2 PE3 -NX_A8MVA2 16800 160 7.95 17 NA NA 0 PE1 -NX_A8MVJ9 39722 347 8.28 9 NA NA 0 PE5 -NX_A8MVM7 73452 634 9.81 4 NA NA 0 PE5 -NX_A8MVS1 34857 300 9.31 8 Nucleus NA 0 PE3 -NX_A8MVS5 24753 230 6.82 19 Cytosol;Golgi apparatus;Cell membrane;Membrane NA 1 PE1 -NX_A8MVU1 41851 366 8.95 7 Cytoplasm NA 0 PE5 -NX_A8MVW0 87435 826 8.14 17 Membrane NA 1 PE1 -NX_A8MVW5 51407 462 6.09 7 Spindle;Golgi apparatus membrane;Midbody;Centrosome NA 1 PE1 -NX_A8MVX0 94633 844 6.37 2 Cytoplasmic vesicle NA 0 PE2 -NX_A8MVZ5 32612 291 8.7 1 Membrane NA 1 PE5 -NX_A8MW92 115010 1017 6.39 8 Nucleoplasm;Cell membrane NA 0 PE1 -NX_A8MW95 48153 431 4.78 1 Cytoplasm NA 0 PE1 -NX_A8MW99 44024 385 5.82 6 Chromosome NA 0 PE3 -NX_A8MWA4 34697 300 9.01 11 Nucleus NA 0 PE3 -NX_A8MWA6 49874 464 9.86 8 NA NA 0 PE5 -NX_A8MWD9 8544 76 8.93 19 Nucleus NA 0 PE5 -NX_A8MWE9 16428 144 5.04 20 NA NA 0 PE4 -NX_A8MWK0 56358 482 8.02 11 Endoplasmic reticulum membrane NA 4 PE5 -NX_A8MWL6 24647 223 4.38 15 Membrane NA 4 PE5 -NX_A8MWL7 12177 114 9.57 10 Membrane NA 4 PE5 -NX_A8MWP4 24535 228 9.77 21 NA NA 0 PE5 -NX_A8MWP6 18109 167 5.64 17 NA NA 0 PE2 -NX_A8MWV9 15007 139 8.6 21 Membrane NA 1 PE2 -NX_A8MWX3 51595 477 6.24 16 Early endosome membrane;Recycling endosome membrane NA 0 PE5 -NX_A8MWY0 113842 1029 5.75 7 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_A8MX19 49786 464 9.98 8 NA NA 0 PE5 -NX_A8MX34 35211 341 5.89 17 NA NA 0 PE3 -NX_A8MX76 79568 684 8.86 2 NA NA 0 PE1 -NX_A8MX80 37634 341 10.46 13 NA NA 0 PE3 -NX_A8MXD5 32294 290 7.48 4 Microvillus;Kinocilium;Stereocilium Deafness, autosomal recessive, 25 0 PE1 -NX_A8MXE2 42761 369 7.08 9 Golgi apparatus membrane NA 1 PE5 -NX_A8MXJ8 49840 464 9.86 8 NA NA 0 PE5 -NX_A8MXK1 22377 200 8.15 11 Axon;Dendrite;Endoplasmic reticulum;Cell membrane NA 1 PE3 -NX_A8MXK9 18008 166 6.09 17 NA NA 0 PE2 -NX_A8MXQ7 68295 604 6.18 8 NA NA 0 PE5 -NX_A8MXT2 37578 336 9.25 X NA NA 0 PE1 -NX_A8MXU0 8390 73 8.9 8 Secreted NA 0 PE5 -NX_A8MXV4 42233 375 7.28 19 Cytosol;Nucleolus;Nucleus;Peroxisome NA 0 PE1 -NX_A8MXV6 30100 281 9.53 17 Membrane NA 1 PE2 -NX_A8MXY4 100791 864 9.54 19 Nucleus NA 0 PE2 -NX_A8MXZ1 49910 464 9.98 8 NA NA 0 PE5 -NX_A8MXZ3 26333 250 8.05 17 NA NA 0 PE3 -NX_A8MY62 54653 500 8.75 1 NA NA 0 PE1 -NX_A8MYA2 54417 514 9.18 X NA NA 0 PE1 -NX_A8MYB1 35763 307 4.98 15 Membrane NA 1 PE3 -NX_A8MYJ7 60903 566 6.98 1 NA NA 0 PE2 -NX_A8MYP8 27280 253 10.42 22 NA NA 0 PE1 -NX_A8MYU2 129543 1149 8.08 8 Cell membrane NA 7 PE1 -NX_A8MYV0 40425 355 9.46 2 Cytoplasm;Flagellum NA 0 PE1 -NX_A8MYX2 18345 175 6.23 10 NA NA 0 PE2 -NX_A8MYZ0 51976 460 6.25 3 NA NA 0 PE3 -NX_A8MYZ5 13059 107 11.71 3 NA NA 0 PE1 -NX_A8MYZ6 50595 492 5.25 1 Cytoplasm;Nucleus NA 0 PE1 -NX_A8MZ25 18125 164 11.55 17 NA NA 0 PE5 -NX_A8MZ26 23937 197 8.95 5 NA NA 0 PE1 -NX_A8MZ36 33953 301 5.8 17 Nucleoplasm;Nucleus NA 0 PE1 -NX_A8MZ59 18626 168 5.68 19 Nucleolus;Nucleus NA 0 PE2 -NX_A8MZ97 21915 194 6.01 2 Centrosome;Membrane NA 1 PE1 -NX_A8MZA4 90952 724 5.06 15 NA NA 0 PE3 -NX_A8MZF0 35187 331 8.54 11 NA NA 0 PE1 -NX_A8MZG2 19564 182 8.54 16 NA NA 0 PE2 -NX_A8MZH6 14433 123 8.23 11 Secreted NA 0 PE5 -NX_A8TX70 289926 2615 6.5 3 Extracellular matrix NA 0 PE1 -NX_A9QM74 56938 516 5.73 7 Nucleus NA 0 PE1 -NX_A9UHW6 25423 222 5.23 17 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_A9YTQ3 76265 701 9.14 5 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_A9Z1Z3 200980 1794 5.88 20 Membrane NA 1 PE2 -NX_B0FP48 28385 263 8.4 7 Membrane NA 1 PE1 -NX_B0I1T2 116442 1018 8.96 7 Phagocytic cup;Cell membrane NA 0 PE1 -NX_B0YJ81 32388 288 9.1 10 Endoplasmic reticulum membrane Myopathy, congenital, with fiber-type disproportion 6 PE1 -NX_B1AH88 10537 102 8.81 22 NA NA 0 PE5 -NX_B1AJZ1 14253 125 7.82 1 NA NA 0 PE5 -NX_B1AJZ9 161904 1412 6.52 1 Nucleus NA 0 PE1 -NX_B1AK53 91733 854 6.47 1 Microvillus;Cytoplasmic vesicle;Cytoskeleton;Stereocilium Deafness, autosomal recessive, 36, with or without vestibular involvement 0 PE1 -NX_B1AK76 14245 121 8.82 X NA NA 0 PE5 -NX_B1AKI9 52107 464 5.22 20 Secreted NA 0 PE1 -NX_B1AL46 93979 878 7.97 10 NA NA 0 PE3 -NX_B1AL88 51493 458 6.2 13 Cytoplasmic vesicle;Nucleus;Centrosome;Membrane NA 2 PE1 -NX_B1AMM8 8554 73 6.39 9 NA NA 0 PE5 -NX_B1ANH7 12198 110 9.26 1 NA NA 0 PE5 -NX_B1ANS9 123631 1081 8.47 1 NA NA 0 PE1 -NX_B1ANY3 29405 271 8.89 9 NA NA 0 PE5 -NX_B1APH4 51624 448 8.07 10 Cytosol;Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE5 -NX_B1ATL7 31890 298 7.26 X NA NA 0 PE4 -NX_B2CW77 19958 178 11.27 10 Nucleus Cowden syndrome 4 0 PE1 -NX_B2RBV5 13369 119 8.49 4 NA NA 0 PE1 -NX_B2RC85 100547 870 7.16 7 NA NA 0 PE1 -NX_B2RD01 21052 187 6.54 16 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE2 -NX_B2RN74 36530 326 8.14 14 Cell membrane NA 7 PE2 -NX_B2RNN3 34713 333 8.23 13 Secreted NA 0 PE1 -NX_B2RPK0 24238 211 5.92 20 Nucleus;Chromosome NA 0 PE5 -NX_B2RTY4 292706 2548 9.03 15 Cytoplasm;Cell membrane;Membrane NA 1 PE1 -NX_B2RU33 61188 542 6.31 18 NA NA 0 PE2 -NX_B2RUY7 24570 222 5.06 2 Synapse;Secreted NA 0 PE1 -NX_B2RUZ4 8749 78 9.22 1 Cell membrane NA 1 PE1 -NX_B2RV13 19546 164 10.07 17 NA NA 0 PE1 -NX_B2RXF0 42370 380 9.95 7 Cell membrane;Membrane NA 6 PE1 -NX_B2RXF5 46491 422 8.85 14 Nucleoplasm;Cytoplasm;Nucleus Lethal congenital contracture syndrome 6 0 PE1 -NX_B2RXH2 56804 506 7.95 11 Nucleus NA 0 PE1 -NX_B2RXH4 77931 712 4.94 11 Nucleus NA 0 PE2 -NX_B2RXH8 32072 293 5.29 1 Nucleus NA 0 PE1 -NX_B3EWF7 35169 344 11.93 6 Nucleus NA 0 PE1 -NX_B3EWG3 9320 89 5.78 10 NA NA 0 PE1 -NX_B3EWG5 9320 89 5.78 10 NA NA 0 PE1 -NX_B3EWG6 9320 89 5.78 10 NA NA 0 PE1 -NX_B3GLJ2 11747 98 9.3 11 Secreted NA 0 PE1 -NX_B3KS81 80355 715 12.05 19 NA NA 0 PE1 -NX_B3KU38 62248 563 5.08 3 Axon;Cytoplasm NA 0 PE1 -NX_B3SHH9 24166 223 5.9 16 Cell membrane NA 4 PE2 -NX_B4DH59 103816 902 4.35 1 Cytoplasm NA 0 PE5 -NX_B4DJY2 12074 109 4.93 12 Membrane NA 2 PE1 -NX_B4DS77 46925 424 8.95 16 Synapse;Dendritic spine membrane NA 1 PE1 -NX_B4DU55 64577 563 9.63 5 Nucleus NA 0 PE1 -NX_B4DX44 49868 427 9.1 7 Nucleus NA 0 PE1 -NX_B4DXR9 67839 585 9.19 4 Nucleus NA 0 PE2 -NX_B4DYI2 124429 1134 9.42 9 Membrane NA 1 PE5 -NX_B4DZS4 34563 312 4.6 X NA NA 0 PE2 -NX_B4E2M5 27916 251 9.3 6 NA NA 0 PE2 -NX_B5MCN3 45364 397 6.63 22 Nucleoplasm NA 0 PE5 -NX_B5MCY1 221722 1934 6.67 2 NA NA 0 PE1 -NX_B5MD39 24102 225 5.75 22 NA NA 0 PE5 -NX_B5ME19 105473 914 5.45 16 Cytoplasm NA 0 PE1 -NX_B6A8C7 29474 271 8.87 19 Cell membrane NA 1 PE1 -NX_B6SEH8 52557 477 8.76 19 Membrane NA 1 PE2 -NX_B6SEH9 59317 535 8.87 19 Membrane NA 2 PE2 -NX_B7U540 48880 433 5.76 17 Cell membrane Thyrotoxic periodic paralysis 2 2 PE1 -NX_B7Z1M9 37583 353 11.24 1 NA NA 0 PE1 -NX_B7Z368 13757 130 9.83 10 NA NA 0 PE2 -NX_B7Z6K7 97337 855 9.14 19 NA NA 0 PE1 -NX_B7Z8K6 17085 153 9.42 14 Cell membrane NA 1 PE1 -NX_B7ZAP0 29038 253 5.28 1 NA NA 0 PE1 -NX_B7ZAQ6 52917 455 9.34 1 Golgi apparatus membrane;Endoplasmic reticulum NA 9 PE1 -NX_B7ZBB8 38019 358 4.88 6 NA NA 0 PE1 -NX_B7ZC32 108254 967 8.68 1 Mitochondrion membrane NA 0 PE3 -NX_B7ZW38 32029 293 5.48 1 Nucleus NA 0 PE1 -NX_B8ZZ34 41995 397 10.56 22 Membrane NA 1 PE1 -NX_B9A014 29214 251 8.7 21 NA NA 0 PE2 -NX_B9A064 23063 214 9.08 22 Secreted NA 0 PE1 -NX_B9A6J9 62187 549 9.2 17 Cell membrane NA 0 PE2 -NX_B9EJG8 27887 249 6.08 4 Lysosome membrane;Cell membrane NA 6 PE2 -NX_B9ZVM9 38357 353 7.18 6 NA NA 0 PE3 -NX_C4AMC7 49995 463 5.36 15 Early endosome membrane;Centriole;Autophagosome;Filopodium;Early endosome;Lamellipodium;Recycling endosome membrane NA 0 PE1 -NX_C9J069 106650 976 9.26 9 Cytosol;Adherens junction;Focal adhesion;Apical cell membrane;Cilium NA 0 PE1 -NX_C9J1S8 52496 452 8.74 11 NA NA 0 PE1 -NX_C9J202 24154 215 5.47 3 NA NA 0 PE3 -NX_C9J2P7 59676 530 8.22 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_C9J302 23001 202 8.57 4 NA NA 0 PE4 -NX_C9J3I9 11666 102 6.84 5 NA NA 0 PE1 -NX_C9J3V5 16880 150 10.33 14 Cytoplasm;Acrosome NA 0 PE1 -NX_C9J442 27532 243 8.94 22 Nucleolus;Nucleus;Secreted NA 0 PE2 -NX_C9J6K1 22444 198 6.97 19 Cytoplasmic vesicle NA 0 PE1 -NX_C9J798 90406 803 7.81 7 Cytosol;Cell membrane NA 0 PE2 -NX_C9J7I0 15200 137 4.35 7 Nucleoplasm NA 0 PE1 -NX_C9JBD0 14906 128 9.42 3 Nucleoplasm;Golgi apparatus NA 0 PE2 -NX_C9JC47 42896 383 11.26 3 NA NA 0 PE3 -NX_C9JCN9 8384 74 4.86 18 Nucleoplasm NA 0 PE2 -NX_C9JDP6 25394 229 5.37 11 Cell membrane;Tight junction NA 4 PE5 -NX_C9JDV5 16178 145 9.67 12 NA NA 0 PE2 -NX_C9JE40 61464 543 5 15 Cytoplasm;Nucleus Oocyte maturation defect 4 0 PE1 -NX_C9JFL3 7706 82 7.25 15 Cytoplasmic vesicle NA 0 PE1 -NX_C9JG80 126699 1138 10.08 16 Membrane NA 1 PE2 -NX_C9JH25 92712 899 6.27 7 Nucleoplasm;Membrane;Cell membrane;Peroxisome NA 5 PE1 -NX_C9JI98 18040 176 11.54 19 Membrane NA 2 PE1 -NX_C9JJ37 32365 291 6.21 1 NA NA 0 PE2 -NX_C9JJH3 59886 530 8.46 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_C9JL84 58297 531 9.11 8 Secreted NA 0 PE2 -NX_C9JLJ4 59694 530 8.22 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_C9JLR9 73197 678 5.82 11 Cytoskeleton NA 0 PE1 -NX_C9JLW8 10920 97 9.39 17 Cytosol;Stress granule;Nucleus NA 0 PE1 -NX_C9JN71 61540 531 9.55 19 Nucleolus;Nucleus NA 0 PE1 -NX_C9JPN9 59687 530 8.35 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_C9JQI7 76453 657 8.29 5 Membrane NA 2 PE2 -NX_C9JQL5 14796 133 9.61 12 Membrane NA 2 PE5 -NX_C9JR72 49485 458 5.47 15 Cytoplasm Nemaline myopathy 6 0 PE1 -NX_C9JRZ8 36537 316 6.23 7 Cytosol;Mitochondrion NA 0 PE1 -NX_C9JSJ3 70198 638 9.1 19 Nucleus NA 0 PE3 -NX_C9JTQ0 39620 380 11.04 15 NA NA 0 PE1 -NX_C9JUS6 16532 153 9.48 19 Secreted NA 0 PE2 -NX_C9JVI0 59630 530 8.22 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_C9JVW0 14668 142 10.69 19 Membrane NA 1 PE1 -NX_C9JXX5 10902 98 9.97 11 Secreted NA 0 PE2 -NX_D3DTV9 10428 90 12 17 Nucleus NA 0 PE5 -NX_D3W0D1 24008 207 5.83 12 Cell membrane NA 1 PE1 -NX_D6R901 59659 530 8.22 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_D6R9N7 59657 530 8.35 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_D6RA61 59671 530 8.35 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_D6RBM5 20302 183 7.13 4 Nucleus;Endoplasmic reticulum NA 0 PE5 -NX_D6RBQ6 59627 530 8.22 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_D6RCP7 59658 530 8.35 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_D6REC4 52293 459 10.55 4 Flagellum NA 0 PE1 -NX_D6RF30 68878 607 8.64 15 NA NA 0 PE3 -NX_D6RGH6 41720 385 5.62 5 Nucleus NA 0 PE1 -NX_D6RGX4 49883 464 9.82 4 NA NA 0 PE5 -NX_D6RIA3 190074 1793 9.11 4 NA NA 0 PE1 -NX_D6RJB6 59626 530 8.22 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_E0CX11 5265 47 9.1 7 Mitochondrion;Mitochondrion membrane NA 1 PE1 -NX_E2RYF6 173478 1773 3.9 6 Membrane NA 1 PE1 -NX_E2RYF7 26282 251 4.36 6 Secreted NA 0 PE2 -NX_E5RG02 19341 174 9.32 3 NA NA 0 PE3 -NX_E5RHQ5 129208 1161 10.06 16 Membrane NA 1 PE3 -NX_E5RIL1 28385 263 8.4 7 Membrane NA 1 PE1 -NX_E5RJ46 11413 101 11.36 8 NA NA 0 PE4 -NX_E5RJM6 41497 399 6.09 1 Nucleoplasm NA 0 PE1 -NX_E5RQL4 16268 147 9.21 2 Cytoplasmic vesicle NA 0 PE2 -NX_E7EML9 36995 344 8.46 3 Secreted NA 0 PE3 -NX_E7ERA6 26629 249 9.43 1 Membrane NA 1 PE1 -NX_E7ETH6 45541 402 8.73 19 Nucleus NA 0 PE1 -NX_E7EU14 19623 171 9.4 19 Cytosol NA 0 PE2 -NX_E7EW31 106917 1015 9.68 5 Nucleoplasm NA 0 PE1 -NX_E9PAV3 205422 2078 9.6 12 Cytoplasm;Nucleus NA 0 PE1 -NX_E9PB15 19074 166 4.81 17 NA NA 0 PE5 -NX_E9PGG2 41695 379 5.25 12 Nucleus NA 0 PE1 -NX_E9PI22 31050 279 6.08 8 NA NA 0 PE2 -NX_E9PIF3 42223 369 9.62 16 NA NA 0 PE3 -NX_E9PJ23 49162 425 10.38 16 NA NA 0 PE2 -NX_E9PJI5 42230 369 9.22 16 NA NA 0 PE1 -NX_E9PKD4 40105 350 9.48 16 NA NA 0 PE2 -NX_E9PQ53 13408 114 8.47 11 Mitochondrion inner membrane NA 1 PE1 -NX_E9PQR5 49617 432 10.15 16 NA NA 0 PE2 -NX_E9PQX1 13758 116 6.11 11 Membrane NA 3 PE2 -NX_E9PRG8 13798 122 11.69 11 NA NA 0 PE1 -NX_F2Z333 24218 226 9.11 1 Membrane NA 1 PE1 -NX_F2Z398 13273 122 5 13 NA NA 0 PE2 -NX_F2Z3F1 14123 127 9.23 5 NA NA 0 PE2 -NX_F2Z3M2 12668 114 5.7 17 NA NA 0 PE4 -NX_F5GYI3 40592 381 5.37 15 Nucleus NA 0 PE2 -NX_F5H284 18167 164 9.43 1 Cytoplasm NA 0 PE3 -NX_F5H4A9 25682 247 5.51 3 Membrane NA 1 PE1 -NX_F5H4B4 66188 570 9.39 22 Nucleoplasm NA 0 PE1 -NX_F7VJQ1 8691 73 9.24 20 Mitochondrion outer membrane NA 1 PE1 -NX_F8VTS6 32249 287 7.47 19 NA NA 0 PE2 -NX_F8W1W9 49181 429 10.44 16 NA NA 0 PE2 -NX_F8WBI6 71524 632 5.93 15 NA NA 0 PE2 -NX_F8WCM5 21537 200 5.93 11 NA NA 0 PE1 -NX_F8WFD2 40061 350 9.48 16 NA NA 0 PE3 -NX_G2XKQ0 11526 101 5.33 20 Nucleus NA 0 PE1 -NX_G3V0H7 71247 640 8.8 12 Cell membrane NA 11 PE5 -NX_G3V211 13510 115 9.43 12 NA NA 0 PE5 -NX_G9CGD6 100365 899 8.55 6 NA NA 0 PE1 -NX_H0UI37 11268 97 5.43 6 NA NA 0 PE3 -NX_H0Y354 16730 149 6.27 1 NA NA 0 PE3 -NX_H0Y7S4 44302 382 8.65 1 NA NA 0 PE5 -NX_H0YKK7 64493 550 4.78 15 NA NA 0 PE5 -NX_H0YL09 14853 131 5.27 15 NA NA 0 PE5 -NX_H0YL14 16083 139 10.48 9 Nucleoplasm;Cytoplasm;Nucleus;Membrane NA 2 PE1 -NX_H0YM25 102665 810 4.95 15 NA NA 0 PE3 -NX_H3BMG3 7091 65 10.3 7 Nucleolus NA 0 PE2 -NX_H3BN30 14216 126 9.41 16 NA NA 0 PE2 -NX_H3BNL1 23376 204 9.32 3 NA NA 0 PE1 -NX_H3BNL8 26547 230 9.09 6 NA NA 0 PE1 -NX_H3BPF8 70417 625 7.67 15 NA NA 0 PE3 -NX_H3BPM6 25451 223 5.83 3 Golgi apparatus NA 0 PE2 -NX_H3BQB6 30984 276 8.61 6 Cytoskeleton NA 0 PE1 -NX_H3BQJ8 15317 138 9.07 8 Cell membrane NA 0 PE3 -NX_H3BQL2 71644 631 7.69 15 NA NA 0 PE3 -NX_H3BQW9 12972 127 7.75 1 NA NA 0 PE2 -NX_H3BR10 12312 107 10.43 6 Membrane NA 2 PE1 -NX_H3BRN8 13763 121 8.49 15 Cytosol;Nucleus NA 0 PE1 -NX_H3BS89 33409 294 9.45 7 Cytoplasmic vesicle;Nucleolus;Membrane NA 3 PE1 -NX_H3BSY2 71498 632 6.65 15 NA NA 0 PE2 -NX_H3BTG2 14053 121 9.86 1 NA NA 0 PE1 -NX_H3BU77 8104 68 9.78 11 NA NA 0 PE2 -NX_H3BUK9 61708 544 5.75 15 NA NA 0 PE3 -NX_H3BV12 71646 632 5.98 15 NA NA 0 PE3 -NX_H3BV60 32819 316 11.72 19 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_H7BZ55 185872 1655 5.42 2 NA NA 0 PE5 -NX_H7C241 24226 214 8.21 X Cell membrane;Tight junction NA 4 PE3 -NX_H7C350 43548 402 8.61 22 Nucleoplasm;Nucleus;Membrane NA 1 PE1 -NX_I0J062 22842 215 12.21 11 Nucleolus NA 0 PE2 -NX_I1YAP6 52450 450 8.59 11 NA NA 0 PE2 -NX_I3L0S3 21949 204 11.32 16 NA NA 0 PE5 -NX_I3L1E1 19614 186 6.96 19 NA NA 0 PE1 -NX_I3L273 56104 518 5.64 19 Golgi apparatus membrane NA 1 PE3 -NX_I3L3R5 30352 266 5.22 19 Secreted NA 0 PE1 -NX_I6L899 71490 631 5.98 15 NA NA 0 PE1 -NX_J3KSC0 14903 135 7.65 18 NA NA 0 PE5 -NX_K7EIQ3 11601 104 8.99 19 NA NA 0 PE4 -NX_K7EJ46 14570 135 6.06 16 Cytosol;Nucleoplasm;Membrane NA 1 PE1 -NX_K9M1U5 19675 179 11.29 19 Cytoplasm;Secreted NA 0 PE1 -NX_L0R6Q1 11133 103 7.81 5 Membrane NA 1 PE1 -NX_L0R819 11250 96 8.83 2 Cytoplasm NA 0 PE1 -NX_L0R8F8 8445 70 10.59 22 Mitochondrion matrix NA 0 PE1 -NX_M0QZC1 34789 329 9.43 19 Membrane NA 1 PE3 -NX_M5A8F1 18128 160 9.24 21 Secreted NA 0 PE1 -NX_O00110 23826 214 10.2 19 Nucleus NA 0 PE3 -NX_O00115 39581 360 8.3 19 Lysosome NA 0 PE1 -NX_O00116 72912 658 6.99 2 Peroxisome membrane;Peroxisome Rhizomelic chondrodysplasia punctata 3 0 PE1 -NX_O00124 30541 270 7.63 8 Nucleoplasm;Endoplasmic reticulum membrane;Nucleolus;Endoplasmic reticulum NA 2 PE1 -NX_O00139 79955 706 6.28 5 Nucleolus;Cytoplasm;Centrosome;Nucleus;Spindle;Spindle pole Cortical dysplasia, complex, with other brain malformations 3 0 PE1 -NX_O00141 48942 431 8.7 6 Endoplasmic reticulum membrane;Nucleus speckle;Cytoplasm;Cell membrane;Nucleus;Mitochondrion NA 0 PE1 -NX_O00142 31005 265 8.71 16 Mitochondrion Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3;Mitochondrial DNA depletion syndrome 2 0 PE1 -NX_O00144 64466 591 8.63 7 Cell membrane NA 7 PE2 -NX_O00148 49130 427 5.46 19 Cytoplasm;Nucleus NA 0 PE1 -NX_O00151 36072 329 6.56 10 Cell membrane;Cytoskeleton;Cell junction;Z line;Cytoplasm NA 0 PE1 -NX_O00154 41796 380 8.85 1 Mitochondrion;Cytoplasm;Cytosol;Nucleoplasm NA 0 PE1 -NX_O00155 38779 361 9.56 1 Cell membrane NA 7 PE1 -NX_O00159 121682 1063 9.46 17 Nucleolus;Ruffle;Nucleoplasm;Cytoplasm;Nuclear pore complex;Cell membrane;Cytoplasmic vesicle;Nucleus;Stereocilium membrane NA 0 PE1 -NX_O00160 124844 1098 9.21 19 NA NA 0 PE1 -NX_O00161 23354 211 4.89 15 Synaptosome;Cell membrane NA 0 PE1 -NX_O00165 31621 279 4.76 1 P-body;Nucleus membrane;Cytoplasm;Cell cortex;Endoplasmic reticulum;Cytoplasmic vesicle;Sarcoplasmic reticulum;Nucleus;Cell membrane;Mitochondrion Neutropenia, severe congenital 3, autosomal recessive 0 PE1 -NX_O00167 59232 538 6.02 20 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_O00168 10441 92 9.35 19 Nucleolus;Cytosol;Apical cell membrane;Nucleus;Sarcolemma;Caveola NA 1 PE1 -NX_O00170 37636 330 5.88 11 Cytosol;Cytoplasm Pituitary adenoma 1, multiple types;Prolactin-secreting pituitary adenoma 0 PE1 -NX_O00175 13134 119 10 7 Secreted NA 0 PE1 -NX_O00178 72454 669 8.6 22 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_O00180 38143 336 5.94 1 Synapse;Apical cell membrane;Perikaryon;Cell membrane;Cytoplasmic vesicle;Dendrite;Recycling endosome;Cell projection NA 4 PE1 -NX_O00182 39518 355 9.34 17 Cytoplasm;Nucleus;Secreted NA 0 PE1 -NX_O00186 67764 592 7.98 1 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_O00187 75702 686 5.39 1 Golgi apparatus;Secreted MASP2 deficiency 0 PE1 -NX_O00189 49977 453 6.71 7 trans-Golgi network membrane;Early endosome Spastic paraplegia 50, autosomal recessive 0 PE1 -NX_O00192 104642 962 6.38 22 Cell junction;Cell membrane NA 0 PE1 -NX_O00193 20333 183 4.57 11 Nucleoplasm;Endoplasmic reticulum NA 0 PE1 -NX_O00194 24608 218 5.35 18 Cytosol;Cell membrane;Golgi apparatus;Membrane NA 0 PE1 -NX_O00198 9884 91 11.75 12 Mitochondrion;Membrane NA 1 PE1 -NX_O00203 121320 1094 5.75 5 Nucleoplasm;Clathrin-coated vesicle membrane;Golgi apparatus Hermansky-Pudlak syndrome 2 0 PE1 -NX_O00204 41308 365 5.24 19 Cytosol;Cytoplasmic vesicle;Nucleus;Microsome;Cytoplasm Ichthyosis, congenital, autosomal recessive 14 0 PE1 -NX_O00206 95680 839 5.88 9 Cytosol;Cell membrane;Golgi apparatus;Early endosome NA 1 PE1 -NX_O00212 23413 210 8.15 11 Cell membrane;Early endosome NA 0 PE1 -NX_O00213 77244 710 4.98 11 Nucleus speckle;Nucleus;Growth cone;Cell membrane;Cytoplasm NA 0 PE1 -NX_O00214 35808 317 8.33 1 Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_O00217 23705 210 6 11 Mitochondrion Leigh syndrome 0 PE1 -NX_O00219 62998 553 8.77 16 Cytoskeleton;Membrane NA 7 PE1 -NX_O00220 50089 468 6.64 8 Nucleoplasm;Membrane NA 1 PE1 -NX_O00221 52864 500 6.22 6 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_O00222 101741 908 8.49 7 Cell membrane NA 7 PE1 -NX_O00230 11532 105 8.84 1 Secreted NA 0 PE2 -NX_O00231 47464 422 6.08 17 Cytosol;Nucleus;Golgi apparatus NA 0 PE1 -NX_O00232 52904 456 7.53 17 Cytosol;Cytoplasm;Cytoskeleton;Nucleus Stankiewicz-Isidor syndrome 0 PE1 -NX_O00233 24682 223 6.46 12 Cytosol;Cell membrane NA 0 PE1 -NX_O00237 79405 685 5.45 2 Endoplasmic reticulum membrane NA 4 PE1 -NX_O00238 56930 502 7.78 4 Cell membrane;Membrane Acromesomelic dysplasia, Demirhan type;Brachydactyly A2;Brachydactyly A1, D 1 PE1 -NX_O00241 43211 398 6.06 20 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_O00244 7402 68 6.71 5 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_O00253 14440 132 7.44 16 Golgi apparatus lumen;Secreted Obesity 0 PE1 -NX_O00254 42508 374 8.56 5 Cell membrane;Endoplasmic reticulum NA 7 PE1 -NX_O00255 68023 615 6.14 11 Nucleoplasm;Cytosol;Nucleus Familial multiple endocrine neoplasia type I 0 PE1 -NX_O00257 61368 560 9.41 17 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_O00258 19780 174 9.71 21 Endoplasmic reticulum membrane NA 3 PE1 -NX_O00264 21671 195 4.56 X Microsome membrane;Nucleolus;Smooth endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_O00267 121000 1087 4.95 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_O00268 110114 1085 9.95 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_O00270 35075 319 9.37 6 Cell membrane NA 7 PE2 -NX_O00273 36522 331 4.68 1 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_O00287 28232 272 5.41 13 Nucleus speckle;Nucleus Bare lymphocyte syndrome 2 0 PE1 -NX_O00291 116221 1037 5.2 7 Cytoplasmic vesicle;Cytoplasm;Nucleus;Clathrin-coated vesicle membrane;Endomembrane system NA 0 PE1 -NX_O00292 40920 366 8.91 1 Secreted Left-right axis malformations 0 PE1 -NX_O00294 60609 542 9.49 6 Cytoplasm;Synapse;Cell membrane;Secreted Leber congenital amaurosis 15;Retinitis pigmentosa 14 0 PE1 -NX_O00295 58664 520 8.31 19 Cytoplasm;Secreted NA 0 PE1 -NX_O00299 26923 241 5.09 6 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleus membrane NA 1 PE1 -NX_O00300 46026 401 8.66 8 Secreted Paget disease of bone 5, juvenile-onset 0 PE1 -NX_O00303 37564 357 5.24 11 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 -NX_O00305 58169 520 9.37 2 NA Episodic ataxia 5;Epilepsy, idiopathic generalized 9;Juvenile myoclonic epilepsy 6 0 PE1 -NX_O00308 98912 870 6.67 16 Nucleus NA 0 PE1 -NX_O00311 63888 574 8.96 1 Nucleoplasm;Spindle;Nucleus;Cytoskeleton NA 0 PE1 -NX_O00321 36633 342 5.88 19 Nucleus NA 0 PE2 -NX_O00322 28879 258 5.16 19 Membrane NA 4 PE1 -NX_O00327 68762 626 6.4 11 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;PML body NA 0 PE1 -NX_O00329 119479 1044 6.79 1 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton Activated PI3K-delta syndrome 0 PE1 -NX_O00330 54122 501 8.8 11 Mitochondrion matrix;Mitochondrion;Nucleus;Cell membrane Pyruvate dehydrogenase E3-binding protein deficiency 0 PE1 -NX_O00337 71584 649 7.77 15 Cell membrane NA 13 PE1 -NX_O00338 34880 296 7.12 2 Cytoplasm NA 0 PE1 -NX_O00339 106837 956 5.86 8 Secreted NA 0 PE1 -NX_O00341 60658 560 6.33 1 Membrane NA 10 PE2 -NX_O00358 38076 373 9.62 9 Nucleus Bamforth-Lazarus syndrome;Thyroid cancer, non-medullary, 4 0 PE1 -NX_O00370 149012 1275 9.68 unknown NA NA 0 PE1 -NX_O00391 82578 747 9.13 1 Cytoplasmic vesicle;Extracellular space;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_O00398 38774 339 9.26 X Cell membrane NA 7 PE1 -NX_O00399 20747 190 5.94 8 Kinetochore;Cytosol;Cytoskeleton;Nucleolus;Cell membrane NA 0 PE1 -NX_O00400 60909 549 6.98 3 Endoplasmic reticulum membrane;Nucleus Congenital cataracts, hearing loss, and neurodegeneration;Spastic paraplegia 42, autosomal dominant 11 PE1 -NX_O00401 54827 505 8.05 7 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_O00408 105717 941 5.22 11 Cytosol;Cytoplasm;Cell membrane;Mitochondrion outer membrane;Mitochondrion;Mitochondrion inner membrane;Mitochondrion matrix NA 0 PE1 -NX_O00409 53835 490 6.19 14 Nucleus;Cell membrane NA 0 PE1 -NX_O00410 123630 1097 4.83 13 Cytosol;Cytoplasm;Nucleolus;Nucleus;Nucleoplasm NA 0 PE1 -NX_O00411 138620 1230 9.19 19 Mitochondrion NA 0 PE1 -NX_O00418 82144 725 5.16 16 Nucleoplasm NA 0 PE1 -NX_O00421 39513 344 7.92 3 Cell membrane NA 7 PE1 -NX_O00422 17561 153 9.38 13 Cytosol;Nucleus speckle;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_O00423 89861 815 6.61 14 Cytoplasm;Perinuclear region;Cytoskeleton Band heterotopia 0 PE1 -NX_O00425 63705 579 8.99 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_O00429 81877 736 6.37 12 Synaptic vesicle membrane;Golgi apparatus;Cytosol;Clathrin-coated pit;Endomembrane system;Cytoplasmic vesicle;Peroxisome;Mitochondrion outer membrane Optic atrophy 5;Encephalopathy due to defective mitochondrial and peroxisomal fission 1 0 PE1 -NX_O00442 39337 366 8.01 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_O00443 190680 1686 8.25 11 Cytoplasm;Nucleus;Clathrin-coated vesicle;Golgi apparatus;Cell membrane NA 0 PE1 -NX_O00444 108972 970 8.79 4 Centriole;Cytosol;Nucleolus;Centrosome;Cleavage furrow Microcephaly and chorioretinopathy, autosomal recessive, 2 0 PE1 -NX_O00445 42900 386 9.27 19 Synaptic vesicle membrane;Recycling endosome membrane NA 1 PE1 -NX_O00451 51544 464 8 8 Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_O00453 10792 97 8.43 6 Endomembrane system;Golgi apparatus membrane;Membrane NA 1 PE1 -NX_O00458 50269 451 6.8 7 Cytosol;Cell membrane NA 0 PE1 -NX_O00459 81545 728 6.03 19 Golgi apparatus Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 PE1 -NX_O00461 81880 696 4.73 3 Endosome membrane;Golgi stack membrane;Golgi apparatus;Membrane NA 1 PE1 -NX_O00462 100895 879 5.33 4 Cytoplasmic vesicle;Lysosome Mannosidosis, beta A, lysosomal 0 PE1 -NX_O00463 64406 557 7.26 1 Cytosol;Cytoplasm NA 0 PE1 -NX_O00468 217320 2068 6.01 1 Cytosol;Synapse;Cell membrane;Extracellular matrix Myasthenic syndrome, congenital, 8 0 PE1 -NX_O00469 84686 737 6.24 3 Cytosol;Rough endoplasmic reticulum membrane;Nucleolus Bruck syndrome 2 0 PE1 -NX_O00470 43016 390 5.86 2 Nucleoplasm;Nucleus Restless legs syndrome 7 0 PE1 -NX_O00471 81853 708 6.27 14 Cytoplasm;Midbody NA 0 PE1 -NX_O00472 72324 640 9.09 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_O00476 46106 420 8.69 6 Endoplasmic reticulum membrane;Cell membrane NA 8 PE1 -NX_O00478 65002 584 5.37 6 Cell membrane NA 1 PE1 -NX_O00479 9539 90 10.48 6 Nucleus NA 0 PE1 -NX_O00481 57677 513 8.23 6 Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_O00482 61331 541 8.08 1 Nucleus speckle;Nucleus NA 0 PE1 -NX_O00483 9370 81 9.42 7 Mitochondrion inner membrane Leigh syndrome 0 PE1 -NX_O00487 34577 310 6.06 2 Nucleoplasm NA 0 PE1 -NX_O00488 15199 134 9.85 1 Nucleolus;Nucleus NA 0 PE1 -NX_O00499 64699 593 4.97 2 Cytosol;Cytoplasm;Endosome;Nucleus;Sarcolemma Myopathy, centronuclear, 2 0 PE1 -NX_O00501 23147 218 8.25 22 Tight junction;Cell membrane NA 4 PE1 -NX_O00505 57811 521 4.8 13 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_O00506 48112 426 6.27 2 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_O00507 291077 2555 5.56 Y Cytoplasmic vesicle;Cytoplasm Spermatogenic failure Y-linked 2 0 PE1 -NX_O00512 149290 1426 8.99 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_O00515 57131 517 9.67 1 Cytoskeleton;Basement membrane NA 0 PE1 -NX_O00519 63066 579 7.82 1 Cytosol;Cytoskeleton;Endomembrane system NA 1 PE1 -NX_O00522 84348 736 8.63 7 Cytoplasmic vesicle;Cytoskeleton;Cell junction;Cell membrane Cerebral cavernous malformations 1 0 PE1 -NX_O00526 19438 184 10.41 11 Cell membrane;Endoplasmic reticulum NA 1 PE1 -NX_O00533 135071 1208 5.51 3 Cell membrane;Extracellular matrix NA 1 PE1 -NX_O00534 86489 786 6.13 11 Nucleus NA 0 PE1 -NX_O00541 68003 588 6.93 22 Nucleoplasm;Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_O00548 78056 723 5.85 6 Nucleoplasm;Adherens junction;Apical cell membrane;Membrane raft NA 1 PE1 -NX_O00555 282564 2506 9 19 Cell membrane;Endoplasmic reticulum Epileptic encephalopathy, early infantile, 42;Spinocerebellar ataxia 6;Episodic ataxia 2;Migraine, familial hemiplegic, 1 24 PE1 -NX_O00559 24377 213 6.04 8 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_O00560 32444 298 7.06 8 Endoplasmic reticulum membrane;Melanosome;Nucleus membrane;Cytosol;Cell membrane;Membrane raft;Nucleoplasm;Focal adhesion;Nucleus;Adherens junction;Cytoskeleton;Exosome NA 0 PE1 -NX_O00562 134848 1244 5.64 11 Endoplasmic reticulum membrane;Golgi stack membrane;Cleavage furrow;Cytosol;Cytoplasm;Lipid droplet;Microtubule organizing center;Midbody NA 0 PE1 -NX_O00566 78864 681 4.77 2 Nucleolus;Chromosome NA 0 PE1 -NX_O00567 66050 594 9.24 20 Nucleoplasm;Cytoplasm;Nucleolus Spinocerebellar ataxia 36 0 PE1 -NX_O00570 39023 391 9.7 13 Nucleus NA 0 PE1 -NX_O00571 73243 662 6.73 X Cytoplasm;Nucleus speckle;Mitochondrion outer membrane Mental retardation, X-linked 102 0 PE1 -NX_O00574 39280 342 8.28 3 Cell membrane NA 7 PE2 -NX_O00584 29481 256 6.66 6 Lysosome lumen;Endoplasmic reticulum lumen;Secreted Leukoencephalopathy, cystic, without megalencephaly 0 PE1 -NX_O00585 14646 134 10.13 9 Secreted NA 0 PE1 -NX_O00587 36202 321 9.01 22 Cytoskeleton;Golgi apparatus membrane NA 1 PE1 -NX_O00590 43443 384 7.61 3 Nucleoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol;Early endosome;Recycling endosome NA 7 PE1 -NX_O00591 50640 440 6.55 5 Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_O00592 58635 558 5.28 7 Apical cell membrane;Ruffle;Microvillus;Cell membrane;Microtubule organizing center;Cytoplasmic vesicle;Filopodium;Membrane;Lamellipodium;Membrane raft NA 1 PE1 -NX_O00602 35078 326 6.39 9 Cell membrane;Secreted NA 0 PE1 -NX_O00622 42027 381 8.64 1 Secreted NA 0 PE1 -NX_O00623 40797 359 9.21 17 Peroxisome membrane Peroxisome biogenesis disorder 3A;Peroxisome biogenesis disorder complementation group 3;Peroxisome biogenesis disorder 3B 2 PE1 -NX_O00624 47277 439 8.85 6 Membrane NA 9 PE2 -NX_O00625 32113 290 6.42 X Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_O00626 10625 93 8.8 16 Secreted NA 0 PE1 -NX_O00628 35892 323 5.41 6 Cytoplasmic vesicle;Nucleoplasm;Peroxisome;Cytoplasm Peroxisome biogenesis disorder complementation group 11;Rhizomelic chondrodysplasia punctata 1;Peroxisome biogenesis disorder 9B 0 PE1 -NX_O00629 57887 521 4.8 3 Cytoplasm;Nucleus NA 0 PE1 -NX_O00631 3762 31 8.34 11 Endoplasmic reticulum membrane;Cytoskeleton;Sarcoplasmic reticulum membrane NA 1 PE1 -NX_O00634 61466 580 9.2 16 Extracellular matrix NA 0 PE1 -NX_O00635 53416 465 6.61 6 Centrosome;Cell membrane;Cell junction NA 0 PE1 -NX_O00712 47442 420 9.01 9 Nucleolus;Nucleus NA 0 PE1 -NX_O00716 49162 465 5.29 6 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm NA 0 PE1 -NX_O00743 35144 305 5.43 9 Mitochondrion;Cytoplasm NA 0 PE1 -NX_O00744 43000 389 9.37 12 Extracellular matrix;Golgi apparatus;Secreted Split-hand/foot malformation 6;Tooth agenesis, selective, 8 0 PE1 -NX_O00746 20659 187 10.3 16 Mitochondrion matrix;Mitochondrion;Mitochondrion intermembrane space NA 0 PE1 -NX_O00748 61807 559 5.71 16 Cytosol;Endoplasmic reticulum lumen;Golgi apparatus;Endoplasmic reticulum NA 0 PE1 -NX_O00750 184768 1634 6.95 1 Nucleoplasm;Microsome;Endoplasmic reticulum;Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_O00754 113744 1011 6.84 19 Nucleoplasm;Cytoplasmic vesicle;Lysosome Mannosidosis, alpha B, lysosomal 0 PE1 -NX_O00755 39005 349 9.05 3 Secreted;Extracellular matrix Limb pelvis hypoplasia aplasia syndrome;Fuhrmann syndrome 0 PE1 -NX_O00757 36743 339 6.84 9 Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;Cell junction;Z line NA 0 PE1 -NX_O00762 19652 179 6.83 20 Cytosol;Cell membrane NA 0 PE1 -NX_O00763 276541 2458 6.05 12 Mitochondrion;Nucleus;Endomembrane system NA 0 PE1 -NX_O00764 35102 312 5.75 21 Cytoplasm;Nucleus NA 0 PE1 -NX_O00767 41523 359 9.07 10 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 4 PE1 -NX_O14490 108873 977 6.66 18 Postsynaptic density;Synapse;Cell membrane NA 0 PE1 -NX_O14492 67738 632 5.85 7 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_O14493 22077 209 8.38 7 Cell membrane;Tight junction NA 4 PE1 -NX_O14494 32156 284 8.1 5 Cell membrane NA 6 PE1 -NX_O14495 35116 311 9.31 1 trans-Golgi network membrane;Golgi apparatus;Cell membrane NA 6 PE1 -NX_O14497 242045 2285 6.24 1 Nucleoplasm;Nucleus Coffin-Siris syndrome 2 0 PE1 -NX_O14498 45997 428 5 15 Cell membrane;Golgi apparatus;Secreted NA 0 PE1 -NX_O14503 45510 412 8.3 3 Cytoplasm;Nucleus NA 0 PE1 -NX_O14508 22172 198 8.9 12 Endoplasmic reticulum NA 0 PE1 -NX_O14511 91679 850 9.51 5 Nucleolus;Nucleus;Cell membrane;Secreted NA 1 PE1 -NX_O14512 62969 581 8.35 17 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_O14513 208537 1909 8.34 2 Cytosol;Nucleolus;Golgi apparatus;Cell membrane NA 0 PE1 -NX_O14514 173501 1584 8.27 8 Phagocytic cup;Secreted;Cell membrane;Focal adhesion;Dendritic spine;Postsynaptic density NA 7 PE1 -NX_O14519 12365 115 9.41 12 Nucleoplasm NA 0 PE1 -NX_O14520 37232 342 9.04 9 Membrane NA 6 PE1 -NX_O14521 17043 159 8.92 11 Mitochondrion inner membrane Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;Mitochondrial complex II deficiency 3 PE1 -NX_O14522 162134 1441 6.44 20 Membrane NA 1 PE1 -NX_O14523 76181 706 7.61 11 Endoplasmic reticulum membrane;Nucleolus;Nucleus membrane;Cytosol;Cell membrane;Nucleus NA 1 PE1 -NX_O14524 50640 444 6.56 12 Nucleoplasm;Nucleus inner membrane;Nucleus envelope NA 5 PE1 -NX_O14525 144913 1302 5.09 1 Endosome;Perikaryon;Golgi apparatus;Cell membrane;Cytoplasmic vesicle;Clathrin-coated vesicle NA 2 PE1 -NX_O14526 96861 889 6.51 19 Cytosol;Nucleoplasm;Clathrin-coated pit NA 0 PE1 -NX_O14529 161677 1486 5.38 12 Nucleus NA 0 PE1 -NX_O14530 26534 226 5.61 2 Cytosol;Cytoplasm;Nucleus;Centrosome;Midbody NA 0 PE1 -NX_O14531 61878 572 6.64 10 Cytoplasmic vesicle;Cytoplasm;Mitochondrion NA 0 PE1 -NX_O14543 24770 225 8.97 17 Cytosol NA 0 PE1 -NX_O14544 59528 535 6.79 18 Cytosol;Nucleus speckle NA 0 PE1 -NX_O14545 64841 582 5.19 12 Nucleoplasm;Cytosol NA 0 PE1 -NX_O14548 12615 114 9.43 2 Mitochondrion;Nucleolus;Mitochondrion inner membrane NA 0 PE1 -NX_O14556 44501 408 8.39 19 Nucleoplasm;Cytoplasm;Centrosome NA 0 PE1 -NX_O14558 17136 160 5.95 19 Cytoplasm;Nucleus;Secreted NA 0 PE1 -NX_O14559 137213 1287 9.05 19 Cytosol;Cytoskeleton;Cell membrane NA 0 PE1 -NX_O14561 17417 156 4.82 16 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_O14562 33382 309 5.55 16 Nucleolus;Nucleus NA 0 PE1 -NX_O14569 23974 222 9.93 3 Endoplasmic reticulum membrane;Cytoplasmic vesicle membrane NA 6 PE1 -NX_O14576 72955 645 5 7 Kinetochore;Cytoplasm;Spindle pole NA 0 PE1 -NX_O14578 231431 2027 6.16 12 Cytosol;Cytoplasm Microcephaly 17, primary, autosomal recessive 0 PE1 -NX_O14579 34482 308 4.98 19 COPI-coated vesicle membrane;Cytoplasm;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 -NX_O14581 34013 309 6.48 19 Cell membrane NA 7 PE2 -NX_O14593 28102 260 4.45 19 Nucleoplasm;Cytoplasm;Nucleus Bare lymphocyte syndrome 2 0 PE1 -NX_O14594 143093 1321 5.22 19 Cytoplasmic vesicle;Centrosome;Secreted NA 0 PE1 -NX_O14595 30664 271 5.34 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_O14598 12917 125 9.43 Y NA NA 0 PE1 -NX_O14599 12063 106 10.19 Y NA NA 0 PE1 -NX_O14602 16442 144 5.07 Y NA NA 0 PE1 -NX_O14603 16512 147 8.27 Y NA NA 0 PE1 -NX_O14604 5013 44 5.34 Y Cytoskeleton NA 0 PE1 -NX_O14607 149548 1347 7.91 Y Nucleus NA 0 PE1 -NX_O14609 18083 159 6.56 Y Membrane NA 3 PE2 -NX_O14610 7747 69 6.27 17 Cell membrane NA 0 PE2 -NX_O14613 22484 210 4.94 11 Cytosol;Cytoskeleton;Endomembrane system NA 0 PE1 -NX_O14617 130158 1153 8.69 19 Cytosol;Cytoplasm;Golgi apparatus membrane Hermansky-Pudlak syndrome 10 0 PE1 -NX_O14618 29041 274 5.32 11 Cytoplasm NA 0 PE1 -NX_O14625 10365 94 9.94 4 Secreted NA 0 PE1 -NX_O14626 36754 319 9.1 3 Cell membrane NA 7 PE1 -NX_O14627 30480 284 9.03 X Nucleus NA 0 PE1 -NX_O14628 72332 629 8.45 11 Cytosol;Nucleus NA 0 PE1 -NX_O14633 11219 110 8.54 1 NA NA 0 PE1 -NX_O14638 100124 875 6.12 6 Apical cell membrane;Cell membrane;Secreted NA 1 PE1 -NX_O14639 87688 778 8.91 10 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_O14640 75187 695 7.69 1 Cytoplasmic vesicle;Cytosol;Cell membrane Robinow syndrome, autosomal dominant 2 0 PE1 -NX_O14641 78948 736 5.67 17 Nucleoplasm;Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane NA 0 PE1 -NX_O14645 29662 258 8.73 1 Cilium NA 0 PE1 -NX_O14646 196688 1710 6.68 5 Cytoplasm;Nucleolus;Nucleus Pilarowski-Bjornsson syndrome 0 PE1 -NX_O14647 211344 1828 8.22 15 Nucleus Epileptic encephalopathy, childhood-onset 0 PE1 -NX_O14649 43518 394 9.26 2 Cell membrane Pulmonary hypertension, primary, 4 4 PE1 -NX_O14653 24775 212 7.86 17 Nucleoplasm;cis-Golgi network membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane;Golgi apparatus Epilepsy, progressive myoclonic 6 1 PE1 -NX_O14654 133768 1257 8.72 X Cell membrane NA 0 PE1 -NX_O14656 37809 332 6.51 9 Nucleus membrane;Growth cone;Cytoplasmic vesicle;Secretory vesicle;Cytoskeleton;Endoplasmic reticulum lumen;Synaptic vesicle;Cytoplasmic vesicle membrane Dystonia 1, torsion, autosomal dominant 0 PE1 -NX_O14657 37979 336 8.76 9 Cytosol;Nucleus speckle;Endoplasmic reticulum lumen;Nucleus membrane NA 0 PE1 -NX_O14662 37031 325 5.75 20 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus membrane Pseudohypoparathyroidism 1B 1 PE1 -NX_O14668 24947 218 5.13 X Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Membrane NA 1 PE1 -NX_O14669 22393 202 5.22 19 Cytosol;Nucleolus;Nucleus;Membrane NA 1 PE1 -NX_O14672 84142 748 8.04 15 Cytoplasmic vesicle;Golgi apparatus membrane;Cell membrane Reticulate acropigmentation of Kitamura;Alzheimer disease 18 1 PE1 -NX_O14678 68597 606 6.12 14 Peroxisome membrane Methylmalonic aciduria and homocystinuria type cblJ 5 PE1 -NX_O14681 38965 340 9.75 11 Endoplasmic reticulum membrane;Nucleus membrane;Golgi apparatus;Cytosol;Cytoplasm;Endoplasmic reticulum NA 5 PE1 -NX_O14682 66130 589 6.4 5 Cytoplasm;Cytoskeleton;Nucleus matrix;Cell membrane NA 0 PE1 -NX_O14683 21054 189 9.57 11 Endoplasmic reticulum;Golgi apparatus;Membrane NA 4 PE1 -NX_O14684 17102 152 9.59 9 Endoplasmic reticulum;Membrane NA 4 PE1 -NX_O14686 593389 5537 5.4 12 Cytosol;Nucleus;Cell membrane Kabuki syndrome 1 0 PE1 -NX_O14709 118847 1029 8.91 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_O14713 21782 200 5.95 2 Ruffle;Cytosol;Cytoplasm;Cell membrane;Microtubule organizing center;Nucleoplasm;Nucleus;Lamellipodium;Cytoskeleton NA 0 PE1 -NX_O14715 198993 1765 6.09 2 NA NA 0 PE1 -NX_O14717 44597 391 5.78 10 Nucleolus;Nucleus;Centrosome NA 0 PE1 -NX_O14718 37423 337 8.78 4 Membrane NA 7 PE1 -NX_O14727 141840 1248 5.96 12 Cytosol;Cytoplasm;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_O14730 59093 519 5.52 18 Cytosol;Cytoplasm;Cell membrane;Golgi apparatus;Microtubule organizing center NA 0 PE1 -NX_O14732 31321 288 6.15 18 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_O14733 47485 419 9.26 19 Cytosol;Cytoplasm;Nucleus;Cell membrane;Golgi apparatus NA 0 PE1 -NX_O14734 35914 319 7.22 20 Cytoplasmic vesicle;Cytoplasm;Mitochondrion;Peroxisome matrix NA 0 PE1 -NX_O14735 23539 213 8.23 16 Endoplasmic reticulum membrane;Nucleus membrane;Nucleoplasm;Cell membrane;Golgi apparatus membrane;Membrane NA 5 PE1 -NX_O14737 14285 125 5.77 19 Cytosol;Nucleus NA 0 PE1 -NX_O14744 72684 637 5.88 14 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_O14745 38868 358 5.55 17 Apical cell membrane;Ruffle;Microvillus;Cytoplasm;Cell membrane;Microtubule organizing center;Cytoplasmic vesicle;Filopodium;Endomembrane system Nephrolithiasis/osteoporosis, hypophosphatemic, 2 0 PE1 -NX_O14746 126997 1132 10.54 5 PML body;Nucleolus;Nucleus speckle;Nucleoplasm;Cytoplasm;Telomere;Cytosol;Nucleus Pulmonary fibrosis, idiopathic;Dyskeratosis congenita, autosomal recessive, 4;Dyskeratosis congenita, autosomal dominant, 2;Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1;Melanoma, cutaneous malignant 9;Aplastic anemia 0 PE1 -NX_O14753 30259 267 9.02 11 Nucleus NA 0 PE1 -NX_O14756 35966 317 8.94 12 Cytoplasmic vesicle;Microsome membrane;Early endosome membrane;Nucleus NA 0 PE1 -NX_O14757 54434 476 8.5 11 Cytoplasmic vesicle;Cytoplasm;Nucleus;Centrosome;Nucleoplasm NA 0 PE1 -NX_O14763 47878 440 5.39 8 Membrane Squamous cell carcinoma of the head and neck 1 PE1 -NX_O14764 50708 452 8.7 1 Cytoplasmic vesicle;Postsynaptic cell membrane;Cell membrane;Golgi apparatus Epilepsy, idiopathic generalized 10;Generalized epilepsy with febrile seizures plus 5;Juvenile myoclonic epilepsy 7 4 PE1 -NX_O14770 51790 477 5.92 15 Cytosol;Nucleoplasm;Perinuclear region;Nucleus Cleft palate, cardiac defects, and mental retardation 0 PE1 -NX_O14771 51263 459 6.48 16 Cytosol;Cytoplasmic vesicle;Nucleus;Nucleus membrane NA 0 PE1 -NX_O14772 68010 607 6.45 1 Cytoplasm NA 0 PE1 -NX_O14773 61248 563 6.01 11 Cytoplasm;Melanosome;Lysosome Ceroid lipofuscinosis, neuronal, 2;Spinocerebellar ataxia, autosomal recessive, 7 0 PE1 -NX_O14775 43566 395 6.02 15 Cytoplasm;Nucleus speckle;Nucleus;Centrosome;Membrane Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia;Intellectual developmental disorder with cardiac arrhythmia 0 PE1 -NX_O14776 123901 1098 8.71 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_O14777 73913 642 5.48 18 Kinetochore;Nucleoplasm;Nucleus;Centrosome NA 0 PE1 -NX_O14782 89426 793 8.28 2 Cytoskeleton;Nucleus;Nucleus membrane NA 0 PE1 -NX_O14786 103134 923 5.58 10 Mitochondrion;Cell membrane;Endoplasmic reticulum;Secreted NA 1 PE1 -NX_O14787 101388 897 4.87 19 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_O14788 35478 317 7.25 13 Cytoplasm;Cell membrane;Secreted Osteopetrosis, autosomal recessive 2 1 PE1 -NX_O14791 43974 398 5.6 22 Secreted Focal segmental glomerulosclerosis 4 0 PE1 -NX_O14792 35773 307 8.91 4 Cytoplasmic vesicle;Golgi apparatus lumen NA 0 PE1 -NX_O14793 42750 375 6.35 2 Secreted Muscle hypertrophy 0 PE1 -NX_O14795 180679 1591 5.67 9 Synapse;Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Membrane NA 0 PE1 -NX_O14796 15297 132 8.97 1 NA NA 0 PE1 -NX_O14798 27407 259 4.79 8 Cell membrane NA 0 PE1 -NX_O14802 155641 1390 8.76 10 Nucleoplasm;Nucleus Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 0 PE1 -NX_O14804 38242 337 8.49 6 Cell membrane NA 7 PE2 -NX_O14807 23846 208 8.82 3 Cell membrane NA 0 PE1 -NX_O14810 15030 134 4.93 4 Cytosol Epileptic encephalopathy, early infantile, 63 0 PE1 -NX_O14813 29653 284 8.98 11 Cytoplasmic vesicle;Nucleus;Nucleus membrane Fibrosis of extraocular muscles, congenital, 2 0 PE1 -NX_O14815 79097 690 5.37 1 NA NA 0 PE1 -NX_O14817 26118 238 6.07 11 Membrane NA 4 PE1 -NX_O14818 27887 248 8.6 20 Cytoplasm;Nucleus NA 0 PE1 -NX_O14827 140764 1237 7.37 5 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum;Cell membrane NA 0 PE1 -NX_O14828 38287 347 7.55 1 Cytoplasmic vesicle;Membrane NA 4 PE1 -NX_O14829 75792 653 6.37 X Cytoskeleton;Cell membrane NA 0 PE1 -NX_O14830 86518 753 6.7 4 Photoreceptor inner segment;Cytoplasm;Photoreceptor outer segment NA 0 PE1 -NX_O14832 38538 338 8.71 10 Peroxisome Refsum disease 0 PE1 -NX_O14836 31816 293 8.35 17 Membrane Immunoglobulin A deficiency 2;Immunodeficiency, common variable, 2 1 PE1 -NX_O14841 137457 1288 6.12 8 Nucleolus 5-oxoprolinase deficiency 0 PE1 -NX_O14842 31457 300 9.63 19 Cell membrane NA 7 PE1 -NX_O14843 38649 346 8 19 Cell membrane NA 7 PE1 -NX_O14862 38954 343 9.79 1 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus;Cytosol NA 0 PE1 -NX_O14863 47483 429 6.11 15 Endosome membrane;Lysosome membrane;Late endosome membrane NA 6 PE1 -NX_O14867 81958 736 4.95 21 Cytosol;Nucleus NA 0 PE1 -NX_O14874 46360 412 8.97 16 Mitochondrion matrix;Mitochondrion Branched-chain ketoacid dehydrogenase kinase deficiency 0 PE1 -NX_O14879 55985 490 5.12 10 Mitochondrion;Cytoplasm;Cytosol NA 0 PE1 -NX_O14880 16516 152 9.46 1 Endoplasmic reticulum membrane;Microsome membrane NA 3 PE1 -NX_O14893 31585 280 5.43 14 Cytoplasm;Nucleolus;Nucleus;Gem NA 0 PE1 -NX_O14894 20823 197 8.56 17 Nucleoplasm;Cell junction;Cell membrane;Membrane NA 4 PE2 -NX_O14896 53130 467 5.18 1 Cytosol;Cytoplasm;Nucleus Non-syndromic orofacial cleft 6;Popliteal pterygium syndrome;Van der Woude syndrome 1 0 PE1 -NX_O14901 55139 512 8.45 2 Nucleoplasm;Cytosol;Focal adhesion;Nucleus Maturity-onset diabetes of the young 7 0 PE1 -NX_O14904 40320 365 9.08 1 Extracellular matrix;Secreted NA 0 PE1 -NX_O14905 39001 357 9.2 17 Secreted;Extracellular matrix NA 0 PE1 -NX_O14907 13735 124 8.05 17 Nucleolus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Cytoskeleton NA 0 PE1 -NX_O14908 36049 333 5.9 19 Cytoplasm;Nucleus;Cell junction;Cell membrane;Membrane NA 0 PE1 -NX_O14910 25997 233 8.83 12 Synaptosome;Basolateral cell membrane;Cell membrane;Postsynaptic density;Cell junction;Tight junction NA 0 PE1 -NX_O14917 126229 1159 5.03 13 Cytoplasmic vesicle;Cytosol;Cell membrane NA 1 PE1 -NX_O14920 86564 756 5.58 8 Cytosol;Cytoplasm;Nucleus;Membrane raft Immunodeficiency 15 0 PE1 -NX_O14921 19135 159 9.07 1 NA NA 0 PE2 -NX_O14924 156357 1447 7.2 4 Synapse;Nucleolus;Cytoplasm;Dendrite;Nucleus matrix;Nucleus NA 0 PE1 -NX_O14925 21943 209 8.81 10 Mitochondrion;Mitochondrion inner membrane NA 3 PE1 -NX_O14926 55057 492 7.95 17 Cytoskeleton;Stereocilium Retinitis pigmentosa 30 0 PE1 -NX_O14929 49513 419 5.52 2 Nucleus matrix;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_O14931 21593 201 9.17 6 Cell membrane NA 1 PE1 -NX_O14933 17769 153 7.72 11 Cytosol NA 0 PE1 -NX_O14936 105123 926 5.99 X Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm Mental retardation and microcephaly with pontine and cerebellar hypoplasia;FG syndrome 4 0 PE1 -NX_O14939 105987 933 7.41 17 Membrane NA 0 PE1 -NX_O14944 19044 169 7.49 4 Cytoplasmic vesicle;Extracellular space;Cell membrane NA 1 PE1 -NX_O14948 38788 347 5.3 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_O14949 9906 82 10.07 5 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 4 0 PE1 -NX_O14950 19779 172 4.71 18 Cytoplasm NA 0 PE1 -NX_O14957 6570 56 9.87 19 Mitochondrion inner membrane NA 1 PE1 -NX_O14958 46436 399 4.22 1 Sarcoplasmic reticulum lumen Ventricular tachycardia, catecholaminergic polymorphic, 2 0 PE1 -NX_O14960 16390 151 9.49 5 Cytoplasm;Secreted NA 0 PE1 -NX_O14964 86192 777 5.84 17 Endosome;Lysosome;Cytosol;Cytoplasm;Early endosome membrane;Multivesicular body membrane NA 0 PE1 -NX_O14965 45809 403 9.45 20 Cytosol;Spindle pole;Centriole;Nucleus;Centrosome;Cilium basal body NA 0 PE1 -NX_O14966 23155 203 6.73 1 Nucleolus;Nucleus membrane;Golgi apparatus;Cytoplasm;Cell membrane;Vacuole;Perinuclear region;trans-Golgi network;Cytoskeleton NA 0 PE1 -NX_O14967 70039 610 4.58 4 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_O14972 33010 297 7.6 21 Mitochondrion NA 0 PE1 -NX_O14974 115281 1030 5.31 12 Cytosol;Cytoplasm;Cytoskeleton;Stress fiber NA 0 PE1 -NX_O14975 70312 620 8.75 15 Endoplasmic reticulum membrane;Peroxisome membrane NA 3 PE1 -NX_O14976 143191 1311 5.49 4 Cytoplasmic vesicle;Perinuclear region;Focal adhesion;Golgi apparatus;trans-Golgi network NA 0 PE1 -NX_O14977 49535 448 4.66 8 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_O14978 77299 683 6.54 16 Nucleoplasm;Cytosol;Spindle;Nucleus NA 0 PE1 -NX_O14979 46438 420 9.59 4 Nucleoplasm;Cytoplasm;Nucleus Limb-girdle muscular dystrophy 1G 0 PE1 -NX_O14980 123386 1071 5.71 2 Cajal body;Nucleolus;Nucleus membrane;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_O14981 206887 1849 6.08 10 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_O14983 110252 1001 5.07 16 Endoplasmic reticulum membrane;Endoplasmic reticulum;Sarcoplasmic reticulum membrane Brody myopathy 10 PE1 -NX_O14986 61036 540 6.39 9 Cytoplasmic vesicle;Nucleus;Endomembrane system NA 0 PE1 -NX_O14990 22660 202 5.04 X NA NA 0 PE1 -NX_O14994 63303 580 9.42 22 Synaptic vesicle membrane NA 0 PE1 -NX_O15013 151612 1369 5.46 8 Nucleoplasm Slowed nerve conduction velocity 0 PE1 -NX_O15014 151191 1411 8.24 15 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_O15015 200762 1829 6.97 16 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_O15016 134663 1216 6.53 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_O15018 301641 2839 7.14 5 Secreted;Cytosol;Cytoplasm;Cell membrane;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_O15020 271325 2390 5.79 11 Cytosol;Cytoskeleton;Cell cortex;Cell junction Spinocerebellar ataxia 5;Spinocerebellar ataxia, autosomal recessive, 14 0 PE1 -NX_O15021 284097 2623 8.85 5 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_O15027 251894 2357 5.51 9 Endoplasmic reticulum membrane;Microsome membrane;Golgi apparatus;Cytosol;Endoplasmic reticulum;Perinuclear region;Golgi apparatus membrane NA 0 PE1 -NX_O15031 205127 1838 5.85 22 Cell membrane NA 1 PE1 -NX_O15033 94223 823 6.85 14 Cytosol NA 0 PE1 -NX_O15034 116026 1052 5.16 12 Synapse;Cell membrane NA 0 PE1 -NX_O15037 74534 678 6.57 14 Cytosol;Nucleoplasm NA 0 PE1 -NX_O15040 153848 1411 5.34 14 Nucleus Spastic paraplegia 49, autosomal recessive 0 PE1 -NX_O15041 89228 775 7.2 7 Cytoplasmic vesicle;Nucleoplasm;Secreted NA 0 PE1 -NX_O15042 118292 1029 8.59 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_O15047 186034 1707 5.07 16 Nucleus speckle;Chromosome NA 0 PE1 -NX_O15049 60470 544 8.33 5 Nucleoplasm;Cytoplasmic vesicle;Axon;Centrosome;Dendrite NA 0 PE1 -NX_O15050 336221 2925 6.34 3 Nucleoplasm NA 0 PE1 -NX_O15054 176632 1643 8.83 17 Nucleus speckle;Nucleus NA 0 PE1 -NX_O15055 136579 1255 6.04 2 Cytoplasm;Perinuclear region;Nucleolus;Nucleus Advanced sleep phase syndrome, familial, 1 0 PE1 -NX_O15056 165538 1496 6.96 6 Cytosol;Cytoplasm;Cell membrane;Axon;Cytoskeleton;Membrane raft NA 0 PE1 -NX_O15060 79001 712 6.06 12 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_O15061 172768 1565 5.09 15 Adherens junction;Cytoskeleton NA 0 PE1 -NX_O15062 74278 677 5.79 9 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_O15063 116020 1070 6.72 19 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_O15066 85125 747 7.3 20 Nucleoplasm;Cytoskeleton;Nucleolus;Cilium;Golgi apparatus NA 0 PE1 -NX_O15067 144734 1338 5.5 17 Nucleoplasm;Cytoplasm;Cell membrane NA 0 PE1 -NX_O15068 128109 1137 6.02 13 Cytoplasm;Cell membrane;Endomembrane system NA 0 PE1 -NX_O15069 161101 1562 4.12 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_O15072 135603 1205 6.76 4 Cytoskeleton;Extracellular matrix NA 0 PE1 -NX_O15075 82224 740 8.84 13 Cytosol;Nucleoplasm NA 0 PE1 -NX_O15078 290386 2479 5.75 12 Centriole;Cilium;Cytoplasmic vesicle;Centriolar satellite;Nucleus;Centrosome;Cilium basal body Leber congenital amaurosis 10;Meckel syndrome 4;Senior-Loken syndrome 6;Bardet-Biedl syndrome 14;Joubert syndrome 5 0 PE1 -NX_O15079 53537 494 5.41 20 Mitochondrion;Synaptosome;Cytoskeleton;Membrane NA 1 PE1 -NX_O15083 110558 957 6.51 3 Synaptosome;Cytoskeleton;Synapse;Cytoplasm NA 0 PE1 -NX_O15084 112966 1053 5.8 3 Nucleoplasm NA 0 PE1 -NX_O15085 167704 1522 5.33 1 Cytoplasm;Cell membrane;Golgi apparatus;Membrane NA 0 PE1 -NX_O15090 141417 1300 6.86 19 Nucleus;Cell junction NA 0 PE1 -NX_O15091 67315 583 8.97 14 Mitochondrion;Nucleus NA 0 PE1 -NX_O15105 46426 426 8.63 18 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Colorectal cancer 3 0 PE1 -NX_O15111 84640 745 6.27 10 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoplasm Cocoon syndrome 0 PE1 -NX_O15116 15179 133 5.11 8 Cytosol;Cytoplasmic vesicle;P-body;Cytoplasm NA 0 PE1 -NX_O15117 85387 783 6.11 5 Cytoplasm;Nucleus;Cell junction Thrombocytopenia 3 0 PE1 -NX_O15118 142167 1278 5.17 18 Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane;Nucleus Niemann-Pick disease C1 13 PE1 -NX_O15119 79389 743 8.3 12 Cytosol;Nucleoplasm;Nucleus Ulnar-mammary syndrome 0 PE1 -NX_O15120 30914 278 9.21 9 Endoplasmic reticulum membrane;Centrosome Congenital generalized lipodystrophy 1 3 PE1 -NX_O15121 37866 323 6.97 1 Endoplasmic reticulum membrane;Mitochondrion;Membrane NA 6 PE1 -NX_O15123 56919 496 5.41 8 Secreted NA 0 PE1 -NX_O15126 37920 338 7.03 5 Cytoplasmic vesicle;Recycling endosome membrane;trans-Golgi network membrane;Cell junction;Nucleoplasm NA 4 PE1 -NX_O15127 36649 329 5.72 15 Cytoplasmic vesicle;Recycling endosome membrane;trans-Golgi network membrane;Golgi apparatus;Cell membrane NA 4 PE1 -NX_O15130 12440 113 5.04 12 Secreted NA 0 PE2 -NX_O15131 60349 536 5.07 6 Cytosol;Cytoplasm NA 0 PE1 -NX_O15143 40950 372 8.68 7 Cytoplasmic vesicle;Cytosol;Cytoskeleton;Nucleus Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 0 PE1 -NX_O15144 34333 300 6.84 2 Synaptosome;Golgi apparatus;Cytosol;Cytoplasm;Nucleus;Cytoskeleton;Cell projection NA 0 PE1 -NX_O15145 20547 178 8.78 12 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus;Cell projection NA 0 PE1 -NX_O15146 97056 869 6.96 9 Postsynaptic cell membrane Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Fetal akinesia deformation sequence 1 PE1 -NX_O15151 54864 490 4.85 1 Nucleus NA 0 PE1 -NX_O15155 13289 118 9.14 7 Endoplasmic reticulum membrane;cis-Golgi network membrane;Golgi apparatus membrane NA 1 PE1 -NX_O15156 58027 539 5.53 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_O15160 39250 346 5.31 6 Nucleus Treacher Collins syndrome 3;Leukodystrophy, hypomyelinating, 11 0 PE1 -NX_O15162 35049 318 4.83 3 Golgi apparatus;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Membrane NA 1 PE1 -NX_O15164 116831 1050 6.73 7 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O15165 33900 306 5.86 18 Cytoplasmic vesicle;Nucleoplasm;Early endosome membrane NA 1 PE1 -NX_O15169 95635 862 6.5 16 Nucleolus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Membrane Hepatocellular carcinoma;Caudal duplication anomaly 0 PE1 -NX_O15172 7804 72 6.02 7 NA NA 0 PE5 -NX_O15173 23818 223 4.76 4 Cytosol;Nucleus;Cell membrane;Membrane NA 1 PE1 -NX_O15178 47443 435 6.62 6 Nucleus Neural tube defects;Sacral agenesis with vertebral anomalies;Chordoma 0 PE1 -NX_O15182 19550 167 4.62 5 Centriole;Nucleolus;Centrosome NA 0 PE1 -NX_O15194 31129 276 5.32 3 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_O15195 95907 856 6.55 3 NA NA 0 PE1 -NX_O15197 110700 1021 6.19 7 Nucleus speckle;Secreted;Membrane NA 1 PE1 -NX_O15198 52493 467 7.87 13 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Pulmonary hypertension, primary, 2 0 PE1 -NX_O15204 52775 470 7.01 8 Secreted NA 0 PE1 -NX_O15205 18473 165 9.08 6 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_O15209 65602 634 5.93 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_O15211 83549 777 5.82 6 Nucleoplasm NA 0 PE1 -NX_O15212 14583 129 8.83 6 Nucleus;Golgi apparatus NA 0 PE1 -NX_O15213 68071 610 9.69 6 Nucleolus NA 0 PE1 -NX_O15217 25704 222 7.89 6 Cytoplasm NA 0 PE1 -NX_O15218 45323 404 7.28 12 Cell membrane NA 7 PE2 -NX_O15225 5365 51 7 X NA NA 0 PE5 -NX_O15226 77673 690 8.94 X Nucleolus;Nucleus NA 0 PE1 -NX_O15228 77188 680 6.16 1 Peroxisome membrane Rhizomelic chondrodysplasia punctata 2 0 PE1 -NX_O15229 55810 486 9.18 1 Mitochondrion outer membrane NA 2 PE1 -NX_O15230 399737 3695 6.66 20 Cytoplasmic vesicle;Nucleoplasm;Basement membrane NA 0 PE1 -NX_O15231 73525 689 6.68 X Focal adhesion;Cytoskeleton NA 0 PE1 -NX_O15232 52817 486 6.25 2 Golgi apparatus;Endoplasmic reticulum;Secreted Multiple epiphyseal dysplasia 5;Spondyloepimetaphyseal dysplasia MATN3-related;Osteoarthritis 2 0 PE1 -NX_O15234 76278 703 6.05 17 Nucleus speckle;Nucleus membrane;Stress granule;Cytoplasm;Cytoplasmic ribonucleoprotein granule;Dendrite;Perinuclear region;Nucleus NA 0 PE1 -NX_O15235 15173 138 10.31 19 Mitochondrion NA 0 PE1 -NX_O15239 8072 70 8.93 X Cytosol;Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency 1 PE1 -NX_O15240 67258 615 4.76 7 Cytoplasmic vesicle;Secretory vesicle;Golgi apparatus;Secreted NA 0 PE1 -NX_O15243 14254 131 6.01 1 Endosome membrane;Golgi apparatus membrane;Centrosome NA 4 PE1 -NX_O15244 62581 555 8.68 6 Membrane NA 12 PE1 -NX_O15245 61154 554 6.4 6 Basolateral cell membrane NA 12 PE1 -NX_O15247 28356 247 5.44 X Cytoplasm;Nucleus;Cell membrane;Membrane Mental retardation, X-linked, syndromic, 32 1 PE1 -NX_O15254 77629 700 6.84 4 Peroxisome NA 0 PE1 -NX_O15255 22278 209 8.56 X Cell membrane NA 0 PE2 -NX_O15258 22958 196 9.56 1 Golgi apparatus membrane;Golgi apparatus NA 3 PE1 -NX_O15259 83299 732 5.11 2 Cytoplasmic vesicle;Tight junction;Cilium;Cilium axoneme;Adherens junction Nephronophthisis 1;Senior-Loken syndrome 1;Joubert syndrome 4 0 PE1 -NX_O15260 30394 269 7.64 9 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 5 PE1 -NX_O15263 7038 64 9.46 8 Secreted NA 0 PE1 -NX_O15264 42090 365 8.48 6 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_O15265 95451 892 9.89 3 Nucleolus;Cytosol;Cytoplasm;Nucleoplasm;Nucleus matrix;Nucleus;Cytoskeleton Spinocerebellar ataxia 7 0 PE1 -NX_O15266 32236 292 7.23 X Cytoplasmic vesicle;Nucleoplasm;Nucleus Leri-Weill dyschondrosteosis;Langer mesomelic dysplasia;Short stature, idiopathic, X-linked 0 PE1 -NX_O15269 52744 473 5.72 9 Endoplasmic reticulum membrane;Endoplasmic reticulum Neuropathy, hereditary sensory and autonomic, 1A 1 PE1 -NX_O15270 62924 562 7.89 14 Mitochondrion;Endoplasmic reticulum membrane Neuropathy, hereditary sensory and autonomic, 1C 1 PE1 -NX_O15273 19052 167 5.2 17 Sarcomere Cardiomyopathy, familial hypertrophic 25;Limb-girdle muscular dystrophy 2G 0 PE1 -NX_O15287 68554 622 5.32 9 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cell membrane Fanconi anemia complementation group G 0 PE1 -NX_O15294 116925 1046 6.22 X Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;Membrane;Mitochondrion;Cell projection;Mitochondrion membrane Mental retardation, X-linked 106 0 PE1 -NX_O15296 75857 676 5.73 17 Cytosol;Cytoskeleton;Nucleus;Cell membrane;Membrane NA 0 PE1 -NX_O15297 66675 605 9.14 17 Cytosol;Nucleus;Endoplasmic reticulum Ovarian cancer;Breast cancer;Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 PE1 -NX_O15303 95468 877 8.34 5 Endoplasmic reticulum membrane;Dendrite;Golgi apparatus membrane;Cell membrane Night blindness, congenital stationary, 1B 7 PE1 -NX_O15304 18695 175 7.86 14 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O15305 28082 246 6.35 16 Cytosol;Cytoplasm;Nucleus Congenital disorder of glycosylation 1A 0 PE1 -NX_O15315 42196 384 5.49 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_O15318 25914 223 4.53 5 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_O15320 90996 804 5.15 14 Endoplasmic reticulum membrane NA 1 PE1 -NX_O15321 68861 606 6.7 14 Autophagosome membrane;Lysosome membrane;Golgi apparatus NA 9 PE1 -NX_O15327 104738 924 5.87 4 Cytoplasm;Centrosome NA 0 PE1 -NX_O15335 40476 359 9.49 17 Extracellular matrix NA 0 PE1 -NX_O15342 9374 81 8.96 5 Membrane NA 2 PE2 -NX_O15344 75251 667 6.35 X Cytoplasm;Cytoskeleton;Spindle Opitz GBBB syndrome 1 0 PE1 -NX_O15347 22980 200 8.48 X Cytoplasm;Nucleolus;Nucleus;Chromosome Microphthalmia, syndromic, 13 0 PE1 -NX_O15350 69623 636 6.47 1 Nucleoplasm;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_O15353 68925 648 5.93 17 Nucleus T-cell immunodeficiency, congenital alopecia, and nail dystrophy 0 PE1 -NX_O15354 67114 613 8.68 7 Endoplasmic reticulum membrane;Cytosol;Nucleus membrane;Cell membrane NA 7 PE1 -NX_O15355 59272 546 4.28 2 Nucleoplasm;Cytoplasm;Membrane NA 0 PE1 -NX_O15357 138599 1258 6.1 11 Golgi apparatus;Cytosol;Filopodium;Membrane;Lamellipodium;Cytoskeleton Opsismodysplasia;Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_O15360 162775 1455 6.13 16 Cytoplasm;Nucleus Fanconi anemia, complementation group A 0 PE1 -NX_O15370 34122 315 5.08 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_O15371 63973 548 5.79 22 Cytosol;Cytoplasm NA 0 PE1 -NX_O15372 39930 352 6.09 8 Cytosol;Cytoplasm NA 0 PE1 -NX_O15374 54022 487 8.25 1 Cytosol;Cytoskeleton;Cell membrane NA 12 PE1 -NX_O15375 54994 505 8.59 17 Cell membrane NA 12 PE1 -NX_O15379 48848 428 4.98 5 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_O15381 95051 856 6.11 1 Nucleoplasm;Nucleolus NA 0 PE1 -NX_O15382 44288 392 8.88 19 Mitochondrion;Cytoplasm NA 0 PE1 -NX_O15389 60715 551 7.01 19 Membrane NA 1 PE1 -NX_O15391 41347 372 5.76 X Nucleus NA 0 PE1 -NX_O15392 16389 142 5.66 17 Kinetochore;Cytoplasm;Midbody;Nucleus;Spindle;Centromere;Cytoskeleton;Chromosome NA 0 PE1 -NX_O15393 53859 492 8.12 21 Nucleoplasm;Cell junction;Cell membrane;Secreted NA 1 PE1 -NX_O15394 93046 837 5.44 21 Nucleus;Cell membrane NA 1 PE1 -NX_O15397 119938 1037 5.04 12 Cytoplasm;Nucleus NA 0 PE1 -NX_O15399 143752 1336 8.68 19 Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, early infantile, 46 3 PE1 -NX_O15400 29816 261 5.41 6 Early endosome membrane;Lysosome NA 1 PE1 -NX_O15403 57393 523 7.95 17 Cytoplasmic vesicle;Cell membrane NA 12 PE1 -NX_O15405 63342 576 7.36 16 Nucleoplasm;Nucleus NA 0 PE1 -NX_O15409 79919 715 6.06 7 Nucleoplasm;Nucleus Speech-language disorder 1 0 PE1 -NX_O15417 314519 2968 8.88 7 Nucleoplasm;Cytosol;Mitochondrion;Nucleus membrane NA 0 PE1 -NX_O15427 49469 465 8.23 17 Nucleus membrane;Cell membrane NA 12 PE1 -NX_O15428 11021 100 9.59 1 NA NA 0 PE5 -NX_O15431 21091 190 6.89 9 Cell membrane NA 3 PE1 -NX_O15432 15681 143 6.25 9 Nucleus speckle;Cytoskeleton;Cell membrane;Membrane NA 3 PE1 -NX_O15438 169343 1527 6.79 17 Cell membrane;Membrane NA 17 PE1 -NX_O15439 149527 1325 8.41 13 Membrane NA 14 PE1 -NX_O15440 160660 1437 8.87 3 Nucleus;Cell junction;Cell membrane;Membrane NA 13 PE1 -NX_O15442 37207 326 6.17 22 NA NA 0 PE2 -NX_O15444 16609 150 10.2 19 Secreted NA 0 PE1 -NX_O15446 54986 510 8.66 19 Mitochondrion;Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_O15455 103829 904 6.73 4 Endosome membrane;Endoplasmic reticulum membrane;Early endosome Encephalopathy, acute, infection-induced, Herpes-specific, 2 1 PE1 -NX_O15457 104756 936 7.16 1 NA NA 0 PE1 -NX_O15460 60902 535 5.49 5 Cytoplasmic vesicle;Endoplasmic reticulum lumen;Endoplasmic reticulum Myopia 25, autosomal dominant 0 PE1 -NX_O15466 43895 376 9.19 18 Golgi apparatus membrane;Midbody;Cell membrane NA 1 PE1 -NX_O15467 13600 120 9.61 17 Secreted NA 0 PE1 -NX_O15479 35277 319 8.87 X Cytosol;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_O15480 39211 346 10.07 X NA NA 0 PE1 -NX_O15481 38923 346 9.28 X Cytoplasm NA 0 PE1 -NX_O15482 46131 410 5.86 X Membrane NA 1 PE2 -NX_O15484 73169 640 7.57 11 NA Vitreoretinopathy, neovascular inflammatory 0 PE1 -NX_O15488 55184 501 4.97 X Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_O15492 22749 202 6.18 1 Cytosol;Membrane NA 0 PE1 -NX_O15496 18153 165 6.07 16 Secreted NA 0 PE1 -NX_O15498 22418 198 6.44 7 Cytosol;Mitochondrion;Cytoplasmic vesicle membrane;Golgi apparatus membrane NA 0 PE1 -NX_O15499 21545 205 10.58 22 Nucleus NA 0 PE2 -NX_O15503 29987 277 9.08 7 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 6 PE1 -NX_O15504 44872 423 9.25 7 Nuclear pore complex;Nucleus;Nucleus membrane NA 0 PE1 -NX_O15511 16320 151 5.47 1 Cytosol;Cell membrane;Cytoplasmic vesicle;Nucleus;Cytoskeleton;Cell projection;Cell junction NA 0 PE1 -NX_O15514 16311 142 4.75 2 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_O15516 95304 846 6.51 4 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_O15519 55344 480 8.19 2 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_O15520 23436 208 9.61 5 Secreted Aplasia of lacrimal and salivary glands;Lacrimo-auriculo-dento-digital syndrome 0 PE1 -NX_O15522 25866 239 9.47 14 Nucleoplasm;Nucleus;Cell membrane NA 0 PE2 -NX_O15523 73154 660 7.24 Y Cytoplasm;Nucleus NA 0 PE1 -NX_O15524 23551 211 10.98 16 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_O15525 17850 162 10.04 17 Nucleus NA 0 PE1 -NX_O15527 38782 345 8.89 3 Nucleoplasm;Nucleus;Mitochondrion;Nucleus matrix;Nucleus speckle Renal cell carcinoma 0 PE1 -NX_O15528 56504 508 9.34 12 Mitochondrion membrane Rickets vitamin D-dependent 1A 0 PE1 -NX_O15529 38695 346 7.55 19 Cell membrane NA 7 PE1 -NX_O15530 63152 556 6.95 16 Cytoplasmic vesicle;Cytoplasm;Focal adhesion;Nucleus;Cell membrane NA 0 PE1 -NX_O15533 47626 448 6.68 6 Endoplasmic reticulum membrane Bare lymphocyte syndrome 1 1 PE1 -NX_O15534 136212 1290 5.73 17 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_O15535 45954 394 6.94 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_O15537 25592 224 5.51 X Cell membrane;Secreted Retinoschisis juvenile X-linked 1 0 PE1 -NX_O15539 20946 181 6.85 1 Cytosol;Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_O15540 14889 132 5.4 6 Cytoplasm NA 0 PE1 -NX_O15541 38787 343 5.51 X Nucleoplasm;Nucleus speckle Trichothiodystrophy 5, non-photosensitive 0 PE1 -NX_O15544 16056 149 6.27 3 NA NA 0 PE2 -NX_O15547 48829 441 7.52 22 Cytosol;Nucleolus;Membrane NA 2 PE1 -NX_O15550 154177 1401 7.17 X Nucleus Kabuki syndrome 2 0 PE1 -NX_O15551 23319 220 8.37 7 Tight junction;Cell membrane;Cell junction NA 4 PE1 -NX_O15552 37144 330 9.5 19 Cell membrane NA 7 PE1 -NX_O15553 86444 781 8.3 16 Ruffle;Cytoplasm;Nucleus;Autophagosome;Lamellipodium;Cytoskeleton Familial Mediterranean fever, autosomal dominant;Familial Mediterranean fever, autosomal recessive 0 PE1 -NX_O15554 47696 427 9.87 19 Cell membrane Dehydrated hereditary stomatocytosis 2 6 PE1 -NX_O42043 63671 560 7.83 1 Virion;Cell membrane NA 1 PE1 -NX_O43143 90933 795 7.12 4 Nucleus speckle;Nucleolus;Nucleus NA 0 PE1 -NX_O43147 113285 1006 6.2 17 Nucleoplasm;Cytoplasm;Melanosome;Cytosol NA 0 PE1 -NX_O43148 54844 476 6.29 18 Nucleoplasm;Nucleus NA 0 PE1 -NX_O43149 331075 2961 5.62 17 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_O43150 111651 1006 6.24 2 Cytosol;Cytoplasm;Cell membrane;Golgi stack membrane NA 0 PE1 -NX_O43151 179350 1660 7.01 2 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_O43155 74049 660 7.88 14 Endoplasmic reticulum membrane;Synaptosome;Extracellular matrix;Secreted;Cell membrane;Focal adhesion;Microsome membrane NA 1 PE1 -NX_O43156 122069 1089 5.63 20 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_O43157 232298 2135 5.29 3 Cell membrane;Secreted NA 1 PE1 -NX_O43159 50715 456 9.51 11 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_O43164 78214 708 4.28 5 Endoplasmic reticulum membrane;Synapse;Cytoplasm;Cell membrane;Golgi apparatus membrane;Postsynaptic density;Cytoskeleton NA 0 PE1 -NX_O43166 200029 1804 8.4 14 Synaptosome;Cytoskeleton;Cell membrane;Postsynaptic density NA 0 PE1 -NX_O43167 78282 697 7.42 6 Cytoskeleton;Nucleus;Centrosome Immunodeficiency-centromeric instability-facial anomalies syndrome 2 0 PE1 -NX_O43169 16332 146 4.88 16 Cytosol;Mitochondrion outer membrane;Endoplasmic reticulum;Microtubule organizing center NA 1 PE1 -NX_O43172 58449 522 7.05 9 Nucleus speckle;Nucleus Retinitis pigmentosa 70 0 PE1 -NX_O43173 43970 380 9.56 18 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_O43174 56199 497 8.96 10 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_O43175 56650 533 6.29 1 Nucleoplasm;Cytosol;Cell membrane Neu-Laxova syndrome 1;Phosphoglycerate dehydrogenase deficiency 0 PE1 -NX_O43181 20108 175 10.3 5 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency;Leigh syndrome 0 PE1 -NX_O43182 105947 974 7 X Cytoplasm NA 0 PE1 -NX_O43184 99542 909 8.79 10 Cell membrane;Secreted NA 1 PE1 -NX_O43186 32261 299 9.23 19 Nucleus Cone-rod dystrophy 2;Retinitis pigmentosa;Leber congenital amaurosis 7 0 PE1 -NX_O43187 69433 625 5.51 3 Cytoplasmic vesicle NA 0 PE1 -NX_O43189 62106 567 9.27 6 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 -NX_O43193 45344 412 9.97 13 Cell membrane NA 7 PE2 -NX_O43194 51329 453 9.43 2 Cell membrane NA 7 PE1 -NX_O43196 92875 834 5.95 6 Cytoplasmic vesicle;Endoplasmic reticulum Premature ovarian failure 13 0 PE1 -NX_O43236 55098 478 5.77 17 Flagellum;Nucleoplasm;Cytoplasm;Nucleus;Mitochondrion;Cytoskeleton NA 0 PE1 -NX_O43237 54099 492 5.97 16 Cytosol;Cytoskeleton;Centrosome NA 0 PE1 -NX_O43240 30170 276 8.95 19 Cytosol;Cell membrane;Secreted NA 0 PE1 -NX_O43242 60978 534 8.47 17 Cytosol;Nucleoplasm NA 0 PE1 -NX_O43246 68268 635 6.59 22 Membrane NA 13 PE1 -NX_O43247 30725 280 7.77 22 NA NA 0 PE1 -NX_O43248 33748 304 8.81 12 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_O43251 41374 390 6.71 22 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O43252 70833 624 6.4 4 Nucleolus;Nucleus NA 0 PE1 -NX_O43255 34615 324 6.71 3 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_O43257 17536 154 9.55 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_O43261 8962 78 5.14 13 Cytosol;Cell membrane NA 0 PE1 -NX_O43264 88829 779 5.89 11 Endoplasmic reticulum membrane;Kinetochore;Cytosol;Cytoplasm;Endoplasmic reticulum;Spindle NA 0 PE1 -NX_O43272 68002 600 7.96 22 Mitochondrion matrix Hyperprolinemia 1;Schizophrenia 4 0 PE1 -NX_O43278 58398 529 5.89 15 Nucleoplasm;Cytosol;Cell membrane;Secreted NA 0 PE1 -NX_O43280 66568 583 5.46 11 Cell membrane Trehalase deficiency 0 PE1 -NX_O43281 58815 561 4.98 14 Nucleoplasm;Cytosol NA 0 PE1 -NX_O43283 108296 966 6.05 3 Nucleoplasm;Cytoplasm;Membrane;Cytosol;Microtubule organizing center NA 0 PE1 -NX_O43286 45119 388 8.21 20 Golgi stack membrane NA 1 PE1 -NX_O43290 90255 800 5.89 11 Nucleus speckle;Nucleus;Golgi apparatus NA 0 PE1 -NX_O43291 28228 252 8.68 19 Cytosol;Cytoskeleton;Cell membrane;Membrane Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies 1 PE1 -NX_O43292 67623 621 8.15 8 Endoplasmic reticulum membrane Glycosylphosphatidylinositol biosynthesis defect 15 7 PE1 -NX_O43293 52536 454 6.44 19 Cytoplasm;Nucleus NA 0 PE1 -NX_O43294 49814 461 6.62 16 Cytosol;Cytoskeleton;Nucleus matrix;Focal adhesion NA 0 PE1 -NX_O43295 124504 1099 6.23 3 Nucleoplasm NA 0 PE1 -NX_O43296 70587 627 7.36 19 Nucleus NA 0 PE1 -NX_O43298 52630 467 5.46 9 Nucleolus;Nucleus NA 0 PE1 -NX_O43299 88605 807 6.57 7 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle Spastic paraplegia 48, autosomal recessive 0 PE1 -NX_O43300 59076 516 8.27 5 Postsynaptic cell membrane;Cell membrane NA 1 PE1 -NX_O43301 74978 675 6.32 10 Cytosol;Golgi apparatus NA 0 PE1 -NX_O43303 113424 1012 8.83 16 Centriole;Centrosome;Cilium basal body NA 0 PE1 -NX_O43304 78942 696 6.08 16 Cytosol;Golgi apparatus NA 0 PE1 -NX_O43306 130615 1168 8.56 12 Cell membrane;Stereocilium;Cilium;Golgi apparatus Lethal congenital contracture syndrome 8 12 PE1 -NX_O43307 60982 516 5.47 X Cytosol;Postsynaptic density;Cytoplasm Epileptic encephalopathy, early infantile, 8 0 PE1 -NX_O43309 70222 604 6.28 6 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 -NX_O43310 67587 598 6.1 18 Cytosol;Perinuclear region NA 0 PE1 -NX_O43312 82251 755 6.47 8 Cytoskeleton NA 0 PE1 -NX_O43313 88348 823 5.02 16 Nucleus NA 0 PE1 -NX_O43314 140407 1243 8.47 5 Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_O43315 31431 295 7.67 15 Membrane NA 6 PE1 -NX_O43316 37833 350 9.42 7 Nucleus Maturity-onset diabetes of the young 9;Diabetes mellitus, insulin-dependent;Diabetes mellitus, non-insulin-dependent;Diabetes mellitus, ketosis-prone 0 PE1 -NX_O43318 67196 606 6.69 6 Cytosol;Cytoplasm;Cell membrane;Nucleus speckle Cardiospondylocarpofacial syndrome;Frontometaphyseal dysplasia 2 0 PE1 -NX_O43320 23759 207 9.22 X Secreted Metacarpal 4-5 fusion 0 PE1 -NX_O43323 43577 396 9.4 12 Extracellular space;Cell membrane 46,XY sex reversal 7;Partial gonadal dysgenesis with minifascicular neuropathy 46,XY 0 PE1 -NX_O43324 19811 174 8.55 6 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_O43325 14282 122 9.95 16 Nucleoplasm;Nucleus;Midbody NA 0 PE1 -NX_O43345 147487 1280 9.2 19 Nucleus NA 0 PE2 -NX_O43347 39125 362 7.7 12 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_O43353 61195 540 6.63 8 Cytosol;Cytoplasm NA 0 PE1 -NX_O43361 90364 778 9.01 19 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_O43364 41002 376 5.54 7 Cytoplasmic vesicle;Nucleus Microtia, hearing impairment, and cleft palate;Microtia with or without hearing impairment 0 PE1 -NX_O43365 46369 443 9.3 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_O43374 90458 803 8.01 7 Cytosol;Cell membrane NA 0 PE2 -NX_O43379 165954 1518 5.57 19 Cytosol;Spindle pole;Centriole;Nucleus;Microtubule organizing center;Centrosome Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 PE1 -NX_O43390 70943 633 8.23 1 Nucleoplasm;Cytoplasm;Nucleus;Microsome NA 0 PE1 -NX_O43395 77529 683 9.5 1 Nucleoplasm;Nucleus speckle;Nucleus Retinitis pigmentosa 18 0 PE1 -NX_O43396 32251 289 4.84 18 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_O43399 22238 206 5.26 20 Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_O43402 23773 210 5.92 16 Mitochondrion;Cytoplasm;Cytosol NA 0 PE1 -NX_O43405 59483 550 8.17 14 Cytoplasmic vesicle;Extracellular matrix Deafness, autosomal dominant, 9 0 PE1 -NX_O43414 37238 337 8.33 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_O43422 87704 761 5.58 11 Nucleoplasm NA 0 PE1 -NX_O43423 26762 234 4.14 4 NA NA 0 PE1 -NX_O43424 113356 1007 5.73 4 Postsynaptic cell membrane;Cell membrane Spinocerebellar ataxia, autosomal recessive, 18 3 PE1 -NX_O43426 173103 1573 7.13 21 Nucleoplasm;Cytosol;Perinuclear region;Centrosome Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset 0 PE1 -NX_O43427 41878 364 6.02 11 Nucleus speckle;Nucleus;Endomembrane system Thauvin-Robinet-Faivre syndrome 0 PE1 -NX_O43432 176652 1585 5.27 1 Cytosol;Cytoplasm NA 0 PE1 -NX_O43435 43133 398 8.37 22 Cytosol;Nucleus Velocardiofacial syndrome;DiGeorge syndrome;Conotruncal heart malformations 0 PE1 -NX_O43439 67133 604 8.32 20 Nucleus speckle;Nucleus NA 0 PE1 -NX_O43447 19208 177 8.28 1 Cytoplasm;Nucleus speckle NA 0 PE1 -NX_O43448 43670 404 8.87 17 Mitochondrion;Cytoplasm NA 0 PE2 -NX_O43451 209852 1857 5.27 7 Apical cell membrane NA 1 PE1 -NX_O43462 57444 519 7.21 X Cytosol;Cytoplasm;Mitochondrion;Nucleoplasm;Membrane Olmsted syndrome, X-linked;Keratosis follicularis spinulosa decalvans X-linked;Osteogenesis imperfecta 19;IFAP syndrome with or without BRESHECK syndrome 10 PE1 -NX_O43463 47907 412 8.38 X Nucleoplasm;Centromere;Nucleus;Nucleus lamina NA 0 PE1 -NX_O43464 48841 458 10.07 2 Mitochondrion;Mitochondrion membrane;Mitochondrion intermembrane space 3-methylglutaconic aciduria 8;Parkinson disease 13 1 PE1 -NX_O43474 54671 513 8.69 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_O43482 24691 229 7.02 15 Nucleoplasm;Centromere;Nucleus;Chromosome NA 0 PE1 -NX_O43488 39589 359 6.7 1 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_O43490 97202 865 6.97 4 Endoplasmic reticulum-Golgi intermediate compartment;Apical cell membrane;Photoreceptor outer segment;Golgi apparatus;Endoplasmic reticulum;Microvillus membrane;Cell membrane Retinitis pigmentosa 41;Retinal macular dystrophy 2;Cone-rod dystrophy 12;Stargardt disease 4 5 PE1 -NX_O43491 112588 1005 5.34 6 Nucleus;Cytoskeleton;Cell cortex;Cell junction;Cell membrane NA 0 PE1 -NX_O43493 51019 479 5.53 2 Nucleoplasm;trans-Golgi network membrane;Golgi apparatus;Cell membrane NA 1 PE1 -NX_O43497 262472 2377 6.14 17 Cytoplasm;Cell membrane Spinocerebellar ataxia 42 24 PE1 -NX_O43502 42190 376 6.28 17 Cytosol;Cytoplasm;Cytoplasmic vesicle;Perinuclear region;Nucleus;Mitochondrion;Cell junction Fanconi anemia complementation group O;Breast-ovarian cancer, familial, 3 0 PE1 -NX_O43504 9614 91 4.69 1 Cytoplasm;Lysosome NA 0 PE1 -NX_O43505 47119 415 6.77 11 Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 1 PE1 -NX_O43506 81603 726 6.02 14 Membrane NA 1 PE2 -NX_O43508 27216 249 9.5 17 Cell membrane;Secreted NA 1 PE1 -NX_O43511 85723 780 6.04 7 Cell membrane;Membrane Pendred syndrome;Deafness, autosomal recessive, 4 12 PE1 -NX_O43513 27245 233 5.5 5 Nucleus NA 0 PE1 -NX_O43516 51258 503 11.47 2 Cytoplasmic vesicle;Cytosol;Cytoskeleton;Ruffle;Cell membrane Wiskott-Aldrich syndrome 2 0 PE1 -NX_O43520 143695 1251 6.77 18 Golgi apparatus;Apical cell membrane;Endoplasmic reticulum;Cell membrane;Stereocilium Cholestasis, benign recurrent intrahepatic, 1;Cholestasis, progressive familial intrahepatic, 1;Cholestasis of pregnancy, intrahepatic 1 10 PE1 -NX_O43521 22171 198 8.43 2 Mitochondrion;Endomembrane system NA 0 PE1 -NX_O43524 71277 673 4.98 6 Mitochondrion matrix;Cytosol;Nucleus;Mitochondrion outer membrane NA 0 PE1 -NX_O43525 96742 872 8.98 8 Cell membrane Seizures, benign familial neonatal 2 6 PE1 -NX_O43526 95848 872 9.35 20 Endoplasmic reticulum;Cell membrane Epileptic encephalopathy, early infantile, 7;Seizures, benign familial neonatal 1 6 PE1 -NX_O43529 42207 356 8.11 2 Cytosol;Golgi apparatus membrane NA 1 PE1 -NX_O43541 53497 496 8.46 15 Nucleus;Golgi apparatus Craniosynostosis 7;Aortic valve disease 2 0 PE1 -NX_O43542 37850 346 8.81 14 Mitochondrion;Cytoplasm;Perinuclear region;Nucleus Breast cancer;Melanoma, cutaneous malignant 6 0 PE1 -NX_O43543 31956 280 5.67 7 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Centrosome Fanconi anemia, complementation group U 0 PE1 -NX_O43548 80778 720 6.01 15 Cytoplasm Peeling skin syndrome 2 0 PE1 -NX_O43555 12918 120 11.12 20 Secreted NA 0 PE2 -NX_O43556 49851 437 6.12 7 Golgi apparatus;Nucleoplasm;Cell membrane;Cytoplasmic vesicle;Dendrite;Sarcolemma;Cytoskeleton Dystonia 11, myoclonic 1 PE1 -NX_O43557 26350 240 9.09 19 Cytoplasm;Cell membrane;Secreted NA 1 PE1 -NX_O43559 54462 492 6.81 6 Nucleoplasm;Membrane NA 0 PE1 -NX_O43561 27930 262 4.27 16 Cell membrane;Golgi apparatus Immunodeficiency 52 1 PE1 -NX_O43566 61447 566 8.46 5 PML body;Nucleoplasm;Cytoplasm;Cell membrane;Centrosome;Cytoplasmic vesicle;Dendrite;Nucleus;Dendritic spine;Membrane;Postsynaptic density;Spindle;Spindle pole NA 0 PE1 -NX_O43567 42814 381 4.83 3 Endoplasmic reticulum membrane;Lysosome membrane;Cytosol;Cytoplasmic vesicle;Nucleoplasm;Late endosome membrane;Golgi apparatus membrane;Nucleus inner membrane NA 1 PE1 -NX_O43570 39451 354 6.73 15 Cytoplasmic vesicle;Nucleus;Membrane Hyperchlorhidrosis, isolated 1 PE1 -NX_O43572 73818 662 5.96 17 Mitochondrion;Cytoplasm;Cytosol;Cell membrane;Membrane Sudden cardiac death 0 PE1 -NX_O43581 45501 403 9.29 11 Synaptic vesicle membrane;Lysosome membrane;Cell membrane;Peroxisome membrane;Presynaptic cell membrane;Phagosome membrane;Secretory vesicle membrane NA 1 PE1 -NX_O43583 22092 198 5.21 12 Cytosol NA 0 PE1 -NX_O43586 47591 416 5.35 15 Uropodium;Cleavage furrow;Cytoplasm;Cell membrane;Perinuclear region;Lamellipodium;Cytoskeleton PAPA syndrome 0 PE1 -NX_O43592 109964 962 5.24 12 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_O43593 127495 1189 6.67 8 Nucleoplasm;Nucleus Hypotrichosis 4;Alopecia universalis congenita;Atrichia with papular lesions 0 PE1 -NX_O43597 34688 315 8.78 13 Endosome;Cytoskeleton;Ruffle membrane IgA nephropathy 3 0 PE1 -NX_O43598 19108 174 4.97 6 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_O43602 40574 365 9.33 X Cytosol;Cytoplasm;Cell projection Lissencephaly, X-linked 1;Subcortical band heterotopia X-linked 0 PE1 -NX_O43603 41700 387 9.6 17 Cell membrane NA 7 PE1 -NX_O43609 35122 319 8.65 4 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus;Membrane NA 0 PE1 -NX_O43610 31222 288 7.4 X Cytosol;Cytoplasm;Nucleolus;Membrane NA 0 PE1 -NX_O43612 13363 131 10.8 17 Cytoplasmic vesicle;Synapse;Rough endoplasmic reticulum Narcolepsy 1 0 PE1 -NX_O43613 47536 425 9.3 1 Cell membrane NA 7 PE1 -NX_O43614 50694 444 8.99 6 Cell membrane NA 7 PE1 -NX_O43615 51356 452 8.51 19 Mitochondrion;Mitochondrion matrix;Mitochondrion inner membrane NA 0 PE1 -NX_O43617 20274 180 4.88 1 Cytosol;Endoplasmic reticulum;Golgi apparatus;cis-Golgi network NA 0 PE1 -NX_O43623 29986 268 9.01 8 Cytoplasm;Nucleus Piebald trait;Waardenburg syndrome 2D 0 PE1 -NX_O43633 25104 222 5.87 19 Cytosol;Late endosome membrane;Nucleus;Cell membrane NA 0 PE1 -NX_O43638 35434 330 9.28 20 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_O43639 42915 380 6.49 2 Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_O43653 11959 114 4.75 8 Cell membrane NA 0 PE1 -NX_O43657 27563 245 8.44 X Cytosol;Membrane NA 4 PE1 -NX_O43660 57194 514 9.24 4 Nucleus speckle;Nucleus;Nucleus membrane NA 0 PE1 -NX_O43663 71607 620 6.29 15 Cytoplasm;Nucleus;Midbody;Spindle pole NA 0 PE1 -NX_O43665 20236 173 5.35 10 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_O43670 50751 478 9.19 17 Kinetochore;Spindle;Nucleus NA 0 PE1 -NX_O43674 21750 189 9.62 3 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane NA 1 PE1 -NX_O43676 11402 98 9.19 2 Mitochondrion inner membrane Mitochondrial complex I deficiency 1 PE1 -NX_O43677 8734 76 10.2 4 Mitochondrion;Mitochondrion inner membrane;Cell membrane NA 1 PE1 -NX_O43678 10922 99 9.62 5 Mitochondrion inner membrane NA 0 PE1 -NX_O43679 42793 373 6.47 4 Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_O43680 19715 179 9.15 6 Nucleus NA 0 PE2 -NX_O43681 38793 348 4.81 19 Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_O43683 122375 1085 6.03 2 Cytosol;Kinetochore;Nucleus;Nucleoplasm NA 0 PE1 -NX_O43684 37155 328 6.36 10 Nucleoplasm;Kinetochore;Nucleus NA 0 PE1 -NX_O43687 11465 104 4.89 6 Apical cell membrane;Lateral cell membrane NA 0 PE1 -NX_O43688 32574 288 8.65 19 Mitochondrion;Membrane NA 6 PE1 -NX_O43692 29065 258 8.37 8 Cytosol;Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_O43699 49913 453 6.7 19 Cell membrane;Secreted NA 1 PE1 -NX_O43704 34899 296 6.57 4 Nucleoplasm;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_O43707 104854 911 5.27 19 Cytosol;Cytoplasm;Nucleus;Cell junction;Stress fiber Focal segmental glomerulosclerosis 1 0 PE1 -NX_O43708 24212 216 8.8 14 Cytosol;Cytoplasm;Nucleus Maleylacetoacetate isomerase deficiency 0 PE1 -NX_O43709 31880 281 8.95 7 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleolus;Nucleus NA 0 PE1 -NX_O43711 31867 291 9.95 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_O43715 8786 76 5.37 12 Mitochondrion;Nucleoplasm;Perinuclear region;Mitochondrion intermembrane space NA 0 PE1 -NX_O43716 15086 136 4.94 12 Mitochondrion NA 0 PE1 -NX_O43719 85853 755 4.29 X Nucleoplasm;Nucleus NA 0 PE1 -NX_O43731 25027 214 9.07 22 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 7 PE1 -NX_O43734 64666 574 6.27 6 Cytoplasmic vesicle;Golgi apparatus Candidiasis, familial, 8;Psoriasis 13 0 PE1 -NX_O43736 29741 263 5.65 X Nucleoplasm;Membrane NA 1 PE1 -NX_O43739 46349 400 5.35 7 Cytosol;Nucleoplasm;Tight junction;Cell membrane;Adherens junction NA 0 PE1 -NX_O43741 30302 272 5.99 1 Nucleoplasm NA 0 PE1 -NX_O43745 22452 196 5.89 16 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_O43747 91351 822 6.36 16 Cytosol;Cytoplasmic vesicle;Golgi apparatus;Clathrin-coated vesicle membrane NA 0 PE1 -NX_O43749 34866 312 7.59 16 Cell membrane NA 7 PE2 -NX_O43752 29176 255 4.84 1 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_O43759 25456 233 4.5 22 Cytosol;Synaptic vesicle membrane;Melanosome NA 4 PE1 -NX_O43760 24810 224 4.75 17 Cytoplasmic vesicle membrane;Lipid droplet;Synaptic vesicle membrane NA 4 PE1 -NX_O43761 24555 229 8.42 16 Synaptic vesicle membrane;Synapse;Cell membrane NA 4 PE1 -NX_O43763 30251 284 11.09 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_O43765 34063 313 4.81 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O43766 41911 372 8.84 4 Mitochondrion;Nucleoplasm Hyperglycinemia, lactic acidosis, and seizures 0 PE1 -NX_O43768 13389 121 6.62 1 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_O43772 32944 301 9.48 3 Cytosol;Mitochondrion;Mitochondrion inner membrane Carnitine-acylcarnitine translocase deficiency 6 PE1 -NX_O43776 62943 548 5.9 18 Cytosol;Cytoplasm NA 0 PE1 -NX_O43781 65714 588 9.41 1 Nucleus speckle;Cytoplasmic granule;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Centrosome NA 0 PE1 -NX_O43790 53501 486 5.56 12 Cytosol Monilethrix 0 PE1 -NX_O43791 42132 374 5.58 17 Nucleus speckle;Nucleus NA 0 PE1 -NX_O43795 131985 1136 9.43 2 Cell membrane NA 0 PE1 -NX_O43805 13596 119 5.37 9 Nucleus;Centrosome NA 0 PE1 -NX_O43808 34567 307 10.09 22 Cytoplasm;Peroxisome membrane;Peroxisome NA 6 PE1 -NX_O43809 26227 227 8.85 16 Cytoplasm;Nucleus;Centrosome;Microtubule organizing center NA 0 PE1 -NX_O43812 19347 170 11.17 10 Nucleus NA 0 PE1 -NX_O43813 45283 399 7.86 2 Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_O43815 86132 780 5.12 2 Nucleoplasm;Cytoplasm;Cytosol;Dendritic spine;Membrane NA 0 PE1 -NX_O43818 51841 475 7.97 3 Nucleolus;Nucleus NA 0 PE1 -NX_O43819 29810 266 9.01 22 Mitochondrion;Mitochondrion inner membrane Myopia 6;Leigh syndrome;Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 1 PE1 -NX_O43820 46501 417 8.55 3 Cell membrane;Secreted;Acrosome;Endoplasmic reticulum;Early endosome NA 0 PE1 -NX_O43822 28340 256 6.97 21 Mitochondrion;Cytoplasm;Nucleoplasm;Photoreceptor outer segment;Cilium basal body Retinal dystrophy with or without macular staphyloma;Spondylometaphyseal dysplasia, axial 0 PE1 -NX_O43823 76108 692 5.03 19 Nucleoplasm;Nucleus matrix;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 -NX_O43824 56897 516 9.49 X Mitochondrion NA 0 PE1 -NX_O43825 49213 422 9.5 1 Golgi apparatus membrane NA 1 PE1 -NX_O43826 46360 429 8.85 11 Endoplasmic reticulum membrane;Mitochondrion Glycogen storage disease 1D;Glycogen storage disease 1C;Glycogen storage disease 1B 10 PE1 -NX_O43827 40018 346 7.98 1 Secreted NA 0 PE1 -NX_O43829 50956 449 5.69 18 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_O43830 38241 326 9.35 22 Nucleus NA 0 PE3 -NX_O43837 42184 385 8.64 20 Mitochondrion Retinitis pigmentosa 46 0 PE1 -NX_O43847 131701 1151 4.88 1 Nucleoplasm NA 0 PE1 -NX_O43852 37107 315 4.47 7 Endoplasmic reticulum membrane;Melanosome;Golgi apparatus;Secreted;Sarcoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 -NX_O43854 53765 480 7.08 5 Secreted NA 0 PE1 -NX_O43861 129304 1147 7.67 18 trans-Golgi network membrane NA 10 PE1 -NX_O43865 58951 530 6.49 1 Cytosol;Apical cell membrane;Microsome;Endoplasmic reticulum NA 0 PE1 -NX_O43866 38088 347 5.28 1 Cytoplasm;Secreted NA 0 PE1 -NX_O43868 71926 658 8.29 15 Membrane NA 14 PE2 -NX_O43869 41996 369 8.71 1 Cell membrane NA 7 PE3 -NX_O43889 41379 371 4.82 9 Endoplasmic reticulum membrane;Cytosol;Nucleus;Golgi apparatus;Cytoplasm NA 1 PE1 -NX_O43895 75625 674 5.69 X Cell membrane Angioedema induced by ACE inhibitors 0 PE1 -NX_O43896 122947 1103 6.47 17 Cytoskeleton Spastic ataxia 2, autosomal recessive 0 PE1 -NX_O43897 114709 1013 5.69 4 Cytoplasmic vesicle;Secreted Atrial septal defect 6 0 PE1 -NX_O43900 68609 615 8.24 X Cytoplasm;Nucleus;Centrosome;Cell membrane NA 0 PE1 -NX_O43903 34945 313 8.76 11 Nucleolus;Stress fiber;Cytosol;Cell membrane;Nucleus;Membrane NA 0 PE1 -NX_O43908 18234 158 9.28 12 Membrane NA 1 PE2 -NX_O43909 104749 919 6.08 8 Endoplasmic reticulum membrane;Golgi apparatus Immunoskeletal dysplasia with neurodevelopmental abnormalities 1 PE1 -NX_O43913 50283 435 7.63 7 Cytosol;Nucleus NA 0 PE1 -NX_O43914 12179 113 8.55 19 Membrane Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 PE1 -NX_O43915 40444 354 8.16 X Secreted NA 0 PE1 -NX_O43916 46715 411 9.17 11 Golgi apparatus membrane NA 1 PE1 -NX_O43918 57727 545 7.53 21 Cytoplasm;Nucleus Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia 0 PE1 -NX_O43920 12518 106 9.27 1 Mitochondrion inner membrane;Mitochondrion intermembrane space NA 0 PE1 -NX_O43921 23878 213 6.99 19 Cytosol;Mitochondrion;Cell membrane NA 0 PE1 -NX_O43924 17420 150 5.57 2 Cytosol;Cytoplasmic vesicle membrane;Cilium basal body Joubert syndrome 22 0 PE1 -NX_O43927 12664 109 10.35 4 Secreted NA 0 PE1 -NX_O43929 50377 436 8.08 2 Nucleolus;Nucleus Meier-Gorlin syndrome 2 0 PE1 -NX_O43930 31708 277 6.46 Y NA NA 0 PE5 -NX_O43933 142867 1283 5.91 7 Cytoplasm;Peroxisome membrane;Peroxisome Peroxisome biogenesis disorder 1A;Peroxisome biogenesis disorder 1B;Peroxisome biogenesis disorder complementation group 1;Heimler syndrome 1 0 PE1 -NX_O43934 49202 449 5.48 17 Nucleus speckle;Membrane NA 12 PE1 -NX_O60216 71690 631 4.54 8 Nucleoplasm;Nucleus;Centromere;Chromosome Cornelia de Lange syndrome 4 0 PE1 -NX_O60218 36020 316 7.66 7 Secreted;Lysosome NA 0 PE1 -NX_O60220 10998 97 5.08 X Mitochondrion;Mitochondrion inner membrane Mohr-Tranebjaerg syndrome 0 PE1 -NX_O60224 21858 188 9.16 X NA NA 0 PE1 -NX_O60225 21660 188 9.35 X NA NA 0 PE1 -NX_O60229 340174 2985 5.72 3 Cytosol;Cytoplasm;Cytoskeleton;Nucleoplasm Coronary heart disease 5 0 PE1 -NX_O60231 119264 1041 6.39 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_O60232 21474 199 5.12 11 Cytosol NA 0 PE1 -NX_O60234 16801 142 5.18 19 NA NA 0 PE1 -NX_O60235 46263 418 8.69 4 Cell membrane;Secreted NA 1 PE1 -NX_O60237 110404 982 5.53 1 Cytoskeleton;Cell membrane;Stress fiber NA 0 PE1 -NX_O60238 23930 219 5.52 8 Nucleus speckle;Cytoplasm;Nucleus envelope;Endoplasmic reticulum;Mitochondrion outer membrane;Nucleus;Membrane;Mitochondrion NA 1 PE1 -NX_O60239 50425 455 4.92 3 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_O60240 55990 522 6.03 15 Lipid droplet;Endoplasmic reticulum;Peroxisome Lipodystrophy, familial partial, 4 0 PE1 -NX_O60241 172656 1585 7.5 1 Centrosome;Cell membrane NA 7 PE1 -NX_O60242 171518 1522 6.69 6 Cell membrane NA 7 PE1 -NX_O60243 48226 411 9.04 2 Nucleoplasm;Membrane Hypogonadotropic hypogonadism 15 with or without anosmia 1 PE1 -NX_O60244 160607 1454 8.97 X Nucleoplasm;Nucleus NA 0 PE1 -NX_O60245 116071 1069 5.02 4 Cell junction;Cell membrane NA 1 PE1 -NX_O60248 25251 233 9.78 17 Cytoplasmic vesicle;Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 -NX_O60256 40926 369 7.08 17 Nucleoplasm;Cytosol NA 0 PE1 -NX_O60258 24891 216 10.43 8 Secreted Hypogonadotropic hypogonadism 20 with or without anosmia 0 PE1 -NX_O60259 28048 260 7.52 19 Cytoplasmic vesicle;Cytoplasm;Secreted NA 0 PE1 -NX_O60260 51641 465 6.71 6 Cytosol;Mitochondrion;Nucleus;Endoplasmic reticulum;Nucleus speckle Parkinson disease;Parkinson disease 2 0 PE1 -NX_O60262 7522 68 8.71 19 Cell membrane NA 0 PE1 -NX_O60264 121905 1052 8.27 4 Nucleolus;Nucleus NA 0 PE1 -NX_O60266 128960 1144 6.15 2 Cytoplasm;Golgi apparatus;Cilium;Cell membrane Obesity 12 PE1 -NX_O60268 46639 411 4.98 16 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_O60269 47450 458 6.28 10 NA NA 0 PE1 -NX_O60271 146205 1321 5.05 17 Cytosol;Cytoplasm;Perinuclear region;Acrosome;Microtubule organizing center NA 0 PE1 -NX_O60279 68021 629 4.79 3 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 1 PE1 -NX_O60281 304816 2723 7.27 6 Nucleus;Nucleus membrane NA 0 PE1 -NX_O60282 109495 957 5.86 2 Cytoplasmic vesicle;Dendrite;Cytoskeleton Cortical dysplasia, complex, with other brain malformations 2 0 PE1 -NX_O60284 115155 1047 5.72 8 Nucleus NA 0 PE1 -NX_O60285 74305 661 8.97 12 Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_O60287 254389 2271 6.03 21 Nucleolus NA 0 PE1 -NX_O60290 131654 1169 6.87 7 Mitochondrion;Nucleus NA 0 PE2 -NX_O60291 60753 552 5.01 16 Cytosol;Nucleus;Cell membrane;Early endosome NA 0 PE1 -NX_O60292 194610 1781 8.57 19 Nucleus speckle;Apical cell membrane;Nucleus membrane Cataract 45 0 PE1 -NX_O60293 226356 1989 8.39 12 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_O60294 75602 686 6.25 15 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_O60296 101419 914 5.15 2 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Early endosome;Mitochondrion NA 0 PE1 -NX_O60299 71791 673 7.56 20 Cytoplasmic vesicle;Postsynaptic density;Cytoskeleton;Synapse NA 0 PE1 -NX_O60303 180918 1618 5.57 16 Nucleus speckle;Cytoskeleton;Cilium axoneme;Cell membrane;Cilium basal body Joubert syndrome 26 0 PE1 -NX_O60304 53674 480 6.84 16 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_O60306 171295 1485 5.96 15 Nucleoplasm;Nucleus NA 0 PE1 -NX_O60307 143137 1309 8.24 19 Nucleus speckle NA 0 PE1 -NX_O60308 104448 925 7.54 1 Centriole;Centrosome;Spindle pole;Cilium Joubert syndrome 25 0 PE1 -NX_O60309 180621 1634 5.2 17 Membrane NA 1 PE1 -NX_O60312 167688 1499 8.7 15 Endoplasmic reticulum membrane;Cell membrane Angelman syndrome 10 PE1 -NX_O60313 111631 960 7.87 3 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane;Mitochondrion membrane;Mitochondrion intermembrane space Behr syndrome;Dominant optic atrophy plus syndrome;Optic atrophy 1;Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type 1 PE1 -NX_O60315 136447 1214 5.9 2 Cytosol;Nucleolus;Nucleus Mowat-Wilson syndrome 0 PE1 -NX_O60318 218405 1980 5.99 21 Nucleus membrane;Cytosol;Cytoplasm;Nuclear pore complex;Nucleus envelope;Nucleoplasm;Nucleus NA 0 PE1 -NX_O60320 56544 539 5.18 15 Nucleus;Membrane NA 4 PE2 -NX_O60330 100955 932 4.9 5 Cell membrane NA 1 PE1 -NX_O60331 73260 668 5.17 19 Phagocytic cup;Uropodium;Nucleoplasm;Cytoplasm;Cell membrane;Endomembrane system;Cytosol;Focal adhesion;Nucleus;Ruffle membrane;Adherens junction Lethal congenital contracture syndrome 3 0 PE1 -NX_O60333 204476 1816 5.42 1 Cytoplasmic vesicle;Mitochondrion;Cytoskeleton;Nucleolus;Cytosol Pheochromocytoma;Neuroblastoma 1;Charcot-Marie-Tooth disease 2A1 0 PE1 -NX_O60336 163818 1514 6.31 15 Cytoplasm;Nucleolus;Nucleus;Spindle pole Nephronophthisis 20 0 PE1 -NX_O60337 102545 910 5.85 5 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 14 PE1 -NX_O60341 92903 852 6.11 1 Nucleoplasm;Cytosol;Nucleus Cleft palate, psychomotor retardation, and distinctive facial features 0 PE1 -NX_O60343 146563 1298 6.57 13 Cytosol;Cytoplasm Diabetes mellitus, non-insulin-dependent, 5 0 PE1 -NX_O60346 184672 1717 5.88 18 Cytoplasm;Nucleus;Cell membrane;Membrane NA 0 PE1 -NX_O60347 85626 775 5.56 10 Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_O60353 79292 706 8.29 8 Cell surface;Cytoplasmic vesicle membrane;Apical cell membrane;Cell membrane;Membrane Nail disorder, non-syndromic congenital, 10 7 PE1 -NX_O60356 8873 82 9.98 16 Cytosol;Nucleus NA 0 PE1 -NX_O60359 35549 315 9.53 16 Membrane NA 4 PE1 -NX_O60361 15529 137 8.76 12 NA NA 0 PE5 -NX_O60381 57645 514 5.79 7 Nucleus speckle;Nucleus NA 0 PE1 -NX_O60383 51444 454 9.19 5 Secreted Premature ovarian failure 14 0 PE1 -NX_O60384 11997 105 8.91 19 NA NA 0 PE5 -NX_O60391 112992 1043 9.37 19 Postsynaptic cell membrane;Cell membrane NA 3 PE2 -NX_O60393 73906 691 5.79 7 Nucleus Premature ovarian failure 5 0 PE1 -NX_O60397 11841 106 9.57 4 Mitochondrion inner membrane NA 0 PE5 -NX_O60403 34663 315 8.71 19 Cell membrane NA 7 PE2 -NX_O60404 35721 316 9.22 19 Cell membrane NA 7 PE2 -NX_O60412 35323 319 7.99 19 Cell membrane NA 7 PE3 -NX_O60422 50037 494 9.9 19 Nucleoplasm;Nucleus NA 0 PE3 -NX_O60423 146752 1300 8.18 19 Endoplasmic reticulum membrane;Acrosome membrane NA 10 PE1 -NX_O60427 51964 444 8.98 11 Endoplasmic reticulum membrane;Mitochondrion NA 4 PE1 -NX_O60431 39297 355 7.14 19 Cell membrane NA 7 PE2 -NX_O60437 204747 1756 5.47 16 Cytosol;Nucleoplasm;Cell membrane;Desmosome;Nucleus;Mitochondrion;Cytoskeleton NA 0 PE1 -NX_O60443 54555 496 5.03 7 Cytosol;Cell membrane Deafness, autosomal dominant, 5 0 PE1 -NX_O60447 92949 810 5.78 1 Cytoplasmic vesicle;Spindle;Nucleus;Centrosome;Golgi apparatus NA 0 PE1 -NX_O60449 198311 1722 6.22 2 Golgi apparatus;Membrane NA 1 PE1 -NX_O60462 104831 931 5.04 2 Cytoplasmic vesicle;Membrane;Cell membrane;Secreted NA 1 PE1 -NX_O60469 222260 2012 7.78 21 Synapse;Secreted;Cytosol;Cell membrane;Axon;Nucleoplasm NA 1 PE1 -NX_O60476 73004 641 7.17 1 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_O60477 88760 761 9.15 9 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_O60478 45599 399 8.95 1 Lysosome membrane NA 7 PE1 -NX_O60479 31738 287 8.98 17 Nucleus Trichodentoosseous syndrome;Amelogenesis imperfecta 4 0 PE1 -NX_O60481 50569 467 8.89 X Nucleoplasm;Cytoplasm;Nucleus VACTERL association X-linked with or without hydrocephalus;Congenital heart defects, multiple types, 1, X-linked;Heterotaxy, visceral, 1, X-linked 0 PE1 -NX_O60486 175742 1568 7.78 12 Mitochondrion;Membrane NA 1 PE1 -NX_O60487 24484 215 6.53 11 Cell junction;Membrane NA 1 PE1 -NX_O60488 79188 711 8.66 X Endoplasmic reticulum membrane;Microsome membrane;Peroxisome membrane;Golgi apparatus;Mitochondrion outer membrane;Mitochondrion Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis;Mental retardation, X-linked 63 1 PE1 -NX_O60493 18762 162 8.71 6 Cytoplasm;Phagosome;Early endosome NA 0 PE1 -NX_O60494 398736 3623 5.14 10 Endosome;Lysosome membrane;Coated pit;Apical cell membrane;Cell membrane Recessive hereditary megaloblastic anemia 1 0 PE1 -NX_O60496 45379 412 5.78 8 NA NA 0 PE1 -NX_O60499 28114 249 4.81 19 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_O60500 134742 1241 5.42 19 Cell membrane Nephrotic syndrome 1 1 PE1 -NX_O60502 102915 916 4.82 10 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_O60503 150701 1353 7.07 16 Cytosol;Cell membrane NA 12 PE1 -NX_O60504 75341 671 9.48 8 Nucleoplasm;Cytoskeleton;Focal adhesion;Nucleus;Cell junction NA 0 PE1 -NX_O60506 69603 623 8.68 6 Cytosol;Cytoplasm;Microsome;Endoplasmic reticulum;Nucleoplasm;Nucleus NA 0 PE1 -NX_O60507 42188 370 9.21 7 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_O60508 65521 579 6.62 6 Nucleus NA 0 PE1 -NX_O60512 43928 393 9.34 1 Golgi stack membrane;Golgi apparatus NA 1 PE1 -NX_O60513 40041 344 9.18 3 Golgi stack membrane;Golgi apparatus NA 1 PE1 -NX_O60516 10873 100 4.37 5 NA NA 0 PE1 -NX_O60518 124714 1105 4.88 9 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_O60519 13784 120 9.93 12 Cytosol;Mitochondrion;Nucleus;Nucleoplasm NA 0 PE1 -NX_O60522 236517 2096 5.14 6 Cytoplasm NA 0 PE1 -NX_O60524 122954 1076 5.97 14 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_O60542 16600 156 9.54 19 Secreted NA 0 PE2 -NX_O60543 24687 219 9.34 18 Lipid droplet;Nucleus NA 0 PE1 -NX_O60547 41950 372 6.87 6 NA NA 0 PE1 -NX_O60548 48748 495 6.76 1 Nucleus NA 0 PE1 -NX_O60551 56980 498 7.23 10 Cytosol;Cytoplasm;Golgi apparatus;Cell membrane;Membrane NA 0 PE1 -NX_O60563 80685 726 8.9 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_O60565 20697 184 9.53 15 Secreted Polyposis syndrome, mixed hereditary 1 0 PE1 -NX_O60566 119545 1050 5.2 15 Cytosol;Cytoplasm;Kinetochore;Nucleus;Centrosome Mosaic variegated aneuploidy syndrome 1;Premature chromatid separation trait 0 PE1 -NX_O60568 84785 738 5.69 7 Endoplasmic reticulum lumen;Endoplasmic reticulum membrane;Extracellular space;Rough endoplasmic reticulum;Secreted Lysyl hydroxylase 3 deficiency 0 PE1 -NX_O60573 28362 245 8.97 2 Cytosol;Mitochondrion NA 0 PE1 -NX_O60575 9454 86 7.57 9 Cytoplasmic vesicle;Nucleus;Golgi apparatus;Secreted NA 0 PE2 -NX_O60583 81029 730 9.04 2 Cytosol;Nucleoplasm;Perinuclear region;Nucleus;Cell membrane NA 0 PE1 -NX_O60602 97834 858 6.21 1 Cytosol;Nucleus;Golgi apparatus;Membrane Systemic lupus erythematosus 1 1 PE1 -NX_O60603 89838 784 6.17 4 Mitochondrion;Phagosome membrane;Nucleus;Membrane raft;Membrane NA 1 PE1 -NX_O60609 44511 400 8.06 5 Cytosol;Cell membrane NA 0 PE1 -NX_O60610 141347 1272 5.31 5 Cytoplasm;Cell membrane;Centrosome;Nucleus;Ruffle membrane;Cytoskeleton;Spindle Deafness, autosomal dominant, 1;Seizures, cortical blindness, and microcephaly syndrome 0 PE1 -NX_O60613 18092 165 4.96 1 Endoplasmic reticulum lumen;Cytosol;Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_O60635 26301 241 5.12 1 Cytoplasmic vesicle;Nucleoplasm;Lysosome membrane NA 4 PE1 -NX_O60636 24148 221 7.98 1 Nucleoplasm;Membrane NA 4 PE1 -NX_O60637 28018 253 5.52 15 Nucleoplasm;Golgi apparatus;Membrane NA 4 PE1 -NX_O60641 92502 907 4.69 6 Cytosol;Coated pit;Centrosome;Cell membrane NA 0 PE1 -NX_O60645 86845 756 5.8 5 Golgi apparatus;Nucleoplasm;Cytoplasm;Midbody;Perinuclear region;Mitochondrion;Growth cone NA 0 PE1 -NX_O60656 59941 530 8.08 2 Endoplasmic reticulum membrane;Microsome NA 1 PE1 -NX_O60658 93304 829 5.75 15 Golgi apparatus NA 0 PE1 -NX_O60662 68037 606 5.14 2 Endoplasmic reticulum membrane;Ruffle;Pseudopodium;Sarcoplasmic reticulum membrane;Cytosol;Cytoplasm;Cell membrane;Nucleus;Cytoskeleton;M line Nemaline myopathy 9 0 PE1 -NX_O60663 44917 402 6.22 9 Nucleus Nail-patella syndrome 0 PE1 -NX_O60664 47075 434 5.3 19 Cytosol;Endosome membrane;Lipid droplet;Cytoplasm NA 0 PE1 -NX_O60667 43146 390 9.78 1 Cytosol;Focal adhesion;Secreted;Nucleus;Membrane NA 1 PE1 -NX_O60669 52200 478 9.37 12 Nucleoplasm;Cell membrane NA 12 PE1 -NX_O60671 31827 282 4.73 5 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_O60673 352776 3130 8.72 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_O60674 130674 1132 6.82 9 Nucleoplasm;Cytoplasm;Cell membrane;Endomembrane system;Focal adhesion;Nucleus Leukemia, acute myelogenous;Budd-Chiari syndrome;Myelofibrosis;Thrombocythemia 3;Polycythemia vera 0 PE1 -NX_O60675 17523 156 10.1 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_O60676 16275 142 9.05 20 Secreted NA 0 PE1 -NX_O60678 59903 531 5.18 11 Cytoplasm NA 0 PE1 -NX_O60682 22068 206 9.23 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_O60683 37069 326 10.03 1 Nucleoplasm;Peroxisome membrane Peroxisome biogenesis disorder complementation group 7;Peroxisome biogenesis disorder 6A;Peroxisome biogenesis disorder 6B 0 PE1 -NX_O60684 60030 536 4.89 1 Nucleoplasm;Cytosol NA 0 PE1 -NX_O60687 52972 465 7.05 X Cytoplasm;Cytoskeleton;Cell surface;Synapse;Secreted Rolandic epilepsy with speech dyspraxia and mental retardation X-linked 0 PE1 -NX_O60688 13575 119 8.21 22 Nucleus NA 0 PE2 -NX_O60701 55024 494 6.73 4 Nucleoplasm NA 0 PE1 -NX_O60704 41912 377 9.22 22 Golgi apparatus membrane;Endoplasmic reticulum NA 1 PE1 -NX_O60706 174223 1549 7.05 12 Cytosol;Nucleoplasm;Membrane Hypertrichotic osteochondrodysplasia;Atrial fibrillation, familial, 12;Cardiomyopathy, dilated 1O 15 PE1 -NX_O60711 43332 386 5.62 11 Nucleus speckle;Cytosol;Cytoplasm;Focal adhesion;Cell membrane;Perinuclear region;Nucleus;Podosome NA 0 PE1 -NX_O60716 108170 968 5.86 11 Cytoplasm;Nucleus;Cell membrane Blepharocheilodontic syndrome 2 0 PE1 -NX_O60721 121374 1099 4.9 15 Cytoskeleton;Membrane Night blindness, congenital stationary, 1D 11 PE1 -NX_O60725 31938 284 8.13 1 Endoplasmic reticulum membrane NA 8 PE1 -NX_O60729 56802 498 9.19 9 Nucleoplasm;Nucleolus NA 0 PE1 -NX_O60732 123643 1142 4.23 X Cytosol;Nucleoplasm NA 0 PE1 -NX_O60733 89903 806 6.86 22 Cytosol;Cytoplasm;Microtubule organizing center;Membrane Parkinson disease 14;Neurodegeneration with brain iron accumulation 2A;Neurodegeneration with brain iron accumulation 2B 0 PE1 -NX_O60739 12824 113 6.82 3 NA NA 0 PE1 -NX_O60741 98796 890 8.63 5 Cell membrane Epileptic encephalopathy, early infantile, 24 6 PE1 -NX_O60749 58471 519 5.04 5 Lamellipodium;Endosome;Early endosome membrane;Lysosome NA 0 PE1 -NX_O60755 39573 368 10.23 22 Cell membrane NA 7 PE1 -NX_O60756 9784 84 10.67 9 NA NA 0 PE5 -NX_O60759 40010 359 6.55 2 Cytosol;Nucleoplasm;Early endosome;Cytoplasm NA 0 PE1 -NX_O60760 23344 199 5.54 4 Cytoplasm NA 0 PE1 -NX_O60762 29634 260 9.57 20 Endoplasmic reticulum Congenital disorder of glycosylation 1E 0 PE1 -NX_O60763 107895 962 4.85 4 Cytosol;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 -NX_O60765 69237 605 9.65 5 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_O60774 61291 539 5.99 1 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE5 -NX_O60779 55400 497 6.35 1 Cytosol;Cell membrane Thiamine-responsive megaloblastic anemia syndrome 12 PE1 -NX_O60783 15139 128 11.42 1 Mitochondrion;Nucleus membrane NA 0 PE1 -NX_O60784 53818 492 4.59 22 Cytosol;Cytoplasm;Membrane;Cell membrane;Microtubule organizing center NA 0 PE1 -NX_O60806 48238 448 6.66 1 Nucleus speckle;Nucleus ACTH deficiency, isolated 0 PE1 -NX_O60809 55211 474 8.71 1 NA NA 0 PE2 -NX_O60810 55439 478 8.69 1 NA NA 0 PE2 -NX_O60811 54872 474 8.12 1 NA NA 0 PE2 -NX_O60812 32142 293 4.93 1 Nucleus NA 0 PE1 -NX_O60813 55344 478 8.83 1 NA NA 0 PE2 -NX_O60814 13890 126 10.31 6 Nucleus;Chromosome NA 0 PE1 -NX_O60825 58477 505 8.61 1 Nucleus NA 0 PE1 -NX_O60826 70756 627 6.3 X Cytosol;Nucleoplasm;Endosome Ritscher-Schinzel syndrome 2 0 PE1 -NX_O60828 30472 265 5.92 X Nucleus speckle;Nucleus;Cytoplasmic granule Renpenning syndrome 1 0 PE1 -NX_O60829 11153 102 4.71 X Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_O60830 18273 172 9.21 X Mitochondrion;Cytoskeleton;Mitochondrion inner membrane NA 3 PE1 -NX_O60831 19258 178 9.41 X Endosome membrane;Cytoplasmic vesicle;Endoplasmic reticulum NA 4 PE1 -NX_O60832 57674 514 9.46 X Cytoplasm;Nucleolus;Nucleus;Cajal body Dyskeratosis congenita, X-linked;Hoyeraal-Hreidarsson syndrome 0 PE1 -NX_O60840 220678 1977 5.76 X Membrane Aaland island eye disease;Cone-rod dystrophy, X-linked 3;Night blindness, congenital stationary, 2A 24 PE1 -NX_O60841 138827 1220 5.39 2 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_O60844 18147 167 9.43 16 Cytoplasmic vesicle lumen;Extracellular matrix;Golgi apparatus lumen NA 0 PE1 -NX_O60858 46988 407 5.75 13 Endoplasmic reticulum membrane NA 1 PE1 -NX_O60861 54371 476 6.91 17 Cytoplasm;Focal adhesion;Cytoskeleton;Cell membrane NA 0 PE1 -NX_O60869 16369 148 9.95 9 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_O60870 45374 393 9.07 10 Cytoplasm;Nucleus NA 0 PE1 -NX_O60879 125569 1101 6.2 X Cytoplasmic vesicle;Cytosol;Nucleolus;Endoplasmic reticulum;Early endosome Premature ovarian failure 2A 0 PE1 -NX_O60880 14187 128 8.74 X Cytoplasm Lymphoproliferative syndrome, X-linked, 1 0 PE1 -NX_O60882 54387 483 8.92 11 Extracellular matrix Amelogenesis imperfecta, hypomaturation type, 2A2 0 PE1 -NX_O60883 52771 481 7.37 1 Cilium membrane;Cell membrane NA 7 PE1 -NX_O60884 45746 412 6.06 16 Cytosol;Cytoskeleton;Nucleolus;Membrane NA 0 PE1 -NX_O60885 152219 1362 9.23 19 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_O60888 19116 179 5.42 6 Focal adhesion;Cell membrane NA 0 PE1 -NX_O60890 91641 802 8.08 X Synapse;Cytoplasm;Cell membrane;Axon;Dendrite;Nucleus;Dendritic spine Mental retardation, X-linked, syndromic, OPHN1-related 0 PE1 -NX_O60894 16988 148 8.55 2 Nucleoplasm;Nucleus membrane;Membrane NA 1 PE1 -NX_O60895 19608 175 5.49 17 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_O60896 16518 148 5.32 7 Cell membrane;Membrane NA 1 PE1 -NX_O60902 34953 331 8.99 3 Nucleus NA 0 PE1 -NX_O60906 47646 423 6.49 6 Cytoplasmic vesicle;Cell junction;Cell membrane;Membrane NA 2 PE1 -NX_O60907 62496 577 6.08 X Nucleolus;Nucleus NA 0 PE1 -NX_O60909 41972 372 9.47 1 Cytoplasmic vesicle;Golgi stack membrane;Golgi apparatus NA 1 PE1 -NX_O60911 37329 334 8.98 9 Cytosol;Nucleolus;Nucleus;Cell membrane;Lysosome NA 0 PE1 -NX_O60921 31691 280 6.37 7 Cytosol;Nucleus NA 0 PE1 -NX_O60925 14210 122 6.32 5 Cytosol;Cytoplasm;Nucleolus;Cell membrane NA 0 PE1 -NX_O60927 13952 126 6.52 6 Cytoplasmic vesicle NA 0 PE1 -NX_O60928 40530 360 5.84 2 Membrane Snowflake vitreoretinal degeneration;Leber congenital amaurosis 16 2 PE1 -NX_O60930 32064 286 9.28 2 Cytoplasm Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 0 PE1 -NX_O60931 41738 367 9.12 17 Cytoplasmic vesicle;Cytoskeleton;Lysosome membrane;Melanosome;Cell membrane Cystinosis, adult, non-nephropathic type;Cystinosis, late-onset juvenile or adolescent nephropathic type;Cystinosis, nephropathic type 7 PE1 -NX_O60934 84959 754 6.5 8 PML body;Golgi apparatus;Nucleoplasm;Telomere;Nucleus;Chromosome Nijmegen breakage syndrome;Breast cancer;Aplastic anemia 0 PE1 -NX_O60936 22629 208 4.11 16 Nucleolus;Cytosol;Cytoplasm;Sarcoplasmic reticulum;Nucleus;Membrane;Mitochondrion Myoclonus, familial cortical 0 PE1 -NX_O60938 40509 352 7.11 12 Extracellular matrix Cornea plana 2, autosomal recessive 0 PE1 -NX_O60939 24326 215 5.98 11 Membrane Atrial fibrillation, familial, 14 1 PE1 -NX_O60941 71356 627 8.11 2 Mitochondrion;Cytoplasm NA 0 PE1 -NX_O60942 68557 597 8.43 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_O71037 79252 699 9.2 19 Virion;Cell membrane NA 1 PE1 -NX_O75015 26216 233 6.22 1 Cell membrane;Secreted NA 0 PE1 -NX_O75019 53275 489 7.97 19 Membrane NA 1 PE1 -NX_O75022 69386 631 6.45 19 Cell membrane NA 1 PE1 -NX_O75023 64126 590 6.92 19 Membrane NA 1 PE1 -NX_O75027 82641 752 9.37 X Mitochondrion;Mitochondrion inner membrane Anemia, sideroblastic, spinocerebellar ataxia 6 PE1 -NX_O75030 58795 526 5.93 3 Nucleus Melanoma, cutaneous malignant 8;Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;Waardenburg syndrome 2, with ocular albinism, autosomal recessive;Tietz albinism-deafness syndrome;Waardenburg syndrome 2A 0 PE1 -NX_O75031 37645 334 5.43 21 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_O75037 182662 1637 6.7 1 Axon;Dendrite;Cytoplasmic vesicle;Growth cone;Cytoskeleton NA 0 PE1 -NX_O75038 154668 1416 8.04 1 Cytoplasm;Cell membrane NA 0 PE1 -NX_O75044 120871 1071 6.25 1 Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus;Phagosome;Dendritic spine;Postsynaptic density;Lamellipodium;Postsynaptic cell membrane NA 0 PE1 -NX_O75051 211104 1894 6.05 1 Cell membrane NA 1 PE1 -NX_O75052 56150 506 5.89 1 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_O75054 135196 1194 5.75 1 Nucleoplasm;Cytosol;Membrane Lacrimal duct defect 1 PE1 -NX_O75056 45497 442 4.61 1 Nucleoplasm;Mitochondrion;Membrane NA 1 PE1 -NX_O75061 99997 913 6.82 1 Nucleoplasm;Cytosol;Cell membrane Parkinson disease 19B, early-onset;Parkinson disease 19A, juvenile-onset 0 PE1 -NX_O75063 46432 409 6.4 1 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_O75064 163847 1496 6.85 1 Nucleus;Golgi apparatus NA 0 PE1 -NX_O75069 77449 709 6.34 1 Endoplasmic reticulum membrane NA 2 PE1 -NX_O75071 55031 495 5.98 1 Cytosol;Nucleolus;Golgi apparatus NA 0 PE1 -NX_O75072 53724 461 8.63 9 Cytoplasm;Nucleus;Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4;Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4;Cardiomyopathy, dilated 1X;Muscular dystrophy-dystroglycanopathy limb-girdle C4 1 PE1 -NX_O75074 82884 770 5.83 19 Coated pit;Membrane NA 1 PE1 -NX_O75077 91926 832 7.85 2 Cell membrane;Secreted NA 1 PE1 -NX_O75078 83418 769 6.91 17 Membrane NA 1 PE1 -NX_O75081 71192 653 8.5 16 Nucleoplasm;Nucleolus;Golgi apparatus membrane NA 0 PE1 -NX_O75083 66194 606 6.17 4 Cytoplasm;Cytoskeleton;Podosome;Cell junction;Cell membrane NA 0 PE1 -NX_O75084 63620 574 8.12 2 Nucleoplasm;Endosome membrane;Cell membrane NA 7 PE1 -NX_O75093 167926 1534 6.14 10 Cell membrane;Secreted NA 0 PE1 -NX_O75094 167713 1523 7.99 5 Cell junction;Secreted NA 0 PE1 -NX_O75095 161185 1541 5.94 1 Cytoplasm;Cytoskeleton;Secreted NA 0 PE1 -NX_O75096 212045 1905 5.06 11 Mitochondrion;Nucleolus;Nucleus;Cell membrane Cenani-Lenz syndactyly syndrome;Myasthenic syndrome, congenital, 17;Sclerosteosis 2 1 PE1 -NX_O75106 83673 756 6.54 17 Cytoplasm;Cell membrane NA 0 PE1 -NX_O75110 118583 1047 8.01 20 Recycling endosome;Early endosome membrane;trans-Golgi network membrane NA 10 PE1 -NX_O75112 77135 727 8.47 10 Pseudopodium;Cytosol;Focal adhesion;Nucleoplasm;Perinuclear region;Cytoskeleton;Z line Left ventricular non-compaction 3;Myopathy, myofibrillar, 4;Cardiomyopathy, dilated 1C, with or without left ventricular non-compaction 0 PE1 -NX_O75113 100379 896 5.24 16 PML body;Nucleolus NA 0 PE1 -NX_O75116 160900 1388 5.75 2 Cytosol;Cytoplasm;Nucleus;Centrosome;Cell membrane NA 0 PE1 -NX_O75121 45380 409 5.13 4 Cytoplasm;Nucleus;Cell membrane NA 1 PE1 -NX_O75122 141064 1294 8.62 3 Kinetochore;Cytoskeleton;Ruffle membrane;Golgi apparatus;Cytosol;Cell membrane;trans-Golgi network;Spindle;Centrosome NA 0 PE1 -NX_O75123 61392 536 8.52 8 Nucleus NA 0 PE1 -NX_O75127 78856 700 8.81 7 Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_O75128 135617 1261 7.66 7 Cytoplasm;Cytoskeleton;Ruffle;Cell junction;Cell membrane NA 0 PE1 -NX_O75129 148243 1339 5.66 9 Late endosome;Perikaryon;Nucleoplasm;Early endosome;Cell cortex;Cytoplasmic vesicle;Cytosol;Membrane;Clathrin-coated vesicle NA 2 PE1 -NX_O75131 60131 537 5.6 8 Nucleolus;Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Nucleus;Mitochondrion;Cell junction NA 0 PE1 -NX_O75132 130322 1171 6.38 22 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O75140 181264 1603 6.27 22 Cytosol;Perinuclear region;Lysosome membrane;Golgi apparatus Epilepsy, familial focal, with variable foci 1 0 PE1 -NX_O75143 56572 517 4.98 11 Cytosol;Nucleoplasm;Preautophagosomal structure;Cell membrane NA 0 PE1 -NX_O75144 33349 302 5.15 21 Cytosol;Cell membrane NA 1 PE1 -NX_O75145 133496 1194 5.53 19 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Acrosome NA 0 PE1 -NX_O75146 119388 1068 6.22 12 Cytosol;Cell membrane;Endomembrane system;Cytoplasmic vesicle;Perinuclear region;Clathrin-coated vesicle membrane NA 0 PE1 -NX_O75147 206947 1896 5.42 2 Cytoplasm;Perinuclear region;Centrosome;Golgi apparatus 3M syndrome 2 0 PE1 -NX_O75150 113678 1001 5.97 16 Nucleoplasm;Nucleus NA 0 PE1 -NX_O75151 120775 1096 9.25 9 Kinetochore;Nucleolus NA 0 PE1 -NX_O75152 89131 810 8.62 1 Nucleus speckle NA 0 PE1 -NX_O75153 146670 1309 5.75 17 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytoplasmic granule NA 0 PE1 -NX_O75154 82440 756 4.44 16 Cleavage furrow;Microtubule organizing center;Cytoplasmic vesicle;Centrosome;Cytoskeleton;Recycling endosome membrane;Midbody NA 0 PE1 -NX_O75155 135256 1236 5.44 3 Cytosol;Nucleus NA 0 PE1 -NX_O75157 79228 780 4.9 3 Cytosol NA 0 PE1 -NX_O75159 61246 536 8.87 2 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_O75161 157598 1426 8.4 1 Nucleus;Centrosome;Tight junction;Cilium basal body Nephronophthisis 4;Senior-Loken syndrome 4 0 PE1 -NX_O75164 120662 1064 5.61 1 Nucleolus;Nucleus NA 0 PE1 -NX_O75165 254415 2243 6.31 3 Cytosol;Cytoplasmic vesicle;Early endosome membrane;Endosome membrane;Early endosome Parkinson disease 0 PE1 -NX_O75167 69700 634 8.14 6 Membrane NA 0 PE1 -NX_O75170 104942 966 4.74 22 Cytosol;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_O75173 90197 837 8.18 1 Nucleus speckle;Extracellular matrix NA 0 PE1 -NX_O75175 81872 753 5.82 19 Cytosol;Cytoplasm;P-body;Nucleus NA 0 PE1 -NX_O75177 42990 396 5.96 20 Cytosol;Nucleoplasm;Kinetochore;Nucleus NA 0 PE1 -NX_O75179 274258 2603 6.07 4 Cytoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_O75182 133066 1162 6.48 19 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_O75185 103169 946 5.53 16 Focal adhesion;Cell membrane;Membrane NA 10 PE1 -NX_O75190 36087 326 9.17 7 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus;Z line Limb-girdle muscular dystrophy 1E 0 PE1 -NX_O75191 58382 536 5.55 3 Nucleus speckle NA 0 PE1 -NX_O75192 28353 247 9.68 15 Peroxisome membrane NA 2 PE1 -NX_O75197 179145 1615 5.11 11 Endoplasmic reticulum;Membrane Osteoporosis-pseudoglioma syndrome;Polycystic liver disease 4 with or without kidney cysts;Osteopetrosis, autosomal dominant 1;Vitreoretinopathy, exudative 1;Van Buchem disease 2;Vitreoretinopathy, exudative 4;High bone mass trait;Endosteal hyperostosis, Worth type;Osteoporosis 1 PE1 -NX_O75200 47714 414 10.35 16 Secreted NA 0 PE2 -NX_O75204 25842 238 6.23 2 Cytoplasm;Cell membrane Pheochromocytoma 3 PE1 -NX_O75208 35509 318 5.61 16 Mitochondrion;Cytosol Coenzyme Q10 deficiency, primary, 5 0 PE1 -NX_O75223 21008 188 5.07 7 Cytoplasm;Cell membrane NA 0 PE1 -NX_O75251 23564 213 10.02 19 Mitochondrion Mitochondrial complex I deficiency;Leigh syndrome 0 PE1 -NX_O75264 14964 130 5.25 19 Cytosol;Nucleoplasm;Membrane NA 1 PE1 -NX_O75290 74531 641 8.96 19 Nucleus NA 0 PE1 -NX_O75293 17818 160 4.33 19 Cytosol;Nucleoplasm NA 0 PE1 -NX_O75298 59264 545 5.19 19 Endoplasmic reticulum membrane;Nucleus speckle Spastic paraplegia 12, autosomal dominant 2 PE1 -NX_O75306 52546 463 7.21 1 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane Mitochondrial complex I deficiency 0 PE1 -NX_O75309 89923 829 4.82 16 Cell membrane NA 1 PE1 -NX_O75310 61038 529 9.06 4 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_O75311 53800 464 8.6 4 Dendrite;Synapse;Postsynaptic cell membrane;Cell membrane;Perikaryon NA 4 PE1 -NX_O75312 50925 459 4.66 11 Cytoplasmic vesicle;Nucleolus;Cajal body;Cytoplasm;Axon;Perinuclear region;Nucleus;Growth cone;Gem NA 0 PE1 -NX_O75317 42858 370 6.16 13 NA NA 0 PE1 -NX_O75319 43710 377 9.38 2 Nucleus speckle;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_O75323 33743 286 9.42 7 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA 0 PE1 -NX_O75324 9497 88 5.19 16 Cytosol;Mitochondrion outer membrane NA 1 PE1 -NX_O75325 78859 713 7.06 1 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_O75326 74824 666 7.57 15 Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_O75330 84100 724 5.68 5 Cytosol;Cell surface;Cytoskeleton;Centrosome;Cytoplasm NA 0 PE1 -NX_O75333 42341 385 9.33 11 Nucleus NA 0 PE2 -NX_O75334 143291 1257 5.8 12 Cytoplasm;Cell surface NA 0 PE1 -NX_O75335 134404 1185 6.28 1 Cytoplasm;Cell surface NA 0 PE1 -NX_O75339 132565 1184 8.76 15 Extracellular matrix Intervertebral disc disease 0 PE1 -NX_O75340 21868 191 5.16 5 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Cytosol;Cytoplasm;Endosome;Nucleus NA 0 PE1 -NX_O75342 80356 701 7.57 17 Cytosol;Cytoplasm Ichthyosis, congenital, autosomal recessive 2 0 PE1 -NX_O75343 70368 617 8.84 13 Cytoplasm NA 0 PE5 -NX_O75344 37214 327 6.48 7 Cytosol;Nucleus;Chromosome NA 0 PE1 -NX_O75346 57602 499 9.32 19 Nucleus NA 0 PE1 -NX_O75347 12855 108 5.25 5 Cytoplasm;Cytoskeleton;Nucleolus NA 0 PE1 -NX_O75348 13758 118 8.93 9 Nucleolus;Nucleus NA 0 PE1 -NX_O75351 49302 444 6.75 18 Cytoplasmic vesicle;Cytoskeleton;Prevacuolar compartment membrane;Late endosome membrane NA 0 PE1 -NX_O75352 26638 247 9.13 17 Mitochondrion;Endoplasmic reticulum;Membrane Congenital disorder of glycosylation 1F 7 PE1 -NX_O75354 53246 484 9.32 20 Golgi apparatus membrane;Golgi apparatus;Secreted NA 1 PE1 -NX_O75355 59105 529 5.98 3 Cytosol;Membrane NA 2 PE1 -NX_O75356 47517 428 5.92 14 Cytosol;Endoplasmic reticulum;Secreted NA 0 PE1 -NX_O75360 24984 226 10.36 5 Nucleus Pituitary hormone deficiency, combined, 2 0 PE1 -NX_O75362 115272 1048 8.78 20 Nucleus speckle;Nucleus NA 0 PE1 -NX_O75363 61709 584 4.99 20 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_O75364 31832 302 9.28 10 Nucleus Cataract 11, multiple types;Anterior segment dysgenesis 1 0 PE1 -NX_O75365 19535 173 9.35 8 Cell membrane;Early endosome NA 0 PE1 -NX_O75366 92027 819 5.47 12 Axon;Cytoskeleton;Cell projection NA 0 PE1 -NX_O75367 39617 372 9.8 5 Nucleus;Chromosome NA 0 PE1 -NX_O75368 12774 114 5.22 X Cytoplasmic vesicle NA 0 PE1 -NX_O75369 278164 2602 5.47 3 Stress fiber;Golgi apparatus;Cytosol;Cell cortex;Cell membrane;Cytoskeleton;Z line Boomerang dysplasia;Larsen syndrome;Atelosteogenesis 3;Spondylocarpotarsal synostosis syndrome;Atelosteogenesis 1 0 PE1 -NX_O75373 61931 536 9.41 19 Nucleus NA 0 PE1 -NX_O75376 270210 2440 6.66 17 Nucleus NA 0 PE1 -NX_O75379 16397 141 6.75 1 trans-Golgi network membrane;Golgi apparatus NA 1 PE1 -NX_O75380 13712 124 8.58 5 Mitochondrion inner membrane Mitochondrial complex I deficiency 0 PE1 -NX_O75381 41237 377 4.89 1 Peroxisome membrane;Nucleolus;Peroxisome Peroxisome biogenesis disorder 13A;Peroxisome biogenesis disorder complementation group K 0 PE1 -NX_O75382 80830 744 8.03 11 Mitochondrion;Cytoplasm;Dendrite;trans-Golgi network;Early endosome NA 0 PE1 -NX_O75385 112631 1050 9.03 12 Cytosol;Preautophagosomal structure NA 0 PE1 -NX_O75386 49642 442 7.63 12 Nucleolus;Secreted;Cytoplasm;Cell membrane;Nucleus;Cilium NA 0 PE1 -NX_O75387 61477 559 7.85 11 Cytoplasmic vesicle;Cell membrane;Golgi apparatus;Membrane NA 12 PE1 -NX_O75388 40087 356 9.35 19 Cell membrane NA 7 PE2 -NX_O75390 51712 466 8.45 12 Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_O75391 26034 227 7.69 17 Nucleus NA 0 PE1 -NX_O75394 7619 65 10.81 2 Mitochondrion NA 0 PE1 -NX_O75396 24593 215 6.43 1 Endoplasmic reticulum membrane;cis-Golgi network membrane;trans-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Melanosome NA 1 PE1 -NX_O75398 59327 565 5.21 11 Cytoplasm;Nucleolus;Nucleus;Secreted Dyskinesia, seizures, and intellectual developmental disorder;Mental retardation, autosomal dominant 24 0 PE1 -NX_O75400 108805 957 7.18 2 Nucleus matrix;Nucleus;Nucleus speckle NA 0 PE1 -NX_O75409 13442 117 4.93 X NA NA 0 PE1 -NX_O75410 87794 805 4.82 8 Cytoplasm;Nucleus;Centrosome;Midbody;Membrane NA 0 PE1 -NX_O75414 21142 186 8.51 3 Cytoplasmic vesicle NA 0 PE1 -NX_O75417 289619 2590 7.07 3 Cytosol;Nucleus;Golgi apparatus;Chromosome Breast cancer 0 PE1 -NX_O75419 65569 566 5.31 22 Cytosol;Cytoplasm;Nucleus;Centrosome;Nucleoplasm Meier-Gorlin syndrome 7 0 PE1 -NX_O75420 114601 1035 5.29 7 Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 -NX_O75425 25519 235 9.29 7 Cytosol;Nucleoplasm;Membrane NA 2 PE1 -NX_O75426 64889 580 9.01 7 NA NA 0 PE1 -NX_O75427 73450 683 8.55 7 Cytosol;Nucleoplasm;Focal adhesion NA 0 PE1 -NX_O75431 29763 263 5.9 2 Mitochondrion;Nucleolus;Mitochondrion outer membrane NA 0 PE1 -NX_O75436 38170 327 6.13 10 Endosome;Golgi apparatus;Lysosome;Cytoplasm;Cell membrane;Endosome membrane;Early endosome NA 0 PE1 -NX_O75437 77160 659 9.4 19 Nucleus NA 0 PE1 -NX_O75438 6961 58 9.03 14 Mitochondrion;Cytoplasm;Mitochondrion inner membrane;Nucleus speckle NA 1 PE1 -NX_O75439 54366 489 6.38 7 Mitochondrion matrix;Mitochondrion Multiple mitochondrial dysfunctions syndrome 6 0 PE1 -NX_O75443 239527 2155 5.23 11 Cell membrane;Extracellular matrix Deafness, autosomal recessive, 21;Deafness, autosomal dominant, 12 0 PE1 -NX_O75444 38492 373 6.44 16 Nucleus Ayme-Gripp syndrome;Cataract 21, multiple types 0 PE1 -NX_O75445 575600 5202 6.4 1 Secreted;Stereocilium membrane Usher syndrome 2A;Retinitis pigmentosa 39 1 PE1 -NX_O75446 23306 220 9.28 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_O75448 110305 989 6.51 17 Nucleus NA 0 PE1 -NX_O75449 55965 491 6.47 6 Cytoplasm;Cell membrane;Centrosome;Midbody;Nucleus;Spindle;Microtubule organizing center;Spindle pole NA 0 PE1 -NX_O75452 35673 317 8.83 12 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_O75459 16150 146 4.15 X Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_O75460 109735 977 5.98 17 Endoplasmic reticulum membrane NA 1 PE1 -NX_O75461 31844 281 5.35 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_O75462 46302 422 9.3 19 Secreted Crisponi/Cold-induced sweating syndrome 1 0 PE1 -NX_O75467 61104 553 9.69 19 Cytosol;Nucleus;Nucleus membrane NA 0 PE1 -NX_O75469 49762 434 8.7 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_O75473 99998 907 6.12 12 trans-Golgi network membrane;Cell membrane NA 7 PE1 -NX_O75474 24051 233 5.4 10 Mitochondrion;Nucleus NA 0 PE1 -NX_O75475 60103 530 9.15 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_O75477 38926 346 7.67 10 Endoplasmic reticulum membrane;Endoplasmic reticulum Spastic paraplegia 62, autosomal recessive 1 PE1 -NX_O75478 51506 443 6.45 17 Nucleus speckle;Nucleus;Chromosome NA 0 PE1 -NX_O75486 35793 317 6.41 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_O75487 62412 556 6.26 X Cytoplasmic vesicle;Extracellular space;Cell membrane NA 0 PE1 -NX_O75489 30242 264 6.98 11 Mitochondrion;Mitochondrion inner membrane;Nucleus NA 0 PE1 -NX_O75493 36238 328 9.78 19 Cytoplasmic vesicle;Cytoskeleton;Secreted NA 0 PE1 -NX_O75494 31301 262 11.26 1 Nucleoplasm;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_O75496 23565 209 4.93 6 Nucleoplasm;Cytoplasm;Nucleus Meier-Gorlin syndrome 6 0 PE1 -NX_O75503 41497 358 7.04 13 Lysosome;Membrane Ceroid lipofuscinosis, neuronal, 5 1 PE1 -NX_O75506 8544 76 4.17 16 Nucleus NA 0 PE1 -NX_O75508 21993 207 8.22 3 Tight junction;Cell membrane NA 4 PE1 -NX_O75509 71845 655 8.09 6 Cell membrane NA 1 PE1 -NX_O75521 43585 394 9.13 6 Mitochondrion;Peroxisome matrix;Peroxisome NA 0 PE1 -NX_O75525 38800 346 7.04 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_O75526 42814 392 10.33 11 Nucleus NA 0 PE1 -NX_O75528 48902 432 5.9 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O75529 66155 589 5.55 1 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_O75530 50198 441 6.57 11 Nucleoplasm;Nucleus;Chromosome Cohen-Gibson syndrome 0 PE1 -NX_O75531 10059 89 5.81 11 Cytosol;Cytoplasm;Nucleus envelope;Nucleoplasm;Nucleus;Chromosome Nestor-Guillermo progeria syndrome 0 PE1 -NX_O75533 145830 1304 6.65 2 Nucleus speckle;Nucleus NA 0 PE1 -NX_O75534 88885 798 5.88 1 Cytosol;Cytoplasm NA 0 PE1 -NX_O75541 46794 412 6.14 16 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_O75553 63775 588 4.88 1 Cytoplasmic vesicle Spinocerebellar ataxia 37 0 PE1 -NX_O75554 42507 376 5.45 13 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cell membrane;Nucleus speckle NA 0 PE1 -NX_O75556 10884 95 5.48 11 Secreted NA 0 PE1 -NX_O75558 33196 287 6.11 6 Mitochondrion;trans-Golgi network membrane;Nucleus;Membrane Familial hemophagocytic lymphohistiocytosis 4 0 PE1 -NX_O75563 41217 359 4.54 7 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_O75564 61815 556 8.18 8 Nucleolus;Nucleus NA 0 PE1 -NX_O75569 34404 313 8.68 2 Cytosol;Cytoplasm;Perinuclear region;Nucleoplasm Dystonia 16 0 PE1 -NX_O75570 52306 445 8.75 13 Mitochondrion NA 0 PE1 -NX_O75575 16871 148 5.29 7 Nucleus;Cell membrane NA 0 PE1 -NX_O75578 127602 1167 6.21 1 Membrane NA 1 PE1 -NX_O75581 180429 1613 5.12 12 Cell membrane;Membrane raft;Endoplasmic reticulum Tooth agenesis, selective, 7;Coronary artery disease, autosomal dominant, 2 1 PE1 -NX_O75582 89865 802 6.63 14 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O75586 28425 246 8.71 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_O75592 513636 4678 6.61 13 Cytoplasmic vesicle;Axon;Cytoskeleton;Nucleus NA 0 PE1 -NX_O75593 39257 365 9.6 8 Nucleus NA 0 PE1 -NX_O75594 21731 196 8.92 19 Cytoplasmic granule;Secreted NA 0 PE1 -NX_O75596 22233 197 9.07 16 Secreted NA 0 PE1 -NX_O75600 45285 419 8.3 22 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_O75602 55476 509 6.37 10 Cytoplasm;Cytoskeleton;Flagellum NA 0 PE1 -NX_O75603 56610 506 7.14 6 Nucleus Hypoparathyroidism, familial isolated;Hyperparathyroidism 4 0 PE1 -NX_O75604 68072 605 9.15 11 Cytosol;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Membrane NA 0 PE1 -NX_O75607 19344 178 4.55 10 Cytosol;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_O75608 24670 230 6.29 8 Cytoplasm NA 0 PE1 -NX_O75610 40880 366 8.6 1 Secreted NA 0 PE1 -NX_O75616 48350 437 9.05 17 Mitochondrion matrix;Cytosol;Mitochondrion;Mitochondrion inner membrane Perrault syndrome 6 0 PE1 -NX_O75618 36794 318 9.07 1 Nucleoplasm;Cytoplasm;Nucleolus NA 0 PE1 -NX_O75626 91771 825 8.76 6 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_O75628 32947 298 9.02 20 NA NA 0 PE1 -NX_O75629 24075 220 7.06 1 Cytoplasmic vesicle;Cytoskeleton;Secreted NA 0 PE1 -NX_O75631 30670 287 4.69 22 Endoplasmic reticulum membrane;Nucleus;Nucleus membrane NA 1 PE1 -NX_O75635 42905 380 6.34 18 Mitochondrion;Cytoplasm;Endoplasmic reticulum Keratoderma, palmoplantar, Nagashima type 0 PE1 -NX_O75636 32903 299 6.2 1 Secreted Ficolin 3 deficiency 0 PE1 -NX_O75638 21090 210 10.02 X Centrosome NA 0 PE1 -NX_O75643 244508 2136 5.73 2 Nucleoplasm;Nucleus Retinitis pigmentosa 33 0 PE1 -NX_O75648 47745 421 8.24 22 Mitochondrion;Nucleoplasm Deafness, aminoglycoside-induced;Liver failure, infantile, transient 0 PE1 -NX_O75663 31444 272 5.6 1 Cytosol;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_O75665 116671 1012 5.82 X Centriole;Cytoskeleton;Nucleus;Centriolar satellite;Cilium basal body Retinitis pigmentosa 23;Joubert syndrome 10;Orofaciodigital syndrome 1;Simpson-Golabi-Behmel syndrome 2 0 PE1 -NX_O75674 52989 476 5.11 17 Endosome membrane;Cytoplasm;Golgi stack;Membrane NA 0 PE1 -NX_O75676 85606 772 8.51 11 Cytosol;Nucleus NA 0 PE1 -NX_O75677 35491 317 7.49 22 Cytoplasm;Nucleus NA 0 PE1 -NX_O75678 42077 378 8.08 22 NA NA 0 PE2 -NX_O75679 35386 317 7.43 22 Cytoplasm;Nucleus NA 0 PE1 -NX_O75683 41450 361 10.65 9 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_O75688 52643 479 4.95 2 Cytosol;Nucleolus;Membrane NA 0 PE1 -NX_O75689 43395 374 9.1 7 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_O75690 17519 187 8.24 11 NA NA 0 PE2 -NX_O75691 318385 2785 7.07 12 Nucleolus;Cell membrane NA 0 PE1 -NX_O75694 155199 1391 5.78 5 Nuclear pore complex;Nucleus membrane Atrial fibrillation, familial, 15 0 PE1 -NX_O75695 39641 350 5 X Nucleoplasm;Nucleus;Cilium;Cell membrane Retinitis pigmentosa 2 0 PE1 -NX_O75711 11081 98 6.23 4 Secreted NA 0 PE1 -NX_O75712 30818 270 8.94 1 Cytoplasmic vesicle;Gap junction;Cell junction;Cell membrane Deafness, autosomal dominant, 2B;Erythrokeratodermia variabilis et progressiva 1 4 PE1 -NX_O75715 25202 221 8.83 6 Secreted NA 0 PE1 -NX_O75716 34656 305 6.42 2 Cytosol;Perinuclear region;Membrane NA 0 PE1 -NX_O75717 125967 1129 5.42 14 Nucleoplasm NA 0 PE1 -NX_O75718 46562 401 5.5 3 Cytosol;Cytoskeleton;Extracellular matrix Osteogenesis imperfecta 7 0 PE1 -NX_O75746 74762 678 8.57 2 Cytosol;Nucleus speckle;Mitochondrion inner membrane Epileptic encephalopathy, early infantile, 39 6 PE1 -NX_O75747 165715 1445 6.46 12 Membrane NA 0 PE1 -NX_O75751 61280 556 8.92 6 Cytosol;Cytoplasmic vesicle;Nucleoplasm;Membrane NA 7 PE1 -NX_O75752 39512 331 7.67 3 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 -NX_O75762 127501 1119 6.69 8 Cell membrane Episodic pain syndrome, familial, 1 6 PE1 -NX_O75764 38972 348 9.32 1 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_O75771 35049 328 5.89 17 Nucleus;Centrosome;Telomere Breast-ovarian cancer, familial, 4 0 PE1 -NX_O75781 42076 387 4.94 19 Basolateral cell membrane;Apicolateral cell membrane;Cell membrane;Axon;Dendrite;Nucleus;Dendritic spine;Filopodium membrane NA 0 PE1 -NX_O75783 48314 438 8.04 16 Nucleoplasm;Membrane NA 7 PE1 -NX_O75787 39008 350 5.76 X Membrane Parkinsonism with spasticity, X-linked;Mental retardation, X-linked, with epilepsy 1 PE1 -NX_O75791 37909 330 6.44 22 Cytoplasm;Endosome;Nucleus NA 0 PE1 -NX_O75792 33395 299 5.14 19 Cytosol;Nucleus Aicardi-Goutieres syndrome 4 0 PE1 -NX_O75794 39135 336 4.64 10 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_O75795 61095 530 8.76 4 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_O75800 50344 440 5.81 3 Cytosol;Cytoplasm;Centriolar satellite;Apical cell membrane;Cell membrane Ciliary dyskinesia, primary, 22 0 PE1 -NX_O75807 73478 674 4.55 19 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Mitochondrion outer membrane NA 0 PE1 -NX_O75808 117314 1086 6.27 16 Nucleus NA 0 PE1 -NX_O75815 92566 825 8.19 1 Cytosol;Centrosome;Cell membrane NA 0 PE1 -NX_O75817 15651 140 9.09 7 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Cytoplasmic granule NA 0 PE1 -NX_O75818 41834 363 6.21 6 Nucleoplasm;Nucleolus NA 0 PE1 -NX_O75820 72976 626 8.85 9 Cytoskeleton;Nucleus NA 0 PE1 -NX_O75821 35611 320 5.87 19 Cytosol;Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 -NX_O75822 29062 258 4.72 15 Cytosol;Cytoplasm NA 0 PE1 -NX_O75828 30850 277 5.82 21 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_O75829 37102 334 7.5 13 Extracellular matrix;Endomembrane system NA 1 PE1 -NX_O75830 46145 405 5.08 3 Secreted NA 0 PE1 -NX_O75832 24428 226 5.71 X Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_O75838 21644 187 4.48 15 Photoreceptor inner segment;Cytoplasm;Stereocilium;Photoreceptor outer segment;Sarcolemma Usher syndrome 1J;Deafness, autosomal recessive, 48 0 PE1 -NX_O75840 33362 302 8.19 2 Nucleus;Golgi apparatus NA 0 PE1 -NX_O75841 29643 260 5.16 3 Membrane NA 4 PE1 -NX_O75843 87117 785 6.09 14 Endosome membrane;Cytoplasmic vesicle membrane;Golgi apparatus membrane NA 0 PE1 -NX_O75844 54813 475 7.11 1 Endoplasmic reticulum membrane;Cytosol;Nucleus inner membrane;Golgi apparatus Mandibuloacral dysplasia with type B lipodystrophy;Lethal tight skin contracture syndrome 7 PE1 -NX_O75845 35301 299 7.85 11 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum;Cell membrane Lathosterolosis 4 PE1 -NX_O75864 74767 691 4.97 19 Cytosol NA 0 PE1 -NX_O75865 17605 159 5.14 19 Endoplasmic reticulum;cis-Golgi network;Golgi apparatus NA 0 PE1 -NX_O75871 25909 244 6.03 19 Membrane NA 1 PE1 -NX_O75874 46659 414 6.53 2 Cytosol;Cytoplasm;Nucleus;Peroxisome Glioma 0 PE1 -NX_O75879 61864 557 8.85 4 Mitochondrion NA 0 PE1 -NX_O75880 33814 301 9.01 17 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex IV deficiency 1 PE1 -NX_O75881 58256 506 8.2 8 Endoplasmic reticulum membrane;Microsome membrane Spastic paraplegia 5A, autosomal recessive;Congenital bile acid synthesis defect 3 0 PE1 -NX_O75882 158537 1429 7.24 20 Cytosol;Cell membrane;Secreted NA 1 PE1 -NX_O75884 21000 186 5.79 20 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O75886 58164 525 4.94 2 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Early endosome membrane;Cytosol NA 0 PE1 -NX_O75888 27433 250 9.67 17 Secreted NA 0 PE1 -NX_O75891 98829 902 5.63 3 Cytosol;Cytoplasm NA 0 PE1 -NX_O75896 12074 110 9.69 3 Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_O75897 35520 302 8.22 2 Cytosol;Cytoplasm NA 0 PE1 -NX_O75899 105821 941 8.89 9 Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, early infantile, 59;Neurodevelopmental disorder with poor language and loss of hand skills 7 PE1 -NX_O75900 43935 390 9.94 1 Endoplasmic reticulum membrane;Membrane NA 1 PE1 -NX_O75901 50021 435 5.2 12 Endosome NA 0 PE1 -NX_O75907 55278 488 9.41 8 Endoplasmic reticulum membrane;Nucleolus;Endoplasmic reticulum Diarrhea 7 3 PE1 -NX_O75908 59896 522 8.96 12 Endoplasmic reticulum membrane NA 5 PE1 -NX_O75909 64240 580 8.6 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_O75911 33548 302 9.07 1 Mitochondrion;Nucleolus;Membrane NA 4 PE1 -NX_O75912 116997 1065 7.98 7 Cytoplasm;Nucleus NA 0 PE1 -NX_O75914 62310 559 5.33 X Cytosol;Cytoplasm Mental retardation, X-linked 30 0 PE1 -NX_O75915 21615 188 9.77 3 Endoplasmic reticulum membrane;Cytoplasm;Cytoskeleton;Cell membrane;Endoplasmic reticulum NA 4 PE1 -NX_O75916 76966 674 9.42 17 Nucleoplasm;Membrane Prolonged electroretinal response suppression 0 PE1 -NX_O75920 12349 110 9.79 5 Nucleus NA 0 PE2 -NX_O75923 237295 2080 5.44 2 Cytoplasmic vesicle membrane;Sarcolemma;Cell membrane;Microtubule organizing center Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy 2B;Distal myopathy with anterior tibial onset 1 PE1 -NX_O75925 71836 651 6.9 15 Nucleus speckle;Cytoskeleton;PML body NA 0 PE1 -NX_O75928 68240 621 7.47 18 Nucleoplasm;Nucleus speckle;Nucleus;PML body NA 0 PE1 -NX_O75934 26131 225 5.48 1 Nucleus speckle;Nucleolus;Centrosome NA 0 PE1 -NX_O75935 21119 186 5.37 9 Kinetochore;Nucleolus;Cleavage furrow;Cytosol;Cytoplasm;Centrosome;Spindle;Midbody NA 0 PE1 -NX_O75936 44715 387 6.28 11 Cytoplasm NA 0 PE1 -NX_O75937 29842 253 9.04 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_O75940 26711 238 6.78 10 Nucleus speckle;Nucleus;Cajal body NA 0 PE1 -NX_O75943 77055 681 6.63 5 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O75947 18491 161 5.21 17 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane NA 0 PE1 -NX_O75949 52605 473 8.29 X Membrane NA 2 PE2 -NX_O75951 16956 148 5.73 17 Cell surface;Flagellum;Secreted NA 0 PE1 -NX_O75952 52774 493 4.51 18 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Flagellum NA 0 PE1 -NX_O75953 39133 348 9.12 9 Cytosol;Nucleus NA 0 PE1 -NX_O75954 26779 239 7.89 12 Cytosol;Nucleoplasm;Golgi apparatus;Membrane NA 4 PE1 -NX_O75955 47355 427 7.08 6 Endosome;Melanosome;Golgi apparatus;Cell membrane;Cytoplasmic vesicle;Caveola;Membrane raft NA 0 PE1 -NX_O75956 13101 126 9.51 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O75962 346900 3097 5.94 5 Cytoplasmic vesicle;Cytoplasm;Cytosol Mental retardation, autosomal dominant 44 0 PE1 -NX_O75964 11428 103 9.65 11 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_O75969 94751 853 5.84 12 Acrosome NA 0 PE1 -NX_O75970 221618 2070 4.95 9 Synaptosome;Synapse;Apical cell membrane;Cell membrane;Dendrite;Postsynaptic density;Tight junction Hydrocephalus, congenital, 2, with or without brain or eye anomalies 0 PE1 -NX_O75971 11328 98 4.55 15 Nucleus NA 0 PE1 -NX_O75973 26453 258 5.32 17 Secreted NA 0 PE1 -NX_O75976 152931 1380 5.68 17 Nucleoplasm;Nucleus speckle;Cell membrane;Nucleus membrane NA 1 PE1 -NX_O75995 41595 380 5.17 X Cell membrane NA 0 PE1 -NX_O76000 35543 313 8.77 6 Cell membrane NA 7 PE3 -NX_O76001 34950 311 7.6 6 Cell membrane NA 7 PE1 -NX_O76002 35204 312 8.5 6 Cell membrane NA 7 PE2 -NX_O76003 37432 335 5.31 10 Cytosol;Cell cortex;Z line NA 0 PE1 -NX_O76009 45940 404 4.78 17 NA NA 0 PE1 -NX_O76011 49424 436 5.01 17 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_O76013 52247 467 4.9 17 NA NA 0 PE1 -NX_O76014 49747 449 4.9 17 NA NA 0 PE1 -NX_O76015 50480 456 4.79 17 NA NA 0 PE1 -NX_O76021 54973 490 10.13 16 Nucleolus NA 0 PE1 -NX_O76024 100292 890 8.34 4 Endoplasmic reticulum membrane Cataract 41;Wolfram-like syndrome autosomal dominant;Wolfram syndrome 1;Deafness, autosomal dominant, 6 11 PE1 -NX_O76027 38364 345 5.53 1 Cytosol;Nucleus speckle NA 0 PE1 -NX_O76031 69224 633 7.51 15 Mitochondrion nucleoid;Mitochondrion Protoporphyria, erythropoietic, 2 0 PE1 -NX_O76036 34481 304 7.63 19 Cell membrane;Endoplasmic reticulum NA 1 PE1 -NX_O76038 32040 276 5.25 6 Cytoplasm;Secretory vesicle membrane;Secreted NA 0 PE1 -NX_O76039 115538 1030 9.58 X Nucleoplasm;Nucleus;Centrosome;Cilium basal body Epileptic encephalopathy, early infantile, 2 0 PE1 -NX_O76041 116453 1014 7.89 10 Cytoplasm NA 0 PE1 -NX_O76042 14968 136 8.57 3 NA NA 0 PE5 -NX_O76050 61860 574 8.89 10 Postsynaptic density;Perinuclear region;Perikaryon;Cell membrane;Dendrite NA 0 PE1 -NX_O76054 46145 403 7.95 22 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_O76061 33249 302 6.93 5 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_O76062 46406 418 9.05 11 Endoplasmic reticulum membrane;Microsome membrane;Cytoplasmic vesicle;Endoplasmic reticulum NA 7 PE1 -NX_O76064 55518 485 7.08 6 Cytosol;Cytoplasm;Nucleus;Midbody;Telomere NA 0 PE1 -NX_O76070 13331 127 4.89 10 Spindle;Perinuclear region;Centrosome NA 0 PE1 -NX_O76071 37840 339 4.81 2 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_O76074 99985 875 5.74 4 Cytosol NA 0 PE1 -NX_O76075 39110 338 9.2 1 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_O76076 26825 250 8.32 20 Secreted NA 0 PE1 -NX_O76080 23132 213 8.86 9 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_O76081 43692 388 6.48 8 Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_O76082 62752 557 8.07 5 Mitochondrion;Membrane Systemic primary carnitine deficiency 12 PE1 -NX_O76083 68493 593 5.85 21 Sarcolemma;Golgi apparatus;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Perinuclear region;Ruffle membrane NA 0 PE1 -NX_O76087 12978 117 4.3 X NA NA 0 PE2 -NX_O76090 67684 585 6.43 11 Basolateral cell membrane;Cell membrane Bestrophinopathy, autosomal recessive;Macular dystrophy, vitelliform, 2;Retinitis pigmentosa 50;Vitreoretinochoroidopathy, autosomal dominant 4 PE1 -NX_O76093 23989 207 9.86 5 Secreted NA 0 PE1 -NX_O76094 74606 671 9.31 4 Cytoplasm;Endoplasmic reticulum Bone marrow failure syndrome 1 0 PE1 -NX_O76095 16358 146 8.67 1 Cytoplasm;Cytoplasmic vesicle;Spindle;Membrane;Mitochondrion;Cytoskeleton;Centrosome NA 1 PE1 -NX_O76096 16454 145 8.82 20 Cytoplasm;Secreted NA 0 PE1 -NX_O76099 35519 320 7.55 19 Cell membrane NA 7 PE2 -NX_O76100 34406 309 8.02 19 Cell membrane NA 7 PE3 -NX_O77932 44929 396 7.6 6 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_O94759 171198 1503 7.27 21 Perikaryon;Nucleus membrane;Lysosome;Cell membrane;Cytoplasmic vesicle;Cell projection NA 6 PE1 -NX_O94760 31122 285 5.53 1 Cytosol;Nucleolus;Cell membrane NA 0 PE1 -NX_O94761 133067 1208 8.45 8 Cytoplasm;Nucleus Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 0 PE1 -NX_O94762 108858 991 8.86 17 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_O94763 59832 535 4.92 19 Nucleoplasm;Cytosol;Cytoplasm;Dendrite;Nucleus;Mitochondrion NA 0 PE1 -NX_O94766 37122 335 8.4 11 Golgi apparatus membrane;cis-Golgi network Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 1 PE1 -NX_O94768 42344 372 5.13 2 Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;Nucleus;Cell membrane NA 0 PE1 -NX_O94769 79789 699 5.3 9 Extracellular matrix NA 0 PE1 -NX_O94772 14669 140 6.91 8 Cell membrane NA 0 PE1 -NX_O94776 75023 668 9.7 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_O94777 9312 84 9.82 9 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1U 2 PE1 -NX_O94778 27381 261 6.41 16 Membrane NA 6 PE2 -NX_O94779 120686 1100 5.99 11 Cytosol;Cell membrane NA 0 PE1 -NX_O94782 88207 785 5.37 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_O94788 56724 518 5.79 15 Cytoplasm NA 0 PE1 -NX_O94804 112135 968 6.52 5 Cell membrane Testicular germ cell tumor 0 PE1 -NX_O94805 46877 426 5.48 7 Nucleolus;Nucleus NA 0 PE1 -NX_O94806 100471 890 6.42 2 Cytosol;Cytoplasm;Nucleoplasm;Membrane NA 0 PE1 -NX_O94808 76931 682 7.03 5 Cytoplasmic vesicle NA 0 PE1 -NX_O94810 52946 467 8.99 16 NA NA 0 PE1 -NX_O94811 23694 219 9.48 5 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Mitochondrion NA 0 PE1 -NX_O94812 131901 1187 5.95 16 Cytosol;Recycling endosome membrane;Late endosome membrane;trans-Golgi network membrane;Cell membrane NA 0 PE1 -NX_O94813 169870 1529 6.8 4 Secreted NA 0 PE1 -NX_O94817 15113 140 5.01 5 Cytoplasm;Preautophagosomal structure membrane NA 0 PE1 -NX_O94818 71357 638 5.42 18 Nucleolus;Nucleus NA 0 PE1 -NX_O94819 65720 623 5.78 8 Cytoskeleton NA 0 PE1 -NX_O94822 200552 1766 5.89 21 Cytosol NA 0 PE1 -NX_O94823 165391 1461 6.46 5 Endoplasmic reticulum membrane;Cytoplasmic vesicle membrane NA 10 PE1 -NX_O94826 67455 608 6.75 3 Mitochondrion;Cell membrane;Mitochondrion outer membrane NA 1 PE1 -NX_O94827 117451 1062 5.93 1 Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Lamellipodium;Cell junction Charcot-Marie-Tooth disease, recessive, intermediate type, C;Distal spinal muscular atrophy, autosomal recessive, 4 0 PE1 -NX_O94829 108195 963 5.15 1 Cytoplasm;Nucleus NA 0 PE1 -NX_O94830 81032 711 5.23 8 Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;cis-Golgi network;Microtubule organizing center Spastic paraplegia 54, autosomal recessive 0 PE1 -NX_O94832 116202 1006 9.44 17 Cytosol NA 0 PE1 -NX_O94842 66195 621 4.92 14 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 -NX_O94844 79417 696 6.42 10 Cytosol;Nucleoplasm NA 0 PE1 -NX_O94850 75996 711 10.18 12 Endoplasmic reticulum membrane;Dendritic spine membrane;Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Perikaryon NA 0 PE1 -NX_O94851 126689 1124 8.9 11 Nucleus;Golgi apparatus NA 0 PE1 -NX_O94854 135148 1291 4.14 1 Cytoskeleton;Cell junction;Cell membrane NA 0 PE1 -NX_O94855 113010 1032 6.91 4 Cytoplasmic vesicle;Cytosol;COPII-coated vesicle membrane;Endoplasmic reticulum membrane Cole-Carpenter syndrome 2 0 PE1 -NX_O94856 150027 1347 6.24 1 Cell membrane NA 1 PE1 -NX_O94864 46193 414 5.01 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_O94868 84276 740 5.55 11 Nucleus speckle;Cytoskeleton;Focal adhesion;Cell membrane NA 0 PE1 -NX_O94874 89595 794 6.35 6 Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_O94875 124108 1100 8.56 4 Nucleoplasm;Lamellipodium;Focal adhesion;Apical cell membrane;Perinuclear region NA 0 PE1 -NX_O94876 72083 653 6.12 3 Endoplasmic reticulum membrane NA 2 PE1 -NX_O94880 100053 888 5.22 7 Cytosol;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_O94885 136653 1247 5.78 6 Cytosol;Nucleoplasm NA 0 PE1 -NX_O94886 92126 807 6.98 1 Cytoplasmic vesicle;Lysosome membrane;Microtubule organizing center NA 10 PE1 -NX_O94887 119888 1054 8.96 2 Cytosol NA 0 PE1 -NX_O94888 54862 489 5.06 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_O94889 63638 574 5.36 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O94892 74836 652 9.04 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_O94898 118965 1065 5.35 1 Cytoplasm;Nucleus;Cell membrane;Golgi apparatus Urofacial syndrome 2 1 PE1 -NX_O94900 57513 526 6.85 8 Nucleolus;Nucleus NA 0 PE1 -NX_O94901 90064 812 6.61 7 Cytoplasm;Nucleus inner membrane;Nucleus membrane NA 1 PE1 -NX_O94903 30344 275 7.09 8 Cytosol;Cytoplasm;Nucleus Epilepsy, early-onset, vitamin B6-dependent 0 PE1 -NX_O94905 37840 339 5.47 8 Endoplasmic reticulum membrane;Endoplasmic reticulum Spastic paraplegia 18, autosomal recessive 1 PE1 -NX_O94906 106925 941 8.49 20 Nucleoplasm;Nucleus speckle Retinitis pigmentosa 60 0 PE1 -NX_O94907 28672 266 8.8 10 Secreted NA 0 PE1 -NX_O94910 162717 1474 6.17 19 Synaptosome;Synapse;Cell membrane;Axon;Presynaptic cell membrane;Growth cone NA 7 PE1 -NX_O94911 179245 1581 6.81 17 Cytosol;Nucleoplasm;Cell membrane NA 14 PE1 -NX_O94913 173050 1555 8.65 11 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_O94915 339598 3013 5.36 4 Cytosol;Cytoskeleton NA 0 PE1 -NX_O94916 165763 1531 5.12 16 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_O94919 55017 500 5.55 11 Nucleus membrane;Secreted NA 0 PE1 -NX_O94921 53057 469 9.06 7 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_O94923 70101 617 9.04 15 Mitochondrion;Golgi apparatus membrane NA 1 PE1 -NX_O94925 73461 669 7.85 2 Mitochondrion;Cytosol NA 0 PE1 -NX_O94927 71682 633 8.83 19 Spindle;Centrosome NA 0 PE1 -NX_O94929 77802 683 8.86 5 Nucleoplasm;Cytoplasm;Cell junction;Cell membrane NA 0 PE1 -NX_O94933 108934 977 7.03 3 Mitochondrion;Membrane NA 1 PE1 -NX_O94941 58966 541 7.53 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_O94952 72270 628 5.73 12 Mitochondrion NA 0 PE1 -NX_O94953 121897 1096 6.72 19 Cytosol;Nucleus NA 0 PE1 -NX_O94955 69413 611 7.72 5 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_O94956 76711 709 8.7 11 Cell membrane NA 12 PE1 -NX_O94964 159760 1423 6.08 20 Cytosol;Nucleolus;Secreted NA 0 PE1 -NX_O94966 145651 1318 5.89 3 Endoplasmic reticulum membrane NA 1 PE1 -NX_O94967 101949 919 5.59 1 Cytoskeleton NA 0 PE1 -NX_O94972 107906 964 5.04 17 Perinuclear region;Peroxisome Mulibrey nanism 0 PE1 -NX_O94973 103960 939 6.53 11 Nucleoplasm;Cytoplasmic vesicle;Coated pit;Cell membrane NA 0 PE1 -NX_O94979 133015 1220 6.43 4 Endoplasmic reticulum membrane;Cytoplasm;COPII-coated vesicle membrane;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_O94983 131530 1202 6.92 17 Mitochondrion;Cytoskeleton;Nucleus NA 0 PE1 -NX_O94985 109793 981 4.81 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Postsynaptic cell membrane;Nucleus;Cell projection NA 1 PE1 -NX_O94986 195626 1710 5.45 15 Centriole;Centrosome Microcephaly 9, primary, autosomal recessive;Seckel syndrome 5 0 PE1 -NX_O94988 116932 1023 6.07 4 Cytosol;Nucleolus;Cell junction NA 0 PE1 -NX_O94989 91940 841 8.61 17 Dendrite;Cell membrane NA 0 PE1 -NX_O94991 107486 958 6.48 13 Nucleoplasm;Golgi apparatus;Membrane NA 1 PE1 -NX_O94992 40623 359 4.84 17 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_O94993 81854 753 6.92 5 Nucleus NA 0 PE1 -NX_O95006 35294 317 8.66 7 Cell membrane NA 7 PE2 -NX_O95007 35299 311 8.82 7 Cell membrane NA 7 PE2 -NX_O95013 35094 312 9.03 8 Cell membrane NA 7 PE3 -NX_O95025 89651 777 7.94 7 Golgi apparatus;Cell membrane;Secreted NA 0 PE1 -NX_O95045 35527 317 6.21 2 Mitochondrion;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_O95047 34802 310 9.18 6 Cell membrane NA 7 PE2 -NX_O95049 101397 919 6.29 19 Nucleoplasm;Nucleus;Tight junction;Cell membrane;Cell junction NA 0 PE1 -NX_O95050 28891 263 5.15 7 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_O95057 22329 198 8.94 19 Cell membrane NA 0 PE1 -NX_O95059 13693 124 7.62 3 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_O95067 45282 398 9 15 Cytosol;Cytoskeleton;Golgi apparatus NA 0 PE1 -NX_O95069 47093 426 8.46 1 Endoplasmic reticulum membrane;Cell membrane NA 4 PE1 -NX_O95070 32011 293 8.98 11 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus;Microtubule organizing center NA 5 PE1 -NX_O95071 309352 2799 5.59 8 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_O95072 62614 547 5 14 Nucleoplasm;Nucleus;Centromere;Chromosome NA 0 PE1 -NX_O95073 34768 299 6.62 8 Nucleus NA 0 PE1 -NX_O95076 36935 343 8.81 1 Nucleus Frontonasal dysplasia 1 0 PE1 -NX_O95081 48963 481 9.28 7 NA NA 0 PE1 -NX_O95084 43001 383 9.48 11 Golgi apparatus;Secreted NA 0 PE1 -NX_O95096 30133 273 7.81 20 Nucleus NA 0 PE1 -NX_O95104 125869 1147 9.58 21 Nucleoplasm;Nucleus NA 0 PE1 -NX_O95125 74720 648 5.63 11 Nucleus NA 0 PE1 -NX_O95136 38867 353 9.21 19 Nucleus speckle;Golgi apparatus;Cell membrane Deafness, autosomal recessive, 68 7 PE1 -NX_O95139 15489 128 9.63 9 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_O95140 86402 757 6.52 1 Mitochondrion outer membrane Neuropathy, hereditary motor and sensory, 6A;Charcot-Marie-Tooth disease 2A2A;Charcot-Marie-Tooth disease 2A2B 2 PE1 -NX_O95147 22255 198 9.62 17 Cytosol;Nucleoplasm NA 0 PE1 -NX_O95149 41143 360 6.17 15 Cytoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_O95150 28087 251 6.31 9 Cytosol;Membrane;Nucleus;Nucleus membrane;Secreted NA 1 PE1 -NX_O95153 200051 1857 5.05 17 Mitochondrion;Cytoplasm NA 0 PE1 -NX_O95154 37206 331 6.67 1 Cytoplasm NA 0 PE1 -NX_O95155 146185 1302 6.13 1 Cytoplasm;Nucleus NA 0 PE1 -NX_O95156 29938 264 8.95 2 Secreted NA 0 PE2 -NX_O95157 28127 252 8.82 17 Secreted NA 0 PE1 -NX_O95158 33065 308 9.89 12 Secreted NA 0 PE1 -NX_O95159 34114 310 8.42 11 cis-Golgi network membrane;Golgi apparatus NA 1 PE1 -NX_O95163 150254 1332 5.61 9 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Neuropathy, hereditary sensory and autonomic, 3 0 PE1 -NX_O95164 13157 117 6.27 13 Cytoplasm;Nucleus;Centrosome;Cell membrane NA 0 PE1 -NX_O95166 13918 117 8.73 17 Cytoplasmic vesicle;Cytoskeleton;Golgi apparatus membrane;Autophagosome;Endomembrane system NA 0 PE1 -NX_O95167 9279 84 8.01 19 Mitochondrion inner membrane NA 1 PE1 -NX_O95168 15209 129 9.85 3 Mitochondrion;Mitochondrion inner membrane;Nucleus membrane NA 1 PE1 -NX_O95169 21766 186 6.29 10 Mitochondrion;Mitochondrion inner membrane;Endoplasmic reticulum NA 1 PE1 -NX_O95170 85370 752 9.23 17 NA NA 0 PE2 -NX_O95171 77552 688 9.42 13 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane;Membrane NA 0 PE1 -NX_O95177 12619 125 8.04 16 NA NA 0 PE5 -NX_O95178 12058 105 5.47 7 Mitochondrion inner membrane NA 0 PE1 -NX_O95180 259163 2353 7.13 16 Cytoplasmic vesicle;Nucleoplasm;Cell membrane Hyperaldosteronism, familial, 4;Epilepsy, idiopathic generalized 6;Epilepsy, childhood absence 6 24 PE1 -NX_O95182 12551 113 10.19 19 Mitochondrion;Cytoplasm;Mitochondrion inner membrane;Cell membrane NA 0 PE1 -NX_O95183 12805 116 7.7 2 trans-Golgi network membrane;Cell membrane;Endomembrane system NA 1 PE1 -NX_O95185 103146 931 5.74 4 Synaptosome;Cell membrane NA 1 PE1 -NX_O95190 21011 189 5.21 15 Nucleus;Golgi apparatus NA 0 PE1 -NX_O95196 60016 566 4.39 3 Endoplasmic reticulum membrane;Nucleoplasm;Cell membrane;Golgi apparatus membrane;Mitochondrion;Cell surface NA 1 PE1 -NX_O95197 112611 1032 4.85 11 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum NA 0 PE1 -NX_O95198 65975 593 6.3 4 Ruffle;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Lamellipodium;Cytoskeleton;Cell projection NA 0 PE1 -NX_O95199 60315 551 5.29 13 Nucleus;Acrosome;Golgi apparatus NA 0 PE1 -NX_O95201 60630 554 8.88 16 Nucleoplasm;Nucleus NA 0 PE1 -NX_O95202 83354 739 6.3 4 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_O95206 113019 1070 5.35 13 Golgi apparatus;Cytosol;Cell membrane;Dendrite;Postsynaptic cell membrane;Presynaptic cell membrane NA 1 PE1 -NX_O95208 68482 641 7.11 17 Cytoplasmic vesicle;Cytoplasm;Clathrin-coated vesicle NA 0 PE1 -NX_O95210 39007 358 5.46 4 Cytosol;Endoplasmic reticulum membrane;Preautophagosomal structure membrane NA 1 PE1 -NX_O95214 14428 131 5.55 8 Membrane NA 4 PE1 -NX_O95218 37404 330 10.03 1 Nucleus NA 0 PE1 -NX_O95219 51909 450 5.69 3 Early endosome membrane;Early endosome NA 0 PE1 -NX_O95221 35132 314 8.9 11 Cell membrane NA 7 PE2 -NX_O95222 36154 327 8.4 11 Cell membrane NA 7 PE2 -NX_O95229 31293 277 5.1 10 Kinetochore;Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_O95231 27552 258 9.74 10 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_O95232 51466 432 9.81 17 Nucleus speckle NA 0 PE1 -NX_O95235 100278 890 6.49 5 Nucleoplasm;Spindle;Cytoskeleton;Golgi apparatus;Cleavage furrow NA 0 PE1 -NX_O95236 44278 402 8.4 22 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 -NX_O95237 25703 230 7.01 4 Endoplasmic reticulum membrane;Rough endoplasmic reticulum;Golgi apparatus;Endoplasmic reticulum;Perinuclear region;Multivesicular body Leber congenital amaurosis 14 1 PE1 -NX_O95238 37518 335 5.89 6 Nucleolus;Nucleus NA 0 PE1 -NX_O95239 139881 1232 5.99 X Spindle;Nucleus matrix;Midbody;Chromosome Mental retardation, X-linked 100 0 PE1 -NX_O95243 66051 580 9.01 3 Nucleus speckle;Nucleus NA 0 PE1 -NX_O95248 208443 1868 6.46 22 Nucleus Charcot-Marie-Tooth disease 4B3 0 PE1 -NX_O95249 28613 250 9.46 17 Golgi apparatus membrane NA 1 PE1 -NX_O95251 70642 611 9.01 17 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_O95255 164906 1503 8.82 16 Endoplasmic reticulum membrane;Basolateral cell membrane;Cell membrane Pseudoxanthoma elasticum;Arterial calcification of infancy, generalized, 2 17 PE1 -NX_O95256 68310 599 8.67 2 Cell membrane NA 1 PE1 -NX_O95257 17121 159 4.26 9 Nucleus NA 0 PE1 -NX_O95258 36202 325 9.66 X Mitochondrion;Mitochondrion inner membrane NA 6 PE1 -NX_O95259 111423 989 7.52 1 Cytoplasmic vesicle;Perikaryon;Early endosome membrane;Cell membrane;Axon;Dendrite;Presynaptic cell membrane;Postsynaptic density;Nucleus inner membrane Zimmermann-Laband syndrome 1;Temple-Baraitser syndrome 6 PE1 -NX_O95260 59090 518 8.17 10 Cytoplasm;Nucleus NA 0 PE1 -NX_O95263 98979 885 6.35 5 Nucleoplasm;Cytosol Primary pigmented nodular adrenocortical disease 3;Striatal degeneration, autosomal dominant 1 0 PE1 -NX_O95264 50292 441 5.15 11 Cell membrane NA 4 PE1 -NX_O95267 90402 797 8.2 15 Endoplasmic reticulum membrane;Cytosol;Golgi apparatus membrane;Cell membrane Systemic lupus erythematosus 0 PE1 -NX_O95271 142039 1327 6.58 8 Nucleus membrane;Nucleoplasm;Cytoplasm;Nuclear pore complex;Telomere;Golgi apparatus membrane;Centromere;Spindle pole NA 0 PE1 -NX_O95273 40262 360 4.71 15 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O95274 35971 346 8.05 19 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane NA 0 PE1 -NX_O95278 37158 331 6.19 6 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm Epilepsy, progressive myoclonic 2 0 PE1 -NX_O95279 55130 499 6.3 6 Nucleus;Membrane NA 4 PE1 -NX_O95292 27228 243 6.85 20 Endoplasmic reticulum membrane;Endoplasmic reticulum Amyotrophic lateral sclerosis 8;Spinal muscular atrophy, proximal, adult, autosomal dominant 1 PE1 -NX_O95294 90016 804 6.09 12 Cytosol;Cell junction;Cell membrane NA 0 PE1 -NX_O95295 14874 136 9.35 1 Synaptic vesicle membrane;Nucleolus;Golgi apparatus;Cytosol;Perinuclear region;Lysosome membrane;Golgi apparatus membrane;Membrane NA 0 PE1 -NX_O95297 29082 269 8.85 1 Cytoplasmic vesicle;Cell membrane;Membrane NA 1 PE1 -NX_O95298 14188 119 9.04 11 Cytoplasm;Mitochondrion inner membrane NA 1 PE1 -NX_O95299 40751 355 8.67 2 Mitochondrion;Mitochondrion matrix Leigh syndrome 0 PE1 -NX_O95302 63084 570 4.91 7 Endoplasmic reticulum NA 0 PE1 -NX_O95319 54285 508 8.98 10 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_O95336 27547 258 5.7 19 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_O95340 69501 614 8.18 10 Mitochondrion Brachyolmia type 4 with mild epiphyseal and metaphyseal changes 0 PE1 -NX_O95342 146407 1321 6.17 2 Cytosol;Nucleoplasm;Cell membrane;Membrane Cholestasis, benign recurrent intrahepatic, 2;Cholestasis, progressive familial intrahepatic, 2 12 PE1 -NX_O95343 35487 332 8.95 2 Nucleoplasm;Nucleus Schizencephaly;Holoprosencephaly 2 0 PE1 -NX_O95347 135656 1197 8.54 9 Cytoplasm;Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_O95352 77960 703 5.85 3 Nucleoplasm;Cytoplasm;Preautophagosomal structure;Cytosol;Cell membrane NA 0 PE1 -NX_O95359 309427 2948 4.71 10 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Centrosome NA 0 PE1 -NX_O95361 63955 564 5.34 17 Cytoplasm NA 0 PE1 -NX_O95363 52357 451 6.99 6 Mitochondrion;Mitochondrion matrix;Cell membrane Combined oxidative phosphorylation deficiency 14;Spastic paraplegia 77, autosomal recessive 0 PE1 -NX_O95365 61439 584 4.98 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_O95371 34412 312 8.96 16 Cell membrane NA 7 PE2 -NX_O95372 24737 231 6.74 1 Cytoplasm NA 0 PE1 -NX_O95373 119517 1038 4.7 11 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_O95376 57819 493 5.4 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O95377 31088 273 8.53 1 Gap junction;Cell membrane NA 4 PE1 -NX_O95379 23003 198 7.75 5 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_O95382 142596 1288 6.7 1 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 -NX_O95388 40331 367 6.84 8 Cytosol;Secreted NA 0 PE1 -NX_O95389 39293 354 8.87 6 Endoplasmic reticulum;Secreted Progressive pseudorheumatoid arthropathy of childhood 0 PE1 -NX_O95390 45091 407 8.18 12 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_O95391 68387 586 6.69 5 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_O95393 48047 424 4.89 2 Secreted NA 0 PE1 -NX_O95394 59852 542 5.84 6 Nucleoplasm;Cytosol Immunodeficiency 23 0 PE1 -NX_O95395 50864 438 8.53 15 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_O95396 49669 460 5.85 20 Cytoplasm NA 0 PE1 -NX_O95397 43539 391 5.03 12 NA NA 0 PE5 -NX_O95398 103751 923 7.28 12 Cytosol;Endomembrane system NA 0 PE1 -NX_O95399 14296 124 7.67 1 Secreted NA 0 PE1 -NX_O95400 37646 341 4.49 16 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_O95402 65446 600 9.27 19 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytosol NA 0 PE1 -NX_O95405 156403 1425 4.89 1 Cytoplasmic vesicle;Cytoplasm;Early endosome membrane;Cytosol NA 0 PE1 -NX_O95406 16699 144 5.39 14 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus membrane NA 3 PE1 -NX_O95407 32680 300 8.68 20 Secreted NA 0 PE1 -NX_O95409 55006 532 8.68 13 Cytoplasm;Nucleus Holoprosencephaly 5 0 PE1 -NX_O95411 12414 115 8.35 17 Nucleus NA 0 PE2 -NX_O95415 13645 125 8.69 7 Lysosome membrane NA 2 PE1 -NX_O95416 26485 240 9.68 3 Nucleus NA 0 PE1 -NX_O95424 10429 95 3.61 16 Cytosol;Cytoplasm;Nucleus speckle NA 0 PE2 -NX_O95425 247746 2214 6.55 10 Cleavage furrow;Cytosol;Cell membrane;Midbody;Cytoskeleton;Podosome;Invadopodium NA 0 PE1 -NX_O95427 105810 931 8.82 18 Endoplasmic reticulum membrane;Cytosol;Cell membrane Multiple congenital anomalies-hypotonia-seizures syndrome 1 15 PE1 -NX_O95428 137700 1278 6.45 14 Nucleoplasm;Secreted NA 0 PE1 -NX_O95429 49594 457 5.02 8 Cytoplasm NA 0 PE1 -NX_O95433 38274 338 5.41 14 Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_O95436 75759 690 8.54 4 Membrane Pulmonary alveolar microlithiasis 8 PE1 -NX_O95445 21253 188 5.66 6 Cell membrane;Golgi apparatus;Secreted NA 0 PE1 -NX_O95447 76505 670 9.51 21 Cytosol;Nucleoplasm NA 0 PE1 -NX_O95450 134755 1211 6.76 5 Cytoplasmic vesicle;Cell membrane;Extracellular matrix Ehlers-Danlos syndrome, dermatosparaxis type 0 PE1 -NX_O95452 30387 261 8.81 13 Gap junction;Cell junction;Cell membrane Ectodermal dysplasia 2, Clouston type;Deafness, autosomal recessive, 1B;Deafness, autosomal dominant, 3B 4 PE1 -NX_O95453 73451 639 5.86 16 Cytoplasm;Nucleolus;Nucleus;Nucleus speckle Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 4;Dyskeratosis congenita, autosomal recessive, 6 0 PE1 -NX_O95455 40214 350 6.15 13 Cytoskeleton;Nucleolus;Nucleus;Cleavage furrow Catel-Manzke syndrome 0 PE1 -NX_O95456 32854 288 6.88 21 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus;Endoplasmic reticulum NA 0 PE1 -NX_O95460 68487 622 5.73 20 Secreted NA 0 PE1 -NX_O95461 88066 756 7.89 22 Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 1 PE1 -NX_O95466 121854 1100 5.56 17 Cytosol;Cytoplasm;Cell cortex;Phagosome;Cell membrane;Bleb NA 0 PE1 -NX_O95467 28029 245 5.37 20 Secretory vesicle;Secreted Pseudohypoparathyroidism 1B;ACTH-independent macronodular adrenal hyperplasia 1;GNAS hyperfunction 0 PE1 -NX_O95470 63524 568 9.24 10 Endoplasmic reticulum membrane;Endoplasmic reticulum Nephrotic syndrome 14 1 PE1 -NX_O95471 22418 211 8.91 17 Cytoplasmic vesicle;Tight junction;Basolateral cell membrane;Cell junction;Cell membrane NA 4 PE1 -NX_O95473 25820 234 7.64 19 Golgi apparatus;Membrane NA 4 PE1 -NX_O95475 27687 246 9.49 14 Nucleoplasm;Nucleus Optic disk anomalies with retinal and/or macular dystrophy 0 PE1 -NX_O95476 28377 244 9.78 17 Endoplasmic reticulum membrane;Lipid droplet;Nucleus membrane NA 1 PE1 -NX_O95477 254302 2261 6.43 9 Nucleoplasm;Cytoplasmic vesicle;Membrane High density lipoprotein deficiency 2;High density lipoprotein deficiency 1 15 PE1 -NX_O95478 30065 260 10.28 5 Nucleolus;Nucleus NA 0 PE1 -NX_O95479 88893 791 6.84 1 Cytosol;Endoplasmic reticulum lumen Cortisone reductase deficiency 1 0 PE1 -NX_O95484 22848 217 6.54 16 Cytoplasmic vesicle;Cell membrane;Cell junction;Tight junction NA 4 PE1 -NX_O95486 119749 1093 7.58 5 Cytoplasmic vesicle;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Nucleolus;Cytosol NA 0 PE1 -NX_O95487 137418 1268 6.19 4 Cytoplasmic vesicle;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Nucleus;Cytosol NA 0 PE1 -NX_O95490 163349 1459 6.02 1 Cell junction;Cell membrane;Membrane NA 7 PE1 -NX_O95497 57012 513 5.32 6 Cell membrane NA 0 PE1 -NX_O95498 58503 520 6.07 6 Cell membrane NA 0 PE1 -NX_O95500 25699 239 8.94 21 Cytoplasmic vesicle;Cell membrane;Tight junction Deafness, autosomal recessive, 29 4 PE1 -NX_O95502 52846 500 5.82 22 Nucleoplasm;Cytosol;Cell membrane;Membrane NA 1 PE1 -NX_O95503 43898 412 10.02 22 Mitochondrion;Nucleus;Chromosome NA 0 PE1 -NX_O95521 55149 474 8.88 1 NA NA 0 PE2 -NX_O95522 54633 483 6.11 1 Nucleoplasm NA 0 PE3 -NX_O95528 56911 541 8.9 20 Nucleoplasm;Cytoplasmic vesicle;Perinuclear region;Endomembrane system Arterial tortuosity syndrome 12 PE1 -NX_O95544 49228 446 6.03 1 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_O95551 40930 362 5.02 6 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;PML body Spinocerebellar ataxia, autosomal recessive, 23 0 PE1 -NX_O95561 21209 183 9.86 1 NA NA 0 PE1 -NX_O95562 17779 160 9.34 1 Membrane NA 4 PE1 -NX_O95563 14279 127 10.44 1 Mitochondrion;Mitochondrion inner membrane NA 3 PE1 -NX_O95567 32655 290 10.06 22 NA NA 0 PE2 -NX_O95568 42148 372 6.29 1 Nucleoplasm;Cytosol NA 0 PE1 -NX_O95571 27873 254 6.35 19 Mitochondrion matrix;Cytoplasm;Mitochondrion;Nucleus Ethylmalonic encephalopathy 0 PE1 -NX_O95573 80420 720 8.65 2 Endoplasmic reticulum membrane;Microsome membrane;Peroxisome membrane;Lipid droplet;Mitochondrion outer membrane;Nucleolus NA 1 PE1 -NX_O95600 39314 359 7.19 X Nucleoplasm;Nucleus NA 0 PE1 -NX_O95602 194811 1720 6.61 2 Nucleolus;Nucleus Acrofacial dysostosis, Cincinnati type 0 PE1 -NX_O95613 378037 3336 5.4 21 Centrosome Microcephalic osteodysplastic primordial dwarfism 2 0 PE1 -NX_O95619 26499 227 8.4 12 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_O95620 35816 317 7.04 7 Cytosol NA 0 PE1 -NX_O95622 138908 1261 6.9 3 Cytoskeleton;Cilium;Cell membrane Dyskinesia, familial, with facial myokymia 12 PE1 -NX_O95625 119384 1053 8.93 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_O95626 14806 131 4.98 12 NA NA 0 PE2 -NX_O95628 63510 575 6.58 7 Cytoplasm;Nucleus NA 0 PE1 -NX_O95630 48077 424 5.89 2 Cytosol;Cytoplasm;Membrane;Cell membrane;Nucleoplasm;Nucleus;Early endosome Microcephaly-capillary malformation syndrome 0 PE1 -NX_O95631 67748 604 9.1 17 Extracellular matrix NA 0 PE1 -NX_O95633 27663 263 6.37 19 Nucleoplasm;Nucleus;Secreted NA 0 PE1 -NX_O95639 30255 269 8.68 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_O95644 101243 943 6.52 18 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O95661 25861 229 9.46 1 Cytosol;Cell membrane;Nucleus membrane NA 0 PE1 -NX_O95665 45385 410 9.5 2 Cell membrane NA 7 PE1 -NX_O95670 13604 118 10.26 6 Melanosome NA 0 PE1 -NX_O95671 68857 621 5.71 X Cytosol NA 0 PE1 -NX_O95672 87791 775 6.58 2 Nucleoplasm;Nucleolus;Nucleus membrane;Membrane Arthrogryposis, distal, 5D 1 PE1 -NX_O95674 51418 445 6.64 20 Cytosol;Mitochondrion inner membrane;Endoplasmic reticulum NA 6 PE1 -NX_O95677 69505 639 5.04 6 Nucleoplasm;Cytoplasm;Nucleus Cardiomyopathy, dilated 1J;Deafness, autosomal dominant, 10 0 PE1 -NX_O95678 59560 551 7.6 12 Cytosol;Cell membrane Loose anagen hair syndrome 0 PE1 -NX_O95684 43065 399 4.67 6 Centriole;Centrosome;Cilium basal body NA 0 PE1 -NX_O95685 32559 299 8.44 20 Mitochondrion;Cytoplasmic vesicle;Nucleolus NA 0 PE1 -NX_O95696 119520 1058 8.91 22 Nucleus speckle;Nucleus NA 0 PE1 -NX_O95704 52585 486 5.97 5 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_O95707 25425 220 10.08 19 Nucleolus NA 0 PE1 -NX_O95711 17906 162 5.83 6 Extracellular space NA 0 PE1 -NX_O95714 527228 4834 5.88 15 Centriole;Cytoplasmic vesicle;Nucleus;Cytoplasm Mental retardation, autosomal recessive 38 0 PE1 -NX_O95715 13078 111 10.1 5 Golgi apparatus;Secreted NA 0 PE1 -NX_O95716 24267 219 4.76 19 Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_O95718 48054 433 8.09 14 Cytoplasm;Nucleus;Chromosome Deafness, autosomal recessive, 35 0 PE1 -NX_O95721 28970 258 5.56 22 Autophagosome membrane;Cytosol;Nucleoplasm;Cytoplasm;Cilium membrane;Golgi apparatus membrane Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 0 PE1 -NX_O95727 44641 393 6.37 11 Membrane NA 1 PE1 -NX_O95741 61991 557 5.32 14 Endosome;Perikaryon;Cytoplasm;Cell membrane;Dendrite;Clathrin-coated vesicle NA 0 PE1 -NX_O95744 32669 297 9.52 7 NA NA 0 PE5 -NX_O95747 58022 527 6.03 3 Cytosol;Cytoplasm NA 0 PE1 -NX_O95749 34871 300 5.78 1 Cytoplasm NA 0 PE1 -NX_O95750 24003 216 6.55 11 Secreted NA 0 PE1 -NX_O95751 16968 146 4.11 X Nucleolus;Nucleus NA 0 PE1 -NX_O95754 83511 770 6.5 2 Cell membrane;Nucleus;Centrosome;Endoplasmic reticulum;Membrane NA 1 PE1 -NX_O95755 36322 333 8.05 22 Cytoplasmic vesicle;Golgi apparatus membrane NA 0 PE1 -NX_O95757 94512 839 5.63 4 Cytosol;Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_O95758 59690 552 9.13 9 Nucleus NA 0 PE1 -NX_O95759 130835 1140 5.32 2 Nucleus NA 0 PE1 -NX_O95760 30759 270 8.89 9 Secretory vesicle;Nucleus;Chromosome;Secreted NA 0 PE1 -NX_O95772 26655 234 4.75 7 Cytoplasmic vesicle;Late endosome membrane NA 4 PE1 -NX_O95777 10403 96 4.34 7 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_O95780 58361 498 9.22 19 Nucleus;Golgi apparatus NA 0 PE1 -NX_O95782 107546 977 6.63 19 Cytoplasmic vesicle;Coated pit;Cell membrane NA 0 PE1 -NX_O95785 178674 1651 6.4 19 Nucleoplasm;Nucleus;Midbody NA 0 PE1 -NX_O95786 106600 925 6.03 9 Cytosol;Cytoplasm;Cytoskeleton;Ruffle membrane;Tight junction Singleton-Merten syndrome 2 0 PE1 -NX_O95789 148089 1325 8.59 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_O95793 63182 577 9.46 20 Cytosol;Cytoplasm;Rough endoplasmic reticulum NA 0 PE1 -NX_O95800 59359 540 9.28 2 Cell membrane NA 7 PE1 -NX_O95801 44679 387 5.43 1 NA NA 0 PE1 -NX_O95803 100902 873 8.21 4 Golgi apparatus membrane NA 1 PE2 -NX_O95807 17400 157 5.57 1 Cytosol;Cytoskeleton;Cell membrane;Endoplasmic reticulum;Membrane NA 4 PE1 -NX_O95810 47173 425 5.14 2 Cytosol;Caveola;Cell membrane NA 0 PE1 -NX_O95813 30084 267 7.7 9 Secreted NA 0 PE1 -NX_O95816 23772 211 6.25 6 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_O95817 61595 575 6.46 10 Cytosol;Cytoplasm;Nucleus;Cell membrane Cardiomyopathy, dilated 1HH;Myopathy, myofibrillar, 6 0 PE1 -NX_O95819 142101 1239 7.09 2 Cytoplasm NA 0 PE1 -NX_O95822 55003 493 9.11 16 Mitochondrion matrix;Cytoplasm;Peroxisome matrix;Peroxisome Malonyl-CoA decarboxylase deficiency 0 PE1 -NX_O95825 38697 349 5.49 21 Cytosol;Nucleoplasm NA 0 PE1 -NX_O95831 66901 613 9.04 X Cytoplasm;Perinuclear region;Nucleus;Mitochondrion inner membrane;Mitochondrion intermembrane space Cowchock syndrome;Deafness, X-linked, 5;Combined oxidative phosphorylation deficiency 6 0 PE1 -NX_O95832 22744 211 8.41 3 Basolateral cell membrane;Tight junction;Cell membrane Ichthyosis-sclerosing cholangitis neonatal syndrome 4 PE1 -NX_O95833 26648 236 5.99 9 Cytoplasm;Nucleus;Membrane NA 1 PE1 -NX_O95834 70679 649 5.86 19 Cytoplasmic vesicle;Cytoskeleton;Spindle NA 0 PE1 -NX_O95835 126870 1130 8.84 6 Cytoplasmic vesicle;Nucleoplasm;Centrosome NA 0 PE1 -NX_O95837 41571 355 5.81 9 NA NA 0 PE1 -NX_O95838 63001 553 9.1 17 Cell membrane NA 7 PE2 -NX_O95841 56720 491 8.42 1 Secreted NA 0 PE1 -NX_O95843 23822 209 4.95 3 Focal adhesion NA 0 PE1 -NX_O95847 36064 323 9.15 6 Mitochondrion;Mitochondrion inner membrane NA 6 PE1 -NX_O95848 24118 222 4.95 14 Cytoplasm;Cytoskeleton;Nucleolus NA 0 PE1 -NX_O95857 22147 204 8.27 7 Nucleus;Membrane NA 4 PE1 -NX_O95858 33165 294 5.3 10 Nucleoplasm;Cytosol;Late endosome membrane;Cell membrane NA 4 PE1 -NX_O95859 35383 305 5.72 7 Cytoplasmic vesicle;Cytoskeleton;Cell membrane Vitreoretinopathy, exudative 5 4 PE1 -NX_O95861 33392 308 5.46 1 Nucleus speckle NA 0 PE1 -NX_O95863 29083 264 8.97 20 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_O95864 52259 444 8.86 11 Endoplasmic reticulum membrane NA 4 PE1 -NX_O95865 29644 285 5.66 6 Mitochondrion;Cytoplasm;Cytosol;Microtubule organizing center NA 0 PE1 -NX_O95866 26163 241 9.68 6 Cell membrane;Endoplasmic reticulum;Golgi apparatus Thrombocytopenia, anemia, and myelofibrosis 1 PE1 -NX_O95867 13821 125 8.53 6 Cell membrane NA 0 PE1 -NX_O95868 13691 133 6.56 6 Filopodium;Cell membrane NA 0 PE1 -NX_O95870 63243 558 8.39 6 Membrane NA 2 PE1 -NX_O95872 39314 356 8.36 6 Endoplasmic reticulum NA 0 PE1 -NX_O95873 31710 294 5.95 6 Cytosol NA 0 PE1 -NX_O95876 85084 746 5.97 2 Cell junction;Cilium axoneme;Cell membrane;Cilium basal body Congenital heart defects, hamartomas of tongue, and polysyndactyly;Bardet-Biedl syndrome 15 0 PE1 -NX_O95881 19206 172 5.25 1 Endoplasmic reticulum lumen NA 0 PE1 -NX_O95886 106040 979 8.99 1 Postsynaptic density;Synapse;Cell membrane NA 0 PE1 -NX_O95897 51386 454 8.06 19 Synapse;Secreted;Nucleoplasm;Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_O95900 36694 331 9.12 9 Cytosol;Mitochondrion matrix NA 0 PE1 -NX_O95905 72758 644 4.75 10 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_O95907 52319 504 5.53 22 Cytoskeleton;Focal adhesion;Cell membrane NA 12 PE1 -NX_O95918 34763 312 8.51 6 Cell membrane NA 7 PE2 -NX_O95922 48988 423 8.87 22 Mitochondrion;Cytoskeleton;Nucleolus NA 0 PE1 -NX_O95925 15284 133 8.52 20 Cell surface;Secreted NA 0 PE1 -NX_O95926 28722 243 8.38 1 Nucleus speckle;Nucleus NA 0 PE1 -NX_O95931 28341 251 9.46 22 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_O95932 79312 706 6.85 20 Cytoplasm Spinocerebellar ataxia 35 0 PE1 -NX_O95935 64753 607 8.98 6 Nucleus Congenital anomalies of kidney and urinary tract 2 0 PE1 -NX_O95936 72732 686 6.94 3 Nucleus NA 0 PE1 -NX_O95944 30677 276 8.15 6 Cell membrane NA 1 PE1 -NX_O95947 47045 436 8.16 16 Nucleus Spondylocostal dysostosis 5 0 PE1 -NX_O95948 54303 504 9.65 18 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_O95954 58927 541 5.58 21 Centriole;Cytosol;Cell membrane;Golgi apparatus Glutamate formiminotransferase deficiency 0 PE1 -NX_O95965 53921 494 5.39 13 Secreted NA 0 PE1 -NX_O95967 49405 443 4.79 11 Secreted Cutis laxa, autosomal recessive, 1B 0 PE1 -NX_O95968 9898 90 9.41 11 Secreted NA 0 PE1 -NX_O95969 9925 90 8.58 11 Secreted NA 0 PE1 -NX_O95970 63818 557 8.5 10 Synapse;Secreted Epilepsy, familial temporal lobe, 1 0 PE1 -NX_O95971 19810 181 6.94 1 Cell membrane NA 0 PE1 -NX_O95972 45055 392 9.28 X Secreted Premature ovarian failure 4;Ovarian dysgenesis 2 0 PE1 -NX_O95976 27013 241 8.93 16 Membrane NA 1 PE1 -NX_O95977 41623 384 10.04 19 Mitochondrion;Cell membrane NA 7 PE1 -NX_O95980 106457 971 6.35 9 Cell membrane NA 0 PE1 -NX_O95983 32844 291 5.22 19 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_O95985 96662 862 8.47 22 Cytoplasmic vesicle NA 0 PE1 -NX_O95988 14846 128 6.84 14 Cytosol NA 0 PE1 -NX_O95989 19471 172 5.99 6 Cytoplasm NA 0 PE1 -NX_O95990 17455 144 9.71 3 Nucleus speckle;Synapse;Stress fiber;Focal adhesion;Nucleus;Ruffle membrane NA 0 PE1 -NX_O95992 31745 272 6.77 10 Endoplasmic reticulum membrane NA 3 PE1 -NX_O95994 19979 175 9.03 7 Cytosol;Endoplasmic reticulum;Secreted NA 0 PE1 -NX_O95995 56356 478 7.72 16 Flagellum axoneme;Flagellum;Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Cilium axoneme;Cytoskeleton;Cilium;Cilium basal body Ciliary dyskinesia, primary, 33 0 PE1 -NX_O95996 243949 2303 9.08 19 Golgi apparatus;Cytosol;Cytoplasm;Perinuclear region;Cytoskeleton;Midbody Sotos syndrome 3 0 PE1 -NX_O95997 22024 202 6.18 5 Cytoplasm;Nucleus NA 0 PE1 -NX_O95998 21099 194 6.99 11 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_O95999 26252 233 5.57 1 Nucleoplasm;Perinuclear region;Membrane raft Lymphoma, mucosa-associated lymphoid type;Immunodeficiency 37 0 PE1 -NX_O96000 20777 172 8.72 16 Mitochondrion inner membrane NA 0 PE1 -NX_O96001 17866 155 8.48 7 Nucleoplasm NA 0 PE1 -NX_O96002 13452 111 9.61 X Membrane NA 2 PE5 -NX_O96004 23627 215 9.69 5 Nucleoplasm;Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 -NX_O96005 76097 669 5.88 19 Nucleus membrane;Golgi apparatus;Cell membrane;Microtubule organizing center;Endoplasmic reticulum;Membrane NA 5 PE1 -NX_O96006 78156 694 5.79 X Nucleus NA 0 PE1 -NX_O96007 20944 188 5.35 5 Cytosol;Nucleus Molybdenum cofactor deficiency, complementation group B 0 PE1 -NX_O96008 37893 361 6.79 19 Mitochondrion;Cytosol;Mitochondrion outer membrane NA 0 PE1 -NX_O96009 45387 420 6.15 19 Secreted NA 0 PE1 -NX_O96011 28431 259 9.91 1 Peroxisome membrane Peroxisome biogenesis disorder 14B 1 PE1 -NX_O96013 64072 591 9.76 19 Cytoplasm;Cell junction;Cell membrane NA 0 PE1 -NX_O96014 39179 354 9.05 11 Cytosol;Centrosome;Extracellular matrix NA 0 PE1 -NX_O96015 12009 105 5.36 22 Cytosol;Nucleolus;Nucleus;Centrosome;Cilium axoneme Mirror movements 3 0 PE1 -NX_O96017 60915 543 5.65 22 Nucleoplasm;PML body;Nucleus;Golgi apparatus Osteogenic sarcoma;Prostate cancer;Breast cancer;Li-Fraumeni syndrome 2 0 PE1 -NX_O96018 61454 575 4.83 19 Cytoplasmic vesicle;Perinuclear region NA 0 PE1 -NX_O96019 47461 429 5.39 3 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_O96020 46757 404 7.95 8 Nucleus NA 0 PE1 -NX_O96024 41537 378 8.63 6 Golgi apparatus membrane NA 1 PE1 -NX_O96028 152258 1365 9 4 Cytoplasm;Nucleus;Chromosome NA 0 PE1 -NX_O96033 9755 88 4.67 5 Cytosol Molybdenum cofactor deficiency, complementation group B 0 PE1 -NX_O97980 4965 41 4.95 5 NA NA 0 PE1 -NX_P00156 42718 380 7.83 MT Mitochondrion;Mitochondrion inner membrane Cardiomyopathy, infantile histiocytoid;Leber hereditary optic neuropathy 8 PE1 -NX_P00167 15330 134 4.88 18 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cytoplasm;Cytosol;Microsome membrane Methemoglobinemia and ambiguous genitalia 1 PE1 -NX_P00325 39855 375 8.63 4 Cytoplasm NA 0 PE1 -NX_P00326 39868 375 8.63 4 Cytoplasm NA 0 PE1 -NX_P00338 36689 332 8.44 11 Cytosol;Cytoplasm;Cytoplasmic vesicle Glycogen storage disease 11 0 PE1 -NX_P00352 54862 501 6.3 9 Cytosol NA 0 PE1 -NX_P00367 61398 558 7.66 10 Mitochondrion matrix Familial hyperinsulinemic hypoglycemia 6 0 PE1 -NX_P00374 21453 187 6.85 5 Mitochondrion;Cytoplasm Megaloblastic anemia due to dihydrofolate reductase deficiency 0 PE1 -NX_P00387 34235 301 7.18 22 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum;Mitochondrion outer membrane Methemoglobinemia CYB5R3-related 0 PE1 -NX_P00390 56257 522 8.74 8 Mitochondrion;Cytoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_P00395 57041 513 6.19 MT Mitochondrion;Mitochondrion inner membrane Leber hereditary optic neuropathy;Deafness, sensorineural, mitochondrial;Colorectal cancer;Mitochondrial complex IV deficiency;Recurrent myoglobinuria mitochondrial 12 PE1 -NX_P00403 25565 227 4.67 MT Mitochondrion inner membrane Mitochondrial complex IV deficiency 2 PE1 -NX_P00414 29951 261 6.78 MT Nucleoplasm;Mitochondrion inner membrane Leber hereditary optic neuropathy;Mitochondrial complex IV deficiency;Recurrent myoglobinuria mitochondrial 7 PE1 -NX_P00439 51862 452 6.15 12 Cytoplasmic vesicle;Endoplasmic reticulum Phenylketonuria;Non-phenylketonuria hyperphenylalaninemia;Hyperphenylalaninemia 0 PE1 -NX_P00441 15936 154 5.7 21 Mitochondrion;Cytoplasm;Nucleus;Cytosol;Cell membrane Amyotrophic lateral sclerosis 1 0 PE1 -NX_P00450 122205 1065 5.44 3 Secreted Aceruloplasminemia 0 PE1 -NX_P00451 267009 2351 6.95 X Extracellular space Hemophilia A 0 PE1 -NX_P00480 39935 354 8.75 X Mitochondrion matrix;Mitochondrion Ornithine carbamoyltransferase deficiency 0 PE1 -NX_P00488 83267 732 5.75 6 Cytoplasm;Secreted Factor XIII subunit A deficiency 0 PE1 -NX_P00491 32118 289 6.45 14 Cytosol;Cytoplasm;Cytoskeleton Purine nucleoside phosphorylase deficiency 0 PE1 -NX_P00492 24579 218 6.21 X Cytosol;Cytoplasm;Nucleus Gout HPRT-related;Lesch-Nyhan syndrome 0 PE1 -NX_P00505 47518 430 9.14 16 Mitochondrion matrix;Cell membrane NA 0 PE1 -NX_P00519 122873 1130 8.84 9 Nucleoplasm;Mitochondrion;Cytoskeleton;Nucleus;Nucleus membrane Leukemia, chronic myeloid;Congenital heart defects and skeletal malformations syndrome 0 PE1 -NX_P00533 134277 1210 6.26 7 Endoplasmic reticulum membrane;Endosome;Nucleus membrane;Secreted;Cell membrane;Endosome membrane;Golgi apparatus membrane;Nucleus Lung cancer;Inflammatory skin and bowel disease, neonatal, 2 1 PE1 -NX_P00540 37820 346 9.15 8 NA NA 0 PE1 -NX_P00558 44615 417 8.3 X Cytoplasm Phosphoglycerate kinase 1 deficiency 0 PE1 -NX_P00568 21635 194 8.73 9 Cytosol;Cytoplasm Hemolytic anemia due to adenylate kinase deficiency 0 PE1 -NX_P00709 16225 142 4.83 12 Secreted NA 0 PE1 -NX_P00734 70037 622 5.64 11 Extracellular space Factor II deficiency;Ischemic stroke;Pregnancy loss, recurrent, 2;Thrombophilia due to thrombin defect 0 PE1 -NX_P00736 80119 705 5.82 12 Nucleoplasm;Cytosol;Secreted Ehlers-Danlos syndrome, periodontal type, 1 0 PE1 -NX_P00738 45205 406 6.13 16 Secreted Anhaptoglobinemia 0 PE1 -NX_P00739 39030 348 6.63 16 Secreted NA 0 PE1 -NX_P00740 51778 461 5.34 X Secreted Thrombophilia, X-linked, due to factor IX defect;Hemophilia B 0 PE1 -NX_P00742 54732 488 5.68 13 Secreted Factor X deficiency 0 PE1 -NX_P00746 27033 253 7.65 19 Cell membrane;Secreted Complement factor D deficiency 0 PE1 -NX_P00747 90569 810 7.04 6 Secreted Plasminogen deficiency 0 PE1 -NX_P00748 67792 615 8.04 5 Secreted Factor XII deficiency;Hereditary angioedema 3 0 PE1 -NX_P00749 48507 431 8.78 10 Secreted Quebec platelet disorder 0 PE1 -NX_P00750 62917 562 8.14 8 Extracellular space;Cytoskeleton NA 0 PE1 -NX_P00751 85533 764 6.67 6 Cytoplasmic vesicle;Cell junction;Endoplasmic reticulum;Secreted Hemolytic uremic syndrome atypical 4;Complement factor B deficiency 0 PE1 -NX_P00797 45057 406 6.61 1 Secreted;Membrane Renal tubular dysgenesis;Familial juvenile hyperuricemic nephropathy 2 0 PE1 -NX_P00813 40764 363 5.63 20 Cytoplasmic vesicle lumen;Lysosome;Cytosol;Cytoplasm;Cell membrane;Cell junction Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency 0 PE1 -NX_P00846 24817 226 10.09 MT Mitochondrion inner membrane Ataxia and polyneuropathy, adult-onset;Leber hereditary optic neuropathy;Myopathy, lactic acidosis, and sideroblastic anemia 3;Mitochondrial complex V deficiency, mitochondrial 1;Mitochondrial infantile bilateral striatal necrosis;Leigh syndrome;Neuropathy, ataxia, and retinitis pigmentosa;Cardiomyopathy, infantile hypertrophic 6 PE1 -NX_P00915 28870 261 6.59 8 Cytoplasm NA 0 PE1 -NX_P00918 29246 260 6.87 8 Cytoplasm;Cell membrane Osteopetrosis, autosomal recessive 3 0 PE1 -NX_P00966 46530 412 8.08 9 Nucleoplasm;Cytosol Citrullinemia 1 0 PE1 -NX_P00973 46029 400 8.51 12 Secreted;Cytosol;Cytoplasm;Microsome;Endoplasmic reticulum;Nucleus;Mitochondrion NA 0 PE1 -NX_P00995 8507 79 7.54 5 Secreted Pancreatitis, hereditary;Tropical calcific pancreatitis 0 PE1 -NX_P01008 52602 464 6.32 1 Extracellular space Antithrombin III deficiency 0 PE1 -NX_P01009 46737 418 5.37 14 Cytoplasmic vesicle;Extracellular matrix;Endoplasmic reticulum;Secreted Alpha-1-antitrypsin deficiency 0 PE1 -NX_P01011 47651 423 5.33 14 Secreted NA 0 PE1 -NX_P01019 53154 485 5.87 1 Secreted Essential hypertension;Renal tubular dysgenesis 0 PE1 -NX_P01023 163291 1474 6.03 12 Secreted NA 0 PE1 -NX_P01024 187148 1663 6.02 19 Secreted Macular degeneration, age-related, 9;Complement component 3 deficiency;Hemolytic uremic syndrome atypical 5 0 PE1 -NX_P01031 188305 1676 6.11 9 Secreted Complement component 5 deficiency 0 PE1 -NX_P01033 23171 207 8.46 X Golgi apparatus;Secreted NA 0 PE1 -NX_P01034 15799 146 9 20 Cytoplasmic vesicle;Golgi apparatus;Secreted Amyloidosis 6;Macular degeneration, age-related, 11 0 PE1 -NX_P01036 16214 141 4.95 20 Secreted NA 0 PE1 -NX_P01037 16388 141 6.73 20 Secreted NA 0 PE1 -NX_P01040 11006 98 5.38 3 Cytosol;Cytoplasm;Nucleus Peeling skin syndrome 4 0 PE1 -NX_P01042 71957 644 6.34 3 Extracellular space High molecular weight kininogen deficiency 0 PE1 -NX_P01100 40695 380 4.77 14 Cytosol;Nucleoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_P01106 48804 439 5.33 8 Nucleoplasm;Nucleolus Burkitt lymphoma 0 PE1 -NX_P01111 21229 189 5.01 1 Golgi apparatus membrane;Cell membrane RAS-associated autoimmune leukoproliferative disorder;Keratinocytic non-epidermolytic nevus;Melanocytic nevus syndrome, congenital;Noonan syndrome 6;Leukemia, juvenile myelomonocytic;Thyroid cancer, non-medullary, 2;Melanosis, neurocutaneous 0 PE1 -NX_P01112 21298 189 5.16 11 Golgi apparatus;Cytoplasm;Cell membrane;Perinuclear region;Golgi apparatus membrane;Nucleus Bladder cancer;Thyroid cancer, non-medullary, 2;Schimmelpenning-Feuerstein-Mims syndrome;Congenital myopathy with excess of muscle spindles;Costello syndrome 0 PE1 -NX_P01116 21656 189 6.33 12 Cytosol;Cell membrane Leukemia, acute myelogenous;Cardiofaciocutaneous syndrome 2;Leukemia, juvenile myelomonocytic;Noonan syndrome 3;Gastric cancer 0 PE1 -NX_P01127 27283 241 9.39 22 Cytoplasmic vesicle;Secreted Basal ganglia calcification, idiopathic, 5 0 PE1 -NX_P01130 95376 860 4.86 19 Late endosome;Golgi apparatus;Lysosome;Clathrin-coated pit;Cell membrane;Early endosome Familial hypercholesterolemia 1 PE1 -NX_P01133 133994 1207 5.53 4 Membrane Hypomagnesemia 4 1 PE1 -NX_P01135 17006 160 7.51 2 Cytoplasmic vesicle;Extracellular space;Cell membrane NA 1 PE1 -NX_P01137 44341 390 8.83 19 Cytosol;Extracellular matrix;Secreted Camurati-Engelmann disease 0 PE1 -NX_P01138 26959 241 9.94 1 Secreted Neuropathy, hereditary sensory and autonomic, 5 0 PE1 -NX_P01148 10380 92 6.1 8 Secreted Hypogonadotropic hypogonadism 12 with or without anosmia 0 PE1 -NX_P01160 16708 153 6.59 1 Secreted Atrial fibrillation, familial, 6;Atrial standstill 2 0 PE1 -NX_P01178 12722 125 5.72 20 Secreted NA 0 PE1 -NX_P01185 17325 164 5.2 20 Secreted Diabetes insipidus, neurohypophyseal 0 PE1 -NX_P01189 29424 267 7.57 2 Secreted Obesity;Obesity, early-onset, with adrenal insufficiency and red hair 0 PE1 -NX_P01210 30787 267 5.44 8 Secreted NA 0 PE1 -NX_P01213 28385 254 6.07 20 Secreted Spinocerebellar ataxia 23 0 PE1 -NX_P01215 13075 116 8.54 6 Secreted NA 0 PE1 -NX_P01222 15639 138 7.92 1 Secreted NA 0 PE1 -NX_P01225 14700 129 6.77 11 Secreted Hypogonadotropic hypogonadism 24 without anosmia 0 PE1 -NX_P01229 15345 141 8 19 Secreted Hypogonadotropic hypogonadism 23 without anosmia 0 PE1 -NX_P01236 25876 227 6.5 6 Cytosol;Secreted NA 0 PE1 -NX_P01241 24847 217 5.29 17 Secreted Growth hormone deficiency, isolated, 1A;Growth hormone deficiency, isolated, 1B;Kowarski syndrome;Growth hormone deficiency, isolated, 2 0 PE1 -NX_P01242 25000 217 7.59 17 Secreted NA 0 PE1 -NX_P01258 15467 141 5.77 11 Secreted NA 0 PE1 -NX_P01266 304790 2768 5.4 8 Secreted Autoimmune thyroid disease 3;Thyroid dyshormonogenesis 3 0 PE1 -NX_P01270 12861 115 9.72 11 Secreted Hypoparathyroidism, familial isolated 0 PE1 -NX_P01275 20909 180 5.85 2 Cytoplasmic vesicle;Endoplasmic reticulum;Secreted NA 0 PE1 -NX_P01282 19169 170 6.15 6 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_P01286 12447 108 10.54 20 Secreted NA 0 PE1 -NX_P01298 10445 95 6.71 17 Secreted NA 0 PE1 -NX_P01303 10851 97 6.57 7 Golgi apparatus;Secreted NA 0 PE1 -NX_P01308 11981 110 5.22 11 Secreted Hyperproinsulinemia;Diabetes mellitus, insulin-dependent, 2;Diabetes mellitus, permanent neonatal;Maturity-onset diabetes of the young 10 0 PE1 -NX_P01344 20140 180 9.5 11 Nucleoplasm;Cytoplasmic vesicle;Secreted Silver-Russell syndrome;Growth restriction, severe, with distinctive facies 0 PE1 -NX_P01350 11394 101 5.08 17 Secreted NA 0 PE1 -NX_P01374 22297 205 9.1 6 Secreted;Membrane Psoriatic arthritis 0 PE1 -NX_P01375 25644 233 6.44 6 Membrane;Cell membrane;Secreted Psoriatic arthritis 1 PE1 -NX_P01562 21725 189 5.32 9 Secreted NA 0 PE1 -NX_P01563 21550 188 6.32 9 Secreted NA 0 PE1 -NX_P01566 21835 189 5.97 9 Secreted NA 0 PE1 -NX_P01567 22107 189 6.44 9 Secreted NA 0 PE1 -NX_P01568 21741 189 6.33 9 Secreted NA 0 PE1 -NX_P01569 21942 189 5.68 9 Secreted NA 0 PE1 -NX_P01570 22063 189 6.83 9 Secreted NA 0 PE1 -NX_P01571 21728 189 5.68 9 Secreted NA 0 PE1 -NX_P01574 22294 187 8.93 9 Secreted NA 0 PE1 -NX_P01579 19348 166 9.5 12 Secreted Aplastic anemia 0 PE1 -NX_P01583 30607 271 5.04 2 Secreted NA 0 PE1 -NX_P01584 30748 269 4.7 2 Cytosol;Lysosome;Exosome;Secreted NA 0 PE1 -NX_P01588 21307 193 8.3 7 Secreted Diamond-Blackfan anemia-like;Erythrocytosis, familial, 5;Microvascular complications of diabetes 2 0 PE1 -NX_P01589 30819 272 6.11 10 Membrane Immunodeficiency 41 with lymphoproliferation and autoimmunity;Diabetes mellitus, insulin-dependent, 10 1 PE1 -NX_P01591 18099 159 5.12 4 Secreted NA 0 PE1 -NX_P01593 12848 117 4.53 2 Cell membrane;Secreted NA 0 PE1 -NX_P01594 12848 117 4.53 2 Cell membrane;Secreted NA 0 PE1 -NX_P01597 12737 117 8.91 2 Cell membrane;Secreted NA 0 PE1 -NX_P01599 12779 117 8.93 2 Cell membrane;Secreted NA 0 PE1 -NX_P01601 12730 117 7.62 2 Cell membrane;Secreted NA 0 PE1 -NX_P01602 12782 117 8.49 2 Cell membrane;Secreted NA 0 PE1 -NX_P01611 12620 117 7.69 2 Cell membrane;Secreted NA 0 PE1 -NX_P01614 13310 121 4.43 2 Cell membrane;Secreted NA 0 PE1 -NX_P01615 12957 120 5.61 2 Cell membrane;Secreted NA 0 PE1 -NX_P01619 12557 116 4.85 2 Cell membrane;Secreted NA 0 PE1 -NX_P01624 12496 115 5.14 2 Cell membrane;Secreted NA 0 PE1 -NX_P01699 12201 117 4.94 22 Cell membrane;Secreted NA 0 PE1 -NX_P01700 12284 117 5.55 22 Cell membrane;Secreted NA 0 PE1 -NX_P01701 12249 117 6.5 22 Cell membrane;Secreted NA 0 PE1 -NX_P01703 12302 118 5.39 22 Cell membrane;Secreted NA 0 PE1 -NX_P01704 12597 120 6 22 Cell membrane;Secreted NA 0 PE1 -NX_P01705 11893 113 5.59 22 Cell membrane;Secreted NA 0 PE1 -NX_P01706 12644 119 6.69 22 Cell membrane;Secreted NA 0 PE1 -NX_P01709 12382 118 5.59 22 Cell membrane;Secreted NA 0 PE1 -NX_P01714 12042 112 4.76 22 Cell membrane;Secreted NA 0 PE1 -NX_P01715 12296 115 4.75 22 Cell membrane;Secreted NA 0 PE1 -NX_P01717 12011 112 4.37 22 Cell membrane;Secreted NA 0 PE1 -NX_P01718 12165 113 4.89 22 Cell membrane;Secreted NA 0 PE1 -NX_P01721 12566 117 4.59 22 Cell membrane;Secreted NA 0 PE1 -NX_P01730 51111 458 9.6 12 Cell membrane NA 1 PE1 -NX_P01732 25729 235 9.64 2 Cell membrane;Secreted CD8 deficiency, familial 1 PE1 -NX_P01733 12997 115 5.84 7 Cell membrane NA 0 PE1 -NX_P01737 12377 113 6.81 14 Cell membrane NA 0 PE2 -NX_P01742 12659 117 9.26 14 Cell membrane;Secreted NA 0 PE1 -NX_P01743 12933 117 9.1 14 Cell membrane;Secreted NA 0 PE1 -NX_P01762 12909 117 8.82 14 Cell membrane;Secreted NA 0 PE1 -NX_P01763 12813 117 5.31 14 Cell membrane;Secreted NA 0 PE1 -NX_P01764 12582 117 8.49 14 Cell membrane;Secreted NA 0 PE1 -NX_P01766 12506 116 6.54 14 Cell membrane;Secreted NA 0 PE1 -NX_P01767 12770 116 8.49 14 Cell membrane;Secreted NA 0 PE1 -NX_P01768 12947 117 9.1 14 Cell membrane;Secreted NA 0 PE1 -NX_P01772 13074 117 9.12 14 Cell membrane;Secreted NA 0 PE1 -NX_P01780 12943 117 6.21 14 Cell membrane;Secreted NA 0 PE1 -NX_P01782 12945 118 6.55 14 Cell membrane;Secreted NA 0 PE1 -NX_P01814 13260 119 6.1 14 Cell membrane;Secreted NA 0 PE1 -NX_P01817 13231 119 8.49 14 Cell membrane;Secreted NA 0 PE1 -NX_P01824 13917 125 9.35 14 Cell membrane;Secreted NA 0 PE1 -NX_P01825 12936 116 9.36 14 Cell membrane;Secreted NA 0 PE1 -NX_P01833 83284 764 5.59 1 Cell membrane;Secreted NA 1 PE1 -NX_P01834 11765 107 6.11 2 Cell membrane;Secreted Immunoglobulin kappa light chain deficiency 0 PE1 -NX_P01848 15717 140 4.58 14 Cell membrane Immunodeficiency 7 1 PE1 -NX_P01850 19769 176 5.8 7 Cell membrane NA 1 PE1 -NX_P01854 47019 428 8.39 14 Cell membrane;Secreted NA 0 PE1 -NX_P01857 36106 330 8.46 14 Cell membrane;Secreted Multiple myeloma 0 PE1 -NX_P01859 35901 326 7.66 14 Cell membrane;Secreted NA 0 PE1 -NX_P01860 41287 377 8.23 14 Cell membrane;Secreted NA 0 PE1 -NX_P01861 35941 327 7.18 14 Cell membrane;Secreted NA 0 PE1 -NX_P01871 49440 453 6.35 14 Cell membrane;Secreted Agammaglobulinemia 1, autosomal recessive 0 PE1 -NX_P01876 37655 353 6.08 14 Cell membrane;Secreted NA 0 PE1 -NX_P01877 36591 340 5.86 14 Cell membrane;Secreted NA 0 PE1 -NX_P01880 42353 384 8.38 14 Cell membrane;Secreted NA 0 PE1 -NX_P01889 40460 362 5.57 6 Membrane NA 1 PE1 -NX_P01891 40909 365 6.22 6 Membrane NA 1 PE1 -NX_P01892 40922 365 6.5 6 Membrane NA 1 PE1 -NX_P01893 40892 362 5.91 6 Cell membrane NA 1 PE5 -NX_P01903 28607 254 4.91 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 -NX_P01906 28033 255 4.78 6 Endosome membrane;Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane NA 1 PE1 -NX_P01909 27805 254 5.44 6 Endosome membrane;Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane NA 1 PE1 -NX_P01911 29966 266 7.64 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 -NX_P01912 30120 266 8.21 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 -NX_P01920 29991 261 6.76 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Golgi apparatus;Cytoplasm;Cell membrane;Endosome membrane NA 1 PE1 -NX_P02008 15637 142 7.94 16 NA NA 0 PE1 -NX_P02042 16055 147 7.84 11 NA NA 0 PE1 -NX_P02100 16203 147 8.67 11 NA NA 0 PE1 -NX_P02144 17184 154 7.14 22 NA NA 0 PE1 -NX_P02452 138941 1464 5.6 17 Cytosol;Cytoplasmic vesicle;Extracellular matrix Ehlers-Danlos syndrome, classic type, 1;Caffey disease;Osteogenesis imperfecta 4;Osteogenesis imperfecta 3;Osteogenesis imperfecta 2;Osteogenesis imperfecta 1;Ehlers-Danlos syndrome, arthrochalasia type, 1;Osteoporosis 0 PE1 -NX_P02458 141785 1487 6.58 12 Nucleoplasm;Extracellular matrix Legg-Calve-Perthes disease;Spondyloepiphyseal dysplasia congenital type;Multiple epiphyseal dysplasia with myopia and conductive deafness;Kniest dysplasia;Avascular necrosis of femoral head, primary, 1;Platyspondylic lethal skeletal dysplasia Torrance type;Osteoarthritis with mild chondrodysplasia;Achondrogenesis 2;Spondyloperipheral dysplasia;Rhegmatogenous retinal detachment autosomal dominant;Czech dysplasia;Spondyloepiphyseal dysplasia, Stanescu type;Stickler syndrome 1;Spondyloepimetaphyseal dysplasia, Strudwick type;Stickler syndrome 1 non-syndromic ocular 0 PE1 -NX_P02461 138564 1466 6.21 2 Extracellular matrix Ehlers-Danlos syndrome, vascular type 0 PE1 -NX_P02462 160611 1669 8.55 13 Nucleoplasm;Cytosol;Basement membrane Porencephaly 1;Hereditary angiopathy with nephropathy aneurysms and muscle cramps;Intracerebral hemorrhage;Tortuosity of retinal arteries;Brain small vessel disease with or without ocular anomalies;Schizencephaly 0 PE1 -NX_P02489 19909 173 5.77 21 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Cataract 9, multiple types 0 PE1 -NX_P02511 20159 175 6.76 11 Cytosol;Cytoplasm;Nucleus;Cell membrane Cataract 16, multiple types;Cardiomyopathy, dilated 1II;Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related;Myopathy, myofibrillar, 2 0 PE1 -NX_P02533 51561 472 5.09 17 Cytoplasm;Nucleus Naegeli-Franceschetti-Jadassohn syndrome;Epidermolysis bullosa simplex, Dowling-Meara type;Epidermolysis bullosa simplex, autosomal recessive 1;Epidermolysis bullosa simplex, Weber-Cockayne type;Dermatopathia pigmentosa reticularis;Epidermolysis bullosa simplex, Koebner type 0 PE1 -NX_P02538 60045 564 8.09 12 NA Pachyonychia congenita 3 0 PE1 -NX_P02545 74139 664 6.57 1 Nucleoplasm;Nucleus speckle;Nucleus;Nucleus envelope;Nucleus lamina Lipodystrophy, familial partial, 2;Lethal tight skin contracture syndrome;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Mandibuloacral dysplasia with type A lipodystrophy;Hutchinson-Gilford progeria syndrome;Muscular dystrophy congenital LMNA-related;Limb-girdle muscular dystrophy 1B;Charcot-Marie-Tooth disease 2B1;Cardiomyopathy, dilated 1A;Heart-hand syndrome Slovenian type;Cardiomyopathy, dilated, with hypergonadotropic hypogonadism;Emery-Dreifuss muscular dystrophy 3, autosomal recessive 0 PE1 -NX_P02549 280014 2419 4.95 1 Cytoskeleton;Cell cortex Spherocytosis 3;Elliptocytosis 2;Hereditary pyropoikilocytosis 0 PE1 -NX_P02585 18122 160 4.06 20 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P02647 30778 267 5.56 11 Cytosol;Cytoplasmic vesicle;Secreted Amyloidosis 8;High density lipoprotein deficiency 2;High density lipoprotein deficiency 1 0 PE1 -NX_P02649 36154 317 5.65 19 Cytoplasmic vesicle;Extracellular space;Extracellular matrix;Secreted Alzheimer disease 2;Hyperlipoproteinemia 3;Lipoprotein glomerulopathy;Familial hypercholesterolemia;Sea-blue histiocyte disease 0 PE1 -NX_P02652 11175 100 6.27 1 Secreted NA 0 PE1 -NX_P02654 9332 83 8.01 19 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_P02655 11284 101 4.72 19 Secreted Hyperlipoproteinemia 1B 0 PE1 -NX_P02656 10852 99 5.23 11 Nucleoplasm;Nucleolus;Cell junction;Secreted Hyperalphalipoproteinemia 2 0 PE1 -NX_P02671 94973 866 5.7 4 Secreted Congenital afibrinogenemia;Dysfibrinogenemia, congenital;Amyloidosis 8 0 PE1 -NX_P02675 55928 491 8.54 4 Endoplasmic reticulum;Secreted Congenital afibrinogenemia;Dysfibrinogenemia, congenital 0 PE1 -NX_P02679 51512 453 5.37 4 Secreted Congenital afibrinogenemia;Dysfibrinogenemia, congenital 0 PE1 -NX_P02686 33117 304 9.79 18 Myelin membrane;Nucleus;Cell membrane NA 0 PE1 -NX_P02689 14909 132 9.84 8 Cytoplasm NA 0 PE1 -NX_P02708 54546 482 5.78 2 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 1A, slow-channel;Multiple pterygium syndrome, lethal type;Myasthenic syndrome, congenital, 1B, fast-channel 4 PE1 -NX_P02724 16331 150 5.29 4 Cell membrane NA 1 PE1 -NX_P02730 101792 911 5.08 17 Basolateral cell membrane;Cell membrane Renal tubular acidosis, distal, with normal red cell morphology;Renal tubular acidosis, distal, with hemolytic anemia;Cryohydrocytosis;Renal tubular acidosis, distal, autosomal dominant;Spherocytosis 4;Ovalocytosis, Southeast Asian 12 PE1 -NX_P02741 25039 224 5.45 1 Secreted NA 0 PE1 -NX_P02743 25387 223 6.1 1 Secreted NA 0 PE1 -NX_P02745 26017 245 9.26 1 Cytosol;Golgi apparatus;Secreted Complement component C1q deficiency 0 PE1 -NX_P02746 26722 253 8.83 1 Secreted Complement component C1q deficiency 0 PE1 -NX_P02747 25774 245 8.61 1 Cytoplasmic vesicle;Secreted Complement component C1q deficiency 0 PE1 -NX_P02748 63173 559 5.43 5 Cytosol;Target cell membrane;Cell membrane;Secreted Macular degeneration, age-related, 15;Complement component 9 deficiency 2 PE1 -NX_P02749 38298 345 8.34 17 Golgi apparatus;Secreted NA 0 PE1 -NX_P02750 38178 347 6.45 19 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P02751 262625 2386 5.46 2 Extracellular matrix Glomerulopathy with fibronectin deposits 2;Spondylometaphyseal dysplasia, corner fracture type 0 PE1 -NX_P02753 23010 201 5.76 10 Secreted Microphthalmia, isolated, with coloboma, 10;Retinal dystrophy, iris coloboma, and comedogenic acne syndrome 0 PE1 -NX_P02760 38999 352 5.95 9 Secreted NA 0 PE1 -NX_P02763 23512 201 4.93 9 Secreted NA 0 PE1 -NX_P02765 39341 367 5.43 3 Golgi apparatus;Secreted Alopecia-mental retardation syndrome 1 0 PE1 -NX_P02766 15887 147 5.52 18 Cytoplasm;Golgi apparatus;Secreted Amyloidosis, transthyretin-related;Carpal tunnel syndrome 1;Hyperthyroxinemia, dystransthyretinemic 0 PE1 -NX_P02768 69367 609 5.92 4 Endoplasmic reticulum;Golgi apparatus;Secreted Hyperthyroxinemia, familial dysalbuminemic;Analbuminemia 0 PE1 -NX_P02771 68678 609 5.48 4 Cytosol;Secreted Alpha-fetoprotein, hereditary persistence;Alpha-fetoprotein deficiency 0 PE1 -NX_P02774 52918 474 5.32 4 Secreted NA 0 PE1 -NX_P02775 13894 128 9.04 4 Secreted NA 0 PE1 -NX_P02776 10845 101 8.93 4 Secreted NA 0 PE1 -NX_P02778 10881 98 9.93 4 Secreted NA 0 PE1 -NX_P02786 84871 760 6.18 3 Endosome;Lysosome;Melanosome;Cell membrane;Secreted Immunodeficiency 46 1 PE1 -NX_P02787 77064 698 6.81 3 Mitochondrion;Secreted Atransferrinemia 0 PE1 -NX_P02788 78182 710 8.5 3 Cytoplasm;Cytoplasmic granule;Nucleus;Secreted NA 0 PE1 -NX_P02790 51676 462 6.55 11 Secreted NA 0 PE1 -NX_P02792 20020 175 5.51 19 Cytosol L-ferritin deficiency;Hyperferritinemia with or without cataract;Neurodegeneration with brain iron accumulation 3 0 PE1 -NX_P02794 21226 183 5.31 11 Cytoskeleton Hemochromatosis 5 0 PE1 -NX_P02795 6042 61 8.23 16 Nucleolus;Nucleus NA 0 PE1 -NX_P02808 7304 62 8.01 4 Secreted NA 0 PE1 -NX_P02810 17016 166 4.63 12 Secreted NA 0 PE1 -NX_P02812 40799 416 11.63 12 Secreted NA 0 PE1 -NX_P02814 8188 79 9.62 4 Secreted NA 0 PE1 -NX_P02818 10963 100 6.56 1 Secreted NA 0 PE1 -NX_P03372 66216 595 8.3 6 Cytoplasmic vesicle;Cytoplasm;Nucleus;Golgi apparatus;Cell membrane Estrogen resistance 0 PE1 -NX_P03886 35661 318 6.11 MT Mitochondrion inner membrane Mitochondrial complex I deficiency;Diabetes mellitus, non-insulin-dependent;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Alzheimer disease mitochondrial;Leber hereditary optic neuropathy 8 PE1 -NX_P03891 38961 347 9.84 MT Mitochondrion inner membrane Alzheimer disease mitochondrial;Leber hereditary optic neuropathy 10 PE1 -NX_P03897 13186 115 4.45 MT Cytosol;Mitochondrion membrane Mitochondrial complex I deficiency;Leigh syndrome 3 PE1 -NX_P03901 10741 98 5.73 MT Mitochondrion;Mitochondrion membrane Leber hereditary optic neuropathy 3 PE1 -NX_P03905 51581 459 9.4 MT Mitochondrion membrane Leber hereditary optic neuropathy with dystonia;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Leber hereditary optic neuropathy 11 PE1 -NX_P03915 67027 603 9.14 MT Mitochondrion inner membrane Mitochondrial complex I deficiency;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Leigh syndrome;Leber hereditary optic neuropathy 15 PE1 -NX_P03923 18622 174 4.18 MT Mitochondrion membrane Leber hereditary optic neuropathy with dystonia;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Leber hereditary optic neuropathy;Mitochondrial complex I deficiency 6 PE1 -NX_P03928 7992 68 9.92 MT Mitochondrion membrane Mitochondrial complex V deficiency, mitochondrial 2;Cardiomyopathy, infantile hypertrophic 1 PE1 -NX_P03950 16550 147 9.73 14 Secretory vesicle lumen;Nucleolus;Nucleus;Secreted Amyotrophic lateral sclerosis 9 0 PE1 -NX_P03951 70109 625 8.47 4 Cytoplasmic vesicle;Secreted Factor XI deficiency 0 PE1 -NX_P03952 71370 638 8.6 4 Secreted Prekallikrein deficiency 0 PE1 -NX_P03956 54007 469 6.47 11 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_P03971 59195 560 7.04 19 Cytoplasmic vesicle;Secreted Persistent Muellerian duct syndrome 1 0 PE1 -NX_P03973 14326 132 9.11 20 Secreted NA 0 PE1 -NX_P03979 13664 118 8.97 7 Cell membrane NA 0 PE1 -NX_P03986 21698 189 5.95 7 Cell membrane NA 1 PE1 -NX_P03989 40428 362 5.54 6 Membrane Spondyloarthropathy 1 1 PE1 -NX_P03999 39135 348 8.91 7 Membrane Tritan color blindness 7 PE1 -NX_P04000 40572 364 8.89 X Membrane Colorblindness, partial, protan series;Blue cone monochromacy 7 PE1 -NX_P04001 40584 364 8.9 X Cell membrane Blue cone monochromacy;Cone dystrophy 5;Colorblindness, partial, deutan series 7 PE1 -NX_P04003 67033 597 7.15 1 Secreted NA 0 PE1 -NX_P04004 54306 478 5.55 17 Cytoplasmic vesicle;Extracellular space;Endoplasmic reticulum NA 0 PE1 -NX_P04035 97476 888 6.33 5 Endoplasmic reticulum membrane NA 7 PE1 -NX_P04040 59756 527 6.9 11 Cytoplasmic vesicle;Cytosol;Peroxisome Acatalasemia 0 PE1 -NX_P04049 73052 648 9.33 3 Mitochondrion;Cytoplasm;Nucleus;Cell membrane;Nucleus speckle LEOPARD syndrome 2;Cardiomyopathy, dilated 1NN;Noonan syndrome 5 0 PE1 -NX_P04053 58536 509 8.66 10 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P04054 16360 148 8.16 12 Cytosol;Secreted NA 0 PE1 -NX_P04062 59716 536 7.29 1 Lysosome membrane Gaucher disease perinatal lethal;Gaucher disease 3C;Gaucher disease 2;Gaucher disease 3;Gaucher disease 1;Parkinson disease;Gaucher disease 0 PE1 -NX_P04066 53689 466 6.37 1 Lysosome Fucosidosis 0 PE1 -NX_P04070 52071 461 5.85 2 Endoplasmic reticulum;Golgi apparatus;Secreted Thrombophilia due to protein C deficiency, autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive 0 PE1 -NX_P04075 39420 364 8.3 16 Cytosol;I band;M line;Nucleus Glycogen storage disease 12 0 PE1 -NX_P04080 11140 98 6.96 21 Cytosol;Cytoplasm;Nucleolus;Nucleus Epilepsy, progressive myoclonic 1 0 PE1 -NX_P04083 38714 346 6.57 9 Extracellular space;Apical cell membrane;Basolateral cell membrane;Secreted;Cytosol;Cytoplasm;Membrane;Cell membrane;Exosome;Endosome membrane;Nucleoplasm;Phagocytic cup;Nucleus;Early endosome;Cytoplasmic vesicle membrane;Secretory vesicle lumen;Cilium;Lateral cell membrane NA 0 PE1 -NX_P04085 24043 211 9.52 7 Cytoplasmic vesicle;Secreted;Microtubule organizing center NA 0 PE1 -NX_P04090 21043 185 8.88 9 Secreted NA 0 PE1 -NX_P04114 515605 4563 6.58 2 Cytoplasmic vesicle;Cytoplasm;Cytosol;Secreted Hypobetalipoproteinemia, familial, 1;Familial ligand-defective apolipoprotein B-100 0 PE1 -NX_P04118 11954 112 7.48 6 Secreted NA 0 PE1 -NX_P04141 16295 144 5.21 5 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P04150 85659 777 6 5 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Mitochondrion;Spindle;Centrosome Glucocorticoid resistance, generalized 0 PE1 -NX_P04155 9150 84 4.29 21 Secreted NA 0 PE1 -NX_P04156 27661 253 9.13 20 Cytosol;Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Nucleus membrane Creutzfeldt-Jakob disease;Spongiform encephalopathy with neuropsychiatric features;Huntington disease-like 1;Fatal familial insomnia;Kuru;Gerstmann-Straussler disease 0 PE1 -NX_P04179 24750 222 8.35 6 Mitochondrion matrix Microvascular complications of diabetes 6 0 PE1 -NX_P04180 49578 440 5.71 16 Nucleoplasm;Secreted Fish-eye disease;Lecithin-cholesterol acyltransferase deficiency 0 PE1 -NX_P04181 48535 439 6.57 10 Mitochondrion matrix;Mitochondrion;Nucleoplasm Hyperornithinemia with gyrate atrophy of choroid and retina 0 PE1 -NX_P04183 25469 234 8.85 17 Cytoplasm NA 0 PE1 -NX_P04196 59578 525 7.09 3 Nucleolus;Secreted Thrombophilia due to histidine-rich glycoprotein deficiency 0 PE1 -NX_P04198 49561 464 5.45 2 Nucleolus;Nucleus Feingold syndrome 1 0 PE1 -NX_P04201 37465 325 8.9 6 Cell membrane NA 7 PE1 -NX_P04211 12451 117 6.52 22 Cell membrane;Secreted NA 0 PE1 -NX_P04216 17935 161 8.96 11 Nucleus;Cell membrane;Endoplasmic reticulum NA 0 PE1 -NX_P04217 54254 495 5.56 19 Secreted NA 0 PE1 -NX_P04222 40861 366 5.97 6 Membrane NA 1 PE1 -NX_P04229 29914 266 7.61 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane Sarcoidosis 1 1 PE1 -NX_P04233 33516 296 8.72 5 Endoplasmic reticulum membrane;Endosome;Golgi apparatus;Lysosome;Cell membrane;trans-Golgi network NA 1 PE1 -NX_P04234 18930 171 5.3 11 Cell membrane Immunodeficiency 19 1 PE1 -NX_P04259 60067 564 8.09 12 NA Pachyonychia congenita 4 0 PE1 -NX_P04264 66039 644 8.15 12 Cell membrane Ichthyosis hystrix, Curth-Macklin type;Keratoderma, palmoplantar, non-epidermolytic;Ichthyosis annular epidermolytic;Keratoderma, palmoplantar, striate 3;Epidermolytic hyperkeratosis 0 PE1 -NX_P04271 10713 92 4.57 21 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_P04275 309265 2813 5.29 12 Secreted;Extracellular matrix von Willebrand disease 1;von Willebrand disease 3;von Willebrand disease 2 0 PE1 -NX_P04278 43779 402 6.22 17 Secreted NA 0 PE1 -NX_P04279 52131 462 9.3 20 Secreted NA 0 PE1 -NX_P04280 38562 392 11.22 12 Secreted NA 0 PE1 -NX_P04350 49586 444 4.78 19 Cytoskeleton Dystonia 4, torsion, autosomal dominant;Leukodystrophy, hypomyelinating, 6 0 PE1 -NX_P04406 36053 335 8.57 12 Cytosol;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Membrane;Cytoskeleton NA 0 PE1 -NX_P04424 51658 464 6.04 7 Cytosol Argininosuccinic aciduria 0 PE1 -NX_P04430 12618 117 8.4 2 Cell membrane;Secreted NA 0 PE1 -NX_P04432 12737 117 8.91 2 Cell membrane;Secreted NA 0 PE1 -NX_P04433 12575 115 4.85 2 Cell membrane;Secreted NA 0 PE1 -NX_P04435 13107 115 7.7 7 Cell membrane NA 0 PE1 -NX_P04437 13438 119 6.03 14 Cell membrane NA 0 PE1 -NX_P04439 40841 365 5.66 6 Membrane NA 1 PE1 -NX_P04440 29159 258 8.83 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Nucleus;Cell junction NA 1 PE1 -NX_P04553 6823 51 12.08 16 Nucleus;Chromosome NA 0 PE1 -NX_P04554 13051 102 11.9 16 Nucleus;Chromosome NA 0 PE1 -NX_P04626 137910 1255 5.58 17 Cytosol;Cytoplasm;Perinuclear region;Nucleus;Cell membrane Ovarian cancer;Gastric cancer;Lung cancer;Glioma 1 PE1 -NX_P04628 40982 370 9.28 12 Secreted;Extracellular matrix Osteogenesis imperfecta 15;Osteoporosis 0 PE1 -NX_P04629 87497 796 6.17 1 Cytosol;Early endosome membrane;Cell membrane;Cytoplasmic vesicle;Late endosome membrane;Recycling endosome membrane Congenital insensitivity to pain with anhidrosis 1 PE1 -NX_P04632 28316 268 5.05 19 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_P04637 43653 393 6.33 17 PML body;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Nucleus;Mitochondrion matrix Papilloma of choroid plexus;Basal cell carcinoma 7;Li-Fraumeni syndrome;Adrenocortical carcinoma;Esophageal cancer;Lung cancer;Squamous cell carcinoma of the head and neck 0 PE1 -NX_P04731 6120 61 8.38 16 NA NA 0 PE1 -NX_P04732 6014 61 8.38 16 Nucleoplasm NA 0 PE1 -NX_P04733 6086 61 8.23 16 NA NA 0 PE1 -NX_P04745 57768 511 6.47 1 Secreted NA 0 PE1 -NX_P04746 57707 511 6.6 1 Extracellular space NA 0 PE1 -NX_P04792 22783 205 5.98 7 Cytosol;Cytoplasm;Spindle;Nucleus;Cell membrane Charcot-Marie-Tooth disease 2F;Neuronopathy, distal hereditary motor, 2B 0 PE1 -NX_P04798 58165 512 8.61 15 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P04808 21146 185 8.97 9 Secreted NA 0 PE2 -NX_P04818 35716 313 6.51 18 Mitochondrion inner membrane;Cytoplasm;Mitochondrion;Mitochondrion matrix;Nucleus NA 0 PE1 -NX_P04839 65336 570 8.9 X Cell membrane Immunodeficiency 34;Granulomatous disease, chronic, X-linked 6 PE1 -NX_P04843 68569 607 5.96 3 Endoplasmic reticulum membrane;Melanosome;Endoplasmic reticulum NA 1 PE1 -NX_P04844 69284 631 5.44 20 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 3 PE1 -NX_P04899 40451 355 5.34 3 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Membrane;Centrosome NA 0 PE1 -NX_P04908 14135 130 11.05 6 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_P04920 137009 1241 5.9 7 Cytosol;Nucleus speckle;Cell membrane;Membrane NA 10 PE1 -NX_P04921 13811 128 4.68 2 Cytoplasmic vesicle;Cytosol;Cell membrane NA 1 PE1 -NX_P05000 22319 195 9.18 9 Secreted NA 0 PE1 -NX_P05013 22141 189 6.9 9 Secreted NA 0 PE1 -NX_P05014 21808 189 5.76 9 Secreted NA 0 PE1 -NX_P05015 21711 189 6.31 9 Secreted NA 0 PE2 -NX_P05019 21841 195 9.78 12 Secreted Insulin-like growth factor I deficiency 0 PE1 -NX_P05023 112896 1023 5.33 1 Melanosome;Sarcolemma;Cell membrane Charcot-Marie-Tooth disease 2DD 10 PE1 -NX_P05026 35061 303 8.74 1 Cell membrane;Sarcolemma NA 1 PE1 -NX_P05060 78276 677 5.02 20 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P05062 39473 364 8.01 9 Centriolar satellite Hereditary fructose intolerance 0 PE1 -NX_P05067 86943 770 4.73 21 Perikaryon;Golgi apparatus;Membrane;Clathrin-coated pit;Cell membrane;Cytoplasmic vesicle;Early endosome;Growth cone Alzheimer disease 1;Cerebral amyloid angiopathy, APP-related 1 PE1 -NX_P05089 34735 322 6.72 6 Cytoplasm;Cytoplasmic granule Argininemia 0 PE1 -NX_P05090 21276 189 5.06 3 Cell membrane;Secreted NA 0 PE1 -NX_P05091 56381 517 6.63 12 Mitochondrion matrix NA 0 PE1 -NX_P05093 57371 508 8.72 10 Membrane Adrenal hyperplasia 5 0 PE1 -NX_P05106 87058 788 5.09 17 Focal adhesion;Lamellipodium membrane;Cell membrane Bleeding disorder, platelet-type 16;Glanzmann thrombasthenia 1 PE1 -NX_P05107 84782 769 6.66 21 Membrane raft;Cell membrane Leukocyte adhesion deficiency 1 1 PE1 -NX_P05108 60102 521 8.89 15 Mitochondrion inner membrane Adrenal insufficiency, congenital, with 46,XY sex reversal 0 PE1 -NX_P05109 10835 93 6.51 1 Cytoplasm;Cytoskeleton;Cell membrane;Secreted NA 0 PE1 -NX_P05111 39670 366 8.29 2 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P05112 17492 153 9.17 5 Secreted Ischemic stroke 0 PE1 -NX_P05113 15238 134 7.81 5 Secreted NA 0 PE1 -NX_P05114 10659 100 9.6 21 Cytoplasm;Nucleus NA 0 PE1 -NX_P05120 46596 415 5.46 18 Cytoplasm;Extracellular space NA 0 PE1 -NX_P05121 45060 402 6.68 7 Cytosol;Secreted Plasminogen activator inhibitor-1 deficiency 0 PE1 -NX_P05129 78448 697 7.27 19 Cytoplasm;Dendrite;Perinuclear region;Cell membrane;Synaptosome Spinocerebellar ataxia 14 0 PE1 -NX_P05141 32852 298 9.71 X Cytoplasm;Mitochondrion inner membrane NA 6 PE1 -NX_P05154 45675 406 9.3 14 Mitochondrion;Extracellular space NA 0 PE1 -NX_P05155 55154 500 6.09 11 Secreted Hereditary angioedema 0 PE1 -NX_P05156 65750 583 7.72 4 Extracellular space Hemolytic uremic syndrome atypical 3;Macular degeneration, age-related, 13;Complement factor I deficiency 0 PE1 -NX_P05160 75511 661 6.01 1 Secreted Factor XIII subunit B deficiency 0 PE1 -NX_P05161 17888 165 6.83 1 Cytoplasm;Secreted Immunodeficiency 38, with basal ganglia calcification 0 PE1 -NX_P05162 14644 132 5.93 22 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_P05164 83869 745 9.19 17 Cytoplasmic vesicle;Nucleus;Lysosome Myeloperoxidase deficiency 0 PE1 -NX_P05165 80059 728 7.24 13 Mitochondrion matrix Propionic acidemia type I 0 PE1 -NX_P05166 58216 539 7.56 3 Mitochondrion matrix Propionic acidemia type II 0 PE1 -NX_P05177 58407 516 9.18 15 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P05181 56849 493 8.28 10 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P05186 57305 524 6.19 1 Cytosol;Cell membrane Hypophosphatasia childhood type;Hypophosphatasia;Hypophosphatasia infantile type 0 PE1 -NX_P05187 57954 535 5.86 2 Cell membrane NA 1 PE1 -NX_P05198 36112 315 5.02 14 Stress granule;Nucleoplasm;Cytosol NA 0 PE1 -NX_P05204 9393 90 10 1 Cytoplasm;Nucleus NA 0 PE1 -NX_P05230 17460 155 6.52 5 Cytosol;Nucleus;Secreted;Cell cortex;Cytoplasm NA 0 PE1 -NX_P05231 23718 212 6.17 7 Cytoplasmic vesicle;Secreted Rheumatoid arthritis systemic juvenile 0 PE1 -NX_P05305 24425 212 9.52 6 Nucleolus;Nucleus;Golgi apparatus;Secreted Auriculocondylar syndrome 3;Question mark ears, isolated 0 PE1 -NX_P05362 57825 532 8.31 19 Cytosol;Cell membrane;Membrane NA 1 PE1 -NX_P05386 11514 114 4.26 15 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_P05387 11665 115 4.42 11 Mitochondrion;Cytoplasm NA 0 PE1 -NX_P05388 34274 317 5.72 12 Cytoplasm;Nucleus NA 0 PE1 -NX_P05408 23730 212 5.62 15 Secreted NA 0 PE1 -NX_P05412 35676 331 8.9 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_P05413 14858 133 6.29 1 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_P05423 44396 398 6.51 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_P05451 18731 166 5.65 2 Secreted NA 0 PE1 -NX_P05452 22537 202 5.52 3 Secreted NA 0 PE1 -NX_P05455 46837 408 6.68 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_P05496 14277 136 9.81 17 Mitochondrion;Mitochondrion membrane NA 2 PE1 -NX_P05534 40689 365 5.91 6 Membrane NA 1 PE1 -NX_P05538 30387 268 6.32 6 Endoplasmic reticulum membrane;Endosome membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane NA 1 PE1 -NX_P05543 46325 415 5.87 X Secreted NA 0 PE1 -NX_P05546 57071 499 6.41 22 Cytoplasmic vesicle Thrombophilia due to heparin cofactor 2 deficiency 0 PE1 -NX_P05549 48062 437 8.1 6 Nucleoplasm;Nucleus Branchiooculofacial syndrome 0 PE1 -NX_P05556 88415 798 5.27 10 Invadopodium membrane;Melanosome;Ruffle membrane;Cleavage furrow;Cell membrane;Focal adhesion;Endoplasmic reticulum;Sarcolemma;Lamellipodium;Cell surface;Recycling endosome;Cell junction;Ruffle NA 1 PE1 -NX_P05771 76869 671 6.57 16 Cytosol;Cytoplasm;Nucleus;Nucleoplasm;Membrane NA 0 PE1 -NX_P05783 48058 430 5.34 12 Cytosol;Cytoplasm;Perinuclear region;Nucleolus Cirrhosis 0 PE1 -NX_P05787 53704 483 5.52 12 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus matrix Cirrhosis 0 PE1 -NX_P05813 25150 215 5.82 17 NA Cataract 10, multiple types 0 PE1 -NX_P05814 25382 226 5.52 4 Secreted NA 0 PE1 -NX_P05937 30025 261 4.7 8 Cytoplasmic vesicle NA 0 PE1 -NX_P05976 21145 194 4.97 2 NA NA 0 PE1 -NX_P05981 45011 417 7.8 19 Apical cell membrane;Cell membrane NA 1 PE1 -NX_P05997 144910 1499 6.07 2 Extracellular matrix Ehlers-Danlos syndrome, classic type, 2 0 PE1 -NX_P06028 9782 91 9.43 4 Cell membrane NA 1 PE1 -NX_P06126 37077 327 6.3 1 Endosome membrane;Membrane raft;Cell membrane NA 1 PE1 -NX_P06127 54578 495 8.59 11 Cell membrane NA 1 PE1 -NX_P06132 40787 367 5.77 1 Cytosol;Cytoplasm;Nucleoplasm Familial porphyria cutanea tarda;Hepatoerythropoietic porphyria 0 PE1 -NX_P06133 60513 528 8.7 4 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_P06213 156333 1382 5.83 19 Cytoplasmic vesicle;Cell membrane Leprechaunism;Insulin-resistant diabetes mellitus with acanthosis nigricans type A;Rabson-Mendenhall syndrome;Diabetes mellitus, non-insulin-dependent;Familial hyperinsulinemic hypoglycemia 5 1 PE1 -NX_P06239 58001 509 5.23 1 Cytoplasm;Cell membrane;Golgi apparatus Immunodeficiency 22 0 PE1 -NX_P06241 60762 537 6.23 6 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_P06276 68418 602 7.12 3 Secreted Butyrylcholinesterase deficiency 0 PE1 -NX_P06280 48767 429 5.35 X Lysosome Fabry disease 0 PE1 -NX_P06307 12669 115 9.18 3 Secreted NA 0 PE1 -NX_P06310 13185 120 8.71 2 Cell membrane;Secreted NA 0 PE1 -NX_P06312 13380 121 5.09 2 Cell membrane;Secreted NA 0 PE1 -NX_P06315 12728 115 4.21 2 Cell membrane;Secreted NA 0 PE1 -NX_P06331 13815 123 9.39 14 Cell membrane;Secreted NA 0 PE1 -NX_P06340 27599 250 5.57 6 Endosome membrane;Lysosome membrane NA 1 PE1 -NX_P06396 85698 782 5.9 9 Cytoskeleton;Secreted Amyloidosis 5 0 PE1 -NX_P06400 106159 928 8.13 13 Nucleoplasm;Nucleus Osteogenic sarcoma;Bladder cancer;Childhood cancer retinoblastoma 0 PE1 -NX_P06401 98981 933 6.09 11 Cytoplasm;Nucleus;Mitochondrion outer membrane NA 0 PE1 -NX_P06454 12203 111 3.69 2 Nucleus NA 0 PE1 -NX_P06493 34095 297 8.38 10 Cytosol;Cytoplasm;Nucleus;Mitochondrion;Spindle;Centrosome NA 0 PE1 -NX_P06576 56560 529 5.26 12 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P06681 83268 752 7.23 6 Secreted Complement component 2 deficiency 0 PE1 -NX_P06702 13242 114 5.71 1 Secreted;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Cytoskeleton;Cell junction NA 0 PE1 -NX_P06703 10180 90 5.32 1 Cytosol;Cytoplasm;Nucleus envelope;Cell membrane NA 0 PE1 -NX_P06727 45399 396 5.28 11 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P06729 39448 351 9.66 1 Cell membrane NA 1 PE1 -NX_P06730 25097 217 5.79 4 Cytosol;Cytoplasm;P-body Autism 19 0 PE1 -NX_P06731 76795 702 5.59 19 Cell surface;Apical cell membrane;Cell membrane NA 0 PE1 -NX_P06732 43101 381 6.77 19 Cytoplasm NA 0 PE1 -NX_P06733 47169 434 7.01 1 Cytoplasm;M line;Nucleus;Cell membrane NA 0 PE1 -NX_P06734 36469 321 5.38 19 Cell membrane;Secreted NA 1 PE1 -NX_P06737 97149 847 6.71 14 Cytosol;Cell membrane Glycogen storage disease 6 0 PE1 -NX_P06744 63147 558 8.42 19 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane;Secreted Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency 0 PE1 -NX_P06746 38178 335 9.01 8 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_P06748 32575 294 4.64 5 Nucleoplasm;Nucleolus;Nucleus;Centrosome NA 0 PE1 -NX_P06753 32950 285 4.68 1 Cytoplasm;Cytoskeleton Nemaline myopathy 1;Cap myopathy 1;Myopathy, congenital, with fiber-type disproportion 0 PE1 -NX_P06756 116038 1048 5.45 2 Cytosol;Focal adhesion;Membrane NA 1 PE1 -NX_P06850 21422 196 10 8 Secreted NA 0 PE1 -NX_P06858 53162 475 8.37 8 Cytoplasmic vesicle;Cell membrane;Secreted Lipoprotein lipase deficiency 0 PE1 -NX_P06865 60703 529 5.04 15 Lysosome GM2-gangliosidosis 1 0 PE1 -NX_P06870 28890 262 4.68 19 NA NA 0 PE1 -NX_P06881 13899 128 9.18 11 Secreted NA 0 PE1 -NX_P06899 13904 126 10.31 6 Nucleus;Chromosome NA 0 PE1 -NX_P07093 44002 398 9.35 2 Extracellular space NA 0 PE1 -NX_P07098 45238 398 6.83 10 Secreted NA 0 PE1 -NX_P07099 52949 455 6.77 1 Endoplasmic reticulum membrane;Microsome membrane Familial hypercholanemia 1 PE1 -NX_P07101 58600 528 5.9 11 NA Segawa syndrome autosomal recessive 0 PE1 -NX_P07108 10044 87 6.12 2 Golgi apparatus;Endoplasmic reticulum NA 0 PE1 -NX_P07148 14208 127 6.6 2 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_P07195 36638 334 5.71 12 Cytosol;Cytoplasm Lactate dehydrogenase B deficiency 0 PE1 -NX_P07196 61517 543 4.64 8 Nucleus speckle;Cytoskeleton Charcot-Marie-Tooth disease 2E;Charcot-Marie-Tooth disease 1F 0 PE1 -NX_P07197 102472 916 4.9 8 Cytoskeleton NA 0 PE1 -NX_P07199 65171 599 4.49 20 Centromere;Nucleus NA 0 PE1 -NX_P07202 102963 933 6.32 2 Cell surface;Membrane Thyroid dyshormonogenesis 2A 1 PE1 -NX_P07203 22088 203 6.15 3 Cytosol;Cytoplasm NA 0 PE1 -NX_P07204 60329 575 4.78 20 Nucleoplasm;Cytosol;Membrane Hemolytic uremic syndrome atypical 6;Thrombophilia due to thrombomodulin defect 1 PE1 -NX_P07205 44796 417 8.74 6 Cytoplasm NA 0 PE1 -NX_P07225 75123 676 5.48 3 Secreted Thrombophilia due to protein S deficiency, autosomal recessive;Thrombophilia due to protein S deficiency, autosomal dominant 0 PE1 -NX_P07237 57116 508 4.76 17 Endoplasmic reticulum lumen;Melanosome;Cell membrane;Endoplasmic reticulum Cole-Carpenter syndrome 1 0 PE1 -NX_P07288 28741 261 7.61 19 Secreted NA 0 PE1 -NX_P07305 20863 194 10.84 22 Cytoskeleton;Nucleus;Chromosome;Golgi apparatus NA 0 PE1 -NX_P07306 33186 291 5.28 17 Cytoplasmic vesicle;Membrane;Cell junction;Secreted NA 1 PE1 -NX_P07307 35092 311 5.81 17 Cell membrane;Endoplasmic reticulum;Membrane NA 1 PE1 -NX_P07311 11261 99 9.3 14 Cytosol;Nucleus NA 0 PE1 -NX_P07315 20879 174 6.88 2 NA Cataract 2, multiple types 0 PE1 -NX_P07316 20908 175 6.88 2 NA Cataract 39, multiple types 0 PE1 -NX_P07320 20738 174 7 2 Cytoskeleton;Cell membrane Cataract 4, multiple types 0 PE1 -NX_P07327 39859 375 8.26 4 Cytoplasm NA 0 PE1 -NX_P07332 93497 822 6.27 15 Golgi apparatus;Cytosol;Cell membrane;Cytoplasmic vesicle;Focal adhesion;Nucleus;Cytoskeleton NA 0 PE1 -NX_P07333 107984 972 5.93 5 Cytoplasmic vesicle;Cell membrane Leukoencephalopathy, diffuse hereditary, with spheroids 1 PE1 -NX_P07339 44552 412 6.1 11 Extracellular space;Melanosome;Lysosome Ceroid lipofuscinosis, neuronal, 10 0 PE1 -NX_P07355 38604 339 7.57 15 Basement membrane;Melanosome NA 0 PE1 -NX_P07357 65163 584 6.07 1 Cell membrane;Secreted Complement component 8 deficiency, 1 0 PE1 -NX_P07358 67047 591 8.5 1 Secreted Complement component 8 deficiency, 2 0 PE1 -NX_P07359 71540 652 5.87 17 Membrane Non-arteritic anterior ischemic optic neuropathy;Pseudo-von Willebrand disease;Bernard-Soulier syndrome;Bernard-Soulier syndrome A2, autosomal dominant 1 PE1 -NX_P07360 22277 202 8.49 9 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_P07384 81890 714 5.49 11 Cytosol;Cytoplasm;Cell membrane Spastic paraplegia 76, autosomal recessive 0 PE1 -NX_P07437 49671 444 4.78 6 Cytoplasm;Cytoskeleton Cortical dysplasia, complex, with other brain malformations 6;Skin creases, congenital symmetric circumferential, 1 0 PE1 -NX_P07438 6115 61 8.47 16 NA NA 0 PE1 -NX_P07451 29557 260 6.86 8 Cytoplasm NA 0 PE1 -NX_P07476 68479 585 4.62 1 Cytosol;Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_P07477 26558 247 6.08 7 Extracellular space Pancreatitis, hereditary 0 PE1 -NX_P07478 26488 247 4.78 7 Extracellular space NA 0 PE1 -NX_P07492 16213 148 10.22 18 Secretory vesicle lumen;Secreted NA 0 PE1 -NX_P07498 20305 182 8.97 4 Secreted NA 0 PE1 -NX_P07510 57883 517 5.86 2 Postsynaptic cell membrane;Cell membrane Multiple pterygium syndrome, lethal type;Multiple pterygium syndrome, Escobar variant 4 PE1 -NX_P07550 46459 413 6.59 5 Cytosol;Cell membrane;Early endosome NA 7 PE1 -NX_P07585 39747 359 8.75 12 Extracellular matrix Corneal dystrophy, congenital stromal 0 PE1 -NX_P07602 58113 524 5.06 10 Cytoplasmic vesicle;Lysosome;Secreted Metachromatic leukodystrophy due to saposin-B deficiency;Combined saposin deficiency;Krabbe disease, atypical, due to saposin A deficiency;Gaucher disease, atypical, due to saposin C deficiency 0 PE1 -NX_P07686 63111 556 6.29 5 Lysosome GM2-gangliosidosis 2 0 PE1 -NX_P07711 37564 333 5.32 9 Lysosome NA 0 PE1 -NX_P07737 15054 140 8.44 17 Cytosol;Cytoplasm;Cytoskeleton Amyotrophic lateral sclerosis 18 0 PE1 -NX_P07738 30005 259 6.1 7 Nucleolus Bisphosphoglycerate mutase deficiency 0 PE1 -NX_P07741 19608 180 5.78 16 Cytosol;Cytoplasm;Nucleoplasm Adenine phosphoribosyltransferase deficiency 0 PE1 -NX_P07766 23147 207 6.32 11 Cell membrane Immunodeficiency 18 1 PE1 -NX_P07814 170591 1512 7.02 1 Cytosol;Cytoplasm;Membrane Leukodystrophy, hypomyelinating, 15 0 PE1 -NX_P07858 37822 339 5.88 8 Cytoplasmic vesicle;Extracellular space;Nucleolus;Melanosome;Lysosome NA 0 PE1 -NX_P07864 36311 332 7.08 11 Cytoplasm NA 0 PE1 -NX_P07900 84660 732 4.94 14 Cytosol;Cytoplasm;Nucleus;Cell membrane;Melanosome NA 0 PE1 -NX_P07902 43363 379 6.49 9 Cytosol Galactosemia 0 PE1 -NX_P07910 33670 306 4.95 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_P07911 69761 640 5.05 16 Cilium membrane;Apical cell membrane;Basolateral cell membrane;Secreted Medullary cystic kidney disease 2;Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Familial juvenile hyperuricemic nephropathy 1 0 PE1 -NX_P07919 10739 91 4.39 1 Mitochondrion inner membrane NA 0 PE1 -NX_P07942 198038 1786 4.83 7 Basement membrane Lissencephaly 5 0 PE1 -NX_P07947 60801 543 6.32 18 Cytosol;Centrosome;Cell membrane NA 0 PE1 -NX_P07948 58574 512 6.7 8 Golgi apparatus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Perinuclear region;Nucleus;Membrane NA 0 PE1 -NX_P07949 124319 1114 6.17 10 Endosome membrane;Cytosol;Cytoplasmic vesicle;Cell membrane Pheochromocytoma;Colorectal cancer;Congenital central hypoventilation syndrome;Medullary thyroid carcinoma;Hirschsprung disease 1;Multiple neoplasia 2B;Multiple neoplasia 2A 1 PE1 -NX_P07951 32851 284 4.66 9 Cytoplasm;Cytoskeleton Arthrogryposis, distal, 2B;Cap myopathy 2;Arthrogryposis, distal, 1A;Nemaline myopathy 4 0 PE1 -NX_P07954 54637 510 8.85 1 Mitochondrion;Cytoplasm Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer 0 PE1 -NX_P07988 42117 381 5.27 2 Surface film Pulmonary surfactant metabolism dysfunction 1;Respiratory distress syndrome in premature infants 0 PE1 -NX_P07992 32562 297 5.9 19 Nucleoplasm;Cytoplasm;Nucleus Cerebro-oculo-facio-skeletal syndrome 4 0 PE1 -NX_P07996 129383 1170 4.71 15 Secreted;Extracellular matrix;Endoplasmic reticulum;Sarcoplasmic reticulum;Cell membrane;Cell surface NA 0 PE1 -NX_P07998 17644 156 9.1 14 Cytoplasmic vesicle;Nucleoplasm;Secreted NA 0 PE1 -NX_P08034 32025 283 9.19 X Gap junction;Cell membrane Charcot-Marie-Tooth disease, X-linked dominant, 1;Dejerine-Sottas syndrome 4 PE1 -NX_P08047 80693 785 6.94 12 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P08048 90505 801 5.65 Y Nucleus NA 0 PE1 -NX_P08069 154793 1367 5.58 15 Cytoplasmic vesicle;Cell membrane Insulin-like growth factor 1 resistance 1 PE1 -NX_P08100 38893 348 6.21 3 Photoreceptor outer segment;Cell membrane;Membrane Retinitis pigmentosa 4;Night blindness, congenital stationary, autosomal dominant 1 7 PE1 -NX_P08118 12865 114 5.36 10 Secreted Prostate cancer, hereditary, 13 0 PE1 -NX_P08123 129314 1366 9.08 7 Endoplasmic reticulum;Extracellular matrix Osteogenesis imperfecta 4;Osteogenesis imperfecta 3;Osteogenesis imperfecta 2;Osteogenesis imperfecta 1;Ehlers-Danlos syndrome, arthrochalasia type, 2;Ehlers-Danlos syndrome, cardiac valvular type 0 PE1 -NX_P08133 75873 673 5.42 5 Cytoplasm;Melanosome NA 0 PE1 -NX_P08134 22006 193 6.2 1 Cell membrane;Cleavage furrow NA 0 PE1 -NX_P08138 45183 427 4.59 17 Nucleoplasm;Cell membrane;Membrane NA 1 PE1 -NX_P08151 117904 1106 6.98 12 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P08172 51715 466 9.07 7 Postsynaptic cell membrane;Cell membrane Major depressive disorder 7 PE1 -NX_P08173 53049 479 9.87 11 Nucleus;Postsynaptic cell membrane;Golgi apparatus;Cell membrane NA 7 PE1 -NX_P08174 41400 381 7.79 1 Cytoplasmic vesicle;Midbody ring;Cell membrane;Secreted Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 0 PE1 -NX_P08183 141479 1280 9.06 7 Cytosol;Nucleoplasm;Focal adhesion;Cell membrane Inflammatory bowel disease 13 12 PE1 -NX_P08185 45141 405 5.64 14 Secreted Corticosteroid-binding globulin deficiency 0 PE1 -NX_P08195 67994 630 4.89 11 Cytosol;Nucleus;Apical cell membrane;Melanosome;Cell membrane NA 1 PE1 -NX_P08217 28888 269 8.8 1 Secreted NA 0 PE1 -NX_P08218 28810 269 6.48 1 Secreted NA 0 PE1 -NX_P08235 107082 984 7.22 4 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Nucleoplasm Pseudohypoaldosteronism 1, autosomal dominant;Early-onset hypertension with severe exacerbation in pregnancy 0 PE1 -NX_P08236 74732 651 6.54 7 Cytoplasmic vesicle;Lysosome Mucopolysaccharidosis 7 0 PE1 -NX_P08237 85183 780 8.23 12 Cytoplasm;Endoplasmic reticulum Glycogen storage disease 7 0 PE1 -NX_P08238 83264 724 4.97 6 Cytoplasm;Nucleus;Melanosome;Cell membrane;Secreted NA 0 PE1 -NX_P08240 69811 638 9.07 11 Endoplasmic reticulum membrane NA 0 PE1 -NX_P08243 64370 561 6.39 7 Cytosol Asparagine synthetase deficiency 0 PE1 -NX_P08246 28518 267 9.71 19 NA Cyclic haematopoiesis;Neutropenia, severe congenital 1, autosomal dominant 0 PE1 -NX_P08247 33845 313 4.66 X Synaptosome;Synaptic vesicle membrane Mental retardation, X-linked 96 4 PE1 -NX_P08253 73882 660 5.26 16 Extracellular matrix;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Membrane;Mitochondrion Multicentric osteolysis, nodulosis, and arthropathy 0 PE1 -NX_P08254 53977 477 5.77 11 Cytoplasmic vesicle;Extracellular matrix Coronary heart disease 6 0 PE1 -NX_P08263 25631 222 8.91 6 Cytoplasm NA 0 PE1 -NX_P08294 25851 240 6.13 4 Extracellular space NA 0 PE1 -NX_P08311 28837 255 11.19 14 Cell surface NA 0 PE1 -NX_P08319 40222 380 8.25 4 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P08397 39330 361 6.68 11 Cytoplasm;Lipid droplet Acute intermittent porphyria 0 PE1 -NX_P08473 85514 750 5.54 3 Cell membrane Charcot-Marie-Tooth disease 2T;Spinocerebellar ataxia 43 1 PE1 -NX_P08476 47442 426 8.3 7 Secreted NA 0 PE1 -NX_P08493 12353 103 9.71 12 Secreted Keutel syndrome 0 PE1 -NX_P08514 113377 1039 5.21 17 Membrane Bleeding disorder, platelet-type 16;Glanzmann thrombasthenia 1 PE1 -NX_P08519 501319 4548 5.58 6 NA NA 0 PE1 -NX_P08559 43296 390 8.35 X Mitochondrion matrix Pyruvate dehydrogenase E1-alpha deficiency 0 PE1 -NX_P08567 40125 350 8.51 2 Nucleolus NA 0 PE1 -NX_P08571 40076 375 5.84 5 Cytoplasmic vesicle;Cell membrane;Membrane raft;Golgi apparatus;Secreted NA 0 PE1 -NX_P08572 167553 1712 8.89 13 Cytoplasmic vesicle;Basement membrane Intracerebral hemorrhage;Porencephaly 2 0 PE1 -NX_P08574 35422 325 9.15 8 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 6 1 PE1 -NX_P08575 147486 1306 5.77 1 Membrane raft;Cell membrane Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive;Multiple sclerosis 1 PE1 -NX_P08579 25486 225 9.72 20 Nucleus speckle;Nucleus NA 0 PE1 -NX_P08581 155541 1390 7.02 7 Cytosol;Secreted;Cell membrane;Membrane Deafness, autosomal recessive, 97;Hepatocellular carcinoma;Osteofibrous dysplasia;Renal cell carcinoma papillary 1 PE1 -NX_P08582 80215 738 5.61 3 Cell membrane NA 0 PE1 -NX_P08588 51323 477 9.23 10 Cell membrane;Early endosome NA 7 PE1 -NX_P08590 21932 195 5.03 3 Mitochondrion;Nucleolus Cardiomyopathy, familial hypertrophic 8 0 PE1 -NX_P08603 139096 1231 6.21 1 Secreted Complement factor H deficiency;Hemolytic uremic syndrome atypical 1;Basal laminar drusen;Macular degeneration, age-related, 4 0 PE1 -NX_P08620 22048 206 9.73 11 Secreted NA 0 PE1 -NX_P08621 51557 437 9.94 19 Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_P08631 59600 526 6.27 20 Podosome membrane;Golgi apparatus;Lysosome;Nucleoplasm;Secretory vesicle;Cell membrane;Cytoplasmic vesicle;Cytosol;Focal adhesion;Nucleus;Membrane;Caveola;Cytoskeleton NA 0 PE1 -NX_P08637 29089 254 8.2 1 Cell membrane;Secreted Immunodeficiency 20 1 PE1 -NX_P08648 114536 1049 5.5 12 Cell surface;Focal adhesion;Membrane NA 1 PE1 -NX_P08651 55675 508 8.62 19 Nucleolus;Nucleus NA 0 PE1 -NX_P08670 53652 466 5.06 10 Cytoplasm;Cytoskeleton;Nucleus matrix;Golgi apparatus;Cell membrane Cataract 30, multiple types 0 PE1 -NX_P08684 57343 503 8.27 7 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_P08686 55887 494 7.71 6 Endoplasmic reticulum membrane;Microsome membrane Adrenal hyperplasia 3 0 PE1 -NX_P08697 54566 491 5.87 17 Cytoplasmic vesicle;Nucleoplasm;Secreted Alpha-2-plasmin inhibitor deficiency 0 PE1 -NX_P08700 17233 152 8.69 5 Secreted NA 0 PE1 -NX_P08708 15550 135 9.85 15 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum Diamond-Blackfan anemia 4 0 PE1 -NX_P08709 51594 466 6.92 13 Mitochondrion;Secreted Factor VII deficiency 0 PE1 -NX_P08727 44106 400 5.05 17 Cytoskeleton NA 0 PE1 -NX_P08729 51386 469 5.4 12 Cytoplasm NA 0 PE1 -NX_P08754 40532 354 5.5 1 Cytoplasm;Centrosome;Cell membrane;Membrane Auriculocondylar syndrome 1 0 PE1 -NX_P08758 35937 320 4.94 4 Cytoplasm;Nucleus;Nucleus membrane Pregnancy loss, recurrent, 3 0 PE1 -NX_P08779 51268 473 4.98 17 NA Keratoderma, palmoplantar, non-epidermolytic, focal 1;Pachyonychia congenita 1 0 PE1 -NX_P08833 27904 259 5.11 7 Golgi apparatus;Secreted NA 0 PE1 -NX_P08842 65492 583 7.6 X Endoplasmic reticulum membrane Ichthyosis, X-linked 2 PE1 -NX_P08861 29263 270 5.85 1 NA NA 0 PE1 -NX_P08865 32854 295 4.79 3 Cytosol;Cytoplasm;Nucleus;Cell membrane Asplenia, isolated congenital 0 PE1 -NX_P08887 51548 468 8.56 1 Basolateral cell membrane;Secreted NA 1 PE1 -NX_P08908 46107 422 9.13 5 Cell membrane Periodic fever, menstrual cycle-dependent 7 PE1 -NX_P08910 48315 425 6.24 15 Cytosol;Nucleoplasm;Flagellum membrane;Cell membrane NA 1 PE1 -NX_P08912 60074 532 9.39 15 Postsynaptic cell membrane;Cell membrane NA 7 PE2 -NX_P08913 48957 450 9.8 10 Cell membrane NA 7 PE1 -NX_P08922 263915 2347 5.76 6 Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_P08949 13252 121 11.87 15 Cytoplasmic vesicle;Nucleus;Cell membrane;Secreted NA 0 PE1 -NX_P08962 25637 238 8.14 12 Lysosome membrane;Melanosome;Lysosome;Cytoplasm;Late endosome membrane;Cell membrane;Cytoplasmic vesicle;Nucleus;Multivesicular body;Cell surface;Exosome NA 4 PE1 -NX_P08F94 446702 4074 6.12 6 Cytoplasm;Cell membrane;Spindle;Centromere;Cilium;Cilium basal body Polycystic kidney disease 4, with or without polycystic liver disease 1 PE1 -NX_P09001 38633 348 9.52 3 Mitochondrion Combined oxidative phosphorylation deficiency 9 0 PE1 -NX_P09012 31280 282 9.83 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_P09016 27885 255 9.44 2 Nucleus;Cell junction NA 0 PE1 -NX_P09017 29811 264 9.24 12 Nucleus NA 0 PE1 -NX_P09038 30770 288 11.18 4 Nucleoplasm;Nucleus;Secreted NA 0 PE1 -NX_P09067 29434 269 9.1 17 Nucleus NA 0 PE1 -NX_P09086 51209 479 8.6 19 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P09093 29489 270 6.43 1 NA NA 0 PE1 -NX_P09104 47269 434 4.91 12 Cytoplasm;Cell membrane NA 0 PE1 -NX_P09105 15508 142 7.09 16 Lipid droplet NA 0 PE1 -NX_P09110 44292 424 8.76 3 Peroxisome NA 0 PE1 -NX_P09131 50333 477 7.65 X Cytoskeleton;Endoplasmic reticulum;Membrane NA 8 PE1 -NX_P09132 16156 144 9.87 5 Cytoplasm NA 0 PE1 -NX_P09172 69065 617 5.97 9 Secreted;Endoplasmic reticulum;Secretory vesicle lumen;Cytoplasmic vesicle;Chromaffin granule lumen;Chromaffin granule membrane;Secretory vesicle membrane Dopamine beta-hydroxylase deficiency 1 PE1 -NX_P09210 25664 222 8.51 6 Cytoplasm NA 0 PE1 -NX_P09211 23356 210 5.43 11 Mitochondrion;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_P09228 16445 141 4.85 20 Secreted NA 0 PE1 -NX_P09234 17394 159 9.72 6 Nucleus NA 0 PE1 -NX_P09237 29677 267 7.73 11 Cytoplasmic vesicle;Nucleoplasm;Extracellular matrix NA 0 PE1 -NX_P09238 54151 476 5.49 11 Cytosol;Cell membrane;Extracellular matrix NA 0 PE1 -NX_P09326 27683 243 8.34 1 Cytosol;Nucleolus;Cell membrane NA 0 PE1 -NX_P09327 92695 827 5.99 2 Ruffle;Microvillus;Filopodium tip;Cell membrane;Filopodium;Lamellipodium;Cytoskeleton NA 0 PE1 -NX_P09341 11301 107 10.46 4 Secreted NA 0 PE1 -NX_P09382 14716 135 5.33 22 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Extracellular matrix NA 0 PE1 -NX_P09417 25790 244 6.9 4 Mitochondrion Hyperphenylalaninemia, BH4-deficient, C 0 PE1 -NX_P09429 24894 215 5.62 13 Endoplasmic reticulum-Golgi intermediate compartment;Endosome;Secreted;Cytoplasm;Cell membrane;Nucleus;Chromosome NA 0 PE1 -NX_P09430 6424 55 12.09 2 Nucleus;Chromosome NA 0 PE1 -NX_P09455 15850 135 4.99 3 Nucleoplasm;Cytoplasm;Lipid droplet;Cytosol NA 0 PE1 -NX_P09466 20624 180 5.36 9 Secreted NA 0 PE1 -NX_P09467 36842 338 6.54 9 Mitochondrion Fructose-1,6-bisphosphatase deficiency 0 PE1 -NX_P09471 40051 354 5.34 16 Cell membrane;Membrane Neurodevelopmental disorder with involuntary movements;Epileptic encephalopathy, early infantile, 17 0 PE1 -NX_P09486 34632 303 4.73 5 Basement membrane Osteogenesis imperfecta 17 0 PE1 -NX_P09488 25712 218 6.24 1 Cytoplasm NA 0 PE1 -NX_P09493 32709 284 4.69 15 Cytoplasm;Cytoskeleton Left ventricular non-compaction 9;Cardiomyopathy, dilated 1Y;Cardiomyopathy, familial hypertrophic 3 0 PE1 -NX_P09496 27077 248 4.43 9 Endosome;Lysosome;Cytoplasmic vesicle;Coated pit;Spindle;Cytoplasmic vesicle membrane NA 0 PE1 -NX_P09497 25190 229 4.57 5 Cytosol;Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Coated pit;Cell membrane NA 0 PE1 -NX_P09525 35883 319 5.84 2 Cytosol NA 0 PE1 -NX_P09529 45122 407 8.35 2 Secreted NA 0 PE1 -NX_P09543 47579 421 9.17 17 Cytosol;Nucleus;Melanosome;Membrane NA 0 PE1 -NX_P09544 40418 360 9.06 7 Cytoplasmic vesicle;Secreted;Extracellular matrix NA 0 PE1 -NX_P09564 25409 240 6.87 17 Membrane NA 1 PE1 -NX_P09565 12087 113 9.65 11 NA NA 0 PE1 -NX_P09601 32819 288 7.89 22 Endoplasmic reticulum membrane;Golgi apparatus;Microsome;Cell membrane Heme oxygenase 1 deficiency 0 PE1 -NX_P09603 60179 554 5.16 1 Extracellular space;Cell membrane NA 1 PE1 -NX_P09619 123968 1106 4.88 5 Cytoplasmic vesicle;Lysosome lumen;Cell membrane;Golgi apparatus Myofibromatosis, infantile 1;Kosaki overgrowth syndrome;Leukemia, acute myelogenous;Leukemia, juvenile myelomonocytic;Premature aging syndrome, Penttinen type;Myeloproliferative disorder chronic with eosinophilia;Basal ganglia calcification, idiopathic, 4 1 PE1 -NX_P09622 54177 509 7.95 7 Mitochondrion matrix;Nucleus;Mitochondrion;Flagellum;Acrosome Dihydrolipoamide dehydrogenase deficiency 0 PE1 -NX_P09629 24015 217 8.83 17 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P09630 26915 235 9.18 12 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_P09651 38747 372 9.17 12 Cytoplasm;Nucleus Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3;Amyotrophic lateral sclerosis 20 0 PE1 -NX_P09661 28416 255 8.71 15 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_P09668 37394 335 8.35 15 Cytosol;Cytoplasmic vesicle;Lysosome NA 0 PE1 -NX_P09669 8781 75 10.38 8 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_P09681 17108 153 7.8 17 Secreted NA 0 PE1 -NX_P09683 13016 121 11.27 11 Secreted NA 0 PE1 -NX_P09693 20469 182 8.6 11 Cell membrane Immunodeficiency 17 1 PE1 -NX_P09758 35709 323 9.14 1 Cytoplasmic vesicle;Nucleolus;Cell membrane;Membrane Corneal dystrophy, gelatinous drop-like 1 PE1 -NX_P09769 59479 529 5.41 1 Cytosol;Cell membrane;Mitochondrion inner membrane;Ruffle membrane;Mitochondrion intermembrane space;Cytoskeleton NA 0 PE1 -NX_P09848 218587 1927 5.9 2 Apical cell membrane Congenital lactase deficiency 1 PE1 -NX_P09871 76684 688 4.86 12 Cytosol;Nucleus Complement component C1s deficiency;Ehlers-Danlos syndrome, periodontal type, 2 0 PE1 -NX_P09874 113084 1014 8.99 1 Nucleolus;Nucleus NA 0 PE1 -NX_P09884 165913 1462 5.61 X Cytosol;Nucleoplasm;Nucleus Pigmentary disorder, reticulate, with systemic manifestations, X-linked 0 PE1 -NX_P09912 12927 130 5.27 1 Mitochondrion;Mitochondrion inner membrane NA 4 PE1 -NX_P09913 54632 472 6.32 10 Cytoplasmic vesicle;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_P09914 55360 478 6.75 10 Cytosol;Cytoplasm NA 0 PE1 -NX_P09917 77983 674 5.51 10 Nucleoplasm;Cytoplasm;Nucleus matrix;Nucleus membrane NA 0 PE1 -NX_P09919 22293 207 5.61 17 Secreted NA 0 PE1 -NX_P09923 56812 528 5.53 2 Cell membrane NA 0 PE1 -NX_P09936 24824 223 5.33 4 Cytosol;Cytoplasm;Endoplasmic reticulum membrane;Nucleoplasm Spastic paraplegia 79, autosomal recessive;Parkinson disease 5 0 PE1 -NX_P09958 86678 794 6.01 15 trans-Golgi network membrane;Golgi apparatus;Secreted;Nucleoplasm;Cell membrane;Endosome membrane NA 1 PE1 -NX_P09960 69285 611 5.8 12 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_P09972 39456 364 6.41 17 Cytoplasmic vesicle;Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_P0C024 26942 238 6.55 16 Nucleoplasm;Golgi apparatus;Peroxisome NA 0 PE1 -NX_P0C025 35923 328 6.2 1 Cytosol;Centrosome NA 0 PE1 -NX_P0C091 238179 2139 5.14 4 Extracellular matrix NA 0 PE3 -NX_P0C0E4 31239 278 9.64 X Mitochondrion;Cytoplasm;Membrane Mental retardation, X-linked, syndromic, Martin-Probst type 0 PE1 -NX_P0C0L4 192785 1744 6.66 6 Axon;Dendrite;Synapse;Secreted Systemic lupus erythematosus;Complement component 4A deficiency 0 PE1 -NX_P0C0L5 192751 1744 6.89 6 Axon;Dendrite;Synapse;Secreted Systemic lupus erythematosus;Complement component 4B deficiency 0 PE1 -NX_P0C0P6 10103 89 10.3 10 Secreted NA 0 PE3 -NX_P0C0S5 13553 128 10.58 4 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_P0C0S8 14091 130 10.9 6 Nucleus;Chromosome NA 0 PE1 -NX_P0C1H6 17001 154 10.08 X Nucleus;Chromosome NA 0 PE1 -NX_P0C1S8 62925 567 6.06 7 Nucleoplasm;Cytosol;Nucleus Oocyte maturation defect 5 0 PE1 -NX_P0C1Z6 28278 253 5.19 19 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_P0C221 93626 793 6.34 14 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_P0C263 38088 348 5.3 19 NA NA 0 PE1 -NX_P0C264 38488 359 4.71 19 Mitochondrion NA 0 PE1 -NX_P0C2L3 18190 166 4.86 9 Cytosol;Nucleus;Cell membrane;Membrane NA 1 PE1 -NX_P0C2S0 8980 81 4.36 15 Membrane NA 1 PE3 -NX_P0C2W1 30633 286 8.01 3 Cytosol;Postsynaptic cell membrane;Presynaptic cell membrane NA 0 PE1 -NX_P0C2W7 31319 299 4.11 X NA NA 0 PE1 -NX_P0C2Y1 48090 421 4.73 1 Cytoplasm NA 0 PE5 -NX_P0C5J1 36771 330 5.85 8 NA NA 0 PE1 -NX_P0C5K6 3500 33 9.5 X NA NA 0 PE5 -NX_P0C5K7 15412 136 9.08 15 NA NA 0 PE2 -NX_P0C5Y4 12324 121 6.14 17 NA NA 0 PE2 -NX_P0C5Y9 12697 115 10.67 X Nucleus;Chromosome NA 0 PE1 -NX_P0C5Z0 12713 115 10.67 X Nucleus;Chromosome NA 0 PE1 -NX_P0C604 35621 315 7.93 11 Cell membrane NA 7 PE3 -NX_P0C617 36816 328 7.52 11 Cell membrane NA 7 PE3 -NX_P0C623 34733 307 8.63 14 Cell membrane NA 7 PE3 -NX_P0C626 35647 314 8.86 11 Cell membrane NA 7 PE3 -NX_P0C628 34762 307 9.22 3 Cell membrane NA 7 PE3 -NX_P0C629 34891 311 9.2 1 Cell membrane NA 7 PE3 -NX_P0C645 35737 315 8.58 14 Cell membrane NA 7 PE3 -NX_P0C646 33382 298 8.97 11 Cell membrane NA 7 PE3 -NX_P0C671 71930 652 8.7 6 NA NA 0 PE1 -NX_P0C672 28460 248 7.55 12 Membrane NA 3 PE5 -NX_P0C6A0 29628 271 9.34 19 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P0C6C1 58256 535 9.15 15 Mitochondrion NA 0 PE3 -NX_P0C6P0 11233 100 8.77 15 NA NA 0 PE5 -NX_P0C6S8 64881 592 8.94 19 Mitochondrion;Membrane NA 1 PE1 -NX_P0C6T2 4193 37 6.52 2 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_P0C7A2 43591 387 4.71 5 NA NA 0 PE2 -NX_P0C7H8 13480 128 8.32 17 NA NA 0 PE1 -NX_P0C7H9 59751 530 8.09 8 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_P0C7I0 59635 530 7.3 8 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_P0C7I6 33695 297 5.64 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_P0C7L1 10821 97 4.9 3 Secreted NA 0 PE2 -NX_P0C7M3 10526 94 6.81 14 Cytoplasm;Secreted NA 0 PE1 -NX_P0C7M4 31637 288 4.52 X Nucleus NA 0 PE1 -NX_P0C7M6 18251 154 10.51 3 NA NA 0 PE1 -NX_P0C7M7 65703 580 8.84 12 Mitochondrion matrix NA 0 PE1 -NX_P0C7M8 23927 214 6.83 7 Membrane NA 1 PE1 -NX_P0C7N1 36334 319 8.77 11 Cell membrane NA 7 PE3 -NX_P0C7N4 39065 346 8.39 22 Membrane NA 1 PE2 -NX_P0C7N5 35054 309 8.4 11 Cell membrane NA 7 PE3 -NX_P0C7N8 34020 305 8.1 11 Cell membrane NA 7 PE3 -NX_P0C7P0 14216 127 10.56 17 Mitochondrion NA 0 PE1 -NX_P0C7P1 55775 496 9.95 Y Nucleus NA 0 PE2 -NX_P0C7P2 11739 107 10.07 22 NA NA 0 PE2 -NX_P0C7P3 103907 912 8.57 17 Nucleus Bleeding disorder, platelet-type 20 0 PE1 -NX_P0C7P4 30815 283 9.04 22 NA NA 0 PE5 -NX_P0C7Q2 11437 107 9.03 10 Cytoplasm Macular degeneration, age-related, 8 0 PE1 -NX_P0C7Q5 35378 338 6.77 18 Membrane NA 7 PE5 -NX_P0C7Q6 35103 338 6.11 17 Membrane NA 9 PE2 -NX_P0C7T2 34287 308 8.56 1 Cell membrane NA 7 PE3 -NX_P0C7T3 35317 313 9.02 11 Cell membrane NA 7 PE3 -NX_P0C7T4 6023 53 5.01 18 NA NA 0 PE1 -NX_P0C7T5 73306 689 6.13 16 Dendrite;Nucleus NA 0 PE1 -NX_P0C7T7 38799 363 11.74 14 NA NA 0 PE5 -NX_P0C7T8 23522 217 6.71 14 Membrane NA 4 PE2 -NX_P0C7U0 90477 828 8.67 7 Nucleoplasm;Dendrite;Cell junction;Membrane NA 1 PE1 -NX_P0C7U1 19025 165 9.1 10 NA NA 0 PE2 -NX_P0C7U3 41895 371 8.88 5 Membrane NA 5 PE3 -NX_P0C7U9 31739 286 10.05 8 Membrane NA 2 PE2 -NX_P0C7V0 29146 271 11.35 6 NA NA 0 PE5 -NX_P0C7V4 49895 464 9.95 8 NA NA 0 PE5 -NX_P0C7V6 87541 817 9.02 X NA NA 0 PE5 -NX_P0C7V7 19160 166 9.66 8 Membrane NA 1 PE5 -NX_P0C7V8 71191 631 4.64 X NA NA 0 PE1 -NX_P0C7V9 26716 234 5.61 3 NA NA 0 PE5 -NX_P0C7W0 20715 189 4.83 17 NA NA 0 PE2 -NX_P0C7W6 31035 258 5.01 10 Cytoplasm;Cilium NA 0 PE1 -NX_P0C7W8 49853 464 9.95 8 NA NA 0 PE5 -NX_P0C7W9 49953 464 9.9 8 NA NA 0 PE5 -NX_P0C7X0 49829 464 9.95 8 NA NA 0 PE5 -NX_P0C7X1 62219 549 9.2 17 Cell membrane NA 0 PE2 -NX_P0C7X2 30575 276 9.42 16 Nucleoplasm;Nucleus;Cell junction;Cell membrane NA 0 PE1 -NX_P0C7X3 39078 344 7.28 16 NA NA 0 PE3 -NX_P0C7X4 22644 201 6.65 X NA NA 0 PE5 -NX_P0C7X5 67808 589 8.76 2 Nucleus NA 0 PE3 -NX_P0C841 5233 47 6.01 8 NA NA 0 PE5 -NX_P0C842 13547 121 4.49 10 NA NA 0 PE5 -NX_P0C843 12082 101 10.05 9 NA NA 0 PE5 -NX_P0C851 15334 137 9.86 17 Cytosol;Cell membrane;Membrane NA 2 PE2 -NX_P0C853 11579 105 5.82 8 NA NA 0 PE5 -NX_P0C854 23602 216 10.5 22 Secreted NA 0 PE5 -NX_P0C860 51070 447 8.6 2 Nucleus NA 0 PE5 -NX_P0C862 34681 333 8.59 13 Secreted NA 0 PE1 -NX_P0C864 16785 163 10.29 4 NA NA 0 PE5 -NX_P0C866 30847 280 5.49 1 NA NA 0 PE5 -NX_P0C869 87978 781 5.64 15 Cytosol;Early endosome membrane;Mitochondrion membrane NA 0 PE1 -NX_P0C870 35932 316 5.22 15 NA NA 0 PE1 -NX_P0C874 102419 917 8.32 9 Membrane NA 1 PE2 -NX_P0C875 38070 324 8.89 2 Golgi apparatus NA 0 PE1 -NX_P0C879 14498 139 12 10 NA NA 0 PE5 -NX_P0C880 14177 135 11.84 20 NA NA 0 PE5 -NX_P0C881 100635 870 7.16 7 NA NA 0 PE2 -NX_P0C8F1 11407 98 8.97 11 Acrosome;Secreted NA 0 PE1 -NX_P0CAP1 54206 466 5.91 15 I band;Cytoskeleton;Z line;Cell junction;Cell membrane NA 0 PE1 -NX_P0CAP2 41740 368 6.01 15 Nucleus;Nucleus envelope NA 0 PE1 -NX_P0CAT3 13375 122 10.82 10 NA NA 0 PE5 -NX_P0CB33 47565 412 9.31 7 Nucleus NA 0 PE5 -NX_P0CB38 41854 370 9.53 4 NA NA 0 PE1 -NX_P0CB47 46134 393 9.52 11 Cytoplasm;Nucleus NA 0 PE3 -NX_P0CB48 46551 400 9.11 2 Nucleus NA 0 PE5 -NX_P0CE67 11337 100 9.02 3 NA NA 0 PE4 -NX_P0CE71 12129 109 4.11 7 NA NA 0 PE5 -NX_P0CE72 12184 109 4.19 7 NA NA 0 PE1 -NX_P0CF51 19804 173 7.7 7 Cell membrane NA 1 PE1 -NX_P0CF74 11277 106 6.91 22 Cell membrane;Secreted NA 0 PE1 -NX_P0CF75 40313 366 7 10 NA NA 0 PE2 -NX_P0CF97 76034 657 8.33 4 NA NA 0 PE2 -NX_P0CG00 56244 497 8.95 11 Nucleus NA 0 PE5 -NX_P0CG01 20221 181 8.64 2 Secreted NA 0 PE3 -NX_P0CG04 11348 106 7.89 22 Cell membrane;Secreted NA 0 PE1 -NX_P0CG08 52917 455 9.34 1 Golgi apparatus membrane;Endoplasmic reticulum NA 9 PE1 -NX_P0CG12 51391 524 12.42 16 Nucleoplasm;Nucleus NA 0 PE1 -NX_P0CG13 13314 121 7.9 16 Nucleus NA 0 PE1 -NX_P0CG20 59354 571 9.16 16 NA NA 0 PE2 -NX_P0CG21 12631 123 4.78 16 NA NA 0 PE2 -NX_P0CG22 30608 281 9.81 14 NA NA 0 PE5 -NX_P0CG23 74878 659 5.19 7 Nucleolus NA 0 PE1 -NX_P0CG24 43967 379 9.03 9 Nucleus NA 0 PE2 -NX_P0CG29 27506 244 6.53 22 Cytoplasm NA 0 PE1 -NX_P0CG30 27507 244 5.99 22 Cytoplasm NA 0 PE1 -NX_P0CG31 59572 522 8.7 17 Cytosol;Nucleus speckle;Nucleus NA 0 PE5 -NX_P0CG32 45160 403 7.02 X NA NA 0 PE3 -NX_P0CG33 79896 693 5.37 15 NA NA 0 PE2 -NX_P0CG34 5229 45 5.31 X Cytoskeleton NA 0 PE1 -NX_P0CG35 5229 45 5.31 X Cytoskeleton NA 0 PE1 -NX_P0CG36 24642 223 9.04 2 Secreted NA 0 PE3 -NX_P0CG37 24612 223 9.14 2 Cell membrane;Secreted Heterotaxy, visceral, 2, autosomal 0 PE1 -NX_P0CG38 121282 1075 5.83 2 NA NA 0 PE1 -NX_P0CG39 117390 1038 5.66 2 NA NA 0 PE1 -NX_P0CG40 48915 484 9.05 2 Mitochondrion;Nucleus NA 0 PE1 -NX_P0CG41 88077 777 5.23 7 Membrane NA 1 PE2 -NX_P0CG42 43129 384 11.41 9 NA NA 0 PE3 -NX_P0CG43 43408 387 11.19 16 NA NA 0 PE3 -NX_P0CG47 25762 229 6.86 17 Cytoplasm;Nucleus NA 0 PE1 -NX_P0CG48 77039 685 7.16 12 Cytoplasm;Nucleus NA 0 PE1 -NX_P0CH98 18676 169 5.62 17 NA NA 0 PE5 -NX_P0CH99 34712 300 9.14 8 Nucleus NA 0 PE2 -NX_P0CI00 34732 300 9.08 8 Nucleus NA 0 PE5 -NX_P0CI01 48330 402 9.78 7 NA NA 0 PE3 -NX_P0CI25 52888 452 7.53 11 NA NA 0 PE2 -NX_P0CI26 52933 452 7.28 11 NA NA 0 PE2 -NX_P0CJ68 2691 24 9.49 17 Cytoplasm;Secreted NA 0 PE2 -NX_P0CJ69 3081 28 7.98 5 Cytoplasm;Secreted NA 0 PE2 -NX_P0CJ70 2796 24 10.69 20 Cytoplasm;Secreted NA 0 PE2 -NX_P0CJ71 3247 28 9.19 16 Cytoplasm;Secreted NA 0 PE2 -NX_P0CJ72 2666 24 7.98 10 Cytoplasm;Secreted NA 0 PE2 -NX_P0CJ73 2719 24 9.49 7 Cytoplasm;Secreted NA 0 PE2 -NX_P0CJ74 2647 24 7.98 10 Cytoplasm;Secreted NA 0 PE2 -NX_P0CJ75 2661 24 9.49 11 Cytoplasm;Secreted NA 0 PE2 -NX_P0CJ76 2694 24 11.54 6 Cytoplasm;Secreted NA 0 PE2 -NX_P0CJ77 2806 24 10.69 X Cytoplasm;Secreted NA 0 PE2 -NX_P0CJ78 111077 1059 9.4 19 Nucleolus;Nucleus NA 0 PE1 -NX_P0CJ79 83549 718 9.33 19 Nucleus NA 0 PE1 -NX_P0CJ85 44926 424 8.72 4 Nucleus NA 0 PE3 -NX_P0CJ86 44926 424 8.72 4 Nucleus NA 0 PE3 -NX_P0CJ87 44826 422 8.36 4 Nucleus NA 0 PE3 -NX_P0CJ88 44926 424 8.72 4 Nucleus NA 0 PE3 -NX_P0CJ89 44926 424 8.72 4 Nucleus NA 0 PE3 -NX_P0CJ90 44926 424 8.72 4 Nucleus NA 0 PE3 -NX_P0CJ92 71342 632 8.15 15 NA NA 0 PE3 -NX_P0CK96 43777 405 8.65 1 Membrane NA 10 PE1 -NX_P0CK97 29079 266 8.28 1 Nucleus;Membrane NA 4 PE2 -NX_P0CL80 12978 117 4.3 X NA NA 0 PE3 -NX_P0CL81 12978 117 4.3 X NA NA 0 PE3 -NX_P0CL82 12978 117 4.3 X NA NA 0 PE1 -NX_P0CL83 23775 205 7.61 7 Nucleus NA 0 PE5 -NX_P0CL84 15630 134 8.27 7 Nucleus NA 0 PE5 -NX_P0CL85 15609 134 7.57 7 Nucleus NA 0 PE2 -NX_P0CV98 35101 308 5.23 Y NA NA 0 PE3 -NX_P0CV99 35727 314 5.12 Y NA NA 0 PE2 -NX_P0CW00 35147 308 5.16 Y NA NA 0 PE3 -NX_P0CW01 35101 308 5.23 Y NA NA 0 PE3 -NX_P0CW18 64597 603 9.15 2 NA Microphthalmia, isolated, 6 0 PE1 -NX_P0CW19 13251 117 5.38 2 Cytoplasm NA 0 PE2 -NX_P0CW20 13251 117 5.38 2 NA NA 0 PE1 -NX_P0CW21 6167 52 9.69 13 NA NA 0 PE5 -NX_P0CW23 7848 69 6.73 18 NA NA 0 PE1 -NX_P0CW24 43875 399 5.24 X Mitochondrion;Nucleolus NA 0 PE1 -NX_P0CW27 48709 439 10.6 8 NA NA 0 PE1 -NX_P0CZ25 17537 163 9.57 12 NA NA 0 PE2 -NX_P0DH78 16549 156 7.43 9 NA NA 0 PE4 -NX_P0DI80 7017 62 3.72 17 Nucleus;Membrane NA 1 PE2 -NX_P0DI81 16445 140 6.02 X Endoplasmic reticulum-Golgi intermediate compartment;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Perinuclear region;Nucleus Spondyloepiphyseal dysplasia tarda 0 PE1 -NX_P0DI82 16445 140 6.02 19 Endoplasmic reticulum-Golgi intermediate compartment;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Perinuclear region;Nucleus NA 0 PE1 -NX_P0DI83 21118 198 12.15 17 Nucleolus;Nucleus NA 0 PE1 -NX_P0DJ07 9114 73 6.31 19 Nucleoplasm;Mitochondrion;Membrane NA 1 PE1 -NX_P0DJ93 10351 91 6.17 6 Nucleus;Nucleus membrane;Golgi apparatus;Membrane NA 1 PE1 -NX_P0DJD0 196662 1748 5.8 2 NA NA 0 PE2 -NX_P0DJD1 197308 1756 5.85 2 NA NA 0 PE1 -NX_P0DJD3 55784 496 9.95 Y Nucleus NA 0 PE1 -NX_P0DJD4 55784 496 9.93 Y Nucleus NA 0 PE1 -NX_P0DJD7 41977 388 4.16 11 Secreted NA 0 PE1 -NX_P0DJD8 41976 388 4.22 11 Secreted NA 0 PE1 -NX_P0DJD9 41993 388 4.21 11 Secreted NA 0 PE1 -NX_P0DJG4 53028 465 9.33 4 NA NA 0 PE1 -NX_P0DJH9 23209 198 5.98 14 NA NA 0 PE2 -NX_P0DJI8 13532 122 6.28 11 Secreted NA 0 PE1 -NX_P0DJI9 13527 122 9.2 11 Secreted NA 0 PE1 -NX_P0DJJ0 53484 459 5.98 1 NA NA 0 PE1 -NX_P0DJR0 24463 217 8.18 4 NA NA 0 PE2 -NX_P0DKB5 40400 382 8.64 11 Membrane NA 1 PE1 -NX_P0DKB6 15138 136 9.95 X Membrane NA 2 PE1 -NX_P0DKL9 17712 152 8.71 5 NA NA 0 PE4 -NX_P0DKV0 130522 1188 9.52 9 Membrane NA 1 PE5 -NX_P0DKX0 71801 622 9.32 19 NA NA 0 PE2 -NX_P0DKX4 11088 95 6.7 8 Nucleus;Centrosome;Membrane NA 1 PE2 -NX_P0DL12 13332 118 4.56 19 Cytoplasmic vesicle;Membrane NA 1 PE4 -NX_P0DM35 6094 61 8.75 1 NA NA 0 PE3 -NX_P0DM63 42230 369 9.22 16 NA NA 0 PE2 -NX_P0DMB1 31050 279 6.08 8 NA NA 0 PE2 -NX_P0DMB2 13372 117 9.81 8 NA NA 0 PE1 -NX_P0DMC3 6622 54 12.22 4 Extracellular space;Secreted NA 0 PE1 -NX_P0DME0 34882 302 4.2 1 Cytoplasm;Nucleus NA 0 PE1 -NX_P0DML2 25020 217 5.34 17 Secreted NA 0 PE1 -NX_P0DML3 24994 217 5.34 17 Secreted NA 0 PE1 -NX_P0DMM9 34196 295 5.68 16 Cytoplasm NA 0 PE1 -NX_P0DMN0 34196 295 5.68 16 Cytoplasm NA 0 PE1 -NX_P0DMP1 2961 27 9.49 3 Cytoplasm;Secreted NA 0 PE2 -NX_P0DMP2 53406 458 6.46 1 NA NA 0 PE2 -NX_P0DMQ5 15439 153 9.3 15 Membrane NA 1 PE1 -NX_P0DMQ9 18160 161 9.49 8 NA NA 0 PE2 -NX_P0DMR1 32029 293 5.48 1 Nucleus NA 0 PE1 -NX_P0DMR2 10457 95 4.7 17 Secreted NA 0 PE3 -NX_P0DMR3 22759 200 8.47 13 Cytoplasm NA 0 PE5 -NX_P0DMS8 36185 318 9.11 1 Cell membrane NA 7 PE1 -NX_P0DMS9 30327 266 8.9 1 Membrane NA 2 PE1 -NX_P0DMT0 5194 46 5.97 10 Sarcoplasmic reticulum membrane NA 1 PE2 -NX_P0DMU2 34506 310 7.57 11 Cell membrane NA 7 PE5 -NX_P0DMU3 18266 169 8.91 1 NA NA 0 PE3 -NX_P0DMU4 18266 169 8.91 1 NA NA 0 PE5 -NX_P0DMU5 18266 169 8.91 1 NA NA 0 PE3 -NX_P0DMU7 21232 189 9.72 X NA NA 0 PE2 -NX_P0DMU8 21232 189 9.72 X NA NA 0 PE2 -NX_P0DMU9 21145 189 9.61 X NA NA 0 PE1 -NX_P0DMV0 21232 189 9.72 X NA NA 0 PE3 -NX_P0DMV1 21363 189 9.67 X NA NA 0 PE3 -NX_P0DMV2 21363 189 9.67 X NA NA 0 PE3 -NX_P0DMV8 70052 641 5.48 6 Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_P0DMV9 70052 641 5.48 6 Cytoplasm;Centrosome NA 0 PE1 -NX_P0DMW2 4993 45 5.92 X Cytoplasm;Nucleus NA 0 PE2 -NX_P0DMW3 7391 68 10.02 12 NA NA 0 PE1 -NX_P0DMW4 8389 78 11.25 X NA NA 0 PE2 -NX_P0DMW5 8389 78 11.25 X NA NA 0 PE2 -NX_P0DN24 10933 101 7.77 3 NA NA 0 PE1 -NX_P0DN25 36396 315 5.41 2 Membrane NA 1 PE2 -NX_P0DN26 18197 164 9.43 1 Cytoplasm NA 0 PE3 -NX_P0DN37 18166 164 9.19 1 Cytoplasm NA 0 PE3 -NX_P0DN76 27872 240 9.09 21 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_P0DN77 40584 364 8.9 X Cell membrane NA 7 PE3 -NX_P0DN78 40584 364 8.9 X Cell membrane NA 7 PE3 -NX_P0DN79 60587 551 6.2 21 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P0DN80 34772 308 7.05 3 Cell membrane NA 7 PE3 -NX_P0DN81 34899 318 9.01 9 Cell membrane NA 7 PE3 -NX_P0DN82 35330 309 9.29 6 Cell membrane NA 7 PE3 -NX_P0DN84 3765 34 6.5 3 Sarcoplasmic reticulum membrane NA 1 PE2 -NX_P0DN86 17739 165 8.49 19 Secreted NA 0 PE1 -NX_P0DN87 17757 165 8.66 19 Secreted NA 0 PE2 -NX_P0DO92 9002 83 8.53 16 NA NA 0 PE4 -NX_P0DO97 32479 292 4.98 5 NA NA 0 PE1 -NX_P0DOY2 11294 106 6.91 22 Cell membrane;Secreted NA 0 PE1 -NX_P0DOY3 11266 106 6.91 22 Cell membrane;Secreted NA 0 PE1 -NX_P0DOY5 435 5 5.53 14 Cell membrane;Secreted NA 0 PE4 -NX_P0DP01 12992 117 9.26 14 Cell membrane;Secreted NA 0 PE1 -NX_P0DP02 12989 117 9.12 14 Cell membrane;Secreted NA 0 PE3 -NX_P0DP03 12947 117 9.1 14 Cell membrane;Secreted NA 0 PE3 -NX_P0DP04 13017 118 5.28 14 Cell membrane;Secreted NA 0 PE3 -NX_P0DP06 13156 118 9.33 14 Cell membrane;Secreted NA 0 PE3 -NX_P0DP07 13095 118 9.33 14 Cell membrane;Secreted NA 0 PE1 -NX_P0DP08 13016 117 9.36 14 Cell membrane;Secreted NA 0 PE1 -NX_P0DP09 12569 117 7.68 2 Cell membrane;Secreted NA 0 PE1 -NX_P0DP23 16838 149 4.09 14 Spindle;Spindle pole;Centrosome Long QT syndrome 14;Ventricular tachycardia, catecholaminergic polymorphic, 4 0 PE1 -NX_P0DP24 16838 149 4.09 2 Spindle;Spindle pole;Centrosome Long QT syndrome 15 0 PE1 -NX_P0DP25 16838 149 4.09 19 Spindle;Spindle pole;Centrosome NA 0 PE1 -NX_P0DP42 25027 221 5.35 7 Membrane NA 4 PE1 -NX_P0DP57 10160 97 6.14 8 Secreted NA 0 PE1 -NX_P0DP58 12641 116 8.04 8 Dendrite;Endoplasmic reticulum;Cell membrane NA 0 PE1 -NX_P0DP71 8682 79 8.8 X NA NA 0 PE3 -NX_P0DP72 81629 767 5.95 11 Membrane NA 1 PE2 -NX_P0DP73 8736 79 9.47 8 Secreted NA 0 PE2 -NX_P0DP74 8736 79 9.47 8 Secreted NA 0 PE2 -NX_P0DP75 14289 135 12.24 X NA NA 0 PE5 -NX_P0DP91 119487 1061 6.15 10 Nucleus Premature ovarian failure 11 0 PE1 -NX_P0DPA2 43891 414 6.84 1 Membrane NA 1 PE1 -NX_P0DPA3 25086 235 9.42 1 Nucleoplasm NA 0 PE5 -NX_P0DPB3 53480 487 4.98 3 Cytoplasm NA 0 PE1 -NX_P0DPB5 14332 122 9.88 13 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_P0DPB6 15237 133 5.55 13 Nucleus Treacher Collins syndrome 2 0 PE1 -NX_P0DPD5 59152 513 9.39 19 Nucleus NA 0 PE3 -NX_P0DPD6 91211 811 5.19 3 Golgi apparatus membrane;Secretory vesicle membrane NA 1 PE1 -NX_P0DPD7 28306 255 5.65 3 NA NA 0 PE1 -NX_P0DPD8 99773 883 4.98 3 Golgi apparatus membrane;Secretory vesicle membrane NA 1 PE1 -NX_P0DPE3 33577 317 9.29 12 Membrane NA 1 PE3 -NX_P0DPE8 15007 139 8.6 21 Membrane NA 1 PE2 -NX_P0DPF2 595733 5207 4.55 1 Cytoplasm NA 0 PE2 -NX_P0DPF3 127756 1111 4.71 1 Cytoplasm NA 0 PE2 -NX_P0DPF4 12305 110 4.64 14 Cell membrane NA 0 PE3 -NX_P0DPF5 21517 203 5.13 2 NA NA 0 PE2 -NX_P0DPF6 22074 209 4.78 2 NA NA 0 PE2 -NX_P0DPF7 12525 114 8.38 7 Cell membrane NA 0 PE1 -NX_P0DPH7 49960 450 4.98 13 Cytoskeleton NA 0 PE1 -NX_P0DPH8 49960 450 4.98 2 Cytoskeleton Keratoconus 9 0 PE1 -NX_P0DPH9 12028 108 10.8 X NA NA 0 PE1 -NX_P0DPI2 28170 268 8.5 21 Mitochondrion NA 0 PE1 -NX_P0DPI3 29887 272 10.16 X NA NA 0 PE3 -NX_P0DPI4 290 4 5.53 7 Cell membrane NA 0 PE4 -NX_P0DPK2 15423 136 11.51 5 Nucleus;Chromosome NA 0 PE1 -NX_P0DPK3 30097 275 5.44 1 Secreted NA 0 PE1 -NX_P0DPK4 25835 236 5.44 1 Secreted NA 0 PE1 -NX_P0DPK5 16466 147 11.39 5 Nucleus;Chromosome NA 0 PE5 -NX_P0DPP9 6991 59 10.43 X NA NA 0 PE1 -NX_P0DPQ3 21866 210 9.5 3 NA NA 0 PE3 -NX_P0DPQ4 29214 251 8.7 21 NA NA 0 PE3 -NX_P0DPQ6 4284 34 11.44 12 Cytoplasm;Nucleus NA 0 PE1 -NX_P0DPR3 260 2 4 14 Cell membrane NA 0 PE1 -NX_P10070 167783 1586 6.9 2 Cytoplasm;Nucleolus;Nucleus;Cilium Culler-Jones syndrome;Holoprosencephaly 9 0 PE1 -NX_P10071 169863 1580 7.02 7 Cytoplasm;Nucleus;Cilium Pallister-Hall syndrome;Polydactyly preaxial 4;Polydactyly, postaxial A1;Polydactyly, postaxial B;Greig cephalo-poly-syndactyly syndrome 0 PE1 -NX_P10072 75128 659 9.44 19 Mitochondrion;Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_P10073 54561 491 7.36 19 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 -NX_P10074 77054 688 8.55 1 Nucleoplasm;Cytosol;Nucleus;Telomere NA 0 PE1 -NX_P10075 41145 376 9.13 8 Cytoskeleton;Nucleus NA 0 PE1 -NX_P10082 11145 97 7.88 17 Secreted NA 0 PE1 -NX_P10092 13706 127 10.1 11 Secreted NA 0 PE1 -NX_P10109 19393 184 5.51 11 Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_P10114 20615 183 4.73 13 Recycling endosome membrane;Midbody NA 0 PE1 -NX_P10124 17652 158 4.81 10 Extracellular space;Golgi apparatus;Cytoplasmic granule NA 0 PE1 -NX_P10144 27716 247 9.62 14 Cytoplasmic granule NA 0 PE1 -NX_P10145 11098 99 9.1 4 Secreted NA 0 PE1 -NX_P10147 10085 92 4.77 17 Secreted NA 0 PE1 -NX_P10153 18354 161 9.1 14 Cytoplasmic granule;Lysosome NA 0 PE1 -NX_P10155 60671 538 8.27 1 Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_P10163 31326 310 10.52 12 Secreted NA 0 PE1 -NX_P10176 7579 69 10.26 11 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_P10242 72341 640 6.35 6 Nucleus;Cell membrane NA 0 PE1 -NX_P10243 85887 752 6.69 8 Nucleus NA 0 PE1 -NX_P10244 78764 700 6.43 20 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_P10253 105324 952 5.62 17 Lysosome membrane;Lysosome Glycogen storage disease 2 0 PE1 -NX_P10265 17108 156 5.86 5 NA NA 0 PE1 -NX_P10266 114827 1014 9.11 5 NA NA 0 PE3 -NX_P10275 99188 920 6.01 X Mitochondrion;Cytoplasm;Nucleus Androgen insensitivity syndrome;Spinal and bulbar muscular atrophy X-linked 1;Androgen insensitivity, partial 0 PE1 -NX_P10276 50771 462 8.21 17 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P10301 23480 218 6.43 19 Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_P10314 41048 365 6.02 6 Membrane NA 1 PE1 -NX_P10316 40977 365 6.42 6 Membrane NA 1 PE1 -NX_P10319 40337 362 5.9 6 Membrane NA 1 PE1 -NX_P10321 40649 366 5.71 6 Membrane NA 1 PE1 -NX_P10323 45847 421 9.26 22 NA NA 0 PE1 -NX_P10398 67585 606 9.2 X Nucleolus;Nucleus NA 0 PE1 -NX_P10412 21865 219 11.03 6 Nucleus speckle;Nucleus;Chromosome Rahman syndrome 0 PE1 -NX_P10415 26266 239 6.75 18 Endoplasmic reticulum membrane;Nucleoplasm;Nucleus membrane;Mitochondrion outer membrane NA 1 PE1 -NX_P10451 35423 314 4.37 4 Golgi apparatus;Secreted NA 0 PE1 -NX_P10515 68997 647 7.96 11 Mitochondrion matrix;Mitochondrion Pyruvate dehydrogenase E2 deficiency 0 PE1 -NX_P10523 45120 405 6.14 2 Photoreceptor outer segment;Membrane Retinitis pigmentosa 47;Night blindness, congenital stationary, Oguchi type 1 0 PE1 -NX_P10586 212879 1907 5.92 1 Golgi apparatus;Membrane Aplasia or hypoplasia of the breasts and/or nipples 2 1 PE1 -NX_P10588 42979 404 7.96 19 Nucleus NA 0 PE1 -NX_P10589 46156 423 8.62 5 Nucleus Bosch-Boonstra-Schaaf optic atrophy syndrome 0 PE1 -NX_P10599 11737 105 4.82 9 Cytosol;Cytoplasm;Nucleolus;Nucleus;Secreted NA 0 PE1 -NX_P10600 47328 412 8.31 14 Cytoplasmic vesicle;Secreted;Extracellular matrix Arrhythmogenic right ventricular dysplasia, familial, 1;Loeys-Dietz syndrome 5 0 PE1 -NX_P10606 13696 129 9.07 2 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P10619 54466 480 6.16 20 Cytoplasmic vesicle;Lysosome Galactosialidosis 0 PE1 -NX_P10620 17599 155 9.41 12 Endoplasmic reticulum membrane;Mitochondrion;Microsome;Endoplasmic reticulum;Mitochondrion outer membrane NA 4 PE1 -NX_P10632 55825 490 8.8 10 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P10635 55769 497 6.77 22 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P10636 78928 758 6.25 17 Nucleus speckle;Cytosol;Cytoplasm;Cell membrane;Axon;Dendrite;Cytoskeleton Frontotemporal dementia;Parkinson-dementia syndrome;Pick disease of the brain;Progressive supranuclear palsy 1 0 PE1 -NX_P10643 93518 843 6.09 5 Secreted Complement component 7 deficiency 0 PE1 -NX_P10644 42982 381 5.27 17 Cytosol;Cell membrane Primary pigmented nodular adrenocortical disease 1;Carney complex 1;Intracardiac myxoma;Acrodysostosis 1, with or without hormone resistance 0 PE1 -NX_P10645 50688 457 4.58 14 Cytoplasmic vesicle;Secretory vesicle;Secretory vesicle lumen;Secretory vesicle membrane;Secreted NA 0 PE1 -NX_P10646 35015 304 8.61 2 Cytosol;Microsome membrane;Cytoskeleton;Secreted NA 0 PE1 -NX_P10696 57377 532 5.9 2 Cell membrane NA 0 PE1 -NX_P10720 11553 104 9.3 4 Secreted NA 0 PE1 -NX_P10721 109865 976 6.54 4 Cytoplasm;Cell membrane Piebald trait;Testicular germ cell tumor;Leukemia, acute myelogenous;Mastocytosis, cutaneous;Mastocytosis, systemic;Gastrointestinal stromal tumor 1 PE1 -NX_P10745 135363 1247 4.98 10 Interphotoreceptor matrix Retinitis pigmentosa 66 0 PE1 -NX_P10746 28628 265 5.35 10 Cytosol;Nucleoplasm Congenital erythropoietic porphyria 0 PE1 -NX_P10747 25066 220 9.46 2 Cell surface;Membrane NA 1 PE1 -NX_P10767 22905 208 10 12 Extracellular space NA 0 PE1 -NX_P10768 31463 282 6.54 13 Cytoplasmic vesicle;Cytoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_P10809 61055 573 5.7 2 Mitochondrion matrix;Mitochondrion Spastic paraplegia 13, autosomal dominant;Leukodystrophy, hypomyelinating, 4 0 PE1 -NX_P10826 50489 455 8.04 3 Nucleoplasm;Cytoplasm;Nucleus Microphthalmia, syndromic, 12 0 PE1 -NX_P10827 54816 490 6.42 17 Cytosol;Nucleus Hypothyroidism, congenital, non-goitrous, 6 0 PE1 -NX_P10828 52788 461 6.68 3 Nucleus Generalized thyroid hormone resistance;Generalized thyroid hormone resistance autosomal recessive;Selective pituitary thyroid hormone resistance 0 PE1 -NX_P10909 52495 449 5.89 8 Secreted;Cytosol;Cytoplasm;Microsome;Endoplasmic reticulum;Nucleus;Mitochondrion membrane;Chromaffin granule NA 0 PE1 -NX_P10911 107673 925 5.72 X Cytoplasm;Membrane NA 0 PE1 -NX_P10912 71500 638 4.76 5 Cytosol;Cell membrane;Secreted Laron syndrome;Growth hormone insensitivity, partial 1 PE1 -NX_P10914 36502 325 5.22 5 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Gastric cancer 0 PE1 -NX_P10915 40166 354 7.1 5 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_P10916 18789 166 4.92 12 A band;Cytoskeleton Cardiomyopathy, familial hypertrophic 10 0 PE1 -NX_P10966 23722 210 10.03 2 Cell membrane;Secreted NA 1 PE1 -NX_P10997 9806 89 9.83 12 Secreted NA 0 PE1 -NX_P11021 72333 654 5.07 9 Cytosol;Cytoplasm;Endoplasmic reticulum lumen;Melanosome NA 0 PE1 -NX_P11047 177603 1609 5.01 1 Basement membrane;Endoplasmic reticulum;Cell membrane NA 0 PE1 -NX_P11049 31703 281 8.25 19 Membrane NA 4 PE1 -NX_P11055 223905 1940 5.62 17 Myofibril Arthrogryposis, distal, 2A;Arthrogryposis, distal, 8;Arthrogryposis, distal, 2B 0 PE1 -NX_P11086 30855 282 5.73 17 NA NA 0 PE1 -NX_P11117 48344 423 6.28 11 Lysosome lumen;Lysosome membrane NA 1 PE1 -NX_P11137 199526 1827 4.82 2 Cytosol;Dendrite;Cytoskeleton;Nucleolus NA 0 PE1 -NX_P11142 70898 646 5.37 11 Cytoplasm;Nucleolus;Melanosome;Cell membrane NA 0 PE1 -NX_P11150 55914 499 9.22 15 Secreted Hepatic lipase deficiency 0 PE1 -NX_P11161 50302 476 9.02 10 Nucleoplasm;Nucleus Neuropathy, congenital hypomyelinating or amyelinating;Charcot-Marie-Tooth disease 1D;Dejerine-Sottas syndrome 0 PE1 -NX_P11166 54084 492 8.93 1 Melanosome;Cell membrane Stomatin-deficient cryohydrocytosis with neurologic defects;GLUT1 deficiency syndrome 1;Dystonia 9;Epilepsy, idiopathic generalized 12;GLUT1 deficiency syndrome 2 12 PE1 -NX_P11168 57490 524 8.09 3 Nucleoplasm;Membrane Fanconi-Bickel syndrome 12 PE1 -NX_P11169 53924 496 6.84 12 Cell projection;Perikaryon;Cell membrane NA 12 PE1 -NX_P11171 97017 864 5.42 1 Cytosol;Cell cortex;Cell membrane;Nucleus;Cytoskeleton;Cell junction Elliptocytosis 1 0 PE1 -NX_P11172 52222 480 6.81 3 Cytosol Orotic aciduria 1 0 PE1 -NX_P11177 39233 359 6.2 3 Mitochondrion;Cytoplasm;Mitochondrion matrix;Nucleoplasm Pyruvate dehydrogenase E1-beta deficiency 0 PE1 -NX_P11182 53487 482 8.71 1 Mitochondrion matrix;Mitochondrion Maple syrup urine disease 2 0 PE1 -NX_P11215 127179 1152 6.88 16 Membrane raft;Cell membrane Systemic lupus erythematosus 6 1 PE1 -NX_P11216 96696 843 6.4 20 Cytosol NA 0 PE1 -NX_P11217 97092 842 6.57 11 NA Glycogen storage disease 5 0 PE1 -NX_P11226 26144 248 5.39 10 Secreted NA 0 PE1 -NX_P11229 51421 460 9.45 11 Cytosol;Postsynaptic cell membrane;Nucleus;Cell membrane NA 7 PE1 -NX_P11230 56698 501 5.5 17 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, 2A, slow-channel 4 PE1 -NX_P11233 23567 206 6.66 7 Midbody ring;Cleavage furrow;Cell membrane NA 0 PE1 -NX_P11234 23409 206 6.24 2 Midbody;Cell membrane NA 0 PE1 -NX_P11245 33542 290 5.6 8 Cytoplasm NA 0 PE1 -NX_P11274 142819 1271 6.62 22 Cytosol;Postsynaptic density;Nucleoplasm Leukemia, chronic myeloid 0 PE1 -NX_P11277 246468 2137 5.15 14 Cytosol;Cytoskeleton;Cell cortex;Golgi apparatus Spherocytosis 2;Elliptocytosis 3 0 PE1 -NX_P11279 44882 417 9 13 Endosome membrane;Lysosome membrane;Late endosome;Cell membrane NA 1 PE1 -NX_P11308 54608 486 7.01 21 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Ewing sarcoma 0 PE1 -NX_P11309 35686 313 5.72 6 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_P11310 46588 421 8.61 1 Mitochondrion matrix;Mitochondrion Acyl-CoA dehydrogenase medium-chain deficiency 0 PE1 -NX_P11362 91868 822 5.82 8 Cytoplasmic vesicle;Cytosol;Nucleolus;Nucleus;Cell membrane Encephalocraniocutaneous lipomatosis;Pfeiffer syndrome;Hartsfield syndrome;Trigonocephaly 1;Jackson-Weiss syndrome;Hypogonadotropic hypogonadism 2 with or without anosmia;Osteoglophonic dysplasia 1 PE1 -NX_P11387 90726 765 9.33 20 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P11388 174385 1531 8.82 17 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P11413 59257 515 6.39 X Cytosol;Cytoplasm;Cytoplasmic vesicle;Microtubule organizing center Anemia, non-spherocytic hemolytic, due to G6PD deficiency 0 PE1 -NX_P11441 17777 157 8.71 X Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P11464 47223 419 8.32 19 Secreted NA 0 PE1 -NX_P11465 37216 335 7.66 19 Secreted NA 0 PE1 -NX_P11473 48289 427 6.08 12 Nucleoplasm;Cytoplasm;Nucleus Rickets vitamin D-dependent 2A 0 PE1 -NX_P11474 45510 423 6.01 11 Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_P11487 26887 239 10.88 11 Secreted Deafness with labyrinthine aplasia, microtia and microdontia 0 PE1 -NX_P11488 40041 350 5.4 3 Photoreceptor outer segment;Membrane Night blindness, congenital stationary, 1G;Night blindness, congenital stationary, autosomal dominant 3 0 PE1 -NX_P11498 129634 1178 6.37 11 Mitochondrion;Mitochondrion matrix Pyruvate carboxylase deficiency 0 PE1 -NX_P11509 56501 494 9.25 19 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P11511 57883 503 7.2 15 Mitochondrion;Endoplasmic reticulum;Membrane Aromatase deficiency;Aromatase excess syndrome 0 PE1 -NX_P11532 426750 3685 5.64 X Cytoskeleton;Postsynaptic cell membrane;Sarcolemma Becker muscular dystrophy;Cardiomyopathy, dilated, X-linked 3B;Duchenne muscular dystrophy 0 PE1 -NX_P11586 101559 935 6.89 14 Cytosol;Cytoplasm Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia;Neural tube defects, folate-sensitive;Colorectal cancer 0 PE1 -NX_P11597 54756 493 5.7 16 Extracellular space Hyperalphalipoproteinemia 1 0 PE1 -NX_P11678 81040 715 10.31 17 Cytoplasmic granule Eosinophil peroxidase deficiency 0 PE1 -NX_P11684 9994 91 4.99 11 Secreted NA 0 PE1 -NX_P11686 21053 197 6.19 8 Surface film Respiratory distress syndrome in premature infants;Pulmonary surfactant metabolism dysfunction 2 0 PE1 -NX_P11712 55628 490 8.13 10 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P11717 274375 2491 5.64 6 Cytoplasmic vesicle;Lysosome membrane;Golgi apparatus NA 1 PE1 -NX_P11766 39724 374 7.45 4 Cytoplasm NA 0 PE1 -NX_P11801 48035 424 9.82 16 Endoplasmic reticulum membrane;Nucleus speckle;Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;Centrosome NA 0 PE1 -NX_P11802 33730 303 6.52 12 Nucleolus;Nucleus membrane;Cytosol;Cytoplasm;Nucleus;Membrane Melanoma, cutaneous malignant 3 0 PE1 -NX_P11831 51593 508 7.83 6 Nucleus NA 0 PE1 -NX_P11836 33077 297 5.04 11 Cell membrane Immunodeficiency, common variable, 5 4 PE1 -NX_P11844 20877 174 8.05 2 NA NA 0 PE1 -NX_P11908 34769 318 6.15 X NA NA 0 PE1 -NX_P11912 25038 226 4.87 19 Cell membrane Agammaglobulinemia 3, autosomal recessive 1 PE1 -NX_P11926 51148 461 5.1 2 Cytosol;Cell membrane NA 0 PE1 -NX_P11940 70671 636 9.52 8 Cytoplasm;Nucleus NA 0 PE1 -NX_P12004 28769 261 4.57 20 Nucleoplasm;Nucleus Ataxia-telangiectasia-like disorder 2 0 PE1 -NX_P12018 16605 145 6.3 22 NA NA 0 PE1 -NX_P12034 29551 268 10.54 4 Cytosol;Nucleolus;Nucleus;Secreted Trichomegaly 0 PE1 -NX_P12035 64417 628 6.12 12 NA Corneal dystrophy, Meesmann 0 PE1 -NX_P12036 112479 1026 5.99 22 Cytosol;Cytoplasm;Nucleolus Amyotrophic lateral sclerosis;Charcot-Marie-Tooth disease 2CC 0 PE1 -NX_P12074 12155 109 9.3 12 Mitochondrion;Mitochondrion inner membrane Charcot-Marie-Tooth disease, recessive, intermediate type, D 0 PE1 -NX_P12081 57411 509 5.72 5 Cytosol;Cytoplasm Usher syndrome 3B;Charcot-Marie-Tooth disease 2W 0 PE1 -NX_P12104 15207 132 6.62 4 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_P12107 181065 1806 5.06 1 Endoplasmic reticulum;Extracellular matrix Marshall syndrome;Stickler syndrome 2;Fibrochondrogenesis 1 0 PE1 -NX_P12109 108529 1028 5.26 21 Cytosol;Extracellular matrix Ullrich congenital muscular dystrophy 1;Bethlem myopathy 1 0 PE1 -NX_P12110 108579 1019 5.85 21 Cytosol;Membrane;Cell membrane;Extracellular matrix Ullrich congenital muscular dystrophy 1;Myosclerosis autosomal recessive;Bethlem myopathy 1 0 PE1 -NX_P12111 343669 3177 6.26 2 Extracellular matrix Ullrich congenital muscular dystrophy 1;Dystonia 27;Bethlem myopathy 1 0 PE1 -NX_P12235 33064 298 9.78 4 Mitochondrion inner membrane Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2;Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type;Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type 6 PE1 -NX_P12236 32866 298 9.76 X Mitochondrion inner membrane NA 6 PE1 -NX_P12259 251703 2224 5.68 1 Golgi apparatus;Secreted Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;Ischemic stroke;Factor V deficiency;Pregnancy loss, recurrent, 1 0 PE1 -NX_P12268 55805 514 6.44 3 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P12270 267293 2363 4.97 1 Kinetochore;Nucleus membrane;Cytoplasm;Nuclear pore complex;Nucleus envelope;Nucleus;Spindle NA 0 PE1 -NX_P12271 36474 317 4.98 15 Cytosol;Cytoplasm;Centrosome;Nucleoplasm Retinitis punctata albescens;Rod-cone dystrophy Newfoundland;Bothnia retinal dystrophy 0 PE1 -NX_P12272 20194 177 10.19 12 Golgi apparatus;Secreted;Cytosol;Cytoplasm;Nucleoplasm;Nucleus Brachydactyly E2 0 PE1 -NX_P12273 16572 146 8.26 7 Secreted NA 0 PE1 -NX_P12277 42644 381 5.34 14 Cytosol;Cytoplasm NA 0 PE1 -NX_P12314 42632 374 8.09 1 Cell membrane NA 1 PE1 -NX_P12318 35001 317 6.19 1 Cell membrane NA 1 PE1 -NX_P12319 29596 257 6.23 1 Cell membrane NA 1 PE1 -NX_P12429 36375 323 5.63 4 Cytosol NA 0 PE1 -NX_P12524 40327 364 5.47 1 Nucleus NA 0 PE1 -NX_P12525 40868 358 5.14 X Nucleus NA 0 PE5 -NX_P12532 47037 417 8.6 15 Mitochondrion inner membrane NA 0 PE1 -NX_P12544 28999 262 9.14 5 Cytoplasmic granule;Secreted NA 0 PE1 -NX_P12643 44702 396 9.15 20 Cytoplasmic vesicle;Secreted Brachydactyly A2;Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 0 PE1 -NX_P12644 46555 408 8.97 14 Extracellular matrix Non-syndromic orofacial cleft 11;Microphthalmia, syndromic, 6 0 PE1 -NX_P12645 53372 472 9.64 4 Secreted NA 0 PE1 -NX_P12694 50471 445 8.42 19 Mitochondrion matrix Maple syrup urine disease 1A 0 PE1 -NX_P12724 18385 160 10.12 14 Secreted NA 0 PE1 -NX_P12755 80005 728 7.73 1 Nucleoplasm;Nucleus Shprintzen-Goldberg craniosynostosis syndrome 0 PE1 -NX_P12757 76976 684 6.72 3 Cytosol;Nucleoplasm NA 0 PE1 -NX_P12814 103058 892 5.25 14 Ruffle;Cytoplasm;Cell membrane;Focal adhesion;Cytoskeleton;Cell junction;Z line Bleeding disorder, platelet-type 15 0 PE1 -NX_P12821 149715 1306 5.95 17 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Secreted Intracerebral hemorrhage;Ischemic stroke;Renal tubular dysgenesis;Microvascular complications of diabetes 3 1 PE1 -NX_P12829 21565 197 4.98 17 Cell membrane Atrial fibrillation, familial, 18 0 PE1 -NX_P12830 97456 882 4.58 16 Endosome;Golgi apparatus;trans-Golgi network;Cell membrane;Cell junction Ovarian cancer;Endometrial cancer;Blepharocheilodontic syndrome 1;Breast cancer, lobular;Hereditary diffuse gastric cancer 1 PE1 -NX_P12838 10504 97 8.3 8 Secreted NA 0 PE1 -NX_P12872 12920 115 6.14 6 Secreted NA 0 PE1 -NX_P12882 223145 1939 5.59 17 Myofibril NA 0 PE1 -NX_P12883 223097 1935 5.63 14 Sarcomere;Myofibril Left ventricular non-compaction 5;Cardiomyopathy, dilated 1S;Myopathy, myosin storage, autosomal recessive;Myopathy, myosin storage, autosomal dominant;Myopathy, distal, 1;Scapuloperoneal myopathy MYH7-related;Cardiomyopathy, familial hypertrophic 1 0 PE1 -NX_P12931 59835 536 7.1 20 Cytosol;Cell membrane;Perinuclear region;Nucleus;Mitochondrion inner membrane;Cytoskeleton Thrombocytopenia 6 0 PE1 -NX_P12955 54548 493 5.64 19 Nucleoplasm Prolidase deficiency 0 PE1 -NX_P12956 69843 609 6.23 22 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_P12980 29938 280 10.69 19 Nucleus;Golgi apparatus NA 0 PE1 -NX_P13010 82705 732 5.55 2 Nucleoplasm;Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_P13051 34645 313 9.37 12 Mitochondrion;Cytosol;Nucleus Immunodeficiency with hyper-IgM 5 0 PE1 -NX_P13056 67315 603 5.89 12 Cytosol;PML body;Nucleus;Cell junction NA 0 PE1 -NX_P13073 19577 169 9.52 16 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P13164 13964 125 7.78 11 Cytosol;Cell membrane NA 1 PE1 -NX_P13196 70581 640 8.74 3 Mitochondrion matrix;Mitochondrion;Nucleoplasm NA 0 PE1 -NX_P13224 21718 206 9.67 22 Membrane Bernard-Soulier syndrome 1 PE1 -NX_P13232 20187 177 8.87 8 Secreted NA 0 PE1 -NX_P13236 10212 92 5.13 17 Secreted NA 0 PE1 -NX_P13284 27964 250 4.79 19 Cytosol;Cytoplasmic vesicle;Lysosome;Secreted NA 0 PE1 -NX_P13349 28296 255 5.9 12 Nucleoplasm;Nucleus NA 0 PE2 -NX_P13378 31911 290 8.7 2 Nucleus NA 0 PE1 -NX_P13385 21169 188 8.54 3 Cell membrane;Secreted NA 0 PE1 -NX_P13473 44961 410 5.35 X Endosome membrane;Autophagosome membrane;Lysosome membrane;Cell membrane Danon disease 1 PE1 -NX_P13489 49973 461 4.71 11 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_P13497 111249 986 6.48 8 trans-Golgi network;Extracellular matrix Osteogenesis imperfecta 13 0 PE1 -NX_P13498 21013 195 9.58 16 Cell membrane Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive 0 PE1 -NX_P13500 11025 99 9.4 17 Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 -NX_P13501 9990 91 9.27 17 Secreted NA 0 PE1 -NX_P13521 70941 617 4.67 2 Secreted NA 0 PE1 -NX_P13533 223735 1939 5.58 14 Myofibril Cardiomyopathy, dilated 1EE;Atrial septal defect 3;Cardiomyopathy, familial hypertrophic 14;Sick sinus syndrome 3 0 PE1 -NX_P13535 222763 1937 5.59 17 Myofibril Arthrogryposis, distal, 7;Carney complex variant 0 PE1 -NX_P13569 168142 1480 8.91 7 Endoplasmic reticulum membrane;Apical cell membrane;Early endosome membrane;Cell membrane;Nucleus;Recycling endosome membrane Congenital bilateral absence of the vas deferens;Cystic fibrosis 12 PE1 -NX_P13584 58991 511 8.47 1 Endoplasmic reticulum membrane;Microsome membrane;Cytoplasmic vesicle NA 0 PE1 -NX_P13591 94574 858 4.79 11 Cytosol;Cell membrane;Secreted NA 1 PE1 -NX_P13598 30654 275 7.09 17 Cytosol;Microvillus;Membrane NA 1 PE1 -NX_P13611 372820 3396 4.43 5 Cytoplasmic vesicle;Extracellular matrix Wagner vitreoretinopathy 0 PE1 -NX_P13612 114900 1032 6.05 2 Cell membrane;Membrane NA 1 PE1 -NX_P13631 50342 454 7.44 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_P13637 111749 1013 5.22 19 Cell membrane Alternating hemiplegia of childhood 2;Dystonia 12;Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 10 PE1 -NX_P13639 95338 858 6.41 19 Cytosol;Cytoplasm;Nucleus;Cell membrane Spinocerebellar ataxia 26 0 PE1 -NX_P13640 6141 62 8.38 16 NA NA 0 PE1 -NX_P13645 58827 584 5.13 17 Extracellular space Erythroderma, ichthyosiform, congenital reticular;Ichthyosis annular epidermolytic;Epidermolytic hyperkeratosis 0 PE1 -NX_P13646 49588 458 4.91 17 Cytoskeleton White sponge nevus 2 0 PE1 -NX_P13647 62378 590 7.58 12 Cytoskeleton Epidermolysis bullosa simplex, with mottled pigmentation;Epidermolysis bullosa simplex, Dowling-Meara type;Epidermolysis bullosa simplex, autosomal recessive 1;Epidermolysis bullosa simplex, Weber-Cockayne type;Dowling-Degos disease 1;Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, with migratory circinate erythema 0 PE1 -NX_P13667 72932 645 4.96 7 Endoplasmic reticulum lumen;Melanosome;Endoplasmic reticulum NA 0 PE1 -NX_P13671 104786 934 6.39 5 Secreted Complement component 6 deficiency 0 PE1 -NX_P13674 61049 534 5.7 10 Cytoplasmic vesicle;Mitochondrion;Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 -NX_P13682 59089 527 8.44 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_P13686 36599 325 8.82 19 Cytosol;Lysosome Spondyloenchondrodysplasia with immune dysregulation 0 PE1 -NX_P13688 57560 526 5.65 19 Apical cell membrane;Secreted;Cell membrane;Basal cell membrane;Microvillus membrane;Adherens junction;Secretory vesicle membrane;Cell junction;Lateral cell membrane NA 1 PE1 -NX_P13693 19595 172 4.84 13 Cytoplasm NA 0 PE1 -NX_P13716 36295 330 6.32 9 NA Acute hepatic porphyria 0 PE1 -NX_P13725 28484 252 10.71 22 Secreted NA 0 PE1 -NX_P13726 33068 295 6.64 1 Cytoplasmic vesicle;Secreted;Membrane NA 1 PE1 -NX_P13727 25206 222 6.32 11 Secretory vesicle;Secreted NA 0 PE1 -NX_P13746 40937 365 5.77 6 Membrane NA 1 PE1 -NX_P13747 40058 358 5.52 6 Golgi apparatus membrane;Cell membrane;Secreted NA 1 PE1 -NX_P13760 30112 266 6.71 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 -NX_P13761 29822 266 7.04 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 -NX_P13762 29941 266 6.95 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 -NX_P13765 30822 273 6.31 6 Endosome membrane;Lysosome membrane NA 1 PE1 -NX_P13796 70288 627 5.29 13 Cytosol;Cell membrane;Ruffle membrane;Cytoskeleton;Cell projection;Cell junction NA 0 PE1 -NX_P13797 70811 630 5.41 X Cytosol;Cytoplasm;Cell membrane Osteoporosis 0 PE1 -NX_P13798 81225 732 5.29 3 Cytosol;Cytoplasm NA 0 PE1 -NX_P13804 35080 333 8.62 15 Mitochondrion matrix;Mitochondrion Glutaric aciduria 2A 0 PE1 -NX_P13805 32948 278 5.86 19 Cytosol;Nucleus;Golgi apparatus Nemaline myopathy 5 0 PE1 -NX_P13807 83786 737 5.8 19 Cytosol;Cytoskeleton Muscle glycogen storage disease 0 0 PE1 -NX_P13861 45518 404 4.96 3 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus;Cell membrane;Microtubule organizing center NA 0 PE1 -NX_P13866 73498 664 7.82 22 Cytoplasmic vesicle;Nucleoplasm;Membrane Congenital glucose/galactose malabsorption 13 PE1 -NX_P13928 36881 327 5.56 10 NA NA 0 PE1 -NX_P13929 46987 434 7.58 17 Cytoplasm Glycogen storage disease 13 0 PE1 -NX_P13942 171791 1736 5.89 6 Extracellular matrix Otospondylomegaepiphyseal dysplasia, autosomal dominant;Deafness, autosomal recessive, 53;Deafness, autosomal dominant, 13;Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, autosomal recessive 0 PE1 -NX_P13945 43519 408 9.39 8 Cell membrane NA 7 PE1 -NX_P13984 28380 249 9.24 13 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_P13985 24343 223 12.23 1 NA NA 0 PE5 -NX_P13987 14177 128 6.02 11 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Secreted Hemolytic anemia, CD59-mediated, with or without polyneuropathy 0 PE1 -NX_P13994 44802 396 8.47 19 Cytoplasmic vesicle NA 0 PE1 -NX_P13995 37895 350 8.86 2 Mitochondrion NA 0 PE1 -NX_P14060 42252 373 8.86 1 Endoplasmic reticulum membrane;Mitochondrion membrane NA 1 PE1 -NX_P14061 34950 328 5.46 17 Cytosol;Cytoplasm NA 0 PE1 -NX_P14091 42794 396 4.69 1 Endosome NA 0 PE1 -NX_P14136 49880 432 5.42 17 Cytoplasm;Cytoskeleton Alexander disease 0 PE1 -NX_P14138 25454 238 6.24 20 Secreted Congenital central hypoventilation syndrome;Waardenburg syndrome 4B;Hirschsprung disease 4 0 PE1 -NX_P14151 42187 372 6.2 1 Cytosol;Cell membrane NA 1 PE1 -NX_P14174 12476 115 7.73 22 Cytosol;Cytoplasm;Nucleoplasm;Secreted Rheumatoid arthritis systemic juvenile 0 PE1 -NX_P14207 29280 255 7.5 11 Cell membrane;Secreted NA 0 PE1 -NX_P14209 18848 185 4.58 X Golgi apparatus;Membrane NA 1 PE1 -NX_P14210 83134 728 8.22 7 Cytosol;Centrosome Deafness, autosomal recessive, 39 0 PE1 -NX_P14222 61377 555 8.04 10 Cytosol;Cytoplasmic granule lumen;Endosome lumen;Cell membrane;Secreted Familial hemophagocytic lymphohistiocytosis 2 0 PE1 -NX_P14314 59425 528 4.33 19 Endoplasmic reticulum Polycystic liver disease 1 with or without kidney cysts 0 PE1 -NX_P14316 39354 349 7.07 4 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P14317 54014 486 4.74 3 Cytosol;Cytoplasm;Mitochondrion;Cell membrane;Membrane NA 0 PE1 -NX_P14324 48275 419 5.83 1 Nucleoplasm;Cytoplasm;Cytosol Porokeratosis 9, multiple types 0 PE1 -NX_P14373 58490 513 5.83 6 Early endosome;Cytoplasm;Nucleolus;Nucleus;PML body NA 0 PE1 -NX_P14384 50514 443 6.94 12 Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_P14406 9396 83 9.75 6 Mitochondrion;Mitochondrion inner membrane;Cell membrane NA 0 PE1 -NX_P14410 209453 1827 5.38 3 Apical cell membrane Congenital sucrase-isomaltase deficiency 1 PE1 -NX_P14415 33367 290 8.57 17 Cell membrane NA 1 PE1 -NX_P14416 50619 443 9.55 11 Cell membrane NA 7 PE1 -NX_P14543 136377 1247 5.12 1 Basement membrane NA 0 PE1 -NX_P14550 36573 325 6.32 1 Nucleoplasm;Cytosol NA 0 PE1 -NX_P14555 16083 144 9.44 1 Nucleolus;Nucleus;Endoplasmic reticulum;Cell membrane;Secreted NA 0 PE1 -NX_P14598 44682 390 9.2 7 Cytosol;Membrane Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive 0 PE1 -NX_P14616 143720 1297 6.03 1 Membrane NA 1 PE1 -NX_P14618 57937 531 7.96 15 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P14621 11140 99 9.52 2 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_P14625 92469 803 4.76 12 Endoplasmic reticulum lumen;Melanosome;Endoplasmic reticulum NA 0 PE1 -NX_P14635 48337 433 7.09 5 Cytosol;Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_P14649 22764 208 5.56 12 Cytoplasmic vesicle NA 0 PE1 -NX_P14651 44340 431 9.27 17 Nucleus NA 0 PE1 -NX_P14652 37914 356 5.03 17 Nucleus NA 0 PE1 -NX_P14653 32193 301 6.45 17 Nucleus Facial paresis, hereditary congenital, 3 0 PE1 -NX_P14672 54787 509 6.48 17 Perinuclear region;Cell membrane;Endomembrane system Diabetes mellitus, non-insulin-dependent 12 PE1 -NX_P14678 24610 240 11.2 20 Cytosol;Nucleus Cerebrocostomandibular syndrome 0 PE1 -NX_P14679 60393 529 5.71 11 Cytoplasmic vesicle;Melanosome;Melanosome membrane Albinism, oculocutaneous, 1A;Albinism, oculocutaneous, 1B 1 PE1 -NX_P14735 117968 1019 6.16 10 Cytoplasm;Cell membrane;Secreted NA 0 PE1 -NX_P14770 19046 177 5.89 3 Membrane Bernard-Soulier syndrome 1 PE1 -NX_P14778 65402 569 8 2 Membrane;Cell membrane;Secreted NA 1 PE1 -NX_P14780 78458 707 5.69 20 Cytosol;Extracellular matrix Intervertebral disc disease;Metaphyseal anadysplasia 2 0 PE1 -NX_P14784 61117 551 4.93 22 Membrane NA 1 PE1 -NX_P14854 10192 86 6.54 19 Mitochondrion;Mitochondrion intermembrane space Mitochondrial complex IV deficiency 0 PE1 -NX_P14859 76472 743 6.34 1 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_P14866 64133 589 8.46 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P14867 51802 456 9.27 5 Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane Juvenile myoclonic epilepsy 5;Epilepsy, idiopathic generalized 13;Epileptic encephalopathy, early infantile, 19;Epilepsy, childhood absence 4 4 PE1 -NX_P14868 57136 501 6.11 2 Cytosol Hypomyelination with brainstem and spinal cord involvement and leg spasticity 0 PE1 -NX_P14902 45326 403 6.87 8 Cytosol NA 0 PE1 -NX_P14920 39474 347 6.36 12 Peroxisome Schizophrenia 0 PE1 -NX_P14921 50408 441 5.04 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P14923 81745 745 5.75 17 Cell membrane;Cytoplasmic vesicle;Desmosome;Membrane;Adherens junction;Cytoskeleton;Cell junction Arrhythmogenic right ventricular dysplasia, familial, 12;Naxos disease 0 PE1 -NX_P14927 13530 111 8.73 8 Mitochondrion;Cytoplasm;Nucleus;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 3 0 PE1 -NX_P15018 22008 202 9.44 22 Cytosol;Secreted NA 0 PE1 -NX_P15036 53001 469 4.93 21 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_P15056 84437 766 7.29 7 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Cell membrane Lung cancer;Colorectal cancer;Cardiofaciocutaneous syndrome 1;Noonan syndrome 7;LEOPARD syndrome 3;Familial non-Hodgkin lymphoma 0 PE1 -NX_P15085 47140 419 5.45 7 Secreted NA 0 PE1 -NX_P15086 47368 417 6.16 3 Secreted NA 0 PE1 -NX_P15088 48670 417 9.08 3 Secretory vesicle NA 0 PE1 -NX_P15090 14719 132 6.59 8 Cytoplasm;Nucleus NA 0 PE1 -NX_P15104 42064 373 6.43 1 Mitochondrion;Cytosol;Microsome;Cell membrane Congenital systemic glutamine deficiency 0 PE1 -NX_P15121 35853 316 6.51 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P15144 109540 967 5.31 15 Cell membrane NA 1 PE1 -NX_P15151 45303 417 6.07 19 Cytoplasmic vesicle;Nucleoplasm;Cell membrane;Secreted NA 1 PE1 -NX_P15153 21429 192 7.52 22 Cytoplasm Neutrophil immunodeficiency syndrome 0 PE1 -NX_P15169 52286 458 6.86 10 Extracellular space;Nucleolus;Nucleus Carboxypeptidase N deficiency 0 PE1 -NX_P15170 55756 499 5.45 16 Cytoplasmic vesicle;Cytoplasm;Cytosol NA 0 PE1 -NX_P15172 34501 320 5.56 11 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_P15173 25037 224 5.45 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_P15248 15909 144 8.93 5 Secreted NA 0 PE2 -NX_P15259 28766 253 8.99 7 Nucleoplasm;Cytosol Glycogen storage disease 10 0 PE1 -NX_P15260 54405 489 4.83 6 Cell membrane Immunodeficiency 27A;Immunodeficiency 27B 1 PE1 -NX_P15289 53588 507 5.65 22 Cytosol;Golgi apparatus;Endoplasmic reticulum;Lysosome Metachromatic leukodystrophy;Multiple sulfatase deficiency 0 PE1 -NX_P15291 43920 398 8.88 9 Golgi stack membrane;Golgi apparatus;Secreted;Cell membrane;Filopodium;Cell surface Congenital disorder of glycosylation 2D 1 PE1 -NX_P15309 44566 386 5.83 3 Lysosome membrane;Cell membrane;Secreted NA 0 PE1 -NX_P15311 69413 586 5.94 6 Apical cell membrane;Microvillus;Cell cortex;Cell membrane;Microvillus membrane;Ruffle membrane;Cytoskeleton;Cell projection NA 0 PE1 -NX_P15313 56833 513 5.44 2 Nucleus;Nucleus membrane;Endomembrane system Renal tubular acidosis, distal, with progressive nerve deafness 0 PE1 -NX_P15328 29819 257 8.3 11 Endosome;Apical cell membrane;Nucleus membrane;Secreted;Cell membrane;Cytoplasmic vesicle;Clathrin-coated vesicle Neurodegeneration due to cerebral folate transport deficiency 0 PE1 -NX_P15336 54537 505 7.75 2 Nucleoplasm;Cytoplasm;Nucleus;Mitochondrion outer membrane NA 0 PE1 -NX_P15374 26183 230 4.84 13 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P15382 14675 129 6.83 21 Apical cell membrane;Membrane raft;Cell membrane Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2 1 PE1 -NX_P15391 61128 556 4.87 16 Membrane Immunodeficiency, common variable, 3 1 PE1 -NX_P15407 29413 271 8.21 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P15408 35193 326 7.03 2 Nucleus NA 0 PE1 -NX_P15421 8463 78 9.51 4 Membrane NA 1 PE2 -NX_P15428 28977 266 5.56 4 Cytosol;Nucleoplasm;Cytoplasm Cranioosteoarthropathy;Isolated congenital nail clubbing;Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 0 PE1 -NX_P15498 98314 845 6.2 19 Cytosol NA 0 PE1 -NX_P15502 68398 786 10.4 7 Mitochondrion;Cell membrane;Extracellular matrix Supravalvular aortic stenosis;Cutis laxa, autosomal dominant, 1 0 PE1 -NX_P15509 46207 400 7.91 X Cell membrane;Secreted Pulmonary surfactant metabolism dysfunction 4 1 PE1 -NX_P15514 27895 252 7.01 4 Mitochondrion;Membrane NA 1 PE1 -NX_P15515 6963 57 9.1 4 Secreted NA 0 PE1 -NX_P15516 6149 51 10.09 4 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P15529 43747 392 6.34 1 Cell membrane;Acrosome inner membrane Hemolytic uremic syndrome atypical 2 1 PE1 -NX_P15531 17149 152 5.83 17 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_P15538 57573 503 9.4 8 Mitochondrion membrane Adrenal hyperplasia 4;Hyperaldosteronism, familial, 1 0 PE1 -NX_P15559 30868 274 8.91 16 Cytosol;Cytoplasm NA 0 PE1 -NX_P15586 62082 552 8.6 12 Lysosome Mucopolysaccharidosis 3D 0 PE1 -NX_P15621 76524 663 9 19 Nucleoplasm;Cytosol;Cytoskeleton;Nucleus NA 0 PE1 -NX_P15622 63468 560 8.65 8 Nucleus speckle;Nucleus NA 0 PE1 -NX_P15692 27042 232 9.21 6 Secreted Microvascular complications of diabetes 1 0 PE1 -NX_P15735 46442 406 5.95 16 Cytosol Glycogen storage disease 9C 0 PE1 -NX_P15812 43626 388 8.87 1 Lysosome lumen;Late endosome;Golgi apparatus membrane;Early endosome NA 1 PE1 -NX_P15813 37717 335 8.43 1 Endoplasmic reticulum membrane;Lysosome membrane;Basolateral cell membrane;Endoplasmic reticulum;Endosome membrane;Cell membrane NA 1 PE1 -NX_P15814 22963 213 10.1 22 Endoplasmic reticulum;Secreted Agammaglobulinemia 2, autosomal recessive 0 PE1 -NX_P15822 296865 2718 7.98 6 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_P15848 59687 533 8.43 5 Cell surface;Golgi apparatus;Lysosome Mucopolysaccharidosis 6;Multiple sulfatase deficiency 0 PE1 -NX_P15863 55499 534 9.9 20 Nucleus Otofaciocervical syndrome 2 0 PE1 -NX_P15880 31324 293 10.25 16 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_P15882 53172 459 6.51 2 Cytosol Duane retraction syndrome 2 0 PE1 -NX_P15884 71308 667 6.51 18 Cytosol;Nucleoplasm;Nucleus Corneal dystrophy, Fuchs endothelial, 3;Pitt-Hopkins syndrome 0 PE1 -NX_P15907 46605 406 9.13 3 Golgi stack membrane;Secreted NA 1 PE1 -NX_P15918 119097 1043 8.94 11 Nucleus Omenn syndrome;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive;Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity;Combined cellular and humoral immune defects with granulomas 0 PE1 -NX_P15923 67600 654 6 19 Nucleoplasm;Nucleus Agammaglobulinemia 8, autosomal dominant 0 PE1 -NX_P15924 331774 2871 6.44 6 Desmosome;Cytoskeleton;Cell junction;Cell membrane Keratoderma, palmoplantar, striate 2;Arrhythmogenic right ventricular dysplasia, familial, 8;Epidermolysis bullosa, lethal acantholytic;Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis;Skin fragility-woolly hair syndrome;Cardiomyopathy, dilated, with woolly hair and keratoderma 0 PE1 -NX_P15927 29247 270 5.75 1 Nucleoplasm;PML body;Nucleus NA 0 PE1 -NX_P15941 122102 1255 6.96 1 Cytoplasm;Apical cell membrane;Nucleus;Cell membrane;Secreted Medullary cystic kidney disease 1 1 PE1 -NX_P15954 7246 63 10.29 5 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_P15976 42751 413 9.03 X Nucleus Thrombocytopenia with beta-thalassemia, X-linked;Anemia without thrombocytopenia, X-linked;X-linked dyserythropoietic anemia and thrombocytopenia 0 PE1 -NX_P16035 24399 220 7.46 17 Cytoplasm;Secreted NA 0 PE1 -NX_P16050 74804 662 6.14 17 Cytosol;Lipid droplet;Cell membrane NA 0 PE1 -NX_P16066 118919 1061 6.19 1 Nucleolus;Nucleus;Cell membrane;Membrane NA 1 PE1 -NX_P16070 81538 742 5.13 11 Microvillus;Golgi apparatus;Cell membrane NA 1 PE1 -NX_P16083 25919 231 5.87 6 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P16104 15145 143 10.74 11 Nucleoplasm;Nucleus speckle;Nucleus;Chromosome NA 0 PE1 -NX_P16109 90834 830 6.17 1 Cell membrane Ischemic stroke 1 PE1 -NX_P16112 261329 2530 4.06 15 Extracellular matrix Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia type Kimberley 0 PE1 -NX_P16118 54681 471 6.14 X NA NA 0 PE1 -NX_P16144 202167 1822 5.74 17 Hemidesmosome;Cell junction;Cell membrane Epidermolysis bullosa simplex, Weber-Cockayne type;Generalized atrophic benign epidermolysis bullosa;Epidermolysis bullosa letalis, with pyloric atresia 1 PE1 -NX_P16150 40322 400 5.01 16 PML body;Uropodium;Golgi apparatus;Microvillus;Cell membrane;Nucleus;Membrane;Cell junction NA 1 PE1 -NX_P16152 30375 277 8.55 21 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P16157 206265 1881 5.65 8 Sarcoplasmic reticulum;Cytoskeleton;M line;Membrane Spherocytosis 1 0 PE1 -NX_P16188 40905 365 5.73 6 Membrane NA 1 PE1 -NX_P16189 41004 365 6.02 6 Membrane NA 1 PE1 -NX_P16190 40892 365 6.22 6 Membrane NA 1 PE1 -NX_P16219 44297 412 8.13 12 Mitochondrion;Mitochondrion matrix Acyl-CoA dehydrogenase short-chain deficiency 0 PE1 -NX_P16220 36688 341 5.46 2 Nucleoplasm;Nucleus Angiomatoid fibrous histiocytoma 0 PE1 -NX_P16233 51157 465 6.27 10 Secreted Pancreatic lipase deficiency 0 PE1 -NX_P16234 122670 1089 5.05 4 Golgi apparatus;Nucleus;Cilium;Cell membrane;Cell junction Gastrointestinal stromal tumor 1 PE1 -NX_P16260 36224 332 9.87 10 Mitochondrion;Mitochondrion inner membrane NA 6 PE1 -NX_P16278 76075 677 6.1 3 Cytoplasmic vesicle;Perinuclear region;Golgi apparatus;Lysosome GM1-gangliosidosis 1;GM1-gangliosidosis 3;GM1-gangliosidosis 2;Mucopolysaccharidosis 4B 0 PE1 -NX_P16284 82522 738 6.55 17 Cell junction;Cell membrane;Membrane raft NA 1 PE1 -NX_P16298 59024 524 5.6 10 Mitochondrion;Cytoplasm NA 0 PE1 -NX_P16333 42864 377 6.06 3 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Cell membrane NA 0 PE1 -NX_P16383 89385 781 5.71 2 Nucleoplasm;Nucleolus NA 0 PE1 -NX_P16389 56717 499 4.78 1 Endoplasmic reticulum membrane;Synaptosome;Synapse;Cell membrane;Axon;Dendrite;Lamellipodium membrane;Presynaptic cell membrane;Membrane;Paranodal septate junction Epileptic encephalopathy, early infantile, 32 6 PE1 -NX_P16401 22580 226 10.91 6 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_P16402 22350 221 11.02 6 Nucleus;Chromosome NA 0 PE1 -NX_P16403 21365 213 10.94 6 Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_P16410 24656 223 6.7 2 Cell membrane Systemic lupus erythematosus;Autoimmune lymphoproliferative syndrome 5;Diabetes mellitus, insulin-dependent, 12;Celiac disease 3 1 PE1 -NX_P16415 70270 610 9.04 19 Nucleus NA 0 PE1 -NX_P16422 34932 314 7.42 2 Cell membrane;Tight junction;Lateral cell membrane Diarrhea 5, with tufting enteropathy, congenital;Hereditary non-polyposis colorectal cancer 8 1 PE1 -NX_P16435 76690 677 5.38 7 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cytosol;Endoplasmic reticulum;Nucleoplasm Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency;Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis 1 PE1 -NX_P16442 40934 354 9.14 9 Golgi stack membrane;Secreted NA 1 PE1 -NX_P16444 45674 411 5.75 16 Microvillus membrane;Apical cell membrane;Nucleus;Cell junction NA 0 PE1 -NX_P16452 77009 691 8.39 15 Cytoskeleton;Cell membrane Spherocytosis 5 0 PE1 -NX_P16455 21646 207 8.28 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_P16471 69506 622 5.23 5 Membrane;Secreted Hyperprolactinemia;Multiple fibroadenomas of the breast 1 PE1 -NX_P16473 86830 764 6.56 14 Basolateral cell membrane;Cell membrane Hypothyroidism, congenital, non-goitrous, 1;Hyperthyroidism, non-autoimmune;Familial gestational hyperthyroidism 7 PE1 -NX_P16499 99547 860 5.48 5 Cell membrane Retinitis pigmentosa 43 0 PE1 -NX_P16519 70565 638 6.04 20 Cytoplasmic vesicle;Secretory vesicle;Secreted NA 0 PE1 -NX_P16520 37221 340 5.39 12 NA Night blindness, congenital stationary, 1H 0 PE1 -NX_P16562 27259 243 6.09 6 Secreted NA 0 PE1 -NX_P16581 66655 610 5.2 1 Cell membrane NA 1 PE1 -NX_P16591 94638 822 6.72 5 Cytosol;Cytoplasm;Cell cortex;Cell membrane;Nucleus;Membrane;Cytoskeleton;Cell projection;Cell junction NA 0 PE1 -NX_P16615 114757 1042 5.23 12 Endoplasmic reticulum membrane;Nucleoplasm;Sarcoplasmic reticulum membrane Acrokeratosis verruciformis;Darier disease 10 PE1 -NX_P16619 10161 93 4.77 17 Secreted NA 0 PE1 -NX_P16662 60721 529 8.54 4 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_P16671 53053 472 8.19 7 Apical cell membrane;Cell membrane;Golgi apparatus;Membrane raft Platelet glycoprotein IV deficiency;Coronary heart disease 7 2 PE1 -NX_P16860 14726 134 10.34 1 Secreted NA 0 PE1 -NX_P16870 53151 476 5.03 4 Secreted;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Secretory vesicle membrane;Centrosome NA 0 PE1 -NX_P16871 51579 459 5.27 5 Secreted;Cell membrane;Microtubule organizing center Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive;Multiple sclerosis 3 1 PE1 -NX_P16885 147870 1265 6.21 16 Cytoplasmic vesicle Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated;Familial cold autoinflammatory syndrome 3 0 PE1 -NX_P16930 46374 419 6.46 15 Cytosol Tyrosinemia 1 0 PE1 -NX_P16949 17303 149 5.76 1 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_P16989 40090 372 9.77 12 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P17010 90522 805 5.71 X Nucleus NA 0 PE1 -NX_P17014 81202 697 8.12 7 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 -NX_P17017 75353 642 9.36 19 Cytosol;Nucleus NA 0 PE1 -NX_P17019 57357 499 9.5 19 Nucleus NA 0 PE1 -NX_P17020 76472 682 8.31 8 Nucleolus;Nucleus NA 0 PE1 -NX_P17021 77204 662 8.81 19 Nucleus NA 0 PE1 -NX_P17022 62288 549 5.65 17 Cytosol;Nucleoplasm;Nucleus;Golgi apparatus;Cell membrane NA 0 PE1 -NX_P17023 52449 458 7.98 16 Mitochondrion;Nucleus NA 0 PE1 -NX_P17024 61567 532 8.94 19 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_P17025 73646 639 8.97 X Nucleus NA 0 PE1 -NX_P17026 25915 224 10.06 10 Nucleus NA 0 PE1 -NX_P17027 73059 643 8.49 16 Cytosol;Nucleus NA 0 PE1 -NX_P17028 42155 368 5.82 18 Nucleus NA 0 PE1 -NX_P17029 63630 563 6.6 7 Mitochondrion;Nucleus NA 0 PE1 -NX_P17030 53545 456 9.22 10 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE2 -NX_P17031 61282 533 9.12 12 Mitochondrion;Nucleus NA 0 PE1 -NX_P17032 65418 561 8.53 10 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P17035 83658 718 9.25 19 Nucleus NA 0 PE1 -NX_P17036 50916 446 7.31 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_P17038 94124 809 9.35 19 Nucleus NA 0 PE1 -NX_P17039 71417 623 9.27 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P17040 117541 1043 6.01 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_P17041 31029 273 9.52 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_P17050 46565 411 4.98 22 Lysosome Kanzaki disease;Schindler disease 0 PE1 -NX_P17066 71028 643 5.81 1 NA NA 0 PE1 -NX_P17081 22659 205 5.94 2 Cytosol;Cytoplasm;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_P17096 11676 107 10.31 6 Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_P17097 77887 686 8.67 8 Mitochondrion;Nucleus NA 0 PE1 -NX_P17098 64970 575 7.04 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_P17152 21541 192 6.98 17 Mitochondrion;Mitochondrion inner membrane;Cell membrane NA 2 PE1 -NX_P17174 46248 413 6.53 10 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_P17181 63525 557 5.58 21 Cytosol;Late endosome;Cell membrane;Lysosome NA 1 PE1 -NX_P17213 53900 487 9.41 20 Cytoplasmic granule membrane;Secreted NA 0 PE1 -NX_P17252 76750 672 6.61 17 Cytosol;Cytoplasm;Nucleus;Mitochondrion membrane;Cell membrane NA 0 PE1 -NX_P17275 35879 347 9.27 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_P17301 129295 1181 5.16 5 Cytosol;Nucleus;Membrane NA 1 PE1 -NX_P17302 43008 382 8.96 6 Gap junction;Nucleoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane;Cell junction Palmoplantar keratoderma and congenital alopecia 1;Oculodentodigital dysplasia, autosomal recessive;Craniometaphyseal dysplasia, autosomal recessive;Hallermann-Streiff syndrome;Atrioventricular septal defect 3;Syndactyly 3;Oculodentodigital dysplasia;Hypoplastic left heart syndrome 1;Erythrokeratodermia variabilis et progressiva 3 4 PE1 -NX_P17342 59808 541 5.93 5 Cytosol;Membrane NA 1 PE1 -NX_P17405 69936 631 6.9 11 Secreted;Lysosome Niemann-Pick disease A;Niemann-Pick disease B 0 PE1 -NX_P17480 89406 764 5.63 17 Nucleolus Neurodegeneration, childhood-onset, with brain atrophy 0 PE1 -NX_P17481 27574 243 8.48 17 Nucleoplasm;Nucleus NA 0 PE1 -NX_P17482 28059 250 9.01 17 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_P17483 27604 251 9.82 17 Nucleus;Centrosome NA 0 PE1 -NX_P17509 25432 224 8.45 17 Nucleus;Golgi apparatus NA 0 PE1 -NX_P17516 37067 323 6.46 10 Cytoplasm 46,XY sex reversal 8 0 PE1 -NX_P17535 35174 347 6.86 19 Nucleus NA 0 PE1 -NX_P17538 27713 263 6.79 16 Extracellular space NA 0 PE1 -NX_P17540 47504 419 8.46 5 Mitochondrion inner membrane NA 0 PE1 -NX_P17542 34271 331 7.81 1 Nucleus NA 0 PE1 -NX_P17544 52967 494 8.88 12 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_P17568 16402 137 9.1 19 Cytoplasm;Mitochondrion inner membrane;Mitochondrion intermembrane space NA 0 PE1 -NX_P17600 74111 705 9.84 X Synapse;Golgi apparatus Epilepsy X-linked, with variable learning disabilities and behavior disorders 0 PE1 -NX_P17612 40590 351 8.84 19 Flagellum;Acrosome;Cytoplasm;Cell membrane;Nucleus;Membrane;Mitochondrion Primary pigmented nodular adrenocortical disease 4 0 PE1 -NX_P17643 60724 537 5.62 9 Cytoplasmic vesicle;Melanosome;Melanosome membrane Albinism, oculocutaneous, 3 1 PE1 -NX_P17655 79995 700 4.87 1 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_P17658 58729 529 4.9 12 Cell membrane NA 6 PE1 -NX_P17661 53536 470 5.21 2 Cytoplasm;Cytoskeleton;Nucleus;Sarcolemma;Z line Neurogenic scapuloperoneal syndrome Kaeser type;Cardiomyopathy, dilated 1I;Limb-girdle muscular dystrophy 2R;Myopathy, myofibrillar, 1 0 PE1 -NX_P17676 36106 345 8.55 20 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P17677 24803 238 4.64 3 Filopodium membrane;Cytoplasm;Synapse;Cell membrane;Growth cone membrane NA 0 PE1 -NX_P17693 38224 338 5.47 6 Endoplasmic reticulum membrane;Secreted;Early endosome membrane;Cell membrane;Early endosome;Filopodium membrane NA 1 PE1 -NX_P17706 48473 415 8.51 18 Endoplasmic reticulum-Golgi intermediate compartment;Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_P17707 38340 334 5.71 6 Nucleoplasm NA 0 PE1 -NX_P17735 50399 454 5.92 16 NA Tyrosinemia 2 0 PE1 -NX_P17752 50985 444 6.77 11 Cytosol NA 0 PE1 -NX_P17787 57019 502 6.33 1 Postsynaptic cell membrane;Cell membrane Epilepsy, nocturnal frontal lobe, 3 4 PE1 -NX_P17812 66690 591 6.02 1 Cytosol;Cytoskeleton Immunodeficiency 24 0 PE1 -NX_P17813 70578 658 6.14 9 Cell membrane Telangiectasia, hereditary hemorrhagic, 1 1 PE1 -NX_P17844 69148 614 9.06 17 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P17858 85018 780 7.26 21 Mitochondrion;Cytoplasm;Nucleolus NA 0 PE1 -NX_P17861 28695 261 9.71 22 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Endoplasmic reticulum;Membrane Major affective disorder 7 1 PE1 -NX_P17900 20838 193 5.17 5 Lysosome GM2-gangliosidosis AB 0 PE1 -NX_P17927 223663 2039 6.57 1 Membrane NA 1 PE1 -NX_P17931 26152 250 8.58 14 Secreted;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus NA 0 PE1 -NX_P17936 31674 291 9.03 7 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Secreted NA 0 PE1 -NX_P17947 31083 270 6.31 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_P17948 150769 1338 8.66 13 Cytoplasm;Endosome;Cytoskeleton;Cell membrane;Secreted NA 1 PE1 -NX_P17980 49204 439 5.13 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P17987 60344 556 5.8 6 Cytosol;Cytoplasm;Centrosome NA 0 PE1 -NX_P18031 49967 435 5.88 20 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 0 PE1 -NX_P18054 75694 663 5.82 17 Cytosol;Nucleus speckle;Membrane Esophageal cancer;Colorectal cancer 0 PE1 -NX_P18065 34814 325 7.48 2 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_P18074 86909 760 6.72 19 Nucleoplasm;Spindle;Nucleus Trichothiodystrophy 1, photosensitive;Xeroderma pigmentosum complementation group D;Cerebro-oculo-facio-skeletal syndrome 2 0 PE1 -NX_P18075 49313 431 7.74 20 Cytoplasmic vesicle;Nucleolus;Nucleus;Secreted NA 0 PE1 -NX_P18077 12538 110 11.07 3 NA Diamond-Blackfan anemia 5 0 PE1 -NX_P18084 88054 799 5.72 3 Mitochondrion;Cell membrane;Membrane NA 1 PE1 -NX_P18085 20511 180 6.6 3 Golgi apparatus;Membrane NA 0 PE1 -NX_P18089 49954 450 8.8 2 Cell membrane Epilepsy, familial adult myoclonic, 2 7 PE1 -NX_P18124 29226 248 10.66 8 Cytosol;Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_P18146 57507 543 8.51 5 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P18206 123799 1134 5.5 10 Cytoplasm;Cell membrane;Focal adhesion;Sarcolemma;Adherens junction;Cytoskeleton Cardiomyopathy, dilated 1W;Cardiomyopathy, familial hypertrophic 15 0 PE1 -NX_P18283 21954 190 7.64 14 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P18405 29459 259 9.19 5 Endoplasmic reticulum membrane;Microsome membrane NA 5 PE1 -NX_P18428 53384 481 6.23 20 Cytoplasmic granule membrane;Secreted NA 0 PE1 -NX_P18433 90719 802 6.23 20 Cytoplasmic vesicle;Nucleus;Membrane NA 1 PE1 -NX_P18440 33899 290 6.09 8 Cytoplasm NA 0 PE1 -NX_P18462 41218 365 6.09 6 Membrane NA 1 PE1 -NX_P18463 40456 362 5.78 6 Membrane NA 1 PE1 -NX_P18464 40566 362 5.96 6 Membrane NA 1 PE1 -NX_P18465 40224 362 5.89 6 Membrane NA 1 PE1 -NX_P18505 54235 474 8.88 4 Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, early infantile, 45 4 PE1 -NX_P18507 54162 467 8.72 5 Dendrite;Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane Generalized epilepsy with febrile seizures plus 3;Epilepsy, childhood absence 2;Febrile seizures, familial, 8 4 PE1 -NX_P18509 18835 176 9.83 18 Secreted NA 0 PE1 -NX_P18510 20055 177 5.83 2 Cytoplasm;Secreted Microvascular complications of diabetes 4;Interleukin 1 receptor antagonist deficiency 0 PE1 -NX_P18545 9643 87 9.52 17 NA Retinitis pigmentosa 57 0 PE1 -NX_P18564 85936 788 5.34 2 Nucleoplasm;Centrosome;Focal adhesion;Cell junction;Membrane Amelogenesis imperfecta 1H 1 PE1 -NX_P18577 45560 417 9.45 1 Membrane Rh-null, amorph type 11 PE1 -NX_P18583 263830 2426 5.5 21 Nucleus speckle;Nucleus ZTTK syndrome 0 PE1 -NX_P18615 43240 380 9.36 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_P18621 21397 184 10.18 18 Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P18627 57449 525 8.14 12 Membrane NA 1 PE1 -NX_P18669 28804 254 6.67 10 NA NA 0 PE1 -NX_P18754 44969 421 7.18 1 Cytoplasm;Nucleus;Chromosome;Nucleus membrane NA 0 PE1 -NX_P18825 49522 462 10.32 4 Cell membrane NA 7 PE2 -NX_P18827 32462 310 4.53 2 Focal adhesion;Secreted;Exosome;Membrane NA 1 PE1 -NX_P18846 29233 271 8.44 12 Nucleoplasm;Nucleus Angiomatoid fibrous histiocytoma 0 PE1 -NX_P18847 20576 181 8.8 1 Nucleolus;Nucleus NA 0 PE1 -NX_P18848 38590 351 4.83 22 Cytosol;Cytoplasm;Cell membrane;Microtubule organizing center;Nucleus;Centrosome NA 0 PE1 -NX_P18850 74585 670 8.36 1 Cytosol;Endoplasmic reticulum membrane;Nucleus Achromatopsia 7 1 PE1 -NX_P18858 101736 919 5.49 19 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_P18859 12588 108 9.52 21 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P18887 69477 633 6.02 19 Nucleoplasm;Nucleus Spinocerebellar ataxia, autosomal recessive, 26 0 PE1 -NX_P19012 49212 456 4.71 17 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_P19013 57285 534 6.25 12 Cytoskeleton White sponge nevus 1 0 PE1 -NX_P19021 108332 973 5.98 5 Cytosol;Secreted;Golgi apparatus;Membrane NA 1 PE1 -NX_P19022 99809 906 4.64 18 Sarcolemma;Cell surface;Cell junction;Cell membrane NA 1 PE1 -NX_P19075 26044 237 5.48 12 Nucleoplasm;Membrane NA 4 PE1 -NX_P19086 40924 355 7.53 22 Cytoplasmic vesicle;Membrane NA 0 PE1 -NX_P19087 40176 354 5.1 1 NA Achromatopsia 4 0 PE1 -NX_P19099 57560 503 9.47 8 Mitochondrion membrane Hyperaldosteronism, familial, 1;Corticosterone methyloxidase 1 deficiency;Corticosterone methyloxidase 2 deficiency 0 PE1 -NX_P19105 19794 171 4.67 18 NA NA 0 PE1 -NX_P19113 74141 662 8.3 15 NA NA 0 PE1 -NX_P19174 148532 1290 5.73 20 Cytosol;Lamellipodium;Ruffle NA 0 PE1 -NX_P19224 60751 532 8.66 2 Endoplasmic reticulum membrane;Microsome NA 1 PE1 -NX_P19235 55065 508 4.64 19 Cytoplasmic vesicle;Cell membrane;Secreted Erythrocytosis, familial, 1 1 PE1 -NX_P19237 21692 187 9.61 1 Nucleolus;Nucleus NA 0 PE1 -NX_P19256 28147 250 6.3 1 Cell membrane NA 1 PE1 -NX_P19320 81276 739 5.14 1 Cell junction;Membrane NA 1 PE1 -NX_P19338 76614 710 4.6 2 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P19367 102486 917 6.36 10 Mitochondrion;Mitochondrion outer membrane Neuropathy, hereditary motor and sensory, Russe type;Retinitis pigmentosa 79;Hexokinase deficiency 0 PE1 -NX_P19387 31441 275 4.79 16 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_P19388 24551 210 5.69 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_P19397 24341 219 7.48 1 Cell junction;Cell membrane;Membrane NA 4 PE1 -NX_P19404 27392 249 8.22 18 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P19419 44888 428 6.42 X Nucleoplasm;Nucleus NA 0 PE1 -NX_P19429 24008 210 9.87 19 Cytosol;Cytoplasmic vesicle Cardiomyopathy, dilated 1FF;Cardiomyopathy, dilated 2A;Cardiomyopathy, familial restrictive 1;Cardiomyopathy, familial hypertrophic 7 0 PE1 -NX_P19438 50495 455 6.23 12 Golgi apparatus membrane;Cell membrane;Secreted Multiple sclerosis 5;Familial hibernian fever 1 PE1 -NX_P19440 61410 569 6.65 22 Cell membrane Glutathionuria 1 PE1 -NX_P19447 89278 782 6.83 2 Nucleoplasm;Nucleus Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum complementation group B 0 PE1 -NX_P19474 54170 475 5.98 11 Nucleoplasm;Cytoplasm;P-body;Nucleus;Autophagosome NA 0 PE1 -NX_P19484 52865 476 5.87 6 Cytoplasm;Nucleus NA 0 PE1 -NX_P19525 62094 551 8.58 2 Cytosol;Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 -NX_P19526 41251 365 6.92 19 Golgi stack membrane NA 1 PE1 -NX_P19532 61521 575 5.41 X Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P19544 49188 449 9.23 11 Nucleoplasm;Nucleus speckle;Nucleolus;Nucleus;Cytoplasm Frasier syndrome;Denys-Drash syndrome;Mesothelioma, malignant;Meacham syndrome;Nephrotic syndrome 4;Wilms tumor 1 0 PE1 -NX_P19622 34211 333 9.49 7 Nucleolus;Nucleus NA 0 PE1 -NX_P19623 33825 302 5.3 1 Nucleoplasm;Cytosol NA 0 PE1 -NX_P19634 90763 815 6.74 1 Endoplasmic reticulum membrane;Cell membrane;Membrane Lichtenstein-Knorr syndrome 12 PE1 -NX_P19652 23603 201 5.03 9 Secreted NA 0 PE1 -NX_P19784 41213 350 8.65 16 Nucleoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_P19793 50811 462 7.92 9 Nucleus;Golgi apparatus NA 0 PE1 -NX_P19801 85378 751 6.6 7 Extracellular space NA 0 PE1 -NX_P19823 106463 946 6.4 10 Golgi apparatus;Secreted NA 0 PE1 -NX_P19827 101389 911 6.31 3 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P19835 79322 753 5.13 9 Secreted Maturity-onset diabetes of the young 8 with exocrine dysfunction 0 PE1 -NX_P19838 105356 968 5.2 4 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Immunodeficiency, common variable, 12 0 PE1 -NX_P19875 11389 107 10.57 4 Secreted NA 0 PE1 -NX_P19876 11342 107 10.4 4 Secreted NA 0 PE1 -NX_P19878 59762 526 5.88 1 Cytosol;Cytoplasm;Nucleolus Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive 0 PE1 -NX_P19883 38007 344 5.53 5 Secreted NA 0 PE1 -NX_P19957 12270 117 9.14 20 Cell membrane;Secreted NA 0 PE1 -NX_P19961 57710 511 6.64 1 Secreted NA 0 PE1 -NX_P19971 49955 482 5.36 22 Nucleus;Golgi apparatus Mitochondrial DNA depletion syndrome 1, MNGIE type 0 PE1 -NX_P20020 134685 1220 5.65 12 Cell membrane NA 10 PE1 -NX_P20023 112916 1033 7.74 1 Membrane Immunodeficiency, common variable, 7;Systemic lupus erythematosus 9 1 PE1 -NX_P20036 29381 260 5.07 6 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane NA 1 PE1 -NX_P20039 30160 266 6.71 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 -NX_P20042 38388 333 5.6 20 Cytoplasm;Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_P20061 48207 433 4.96 11 Secreted NA 0 PE1 -NX_P20062 47535 427 6.52 22 Cytosol;Secreted Transcobalamin II deficiency 0 PE1 -NX_P20073 52739 488 5.52 10 Nucleoplasm;Cytosol NA 0 PE1 -NX_P20132 34625 328 8.15 12 Cytosol;Cytoplasm;Mitochondrion NA 0 PE1 -NX_P20138 39825 364 8.68 19 Nucleus;Cell membrane;Peroxisome NA 1 PE1 -NX_P20142 42426 388 4.36 6 Nucleus;Secreted NA 0 PE1 -NX_P20151 28671 261 6.44 19 NA NA 0 PE1 -NX_P20155 9291 84 9.3 4 Secreted NA 0 PE1 -NX_P20160 26886 251 9.75 19 Cytoplasmic granule membrane NA 0 PE1 -NX_P20226 37698 339 9.8 6 Nucleoplasm;Nucleus Spinocerebellar ataxia 17 0 PE1 -NX_P20231 30515 275 6.62 16 Secreted NA 0 PE1 -NX_P20248 48551 432 6.1 4 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_P20264 50327 500 7.51 2 Nucleus NA 0 PE1 -NX_P20265 46893 443 7.51 6 Nucleus NA 0 PE1 -NX_P20273 95348 847 6.21 19 Cell membrane NA 1 PE1 -NX_P20290 22168 206 9.41 5 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P20292 18157 161 8.58 13 Endoplasmic reticulum membrane;Nucleus membrane Ischemic stroke 4 PE1 -NX_P20309 66128 590 9.33 1 Basolateral cell membrane;Postsynaptic cell membrane;Cell membrane Prune belly syndrome 7 PE1 -NX_P20333 48291 461 5.88 1 Cell membrane;Secreted NA 1 PE1 -NX_P20336 24984 220 4.85 19 Nucleoplasm;Cytosol;Centrosome;Cell membrane NA 0 PE1 -NX_P20337 24758 219 4.85 1 Golgi apparatus;Cell junction;Cell membrane NA 0 PE1 -NX_P20338 24390 218 5.82 1 Cytoplasm;Early endosome membrane;Recycling endosome membrane;Membrane NA 0 PE1 -NX_P20339 23659 215 8.32 3 Endosome membrane;Ruffle;Cytosol;Early endosome membrane;Cell membrane;Cytoplasmic vesicle;Membrane;Phagosome membrane;Melanosome NA 0 PE1 -NX_P20340 23593 208 5.42 11 Golgi apparatus membrane NA 0 PE1 -NX_P20366 15003 129 8.89 7 Secreted NA 0 PE1 -NX_P20382 18679 165 6.74 12 Secreted NA 0 PE1 -NX_P20393 66805 614 8.83 17 Dendrite;Nucleus;Dendritic spine;Cytoplasm NA 0 PE1 -NX_P20396 27404 242 5.34 3 Secreted NA 0 PE1 -NX_P20472 12059 110 4.98 22 Nucleoplasm;Nucleolus;Cell junction NA 0 PE1 -NX_P20585 127412 1137 8.2 5 Nucleus Endometrial cancer;Familial adenomatous polyposis 4 0 PE1 -NX_P20591 75520 662 5.6 21 Endoplasmic reticulum membrane;Nucleus membrane;Cytosol;Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 -NX_P20592 82089 715 8.91 21 Cytoplasm;Nuclear pore complex;Nucleus NA 0 PE1 -NX_P20594 117022 1047 6.41 9 Cell membrane Epiphyseal chondrodysplasia, Miura type;Short stature with non-specific skeletal abnormalities;Acromesomelic dysplasia, Maroteaux type 1 PE1 -NX_P20618 26489 241 8.27 6 Cytoplasm;Nucleus NA 0 PE1 -NX_P20645 30993 277 5.57 12 Lysosome membrane NA 1 PE1 -NX_P20648 114119 1035 5.58 19 Cell membrane NA 10 PE1 -NX_P20671 14107 130 10.9 6 Nucleus;Chromosome NA 0 PE1 -NX_P20674 16762 150 6.3 15 Mitochondrion inner membrane NA 0 PE1 -NX_P20700 66408 586 5.11 5 Nucleus inner membrane;Nucleus;Nucleus membrane Leukodystrophy, demyelinating, autosomal dominant, adult-onset 0 PE1 -NX_P20701 128770 1170 5.4 16 Cell membrane NA 1 PE1 -NX_P20702 127829 1163 6.19 16 Membrane NA 1 PE1 -NX_P20711 53926 480 6.77 7 Cytoskeleton Aromatic L-amino-acid decarboxylase deficiency 0 PE1 -NX_P20718 27315 246 9.83 14 Cytoplasmic granule NA 0 PE1 -NX_P20719 29345 270 9.32 7 Nucleus NA 0 PE1 -NX_P20742 163863 1482 5.97 12 Secreted NA 0 PE1 -NX_P20749 47584 454 8.72 19 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Perinuclear region;Nucleus;Midbody NA 0 PE1 -NX_P20774 33922 298 5.46 9 Endoplasmic reticulum;Extracellular matrix NA 0 PE1 -NX_P20783 29355 257 9.46 12 Secreted NA 0 PE1 -NX_P20794 70581 623 9.67 6 Photoreceptor outer segment;Midbody;Nucleus;Photoreceptor inner segment;Spindle;Centrosome Retinitis pigmentosa 62 0 PE1 -NX_P20800 19960 178 10.3 1 Cytosol;Secreted NA 0 PE1 -NX_P20807 94254 821 5.81 15 Cytoplasm Limb-girdle muscular dystrophy 2A 0 PE1 -NX_P20809 21429 199 10.64 19 Mitochondrion;Secreted NA 0 PE1 -NX_P20810 76573 708 4.98 5 Cytosol;Cytoplasm;Endoplasmic reticulum Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 0 PE1 -NX_P20813 56278 491 8.43 19 Endoplasmic reticulum membrane;Microsome membrane;Cytosol;Nucleus membrane;Nucleoplasm NA 0 PE1 -NX_P20815 57109 502 8.86 7 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P20823 67356 631 5.82 12 Nucleoplasm;Nucleus Diabetes mellitus, insulin-dependent, 20;Hepatic adenomas familial;Maturity-onset diabetes of the young 3 0 PE1 -NX_P20827 23787 205 6.34 1 Cell membrane;Secreted NA 0 PE1 -NX_P20839 55406 514 6.43 7 Cytoplasm;Nucleus Leber congenital amaurosis 11;Retinitis pigmentosa 10 0 PE1 -NX_P20848 47891 420 7.73 14 Endoplasmic reticulum NA 0 PE1 -NX_P20849 91869 921 8.94 6 Extracellular matrix Multiple epiphyseal dysplasia 6;Stickler syndrome 4 0 PE1 -NX_P20851 28357 252 5.05 1 Secreted NA 0 PE1 -NX_P20853 56425 494 7.69 19 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P20908 183560 1838 4.94 9 Cytoplasmic vesicle;Extracellular matrix Ehlers-Danlos syndrome, classic type, 1 0 PE1 -NX_P20916 69069 626 4.97 19 Membrane raft;Cell membrane Spastic paraplegia 75, autosomal recessive 1 PE1 -NX_P20929 772914 6669 9.11 2 Sarcomere;Cytoskeleton Nemaline myopathy 2 0 PE1 -NX_P20930 435170 4061 9.24 1 Cytoplasmic vesicle;Cytoplasmic granule Dermatitis atopic 2;Ichthyosis vulgaris 0 PE1 -NX_P20933 37208 346 5.86 4 Lysosome Aspartylglucosaminuria 0 PE1 -NX_P20936 116403 1047 6.11 5 Cytoplasm Parkes Weber syndrome;Capillary malformation-arteriovenous malformation 0 PE1 -NX_P20941 28246 246 5.08 1 Photoreceptor inner segment;Cytosol;Nucleus;Photoreceptor outer segment NA 0 PE1 -NX_P20962 11530 102 4.14 12 Nucleolus;Nucleus NA 0 PE1 -NX_P20963 18696 164 9.28 1 Membrane Immunodeficiency 25 1 PE1 -NX_P21108 34839 318 5.92 7 NA NA 0 PE1 -NX_P21127 92620 795 5.42 1 Cytoplasm;Nucleus NA 0 PE1 -NX_P21128 46872 410 5.26 12 Secreted NA 0 PE1 -NX_P21145 16714 153 5.55 2 Centrosome;Golgi apparatus;Membrane NA 4 PE1 -NX_P21217 42117 361 9.16 19 Golgi stack membrane NA 1 PE1 -NX_P21246 18942 168 9.66 7 Golgi apparatus;Secreted NA 0 PE1 -NX_P21266 26560 225 5.37 1 Cytoplasm NA 0 PE1 -NX_P21281 56501 511 5.57 8 Cytoplasmic vesicle;Melanosome;Endomembrane system Zimmermann-Laband syndrome 2;Deafness, congenital, with onychodystrophy, autosomal dominant 0 PE1 -NX_P21283 43942 382 7.02 8 Cytosol;Nucleoplasm NA 0 PE1 -NX_P21291 20567 193 8.9 1 Nucleus NA 0 PE1 -NX_P21333 280739 2647 5.7 X Cytosol;Cytoskeleton;Cell cortex;Cell membrane FG syndrome 2;Frontometaphyseal dysplasia 1;Periventricular nodular heterotopia 1;Cardiac valvular dysplasia X-linked;Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked;Otopalatodigital syndrome 1;Melnick-Needles syndrome;Otopalatodigital syndrome 2;Terminal osseous dysplasia;Congenital short bowel syndrome, X-linked 0 PE1 -NX_P21359 319372 2839 7.1 17 Mitochondrion;Nucleolus;Nucleus Familial spinal neurofibromatosis;Colorectal cancer;Neurofibromatosis-Noonan syndrome;Neurofibromatosis 1;Leukemia, juvenile myelomonocytic;Watson syndrome 0 PE1 -NX_P21397 59682 527 7.94 X Mitochondrion;Mitochondrion outer membrane Brunner syndrome 1 PE1 -NX_P21399 98399 889 6.23 9 Cytosol;Cytoplasm;Mitochondrion NA 0 PE1 -NX_P21439 141523 1286 8.65 7 Apical cell membrane;Nucleoplasm;Cytoplasm;Cell membrane;Focal adhesion;Cytoskeleton;Clathrin-coated vesicle;Membrane raft Gallbladder disease 1;Cholestasis of pregnancy, intrahepatic 3;Cholestasis, progressive familial intrahepatic, 3 12 PE1 -NX_P21452 44442 398 8.86 10 Cell membrane NA 7 PE1 -NX_P21453 42811 382 9.59 1 Cytoplasmic vesicle;Endosome;Membrane raft;Cell membrane NA 7 PE1 -NX_P21462 38446 350 9.23 19 Nucleolus;Nucleus;Cell membrane;Golgi apparatus NA 7 PE1 -NX_P21506 66455 573 8.68 12 Cytoplasmic vesicle;Nucleus;Cell membrane NA 0 PE1 -NX_P21549 43010 392 8.61 2 Mitochondrion;Cytoplasmic vesicle;Peroxisome Hyperoxaluria primary 1 0 PE1 -NX_P21554 52858 472 8.47 6 Axon;Membrane raft;Cell membrane;Mitochondrion outer membrane Obesity 7 PE1 -NX_P21579 47573 422 8.26 12 Cytoplasm;Synaptic vesicle membrane;Chromaffin granule membrane;Secretory vesicle membrane NA 1 PE1 -NX_P21580 89614 790 8.61 6 Cytoplasmic vesicle;Cytoplasm;Nucleus;Lysosome Autoinflammatory syndrome, familial, Behcet-like 0 PE1 -NX_P21583 30899 273 5.86 12 Secreted;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Filopodium;Lamellipodium;Cytoskeleton Deafness, congenital, unilateral or asymmetric;Hyperpigmentation with or without hypopigmentation, familial progressive 1 PE1 -NX_P21589 63368 574 6.58 6 Cytosol;Nucleoplasm;Cell membrane Calcification of joints and arteries 0 PE1 -NX_P21673 20024 171 5.09 X Cytoplasm;Nucleus Keratosis follicularis spinulosa decalvans X-linked 0 PE1 -NX_P21675 212677 1872 4.97 X Nucleoplasm;Nucleus Mental retardation, X-linked, syndromic, 33;Dystonia 3, torsion, X-linked 0 PE1 -NX_P21695 37568 349 5.81 12 Cytoplasm Hypertriglyceridemia, transient infantile 0 PE1 -NX_P21709 108127 976 6.2 7 Cell membrane NA 1 PE1 -NX_P21728 49293 446 8.64 5 Endoplasmic reticulum membrane;Cell membrane NA 7 PE1 -NX_P21730 39336 350 9.22 19 Cytoplasmic vesicle;Cell membrane NA 7 PE1 -NX_P21731 37431 343 10 19 Nucleus speckle;Cell membrane Bleeding disorder, platelet-type 13 7 PE1 -NX_P21741 15585 143 9.84 11 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P21754 47018 424 5.49 7 Cytoplasm;Cell membrane;Extracellular matrix Oocyte maturation defect 3 1 PE1 -NX_P21757 49762 451 5.61 8 Membrane Barrett esophagus;Prostate cancer 1 PE1 -NX_P21781 22509 194 9.29 15 Nucleolus;Nucleus;Secreted NA 0 PE1 -NX_P21796 30773 283 8.62 5 Cytosol;Membrane raft;Cell membrane;Mitochondrion outer membrane NA 19 PE1 -NX_P21802 92025 821 5.61 10 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Secreted Lacrimo-auriculo-dento-digital syndrome;Pfeiffer syndrome;Familial scaphocephaly syndrome;Saethre-Chotzen syndrome;Crouzon syndrome;Jackson-Weiss syndrome;Beare-Stevenson cutis gyrata syndrome;Bent bone dysplasia syndrome;Apert syndrome;Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis 1 PE1 -NX_P21810 41654 368 7.16 X Endoplasmic reticulum;Golgi apparatus;Extracellular matrix Meester-Loeys syndrome;Spondyloepimetaphyseal dysplasia, X-linked 0 PE1 -NX_P21815 35148 317 4.14 4 Secreted NA 0 PE1 -NX_P21817 565176 5038 5.18 19 Cytoplasmic vesicle;Cytosol;Sarcoplasmic reticulum;Golgi apparatus;Sarcoplasmic reticulum membrane Central core disease of muscle;Multiminicore disease with external ophthalmoplegia;Malignant hyperthermia 1 6 PE1 -NX_P21854 40220 359 8.62 9 Mitochondrion;Nucleus;Membrane NA 1 PE1 -NX_P21860 148098 1342 6.11 12 Cytoskeleton;Cell membrane;Secreted Lethal congenital contracture syndrome 2 1 PE1 -NX_P21912 31630 280 9.03 1 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane;Cell membrane Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 4 0 PE1 -NX_P21917 48361 467 8.79 11 Cell membrane NA 7 PE1 -NX_P21918 52951 477 5.23 4 Cell membrane Benign essential blepharospasm 7 PE1 -NX_P21926 25416 228 6.8 12 Cytoplasm;Exosome;Cell membrane;Membrane NA 4 PE1 -NX_P21941 53701 496 7.85 1 Extracellular matrix NA 0 PE1 -NX_P21953 43122 392 5.89 6 Mitochondrion matrix Maple syrup urine disease 1B 0 PE1 -NX_P21964 30037 271 5.26 22 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Endoplasmic reticulum Schizophrenia 1 PE1 -NX_P21980 77329 687 5.11 20 Cytosol;Cell membrane NA 0 PE1 -NX_P22001 63842 575 5.61 1 Cell membrane NA 6 PE1 -NX_P22003 51737 454 9.07 6 Secreted NA 0 PE1 -NX_P22004 57226 513 8.39 6 Mitochondrion;Secreted NA 0 PE1 -NX_P22033 83134 750 6.48 6 Mitochondrion matrix;Mitochondrion;Cytosol Methylmalonic aciduria type mut 0 PE1 -NX_P22059 89421 807 6.91 11 Endoplasmic reticulum membrane;Golgi apparatus;Cytosol;Perinuclear region;Nucleus;trans-Golgi network;Golgi apparatus membrane NA 0 PE1 -NX_P22061 24636 227 6.7 6 Cytosol;Cytoplasm NA 0 PE1 -NX_P22079 80288 712 8.89 17 Secreted NA 0 PE1 -NX_P22083 59084 530 10.04 11 Cytoplasmic vesicle;Golgi stack membrane NA 1 PE1 -NX_P22087 33784 321 10.18 19 Nucleolus;Nucleus NA 0 PE1 -NX_P22090 29456 263 10.25 Y NA NA 0 PE1 -NX_P22102 107767 1010 6.26 21 Cytosol;Mitochondrion;Nucleoplasm NA 0 PE1 -NX_P22105 458388 4244 5.05 6 Extracellular matrix Vesicoureteral reflux 8;Ehlers-Danlos syndrome, classic-like 0 PE1 -NX_P22223 91418 829 4.61 16 Cytosol;Cell junction;Cell membrane Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome;Hypotrichosis congenital with juvenile macular dystrophy 1 PE1 -NX_P22234 47079 425 6.94 4 Cytosol NA 0 PE1 -NX_P22301 20517 178 8.19 1 Secreted NA 0 PE1 -NX_P22303 67796 614 5.87 7 Synapse;Golgi apparatus;Secreted;Cell membrane;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P22304 61873 550 5.21 X Endoplasmic reticulum;Lysosome Mucopolysaccharidosis 2 0 PE1 -NX_P22307 58994 547 6.44 1 Mitochondrion;Cytoplasm;Peroxisome Leukoencephalopathy with dystonia and motor neuropathy 0 PE1 -NX_P22309 59591 533 8.19 2 Endoplasmic reticulum membrane;Microsome;Endoplasmic reticulum Crigler-Najjar syndrome 1;Crigler-Najjar syndrome 2;Transient familial neonatal hyperbilirubinemia;Gilbert syndrome 1 PE1 -NX_P22310 60025 534 8.79 2 Endoplasmic reticulum membrane;Microsome NA 1 PE1 -NX_P22314 117849 1058 5.49 X Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus Spinal muscular atrophy X-linked 2 0 PE1 -NX_P22352 25552 226 8.26 5 Secreted NA 0 PE1 -NX_P22362 10992 96 9.3 17 Secreted NA 0 PE1 -NX_P22392 17298 152 8.52 17 Cytoplasm;Nucleus;Ruffle;Lamellipodium NA 0 PE1 -NX_P22413 104924 925 6.76 6 Basolateral cell membrane;Cell membrane;Secreted Ossification of the posterior longitudinal ligament of the spine;Hypophosphatemic rickets, autosomal recessive, 2;Diabetes mellitus, non-insulin-dependent;Arterial calcification of infancy, generalized, 1;Cole disease 1 PE1 -NX_P22415 33538 310 5.36 1 Nucleoplasm;Nucleus Hyperlipidemia combined 1 0 PE1 -NX_P22455 87954 802 6.36 5 Cytoplasm;Endosome;Endoplasmic reticulum;Cell membrane;Secreted Prostate cancer 1 PE1 -NX_P22459 73257 653 5.08 11 Axon;Cell membrane NA 6 PE1 -NX_P22460 67228 613 5.68 12 Cell membrane Atrial fibrillation, familial, 7 6 PE1 -NX_P22466 13302 123 6.84 11 Cytoplasmic vesicle;Golgi apparatus;Secreted Epilepsy, familial temporal lobe, 8 0 PE1 -NX_P22492 22019 207 11.71 6 Nucleus;Chromosome NA 0 PE1 -NX_P22528 9888 89 8.85 1 Cytoplasm NA 0 PE1 -NX_P22531 7855 72 8.73 1 Cytoplasm NA 0 PE2 -NX_P22532 7905 72 8.77 1 Cytoplasm NA 0 PE2 -NX_P22557 64633 587 8.39 X Mitochondrion matrix Erythropoietic protoporphyria, X-linked dominant;Anemia, sideroblastic, 1 0 PE1 -NX_P22570 53837 491 8.72 17 Mitochondrion;Mitochondrion inner membrane Auditory neuropathy and optic atrophy 0 PE1 -NX_P22607 87710 806 5.59 4 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane;Secreted Muenke syndrome;Testicular germ cell tumor;Lacrimo-auriculo-dento-digital syndrome;Keratosis, seborrheic;Bladder cancer;Keratinocytic non-epidermolytic nevus;Multiple myeloma;Achondroplasia;Camptodactyly, tall stature, and hearing loss syndrome;Thanatophoric dysplasia 1;Achondroplasia, severe, with developmental delay and acanthosis nigricans;Hypochondroplasia;Thanatophoric dysplasia 2;Crouzon syndrome with acanthosis nigricans;Cervical cancer 1 PE1 -NX_P22612 40434 351 8.7 9 NA Bleeding disorder, platelet-type 19 0 PE1 -NX_P22626 37430 353 8.97 7 Nucleoplasm;Cytoplasm;Nucleus;Exosome;Cytoplasmic granule Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 0 PE1 -NX_P22670 104758 979 5.89 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_P22674 38096 350 8.44 5 Cytoplasm Ciliary dyskinesia, primary, 29 0 PE1 -NX_P22676 31540 271 5.06 16 Cytosol NA 0 PE1 -NX_P22680 57661 504 8.48 8 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P22681 99633 906 6.1 11 Cytosol;Cytoplasm;Golgi apparatus;Cilium;Cell membrane Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 0 PE1 -NX_P22692 27934 258 6.81 17 Secreted NA 0 PE1 -NX_P22694 40623 351 8.84 1 Cytoplasm;Nucleus;Cell membrane;Membrane NA 0 PE1 -NX_P22695 48443 453 8.74 16 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 5 0 PE1 -NX_P22732 54974 501 5.81 1 Apical cell membrane;Sarcolemma;Cell membrane NA 12 PE1 -NX_P22735 89787 817 5.68 14 Membrane Ichthyosis, congenital, autosomal recessive 1 0 PE1 -NX_P22736 64463 598 6.82 12 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P22748 35032 312 7.68 17 Cytoplasmic vesicle;Cell membrane Retinitis pigmentosa 17 0 PE1 -NX_P22749 16374 145 9.39 2 Secreted NA 0 PE1 -NX_P22760 45734 399 8.75 3 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_P22792 60557 545 5.63 3 Secreted NA 0 PE1 -NX_P22794 26213 236 8.73 17 Nucleoplasm;Nucleus;Membrane NA 1 PE1 -NX_P22830 47862 423 8.96 18 Mitochondrion inner membrane Protoporphyria, erythropoietic, 1 0 PE1 -NX_P22888 78643 699 8.82 2 Cell membrane Familial male precocious puberty;Luteinizing hormone resistance 7 PE1 -NX_P22891 44744 400 5.64 13 Secreted NA 0 PE1 -NX_P22894 53412 467 6.38 11 Cytoplasmic granule;Extracellular matrix NA 0 PE1 -NX_P22897 166012 1456 6.11 10 Endosome membrane;Cell membrane NA 1 PE1 -NX_P22914 21007 178 6.44 3 Cytosol Cataract 20, multiple types 0 PE1 -NX_P23025 31368 273 6.29 9 Cytoskeleton;Nucleus Xeroderma pigmentosum complementation group A 0 PE1 -NX_P23083 13085 117 9.23 14 Cell membrane;Secreted NA 0 PE1 -NX_P23109 90219 780 6.53 1 NA Myopathy due to myoadenylate deaminase deficiency 0 PE1 -NX_P23141 62521 567 6.15 16 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 -NX_P23142 77214 703 5.07 22 Endoplasmic reticulum;Extracellular matrix NA 0 PE1 -NX_P23193 33970 301 8.65 8 Nucleolus;Nucleus NA 0 PE1 -NX_P23219 68686 599 6.81 9 Endoplasmic reticulum membrane;Microsome membrane;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_P23229 126606 1130 6.21 2 Cell membrane Epidermolysis bullosa letalis, with pyloric atresia 1 PE1 -NX_P23246 76149 707 9.45 1 Nucleoplasm;Cytoplasm;Nucleus matrix;Nucleus speckle NA 0 PE1 -NX_P23258 51170 451 5.75 17 Centrosome Cortical dysplasia, complex, with other brain malformations 4 0 PE1 -NX_P23276 82824 732 8.09 7 Cell membrane NA 1 PE1 -NX_P23280 35367 308 6.51 1 Secreted NA 0 PE1 -NX_P23284 23743 216 9.42 15 Nucleus;Endoplasmic reticulum lumen;Melanosome;Endoplasmic reticulum Osteogenesis imperfecta 9 0 PE1 -NX_P23297 10546 94 4.39 1 Cytoplasm NA 0 PE1 -NX_P23327 80244 699 4.62 19 Sarcoplasmic reticulum lumen NA 0 PE1 -NX_P23352 76112 680 9.33 X Cell membrane;Secreted Hypogonadotropic hypogonadism 1 with or without anosmia 0 PE1 -NX_P23368 65444 584 7.52 18 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_P23378 112730 1020 6.68 9 Mitochondrion;Nucleus Non-ketotic hyperglycinemia 0 PE1 -NX_P23381 53165 471 5.83 14 Cytosol;Cytoplasm Neuronopathy, distal hereditary motor, 9 0 PE1 -NX_P23396 26688 243 9.68 11 Nucleolus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleus;Mitochondrion inner membrane;Spindle NA 0 PE1 -NX_P23409 26953 242 5.71 12 Nucleus Myopathy, centronuclear, 3 0 PE1 -NX_P23415 52624 457 8.97 5 Dendrite;Synapse;Postsynaptic cell membrane;Perikaryon;Cell membrane Hyperekplexia 1 4 PE1 -NX_P23416 52002 452 9.06 X Cell projection;Synapse;Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_P23434 18885 173 4.91 16 Cytoplasmic vesicle;Mitochondrion Non-ketotic hyperglycinemia 0 PE1 -NX_P23435 21097 193 6.73 16 Postsynaptic cell membrane;Secreted NA 0 PE1 -NX_P23443 59140 525 6.21 17 Synaptosome;Nucleoplasm;Cytoplasm;Mitochondrion outer membrane;Nucleus;Mitochondrion NA 0 PE1 -NX_P23458 133277 1154 7.48 1 Endomembrane system NA 0 PE1 -NX_P23467 224301 1997 7.44 12 Cytoplasmic vesicle;Cell junction;Cell membrane;Membrane NA 1 PE1 -NX_P23468 214760 1912 6.14 9 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_P23469 80642 700 6.57 10 Cytoplasm;Cytoskeleton;Cell membrane NA 1 PE1 -NX_P23470 162003 1445 5.99 3 Membrane NA 1 PE1 -NX_P23471 254587 2315 4.76 7 Cytosol;Cell membrane;Secreted NA 1 PE1 -NX_P23490 25761 312 8.5 1 Nucleoplasm;Cytoplasm Vohwinkel syndrome with ichthyosis 0 PE1 -NX_P23497 100417 879 8.49 2 PML body;Nucleus;Cytoplasm NA 0 PE1 -NX_P23508 93027 829 5.4 5 Nucleoplasm;Lamellipodium;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 -NX_P23510 21050 183 6.95 1 Cytoplasmic vesicle;Nucleus;Membrane Systemic lupus erythematosus 1 PE1 -NX_P23511 36877 347 8.89 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_P23515 49608 440 8.06 17 Cell membrane NA 0 PE1 -NX_P23526 47716 432 5.92 20 Cytosol;Cytoplasm;Melanosome Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency 0 PE1 -NX_P23527 13906 126 10.31 6 Nucleus;Chromosome NA 0 PE1 -NX_P23528 18502 166 8.22 11 Lamellipodium;Cytoskeleton;Nucleus matrix;Lamellipodium membrane;Ruffle membrane NA 0 PE1 -NX_P23560 27818 247 9.01 11 Mitochondrion;Nucleus speckle;Secreted Congenital central hypoventilation syndrome 0 PE1 -NX_P23582 13246 126 10.25 2 Secreted NA 0 PE1 -NX_P23588 69151 611 5.55 12 Cytosol NA 0 PE1 -NX_P23610 39103 371 6.37 X Nucleus NA 0 PE1 -NX_P23634 137920 1241 6.19 1 Flagellum membrane;Cell membrane NA 10 PE1 -NX_P23677 51009 461 7.59 15 Cytoplasmic vesicle NA 0 PE1 -NX_P23743 82630 735 6.28 12 Nucleoplasm;Cytoplasmic vesicle;Mitochondrion NA 0 PE1 -NX_P23759 55119 505 9.1 1 Nucleus Rhabdomyosarcoma 2 0 PE1 -NX_P23760 52968 479 8.92 2 Nucleoplasm;Nucleus Waardenburg syndrome 3;Rhabdomyosarcoma 2;Craniofacial-deafness-hand syndrome;Waardenburg syndrome 1 0 PE1 -NX_P23763 12902 118 6.24 12 Synaptosome;Synaptic vesicle membrane;Cytoplasmic vesicle membrane;Mitochondrion outer membrane Spastic ataxia 1, autosomal dominant 1 PE1 -NX_P23769 50500 480 9.43 3 Nucleoplasm;Nucleus Lymphedema, primary, with myelodysplasia;Myelodysplastic syndrome;Immunodeficiency 21 0 PE1 -NX_P23771 47916 443 9.52 10 Nucleoplasm;Nucleus Hypoparathyroidism, sensorineural deafness, and renal disease 0 PE1 -NX_P23786 73777 658 8.38 1 Nucleoplasm;Mitochondrion;Nucleolus;Mitochondrion inner membrane Carnitine palmitoyltransferase 2 deficiency, infantile;Encephalopathy, acute, infection-induced, 4;Carnitine palmitoyltransferase 2 deficiency, lethal neonatal;Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced 0 PE1 -NX_P23919 23819 212 8.4 2 Mitochondrion NA 0 PE1 -NX_P23921 90070 792 6.76 11 Cytosol;Cytoplasm NA 0 PE1 -NX_P23942 39186 346 8.5 6 Membrane Macular dystrophy, patterned, 1;Choroidal dystrophy, central areolar 2;Retinitis pigmentosa 7;Macular dystrophy, vitelliform, 3;Retinitis punctata albescens 4 PE1 -NX_P23945 78265 695 6.77 2 Cell membrane Ovarian hyperstimulation syndrome;Ovarian dysgenesis 1 7 PE1 -NX_P23946 27325 247 9.44 14 Cytoplasmic granule;Secreted NA 0 PE1 -NX_P23975 69332 617 7.18 16 Mitochondrion;Cytosol;Cell membrane Orthostatic intolerance 12 PE1 -NX_P24001 26676 234 5.14 16 Secreted NA 0 PE1 -NX_P24043 343905 3122 6.01 6 Basement membrane Merosin-deficient congenital muscular dystrophy 1A 0 PE1 -NX_P24046 55883 479 8.71 6 Postsynaptic cell membrane;Cell membrane NA 4 PE2 -NX_P24071 32265 287 6.44 19 Cell membrane;Secreted NA 1 PE1 -NX_P24158 27807 256 8.72 19 Cytoplasmic granule;Membrane raft;Cell membrane;Secreted NA 0 PE1 -NX_P24278 48990 435 6.09 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_P24298 54637 496 6.77 8 Cytoplasm NA 0 PE1 -NX_P24310 9118 79 10.12 19 Mitochondrion inner membrane NA 1 PE1 -NX_P24311 9161 80 10.28 X Mitochondrion inner membrane Linear skin defects with multiple congenital anomalies 2 1 PE1 -NX_P24347 54590 488 6.38 22 Extracellular matrix NA 0 PE1 -NX_P24385 33729 295 4.97 11 Nucleoplasm;Cytoplasm;Nucleus;Membrane Multiple myeloma 0 PE1 -NX_P24386 73476 653 4.68 X Cytosol;Nucleoplasm Choroideremia 0 PE1 -NX_P24387 36144 322 6.06 5 Secreted NA 0 PE1 -NX_P24390 24542 212 8.8 19 Endoplasmic reticulum membrane;COPI-coated vesicle membrane;Cytoplasmic vesicle;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus NA 7 PE1 -NX_P24394 89658 825 4.99 16 Cell membrane;Secreted NA 1 PE1 -NX_P24462 57470 503 9.16 7 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P24468 45571 414 8.66 15 Nucleus Congenital heart defects, multiple types, 4 0 PE1 -NX_P24522 18336 165 4.36 1 Nucleus speckle;Nucleus NA 0 PE1 -NX_P24530 49644 442 9.15 13 Cytosol;Cell membrane Hirschsprung disease 2;Waardenburg syndrome 4A;ABCD syndrome 7 PE1 -NX_P24534 24764 225 4.5 2 Cytosol;Nucleolus NA 0 PE1 -NX_P24539 28909 256 9.37 1 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P24557 60518 533 7.56 7 Endoplasmic reticulum membrane;Cytoplasmic vesicle Ghosal hematodiaphyseal dysplasia 4 PE1 -NX_P24588 47088 427 4.87 14 Nucleoplasm;Membrane NA 0 PE1 -NX_P24592 25322 240 8.15 12 Secreted NA 0 PE1 -NX_P24593 30570 272 8.58 2 Cytoplasmic vesicle;Nucleus;Golgi apparatus;Secreted NA 0 PE1 -NX_P24666 18042 158 6.29 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P24723 77828 683 7.94 14 Cytosol;Cytoplasm;Cell membrane Ischemic stroke 0 PE1 -NX_P24752 45200 427 8.98 11 Mitochondrion 3-ketothiolase deficiency 0 PE1 -NX_P24821 240853 2201 4.79 9 Extracellular matrix Deafness, autosomal dominant, 56 0 PE1 -NX_P24844 19827 172 4.8 20 NA NA 0 PE1 -NX_P24855 31434 282 4.71 16 Cytoplasmic vesicle;Nucleus envelope;Endoplasmic reticulum;Secreted Systemic lupus erythematosus 0 PE1 -NX_P24863 33243 283 6.95 6 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_P24864 47077 410 5.7 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_P24903 55501 491 6.93 19 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P24928 217176 1970 7.02 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P24941 33930 298 8.8 12 Cajal body;Endosome;Cytosol;Cytoplasm;Nucleoplasm;Centrosome NA 0 PE1 -NX_P25021 40098 359 9.36 5 Cell membrane NA 7 PE2 -NX_P25024 39791 350 8.98 2 Cell membrane NA 7 PE1 -NX_P25025 40759 360 8.66 2 Cell membrane NA 7 PE1 -NX_P25054 311646 2843 7.92 5 Cytoplasm;Cell membrane;Ruffle membrane;Adherens junction;Lamellipodium;Cytoskeleton Gastric cancer;Hereditary desmoid disease;Hepatocellular carcinoma;Medulloblastoma;Familial adenomatous polyposis 0 PE1 -NX_P25063 8083 80 9.69 6 Cell membrane Multiple sclerosis 0 PE1 -NX_P25067 67244 703 9.05 1 Basement membrane;Golgi apparatus Corneal dystrophy, Fuchs endothelial, 1;Corneal dystrophy, posterior polymorphous, 2 0 PE1 -NX_P25089 39965 353 8.12 19 Cell membrane NA 7 PE1 -NX_P25090 38964 351 8.09 19 Cell membrane NA 7 PE1 -NX_P25092 123403 1073 6.77 12 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cell membrane Diarrhea 6;Meconium ileus 1 PE1 -NX_P25098 79574 689 6.89 11 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA 0 PE1 -NX_P25100 60463 572 9.41 20 Cell membrane NA 7 PE1 -NX_P25101 48722 427 8.73 4 Cell membrane Mandibulofacial dysostosis with alopecia 7 PE1 -NX_P25103 46251 407 6.78 2 Cell membrane NA 7 PE1 -NX_P25105 39203 342 9.2 1 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA 7 PE1 -NX_P25106 41493 362 7.52 2 Cytoplasmic vesicle;Perinuclear region;Recycling endosome;Cell membrane;Early endosome NA 7 PE1 -NX_P25116 47441 425 8.62 5 Cell membrane NA 7 PE1 -NX_P25189 27555 248 9.57 1 Myelin membrane;Cell membrane Charcot-Marie-Tooth disease, dominant, intermediate type, D;Neuropathy, congenital hypomyelinating or amyelinating;Adie pupil;Dejerine-Sottas syndrome;Roussy-Levy syndrome;Charcot-Marie-Tooth disease 1B;Charcot-Marie-Tooth disease 2I;Charcot-Marie-Tooth disease 2J 1 PE1 -NX_P25205 90981 808 5.53 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_P25208 22831 207 4.46 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_P25311 34259 298 5.71 7 Secreted NA 0 PE1 -NX_P25325 33178 297 6.13 22 Mitochondrion;Cytoplasm;Cytosol;Synaptosome NA 0 PE1 -NX_P25391 337084 3075 5.93 18 Basement membrane Poretti-Boltshauser syndrome 0 PE1 -NX_P25398 14515 132 6.81 6 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Cytosol;Golgi apparatus NA 0 PE1 -NX_P25440 88061 801 9.13 6 Nucleus speckle;Nucleus NA 0 PE1 -NX_P25445 37732 335 8.29 10 Cytosol;Cell membrane;Secreted Autoimmune lymphoproliferative syndrome 1A 1 PE1 -NX_P25490 44713 414 5.8 14 Nucleoplasm;Nucleus matrix;Cytoplasmic vesicle;Nucleolus;Nucleus Gabriele-de Vries syndrome 0 PE1 -NX_P25685 38044 340 8.74 19 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P25686 35580 324 5.69 2 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Nucleus membrane Distal spinal muscular atrophy, autosomal recessive, 5 0 PE1 -NX_P25705 59751 553 9.16 18 Mitochondrion;Mitochondrion inner membrane;Cell membrane Combined oxidative phosphorylation deficiency 22;Mitochondrial complex V deficiency, nuclear type 4 0 PE1 -NX_P25713 6927 68 4.79 16 NA NA 0 PE1 -NX_P25774 37496 331 8.61 1 Cytoplasmic vesicle;Lysosome NA 0 PE1 -NX_P25786 29556 263 6.15 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P25787 25899 234 6.91 7 Cytoplasm;Nucleus NA 0 PE1 -NX_P25788 28433 255 5.19 14 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_P25789 29484 261 7.58 15 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P25791 18358 158 6.79 11 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P25800 17828 156 8.33 11 Nucleus NA 0 PE1 -NX_P25815 10400 95 4.75 4 Cytoplasm;Microvillus membrane;Nucleus NA 0 PE1 -NX_P25874 33005 307 9.26 4 Mitochondrion inner membrane NA 6 PE1 -NX_P25929 44392 384 7.94 4 Mitochondrion;Cytosol;Nucleus;Cell membrane NA 7 PE1 -NX_P25940 172121 1745 6.44 19 Extracellular matrix NA 0 PE1 -NX_P25942 30619 277 5.49 20 Cell membrane;Secreted Immunodeficiency with hyper-IgM 3 1 PE1 -NX_P25963 35609 317 4.57 14 Cytosol;Cytoplasm;Nucleus Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant 0 PE1 -NX_P26006 116612 1051 6.32 17 Filopodium membrane;Invadopodium membrane;Cell membrane Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 1 PE1 -NX_P26010 86903 798 5.67 12 Cytosol;Cell membrane;Membrane NA 1 PE1 -NX_P26012 85632 769 7.06 7 Cytosol;Cell membrane NA 1 PE1 -NX_P26022 41976 381 4.94 3 Secreted NA 0 PE1 -NX_P26038 67820 577 6.08 X Microvillus;Microvillus membrane;Apical cell membrane;Cytoskeleton;Cell membrane Immunodeficiency 50 0 PE1 -NX_P26045 103990 913 6.58 9 Cytoskeleton;Cell membrane NA 0 PE1 -NX_P26196 54417 483 8.85 11 Cytosol;Cytoplasm;P-body;Nucleus NA 0 PE1 -NX_P26232 105313 953 5.52 2 Cytoplasm;Cell membrane;Axon;Nucleus;Adherens junction;Cytoskeleton NA 0 PE1 -NX_P26358 183165 1616 7.99 19 Nucleoplasm;Nucleus Neuropathy, hereditary sensory, 1E;Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 0 PE1 -NX_P26367 46683 422 9.45 11 Nucleoplasm;Nucleus Coloboma, ocular, autosomal dominant;Aniridia 2;Aniridia 1;Anterior segment dysgenesis 5;Bilateral optic nerve hypoplasia;Foveal hypoplasia 1;Coloboma of optic nerve;Keratitis hereditary 0 PE1 -NX_P26368 53501 475 9.19 19 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_P26371 16276 169 8.34 11 NA NA 0 PE1 -NX_P26373 24261 211 11.65 16 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_P26374 74071 656 4.84 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_P26378 41770 380 9.45 1 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_P26436 28156 265 4.68 11 Acrosome NA 0 PE1 -NX_P26439 42052 372 8.12 1 Endoplasmic reticulum membrane;Mitochondrion membrane Adrenal hyperplasia 2 1 PE1 -NX_P26440 46651 426 8.27 15 Mitochondrion matrix;Nucleoplasm;Mitochondrion Isovaleric acidemia 0 PE1 -NX_P26441 22931 200 6.35 11 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_P26447 11729 101 5.85 1 Cell membrane NA 0 PE1 -NX_P26572 50878 445 9.25 5 Golgi apparatus membrane NA 1 PE1 -NX_P26583 24034 209 7.62 4 Cytoplasm;Nucleolus;Nucleus;Chromosome;Secreted NA 0 PE1 -NX_P26599 57221 531 9.22 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_P26639 83435 723 6.23 5 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_P26640 140476 1264 7.53 6 Cytosol Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 PE1 -NX_P26641 50119 437 6.25 11 Mitochondrion;Cytoplasm NA 0 PE1 -NX_P26651 34003 326 8.86 19 P-body;Cytoplasm;Cytoplasmic vesicle;Cytoplasmic granule;Nucleus;Cytoskeleton NA 0 PE1 -NX_P26678 6109 52 9.5 6 Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane;Mitochondrion membrane;Membrane Cardiomyopathy, familial hypertrophic 18;Cardiomyopathy, dilated 1P 1 PE1 -NX_P26715 26314 233 8.53 12 Membrane NA 1 PE1 -NX_P26717 26072 231 8.69 12 Membrane NA 1 PE1 -NX_P26718 25274 216 8.56 12 Cell membrane NA 1 PE1 -NX_P26842 29137 260 7.8 12 Membrane Lymphoproliferative syndrome 2 1 PE1 -NX_P26885 15649 142 9.24 11 Endoplasmic reticulum membrane;Cell membrane NA 0 PE1 -NX_P26927 80320 711 7.98 3 Secreted NA 0 PE1 -NX_P26951 43330 378 8.6 X Cell membrane;Membrane NA 1 PE1 -NX_P26992 40633 372 6.26 9 Cell membrane NA 0 PE1 -NX_P26998 24252 211 6.25 22 NA Cataract 22, multiple types 0 PE1 -NX_P27037 57848 513 5.61 2 Cytosol;Membrane NA 1 PE1 -NX_P27105 31731 288 7.71 9 Melanosome;Golgi apparatus;Cytosol;Cell membrane;Cytoplasmic vesicle;Cytoskeleton;Membrane raft NA 0 PE1 -NX_P27144 25268 223 8.47 1 Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_P27169 39731 355 5.08 7 Extracellular space Microvascular complications of diabetes 5 0 PE1 -NX_P27216 35415 316 5.47 8 Cell membrane NA 0 PE1 -NX_P27338 58763 520 7.2 X Mitochondrion;Nucleolus;Mitochondrion outer membrane NA 1 PE1 -NX_P27348 27764 245 4.68 2 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_P27352 45416 417 5.8 11 Secreted Hereditary intrinsic factor deficiency 0 PE1 -NX_P27361 43136 379 6.28 16 Caveola;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_P27448 84429 753 9.59 14 Cytoplasm;Nucleus membrane;Cell membrane;Dendrite NA 0 PE1 -NX_P27449 15736 155 7.98 16 Vacuole membrane NA 4 PE1 -NX_P27469 11321 103 9.73 1 Mitochondrion NA 0 PE1 -NX_P27482 16891 149 4.3 10 NA NA 0 PE1 -NX_P27487 88279 766 5.67 2 Invadopodium membrane;Apical cell membrane;Secreted;Cell membrane;Membrane raft;Lamellipodium membrane;Cell junction NA 1 PE1 -NX_P27539 39475 372 9.51 19 Secreted Congenital heart defects, multiple types, 6;Right atrial isomerism;Tetralogy of Fallot;Conotruncal heart malformations 0 PE1 -NX_P27540 86636 789 6.11 1 Nucleus NA 0 PE1 -NX_P27544 39536 350 9.17 19 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum Epilepsy, progressive myoclonic 8 6 PE1 -NX_P27635 24604 214 10.11 X Nucleus Autism, X-linked 5;Mental retardation, X-linked, syndromic, 35 0 PE1 -NX_P27658 73364 744 9.62 3 Cytoplasmic vesicle;Basement membrane NA 0 PE1 -NX_P27694 68138 616 6.92 17 Nucleoplasm;PML body;Nucleus NA 0 PE1 -NX_P27695 35555 318 8.33 14 Nucleus speckle;Nucleolus;Cytoplasm;Endoplasmic reticulum;Nucleus;Mitochondrion NA 0 PE1 -NX_P27701 29626 267 5.14 11 Cytoplasmic vesicle;Membrane NA 4 PE1 -NX_P27707 30519 260 5.14 4 Nucleus NA 0 PE1 -NX_P27708 242984 2225 6.02 2 Nucleoplasm;Cytoplasm;Nucleus Epileptic encephalopathy, early infantile, 50 0 PE1 -NX_P27797 48142 417 4.29 19 Cytosol;Cell surface;Sarcoplasmic reticulum lumen;Endoplasmic reticulum lumen;Extracellular matrix NA 0 PE1 -NX_P27815 98143 886 5.09 19 Cytoplasm;Perinuclear region;Cell membrane;Ruffle membrane;Membrane NA 0 PE1 -NX_P27816 121005 1152 5.32 3 Cytosol;Cytoskeleton;Cell membrane NA 0 PE1 -NX_P27824 67568 592 4.47 5 Endoplasmic reticulum membrane;Melanosome;Endoplasmic reticulum NA 1 PE1 -NX_P27918 51276 469 8.32 X Secreted Properdin deficiency 0 PE1 -NX_P27930 45421 398 8.03 2 Cell membrane;Secreted NA 1 PE1 -NX_P27986 83598 724 5.84 5 Cytosol SHORT syndrome;Immunodeficiency 36;Agammaglobulinemia 7, autosomal recessive 0 PE1 -NX_P27987 102376 946 8.7 1 Nucleus NA 0 PE1 -NX_P28039 65105 575 8.45 7 Cytoplasmic vesicle;Cytoplasm;Secreted;Nucleus;Lysosome NA 0 PE1 -NX_P28062 30354 276 7.04 6 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Nucleus Proteasome-associated autoinflammatory syndrome 1 0 PE1 -NX_P28065 23264 219 4.93 6 Cytosol;Cytoplasm;Nucleus Proteasome-associated autoinflammatory syndrome 3 0 PE1 -NX_P28066 26411 241 4.74 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P28067 29194 261 4.51 6 Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane NA 1 PE1 -NX_P28068 28943 263 7.09 6 Late endosome membrane;Lysosome membrane NA 1 PE1 -NX_P28069 32912 291 8.36 3 Nucleus Pituitary hormone deficiency, combined, 1 0 PE1 -NX_P28070 29204 264 5.72 1 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Centrosome Proteasome-associated autoinflammatory syndrome 3 0 PE1 -NX_P28072 25358 239 4.8 17 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_P28074 28480 263 6.44 14 Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_P28161 25745 218 5.99 1 Cytoplasm NA 0 PE1 -NX_P28221 41907 377 9.03 1 Cell membrane NA 7 PE1 -NX_P28222 43568 390 8.96 6 Cell membrane NA 7 PE1 -NX_P28223 52603 471 7.83 13 Cytoplasmic vesicle;Axon;Caveola;Cell membrane;Dendrite NA 7 PE1 -NX_P28288 75476 659 9.41 1 Peroxisome membrane;Peroxisome Congenital bile acid synthesis defect 5 4 PE1 -NX_P28289 40569 359 5.03 9 Cytosol;Cytoskeleton NA 0 PE1 -NX_P28290 138386 1259 5.11 2 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_P28300 46944 417 8.36 5 Extracellular space;Endoplasmic reticulum;Secreted Aortic aneurysm, familial thoracic 10 0 PE1 -NX_P28324 46900 431 7.68 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_P28325 16080 142 6.71 20 Secreted NA 0 PE1 -NX_P28328 34843 305 8.98 8 Cytoplasmic vesicle;Peroxisome membrane Peroxisome biogenesis disorder complementation group 5;Peroxisome biogenesis disorder 5A;Peroxisome biogenesis disorder 5B 2 PE1 -NX_P28329 82536 748 8.9 10 NA Myasthenic syndrome, congenital, 6, presynaptic 0 PE1 -NX_P28330 47656 430 7.68 2 Mitochondrion matrix NA 0 PE1 -NX_P28331 79468 727 5.89 2 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency 0 PE1 -NX_P28332 39073 368 8.07 4 Cytoplasm NA 0 PE1 -NX_P28335 51821 458 9.13 X Cell membrane NA 7 PE1 -NX_P28336 43435 390 8.93 6 Cytosol;Cell membrane NA 7 PE1 -NX_P28340 123631 1107 6.64 19 Nucleoplasm;Nucleus Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome;Colorectal cancer 10 0 PE1 -NX_P28347 47946 426 8.33 11 Nucleoplasm;Nucleus Sveinsson chorioretinal atrophy 0 PE1 -NX_P28356 36495 352 9.36 2 Nucleolus;Nucleus NA 0 PE1 -NX_P28358 38411 340 8.62 2 Cytosol;Nucleoplasm;Nucleus Vertical talus, congenital 0 PE1 -NX_P28360 31496 303 9.89 4 Nucleoplasm;Nucleus Ectodermal dysplasia 3, Witkop type;Non-syndromic orofacial cleft 5;Tooth agenesis, selective, 1 0 PE1 -NX_P28370 122605 1054 8.27 X Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_P28472 54116 473 9.21 15 Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, early infantile, 43;Epilepsy, childhood absence 5 4 PE1 -NX_P28476 54151 465 9.27 6 Postsynaptic cell membrane;Cell membrane NA 4 PE2 -NX_P28482 41390 360 6.5 22 Caveola;Cytoplasm;Spindle;Nucleus;Centrosome NA 0 PE1 -NX_P28562 39298 367 6.78 5 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_P28566 41682 365 9.09 6 Cell membrane NA 7 PE1 -NX_P28676 24010 217 5.02 2 Cytosol;Cytoplasm;Cytoplasmic granule membrane;Cell membrane NA 0 PE1 -NX_P28698 82055 734 8.59 19 Nucleus NA 0 PE1 -NX_P28702 56922 533 8.52 6 Nucleus NA 0 PE1 -NX_P28715 133108 1186 5.13 13 Nucleoplasm;Nucleus Cerebro-oculo-facio-skeletal syndrome 3;Xeroderma pigmentosum complementation group G 0 PE1 -NX_P28749 120847 1068 7.32 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_P28799 63544 593 6.43 17 Endosome;Secreted;Endoplasmic reticulum;Lysosome Ubiquitin-positive frontotemporal dementia;Ceroid lipofuscinosis, neuronal, 11 0 PE1 -NX_P28827 163682 1452 6.21 18 Cell membrane;Membrane NA 1 PE1 -NX_P28838 56166 519 8.03 4 Cytosol;Cytoplasm;Midbody;Nucleoplasm NA 0 PE1 -NX_P28845 32401 292 8.71 1 Endoplasmic reticulum membrane Cortisone reductase deficiency 2 1 PE1 -NX_P28906 40716 385 7 1 Nucleus;Cell junction;Cell membrane;Membrane NA 1 PE1 -NX_P28907 34328 300 7.85 4 Cell membrane;Membrane NA 1 PE1 -NX_P28908 63747 595 5.44 1 Cytoplasm;Cell membrane NA 1 PE1 -NX_P29016 36939 333 5.89 1 Endosome membrane;Lysosome membrane;Cell membrane NA 1 PE1 -NX_P29017 37654 333 5.7 1 Endosome membrane;Cell membrane;Lysosome NA 1 PE1 -NX_P29033 26215 226 9.11 13 Mitochondrion;Gap junction;Cell membrane Keratoderma, palmoplantar, with deafness;Keratitis-ichthyosis-deafness syndrome;Vohwinkel syndrome;Deafness, autosomal recessive, 1A;Deafness, autosomal dominant, 3A;Bart-Pumphrey syndrome;Ichthyosis hystrix-like with deafness syndrome 4 PE1 -NX_P29034 11117 98 4.68 1 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_P29074 105911 926 7.15 2 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 -NX_P29083 49452 439 4.74 3 Cytosol;Nucleus NA 0 PE1 -NX_P29084 33044 291 9.66 8 Nucleoplasm;Cytosol;Nucleus Trichothiodystrophy 6, non-photosensitive 0 PE1 -NX_P29120 84152 753 5.66 5 Secretory vesicle Proprotein convertase 1 deficiency 0 PE1 -NX_P29122 106420 969 7.96 15 Endomembrane system;Endoplasmic reticulum;Secreted NA 0 PE1 -NX_P29144 138350 1249 5.9 13 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P29218 30189 277 5.16 8 Nucleoplasm;Cytoplasm;Mitochondrion Mental retardation, autosomal recessive 59 0 PE1 -NX_P29274 44707 412 8.34 22 Cell membrane NA 7 PE1 -NX_P29275 36333 332 8.62 17 Cytosol;Cell membrane NA 7 PE1 -NX_P29279 38091 349 8.43 6 Secreted;Extracellular matrix NA 0 PE1 -NX_P29317 108266 976 5.86 1 Nucleus speckle;Golgi apparatus;Cell membrane;Focal adhesion;Lamellipodium membrane;Ruffle membrane;Cell junction Cataract 6, multiple types 1 PE1 -NX_P29320 110131 983 6.33 3 Cytosol;Nucleoplasm;Cell membrane;Golgi apparatus;Secreted Colorectal cancer 1 PE1 -NX_P29322 111003 1005 8.42 1 Early endosome membrane;Cell projection;Cell membrane NA 1 PE1 -NX_P29323 117493 1055 6.14 1 Axon;Dendrite;Nucleus;Cell membrane Prostate cancer 1 PE1 -NX_P29350 67561 595 7.65 12 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P29353 62822 583 6.01 1 Mitochondrion;Cytoplasm;Mitochondrion matrix;Cytosol NA 0 PE1 -NX_P29371 52202 465 9.42 4 Cell membrane Hypogonadotropic hypogonadism 11 with or without anosmia 7 PE1 -NX_P29372 32869 298 9.65 16 Cytosol;Nucleoplasm;Mitochondrion nucleoid;Nucleus;Cytoplasm NA 0 PE1 -NX_P29373 15693 138 5.42 1 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P29374 142752 1257 5.02 14 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_P29375 192095 1690 6.12 12 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_P29376 91681 864 6.07 15 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_P29377 9016 79 4.69 X NA NA 0 PE1 -NX_P29400 161044 1685 7.71 X Lipid droplet;Basement membrane Alport syndrome, X-linked 0 PE1 -NX_P29401 67878 623 7.58 3 Nucleoplasm Short stature, developmental delay, and congenital heart defects 0 PE1 -NX_P29459 24874 219 6.21 3 Secreted NA 0 PE1 -NX_P29460 37169 328 5.52 5 Secreted Psoriasis 11;Immunodeficiency 29 0 PE1 -NX_P29466 45159 404 5.63 11 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P29474 133275 1203 6.94 7 Caveola;Cytoskeleton;Golgi apparatus;Cell membrane NA 0 PE1 -NX_P29475 160970 1434 7.1 12 Nucleoplasm;Dendritic spine;Cell membrane;Sarcolemma NA 0 PE1 -NX_P29508 44565 390 6.35 18 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_P29536 67030 600 9.35 1 Sarcomere;Cytosol;Cytoskeleton NA 0 PE1 -NX_P29558 44505 406 8.91 2 Cytosol;Nucleus NA 0 PE1 -NX_P29590 97551 882 5.88 15 Endoplasmic reticulum membrane;PML body;Nucleolus;Nucleoplasm;Cytoplasm;Early endosome membrane;Nucleus NA 0 PE1 -NX_P29597 133650 1187 6.71 19 Cytosol Immunodeficiency 35 0 PE1 -NX_P29622 48542 427 7.34 14 Secreted NA 0 PE1 -NX_P29692 31122 281 4.9 8 Nucleolus;Nucleus NA 0 PE1 -NX_P29728 82431 719 8.55 12 Nucleoplasm;Cytoplasm;Perinuclear region;Cytosol NA 0 PE1 -NX_P29762 15566 137 5.3 15 Cytoplasm NA 0 PE1 -NX_P29803 42933 388 8.76 4 Mitochondrion matrix NA 0 PE1 -NX_P29965 29274 261 8.53 X Cell surface;Cell membrane;Secreted Immunodeficiency with hyper-IgM, type 1 1 PE1 -NX_P29966 31555 332 4.47 6 Cytosol;Endoplasmic reticulum;Nucleus;Cell membrane;Membrane;Cytoskeleton NA 0 PE1 -NX_P29972 28526 269 6.95 7 Cell membrane NA 6 PE1 -NX_P29973 79586 690 7.85 4 Membrane Retinitis pigmentosa 49 6 PE1 -NX_P29992 42123 359 5.51 19 Cytoplasm;Cell membrane Hypocalcemia, autosomal dominant 2;Hypocalciuric hypercalcemia, familial 2 0 PE1 -NX_P30038 61719 563 8.25 1 Mitochondrion matrix Hyperprolinemia 2 0 PE1 -NX_P30039 31785 288 6.06 10 Cytoplasmic vesicle NA 0 PE1 -NX_P30040 28993 261 6.77 12 Nucleoplasm;Cytoskeleton;Endoplasmic reticulum lumen;Melanosome;Endoplasmic reticulum NA 0 PE1 -NX_P30041 25035 224 6 1 Cytosol;Cytoplasm;Cell membrane;Lysosome NA 0 PE1 -NX_P30043 22119 206 7.13 19 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_P30044 22086 214 8.93 11 Mitochondrion;Cytoplasm;Cytosol;Peroxisome matrix NA 0 PE1 -NX_P30046 12712 118 6.72 22 Mitochondrion;Cytoplasm NA 0 PE1 -NX_P30047 9698 84 6.08 15 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Nucleus membrane NA 0 PE1 -NX_P30048 27693 256 7.68 10 Mitochondrion;Cytoplasm;Early endosome NA 0 PE1 -NX_P30049 17490 168 5.38 19 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P30050 17819 165 9.48 9 Golgi apparatus NA 0 PE1 -NX_P30084 31387 290 8.34 10 Mitochondrion;Mitochondrion matrix Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 0 PE1 -NX_P30085 22222 196 5.44 1 Cytoplasm;Nucleus NA 0 PE1 -NX_P30086 21057 187 7.01 12 Cytoplasm;Cell membrane NA 0 PE1 -NX_P30101 56782 505 5.98 15 Endoplasmic reticulum lumen;Melanosome;Endoplasmic reticulum NA 0 PE1 -NX_P30153 65309 589 5 19 Cytoplasm;Dendrite;Centromere;Cytosol;Lateral cell membrane Mental retardation, autosomal dominant 36 0 PE1 -NX_P30154 66214 601 4.84 11 Cytosol;Nucleus;Centrosome;Cell membrane NA 0 PE1 -NX_P30203 71801 668 4.82 11 Cell membrane;Secreted NA 1 PE1 -NX_P30260 91867 824 6.59 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P30273 9667 86 6.54 1 Cell membrane NA 1 PE1 -NX_P30279 33067 289 5.06 12 Nucleoplasm;Cytoplasm;Nucleus;Membrane Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 0 PE1 -NX_P30281 32520 292 6.66 6 Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_P30291 71597 646 6.33 11 Nucleolus;Nucleus NA 0 PE1 -NX_P30301 28122 263 8.62 12 Gap junction;Cell membrane Cataract 15, multiple types 6 PE1 -NX_P30304 59087 524 6.49 3 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 -NX_P30305 64987 580 6 20 Cytoplasmic vesicle;Spindle;Centrosome;Spindle pole NA 0 PE1 -NX_P30307 53365 473 6.34 5 Nucleus speckle;Nucleus NA 0 PE1 -NX_P30405 22040 207 9.49 10 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_P30408 21632 202 4.88 3 Cell membrane;Membrane NA 4 PE1 -NX_P30411 44461 391 8.5 14 Cell membrane NA 7 PE1 -NX_P30414 165677 1462 10.01 3 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_P30419 56806 496 7.65 17 Cytosol;Cytoplasm;Cell membrane;Membrane NA 0 PE1 -NX_P30443 40846 365 6.09 6 Membrane NA 1 PE1 -NX_P30447 40733 365 5.91 6 Membrane NA 1 PE1 -NX_P30450 41062 365 6.08 6 Membrane NA 1 PE1 -NX_P30453 41055 365 5.89 6 Membrane NA 1 PE1 -NX_P30455 40934 365 5.96 6 Membrane NA 1 PE1 -NX_P30456 41033 365 5.96 6 Membrane NA 1 PE1 -NX_P30457 41082 365 5.89 6 Membrane NA 1 PE1 -NX_P30459 40891 365 6.02 6 Membrane NA 1 PE1 -NX_P30460 40331 362 5.46 6 Membrane NA 1 PE1 -NX_P30461 40474 362 5.77 6 Membrane NA 1 PE1 -NX_P30462 40358 362 5.56 6 Membrane NA 1 PE1 -NX_P30464 40388 362 5.9 6 Membrane Stevens-Johnson syndrome 1 PE1 -NX_P30466 40275 362 6.27 6 Membrane NA 1 PE1 -NX_P30475 40328 362 5.77 6 Membrane NA 1 PE1 -NX_P30479 40539 362 6.09 6 Membrane NA 1 PE1 -NX_P30480 40333 362 5.56 6 Membrane NA 1 PE1 -NX_P30481 40481 362 5.7 6 Membrane NA 1 PE1 -NX_P30483 40414 362 6.03 6 Membrane NA 1 PE1 -NX_P30484 40440 362 6.17 6 Membrane NA 1 PE1 -NX_P30485 40571 362 5.78 6 Membrane NA 1 PE1 -NX_P30486 40362 362 5.67 6 Membrane NA 1 PE1 -NX_P30487 40581 362 6.03 6 Membrane NA 1 PE1 -NX_P30488 40541 362 6.03 6 Membrane NA 1 PE1 -NX_P30490 40521 362 5.85 6 Membrane NA 1 PE1 -NX_P30491 40495 362 6.02 6 Membrane NA 1 PE1 -NX_P30492 40380 362 5.89 6 Membrane NA 1 PE1 -NX_P30493 40496 362 5.66 6 Membrane NA 1 PE1 -NX_P30495 40478 362 5.77 6 Membrane NA 1 PE1 -NX_P30498 40478 362 5.84 6 Membrane NA 1 PE1 -NX_P30499 40965 366 5.49 6 Membrane NA 1 PE1 -NX_P30501 41095 366 5.76 6 Membrane NA 1 PE1 -NX_P30504 40995 366 6.04 6 Membrane NA 1 PE1 -NX_P30505 40773 366 6.52 6 Membrane NA 1 PE1 -NX_P30508 40886 366 5.91 6 Membrane NA 1 PE1 -NX_P30510 40838 366 5.79 6 Membrane NA 1 PE1 -NX_P30511 39062 346 5.37 6 Membrane NA 1 PE1 -NX_P30512 40863 365 6.52 6 Membrane NA 1 PE1 -NX_P30518 40279 371 9.49 X Cell membrane Nephrogenic syndrome of inappropriate antidiuresis;Diabetes insipidus, nephrogenic, X-linked 7 PE1 -NX_P30519 36033 316 5.31 16 Cytoplasmic vesicle;Cytosol;Microsome;Endoplasmic reticulum NA 0 PE1 -NX_P30520 50097 456 6.13 1 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_P30530 98337 894 5.23 19 Cell membrane NA 1 PE1 -NX_P30531 67074 599 8.39 3 Mitochondrion;Cell membrane;Membrane Myoclonic-atonic epilepsy 12 PE1 -NX_P30532 53054 468 6.52 15 Focal adhesion;Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_P30533 41466 357 8.73 4 Endosome lumen;cis-Golgi network;Endoplasmic reticulum;Golgi apparatus lumen;Cell surface;Rough endoplasmic reticulum lumen;Endoplasmic reticulum-Golgi intermediate compartment lumen Myopia 23, autosomal recessive 0 PE1 -NX_P30536 18828 169 9.43 22 Cytoplasmic vesicle;Cytosol;Mitochondrion;Mitochondrion membrane NA 5 PE1 -NX_P30542 36512 326 8.9 1 Cell membrane NA 7 PE1 -NX_P30550 43199 384 8.78 X Cell membrane NA 7 PE1 -NX_P30556 41061 359 9.44 3 Cytoplasmic vesicle;Cell membrane Renal tubular dysgenesis 7 PE1 -NX_P30559 42772 389 9.63 3 Cell membrane NA 7 PE1 -NX_P30566 54889 484 6.68 22 Cytosol Adenylosuccinase deficiency 0 PE1 -NX_P30613 61830 574 7.65 1 Golgi apparatus;Endoplasmic reticulum Pyruvate kinase hyperactivity;Pyruvate kinase deficiency of red cells 0 PE1 -NX_P30622 162246 1438 5.29 12 Cytosol;Cytoplasm;Cytoskeleton;Ruffle;Cytoplasmic vesicle membrane NA 0 PE1 -NX_P30626 21676 198 5.32 7 Nucleoplasm;Cytoplasm;Cytosol;Sarcoplasmic reticulum membrane NA 0 PE1 -NX_P30679 43568 374 8.74 19 NA NA 0 PE1 -NX_P30685 40455 362 6.02 6 Membrane NA 1 PE1 -NX_P30711 27335 240 7.01 22 Cytoplasm NA 0 PE1 -NX_P30740 42742 379 5.9 6 Cytosol;Cytoplasm;Cytoplasmic granule NA 0 PE1 -NX_P30793 27903 250 8.73 14 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Nucleus membrane Dystonia, dopa-responsive;Hyperphenylalaninemia, BH4-deficient, B 0 PE1 -NX_P30825 67638 629 5.29 13 Cell membrane NA 14 PE1 -NX_P30837 57206 517 6.36 9 Nucleoplasm;Cytoplasmic vesicle;Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_P30838 50395 453 6.11 17 Cytosol;Cytoplasm;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_P30872 42686 391 8.68 14 Cell membrane NA 7 PE1 -NX_P30874 41333 369 9.15 17 Cytosol;Cytoplasm;Cell membrane NA 7 PE1 -NX_P30876 133897 1174 6.44 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_P30926 56380 498 8.64 15 Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_P30939 41709 366 9.09 3 Cell membrane NA 7 PE2 -NX_P30953 35264 314 7.98 17 Cell membrane NA 7 PE3 -NX_P30954 35925 320 9.29 1 Cell membrane NA 7 PE2 -NX_P30968 37731 328 9.56 4 Cell membrane Hypogonadotropic hypogonadism 7 with or without anosmia 7 PE1 -NX_P30988 59352 508 8.98 7 Cell membrane NA 7 PE1 -NX_P30989 46259 418 9.46 20 Membrane raft;Cell membrane NA 7 PE1 -NX_P30990 19795 170 6.59 12 Secretory vesicle;Secreted NA 0 PE1 -NX_P31025 19250 176 5.39 9 Secreted NA 0 PE1 -NX_P31040 72692 664 7.06 5 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex II deficiency;Cardiomyopathy, dilated 1GG;Leigh syndrome;Paragangliomas 5 0 PE1 -NX_P31146 51026 461 6.25 16 Cytosol;Phagosome membrane;Cytoskeleton;Cell cortex Immunodeficiency 8 0 PE1 -NX_P31150 50583 447 5 X Cytoplasmic vesicle;Cytoplasm;trans-Golgi network Mental retardation, X-linked 41 0 PE1 -NX_P31151 11471 101 6.27 1 Cytoplasm;Secreted NA 0 PE1 -NX_P31152 65922 587 5.25 18 Cytoplasm;Nucleus NA 0 PE1 -NX_P31153 43661 395 6.02 2 Cytosol;Nucleoplasm NA 0 PE1 -NX_P31213 28393 254 9.47 2 Endoplasmic reticulum membrane;Microsome membrane Pseudovaginal perineoscrotal hypospadias 4 PE1 -NX_P31249 45730 432 8.98 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_P31260 42414 410 8.63 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_P31267 26339 233 9.18 7 Nucleus NA 0 PE2 -NX_P31268 25355 230 5.26 7 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_P31269 30172 272 8.8 7 Nucleus NA 0 PE1 -NX_P31270 34486 313 8.91 7 Nucleoplasm;Nucleus Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 0 PE1 -NX_P31271 39727 388 9.24 7 Nucleus Hand-foot-genital syndrome;Guttmacher syndrome 0 PE1 -NX_P31273 27755 242 6.56 12 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_P31274 29248 260 9.14 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_P31275 30171 282 8.93 12 Nucleus NA 0 PE1 -NX_P31276 35379 330 9.11 12 Nucleus Ectodermal dysplasia 9, hair/nail type 0 PE1 -NX_P31277 35197 338 9.02 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_P31314 34365 330 9.53 10 Nucleus NA 0 PE1 -NX_P31321 43073 381 5.53 7 Cell membrane NA 0 PE1 -NX_P31323 46302 418 4.82 7 Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Mitochondrion;Centrosome NA 0 PE1 -NX_P31327 164939 1500 6.3 2 Mitochondrion;Nucleolus Pulmonary hypertension, neonatal;Carbamoyl phosphate synthetase 1 deficiency 0 PE1 -NX_P31350 44878 389 5.28 2 Cytosol;Cytoplasm NA 0 PE1 -NX_P31358 6614 61 8 1 Cell membrane NA 0 PE1 -NX_P31371 23441 208 7.06 13 Secreted Multiple synostoses syndrome 3 0 PE1 -NX_P31391 42003 388 9.09 20 Cell membrane NA 7 PE2 -NX_P31415 45160 396 4.03 1 Sarcoplasmic reticulum membrane;Nucleoplasm;Sarcoplasmic reticulum lumen;Endoplasmic reticulum;Mitochondrion matrix;Sarcoplasmic reticulum;Mitochondrion Myopathy, vacuolar, with CASQ1 aggregates;Myopathy, tubular aggregate, 1 0 PE1 -NX_P31431 21642 198 4.39 20 Membrane;Golgi apparatus;Cell membrane;Secreted NA 1 PE1 -NX_P31483 42963 386 7.62 2 Nucleoplasm;Stress granule;Nucleus;Cytosol Welander distal myopathy 0 PE1 -NX_P31512 63343 558 8.74 1 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_P31513 60033 532 7.9 1 Endoplasmic reticulum membrane;Microsome membrane Trimethylaminuria 1 PE1 -NX_P31629 269053 2446 6.5 6 Nucleoplasm;Nucleus Mental retardation, autosomal dominant 43 0 PE1 -NX_P31639 72897 672 7.45 16 Membrane Renal glucosuria 11 PE1 -NX_P31641 69830 620 7.37 3 Cytosol;Cell junction;Cell membrane NA 12 PE1 -NX_P31644 52146 462 9.22 15 Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_P31645 70325 630 5.89 17 Endosome membrane;Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Endomembrane system NA 12 PE1 -NX_P31689 44868 397 6.65 9 Cytosol;Cytoplasm;Microsome;Cell membrane;Perinuclear region;Nucleus;Membrane;Mitochondrion;Cytoskeleton NA 0 PE1 -NX_P31749 55686 480 5.75 14 Cytoplasm;Cytoskeleton;Nucleus;Cell membrane Proteus syndrome;Breast cancer;Cowden syndrome 6;Colorectal cancer 0 PE1 -NX_P31751 55769 481 5.98 19 Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Early endosome Diabetes mellitus, non-insulin-dependent;Hypoinsulinemic hypoglycemia with hemihypertrophy 0 PE1 -NX_P31785 42287 369 5.9 X Cytoplasmic vesicle;Membrane Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative;X-linked combined immunodeficiency 1 PE1 -NX_P31930 52646 480 5.94 3 Mitochondrion;Cytosol;Mitochondrion inner membrane NA 0 PE1 -NX_P31937 35329 336 8.38 7 Mitochondrion NA 0 PE1 -NX_P31939 64616 592 6.27 2 Cytosol;Cell membrane AICAR transformylase/IMP cyclohydrolase deficiency 0 PE1 -NX_P31941 23012 199 6.34 22 Cytoplasm;Nucleus NA 0 PE1 -NX_P31942 36926 346 6.37 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_P31943 49229 449 5.89 5 Nucleoplasm NA 0 PE1 -NX_P31944 27680 242 5.44 19 Mitochondrion;Cytoplasm;Nucleus;Cytosol Ichthyosis, congenital, autosomal recessive 12 0 PE1 -NX_P31946 28082 246 4.76 20 Cytosol;Cytoplasm;Melanosome NA 0 PE1 -NX_P31947 27774 248 4.68 1 Cytosol;Cytoplasm;Nucleus;Secreted NA 0 PE1 -NX_P31948 62639 543 6.4 11 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Cell membrane NA 0 PE1 -NX_P31949 11740 105 6.56 1 Cytoplasm;Nucleus NA 0 PE1 -NX_P31994 34044 310 5.74 1 Cell membrane Systemic lupus erythematosus 1 PE1 -NX_P31995 35578 323 6.4 1 Cytoplasm;Cell membrane NA 1 PE1 -NX_P31997 38154 349 6.95 19 Cell surface;Cell membrane NA 0 PE1 -NX_P32004 140003 1257 5.84 X Axon;Dendrite;Growth cone;Cell membrane;Nucleoplasm Agenesis of the corpus callosum, X-linked, partial;Hydrocephalus due to stenosis of the aqueduct of Sylvius;Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome 1 PE1 -NX_P32019 112852 993 5.37 1 Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus;Cytosol;Early endosome membrane;Membrane;Phagosome membrane NA 0 PE1 -NX_P32119 21892 198 5.66 19 Cytoplasm NA 0 PE1 -NX_P32121 46106 409 7.59 17 Cytoplasmic vesicle;Nucleus;Clathrin-coated pit;Cell membrane;Cytoplasm NA 0 PE1 -NX_P32189 61245 559 6.12 X Cytoplasm;Mitochondrion outer membrane Glycerol kinase deficiency 0 PE1 -NX_P32238 47841 428 9.37 4 Cell membrane NA 7 PE1 -NX_P32239 48419 447 10.03 11 Cell membrane NA 7 PE1 -NX_P32241 51547 457 8.52 3 Cell membrane NA 7 PE1 -NX_P32242 37327 354 9.41 2 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_P32243 31636 289 9.4 14 Nucleus Retinal dystrophy, early-onset, with or without pituitary dysfunction;Pituitary hormone deficiency, combined, 6;Microphthalmia, syndromic, 5 0 PE1 -NX_P32245 36943 332 7.88 18 Cell membrane Obesity 7 PE1 -NX_P32246 41173 355 8.38 3 Cell membrane NA 7 PE1 -NX_P32247 44411 399 8.99 X Cell membrane NA 7 PE1 -NX_P32248 42874 378 8.82 17 Mitochondrion;Cell membrane NA 7 PE1 -NX_P32249 41224 361 9.31 13 Cytoplasmic vesicle;Nucleus membrane;Cell membrane NA 7 PE1 -NX_P32297 57480 505 6.05 15 Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_P32298 66583 578 7.93 4 Cytoplasmic vesicle;Cytoplasm;Cell cortex NA 0 PE1 -NX_P32302 41955 372 8.52 11 Cell membrane NA 7 PE1 -NX_P32314 47161 431 5.98 2 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P32320 16185 146 6.55 1 Nucleoplasm NA 0 PE1 -NX_P32321 20016 178 7.5 4 Nucleoplasm;Cytosol NA 0 PE1 -NX_P32322 33361 319 7.18 17 Mitochondrion Cutis laxa, autosomal recessive, 2B;Cutis laxa, autosomal recessive, 3B 0 PE1 -NX_P32418 108547 973 4.91 2 Nucleoplasm;Cell membrane NA 10 PE1 -NX_P32455 67931 592 5.97 1 Cytoplasm;Golgi apparatus membrane;Cell membrane;Secreted NA 0 PE1 -NX_P32456 67209 591 5.54 1 Cytosol;Cytoplasm;Nucleoplasm;Perinuclear region;Golgi apparatus membrane;Membrane;Cytoskeleton NA 0 PE1 -NX_P32519 67498 619 5.09 13 Nucleoplasm;Nucleus NA 0 PE1 -NX_P32745 45847 418 8.91 22 Cell membrane NA 7 PE1 -NX_P32754 44934 393 6.52 12 Nucleus speckle Hawkinsinuria;Tyrosinemia 3 0 PE1 -NX_P32780 62032 548 8.8 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_P32856 33341 288 5.92 12 Cytosol;Nucleus;Membrane NA 1 PE1 -NX_P32881 21989 189 5.32 9 Secreted NA 0 PE1 -NX_P32926 107533 999 4.86 18 Desmosome;Cell membrane NA 1 PE1 -NX_P32927 97336 897 5.33 22 Golgi apparatus;Membrane Pulmonary surfactant metabolism dysfunction 5 1 PE1 -NX_P32929 44508 405 6.21 1 Cytoplasm Cystathioninuria 0 PE1 -NX_P32942 59541 547 5.31 19 Mitochondrion;Nucleus;Nucleus membrane;Membrane NA 1 PE1 -NX_P32969 21863 192 9.96 X Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_P32970 21118 193 8.93 19 Nucleoplasm;Membrane NA 1 PE1 -NX_P32971 26017 234 7.62 9 Membrane NA 1 PE1 -NX_P33032 36601 325 8.75 18 Cell membrane NA 7 PE1 -NX_P33076 123514 1130 5.3 16 Nucleoplasm;PML body;Nucleus Bare lymphocyte syndrome 2 0 PE1 -NX_P33121 77943 698 6.81 4 Endoplasmic reticulum membrane;Microsome membrane;Peroxisome membrane;Mitochondrion outer membrane;Nucleus;Mitochondrion NA 1 PE1 -NX_P33151 87528 784 5.22 16 Cell junction;Cell membrane NA 1 PE1 -NX_P33176 109685 963 6.12 10 Cytosol;Cytoskeleton;Microtubule organizing center NA 0 PE1 -NX_P33240 60959 577 6.36 X Nucleoplasm;Nucleus NA 0 PE1 -NX_P33241 37192 339 4.69 11 Cell membrane NA 0 PE1 -NX_P33260 55711 490 6.83 10 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P33261 55931 490 7.11 10 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P33316 26563 252 9.46 15 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_P33402 81750 732 7.77 11 Cytoplasm NA 0 PE1 -NX_P33527 171591 1531 6.71 16 Cell membrane NA 17 PE1 -NX_P33552 9860 79 8.07 9 Cytoplasm NA 0 PE1 -NX_P33681 33048 288 7.58 3 Membrane NA 1 PE1 -NX_P33763 10744 92 5.01 1 Nucleoplasm NA 0 PE1 -NX_P33764 11713 101 4.71 1 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 -NX_P33778 13950 126 10.31 6 Nucleus;Chromosome NA 0 PE1 -NX_P33897 82937 745 9.09 X Endoplasmic reticulum membrane;Lysosome membrane;Peroxisome membrane;Mitochondrion membrane Adrenoleukodystrophy 5 PE1 -NX_P33908 72969 653 6.04 6 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_P33947 24422 212 8.86 7 Endoplasmic reticulum membrane NA 7 PE1 -NX_P33981 97072 857 8.41 6 Cytosol;Nucleolus NA 0 PE1 -NX_P33991 96558 863 6.28 8 Nucleoplasm;Nucleus Immunodeficiency 54 0 PE1 -NX_P33992 82286 734 8.64 22 Nucleoplasm;Cytosol;Nucleus Meier-Gorlin syndrome 8 0 PE1 -NX_P33993 81308 719 6.08 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_P34059 58026 522 6.25 16 Cytosol;Lysosome Mucopolysaccharidosis 4A 0 PE1 -NX_P34096 16840 147 9.3 14 Secreted NA 0 PE1 -NX_P34130 22427 210 9.01 19 Golgi apparatus;Secreted Glaucoma 1, open angle, O 0 PE1 -NX_P34741 22160 201 4.75 8 Cytosol;Cell membrane;Membrane NA 1 PE1 -NX_P34810 37408 354 9.1 17 Cytoplasmic vesicle;Endosome membrane;Lysosome membrane;Cell membrane;Golgi apparatus NA 1 PE1 -NX_P34820 44768 402 8.76 1 Secreted NA 0 PE1 -NX_P34896 53083 483 7.61 17 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P34897 55993 504 8.76 12 Mitochondrion nucleoid;Cytoplasm;Nucleus;Mitochondrion;Mitochondrion inner membrane;Cytoskeleton NA 0 PE1 -NX_P34903 55165 492 8.81 X Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_P34910 48666 448 4.67 17 Membrane NA 1 PE1 -NX_P34913 62616 555 5.91 8 Cytosol;Cytoplasm;Peroxisome NA 0 PE1 -NX_P34925 67815 607 6.92 3 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Membrane NA 1 PE1 -NX_P34931 70375 641 5.76 6 NA NA 0 PE1 -NX_P34932 94331 840 5.11 5 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_P34947 67787 590 8.39 10 Cytoplasm;Nucleus;Cell membrane;Nucleus membrane;Nucleus speckle NA 0 PE1 -NX_P34949 46656 423 5.62 15 Cytosol;Cytoplasm;Cell membrane Congenital disorder of glycosylation 1B 0 PE1 -NX_P34969 53555 479 9.09 10 Cytosol;Nucleus speckle;Cell membrane NA 7 PE1 -NX_P34972 39681 360 8.52 1 Dendrite;Perikaryon;Cell membrane NA 7 PE1 -NX_P34981 45085 398 8.62 8 Cell membrane NA 7 PE1 -NX_P34982 35240 312 9.07 17 Cell membrane NA 7 PE1 -NX_P34995 41801 402 11.72 19 Cell membrane NA 7 PE2 -NX_P34998 50719 444 9.47 17 Endosome;Cell membrane NA 7 PE1 -NX_P35030 32529 304 7.46 9 Secreted NA 0 PE1 -NX_P35052 61680 558 7.07 2 Cytosol;Extracellular space;Endosome;Cell membrane NA 0 PE1 -NX_P35070 19746 178 8.53 4 Extracellular space;Cell membrane NA 1 PE1 -NX_P35080 15046 140 6.55 3 Cytoskeleton NA 0 PE1 -NX_P35125 158658 1406 7.87 17 Cytoplasm;Endosome;Cell membrane NA 0 PE1 -NX_P35212 37414 333 7.5 1 Gap junction;Cell membrane NA 4 PE1 -NX_P35218 34750 305 7.18 16 Mitochondrion Hyperammonemia due to carbonic anhydrase VA deficiency 0 PE1 -NX_P35219 32973 290 4.78 8 NA Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 0 PE1 -NX_P35221 100071 906 5.95 5 Adherens junction;Cytoskeleton;Cell junction;Cell membrane Macular dystrophy, patterned, 2 0 PE1 -NX_P35222 85497 781 5.53 3 Synapse;Cytoplasm;Cell junction;Cell membrane;Centrosome;Nucleus;Adherens junction;Cytoskeleton;Spindle pole;Cilium basal body Colorectal cancer;Ovarian cancer;Mesothelioma, malignant;Vitreoretinopathy, exudative 7;Pilomatrixoma;Mental retardation, autosomal dominant 19;Medulloblastoma 0 PE1 -NX_P35225 15816 146 8.69 5 Cytosol;Cell membrane;Secreted Allergic rhinitis 0 PE1 -NX_P35226 36949 326 8.9 10 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P35227 37788 344 8.21 17 Nucleus NA 0 PE1 -NX_P35228 131117 1153 8.2 17 Cytosol NA 0 PE1 -NX_P35232 29804 272 5.57 17 Mitochondrion;Cytoplasmic vesicle;Mitochondrion inner membrane NA 0 PE1 -NX_P35236 40529 360 6.33 1 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_P35237 42622 376 5.18 6 Cytoplasm;Centrosome Deafness, autosomal recessive, 91 0 PE1 -NX_P35240 69690 595 6.11 22 Cytosol;Cell membrane;Cytoplasmic granule;Perinuclear region;Nucleus;Ruffle membrane;Filopodium membrane;Cytoskeleton Schwannomatosis 1;Neurofibromatosis 2;Mesothelioma, malignant 0 PE1 -NX_P35241 68564 583 6.03 11 Microvillus;Cytoplasm;Cytoskeleton;Cell membrane;Cleavage furrow Deafness, autosomal recessive, 24 0 PE1 -NX_P35243 23130 200 5.06 17 NA NA 0 PE1 -NX_P35244 13569 121 4.96 7 Nucleus NA 0 PE1 -NX_P35247 37728 375 6.25 10 Surface film;Extracellular matrix NA 0 PE1 -NX_P35249 39682 363 8.26 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_P35250 39157 354 6.04 7 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_P35251 128255 1148 9.38 4 Nucleolus;Nucleus NA 0 PE1 -NX_P35268 14787 128 9.21 1 Cytoplasm;Nucleolus NA 0 PE1 -NX_P35269 58240 517 7.04 19 Nucleus;Cell junction NA 0 PE1 -NX_P35270 28048 261 8.25 2 Cytosol;Cytoplasm;Nucleoplasm Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency 0 PE1 -NX_P35318 20420 185 10.84 11 Secreted NA 0 PE1 -NX_P35321 9877 89 8.85 1 Cytoplasm NA 0 PE1 -NX_P35325 7975 72 8.81 1 Cytoplasm NA 0 PE2 -NX_P35326 7965 72 8.81 1 Cytoplasm NA 0 PE1 -NX_P35346 39202 364 9.58 16 Cell membrane NA 7 PE1 -NX_P35348 51487 466 9.26 8 Caveola;Cytoplasm;Cell membrane;Nucleus membrane NA 7 PE1 -NX_P35354 68996 604 7.02 1 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum NA 0 PE1 -NX_P35367 55784 487 9.33 3 Cytosol;Cell membrane NA 7 PE1 -NX_P35368 56836 520 9.53 5 Caveola;Cytoplasm;Nucleus membrane;Cell membrane NA 7 PE1 -NX_P35372 44779 400 8.62 6 Endosome;Perikaryon;Cytoplasm;Cell membrane;Axon;Dendrite NA 7 PE1 -NX_P35398 58975 523 6.3 15 Nucleus Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 PE1 -NX_P35408 53119 488 9.08 5 Cell membrane NA 7 PE1 -NX_P35410 42411 378 8.71 6 Nucleoplasm;Cytosol;Cell membrane NA 7 PE2 -NX_P35414 42660 380 7.46 11 Cell membrane NA 7 PE1 -NX_P35442 129991 1172 4.62 6 Cytosol;Nucleus speckle;Cell membrane Intervertebral disc disease 0 PE1 -NX_P35443 105869 961 4.44 5 Extracellular space;Secreted;Extracellular matrix;Endoplasmic reticulum;Cytoplasmic vesicle;Sarcoplasmic reticulum NA 0 PE1 -NX_P35452 29031 270 9.82 2 Nucleus NA 0 PE1 -NX_P35453 36101 343 9.5 2 Nucleus Syndactyly 5;Brachydactyly D;Brachydactyly-syndactyly-oligodactyly syndrome;Brachydactyly E1;Brachydactyly-syndactyly syndrome;Synpolydactyly 1;VACTERL association 0 PE1 -NX_P35462 44225 400 9.2 3 Cell membrane Tremor, hereditary essential 1;Schizophrenia 7 PE1 -NX_P35475 72670 653 9.25 4 Cytoplasmic vesicle;Lysosome Mucopolysaccharidosis 1S;Mucopolysaccharidosis 1H;Mucopolysaccharidosis 1H/S 0 PE1 -NX_P35498 228972 2009 5.6 2 Nucleoplasm;Nucleus;Cell membrane Generalized epilepsy with febrile seizures plus 2;Epileptic encephalopathy, early infantile, 6;Intractable childhood epilepsy with generalized tonic-clonic seizures;Febrile seizures, familial, 3A;Migraine, familial hemiplegic, 3 24 PE1 -NX_P35499 208061 1836 4.99 17 Nucleoplasm;Cell membrane;Microtubule organizing center Paramyotonia congenita of von Eulenburg;Myotonia SCN4A-related;Periodic paralysis hypokalemic 2;Periodic paralysis hyperkalemic;Myasthenic syndrome, congenital, 16;Periodic paralysis normokalemic 24 PE1 -NX_P35503 60338 534 8.41 2 Endoplasmic reticulum membrane;Microsome NA 1 PE1 -NX_P35504 60071 534 8.24 2 Endoplasmic reticulum membrane;Microsome NA 1 PE2 -NX_P35520 60587 551 6.2 21 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus Cystathionine beta-synthase deficiency 0 PE1 -NX_P35523 108626 988 5.68 7 Cell membrane Myotonia congenita, autosomal recessive;Myotonia congenita, autosomal dominant 10 PE1 -NX_P35527 62064 623 5.14 17 NA Keratoderma, palmoplantar, epidermolytic 0 PE1 -NX_P35542 14747 130 9.17 11 Secreted NA 0 PE1 -NX_P35544 7760 74 4.31 11 NA NA 0 PE1 -NX_P35548 28897 267 9.68 5 Nucleus speckle;Nucleus Parietal foramina 1;Craniosynostosis 2;Parietal foramina with cleidocranial dysplasia 0 PE1 -NX_P35555 312237 2871 4.81 15 Cytosol;Extracellular matrix;Secreted Acromicric dysplasia;Marfan syndrome;Ectopia lentis 1, isolated, autosomal dominant;Geleophysic dysplasia 2;Marfan lipodystrophy syndrome;Overlap connective tissue disease;Stiff skin syndrome;Weill-Marchesani syndrome 2 0 PE1 -NX_P35556 314775 2912 4.73 5 Cytosol;Nucleoplasm;Extracellular matrix Macular degeneration, early-onset;Arthrogryposis, distal, 9 0 PE1 -NX_P35557 52191 465 5.1 7 Cytosol;Cytoplasm;Nucleus;Golgi apparatus Familial hyperinsulinemic hypoglycemia 3;Diabetes mellitus, permanent neonatal;Maturity-onset diabetes of the young 2;Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_P35558 69195 622 5.8 20 Cytoplasm Phosphoenolpyruvate carboxykinase deficiency, cytosolic 0 PE1 -NX_P35568 131591 1242 8.83 2 Nucleoplasm;Cytosol;Cell membrane Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_P35573 174764 1532 6.31 1 Nucleoplasm;Cytoplasm;Cytosol Glycogen storage disease 3 0 PE1 -NX_P35575 40484 357 8.72 17 Endoplasmic reticulum membrane Glycogen storage disease 1A 9 PE1 -NX_P35579 226532 1960 5.5 22 Cytosol;Cytoskeleton;Cell cortex;Cell membrane Deafness, autosomal dominant, 17;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 PE1 -NX_P35580 228999 1976 5.44 17 Mitochondrion;Lamellipodium;Cytoskeleton;Cytosol NA 0 PE1 -NX_P35590 125090 1138 6.63 1 Cell membrane NA 1 PE1 -NX_P35606 102487 906 5.15 3 Cytosol;Cytoplasm;Golgi apparatus membrane;COPI-coated vesicle membrane;Golgi apparatus Microcephaly 19, primary, autosomal recessive 0 PE1 -NX_P35609 103854 894 5.31 1 Z line Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction;Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction 0 PE1 -NX_P35610 64735 550 9.08 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 5 PE1 -NX_P35611 80955 737 5.6 4 Nucleoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_P35612 80854 726 5.67 2 Cytosol;Nucleoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_P35613 42200 385 5.39 19 Cytoplasmic vesicle;Melanosome;Cell membrane NA 1 PE1 -NX_P35625 24145 211 9 22 Extracellular matrix Sorsby fundus dystrophy 0 PE1 -NX_P35626 79710 688 7.55 22 Nucleus;Cell membrane NA 0 PE1 -NX_P35637 53426 526 9.4 16 Nucleoplasm;Nucleus Angiomatoid fibrous histiocytoma;Tremor, hereditary essential 4;Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia 0 PE1 -NX_P35638 19175 169 4.61 12 Nucleoplasm;Cytoplasm;Nucleus Myxoid liposarcoma 0 PE1 -NX_P35658 213620 2090 7.15 9 Cytoplasmic vesicle;Focal adhesion;Nucleus;Nuclear pore complex NA 0 PE1 -NX_P35659 42674 375 8.69 6 Nucleus NA 0 PE1 -NX_P35663 74242 651 9.68 X Calyx NA 0 PE1 -NX_P35670 157263 1465 6.25 13 Late endosome;trans-Golgi network membrane;Golgi apparatus;Cytoplasm;Golgi apparatus membrane;Mitochondrion Wilson disease 8 PE1 -NX_P35680 61324 557 7.39 17 Nucleoplasm;Nucleus Prostate cancer, hereditary, 11;Diabetes mellitus, non-insulin-dependent;Renal cysts and diabetes syndrome 0 PE1 -NX_P35711 84026 763 6.15 12 Nucleoplasm;Nucleus Lamb-Shaffer syndrome 0 PE1 -NX_P35712 91921 828 7.65 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_P35713 40891 384 8.16 20 Nucleus Hypotrichosis-lymphedema-telangiectasia syndrome;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 0 PE1 -NX_P35716 46679 441 4.91 2 Nucleus Mental retardation, autosomal dominant 27 0 PE1 -NX_P35749 227339 1972 5.42 16 Cytosol;Melanosome;Cell membrane Aortic aneurysm, familial thoracic 4 0 PE1 -NX_P35754 11776 106 8.33 5 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_P35789 70971 620 9.4 19 Nucleus NA 0 PE1 -NX_P35790 52249 457 6.16 11 Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_P35813 42448 382 5.19 14 Cytosol;Nucleus;Cell membrane;Membrane NA 0 PE1 -NX_P35858 66035 605 6.33 16 Nucleoplasm;Extracellular space Acid-labile subunit deficiency 0 PE1 -NX_P35869 96147 848 5.94 7 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_P35900 48487 424 5.52 17 Cytosol;Cytoplasm NA 0 PE1 -NX_P35908 65433 639 8.07 12 Cytosol;Cytoskeleton;Golgi apparatus Ichthyosis bullosa of Siemens 0 PE1 -NX_P35913 98336 854 5.11 4 Cytosol;Membrane Retinitis pigmentosa 40;Night blindness, congenital stationary, autosomal dominant 2 0 PE1 -NX_P35914 34360 325 8.81 1 Mitochondrion matrix;Peroxisome 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 0 PE1 -NX_P35916 152757 1363 5.9 5 Nucleus speckle;Secreted;Cytoplasm;Cell membrane;Nucleus;Cell junction Lymphedema, hereditary, 1A;Hemangioma, capillary infantile 1 PE1 -NX_P35968 151527 1356 5.6 4 Secreted;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Endoplasmic reticulum;Early endosome;Cell junction Hemangioma, capillary infantile 1 PE1 -NX_P35998 48634 433 5.71 7 Cytosol;Cytoplasm NA 0 PE1 -NX_P36021 59511 539 5.43 X Cell membrane Monocarboxylate transporter 8 deficiency 12 PE1 -NX_P36222 42625 383 8.69 1 Extracellular space;Perinuclear region;Endoplasmic reticulum;Cytoplasm Schizophrenia;Asthma-related traits 7 0 PE1 -NX_P36268 61771 569 7.22 22 Perinuclear region;Endoplasmic reticulum NA 0 PE1 -NX_P36269 62261 586 7.24 22 Nucleolus;Membrane NA 1 PE1 -NX_P36382 40380 358 8.81 1 Gap junction;Cell membrane Atrial standstill 1;Atrial fibrillation, familial, 11 4 PE1 -NX_P36383 45470 396 6.9 17 Cytosol;Nucleolus;Gap junction;Cell junction;Cell membrane NA 4 PE1 -NX_P36402 41642 384 6.32 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_P36404 20878 184 5.95 11 Nucleolus;Golgi apparatus;Cytosol;Cytoplasm;Focal adhesion;Nucleus;Mitochondrion intermembrane space;Centrosome NA 0 PE1 -NX_P36405 20456 182 6.74 10 Cytoplasm;Cell membrane;Cilium;Nucleus;Golgi apparatus membrane;Spindle;Centrosome NA 0 PE1 -NX_P36406 64067 574 5.93 5 Cytoplasm;Lysosome membrane;Golgi apparatus membrane;Endomembrane system NA 0 PE1 -NX_P36507 44424 400 6.12 19 Cytosol;Cytoplasm;Membrane Cardiofaciocutaneous syndrome 4 0 PE1 -NX_P36508 61831 570 5.66 6 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P36537 60774 528 9.12 4 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_P36542 32996 298 9.23 10 Cytoplasm;Mitochondrion inner membrane NA 0 PE1 -NX_P36543 26145 226 7.7 22 Nucleoplasm Cutis laxa, autosomal recessive, 2C 0 PE1 -NX_P36544 56449 502 6.02 15 Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_P36551 50152 454 8.59 3 Mitochondrion;Mitochondrion intermembrane space Hereditary coproporphyria 0 PE1 -NX_P36575 42778 388 5.53 X NA Myopia 26, X-linked, female-limited 0 PE1 -NX_P36578 47697 427 11.07 15 Cytosol;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_P36639 22520 197 5.15 7 Mitochondrion matrix;Cytosol;Nucleus NA 0 PE1 -NX_P36776 106489 959 6.01 19 Mitochondrion;Mitochondrion matrix;Nucleus CODAS syndrome 0 PE1 -NX_P36871 61449 562 6.3 1 Cytoplasm;Cytoskeleton Congenital disorder of glycosylation 1T 0 PE1 -NX_P36873 36984 323 6.12 12 Kinetochore;Nucleus speckle;Nucleolus;Cleavage furrow;Nucleoplasm;Cytoplasm;Nucleus;Mitochondrion;Midbody NA 0 PE1 -NX_P36888 112903 993 5.48 13 Endoplasmic reticulum lumen;Endoplasmic reticulum;Membrane Leukemia, acute myelogenous 1 PE1 -NX_P36894 60198 532 7.71 10 Cytosol;Membrane Juvenile polyposis syndrome;Polyposis syndrome, mixed hereditary 2 1 PE1 -NX_P36896 56807 505 6.6 12 Cytosol;Cell membrane NA 1 PE1 -NX_P36897 55960 503 7.51 9 Cytoplasmic vesicle;Cell surface;Cell membrane;Tight junction;Membrane raft Loeys-Dietz syndrome 1;Multiple self-healing squamous epithelioma 1 PE1 -NX_P36915 68661 607 5.57 6 Cytoplasmic vesicle NA 0 PE1 -NX_P36941 46709 435 5.53 12 Golgi apparatus;Membrane NA 1 PE1 -NX_P36952 42100 375 5.72 18 Cytoplasmic vesicle;Extracellular space NA 0 PE1 -NX_P36954 14523 125 5.04 19 Nucleoplasm;Nucleolus NA 0 PE1 -NX_P36955 46312 418 5.97 17 Melanosome;Secreted Osteogenesis imperfecta 6 0 PE1 -NX_P36956 121675 1147 8.43 17 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Golgi apparatus;Cytosol;Golgi apparatus membrane;Nucleus NA 2 PE1 -NX_P36957 48755 453 9.1 14 Mitochondrion matrix;Nucleus NA 0 PE1 -NX_P36959 37419 345 6.6 6 NA NA 0 PE1 -NX_P36969 22175 197 8.69 19 Nucleoplasm;Cytoplasm;Mitochondrion Spondylometaphyseal dysplasia, Sedaghatian type 0 PE1 -NX_P36980 30651 270 6 1 Secreted NA 0 PE1 -NX_P37023 56124 503 7.56 12 Cell membrane Telangiectasia, hereditary hemorrhagic, 2 1 PE1 -NX_P37058 34516 310 8.9 9 Cytoplasmic vesicle;Endoplasmic reticulum Male pseudohermaphrodism with gynecomastia 0 PE1 -NX_P37059 42785 387 8.79 16 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_P37088 75704 669 7.47 12 Apical cell membrane;Flagellum;Acrosome;Cytoplasm;Cytoplasmic granule;Cilium Pseudohypoaldosteronism 1, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 2 2 PE1 -NX_P37108 14570 136 10.05 15 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P37173 64568 567 5.6 3 Membrane raft;Cell membrane Loeys-Dietz syndrome 2;Hereditary non-polyposis colorectal cancer 6;Esophageal cancer 1 PE1 -NX_P37198 53255 522 5.21 19 Nucleus membrane;Nuclear pore complex;Nucleus envelope;Centrosome;Nucleus;Spindle pole Infantile striatonigral degeneration 0 PE1 -NX_P37231 57620 505 5.61 3 Cytoplasmic vesicle;Cytoplasm;Nucleus Lipodystrophy, familial partial, 3;Glioma 1;Obesity 0 PE1 -NX_P37235 22313 193 5.21 2 Membrane NA 0 PE1 -NX_P37268 48115 417 6.1 8 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 2 PE1 -NX_P37275 124074 1124 4.87 10 Nucleoplasm;Nucleus Corneal dystrophy, Fuchs endothelial, 6;Corneal dystrophy, posterior polymorphous, 3 0 PE1 -NX_P37287 54127 484 8.63 X Endoplasmic reticulum membrane Multiple congenital anomalies-hypotonia-seizures syndrome 2;Paroxysmal nocturnal hemoglobinuria 1 1 PE1 -NX_P37288 46800 418 9.48 12 Cell membrane NA 7 PE1 -NX_P37802 22391 199 8.41 1 Cytosol;Cytoskeleton NA 0 PE1 -NX_P37837 37540 337 6.36 11 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Transaldolase deficiency 0 PE1 -NX_P37840 14460 140 4.67 4 Cytosol;Synapse;Secreted;Nucleus;Membrane Parkinson disease 1, autosomal dominant;Parkinson disease 4, autosomal dominant;Dementia Lewy body 0 PE1 -NX_P38117 27844 255 8.25 19 Mitochondrion matrix;Cytoplasm;Mitochondrion Glutaric aciduria 2B 0 PE1 -NX_P38159 42332 391 10.06 X Nucleus Mental retardation, X-linked, syndromic, 11 0 PE1 -NX_P38398 207721 1863 5.29 17 Cytoplasm;Nucleus;Chromosome Ovarian cancer;Breast-ovarian cancer, familial, 1;Fanconi anemia, complementation group S;Breast cancer;Pancreatic cancer 4 0 PE1 -NX_P38405 44308 381 6.23 18 Cytosol;Nucleus Dystonia 25 0 PE1 -NX_P38432 62608 576 9.2 17 Cajal body;Nucleolus;Nucleus NA 0 PE1 -NX_P38435 87561 758 8.17 2 Endoplasmic reticulum membrane Combined deficiency of vitamin K-dependent clotting factors 1;Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 5 PE1 -NX_P38484 37806 337 5.27 21 Endoplasmic reticulum membrane;Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;Golgi apparatus membrane;Cytoplasmic vesicle membrane Immunodeficiency 28 1 PE1 -NX_P38567 57848 509 6.62 7 Cell membrane NA 0 PE1 -NX_P38570 130159 1179 5.48 17 Membrane NA 1 PE1 -NX_P38571 45419 399 6.42 10 Cytoplasmic vesicle;Lysosome Cholesteryl ester storage disease;Wolman disease 0 PE1 -NX_P38606 68304 617 5.35 3 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol Epileptic encephalopathy, infantile or early childhood, 3;Cutis laxa, autosomal recessive, 2D 0 PE1 -NX_P38646 73680 679 5.87 5 Mitochondrion;Nucleolus Anemia, sideroblastic, 4;Even-plus syndrome 0 PE1 -NX_P38919 46871 411 6.3 17 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm Richieri-Costa-Pereira syndrome 0 PE1 -NX_P38935 109149 993 9.13 11 Axon;Cytoplasm;Nucleus Neuronopathy, distal hereditary motor, 6;Charcot-Marie-Tooth disease 2S 0 PE1 -NX_P38936 18119 164 8.69 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P39019 16060 145 10.31 19 Nucleoplasm;Nucleus Diamond-Blackfan anemia 1 0 PE1 -NX_P39023 46109 403 10.19 22 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 -NX_P39059 141720 1388 4.9 9 Endoplasmic reticulum;Extracellular matrix NA 0 PE1 -NX_P39060 178188 1754 5.67 21 Extracellular matrix;Basement membrane;Golgi apparatus;Secreted Knobloch syndrome 1 0 PE1 -NX_P39086 103981 918 6.65 21 Postsynaptic cell membrane;Cell membrane NA 3 PE1 -NX_P39210 19733 176 9.54 2 Mitochondrion inner membrane Mitochondrial DNA depletion syndrome 6 4 PE1 -NX_P39656 50801 456 6.09 1 Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1R 1 PE1 -NX_P39687 28585 249 3.99 15 Cytoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_P39748 42593 380 8.8 11 Nucleoplasm;Mitochondrion;Nucleolus NA 0 PE1 -NX_P39877 15674 138 8.79 1 Secreted Fleck retina, familial benign 0 PE1 -NX_P39880 164187 1505 5.72 7 Nucleus NA 0 PE1 -NX_P39900 54002 470 8.75 11 Extracellular matrix NA 0 PE1 -NX_P39905 23720 211 9.26 5 Cytoplasmic vesicle;Nucleoplasm;Secreted Congenital central hypoventilation syndrome;Pheochromocytoma;Hirschsprung disease 3 0 PE1 -NX_P40121 38499 348 5.82 2 Cytoplasm;Nucleus;Melanosome;Secreted NA 0 PE1 -NX_P40123 52824 477 5.95 6 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_P40126 59145 519 6.73 13 Melanosome;Melanosome membrane NA 1 PE1 -NX_P40145 140122 1251 6.53 8 Synapse;Apical cell membrane;Basolateral cell membrane;Cell membrane;Axon;Dendrite;Coated pit;Clathrin-coated vesicle membrane;Presynaptic cell membrane;Caveola;Postsynaptic density;Membrane raft NA 12 PE1 -NX_P40189 103537 918 5.62 5 Golgi apparatus;Cell membrane;Secreted NA 1 PE1 -NX_P40197 60959 560 9.73 3 Membrane NA 1 PE1 -NX_P40198 27091 252 6.15 19 Membrane NA 1 PE1 -NX_P40199 37195 344 5.56 19 Cell surface;Apical cell membrane;Cell membrane NA 0 PE1 -NX_P40200 65634 585 6.71 3 Membrane C syndrome 1 PE1 -NX_P40205 11733 109 9.03 2 Cytoplasm;Nucleus NA 0 PE1 -NX_P40222 61891 546 6.15 1 Cytosol;Cytoplasm;Centrosome;Nucleoplasm NA 0 PE1 -NX_P40225 37823 353 9.54 3 Secreted Thrombocythemia 1 0 PE1 -NX_P40227 58024 531 6.24 7 Cytoplasm NA 0 PE1 -NX_P40238 71245 635 6.03 1 Cell surface;Cell membrane;Golgi apparatus Myelofibrosis with myeloid metaplasia;Thrombocythemia 2;Congenital amegakaryocytic thrombocytopenia 1 PE1 -NX_P40259 26048 229 5.67 17 Nucleoplasm;Cytosol;Cell membrane Agammaglobulinemia 6, autosomal recessive 1 PE1 -NX_P40261 29574 264 5.56 11 Cytosol;Nucleoplasm;Golgi apparatus;Cytoplasm NA 0 PE1 -NX_P40305 11542 122 11.07 14 Endoplasmic reticulum membrane;Endosome;Nucleus inner membrane;Mitochondrion membrane NA 3 PE1 -NX_P40306 28936 273 7.69 16 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P40313 28002 264 8.56 16 Nucleoplasm NA 0 PE1 -NX_P40337 24153 213 4.7 3 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Membrane von Hippel-Lindau disease;Pheochromocytoma;Renal cell carcinoma;Erythrocytosis, familial, 2 0 PE1 -NX_P40394 41481 386 8.12 4 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_P40424 46626 430 6.54 1 Nucleus Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0 PE1 -NX_P40425 45881 430 7.18 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_P40426 47190 434 6.57 9 Cytoplasm;Nucleus NA 0 PE1 -NX_P40429 23577 203 10.94 19 Cytoplasm NA 0 PE1 -NX_P40616 20418 181 5.63 12 Golgi apparatus membrane;Golgi apparatus;Membrane NA 0 PE1 -NX_P40617 22615 200 9.26 7 Nucleoplasm;Cytoplasm;Nucleolus;Cytosol;Cell membrane NA 0 PE1 -NX_P40692 84601 756 5.51 3 Nucleoplasm;Nucleus;Chromosome Hereditary non-polyposis colorectal cancer 2;Endometrial cancer;Muir-Torre syndrome;Mismatch repair cancer syndrome;Colorectal cancer 0 PE1 -NX_P40763 88068 770 5.94 17 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant;Autoimmune disease, multisystem, infantile-onset, 1 0 PE1 -NX_P40818 127523 1118 8.7 15 Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Endosome membrane;Nucleus Pituitary adenoma 4, ACTH-secreting 0 PE1 -NX_P40855 32807 299 4.26 1 Cytoplasm;Peroxisome membrane;Peroxisome Peroxisome biogenesis disorder 12A;Peroxisome biogenesis disorder complementation group 14 0 PE1 -NX_P40879 84505 764 8.87 7 Apical cell membrane;Membrane Diarrhea 1, secretory chloride, congenital 10 PE1 -NX_P40925 36426 334 6.91 2 Cytosol;Cytoplasm;Centrosome NA 0 PE1 -NX_P40926 35503 338 8.92 7 Mitochondrion matrix;Mitochondrion Epileptic encephalopathy, early infantile, 51 0 PE1 -NX_P40933 18086 162 5.13 4 Nucleoplasm;Nucleus speckle;Cytoplasm;Nucleus;Secreted NA 0 PE1 -NX_P40937 38497 340 6.72 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_P40938 40556 356 8.66 13 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P40939 83000 763 9.16 2 Mitochondrion Maternal acute fatty liver of pregnancy;Long-chain 3-hydroxyl-CoA dehydrogenase deficiency;Mitochondrial trifunctional protein deficiency 0 PE1 -NX_P40967 70255 661 5.37 12 Endoplasmic reticulum membrane;Melanosome;Multivesicular body;Golgi apparatus;Secreted NA 1 PE1 -NX_P41002 87640 786 5.92 16 Centriole;Nucleus;Centrosome NA 0 PE1 -NX_P41091 51109 472 8.66 X NA MEHMO syndrome 0 PE1 -NX_P41134 16133 155 6.57 20 Nucleoplasm;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_P41143 40369 372 9.21 1 Cell membrane NA 7 PE1 -NX_P41145 42645 380 7.92 8 Cytosol;Nucleus;Cell membrane NA 7 PE1 -NX_P41146 40693 370 8.74 20 Cytoplasmic vesicle;Cell membrane NA 7 PE1 -NX_P41159 18641 167 5.88 7 Secreted Leptin deficiency 0 PE1 -NX_P41161 57838 510 5.43 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_P41162 57001 512 8.73 1 Nucleus NA 0 PE1 -NX_P41180 120675 1078 5.62 3 Cell membrane Hyperparathyroidism, neonatal severe;Hypocalcemia, autosomal dominant 1;Epilepsy, idiopathic generalized 8;Hypocalciuric hypercalcemia, familial 1 7 PE1 -NX_P41181 28837 271 6.44 12 trans-Golgi network membrane;Cytoplasmic vesicle membrane;Apical cell membrane;Basolateral cell membrane Diabetes insipidus, nephrogenic, autosomal 6 PE1 -NX_P41182 78846 706 8.28 3 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_P41208 19738 172 4.91 X Centriole;Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_P41212 53000 452 6.95 12 Cytosol;Nucleolus;Nucleus Leukemia, acute myelogenous;Thrombocytopenia 5;Myeloproliferative disorder chronic with eosinophilia 0 PE1 -NX_P41214 64706 584 7.56 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P41217 31264 278 8.78 3 Cell membrane NA 1 PE1 -NX_P41218 45836 407 9.76 1 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P41219 53651 470 5.37 12 NA NA 0 PE1 -NX_P41220 24382 211 9.05 1 Mitochondrion;Cytosol;Nucleolus;Cell membrane;Cytoplasm NA 0 PE1 -NX_P41221 42339 380 8.83 3 Extracellular matrix;Secreted Robinow syndrome, autosomal dominant 1 0 PE1 -NX_P41222 21029 190 7.66 9 Rough endoplasmic reticulum;Nucleus membrane;Golgi apparatus;Secreted;Nucleoplasm;Perinuclear region NA 0 PE1 -NX_P41223 17000 144 9.1 7 Cytoskeleton;Nucleus;Centrosome NA 0 PE1 -NX_P41225 45210 446 9.78 X Nucleoplasm;Nucleus 46,XX sex reversal 3;Mental retardation, X-linked, with isolated growth hormone deficiency;Panhypopituitarism X-linked 0 PE1 -NX_P41226 111694 1012 5.64 3 Nucleoplasm;Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_P41227 26459 235 5.41 X Cytosol;Cytoplasm;Nucleolus;Nucleus Microphthalmia, syndromic, 1;N-terminal acetyltransferase deficiency 0 PE1 -NX_P41229 175720 1560 5.44 X Cytosol;Nucleoplasm;Nucleus Mental retardation, X-linked, syndromic, Claes-Jensen type 0 PE1 -NX_P41231 42273 377 9.72 11 Cytosol;Cell membrane NA 7 PE1 -NX_P41235 52785 474 7.15 20 Nucleoplasm;Nucleus Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young;Diabetes mellitus, non-insulin-dependent;Maturity-onset diabetes of the young 1 0 PE1 -NX_P41236 23015 205 4.64 3 Cytoplasm;Nucleus NA 0 PE1 -NX_P41238 28192 236 9.06 12 Cytoplasm NA 0 PE1 -NX_P41240 50704 450 6.62 15 Cytoplasmic vesicle;Cytoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_P41247 27980 253 9.21 X Mitochondrion NA 0 PE1 -NX_P41250 83166 739 6.61 7 Cytosol;Cytoplasm;Axon;Exosome;Secreted Charcot-Marie-Tooth disease 2D;Neuronopathy, distal hereditary motor, 5A 0 PE1 -NX_P41252 144498 1262 5.82 9 Cytosol;Cytoplasm Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 PE1 -NX_P41271 19408 181 5.15 1 Secreted NA 0 PE1 -NX_P41273 26625 254 6.52 19 Golgi apparatus;Membrane NA 1 PE1 -NX_P41279 52925 467 5.54 10 Cytosol;Cytoplasm NA 0 PE1 -NX_P41439 27638 243 8.12 11 Secreted NA 0 PE1 -NX_P41440 64868 591 9.15 21 Cell membrane;Membrane NA 12 PE1 -NX_P41567 12732 113 6.9 17 NA NA 0 PE1 -NX_P41586 53314 468 5.5 7 Cytoplasmic vesicle;Cell membrane NA 7 PE1 -NX_P41587 49479 438 8.29 7 Cell membrane NA 7 PE1 -NX_P41594 132469 1212 8.07 11 Cell membrane NA 7 PE1 -NX_P41595 54298 481 9.22 2 Nucleoplasm;Synaptosome;Cell membrane NA 7 PE1 -NX_P41597 41915 374 9.24 3 Cell membrane NA 7 PE1 -NX_P41732 27574 249 6.86 X Membrane Mental retardation, X-linked 58 4 PE1 -NX_P41743 68262 596 5.54 3 Endosome;Cytosol;Cytoplasm;Nucleus;Membrane;Cytoskeleton NA 0 PE1 -NX_P41968 36043 323 6.34 20 Cell membrane NA 7 PE1 -NX_P41970 44240 407 9.04 12 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_P42025 42293 376 5.98 2 Cytoplasm;Cytoskeleton;Centrosome NA 0 PE1 -NX_P42081 37682 329 6.46 3 Cell membrane NA 1 PE1 -NX_P42126 32816 302 8.8 16 Mitochondrion matrix NA 0 PE1 -NX_P42127 14515 132 9.78 20 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P42166 75492 694 7.56 12 Nucleus;Chromosome;Nucleus membrane NA 0 PE1 -NX_P42167 50670 454 9.39 12 Cytoplasm;Nucleus inner membrane NA 1 PE1 -NX_P42224 87335 750 5.74 2 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Immunodeficiency 31B;Immunodeficiency 31C;Immunodeficiency 31A 0 PE1 -NX_P42226 94135 847 5.84 12 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_P42229 90647 794 5.98 17 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_P42261 101506 906 7.79 5 Endoplasmic reticulum membrane;Early endosome membrane;Cell membrane;Dendrite;Postsynaptic cell membrane;Dendritic spine;Postsynaptic density;Recycling endosome membrane NA 3 PE1 -NX_P42262 98821 883 7.48 4 Endoplasmic reticulum membrane;Postsynaptic cell membrane;Cell membrane NA 3 PE1 -NX_P42263 101157 894 8.72 X Postsynaptic cell membrane;Cell membrane Mental retardation, X-linked 94 3 PE1 -NX_P42285 117805 1042 6.12 5 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P42330 36853 323 8.06 10 Cytoplasm;Nucleus NA 0 PE1 -NX_P42331 73435 645 6.04 2 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_P42336 124284 1068 6.88 3 Cytosol Colorectal cancer;Keratosis, seborrheic;Ovarian cancer;Cowden syndrome 5;Hepatocellular carcinoma;Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi;Megalencephaly-capillary malformation-polymicrogyria syndrome;Breast cancer 0 PE1 -NX_P42338 122762 1070 6.69 3 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Midbody NA 0 PE1 -NX_P42345 288892 2549 6.73 1 Endoplasmic reticulum membrane;PML body;Lysosome;Cytosol;Cytoplasm;Mitochondrion outer membrane;Cytoplasmic vesicle;Golgi apparatus membrane;Microsome membrane Focal cortical dysplasia 2;Smith-Kingsmore syndrome 0 PE1 -NX_P42356 236830 2102 6.64 22 Cytoplasm;Cell membrane Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 PE1 -NX_P42357 72698 657 6.49 12 Cytosol Histidinemia 0 PE1 -NX_P42566 98656 896 4.52 1 Cytosol;Cytoplasm;Early endosome membrane;Clathrin-coated pit;Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_P42568 63351 568 8.77 9 Cytosol;Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_P42574 31608 277 6.09 4 Nucleoplasm;Mitochondrion;Cytoplasm NA 0 PE1 -NX_P42575 50685 452 6.35 7 Nucleoplasm NA 0 PE1 -NX_P42658 97588 865 5.95 7 Cell membrane Mental retardation, autosomal dominant 33;Familial paroxysmal ventricular fibrillation 2 1 PE1 -NX_P42677 9461 84 9.57 1 NA Diamond-Blackfan anemia 17 0 PE1 -NX_P42679 56469 507 9.01 19 Cytoplasm;Membrane NA 0 PE1 -NX_P42680 73581 631 8.69 4 Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_P42681 61258 527 8.23 4 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_P42684 128343 1182 8.31 1 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_P42685 58254 505 6.22 6 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P42694 218970 1942 7.04 17 Cytoskeleton;Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_P42695 168891 1498 7.38 11 Nucleoplasm;Nucleus Microcephaly 22, primary, autosomal recessive 0 PE1 -NX_P42696 48565 430 10.11 1 Nucleolus;Nucleus NA 0 PE1 -NX_P42701 73109 662 5.28 19 Cell membrane;Membrane Immunodeficiency 30 1 PE1 -NX_P42702 123743 1097 5.5 5 Nucleus speckle;Cell membrane;Golgi apparatus Stueve-Wiedemann syndrome 1 PE1 -NX_P42704 157905 1394 5.81 2 Mitochondrion;Nucleoplasm;Nucleus inner membrane;Nucleus outer membrane Leigh syndrome French-Canadian type 0 PE1 -NX_P42765 41924 397 8.32 18 Mitochondrion NA 0 PE1 -NX_P42766 14551 123 11.04 9 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_P42768 52913 502 6.18 X Cytoskeleton;Nucleus Thrombocytopenia 1;Neutropenia, severe congenital, X-linked;Wiskott-Aldrich syndrome 0 PE1 -NX_P42771 16533 156 5.52 9 Cytoplasm;Nucleus Melanoma, cutaneous malignant 2;Melanoma-astrocytoma syndrome;Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome 0 PE1 -NX_P42772 14722 138 6.08 9 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_P42773 18127 168 6.05 1 Nucleoplasm;Cytosol NA 0 PE1 -NX_P42785 55800 496 6.76 11 Lysosome NA 0 PE1 -NX_P42830 11972 114 9.17 4 Secreted NA 0 PE1 -NX_P42857 20913 185 5.6 4 Endoplasmic reticulum membrane;Golgi stack membrane;Lysosome lumen;trans-Golgi network membrane;Early endosome membrane;Endosome membrane;Dendrite;Late endosome membrane;Multivesicular body membrane;Membrane;Mitochondrion;Cytoplasmic vesicle membrane;Recycling endosome membrane NA 1 PE1 -NX_P42858 347603 3142 5.81 4 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Huntington disease;Lopes-Maciel-Rodan syndrome 0 PE1 -NX_P42892 87164 770 5.61 1 Cell membrane Hirschsprung disease, cardiac defects, and autonomic dysfunction 1 PE1 -NX_P42898 74597 656 5.22 1 Cell junction Ischemic stroke;Neural tube defects, folate-sensitive;Schizophrenia;Methylenetetrahydrofolate reductase deficiency 0 PE1 -NX_P43003 59572 542 8.52 5 Mitochondrion;Nucleolus;Cell membrane Episodic ataxia 6 8 PE1 -NX_P43004 62104 574 6.09 11 Cell membrane Epileptic encephalopathy, early infantile, 41 8 PE1 -NX_P43005 57100 524 5.56 9 Apical cell membrane;Cell membrane Schizophrenia 18;Dicarboxylic aminoaciduria 8 PE1 -NX_P43007 55723 532 5.88 2 Melanosome;Centrosome;Membrane Spastic tetraplegia, thin corpus callosum, and progressive microcephaly 9 PE1 -NX_P43026 55411 501 9.82 20 Cell membrane;Secreted Brachydactyly A1, C;Brachydactyly A2;Symphalangism, proximal 1B;Multiple synostoses syndrome 2;Acromesomelic chondrodysplasia, Hunter-Thompson type;Osteoarthritis 5;Du Pan syndrome;Brachydactyly C;Acromesomelic chondrodysplasia, Grebe type 0 PE1 -NX_P43034 46638 410 6.97 17 Spindle;Cytoskeleton;Centrosome;Nucleus membrane Lissencephaly 1;Subcortical band heterotopia;Miller-Dieker lissencephaly syndrome 0 PE1 -NX_P43080 22920 201 4.34 6 Cell membrane;Membrane Cone dystrophy 3 0 PE1 -NX_P43088 40055 359 9.19 1 Cell membrane NA 7 PE1 -NX_P43115 43310 390 9.73 1 Cell membrane NA 7 PE1 -NX_P43116 39761 358 9.37 14 Cell membrane NA 7 PE1 -NX_P43119 40956 386 8.9 19 Cell membrane NA 7 PE1 -NX_P43121 71607 646 5.58 11 Cell membrane;Membrane NA 1 PE1 -NX_P43146 158457 1447 6.32 18 Golgi apparatus;Membrane Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2 1 PE1 -NX_P43155 70858 626 8.63 9 Nucleus membrane;Nucleoplasm;Endoplasmic reticulum;Mitochondrion inner membrane;Peroxisome;Mitochondrion Neurodegeneration with brain iron accumulation 8 0 PE1 -NX_P43166 29658 264 6.92 16 Cytoplasm NA 0 PE1 -NX_P43220 53026 463 8.49 6 Cell membrane NA 7 PE1 -NX_P43234 35958 321 7.06 4 Lysosome NA 0 PE1 -NX_P43235 36966 329 8.72 1 Cytoplasmic vesicle;Lysosome Pycnodysostosis 0 PE1 -NX_P43243 94623 847 5.87 5 Nucleoplasm;Nucleus matrix Amyotrophic lateral sclerosis 21 0 PE1 -NX_P43246 104743 934 5.58 2 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Chromosome Endometrial cancer;Hereditary non-polyposis colorectal cancer 1;Mismatch repair cancer syndrome;Muir-Torre syndrome;Colorectal cancer 0 PE1 -NX_P43250 65991 576 8.32 5 Mitochondrion;Membrane NA 0 PE1 -NX_P43251 61133 543 5.81 3 Extracellular space Biotinidase deficiency 0 PE1 -NX_P43268 53938 484 5.31 17 Nucleolus;Nucleus NA 0 PE1 -NX_P43304 80853 727 7.58 2 Mitochondrion NA 0 PE1 -NX_P43307 32235 286 4.39 6 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_P43308 20135 183 7.94 1 Endoplasmic reticulum membrane NA 1 PE1 -NX_P43320 23380 205 6.5 22 Nucleoplasm Cataract 3, multiple types 0 PE1 -NX_P43351 46169 418 8.49 12 Nucleus speckle;Nucleus;Cell membrane NA 0 PE1 -NX_P43353 51840 468 7.55 11 Cell membrane NA 0 PE1 -NX_P43354 66591 598 8.19 2 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_P43355 34342 309 4.83 X Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P43356 35055 314 4.7 X PML body;Nucleus NA 0 PE1 -NX_P43357 34747 314 4.57 X NA NA 0 PE1 -NX_P43358 34899 317 4.68 X Cytosol;Nucleus speckle NA 0 PE1 -NX_P43359 13016 124 4.63 X NA NA 0 PE2 -NX_P43360 34891 314 4.57 X NA NA 0 PE1 -NX_P43361 35215 318 4.71 X NA NA 0 PE1 -NX_P43362 35088 315 4.49 X NA NA 0 PE1 -NX_P43363 40780 369 4.32 X Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_P43364 48129 429 4.69 X Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_P43365 34836 314 4.71 X NA NA 0 PE1 -NX_P43366 39037 347 8.56 X NA NA 0 PE1 -NX_P43378 68020 593 8.19 15 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_P43403 69872 619 7.78 2 Cytoplasm;Cell membrane Immunodeficiency 48;Autoimmune disease, multisystem, infantile-onset, 2 0 PE1 -NX_P43405 72066 635 8.43 9 Cytosol;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_P43487 23310 201 5.19 22 Cytosol;Cytoplasm NA 0 PE1 -NX_P43489 29341 277 8.68 1 Membrane Immunodeficiency 16 1 PE1 -NX_P43490 55521 491 6.69 7 Nucleus speckle;Secreted;Nucleus;Cell junction;Cytoplasm NA 0 PE1 -NX_P43626 38505 348 6.34 19 Cell membrane NA 1 PE1 -NX_P43627 38472 348 6.46 19 Cell membrane NA 1 PE1 -NX_P43628 37886 341 6.23 19 Cell membrane NA 1 PE1 -NX_P43629 49098 444 9.02 19 Cell membrane NA 1 PE1 -NX_P43630 50230 455 8.78 19 Cell membrane NA 1 PE1 -NX_P43631 33502 304 6.13 19 Cell membrane NA 1 PE1 -NX_P43632 33583 304 5.98 19 Cell membrane NA 1 PE1 -NX_P43652 69069 599 5.64 4 Secreted NA 0 PE1 -NX_P43657 39392 344 9.22 13 Cytoplasmic vesicle;Cell membrane Hypotrichosis 8;Woolly hair autosomal recessive 1 with or without hypotrichosis 7 PE1 -NX_P43681 69957 627 6.81 20 Postsynaptic cell membrane;Cell membrane Epilepsy, nocturnal frontal lobe, 1 4 PE1 -NX_P43686 47366 418 5.09 19 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P43694 44565 442 9.39 8 Nucleus Atrioventricular septal defect 4;Testicular anomalies with or without congenital heart disease;Tetralogy of Fallot;Atrial septal defect 2;Ventricular septal defect 1 0 PE1 -NX_P43699 38596 371 9.72 14 Cytoplasmic vesicle;Nucleus;Golgi apparatus Chorea, hereditary benign;Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction;Thyroid cancer, non-medullary, 1 0 PE1 -NX_P43897 35391 325 8.62 12 Mitochondrion;Nucleus Combined oxidative phosphorylation deficiency 3 0 PE1 -NX_P45378 31825 269 5.71 11 NA Arthrogryposis, distal, 2B 0 PE1 -NX_P45379 35924 298 4.94 1 Focal adhesion;Nucleolus;Nucleus Cardiomyopathy, familial hypertrophic 2;Cardiomyopathy, dilated 1D;Cardiomyopathy, familial restrictive 3 0 PE1 -NX_P45381 35735 313 6.06 17 Cytosol;Cytoplasm;Nucleus Canavan disease 0 PE1 -NX_P45452 53820 471 5.32 11 Extracellular matrix;Secreted Metaphyseal dysplasia, Spahr type;Spondyloepimetaphyseal dysplasia Missouri type;Metaphyseal anadysplasia 1 0 PE1 -NX_P45844 75592 678 8.02 21 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus NA 6 PE1 -NX_P45877 22763 212 8.48 5 Cytoplasm NA 0 PE1 -NX_P45880 31567 294 7.5 10 Mitochondrion;Mitochondrion outer membrane NA 19 PE1 -NX_P45954 47485 432 6.53 10 Mitochondrion;Mitochondrion matrix Short/branched-chain acyl-CoA dehydrogenase deficiency 0 PE1 -NX_P45973 22225 191 5.71 12 Centromere;Nucleus;Chromosome NA 0 PE1 -NX_P45974 95786 858 4.91 12 Cytosol;Nucleoplasm NA 0 PE1 -NX_P45983 48296 427 6.43 10 Cytoplasm;Nucleus NA 0 PE1 -NX_P45984 48139 424 5.41 5 Cytoplasm;Nucleus NA 0 PE1 -NX_P45985 44288 399 8.28 17 Nucleoplasm;Cytoplasm;Nucleus;Cell junction NA 0 PE1 -NX_P46013 358694 3256 9.49 10 Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_P46019 138408 1235 5.99 X Nucleoplasm;Cell membrane Glycogen storage disease 9A 0 PE1 -NX_P46020 137312 1223 5.8 X Cytoplasmic vesicle;Cell membrane Glycogen storage disease 9D 0 PE1 -NX_P46059 78806 708 8.72 13 Cytosol;Nucleoplasm;Membrane NA 12 PE1 -NX_P46060 63542 587 4.63 22 Kinetochore;Nucleus membrane;Cytosol;Cytoplasm;Nucleus envelope;Cytoplasmic vesicle;Nucleoplasm;Spindle NA 0 PE1 -NX_P46063 73457 649 8.13 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_P46087 89302 812 9.27 12 Nucleolus;Nucleus NA 0 PE1 -NX_P46089 35010 330 8.4 1 Cell membrane NA 7 PE1 -NX_P46091 41431 355 6.98 2 Nucleoplasm;Cytoplasmic vesicle;Cell membrane NA 7 PE1 -NX_P46092 38416 362 9.85 17 Cell membrane;Endoplasmic reticulum NA 7 PE1 -NX_P46093 40982 362 8.82 19 Cell membrane NA 7 PE2 -NX_P46094 38508 333 8.94 3 Cell membrane NA 7 PE1 -NX_P46095 37881 362 7.61 6 Cell membrane NA 7 PE1 -NX_P46098 55280 478 7.04 11 Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_P46100 282586 2492 6.2 X PML body;Nucleus;Telomere Alpha-thalassemia mental retardation syndrome, X-linked;Alpha-thalassemia myelodysplasia syndrome;Mental retardation, X-linked, syndromic, with hypotonic facies 1 0 PE1 -NX_P46108 33831 304 5.38 17 Cytoplasm;Cell membrane NA 0 PE1 -NX_P46109 33777 303 6.26 22 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_P46199 81317 727 6.71 2 Mitochondrion NA 0 PE1 -NX_P46379 119409 1132 5.4 6 Nucleoplasm;Cytosol;Nucleus;Exosome NA 0 PE1 -NX_P46439 25675 218 6.91 1 Cytoplasm NA 0 PE1 -NX_P46459 82594 744 6.52 17 Cytosol;Cytoplasm NA 0 PE1 -NX_P46527 22073 198 6.54 12 Cytoplasmic vesicle;Cytoplasm;Endosome;Nucleus Multiple endocrine neoplasia 4 0 PE1 -NX_P46531 272505 2555 4.95 9 Nucleoplasm;Nucleus;Cell membrane Aortic valve disease 1;Adams-Oliver syndrome 5 1 PE1 -NX_P46597 38453 345 5.05 X NA NA 0 PE1 -NX_P46663 40495 353 9.5 14 Cell membrane NA 7 PE1 -NX_P46695 16903 156 8.61 6 Membrane NA 1 PE1 -NX_P46721 74145 670 5.69 12 Cell membrane NA 12 PE1 -NX_P46734 39318 347 7.05 17 Nucleoplasm;Cytosol NA 0 PE1 -NX_P46736 36072 316 5.59 X Nucleoplasm;Cytoplasm;Nucleus;Spindle pole NA 0 PE1 -NX_P46776 16561 148 11 11 Cytosol;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_P46777 34363 297 9.73 1 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum Diamond-Blackfan anemia 6 0 PE1 -NX_P46778 18565 160 10.49 13 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum Hypotrichosis 12 0 PE1 -NX_P46779 15748 137 12.02 19 Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P46781 22591 194 10.66 19 Cytoplasm NA 0 PE1 -NX_P46782 22876 204 9.73 19 Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P46783 18898 165 10.15 6 Cytoplasm;Nucleolus Diamond-Blackfan anemia 9 0 PE1 -NX_P46821 270634 2468 4.73 5 Cytosol;Cytoplasm;Synapse;Cytoskeleton;Dendritic spine NA 0 PE1 -NX_P46926 32669 289 6.42 5 Cytoplasm NA 0 PE1 -NX_P46934 149114 1319 6.15 15 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_P46937 54462 504 5 11 Cytoplasm;Nucleolus;Nucleus Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 0 PE1 -NX_P46939 394466 3433 5.2 6 Nucleoplasm;Cytoskeleton;Postsynaptic cell membrane;Cell membrane NA 0 PE1 -NX_P46940 189252 1657 6.08 15 Cytoplasm;Nucleus;Cell junction;Cell membrane NA 0 PE1 -NX_P46952 32556 286 5.62 2 Cytosol Vertebral, cardiac, renal, and limb defects syndrome 1 0 PE1 -NX_P46976 39384 350 5.27 3 Cytoplasmic vesicle Glycogen storage disease 15;Polyglucosan body myopathy 2 0 PE1 -NX_P46977 80530 705 8.28 11 Endoplasmic reticulum membrane;Cytosol;Cytoplasmic vesicle;Endoplasmic reticulum;Nucleoplasm Congenital disorder of glycosylation 1W 13 PE1 -NX_P47211 38953 349 9.55 18 Cell membrane NA 7 PE1 -NX_P47224 13839 123 5.37 1 Cytoskeleton NA 0 PE1 -NX_P47710 21671 185 5.32 4 Secreted NA 0 PE1 -NX_P47712 85239 749 5.22 1 Cytoplasmic vesicle;Cytoplasm;Cytosol NA 0 PE1 -NX_P47736 73361 663 5.55 1 Cytosol;Golgi apparatus membrane NA 0 PE1 -NX_P47755 32949 286 5.57 7 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_P47756 31350 277 5.36 1 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm;Sarcomere;Cytoskeleton NA 0 PE1 -NX_P47775 36730 334 6.63 13 Cell membrane NA 7 PE1 -NX_P47804 31874 291 8.35 10 Membrane Retinitis pigmentosa 44 7 PE1 -NX_P47813 16460 144 5.07 X Cytoplasm NA 0 PE1 -NX_P47869 51326 451 9.17 4 Dendrite;Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_P47870 59150 512 9.39 5 Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, infantile or early childhood, 2 4 PE1 -NX_P47871 54009 477 9.01 17 Golgi apparatus;Cell membrane NA 7 PE1 -NX_P47872 50207 440 7.88 2 Cell membrane NA 7 PE1 -NX_P47874 18937 163 5.33 11 Cytoplasm NA 0 PE1 -NX_P47881 34609 315 9.27 17 Cell membrane NA 7 PE2 -NX_P47883 37194 348 6.47 17 Cell membrane NA 7 PE5 -NX_P47884 35227 311 8.29 17 Cell membrane NA 7 PE1 -NX_P47887 36391 323 7.9 17 Cell membrane NA 7 PE2 -NX_P47888 34963 321 7.01 17 Cell membrane NA 7 PE2 -NX_P47890 34924 313 6.53 17 Cell membrane NA 7 PE2 -NX_P47893 35207 321 7.56 17 Cell membrane NA 7 PE2 -NX_P47895 56108 512 6.99 15 Cytosol;Cytoplasm;Nucleus Microphthalmia, isolated, 8 0 PE1 -NX_P47897 87799 775 6.71 3 Cytosol;Cytoplasm Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 0 PE1 -NX_P47898 40255 357 9 7 Cell membrane NA 7 PE2 -NX_P47900 42072 373 9.45 3 Cell membrane NA 7 PE1 -NX_P47901 46971 424 9.21 1 Cell membrane NA 7 PE2 -NX_P47902 28138 265 9.58 5 Nucleus NA 0 PE1 -NX_P47914 17752 159 11.66 3 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_P47928 16622 161 8.69 6 Nucleus NA 0 PE1 -NX_P47929 15075 136 7.02 19 Cytoplasm;Nucleus;Secreted NA 0 PE1 -NX_P47944 6509 62 8.26 16 NA NA 0 PE2 -NX_P47972 47042 431 5.45 7 Cytoskeleton;Centrosome;Golgi apparatus;Secreted NA 0 PE1 -NX_P47974 51063 494 8.52 2 Cytoplasm;Nucleus NA 0 PE1 -NX_P47985 29668 274 8.55 19 Cytoplasm;Mitochondrion inner membrane NA 1 PE1 -NX_P47989 146424 1333 7.86 2 Cytoplasm;Secreted;Nucleus;Peroxisome Xanthinuria 1 0 PE1 -NX_P47992 12517 114 10.22 1 Secreted NA 0 PE1 -NX_P48023 31485 281 9.41 1 Cytoplasmic vesicle lumen;Lysosome lumen;Nucleus;Cell membrane;Secreted Autoimmune lymphoproliferative syndrome 1B 1 PE1 -NX_P48029 70523 635 6.02 X Membrane Cerebral creatine deficiency syndrome 1 12 PE1 -NX_P48039 39375 350 9.55 4 Cell membrane NA 7 PE1 -NX_P48047 23277 213 9.97 21 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P48048 44795 391 9.03 11 Cell membrane Bartter syndrome 2, antenatal 2 PE1 -NX_P48050 49500 445 5.82 22 Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane NA 2 PE1 -NX_P48051 48451 423 5.24 21 Membrane Keppen-Lubinsky syndrome 2 PE1 -NX_P48052 47030 419 5.68 7 Secreted NA 0 PE1 -NX_P48058 100871 902 8.32 11 Dendrite;Postsynaptic cell membrane;Cell membrane Neurodevelopmental disorder with or without seizures and gait abnormalities 3 PE1 -NX_P48059 37251 325 8.43 2 Focal adhesion;Cell membrane NA 0 PE1 -NX_P48060 30366 266 8.8 12 Membrane NA 1 PE1 -NX_P48061 10666 93 9.92 10 Secreted NA 0 PE1 -NX_P48065 69368 614 5.96 12 Cytoplasmic vesicle;Membrane NA 12 PE1 -NX_P48066 70606 632 6.52 3 Membrane NA 12 PE1 -NX_P48067 78260 706 8.21 1 Nucleus;Golgi apparatus;Membrane Glycine encephalopathy with normal serum glycine 12 PE1 -NX_P48145 36103 328 9.05 8 Cell membrane NA 7 PE1 -NX_P48146 36861 333 9.35 20 Cell membrane NA 7 PE1 -NX_P48147 80700 710 5.53 6 Cytosol;Cytoplasm NA 0 PE1 -NX_P48163 64150 572 5.79 6 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA 0 PE1 -NX_P48165 48229 433 5.21 1 Gap junction;Cell membrane Cataract 1, multiple types 4 PE1 -NX_P48167 56122 497 9.03 4 Cytoplasm;Synapse;Postsynaptic cell membrane;Cell membrane;Dendrite Hyperekplexia 2 4 PE1 -NX_P48169 61623 554 9.59 4 Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_P48200 105059 963 6.62 15 Cytosol;Cytoplasm;Cell junction NA 0 PE1 -NX_P48201 14693 142 9.57 2 Mitochondrion membrane NA 2 PE1 -NX_P48230 21396 202 4.91 3 Cytosol;Cell membrane;Membrane NA 4 PE1 -NX_P48304 18665 166 5.67 2 Secreted NA 0 PE1 -NX_P48307 26934 235 8.88 7 Secreted NA 0 PE1 -NX_P48357 132494 1165 6.09 1 Cytoplasmic vesicle;Basolateral cell membrane;Cell membrane;Secreted Leptin receptor deficiency 1 PE1 -NX_P48378 79987 723 6.29 19 Cytosol;Nucleoplasm;Nucleus;Golgi apparatus;Cytoplasm NA 0 PE1 -NX_P48380 83530 749 5.64 9 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_P48382 65323 616 9.35 1 Nucleus Bare lymphocyte syndrome 2 0 PE1 -NX_P48426 46225 406 6.5 10 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Cell membrane NA 0 PE1 -NX_P48431 34310 317 9.74 3 Nucleoplasm;Nucleus Microphthalmia, syndromic, 3 0 PE1 -NX_P48436 56137 509 6.31 17 Nucleoplasm;Nucleus 46,XX sex reversal 2;46,XY sex reversal 10;Campomelic dysplasia 0 PE1 -NX_P48443 50871 463 7.55 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_P48444 57210 511 5.89 11 COPI-coated vesicle membrane;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 0 PE1 -NX_P48448 42635 385 5.65 11 Lipid droplet NA 0 PE2 -NX_P48449 83309 732 6.16 21 Cytosol;Endoplasmic reticulum membrane Cataract 44 0 PE1 -NX_P48454 58129 512 6.51 8 Cytoplasmic vesicle NA 0 PE1 -NX_P48506 72766 637 5.74 6 Cytosol;Nucleolus;Nucleus Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 0 PE1 -NX_P48507 30727 274 5.7 1 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_P48509 28295 253 7.45 11 Membrane Nephropathy with pretibial epidermolysis bullosa and deafness 4 PE1 -NX_P48539 6791 62 6.21 21 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_P48544 47668 419 5.24 11 Membrane Long QT syndrome 13;Hyperaldosteronism, familial, 3 2 PE1 -NX_P48546 53157 466 9.09 19 Cell membrane NA 7 PE1 -NX_P48547 57942 511 6.13 11 Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane;Nucleus membrane Epilepsy, progressive myoclonic 7 6 PE1 -NX_P48549 56603 501 8.46 2 Membrane NA 2 PE1 -NX_P48551 57759 515 4.37 21 Cell membrane;Secreted Immunodeficiency 45 1 PE1 -NX_P48552 126942 1158 8.36 21 Nucleolus;Nucleus NA 0 PE1 -NX_P48553 142189 1259 5.68 21 cis-Golgi network NA 0 PE1 -NX_P48556 39612 350 9.73 19 Cytosol;Cytoplasm;Golgi apparatus;Nucleus speckle NA 0 PE1 -NX_P48594 44854 390 5.86 18 Cytoplasm NA 0 PE1 -NX_P48595 45403 397 5.8 18 Cytoplasm;Nucleus NA 0 PE1 -NX_P48634 228863 2157 9.48 6 Cytosol;Nucleoplasm;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 -NX_P48637 52385 474 5.67 20 Nucleus Glutathione synthetase deficiency of erythrocytes;Glutathione synthetase deficiency 0 PE1 -NX_P48643 59671 541 5.45 5 Cytosol;Cytoplasm;Nucleolus;Centrosome Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 0 PE1 -NX_P48645 19741 174 9.14 4 Secreted NA 0 PE1 -NX_P48651 55528 473 8.71 8 Nucleoplasm;Endoplasmic reticulum membrane;Endoplasmic reticulum Lenz-Majewski hyperostotic dwarfism 9 PE1 -NX_P48664 61565 564 9.26 19 Cytoskeleton;Cell membrane NA 8 PE1 -NX_P48668 60025 564 8.09 12 NA Palmoplantar keratoderma, non-epidermolytic, focal or diffuse 0 PE1 -NX_P48681 177439 1621 4.35 1 Cytoskeleton NA 0 PE1 -NX_P48723 51927 471 5.52 21 Microsome;Endoplasmic reticulum NA 0 PE1 -NX_P48728 43946 403 8.87 3 Mitochondrion;Nucleoplasm Non-ketotic hyperglycinemia 0 PE1 -NX_P48729 38915 337 9.59 5 Kinetochore;Nucleus speckle;Cilium basal body;Centrosome;Cytoplasm NA 0 PE1 -NX_P48730 47330 415 9.77 17 Nucleolus;Golgi apparatus;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Spindle;Centrosome Advanced sleep phase syndrome, familial, 2 0 PE1 -NX_P48735 50909 452 8.88 15 Mitochondrion Glioma;D-2-hydroxyglutaric aciduria 2 0 PE1 -NX_P48736 126454 1102 7.23 7 Cytoplasm;Cell membrane NA 0 PE1 -NX_P48739 31540 271 6.41 22 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_P48740 79247 699 5.29 3 Nucleoplasm;Cytosol;Secreted 3MC syndrome 1 0 PE1 -NX_P48741 40244 367 7.72 1 NA NA 0 PE5 -NX_P48742 44808 406 7.86 17 Nucleus NA 0 PE1 -NX_P48745 39162 357 8.12 8 Cytoplasmic vesicle;Cytoplasm;Gap junction;Secreted NA 0 PE1 -NX_P48751 135791 1232 6.01 2 Nucleoplasm;Membrane NA 10 PE1 -NX_P48764 92855 834 7.05 5 Apical cell membrane;Cell membrane Diarrhea 8, secretory sodium, congenital 10 PE1 -NX_P48775 47872 406 6.46 4 Cytosol;Cell membrane Hypertryptophanemia 0 PE1 -NX_P48788 21339 182 8.87 11 Cytoskeleton;Cell membrane Arthrogryposis, distal, 2B 0 PE1 -NX_P48960 91869 835 6.5 19 Cytosol;Extracellular space;Cell membrane NA 7 PE1 -NX_P48995 91212 793 8.33 3 Cytoplasmic vesicle;Membrane NA 6 PE1 -NX_P49005 51289 469 5.35 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_P49006 19529 195 4.68 1 Cytosol;Nucleoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_P49019 44478 387 9.09 12 Cell membrane NA 7 PE1 -NX_P49023 64505 591 5.8 12 Cytosol;Cytoskeleton;Focal adhesion;Cell cortex;Centrosome NA 0 PE1 -NX_P49069 32953 296 8.2 5 Cytoplasmic vesicle;Nucleolus;Nucleus;Membrane NA 2 PE1 -NX_P49116 65414 596 5.89 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_P49137 45568 400 8.87 1 Nucleoplasm;Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_P49146 42731 381 6.79 4 Cell membrane NA 7 PE1 -NX_P49184 33893 302 5.45 X Endoplasmic reticulum NA 0 PE1 -NX_P49189 53802 494 5.69 1 Cytosol;Cytoplasm NA 0 PE1 -NX_P49190 62236 550 6.65 2 Cell membrane NA 7 PE1 -NX_P49207 13293 117 11.48 4 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_P49221 77145 684 6.31 3 NA NA 0 PE1 -NX_P49223 10252 89 6.21 20 Secreted NA 0 PE1 -NX_P49238 40396 355 6.74 3 Nucleus;Cell membrane Macular degeneration, age-related, 12 7 PE1 -NX_P49247 33269 311 8.78 2 NA Ribose 5-phosphate isomerase deficiency 0 PE1 -NX_P49257 57549 510 6.3 18 Cytosol;Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane Factor V and factor VIII combined deficiency 1 1 PE1 -NX_P49279 59872 550 7.58 2 Membrane NA 12 PE1 -NX_P49281 62266 568 5.72 12 Endosome membrane;Mitochondrion;Mitochondrion outer membrane;Cell membrane;Early endosome Anemia, hypochromic microcytic, with iron overload 1 12 PE1 -NX_P49286 40188 362 9.12 11 Cell membrane NA 7 PE1 -NX_P49321 85238 788 4.26 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P49326 60221 533 8.41 1 Endoplasmic reticulum membrane;Microsome membrane;Cytosol;Endoplasmic reticulum NA 1 PE1 -NX_P49327 273427 2511 6.01 17 Cytosol;Cytoplasm;Melanosome;Cell membrane NA 0 PE1 -NX_P49335 39427 361 7.07 X Nucleus Deafness, X-linked, 2 0 PE1 -NX_P49336 53284 464 8.72 13 Nucleus NA 0 PE1 -NX_P49354 44409 379 4.96 8 Cytosol NA 0 PE1 -NX_P49356 48774 437 5.51 14 Centrosome NA 0 PE1 -NX_P49366 40971 369 5.22 19 Nucleoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_P49368 60534 545 6.1 1 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_P49406 33535 292 9.55 2 Mitochondrion NA 0 PE1 -NX_P49407 47066 418 5.84 11 Pseudopodium;Nucleoplasm;Cytoplasm;Clathrin-coated pit;Cell membrane;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P49411 49542 452 7.26 16 Mitochondrion Combined oxidative phosphorylation deficiency 4 0 PE1 -NX_P49418 76257 695 4.58 7 Cytosol;Synaptic vesicle membrane;Cytoskeleton;Cell membrane NA 0 PE1 -NX_P49419 58487 539 8.21 5 Cytosol;Mitochondrion;Nucleus Pyridoxine-dependent epilepsy 0 PE1 -NX_P49427 26737 236 4.41 19 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_P49441 43998 399 5.15 2 Cytoplasmic vesicle NA 0 PE1 -NX_P49447 27559 251 8.73 17 Membrane NA 6 PE1 -NX_P49448 61434 558 8.63 X Mitochondrion matrix NA 0 PE1 -NX_P49450 15991 140 11.71 2 Nucleoplasm;Kinetochore;Centromere;Nucleus NA 0 PE1 -NX_P49454 367764 3210 5.03 1 Kinetochore;Nucleoplasm;Perinuclear region;Nucleus matrix;Spindle Stromme syndrome 0 PE1 -NX_P49458 10112 86 7.76 1 Cytoplasm NA 0 PE1 -NX_P49459 17315 152 5.06 X NA Mental retardation, X-linked, syndromic, Nascimento-type 0 PE1 -NX_P49585 41731 367 6.82 3 Cytosol;Nucleus;Membrane Spondylometaphyseal dysplasia with cone-rod dystrophy 0 PE1 -NX_P49588 106810 968 5.34 16 Cytosol;Cytoplasm Charcot-Marie-Tooth disease 2N;Epileptic encephalopathy, early infantile, 29 0 PE1 -NX_P49589 85473 748 6.31 11 Cytosol;Cytoplasm NA 0 PE1 -NX_P49590 56888 506 8.53 5 Mitochondrion matrix;Cytosol Perrault syndrome 2 0 PE1 -NX_P49591 58777 514 6.05 1 Cytosol;Cytoplasm;Nucleus Neurodevelopmental disorder with microcephaly, ataxia, and seizures 0 PE1 -NX_P49593 49831 454 4.99 22 Nucleoplasm;Cell membrane NA 0 PE1 -NX_P49619 89124 791 6.36 3 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Membrane NA 0 PE1 -NX_P49638 31750 278 7.17 8 Cytoplasm Ataxia with isolated vitamin E deficiency 0 PE1 -NX_P49639 36641 335 8.13 7 Nucleus Bosley-Salih-Alorainy syndrome;Athabaskan brainstem dysgenesis syndrome 0 PE1 -NX_P49640 42440 407 6.41 7 Nucleoplasm;Nucleus NA 0 PE2 -NX_P49641 130539 1150 6.35 15 Cytosol;Golgi apparatus membrane NA 1 PE1 -NX_P49642 49902 420 8.39 12 Cytoplasmic vesicle NA 0 PE1 -NX_P49643 58806 509 7.97 6 Nucleoplasm NA 0 PE1 -NX_P49662 43262 377 5.69 11 Endoplasmic reticulum membrane;Secreted;Cytosol;Inflammasome;Cell membrane;Mitochondrion NA 0 PE1 -NX_P49674 47315 416 9.68 22 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P49675 31914 285 9.17 8 Mitochondrion Adrenal hyperplasia 1 0 PE1 -NX_P49682 40660 368 7.92 X Cell membrane NA 7 PE1 -NX_P49683 41121 370 9.43 10 Cell membrane NA 7 PE1 -NX_P49685 40787 360 9.01 3 Cell membrane NA 7 PE1 -NX_P49703 22156 201 9.94 17 Nucleolus;Golgi apparatus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P49711 82785 727 6.51 16 Nucleoplasm;Centromere;Chromosome Mental retardation, autosomal dominant 21 0 PE1 -NX_P49715 37561 358 7.27 19 Cytoplasmic vesicle;Nucleoplasm;Nucleolus;Nucleus Leukemia, acute myelogenous 0 PE1 -NX_P49716 28467 269 8.44 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_P49720 22949 205 6.14 17 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 -NX_P49721 22836 201 6.52 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P49736 101896 904 5.34 3 Nucleoplasm;Nucleus Deafness, autosomal dominant, 70 0 PE1 -NX_P49746 104201 956 4.43 1 Cytoplasmic vesicle NA 0 PE1 -NX_P49747 82860 757 4.36 19 Golgi apparatus;Extracellular matrix Pseudoachondroplasia;Multiple epiphyseal dysplasia 1 0 PE1 -NX_P49748 70390 655 8.92 17 Mitochondrion;Mitochondrion inner membrane;Nucleolus;Nucleus Acyl-CoA dehydrogenase very long-chain deficiency 0 PE1 -NX_P49750 241645 2146 6.12 14 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_P49753 53218 483 8.7 14 Mitochondrion NA 0 PE1 -NX_P49754 98566 854 5.56 7 Late endosome;Lysosome;Endosome membrane;trans-Golgi network;Early endosome;Clathrin-coated vesicle NA 0 PE1 -NX_P49755 24976 219 6.98 14 Endoplasmic reticulum membrane;trans-Golgi network membrane;Golgi apparatus;Cell membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Melanosome;Secretory vesicle membrane NA 1 PE1 -NX_P49756 100185 843 6.06 14 Cytoplasm;Nucleus speckle NA 0 PE1 -NX_P49757 70804 651 8.79 14 Cytosol;Cell junction;Membrane NA 0 PE1 -NX_P49758 54423 472 7.05 14 Cytosol;Cytoplasm;Nucleus;Cell membrane;Membrane NA 0 PE1 -NX_P49759 57291 484 9.05 2 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_P49760 60090 499 9.69 1 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_P49761 73515 638 9.94 15 Nucleus speckle;Acrosome;Nucleoplasm;Cytoplasm;Nucleus;Cytoskeleton NA 0 PE1 -NX_P49763 24789 221 8.52 14 Mitochondrion;Cytosol;Nucleoplasm;Secreted NA 0 PE1 -NX_P49765 21602 207 8.46 11 Secreted NA 0 PE1 -NX_P49767 46883 419 7.77 4 Secreted Lymphedema, hereditary, 1D 0 PE1 -NX_P49768 52668 467 5.18 14 Endoplasmic reticulum membrane;Golgi apparatus;Cell membrane;Cytoplasmic granule;Nucleus;Golgi apparatus membrane;Cell junction Frontotemporal dementia;Acne inversa, familial, 3;Cardiomyopathy, dilated 1U;Alzheimer disease 3 9 PE1 -NX_P49770 38990 351 5.77 14 Nucleoplasm;Focal adhesion;Cell membrane Leukodystrophy with vanishing white matter 0 PE1 -NX_P49771 26416 235 7.6 19 Cell membrane;Secreted NA 1 PE1 -NX_P49773 13802 126 6.43 5 Cytosol;Cytoplasm;Nucleus;Cell membrane Neuromyotonia and axonal neuropathy, autosomal recessive 0 PE1 -NX_P49788 33285 294 8.74 3 Endoplasmic reticulum;Golgi apparatus;Membrane NA 1 PE1 -NX_P49789 16858 147 6.54 3 Mitochondrion;Cytoplasm;Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_P49790 153938 1475 8.97 6 Nuclear pore complex;Nucleus;Nucleus membrane NA 0 PE1 -NX_P49792 358199 3224 5.86 2 Nuclear pore complex;Nucleus;Nucleus envelope;Nucleus membrane Encephalopathy, acute, infection-induced, 3 0 PE1 -NX_P49795 24636 217 5.43 20 Nucleolus;Cell junction;Membrane NA 0 PE1 -NX_P49796 132336 1198 5.9 9 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Mitochondrion NA 0 PE1 -NX_P49798 23256 205 8.69 1 Cytoskeleton Schizophrenia 0 PE1 -NX_P49802 57668 495 8.33 1 Cytosol;Cytoplasm;Cell membrane;Membrane NA 0 PE1 -NX_P49810 50140 448 4.51 1 Endoplasmic reticulum membrane;Golgi apparatus membrane Alzheimer disease 4;Cardiomyopathy, dilated 1V 8 PE1 -NX_P49815 200608 1807 6.98 16 Cytosol;Cytoplasm;Membrane Tuberous sclerosis 2;Focal cortical dysplasia 2;Lymphangioleiomyomatosis 0 PE1 -NX_P49821 50817 464 8.51 11 Mitochondrion;Cytosol;Mitochondrion inner membrane Mitochondrial complex I deficiency;Leigh syndrome 0 PE1 -NX_P49840 50981 483 8.95 19 Cytosol NA 0 PE1 -NX_P49841 46744 420 8.98 3 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_P49842 40916 368 9.8 6 Nucleus speckle;Nucleus NA 0 PE1 -NX_P49848 72668 677 8.83 7 Cytosol;Nucleoplasm;Nucleus Alazami-Yuan syndrome 0 PE1 -NX_P49862 27525 253 8.82 19 Nucleus membrane;Cell membrane;Secreted NA 0 PE1 -NX_P49863 28882 264 9.48 5 Cytoplasmic granule;Secreted NA 0 PE1 -NX_P49888 35126 294 6.18 4 Cytosol;Cytoplasm;Nucleus membrane NA 0 PE1 -NX_P49895 28924 249 8.9 1 Endoplasmic reticulum membrane NA 1 PE1 -NX_P49901 12767 116 8.49 1 Cytoplasm;Mitochondrion membrane NA 0 PE1 -NX_P49902 64970 561 5.75 10 Cytoplasm Spastic paraplegia 45, autosomal recessive 0 PE1 -NX_P49903 42911 392 5.65 10 Nucleoplasm;Cytoplasm;Cell membrane;Nucleus membrane NA 0 PE1 -NX_P49908 43174 381 8.08 5 Nucleus;Golgi apparatus;Secreted NA 0 PE1 -NX_P49910 55771 485 6.74 6 Nucleus speckle;Cytoskeleton;Nucleus NA 0 PE1 -NX_P49913 19301 170 9.48 3 Secreted NA 0 PE1 -NX_P49914 23256 203 7.71 15 Cytosol;Cytoplasm NA 0 PE1 -NX_P49915 76715 693 6.42 3 Cytosol;Cytoplasm NA 0 PE1 -NX_P49916 112907 1009 9.17 17 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_P49917 103971 911 8.17 13 Nucleoplasm;Cytosol;Nucleus LIG4 syndrome;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation 0 PE1 -NX_P49918 32177 316 5.39 11 Cytosol;Nucleoplasm;Nucleus Beckwith-Wiedemann syndrome;Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 0 PE1 -NX_P49959 80593 708 5.61 11 Nucleoplasm;Nucleus;Chromosome;Telomere Ataxia-telangiectasia-like disorder 1 0 PE1 -NX_P49961 57965 510 5.93 10 Cytoskeleton;Membrane Spastic paraplegia 64, autosomal recessive 2 PE1 -NX_P50052 41184 363 9.31 X Cell membrane NA 7 PE1 -NX_P50053 32523 298 5.91 2 Cytosol Fructosuria 0 PE1 -NX_P50120 15707 134 5.27 3 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_P50135 33295 292 5.18 2 Cytoplasm Mental retardation, autosomal recessive 51 0 PE1 -NX_P50148 42142 359 5.48 9 Nucleus speckle;Nucleus membrane;Cytosol;Cell membrane;Nucleus;Membrane Sturge-Weber syndrome;Capillary malformations, congenital 0 PE1 -NX_P50150 8389 75 6.55 1 Cell membrane NA 0 PE1 -NX_P50151 7205 68 7.71 9 Cell membrane NA 0 PE1 -NX_P50213 39592 366 6.46 15 Mitochondrion NA 0 PE1 -NX_P50219 40569 401 7.27 7 Cytosol;Nucleolus;Nucleus Currarino syndrome 0 PE1 -NX_P50221 27997 254 7.79 17 Mitochondrion;Cytoplasm;Nucleolus;Nucleus Klippel-Feil syndrome 2, autosomal recessive 0 PE1 -NX_P50222 33594 304 7.87 7 Nucleus speckle;Nucleus NA 0 PE1 -NX_P50225 34165 295 6.16 16 Cytoplasm NA 0 PE1 -NX_P50226 34310 295 7.75 16 Cytoplasm NA 0 PE1 -NX_P50238 8533 77 9.05 14 Cytosol;Nucleus speckle;Centrosome NA 0 PE1 -NX_P50281 65894 582 7.63 14 Cytosol;Cytoplasm;Cytoskeleton;Melanosome;Membrane Winchester syndrome 1 PE1 -NX_P50336 50765 477 8.43 1 Cytosol;Mitochondrion;Mitochondrion inner membrane Variegate porphyria 0 PE1 -NX_P50391 42195 375 8.46 10 Cell membrane NA 7 PE2 -NX_P50395 50663 445 6.11 10 Cytoplasm;Membrane NA 0 PE1 -NX_P50402 28994 254 5.29 X Endoplasmic reticulum;Nucleus inner membrane;Nucleus envelope;Nucleus membrane;Nucleus outer membrane Emery-Dreifuss muscular dystrophy 1, X-linked 1 PE1 -NX_P50406 46954 440 9.27 1 Cell membrane NA 7 PE1 -NX_P50416 88368 773 8.85 11 Mitochondrion;Mitochondrion outer membrane Carnitine palmitoyltransferase 1A deficiency 2 PE1 -NX_P50440 48455 423 8.26 15 Mitochondrion;Cytoplasm;Mitochondrion inner membrane Cerebral creatine deficiency syndrome 3 0 PE1 -NX_P50443 81662 739 8.67 5 Cytoplasmic vesicle;Cell membrane Achondrogenesis 1B;Multiple epiphyseal dysplasia 4;Atelosteogenesis 2;Diastrophic dysplasia 8 PE1 -NX_P50452 42767 374 5.41 18 Cytosol;Cytoplasm;Nucleus Peeling skin syndrome 5 0 PE1 -NX_P50453 42404 376 5.61 6 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P50454 46441 418 8.75 11 Endoplasmic reticulum lumen;Endoplasmic reticulum Osteogenesis imperfecta 10 0 PE1 -NX_P50458 44373 406 8.81 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_P50461 20969 194 8.89 11 Sarcomere;Cytoplasm;Cytoskeleton;Nucleus;Z line Cardiomyopathy, familial hypertrophic 12;Cardiomyopathy, dilated 1M 0 PE1 -NX_P50479 35398 330 8.07 5 Synaptosome;Cytosol;Cytoplasm;Early endosome membrane;Perinuclear region;Nucleus;Dendritic spine;Lamellipodium;Cytoskeleton;Recycling endosome membrane NA 0 PE1 -NX_P50502 41332 369 5.18 22 Cytoplasm NA 0 PE1 -NX_P50539 26062 228 6.57 10 Nucleolus;Nucleus Prostate cancer 0 PE1 -NX_P50542 70865 639 4.43 12 Cytosol;Cytoplasm;Peroxisome membrane;Golgi apparatus Peroxisome biogenesis disorder 2A;Peroxisome biogenesis disorder 2B;Rhizomelic chondrodysplasia punctata 5 0 PE1 -NX_P50548 58703 548 6.85 19 Nucleoplasm;Nucleus Chitayat syndrome;Craniosynostosis 4 0 PE1 -NX_P50549 55131 477 5.7 7 Nucleoplasm;Nucleus Ewing sarcoma 0 PE1 -NX_P50552 39830 380 9.05 19 Cytoplasm;Cell membrane;Focal adhesion;Lamellipodium membrane;Filopodium membrane;Cytoskeleton;Cell junction;Tight junction NA 0 PE1 -NX_P50553 25454 236 8.93 12 Nucleus NA 0 PE1 -NX_P50570 98064 870 7.04 19 Synapse;Phagocytic cup;Golgi apparatus;Cytosol;Cytoplasm;Clathrin-coated pit;Cell junction;Phagosome membrane;Postsynaptic density;Cytoskeleton;Midbody Lethal congenital contracture syndrome 5;Charcot-Marie-Tooth disease 2M;Charcot-Marie-Tooth disease, dominant, intermediate type, B;Myopathy, centronuclear, 1 0 PE1 -NX_P50579 52892 478 5.57 12 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_P50583 16829 147 5.23 9 Nucleoplasm NA 0 PE1 -NX_P50591 32509 281 7.01 3 Cytoskeleton;Cell membrane;Secreted NA 1 PE1 -NX_P50607 55651 506 8.88 11 Nucleolus;Secreted;Cytoplasm;Cell membrane;Microtubule organizing center;Nucleus;Centrosome Retinal dystrophy and obesity 0 PE1 -NX_P50613 39038 346 8.66 5 Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 -NX_P50616 38155 345 6.45 17 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P50747 80760 726 5.4 21 Mitochondrion;Cytoplasm;Cytosol Holocarboxylase synthetase deficiency 0 PE1 -NX_P50748 250749 2209 5.67 12 Kinetochore;Cytosol;Cytoplasm;Cell membrane;Nucleus;Spindle NA 0 PE1 -NX_P50749 37790 326 8.93 20 Kinetochore;Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus NA 0 PE1 -NX_P50750 42778 372 8.97 9 Nucleoplasm;PML body;Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_P50851 319108 2863 5.39 4 Golgi apparatus;Lysosome;Cytosol;Endoplasmic reticulum;Cell membrane;trans-Golgi network Immunodeficiency, common variable, 8, with autoimmunity 1 PE1 -NX_P50876 32890 292 5.91 2 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Cell membrane NA 1 PE1 -NX_P50895 67405 628 5.53 19 Nucleolus;Membrane NA 1 PE1 -NX_P50897 34193 306 6.07 1 Secreted;Lysosome Ceroid lipofuscinosis, neuronal, 1 0 PE1 -NX_P50914 23432 215 10.94 3 Cytoplasm NA 0 PE1 -NX_P50990 59621 548 5.42 21 Cytosol;Cytoplasm;Nucleus;Cytoskeleton;Centrosome;Cilium basal body NA 0 PE1 -NX_P50991 57924 539 7.96 2 Melanosome;Cytosol;Cytoplasm;Nucleoplasm;Centrosome;Cilium basal body NA 0 PE1 -NX_P50993 112265 1020 5.47 1 Cell membrane;Membrane Alternating hemiplegia of childhood 1;Migraine, familial hemiplegic, 2 10 PE1 -NX_P50995 54390 505 7.53 10 Melanosome;Nucleoplasm;Cytoplasm;Nucleus envelope;Cytosol;Spindle Amyotrophic lateral sclerosis 23 0 PE1 -NX_P51003 82843 745 6.96 14 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P51114 69721 621 5.84 3 Cytosol;Cytoplasm NA 0 PE1 -NX_P51116 74223 673 5.95 17 Cytosol;Cytoplasm NA 0 PE1 -NX_P51124 27545 257 10.16 19 Cytoplasmic granule;Secreted NA 0 PE1 -NX_P51148 23483 216 8.64 17 Endosome;Early endosome membrane;Melanosome;Cell membrane NA 0 PE1 -NX_P51149 23490 207 6.39 3 Autophagosome membrane;Lysosome membrane;Lysosome;Lipid droplet;Endosome membrane;Late endosome membrane;Melanosome membrane;Phagosome membrane Charcot-Marie-Tooth disease 2B 0 PE1 -NX_P51151 22838 201 5.26 X Endoplasmic reticulum membrane;Late endosome;Melanosome;Cytosol;Cell membrane;Nucleoplasm;Golgi apparatus membrane;Phagosome;Phagosome membrane;Cytoplasmic vesicle membrane NA 0 PE1 -NX_P51153 22774 203 9.27 1 trans-Golgi network membrane;Cytosol;Cell membrane;Lamellipodium;Cytoplasmic vesicle membrane;Recycling endosome membrane;Tight junction NA 0 PE1 -NX_P51157 24841 221 5.7 4 Cell membrane;Cilium basal body Cone-rod dystrophy 18 0 PE1 -NX_P51159 24868 221 5.09 15 Lysosome;Melanosome;Late endosome;Membrane Griscelli syndrome 2 0 PE1 -NX_P51160 99147 858 5.5 10 Cell membrane Achromatopsia 5;Cone dystrophy 4 0 PE1 -NX_P51161 14371 128 6.29 5 Cytoplasm;Membrane NA 0 PE1 -NX_P51164 33367 291 6.98 13 Cell membrane NA 1 PE1 -NX_P51168 72659 640 5.89 16 Cytoplasmic vesicle membrane;Apical cell membrane Pseudohypoaldosteronism 1, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 1;Liddle syndrome 2 PE1 -NX_P51170 74270 649 7.47 16 Nucleoplasm;Apical cell membrane;Cell membrane Liddle syndrome;Bronchiectasis with or without elevated sweat chloride 3 2 PE1 -NX_P51172 70215 638 8.06 1 Cytoskeleton;Cell membrane NA 2 PE1 -NX_P51178 85665 756 6.23 3 Cytoskeleton Nail disorder, non-syndromic congenital, 3 0 PE1 -NX_P51397 11165 102 9.3 5 Cytoplasm NA 0 PE1 -NX_P51398 45566 398 9.02 1 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_P51449 58195 518 8.88 1 Nucleus Immunodeficiency 42 0 PE1 -NX_P51451 57706 505 7.98 8 Nucleoplasm;Cell membrane Maturity-onset diabetes of the young 11 0 PE1 -NX_P51452 20478 185 7.66 17 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P51460 14502 131 9.18 19 Secreted Cryptorchidism 0 PE1 -NX_P51504 31224 273 9.04 3 Nucleus NA 0 PE2 -NX_P51508 75960 661 8.96 X Nucleus NA 0 PE1 -NX_P51511 75807 669 7.03 16 Nucleoplasm;Cytosol;Cell membrane;Membrane NA 1 PE1 -NX_P51512 69521 607 8.72 8 Cytosol;Cell surface;Cytoplasmic vesicle;Cell membrane;Extracellular matrix NA 1 PE1 -NX_P51513 52056 510 8.93 14 Nucleolus;Nucleus NA 0 PE1 -NX_P51522 59710 516 9.38 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_P51523 85457 738 9.05 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_P51530 120415 1060 7.95 10 Mitochondrion;Nucleus Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6;Seckel syndrome 8 0 PE1 -NX_P51531 181279 1590 6.76 9 Nucleoplasm;Cytoplasmic vesicle;Cytoskeleton;Nucleus Schizophrenia;Nicolaides-Baraitser syndrome 0 PE1 -NX_P51532 184646 1647 7.83 19 Nucleoplasm;Nucleus Coffin-Siris syndrome 4;Rhabdoid tumor predisposition syndrome 2 0 PE1 -NX_P51553 42794 393 8.75 X Mitochondrion NA 0 PE1 -NX_P51570 42272 392 6.04 17 Cytosol;Golgi apparatus Galactosemia II 0 PE1 -NX_P51571 18999 173 5.76 X Endoplasmic reticulum membrane Congenital disorder of glycosylation 1Y 1 PE1 -NX_P51572 27992 246 8.44 X Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum Deafness, dystonia, and cerebral hypomyelination 3 PE1 -NX_P51575 44980 399 8.75 17 Membrane NA 2 PE1 -NX_P51580 28180 245 5.85 6 Cytoplasm NA 0 PE1 -NX_P51582 40963 365 8.92 X Cell membrane NA 7 PE1 -NX_P51587 384202 3418 6.29 13 Nucleoplasm;Cytosol;Nucleus;Centrosome Glioma 3;Pancreatic cancer 2;Breast cancer;Fanconi anemia complementation group D1;Breast-ovarian cancer, familial, 2 0 PE1 -NX_P51589 57611 502 8.76 1 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P51606 48831 427 5.95 X Cytoplasm;Nucleus NA 0 PE1 -NX_P51608 52441 486 9.95 X Nucleus Mental retardation, X-linked, syndromic, 13;Encephalopathy, neonatal severe, due to MECP2 mutations;Angelman syndrome;Autism, X-linked 3;Mental retardation, X-linked, syndromic, Lubs type;Rett syndrome 0 PE1 -NX_P51610 208732 2035 7.32 X Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus Mental retardation, X-linked 3 0 PE1 -NX_P51617 76537 712 6.18 X Mitochondrion;Cytoplasm;Lipid droplet;Nucleus;Cytosol NA 0 PE1 -NX_P51636 18291 162 5.06 7 Golgi apparatus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Caveola;Golgi apparatus membrane NA 0 PE1 -NX_P51648 54848 485 7.98 17 Endoplasmic reticulum membrane;Microsome membrane Sjoegren-Larsson syndrome 1 PE1 -NX_P51649 57215 535 8.62 6 Mitochondrion Succinic semialdehyde dehydrogenase deficiency 0 PE1 -NX_P51654 65563 580 5.96 X Cell membrane Simpson-Golabi-Behmel syndrome 1 0 PE1 -NX_P51659 79686 736 8.96 5 Peroxisome D-bifunctional protein deficiency;Perrault syndrome 1 0 PE1 -NX_P51665 37025 324 6.29 16 Nucleoplasm NA 0 PE1 -NX_P51668 16602 147 6.94 10 Cytoplasm NA 0 PE1 -NX_P51671 10732 97 9.98 17 Secreted NA 0 PE1 -NX_P51674 31210 278 5.17 4 Axon;Filopodium;Dendritic spine;Cell membrane NA 4 PE1 -NX_P51677 41044 355 8.49 3 Cell membrane NA 7 PE1 -NX_P51679 41403 360 7.47 3 Cell membrane NA 7 PE1 -NX_P51681 40524 352 9.21 3 Cell membrane Diabetes mellitus, insulin-dependent, 22 7 PE1 -NX_P51684 42494 374 9.23 6 Cell surface;Cell membrane NA 7 PE1 -NX_P51685 40844 355 8.66 3 Cell membrane NA 7 PE1 -NX_P51686 42016 369 8.54 3 Cell membrane NA 7 PE1 -NX_P51687 60283 545 5.72 12 Mitochondrion intermembrane space Sulfite oxidase deficiency, isolated 0 PE1 -NX_P51688 56695 502 6.46 17 Lysosome Mucopolysaccharidosis 3A 0 PE1 -NX_P51689 64860 593 6.78 X Cytoplasmic vesicle;Lipid droplet;Lysosome NA 0 PE1 -NX_P51690 65669 589 6.48 X Golgi stack;Golgi apparatus Chondrodysplasia punctata 1, X-linked recessive 0 PE1 -NX_P51692 89866 787 5.71 17 Cytoplasm;Nucleus Growth hormone insensitivity with immunodeficiency 0 PE1 -NX_P51693 72176 650 5.54 19 Cytoplasm;Cell membrane NA 1 PE1 -NX_P51784 109817 963 5.28 X Nucleoplasm;Cytoplasm;Nucleus;Chromosome NA 0 PE1 -NX_P51786 58291 506 8.83 X Nucleus NA 0 PE1 -NX_P51787 74699 676 9.88 11 Basolateral cell membrane;Cell membrane;Endoplasmic reticulum;Early endosome;Cytoplasmic vesicle membrane;Membrane raft Jervell and Lange-Nielsen syndrome 1;Short QT syndrome 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Diabetes mellitus, non-insulin-dependent 6 PE1 -NX_P51788 98535 898 8.7 3 Cytosol;Cell membrane Epilepsy, idiopathic generalized 11;Juvenile myoclonic epilepsy 8;Juvenile absence epilepsy 2;Leukoencephalopathy with ataxia 10 PE1 -NX_P51790 90966 818 5.88 4 Cytosol;Early endosome membrane;Endoplasmic reticulum;Late endosome membrane;Golgi apparatus membrane;Secretory vesicle membrane NA 10 PE1 -NX_P51793 84917 760 6.43 X Endoplasmic reticulum membrane;Cytoplasmic vesicle;Early endosome membrane;Late endosome membrane Mental retardation, X-linked 49 10 PE1 -NX_P51795 83147 746 6.37 X Endosome membrane;Cytosol;Golgi apparatus membrane;Golgi apparatus;Cell membrane Nephrolithiasis 1;Nephrolithiasis 2;Hypophosphatemic rickets, X-linked recessive;Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis 10 PE1 -NX_P51797 97289 869 6.39 1 Cytosol;Endosome membrane;Cell membrane NA 10 PE1 -NX_P51798 88679 805 8.66 16 Nucleoplasm;Lysosome membrane Osteopetrosis, autosomal recessive 2;Osteopetrosis, autosomal recessive 4;Osteopetrosis, autosomal dominant 2 10 PE1 -NX_P51800 75285 687 7.62 1 Membrane Bartter syndrome 4B, neonatal, with sensorineural deafness 10 PE1 -NX_P51801 75446 687 8.2 1 Cell membrane Bartter syndrome 3;Bartter syndrome 4B, neonatal, with sensorineural deafness 11 PE1 -NX_P51805 207703 1871 7.06 X Cytoplasmic vesicle;Cell junction;Cell membrane NA 1 PE1 -NX_P51808 13062 116 5.37 X Kinetochore;Cytoskeleton;Nucleus NA 0 PE1 -NX_P51809 24935 220 8.86 X Endoplasmic reticulum membrane;Synaptosome;Lysosome membrane;trans-Golgi network membrane;Cytoplasmic vesicle;Late endosome membrane;Phagosome membrane;Secretory vesicle membrane NA 1 PE1 -NX_P51810 43878 404 7.53 X Lysosome membrane;Apical cell membrane;Melanosome membrane Albinism ocular 1;Nystagmus congenital X-linked 6 7 PE1 -NX_P51811 50902 444 8.6 X Mitochondrion;Nucleoplasm;Cytoplasmic vesicle;Membrane McLeod syndrome 10 PE1 -NX_P51812 83736 740 6.41 X Cytosol;Cytoplasm;Nucleolus;Nucleus Mental retardation, X-linked 19;Coffin-Lowry syndrome 0 PE1 -NX_P51813 78011 675 8.7 X Nucleoplasm;Cytoplasm;Cell membrane NA 0 PE1 -NX_P51814 93728 821 9.06 X Nucleoplasm;Nucleus NA 0 PE1 -NX_P51815 59298 510 9.35 X Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE2 -NX_P51816 144771 1311 8.23 X Nucleus speckle Mental retardation, X-linked, associated with fragile site FRAXE 0 PE1 -NX_P51817 40896 358 6.37 X Cytoplasm;Nucleus NA 0 PE1 -NX_P51825 131422 1210 9.26 4 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_P51826 133503 1226 8.35 2 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_P51828 120308 1080 8.49 16 Cytosol;Membrane NA 12 PE1 -NX_P51841 124850 1108 6.87 X Membrane NA 1 PE1 -NX_P51843 51718 470 8.47 X Cytoplasmic vesicle;Nucleus speckle;Cytoplasm;Nucleus;Microtubule organizing center 46,XY sex reversal 2;Adrenal hypoplasia, congenital 0 PE1 -NX_P51854 65333 596 5.56 X Cytoplasm;Nucleus NA 0 PE1 -NX_P51857 37377 326 7.14 7 Nucleoplasm;Cytosol;Cytoplasm Congenital bile acid synthesis defect 2 0 PE1 -NX_P51858 26788 240 4.7 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P51861 31279 262 4.35 X Nucleoplasm;Centrosome;Golgi apparatus NA 0 PE1 -NX_P51864 21181 188 8.2 X Cell membrane NA 0 PE5 -NX_P51878 49736 434 9.28 11 NA NA 0 PE1 -NX_P51884 38429 338 6.16 12 Extracellular matrix NA 0 PE1 -NX_P51888 43810 382 9.47 1 Extracellular matrix NA 0 PE1 -NX_P51911 33170 297 9.14 19 Cytoskeleton NA 0 PE1 -NX_P51946 37643 323 6.73 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_P51948 35823 309 5.79 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_P51955 51763 445 9.03 1 Kinetochore;Nucleolus;Cytoplasm;Spindle pole;Nucleus;Centromere;Centrosome Retinitis pigmentosa 67 0 PE1 -NX_P51956 57705 506 6.72 13 Axon;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_P51957 94597 841 8.04 3 Cytosol;Cytoplasm;Cilium NA 0 PE1 -NX_P51959 34074 295 9.06 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_P51965 21404 193 8.77 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_P51970 20105 172 7.58 9 Mitochondrion;Mitochondrion inner membrane;Mitochondrion intermembrane space NA 0 PE1 -NX_P51991 39595 378 9.1 2 Nucleus NA 0 PE1 -NX_P51993 41860 359 8.92 19 Golgi stack membrane;Golgi apparatus NA 1 PE1 -NX_P52179 187627 1685 6.5 18 M line NA 0 PE1 -NX_P52198 25369 227 8.66 17 Acrosome membrane NA 0 PE1 -NX_P52209 53140 483 6.8 1 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_P52272 77516 730 8.84 19 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P52292 57862 529 5.25 17 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_P52294 60222 538 4.94 3 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P52298 18001 156 8.34 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P52306 66317 607 5.17 4 Cytosol NA 0 PE1 -NX_P52333 125099 1124 6.77 19 Cytoplasm;Endomembrane system Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative 0 PE1 -NX_P52429 63927 567 8.02 17 Cytosol;Cytoplasm;Nucleus;Membrane Hemolytic uremic syndrome atypical 7;Nephrotic syndrome 7 2 PE1 -NX_P52434 17143 150 4.5 3 Nucleolus;Nucleus NA 0 PE1 -NX_P52435 13293 117 5.63 7 Nucleus NA 0 PE1 -NX_P52564 37492 334 7.01 17 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_P52565 23207 204 5.03 17 Cytosol;Cytoplasm Nephrotic syndrome 8 0 PE1 -NX_P52566 22988 201 5.1 12 Cytosol NA 0 PE1 -NX_P52569 71673 658 7.01 8 Cell junction;Cell membrane NA 14 PE1 -NX_P52594 58260 562 8.82 2 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P52597 45672 415 5.38 10 Nucleoplasm NA 0 PE1 -NX_P52630 97916 851 5.34 12 Cytosol;Cytoplasm;Nucleus;Cell membrane Immunodeficiency 44 0 PE1 -NX_P52655 41514 376 4.4 14 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P52657 12457 109 6.26 15 Nucleoplasm;Nucleus NA 0 PE1 -NX_P52701 152786 1360 6.5 2 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Golgi apparatus;Chromosome Endometrial cancer;Hereditary non-polyposis colorectal cancer 5;Colorectal cancer;Mismatch repair cancer syndrome 0 PE1 -NX_P52732 119159 1056 5.47 10 Cytosol;Cytoplasm;Spindle;Spindle pole Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 0 PE1 -NX_P52735 101289 878 6.67 9 Cytoplasmic vesicle NA 0 PE1 -NX_P52736 73388 654 9.26 20 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P52737 62784 540 9.32 19 Nucleolus;Nucleus NA 0 PE1 -NX_P52738 52996 457 8.95 12 Nucleus NA 0 PE1 -NX_P52739 71422 623 5.1 5 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_P52740 80623 706 8.77 19 Cytoplasmic vesicle;Cytoskeleton;Nucleus NA 0 PE1 -NX_P52741 48480 427 8.96 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_P52742 75261 658 8.49 19 Cytosol;Nucleus NA 0 PE1 -NX_P52743 24115 207 9.77 19 Nucleus NA 0 PE5 -NX_P52744 30592 262 9.63 7 Cytosol;Nucleus NA 0 PE1 -NX_P52746 187880 1687 8.24 2 Nucleolus;Nucleus NA 0 PE1 -NX_P52747 68896 638 5.64 11 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P52756 92154 815 5.94 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_P52757 53924 468 7.04 7 Nucleus;Membrane NA 0 PE1 -NX_P52758 14494 137 8.73 8 Mitochondrion;Cytoplasm;Nucleus;Peroxisome NA 0 PE1 -NX_P52788 41268 366 4.87 X Cytosol;Cytoplasm;Nucleus X-linked syndromic mental retardation Snyder-Robinson type 0 PE1 -NX_P52789 102380 917 5.71 2 Mitochondrion;Mitochondrion outer membrane NA 0 PE1 -NX_P52790 99025 923 5.23 5 NA NA 0 PE1 -NX_P52797 26350 238 8.85 1 Cell membrane NA 0 PE1 -NX_P52798 22386 201 6.89 1 Cytoplasmic vesicle;Nucleus;Cell membrane;Secreted NA 0 PE1 -NX_P52799 36923 333 9.04 13 Cytosol;Nucleoplasm;Cell membrane NA 1 PE1 -NX_P52803 26297 228 5.97 5 Caveola;Cytoplasmic vesicle;Cytosol;Cell membrane NA 0 PE1 -NX_P52815 21348 198 9.05 17 Mitochondrion NA 0 PE1 -NX_P52823 27621 247 8.28 8 Secreted NA 0 PE1 -NX_P52824 101155 942 7.35 4 Nucleus speckle;Cytoskeleton;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 -NX_P52848 100868 882 8.07 5 Golgi apparatus membrane Mental retardation, autosomal recessive 46 1 PE1 -NX_P52849 100875 883 8.81 10 Cytosol;Golgi apparatus membrane NA 1 PE1 -NX_P52888 78840 689 5.72 19 Cytosol;Cytoplasm NA 0 PE1 -NX_P52895 36735 323 7.13 10 Cytoplasm 46,XY sex reversal 8 0 PE1 -NX_P52907 32923 286 5.45 1 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_P52926 11832 109 10.63 12 Nucleolus;Nucleus NA 0 PE1 -NX_P52943 22493 208 9.01 14 Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_P52945 30771 283 7.1 13 Nucleoplasm;Cytosol;Nucleus Maturity-onset diabetes of the young 4;Pancreatic agenesis 1;Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_P52948 197579 1817 5.97 11 Cytoplasmic vesicle;Nucleoplasm;Nuclear pore complex;Nucleus membrane NA 0 PE1 -NX_P52951 37348 348 8.43 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_P52952 34918 324 9.46 5 Cytosol;Nucleoplasm;Nucleus Conotruncal heart malformations;Ventricular septal defect 3;Atrial septal defect 7, with or without atrioventricular conduction defects;Hypoplastic left heart syndrome 2;Tetralogy of Fallot;Hypothyroidism, congenital, non-goitrous, 5 0 PE1 -NX_P52954 30221 281 6.47 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_P52961 36335 327 8.53 11 Sarcoplasmic reticulum membrane NA 0 PE2 -NX_P53004 33428 296 6.06 7 Cytosol;Cytoplasm Hyperbiliverdinemia 0 PE1 -NX_P53007 34013 311 9.91 22 Mitochondrion inner membrane Combined D-2- and L-2-hydroxyglutaric aciduria 6 PE1 -NX_P53041 56879 499 5.88 19 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Cell membrane NA 0 PE1 -NX_P53350 68255 603 9.09 16 Kinetochore;Spindle;Nucleus;Centrosome;Midbody NA 0 PE1 -NX_P53355 160046 1430 6.37 9 Cytoplasm;Cytoskeleton;Centrosome NA 0 PE1 -NX_P53365 37856 341 5.72 11 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 -NX_P53367 41738 373 6.24 4 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 -NX_P53370 35679 316 8.15 4 Mitochondrion;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_P53384 34534 320 5.15 16 Cytosol;Cytoplasm;Microtubule organizing center;Centriole;Nucleus;Cilium axoneme;Cell projection;Centrosome;Cilium basal body NA 0 PE1 -NX_P53396 120839 1101 6.95 17 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_P53420 164038 1690 8.9 2 Basement membrane Hematuria, benign familial;Alport syndrome, autosomal recessive 0 PE1 -NX_P53539 35928 338 4.78 19 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P53567 16408 150 9.77 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_P53582 43215 386 6.75 4 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_P53597 36250 346 9.01 2 Mitochondrion;Cell membrane Mitochondrial DNA depletion syndrome 9 0 PE1 -NX_P53602 43405 400 6.8 16 Cytosol;Cell junction Porokeratosis 7, multiple types 0 PE1 -NX_P53609 42368 377 6.37 5 Nucleoplasm;Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P53611 36924 331 4.89 1 Cytoplasmic vesicle NA 0 PE1 -NX_P53618 107142 953 5.72 11 Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;COPI-coated vesicle membrane;Golgi apparatus membrane NA 0 PE1 -NX_P53621 138346 1224 7.7 1 Cytosol;Golgi apparatus;Secreted;COPI-coated vesicle membrane;Cytoplasm;Nucleoplasm;Golgi apparatus membrane Autoimmune interstitial lung, joint, and kidney disease 0 PE1 -NX_P53634 51854 463 6.53 11 Cytoplasmic vesicle;Endoplasmic reticulum;Lysosome Papillon-Lefevre syndrome;Haim-Munk syndrome;Periodontititis, aggressive, 1 0 PE1 -NX_P53667 72585 647 6.53 7 Cytosol;Nucleus speckle;Lamellipodium;Nucleus;Cytoplasm NA 0 PE1 -NX_P53671 72232 638 6.83 22 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Nucleoplasm NA 0 PE1 -NX_P53672 22096 197 5.94 2 NA Cataract 42 0 PE1 -NX_P53673 22374 196 5.83 22 NA Cataract 23, multiple types 0 PE1 -NX_P53674 28023 252 8.59 22 NA Cataract 17, multiple types 0 PE1 -NX_P53675 187030 1640 5.57 22 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Coated pit NA 0 PE1 -NX_P53677 46977 418 7.15 8 Cytoplasmic vesicle membrane;Golgi apparatus NA 0 PE1 -NX_P53680 17018 142 5.82 19 Coated pit;Cell membrane Hypocalciuric hypercalcemia, familial 3 0 PE1 -NX_P53701 30602 268 6.25 X Mitochondrion;Mitochondrion inner membrane;Membrane Linear skin defects with multiple congenital anomalies 1 0 PE1 -NX_P53708 117474 1063 5.37 10 Cell membrane;Membrane Renal hypodysplasia/aplasia 1 1 PE1 -NX_P53778 41940 367 5.98 22 Mitochondrion;Cytoplasm;Nucleus;Cytosol;Nucleus speckle NA 0 PE1 -NX_P53779 52585 464 6.33 4 Mitochondrion;Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_P53794 79694 718 7.01 21 Cytosol;Cell membrane;Membrane NA 12 PE1 -NX_P53801 20324 180 9.14 21 Golgi apparatus;Nucleus membrane;Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;Membrane NA 1 PE1 -NX_P53803 7004 58 9.27 8 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_P53804 229869 2025 7.53 21 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P53805 28079 252 5.09 21 Cytosol NA 0 PE1 -NX_P53814 99059 917 9.2 22 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_P53816 17937 162 7.76 11 Cytoplasm;Perinuclear region;Peroxisome membrane;Membrane NA 1 PE1 -NX_P53985 53944 500 8.91 1 Cell junction;Cell membrane Symptomatic deficiency in lactate transport;Familial hyperinsulinemic hypoglycemia 7;Monocarboxylate transporter 1 deficiency 12 PE1 -NX_P53990 39751 364 5.22 16 Cytoplasmic vesicle;Centrosome;Nucleus envelope;Midbody NA 0 PE1 -NX_P53992 118325 1094 6.71 10 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Golgi apparatus;Cytosol;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_P53999 14395 127 9.6 5 Nucleolus;Nucleus NA 0 PE1 -NX_P54098 139562 1239 6.46 15 Mitochondrion nucleoid;Mitochondrion Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1;Spinocerebellar ataxia with epilepsy;Leigh syndrome;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1;Mitochondrial DNA depletion syndrome 4B;Mitochondrial DNA depletion syndrome 4A;Sensory ataxic neuropathy dysarthria and ophthalmoparesis 0 PE1 -NX_P54105 26215 237 3.97 11 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 -NX_P54107 28481 249 5.57 6 NA NA 0 PE1 -NX_P54108 27630 245 8.09 6 Secreted NA 0 PE1 -NX_P54132 159000 1417 7.33 15 Cytosol;Nucleus Bloom syndrome 0 PE1 -NX_P54136 75379 660 6.26 5 Nucleoplasm;Cytoplasm;Cytosol Leukodystrophy, hypomyelinating, 9 0 PE1 -NX_P54198 111835 1017 8.4 22 Nucleoplasm;PML body;Nucleus NA 0 PE1 -NX_P54219 56257 525 5.6 8 Endoplasmic reticulum membrane;Synaptic vesicle membrane;Cytoplasmic vesicle membrane NA 12 PE1 -NX_P54252 41250 361 4.69 14 Nucleus;Nucleolus;Nucleus matrix;Cell membrane Spinocerebellar ataxia 3 0 PE1 -NX_P54253 86923 815 8.49 6 Cytosol;Cytoplasm;Nucleolus;Nucleus Spinocerebellar ataxia 1 0 PE1 -NX_P54257 75506 671 4.68 17 Lysosome;Cytoplasm;Endoplasmic reticulum;Axon;Nucleus;Autophagosome;Mitochondrion;Cytoskeleton;Synaptic vesicle NA 0 PE1 -NX_P54259 125414 1190 9.01 12 Nucleoplasm;Perinuclear region;Nucleus;Cell junction Dentatorubral-pallidoluysian atrophy 0 PE1 -NX_P54274 50246 439 5.99 8 Spindle;Nucleolus;Nucleus;Telomere NA 0 PE1 -NX_P54277 105830 932 6.23 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_P54278 95797 862 6.4 7 Nucleus Hereditary non-polyposis colorectal cancer 4;Mismatch repair cancer syndrome 0 PE1 -NX_P54284 54532 484 5.93 12 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_P54289 124568 1103 5.12 7 Cytoplasm;Membrane NA 1 PE1 -NX_P54296 164896 1465 5.82 8 Mitochondrion;M line NA 0 PE1 -NX_P54315 51848 467 5.47 10 Secreted NA 0 PE1 -NX_P54317 51961 469 5.27 10 Secreted NA 0 PE1 -NX_P54368 25406 228 7.12 19 Cytoplasmic vesicle;Microtubule organizing center NA 0 PE1 -NX_P54577 59143 528 6.61 1 Cytosol;Cytoplasm Charcot-Marie-Tooth disease, dominant, intermediate type, C 0 PE1 -NX_P54578 56069 494 5.2 18 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_P54619 37579 331 6.42 12 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P54646 62320 552 7.65 1 Cytoplasm;Nucleus;Golgi apparatus;Nucleus speckle NA 0 PE1 -NX_P54652 70021 639 5.56 14 Spindle NA 0 PE1 -NX_P54687 42966 386 5.17 12 Cytoplasm NA 0 PE1 -NX_P54707 115511 1039 6.12 13 Membrane NA 10 PE1 -NX_P54709 31513 279 8.58 3 Melanosome;Cell membrane NA 1 PE1 -NX_P54710 7283 66 7.88 11 Mitochondrion;Membrane Hypomagnesemia 2 1 PE1 -NX_P54725 39609 363 4.56 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P54727 43171 409 4.79 9 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P54750 61252 535 5.72 2 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_P54753 110330 998 5.95 3 Dendrite;Cell membrane NA 1 PE1 -NX_P54756 114803 1037 6.53 4 Axon;Dendrite;Cell membrane;Endoplasmic reticulum NA 1 PE1 -NX_P54760 108270 987 6.48 7 Cell membrane Hydrops fetalis, non-immune, and/or atrial septal defect 1 PE1 -NX_P54762 109885 984 6.03 3 Cytosol;Dendrite;Early endosome membrane;Endoplasmic reticulum;Cell membrane NA 1 PE1 -NX_P54764 109860 986 6.21 2 Axon;Postsynaptic density;Dendrite;Cell membrane;Early endosome NA 1 PE1 -NX_P54792 73254 670 6.02 22 Cytoplasm NA 0 PE5 -NX_P54793 65940 590 6.78 X Cytosol;Secreted NA 0 PE1 -NX_P54802 82266 743 6.2 17 Lysosome Charcot-Marie-Tooth disease 2V;Mucopolysaccharidosis 3B 0 PE1 -NX_P54803 77063 685 6.17 14 Lysosome Leukodystrophy, globoid cell 0 PE1 -NX_P54819 26478 239 7.67 1 Mitochondrion intermembrane space Reticular dysgenesis 0 PE1 -NX_P54821 27296 245 9.48 1 Nucleoplasm;Nucleus Agnathia-otocephaly complex 0 PE1 -NX_P54826 35693 345 5.35 9 Nucleus speckle;Cell membrane NA 0 PE1 -NX_P54829 63538 565 4.82 11 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 2 PE1 -NX_P54840 80989 703 6.35 12 NA Glycogen storage disease 0 0 PE1 -NX_P54845 25940 237 7.73 14 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Retinal degeneration autosomal recessive clumped pigment type;Retinitis pigmentosa 27 0 PE1 -NX_P54849 17563 157 8.18 12 Nucleoplasm;Membrane NA 4 PE1 -NX_P54851 19199 167 7.55 16 Apical cell membrane;Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Golgi apparatus membrane;Membrane raft Nephrotic syndrome 10 4 PE1 -NX_P54852 18429 163 8.18 19 Golgi apparatus;Cell membrane;Membrane NA 4 PE1 -NX_P54855 61036 530 8.98 4 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_P54868 56635 508 8.4 1 Mitochondrion 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency 0 PE1 -NX_P54886 87302 795 6.66 10 Mitochondrion;Mitochondrion inner membrane Cutis laxa, autosomal recessive, 3A;Cutis laxa, autosomal dominant, 3;Spastic paraplegia 9B, autosomal recessive;Spastic paraplegia 9A, autosomal dominant 0 PE1 -NX_P54920 33233 295 5.23 19 Cell membrane NA 0 PE1 -NX_P54922 39507 357 6.05 3 Nucleus;Nucleus membrane NA 0 PE1 -NX_P55000 11186 103 5.21 8 Secreted Mal de Meleda 0 PE1 -NX_P55001 20826 183 4.86 1 Extracellular matrix NA 0 PE1 -NX_P55008 16703 147 5.97 6 Cytosol;Cytoskeleton;Phagocytic cup;Ruffle membrane NA 0 PE1 -NX_P55010 49223 431 5.41 14 Cytosol;Cell membrane NA 0 PE1 -NX_P55011 131447 1212 5.98 5 Cytoplasmic vesicle;Cell membrane;Membrane NA 12 PE1 -NX_P55017 113139 1021 8.1 16 Cell membrane Gitelman syndrome 12 PE1 -NX_P55036 40737 377 4.68 1 NA NA 0 PE1 -NX_P55039 40746 364 9.02 17 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_P55040 33949 296 8.77 8 Cell membrane NA 0 PE1 -NX_P55042 33245 308 9.06 16 Nucleoplasm;Cell membrane;Golgi apparatus NA 0 PE1 -NX_P55055 50974 460 7.9 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_P55056 14553 127 9.19 19 Secreted NA 0 PE1 -NX_P55058 54739 493 6.53 20 Secreted NA 0 PE1 -NX_P55060 110417 971 5.51 20 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_P55061 26538 237 8.79 12 Endoplasmic reticulum membrane NA 6 PE1 -NX_P55064 28292 265 8.82 12 Apical cell membrane;Cell membrane Keratoderma, palmoplantar, Bothnian type 6 PE1 -NX_P55072 89322 806 5.14 9 Cytosol;Nucleoplasm;Stress granule;Nucleus;Endoplasmic reticulum Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1;Charcot-Marie-Tooth disease 2Y;Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 0 PE1 -NX_P55073 33947 304 6.25 14 Endosome membrane;Cell membrane NA 1 PE1 -NX_P55075 26525 233 10.44 10 Secreted Hypogonadotropic hypogonadism 6 with or without anosmia 0 PE1 -NX_P55081 51958 439 4.95 15 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_P55082 40165 362 4.87 5 Nucleoplasm;Golgi apparatus;Cell membrane NA 1 PE1 -NX_P55083 28648 255 5.38 17 Endoplasmic reticulum;Extracellular matrix NA 0 PE1 -NX_P55084 51294 474 9.45 2 Mitochondrion;Mitochondrion inner membrane;Endoplasmic reticulum;Mitochondrion outer membrane Mitochondrial trifunctional protein deficiency 0 PE1 -NX_P55085 44126 397 9.66 5 Cell membrane NA 7 PE1 -NX_P55087 34830 323 7.59 18 Cell junction;Cell membrane;Membrane NA 6 PE1 -NX_P55089 13458 124 11.7 2 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_P55103 38238 352 6.66 12 Secreted NA 0 PE1 -NX_P55107 53122 478 9.58 10 Secreted NA 0 PE1 -NX_P55145 20700 182 8.94 3 Sarcoplasmic reticulum lumen;Endoplasmic reticulum lumen;Endoplasmic reticulum;Secreted NA 0 PE1 -NX_P55157 99351 894 8.61 4 Cytosol;Endoplasmic reticulum Abetalipoproteinemia 0 PE1 -NX_P55160 128153 1127 6.39 12 Cytosol;Cytoplasm;Cell membrane NA 1 PE1 -NX_P55196 206804 1824 6.06 6 Nucleoplasm;Cytoplasm;Cell junction;Cell membrane;Adherens junction NA 0 PE1 -NX_P55197 113320 1068 8.49 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_P55198 112048 1093 8.93 17 Nucleus NA 0 PE1 -NX_P55199 68265 621 9.43 19 Nucleus speckle;Nucleus;Cajal body NA 0 PE1 -NX_P55201 137499 1214 8.16 3 Cytosol;Cytoplasm;Nucleus;Cell membrane Intellectual developmental disorder with dysmorphic facies and ptosis 0 PE1 -NX_P55209 45374 391 4.36 12 Cytoplasm;Cytoskeleton;Nucleus;Melanosome NA 0 PE1 -NX_P55210 34277 303 5.72 10 Cytoplasm NA 0 PE1 -NX_P55211 46281 416 5.73 1 Mitochondrion NA 0 PE1 -NX_P55212 33310 293 6.46 4 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P55259 59480 537 5.08 16 Cell membrane;Secreted NA 0 PE1 -NX_P55263 40545 362 6.24 10 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Hypermethioninemia due to adenosine kinase deficiency 0 PE1 -NX_P55265 136066 1226 8.86 1 Cytoplasm;Nucleolus;Nucleus Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria 0 PE1 -NX_P55268 195981 1798 6.07 3 Cytosol;Cytoplasmic vesicle;Basement membrane Pierson syndrome;Nephrotic syndrome 5 with or without ocular abnormalities 0 PE1 -NX_P55273 17700 166 5.69 19 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P55283 100281 916 4.65 20 Cell membrane NA 1 PE1 -NX_P55285 88309 790 4.77 5 Cell membrane NA 1 PE1 -NX_P55286 88253 799 4.55 16 Cell membrane NA 1 PE1 -NX_P55287 87965 796 4.75 16 Cell membrane Elsahy-Waters syndrome 1 PE1 -NX_P55289 88332 794 4.64 5 Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_P55290 78287 713 4.8 16 Cell membrane NA 0 PE1 -NX_P55291 88916 814 4.81 16 Cytosol;Golgi apparatus;Cell membrane Mental retardation, autosomal dominant 3 1 PE1 -NX_P55316 52352 489 8.99 14 Nucleus Rett syndrome congenital variant 0 PE1 -NX_P55317 49148 472 8.93 14 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P55318 37140 350 7.01 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_P55327 24327 224 4.79 8 Cytosol;Golgi apparatus NA 0 PE1 -NX_P55344 19674 173 9.64 19 Membrane Cataract, multiple types 19 4 PE1 -NX_P55345 49042 433 5.03 21 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Cytosol NA 0 PE1 -NX_P55347 47607 436 4.79 21 Nucleoplasm;Nucleus NA 0 PE1 -NX_P55735 35541 322 5.22 3 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Lysosome membrane;Nucleoplasm;Cytoplasm;Nuclear pore complex;Endoplasmic reticulum;Cytoplasmic vesicle NA 0 PE1 -NX_P55769 14174 128 8.72 22 Nucleolus;Nucleus NA 0 PE1 -NX_P55771 36310 341 9.39 14 Nucleoplasm;Mitochondrion;Nucleus Tooth agenesis, selective, 3 0 PE1 -NX_P55773 13411 120 9.21 17 Secreted NA 0 PE1 -NX_P55774 9849 89 9.06 17 Secreted NA 0 PE1 -NX_P55786 103276 919 5.49 17 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P55789 23449 205 7.57 16 Mitochondrion;Cytoplasm;Mitochondrion intermembrane space;Cytosol;Secreted Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay 0 PE1 -NX_P55795 49264 449 5.89 X Nucleoplasm Mental retardation, X-linked, syndromic, Bain type 0 PE1 -NX_P55808 19723 180 6.95 X Cell membrane NA 1 PE1 -NX_P55809 56158 520 7.13 5 Mitochondrion;Mitochondrion matrix Succinyl-CoA:3-oxoacid CoA transferase deficiency 0 PE1 -NX_P55822 26086 239 4.09 21 Cytosol;Cell membrane NA 0 PE1 -NX_P55851 33229 309 9.74 11 Mitochondrion;Mitochondrion inner membrane NA 6 PE1 -NX_P55854 11637 103 5.32 21 PML body;Nucleus;Cytoplasm NA 0 PE1 -NX_P55884 92482 814 4.89 7 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_P55895 59241 527 5.56 11 Nucleoplasm;Nucleus Omenn syndrome;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive;Combined cellular and humoral immune defects with granulomas 0 PE1 -NX_P55899 39743 365 6.09 19 Cell membrane NA 1 PE1 -NX_P55916 34216 312 9.31 11 Cytosol;Nucleoplasm;Mitochondrion inner membrane;Cell membrane Obesity 6 PE1 -NX_P55957 21995 195 5.27 22 Cytosol;Cytoplasm;Mitochondrion membrane;Mitochondrion outer membrane NA 0 PE1 -NX_P56134 10918 94 9.7 7 Mitochondrion;Cytoplasm;Mitochondrion inner membrane NA 1 PE1 -NX_P56159 51456 465 8.3 10 Nucleoplasm;Golgi apparatus;Cell membrane NA 0 PE1 -NX_P56177 27320 255 9.71 2 Cytoplasmic vesicle;Nucleus;Cell junction NA 0 PE1 -NX_P56178 31540 289 9.31 7 Nucleus Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 0 PE1 -NX_P56179 19708 175 9.95 7 Nucleus NA 0 PE1 -NX_P56180 64322 551 8.81 21 Membrane NA 3 PE1 -NX_P56181 11941 108 9.72 21 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P56182 52839 461 9.39 21 Nucleolus NA 0 PE1 -NX_P56192 101116 900 5.82 12 Cytosol Charcot-Marie-Tooth disease 2U;Interstitial lung and liver disease 0 PE1 -NX_P56199 130848 1179 5.91 5 Membrane NA 1 PE1 -NX_P56202 42120 376 7.14 11 NA NA 0 PE1 -NX_P56211 12323 112 9.07 15 Cytoplasm NA 0 PE1 -NX_P56270 48608 477 9.21 16 Nucleus NA 0 PE1 -NX_P56277 7747 68 8.5 X Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 -NX_P56278 12600 107 5.07 X Nucleoplasm;Cell membrane NA 0 PE1 -NX_P56279 13460 114 4.98 14 Cytoplasm;Nucleus;Microsome;Endoplasmic reticulum NA 0 PE1 -NX_P56282 59537 527 5.95 14 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P56373 44289 397 7.88 11 Cell membrane NA 2 PE1 -NX_P56377 18615 157 5.39 X Cytoplasmic vesicle membrane;Clathrin-coated pit;Golgi apparatus Pettigrew syndrome 0 PE1 -NX_P56378 6662 58 10.08 14 Mitochondrion;Cytoplasm;Nucleolus;Mitochondrion membrane NA 1 PE1 -NX_P56381 5780 51 9.93 20 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex V deficiency, nuclear type 3 0 PE1 -NX_P56385 7933 69 9.34 4 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P56470 35941 323 9.21 19 Cell membrane NA 0 PE1 -NX_P56524 119040 1084 6.49 2 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Brachydactyly-mental retardation syndrome 0 PE1 -NX_P56537 26599 245 4.56 20 Nucleoplasm;Cytoplasm;Nucleolus NA 0 PE1 -NX_P56539 17259 151 5.5 3 Caveola;Cytoplasmic vesicle;Golgi apparatus membrane;Cell membrane;Sarcolemma Sudden infant death syndrome;Rippling muscle disease 2;Cardiomyopathy, familial hypertrophic;Limb-girdle muscular dystrophy 1C;Long QT syndrome 9;HyperCKmia;Myopathy, distal, Tateyama type 0 PE1 -NX_P56545 48945 445 6.47 10 Cytosol;Synapse;Nucleus NA 0 PE1 -NX_P56555 12955 118 7.76 21 NA NA 0 PE2 -NX_P56556 15137 128 9.98 22 Mitochondrion inner membrane NA 0 PE1 -NX_P56557 17936 158 5.23 21 Endoplasmic reticulum membrane;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA 4 PE1 -NX_P56559 21487 192 9.17 2 Cytosol;Cytoplasm;Filopodium;Cell membrane NA 0 PE1 -NX_P56589 42140 373 8.37 6 Nucleoplasm;Peroxisome membrane;Peroxisome Peroxisome biogenesis disorder 10B;Peroxisome biogenesis disorder complementation group 12;Peroxisome biogenesis disorder 10A 2 PE1 -NX_P56597 24236 212 5.89 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_P56645 131888 1201 6.44 1 Cytosol;Cytoplasm;Nucleus Advanced sleep phase syndrome, familial, 3 0 PE1 -NX_P56693 49911 466 6.19 22 Nucleoplasm;Cytoplasm;Nucleus;Mitochondrion outer membrane Waardenburg syndrome 2E;Waardenburg syndrome 4C;Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease 0 PE1 -NX_P56696 77101 695 9.6 1 Basal cell membrane Deafness, autosomal dominant, 2A 6 PE1 -NX_P56703 39645 355 7.47 17 Extracellular matrix;Secreted Tetraamelia syndrome 1 0 PE1 -NX_P56704 39365 352 8.52 1 Extracellular matrix;Secreted NA 0 PE1 -NX_P56705 39052 351 8.92 1 Cytoplasmic vesicle;Extracellular matrix Mullerian aplasia and hyperandrogenism;46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs 0 PE1 -NX_P56706 39327 349 9.11 22 Extracellular matrix;Secreted NA 0 PE1 -NX_P56715 240661 2156 5.55 8 Photoreceptor outer segment;Cilium axoneme Retinitis pigmentosa 1 0 PE1 -NX_P56730 97067 875 8.41 4 Cytoskeleton;Nucleus;Secreted Mental retardation, autosomal recessive 1 0 PE1 -NX_P56746 24356 228 5.61 7 Cell membrane;Tight junction NA 4 PE1 -NX_P56747 23292 220 8.32 16 Cell membrane;Tight junction NA 4 PE1 -NX_P56748 24845 225 9 21 Tight junction;Cell membrane NA 4 PE1 -NX_P56749 27110 244 8.8 7 Cell membrane;Tight junction NA 4 PE1 -NX_P56750 24603 224 9.8 21 Tight junction;Cell membrane NA 4 PE1 -NX_P56817 55764 501 5.31 11 Endosome;Late endosome;Recycling endosome;Lysosome;Endoplasmic reticulum;Cell membrane;trans-Golgi network;Early endosome;Cell surface;Cytoplasmic vesicle membrane;Membrane raft NA 1 PE1 -NX_P56851 17584 147 6.51 14 Secreted NA 0 PE1 -NX_P56856 27856 261 8.39 3 Cell membrane;Tight junction NA 4 PE1 -NX_P56880 23515 219 6.98 6 Cell membrane;Tight junction NA 4 PE2 -NX_P56915 28150 257 8.86 14 Nucleus Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 0 PE1 -NX_P56937 38206 341 8.35 1 Cell membrane NA 1 PE1 -NX_P56945 93372 870 5.41 16 Cytosol;Cytoplasm;Focal adhesion;Cell membrane NA 0 PE1 -NX_P56962 33403 302 6.14 9 Endoplasmic reticulum membrane;Autophagosome membrane;COPII-coated vesicle membrane;Nucleolus;Cytosol;Smooth endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 2 PE1 -NX_P56975 77901 720 7.79 10 Cytoplasmic vesicle;Cell membrane;Secreted NA 1 PE1 -NX_P57052 32179 281 8.87 21 Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_P57053 13944 126 10.37 21 Nucleus;Chromosome NA 0 PE1 -NX_P57054 18089 158 8.8 21 Cytoplasmic vesicle;Membrane Epileptic encephalopathy, early infantile, 55 2 PE1 -NX_P57055 20368 190 5.98 21 Nucleus NA 0 PE2 -NX_P57057 57648 533 8.61 21 Endoplasmic reticulum membrane NA 12 PE1 -NX_P57058 79686 714 9.24 21 Nucleoplasm;Cell membrane NA 0 PE1 -NX_P57059 84902 783 6.81 21 Cytosol;Cytoplasm;Nucleus Epileptic encephalopathy, early infantile, 30 0 PE1 -NX_P57060 36332 319 5.61 21 NA NA 0 PE1 -NX_P57071 169269 1507 8.59 21 Nucleoplasm;Nucleus NA 0 PE1 -NX_P57073 47314 446 6.49 16 Nucleus NA 0 PE1 -NX_P57075 74123 661 7.77 21 Nucleoplasm;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_P57076 33224 290 6.99 21 Cytoplasm;Cilium basal body Ciliary dyskinesia, primary, 26 0 PE1 -NX_P57077 27248 242 4.81 21 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P57078 91611 832 6.69 21 Cytoplasm;Membrane Popliteal pterygium syndrome, lethal type 0 PE1 -NX_P57081 45490 412 6.71 21 Cytosol;Nucleus NA 0 PE1 -NX_P57082 60204 545 7.34 17 Cytoplasmic vesicle;Nucleus Ischiocoxopodopatellar syndrome 0 PE1 -NX_P57086 19082 179 9.73 20 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 -NX_P57087 33207 298 9.23 21 Nucleoplasm;Tight junction;Cell membrane NA 1 PE1 -NX_P57088 27978 247 9.76 4 Endoplasmic reticulum membrane;Melanosome;Nucleus envelope NA 3 PE1 -NX_P57103 103010 927 5.01 14 Endoplasmic reticulum membrane;Perikaryon;Sarcolemma;Sarcoplasm;Cell membrane;Mitochondrion outer membrane;Dendrite;Perinuclear region;Dendritic spine;Cell junction NA 11 PE1 -NX_P57105 15928 145 5.86 14 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_P57678 120037 1058 5.7 17 Cytosol;Cytoplasm;Nucleolus;Nucleus;Gem Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 0 PE1 -NX_P57679 111990 992 6.29 4 Cytosol;Nucleoplasm;Cell membrane;Cilium membrane;Cilium;Cilium basal body Ellis-van Creveld syndrome;Acrofacial dysostosis, Weyers type 1 PE1 -NX_P57682 38829 345 9.44 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_P57721 39465 371 8.22 21 Cytoplasm NA 0 PE1 -NX_P57723 41482 403 8.42 3 Cytosol;Cytoplasm NA 0 PE1 -NX_P57727 49405 454 5.95 21 Endoplasmic reticulum membrane Deafness, autosomal recessive, 8 1 PE1 -NX_P57729 23712 211 7.65 11 Melanosome;Cell membrane;Mitochondrion;Nucleus;Phagosome;Melanosome membrane;Phagosome membrane NA 0 PE1 -NX_P57730 10138 90 6.27 11 NA NA 0 PE1 -NX_P57735 23496 213 5.72 1 Cytosol;Cytoplasmic vesicle;Pseudopodium membrane;Cell junction;Cell membrane NA 0 PE1 -NX_P57737 100605 925 5.51 16 Cytoplasmic vesicle;Cytosol;Golgi apparatus membrane;trans-Golgi network NA 0 PE1 -NX_P57738 11341 103 5.51 3 Cytosol;Membrane NA 2 PE1 -NX_P57739 24549 230 8.47 X Nucleoplasm;Cell membrane;Cell junction;Tight junction NA 4 PE1 -NX_P57740 106374 925 5.28 12 Nucleoplasm;Kinetochore;Nuclear pore complex;Centrosome;Nucleus membrane Ovarian dysgenesis 6;Nephrotic syndrome 11 0 PE1 -NX_P57764 52801 484 5 8 Cytosol;Nucleoplasm;Inflammasome;Cell membrane;Secreted NA 0 PE1 -NX_P57768 39167 344 4.59 8 Cytoplasmic vesicle;Cytoplasm;Early endosome membrane;Late endosome membrane;Lysosome NA 0 PE1 -NX_P57771 20917 180 9.36 1 Dendrite;Nucleus;Perikaryon;Cell membrane;Membrane NA 0 PE1 -NX_P57772 65305 596 8.61 3 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P57773 58842 515 8.67 1 Gap junction;Cell membrane NA 4 PE2 -NX_P57775 46337 412 7.54 10 Golgi apparatus Split-hand/foot malformation 3 0 PE1 -NX_P57789 59765 538 8.9 14 Membrane NA 4 PE1 -NX_P57796 30433 275 5.27 11 Cytoplasm Cone-rod synaptic disorder, congenital non-progressive 0 PE1 -NX_P58004 54494 480 5.57 1 Cytosol;Cytoplasm NA 0 PE1 -NX_P58005 57291 492 5.84 11 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_P58012 38772 376 9.26 3 Cytoskeleton;Nucleus Premature ovarian failure 3;Blepharophimosis, ptosis, and epicanthus inversus syndrome 0 PE1 -NX_P58062 9232 85 7.52 5 Secreted NA 0 PE1 -NX_P58107 555658 5088 5.45 8 Basolateral cell membrane;Apicolateral cell membrane;Hemidesmosome;Cytoskeleton;Cell projection;Cell junction;Tight junction NA 0 PE1 -NX_P58166 38561 350 9.49 12 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P58170 35424 312 8.76 17 Cell membrane NA 7 PE2 -NX_P58173 35414 313 8.64 6 Cell membrane NA 7 PE2 -NX_P58180 34958 307 9.1 17 Cell membrane NA 7 PE2 -NX_P58181 35535 314 8.87 11 Cell membrane NA 7 PE2 -NX_P58182 34813 307 8.79 6 Cell membrane NA 7 PE2 -NX_P58215 83166 753 6.4 2 Extracellular space;Nucleus;Cytoplasm NA 0 PE1 -NX_P58294 11715 105 9.01 1 Secreted NA 0 PE1 -NX_P58304 39411 361 7.11 14 Nucleus Microphthalmia, isolated, with coloboma, 3;Microphthalmia, isolated, 2;Microphthalmia with cataracts and iris abnormalities 0 PE1 -NX_P58317 44694 390 8.37 19 Nucleoplasm;Nucleolus;Nucleus;Centrosome NA 0 PE1 -NX_P58335 53666 489 7.42 4 Endoplasmic reticulum membrane;Cell membrane;Secreted Hyaline fibromatosis syndrome 1 PE1 -NX_P58340 30627 268 9.46 3 Cytoplasm;Nucleus;Cilium;Cilium basal body NA 0 PE1 -NX_P58397 177676 1594 8.25 5 Mitochondrion;Nucleolus;Extracellular matrix NA 0 PE1 -NX_P58400 50424 472 8.19 2 Synapse;Cell membrane NA 1 PE1 -NX_P58401 70927 666 5.96 11 Membrane NA 1 PE1 -NX_P58417 31082 271 8.86 7 Secreted NA 0 PE1 -NX_P58418 25719 232 8.8 3 Cell membrane Usher syndrome 3A;Retinitis pigmentosa 61 4 PE1 -NX_P58499 25982 235 8.97 21 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P58505 35003 322 10.06 21 Nucleoplasm;Nucleus NA 0 PE2 -NX_P58511 6886 58 9.87 21 Focal adhesion;Membrane NA 1 PE1 -NX_P58512 21308 204 5.95 21 NA NA 0 PE2 -NX_P58513 9586 81 9.89 21 NA NA 0 PE5 -NX_P58546 12895 118 5.27 7 Cytosol;Cytoplasm;Perinuclear region;Nucleus;Cell membrane NA 0 PE1 -NX_P58549 8524 80 8.5 19 Membrane NA 1 PE1 -NX_P58550 10590 94 6.81 X Membrane NA 1 PE5 -NX_P58557 19298 167 7.06 21 Nucleoplasm;Nucleus NA 0 PE1 -NX_P58658 49483 441 6.52 21 Membrane NA 1 PE1 -NX_P58743 81264 744 5.91 7 Cell membrane Deafness, autosomal recessive, 61 12 PE2 -NX_P58753 23883 221 7.56 11 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Membrane;Cytoskeleton NA 0 PE1 -NX_P58872 45245 404 7.25 17 Membrane NA 7 PE1 -NX_P58876 13936 126 10.31 6 Nucleus;Chromosome NA 0 PE1 -NX_P59020 16743 149 11.26 21 NA NA 0 PE2 -NX_P59022 9286 87 5.35 21 NA NA 0 PE5 -NX_P59025 30913 263 7.99 3 Cell membrane NA 1 PE1 -NX_P59036 7298 64 11.56 21 NA NA 0 PE5 -NX_P59037 8510 77 7.58 21 NA NA 0 PE5 -NX_P59044 98768 892 8.43 11 Cytoplasm;Inflammasome;Nucleus membrane;Cell membrane NA 0 PE1 -NX_P59045 117779 1033 7.98 19 Cytosol NA 0 PE1 -NX_P59046 120173 1061 6.59 19 Cytoplasm Familial cold autoinflammatory syndrome 2 0 PE1 -NX_P59047 134342 1200 6.08 19 Mitochondrion;Cytoplasm;Nucleolus NA 0 PE1 -NX_P59051 16132 145 12.1 21 NA NA 0 PE5 -NX_P59052 15706 145 9.21 21 NA NA 0 PE5 -NX_P59074 19069 171 5.17 14 NA NA 0 PE5 -NX_P59089 18635 165 11.68 21 NA NA 0 PE5 -NX_P59090 7097 65 9.38 21 NA NA 0 PE5 -NX_P59091 15087 139 9.9 21 NA NA 0 PE5 -NX_P59095 25022 220 9.36 18 NA NA 0 PE1 -NX_P59103 18108 153 8.73 13 Golgi apparatus Schizophrenia 0 PE1 -NX_P59190 24391 212 5.53 14 Cytoplasmic vesicle;Cell membrane;Microtubule organizing center NA 0 PE1 -NX_P59282 18503 170 9.07 14 Cytoplasm NA 0 PE1 -NX_P59510 214721 1910 6.98 12 Extracellular matrix NA 0 PE2 -NX_P59533 37892 333 9.6 7 Membrane NA 7 PE2 -NX_P59534 38626 338 9.12 7 Membrane NA 7 PE2 -NX_P59535 36812 323 9.95 7 Membrane NA 7 PE2 -NX_P59536 35896 307 9.98 7 Membrane NA 7 PE2 -NX_P59537 35599 309 10.05 12 Cilium membrane;Membrane NA 7 PE2 -NX_P59538 35278 309 10.05 12 Membrane NA 7 PE2 -NX_P59539 34278 299 10.06 12 Membrane NA 7 PE2 -NX_P59540 35523 309 9.79 12 Cilium membrane;Membrane NA 7 PE2 -NX_P59541 36874 319 10.12 12 Membrane NA 7 PE2 -NX_P59542 33908 299 9.97 12 Membrane NA 7 PE2 -NX_P59543 35358 309 10.06 12 Membrane NA 7 PE2 -NX_P59544 34558 299 9.83 12 Membrane NA 7 PE2 -NX_P59551 36337 318 9.94 7 Membrane NA 7 PE2 -NX_P59646 9373 89 7.65 10 Membrane NA 1 PE2 -NX_P59665 10201 94 6.54 8 Secreted NA 0 PE1 -NX_P59666 10245 94 5.71 8 Secreted NA 0 PE1 -NX_P59768 7850 71 7.78 14 Cytoplasmic vesicle;Cell membrane;Golgi apparatus NA 0 PE1 -NX_P59773 21573 190 7.86 5 Membrane NA 1 PE2 -NX_P59780 22017 193 5.11 15 Cytoplasmic vesicle membrane;Golgi apparatus NA 0 PE1 -NX_P59796 24971 221 6.21 6 Secreted NA 0 PE2 -NX_P59797 36800 346 9.68 19 NA NA 0 PE1 -NX_P59817 60816 542 9.03 22 Nucleoplasm;Nucleus NA 0 PE1 -NX_P59826 50342 476 6.27 20 Cytoplasm;Secreted NA 0 PE1 -NX_P59827 65055 614 4.95 20 Cytoplasm;Secreted NA 0 PE1 -NX_P59861 8199 70 7.59 4 Secreted NA 0 PE1 -NX_P59894 39859 354 9.4 11 NA NA 0 PE2 -NX_P59901 55165 499 8.29 19 Cell membrane NA 1 PE1 -NX_P59910 36118 316 7.68 11 Flagellum;Cell membrane Ciliary dyskinesia, primary, 34 0 PE1 -NX_P59922 35019 312 8.89 6 Cell membrane NA 7 PE5 -NX_P59923 118963 1031 9.5 3 Cytosol;Mitochondrion;Nucleus NA 0 PE1 -NX_P59942 13259 119 7.85 6 Mitochondrion NA 0 PE2 -NX_P59990 9737 96 8.22 21 NA NA 0 PE1 -NX_P59991 14689 146 8.17 21 NA NA 0 PE1 -NX_P59998 19667 168 8.53 3 Nucleus;Cytoskeleton;Cell projection NA 0 PE1 -NX_P60002 9462 83 8.24 19 Cytosol;Nucleus NA 0 PE1 -NX_P60006 14281 121 3.47 11 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_P60008 25632 231 10.95 17 Nucleus;Chromosome NA 0 PE1 -NX_P60014 25571 251 7.35 21 NA NA 0 PE1 -NX_P60022 7420 68 8.96 8 Secreted;Membrane NA 0 PE1 -NX_P60033 25809 236 5.09 11 Basolateral cell membrane;Cell membrane Immunodeficiency, common variable, 6 4 PE1 -NX_P60059 7741 68 10.01 7 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_P60153 24307 205 6.18 14 Secreted NA 0 PE1 -NX_P60174 30791 286 5.65 12 Nucleoplasm Triosephosphate isomerase deficiency 0 PE1 -NX_P60201 30077 277 8.71 X Myelin membrane;Cell membrane Leukodystrophy, hypomyelinating, 1;Spastic paraplegia 2, X-linked 4 PE1 -NX_P60228 52221 445 5.71 8 Cytosol;Cytoplasm;Nucleus;PML body NA 0 PE1 -NX_P60321 15132 138 9.02 19 Cytoplasm;Perinuclear region;P-body NA 0 PE1 -NX_P60323 18844 173 9.17 19 Nucleolus;Golgi apparatus;Stress granule;Cytoplasm;P-body;Nucleus NA 0 PE1 -NX_P60328 9947 96 8.02 21 NA NA 0 PE1 -NX_P60329 11433 112 7.68 21 NA NA 0 PE1 -NX_P60331 28660 282 7.77 21 NA NA 0 PE2 -NX_P60368 25616 255 7.52 21 NA NA 0 PE2 -NX_P60369 22348 221 7.99 21 NA NA 0 PE2 -NX_P60370 27626 271 7.5 21 NA NA 0 PE1 -NX_P60371 36791 365 6 21 NA NA 0 PE2 -NX_P60372 40429 401 7.12 21 NA NA 0 PE1 -NX_P60409 37372 370 7.38 21 NA NA 0 PE1 -NX_P60410 26299 259 7.82 21 NA NA 0 PE1 -NX_P60411 30037 292 7.87 21 NA NA 0 PE1 -NX_P60412 30243 298 7.93 21 NA NA 0 PE1 -NX_P60413 25107 245 7.94 21 NA NA 0 PE2 -NX_P60468 9974 96 11.57 9 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_P60484 47166 403 5.94 10 PML body;Secreted;Cytosol;Cytoplasm;Nucleoplasm;Nucleus Glioma 2;Prostate cancer;Macrocephaly/autism syndrome;Cowden syndrome 1;Squamous cell carcinoma of the head and neck;Endometrial cancer;Lhermitte-Duclos disease 0 PE1 -NX_P60507 65248 584 8.56 X Virion;Cell membrane NA 1 PE1 -NX_P60508 59523 538 9.14 6 Virion;Cell membrane NA 1 PE1 -NX_P60509 58521 514 7.61 3 Cell membrane NA 1 PE2 -NX_P60510 35080 307 4.91 16 Cytosol;Cytoplasm;Nucleus;Centrosome;Cell membrane NA 0 PE1 -NX_P60520 13667 117 7.81 16 Golgi apparatus;Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Autophagosome NA 0 PE1 -NX_P60568 17628 153 7.67 4 Secreted NA 0 PE1 -NX_P60602 8183 79 9.58 20 Cytoplasm;Mitochondrion inner membrane NA 1 PE1 -NX_P60604 18566 165 4.62 21 NA NA 0 PE1 -NX_P60606 9045 82 5.08 19 Nucleoplasm;Cell junction;Cell membrane;Membrane NA 1 PE2 -NX_P60608 58319 527 8.65 7 Virion NA 0 PE1 -NX_P60660 16930 151 4.56 12 NA NA 0 PE1 -NX_P60673 14596 137 9.49 5 Cytoskeleton;Nucleus NA 0 PE1 -NX_P60709 41737 375 5.29 7 Cytoskeleton;Nucleus Dystonia, juvenile-onset;Baraitser-Winter syndrome 1 0 PE1 -NX_P60763 21379 192 8.43 17 Cytoplasm;Cell membrane;Endomembrane system;Perinuclear region;Lamellipodium;Cytoskeleton NA 0 PE1 -NX_P60827 27685 252 9.7 16 Secreted NA 0 PE1 -NX_P60842 46154 406 5.32 17 Cytoplasm;Nucleus NA 0 PE1 -NX_P60852 70049 638 6.63 11 Cell membrane;Extracellular matrix Oocyte maturation defect 1 1 PE1 -NX_P60866 13373 119 9.95 8 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_P60880 23315 206 4.66 20 Synaptosome;Perinuclear region;Cell membrane Myasthenic syndrome, congenital, 18 0 PE1 -NX_P60891 34834 318 6.51 X NA Deafness, X-linked, 1;ARTS syndrome;Phosphoribosylpyrophosphate synthetase superactivity;Charcot-Marie-Tooth disease, X-linked recessive, 5 0 PE1 -NX_P60893 41995 370 9.75 7 Golgi apparatus;Endoplasmic reticulum;Cell membrane NA 7 PE1 -NX_P60896 8278 70 3.81 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P60900 27399 246 6.35 14 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P60903 11203 97 6.82 1 Mitochondrion;Cytoplasm NA 0 PE1 -NX_P60953 21259 191 6.16 1 Spindle;Cytoskeleton;Midbody;Cell membrane;Centrosome Takenouchi-Kosaki syndrome 0 PE1 -NX_P60981 18506 165 8.06 20 NA NA 0 PE1 -NX_P60983 16713 142 5.19 14 NA NA 0 PE1 -NX_P60985 11050 99 6.72 19 Secreted NA 0 PE1 -NX_P61006 23668 207 9.15 19 Golgi apparatus;Phagosome;Midbody;Centriole;Nucleus;Cell membrane;Phagosome membrane;Recycling endosome membrane;Cilium;Cilium basal body NA 0 PE1 -NX_P61009 20313 180 8.66 4 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum NA 1 PE1 -NX_P61011 55705 504 8.87 14 Cytosol;Cytoplasm;Nucleolus;Nucleus speckle NA 0 PE1 -NX_P61018 23587 213 5.8 19 Cell membrane NA 0 PE1 -NX_P61019 23546 212 6.08 8 Endoplasmic reticulum membrane;Melanosome;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 0 PE1 -NX_P61020 23707 215 8.29 12 Melanosome;Cytoplasm;Early endosome membrane;Cell membrane;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P61024 9660 79 8.89 1 NA NA 0 PE1 -NX_P61026 22541 200 8.58 2 Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Perinuclear region;Golgi apparatus membrane;Phagosome membrane;Cytoplasmic vesicle membrane;Recycling endosome membrane;Cilium NA 0 PE1 -NX_P61073 39746 352 8.46 2 Early endosome;Late endosome;Cell junction;Cell membrane;Lysosome WHIM syndrome 7 PE1 -NX_P61077 16687 147 7.67 4 Endosome membrane;Cell membrane NA 0 PE1 -NX_P61081 20900 183 7.57 19 Cytosol;Nucleus NA 0 PE1 -NX_P61086 22407 200 5.33 4 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_P61088 17138 152 6.13 12 Cytoplasm;Nucleus NA 0 PE1 -NX_P61106 23897 215 5.85 9 trans-Golgi network membrane;Cytoplasm;Early endosome membrane;Phagosome;Cytoplasmic vesicle;Nucleus;Golgi apparatus membrane;Recycling endosome NA 0 PE1 -NX_P61129 131670 1189 7.31 2 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_P61158 47371 418 5.61 2 Cytoplasm;Cytoskeleton;Nucleus;Cell projection NA 0 PE1 -NX_P61160 44761 394 6.29 2 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Cell projection NA 0 PE1 -NX_P61163 42614 376 6.19 10 Cytoplasm;Cytoskeleton;Cell cortex;Centrosome NA 0 PE1 -NX_P61165 9079 79 5.57 11 Cytosol;Cell membrane;Endoplasmic reticulum;Membrane NA 2 PE1 -NX_P61201 51597 443 5.36 15 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_P61204 20601 181 6.84 12 Perinuclear region;Golgi apparatus NA 0 PE1 -NX_P61218 14478 127 4.11 22 Nucleolus;Nucleus NA 0 PE1 -NX_P61221 67314 599 8.63 4 Cytosol;Mitochondrion;Cytoplasm NA 0 PE1 -NX_P61224 20825 184 5.65 12 Cytosol;Cytoplasm;Nucleus;Cell junction;Cell membrane NA 0 PE1 -NX_P61225 20504 183 4.73 3 Recycling endosome membrane NA 0 PE1 -NX_P61236 13608 119 7.66 16 Nucleolus NA 0 PE1 -NX_P61244 18275 160 5.88 14 Cytoplasmic vesicle;Dendrite;Nucleus;Golgi apparatus;Nucleoplasm Pheochromocytoma 0 PE1 -NX_P61247 29945 264 9.75 4 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_P61254 17258 145 10.55 17 NA Diamond-Blackfan anemia 11 0 PE1 -NX_P61266 33245 288 5.25 16 Spindle;Nucleus;Centrosome;Membrane Generalized epilepsy with febrile seizures plus 9 1 PE1 -NX_P61278 12736 116 5.47 3 Secreted NA 0 PE1 -NX_P61289 29506 254 5.69 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P61296 23666 217 9.23 4 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P61313 24146 204 11.62 3 Membrane Diamond-Blackfan anemia 12 0 PE1 -NX_P61326 17164 146 5.74 1 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_P61328 27399 243 9.98 3 Nucleoplasm;Cytosol;Nucleus Epileptic encephalopathy, early infantile, 47 0 PE1 -NX_P61353 15798 136 10.56 17 Cytosol;Cytoplasm;Nucleolus;Rough endoplasmic reticulum Diamond-Blackfan anemia 16 0 PE1 -NX_P61366 14722 133 9.62 3 Secreted NA 0 PE1 -NX_P61371 39036 349 8.64 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_P61421 40329 351 4.89 16 Membrane NA 0 PE1 -NX_P61457 12000 104 6.28 10 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Hyperphenylalaninemia, BH4-deficient, D 0 PE1 -NX_P61513 10275 92 10.44 2 NA NA 0 PE1 -NX_P61550 68171 626 8.25 19 Cell membrane NA 1 PE1 -NX_P61565 79236 698 9.22 12 Virion;Cell membrane NA 1 PE1 -NX_P61566 66585 588 8.23 22 Virion;Cell membrane NA 1 PE2 -NX_P61567 66649 588 8.55 1 Virion;Cell membrane NA 1 PE2 -NX_P61568 21462 191 6.29 1 Virion NA 0 PE5 -NX_P61570 74892 661 9 11 Virion;Cell membrane NA 1 PE3 -NX_P61571 11722 104 10.39 12 Cytoplasm;Nucleolus NA 0 PE1 -NX_P61572 11828 105 10.22 19 Cytoplasm;Nucleolus NA 0 PE1 -NX_P61573 11828 105 10.22 6 Cytoplasm;Nucleolus NA 0 PE1 -NX_P61574 11920 105 10.13 19 Cytoplasm;Nucleolus NA 0 PE1 -NX_P61575 11844 105 10.22 8 Cytoplasm;Nucleolus NA 0 PE1 -NX_P61576 11735 105 9.95 5 Cytoplasm;Nucleolus NA 0 PE1 -NX_P61578 11808 105 10 10 Cytoplasm;Nucleolus NA 0 PE1 -NX_P61579 11828 105 10.22 11 Cytoplasm;Nucleolus NA 0 PE1 -NX_P61580 8892 75 9.91 5 Nucleus NA 0 PE1 -NX_P61581 8893 75 9.74 22 Nucleus NA 0 PE1 -NX_P61582 8820 75 9.58 1 Nucleus NA 0 PE3 -NX_P61583 8907 75 9.66 3 Nucleus NA 0 PE3 -NX_P61586 21768 193 5.83 3 Cleavage furrow;Cell cortex;Cell membrane;Lamellipodium;Cytoskeleton;Midbody NA 0 PE1 -NX_P61587 27368 244 8.78 2 Golgi apparatus membrane NA 0 PE1 -NX_P61599 20368 178 4.98 20 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P61601 22245 193 5.23 8 NA NA 0 PE1 -NX_P61604 10932 102 8.89 2 Mitochondrion matrix NA 0 PE1 -NX_P61619 52265 476 8.3 3 Endoplasmic reticulum membrane;Endoplasmic reticulum Familial juvenile hyperuricemic nephropathy 4 10 PE1 -NX_P61626 16537 148 9.38 12 Nucleoplasm;Cytoskeleton;Golgi apparatus;Secreted Amyloidosis 8 0 PE1 -NX_P61647 44836 398 9.19 10 Golgi apparatus membrane;Endoplasmic reticulum NA 1 PE1 -NX_P61758 22658 197 6.64 X Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P61764 67569 594 6.5 9 Cytosol;Nucleoplasm;Membrane Epileptic encephalopathy, early infantile, 4 0 PE1 -NX_P61769 13715 119 6.06 15 Cytosol;Cell surface;Cell membrane;Golgi apparatus;Secreted Amyloidosis 8;Immunodeficiency 43 0 PE1 -NX_P61803 12497 113 6.52 14 Cytosol;Endoplasmic reticulum membrane NA 3 PE1 -NX_P61812 47748 414 8.82 1 Secreted;Extracellular matrix Loeys-Dietz syndrome 4 0 PE1 -NX_P61916 16570 151 7.57 14 Secreted;Endoplasmic reticulum;Lysosome Niemann-Pick disease C2 0 PE1 -NX_P61923 20198 177 4.69 12 COPI-coated vesicle membrane;Cytoplasm;Golgi apparatus membrane;Golgi apparatus;Cell membrane NA 0 PE1 -NX_P61925 7989 76 4.45 8 NA NA 0 PE1 -NX_P61927 11078 97 11.74 5 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P61952 8481 73 5.47 7 Cytoplasm;Cell membrane NA 0 PE1 -NX_P61956 10871 95 5.32 17 PML body;Nucleus NA 0 PE1 -NX_P61960 9118 85 9.36 13 Cytoplasm;Nucleus Leukodystrophy, hypomyelinating, 14 0 PE1 -NX_P61962 38926 342 5.27 17 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_P61964 36588 334 8.54 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_P61966 18733 158 5.6 7 Cytoplasmic vesicle membrane;Clathrin-coated pit;Golgi apparatus Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 0 PE1 -NX_P61968 17994 165 8.75 1 Nucleoplasm;Midbody ring NA 0 PE1 -NX_P61970 14478 127 5.1 16 Nucleus outer membrane;Cytosol;Nuclear pore complex;Nucleoplasm;Cytoskeleton;Nucleus inner membrane NA 0 PE1 -NX_P61978 50976 463 5.39 9 Nucleoplasm;Cytoplasm;Podosome Au-Kline syndrome 0 PE1 -NX_P61981 28303 247 4.8 7 Cytoplasm Epileptic encephalopathy, early infantile, 56 0 PE1 -NX_P62068 42442 366 6.39 4 Nucleolus NA 0 PE1 -NX_P62070 23400 204 5.74 11 Cytosol;Nucleus;Cell membrane Ovarian cancer 0 PE1 -NX_P62072 10333 90 5.89 11 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P62079 30337 268 4.59 4 Cell membrane NA 4 PE1 -NX_P62081 22127 194 10.09 2 Cytosol;Nucleolus;Nucleus;Centrosome;Endoplasmic reticulum Diamond-Blackfan anemia 8 0 PE1 -NX_P62136 37512 330 5.94 11 Nucleolus;Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus NA 0 PE1 -NX_P62140 37187 327 5.84 2 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Cell membrane Noonan syndrome-like disorder with loose anagen hair 2 0 PE1 -NX_P62166 21879 190 4.71 9 Golgi apparatus;Cytoplasm;Cell membrane;Perinuclear region;Membrane;Postsynaptic density NA 0 PE1 -NX_P62191 49185 440 5.87 14 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Membrane NA 0 PE1 -NX_P62195 45626 406 7.11 17 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_P62241 24205 208 10.32 1 Nucleolus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleus;Membrane NA 0 PE1 -NX_P62244 14840 130 10.14 16 Cytoplasm NA 0 PE1 -NX_P62249 16445 146 10.21 19 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_P62253 19509 170 5.2 17 Cytosol;Nucleoplasm NA 0 PE1 -NX_P62256 20655 183 4.55 7 Mitochondrion NA 0 PE1 -NX_P62258 29174 255 4.63 17 Cytosol;Cytoplasm;Nucleus;Melanosome NA 0 PE1 -NX_P62263 16273 151 10.07 5 Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P62266 15808 143 10.5 5 Cytosol;Cytoplasm;Rough endoplasmic reticulum;Endoplasmic reticulum Brachycephaly, trichomegaly, and developmental delay 0 PE1 -NX_P62269 17719 152 10.99 6 Cytosol;Cytoplasm NA 0 PE1 -NX_P62273 6677 56 10.16 14 Cytosol;Cytoplasm;Rough endoplasmic reticulum;Endoplasmic reticulum Diamond-Blackfan anemia 13 0 PE1 -NX_P62277 17222 151 10.53 11 Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_P62280 18431 158 10.31 19 Cytosol;Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_P62304 10804 92 9.46 1 Cytosol;Nucleus Hypotrichosis 11 0 PE1 -NX_P62306 9725 86 4.7 12 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_P62308 8496 76 8.98 2 Cytosol;Nucleus NA 0 PE1 -NX_P62310 11845 102 4.58 3 Nucleolus;Nucleus NA 0 PE1 -NX_P62312 9128 80 9.61 4 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_P62314 13282 119 11.56 18 Cytosol;Nucleus NA 0 PE1 -NX_P62316 13527 118 9.92 19 Cytosol;Nucleus NA 0 PE1 -NX_P62318 13916 126 10.33 22 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_P62324 19209 171 8.35 12 Cytosol;Nucleoplasm NA 0 PE1 -NX_P62328 5053 44 5.02 X Cytoplasmic vesicle;Nucleoplasm;Cytoskeleton;Cytosol NA 0 PE1 -NX_P62330 20082 175 9.04 14 Ruffle;Cleavage furrow;Cytosol;Early endosome membrane;Midbody ring;Cell membrane;Endosome membrane;Filopodium membrane;trans-Golgi network membrane;Recycling endosome membrane NA 0 PE1 -NX_P62333 44173 389 7.09 14 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 -NX_P62341 22324 195 8.79 3 Endoplasmic reticulum membrane NA 1 PE1 -NX_P62380 20887 186 9.61 6 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P62424 29996 266 10.61 9 Cytoplasmic vesicle;Nucleolus NA 0 PE1 -NX_P62487 19294 172 5.33 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_P62491 24394 216 6.12 15 Golgi apparatus;Cleavage furrow;Phagosome;Microtubule organizing center;Cytoplasmic vesicle;Cell membrane;Recycling endosome membrane NA 0 PE1 -NX_P62495 49031 437 5.51 5 Cytoplasm NA 0 PE1 -NX_P62502 18045 163 4.84 9 Secreted NA 0 PE1 -NX_P62508 51306 458 6.04 1 Nucleus NA 0 PE1 -NX_P62633 19463 177 8 3 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum Dystrophia myotonica 2 0 PE1 -NX_P62683 74000 666 8.86 12 Cell membrane NA 0 PE1 -NX_P62684 74038 666 8.95 19 Cell membrane NA 0 PE1 -NX_P62685 72181 647 8.88 8 Cell membrane NA 0 PE1 -NX_P62699 13842 121 6.82 2 Cytosol;Spindle pole;Midbody;Nucleoplasm;Nucleus;Centrosome NA 0 PE1 -NX_P62701 29598 263 10.16 X Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P62714 35575 309 5.21 8 Nucleoplasm;Cytoplasm;Nucleus;Centromere;Spindle pole NA 0 PE1 -NX_P62736 42009 377 5.24 10 Cytoskeleton Aortic aneurysm, familial thoracic 6;Multisystemic smooth muscle dysfunction syndrome;Moyamoya disease 5 0 PE1 -NX_P62745 22123 196 5.1 2 Late endosome membrane;Nucleus;Cleavage furrow;Cell membrane NA 0 PE1 -NX_P62750 17695 156 10.44 17 Nucleolus;Nucleus NA 0 PE1 -NX_P62753 28681 249 10.85 9 Cytosol;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_P62760 22142 191 5.01 2 NA NA 0 PE1 -NX_P62805 11367 103 11.36 12 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_P62807 13906 126 10.31 6 Nucleus;Chromosome NA 0 PE1 -NX_P62820 22678 205 5.93 2 Melanosome;Golgi apparatus;Cytosol;Cytoplasm;Early endosome;Endoplasmic reticulum;Membrane NA 0 PE1 -NX_P62826 24423 216 7.01 12 Cytosol;Melanosome;Nucleus;Nucleus envelope;Cytoplasm NA 0 PE1 -NX_P62829 14865 140 10.51 17 Cytosol;Cytoplasm NA 0 PE1 -NX_P62834 20987 184 6.39 1 Cytoplasm;Perinuclear region;Cell junction;Cell membrane;Early endosome NA 0 PE1 -NX_P62837 16735 147 7.69 5 NA NA 0 PE1 -NX_P62841 17040 145 10.39 19 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_P62847 15423 133 10.79 10 Cytosol;Nucleus;Endoplasmic reticulum Diamond-Blackfan anemia 3 0 PE1 -NX_P62851 13742 125 10.12 11 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_P62854 13015 115 11.01 12 Cytosol;Cytoplasm;Rough endoplasmic reticulum Diamond-Blackfan anemia 10 0 PE1 -NX_P62857 7841 69 10.7 19 Cytosol;Cytoplasm;Rough endoplasmic reticulum Diamond-Blackfan anemia 15, with mandibulofacial dysostosis 0 PE1 -NX_P62861 6648 59 12.15 11 Cytosol;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_P62873 37377 340 5.6 1 NA Mental retardation, autosomal dominant 42 0 PE1 -NX_P62875 7645 67 7.65 11 Nucleus NA 0 PE1 -NX_P62877 12274 108 6.49 22 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P62879 37331 340 5.6 7 Perinuclear region NA 0 PE1 -NX_P62888 12784 115 9.65 8 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_P62891 6407 51 12.55 X NA NA 0 PE1 -NX_P62899 14463 125 10.54 2 NA NA 0 PE1 -NX_P62906 24831 217 9.94 6 Cytosol;Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_P62910 15860 135 11.32 3 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_P62913 20252 178 9.64 1 Cytoplasmic vesicle;Cytoplasm;Nucleolus Diamond-Blackfan anemia 7 0 PE1 -NX_P62917 28025 257 11.04 8 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_P62937 18012 165 7.68 7 Cytoplasm;Secreted NA 0 PE1 -NX_P62942 11951 108 7.89 20 Cytosol;Sarcoplasmic reticulum membrane NA 0 PE1 -NX_P62945 3456 25 12.96 12 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P62952 9876 87 6.21 20 Nucleolus;Membrane NA 2 PE1 -NX_P62955 31003 275 6.65 19 Cell membrane NA 4 PE1 -NX_P62979 17965 156 9.68 2 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_P62987 14728 128 9.87 19 Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_P62993 25206 217 5.89 17 Cytoplasm;Endosome;Nucleus;Golgi apparatus NA 0 PE1 -NX_P62995 33666 288 11.25 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_P63000 21450 192 8.77 7 Nucleolus;Melanosome;Cytosol;Cytoplasm;Cell membrane;Nucleus;Lamellipodium Mental retardation, autosomal dominant 48 0 PE1 -NX_P63010 104553 937 5.22 17 Cytoplasmic vesicle;Coated pit;Cell membrane NA 0 PE1 -NX_P63027 12663 116 7.84 17 Synaptosome;Synaptic vesicle membrane;Cell membrane NA 1 PE1 -NX_P63092 45665 394 5.59 20 Cell membrane Pseudohypoparathyroidism 1B;Pseudohypoparathyroidism 1C;Pseudohypoparathyroidism 1A;Albright hereditary osteodystrophy;GNAS hyperfunction;Progressive osseous heteroplasia;ACTH-independent macronodular adrenal hyperplasia 1;McCune-Albright syndrome 0 PE1 -NX_P63096 40361 354 5.69 7 Golgi apparatus;Cytoplasm;Cell cortex;Cell membrane;Nucleus;Membrane;Centrosome NA 0 PE1 -NX_P63098 19300 170 4.64 2 Cytosol;Cytoplasm;Sarcolemma;Cell membrane NA 0 PE1 -NX_P63104 27745 245 4.73 8 Cytoplasm;Melanosome NA 0 PE1 -NX_P63119 17107 156 7.92 12 NA NA 0 PE3 -NX_P63120 17107 156 7.92 19 NA NA 0 PE3 -NX_P63121 17136 156 5.86 19 NA NA 0 PE3 -NX_P63122 17206 156 8.56 8 NA NA 0 PE3 -NX_P63123 17101 156 7.95 1 NA NA 0 PE3 -NX_P63124 17121 156 5.86 5 NA NA 0 PE3 -NX_P63125 17077 156 7.92 11 NA NA 0 PE3 -NX_P63126 74005 666 9.02 6 Cell membrane NA 0 PE1 -NX_P63127 17194 156 8.56 6 NA NA 0 PE3 -NX_P63128 123620 1117 9.04 6 Cell membrane NA 0 PE3 -NX_P63129 17139 156 7.92 22 NA NA 0 PE3 -NX_P63130 74111 666 8.99 1 Cell membrane NA 0 PE3 -NX_P63131 17078 156 5.86 1 NA NA 0 PE3 -NX_P63132 107766 956 9.06 19 NA NA 0 PE3 -NX_P63133 107703 956 9.11 8 NA NA 0 PE3 -NX_P63135 165184 1459 9.09 1 NA NA 0 PE3 -NX_P63136 107472 954 9.14 11 NA NA 0 PE3 -NX_P63145 74040 666 8.99 22 Cell membrane NA 0 PE1 -NX_P63146 17312 152 4.91 5 Nucleus;Cell membrane NA 0 PE1 -NX_P63151 51692 447 5.82 8 NA NA 0 PE1 -NX_P63162 24614 240 11.2 15 Nucleus NA 0 PE1 -NX_P63165 11557 101 5.34 2 Nucleus speckle;Nucleolus;Nucleus membrane;PML body;Cytoplasm;Cell membrane;Nucleus Non-syndromic orofacial cleft 10 0 PE1 -NX_P63167 10366 89 6.89 12 Mitochondrion;Cytoskeleton;Nucleus;Centrosome NA 0 PE1 -NX_P63172 12452 113 5 6 Nucleoplasm;Cytoplasm;Spindle;Golgi apparatus NA 0 PE1 -NX_P63173 8218 70 10.1 17 Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P63208 18658 163 4.4 5 Cytosol;Nucleus NA 0 PE1 -NX_P63211 8496 74 4.76 7 Cell membrane NA 0 PE1 -NX_P63215 8305 75 7.65 11 Cell membrane NA 0 PE1 -NX_P63218 7318 68 9.9 1 Cell membrane NA 0 PE1 -NX_P63220 9111 83 8.68 20 Cytosol;Cytoplasm;Rough endoplasmic reticulum;Endoplasmic reticulum NA 0 PE1 -NX_P63241 16832 154 5.07 17 Endoplasmic reticulum membrane;Cytosol;Cytoplasm;Nuclear pore complex;Nucleoplasm;Nucleus NA 0 PE1 -NX_P63244 35077 317 7.6 5 Phagocytic cup;Perikaryon;Dendrite;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Perinuclear region;Nucleus NA 0 PE1 -NX_P63252 48288 427 5.47 17 Membrane Short QT syndrome 3;Long QT syndrome 7;Atrial fibrillation, familial, 9 2 PE1 -NX_P63261 41793 375 5.31 17 Cytoplasm;Cytoskeleton Deafness, autosomal dominant, 20;Baraitser-Winter syndrome 2 0 PE1 -NX_P63267 41877 376 5.31 2 Cytoskeleton Visceral myopathy 0 PE1 -NX_P63272 13193 117 8.29 17 Nucleus NA 0 PE1 -NX_P63279 18007 158 8.87 16 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P63302 9448 87 9.3 19 Cytoplasm NA 0 PE1 -NX_P63313 5026 44 5.31 2 Cytoskeleton NA 0 PE1 -NX_P63316 18403 161 4.04 3 Mitochondrion;Nucleoplasm;Cytoskeleton Cardiomyopathy, familial hypertrophic 13;Cardiomyopathy, dilated 1Z 0 PE1 -NX_P67775 35594 309 5.3 5 Cytoplasm;Nucleus;Centromere;Spindle pole NA 0 PE1 -NX_P67809 35924 324 9.87 1 Nucleolus;Secreted;Cytosol;Cytoplasm;Cytoplasmic vesicle;Cytoplasmic granule;Nucleus NA 0 PE1 -NX_P67812 20625 179 9.48 15 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_P67870 24942 215 5.33 6 NA NA 0 PE1 -NX_P67936 28522 248 4.67 19 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_P68032 42019 377 5.23 15 Cytoskeleton Cardiomyopathy, dilated 1R;Atrial septal defect 5;Cardiomyopathy, familial hypertrophic 11 0 PE1 -NX_P68036 17862 154 8.68 22 Cytoplasm;Nucleus NA 0 PE1 -NX_P68104 50141 462 9.1 6 Cytoplasm;Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_P68106 11783 108 8.62 2 Cytoplasmic vesicle;Cytoplasm;Sarcoplasmic reticulum NA 0 PE1 -NX_P68133 42051 377 5.23 1 Cytoskeleton Myopathy, actin, congenital, with excess of thin myofilaments;Nemaline myopathy 3;Myopathy, scapulohumeroperoneal;Myopathy, congenital, with fiber-type disproportion 0 PE1 -NX_P68363 50152 451 4.94 12 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_P68366 49924 448 4.95 2 Cytoskeleton Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia 0 PE1 -NX_P68371 49831 445 4.79 9 Cytoplasm;Cytoskeleton Leber congenital amaurosis with early-onset deafness 0 PE1 -NX_P68400 45144 391 7.29 20 Nucleus Okur-Chung neurodevelopmental syndrome 0 PE1 -NX_P68402 25569 229 5.57 11 Cytosol;Cytoplasm;Nucleolus;Cell membrane NA 0 PE1 -NX_P68431 15404 136 11.13 6 Nucleus;Chromosome Glioma 0 PE1 -NX_P68543 29278 259 5.91 2 Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_P68871 15998 147 6.74 11 Cytoplasm;Nucleus Beta-thalassemia, dominant, inclusion body type;Heinz body anemias;Beta-thalassemia;Sickle cell anemia 0 PE1 -NX_P69849 134134 1222 5.44 16 Membrane NA 1 PE3 -NX_P69891 16140 147 6.64 11 NA NA 0 PE1 -NX_P69892 16126 147 6.64 11 NA Cyanosis transient neonatal 0 PE1 -NX_P69905 15258 142 8.72 16 NA Hemoglobin H disease;Alpha-thalassemia;Heinz body anemias 0 PE1 -NX_P78310 40030 365 7.49 21 Basolateral cell membrane;Secreted;Cell membrane;Adherens junction;Cell junction;Tight junction NA 1 PE1 -NX_P78312 139988 1265 6.04 4 Cytosol;Cell membrane NA 0 PE1 -NX_P78314 62244 561 7.67 4 Cytoskeleton;Nucleus Cherubism 0 PE1 -NX_P78316 97668 857 7.33 4 Nucleolus;Nucleus NA 0 PE1 -NX_P78317 21319 190 6.59 4 Nucleoplasm;Cytoplasm;Nucleus;PML body NA 0 PE1 -NX_P78318 39222 339 5.26 X Cytoplasm;Cytoskeleton Mental retardation, X-linked, syndromic, 28 0 PE1 -NX_P78324 54967 504 6.51 20 Membrane NA 1 PE1 -NX_P78325 88771 824 7.63 10 Membrane NA 1 PE1 -NX_P78329 59853 520 6.6 19 Endoplasmic reticulum membrane;Microsome membrane Coumarin resistance 0 PE1 -NX_P78330 25008 225 5.53 7 Cytosol Phosphoserine phosphatase deficiency 0 PE1 -NX_P78332 128644 1123 5.93 3 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_P78333 63707 572 6.38 13 Cytosol;Extracellular space;Nucleus;Cell membrane NA 0 PE1 -NX_P78334 57972 506 8.36 X Postsynaptic cell membrane;Cell membrane NA 4 PE2 -NX_P78337 34128 314 9.13 5 Nucleolus;Nucleus Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly;Liebenberg syndrome 0 PE1 -NX_P78344 102362 907 6.7 11 Cytosol NA 0 PE1 -NX_P78345 31834 283 9.94 10 Nucleolus NA 0 PE1 -NX_P78346 29321 268 9.11 10 Cytosol;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_P78347 112416 998 6.09 7 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P78348 59909 528 5.48 12 Cell membrane;Golgi apparatus NA 2 PE1 -NX_P78352 80495 724 5.58 17 Cytoplasmic vesicle;Synapse;Cytoplasm;Cell membrane;Axon;Postsynaptic density NA 0 PE1 -NX_P78356 47378 416 6.9 17 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 -NX_P78357 156267 1384 6.61 17 Nucleoplasm;Paranodal septate junction;Membrane Lethal congenital contracture syndrome 7 1 PE1 -NX_P78358 17992 180 8.79 X Cytoplasm NA 0 PE1 -NX_P78362 77527 688 4.87 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P78363 255944 2273 5.89 1 Membrane Cone-rod dystrophy 3;Macular degeneration, age-related, 2;Stargardt disease 1;Retinitis pigmentosa 19;Fundus flavimaculatus 12 PE1 -NX_P78364 105534 1004 9.17 12 Nucleus Microcephaly 11, primary, autosomal recessive 0 PE1 -NX_P78367 34814 333 8.12 4 Nucleoplasm;Nucleus Spondylo-megaepiphyseal-metaphyseal dysplasia 0 PE1 -NX_P78368 47457 415 9.16 19 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_P78369 24488 228 8.32 13 Tight junction;Cell membrane HELIX syndrome 4 PE1 -NX_P78371 57488 535 6.01 12 Cytosol;Cytoplasm NA 0 PE1 -NX_P78380 30959 273 6.94 12 Cytoplasmic vesicle;Nucleoplasm;Membrane raft;Cell membrane;Secreted NA 1 PE1 -NX_P78381 41307 396 9.98 X Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2M 10 PE1 -NX_P78382 36779 337 9.11 6 Golgi apparatus membrane Congenital disorder of glycosylation 2F 10 PE1 -NX_P78383 35760 322 9.36 17 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Nucleus;Endoplasmic reticulum NA 8 PE1 -NX_P78385 54195 493 5.54 12 NA Monilethrix;Erythrokeratodermia variabilis et progressiva 5 0 PE1 -NX_P78386 55802 507 6.27 12 NA Ectodermal dysplasia 4, hair/nail type 0 PE1 -NX_P78395 57890 509 6.44 22 Nucleus;Cell membrane NA 0 PE1 -NX_P78396 52358 465 4.99 13 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_P78406 40968 368 7.96 20 Cytoplasm;Nucleolus;Nucleus;Spindle pole NA 0 PE1 -NX_P78410 36428 334 5.23 6 Cell membrane NA 1 PE1 -NX_P78411 50361 483 6.03 16 Cytosol;Nucleus speckle;Cytoskeleton;Nucleus Hamamy syndrome 0 PE1 -NX_P78412 48240 446 5.81 16 Mitochondrion;Nucleus NA 0 PE2 -NX_P78413 54445 519 5.84 5 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P78414 49621 480 5.78 5 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_P78415 52119 501 4.88 16 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P78417 27566 241 6.24 10 Cytosol NA 0 PE1 -NX_P78423 42203 397 6.08 16 Cell membrane;Secreted NA 1 PE1 -NX_P78424 73265 691 7.31 7 Nucleus Hereditary susceptibility to Wilms tumor 5 0 PE1 -NX_P78426 37849 367 9.46 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_P78504 133799 1218 5.7 20 Golgi apparatus;Cell membrane;Membrane Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot;Alagille syndrome 1 1 PE1 -NX_P78508 42508 379 8.18 1 Basolateral cell membrane;Membrane Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 2 PE1 -NX_P78509 388388 3460 5.54 7 Focal adhesion;Cell membrane;Extracellular matrix Epilepsy, familial temporal lobe, 7;Lissencephaly 2 0 PE1 -NX_P78524 126485 1137 9.35 11 Nucleoplasm NA 0 PE1 -NX_P78527 469089 4128 6.75 8 Nucleoplasm;Nucleolus;Nucleus Immunodeficiency 26 with or without neurologic abnormalities 0 PE1 -NX_P78536 93021 824 5.5 2 Cytosol;Membrane Inflammatory skin and bowel disease, neonatal, 1 1 PE1 -NX_P78537 17263 153 9.37 12 Mitochondrion matrix;Cytosol;Lysosome membrane;Mitochondrion intermembrane space NA 0 PE1 -NX_P78539 51572 464 8.98 X Cell surface NA 0 PE1 -NX_P78540 38578 354 6 14 Mitochondrion NA 0 PE1 -NX_P78543 17416 158 8.29 1 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_P78545 41454 371 5.52 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P78549 34390 312 9.72 16 Mitochondrion;Nucleus Familial adenomatous polyposis 3 0 PE1 -NX_P78552 48760 427 5.7 X Nucleoplasm;Golgi apparatus;Membrane NA 1 PE1 -NX_P78556 10762 96 9.21 2 Secreted NA 0 PE1 -NX_P78559 305485 2803 4.85 15 Cytosol;Cytoskeleton NA 0 PE1 -NX_P78560 22745 199 6.32 12 Cytosol;Cytoplasm;Nucleus Mental retardation, autosomal recessive 34, with variant lissencephaly 0 PE1 -NX_P78562 86474 749 8.91 X Cell membrane Hypophosphatemic rickets, X-linked dominant 1 PE1 -NX_P78563 80763 741 9.11 21 Cytosol;Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P79483 29962 266 8.81 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 -NX_P79522 20640 188 9.87 6 Cytosol;Nucleoplasm NA 0 PE1 -NX_P80075 11246 99 9.47 17 Secreted NA 0 PE1 -NX_P80098 11200 99 9.72 17 Secreted NA 0 PE1 -NX_P80108 92336 840 5.91 6 Secreted NA 0 PE1 -NX_P80162 11897 114 9.91 4 Secreted NA 0 PE1 -NX_P80188 22588 198 9.02 9 Cytoplasmic granule lumen;Cytoplasmic vesicle lumen;Endoplasmic reticulum;Secreted NA 0 PE1 -NX_P80192 121895 1104 5.63 14 Nucleolus;Nucleus NA 0 PE1 -NX_P80217 31546 286 5.75 17 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_P80294 6039 61 8.49 16 NA NA 0 PE1 -NX_P80297 6068 61 8.38 16 Cytoplasm;Nucleus NA 0 PE1 -NX_P80303 50223 420 5.03 11 Golgi apparatus;Secreted;Cytoplasm;Nucleus envelope;Endoplasmic reticulum;Membrane NA 0 PE1 -NX_P80365 44127 405 9.42 16 Cytoplasmic vesicle;Microsome;Endoplasmic reticulum Apparent mineralocorticoid excess 0 PE1 -NX_P80370 41300 383 5.43 14 Cytoplasm;Golgi apparatus;Membrane NA 1 PE1 -NX_P80404 56439 500 8.17 16 Mitochondrion matrix;Mitochondrion GABA transaminase deficiency 0 PE1 -NX_P80511 10575 92 5.83 1 Cytoplasm;Cytoskeleton;Cell membrane;Secreted NA 0 PE1 -NX_P80723 22693 227 4.64 5 Growth cone;Cell membrane NA 0 PE1 -NX_P80748 12446 117 5.03 22 Cell membrane;Secreted NA 0 PE1 -NX_P81133 85515 766 7.03 6 Nucleus speckle;Nucleus NA 0 PE1 -NX_P81172 9408 84 9.24 19 Secreted Hemochromatosis 2B 0 PE1 -NX_P81274 76662 684 5.97 1 Cytosol;Cytoplasm;Cell cortex;Spindle pole;Lateral cell membrane Chudley-McCullough syndrome 0 PE1 -NX_P81277 9639 87 11.66 2 Secreted NA 0 PE1 -NX_P81408 71355 668 8.87 1 Nucleoplasm;Membrane NA 4 PE1 -NX_P81534 7697 67 10.15 8 Nucleus;Secreted NA 0 PE1 -NX_P81605 11284 110 6.09 12 Secreted NA 0 PE1 -NX_P81877 37828 361 6.16 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_P82094 122842 1093 4.88 3 Nucleus;Golgi apparatus membrane;Golgi apparatus;Cytoplasm NA 0 PE1 -NX_P82251 53481 487 8.4 19 Apical cell membrane Cystinuria 12 PE1 -NX_P82279 154183 1406 4.84 1 Cytoplasmic vesicle;Apical cell membrane;Secreted Retinitis pigmentosa 12;Pigmented paravenous chorioretinal atrophy;Leber congenital amaurosis 8 1 PE1 -NX_P82650 41280 360 7.7 3 Mitochondrion Combined oxidative phosphorylation deficiency 5 0 PE1 -NX_P82663 20116 173 8.99 3 Mitochondrion NA 0 PE1 -NX_P82664 22999 201 7.78 6 Mitochondrion;Cytoskeleton NA 0 PE1 -NX_P82673 36844 323 8.41 12 Mitochondrion;Cytosol NA 0 PE1 -NX_P82675 48006 430 9.93 2 Mitochondrion NA 0 PE1 -NX_P82909 11466 103 9.99 5 Mitochondrion NA 0 PE1 -NX_P82912 20616 194 10.82 15 Mitochondrion NA 0 PE1 -NX_P82914 29842 257 10.48 1 Mitochondrion NA 0 PE1 -NX_P82921 10689 87 9.96 1 Mitochondrion NA 0 PE1 -NX_P82930 25650 218 9.98 16 Mitochondrion Combined oxidative phosphorylation deficiency 32 0 PE1 -NX_P82932 14227 125 9.3 21 Mitochondrion NA 0 PE1 -NX_P82933 45835 396 9.54 2 Mitochondrion;Nucleolus NA 0 PE1 -NX_P82970 31525 282 4.5 X Nucleus NA 0 PE1 -NX_P82979 23671 210 6.1 12 Nucleus speckle;Nucleus NA 0 PE1 -NX_P82980 15931 135 6.09 12 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_P82987 188692 1691 8.2 15 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_P83105 50979 476 8.37 8 Secreted NA 0 PE1 -NX_P83110 48608 453 6.71 4 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P83111 60694 547 8.71 15 Mitochondrion NA 0 PE1 -NX_P83369 39500 360 10.99 5 Nucleus NA 0 PE1 -NX_P83436 86344 770 5.27 16 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2E 0 PE1 -NX_P83731 17779 157 11.26 3 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_P83859 14941 136 10.25 9 Secreted NA 0 PE2 -NX_P83876 16786 142 5.53 18 Cytosol;Nucleus;Nucleus membrane Burn-McKeown syndrome 0 PE1 -NX_P83881 12441 106 10.59 X Cytoplasm NA 0 PE1 -NX_P83916 21418 185 4.85 17 Nucleus NA 0 PE1 -NX_P84022 48081 425 6.73 15 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Loeys-Dietz syndrome 3;Colorectal cancer 0 PE1 -NX_P84074 22427 193 4.87 1 Cytosol;Membrane Dystonia 2, torsion, autosomal recessive 0 PE1 -NX_P84077 20697 181 6.31 1 Synaptosome;trans-Golgi network membrane;Golgi apparatus;Cytosol;Cell membrane;Perinuclear region;Membrane;Postsynaptic density NA 0 PE1 -NX_P84085 20530 180 6.3 7 Perinuclear region;trans-Golgi network membrane;Golgi apparatus;Membrane NA 0 PE1 -NX_P84090 12259 104 5.62 14 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P84095 21309 191 8.41 11 Cell membrane NA 0 PE1 -NX_P84098 23466 196 11.48 17 Cytosol;Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_P84101 6900 59 10.44 15 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P84103 19330 164 11.64 6 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_P84157 21466 204 4.24 17 Nucleus;Endoplasmic reticulum;Membrane NA 1 PE1 -NX_P84243 15328 136 11.27 17 Nucleoplasm;Nucleus;Chromosome Glioma 0 PE1 -NX_P84550 99831 965 6.11 15 Nucleus NA 0 PE1 -NX_P84996 67948 626 11.55 20 Ruffle;Cell membrane Pseudohypoparathyroidism 1B;ACTH-independent macronodular adrenal hyperplasia 1;Colorectal cancer;GNAS hyperfunction 0 PE1 -NX_P85037 75457 733 9.41 7 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P85298 53484 464 9.45 22 Nucleus NA 0 PE1 -NX_P85299 42753 388 8.31 22 NA NA 0 PE1 -NX_P86397 18559 168 9.1 3 Mitochondrion;Nucleolus NA 0 PE1 -NX_P86434 17238 159 6.18 22 NA NA 0 PE5 -NX_P86452 109973 979 6.09 1 Nucleolus;Nucleus NA 0 PE1 -NX_P86478 23262 221 5.85 13 NA NA 0 PE1 -NX_P86479 23262 221 5.85 13 NA NA 0 PE1 -NX_P86480 23262 221 5.85 13 NA NA 0 PE1 -NX_P86481 23262 221 5.85 13 NA NA 0 PE3 -NX_P86496 23262 221 5.85 13 NA NA 0 PE2 -NX_P86790 55866 482 6.07 7 Cytoplasmic vesicle;Lysosome membrane NA 0 PE1 -NX_P86791 55866 482 6.07 7 Cytoplasmic vesicle;Lysosome membrane NA 0 PE1 -NX_P87889 74139 666 8.95 5 Cell membrane NA 0 PE1 -NX_P98066 31203 277 6.3 2 NA NA 0 PE1 -NX_P98073 112935 1019 4.89 21 Membrane Enterokinase deficiency 1 PE1 -NX_P98077 61916 582 6.29 19 Cytosol NA 0 PE1 -NX_P98082 82448 770 5.34 5 Nucleolus;Cytoplasm;Clathrin-coated pit;Clathrin-coated vesicle membrane;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_P98088 585570 5654 6.71 11 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P98095 126573 1184 4.73 3 Cell membrane;Extracellular matrix NA 0 PE1 -NX_P98153 60811 550 5.11 22 Nucleoplasm;Nucleus;Membrane NA 1 PE1 -NX_P98155 96098 873 4.62 9 Cytoplasmic vesicle;Cytoskeleton;Microtubule organizing center;Clathrin-coated pit;Membrane Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 1 PE1 -NX_P98160 468830 4391 6.06 1 Cytosol;Nucleoplasm;Basement membrane;Cell membrane Dyssegmental dysplasia Silverman-Handmaker type;Schwartz-Jampel syndrome 0 PE1 -NX_P98161 462529 4303 6.28 16 Endoplasmic reticulum;Golgi apparatus;Cilium;Cell membrane Polycystic kidney disease 1 with or without polycystic liver disease 11 PE1 -NX_P98164 521958 4655 4.89 2 Axon;Apical cell membrane;Cytoplasmic vesicle;Dendrite;Coated pit;Endosome lumen;Mitochondrion Donnai-Barrow syndrome 1 PE1 -NX_P98168 84771 799 7.35 X Nucleus NA 0 PE1 -NX_P98169 84792 803 6.46 X Nucleus NA 0 PE1 -NX_P98170 56685 497 6.22 X Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm Lymphoproliferative syndrome, X-linked, 2 0 PE1 -NX_P98171 105026 946 5.96 X Nucleoplasm;Cytoplasm;Focal adhesion NA 0 PE1 -NX_P98172 38007 346 9.1 X Nucleus;Membrane raft;Cell membrane Craniofrontonasal syndrome 1 PE1 -NX_P98173 25152 230 8.9 X Nucleolus;Nucleus;Endoplasmic reticulum;Secreted NA 0 PE1 -NX_P98174 106561 961 6.14 X Ruffle;Cytosol;Cytoplasm;Cell membrane;Lamellipodium;Cytoskeleton Aarskog-Scott syndrome 0 PE1 -NX_P98175 103533 930 5.69 X Nucleus speckle;Nucleus TARP syndrome 0 PE1 -NX_P98177 53684 505 5.13 X Cytosol;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_P98179 17170 157 8.86 X Nucleoplasm;Cytoplasm;Nucleus;Dendrite NA 0 PE1 -NX_P98182 45534 395 8.64 16 Mitochondrion;Nucleus NA 0 PE1 -NX_P98187 59995 520 8.73 19 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_P98194 100577 919 6.34 3 Golgi apparatus membrane;Golgi apparatus Hailey-Hailey disease 10 PE1 -NX_P98196 129756 1134 6.17 13 Cytoplasmic vesicle;Recycling endosome;Cell membrane;Endoplasmic reticulum;Early endosome NA 10 PE1 -NX_P98198 137440 1209 6.57 1 Endoplasmic reticulum membrane;Cell membrane NA 10 PE1 -NX_P99999 11749 105 9.59 7 Mitochondrion;Nucleus;Mitochondrion intermembrane space Thrombocytopenia 4 0 PE1 -NX_Q00005 51710 443 6.01 5 Mitochondrion;Cytoplasm;Cytoskeleton;Membrane;Mitochondrion outer membrane Spinocerebellar ataxia 12 0 PE1 -NX_Q00013 52296 466 6.91 X Nucleus speckle;Nucleolus;Cytosol;Cytoplasm;Stereocilium;Cell membrane;Nucleus NA 0 PE1 -NX_Q00056 34499 320 9.95 7 Nucleus NA 0 PE1 -NX_Q00059 29097 246 9.74 10 Mitochondrion;Mitochondrion nucleoid Mitochondrial DNA depletion syndrome 15, hepatocerebral type 0 PE1 -NX_Q00169 31806 270 6.12 17 Cytoplasm NA 0 PE1 -NX_Q00266 43648 395 5.86 10 NA Methionine adenosyltransferase deficiency 0 PE1 -NX_Q00325 40095 362 9.45 12 Mitochondrion;Mitochondrion inner membrane Mitochondrial phosphate carrier deficiency 6 PE1 -NX_Q00341 141456 1268 6.43 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q00403 34833 316 8.67 1 Nucleus;Chromosome NA 0 PE1 -NX_Q00444 24976 222 9.57 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q00526 35046 305 8.86 17 Cytosol NA 0 PE1 -NX_Q00532 41803 358 9.04 14 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q00534 36938 326 6.02 7 Ruffle;Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Centrosome Microcephaly 12, primary, autosomal recessive 0 PE1 -NX_Q00535 33304 292 7.57 7 Perikaryon;Cytoplasm;Cell membrane;Growth cone;Nucleus;Postsynaptic density;Lamellipodium;Cell junction Lissencephaly 7, with cerebellar hypoplasia 0 PE1 -NX_Q00536 55716 496 7.23 X Synaptosome;Cytosol;Cytoplasm;Cell membrane;Secretory vesicle;Cytoskeleton NA 0 PE1 -NX_Q00537 59582 523 9.1 12 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q00577 34911 322 6.07 5 Nucleus Mental retardation, autosomal dominant 31 0 PE1 -NX_Q00587 40295 391 6.64 22 Cytoskeleton;Cell membrane;Endomembrane system NA 0 PE1 -NX_Q00597 63429 558 5.77 9 Nucleoplasm;Cytoplasm;Nucleus Fanconi anemia complementation group C 0 PE1 -NX_Q00604 15044 133 9.17 X Cytoplasmic vesicle;Nucleolus;Nucleus;Secreted Vitreoretinopathy, exudative 2;Norrie disease 0 PE1 -NX_Q00610 191615 1675 5.48 17 Melanosome;Cytosol;Cytoplasmic vesicle;Coated pit;Spindle;Cytoplasmic vesicle membrane Mental retardation, autosomal dominant 56 0 PE1 -NX_Q00613 57260 529 5.02 8 Kinetochore;Cytosol;Cytoplasm;Centrosome;Nucleoplasm;Perinuclear region;Nucleus;Spindle pole NA 0 PE1 -NX_Q00653 96749 900 5.84 10 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Immunodeficiency, common variable, 10 0 PE1 -NX_Q00688 25177 224 9.29 14 Cytosol;Nucleus NA 0 PE1 -NX_Q00722 134024 1185 5.96 15 Cytosol NA 0 PE1 -NX_Q00765 21493 189 8.25 5 Endoplasmic reticulum;Membrane NA 2 PE1 -NX_Q00796 38325 357 8.23 15 Cytosol;Flagellum;Mitochondrion membrane NA 0 PE1 -NX_Q00839 90584 825 5.76 1 Kinetochore;Nucleus speckle;Cytoplasmic granule;Nucleoplasm;Cytoplasm;Centrosome;Midbody;Nucleus;Cell surface;Nucleus matrix;Spindle;Spindle pole;Chromosome Epileptic encephalopathy, early infantile, 54 0 PE1 -NX_Q00872 128294 1141 5.78 12 Cytoplasm Lethal congenital contracture syndrome 4;Arthrogryposis, distal, 1B 0 PE1 -NX_Q00887 48272 426 8.27 19 Secreted NA 0 PE1 -NX_Q00888 47113 419 9.34 19 Secreted NA 0 PE1 -NX_Q00889 48814 435 8.86 19 Secreted NA 0 PE1 -NX_Q008S8 104880 904 8.65 6 NA NA 0 PE2 -NX_Q00973 58882 533 8.93 12 Golgi apparatus membrane Spastic paraplegia 26, autosomal recessive 1 PE1 -NX_Q00975 262496 2339 8.78 9 Membrane Dystonia 23 24 PE1 -NX_Q00978 43696 393 5.58 14 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q00987 55233 491 4.6 12 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q00994 12958 111 5.31 X Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q00G26 50791 463 5.08 19 Mitochondrion;Cytoplasm;Lipid droplet NA 0 PE1 -NX_Q00LT1 6007 54 7.96 17 Cytoplasm;Endoplasmic reticulum;Golgi apparatus;Secreted Retinitis pigmentosa 36 0 PE1 -NX_Q01064 61380 536 5.33 12 Cytoplasm NA 0 PE1 -NX_Q01081 27872 240 9.09 21 Nucleoplasm;Nucleus speckle;Nucleus Myelodysplastic syndrome 0 PE1 -NX_Q01082 274609 2364 5.39 2 Cytoplasm;Cytoskeleton;M line;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q01085 41591 375 7.62 10 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytoplasmic granule NA 0 PE1 -NX_Q01094 46920 437 4.79 20 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q01101 52923 510 9.19 20 Nucleus NA 0 PE1 -NX_Q01105 33489 290 4.23 9 Nucleoplasm;Cytosol;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q01113 57147 521 5.27 X Cell membrane;Secreted NA 1 PE1 -NX_Q01118 193493 1682 8.26 2 Cell membrane NA 24 PE1 -NX_Q01130 25476 221 11.86 17 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q01151 23042 205 8.45 6 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q01167 69062 660 9.56 17 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q01196 48737 453 9.4 21 Cytoplasmic vesicle;Nucleoplasm;Nucleus Familial platelet disorder with associated myeloid malignancy 0 PE1 -NX_Q01201 62134 579 5.84 19 Cytosol;Nucleoplasm;Nucleus;Centrosome Immunodeficiency 53 0 PE1 -NX_Q01344 47685 420 5.36 3 Membrane NA 1 PE1 -NX_Q01362 26534 244 5.05 11 Membrane NA 4 PE1 -NX_Q01415 50378 458 6.19 15 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q01432 88812 767 6.51 11 Nucleus membrane Adenosine monophosphate deaminase deficiency erythrocyte type 0 PE1 -NX_Q01433 100688 879 6.46 1 Cytosol Spastic paraplegia 63, autosomal recessive;Pontocerebellar hypoplasia 9 0 PE1 -NX_Q01449 19448 175 4.83 7 NA NA 0 PE1 -NX_Q01453 17891 160 7.75 17 Cell membrane Charcot-Marie-Tooth disease 1A;Hereditary neuropathy with liability to pressure palsies;Charcot-Marie-Tooth disease 1E;Inflammatory demyelinating polyneuropathy;Dejerine-Sottas syndrome 4 PE1 -NX_Q01459 43760 385 6.19 1 Cytosol;Lysosome NA 0 PE1 -NX_Q01469 15164 135 6.6 8 Synapse;Secreted;Cytosol;Cytoplasm;Cell membrane;Nucleus;Postsynaptic density NA 0 PE1 -NX_Q01484 433715 3957 5.03 4 Apical cell membrane;Lysosome;Early endosome;Cell membrane;T-tubule;Postsynaptic cell membrane;Membrane;Mitochondrion;Cytoskeleton;M line;Recycling endosome;Z line Long QT syndrome 4 0 PE1 -NX_Q01518 51901 475 8.24 1 Cytosol;Cell membrane NA 0 PE1 -NX_Q01523 10071 94 8.3 8 Secretory vesicle;Secreted NA 0 PE1 -NX_Q01524 10975 100 5.21 8 Secreted NA 0 PE1 -NX_Q01534 35012 308 5.29 Y Cytoplasm;Nucleus NA 0 PE1 -NX_Q01538 122329 1121 4.81 20 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q01543 50982 452 6.57 11 Nucleus Bleeding disorder, platelet-type 21;Ewing sarcoma 0 PE1 -NX_Q01546 65841 638 8.38 12 NA NA 0 PE1 -NX_Q01581 57294 520 5.22 5 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q01628 14632 133 6.49 11 Lysosome membrane;Endosome;Late endosome membrane;Cell membrane NA 1 PE1 -NX_Q01629 14632 132 6.89 11 Cell membrane NA 1 PE1 -NX_Q01638 63358 556 8.63 2 Cytoplasmic vesicle;Cell membrane;Secreted NA 1 PE1 -NX_Q01650 55010 507 7.9 16 Cytosol;Cytoplasmic vesicle;Apical cell membrane;Cell membrane NA 12 PE1 -NX_Q01658 19444 176 4.69 1 Nucleus NA 0 PE1 -NX_Q01664 38726 338 5.63 16 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q01668 245141 2161 6.32 3 Nucleus membrane;Membrane Sinoatrial node dysfunction and deafness;Primary aldosteronism, seizures, and neurologic abnormalities 24 PE1 -NX_Q01718 33927 297 9.02 18 Cell membrane Glucocorticoid deficiency 1 7 PE1 -NX_Q01726 34706 317 8.78 16 Cell membrane Melanoma, cutaneous malignant 5 7 PE1 -NX_Q01740 60311 532 6.8 1 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_Q01780 100831 885 8.68 1 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q01804 124045 1114 6.25 4 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q01813 85596 784 7.5 10 Cytosol;Cytoplasm NA 0 PE1 -NX_Q01814 136876 1243 5.66 3 Synapse;Cell membrane NA 10 PE1 -NX_Q01826 85957 763 6.1 3 Nucleoplasm;PML body;Nucleus;Nucleus matrix NA 0 PE1 -NX_Q01831 105953 940 9.03 3 Cytoplasm;Nucleus;Cell membrane Xeroderma pigmentosum complementation group C 0 PE1 -NX_Q01844 68478 656 9.37 22 Cytoplasm;Nucleolus;Nucleus;Cell membrane Angiomatoid fibrous histiocytoma;Ewing sarcoma 0 PE1 -NX_Q01850 51855 454 5.01 16 Nucleoplasm NA 0 PE1 -NX_Q01851 42697 419 9.15 13 Cytoplasm;Nucleus NA 0 PE2 -NX_Q01860 38571 360 5.69 6 Cytoplasm;Nucleus NA 0 PE1 -NX_Q01892 28819 262 5.35 19 Cytoplasm;Nucleus NA 0 PE1 -NX_Q01954 110972 994 7 15 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q01955 161813 1670 9.28 2 Cytoplasmic vesicle;Basement membrane;Endoplasmic reticulum Alport syndrome, autosomal dominant;Hematuria, benign familial;Alport syndrome, autosomal recessive 0 PE1 -NX_Q01959 68495 620 6.46 5 Cytoplasmic vesicle;Cell membrane Parkinsonism-dystonia infantile 12 PE1 -NX_Q01968 104205 901 6.13 X Endosome;Photoreceptor outer segment;Cytosol;Early endosome membrane;Clathrin-coated pit;Cytoplasmic vesicle;trans-Golgi network;Phagosome membrane;Cytoskeleton;Cilium Dent disease 2;Lowe oculocerebrorenal syndrome 0 PE1 -NX_Q01970 138799 1234 5.68 11 Nucleoplasm;Membrane NA 0 PE1 -NX_Q01973 104283 937 6.76 1 Axon;Cytoskeleton;Membrane Deafness, autosomal recessive, 108 1 PE1 -NX_Q01974 104757 943 6.1 9 Cell membrane Brachydactyly B1;Robinow syndrome autosomal recessive 1 PE1 -NX_Q01995 22611 201 8.87 11 Cytosol;Cytoplasm;Cytoskeleton;Mitochondrion NA 0 PE1 -NX_Q02040 80735 695 9.76 X Cytosol;Nucleus speckle NA 0 PE1 -NX_Q02045 19534 173 4.87 4 Nucleolus;Nucleus NA 0 PE1 -NX_Q02078 54811 507 7.72 15 Nucleoplasm;Nucleus Coronary artery disease, autosomal dominant, 1 0 PE1 -NX_Q02080 38639 365 9.58 19 Nucleus NA 0 PE1 -NX_Q02083 40066 359 8.88 4 Lysosome NA 0 PE1 -NX_Q02086 64900 613 9.95 17 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q02094 44198 409 6.35 6 Endoplasmic reticulum;Membrane Overhydrated hereditary stomatocytosis;Regulator type Rh-null hemolytic anemia 12 PE1 -NX_Q02108 77452 690 6.75 4 Cytoplasm;Nucleus Moyamoya disease 6 with achalasia 0 PE1 -NX_Q02127 42867 395 9.66 16 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane Postaxial acrofacial dysostosis 1 PE1 -NX_Q02153 70514 619 5.2 4 Cytosol;Cytoplasm NA 0 PE1 -NX_Q02156 83674 737 6.73 2 Cytoplasm;Cell membrane;Cytoplasmic vesicle;Perinuclear region;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q02161 45211 417 8.71 1 Cytoplasm;Cell membrane NA 11 PE1 -NX_Q02218 115935 1023 6.39 7 Mitochondrion;Mitochondrion matrix;Nucleus NA 0 PE1 -NX_Q02221 10815 97 10.91 16 Mitochondrion inner membrane NA 0 PE1 -NX_Q02223 20165 184 5.24 16 Cell membrane;Endomembrane system NA 1 PE1 -NX_Q02224 316415 2701 5.51 4 Kinetochore;Cytosol;Nucleoplasm;Cytoskeleton;Centromere;Spindle Microcephaly 13, primary, autosomal recessive 0 PE1 -NX_Q02241 110059 960 8.76 15 Nucleoplasm;Midbody ring;Spindle;Nucleus NA 0 PE1 -NX_Q02246 113393 1040 8.11 1 Cell membrane Epilepsy, familial adult myoclonic, 5 0 PE1 -NX_Q02252 57840 535 8.72 14 Mitochondrion Methylmalonate semialdehyde dehydrogenase deficiency 0 PE1 -NX_Q02297 70392 640 9 8 Nucleoplasm;Membrane;Nucleus;Cell membrane;Secreted NA 1 PE1 -NX_Q02318 60235 531 9.05 2 Mitochondrion;Mitochondrion membrane Cerebrotendinous xanthomatosis 0 PE1 -NX_Q02325 10971 96 6.11 2 Secreted NA 0 PE3 -NX_Q02338 38157 343 9.1 3 Mitochondrion;Mitochondrion matrix;Mitochondrion inner membrane NA 0 PE1 -NX_Q02363 14917 134 7.82 2 Nucleoplasm;Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q02383 65444 582 9.09 20 Secreted NA 0 PE1 -NX_Q02386 78242 682 8.98 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q02388 295220 2944 5.95 3 Basement membrane Epidermolysis bullosa dystrophica, autosomal recessive;Epidermolysis bullosa dystrophica, with subcorneal cleavage;Epidermolysis bullosa dystrophica, autosomal dominant;Epidermolysis bullosa dystrophica, pretibial type;Epidermolysis bullosa pruriginosa;Epidermolysis bullosa dystrophica, Bart type;Nail disorder, non-syndromic congenital, 8;Transient bullous dermolysis of the newborn 0 PE1 -NX_Q02410 92865 837 4.84 9 Cytoplasm;Perinuclear region;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q02413 113748 1049 4.9 18 Desmosome;Cell membrane Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE;Palmoplantar keratoderma 1, striate, focal, or diffuse 1 PE1 -NX_Q02446 81985 784 6.61 7 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q02447 81925 781 5.09 2 PML body;Nucleus NA 0 PE1 -NX_Q02487 99962 901 5.19 18 Desmosome;Cell membrane Arrhythmogenic right ventricular dysplasia, familial, 11 1 PE1 -NX_Q02505 345127 3323 5.14 7 Secreted;Membrane NA 1 PE1 -NX_Q02509 51728 477 4.76 8 Secreted NA 0 PE2 -NX_Q02535 12999 119 5.55 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q02539 21842 215 10.99 6 Nucleus;Chromosome NA 0 PE1 -NX_Q02543 20762 176 10.72 19 Cytosol;Nucleolus NA 0 PE1 -NX_Q02548 42149 391 9.08 9 Cytoplasmic vesicle;Cytosol;Nucleus;Nucleoplasm Leukemia, acute lymphoblastic, 3 0 PE1 -NX_Q02556 48356 426 6.38 16 Nucleoplasm;Cytoplasm;Nucleus Immunodeficiency 32B;Immunodeficiency 32A 0 PE1 -NX_Q02575 14618 133 9.06 1 Nucleus;Golgi apparatus NA 0 PE2 -NX_Q02577 15018 135 7.91 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q02641 65714 598 6.33 17 Cell membrane;Sarcolemma NA 0 PE1 -NX_Q02643 47402 423 6.26 7 Cell membrane Growth hormone deficiency, isolated, 1B 7 PE1 -NX_Q02742 49799 428 8.65 9 Nucleus speckle;Golgi apparatus membrane NA 1 PE1 -NX_Q02747 12388 115 4.56 1 Secreted NA 0 PE1 -NX_Q02750 43439 393 6.18 15 Cytosol;Cytoplasm;Cell membrane;Spindle pole body;Nucleus;Membrane;Centrosome Cardiofaciocutaneous syndrome 3 0 PE1 -NX_Q02763 125830 1124 6.46 9 Secreted;Cell membrane;Microtubule organizing center;Focal adhesion;Cytoskeleton;Cell junction Dominantly inherited venous malformations;Glaucoma 3, primary congenital, E 1 PE1 -NX_Q02779 103694 954 6.56 19 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q02790 51805 459 5.35 12 Cytosol;Axon;Nucleoplasm;Nucleus;Mitochondrion;Cytoskeleton NA 0 PE1 -NX_Q02809 83550 727 6.46 1 Cytoplasmic vesicle;Nucleoplasm;Rough endoplasmic reticulum membrane Ehlers-Danlos syndrome, kyphoscoliotic type, 1 0 PE1 -NX_Q02817 540300 5179 5.49 11 Secreted NA 0 PE1 -NX_Q02818 53879 461 5.15 19 Cytoplasm;Cytoskeleton;cis-Golgi network membrane;Golgi apparatus;Secreted NA 0 PE1 -NX_Q02833 39945 373 5.5 11 Centrosome;Microtubule organizing center NA 0 PE1 -NX_Q02846 120059 1103 7.15 17 Membrane Leber congenital amaurosis 1;Cone-rod dystrophy 6;Choroidal dystrophy, central areolar, 1 1 PE1 -NX_Q02878 32728 288 10.59 12 Cytosol;Cytoplasm;Cytoskeleton;Rough endoplasmic reticulum NA 0 PE1 -NX_Q02880 183267 1626 8.14 3 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q02928 59348 519 8.96 1 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_Q02930 56918 508 8.76 7 Cytoplasmic vesicle;Nucleus;Cell membrane NA 0 PE1 -NX_Q02952 191482 1782 4.37 6 Cytosol;Cytoplasm;Cell cortex;Cell membrane;Membrane;Cytoskeleton NA 0 PE1 -NX_Q02962 44706 417 7.25 10 Nucleolus;Nucleus;Golgi apparatus Papillorenal syndrome;Focal segmental glomerulosclerosis 7 0 PE1 -NX_Q02978 34062 314 9.92 17 Mitochondrion inner membrane NA 6 PE1 -NX_Q02985 37323 330 7.72 1 Secreted Hemolytic uremic syndrome atypical 1 0 PE1 -NX_Q03001 860662 7570 5.14 6 Endoplasmic reticulum membrane;Stress fiber;Cytosol;Hemidesmosome;H zone;Nucleus envelope;Cell membrane;Axon;Nucleus;Cell cortex;Membrane;Cytoskeleton;Z line Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, 6 0 PE1 -NX_Q03013 25561 218 5.6 1 Cytoplasm NA 0 PE1 -NX_Q03014 30022 270 6.72 10 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q03052 45496 451 7.29 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q03060 37006 345 5.4 10 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q03111 62056 559 8.75 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q03112 138136 1230 6 3 Nucleus speckle;Nucleus Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 PE1 -NX_Q03113 44279 381 9.84 7 Cytosol;Cytoplasm;Cell membrane;Lateral cell membrane NA 0 PE1 -NX_Q03135 20472 178 5.64 7 Golgi apparatus;Cytoplasm;Cell membrane;Nucleus;trans-Golgi network;Caveola;Golgi apparatus membrane;Membrane raft Congenital generalized lipodystrophy 3;Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome;Pulmonary hypertension, primary, 3 0 PE1 -NX_Q03154 45885 408 5.77 3 Cytoplasm Aminoacylase-1 deficiency 0 PE1 -NX_Q03164 431764 3969 9.22 11 Nucleoplasm;Cytosol;Nucleus Wiedemann-Steiner syndrome 0 PE1 -NX_Q03167 93499 851 5.45 1 Cytosol;Extracellular space;Cell membrane;Secreted NA 1 PE1 -NX_Q03169 72661 654 6.06 14 Cytosol;Nucleus;Nucleus membrane;Golgi apparatus NA 0 PE1 -NX_Q03181 49903 441 7.53 6 Nucleus NA 0 PE1 -NX_Q03188 106834 943 9.43 4 Kinetochore;Centromere;Nucleus NA 0 PE1 -NX_Q03252 69948 620 5.5 19 Nucleus inner membrane;Nucleus membrane Partial acquired lipodystrophy;Epilepsy, progressive myoclonic 9 0 PE1 -NX_Q03393 16386 145 6.2 11 Cytosol Hyperphenylalaninemia, BH4-deficient, A 0 PE1 -NX_Q03395 37205 351 5.65 11 Cytosol;Cell membrane;Membrane Retinitis pigmentosa 7 4 PE1 -NX_Q03403 14284 129 5.51 21 Secreted NA 0 PE1 -NX_Q03405 36978 335 6.19 19 Invadopodium membrane;Cell membrane;Secreted NA 0 PE1 -NX_Q03426 42451 396 6.02 12 Cytoplasm;Peroxisome Porokeratosis 3, multiple types;Mevalonic aciduria;Hyperimmunoglobulinemia D and periodic fever syndrome 0 PE1 -NX_Q03431 66361 593 8.25 3 Cell membrane Jansen metaphyseal chondrodysplasia;Enchondromatosis multiple;Eiken skeletal dysplasia;Primary failure of tooth eruption;Chondrodysplasia Blomstrand type 7 PE1 -NX_Q03468 168416 1493 8.28 10 Nucleus De Sanctis-Cacchione syndrome;Cockayne syndrome B;UV-sensitive syndrome 1;Macular degeneration, age-related, 5;Cerebro-oculo-facio-skeletal syndrome 1 0 PE1 -NX_Q03518 87218 808 8.24 6 Endoplasmic reticulum membrane;Endoplasmic reticulum;Microtubule organizing center Bare lymphocyte syndrome 1 10 PE1 -NX_Q03519 75664 686 8.24 6 Endoplasmic reticulum membrane;Nucleus speckle;Endoplasmic reticulum Bare lymphocyte syndrome 1 9 PE1 -NX_Q03591 37651 330 7.39 1 Secreted Hemolytic uremic syndrome atypical 1 0 PE1 -NX_Q03692 66158 680 9.68 6 Endoplasmic reticulum;Extracellular matrix Schmid type metaphyseal chondrodysplasia 0 PE1 -NX_Q03701 120974 1054 5.65 2 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q03721 69767 635 6.56 1 Cytosol;Nucleolus;Membrane NA 6 PE1 -NX_Q03828 47800 476 9.12 2 Nucleus NA 0 PE2 -NX_Q03923 68736 595 9.45 19 Nucleus NA 0 PE1 -NX_Q03924 56376 483 9.46 7 Cytosol;Nucleolus;Nucleus NA 0 PE2 -NX_Q03933 60348 536 4.7 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q03936 68487 586 9.4 7 Nucleus NA 0 PE1 -NX_Q03938 69058 601 9.36 19 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q03989 64074 594 9.34 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q04118 30980 309 10.8 12 Secreted NA 0 PE1 -NX_Q04206 60219 551 5.46 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q04323 33325 297 5.23 11 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q04446 80474 702 5.87 3 Cytosol;Nucleoplasm Glycogen storage disease 4;Polyglucosan body neuropathy, adult form 0 PE1 -NX_Q04609 84331 750 6.5 11 Cytoplasm;Cell membrane NA 1 PE1 -NX_Q04637 175491 1599 5.25 3 Cytosol Parkinson disease 18 0 PE1 -NX_Q04656 163373 1500 5.92 X trans-Golgi network membrane;Golgi apparatus;Cytosol;Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane Distal spinal muscular atrophy, X-linked, 3;Occipital horn syndrome;Menkes disease 8 PE1 -NX_Q04671 92850 838 6.84 15 Melanosome membrane Albinism, oculocutaneous, 2 12 PE1 -NX_Q04695 48106 432 4.97 17 Cytoplasm Steatocystoma multiplex;Pachyonychia congenita 2 0 PE1 -NX_Q04721 265405 2471 4.95 1 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane Hajdu-Cheney syndrome;Alagille syndrome 2 1 PE1 -NX_Q04724 83201 770 6.79 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q04725 79841 743 6.16 19 Focal adhesion;Nucleus NA 0 PE1 -NX_Q04726 83417 772 6.72 15 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q04727 83755 773 7.2 9 Nucleus NA 0 PE1 -NX_Q04741 28039 257 9.85 2 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q04743 28303 252 9.83 10 Nucleus Schizencephaly 0 PE1 -NX_Q04756 70682 655 6.99 4 Secreted NA 0 PE1 -NX_Q04759 81865 706 7.69 10 Cytoplasm;Cell membrane;Microtubule organizing center NA 0 PE1 -NX_Q04760 20778 184 5.12 6 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q04771 57153 509 7.12 2 Cytosol;Nucleolus;Membrane Fibrodysplasia ossificans progressiva 1 PE1 -NX_Q04826 40505 362 6.09 6 Membrane NA 1 PE1 -NX_Q04828 36788 323 8.02 10 Cytoplasm NA 0 PE1 -NX_Q04837 17260 148 9.59 7 Mitochondrion;Mitochondrion nucleoid NA 0 PE1 -NX_Q04844 54697 493 5.15 17 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 4B, fast-channel;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, 4A, slow-channel 4 PE1 -NX_Q04864 68520 619 5.56 2 Nucleus NA 0 PE1 -NX_Q04900 20917 197 8.3 6 Endosome;Lysosome membrane;Secreted;Cell membrane;Endosome membrane;Endoplasmic reticulum Deafness, autosomal dominant, 66 1 PE1 -NX_Q04912 152241 1400 6.09 3 Cytosol;Membrane Nasopharyngeal carcinoma, 3 1 PE1 -NX_Q04917 28219 246 4.76 22 Cytoplasm NA 0 PE1 -NX_Q04941 16691 152 6.8 X Membrane NA 4 PE1 -NX_Q05048 48358 431 6.12 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q05066 23884 204 9.55 Y Cytoplasm;Nucleus;Nucleus speckle 46,XX sex reversal 1;46,XY sex reversal 1 0 PE1 -NX_Q05084 54645 483 5.55 7 Synaptic vesicle membrane;Cytosol;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus membrane;Secretory vesicle membrane NA 0 PE1 -NX_Q05086 100688 875 5.12 15 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Angelman syndrome 0 PE1 -NX_Q05193 97408 864 6.73 9 Nucleoplasm;Cytoplasm;Cytoskeleton Epileptic encephalopathy, early infantile, 31 0 PE1 -NX_Q05195 25254 221 8.68 2 Mitochondrion;Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q05209 88106 780 5.4 7 Cytosol;Cytoplasm;Focal adhesion;Podosome;Cell membrane NA 0 PE1 -NX_Q05215 61623 589 8.74 2 Nucleus NA 0 PE2 -NX_Q05315 16453 142 6.83 19 Cytosol;Cytoplasmic granule NA 0 PE1 -NX_Q05329 65411 585 6.45 10 Cytosol;Cytoplasmic vesicle;Golgi apparatus membrane;Presynaptic cell membrane NA 0 PE1 -NX_Q05397 119233 1052 6.19 8 Cytosol;Cell cortex;Cell membrane;Cytoplasmic vesicle;Focal adhesion;Nucleus;Cytoskeleton;Centrosome NA 0 PE1 -NX_Q05469 116598 1076 6.25 19 Cytosol;Caveola;Cell membrane Lipodystrophy, familial partial, 6 0 PE1 -NX_Q05481 137217 1191 9.45 19 Nucleus NA 0 PE1 -NX_Q05513 67660 592 5.49 1 Endosome;Cytosol;Cytoplasm;Cell membrane;Membrane;Cell junction NA 0 PE1 -NX_Q05516 74274 673 6.02 11 Nuclear body;Nucleus Skeletal defects, genital hypoplasia, and mental retardation 0 PE1 -NX_Q05519 53542 484 10.52 1 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q05586 105373 938 9.03 9 Postsynaptic density;Postsynaptic cell membrane;Cell membrane Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 3 PE1 -NX_Q05639 50470 463 9.11 20 Nucleus Epileptic encephalopathy, early infantile, 33;Mental retardation, autosomal dominant 38 0 PE1 -NX_Q05655 77505 676 7.93 3 Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Endoplasmic reticulum Autoimmune lymphoproliferative syndrome 3 0 PE1 -NX_Q05682 93231 793 5.62 7 Cytoskeleton;Myofibril;Cell membrane;Stress fiber NA 0 PE1 -NX_Q05707 193515 1796 5.16 8 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_Q05823 83533 741 6.2 1 Cytosol;Cytoplasm;Mitochondrion Prostate cancer, hereditary, 1 0 PE1 -NX_Q05901 52729 458 8.15 8 Postsynaptic cell membrane;Cell membrane NA 4 PE2 -NX_Q05923 34400 314 8.24 2 Nucleus;Nucleus membrane NA 0 PE1 -NX_Q05925 40115 392 9.55 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q05932 64609 587 8.17 9 Mitochondrion matrix;Cytoplasm;Mitochondrion inner membrane NA 0 PE1 -NX_Q05940 55713 514 5.69 10 Cytoplasmic vesicle membrane Parkinsonism-dystonia, infantile, 2 12 PE1 -NX_Q05952 15641 138 11.59 16 Nucleus;Chromosome NA 0 PE1 -NX_Q05996 82357 745 6 16 Cell membrane;Extracellular matrix NA 1 PE1 -NX_Q05BQ5 70547 628 7.96 17 Cytosol;Nucleus NA 0 PE1 -NX_Q05BU3 4003 40 11.83 3 NA NA 0 PE5 -NX_Q05BV3 219427 1969 7.87 14 Cytoskeleton NA 0 PE1 -NX_Q05C16 66309 580 9.26 13 Golgi apparatus NA 0 PE2 -NX_Q05D32 52999 466 6.03 15 Nucleoplasm NA 0 PE1 -NX_Q05D60 70977 604 5.87 11 Cytoplasm NA 0 PE1 -NX_Q05DH4 116621 1040 4.76 4 Cytosol NA 0 PE1 -NX_Q06033 99849 890 5.49 3 Secreted NA 0 PE1 -NX_Q06055 14637 141 9.26 12 Mitochondrion membrane NA 2 PE1 -NX_Q06124 68436 597 6.87 12 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus Metachondromatosis;Leukemia, juvenile myelomonocytic;LEOPARD syndrome 1;Noonan syndrome 1 0 PE1 -NX_Q06136 36187 332 6.75 18 Endoplasmic reticulum membrane Erythrokeratodermia variabilis et progressiva 4 2 PE1 -NX_Q06141 19395 175 7.56 2 Secreted NA 0 PE1 -NX_Q06187 76281 659 7.83 X Cytoplasmic vesicle;Cytoplasm;Nucleus;Cell membrane X-linked agammaglobulinemia;X-linked hypogammaglobulinemia and isolated growth hormone deficiency 0 PE1 -NX_Q06190 130278 1150 5.09 3 Golgi apparatus NA 0 PE1 -NX_Q06203 57399 517 6.3 4 Midbody ring NA 0 PE1 -NX_Q06210 78806 699 6.66 2 Nucleolus;Nucleus Myasthenic syndrome, congenital, 12 0 PE1 -NX_Q06250 10039 92 11.65 11 NA NA 0 PE5 -NX_Q06265 48949 439 5.19 4 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Pontocerebellar hypoplasia 1D 0 PE1 -NX_Q06278 147918 1338 6.79 2 Cytoplasm NA 0 PE1 -NX_Q06323 28723 249 5.78 14 NA NA 0 PE1 -NX_Q06330 55637 500 6.8 4 Nucleoplasm;Cytoplasm;Nucleus Adams-Oliver syndrome 3 0 PE1 -NX_Q06413 51221 473 8.14 5 Cytoplasmic vesicle;Nucleoplasm;Sarcoplasm;Nucleus Mental retardation, autosomal dominant 20 0 PE1 -NX_Q06416 38588 359 6.26 8 Nucleus NA 0 PE5 -NX_Q06418 96905 890 5.47 15 Cell membrane NA 1 PE1 -NX_Q06432 25028 222 6.64 17 Sarcolemma NA 4 PE1 -NX_Q06455 67566 604 8.15 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q06481 86956 763 4.73 11 Cytoplasmic vesicle;Nucleus;Cell membrane NA 1 PE1 -NX_Q06495 68937 639 8.99 5 Nucleus speckle;Spindle;Apical cell membrane;Cell membrane Hypercalcemia, infantile, 2;Fanconi renotubular syndrome 2;Nephrolithiasis/osteoporosis, hypophosphatemic, 1 8 PE1 -NX_Q06520 33780 285 5.71 19 Cytosol;Cytoplasm NA 0 PE1 -NX_Q06546 51295 454 4.87 21 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q06547 42483 395 4.77 15 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q06587 42429 406 5.44 6 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q06609 36966 339 5.44 15 Nucleolus;Cytosol;Cytoplasm;Mitochondrion;Perinuclear region;Nucleus;Mitochondrion matrix;Centrosome;Chromosome Fanconi anemia, complementation group R;Breast cancer;Mirror movements 2 0 PE1 -NX_Q06643 25390 244 5.25 6 Centrosome;Membrane NA 1 PE1 -NX_Q06710 48218 450 7.72 2 Nucleoplasm;Nucleus Hypothyroidism, congenital, non-goitrous, 2 0 PE1 -NX_Q06730 94384 810 8.42 10 Nucleus NA 0 PE1 -NX_Q06732 90683 778 8.6 10 Nucleus NA 0 PE1 -NX_Q06787 71174 632 7 X Perikaryon;Presynaptic cell membrane;Centromere;Cajal body;Stress granule;Perinuclear region;Postsynaptic cell membrane;Nucleus;Growth cone;Synaptosome;Synapse;Nucleolus;Filopodium tip;Dendritic spine;Cytosol;Cytoplasm;Cytoplasmic ribonucleoprotein granule;Cell membrane;Axon;Dendrite;Cell projection;Chromosome Premature ovarian failure 1;Fragile X syndrome;Fragile X tremor/ataxia syndrome 0 PE1 -NX_Q06828 43179 376 5.66 1 Extracellular matrix NA 0 PE1 -NX_Q06830 22110 199 8.27 1 Mitochondrion;Cytoplasm;Melanosome NA 0 PE1 -NX_Q06889 42613 387 8.62 8 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q06945 47263 474 6.87 6 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q07000 40863 366 5.92 6 Membrane NA 1 PE1 -NX_Q07001 58895 517 6.12 2 Cytosol;Nucleoplasm;Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 3B, fast-channel;Multiple pterygium syndrome, lethal type;Myasthenic syndrome, congenital, 3A, slow-channel;Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 4 PE1 -NX_Q07002 54424 474 8.84 1 Cytoskeleton NA 0 PE1 -NX_Q07011 27899 255 8.12 1 Nucleolus;Cell membrane;Membrane NA 1 PE1 -NX_Q07020 21634 188 11.73 19 Rough endoplasmic reticulum;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleolus;Nucleus NA 0 PE1 -NX_Q07021 31362 282 4.74 17 Nucleolus;Secreted;Cytoplasm;Cell membrane;Mitochondrion matrix;Nucleus;Mitochondrion Combined oxidative phosphorylation deficiency 33 0 PE1 -NX_Q07065 66022 602 5.63 12 Endoplasmic reticulum membrane;Nucleus speckle;Cytosol;Cell membrane;Perinuclear region;Cytoskeleton NA 1 PE1 -NX_Q07075 109244 957 5.31 4 Cell membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q07092 157751 1604 8.14 1 Cytosol;Cell membrane;Golgi apparatus;Extracellular matrix NA 0 PE1 -NX_Q07108 22559 199 6.16 12 Membrane NA 1 PE1 -NX_Q07157 195459 1748 6.24 15 Gap junction;Golgi apparatus;Cell membrane;Podosome;Cell junction;Tight junction NA 0 PE1 -NX_Q07283 253925 1943 5.73 1 NA Uncombable hair syndrome 3 0 PE1 -NX_Q07325 14019 125 10.39 4 Secreted NA 0 PE1 -NX_Q07326 24890 219 8.88 2 Endoplasmic reticulum membrane NA 6 PE1 -NX_Q07343 83343 736 5.09 1 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q07352 36314 338 8.12 14 Cytoplasm;P-body;Nucleus;Cytoplasmic granule NA 0 PE1 -NX_Q07444 27100 240 8.36 12 Cytoplasmic vesicle;Membrane NA 1 PE2 -NX_Q07507 24005 201 4.7 1 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_Q075Z2 15693 132 6.8 19 Secreted NA 0 PE1 -NX_Q07617 103639 926 6.46 8 Cytosol;Cytoplasm Ciliary dyskinesia, primary, 28 0 PE1 -NX_Q07627 18235 177 5.55 17 NA NA 0 PE2 -NX_Q07654 10181 94 6.52 21 Cytoplasm;Nucleolus;Nucleus;Extracellular matrix NA 0 PE1 -NX_Q07666 48227 443 8.73 1 Nucleoplasm;Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_Q07687 34243 328 9.25 2 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q07699 24707 218 4.88 19 Cell membrane;Secreted Atrial fibrillation, familial, 13;Brugada syndrome 5;Epileptic encephalopathy, early infantile, 52;Generalized epilepsy with febrile seizures plus 1 1 PE1 -NX_Q07812 21184 192 5.08 19 Cytoplasm;Mitochondrion outer membrane NA 1 PE1 -NX_Q07817 26049 233 4.86 20 Synaptic vesicle membrane;Nucleus membrane;Cytosol;Mitochondrion outer membrane;Mitochondrion;Mitochondrion inner membrane;Mitochondrion matrix;Centrosome NA 1 PE1 -NX_Q07820 37337 350 5.51 1 Mitochondrion;Cytoplasm;Nucleoplasm;Membrane NA 1 PE1 -NX_Q07837 78852 685 5.61 2 Mitochondrion;Nucleus;Membrane Hypotonia-cystinuria syndrome;Cystinuria 1 PE1 -NX_Q07864 261518 2286 5.98 12 Nucleus;Cell membrane Colorectal cancer 12;Facial dysmorphism, immunodeficiency, livedo, and short stature 0 PE1 -NX_Q07866 65310 573 5.87 14 Nucleoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol;Cytoskeleton;Growth cone NA 0 PE1 -NX_Q07869 52225 468 5.86 22 Nucleus NA 0 PE1 -NX_Q07889 152464 1333 6.38 2 Cytosol;Nucleolus;Nucleus Noonan syndrome 4;Fibromatosis, gingival, 1 0 PE1 -NX_Q07890 152979 1332 6.39 14 Cytoplasmic vesicle;Nucleoplasm Noonan syndrome 9 0 PE1 -NX_Q07912 114569 1038 6.84 3 Endosome;Cytosol;Clathrin-coated pit;Cell membrane;Perinuclear region;Nucleus;Adherens junction;Cytoplasmic vesicle membrane;Clathrin-coated vesicle NA 0 PE1 -NX_Q07954 504606 4544 5.16 12 Nucleoplasm;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Coated pit;Nucleus Keratosis pilaris atrophicans 1 PE1 -NX_Q07955 27745 248 10.37 17 Nucleoplasm;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q07960 50436 439 5.85 11 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q07973 58875 514 8.94 20 Mitochondrion;Nucleoplasm;Cell membrane Hypercalcemia, infantile, 1 0 PE1 -NX_Q08043 103241 901 5.37 11 NA NA 0 PE1 -NX_Q08050 84283 763 8 12 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q08116 23858 209 8.8 1 Cytosol;Cell membrane NA 0 PE1 -NX_Q08117 21970 197 5.9 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q08170 56678 494 11.52 1 Nucleus speckle NA 0 PE1 -NX_Q08174 114743 1060 4.91 5 Nucleolus;Nucleus;Cell junction;Cell membrane NA 1 PE1 -NX_Q08188 76632 693 5.62 20 Cytoplasm Uncombable hair syndrome 2 0 PE1 -NX_Q08209 58688 521 5.58 4 Sarcolemma;Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Dendritic spine;Z line Epileptic encephalopathy, infantile or early childhood, 1 0 PE1 -NX_Q08211 140958 1270 6.41 1 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Centrosome NA 0 PE1 -NX_Q08257 35207 329 8.56 1 Cytosol;Cytoplasm NA 0 PE1 -NX_Q08289 73581 660 8.11 10 Sarcolemma Brugada syndrome 4 0 PE1 -NX_Q08334 36995 325 5.03 21 Cytosol;Membrane Inflammatory bowel disease 25 1 PE1 -NX_Q08345 101128 913 6.38 6 Nucleoplasm;Cell junction;Cell membrane;Secreted NA 1 PE1 -NX_Q08357 70392 652 6.09 8 Cytoplasm;Cell membrane Basal ganglia calcification, idiopathic, 1 12 PE1 -NX_Q08378 167355 1498 5.34 12 Cytoplasm;Nucleus;Golgi apparatus;Golgi stack membrane NA 0 PE1 -NX_Q08379 113086 1002 5 9 cis-Golgi network membrane;Spindle pole;Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 0 PE1 -NX_Q08380 65331 585 5.13 17 Extracellular matrix;Secreted NA 0 PE1 -NX_Q08397 63110 574 7.25 15 Extracellular space;Endoplasmic reticulum Exfoliation syndrome 0 PE1 -NX_Q08426 79495 723 9.24 3 Peroxisome Fanconi renotubular syndrome 3 0 PE1 -NX_Q08431 43105 387 8.47 15 Cytosol;Cytoplasm;Membrane;Nucleus;Secreted NA 0 PE1 -NX_Q08462 123603 1091 8.4 5 Cytoplasm;Cell membrane;Membrane NA 12 PE1 -NX_Q08477 59847 520 7.57 19 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_Q08493 79902 712 5.06 19 Cilium NA 0 PE1 -NX_Q08495 45514 405 8.94 8 Cytosol;Cytoplasm;Cell membrane;Endomembrane system;Perinuclear region;Membrane;Cytoskeleton;Cell projection NA 0 PE1 -NX_Q08499 91115 809 5.31 5 Apical cell membrane;Nucleus membrane;Cytosol;Cytoplasm;Cell membrane;Membrane;Cytoskeleton;Centrosome Acrodysostosis 2, with or without hormone resistance 0 PE1 -NX_Q08554 99987 894 5.25 18 Desmosome;Cell membrane NA 1 PE1 -NX_Q08623 25249 228 5.18 X NA NA 0 PE1 -NX_Q08629 49124 439 5.74 5 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_Q08648 11431 103 11.49 8 Secreted NA 0 PE1 -NX_Q08708 24830 224 9.38 17 Cell membrane NA 1 PE2 -NX_Q08722 35214 323 6.82 3 Cytoplasmic vesicle;Golgi apparatus;Cell membrane NA 5 PE1 -NX_Q08752 40764 370 6.77 4 Cytosol;Cytoplasm;Nucleolus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q08828 123440 1119 8.77 7 Mitochondrion;Cytoplasm;Membrane raft;Cell membrane;Membrane Deafness, autosomal recessive, 44 12 PE1 -NX_Q08830 36379 312 5.58 8 Secreted NA 0 PE1 -NX_Q08881 71831 620 7.51 5 Cytoplasm;Nucleus Lymphoproliferative syndrome 1 0 PE1 -NX_Q08945 81075 709 6.45 11 Cytosol;Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_Q08999 128367 1139 7.27 16 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q08AD1 168089 1489 6.36 1 Cytosol;Cytoskeleton;Golgi apparatus NA 0 PE1 -NX_Q08AE8 85544 756 8.89 18 Endosome;Nucleoplasm;Cell membrane;Cytosol;Perinuclear region;Cytoplasmic vesicle membrane;Cytoskeleton NA 0 PE1 -NX_Q08AF3 101055 891 8.54 17 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q08AF8 48405 430 5.41 15 NA NA 0 PE5 -NX_Q08AG5 76934 666 9.14 19 Nucleus NA 0 PE1 -NX_Q08AG7 8479 82 4.76 13 Spindle;Centrosome NA 0 PE1 -NX_Q08AH1 65273 577 8.54 16 Mitochondrion matrix NA 0 PE1 -NX_Q08AH3 64223 577 8.34 16 Mitochondrion matrix NA 0 PE1 -NX_Q08AI6 44825 406 6.12 2 Membrane NA 10 PE2 -NX_Q08AI8 49565 447 6.02 2 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q08AM6 87973 782 5.76 16 Cytoplasmic vesicle;Endosome membrane;Cytosol;Microsome membrane Striatonigral degeneration, childhood-onset 0 PE1 -NX_Q08AN1 90273 781 9.66 19 Nucleus;Centrosome NA 0 PE1 -NX_Q08E93 13507 113 11.89 9 NA NA 0 PE1 -NX_Q08ER8 68404 600 8.18 19 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q08ET2 43970 396 8.24 19 Cell membrane NA 1 PE1 -NX_Q08J23 86471 767 6.33 5 Spindle;Nucleolus;Nucleus Mental retardation, autosomal recessive 5 0 PE1 -NX_Q09013 69385 629 4.92 19 Endoplasmic reticulum membrane;Nucleus outer membrane;Cytosol;Sarcoplasmic reticulum membrane;Cell membrane;Mitochondrion outer membrane;Cytoplasmic vesicle;Mitochondrion membrane Dystrophia myotonica 1 1 PE1 -NX_Q09019 70438 674 6.9 19 Perikaryon;Cytoskeleton;Nucleus;Cell membrane;Dendrite NA 0 PE1 -NX_Q09028 47656 425 4.74 1 Nucleus NA 0 PE1 -NX_Q09160 40792 365 5.9 6 Membrane NA 1 PE1 -NX_Q09161 91839 790 5.99 9 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q09327 61313 533 8.54 22 Golgi apparatus membrane NA 1 PE1 -NX_Q09328 84543 741 8.41 2 Golgi apparatus membrane;Secreted NA 1 PE1 -NX_Q09428 176992 1581 7.99 11 Cytosol;Nucleolus;Golgi apparatus;Cell membrane Transient neonatal diabetes mellitus 2;Diabetes mellitus, permanent neonatal;Leucine-induced hypoglycemia;Familial hyperinsulinemic hypoglycemia 1 17 PE1 -NX_Q09470 56466 495 5.08 12 Axon;Synapse;Perikaryon;Endoplasmic reticulum;Cytoplasmic vesicle;Dendrite;Cell membrane;Presynaptic cell membrane;Membrane;Cell junction Episodic ataxia 1;Myokymia isolated 1 6 PE1 -NX_Q09472 264161 2414 8.81 22 Nucleoplasm;Cytoplasm;Nucleus;Chromosome Rubinstein-Taybi syndrome 2 0 PE1 -NX_Q09666 629101 5890 5.8 11 Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q09FC8 68798 603 9.16 19 Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_Q09MP3 133907 1159 7.11 2 NA NA 0 PE1 -NX_Q0D2H9 48423 430 5.41 15 NA NA 0 PE5 -NX_Q0D2I5 61979 559 4.83 12 NA NA 0 PE1 -NX_Q0D2J5 46099 394 9.32 19 Nucleus NA 0 PE2 -NX_Q0D2K0 50058 466 7.09 5 Membrane Ichthyosis, congenital, autosomal recessive 6 9 PE1 -NX_Q0D2K2 63976 578 5.59 2 Microtubule organizing center NA 0 PE1 -NX_Q0D2K3 16379 151 4.32 X Nucleus NA 0 PE1 -NX_Q0D2K5 21632 195 8.36 3 NA NA 0 PE5 -NX_Q0GE19 37432 340 9.68 4 Endoplasmic reticulum membrane;Nucleolus;Cell membrane NA 10 PE1 -NX_Q0IIM8 128709 1120 5.66 X Cytosol NA 0 PE1 -NX_Q0IIN9 22478 211 8.78 8 NA NA 0 PE5 -NX_Q0JRZ9 88924 810 6.42 5 Cytoplasmic vesicle;Cytosol;Clathrin-coated pit;Centrosome NA 0 PE1 -NX_Q0P140 8416 79 4.93 1 NA NA 0 PE5 -NX_Q0P5N6 20936 197 8.57 17 NA NA 0 PE1 -NX_Q0P5P2 13463 114 9.39 17 Secreted NA 0 PE1 -NX_Q0P641 22038 193 9.47 2 Golgi apparatus NA 0 PE2 -NX_Q0P651 46954 414 9.37 4 Nucleus membrane;Secreted NA 0 PE1 -NX_Q0P670 57131 501 9.69 17 Membrane NA 1 PE1 -NX_Q0P6D2 46420 419 6.38 18 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q0P6D6 110484 951 6.05 11 Cytosol;Cell membrane NA 0 PE1 -NX_Q0P6H9 73133 643 9.34 15 Cytosol;Nucleolus;Nucleus;Membrane NA 6 PE1 -NX_Q0PNE2 29793 266 6.36 3 Cytosol;Nucleus;Centrosome NA 0 PE1 -NX_Q0VAA2 54535 488 5.22 14 NA NA 0 PE1 -NX_Q0VAA5 34777 305 9.51 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q0VAF6 14405 134 8.11 19 Secretory vesicle membrane NA 0 PE1 -NX_Q0VAK6 64914 560 5.42 3 A band;Cytoplasm;Cytoskeleton;M line Nemaline myopathy 10 0 PE1 -NX_Q0VAM2 55359 473 8.19 4 Nucleoplasm;Cytoplasmic vesicle;Late endosome;Midbody;Early endosome NA 0 PE1 -NX_Q0VAQ4 10679 97 4.21 12 Nucleoplasm;Cytoplasmic vesicle membrane;Cell membrane NA 1 PE1 -NX_Q0VD83 114874 1088 4.38 16 Cell membrane NA 0 PE1 -NX_Q0VD86 26817 236 6.92 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q0VDD5 6478 57 11.21 17 NA NA 0 PE5 -NX_Q0VDD7 69556 668 4.71 19 Nucleoplasm NA 0 PE1 -NX_Q0VDD8 399895 3507 6.52 1 Centrosome;Cilium axoneme NA 0 PE1 -NX_Q0VDE8 9465 80 4.68 20 Nucleus;Membrane NA 1 PE2 -NX_Q0VDF9 54794 509 5.41 10 Cytosol NA 0 PE1 -NX_Q0VDG4 48544 424 5.38 2 Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q0VDI3 24217 215 8.91 5 Nucleoplasm;Membrane NA 3 PE1 -NX_Q0VF49 135305 1180 8.53 2 NA NA 0 PE1 -NX_Q0VF96 149079 1302 5.51 15 Cell junction;Tight junction Aromatase excess syndrome 0 PE1 -NX_Q0VFX4 18056 171 8.78 12 NA NA 0 PE2 -NX_Q0VFZ6 66403 552 8.92 2 NA NA 0 PE1 -NX_Q0VG06 93433 881 5.12 17 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q0VG73 10763 95 6.38 3 NA NA 0 PE5 -NX_Q0VG99 41760 397 7.05 15 Nucleus Spondylocostal dysostosis 2, autosomal recessive 0 PE1 -NX_Q0VGE8 75725 651 9.44 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q0VGL1 10741 99 6.07 7 Cytoplasmic vesicle;Lysosome NA 0 PE1 -NX_Q0WX57 59711 530 8.35 4 Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_Q0Z7S8 15093 132 7.79 8 Cytoplasm NA 0 PE1 -NX_Q0ZGT2 80658 675 5.31 1 Cytoplasm;Cytoskeleton;Z line;Cell membrane;Adherens junction Cardiomyopathy, dilated 1CC;Cardiomyopathy, familial hypertrophic 20 0 PE1 -NX_Q0ZLH3 39913 352 9.18 2 Mitochondrion Deafness, autosomal recessive, 59 0 PE1 -NX_Q10469 51550 447 8.99 14 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2A 1 PE1 -NX_Q10471 64733 571 8.63 1 Golgi stack membrane;Golgi apparatus;Secreted NA 1 PE1 -NX_Q10472 64219 559 7.83 18 Golgi stack membrane;Secreted NA 1 PE1 -NX_Q10567 104637 949 4.94 22 Cytoplasmic vesicle;Clathrin-coated vesicle membrane;Golgi apparatus NA 0 PE1 -NX_Q10570 160884 1443 5.99 8 Nucleoplasm NA 0 PE1 -NX_Q10571 136001 1320 6.22 22 Nucleoplasm NA 0 PE1 -NX_Q10586 34349 325 9.34 19 Nucleus NA 0 PE1 -NX_Q10587 33248 303 5.81 22 Nucleus NA 0 PE1 -NX_Q10588 35724 318 7.97 4 Cell membrane NA 0 PE1 -NX_Q10589 19769 180 5.43 19 Apical cell membrane;Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Late endosome;trans-Golgi network;Membrane raft NA 1 PE1 -NX_Q10713 58253 525 6.45 9 Mitochondrion matrix;Mitochondrion;Mitochondrion inner membrane Spinocerebellar ataxia, autosomal recessive, 2 0 PE1 -NX_Q107X0 14401 134 9.73 19 Cytoplasm;Nucleus NA 0 PE5 -NX_Q10981 39017 343 8.69 19 Cytosol;Golgi stack membrane;Cell membrane NA 1 PE1 -NX_Q11128 43008 374 8.54 19 Golgi stack membrane NA 1 PE2 -NX_Q11130 39239 342 10.07 9 Golgi stack membrane;Golgi apparatus NA 1 PE1 -NX_Q11201 39075 340 9.21 8 Golgi stack membrane;Secreted NA 1 PE1 -NX_Q11203 42171 375 9.1 1 Golgi stack membrane;Secreted Epileptic encephalopathy, early infantile, 15;Mental retardation, autosomal recessive 12 1 PE1 -NX_Q11206 38045 333 9.45 11 Golgi stack membrane;Secreted NA 1 PE1 -NX_Q12756 191064 1690 5.86 2 Cytosol;Cytoskeleton;Microtubule organizing center Mental retardation, autosomal dominant 9;Spastic paraplegia 30, autosomal recessive;Neuropathy, hereditary sensory, 2C 0 PE1 -NX_Q12765 46382 414 4.66 7 Cytosol;Cytoplasm NA 0 PE1 -NX_Q12766 168334 1538 8.39 5 Nucleolus;Nucleus NA 0 PE1 -NX_Q12767 151151 1356 5.99 17 Membrane NA 10 PE1 -NX_Q12768 134286 1159 6.54 8 Cytosol;Nucleoplasm;Endoplasmic reticulum;Early endosome Spastic paraplegia 8, autosomal dominant;Ritscher-Schinzel syndrome 1 0 PE1 -NX_Q12769 162121 1436 5.31 11 Nuclear pore complex NA 0 PE1 -NX_Q12770 139729 1279 6.41 3 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Golgi apparatus membrane NA 8 PE1 -NX_Q12772 123688 1141 8.72 22 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Mitochondrion;Golgi apparatus membrane NA 2 PE1 -NX_Q12774 176799 1597 5.37 7 Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus;Podosome NA 0 PE1 -NX_Q12778 69662 655 6.28 13 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Rhabdomyosarcoma 2 0 PE1 -NX_Q12788 89035 808 6.44 16 Nucleolus NA 0 PE1 -NX_Q12789 238875 2109 7.01 16 Nucleolus;Nucleus NA 0 PE1 -NX_Q12791 137560 1236 6.66 10 Cell membrane Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 7 PE1 -NX_Q12792 40283 350 6.48 12 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q12794 48368 435 6.31 3 Secreted;Lysosome Mucopolysaccharidosis 9 0 PE1 -NX_Q12796 35225 327 10.51 6 Nucleolus;Nucleus NA 0 PE1 -NX_Q12797 85863 758 4.92 8 Endoplasmic reticulum membrane;Endoplasmic reticulum;Sarcoplasmic reticulum membrane Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs 1 PE1 -NX_Q12798 19570 172 4.79 18 Centrosome NA 0 PE1 -NX_Q12799 38267 353 8.46 6 NA NA 0 PE1 -NX_Q12800 57256 502 5.53 12 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q12802 307550 2813 5.12 15 Cytosol;Cytoplasm;Nucleus;Cell cortex;Membrane NA 0 PE1 -NX_Q12805 54641 493 4.95 2 Mitochondrion;Extracellular space;Extracellular matrix Doyne honeycomb retinal dystrophy 0 PE1 -NX_Q12809 126655 1159 8.2 7 Cell membrane Short QT syndrome 1;Long QT syndrome 2 6 PE1 -NX_Q12815 83857 778 7.2 12 Cytoplasm NA 0 PE1 -NX_Q12816 143716 1431 9.18 X Nucleolus;Nucleus NA 0 PE1 -NX_Q12824 44141 385 5.86 22 Nucleoplasm;Nucleolus;Nucleus Rhabdoid tumor predisposition syndrome 1;Schwannomatosis 1;Coffin-Siris syndrome 3 0 PE1 -NX_Q12829 30956 278 9.68 17 Cell membrane NA 0 PE1 -NX_Q12830 338262 3046 6.15 17 Cytoplasm;Nucleus Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 PE1 -NX_Q12834 54723 499 9.33 1 Cytosol;Nucleus;Centrosome;Spindle pole NA 0 PE1 -NX_Q12836 59400 540 6.23 1 Cell membrane;Extracellular matrix NA 1 PE1 -NX_Q12837 43087 409 9.33 4 Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q12840 117378 1032 5.65 12 Cytosol;Cytoskeleton;Spindle;Perinuclear region;Nucleoplasm Myoclonus, intractable, neonatal;Amyotrophic lateral sclerosis 25;Spastic paraplegia 10, autosomal dominant 0 PE1 -NX_Q12841 34986 308 5.39 3 Cytosol;Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q12846 34180 297 5.92 16 Cell membrane NA 1 PE1 -NX_Q12849 53126 480 5.83 4 Mitochondrion;Cytoplasm;Mitochondrion nucleoid NA 0 PE1 -NX_Q12851 91556 820 5.91 11 Cytoplasmic vesicle;Cytoplasm;Basolateral cell membrane;Golgi apparatus membrane NA 0 PE1 -NX_Q12852 93219 859 6.03 12 Cytoplasm;Nucleus;Cell junction;Cell membrane NA 0 PE1 -NX_Q12857 55944 509 8.66 1 Nucleoplasm;Nucleus Brain malformations with or without urinary tract defects 0 PE1 -NX_Q12860 113320 1018 5.62 12 Cell membrane Myopathy, congenital, Compton-North 0 PE1 -NX_Q12864 92219 832 4.99 8 Cell junction;Cell membrane NA 1 PE1 -NX_Q12866 110249 999 5.51 2 Cytosol;Cell membrane;Endoplasmic reticulum;Membrane Retinitis pigmentosa 38 1 PE1 -NX_Q12870 20816 199 9.97 20 Nucleus speckle;Nucleus NA 0 PE2 -NX_Q12872 104822 951 8.11 12 Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q12873 226592 2000 6.92 17 Nucleolus;Nucleus;Centrosome;Microtubule organizing center NA 0 PE1 -NX_Q12874 58849 501 5.27 1 Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_Q12879 165283 1464 6.67 16 Postsynaptic cell membrane;Cell membrane Epilepsy, focal, with speech disorder and with or without mental retardation 3 PE1 -NX_Q12882 111401 1025 6.8 1 Cytoplasm Dihydropyrimidine dehydrogenase deficiency 0 PE1 -NX_Q12884 87713 760 6.21 2 Invadopodium membrane;Secreted;Cytoplasm;Cell membrane;Lamellipodium membrane;Ruffle membrane;Membrane;Cell surface NA 1 PE1 -NX_Q12887 48910 443 9.36 17 Cytosol;Mitochondrion;Nucleolus;Mitochondrion membrane Mitochondrial complex IV deficiency;Leigh syndrome 7 PE1 -NX_Q12888 213574 1972 4.62 15 Kinetochore;Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q12889 75421 678 8.9 1 Secretory vesicle NA 0 PE1 -NX_Q12891 53860 473 8.47 3 Cell membrane NA 0 PE1 -NX_Q12893 38197 351 8.31 3 Golgi stack membrane;Golgi apparatus NA 4 PE1 -NX_Q12894 54814 506 8.21 3 Nucleoplasm NA 0 PE1 -NX_Q12899 62166 539 4.98 6 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q12901 62081 538 8.81 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q12904 34353 312 8.61 4 Cytosol;Nucleus;Golgi apparatus;Endoplasmic reticulum;Secreted Leukodystrophy, hypomyelinating, 3 0 PE1 -NX_Q12905 43062 390 5.19 1 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q12906 95338 894 8.86 19 Mitochondrion;Cytoplasm;Nucleolus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q12907 40229 356 6.46 5 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE1 -NX_Q12908 37714 348 6.79 13 Membrane Primary bile acid malabsorption 7 PE1 -NX_Q12912 62122 555 5.62 12 Endoplasmic reticulum membrane;Cytosol;Cytoplasm;Nucleus envelope;Centrosome;Cytoplasmic vesicle;Nucleus;Membrane;Spindle pole;Chromosome NA 1 PE1 -NX_Q12913 145941 1337 5.38 11 Cell membrane;Cell junction;Ruffle membrane NA 1 PE1 -NX_Q12918 25415 225 5.95 12 Cytosol;Nucleoplasm;Membrane NA 1 PE1 -NX_Q12923 276906 2485 5.99 4 Cytosol;Lamellipodium;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 -NX_Q12926 39504 359 9.22 9 NA NA 0 PE1 -NX_Q12929 91882 822 7.1 12 Synaptosome;Golgi apparatus;Stereocilium;Cell cortex;Ruffle membrane;Growth cone Deafness, autosomal recessive, 102 0 PE1 -NX_Q12931 80110 704 8.3 16 Mitochondrion matrix;Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_Q12933 55859 501 7.66 9 Cytosol;Cytoplasm NA 0 PE1 -NX_Q12934 74544 665 5.09 20 Cytosol;Cytoskeleton;Cell cortex;Cell membrane Cataract 33, multiple types 0 PE1 -NX_Q12946 40122 379 9.24 16 Nucleoplasm;Nucleus Alveolar capillary dysplasia with misalignment of pulmonary veins 0 PE1 -NX_Q12947 45993 444 9.2 6 Nucleus NA 0 PE1 -NX_Q12948 56789 553 8.7 6 Nucleoplasm;Cytosol;Nucleus Axenfeld-Rieger syndrome 3;Anterior segment dysgenesis 3 0 PE1 -NX_Q12950 47309 439 9.38 9 Nucleus NA 0 PE2 -NX_Q12951 40973 378 5.89 5 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 -NX_Q12952 36490 345 9.64 16 Nucleus NA 0 PE1 -NX_Q12955 480410 4377 6.07 10 Golgi apparatus;Lysosome;Cell membrane;Axon;Postsynaptic cell membrane;Sarcolemma;Cytoskeleton Mental retardation, autosomal recessive 37 0 PE1 -NX_Q12959 100455 904 5.51 3 Endoplasmic reticulum membrane;Synapse;Apical cell membrane;Basolateral cell membrane;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Sarcolemma;Membrane;Postsynaptic density;Cell junction NA 0 PE1 -NX_Q12962 21711 218 6.12 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q12965 127062 1108 9.01 15 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Clathrin-coated vesicle;Cell junction Focal segmental glomerulosclerosis 6 0 PE1 -NX_Q12967 100607 914 5.52 9 Cytoplasm;Nucleus NA 0 PE1 -NX_Q12968 115594 1075 5.91 16 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q12972 38479 351 6.87 1 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q12974 19127 167 8.67 1 Cytoplasm;Cell membrane;Early endosome NA 0 PE1 -NX_Q12979 97598 859 6.12 17 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q12980 63605 569 6.5 16 Cytosol;Lysosome membrane Epilepsy, familial focal, with variable foci 3 0 PE1 -NX_Q12981 26132 228 9.06 5 Endoplasmic reticulum membrane;Endoplasmic reticulum;Mitochondrion membrane NA 1 PE1 -NX_Q12982 36018 314 4.7 15 Cytoplasm;Perinuclear region NA 0 PE1 -NX_Q12983 27832 259 6.66 10 Cytosol;Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_Q12986 124395 1120 8.67 9 Cytosol;Nucleus NA 0 PE1 -NX_Q12988 16966 150 5.66 5 Cytoplasm;Nucleus Neuronopathy, distal hereditary motor, 2C 0 PE1 -NX_Q12996 82922 717 8.26 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q12999 23053 210 8.3 12 Membrane NA 4 PE1 -NX_Q13002 102583 908 8.05 6 Postsynaptic cell membrane;Cell membrane Mental retardation, autosomal recessive 6 3 PE1 -NX_Q13003 104037 919 7.28 1 Postsynaptic cell membrane;Cell membrane NA 3 PE1 -NX_Q13007 23825 206 8.95 1 Secreted NA 0 PE1 -NX_Q13009 177508 1591 6.17 21 Nucleolus;Nucleus membrane;Cytosol;Cell membrane;Nucleus;Cytoskeleton;Cell junction NA 0 PE1 -NX_Q13011 35816 328 8.16 19 Mitochondrion;Peroxisome NA 0 PE1 -NX_Q13015 10061 90 4.39 1 Cytosol;Cytoplasm;Nucleus;Centrosome;Nucleoplasm NA 0 PE1 -NX_Q13017 172460 1502 6.18 14 Cytosol;Cytoplasm;Endoplasmic reticulum;Cell membrane NA 0 PE1 -NX_Q13018 168600 1463 5.73 2 Cytosol;Cell membrane;Secreted NA 1 PE1 -NX_Q13021 17350 153 6.15 2 Membrane NA 4 PE1 -NX_Q13023 256720 2319 4.9 14 Sarcoplasmic reticulum;Nucleus membrane NA 0 PE1 -NX_Q13029 188915 1718 7.02 1 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q13033 87209 797 5.17 14 Nucleoplasm;Cytoplasm;Cytoskeleton;Cytosol;Membrane NA 0 PE1 -NX_Q13042 71656 620 5.55 13 Cytoplasm;Spindle;Centrosome NA 0 PE1 -NX_Q13043 55630 487 4.97 20 Cytosol;Cytoplasm;Nucleus;Nucleoplasm T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations 0 PE1 -NX_Q13045 144751 1269 5.75 17 Cytosol;Microtubule organizing center;Nucleoplasm;Focal adhesion;Nucleus;Cytoskeleton;Centrosome NA 0 PE1 -NX_Q13046 47027 419 8.65 19 Secreted NA 0 PE5 -NX_Q13049 71989 653 6.59 9 Cytoplasm;Cytoskeleton Bardet-Biedl syndrome 11;Limb-girdle muscular dystrophy 2H 0 PE1 -NX_Q13057 62329 564 6.51 17 Mitochondrion matrix;Cytoplasm;Cytosol;Nucleoplasm Neurodegeneration with brain iron accumulation 6 0 PE1 -NX_Q13061 81595 729 9.42 6 Cytosol;Cell membrane;Sarcoplasmic reticulum membrane Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 1 PE1 -NX_Q13064 55645 507 5.52 15 Nucleoplasm;Cytosol;Cell membrane Precocious puberty, central 2 0 PE1 -NX_Q13065 15610 139 4.39 X NA NA 0 PE1 -NX_Q13066 12786 116 4.34 X NA NA 0 PE1 -NX_Q13068 12885 117 4.12 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q13069 12924 117 4.19 X NA NA 0 PE1 -NX_Q13070 12892 117 4.19 X NA NA 0 PE1 -NX_Q13072 4810 43 5 13 Secreted NA 0 PE2 -NX_Q13075 159582 1403 5.68 5 NA NA 0 PE1 -NX_Q13077 46164 416 5.77 9 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q13084 30157 256 8.34 16 Mitochondrion NA 0 PE1 -NX_Q13085 265554 2346 5.95 17 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus Acetyl-CoA carboxylase 1 deficiency 0 PE1 -NX_Q13087 58206 525 4.89 16 Cytosol;Nucleoplasm;Endoplasmic reticulum lumen NA 0 PE1 -NX_Q13093 50077 441 7.23 6 Cytoplasmic vesicle;Extracellular space Atopic hypersensitivity;Asthma;Platelet-activating factor acetylhydrolase deficiency 0 PE1 -NX_Q13094 60188 533 5.89 5 Cytoplasm NA 0 PE1 -NX_Q13098 55537 491 6.3 17 Cytoplasm;Nucleus NA 0 PE1 -NX_Q13099 94270 833 6.2 13 Flagellum;Cytoplasm;Centrosome;Centriole;Cilium;Cilium basal body NA 0 PE1 -NX_Q13103 24338 211 8.59 2 Secreted NA 0 PE1 -NX_Q13105 87928 803 6 1 Nucleus NA 0 PE1 -NX_Q13106 49865 437 9.11 19 Nucleus NA 0 PE2 -NX_Q13107 108565 963 5.47 3 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q13111 106910 956 5.69 19 Cytosol;Nucleus NA 0 PE1 -NX_Q13112 61493 559 7.18 21 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q13113 12227 114 4.79 1 Cytosol;Nucleus speckle;Membrane NA 1 PE1 -NX_Q13114 64490 568 8.23 14 Mitochondrion;Cytoplasm;Endosome Encephalopathy, acute, infection-induced, Herpes-specific, 5 0 PE1 -NX_Q13115 42953 394 7.1 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13117 63111 558 8.84 Y Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 0 PE1 -NX_Q13118 52555 480 9.29 8 Nucleus NA 0 PE1 -NX_Q13123 65602 557 6.26 5 Nucleoplasm;Nucleus speckle;Nucleus;Spindle pole;Chromosome NA 0 PE1 -NX_Q13126 31236 283 6.75 9 Cytosol;Cytoplasm;Nucleus Diaphyseal medullary stenosis with malignant fibrous histiocytoma 0 PE1 -NX_Q13127 121872 1097 6.3 4 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Wilms tumor 6;Fibromatosis, gingival, 5 0 PE1 -NX_Q13129 217953 1914 6.32 1 Nucleus NA 0 PE1 -NX_Q13131 64009 559 8.32 5 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q13133 50396 447 7.61 11 Cytoplasm;Nucleus NA 0 PE1 -NX_Q13136 135779 1202 5.91 11 Cytosol;Cytoplasm;Focal adhesion NA 0 PE1 -NX_Q13137 52254 446 4.94 17 Autophagosome membrane;Cytosol;Cytoplasm;Cytoplasmic vesicle;Perinuclear region;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q13144 80380 721 4.98 3 Cytosol Leukodystrophy with vanishing white matter 0 PE1 -NX_Q13145 29108 260 7.91 10 Cytoplasmic vesicle;Lipid droplet;Nucleolus;Membrane NA 1 PE1 -NX_Q13148 44740 414 5.85 1 Nucleoplasm;Nucleus Amyotrophic lateral sclerosis 10 0 PE1 -NX_Q13151 30841 305 9.34 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13153 60647 545 5.55 11 Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Ruffle membrane;Invadopodium NA 0 PE1 -NX_Q13155 35349 320 8.45 7 Cytosol;Nucleus Leukodystrophy, hypomyelinating, 17 0 PE1 -NX_Q13156 28868 261 6.07 X Nucleus NA 0 PE1 -NX_Q13158 23279 208 5.48 11 Cytosol;Nucleoplasm Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations 0 PE1 -NX_Q13162 30540 271 5.86 X Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_Q13163 50112 448 5.98 15 Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q13164 88386 816 5.6 17 Cytosol;PML body;Nucleus;Cytoplasm NA 0 PE1 -NX_Q13166 9224 79 8 7 NA NA 0 PE2 -NX_Q13177 58043 524 5.69 3 Cytoplasmic vesicle;Cytoplasm;Perinuclear region;Nucleus;Membrane NA 0 PE1 -NX_Q13183 64410 592 6.55 17 Membrane NA 12 PE1 -NX_Q13185 20811 183 5.23 7 Nucleus NA 0 PE1 -NX_Q13188 56301 491 5.12 8 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q13190 39673 355 9.21 11 Nucleoplasm;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus NA 1 PE1 -NX_Q13191 109450 982 8.15 3 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q13200 100200 908 5.08 3 NA NA 0 PE1 -NX_Q13201 138110 1228 8.15 4 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_Q13202 65827 625 8.58 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q13203 52050 477 6.3 1 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q13206 100888 875 8.72 11 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q13207 75066 712 9.13 17 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13214 83122 749 9.17 3 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_Q13216 44055 396 5.91 5 Nucleus speckle;Nucleus Cockayne syndrome A;UV-sensitive syndrome 2 0 PE1 -NX_Q13217 57580 504 5.83 13 Endoplasmic reticulum Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 0 PE1 -NX_Q13219 180973 1627 5.76 9 Cytosol;Cell membrane;Secreted NA 0 PE1 -NX_Q13224 166367 1484 6.47 12 Postsynaptic cell membrane;Cell membrane Mental retardation, autosomal dominant 6, with or without seizures;Epileptic encephalopathy, early infantile, 27 3 PE1 -NX_Q13227 36689 327 9.52 17 Cytosol;Mitochondrion;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q13228 52391 472 5.93 1 Cytosol;Nucleolus;Nucleus;Membrane NA 0 PE1 -NX_Q13231 51681 466 6.55 1 Secreted;Lysosome NA 0 PE1 -NX_Q13232 19015 169 7.71 16 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q13233 164470 1512 7.93 5 Cytosol 46,XY sex reversal 6 0 PE1 -NX_Q13237 87432 762 8.67 4 Apical cell membrane NA 0 PE1 -NX_Q13239 31156 276 7.61 8 Cytoplasm;Endosome;Nucleus membrane NA 0 PE1 -NX_Q13241 20513 179 5.19 12 Membrane NA 1 PE1 -NX_Q13242 25542 221 8.74 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13243 31264 272 11.59 14 Nucleolus;Nucleus NA 0 PE1 -NX_Q13247 39587 344 11.42 20 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q13253 25774 232 9.13 17 Secreted Brachydactyly B2;Stapes ankylosis with broad thumb and toes;Multiple synostoses syndrome 1;Symphalangism, proximal 1A;Tarsal-carpal coalition syndrome 0 PE1 -NX_Q13255 132357 1194 6.27 6 Cytoplasmic vesicle;Cell membrane Spinocerebellar ataxia, autosomal recessive, 13;Spinocerebellar ataxia 44 7 PE1 -NX_Q13257 23510 205 5.02 4 Nucleoplasm;Kinetochore;Nucleus;Spindle pole;Cytoplasm NA 0 PE1 -NX_Q13258 40271 359 9.39 14 Cell membrane Asthma-related traits 1 7 PE1 -NX_Q13261 28233 267 8.64 10 Endoplasmic reticulum membrane;Extracellular space;Nucleus membrane;Cytosol;Cell membrane;Golgi apparatus membrane;Membrane;Cytoplasmic vesicle membrane NA 1 PE1 -NX_Q13263 88550 835 5.52 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13268 29927 280 9.21 14 Mitochondrion matrix;Mitochondrion;Nucleus NA 0 PE1 -NX_Q13275 88381 785 8.59 3 Secreted NA 0 PE1 -NX_Q13277 33155 289 5.31 11 Cytosol;Nucleus;Golgi apparatus;Membrane NA 1 PE1 -NX_Q13278 11984 110 8.36 11 NA NA 0 PE5 -NX_Q13283 52164 466 5.36 5 Perikaryon;Cytosol;Cytoplasm;Cell membrane;Stress granule;Nucleus NA 0 PE1 -NX_Q13285 51636 461 7.81 9 Nucleus Spermatogenic failure 8;Adrenal insufficiency, NR5A1-related;46,XX sex reversal 4;46,XY sex reversal 3;Premature ovarian failure 7 0 PE1 -NX_Q13286 47623 438 5.93 16 Lysosome membrane;Late endosome;Lysosome Ceroid lipofuscinosis, neuronal, 3 6 PE1 -NX_Q13287 35057 307 5.24 2 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q13291 37231 335 8.7 1 Cell membrane;Secreted NA 1 PE1 -NX_Q13296 10499 93 4.17 11 Secreted NA 0 PE1 -NX_Q13303 41000 367 9.11 1 Synaptosome;Cytoplasm;Cell membrane;Axon;Membrane;Cytoskeleton NA 0 PE1 -NX_Q13304 40989 367 9.58 2 Cytoplasmic vesicle;Cell membrane NA 7 PE2 -NX_Q13308 118392 1070 6.67 6 Cell junction;Membrane NA 1 PE1 -NX_Q13309 47761 424 6.67 5 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q13310 70783 644 9.31 1 Cytosol;Cytoplasm NA 0 PE1 -NX_Q13315 350687 3056 6.39 11 Nucleoplasm;Cytoplasmic vesicle;Nucleus Ataxia telangiectasia 0 PE1 -NX_Q13316 55782 513 4 4 Cytoplasm;Nucleus;Extracellular matrix Hypophosphatemic rickets, autosomal recessive, 1 0 PE1 -NX_Q13319 38705 367 9.76 2 Cell membrane NA 0 PE1 -NX_Q13322 67231 594 8.06 7 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q13323 18016 160 4.21 22 Mitochondrion membrane;Endomembrane system NA 1 PE1 -NX_Q13324 47688 411 7.87 7 Cell membrane NA 7 PE1 -NX_Q13325 55847 482 7 10 Cytoplasmic vesicle;Ruffle membrane;Cell membrane NA 0 PE1 -NX_Q13326 32379 291 5.64 13 Nucleoplasm;Cytoskeleton;Sarcolemma Limb-girdle muscular dystrophy 2C 1 PE1 -NX_Q13330 80786 715 9.34 14 Cytosol;Cytoplasm;Nucleus envelope;Nucleoplasm;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q13332 217041 1948 6.06 19 Synaptosome;Synaptic vesicle membrane;Perikaryon;Cytosol;Cell membrane;Axon;Postsynaptic density NA 1 PE1 -NX_Q13336 42528 389 6.79 18 Cytoplasmic vesicle;Basolateral cell membrane;Cell membrane NA 8 PE1 -NX_Q13342 98223 867 5.21 2 Mitochondrion;Cytoplasm;Nucleolus;Nucleus;PML body NA 0 PE1 -NX_Q13347 36502 325 5.38 1 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q13349 126758 1161 5.5 16 Membrane NA 1 PE1 -NX_Q13351 38221 362 6.67 19 Nucleoplasm;Nucleus Anemia, congenital dyserythropoietic, 4 0 PE1 -NX_Q13352 20194 177 9.13 1 Kinetochore;Cytoplasm;Centromere;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q13356 58823 520 8.92 22 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13360 54782 481 8.53 19 Nucleus NA 0 PE1 -NX_Q13361 19612 173 5.64 12 Extracellular matrix Aortic aneurysm, familial thoracic 9 0 PE1 -NX_Q13362 61061 524 6.41 14 Cytosol;Centromere;Nucleus;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q13363 47535 440 6.28 4 Nucleoplasm;Cytoplasm;Nucleus Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 0 PE1 -NX_Q13367 119059 1082 5.43 15 Golgi apparatus;Clathrin-coated vesicle membrane Epileptic encephalopathy, early infantile, 48 0 PE1 -NX_Q13368 66152 585 6.34 17 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q13370 124333 1112 5.61 11 Endoplasmic reticulum;Membrane NA 6 PE1 -NX_Q13371 34282 301 4.65 9 Cytosol;Cytoplasm;Cilium NA 0 PE1 -NX_Q13387 87975 824 4.36 22 Cytoplasm NA 0 PE1 -NX_Q13393 124184 1074 8.91 3 Endoplasmic reticulum membrane;Perinuclear region;Late endosome membrane;Golgi apparatus membrane;Cell membrane Cardiac valvular defect, developmental 0 PE1 -NX_Q13394 40956 359 8.94 13 Nucleus NA 0 PE1 -NX_Q13395 181675 1621 6.66 1 Nucleus speckle NA 0 PE1 -NX_Q13398 64535 564 8.83 19 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 -NX_Q13401 18716 168 4.52 7 NA NA 0 PE5 -NX_Q13402 254390 2215 8.79 11 Cytosol;Cytoplasm;Cytoskeleton;Cell cortex Deafness, autosomal recessive, 2;Usher syndrome 1B;Deafness, autosomal dominant, 11 0 PE1 -NX_Q13404 16495 147 7.71 20 Nucleus NA 0 PE1 -NX_Q13405 19198 166 9.47 11 Mitochondrion NA 0 PE1 -NX_Q13409 71457 638 5.08 2 Nucleolus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q13410 58960 526 5.38 6 Secreted;Membrane NA 1 PE1 -NX_Q13415 97350 861 9.34 1 Cytosol;Nucleus;Cell membrane Meier-Gorlin syndrome 1 0 PE1 -NX_Q13416 65972 577 6.07 2 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q13418 51419 452 8.3 11 Sarcomere;Lamellipodium;Focal adhesion;Cell junction;Cell membrane NA 0 PE1 -NX_Q13421 68986 630 6.03 16 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Secreted NA 0 PE1 -NX_Q13422 57528 519 6.12 7 Nucleoplasm;Cytoplasm;Nucleus Immunodeficiency, common variable, 13 0 PE1 -NX_Q13423 113896 1086 8.31 5 Mitochondrion;Mitochondrion inner membrane Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 14 PE1 -NX_Q13424 53895 505 6.35 20 Cytoskeleton;Cell junction;Sarcolemma Long QT syndrome 12 0 PE1 -NX_Q13425 57950 540 9.03 16 Cytoskeleton;Secretory vesicle membrane;Cell junction;Membrane NA 0 PE1 -NX_Q13426 38287 336 4.91 5 Nucleus Short stature, microcephaly, and endocrine dysfunction 0 PE1 -NX_Q13427 88617 754 10.29 2 Cytosol;Nucleus speckle;Nucleus;Nucleus matrix NA 0 PE1 -NX_Q13428 152106 1488 9.06 5 Nucleolus Treacher Collins syndrome 1 0 PE1 -NX_Q13432 26962 240 6 17 Spindle;Spindle pole;Centrosome Immunodeficiency 13 0 PE1 -NX_Q13433 85047 755 6.45 18 Cell membrane NA 6 PE1 -NX_Q13434 52910 485 5.08 X NA NA 0 PE5 -NX_Q13435 100228 895 5.52 11 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q13438 75562 667 4.8 12 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 -NX_Q13439 261140 2230 5.33 3 trans-Golgi network membrane;Golgi apparatus;Cytosol;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus membrane NA 0 PE1 -NX_Q13442 20630 181 8.84 7 Cytosol;Cell membrane NA 0 PE1 -NX_Q13443 90556 819 7.71 8 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane;Secreted Cone-rod dystrophy 9 1 PE1 -NX_Q13444 92959 863 6.3 1 Cytoplasmic vesicle;Adherens junction;Flagellum;Acrosome;Endomembrane system NA 1 PE1 -NX_Q13445 25206 227 4.39 19 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cell membrane NA 1 PE1 -NX_Q13449 37393 338 6.55 3 Cytosol;Cell membrane NA 0 PE1 -NX_Q13451 51212 457 5.71 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q13454 39676 348 9.93 8 Endoplasmic reticulum membrane Mental retardation, autosomal recessive 7 4 PE1 -NX_Q13459 243401 2157 8.91 19 Cytosol;Perinuclear region;Cell cortex;Cytoskeleton Celiac disease 4 0 PE1 -NX_Q13461 33234 319 9.72 1 Nucleus Cataract 34, multiple types;Anterior segment dysgenesis 2;Aortic aneurysm, familial thoracic 11 0 PE1 -NX_Q13464 158175 1354 5.66 18 Ruffle;Cytoplasm;Cell membrane;Centriole;Golgi apparatus membrane;Bleb;Lamellipodium;Cytoskeleton NA 0 PE1 -NX_Q13467 64507 585 8.69 2 Synapse;Perikaryon;Cell membrane;Axon;Dendrite;Golgi apparatus membrane NA 7 PE1 -NX_Q13469 100146 925 6.87 20 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q13470 72468 666 9.57 17 Cytoplasm;Cell junction;Membrane NA 0 PE1 -NX_Q13472 112372 1001 8.69 17 Mitochondrion matrix Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5;Microcephaly, growth restriction, and increased sister chromatid exchange 2 0 PE1 -NX_Q13474 107962 957 5.82 X Nucleus speckle;Dendrite;Perikaryon;Cell membrane;Postsynaptic density NA 0 PE1 -NX_Q13477 40155 382 5 19 Membrane NA 1 PE1 -NX_Q13478 62304 541 8.06 2 Mitochondrion;Membrane NA 1 PE1 -NX_Q13480 76616 694 5.63 4 Cytoplasmic vesicle Deafness, autosomal recessive, 26 0 PE1 -NX_Q13485 60439 552 6.5 18 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Centrosome Myhre syndrome;Pancreatic cancer;Juvenile polyposis syndrome;Colorectal cancer;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 PE1 -NX_Q13487 35556 334 5.79 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13488 92968 830 6.66 11 Mitochondrion;Membrane Osteopetrosis, autosomal recessive 1 8 PE1 -NX_Q13489 68372 604 5.71 11 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q13490 69900 618 6.27 11 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q13491 28989 265 5.53 X Cell membrane NA 4 PE1 -NX_Q13492 70755 652 7.7 11 Cytoplasmic vesicle;Clathrin-coated vesicle;Clathrin-coated pit;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q13495 83231 774 8.54 X Nucleoplasm;Nucleus Hypospadias 2, X-linked 0 PE1 -NX_Q13496 69932 603 8.38 X Late endosome;Ruffle;Cytoplasm;Cell membrane;Filopodium;Sarcomere Myopathy, centronuclear, X-linked 0 PE1 -NX_Q13501 47687 440 5.1 5 PML body;Late endosome;Lysosome;Cytosol;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleus;Autophagosome;Sarcomere Myopathy, distal, with rimmed vacuoles;Paget disease of bone 3;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 0 PE1 -NX_Q13503 15564 144 4.29 12 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q13505 51463 466 9.8 1 Mitochondrion;Mitochondrion outer membrane;Membrane NA 1 PE1 -NX_Q13506 54401 487 6.24 2 Nucleoplasm;Nucleus;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q13507 96009 836 6.25 4 Membrane Spinocerebellar ataxia 41 6 PE1 -NX_Q13508 43923 389 5.71 4 Cell membrane NA 0 PE1 -NX_Q13509 50433 450 4.83 16 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 1;Fibrosis of extraocular muscles, congenital, 3A 0 PE1 -NX_Q13510 44660 395 7.52 8 Lysosome Farber lipogranulomatosis;Spinal muscular atrophy with progressive myoclonic epilepsy 0 PE1 -NX_Q13515 45880 415 5.41 3 Cytosol;Cytoskeleton;Cell cortex;Cell membrane Cataract 12, multiple types 0 PE1 -NX_Q13516 32385 323 9.28 21 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q13519 20295 176 8.73 8 Secreted NA 0 PE1 -NX_Q13520 29370 282 8.88 12 Cytoplasmic vesicle membrane NA 6 PE2 -NX_Q13522 19011 171 5.9 12 NA NA 0 PE1 -NX_Q13523 116987 1007 10.26 6 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q13526 18243 163 8.95 19 Nucleoplasm;Nucleus speckle;Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_Q13530 52580 473 7.43 20 Perinuclear region;Golgi apparatus membrane;Cell membrane NA 8 PE1 -NX_Q13535 301367 2644 7.17 3 Nucleoplasm;PML body;Nucleus;Golgi apparatus;Chromosome Cutaneous telangiectasia and cancer syndrome, familial;Seckel syndrome 1 0 PE1 -NX_Q13536 17231 156 6.39 1 Nucleus NA 0 PE2 -NX_Q13541 12580 118 5.32 8 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q13542 12939 120 6.16 10 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q13546 75931 671 5.92 6 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q13547 55103 482 5.31 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13554 72678 666 6.87 7 Centrosome;Synapse;Cytoskeleton;Sarcoplasmic reticulum membrane Mental retardation, autosomal dominant 54 0 PE1 -NX_Q13555 62607 558 7.9 10 Sarcoplasmic reticulum membrane NA 0 PE1 -NX_Q13557 56369 499 6.81 4 Sarcolemma;Sarcoplasmic reticulum membrane NA 0 PE1 -NX_Q13561 44231 401 5.1 12 Endosome;Centrosome;Membrane NA 0 PE1 -NX_Q13562 39920 356 5.2 2 Cytoplasm;Nucleus Maturity-onset diabetes of the young 6;Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_Q13563 109691 968 5.49 4 Endoplasmic reticulum membrane;Basolateral cell membrane;Golgi apparatus;Cell membrane;Cilium membrane;Endoplasmic reticulum;Cytoplasmic vesicle membrane Polycystic kidney disease 2 with or without polycystic liver disease 6 PE1 -NX_Q13564 60246 534 5.25 16 Cytoplasm;Cytoskeleton;Nucleus;Centrosome;Cell membrane NA 0 PE1 -NX_Q13568 56044 498 5.54 7 Cytoplasm;Nucleus Rheumatoid arthritis;Systemic lupus erythematosus 10;Inflammatory bowel disease 14 0 PE1 -NX_Q13569 46053 410 6.36 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13571 29937 262 8.95 1 Cytosol;Lysosome membrane NA 5 PE1 -NX_Q13572 45621 414 5.78 14 Mitochondrion NA 0 PE1 -NX_Q13573 61494 536 9.52 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13574 124128 1117 9.24 11 Cytoplasm;Nucleus;Nucleus speckle;Cell membrane;Lamellipodium NA 0 PE1 -NX_Q13576 180578 1575 5.47 5 Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q13585 67369 617 7.64 X Nucleoplasm;Cell membrane NA 7 PE1 -NX_Q13586 77423 685 6.19 11 Endoplasmic reticulum membrane;Cytoskeleton;Sarcoplasmic reticulum;Endoplasmic reticulum;Cell membrane Stormorken syndrome;Myopathy, tubular aggregate, 1;Immunodeficiency 10 1 PE1 -NX_Q13588 25337 217 6.54 17 NA NA 0 PE1 -NX_Q13591 120615 1074 7.03 5 Membrane NA 1 PE1 -NX_Q13595 32689 282 11.27 7 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 -NX_Q13596 59070 522 5.08 15 Endosome;trans-Golgi network membrane;Lysosome;Early endosome membrane;Endosome membrane;Lamellipodium NA 0 PE1 -NX_Q13601 43665 381 9.78 12 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q13606 36049 314 8.25 11 Cell membrane NA 7 PE2 -NX_Q13607 35350 317 8.65 7 Cell membrane NA 7 PE2 -NX_Q13608 104061 980 5.96 6 Peroxisome membrane;Photoreceptor outer segment;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus Peroxisome biogenesis disorder complementation group 4;Peroxisome biogenesis disorder 4B;Heimler syndrome 2;Peroxisome biogenesis disorder 4A 0 PE1 -NX_Q13609 35504 305 9.35 3 Nucleus;Golgi apparatus;Endoplasmic reticulum;Secreted Systemic lupus erythematosus 16 0 PE1 -NX_Q13610 55828 501 4.6 12 Nucleolus;Nucleus;Chromosome;Golgi apparatus NA 0 PE1 -NX_Q13613 74678 665 6.69 X Cytoplasm;Cell membrane;Microtubule organizing center NA 0 PE1 -NX_Q13614 73381 643 7.02 11 Cytoplasmic vesicle;Cytoplasm;Early endosome membrane Charcot-Marie-Tooth disease 4B1 0 PE1 -NX_Q13615 133619 1198 5.51 22 Nucleoplasm;Cytoplasm;Cytosol;Membrane NA 0 PE1 -NX_Q13616 89679 776 8.19 7 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q13617 86983 745 6.46 10 Nucleoplasm NA 0 PE1 -NX_Q13618 88930 768 8.68 2 Flagellum;Cytoplasm;Nucleus;Golgi apparatus Pseudohypoaldosteronism 2E 0 PE1 -NX_Q13619 87680 759 8.29 13 NA NA 0 PE1 -NX_Q13620 103982 913 7.01 X Nucleus Mental retardation, X-linked, syndromic, 15 0 PE1 -NX_Q13621 121450 1099 7.18 15 Cytoplasmic vesicle;Nucleus;Membrane Bartter syndrome 1, antenatal 12 PE1 -NX_Q13625 125616 1128 5.78 1 Cytosol;Perinuclear region;Nucleus;Cell junction NA 0 PE1 -NX_Q13627 85584 763 8.9 21 Cytosol;Nucleus speckle;Nucleolus;Nucleus Mental retardation, autosomal dominant 7 0 PE1 -NX_Q13630 35893 321 6.12 8 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q13634 88073 790 4.98 5 Cell membrane NA 1 PE1 -NX_Q13635 160545 1447 6.42 9 Cell membrane;Golgi apparatus Holoprosencephaly 7;Basal cell nevus syndrome;Basal cell carcinoma 12 PE1 -NX_Q13636 21569 194 6.59 18 trans-Golgi network membrane;Cytoplasm;Phagosome;trans-Golgi network;Early endosome;Phagosome membrane NA 0 PE1 -NX_Q13637 24997 225 6.08 6 Melanosome;Cytosol;Phagosome;Mitochondrion outer membrane;Mitochondrion;Melanosome membrane;Phagosome membrane NA 0 PE1 -NX_Q13639 43761 388 8.06 5 Endosome;Cell membrane NA 7 PE1 -NX_Q13641 46032 420 6.35 6 Nucleoplasm;Cell membrane NA 1 PE1 -NX_Q13642 36263 323 9.25 X Cytosol;Cytoplasm;Nucleus;Cell membrane Uruguay faciocardiomusculoskeletal syndrome;Myopathy, X-linked, with postural muscle atrophy;Reducing body myopathy, X-linked 1B, with late childhood or adult onset;Scapuloperoneal myopathy, X-linked dominant;Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset;Emery-Dreifuss muscular dystrophy 6, X-linked 0 PE1 -NX_Q13643 31192 280 5.79 1 Cytoplasm;Nucleus NA 0 PE1 -NX_Q13651 63003 578 5.23 11 Membrane Inflammatory bowel disease 28 1 PE1 -NX_Q13670 28555 270 6.23 7 NA NA 0 PE5 -NX_Q13671 84099 783 8.3 11 Cytoplasm;Cytoskeleton;Nucleus;Nucleus membrane;Membrane NA 0 PE1 -NX_Q13683 128948 1181 5.47 12 Cytosol;Cell membrane;Membrane Muscular dystrophy congenital due to integrin alpha-7 deficiency 1 PE1 -NX_Q13685 46751 434 4.29 2 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q13686 43832 389 6.61 14 Mitochondrion;Nucleus NA 0 PE1 -NX_Q13698 212350 1873 6.17 1 Sarcolemma Thyrotoxic periodic paralysis 1;Malignant hyperthermia 5;Periodic paralysis hypokalemic 1 24 PE1 -NX_Q13702 46328 412 8.48 11 Cytosol;Cytoskeleton;Postsynaptic cell membrane;Centrosome;Cell membrane Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Fetal akinesia deformation sequence 0 PE1 -NX_Q13705 57724 512 5.46 3 Cytosol;Nucleus;Cell membrane Heterotaxy, visceral, 4, autosomal 1 PE1 -NX_Q13724 91918 837 8.97 2 Endoplasmic reticulum membrane;Endoplasmic reticulum Type IIb congenital disorder of glycosylation 1 PE1 -NX_Q13733 114166 1029 6.23 1 Cell membrane NA 10 PE1 -NX_Q13740 65102 583 5.92 3 Axon;Dendrite;Cell membrane;Secreted NA 1 PE1 -NX_Q13751 129572 1172 7.14 1 Mitochondrion;Nucleolus;Basement membrane Epidermolysis bullosa, junctional, Herlitz type;Amelogenesis imperfecta 1A;Generalized atrophic benign epidermolysis bullosa 0 PE1 -NX_Q13753 130976 1193 5.83 1 Cytosol;Basement membrane Epidermolysis bullosa, junctional, Herlitz type 0 PE1 -NX_Q13761 44356 415 9.53 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q13765 23384 215 4.52 12 Cytoplasm;Nucleus NA 0 PE1 -NX_Q13769 78508 683 6.41 22 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q13772 69726 614 5.72 10 Cytosol;Nucleolus;Golgi apparatus NA 0 PE1 -NX_Q13790 35399 326 5.42 12 Secreted NA 0 PE1 -NX_Q13794 6030 54 10.3 18 Mitochondrion;Cytoplasmic vesicle NA 0 PE1 -NX_Q13795 22614 201 7.5 20 Golgi apparatus;trans-Golgi network NA 0 PE1 -NX_Q13796 176410 1616 6.64 X Apical cell membrane;Cytosol;Cell membrane;Cytoskeleton;Cell junction;Tight junction NA 0 PE1 -NX_Q13797 114489 1035 5.76 3 Cytoplasmic vesicle;Nucleoplasm;Cell junction;Cell membrane;Membrane NA 1 PE1 -NX_Q13813 284539 2472 5.22 9 Cytoplasmic vesicle;Cytoskeleton;Cell cortex Epileptic encephalopathy, early infantile, 5 0 PE1 -NX_Q13822 98994 863 7.14 8 Cytoskeleton;Nucleus;Golgi apparatus;Secreted NA 0 PE1 -NX_Q13823 83655 731 9.27 1 Nucleolus NA 0 PE1 -NX_Q13825 35609 339 9.53 9 Mitochondrion 3-methylglutaconic aciduria 1 0 PE1 -NX_Q13829 36204 316 8.26 17 Cytoplasm;Endosome;Nucleolus;Nucleus NA 0 PE1 -NX_Q13835 82861 747 9.29 1 Nucleoplasm;Desmosome;Nucleus Ectodermal dysplasia-skin fragility syndrome 0 PE1 -NX_Q13838 48991 428 5.44 6 Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q13867 52562 455 5.87 17 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q13868 32789 293 7.06 9 Cytoplasm;Nucleolus;Nucleus Short stature, hearing loss, retinitis pigmentosa, and distinctive facies 0 PE1 -NX_Q13873 115201 1038 5.82 2 Nucleoplasm;Cell membrane Pulmonary hypertension, primary, 1;Pulmonary venoocclusive disease 1, autosomal dominant 1 PE1 -NX_Q13875 20959 183 11.35 3 Perinuclear region NA 0 PE1 -NX_Q13882 51834 451 6.56 20 Ruffle;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus;Membrane NA 0 PE1 -NX_Q13884 58061 538 8.81 8 Cytoskeleton;Cell junction;Sarcolemma NA 0 PE1 -NX_Q13885 49907 445 4.78 6 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 5 0 PE1 -NX_Q13886 27235 244 8.8 9 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q13887 50792 457 8.86 13 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q13888 44419 395 6.28 5 Nucleus NA 0 PE1 -NX_Q13889 34378 308 6.59 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13895 49601 437 8.19 6 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q13901 16019 141 9 2 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q13905 120548 1077 5.64 9 Early endosome NA 0 PE1 -NX_Q13907 26319 227 5.93 10 Peroxisome NA 0 PE1 -NX_Q13936 248977 2221 6.33 12 Dendrite;Perikaryon;Sarcolemma;Cell membrane;Postsynaptic density Brugada syndrome 3;Timothy syndrome 24 PE1 -NX_Q13938 30240 275 5.67 19 Cytosol;Nucleoplasm;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q13939 66582 588 8.49 9 Calyx NA 0 PE1 -NX_Q13946 55505 482 7.1 8 Cytosol;Cytoplasm NA 0 PE1 -NX_Q13948 77455 678 5.35 7 Golgi apparatus membrane NA 1 PE1 -NX_Q13950 56648 521 9.03 6 Nucleoplasm;Nucleus Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly;Cleidocranial dysplasia 0 PE1 -NX_Q13951 21508 182 6.23 16 Cytosol;Nucleus NA 0 PE1 -NX_Q13952 50302 458 5.78 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13956 9074 83 9.3 12 NA Cone dystrophy, retinal 3A 0 PE1 -NX_Q13972 145234 1273 7.18 15 Golgi apparatus NA 0 PE1 -NX_Q13976 76364 671 5.74 10 Cytosol;Cytoplasm;Cytoplasmic vesicle Aortic aneurysm, familial thoracic 8 0 PE1 -NX_Q14002 29379 265 5.36 19 Apical cell membrane;Cell membrane NA 0 PE1 -NX_Q14003 80578 757 6.08 19 Dendritic spine membrane;Cell cortex;Cell membrane;Axon;Dendrite;Presynaptic cell membrane;Perikaryon;Cytoskeleton Spinocerebellar ataxia 13 6 PE1 -NX_Q14004 164923 1512 9.71 7 Nucleus speckle Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 PE1 -NX_Q14005 141752 1332 8.34 15 Nucleus speckle;Secreted;Cytosol;Cytoplasm;Cell membrane;Nucleus NA 0 PE1 -NX_Q14008 225495 2032 7.95 11 Kinetochore;Nucleolus;Cell membrane;Spindle pole;Spindle;Centrosome NA 0 PE1 -NX_Q14011 18648 172 9.51 19 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q14012 41337 370 5.12 3 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q14019 15945 142 5.54 16 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q14028 139678 1251 4.76 16 Cytoplasmic vesicle;Cytosol;Membrane Retinitis pigmentosa 45 6 PE1 -NX_Q14031 163807 1691 9.31 X Basement membrane;Endoplasmic reticulum Deafness, X-linked, 6 0 PE1 -NX_Q14032 46299 418 6.5 9 Cytoplasmic vesicle;Cytoplasm Familial hypercholanemia 0 PE1 -NX_Q14050 63616 684 7.58 20 Nucleoplasm;Cytoskeleton;Extracellular matrix Intervertebral disc disease;Multiple epiphyseal dysplasia 3 0 PE1 -NX_Q14055 65131 689 9.23 1 Cytoplasmic vesicle;Nucleus;Extracellular matrix Intervertebral disc disease;Stickler syndrome 5;Multiple epiphyseal dysplasia 2 0 PE1 -NX_Q14061 6915 63 6.8 3 Mitochondrion;Cytoplasm;Mitochondrion intermembrane space NA 0 PE1 -NX_Q14088 26593 237 8.07 X Cytoplasmic vesicle;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q14093 39079 348 9.74 9 Calyx NA 0 PE1 -NX_Q14094 42557 377 8.23 4 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q14103 38434 355 7.61 4 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q14106 36632 344 6.45 22 Cytosol;Cytoplasm NA 0 PE1 -NX_Q14108 54290 478 5 4 Cytosol;Lysosome membrane Epilepsy, progressive myoclonic 4, with or without renal failure 2 PE1 -NX_Q14112 151254 1375 5.09 14 Basement membrane;Cell membrane NA 0 PE1 -NX_Q14114 105634 963 4.88 1 Cell membrane;Secreted Myocardial infarction 1 1 PE1 -NX_Q14116 22326 193 4.54 11 Cytosol;Nucleus;Golgi apparatus;Secreted NA 0 PE1 -NX_Q14117 56630 519 6.81 8 NA Dihydropyrimidinase deficiency 0 PE1 -NX_Q14118 97441 895 8.71 3 Extracellular space;Nucleoplasm;Cell membrane;Cytoplasmic vesicle;Postsynaptic cell membrane;Sarcolemma;Cytoskeleton Muscular dystrophy-dystroglycanopathy limb-girdle C9;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9 1 PE1 -NX_Q14119 56931 521 9.62 17 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14123 80760 709 8.88 7 Nucleus NA 0 PE1 -NX_Q14126 122294 1118 5.13 18 Desmosome;Cell junction;Cell membrane Cardiomyopathy, dilated 1BB;Arrhythmogenic right ventricular dysplasia, familial, 10 1 PE1 -NX_Q14129 24989 220 7.02 22 Nucleus NA 0 PE1 -NX_Q14134 65835 588 6.73 11 Nucleoplasm;Cytoplasm;Cytoskeleton;Lysosome NA 0 PE1 -NX_Q14135 30948 290 8.49 3 Nucleolus;Nucleus NA 0 PE1 -NX_Q14137 83630 746 5.8 8 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q14139 122561 1066 5.11 11 Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q14140 33897 314 4.42 2 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q14141 49717 434 6.24 X Kinetochore;Flagellum;Cleavage furrow;Cytoplasm;Spindle;Midbody NA 0 PE1 -NX_Q14142 49773 442 8.13 9 Cytosol;Nucleoplasm;Mitochondrion outer membrane NA 0 PE1 -NX_Q14145 69666 624 6 19 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Microtubule organizing center NA 0 PE1 -NX_Q14146 170544 1524 6.97 1 Nucleolus NA 0 PE1 -NX_Q14147 128120 1143 7.37 19 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q14149 107113 939 5.42 21 Nucleoplasm;PML body;Mitochondrion;Nucleus matrix NA 0 PE1 -NX_Q14151 107473 953 5.84 19 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q14152 166569 1382 6.38 10 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q14153 45768 422 6.33 10 Cytosol;Nucleus NA 0 PE1 -NX_Q14154 55920 515 9.37 5 Nucleoplasm;Mitochondrion;Golgi apparatus NA 0 PE1 -NX_Q14155 90012 803 6.66 13 Lamellipodium;Focal adhesion;Ruffle;Cell cortex NA 0 PE1 -NX_Q14156 92924 821 6.24 8 Cytosol;Cell membrane NA 0 PE1 -NX_Q14157 114535 1087 6.61 1 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q14159 100316 915 6.22 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14160 174885 1630 5.01 8 Nucleoplasm;Cytoplasm;Cell membrane;Adherens junction;Lamellipodium;Cell junction Neural tube defects 0 PE1 -NX_Q14161 84543 759 6.78 12 Cytoskeleton NA 0 PE1 -NX_Q14162 87387 830 5.98 17 Membrane NA 1 PE1 -NX_Q14164 80462 716 7.91 1 Cytosol;PML body;Nucleus;Cytoplasm NA 0 PE1 -NX_Q14165 32234 292 5.27 12 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q14166 74404 644 5.33 22 Cytosol;Cell membrane NA 0 PE1 -NX_Q14168 64581 576 6.32 17 Dendritic spine membrane;Cytosol;Dendrite;Membrane;Mitochondrion;Cytoskeleton NA 0 PE1 -NX_Q14181 65948 598 5.13 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14183 43959 400 6.83 16 Synaptosome;Synaptic vesicle membrane;Nucleolus;Lysosome;Nucleus;Cell junction NA 0 PE1 -NX_Q14184 45922 412 8.25 17 Cytoplasmic granule;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q14185 215346 1865 7.29 10 Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_Q14186 45070 410 5.74 13 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q14188 49236 446 6.17 3 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q14190 73219 667 9.03 21 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14191 162461 1432 5.96 8 Nucleoplasm;Nucleus speckle;Nucleolus;Nucleus Werner syndrome;Colorectal cancer 0 PE1 -NX_Q14192 32193 279 7.8 2 Cytoplasm;Cytoskeleton;Nucleus;Focal adhesion;Z line NA 0 PE1 -NX_Q14194 62184 572 6.55 4 Cytosol;Cytoplasm;Spindle;Centrosome NA 0 PE1 -NX_Q14195 61963 570 6.04 5 Cytosol;Cytoplasm;Growth cone NA 0 PE1 -NX_Q14197 23630 206 10.09 17 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q14201 29116 252 9.12 21 NA NA 0 PE1 -NX_Q14202 152379 1370 6.01 X Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14203 141695 1278 5.61 2 Cytosol;Cytoplasm;Cell cortex;Nucleus envelope;Centriole;Spindle;Cytoskeleton;Centrosome Perry syndrome;Amyotrophic lateral sclerosis;Neuronopathy, distal hereditary motor, 7B 0 PE1 -NX_Q14204 532408 4646 6.01 14 Cytosol;Cytoplasm;Cytoskeleton;Centrosome Mental retardation, autosomal dominant 13;Charcot-Marie-Tooth disease 2O;Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant 0 PE1 -NX_Q14206 21997 197 5.84 6 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q14207 154290 1427 5.63 11 Nucleoplasm;Cajal body;Nucleus NA 0 PE1 -NX_Q14209 47506 437 4.75 1 Nucleus NA 0 PE1 -NX_Q14210 13286 128 8.59 8 Cell membrane NA 0 PE1 -NX_Q14213 25396 229 9.41 19 Secreted NA 0 PE1 -NX_Q14232 33712 305 6.91 12 Cytosol Leukodystrophy with vanishing white matter 0 PE1 -NX_Q14236 17843 149 10.16 X NA NA 0 PE2 -NX_Q14240 46402 407 5.33 3 NA NA 0 PE1 -NX_Q14241 89909 798 9.59 1 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q14242 43201 412 4.35 12 Membrane NA 1 PE1 -NX_Q14244 84052 749 9.62 6 Cytosol;Perinuclear region;Basolateral cell membrane;Cytoskeleton NA 0 PE1 -NX_Q14246 97683 886 6.42 19 Cell membrane NA 7 PE1 -NX_Q14247 61586 550 5.24 11 Ruffle;Golgi apparatus;Cytosol;Cell cortex;Clathrin-coated pit;Cell membrane;Cytoplasmic vesicle;Dendrite;Focal adhesion;Cell projection;Dendritic spine;Lamellipodium;Cytoskeleton;Podosome;Cell junction NA 0 PE1 -NX_Q14249 32620 297 9.53 9 Mitochondrion NA 0 PE1 -NX_Q14254 47064 428 5.19 17 Caveola;Endosome;Cell membrane;Membrane NA 0 PE1 -NX_Q14257 36876 317 4.26 15 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 -NX_Q14258 70973 630 8.44 17 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q14264 67942 604 6.84 7 Cytoplasmic vesicle;Virion NA 0 PE1 -NX_Q14289 115875 1009 5.91 8 Cytosol;Cytoplasm;Cell cortex;Perinuclear region;Cell membrane;Focal adhesion;Nucleus;Lamellipodium NA 0 PE1 -NX_Q14296 61104 549 9.96 7 Mitochondrion matrix;Nucleus speckle;Mitochondrion NA 0 PE1 -NX_Q14314 50229 439 7.09 7 Secreted NA 0 PE1 -NX_Q14315 291022 2725 5.65 7 Cytosol;Cytoplasm;Cell membrane;Membrane;Cytoskeleton;Z line Cardiomyopathy, familial hypertrophic 26;Myopathy, myofibrillar, 5;Myopathy, distal, 4;Cardiomyopathy, familial restrictive 5 0 PE1 -NX_Q14318 44562 412 4.78 19 Cytosol;Mitochondrion;Endoplasmic reticulum;Mitochondrion membrane NA 1 PE1 -NX_Q14320 40242 339 6.39 X Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14324 128072 1141 7.44 19 NA NA 0 PE1 -NX_Q14330 38134 331 9.38 13 Cytoplasmic vesicle membrane;Cell membrane NA 7 PE1 -NX_Q14331 29172 258 9.1 4 Cajal body;Nucleolus;Z line;Cytoplasm Facioscapulohumeral muscular dystrophy 1 0 PE1 -NX_Q14332 63554 565 8.47 17 Nucleus;Cell junction;Cell membrane;Membrane NA 7 PE1 -NX_Q14344 44050 377 8.12 17 Cytosol;Cytoplasm;Nucleus;Melanosome;Cell membrane NA 0 PE1 -NX_Q14353 26318 236 5.74 19 NA Cerebral creatine deficiency syndrome 2 0 PE1 -NX_Q14376 38282 348 6.26 1 Cytosol;Nucleus;Cell membrane Epimerase-deficiency galactosemia 0 PE1 -NX_Q14390 23661 218 5.11 22 NA NA 0 PE2 -NX_Q14392 71979 662 5.73 11 Nucleoplasm;Cell surface;Cell membrane NA 1 PE1 -NX_Q14393 74925 678 5.46 13 Cytosol;Secreted;Microtubule organizing center NA 0 PE1 -NX_Q14397 68685 625 6.24 2 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q14406 25391 222 5.56 17 Secreted NA 0 PE2 -NX_Q14409 60598 553 6 4 Cytoplasm;Mitochondrion outer membrane NA 0 PE1 -NX_Q14410 60594 553 5.57 4 Cytoplasm;Mitochondrion outer membrane NA 0 PE1 -NX_Q14416 95568 872 8.5 3 Dendrite;Synapse;Cell membrane NA 7 PE1 -NX_Q14432 124979 1141 5.66 12 Cytosol;Membrane Hypertension and brachydactyly syndrome 6 PE1 -NX_Q14435 72610 633 8.2 2 Golgi stack membrane;Golgi apparatus Tumoral calcinosis, hyperphosphatemic, familial, 1 1 PE1 -NX_Q14439 56998 515 8.81 15 Cell membrane NA 7 PE1 -NX_Q14442 21081 188 6.29 14 Cytoplasm Glycosylphosphatidylinositol biosynthesis defect 17 0 PE1 -NX_Q14444 78366 709 5.14 11 Cytosol;Cytoplasm;Dendrite NA 0 PE1 -NX_Q14449 60988 540 8.56 2 Cytosol;Nucleoplasm;Endosome membrane;Cytoplasm NA 0 PE1 -NX_Q14451 59681 532 8.82 17 Cytoplasm;Focal adhesion;Cell projection;Cell membrane;Cytoplasmic granule NA 0 PE1 -NX_Q14457 51896 450 4.83 17 Endoplasmic reticulum membrane;Endosome;trans-Golgi network membrane;Cytoplasm;Endosome membrane;Nucleus;Autophagosome;Mitochondrion;Mitochondrion membrane NA 0 PE1 -NX_Q14469 29541 280 9.66 3 Nucleus NA 0 PE1 -NX_Q14493 31286 270 7.06 4 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q14494 84704 772 4.52 17 Endoplasmic reticulum membrane;Cytosol;Nucleus NA 1 PE1 -NX_Q14498 59380 530 10.1 20 Nucleoplasm;Nucleus speckle;Cytoskeleton;Nucleus;Microtubule organizing center NA 0 PE1 -NX_Q14500 49001 433 5.63 17 Cell membrane;Membrane NA 2 PE1 -NX_Q14507 17646 147 8.64 14 Secreted NA 0 PE1 -NX_Q14508 12993 124 4.69 20 Cytosol;Secreted NA 0 PE1 -NX_Q14511 92861 834 6.23 6 Golgi apparatus;Nucleoplasm;Cytoplasm;Cell cortex;Cell membrane;Cytosol;Focal adhesion;Nucleus;Lamellipodium;Spindle NA 0 PE1 -NX_Q14512 26264 234 9.28 4 Extracellular space;Cell membrane NA 0 PE1 -NX_Q14515 75208 664 4.71 4 Extracellular matrix NA 0 PE1 -NX_Q14517 506273 4588 4.85 4 Perinuclear region;Nucleus;Cell membrane NA 1 PE1 -NX_Q14520 62672 560 6.09 10 Secreted Thyroid cancer, non-medullary, 5 0 PE1 -NX_Q14524 226940 2016 5.34 3 Perinuclear region;Cell membrane Sudden infant death syndrome;Familial paroxysmal ventricular fibrillation 1;Sick sinus syndrome 1;Brugada syndrome 1;Progressive familial heart block 1A;Atrial standstill 1;Atrial fibrillation, familial, 10;Cardiomyopathy, dilated 1E;Long QT syndrome 3 24 PE1 -NX_Q14525 46214 404 4.81 17 NA NA 0 PE1 -NX_Q14526 76508 733 6.38 17 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q14527 113929 1009 8.82 3 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q14532 50343 448 4.78 17 NA NA 0 PE1 -NX_Q14533 54928 505 5.4 12 NA Monilethrix 0 PE1 -NX_Q14534 63923 574 8.8 8 Cytosol;Endoplasmic reticulum membrane;Cytoplasmic vesicle;Microsome membrane NA 4 PE1 -NX_Q14541 45877 408 8.68 8 Nucleus NA 0 PE1 -NX_Q14542 50113 456 5.76 11 Nucleoplasm;Basolateral cell membrane;Nucleus membrane NA 11 PE1 -NX_Q14549 37629 363 7.04 7 Nucleus NA 0 PE1 -NX_Q14554 59594 519 8.08 3 Nucleoplasm;Endoplasmic reticulum lumen;Nucleolus;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q14558 39394 356 6.73 17 Cytosol NA 0 PE1 -NX_Q14562 139315 1220 8.54 17 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14563 88889 771 7.05 7 Nucleoplasm;Cytoplasmic vesicle;Secreted Hypogonadotropic hypogonadism 16 with or without anosmia 0 PE1 -NX_Q14565 37681 340 5.62 22 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q14566 92889 821 5.29 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14568 39365 343 4.57 11 Cytoplasm NA 0 PE1 -NX_Q14571 308064 2701 6.01 12 Endoplasmic reticulum membrane;Nucleus;Endoplasmic reticulum Anhidrosis, isolated, with normal sweat glands 6 PE1 -NX_Q14573 304106 2671 6.05 6 Endoplasmic reticulum membrane;Cytoplasmic vesicle NA 6 PE1 -NX_Q14574 99969 896 5.77 18 Desmosome;Cell junction;Cell membrane Hypotrichosis and recurrent skin vesicles 1 PE1 -NX_Q14576 39547 367 9.33 19 NA NA 0 PE1 -NX_Q14582 23528 209 6.46 4 Cytosol;Nucleus NA 0 PE1 -NX_Q14584 62116 549 8.93 19 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q14585 55383 488 8.7 19 Nucleus NA 0 PE1 -NX_Q14586 87376 743 9.14 16 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14587 108374 947 9.14 12 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q14588 80560 700 8.96 19 Nucleus NA 0 PE1 -NX_Q14590 83977 738 8.91 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14592 63665 562 6.55 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14593 64971 569 9.62 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14596 107413 966 5.03 17 Lysosome;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Autophagosome;M line NA 0 PE1 -NX_Q14602 4055 36 10.27 3 NA NA 0 PE5 -NX_Q14623 45251 411 8.98 2 Extracellular space;Cell membrane Acrocapitofemoral dysplasia;Brachydactyly A1 0 PE1 -NX_Q14624 103357 930 6.51 3 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q14626 45222 422 8.03 9 Membrane Craniosynostosis and dental anomalies 1 PE1 -NX_Q14627 44176 380 4.84 X Membrane NA 1 PE1 -NX_Q14641 15445 139 9.28 9 Secreted NA 0 PE1 -NX_Q14642 47820 412 6.58 10 Cytosol;Membrane NA 0 PE1 -NX_Q14643 313929 2758 5.71 3 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Perinuclear region;Secretory vesicle membrane Spinocerebellar ataxia 29;Spinocerebellar ataxia 15;Gillespie syndrome 6 PE1 -NX_Q14644 95699 834 6.76 13 Cell membrane NA 0 PE1 -NX_Q14651 70253 629 5.28 3 Cytoplasm NA 0 PE1 -NX_Q14653 47219 427 5.17 19 Cytosol;Cytoplasm;Nucleus Encephalopathy, acute, infection-induced, Herpes-specific, 7 0 PE1 -NX_Q14654 43541 390 8.15 11 Membrane Familial hyperinsulinemic hypoglycemia 2;Diabetes mellitus, permanent neonatal;Transient neonatal diabetes mellitus 3;Maturity-onset diabetes of the young 13 2 PE1 -NX_Q14656 29148 261 9.05 X Cytosol;Nucleolus;Golgi apparatus;Membrane NA 6 PE2 -NX_Q14657 14804 143 8.88 X Nucleoplasm;Cytoplasm;Nucleus Galloway-Mowat syndrome 2, X-linked 0 PE1 -NX_Q14667 253700 2235 6.71 17 Cytosol;Nucleus speckle;Secreted NA 0 PE1 -NX_Q14669 220434 1992 8.76 2 Nucleoplasm;Nucleus speckle Mental retardation, autosomal dominant 49 0 PE1 -NX_Q14671 126473 1186 6.35 1 Cytosol;Cytoplasm;P-body;Nucleus;Cytoplasmic granule Spinocerebellar ataxia 47 0 PE1 -NX_Q14674 233175 2120 7.65 12 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q14676 226666 2089 5.35 6 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q14677 68259 625 6.01 5 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Perinuclear region;Membrane;Clathrin-coated vesicle NA 0 PE1 -NX_Q14678 147289 1352 5.18 9 Cytoplasm;Nucleus;Ruffle membrane;Cell membrane Cerebral palsy, spastic quadriplegic 2 0 PE1 -NX_Q14679 133378 1199 9.04 2 Mitochondrion;Cilium;Cilium basal body NA 0 PE1 -NX_Q14680 74642 651 8.92 9 Cell membrane NA 0 PE1 -NX_Q14681 28527 263 5.21 17 NA NA 0 PE1 -NX_Q14683 143233 1233 7.51 X Cytosol;Nucleoplasm;Kinetochore;Nucleus;Chromosome Cornelia de Lange syndrome 2 0 PE1 -NX_Q14684 84428 758 9.77 21 Nucleoplasm;Nucleolus;Chromosome NA 0 PE1 -NX_Q14686 219145 2063 9.4 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14687 136164 1217 7.36 16 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q14689 170369 1571 8.35 21 Nucleus NA 0 PE1 -NX_Q14690 208701 1871 8.99 10 Cytoplasmic vesicle;Nucleolus NA 0 PE1 -NX_Q14691 22988 196 6.96 20 Nucleoplasm;Nucleus Immunodeficiency 55 0 PE1 -NX_Q14692 145807 1282 6.04 10 Nucleolus;Nucleus Aplasia cutis congenita, non-syndromic 0 PE1 -NX_Q14693 98664 890 6.14 2 Endoplasmic reticulum membrane;Cytosol;Nucleolus;Nucleus;Nucleus membrane Myoglobinuria, acute recurrent, autosomal recessive 0 PE1 -NX_Q14694 87134 798 5.19 16 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Early endosome NA 0 PE1 -NX_Q14695 14937 138 9.04 7 NA NA 0 PE2 -NX_Q14696 26077 234 7.6 15 Cytosol;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q14697 106874 944 5.74 11 Cytosol;Golgi apparatus;Melanosome;Endoplasmic reticulum;Nucleus membrane Polycystic kidney disease 3 with or without polycystic liver disease 0 PE1 -NX_Q14699 63146 578 5.46 3 Cytoplasm;Endosome;Membrane raft;Cell membrane;Early endosome NA 0 PE1 -NX_Q14703 117749 1052 8.91 16 Endoplasmic reticulum membrane;Golgi apparatus membrane NA 1 PE1 -NX_Q14714 26618 243 8.12 12 Nucleus membrane;Cell membrane;Postsynaptic cell membrane;Endoplasmic reticulum;Sarcolemma;Nucleus NA 4 PE1 -NX_Q14721 95878 858 8.32 20 Synaptosome;Synapse;Perikaryon;Cell membrane;Axon;Dendrite;Postsynaptic cell membrane;Sarcolemma;Membrane;Lateral cell membrane Epileptic encephalopathy, early infantile, 26 6 PE1 -NX_Q14722 46563 419 9.1 3 Cytoplasm;Cell membrane;Membrane NA 0 PE1 -NX_Q14728 48339 455 9.68 4 Nucleoplasm;Nucleus membrane;Membrane NA 11 PE1 -NX_Q14738 69992 602 8.24 6 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Mental retardation, autosomal dominant 35 0 PE1 -NX_Q14739 70703 615 9.41 1 Nucleus inner membrane;Nucleus membrane Reynolds syndrome;Pelger-Huet anomaly with mild skeletal anomalies;Pelger-Huet anomaly;Greenberg dysplasia 8 PE1 -NX_Q14746 83208 738 6.2 1 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2Q 0 PE1 -NX_Q14749 32742 295 6.55 6 Cytosol;Cytoplasm Glycine N-methyltransferase deficiency 0 PE1 -NX_Q14761 21196 206 4.39 11 Membrane NA 1 PE1 -NX_Q14764 99327 893 5.34 16 Cytosol;Cytoplasm;Nuclear pore complex;Perinuclear region NA 0 PE1 -NX_Q14765 85941 748 6.2 2 Cytoplasm;Nucleus Rheumatoid arthritis;Systemic lupus erythematosus 11 0 PE1 -NX_Q14766 186796 1721 5.63 2 Cytosol;Extracellular matrix;Secreted NA 0 PE1 -NX_Q14767 195052 1821 5.06 14 Nucleus;Extracellular matrix Glaucoma 3, primary congenital, D;Weill-Marchesani syndrome 3;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 0 PE1 -NX_Q14773 29265 271 10.13 19 Cell membrane;Secreted NA 1 PE1 -NX_Q14774 50789 488 8.7 1 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q14781 56081 532 10.02 17 Nucleoplasm;Nucleus;Chromosome 46,XY sex reversal 5 0 PE1 -NX_Q14789 376019 3259 4.96 3 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q14790 55391 479 5 2 Nucleoplasm;Cytoplasm;Cytosol Caspase-8 deficiency 0 PE1 -NX_Q147U1 60552 533 9.21 19 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q147U7 24598 214 9.2 3 Membrane NA 1 PE2 -NX_Q147X3 39320 362 5.38 14 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q14802 9263 87 6.8 19 Cell membrane NA 1 PE1 -NX_Q14807 73262 665 9.5 16 Nucleus speckle;Cytoskeleton;Nucleus Spondyloepimetaphyseal dysplasia with joint laxity, 2 0 PE1 -NX_Q14814 55938 521 7.73 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14831 102251 915 8.2 3 Cytosol;Cell membrane NA 7 PE1 -NX_Q14832 98879 879 7.93 7 Cell membrane NA 7 PE1 -NX_Q14833 101868 912 9.07 6 Cell membrane NA 7 PE1 -NX_Q14839 218005 1912 5.62 12 Nucleus;Centrosome Sifrim-Hitz-Weiss syndrome 0 PE1 -NX_Q14847 29717 261 6.61 17 Cytosol;Cytoplasm;Cell cortex;Cell membrane;Focal adhesion;Cytoskeleton NA 0 PE1 -NX_Q14849 50502 445 8.53 17 Late endosome membrane NA 4 PE1 -NX_Q14863 32645 301 9.24 12 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q14865 132375 1188 8.89 10 Cytosol;Nucleoplasm;Nucleus;Cell membrane;Endoplasmic reticulum Leukemia, acute lymphoblastic 0 PE1 -NX_Q14872 80957 753 5.14 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14894 33776 314 5.06 16 Cytosol;Cytoplasm Deafness, autosomal dominant, 40 0 PE1 -NX_Q14896 140762 1274 6.24 11 NA Cardiomyopathy, dilated 1MM;Cardiomyopathy, familial hypertrophic 4;Left ventricular non-compaction 10 0 PE1 -NX_Q14914 35870 329 8.45 9 Cytoplasm NA 0 PE1 -NX_Q14916 51132 467 8.89 6 Apical cell membrane;Golgi apparatus NA 10 PE1 -NX_Q14919 22350 205 5.04 11 Cytosol;Nucleus NA 0 PE1 -NX_Q14929 68488 603 9.36 9 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q14934 95449 902 5.29 14 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q14938 55098 502 8.9 19 Nucleus Sotos syndrome 2;Marshall-Smith syndrome 0 PE1 -NX_Q14940 99011 896 7.33 16 Cytosol;Nucleoplasm;Membrane NA 12 PE1 -NX_Q14943 42475 382 9.59 19 Cell membrane NA 1 PE1 -NX_Q14952 33717 304 6.1 19 Cell membrane NA 1 PE2 -NX_Q14953 33698 304 6.26 19 Cell membrane NA 1 PE1 -NX_Q14954 33618 304 6.09 19 Cell membrane NA 1 PE1 -NX_Q14956 63923 572 6.17 7 Early endosome membrane;Cell membrane;Melanosome membrane Amyloidosis, primary localized cutaneous, 3 1 PE1 -NX_Q14957 134209 1233 8.82 17 Postsynaptic cell membrane;Cell membrane NA 3 PE1 -NX_Q14964 25007 217 7.57 11 Phagosome membrane;Cell membrane;Phagosome;Lysosome NA 0 PE1 -NX_Q14966 220625 1978 6.02 2 Nucleoplasm;Nucleus speckle;Cytoplasmic vesicle NA 0 PE1 -NX_Q14973 38119 349 9.07 14 Membrane NA 8 PE1 -NX_Q14974 97170 876 4.68 17 Nucleoplasm;Cytoplasm;Cytosol;Nucleus envelope;Nucleus membrane NA 0 PE1 -NX_Q14978 73603 699 9.46 10 Cytoplasm;Nucleolus NA 0 PE1 -NX_Q14980 238260 2115 5.63 11 Nucleoplasm;Cell cortex;Cell membrane;Spindle pole;Cytosol;Nucleus matrix;Nucleus;Cytoskeleton;Centrosome;Chromosome;Lateral cell membrane NA 0 PE1 -NX_Q14982 38008 345 6.45 11 Cell membrane Ovarian cancer 0 PE1 -NX_Q14990 28366 250 8.46 8 NA NA 0 PE1 -NX_Q14993 115221 1142 8.57 6 Extracellular matrix NA 0 PE1 -NX_Q14994 39942 352 8.55 1 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q14995 64625 579 8.04 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14997 211334 1843 6.45 2 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q14999 191161 1698 5.57 6 Cytoplasm;Perinuclear region;Centrosome;Golgi apparatus 3M syndrome 1 0 PE1 -NX_Q149M9 174552 1564 6.28 19 Cytosol NA 0 PE1 -NX_Q149N8 193079 1683 7.3 6 Mitochondrion NA 0 PE1 -NX_Q14BN4 95198 828 5.35 3 Sarcolemma;Centrosome;Endoplasmic reticulum NA 1 PE1 -NX_Q14C86 164980 1478 5.09 9 Cytosol;Endosome;Membrane NA 0 PE1 -NX_Q14C87 122309 1099 5.5 12 Membrane NA 1 PE1 -NX_Q14CB8 55756 494 9.41 10 Nucleus;Cell membrane NA 0 PE1 -NX_Q14CM0 144379 1322 5.12 X Dendritic spine Mental retardation, X-linked 104 0 PE1 -NX_Q14CN2 101283 919 5.27 1 Apical cell membrane;Cell membrane;Secreted NA 1 PE1 -NX_Q14CN4 55877 511 6.53 12 NA NA 0 PE1 -NX_Q14CS0 37077 331 5.49 8 Golgi apparatus;Cytosol;Endoplasmic reticulum;Nucleoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q14CW9 38651 347 6.62 17 Nucleus speckle;Nucleus;Cell membrane NA 0 PE1 -NX_Q14CX5 57381 517 8.21 10 Cytosol;Golgi apparatus;Membrane NA 11 PE2 -NX_Q14CX7 112292 972 6.21 12 Cytosol;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q14CZ0 30926 275 7.77 16 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q14CZ7 75689 662 8.62 5 Mitochondrion;Nucleus NA 0 PE1 -NX_Q14CZ8 46026 416 9.2 11 Cytoplasmic vesicle;Cytoplasm;Membrane Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A;Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B 1 PE1 -NX_Q14D04 94745 833 6.26 3 Cytosol;Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_Q14D33 60488 572 6.12 2 Membrane NA 1 PE1 -NX_Q14DG7 119477 1078 4.63 12 Membrane NA 1 PE1 -NX_Q15003 82563 741 4.92 2 Cytosol;Cytoplasm;Nucleus;Chromosome Microcephaly 23, primary, autosomal recessive 0 PE1 -NX_Q15004 11986 111 9.85 15 Perinuclear region;Nucleus;Centrosome NA 0 PE1 -NX_Q15005 25003 226 8.69 11 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Cell membrane;Microsome membrane NA 2 PE1 -NX_Q15006 34834 297 6.15 8 Cytoplasm;Nucleus NA 0 PE1 -NX_Q15007 44244 396 5.12 6 Nucleoplasm;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q15008 45531 389 5.45 3 Cytoplasmic vesicle;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q15011 43720 391 5.11 16 Endoplasmic reticulum membrane;Cytosol;Cell membrane NA 2 PE1 -NX_Q15012 26801 233 6.1 2 Cytoplasmic vesicle;Cell membrane;Golgi apparatus;Endomembrane system NA 4 PE1 -NX_Q15013 31052 274 5.94 6 Spindle;Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q15014 32308 288 9.72 X Nucleus NA 0 PE1 -NX_Q15018 46901 415 5.83 10 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Spindle pole NA 0 PE1 -NX_Q15019 41487 361 6.15 2 Kinetochore;Cytoskeleton;Flagellum;Cleavage furrow;Cytoplasm;Cell cortex;Cilium membrane;Nucleus;Spindle;Midbody NA 0 PE1 -NX_Q15020 109935 963 5.45 12 Nucleoplasm;Cajal body;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q15021 157182 1401 6.19 12 Cytosol;Cytoplasm;Nucleus;Chromosome Microcephaly 21, primary, autosomal recessive 0 PE1 -NX_Q15022 83055 739 8.98 17 Nucleolus;Nucleus NA 0 PE1 -NX_Q15024 31821 291 5.08 3 Nucleus speckle;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q15025 71864 636 6.23 5 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q15027 81536 740 7.6 17 Cytoplasm;Recycling endosome membrane;Golgi apparatus NA 0 PE1 -NX_Q15029 109436 972 4.84 17 Nucleoplasm;Cytosol;Nucleus Mandibulofacial dysostosis with microcephaly 0 PE1 -NX_Q15031 101976 903 8.46 3 Mitochondrion;Mitochondrion matrix;Nucleoplasm Hydrops, lactic acidosis, and sideroblastic anemia;Perrault syndrome 4 0 PE1 -NX_Q15032 120696 1099 8.91 2 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q15034 117188 1050 5.86 4 Cytoplasmic vesicle;Cytoplasm;Cytosol NA 0 PE1 -NX_Q15035 43328 370 9.32 6 Cytosol;Membrane NA 8 PE1 -NX_Q15036 52901 470 7.07 2 Cytoplasmic vesicle;Cytoplasm;Cytoplasmic vesicle membrane;Early endosome NA 0 PE1 -NX_Q15038 17319 168 6.69 12 Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q15040 23198 202 8.78 22 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q15041 23363 203 9.38 16 Endoplasmic reticulum membrane;Cytoplasm;Cell membrane;Endoplasmic reticulum;Endomembrane system Spastic paraplegia 61, autosomal recessive 3 PE1 -NX_Q15042 110524 981 5.38 2 Cytosol;Nucleoplasm;Cytoplasm Warburg micro syndrome 1 0 PE1 -NX_Q15043 54212 492 5.16 8 Cytoplasm;Endoplasmic reticulum;Golgi apparatus;Cell membrane;Lamellipodium Hyperostosis cranialis interna;Hypermanganesemia with dystonia 2 6 PE1 -NX_Q15046 68048 597 5.94 16 Secreted;Cytosol;Cytoplasm;Cell membrane;Nucleus;Mitochondrion Charcot-Marie-Tooth disease, recessive, intermediate type, B;Deafness, autosomal recessive, 89 0 PE1 -NX_Q15047 143157 1291 5.74 1 Nucleoplasm;Cytosol;Nucleus;Chromosome NA 0 PE1 -NX_Q15048 54513 493 6.43 8 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q15049 41141 377 7.46 22 Perinuclear region;Endoplasmic reticulum;Cell membrane;Membrane Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 8 PE1 -NX_Q15050 41193 365 10.69 8 Nucleolus NA 0 PE1 -NX_Q15051 68929 598 9.19 3 Centriole;Spindle;Cytoskeleton;Centrosome Leber congenital amaurosis 10;Senior-Loken syndrome 5 0 PE1 -NX_Q15052 87499 776 5.79 X Cytosol;Lamellipodium Mental retardation, X-linked 46 0 PE1 -NX_Q15053 11435 99 9.54 1 Membrane NA 1 PE1 -NX_Q15054 51400 466 9.38 11 Cytoplasm;Nucleus NA 0 PE1 -NX_Q15056 27385 248 6.67 7 Cytosol;Cytoplasm;Perinuclear region;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q15057 88029 778 6.38 3 Endosome membrane;Endosome NA 0 PE1 -NX_Q15058 186492 1648 8.06 1 Cytosol;Cytoplasm;Midbody ring;Nucleus;Spindle;Midbody Microcephaly 20, primary, autosomal recessive;Meckel syndrome 12 0 PE1 -NX_Q15059 79542 726 9.39 9 Nucleus NA 0 PE1 -NX_Q15061 74891 677 5.37 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q15063 93314 836 7.27 13 Nucleoplasm;Extracellular matrix;Golgi apparatus;Secreted NA 0 PE1 -NX_Q15067 74424 660 8.35 17 Cytoplasmic vesicle;Nucleus;Peroxisome Adrenoleukodystrophy, pseudoneonatal 0 PE1 -NX_Q15070 48548 435 9.53 14 Mitochondrion;Mitochondrion inner membrane NA 5 PE1 -NX_Q15072 33308 292 9.15 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q15075 162466 1411 5.55 12 Cytoplasmic vesicle;Cytoplasm;Early endosome membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q15077 36429 328 9.61 11 Cell membrane NA 7 PE1 -NX_Q15078 34060 307 9.44 17 Cytoplasmic vesicle;Nucleoplasm;Perinuclear region;Nucleus;Cell membrane NA 0 PE1 -NX_Q15080 39032 339 6.4 22 Endosome membrane;Cytosol;Membrane Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive 0 PE1 -NX_Q15084 48121 440 4.95 2 Cytosol;Endoplasmic reticulum lumen;Melanosome;Cell membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q15102 25734 231 6.33 19 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q15109 42803 404 5.83 6 Nucleolus;Cell junction;Cell membrane;Secreted NA 1 PE1 -NX_Q15111 122728 1095 5.46 2 Cytoplasm NA 0 PE1 -NX_Q15113 47972 449 7.41 7 Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 -NX_Q15116 31647 288 8.25 2 Membrane Systemic lupus erythematosus 2 1 PE1 -NX_Q15118 49244 436 8.92 2 Mitochondrion matrix;Mitochondrion;Nucleolus NA 0 PE1 -NX_Q15119 46154 407 6.14 17 Mitochondrion;Mitochondrion matrix;Nucleoplasm NA 0 PE1 -NX_Q15120 46939 406 8.46 X Mitochondrion matrix;Mitochondrion;Nucleolus Charcot-Marie-Tooth disease, X-linked dominant, 6 0 PE1 -NX_Q15121 15040 130 4.93 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q15124 62225 567 6.81 9 Adherens junction;Cytoskeleton NA 0 PE1 -NX_Q15125 26353 230 7.76 X Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nucleus envelope;Endoplasmic reticulum MEND syndrome;Chondrodysplasia punctata 2, X-linked dominant 4 PE1 -NX_Q15126 21995 192 5.56 1 Cytosol Porokeratosis 1, multiple types 0 PE1 -NX_Q15131 41038 360 9.06 16 Nucleoplasm;Midbody ring;Midbody;Cilium basal body Al Kaissi syndrome 0 PE1 -NX_Q15139 101704 912 6.16 14 Cytosol;Cytoplasm;trans-Golgi network;Cell membrane Congenital heart defects and ectodermal dysplasia 0 PE1 -NX_Q15147 134464 1175 6.47 20 Nucleoplasm;Cytoskeleton Auriculocondylar syndrome 2 0 PE1 -NX_Q15149 531791 4684 5.74 8 Cytosol;Cytoplasm;Focal adhesion;Hemidesmosome;Cytoskeleton Limb-girdle muscular dystrophy 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia 0 PE1 -NX_Q15154 228544 2024 4.95 8 Nucleus membrane;Cytosol;Cytoplasmic granule;Centriolar satellite;Cytoskeleton;Centrosome;Cilium basal body NA 0 PE1 -NX_Q15155 134324 1222 5.54 16 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_Q15165 39381 354 5.33 7 Membrane NA 0 PE1 -NX_Q15166 39607 354 5.24 7 Extracellular space NA 0 PE1 -NX_Q15170 18354 157 11.2 X Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15172 56194 486 6.28 1 Cytosol;Cytoplasm;Centromere;Nucleus NA 0 PE1 -NX_Q15173 57393 497 6.27 11 Cytoplasm NA 0 PE1 -NX_Q15181 32660 289 5.54 10 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q15185 18697 160 4.35 12 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q15195 10915 96 6.11 2 Secreted NA 0 PE2 -NX_Q15198 41861 375 8.75 8 Nucleolus;Nucleus;Golgi apparatus;Secreted Colorectal cancer 0 PE1 -NX_Q15208 54190 465 6.7 6 Cytoplasm;Nucleus NA 0 PE1 -NX_Q15223 57158 517 5.77 11 Presynaptic cell membrane;Cell membrane;Secreted Non-syndromic orofacial cleft 7;Ectodermal dysplasia, Margarita Island type 1 PE1 -NX_Q15233 54232 471 9.01 X Nucleoplasm;Nucleus speckle;Nucleolus;Nucleus Mental retardation, X-linked, syndromic, 34 0 PE1 -NX_Q15238 37713 335 9 19 Secreted NA 0 PE1 -NX_Q15256 73834 657 8.62 12 Cytosol;Perinuclear region;Cell junction;Cell membrane NA 1 PE1 -NX_Q15257 40668 358 5.63 9 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q15262 162102 1439 5.59 6 Cytoplasmic vesicle;Adherens junction;Cell junction;Cell membrane NA 1 PE1 -NX_Q15269 102452 919 5.76 21 Cytosol;Nucleolus NA 0 PE1 -NX_Q15270 40659 411 5.93 4 Nucleus NA 0 PE2 -NX_Q15274 30846 297 5.81 16 NA NA 0 PE1 -NX_Q15276 99290 862 4.95 17 Cytoplasmic vesicle;Cytoplasm;Recycling endosome;Early endosome NA 0 PE1 -NX_Q15283 96614 850 6.84 3 Cytoplasmic vesicle;Cytoplasm;Perinuclear region NA 0 PE1 -NX_Q15286 23025 201 8.53 12 Clathrin-coated pit;Endosome;Clathrin-coated vesicle;Cell membrane;Melanosome NA 0 PE1 -NX_Q15287 34208 305 11.85 16 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q15291 59153 538 4.96 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q15293 38890 331 4.86 11 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 -NX_Q15303 146808 1308 5.98 2 Mitochondrion;Nucleus;Cell membrane Amyotrophic lateral sclerosis 19 1 PE1 -NX_Q15306 51772 451 6.39 6 Nucleoplasm;Nucleus Multiple myeloma 0 PE1 -NX_Q15311 76063 655 5.68 18 Cytosol;Cytoplasmic vesicle;Nucleus membrane;Membrane NA 0 PE1 -NX_Q15319 37052 338 9.16 5 Nucleoplasm;Cytoplasm;Nucleus Deafness, autosomal dominant, 15 0 PE1 -NX_Q15323 47237 416 4.84 17 NA NA 0 PE1 -NX_Q15326 70963 602 8.83 10 Nucleoplasm;Nucleus;Chromosome Mental retardation, autosomal dominant 30 0 PE1 -NX_Q15327 36252 319 7.12 10 Nucleolus;Nucleus Total anomalous pulmonary venous return 0 PE1 -NX_Q15329 37610 346 4.94 8 Nucleolus;Nucleus NA 0 PE1 -NX_Q15334 115418 1064 5.87 17 Axon;Golgi apparatus membrane;Cytoskeleton;Early endosome membrane;trans-Golgi network membrane NA 0 PE1 -NX_Q15345 88650 812 8.75 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15349 83239 733 8.82 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q15361 103051 905 9.41 9 Nucleolus;Nucleus NA 0 PE1 -NX_Q15363 22761 201 5.08 12 Endoplasmic reticulum membrane;Golgi stack membrane;COPI-coated vesicle membrane;Cytoplasmic vesicle;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cytoplasmic vesicle membrane NA 1 PE1 -NX_Q15365 37498 356 6.66 2 Cytosol;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q15366 38580 365 6.33 12 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q15369 12473 112 4.74 8 Nucleus;Cell junction NA 0 PE1 -NX_Q15370 13133 118 4.73 16 Nucleus NA 0 PE1 -NX_Q15375 112097 998 5.58 6 Cell membrane NA 1 PE1 -NX_Q15382 20497 184 5.65 7 Endoplasmic reticulum membrane;Cytosol;Golgi apparatus membrane;Endomembrane system NA 0 PE1 -NX_Q15386 123923 1083 6.27 7 Mitochondrion;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q15388 16298 145 8.81 1 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_Q15389 57513 498 6.3 8 Secreted NA 0 PE1 -NX_Q15390 37000 333 9.1 8 Cytosol;Mitochondrion NA 0 PE1 -NX_Q15391 38971 338 9.54 3 Cell membrane NA 7 PE2 -NX_Q15392 60101 516 8.42 1 Endoplasmic reticulum membrane;Golgi apparatus membrane Desmosterolosis 1 PE1 -NX_Q15393 135577 1217 5.13 16 Nucleolus;Nucleus NA 0 PE1 -NX_Q15397 73584 648 9.65 9 Nucleoplasm;Nucleolus;Chromosome NA 0 PE1 -NX_Q15398 95115 846 9.11 14 Cytosol;Cytoplasm;Spindle;Nucleus;Microtubule organizing center NA 0 PE1 -NX_Q15399 90291 786 6.62 4 Phagosome membrane;Golgi apparatus;Membrane raft;Cell membrane NA 1 PE1 -NX_Q15404 31540 277 8.57 10 Cytoplasmic vesicle NA 0 PE1 -NX_Q15406 54383 480 5.87 9 Nucleus NA 0 PE1 -NX_Q15413 552042 4870 5.47 15 Cytoplasmic vesicle;Microsome membrane;Sarcoplasmic reticulum;Sarcoplasmic reticulum membrane;Membrane NA 7 PE1 -NX_Q15415 55728 496 9.89 Y Nucleus NA 0 PE1 -NX_Q15417 36414 329 5.69 1 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q15418 82723 735 7.68 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q15424 102642 915 5.32 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15427 44386 424 8.55 1 Nucleus speckle;Nucleus Acrofacial dysostosis 1, Nager type 0 PE1 -NX_Q15428 49256 464 9.65 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15431 114192 976 5.78 1 Centromere;Nucleus;Chromosome NA 0 PE1 -NX_Q15434 43959 407 9.15 12 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q15435 41564 360 4.84 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q15436 86161 765 6.64 14 Cytoplasmic vesicle;Nucleoplasm;COPII-coated vesicle membrane;Endoplasmic reticulum membrane;Cytosol Craniolenticulosutural dysplasia 0 PE1 -NX_Q15437 86479 767 6.43 20 Cytosol;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Cytoplasmic vesicle Cowden syndrome 7;Anemia, congenital dyserythropoietic, 2 0 PE1 -NX_Q15438 46413 398 5.41 17 Nucleolus;Cytosol;Cell membrane;Nucleus;Adherens junction;Tight junction NA 0 PE1 -NX_Q15459 88886 793 5.15 22 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q15464 55042 509 9.1 9 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q15465 49607 462 8.1 7 Cell membrane Hypoplasia or aplasia of tibia with polydactyly;Preaxial polydactyly 2;Microphthalmia, isolated, with coloboma, 5;Holoprosencephaly 3;Laurin-Sandrow syndrome;Triphalangeal thumb-polysyndactyly syndrome;Solitary median maxillary central incisor 0 PE1 -NX_Q15466 28058 257 8.28 1 Cytoplasm;Nucleus Obesity 0 PE1 -NX_Q15468 142955 1287 6.01 1 Cytosol;Centriole;Cell membrane Microcephaly 7, primary, autosomal recessive 0 PE1 -NX_Q15475 32210 284 9.24 14 Cytoplasm;Nucleolus;Nucleus Deafness, autosomal dominant, 23;Branchiootic syndrome 3 0 PE1 -NX_Q15477 137755 1246 5.72 6 Nucleoplasm;Cytoplasm;Nucleus Trichohepatoenteric syndrome 2 0 PE1 -NX_Q15485 34001 313 6.31 9 Secreted NA 0 PE1 -NX_Q15486 15381 140 5.71 5 NA NA 0 PE5 -NX_Q15493 33253 299 5.89 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q15506 17406 151 4.76 11 Cytoplasmic vesicle;Membrane NA 0 PE1 -NX_Q15513 7515 63 8.46 1 NA NA 0 PE4 -NX_Q15517 51522 529 8.69 6 Secreted Peeling skin syndrome 1;Hypotrichosis 2 0 PE1 -NX_Q15526 33331 300 9.64 9 Mitochondrion inner membrane Charcot-Marie-Tooth disease 4K;Leigh syndrome 2 PE1 -NX_Q15527 29648 256 9.33 9 Nucleolus;Nucleus NA 0 PE1 -NX_Q15528 22221 200 4.56 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15532 45929 418 5.95 18 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q15542 86830 800 5.4 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15543 14287 124 4.72 1 Nucleolus;Nucleus Mental retardation, autosomal recessive 60 0 PE1 -NX_Q15544 23307 211 4.78 6 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q15545 40259 349 5.07 5 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q15546 27667 238 9.09 17 Cytoplasmic vesicle;Lysosome membrane;Late endosome membrane NA 7 PE2 -NX_Q15554 59594 542 9.38 16 Nucleus;Telomere NA 0 PE1 -NX_Q15555 37031 327 5.36 18 Nucleoplasm;Cytoskeleton Skin creases, congenital symmetric circumferential, 2 0 PE1 -NX_Q15560 33601 299 9.32 20 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q15561 48329 434 6.88 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15562 49243 447 6.06 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15569 67684 626 8.44 9 NA NA 0 PE1 -NX_Q15572 95213 869 8.91 16 Nucleolus;Nucleus NA 0 PE1 -NX_Q15573 52676 450 9.15 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15582 74681 683 7.62 5 Secreted;Extracellular matrix Corneal dystrophy, lattice type 1;Corneal dystrophy, Avellino type;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, lattice type 3A;Corneal dystrophy, Thiel-Behnke type;Corneal dystrophy, epithelial basement membrane;Corneal dystrophy, Groenouw type 1 0 PE1 -NX_Q15583 43013 401 9.17 18 Nucleoplasm;Nucleus Holoprosencephaly 4 0 PE1 -NX_Q15596 159157 1464 6.19 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15599 37414 337 7.8 16 Apical cell membrane;Nucleus;Cell membrane;Endomembrane system NA 0 PE1 -NX_Q155Q3 77478 683 5.85 11 Cytosol;Cytoplasm;Focal adhesion;Stress fiber NA 0 PE1 -NX_Q15612 35598 314 9.12 9 Cell membrane NA 7 PE2 -NX_Q15615 35240 310 8.74 17 Cell membrane NA 7 PE2 -NX_Q15617 34904 311 8.37 11 Cell membrane NA 7 PE2 -NX_Q15619 35042 314 8.18 1 Cell membrane NA 7 PE2 -NX_Q15620 34482 311 8.28 11 Cell membrane NA 7 PE2 -NX_Q15622 35579 319 8.33 19 Cell membrane NA 7 PE2 -NX_Q15628 34247 312 5.94 16 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q15629 43072 374 9.65 8 Endoplasmic reticulum membrane NA 8 PE1 -NX_Q15631 26183 228 6.01 2 Cytoplasm;Nucleus NA 0 PE1 -NX_Q15633 39039 366 6.11 12 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 -NX_Q15637 68330 639 9.07 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15642 68352 601 5.55 19 Phagocytic cup;Golgi apparatus;Lysosome;Nucleoplasm;Cell cortex;Cell membrane;Cytoplasmic vesicle;Perinuclear region;Cytoskeleton NA 0 PE1 -NX_Q15643 227586 1979 5.18 14 cis-Golgi network membrane;Cytoskeleton;Nucleus;Golgi apparatus Achondrogenesis 1A 0 PE1 -NX_Q15645 48551 432 5.73 5 Nucleus Mosaic variegated aneuploidy syndrome 3 0 PE1 -NX_Q15646 59226 514 7.96 12 Cytosol;Cytoplasm;Nucleolus;Nucleoplasm NA 0 PE1 -NX_Q15648 168478 1581 8.88 17 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15649 17607 155 5.51 17 Mitochondrion;Cytoplasm;Nucleus PEHO syndrome 0 PE1 -NX_Q15650 66146 581 8.05 15 Nucleoplasm;Cytosol;Nucleus;Centrosome Spinal muscular atrophy with congenital bone fractures 1;Muscular dystrophy, congenital, Davignon-Chauveau type 0 PE1 -NX_Q15651 10666 99 9.66 6 Cytosol;Nucleus NA 0 PE1 -NX_Q15652 284525 2540 7.95 10 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q15653 37771 356 4.7 19 Cytosol;Cytoplasm;Nucleus;Centrosome;Nucleoplasm NA 0 PE1 -NX_Q15654 50288 476 7.19 7 Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q15661 30515 275 6.62 16 Secreted NA 0 PE1 -NX_Q15669 21331 191 9.17 4 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q15672 20954 202 9.48 7 Nucleus Saethre-Chotzen syndrome;Sweeney-Cox syndrome;Robinow-Sorauf syndrome;Craniosynostosis 1 0 PE1 -NX_Q15678 135261 1187 8.53 1 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus Choanal atresia and lymphedema 0 PE1 -NX_Q15691 29999 268 5.02 20 Cytosol;Cytoskeleton;Centrosome;Golgi apparatus;Microtubule organizing center NA 0 PE1 -NX_Q15695 57643 479 9.44 5 Nucleus NA 0 PE5 -NX_Q15696 58045 482 9.75 X Nucleus NA 0 PE1 -NX_Q15697 46455 407 9.66 16 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q15699 36961 326 8.8 12 Nucleoplasm;Nucleus;Golgi apparatus Frontonasal dysplasia 3 0 PE1 -NX_Q156A1 10272 80 5.28 13 Nucleus Spinocerebellar ataxia 8 0 PE1 -NX_Q15700 97552 870 6.03 11 Axon;Synapse;Cell membrane;Cytoplasmic vesicle;Membrane;Postsynaptic density NA 0 PE1 -NX_Q15714 109677 1073 5.38 13 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q15717 36092 326 9.23 19 Cytosol;Cytoplasm;Nucleolus;Nucleus;Stress granule NA 0 PE1 -NX_Q15722 37557 352 11.11 14 Cell membrane NA 7 PE1 -NX_Q15723 63967 593 6.15 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15726 14705 138 10.17 1 Cytoplasmic vesicle;Secreted Hypogonadotropic hypogonadism 13 with or without anosmia 0 PE1 -NX_Q15735 107197 1006 9.22 22 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q15738 41900 373 8.16 X Endoplasmic reticulum membrane;Lipid droplet;Endoplasmic reticulum CK syndrome;Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 1 PE1 -NX_Q15742 56594 525 6.5 12 Cytosol;Nucleus NA 0 PE1 -NX_Q15743 41077 365 7.87 14 Cell membrane Amelogenesis imperfecta, hypomaturation type, 2A6 7 PE1 -NX_Q15744 30603 281 9.13 14 Nucleoplasm;Nucleus Specific granule deficiency 1 0 PE1 -NX_Q15746 210715 1914 5.85 3 Stress fiber;Cleavage furrow;Cytoplasm;Cell membrane;Lamellipodium;Cytoskeleton Aortic aneurysm, familial thoracic 7 0 PE1 -NX_Q15750 54644 504 5.31 22 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q15751 532228 4861 5.69 15 Cytosol;Golgi apparatus;Membrane Macrocephaly, dysmorphic facies, and psychomotor retardation 0 PE1 -NX_Q15758 56598 541 5.34 19 Melanosome;Cell membrane NA 8 PE1 -NX_Q15759 41357 364 5.56 22 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 -NX_Q15760 47687 415 9.6 12 Cell membrane NA 7 PE1 -NX_Q15761 50727 445 9 4 Cell membrane NA 7 PE2 -NX_Q15762 38614 336 8.11 18 Midbody;Cell membrane NA 1 PE1 -NX_Q15768 35835 340 8.85 17 Nucleoplasm;Membrane NA 1 PE1 -NX_Q15771 23058 203 4.91 11 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus;trans-Golgi network;Membrane NA 0 PE1 -NX_Q15772 354289 3267 8.82 2 Cytoplasmic vesicle;Nucleus Myopathy, centronuclear, 5 0 PE1 -NX_Q15773 28147 248 6.4 12 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q15776 65816 578 7.04 6 Cytosol;Nucleus NA 0 PE1 -NX_Q15777 33360 294 5.85 11 Cytoplasmic vesicle;Mitochondrion;Nucleolus NA 0 PE1 -NX_Q15782 43501 390 7.11 1 Secreted NA 0 PE1 -NX_Q15784 41361 382 6.29 17 Nucleus NA 0 PE1 -NX_Q15785 34559 309 9.12 20 Cytosol;Cytoplasm;Mitochondrion outer membrane NA 0 PE1 -NX_Q15788 156757 1441 5.84 2 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q15796 52306 467 6.13 18 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q15797 52260 465 6.9 4 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q15800 35216 293 6.75 4 Endoplasmic reticulum membrane Microcephaly, congenital cataract, and psoriasiform dermatitis 3 PE1 -NX_Q15811 195422 1721 7.76 21 Synaptosome;Cytoplasm;Clathrin-coated pit;Nucleus envelope;Cell membrane;Endomembrane system;Lamellipodium NA 0 PE1 -NX_Q15813 59346 527 6.32 1 Cytoplasm;Cytoskeleton Kenny-Caffey syndrome 1;Hypoparathyroidism-retardation-dysmorphism syndrome;Encephalopathy, progressive, with amyotrophy and optic atrophy 0 PE1 -NX_Q15814 39248 346 5.55 6 Cytosol;Cytoplasm NA 0 PE1 -NX_Q15818 47122 432 6.16 17 Secretory vesicle NA 0 PE1 -NX_Q15819 16363 145 7.79 8 Cytoplasm;Nucleus NA 0 PE1 -NX_Q15822 59765 529 5.69 8 Postsynaptic cell membrane;Cell membrane Epilepsy, nocturnal frontal lobe, 4;Seizures, benign familial infantile, 6 4 PE1 -NX_Q15825 56898 494 6.16 8 Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_Q15828 16511 149 8.32 11 Cytosol;Cell membrane;Secreted NA 0 PE1 -NX_Q15831 48636 433 7.12 19 Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Membrane;Mitochondrion Peutz-Jeghers syndrome;Testicular germ cell tumor 0 PE1 -NX_Q15833 66453 593 6.11 19 Cytosol Familial hemophagocytic lymphohistiocytosis 5 0 PE1 -NX_Q15834 22091 202 5.06 11 Nucleus;Centrosome NA 0 PE1 -NX_Q15835 63526 563 5.63 13 Membrane Night blindness, congenital stationary, Oguchi type 2 0 PE1 -NX_Q15836 11309 100 8.89 1 Synaptosome;Membrane NA 1 PE1 -NX_Q15842 47968 424 9.38 12 Membrane Sudden infant death syndrome;Hypertrichotic osteochondrodysplasia 2 PE1 -NX_Q15843 9072 81 7.99 14 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15846 54215 466 5.09 18 Cell membrane;Endoplasmic reticulum;Secreted NA 0 PE1 -NX_Q15847 7855 76 5.17 10 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q15848 26414 244 5.42 3 Secreted Adiponectin deficiency;Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_Q15849 101209 920 6.51 18 Apical cell membrane NA 17 PE1 -NX_Q15853 36955 346 4.97 19 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q15858 226372 1988 6.55 2 Focal adhesion;Cell projection;Cytoskeleton;Cell membrane Primary erythermalgia;Generalized epilepsy with febrile seizures plus 7;Indifference to pain, congenital, autosomal recessive;Paroxysmal extreme pain disorder;Febrile seizures, familial, 3B 24 PE1 -NX_Q15878 261731 2313 8.52 1 Cytosol;Cytoskeleton;Cell membrane;Membrane NA 24 PE1 -NX_Q15884 49703 450 6.57 9 Membrane NA 1 PE1 -NX_Q15904 52026 470 5.73 X Endoplasmic reticulum membrane;Cytosol;Cell membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum;Cytoskeleton Immunodeficiency 47 1 PE1 -NX_Q15906 40594 364 6.09 1 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q15907 24489 218 5.64 19 Cytoplasmic vesicle;Phagosome membrane;Synaptic vesicle membrane;Recycling endosome membrane;Microtubule organizing center Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 0 PE1 -NX_Q15910 85363 746 6.65 7 Nucleoplasm;Nucleus Weaver syndrome 0 PE1 -NX_Q15911 404419 3703 5.82 16 Cytoplasm;Nucleus NA 0 PE1 -NX_Q15915 48309 447 8.7 3 Nucleoplasm;Cytoplasm;Nucleus Craniosynostosis 6 0 PE1 -NX_Q15916 48236 424 6.29 9 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15928 55249 474 9.43 4 Nucleus Polydactyly, postaxial A6 0 PE1 -NX_Q15929 18651 161 8.85 19 Nucleus NA 0 PE5 -NX_Q15935 61964 545 9.04 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q15937 55350 498 8.54 9 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q15940 22988 193 9.85 19 NA NA 0 PE5 -NX_Q15942 61277 572 6.22 7 Cytoplasm;Focal adhesion;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q15973 40217 351 9.11 1 Nucleus;Nucleus membrane NA 0 PE1 -NX_Q16048 9715 86 6.72 5 NA NA 0 PE5 -NX_Q16082 20233 182 5.07 11 Cytoplasm;Nucleus NA 0 PE1 -NX_Q16099 107246 956 6.3 11 Postsynaptic cell membrane;Cell membrane NA 3 PE2 -NX_Q16134 68495 617 7.31 4 Mitochondrion inner membrane Glutaric aciduria 2C 0 PE1 -NX_Q16143 14288 134 4.41 5 Cytoplasm NA 0 PE1 -NX_Q16181 50680 437 8.76 7 Kinetochore;Nucleolus;Flagellum;Cleavage furrow;Cytoplasm;Midbody;Cilium axoneme;Spindle;Cytoskeleton NA 0 PE1 -NX_Q16186 42153 407 4.96 20 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q16204 53291 474 6.87 10 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q16206 70082 610 5.67 X Extracellular space;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 -NX_Q16222 58769 522 5.92 1 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_Q16236 67827 605 4.67 2 Cytosol;Cytoplasm;Nucleus;Cell membrane Immunodeficiency, developmental delay, and hypohomocysteinemia 0 PE1 -NX_Q16254 43960 413 4.66 16 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q16270 29130 282 8.25 4 Golgi apparatus;Secreted Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 0 PE1 -NX_Q16280 76048 664 5.88 X Membrane NA 6 PE2 -NX_Q16281 78838 694 7.56 2 Membrane Achromatopsia 2 6 PE1 -NX_Q16288 94428 839 6.12 15 Nucleolus;Nucleus membrane;Membrane NA 1 PE1 -NX_Q16322 57785 511 4.85 1 Cytosol;Nucleoplasm;Membrane NA 6 PE1 -NX_Q16342 38592 344 5.25 6 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q16348 81783 729 8.4 3 Cell membrane NA 12 PE1 -NX_Q16352 55391 499 5.34 10 Nucleoplasm;Cytoskeleton;Nucleus membrane NA 0 PE1 -NX_Q16363 202524 1823 5.89 6 Cytosol;Basement membrane;Cell membrane Cardiomyopathy, dilated 1JJ 0 PE1 -NX_Q16378 15097 134 6.5 12 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q16384 21931 188 9.46 X NA NA 0 PE1 -NX_Q16385 21620 188 5.61 X Nucleus NA 0 PE1 -NX_Q16394 86255 746 9.16 8 Endoplasmic reticulum membrane;Golgi apparatus membrane Chondrosarcoma;Hereditary multiple exostoses 1;Tricho-rhino-phalangeal syndrome 2 1 PE1 -NX_Q16401 56196 504 5.35 9 Cytosol;Nucleus NA 0 PE1 -NX_Q16445 51024 453 8.39 5 Postsynaptic cell membrane;Cell membrane NA 4 PE2 -NX_Q16473 33740 311 5.29 6 NA NA 0 PE5 -NX_Q16478 109265 980 8.54 19 Postsynaptic cell membrane;Nucleus;Cell membrane NA 3 PE1 -NX_Q16512 103932 942 5.99 19 Endosome;Cleavage furrow;Cytosol;Cytoplasm;Cell membrane;Nucleus;Midbody NA 0 PE1 -NX_Q16513 112035 984 5.95 1 Cleavage furrow;Cytosol;Cytoplasm;Cell membrane;Midbody;Nucleoplasm;Nucleus;Membrane;Lamellipodium;Cytoskeleton;Cell junction NA 0 PE1 -NX_Q16514 17924 161 7.78 1 Nucleus NA 0 PE1 -NX_Q16515 57709 512 5.07 17 Cell membrane NA 2 PE1 -NX_Q16517 9237 81 10.17 20 NA NA 0 PE2 -NX_Q16518 60948 533 6.05 1 Microsome membrane;Cell membrane;Cytoplasm Leber congenital amaurosis 2;Retinitis pigmentosa 20 0 PE1 -NX_Q16520 14120 125 8.82 14 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q16526 66395 586 8.27 12 Cytoplasm;Cytoskeleton;Nucleus;Nucleus membrane Delayed sleep phase syndrome 0 PE1 -NX_Q16527 20954 193 8.95 12 Nucleus NA 0 PE1 -NX_Q16531 126968 1140 5.14 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q16533 42994 368 9.53 14 Nucleolus;Nucleus NA 0 PE1 -NX_Q16534 33199 295 7.76 17 Nucleus NA 0 PE2 -NX_Q16537 54699 467 6.51 14 Cytosol;Cytoplasm NA 0 PE1 -NX_Q16538 63930 588 8.83 12 Cell membrane;Microtubule organizing center NA 7 PE1 -NX_Q16539 41293 360 5.48 6 Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q16540 17781 153 9.69 11 Mitochondrion;Nucleolus NA 0 PE1 -NX_Q16543 44468 378 5.17 19 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q16548 20132 175 5.32 15 Cytoplasm NA 0 PE1 -NX_Q16549 86247 785 5.51 11 Nucleus;Nucleolus;trans-Golgi network membrane;Nucleus membrane NA 1 PE1 -NX_Q16552 17504 155 8.82 6 Secreted NA 0 PE1 -NX_Q16553 13507 131 8.06 8 Cell membrane NA 0 PE1 -NX_Q16555 62294 572 5.95 8 Cytosol;Cytoskeleton;Cell membrane;Membrane NA 0 PE1 -NX_Q16557 47945 428 8.74 19 Secreted NA 0 PE1 -NX_Q16558 21797 191 9.12 5 Membrane NA 2 PE1 -NX_Q16559 12291 108 10.48 9 Cytosol NA 0 PE1 -NX_Q16560 29450 246 9.86 12 Nucleolus;Nucleus NA 0 PE1 -NX_Q16563 28565 259 8.69 7 Cytoplasmic vesicle membrane;Melanosome NA 4 PE1 -NX_Q16566 51926 473 5.6 5 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q16568 12829 116 8.55 5 Secreted NA 0 PE1 -NX_Q16570 35553 336 6.1 1 Recycling endosome;Early endosome;Membrane NA 7 PE1 -NX_Q16572 56903 532 5.81 10 Membrane Myasthenic syndrome, congenital, 21, presynaptic 12 PE1 -NX_Q16576 47820 425 4.89 X Nucleus NA 0 PE1 -NX_Q16581 53864 482 6.2 12 Cell membrane NA 7 PE1 -NX_Q16584 92688 847 8.4 11 Cytosol;Centrosome;Microtubule organizing center NA 0 PE1 -NX_Q16585 34777 318 8.86 4 Cytosol;Cytoskeleton;Sarcolemma Limb-girdle muscular dystrophy 2E 1 PE1 -NX_Q16586 42875 387 5.5 17 Cytoskeleton;Sarcolemma Limb-girdle muscular dystrophy 2D 1 PE1 -NX_Q16587 72207 644 8.77 22 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q16589 38866 344 5.33 4 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q16594 28974 264 8.77 5 Nucleus NA 0 PE1 -NX_Q16595 23135 210 8.8 9 Cytosol;Mitochondrion Friedreich ataxia 0 PE1 -NX_Q16600 51591 458 7.71 10 Nucleus NA 0 PE1 -NX_Q16602 52929 461 6.27 2 Cell membrane NA 7 PE1 -NX_Q16609 14886 132 5.21 6 Secreted NA 0 PE5 -NX_Q16610 60674 540 6.25 1 Nucleoplasm;Cytosol;Extracellular matrix Lipoid proteinosis 0 PE1 -NX_Q16611 23409 211 5.66 6 Mitochondrion outer membrane NA 1 PE1 -NX_Q16612 7909 68 9.16 5 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q16613 23344 207 7.2 17 Cytosol;Cytoplasm NA 0 PE1 -NX_Q16617 17665 165 5.88 19 Cytoplasmic vesicle;Cytoplasmic granule membrane;Cell membrane NA 4 PE1 -NX_Q16619 21227 201 9.18 16 Secreted NA 0 PE1 -NX_Q16620 91999 822 6.01 9 Axon;Cytosol;Early endosome membrane;Cell membrane;Endosome membrane;Dendrite;Perinuclear region Epileptic encephalopathy, early infantile, 58;Obesity, hyperphagia, and developmental delay 1 PE1 -NX_Q16621 41473 373 4.89 12 Nucleoplasm;Cytoplasm;Cytoskeleton;PML body NA 0 PE1 -NX_Q16623 33023 288 5.14 7 Synaptosome;Synaptic vesicle membrane;Cell membrane;Secreted NA 1 PE1 -NX_Q16625 59144 522 5.77 5 Tight junction;Cell membrane;Cell junction Pseudo-TORCH syndrome 1 4 PE1 -NX_Q16626 19905 185 4.13 6 Cytosol;Nucleus NA 0 PE1 -NX_Q16627 10678 93 8.95 17 Secreted NA 0 PE1 -NX_Q16629 27367 238 11.83 2 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q16630 59210 551 6.66 12 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q16633 27436 256 4.87 11 Nucleus NA 0 PE1 -NX_Q16635 33459 292 9.1 X Cytoplasm;Cell membrane;Endoplasmic reticulum;Membrane Barth syndrome 1 PE1 -NX_Q16637 31849 294 6.13 5 Cajal body;Perikaryon;Cytoplasm;Cytoplasmic granule;Gem;Cell projection;Z line Spinal muscular atrophy 4;Spinal muscular atrophy 1;Spinal muscular atrophy 3;Spinal muscular atrophy 2 0 PE1 -NX_Q16643 71429 649 4.41 5 Cytoplasm;Cell cortex;Cell membrane;Cell junction;Cytoskeleton;Cell projection;Growth cone NA 0 PE1 -NX_Q16644 42987 382 6.87 3 Nucleoplasm;Cytoplasm;Nucleus Macular dystrophy, patterned, 3 0 PE1 -NX_Q16647 57104 500 6.8 20 Endoplasmic reticulum membrane;Endoplasmic reticulum Essential hypertension 1 PE1 -NX_Q16649 51472 462 6.7 9 Nucleus NA 0 PE1 -NX_Q16650 74053 682 6.89 2 Nucleus NA 0 PE1 -NX_Q16651 36431 343 5.52 16 Cytosol;Extracellular space;Cell membrane NA 1 PE1 -NX_Q16653 28193 247 8.87 6 Cell membrane Narcolepsy 7 2 PE1 -NX_Q16654 46469 411 6.19 7 Mitochondrion matrix NA 0 PE1 -NX_Q16655 13157 118 8.29 9 Endoplasmic reticulum membrane;Melanosome;trans-Golgi network membrane;Golgi apparatus NA 1 PE1 -NX_Q16656 53541 503 4.94 7 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q16658 54530 493 6.84 7 Stress fiber;Cytosol;Cell membrane;Cell junction;Microvillus;Filopodium;Cytoskeleton;Invadopodium NA 0 PE1 -NX_Q16659 82681 721 4.91 15 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q16661 12069 112 6.02 1 Secreted NA 0 PE1 -NX_Q16663 12248 113 8.49 17 Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 -NX_Q16665 92670 826 5.17 14 Nucleoplasm;Nucleus speckle;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q16666 88256 785 9.31 1 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q16667 23805 212 5.97 14 Cytosol;Cytoplasm;Perinuclear region Hepatocellular carcinoma 0 PE1 -NX_Q16670 55254 478 8.36 6 Nucleolus;Nucleus NA 0 PE1 -NX_Q16671 62750 573 5.53 12 Membrane Persistent Muellerian duct syndrome 2 1 PE1 -NX_Q16674 14509 131 9.04 19 Secreted NA 0 PE1 -NX_Q16676 46140 465 5.03 5 Nucleus NA 0 PE1 -NX_Q16678 60846 543 9.18 2 Endoplasmic reticulum membrane;Microsome membrane;Mitochondrion Anterior segment dysgenesis 6;Glaucoma 1, open angle, A;Glaucoma 3, primary congenital, A 0 PE1 -NX_Q16690 42047 384 8.69 10 Nucleus NA 0 PE1 -NX_Q16695 15508 136 11.13 1 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q16696 56688 494 9.31 19 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_Q16698 36068 335 9.35 8 Cytosol;Mitochondrion 2,4-dienoyl-CoA reductase deficiency 0 PE1 -NX_Q16706 131141 1144 7.24 5 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q16718 13459 116 5.75 7 Mitochondrion inner membrane NA 0 PE1 -NX_Q16719 52352 465 6.56 2 Cytosol;Nucleoplasm Hydroxykynureninuria;Vertebral, cardiac, renal, and limb defects syndrome 2 0 PE1 -NX_Q16720 134197 1220 5.45 X Golgi apparatus;Cell membrane Spinocerebellar ataxia, X-linked 1 10 PE1 -NX_Q16739 44854 394 7.94 9 Cytoplasm;Golgi apparatus membrane;Cell membrane NA 5 PE1 -NX_Q16740 30180 277 8.26 19 Mitochondrion matrix;Mitochondrion Perrault syndrome 3 0 PE1 -NX_Q16760 134525 1214 7.62 2 Cytosol;Cytoplasm;Membrane NA 0 PE1 -NX_Q16762 33429 297 6.77 22 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q16763 23845 222 8.45 19 Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q16769 40877 361 6.12 2 Cytosol;Secreted NA 0 PE1 -NX_Q16772 25302 222 9.21 6 Cytoplasm NA 0 PE1 -NX_Q16773 47875 422 6.02 9 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q16774 21726 197 6.11 1 NA NA 0 PE1 -NX_Q16775 33806 308 8.34 16 Mitochondrion matrix;Cytoplasm NA 0 PE1 -NX_Q16777 13988 129 10.9 1 Nucleus;Chromosome NA 0 PE1 -NX_Q16778 13920 126 10.31 1 Nucleus;Chromosome NA 0 PE1 -NX_Q16787 366649 3333 7.03 18 Basement membrane;Endoplasmic reticulum Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional, Herlitz type 0 PE1 -NX_Q16790 49698 459 4.64 9 Cytosol;Microvillus membrane;Nucleolus;Nucleus;Cell membrane NA 1 PE1 -NX_Q16795 42510 377 9.81 12 Mitochondrion matrix;Nucleoplasm;Mitochondrion Leigh syndrome 0 PE1 -NX_Q16798 67068 604 8.16 11 Mitochondrion matrix NA 0 PE1 -NX_Q16799 83618 776 4.62 14 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 2 PE1 -NX_Q16816 45024 387 6.4 7 NA NA 0 PE1 -NX_Q16819 84419 746 5.43 6 Membrane NA 1 PE1 -NX_Q16820 79571 701 5.45 18 Cell membrane;Secreted NA 1 PE1 -NX_Q16821 125767 1122 4.91 7 Membrane Diabetes mellitus, non-insulin-dependent 1 PE1 -NX_Q16822 70699 640 7.57 14 Mitochondrion Mitochondrial phosphoenolpyruvate carboxykinase deficiency 0 PE1 -NX_Q16825 133281 1174 8 14 Golgi apparatus;Cytosol;Cell membrane;Microtubule organizing center;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q16827 138344 1216 5.68 12 Membrane Nephrotic syndrome 6 1 PE1 -NX_Q16828 42320 381 4.75 12 Cytosol;Nucleoplasm;Cytoplasm Hypogonadotropic hypogonadism 19 with or without anosmia 0 PE1 -NX_Q16829 44957 419 5.73 3 Cytoplasm NA 0 PE1 -NX_Q16831 33934 310 8.17 7 Nucleoplasm NA 0 PE1 -NX_Q16832 96736 855 5.2 1 Cytoskeleton;Cell membrane Spondyloepimetaphyseal dysplasia short limb-hand type 1 PE1 -NX_Q16836 34294 314 8.88 4 Mitochondrion matrix;Mitochondrion 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency;Familial hyperinsulinemic hypoglycemia 4 0 PE1 -NX_Q16842 40173 350 8.59 16 Cytoplasmic vesicle;Golgi stack membrane;Secreted NA 1 PE1 -NX_Q16849 105848 979 6.67 2 Synapse;Perikaryon;Endosome;Cell membrane;Axon;Nucleus;Endoplasmic reticulum;Membrane;Secretory vesicle membrane NA 1 PE1 -NX_Q16850 56806 503 8.72 7 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q16851 56940 508 8.15 2 Mitochondrion;Cytoplasm;Centrosome;Nucleoplasm NA 0 PE1 -NX_Q16853 84622 763 6.05 17 Cytosol;Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q16854 32056 277 8.76 2 Mitochondrion Portal hypertension, non-cirrhotic;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4;Mitochondrial DNA depletion syndrome 3 0 PE1 -NX_Q16864 13370 119 5.29 7 NA NA 0 PE1 -NX_Q16873 16567 150 10.2 5 Endoplasmic reticulum membrane;Nucleus outer membrane NA 4 PE1 -NX_Q16875 59609 520 8.49 10 Nucleoplasm NA 0 PE1 -NX_Q16877 54040 469 6.21 3 Nucleolus NA 0 PE1 -NX_Q16878 22972 200 6.11 5 Nucleoplasm NA 0 PE1 -NX_Q16880 61438 541 9.54 4 Mitochondrion;Membrane NA 1 PE1 -NX_Q16881 70906 649 7.16 12 Cytoplasm;Nucleus NA 0 PE1 -NX_Q16890 22449 204 5.45 6 Cytosol;Cell junction;Cell membrane NA 0 PE1 -NX_Q16891 83678 758 6.08 2 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_Q17R31 30333 274 6.67 1 Nucleoplasm;Focal adhesion;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q17R55 42387 369 6.46 19 Membrane NA 1 PE1 -NX_Q17R60 89387 797 4.79 6 Secreted Macular dystrophy, vitelliform, 4 0 PE1 -NX_Q17R89 89247 818 6.13 17 Recycling endosome;Synapse;Dendritic spine NA 0 PE1 -NX_Q17R98 119165 1081 6.43 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q17RA5 8913 79 7.76 21 NA NA 0 PE5 -NX_Q17RB0 13246 113 5.17 X NA NA 0 PE1 -NX_Q17RB8 86725 773 6.93 8 Cytosol;Centrosome;Cell membrane NA 0 PE1 -NX_Q17RC7 79896 722 5.92 14 NA NA 0 PE1 -NX_Q17RD7 72274 645 5.39 14 Cytosol NA 0 PE1 -NX_Q17RF5 15556 130 10.51 4 Secreted Amelogenesis imperfecta, hypomaturation type, 2A4 0 PE1 -NX_Q17RG1 104938 926 5.84 16 NA NA 0 PE1 -NX_Q17RH7 24139 258 11.48 3 NA NA 0 PE5 -NX_Q17RM4 81643 750 6.58 2 NA NA 0 PE1 -NX_Q17RN3 37329 349 6.89 19 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q17RP2 58656 521 6.34 5 Cytoplasmic vesicle;Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE2 -NX_Q17RQ9 67780 610 9.13 19 Membrane NA 3 PE1 -NX_Q17RR3 52254 467 8.56 10 Secreted NA 0 PE2 -NX_Q17RS7 102884 908 8.04 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q17RW2 175496 1714 8.46 1 Extracellular matrix NA 0 PE1 -NX_Q17RY0 80152 729 6.7 5 Cytoplasmic vesicle;Golgi apparatus;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Axon;Dendrite;Perinuclear region;Dendritic spine;Postsynaptic density;Growth cone NA 0 PE1 -NX_Q17RY6 18673 165 7.43 8 Acrosome;Secreted;Nucleoplasm;Cytoplasm;Cell membrane;Membrane raft NA 0 PE1 -NX_Q18PE1 53097 504 6.43 4 Nucleoplasm;Mitochondrion;Synapse;Cell membrane Myasthenic syndrome, congenital, 10 0 PE1 -NX_Q19AV6 15386 140 6.7 17 Cytosol;Nucleus NA 0 PE1 -NX_Q19T08 21295 205 7.73 5 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Cytoplasm NA 1 PE1 -NX_Q1A5X6 18226 159 9.52 3 NA NA 0 PE2 -NX_Q1A5X7 18091 153 5.71 15 Nucleus NA 0 PE5 -NX_Q1AE95 42940 376 9.25 3 Membrane NA 1 PE2 -NX_Q1ED39 51589 458 9.86 16 Cytosol;Nucleolus NA 0 PE1 -NX_Q1EHB4 67647 618 8.44 11 Apical cell membrane;Endoplasmic reticulum NA 13 PE1 -NX_Q1HG43 37815 343 6.3 15 Membrane NA 5 PE1 -NX_Q1HG44 34787 320 8.51 15 Endoplasmic reticulum membrane Thyroid dyshormonogenesis 5 5 PE1 -NX_Q1KMD3 85105 747 4.85 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q1L5Z9 83654 754 5.65 2 Nucleus NA 0 PE1 -NX_Q1L6U9 14993 139 6.96 9 Cytosol;Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q1MSJ5 145522 1256 6.37 8 Spindle;Microtubule organizing center;Centrosome;Spindle pole Joubert syndrome 21 0 PE1 -NX_Q1MX18 63469 579 5.37 11 Cytoplasm;Cell cortex NA 0 PE1 -NX_Q1RMZ1 46324 405 5.75 7 Cytosol NA 0 PE1 -NX_Q1RN00 22217 199 9.19 3 NA NA 0 PE1 -NX_Q1T7F1 8815 81 6.05 19 Cytoplasm NA 0 PE5 -NX_Q1W209 24186 222 9.39 3 Nucleus NA 0 PE2 -NX_Q1W4C9 11051 94 8.51 5 Nucleus;Cell membrane;Secreted NA 0 PE2 -NX_Q1W6H9 33863 321 9.93 2 Cytoskeleton;Nucleus;Centrosome;Spindle pole NA 0 PE1 -NX_Q1X8D7 83823 754 6.68 16 NA NA 0 PE1 -NX_Q1XH10 98148 908 8.68 10 NA NA 0 PE1 -NX_Q1ZYL8 26510 232 7.18 19 Cytoplasmic vesicle;Nucleoplasm;Secreted NA 0 PE1 -NX_Q1ZZU3 26739 235 10.25 9 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q24JP5 110110 1023 5.43 11 Endoplasmic reticulum membrane;Mitochondrion;Golgi apparatus membrane NA 1 PE1 -NX_Q24JQ0 32647 296 8.97 18 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 10 PE2 -NX_Q27J81 135624 1249 5.26 14 Perinuclear region;Nucleus;Endoplasmic reticulum Charcot-Marie-Tooth disease, dominant, intermediate type, E;Focal segmental glomerulosclerosis 5 0 PE1 -NX_Q29718 40421 362 5.66 6 Membrane NA 1 PE1 -NX_Q29836 40342 362 5.77 6 Membrane NA 1 PE1 -NX_Q29865 40933 366 6.18 6 Membrane NA 1 PE1 -NX_Q29940 40584 362 5.89 6 Membrane NA 1 PE1 -NX_Q29960 40753 366 6.09 6 Cell membrane;Secreted NA 1 PE1 -NX_Q29963 40969 366 5.68 6 Membrane Psoriasis 1 1 PE1 -NX_Q29974 30030 266 7.64 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 -NX_Q29980 42646 383 6.5 6 Cell membrane Rheumatoid arthritis 1 PE1 -NX_Q29983 42915 383 6.49 6 Cytoplasm;Cell membrane Psoriasis 1;Psoriatic arthritis 1 PE1 -NX_Q29RF7 150830 1337 8.15 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q2HXU8 31616 276 5.5 12 Cell membrane NA 1 PE1 -NX_Q2I0M4 34857 334 9.6 9 Cytoskeleton;Nucleolus;Cell membrane NA 1 PE1 -NX_Q2I0M5 26171 234 9.38 20 Secreted Nail disorder, non-syndromic congenital, 4 0 PE1 -NX_Q2KHM9 109407 967 7.6 17 Cytosol;Centriole;Centriolar satellite;Centrosome Orofaciodigital syndrome 15 0 PE1 -NX_Q2KHN1 27412 245 9.07 16 Cytoplasm;Nucleus NA 0 PE1 -NX_Q2KHR2 146896 1363 6.29 15 Nucleus;Nucleus membrane NA 0 PE1 -NX_Q2KHR3 189972 1735 6.61 11 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q2KHT3 117715 1053 5.55 16 Endosome membrane;Cytoplasmic vesicle;Lysosome membrane;Nucleus Diabetes mellitus, insulin-dependent 0 PE1 -NX_Q2KHT4 39248 349 8.25 12 Endoplasmic reticulum membrane NA 4 PE1 -NX_Q2KJY2 223883 2108 8.76 1 Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q2L4Q9 58410 553 5.46 16 Secreted NA 0 PE2 -NX_Q2LD37 555482 5005 6.12 4 Nucleoplasm;Centrosome;Membrane Alkuraya-Kucinskas syndrome 1 PE1 -NX_Q2M1K9 144605 1284 6.43 16 Nucleus Joubert syndrome 19;Nephronophthisis 14 0 PE1 -NX_Q2M1P5 150587 1343 6.37 15 Cilium;Cilium basal body Acrocallosal syndrome;Joubert syndrome 12;Hydrolethalus syndrome 2;Al-Gazali-Bakalinova syndrome;Bardet-Biedl syndrome 0 PE1 -NX_Q2M1V0 27011 245 8.91 22 Nucleoplasm;Nucleus NA 0 PE2 -NX_Q2M1Z3 156985 1444 5.55 3 Lamellipodium;Focal adhesion Adams-Oliver syndrome 1 0 PE1 -NX_Q2M218 76094 657 9.07 X Cytosol;Nucleus NA 0 PE1 -NX_Q2M238 17255 152 9.03 16 NA NA 0 PE5 -NX_Q2M243 75354 656 5.53 1 NA NA 0 PE1 -NX_Q2M296 42173 383 8.93 16 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q2M2D7 24072 210 9.69 17 NA NA 0 PE2 -NX_Q2M2E3 29233 257 6.71 17 Membrane NA 3 PE1 -NX_Q2M2E5 14817 130 9.54 5 Secreted NA 0 PE2 -NX_Q2M2H8 277990 2515 5.02 7 Cytoplasmic vesicle;Cytosol;Membrane NA 1 PE1 -NX_Q2M2I3 51780 478 9.42 19 NA NA 0 PE1 -NX_Q2M2I5 55087 525 4.89 17 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q2M2I8 103885 961 6.16 2 Cytosol;Clathrin-coated pit;Cell membrane NA 0 PE1 -NX_Q2M2W7 11219 97 10.7 17 Cytosol;Cell membrane NA 0 PE1 -NX_Q2M2Z5 75111 673 5.44 20 Centrosome;Cilium basal body Retinitis pigmentosa 69 0 PE1 -NX_Q2M329 62711 555 4.92 4 Centrosome NA 0 PE1 -NX_Q2M385 78587 716 7.77 11 Membrane NA 1 PE1 -NX_Q2M389 136403 1173 7.1 12 Nucleoplasm;Early endosome Mental retardation, autosomal recessive 43 0 PE1 -NX_Q2M3A8 16456 158 6.69 11 NA NA 0 PE5 -NX_Q2M3C6 58444 531 4.63 15 Cytosol;Cell membrane;Membrane NA 3 PE1 -NX_Q2M3C7 186456 1700 5.04 2 Cytoplasm NA 0 PE1 -NX_Q2M3D2 45859 409 7.65 19 NA NA 0 PE1 -NX_Q2M3G0 138641 1257 7.29 7 Cell membrane NA 11 PE1 -NX_Q2M3G4 90786 852 5.81 5 Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 -NX_Q2M3M2 74073 681 6.71 1 Cytosol;Cytoskeleton;Membrane NA 14 PE1 -NX_Q2M3R5 39836 365 8.46 10 Endoplasmic reticulum membrane;Cell membrane NA 10 PE1 -NX_Q2M3T9 54249 481 8.68 7 Membrane NA 2 PE1 -NX_Q2M3V2 57443 549 10.19 5 NA NA 0 PE1 -NX_Q2M3W8 65842 571 9.12 19 Nucleus NA 0 PE1 -NX_Q2M3X9 67199 581 9.32 X Nucleus NA 0 PE1 -NX_Q2M5E4 17671 152 6.6 1 NA NA 0 PE2 -NX_Q2MJR0 42670 410 8.67 19 Nucleoplasm;Cytosol;Cell membrane;Membrane NA 0 PE2 -NX_Q2MKA7 28959 263 9.46 1 Nucleus;Secreted Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal 0 PE1 -NX_Q2MV58 63570 587 5.32 12 Nucleoplasm;Cytoskeleton;Cilium basal body;Secreted Joubert syndrome 13 0 PE1 -NX_Q2NKJ3 134609 1217 8.23 17 Nucleus;Telomere Cerebroretinal microangiopathy with calcifications and cysts 1 0 PE1 -NX_Q2NKQ1 129718 1148 5.43 22 Cytoplasm;Cytoplasmic vesicle membrane;trans-Golgi network NA 0 PE1 -NX_Q2NKX8 141103 1250 5.19 X Kinetochore;Cytosol;Nucleoplasm;Centromere;Centrosome;Chromosome NA 0 PE1 -NX_Q2NKX9 18751 166 8.44 2 Mitochondrion;Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q2NL67 71115 630 8.6 15 Cell membrane NA 0 PE2 -NX_Q2NL68 51075 480 6.63 19 Golgi apparatus NA 0 PE1 -NX_Q2NL82 91810 804 6.98 17 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q2NL98 18348 169 5.44 19 Cytoplasm NA 0 PE1 -NX_Q2PPJ7 210770 1873 5.74 20 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q2PZI1 77319 675 9.13 7 Cytoplasmic vesicle;Membrane NA 11 PE1 -NX_Q2Q1W2 93385 868 7.57 3 Cytoskeleton;P-body;Focal adhesion;Cell membrane NA 0 PE1 -NX_Q2QD12 25023 228 5.21 10 NA NA 0 PE2 -NX_Q2QGD7 89988 858 8.48 3 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 -NX_Q2QL34 22116 196 9.92 16 Cytoplasmic vesicle;Peroxisome membrane NA 4 PE1 -NX_Q2T9J0 59309 566 5.82 10 Cytosol;Nucleoplasm;Centrosome;Peroxisome NA 0 PE1 -NX_Q2T9K0 52201 475 8.12 3 Cytosol;Membrane NA 7 PE1 -NX_Q2T9L4 31928 293 4.91 15 Cytosol;Postsynaptic density;Nucleoplasm NA 0 PE2 -NX_Q2TAA2 27599 248 5.13 2 Nucleoplasm NA 0 PE1 -NX_Q2TAA5 55651 492 8.78 13 Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1P 2 PE1 -NX_Q2TAA8 76773 658 4.99 16 Cytosol;Perinuclear region;Nucleus NA 0 PE1 -NX_Q2TAC2 103167 916 6.13 17 Cytosol;Cytoskeleton;Microtubule organizing center NA 0 PE1 -NX_Q2TAC6 111332 998 8.87 17 Cytoskeleton;Cilium;Cell membrane;Centrosome NA 0 PE1 -NX_Q2TAK8 78636 710 8.83 19 Cytosol;Nucleus NA 0 PE1 -NX_Q2TAL5 50196 461 8.8 17 NA NA 0 PE1 -NX_Q2TAL6 35282 325 5.29 7 Synapse;Basement membrane NA 0 PE1 -NX_Q2TAL8 86436 776 5.59 3 Nucleoplasm Ververi-Brady syndrome 0 PE1 -NX_Q2TAM9 23390 212 11.18 9 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q2TAP0 18335 167 5.77 10 Golgi apparatus membrane NA 0 PE1 -NX_Q2TAY7 57544 513 6.74 9 Cytoplasmic vesicle;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q2TAZ0 212860 1938 5.57 11 Cytosol;Cytoplasmic vesicle;Lipid droplet;Nucleus;Preautophagosomal structure membrane NA 0 PE1 -NX_Q2TB10 75236 664 9.54 7 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q2TB18 77093 679 8.39 3 Endoplasmic reticulum NA 0 PE1 -NX_Q2TB90 102545 917 6.77 10 Mitochondrion NA 0 PE1 -NX_Q2TBA0 69257 621 5.15 3 I band;Cytoplasm;A band Nemaline myopathy 8 0 PE1 -NX_Q2TBC4 37551 344 5.47 6 Spindle;Microtubule organizing center NA 0 PE2 -NX_Q2TBE0 103787 894 8.78 11 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q2TBF2 63817 565 8.99 12 Nucleoplasm;Membrane NA 1 PE1 -NX_Q2TV78 79694 715 8.16 1 Secreted NA 0 PE1 -NX_Q2UY09 116657 1125 6.1 7 Cytosol;Nucleoplasm;Basement membrane NA 0 PE1 -NX_Q2V2M9 158613 1422 5.7 18 Cytoskeleton;Z line NA 0 PE1 -NX_Q2VIQ3 140035 1234 5.88 5 Cytoskeleton;Nucleus matrix NA 0 PE1 -NX_Q2VIR3 51229 472 8.67 12 NA NA 0 PE1 -NX_Q2VPA4 62714 569 6.95 1 Cytoplasm;Secreted;Membrane NA 0 PE1 -NX_Q2VPB7 93949 878 5.61 11 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q2VPJ9 34740 315 9.42 22 Cytosol;Nucleus NA 0 PE2 -NX_Q2VPK5 56107 515 5.94 16 Cytoplasm NA 0 PE1 -NX_Q2VWA4 104235 1001 6.02 18 Cytoplasm;Nucleus NA 0 PE1 -NX_Q2VWP7 127076 1150 7.37 15 Cytoplasmic vesicle;Cytosol;Cell membrane;Membrane NA 1 PE1 -NX_Q2VY69 69019 593 8.77 19 Nucleus NA 0 PE1 -NX_Q2VYF4 55921 491 9.31 8 Cytosol;Nucleus;Mitochondrion inner membrane NA 1 PE1 -NX_Q2WEN9 45873 425 5.94 19 Secreted Deafness, autosomal dominant, 4B 0 PE1 -NX_Q2WGJ6 65541 581 8.19 8 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q2WGJ8 27046 235 9.88 8 Membrane NA 2 PE1 -NX_Q2WGJ9 209308 1857 5.98 8 Membrane NA 1 PE1 -NX_Q2WGN9 62367 574 7.35 22 NA NA 0 PE2 -NX_Q2Y0W8 122938 1093 6.22 12 Cytoskeleton;Membrane NA 11 PE1 -NX_Q2YD98 80591 709 5.93 4 Nucleoplasm;Chromosome UV-sensitive syndrome 3 0 PE1 -NX_Q30134 30004 266 6.66 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 -NX_Q30154 30056 266 6.45 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 -NX_Q30167 30002 266 7.66 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 -NX_Q30201 40108 348 6.12 6 Mitochondrion;Nucleus membrane;Cell membrane Microvascular complications of diabetes 7;Hemochromatosis 1;Variegate porphyria 1 PE1 -NX_Q309B1 40306 348 5.86 17 Cytoplasm NA 0 PE1 -NX_Q30KP8 8755 78 9.18 8 Secreted NA 0 PE3 -NX_Q30KP9 8754 77 9.54 8 Secreted NA 0 PE2 -NX_Q30KQ1 7213 61 9.06 6 Secreted NA 0 PE2 -NX_Q30KQ4 11544 102 8.71 20 Secreted NA 0 PE3 -NX_Q30KQ5 10071 88 8.77 20 Secreted NA 0 PE3 -NX_Q30KQ6 8318 69 7.5 6 Secreted NA 0 PE1 -NX_Q30KQ7 9640 82 9.1 6 Secreted NA 0 PE2 -NX_Q30KQ8 12991 113 8.82 6 Secreted NA 0 PE2 -NX_Q30KQ9 8001 67 9.06 6 Secreted NA 0 PE2 -NX_Q30KR1 9886 87 8.91 8 Secreted NA 0 PE5 -NX_Q31610 40400 362 5.67 6 Membrane NA 1 PE1 -NX_Q31612 40435 363 5.84 6 Membrane NA 1 PE1 -NX_Q32M45 111462 955 8.45 12 Cell membrane NA 8 PE2 -NX_Q32M78 73956 642 8.6 19 Nucleus NA 0 PE1 -NX_Q32M84 58481 506 9.29 10 Cytosol;Nucleolus NA 0 PE1 -NX_Q32M88 80655 737 5.11 11 Cytosol NA 0 PE1 -NX_Q32M92 20262 178 9.34 15 NA NA 0 PE2 -NX_Q32MH5 121670 1076 8.12 15 Nucleoplasm NA 0 PE1 -NX_Q32MK0 88393 819 5.76 16 Cytoplasm NA 0 PE1 -NX_Q32MQ0 77361 723 8.45 17 Nucleus Seborrhea-like dermatitis with psoriasiform elements 0 PE1 -NX_Q32MZ4 89253 808 4.59 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q32NB8 62730 556 9.08 17 Mitochondrion;Cytoplasmic vesicle;Cytoskeleton;Cell junction NA 0 PE1 -NX_Q32NC0 24827 220 10.27 18 Nucleolus;Cell membrane NA 0 PE1 -NX_Q32P28 83394 736 5.05 1 Cytoplasmic vesicle;Nucleolus;Endoplasmic reticulum;Extracellular matrix Osteogenesis imperfecta 8 0 PE1 -NX_Q32P41 58246 509 8.78 14 Mitochondrion matrix;Cytoplasm;Nucleolus;Nucleus Combined oxidative phosphorylation deficiency 26 0 PE1 -NX_Q32P44 95197 896 6.69 11 Cytoskeleton NA 0 PE1 -NX_Q32P51 34225 320 9.08 13 Cytoplasm;Nucleus NA 0 PE1 -NX_Q32Q52 21196 190 8.68 12 NA NA 0 PE2 -NX_Q32ZL2 35427 321 6.58 1 Cytosol;Cell membrane NA 6 PE2 -NX_Q330K2 38176 333 9.44 8 Nucleus;Mitochondrion inner membrane;Cytoplasm Mitochondrial complex I deficiency 0 PE1 -NX_Q33E94 83368 735 6.38 12 Nucleus NA 0 PE1 -NX_Q38SD2 225393 2015 6.25 15 Mitochondrion;Cytoplasm;Cytosol NA 0 PE1 -NX_Q3B726 37432 338 6.53 7 Nucleolus;Nucleus NA 0 PE1 -NX_Q3B7I2 10960 92 4.92 7 NA NA 0 PE3 -NX_Q3B7J2 42255 385 6.02 16 Nucleoplasm;Cytosol;Extracellular matrix NA 0 PE1 -NX_Q3B7S5 11722 101 10.62 18 Membrane NA 1 PE4 -NX_Q3B7T1 138528 1238 5.93 10 Nucleoplasm;Cytosol;Nucleus;Centrosome NA 0 PE1 -NX_Q3B7T3 28626 259 7.8 16 Nucleoplasm;Centrosome;Membrane Spinocerebellar ataxia 31 1 PE1 -NX_Q3B820 76752 660 8.21 2 Cilium;Cilium basal body Retinitis pigmentosa 28 0 PE1 -NX_Q3B8N2 39660 356 9.6 17 NA NA 0 PE1 -NX_Q3B8N5 65586 592 9.28 14 Nucleus NA 0 PE2 -NX_Q3BBV0 139258 1214 4.74 1 Cytoplasm NA 0 PE2 -NX_Q3BBV2 99215 869 4.6 1 Cytoplasm NA 0 PE5 -NX_Q3C1V0 34465 323 6.27 11 Membrane NA 4 PE2 -NX_Q3C1V1 20547 193 9.42 11 Cytoplasmic vesicle NA 0 PE1 -NX_Q3C1V8 25933 233 6.96 11 Nucleus NA 0 PE2 -NX_Q3C1V9 84939 767 7.76 11 NA NA 0 PE5 -NX_Q3I5F7 22991 207 8.81 14 Cytoplasm NA 0 PE1 -NX_Q3KNS1 86872 767 5.84 10 Membrane NA 8 PE1 -NX_Q3KNS6 50142 432 8.21 19 Nucleus NA 0 PE1 -NX_Q3KNT7 17679 163 5.47 7 NA NA 0 PE5 -NX_Q3KNT9 19597 176 8.98 17 Membrane NA 1 PE2 -NX_Q3KNV8 28115 242 8.54 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q3KNW1 32474 292 9.45 16 Nucleoplasm;Nucleus NA 0 PE2 -NX_Q3KNW5 41259 377 8.15 4 Membrane NA 9 PE1 -NX_Q3KP22 20078 176 10.11 11 Nucleus inner membrane;Telomere NA 1 PE1 -NX_Q3KP31 66872 576 9.39 19 Nucleus NA 0 PE1 -NX_Q3KP44 68414 614 6.72 5 NA NA 0 PE1 -NX_Q3KP66 72914 663 9.42 1 Cytoplasm;Nucleus NA 0 PE1 -NX_Q3KPI0 32373 293 5.83 19 Membrane NA 1 PE2 -NX_Q3KQU3 92820 841 10.12 1 Cytosol;Spindle;Cytoskeleton NA 0 PE1 -NX_Q3KQV3 71577 632 8.36 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q3KQV9 57030 507 5.94 9 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q3KQZ1 32438 300 9.21 17 Mitochondrion;Cytoplasmic vesicle;Mitochondrion inner membrane NA 6 PE1 -NX_Q3KR16 88960 790 6.63 12 Cleavage furrow;Microvillus;Cell junction;Centrosome;Spindle;Spindle pole NA 0 PE1 -NX_Q3KR37 85400 738 5.84 11 Endoplasmic reticulum membrane;Cytoskeleton;Nucleolus;Nucleus;Cell membrane NA 1 PE1 -NX_Q3KRA6 14609 126 6.42 2 Endoplasmic reticulum NA 0 PE1 -NX_Q3KRA9 26483 238 8.9 19 Nucleoplasm;Cytoplasm;Focal adhesion;Nucleus NA 0 PE1 -NX_Q3KRB8 30251 267 9.27 15 Cytoplasmic vesicle NA 0 PE2 -NX_Q3L8U1 326022 2897 6.56 16 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q3LFD5 41394 358 8.36 22 NA NA 0 PE2 -NX_Q3LHN0 11738 102 9.01 21 Cytosol;Cell membrane;Nucleus membrane NA 0 PE3 -NX_Q3LHN1 6456 58 7.51 21 NA NA 0 PE3 -NX_Q3LHN2 5737 52 8.48 21 NA NA 0 PE3 -NX_Q3LI54 6918 63 8.91 21 NA NA 0 PE3 -NX_Q3LI58 7937 79 8.15 21 NA NA 0 PE2 -NX_Q3LI59 8564 83 8.4 21 NA NA 0 PE3 -NX_Q3LI60 4909 44 7.61 21 NA NA 0 PE3 -NX_Q3LI61 6961 65 8.63 21 NA NA 0 PE3 -NX_Q3LI62 4623 44 9.06 21 NA NA 0 PE3 -NX_Q3LI63 6202 56 8.24 21 NA NA 0 PE3 -NX_Q3LI64 7279 71 8.36 21 NA NA 0 PE1 -NX_Q3LI66 6654 62 6.65 21 NA NA 0 PE1 -NX_Q3LI67 10409 103 7.35 21 NA NA 0 PE3 -NX_Q3LI68 5218 45 8.39 21 NA NA 0 PE3 -NX_Q3LI70 6267 58 8.97 21 NA NA 0 PE3 -NX_Q3LI72 7624 72 8.32 21 NA NA 0 PE1 -NX_Q3LI73 9106 84 8.93 21 NA NA 0 PE3 -NX_Q3LI76 14979 137 8.15 21 NA NA 0 PE1 -NX_Q3LI77 17755 160 9.08 21 NA NA 0 PE1 -NX_Q3LI81 22345 207 5.45 21 NA NA 0 PE2 -NX_Q3LI83 27719 254 8.71 21 NA NA 0 PE1 -NX_Q3LIE5 39529 342 5.31 17 NA NA 0 PE1 -NX_Q3LXA3 58947 575 7.12 11 Cytosol;Nucleus NA 0 PE1 -NX_Q3MHD2 21701 195 7.62 17 Cytosol;Cytoplasm NA 0 PE1 -NX_Q3MII6 76327 688 5.75 X Cytoplasm;Autophagosome NA 0 PE1 -NX_Q3MIN7 78079 710 7.6 19 Cytosol;Nucleus NA 0 PE1 -NX_Q3MIP1 58446 535 9.58 16 Centrosome;Membrane NA 1 PE1 -NX_Q3MIR4 38941 351 8.06 14 Cell membrane NA 2 PE1 -NX_Q3MIS6 72138 628 9.37 19 Nucleus NA 0 PE1 -NX_Q3MIT2 60244 529 6.1 2 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q3MIV0 5275 48 6.48 21 NA NA 0 PE3 -NX_Q3MIW9 56347 517 9.01 6 Cytoplasm;Cell membrane NA 1 PE1 -NX_Q3MIX3 65828 580 9.05 8 Cytosol;Cell membrane;Membrane NA 1 PE1 -NX_Q3MJ13 123425 1102 6.22 15 Cytoplasmic vesicle Amelogenesis imperfecta, hypomaturation type, 2A3 0 PE1 -NX_Q3MJ16 99190 868 5.46 15 Cytosol;Lysosome membrane NA 0 PE1 -NX_Q3MJ40 82951 725 4.93 17 NA NA 0 PE2 -NX_Q3MJ62 44955 389 5.91 6 Nucleus NA 0 PE1 -NX_Q3MUY2 8058 71 6.69 4 Endoplasmic reticulum membrane Hyperphosphatasia with mental retardation syndrome 6 2 PE1 -NX_Q3SX64 30781 289 10 19 NA NA 0 PE1 -NX_Q3SXM0 44264 396 8.65 4 NA NA 0 PE1 -NX_Q3SXM5 37002 330 8.93 16 Mitochondrion NA 0 PE1 -NX_Q3SXP7 22573 199 8.95 22 Cytosol;Cytoplasmic vesicle;Membrane NA 1 PE2 -NX_Q3SXR2 16908 165 8.66 3 NA NA 0 PE2 -NX_Q3SXY7 74754 679 5.46 4 Endoplasmic reticulum membrane;Nucleoplasm;Perikaryon;Cytosol;Dendrite;Mitochondrion Night blindness, congenital stationary, 1F 1 PE1 -NX_Q3SXY8 48643 428 6.2 3 Cytosol;Cilium membrane;Cytoskeleton;Cilium Joubert syndrome 8 0 PE1 -NX_Q3SXZ3 55359 478 9.53 4 Nucleus NA 0 PE2 -NX_Q3SXZ7 51472 439 8.96 20 Nucleoplasm;Cytoskeleton;Cilium basal body NA 0 PE2 -NX_Q3SY00 62381 556 10.08 11 NA NA 0 PE1 -NX_Q3SY05 14562 128 9.74 1 NA NA 0 PE5 -NX_Q3SY17 33721 297 9.69 18 Mitochondrion inner membrane NA 6 PE2 -NX_Q3SY46 19236 172 8.78 21 NA NA 0 PE1 -NX_Q3SY52 54786 487 9.1 19 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q3SY56 39840 376 6.81 17 Nucleoplasm;Spindle;Nucleus;Centrosome NA 0 PE1 -NX_Q3SY69 101746 923 6.13 12 Mitochondrion NA 0 PE1 -NX_Q3SY77 59547 523 8.51 5 Cytosol;Nucleus;Membrane NA 1 PE1 -NX_Q3SY84 57292 523 6.27 12 Cytoskeleton Hypotrichosis 13 0 PE1 -NX_Q3SY89 59760 546 9.83 18 Nucleus NA 0 PE2 -NX_Q3SYA9 45448 428 9.17 22 NA NA 0 PE5 -NX_Q3SYB3 45787 417 9.76 9 Nucleus NA 0 PE1 -NX_Q3SYC2 38196 334 9.47 11 Endoplasmic reticulum membrane;Perinuclear region NA 3 PE1 -NX_Q3SYF9 6644 63 8.49 21 NA NA 0 PE1 -NX_Q3SYG4 99280 887 5.35 7 Cilium membrane;Centriolar satellite;Centrosome;Cytoplasm Bardet-Biedl syndrome 9 0 PE1 -NX_Q3T8J9 248620 2241 4.94 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q3T906 143622 1256 6.74 12 Golgi apparatus membrane;Golgi apparatus Mucolipidosis type III complementation group A;Mucolipidosis type II 2 PE1 -NX_Q3V5L5 89535 792 8.68 17 Nucleoplasm;Cytoskeleton;Golgi apparatus membrane;Spindle NA 1 PE1 -NX_Q3V6T2 216042 1871 5.9 2 Cytoplasmic vesicle;Cytosol;Cell membrane;Centriole;Membrane;Lamellipodium;Cilium basal body PEHO-like syndrome 0 PE1 -NX_Q3Y452 10472 100 6.81 6 Cytoplasm NA 0 PE1 -NX_Q3YBM2 29056 270 8.81 7 Nucleoplasm;Golgi apparatus;Cell membrane;Nucleus membrane NA 4 PE1 -NX_Q3YBR2 44946 411 8.73 11 Nucleus NA 0 PE1 -NX_Q3YEC7 79549 729 5.11 9 Cytosol;Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q3ZAQ7 11354 101 6.56 X Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane Myopathy, X-linked, with excessive autophagy 2 PE1 -NX_Q3ZCM7 49776 444 4.79 10 Cytoskeleton;Spindle Oocyte maturation defect 2 0 PE1 -NX_Q3ZCN5 262091 2332 5.01 12 Cytosol;Secreted Deafness, autosomal recessive, 84B 0 PE1 -NX_Q3ZCQ2 21682 193 4.88 5 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q3ZCQ3 16967 159 8.88 15 Cytoskeleton;Membrane NA 1 PE1 -NX_Q3ZCQ8 39646 353 8.55 19 Nucleoplasm;Nucleus speckle;Mitochondrion;Mitochondrion inner membrane 3-methylglutaconic aciduria 9 1 PE1 -NX_Q3ZCT1 47222 412 9.28 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q3ZCT8 71096 623 5.65 3 NA NA 0 PE1 -NX_Q3ZCU0 29382 254 9.76 11 Nucleoplasm;Centrosome;Endoplasmic reticulum NA 0 PE2 -NX_Q3ZCV2 47583 418 9.85 1 NA NA 0 PE1 -NX_Q3ZCW2 18986 172 5.12 2 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q3ZCX4 74369 644 8.58 19 Nucleus NA 0 PE1 -NX_Q3ZLR7 89431 823 9 X NA NA 0 PE2 -NX_Q3ZM63 6991 59 10.43 X NA NA 0 PE1 -NX_Q400G9 54924 498 5.64 7 NA NA 0 PE1 -NX_Q401N2 45816 412 8.45 17 Cell membrane NA 4 PE1 -NX_Q460N3 74576 678 9.02 3 Mitochondrion;Nucleus NA 0 PE1 -NX_Q460N5 202800 1801 6.81 3 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q494R0 13218 122 9.41 16 NA NA 0 PE5 -NX_Q494R4 23858 210 9.34 11 Cytosol NA 0 PE1 -NX_Q494U1 66409 611 9.06 1 Mitochondrion;Nucleus speckle;Cytoskeleton;Mitochondrion membrane;Cell membrane NA 0 PE1 -NX_Q494V2 71117 611 6.65 3 Cilium axoneme NA 0 PE1 -NX_Q494W8 46218 412 6.11 15 Membrane NA 5 PE2 -NX_Q494X3 65425 552 9.32 19 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_Q495A1 26319 244 5.5 3 Cell membrane NA 1 PE1 -NX_Q495B1 57550 522 6.22 15 Nucleoplasm NA 0 PE1 -NX_Q495C1 33365 297 9.04 4 Nucleus;Chromosome NA 0 PE2 -NX_Q495D7 15996 138 9.11 12 NA NA 0 PE2 -NX_Q495M3 53216 483 8.4 5 Cytoplasm;Cell membrane Hyperglycinuria;Iminoglycinuria 11 PE1 -NX_Q495M9 51489 461 6.48 17 Cytosol;Cytoskeleton;Cell membrane Usher syndrome 1G 0 PE1 -NX_Q495N2 51735 470 5.91 5 Membrane NA 11 PE2 -NX_Q495T6 89367 779 5.64 1 Membrane;Secreted NA 1 PE1 -NX_Q495W5 55816 492 5.59 10 Golgi stack membrane;Golgi apparatus;Nucleus membrane NA 1 PE1 -NX_Q495X7 55114 471 8.68 4 NA NA 0 PE2 -NX_Q495Y7 25253 208 8.71 7 NA NA 0 PE5 -NX_Q495Y8 48300 402 9.78 7 NA NA 0 PE1 -NX_Q495Z4 20099 193 11.93 17 NA NA 0 PE5 -NX_Q496A3 33705 300 7.08 6 Nucleoplasm NA 0 PE1 -NX_Q496F6 22918 205 8.22 17 Cell membrane NA 1 PE1 -NX_Q496H8 17786 165 8.35 16 Cell membrane NA 0 PE1 -NX_Q496J9 82342 727 4.92 5 Nucleoplasm;Cytoplasmic vesicle;Synaptic vesicle membrane NA 12 PE1 -NX_Q496M5 36329 336 5.99 19 Cytoplasm;Nucleolus NA 0 PE1 -NX_Q496Y0 84490 759 7 X Nucleus;Cell membrane NA 0 PE1 -NX_Q499Y3 20452 187 7.62 10 NA NA 0 PE2 -NX_Q499Z3 45603 407 5.61 1 Cytosol NA 0 PE1 -NX_Q499Z4 50224 452 10.01 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q49A17 69788 601 7.11 4 Golgi apparatus membrane NA 1 PE2 -NX_Q49A26 60547 553 9.26 16 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q49A33 23384 203 9.13 4 Nucleus NA 0 PE5 -NX_Q49A88 106302 953 8.65 3 Centriolar satellite;Centrosome NA 0 PE1 -NX_Q49A92 59434 538 5.76 8 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q49AA0 61181 526 8.78 1 Nucleus NA 0 PE1 -NX_Q49AG3 78911 693 8.57 11 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q49AH0 20964 187 7.5 10 Secreted NA 0 PE1 -NX_Q49AJ0 155770 1406 5.53 8 Nucleoplasm;Nucleus membrane NA 0 PE1 -NX_Q49AM1 44414 385 9.15 12 Mitochondrion;Mitochondrion nucleoid NA 0 PE1 -NX_Q49AM3 57105 519 8.52 2 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q49AN0 66947 593 8.66 11 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q49AR2 49967 442 4.65 5 Nucleus membrane NA 0 PE1 -NX_Q49AS3 12596 106 10.02 9 NA NA 0 PE5 -NX_Q49B96 10394 90 8.95 7 Cytosol;Mitochondrion;Mitochondrion intermembrane space NA 0 PE1 -NX_Q49MG5 74234 647 7.59 4 Cytoplasm;Cytoskeleton;Spindle NA 0 PE1 -NX_Q49MI3 62622 558 8.57 2 Nucleolus;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Cytosol;trans-Golgi network Retinitis pigmentosa 26 0 PE1 -NX_Q49SQ1 38232 333 9.57 14 Cell membrane NA 7 PE2 -NX_Q4AC94 260389 2353 6.7 11 Centriole;Cilium basal body;Nucleus;Microtubule organizing center Orofaciodigital syndrome 14 0 PE1 -NX_Q4AC99 65249 568 6.05 11 NA NA 0 PE1 -NX_Q4ADV7 159301 1423 5.95 9 Cytosol;Membrane NA 1 PE1 -NX_Q4AE62 52597 458 6.83 2 Cytosol NA 0 PE1 -NX_Q4FZB7 99187 885 8.98 11 Nucleus;Chromosome Mental retardation, autosomal dominant 51 0 PE1 -NX_Q4G0A6 84372 757 6.47 7 Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_Q4G0F5 39155 336 6.85 11 Cytoplasm;Membrane;Late endosome;Early endosome NA 0 PE1 -NX_Q4G0G2 11005 97 6.8 3 NA NA 0 PE5 -NX_Q4G0G5 10563 96 4.57 19 Secreted NA 0 PE3 -NX_Q4G0I0 15004 132 6.51 16 Membrane NA 1 PE1 -NX_Q4G0J3 66899 582 9.57 4 Cytosol;Nucleoplasm Alazami syndrome 0 PE1 -NX_Q4G0M1 37279 354 9.88 2 Microtubule organizing center;Endoplasmic reticulum;Secreted NA 0 PE2 -NX_Q4G0N0 11568 100 5.61 9 Golgi stack membrane NA 1 PE1 -NX_Q4G0N4 49433 442 8.46 5 Mitochondrion 2,4-dienoyl-CoA reductase deficiency 0 PE1 -NX_Q4G0N7 8717 80 9.02 6 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q4G0N8 135206 1177 6.72 3 Flagellum membrane NA 16 PE1 -NX_Q4G0P3 575892 5121 5.73 16 Cytosol;Cilium;Cell membrane Ciliary dyskinesia, primary, 5 0 PE1 -NX_Q4G0S4 42632 372 9.31 2 Cytoplasmic vesicle;Membrane NA 0 PE1 -NX_Q4G0S7 29979 254 9.11 5 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q4G0T1 108611 1027 5.76 10 Membrane NA 1 PE1 -NX_Q4G0U5 96891 840 8.79 2 Cytoplasm;Cilium axoneme NA 0 PE1 -NX_Q4G0W2 18324 176 8.61 2 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q4G0X4 29643 260 6.09 11 Cytosol NA 0 PE1 -NX_Q4G0X9 130113 1142 5.21 17 Cytoplasm;Cytoskeleton;Cilium Ciliary dyskinesia, primary, 15 0 PE1 -NX_Q4G0Z9 76219 681 6.79 8 Cytoskeleton NA 0 PE1 -NX_Q4G112 65278 596 6.78 17 Nucleus NA 0 PE1 -NX_Q4G148 50567 440 8.92 12 Membrane NA 1 PE1 -NX_Q4G163 78402 708 8.4 8 NA NA 0 PE1 -NX_Q4G176 64130 576 8.64 16 Mitochondrion Combined malonic and methylmalonic aciduria 0 PE1 -NX_Q4G1C9 40179 344 4.88 12 Membrane NA 1 PE1 -NX_Q4J6C6 83927 727 5.96 2 Cytosol;Cytoplasm Hypotonia-cystinuria syndrome;Myasthenic syndrome, congenital, 22 0 PE1 -NX_Q4JDL3 48423 420 5.54 10 Cytoplasm;Nucleus;Centrosome;Microtubule organizing center NA 0 PE1 -NX_Q4KMG0 139147 1287 6.04 11 Cell membrane Holoprosencephaly 11 1 PE1 -NX_Q4KMG9 20002 183 5.39 12 Focal adhesion;Membrane NA 1 PE2 -NX_Q4KMP7 87199 808 9.27 16 Cytoplasm NA 0 PE1 -NX_Q4KMQ1 75556 711 6.82 9 Stereocilium;Cell membrane Deafness, autosomal recessive, 79 0 PE1 -NX_Q4KMQ2 106165 910 7.92 12 Cytosol;Cell membrane Scott syndrome 8 PE1 -NX_Q4KMX7 18795 169 5.78 17 NA NA 0 PE2 -NX_Q4KMZ1 53032 466 8.22 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q4KMZ8 23552 207 5.21 1 Cell membrane NA 3 PE2 -NX_Q4KWH8 189223 1693 7.87 3 Cytoplasmic vesicle;Cytoplasm;Membrane NA 0 PE1 -NX_Q4L180 130382 1135 6.17 3 Cytoplasm;Nucleus;Cell membrane;Membrane NA 0 PE1 -NX_Q4L235 122597 1098 6.9 4 NA NA 0 PE1 -NX_Q4LDE5 390170 3571 5.32 9 Cytoplasm;Membrane;Secreted NA 0 PE1 -NX_Q4LDG9 21533 190 5.87 14 Nucleus;Cilium axoneme;Microtubule organizing center Ciliary dyskinesia, primary, 16 0 PE1 -NX_Q4LDR2 8933 81 4.56 5 Membrane NA 1 PE2 -NX_Q4LE39 147809 1312 5.04 1 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q4LEZ3 17575 155 5.81 8 Lipid droplet NA 0 PE1 -NX_Q4QY38 7552 66 6.52 8 Secreted NA 0 PE2 -NX_Q4U2R6 15095 128 11.27 12 Mitochondrion NA 0 PE1 -NX_Q4U2R8 61816 563 9.05 11 Cell membrane NA 12 PE1 -NX_Q4UJ75 94149 823 8.11 9 NA NA 0 PE4 -NX_Q4V321 12957 117 4.17 X NA NA 0 PE2 -NX_Q4V326 12217 110 4.3 X NA NA 0 PE2 -NX_Q4V328 96006 841 5.08 X Cytoplasmic vesicle;Synapse;Cytosol;Early endosome membrane;Axon;Dendrite;Recycling endosome membrane NA 0 PE1 -NX_Q4V339 43964 395 4.76 9 NA NA 0 PE3 -NX_Q4V348 94331 819 8.9 9 Nucleus NA 0 PE2 -NX_Q4V9L6 29203 283 4.5 12 Endoplasmic reticulum membrane;Cytoplasm;Cell membrane NA 1 PE1 -NX_Q4VC05 22810 210 5.01 12 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q4VC12 51289 460 6.49 10 Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q4VC31 16620 144 7.67 3 Mitochondrion;Nucleolus NA 0 PE1 -NX_Q4VC39 11405 106 8.55 15 Membrane NA 2 PE5 -NX_Q4VC44 80108 716 8.68 16 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q4VCS5 118085 1084 7.27 X Nucleus;Cell junction;Tight junction NA 0 PE1 -NX_Q4VNC0 137327 1218 8.19 3 Membrane NA 10 PE2 -NX_Q4VNC1 133987 1196 6.27 3 Nucleoplasm;Membrane NA 11 PE1 -NX_Q4VX62 22766 202 8.57 6 NA NA 0 PE4 -NX_Q4VX76 68560 610 9.41 6 Cytoplasmic vesicle;Nucleolus;Endomembrane system NA 0 PE1 -NX_Q4VXA5 27160 237 8.58 6 Mitochondrion;Cytosol;Membrane NA 2 PE2 -NX_Q4VXF1 18188 159 9.41 9 Membrane NA 1 PE5 -NX_Q4VXU2 68392 614 9.06 20 Cytosol;Nucleus NA 0 PE1 -NX_Q4W4Y0 36306 310 6.18 14 Cytosol NA 0 PE2 -NX_Q4W5G0 59623 525 9.12 4 Nucleus NA 0 PE1 -NX_Q4W5N1 17479 156 9.43 4 NA NA 0 PE2 -NX_Q4W5P6 14221 130 10.29 4 Secreted NA 0 PE2 -NX_Q4ZG55 216467 1949 6.49 2 Mitochondrion;Cytosol;Membrane NA 1 PE1 -NX_Q4ZHG4 205558 1894 9.35 6 Nucleus speckle;Secreted NA 0 PE1 -NX_Q4ZIN3 67889 620 5.14 19 Endoplasmic reticulum membrane;Nucleus speckle;Endoplasmic reticulum NA 4 PE1 -NX_Q4ZJI4 56054 515 8.27 4 Flagellum membrane NA 13 PE1 -NX_Q502W6 145748 1294 7.01 2 Cytoplasm;Nucleus Spinocerebellar ataxia, autosomal recessive, 22 0 PE1 -NX_Q502W7 65315 563 8.81 12 Nucleolus;Nucleus;Centrosome NA 0 PE1 -NX_Q502X0 8939 79 5.4 2 Nucleoplasm;Nucleus;Acrosome NA 0 PE1 -NX_Q504Q3 135368 1202 5.64 12 Cytoplasm;P-body;Nucleus NA 0 PE1 -NX_Q504T8 49213 468 9.67 19 Nucleoplasm;Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q504U0 11899 113 4.24 4 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q504Y0 76666 691 5.85 10 Membrane NA 8 PE1 -NX_Q504Y2 54132 493 8.76 2 Golgi apparatus;Secreted NA 0 PE1 -NX_Q504Y3 41376 356 5.56 3 Nucleus speckle NA 0 PE1 -NX_Q50LG9 55257 513 9.24 8 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q52LA3 13001 116 4.89 14 Nucleus speckle NA 0 PE1 -NX_Q52LC2 25310 224 9.6 5 Cytosol;Nucleolus;Membrane NA 1 PE2 -NX_Q52LD8 55922 501 5.56 2 Cell membrane NA 0 PE1 -NX_Q52LG2 18727 175 8.72 21 NA NA 0 PE1 -NX_Q52LJ0 37191 330 5.96 15 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q52LR7 91095 807 8.95 2 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q52LW3 142064 1261 6.32 1 Cytosol;Nucleus;Centrosome;Cell membrane NA 0 PE1 -NX_Q52M58 13861 125 9.23 14 NA NA 0 PE2 -NX_Q52M75 10857 96 9.96 5 NA NA 0 PE4 -NX_Q52M93 88066 769 9.26 19 Nucleus NA 0 PE1 -NX_Q52MB2 20484 194 4.04 12 Cytosol;Cytoplasm;Mitochondrion NA 0 PE1 -NX_Q52WX2 46252 424 9.28 16 Cytoplasm NA 0 PE1 -NX_Q537H7 11356 98 10.08 1 NA NA 0 PE1 -NX_Q538Z0 6437 58 9.7 7 Lipid droplet NA 0 PE2 -NX_Q53EL6 51735 469 5.07 10 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q53EL9 107425 994 5.16 17 Cytoskeleton;Cell membrane NA 1 PE1 -NX_Q53EP0 132888 1204 5.64 3 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_Q53EQ6 69222 642 8.68 8 Nucleus NA 0 PE1 -NX_Q53ET0 73302 693 6.6 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q53EU6 48705 434 9.05 4 Endoplasmic reticulum membrane;Cytosol;Cell membrane NA 3 PE1 -NX_Q53EV4 39761 343 4.57 12 Nucleolus NA 0 PE1 -NX_Q53EZ4 54178 464 6.55 10 Cleavage furrow;Cytoplasm;Midbody ring;Cell membrane;Centrosome;Centriole;Microtubule organizing center;Midbody Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 0 PE1 -NX_Q53F19 70593 620 5.55 17 Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q53F39 45141 396 6.71 18 Nucleoplasm;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus NA 2 PE1 -NX_Q53FA7 35536 332 6.66 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q53FD0 51658 456 9.58 14 Mitochondrion;Cytoplasm;Nucleus speckle NA 0 PE1 -NX_Q53FE4 39644 359 9.4 4 NA NA 0 PE1 -NX_Q53FP2 18440 167 10.09 X Cytosol;Cytoplasmic vesicle;Focal adhesion;Peroxisome membrane NA 4 PE1 -NX_Q53FT3 21628 197 5.27 11 Cytosol;Cytoplasm;Nucleus Leukodystrophy, hypomyelinating, 13 0 PE1 -NX_Q53FV1 17363 153 9.64 12 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q53FZ2 66153 586 9.16 16 Mitochondrion matrix NA 0 PE1 -NX_Q53G44 51322 452 6.33 1 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q53G59 63277 568 5.26 1 Cytoplasmic vesicle;COPII-coated vesicle;Microtubule organizing center NA 0 PE1 -NX_Q53GA4 17092 152 9.3 11 Cytoplasm;Nucleolus;Membrane NA 0 PE1 -NX_Q53GD3 79254 710 8.91 6 Apical cell membrane;Membrane Deafness, autosomal dominant, 72 10 PE1 -NX_Q53GG5 39232 364 6.42 4 Z line NA 0 PE1 -NX_Q53GI3 64256 561 8.14 7 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q53GL0 46237 409 8.93 1 Mitochondrion;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q53GL7 109998 1025 4.9 8 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q53GQ0 34324 312 9.34 11 Endoplasmic reticulum membrane NA 3 PE1 -NX_Q53GS7 79836 698 7.06 9 Cytoplasm;Nuclear pore complex;Nucleolus;Nucleus;Nucleus membrane Lethal arthrogryposis with anterior horn cell disease;Lethal congenital contracture syndrome 1 0 PE1 -NX_Q53GS9 65381 565 9.02 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q53GT1 71667 634 5.28 22 Golgi apparatus;Lysosome;Cytosol;Centrosome;Nucleus;Cytoskeleton;Spindle NA 0 PE1 -NX_Q53H12 47137 422 8.3 7 Cytoplasmic vesicle;Mitochondrion;Mitochondrion inner membrane;Mitochondrion intermembrane space Mitochondrial DNA depletion syndrome 10;Cataract 38 0 PE1 -NX_Q53H47 78034 684 6.75 3 Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_Q53H54 50236 448 8.21 8 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q53H64 13397 114 7.65 17 NA NA 0 PE4 -NX_Q53H76 49715 456 7.11 3 Nucleus speckle;Secreted NA 0 PE1 -NX_Q53H80 22496 203 8.96 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q53H82 32806 288 6.32 8 Mitochondrion matrix;Cytosol;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q53H96 28663 274 7.66 8 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q53HC0 36961 331 8.96 12 Centriole;Nucleoplasm;Centrosome NA 0 PE1 -NX_Q53HC5 68139 615 6.04 19 NA NA 0 PE1 -NX_Q53HC9 43603 387 4.87 2 Cytoskeleton;Nucleolus;Nucleus;trans-Golgi network NA 0 PE1 -NX_Q53HI1 30373 259 9.5 2 Golgi apparatus membrane;Nucleus inner membrane;Endoplasmic reticulum NA 5 PE1 -NX_Q53HL2 31323 280 9.88 1 Nucleolus;Cytoplasm;Nucleus;Cytoskeleton;Centromere;Spindle NA 0 PE1 -NX_Q53HV7 29862 270 6.18 12 Cytoplasmic vesicle;Nucleus;Centrosome NA 0 PE1 -NX_Q53LP3 55672 525 6.55 2 Cytosol NA 0 PE1 -NX_Q53QV2 12217 105 4.33 2 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q53QW1 41589 395 4.97 2 Cytoplasm NA 0 PE1 -NX_Q53QZ3 54544 475 9.42 2 Cytoplasmic vesicle;Cytoplasm;Membrane;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q53R12 25075 229 6.4 2 Endoplasmic reticulum membrane;Focal adhesion;Cell membrane;Membrane Specific language impairment 5 4 PE1 -NX_Q53R41 97411 847 7.8 2 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q53RD9 47376 439 7.88 2 Cell junction;Cell membrane;Extracellular matrix NA 0 PE1 -NX_Q53RE8 19651 183 6.39 2 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q53RT3 36991 343 5.28 2 Membrane NA 1 PE1 -NX_Q53RY4 25627 240 8.12 2 Cytosol;Nucleus;Membrane NA 4 PE1 -NX_Q53S08 28242 254 6.41 2 NA NA 0 PE2 -NX_Q53S33 12114 107 9.66 2 Mitochondrion Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 0 PE1 -NX_Q53S58 33760 311 9.66 2 Mitochondrion inner membrane;Nucleolus;Nucleus NA 3 PE1 -NX_Q53S99 16373 150 6.18 2 Endoplasmic reticulum NA 0 PE2 -NX_Q53SF7 131787 1204 6.22 2 Cell junction NA 0 PE1 -NX_Q53SZ7 44690 412 10.39 2 NA NA 0 PE1 -NX_Q53T59 42780 392 4.89 2 Cytosol;Nucleolus NA 0 PE1 -NX_Q53T94 68832 588 8.27 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q53TN4 31641 286 8.89 2 Cytosol;Golgi apparatus;Membrane NA 6 PE1 -NX_Q53TQ3 98174 878 8.48 2 Nucleus NA 0 PE1 -NX_Q53TS8 71159 623 6.55 2 NA NA 0 PE1 -NX_Q562E7 211697 1941 5.37 17 Autophagosome membrane;Lysosome membrane;Cytosol;Early endosome membrane;Nucleoplasm;Late endosome membrane;Mitochondrion Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2;Hydrocephalus, congenital, 3, with brain anomalies 0 PE1 -NX_Q562F6 144739 1265 8.09 2 Kinetochore;Centromere;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q562R1 42003 376 5.39 5 Cytoskeleton NA 0 PE1 -NX_Q567U6 73198 631 8.24 2 Cytoplasmic vesicle;Cell membrane;Early endosome NA 0 PE1 -NX_Q567V2 23180 206 9.41 19 Cytosol;Mitochondrion inner membrane;Cell membrane;Membrane NA 3 PE1 -NX_Q569G3 19206 176 10.49 5 NA NA 0 PE1 -NX_Q569H4 32812 304 9.09 5 Cytosol;Nucleus;Midbody NA 0 PE1 -NX_Q569K4 50407 471 9.92 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q569K6 83941 752 6.76 22 NA NA 0 PE1 -NX_Q56A73 28660 249 7.13 X Cytosol;Nucleolus NA 0 PE1 -NX_Q56NI9 68307 601 9.46 8 Nucleus;Chromosome;Golgi apparatus SC phocomelia syndrome;Roberts syndrome 0 PE1 -NX_Q56P03 32762 285 5 14 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q56P42 10795 97 5.21 3 Cytoplasm;Nucleus NA 0 PE1 -NX_Q56UN5 150537 1328 6.61 2 Cytosol NA 0 PE1 -NX_Q56UQ5 15757 140 5.81 X NA NA 0 PE2 -NX_Q56VL3 16954 154 9.24 4 Mitochondrion;Endosome NA 0 PE1 -NX_Q587I9 21790 215 9.96 2 Membrane NA 4 PE1 -NX_Q587J7 132578 1177 6.3 19 NA NA 0 PE1 -NX_Q587J8 24306 217 9.47 6 NA Hydatidiform mole, recurrent, 2 0 PE1 -NX_Q58A44 10968 107 10.45 13 Cytoplasm NA 0 PE1 -NX_Q58A45 95613 887 8.8 13 P-body NA 0 PE1 -NX_Q58DX5 88682 795 5.78 3 Nucleoplasm;Membrane NA 1 PE1 -NX_Q58EX2 239396 2172 6.62 17 Nucleoplasm;Synapse;Cell membrane NA 1 PE1 -NX_Q58EX7 130803 1191 5.43 16 Cell junction NA 0 PE1 -NX_Q58F21 107954 947 9.05 1 Nucleus Spermatogenic failure 21 0 PE1 -NX_Q58FF3 45859 399 5.14 15 NA NA 0 PE5 -NX_Q58FF6 58264 505 4.65 15 Cytoplasm NA 0 PE5 -NX_Q58FF7 68325 597 4.71 4 Cytoplasm NA 0 PE5 -NX_Q58FF8 44349 381 4.79 4 Cytoplasm NA 0 PE1 -NX_Q58FG0 38738 334 6.15 3 Cytoplasm NA 0 PE1 -NX_Q58FG1 47712 418 5.07 4 Cytoplasm NA 0 PE5 -NX_Q58G82 21436 188 9.56 4 NA NA 0 PE5 -NX_Q58HT5 37759 328 9.06 X Endoplasmic reticulum membrane NA 2 PE1 -NX_Q58WW2 96292 860 5.14 1 Focal adhesion;Nucleus NA 0 PE1 -NX_Q59EK9 49747 446 5.19 17 Cytoplasmic vesicle NA 0 PE1 -NX_Q59GN2 6323 51 12.32 3 NA NA 0 PE5 -NX_Q59H18 92851 835 6.27 1 Cytoplasm;Nucleus Cardiac conduction disease with or without dilated cardiomyopathy 0 PE1 -NX_Q5BIV9 14522 151 11.36 10 Cell membrane NA 0 PE2 -NX_Q5BJD5 32513 291 9.6 11 Endoplasmic reticulum membrane;Peroxisome NA 6 PE1 -NX_Q5BJE1 102011 867 6.34 18 NA NA 0 PE1 -NX_Q5BJF2 20848 176 9.42 17 Cytosol;Rough endoplasmic reticulum membrane;Cell membrane;Nucleus membrane NA 4 PE1 -NX_Q5BJF6 95401 829 7.53 9 Centriole;Flagellum;Centrosome;Spindle pole;Cilium NA 0 PE1 -NX_Q5BJH2 18822 165 6.27 4 Membrane NA 4 PE1 -NX_Q5BJH7 34435 314 9.21 19 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 5 PE1 -NX_Q5BKT4 55606 473 9.4 12 Endoplasmic reticulum membrane NA 12 PE2 -NX_Q5BKU9 15855 147 8.57 17 Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q5BKX5 37779 351 7.13 19 NA NA 0 PE1 -NX_Q5BKX6 83878 768 5.33 8 Cell membrane;Membrane NA 12 PE1 -NX_Q5BKX8 41899 364 8.29 9 Sarcomere;Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Sarcolemma;Caveola NA 0 PE1 -NX_Q5BKY1 31642 277 8.79 12 Nucleus NA 0 PE1 -NX_Q5BKY6 10947 102 7.82 22 NA NA 0 PE1 -NX_Q5BKY9 28385 247 10.02 7 Nucleus NA 0 PE1 -NX_Q5BKZ1 65654 582 5.08 1 Nucleoplasm;Cytoplasmic vesicle;Nucleus matrix;Golgi apparatus NA 0 PE1 -NX_Q5BLP8 10170 95 8.69 4 Cytosol;Secreted NA 0 PE1 -NX_Q5BN46 15260 136 9.06 9 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q5BVD1 24295 217 4.02 3 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q5C9Z4 96257 860 8.28 7 Nucleolus NA 0 PE1 -NX_Q5CZ79 93909 823 8.55 2 NA NA 0 PE2 -NX_Q5CZA5 71143 627 7.83 19 Nucleus NA 0 PE1 -NX_Q5CZC0 780607 6907 6.27 2 Mitochondrion;Cytoskeleton NA 0 PE1 -NX_Q5D0E6 59363 543 7.07 3 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q5D1E8 65699 599 6.5 1 P-body;Cytosol;Nucleoplasm;Cytoplasm;Cytoplasmic granule;Rough endoplasmic reticulum membrane;Nucleus NA 0 PE1 -NX_Q5D862 248073 2391 8.45 1 Cytoplasm;Cytoplasmic granule NA 0 PE1 -NX_Q5DID0 144294 1318 5.75 21 Cytoplasm;Cell membrane NA 1 PE2 -NX_Q5DJT8 21363 189 9.67 X NA NA 0 PE2 -NX_Q5DT21 9756 86 9.17 5 Secreted NA 0 PE1 -NX_Q5DX21 46120 431 6.63 3 Cytosol;Nucleus;Cell junction;Cell membrane NA 1 PE1 -NX_Q5EB52 38830 335 9.75 7 Endoplasmic reticulum membrane;Cytosol;Golgi apparatus NA 3 PE1 -NX_Q5EBL2 110887 1059 8.69 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5EBL4 47108 403 5.13 12 Cytosol;Nucleoplasm;Centrosome;Cell membrane;Cilium NA 0 PE1 -NX_Q5EBL8 16131 140 6.65 X Cytoplasm;Nucleus;Secreted NA 0 PE1 -NX_Q5EBM0 49448 449 6.57 2 Mitochondrion NA 0 PE1 -NX_Q5EBM4 19729 170 9.47 19 Nucleus NA 0 PE5 -NX_Q5EBN2 24047 209 8.83 4 Nucleolus;Endoplasmic reticulum NA 0 PE2 -NX_Q5EE01 10061 88 11.29 6 Kinetochore;Nucleolus;Nucleoplasm;Nucleus;Nucleus matrix;Centromere NA 0 PE1 -NX_Q5EG05 22625 197 8.72 11 Mitochondrion NA 0 PE1 -NX_Q5F1R6 62028 531 5.34 5 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus Bone marrow failure syndrome 3 0 PE1 -NX_Q5FBB7 64190 561 9.27 3 Kinetochore;Cytosol;Centrosome;Nucleoplasm;Nucleus;Centromere;Spindle pole Chronic atrial and intestinal dysrhythmia 0 PE1 -NX_Q5FVE4 74354 666 8.67 19 Cytosol;Cytoplasm;Membrane NA 0 PE1 -NX_Q5FWE3 102197 981 7.7 3 Cytosol;Nucleus;Cell membrane;Membrane NA 7 PE1 -NX_Q5FWF4 123248 1079 8.74 2 Nucleus;Chromosome NA 0 PE1 -NX_Q5FWF5 94983 840 9.27 18 Nucleus;Chromosome NA 0 PE1 -NX_Q5FWF6 49984 425 9.3 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5FWF7 18241 155 6.9 2 Nucleus NA 0 PE1 -NX_Q5FYA8 63525 562 8.48 X Membrane NA 2 PE2 -NX_Q5FYB0 67235 599 9.15 4 Cytoskeleton;Nucleolus;Secreted NA 0 PE1 -NX_Q5FYB1 64030 569 8.82 5 Golgi apparatus;Endoplasmic reticulum;Secreted NA 0 PE1 -NX_Q5GAN3 17845 156 8.87 14 Secreted NA 0 PE1 -NX_Q5GAN4 17177 147 6.64 14 Cytoplasmic vesicle;Cytoskeleton;Secreted NA 0 PE2 -NX_Q5GAN6 24008 216 4.86 14 Secreted NA 0 PE2 -NX_Q5GFL6 82012 755 8.38 10 Secreted NA 0 PE1 -NX_Q5GH70 43406 373 8.55 8 Mitochondrion;Membrane NA 8 PE1 -NX_Q5GH72 63826 579 9.22 20 Membrane NA 7 PE1 -NX_Q5GH73 71638 641 8.19 8 Cytoskeleton;Membrane NA 7 PE1 -NX_Q5GH76 71501 650 8.08 8 Membrane NA 10 PE1 -NX_Q5GH77 53448 459 9.13 22 Cell membrane NA 10 PE1 -NX_Q5GJ75 32659 292 8.75 15 Cytosol;Nucleoplasm;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q5GLZ8 118563 1057 5.8 10 Cytosol;Nucleolus NA 0 PE1 -NX_Q5H8A3 17731 153 9.76 2 Secreted NA 0 PE2 -NX_Q5H8A4 108173 983 6.7 4 Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum membrane Mental retardation, autosomal recessive 53 12 PE1 -NX_Q5H8C1 244154 2179 5.55 9 Basement membrane Manitoba oculotrichoanal syndrome;Bifid nose, with or without anorectal and renal anomalies;Trigonocephaly 2 0 PE1 -NX_Q5H913 33003 290 9.24 X NA NA 0 PE1 -NX_Q5H943 12784 113 10.2 X Cell membrane NA 1 PE1 -NX_Q5H9B9 46091 411 5.4 X NA NA 0 PE5 -NX_Q5H9E4 34481 307 9.86 X Mitochondrion inner membrane NA 6 PE1 -NX_Q5H9F3 182526 1711 6.9 X Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q5H9I0 44967 405 5.91 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q5H9J7 12602 111 4.73 X Cytoplasm NA 0 PE1 -NX_Q5H9J9 46373 407 5.07 X NA NA 0 PE3 -NX_Q5H9K5 74755 638 8.65 X Nucleoplasm;Nucleus NA 0 PE2 -NX_Q5H9L2 23307 206 4.74 X Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q5H9L4 52588 462 4.55 X Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q5H9M0 79040 696 4.88 X NA NA 0 PE1 -NX_Q5H9R4 39406 360 9.27 X Membrane NA 1 PE1 -NX_Q5H9R7 97669 873 4.5 11 Nucleoplasm;Cytosol;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q5H9S7 58778 520 6.58 2 Nucleoplasm;Nucleolus;Membrane Woodhouse-Sakati syndrome 2 PE1 -NX_Q5H9T9 87956 825 4.22 14 Cytoplasm;Flagellum NA 0 PE1 -NX_Q5H9U9 197674 1706 8.57 4 Cytosol;Cell membrane NA 0 PE1 -NX_Q5HY64 115338 1035 6.74 X NA NA 0 PE2 -NX_Q5HY92 82146 759 6.24 2 Nucleoplasm;Cell membrane;Cell junction;Cytoplasmic vesicle;Cytosol;Nucleus matrix;Centrosome NA 0 PE1 -NX_Q5HY98 54507 468 9.55 19 Nucleus;Centrosome NA 0 PE1 -NX_Q5HYA8 111745 995 6.34 8 Endoplasmic reticulum membrane;Cilium;Cell membrane;Cilium basal body Joubert syndrome 6;COACH syndrome;Nephronophthisis 11;Bardet-Biedl syndrome 14;Meckel syndrome 3 6 PE1 -NX_Q5HYC2 228087 2103 9.18 9 Cytoplasmic vesicle;Cytosol;Nucleus NA 0 PE1 -NX_Q5HYI7 35093 312 7.64 5 Mitochondrion;Mitochondrion outer membrane NA 0 PE1 -NX_Q5HYI8 26423 236 6.6 3 Nucleoplasm NA 0 PE1 -NX_Q5HYJ1 42009 363 9.63 4 Endoplasmic reticulum;Membrane Ventricular tachycardia, catecholaminergic polymorphic, 3 3 PE1 -NX_Q5HYJ3 38708 339 9.38 11 Nucleus speckle;Nucleolus;Nucleus NA 0 PE1 -NX_Q5HYK3 37140 327 6.47 12 Mitochondrion;Nucleolus;Mitochondrion inner membrane NA 0 PE1 -NX_Q5HYK7 86525 790 8.54 4 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q5HYK9 70161 610 9.79 19 Nucleus NA 0 PE1 -NX_Q5HYL7 19025 178 8.52 7 Membrane NA 4 PE2 -NX_Q5HYM0 94205 836 7.6 X Cytoplasmic vesicle;Golgi apparatus;Endoplasmic reticulum NA 0 PE2 -NX_Q5HYN5 21273 189 9.85 X NA NA 0 PE2 -NX_Q5HYR2 20139 192 6.5 X NA NA 0 PE2 -NX_Q5HYW2 76301 709 7.25 X NA NA 0 PE1 -NX_Q5HYW3 64711 569 4.71 X Nucleoplasm NA 0 PE1 -NX_Q5I0G3 58651 518 5.85 2 NA NA 0 PE1 -NX_Q5I0X4 10566 101 8.02 6 Nucleus speckle NA 0 PE1 -NX_Q5I0X7 17296 151 4.86 2 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q5I7T1 55448 473 9.33 12 Cell membrane NA 12 PE1 -NX_Q5IJ48 134265 1285 5.31 9 Apical cell membrane;Secreted Ventriculomegaly with cystic kidney disease;Focal segmental glomerulosclerosis 9 1 PE1 -NX_Q5J5C9 8456 76 8.99 20 Secreted NA 0 PE1 -NX_Q5J8M3 20087 183 8.84 15 Focal adhesion;Cell junction;Membrane NA 2 PE1 -NX_Q5J8X5 17307 152 8.82 11 Membrane NA 4 PE2 -NX_Q5JNZ3 76322 666 9.03 6 Nucleus NA 0 PE1 -NX_Q5JNZ5 13002 115 10.55 X NA NA 0 PE5 -NX_Q5JPB2 177949 1677 8.67 20 NA NA 0 PE1 -NX_Q5JPE7 139439 1267 5.5 16 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q5JPF3 199748 1778 8.02 2 NA NA 0 PE1 -NX_Q5JPH6 58689 523 8.97 16 Mitochondrion matrix;Mitochondrion;Nucleoplasm Combined oxidative phosphorylation deficiency 12 0 PE1 -NX_Q5JPI3 37541 329 6.01 3 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q5JPI9 31830 291 5.77 10 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q5JQC4 30100 288 4.2 X NA NA 0 PE1 -NX_Q5JQC9 94477 854 6.56 X Flagellum NA 0 PE1 -NX_Q5JQD4 7832 70 4.43 X Secreted NA 0 PE5 -NX_Q5JQF7 7289 62 11.22 6 NA NA 0 PE4 -NX_Q5JQF8 22799 200 9.18 X NA NA 0 PE1 -NX_Q5JQS5 35342 317 9.12 1 Cell membrane NA 7 PE2 -NX_Q5JQS6 15712 135 6.22 1 Cytosol NA 0 PE1 -NX_Q5JR12 54834 505 7.19 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q5JR59 150195 1369 6.23 13 Cytoskeleton NA 0 PE1 -NX_Q5JR98 23353 221 9.87 1 NA NA 0 PE1 -NX_Q5JRA6 213702 1907 4.76 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q5JRC9 90592 791 9.24 X NA NA 0 PE1 -NX_Q5JRK9 12041 111 4.06 X NA NA 0 PE1 -NX_Q5JRM2 39944 361 9.59 X Membrane NA 1 PE1 -NX_Q5JRS4 36549 329 8.66 1 Cell membrane NA 7 PE3 -NX_Q5JRV8 38449 349 8.23 X Nucleus;Membrane NA 4 PE2 -NX_Q5JRX3 117413 1037 6.45 10 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q5JS13 62133 557 9.21 9 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q5JS37 38283 347 5.98 13 Secreted NA 0 PE1 -NX_Q5JS54 13775 123 6.04 6 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 -NX_Q5JSH3 101366 913 5.29 X Endosome membrane;Cytosol;Perinuclear region;trans-Golgi network;Golgi apparatus NA 0 PE1 -NX_Q5JSJ4 96673 861 8.89 X Mitochondrion;Centrosome NA 0 PE1 -NX_Q5JSL3 237671 2073 7.87 X Nucleolus;Nucleus membrane NA 0 PE1 -NX_Q5JSP0 79401 725 5.78 9 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q5JSQ8 14546 128 5.41 6 NA NA 0 PE5 -NX_Q5JSS6 10795 88 9.14 10 NA NA 0 PE1 -NX_Q5JST6 87397 749 7.14 X NA NA 0 PE1 -NX_Q5JSZ5 242967 2229 8.55 9 Cytosol;Nucleus NA 0 PE1 -NX_Q5JT25 25038 222 5.14 X Cytoplasm NA 0 PE1 -NX_Q5JT78 10987 98 7.65 1 NA NA 0 PE4 -NX_Q5JT82 42577 389 6.27 1 Nucleus NA 0 PE1 -NX_Q5JTB6 10309 97 4.8 10 Secreted NA 0 PE1 -NX_Q5JTC6 124029 1135 4.77 X Cytoplasmic vesicle;Cytoplasm;Nucleus;Cell membrane Osteopathia striata with cranial sclerosis 0 PE1 -NX_Q5JTD0 61821 557 5.67 6 Tight junction;Golgi apparatus NA 0 PE1 -NX_Q5JTD7 33409 316 4.73 6 Cytosol NA 0 PE1 -NX_Q5JTH9 143702 1297 8.97 10 Nucleolus;Nucleus membrane NA 1 PE1 -NX_Q5JTJ3 14116 125 8.54 1 Mitochondrion;Mitochondrion intermembrane space Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 0 PE1 -NX_Q5JTN6 34312 314 8.89 9 NA NA 0 PE1 -NX_Q5JTV8 66248 583 8.22 1 Nucleus inner membrane;Nucleus membrane Limb-girdle muscular dystrophy 2Y 1 PE1 -NX_Q5JTW2 76396 689 8.47 9 Centriole;Centrosome;Cilium basal body Cone-rod dystrophy and hearing loss 0 PE1 -NX_Q5JTY5 44038 395 4.76 9 NA NA 0 PE2 -NX_Q5JTZ5 26314 239 8.94 9 Nucleus NA 0 PE1 -NX_Q5JTZ9 107340 985 5.87 6 Mitochondrion Leukoencephalopathy, progressive, with ovarian failure;Combined oxidative phosphorylation deficiency 8 0 PE1 -NX_Q5JU00 55632 501 6.31 6 Cytoplasmic vesicle;Flagellum axoneme;Flagellum NA 0 PE1 -NX_Q5JU67 60533 520 8.88 9 Cytosol;Cell membrane;Cilium basal body NA 0 PE1 -NX_Q5JU69 35714 321 8.13 9 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q5JU85 162784 1488 8.78 X Cytoplasmic vesicle;Cytoplasm Mental retardation, X-linked 1 0 PE1 -NX_Q5JUK2 34526 328 5.27 9 Nucleus speckle;Nucleus;Cytoplasm Ovarian dysgenesis 5 0 PE1 -NX_Q5JUK3 138343 1230 7.48 9 Cell membrane Epileptic encephalopathy, early infantile, 14;Epilepsy, nocturnal frontal lobe, 5 6 PE1 -NX_Q5JUK9 12480 113 4.61 X NA NA 0 PE1 -NX_Q5JUQ0 31968 283 8.22 9 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q5JUR7 25585 227 8.9 13 NA NA 0 PE1 -NX_Q5JUW0 20100 171 5.54 X NA NA 0 PE1 -NX_Q5JUX0 29207 258 6.31 X Nucleoplasm NA 0 PE1 -NX_Q5JV73 199209 1810 8.44 X NA NA 0 PE1 -NX_Q5JVF3 46030 399 8.78 13 Nucleolus;Nucleus NA 0 PE1 -NX_Q5JVG2 98221 852 8.68 9 Nucleoplasm;Cytosol;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q5JVG8 51537 444 9.42 19 Nucleus NA 0 PE1 -NX_Q5JVL4 73990 640 5.82 6 Cytosol;Spindle;Spindle pole;Cell membrane;Centrosome Juvenile myoclonic epilepsy 1;Juvenile absence epilepsy 1 0 PE1 -NX_Q5JVS0 45785 413 6.97 9 Nucleus speckle;Nucleolus;Cajal body;Stress granule;Cytoplasm;Nuclear body;Sarcoplasm;Nucleus;Gem NA 0 PE1 -NX_Q5JVX7 46135 400 9.7 1 NA NA 0 PE2 -NX_Q5JW98 35060 314 6.44 6 Membrane NA 4 PE1 -NX_Q5JWF2 111025 1037 4.91 20 Apical cell membrane;Cell membrane Pseudohypoparathyroidism 1B;Pseudohypoparathyroidism 1C;ACTH-independent macronodular adrenal hyperplasia 1;GNAS hyperfunction 0 PE1 -NX_Q5JWF8 26751 245 9.5 20 NA NA 0 PE1 -NX_Q5JWR5 277355 2465 5.88 6 Cytoplasmic vesicle;Nucleus;Golgi apparatus membrane NA 0 PE1 -NX_Q5JX69 19499 171 9.08 20 Membrane NA 1 PE1 -NX_Q5JX71 19603 171 9.51 20 Membrane NA 1 PE1 -NX_Q5JXA9 36968 342 5.47 20 Nucleus;Membrane NA 1 PE1 -NX_Q5JXB2 17377 153 5.66 X NA NA 0 PE1 -NX_Q5JXC2 42824 388 8.68 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q5JXM2 41330 366 9.41 6 Secreted NA 0 PE2 -NX_Q5JXX5 47728 417 8.5 X Perikaryon;Synapse;Postsynaptic cell membrane;Cell membrane;Dendrite NA 3 PE2 -NX_Q5JXX7 19813 168 6.09 X Nucleolus;Membrane NA 2 PE1 -NX_Q5JY77 156865 1395 4.64 X Cytosol;Cytoplasm NA 0 PE1 -NX_Q5JYT7 130846 1200 5.97 20 Cytoplasmic vesicle;Nucleolus;Golgi apparatus NA 0 PE1 -NX_Q5JZY3 109716 1008 6.52 1 Cell membrane;Secreted NA 1 PE1 -NX_Q5K130 10963 101 9.55 12 NA NA 0 PE5 -NX_Q5K131 14228 121 9.08 12 Cytoplasm NA 0 PE2 -NX_Q5K4E3 91955 855 5.41 16 Extracellular matrix NA 0 PE1 -NX_Q5K4L6 78644 730 7.25 1 Endoplasmic reticulum;Mitochondrion membrane NA 2 PE1 -NX_Q5K651 184281 1589 7.98 7 Cytosol;Cytoplasm;Cytoplasmic vesicle Tumoral calcinosis, normophosphatemic, familial;MIRAGE syndrome 0 PE1 -NX_Q5KSL6 141829 1271 5.36 X Cytoplasm;Membrane NA 0 PE1 -NX_Q5KU26 81515 742 5.48 18 Cytoplasmic vesicle;Cell junction;Golgi apparatus;Membrane NA 1 PE1 -NX_Q5M775 118585 1068 6.29 17 Nucleus;Membrane NA 0 PE1 -NX_Q5M7Z0 49710 435 8.85 17 Endoplasmic reticulum membrane;Nucleolus NA 6 PE1 -NX_Q5M8T2 44183 416 6.94 6 Membrane;Microtubule organizing center NA 10 PE1 -NX_Q5M9N0 127140 1113 6.08 4 NA NA 0 PE1 -NX_Q5M9Q1 46312 402 9.73 6 Nucleus NA 0 PE2 -NX_Q5MAI5 43384 379 9 2 Cytoplasm NA 0 PE2 -NX_Q5MCW4 79583 686 8.97 19 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q5MIZ7 97458 849 4.87 2 Nucleoplasm;Cytoplasm;Nucleus;Centrosome;Nucleus speckle NA 0 PE1 -NX_Q5MJ07 8277 72 8.6 X NA NA 0 PE2 -NX_Q5MJ08 11168 99 9.25 X NA NA 0 PE1 -NX_Q5MJ09 15595 141 4.22 X NA NA 0 PE1 -NX_Q5MJ10 19917 180 3.86 X NA NA 0 PE1 -NX_Q5MJ68 33166 293 8.4 11 Cytoplasm NA 0 PE1 -NX_Q5MJ70 36463 313 9.07 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5MNV8 51968 452 8.69 17 NA NA 0 PE2 -NX_Q5MNZ6 38122 344 7.53 17 Cytosol;Preautophagosomal structure;Nucleus;Golgi apparatus;Lysosome Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 0 PE1 -NX_Q5MNZ9 48673 446 6.14 17 Endosome;Preautophagosomal structure membrane;Clathrin-coated vesicle;Cytoskeleton;trans-Golgi network NA 0 PE1 -NX_Q5MY95 53904 495 5.19 9 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Cell membrane NA 2 PE1 -NX_Q5NDL2 62011 527 6.58 3 Nucleoplasm;Cytosol;Endoplasmic reticulum lumen;Nucleus membrane Adams-Oliver syndrome 4 0 PE1 -NX_Q5NE16 25059 218 6.64 9 NA NA 0 PE5 -NX_Q5NUL3 42241 377 9.52 10 Cell membrane NA 7 PE1 -NX_Q5PR19 24634 223 10.47 9 NA NA 0 PE2 -NX_Q5PRF9 75483 694 6.37 19 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q5PSV4 37629 323 5.04 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5PT55 48871 438 9.02 8 Cell membrane;Membrane NA 9 PE2 -NX_Q5QFB9 12196 102 9.78 9 Endoplasmic reticulum membrane NA 2 PE5 -NX_Q5QGS0 167551 1516 6.03 X Nucleoplasm;Cytoplasm;Nucleus;Midbody Mental retardation, X-linked 98 0 PE1 -NX_Q5QGT7 26068 225 5.63 3 Cell membrane NA 1 PE1 -NX_Q5QGZ9 30762 265 8.87 12 Cell membrane NA 1 PE1 -NX_Q5QJ38 99275 904 4.62 1 Nucleolus;Nucleus membrane NA 0 PE1 -NX_Q5QJ74 48195 424 5.23 11 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q5QJE6 84469 756 5.86 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q5QJU3 31309 275 7.87 9 Golgi apparatus membrane NA 7 PE1 -NX_Q5QNW6 13920 126 10.31 1 Nucleus;Chromosome NA 0 PE1 -NX_Q5QP82 60582 559 7.3 9 Nucleolus NA 0 PE1 -NX_Q5R372 92513 815 5.18 1 Cytoplasmic vesicle;Cytosol;Nucleolus;Golgi apparatus;Early endosome Leukemia, acute myelogenous 0 PE1 -NX_Q5R387 16844 149 8.89 1 Secreted NA 0 PE3 -NX_Q5R3F8 89687 820 7.56 22 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 1 PE1 -NX_Q5R3I4 52787 469 5.61 22 Cytosol NA 0 PE1 -NX_Q5R3K3 34458 315 8.87 6 Membrane NA 4 PE1 -NX_Q5RGS3 14779 127 10.5 9 Membrane NA 1 PE1 -NX_Q5RHP9 168466 1530 4.84 1 NA NA 0 PE1 -NX_Q5RI15 13291 118 9 1 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex IV deficiency 2 PE1 -NX_Q5RIA9 44068 395 4.76 9 Cytoplasm;Nucleus NA 0 PE2 -NX_Q5RKV6 28235 272 6.06 16 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q5RL73 41808 367 8.92 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5S007 286103 2527 6.35 12 Axon;Synaptic vesicle membrane;Perikaryon;Golgi apparatus;Lysosome;Cytoplasm;Mitochondrion matrix;Endosome;Endoplasmic reticulum;Mitochondrion outer membrane;Cytoplasmic vesicle;Dendrite;Mitochondrion inner membrane;Membrane;Mitochondrion;Nucleus Parkinson disease 8 0 PE1 -NX_Q5SGD2 41053 360 5.58 3 Cytosol;Nucleoplasm;Membrane NA 1 PE1 -NX_Q5SNT2 72236 666 9.42 1 Nucleus inner membrane;Nucleus;Spindle pole;Nucleus membrane NA 5 PE1 -NX_Q5SNV9 162423 1468 10.71 1 NA NA 0 PE2 -NX_Q5SQ64 32465 297 8.91 6 Cell membrane NA 1 PE1 -NX_Q5SQ80 94087 823 8.12 9 NA NA 0 PE4 -NX_Q5SQH8 35794 315 8.99 6 NA NA 0 PE1 -NX_Q5SQI0 46810 421 9.97 6 Golgi apparatus;Cytosol;Cytoplasm;Clathrin-coated pit;Axon;Focal adhesion;Spindle;Cytoskeleton NA 0 PE1 -NX_Q5SQN1 52562 464 8.87 1 Cytosol;Perinuclear region;Endomembrane system NA 0 PE1 -NX_Q5SQQ9 34713 334 9.47 10 Nucleolus;Nucleus Microphthalmia, syndromic, 11 0 PE1 -NX_Q5SQS7 51232 431 5.87 10 NA NA 0 PE2 -NX_Q5SQS8 39268 335 9.5 10 NA NA 0 PE1 -NX_Q5SR53 18168 167 9.65 1 NA NA 0 PE5 -NX_Q5SR56 54545 506 5.16 9 Cytosol;Nucleoplasm;Membrane NA 12 PE1 -NX_Q5SRD0 33372 308 5.2 10 NA NA 0 PE3 -NX_Q5SRD1 28048 257 9.47 10 Mitochondrion inner membrane NA 2 PE5 -NX_Q5SRE5 196043 1749 6.27 9 Nuclear pore complex;Nucleus NA 0 PE1 -NX_Q5SRE7 32411 291 5.88 9 Nucleus speckle NA 0 PE1 -NX_Q5SRH9 69778 613 7.25 1 Centrosome NA 0 PE1 -NX_Q5SRI9 53671 462 9.14 6 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q5SRN2 61626 563 9.28 6 Membrane NA 2 PE1 -NX_Q5SRR4 16650 150 8.04 6 Cytosol;Nucleoplasm;Secreted NA 0 PE1 -NX_Q5SSG8 54228 566 4.8 6 Cell membrane NA 1 PE1 -NX_Q5SSJ5 61207 553 9.69 1 Nucleus speckle;Nucleus;Chromosome NA 0 PE1 -NX_Q5SSQ6 16650 148 7.88 6 Cytoplasmic vesicle;Cell junction NA 0 PE2 -NX_Q5ST30 118490 1063 6.56 6 Mitochondrion Combined oxidative phosphorylation deficiency 20 0 PE1 -NX_Q5SV17 19908 173 7.71 1 Synapse;Cell membrane Spinocerebellar ataxia 21 2 PE1 -NX_Q5SV97 81351 790 5.4 1 Cytoplasm;Nucleus NA 0 PE1 -NX_Q5SVJ3 17617 147 9.64 1 NA NA 0 PE1 -NX_Q5SVQ8 105192 909 8.17 1 Cytosol;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q5SVS4 32475 291 9.49 13 Nucleoplasm;Mitochondrion inner membrane NA 6 PE1 -NX_Q5SVZ6 128717 1142 7.51 1 Nucleus;Microtubule organizing center NA 0 PE1 -NX_Q5SW24 82700 774 9.09 6 NA NA 0 PE2 -NX_Q5SW79 175293 1584 6.64 1 Centriole;Spindle NA 0 PE1 -NX_Q5SW96 33885 308 6.25 1 Cytoplasm;Cytoskeleton Hypercholesterolemia, autosomal recessive 0 PE1 -NX_Q5SWA1 79152 713 4.59 1 Golgi apparatus Microcephaly, short stature, and impaired glucose metabolism 2 0 PE1 -NX_Q5SWH9 27551 247 9.98 1 Nucleoplasm;Membrane NA 5 PE1 -NX_Q5SWL7 49433 426 8.7 1 NA NA 0 PE3 -NX_Q5SWL8 55208 479 7.99 1 NA NA 0 PE3 -NX_Q5SWW7 16057 151 6.95 10 Nucleus NA 0 PE1 -NX_Q5SWX8 51103 454 5.62 1 Nucleoplasm;Cell membrane;Membrane NA 2 PE1 -NX_Q5SXH7 51763 462 5.55 10 Centrosome NA 0 PE1 -NX_Q5SXM1 61411 525 9.36 1 Mitochondrion;Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q5SXM2 159433 1469 8.51 9 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q5SXM8 19204 178 9.88 9 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q5SY13 6588 56 10.35 9 NA NA 0 PE5 -NX_Q5SY16 79323 702 9.3 1 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_Q5SY68 11302 101 4.99 1 NA NA 0 PE1 -NX_Q5SY80 109662 951 6.86 1 Flagellum membrane NA 1 PE1 -NX_Q5SY85 16478 155 9.12 9 NA NA 0 PE4 -NX_Q5SYB0 173437 1578 5.14 9 Cytosol;Cell membrane NA 0 PE1 -NX_Q5SYC1 38000 327 5.8 6 trans-Golgi network membrane;Early endosome membrane;Clathrin-coated vesicle NA 0 PE1 -NX_Q5SYE7 170668 1610 6.52 6 Nucleoplasm;Nucleus membrane NA 0 PE1 -NX_Q5SZB4 47639 431 10.38 9 NA NA 0 PE2 -NX_Q5SZD1 26754 244 8.14 6 Nucleus membrane NA 0 PE1 -NX_Q5SZD4 32704 288 9.06 6 NA NA 0 PE1 -NX_Q5SZI1 28581 272 5.45 1 Membrane NA 1 PE1 -NX_Q5SZJ8 31222 279 8.54 6 Nucleus;Cell membrane NA 0 PE1 -NX_Q5SZK8 351157 3169 4.89 13 Cytosol;Cell membrane Fraser syndrome 2 1 PE1 -NX_Q5SZL2 91808 805 5.98 6 Centrosome NA 0 PE1 -NX_Q5SZQ8 50548 465 8.74 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q5T011 378029 3432 5.85 1 Nucleoplasm;Cytoplasmic vesicle;Cytoskeleton;Lysosome membrane;Peroxisome Epileptic encephalopathy, early infantile, 18 0 PE1 -NX_Q5T013 30406 277 5.36 1 Cytosol;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q5T035 20715 196 6.78 9 Mitochondrion NA 0 PE4 -NX_Q5T036 27929 256 11.93 9 NA NA 0 PE2 -NX_Q5T089 53850 497 6.64 1 Mitochondrion;Nucleus NA 0 PE1 -NX_Q5T0B9 45814 420 9.7 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q5T0D9 30212 272 6.85 1 Cytoplasmic vesicle;Cytosol;Synaptic vesicle membrane NA 0 PE1 -NX_Q5T0F9 94224 858 5.18 1 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q5T0J3 15074 134 9.92 1 NA NA 0 PE2 -NX_Q5T0J7 26518 233 9.22 1 Cytoskeleton NA 0 PE1 -NX_Q5T0L3 29150 261 7.48 1 Nucleus membrane NA 0 PE1 -NX_Q5T0N1 125721 1121 5.57 10 Cilium NA 0 PE1 -NX_Q5T0N5 70065 605 6.2 1 Cytosol;Cytoplasm;Cell cortex;Cell membrane;Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 -NX_Q5T0T0 32965 291 8.1 10 Early endosome membrane;Lysosome membrane;Cytoplasmic vesicle membrane NA 2 PE1 -NX_Q5T0U0 32206 273 6.54 13 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q5T0W9 114799 1011 9.04 6 Cytoplasm;Membrane NA 0 PE1 -NX_Q5T0Z8 124034 1188 9.48 6 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q5T124 57373 520 5.06 1 Cytosol;Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q5T160 65505 578 8.41 6 Mitochondrion matrix;Cytosol;Nucleus Pontocerebellar hypoplasia 6 0 PE1 -NX_Q5T197 80712 706 9.28 1 Cell membrane NA 6 PE1 -NX_Q5T1A1 86230 773 8.51 1 Membrane NA 6 PE1 -NX_Q5T1B0 118027 1012 5.49 1 NA NA 0 PE1 -NX_Q5T1B1 15403 145 6.9 10 NA NA 0 PE2 -NX_Q5T1C6 27130 240 8.58 1 Cytoplasm;Cell membrane;Mitochondrion inner membrane;Ruffle membrane;Mitochondrion intermembrane space;Mitochondrion NA 0 PE1 -NX_Q5T1H1 350796 3165 5.5 6 Secreted Retinitis pigmentosa 25 0 PE1 -NX_Q5T1J5 15490 151 9.95 9 Mitochondrion NA 0 PE5 -NX_Q5T1J6 17173 154 6.49 20 NA NA 0 PE2 -NX_Q5T1M5 133630 1219 5.11 9 Cytosol;Axon;Nucleolus;Early endosome;Cytoplasm NA 0 PE1 -NX_Q5T1N1 92864 836 6.36 1 NA NA 0 PE2 -NX_Q5T1Q4 45346 408 7.04 6 Cytosol;Nucleoplasm;Membrane;Microtubule organizing center NA 10 PE1 -NX_Q5T1R4 259465 2406 7.85 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q5T1S8 11082 102 9.86 1 Cell membrane NA 1 PE2 -NX_Q5T1V6 68810 619 7.18 1 Cytoplasm;Cytoskeleton;Nucleus Orofaciodigital syndrome 5 0 PE1 -NX_Q5T200 196635 1668 9.45 13 Nucleoplasm;Nucleus speckle;Cytoskeleton;Nucleus membrane NA 0 PE1 -NX_Q5T215 20566 181 8.11 6 cis-Golgi network;Endoplasmic reticulum NA 0 PE1 -NX_Q5T230 36439 341 10.9 10 Nucleus NA 0 PE1 -NX_Q5T280 42009 376 7.11 9 Kinetochore;Spindle;Nucleolus;Nucleus;Centrosome NA 0 PE1 -NX_Q5T292 11325 105 9.58 10 Membrane NA 1 PE1 -NX_Q5T2D2 35127 321 9.68 6 Cell membrane NA 1 PE1 -NX_Q5T2D3 45124 398 8.47 1 Cytosol;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q5T2E6 78710 689 6.13 10 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q5T2L2 14588 129 5.92 10 Cytoplasm NA 0 PE5 -NX_Q5T2N8 46380 411 9.37 1 NA NA 0 PE1 -NX_Q5T2Q4 41278 361 6.17 10 NA NA 0 PE3 -NX_Q5T2R2 46261 415 9.17 10 Cytosol;Mitochondrion Coenzyme Q10 deficiency, primary, 2 0 PE1 -NX_Q5T2S8 115679 1044 7.98 10 Cilium axoneme;Cilium basal body Ciliary dyskinesia, primary, 23 0 PE1 -NX_Q5T2T1 65524 576 6.65 10 Adherens junction;Cell junction;Tight junction;Membrane NA 0 PE1 -NX_Q5T2W1 57129 519 5.36 1 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Membrane NA 0 PE1 -NX_Q5T319 15775 152 6.04 20 NA NA 0 PE2 -NX_Q5T3F8 94958 832 7.23 6 Cytoskeleton;Cell membrane;Membrane NA 10 PE1 -NX_Q5T3I0 50381 446 9.64 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q5T3J3 84568 769 9.72 1 Nucleus;Nucleus matrix;Chromosome;Microtubule organizing center NA 0 PE1 -NX_Q5T3U5 161629 1492 6.64 6 Cell membrane NA 17 PE1 -NX_Q5T3Y7 11178 98 9.18 6 NA NA 0 PE5 -NX_Q5T440 38155 356 9.88 1 Mitochondrion Spastic paraplegia 74, autosomal recessive;Multiple mitochondrial dysfunctions syndrome 3 0 PE1 -NX_Q5T442 47002 439 7.56 1 Gap junction;Cell membrane Spastic paraplegia 44, autosomal recessive;Leukodystrophy, hypomyelinating, 2;Lymphedema, hereditary, 1C 4 PE1 -NX_Q5T447 97113 861 5.47 1 Perinuclear region NA 0 PE1 -NX_Q5T481 134357 1227 5.48 10 Cytoskeleton;Nucleolus;Nucleus;Golgi apparatus Cardiomyopathy, dilated 1DD 0 PE1 -NX_Q5T4B2 67592 595 5.7 9 Endoplasmic reticulum lumen;Nucleus;Cell junction;Nucleolus NA 0 PE1 -NX_Q5T4D3 82991 741 9.11 13 Cytoplasmic vesicle;Membrane NA 12 PE1 -NX_Q5T4F4 45843 411 5.09 10 Cytosol;Endoplasmic reticulum membrane;Nucleoplasm;Recycling endosome membrane;Growth cone membrane Spastic paraplegia 33, autosomal dominant 2 PE1 -NX_Q5T4F7 35563 317 8.88 10 Secreted NA 0 PE1 -NX_Q5T4H9 14851 136 11.17 10 Nucleoplasm NA 0 PE2 -NX_Q5T4I8 17383 152 4.52 6 Nucleus speckle NA 0 PE2 -NX_Q5T4S7 573841 5183 5.7 1 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Membrane;Cytoskeleton;Centrosome NA 2 PE1 -NX_Q5T4T1 14360 132 10.4 6 Centrosome;Cell membrane NA 3 PE1 -NX_Q5T4T6 93599 812 5.57 6 Nucleoplasm;Centromere;Nucleus NA 0 PE1 -NX_Q5T4W7 22878 220 11.7 1 Secreted NA 0 PE1 -NX_Q5T5A4 19350 169 9.27 1 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q5T5A8 9729 94 8.73 1 NA NA 0 PE1 -NX_Q5T5B0 9507 92 9.07 1 NA NA 0 PE1 -NX_Q5T5C0 127573 1151 6.96 6 Synapse;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle membrane;Synaptic vesicle NA 0 PE1 -NX_Q5T5D7 43945 378 9.06 1 Cytosol;Nucleus NA 0 PE1 -NX_Q5T5F5 14090 129 11.14 1 NA NA 0 PE2 -NX_Q5T5J6 103222 900 8.98 1 Cytosol NA 0 PE1 -NX_Q5T5M9 42581 372 6.75 10 Nucleoplasm;Golgi apparatus NA 0 PE2 -NX_Q5T5N4 53772 469 8.61 6 Mitochondrion NA 0 PE2 -NX_Q5T5P2 214116 1943 6.59 10 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q5T5S1 62689 534 8.93 9 NA NA 0 PE1 -NX_Q5T5U3 217331 1957 7.85 10 Cytoskeleton;Cytoplasmic vesicle membrane;Golgi apparatus membrane;Cell junction;Cell membrane NA 0 PE1 -NX_Q5T5X7 94475 828 5.29 6 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q5T5Y3 177972 1602 6.28 9 Cytosol;Cytoskeleton;Spindle NA 0 PE1 -NX_Q5T601 101365 910 8.91 6 Cell membrane;Secreted NA 7 PE1 -NX_Q5T619 62341 568 8.97 1 Nucleus NA 0 PE1 -NX_Q5T653 33301 305 11.29 6 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q5T655 103417 872 8.44 10 Nucleus;Cilium NA 0 PE1 -NX_Q5T681 25128 223 7.08 10 NA NA 0 PE1 -NX_Q5T686 16773 147 10.84 10 Nucleus;Cell membrane NA 0 PE1 -NX_Q5T699 46784 404 8.77 6 NA NA 0 PE5 -NX_Q5T6C5 77181 722 9.4 1 Cytoplasmic vesicle;Cytosol;Nucleolus NA 0 PE1 -NX_Q5T6F0 50517 453 9.23 9 Cytoplasm;Centrosome NA 0 PE1 -NX_Q5T6F2 117116 1119 6.89 9 Cytosol NA 0 PE1 -NX_Q5T6J7 20578 187 5.84 9 Mitochondrion;Cytosol NA 0 PE1 -NX_Q5T6L9 77788 678 6.28 6 Cytosol;Endoplasmic reticulum membrane Periventricular nodular heterotopia 6 2 PE1 -NX_Q5T6M2 23040 205 11.95 6 NA NA 0 PE5 -NX_Q5T6R2 15541 138 6.89 13 NA NA 0 PE5 -NX_Q5T6S3 65591 580 9.08 9 Nucleus NA 0 PE1 -NX_Q5T6V5 39029 341 5.61 9 Golgi apparatus NA 0 PE1 -NX_Q5T6X4 17685 162 10.77 6 Membrane NA 1 PE1 -NX_Q5T6X5 104753 926 8.29 6 Cell membrane NA 7 PE1 -NX_Q5T700 21834 205 5.33 1 Nucleoplasm;Golgi apparatus;Membrane NA 1 PE1 -NX_Q5T742 14441 122 10.26 10 Secreted NA 0 PE2 -NX_Q5T749 64136 579 8.72 1 Cytoplasm NA 0 PE1 -NX_Q5T750 26238 250 8.41 1 NA NA 0 PE1 -NX_Q5T751 11543 118 8.83 1 NA NA 0 PE2 -NX_Q5T752 11230 114 8.82 1 NA NA 0 PE1 -NX_Q5T753 11616 118 8.71 1 NA NA 0 PE1 -NX_Q5T754 11654 118 8.83 1 NA NA 0 PE1 -NX_Q5T764 54993 474 7.62 10 NA NA 0 PE1 -NX_Q5T7B8 151903 1368 6.69 9 Centriole NA 0 PE1 -NX_Q5T7M4 32416 302 9.41 1 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q5T7M9 49024 428 6.92 1 Endoplasmic reticulum membrane;Cytosol;Nucleus NA 1 PE1 -NX_Q5T7N2 98850 865 4.87 1 NA NA 0 PE1 -NX_Q5T7N3 107342 995 5.15 1 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q5T7N8 24905 215 11.93 9 NA NA 0 PE3 -NX_Q5T7P2 10982 110 8.84 1 NA NA 0 PE1 -NX_Q5T7P3 11626 118 8.83 1 NA NA 0 PE1 -NX_Q5T7P6 15193 136 4.87 1 Membrane NA 2 PE2 -NX_Q5T7P8 57325 510 8.47 1 Cytoplasmic vesicle;Cytosol;Synaptic vesicle membrane;Cell membrane;Membrane NA 1 PE1 -NX_Q5T7R7 22411 199 7.67 1 Membrane NA 1 PE1 -NX_Q5T7V8 44993 394 6.66 1 Cytosol;Cytoplasm;Nucleus;Golgi apparatus Geroderma osteodysplasticum 0 PE1 -NX_Q5T7W0 104956 954 6.7 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5T7W7 58263 516 6.89 9 Nucleoplasm NA 0 PE1 -NX_Q5T848 135489 1215 8.57 10 Cytosol;Cell membrane NA 7 PE1 -NX_Q5T870 12904 116 4.96 1 NA NA 0 PE1 -NX_Q5T871 10697 98 8.44 1 NA NA 0 PE1 -NX_Q5T890 177127 1561 8.83 9 Mitochondrion;Cytosol;Nucleus;Centrosome;Nucleoplasm Bone marrow failure syndrome 2 0 PE1 -NX_Q5T8A7 127351 1209 8.84 9 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q5T8D3 60092 534 5.19 10 Peroxisome membrane;Peroxisome NA 1 PE1 -NX_Q5T8I3 39308 360 6.62 1 Cytosol;Nucleolus NA 0 PE1 -NX_Q5T8I9 44525 393 5.16 1 Cytoplasm;Focal adhesion;Cell membrane NA 0 PE1 -NX_Q5T8P6 113597 1007 9.21 13 Nucleus speckle NA 0 PE1 -NX_Q5T8R8 31184 295 11.77 9 NA NA 0 PE1 -NX_Q5T953 42109 404 6.45 9 Nucleus NA 0 PE1 -NX_Q5T9A4 72573 648 9.3 1 Mitochondrion inner membrane NA 0 PE1 -NX_Q5T9C2 41785 384 8.83 9 Cytosol NA 0 PE1 -NX_Q5T9C9 44572 394 9.63 9 Cytosol;Cytoplasm;Membrane NA 0 PE1 -NX_Q5T9G4 38632 340 8.02 6 Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q5T9L3 62253 541 6.98 1 Endoplasmic reticulum membrane;Cytoplasmic vesicle membrane;Early endosome membrane;Golgi apparatus membrane;Cell membrane NA 7 PE1 -NX_Q5T9S5 168962 1454 5.52 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q5T9Z0 31315 273 8.02 1 Membrane NA 6 PE2 -NX_Q5TA31 26190 235 5.7 1 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q5TA45 67663 600 8.27 1 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q5TA50 24365 214 6.71 1 Cytosol;Endosome membrane;trans-Golgi network membrane;Cell membrane;Nucleus outer membrane NA 0 PE1 -NX_Q5TA76 9146 89 8.81 1 NA NA 0 PE1 -NX_Q5TA77 9812 95 8.57 1 NA NA 0 PE1 -NX_Q5TA78 9980 99 8.64 1 NA NA 0 PE1 -NX_Q5TA79 10846 106 8.32 1 NA NA 0 PE1 -NX_Q5TA81 11224 110 8.56 1 NA NA 0 PE1 -NX_Q5TA82 11180 110 8.54 1 NA NA 0 PE1 -NX_Q5TA89 18226 166 9.52 1 Cytosol;Nucleoplasm;Nucleus;Nucleus speckle NA 0 PE2 -NX_Q5TAA0 63361 569 5.29 1 NA NA 0 PE1 -NX_Q5TAB7 13906 128 4.42 6 Nucleus Spondylocostal dysostosis 6, autosomal recessive 0 PE1 -NX_Q5TAG4 167689 1457 4.75 1 Cytoplasm NA 0 PE2 -NX_Q5TAH2 129053 1124 6.5 1 Membrane NA 15 PE1 -NX_Q5TAP6 87188 766 6.7 13 Nucleolus NA 0 PE1 -NX_Q5TAQ9 66852 597 5.21 1 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Giant axonal neuropathy 2, autosomal dominant 0 PE1 -NX_Q5TAT6 69950 717 9.27 10 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 19 1 PE1 -NX_Q5TAX3 185166 1644 8.3 1 Cytosol;Cytoplasm;Cytoplasmic ribonucleoprotein granule;Nucleolus;Nucleus NA 0 PE1 -NX_Q5TB30 92960 811 8.91 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q5TB80 161943 1403 5.36 6 Centriole;Cytosol;Spindle;Nucleus;Cell membrane NA 0 PE1 -NX_Q5TBA9 338875 3013 5.66 13 Cytoplasm;Centrosome;Spindle pole NA 0 PE1 -NX_Q5TBB1 35139 312 9.19 13 Nucleus Aicardi-Goutieres syndrome 2 0 PE1 -NX_Q5TBC7 17725 163 4.33 1 NA NA 0 PE1 -NX_Q5TBE3 11254 101 9.26 9 NA NA 0 PE1 -NX_Q5TBK1 28981 243 10.07 13 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q5TC04 10240 95 6.05 1 NA NA 0 PE5 -NX_Q5TC12 36437 328 8.12 1 Mitochondrion NA 0 PE1 -NX_Q5TC63 38554 336 9 13 NA NA 0 PE1 -NX_Q5TC79 56055 503 6.3 1 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q5TC82 125736 1133 6.86 1 Cytosol;Cytoplasmic granule;P-body;Cell membrane NA 0 PE1 -NX_Q5TC84 51252 451 5.81 6 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q5TCH4 59246 519 9.21 1 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_Q5TCM9 11795 118 8.75 1 NA NA 0 PE1 -NX_Q5TCQ9 162949 1481 8.26 1 Nucleus;Tight junction;Cell membrane;Cell junction NA 0 PE1 -NX_Q5TCS8 221413 1911 4.96 6 Nucleoplasm;Cytoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q5TCX8 113957 1036 8.97 1 Cytosol;Cell membrane NA 0 PE1 -NX_Q5TCY1 142737 1321 5.46 6 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q5TCZ1 125289 1133 9.01 10 Cytoplasm;Podosome NA 0 PE1 -NX_Q5TD94 80733 716 4.38 6 Nucleus;Cilium;Cilium axoneme Ciliary dyskinesia, primary, 11 0 PE1 -NX_Q5TD97 32720 284 7.77 6 Nucleus NA 0 PE1 -NX_Q5TDH0 44523 399 4.95 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q5TDP6 57278 509 5.96 6 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q5TEA3 132287 1177 6.11 20 Cytosol;Nucleolus NA 0 PE1 -NX_Q5TEA6 77964 688 9.25 20 Membrane NA 1 PE1 -NX_Q5TEC3 60461 545 6.88 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5TEJ8 72049 643 5.77 1 Golgi apparatus NA 0 PE1 -NX_Q5TEU4 38918 345 6.14 20 Mitochondrion inner membrane Mitochondrial complex I deficiency;Leigh syndrome 0 PE1 -NX_Q5TEV5 9093 83 9.72 1 Secreted NA 0 PE3 -NX_Q5TEZ4 8388 76 8.84 6 NA NA 0 PE5 -NX_Q5TEZ5 38553 329 6.49 6 Nucleoplasm NA 0 PE1 -NX_Q5TF21 103199 947 5.81 6 Cytosol;Nucleus;Membrane NA 1 PE1 -NX_Q5TF39 56218 518 5.27 6 Cytoskeleton;Apical cell membrane NA 12 PE1 -NX_Q5TF58 57328 517 4.86 1 Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q5TFE4 51845 455 5.94 6 NA NA 0 PE1 -NX_Q5TFG8 24665 222 10.32 6 NA NA 0 PE1 -NX_Q5TFQ8 43359 398 7.7 20 Membrane NA 1 PE1 -NX_Q5TG30 68908 622 7.7 20 Nucleoplasm;Cytosol;Centrosome;Cell membrane NA 0 PE2 -NX_Q5TG53 16212 156 10.6 1 NA NA 0 PE5 -NX_Q5TG92 13826 126 10.19 1 NA NA 0 PE2 -NX_Q5TGI0 46843 409 5.34 6 Nucleoplasm;Membrane NA 1 PE1 -NX_Q5TGI4 19231 173 9.19 6 Cytoplasmic vesicle NA 0 PE2 -NX_Q5TGJ6 27234 251 4.5 6 NA NA 0 PE1 -NX_Q5TGL8 26560 231 4.94 6 Cell membrane NA 0 PE1 -NX_Q5TGP6 65050 573 5.94 1 NA NA 0 PE1 -NX_Q5TGS1 19968 186 9.74 1 Nucleus NA 0 PE3 -NX_Q5TGU0 19129 170 8.48 6 Endoplasmic reticulum membrane NA 5 PE1 -NX_Q5TGY1 67910 634 5.59 1 Endoplasmic reticulum;Membrane NA 3 PE1 -NX_Q5TGY3 168349 1603 9.21 1 Nucleus Mental retardation, autosomal dominant 25 0 PE1 -NX_Q5TGZ0 8808 78 8.69 1 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_Q5TH69 240652 2177 5.54 6 Cytoplasm;Secretory vesicle;Secretory vesicle membrane NA 1 PE1 -NX_Q5TH74 36786 334 9.79 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q5THJ4 491916 4388 6.15 1 Cytoplasmic vesicle;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q5THK1 237300 2151 5.93 22 Nucleoplasm NA 0 PE1 -NX_Q5THR3 172930 1501 8.67 22 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5TI25 105853 921 4.5 1 Cytoplasm NA 0 PE2 -NX_Q5TIA1 141161 1274 6.24 22 Nucleoplasm;Cell membrane NA 0 PE2 -NX_Q5TID7 60103 509 5.7 1 Nucleus speckle;Cytoskeleton;Flagellum NA 0 PE1 -NX_Q5TIE3 133802 1220 8.45 1 Mitochondrion;Cytosol;Cell membrane;Secreted NA 0 PE1 -NX_Q5TKA1 61946 542 9.17 1 Nucleoplasm NA 0 PE1 -NX_Q5TYM5 16619 149 5.54 1 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q5TYW1 122274 1059 8.63 9 Nucleus NA 0 PE1 -NX_Q5TYW2 94048 823 7.97 9 Cell membrane NA 0 PE2 -NX_Q5TYX0 54886 476 8.53 1 NA NA 0 PE2 -NX_Q5TZ20 34890 316 8.85 1 Cell membrane NA 7 PE2 -NX_Q5TZA2 228523 2017 5.45 1 Centriole;Centrosome;Cell membrane;Cilium basal body NA 0 PE1 -NX_Q5TZF3 29977 266 4.62 1 NA NA 0 PE1 -NX_Q5TZJ5 148561 1347 9.07 9 Membrane NA 1 PE3 -NX_Q5TZK3 14773 123 10.66 9 NA NA 0 PE1 -NX_Q5U3C3 33508 297 8.41 X Cytoplasmic vesicle;Cell junction;Membrane NA 7 PE1 -NX_Q5U4N7 28211 250 12.03 20 Mitochondrion NA 0 PE2 -NX_Q5U4P2 41128 390 8.94 16 Membrane NA 1 PE1 -NX_Q5U5Q3 69366 659 4.93 18 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q5U5R9 88122 776 8.42 10 Nucleoplasm NA 0 PE1 -NX_Q5U5X0 11955 104 9.67 5 Mitochondrion matrix Mitochondrial complex III deficiency, nuclear 8 0 PE1 -NX_Q5U5X8 46792 452 9.2 12 Mitochondrion;Nucleoplasm;Focal adhesion;Cell membrane NA 0 PE1 -NX_Q5U5Z8 104194 902 9.14 11 Centriole;Cytosol;Cilium basal body NA 0 PE1 -NX_Q5U623 75764 682 7.96 16 Nucleus NA 0 PE1 -NX_Q5U649 27626 245 7.73 12 Cytosol;Nucleus NA 0 PE1 -NX_Q5U651 103457 963 8.17 19 Perinuclear region;Golgi stack NA 0 PE1 -NX_Q5UAW9 36623 335 9.27 1 Cilium membrane;Nucleolus;Cell junction;Cell membrane NA 7 PE1 -NX_Q5UCC4 27347 262 5.78 19 Secreted;Membrane NA 1 PE1 -NX_Q5UE93 84258 754 7.58 17 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q5UIP0 274466 2472 5.39 2 Spindle;Nucleus;Chromosome;Cell membrane;Telomere NA 0 PE1 -NX_Q5VIR6 79653 699 5.74 17 Cytosol;Endosome membrane;Recycling endosome;trans-Golgi network membrane;Golgi apparatus Pontocerebellar hypoplasia 2E 0 PE1 -NX_Q5VIY5 60573 522 9.1 19 Nucleus NA 0 PE1 -NX_Q5VSD8 8201 79 9.82 9 NA NA 0 PE4 -NX_Q5VSG8 51317 457 6.47 1 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q5VSL9 95576 837 5.92 1 Cytosol;Cytoplasm NA 0 PE1 -NX_Q5VSP4 17918 162 4.93 9 Secreted NA 0 PE5 -NX_Q5VSR9 8263 72 5.79 X NA NA 0 PE3 -NX_Q5VST6 32215 288 5.89 9 Postsynaptic density;Recycling endosome membrane;Cell membrane;Dendritic spine NA 0 PE1 -NX_Q5VST9 868484 7968 5.69 1 Cytosol;Cell membrane;Nucleus;Sarcolemma;M line;Z line NA 0 PE1 -NX_Q5VSY0 42078 366 8.89 9 Cytosol;Golgi apparatus;Microtubule organizing center NA 0 PE1 -NX_Q5VT03 86276 806 6.98 10 NA NA 0 PE3 -NX_Q5VT06 350930 3117 5.95 1 Centriole;Spindle;Nucleus;Centrosome;Cilium basal body NA 0 PE1 -NX_Q5VT25 197307 1732 6.16 1 Cytoplasm;Cytoskeleton;Lamellipodium NA 0 PE1 -NX_Q5VT28 7388 67 7.82 9 NA NA 0 PE3 -NX_Q5VT33 9515 79 10.54 X NA NA 0 PE4 -NX_Q5VT40 29835 261 9.46 1 Cytoplasmic vesicle;Golgi apparatus NA 0 PE2 -NX_Q5VT52 156020 1461 6.97 1 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q5VT66 37499 337 9.12 1 Mitochondrion;Membrane;Mitochondrion outer membrane NA 1 PE1 -NX_Q5VT79 36879 327 5.56 10 NA NA 0 PE1 -NX_Q5VT97 133230 1194 8.83 1 Nucleolus;Golgi apparatus NA 0 PE1 -NX_Q5VT98 54784 475 8.45 1 NA NA 0 PE3 -NX_Q5VT99 32082 294 4.82 1 Cell membrane NA 1 PE1 -NX_Q5VTA0 54769 474 8.41 1 NA NA 0 PE2 -NX_Q5VTB9 62765 566 5.7 1 Cytoplasm NA 0 PE1 -NX_Q5VTD9 37492 330 9.25 9 Nucleus Bleeding disorder, platelet-type 17 0 PE1 -NX_Q5VTE0 50185 462 9.15 9 Cytoplasm NA 0 PE5 -NX_Q5VTE6 62339 544 8 1 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q5VTH2 19293 177 10.09 1 Apical cell membrane;Cilium;Cilium basal body NA 0 PE1 -NX_Q5VTH9 94573 848 5.53 1 NA NA 0 PE1 -NX_Q5VTJ3 84479 777 7.93 1 Nucleus speckle;Membrane NA 1 PE1 -NX_Q5VTL7 78236 733 5.46 1 Nucleoplasm;Cytoskeleton;Secreted NA 0 PE1 -NX_Q5VTL8 64468 546 10.54 1 Nucleus NA 0 PE1 -NX_Q5VTM2 77972 703 8.14 10 NA NA 0 PE2 -NX_Q5VTQ0 76956 682 7.16 9 Endoplasmic reticulum NA 0 PE1 -NX_Q5VTR2 113662 975 5.73 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5VTT2 26445 229 6.75 9 Cytoplasm;Cell membrane NA 1 PE1 -NX_Q5VTT5 162189 1437 5.89 1 Cytoplasmic vesicle;M line NA 0 PE1 -NX_Q5VTU8 5807 51 10.15 13 Mitochondrion;Mitochondrion inner membrane NA 0 PE3 -NX_Q5VTY9 57313 493 6.9 1 Endoplasmic reticulum membrane;Golgi apparatus NA 10 PE1 -NX_Q5VU36 148687 1347 9 9 Membrane NA 1 PE3 -NX_Q5VU43 265103 2346 5.35 1 Cytoskeleton;Centrosome;Golgi apparatus NA 0 PE1 -NX_Q5VU57 58230 503 8.66 1 Cytosol;Centriole;Golgi apparatus;Cilium basal body NA 0 PE2 -NX_Q5VU65 210605 1888 7.15 1 Nucleus;Membrane NA 1 PE1 -NX_Q5VU69 12131 101 9.72 1 NA NA 0 PE1 -NX_Q5VU92 51201 463 8.84 X NA NA 0 PE1 -NX_Q5VU97 142290 1274 5.97 1 Nucleolus;Nucleus;Membrane NA 1 PE1 -NX_Q5VUA4 251112 2279 6.78 6 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q5VUB5 97854 890 6.12 10 Nucleoplasm;Cell membrane;Membrane NA 1 PE1 -NX_Q5VUD6 48583 431 9 9 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nucleus NA 1 PE1 -NX_Q5VUE5 15483 145 9.03 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q5VUG0 100563 894 6.14 10 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q5VUJ5 73211 663 6.25 10 NA NA 0 PE5 -NX_Q5VUJ6 84588 765 6.11 X Nucleolus;Cell membrane NA 0 PE1 -NX_Q5VUJ9 29714 269 8.92 1 Cytosol;Flagellum axoneme;Cell membrane NA 0 PE1 -NX_Q5VUM1 12213 108 9.43 6 Mitochondrion matrix;Mitochondrion;Nucleus NA 0 PE1 -NX_Q5VUR7 94108 823 8.12 9 NA NA 0 PE4 -NX_Q5VUY0 46155 407 7.54 1 NA NA 0 PE2 -NX_Q5VUY2 46082 407 8.54 1 Membrane NA 1 PE3 -NX_Q5VV11 10769 94 11.91 9 NA NA 0 PE5 -NX_Q5VV16 45780 416 9.58 9 Nucleus NA 0 PE3 -NX_Q5VV17 51063 481 5.68 10 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q5VV41 80105 709 6.9 1 Cytoplasm NA 0 PE1 -NX_Q5VV42 65111 579 7.2 6 Cytoplasmic vesicle;Endoplasmic reticulum membrane Diabetes mellitus, non-insulin-dependent 1 PE1 -NX_Q5VV43 117763 1072 5.34 6 Cytoplasmic vesicle;Early endosome membrane;Cell membrane Dyslexia 2 1 PE1 -NX_Q5VV52 35810 315 7.9 1 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 -NX_Q5VV63 152639 1379 7.31 10 Mitochondrion;Nucleus;Membrane NA 1 PE1 -NX_Q5VV67 177544 1664 6.11 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5VVB8 14657 128 5.82 6 Membrane NA 3 PE4 -NX_Q5VVC0 20418 180 9.03 1 NA NA 0 PE2 -NX_Q5VVH5 29106 260 9.07 6 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q5VVJ2 95032 828 5.4 1 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q5VVM6 91333 783 5.57 1 NA NA 0 PE2 -NX_Q5VVP1 147818 1343 8.99 9 Membrane NA 1 PE3 -NX_Q5VVQ6 38322 348 5.77 1 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_Q5VVS0 13926 124 6.89 1 NA NA 0 PE5 -NX_Q5VVW2 112852 1013 7.57 9 Cytoplasmic vesicle NA 0 PE1 -NX_Q5VVX9 37741 321 5.06 1 NA NA 0 PE1 -NX_Q5VVY1 32400 283 6.51 1 Nucleus NA 0 PE1 -NX_Q5VW00 50803 463 9.36 X NA NA 0 PE1 -NX_Q5VW22 73127 663 6.41 10 NA NA 0 PE2 -NX_Q5VW32 46476 411 7.55 1 Cytosol;Nucleoplasm;Golgi apparatus;Membrane NA 0 PE1 -NX_Q5VW36 200072 1801 6.17 9 Mitochondrion;Focal adhesion;Membrane NA 3 PE1 -NX_Q5VW38 66990 600 6.77 9 Nucleoplasm;trans-Golgi network membrane;Golgi apparatus NA 7 PE1 -NX_Q5VWC8 27520 232 8.76 9 Endoplasmic reticulum membrane NA 6 PE1 -NX_Q5VWG9 103582 929 9.13 10 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q5VWI1 65660 586 9.84 10 NA NA 0 PE2 -NX_Q5VWJ9 49677 437 5.21 9 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q5VWK0 72239 638 4.84 1 Cytoplasm NA 0 PE2 -NX_Q5VWK5 71722 629 5.32 1 Cell membrane Inflammatory bowel disease 17 1 PE1 -NX_Q5VWM3 55334 479 8.31 1 NA NA 0 PE3 -NX_Q5VWM4 53655 474 5.99 1 NA NA 0 PE2 -NX_Q5VWM5 55420 478 8.82 1 NA NA 0 PE2 -NX_Q5VWM6 54914 474 8.85 1 NA NA 0 PE5 -NX_Q5VWN6 268843 2430 5.61 10 Cytosol;Nucleus NA 0 PE1 -NX_Q5VWP2 44944 391 5.45 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q5VWP3 50429 458 5.96 6 Nucleoplasm;PML body;Nucleus;Nucleus envelope;Sarcolemma NA 0 PE1 -NX_Q5VWQ0 90072 802 8.85 1 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5VWQ8 131625 1189 8.92 9 Cytoplasm;Dendrite;Cell membrane;Membrane NA 0 PE1 -NX_Q5VWT5 82070 728 8.58 1 Membrane raft NA 0 PE1 -NX_Q5VWW1 26719 255 6.29 10 Secreted NA 0 PE1 -NX_Q5VWX1 38927 349 5.94 6 Nucleus NA 0 PE1 -NX_Q5VWZ2 26316 237 7.71 1 Cytosol NA 0 PE1 -NX_Q5VX52 52946 459 8.93 1 NA NA 0 PE2 -NX_Q5VX71 53778 490 4.78 1 Cytoplasmic vesicle;Membrane;Secreted NA 1 PE2 -NX_Q5VXD3 13570 122 4.98 1 Mitochondrion NA 0 PE1 -NX_Q5VXH4 54852 476 8.54 1 NA NA 0 PE2 -NX_Q5VXH5 53627 474 5.99 1 NA NA 0 PE2 -NX_Q5VXI9 45534 398 6.35 10 Secreted Ichthyosis, congenital, autosomal recessive 8 0 PE2 -NX_Q5VXJ0 45563 399 8.39 10 Secreted NA 0 PE2 -NX_Q5VXM1 48752 449 5.81 1 Secreted NA 0 PE2 -NX_Q5VXT5 30156 272 5.4 1 Nucleoplasm;Membrane NA 4 PE1 -NX_Q5VXU1 23831 208 4.94 6 Cytosol;Cell membrane NA 4 PE2 -NX_Q5VXU3 25616 224 4.51 X Cytoplasmic vesicle;Nucleus speckle;Cytosol;Cell membrane NA 0 PE1 -NX_Q5VXU9 165202 1444 5.1 9 Cytosol;Cytoplasmic vesicle;Chromosome NA 0 PE1 -NX_Q5VY09 33704 327 4.91 1 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q5VY43 110666 1037 6.4 1 Nucleoplasm;Cell junction;Cell membrane;Centrosome NA 1 PE1 -NX_Q5VY80 27509 246 5.96 6 Cell membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q5VYJ5 241008 2156 5.04 10 Cytoplasmic vesicle membrane;Golgi apparatus NA 1 PE1 -NX_Q5VYK3 204291 1845 6.74 9 Endoplasmic reticulum-Golgi intermediate compartment;Endosome;Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleus;Multivesicular body;Centrosome NA 0 PE1 -NX_Q5VYM1 117724 1079 7 9 Mitochondrion NA 0 PE1 -NX_Q5VYP0 148706 1347 8.99 9 Membrane NA 1 PE2 -NX_Q5VYS4 34190 303 6.06 13 Cytoplasm NA 0 PE1 -NX_Q5VYS8 171229 1495 6.4 9 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q5VYV0 45581 432 9.55 9 Nucleus NA 0 PE4 -NX_Q5VYV7 45552 408 9.5 20 Cytosol NA 0 PE1 -NX_Q5VYX0 37847 342 6.06 10 Secreted NA 0 PE1 -NX_Q5VYY1 21849 191 9.07 10 Nucleus NA 0 PE1 -NX_Q5VYY2 48233 423 6.64 10 Secreted NA 0 PE2 -NX_Q5VZ03 17614 156 6.9 9 Cytosol NA 0 PE2 -NX_Q5VZ18 53950 495 9.23 1 NA NA 0 PE1 -NX_Q5VZ19 40941 366 8.1 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q5VZ46 126604 1190 9.1 1 Cytoplasmic vesicle;Nucleus membrane NA 0 PE1 -NX_Q5VZ52 18731 161 5.58 9 NA NA 0 PE1 -NX_Q5VZ66 98529 844 5.53 10 Golgi apparatus NA 0 PE1 -NX_Q5VZ72 27768 239 8.62 9 Cell membrane NA 1 PE1 -NX_Q5VZ89 212711 1909 6.39 9 Cytosol;Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Cell membrane;Golgi apparatus NA 0 PE1 -NX_Q5VZB9 53125 504 9.15 9 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q5VZE5 83639 725 6.6 9 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q5VZF2 40518 373 8.77 13 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q5VZI3 37569 342 5.19 9 Cytosol;Cell membrane;Membrane NA 2 PE1 -NX_Q5VZK9 151557 1371 8.02 6 Cytosol;Lamellipodium;Cytoskeleton;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q5VZL5 172788 1548 6.46 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q5VZM2 43250 374 5.85 X Cytoplasm;Lysosome NA 0 PE1 -NX_Q5VZP5 130176 1158 5.1 1 Sarcomere;Nucleoplasm NA 0 PE1 -NX_Q5VZQ5 21545 186 9.79 10 NA NA 0 PE1 -NX_Q5VZR2 79011 741 8.51 9 NA NA 0 PE3 -NX_Q5VZR4 16372 150 7.77 9 Membrane NA 3 PE2 -NX_Q5VZT2 17689 155 10.01 10 NA NA 0 PE2 -NX_Q5VZV1 29565 264 4.85 13 Nucleus NA 0 PE1 -NX_Q5VZY2 30395 271 8.5 10 Nucleolus;Nucleus;Membrane NA 6 PE1 -NX_Q5W041 96405 872 5.89 10 NA NA 0 PE1 -NX_Q5W064 42388 366 6.11 10 NA NA 0 PE2 -NX_Q5W0A0 81686 696 4.73 13 NA NA 0 PE1 -NX_Q5W0B1 81116 726 5.53 13 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q5W0B7 39663 351 9.36 10 Membrane NA 6 PE1 -NX_Q5W0N0 18115 161 8.62 9 Membrane NA 1 PE2 -NX_Q5W0Q7 120440 1092 5.8 13 Cajal body NA 0 PE1 -NX_Q5W0U4 44381 402 5.99 9 Cytosol;Cytoplasm;Membrane;Nucleoplasm NA 0 PE1 -NX_Q5W0V3 86558 765 5.13 10 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q5W0Z9 42278 365 7.87 13 Cytoplasmic vesicle;Mitochondrion;Perinuclear region;Golgi apparatus membrane;Cell membrane NA 4 PE1 -NX_Q5W111 21666 196 6.22 13 Cytoplasmic vesicle NA 0 PE1 -NX_Q5W150 15095 140 9.75 20 NA NA 0 PE1 -NX_Q5W186 18135 159 8.18 20 Secreted NA 0 PE2 -NX_Q5W188 17316 147 4.97 20 Secreted NA 0 PE5 -NX_Q5W5W9 24956 228 5.35 2 Endoplasmic reticulum;Golgi apparatus;Secretory vesicle lumen NA 0 PE2 -NX_Q5W5X9 50009 447 8.6 15 Cytosol;Cell membrane NA 0 PE1 -NX_Q5XG85 10725 94 11.96 9 NA NA 0 PE5 -NX_Q5XG87 82360 772 9.56 5 Nucleoplasm;Cytoplasm;Nucleus membrane;Golgi apparatus NA 0 PE1 -NX_Q5XG92 63529 561 9.37 16 Cytosol;Secreted NA 0 PE1 -NX_Q5XG99 32066 296 5.99 15 Cytosol;Cytoskeleton;Membrane NA 1 PE1 -NX_Q5XKE5 57836 535 6.75 12 NA NA 0 PE1 -NX_Q5XKK7 21103 198 8.54 15 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q5XKL5 42793 378 5.68 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5XKP0 13087 118 9.44 19 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_Q5XKR4 34159 325 9.54 5 Nucleus NA 0 PE1 -NX_Q5XKR9 13109 115 9.64 X NA NA 0 PE2 -NX_Q5XLA6 11868 110 5.34 11 Cytoplasm NA 0 PE1 -NX_Q5XPI4 148515 1314 6.31 3 Cytosol;Cytoplasm NA 0 PE1 -NX_Q5XUX0 60664 539 6.56 16 Nucleoplasm;Cytosol;Golgi apparatus Mental retardation, autosomal recessive 45 0 PE1 -NX_Q5XUX1 54115 488 6.02 19 Cytosol NA 0 PE1 -NX_Q5XX13 119846 1052 9.47 17 Nucleoplasm NA 0 PE1 -NX_Q5XXA6 114078 986 8.76 11 Cytoplasm;Cell membrane NA 8 PE1 -NX_Q5Y7A7 30008 266 6.51 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 -NX_Q5YKI7 12309 109 5.3 6 Cytoplasm;Golgi apparatus;Membrane NA 0 PE5 -NX_Q5ZPR3 57235 534 4.77 15 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q60I27 107748 953 5.75 3 Cytoplasm NA 0 PE1 -NX_Q629K1 9683 86 9.36 8 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q63HK3 110941 967 8.68 16 Nucleoplasm;Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q63HK5 118566 1081 6.83 19 Mitochondrion;Nucleoplasm;Nucleus;Growth cone NA 0 PE1 -NX_Q63HM1 33992 303 5.57 17 Cytosol;Mitochondrion;Nucleus NA 0 PE1 -NX_Q63HM2 132702 1172 5.88 14 Cytosol;Cytoplasm;Nucleus;Membrane NA 15 PE1 -NX_Q63HM9 36313 321 5.87 5 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q63HN1 61860 556 7.14 9 NA NA 0 PE5 -NX_Q63HN8 591407 5207 6.05 17 Cytosol Moyamoya disease 2 0 PE1 -NX_Q63HQ0 34280 302 4.79 4 trans-Golgi network;Late endosome;Golgi apparatus;Cell membrane;Early endosome NA 0 PE1 -NX_Q63HQ2 111271 1017 7.24 5 Synapse;Extracellular matrix NA 0 PE1 -NX_Q63HR2 152580 1409 8.67 12 Focal adhesion;Cell membrane NA 0 PE1 -NX_Q63ZE4 60257 541 8.89 11 Membrane NA 11 PE2 -NX_Q63ZY3 91174 851 5.44 19 Mitochondrion;Cytoplasm Nephrotic syndrome 16;Palmoplantar keratoderma and woolly hair 0 PE1 -NX_Q63ZY6 34347 315 9.01 7 NA NA 0 PE5 -NX_Q641Q2 147184 1341 4.69 10 Early endosome membrane;Cell membrane NA 0 PE1 -NX_Q641Q3 34398 311 8.72 17 Secreted NA 0 PE1 -NX_Q643R3 57219 524 9.17 15 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q64ET8 30490 278 7.6 4 Nucleus NA 0 PE2 -NX_Q64LD2 60161 544 9.21 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q658K8 14137 133 5.94 13 NA NA 0 PE5 -NX_Q658L1 45933 398 9.12 15 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q658N2 65694 575 9.34 17 Nucleoplasm;Golgi apparatus;Membrane NA 1 PE1 -NX_Q658P3 54601 488 8.86 2 Cytosol;Endosome membrane;Nucleolus Anemia, hypochromic microcytic, with iron overload 2 6 PE1 -NX_Q658T7 50084 463 10.2 8 NA NA 0 PE5 -NX_Q658Y4 93909 838 5.95 8 Cytoplasmic vesicle;Nucleoplasm;Cytoskeleton;trans-Golgi network NA 0 PE1 -NX_Q659A1 110011 982 6.69 15 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q659C4 105322 914 7.33 4 Cytosol NA 0 PE1 -NX_Q66GS9 133490 1140 5.87 4 Centriole;Focal adhesion Microcephaly 8, primary, autosomal recessive 0 PE1 -NX_Q66K14 140525 1250 5.14 5 Nucleolus;Nucleus;Cell membrane;Membrane NA 1 PE1 -NX_Q66K41 44235 424 10.42 17 Nucleus NA 0 PE1 -NX_Q66K64 66463 600 6.14 19 Cytoplasmic vesicle;Mitochondrion NA 0 PE1 -NX_Q66K66 39475 360 9.97 2 Cytoplasmic vesicle;Cell membrane;Membrane NA 7 PE1 -NX_Q66K74 112211 1059 6.93 19 Cytosol;Spindle;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q66K79 73655 652 8.22 4 Extracellular matrix NA 0 PE1 -NX_Q66K80 24494 236 10.2 1 NA NA 0 PE5 -NX_Q66K89 83496 784 5.91 16 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q66LE6 52042 453 5.96 10 Cytoplasm NA 0 PE1 -NX_Q66PJ3 44915 421 10.93 12 Nucleus speckle;Nucleolus NA 0 PE1 -NX_Q674R7 101019 924 8.62 7 Autophagosome membrane NA 6 PE1 -NX_Q674X7 86351 775 6.57 1 Nucleus speckle;Cytosol;Cytoplasm;Nucleoplasm;Desmosome;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q676U5 68265 607 6.2 2 Cytosol;Cytoplasm;Preautophagosomal structure membrane Inflammatory bowel disease 10 0 PE1 -NX_Q67FW5 40713 361 6.97 17 Nucleolus NA 0 PE1 -NX_Q684P5 80056 730 6.22 17 Cytosol;Cytoplasm;Perinuclear region;Nucleus membrane NA 0 PE1 -NX_Q685J3 451741 4493 4.03 7 Cell membrane;Secreted NA 1 PE1 -NX_Q687X5 51981 459 9.39 7 Early endosome membrane;Golgi apparatus membrane;Golgi apparatus;Cell membrane NA 6 PE1 -NX_Q68BL7 73054 652 7.89 9 Cytosol;Nucleoplasm;Secreted NA 0 PE1 -NX_Q68BL8 83999 750 5.07 1 Cytosol;Secreted NA 0 PE1 -NX_Q68CJ6 91132 796 8.85 8 Nucleus speckle NA 0 PE2 -NX_Q68CJ9 49077 461 4.99 19 Endoplasmic reticulum membrane;Nucleus NA 1 PE1 -NX_Q68CK6 64271 577 8.5 16 Mitochondrion matrix NA 0 PE1 -NX_Q68CL5 33318 300 6.25 18 Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q68CP4 73293 663 8.69 8 Lysosome membrane Mucopolysaccharidosis 3C;Retinitis pigmentosa 73 11 PE1 -NX_Q68CP9 197391 1835 7.08 12 Nucleoplasm;Nucleus;Cell membrane Coffin-Siris syndrome 6 0 PE1 -NX_Q68CQ1 145647 1323 6.51 1 Membrane NA 2 PE1 -NX_Q68CQ4 87055 756 5.6 1 Nucleoplasm;Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q68CQ7 41935 371 9.37 3 Mitochondrion;Membrane NA 1 PE1 -NX_Q68CR1 128567 1132 6.87 4 Nucleus;Membrane NA 1 PE1 -NX_Q68CR7 97778 880 6.01 4 Membrane NA 2 PE1 -NX_Q68CZ1 151201 1315 5.21 16 Cytosol;Cytoplasm;Cell membrane;Cilium axoneme;Centrosome;Tight junction;Cilium basal body Meckel syndrome 5;COACH syndrome;Joubert syndrome 7 0 PE1 -NX_Q68CZ2 155266 1445 6.34 7 Focal adhesion NA 0 PE1 -NX_Q68CZ6 69650 603 5.4 4 Mitochondrion;Cytoskeleton;Spindle;Centrosome NA 0 PE1 -NX_Q68D06 102045 897 6.55 17 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q68D10 75599 685 9.79 11 Nucleolus;Nucleus NA 0 PE1 -NX_Q68D20 20909 193 5.15 7 NA NA 0 PE1 -NX_Q68D42 25806 235 5.23 9 Nucleoplasm;Cytoplasmic vesicle;Endoplasmic reticulum;Membrane NA 2 PE2 -NX_Q68D51 106865 928 8.75 1 Nucleus NA 0 PE1 -NX_Q68D85 50827 454 5.39 11 Cell membrane NA 1 PE1 -NX_Q68D86 60448 513 5.71 18 Cytosol;Mitochondrion NA 0 PE1 -NX_Q68D91 31372 279 6.41 5 Nucleus NA 0 PE1 -NX_Q68DA7 157578 1419 8.67 15 Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus;Adherens junction NA 0 PE1 -NX_Q68DC2 92219 871 6.91 9 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cilium Nephronophthisis 16 0 PE1 -NX_Q68DD2 95082 849 5.28 15 Cytosol;Cytoplasmic vesicle;Lysosome membrane;Nucleus NA 0 PE1 -NX_Q68DE3 241681 2245 7.41 3 Nucleoplasm;Nucleolus;Nucleus;Centrosome NA 0 PE1 -NX_Q68DH5 81172 695 7.25 5 Nucleoplasm;Cytosol;Membrane NA 9 PE1 -NX_Q68DI1 59613 518 8.68 19 Cytosol;Nucleus NA 0 PE1 -NX_Q68DK2 284576 2539 5.97 14 Centrosome;Midbody Spastic paraplegia 15, autosomal recessive 0 PE1 -NX_Q68DK7 67128 614 9.1 17 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q68DL7 77230 685 9.83 18 Mitochondrion NA 0 PE1 -NX_Q68DN1 224321 1984 10.09 2 Nucleus NA 0 PE1 -NX_Q68DQ2 330633 2970 5.1 3 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q68DU8 49138 428 8.4 5 Nucleus speckle;Postsynaptic cell membrane;Presynaptic cell membrane NA 0 PE1 -NX_Q68DV7 85722 783 8.1 17 Endoplasmic reticulum membrane;Nucleus envelope;Cell membrane Sessile serrated polyposis cancer syndrome 1 PE1 -NX_Q68DX3 144282 1309 6.29 10 Cytoplasm;Basolateral cell membrane;Tight junction NA 0 PE1 -NX_Q68DY1 60893 528 9.29 19 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Nucleus membrane NA 0 PE2 -NX_Q68DY9 55367 489 7.78 19 Cytosol;Nucleus NA 0 PE1 -NX_Q68E01 118070 1043 5.53 1 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q68EA5 64428 555 9.06 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q68EM7 95437 881 7.22 16 Cytosol;Cytoplasm;Cell membrane;Nucleus;Membrane;Tight junction NA 0 PE1 -NX_Q68EN5 53446 471 9.27 16 Nucleoplasm;Cytoplasmic vesicle NA 0 PE2 -NX_Q68G74 39301 356 8.61 1 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q68G75 20326 181 8.74 1 Cytosol;Nucleolus;Membrane NA 1 PE1 -NX_Q68J44 25336 220 5.68 10 Cytoplasm NA 0 PE1 -NX_Q69383 11828 105 10.22 7 Cytoplasm;Nucleolus NA 0 PE1 -NX_Q69384 79218 699 9.14 7 Virion;Cell membrane NA 1 PE1 -NX_Q693B1 25887 232 6.2 17 Nucleoplasm NA 0 PE1 -NX_Q695T7 71110 634 4.92 5 Nucleolus;Apical cell membrane;Cell membrane Hartnup disorder;Hyperglycinuria;Iminoglycinuria 12 PE1 -NX_Q69YG0 16991 159 8.97 3 Nucleoplasm;Nucleolus;Membrane NA 4 PE1 -NX_Q69YH5 112676 1023 8.71 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q69YI7 35164 327 6.73 9 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q69YL0 10891 99 12 3 NA NA 0 PE1 -NX_Q69YN2 60619 538 6.87 10 Nucleoplasm;Golgi apparatus Spinocerebellar ataxia, autosomal recessive, 17 0 PE1 -NX_Q69YN4 202025 1812 4.9 8 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q69YQ0 124602 1117 5.52 22 Spindle;Gap junction;Cytoskeleton Facial clefting, oblique, 1;Opitz GBBB syndrome 2 0 PE1 -NX_Q69YU3 52636 496 9.5 1 Cytosol NA 0 PE1 -NX_Q69YU5 8023 71 9.21 12 Mitochondrion;Centrosome;Cell membrane;Secreted NA 0 PE1 -NX_Q69YW2 15007 141 6.7 1 Cytosol;Cell membrane;Membrane NA 2 PE1 -NX_Q69YZ2 32750 307 11.44 1 Membrane NA 2 PE1 -NX_Q6A162 48139 431 4.35 17 NA NA 0 PE1 -NX_Q6A163 55651 491 5.19 17 NA NA 0 PE1 -NX_Q6A1A2 44765 396 8.61 16 Cytoplasm;Membrane NA 0 PE5 -NX_Q6A555 14575 127 9.56 9 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q6AHZ1 166782 1483 9.38 10 Nucleus NA 0 PE1 -NX_Q6AI08 128781 1181 6.64 17 Mitochondrion NA 0 PE1 -NX_Q6AI12 41088 368 4.88 17 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q6AI14 89814 798 8.76 2 Nucleoplasm;Apical cell membrane;Basolateral cell membrane;Cytoplasmic granule membrane;Cell membrane NA 10 PE2 -NX_Q6AI39 115084 1079 6.38 6 Nucleoplasm NA 0 PE1 -NX_Q6AW86 60602 544 9.78 19 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q6AWC2 133891 1192 5.4 4 Cytoskeleton NA 0 PE1 -NX_Q6AWC8 16804 147 9.84 11 NA NA 0 PE5 -NX_Q6AZW8 38270 331 9.46 3 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q6AZY7 65137 606 6.08 8 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q6AZZ1 56259 485 6.07 11 Cytosol;Perinuclear region;Nucleus NA 0 PE1 -NX_Q6B0B8 52027 471 7.12 11 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE2 -NX_Q6B0I6 58603 523 9.28 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6B0K9 15618 141 6.12 16 NA NA 0 PE1 -NX_Q6B8I1 20658 188 7.08 10 Cytoplasm NA 0 PE1 -NX_Q6B9Z1 13885 124 6.06 19 Cytosol;Secreted NA 0 PE2 -NX_Q6BAA4 46904 426 9.16 1 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_Q6BCY4 31458 276 8.49 11 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q6BDI9 26571 236 6.89 12 Early endosome membrane NA 0 PE1 -NX_Q6BDS2 159485 1440 5.75 6 Cytosol;Cytoplasm;Nucleus membrane;Nucleoplasm NA 0 PE1 -NX_Q6BEB4 41964 398 9.43 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q6DCA0 34499 310 9.18 2 Cytosol;Nucleus NA 0 PE1 -NX_Q6DD87 40428 382 8.25 19 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q6DD88 60542 541 5.43 11 Endoplasmic reticulum membrane;Endoplasmic reticulum Neuropathy, hereditary sensory, 1F 2 PE1 -NX_Q6DHV5 122955 1058 6.68 10 Nucleolus NA 0 PE1 -NX_Q6DHV7 40264 355 5.89 15 Cytoskeleton NA 0 PE1 -NX_Q6DHY5 62231 549 9.2 17 Cell membrane NA 0 PE1 -NX_Q6DJT9 55909 500 8.84 8 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q6DKI1 28661 246 10.51 6 Mitochondrion;Nucleolus NA 0 PE1 -NX_Q6DKI2 39607 356 9.36 17 NA NA 0 PE1 -NX_Q6DKI7 34344 326 9.27 7 Nucleolus;Endoplasmic reticulum;Cell membrane NA 3 PE1 -NX_Q6DKJ4 48392 435 4.88 17 Cytosol;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q6DKK2 42457 380 5.57 17 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 2 0 PE1 -NX_Q6DN03 21472 193 10.7 1 Nucleus;Chromosome NA 0 PE5 -NX_Q6DN12 99596 878 7.48 15 Cytosol;Nucleoplasm;Membrane NA 2 PE1 -NX_Q6DN14 111624 999 8.39 5 Cytosol;Endoplasmic reticulum membrane;Synaptic vesicle membrane;Recycling endosome;Nucleoplasm NA 2 PE1 -NX_Q6DN72 47748 434 7.53 1 Cell membrane NA 1 PE1 -NX_Q6DN90 108314 963 6.49 3 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q6DRA6 18018 164 10.6 1 Nucleus;Chromosome NA 0 PE5 -NX_Q6DT37 172459 1551 5.91 11 Cytosol;Cytoplasm NA 0 PE1 -NX_Q6DWJ6 40679 353 9.43 16 Cell membrane NA 7 PE2 -NX_Q6E0U4 47082 476 6.8 19 Nucleoplasm;Cytosol;Secreted NA 0 PE1 -NX_Q6E213 38094 333 9.42 X Endoplasmic reticulum membrane NA 3 PE1 -NX_Q6EBC2 18205 164 5.28 12 Secreted NA 0 PE1 -NX_Q6ECI4 82650 717 8.91 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6EEV4 15131 148 8.68 15 NA NA 0 PE1 -NX_Q6EEV6 10685 95 6.57 6 NA Diabetes mellitus, insulin-dependent, 5 0 PE1 -NX_Q6EIG7 23998 209 5.86 12 Membrane NA 1 PE1 -NX_Q6EKJ0 107233 949 5.62 7 Nucleus NA 0 PE1 -NX_Q6EMB2 143577 1281 8.82 14 Cytosol;Cytoplasm;Nucleus envelope;Cell membrane;Nucleus;Cilium;Cilium basal body Cone-rod dystrophy 19 0 PE1 -NX_Q6EMK4 71713 673 7.16 16 Mitochondrion;Membrane;Nucleus;Nucleolus;Secreted NA 1 PE1 -NX_Q6F5E7 14331 133 8.23 3 NA NA 0 PE2 -NX_Q6F5E8 154689 1435 6.31 16 Lamellipodium;Cytoskeleton;Ruffle;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q6FHJ7 39827 346 9.12 7 Secreted Pyle disease 0 PE1 -NX_Q6FI13 14095 130 10.9 1 Nucleus;Chromosome NA 0 PE1 -NX_Q6FI81 33582 312 5.44 16 Mitochondrion;Cytoplasm;Nucleus;Mitochondrion intermembrane space NA 0 PE1 -NX_Q6FIF0 22555 208 6.87 15 Cytoplasm NA 0 PE1 -NX_Q6GMR7 58304 532 9.2 X Membrane NA 1 PE1 -NX_Q6GMV1 21132 187 4.96 3 NA NA 0 PE2 -NX_Q6GMV2 47341 418 4.98 2 Mitochondrion NA 0 PE1 -NX_Q6GMV3 15805 140 9.2 2 Nucleoplasm NA 0 PE1 -NX_Q6GPH4 34626 301 8.57 17 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 -NX_Q6GPH6 63395 555 6 2 Membrane NA 1 PE1 -NX_Q6GPI1 27923 263 7.98 16 Extracellular space NA 0 PE1 -NX_Q6GQQ9 92526 843 6.27 1 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q6GTS8 55741 502 6.2 1 Secreted NA 0 PE1 -NX_Q6GTX8 31412 287 5.4 19 Cell membrane NA 1 PE1 -NX_Q6GV28 25828 225 8.4 11 Acrosome membrane NA 4 PE2 -NX_Q6GYQ0 229832 2036 5.79 14 Mitochondrion;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q6H3X3 37106 334 6.88 6 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane;Secreted NA 1 PE1 -NX_Q6H8Q1 67812 611 8.29 4 Nucleoplasm;Cytoplasm;Mitochondrion NA 0 PE1 -NX_Q6H9L7 63906 571 4.7 14 Nucleoplasm;Secreted NA 0 PE1 -NX_Q6HA08 45936 431 7.67 2 Cytoplasm;Secretory vesicle;Cell membrane;Cytoplasmic granule NA 0 PE1 -NX_Q6I9Y2 23743 204 5.47 3 Cytosol;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q6IA17 45679 410 6.02 11 Cytosol;Nucleolus;Membrane NA 1 PE1 -NX_Q6IA69 79285 706 6.02 11 Cytosol NA 0 PE1 -NX_Q6IA86 92500 826 5.6 18 Cytosol;Cytoplasm;Nucleus Mental retardation, autosomal recessive 58 0 PE1 -NX_Q6IAA8 17745 161 5.01 11 Cytoplasmic vesicle;Lysosome membrane;Late endosome membrane;Cell membrane;Golgi apparatus NA 0 PE1 -NX_Q6IAN0 35119 325 9.59 17 Cytosol;Endoplasmic reticulum membrane;Cell junction;Cell membrane NA 1 PE1 -NX_Q6IB77 33924 296 8.38 11 Mitochondrion NA 0 PE1 -NX_Q6IBS0 39548 349 6.37 3 Perinuclear region;Stereocilium;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q6IBW4 68227 605 4.66 22 Nucleoplasm;Cytoskeleton;Nucleus;Chromosome NA 0 PE1 -NX_Q6IC83 27691 251 5.02 22 NA NA 0 PE2 -NX_Q6IC98 66408 578 8.98 22 Mitochondrion membrane NA 3 PE1 -NX_Q6ICB0 18263 168 4.86 22 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q6ICB4 28338 259 6.66 22 Recycling endosome;Clathrin-coated vesicle;trans-Golgi network;Early endosome NA 0 PE1 -NX_Q6ICC9 26154 239 11.18 22 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q6ICG6 45794 404 8.06 22 Mitochondrion;Nucleus membrane NA 0 PE1 -NX_Q6ICG8 31909 309 7.66 22 NA NA 0 PE1 -NX_Q6ICH7 41699 369 7.47 22 Membrane NA 1 PE1 -NX_Q6ICI0 21740 200 8.82 22 Membrane NA 4 PE2 -NX_Q6ICL3 30937 276 5.04 22 Golgi apparatus Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 0 PE1 -NX_Q6ICL7 36747 350 9.66 22 Cytosol;Membrane NA 8 PE1 -NX_Q6IE36 161251 1432 5.16 12 Secreted NA 0 PE2 -NX_Q6IE37 134499 1185 5.17 12 Secreted NA 0 PE2 -NX_Q6IE38 11057 97 9.17 5 Secreted NA 0 PE3 -NX_Q6IE81 95533 842 8.2 4 Mitochondrion;Cytoplasm;Nucleus;Cilium basal body NA 0 PE1 -NX_Q6IED9 27571 249 9.67 7 NA NA 0 PE5 -NX_Q6IEE7 107094 984 5.58 17 Membrane NA 1 PE1 -NX_Q6IEE8 67096 588 8.34 17 Membrane NA 1 PE2 -NX_Q6IEG0 39965 339 6.49 6 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q6IEU7 35592 315 8.56 11 Cell membrane NA 7 PE2 -NX_Q6IEV9 35003 310 9.11 11 Cell membrane NA 7 PE2 -NX_Q6IEY1 35074 312 9.04 5 Cell membrane NA 7 PE2 -NX_Q6IEZ7 35595 315 8.71 1 Cell membrane NA 7 PE2 -NX_Q6IF00 36228 324 9.03 1 Cell membrane NA 7 PE2 -NX_Q6IF36 33950 304 7.11 11 Cell membrane NA 7 PE5 -NX_Q6IF42 35820 318 8.74 7 Cell membrane NA 7 PE2 -NX_Q6IF63 34414 320 9.04 11 Cell membrane NA 7 PE2 -NX_Q6IF82 34760 309 8.77 11 Cell membrane NA 7 PE3 -NX_Q6IF99 35029 312 8.92 1 Cell membrane NA 7 PE3 -NX_Q6IFG1 35913 317 9.4 11 Cell membrane NA 7 PE2 -NX_Q6IFH4 35029 312 8.41 2 Cell membrane NA 7 PE2 -NX_Q6IFN5 38279 339 7.14 19 Cell membrane NA 7 PE2 -NX_Q6IMI4 34919 303 6.01 2 Cytoplasm NA 0 PE2 -NX_Q6IMI6 35889 304 6.43 2 Cytoplasm NA 0 PE1 -NX_Q6IMN6 125925 1127 6.28 12 Cytosol;Cytoplasm;Cell membrane;Nucleus;Mitochondrion;Centrosome NA 0 PE1 -NX_Q6IN84 38638 353 8.15 17 Mitochondrion NA 0 PE1 -NX_Q6IN85 95368 833 4.83 14 Nucleoplasm;Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q6IN97 35161 320 5.87 10 NA NA 0 PE5 -NX_Q6IPM2 77298 695 9.15 7 Mitochondrion;Cytoplasm;Cilium membrane;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q6IPR1 10864 90 9.92 12 Mitochondrion;Microtubule organizing center NA 0 PE1 -NX_Q6IPR3 29794 259 7.59 1 Cytosol;Cell membrane NA 0 PE1 -NX_Q6IPT2 27609 247 8.86 19 Nucleolus NA 0 PE1 -NX_Q6IPT4 35892 315 5.05 1 Nucleoplasm NA 0 PE2 -NX_Q6IPU0 33165 288 5.9 9 Centromere;Nucleolus;Nucleus NA 0 PE1 -NX_Q6IPW1 13249 123 11.73 11 Nucleoplasm NA 0 PE2 -NX_Q6IPX1 62187 549 9.24 17 Cell membrane NA 0 PE2 -NX_Q6IPX3 22298 200 5.15 X Nucleus NA 0 PE1 -NX_Q6IQ16 44647 392 6.99 2 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q6IQ19 30216 270 7.7 1 Centriole;Cell membrane;Cilium;Axon;Spindle;Nucleus;Cilium axoneme;Cytoskeleton;Centrosome;Cilium basal body NA 0 PE1 -NX_Q6IQ20 45596 393 5.71 7 Nucleoplasm;Cytosol;Early endosome membrane;Golgi apparatus membrane;Nucleus envelope NA 0 PE1 -NX_Q6IQ21 80007 691 9.64 15 Nucleus NA 0 PE1 -NX_Q6IQ22 27248 244 8.68 18 Cytoplasmic vesicle;Recycling endosome membrane;Lysosome membrane;Golgi apparatus membrane;Autophagosome NA 0 PE1 -NX_Q6IQ23 127135 1121 9.39 11 Cytosol;Cytoplasm;Centrosome;Nucleus;Adherens junction;Cell junction NA 0 PE1 -NX_Q6IQ26 147096 1287 6.21 11 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus Epileptic encephalopathy, early infantile, 49 0 PE1 -NX_Q6IQ32 122833 1131 9.3 18 Cytosol;Mitochondrion;Nucleus NA 0 PE1 -NX_Q6IQ49 49742 451 5.77 1 Cytosol;Nucleus speckle;Nucleus;Cell membrane;Golgi apparatus NA 0 PE1 -NX_Q6IQ55 137412 1244 6.54 15 Cytosol;Centriole;Nucleus;Cilium;Cilium basal body Spinocerebellar ataxia 11 0 PE1 -NX_Q6IS14 16773 154 4.85 10 Endoplasmic reticulum membrane;Cytoplasm;Nuclear pore complex;Nucleus NA 0 PE2 -NX_Q6IS24 67751 598 9.07 7 Golgi apparatus membrane;Nucleolus;Nucleus;Golgi apparatus NA 1 PE1 -NX_Q6ISB3 71105 625 6.06 8 Nucleoplasm;Nucleus;Membrane Corneal dystrophy, posterior polymorphous, 4;Deafness, autosomal dominant, 28;Ectodermal dysplasia/short stature syndrome 0 PE1 -NX_Q6ISS4 16280 152 5.13 19 Secreted NA 0 PE1 -NX_Q6ISU1 29266 281 6.58 6 Membrane NA 1 PE1 -NX_Q6IV72 87721 752 9.43 7 Cytoplasm;Nucleus NA 0 PE1 -NX_Q6IWH7 105532 933 8.11 2 Cytosol;Endoplasmic reticulum;Cell junction;Cell membrane NA 8 PE1 -NX_Q6J272 36165 317 7.68 9 NA NA 0 PE1 -NX_Q6J4K2 64231 584 8.32 12 Mitochondrion inner membrane NA 13 PE1 -NX_Q6J9G0 47577 422 7.1 12 Nucleus;Golgi apparatus;Cell membrane;Membrane NA 1 PE1 -NX_Q6JBY9 44504 416 5.34 1 Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q6JEL2 68942 608 5.47 17 Cytoplasm Spermatogenic failure 11 0 PE1 -NX_Q6JQN1 118834 1059 8.33 12 NA NA 0 PE1 -NX_Q6JVE5 21500 192 5.48 9 Secreted NA 0 PE2 -NX_Q6JVE6 20759 187 10.36 9 Secreted NA 0 PE1 -NX_Q6JVE9 19080 175 6.83 9 Secreted NA 0 PE2 -NX_Q6K0P9 55065 492 9.82 1 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q6KB66 50525 452 5.58 12 Cytoskeleton NA 0 PE1 -NX_Q6KC79 316051 2804 8.09 5 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Chromosome Cornelia de Lange syndrome 1 0 PE1 -NX_Q6KCM7 52663 469 8.54 9 Mitochondrion;Cytoplasmic vesicle;Mitochondrion inner membrane NA 6 PE1 -NX_Q6KF10 50662 455 9.1 8 Nucleoplasm;Cytoplasmic vesicle;Nucleus membrane;Secreted Multiple synostoses syndrome 4;Microphthalmia, isolated, 4;Klippel-Feil syndrome 1, autosomal dominant;Leber congenital amaurosis 17 0 PE1 -NX_Q6L8G4 14610 156 8.16 11 NA NA 0 PE1 -NX_Q6L8G5 17984 202 8.19 11 NA NA 0 PE2 -NX_Q6L8G8 15150 165 8.05 11 NA NA 0 PE2 -NX_Q6L8G9 11784 129 8.18 11 NA NA 0 PE1 -NX_Q6L8H1 25249 288 8.38 11 NA NA 0 PE1 -NX_Q6L8H2 22106 238 8.32 11 NA NA 0 PE1 -NX_Q6L8H4 24194 278 8.39 11 NA NA 0 PE2 -NX_Q6L8Q7 67352 609 6.11 3 Mitochondrion matrix NA 0 PE1 -NX_Q6L9T8 16688 149 6.27 1 NA NA 0 PE2 -NX_Q6L9W6 114975 998 7.07 12 Golgi stack membrane NA 1 PE1 -NX_Q6MZM0 131603 1159 6.27 11 Membrane NA 1 PE1 -NX_Q6MZM9 22720 219 4.82 4 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_Q6MZN7 14098 132 7.83 6 NA NA 0 PE2 -NX_Q6MZP7 79494 749 9.22 4 Cytosol;Nucleus NA 0 PE1 -NX_Q6MZQ0 40836 368 6.28 11 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q6MZT1 28962 257 8.79 5 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q6MZW2 93096 842 5.88 5 Mitochondrion;Secreted NA 0 PE1 -NX_Q6MZZ7 76696 669 7.01 2 Nucleoplasm NA 0 PE1 -NX_Q6N021 223811 2002 8.22 4 Nucleoplasm Myelodysplastic syndrome;Polycythemia vera 0 PE1 -NX_Q6N022 307957 2769 6.1 11 Nucleus;Cell projection;Cell membrane;Cytoplasm Tremor, hereditary essential 5 1 PE1 -NX_Q6N043 109285 979 8.51 15 Golgi apparatus;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Centrosome NA 0 PE1 -NX_Q6N063 38996 350 5.45 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6N069 101462 864 8.06 13 Cytosol NA 0 PE1 -NX_Q6N075 49765 450 7.96 12 Cell membrane;Golgi apparatus NA 12 PE1 -NX_Q6NS38 29322 261 9.68 12 Nucleus NA 0 PE1 -NX_Q6NSI1 35437 321 5.23 16 NA NA 0 PE5 -NX_Q6NSI3 42585 398 9.21 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6NSI4 97554 855 8.65 X Cytoskeleton;Chromosome NA 0 PE1 -NX_Q6NSI8 82007 718 6.5 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q6NSJ0 81087 714 8.6 9 Mitochondrion;Endoplasmic reticulum membrane;Nucleus membrane NA 1 PE1 -NX_Q6NSJ2 71912 640 6.16 19 Cytosol;Nucleus speckle;Cell membrane NA 0 PE1 -NX_Q6NSJ5 90247 796 6.52 19 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum NA 4 PE1 -NX_Q6NSW5 40514 357 6.09 X NA NA 0 PE5 -NX_Q6NSW7 34673 305 5.85 15 Nucleus NA 0 PE2 -NX_Q6NSX1 28767 233 5.7 13 Cell membrane;Secreted NA 0 PE1 -NX_Q6NSZ9 61474 544 7.82 7 Nucleolus;Nucleus NA 0 PE1 -NX_Q6NT04 63236 549 8.91 16 Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q6NT16 48869 456 5.15 6 Cytosol;Golgi apparatus;Membrane NA 12 PE1 -NX_Q6NT32 63926 575 5.98 16 Secreted NA 0 PE1 -NX_Q6NT46 12785 116 4.37 X NA NA 0 PE1 -NX_Q6NT52 17374 163 8.91 19 Secreted NA 0 PE2 -NX_Q6NT55 61958 531 8.95 19 Endoplasmic reticulum membrane;Microsome membrane Ichthyosis, congenital, autosomal recessive 5 0 PE1 -NX_Q6NT76 47278 420 5.72 8 Cajal body;PML body;Cytosol;Cytoplasm;Telomere;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6NT89 23482 227 11.43 1 Nucleus NA 0 PE2 -NX_Q6NTE8 37743 343 8.98 5 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q6NTF7 23532 200 8.84 22 Cytoplasm;P-body;Nucleus NA 0 PE1 -NX_Q6NTF9 39202 364 9.48 7 cis-Golgi network membrane;Golgi apparatus NA 5 PE1 -NX_Q6NUI1 23810 221 6.67 17 Nucleus;Cell membrane NA 0 PE5 -NX_Q6NUI2 87835 795 7.74 2 Mitochondrion;Mitochondrion outer membrane NA 2 PE1 -NX_Q6NUI6 82388 762 9.2 22 Secreted;Extracellular matrix NA 0 PE1 -NX_Q6NUJ1 56627 521 7.12 4 Cytosol;Secreted NA 0 PE1 -NX_Q6NUJ2 20623 197 9.85 11 Membrane NA 1 PE1 -NX_Q6NUJ5 63967 590 8.52 10 Nucleoplasm NA 0 PE1 -NX_Q6NUK1 53354 477 6 1 Mitochondrion;Mitochondrion inner membrane Fontaine progeroid syndrome 6 PE1 -NX_Q6NUK4 29264 255 9.57 10 Endoplasmic reticulum membrane NA 3 PE1 -NX_Q6NUM6 76946 668 5.86 7 NA NA 0 PE2 -NX_Q6NUM9 66820 610 8.54 2 Endoplasmic reticulum membrane;Nucleolus NA 0 PE1 -NX_Q6NUN0 64760 579 8.69 16 Mitochondrion matrix NA 0 PE1 -NX_Q6NUN7 88569 778 9.28 11 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q6NUN9 69136 644 6.41 7 Cytoplasm;Nucleus NA 0 PE1 -NX_Q6NUP7 99452 873 7.96 14 Cytosol;Cytoplasm NA 0 PE1 -NX_Q6NUQ1 90632 792 5.29 7 Endoplasmic reticulum membrane;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q6NUQ4 77151 689 9.28 2 Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum;Golgi apparatus NA 2 PE1 -NX_Q6NUR6 5133 42 5.4 7 NA NA 0 PE5 -NX_Q6NUS6 66157 607 8.6 10 Cytoskeleton;Endoplasmic reticulum;Membrane Joubert syndrome 18;Orofaciodigital syndrome 4 1 PE1 -NX_Q6NUS8 59151 523 8.2 5 Cytosol;Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q6NUT2 87374 758 9.24 12 Mitochondrion;Nucleus;Membrane Spermatogenic failure 9 11 PE1 -NX_Q6NUT3 52075 480 8.67 19 Mitochondrion;Nucleoplasm;Membrane NA 12 PE1 -NX_Q6NV74 102157 962 8.14 2 Cytoskeleton;Centrosome NA 0 PE1 -NX_Q6NV75 65361 609 7.9 1 Cell membrane NA 7 PE2 -NX_Q6NVH7 24311 229 5.09 19 Nucleus NA 0 PE1 -NX_Q6NVU6 15060 142 5.9 7 NA NA 0 PE1 -NX_Q6NVV0 3805 33 3.31 12 NA NA 0 PE5 -NX_Q6NVV1 12135 102 10.76 14 NA NA 0 PE5 -NX_Q6NVV3 44638 410 5.68 4 Golgi apparatus;Membrane NA 9 PE1 -NX_Q6NVV7 13877 123 8.34 22 Cytosol;Nucleus NA 0 PE1 -NX_Q6NVV9 47181 412 6.34 8 NA NA 0 PE5 -NX_Q6NVY1 43482 386 8.38 2 Mitochondrion;Nucleoplasm 3-hydroxyisobutryl-CoA hydrolase deficiency 0 PE1 -NX_Q6NW29 21251 188 5.24 4 Cytoskeleton NA 0 PE1 -NX_Q6NW34 64552 567 9.79 3 Nucleolus;Nucleus NA 0 PE1 -NX_Q6NW40 47547 437 5.92 5 Nucleoplasm;Membrane raft;Cell membrane NA 0 PE1 -NX_Q6NWY9 99358 871 6.39 12 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q6NX45 55068 483 8.72 15 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q6NX49 81742 715 8.15 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6NXE6 54142 501 5.83 19 Cytosol NA 0 PE1 -NX_Q6NXG1 75585 681 6.24 8 Nucleoplasm;Nucleus Deafness, autosomal recessive, 109 0 PE1 -NX_Q6NXN4 28036 242 9.85 7 Membrane NA 3 PE2 -NX_Q6NXP0 66551 572 9.51 3 NA NA 0 PE1 -NX_Q6NXP2 34516 309 6.15 7 Nucleoplasm NA 0 PE2 -NX_Q6NXP6 39880 359 6.2 14 NA NA 0 PE1 -NX_Q6NXR0 50288 463 5.22 19 NA NA 0 PE1 -NX_Q6NXR4 56915 508 6.63 8 Centrosome Mental retardation, autosomal recessive 39 0 PE1 -NX_Q6NXS1 23106 205 4.77 5 NA NA 0 PE1 -NX_Q6NXT1 32505 300 5.84 22 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus;Midbody NA 0 PE1 -NX_Q6NXT2 15214 135 11.11 12 Nucleus;Chromosome NA 0 PE1 -NX_Q6NXT4 51116 461 9.28 2 trans-Golgi network membrane;Golgi apparatus NA 6 PE1 -NX_Q6NXT6 64260 567 8.56 4 Cytoplasmic vesicle;Membrane;Centrosome;Cilium basal body Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 5 PE1 -NX_Q6NY19 88425 840 5.17 19 Cell membrane NA 0 PE1 -NX_Q6NYC1 46462 403 8.84 17 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q6NYC8 67943 613 5.38 6 Nucleoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q6NZ36 19869 180 6.9 1 Nucleoplasm;Nucleus;Cell junction;Chromosome NA 0 PE1 -NX_Q6NZ63 28815 245 8.82 7 Membrane NA 4 PE2 -NX_Q6NZ67 16226 158 10.16 2 Cytoplasm;Spindle;Centrosome NA 0 PE1 -NX_Q6NZI2 43476 390 5.51 17 Cytosol;Microsome;Cell membrane;Cytoplasmic vesicle;Mitochondrion;Nucleus;Endoplasmic reticulum;Caveola Congenital generalized lipodystrophy 4 0 PE1 -NX_Q6NZY4 78577 707 4.8 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6NZY7 15207 148 6.9 19 Cytoskeleton;Endomembrane system NA 0 PE1 -NX_Q6P047 33735 294 7.74 8 Nucleoplasm NA 0 PE1 -NX_Q6P050 27269 247 9.99 15 Cytosol;Nucleolus;Z line NA 0 PE1 -NX_Q6P087 38461 351 10.33 3 Mitochondrion matrix;Nucleus NA 0 PE1 -NX_Q6P093 46099 401 7.2 3 Secreted NA 0 PE2 -NX_Q6P0A1 25167 224 4.95 11 Membrane NA 1 PE1 -NX_Q6P0N0 129085 1132 9.31 14 Cytosol;Nucleus;Nucleolus;Centromere;Chromosome NA 0 PE1 -NX_Q6P0Q8 196436 1798 8.41 1 Cytosol;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q6P158 155604 1386 7.83 2 Cytosol;Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q6P161 15819 138 9.6 19 Mitochondrion NA 0 PE1 -NX_Q6P179 110462 960 6.25 5 Endoplasmic reticulum membrane;Golgi apparatus NA 1 PE1 -NX_Q6P1A2 56035 487 8.88 12 Endoplasmic reticulum membrane NA 9 PE1 -NX_Q6P1J6 163081 1458 5.57 2 Cytosol;Apical cell membrane NA 1 PE1 -NX_Q6P1J9 60577 531 9.63 1 Cytosol;Nucleus Hyperparathyroidism 1;Parathyroid carcinoma;Hyperparathyroidism 2 with jaw tumors 0 PE1 -NX_Q6P1K1 16419 146 9.66 12 Endosome membrane;Cytoplasmic vesicle;Lysosome membrane NA 4 PE1 -NX_Q6P1K2 23339 205 5.39 1 Nucleoplasm;Kinetochore;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q6P1K8 44452 395 6.13 5 Nucleus NA 0 PE1 -NX_Q6P1L5 61968 589 9.86 2 Nucleus;Centrosome NA 0 PE1 -NX_Q6P1L6 69220 599 9.19 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6P1L8 15948 145 10.26 6 Mitochondrion NA 0 PE1 -NX_Q6P1M0 72064 643 8.77 9 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Membrane Ichthyosis prematurity syndrome 2 PE1 -NX_Q6P1M3 113448 1020 7.22 17 Cytoplasmic vesicle;Cytosol;Cytoplasm NA 0 PE1 -NX_Q6P1M9 62346 558 8.85 X Cytosol;Nucleus speckle NA 0 PE1 -NX_Q6P1N0 104062 951 8.22 19 Nucleolus;Cytosol;Cytoplasm;Cell membrane;Nucleus;Centrosome Mental retardation, autosomal recessive 3 0 PE1 -NX_Q6P1N9 33602 297 6.51 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6P1Q0 41790 360 10.32 12 Mitochondrion;Nucleoplasm;Mitochondrion outer membrane NA 1 PE1 -NX_Q6P1Q9 43426 378 5.59 7 NA NA 0 PE1 -NX_Q6P1R3 61319 559 5.86 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6P1R4 53230 473 8.65 17 Cell membrane NA 0 PE1 -NX_Q6P1S2 33765 294 9.85 3 Nucleoplasm;Cytosol;Secreted;Membrane NA 1 PE1 -NX_Q6P1W5 65353 598 8.56 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q6P1X5 136971 1199 8.45 8 Nucleus Mental retardation, autosomal recessive 40 0 PE1 -NX_Q6P1X6 23889 216 9.36 8 Nucleus NA 0 PE1 -NX_Q6P280 65865 563 8.54 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6P2C0 77378 686 5.99 15 Cytoskeleton NA 0 PE1 -NX_Q6P2C8 35432 311 9.37 9 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q6P2D0 47516 407 8.85 16 Nucleus NA 0 PE1 -NX_Q6P2D8 89864 792 9.06 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q6P2E9 151661 1401 5.55 16 Cytosol;Nucleoplasm;P-body;Nucleus NA 0 PE1 -NX_Q6P2H3 85639 762 5.68 1 Nucleolus;Golgi apparatus;Cytosol;Spindle pole;Microtubule organizing center;Centrosome NA 0 PE1 -NX_Q6P2H8 31630 277 8.81 1 Focal adhesion;Golgi apparatus;Membrane NA 1 PE1 -NX_Q6P2I3 34613 314 7.64 2 NA NA 0 PE1 -NX_Q6P2I7 30450 272 9.2 3 Nucleoplasm;Nucleus NA 0 PE2 -NX_Q6P2M8 38500 343 6.28 X Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q6P2P2 94501 845 5.12 4 Cytosol;Nucleoplasm;Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q6P2Q9 273600 2335 8.95 17 Nucleoplasm;Nucleus speckle Retinitis pigmentosa 13 0 PE1 -NX_Q6P2S7 151684 1318 8.53 12 Cytoplasm NA 0 PE5 -NX_Q6P387 43418 395 8.79 16 Cytosol;Nucleoplasm NA 0 PE2 -NX_Q6P3R8 81445 708 9.05 13 NA NA 0 PE2 -NX_Q6P3S1 86552 775 5.54 1 Cytosol;Nucleus speckle;Clathrin-coated vesicle Asthma 0 PE1 -NX_Q6P3S6 77839 717 7.07 1 Nucleoplasm NA 0 PE1 -NX_Q6P3V2 87974 769 9.26 19 Nucleus NA 0 PE1 -NX_Q6P3W2 17139 149 4.53 11 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q6P3W6 96426 841 4.63 1 Cytoplasm NA 0 PE2 -NX_Q6P3W7 103709 929 8.45 12 Endosome membrane;Clathrin-coated vesicle;Perinuclear region;trans-Golgi network membrane NA 0 PE1 -NX_Q6P3X3 96632 843 5.42 2 Mitochondrion;Nucleolus NA 0 PE1 -NX_Q6P3X8 68011 592 8.82 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q6P435 17652 159 9.6 16 NA NA 0 PE5 -NX_Q6P444 43384 385 6.53 6 Mitochondrion;Cytoplasmic vesicle NA 0 PE1 -NX_Q6P461 53585 480 8.73 10 Mitochondrion NA 0 PE2 -NX_Q6P474 51810 469 5.65 16 NA NA 0 PE5 -NX_Q6P499 44742 406 8.1 1 Nucleoplasm;Membrane NA 9 PE1 -NX_Q6P4A7 37998 337 9.3 10 Cytoplasmic vesicle;Mitochondrion inner membrane Combined oxidative phosphorylation deficiency 18 5 PE1 -NX_Q6P4A8 63255 553 9.11 12 Lysosome NA 0 PE1 -NX_Q6P4D5 22522 195 9.92 X Nucleoplasm NA 0 PE1 -NX_Q6P4E1 48864 433 5.54 15 Golgi apparatus;Membrane NA 1 PE1 -NX_Q6P4F1 56094 479 8.62 8 Nucleoplasm;Golgi stack membrane;Golgi apparatus;Endoplasmic reticulum NA 1 PE1 -NX_Q6P4F2 19888 186 5.31 19 Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_Q6P4F7 113866 1023 9.19 15 Cytosol;Nucleolus NA 0 PE1 -NX_Q6P4H8 26110 233 9.04 5 Cytoplasmic vesicle;Cytoplasm;Nucleus;Mitochondrion membrane;Cell membrane NA 1 PE1 -NX_Q6P4I2 41685 378 5.46 15 Cytosol;Spindle;Spindle pole;Cleavage furrow Galloway-Mowat syndrome 1 0 PE1 -NX_Q6P4Q7 86607 775 5.75 2 Cytoskeleton;Cell membrane Jalili syndrome 3 PE1 -NX_Q6P4R8 139001 1299 9.29 11 Nucleus NA 0 PE1 -NX_Q6P531 50509 493 5.66 17 Membrane NA 1 PE1 -NX_Q6P575 29908 273 6.54 22 NA NA 0 PE5 -NX_Q6P582 16221 158 9.66 2 Cytoplasm;Spindle;Centrosome NA 0 PE1 -NX_Q6P587 24843 224 6.96 16 Mitochondrion;Cytosol;Nucleus NA 0 PE1 -NX_Q6P589 20556 184 8.54 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q6P597 55364 504 6.06 19 Nucleoplasm;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q6P5Q4 61675 547 5.63 7 Sarcomere;Cytoskeleton;M line;Myofibril NA 0 PE1 -NX_Q6P5R6 14607 122 9.37 3 NA NA 0 PE1 -NX_Q6P5S2 37926 330 5.78 6 Secreted NA 0 PE1 -NX_Q6P5S7 15420 137 9.21 17 Membrane NA 2 PE1 -NX_Q6P5W5 68408 647 5.27 8 Recycling endosome membrane;Cell membrane Acrodermatitis enteropathica, zinc-deficiency type 6 PE1 -NX_Q6P5X5 16805 142 8.22 22 Endoplasmic reticulum NA 0 PE1 -NX_Q6P5X7 32983 295 6.06 8 Mitochondrion;Membrane NA 2 PE2 -NX_Q6P5Z2 99421 889 8.77 9 Cytoplasmic vesicle;Perinuclear region;Nucleus NA 0 PE1 -NX_Q6P656 34294 301 5.84 15 NA NA 0 PE1 -NX_Q6P6B1 39936 374 4.46 8 Cytosol;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q6P6B7 39284 361 6.82 10 Cytoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q6P6C2 44256 394 9.19 17 Nucleoplasm;Nucleus speckle;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q6P7N7 28468 255 8.92 1 Cytoskeleton;Membrane NA 1 PE2 -NX_Q6P988 55699 496 7.52 17 Secreted NA 0 PE1 -NX_Q6P995 92181 826 8.79 2 Mitochondrion;Nucleus;Membrane NA 1 PE1 -NX_Q6P996 86707 788 5.25 16 NA NA 0 PE1 -NX_Q6P9A1 68837 599 9.01 19 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q6P9A2 69561 607 6.07 11 Mitochondrion;Golgi apparatus membrane NA 1 PE1 -NX_Q6P9A3 74439 640 8.88 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q6P9B6 50994 456 5.81 16 Cytosol;Cytoplasm;Nucleolus;Nucleus;Membrane NA 0 PE1 -NX_Q6P9B9 107995 1019 6.58 11 Cytoplasm;Nucleus;Nucleus membrane NA 3 PE1 -NX_Q6P9F0 77748 684 5.73 12 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q6P9F5 29336 258 7.54 6 NA NA 0 PE1 -NX_Q6P9F7 92390 803 6.4 1 Endoplasmic reticulum membrane;Nucleus speckle;Cell membrane NA 4 PE1 -NX_Q6P9G0 26689 228 5.37 17 Nucleolus;Golgi apparatus NA 0 PE1 -NX_Q6P9G4 20498 183 4.5 4 Nucleoplasm;Nucleus membrane;Membrane NA 1 PE1 -NX_Q6P9G9 59932 518 6.96 X Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q6P9H4 61904 555 8.94 6 Cytosol;Cytoplasm;Mitochondrion;Apical cell membrane NA 0 PE1 -NX_Q6P9H5 32949 292 4.86 7 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q6PB30 8697 78 10.94 X NA NA 0 PE2 -NX_Q6PCB0 46804 445 7.18 1 Basement membrane NA 0 PE1 -NX_Q6PCB5 94870 846 8.91 7 Nucleus speckle;Nucleus;Cell membrane NA 0 PE1 -NX_Q6PCB6 35831 329 5.42 15 Postsynaptic density;Recycling endosome membrane;Dendritic spine NA 0 PE1 -NX_Q6PCB7 71108 646 8.83 19 Cytosol;Mitochondrion;Endomembrane system;Cell membrane;Cytoplasm NA 1 PE1 -NX_Q6PCB8 36881 327 6.13 5 Synapse;Cell membrane NA 1 PE1 -NX_Q6PCD5 85094 774 6.02 16 Cytosol;Cytoplasm;Nucleus;PML body;Nucleoplasm Fanconi anemia, complementation group W 0 PE1 -NX_Q6PCE3 70442 622 6.81 11 Mitochondrion NA 0 PE1 -NX_Q6PCT2 75707 694 9.44 16 Cytoskeleton NA 0 PE1 -NX_Q6PD62 133502 1173 6.32 11 Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_Q6PD74 34594 315 4.5 15 Cytosol;Cytoplasm;Nucleus speckle Keratoderma, palmoplantar, punctate 1A 0 PE1 -NX_Q6PDA7 13842 123 10.54 8 Secreted NA 0 PE2 -NX_Q6PDB4 66762 577 9.45 19 NA NA 0 PE2 -NX_Q6PEV8 42801 388 4.95 X Cytosol;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q6PEW0 43832 395 6.22 16 Secreted NA 0 PE1 -NX_Q6PEW1 45369 402 5.87 X Nucleus NA 0 PE1 -NX_Q6PEX3 22554 210 8.03 21 NA NA 0 PE1 -NX_Q6PEX7 23280 206 5.84 1 Membrane NA 1 PE1 -NX_Q6PEY0 25860 223 8.91 6 Gap junction;Cell membrane NA 4 PE2 -NX_Q6PEY1 17251 159 10.11 17 Cell membrane NA 2 PE1 -NX_Q6PEY2 49859 450 5.01 2 Cytoskeleton NA 0 PE1 -NX_Q6PEZ8 56539 512 9.91 19 Extracellular matrix NA 0 PE1 -NX_Q6PF04 70143 617 9.17 19 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6PF05 40837 361 6.81 5 Spindle;Midbody;Centrosome NA 0 PE1 -NX_Q6PF06 36124 316 7.05 9 Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q6PF15 62892 583 8.08 11 Nucleolus;Nucleus;Centrosome NA 0 PE1 -NX_Q6PF18 27585 240 8.63 12 Nucleoplasm NA 0 PE1 -NX_Q6PFW1 159521 1433 5.26 15 Cytosol;Cell membrane NA 0 PE1 -NX_Q6PG37 74571 636 8.81 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q6PGN9 38796 363 11.21 1 Nucleoplasm;Cytoplasm;Spindle;Cytosol;Spindle pole NA 0 PE1 -NX_Q6PGP7 175486 1564 7.47 5 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Trichohepatoenteric syndrome 1 0 PE1 -NX_Q6PGQ1 25064 229 3.88 22 Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_Q6PGQ7 61203 559 4.8 13 Nucleolus;Nucleus NA 0 PE1 -NX_Q6PH81 17799 154 10.09 16 Nucleoplasm NA 0 PE1 -NX_Q6PH85 30179 259 5.7 13 Cytosol;Cell membrane NA 0 PE1 -NX_Q6PHR2 53444 472 6.91 15 Cytoplasm NA 0 PE1 -NX_Q6PHW0 33360 289 7.16 6 Cytoplasmic vesicle membrane;Cell membrane Thyroid dyshormonogenesis 4 1 PE1 -NX_Q6PI25 18931 160 6.87 11 Endoplasmic reticulum membrane;Dendrite;Postsynaptic cell membrane;Dendritic spine;Postsynaptic density NA 3 PE1 -NX_Q6PI26 65125 577 4.7 3 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q6PI47 46739 426 9.23 2 Mitochondrion NA 0 PE1 -NX_Q6PI48 73563 645 8.19 1 Mitochondrion matrix;Mitochondrion;Nucleus Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 0 PE1 -NX_Q6PI73 52399 481 7.67 19 Membrane NA 1 PE1 -NX_Q6PI77 60291 547 7.51 X Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q6PI78 25498 240 8.9 8 Nucleoplasm;Mitochondrion inner membrane;Cell membrane NA 3 PE1 -NX_Q6PI97 19340 169 8.9 11 NA NA 0 PE1 -NX_Q6PI98 20643 192 10.03 18 Nucleolus;Nucleus NA 0 PE1 -NX_Q6PID6 29411 262 5.32 5 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q6PID8 49098 442 9.47 7 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q6PIF2 24690 218 5.57 19 Nucleus NA 0 PE1 -NX_Q6PIF6 241599 2116 8.82 2 Microvillus;Cytoskeleton NA 0 PE1 -NX_Q6PII3 53958 467 6.04 3 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Hypotonia, infantile, with psychomotor retardation 0 PE1 -NX_Q6PII5 31557 290 8.57 16 NA NA 0 PE1 -NX_Q6PIJ6 133944 1188 5.92 5 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Cytoskeleton Neuronopathy, distal hereditary motor, 2D 0 PE1 -NX_Q6PIL6 28729 250 5.12 4 Cytoplasm;Cell membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q6PIS1 64531 610 7.24 2 Nucleus;Cell junction;Membrane NA 12 PE2 -NX_Q6PIU1 56304 500 5.75 8 Cell membrane NA 6 PE1 -NX_Q6PIU2 45808 408 6.76 3 Microsome;Endoplasmic reticulum;Membrane NA 1 PE1 -NX_Q6PIV2 33310 292 9.3 11 Nucleus NA 0 PE1 -NX_Q6PIV7 32224 304 9.28 1 Mitochondrion;Mitochondrion inner membrane NA 6 PE2 -NX_Q6PIW4 74077 674 8.07 7 Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 -NX_Q6PIY5 48855 440 5.56 1 Cytosol NA 0 PE1 -NX_Q6PIY7 56028 484 9.45 5 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q6PIZ9 21211 186 5.23 3 Cell membrane NA 1 PE1 -NX_Q6PJ21 39376 355 8.74 16 Mitochondrion NA 0 PE1 -NX_Q6PJ61 64631 603 7.19 19 Cytosol;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q6PJ69 57353 517 6.26 17 Cytosol;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q6PJE2 20620 187 6.81 7 NA NA 0 PE2 -NX_Q6PJF5 96686 856 9.1 17 Endoplasmic reticulum membrane;Cell membrane Tylosis with esophageal cancer 7 PE1 -NX_Q6PJG2 114989 1045 9.26 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6PJG6 88119 821 5.11 7 Nucleoplasm;Cytoplasm;Nucleus Rigidity and multifocal seizure syndrome, lethal neonatal 0 PE1 -NX_Q6PJG9 66860 635 6.44 11 Membrane NA 1 PE1 -NX_Q6PJI9 109793 974 8.2 16 Cytosol;Lysosome membrane NA 0 PE1 -NX_Q6PJP8 116400 1040 8.24 10 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q6PJQ5 35924 311 4.92 X Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6PJT7 82876 736 6.99 14 Nucleus speckle;Cytoplasm Mental retardation, autosomal recessive 56 0 PE1 -NX_Q6PJW8 79597 725 4.4 1 Cytoplasmic vesicle;Secretory vesicle;trans-Golgi network membrane;Cell membrane NA 1 PE1 -NX_Q6PK04 33231 289 10.94 17 Nucleolus;Chromosome NA 0 PE1 -NX_Q6PK18 35646 319 8.3 17 Nucleoplasm;Membrane NA 1 PE1 -NX_Q6PK57 11596 102 4.82 15 NA NA 0 PE5 -NX_Q6PK81 50502 442 9.18 19 Nucleus NA 0 PE1 -NX_Q6PKC3 110529 985 6.11 16 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 -NX_Q6PKG0 123510 1096 8.91 5 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Cytoplasmic granule NA 0 PE1 -NX_Q6PKH6 24586 230 10.13 14 Secreted NA 0 PE2 -NX_Q6PKX4 38318 331 8.72 18 Cytosol;Focal adhesion NA 0 PE1 -NX_Q6PL18 158554 1390 5.94 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6PL24 35740 325 4.61 14 NA NA 0 PE1 -NX_Q6PL45 28486 260 6.98 16 Nucleoplasm;Cytoskeleton;Membrane NA 2 PE1 -NX_Q6PML9 63515 568 8.6 4 Cytoplasmic vesicle;Cytoplasm;Nucleus;Endoplasmic reticulum;Membrane Birk-Landau-Perez syndrome 5 PE1 -NX_Q6PP77 52052 449 8.46 X Cell membrane NA 10 PE2 -NX_Q6PRD1 257363 2367 5.54 17 Cell membrane Night blindness, congenital stationary, 1E 7 PE1 -NX_Q6PRD7 25959 247 9.73 16 Cytoplasm;Nucleus NA 0 PE1 -NX_Q6PUV4 15394 134 5.06 5 Cytosol NA 0 PE1 -NX_Q6PXP3 55728 512 8.68 1 Membrane NA 12 PE2 -NX_Q6Q0C0 74609 670 6.77 16 Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q6Q0C1 33435 308 9.39 14 Mitochondrion inner membrane NA 6 PE2 -NX_Q6Q4G3 113283 990 5.42 5 Membrane NA 1 PE1 -NX_Q6Q6R5 24088 217 8.98 6 Cytoplasm;Nucleus speckle NA 0 PE2 -NX_Q6Q759 251742 2223 5.88 1 Cytoplasm;Flagellum axoneme NA 0 PE1 -NX_Q6Q788 41213 366 5.98 11 Secreted Hyperlipoproteinemia 5;Hypertriglyceridemia, familial 0 PE1 -NX_Q6Q795 13358 121 8.84 3 NA NA 0 PE5 -NX_Q6Q8B3 29920 271 9.31 3 Membrane NA 1 PE2 -NX_Q6QAJ8 17754 160 6.95 17 Nucleoplasm;Membrane NA 5 PE2 -NX_Q6QEF8 52762 472 5.63 17 Golgi apparatus NA 0 PE1 -NX_Q6QHC5 37197 323 9.38 14 Endoplasmic reticulum membrane;Nucleolus;Nucleus NA 3 PE1 -NX_Q6QHF9 70290 649 5.34 10 Nucleoplasm;Cytoplasm;Centrosome;Peroxisome NA 0 PE1 -NX_Q6QHK4 24123 219 7.76 2 Nucleus Premature ovarian failure 6 0 PE1 -NX_Q6QN14 44690 398 6.86 4 Cytoplasm;Nucleus NA 0 PE1 -NX_Q6QNK2 96530 874 8.02 12 Cytosol;Nucleus;Cell membrane NA 7 PE1 -NX_Q6QNY0 21256 202 5.08 19 Cytoplasm;Golgi apparatus Hermansky-Pudlak syndrome 8 0 PE1 -NX_Q6QNY1 15961 142 4.78 10 Lysosome membrane;Centrosome NA 0 PE1 -NX_Q6R2W3 151666 1325 6.29 6 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q6R327 192218 1708 7.22 5 Mitochondrion NA 0 PE1 -NX_Q6R6M4 59619 530 8.5 8 Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q6RFH5 42441 385 8.64 11 Nucleolus;Nucleus NA 0 PE1 -NX_Q6RFH8 39442 374 11.11 4 Nucleus NA 0 PE1 -NX_Q6RI45 203598 1802 8.02 X Cytosol;Nucleoplasm Mental retardation, X-linked 93 0 PE1 -NX_Q6RSH7 15781 139 6.41 1 NA NA 0 PE1 -NX_Q6RUI8 13085 117 8.49 19 Cell membrane NA 0 PE2 -NX_Q6RVD6 11727 105 10.09 15 NA NA 0 PE1 -NX_Q6RW13 17419 159 5.71 1 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Golgi apparatus membrane NA 3 PE1 -NX_Q6S545 60965 545 7 22 NA NA 0 PE1 -NX_Q6S5H5 57096 508 6.66 14 NA NA 0 PE2 -NX_Q6S5L8 68785 630 8.03 15 Cytosol;Postsynaptic cell membrane NA 0 PE1 -NX_Q6S8J3 121363 1075 5.83 2 NA NA 0 PE1 -NX_Q6S8J7 56166 498 6.01 8 NA NA 0 PE2 -NX_Q6S9Z5 40315 364 9.59 5 NA NA 0 PE2 -NX_Q6SA08 37454 328 8.78 14 Flagellum;Cell junction;Acrosome NA 0 PE1 -NX_Q6SJ93 84674 734 8.83 11 Cytosol;Nucleus Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 0 PE1 -NX_Q6SJ96 41524 375 6.05 14 Cytoplasm;Nucleus NA 0 PE1 -NX_Q6SPF0 56052 538 7.13 19 Cytosol;Cytoplasm;Mitochondrion;Secreted NA 0 PE1 -NX_Q6STE5 55016 483 9.38 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6SZW1 79388 724 6.14 17 Cytoplasmic vesicle;Synapse;Cytoplasm;Axon;Dendrite;Mitochondrion NA 0 PE1 -NX_Q6T310 27006 242 9.05 13 Nucleolus;Nucleus NA 0 PE1 -NX_Q6T311 20755 187 6.04 4 Mitochondrion;Nucleolus NA 0 PE1 -NX_Q6T423 61008 547 7.53 11 Membrane NA 12 PE2 -NX_Q6T4P5 76037 718 5.66 19 Cytosol;Nucleoplasm;Golgi apparatus;Membrane NA 6 PE1 -NX_Q6T4R5 179135 1651 6.4 X Apical cell membrane;Cytoplasm;Focal adhesion;Lamellipodium;Cell junction;Tight junction Cataract 40;Nance-Horan syndrome 0 PE1 -NX_Q6TCH4 37989 344 8.22 1 Nucleolus;Nucleus;Cell membrane NA 7 PE1 -NX_Q6TCH7 36217 311 8.84 4 Golgi apparatus membrane NA 7 PE1 -NX_Q6TDP4 69874 642 7.64 1 Nucleoplasm;Postsynaptic density;Synapse;Nucleus NA 0 PE1 -NX_Q6TDU7 83160 716 5.22 12 NA NA 0 PE1 -NX_Q6TFL3 152810 1326 6.37 9 Nucleus NA 0 PE1 -NX_Q6TFL4 68361 600 5.98 3 Axon;Cytoplasm;Desmosome;Perikaryon;Adherens junction Epidermolysis bullosa simplex, generalized, with scarring and hair loss 0 PE1 -NX_Q6TGC4 77727 694 5.13 1 Cytoplasm;Nucleus Preimplantation embryonic lethality 2 0 PE1 -NX_Q6U736 39727 354 9.11 6 Membrane NA 7 PE1 -NX_Q6U7Q0 46941 402 8.98 6 Cytosol;Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q6U841 125946 1118 6.05 2 Cell membrane NA 12 PE1 -NX_Q6U949 18035 168 12.13 11 NA NA 0 PE2 -NX_Q6UB28 37088 335 6.35 2 Cytoplasmic vesicle;Mitochondrion NA 0 PE1 -NX_Q6UB35 105790 978 8.32 6 Mitochondrion NA 0 PE1 -NX_Q6UB98 235652 2062 6.57 18 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6UB99 297913 2663 6.7 16 Nucleoplasm;Cytosol;Nucleus KBG syndrome 0 PE1 -NX_Q6UDR6 11421 99 9.4 20 Secreted NA 0 PE2 -NX_Q6UE05 29433 265 7.67 7 Cytoplasmic vesicle;Membrane NA 3 PE1 -NX_Q6ULP2 102113 936 4.4 2 Cytoplasmic vesicle;Cytoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q6UN15 66526 594 5.42 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6UQ28 23385 207 5.01 11 Apical cell membrane NA 0 PE2 -NX_Q6URK8 30717 271 9.09 16 Secreted NA 0 PE1 -NX_Q6UUV7 66959 619 6.35 15 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q6UUV9 67300 634 5.65 19 Cytosol;Nucleoplasm;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q6UVJ0 74397 657 7.26 1 Centriole;Cytosol;Centrosome;Microtubule organizing center Microcephaly 14, primary, autosomal recessive 0 PE1 -NX_Q6UVK1 250537 2322 5.27 15 Cell surface;Apical cell membrane;Nucleus;Lamellipodium membrane;Cell membrane NA 1 PE1 -NX_Q6UVM3 130501 1135 6.97 1 Cytoplasmic vesicle;Cell membrane Epileptic encephalopathy, early infantile, 57 6 PE1 -NX_Q6UVW9 19972 174 8.75 12 Cell membrane NA 1 PE1 -NX_Q6UVY6 69652 613 5.97 6 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q6UW01 21521 205 6.58 14 Synapse;Nucleus;cis-Golgi network;Endoplasmic reticulum;Secreted NA 0 PE1 -NX_Q6UW02 52432 462 5.84 2 Cytoskeleton;Cell junction;Cell membrane;Membrane NA 1 PE1 -NX_Q6UW10 8396 78 7.01 6 Secretory vesicle;Golgi apparatus;Secreted NA 0 PE1 -NX_Q6UW15 19330 175 6.7 2 Cytoplasm;Secreted NA 0 PE1 -NX_Q6UW32 12363 110 8.22 19 Secreted NA 0 PE1 -NX_Q6UW49 38931 350 5.53 15 Acrosome NA 0 PE1 -NX_Q6UW56 24747 229 6.95 2 Nucleus envelope;Cell membrane NA 1 PE1 -NX_Q6UW60 82795 755 8.67 19 Acrosome membrane;Membrane NA 1 PE1 -NX_Q6UW63 58043 502 7.59 13 Endoplasmic reticulum lumen;Nucleus NA 0 PE1 -NX_Q6UW68 21198 189 8.91 19 Nucleoplasm;Nucleus membrane;Endoplasmic reticulum;Membrane NA 4 PE1 -NX_Q6UW78 10081 93 9.39 11 Cytosol;Mitochondrion;Mitochondrion inner membrane;Nucleoplasm Mitochondrial complex III deficiency, nuclear 9 1 PE1 -NX_Q6UW88 17091 154 6.5 4 Cytosol;Secreted;Nucleus;Nucleus membrane;Membrane NA 1 PE1 -NX_Q6UWB1 69474 636 5.48 19 Membrane NA 1 PE1 -NX_Q6UWB4 38856 352 7.49 8 Cytosol;Membrane NA 1 PE1 -NX_Q6UWD8 24360 224 5.97 16 Membrane NA 1 PE1 -NX_Q6UWE0 83594 723 5.7 9 Cytosol;Cytoplasm Charcot-Marie-Tooth disease 2P 0 PE1 -NX_Q6UWE3 10812 100 8.85 6 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q6UWF3 16618 145 5.21 17 Membrane NA 1 PE1 -NX_Q6UWF5 12886 114 6.56 6 Membrane NA 2 PE4 -NX_Q6UWF7 62263 544 9.03 11 Secreted NA 0 PE1 -NX_Q6UWF9 19733 173 8.59 7 Secreted NA 0 PE1 -NX_Q6UWH4 57552 519 9.75 4 Nucleoplasm;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q6UWH6 22538 196 6.56 2 Cytosol;Nucleoplasm;Membrane NA 5 PE1 -NX_Q6UWI2 32289 310 4.59 4 Cytoplasmic vesicle;Endosome;Cytosol;Cell membrane;Endosome membrane;Nucleus;Golgi apparatus membrane NA 1 PE1 -NX_Q6UWI4 31375 295 7.89 13 Endoplasmic reticulum membrane;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 1 PE1 -NX_Q6UWJ1 75598 677 6.47 13 Cytosol;Membrane NA 10 PE1 -NX_Q6UWJ8 18403 174 6.63 1 Cytosol;Cell membrane;Membrane NA 1 PE1 -NX_Q6UWK7 9173 81 10.54 10 Secreted NA 0 PE1 -NX_Q6UWL2 82710 747 6.02 9 Nucleoplasm;Membrane NA 1 PE1 -NX_Q6UWL6 75092 708 6.48 19 Cytoplasm;Nucleus;Cell membrane;Microtubule organizing center NA 1 PE1 -NX_Q6UWM5 27151 242 8.57 12 Membrane raft;Cell membrane;Acrosome NA 0 PE1 -NX_Q6UWM7 65088 567 8.17 15 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q6UWM9 60254 527 8.15 4 Membrane NA 1 PE1 -NX_Q6UWN0 26763 246 8.76 19 Cell membrane NA 0 PE1 -NX_Q6UWN5 26936 251 6.98 19 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q6UWN8 8585 80 8.74 5 Secreted NA 0 PE1 -NX_Q6UWP2 28308 260 6.17 17 Cytosol;Golgi apparatus;Secreted NA 0 PE1 -NX_Q6UWP7 48920 414 8.83 2 Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum NA 4 PE1 -NX_Q6UWP8 60541 590 6.5 19 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q6UWQ5 16654 148 8.35 10 Secreted NA 0 PE2 -NX_Q6UWQ7 13248 119 7.4 19 Nucleoplasm;Cell membrane;Secreted NA 0 PE2 -NX_Q6UWR7 50241 440 8.07 4 Cell membrane;Golgi apparatus NA 0 PE1 -NX_Q6UWS5 9223 81 10.1 20 Mitochondrion NA 0 PE1 -NX_Q6UWT2 7927 76 5.38 9 Secreted NA 0 PE2 -NX_Q6UWT4 9693 87 4.67 5 Mitochondrion;Nucleus speckle;Secreted NA 0 PE1 -NX_Q6UWU2 74158 654 9.01 2 Secreted NA 0 PE1 -NX_Q6UWU4 39870 347 6.36 6 Cytoplasm;Nucleolus;Golgi apparatus membrane;Midbody NA 1 PE1 -NX_Q6UWV2 25989 235 8.12 11 Golgi apparatus;Membrane NA 1 PE1 -NX_Q6UWV6 51494 458 6.39 17 Cell membrane NA 1 PE1 -NX_Q6UWV7 20306 190 4.94 1 Membrane NA 2 PE2 -NX_Q6UWW0 20454 184 4.8 9 Secreted NA 0 PE1 -NX_Q6UWW8 62282 571 5.41 16 Endoplasmic reticulum lumen;Endoplasmic reticulum;Nucleus membrane NA 0 PE1 -NX_Q6UWW9 16116 146 4.95 3 Membrane NA 1 PE1 -NX_Q6UWX4 80779 724 9.21 1 Mitochondrion;Cytosol;Secreted NA 0 PE1 -NX_Q6UWY0 61450 536 9.02 5 Cytoplasmic vesicle;Nucleus;Secreted NA 0 PE1 -NX_Q6UWY2 30334 283 9.56 19 Cytoplasmic granule lumen;Secreted NA 0 PE1 -NX_Q6UWY5 45951 402 8.29 11 Secreted NA 0 PE1 -NX_Q6UWZ7 46663 409 6.58 4 Nucleus Breast cancer 0 PE1 -NX_Q6UX01 55209 489 8.39 12 Cell membrane NA 9 PE1 -NX_Q6UX04 53847 472 5.6 5 Nucleoplasm;Nucleus Retinitis pigmentosa with or without skeletal anomalies 0 PE1 -NX_Q6UX06 57280 510 5.5 13 Mitochondrion;Extracellular space NA 0 PE1 -NX_Q6UX07 40849 377 7.63 17 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q6UX15 43108 382 4.85 11 Cytosol;Membrane NA 1 PE1 -NX_Q6UX27 26109 236 4.98 19 Cytoplasmic vesicle;Membrane;Secreted NA 1 PE1 -NX_Q6UX34 12073 121 4.11 2 Cytoplasm;Extracellular matrix;Nucleus;Nucleolus;Membrane NA 1 PE2 -NX_Q6UX39 21588 209 5.29 4 Secreted Amelogenesis imperfecta 3B 0 PE1 -NX_Q6UX40 15503 140 6.05 17 Nucleoplasm;Midbody ring;Midbody;Cytosol;Membrane;Cilium Orofaciodigital syndrome 16;Meckel syndrome 13 4 PE1 -NX_Q6UX41 56748 500 8.38 5 Membrane NA 1 PE1 -NX_Q6UX46 16915 152 9.75 2 Secreted NA 0 PE1 -NX_Q6UX52 29091 265 8.93 17 Secreted NA 0 PE1 -NX_Q6UX53 27775 244 8.71 12 Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 -NX_Q6UX65 29766 266 8.2 1 Photoreceptor inner segment;Cytoplasmic vesicle;Lysosome membrane;Apical cell membrane;Golgi apparatus Cone-rod dystrophy 21 6 PE1 -NX_Q6UX68 75014 686 6.21 8 Membrane NA 5 PE1 -NX_Q6UX71 59583 529 5.99 10 Nucleus;Membrane NA 1 PE1 -NX_Q6UX72 43751 402 9.33 16 Nucleolus;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q6UX73 45391 402 5.82 16 Secreted NA 0 PE1 -NX_Q6UX82 25265 237 5.48 1 Cell membrane;Secreted NA 0 PE1 -NX_Q6UX98 30176 284 9.01 11 Cytoplasmic vesicle;Cytosol;Membrane NA 5 PE1 -NX_Q6UXA7 34195 325 7.88 6 Extracellular matrix NA 0 PE1 -NX_Q6UXB0 36108 335 4.49 3 Nucleolus;Nucleus;Secreted NA 0 PE2 -NX_Q6UXB1 14198 125 8.97 19 Secreted NA 0 PE1 -NX_Q6UXB2 13819 119 10.97 19 Secreted NA 0 PE1 -NX_Q6UXB3 13115 125 5.69 8 Cell membrane NA 0 PE2 -NX_Q6UXB4 32562 293 6.15 19 Cell membrane NA 1 PE1 -NX_Q6UXB8 49471 463 5.24 6 Secreted NA 0 PE1 -NX_Q6UXC1 131499 1216 5.66 9 Cytosol;Nucleoplasm;Membrane NA 1 PE1 -NX_Q6UXD1 13183 115 12.13 9 Nucleoplasm;Membrane NA 1 PE2 -NX_Q6UXD5 97560 910 4.8 16 Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 -NX_Q6UXD7 58427 560 6.45 4 Membrane NA 12 PE1 -NX_Q6UXE8 52251 466 5.84 5 Membrane NA 1 PE1 -NX_Q6UXF1 59948 575 9.62 3 Axon;Endosome membrane;Nucleolus;Cytosol;Early endosome;Cell membrane;Cytoplasmic vesicle;Dendrite;Membrane;Postsynaptic density NA 2 PE1 -NX_Q6UXF7 50490 455 8.39 16 Endosome;Endoplasmic reticulum;Golgi apparatus;Secreted NA 0 PE2 -NX_Q6UXG2 111382 1013 6.13 1 Lysosome membrane;Late endosome membrane;trans-Golgi network membrane;Cell membrane NA 1 PE1 -NX_Q6UXG3 36060 332 5.68 17 Apical cell membrane;Basolateral cell membrane;Multivesicular body membrane NA 1 PE1 -NX_Q6UXG8 59716 535 6 5 Cytoplasmic vesicle;Nucleus membrane;Membrane NA 1 PE1 -NX_Q6UXH0 22105 198 7.08 19 Nucleoplasm;Golgi apparatus;Secreted Diabetes mellitus, insulin-dependent;Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_Q6UXH1 38192 353 4.5 22 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_Q6UXH8 44103 406 7.74 18 Cytosol;Cell membrane;Secreted Hennekam lymphangiectasia-lymphedema syndrome 1 0 PE1 -NX_Q6UXH9 80199 720 7.57 11 Secreted NA 0 PE1 -NX_Q6UXI7 73930 678 9.29 2 Extracellular matrix NA 0 PE1 -NX_Q6UXI9 61907 565 8.74 4 Cytosol;Nucleus;Cell junction;Extracellular matrix NA 0 PE1 -NX_Q6UXK2 78990 745 5.17 15 Cell membrane NA 1 PE1 -NX_Q6UXK5 80716 716 5.77 3 Membrane NA 1 PE1 -NX_Q6UXL0 35076 311 4.98 3 Cytosol;Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q6UXM1 123434 1119 5.79 12 Cytosol;Cytoplasmic vesicle membrane;Cell membrane NA 1 PE1 -NX_Q6UXN2 21924 200 8.87 6 Secreted NA 0 PE2 -NX_Q6UXN7 17700 152 8.87 14 Mitochondrion outer membrane NA 1 PE1 -NX_Q6UXN8 27324 241 6.42 12 Membrane NA 1 PE1 -NX_Q6UXN9 35079 313 7.59 3 Nucleolus;Nucleus NA 0 PE1 -NX_Q6UXP3 13608 125 8.46 3 Membrane NA 2 PE5 -NX_Q6UXP7 31367 276 5.6 5 Cytosol NA 0 PE1 -NX_Q6UXP9 19777 181 9.67 15 NA NA 0 PE5 -NX_Q6UXQ4 13321 117 9.57 2 Secreted NA 0 PE3 -NX_Q6UXQ8 13410 127 11.87 15 Secreted NA 0 PE5 -NX_Q6UXR4 34864 307 5.95 14 Secreted NA 0 PE5 -NX_Q6UXR6 19530 183 6.19 9 Secreted NA 0 PE5 -NX_Q6UXR8 12794 122 7.65 19 NA NA 0 PE5 -NX_Q6UXS0 15448 136 6.17 16 Secreted NA 0 PE2 -NX_Q6UXS9 38907 341 5.63 11 NA NA 0 PE1 -NX_Q6UXT8 14269 129 10.6 8 Secreted NA 0 PE1 -NX_Q6UXT9 51771 468 7.57 17 Cytosol;Nucleoplasm;Secreted NA 0 PE1 -NX_Q6UXU0 14541 137 10.84 19 Secreted NA 0 PE2 -NX_Q6UXU4 36774 331 6.59 16 Synapse;Cell membrane NA 4 PE1 -NX_Q6UXU6 17229 159 5.48 17 Nucleoplasm;Membrane NA 1 PE1 -NX_Q6UXV0 44518 394 8.28 6 Cell membrane NA 1 PE1 -NX_Q6UXV1 24856 221 9.07 19 Membrane NA 1 PE1 -NX_Q6UXV3 16883 157 5.18 22 Secreted NA 0 PE2 -NX_Q6UXV4 29159 268 9.55 X Mitochondrion;Mitochondrion inner membrane NA 2 PE1 -NX_Q6UXX5 143187 1313 9.1 X Secreted NA 0 PE1 -NX_Q6UXX9 28315 243 9.42 8 Secreted Humerofemoral hypoplasia with radiotibial ray deficiency;Tetraamelia syndrome 2 0 PE1 -NX_Q6UXY1 58987 529 9.53 22 Cytoplasmic vesicle membrane;Cell junction;Cell membrane NA 0 PE1 -NX_Q6UXY8 114797 1006 8.46 16 Nucleus;Cell membrane;Membrane NA 10 PE1 -NX_Q6UXZ0 29185 262 8.07 17 Mitochondrion;Cytoplasm;Cell membrane NA 1 PE1 -NX_Q6UXZ3 21558 194 9.12 17 Cell membrane NA 1 PE1 -NX_Q6UXZ4 105880 953 5.71 8 Cell membrane NA 1 PE1 -NX_Q6UY01 61489 552 5.71 3 NA NA 0 PE1 -NX_Q6UY09 65808 596 5.49 19 Microvillus membrane;Apical cell membrane NA 1 PE2 -NX_Q6UY11 40548 383 6.09 6 Nucleus;Membrane NA 1 PE1 -NX_Q6UY13 10734 95 9.78 2 Secreted NA 0 PE3 -NX_Q6UY14 116545 1074 8.79 1 Cytosol;Cell membrane;Extracellular matrix Ectopia lentis 2, isolated, autosomal recessive;Ectopia lentis et pupillae 0 PE1 -NX_Q6UY18 63774 593 8.53 1 Membrane NA 1 PE2 -NX_Q6UY27 13015 113 6.91 11 Secreted NA 0 PE1 -NX_Q6UYE1 23924 221 7.77 13 NA NA 0 PE2 -NX_Q6V0I7 542687 4981 4.77 4 Cytosol;Membrane Hennekam lymphangiectasia-lymphedema syndrome 2;Van Maldergem syndrome 2 1 PE1 -NX_Q6V0L0 57111 522 9.24 10 Membrane Focal facial dermal dysplasia 4 1 PE1 -NX_Q6V1P9 322234 2916 4.63 4 Cytoplasmic vesicle;Cell membrane;Membrane NA 1 PE1 -NX_Q6V1X1 103358 898 5.52 15 Cytosol;Cytoplasm NA 0 PE1 -NX_Q6V702 26869 233 5.28 4 Cytosol;Cell membrane NA 0 PE1 -NX_Q6V9R5 48563 426 8.76 19 Nucleus NA 0 PE1 -NX_Q6VAB6 107632 950 8.95 12 Cytoplasm;Membrane NA 0 PE1 -NX_Q6VB84 45820 417 9.82 9 Nucleus NA 0 PE2 -NX_Q6VEQ5 50312 465 5.53 2 Centriole;Recycling endosome membrane;Early endosome membrane;Late endosome;Autophagosome NA 0 PE2 -NX_Q6VMQ6 136394 1270 4.58 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6VN20 67257 620 6.29 16 Cytosol;Nucleus NA 0 PE1 -NX_Q6VUC0 46212 442 8.64 1 Nucleus NA 0 PE2 -NX_Q6VVB1 42293 395 6.99 6 Cytoplasmic vesicle;Nucleus;Endoplasmic reticulum Epilepsy, progressive myoclonic 2 0 PE1 -NX_Q6VVX0 57359 501 7.25 11 Endoplasmic reticulum membrane;Microsome membrane Rickets vitamin D-dependent 1B 0 PE1 -NX_Q6VY07 104898 963 7.6 11 Cytosol;Cytoskeleton;trans-Golgi network Schuurs-Hoeijmakers syndrome 0 PE1 -NX_Q6W0C5 17851 159 8.86 12 Cytoplasm;Nucleus NA 0 PE1 -NX_Q6W2J9 192189 1755 6.06 X Nucleus Microphthalmia, syndromic, 2 0 PE1 -NX_Q6W349 10157 94 5.34 4 NA NA 0 PE5 -NX_Q6W3E5 71996 623 9.16 11 Membrane NA 6 PE2 -NX_Q6W4X9 257051 2439 7.22 11 Secreted NA 0 PE1 -NX_Q6W5P4 42687 371 8.63 7 Cytoplasm;Cell membrane Asthma-related traits 2 7 PE1 -NX_Q6WBX8 47832 426 6.47 12 NA NA 0 PE1 -NX_Q6WCQ1 116533 1025 5.89 17 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q6WKZ4 137167 1283 5.3 8 Cytoplasmic vesicle;Phagosome membrane;Recycling endosome NA 0 PE1 -NX_Q6WN34 47495 429 8.23 11 Mitochondrion;Cytoplasm;Secreted NA 0 PE1 -NX_Q6WQI6 10305 88 8.04 11 Cytoplasm;Golgi apparatus NA 0 PE5 -NX_Q6WRI0 290838 2623 9.25 3 Nucleoplasm;Cytoskeleton;Secreted NA 0 PE1 -NX_Q6WRX3 85808 759 8.3 1 Nucleus NA 0 PE1 -NX_Q6X4T0 14485 127 8.66 12 NA NA 0 PE2 -NX_Q6X4U4 23307 206 9.81 7 Secreted NA 0 PE1 -NX_Q6X4W1 60143 530 9.19 9 Nucleus matrix;Synaptosome;Synapse;Nucleus membrane;Nucleoplasm;Cytoplasm;Cell cortex;Nucleus envelope;Cell membrane;Dendrite;Nucleus;Membrane;Postsynaptic density;Cytoskeleton Hypogonadotropic hypogonadism 9 with or without anosmia 0 PE1 -NX_Q6X784 38652 338 8.04 17 Acrosome;Secreted NA 0 PE1 -NX_Q6X9E4 53056 464 7.85 3 NA NA 0 PE1 -NX_Q6XCG6 11455 107 7.94 1 NA NA 0 PE4 -NX_Q6XD76 19253 172 9.23 12 Nucleus NA 0 PE1 -NX_Q6XE24 47840 437 8.12 3 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q6XE38 9201 83 9.14 11 Secreted NA 0 PE1 -NX_Q6XLA1 11902 102 8.53 10 NA NA 0 PE2 -NX_Q6XPR3 90731 784 6.42 1 Extracellular matrix NA 0 PE1 -NX_Q6XPS3 61112 522 8.8 13 Endoplasmic reticulum membrane;Cytoplasm NA 3 PE1 -NX_Q6XQN6 57578 538 5.51 8 Cytosol;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q6XR72 52684 485 6.28 1 Recycling endosome;trans-Golgi network;Cell membrane;Early endosome Hypermanganesemia with dystonia 1 6 PE1 -NX_Q6XUX3 105206 929 6.29 1 Nucleus speckle;Apical cell membrane;Basolateral cell membrane;Cytoplasm;Cell membrane;Cytoskeleton;Cell junction Congenital anomalies of the kidney and urinary tract 1;Spastic paraplegia 23 0 PE1 -NX_Q6XXX2 15753 140 9.79 21 NA NA 0 PE5 -NX_Q6XYB7 21482 198 8.95 2 Nucleus;Midbody NA 0 PE2 -NX_Q6XYQ8 59127 523 7.57 12 Nucleoplasm;Cytoplasmic vesicle;Secretory vesicle membrane NA 1 PE1 -NX_Q6XZB0 52922 460 9.18 21 Membrane;Secreted Hypertriglyceridemia, familial 0 PE1 -NX_Q6XZF7 177347 1577 5.26 10 Synapse;Nucleolus;Golgi apparatus;Cytosol;Cytoplasm;Nucleus;Golgi stack;Cytoskeleton NA 0 PE1 -NX_Q6Y1H2 28368 254 9.56 3 Endoplasmic reticulum membrane NA 6 PE1 -NX_Q6Y288 56564 498 7.23 13 Endoplasmic reticulum membrane Peters-plus syndrome 1 PE1 -NX_Q6Y2X3 78569 702 8.37 12 Endoplasmic reticulum membrane NA 3 PE1 -NX_Q6Y7W6 150070 1299 5.45 2 Cytosol Parkinson disease 11 0 PE1 -NX_Q6YBV0 56157 504 6.6 11 Cytosol;Cell membrane;Golgi apparatus;Membrane NA 10 PE1 -NX_Q6YFQ2 10529 88 9.21 19 Cytosol;Nucleoplasm;Cell membrane;Mitochondrion intermembrane space NA 0 PE1 -NX_Q6YHK3 161689 1445 5.59 6 Cell membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q6YHU6 219607 1953 5.71 2 Cytosol NA 0 PE1 -NX_Q6YI46 39665 380 8.78 8 Endoplasmic reticulum;Membrane NA 6 PE1 -NX_Q6YN16 45395 418 8.07 9 Mitochondrion;Peroxisome NA 0 PE1 -NX_Q6YP21 51400 454 8.4 1 Cytosol;Nucleolus NA 0 PE1 -NX_Q6ZMB0 42748 384 7.65 11 Golgi apparatus membrane NA 1 PE1 -NX_Q6ZMB5 45777 413 8.4 7 Endosome;Nucleoplasm;Early endosome membrane;Cell membrane;Perinuclear region;Cytoplasmic vesicle membrane;Secretory vesicle membrane NA 7 PE1 -NX_Q6ZMC9 35653 328 8.86 18 Nucleoplasm;Golgi apparatus;Membrane NA 1 PE1 -NX_Q6ZMD2 54769 512 6.14 17 Membrane NA 12 PE1 -NX_Q6ZMG9 44890 384 7.56 2 Endoplasmic reticulum membrane;Nucleus;Nucleus membrane NA 5 PE1 -NX_Q6ZMH5 56461 540 6.33 12 Cytosol;Cytoplasmic vesicle;Basolateral cell membrane;Nucleoplasm Myopia 24, autosomal dominant 6 PE1 -NX_Q6ZMI0 88314 780 6.4 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q6ZMI3 58957 551 8.1 15 Axon;Secreted;Cell membrane;Extracellular matrix Lethal congenital contracture syndrome 11 1 PE1 -NX_Q6ZMJ2 53994 495 6.65 8 Cell membrane NA 1 PE1 -NX_Q6ZMJ4 27482 242 6.82 16 Secreted NA 0 PE1 -NX_Q6ZMK1 40703 362 6.87 8 Nucleoplasm;Cytoplasm;Perinuclear region NA 0 PE1 -NX_Q6ZMM2 53193 481 8.59 19 Secreted;Golgi apparatus;Extracellular matrix NA 0 PE1 -NX_Q6ZMN7 117103 1036 5.61 12 NA NA 0 PE1 -NX_Q6ZMN8 40622 369 8.07 5 Cytosol;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q6ZMP0 112450 1018 7.94 15 Nucleolus;Nucleus;Extracellular matrix NA 0 PE1 -NX_Q6ZMQ8 144569 1374 4.48 17 Mitochondrion;Cytoplasm;Perinuclear region;Membrane NA 1 PE1 -NX_Q6ZMR3 36507 332 6.51 11 Cytoplasm NA 0 PE1 -NX_Q6ZMR5 47569 421 9.32 4 Membrane NA 1 PE1 -NX_Q6ZMS4 62084 543 8.45 3 Nucleus NA 0 PE1 -NX_Q6ZMS7 31422 281 4.9 7 Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q6ZMT1 45009 411 7.03 17 Cytosol;Cytoplasmic vesicle;Cell membrane;Sarcolemma;Nucleoplasm NA 0 PE1 -NX_Q6ZMT4 106557 941 8.34 7 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q6ZMT9 88329 781 6.81 4 NA NA 0 PE2 -NX_Q6ZMU1 40197 363 6.32 19 NA NA 0 PE5 -NX_Q6ZMU5 52731 477 6.05 16 Cytoplasmic vesicle membrane;Nucleolus;Nucleus;Sarcolemma NA 0 PE1 -NX_Q6ZMV5 95804 832 4.72 X NA NA 0 PE1 -NX_Q6ZMV7 45158 388 6.29 3 NA NA 0 PE2 -NX_Q6ZMV8 59040 503 9.48 19 Nucleus NA 0 PE2 -NX_Q6ZMV9 92569 814 6.47 6 Cytoskeleton;Centrosome NA 0 PE1 -NX_Q6ZMW2 80904 699 9.21 9 Mitochondrion;Nucleus NA 0 PE1 -NX_Q6ZMW3 217899 1958 7.17 2 Mitochondrion;Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 -NX_Q6ZMY3 130027 1216 6.82 1 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q6ZMY6 52621 472 6.98 19 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q6ZMY9 54711 492 9.26 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6ZMZ0 77925 732 5.81 1 Endoplasmic reticulum membrane;Cytosol;Cytoplasmic granule membrane NA 2 PE1 -NX_Q6ZMZ3 112216 975 5.88 14 Rough endoplasmic reticulum;Nucleus envelope;Nucleus membrane;Nucleus outer membrane NA 1 PE1 -NX_Q6ZN01 44632 415 6.57 19 Nucleus speckle;Nucleus NA 0 PE2 -NX_Q6ZN03 32374 302 9.1 21 NA NA 0 PE5 -NX_Q6ZN04 58832 569 6.44 15 P-body;Cytoplasmic granule;Cytosol;Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6ZN06 71721 617 9.5 19 Nucleus NA 0 PE1 -NX_Q6ZN08 65874 573 9.46 19 Nucleus NA 0 PE5 -NX_Q6ZN11 46927 406 9.48 19 Cytosol;Nucleolus;Nucleus NA 0 PE2 -NX_Q6ZN16 147437 1313 5.42 X Cytoplasmic vesicle NA 0 PE1 -NX_Q6ZN17 27084 250 9.15 6 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q6ZN18 54467 517 5.1 12 Nucleus NA 0 PE1 -NX_Q6ZN19 93148 808 9.48 19 Nucleus NA 0 PE1 -NX_Q6ZN28 96639 852 6.43 7 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 -NX_Q6ZN30 122330 1099 6.07 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6ZN32 39948 361 9 1 Nucleus NA 0 PE2 -NX_Q6ZN44 92932 842 6.33 5 Cytosol;Cell projection;Membrane raft;Cell membrane NA 1 PE1 -NX_Q6ZN54 58710 512 6.09 16 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q6ZN55 98900 896 8.44 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6ZN57 52740 461 8.91 5 Nucleus NA 0 PE1 -NX_Q6ZN66 72427 633 5.98 1 NA NA 0 PE1 -NX_Q6ZN68 43060 376 8.74 7 Endoplasmic reticulum;Membrane NA 6 PE5 -NX_Q6ZN79 34734 300 9.36 12 Nucleus NA 0 PE2 -NX_Q6ZN84 76084 652 9.25 11 Centrosome;Cell membrane NA 0 PE1 -NX_Q6ZN92 15492 141 7.06 9 NA NA 0 PE5 -NX_Q6ZNA1 107717 936 9.39 19 Nucleus NA 0 PE1 -NX_Q6ZNA4 108862 994 6.67 15 Cytosol;PML body;Nucleus;Cytoplasm NA 0 PE1 -NX_Q6ZNA5 66114 592 7.11 1 Membrane NA 7 PE1 -NX_Q6ZNB5 15763 142 8.53 11 Nucleolus NA 0 PE5 -NX_Q6ZNB6 101339 911 8.85 4 Nucleoplasm;Membrane NA 1 PE1 -NX_Q6ZNB7 51500 445 7.75 7 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 5 PE1 -NX_Q6ZNC4 45276 412 8.8 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6ZNC8 56557 495 9.33 6 Mitochondrion;Membrane NA 9 PE1 -NX_Q6ZNE5 55309 492 6.59 14 Endoplasmic reticulum membrane;Autophagosome membrane;Preautophagosomal structure membrane;Cytoplasm NA 0 PE1 -NX_Q6ZNE9 64350 571 6.44 2 Autophagosome NA 0 PE1 -NX_Q6ZNF0 50480 438 9.3 19 Secreted NA 0 PE1 -NX_Q6ZNG0 48503 422 8.64 3 Nucleus;Centrosome NA 0 PE1 -NX_Q6ZNG1 83124 722 9.4 19 Nucleus NA 0 PE1 -NX_Q6ZNG2 36555 339 9.47 12 Nucleus NA 0 PE2 -NX_Q6ZNG9 56205 492 5.67 17 Nucleoplasm NA 0 PE1 -NX_Q6ZNH5 54721 498 9.27 19 Nucleus;Cell junction NA 0 PE1 -NX_Q6ZNI0 49319 430 8.93 20 Golgi apparatus membrane NA 1 PE2 -NX_Q6ZNJ1 302517 2754 5.95 3 Endoplasmic reticulum Gray platelet syndrome 0 PE1 -NX_Q6ZNK6 17888 161 6.96 5 NA NA 0 PE1 -NX_Q6ZNL6 159891 1462 4.93 3 Cytoskeleton;Golgi apparatus;Endoplasmic reticulum;Ruffle membrane;Early endosome NA 0 PE1 -NX_Q6ZNM6 15452 134 9.3 5 NA NA 0 PE1 -NX_Q6ZNQ3 39592 347 8.89 8 Cell membrane NA 0 PE1 -NX_Q6ZNR0 18162 172 4.96 19 Membrane NA 2 PE2 -NX_Q6ZNW5 42362 385 6.01 15 Cytosol;Cytoplasm NA 0 PE1 -NX_Q6ZNX1 28842 250 9.18 5 Nucleoplasm;Nucleolus;Chromosome NA 0 PE1 -NX_Q6ZP01 117985 1051 5.48 2 Cytoplasm NA 0 PE1 -NX_Q6ZP29 31947 291 8.23 1 Cytoplasmic vesicle;Lysosome membrane NA 7 PE1 -NX_Q6ZP65 64841 573 4.93 12 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Centrosome NA 0 PE1 -NX_Q6ZP68 13416 121 8.66 13 NA NA 0 PE2 -NX_Q6ZP80 25879 229 6.42 2 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 3 PE1 -NX_Q6ZP82 166261 1450 5.41 2 Nucleoplasm;Cytoplasm;Centrosome NA 0 PE1 -NX_Q6ZP98 14599 133 10.17 16 NA NA 0 PE2 -NX_Q6ZPA2 13472 131 6.7 19 NA NA 0 PE2 -NX_Q6ZPB5 16112 146 8.99 6 Membrane NA 2 PE1 -NX_Q6ZPD8 38593 337 9.87 X Endoplasmic reticulum membrane NA 2 PE2 -NX_Q6ZPD9 83197 716 8.94 19 Cytoskeleton;Membrane NA 12 PE1 -NX_Q6ZQN5 32979 318 8.93 10 Nucleus NA 0 PE2 -NX_Q6ZQN7 78948 724 7.67 5 Basolateral cell membrane NA 12 PE1 -NX_Q6ZQQ2 175618 1576 9.07 9 Membrane NA 1 PE1 -NX_Q6ZQQ6 333185 2873 6.94 19 NA NA 0 PE1 -NX_Q6ZQR2 36499 320 10.26 9 Cytosol;Cilium NA 0 PE1 -NX_Q6ZQT0 15498 140 7.4 4 NA NA 0 PE5 -NX_Q6ZQT7 25248 251 10.23 10 NA NA 0 PE2 -NX_Q6ZQV5 9552 82 4.56 19 Nucleus NA 0 PE5 -NX_Q6ZQW0 47075 420 6.39 8 NA NA 0 PE1 -NX_Q6ZQX7 49656 453 7.79 17 Cytosol;Nucleolus NA 0 PE1 -NX_Q6ZQY2 41621 392 5.01 22 NA NA 0 PE2 -NX_Q6ZQY3 59246 521 5.98 3 Cytosol;Cell membrane NA 0 PE1 -NX_Q6ZQY7 14345 126 9.3 15 NA NA 0 PE2 -NX_Q6ZR03 31336 302 7.13 21 NA NA 0 PE2 -NX_Q6ZR08 356942 3092 5.85 3 Cilium axoneme NA 0 PE1 -NX_Q6ZR37 44301 379 8.55 12 NA NA 0 PE2 -NX_Q6ZR52 75342 646 9.44 19 Nucleus NA 0 PE1 -NX_Q6ZR54 19406 194 10.93 22 NA NA 0 PE5 -NX_Q6ZR62 34685 310 5.5 X Cytosol;Nucleus;Cell membrane NA 0 PE2 -NX_Q6ZR85 19931 190 6.91 17 Nucleus NA 0 PE2 -NX_Q6ZR98 28560 269 9.17 3 Secreted NA 0 PE5 -NX_Q6ZRC1 30622 276 5.57 4 NA NA 0 PE2 -NX_Q6ZRF7 15513 136 10.24 19 Nucleus NA 0 PE5 -NX_Q6ZRF8 70861 634 6.21 1 Cytosol;Cytoplasm NA 0 PE1 -NX_Q6ZRG5 24122 221 4.39 17 NA NA 0 PE5 -NX_Q6ZRH7 133032 1159 5.95 19 Cytosol;Nucleolus;Nucleus;Membrane NA 1 PE1 -NX_Q6ZRI0 314794 2925 5.57 11 Extracellular space;Apical cell membrane Deafness, autosomal recessive, 18B 0 PE1 -NX_Q6ZRI6 110673 1047 7.72 15 Cytosol NA 0 PE1 -NX_Q6ZRI8 61664 547 9.48 X Cytoplasmic vesicle;Nucleus;Cell membrane NA 0 PE1 -NX_Q6ZRK6 124154 1079 5.42 11 NA NA 0 PE1 -NX_Q6ZRM9 21770 215 9.15 7 NA NA 0 PE2 -NX_Q6ZRN7 21161 208 11.78 16 NA NA 0 PE2 -NX_Q6ZRP0 27805 262 4.48 3 NA NA 0 PE2 -NX_Q6ZRP5 25262 223 11.34 4 NA NA 0 PE5 -NX_Q6ZRP7 77529 698 7.64 9 Nucleus membrane;Golgi apparatus;Secreted;Nucleoplasm;Cell membrane;Membrane NA 1 PE1 -NX_Q6ZRQ5 142321 1243 6.72 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6ZRR5 27859 245 8.83 11 Cytosol;Cytoplasmic vesicle;Membrane NA 6 PE2 -NX_Q6ZRR7 166911 1453 7.66 14 NA NA 0 PE2 -NX_Q6ZRR9 72753 648 9.05 11 Spindle;Midbody ring;Midbody NA 0 PE1 -NX_Q6ZRS2 343555 3230 5.69 16 Nucleoplasm;Cytoplasm;Nucleus Floating-Harbor syndrome 0 PE1 -NX_Q6ZRS4 115403 1044 5.18 7 Nucleoplasm NA 0 PE2 -NX_Q6ZRT6 28269 265 4.65 3 NA NA 0 PE2 -NX_Q6ZRU5 16879 148 9.72 17 Secreted NA 0 PE5 -NX_Q6ZRV2 127122 1179 6.52 8 Cytosol;Cytoskeleton Amelogenesis imperfecta 3A 0 PE1 -NX_Q6ZRV3 16900 163 4.89 3 NA NA 0 PE5 -NX_Q6ZRX8 18969 168 10.14 12 NA NA 0 PE5 -NX_Q6ZRY4 22497 209 8.63 15 Cytoplasm NA 0 PE1 -NX_Q6ZRZ4 22306 202 10.08 9 Secreted NA 0 PE2 -NX_Q6ZS02 23740 220 8.42 15 NA NA 0 PE5 -NX_Q6ZS10 42935 378 4.6 19 Membrane NA 1 PE1 -NX_Q6ZS11 62466 566 5.59 19 Cytoplasmic vesicle;Nucleoplasm;Ruffle NA 0 PE1 -NX_Q6ZS17 132308 1223 5.87 16 Cytosol;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q6ZS27 48496 426 7.76 3 Nucleus NA 0 PE1 -NX_Q6ZS30 307237 2694 6.01 2 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q6ZS46 22150 218 10.58 6 NA NA 0 PE5 -NX_Q6ZS49 13061 121 9.78 17 NA NA 0 PE5 -NX_Q6ZS52 17352 159 10.74 6 NA NA 0 PE5 -NX_Q6ZS62 13401 124 4.47 11 Membrane NA 1 PE2 -NX_Q6ZS72 50509 473 8.86 19 NA NA 0 PE1 -NX_Q6ZS81 353610 3184 5.9 10 Cytosol;Nucleoplasm;Membrane NA 2 PE1 -NX_Q6ZS82 25148 235 6.84 19 Membrane Prolonged electroretinal response suppression 1 PE1 -NX_Q6ZS86 59156 529 6.48 3 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q6ZS92 18106 163 9.99 4 NA NA 0 PE5 -NX_Q6ZS94 24356 237 11.59 1 NA NA 0 PE2 -NX_Q6ZSA7 33009 298 5.55 11 Cell membrane NA 1 PE1 -NX_Q6ZSA8 13825 131 11.82 19 NA NA 0 PE5 -NX_Q6ZSB3 15654 139 7.82 2 NA NA 0 PE5 -NX_Q6ZSB9 85061 765 6.52 4 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q6ZSC3 40666 357 9.67 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q6ZSG1 39526 346 8.19 18 Nucleus;Cell membrane NA 0 PE1 -NX_Q6ZSG2 52909 479 8.23 10 Postsynaptic density NA 0 PE1 -NX_Q6ZSI9 81037 719 5.95 19 Nucleoplasm;Focal adhesion NA 0 PE2 -NX_Q6ZSJ8 11471 110 6.29 1 NA NA 0 PE1 -NX_Q6ZSJ9 55764 500 9.44 17 Postsynaptic density;Membrane NA 1 PE1 -NX_Q6ZSK4 15188 140 9.61 11 NA NA 0 PE5 -NX_Q6ZSM3 56498 516 8.64 10 Mitochondrion;Cell membrane Cataract 47 12 PE1 -NX_Q6ZSN1 16659 163 11.74 9 NA NA 0 PE2 -NX_Q6ZSR3 17863 168 8.77 15 Mitochondrion NA 0 PE5 -NX_Q6ZSR6 22955 202 6.09 16 NA NA 0 PE2 -NX_Q6ZSR9 37976 355 5.14 2 NA NA 0 PE1 -NX_Q6ZSS3 49205 439 9.16 3 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q6ZSS7 88088 791 5.35 2 Cytosol;Nucleoplasm;Cytoskeleton;Membrane NA 12 PE1 -NX_Q6ZST2 14410 131 9.53 4 NA NA 0 PE2 -NX_Q6ZST4 17784 164 8.42 9 NA NA 0 PE2 -NX_Q6ZSU1 16683 146 6.27 19 NA NA 0 PE5 -NX_Q6ZSV7 16907 163 8.74 6 NA NA 0 PE2 -NX_Q6ZSY5 82798 799 4.5 X Nucleoplasm;Membrane NA 1 PE1 -NX_Q6ZSZ5 151642 1361 5.98 19 Cytosol;Cytoplasm;Cytoskeleton;Apical cell membrane;Cell membrane Retinitis pigmentosa 78 0 PE1 -NX_Q6ZSZ6 117916 1077 6.62 18 Nucleoplasm;Nucleus Aural atresia, congenital 0 PE1 -NX_Q6ZT07 143229 1266 5.18 4 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q6ZT12 212433 1888 5.74 2 Nucleolus;Nucleus;Membrane NA 3 PE1 -NX_Q6ZT21 49453 453 6.43 3 Nucleoplasm;Mitochondrion;Membrane NA 5 PE1 -NX_Q6ZT52 36776 329 10.36 1 Cytosol NA 0 PE1 -NX_Q6ZT62 73599 677 5.13 22 Cytosol;Cell membrane NA 0 PE1 -NX_Q6ZT77 20580 177 10.14 19 Nucleus NA 0 PE5 -NX_Q6ZT83 14355 130 10.52 18 NA NA 0 PE2 -NX_Q6ZT89 33440 311 8.95 5 Cytoskeleton;Mitochondrion inner membrane NA 6 PE1 -NX_Q6ZT98 102999 887 9.36 1 Cytosol;Dendrite;Perikaryon;Cilium;Cilium basal body NA 0 PE1 -NX_Q6ZTA4 83823 783 7.08 1 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q6ZTB9 21749 187 8.93 19 NA NA 0 PE5 -NX_Q6ZTC4 22100 211 10.68 20 NA NA 0 PE2 -NX_Q6ZTI0 12888 123 10 11 NA NA 0 PE5 -NX_Q6ZTI6 23610 216 8.75 12 Nucleoplasm;Cytoskeleton;Golgi apparatus NA 0 PE1 -NX_Q6ZTK2 61934 550 9.07 16 NA NA 0 PE2 -NX_Q6ZTN6 58476 518 5.26 11 Mitochondrion;Late endosome;Nucleus;Cell membrane NA 0 PE1 -NX_Q6ZTQ3 43384 369 8.79 4 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q6ZTQ4 97977 885 5.26 7 Nucleolus;Cell membrane NA 1 PE1 -NX_Q6ZTR5 361625 3187 7.55 X NA NA 0 PE1 -NX_Q6ZTR6 17236 163 10.37 18 NA NA 0 PE2 -NX_Q6ZTR7 34755 304 8.84 16 Centriole;Cilium basal body NA 0 PE1 -NX_Q6ZTU2 51753 488 6.76 12 NA NA 0 PE5 -NX_Q6ZTW0 31275 290 9.26 19 Flagellum axoneme;Axon;Dendrite;Cilium axoneme;Flagellum basal body;Centrosome;Cilium basal body NA 0 PE1 -NX_Q6ZTY9 16773 151 9.48 7 NA NA 0 PE2 -NX_Q6ZTZ1 31632 278 8.99 4 NA NA 0 PE2 -NX_Q6ZU15 50025 432 5.87 7 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q6ZU35 136760 1233 5.5 4 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q6ZU45 44255 400 6.37 1 NA NA 0 PE2 -NX_Q6ZU52 79163 694 8.64 6 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q6ZU64 217250 1925 6.07 2 Flagellum membrane NA 1 PE1 -NX_Q6ZU65 146089 1347 9.24 7 Nucleoplasm NA 0 PE1 -NX_Q6ZU67 58375 534 5.75 4 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q6ZU69 148096 1335 8.62 9 Membrane NA 1 PE1 -NX_Q6ZU80 128015 1094 6.11 14 Cytosol;Centriole;Microtubule organizing center;Centrosome;Spindle pole NA 0 PE1 -NX_Q6ZUA9 149091 1318 7.63 8 NA NA 0 PE2 -NX_Q6ZUB0 102306 917 8.2 9 Membrane NA 1 PE2 -NX_Q6ZUB1 157136 1445 9.29 9 Membrane NA 1 PE1 -NX_Q6ZUF6 20903 198 11.57 6 NA NA 0 PE5 -NX_Q6ZUG5 66039 572 6.81 3 NA NA 0 PE1 -NX_Q6ZUI0 31230 275 6.61 3 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q6ZUJ4 30194 267 5.36 3 Nucleus speckle NA 0 PE1 -NX_Q6ZUJ8 90398 805 5.25 10 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q6ZUK4 41672 368 6.4 10 Membrane NA 8 PE1 -NX_Q6ZUL3 24736 223 9.59 8 NA NA 0 PE2 -NX_Q6ZUM4 98396 889 5.4 17 Cytosol;Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_Q6ZUS5 33061 278 9.84 2 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q6ZUS6 52796 474 5.92 4 Nucleolus NA 0 PE1 -NX_Q6ZUT1 34110 292 9.73 11 Cytosol NA 0 PE1 -NX_Q6ZUT3 81614 714 8.05 X Cell projection;Growth cone Nystagmus congenital X-linked 1 0 PE1 -NX_Q6ZUT4 14221 128 9.39 12 NA NA 0 PE5 -NX_Q6ZUT6 57325 534 9.31 15 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q6ZUT9 145020 1274 6.29 12 Cytoskeleton;Nucleolus;Membrane NA 1 PE1 -NX_Q6ZUU3 18625 175 11.34 3 Nucleolus NA 0 PE2 -NX_Q6ZUV0 28164 252 6.71 4 Cytoplasm NA 0 PE5 -NX_Q6ZUX3 111153 1019 9.51 2 NA NA 0 PE1 -NX_Q6ZUX7 24486 228 6.06 5 Cytoplasmic vesicle;Cytoskeleton;Membrane NA 4 PE1 -NX_Q6ZV29 145705 1317 7.77 9 Microsome membrane;Lysosome membrane;Nucleus membrane;Cytosol;Microtubule organizing center;Membrane;Mitochondrion membrane NA 1 PE1 -NX_Q6ZV50 66266 586 5.75 2 Nucleoplasm;Nucleus NA 0 PE2 -NX_Q6ZV56 16313 151 6.5 22 NA NA 0 PE5 -NX_Q6ZV60 16386 143 9.92 12 NA NA 0 PE5 -NX_Q6ZV65 45662 393 9.47 4 Cytosol;Cell membrane NA 0 PE2 -NX_Q6ZV70 46319 420 6.71 X Mitochondrion NA 0 PE1 -NX_Q6ZV73 160816 1430 6.61 12 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q6ZV77 20001 190 6.99 9 NA NA 0 PE2 -NX_Q6ZV80 14825 131 9.55 2 NA NA 0 PE2 -NX_Q6ZV89 46797 423 8.89 1 Cytosol;Postsynaptic density NA 0 PE1 -NX_Q6ZVC0 87928 841 9.72 7 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q6ZVD7 110962 989 7.82 10 Nucleolus;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Centrosome Pre-eclampsia/eclampsia 4 0 PE1 -NX_Q6ZVD8 146751 1323 5.45 16 Cytoplasmic vesicle;Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_Q6ZVE7 14887 132 10.38 1 Golgi apparatus membrane NA 4 PE1 -NX_Q6ZVF9 82439 776 7.52 4 Nucleolus;Nucleus NA 0 PE1 -NX_Q6ZVH6 15831 145 8.23 11 NA NA 0 PE2 -NX_Q6ZVH7 108132 1005 6.01 2 Stereocilium NA 0 PE1 -NX_Q6ZVK1 26378 233 5.07 14 Mitochondrion;Membrane NA 4 PE1 -NX_Q6ZVK8 35501 323 5.83 8 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q6ZVL6 198999 1849 8.32 11 Nucleoplasm;Membrane NA 1 PE1 -NX_Q6ZVL8 15891 140 9.03 16 NA NA 0 PE2 -NX_Q6ZVM7 55556 507 4.69 17 Cytoskeleton;Golgi apparatus NA 0 PE1 -NX_Q6ZVN7 14085 128 9.69 7 NA NA 0 PE2 -NX_Q6ZVN8 45080 426 7.57 1 Cell membrane Hemochromatosis 2A 0 PE1 -NX_Q6ZVQ6 17006 151 11.05 19 NA NA 0 PE2 -NX_Q6ZVS7 16193 135 8.06 7 Cilium basal body NA 0 PE5 -NX_Q6ZVT0 75042 673 9.36 1 NA NA 0 PE1 -NX_Q6ZVT6 76271 689 5.09 3 Golgi apparatus NA 0 PE2 -NX_Q6ZVU0 18168 165 9.05 11 NA NA 0 PE5 -NX_Q6ZVW7 37514 336 8.74 22 NA NA 0 PE1 -NX_Q6ZVX7 30847 275 6.16 19 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q6ZVX9 42692 377 8.92 3 Cell membrane NA 7 PE1 -NX_Q6ZVZ8 50803 466 6.49 2 NA NA 0 PE2 -NX_Q6ZW05 96371 846 8.84 6 Cytosol;Cell membrane;Membrane NA 12 PE1 -NX_Q6ZW13 33511 317 5.29 16 NA NA 0 PE1 -NX_Q6ZW31 79793 735 8.72 19 Cytosol;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q6ZW33 77277 695 8.64 11 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q6ZW35 18328 169 7 1 NA NA 0 PE2 -NX_Q6ZW49 121341 1069 6.24 7 Cytoplasmic vesicle;Nucleoplasm;Nucleus matrix;Chromosome NA 0 PE1 -NX_Q6ZW61 79085 710 5.8 4 Cilium Bardet-Biedl syndrome 12 0 PE1 -NX_Q6ZW76 72038 656 5.31 16 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q6ZWB6 52440 473 8.6 4 Cytoplasmic vesicle;Postsynaptic cell membrane;Presynaptic cell membrane NA 0 PE1 -NX_Q6ZWC4 22988 215 9.32 19 NA NA 0 PE5 -NX_Q6ZWE6 87166 761 6.69 2 Cytoplasmic vesicle;Cytoplasm;Cytosol;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q6ZWH5 133259 1172 6.35 3 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q6ZWI9 29922 263 5.52 6 NA NA 0 PE2 -NX_Q6ZWJ1 61662 553 5.12 17 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q6ZWJ8 166935 1568 5.5 7 Secreted NA 0 PE1 -NX_Q6ZWK4 19405 172 4.76 1 Cell membrane NA 1 PE1 -NX_Q6ZWK6 49410 438 9.33 4 Membrane NA 1 PE2 -NX_Q6ZWL3 60724 525 7.19 4 Endoplasmic reticulum membrane;Nucleus speckle Bietti crystalline corneoretinal dystrophy 1 PE1 -NX_Q6ZWT7 59527 520 8.3 2 Cytoplasmic vesicle;Membrane NA 9 PE1 -NX_Q6ZXV5 104009 915 9.03 12 Endoplasmic reticulum;Membrane Lissencephaly 8 9 PE1 -NX_Q6ZYL4 8053 71 4.5 6 Nucleus Trichothiodystrophy 3, photosensitive 0 PE1 -NX_Q701N2 21409 237 8.39 11 NA NA 0 PE2 -NX_Q701N4 16271 177 8.31 11 NA NA 0 PE1 -NX_Q702N8 198561 1843 5.78 3 Cytoskeleton;Nucleus;Cell junction NA 0 PE1 -NX_Q709C8 422390 3753 6.38 15 Cytoskeleton;Mitochondrion outer membrane Parkinson disease 23, autosomal recessive, early onset 0 PE1 -NX_Q709F0 87264 780 8.23 3 Mitochondrion;Peroxisome NA 0 PE1 -NX_Q70CQ1 79198 688 9.37 6 Nucleus NA 0 PE1 -NX_Q70CQ2 404233 3546 5.51 2 Cytoplasm;Nucleus NA 0 PE1 -NX_Q70CQ3 58503 517 8.57 12 Mitochondrion outer membrane NA 1 PE1 -NX_Q70CQ4 146651 1352 9.35 16 Cytosol NA 0 PE1 -NX_Q70E73 135256 1250 8.97 2 Cytosol;Cell membrane;Nucleus;Filopodium;Lamellipodium;Cytoskeleton NA 0 PE1 -NX_Q70EK8 120806 1073 7.54 4 Nucleoplasm;Tight junction;Golgi apparatus NA 0 PE1 -NX_Q70EK9 79756 711 8.73 X Cytosol;Nucleolus;Chromosome NA 0 PE1 -NX_Q70EL1 187388 1684 6.89 10 Mitochondrion NA 0 PE1 -NX_Q70EL2 91733 814 8.32 6 Cytosol;Nucleus NA 0 PE1 -NX_Q70EL3 38955 339 6.31 15 NA NA 0 PE2 -NX_Q70EL4 122809 1123 9.35 17 NA NA 0 PE1 -NX_Q70HW3 29354 274 9.39 3 Mitochondrion;Mitochondrion inner membrane Combined oxidative phosphorylation deficiency 28 6 PE1 -NX_Q70IA6 26927 237 6.3 11 Cytosol;Perinuclear region;Nucleolus;Nucleus NA 0 PE1 -NX_Q70IA8 25623 216 9.01 1 NA NA 0 PE1 -NX_Q70J99 123282 1090 6.19 17 Late endosome;Lysosome;Cytosol;Cytoplasm;Cytoplasmic vesicle;Membrane;Recycling endosome Familial hemophagocytic lymphohistiocytosis 3 0 PE1 -NX_Q70JA7 100284 882 8.91 5 Golgi stack membrane NA 1 PE1 -NX_Q70SY1 57415 520 5.3 7 Endoplasmic reticulum membrane;Nucleoplasm;Nucleus;Endoplasmic reticulum NA 1 PE1 -NX_Q70UQ0 39309 350 9.21 12 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q70YC4 24036 216 8.19 10 NA Uric acid nephrolithiasis 0 PE2 -NX_Q70YC5 46542 407 9.3 10 Cytoplasmic vesicle;Centrosome;Microtubule organizing center NA 0 PE1 -NX_Q70Z35 182622 1606 7.26 8 Endoplasmic reticulum NA 0 PE1 -NX_Q70Z44 50191 454 9.02 3 Cell membrane NA 4 PE1 -NX_Q70Z53 37548 315 8.25 10 Nucleus NA 0 PE1 -NX_Q711Q0 156477 1435 5.98 10 Z line NA 0 PE1 -NX_Q712K3 27166 238 4.26 9 Nucleolus;Nucleus NA 0 PE1 -NX_Q717R9 16393 158 6.76 2 Cilium membrane;Cilium axoneme NA 0 PE1 -NX_Q719H9 29405 257 6.61 18 Nucleus Scalp-ear-nipple syndrome 0 PE1 -NX_Q719I0 33806 299 6.98 2 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE5 -NX_Q71DI3 15388 136 11.27 1 Nucleus;Chromosome NA 0 PE1 -NX_Q71F23 47522 418 9.18 4 Kinetochore;Cytoplasm;Nucleus;Microtubule organizing center NA 0 PE1 -NX_Q71F56 242602 2210 5.67 12 Nucleus;Golgi apparatus Transposition of the great arteries dextro-looped 1;Mental retardation and distinctive facial features with or without cardiac defects 0 PE1 -NX_Q71F78 17306 164 9.33 X NA NA 0 PE2 -NX_Q71H61 71200 639 8.43 1 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q71RC2 80596 724 6.2 12 Cytosol;Cytoplasm;Stress granule;Nucleus NA 0 PE1 -NX_Q71RC9 8540 77 8.24 17 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 1 PE1 -NX_Q71RG4 33788 321 4.92 17 Cytosol;Cytoplasmic vesicle;Endoplasmic reticulum;Membrane NA 3 PE1 -NX_Q71RG6 21376 208 9.25 8 Secreted NA 0 PE5 -NX_Q71RH2 30629 274 9.12 16 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum NA 4 PE1 -NX_Q71RS6 54888 500 5.77 15 Melanosome;trans-Golgi network membrane Albinism, oculocutaneous, 6 11 PE1 -NX_Q71SY5 78171 747 8.61 19 Nucleoplasm;Cytoplasm;Nucleus Basel-Vanagaite-Smirin-Yosef syndrome;Charcot-Marie-Tooth disease 2B2 0 PE1 -NX_Q71U36 50136 451 4.94 12 Cytoskeleton Lissencephaly 3 0 PE1 -NX_Q71UI9 13509 128 10.58 7 Nucleus;Chromosome NA 0 PE1 -NX_Q71UM5 9477 84 9.57 15 NA NA 0 PE1 -NX_Q75L30 13422 129 9.14 7 NA NA 0 PE5 -NX_Q75LS8 15591 142 4.29 7 NA NA 0 PE5 -NX_Q75MW2 17236 155 9.66 7 NA NA 0 PE5 -NX_Q75N03 54519 491 8.57 7 Nucleoplasm;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q75N90 300356 2809 4.92 19 Extracellular matrix NA 0 PE1 -NX_Q75NE6 8163 70 9.26 13 Membrane Feingold syndrome 2 1 PE5 -NX_Q75QN2 113088 995 6.65 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q75T13 105383 922 9.14 2 Endoplasmic reticulum membrane Mental retardation, autosomal recessive 42 7 PE1 -NX_Q75V66 107188 913 6.37 11 Endoplasmic reticulum membrane;Cell membrane Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy 2L;Miyoshi muscular dystrophy 3 8 PE1 -NX_Q75VX8 92882 874 6.48 2 Cytosol NA 0 PE1 -NX_Q75WM6 28116 255 11.77 12 Nucleus;Chromosome NA 0 PE1 -NX_Q765I0 13749 119 6.11 3 Mitochondrion;Secreted NA 0 PE3 -NX_Q765P7 79929 747 7.18 16 Cytoplasm;Focal adhesion;Ruffle NA 0 PE1 -NX_Q76B58 88445 766 8.06 1 Mitochondrion;Secreted NA 0 PE1 -NX_Q76EJ3 36673 337 8.89 9 Golgi apparatus membrane;Golgi apparatus NA 8 PE1 -NX_Q76FK4 131616 1167 6.67 9 Nucleolus NA 0 PE1 -NX_Q76G19 86171 769 5.8 X Cell cortex NA 0 PE1 -NX_Q76I76 158216 1423 5.26 17 Cytoskeleton NA 0 PE1 -NX_Q76KD6 62399 591 8.31 8 Cytoplasm;Centrosome NA 0 PE1 -NX_Q76KP1 116513 1039 6.51 11 Nucleoplasm;Golgi stack membrane;Cytoskeleton;Spindle NA 1 PE1 -NX_Q76KX8 77167 674 9.42 19 Nucleus NA 0 PE2 -NX_Q76L83 153820 1435 9 2 Nucleoplasm;Nucleus Shashi-Pena syndrome 0 PE1 -NX_Q76LX8 153604 1427 6.96 9 Secreted Thrombotic thrombocytopenic purpura congenital 0 PE1 -NX_Q76M96 108174 950 9.72 3 Extracellular matrix NA 0 PE1 -NX_Q76MJ5 102480 926 6.73 16 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q76N32 81102 757 5.04 2 Nucleus;Centrosome;Microtubule organizing center NA 0 PE1 -NX_Q76N89 179554 1606 5.33 7 Cytosol;Cytoplasm NA 0 PE1 -NX_Q76NI1 191397 1749 5.83 10 Dendrite;Perikaryon NA 0 PE1 -NX_Q7KYR7 59633 527 6.08 6 Cell membrane;Membrane NA 1 PE1 -NX_Q7KZ85 199073 1726 4.81 17 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q7KZF4 101997 910 6.74 7 Cytosol;Cytoplasm;Nucleus;Melanosome NA 0 PE1 -NX_Q7KZI7 87911 788 9.73 11 Nucleoplasm;Cytoplasm;Cell membrane;Dendrite;Cytoskeleton;Lateral cell membrane NA 0 PE1 -NX_Q7KZN9 46030 410 9.85 10 Mitochondrion;Mitochondrion membrane Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2;Leigh syndrome 8 PE1 -NX_Q7L014 117362 1031 9.33 5 Nucleus speckle;Membrane;Nucleus;Cajal body NA 0 PE1 -NX_Q7L099 52965 469 5.36 4 Perikaryon;Cytosol;Cytoplasm;Endomembrane system;Filopodium;Invadopodium;Lamellipodium;Cell projection;Growth cone NA 0 PE1 -NX_Q7L0J3 82695 742 5.38 1 Cytosol;Synaptic vesicle membrane;Synapse;Endoplasmic reticulum NA 12 PE1 -NX_Q7L0L9 23184 218 10.99 1 Membrane NA 2 PE2 -NX_Q7L0Q8 28218 258 8.39 1 Golgi apparatus membrane;Focal adhesion;Podosome;Cell membrane NA 0 PE1 -NX_Q7L0R7 47728 432 6.4 5 Nucleoplasm NA 0 PE2 -NX_Q7L0X0 88723 811 9.7 7 Membrane NA 1 PE1 -NX_Q7L0X2 75255 663 4.87 3 NA NA 0 PE1 -NX_Q7L0Y3 47347 403 9.4 3 Mitochondrion;Mitochondrion nucleoid;Nucleoplasm Combined oxidative phosphorylation deficiency 30 0 PE1 -NX_Q7L190 33541 304 9.57 3 Nucleolus;Nucleus NA 0 PE1 -NX_Q7L1I2 77444 683 5.26 15 Synaptic vesicle membrane;Acrosome NA 12 PE1 -NX_Q7L1Q6 48043 419 5.75 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q7L1S5 52055 443 9.41 18 Golgi apparatus membrane;Secreted NA 1 PE1 -NX_Q7L1T6 59474 521 7.6 6 Endoplasmic reticulum NA 0 PE1 -NX_Q7L1V2 59217 547 5.88 16 Cytosol NA 0 PE1 -NX_Q7L1W4 98201 858 7.76 1 Endoplasmic reticulum membrane;Nucleoplasm;Mitochondrion;Cell membrane NA 4 PE1 -NX_Q7L211 38548 337 8.74 13 Cytosol;Membrane NA 1 PE1 -NX_Q7L266 32055 308 5.84 11 Nucleoplasm;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q7L273 42567 389 5.95 8 Cytosol;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q7L2E3 133938 1194 8.99 3 Mitochondrion nucleoid;Mitochondrion;Cytosol;Cytoplasm Neurodevelopmental disorder with severe motor impairment and absent language 0 PE1 -NX_Q7L2H7 42503 374 5.41 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q7L2J0 74355 689 9.62 7 Nucleoplasm;Cell junction NA 0 PE1 -NX_Q7L2K0 46402 433 9.54 16 Nucleoplasm;Cell junction NA 0 PE1 -NX_Q7L2R6 61633 523 8.92 19 Nucleus NA 0 PE1 -NX_Q7L2Z9 30595 268 9.43 6 Nucleoplasm;Centromere;Nucleus NA 0 PE1 -NX_Q7L311 65683 632 8.68 X Mitochondrion;Nucleus;Mitochondrion outer membrane NA 1 PE1 -NX_Q7L3B6 38835 337 5.22 9 Cytosol;Cytoplasm NA 0 PE1 -NX_Q7L3S4 35702 317 9.15 16 Nucleolus;Nucleus NA 0 PE1 -NX_Q7L3T8 53263 475 8.45 1 Mitochondrion;Mitochondrion matrix;Nucleolus NA 0 PE1 -NX_Q7L3V2 39299 364 4.93 22 Mitochondrion NA 0 PE1 -NX_Q7L4E1 65531 593 5.62 9 Cytosol;Cell junction;Mitochondrion outer membrane NA 2 PE1 -NX_Q7L4I2 50560 434 11.33 12 Cytosol;Cytoplasm;Nucleolus;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q7L4P6 48182 421 5.88 1 NA NA 0 PE1 -NX_Q7L4S7 33019 300 4.69 X Nucleus membrane;Cytosol;Cytoplasm;Cell membrane;Mitochondrion outer membrane;Nucleus;Mitochondrion NA 1 PE1 -NX_Q7L513 38927 359 5.22 1 Cytoplasm NA 0 PE1 -NX_Q7L523 36566 313 7.62 9 Cytoplasm;Nucleus;Lysosome NA 0 PE1 -NX_Q7L576 145182 1253 6.46 15 Synaptosome;Perinuclear region;Ruffle;Lamellipodium;Cytoplasm NA 0 PE1 -NX_Q7L590 98183 875 8.96 10 Nucleolus;Nucleus NA 0 PE1 -NX_Q7L591 53288 496 7.93 5 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q7L592 49238 441 8.47 2 Mitochondrion NA 0 PE1 -NX_Q7L5A3 56690 538 9.09 9 Nucleolus;Nucleus NA 0 PE1 -NX_Q7L5A8 42791 372 8.76 16 Endoplasmic reticulum membrane;Microsome membrane;Nucleus membrane Spastic paraplegia 35, autosomal recessive 4 PE1 -NX_Q7L5D6 36504 327 5.29 7 Nucleoplasm;Cytosol;Nucleolus NA 0 PE1 -NX_Q7L5L3 36596 318 8.13 16 Cytosol;Endoplasmic reticulum;Nucleoplasm;Perinuclear region;Membrane;Cytoskeleton NA 2 PE1 -NX_Q7L5N1 36163 327 5.47 7 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q7L5N7 60208 544 6.14 16 Endoplasmic reticulum membrane;Lipid droplet;Golgi apparatus membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q7L5Y1 49786 443 6.03 18 Mitochondrion NA 0 PE1 -NX_Q7L5Y6 63848 550 7.32 15 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q7L5Y9 45287 396 8.95 4 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus matrix;Cell membrane NA 0 PE1 -NX_Q7L622 80504 706 7.9 14 Cytosol;Cytoplasmic vesicle;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q7L775 70370 607 5.77 3 Endoplasmic reticulum NA 0 PE1 -NX_Q7L7L0 14121 130 11.05 1 Nucleus;Chromosome NA 0 PE1 -NX_Q7L7V1 84419 743 4.88 10 Mitochondrion;Nucleus NA 0 PE1 -NX_Q7L7X3 116070 1001 7.3 17 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q7L804 58279 512 9.33 10 Cytoplasmic vesicle;Nucleoplasm;Recycling endosome membrane;Cell membrane NA 0 PE1 -NX_Q7L8A9 40957 365 9.5 14 Cytoplasm;Secreted NA 0 PE1 -NX_Q7L8C5 46885 426 7.6 11 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 1 PE1 -NX_Q7L8J4 43499 393 5.57 1 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q7L8L6 86574 764 8.41 20 Mitochondrion nucleoid NA 0 PE1 -NX_Q7L8S5 33300 288 6.29 X NA NA 0 PE1 -NX_Q7L8W6 30307 267 5.24 15 Nucleolus;Nucleus NA 0 PE1 -NX_Q7L945 52853 461 9.18 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q7L985 68066 606 8.44 9 Membrane NA 1 PE1 -NX_Q7L9B9 62403 569 8.64 7 Cytoplasmic vesicle;Nucleus speckle;Cell membrane NA 0 PE1 -NX_Q7L9L4 25091 216 6.24 4 Cytoplasm;Nucleus NA 0 PE1 -NX_Q7LBC6 191581 1761 6.78 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q7LBE3 86988 791 8.47 1 Nucleus;Cell junction;Membrane NA 13 PE1 -NX_Q7LBR1 22109 199 7.81 18 Cytosol;Endosome;Late endosome membrane;Nucleus;Midbody NA 0 PE1 -NX_Q7LC44 45316 396 5.45 8 Extracellular vesicle membrane;Synapse;Acrosome;Early endosome membrane;Cell cortex;Cytoplasmic vesicle;Dendrite;Postsynaptic cell membrane;Dendritic spine;Postsynaptic density;Cytoskeleton NA 0 PE1 -NX_Q7LDG7 69248 609 7.89 11 Cytosol;Synaptosome;Cell membrane;Ruffle membrane Bleeding disorder, platelet-type 18 0 PE1 -NX_Q7LDI9 74079 666 9.11 7 Cell membrane NA 0 PE1 -NX_Q7LFL8 32977 322 9.27 5 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q7LFX5 64926 561 8.56 10 Cytosol;Golgi apparatus membrane;Centrosome NA 1 PE1 -NX_Q7LG56 40737 351 4.89 8 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5;Mitochondrial DNA depletion syndrome 8B;Mitochondrial DNA depletion syndrome 8A 0 PE1 -NX_Q7LGA3 41881 356 8.83 1 Mitochondrion;Golgi apparatus membrane NA 1 PE1 -NX_Q7LGC8 54706 479 8.84 10 Cytosol;Golgi apparatus membrane;Golgi apparatus Spondyloepiphyseal dysplasia with congenital joint dislocations 1 PE1 -NX_Q7M4L6 46768 423 6.01 15 Nucleus NA 0 PE1 -NX_Q7RTM1 67353 612 8.71 4 Cell membrane NA 12 PE2 -NX_Q7RTN6 48369 431 6.02 17 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q7RTP0 34562 329 8.7 15 Cell membrane;Early endosome Spastic paraplegia 6, autosomal dominant 9 PE1 -NX_Q7RTP6 224295 2002 5.43 22 Cytosol;Cytoplasm;Cell cortex;Cell membrane;Nucleoplasm;Nucleus;Cytoskeleton;Cilium basal body;Midbody;Spindle NA 0 PE1 -NX_Q7RTR0 113312 991 6.08 19 Cytoplasm;Inflammasome NA 0 PE1 -NX_Q7RTR2 114658 1065 8.64 16 Cytosol;Cytoplasm;Microtubule organizing center NA 0 PE1 -NX_Q7RTR8 36195 314 9.64 12 Nucleoplasm;Cytoskeleton;Focal adhesion;Membrane NA 7 PE2 -NX_Q7RTS1 20818 189 11.26 7 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q7RTS3 34970 328 5.1 10 Nucleoplasm;Cytoplasm;Nucleus Pancreatic agenesis 2;Pancreatic and cerebellar agenesis 0 PE1 -NX_Q7RTS5 66296 596 8.96 17 Cell membrane NA 12 PE1 -NX_Q7RTS6 62236 562 7.04 17 Cell membrane NA 12 PE1 -NX_Q7RTS7 57865 529 7.59 12 NA Ectodermal dysplasia 7, hair/nail type;Woolly hair autosomal dominant;Hypotrichosis 3 0 PE1 -NX_Q7RTS9 75935 669 5.56 18 Cytoplasm;Golgi apparatus;Membrane Smith-McCort dysplasia 1;Dyggve-Melchior-Clausen syndrome 0 PE1 -NX_Q7RTT3 21553 188 9.19 X NA NA 0 PE2 -NX_Q7RTT4 21859 187 9.46 X NA NA 0 PE2 -NX_Q7RTT5 21591 188 9.19 X NA NA 0 PE2 -NX_Q7RTT6 21688 188 9.32 X NA NA 0 PE5 -NX_Q7RTT9 58059 530 7.64 7 Cytoskeleton;Apical cell membrane;Cell membrane NA 10 PE1 -NX_Q7RTU0 17516 167 10.24 8 Nucleus NA 0 PE3 -NX_Q7RTU1 23309 214 11.33 2 Nucleus NA 0 PE2 -NX_Q7RTU3 29358 272 9.54 6 Nucleus NA 0 PE1 -NX_Q7RTU4 24132 235 11.21 17 Cytoplasm;Nucleus Camptosynpolydactyly, complex;Syndactyly, mesoaxial synostotic, with phalangeal reduction;Split-hand/foot malformation with long bone deficiency 3 0 PE1 -NX_Q7RTU5 29462 278 8.71 1 Nucleus NA 0 PE3 -NX_Q7RTU7 21596 201 10.17 8 Nucleus NA 0 PE3 -NX_Q7RTU9 192967 1775 5.27 15 Kinocilium;Cell surface;Stereocilium Deafness, autosomal recessive, 16;Deafness-infertility syndrome 0 PE2 -NX_Q7RTV0 12405 110 8.79 22 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q7RTV2 25722 222 7.74 6 Cytoplasm NA 0 PE1 -NX_Q7RTV3 38411 350 8.07 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q7RTV5 24857 226 9.07 9 NA NA 0 PE1 -NX_Q7RTW8 128533 1153 5.53 16 Apical cell membrane;Extracellular matrix Deafness, autosomal recessive, 22 0 PE1 -NX_Q7RTX0 93386 852 6.75 1 Cell membrane NA 7 PE1 -NX_Q7RTX1 93074 841 8.32 1 Cell membrane NA 7 PE2 -NX_Q7RTX7 54092 472 5.15 1 Flagellum membrane NA 6 PE1 -NX_Q7RTX9 56254 510 6.45 2 Cell membrane;Endoplasmic reticulum NA 12 PE2 -NX_Q7RTY0 44992 426 6.44 17 Golgi apparatus membrane;Cell membrane;Golgi apparatus Diabetes mellitus, non-insulin-dependent 12 PE1 -NX_Q7RTY1 55794 509 8.25 10 Nucleus;Cell junction;Cell membrane NA 12 PE1 -NX_Q7RTY3 29329 260 8.42 3 NA NA 0 PE2 -NX_Q7RTY5 35970 328 7.49 4 Secreted NA 0 PE2 -NX_Q7RTY7 125066 1134 8.67 12 Secreted NA 0 PE1 -NX_Q7RTY8 94415 843 8.84 3 Cell membrane NA 1 PE2 -NX_Q7RTY9 35078 318 9.36 16 Cell membrane NA 0 PE1 -NX_Q7RTZ1 62642 564 7.22 11 Secreted NA 0 PE1 -NX_Q7RTZ2 59590 530 7.81 8 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_Q7Z2D5 82983 763 9 1 Membrane NA 6 PE1 -NX_Q7Z2E3 40740 356 9.27 9 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Ataxia-oculomotor apraxia syndrome 0 PE1 -NX_Q7Z2F6 14454 126 4.9 16 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q7Z2G1 19618 175 10.69 X Chromosome;Nucleus membrane NA 0 PE1 -NX_Q7Z2H8 53076 476 6.54 5 Lysosome membrane;Cell membrane;Endoplasmic reticulum NA 11 PE1 -NX_Q7Z2K6 100231 904 7.2 9 Endoplasmic reticulum membrane;Nucleolus;Nucleus NA 9 PE1 -NX_Q7Z2K8 102399 1008 8.33 5 Cytoplasmic vesicle;Growth cone;Cell membrane NA 0 PE1 -NX_Q7Z2Q7 70301 622 9.02 5 Membrane NA 1 PE2 -NX_Q7Z2R9 10995 100 12.15 1 Secreted NA 0 PE5 -NX_Q7Z2T5 81747 733 8.11 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q7Z2V1 23111 217 6.41 16 NA NA 0 PE1 -NX_Q7Z2W4 101431 902 8.72 7 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q7Z2W7 127685 1104 6.91 2 Endoplasmic reticulum membrane;Membrane raft;Cell membrane NA 6 PE1 -NX_Q7Z2W9 22815 205 9.91 11 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q7Z2X4 28272 250 6.53 2 Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_Q7Z2X7 12090 111 4 X NA NA 0 PE1 -NX_Q7Z2Y5 178479 1582 5.93 X Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q7Z2Y8 279048 2422 6.12 11 Cytosol;Nucleus NA 0 PE1 -NX_Q7Z2Z1 210857 1910 9 15 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q7Z2Z2 125430 1120 5.66 15 Cytosol Shwachman-Diamond syndrome 2 0 PE1 -NX_Q7Z304 77556 686 5.05 9 Nucleus speckle;Cell membrane;Endoplasmic reticulum;Extracellular matrix NA 0 PE1 -NX_Q7Z309 26928 247 5.98 X Nucleoplasm;Nucleus NA 0 PE1 -NX_Q7Z333 302880 2677 6.83 9 Nucleolus;Nucleoplasm;Cytoplasm;Telomere;Axon;Nucleus;Cytoskeleton;Growth cone;Chromosome Amyotrophic lateral sclerosis 4;Spinocerebellar ataxia, autosomal recessive, 1 0 PE1 -NX_Q7Z340 77515 670 8.73 19 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q7Z353 77206 690 5.61 X Cytosol;Nucleus NA 0 PE1 -NX_Q7Z388 83756 723 8.41 8 Cytoplasmic vesicle;Endoplasmic reticulum;Membrane NA 12 PE1 -NX_Q7Z392 128881 1133 6.72 4 Nucleoplasm;cis-Golgi network;Golgi apparatus;Nucleus membrane Limb-girdle muscular dystrophy 2S 0 PE1 -NX_Q7Z398 48381 422 8.95 19 Cytoplasmic vesicle;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q7Z3B0 8625 74 9.82 5 Membrane NA 1 PE1 -NX_Q7Z3B1 38719 354 5.84 1 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q7Z3B3 121025 1105 9 17 Kinetochore;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q7Z3B4 55435 507 6.53 4 Nucleoplasm;Nuclear pore complex;Nucleus membrane NA 0 PE1 -NX_Q7Z3C6 94447 839 6.19 2 Endoplasmic reticulum membrane;Autophagosome membrane;trans-Golgi network membrane;Endoplasmic reticulum;Cytoplasmic vesicle;Late endosome membrane NA 6 PE1 -NX_Q7Z3D4 34538 306 5.62 5 Cytosol;Membrane NA 1 PE1 -NX_Q7Z3D6 66437 616 6.32 14 Mitochondrion;Cytosol;Mitochondrion matrix NA 0 PE1 -NX_Q7Z3E1 76227 657 6.19 3 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q7Z3E2 103687 898 5.94 10 Golgi apparatus NA 0 PE1 -NX_Q7Z3E5 91819 818 5.83 2 Cytosol;Cytoplasm;Nucleolus;Cilium basal body Joubert syndrome 30 0 PE1 -NX_Q7Z3F1 96919 870 6.42 2 Cytosol;Endosome;Nucleus;Membrane NA 17 PE1 -NX_Q7Z3G6 95615 844 7.12 3 Cytoplasmic vesicle;Golgi apparatus;Nucleus membrane NA 0 PE1 -NX_Q7Z3H0 49403 452 8.17 12 Cytosol;Nucleus NA 0 PE2 -NX_Q7Z3H4 49112 446 6.32 3 Cytoplasm;Nucleus NA 0 PE1 -NX_Q7Z3I7 61238 529 8.32 8 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q7Z3J2 109563 963 6.82 16 Mitochondrion;Cytoplasm;Membrane;Nucleus;Early endosome NA 1 PE1 -NX_Q7Z3J3 197289 1758 5.9 2 NA NA 0 PE1 -NX_Q7Z3K3 155344 1410 7.14 1 Nucleoplasm;Cytoplasm;Nucleus;Chromosome White-Sutton syndrome 0 PE1 -NX_Q7Z3K6 61437 550 4.42 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q7Z3Q1 51519 461 5.56 13 Cytosol;Endosome;Cytoskeleton;Cell membrane;Membrane NA 11 PE1 -NX_Q7Z3S7 127938 1137 5.18 12 Membrane Retinal cone dystrophy 4 1 PE1 -NX_Q7Z3S9 25835 236 5.44 1 Cytoplasm;Secreted NA 0 PE1 -NX_Q7Z3T1 34789 314 8.92 1 Cell membrane NA 7 PE2 -NX_Q7Z3T8 168903 1539 4.67 5 Cytosol;Cytoplasm;Cytoplasmic vesicle;Early endosome membrane NA 0 PE1 -NX_Q7Z3U7 190359 1717 5.72 12 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q7Z3V4 123098 1068 8.51 12 Mitochondrion;Nucleus speckle Kaufman oculocerebrofacial syndrome 0 PE1 -NX_Q7Z3V5 70792 609 8.71 19 Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_Q7Z3Y7 50567 464 5.33 17 Cytoplasm NA 0 PE1 -NX_Q7Z3Y8 49822 459 4.98 17 Cytoplasm NA 0 PE1 -NX_Q7Z3Y9 51911 468 4.86 17 NA NA 0 PE1 -NX_Q7Z3Z0 49318 450 5 17 Cytoplasmic vesicle;Cytoplasm Woolly hair autosomal recessive 3 0 PE1 -NX_Q7Z3Z2 22704 195 7.73 1 NA Leber congenital amaurosis 12 0 PE1 -NX_Q7Z3Z3 101089 882 9.56 22 Cytoplasm NA 0 PE1 -NX_Q7Z3Z4 96589 852 9.09 11 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 -NX_Q7Z401 209244 1863 7.07 15 Nucleolus;Nucleus NA 0 PE1 -NX_Q7Z402 83502 723 8.74 16 Cytoplasmic vesicle;Membrane NA 9 PE1 -NX_Q7Z403 90045 805 8.98 17 Endoplasmic reticulum membrane Epidermodysplasia verruciformis 10 PE1 -NX_Q7Z404 79208 712 9.16 19 Membrane NA 9 PE1 -NX_Q7Z406 227871 1995 5.52 19 Nucleoplasm Deafness, autosomal dominant, 4A;Peripheral neuropathy, myopathy, hoarseness, and hearing loss 0 PE1 -NX_Q7Z407 406000 3707 5.63 8 Cell membrane NA 2 PE1 -NX_Q7Z408 380039 3487 5.69 1 Cell membrane NA 1 PE1 -NX_Q7Z410 114021 1059 8.46 19 Cell membrane NA 1 PE1 -NX_Q7Z412 33898 305 5.94 22 Peroxisome membrane Peroxisome biogenesis disorder 7B;Peroxisome biogenesis disorder 7A;Peroxisome biogenesis disorder complementation group 8 1 PE1 -NX_Q7Z417 76121 695 8.7 17 Cytosol;Cytoplasm;Stress granule;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q7Z418 43671 384 6.6 10 Cell membrane Migraine with or without aura 13 4 PE1 -NX_Q7Z419 33697 303 7.62 6 Mitochondrion;Cytoplasm;Nucleolus;Mitochondrion membrane NA 1 PE1 -NX_Q7Z422 16997 152 8.92 1 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q7Z429 41203 371 5.21 8 Cytosol;Nucleolus;Membrane NA 7 PE1 -NX_Q7Z434 56528 540 5.36 20 Mitochondrion;Peroxisome;Mitochondrion outer membrane NA 1 PE1 -NX_Q7Z442 272514 2459 5.51 16 Membrane NA 12 PE1 -NX_Q7Z443 195894 1732 8.78 16 Cell membrane NA 12 PE1 -NX_Q7Z444 25287 233 6.1 X Cell membrane NA 0 PE1 -NX_Q7Z449 61987 544 8.63 4 Endoplasmic reticulum membrane;Microsome membrane;Cytoplasmic vesicle;Golgi apparatus;Nucleoplasm Spastic paraplegia 56, autosomal recessive 5 PE1 -NX_Q7Z460 169451 1538 9.14 2 Kinetochore;Cytoskeleton;Spindle;Centrosome;trans-Golgi network NA 0 PE1 -NX_Q7Z465 39713 357 5.26 1 Cytosol NA 0 PE1 -NX_Q7Z478 155236 1369 8.3 5 Cytosol;Cytoplasm NA 0 PE1 -NX_Q7Z494 150864 1330 6.31 3 Cilium Meckel syndrome 7;Nephronophthisis 3;Renal-hepatic-pancreatic dysplasia 1 0 PE1 -NX_Q7Z4B0 12600 112 9.98 18 Secreted NA 0 PE5 -NX_Q7Z4F1 76193 713 5.3 14 Coated pit;Nucleolus;Nucleus;Membrane NA 1 PE1 -NX_Q7Z4G1 9638 85 5.69 13 Cytoplasm;Nucleus NA 0 PE1 -NX_Q7Z4G4 53421 463 7.65 6 Nucleus NA 0 PE1 -NX_Q7Z4H3 23390 204 5.33 6 Nucleolus;Nucleus NA 0 PE1 -NX_Q7Z4H4 15865 148 11.81 22 Secreted NA 0 PE2 -NX_Q7Z4H7 108621 955 6.04 9 Nucleus speckle;Cytosol;Cytoskeleton;Microtubule organizing center;Spindle;Centrosome NA 0 PE1 -NX_Q7Z4H8 58572 507 8.42 11 Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum lumen NA 0 PE1 -NX_Q7Z4H9 28021 259 8.86 7 Cytoplasmic vesicle;Nucleus NA 0 PE2 -NX_Q7Z4I7 38916 341 8.44 2 Focal adhesion;Nucleus;Cell membrane Limb-girdle muscular dystrophy 2W 0 PE1 -NX_Q7Z4J2 32608 276 9.26 9 Membrane NA 1 PE5 -NX_Q7Z4K8 83424 759 7.99 1 Axon;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q7Z4L0 8129 72 12.08 14 Mitochondrion inner membrane NA 1 PE2 -NX_Q7Z4L5 150937 1316 6.53 2 Mitochondrion;Cilium axoneme Joubert syndrome 11;Short-rib thoracic dysplasia 4 with or without polydactyly;Nephronophthisis 12 0 PE1 -NX_Q7Z4L9 35480 309 8.79 8 Cytoskeleton;Centrosome NA 0 PE2 -NX_Q7Z4M0 29155 266 5.48 15 NA NA 0 PE1 -NX_Q7Z4N2 182178 1603 6.4 15 Cytosol;Nucleoplasm;Cell membrane Night blindness, congenital stationary, 1C 9 PE1 -NX_Q7Z4N8 61126 544 6.05 11 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q7Z4P5 46950 450 9.9 2 Secreted NA 0 PE1 -NX_Q7Z4Q2 74583 680 5.02 16 Cytosol;Nucleus NA 0 PE1 -NX_Q7Z4R8 20772 191 4.75 6 Secreted NA 0 PE1 -NX_Q7Z4S6 187179 1674 6.05 12 Cytosol;Cytoskeleton;Cell membrane Fibrosis of extraocular muscles, congenital, 1 0 PE1 -NX_Q7Z4S9 19279 175 9.18 2 NA NA 0 PE1 -NX_Q7Z4T8 51427 443 8.88 7 Late endosome membrane NA 1 PE1 -NX_Q7Z4T9 89955 767 8.73 3 Mitochondrion;Cytoplasm;Cilium axoneme NA 0 PE1 -NX_Q7Z4U5 16243 140 10.39 6 NA NA 0 PE2 -NX_Q7Z4V0 91836 828 9.49 10 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q7Z4V5 74317 671 7.11 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q7Z4W1 25913 244 8.33 17 Cytoskeleton;Nucleolus;Membrane Pentosuria 0 PE1 -NX_Q7Z4W2 16656 148 8.04 10 Secreted NA 0 PE1 -NX_Q7Z4W3 8247 81 8.57 21 NA NA 0 PE3 -NX_Q7Z4Y8 11037 100 9.91 22 Mitochondrion membrane NA 0 PE5 -NX_Q7Z553 107436 956 6.88 14 Cell membrane NA 0 PE1 -NX_Q7Z569 67305 592 5.64 12 Cytosol;Cytoplasm;Nucleus membrane NA 0 PE1 -NX_Q7Z570 136888 1209 8.19 2 Endoplasmic reticulum NA 0 PE2 -NX_Q7Z572 52207 469 6.74 1 Cytosol;Cytoplasmic vesicle NA 0 PE2 -NX_Q7Z589 141468 1322 9.37 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q7Z591 155139 1439 5.91 9 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q7Z5A4 32006 293 6.93 3 Secreted NA 0 PE2 -NX_Q7Z5A7 14301 132 9.32 22 Secreted NA 0 PE1 -NX_Q7Z5A8 14776 133 8.71 1 Secreted NA 0 PE2 -NX_Q7Z5A9 14901 133 8.49 3 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_Q7Z5B4 41092 369 5.04 11 Endoplasmic reticulum membrane;Golgi apparatus membrane NA 1 PE1 -NX_Q7Z5D8 22750 188 9.73 12 Nucleus NA 0 PE2 -NX_Q7Z5G4 15824 137 6.6 8 Golgi apparatus membrane NA 0 PE1 -NX_Q7Z5H3 76779 698 8.4 10 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q7Z5H4 40779 357 9.35 1 Cell membrane NA 7 PE2 -NX_Q7Z5H5 33557 301 9.58 19 Cell membrane NA 7 PE2 -NX_Q7Z5J1 34288 315 9.76 19 Cytoplasmic vesicle;Secreted NA 0 PE2 -NX_Q7Z5J4 203352 1906 9.03 17 Nucleoplasm;Cytoplasm;Nucleus Smith-Magenis syndrome 0 PE1 -NX_Q7Z5J8 162026 1434 8.39 2 Microtubule organizing center;Nucleus;Membrane NA 1 PE1 -NX_Q7Z5K2 132946 1190 5.27 10 Cytoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q7Z5L0 21534 202 4.9 17 Secreted NA 0 PE1 -NX_Q7Z5L2 87883 792 5.05 10 Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_Q7Z5L3 29468 287 5.5 2 Secreted NA 0 PE1 -NX_Q7Z5L4 19186 167 6.44 11 Mitochondrion outer membrane NA 0 PE1 -NX_Q7Z5L7 68976 613 6.51 1 Cytoplasm;Extracellular matrix NA 0 PE1 -NX_Q7Z5L9 61025 587 9 1 Nucleoplasm;Cytoplasm;Nucleus Immunodeficiency, common variable, 14 0 PE1 -NX_Q7Z5M5 125685 1100 9.28 15 Cytosol;Membrane NA 10 PE2 -NX_Q7Z5M8 40776 362 8.57 14 Nucleus NA 0 PE2 -NX_Q7Z5N4 242112 2213 5.99 7 Cytosol;Synapse;Cell membrane NA 1 PE1 -NX_Q7Z5P4 33655 300 9.14 4 Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 -NX_Q7Z5P9 805253 8384 4.97 12 Secreted NA 0 PE1 -NX_Q7Z5Q1 64944 589 6.78 4 Cytosol;Cytoplasm NA 0 PE1 -NX_Q7Z5Q5 100307 900 8.57 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q7Z5R6 73183 666 5.39 10 Cytosol;Lamellipodium;Focal adhesion;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q7Z5S9 37653 345 6.63 4 Mitochondrion;Membrane NA 10 PE2 -NX_Q7Z5U6 38989 358 6.07 3 Cytosol;Cell membrane NA 0 PE1 -NX_Q7Z5V6 47295 425 8.74 11 NA NA 0 PE1 -NX_Q7Z5W3 33200 292 6.22 12 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q7Z5Y6 44798 402 9.06 1 Secreted NA 0 PE2 -NX_Q7Z5Y7 47480 419 5.16 6 Cytoplasm;Endoplasmic reticulum;Nucleus speckle NA 0 PE1 -NX_Q7Z601 51106 462 9.52 17 Cytosol;Cell junction;Cell membrane NA 7 PE2 -NX_Q7Z602 35464 305 9.41 7 Cell membrane NA 7 PE2 -NX_Q7Z614 36178 316 8.94 16 Nucleoplasm;Cytoplasm;Early endosome membrane;Nucleus;Cell membrane NA 0 PE1 -NX_Q7Z624 36128 323 6.38 2 Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q7Z628 67740 596 9.31 10 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q7Z692 32638 300 5.74 19 Mitochondrion;Nucleolus;Nucleus;Membrane NA 1 PE2 -NX_Q7Z695 68982 626 9.03 7 Cytosol;Centrosome;Membrane NA 1 PE1 -NX_Q7Z698 47558 418 6.32 2 Cytosol;Cytoplasm;Secretory vesicle membrane;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q7Z699 50477 444 6.12 15 Caveola;Nucleus;Cell membrane Neurofibromatosis 1-like syndrome 0 PE1 -NX_Q7Z6A9 32834 289 6.09 3 Membrane NA 1 PE1 -NX_Q7Z6B0 49971 441 5.03 12 Nucleoplasm;trans-Golgi network membrane;Golgi apparatus;trans-Golgi network;Membrane NA 0 PE1 -NX_Q7Z6B7 124264 1085 6.36 12 Nucleus speckle Thyroid cancer, non-medullary, 2 0 PE1 -NX_Q7Z6E9 201564 1792 9.65 16 Nucleus speckle;Nucleolus;Centrosome;Chromosome NA 0 PE1 -NX_Q7Z6G3 43194 386 5.33 16 Axon;Cytoplasm;Cytoplasmic vesicle;Cell membrane;Dendrite NA 0 PE1 -NX_Q7Z6G8 138066 1248 5.93 12 Cajal body;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Dendritic spine;Postsynaptic density NA 0 PE1 -NX_Q7Z6I5 20418 190 5.23 3 Mitochondrion;Nucleoplasm;Cytosol;Cell membrane NA 0 PE2 -NX_Q7Z6I6 118582 1101 4.75 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q7Z6I8 20132 188 9.87 5 Nucleus NA 0 PE1 -NX_Q7Z6J0 93129 888 8.85 4 Cytoplasmic vesicle;Lamellipodium;Perinuclear region;Cytoskeleton;trans-Golgi network NA 0 PE1 -NX_Q7Z6J2 42623 395 9.01 12 Cytoplasmic vesicle;Postsynaptic cell membrane;Perinuclear region;Nucleus;Cell membrane NA 0 PE1 -NX_Q7Z6J4 74892 655 6.51 6 Cytoplasm;Early endosome membrane;Nucleus;Ruffle membrane;Early endosome;Cytoskeleton NA 0 PE1 -NX_Q7Z6J6 65065 570 8.62 15 Adherens junction;Centrosome;Golgi apparatus;Membrane NA 1 PE1 -NX_Q7Z6J8 43657 389 8.51 6 Cytoplasm NA 0 PE1 -NX_Q7Z6J9 58819 526 8.04 17 Nucleolus;Nucleus Pontocerebellar hypoplasia 5;Pontocerebellar hypoplasia 4;Pontocerebellar hypoplasia 2A 0 PE1 -NX_Q7Z6K1 45416 395 6.26 7 Nucleus NA 0 PE1 -NX_Q7Z6K3 46405 402 6.5 9 Cytoplasm;Microtubule organizing center NA 0 PE1 -NX_Q7Z6K4 12492 114 6.82 9 Nucleoplasm;Cytosol NA 0 PE2 -NX_Q7Z6K5 24943 226 5.57 15 Lamellipodium NA 0 PE1 -NX_Q7Z6L0 34945 340 4.64 16 Synaptic vesicle membrane;Dendritic spine;Synapse;Cell membrane;Axon;Presynaptic cell membrane;Postsynaptic density Convulsions, familial infantile, with paroxysmal choreoathetosis;Episodic kinesigenic dyskinesia 1;Seizures, benign familial infantile, 2 1 PE1 -NX_Q7Z6L1 129696 1165 5.83 7 Cytoplasmic vesicle;Autophagosome membrane;Lysosome membrane NA 0 PE1 -NX_Q7Z6M1 40565 372 5.8 9 Endosome membrane;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q7Z6M2 62630 555 6.95 14 Nucleoplasm NA 0 PE1 -NX_Q7Z6M3 38735 343 7.91 17 Cell membrane NA 1 PE1 -NX_Q7Z6M4 43958 381 4.71 2 Mitochondrion;Cytosol NA 0 PE1 -NX_Q7Z6P3 110850 1021 5 6 Cell membrane NA 0 PE1 -NX_Q7Z6R9 49578 452 8.41 6 Nucleus NA 0 PE2 -NX_Q7Z6V5 21046 191 6.34 6 Nucleoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q7Z6W1 20071 182 8.9 1 Membrane NA 1 PE1 -NX_Q7Z6W7 35434 309 5.34 22 NA NA 0 PE2 -NX_Q7Z6Z6 47912 429 6.31 22 NA NA 0 PE2 -NX_Q7Z6Z7 481891 4374 5.1 X Nucleoplasm;Cytoplasm;Nucleus;Cytosol Mental retardation, X-linked 17;Mental retardation, X-linked, syndromic, Turner type 0 PE1 -NX_Q7Z713 16872 158 5.75 4 Cytosol;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q7Z736 85317 793 8.07 17 Golgi apparatus NA 0 PE1 -NX_Q7Z739 63861 585 9.07 8 Cytosol;Cytoplasm;Nucleus membrane;Nucleus speckle NA 0 PE1 -NX_Q7Z745 180781 1585 5.9 5 Cytoplasm;Flagellum;Acrosome NA 0 PE1 -NX_Q7Z769 35066 313 9.29 12 Membrane NA 9 PE2 -NX_Q7Z794 61901 578 5.73 12 Cell membrane;Nucleus membrane NA 0 PE1 -NX_Q7Z7A1 268886 2325 5.44 9 Cytosol;Midbody ring;Centrosome NA 0 PE1 -NX_Q7Z7A3 36450 348 9.48 19 Cytoplasm NA 0 PE1 -NX_Q7Z7A4 64950 578 9.41 3 Cytosol;Cytoplasm;Cell membrane;Microtubule organizing center NA 0 PE1 -NX_Q7Z7B0 138109 1213 8.46 6 Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q7Z7B1 56882 504 9.31 17 Endoplasmic reticulum membrane;Cell membrane Glycosylphosphatidylinositol biosynthesis defect 11 12 PE1 -NX_Q7Z7B7 10610 95 9.72 20 Secreted NA 0 PE1 -NX_Q7Z7B8 10650 93 9.08 20 Secreted NA 0 PE2 -NX_Q7Z7C7 36908 330 4.97 7 Cytoplasm;Nucleus NA 0 PE1 -NX_Q7Z7C8 34262 310 6.03 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q7Z7D3 30878 282 5.2 1 Focal adhesion;Cell junction;Cell membrane NA 1 PE1 -NX_Q7Z7E8 46127 422 4.96 1 Nucleoplasm;Cytosol;Nucleus;Centrosome;Filopodium NA 0 PE1 -NX_Q7Z7F0 64845 614 8.84 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q7Z7F7 15128 128 11.15 1 Cytoplasmic vesicle;Mitochondrion;Golgi apparatus NA 0 PE1 -NX_Q7Z7G0 118642 1075 9.48 3 Secreted NA 0 PE1 -NX_Q7Z7G1 49554 428 9.11 4 Cytoplasmic vesicle NA 0 PE1 -NX_Q7Z7G2 18336 160 4.54 18 Synapse;Membrane NA 0 PE1 -NX_Q7Z7G8 448664 4022 6.03 8 Cell junction Cohen syndrome 0 PE1 -NX_Q7Z7H3 43900 387 5.28 2 Cytoplasm;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 -NX_Q7Z7H5 25943 227 8.41 7 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q7Z7H8 29283 261 9.63 17 Mitochondrion NA 0 PE1 -NX_Q7Z7J5 33784 298 9.35 3 Nucleus NA 0 PE1 -NX_Q7Z7J7 27007 247 6.85 3 Dendrite;Postsynaptic cell membrane;Nucleus;Golgi apparatus NA 4 PE1 -NX_Q7Z7J9 8553 78 5.22 1 Synaptosome;Postsynaptic density NA 0 PE1 -NX_Q7Z7K0 12490 106 8.89 3 Mitochondrion NA 0 PE1 -NX_Q7Z7K2 65124 595 9.12 7 Mitochondrion;Nucleus NA 0 PE1 -NX_Q7Z7K6 29946 275 9.78 17 Kinetochore;Spindle;Nucleus NA 0 PE1 -NX_Q7Z7L1 102836 901 8 17 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q7Z7L7 88169 766 5.43 9 Cytosol NA 0 PE1 -NX_Q7Z7L8 46114 435 10.04 11 Cytosol;Focal adhesion;Nucleus NA 0 PE1 -NX_Q7Z7L9 69547 614 7.04 15 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q7Z7M0 303100 2845 6.45 19 Membrane Carpenter syndrome 2 1 PE1 -NX_Q7Z7M1 104087 963 8.33 9 Membrane NA 7 PE2 -NX_Q7Z7M8 43396 397 8.66 19 Golgi apparatus membrane NA 1 PE1 -NX_Q7Z7M9 106266 940 9.51 2 Cytosol;Cytoplasmic vesicle;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q7Z7N9 23550 219 8.1 11 Nucleus speckle;Membrane NA 4 PE1 -NX_Q86SE5 32331 291 7.69 8 Nucleoplasm NA 0 PE1 -NX_Q86SE8 24152 214 4.97 8 Nucleolus;Nucleus NA 0 PE1 -NX_Q86SE9 29714 256 6.11 10 Nucleoplasm;Nucleolus;Nucleus;Centrosome NA 0 PE1 -NX_Q86SF2 75389 657 6.67 4 Nucleus;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q86SG2 34297 305 9.51 2 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q86SG3 64785 579 9.23 Y Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 0 PE1 -NX_Q86SG4 20403 172 9.89 15 NA NA 0 PE5 -NX_Q86SG5 11305 101 6.89 1 Cytoplasm NA 0 PE1 -NX_Q86SG6 74806 692 8.02 17 Cytoplasm;Cytoskeleton;Cilium Nephronophthisis 9;Renal-hepatic-pancreatic dysplasia 2 0 PE1 -NX_Q86SG7 23498 212 9.03 2 Secreted NA 0 PE1 -NX_Q86SH2 45873 424 9.31 4 Cytoplasm NA 0 PE1 -NX_Q86SH4 10756 94 9.57 20 Secreted NA 0 PE5 -NX_Q86SI9 15091 138 11.42 5 Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 -NX_Q86SJ2 57934 522 8.73 12 Cytosol;Nucleus;Cell membrane;Golgi apparatus NA 1 PE1 -NX_Q86SJ6 113824 1040 4.42 18 Desmosome;Cell membrane Hypotrichosis 6 1 PE1 -NX_Q86SK9 37610 330 9.65 4 Endoplasmic reticulum membrane NA 4 PE1 -NX_Q86SM5 31518 289 9.59 11 Cell membrane NA 7 PE2 -NX_Q86SM8 34286 312 8.49 11 Cell membrane NA 7 PE2 -NX_Q86SP6 80984 731 6.56 3 Cell membrane NA 7 PE2 -NX_Q86SQ0 142158 1253 7.06 3 Cytosol;Cytoplasm;Cell membrane;Membrane NA 0 PE1 -NX_Q86SQ3 50903 457 8.7 19 Cell membrane;Secreted NA 7 PE5 -NX_Q86SQ4 136695 1221 8.18 6 Cell membrane Lethal congenital contracture syndrome 9 7 PE1 -NX_Q86SQ6 60885 560 8.25 10 Membrane NA 7 PE1 -NX_Q86SQ7 82682 713 5.59 1 Centriole;Cytoplasm;Cell junction;Centrosome Senior-Loken syndrome 7;Bardet-Biedl syndrome 16 0 PE1 -NX_Q86SQ9 38657 333 8.56 1 Endoplasmic reticulum membrane;Cell membrane Developmental delay and seizures with or without movement abnormalities;Retinitis pigmentosa 59 0 PE1 -NX_Q86SR1 68992 603 8.84 5 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q86SS6 56188 491 6.79 11 Synaptic vesicle membrane NA 1 PE1 -NX_Q86SU0 62815 546 9.12 3 Cytosol;Cell membrane Deafness, autosomal recessive, 42 1 PE1 -NX_Q86SX3 54231 495 8.4 14 Cytosol;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q86SX6 16628 157 6.28 14 Mitochondrion;Mitochondrion matrix Anemia, sideroblastic, 3, pyridoxine-refractory;Spasticity, childhood-onset, with hyperglycinemia 0 PE1 -NX_Q86SY8 5770 53 5.43 14 NA NA 0 PE5 -NX_Q86SZ2 17983 158 8.88 14 cis-Golgi network;Endoplasmic reticulum Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 0 PE1 -NX_Q86T03 29470 277 9.24 14 Lysosome membrane;Late endosome membrane NA 2 PE1 -NX_Q86T13 51636 490 5.98 14 Endoplasmic reticulum;Golgi apparatus;Membrane NA 1 PE1 -NX_Q86T20 11550 102 6.49 6 Membrane NA 1 PE1 -NX_Q86T23 12396 111 4.45 1 NA NA 0 PE5 -NX_Q86T24 74484 672 4.97 X Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q86T26 46337 416 9.04 4 Cell membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q86T29 74376 641 9.32 12 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86T65 123499 1068 6.36 6 Cytosol;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q86T75 99433 865 4.75 1 Cytoplasm NA 0 PE2 -NX_Q86T82 110170 979 5.87 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q86T90 65373 577 8.36 18 Cytoplasmic vesicle;Nucleus speckle;Lipid droplet NA 0 PE1 -NX_Q86T96 68254 592 8.89 5 Cytosol;Endoplasmic reticulum membrane;Nucleus envelope NA 1 PE1 -NX_Q86TA1 25464 216 8.72 9 NA NA 0 PE1 -NX_Q86TA4 19528 180 7.57 2 NA NA 0 PE5 -NX_Q86TB3 237013 2170 5.14 18 Cytosol NA 0 PE1 -NX_Q86TB9 86850 770 6.22 11 Cytosol;Nucleus speckle;P-body;Nucleus;PML body NA 0 PE1 -NX_Q86TC9 145257 1320 6.33 10 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Sarcomere;Cytoskeleton;Z line Cardiomyopathy, familial restrictive 4;Nemaline myopathy 11;Cardiomyopathy, familial hypertrophic 22;Cardiomyopathy, dilated 1KK 0 PE1 -NX_Q86TD4 100788 932 4.34 16 Sarcoplasmic reticulum lumen NA 0 PE1 -NX_Q86TE4 38958 346 8.9 11 Cytosol;Nucleoplasm;Cell membrane;Secreted NA 0 PE1 -NX_Q86TG1 28835 271 5.45 2 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA 6 PE1 -NX_Q86TG7 80173 708 5.94 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q86TH1 104621 951 6.02 9 Cytoplasmic vesicle;Secreted Geleophysic dysplasia 1 0 PE1 -NX_Q86TI0 133084 1168 6.52 4 Nucleolus;Nucleus NA 0 PE1 -NX_Q86TI2 98263 863 6.01 19 Cytosol;Nucleus NA 0 PE1 -NX_Q86TI4 40731 376 8.54 7 NA NA 0 PE2 -NX_Q86TJ2 48470 420 7.93 4 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q86TJ5 60582 538 7.56 19 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q86TL0 52922 474 8.93 19 Mitochondrion matrix;Cytoplasm NA 0 PE1 -NX_Q86TL2 33187 294 8.28 3 Endoplasmic reticulum membrane;Cytosol NA 5 PE1 -NX_Q86TM3 71154 631 9.16 X Nucleus NA 0 PE1 -NX_Q86TM6 67685 617 6.47 11 Nucleoplasm;Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum NA 5 PE1 -NX_Q86TN4 27742 253 10.01 11 Mitochondrion NA 0 PE1 -NX_Q86TP1 50200 453 5.28 1 Cytosol;Cytoplasm;Focal adhesion;Nucleus Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 0 PE1 -NX_Q86TS7 6040 51 4.72 14 NA NA 0 PE5 -NX_Q86TS9 13664 123 10.27 14 Mitochondrion NA 0 PE1 -NX_Q86TU6 12089 105 9.74 14 NA NA 0 PE5 -NX_Q86TU7 67257 594 5.72 14 Mitochondrion;Nucleus NA 0 PE1 -NX_Q86TV6 94179 843 6.43 14 Cytosol;Cell membrane NA 0 PE1 -NX_Q86TW2 60577 530 8.84 14 Nucleoplasm;Secreted NA 0 PE1 -NX_Q86TX2 46277 421 6.9 14 Cytoplasm NA 0 PE1 -NX_Q86TY3 84173 774 4.26 14 Cell membrane;Membrane NA 1 PE1 -NX_Q86TZ1 59379 520 5.95 14 Centrosome NA 0 PE1 -NX_Q86U02 13541 117 6.01 14 Membrane NA 1 PE5 -NX_Q86U06 48731 439 9.86 14 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q86U10 60883 573 5.44 14 NA NA 0 PE1 -NX_Q86U17 46989 422 7.25 14 Secreted NA 0 PE1 -NX_Q86U28 16476 154 5.16 14 Mitochondrion Multiple mitochondrial dysfunctions syndrome 4 0 PE1 -NX_Q86U37 18828 167 9.74 14 NA NA 0 PE2 -NX_Q86U38 69438 636 6.86 14 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q86U42 32749 306 5.04 14 Cytoplasm;Nucleus;Nucleus speckle Oculopharyngeal muscular dystrophy 0 PE1 -NX_Q86U44 64474 580 5.98 14 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q86U70 46533 411 6.52 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86U86 192948 1689 6.46 3 Nucleoplasm;Nucleus Renal cell carcinoma 0 PE1 -NX_Q86U90 29328 279 8.9 1 Mitochondrion;Membrane NA 0 PE1 -NX_Q86UA1 78430 669 5.26 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86UA6 24770 219 4.86 17 PML body;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q86UB2 56774 503 9.15 13 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q86UB9 52291 458 9.53 11 Cytoplasmic vesicle;Peroxisome membrane;Mitochondrion membrane NA 6 PE1 -NX_Q86UC2 63687 560 5.53 6 Cytoplasmic vesicle;Cell membrane;Cytosol;Cilium;Cilium axoneme Ciliary dyskinesia, primary, 32 0 PE1 -NX_Q86UD0 42637 394 9.14 9 Apical cell membrane;Cytosol;Cytoplasm;Cell cortex;Nucleolus;Nucleus;Tight junction NA 0 PE1 -NX_Q86UD1 30688 273 6.39 11 Nucleus NA 0 PE1 -NX_Q86UD3 28504 253 8.58 5 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Early endosome membrane NA 2 PE1 -NX_Q86UD4 61725 541 8.94 19 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q86UD5 57564 537 6.28 4 Synaptic vesicle membrane;Apical cell membrane;Basolateral cell membrane;Nucleoplasm;Cell membrane;Endosome membrane;Flagellum membrane;Cell junction;Mitochondrion membrane NA 12 PE1 -NX_Q86UD7 28839 250 9.74 17 NA NA 0 PE2 -NX_Q86UE3 98405 836 8.94 19 Cytosol;Nucleus NA 0 PE1 -NX_Q86UE4 63837 582 9.33 8 Endoplasmic reticulum membrane;Nucleolus;Nucleus membrane;Endoplasmic reticulum;Perinuclear region;Tight junction NA 1 PE1 -NX_Q86UE6 58641 522 7.01 2 Postsynaptic cell membrane;Cell membrane NA 1 PE1 -NX_Q86UE8 87661 772 8.65 17 Cytoskeleton;Nucleus;Perinuclear region Mental retardation, autosomal dominant 57 0 PE1 -NX_Q86UF1 31538 283 6.85 7 Cytoskeleton;Cell membrane NA 4 PE1 -NX_Q86UF2 87900 777 5.09 7 Membrane NA 1 PE2 -NX_Q86UF4 34103 302 9.62 1 Cytoplasmic vesicle NA 0 PE2 -NX_Q86UG4 79232 719 8.93 5 Cell membrane NA 12 PE1 -NX_Q86UK0 293237 2595 7.89 2 Cytosol;Cytoplasmic vesicle;Nucleolus;Cell membrane;Membrane Ichthyosis, congenital, autosomal recessive 4A;Ichthyosis, congenital, autosomal recessive 4B 14 PE1 -NX_Q86UK5 147948 1308 6.53 4 Cell membrane;Cilium membrane;Nucleus;Mitochondrion;Cilium;Cilium basal body Ellis-van Creveld syndrome;Acrofacial dysostosis, Weyers type 1 PE1 -NX_Q86UK7 98637 904 8.75 16 Cytosol;Cell membrane NA 0 PE1 -NX_Q86UL3 52071 456 9.28 8 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q86UL8 158754 1455 5.95 7 Cytoplasm;Late endosome;Cell membrane;Synaptosome Nephrotic syndrome 15 0 PE1 -NX_Q86UN2 49065 441 9.25 17 Cell projection;Perikaryon;Membrane raft;Cell membrane NA 0 PE1 -NX_Q86UN3 46106 420 7.58 11 Axon;Dendrite;Perikaryon;Membrane raft;Cell membrane NA 0 PE1 -NX_Q86UN6 22815 197 6.31 X Cytoplasm NA 0 PE1 -NX_Q86UP0 87752 819 4.65 14 Cytosol;Nucleoplasm;Cell junction;Cell membrane;Microtubule organizing center NA 1 PE1 -NX_Q86UP2 156275 1357 5.52 14 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q86UP3 393730 3567 5.94 8 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q86UP6 68153 607 6.05 10 Cytoplasmic vesicle;Nucleolus;Secretory vesicle membrane NA 1 PE1 -NX_Q86UP8 107168 949 5.49 7 Nucleus NA 0 PE1 -NX_Q86UP9 25769 236 5.69 7 Cytoplasmic vesicle;Membrane NA 4 PE2 -NX_Q86UQ0 41189 364 8.61 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86UQ4 576159 5058 6.01 7 Cytoplasmic vesicle;Cytosol;Centrosome;Membrane NA 14 PE1 -NX_Q86UQ5 15623 136 7.12 18 Membrane NA 1 PE5 -NX_Q86UQ8 19019 179 9.46 7 Nucleus NA 0 PE1 -NX_Q86UR1 50933 476 6.06 9 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q86UR5 189073 1692 9.68 6 Synapse;Presynaptic cell membrane;Cell membrane Cone-rod dystrophy 7 0 PE1 -NX_Q86US8 160462 1419 6.66 17 Cytosol;Nucleolus;Telomere NA 0 PE1 -NX_Q86UT5 61032 571 6.24 11 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q86UT6 107616 975 7 11 Mitochondrion;Cell junction;Cell membrane;Mitochondrion outer membrane NA 0 PE1 -NX_Q86UT8 37974 332 8.48 11 Cytoplasm;Nucleus NA 0 PE1 -NX_Q86UU0 157129 1499 8.79 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86UU1 151162 1377 8.85 11 Nucleoplasm NA 0 PE1 -NX_Q86UU5 66699 652 10.3 19 NA NA 0 PE1 -NX_Q86UU9 12305 113 5.24 17 Secreted NA 0 PE1 -NX_Q86UV5 119032 1035 5.75 1 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus;Cytosol NA 0 PE1 -NX_Q86UV6 28547 250 5.84 7 NA NA 0 PE1 -NX_Q86UV7 28517 250 5.95 7 NA NA 0 PE2 -NX_Q86UW1 37735 340 8.89 3 Endoplasmic reticulum membrane;Cell membrane NA 7 PE1 -NX_Q86UW2 14346 128 4.58 15 Mitochondrion;Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_Q86UW6 198801 1770 5.11 4 Nucleoplasm;Cytoplasm;Centrosome;Cell membrane NA 0 PE1 -NX_Q86UW7 147735 1296 5.83 7 Cytoplasmic vesicle;Nucleoplasm;Cytoplasmic vesicle membrane;Synapse NA 0 PE1 -NX_Q86UW8 42801 402 9.12 19 Extracellular matrix NA 0 PE1 -NX_Q86UW9 67246 622 8.79 7 Nucleoplasm;Cytoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q86UX2 104576 942 8.47 10 Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 -NX_Q86UX6 54994 486 6.16 10 NA NA 0 PE1 -NX_Q86UX7 75953 667 6.53 11 Cytoplasmic vesicle;Podosome Leukocyte adhesion deficiency 3 0 PE1 -NX_Q86UY5 47458 434 9.04 8 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q86UY6 27194 237 7.06 11 Cytoplasm;Nucleus NA 0 PE1 -NX_Q86UY8 63420 548 8.46 12 Cytosol;Mitochondrion NA 0 PE1 -NX_Q86UZ6 64083 589 5.55 20 Nucleus NA 0 PE1 -NX_Q86V15 190069 1759 6.59 1 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86V20 93705 835 6.41 10 Nucleoplasm;Cytoskeleton;Nucleus;Chromosome NA 0 PE1 -NX_Q86V21 75144 672 5.86 12 Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q86V24 43884 386 6.11 12 Cell membrane NA 7 PE1 -NX_Q86V25 40450 355 10.02 1 Cytosol;Cytoplasm;Secreted NA 0 PE1 -NX_Q86V35 24453 215 4.56 22 Perinuclear region;trans-Golgi network membrane;Cell membrane NA 1 PE1 -NX_Q86V40 57676 505 9.03 2 Cell membrane NA 1 PE1 -NX_Q86V42 60104 546 6.12 13 Cytosol;Nucleus NA 0 PE1 -NX_Q86V48 120275 1076 8.67 1 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q86V59 48161 439 9.09 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q86V71 78152 674 9.5 19 Nucleus NA 0 PE2 -NX_Q86V81 26888 257 11.15 17 Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q86V85 49395 440 7.01 13 Cytoplasmic vesicle;Membrane NA 7 PE1 -NX_Q86V86 35891 326 5.75 22 Cytosol;Cytoplasm NA 0 PE1 -NX_Q86V87 82340 743 5.27 8 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q86V88 20109 176 5.95 14 Nucleoplasm NA 0 PE1 -NX_Q86V97 76138 674 5.74 13 NA NA 0 PE1 -NX_Q86VB7 125451 1156 5.61 12 Cell membrane;Secreted NA 1 PE1 -NX_Q86VD1 112881 984 8.11 3 Nucleus NA 0 PE1 -NX_Q86VD7 35409 318 10.08 19 Mitochondrion;Mitochondrion inner membrane NA 6 PE1 -NX_Q86VD9 63471 579 8.66 3 Endoplasmic reticulum membrane;Cytoplasmic vesicle NA 8 PE2 -NX_Q86VE0 42508 399 10.08 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86VE3 55833 508 5.17 X NA NA 0 PE1 -NX_Q86VE9 47009 423 7.88 5 Cytoplasmic vesicle;Perinuclear region;Nucleus;Cell membrane;Golgi apparatus NA 9 PE1 -NX_Q86VF2 137763 1251 7.51 1 Midbody ring;Nucleus;Z line NA 0 PE1 -NX_Q86VF5 38730 341 8.86 7 Endoplasmic reticulum membrane;Perinuclear region;Centrosome NA 3 PE1 -NX_Q86VF7 197074 1730 9.24 10 Centrosome NA 0 PE1 -NX_Q86VG3 25407 221 4.39 11 Cytosol NA 0 PE1 -NX_Q86VH2 160283 1401 6.9 9 Cytoskeleton;Cilium NA 0 PE1 -NX_Q86VH4 67217 590 9.12 2 Postsynaptic cell membrane;Cell membrane NA 1 PE1 -NX_Q86VH5 65896 581 9.28 10 Postsynaptic cell membrane;Cell membrane NA 1 PE1 -NX_Q86VI1 81678 746 5.44 16 Cytoplasmic vesicle;Secretory vesicle;Cell membrane NA 0 PE2 -NX_Q86VI3 184699 1631 7.34 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q86VI4 35123 317 9.05 8 Lysosome membrane;Golgi apparatus;Multivesicular body lumen;Cell membrane;Endomembrane system;Endosome membrane;Late endosome membrane;Multivesicular body membrane;Cell projection NA 4 PE1 -NX_Q86VK4 52113 478 5.86 14 Nucleus NA 0 PE1 -NX_Q86VL8 65085 602 8.63 17 Cell membrane;Endoplasmic reticulum NA 13 PE1 -NX_Q86VM9 106378 953 8.39 16 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q86VN1 43817 386 6.75 13 Endosome;Late endosome;Lysosome;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Membrane;Cell junction NA 0 PE1 -NX_Q86VP1 90877 789 5.3 7 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q86VP3 97702 889 6.15 14 Mitochondrion;Endoplasmic reticulum NA 0 PE1 -NX_Q86VP6 136376 1230 5.52 12 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q86VQ0 80554 697 7.31 6 Cytoskeleton;Centrosome;Cilium axoneme;Cilium basal body Leber congenital amaurosis 5 0 PE1 -NX_Q86VQ1 58024 547 9.54 7 Nucleolus NA 0 PE1 -NX_Q86VQ3 60404 553 4.81 18 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q86VQ6 70683 643 8.13 3 Cytoplasm;Nucleus;Microsome;Endoplasmic reticulum NA 0 PE1 -NX_Q86VR2 51396 466 4.83 17 Nucleoplasm;Cytosol;Nucleus membrane;Membrane NA 3 PE1 -NX_Q86VR7 91625 867 7.91 19 Nucleus;Membrane NA 1 PE1 -NX_Q86VR8 48507 437 10.66 11 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q86VS3 117349 1027 9.19 15 Cytosol NA 0 PE1 -NX_Q86VS8 83126 718 5.12 8 Cytosol;Cytoskeleton;Golgi apparatus;Microtubule organizing center NA 0 PE1 -NX_Q86VU5 28809 262 8.71 10 Cytosol;Cell membrane;Golgi apparatus;Membrane NA 1 PE1 -NX_Q86VV4 52211 465 9.15 5 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q86VV8 248630 2226 6.25 18 Centrosome;Cilium basal body Microcephaly, short stature, and polymicrogyria with or without seizures 0 PE1 -NX_Q86VW0 79348 696 4.99 2 Cytoskeleton NA 0 PE1 -NX_Q86VW1 64614 577 8.44 6 Cell membrane;Membrane NA 12 PE1 -NX_Q86VW2 63843 580 6.19 12 Sarcomere;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q86VX2 22540 200 5.69 20 Cytoplasmic vesicle NA 0 PE1 -NX_Q86VX9 72895 652 8.43 3 Cytosol NA 0 PE1 -NX_Q86VY4 45143 417 9.57 8 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q86VY9 54356 491 9.24 6 Membrane NA 2 PE1 -NX_Q86VZ1 40635 359 9.62 X Cell membrane NA 7 PE1 -NX_Q86VZ2 36338 330 7.53 3 NA NA 0 PE1 -NX_Q86VZ4 53311 500 6.04 6 Mitochondrion;Membrane NA 1 PE1 -NX_Q86VZ5 48617 413 8.66 10 Nucleoplasm;Cytosol;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA 5 PE1 -NX_Q86VZ6 27079 243 8.63 7 Nucleolus;Nucleus NA 0 PE1 -NX_Q86W10 59086 505 9.29 1 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_Q86W11 56364 494 6.24 18 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q86W24 124733 1093 6.18 11 Cytosol;Cytoplasm NA 0 PE1 -NX_Q86W25 118884 1043 5.43 19 NA NA 0 PE1 -NX_Q86W26 75032 655 6.81 11 Nucleoplasm;Cytoplasm;Nucleus membrane;Cell membrane NA 0 PE1 -NX_Q86W28 119430 1048 8.32 19 Cytoplasm NA 0 PE2 -NX_Q86W33 41053 373 5.72 3 Cytoplasmic vesicle;Membrane NA 7 PE1 -NX_Q86W34 41263 360 8.41 17 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q86W42 37535 341 7.12 16 Nucleoplasm;Nucleus speckle;Nucleus Beaulieu-Boycott-Innes syndrome 0 PE1 -NX_Q86W47 23949 210 6.29 12 Cytosol;Membrane NA 2 PE1 -NX_Q86W50 63621 562 8.08 17 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q86W54 23587 205 7.77 5 Cytosol;Nucleoplasm;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q86W56 111110 976 6.03 10 Mitochondrion matrix;Cytoplasm;Mitochondrion;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q86W67 23752 206 9.07 2 NA NA 0 PE2 -NX_Q86W74 25967 232 6.65 8 Cytosol;Membrane NA 1 PE1 -NX_Q86W92 114024 1011 5.4 12 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q86WA6 32543 291 9.2 6 Mitochondrion NA 0 PE1 -NX_Q86WA8 94617 852 6.88 16 Peroxisome matrix NA 0 PE1 -NX_Q86WA9 65299 606 7.02 17 Nucleoplasm;Cytoplasmic vesicle;Lysosome membrane;Cell membrane;Golgi apparatus NA 12 PE1 -NX_Q86WB0 55262 502 5.44 7 Nucleus;Nucleus membrane NA 0 PE1 -NX_Q86WB7 50270 457 7.46 6 Cell membrane NA 11 PE1 -NX_Q86WC4 37257 334 5.69 6 Cytosol;Cytoplasmic vesicle;Lysosome membrane;Nucleus Osteopetrosis, autosomal recessive 5 1 PE1 -NX_Q86WC6 17438 154 6.51 17 NA NA 0 PE1 -NX_Q86WD7 46557 417 9.58 14 Cytoplasm;Membrane;Secreted NA 0 PE1 -NX_Q86WG3 42120 371 4.54 19 Axon;Dendrite;Synapse;Mitochondrion envelope;Cytoplasm Cerebellar ataxia, cayman type 0 PE1 -NX_Q86WG5 208464 1849 6.62 11 Cytosol;Cytoplasm;Cytoskeleton;Membrane;Nucleoplasm Charcot-Marie-Tooth disease 4B2 0 PE1 -NX_Q86WH2 27562 238 7.02 12 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q86WI0 23777 220 8.39 X Membrane NA 3 PE2 -NX_Q86WI1 465734 4243 5.71 8 Membrane NA 1 PE1 -NX_Q86WI3 204595 1866 5.99 16 Cytoplasm;Centrosome NA 0 PE1 -NX_Q86WJ1 101000 897 6.45 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86WK6 55239 493 6.22 1 Perikaryon;Nucleoplasm;Cell membrane;Axon;Dendrite;Nucleus NA 1 PE1 -NX_Q86WK7 55250 504 8.11 3 Membrane NA 1 PE1 -NX_Q86WK9 39719 346 6.99 1 Cytosol;Cell membrane NA 7 PE1 -NX_Q86WN1 76942 690 5.23 5 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q86WN2 24414 208 8.75 9 Secreted NA 0 PE2 -NX_Q86WP2 53339 473 6.56 5 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Cell membrane NA 0 PE1 -NX_Q86WQ0 15876 139 5.77 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86WR0 24479 208 6.34 8 Nucleoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q86WR6 27182 236 9.65 17 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q86WR7 45802 435 6.74 10 Cytosol;Cell membrane NA 0 PE1 -NX_Q86WS3 17971 158 4.71 11 Secreted NA 0 PE1 -NX_Q86WS4 74505 652 8.21 12 NA NA 0 PE1 -NX_Q86WS5 38605 348 8.91 12 Membrane NA 1 PE1 -NX_Q86WT1 76136 665 5.11 2 Cilium NA 0 PE1 -NX_Q86WT6 57419 500 6.04 15 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q86WU2 54871 507 6.2 16 Mitochondrion;Cytosol NA 0 PE1 -NX_Q86WV1 41432 359 4.47 17 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q86WV5 13856 123 7.76 17 Nucleus;Telomere NA 0 PE1 -NX_Q86WV6 42193 379 6.6 5 Endoplasmic reticulum membrane;Cytoplasm;Perinuclear region;Cell membrane;Mitochondrion outer membrane STING-associated vasculopathy, infantile-onset 4 PE1 -NX_Q86WW8 8376 74 8.97 2 Mitochondrion Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 0 PE1 -NX_Q86WX3 15434 136 10.75 22 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q86WZ0 117175 1026 9.21 14 NA NA 0 PE1 -NX_Q86WZ6 92033 799 9.1 19 Nucleus;Cell membrane NA 0 PE1 -NX_Q86X02 53010 465 5.7 17 Cytosol NA 0 PE1 -NX_Q86X10 166799 1494 6.33 20 Nucleus speckle NA 0 PE1 -NX_Q86X19 23046 198 6.3 2 Cilium membrane;Cytoskeleton NA 4 PE1 -NX_Q86X24 45200 394 5.66 1 Nucleoplasm;Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_Q86X27 65167 583 8.86 1 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q86X29 71439 649 8.29 19 Cytosol;Nucleoplasm;Cell membrane NA 1 PE1 -NX_Q86X40 41912 367 8.18 15 Mitochondrion;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q86X45 54255 466 6.08 8 Cytoplasm;Cilium Ciliary dyskinesia, primary, 19 0 PE1 -NX_Q86X51 51894 503 10.15 X Nucleoplasm NA 0 PE1 -NX_Q86X52 91784 802 9.31 15 Golgi stack membrane;Secreted Temtamy preaxial brachydactyly syndrome 1 PE1 -NX_Q86X53 48984 443 4.68 8 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q86X55 65854 608 6.25 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q86X59 25393 251 10.38 17 NA NA 0 PE1 -NX_Q86X60 16617 149 5.54 1 NA NA 0 PE2 -NX_Q86X67 39688 352 7.11 10 Nucleus NA 0 PE2 -NX_Q86X76 35896 327 7.91 1 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q86X83 22745 199 6.24 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q86X95 52313 450 9.88 2 Nucleus speckle;Centrosome NA 0 PE1 -NX_Q86XA0 21469 190 4.91 17 Cytoplasm;Membrane Mental retardation, autosomal recessive 44 1 PE1 -NX_Q86XA9 222004 2040 6.14 14 NA NA 0 PE1 -NX_Q86XD5 35769 332 4.34 7 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q86XD8 80358 727 8.66 10 Golgi apparatus NA 0 PE2 -NX_Q86XE0 46399 403 6.63 11 Focal adhesion;Cell junction NA 0 PE1 -NX_Q86XE3 60711 530 8.35 8 Mitochondrion;Membrane NA 1 PE1 -NX_Q86XE5 35249 327 8.13 10 Mitochondrion Hyperoxaluria primary 3 0 PE1 -NX_Q86XF0 21620 187 7.75 3 Mitochondrion;Mitochondrion matrix;Mitochondrion inner membrane NA 0 PE1 -NX_Q86XF7 26763 245 9.83 19 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q86XG9 40546 351 4.95 1 Cytoplasm NA 0 PE5 -NX_Q86XH1 95341 822 9.48 2 Flagellum axoneme;Nucleus NA 0 PE1 -NX_Q86XI2 130960 1143 6.43 7 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q86XI6 32695 285 5.86 8 Cytosol NA 0 PE1 -NX_Q86XI8 70073 627 8.92 19 Nucleus NA 0 PE1 -NX_Q86XJ0 38496 344 8.98 10 Nucleoplasm;Membrane NA 4 PE1 -NX_Q86XJ1 75214 694 9.67 12 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q86XK2 103585 927 6.53 2 Nucleus;Chromosome NA 0 PE1 -NX_Q86XK3 28262 245 6.06 10 Nucleus NA 0 PE1 -NX_Q86XK7 41811 387 4.59 X Cytoplasmic vesicle;Cytosol;Membrane NA 1 PE1 -NX_Q86XL3 104114 938 6.66 12 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cell membrane Microcephaly 16, primary, autosomal recessive 1 PE1 -NX_Q86XM0 90468 798 7.04 19 Flagellum membrane NA 1 PE1 -NX_Q86XN6 87716 746 9.22 19 Nucleus NA 0 PE1 -NX_Q86XN7 95698 944 9.06 13 Cytosol;Nucleus NA 0 PE1 -NX_Q86XN8 64883 651 5.19 19 Cytoplasm;Nucleus NA 0 PE1 -NX_Q86XP0 91952 818 5.33 15 Cytosol;Membrane NA 0 PE1 -NX_Q86XP1 134866 1220 6.11 13 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q86XP3 102975 938 6.54 17 Cajal body;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q86XP6 20487 184 7.03 2 Secreted NA 0 PE1 -NX_Q86XQ3 46422 398 5.88 5 Flagellum membrane NA 6 PE1 -NX_Q86XR2 77413 697 8.99 19 NA NA 0 PE1 -NX_Q86XR5 16689 153 8.83 14 Cytosol;Synapse;Nucleolus;Cell junction;Cell membrane NA 1 PE1 -NX_Q86XR7 26916 235 4.99 5 Golgi apparatus;Cytoplasm;Early endosome membrane;Endoplasmic reticulum;Late endosome membrane;Cell membrane NA 0 PE1 -NX_Q86XR8 57089 500 9.35 11 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Centrosome Mosaic variegated aneuploidy syndrome 2 0 PE1 -NX_Q86XS5 44144 388 6.14 11 Secreted NA 0 PE1 -NX_Q86XS8 46405 419 9.12 5 Cytoplasm;Membrane NA 1 PE1 -NX_Q86XT2 27730 251 9.2 7 Cytoplasmic vesicle;Late endosome membrane NA 0 PE1 -NX_Q86XT4 54774 487 7.28 7 Cytoplasm NA 0 PE1 -NX_Q86XT9 25724 240 8.81 16 Cell membrane NA 1 PE1 -NX_Q86XU0 67996 584 9.3 19 Nucleus;Centrosome NA 0 PE1 -NX_Q86XW9 36856 330 4.82 3 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q86XX4 443214 4008 5.32 4 Nucleolus;Cell membrane Fraser syndrome 1 1 PE1 -NX_Q86XZ4 59545 545 9.01 12 Cytosol;Cytoplasm NA 0 PE1 -NX_Q86Y01 67368 620 9.67 12 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q86Y07 58141 508 8.97 2 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Endoplasmic reticulum;Mitochondrion membrane NA 1 PE1 -NX_Q86Y13 138604 1208 6.45 3 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q86Y22 51944 540 6.88 5 Cell membrane NA 1 PE1 -NX_Q86Y25 64847 554 8.36 5 Cytosol;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q86Y26 120314 1132 5.32 15 Cytoplasm;Nucleus NA 0 PE1 -NX_Q86Y27 4711 43 4.58 13 Secreted NA 0 PE2 -NX_Q86Y28 4230 39 4.25 21 Secreted NA 0 PE2 -NX_Q86Y29 12112 109 8.59 21 Secreted NA 0 PE2 -NX_Q86Y30 12114 109 9.02 21 Secreted NA 0 PE2 -NX_Q86Y33 57335 519 8.76 5 NA NA 0 PE1 -NX_Q86Y34 60861 549 9.01 16 Cell membrane NA 7 PE1 -NX_Q86Y37 41064 369 5.08 10 Nucleoplasm NA 0 PE1 -NX_Q86Y38 107569 959 9.32 16 Golgi apparatus membrane;Secreted Pseudoxanthoma elasticum;Desbuquois dysplasia 2 1 PE1 -NX_Q86Y39 14852 141 8.95 19 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency 2 PE1 -NX_Q86Y46 58923 540 6.93 12 NA NA 0 PE1 -NX_Q86Y56 93521 855 5.98 7 Nucleoplasm;Cytoplasm;Cytosol;Cytoplasmic granule Ciliary dyskinesia, primary, 18 0 PE1 -NX_Q86Y78 19118 171 5.69 2 Synaptosome;Secreted;Cytosol;Cytoplasm;Cell membrane;Membrane raft NA 0 PE1 -NX_Q86Y79 22937 214 10.59 9 NA NA 0 PE1 -NX_Q86Y82 31642 276 5.45 1 Endosome membrane;Golgi apparatus;Nucleoplasm;Early endosome membrane;Endomembrane system;Cytoplasmic vesicle;Golgi apparatus membrane;Recycling endosome membrane NA 1 PE1 -NX_Q86Y91 94223 864 9.01 17 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q86Y97 52113 462 9.9 19 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q86YA3 236602 2104 5.81 4 Cytosol;Membrane NA 1 PE1 -NX_Q86YB7 31126 292 9.03 1 Mitochondrion NA 0 PE1 -NX_Q86YB8 53543 467 8.25 1 Endoplasmic reticulum membrane NA 0 PE1 -NX_Q86YC2 131295 1186 6.03 16 Nucleoplasm;Nucleus Pancreatic cancer 3;Breast cancer;Fanconi anemia complementation group N 0 PE1 -NX_Q86YC3 76366 692 5.75 3 Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 -NX_Q86YD1 46869 416 10.54 19 Perinuclear region;Nucleus;Cell membrane NA 0 PE1 -NX_Q86YD3 39285 366 7.06 11 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Secreted NA 1 PE1 -NX_Q86YD5 37419 345 4.74 11 Cell junction;Cell membrane NA 1 PE1 -NX_Q86YD7 49793 464 9.71 12 NA NA 0 PE1 -NX_Q86YE8 78181 665 9.32 19 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q86YF9 98664 867 5.8 13 Nucleoplasm;Cytoplasm;Microtubule organizing center;Centriole;Cytosol;Nucleus;Cilium basal body NA 0 PE1 -NX_Q86YG4 48951 428 5.68 2 NA NA 0 PE1 -NX_Q86YH2 61584 543 7.62 22 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86YH6 44129 399 8.43 6 Mitochondrion;Cytosol Coenzyme Q10 deficiency, primary, 3 0 PE1 -NX_Q86YI8 33582 300 7.89 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86YJ5 37772 346 9.36 12 Lysosome membrane;Golgi apparatus membrane NA 2 PE1 -NX_Q86YJ6 54116 484 6.07 2 Secreted NA 0 PE1 -NX_Q86YJ7 70205 626 6.47 17 Cytoplasmic vesicle;Late endosome;Cell membrane;Early endosome NA 0 PE1 -NX_Q86YL5 20403 185 5.76 8 Cytosol;Cytoplasmic vesicle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q86YL7 16698 162 4.37 1 Apical cell membrane;Basolateral cell membrane;Cytosol;Invadopodium;Microvillus membrane;Lamellipodium membrane;Ruffle membrane;Membrane;Filopodium membrane;Membrane raft NA 1 PE1 -NX_Q86YM7 40277 354 5.33 5 Cytosol;Cytoplasm;Synapse;Dendritic spine;Postsynaptic density NA 0 PE1 -NX_Q86YN1 27031 238 9.48 9 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cytoskeleton NA 4 PE1 -NX_Q86YN6 113222 1023 4.94 5 Nucleus NA 0 PE1 -NX_Q86YP4 68063 633 9.95 19 Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_Q86YQ2 19456 179 5.33 20 Secreted NA 0 PE5 -NX_Q86YQ8 63108 564 5.66 12 NA NA 0 PE1 -NX_Q86YR5 74510 675 6.1 9 Endoplasmic reticulum membrane;Golgi apparatus;Cytosol;Cell membrane;Nucleoplasm;Golgi apparatus membrane NA 0 PE1 -NX_Q86YR6 66394 584 6.32 21 Cell membrane NA 0 PE2 -NX_Q86YR7 126993 1114 6 3 Cytosol;Cell membrane Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_Q86YS3 71928 637 4.78 17 Endosome;Cleavage furrow;Midbody;Cytoplasmic vesicle;Spindle;Recycling endosome membrane;Centrosome NA 0 PE1 -NX_Q86YS6 23339 212 5.44 3 trans-Golgi network membrane;Golgi apparatus;Phagosome;Cell membrane;trans-Golgi network;Phagosome membrane NA 0 PE1 -NX_Q86YS7 110447 1000 5.47 12 Ruffle;Cytosol;Cell cortex;Cell membrane;Microtubule organizing center;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q86YT5 63062 568 8.52 17 Nucleoplasm;Cell membrane;Membrane Epileptic encephalopathy, early infantile, 25 12 PE1 -NX_Q86YT6 110136 1006 6.47 18 Cytoplasmic vesicle;Cytoplasm;Centriolar satellite;Cell membrane;Nucleus membrane Left ventricular non-compaction 7 0 PE1 -NX_Q86YT9 44339 394 6.68 11 Cell junction;Cell membrane NA 1 PE1 -NX_Q86YV0 111898 1011 9.03 19 Cytoplasm;Cell cortex NA 0 PE1 -NX_Q86YV5 149624 1406 6.83 8 Nucleoplasm;Cytoplasm;Cytosol;Focal adhesion;Nucleus;Centrosome NA 0 PE1 -NX_Q86YV6 44508 388 5.89 6 NA NA 0 PE1 -NX_Q86YV9 82975 775 5.92 10 Cytosol;Microsome membrane;Early endosome membrane;Lysosome membrane Hermansky-Pudlak syndrome 6 0 PE1 -NX_Q86YW0 70411 608 9.14 12 Perinuclear region;Nucleus Spermatogenic failure 17 0 PE1 -NX_Q86YW5 32679 311 5.7 6 Cytoplasm;Cell membrane NA 1 PE1 -NX_Q86YW7 14232 130 8 14 Secreted NA 0 PE1 -NX_Q86YW9 240120 2145 7.97 3 Nucleolus;Nucleus NA 0 PE1 -NX_Q86YZ3 282390 2850 10.05 1 Mitochondrion;Cytoplasmic granule NA 0 PE1 -NX_Q86Z02 130843 1210 8.48 1 Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Centrosome NA 0 PE1 -NX_Q86Z14 119808 1044 9.28 4 Cell membrane NA 1 PE1 -NX_Q86Z20 58629 511 6.86 5 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus membrane NA 0 PE1 -NX_Q86Z23 24909 238 8.41 12 Secreted NA 0 PE1 -NX_Q8HWS3 102461 928 6.11 6 Nucleolus;Nucleus Mitchell-Riley syndrome 0 PE1 -NX_Q8IU53 8607 76 10.35 10 NA NA 0 PE4 -NX_Q8IU54 21898 200 9.08 19 Secreted NA 0 PE1 -NX_Q8IU57 57653 520 4.89 1 Cytosol;Membrane NA 1 PE1 -NX_Q8IU60 48423 420 8.21 5 Cytosol;Nucleoplasm;P-body;Nucleus;Cell junction NA 0 PE1 -NX_Q8IU68 81641 726 9.49 17 Endoplasmic reticulum membrane;Golgi apparatus Epidermodysplasia verruciformis 8 PE1 -NX_Q8IU80 90000 811 6.25 22 Cell membrane Iron-refractory iron deficiency anemia 1 PE1 -NX_Q8IU81 61688 584 8.52 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IU85 42914 385 6.77 10 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8IU89 46316 383 7.63 15 Nucleoplasm;Nucleus membrane Ichthyosis, congenital, autosomal recessive 9 6 PE1 -NX_Q8IU99 38264 346 8.53 10 Endoplasmic reticulum membrane;Cell membrane NA 4 PE1 -NX_Q8IUA0 27824 241 8.43 20 Secreted NA 0 PE1 -NX_Q8IUA7 184362 1624 6.49 17 Endoplasmic reticulum;Membrane NA 14 PE1 -NX_Q8IUB2 24687 231 7.58 20 Secreted NA 0 PE2 -NX_Q8IUB3 8325 73 8.82 20 Secreted NA 0 PE2 -NX_Q8IUB5 10386 93 8.41 20 Secreted NA 0 PE2 -NX_Q8IUB9 9008 90 8.45 21 NA NA 0 PE2 -NX_Q8IUC0 18320 172 8.54 21 NA NA 0 PE1 -NX_Q8IUC1 17085 163 8.32 21 NA NA 0 PE1 -NX_Q8IUC2 6826 63 7.6 21 NA NA 0 PE1 -NX_Q8IUC3 9288 87 8.57 21 NA NA 0 PE1 -NX_Q8IUC4 76993 686 6.35 19 Perinuclear region NA 0 PE1 -NX_Q8IUC6 76422 712 5.24 19 Nucleolus;Cytosol;Cell membrane;Nucleus;Autophagosome;Mitochondrion Encephalopathy, acute, infection-induced, Herpes-specific, 6 0 PE1 -NX_Q8IUC8 64051 556 6.41 2 Golgi apparatus membrane NA 1 PE1 -NX_Q8IUD2 128086 1116 5.72 12 Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Golgi apparatus membrane;Membrane NA 0 PE1 -NX_Q8IUD6 47888 432 6.37 17 Cytoplasmic vesicle;Cytoplasm Macrocephaly, macrosomia, facial dysmorphism syndrome 0 PE1 -NX_Q8IUE0 20814 185 9.84 Y Nucleus NA 0 PE1 -NX_Q8IUE1 26675 241 9.13 X Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IUE6 13995 130 10.88 1 Nucleus;Chromosome NA 0 PE1 -NX_Q8IUF1 44034 395 4.79 2 NA NA 0 PE1 -NX_Q8IUF8 52800 465 6.23 3 Nucleolus;Nucleus NA 0 PE1 -NX_Q8IUG1 18184 177 5.53 17 NA NA 0 PE2 -NX_Q8IUG5 285215 2567 6.45 22 Nucleoplasm;Cytoplasm;Sarcomere;Nucleus;Centrosome Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 0 PE1 -NX_Q8IUH2 32109 290 9.18 2 Secreted NA 0 PE1 -NX_Q8IUH3 53502 476 6.74 2 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8IUH4 70861 622 8.39 11 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Golgi apparatus membrane NA 6 PE1 -NX_Q8IUH5 72640 632 7.29 12 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Golgi apparatus membrane;Presynaptic cell membrane;Golgi apparatus NA 6 PE1 -NX_Q8IUH8 74503 684 6.28 17 Endoplasmic reticulum membrane;Membrane NA 9 PE1 -NX_Q8IUI4 27226 249 4.8 16 NA NA 0 PE5 -NX_Q8IUI8 49766 442 5.01 17 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8IUK5 55760 500 5.49 17 Cytoplasm;Cell membrane;Tight junction;Secreted NA 1 PE1 -NX_Q8IUK8 24084 224 8.8 18 Secreted NA 0 PE1 -NX_Q8IUL8 126291 1156 8.63 19 Extracellular matrix NA 0 PE1 -NX_Q8IUM7 87117 802 4.53 11 Nucleus NA 0 PE1 -NX_Q8IUN9 35446 316 5.66 17 Membrane NA 1 PE1 -NX_Q8IUQ0 40788 354 6.68 8 Clathrin-coated vesicle;Early endosome membrane;trans-Golgi network membrane NA 0 PE1 -NX_Q8IUQ4 31123 282 6.35 16 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q8IUR0 20783 188 9.69 19 Cytoplasmic vesicle;cis-Golgi network;Endoplasmic reticulum NA 0 PE1 -NX_Q8IUR5 98847 882 9.05 12 Cytosol;Nucleoplasm;Membrane NA 9 PE1 -NX_Q8IUR6 72149 639 4.76 5 Nucleus NA 0 PE1 -NX_Q8IUR7 75509 673 6.28 3 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8IUS5 42324 362 8.64 1 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q8IUW3 46179 424 5.35 16 Nucleoplasm;Mitochondrion;Cytosol NA 0 PE1 -NX_Q8IUW5 29340 271 8.57 4 Cytoskeleton;Cell membrane NA 1 PE1 -NX_Q8IUX1 25943 230 8.96 11 Mitochondrion;Mitochondrion membrane NA 4 PE1 -NX_Q8IUX4 45020 373 6.85 22 Cytoplasm;P-body NA 0 PE1 -NX_Q8IUX7 130929 1158 5.05 7 Secreted;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm;Nucleus Ehlers-Danlos syndrome, classic-like, 2 0 PE1 -NX_Q8IUX8 61317 553 8.45 X Basement membrane NA 0 PE1 -NX_Q8IUY3 40249 354 8.73 15 Cytosol;Nucleus speckle;Endoplasmic reticulum membrane;Nucleolus;Cell membrane NA 1 PE1 -NX_Q8IUZ0 78894 686 7.94 15 Cytoskeleton NA 0 PE1 -NX_Q8IUZ5 49711 450 6.28 5 Mitochondrion Phosphohydroxylysinuria 0 PE1 -NX_Q8IV01 46537 421 5.37 11 Synaptic vesicle membrane NA 1 PE1 -NX_Q8IV03 24583 231 4.98 9 Nucleolus;Nucleus NA 0 PE1 -NX_Q8IV04 49712 446 9.03 11 Nucleus NA 0 PE1 -NX_Q8IV08 54705 490 6.02 19 Endoplasmic reticulum membrane Spinocerebellar ataxia 46 1 PE1 -NX_Q8IV13 48406 435 7.28 5 Nucleus speckle NA 0 PE2 -NX_Q8IV16 19806 184 4.71 8 Apical cell membrane;Basolateral cell membrane;Cell membrane Hyperlipoproteinemia 1D 0 PE1 -NX_Q8IV20 47780 430 6.64 13 Peroxisome Rheumatoid arthritis systemic juvenile 0 PE1 -NX_Q8IV31 23729 216 4.7 7 Focal adhesion;Cell membrane;Membrane NA 1 PE1 -NX_Q8IV32 49648 467 11.8 3 Nucleus membrane NA 0 PE1 -NX_Q8IV33 147735 1275 6.18 5 NA NA 0 PE1 -NX_Q8IV35 79295 697 8.76 3 NA NA 0 PE2 -NX_Q8IV36 88745 788 5.69 17 Cytosol;Cytoplasm;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 -NX_Q8IV38 49299 441 5.88 7 Cytosol;Cytoplasm;Nucleus;Cilium;Nucleoplasm NA 0 PE1 -NX_Q8IV42 39527 348 8.62 10 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_Q8IV45 57818 518 6.21 6 Cytoplasm;Centrosome;Membrane NA 1 PE1 -NX_Q8IV48 40064 349 6.29 8 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_Q8IV50 23463 215 5.27 15 Mitochondrion;Nucleus NA 0 PE1 -NX_Q8IV53 87065 801 5.46 19 Cytosol;Clathrin-coated vesicle NA 0 PE1 -NX_Q8IV56 13715 129 9.64 7 Cytoplasmic vesicle;Cell junction NA 0 PE1 -NX_Q8IV61 78332 690 6.33 2 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q8IV63 52881 474 9.21 19 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q8IV76 87428 773 4.96 X Nucleus speckle;Nucleus NA 0 PE1 -NX_Q8IV77 65999 575 5.4 11 Membrane NA 6 PE1 -NX_Q8IVA1 14547 136 4.67 19 Cytoplasmic vesicle;Nucleus speckle NA 0 PE1 -NX_Q8IVB4 72565 645 5.8 3 Late endosome membrane Autism 16 13 PE1 -NX_Q8IVB5 36563 337 8.8 1 Cytosol NA 0 PE1 -NX_Q8IVC4 48272 421 9.05 19 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q8IVD9 40822 361 5.16 7 Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q8IVE0 33334 287 10.84 1 NA NA 0 PE5 -NX_Q8IVE3 168229 1493 7.5 2 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Lamellipodium;Cytoskeleton NA 0 PE1 -NX_Q8IVF1 93890 878 8.6 10 NA NA 0 PE2 -NX_Q8IVF2 616629 5795 5.2 14 Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q8IVF4 514841 4471 5.64 12 Cilium axoneme NA 0 PE1 -NX_Q8IVF5 190103 1701 6.8 6 Nucleolus;Nucleoplasm;Cytoplasm;Cytosol;Filopodium;Lamellipodium;Growth cone NA 0 PE1 -NX_Q8IVF6 115597 992 7.92 9 NA NA 0 PE2 -NX_Q8IVF7 117213 1028 6.23 12 Cytosol;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q8IVG5 184533 1584 8.25 7 Cytosol;Early endosome Ataxia-pancytopenia syndrome 0 PE1 -NX_Q8IVG9 2687 24 9.49 MT Cytoplasm;Secreted NA 0 PE1 -NX_Q8IVH2 73488 680 5.97 6 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IVH4 46538 418 9.37 4 Cytosol;Mitochondrion Methylmalonic aciduria type cblA 0 PE1 -NX_Q8IVH8 101316 894 7.38 2 Centrosome NA 0 PE1 -NX_Q8IVI9 57660 506 9.08 2 Cytoplasmic vesicle;Nucleus speckle;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 -NX_Q8IVJ1 54901 513 5.12 1 Mitochondrion;Cell membrane NA 10 PE1 -NX_Q8IVJ8 18525 170 10.7 3 Membrane NA 1 PE2 -NX_Q8IVK1 5018 47 9.3 12 NA NA 0 PE5 -NX_Q8IVL0 255648 2385 8.92 12 Cytosol;Nucleus membrane;Nucleus outer membrane NA 0 PE1 -NX_Q8IVL1 268167 2488 9.13 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IVL5 80984 708 5.48 3 Sarcoplasmic reticulum;Endoplasmic reticulum;Golgi apparatus Myopia, high, with cataract and vitreoretinal degeneration 0 PE1 -NX_Q8IVL6 81837 736 5.93 12 Cytosol;Nucleolus;Cell membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q8IVL8 42529 374 6.6 2 Apical cell membrane NA 0 PE1 -NX_Q8IVM0 35822 306 6.2 3 Cytosol;Cytoplasm Deafness, autosomal dominant, 44 0 PE1 -NX_Q8IVM7 18094 164 9.29 13 NA NA 0 PE5 -NX_Q8IVM8 62169 553 8.4 11 Basolateral cell membrane NA 12 PE1 -NX_Q8IVN3 8911 82 9.87 3 Nucleus NA 0 PE1 -NX_Q8IVN8 29610 264 7.71 8 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_Q8IVP5 17178 155 8.67 X Mitochondrion outer membrane NA 3 PE1 -NX_Q8IVP9 45956 402 8.71 19 Nucleus NA 0 PE1 -NX_Q8IVQ6 31385 265 8.81 9 Cytosol;Golgi apparatus;Membrane NA 4 PE1 -NX_Q8IVS2 42962 390 8.97 22 Mitochondrion NA 0 PE1 -NX_Q8IVS8 55253 523 6.25 3 Mitochondrion;Cytoplasm;Cytosol;Golgi apparatus D-glyceric aciduria 0 PE1 -NX_Q8IVT2 75357 679 6.36 19 Focal adhesion;Cell cortex;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q8IVT5 102160 923 8.94 17 Endoplasmic reticulum membrane;Cytoplasm;Cell membrane;Ruffle membrane;Membrane NA 0 PE1 -NX_Q8IVU1 86724 814 7.58 15 Membrane NA 1 PE1 -NX_Q8IVU3 115126 1022 8.22 4 Cytosol;Nucleus NA 0 PE1 -NX_Q8IVU9 23883 208 4.36 10 Nucleoplasm;Cytoplasm;Cytosol;Flagellum;Centrosome NA 0 PE1 -NX_Q8IVV2 235677 2067 5.38 18 Stereocilium Deafness, autosomal recessive, 77 0 PE1 -NX_Q8IVV7 33514 300 9.26 17 Cytosol NA 0 PE1 -NX_Q8IVV8 23240 208 5.43 20 Cell membrane NA 3 PE2 -NX_Q8IVW1 19388 177 9.85 17 Golgi apparatus NA 0 PE1 -NX_Q8IVW4 67514 592 9.35 5 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q8IVW6 60637 561 7.05 15 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IVW8 58044 549 9.43 17 Membrane NA 11 PE1 -NX_Q8IVY1 12024 113 5.46 1 Recycling endosome;Membrane;Nucleolus;Cell membrane;Early endosome NA 1 PE1 -NX_Q8IW00 36146 320 9.88 10 Cytoplasmic vesicle;Nucleus;Cell membrane;Secreted NA 1 PE1 -NX_Q8IW03 30660 269 7.21 13 Mitochondrion NA 0 PE2 -NX_Q8IW19 56956 511 4.98 2 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q8IW35 96981 865 4.92 3 Cytosol;Centrosome;Microtubule organizing center NA 0 PE1 -NX_Q8IW36 60149 515 8.98 1 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q8IW40 27163 242 5.74 17 Cytosol;Cytoplasm;Flagellum Ciliary dyskinesia, primary, 17 0 PE1 -NX_Q8IW41 54220 473 7.66 12 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8IW45 36576 347 8.21 13 Mitochondrion NA 0 PE1 -NX_Q8IW50 20400 185 4.53 9 Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q8IW52 94331 837 7.95 X Cytoskeleton;Cell membrane;Membrane NA 1 PE1 -NX_Q8IW70 61506 566 6.72 6 Membrane NA 2 PE1 -NX_Q8IW75 47175 414 9.31 14 Secreted NA 0 PE1 -NX_Q8IW92 72079 636 7.2 11 Nucleus;Secreted NA 0 PE1 -NX_Q8IW93 89197 802 7.31 1 Nucleus NA 0 PE1 -NX_Q8IWA0 94499 830 5.65 2 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q8IWA4 84160 741 5.93 3 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA 2 PE1 -NX_Q8IWA5 80124 706 8.89 19 Cytoplasmic vesicle;Cell junction;Membrane NA 10 PE1 -NX_Q8IWA6 63091 550 9.71 12 NA NA 0 PE1 -NX_Q8IWB1 62060 547 5.58 10 Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q8IWB4 148734 1347 8.96 9 Membrane NA 1 PE2 -NX_Q8IWB6 167901 1497 5.04 17 Kinetochore;Cytosol;Cytoplasm;Cell membrane;Cell junction;Cytoplasmic vesicle;Midbody Spermatogenic failure 23 0 PE1 -NX_Q8IWB7 46324 410 6.99 2 Early endosome NA 0 PE1 -NX_Q8IWB9 125303 1127 5.71 17 Nucleus;Membrane NA 2 PE1 -NX_Q8IWC1 98429 876 9.34 X Spindle;Centrosome NA 0 PE1 -NX_Q8IWD4 30541 279 4.99 22 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q8IWD5 64005 586 8.87 17 Endoplasmic reticulum;Membrane NA 11 PE2 -NX_Q8IWE2 60742 563 4.61 4 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8IWE4 34291 304 5.05 16 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q8IWE5 112780 1019 4.82 1 Cytoplasm NA 0 PE1 -NX_Q8IWF2 77791 684 7.39 22 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q8IWF6 69575 608 8.52 3 Cytoplasmic vesicle;Cytoplasm;Recycling endosome NA 0 PE1 -NX_Q8IWF7 8761 75 8.85 X NA NA 0 PE5 -NX_Q8IWF9 48851 413 5.33 11 Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q8IWG1 102935 891 5.52 1 NA NA 0 PE1 -NX_Q8IWI9 331836 3026 6.35 15 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IWJ2 195910 1684 5.1 2 Nucleoplasm;Cytoplasm;trans-Golgi network membrane;Golgi apparatus NA 0 PE1 -NX_Q8IWK6 146151 1321 8.8 4 Membrane NA 7 PE1 -NX_Q8IWL1 26182 248 5.07 10 Surface film;Extracellular matrix Pulmonary fibrosis, idiopathic 0 PE1 -NX_Q8IWL2 26242 248 4.89 10 Surface film;Extracellular matrix Pulmonary fibrosis, idiopathic;Respiratory distress syndrome in premature infants 0 PE1 -NX_Q8IWL3 27422 235 7.59 22 Cytosol;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q8IWL8 13652 128 4.72 17 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8IWN6 13808 122 9.87 X NA NA 0 PE2 -NX_Q8IWN7 252289 2400 4.41 8 Photoreceptor outer segment;Cilium axoneme Occult macular dystrophy 0 PE1 -NX_Q8IWP9 30367 274 9.32 6 Cytosol NA 0 PE1 -NX_Q8IWQ3 81633 736 8.97 11 Perinuclear region;Endoplasmic reticulum;Golgi apparatus;Centrosome NA 0 PE1 -NX_Q8IWR0 110538 971 7 16 Cytosol;Nucleus NA 0 PE1 -NX_Q8IWR1 47114 403 6.36 3 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8IWS0 41290 365 8.97 X Kinetochore;Nucleolus;Nucleus Boerjeson-Forssman-Lehmann syndrome 0 PE1 -NX_Q8IWT0 19491 167 4.39 1 Cell membrane NA 0 PE1 -NX_Q8IWT1 24969 228 6.9 11 Cell membrane Atrial fibrillation, familial, 17;Long QT syndrome 10 1 PE1 -NX_Q8IWT3 281229 2517 5.3 6 Cytosol;Cytoplasm NA 0 PE1 -NX_Q8IWT6 94199 810 8.15 9 Cell membrane Agammaglobulinemia 5, autosomal dominant 4 PE1 -NX_Q8IWU2 164900 1503 4.35 7 Cytosol;Nucleus speckle;Microtubule organizing center;Cell membrane;Membrane NA 2 PE1 -NX_Q8IWU4 40755 369 6.11 8 Secretory vesicle membrane;Cell membrane;Endoplasmic reticulum NA 6 PE1 -NX_Q8IWU5 100455 870 9.3 20 Cell surface;Golgi stack;Endoplasmic reticulum NA 0 PE1 -NX_Q8IWU6 101027 871 9.23 8 Cell surface;Golgi stack;Endoplasmic reticulum NA 0 PE1 -NX_Q8IWU9 56057 490 6.03 12 NA Major depressive disorder;Attention deficit-hyperactivity disorder 7 0 PE1 -NX_Q8IWV1 44085 398 4.85 1 Cytosol;Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q8IWV2 113454 1026 7.24 3 Cell membrane;Secreted NA 0 PE1 -NX_Q8IWV7 200211 1749 5.67 15 Nucleoplasm;Cytoplasmic vesicle;Cytosol Johanson-Blizzard syndrome 0 PE1 -NX_Q8IWV8 200538 1755 5.84 6 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q8IWW6 96254 846 7.29 10 NA NA 0 PE1 -NX_Q8IWW8 50308 467 7.65 8 Cytoplasmic vesicle;Mitochondrion NA 0 PE1 -NX_Q8IWX5 44741 399 9.17 2 Endoplasmic reticulum membrane NA 9 PE2 -NX_Q8IWX7 103733 931 8.03 17 Cytosol Cataract 43 0 PE1 -NX_Q8IWX8 103702 916 9.15 19 Cytoplasm;Perinuclear region;Endoplasmic reticulum NA 0 PE1 -NX_Q8IWY4 107910 988 6.42 22 Cell membrane;Secreted NA 0 PE1 -NX_Q8IWY8 96719 852 6.55 15 Nucleoplasm;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 -NX_Q8IWY9 134120 1227 6.35 15 Cytosol;Cytoplasm;Nucleus;Cell membrane;Membrane Anemia, congenital dyserythropoietic, 1A 2 PE1 -NX_Q8IWZ3 269458 2542 5.46 5 Cytoplasm NA 0 PE1 -NX_Q8IWZ4 24498 208 8.69 11 NA NA 0 PE2 -NX_Q8IWZ5 82745 723 8.3 3 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q8IWZ6 80353 715 5.7 4 Cytoplasm;Centriolar satellite;Cilium membrane;Cilium basal body Bardet-Biedl syndrome 7 0 PE1 -NX_Q8IWZ8 72471 645 7.2 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IX01 120207 1082 6.92 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IX03 125301 1113 5.65 5 Cytoplasm;Perinuclear region;Nucleus;Ruffle membrane;Golgi apparatus NA 0 PE1 -NX_Q8IX04 52264 471 6.61 11 Cytosol;Nucleus NA 0 PE1 -NX_Q8IX05 26183 232 4.45 2 Microvillus;Cell cortex;Filopodium;Membrane NA 1 PE1 -NX_Q8IX06 73855 675 9.33 8 Cytoplasm;Nucleus NA 0 PE5 -NX_Q8IX07 104888 1006 8.14 16 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IX12 132821 1150 5.57 10 Perinuclear region NA 0 PE1 -NX_Q8IX15 61240 550 4.86 14 Nucleolus;Nucleus NA 0 PE1 -NX_Q8IX18 88560 779 8.93 17 Nucleus NA 0 PE1 -NX_Q8IX19 21229 187 9.03 19 Membrane NA 1 PE1 -NX_Q8IX21 131873 1173 9.09 10 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q8IX29 34588 292 10.05 8 Cytosol;Cytoplasmic vesicle;Cell membrane;Nucleoplasm NA 0 PE2 -NX_Q8IX30 109282 993 7.85 6 Cell surface;Cell membrane;Secreted NA 0 PE1 -NX_Q8IX90 46359 412 4.99 13 Kinetochore;Cytosol;Spindle;Cell membrane NA 0 PE1 -NX_Q8IX94 87989 777 5.18 7 Membrane NA 1 PE2 -NX_Q8IX95 18015 158 4.85 13 NA NA 0 PE5 -NX_Q8IXA5 23431 215 8.27 17 Acrosome membrane;Secreted NA 1 PE1 -NX_Q8IXB1 91080 793 6.78 2 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q8IXB3 19254 177 7.79 17 Perinuclear region;Cell membrane;Endomembrane system NA 2 PE1 -NX_Q8IXE1 34696 308 7.99 14 Cell membrane NA 7 PE3 -NX_Q8IXF0 100805 933 6.16 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IXF9 31475 295 8.49 2 Membrane NA 6 PE2 -NX_Q8IXH6 23980 220 6.33 20 Cytosol;PML body;Nucleus;Autophagosome NA 0 PE1 -NX_Q8IXH7 66247 590 4.98 20 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q8IXH8 92416 832 4.8 20 Cytoskeleton;Cell membrane NA 1 PE1 -NX_Q8IXI1 68118 618 5.55 16 Cytosol;Mitochondrion outer membrane NA 1 PE1 -NX_Q8IXI2 70784 618 5.87 17 Mitochondrion outer membrane NA 1 PE1 -NX_Q8IXJ6 43182 389 5.22 19 Cytoskeleton;Nucleolus;Perikaryon;Centriole;Cytosol;Cytoplasm;Centrosome;Myelin membrane;Perinuclear region;Nucleus;Growth cone;Spindle;Cell projection;Midbody;Chromosome NA 0 PE1 -NX_Q8IXJ9 165432 1541 5.85 20 Nucleolus;Nucleus Bohring-Opitz syndrome;Myelodysplastic syndrome 0 PE1 -NX_Q8IXK0 90713 858 8.93 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IXK2 66938 581 6.35 9 Golgi apparatus membrane Colorectal cancer 1 1 PE1 -NX_Q8IXL6 66234 584 7.65 7 Nucleoplasm;Cytosol;Golgi apparatus;Secreted Raine syndrome 0 PE1 -NX_Q8IXL7 20702 192 7.01 12 Mitochondrion;Endoplasmic reticulum Deafness, autosomal recessive, 74 0 PE1 -NX_Q8IXL9 19627 164 10.57 3 NA NA 0 PE1 -NX_Q8IXM2 17900 172 6.74 17 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IXM3 15383 137 9.59 9 Mitochondrion NA 0 PE1 -NX_Q8IXM6 29379 262 8.82 6 Nucleus inner membrane;Nucleus membrane NA 6 PE1 -NX_Q8IXM7 31065 274 9.6 15 NA NA 0 PE1 -NX_Q8IXN7 42864 391 6.22 1 Cytoplasm;Nucleolus NA 0 PE1 -NX_Q8IXP5 25393 236 4.7 11 NA NA 0 PE2 -NX_Q8IXQ3 21063 194 4.89 9 Cytosol;Cytoplasm;Centrosome;Nucleoplasm NA 0 PE1 -NX_Q8IXQ4 38142 340 5.25 13 Nucleolus;Nucleus NA 0 PE1 -NX_Q8IXQ5 65992 586 6.08 7 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Retinitis pigmentosa 42;Crisponi/Cold-induced sweating syndrome 3 0 PE1 -NX_Q8IXQ6 96343 854 8.12 3 Nucleoplasm;Cytosol;Mitochondrion;Nucleus NA 0 PE1 -NX_Q8IXQ8 29904 264 8.99 16 NA NA 0 PE2 -NX_Q8IXQ9 29461 262 6.05 12 Mitochondrion matrix;Cytoplasm NA 0 PE1 -NX_Q8IXR5 93514 827 5.98 2 Nucleus speckle;Golgi apparatus NA 0 PE1 -NX_Q8IXR9 71046 622 9.33 12 NA NA 0 PE2 -NX_Q8IXS0 57420 508 8.72 6 NA NA 0 PE2 -NX_Q8IXS2 57297 484 6.96 12 Flagellum basal body;Cytoplasmic vesicle;Flagellum axoneme;Flagellum;Microtubule organizing center Ciliary dyskinesia, primary, 27 0 PE1 -NX_Q8IXS6 42185 379 5.04 9 Cell membrane NA 0 PE1 -NX_Q8IXS8 58647 530 8.01 2 Cytosol;Nucleus;Cell junction;Cell membrane NA 0 PE1 -NX_Q8IXT1 111616 998 6.8 11 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q8IXT2 39124 367 9.18 19 Nucleus NA 0 PE1 -NX_Q8IXT5 118103 1001 6.34 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IXU6 41212 374 5.86 11 Mitochondrion;Membrane NA 10 PE1 -NX_Q8IXV7 37676 354 8.61 3 Cytosol;Cytoplasm;Midbody Lymphoma, Hodgkin, classic 0 PE1 -NX_Q8IXW0 70379 634 9.12 11 Cytosol NA 0 PE1 -NX_Q8IXW5 69509 612 7.86 1 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q8IXX5 42826 376 9.28 1 Membrane NA 1 PE1 -NX_Q8IXY8 35228 311 6.55 6 Cytosol;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8IXZ2 101941 948 10.95 8 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8IXZ3 48674 490 9.1 7 Nucleus NA 0 PE1 -NX_Q8IY17 150954 1375 7.89 19 Endoplasmic reticulum membrane Laurence-Moon syndrome;Oliver-McFarlane syndrome;Boucher-Neuhauser syndrome;Spastic paraplegia 39, autosomal recessive 1 PE1 -NX_Q8IY18 128806 1101 8.63 9 PML body;Telomere;Nucleus;Chromosome;Nucleus speckle NA 0 PE1 -NX_Q8IY21 197853 1712 7.53 4 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q8IY22 86331 773 6.26 16 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8IY26 32194 295 10.03 9 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 4 PE1 -NX_Q8IY31 15281 132 5.07 17 Golgi apparatus;cis-Golgi network;Centriole;Cytoskeleton;Cilium;Cilium basal body NA 0 PE1 -NX_Q8IY33 97502 904 9.63 7 Cytosol;Cell membrane;Recycling endosome;Cell projection;Cytoskeleton;Tight junction NA 0 PE1 -NX_Q8IY34 63560 581 9.27 11 Cytoplasmic vesicle;Lysosome membrane NA 12 PE1 -NX_Q8IY37 129545 1157 8.36 12 Nucleus membrane NA 0 PE1 -NX_Q8IY42 33742 314 4.36 4 Cell junction NA 0 PE1 -NX_Q8IY45 28408 258 8.15 12 Centrosome NA 0 PE1 -NX_Q8IY47 71331 623 5.42 7 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q8IY49 31264 270 8.97 7 Golgi apparatus membrane NA 7 PE1 -NX_Q8IY50 46817 421 9.57 1 Nucleolus;Golgi apparatus;Cell membrane;Membrane NA 10 PE1 -NX_Q8IY51 57468 512 6.05 4 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IY57 19901 180 9.74 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IY63 106574 956 6.62 11 Cytosol;Cytoskeleton;Cell junction;Tight junction NA 0 PE1 -NX_Q8IY67 63877 606 8.79 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8IY81 96558 847 8.53 17 Nucleolus NA 0 PE1 -NX_Q8IY82 103497 874 5.49 16 Flagellum axoneme;Flagellum;Cilium axoneme NA 0 PE1 -NX_Q8IY84 49606 436 8.53 5 Cytosol NA 0 PE1 -NX_Q8IY85 110129 973 6.15 17 Cytosol;Nucleus speckle;Nucleus NA 0 PE2 -NX_Q8IY92 200012 1834 5.74 16 Cytosol;Nucleoplasm;Nucleus;Cell junction Fanconi anemia complementation group P 0 PE1 -NX_Q8IY95 30922 271 8.13 4 Nucleoplasm;Endosome;Lysosome membrane;Late endosome;Lysosome NA 4 PE1 -NX_Q8IYA2 143112 1237 5.51 17 NA NA 0 PE5 -NX_Q8IYA6 83587 745 9.84 2 Cytosol;Spindle;Spindle pole Filippi syndrome 0 PE1 -NX_Q8IYA7 39331 352 9.66 10 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q8IYA8 66343 594 8.55 3 Nucleoplasm;Chromosome NA 0 PE1 -NX_Q8IYB0 21182 196 9.8 11 NA NA 0 PE5 -NX_Q8IYB1 55800 491 6.58 3 Cytosol NA 0 PE1 -NX_Q8IYB3 102335 904 11.84 1 Nucleus matrix;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q8IYB4 69697 626 5.18 3 Cytoplasm;Membrane NA 0 PE1 -NX_Q8IYB5 50386 467 8.92 6 Cytosol;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q8IYB7 99279 885 5.74 2 Cytoplasm;P-body Perlman syndrome 0 PE1 -NX_Q8IYB8 87991 786 8.21 10 Mitochondrion;Mitochondrion matrix;Mitochondrion nucleoid;Nucleus NA 0 PE1 -NX_Q8IYB9 74302 648 9.3 4 Nucleus NA 0 PE1 -NX_Q8IYD1 68883 628 5.31 X Cytosol;Cytoplasm NA 0 PE1 -NX_Q8IYD2 38859 350 9.36 1 NA NA 0 PE2 -NX_Q8IYD8 232191 2048 5.76 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IYD9 41811 372 8.43 18 Nucleoplasm;Secreted NA 0 PE1 -NX_Q8IYE0 112806 955 8.59 7 Centriole;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q8IYE1 80884 715 8.82 3 Centriolar satellite;Centrosome;Cilium basal body NA 0 PE1 -NX_Q8IYF1 83921 753 9.76 18 Nucleus NA 0 PE1 -NX_Q8IYF3 107889 940 5.07 X Chromosome Spermatogenic failure, X-linked, 2 0 PE1 -NX_Q8IYG6 58733 542 8.05 11 NA NA 0 PE2 -NX_Q8IYH5 102023 903 5.48 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q8IYI0 22938 205 4.72 20 Cytoplasmic vesicle;Endoplasmic reticulum;Chromosome;Golgi apparatus NA 0 PE1 -NX_Q8IYI6 81799 725 5.35 1 Cytosol;Cytoplasm;Perinuclear region;Cell projection;Growth cone NA 0 PE1 -NX_Q8IYI8 69106 595 9.33 19 Nucleus NA 0 PE1 -NX_Q8IYJ0 30076 282 9.29 12 Nucleoplasm;Membrane NA 1 PE1 -NX_Q8IYJ1 61864 553 5.18 3 NA NA 0 PE1 -NX_Q8IYJ2 63656 551 8.91 10 Mitochondrion;Nucleus speckle;Nucleolus;Nucleoplasm NA 0 PE1 -NX_Q8IYJ3 61857 562 5.32 1 Cell membrane NA 0 PE1 -NX_Q8IYK2 56909 499 9.89 19 NA NA 0 PE1 -NX_Q8IYK4 72924 626 5.82 1 Cytoplasmic vesicle;Endoplasmic reticulum lumen;Nucleus NA 0 PE1 -NX_Q8IYK8 37139 340 8.33 14 Cell membrane NA 0 PE1 -NX_Q8IYL2 84629 757 6.98 4 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q8IYL3 25977 243 6.45 1 Nucleus NA 0 PE1 -NX_Q8IYL9 39333 337 8.12 14 Cytosol;Cell membrane NA 7 PE1 -NX_Q8IYM0 103722 893 9.08 12 NA NA 0 PE1 -NX_Q8IYM1 40748 358 6.67 16 Flagellum;Cytoplasm;Spindle;Nucleus;Cytoskeleton Spermatogenic failure 10 0 PE1 -NX_Q8IYM2 66972 578 8.84 17 NA NA 0 PE1 -NX_Q8IYM9 56947 498 7.97 11 Nucleoplasm;Nucleus speckle;Cytoplasm;Nucleus;Cajal body NA 0 PE1 -NX_Q8IYN0 62745 542 9.17 19 Nucleus NA 0 PE1 -NX_Q8IYN2 13616 117 5.32 X Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IYN6 17877 164 6.78 17 NA NA 0 PE1 -NX_Q8IYP2 27085 241 6.36 7 Secreted NA 0 PE1 -NX_Q8IYP9 45983 409 8.97 3 Nucleus;Membrane NA 6 PE1 -NX_Q8IYQ7 83070 743 6.69 10 Cytosol;Mitochondrion;Nucleus NA 0 PE1 -NX_Q8IYR0 71193 622 6.38 6 Nucleoplasm;Cell junction;Cilium axoneme NA 0 PE1 -NX_Q8IYR2 89225 804 6.39 17 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q8IYR6 40934 380 6.27 9 Cell membrane NA 1 PE1 -NX_Q8IYS0 76035 662 6.81 3 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 -NX_Q8IYS1 47776 436 5.56 6 Nucleoplasm NA 0 PE1 -NX_Q8IYS2 69157 634 8.44 1 Cytosol;Golgi apparatus;Membrane NA 1 PE1 -NX_Q8IYS4 55682 520 4.83 16 Nucleus speckle NA 0 PE1 -NX_Q8IYS5 30481 282 6.09 19 Cell membrane;Secreted NA 0 PE1 -NX_Q8IYS8 18075 172 5.1 18 Kinetochore;Centrosome NA 0 PE1 -NX_Q8IYT1 63177 594 9.67 1 NA NA 0 PE1 -NX_Q8IYT2 88120 770 6.57 16 Nucleus speckle;Nucleus;Cell junction;Cytoplasm NA 0 PE1 -NX_Q8IYT3 82277 715 6.22 6 Cell junction;Golgi apparatus NA 0 PE1 -NX_Q8IYT4 61253 538 7.22 18 Nucleoplasm;Cytoplasm;Cytoskeleton;Spindle pole;Spindle NA 0 PE1 -NX_Q8IYT8 112694 1036 8.84 17 Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q8IYU2 102342 909 5.58 6 Golgi stack membrane;Nucleus;Endoplasmic reticulum;Cytoplasm Spastic paraplegia and psychomotor retardation with or without seizures 0 PE1 -NX_Q8IYU4 52897 475 5.67 11 NA NA 0 PE1 -NX_Q8IYU8 49666 434 9.17 13 Mitochondrion;Nucleus;Mitochondrion intermembrane space NA 0 PE1 -NX_Q8IYV9 38930 350 6.11 19 Acrosome membrane;Cell membrane NA 1 PE1 -NX_Q8IYW2 303500 2715 7.07 10 Cilium axoneme NA 0 PE1 -NX_Q8IYW4 67538 607 6.16 22 NA NA 0 PE1 -NX_Q8IYW5 65020 571 8.26 3 Nucleoplasm;Nucleus Riddle syndrome 0 PE1 -NX_Q8IYX0 47179 411 9.17 7 Nucleus NA 0 PE1 -NX_Q8IYX1 39221 336 5.81 15 Cytoskeleton;Acrosome NA 0 PE1 -NX_Q8IYX3 67946 613 8.83 22 Centrosome NA 0 PE1 -NX_Q8IYX4 38687 353 9.74 5 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8IYX7 54621 474 8.68 9 Centriole;Flagellum axoneme;Centrosome;Cilium axoneme;Cilium basal body NA 0 PE1 -NX_Q8IYX8 53649 460 8.82 6 Cytosol;Centrosome;Cell membrane NA 0 PE1 -NX_Q8IYY4 86848 767 6.85 3 Centriole;Nucleoplasm;Cytoskeleton;Cilium basal body Polycystic kidney disease 5 0 PE1 -NX_Q8IZ02 51277 464 6.32 3 Cytoplasm;Cytoskeleton;Nucleolus;Nucleus;Cell junction NA 0 PE1 -NX_Q8IZ07 67619 590 4.93 12 Late endosome;Cell membrane NA 0 PE1 -NX_Q8IZ08 51736 494 9.88 14 Endosome membrane;Cell membrane NA 7 PE1 -NX_Q8IZ13 68327 594 5.98 5 Nucleoplasm NA 0 PE1 -NX_Q8IZ16 23862 206 10.41 7 Cytoplasmic vesicle NA 0 PE1 -NX_Q8IZ20 56905 524 9.01 1 Nucleus NA 0 PE1 -NX_Q8IZ21 78211 702 6.2 1 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane;Lamellipodium NA 0 PE1 -NX_Q8IZ26 64038 560 9.05 8 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8IZ40 58012 523 9.08 11 Cytoplasmic vesicle;Nucleus;Midbody NA 0 PE1 -NX_Q8IZ41 82879 740 4.99 9 Perinuclear region;Cytoskeleton NA 0 PE1 -NX_Q8IZ52 85467 775 6.45 2 Golgi stack membrane;Cytosol;Cytoplasmic vesicle;Mitochondrion matrix;Mitochondrion;Centrosome NA 1 PE1 -NX_Q8IZ57 21475 195 7.61 6 Cytoplasmic vesicle;Nucleus;Membrane NA 2 PE1 -NX_Q8IZ63 43980 422 4.97 19 Cytosol;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q8IZ69 68726 625 8.21 22 Cytosol;Nucleus NA 0 PE1 -NX_Q8IZ73 61311 545 6.72 15 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q8IZ81 34961 293 8.12 4 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q8IZ83 85127 802 6.35 19 Mitochondrion NA 0 PE1 -NX_Q8IZ96 18576 169 6.5 16 Nucleoplasm;Membrane NA 4 PE1 -NX_Q8IZA0 115658 1049 5.71 1 Nucleolus;trans-Golgi network membrane;Cytoplasmic granule membrane;Golgi apparatus;Cell membrane;Golgi apparatus membrane NA 2 PE1 -NX_Q8IZA3 35813 346 11.27 3 Cytoplasm;Nucleus;Chromosome NA 0 PE2 -NX_Q8IZC4 69304 609 8.03 10 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q8IZC6 186892 1860 9.83 9 Extracellular matrix Steel syndrome 0 PE1 -NX_Q8IZC7 50339 436 9.67 19 Nucleus NA 0 PE1 -NX_Q8IZD0 45056 417 9.41 17 Nucleolus;Nucleus NA 0 PE1 -NX_Q8IZD2 204965 1858 7.41 7 Nucleus speckle;Nucleoplasm;Cytoplasm;Cell membrane;Centrosome;Chromosome NA 0 PE1 -NX_Q8IZD4 67723 617 8.75 12 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q8IZD6 60540 547 5.41 1 Membrane NA 12 PE1 -NX_Q8IZD9 233103 2030 6.52 3 Cytosol;Cytoplasm NA 0 PE1 -NX_Q8IZE3 82857 742 4.96 1 Cytoplasm;Cytoskeleton;Nucleus;Golgi apparatus;Lamellipodium NA 0 PE1 -NX_Q8IZF0 200331 1738 8.93 13 Membrane Congenital contractures of the limbs and face, hypotonia, and developmental delay;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 24 PE1 -NX_Q8IZF2 149457 1346 6.23 6 Cell membrane NA 7 PE1 -NX_Q8IZF3 77719 695 9.23 6 Mitochondrion;Membrane NA 7 PE1 -NX_Q8IZF4 59000 528 8.69 16 Cytoplasmic vesicle;Nucleoplasm;Cell membrane;Nucleus membrane NA 7 PE1 -NX_Q8IZF5 116341 1079 7.44 2 Membrane NA 7 PE2 -NX_Q8IZF6 333368 3080 5.82 X Membrane NA 7 PE2 -NX_Q8IZF7 78569 708 8.45 6 Membrane NA 7 PE2 -NX_Q8IZH2 194107 1706 6.78 3 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8IZI9 21706 196 8.69 19 Secreted NA 0 PE1 -NX_Q8IZJ0 22288 200 8.15 19 Secreted NA 0 PE2 -NX_Q8IZJ1 103638 945 5.68 10 Membrane raft;Cell membrane NA 1 PE1 -NX_Q8IZJ3 206702 1885 6 19 Cell membrane;Secreted Anterior segment dysgenesis 8 0 PE1 -NX_Q8IZJ4 52346 473 8.17 22 Cytoplasmic vesicle;Centrosome NA 0 PE2 -NX_Q8IZJ6 25407 230 9.58 8 Mitochondrion NA 0 PE2 -NX_Q8IZK6 65942 566 7.73 1 Late endosome membrane;Cytoskeleton;Lysosome membrane;Recycling endosome membrane;Cell membrane NA 6 PE1 -NX_Q8IZL2 125197 1156 9.45 11 Nucleoplasm;Nucleus speckle;Nucleus;Cytosol NA 0 PE1 -NX_Q8IZL8 119700 1130 4.29 17 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q8IZL9 38695 346 6.27 9 Nucleoplasm;Cytoplasm;Nucleus;Cilium NA 0 PE1 -NX_Q8IZM0 9081 81 11.39 4 NA NA 0 PE5 -NX_Q8IZM8 65854 581 5.36 3 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q8IZM9 50929 456 8.02 14 Cytoskeleton;Cell junction;Cell membrane NA 11 PE1 -NX_Q8IZN3 53388 488 8.59 6 Mitochondrion;Nucleolus;Membrane NA 4 PE1 -NX_Q8IZN7 7846 70 9.45 8 Secreted NA 0 PE2 -NX_Q8IZP0 55081 508 6.57 10 Cytoplasm;Cell membrane;Growth cone;Nucleus;Filopodium;Postsynaptic density;Lamellipodium;Cytoskeleton;Cell junction NA 0 PE1 -NX_Q8IZP1 62187 549 9.24 17 Cell membrane NA 0 PE1 -NX_Q8IZP2 27407 240 5.01 13 Cytoplasm NA 0 PE5 -NX_Q8IZP6 36259 322 7.54 13 NA NA 0 PE1 -NX_Q8IZP7 54844 471 6.39 13 Nucleoplasm;Cytoskeleton;Nucleus membrane;Membrane NA 1 PE1 -NX_Q8IZP9 111593 1017 7.66 X Cytosol;Apical cell membrane;Cell membrane Congenital bilateral aplasia of the vas deferens, X-linked 7 PE1 -NX_Q8IZQ1 395258 3526 6.3 4 PML body;Nucleolus;Perikaryon;Nucleus membrane;Cytosol;Cell membrane;Axon;Membrane Microcephaly 18, primary, autosomal dominant 0 PE1 -NX_Q8IZQ5 13453 122 9.76 11 Nucleolus;Nucleus NA 0 PE1 -NX_Q8IZQ8 101997 938 6.17 17 Nucleus NA 0 PE1 -NX_Q8IZR5 25828 234 7.65 16 Cytoplasmic vesicle;Cell membrane;Golgi apparatus;Membrane NA 4 PE1 -NX_Q8IZS5 26754 231 5.89 6 NA NA 0 PE1 -NX_Q8IZS6 23176 198 9.34 6 Cytoplasmic granule;Cytoskeleton;Membrane NA 0 PE1 -NX_Q8IZS7 19115 167 9.44 12 Cell membrane NA 1 PE2 -NX_Q8IZS8 123011 1091 5.53 3 Cytosol;Nucleus;Membrane NA 1 PE1 -NX_Q8IZT6 409800 3477 10.45 1 Cytosol;Cytoplasm;Spindle;Nucleus;Cell membrane Microcephaly 5, primary, autosomal recessive 0 PE1 -NX_Q8IZT8 40408 346 9.8 6 Golgi apparatus membrane NA 1 PE1 -NX_Q8IZT9 19210 166 5.16 X Nucleus NA 0 PE1 -NX_Q8IZU0 22438 186 5.31 X Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IZU1 37339 332 4.82 X Nucleolus NA 0 PE1 -NX_Q8IZU2 147703 1322 6.01 4 Nucleus speckle NA 0 PE1 -NX_Q8IZU3 27729 236 9.22 12 Nucleus;Centromere;Chromosome Spermatogenic failure 4;Pregnancy loss, recurrent, 4 0 PE1 -NX_Q8IZU8 139238 1212 8.48 18 Nucleoplasm;Cell membrane;Membrane NA 2 PE1 -NX_Q8IZU9 85255 778 6.46 11 Cell membrane;Secreted NA 1 PE1 -NX_Q8IZV2 19572 173 6.06 3 Nucleoplasm;Cytoplasm;Nucleus;Membrane NA 4 PE1 -NX_Q8IZV5 38087 341 7.11 8 Endoplasmic reticulum membrane;Microsome membrane;Lipid droplet NA 1 PE1 -NX_Q8IZW8 76764 715 7.01 17 Focal adhesion;Cytoskeleton NA 0 PE1 -NX_Q8IZX4 207302 1826 5.26 9 Nucleus NA 0 PE1 -NX_Q8IZY2 234350 2146 6.85 19 Early endosome membrane;Golgi apparatus membrane;Golgi apparatus;Cell membrane;Cell junction Alzheimer disease 9 15 PE1 -NX_Q8IZY5 12045 108 6.73 11 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q8J025 58797 514 8.43 18 Cell membrane Hypotrichosis 1 1 PE1 -NX_Q8MH63 18779 180 6.72 16 Membrane NA 3 PE5 -NX_Q8N0S2 39699 351 5.89 10 Cytosol;Nucleoplasm;Nucleus;Chromosome Premature ovarian failure 12;Spermatogenic failure, 15 0 PE1 -NX_Q8N0S6 38998 344 6.08 1 Nucleus;Centromere NA 0 PE1 -NX_Q8N0T1 11456 100 10.46 8 Mitochondrion;Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q8N0U2 22170 210 4.54 1 Membrane NA 2 PE2 -NX_Q8N0U4 42301 392 8.22 7 Cytosol NA 0 PE1 -NX_Q8N0U6 13361 118 4.89 6 NA NA 0 PE5 -NX_Q8N0U7 62035 546 8.82 1 NA NA 0 PE1 -NX_Q8N0U8 19836 176 9.28 7 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 4 PE1 -NX_Q8N0V1 14971 137 9.08 21 NA NA 0 PE5 -NX_Q8N0V3 38359 343 8.01 18 Mitochondrion NA 0 PE1 -NX_Q8N0V4 62298 545 6.47 4 Centrosome;Secreted NA 0 PE1 -NX_Q8N0V5 45873 402 6.73 6 Golgi apparatus membrane;Golgi apparatus Cataract 13, with adult i phenotype 1 PE1 -NX_Q8N0W3 117623 1084 5.84 16 Cytoplasmic vesicle NA 0 PE1 -NX_Q8N0W4 91915 816 5.78 X Postsynaptic density;Cell membrane Asperger syndrome, X-linked, 2;Autism, X-linked 2 1 PE1 -NX_Q8N0W5 33292 287 8.49 16 Cytosol;Nucleus speckle;Nucleolus;Nucleus NA 0 PE1 -NX_Q8N0W7 29241 255 9.19 X Membrane NA 2 PE1 -NX_Q8N0X2 70818 631 5.9 2 Flagellum axoneme;Flagellum;Cytosol;Cytoplasm;Cell membrane;Cilium axoneme NA 0 PE1 -NX_Q8N0X4 37359 340 8.88 13 Cytosol;Mitochondrion NA 0 PE1 -NX_Q8N0X7 72833 666 5.66 13 Cytosol;Cytoplasm;Midbody;Cell membrane Spastic paraplegia 20, autosomal recessive 0 PE1 -NX_Q8N0Y2 35204 327 8.9 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q8N0Y3 35724 316 9.03 15 Centrosome;Cell membrane NA 7 PE2 -NX_Q8N0Y5 34661 310 8.56 11 Cell membrane NA 7 PE2 -NX_Q8N0Y7 28777 254 6.19 X NA NA 0 PE1 -NX_Q8N0Z2 43117 381 8.7 8 Sarcomere;Cytoskeleton NA 0 PE1 -NX_Q8N0Z3 96264 855 7.03 3 Centriole;Spindle;Centrosome NA 0 PE1 -NX_Q8N0Z6 48928 440 6.05 14 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8N0Z8 33233 303 9.89 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q8N0Z9 59217 540 4.62 12 Cytosol;Membrane;Cell membrane;Microtubule organizing center NA 1 PE1 -NX_Q8N100 16871 152 9.61 10 Nucleus Persistent hyperplastic primary vitreous, autosomal recessive 0 PE1 -NX_Q8N103 80703 731 6.04 6 NA NA 0 PE1 -NX_Q8N104 7369 65 8.96 8 Membrane;Secreted NA 0 PE1 -NX_Q8N108 57983 512 4.34 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8N109 40678 375 8.36 19 Cell membrane NA 1 PE3 -NX_Q8N111 14954 149 9.24 11 Mitochondrion;Membrane NA 1 PE1 -NX_Q8N112 17868 164 5.69 3 Membrane NA 1 PE1 -NX_Q8N114 25582 240 6.26 3 Endoplasmic reticulum membrane;Nucleus membrane NA 1 PE1 -NX_Q8N118 58875 509 8.74 1 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_Q8N119 65043 569 9.19 10 Secreted Heterotaxy, visceral, 7, autosomal 0 PE2 -NX_Q8N122 149038 1335 6.43 17 Cytoplasm;Cytoplasmic granule;Nucleoplasm;Cytosol;Lysosome NA 0 PE1 -NX_Q8N123 34727 301 8.9 X NA NA 0 PE2 -NX_Q8N126 43300 398 5.71 1 Cell junction;Cell membrane NA 1 PE1 -NX_Q8N127 36653 324 8.63 11 Cell membrane NA 7 PE3 -NX_Q8N128 23757 213 4.4 14 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q8N129 28310 248 4.6 7 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q8N130 63550 599 8.62 9 Membrane Hereditary hypophosphatemic rickets with hypercalciuria 8 PE1 -NX_Q8N131 21531 208 8.76 11 Cytoplasmic vesicle;Cytosol;Golgi apparatus;Cell membrane;Membrane NA 1 PE1 -NX_Q8N135 59141 537 7.28 19 Golgi apparatus;Secreted Arthrogryposis multiplex congenita, neurogenic, with myelin defect 0 PE1 -NX_Q8N136 45777 415 6.12 2 Nucleoplasm;Nucleus;Cilium NA 0 PE1 -NX_Q8N137 101253 903 5.41 17 Centriole;Cytosol;Centrosome NA 0 PE1 -NX_Q8N138 17495 153 9.64 17 Endoplasmic reticulum membrane Asthma 2 PE1 -NX_Q8N139 184286 1617 7.05 17 Nucleoplasm;Membrane NA 14 PE1 -NX_Q8N140 38168 333 5.03 12 Cytoplasm;Nucleolus;Nucleus;Telomere NA 0 PE1 -NX_Q8N141 62578 532 9.2 19 Cytosol;Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q8N142 50208 457 8.76 14 Cytoplasm Myopathy, distal, 5 0 PE1 -NX_Q8N143 51531 479 9.23 17 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q8N144 31933 294 8.94 17 Gap junction;Cell membrane NA 4 PE1 -NX_Q8N145 61704 548 8.15 8 Cytosol;Synaptosome;Synaptic vesicle;Secreted NA 0 PE1 -NX_Q8N146 35219 312 8.53 11 Cell membrane NA 7 PE3 -NX_Q8N148 34902 313 8.32 7 Cell membrane NA 7 PE2 -NX_Q8N149 52992 483 6.43 19 Cell membrane;Secreted NA 1 PE1 -NX_Q8N157 137115 1196 6.67 6 Centriole;Cytoplasm;Cilium basal body;Centrosome;Adherens junction Joubert syndrome 3 0 PE1 -NX_Q8N158 62830 579 8.33 7 Extracellular space;Nucleolus;Golgi apparatus;Cell membrane;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q8N159 58156 534 9.12 17 Mitochondrion;Mitochondrion matrix N-acetylglutamate synthase deficiency 0 PE1 -NX_Q8N162 35422 312 9.03 11 Cell membrane NA 7 PE3 -NX_Q8N163 102902 923 5.14 8 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8N165 38546 341 6.42 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N183 19856 169 8.94 5 Mitochondrion Mitochondrial complex I deficiency;Leigh syndrome 0 PE1 -NX_Q8N184 75164 647 9.3 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N187 80698 725 5.47 2 Cytosol;Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 -NX_Q8N196 74562 739 4.93 19 Cytoplasm;Nucleus Branchiootorenal syndrome 2 0 PE1 -NX_Q8N1A0 34158 295 5.63 17 Cytoplasmic vesicle;Lipid droplet NA 0 PE1 -NX_Q8N1A6 23468 199 5.27 4 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8N1B3 28369 248 5.84 X Cytoplasm;Nucleus Toe syndactyly, telecanthus, and anogenital and renal malformations 0 PE1 -NX_Q8N1B4 82221 723 5.7 6 Endosome membrane;Recycling endosome;trans-Golgi network membrane NA 0 PE1 -NX_Q8N1C3 53595 465 8.39 4 Postsynaptic cell membrane;Cell membrane NA 4 PE2 -NX_Q8N1D0 27061 253 9.87 11 Nucleoplasm;Nucleus NA 0 PE2 -NX_Q8N1D5 23067 194 9.73 1 Cytosol NA 0 PE1 -NX_Q8N1E2 21431 194 8.47 2 Secreted NA 0 PE2 -NX_Q8N1E6 45886 418 9.15 12 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q8N1F1 13824 130 9.49 17 Mitochondrion NA 0 PE5 -NX_Q8N1F7 93488 819 5.5 16 Nuclear pore complex;Nucleus;Nucleus envelope;Nucleus membrane Nephrotic syndrome 12 0 PE1 -NX_Q8N1F8 120259 1088 5.24 2 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q8N1G0 129529 1237 8.56 1 Nucleoplasm;Cytoplasm;Nucleus Paget disease of bone 6 0 PE1 -NX_Q8N1G1 131510 1221 9.12 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N1G2 95321 835 6.64 6 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q8N1G4 63473 583 8.55 1 Nucleolus NA 0 PE1 -NX_Q8N1H7 68166 587 5.39 14 Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_Q8N1I0 225206 1966 7.57 7 Cytosol;Nucleolus;Cell projection;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q8N1I8 22698 211 6.31 19 NA NA 0 PE2 -NX_Q8N1K5 73452 641 5.62 6 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8N1L1 18115 170 6.03 22 NA NA 0 PE5 -NX_Q8N1L4 40159 340 9.25 1 Membrane NA 1 PE5 -NX_Q8N1L9 29398 274 7.2 11 Nucleolus;Nucleus NA 0 PE1 -NX_Q8N1M1 76107 668 6.13 12 Cytoplasm;Cell membrane NA 4 PE2 -NX_Q8N1N0 65519 589 6.23 2 Membrane NA 1 PE2 -NX_Q8N1N2 22529 210 5.27 18 Golgi apparatus membrane;Cell membrane NA 1 PE1 -NX_Q8N1N4 56866 520 5.79 12 NA NA 0 PE1 -NX_Q8N1N5 48076 446 8.42 4 Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_Q8N1P7 68646 616 4.99 1 Nucleoplasm NA 0 PE1 -NX_Q8N1Q1 29443 262 6.45 8 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 -NX_Q8N1Q8 27677 247 7.61 1 Mitochondrion matrix NA 0 PE1 -NX_Q8N1S5 35396 342 5.44 17 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane;Golgi apparatus NA 7 PE1 -NX_Q8N1T3 119037 1032 9.19 12 NA NA 0 PE1 -NX_Q8N1V2 68298 620 6.51 17 Cytoplasm;Flagellum NA 0 PE1 -NX_Q8N1V8 13299 128 7.66 10 NA NA 0 PE5 -NX_Q8N1W1 191891 1705 5.69 5 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q8N1W2 74461 664 6.33 15 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N1X5 16487 172 12.11 6 NA NA 0 PE2 -NX_Q8N1Y9 24915 231 6.89 9 Membrane NA 1 PE5 -NX_Q8N201 244297 2190 5.77 7 Nucleoplasm;Nucleus membrane NA 1 PE1 -NX_Q8N205 43512 404 5.48 19 Nucleus outer membrane Deafness, autosomal recessive, 76 1 PE1 -NX_Q8N228 45023 414 9.78 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N239 70612 644 5.41 X NA NA 0 PE2 -NX_Q8N257 13908 126 10.31 1 Nucleus;Chromosome NA 0 PE1 -NX_Q8N264 84258 748 6.24 4 Cytosol;Cell membrane;Focal adhesion;Adherens junction;Cytoskeleton;Cell projection NA 0 PE1 -NX_Q8N268 14459 126 9.37 20 NA NA 0 PE2 -NX_Q8N271 91883 834 5.8 2 Apical cell membrane;Basolateral cell membrane;Nucleoplasm;Cell membrane;Cilium membrane;Microvillus membrane;Cell junction NA 5 PE1 -NX_Q8N283 109966 1001 5.76 1 NA NA 0 PE1 -NX_Q8N292 17883 157 8.67 5 Cell membrane NA 1 PE1 -NX_Q8N2A0 18329 174 6.74 X NA NA 0 PE5 -NX_Q8N2A8 28273 252 9.53 17 Mitochondrion outer membrane NA 1 PE1 -NX_Q8N2B8 19079 174 11.57 2 NA NA 0 PE2 -NX_Q8N2C3 33694 294 6.71 12 Cytoskeleton NA 0 PE2 -NX_Q8N2C7 363390 3258 6.4 2 Cytoplasmic vesicle;Membrane Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 4 PE1 -NX_Q8N2C9 18019 162 7.18 21 NA NA 0 PE2 -NX_Q8N2E2 176780 1590 5.42 7 Cytosol;Nucleoplasm;Secreted NA 0 PE1 -NX_Q8N2E6 26262 242 10.17 9 Secreted NA 0 PE1 -NX_Q8N2F6 37540 343 6.16 7 Mitochondrion;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8N2G4 15240 141 8.4 2 Cell membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q8N2G6 26955 241 8.97 10 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q8N2G8 57523 530 8.05 17 Nucleus envelope;Endoplasmic reticulum NA 0 PE1 -NX_Q8N2H3 63068 581 6.47 10 Mitochondrion NA 0 PE1 -NX_Q8N2H4 17615 156 7.62 20 Golgi apparatus membrane NA 4 PE1 -NX_Q8N2H9 50755 469 7.24 11 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 -NX_Q8N2I2 63322 560 8.72 3 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q8N2I9 49001 435 8.04 1 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8N2K0 45097 398 8.87 20 Membrane Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 1 PE1 -NX_Q8N2K1 28898 259 8.6 1 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8N2M4 26398 240 8.92 11 Nucleoplasm;Golgi apparatus;Membrane NA 7 PE2 -NX_Q8N2M8 77161 674 10.44 19 Nucleus NA 0 PE1 -NX_Q8N2N9 153582 1353 9.01 2 NA NA 0 PE1 -NX_Q8N2Q7 93835 840 5.79 3 Postsynaptic density;Synapse;Nucleus;Cell membrane NA 1 PE1 -NX_Q8N2R0 35513 312 9.66 8 Nucleus;Cell membrane NA 0 PE1 -NX_Q8N2R8 45776 423 6.1 3 Cytoplasmic vesicle NA 0 PE1 -NX_Q8N2S1 173435 1624 5.27 19 Extracellular matrix Duchenne muscular dystrophy;Urban-Rifkin-Davis syndrome 0 PE1 -NX_Q8N2U0 11742 113 9.1 17 Cytoplasmic vesicle;Membrane NA 2 PE1 -NX_Q8N2U9 30478 271 8.34 18 Nucleoplasm;Membrane NA 6 PE1 -NX_Q8N2W9 56504 510 5.84 19 Nucleoplasm;PML body NA 0 PE1 -NX_Q8N2X6 12661 119 11.04 5 Secreted NA 0 PE1 -NX_Q8N2Y8 161225 1516 6.17 9 Cytosol Mental retardation, autosomal recessive 61 0 PE1 -NX_Q8N2Z9 15893 138 5.83 1 Kinetochore;Centromere;Nucleus NA 0 PE1 -NX_Q8N300 7808 66 9.21 1 Cytosol;Nucleoplasm;Secreted;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8N302 80977 714 5.29 5 Cytoplasm;Secreted Klippel-Trenaunay syndrome 0 PE1 -NX_Q8N307 71982 709 4.95 3 Apical cell membrane;Basolateral cell membrane;Secreted;Nucleoplasm;Cell membrane;Cytosol;Microvillus membrane NA 0 PE1 -NX_Q8N309 73022 656 5.17 12 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q8N319 26113 242 12.2 6 Nucleolus NA 0 PE2 -NX_Q8N323 63178 547 8.78 11 Secreted NA 0 PE1 -NX_Q8N326 17766 155 10.01 10 Membrane NA 1 PE2 -NX_Q8N328 67595 593 7.81 10 Nucleus NA 0 PE1 -NX_Q8N335 38419 351 6.61 3 Cytoplasm Brugada syndrome 2 0 PE1 -NX_Q8N336 39052 334 8.78 11 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8N339 6110 61 8.05 16 NA NA 0 PE1 -NX_Q8N344 59944 545 4.53 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q8N349 35634 312 9.09 1 Cell membrane NA 7 PE2 -NX_Q8N350 73929 705 5.96 19 Nucleoplasm;Synaptic vesicle membrane;Growth cone;Cell membrane NA 1 PE1 -NX_Q8N357 40214 371 6.44 2 Endosome;Lysosome membrane;Cytosol;Cytoplasmic vesicle;Nucleoplasm;Mitochondrion NA 9 PE1 -NX_Q8N365 41443 385 9.49 1 Nucleoplasm;PML body;Nucleus NA 0 PE1 -NX_Q8N370 62747 569 8.25 17 Golgi apparatus;Cell membrane;Membrane NA 12 PE1 -NX_Q8N371 47270 416 5.51 16 Nucleoplasm;Cytosol;Nucleus;Chromosome NA 0 PE1 -NX_Q8N377 15598 158 7.64 10 NA NA 0 PE5 -NX_Q8N386 33179 305 4.88 19 Cytoplasm;Membrane NA 1 PE1 -NX_Q8N387 36294 334 4.93 11 Cell membrane;Secreted NA 1 PE1 -NX_Q8N392 74977 663 6.1 6 Cytosol;Cytoplasm;Cell membrane;Nucleus speckle NA 0 PE1 -NX_Q8N393 89815 782 9.39 7 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q8N394 94130 836 8.94 12 Cytoskeleton;Cell membrane;Endoplasmic reticulum;Membrane NA 10 PE1 -NX_Q8N398 131668 1242 6.02 3 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8N3A8 95871 854 8.58 5 Cytosol;Cytoplasm;Midbody ring;Nucleoplasm;Nucleus;Cell junction NA 0 PE1 -NX_Q8N3C0 251460 2202 6.64 6 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleus speckle NA 0 PE1 -NX_Q8N3C7 76317 705 8.93 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q8N3D4 161854 1523 4.8 11 Cytosol;Endosome;Nucleolus;Cell membrane NA 0 PE1 -NX_Q8N3E9 89258 789 6.52 17 Cytoplasm;Cell membrane;Cleavage furrow;Membrane NA 0 PE1 -NX_Q8N3F0 14925 131 4.03 7 Cytosol NA 0 PE1 -NX_Q8N3F8 93441 863 6.88 22 Cytosol;Late endosome membrane;Recycling endosome membrane;Cell junction;Microtubule organizing center NA 0 PE1 -NX_Q8N3F9 47075 429 7.16 14 Cytoplasmic vesicle;Membrane NA 7 PE2 -NX_Q8N3G9 48329 435 6.07 7 Golgi apparatus membrane;Endoplasmic reticulum;Golgi apparatus NA 1 PE1 -NX_Q8N3H0 14620 131 9.46 12 Cytoplasm NA 0 PE1 -NX_Q8N3I7 38755 341 5.39 2 Cytoplasm;Centriolar satellite;Cilium basal body;Nucleus;Cilium membrane Bardet-Biedl syndrome 5 0 PE1 -NX_Q8N3J2 54041 472 6.39 18 Mitochondrion NA 0 PE1 -NX_Q8N3J3 69771 647 5.85 17 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8N3J5 40997 372 6.27 4 Mitochondrion;Mitochondrion matrix Maple syrup urine disease, mild variant 0 PE1 -NX_Q8N3J6 47554 435 5.17 3 Axon;Synapse;Cell membrane NA 1 PE1 -NX_Q8N3J9 30284 261 9.03 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N3K9 449211 4069 4.73 5 Cytoplasm;Perinuclear region;Sarcoplasmic reticulum;Nucleus;M line NA 0 PE1 -NX_Q8N3L3 76519 684 4.9 6 NA NA 0 PE1 -NX_Q8N3P4 161754 1428 5.41 3 Cytosol;Cell membrane;Early endosome NA 0 PE1 -NX_Q8N3R3 57925 496 8.9 3 Mitochondrion NA 0 PE1 -NX_Q8N3R9 77294 675 5.77 14 Nucleoplasm;Cytoplasm;Cell membrane;Endomembrane system;Cytosol;Tight junction NA 0 PE1 -NX_Q8N3S3 88757 785 9.09 7 Nucleoplasm;Cytosol;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q8N3T1 73063 639 6.44 3 Cytosol;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q8N3T6 121787 1108 5.95 12 Cytosol;Centrosome;Membrane NA 1 PE1 -NX_Q8N3U1 12695 123 5.54 19 NA NA 0 PE2 -NX_Q8N3U4 141326 1231 5.27 X Centromere;Nucleus;Chromosome NA 0 PE1 -NX_Q8N3V7 99463 929 8.92 5 Synapse;Perikaryon;Nucleoplasm;Cytosol;Dendritic spine;Postsynaptic density;Cytoskeleton;Tight junction NA 0 PE1 -NX_Q8N3X1 110266 1017 4.68 11 Nucleus speckle NA 0 PE1 -NX_Q8N3X6 66964 602 8.2 4 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q8N3Y1 67394 598 5.42 12 Cytosol;Perinuclear region;Golgi apparatus NA 0 PE1 -NX_Q8N3Y3 81787 721 7.69 11 Golgi apparatus membrane NA 1 PE1 -NX_Q8N3Y7 34095 309 8.72 8 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q8N3Z0 47098 413 9.72 6 Secreted NA 0 PE1 -NX_Q8N3Z3 32147 284 9.47 3 Mitochondrion NA 0 PE1 -NX_Q8N3Z6 63052 543 7.03 9 Cytosol;Nucleolus NA 0 PE1 -NX_Q8N402 26933 240 4.58 22 NA NA 0 PE2 -NX_Q8N412 50660 459 9.6 4 NA NA 0 PE2 -NX_Q8N413 31906 288 9.32 11 Cytosol;Nucleoplasm;Mitochondrion inner membrane NA 6 PE1 -NX_Q8N414 58464 524 9.03 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N423 65039 598 6.79 19 Cell membrane NA 1 PE1 -NX_Q8N427 67270 588 4.9 7 Cytoplasm Ciliary dyskinesia, primary, 6 0 PE1 -NX_Q8N428 63074 558 9.28 14 Golgi apparatus membrane;Nucleus NA 1 PE1 -NX_Q8N431 52870 466 7.58 5 Mitochondrion NA 0 PE2 -NX_Q8N434 53991 492 9.07 7 Membrane NA 10 PE2 -NX_Q8N436 85870 756 6.4 10 Secreted NA 0 PE1 -NX_Q8N441 54537 504 9.79 4 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q8N442 74328 669 8.75 4 Mitochondrion;Nucleus;Mitochondrion inner membrane Epileptic encephalopathy, early infantile, 40 0 PE1 -NX_Q8N443 44015 379 8.92 X Nucleus NA 0 PE1 -NX_Q8N446 37065 348 9.85 16 NA NA 0 PE1 -NX_Q8N448 76004 690 6.17 13 Cytosol;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q8N456 29737 261 9.83 10 Cytoplasm NA 0 PE1 -NX_Q8N461 51658 479 6.09 16 NA NA 0 PE1 -NX_Q8N465 56416 521 8.21 2 Mitochondrion D-2-hydroxyglutaric aciduria 1 0 PE1 -NX_Q8N468 56265 514 8.67 1 Endosome;Membrane NA 12 PE1 -NX_Q8N474 35386 314 9.1 8 Cytosol;Nucleolus;Secreted NA 0 PE1 -NX_Q8N475 95751 847 5.61 4 Secreted NA 0 PE1 -NX_Q8N485 31891 282 5.37 5 Cytosol;Cytoplasmic vesicle;Cytoskeleton NA 0 PE2 -NX_Q8N488 24822 228 9.66 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8N490 42876 385 9.22 2 Mitochondrion;Cytoplasm;Nucleus;Membrane Dystonia 8 0 PE1 -NX_Q8N4A0 66666 578 7.55 12 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q8N4B1 27215 249 9.18 12 Recycling endosome;Clathrin-coated vesicle;trans-Golgi network;Early endosome NA 0 PE1 -NX_Q8N4B4 52646 442 9.1 17 NA NA 0 PE2 -NX_Q8N4B5 30926 295 11.09 6 NA NA 0 PE1 -NX_Q8N4C0 16682 152 10.45 9 NA NA 0 PE2 -NX_Q8N4C6 243249 2090 4.99 14 Centriole;Cytoplasm;Nucleolus;Nucleus;Centrosome Seckel syndrome 7 0 PE1 -NX_Q8N4C7 34324 294 7.05 3 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q8N4C8 149822 1332 7.85 17 Axon;Dendrite;Cytoplasm;Golgi apparatus;Postsynaptic density NA 0 PE1 -NX_Q8N4C9 30555 275 9.62 17 Membrane NA 1 PE2 -NX_Q8N4E4 28071 241 4.79 4 NA NA 0 PE1 -NX_Q8N4E7 27538 242 6.79 5 Mitochondrion NA 0 PE1 -NX_Q8N4F0 49172 458 8.82 20 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q8N4F4 35933 322 5.39 11 Membrane NA 6 PE2 -NX_Q8N4F7 38266 328 9.07 4 Membrane NA 5 PE1 -NX_Q8N4G2 21588 192 8.93 3 Cytoplasmic vesicle NA 0 PE1 -NX_Q8N4H0 45058 392 9.22 9 NA NA 0 PE1 -NX_Q8N4H5 6035 51 9.69 9 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_Q8N4J0 47186 409 5.93 9 Cytosol;Nucleus NA 0 PE1 -NX_Q8N4K4 12312 120 5.51 17 Membrane NA 1 PE2 -NX_Q8N4L1 51278 468 8.31 11 Cytosol;Nucleolus;Membrane NA 2 PE1 -NX_Q8N4L2 28081 257 9.07 8 Late endosome membrane;Lysosome membrane NA 2 PE1 -NX_Q8N4L4 34773 309 8.07 17 Cytoplasm;Membrane NA 1 PE1 -NX_Q8N4L8 34322 307 6.57 1 Cytosol;Cell membrane NA 0 PE1 -NX_Q8N4M1 73783 653 7.92 1 Membrane NA 8 PE1 -NX_Q8N4M7 19474 172 5.3 10 NA NA 0 PE2 -NX_Q8N4N3 69896 616 5.85 16 Cytosol NA 0 PE1 -NX_Q8N4N8 76254 673 8.89 17 Kinetochore;Cytoskeleton;Nucleolus;Spindle;Centrosome NA 0 PE1 -NX_Q8N4P2 76099 665 5.12 2 Cilium NA 0 PE1 -NX_Q8N4P3 20329 179 6.25 15 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8N4P6 61825 559 9.3 1 NA NA 0 PE1 -NX_Q8N4Q0 40140 377 8.38 18 Cytoplasmic vesicle;Nucleus;Golgi apparatus;Peroxisome NA 0 PE1 -NX_Q8N4Q1 15996 142 4.23 3 Mitochondrion;Mitochondrion intermembrane space NA 0 PE1 -NX_Q8N4S0 64002 544 4.91 11 Cytosol;Nucleus NA 0 PE1 -NX_Q8N4S7 29126 273 9.26 16 Cytoplasmic vesicle;Membrane NA 6 PE1 -NX_Q8N4S9 64168 558 7.21 5 Cell membrane;Cell junction;Tight junction Deafness, autosomal recessive, 49 6 PE1 -NX_Q8N4T0 51008 437 9.58 8 Extracellular matrix Epilepsy, familial temporal lobe, 5;Febrile seizures, familial, 11 0 PE1 -NX_Q8N4T4 38295 335 9.71 9 Cell membrane NA 0 PE1 -NX_Q8N4T8 25301 237 9.4 4 Mitochondrion matrix NA 0 PE1 -NX_Q8N4U5 58091 519 4.89 12 Nucleus speckle NA 0 PE1 -NX_Q8N4V1 14686 131 9.2 X Endoplasmic reticulum membrane;Early endosome membrane;Golgi apparatus membrane NA 2 PE1 -NX_Q8N4V2 60769 548 5.6 12 Synaptic vesicle membrane NA 12 PE1 -NX_Q8N4W6 38086 341 9.39 12 Cytoplasmic vesicle;Membrane NA 7 PE1 -NX_Q8N4W9 104825 903 9.59 19 Nucleus NA 0 PE1 -NX_Q8N4X5 91300 818 5.22 10 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8N4Y2 44956 399 5.28 11 Nucleus NA 0 PE1 -NX_Q8N4Z0 24133 218 6.59 1 Endoplasmic reticulum;Membrane NA 0 PE1 -NX_Q8N511 23130 208 9.09 17 COPI-coated vesicle membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane Congenital disorder of glycosylation 2P 2 PE1 -NX_Q8N531 58588 539 9.51 8 Nucleus NA 0 PE1 -NX_Q8N535 12106 108 5.44 2 NA NA 0 PE5 -NX_Q8N539 50744 461 6.02 9 Cell junction;Membrane NA 1 PE1 -NX_Q8N543 63246 542 5.03 16 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8N554 67219 614 8.87 16 Kinetochore;Cytosol;Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_Q8N556 80725 730 8.87 4 Cytosol;Focal adhesion;Cytoskeleton;Stress fiber NA 0 PE1 -NX_Q8N565 24927 214 5.53 2 Cytoplasmic vesicle;Apical cell membrane NA 0 PE1 -NX_Q8N567 30477 271 9.33 5 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_Q8N568 83606 766 8.63 4 Cytoskeleton NA 0 PE1 -NX_Q8N573 97970 874 5.32 8 Cytoplasmic vesicle;Mitochondrion NA 0 PE1 -NX_Q8N584 65870 583 6.59 18 Nucleoplasm NA 0 PE1 -NX_Q8N587 55197 486 9.09 19 Nucleus NA 0 PE1 -NX_Q8N594 50662 471 5.49 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q8N5A5 57359 531 5.3 20 Nucleus;Cell membrane NA 0 PE1 -NX_Q8N5B7 45752 392 8.21 12 Endoplasmic reticulum membrane;Nucleolus;Nucleus;Nucleus membrane NA 6 PE1 -NX_Q8N5C1 35170 309 8.49 6 Golgi apparatus;Membrane NA 4 PE1 -NX_Q8N5C6 111776 995 8.94 2 Mitochondrion;Cytosol NA 0 PE1 -NX_Q8N5C7 35248 304 8.65 15 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 -NX_Q8N5C8 78653 712 8.81 X Cytosol;Nucleus speckle NA 0 PE1 -NX_Q8N5D0 75920 677 6.85 1 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q8N5D6 40127 347 8.68 9 Golgi apparatus membrane NA 1 PE1 -NX_Q8N5F7 47138 415 10.12 X Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q8N5G0 7702 67 9.86 4 Cytosol;Nucleus;Nucleolus;Mitochondrion inner membrane NA 1 PE1 -NX_Q8N5G2 76178 664 9.17 1 Cytosol;Axon;Rough endoplasmic reticulum membrane;Nucleus membrane NA 4 PE1 -NX_Q8N5H3 20147 189 5.1 11 Cytoplasm;Lamellipodium NA 0 PE1 -NX_Q8N5H7 94411 860 8.2 9 Cytoplasm;Membrane NA 0 PE1 -NX_Q8N5I2 45981 433 6.53 9 Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_Q8N5I3 31048 272 6.91 13 Cytoplasmic vesicle;Endoplasmic reticulum NA 0 PE1 -NX_Q8N5I4 36443 330 9.1 X Cytosol;Cytoskeleton;Secreted NA 0 PE1 -NX_Q8N5I9 20123 185 5.1 12 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q8N5J2 51778 469 4.75 1 Nucleoplasm NA 0 PE1 -NX_Q8N5J4 29180 248 9.02 12 Nucleus NA 0 PE2 -NX_Q8N5K1 15278 135 9.66 4 Endoplasmic reticulum membrane;Endoplasmic reticulum;Mitochondrion outer membrane Wolfram syndrome 2 1 PE1 -NX_Q8N5L8 17631 163 10.32 9 Nucleus NA 0 PE1 -NX_Q8N5M1 32772 289 6.62 17 Cytosol;Mitochondrion Mitochondrial complex V deficiency, nuclear type 1 0 PE1 -NX_Q8N5M4 20013 171 9.02 11 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q8N5M9 21125 183 9.72 3 Endoplasmic reticulum membrane;Cytoplasm;Cytoplasmic vesicle;Nucleus;Endoplasmic reticulum Neutropenia, severe congenital 6, autosomal recessive 4 PE1 -NX_Q8N5N4 15686 141 9.89 3 NA NA 0 PE2 -NX_Q8N5N7 18325 158 7.73 9 Cytosol;Cytoplasmic vesicle;Mitochondrion NA 0 PE1 -NX_Q8N5P1 33576 291 8.55 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N5Q1 99915 922 9.45 19 NA NA 0 PE1 -NX_Q8N5R6 107216 958 6.32 15 NA NA 0 PE1 -NX_Q8N5S1 40795 370 9.35 19 Mitochondrion inner membrane NA 6 PE1 -NX_Q8N5S3 32142 287 9.07 2 NA NA 0 PE1 -NX_Q8N5S9 55735 505 5.55 17 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8N5T2 60208 526 5.67 4 Nucleoplasm;Nucleus membrane NA 0 PE1 -NX_Q8N5U0 36368 333 8.57 11 NA NA 0 PE1 -NX_Q8N5U1 25050 240 5.63 11 Membrane NA 4 PE2 -NX_Q8N5U6 89927 811 6.48 12 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q8N5V2 82496 710 5.42 2 Cytosol;Cytoplasm;Growth cone;Cell membrane;Membrane NA 0 PE1 -NX_Q8N5W8 10147 94 6.68 10 Secreted NA 0 PE1 -NX_Q8N5W9 22882 214 5.27 17 Cytosol;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q8N5X7 24441 224 5.98 3 Nucleolus NA 0 PE1 -NX_Q8N5Y2 59824 521 8.4 X Nucleus NA 0 PE1 -NX_Q8N5Y8 36383 322 9.17 15 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8N5Z0 47352 425 6.47 4 Mitochondrion;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q8N5Z5 35670 321 4.82 22 Cytoplasm Dystonia 26, myoclonic 0 PE1 -NX_Q8N608 90888 796 6.11 2 Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane Asthma 1 PE1 -NX_Q8N609 42162 369 9.38 4 Mitochondrion;Endoplasmic reticulum membrane;Endoplasmic reticulum NA 8 PE1 -NX_Q8N612 105568 972 6.33 11 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8N614 34323 296 7.98 4 Membrane NA 2 PE2 -NX_Q8N616 12924 119 6.53 16 NA NA 0 PE5 -NX_Q8N628 35376 320 7.13 1 Cell membrane NA 7 PE2 -NX_Q8N635 49313 442 5.98 16 Cytoplasm;Nucleolus;Nucleus;Chromosome Spermatogenic failure 22 0 PE1 -NX_Q8N653 94719 840 6.12 22 NA Schwannomatosis 2;Noonan syndrome 10 0 PE1 -NX_Q8N660 77563 670 4.63 1 Cytoplasm NA 0 PE2 -NX_Q8N661 24352 226 6.15 19 Cytoplasm;Midbody;Centrosome;Membrane NA 7 PE1 -NX_Q8N668 21178 190 5.85 2 Endosome membrane;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Cytosol;Nucleus;Early endosome;Recycling endosome NA 0 PE1 -NX_Q8N680 57337 514 5.71 6 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N682 26253 238 6.39 12 Lysosome membrane NA 6 PE1 -NX_Q8N684 52050 471 7.82 11 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8N687 17537 156 5.31 20 Secreted NA 0 PE2 -NX_Q8N688 8105 67 9.77 20 Secreted NA 0 PE2 -NX_Q8N690 9822 84 8.92 20 Secreted NA 0 PE1 -NX_Q8N693 44297 406 5.19 X Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q8N695 66578 610 7.9 12 Apical cell membrane NA 13 PE1 -NX_Q8N697 62034 577 9.2 12 Nucleoplasm;Membrane NA 12 PE1 -NX_Q8N699 26593 235 9.88 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N6C5 148936 1336 5.63 X Cytosol;Membrane;Secreted Hypothyroidism, central, and testicular enlargement 2 PE1 -NX_Q8N6C7 14321 128 10.38 19 NA NA 0 PE5 -NX_Q8N6C8 47472 439 8.37 19 Secreted NA 0 PE1 -NX_Q8N6D2 27402 247 5.82 6 Cytoplasmic vesicle;Cytoplasm;Nucleus;Golgi apparatus;Membrane NA 2 PE1 -NX_Q8N6D5 32442 301 9.46 18 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N6F1 23229 224 8.49 1 Cell membrane;Tight junction Hypomagnesemia 5, renal, with or without ocular involvement 4 PE1 -NX_Q8N6F7 21005 178 6.07 3 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8N6F8 26522 245 5.74 7 Focal adhesion NA 0 PE1 -NX_Q8N6G1 10504 96 9.35 1 NA NA 0 PE5 -NX_Q8N6G2 33595 289 9.4 13 NA NA 0 PE1 -NX_Q8N6G5 62572 542 5.5 10 Golgi stack membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q8N6G6 193409 1762 8.18 9 Extracellular matrix NA 0 PE1 -NX_Q8N6H7 56720 521 8.08 11 Cytoplasm;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 -NX_Q8N6I1 25190 236 6.94 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N6I4 18747 163 8.38 14 Cell junction;Golgi apparatus;Membrane NA 2 PE1 -NX_Q8N6K0 16649 151 4.99 13 Membrane NA 1 PE1 -NX_Q8N6K4 17423 173 9.65 16 NA NA 0 PE2 -NX_Q8N6K7 61237 520 6.67 6 NA NA 0 PE1 -NX_Q8N6L0 62783 562 4.65 19 Telomere;Nucleus;Nucleus outer membrane NA 1 PE1 -NX_Q8N6L1 14679 136 9.67 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 3 PE1 -NX_Q8N6L7 18703 170 4.88 9 Membrane NA 2 PE2 -NX_Q8N6M0 33813 293 5.77 8 Cytosol;Nucleoplasm;Golgi apparatus Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0 PE1 -NX_Q8N6M3 29855 262 8.93 20 Endoplasmic reticulum membrane NA 6 PE1 -NX_Q8N6M5 43559 391 5.79 2 NA NA 0 PE2 -NX_Q8N6M6 93572 819 5.81 9 Cytoplasm;Cell junction NA 0 PE1 -NX_Q8N6M8 23699 205 9.68 3 Acrosome NA 0 PE1 -NX_Q8N6M9 16477 145 8.7 7 Cytoplasm;Nucleus NA 0 PE2 -NX_Q8N6N2 25932 239 9.55 19 NA NA 0 PE1 -NX_Q8N6N3 20599 182 5.14 1 Nucleus NA 0 PE1 -NX_Q8N6N6 13032 113 8.84 17 NA NA 0 PE1 -NX_Q8N6N7 9790 88 6.26 10 Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q8N6P7 63077 574 5.81 1 Membrane NA 1 PE1 -NX_Q8N6Q1 34174 288 5.83 15 Membrane NA 1 PE1 -NX_Q8N6Q3 46363 437 5.87 19 Lamellipodium;Secreted;Membrane raft;Cell membrane;Cytoplasmic granule membrane NA 0 PE1 -NX_Q8N6Q8 68213 603 6.69 12 Mitochondrion;Cytosol;Cell membrane NA 0 PE1 -NX_Q8N6R0 78768 699 6.29 1 Cytosol NA 0 PE1 -NX_Q8N6R1 7431 65 10.61 13 Endoplasmic reticulum membrane;Membrane NA 1 PE1 -NX_Q8N6S4 60818 541 6.46 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q8N6S5 24676 226 5.94 2 Cytosol;Nucleus membrane;Membrane NA 3 PE1 -NX_Q8N6T0 64047 577 6.2 11 Centrosome;Chromosome NA 0 PE2 -NX_Q8N6T3 44668 406 5.46 20 Cytoplasmic vesicle;Cytoplasm;Nucleus membrane;Golgi apparatus NA 0 PE1 -NX_Q8N6T7 39119 355 9.31 19 Nucleoplasm NA 0 PE1 -NX_Q8N6U2 18370 182 11.05 12 NA NA 0 PE5 -NX_Q8N6U8 58559 529 8.56 1 Cilium membrane;Nucleolus;Nucleus;Cell membrane NA 7 PE1 -NX_Q8N6V4 10399 93 5.02 10 NA NA 0 PE1 -NX_Q8N6V9 44826 391 6.21 15 Cytosol;Cell membrane NA 0 PE1 -NX_Q8N6W0 52355 485 8.57 19 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8N6Y0 76068 703 5.58 19 NA NA 0 PE1 -NX_Q8N6Y1 104919 951 4.91 13 Cytoplasmic vesicle;Cytoskeleton;Cell membrane NA 1 PE1 -NX_Q8N6Y2 51800 441 8.5 7 Nucleoplasm;Extracellular space;Cell membrane;Nucleus speckle NA 0 PE1 -NX_Q8N715 72349 623 10.13 1 NA NA 0 PE1 -NX_Q8N720 57407 491 6.7 7 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q8N726 13903 132 12.41 9 Mitochondrion;Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q8N729 18048 165 11.62 16 Secreted NA 0 PE1 -NX_Q8N743 44928 410 7.27 19 Cell membrane NA 1 PE2 -NX_Q8N752 39086 337 9.48 13 Cytoplasm NA 0 PE1 -NX_Q8N755 22575 202 9.14 2 Cytosol;Membrane NA 4 PE1 -NX_Q8N766 111759 993 7.38 1 Cytoskeleton;Membrane Cerebellar atrophy, visual impairment, and psychomotor retardation 1 PE1 -NX_Q8N769 13377 122 5.55 14 NA NA 0 PE2 -NX_Q8N782 23070 197 8.98 19 Nucleus NA 0 PE1 -NX_Q8N7A1 46720 406 5.67 14 Cytosol;Cytoplasm NA 0 PE2 -NX_Q8N7B1 35284 307 6.86 22 Nucleus;Chromosome NA 0 PE1 -NX_Q8N7B6 27152 248 9.71 4 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q8N7B9 50147 438 9.31 17 NA NA 0 PE1 -NX_Q8N7C0 35126 313 5.44 1 Cell membrane NA 1 PE1 -NX_Q8N7C3 43983 387 5.52 4 Cytosol;Cell membrane NA 0 PE1 -NX_Q8N7C4 26582 229 9.33 6 Nucleolus;Membrane NA 4 PE2 -NX_Q8N7C7 34397 305 8.49 7 Membrane NA 1 PE1 -NX_Q8N7E2 48785 425 9.57 X Cytoplasm NA 0 PE1 -NX_Q8N7F7 19909 174 5.63 1 Mitochondrion;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q8N7G0 36051 328 10.11 5 Nucleus NA 0 PE1 -NX_Q8N7H1 13435 131 11.32 12 NA NA 0 PE2 -NX_Q8N7H5 59976 531 4.53 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N7I0 21479 195 8.73 9 Mitochondrion NA 0 PE2 -NX_Q8N7J2 69507 671 6.55 13 Cell membrane NA 0 PE1 -NX_Q8N7K0 77243 673 9.38 19 Nucleus NA 0 PE1 -NX_Q8N7L0 16362 139 11.54 13 NA NA 0 PE2 -NX_Q8N7M0 20730 179 9.04 1 NA NA 0 PE1 -NX_Q8N7M2 77942 679 8.62 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N7N1 32865 296 6 8 NA NA 0 PE2 -NX_Q8N7P1 61312 536 8.93 1 Cytosol;Cytoplasmic vesicle;Mitochondrion;Membrane NA 1 PE1 -NX_Q8N7P3 24509 220 5.7 4 Tight junction;Cell membrane NA 4 PE2 -NX_Q8N7P7 48314 452 10.01 8 NA NA 0 PE2 -NX_Q8N7Q2 20470 184 9.22 10 Secreted NA 0 PE5 -NX_Q8N7Q3 67624 588 9.1 19 Nucleus NA 0 PE2 -NX_Q8N7R0 26880 232 9.08 12 Nucleus NA 0 PE5 -NX_Q8N7R1 31848 296 9.32 7 NA NA 0 PE1 -NX_Q8N7R7 40705 359 5.7 2 Cell membrane NA 0 PE1 -NX_Q8N7S2 21433 189 7.92 2 Membrane NA 0 PE2 -NX_Q8N7S6 30424 290 11.74 3 Membrane NA 1 PE2 -NX_Q8N7U6 93802 833 7.51 3 Nucleolus NA 0 PE1 -NX_Q8N7U7 40603 411 10 19 Nucleus NA 0 PE2 -NX_Q8N7U9 15976 141 5.8 17 NA NA 0 PE5 -NX_Q8N7W2 57549 519 9.26 10 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 -NX_Q8N7X0 189713 1667 8.49 6 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q8N7X1 114938 1067 9.19 X NA NA 0 PE1 -NX_Q8N7X2 42496 386 10.01 9 Cytoplasmic vesicle NA 0 PE1 -NX_Q8N7X4 43992 407 5.39 X NA NA 0 PE1 -NX_Q8N7X8 21283 197 9.59 19 Membrane NA 1 PE2 -NX_Q8N7Y1 25772 241 10.92 11 NA NA 0 PE5 -NX_Q8N7Z2 83069 668 5.25 15 NA NA 0 PE2 -NX_Q8N7Z5 210816 1873 5.82 5 NA NA 0 PE5 -NX_Q8N801 27807 248 9.61 2 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q8N806 47999 425 4.7 14 Nucleus NA 0 PE1 -NX_Q8N807 66657 584 6.41 16 Endoplasmic reticulum NA 0 PE1 -NX_Q8N808 35381 338 6.63 17 Membrane NA 9 PE2 -NX_Q8N812 14959 135 6.63 12 Cytoskeleton;Cell membrane NA 0 PE2 -NX_Q8N813 26007 242 8.48 3 NA NA 0 PE2 -NX_Q8N814 14437 137 5.26 7 NA NA 0 PE5 -NX_Q8N815 36921 330 6.46 17 Nucleoplasm;Focal adhesion;Cell membrane NA 0 PE2 -NX_Q8N816 27975 258 6.33 17 Membrane NA 3 PE2 -NX_Q8N819 46170 430 6.21 19 Cytoplasmic vesicle NA 0 PE2 -NX_Q8N823 81449 705 9.16 19 Nucleus NA 0 PE1 -NX_Q8N831 45874 410 5.45 2 Cytosol;Nucleolus;Centrosome NA 0 PE1 -NX_Q8N841 96401 843 9.03 17 Cytoplasmic vesicle;Cytoskeleton;Cilium;Cilium basal body NA 0 PE1 -NX_Q8N859 50172 430 6.51 7 Nucleolus;Nucleus NA 0 PE1 -NX_Q8N865 68464 590 6.9 7 Nucleoplasm;Mitochondrion;Centrosome NA 0 PE1 -NX_Q8N878 62523 549 8.52 6 Cytoskeleton NA 0 PE2 -NX_Q8N883 67215 585 9.25 19 Cytosol;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8N884 58814 522 9.54 6 Cytosol;Microtubule organizing center NA 0 PE1 -NX_Q8N888 16258 145 9.12 Y NA NA 0 PE5 -NX_Q8N895 85107 744 8.88 5 Nucleus NA 0 PE1 -NX_Q8N8A2 107603 993 5.85 2 Mitochondrion;Nucleus speckle NA 0 PE1 -NX_Q8N8A6 72457 666 8.43 12 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q8N8A8 21411 192 5.58 15 NA NA 0 PE2 -NX_Q8N8B7 40245 351 8.86 X NA NA 0 PE1 -NX_Q8N8C0 41526 355 10.4 19 Nucleoplasm;Nucleus NA 0 PE2 -NX_Q8N8D1 54700 485 9.97 15 Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_Q8N8D7 22620 197 5.41 8 Cell membrane NA 4 PE2 -NX_Q8N8D9 14652 126 6.77 5 Mitochondrion NA 0 PE2 -NX_Q8N8E1 13175 139 11.41 12 NA NA 0 PE5 -NX_Q8N8E2 57882 541 7.49 2 Nucleus Retinitis pigmentosa 58 0 PE1 -NX_Q8N8E3 112749 955 6.25 17 Nucleoplasm;Centrosome;Golgi apparatus NA 0 PE1 -NX_Q8N8F6 30632 280 4.76 4 Endoplasmic reticulum membrane;cis-Golgi network membrane;trans-Golgi network membrane NA 5 PE1 -NX_Q8N8F7 14462 131 5.22 7 Cytosol;Membrane NA 1 PE1 -NX_Q8N8G2 33426 317 6.33 6 Nucleus NA 0 PE1 -NX_Q8N8G6 21040 183 9.87 15 NA NA 0 PE2 -NX_Q8N8H1 18964 164 6.49 19 Nucleoplasm NA 0 PE5 -NX_Q8N8I0 22907 201 9.4 8 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q8N8I6 28326 264 11.2 17 NA NA 0 PE5 -NX_Q8N8J0 29179 262 6.83 22 NA NA 0 PE5 -NX_Q8N8J6 83739 731 9.35 19 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q8N8J7 14653 132 4.6 4 Golgi apparatus;Membrane NA 1 PE1 -NX_Q8N8K9 79212 716 6.38 9 Cytosol;Cell membrane NA 0 PE1 -NX_Q8N8L2 50950 437 9.45 19 Nucleus NA 0 PE2 -NX_Q8N8L6 27459 244 4.58 5 NA NA 0 PE1 -NX_Q8N8M0 40521 369 6.49 7 Nucleus NA 0 PE2 -NX_Q8N8N0 22357 203 8.2 18 Lysosome membrane NA 1 PE1 -NX_Q8N8N7 38499 351 5.27 14 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q8N8P6 13896 123 9.36 X NA NA 0 PE2 -NX_Q8N8P7 13691 122 5.58 11 Secreted NA 0 PE2 -NX_Q8N8Q1 25424 229 10.02 1 Membrane NA 6 PE2 -NX_Q8N8Q3 30792 282 8.34 17 Cytoplasm;Nucleolus NA 0 PE1 -NX_Q8N8Q8 37063 333 9.86 4 Mitochondrion inner membrane NA 3 PE1 -NX_Q8N8Q9 39185 360 8.46 15 Golgi apparatus;Cell membrane;Early endosome NA 9 PE1 -NX_Q8N8R3 32062 303 9.03 14 Mitochondrion inner membrane NA 6 PE1 -NX_Q8N8R5 43448 385 8.31 2 Secreted NA 0 PE1 -NX_Q8N8R7 29338 260 8.42 11 Cytosol;Cytoplasm;Focal adhesion;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q8N8S7 66510 591 6.51 1 Synapse;Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Filopodium;Lamellipodium;Cytoskeleton NA 0 PE1 -NX_Q8N8U2 56500 506 8.99 16 Nucleus NA 0 PE1 -NX_Q8N8U3 52817 475 4.43 X Nucleoplasm;Nucleus;Golgi apparatus;Cell membrane NA 0 PE2 -NX_Q8N8U9 75997 685 8.18 7 Secreted Diaphanospondylodysostosis 0 PE1 -NX_Q8N8V2 72513 638 5.72 1 Membrane NA 0 PE1 -NX_Q8N8V4 46597 417 4.99 16 Microvillus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8N8V8 13990 129 11.62 17 Membrane NA 2 PE2 -NX_Q8N8W4 57875 532 8.35 6 Cytoplasm;Cytoskeleton Ichthyosis, congenital, autosomal recessive 10 0 PE1 -NX_Q8N8X9 42357 362 8.84 1 Nucleoplasm NA 0 PE1 -NX_Q8N8Y2 40426 350 5.18 8 Cytoplasmic vesicle NA 0 PE1 -NX_Q8N8Y5 22806 198 9.46 8 Nucleolus;Nucleus;Cell membrane NA 0 PE2 -NX_Q8N8Z3 24207 221 11.22 10 NA NA 0 PE2 -NX_Q8N8Z6 77920 715 8.26 6 Membrane NA 1 PE1 -NX_Q8N8Z8 80136 693 8.82 19 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q8N907 20180 189 9.89 19 Mitochondrion;Secreted NA 0 PE2 -NX_Q8N910 17040 161 11.89 15 NA NA 0 PE2 -NX_Q8N912 18051 160 11.21 14 Cell membrane NA 1 PE2 -NX_Q8N944 90445 861 5.48 2 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q8N945 21905 189 8.98 5 Nucleoplasm NA 0 PE1 -NX_Q8N954 33277 285 5.68 2 Kinetochore;Nucleus NA 0 PE1 -NX_Q8N957 87604 763 8.69 17 NA NA 0 PE2 -NX_Q8N960 112640 986 5.9 5 Cytosol;Cytoskeleton;Centrosome Short-rib thoracic dysplasia 13 with or without polydactyly;Joubert syndrome 31 0 PE1 -NX_Q8N961 113656 1025 5.87 11 Nucleus NA 0 PE1 -NX_Q8N966 29100 263 9.5 14 Cell membrane;Membrane NA 2 PE1 -NX_Q8N967 41158 370 8.17 12 Membrane NA 1 PE1 -NX_Q8N972 74652 641 9.22 19 Nucleus NA 0 PE1 -NX_Q8N976 14881 141 6.53 7 NA NA 0 PE5 -NX_Q8N983 23431 215 8.97 10 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q8N987 40571 351 4.83 8 Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_Q8N988 48627 423 9.22 19 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q8N998 43809 374 5.33 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8N999 37490 325 6.6 12 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q8N9A8 14267 125 8.71 16 Cytosol;Cytoplasm;Nucleus membrane NA 2 PE1 -NX_Q8N9B4 43052 389 6.01 11 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q8N9B5 111445 988 5.88 5 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q8N9B8 54556 481 7.6 10 Golgi apparatus NA 0 PE1 -NX_Q8N9C0 100400 903 6.7 11 NA NA 0 PE2 -NX_Q8N9E0 28941 248 10.1 X NA NA 0 PE1 -NX_Q8N9F0 32837 302 9.05 4 Microsome membrane;Cytoplasm;Rough endoplasmic reticulum membrane;Membrane;Mitochondrion;Mitochondrion membrane N-acetylaspartate deficiency 1 PE1 -NX_Q8N9F7 36167 314 8.66 17 Cytoplasm;Perinuclear region;Membrane NA 2 PE1 -NX_Q8N9F8 60008 522 8.96 5 Nucleus NA 0 PE1 -NX_Q8N9G6 37462 341 10.42 10 NA NA 0 PE2 -NX_Q8N9H6 14527 132 9.23 8 NA NA 0 PE5 -NX_Q8N9H8 96598 876 8.6 9 Cytoskeleton;Focal adhesion NA 0 PE1 -NX_Q8N9H9 69787 656 5.32 1 NA NA 0 PE2 -NX_Q8N9I0 46872 419 8.18 1 Cytoplasmic vesicle;Synaptic vesicle membrane;Chromaffin granule membrane Myasthenic syndrome, congenital, 7, presynaptic 1 PE1 -NX_Q8N9I5 40447 356 8.13 17 Membrane NA 6 PE2 -NX_Q8N9I9 37988 347 9.02 12 Cytoplasm;Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8N9K5 62445 539 8.58 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N9L1 36567 334 9.61 3 Cytosol;Nucleus NA 0 PE1 -NX_Q8N9L7 13535 120 9.8 22 NA NA 0 PE5 -NX_Q8N9L9 46327 421 8.31 14 Peroxisome NA 0 PE1 -NX_Q8N9M1 44746 422 10.12 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N9M5 54175 508 5.59 17 Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_Q8N9N2 45509 400 5.36 10 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm Barrett esophagus;Spinal muscular atrophy with congenital bone fractures 2 0 PE1 -NX_Q8N9N5 56494 519 5.27 16 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N9N7 26754 239 8.7 15 Mitochondrion;Cytosol;Membrane NA 0 PE1 -NX_Q8N9N8 19053 165 5.14 11 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q8N9P0 25159 234 11.75 6 NA NA 0 PE5 -NX_Q8N9P6 22154 203 11.66 9 NA NA 0 PE2 -NX_Q8N9Q2 18177 155 9.86 5 Nucleolus;Nucleus NA 0 PE1 -NX_Q8N9R0 15610 145 11.42 16 NA NA 0 PE5 -NX_Q8N9R6 17514 151 10.05 17 Mitochondrion NA 0 PE2 -NX_Q8N9R8 70399 606 8.78 9 Cytoplasm;Nucleus;Nucleus membrane;Membrane NA 1 PE1 -NX_Q8N9S9 50802 440 6.62 8 Nucleoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q8N9T2 14163 125 9.29 X NA NA 0 PE5 -NX_Q8N9T8 82598 703 5.06 19 Nucleolus NA 0 PE1 -NX_Q8N9U0 55284 490 9.29 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N9U9 13254 137 12.18 X NA NA 0 PE5 -NX_Q8N9V2 53002 468 5.36 4 NA NA 0 PE1 -NX_Q8N9V3 52817 476 5.93 2 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q8N9V6 59571 530 9.58 2 Spindle;Spindle pole NA 0 PE1 -NX_Q8N9V7 190927 1692 8.16 3 Cytosol NA 0 PE1 -NX_Q8N9W4 100610 909 4.63 15 NA NA 0 PE1 -NX_Q8N9W5 59410 541 5.66 19 Mitochondrion;Cytoplasm;Nucleus Ciliary dyskinesia, primary, 2 0 PE1 -NX_Q8N9W6 31301 283 6.59 2 Cytoplasm NA 0 PE1 -NX_Q8N9W7 13731 124 8.96 15 Membrane NA 1 PE5 -NX_Q8N9W8 47076 422 5.6 14 NA NA 0 PE1 -NX_Q8N9X3 18887 169 11.31 1 NA NA 0 PE5 -NX_Q8N9X5 15361 138 8.88 8 Cytoplasm;Cell membrane;Membrane NA 2 PE5 -NX_Q8N9Y4 38724 354 9.75 14 NA NA 0 PE1 -NX_Q8N9Z0 53489 462 9.36 19 Nucleus NA 0 PE1 -NX_Q8N9Z2 26261 235 11.71 7 Cytosol;Cytoskeleton;Golgi apparatus NA 0 PE1 -NX_Q8N9Z9 43408 388 9.18 12 Nucleoplasm;Centrosome NA 0 PE1 -NX_Q8NA03 66121 581 5.08 15 Nucleoplasm NA 0 PE1 -NX_Q8NA19 71122 623 7.11 18 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8NA23 40840 367 8.65 9 Cytosol;Nucleus NA 0 PE1 -NX_Q8NA29 60170 543 6.51 1 Endoplasmic reticulum membrane;Cytosol;Cell membrane Microcephaly 15, primary, autosomal recessive 11 PE1 -NX_Q8NA31 83064 727 7.29 16 Nucleus inner membrane;Telomere NA 0 PE1 -NX_Q8NA42 54613 475 8.21 19 Cytoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q8NA47 66250 563 9.08 12 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q8NA54 92581 791 6.21 7 Cytosol;Nucleus speckle;Cytoskeleton NA 0 PE1 -NX_Q8NA56 55082 475 5.5 4 NA NA 0 PE1 -NX_Q8NA57 47326 414 8.79 12 NA NA 0 PE1 -NX_Q8NA58 60124 520 8.82 6 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8NA61 51570 448 6.7 13 Cell junction;Cell membrane NA 0 PE1 -NX_Q8NA66 50224 436 9.15 8 NA NA 0 PE1 -NX_Q8NA69 57331 505 9.04 19 NA NA 0 PE1 -NX_Q8NA70 73945 645 8.96 X NA NA 0 PE1 -NX_Q8NA72 63351 575 6.97 5 Centriole;Nucleus;Centrosome NA 0 PE1 -NX_Q8NA75 43747 395 8.85 8 NA NA 0 PE1 -NX_Q8NA77 18469 164 3.85 17 Cytoplasm NA 0 PE1 -NX_Q8NA82 90511 808 6.26 17 Cytosol;Cell membrane NA 0 PE1 -NX_Q8NA92 30082 274 10.24 19 Nucleoplasm NA 0 PE1 -NX_Q8NA96 19635 180 8.97 5 NA NA 0 PE5 -NX_Q8NA97 15156 138 8.17 8 NA NA 0 PE2 -NX_Q8NAA4 68998 619 9.2 11 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q8NAA5 37780 344 8.66 17 NA NA 0 PE1 -NX_Q8NAA6 19737 179 9.93 15 NA NA 0 PE2 -NX_Q8NAB2 69395 608 5.22 11 NA NA 0 PE1 -NX_Q8NAC3 86240 791 5.73 3 Cell membrane Candidiasis, familial, 9 1 PE1 -NX_Q8NAE3 13125 123 6.11 1 NA NA 0 PE2 -NX_Q8NAF0 60509 562 9.07 19 Nucleus NA 0 PE1 -NX_Q8NAG6 66890 615 5.98 19 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8NAJ2 25113 232 8.89 9 NA NA 0 PE2 -NX_Q8NAM6 48957 433 6.47 19 Nucleus;Telomere NA 0 PE1 -NX_Q8NAN2 71006 632 5.42 1 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_Q8NAP1 17846 163 8.78 7 NA NA 0 PE5 -NX_Q8NAP3 134257 1195 8.34 3 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q8NAP8 54175 495 4.98 1 Nucleus NA 0 PE1 -NX_Q8NAQ8 14168 132 11.48 16 NA NA 0 PE2 -NX_Q8NAS9 17397 161 4.87 5 NA NA 0 PE5 -NX_Q8NAT1 66615 580 8.81 3 Endoplasmic reticulum membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8 1 PE1 -NX_Q8NAT2 109737 981 8.31 1 Cytoplasm NA 0 PE1 -NX_Q8NAU1 23659 212 6.91 1 Peroxisome membrane;Cell membrane;Secreted NA 1 PE1 -NX_Q8NAV1 37477 312 9.97 1 Nucleus NA 0 PE1 -NX_Q8NAV2 39661 365 8.52 8 Nucleus NA 0 PE2 -NX_Q8NAX2 43642 398 6.1 1 Nucleoplasm;Cytoplasm;Spindle;Cell junction Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 0 PE1 -NX_Q8NB12 56617 490 6.66 2 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8NB14 116546 1042 5.82 4 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8NB15 29428 262 6.31 10 Nucleus NA 0 PE1 -NX_Q8NB16 54479 471 9 16 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8NB25 132965 1140 5.59 6 Nucleoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q8NB37 23298 220 6.14 11 Nucleoplasm;Secreted NA 0 PE1 -NX_Q8NB42 70902 609 8.35 19 Nucleus speckle;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8NB46 115077 1076 6.01 12 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q8NB49 129477 1132 6.25 X Endoplasmic reticulum membrane;Cell membrane Hemolytic anemia, congenital, X-linked 10 PE1 -NX_Q8NB50 102511 900 9.24 5 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q8NB59 62287 555 6.02 1 Cytoplasmic vesicle;Membrane Spinocerebellar ataxia, autosomal recessive, 11 1 PE1 -NX_Q8NB66 250911 2214 5.64 15 Cytoplasm;Presynaptic cell membrane;Membrane NA 0 PE1 -NX_Q8NB78 92098 822 8.13 6 Nucleus NA 0 PE1 -NX_Q8NB90 97904 893 5.5 4 Mitochondrion;Cytoplasm;Cytosol Epilepsy, hearing loss, and mental retardation syndrome 0 PE1 -NX_Q8NB91 97726 859 7.79 X Nucleus Fanconi anemia complementation group B 0 PE1 -NX_Q8NBA8 33416 298 8.95 5 Nucleus NA 0 PE1 -NX_Q8NBB2 13907 130 11.83 15 NA NA 0 PE5 -NX_Q8NBB4 45286 408 8.85 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q8NBC4 21159 194 11.74 20 Cytoplasm NA 0 PE2 -NX_Q8NBD8 19531 167 5.68 14 Membrane NA 4 PE2 -NX_Q8NBE8 63923 558 5.4 2 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q8NBF1 65976 620 7.56 1 Nucleus NA 0 PE1 -NX_Q8NBF2 79444 726 5.33 10 Nucleoplasm NA 0 PE1 -NX_Q8NBF4 16182 154 11.26 7 NA NA 0 PE5 -NX_Q8NBF6 71947 648 5.79 7 Recycling endosome;Endoplasmic reticulum;Membrane NA 1 PE1 -NX_Q8NBH2 63855 561 7.1 3 Nucleoplasm;Cytoskeleton;Z line Myopathy, myofibrillar, 7 0 PE1 -NX_Q8NBI2 27214 242 9.64 11 Lysosome membrane;Late endosome membrane NA 6 PE1 -NX_Q8NBI3 38650 349 7.62 1 Secreted NA 0 PE1 -NX_Q8NBI5 54529 491 8.81 11 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Membrane NA 12 PE1 -NX_Q8NBI6 43807 393 8.35 3 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8NBJ4 45333 401 4.91 9 cis-Golgi network membrane;Golgi apparatus NA 1 PE1 -NX_Q8NBJ5 71636 622 6.85 19 Cytoplasmic vesicle;Endoplasmic reticulum lumen NA 0 PE1 -NX_Q8NBJ7 33843 301 7.78 7 Cytoplasmic vesicle;Endoplasmic reticulum lumen;Cell membrane NA 0 PE1 -NX_Q8NBJ9 94454 832 6.55 11 Lysosome membrane;Cell membrane NA 10 PE1 -NX_Q8NBK3 40556 374 6.18 3 Endoplasmic reticulum lumen Multiple sulfatase deficiency 0 PE1 -NX_Q8NBL1 46189 392 8.91 3 Endoplasmic reticulum lumen Dowling-Degos disease 4;Limb-girdle muscular dystrophy 2Z 0 PE1 -NX_Q8NBL3 33019 297 8.83 2 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nucleus NA 3 PE1 -NX_Q8NBM4 38964 344 9.21 13 Endoplasmic reticulum membrane;Cytosol NA 3 PE1 -NX_Q8NBM8 54646 494 6.81 5 Nucleoplasm;Mitochondrion;Secreted NA 0 PE1 -NX_Q8NBN3 63430 555 6.32 15 Golgi apparatus membrane;Golgi apparatus NA 7 PE1 -NX_Q8NBN7 35932 331 8.23 19 Mitochondrion;Cytosol NA 0 PE1 -NX_Q8NBP0 96813 860 6.56 1 Nucleoplasm NA 0 PE1 -NX_Q8NBP5 50619 474 9.28 2 Nucleolus;Membrane NA 9 PE1 -NX_Q8NBP7 74286 692 6.14 1 Endosome;Golgi apparatus;Secreted;Cytoplasm;Lysosome;Endoplasmic reticulum;Cell surface Hypercholesterolemia, autosomal dominant, 3 0 PE1 -NX_Q8NBQ5 32936 300 9.2 4 Lipid droplet;Secreted NA 0 PE1 -NX_Q8NBQ7 30203 271 8.08 11 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 6 PE1 -NX_Q8NBR0 42238 393 10.97 17 Cytoplasm;Cell membrane NA 1 PE1 -NX_Q8NBR6 67106 621 4.44 15 Nucleoplasm NA 0 PE1 -NX_Q8NBR9 27887 251 9.56 11 NA NA 0 PE2 -NX_Q8NBS3 99581 891 7.59 20 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Membrane Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy;Corneal dystrophy and perceptive deafness 11 PE1 -NX_Q8NBS9 47629 432 5.63 6 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 -NX_Q8NBT0 45009 407 7.31 3 Centriole;Cilium basal body;Centrosome;Spindle pole Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 0 PE1 -NX_Q8NBT2 22478 197 4.65 19 Kinetochore;Nucleolus;Nucleus NA 0 PE1 -NX_Q8NBT3 55534 493 8.88 19 Cytoplasmic vesicle;Membrane NA 8 PE2 -NX_Q8NBU5 40744 361 6.43 10 Nucleolus;Cytoplasm;Nucleus;Peroxisome;Mitochondrion;Postsynaptic cell membrane Hyperekplexia 4 0 PE1 -NX_Q8NBV4 29448 271 9.98 9 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nucleus;Nucleus envelope;Membrane NA 4 PE1 -NX_Q8NBV8 44138 401 9.65 11 Nucleoplasm;Acrosome;Cell membrane;Cell junction NA 1 PE1 -NX_Q8NBW4 63776 561 7.59 5 Cytoplasmic vesicle;Nucleoplasm;Lysosome membrane;Late endosome membrane NA 11 PE1 -NX_Q8NBX0 47151 429 9.24 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q8NBZ0 26478 244 8.41 16 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q8NBZ7 47577 420 8.99 2 Golgi stack membrane NA 1 PE1 -NX_Q8NBZ9 25156 246 10.69 1 NA NA 0 PE5 -NX_Q8NC01 31952 280 5.93 12 Membrane NA 1 PE1 -NX_Q8NC06 30308 268 6.83 17 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q8NC24 32405 303 6.42 5 Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_Q8NC26 47747 417 8.9 19 Cytosol;Nucleus NA 0 PE1 -NX_Q8NC38 14381 126 9.35 1 NA NA 0 PE2 -NX_Q8NC42 43165 400 6.08 2 Cytoplasmic vesicle;Cell membrane;Membrane NA 1 PE1 -NX_Q8NC44 57830 543 4.39 2 Cytosol;Membrane NA 3 PE1 -NX_Q8NC51 44965 408 8.66 1 Cytosol;Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 -NX_Q8NC54 29235 265 4.93 5 Golgi apparatus;Membrane NA 1 PE1 -NX_Q8NC56 56975 503 9.16 6 Nucleus inner membrane;Nucleus membrane Cataract 46, juvenile-onset 2 PE1 -NX_Q8NC60 78458 698 8.87 4 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_Q8NC67 59393 525 6.38 16 Golgi apparatus;Membrane NA 1 PE1 -NX_Q8NC69 27610 237 5.61 3 Mitochondrion;M line;Nucleolus NA 0 PE1 -NX_Q8NC74 71432 664 6.08 20 NA NA 0 PE1 -NX_Q8NC96 29737 275 6.33 12 Cytoplasmic vesicle;Cytosol;Clathrin-coated vesicle membrane;Cell membrane Epileptic encephalopathy, early infantile, 21 0 PE1 -NX_Q8NCA5 55401 519 9.15 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q8NCA9 34237 323 7.95 19 Nucleus NA 0 PE1 -NX_Q8NCB2 54354 501 5.38 3 Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;Cytoplasmic vesicle membrane;Cytoskeleton NA 0 PE1 -NX_Q8NCC3 46658 412 6.26 16 Secreted;Nucleoplasm;Lysosome;Cytoplasmic vesicle;Membrane;Mitochondrion NA 0 PE1 -NX_Q8NCC5 54486 494 5.46 7 Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum NA 12 PE1 -NX_Q8NCD3 83539 748 9.4 2 Cytosol;Centromere;Nucleolus;Nucleus NA 0 PE1 -NX_Q8NCE0 53247 465 7.95 3 Nucleoplasm;Cytosol;Nucleolus;Nucleus Pontocerebellar hypoplasia 2B 0 PE1 -NX_Q8NCE2 72203 650 5.85 3 Cytoplasm Myopathy, centronuclear, 1 0 PE1 -NX_Q8NCF0 49585 446 8.54 16 Endosome;Golgi apparatus;Endoplasmic reticulum;Secreted NA 0 PE2 -NX_Q8NCF5 45817 419 6.19 16 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8NCG5 45134 386 9.11 16 Golgi apparatus membrane NA 1 PE1 -NX_Q8NCG7 73732 672 6.09 7 Cell membrane NA 4 PE1 -NX_Q8NCH0 42997 376 9.55 15 Cytoplasmic vesicle;Golgi apparatus membrane Ehlers-Danlos syndrome, musculocontractural type 1 1 PE1 -NX_Q8NCI6 74823 653 9.05 11 NA NA 0 PE1 -NX_Q8NCJ5 49694 442 5.78 12 Cytosol;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q8NCK3 50280 441 9.68 10 Nucleus NA 0 PE1 -NX_Q8NCK7 47791 471 8.67 17 Endoplasmic reticulum membrane;Cell membrane Diabetes mellitus, non-insulin-dependent 12 PE1 -NX_Q8NCL4 71159 622 8.47 12 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q8NCL8 27464 245 9.13 12 Nucleoplasm;Cytoskeleton;Membrane NA 4 PE2 -NX_Q8NCL9 55635 501 9.15 20 Mitochondrion;Membrane NA 1 PE1 -NX_Q8NCM2 111877 988 7.51 14 Cytoskeleton;Spindle;Membrane NA 6 PE1 -NX_Q8NCM8 492622 4307 6.13 11 Mitochondrion;Cytoplasm;Cell membrane;Cilium axoneme Short-rib thoracic dysplasia 3 with or without polydactyly 0 PE1 -NX_Q8NCN2 55534 500 6 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8NCN4 77194 708 9.28 11 Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_Q8NCN5 99364 879 5.93 16 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q8NCP5 63848 570 6.16 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8NCQ2 16070 148 11.82 19 NA NA 0 PE2 -NX_Q8NCQ3 11012 95 8.74 11 Membrane NA 1 PE5 -NX_Q8NCQ5 57258 510 8.88 18 NA NA 0 PE1 -NX_Q8NCQ7 40506 364 7.94 17 NA NA 0 PE1 -NX_Q8NCR0 56704 500 5.46 1 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus;Endoplasmic reticulum Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 1 PE1 -NX_Q8NCR3 36720 313 7.22 11 NA NA 0 PE1 -NX_Q8NCR6 30167 262 8.76 9 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q8NCR9 25321 226 9.3 10 Membrane NA 4 PE1 -NX_Q8NCS4 16885 154 9.26 1 Nucleolus;Nucleus;Membrane NA 3 PE1 -NX_Q8NCS7 81694 719 8.47 1 Cytosol;Membrane NA 10 PE1 -NX_Q8NCT1 45479 418 5.84 15 Cytoplasmic vesicle;Cell membrane;Early endosome NA 0 PE1 -NX_Q8NCT3 60525 520 10.03 7 Cytosol;Nucleus;Cell junction;Cell membrane NA 0 PE1 -NX_Q8NCU1 16081 143 6.11 14 NA NA 0 PE1 -NX_Q8NCU4 110568 936 9.61 3 Mitochondrion NA 0 PE1 -NX_Q8NCU7 39744 369 11.28 15 Nucleus NA 0 PE1 -NX_Q8NCU8 6527 56 11.27 2 Mitochondrion inner membrane NA 1 PE1 -NX_Q8NCV1 61755 583 9.11 16 NA NA 0 PE1 -NX_Q8NCW0 48849 462 7.44 16 Nucleolus;Membrane NA 1 PE1 -NX_Q8NCW5 31675 288 7.56 1 Cytosol;Nucleoplasm;Mitochondrion;Secreted Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 0 PE1 -NX_Q8NCW6 68919 608 8.47 7 Golgi apparatus membrane NA 1 PE1 -NX_Q8NCX0 128761 1101 6.58 2 Nucleoplasm NA 0 PE1 -NX_Q8NCY6 41150 345 5.37 11 Nucleus NA 0 PE1 -NX_Q8ND04 109684 991 7.74 17 Nucleoplasm NA 0 PE1 -NX_Q8ND07 61987 529 9.07 14 Microtubule organizing center;Nucleus;Cell membrane;Cilium basal body NA 0 PE1 -NX_Q8ND23 150230 1372 7.2 14 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8ND24 77667 703 6.51 11 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q8ND25 23783 227 6.18 16 Synaptic vesicle membrane;Golgi apparatus;Lysosome;Endosome;Cell membrane;Membrane NA 0 PE1 -NX_Q8ND30 98544 876 5.88 11 Mitochondrion NA 0 PE1 -NX_Q8ND56 50530 463 9.55 19 Cytosol;Stress granule;P-body NA 0 PE1 -NX_Q8ND61 101266 904 9.24 3 Cytoplasm;Membrane NA 1 PE1 -NX_Q8ND71 74890 665 8.62 7 Cytosol;Mitochondrion;Endoplasmic reticulum;Golgi apparatus NA 0 PE1 -NX_Q8ND76 39337 341 6.76 10 Nucleus;Cell membrane NA 0 PE1 -NX_Q8ND82 83096 737 9.29 X Nucleolus;Nucleus NA 0 PE1 -NX_Q8ND83 60595 568 7.57 13 Nucleoplasm;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q8ND90 39761 353 4.78 14 Cytosol;Focal adhesion;Nucleolus NA 0 PE1 -NX_Q8ND94 25262 238 6.07 11 Nucleoplasm;Nucleus;Membrane NA 1 PE1 -NX_Q8NDA2 541978 5059 5.57 9 Cytoplasmic vesicle;Cleavage furrow;Extracellular matrix NA 0 PE1 -NX_Q8NDA8 181249 1641 6.44 8 NA NA 0 PE1 -NX_Q8NDB2 89282 785 5.28 4 Nucleoplasm;Cytosol;Cell membrane Systemic lupus erythematosus 0 PE1 -NX_Q8NDB6 24412 213 9.75 X Nucleus envelope;Membrane NA 1 PE1 -NX_Q8NDC0 24269 245 5.3 14 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8NDC4 16236 146 7.88 10 Cytoplasm;Stereocilium;Nucleus;Filopodium tip NA 0 PE1 -NX_Q8NDD1 32610 293 9.88 1 Cytosol;Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_Q8NDF8 63267 572 9.07 16 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q8NDG6 155683 1382 6.62 14 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8NDH2 277951 2452 9.35 13 NA NA 0 PE1 -NX_Q8NDH3 55861 523 6.41 20 Nucleoplasm NA 0 PE1 -NX_Q8NDH6 54407 482 5.18 2 Mitochondrion NA 0 PE1 -NX_Q8NDI1 140017 1231 5.24 2 Cytosol;Cytoplasm;Endosome;Cell membrane;Membrane Prostate cancer, hereditary, 12 0 PE1 -NX_Q8NDL9 97534 886 9.34 2 Cytosol;Cytoplasm;Spindle;Nucleus;Cytoskeleton;Midbody Retinitis pigmentosa 75 0 PE1 -NX_Q8NDM7 191984 1665 5.71 10 Cytoplasm;Flagellum axoneme;Flagellum Spermatogenic failure 19 0 PE1 -NX_Q8NDN9 58252 531 6.02 13 Nucleoplasm;Cytoplasm;Nucleus Retinal dystrophy with or without extraocular anomalies 0 PE1 -NX_Q8NDP4 58395 499 9.4 19 Nucleus NA 0 PE1 -NX_Q8NDQ6 77094 660 9.58 19 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8NDT2 97205 890 9.86 3 Nucleoplasm;Nucleus speckle;Nucleus envelope NA 0 PE1 -NX_Q8NDV1 35395 305 9.23 1 Nucleoplasm;Golgi apparatus membrane NA 1 PE1 -NX_Q8NDV2 37604 337 9.82 10 Cell membrane NA 7 PE1 -NX_Q8NDV3 143908 1235 7.69 22 Cytosol;Centromere;Nucleus;Chromosome;Nucleoplasm NA 0 PE1 -NX_Q8NDV7 210297 1962 6.55 16 Nucleoplasm;Cytoplasmic vesicle;P-body;Golgi apparatus NA 0 PE1 -NX_Q8NDW4 67087 579 8.59 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8NDW8 150944 1320 6.85 3 Nucleoplasm NA 0 PE1 -NX_Q8NDX1 116249 1056 5.31 2 Cell membrane;Ruffle membrane NA 0 PE1 -NX_Q8NDX2 64991 589 5.95 12 Synaptosome;Synaptic vesicle membrane;Membrane Deafness, autosomal dominant, 25 12 PE1 -NX_Q8NDX5 106162 983 6.15 3 Nucleus NA 0 PE1 -NX_Q8NDX6 21857 193 9.38 12 Nucleus NA 0 PE1 -NX_Q8NDX9 22572 201 6.17 6 Secreted NA 0 PE1 -NX_Q8NDY3 40105 354 5.58 13 Nucleoplasm NA 0 PE1 -NX_Q8NDY4 15384 140 8.83 1 NA NA 0 PE2 -NX_Q8NDY6 23665 225 9.37 20 Nucleus NA 0 PE1 -NX_Q8NDY8 22122 209 5.53 1 Membrane NA 1 PE2 -NX_Q8NDZ0 87919 799 5.23 X NA NA 0 PE1 -NX_Q8NDZ2 96838 872 6.1 5 Nucleolus;Nucleus NA 0 PE1 -NX_Q8NDZ4 49482 430 8.84 3 COPI-coated vesicle;Golgi apparatus;Secreted NA 0 PE1 -NX_Q8NDZ6 55482 487 8.59 5 Membrane NA 8 PE1 -NX_Q8NDZ9 22305 215 12.41 10 NA NA 0 PE5 -NX_Q8NE00 55679 496 6.79 17 Nucleoplasm;Golgi apparatus;Membrane NA 11 PE1 -NX_Q8NE01 76119 707 5.76 2 Cytosol;Cell membrane NA 4 PE1 -NX_Q8NE09 147163 1264 8.08 8 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8NE18 81039 718 8.95 4 Cytoplasmic vesicle NA 0 PE1 -NX_Q8NE22 34095 299 8.93 5 Nucleoplasm NA 0 PE1 -NX_Q8NE28 75677 680 5.17 9 NA NA 0 PE1 -NX_Q8NE31 65727 585 5.5 10 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8NE35 76014 698 6.56 10 Postsynaptic density;Cytoplasm;Synapse;Nucleus;Dendrite NA 0 PE1 -NX_Q8NE62 65358 594 8.57 3 Mitochondrion inner membrane NA 0 PE1 -NX_Q8NE63 69425 616 6.18 19 Cytoplasm NA 0 PE1 -NX_Q8NE65 15884 137 4.99 19 Nucleus NA 0 PE1 -NX_Q8NE71 95926 845 6.4 6 Nucleoplasm;Cytoplasm;Cytosol;Nucleus envelope NA 0 PE1 -NX_Q8NE79 41451 360 8.02 6 Cell membrane;Sarcolemma;Membrane;Caveola;Cell junction;Tight junction;Lateral cell membrane Limb-girdle muscular dystrophy 2X 3 PE1 -NX_Q8NE86 39867 351 8.83 10 Mitochondrion;Mitochondrion inner membrane NA 2 PE1 -NX_Q8NEA4 22105 188 8.64 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q8NEA5 24151 215 9.06 19 Golgi apparatus;Membrane NA 1 PE1 -NX_Q8NEA6 83636 775 8.34 9 Nucleoplasm;Nucleus Diabetes mellitus, neonatal, with congenital hypothyroidism 0 PE1 -NX_Q8NEA9 60299 526 8.48 5 Nucleus matrix NA 0 PE1 -NX_Q8NEB5 29484 264 8.81 8 Cytoplasmic vesicle;Membrane NA 5 PE1 -NX_Q8NEB7 61359 543 5.09 12 Cytoplasmic vesicle;Nucleoplasm;Acrosome;Secreted NA 0 PE1 -NX_Q8NEB9 101549 887 6.37 18 Late endosome;Midbody;Autophagosome NA 0 PE1 -NX_Q8NEC5 90091 780 7.22 11 Flagellum membrane Spermatogenic failure 7 6 PE1 -NX_Q8NEC7 71079 633 8.04 4 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8NEE0 9662 82 10.17 2 NA NA 0 PE5 -NX_Q8NEE6 83924 735 9.03 7 Flagellum axoneme NA 0 PE2 -NX_Q8NEE8 98309 873 9.15 9 NA NA 0 PE1 -NX_Q8NEF3 53565 446 9.48 5 Nucleoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_Q8NEF9 48634 429 9.59 5 Cytoplasmic vesicle;Perinuclear region;Nucleolus;Nucleus NA 0 PE1 -NX_Q8NEG0 27472 241 6.53 12 NA NA 0 PE1 -NX_Q8NEG2 32846 295 7.78 7 NA NA 0 PE1 -NX_Q8NEG4 55486 500 8.38 22 Mitochondrion;Nucleus NA 0 PE1 -NX_Q8NEG5 72732 633 8.95 2 NA NA 0 PE1 -NX_Q8NEG7 66464 585 9.11 22 Cytoplasm;Recycling endosome;Cell membrane NA 0 PE1 -NX_Q8NEH6 60571 495 6.73 15 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q8NEJ0 21066 188 7.04 22 Nucleoplasm;Cytoplasm;Nucleus;Mitochondrion inner membrane NA 0 PE1 -NX_Q8NEJ9 35894 315 9.57 14 Nucleolus;Cytoplasm;Axon;Dendrite;Nucleus;Filopodium;Mitochondrion;Centromere NA 0 PE1 -NX_Q8NEK5 62728 533 8.37 19 Nucleus NA 0 PE1 -NX_Q8NEK8 44500 389 6.17 X NA NA 0 PE1 -NX_Q8NEL0 37886 328 8.61 3 NA NA 0 PE1 -NX_Q8NEL9 100435 900 5.42 14 Cytoplasm Spastic paraplegia 28, autosomal recessive 0 PE1 -NX_Q8NEM0 92849 835 8.56 8 Nucleoplasm;Nucleus;Centrosome Microcephaly 1, primary, autosomal recessive 0 PE1 -NX_Q8NEM1 61798 530 9.19 7 Nucleus NA 0 PE1 -NX_Q8NEM2 75690 672 4.66 16 Spindle;Cytoskeleton;Nucleus;Midbody NA 0 PE1 -NX_Q8NEM7 85789 779 8.77 13 Nucleolus;Nucleus NA 0 PE1 -NX_Q8NEM8 116011 1001 8.98 7 Cytosol;Mitochondrion;Nucleus speckle NA 0 PE2 -NX_Q8NEN0 96867 867 8.53 6 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8NEN9 128563 1154 5.78 10 Endoplasmic reticulum membrane;Nucleolus;Cell membrane NA 1 PE1 -NX_Q8NEP3 80026 725 4.57 16 Nucleus speckle;Cytosol;Cytoplasm;Cell membrane;Spindle pole;Cilium Ciliary dyskinesia, primary, 13 0 PE1 -NX_Q8NEP4 63111 570 9.29 17 NA NA 0 PE1 -NX_Q8NEP7 37754 349 8.71 1 Nucleoplasm NA 0 PE1 -NX_Q8NEP9 73084 628 9.26 19 Nucleus NA 0 PE1 -NX_Q8NEQ5 16886 155 9.05 1 Membrane NA 1 PE1 -NX_Q8NEQ6 17657 169 9.23 1 Nucleoplasm NA 0 PE1 -NX_Q8NER1 94956 839 6.9 17 Postsynaptic cell membrane;Dendritic spine membrane;Cell membrane;Endoplasmic reticulum NA 6 PE1 -NX_Q8NER5 54871 493 8.22 2 Membrane NA 1 PE1 -NX_Q8NES3 41773 379 9.35 7 Golgi apparatus membrane Spondylocostal dysostosis 3, autosomal recessive 1 PE1 -NX_Q8NES8 8058 71 8.26 20 Secreted NA 0 PE3 -NX_Q8NET1 8326 73 8.65 11 Secreted NA 0 PE2 -NX_Q8NET4 144280 1388 5.81 X NA NA 0 PE1 -NX_Q8NET5 29686 270 9.04 22 Cell membrane NA 1 PE1 -NX_Q8NET6 38920 341 10.56 3 Golgi apparatus membrane NA 1 PE1 -NX_Q8NET8 90636 790 6.17 17 Cytosol;Centrosome;Cell membrane;Membrane Olmsted syndrome;Palmoplantar keratoderma, non-epidermolytic, focal 2 6 PE1 -NX_Q8NEU8 74493 664 4.87 12 Early endosome membrane;Nucleus NA 0 PE1 -NX_Q8NEV1 45220 391 8.54 11 NA NA 0 PE1 -NX_Q8NEV4 186208 1616 9.04 10 Cytosol;Cytoplasm;Stereocilium;Filopodium tip;Cell membrane;Cytoskeleton Deafness, autosomal recessive, 30 0 PE1 -NX_Q8NEV8 222519 1989 7.98 11 NA Epidermolysis bullosa, non-specific, autosomal recessive 0 PE1 -NX_Q8NEV9 27493 243 6.18 16 Secreted NA 0 PE1 -NX_Q8NEW0 41626 376 6.43 1 trans-Golgi network membrane;Golgi apparatus NA 6 PE1 -NX_Q8NEW7 17241 156 9.43 3 Cytoplasmic vesicle;Cytosol;Membrane Deafness, autosomal recessive, 6 1 PE1 -NX_Q8NEX5 10506 89 7.5 20 Secreted NA 0 PE1 -NX_Q8NEX6 10340 87 8.75 20 Secreted NA 0 PE2 -NX_Q8NEX9 35263 313 9.26 12 Cytosol;Cytoplasm;Nucleolus Ichthyosis, congenital, autosomal recessive 13 0 PE1 -NX_Q8NEY1 202472 1877 8.2 1 Cytoskeleton NA 0 PE1 -NX_Q8NEY3 34751 305 9.86 4 Nucleus NA 0 PE1 -NX_Q8NEY4 48759 427 5.82 2 Mitochondrion NA 0 PE1 -NX_Q8NEY8 52737 458 9.15 12 Nucleoplasm;Cytoplasm;Nucleus;Chromosome;Golgi apparatus NA 0 PE1 -NX_Q8NEZ2 44314 397 5.37 8 Cytoplasmic vesicle;Cytosol;Late endosome membrane;Nucleus;Centrosome Spastic paraplegia 53, autosomal recessive 0 PE1 -NX_Q8NEZ3 151581 1342 5.94 4 Nucleoplasm;Photoreceptor outer segment;Nucleus;Cilium;Cilium basal body Short-rib thoracic dysplasia 5 with or without polydactyly;Cranioectodermal dysplasia 4;Senior-Loken syndrome 8;Nephronophthisis 13 0 PE1 -NX_Q8NEZ4 541370 4911 6.07 7 Nucleoplasm;Nucleus Kleefstra syndrome 2 0 PE1 -NX_Q8NEZ5 44508 403 6.61 15 Z line NA 0 PE1 -NX_Q8NF37 59151 534 5.77 5 Endoplasmic reticulum membrane;Lipid droplet;Golgi apparatus membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q8NF50 238529 2099 6.43 9 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Lamellipodium membrane;Mitochondrion;Centrosome Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;Mental retardation, autosomal dominant 2 0 PE1 -NX_Q8NF64 96537 920 6.68 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8NF67 31171 263 5.19 1 NA NA 0 PE5 -NX_Q8NF86 29787 280 10.03 16 Secreted NA 0 PE1 -NX_Q8NF91 1011086 8797 5.37 6 Nucleus membrane;Golgi apparatus;Nucleus outer membrane;Nucleoplasm;Nucleus envelope;Nucleus;Sarcomere;Cytoskeleton Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive, 8 1 PE1 -NX_Q8NF99 61139 534 6.93 18 Nucleolus;Cytosol;Cytoplasm;Cell membrane;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q8NFA0 181656 1604 6.01 17 Cytosol;Golgi apparatus;Membrane NA 0 PE1 -NX_Q8NFA2 41253 376 9.9 16 Cell membrane NA 0 PE1 -NX_Q8NFB2 40631 350 6.79 X Dendrite;Membrane NA 7 PE1 -NX_Q8NFC6 330466 3051 5 4 Nucleoplasm;Cytoplasm;Chromosome NA 0 PE1 -NX_Q8NFD2 84632 765 6.6 11 NA NA 0 PE2 -NX_Q8NFD4 16997 153 11.11 9 NA NA 0 PE2 -NX_Q8NFD5 236123 2236 6.26 6 Nucleoplasm;Nucleolus;Nucleus Coffin-Siris syndrome 1 0 PE1 -NX_Q8NFF2 69042 622 7.48 14 Cytoplasm;Cell membrane Amelogenesis imperfecta, hypomaturation type, 2A5 10 PE1 -NX_Q8NFF5 65266 587 6.49 1 Cytosol;Mitochondrion matrix;Cell membrane;Cytoplasm Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 0 PE1 -NX_Q8NFG4 64473 579 5.83 17 Cytosol;Cytoplasm;Nucleus;Cell membrane Birt-Hogg-Dube syndrome;Renal cell carcinoma;Primary spontaneous pneumothorax 0 PE1 -NX_Q8NFH3 42151 380 5.31 6 Kinetochore;Nuclear pore complex NA 0 PE1 -NX_Q8NFH4 36708 326 5.55 12 Kinetochore;Nucleoplasm;Nuclear pore complex NA 0 PE1 -NX_Q8NFH5 34774 326 9.15 2 Nucleoplasm;Nuclear pore complex;Nucleus membrane;Cell membrane NA 0 PE1 -NX_Q8NFH8 71534 660 7.56 X Cytoplasm NA 0 PE1 -NX_Q8NFI3 83987 743 6.34 17 Cytosol;Centrosome NA 0 PE1 -NX_Q8NFI4 41378 369 4.96 11 Cytoplasm NA 0 PE5 -NX_Q8NFJ5 40251 357 8.39 12 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Cell membrane NA 7 PE1 -NX_Q8NFJ6 43996 384 9.04 20 Cell membrane Hypogonadotropic hypogonadism 3 with or without anosmia 7 PE1 -NX_Q8NFJ8 36997 381 7.04 8 Nucleus NA 0 PE1 -NX_Q8NFJ9 65083 593 8.02 11 Cytoplasm;Centriolar satellite;Midbody;Cilium membrane Bardet-Biedl syndrome 1 0 PE1 -NX_Q8NFK1 31299 279 9.35 7 Gap junction;Cell membrane NA 4 PE1 -NX_Q8NFL0 45987 401 9.2 2 Golgi apparatus membrane NA 1 PE1 -NX_Q8NFM4 119794 1077 7.31 14 Cytoplasm;Cell membrane NA 12 PE1 -NX_Q8NFM7 82411 739 6.78 3 Nucleoplasm;Cytoplasm;Golgi apparatus membrane;Cell membrane;Golgi apparatus Hypogonadotropic hypogonadism 18 with or without anosmia 1 PE1 -NX_Q8NFN8 89097 814 7.74 3 Cell membrane NA 7 PE2 -NX_Q8NFP0 16023 134 9.17 6 Peroxisome NA 0 PE2 -NX_Q8NFP4 105790 955 8.65 6 Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q8NFP7 18500 164 5.52 X Cytoplasm NA 0 PE1 -NX_Q8NFP9 327822 2946 5.78 13 Nucleolus;Golgi apparatus;Cytosol;Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_Q8NFQ5 49717 453 8.97 20 Secreted NA 0 PE1 -NX_Q8NFQ6 56469 507 5.56 22 Secreted NA 0 PE2 -NX_Q8NFQ8 51263 470 4.84 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus membrane NA 1 PE1 -NX_Q8NFR3 9198 76 7.72 3 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q8NFR7 71076 591 9 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q8NFR9 74810 667 9.43 3 Cytoplasm;Cell membrane;Secreted NA 1 PE1 -NX_Q8NFT2 56056 490 9.28 7 Endosome membrane;Cytoplasmic vesicle;Cell membrane NA 6 PE1 -NX_Q8NFT6 67243 615 8.72 17 Nucleus NA 0 PE1 -NX_Q8NFT8 78475 737 5.03 2 Cell membrane NA 1 PE1 -NX_Q8NFU0 53497 473 5.81 1 Cell membrane NA 4 PE1 -NX_Q8NFU1 57139 509 5.11 19 Cell membrane NA 4 PE1 -NX_Q8NFU3 12530 115 5.85 1 Cytosol;Perinuclear region NA 0 PE1 -NX_Q8NFU4 9700 85 9.3 4 Secreted NA 0 PE1 -NX_Q8NFU5 47222 416 7.27 10 Nucleus NA 0 PE1 -NX_Q8NFU7 235309 2136 8.53 10 Nucleus;Nucleus membrane NA 0 PE1 -NX_Q8NFV4 34690 315 9.5 7 Mitochondrion NA 0 PE1 -NX_Q8NFV5 40668 336 9.52 7 NA NA 0 PE2 -NX_Q8NFW1 161145 1626 6.88 8 Cytoplasmic vesicle;Cytoplasm;Endoplasmic reticulum;Extracellular matrix NA 0 PE1 -NX_Q8NFW5 41198 382 8.76 1 Nucleus NA 0 PE1 -NX_Q8NFW8 48379 434 8.16 12 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q8NFW9 95706 859 5.44 3 Nucleolus;Golgi apparatus;Cytoplasm;Perinuclear region;Secretory vesicle;Nucleus NA 0 PE1 -NX_Q8NFX7 23554 210 9.19 14 Cytoplasm;Membrane NA 0 PE1 -NX_Q8NFY4 119872 1073 8.77 15 Cytoplasm;Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q8NFY9 68823 601 5.88 3 Spindle;Golgi apparatus NA 0 PE1 -NX_Q8NFZ0 117686 1043 8.58 10 Nucleus;Chromosome NA 0 PE1 -NX_Q8NFZ3 92021 816 5.77 Y Postsynaptic density;Cell membrane NA 1 PE2 -NX_Q8NFZ4 90820 835 5.78 17 Mitochondrion;Postsynaptic cell membrane;Cell membrane;Presynaptic cell membrane NA 1 PE1 -NX_Q8NFZ5 48700 429 6.03 4 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8NFZ6 44476 395 9.52 19 Cell membrane NA 8 PE2 -NX_Q8NFZ8 42785 388 5.92 19 Nucleus;Nucleus membrane;Membrane NA 1 PE1 -NX_Q8NG04 60059 563 8.6 12 Membrane NA 5 PE2 -NX_Q8NG06 54766 486 5.87 1 NA NA 0 PE1 -NX_Q8NG08 123252 1087 5.59 12 Cytoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q8NG11 30691 270 6.41 10 Cytoplasmic vesicle;Cell membrane NA 4 PE1 -NX_Q8NG27 71002 643 5.05 X Nucleolus;Nucleus NA 0 PE1 -NX_Q8NG31 265391 2342 5.3 15 Nucleoplasm;Kinetochore;Nucleus Microcephaly 4, primary, autosomal recessive 0 PE1 -NX_Q8NG35 8923 78 8.71 8 Secreted NA 0 PE2 -NX_Q8NG41 13097 125 9.97 17 Secreted NA 0 PE1 -NX_Q8NG48 85857 757 6.07 15 Nucleoplasm Mental retardation, autosomal recessive 27 0 PE1 -NX_Q8NG50 31970 284 5.75 17 Cajal body;Nucleolus;PML body;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8NG57 59744 546 9.86 18 Nucleus NA 0 PE1 -NX_Q8NG66 74192 645 5 3 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q8NG68 43212 377 6.28 2 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q8NG75 36885 326 7.57 11 Cell membrane NA 7 PE2 -NX_Q8NG76 35876 320 8.91 1 Cell membrane NA 7 PE2 -NX_Q8NG77 35946 320 8.96 1 Cell membrane NA 7 PE3 -NX_Q8NG78 38798 346 8.65 11 Cell membrane NA 7 PE2 -NX_Q8NG80 35648 312 8.87 1 Cell membrane NA 7 PE3 -NX_Q8NG81 34902 312 7.52 1 Cell membrane NA 7 PE2 -NX_Q8NG83 34827 312 8.45 1 Cell membrane NA 7 PE2 -NX_Q8NG84 37763 335 9.23 1 Cell membrane NA 7 PE2 -NX_Q8NG85 35282 312 8.96 1 Cell membrane NA 7 PE2 -NX_Q8NG92 34570 308 9.25 X Cell membrane NA 7 PE2 -NX_Q8NG94 36578 326 8.35 22 Cell membrane NA 7 PE3 -NX_Q8NG95 34439 312 8.53 19 Cell membrane NA 7 PE3 -NX_Q8NG97 34444 314 7.57 19 Cell membrane NA 7 PE2 -NX_Q8NG98 34448 312 7.05 19 Cell membrane NA 7 PE2 -NX_Q8NG99 35931 324 8.51 19 Cell membrane NA 7 PE3 -NX_Q8NGA0 34803 311 8.77 19 Cell membrane NA 7 PE3 -NX_Q8NGA1 34840 313 9.18 19 Cell membrane NA 7 PE2 -NX_Q8NGA2 34430 310 6.42 19 Cell membrane NA 7 PE5 -NX_Q8NGA4 30291 272 9.49 19 Cell membrane NA 5 PE5 -NX_Q8NGA5 35765 316 8.92 19 Cell membrane NA 7 PE3 -NX_Q8NGA6 34900 315 8.92 19 Cell membrane NA 7 PE2 -NX_Q8NGA8 34212 305 8.69 19 Cell membrane NA 7 PE2 -NX_Q8NGB2 36862 326 6.57 11 Cell membrane NA 7 PE3 -NX_Q8NGB4 34800 309 9 11 Cell membrane NA 7 PE3 -NX_Q8NGB6 35416 313 7.48 15 Cell membrane NA 7 PE2 -NX_Q8NGB8 35369 312 8.84 15 Cell membrane NA 7 PE2 -NX_Q8NGB9 35355 312 8.88 15 Cell membrane NA 7 PE2 -NX_Q8NGC0 40658 362 9.24 14 Cell membrane NA 7 PE2 -NX_Q8NGC1 38871 345 9.47 14 Cell membrane NA 7 PE3 -NX_Q8NGC2 35466 313 8.26 14 Cell membrane NA 7 PE3 -NX_Q8NGC3 34472 310 9.04 14 Cell membrane NA 7 PE2 -NX_Q8NGC4 35055 313 9.17 14 Cell membrane NA 7 PE3 -NX_Q8NGC5 38693 347 8.84 14 Cell membrane NA 7 PE3 -NX_Q8NGC6 35312 315 8.97 14 Cell membrane NA 7 PE3 -NX_Q8NGC7 36788 330 8.59 14 Cell membrane NA 7 PE3 -NX_Q8NGC8 35499 314 8.71 14 Cell membrane NA 7 PE3 -NX_Q8NGC9 36886 324 9.05 14 Cell membrane NA 7 PE2 -NX_Q8NGD0 35488 313 8.41 14 Cell membrane NA 7 PE2 -NX_Q8NGD1 34721 307 9.06 14 Cell membrane NA 7 PE2 -NX_Q8NGD2 35357 314 7.59 14 Cell membrane NA 7 PE2 -NX_Q8NGD3 36258 323 8.77 14 Cell membrane NA 7 PE3 -NX_Q8NGD4 35201 311 6.43 14 Cell membrane NA 7 PE2 -NX_Q8NGD5 35053 310 8.46 14 Cell membrane NA 7 PE3 -NX_Q8NGE0 35698 317 8.46 12 Cell membrane NA 7 PE2 -NX_Q8NGE1 35010 309 8.91 12 Cell membrane NA 7 PE2 -NX_Q8NGE2 34902 309 8.66 12 Cell membrane NA 7 PE3 -NX_Q8NGE3 34741 313 9.77 12 Cell membrane NA 7 PE2 -NX_Q8NGE5 35695 316 8.78 12 Cell membrane NA 7 PE3 -NX_Q8NGE7 37746 335 8.68 12 Cell membrane NA 6 PE2 -NX_Q8NGE8 35666 314 9.08 11 Cell membrane NA 7 PE3 -NX_Q8NGE9 35363 314 8.83 11 Cell membrane NA 7 PE2 -NX_Q8NGF0 36963 335 8.61 11 Cell membrane NA 7 PE3 -NX_Q8NGF1 34943 315 8.49 11 Cell membrane NA 7 PE3 -NX_Q8NGF3 35839 324 8.99 11 Cell membrane NA 7 PE2 -NX_Q8NGF4 35508 316 8.9 11 Cell membrane NA 7 PE2 -NX_Q8NGF6 33376 305 6.83 11 Cell membrane NA 7 PE2 -NX_Q8NGF7 35091 314 7.56 11 Cell membrane NA 7 PE3 -NX_Q8NGF8 34456 309 7.54 11 Cell membrane NA 7 PE3 -NX_Q8NGF9 34289 303 8.75 11 Cell membrane NA 7 PE2 -NX_Q8NGG0 35481 315 8.62 11 Cell membrane NA 7 PE3 -NX_Q8NGG1 35160 315 8.51 11 Membrane NA 7 PE3 -NX_Q8NGG2 40696 359 8.91 11 Cell membrane NA 7 PE2 -NX_Q8NGG3 38346 340 8.3 11 Cell membrane NA 7 PE3 -NX_Q8NGG4 35228 311 9.03 11 Cell membrane NA 7 PE2 -NX_Q8NGG5 36581 319 9.18 11 Cell membrane NA 7 PE2 -NX_Q8NGG6 34372 310 8.51 11 Cell membrane NA 7 PE2 -NX_Q8NGG7 36388 326 8.69 11 Cell membrane NA 7 PE2 -NX_Q8NGG8 35305 313 9.07 11 Cell membrane NA 7 PE3 -NX_Q8NGH3 37489 330 9.21 11 Cell membrane NA 7 PE2 -NX_Q8NGH5 35823 318 9.03 11 Cell membrane NA 7 PE2 -NX_Q8NGH6 35227 319 8.98 11 Cell membrane NA 7 PE5 -NX_Q8NGH7 36221 329 8.57 11 Cell membrane NA 7 PE2 -NX_Q8NGH8 35116 313 9.03 11 Cell membrane NA 7 PE2 -NX_Q8NGH9 35480 312 8.84 11 Cell membrane NA 7 PE3 -NX_Q8NGI0 35940 321 8.35 11 Cell membrane NA 7 PE2 -NX_Q8NGI1 35955 322 8.99 11 Cell membrane NA 7 PE5 -NX_Q8NGI2 36080 321 8.48 11 Cell membrane NA 7 PE2 -NX_Q8NGI3 36050 324 8.5 11 Cell membrane NA 7 PE2 -NX_Q8NGI4 34969 311 9.06 11 Cell membrane NA 7 PE3 -NX_Q8NGI6 35300 311 9.07 11 Cell membrane NA 7 PE2 -NX_Q8NGI7 34746 309 8.69 11 Cell membrane NA 7 PE3 -NX_Q8NGI8 34789 311 8.83 11 Cell membrane NA 7 PE2 -NX_Q8NGI9 36016 324 8.46 11 Cell membrane NA 7 PE2 -NX_Q8NGJ0 35152 315 8.53 11 Cell membrane NA 7 PE2 -NX_Q8NGJ1 35954 314 8.75 11 Cell membrane NA 7 PE2 -NX_Q8NGJ2 35592 320 8.18 11 Cell membrane NA 7 PE2 -NX_Q8NGJ3 34714 308 8.64 11 Cell membrane NA 7 PE3 -NX_Q8NGJ4 36630 325 8.69 11 Cell membrane NA 7 PE3 -NX_Q8NGJ5 35369 315 7.65 11 Cell membrane NA 7 PE3 -NX_Q8NGJ6 35256 313 9.15 11 Cell membrane NA 7 PE2 -NX_Q8NGJ7 35078 313 9.06 11 Cell membrane NA 7 PE3 -NX_Q8NGJ8 35313 323 9.13 11 Cell membrane NA 7 PE2 -NX_Q8NGJ9 36998 327 9.45 11 Cell membrane NA 7 PE3 -NX_Q8NGK0 35012 314 8.93 11 Cell membrane NA 7 PE2 -NX_Q8NGK1 36290 321 8.97 11 Cell membrane NA 7 PE2 -NX_Q8NGK2 35584 314 8.82 11 Cell membrane NA 7 PE3 -NX_Q8NGK3 34926 314 8.8 11 Cell membrane NA 7 PE2 -NX_Q8NGK4 35231 314 8.97 11 Cell membrane NA 7 PE2 -NX_Q8NGK5 35037 317 8.99 11 Cell membrane NA 7 PE3 -NX_Q8NGK6 35386 324 7.16 11 Cell membrane NA 7 PE3 -NX_Q8NGK9 37278 328 8.62 11 Cell membrane NA 7 PE3 -NX_Q8NGL0 34682 311 8.46 11 Cell membrane NA 7 PE2 -NX_Q8NGL1 35348 313 8.68 11 Cell membrane NA 7 PE2 -NX_Q8NGL2 34559 311 8.29 11 Cell membrane NA 7 PE2 -NX_Q8NGL3 35823 314 9.01 11 Cell membrane NA 7 PE3 -NX_Q8NGL4 35447 314 8.19 11 Cell membrane NA 7 PE3 -NX_Q8NGL6 38828 344 9.01 11 Cell membrane NA 7 PE3 -NX_Q8NGL7 35795 312 8.76 11 Cell membrane NA 7 PE3 -NX_Q8NGL9 34991 310 8.8 11 Cell membrane NA 7 PE3 -NX_Q8NGM1 35667 316 8.02 11 Cell membrane NA 7 PE3 -NX_Q8NGM8 35328 313 8.54 11 Cell membrane NA 7 PE2 -NX_Q8NGM9 35019 314 9.04 11 Cell membrane NA 7 PE2 -NX_Q8NGN0 35771 318 8.95 11 Cell membrane NA 7 PE2 -NX_Q8NGN1 36348 323 9.39 11 Cell membrane NA 7 PE2 -NX_Q8NGN2 36501 331 8.47 11 Cell membrane NA 7 PE2 -NX_Q8NGN3 34569 311 8.99 11 Cell membrane NA 7 PE3 -NX_Q8NGN4 34574 311 8.57 11 Cell membrane NA 7 PE3 -NX_Q8NGN5 34519 311 9.14 11 Cell membrane NA 7 PE2 -NX_Q8NGN6 34517 311 8.85 11 Cell membrane NA 7 PE3 -NX_Q8NGN7 33107 298 8.33 11 Cell membrane NA 7 PE5 -NX_Q8NGN8 33593 299 8.83 11 Cell membrane NA 7 PE5 -NX_Q8NGP0 34582 309 8.72 11 Cell membrane NA 7 PE2 -NX_Q8NGP2 35415 316 8.61 11 Cell membrane NA 7 PE2 -NX_Q8NGP3 35093 310 8.7 11 Cell membrane NA 7 PE3 -NX_Q8NGP4 35156 307 9.19 11 Cell membrane NA 7 PE2 -NX_Q8NGP6 35603 311 8.78 11 Cell membrane NA 7 PE2 -NX_Q8NGP8 35608 315 8.41 11 Cell membrane NA 7 PE3 -NX_Q8NGP9 34815 310 7.52 11 Cell membrane NA 7 PE3 -NX_Q8NGQ1 36344 327 8.25 11 Cell membrane NA 7 PE3 -NX_Q8NGQ2 35736 317 8.32 11 Cell membrane NA 7 PE2 -NX_Q8NGQ3 36579 325 7.63 11 Cell membrane NA 7 PE3 -NX_Q8NGQ4 35602 319 8.16 11 Cell membrane NA 7 PE2 -NX_Q8NGQ5 34757 310 5.72 11 Cell membrane NA 7 PE2 -NX_Q8NGQ6 34908 314 9 11 Cell membrane NA 7 PE3 -NX_Q8NGR1 36494 328 8.7 10 Cell membrane NA 7 PE2 -NX_Q8NGR2 39515 347 9.6 9 Cell membrane NA 7 PE3 -NX_Q8NGR3 34268 316 8.1 9 Cell membrane NA 7 PE2 -NX_Q8NGR4 34991 320 8.88 9 Cell membrane NA 7 PE2 -NX_Q8NGR5 35277 311 9.44 9 Cell membrane NA 7 PE3 -NX_Q8NGR6 35293 318 8.48 9 Cell membrane NA 7 PE3 -NX_Q8NGR8 35083 309 8.96 9 Cell membrane NA 7 PE2 -NX_Q8NGR9 36889 330 7.98 9 Cell membrane NA 7 PE2 -NX_Q8NGS0 34650 311 7.92 9 Cell membrane NA 7 PE3 -NX_Q8NGS1 34959 313 6.42 9 Cell membrane NA 7 PE2 -NX_Q8NGS2 35385 313 6.48 9 Cell membrane NA 7 PE2 -NX_Q8NGS3 35493 322 7.96 9 Cell membrane NA 7 PE2 -NX_Q8NGS4 35646 319 8.94 9 Cell membrane NA 7 PE2 -NX_Q8NGS5 35576 318 9.3 9 Cell membrane NA 7 PE3 -NX_Q8NGS6 38729 347 8.83 9 Cell membrane NA 7 PE2 -NX_Q8NGS7 35294 320 8.47 9 Cell membrane NA 7 PE3 -NX_Q8NGS8 35796 318 8.53 9 Cell membrane NA 7 PE2 -NX_Q8NGS9 35694 318 7.58 9 Cell membrane NA 7 PE2 -NX_Q8NGT0 35854 318 8.56 9 Cell membrane NA 7 PE3 -NX_Q8NGT1 38473 345 8.76 9 Cell membrane NA 7 PE2 -NX_Q8NGT2 34689 312 8.87 9 Cell membrane NA 7 PE2 -NX_Q8NGT5 35330 310 8.84 7 Cell membrane NA 6 PE2 -NX_Q8NGT7 35213 310 9.24 7 Cell membrane NA 7 PE2 -NX_Q8NGT9 34714 310 8.9 7 Cell membrane NA 7 PE3 -NX_Q8NGU1 29546 263 7.46 7 Cell membrane NA 6 PE5 -NX_Q8NGU2 35758 314 8.8 7 Cell membrane NA 7 PE2 -NX_Q8NGU4 34115 316 9.61 6 Cell membrane NA 7 PE5 -NX_Q8NGU9 46353 434 10.17 5 Cell membrane NA 7 PE2 -NX_Q8NGV0 34731 311 8.66 5 Cell membrane NA 7 PE2 -NX_Q8NGV5 39125 346 7.53 9 Cell membrane NA 7 PE2 -NX_Q8NGV6 36713 325 6.64 3 Cell membrane NA 7 PE2 -NX_Q8NGV7 35974 314 7.57 3 Cell membrane NA 7 PE3 -NX_Q8NGW1 37232 331 8.53 2 Cell membrane NA 7 PE3 -NX_Q8NGW6 38362 343 8.39 1 Cell membrane NA 7 PE2 -NX_Q8NGX0 36763 322 9.22 1 Cell membrane NA 7 PE2 -NX_Q8NGX1 35681 318 8.7 1 Cell membrane NA 7 PE2 -NX_Q8NGX2 36101 323 9.03 1 Cell membrane NA 7 PE3 -NX_Q8NGX3 35011 314 9.24 1 Cell membrane NA 7 PE3 -NX_Q8NGX5 35079 313 9.33 1 Cell membrane NA 7 PE2 -NX_Q8NGX6 37486 335 8.88 1 Cell membrane NA 7 PE3 -NX_Q8NGX8 36636 325 8.38 1 Cell membrane NA 7 PE3 -NX_Q8NGX9 35831 317 8.77 1 Cell membrane NA 7 PE3 -NX_Q8NGY0 36446 326 8.51 1 Cell membrane NA 7 PE3 -NX_Q8NGY1 34609 313 8.48 1 Cell membrane NA 7 PE3 -NX_Q8NGY2 36513 324 8.21 1 Cell membrane NA 7 PE2 -NX_Q8NGY3 37352 331 6.97 1 Cell membrane NA 7 PE3 -NX_Q8NGY5 34869 312 8.63 1 Cell membrane NA 7 PE2 -NX_Q8NGY6 35692 317 9.08 1 Cell membrane NA 7 PE3 -NX_Q8NGY7 31021 276 8.87 1 Cell membrane NA 7 PE5 -NX_Q8NGY9 35444 312 8.86 1 Cell membrane NA 7 PE2 -NX_Q8NGZ0 37063 328 9.12 1 Cell membrane NA 7 PE3 -NX_Q8NGZ2 34861 314 8.77 1 Cell membrane NA 7 PE3 -NX_Q8NGZ3 34672 307 8.52 1 Cell membrane NA 7 PE2 -NX_Q8NGZ4 34506 309 8.04 1 Cell membrane NA 7 PE2 -NX_Q8NGZ5 35559 317 9.44 1 Cell membrane NA 7 PE3 -NX_Q8NGZ6 33961 308 8.9 1 Cell membrane NA 7 PE2 -NX_Q8NGZ9 35403 312 8.81 1 Cell membrane NA 7 PE2 -NX_Q8NH00 39414 348 7.2 1 Cell membrane NA 7 PE3 -NX_Q8NH01 34797 316 8.18 1 Cell membrane NA 7 PE2 -NX_Q8NH02 35595 315 8.59 1 Cell membrane NA 7 PE3 -NX_Q8NH03 35598 318 8.42 1 Cell membrane NA 7 PE2 -NX_Q8NH04 35514 317 8.47 1 Cell membrane NA 7 PE3 -NX_Q8NH05 35491 313 7.83 14 Cell membrane NA 7 PE3 -NX_Q8NH06 36638 330 8.32 17 Cell membrane NA 7 PE2 -NX_Q8NH07 36531 326 8.35 14 Cell membrane NA 7 PE3 -NX_Q8NH08 35157 325 9.34 7 Cell membrane NA 7 PE3 -NX_Q8NH09 39645 359 8.84 12 Cell membrane NA 7 PE3 -NX_Q8NH10 35088 309 7.97 11 Cell membrane NA 7 PE3 -NX_Q8NH16 35495 312 8.94 1 Cell membrane NA 7 PE2 -NX_Q8NH18 34808 312 8.3 11 Cell membrane NA 7 PE3 -NX_Q8NH19 34105 301 9.07 11 Cell membrane NA 7 PE2 -NX_Q8NH21 34330 305 8.53 1 Cell membrane NA 7 PE3 -NX_Q8NH37 33726 302 6.68 11 Cell membrane NA 7 PE2 -NX_Q8NH40 36127 331 8.66 14 Cell membrane NA 7 PE3 -NX_Q8NH41 39088 348 9.1 14 Cell membrane NA 7 PE2 -NX_Q8NH42 34261 304 9.04 14 Cell membrane NA 7 PE3 -NX_Q8NH43 35264 312 9.03 14 Cell membrane NA 7 PE3 -NX_Q8NH48 35258 314 6.48 11 Cell membrane NA 7 PE3 -NX_Q8NH49 34222 305 8.74 11 Cell membrane NA 7 PE3 -NX_Q8NH50 35190 307 6.48 11 Cell membrane NA 7 PE3 -NX_Q8NH51 35463 312 8.02 11 Cell membrane NA 7 PE3 -NX_Q8NH53 35785 320 8.57 11 Cell membrane NA 7 PE3 -NX_Q8NH54 35611 315 8.82 11 Cell membrane NA 7 PE3 -NX_Q8NH55 36851 327 9.12 11 Cell membrane NA 7 PE3 -NX_Q8NH56 36212 324 8.88 11 Cell membrane NA 7 PE2 -NX_Q8NH57 34890 321 8.69 11 Cell membrane NA 7 PE5 -NX_Q8NH59 35747 317 8.69 11 Cell membrane NA 7 PE2 -NX_Q8NH60 35091 311 8.82 11 Cell membrane NA 7 PE3 -NX_Q8NH61 38518 342 9.06 11 Cell membrane NA 7 PE2 -NX_Q8NH63 33766 302 8.97 11 Cell membrane NA 7 PE3 -NX_Q8NH64 35132 312 9.12 11 Cell membrane NA 7 PE2 -NX_Q8NH67 38353 350 8.42 11 Cell membrane NA 7 PE2 -NX_Q8NH69 35167 310 6.57 11 Cell membrane NA 7 PE3 -NX_Q8NH70 36922 328 8.58 11 Cell membrane NA 7 PE3 -NX_Q8NH72 34558 309 8.45 11 Cell membrane NA 7 PE2 -NX_Q8NH73 35172 311 8.53 11 Cell membrane NA 7 PE3 -NX_Q8NH74 35318 314 8.37 11 Cell membrane NA 7 PE3 -NX_Q8NH76 35454 319 8.01 11 Cell membrane NA 7 PE2 -NX_Q8NH79 34727 312 9.1 11 Cell membrane NA 7 PE2 -NX_Q8NH80 34812 312 8.31 11 Cell membrane NA 7 PE5 -NX_Q8NH81 36823 332 7.53 11 Cell membrane NA 7 PE3 -NX_Q8NH83 34915 315 8.41 11 Cell membrane NA 7 PE3 -NX_Q8NH85 36708 324 8.61 11 Cell membrane NA 7 PE3 -NX_Q8NH87 34071 305 8.14 11 Cell membrane NA 7 PE3 -NX_Q8NH89 33542 298 7.55 11 Cell membrane NA 7 PE5 -NX_Q8NH90 34627 309 8.42 11 Cell membrane NA 7 PE2 -NX_Q8NH92 36707 325 8.79 11 Cell membrane NA 7 PE3 -NX_Q8NH93 36633 324 9.36 9 Cell membrane NA 7 PE2 -NX_Q8NH94 41046 360 9.01 9 Cell membrane NA 7 PE3 -NX_Q8NH95 16702 151 8.4 9 Cell membrane NA 3 PE5 -NX_Q8NHA4 36588 323 9.28 7 Cell membrane NA 7 PE2 -NX_Q8NHA6 35283 318 8.66 6 Cell membrane NA 7 PE5 -NX_Q8NHA8 36933 337 7.95 6 Cell membrane NA 7 PE3 -NX_Q8NHB1 34857 315 8.92 5 Cell membrane NA 7 PE3 -NX_Q8NHB7 35185 308 8.39 3 Cell membrane NA 7 PE2 -NX_Q8NHB8 35763 316 8.37 3 Cell membrane NA 7 PE2 -NX_Q8NHC4 34401 309 8.65 1 Cell membrane NA 7 PE2 -NX_Q8NHC5 34307 309 8.41 1 Cell membrane NA 7 PE3 -NX_Q8NHC6 34709 308 8.72 1 Cell membrane NA 7 PE5 -NX_Q8NHC7 34815 312 8.71 1 Cell membrane NA 7 PE3 -NX_Q8NHC8 34765 308 8.38 1 Cell membrane NA 7 PE3 -NX_Q8NHE4 9184 81 8.8 7 Membrane NA 2 PE2 -NX_Q8NHG7 8443 77 9.06 11 Golgi apparatus membrane;Smooth endoplasmic reticulum membrane;Cell membrane;Membrane NA 0 PE1 -NX_Q8NHG8 24115 242 6.64 7 Endosome membrane;Lysosome membrane;Presynaptic cell membrane NA 0 PE1 -NX_Q8NHH1 87612 800 9.08 9 Cilium basal body NA 0 PE1 -NX_Q8NHH9 66229 583 5.3 2 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 2 PE1 -NX_Q8NHJ6 49356 448 6.19 19 Cell membrane NA 1 PE1 -NX_Q8NHK3 40695 375 8.08 19 Cell membrane NA 1 PE3 -NX_Q8NHL6 70819 650 5.69 19 Cell membrane;Secreted NA 1 PE1 -NX_Q8NHM4 26537 247 5.64 7 Secreted NA 0 PE5 -NX_Q8NHM5 152615 1336 8.85 12 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q8NHP1 36970 331 6.39 1 NA NA 0 PE1 -NX_Q8NHP6 59746 518 5.7 X Endoplasmic reticulum;Cell membrane NA 1 PE1 -NX_Q8NHP7 58335 514 5.5 15 Cytoplasm NA 0 PE1 -NX_Q8NHP8 65472 589 6.34 12 Lysosome lumen NA 0 PE1 -NX_Q8NHQ1 69752 597 5.52 3 Cytosol;Nucleoplasm;Centrosome NA 0 PE1 -NX_Q8NHQ8 48327 419 6.21 12 Cytosol;Mitochondrion NA 0 PE1 -NX_Q8NHQ9 68547 600 9.32 12 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q8NHR7 25316 220 7.12 15 Nucleus;Nucleolus;Nucleus inner membrane;Centrosome;Telomere NA 0 PE1 -NX_Q8NHR9 14319 129 8.76 2 Cytoskeleton NA 0 PE1 -NX_Q8NHS0 25686 232 6 3 NA NA 0 PE1 -NX_Q8NHS1 17984 167 7.56 19 Nucleoplasm;Membrane NA 4 PE2 -NX_Q8NHS2 47305 421 6.56 8 Cytoplasm NA 0 PE1 -NX_Q8NHS3 57628 518 6.41 4 Nucleoplasm;Cytoplasmic vesicle;Endosome;Lysosome membrane Macular dystrophy with central cone involvement;Ceroid lipofuscinosis, neuronal, 7 12 PE1 -NX_Q8NHS4 67250 586 6.09 2 Nucleolus;Centrosome NA 0 PE1 -NX_Q8NHS9 41318 363 9.45 17 Chromosome NA 0 PE1 -NX_Q8NHU0 21331 189 9.79 X NA NA 0 PE1 -NX_Q8NHU2 141349 1237 5.76 20 Cilium axoneme NA 0 PE1 -NX_Q8NHU3 42280 365 9.01 4 Golgi apparatus membrane;Cell membrane NA 6 PE1 -NX_Q8NHU6 123586 1098 6.84 9 Cytosol;Nucleoplasm;Cytoplasm Cataract 36 0 PE1 -NX_Q8NHV1 34509 300 6.1 7 Golgi apparatus;Cytosol;Cytoplasm;Lipid droplet;Endoplasmic reticulum;Cytoplasmic vesicle NA 0 PE1 -NX_Q8NHV4 71966 660 8.15 12 Centrosome NA 0 PE1 -NX_Q8NHV5 18250 167 8.6 16 Cilium membrane;Cell membrane NA 4 PE2 -NX_Q8NHV9 20542 184 5.77 X Nucleus NA 0 PE1 -NX_Q8NHW3 36982 353 7.49 8 Nucleus Insulinomatosis and diabetes mellitus 0 PE1 -NX_Q8NHW4 10166 92 5.13 17 Secreted NA 0 PE1 -NX_Q8NHW5 34364 317 5.41 2 NA NA 0 PE5 -NX_Q8NHW6 9939 89 4.47 2 Secreted NA 0 PE2 -NX_Q8NHX4 20901 192 10.11 2 NA NA 0 PE1 -NX_Q8NHX9 85243 752 6.65 11 Lysosome membrane;Nucleolus NA 12 PE1 -NX_Q8NHY0 63258 566 8.79 17 Golgi apparatus membrane NA 1 PE1 -NX_Q8NHY2 80474 731 6.41 1 Cytoplasm;Nucleus speckle NA 0 PE1 -NX_Q8NHY3 96520 880 9.3 17 Cytoskeleton NA 0 PE1 -NX_Q8NHY5 30982 278 9.49 6 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8NHY6 98705 868 9.44 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8NHZ7 22994 208 11.53 19 NA NA 0 PE2 -NX_Q8NHZ8 9777 85 6.32 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8NI08 106162 942 5.43 6 Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8NI17 82954 732 6.75 5 Nucleoplasm;Cytoplasmic vesicle;Axon;Cell membrane;Presynaptic cell membrane Amyloidosis, primary localized cutaneous, 2 1 PE1 -NX_Q8NI22 16390 146 4.51 2 Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus;Endoplasmic reticulum Factor V and factor VIII combined deficiency 2 0 PE1 -NX_Q8NI27 182775 1593 8.67 X Nucleoplasm;Nucleus speckle;Nucleus Mental retardation, X-linked 12 0 PE1 -NX_Q8NI28 22304 216 11.7 7 Membrane NA 1 PE5 -NX_Q8NI29 31623 283 8.92 19 Nucleoplasm NA 0 PE1 -NX_Q8NI32 20656 183 7.97 2 Cell membrane NA 0 PE1 -NX_Q8NI35 196368 1801 4.84 1 Apical cell membrane;Cytosol;Cell membrane;Microtubule organizing center;Perinuclear region;Cell junction;Tight junction NA 0 PE1 -NX_Q8NI36 105322 951 7.33 5 Nucleolus Glaucoma 1, open angle, G 0 PE1 -NX_Q8NI37 32646 304 4.99 12 Cytosol;Cell membrane NA 0 PE1 -NX_Q8NI38 33481 313 6.9 19 Mitochondrion;Nucleus NA 0 PE1 -NX_Q8NI51 75747 663 8.58 20 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8NI60 71950 647 6.51 1 Mitochondrion;Membrane Coenzyme Q10 deficiency, primary, 4 1 PE1 -NX_Q8NI77 102281 898 9.09 11 Ruffle;Cytoskeleton;Nucleus;Centrosome;Cytoplasm NA 0 PE1 -NX_Q8NI99 51694 470 8.78 19 Secreted NA 0 PE1 -NX_Q8TA86 26107 221 9.8 7 Cytosol;Nucleus Retinitis pigmentosa 9 0 PE1 -NX_Q8TA94 55434 476 9.34 19 Nucleus NA 0 PE1 -NX_Q8TAA1 22427 199 6.1 14 Secreted NA 0 PE2 -NX_Q8TAA3 28530 256 9.07 18 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8TAA5 25431 225 7.63 5 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q8TAA9 59975 524 8.94 1 Cell membrane Neural tube defects;Sacral defect with anterior meningocele 4 PE1 -NX_Q8TAB3 126253 1148 5.19 X Cytosol;Cell membrane Epileptic encephalopathy, early infantile, 9 1 PE1 -NX_Q8TAB5 24968 229 5.17 1 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8TAB7 13192 109 9.51 8 NA NA 0 PE5 -NX_Q8TAC1 17762 157 6.37 5 Nucleoplasm NA 0 PE1 -NX_Q8TAC2 20756 188 6.91 19 Cytosol NA 0 PE1 -NX_Q8TAC9 26104 235 8.8 15 Synaptic vesicle membrane;trans-Golgi network membrane;Golgi apparatus;Cell membrane;Golgi apparatus membrane;Recycling endosome membrane NA 4 PE1 -NX_Q8TAD2 21893 202 9.25 13 Secreted NA 0 PE1 -NX_Q8TAD4 84047 765 6.87 5 Nucleus;trans-Golgi network membrane;Golgi apparatus NA 16 PE1 -NX_Q8TAD7 6407 63 6.11 12 Cytoplasmic vesicle NA 0 PE1 -NX_Q8TAD8 45778 396 10 1 Cytosol;Nucleoplasm;Nucleus Psychomotor retardation, epilepsy, and craniofacial dysmorphism 0 PE1 -NX_Q8TAE6 17843 165 5.09 6 Cytoplasm;Membrane NA 0 PE1 -NX_Q8TAE7 49593 436 8.6 2 Cytosol;Cytoplasm;Cell membrane NA 6 PE1 -NX_Q8TAE8 25384 222 10.03 19 Mitochondrion;Nucleus NA 0 PE1 -NX_Q8TAF3 76210 677 6.59 3 Cytoplasmic vesicle;Cytoplasm;Late endosome;Nucleus;Lysosome NA 0 PE1 -NX_Q8TAF5 10021 88 11.38 1 NA NA 0 PE5 -NX_Q8TAF7 66214 563 8.61 19 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8TAF8 24201 219 6.69 6 Cell membrane Deafness, autosomal recessive, 67 4 PE1 -NX_Q8TAG5 25833 236 8.39 7 Secreted NA 0 PE1 -NX_Q8TAG6 22584 207 10.05 8 Nucleus speckle;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q8TAG9 93722 804 5.82 10 Nucleoplasm;Cytoplasm;Midbody ring;Cytoplasmic vesicle;Perinuclear region;Growth cone NA 0 PE1 -NX_Q8TAI1 13402 123 12.04 18 NA NA 0 PE5 -NX_Q8TAI7 20682 183 6.24 12 Cytoplasm;Nucleus;Centrosome;Endomembrane system NA 0 PE1 -NX_Q8TAK5 48650 448 5.15 1 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q8TAK6 27905 271 9.71 21 Nucleus NA 0 PE1 -NX_Q8TAL5 52222 461 9.01 9 Cytosol NA 0 PE1 -NX_Q8TAL6 24273 211 5.3 11 Endoplasmic reticulum;Golgi apparatus;Secreted NA 0 PE1 -NX_Q8TAM1 80838 723 7.95 12 Nucleoplasm;Cilium Bardet-Biedl syndrome 10 0 PE1 -NX_Q8TAM2 61534 541 6.33 14 Cytoplasm;Centriolar satellite;Centrosome;Cilium;Cilium membrane Bardet-Biedl syndrome 8;Retinitis pigmentosa 51 0 PE1 -NX_Q8TAM6 32783 284 4.75 2 Cytoskeleton NA 0 PE1 -NX_Q8TAP4 16594 145 8.6 12 NA NA 0 PE1 -NX_Q8TAP6 74413 659 6.31 18 Centriole;Centrosome NA 0 PE1 -NX_Q8TAP8 27953 253 8.9 7 Nucleoplasm NA 0 PE1 -NX_Q8TAP9 19147 179 10.23 7 Golgi apparatus;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Centrosome Trichothiodystrophy 4, non-photosensitive 0 PE1 -NX_Q8TAQ2 132879 1214 5.49 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8TAQ5 80247 688 8.94 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8TAQ9 40503 357 7.68 7 Nucleus inner membrane;Nucleus envelope;Golgi apparatus;Membrane NA 1 PE1 -NX_Q8TAS1 46546 419 5.59 1 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8TAT2 27590 258 9.96 10 Secreted NA 0 PE1 -NX_Q8TAT5 67769 605 9.23 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8TAT6 68120 608 5.94 17 Cytosol;Nucleoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q8TAT8 10982 98 11.47 11 NA NA 0 PE5 -NX_Q8TAU0 38406 364 7.19 10 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q8TAU3 65733 575 9.29 19 Nucleus NA 0 PE1 -NX_Q8TAV0 35049 307 9.33 1 NA NA 0 PE1 -NX_Q8TAV3 53844 490 9.03 7 Endoplasmic reticulum lumen;Cell membrane NA 0 PE1 -NX_Q8TAV4 32135 291 8.83 13 Cell membrane NA 1 PE1 -NX_Q8TAV5 15559 145 7.73 11 Cytosol;Secreted NA 0 PE2 -NX_Q8TAW3 60972 534 9.06 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8TAX0 29611 266 9.77 2 Nucleus NA 0 PE1 -NX_Q8TAX7 39159 377 8.99 4 Secreted Asthma 0 PE1 -NX_Q8TAX9 46786 411 5.15 17 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8TAY7 28710 271 10.08 1 NA NA 0 PE2 -NX_Q8TAZ6 27496 248 9.91 16 Membrane NA 3 PE1 -NX_Q8TB03 36670 319 5.92 X Cytosol NA 0 PE1 -NX_Q8TB05 18954 177 6.13 16 Cytosol;Nucleus;Cell junction NA 0 PE1 -NX_Q8TB22 87899 786 7.08 17 Nucleoplasm;Secreted NA 0 PE1 -NX_Q8TB24 107854 985 6.17 14 Cytoplasmic vesicle;Cytoplasm;Early endosome NA 0 PE1 -NX_Q8TB33 10359 94 11.18 X NA NA 0 PE4 -NX_Q8TB36 41346 358 8.48 8 Cytosol;Cytoplasm;Mitochondrion;Mitochondrion outer membrane Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease, recessive, intermediate type, A;Charcot-Marie-Tooth disease 2K;Charcot-Marie-Tooth disease 4A 2 PE1 -NX_Q8TB37 34083 319 9.17 14 Mitochondrion Mitochondrial complex I deficiency 0 PE1 -NX_Q8TB40 38794 342 7.13 14 Nucleus NA 0 PE1 -NX_Q8TB45 46294 409 8.29 8 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q8TB52 82304 745 5.21 6 Cytoskeleton NA 0 PE1 -NX_Q8TB61 47515 432 9.32 6 Cytoplasmic vesicle;Golgi apparatus membrane NA 9 PE1 -NX_Q8TB68 30930 274 8.91 5 Synapse;Cytosol;Nucleoplasm;Cell membrane;Dendrite;Perinuclear region;Postsynaptic cell membrane;Nucleus NA 1 PE1 -NX_Q8TB69 63020 540 9.48 18 Nucleolus;Nucleus NA 0 PE1 -NX_Q8TB72 114216 1066 6.61 2 Cytosol;Cytoplasm;Perinuclear region;Cytoplasmic granule NA 0 PE1 -NX_Q8TB73 64673 568 9.07 4 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q8TB92 39514 370 6.12 6 Endoplasmic reticulum membrane;Cytosol NA 0 PE1 -NX_Q8TB96 68108 612 5.15 16 Cytoskeleton;Membrane;Secreted NA 1 PE1 -NX_Q8TBA6 83024 731 5.6 14 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q8TBB0 25691 222 8.99 4 Nucleus;Centrosome NA 0 PE1 -NX_Q8TBB1 80629 728 6.67 4 Cytosol;Cytoplasm;Cell junction NA 0 PE1 -NX_Q8TBB5 57892 520 5.52 16 Nucleolus NA 0 PE1 -NX_Q8TBB6 84052 771 5.13 3 Lysosome membrane Retinitis pigmentosa 68 15 PE1 -NX_Q8TBC3 76344 707 8.58 19 Cell junction;Lysosome NA 0 PE1 -NX_Q8TBC4 51852 463 5.3 3 Cytosol;Nucleoplasm;Nucleus;Centrosome;Cell membrane NA 0 PE1 -NX_Q8TBC5 54804 510 4.76 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8TBE0 84652 780 9.27 15 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q8TBE1 18976 160 6.17 1 Postsynaptic cell membrane NA 3 PE2 -NX_Q8TBE3 25275 224 5.33 5 Membrane NA 1 PE2 -NX_Q8TBE7 46422 412 6.99 3 Endosome;Cell membrane NA 10 PE1 -NX_Q8TBE9 27813 248 6.01 20 Nucleus membrane NA 0 PE1 -NX_Q8TBF2 21223 198 6.2 1 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q8TBF4 24592 217 8.69 12 Nucleoplasm NA 0 PE1 -NX_Q8TBF5 28788 258 5.91 3 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8TBF8 42392 368 8.98 15 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8TBG4 55671 499 8.32 4 Mitochondrion;Nucleus NA 0 PE1 -NX_Q8TBG9 29166 265 6.07 3 Synaptosome;Synaptic vesicle membrane;Golgi apparatus;Cell membrane NA 4 PE1 -NX_Q8TBH0 44379 407 9.33 19 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8TBJ4 35795 325 7.04 9 Nucleoplasm;Membrane NA 6 PE1 -NX_Q8TBJ5 48811 459 9.52 3 Nucleus NA 0 PE2 -NX_Q8TBK2 53189 473 5.24 16 Cytosol;Nucleus NA 0 PE1 -NX_Q8TBK6 20967 192 8.69 5 Nucleolus;Nucleus NA 0 PE1 -NX_Q8TBM7 14243 123 9.7 10 Nucleoplasm;Cell membrane;Membrane NA 3 PE1 -NX_Q8TBM8 42516 379 8.79 4 Endoplasmic reticulum membrane;Nucleus membrane NA 1 PE1 -NX_Q8TBN0 42637 382 6.07 11 Cytosol NA 0 PE1 -NX_Q8TBP0 86372 767 5.55 17 Cytoskeleton NA 0 PE1 -NX_Q8TBP5 19954 190 5.92 5 Cytosol;Golgi apparatus;Membrane NA 1 PE1 -NX_Q8TBP6 38125 338 9.43 7 Mitochondrion inner membrane NA 6 PE1 -NX_Q8TBQ9 8060 72 9.26 5 Golgi apparatus membrane NA 1 PE1 -NX_Q8TBR4 17020 150 5.92 7 NA NA 0 PE5 -NX_Q8TBR5 12399 109 12.01 19 NA NA 0 PE5 -NX_Q8TBR7 29383 257 9.57 17 Cell membrane NA 7 PE1 -NX_Q8TBX8 47300 421 6.36 12 Cytoplasmic vesicle;Cytoplasm;Membrane NA 0 PE1 -NX_Q8TBY0 60023 533 7.56 4 NA NA 0 PE1 -NX_Q8TBY8 119079 1022 5.94 16 Endoplasmic reticulum NA 0 PE1 -NX_Q8TBY9 129952 1149 4.99 12 Cytosol;Golgi apparatus;Cell membrane;Cilium axoneme NA 0 PE1 -NX_Q8TBZ0 96726 833 5.88 4 Nucleus NA 0 PE1 -NX_Q8TBZ2 108153 947 7.13 17 Cytoplasmic vesicle;Cytoplasm;Membrane NA 0 PE1 -NX_Q8TBZ3 62893 569 8.26 14 NA NA 0 PE1 -NX_Q8TBZ5 62920 544 9.02 3 Nucleus NA 0 PE1 -NX_Q8TBZ6 39719 339 7.29 4 Cytosol;Nucleoplasm;Cytoskeleton;Nucleolus;Nucleus Microcephaly, short stature, and impaired glucose metabolism 1 0 PE1 -NX_Q8TBZ8 63735 553 8.99 19 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8TBZ9 29483 253 7.21 7 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q8TC05 80735 714 9.16 12 Centriole;Cytosol;Nucleus;Centrosome NA 0 PE1 -NX_Q8TC07 79491 691 5.44 12 Mitochondrion;Cytoplasm;Cytosol NA 0 PE1 -NX_Q8TC12 35386 318 9.05 14 Endoplasmic reticulum membrane Retinal dystrophy, juvenile cataracts, and short stature syndrome 1 PE1 -NX_Q8TC17 13442 118 7.89 17 NA NA 0 PE2 -NX_Q8TC20 90250 777 5.21 6 NA NA 0 PE1 -NX_Q8TC21 58513 504 9.19 8 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q8TC26 31469 289 7.06 2 Synaptic vesicle membrane;Early endosome membrane NA 6 PE1 -NX_Q8TC27 87948 787 5.39 8 Cytoplasmic vesicle;Nucleus;Membrane NA 1 PE1 -NX_Q8TC29 29454 256 9.34 10 Flagellum NA 0 PE1 -NX_Q8TC36 43081 379 8.61 20 Nucleus inner membrane;Golgi apparatus Spermatogenic failure 16 1 PE1 -NX_Q8TC41 59372 542 7.65 6 Membrane NA 1 PE1 -NX_Q8TC44 53668 478 6.79 12 Centriole;Centrosome;Spindle pole;Cilium basal body Cone-rod dystrophy 20 0 PE1 -NX_Q8TC56 64756 605 9.52 5 Nucleus NA 0 PE1 -NX_Q8TC57 59386 530 6.4 2 Mitochondrion;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q8TC59 109849 973 9.16 8 Cytoplasm NA 0 PE1 -NX_Q8TC71 61109 538 8.93 4 Cytoplasm;Mitochondrion outer membrane NA 0 PE1 -NX_Q8TC76 40728 370 9.45 8 Mitochondrion;Cytoplasm;Cytosol;Centrosome NA 0 PE1 -NX_Q8TC84 38341 345 8.93 10 Cytosol;Nucleoplasm;Nucleus;Cilium;Cilium basal body NA 0 PE1 -NX_Q8TC90 46482 406 4.64 12 NA NA 0 PE1 -NX_Q8TC92 73348 643 5.4 13 Extracellular space;Cell membrane NA 0 PE1 -NX_Q8TC94 45627 416 6.61 19 Cytoskeleton NA 0 PE1 -NX_Q8TC99 35921 324 5.01 17 NA NA 0 PE1 -NX_Q8TCA0 20509 184 6.11 10 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8TCB0 50491 444 6.44 1 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q8TCB6 35271 317 8.71 11 Cell membrane NA 7 PE2 -NX_Q8TCB7 33251 284 5.85 3 Cytoplasmic vesicle NA 0 PE1 -NX_Q8TCC3 18546 161 10.01 2 Mitochondrion NA 0 PE1 -NX_Q8TCC7 59856 542 9.07 11 Basolateral cell membrane NA 11 PE1 -NX_Q8TCD1 8669 76 9.24 18 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q8TCD5 23383 201 6.18 17 Cytosol;Cytoplasm NA 0 PE1 -NX_Q8TCD6 27769 241 6.31 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q8TCE6 40513 357 6.15 10 NA NA 0 PE1 -NX_Q8TCE9 16094 139 6.4 19 Nucleus NA 0 PE1 -NX_Q8TCF1 30787 268 7.14 8 Cytosol;Stress granule;Centrosome NA 0 PE1 -NX_Q8TCG1 102185 905 5.85 3 Cytosol;Cytoplasm;Cell membrane;Membrane NA 1 PE1 -NX_Q8TCG2 54744 481 5.71 4 Cytosol;Cytoplasm;Membrane NA 0 PE1 -NX_Q8TCG5 90989 803 8.33 19 Synapse;Endoplasmic reticulum;Mitochondrion outer membrane;Axon;Dendrite;Centrosome Spastic paraplegia 73, autosomal dominant 2 PE1 -NX_Q8TCH9 14227 128 7.15 22 NA NA 0 PE2 -NX_Q8TCI5 21973 191 9.91 1 Cytoplasmic vesicle;Cytoplasm;trans-Golgi network NA 0 PE1 -NX_Q8TCJ0 43313 367 8.35 8 Nucleus NA 0 PE1 -NX_Q8TCJ2 93674 826 9.04 3 Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1X 13 PE1 -NX_Q8TCN5 105767 953 5.47 19 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q8TCP9 66276 573 5.82 7 Membrane NA 1 PE1 -NX_Q8TCQ1 32308 289 8.76 4 Lysosome membrane;trans-Golgi network membrane;Early endosome membrane;Cell membrane;Late endosome membrane;Mitochondrion;Cytoplasmic vesicle membrane NA 2 PE1 -NX_Q8TCS8 85951 783 7.87 2 Mitochondrion;Cytoplasm;Mitochondrion intermembrane space Combined oxidative phosphorylation deficiency 13;Deafness, autosomal recessive, 70 0 PE1 -NX_Q8TCT0 59977 537 8.54 22 Cytoplasmic vesicle;Cytoplasm;Membrane NA 0 PE1 -NX_Q8TCT1 29713 267 7.64 17 Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q8TCT6 42261 384 8.64 12 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus;Cell membrane;Membrane NA 9 PE1 -NX_Q8TCT7 64644 592 8.67 19 Lysosome membrane;Nucleoplasm;Cell membrane;Endosome membrane;Golgi apparatus membrane;Membrane;Centrosome NA 9 PE1 -NX_Q8TCT8 58143 520 8.65 15 Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane;Membrane NA 9 PE1 -NX_Q8TCT9 41488 377 6 20 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum;Membrane NA 9 PE1 -NX_Q8TCU3 52114 470 9.08 8 Membrane NA 12 PE2 -NX_Q8TCU4 461062 4168 5.87 2 Cytosol;Centrosome;Cytoplasm;Spindle pole;Cilium basal body Alstrom syndrome 0 PE1 -NX_Q8TCU5 125465 1115 7.4 9 Postsynaptic density;Postsynaptic cell membrane;Cell membrane NA 3 PE1 -NX_Q8TCU6 186203 1659 6.03 20 Cytosol;Cytoplasm;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q8TCV5 24238 224 8.4 20 Secreted NA 0 PE1 -NX_Q8TCW7 45530 415 7.92 3 Nucleoplasm;Cytoplasmic vesicle membrane;Extracellular matrix NA 1 PE2 -NX_Q8TCW9 44770 393 8.68 2 Cell membrane NA 7 PE1 -NX_Q8TCX1 39625 351 7.1 2 Cytosol;Cytoplasm;Centrosome;Cilium axoneme;Cilium;Cilium basal body Short-rib thoracic dysplasia 15 with polydactyly 0 PE1 -NX_Q8TCX5 73590 670 7.3 8 Nucleoplasm NA 0 PE1 -NX_Q8TCY0 7880 68 9.49 21 Membrane NA 1 PE2 -NX_Q8TCY5 19136 172 7.75 21 Endoplasmic reticulum membrane;Cell membrane Glucocorticoid deficiency 2 1 PE1 -NX_Q8TCY9 104987 931 6 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8TCZ2 27986 262 4.92 X Golgi apparatus;Cell junction;Cell membrane NA 1 PE1 -NX_Q8TCZ7 5991 52 8.8 21 NA NA 0 PE5 -NX_Q8TD06 19171 166 7.76 7 Cytoplasmic vesicle;Endoplasmic reticulum NA 0 PE1 -NX_Q8TD07 30122 263 8.45 6 Cytosol;Focal adhesion;Secreted;Membrane NA 1 PE1 -NX_Q8TD08 59832 544 9.17 8 Golgi apparatus;Nucleoplasm;Cytoplasm;Centriole;Cytosol;Nucleus;Autophagosome;Spindle;Cell junction;Tight junction;Cilium basal body NA 0 PE1 -NX_Q8TD10 51537 442 5.55 14 Cytosol NA 0 PE1 -NX_Q8TD16 93533 824 5.35 9 Golgi apparatus;Cytosol;Cytoplasm;Nuclear pore complex;Nucleus envelope;Cell membrane;Cytoskeleton Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant 0 PE1 -NX_Q8TD17 71311 642 6.2 7 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8TD19 107168 979 5.51 14 Mitochondrion;Cytoplasm;Nucleus Arthrogryposis, Perthes disease, and upward gaze palsy;Nevus comedonicus;Lethal congenital contracture syndrome 10 0 PE1 -NX_Q8TD20 66966 617 8.66 6 Perinuclear region;Cell junction;Cell membrane;Endomembrane system NA 12 PE1 -NX_Q8TD22 37124 340 9.4 2 Mitochondrion;Nucleoplasm;Mitochondrion membrane NA 4 PE1 -NX_Q8TD23 66299 568 9.11 19 Nucleus NA 0 PE1 -NX_Q8TD26 305412 2715 5.9 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8TD30 57904 523 7.85 16 Mitochondrion Mental retardation, autosomal recessive 49 0 PE1 -NX_Q8TD31 88671 782 5.76 6 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8TD33 10414 95 4.55 11 Secreted NA 0 PE3 -NX_Q8TD35 21508 194 10.61 20 Nucleus NA 0 PE1 -NX_Q8TD43 134301 1214 8.49 19 Nucleoplasm;Cell membrane;Endoplasmic reticulum;Golgi apparatus Progressive familial heart block 1B 6 PE1 -NX_Q8TD46 36620 325 8.19 3 Cell membrane;Secreted NA 1 PE1 -NX_Q8TD47 29295 263 10.1 Y NA NA 0 PE2 -NX_Q8TD55 53350 490 5.34 15 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q8TD57 470771 4116 6.04 16 Cytoskeleton;Cilium axoneme;Nucleus membrane NA 0 PE1 -NX_Q8TD84 224463 2053 8.43 11 Synapse;Cell membrane NA 1 PE1 -NX_Q8TD86 20690 181 4.47 1 Cytoplasm;Nucleus NA 0 PE2 -NX_Q8TD90 60378 523 5 X NA NA 0 PE2 -NX_Q8TD91 71909 643 4.77 X NA NA 0 PE1 -NX_Q8TD94 33094 323 8.26 7 Nucleus NA 0 PE1 -NX_Q8TDB4 25390 240 4.4 4 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_Q8TDB6 83554 740 8.31 3 Lysosome membrane;Cytosol;Cytoplasm;Early endosome membrane;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8TDB8 56320 520 8 12 Membrane NA 12 PE1 -NX_Q8TDC0 27157 251 9.42 5 Z line NA 0 PE1 -NX_Q8TDC3 85087 778 9.39 19 Nucleoplasm;Cytoplasm;Synapse;Nucleus;Centrosome NA 0 PE1 -NX_Q8TDD1 98595 881 10.03 12 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8TDD2 44994 431 8.67 12 Nucleus Osteogenesis imperfecta 12 0 PE1 -NX_Q8TDD5 64248 553 5.8 1 Autophagosome membrane;Nucleolus;Cytosol;Early endosome membrane;Cell membrane;Late endosome membrane;Lysosome membrane NA 6 PE1 -NX_Q8TDE3 17041 154 8.69 14 Secreted NA 0 PE1 -NX_Q8TDF5 60191 533 6.61 18 Postsynaptic density;Cell membrane;Golgi apparatus;Secreted NA 1 PE1 -NX_Q8TDF6 74882 673 8.34 19 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8TDG2 41696 376 6.32 X Cytoplasm;Cytoskeleton;Nucleus NA 0 PE2 -NX_Q8TDG4 124131 1101 6.17 4 Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_Q8TDH9 21609 187 7.14 6 NA NA 0 PE1 -NX_Q8TDI0 223050 1954 5.82 1 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8TDI7 102610 906 9.5 20 Cell membrane NA 6 PE2 -NX_Q8TDI8 87768 760 6.22 9 Cell membrane Deafness, autosomal dominant, 36;Deafness, autosomal recessive, 7 6 PE1 -NX_Q8TDJ6 339641 3036 5.93 15 Synaptic vesicle membrane Deafness, autosomal dominant, 71;Polyendocrine-polyneuropathy syndrome 0 PE1 -NX_Q8TDL5 52442 484 6.72 20 Secreted NA 0 PE1 -NX_Q8TDM0 22758 211 5.59 20 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q8TDM5 13004 124 5.49 19 Acrosome;Cell membrane NA 0 PE1 -NX_Q8TDM6 213868 1919 7.1 10 Postsynaptic density;Cell junction;Cell membrane;Cilium basal body NA 0 PE1 -NX_Q8TDN1 58979 519 6.23 16 Cell membrane NA 6 PE1 -NX_Q8TDN2 62459 545 6.08 9 Cell membrane Cone dystrophy retinal 3B 6 PE1 -NX_Q8TDN4 67599 633 9.32 18 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8TDN6 41401 353 9.92 5 Nucleolus;Nucleus NA 0 PE1 -NX_Q8TDN7 31095 264 6.64 19 Endoplasmic reticulum membrane NA 7 PE2 -NX_Q8TDP1 17840 164 4.95 11 Nucleus Aicardi-Goutieres syndrome 3 0 PE1 -NX_Q8TDQ0 33394 301 5.54 5 Cell junction;Membrane NA 1 PE1 -NX_Q8TDQ1 32335 290 5.45 17 Cell membrane NA 1 PE1 -NX_Q8TDQ7 31085 276 6.45 4 Cytoplasm NA 0 PE1 -NX_Q8TDR0 78632 691 7.95 2 Cytoskeleton;Cilium;Cilium axoneme;Cilium basal body Senior-Loken syndrome 9 0 PE1 -NX_Q8TDR2 58051 534 9.78 20 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q8TDR4 23863 215 9.71 21 Nucleus NA 0 PE1 -NX_Q8TDS4 41850 363 9.34 12 Cell membrane NA 7 PE1 -NX_Q8TDS5 45811 423 9.75 2 Cell membrane NA 7 PE1 -NX_Q8TDS7 36118 321 9.25 11 Cell membrane NA 7 PE2 -NX_Q8TDT2 50962 470 4.59 11 Cell membrane NA 7 PE1 -NX_Q8TDU5 23857 208 9.14 1 Cell membrane NA 5 PE5 -NX_Q8TDU6 35248 330 9.62 2 Cell membrane NA 7 PE1 -NX_Q8TDU9 41141 374 10.32 1 Cell membrane NA 7 PE1 -NX_Q8TDV0 46637 419 6.13 5 Cell membrane NA 7 PE2 -NX_Q8TDV2 38288 347 8.81 2 Cell membrane NA 7 PE2 -NX_Q8TDV5 36889 335 9.1 X Cell membrane NA 7 PE1 -NX_Q8TDW0 92450 803 7.54 1 Endoplasmic reticulum membrane;Cell membrane;Golgi apparatus NA 4 PE1 -NX_Q8TDW4 64779 575 7.26 1 Centrosome;Membrane NA 2 PE1 -NX_Q8TDW5 81523 730 8.96 X Cytosol;Nucleoplasm;Cytoskeleton;Membrane NA 0 PE1 -NX_Q8TDW7 501978 4557 4.72 11 Membrane NA 1 PE1 -NX_Q8TDX5 38035 336 6.52 2 NA NA 0 PE1 -NX_Q8TDX6 61294 532 8.63 8 Golgi stack membrane;Cytoskeleton NA 1 PE1 -NX_Q8TDX7 34551 302 8.49 1 Nucleoplasm;Cytoplasm;Nucleus;Spindle pole;Centrosome NA 0 PE1 -NX_Q8TDX9 315435 2849 6.64 7 Cilium membrane Heterotaxy, visceral, 8, autosomal 11 PE1 -NX_Q8TDY2 183091 1594 5.3 8 Nucleus membrane;Lysosome;Cytosol;Cytoplasm;Preautophagosomal structure;Nucleus NA 0 PE1 -NX_Q8TDY3 41702 377 5.28 1 Cytoskeleton NA 0 PE1 -NX_Q8TDY4 99155 903 5.98 1 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q8TDY8 134210 1250 5.81 15 Cytosol;Nucleoplasm;Cell membrane NA 1 PE1 -NX_Q8TDZ2 117875 1067 6 6 Cytoplasm;Cytoskeleton;Midbody NA 0 PE1 -NX_Q8TE02 34841 316 4.81 17 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8TE04 64339 598 7.51 10 Cytoplasm NA 0 PE1 -NX_Q8TE12 42747 382 7.03 1 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8TE23 95183 839 6.08 1 Cell membrane NA 7 PE3 -NX_Q8TE49 100677 926 8.68 15 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q8TE54 72213 656 8.17 8 Recycling endosome membrane NA 11 PE1 -NX_Q8TE56 121127 1095 8.47 15 Nucleus;Extracellular matrix Weill-Marchesani syndrome 4 0 PE1 -NX_Q8TE57 136203 1224 8.99 5 Extracellular matrix NA 0 PE1 -NX_Q8TE58 103287 950 8.94 11 Cytosol;Extracellular matrix NA 0 PE1 -NX_Q8TE59 134048 1207 7.8 5 Cytoplasmic vesicle;Midbody;Extracellular matrix NA 0 PE1 -NX_Q8TE60 135167 1221 8.91 16 Extracellular matrix Microcornea, myopic chorioretinal atrophy, and telecanthus 0 PE1 -NX_Q8TE67 66861 593 8.09 1 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q8TE68 80251 723 5.76 19 Cytosol;Cytoplasm NA 0 PE1 -NX_Q8TE69 17891 158 6.43 X NA NA 0 PE1 -NX_Q8TE73 529021 4624 5.79 5 Cilium axoneme Ciliary dyskinesia, primary, 3 0 PE1 -NX_Q8TE76 106348 937 7.22 X Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8TE77 72996 659 5.19 11 Cytosol;Nucleus speckle;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 -NX_Q8TE82 146961 1336 5.85 4 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q8TE85 70345 626 6.4 1 Nucleoplasm;Nucleus Van der Woude syndrome 2 0 PE1 -NX_Q8TE96 79476 717 4.93 2 Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q8TE99 55240 480 9.17 3 Golgi apparatus membrane NA 1 PE1 -NX_Q8TEA1 51770 469 8.18 10 Golgi apparatus NA 0 PE1 -NX_Q8TEA7 100679 893 6.12 4 Nucleoplasm;Cytoplasm;Spindle;Nucleolus;Midbody Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 PE1 -NX_Q8TEA8 23424 209 8.35 20 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q8TEB1 61670 546 5.97 14 Nucleoplasm NA 0 PE1 -NX_Q8TEB7 46521 428 5.92 X Cytoskeleton;Perinuclear region;Endomembrane system NA 1 PE1 -NX_Q8TEB9 35823 315 8.47 2 Mitochondrion;Endoplasmic reticulum membrane;Endoplasmic reticulum;Membrane NA 4 PE1 -NX_Q8TEC5 79320 729 9.96 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8TED0 58415 518 9.18 5 Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_Q8TED1 23881 209 9.41 5 Cytosol;Cytoskeleton;Membrane NA 1 PE1 -NX_Q8TED4 54436 501 6.36 11 Endoplasmic reticulum membrane NA 12 PE1 -NX_Q8TED9 86432 768 6.38 5 Cytoplasm;Podosome;Invadopodium;Stress fiber NA 0 PE1 -NX_Q8TEE9 20873 199 7.64 7 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8TEF2 14519 133 8.75 10 Membrane NA 1 PE2 -NX_Q8TEH3 110577 1009 6.51 9 Cytosol;Cytoplasmic vesicle;Clathrin-coated vesicle membrane;Presynaptic cell membrane;Nucleoplasm NA 0 PE1 -NX_Q8TEJ3 92776 882 9.09 2 Nucleoplasm;Cytosol;Centrosome NA 0 PE1 -NX_Q8TEK3 164856 1537 9.26 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8TEL6 90852 797 7.54 20 Cytosol NA 0 PE1 -NX_Q8TEM1 205111 1887 6.33 3 Endoplasmic reticulum membrane;Nuclear pore complex;Nucleus membrane NA 1 PE1 -NX_Q8TEP8 279111 2537 5.31 18 Cytosol;Centriole;Centrosome NA 0 PE1 -NX_Q8TEQ0 91254 813 5.86 16 NA NA 0 PE1 -NX_Q8TEQ6 168589 1508 6.17 5 Cytosol;Nucleoplasm;Nucleus;Gem;Cytoplasm NA 0 PE1 -NX_Q8TEQ8 118699 1089 8.38 9 Endoplasmic reticulum membrane;Nucleolus;Nucleus Hyperphosphatasia with mental retardation syndrome 2 14 PE1 -NX_Q8TER0 152204 1413 6.59 2 Secreted NA 0 PE1 -NX_Q8TER5 164658 1519 5.8 14 Cytoplasm NA 0 PE1 -NX_Q8TES7 125446 1133 6.62 17 Centriole;Centrosome;Spindle pole;Cell junction NA 0 PE1 -NX_Q8TET4 104334 914 5.82 15 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q8TEU7 179423 1601 5.98 5 Cytosol;Cytoplasm;Centrosome;Cell membrane NA 0 PE1 -NX_Q8TEU8 63941 576 5.85 17 Secreted NA 0 PE1 -NX_Q8TEV8 15285 140 10.67 17 NA NA 0 PE2 -NX_Q8TEV9 105022 937 5.36 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8TEW0 151423 1356 7.41 10 Cytoplasm;Cell cortex;Cell membrane;Endomembrane system;Adherens junction;Cytoskeleton;Cell junction;Tight junction Neural tube defects 0 PE1 -NX_Q8TEW6 37028 326 8.37 16 Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 -NX_Q8TEW8 132494 1205 8.54 2 Nucleoplasm;Nucleus;Cell junction;Tight junction;Endomembrane system NA 0 PE1 -NX_Q8TEX9 118715 1081 4.88 14 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8TEY5 43432 395 5.28 1 Endoplasmic reticulum membrane;Nucleus membrane;Nucleoplasm;Golgi apparatus membrane;Mitochondrion;Nucleus NA 1 PE1 -NX_Q8TEY7 106727 942 5.69 1 Nucleoplasm;Perinuclear region;Centrosome;Golgi apparatus NA 0 PE1 -NX_Q8TEZ7 40464 354 8.69 6 Golgi apparatus;Cell membrane NA 7 PE1 -NX_Q8TF01 92577 805 10.02 6 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q8TF05 107004 950 4.64 18 Nucleoplasm NA 0 PE1 -NX_Q8TF08 9077 81 9.74 4 Mitochondrion inner membrane NA 1 PE2 -NX_Q8TF09 10855 96 6.91 16 Cytoskeleton NA 0 PE1 -NX_Q8TF17 144777 1288 5.95 5 Cytosol;Nucleoplasm Mononeuropathy of the median nerve mild;Charcot-Marie-Tooth disease 4C 0 PE1 -NX_Q8TF20 105084 911 9.55 4 Nucleus NA 0 PE1 -NX_Q8TF21 124187 1146 4.98 19 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q8TF27 60549 550 7.82 10 NA NA 0 PE2 -NX_Q8TF30 90924 809 6.67 15 Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;Cytoplasmic vesicle membrane;cis-Golgi network;Cytoplasm NA 0 PE1 -NX_Q8TF32 67217 576 9.03 19 Nucleus NA 0 PE1 -NX_Q8TF39 85098 744 8.88 9 Nucleolus;Nucleus NA 0 PE1 -NX_Q8TF40 130555 1166 5.33 5 Cytoplasm NA 0 PE1 -NX_Q8TF42 72696 649 6.48 11 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q8TF44 44576 421 9.75 19 Cytoplasmic vesicle NA 0 PE1 -NX_Q8TF45 77858 676 8.75 19 Nucleus NA 0 PE1 -NX_Q8TF46 120787 1054 6.09 15 Cytosol;Cytoplasm;Centrosome;Cell membrane NA 0 PE1 -NX_Q8TF47 73031 636 8.37 16 Cytoplasmic vesicle;Nucleus;Centrosome;Cell membrane NA 0 PE1 -NX_Q8TF50 73622 670 6.01 19 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8TF61 94496 875 8.6 2 Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q8TF62 135868 1192 6.56 15 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus;Cell membrane NA 10 PE1 -NX_Q8TF63 26704 244 9.97 5 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8TF64 33982 312 5.5 19 Nucleoplasm;Nucleus;Golgi apparatus Deafness, autosomal recessive, 15 0 PE1 -NX_Q8TF65 34354 315 6.07 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8TF66 64366 581 6.24 3 Cytoplasmic vesicle;Cell membrane;Membrane NA 1 PE1 -NX_Q8TF68 63219 577 9.18 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8TF71 55493 515 7.87 6 Cytoplasmic vesicle;Basolateral cell membrane;Cell junction;Cell membrane NA 12 PE1 -NX_Q8TF72 216857 1996 7.87 4 Adherens junction;Cytoskeleton NA 0 PE1 -NX_Q8TF74 46289 440 10.93 17 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q8TF76 88495 798 9.32 17 Spindle;Nucleus;Chromosome NA 0 PE1 -NX_Q8WTP8 36350 325 9.4 15 Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q8WTP9 12302 111 4.4 X NA NA 0 PE1 -NX_Q8WTQ1 8526 72 9.41 8 Secreted NA 0 PE1 -NX_Q8WTQ4 30819 265 9.8 16 NA NA 0 PE1 -NX_Q8WTQ7 62212 553 6.18 3 Membrane NA 0 PE1 -NX_Q8WTR2 24194 217 6.11 2 Nucleoplasm NA 0 PE1 -NX_Q8WTR4 68586 605 7.64 11 Perinuclear region;Growth cone;Golgi apparatus;Endomembrane system NA 6 PE1 -NX_Q8WTR7 100182 871 8.63 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8WTR8 53174 489 9.63 19 Endoplasmic reticulum;Secreted NA 0 PE2 -NX_Q8WTS1 39096 349 6.17 3 Cytoplasmic vesicle;Cytoplasm;Lipid droplet Chanarin-Dorfman syndrome 0 PE1 -NX_Q8WTS6 40721 366 4.5 4 Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_Q8WTT0 25038 213 6.59 12 Cell membrane NA 1 PE1 -NX_Q8WTT2 92548 800 9.22 10 Nucleus speckle;Nucleolus;Nucleus NA 0 PE1 -NX_Q8WTU0 44124 396 5.51 11 NA NA 0 PE1 -NX_Q8WTU2 60819 575 5.57 7 Secreted NA 0 PE1 -NX_Q8WTV0 60878 552 8.55 12 Cytoplasmic vesicle;Caveola;Cell membrane NA 2 PE1 -NX_Q8WTV1 27059 239 10.26 1 Nucleus NA 0 PE1 -NX_Q8WTW3 108978 980 6.96 17 Golgi apparatus membrane Congenital disorder of glycosylation 2G 0 PE1 -NX_Q8WTW4 43658 380 6.1 3 Cytosol;Lysosome membrane Epilepsy, familial focal, with variable foci 2 0 PE1 -NX_Q8WTX7 36275 329 5.05 22 Cytosol NA 0 PE1 -NX_Q8WTX9 54818 485 10.35 16 Cytosol;Membrane NA 4 PE1 -NX_Q8WTZ3 27158 238 8.81 19 Nucleus NA 0 PE2 -NX_Q8WTZ4 22622 195 10.76 X NA NA 0 PE5 -NX_Q8WU03 34277 294 6.22 11 Mitochondrion;Endoplasmic reticulum NA 0 PE1 -NX_Q8WU08 46369 396 6.87 5 Centrosome;Cell membrane NA 0 PE1 -NX_Q8WU10 55793 500 5.58 12 Sarcomere;Nucleus speckle;Nucleus Myopathy, myofibrillar, 8 0 PE1 -NX_Q8WU17 75994 664 5.99 8 Endoplasmic reticulum membrane Renal cell carcinoma 12 PE1 -NX_Q8WU20 57029 508 5.65 12 Cell junction;Endomembrane system NA 0 PE1 -NX_Q8WU39 20694 189 5.37 5 Cytoplasm;Endoplasmic reticulum lumen;Secreted NA 0 PE1 -NX_Q8WU43 13691 125 5.92 2 NA NA 0 PE1 -NX_Q8WU49 19475 177 10.26 7 NA NA 0 PE2 -NX_Q8WU58 59652 562 9.35 17 Nucleoplasm NA 0 PE1 -NX_Q8WU66 74924 669 6.01 21 Cell surface;Stereocilium;Secreted Deafness, autosomal recessive, 98 0 PE1 -NX_Q8WU67 46009 409 6.7 18 Cytoplasmic vesicle;Nucleus;Cell membrane;Membrane NA 1 PE1 -NX_Q8WU68 25744 220 6.7 19 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8WU76 75127 684 6.21 4 Nucleus NA 0 PE1 -NX_Q8WU79 46786 429 9.01 1 Cytoplasm NA 0 PE1 -NX_Q8WU90 48602 426 5.22 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8WUA2 57225 492 5.63 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8WUA4 100680 911 6.94 2 Nucleus NA 0 PE1 -NX_Q8WUA7 59121 517 5.63 22 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q8WUA8 37807 353 6.38 11 Nucleus;Secreted NA 0 PE1 -NX_Q8WUB2 30792 273 9.39 12 Cytoskeleton NA 0 PE1 -NX_Q8WUB8 56051 498 6.23 6 Nucleus NA 0 PE1 -NX_Q8WUD1 24214 216 7.69 14 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane NA 0 PE1 -NX_Q8WUD4 19181 166 6.81 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8WUD6 45097 406 6.45 12 Cytoplasmic vesicle;Golgi apparatus membrane NA 8 PE1 -NX_Q8WUE5 29052 264 5.26 X NA NA 0 PE1 -NX_Q8WUF5 89091 828 6.37 19 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8WUF8 47972 416 5.75 5 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Nucleoplasm NA 0 PE1 -NX_Q8WUG5 57686 538 7.14 14 Vacuole membrane;Cell membrane NA 11 PE1 -NX_Q8WUH1 16111 139 5.35 14 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8WUH2 97158 860 6.1 2 Cytoplasmic vesicle;Cytoplasm;Early endosome NA 0 PE1 -NX_Q8WUH6 11748 116 9.3 12 Membrane NA 2 PE1 -NX_Q8WUI4 102927 952 7.24 12 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8WUJ0 25492 223 5.89 14 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q8WUJ1 28690 264 8.73 17 Nucleolus;Centrosome;Nucleus membrane;Secreted NA 0 PE1 -NX_Q8WUJ3 152998 1361 7.98 15 Secreted;Cytoplasm;Clathrin-coated pit;Endoplasmic reticulum;Nucleus;Cell membrane NA 0 PE1 -NX_Q8WUK0 22844 201 9.8 11 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_Q8WUM0 128979 1156 4.97 1 Kinetochore;Nuclear pore complex;Nucleus membrane NA 0 PE1 -NX_Q8WUM4 96023 868 6.13 3 Melanosome;Cytosol;Midbody ring;Centrosome;Exosome;Tight junction NA 0 PE1 -NX_Q8WUM9 73700 679 6.65 2 Cytoplasmic vesicle;Membrane NA 10 PE1 -NX_Q8WUN7 26190 234 5.45 5 Cytoplasm NA 0 PE1 -NX_Q8WUP2 40670 373 5.71 1 Focal adhesion;Nucleolus;Cell junction;Stress fiber NA 0 PE1 -NX_Q8WUQ7 88702 758 9.17 19 Cytosol;Nucleoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q8WUR7 16353 153 9.85 15 Cytosol;Nucleus NA 0 PE1 -NX_Q8WUS8 44284 393 8.43 16 Membrane NA 2 PE2 -NX_Q8WUT4 78843 740 6.82 20 Cytosol;Nucleolus;Membrane NA 1 PE1 -NX_Q8WUT9 37718 341 9.91 X Mitochondrion inner membrane;Nucleus NA 6 PE1 -NX_Q8WUU4 50810 475 9.13 19 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q8WUU5 28690 269 9.47 7 Nucleus Cardiomyopathy, dilated 2B 0 PE1 -NX_Q8WUU8 26287 243 4.2 5 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q8WUW1 8745 75 5.35 3 Nucleus speckle;Cytoskeleton;Cell junction NA 0 PE1 -NX_Q8WUX1 51457 472 8.53 X Cytosol;Cytoplasmic vesicle;Cell membrane NA 11 PE1 -NX_Q8WUX2 20875 184 5.31 2 Cytosol NA 0 PE1 -NX_Q8WUX9 50911 453 5.26 8 Cytosol;Cytoplasm;Nucleus;Nucleus envelope NA 0 PE1 -NX_Q8WUY1 23865 208 9.71 8 Cytosol;Nucleus speckle;Secreted NA 0 PE1 -NX_Q8WUY3 340635 3088 4.34 9 Cytoplasm NA 0 PE1 -NX_Q8WUY8 21650 206 10.75 19 Mitochondrion;Membrane NA 1 PE1 -NX_Q8WUY9 61771 529 9.04 5 Cytosol;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q8WUZ0 23468 217 5.15 16 Nucleoplasm NA 0 PE1 -NX_Q8WV07 15354 137 5.5 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8WV15 34609 326 6.28 13 Nucleoplasm;Membrane NA 4 PE2 -NX_Q8WV16 55694 495 9.38 14 Nucleoplasm NA 0 PE1 -NX_Q8WV19 17804 159 8.98 6 Cytosol;Nucleoplasm;Nucleus;Membrane NA 4 PE1 -NX_Q8WV22 30855 266 7.13 16 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Telomere NA 0 PE1 -NX_Q8WV24 45016 401 9.94 12 Cytoplasmic vesicle;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q8WV28 50466 456 8.18 10 Cytosol;Cytoplasm;Cell membrane Agammaglobulinemia 4, autosomal recessive 0 PE1 -NX_Q8WV35 23797 223 8.08 16 Nucleoplasm NA 0 PE1 -NX_Q8WV37 61708 535 9.26 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8WV41 65265 574 6.3 15 Cytosol;Cytoplasmic vesicle membrane;Membrane NA 0 PE1 -NX_Q8WV44 71670 630 4.99 5 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q8WV48 30509 283 5.04 9 Nucleoplasm;Cell membrane;Membrane NA 1 PE1 -NX_Q8WV60 43968 388 9.33 5 Mitochondrion NA 0 PE1 -NX_Q8WV74 25370 236 8.74 11 Cytosol;Nucleolus NA 0 PE1 -NX_Q8WV83 58887 523 9.39 2 Cell membrane;Membrane NA 10 PE1 -NX_Q8WV92 29314 249 8.12 2 Cytoplasmic vesicle;Late endosome membrane;Midbody;Membrane NA 0 PE1 -NX_Q8WV93 54845 481 6.87 6 Cytosol;Cell membrane;Mitochondrion membrane NA 0 PE1 -NX_Q8WV99 28023 257 6.5 2 Cytosol;Endoplasmic reticulum membrane;Nucleolus;Nucleus NA 0 PE1 -NX_Q8WVB3 53790 486 5.61 17 Mitochondrion;Cytoplasm;Nucleolus;Nucleus;Extracellular vesicle NA 0 PE1 -NX_Q8WVB6 107383 975 6.78 16 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8WVC0 75404 666 4.38 15 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q8WVC6 26550 231 9.61 17 Nucleus NA 0 PE1 -NX_Q8WVD3 28193 245 6.5 18 Mitochondrion;Chromosome NA 0 PE1 -NX_Q8WVD5 25535 230 5.07 11 Nucleoplasm;Cytoskeleton;Membrane NA 0 PE1 -NX_Q8WVE0 24506 214 4.47 13 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8WVE6 34760 324 4.73 5 Membrane NA 4 PE1 -NX_Q8WVE7 15250 144 9.3 16 Endoplasmic reticulum membrane;Nucleus envelope NA 3 PE1 -NX_Q8WVF1 44586 389 5.64 1 Basal cell membrane;Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_Q8WVF2 16563 138 5.47 10 Extracellular matrix NA 0 PE1 -NX_Q8WVF5 29967 259 6.62 13 Microtubule organizing center NA 0 PE1 -NX_Q8WVH0 17557 158 4.89 15 Synapse;Membrane NA 0 PE1 -NX_Q8WVI0 8696 70 10.87 3 Nucleoplasm;Mitochondrion;Cell membrane;Membrane NA 1 PE1 -NX_Q8WVI7 12346 109 6.31 2 Cytoplasm;Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8WVJ2 17676 157 4.99 5 Kinetochore;Cytoplasm;Nucleus;Centrosome;Spindle pole NA 0 PE1 -NX_Q8WVJ9 18124 160 9.51 2 Cytoplasm;Nucleolus;Nucleus Focal facial dermal dysplasia 3, Setleis type;Barber-Say syndrome;Ablepharon-macrostomia syndrome 0 PE1 -NX_Q8WVK2 18860 155 11.62 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8WVK7 14188 121 6.75 17 Kinetochore;Spindle NA 0 PE1 -NX_Q8WVL7 27290 239 5 11 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8WVM0 39543 346 9.35 6 Mitochondrion NA 0 PE1 -NX_Q8WVM7 144427 1258 5.4 3 Centromere;Nucleus;Chromosome Mental retardation, autosomal dominant 47 0 PE1 -NX_Q8WVM8 72380 642 5.89 14 Nucleoplasm;Golgi stack membrane;Endoplasmic reticulum membrane;Cytosol;Cytoplasm NA 0 PE1 -NX_Q8WVN6 27039 248 7 17 Cell membrane;Secreted NA 1 PE1 -NX_Q8WVN8 42818 375 4.87 15 Cytoplasm NA 0 PE1 -NX_Q8WVP5 20827 186 9.57 19 Cytoplasm NA 0 PE1 -NX_Q8WVP7 55098 490 5.68 7 Cytosol;Membrane Hypoplasia or aplasia of tibia with polydactyly;Laurin-Sandrow syndrome;Preaxial polydactyly 2;Syndactyly 4;Acheiropody 9 PE1 -NX_Q8WVQ1 44840 401 5.72 17 Endoplasmic reticulum membrane;Golgi stack membrane;Cell membrane Desbuquois dysplasia 1;Epiphyseal dysplasia, multiple, 7 1 PE1 -NX_Q8WVR3 62597 580 9.13 7 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Microtubule organizing center NA 0 PE1 -NX_Q8WVS4 122571 1066 6.88 7 Cilium;Microtubule organizing center Short-rib thoracic dysplasia 8 with or without polydactyly 0 PE1 -NX_Q8WVT3 79375 735 4.81 2 Endoplasmic reticulum-Golgi intermediate compartment;Nucleus Encephalopathy, progressive, early-onset, with brain atrophy and spasticity 0 PE1 -NX_Q8WVV4 68065 589 5.89 X Nucleoplasm;Tight junction;Golgi apparatus Premature ovarian failure 2B 0 PE1 -NX_Q8WVV5 59070 523 5.73 6 Mitochondrion;Membrane NA 1 PE1 -NX_Q8WVV9 60083 542 7.83 2 Cytosol;Mitochondrion;Nucleus NA 0 PE1 -NX_Q8WVX3 7604 66 5.07 4 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_Q8WVX9 59357 515 9.25 11 Peroxisome membrane;Peroxisome Peroxisomal fatty acyl-CoA reductase 1 disorder 1 PE1 -NX_Q8WVY7 36805 318 6.07 5 Nucleolus;Nucleus NA 0 PE1 -NX_Q8WVZ1 34352 309 8.54 3 Membrane NA 4 PE1 -NX_Q8WVZ7 42294 376 7.22 7 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8WVZ9 77163 684 5.35 13 NA NA 0 PE1 -NX_Q8WW01 18641 171 4.46 1 Nucleolus;Nucleus Pontocerebellar hypoplasia 2F 0 PE1 -NX_Q8WW12 18925 178 6.86 3 Nucleus NA 0 PE1 -NX_Q8WW14 26343 234 8.67 10 Mitochondrion NA 0 PE1 -NX_Q8WW18 19346 174 5.26 17 Nucleoplasm NA 0 PE1 -NX_Q8WW22 44798 397 7.52 15 Cytosol;Cell membrane;Membrane NA 0 PE1 -NX_Q8WW24 50649 435 6.01 2 Cytoskeleton;Flagellum NA 0 PE1 -NX_Q8WW27 41581 367 8.08 1 NA NA 0 PE2 -NX_Q8WW32 22490 186 10.21 1 Nucleus;Chromosome NA 0 PE1 -NX_Q8WW33 19266 167 6.04 12 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q8WW34 21842 195 8.5 20 Membrane NA 2 PE1 -NX_Q8WW35 16122 142 4.82 3 Cytosol Short-rib thoracic dysplasia 17 with or without polydactyly 0 PE1 -NX_Q8WW36 18005 166 9.33 X NA NA 0 PE1 -NX_Q8WW38 128159 1151 6.03 8 Nucleoplasm;Nucleus Tetralogy of Fallot;Diaphragmatic hernia 3;Conotruncal heart malformations;46,XY sex reversal 9 0 PE1 -NX_Q8WW43 28460 257 9.21 15 Endoplasmic reticulum;Membrane NA 7 PE1 -NX_Q8WW52 64028 585 6.19 1 Nucleoplasm;Membrane NA 1 PE1 -NX_Q8WW59 23129 207 6.44 12 Nucleoplasm NA 0 PE1 -NX_Q8WW62 27631 240 8.38 16 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8WWA0 34962 313 5.66 1 Cell membrane;Secreted NA 0 PE1 -NX_Q8WWA1 25495 233 5.36 3 Cytosol;Membrane NA 2 PE1 -NX_Q8WWB3 20893 177 4.64 10 NA NA 0 PE1 -NX_Q8WWB5 35957 315 5.96 11 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8WWB7 43864 406 6.1 1 Lysosome membrane NA 1 PE1 -NX_Q8WWC4 32545 291 9.31 2 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q8WWF1 14923 131 4 1 Cell membrane;Secreted NA 0 PE2 -NX_Q8WWF3 28167 244 7.64 7 Membrane NA 1 PE1 -NX_Q8WWF5 46958 429 8.34 19 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8WWF6 16559 145 4.85 2 NA NA 0 PE1 -NX_Q8WWF8 24229 208 5.76 5 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q8WWG1 12722 115 6.12 15 Cell membrane;Secreted NA 1 PE1 -NX_Q8WWG9 23806 221 4.68 2 Cytoskeleton;Nucleus;Membrane NA 1 PE1 -NX_Q8WWH4 53458 475 5.6 7 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q8WWH5 37253 349 8.44 10 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q8WWI1 192696 1683 8.34 13 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q8WWI5 73302 657 8.93 9 Mitochondrion;Nucleoplasm;Cell membrane;Mitochondrion outer membrane NA 9 PE1 -NX_Q8WWK9 76987 683 9.45 13 Cytosol;Cytoskeleton;Spindle;Spindle pole NA 0 PE1 -NX_Q8WWL2 79671 714 7.75 16 Cytosol;Cell membrane;Cytoplasmic vesicle;Nucleus;Cytoskeleton;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q8WWL7 157916 1395 6.28 X Nucleus speckle;Nucleus NA 0 PE1 -NX_Q8WWM1 12077 108 4.81 X Nucleoplasm;Cytoplasmic vesicle NA 0 PE3 -NX_Q8WWM7 113374 1075 8.7 16 Cytosol;Cytoplasm;Cytoplasmic granule;Nucleus speckle;Membrane NA 0 PE1 -NX_Q8WWM9 21405 190 6.32 17 Cytoplasm;Nucleus speckle NA 0 PE1 -NX_Q8WWN8 169844 1544 6.69 5 Cytoplasm;Cytoskeleton;Ruffle;Cell membrane;Lamellipodium NA 0 PE1 -NX_Q8WWN9 48993 437 7.17 6 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8WWP7 34369 306 9.11 7 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum;Golgi apparatus NA 1 PE1 -NX_Q8WWQ0 206689 1821 9.02 6 Nucleoplasm;Nucleus Developmental delay, intellectual disability, obesity, and dysmorphic features 0 PE1 -NX_Q8WWQ2 66596 592 9.95 10 Extracellular matrix Urofacial syndrome 1 0 PE1 -NX_Q8WWQ8 276988 2551 6 12 Cytosol;Cytoplasm;Cell membrane NA 1 PE1 -NX_Q8WWR8 51572 484 7.97 2 Lysosome lumen;Membrane NA 0 PE1 -NX_Q8WWR9 9188 84 6.53 8 NA NA 0 PE2 -NX_Q8WWT9 66841 602 8.58 20 Cell membrane NA 11 PE1 -NX_Q8WWU5 56141 503 5.08 6 Flagellum;Acrosome;Membrane NA 1 PE1 -NX_Q8WWU7 36212 325 8.61 1 Secreted NA 0 PE1 -NX_Q8WWV3 43590 396 9.22 6 Mitochondrion outer membrane Optic atrophy 10 with or without ataxia, mental retardation, and seizures 0 PE1 -NX_Q8WWV6 57144 532 9.37 1 Cell membrane NA 1 PE1 -NX_Q8WWW0 47090 418 9.31 1 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q8WWW8 65589 586 6.8 X NA NA 0 PE1 -NX_Q8WWX0 36341 329 6.34 4 Cell membrane NA 0 PE2 -NX_Q8WWX8 74036 675 6.33 16 Cytosol;Nucleus;Membrane NA 14 PE1 -NX_Q8WWX9 16232 145 5.39 22 Golgi apparatus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleoplasm;Perinuclear region;Nucleus NA 0 PE1 -NX_Q8WWY3 55456 499 5.63 19 Cajal body;Nucleus;Nucleus speckle Retinitis pigmentosa 11 0 PE1 -NX_Q8WWY6 21616 194 8.52 19 Nucleus NA 0 PE1 -NX_Q8WWY7 12050 111 5.35 20 Secreted NA 0 PE1 -NX_Q8WWY8 50859 451 7.15 3 Membrane;Secreted Hypotrichosis 7;Woolly hair autosomal recessive 2 0 PE1 -NX_Q8WWZ1 16943 152 4.94 2 Secreted NA 0 PE1 -NX_Q8WWZ3 24802 215 5.23 1 Cytosol;Cytoplasm;Nucleus Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant 0 PE1 -NX_Q8WWZ4 175790 1543 6.22 17 Membrane NA 15 PE2 -NX_Q8WWZ7 186508 1642 6.51 17 Nucleus;Late endosome membrane;Lysosome membrane;Golgi apparatus membrane NA 15 PE1 -NX_Q8WWZ8 60022 545 5.34 10 Nucleus envelope NA 0 PE1 -NX_Q8WX39 20285 176 5.72 9 Secreted NA 0 PE2 -NX_Q8WX77 29005 278 8.29 9 Cytoplasmic vesicle;Nucleoplasm;Secreted NA 0 PE1 -NX_Q8WX92 65697 580 5.77 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8WX93 150564 1383 6.67 4 Ruffle;Cytosol;Cell membrane;Axon;Focal adhesion;Lamellipodium;Cytoskeleton;Podosome;Growth cone;Z line Pancreatic cancer 1 0 PE1 -NX_Q8WX94 111807 980 5.87 19 Golgi apparatus Hydatidiform mole, recurrent, 1 0 PE1 -NX_Q8WXA2 14271 126 8.28 11 Secreted NA 0 PE1 -NX_Q8WXA3 70010 606 5.61 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8WXA8 50220 447 5.59 3 Cell membrane NA 4 PE1 -NX_Q8WXA9 59380 508 10.39 5 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q8WXB1 24600 218 5.84 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8WXB4 91812 792 8.16 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8WXC3 10107 89 6.3 16 Cytoplasm NA 0 PE1 -NX_Q8WXC6 6211 57 3.6 2 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8WXD0 86453 754 9.04 13 Cell membrane Cryptorchidism 7 PE1 -NX_Q8WXD2 53005 468 4.94 15 Cytoplasmic vesicle;Secreted;Secretory vesicle membrane;Secretory vesicle lumen NA 0 PE1 -NX_Q8WXD5 18824 167 5.02 2 Nucleoplasm;Cytoplasm;Nucleus;Gem NA 0 PE1 -NX_Q8WXD9 149814 1431 9.21 16 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8WXE0 126783 1202 6.63 17 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8WXE1 85838 791 5.9 3 Nucleus NA 0 PE1 -NX_Q8WXE9 101165 905 5.2 14 Cytosol;Cytoplasm;Nucleolus;Synaptosome;Membrane NA 0 PE1 -NX_Q8WXF0 30512 261 11.69 6 Nucleus NA 0 PE1 -NX_Q8WXF1 58744 523 6.26 13 Nucleus speckle;Nucleolus;Nucleoplasm;Cytoplasm;Nucleus;Nucleus matrix NA 0 PE1 -NX_Q8WXF3 15451 142 5.41 19 Secreted NA 0 PE1 -NX_Q8WXF5 20624 182 5.4 7 NA NA 0 PE2 -NX_Q8WXF7 63544 558 5.82 14 Endoplasmic reticulum membrane;Axon;Golgi apparatus membrane Neuropathy, hereditary sensory, 1D;Spastic paraplegia 3, autosomal dominant 2 PE1 -NX_Q8WXF8 36179 326 9.23 19 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q8WXG1 42170 361 8.53 2 Endoplasmic reticulum membrane;Nucleolus;Golgi apparatus;Lipid droplet;Endoplasmic reticulum;Mitochondrion outer membrane;Mitochondrion inner membrane;Mitochondrion NA 0 PE1 -NX_Q8WXG6 183303 1647 5.72 11 Cytosol;Cytoplasm;Cell membrane;Membrane NA 0 PE1 -NX_Q8WXG8 11620 99 7.73 5 NA NA 0 PE1 -NX_Q8WXG9 693069 6306 4.53 5 Photoreceptor inner segment;Lipid droplet;Cell membrane;Stereocilium membrane Febrile seizures, familial, 4;Usher syndrome 2C 7 PE1 -NX_Q8WXH0 796442 6885 5.26 14 Nucleus membrane;Sarcoplasmic reticulum membrane;Nucleoplasm;Nucleus outer membrane;Cell membrane;Focal adhesion;Mitochondrion;Cytoskeleton;Z line Emery-Dreifuss muscular dystrophy 5, autosomal dominant 1 PE1 -NX_Q8WXH2 81469 748 9.43 16 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Cell membrane Huntington disease-like 2 1 PE1 -NX_Q8WXH4 35367 323 8.39 X NA NA 0 PE1 -NX_Q8WXH5 50623 440 6.63 14 Cytosol;Nucleus NA 0 PE1 -NX_Q8WXH6 31076 277 9.45 X Cell membrane NA 0 PE2 -NX_Q8WXI2 117535 1034 6.34 X Cytoplasm;Golgi apparatus;Cell membrane;Membrane Mental retardation, X-linked, syndromic, Houge type 0 PE1 -NX_Q8WXI3 50894 467 6.55 7 Cytoplasm;Nucleus Glaucoma 1, open angle, F 0 PE1 -NX_Q8WXI4 68492 607 8.66 1 Cytosol;Cytoplasm NA 0 PE1 -NX_Q8WXI7 1519175 14507 5.13 19 Extracellular space;Cell membrane NA 1 PE1 -NX_Q8WXI8 24704 215 8.28 12 Membrane NA 1 PE1 -NX_Q8WXI9 65261 593 9.73 1 Nucleoplasm;Nucleus speckle Mental retardation, autosomal dominant 18 0 PE1 -NX_Q8WXJ9 34282 295 9.05 1 NA NA 0 PE1 -NX_Q8WXK1 65799 588 5.51 7 NA NA 0 PE2 -NX_Q8WXK3 30007 278 6.36 10 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8WXK4 33943 309 5.53 X NA NA 0 PE1 -NX_Q8WXQ3 35482 324 5.84 14 NA NA 0 PE2 -NX_Q8WXQ8 49036 436 6.24 7 Nucleus;Secreted NA 0 PE1 -NX_Q8WXR4 151829 1341 8.4 2 Cytoskeleton;Stereocilium NA 0 PE1 -NX_Q8WXS3 19224 180 5.47 8 Synaptosome;Cytosol;Cytoplasm;Nucleus;Postsynaptic density;Membrane raft NA 0 PE1 -NX_Q8WXS4 20932 190 7.65 2 Cytosol;Nucleolus;Nucleus;Membrane NA 4 PE1 -NX_Q8WXS5 43313 425 9.34 19 Postsynaptic density;Cell membrane NA 5 PE1 -NX_Q8WXS8 133888 1223 6.81 10 Cytosol;Extracellular matrix NA 0 PE1 -NX_Q8WXT5 45892 416 9.74 9 Nucleus NA 0 PE2 -NX_Q8WXU2 48527 420 8.88 15 Cytosol;Cytoplasm;Nucleus;Cell membrane Dyslexia 1;Ciliary dyskinesia, primary, 25 0 PE1 -NX_Q8WXW3 89805 757 5.78 13 Secreted;Cytoplasm;Microtubule organizing center;Centriolar satellite;Nucleus;Centrosome Joubert syndrome 33 0 PE1 -NX_Q8WXX0 461159 4024 5.7 2 Cytosol;Cilium axoneme NA 0 PE1 -NX_Q8WXX5 29910 260 5.58 10 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q8WXX7 138982 1259 9.41 7 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus;Growth cone Mental retardation, autosomal dominant 26 0 PE1 -NX_Q8WY07 67169 619 5.82 X Cell membrane NA 14 PE1 -NX_Q8WY21 129635 1168 7.38 10 Cytosol;Cell membrane;Membrane NA 1 PE1 -NX_Q8WY22 27836 251 9.48 12 Nucleoplasm;Mitochondrion;Mitochondrion outer membrane NA 4 PE1 -NX_Q8WY36 105130 941 8.96 3 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q8WY41 30230 292 8.29 10 Cytosol;Cytoplasm;Perinuclear region;Nucleoplasm Spermatogenic failure 12 0 PE1 -NX_Q8WY50 16680 150 7.02 21 NA NA 0 PE2 -NX_Q8WY54 83952 755 4.93 17 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q8WY64 49910 445 6.9 6 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8WY91 62890 577 9.39 2 Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_Q8WY98 17601 164 8.76 1 Cytoplasmic vesicle;Membrane NA 3 PE1 -NX_Q8WYA0 79746 676 8.9 12 Cytosol;Cilium;Centrosome Short-rib thoracic dysplasia 19 with or without polydactyly 0 PE1 -NX_Q8WYA1 70887 636 7.01 12 Nucleolus;Nucleus NA 0 PE1 -NX_Q8WYA6 65173 563 4.96 20 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8WYB5 231378 2073 5.68 10 Nucleus Genitopatellar syndrome;Ohdo syndrome, SBBYS variant 0 PE1 -NX_Q8WYH8 27751 240 7.53 2 Nucleus NA 0 PE1 -NX_Q8WYJ6 41971 367 5.56 16 Cytoplasm;Cytoskeleton;Midbody;Centrosome NA 0 PE1 -NX_Q8WYK0 62034 555 6.3 5 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q8WYK1 145623 1306 5.86 2 Cytoplasmic vesicle;Nucleolus;Nucleus;Membrane NA 1 PE1 -NX_Q8WYK2 18704 163 9.3 14 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q8WYL5 115511 1049 5.87 12 Cleavage furrow;Nucleoplasm;Cell membrane;Cytosol;Lamellipodium;Cytoskeleton;Midbody NA 0 PE1 -NX_Q8WYN0 45378 398 4.93 X Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q8WYN3 64900 585 4.68 2 Nucleolus;Nucleus NA 0 PE2 -NX_Q8WYP3 100163 895 6.15 20 Cytosol;Cytoplasm;Nucleolus;Golgi apparatus MACS syndrome 0 PE1 -NX_Q8WYP5 252498 2266 6.19 1 Kinetochore;Nucleus membrane;Nucleoplasm;Cytoplasm;Nuclear pore complex;Nucleus envelope;Nucleus matrix;Nucleus NA 0 PE1 -NX_Q8WYQ3 14149 142 7.73 22 Mitochondrion;Cytoplasm;Mitochondrion intermembrane space Myopathy, isolated mitochondrial, autosomal dominant;Spinal muscular atrophy, Jokela type;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 0 PE1 -NX_Q8WYQ4 16487 148 9.03 22 NA NA 0 PE1 -NX_Q8WYQ5 86045 773 5.68 22 Nucleolus;Nucleus NA 0 PE1 -NX_Q8WYQ9 100042 949 8.47 16 Nucleus membrane NA 0 PE1 -NX_Q8WYR1 97348 880 6.3 17 Cytosol;Cytoplasm;Nucleus;Cell membrane;Microtubule organizing center Ataxia-oculomotor apraxia 3 0 PE1 -NX_Q8WYR4 35124 309 4.58 21 Nucleoplasm;Cytoplasm;Cilium Ciliary dyskinesia, primary, 24 0 PE1 -NX_Q8WZ04 32155 291 9.3 11 Cytoplasm;Endoplasmic reticulum;Membrane Deafness, autosomal recessive, 63 1 PE1 -NX_Q8WZ19 36357 329 6.77 16 Nucleus NA 0 PE1 -NX_Q8WZ26 14832 134 8.26 19 NA NA 0 PE2 -NX_Q8WZ33 13947 124 7.7 4 Cytoplasm;Nucleolus NA 0 PE1 -NX_Q8WZ42 3816030 34350 6.02 2 Cytoplasm;Nucleus Limb-girdle muscular dystrophy 2J;Salih myopathy;Cardiomyopathy, familial hypertrophic 9;Tardive tibial muscular dystrophy;Hereditary myopathy with early respiratory failure;Cardiomyopathy, dilated 1G 0 PE1 -NX_Q8WZ55 35197 320 4.24 1 Cytoplasm;Cell membrane Bartter syndrome 4A, neonatal, with sensorineural deafness 2 PE1 -NX_Q8WZ59 19457 177 5.15 19 Membrane NA 1 PE1 -NX_Q8WZ60 70359 621 5.89 3 NA NA 0 PE1 -NX_Q8WZ64 193452 1704 7.11 4 Cytoplasm;Cytoskeleton;Focal adhesion NA 0 PE1 -NX_Q8WZ69 24620 217 7.61 11 NA NA 0 PE2 -NX_Q8WZ71 30404 300 8.74 3 Membrane NA 2 PE1 -NX_Q8WZ73 40514 363 5.33 17 Cytosol;Cytoplasmic vesicle;Recycling endosome membrane;Cell membrane NA 0 PE1 -NX_Q8WZ74 181051 1663 8.23 7 Cytosol;Midbody ring;Cell cortex;Dendritic spine NA 0 PE1 -NX_Q8WZ75 107457 1007 6.18 11 Cell membrane NA 0 PE1 -NX_Q8WZ79 41713 361 9.4 1 Lysosome NA 0 PE2 -NX_Q8WZ82 24418 227 6.44 17 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8WZ84 34445 308 8.7 11 Cell membrane NA 7 PE2 -NX_Q8WZ92 35786 322 8.01 11 Cell membrane NA 7 PE2 -NX_Q8WZ94 34296 311 8.67 11 Cell membrane NA 7 PE2 -NX_Q8WZA0 21495 190 4.88 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8WZA1 75252 660 6.37 1 Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy limb-girdle C3;Retinitis pigmentosa 76;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 1 PE1 -NX_Q8WZA2 115522 1011 6.37 2 Cytoplasm;Focal adhesion;Membrane NA 0 PE1 -NX_Q8WZA6 38518 343 8.85 17 Cell membrane NA 7 PE3 -NX_Q8WZA8 3819 35 7.96 11 NA NA 0 PE5 -NX_Q8WZA9 62717 623 4.81 19 Cytoplasmic vesicle NA 0 PE1 -NX_Q8WZB0 14715 136 11.93 9 NA NA 0 PE5 -NX_Q902F8 79168 699 9.26 8 Virion;Cell membrane NA 1 PE1 -NX_Q902F9 79195 699 9.06 19 Virion;Cell membrane NA 1 PE1 -NX_Q92185 40519 356 9.41 12 Golgi apparatus membrane NA 1 PE1 -NX_Q92186 42430 375 9.48 15 Golgi apparatus membrane;Microtubule organizing center NA 1 PE2 -NX_Q92187 41295 359 9.77 5 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q92466 47864 427 9.56 11 Nucleoplasm;Nucleus;Cell junction Xeroderma pigmentosum complementation group E 0 PE1 -NX_Q92478 17307 149 9.02 12 Membrane NA 1 PE1 -NX_Q92481 50474 460 8.41 6 Nucleoplasm;Nucleus Char syndrome;Patent ductus arteriosus 2 0 PE1 -NX_Q92482 31544 292 6.74 9 Basolateral cell membrane;Nucleus;Cell membrane NA 6 PE1 -NX_Q92484 51260 453 5.88 6 Mitochondrion;Nucleolus;Nucleus;Secreted NA 0 PE1 -NX_Q92485 50814 455 5.36 1 Cytosol;Golgi apparatus;Cell membrane;Secreted NA 0 PE1 -NX_Q92496 65351 578 4.85 1 Secreted NA 0 PE1 -NX_Q92499 82432 740 6.8 2 Nucleoplasm;Cytosol;Cytoplasm;Cytoplasmic granule;Nucleus;Mitochondrion NA 0 PE1 -NX_Q92502 112601 1023 5.87 X Focal adhesion NA 0 PE1 -NX_Q92503 81250 715 6.01 17 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q92504 50118 469 6.36 6 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum NA 6 PE1 -NX_Q92506 26974 261 6.09 6 Mitochondrion matrix NA 0 PE1 -NX_Q92508 286790 2521 7.37 16 Endoplasmic reticulum membrane;Lamellipodium membrane;Cell membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane Lymphedema, hereditary, 3;Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 36 PE1 -NX_Q92519 38801 343 5.77 2 Cytosol;Cytoplasm;Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q92520 24680 227 8.52 7 Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 -NX_Q92521 65056 554 9.39 15 Endoplasmic reticulum membrane;Cytosol;Cell membrane NA 9 PE1 -NX_Q92522 22487 213 10.76 3 Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_Q92523 87801 772 8.86 22 Mitochondrion outer membrane NA 2 PE1 -NX_Q92526 57821 530 6.85 17 Cytoplasm NA 0 PE1 -NX_Q92527 29029 254 9.09 7 Nucleus NA 0 PE1 -NX_Q92529 64056 594 8.57 9 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q92530 29817 271 5.42 20 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_Q92535 33583 297 8.66 1 Endoplasmic reticulum membrane Glycosylphosphatidylinositol biosynthesis defect 16 8 PE1 -NX_Q92536 56828 515 5.63 16 Cytoplasmic vesicle;Basolateral cell membrane;Cell membrane NA 12 PE1 -NX_Q92537 32090 303 5.01 14 Nucleoplasm;Cytoskeleton;Membrane NA 1 PE1 -NX_Q92538 206446 1859 5.48 10 Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus;Cytoplasm;Lipid droplet;cis-Golgi network;trans-Golgi network;Membrane NA 0 PE1 -NX_Q92539 99399 896 5.18 18 Cytosol;Endoplasmic reticulum membrane;Cytoskeleton;Nucleus;Cell membrane Majeed syndrome 0 PE1 -NX_Q92540 127282 1137 8.87 1 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q92541 80313 710 8.21 15 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q92542 78411 709 5.67 1 Cytosol;Cytoplasmic vesicle membrane;Melanosome;Membrane Acne inversa, familial, 1 1 PE1 -NX_Q92543 108598 992 4.97 11 Mitochondrion;Cytoplasmic vesicle membrane;Early endosome membrane NA 0 PE1 -NX_Q92544 74519 642 6.11 20 Mitochondrion;Membrane;Golgi apparatus;Early endosome NA 9 PE1 -NX_Q92545 205138 1883 8.74 2 Cytoplasmic vesicle;Cytoskeleton;Membrane NA 2 PE1 -NX_Q92546 42455 391 5.65 9 Cytosol;Cell membrane;Membrane NA 0 PE1 -NX_Q92547 170679 1522 6.52 3 Nucleus;Centrosome;Chromosome;Spindle pole NA 0 PE1 -NX_Q92551 50236 441 6.81 3 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q92552 47611 414 5.83 5 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q92556 83829 727 5.89 7 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q92558 61652 559 6.01 6 Cytoskeleton;Synapse;Focal adhesion NA 0 PE1 -NX_Q92560 80362 729 6.38 3 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Tumor predisposition syndrome;Mesothelioma, malignant 0 PE1 -NX_Q92561 37573 330 6.53 8 Mitochondrion NA 0 PE1 -NX_Q92562 103635 907 6.46 6 Cytoplasmic vesicle;Endosome membrane;Lipid droplet Charcot-Marie-Tooth disease 4J;Amyotrophic lateral sclerosis 11;Yunis-Varon syndrome;Polymicrogyria, bilateral temporooccipital 0 PE1 -NX_Q92563 46779 424 4.71 10 Nucleus speckle;Extracellular matrix NA 0 PE1 -NX_Q92564 34068 292 5.58 4 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q92565 67733 580 5.89 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q92567 26184 244 9.01 11 Nucleoplasm NA 0 PE1 -NX_Q92569 54448 461 5.68 1 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q92570 68230 626 8 9 Nucleus Ewing sarcoma 0 PE1 -NX_Q92572 21732 193 5.23 5 Cytoplasmic vesicle membrane;Golgi apparatus NA 0 PE1 -NX_Q92574 129767 1164 6.02 9 Cytosol;Cytoplasm;Membrane Focal cortical dysplasia 2;Tuberous sclerosis 1;Lymphangioleiomyomatosis 0 PE1 -NX_Q92575 56778 508 6.1 2 Endoplasmic reticulum membrane;Nucleus envelope;Endoplasmic reticulum NA 0 PE1 -NX_Q92576 229481 2039 6.52 6 Nucleoplasm NA 0 PE1 -NX_Q92581 74162 669 6.03 X Endosome membrane;Cytoplasmic vesicle Mental retardation, X-linked, syndromic, Christianson type 13 PE1 -NX_Q92583 10507 94 9.59 16 Secreted NA 0 PE1 -NX_Q92585 108054 1016 8.45 5 Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_Q92597 42835 394 5.49 8 Cytosol;Cytoskeleton;Nucleus;Centrosome;Cell membrane Charcot-Marie-Tooth disease 4D 0 PE1 -NX_Q92598 96865 858 5.28 13 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q92599 55756 483 5.89 5 Axon;Cytoplasm;Cytoskeleton;Synaptic vesicle membrane;Synapse NA 0 PE1 -NX_Q92600 33631 299 8.18 2 P-body;Nucleus NA 0 PE1 -NX_Q92604 43089 370 9.02 1 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q92608 211948 1830 6.43 5 Cytoskeleton;Endomembrane system Immunodeficiency 40 0 PE1 -NX_Q92609 89004 795 6.1 3 Endosome membrane;Cytoplasmic vesicle;Autophagosome;Golgi apparatus NA 0 PE1 -NX_Q92610 137528 1267 8.1 15 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q92611 73768 657 6.45 3 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q92613 93808 823 6.79 X Nucleolus;Nucleus NA 0 PE1 -NX_Q92614 233115 2054 5.95 17 Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus;Cytoplasm;trans-Golgi network;Cell surface;Cytoskeleton NA 0 PE1 -NX_Q92615 80552 738 6.48 10 Cytosol NA 0 PE1 -NX_Q92616 292758 2671 7.29 12 Cytosol;Cytoplasm NA 0 PE1 -NX_Q92617 116847 1050 10.04 16 Membrane NA 1 PE2 -NX_Q92618 124289 1163 9.02 18 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q92619 124614 1136 5.76 19 Cytoplasm;Ruffle membrane NA 0 PE1 -NX_Q92620 140503 1227 6.11 16 Nucleus NA 0 PE1 -NX_Q92621 227922 2012 5.81 7 Nuclear pore complex;Nucleus membrane Nephrotic syndrome 13 0 PE1 -NX_Q92622 108622 972 5.86 3 Cytoplasmic vesicle;Cytosol;Late endosome;Lysosome;Early endosome Spinocerebellar ataxia, autosomal recessive, 15 0 PE1 -NX_Q92623 24379 222 9.13 14 NA NA 0 PE1 -NX_Q92624 66853 585 6.44 17 Cytoskeleton;Nucleus;Membrane NA 0 PE1 -NX_Q92625 123108 1134 5.93 6 Cytosol;Nucleoplasm;Cell projection;Cytoplasm NA 0 PE1 -NX_Q92626 165275 1479 6.79 2 Extracellular matrix Anterior segment dysgenesis 7 0 PE1 -NX_Q92628 154789 1395 4.71 4 Cytosol NA 0 PE1 -NX_Q92629 32071 289 9.24 5 Cytoskeleton;Sarcolemma Limb-girdle muscular dystrophy 2F;Cardiomyopathy, dilated 1L 1 PE1 -NX_Q92630 66652 601 9.7 12 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q92633 41109 364 8.87 9 Nucleus speckle;Endosome;Cell membrane;Cell surface NA 7 PE1 -NX_Q92636 104372 917 5.8 8 Nucleolus NA 0 PE1 -NX_Q92637 32232 280 8.87 1 Cell membrane NA 1 PE1 -NX_Q92643 45252 395 5.76 1 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q92664 41515 365 9.34 13 Nucleus NA 0 PE1 -NX_Q92665 45318 395 9.32 13 Mitochondrion;Nucleolus NA 0 PE1 -NX_Q92667 97342 903 4.84 17 Mitochondrion;Mitochondrion outer membrane NA 0 PE1 -NX_Q92670 49753 426 9.07 11 Nucleus NA 0 PE5 -NX_Q92673 248426 2214 5.32 11 Endosome;Golgi apparatus;Secreted;Nucleoplasm;Membrane;Cell junction Alzheimer disease 1 PE1 -NX_Q92674 86720 756 8.98 X Cytosol;Nucleus;Centromere NA 0 PE1 -NX_Q92681 66790 617 4.78 1 Nucleoplasm;Nucleus;trans-Golgi network;Cell membrane;Cell junction NA 0 PE1 -NX_Q92685 50126 438 9.56 3 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1D 11 PE1 -NX_Q92686 7618 78 7.72 11 NA NA 0 PE1 -NX_Q92688 28788 251 3.94 9 Cytoplasm;Nucleus NA 0 PE1 -NX_Q92692 57742 538 4.74 19 Nucleolus;Cell junction;Cell membrane NA 1 PE1 -NX_Q92696 65072 567 5.45 14 Nucleoplasm NA 0 PE1 -NX_Q92698 84352 747 8.85 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q92729 162423 1446 6.46 1 Cell junction;Cell membrane NA 1 PE1 -NX_Q92730 26056 232 8.24 12 Cytoplasmic vesicle;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q92731 59216 530 8.81 14 Nucleus NA 0 PE1 -NX_Q92733 52418 491 5.02 1 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q92734 43448 400 4.94 3 Cytosol;Cytoplasmic vesicle;Endoplasmic reticulum Spastic paraplegia 57, autosomal recessive;Neuropathy, hereditary motor and sensory, Okinawa type 0 PE1 -NX_Q92736 564567 4967 5.73 1 Sarcoplasmic reticulum membrane;Cytosol;Cell membrane;Nucleoplasm;Sarcoplasmic reticulum;Membrane Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy;Arrhythmogenic right ventricular dysplasia, familial, 2 6 PE1 -NX_Q92737 22541 203 9.79 22 Nucleolus;Cell membrane NA 0 PE1 -NX_Q92738 94104 828 9.1 10 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q92743 51287 480 8.09 10 Cytosol;Cell membrane;Secreted Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2;Macular degeneration, age-related, 7;Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 0 PE1 -NX_Q92747 41569 370 8.46 7 Cytosol;Cytoskeleton;Nucleus;Cell junction;Cell membrane NA 0 PE1 -NX_Q92748 16561 146 4.79 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q92750 91091 862 9.59 18 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Spermatogenic failure 13 0 PE1 -NX_Q92752 149562 1358 4.71 1 Extracellular matrix NA 0 PE1 -NX_Q92753 53220 470 7.78 9 Nucleus NA 0 PE1 -NX_Q92754 49177 450 7.72 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q92759 52186 462 9.12 6 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q92764 50361 455 4.85 17 NA NA 0 PE1 -NX_Q92765 36254 325 8.82 2 Secreted Osteoarthritis 1 0 PE1 -NX_Q92766 181420 1687 6.54 6 Nucleus speckle;Nucleolus NA 0 PE1 -NX_Q92769 55364 488 5.59 6 Cytoplasm;Nucleus NA 0 PE1 -NX_Q92771 106006 950 8.57 12 Nucleus NA 0 PE5 -NX_Q92772 56019 493 8.45 4 Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q92777 62996 582 8.58 3 Nucleoplasm;Synapse Schizophrenia 0 PE1 -NX_Q92781 34979 318 9.47 12 Cytoplasmic vesicle;Endoplasmic reticulum lumen;Membrane Fundus albipunctatus 0 PE1 -NX_Q92782 42502 380 6.47 19 Cytosol;Mitochondrion;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q92783 59180 540 4.7 10 Cytoplasmic vesicle;Cytoplasm;Early endosome membrane NA 0 PE1 -NX_Q92784 43084 378 6.01 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q92785 44155 391 5.94 11 Nucleoplasm;Cytoplasm;Nucleus Coffin-Siris syndrome 7 0 PE1 -NX_Q92786 83203 737 6.74 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q92791 50381 437 4.68 17 Endoplasmic reticulum NA 0 PE1 -NX_Q92793 265351 2442 8.83 16 Nucleoplasm;Cytoplasm;Nucleus Rubinstein-Taybi syndrome 1 0 PE1 -NX_Q92794 225028 2004 5.5 8 PML body;Nucleolus;Nucleus speckle;Nucleoplasm;Cytosol;Nucleus Mental retardation, autosomal dominant 32 0 PE1 -NX_Q92796 90314 817 6.56 X Nucleolus;Nucleus Mental retardation, X-linked 90 0 PE1 -NX_Q92797 141148 1274 5.82 19 Cytosol;Cell membrane;Nucleoplasm;Cytoskeleton;Cell junction;Tight junction NA 0 PE1 -NX_Q92800 85271 747 8.01 17 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q92802 67459 583 5.96 13 Nucleoplasm NA 0 PE1 -NX_Q92804 61830 592 8.04 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q92805 88184 767 5.24 9 Golgi apparatus membrane;trans-Golgi network membrane;Acrosome;Golgi apparatus NA 0 PE1 -NX_Q92806 44020 393 4.86 1 Membrane NA 2 PE1 -NX_Q92813 30552 273 8.18 14 Cytosol;Nucleoplasm;Membrane NA 1 PE1 -NX_Q92817 231604 2033 6.56 17 Cytosol;Desmosome;Cytoskeleton;Cornified envelope NA 0 PE1 -NX_Q92819 63566 552 8.85 8 Nucleus speckle;Membrane NA 7 PE1 -NX_Q92820 35964 318 6.66 8 Extracellular space;Melanosome;Lysosome NA 0 PE1 -NX_Q92823 143890 1304 5.45 7 Axon;Cell membrane;Secreted NA 1 PE1 -NX_Q92824 206942 1860 5.71 9 Endomembrane system;Golgi apparatus;Secreted NA 1 PE1 -NX_Q92826 30676 284 9.15 17 Nucleoplasm;Nucleus Prostate cancer 0 PE1 -NX_Q92828 59763 525 8.24 9 Cytosol;Cell membrane NA 0 PE1 -NX_Q92830 93926 837 9.18 17 Nucleus;Centrosome;Chromosome NA 0 PE1 -NX_Q92831 93013 832 9.16 3 Nucleus;Centrosome NA 0 PE1 -NX_Q92832 89635 810 5.66 11 Cytoplasm;Nucleus envelope;Secreted NA 0 PE1 -NX_Q92833 138734 1246 9.46 6 Mitochondrion;Nucleus NA 0 PE1 -NX_Q92834 113387 1020 4.79 X Cilium axoneme;Flagellum axoneme;Centrosome;Golgi apparatus;Cilium basal body Retinitis pigmentosa and sinorespiratory infections with or without deafness;Retinitis pigmentosa 3;Cone-rod dystrophy, X-linked 1;Macular degeneration, X-linked, atrophic 0 PE1 -NX_Q92835 133292 1189 7.38 2 Cytosol;Cytoplasm;Cell membrane;Membrane;Cytoskeleton;Membrane raft NA 0 PE1 -NX_Q92837 29093 279 7.65 10 Cytoplasmic vesicle;Cytoplasm;Cytosol NA 0 PE1 -NX_Q92838 41294 391 8.54 X Cytoplasmic vesicle;Lipid droplet;Cell membrane;Secreted Tooth agenesis, selective, X-linked, 1;Ectodermal dysplasia 1, hypohidrotic, X-linked 1 PE1 -NX_Q92839 64832 578 9.35 19 Nucleoplasm;Cell membrane;Membrane NA 7 PE1 -NX_Q92841 80272 729 8.53 22 Cytosol;Nucleus speckle;Nucleolus;Nucleus NA 0 PE1 -NX_Q92843 20746 193 5.21 14 Mitochondrion membrane NA 0 PE1 -NX_Q92844 47816 425 5.46 2 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q92845 91205 792 4.96 1 NA NA 0 PE1 -NX_Q92847 41329 366 8.65 3 Cell membrane Growth hormone deficiency, isolated partial 7 PE1 -NX_Q92851 58951 521 6.95 2 Cytoplasmic vesicle;Golgi apparatus Gastric cancer;Familial non-Hodgkin lymphoma;Autoimmune lymphoproliferative syndrome 2A 0 PE1 -NX_Q92854 96150 862 8.25 9 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane NA 1 PE1 -NX_Q92858 38160 354 8.26 4 Nucleus NA 0 PE2 -NX_Q92859 160017 1461 6.08 15 Nucleoplasm;Cell membrane;Golgi apparatus NA 1 PE1 -NX_Q92870 83374 758 5.74 4 Mitochondrion NA 0 PE1 -NX_Q92871 29747 262 5.53 22 Cytoplasm NA 0 PE1 -NX_Q92874 32853 299 4.8 16 Mitochondrion;Cytoplasm;Endoplasmic reticulum;Secreted NA 0 PE1 -NX_Q92876 26856 244 7.15 19 Nucleolus;Nucleus membrane;Secreted;Nucleoplasm;Cytoplasm;Microsome;Mitochondrion;Cytoskeleton NA 0 PE1 -NX_Q92878 153892 1312 6.47 5 Nucleoplasm;Nucleus;Chromosome;Telomere Nijmegen breakage syndrome-like disorder 0 PE1 -NX_Q92879 52063 486 8.7 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q92882 23787 214 5.46 9 Cytosol;Cytoplasm NA 0 PE1 -NX_Q92886 25718 237 6.9 5 Nucleus NA 0 PE1 -NX_Q92887 174207 1545 8.57 10 Apical cell membrane Dubin-Johnson syndrome 17 PE1 -NX_Q92888 102435 912 5.47 19 Cytosol;Cytoplasm;Cell membrane;Membrane NA 0 PE1 -NX_Q92889 104486 916 6.5 16 Nucleoplasm;Nucleus Fanconi anemia complementation group Q;XFE progeroid syndrome;Xeroderma pigmentosum complementation group F;Xeroderma pigmentosum type F/Cockayne syndrome 0 PE1 -NX_Q92890 34500 307 6.27 22 Cytosol;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q92896 134552 1179 6.52 16 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q92900 124345 1129 6.18 19 Nucleoplasm;Cytoplasm;P-body;Nucleus NA 0 PE1 -NX_Q92901 46296 407 10.45 16 Nucleus speckle NA 0 PE1 -NX_Q92902 79292 700 5.62 10 NA Hermansky-Pudlak syndrome 1 0 PE1 -NX_Q92903 53304 461 8.29 4 Endoplasmic reticulum membrane;Nucleus;Nucleus membrane NA 6 PE1 -NX_Q92904 33178 295 8.92 3 Cytoplasm;Nucleus NA 0 PE1 -NX_Q92905 37579 334 6.1 8 Nucleoplasm;Cytosol;Perinuclear region;Nucleus;Synaptic vesicle NA 0 PE1 -NX_Q92908 60033 595 8.68 18 Nucleus Conotruncal heart malformations;Tetralogy of Fallot;Atrial septal defect 9;Pancreatic agenesis and congenital heart defects;Atrioventricular septal defect 5 0 PE1 -NX_Q92911 68666 643 7.37 19 Membrane Thyroid dyshormonogenesis 1 13 PE1 -NX_Q92913 27564 245 9.92 X Nucleolus;Cytosol;Cytoplasm;Dendrite;Nucleus;Filopodium;Growth cone NA 0 PE1 -NX_Q92914 25005 225 9.92 17 Centrosome NA 0 PE2 -NX_Q92915 27702 247 10.11 13 Nucleolus;Nucleus Spinocerebellar ataxia 27 0 PE1 -NX_Q92917 52229 476 5.85 X Nucleoplasm;Nucleus NA 0 PE1 -NX_Q92918 91296 833 8.65 19 Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q92922 122867 1105 5.51 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q92925 58921 531 9.66 17 Nucleoplasm;Nucleus Specific granule deficiency 2 0 PE1 -NX_Q92928 22017 201 5.25 9 Cytoplasm;Membrane NA 0 PE5 -NX_Q92930 23584 207 9.15 15 Nucleoplasm;Cytoplasmic vesicle;Phagosome membrane;Phagosome;Cell membrane NA 0 PE1 -NX_Q92932 111271 1015 5.55 7 Cytoplasmic vesicle;Synaptic vesicle membrane;Secretory vesicle membrane NA 1 PE1 -NX_Q92934 18392 168 6.6 11 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA 0 PE1 -NX_Q92935 74697 676 8.51 1 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q92945 73115 711 6.85 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q92947 48127 438 8.31 19 Mitochondrion;Mitochondrion matrix Glutaric aciduria 1 0 PE1 -NX_Q92949 45247 421 5.04 17 Nucleus Allergic rhinitis 0 PE1 -NX_Q92952 59987 543 9.04 19 Cytosol;Cytoskeleton;Membrane NA 6 PE2 -NX_Q92953 102563 911 5.81 8 Dendrite;Nucleolus;Perikaryon;Midbody;Cell membrane NA 6 PE1 -NX_Q92954 151061 1404 9.54 1 Secreted Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 0 PE1 -NX_Q92956 30392 283 6.93 1 Cytosol;Cytoplasm;Membrane NA 1 PE1 -NX_Q92959 70044 643 9.13 3 Cell membrane Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 12 PE1 -NX_Q92963 25145 219 9.2 1 Cell membrane Noonan syndrome 8 0 PE1 -NX_Q92966 46753 411 5.12 9 Nucleolus;Nucleus NA 0 PE1 -NX_Q92968 44130 403 7.77 2 Cytoplasmic vesicle;Peroxisome membrane Peroxisome biogenesis disorder 11A;Peroxisome biogenesis disorder complementation group 13;Peroxisome biogenesis disorder 11B 1 PE1 -NX_Q92973 102355 898 4.83 5 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q92974 111543 986 6.89 1 Golgi apparatus;Cytoplasm;Cytoplasmic vesicle;Ruffle membrane;Cytoskeleton;Spindle;Tight junction Neurodevelopmental disorder with midbrain and hindbrain malformations 0 PE1 -NX_Q92979 26720 244 9.28 12 Nucleolus;Nucleus Bowen-Conradi syndrome 0 PE1 -NX_Q92982 16345 152 5.83 9 Membrane NA 2 PE1 -NX_Q92985 54278 503 5.89 11 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Immunodeficiency 39 0 PE1 -NX_Q92988 26263 240 9.25 17 Nucleoplasm;Nucleus Non-syndromic orofacial cleft 15 0 PE1 -NX_Q92989 47646 425 6.2 11 Nucleoplasm;Nucleus Pontocerebellar hypoplasia 10 0 PE1 -NX_Q92990 68208 594 5.24 1 Nucleoplasm;Cytosol Glomuvenous malformations 0 PE1 -NX_Q92993 58582 513 8.75 11 Nucleoplasm;Perinuclear region;Nucleolus;Nucleus NA 0 PE1 -NX_Q92994 73840 677 5.29 14 Nucleoplasm;Nucleus Cerebellofaciodental syndrome 0 PE1 -NX_Q92995 97327 863 5.33 3 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q92997 78055 716 6.18 3 Cytoplasm;Cytoskeleton;Midbody ring;Centrosome Robinow syndrome, autosomal dominant 3 0 PE1 -NX_Q93008 292280 2570 5.52 X Cytoplasmic vesicle;Cytoplasm;Growth cone Mental retardation, X-linked 99 0 PE1 -NX_Q93009 128302 1102 5.33 16 PML body;Nucleus;Chromosome;Cytoplasm NA 0 PE1 -NX_Q93015 31445 286 7.75 3 Cytosol NA 0 PE1 -NX_Q93033 115109 1021 6.51 1 Mitochondrion;Membrane NA 1 PE1 -NX_Q93034 90955 780 8.08 11 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q93038 45385 417 6.01 1 Cytoskeleton;Nucleus;Focal adhesion;Cell membrane;Secreted NA 1 PE1 -NX_Q93045 20828 179 8.4 8 Cytoplasmic vesicle;Endosome;Golgi apparatus;Cytoplasm;Endoplasmic reticulum;Axon;Perinuclear region;Membrane;Lamellipodium;Growth cone NA 0 PE1 -NX_Q93050 96413 837 6.02 17 Nucleus speckle;Melanosome;Golgi apparatus;Cytosol;Cell membrane;Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA 8 PE1 -NX_Q93052 65746 612 7.18 3 Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Nucleus;Cell junction NA 0 PE1 -NX_Q93062 21802 196 7.77 8 Nucleoplasm;Cytoplasm;P-body;Nucleus;Cytosol NA 0 PE1 -NX_Q93063 82255 718 6.12 11 Endoplasmic reticulum membrane;Golgi apparatus membrane;Golgi apparatus Potocki-Shaffer syndrome;Seizures, scoliosis, and macrocephaly syndrome;Hereditary multiple exostoses 2 1 PE1 -NX_Q93070 35878 314 9.31 12 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q93073 121776 1101 5.76 15 Nucleoplasm NA 0 PE1 -NX_Q93074 243081 2177 6.63 X Nucleoplasm;Nucleus Lujan-Fryns syndrome;Opitz-Kaveggia syndrome;Ohdo syndrome, X-linked 0 PE1 -NX_Q93075 85023 761 7.07 3 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q93077 14105 130 11.05 6 Nucleus;Chromosome NA 0 PE1 -NX_Q93079 13892 126 10.31 6 Nucleus;Chromosome NA 0 PE1 -NX_Q93083 6062 61 8.38 16 NA NA 0 PE1 -NX_Q93084 113977 1043 5.42 17 Endoplasmic reticulum membrane;Nucleus membrane;Sarcoplasmic reticulum membrane NA 10 PE1 -NX_Q93086 47205 422 7.46 17 Cytosol;Membrane NA 2 PE1 -NX_Q93088 44998 406 6.58 5 Cytosol;Cytoplasm NA 0 PE1 -NX_Q93091 17196 150 9.09 14 Cytoplasmic granule;Lysosome;Secreted NA 0 PE1 -NX_Q93096 19815 173 9.17 6 Cytoplasm;Spindle;Cell membrane;Endoplasmic reticulum;Early endosome NA 0 PE1 -NX_Q93097 43770 391 9.32 1 Nucleoplasm;Cytoplasmic vesicle;Secreted;Extracellular matrix NA 0 PE1 -NX_Q93098 38721 351 8.93 10 Extracellular matrix NA 0 PE2 -NX_Q93099 49964 445 6.5 3 Golgi apparatus Alkaptonuria 0 PE1 -NX_Q93100 124884 1093 6.5 16 Cell membrane;Golgi apparatus Glycogen storage disease 9B 0 PE1 -NX_Q95365 40416 362 5.89 6 Membrane NA 1 PE1 -NX_Q95460 39366 341 5.87 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cell membrane;Secreted NA 1 PE1 -NX_Q95604 41238 372 6.33 6 Membrane NA 1 PE1 -NX_Q95IE3 29878 266 7.69 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 -NX_Q969D9 18141 159 9.75 5 Secreted NA 0 PE1 -NX_Q969E1 8814 77 10.31 5 Secreted NA 0 PE1 -NX_Q969E2 25728 229 9.07 19 Cytoplasmic vesicle;Lipid droplet;Cell membrane;Golgi apparatus;Membrane NA 4 PE1 -NX_Q969E3 17961 161 10.41 10 Secreted NA 0 PE1 -NX_Q969E4 22502 200 4.85 X Nucleus NA 0 PE1 -NX_Q969E8 20894 191 4.25 X Cytosol;Nucleolus;Nucleus;Cell junction Diamond-Blackfan anemia 14, with mandibulofacial dysostosis 0 PE1 -NX_Q969F0 20712 183 9.51 X Mitochondrion;Endoplasmic reticulum membrane;Endoplasmic reticulum;Mitochondrion outer membrane NA 1 PE1 -NX_Q969F1 24049 213 4.13 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q969F2 50055 451 7.83 5 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q969F8 42586 398 9.93 19 Cytoplasmic vesicle;Cell membrane Precocious puberty, central 1;Hypogonadotropic hypogonadism 8 with or without anosmia 7 PE1 -NX_Q969F9 113736 1004 6.01 3 Cytosol;Cytoplasm;Cell membrane;Golgi apparatus Hermansky-Pudlak syndrome 3 0 PE1 -NX_Q969G2 43124 390 7.52 1 Nucleus speckle;Nucleus Pituitary hormone deficiency, combined, 4 0 PE1 -NX_Q969G3 46649 411 4.85 17 Nucleoplasm;Nucleus Meningioma;Coffin-Siris syndrome 5 0 PE1 -NX_Q969G5 27701 261 6.05 11 Caveola;Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q969G6 17623 155 7.85 9 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q969G9 52285 470 8.82 16 Cytoplasm;Nucleolus;Cell membrane NA 0 PE1 -NX_Q969H0 79663 707 5.5 4 Cytoplasmic vesicle;Nucleoplasm;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q969H4 79706 720 5.22 1 Cytosol;Cytoplasm;Membrane NA 0 PE1 -NX_Q969H6 18820 163 6.89 12 Nucleolus;Nucleus NA 0 PE1 -NX_Q969H8 18795 173 6.2 19 Endoplasmic reticulum-Golgi intermediate compartment;Secreted NA 0 PE1 -NX_Q969H9 11440 104 8.68 2 Nucleoplasm NA 0 PE2 -NX_Q969I3 35101 302 6.41 11 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q969I6 60764 547 6.02 12 Cell membrane NA 10 PE1 -NX_Q969J2 61579 545 7.56 6 Nucleus NA 0 PE1 -NX_Q969J3 22222 196 5.97 12 Cytosol;Lysosome membrane NA 0 PE1 -NX_Q969J5 30550 263 8.31 6 Secreted NA 0 PE1 -NX_Q969K3 41641 372 4.83 12 Nucleus speckle;Nucleoplasm;Cell membrane;Endomembrane system;Cytosol;Nucleus NA 0 PE1 -NX_Q969K4 53979 478 5.15 3 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q969K7 23772 222 8.06 1 Cytoplasmic vesicle;Membrane NA 4 PE1 -NX_Q969L2 19125 176 5.76 8 Perinuclear region;Apical cell membrane;Cell membrane;Endomembrane system NA 4 PE1 -NX_Q969L4 14080 123 9.3 1 Nucleus NA 0 PE1 -NX_Q969M1 33917 308 6.73 1 Cytoplasm;Nucleus;Mitochondrion outer membrane NA 0 PE1 -NX_Q969M2 61872 543 7.89 6 Gap junction;Cell membrane NA 4 PE2 -NX_Q969M3 27989 257 4.18 5 Endoplasmic reticulum membrane;Golgi apparatus;Nucleoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;cis-Golgi network membrane;COPII-coated vesicle NA 5 PE1 -NX_Q969M7 21077 185 6.31 2 Cytosol NA 0 PE1 -NX_Q969N2 65700 578 8.64 20 Endoplasmic reticulum membrane Multiple congenital anomalies-hypotonia-seizures syndrome 3;Paroxysmal nocturnal hemoglobinuria 2 1 PE1 -NX_Q969N4 38029 342 6.42 6 Cell membrane NA 7 PE2 -NX_Q969P0 65034 613 8.23 1 Cell membrane NA 1 PE1 -NX_Q969P5 41637 355 9.45 8 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q969P6 69872 601 9.46 8 Mitochondrion NA 0 PE1 -NX_Q969Q0 12469 106 10.67 14 Cytoplasm NA 0 PE1 -NX_Q969Q1 40248 353 4.85 1 Cytoplasm;M line;Nucleus;Z line NA 0 PE1 -NX_Q969Q4 21391 196 5.96 13 NA Leukemia, chronic lymphocytic 0 PE1 -NX_Q969Q5 23124 203 5.85 5 Cytosol;Focal adhesion;Membrane NA 0 PE1 -NX_Q969Q6 53316 453 5.07 14 Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q969R2 101266 916 6.1 22 Cytosol;Membrane NA 0 PE1 -NX_Q969R5 79110 705 6.4 22 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q969R8 49313 447 5.06 12 Nucleoplasm;Cytoskeleton;Lysosome membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q969S0 37424 331 9.24 7 Golgi apparatus membrane NA 11 PE1 -NX_Q969S2 36826 332 6.32 8 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q969S3 54272 477 5.8 5 Cytosol;Cytoplasm;Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q969S6 15760 136 8.8 9 Endoplasmic reticulum membrane NA 4 PE1 -NX_Q969S8 71445 669 5.44 22 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q969S9 86601 779 6.08 5 Mitochondrion NA 0 PE1 -NX_Q969T3 41365 373 5.11 20 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Early endosome membrane;Microtubule organizing center NA 0 PE1 -NX_Q969T4 22913 207 6.73 2 Cytoplasm;Nucleus NA 0 PE1 -NX_Q969T7 34389 300 5.95 17 Cytoplasm NA 0 PE1 -NX_Q969T9 28087 261 5.65 17 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Deafness, autosomal recessive, 107 0 PE1 -NX_Q969U6 63922 566 5.89 9 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q969U7 29396 264 6.61 18 Nucleus NA 0 PE1 -NX_Q969V1 38849 340 9.09 6 Cell membrane NA 7 PE1 -NX_Q969V3 62974 563 6.4 19 Endoplasmic reticulum membrane;Nucleoplasm;Lipid droplet;Endoplasmic reticulum NA 1 PE1 -NX_Q969V4 48283 418 5.98 17 Flagellum axoneme;Cilium axoneme NA 0 PE1 -NX_Q969V5 39800 352 8.46 1 Mitochondrion;Cytosol;Peroxisome;Nucleoplasm;Mitochondrion outer membrane NA 2 PE1 -NX_Q969V6 98919 931 5.59 22 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q969W0 8466 71 6.7 14 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q969W1 43633 377 9.71 10 Endoplasmic reticulum membrane;Cytosol;Nucleus;Nucleus membrane NA 4 PE1 -NX_Q969W3 19484 186 11.26 17 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q969W8 49219 418 8.36 19 Nucleus NA 0 PE1 -NX_Q969W9 31609 287 6.41 20 Cytoplasmic vesicle;Early endosome membrane;Golgi apparatus membrane NA 1 PE1 -NX_Q969X0 23986 211 4.95 12 Cytosol;Cilium;Centrosome NA 0 PE1 -NX_Q969X1 34607 311 7.6 2 Cytoplasmic vesicle;Endosome membrane;Lysosome membrane;Membrane NA 7 PE1 -NX_Q969X2 38068 333 9.91 9 Golgi apparatus membrane;Nucleus NA 1 PE1 -NX_Q969X5 32592 290 6.59 5 Endoplasmic reticulum membrane;Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Centrosome Arthrogryposis multiplex congenita, neurogenic type 2 PE1 -NX_Q969X6 76890 686 9.03 16 Nucleolus;Chromosome NA 0 PE1 -NX_Q969Y0 63800 559 9.05 3 Nucleoplasm;Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q969Y2 52058 492 6.03 19 Mitochondrion Combined oxidative phosphorylation deficiency 23 0 PE1 -NX_Q969Z0 70738 631 6.98 7 Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_Q969Z3 38023 335 9.32 1 Mitochondrion;Mitochondrion outer membrane;Peroxisome NA 0 PE1 -NX_Q969Z4 46092 430 8.75 11 Cytoplasm;Perinuclear region;Nucleus;Cell membrane NA 1 PE1 -NX_Q96A00 16693 147 9.41 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96A04 13670 125 9.18 1 Nucleus NA 0 PE1 -NX_Q96A05 26074 226 8.79 2 NA NA 0 PE1 -NX_Q96A08 14167 127 10.31 6 Nucleus;Chromosome NA 0 PE1 -NX_Q96A09 46688 425 8.39 1 NA NA 0 PE1 -NX_Q96A11 48956 431 9.96 11 Golgi stack membrane NA 1 PE1 -NX_Q96A19 62596 550 5.49 16 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96A22 13921 123 9.51 11 Cell junction NA 0 PE1 -NX_Q96A23 62395 557 5.92 3 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q96A25 28920 262 6.74 17 Membrane NA 1 PE1 -NX_Q96A26 17342 154 9.81 3 Mitochondrion;Cytosol;Membrane NA 1 PE1 -NX_Q96A28 32436 289 7.58 1 Membrane NA 1 PE2 -NX_Q96A29 39809 364 8.66 11 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2C 8 PE1 -NX_Q96A32 19015 169 4.91 16 NA NA 0 PE1 -NX_Q96A33 55874 483 4.76 17 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_Q96A35 24915 216 9.33 1 Mitochondrion NA 0 PE1 -NX_Q96A37 26122 237 8.42 16 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q96A44 30179 273 9.39 3 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q96A46 39272 364 8.86 10 Mitochondrion inner membrane NA 6 PE1 -NX_Q96A47 39768 359 8.64 15 Cytoplasm;Nucleus NA 0 PE1 -NX_Q96A49 39933 352 4.45 X Perikaryon;Golgi apparatus;Dendrite;Nucleoplasm;Axon;Cytosol;Perinuclear region;Postsynaptic cell membrane;Presynaptic cell membrane;Membrane;Growth cone NA 0 PE1 -NX_Q96A54 42616 375 6.53 1 Cell membrane NA 7 PE1 -NX_Q96A56 27366 240 4.75 8 Cytosol;PML body;Nucleus;Autophagosome NA 0 PE1 -NX_Q96A57 13188 120 9.3 20 Late endosome;Early endosome;Endoplasmic reticulum;Autophagosome;trans-Golgi network;Membrane;Recycling endosome;Synaptic vesicle Parkinson disease 2 PE1 -NX_Q96A58 22608 199 6.91 12 Cytoplasm NA 0 PE1 -NX_Q96A59 44911 401 8.84 16 Cytoplasmic vesicle;Cytoskeleton;Tight junction;Membrane NA 4 PE1 -NX_Q96A61 34653 297 4.14 5 Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q96A65 110498 974 6.07 7 Nucleolus;Cytoplasm;Nucleus;Cell projection;Midbody ring NA 0 PE1 -NX_Q96A70 49980 460 5.4 1 Axon;Perikaryon;Cytoplasmic granule;Cytoplasm;cis-Golgi network;Cytoplasmic vesicle;Dendrite;Perinuclear region;Nucleus;trans-Golgi network;Membrane;Endoplasmic reticulum-Golgi intermediate compartment NA 0 PE1 -NX_Q96A72 17276 148 5.96 12 Nucleus NA 0 PE1 -NX_Q96A73 33247 305 9.39 5 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q96A83 45381 441 7.02 7 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_Q96A84 45292 441 9.31 22 Extracellular matrix NA 0 PE1 -NX_Q96A98 11202 100 11.83 19 Secreted NA 0 PE1 -NX_Q96A99 52339 478 9.64 16 Cytosol;Secreted NA 0 PE2 -NX_Q96AA3 60335 541 9.07 3 Cytoplasmic vesicle;Membrane Congenital disorder of glycosylation 1N 12 PE1 -NX_Q96AA8 94934 810 5.88 5 Golgi apparatus NA 0 PE1 -NX_Q96AB3 22337 205 7.67 19 Cytosol;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q96AB6 34677 310 5.82 16 Nucleoplasm;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q96AC1 77861 680 6.26 14 Stress fiber;Nucleoplasm;Cytoplasm;Cell cortex;I band;Focal adhesion;Nucleus;Lamellipodium membrane;Membrane;Cell surface;Cytoskeleton NA 0 PE1 -NX_Q96AC6 90147 838 9.62 8 Cytosol;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q96AD5 55316 504 6.65 11 Nucleoplasm;Lipid droplet;Cell membrane Neutral lipid storage disease with myopathy 1 PE1 -NX_Q96AE4 67560 644 7.18 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96AE7 129558 1141 6.11 11 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q96AG3 46174 418 6.97 5 Mitochondrion;Mitochondrion outer membrane Neuropathy, hereditary motor and sensory, 6B 6 PE1 -NX_Q96AG4 34930 307 9.61 17 Endoplasmic reticulum membrane;Microsome membrane;Nucleus envelope;Endoplasmic reticulum NA 1 PE1 -NX_Q96AH0 22423 204 9.63 2 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q96AH8 22511 199 6.31 1 Late endosome;Golgi apparatus;Lysosome;Phagosome;trans-Golgi network;Phagosome membrane NA 0 PE1 -NX_Q96AJ1 48125 413 4.68 16 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cilium NA 0 PE1 -NX_Q96AJ9 25218 217 6.06 10 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q96AK3 46598 386 8.73 22 Cytoplasm;P-body NA 0 PE1 -NX_Q96AM1 38171 343 8.96 11 Nucleus membrane;Cell membrane NA 7 PE1 -NX_Q96AN5 51715 459 9.69 19 Nucleolus;Membrane NA 2 PE1 -NX_Q96AP0 57733 544 6.29 16 Nucleus;Telomere Dyskeratosis congenita, autosomal recessive, 7;Dyskeratosis congenita, autosomal dominant, 6 0 PE1 -NX_Q96AP4 65959 578 6.05 6 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96AP7 41176 390 9.42 11 Adherens junction;Cytoskeleton;Cell membrane;Tight junction NA 1 PE1 -NX_Q96AQ1 41605 378 10.52 2 Nucleus NA 0 PE1 -NX_Q96AQ2 22172 219 8.32 1 Cytosol;Midbody;Membrane NA 4 PE2 -NX_Q96AQ6 80643 731 5.21 1 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q96AQ7 26754 238 8.95 3 Lipid droplet;Nucleus;Endoplasmic reticulum Lipodystrophy, familial partial, 5 0 PE1 -NX_Q96AQ8 39694 359 9.67 6 Mitochondrion inner membrane NA 2 PE1 -NX_Q96AQ9 30351 280 4.51 1 Cytosol;Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q96AT1 17465 154 5.86 3 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q96AT9 24928 228 5.33 2 NA NA 0 PE1 -NX_Q96AV8 99888 911 8.33 12 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q96AW1 19224 172 8.77 7 Cytoplasmic vesicle membrane;Golgi apparatus NA 1 PE1 -NX_Q96AX1 67611 596 6.5 12 Lysosome membrane;Nucleoplasm;Cytoplasmic vesicle;Late endosome membrane;Autophagosome;Early endosome;Clathrin-coated vesicle Mucopolysaccharidosis-plus syndrome 0 PE1 -NX_Q96AX2 24815 223 5.98 17 Cytoplasmic vesicle NA 0 PE1 -NX_Q96AX9 109939 1013 8.81 1 Cytoplasm;Endosome NA 0 PE1 -NX_Q96AY2 63252 570 6.7 17 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q96AY3 64245 582 5.36 17 Cytoplasmic vesicle;Endoplasmic reticulum lumen Bruck syndrome 1;Osteogenesis imperfecta 11 0 PE1 -NX_Q96AY4 270884 2481 6.42 22 Nucleolus;Spindle pole;Centrosome;Midbody;Mitochondrion;Spindle;Cytoskeleton NA 0 PE1 -NX_Q96AZ1 24911 226 5.29 12 Nucleoplasm;Cytoplasm;Nucleus;Centrosome;Golgi apparatus NA 0 PE1 -NX_Q96AZ6 20363 181 9.09 15 Cytoplasm;Nucleolus;Nucleus;Cajal body NA 0 PE1 -NX_Q96B01 38457 352 9.18 12 Nucleus NA 0 PE1 -NX_Q96B02 17331 151 7.64 8 Nucleolus;Nucleus NA 0 PE1 -NX_Q96B18 64949 629 10.38 19 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q96B21 31826 275 6.45 11 Cytosol;Nucleoplasm;Membrane NA 7 PE1 -NX_Q96B23 43395 404 4.77 18 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96B26 30040 276 5.17 13 Mitochondrion;Cytoplasm;Nucleolus;Nucleus Pontocerebellar hypoplasia 1C 0 PE1 -NX_Q96B33 31915 292 7.51 8 Nucleus;Tight junction;Cell membrane NA 4 PE1 -NX_Q96B36 27383 256 4.65 19 Cytosol NA 0 PE1 -NX_Q96B42 16265 140 9.35 2 Mitochondrion;Cytoplasm;Nucleus membrane NA 3 PE1 -NX_Q96B45 11564 105 6.27 10 Cytosol;Nucleus speckle;Lysosome membrane NA 0 PE1 -NX_Q96B49 8002 74 4.66 6 Mitochondrion;Mitochondrion outer membrane NA 0 PE1 -NX_Q96B54 20481 188 4.14 19 Mitochondrion;Nucleolus NA 0 PE1 -NX_Q96B67 46395 414 6.16 5 Cytoplasm;Endosome;Lysosome;Cell membrane;Early endosome NA 0 PE1 -NX_Q96B70 53167 501 8.01 19 Nucleolus NA 0 PE1 -NX_Q96B77 24893 213 9.9 16 Mitochondrion;Cell junction;Membrane NA 2 PE1 -NX_Q96B86 49347 450 7.18 15 Nucleoplasm;Cytosol;Cell membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q96B96 17522 161 5.05 16 Cytoplasmic vesicle;Membrane NA 3 PE1 -NX_Q96B97 73126 665 6.24 X Synaptosome;Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Cytoskeleton;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q96BA8 57005 519 5.03 11 Endoplasmic reticulum membrane;Cytosol;Nucleus;Cell membrane Osteogenesis imperfecta 16 1 PE1 -NX_Q96BD0 77193 722 8.15 20 Cell junction;Cell membrane NA 12 PE1 -NX_Q96BD5 74854 680 9.51 11 Nucleus NA 0 PE1 -NX_Q96BD6 30942 273 8.34 1 Cytosol;Cytoplasm NA 0 PE1 -NX_Q96BD8 29484 255 6.68 18 Kinetochore;Spindle;Cytoskeleton NA 0 PE1 -NX_Q96BF3 30675 282 9.13 19 Cell membrane NA 1 PE1 -NX_Q96BF6 62837 587 5.64 9 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q96BH1 51219 459 6.1 2 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q96BH3 26106 223 6.2 19 Secreted NA 0 PE1 -NX_Q96BI1 44846 424 9.66 11 Apical cell membrane Lung cancer;Rhabdomyosarcoma, embryonal, 1 10 PE1 -NX_Q96BI3 28996 265 7.74 1 Endoplasmic reticulum membrane;Golgi stack membrane NA 7 PE1 -NX_Q96BJ3 35023 306 6.13 1 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q96BJ8 81467 720 5.94 16 Cytoplasm;Cell junction;Cell membrane NA 0 PE1 -NX_Q96BK5 37035 328 9.61 8 Kinetochore;Nucleolus;Nucleus;Telomere NA 0 PE1 -NX_Q96BM0 9549 104 9.7 14 Membrane NA 3 PE1 -NX_Q96BM1 34295 317 9.59 14 NA NA 0 PE1 -NX_Q96BM9 21416 186 7.63 1 Late endosome membrane;Lysosome membrane NA 0 PE1 -NX_Q96BN2 37382 335 6.92 1 Nucleoplasm;Cytosol;Focal adhesion;Nucleus NA 0 PE1 -NX_Q96BN6 64618 582 6.3 10 Nucleoplasm NA 0 PE1 -NX_Q96BN8 40263 352 5.35 5 Mitochondrion;Cytoplasm;Cell membrane Autoinflammation, panniculitis, and dermatosis syndrome 0 PE1 -NX_Q96BP2 13475 118 10.24 10 Mitochondrion;Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q96BP3 73575 646 6.7 5 Nucleus NA 0 PE1 -NX_Q96BQ1 24963 224 9.42 3 Secreted NA 0 PE1 -NX_Q96BQ3 52265 446 8.24 2 NA NA 0 PE1 -NX_Q96BQ5 30834 260 9.26 5 Nucleolus;Nucleus NA 0 PE1 -NX_Q96BR1 57108 496 6.45 8 Cytoplasmic vesicle;Nucleoplasm;Recycling endosome;Early endosome NA 0 PE1 -NX_Q96BR5 25709 231 5.66 1 Mitochondrion;Nucleus;Mitochondrion intermembrane space NA 0 PE1 -NX_Q96BR6 52597 464 9.06 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q96BR9 50141 441 6.81 1 Nucleus speckle;Focal adhesion;Nucleus NA 0 PE1 -NX_Q96BS2 24750 214 4.84 12 Cytosol;Cytoplasm;Cell membrane;Nucleus;Ruffle membrane;Membrane;Lamellipodium NA 0 PE1 -NX_Q96BT1 33461 292 10.19 3 NA NA 0 PE2 -NX_Q96BT3 60423 561 6.14 16 Kinetochore;Nucleus;Centromere NA 0 PE1 -NX_Q96BT7 75208 664 8.21 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96BU1 45582 408 5.02 1 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q96BV0 59752 537 10.23 7 Nucleus NA 0 PE1 -NX_Q96BW1 33786 309 5.71 X Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96BW5 39018 349 6.07 10 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96BW9 51067 452 8.23 3 Cytosol;Mitochondrion inner membrane NA 0 PE1 -NX_Q96BX8 25464 217 8.81 19 NA NA 0 PE1 -NX_Q96BY2 39513 351 5.21 14 Cytoplasm;Nucleus;Cell junction NA 0 PE1 -NX_Q96BY6 249531 2186 6.72 2 Cytosol;Cytoplasm;Nucleus;Dendritic spine;Nucleoplasm NA 0 PE1 -NX_Q96BY7 232763 2078 5.49 14 Nucleoplasm;Lipid droplet;Preautophagosomal structure membrane NA 0 PE1 -NX_Q96BY9 36975 339 7.5 8 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum NA 1 PE1 -NX_Q96BZ4 55626 506 8.61 14 Membrane NA 1 PE1 -NX_Q96BZ8 30529 264 9.68 19 Nucleus;Cell membrane NA 0 PE1 -NX_Q96BZ9 45855 403 6.37 20 Membrane Warburg micro syndrome 4 2 PE1 -NX_Q96C00 50602 473 6.29 6 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q96C01 15641 138 7.56 2 Mitochondrion NA 0 PE1 -NX_Q96C03 49269 454 5.01 17 Mitochondrion outer membrane NA 1 PE1 -NX_Q96C10 76613 678 6.98 17 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q96C11 59993 551 5.9 1 Nucleoplasm;Cytoplasm;Nucleus Amyotrophic lateral sclerosis 0 PE1 -NX_Q96C12 97682 935 6.75 16 Nucleoplasm;Cytosol;Focal adhesion;Cytoplasm ACTH-independent macronodular adrenal hyperplasia 2 0 PE1 -NX_Q96C19 26697 240 5.15 1 Cytosol;Membrane raft NA 0 PE1 -NX_Q96C23 37766 342 6.18 2 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q96C24 76024 671 9.1 X Cytosol;Cell membrane;Microtubule organizing center;Nucleoplasm;Membrane;Secretory vesicle membrane NA 0 PE1 -NX_Q96C28 43088 371 9.73 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96C34 67643 613 5.84 17 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q96C36 33637 320 7.66 1 Mitochondrion;Cytoplasm Leukodystrophy, hypomyelinating, 10 0 PE1 -NX_Q96C45 142442 1275 5.9 3 Mitochondrion;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96C55 28709 264 9.07 19 Nucleus NA 0 PE1 -NX_Q96C57 28171 262 9.44 12 Nucleolus;Nucleus;Nucleus envelope;Golgi apparatus NA 0 PE1 -NX_Q96C74 26107 230 7.62 5 Flagellum;Cilium NA 0 PE1 -NX_Q96C86 38609 337 5.93 11 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Al-Raqad syndrome 0 PE1 -NX_Q96C90 15911 147 4.75 11 Cytoplasm NA 0 PE1 -NX_Q96C92 47961 435 5.03 9 Endosome;Cytoplasm;Midbody;Early endosome;Recycling endosome;Centrosome;Cilium basal body NA 0 PE1 -NX_Q96CA5 32798 298 5.43 20 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Microtubule organizing center NA 0 PE1 -NX_Q96CB5 18380 159 10.91 8 Nucleoplasm;Nucleus NA 0 PE2 -NX_Q96CB8 48808 462 9.72 4 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q96CB9 43089 384 8.47 1 Mitochondrion NA 0 PE1 -NX_Q96CC6 97401 855 8.8 16 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Golgi apparatus membrane NA 7 PE1 -NX_Q96CD0 40516 374 6.96 16 Golgi apparatus NA 0 PE1 -NX_Q96CD2 22395 204 5.72 15 Cytosol NA 0 PE1 -NX_Q96CE8 22277 201 7.4 3 Cytoplasmic vesicle;Nucleolus;Membrane NA 4 PE2 -NX_Q96CF2 26411 233 5.83 8 Cytosol;Late endosome membrane;Midbody ring NA 0 PE1 -NX_Q96CG3 21445 184 5.04 4 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q96CG8 26224 243 8.31 8 Nucleoplasm;Extracellular matrix Barrett esophagus 0 PE1 -NX_Q96CH1 36580 333 8.55 7 Cell membrane NA 7 PE2 -NX_Q96CJ1 28792 260 5.04 3 Nucleus speckle NA 0 PE1 -NX_Q96CK0 67235 615 6.53 19 Nucleus NA 0 PE1 -NX_Q96CM3 42205 377 9.9 11 Mitochondrion;Mitochondrion matrix;Nucleoplasm NA 0 PE1 -NX_Q96CM4 23943 212 4.72 19 Nucleus outer membrane NA 0 PE1 -NX_Q96CM8 68125 615 7.5 17 Mitochondrion;Cytosol;Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q96CN4 91376 794 5.25 19 Nucleus NA 0 PE1 -NX_Q96CN5 75951 670 5.95 17 Cytosol;Nucleoplasm;Centrosome;Cell membrane NA 0 PE1 -NX_Q96CN7 32237 298 6.96 5 Cytoplasmic vesicle;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_Q96CN9 87811 775 5.35 7 Cytosol;Cytoplasm;Golgi apparatus membrane;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q96CP2 14564 140 8.6 16 Nucleus NA 0 PE1 -NX_Q96CP6 80680 724 6.29 19 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 -NX_Q96CP7 28548 247 9.54 17 Cytoplasm;Cell membrane NA 4 PE1 -NX_Q96CQ1 34283 311 8.8 3 Cytosol;Nucleus;Mitochondrion;Mitochondrion inner membrane NA 6 PE1 -NX_Q96CS2 31863 278 5.41 18 Cytosol;Cytoplasm;Spindle;Centrosome;Spindle pole NA 0 PE1 -NX_Q96CS3 52623 445 5.46 5 Cytoplasm;Lipid droplet;Endoplasmic reticulum NA 0 PE1 -NX_Q96CS4 56907 500 9.89 16 Nucleolus;Nucleus NA 0 PE1 -NX_Q96CS7 24736 222 5.15 2 Recycling endosome membrane NA 0 PE1 -NX_Q96CT2 94228 875 6.73 2 Mitochondrion;Cytosol NA 0 PE1 -NX_Q96CT7 25835 223 9.54 19 Cytosol;Centrosome;Cell membrane;Midbody NA 0 PE1 -NX_Q96CU9 53812 486 7.66 11 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency 1 PE1 -NX_Q96CV9 65922 577 5.12 10 Golgi apparatus;Cytosol;Cytoplasmic vesicle;Perinuclear region;Autophagosome;trans-Golgi network;Recycling endosome Amyotrophic lateral sclerosis 12;Glaucoma, normal pressure;Glaucoma 1, open angle, E 0 PE1 -NX_Q96CW1 49655 435 9.57 3 Coated pit;Cell membrane NA 0 PE1 -NX_Q96CW5 103571 907 8.35 13 Centrosome NA 0 PE1 -NX_Q96CW6 35028 309 4.52 16 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q96CW9 59799 530 6.13 9 Nucleolus;Cytosol;Midbody ring;Cell membrane;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q96CX2 35701 325 5.51 13 Mitochondrion;Postsynaptic cell membrane;Presynaptic cell membrane NA 0 PE1 -NX_Q96CX3 31179 271 9.39 3 Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q96CX6 40586 371 6.41 3 Cytosol;Nucleus NA 0 PE1 -NX_Q96D03 21740 193 7.49 4 Nucleoplasm;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q96D05 13238 121 11.58 10 Cytosol;Nucleus;Centrosome;Membrane NA 1 PE1 -NX_Q96D09 93773 838 4.96 X Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q96D15 37493 328 4.74 19 Cytoplasmic vesicle;Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 -NX_Q96D21 30366 266 9.09 22 Cytosol;Cell membrane NA 0 PE1 -NX_Q96D31 32668 301 8.45 12 Cytosol;Cell membrane Immunodeficiency 9;Myopathy, tubular aggregate, 2 4 PE1 -NX_Q96D42 38720 359 6.44 5 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q96D46 57603 503 6.76 3 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q96D53 60069 544 6.84 19 Cytosol;Mitochondrion;Cell membrane;Mitochondrion membrane Nephrotic syndrome 9 1 PE1 -NX_Q96D59 21617 192 7.59 9 Endoplasmic reticulum membrane;cis-Golgi network membrane;Lysosome membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q96D70 30350 268 8.82 19 Cytosol;Nucleus NA 0 PE1 -NX_Q96D71 86662 796 5.45 6 Cytosol;Cytoplasmic vesicle;Clathrin-coated pit;Cell membrane Neurodegeneration with brain iron accumulation 7 0 PE1 -NX_Q96D96 31683 273 6.33 12 Cell membrane;Membrane NA 4 PE1 -NX_Q96D98 16985 161 4.67 19 Nucleus NA 0 PE1 -NX_Q96DA0 22739 208 6.74 16 Cytoplasmic vesicle;Nucleoplasm;Secreted NA 0 PE1 -NX_Q96DA2 24622 213 7.69 X Cytoplasmic vesicle membrane;Cell membrane;Golgi apparatus Waisman syndrome;Mental retardation, X-linked 72 0 PE1 -NX_Q96DA6 12499 116 10.1 3 Mitochondrion inner membrane 3-methylglutaconic aciduria 5 1 PE1 -NX_Q96DB2 39183 347 7.17 3 Nucleus;Cell membrane NA 0 PE1 -NX_Q96DB5 35808 314 8.64 8 Cytoplasm;Cytoskeleton;Centrosome;Spindle;Spindle pole NA 0 PE1 -NX_Q96DB9 19472 178 5.51 19 Endoplasmic reticulum;Cell membrane;Membrane NA 1 PE1 -NX_Q96DC7 54442 493 5.58 5 Mitochondrion;Nucleoplasm;Membrane NA 2 PE1 -NX_Q96DC8 32634 303 8.9 10 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q96DC9 27213 234 5.81 14 NA NA 0 PE1 -NX_Q96DD0 38793 335 5.99 1 M line NA 0 PE1 -NX_Q96DD7 21522 197 8.21 1 Membrane NA 1 PE1 -NX_Q96DE0 21273 195 6.38 3 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q96DE5 11667 110 4.91 10 Cytosol;Kinetochore;Nucleus;Cytoplasm NA 0 PE1 -NX_Q96DE9 17780 158 6.43 X NA NA 0 PE2 -NX_Q96DF8 52568 476 7.06 22 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96DG6 28048 245 6.71 5 Cytosol NA 0 PE1 -NX_Q96DH6 35197 328 8.62 17 Cytosol;Cytoplasm NA 0 PE1 -NX_Q96DI7 39311 357 8.34 1 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q96DL1 64901 559 8.85 11 Membrane NA 1 PE1 -NX_Q96DM1 67004 585 9.29 15 Nucleoplasm;Centrosome NA 0 PE1 -NX_Q96DM3 74975 657 7.89 18 Lysosome membrane;Late endosome membrane;Nucleus NA 0 PE1 -NX_Q96DN0 30480 273 4.57 12 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q96DN2 99915 955 6.06 11 Cytosol;Cytoplasmic vesicle;Nucleus;Secreted NA 0 PE1 -NX_Q96DN5 124189 1066 8.84 8 Centrosome NA 0 PE1 -NX_Q96DN6 101201 1003 9.72 12 Nucleus;Chromosome NA 0 PE1 -NX_Q96DP5 43832 389 9.7 15 Mitochondrion;Cytosol;Nucleoplasm Combined oxidative phosphorylation deficiency 15;Leigh syndrome 0 PE1 -NX_Q96DR4 23517 205 5.12 5 Cell membrane NA 0 PE1 -NX_Q96DR5 27011 249 5.35 20 Secreted NA 0 PE1 -NX_Q96DR7 97346 871 9.07 3 Cytosol;Nucleoplasm;Ruffle;Cell membrane NA 0 PE1 -NX_Q96DR8 9039 90 4.41 12 Secreted;Membrane NA 0 PE1 -NX_Q96DS6 15909 147 8.48 11 Membrane NA 2 PE2 -NX_Q96DT0 37542 336 9.3 11 Nucleus NA 0 PE1 -NX_Q96DT5 520369 4516 6.03 7 Cilium axoneme Ciliary dyskinesia, primary, 7 0 PE1 -NX_Q96DT6 52497 458 5.65 1 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q96DT7 94894 871 5.05 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96DU3 37345 332 6.32 1 Cell membrane NA 1 PE1 -NX_Q96DU7 75207 683 5.03 19 Cytoplasm;Nucleus;Nucleus speckle Kawasaki disease 0 PE1 -NX_Q96DU9 43331 382 9.55 X Mitochondrion matrix;Cytoplasm NA 0 PE1 -NX_Q96DV4 44597 380 7.19 17 Mitochondrion NA 0 PE1 -NX_Q96DW6 33566 304 9.57 3 Mitochondrion inner membrane Anemia, sideroblastic, 2, pyridoxine-refractory 6 PE1 -NX_Q96DX4 64180 576 5.35 16 Secreted Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type 0 PE1 -NX_Q96DX5 31858 294 6.48 X Mitochondrion NA 0 PE1 -NX_Q96DX7 38472 344 4.16 11 Cytoplasmic vesicle;Cell membrane Aniridia 3 0 PE1 -NX_Q96DX8 27863 246 8.56 3 Nucleus;Membrane NA 1 PE1 -NX_Q96DY2 52359 449 9.26 12 Flagellum axoneme;Nucleus NA 0 PE1 -NX_Q96DY7 102193 904 7.91 8 Nucleus NA 0 PE1 -NX_Q96DZ1 54858 483 5.88 2 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q96DZ5 59560 547 7.93 19 Cytoplasm;Cell membrane;Golgi apparatus;Golgi stack NA 0 PE1 -NX_Q96DZ7 22433 209 8.87 3 Membrane NA 4 PE2 -NX_Q96DZ9 24653 223 6.13 14 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 4 PE1 -NX_Q96E09 30529 287 6.32 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96E11 29277 262 9.8 9 Mitochondrion;Cytoskeleton NA 0 PE1 -NX_Q96E14 15865 147 7.76 16 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q96E16 12439 107 5.37 8 Membrane NA 1 PE1 -NX_Q96E17 25952 227 5.09 5 Cytosol;Cell membrane NA 0 PE1 -NX_Q96E22 33224 293 8.81 6 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cell membrane Congenital disorder of glycosylation 1AA;Mental retardation, autosomal dominant 55, with seizures 3 PE1 -NX_Q96E29 47971 417 8.6 8 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q96E35 26433 227 6.4 9 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q96E39 42142 390 9.9 1 Nucleus NA 0 PE1 -NX_Q96E40 25166 222 9.3 9 Flagellum;Acrosome;Cytoplasm;Nucleus;Mitochondrion;Cilium basal body NA 0 PE1 -NX_Q96E52 60120 524 9.36 1 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA 2 PE1 -NX_Q96E66 22206 192 9.38 11 Cytoplasm;Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q96E93 21831 195 5.27 12 Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_Q96EA4 70172 605 5.41 5 Kinetochore;Cytosol;Nucleus;Centrosome;Spindle pole NA 0 PE1 -NX_Q96EB1 46588 424 8.75 11 Nucleoplasm;Cytoplasm;Nucleus Aniridia 2 0 PE1 -NX_Q96EB6 81681 747 4.55 10 Cytosol;Cytoplasm;Mitochondrion;Nucleus;PML body NA 0 PE1 -NX_Q96EC8 26256 236 5.46 X Cytoplasmic vesicle;Golgi apparatus membrane;Endoplasmic reticulum NA 5 PE1 -NX_Q96ED9 83207 719 5.36 19 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Cytosol;Centrosome NA 0 PE1 -NX_Q96EE3 39649 360 8.34 18 Kinetochore;Nuclear pore complex;Lysosome membrane NA 0 PE1 -NX_Q96EE4 15668 140 9.87 7 Nucleoplasm;Secreted NA 0 PE1 -NX_Q96EF0 78919 704 6.2 X Nucleus envelope NA 0 PE1 -NX_Q96EF6 31479 278 8.46 19 NA NA 0 PE1 -NX_Q96EF9 33285 292 6.61 8 NA NA 0 PE2 -NX_Q96EG1 57061 525 6.16 17 Lysosome NA 0 PE1 -NX_Q96EG3 58078 531 9.52 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q96EH3 26170 234 5.32 7 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q96EH5 6293 51 12.41 3 NA NA 0 PE1 -NX_Q96EH8 28789 262 8.36 2 NA NA 0 PE2 -NX_Q96EI5 24647 215 5.16 X Nucleus NA 0 PE1 -NX_Q96EK2 57455 531 9.43 22 Nucleolus;Nucleus NA 0 PE1 -NX_Q96EK4 34455 314 9.18 16 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q96EK5 71814 621 5.34 10 Cytoskeleton Goldberg-Shprintzen syndrome 0 PE1 -NX_Q96EK6 20749 184 8.17 14 Endosome membrane;Golgi apparatus membrane NA 0 PE1 -NX_Q96EK7 103783 910 5.49 6 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q96EK9 38616 354 6.47 1 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q96EL1 31328 285 5.28 3 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q96EL2 19015 167 9.48 7 Nucleoplasm;Cytoplasmic vesicle;Mitochondrion NA 0 PE1 -NX_Q96EL3 12107 112 9.05 2 Mitochondrion;Nucleolus NA 0 PE1 -NX_Q96EM0 38138 354 6.2 14 Cytoplasmic vesicle NA 0 PE1 -NX_Q96EN8 98120 888 6.23 18 Cytosol;Mitochondrion Xanthinuria 2 0 PE1 -NX_Q96EN9 22599 201 6.47 19 Cytoplasmic vesicle NA 0 PE1 -NX_Q96EP0 119652 1072 6.14 14 Cytosol;Cytoplasm NA 0 PE1 -NX_Q96EP1 73386 664 5.71 12 PML body;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q96EP5 43383 407 8.73 19 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q96EP9 46504 437 5.09 4 Cell membrane NA 7 PE1 -NX_Q96EQ0 33429 304 4.8 5 Nucleus NA 0 PE1 -NX_Q96EQ8 26454 232 6.74 18 Cytosol;Nucleolus;Golgi apparatus membrane;Golgi apparatus Tenorio syndrome 0 PE1 -NX_Q96ER3 53558 474 4.38 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96ER9 45811 411 8.3 3 Nucleoplasm;Mitochondrion;Centrosome;Membrane NA 2 PE1 -NX_Q96ES6 42696 412 9.34 8 Cytoplasmic vesicle;Membrane NA 12 PE1 -NX_Q96ES7 33238 293 8.2 16 Nucleolus;Nucleus NA 0 PE1 -NX_Q96ET8 31105 276 9.47 17 Cell membrane;Membrane NA 2 PE1 -NX_Q96EU6 29823 259 10.17 6 Nucleolus;Nucleus NA 0 PE1 -NX_Q96EU7 36382 318 6.36 X Cytosol;Membrane Tn polyagglutination syndrome 1 PE1 -NX_Q96EV2 129986 1170 6.45 7 Nucleoplasm NA 0 PE1 -NX_Q96EV8 39493 351 4.59 6 Cytoskeleton;Synaptic vesicle membrane;Cytoplasm;Endoplasmic reticulum;Endosome membrane;Nucleus;Postsynaptic cell membrane;Melanosome membrane;Postsynaptic density;Cytoplasmic vesicle membrane;Midbody Hermansky-Pudlak syndrome 7 0 PE1 -NX_Q96EW2 55167 488 5.38 3 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q96EX1 10799 92 8.01 1 Mitochondrion;Membrane NA 1 PE1 -NX_Q96EX2 48965 444 8.08 12 Cytosol;Nucleoplasm;Membrane NA 4 PE1 -NX_Q96EX3 57801 536 6.16 9 Cytosol;Cytoplasm;Cilium axoneme;Cilium basal body Short-rib thoracic dysplasia 11 with or without polydactyly 0 PE1 -NX_Q96EY1 52489 480 9.37 16 Mitochondrion;Mitochondrion matrix;Postsynaptic cell membrane;Cytosol NA 0 PE1 -NX_Q96EY4 23864 203 9.33 4 Nucleolus NA 0 PE1 -NX_Q96EY5 28783 273 9.1 19 Endosome;Golgi apparatus;Nucleoplasm;Cytoplasm;Late endosome membrane;Nucleus;Centrosome NA 0 PE1 -NX_Q96EY7 78550 689 6 2 Mitochondrion NA 0 PE1 -NX_Q96EY8 27388 250 8.86 12 Mitochondrion Methylmalonic aciduria type cblB 0 PE1 -NX_Q96EY9 38071 351 8.06 19 Nucleus Mental retardation, autosomal recessive 36 0 PE1 -NX_Q96EZ4 33556 313 9.21 11 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE2 -NX_Q96EZ8 51803 462 9.41 12 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q96F05 46101 449 5.59 11 Cytoplasmic vesicle;Nucleoplasm;trans-Golgi network membrane;Cell membrane NA 1 PE1 -NX_Q96F07 148399 1278 7.03 5 Synaptosome;Cytosol;Cytoplasm;Endoplasmic reticulum;Perinuclear region;Nucleus;Cell membrane Epileptic encephalopathy, early infantile, 65 0 PE1 -NX_Q96F10 19155 170 5.77 17 Cytoplasm NA 0 PE1 -NX_Q96F15 34846 307 7.6 7 Lysosome;Mitochondrion outer membrane NA 1 PE1 -NX_Q96F24 32378 287 5.61 10 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm;Nucleus;Autophagosome NA 0 PE1 -NX_Q96F25 24151 216 9.13 1 Endoplasmic reticulum membrane;Nucleolus;Nucleus;Nucleus membrane Myasthenic syndrome, congenital, 15 1 PE1 -NX_Q96F44 52774 468 5.5 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96F45 62555 646 8.94 10 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q96F46 96122 866 5.06 22 Cytosol;Nucleoplasm;Cell membrane;Secreted Immunodeficiency 51 1 PE1 -NX_Q96F63 38947 343 4.52 19 Nucleoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_Q96F81 170934 1524 6.44 1 Nucleus;Membrane NA 12 PE1 -NX_Q96F83 35690 325 5.96 14 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q96F85 18648 164 7.72 2 Cytosol NA 0 PE1 -NX_Q96F86 56078 508 6.65 15 Cytosol;P-body Mental retardation, autosomal recessive 50 0 PE1 -NX_Q96FA3 46286 418 8.33 2 NA NA 0 PE1 -NX_Q96FA7 26352 236 7.05 7 Cytoplasmic vesicle;Nucleus membrane NA 0 PE2 -NX_Q96FB5 52981 475 8.22 1 Cytosol;Nucleolus;Membrane NA 1 PE1 -NX_Q96FC7 42486 376 5.97 10 Mitochondrion;Cytoplasm;Cytosol NA 0 PE1 -NX_Q96FC9 108313 970 7.07 12 Nucleolus;Spindle pole;Midbody;Nucleus;Centrosome;Chromosome Warsaw breakage syndrome 0 PE1 -NX_Q96FE5 69876 620 8.86 15 Cell membrane NA 1 PE1 -NX_Q96FE7 28248 263 4.92 22 Cell membrane NA 1 PE1 -NX_Q96FF7 24028 219 10.92 19 NA NA 0 PE1 -NX_Q96FF9 27601 252 9.65 11 Nucleoplasm;Cytoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q96FG2 43046 381 8.11 2 Kinocilium;Mitochondrion;Cytoskeleton;Stereocilium;Nucleoplasm Deafness, autosomal recessive, 88 0 PE1 -NX_Q96FH0 13403 119 5.54 19 Nucleoplasm;Cytoplasmic vesicle;Lysosome membrane NA 0 PE1 -NX_Q96FI4 43684 390 9.94 15 Nucleoplasm;Nucleus;Centrosome;Chromosome NA 0 PE1 -NX_Q96FJ0 49783 436 6.79 10 Cell membrane NA 0 PE1 -NX_Q96FJ2 10350 89 6.81 17 Cytoskeleton NA 0 PE1 -NX_Q96FK6 43215 387 5.72 14 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q96FL8 61922 570 7.53 17 Cell membrane NA 13 PE1 -NX_Q96FL9 64321 552 7.84 2 Nucleus;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q96FM1 36475 320 6.84 17 Cytosol;Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane Hyperphosphatasia with mental retardation syndrome 4 7 PE1 -NX_Q96FN4 61190 548 5.71 16 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Mitochondrion NA 0 PE1 -NX_Q96FN5 70660 646 9.19 9 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q96FN9 18660 168 7.71 14 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q96FQ6 11801 103 6.28 1 Cytosol;Cytoplasm;Nucleolus;Cell membrane NA 0 PE1 -NX_Q96FQ7 10201 95 7.81 18 NA NA 0 PE5 -NX_Q96FS4 112149 1042 6.16 11 Nucleolus;Golgi apparatus;Cell membrane;Endomembrane system;Perinuclear region;Nucleus NA 0 PE1 -NX_Q96FT7 70105 647 8.04 2 Membrane NA 2 PE1 -NX_Q96FT9 23529 208 4.62 14 Cytoskeleton;Cilium;Microtubule organizing center Short-rib thoracic dysplasia 18 with polydactyly;Retinitis pigmentosa 81;Cranioectodermal dysplasia 3 0 PE1 -NX_Q96FV0 35340 321 4.86 17 Cytosol NA 0 PE1 -NX_Q96FV2 46597 425 5.44 17 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q96FV3 30264 270 4.96 5 Nucleoplasm;Membrane NA 4 PE1 -NX_Q96FV9 75666 657 4.92 18 Nucleoplasm;Nucleus speckle;Nucleus matrix;Cytoplasm NA 0 PE1 -NX_Q96FW1 31284 271 4.85 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96FX2 9240 82 3.94 3 Cytoplasm;Nucleus NA 0 PE1 -NX_Q96FX7 31382 289 6.89 14 Nucleus NA 0 PE1 -NX_Q96FX8 21386 193 6.68 6 Desmosome;Cell membrane NA 4 PE1 -NX_Q96FZ2 40575 354 8.43 3 Nucleus NA 0 PE1 -NX_Q96FZ5 18834 175 8.23 3 Cell membrane;Membrane NA 4 PE1 -NX_Q96FZ7 23485 201 5.28 17 Endosome membrane;Late endosome membrane;Endomembrane system;Membrane NA 0 PE1 -NX_Q96G01 110750 975 5.6 12 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q96G03 68283 612 6.28 4 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q96G04 36915 330 5.7 16 Cytoplasm NA 0 PE1 -NX_Q96G21 33757 291 9.49 2 Nucleolus NA 0 PE1 -NX_Q96G23 44876 380 9.03 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus membrane NA 6 PE1 -NX_Q96G25 29080 268 6.92 1 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q96G27 29140 269 5.61 2 Cytosol NA 0 PE1 -NX_Q96G28 39447 342 4.93 2 Flagellum;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96G30 23548 205 4.92 6 Endoplasmic reticulum membrane;Cell membrane Obesity 1 PE1 -NX_Q96G42 63314 594 9.25 22 NA NA 0 PE1 -NX_Q96G46 72594 650 8.4 19 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96G61 18559 164 5.73 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q96G74 60626 571 6.1 X Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q96G75 44414 393 6.15 5 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96G79 34593 324 9.77 5 Nucleoplasm;Golgi apparatus membrane NA 9 PE2 -NX_Q96G91 40345 374 9.35 19 Cell membrane NA 7 PE1 -NX_Q96G97 44392 398 5.07 11 Endoplasmic reticulum membrane Congenital generalized lipodystrophy 2;Spastic paraplegia 17, autosomal dominant;Neuronopathy, distal hereditary motor, 5A;Encephalopathy, progressive, with or without lipodystrophy 2 PE1 -NX_Q96GA3 54855 475 4.8 6 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96GA7 34674 329 6.41 12 Cytosol NA 0 PE1 -NX_Q96GC5 23935 212 9.04 11 Mitochondrion NA 0 PE1 -NX_Q96GC6 74177 653 6.3 19 Cytoplasm;Nucleolus;Nucleus;Centrosome NA 0 PE1 -NX_Q96GC9 46238 406 6.47 17 Nucleolus;Golgi apparatus;Cytoplasm;Vacuole membrane;Cell membrane;Endoplasmic reticulum;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 7 PE1 -NX_Q96GD0 31698 296 6.12 22 Cytosol;Cytoskeleton;Ruffle membrane;Cell membrane;Lamellipodium membrane NA 0 PE1 -NX_Q96GD3 73354 660 9.37 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96GD4 39311 344 9.36 17 Nucleoplasm;Nucleus;Spindle;Centromere;Midbody;Chromosome NA 0 PE1 -NX_Q96GE4 95297 821 8.76 17 Cytoplasmic vesicle;Nucleoplasm;Spindle;Centrosome;Spindle pole NA 0 PE1 -NX_Q96GE5 74288 643 9.29 19 Nucleus NA 0 PE1 -NX_Q96GE6 21883 196 7.02 15 Nucleoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q96GE9 12257 116 9.8 9 Mitochondrion inner membrane NA 2 PE1 -NX_Q96GF1 20459 192 6.09 22 Endoplasmic reticulum membrane;Mitochondrion outer membrane NA 2 PE1 -NX_Q96GG9 30124 259 5.18 3 Cytosol;Nucleus NA 0 PE1 -NX_Q96GI7 19569 184 5.64 1 Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q96GJ1 56476 504 9.04 X Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96GK7 34596 314 8.48 2 NA NA 0 PE1 -NX_Q96GL9 17641 167 5.56 1 Membrane NA 1 PE2 -NX_Q96GM1 36880 343 9.64 19 Nucleoplasm;Membrane NA 6 PE1 -NX_Q96GM5 58233 515 9.31 12 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96GM8 56548 510 6.76 1 Nucleoplasm;Nucleus speckle;Nucleolus;Nucleus Pontocerebellar hypoplasia 7 0 PE1 -NX_Q96GN5 52206 454 5.59 7 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q96GP6 92479 870 8.89 22 Cytosol;Nucleoplasm;Nucleus;Membrane Van den Ende-Gupta syndrome 1 PE1 -NX_Q96GQ5 51018 468 6.47 16 Nucleolus;Golgi apparatus;Cytosol;Cytoplasmic vesicle;Nucleoplasm;Membrane NA 1 PE1 -NX_Q96GQ7 89835 796 9.33 20 Nucleolus;Chromosome NA 0 PE1 -NX_Q96GR2 81290 724 5.73 15 Cytoplasmic vesicle;Cytoplasm;Microsome;Endoplasmic reticulum NA 0 PE1 -NX_Q96GR4 30813 267 6.75 9 Nucleoplasm;Membrane NA 4 PE1 -NX_Q96GS4 37226 357 5.56 17 Cytosol;Lysosome membrane;Centrosome NA 0 PE1 -NX_Q96GS6 33990 310 6.39 19 Cytoplasmic vesicle;Postsynaptic density;Endosome membrane;Cell membrane;Dendritic spine NA 0 PE1 -NX_Q96GT9 12354 111 5.12 X NA NA 0 PE1 -NX_Q96GU1 14046 130 4.27 X Mitochondrion NA 0 PE1 -NX_Q96GV9 23083 206 9.51 5 Cytoplasm;Cilium NA 0 PE1 -NX_Q96GW7 99118 911 4.57 1 Membrane;Extracellular matrix NA 0 PE1 -NX_Q96GW9 66591 593 8.38 2 Cytosol;Mitochondrion matrix;Cytoskeleton Spastic ataxia 3, autosomal recessive;Combined oxidative phosphorylation deficiency 25 0 PE1 -NX_Q96GX1 76871 697 5.09 12 Cytoplasmic vesicle;Cilium basal body;Golgi apparatus;Membrane Joubert syndrome 24;Meckel syndrome 8 1 PE1 -NX_Q96GX2 10771 97 4.27 12 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q96GX5 97319 879 5.67 10 Nucleoplasm;Nucleus;Centrosome;Cleavage furrow NA 0 PE1 -NX_Q96GX8 8118 76 4.13 16 Centrosome;Cell membrane NA 0 PE1 -NX_Q96GX9 27125 242 6.7 11 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q96GY0 35092 325 9.86 8 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q96GY3 28383 246 8.93 19 Nucleoplasm NA 0 PE1 -NX_Q96GZ6 54767 507 7.97 3 Cell membrane;Endoplasmic reticulum NA 10 PE1 -NX_Q96H12 32363 275 8.58 9 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q96H15 41578 378 5.75 5 Membrane NA 1 PE1 -NX_Q96H20 28864 258 6.2 17 Cytosol;Cytoplasm;Endosome membrane;Nucleoplasm;Late endosome membrane;Nucleus NA 0 PE1 -NX_Q96H22 39555 339 9.18 16 Kinetochore;Nucleus NA 0 PE1 -NX_Q96H35 21649 190 9.46 9 Nucleolus;Nucleus;Midbody NA 0 PE1 -NX_Q96H40 53631 463 9.27 19 Nucleus NA 0 PE1 -NX_Q96H55 109135 970 7.87 17 Cytosol;Cytoskeleton;Mitochondrion outer membrane NA 0 PE1 -NX_Q96H72 39011 371 5.21 11 Cytosol;Golgi apparatus membrane Ehlers-Danlos syndrome, spondylodysplastic type, 3 8 PE1 -NX_Q96H78 35392 314 9.64 1 Mitochondrion;Nucleus;Mitochondrion inner membrane NA 6 PE1 -NX_Q96H79 32962 300 8.5 7 Cytosol NA 0 PE1 -NX_Q96H86 44943 408 9.19 16 Cytosol;Nucleus NA 0 PE1 -NX_Q96H96 40489 371 9.27 4 Cytosol;Mitochondrion inner membrane Multiple system atrophy 1;Coenzyme Q10 deficiency, primary, 1 9 PE1 -NX_Q96HA1 127720 1249 10.58 7 Endoplasmic reticulum membrane;Nuclear pore complex;Nucleus membrane NA 1 PE1 -NX_Q96HA4 40283 380 10.07 1 Cytosol;Nucleolus;Membrane NA 1 PE1 -NX_Q96HA7 150929 1378 5.99 8 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96HA8 23680 205 5.46 8 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q96HA9 26636 241 9.35 19 Peroxisome membrane NA 2 PE1 -NX_Q96HB5 67567 630 9.51 X Endosome;Cytoplasm;Centriole;Mitochondrion;Cell projection;Growth cone NA 0 PE1 -NX_Q96HC4 63945 596 8.55 4 Synaptosome;Nucleoplasm;Cytoplasm;Cell membrane;Focal adhesion;Postsynaptic density NA 0 PE1 -NX_Q96HD1 45440 420 4.81 3 Cytosol;Nucleolus;Endoplasmic reticulum;Golgi apparatus;Membrane Atrioventricular septal defect 2 2 PE1 -NX_Q96HD9 35241 319 5.57 11 Cytoplasm;Apical cell membrane NA 0 PE1 -NX_Q96HE7 54393 468 5.48 14 Endoplasmic reticulum membrane NA 0 PE1 -NX_Q96HE8 23077 216 10.55 11 Cilium;Golgi apparatus;Membrane NA 4 PE2 -NX_Q96HE9 40085 360 10.13 17 Cytoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q96HF1 33490 295 7.41 4 Cytoskeleton;Secreted NA 0 PE1 -NX_Q96HG1 9236 83 10.36 X Membrane NA 1 PE1 -NX_Q96HH4 33611 297 4.76 2 Cytosol;Nucleoplasm;Centrosome;Membrane NA 2 PE1 -NX_Q96HH6 36392 336 8.73 12 Membrane NA 6 PE1 -NX_Q96HH9 47869 432 8 5 Cytosol;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q96HI0 86693 755 9.3 3 Nucleolus NA 0 PE1 -NX_Q96HJ3 43225 373 7.06 11 Nucleolus;Nucleus membrane NA 0 PE1 -NX_Q96HJ5 22933 214 5.18 11 Perinuclear region;Endomembrane system NA 4 PE1 -NX_Q96HJ9 12749 113 10.08 7 Mitochondrion NA 0 PE1 -NX_Q96HL8 37148 342 9.18 2 Nucleus NA 0 PE1 -NX_Q96HM7 49727 432 9.58 12 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q96HN2 66721 611 7.13 7 Nucleoplasm;Cytoplasm;Cytosol;Microsome NA 0 PE1 -NX_Q96HP0 229558 2047 6.28 19 Cytosol;Cytoplasm;Perinuclear region Adams-Oliver syndrome 2 0 PE1 -NX_Q96HP4 34854 312 8.68 3 Nucleus NA 0 PE1 -NX_Q96HP8 26116 235 8.83 7 Mitochondrion;Membrane NA 4 PE1 -NX_Q96HQ0 58564 510 9.22 19 Nucleus NA 0 PE1 -NX_Q96HQ2 13196 116 4.87 5 NA NA 0 PE1 -NX_Q96HR3 20277 178 8.45 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96HR8 53717 494 4.76 4 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96HR9 23418 211 8.74 19 Endoplasmic reticulum membrane;Endoplasmic reticulum Retinitis pigmentosa 77 2 PE1 -NX_Q96HS1 32004 289 8.88 12 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_Q96HT8 14808 127 4.46 4 NA NA 0 PE1 -NX_Q96HU1 85354 749 5.66 22 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q96HU8 22485 199 8.98 9 Cell membrane NA 0 PE1 -NX_Q96HV5 29665 264 9.23 3 Nucleoplasm;Cytosol;Golgi apparatus;Membrane NA 5 PE1 -NX_Q96HW7 108171 963 6 11 Nucleolus;Nucleus NA 0 PE1 -NX_Q96HY6 35611 314 5.12 20 Nucleolus;Endoplasmic reticulum Spondyloepimetaphyseal dysplasia, Shohat type 0 PE1 -NX_Q96HY7 103077 919 6.46 10 Mitochondrion 2-aminoadipic 2-oxoadipic aciduria;Charcot-Marie-Tooth disease 2Q 0 PE1 -NX_Q96HZ4 24129 224 5.18 2 Cytosol;Nucleolus;Nucleus NA 0 PE2 -NX_Q96HZ7 6513 61 12.37 21 NA NA 0 PE5 -NX_Q96I13 47331 439 6.54 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96I15 48149 445 6.63 2 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q96I23 12655 114 9.45 4 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q96I24 61640 572 8.6 9 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96I25 44962 401 5.76 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96I27 34746 306 9.21 19 Mitochondrion;Nucleus NA 0 PE1 -NX_Q96I34 57811 528 5.68 8 Cell membrane NA 0 PE1 -NX_Q96I36 6600 57 9.58 12 Mitochondrion;Mitochondrion membrane NA 1 PE1 -NX_Q96I45 11875 108 8.69 9 Mitochondrion;Cell junction;Membrane NA 2 PE1 -NX_Q96I51 49997 464 8.74 7 Mitochondrion;Cytosol;Nucleus;Mitochondrion inner membrane;Mitochondrion membrane NA 0 PE1 -NX_Q96I59 54090 477 6.79 11 Mitochondrion matrix;Nucleoplasm;Mitochondrion;Cytosol Leigh syndrome;Combined oxidative phosphorylation deficiency 24 0 PE1 -NX_Q96I76 59338 525 4.93 1 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q96I82 32945 304 4.67 10 Extracellular matrix NA 0 PE1 -NX_Q96I85 5742 54 4.96 14 Secreted NA 0 PE3 -NX_Q96I99 46511 432 6.15 3 Mitochondrion;Cell membrane NA 0 PE1 -NX_Q96IC2 86886 774 8.64 16 Nucleolus;Nucleus;Nucleus membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q96ID5 51835 467 6.48 1 Postsynaptic cell membrane NA 0 PE1 -NX_Q96IF1 56934 538 6.86 14 P-body;Golgi apparatus;Cell membrane;Centrosome;Nucleus;Cytoskeleton;Cell junction NA 0 PE1 -NX_Q96IG2 48423 436 7.65 17 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q96II8 86083 777 6.25 3 Cytosol;Secreted NA 0 PE1 -NX_Q96IJ6 46291 420 6.73 2 Nucleoplasm;Cytoplasm Alacrima, achalasia, and mental retardation syndrome 0 PE1 -NX_Q96IK0 28795 257 9.62 17 Nucleoplasm;Cell membrane;Membrane NA 8 PE1 -NX_Q96IK1 19196 185 5.89 5 Kinetochore;Centrosome NA 0 PE1 -NX_Q96IK5 58685 515 7.42 2 Nucleus matrix NA 0 PE1 -NX_Q96IL0 24153 206 9.99 14 Mitochondrion NA 0 PE1 -NX_Q96IM9 20586 177 5.46 10 NA NA 0 PE1 -NX_Q96IP4 49666 442 5.03 6 NA Osteogenesis imperfecta 18 0 PE1 -NX_Q96IQ7 34348 327 7.5 11 Nucleoplasm;Membrane NA 1 PE1 -NX_Q96IQ9 32782 312 8.02 19 Cytosol;Nucleus NA 0 PE1 -NX_Q96IR2 113133 970 9.47 19 Nucleus NA 0 PE1 -NX_Q96IR3 4679 41 5.05 22 NA NA 0 PE5 -NX_Q96IR7 39386 371 6.55 1 Mitochondrion NA 0 PE1 -NX_Q96IS3 20086 184 9.45 19 Nucleus Macular degeneration, age-related, 6;Cone-rod dystrophy 11 0 PE1 -NX_Q96IT1 66908 587 5.48 1 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q96IT6 6106 56 10.42 14 NA NA 0 PE5 -NX_Q96IU2 25132 234 8.65 5 Nucleoplasm;Cytoplasm;Cell membrane;Membrane NA 0 PE1 -NX_Q96IU4 22346 210 5.94 3 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q96IV0 74390 654 6.47 3 Cytoplasm Congenital disorder of deglycosylation 0 PE1 -NX_Q96IV6 39002 333 9.01 5 Membrane NA 5 PE1 -NX_Q96IW2 38264 340 4.88 19 Cytosol;Microtubule organizing center NA 0 PE1 -NX_Q96IW7 34948 307 8.57 3 Endoplasmic reticulum membrane NA 4 PE1 -NX_Q96IX5 6458 58 9.78 10 Mitochondrion;Mitochondrion membrane NA 1 PE1 -NX_Q96IX9 14172 119 9.1 1 NA NA 0 PE5 -NX_Q96IY1 32162 281 6.35 1 Kinetochore;Nucleoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q96IY4 48424 423 7.61 13 Secreted NA 0 PE1 -NX_Q96IZ0 36568 340 5.35 12 Cytoplasm;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 -NX_Q96IZ2 26842 230 9.74 6 Nucleolus;Cell membrane NA 6 PE1 -NX_Q96IZ5 47100 413 8.85 X Cytosol;Cytoplasm;Nucleus speckle NA 0 PE1 -NX_Q96IZ6 43537 378 5.69 17 NA NA 0 PE1 -NX_Q96IZ7 38677 334 11.08 3 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q96J01 38772 351 5.7 5 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q96J02 102803 903 5.94 20 Nucleoplasm;Cytoplasm;Early endosome membrane;Cell membrane;Endosome membrane;Nucleus Autoimmune disease, multisystem, with facial dysmorphism 0 PE1 -NX_Q96J42 39885 360 4.77 5 Golgi apparatus;Membrane NA 1 PE1 -NX_Q96J65 152297 1359 8.64 16 Membrane NA 10 PE1 -NX_Q96J66 154301 1382 8.39 16 Cytoplasmic vesicle membrane;Vacuole membrane;Cell membrane NA 10 PE1 -NX_Q96J77 15503 140 9.96 9 NA NA 0 PE1 -NX_Q96J84 83536 757 5.49 1 Cell membrane NA 1 PE1 -NX_Q96J86 16626 154 8.28 21 Nucleoplasm;Membrane NA 1 PE2 -NX_Q96J87 50477 481 8.87 15 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96J88 36793 318 9.9 13 Cytosol NA 0 PE1 -NX_Q96J92 134739 1243 5.36 17 Tight junction Pseudohypoaldosteronism 2B 0 PE1 -NX_Q96J94 98603 861 9.5 12 Cytoplasm NA 0 PE1 -NX_Q96JA1 119113 1093 6.66 3 Cytosol;Cell membrane NA 1 PE1 -NX_Q96JA3 58261 519 5.03 7 trans-Golgi network membrane;Membrane NA 0 PE1 -NX_Q96JA4 76580 679 5.39 11 Membrane NA 4 PE2 -NX_Q96JB1 514664 4490 5.95 6 Cilium axoneme NA 0 PE1 -NX_Q96JB2 94096 828 5.39 13 Cytosol;Nucleoplasm;Cell membrane;Golgi apparatus;Golgi stack membrane NA 0 PE1 -NX_Q96JB3 66156 615 5.95 22 Nucleus NA 0 PE1 -NX_Q96JB5 56921 506 4.68 17 Cytosol;Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q96JB6 84483 756 7.32 10 Cytoplasmic vesicle;Extracellular space NA 0 PE1 -NX_Q96JB8 72779 637 5.4 2 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q96JC1 101809 886 6.53 15 Lysosome membrane;Cytoplasm;Late endosome membrane;Late endosome;Lysosome NA 0 PE1 -NX_Q96JC4 60598 524 9.21 7 Nucleus NA 0 PE2 -NX_Q96JC9 29042 268 5.24 3 Cajal body;Nucleus speckle;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q96JD6 36589 320 7.19 10 Nucleoplasm;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q96JE7 116604 1060 5.71 1 Endoplasmic reticulum membrane;Cytoskeleton;Golgi apparatus membrane;Endoplasmic reticulum;Cell membrane NA 0 PE1 -NX_Q96JE9 86505 813 9.2 11 Golgi apparatus;Cell membrane;Axon;Dendrite;Cytoskeleton;Secretory vesicle membrane NA 0 PE1 -NX_Q96JF0 60158 529 9.77 2 Golgi stack membrane;Nucleolus;Nucleus NA 1 PE1 -NX_Q96JF6 93907 807 9.01 17 Nucleus NA 0 PE1 -NX_Q96JG6 111174 964 5.85 7 Cytosol;Recycling endosome;Cell membrane NA 0 PE1 -NX_Q96JG8 81378 741 6.34 X NA NA 0 PE1 -NX_Q96JG9 410202 3925 7.88 16 Cytoplasmic vesicle;Nucleus Brittle cornea syndrome 1 0 PE1 -NX_Q96JH7 134321 1222 6.77 8 Cytoplasm;Golgi stack;Endoplasmic reticulum;Cell membrane NA 0 PE1 -NX_Q96JH8 117455 1075 6.67 7 Nucleus;Nucleus membrane NA 0 PE1 -NX_Q96JI7 278868 2443 5.63 15 Nucleolus;Cytosol;Cell membrane;Axon;Dendrite;Nucleus Charcot-Marie-Tooth disease 2X;Amyotrophic lateral sclerosis 5, juvenile;Spastic paraplegia 11, autosomal recessive 0 PE1 -NX_Q96JJ3 82615 720 5.62 20 Cytosol;Cytoplasm;Membrane Vascular malformation, primary intraosseous 0 PE1 -NX_Q96JJ6 65861 628 6.39 14 Cytosol;Nucleoplasm;Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 -NX_Q96JJ7 51872 454 4.8 18 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q96JK2 103963 942 5.48 14 Mitochondrion NA 0 PE1 -NX_Q96JK4 86731 782 7.69 14 Secreted NA 0 PE1 -NX_Q96JK9 122293 1138 7.12 4 Nucleus speckle NA 0 PE1 -NX_Q96JL9 75544 665 8.27 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96JM2 284688 2506 7.53 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96JM3 89099 812 8.7 13 Nucleoplasm;Kinetochore;Spindle;Nucleus;Chromosome Mental retardation, autosomal dominant 40 0 PE1 -NX_Q96JM4 199300 1722 5.85 12 NA NA 0 PE1 -NX_Q96JM7 88337 780 6.02 6 Nucleolus;Nucleus NA 0 PE1 -NX_Q96JN0 47007 433 9.39 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96JN2 134045 1154 4.63 7 Acrosome membrane;Nucleolus NA 1 PE1 -NX_Q96JN8 166907 1562 5.57 17 Centriole NA 0 PE1 -NX_Q96JP0 68673 617 7.6 5 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q96JP2 167088 1530 8.75 17 Cytoplasm NA 0 PE1 -NX_Q96JP5 63445 570 7.02 11 Nucleolus;Nucleus NA 0 PE1 -NX_Q96JP9 93595 859 5.34 10 Cell membrane Cone-rod dystrophy 15 1 PE1 -NX_Q96JQ0 346181 3298 4.79 11 Cell membrane Mitral valve prolapse 2;Van Maldergem syndrome 1 1 PE1 -NX_Q96JQ2 111651 1002 4.84 14 Cytosol;Nucleus;Membrane NA 1 PE1 -NX_Q96JQ5 25441 239 7.63 11 Membrane NA 4 PE2 -NX_Q96JS3 92515 809 5.45 6 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96JT2 59323 553 7.44 1 Nucleoplasm;Cytoplasmic vesicle;Membrane NA 11 PE1 -NX_Q96JW4 62473 573 5.69 12 Cell membrane;Endoplasmic reticulum NA 11 PE1 -NX_Q96JX3 74147 654 7.59 6 Mitochondrion;Endoplasmic reticulum;Membrane 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 PE1 -NX_Q96JY0 49219 434 8.94 1 Cytoplasm;Nucleus NA 0 PE1 -NX_Q96JY6 37459 352 9 8 Cytoplasm;Cytoskeleton;Nucleus;Focal adhesion NA 0 PE1 -NX_Q96JZ2 39002 352 6.64 19 Cytosol;Cytoplasm;Focal adhesion;Nucleus;Cell membrane NA 0 PE1 -NX_Q96K12 59438 515 9.44 12 Nucleolus;Peroxisome membrane;Golgi apparatus NA 1 PE1 -NX_Q96K17 17271 158 5.95 1 Cytosol;Nucleus NA 0 PE1 -NX_Q96K19 29815 258 5.34 8 Endoplasmic reticulum membrane;Endoplasmic reticulum Ataxia, sensory, 1, autosomal dominant 3 PE1 -NX_Q96K21 51546 471 5.57 15 Midbody ring;Centrosome;Cleavage furrow NA 0 PE1 -NX_Q96K30 28619 269 11.07 12 Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q96K31 43273 380 5.31 8 NA NA 0 PE1 -NX_Q96K37 44773 410 9.82 19 Golgi apparatus;Membrane NA 9 PE1 -NX_Q96K49 63536 555 7.16 2 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus NA 7 PE1 -NX_Q96K58 67890 619 9.2 16 Nucleolus;Nucleus NA 0 PE1 -NX_Q96K62 54008 511 6.44 19 Cytosol;Nucleus NA 0 PE1 -NX_Q96K75 45938 400 9.13 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96K76 157311 1375 4.97 11 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q96K78 88909 797 8.77 3 Membrane NA 7 PE1 -NX_Q96K80 46052 434 7.58 12 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q96K83 147866 1311 6.56 18 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96KA5 62229 538 8.71 5 Endoplasmic reticulum;Membrane NA 6 PE1 -NX_Q96KB5 36085 322 4.98 8 Cytosol NA 0 PE1 -NX_Q96KC2 20375 179 6.06 10 NA NA 0 PE1 -NX_Q96KC8 63883 554 8.77 10 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum;Nucleus membrane NA 1 PE1 -NX_Q96KC9 43003 395 4.07 4 Mitochondrion;Cytoplasm;Flagellum NA 0 PE1 -NX_Q96KD3 38946 344 9.51 7 Cytosol NA 0 PE2 -NX_Q96KE9 53411 485 5.87 14 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q96KF2 5959 57 9.9 17 Nucleus NA 0 PE2 -NX_Q96KF7 11059 97 9.3 6 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q96KG7 122205 1140 6.5 5 Phagocytic cup;Cell membrane Myopathy, early-onset, areflexia, respiratory distress, and dysphagia 1 PE1 -NX_Q96KG9 89631 808 5.93 11 Endoplasmic reticulum-Golgi intermediate compartment;Cytosol;Cytoplasm;cis-Golgi network;Nucleus;Centrosome Spinocerebellar ataxia, autosomal recessive, 21 0 PE1 -NX_Q96KH6 19680 178 6.12 18 NA NA 0 PE2 -NX_Q96KJ4 74540 702 6.71 16 Membrane NA 1 PE3 -NX_Q96KJ9 20010 171 9.65 20 Mitochondrion inner membrane Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis 0 PE1 -NX_Q96KK3 58372 526 6.71 20 Cell membrane NA 6 PE1 -NX_Q96KK4 34384 312 8.64 6 Cell membrane NA 7 PE2 -NX_Q96KK5 13906 128 10.88 6 Nucleus;Chromosome NA 0 PE1 -NX_Q96KM6 97264 892 9.87 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96KN1 34474 310 5.34 8 Nucleoplasm NA 0 PE1 -NX_Q96KN2 56706 507 5.14 18 Secreted NA 0 PE1 -NX_Q96KN3 52028 472 4.76 11 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q96KN4 32491 292 5.46 2 Nucleus NA 0 PE1 -NX_Q96KN7 146682 1286 5.47 14 Cilium Cone-rod dystrophy 13;Leber congenital amaurosis 6 0 PE1 -NX_Q96KN8 30312 279 8.33 11 NA NA 0 PE1 -NX_Q96KN9 40140 370 9.26 10 Gap junction;Cell membrane NA 4 PE2 -NX_Q96KP1 104066 924 6.46 6 Cytoplasmic vesicle;Midbody ring NA 0 PE1 -NX_Q96KP4 52878 475 5.66 18 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q96KP6 38943 325 7.56 4 NA NA 0 PE1 -NX_Q96KQ4 119565 1090 6.33 14 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q96KQ7 132370 1210 5.3 6 Nucleoplasm;Nucleus speckle;Nucleus;Chromosome NA 0 PE1 -NX_Q96KR1 117012 1074 9.17 5 Nucleoplasm;Cytoplasm;Nucleus;Chromosome;Cytoplasmic granule NA 0 PE1 -NX_Q96KR4 73568 655 6.5 3 Cytosol;Cytoplasm;Focal adhesion;Lipid droplet NA 0 PE1 -NX_Q96KR6 20424 192 10.45 20 Mitochondrion;Cytosol;Cell membrane;Mitochondrion outer membrane NA 2 PE1 -NX_Q96KR7 62552 559 9.27 20 Nucleoplasm;Nucleus matrix NA 0 PE1 -NX_Q96KS0 43650 407 8.18 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96KS9 24182 214 5.93 8 Mitochondrion NA 0 PE1 -NX_Q96KT0 11632 104 9.8 8 NA NA 0 PE4 -NX_Q96KT6 9816 92 8.81 8 NA NA 0 PE5 -NX_Q96KT7 35161 338 6.68 8 Membrane NA 9 PE2 -NX_Q96KV6 65713 586 5.48 6 Membrane NA 1 PE5 -NX_Q96KV7 187437 1748 6.56 16 Centriole;Nucleus speckle NA 0 PE1 -NX_Q96KW2 109912 1035 9.92 6 NA NA 0 PE1 -NX_Q96KW9 21466 195 4.71 13 Acrosome lumen;Acrosome;Secreted NA 0 PE1 -NX_Q96KX0 16433 146 8.6 3 Flagellum;Acrosome;Secreted NA 0 PE1 -NX_Q96KX1 13276 117 9.54 4 Cytosol;Focal adhesion NA 0 PE2 -NX_Q96KX2 35025 299 7.61 12 NA NA 0 PE1 -NX_Q96L03 43499 361 9.87 1 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q96L08 27119 255 10.24 9 Nucleus;Cell membrane NA 1 PE1 -NX_Q96L11 13527 122 5.89 7 Secreted NA 0 PE2 -NX_Q96L12 44996 384 6.19 19 Endoplasmic reticulum lumen Cardiomyopathy, familial hypertrophic 19 0 PE1 -NX_Q96L14 32648 293 5.45 4 NA NA 0 PE5 -NX_Q96L15 32054 291 8.52 11 Secreted NA 0 PE1 -NX_Q96L21 24519 214 10.03 14 Nucleus NA 0 PE1 -NX_Q96L33 26217 236 8.36 15 Endosome membrane;Cell membrane NA 0 PE1 -NX_Q96L34 82520 752 9.7 19 Cytosol;Cytoplasm;Microtubule organizing center;Dendrite;Cilium axoneme;Centrosome;Cilium basal body NA 0 PE1 -NX_Q96L42 123804 1107 6.46 3 Cell membrane;Membrane NA 6 PE2 -NX_Q96L46 27660 248 5.51 16 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q96L50 46723 414 9.27 14 Cytoplasmic vesicle;Nucleoplasm;Nucleus membrane NA 0 PE1 -NX_Q96L58 37138 329 9.72 1 Golgi stack membrane Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures;Ehlers-Danlos syndrome, spondylodysplastic type, 2 1 PE1 -NX_Q96L73 296652 2696 8.4 5 Nucleus;Chromosome;Cell membrane Sotos syndrome 1;Beckwith-Wiedemann syndrome 0 PE1 -NX_Q96L91 343489 3159 9.27 12 Nucleus NA 0 PE1 -NX_Q96L92 61265 541 6.06 1 Nucleoplasm;Cytosol;Early endosome membrane NA 0 PE1 -NX_Q96L93 152011 1317 5.86 20 Mitochondrion;Cytoskeleton;Early endosome membrane NA 0 PE1 -NX_Q96L94 22068 193 9.6 15 Nucleoplasm;Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q96L96 201272 1907 7.73 15 Nucleus Cardiomyopathy, familial hypertrophic 27 0 PE1 -NX_Q96LA5 55542 508 5.98 1 Cell membrane NA 1 PE1 -NX_Q96LA6 46936 429 5.32 1 Cell membrane NA 1 PE1 -NX_Q96LA8 41938 375 5.32 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q96LA9 36461 322 9 11 Cell membrane NA 7 PE2 -NX_Q96LB0 36483 322 8.79 11 Cell membrane NA 7 PE2 -NX_Q96LB1 37099 330 8.36 11 Cell membrane NA 7 PE1 -NX_Q96LB2 36250 322 7.5 11 Cell membrane NA 7 PE1 -NX_Q96LB3 69239 600 5.73 9 Cytoplasmic vesicle;Cilium;Golgi apparatus Bardet-Biedl syndrome 20 0 PE1 -NX_Q96LB4 13917 118 9.16 1 NA NA 0 PE1 -NX_Q96LB8 40620 373 7.2 1 Cytoplasmic vesicle;Cell membrane;Secreted NA 0 PE1 -NX_Q96LB9 37611 341 6.48 1 Secreted NA 0 PE1 -NX_Q96LC7 76592 697 8.69 19 Cytosol;Cytoskeleton;Cell membrane;Secreted NA 1 PE1 -NX_Q96LC9 20508 184 4.91 15 Nucleoplasm NA 0 PE1 -NX_Q96LD1 32949 299 7.59 8 Cytoskeleton;Sarcolemma NA 1 PE1 -NX_Q96LD4 69532 638 6.03 17 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96LD8 24107 212 5.6 15 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q96LI5 63001 555 6.26 4 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96LI6 45107 401 6.68 Y Cytoplasm;Nucleus NA 0 PE1 -NX_Q96LI9 38899 332 10.19 X NA NA 0 PE2 -NX_Q96LJ7 33909 313 8.01 14 Cytosol;Nucleus;Centrosome;Endoplasmic reticulum NA 0 PE1 -NX_Q96LJ8 30811 280 8.87 1 Nucleoplasm;Cilium;Cell membrane;Cell junction NA 0 PE1 -NX_Q96LK0 19166 163 5.24 3 Centriole;Centrosome;Spindle pole;Cilium basal body Morbid obesity and spermatogenic failure 0 PE1 -NX_Q96LK8 42325 384 4.7 17 NA NA 0 PE1 -NX_Q96LL3 14383 132 9.23 16 Membrane NA 1 PE2 -NX_Q96LL4 36790 319 8.84 8 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q96LL9 25961 226 10.49 7 Mitochondrion inner membrane NA 1 PE1 -NX_Q96LM1 14531 132 9.93 12 NA NA 0 PE5 -NX_Q96LM5 21723 186 9.97 4 NA NA 0 PE1 -NX_Q96LM6 20615 180 7.14 2 Cytoplasm;Nucleus NA 0 PE1 -NX_Q96LM9 16552 149 6.25 20 NA NA 0 PE2 -NX_Q96LP2 52032 452 9.15 5 NA NA 0 PE1 -NX_Q96LP6 39738 360 9.69 12 NA NA 0 PE2 -NX_Q96LQ0 49440 422 9.41 14 NA NA 0 PE1 -NX_Q96LR2 25806 239 4.74 1 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q96LR4 15682 140 9.24 3 Secreted NA 0 PE1 -NX_Q96LR5 22255 201 7.59 3 Nucleoplasm NA 0 PE1 -NX_Q96LR7 17838 162 9.51 2 NA NA 0 PE1 -NX_Q96LR9 30546 279 10.45 12 Nucleoplasm;Cytosol;Cell membrane NA 3 PE2 -NX_Q96LS8 17367 159 9.49 2 NA NA 0 PE2 -NX_Q96LT4 48321 415 8.35 10 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 6 PE1 -NX_Q96LT6 29561 269 5.41 1 Cytosol;Cell membrane NA 0 PE2 -NX_Q96LT7 54328 481 5.82 9 Endosome;P-body;Perikaryon;Nucleus membrane;Secreted;Stress granule;Cytoplasm;Lysosome;Axon;Dendrite;Nucleus;Autophagosome;Growth cone Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 0 PE1 -NX_Q96LT9 58575 517 7.61 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96LU5 18504 166 8.29 11 Mitochondrion inner membrane NA 0 PE1 -NX_Q96LU7 101670 910 6.4 12 Nucleolus;Membrane NA 1 PE2 -NX_Q96LW1 70529 612 9.6 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96LW2 46191 410 6.87 17 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA 0 PE2 -NX_Q96LW4 64412 560 5.19 4 Cytosol;Cytoplasm;Mitochondrion matrix;Nucleus;Nucleoplasm Myopia 22, autosomal dominant 0 PE1 -NX_Q96LW7 25589 228 9.43 9 Mitochondrion;Endoplasmic reticulum membrane;Nucleus;Mitochondrion membrane NA 0 PE1 -NX_Q96LW9 47293 406 6.42 6 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96LX7 67721 622 6.76 1 NA NA 0 PE1 -NX_Q96LX8 48076 424 6.29 16 Nucleolus;Nucleus NA 0 PE1 -NX_Q96LY2 41826 380 10.46 2 NA NA 0 PE2 -NX_Q96LZ2 38971 347 5.74 X NA NA 0 PE1 -NX_Q96LZ3 19533 170 4.73 9 NA NA 0 PE1 -NX_Q96LZ7 47399 410 6.12 2 Golgi apparatus;Cytosol;Cytoplasm;Membrane;Spindle;Spindle pole NA 1 PE1 -NX_Q96M02 77910 699 9.21 10 Cytosol;Cytoplasm;Centrosome;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q96M11 34359 299 6.98 11 Cytosol;Cytoplasm;Cell membrane;Centrosome;Centriole;Cilium Hydrolethalus syndrome 1 0 PE1 -NX_Q96M15 15995 143 9.42 3 NA NA 0 PE2 -NX_Q96M19 18185 166 10.52 12 Membrane NA 3 PE5 -NX_Q96M20 67512 576 9.33 20 Cytosol NA 0 PE1 -NX_Q96M27 46701 445 5.56 5 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q96M29 56294 485 6.8 16 Cytoskeleton;Flagellum NA 0 PE1 -NX_Q96M32 82658 723 4.67 14 Cytosol;Flagellum Spermatogenic failure 27 0 PE1 -NX_Q96M34 60162 536 5.51 3 NA NA 0 PE1 -NX_Q96M42 15208 142 8.28 21 NA NA 0 PE5 -NX_Q96M43 72053 638 4.83 1 Cytoplasm NA 0 PE2 -NX_Q96M53 39460 351 9.21 10 Cytosol NA 0 PE2 -NX_Q96M60 59956 508 9 15 Nucleus speckle NA 0 PE2 -NX_Q96M61 38533 343 6.81 X Cytoplasm NA 0 PE1 -NX_Q96M63 75046 670 5.87 19 Cilium Ciliary dyskinesia, primary, 20 0 PE1 -NX_Q96M66 20693 194 9.73 16 NA NA 0 PE2 -NX_Q96M69 93618 825 6 7 Cytoskeleton;Acrosome;Cilium basal body NA 0 PE1 -NX_Q96M78 15528 137 6.44 8 NA NA 0 PE2 -NX_Q96M83 157448 1385 7.16 10 Cytosol;Spindle;Nucleolus NA 0 PE1 -NX_Q96M85 19601 177 9.71 22 NA NA 0 PE2 -NX_Q96M86 533644 4753 6.25 11 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q96M89 76219 665 8.75 2 Cytosol;Nucleus NA 0 PE1 -NX_Q96M91 61835 514 9 18 Cilium;Midbody Heterotaxy, visceral, 6, autosomal 0 PE1 -NX_Q96M93 64411 576 9.14 4 Nucleus NA 0 PE1 -NX_Q96M94 69775 604 5.98 X Cytosol;Nucleus Mental retardation, X-linked 103 0 PE1 -NX_Q96M95 38019 316 9.18 17 NA NA 0 PE1 -NX_Q96M96 86626 766 5.8 12 Cytoskeleton;Filopodium Charcot-Marie-Tooth disease 4H 0 PE1 -NX_Q96M98 33342 296 8.42 6 NA NA 0 PE1 -NX_Q96MA1 36205 342 6.6 1 Nucleus NA 0 PE1 -NX_Q96MA6 54926 479 5.77 9 Cytosol NA 0 PE1 -NX_Q96MB7 39146 349 5.28 11 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q96MC2 87134 740 5.3 2 Flagellum axoneme;Cilium axoneme Ciliary dyskinesia, primary, 21 0 PE1 -NX_Q96MC4 69839 621 9.65 17 Cytoplasmic vesicle;Cilium NA 0 PE1 -NX_Q96MC5 23732 204 5.93 16 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96MC6 53027 490 8.63 1 Cytoplasmic vesicle;Membrane NA 12 PE1 -NX_Q96MC9 29841 270 10.45 1 NA NA 0 PE2 -NX_Q96MD2 50415 445 8.95 12 Cytoskeleton;Lysosome membrane;Spindle NA 0 PE1 -NX_Q96MD7 20166 179 9.54 9 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q96ME1 88341 805 8.73 7 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q96ME7 64682 567 9.8 2 Nucleus NA 0 PE1 -NX_Q96MF0 14640 132 8.82 15 NA NA 0 PE5 -NX_Q96MF2 41507 364 6.5 12 Nucleoplasm;Cytosol;Sarcolemma;Cytoplasm Native American myopathy 0 PE1 -NX_Q96MF4 18252 163 10.64 2 NA NA 0 PE2 -NX_Q96MF6 27686 247 9.81 12 Cytosol;Mitochondrion inner membrane;Golgi apparatus;Endoplasmic reticulum NA 0 PE1 -NX_Q96MF7 27932 247 7.62 8 PML body;Nucleus;Telomere Seckel syndrome 10 0 PE1 -NX_Q96MG2 36319 331 9.43 19 Endoplasmic reticulum membrane;Endoplasmic reticulum;Sarcoplasmic reticulum membrane NA 0 PE1 -NX_Q96MG7 34308 304 9.3 15 Cytoplasm;Nucleus;Telomere Lung disease, immunodeficiency, and chromosome breakage syndrome 0 PE1 -NX_Q96MG8 40675 357 5.46 8 Nucleoplasm;Cytoplasm;Cell membrane;Membrane NA 0 PE1 -NX_Q96MH2 32419 286 6.13 17 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q96MH6 37425 324 7.72 8 Cytoplasmic vesicle;Membrane NA 2 PE1 -NX_Q96MH7 72898 638 8.16 5 NA NA 0 PE1 -NX_Q96MI6 30375 270 5.34 3 Nucleus NA 0 PE1 -NX_Q96MI9 120281 1066 6.85 15 Cytosol Corneal dystrophy, Fuchs endothelial, 8 0 PE1 -NX_Q96MK2 105290 946 7.26 20 Nucleoplasm NA 0 PE1 -NX_Q96MK3 61417 541 8.2 17 Golgi apparatus;Endoplasmic reticulum;Secreted Amelogenesis imperfecta 1G 0 PE1 -NX_Q96MM3 34802 310 9.12 4 Nucleus NA 0 PE1 -NX_Q96MM6 75688 686 8.81 20 NA NA 0 PE1 -NX_Q96MM7 69130 605 9.79 X Nucleoplasm;Membrane NA 1 PE1 -NX_Q96MN2 113415 994 5.54 19 NA NA 0 PE1 -NX_Q96MN5 24150 208 10.05 1 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96MN9 36962 340 9.2 10 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q96MP5 79454 696 7.27 20 Cytoplasmic vesicle;Cytosol;Nucleolus NA 0 PE1 -NX_Q96MP8 33132 289 5.58 7 Cytosol;Cell membrane Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 0 PE1 -NX_Q96MR6 144961 1250 5.61 1 Cytosol NA 0 PE1 -NX_Q96MR7 17524 158 11.82 1 NA NA 0 PE5 -NX_Q96MR9 91121 790 8.99 19 Nucleoplasm;Nucleus;Cell membrane NA 0 PE2 -NX_Q96MS0 148209 1386 6.74 11 Membrane Gaze palsy, familial horizontal, with progressive scoliosis, 1 1 PE1 -NX_Q96MS3 38507 346 6.02 12 Cytosol;Secreted NA 0 PE1 -NX_Q96MT0 16963 163 5.29 10 NA NA 0 PE2 -NX_Q96MT1 75617 663 6.39 5 Endoplasmic reticulum membrane;Cytoplasm;Cytosol;Cell membrane;Nucleoplasm NA 14 PE1 -NX_Q96MT3 94300 831 5.84 12 Cytosol;Nucleoplasm;Nucleus membrane Neural tube defects;Epilepsy, progressive myoclonic 1B 0 PE1 -NX_Q96MT4 13896 127 7.59 6 NA NA 0 PE1 -NX_Q96MT7 213865 1854 5.28 3 Flagellum axoneme;Flagellum Spermatogenic failure 20 0 PE1 -NX_Q96MT8 81344 703 5.78 3 Centriole;Nucleoplasm;Centriolar satellite;Centrosome Seckel syndrome 6 0 PE1 -NX_Q96MU5 26264 243 6.58 17 Secreted NA 0 PE2 -NX_Q96MU6 81964 729 8.77 16 Nucleus NA 0 PE1 -NX_Q96MU7 84700 727 5.87 4 Nucleoplasm;Nucleus speckle;Nucleus;Cell membrane NA 0 PE1 -NX_Q96MU8 51744 473 6.69 22 Nucleoplasm;Cytosol;Nucleus;Cell membrane Ectodermal dysplasia 13, hair/tooth type 1 PE1 -NX_Q96MV1 30041 263 9.4 1 Nucleus speckle;Membrane NA 6 PE1 -NX_Q96MV8 39331 337 8.42 X Cytosol;Nucleus speckle;Golgi apparatus membrane Mental retardation, X-linked 91 4 PE1 -NX_Q96MW1 25248 224 4.85 17 Cytosol NA 0 PE1 -NX_Q96MW5 68424 612 5.12 16 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2H 0 PE1 -NX_Q96MW7 67299 591 8.53 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q96MX0 19714 182 4.39 16 Nucleoplasm;Membrane NA 3 PE1 -NX_Q96MX3 67820 618 9.51 16 Mitochondrion;Nucleus NA 0 PE1 -NX_Q96MX6 39740 357 8.32 2 Nucleoplasm NA 0 PE1 -NX_Q96MY1 47215 436 4.92 20 Nucleoplasm NA 0 PE1 -NX_Q96MY7 73647 647 9.44 14 NA NA 0 PE1 -NX_Q96MZ0 41973 367 6.13 20 Endoplasmic reticulum NA 0 PE1 -NX_Q96MZ4 17021 157 11.82 4 NA NA 0 PE1 -NX_Q96N03 22349 204 8.75 20 NA NA 0 PE1 -NX_Q96N06 15461 139 9.27 16 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q96N11 50047 449 7.61 7 Cytosol;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_Q96N16 73209 626 5.84 4 Cytoskeleton;Membrane NA 0 PE1 -NX_Q96N19 46059 417 8.78 11 Cytoskeleton;Nucleolus;Nucleus;Membrane NA 7 PE1 -NX_Q96N20 34694 296 9.55 16 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q96N21 55137 525 6.57 17 Nucleus speckle;trans-Golgi network membrane;Nucleus membrane;Golgi apparatus;Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_Q96N22 75059 645 9.27 19 Nucleus NA 0 PE2 -NX_Q96N23 351970 3096 8.41 12 Cytosol;Cytoskeleton;Cilium axoneme NA 0 PE1 -NX_Q96N28 19247 172 7.02 18 Mitochondrion NA 0 PE1 -NX_Q96N35 15076 136 7.18 15 Membrane NA 1 PE5 -NX_Q96N38 63883 554 9.29 19 Nucleus NA 0 PE1 -NX_Q96N46 88319 770 8.77 3 Nucleus NA 0 PE1 -NX_Q96N53 15424 147 11.86 11 NA NA 0 PE5 -NX_Q96N58 68531 590 9.19 19 Nucleus NA 0 PE1 -NX_Q96N64 81960 755 9.09 5 Nucleoplasm;Focal adhesion;Nucleus NA 0 PE1 -NX_Q96N66 52765 472 9.16 19 Cytosol;Membrane Mental retardation, autosomal recessive 57 7 PE1 -NX_Q96N67 242561 2140 6.34 1 Axon Epileptic encephalopathy, early infantile, 23 0 PE1 -NX_Q96N68 19136 181 7.45 18 Membrane NA 1 PE5 -NX_Q96N76 74831 676 6.34 3 NA Urocanase deficiency 0 PE1 -NX_Q96N77 49528 438 5.78 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96N87 70897 628 7.03 5 Endoplasmic reticulum;Membrane NA 12 PE2 -NX_Q96N95 38612 335 8.26 18 Cytoplasm;Nucleus NA 0 PE1 -NX_Q96N96 74820 652 7.01 13 Ruffle membrane;Cytosol;Cytoplasm;Nucleoplasm;Filopodium;Lamellipodium NA 0 PE1 -NX_Q96NA2 44200 401 5.47 17 Phagosome membrane;Late endosome membrane;Lysosome membrane NA 0 PE1 -NX_Q96NA8 55949 513 9.23 8 Nucleus;Cell membrane;Membrane NA 1 PE1 -NX_Q96NB1 19778 174 6.6 16 Cilium;Centriole;Cytoplasmic granule;Centriolar satellite;Centrosome;Cilium basal body NA 0 PE1 -NX_Q96NB2 36232 322 9.48 10 Mitochondrion;Mitochondrion membrane NA 5 PE1 -NX_Q96NB3 41999 372 5.22 17 Nucleoplasm;Nucleus speckle;Nucleus;Chromosome NA 0 PE1 -NX_Q96NC0 23612 199 9.08 5 Mitochondrion;Nucleus NA 0 PE1 -NX_Q96ND0 30777 272 9.77 18 Mitochondrion;Cytoplasm;Nucleus;Golgi apparatus;Membrane NA 1 PE1 -NX_Q96ND8 66033 569 9.07 19 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q96NE9 72044 622 7.12 14 Mitochondrion;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q96NF6 25558 230 9.67 8 Membrane NA 1 PE2 -NX_Q96NG3 76655 672 5.49 17 Cytoplasm;Cilium axoneme Ciliary dyskinesia, primary, 35 0 PE1 -NX_Q96NG5 45755 402 9.2 19 Nucleus NA 0 PE1 -NX_Q96NG8 60498 517 8.79 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q96NH3 144756 1257 6.3 6 Mitochondrion;Cytoplasm;Cilium NA 0 PE1 -NX_Q96NI6 79445 719 7.26 14 Membrane NA 1 PE1 -NX_Q96NI8 62330 536 8.63 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96NJ1 14269 140 11.49 9 NA NA 0 PE2 -NX_Q96NJ3 68261 590 8.59 19 Nucleus NA 0 PE1 -NX_Q96NJ5 70362 620 5.97 6 NA NA 0 PE2 -NX_Q96NJ6 57662 502 6.99 17 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96NK8 38705 337 8.76 7 Nucleus NA 0 PE1 -NX_Q96NL0 52813 473 5.44 7 NA NA 0 PE1 -NX_Q96NL1 33338 305 5.12 8 Cytosol;Autophagosome membrane;Lysosome membrane NA 2 PE1 -NX_Q96NL3 67492 588 8.73 19 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q96NL6 80910 688 5.83 4 Centriole;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q96NL8 23381 207 6.52 8 Photoreceptor inner segment;Cytoplasm;Cytosol;Cell junction;Cell membrane Cone-rod dystrophy 16;Retinitis pigmentosa 64;Bardet-Biedl syndrome 21 0 PE1 -NX_Q96NM4 51604 488 6.23 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96NN9 66791 605 9.2 22 Mitochondrion NA 0 PE1 -NX_Q96NR2 14382 134 11.88 20 NA NA 0 PE2 -NX_Q96NR3 101341 888 8.57 X Cell membrane Autism, X-linked 4 11 PE2 -NX_Q96NR7 21356 200 12.28 4 NA NA 0 PE5 -NX_Q96NR8 35094 316 9.73 14 NA Leber congenital amaurosis 13;Retinitis pigmentosa 53 0 PE1 -NX_Q96NS1 14301 127 8.42 11 Nucleolus NA 0 PE2 -NX_Q96NS5 49637 453 8.39 17 Focal adhesion NA 0 PE1 -NX_Q96NS8 16687 147 6.48 16 NA NA 0 PE5 -NX_Q96NT0 19761 180 6.44 2 Endoplasmic reticulum-Golgi intermediate compartment;Endosome;Lysosome;COPI-coated vesicle;Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane Congenital disorder of glycosylation 2O 0 PE1 -NX_Q96NT1 19593 182 4.12 4 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96NT3 27207 240 6.4 22 Nucleoplasm NA 0 PE1 -NX_Q96NT5 49771 459 9.03 17 Cytosol;Cytoplasm;Apical cell membrane;Cell membrane Hereditary folate malabsorption 12 PE1 -NX_Q96NU0 140415 1288 7.19 9 Membrane NA 1 PE2 -NX_Q96NU1 72708 681 7.34 1 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96NU7 46743 426 6.14 12 Cytoskeleton;Focal adhesion;Cell membrane NA 0 PE1 -NX_Q96NW4 116984 1050 6.42 19 Endosome;Late endosome;Melanosome;Lysosome;Cytosol;Cell membrane;Early endosome;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q96NW7 172581 1537 6.37 1 Postsynaptic density;Cytoplasm NA 0 PE1 -NX_Q96NX5 53087 476 7.83 1 Cytoplasm;Golgi apparatus membrane;Cell membrane NA 0 PE1 -NX_Q96NX9 65323 599 9.22 X Nucleus NA 0 PE2 -NX_Q96NY7 73012 704 4.29 21 Cytoplasm;Cell membrane NA 1 PE1 -NX_Q96NY8 55454 510 5.23 1 Adherens junction;Cell membrane;Secreted Ectodermal dysplasia-syndactyly syndrome 1 1 PE1 -NX_Q96NY9 61173 551 9.78 11 Nucleolus;Nucleus NA 0 PE1 -NX_Q96NZ1 55215 517 5.93 12 Cytosol;Mitochondrion;Nucleus NA 0 PE1 -NX_Q96NZ8 58798 548 5.84 16 Secreted NA 0 PE1 -NX_Q96NZ9 17208 151 5.2 10 Cytoplasmic vesicle;Nucleoplasm;Cell membrane;Secreted NA 0 PE1 -NX_Q96P09 27089 236 6.99 19 Cytoplasm NA 0 PE1 -NX_Q96P11 46692 429 8.91 7 NA NA 0 PE1 -NX_Q96P15 44099 392 8.42 18 Cytoplasm NA 0 PE1 -NX_Q96P16 35720 312 7.13 18 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q96P20 118173 1036 6.22 1 Cytosol;Inflammasome;Nucleus;Endoplasmic reticulum;Secreted Chronic infantile neurologic cutaneous and articular syndrome;Deafness, autosomal dominant 34, with or without inflammation;Keratoendothelitis fugax hereditaria;Familial cold autoinflammatory syndrome 1;Muckle-Wells syndrome 0 PE1 -NX_Q96P26 68804 610 9.03 2 Cytoplasm NA 0 PE1 -NX_Q96P31 80856 734 6.56 1 Cell membrane Rheumatoid arthritis 1 PE1 -NX_Q96P44 99369 957 8.57 6 Cytosol;Cytoplasm;Extracellular matrix NA 0 PE1 -NX_Q96P47 95044 875 8.22 7 Cytoplasm NA 0 PE1 -NX_Q96P48 162192 1450 5.86 11 Golgi stack membrane;Nucleoplasm;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q96P50 92495 834 5.69 1 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q96P53 45154 400 6.46 13 Cytoplasm;Endosome;Early endosome NA 0 PE1 -NX_Q96P56 62041 530 6.83 15 Flagellum membrane Deafness-infertility syndrome 6 PE1 -NX_Q96P63 46276 405 5.36 18 Cytoplasm NA 0 PE1 -NX_Q96P64 73070 663 7.03 10 NA NA 0 PE2 -NX_Q96P65 49488 431 9.27 4 Cell membrane NA 7 PE2 -NX_Q96P66 56716 508 5.51 X Cell membrane Pituitary adenoma 2, growth hormone-secreting 7 PE1 -NX_Q96P67 38409 336 9.21 X Cell membrane NA 6 PE2 -NX_Q96P68 38251 337 8.54 13 Cell membrane NA 7 PE2 -NX_Q96P69 39332 363 10.26 4 Cell membrane NA 7 PE1 -NX_Q96P70 115963 1041 4.71 1 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q96P71 44350 396 5.83 20 Golgi apparatus NA 0 PE1 -NX_Q96P88 32537 292 9.45 1 Cell membrane NA 5 PE5 -NX_Q96PB1 91680 797 9.04 7 Nucleoplasm;Golgi apparatus membrane NA 15 PE1 -NX_Q96PB7 54930 478 8.29 1 Cytoplasmic vesicle;Synapse;Secreted NA 0 PE1 -NX_Q96PB8 29275 259 6.49 3 Membrane NA 1 PE1 -NX_Q96PC2 46417 410 8.28 6 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q96PC3 18280 154 6.32 2 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Clathrin-coated pit;Golgi apparatus Psoriasis 15, pustular 0 PE1 -NX_Q96PC5 159836 1412 4.61 14 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q96PD2 85035 775 6.77 3 Cytosol;Golgi apparatus;Cell membrane;Membrane NA 1 PE1 -NX_Q96PD4 18045 163 9.15 6 Secreted Candidiasis, familial, 6 0 PE1 -NX_Q96PD5 62217 576 7.25 19 Membrane;Cell junction;Secreted NA 0 PE1 -NX_Q96PD6 38812 335 9.52 2 Endoplasmic reticulum membrane NA 3 PE2 -NX_Q96PD7 43831 388 9.46 11 Endoplasmic reticulum membrane;Perinuclear region;Lipid droplet NA 2 PE1 -NX_Q96PE1 142647 1338 8.82 8 Filopodium;Cell membrane NA 7 PE1 -NX_Q96PE2 221673 2063 5.9 11 Cytosol NA 0 PE1 -NX_Q96PE3 109956 977 6.53 2 Nucleus;Nucleus membrane NA 0 PE1 -NX_Q96PE5 15683 141 5.83 10 Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q96PE6 54498 472 9.43 19 Nucleus NA 0 PE1 -NX_Q96PE7 18749 176 9.17 2 Mitochondrion;Cytoplasm;Nucleolus Methylmalonyl-CoA epimerase deficiency 0 PE1 -NX_Q96PF1 79941 710 6.54 15 NA NA 0 PE1 -NX_Q96PF2 40939 358 9.02 22 Centriole;Cytoplasm NA 0 PE1 -NX_Q96PG1 15209 132 8.42 11 Membrane NA 2 PE2 -NX_Q96PG2 29747 267 9.14 11 Membrane NA 4 PE2 -NX_Q96PG8 26498 261 11.98 19 NA NA 0 PE1 -NX_Q96PH1 86439 765 8.88 15 Endoplasmic reticulum;Membrane NA 7 PE1 -NX_Q96PH6 13614 123 6.88 20 Secreted NA 0 PE1 -NX_Q96PI1 8793 79 9.76 1 Cytoplasm;Cell cortex NA 0 PE2 -NX_Q96PJ5 57224 515 6.08 1 Cell membrane NA 1 PE1 -NX_Q96PK6 69492 669 9.68 11 Cytoplasm;Nucleolus;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q96PL1 10161 93 6.71 5 Secreted NA 0 PE1 -NX_Q96PL2 36956 329 8.34 10 Cell membrane;Extracellular matrix NA 0 PE2 -NX_Q96PL5 52605 475 8.75 1 Cytoplasm;Cell membrane NA 1 PE1 -NX_Q96PM5 30110 261 6.26 4 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q96PM9 40454 386 9.88 12 Cytosol;Dendrite;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q96PN6 187149 1610 6.99 1 Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Mitochondrion;Cytoskeleton;Cilium Hypercalciuria absorptive 2 0 PE1 -NX_Q96PN7 132256 1200 6.26 6 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96PN8 30102 268 6.25 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q96PP4 31778 275 10.07 7 NA NA 0 PE1 -NX_Q96PP8 66617 586 5.38 1 Cytoplasm;Golgi apparatus membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q96PP9 73165 640 5.73 1 Cytoplasm;Perinuclear region;Nucleus;Cell membrane;Golgi apparatus membrane NA 0 PE1 -NX_Q96PQ0 128152 1159 6.64 4 Cytosol;Nucleus;Membrane NA 1 PE1 -NX_Q96PQ1 64984 595 6.21 19 Membrane NA 1 PE1 -NX_Q96PQ5 22863 205 4.73 6 NA NA 0 PE5 -NX_Q96PQ6 67959 595 9.21 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96PQ7 84457 755 6.2 4 Cytoskeleton NA 0 PE1 -NX_Q96PR1 70226 638 8.24 12 Synaptosome;Synapse;Apical cell membrane;Basolateral cell membrane;Cytosol;Cell membrane;Axon;Dendrite;Postsynaptic cell membrane;Presynaptic cell membrane;Membrane;Perikaryon NA 6 PE1 -NX_Q96PS1 20188 177 9.45 3 NA NA 0 PE2 -NX_Q96PS6 8425 74 8.48 14 Membrane NA 1 PE4 -NX_Q96PS8 31763 301 6.29 1 Membrane NA 5 PE1 -NX_Q96PT3 22164 197 10.66 unknown Nucleus NA 0 PE2 -NX_Q96PT4 22130 197 10.87 unknown Nucleus NA 0 PE2 -NX_Q96PU4 89985 802 8.55 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96PU5 111932 975 5.56 18 Cytoplasm;Focal adhesion;Multivesicular body;Golgi apparatus Periventricular nodular heterotopia 7 0 PE1 -NX_Q96PU8 37671 341 8.63 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96PU9 27710 254 9.9 11 Cytoplasm NA 0 PE1 -NX_Q96PV0 148284 1343 9.12 6 Nucleus Mental retardation, autosomal dominant 5 0 PE1 -NX_Q96PV4 49934 448 6.33 X NA NA 0 PE1 -NX_Q96PV6 88157 800 9.24 19 Nucleus NA 0 PE1 -NX_Q96PV7 96543 902 8.18 5 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q96PX1 73579 679 4.6 17 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q96PX6 59976 553 9.03 2 NA NA 0 PE1 -NX_Q96PX8 77735 696 6.01 13 Synapse;Secreted;Membrane Trichotillomania 1 PE1 -NX_Q96PX9 139667 1271 6.33 5 Nucleoplasm NA 0 PE1 -NX_Q96PY0 28245 264 11.15 7 NA NA 0 PE5 -NX_Q96PY5 123321 1086 6.98 2 Cytosol;Cytoplasm;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q96PY6 142828 1258 5.67 4 Cytoplasm;Nucleolus;Nucleus;Centrosome;Nucleus membrane Short-rib thoracic dysplasia 6 with or without polydactyly;Amyotrophic lateral sclerosis 24 0 PE1 -NX_Q96PZ0 75035 661 5.98 7 Nucleus NA 0 PE1 -NX_Q96PZ2 70196 611 8.77 11 Cytoplasm;Nucleolus;Nucleus Kenny-Caffey syndrome 2;Gracile bone dysplasia 0 PE1 -NX_Q96PZ7 388736 3564 5.64 8 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q96Q04 153661 1460 4.77 19 Nucleoplasm;Axon;Dendrite;Golgi apparatus membrane;Membrane;Cell junction NA 1 PE1 -NX_Q96Q05 128530 1148 6.17 8 Golgi apparatus;Nucleoplasm;Cytoplasm;cis-Golgi network;Endoplasmic reticulum;Cytoplasmic vesicle Mental retardation, autosomal recessive 13 0 PE1 -NX_Q96Q06 134431 1357 8.92 19 Cytosol;Cytoplasm;Cytoplasmic vesicle;Lipid droplet;Cell membrane NA 0 PE1 -NX_Q96Q07 69188 612 5.48 6 Nucleoplasm Restless legs syndrome 6 0 PE1 -NX_Q96Q11 50128 434 8.14 3 Mitochondrion Retinitis pigmentosa and erythrocytic microcytosis;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 0 PE1 -NX_Q96Q15 410501 3661 6.03 16 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96Q27 65084 587 7.55 14 NA NA 0 PE1 -NX_Q96Q35 52439 445 6.29 2 Cytosol;Cytoplasm;Flagellum;Cell membrane;Cytoplasmic granule NA 0 PE1 -NX_Q96Q40 49023 435 6.68 2 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q96Q42 183634 1657 5.88 2 Cytosol;Cytoskeleton Amyotrophic lateral sclerosis 2;Juvenile primary lateral sclerosis;Infantile-onset ascending spastic paralysis 0 PE1 -NX_Q96Q45 45526 408 6.09 2 Cilium;Membrane Joubert syndrome 14 4 PE1 -NX_Q96Q77 21802 187 4.52 19 NA NA 0 PE1 -NX_Q96Q80 26679 235 8.64 22 Endoplasmic reticulum membrane;Cytoplasmic vesicle NA 4 PE1 -NX_Q96Q83 33375 286 8.58 11 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q96Q89 210629 1820 5.54 10 Nucleolus;Nucleoplasm;Cytoplasm;Spindle pole;Centrosome;Axon;Nucleus;Growth cone;Spindle;Midbody NA 0 PE1 -NX_Q96Q91 108248 983 6.66 5 Membrane NA 12 PE2 -NX_Q96QA5 49365 445 5.19 17 Cytosol;Nucleoplasm;Perinuclear region;Nucleus;Cell membrane NA 0 PE1 -NX_Q96QA6 13577 119 8.21 17 Nucleolus NA 0 PE1 -NX_Q96QB1 170591 1528 5.98 8 Golgi apparatus;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Focal adhesion;Membrane NA 0 PE1 -NX_Q96QC0 99058 940 9.22 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96QD5 58310 511 7.62 11 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q96QD8 56026 506 8.08 12 Cytoplasmic vesicle;Cell membrane NA 11 PE1 -NX_Q96QD9 35818 318 11.78 3 Nucleoplasm;Nucleus speckle;Nucleus envelope NA 0 PE1 -NX_Q96QE2 70371 648 5.81 12 Nucleus membrane;Membrane NA 12 PE1 -NX_Q96QE3 207570 1844 9.27 17 Nucleus NA 0 PE1 -NX_Q96QE4 105567 947 4.83 17 Cytosol;Membrane NA 1 PE1 -NX_Q96QE5 41676 360 9.39 17 Mitochondrion matrix;Mitochondrion;Mitochondrion nucleoid NA 0 PE1 -NX_Q96QF0 53021 476 5.73 12 Cytoplasm;Cytoskeleton;Nucleus;Lamellipodium NA 0 PE1 -NX_Q96QF7 76112 691 4.37 X Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q96QG7 63462 549 5.98 8 Cytoplasm;Cytoskeleton;Centrosome NA 0 PE1 -NX_Q96QH2 73969 670 9.67 19 Golgi apparatus NA 0 PE1 -NX_Q96QH8 17896 159 5.94 X Secreted NA 0 PE1 -NX_Q96QI5 37186 342 10.8 16 Golgi apparatus membrane NA 1 PE1 -NX_Q96QK1 91707 796 5.32 16 Endosome;Late endosome;Lysosome;Cytoplasm;Early endosome;Membrane Parkinson disease 17 0 PE1 -NX_Q96QK8 10710 99 5.15 4 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q96QP1 138861 1244 5.83 4 Cytosol;Centrosome NA 0 PE1 -NX_Q96QR1 10100 104 8.57 5 Secreted NA 0 PE1 -NX_Q96QR8 33241 312 5.35 7 Nucleus NA 0 PE1 -NX_Q96QS1 34631 320 8.81 11 Membrane NA 4 PE1 -NX_Q96QS3 58160 562 5.14 X Nucleus Mental retardation, X-linked, ARX-related;Lissencephaly, X-linked 2;Epileptic encephalopathy, early infantile, 1;Partington syndrome;Agenesis of the corpus callosum, with abnormal genitalia 0 PE1 -NX_Q96QS6 43027 385 9.65 8 NA NA 0 PE2 -NX_Q96QT4 212697 1865 8.1 15 Nucleoplasm;Membrane Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 6 PE1 -NX_Q96QT6 109698 1004 7.94 17 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96QU1 216069 1955 4.94 10 Cell membrane;Secreted Deafness, autosomal recessive, 23;Usher syndrome 1D/F;Usher syndrome 1F 1 PE1 -NX_Q96QU4 30564 278 8.29 10 Nucleus NA 0 PE2 -NX_Q96QU6 57324 501 6.01 11 Golgi apparatus NA 0 PE1 -NX_Q96QU8 128883 1125 5.94 16 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_Q96QV1 78851 700 8.24 4 Nucleoplasm;Cytoplasm;Cell membrane;Secreted NA 0 PE1 -NX_Q96QV6 14234 131 10.86 6 Nucleus;Chromosome NA 0 PE1 -NX_Q96QZ0 44683 392 8.48 11 Gap junction;Cell membrane NA 4 PE2 -NX_Q96QZ7 164581 1491 7.3 3 Nucleoplasm;Tight junction;Cell membrane;Cell junction NA 0 PE1 -NX_Q96R05 15536 134 7.67 1 Cytosol;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q96R06 134422 1193 4.93 17 Kinetochore;Cytoskeleton;Cytoplasm;Midbody;Cytoplasmic granule;Centriolar satellite;Centrosome;Spindle;Spindle pole NA 0 PE1 -NX_Q96R08 35182 314 6.58 11 Cell membrane NA 7 PE2 -NX_Q96R09 34568 309 8.58 11 Cell membrane NA 7 PE2 -NX_Q96R27 35071 311 8.82 1 Cell membrane NA 7 PE2 -NX_Q96R28 39177 347 7.07 1 Cell membrane NA 7 PE3 -NX_Q96R30 35339 315 8.81 5 Cell membrane NA 7 PE3 -NX_Q96R45 34742 310 8.96 7 Cell membrane NA 7 PE2 -NX_Q96R47 34993 310 8.63 7 Cell membrane NA 7 PE2 -NX_Q96R48 35207 311 9.44 7 Cell membrane NA 7 PE2 -NX_Q96R54 34780 314 8.67 1 Cell membrane NA 7 PE3 -NX_Q96R67 34491 309 8.67 11 Cell membrane NA 7 PE2 -NX_Q96R69 34259 305 8.49 15 Cell membrane NA 7 PE2 -NX_Q96R72 35408 315 8.69 14 Cell membrane NA 7 PE3 -NX_Q96R84 34944 312 8.92 16 Cell membrane NA 7 PE5 -NX_Q96RA2 34747 312 6.57 19 Cell membrane NA 7 PE2 -NX_Q96RB7 34450 305 8.7 11 Cell membrane NA 7 PE2 -NX_Q96RC9 34404 309 6.57 11 Cell membrane NA 7 PE2 -NX_Q96RD0 35272 313 9.23 11 Cell membrane NA 7 PE3 -NX_Q96RD1 35660 312 9.09 12 Cell membrane NA 7 PE2 -NX_Q96RD2 36185 323 8.9 11 Cell membrane NA 7 PE2 -NX_Q96RD3 35524 313 8.11 11 Cell membrane NA 7 PE3 -NX_Q96RD6 74447 677 8.19 22 Gap junction;Cell membrane NA 4 PE1 -NX_Q96RD7 48050 426 5.75 11 Endoplasmic reticulum membrane;Gap junction;Cell membrane NA 4 PE1 -NX_Q96RD9 106437 977 6.7 1 Cell membrane NA 1 PE1 -NX_Q96RE7 57258 527 5.52 19 Nucleoplasm;Cytoplasm;Nucleus Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 0 PE1 -NX_Q96RE9 68743 604 9 5 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q96RF0 68894 628 5.44 5 Cytosol;Endosome membrane;Cytoplasmic vesicle membrane;Cell membrane;Endomembrane system NA 0 PE1 -NX_Q96RG2 142929 1323 4.75 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96RI0 41133 385 9.17 19 Cell membrane NA 7 PE1 -NX_Q96RI1 55914 486 6.39 12 Nucleoplasm;Nucleus Cholestasis, progressive familial intrahepatic, 5 0 PE1 -NX_Q96RI8 38451 345 8.28 6 Cell membrane NA 7 PE2 -NX_Q96RI9 39016 348 6.22 6 Cell membrane NA 7 PE2 -NX_Q96RJ0 39092 339 8.99 6 Cell membrane NA 7 PE2 -NX_Q96RJ3 18864 184 8.47 22 Nucleus;Membrane Immunodeficiency, common variable, 4 1 PE1 -NX_Q96RJ6 19017 166 5.11 7 Nucleus NA 0 PE1 -NX_Q96RK0 163820 1608 8.74 19 Cytoplasmic vesicle;Nucleoplasm;Nucleus Mental retardation, autosomal dominant 45 0 PE1 -NX_Q96RK1 18569 184 5.38 1 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96RK4 58282 519 6.9 15 Flagellum;Cytosol;Cytoplasm;Cilium;Cilium membrane;Centriolar satellite;Centrosome Bardet-Biedl syndrome 4 0 PE1 -NX_Q96RL1 79727 719 5.35 5 Nucleus NA 0 PE1 -NX_Q96RL6 75795 698 7.28 19 Membrane NA 1 PE1 -NX_Q96RL7 360276 3174 5.94 9 NA Choreoacanthocytosis 0 PE1 -NX_Q96RM1 7805 72 8.73 1 Cytoplasm NA 0 PE1 -NX_Q96RN1 109006 970 5.86 6 Membrane Spermatogenic failure 3 12 PE1 -NX_Q96RN5 86753 788 9.49 22 Cytoplasm;Nucleus NA 0 PE1 -NX_Q96RP3 12146 112 11.58 3 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q96RP7 54166 486 10.2 7 Cytosol;Golgi stack membrane;Nucleoplasm NA 1 PE1 -NX_Q96RP8 50559 456 7.03 19 Membrane NA 6 PE2 -NX_Q96RP9 83471 751 6.58 3 Mitochondrion;Nucleus Combined oxidative phosphorylation deficiency 1 0 PE1 -NX_Q96RQ1 42549 377 6.27 12 Endoplasmic reticulum membrane;Nucleolus;Cytoplasm;Cytoplasmic vesicle;cis-Golgi network membrane;Nucleus;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 2 PE1 -NX_Q96RQ3 80473 725 7.66 3 Mitochondrion matrix;Mitochondrion 3-methylcrotonoyl-CoA carboxylase 1 deficiency 0 PE1 -NX_Q96RQ9 62881 567 8.79 19 Lysosome NA 0 PE1 -NX_Q96RR1 77154 684 9.13 10 Mitochondrion nucleoid Perrault syndrome 5;Mitochondrial DNA depletion syndrome 7;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 0 PE1 -NX_Q96RR4 64746 588 6.25 12 Cytosol;Cytoplasm;Nucleus;Cell projection NA 0 PE1 -NX_Q96RS0 96620 853 4.84 8 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cajal body NA 0 PE1 -NX_Q96RS6 66756 583 4.99 8 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96RT1 158298 1412 5.32 5 Nucleus speckle;Basolateral cell membrane;Hemidesmosome;Cell membrane;Nucleus membrane NA 0 PE1 -NX_Q96RT6 85282 745 5.85 18 Membrane NA 1 PE1 -NX_Q96RT7 200498 1819 5.89 22 Centrosome Microcephaly and chorioretinopathy, autosomal recessive, 1 0 PE1 -NX_Q96RT8 118321 1024 5.58 15 Cytosol;Centrosome NA 0 PE1 -NX_Q96RU2 122491 1077 5.1 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96RU3 71307 617 5.53 9 Lysosome;Cytoplasm;Clathrin-coated pit;Cell membrane;Cytoplasmic vesicle;Cell cortex;Cytoskeleton NA 0 PE1 -NX_Q96RU7 39578 358 8.34 20 Nucleus NA 0 PE1 -NX_Q96RU8 41009 372 6.86 8 Cell membrane NA 0 PE1 -NX_Q96RV3 258676 2341 6.8 14 Nucleoplasm;Membrane NA 10 PE1 -NX_Q96RW7 613390 5635 6.07 1 Cytoplasm;Basement membrane;Cell junction;Cleavage furrow Macular degeneration, age-related, 1 0 PE1 -NX_Q96RY5 134718 1269 8.08 16 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q96RY7 165193 1462 5.69 16 Cilium basal body;Cilium;Centrosome Short-rib thoracic dysplasia 9 with or without polydactyly;Retinitis pigmentosa 80 0 PE1 -NX_Q96S06 64873 567 9.42 16 Endoplasmic reticulum membrane Combined lipase deficiency 5 PE1 -NX_Q96S07 40998 402 11.09 16 NA NA 0 PE4 -NX_Q96S15 101989 920 6.11 16 Cytoplasm;Lysosome membrane NA 0 PE1 -NX_Q96S16 29509 264 6.16 16 Cytoplasm;Endoplasmic reticulum lumen NA 0 PE1 -NX_Q96S19 22578 204 7.71 16 NA NA 0 PE1 -NX_Q96S21 31304 281 9.34 16 Cell membrane NA 0 PE1 -NX_Q96S37 59630 553 8.61 11 Cell membrane Hypouricemia renal 1 12 PE1 -NX_Q96S38 118682 1066 4.76 1 Endosome;Lysosome;Cytosol;Cytoplasm;Membrane;Nucleus;Early endosome NA 0 PE1 -NX_Q96S42 39561 347 6.5 10 Secreted Heterotaxy, visceral, 5, autosomal 0 PE1 -NX_Q96S44 28160 253 9.56 20 Cytoplasm;Nucleus Galloway-Mowat syndrome 4 0 PE1 -NX_Q96S52 61656 555 6.05 17 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q96S53 63639 571 6.63 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96S55 72133 665 5.73 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96S59 77847 729 6.31 6 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q96S65 63508 589 4.61 3 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q96S66 62023 551 5.36 1 Nucleus;Golgi apparatus;Endoplasmic reticulum;Membrane NA 3 PE1 -NX_Q96S79 23229 203 9.55 17 Cytoplasmic vesicle;Cell membrane NA 0 PE2 -NX_Q96S82 40510 380 4.88 15 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q96S86 40894 360 6.07 15 Cytosol;Cell membrane;Extracellular matrix NA 0 PE1 -NX_Q96S90 25003 227 8.59 1 Nucleus NA 0 PE1 -NX_Q96S94 58147 520 10.27 1 Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_Q96S95 8658 79 5.32 3 Cytosol;Nucleus;Centrosome NA 0 PE1 -NX_Q96S96 25733 227 6.08 8 Lysosome NA 0 PE1 -NX_Q96S97 35274 322 8.53 19 Nucleus speckle;Membrane NA 8 PE1 -NX_Q96S99 31195 279 8.59 19 Perinuclear region;Nucleus;Lysosome NA 0 PE1 -NX_Q96SA4 50742 455 5.81 1 Membrane NA 11 PE1 -NX_Q96SB3 89192 815 4.91 17 Synapse;Filopodium;Cytoplasm;Lamellipodium;Cell membrane;Nucleus;Dendritic spine;Ruffle membrane;Adherens junction;Cytoskeleton NA 0 PE1 -NX_Q96SB4 74325 655 5.81 6 Cytosol;Cytoplasm;Microsome;Cell membrane;Nucleus;Nucleus matrix NA 0 PE1 -NX_Q96SB8 126326 1091 6.57 2 PML body;Nucleus speckle;Nucleoplasm;Cytoplasm;Telomere;Nucleus;Chromosome NA 0 PE1 -NX_Q96SC8 53356 542 8.05 1 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q96SD1 78436 692 5.69 10 Nucleoplasm;Nucleus;Golgi apparatus Omenn syndrome;Severe combined immunodeficiency Athabaskan type;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation 0 PE1 -NX_Q96SE0 45207 405 5.8 2 Membrane NA 1 PE1 -NX_Q96SE7 95770 839 9.34 19 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q96SF2 59388 557 5.49 22 Cytoplasm NA 0 PE1 -NX_Q96SF7 65757 602 7.05 1 Nucleoplasm;Nucleus;Centrosome Cousin syndrome 0 PE1 -NX_Q96SI1 31942 283 7.05 19 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q96SI9 73653 672 8.91 9 Cytoplasm;Nucleus NA 0 PE1 -NX_Q96SJ8 27710 248 4.9 11 Membrane NA 4 PE1 -NX_Q96SK2 62922 561 8.8 7 Cytoplasmic vesicle;Nucleus speckle;Nucleus membrane;Membrane NA 2 PE1 -NX_Q96SK3 80507 696 8.93 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96SL1 52088 478 8.85 3 Cytoplasmic vesicle;Lysosome membrane NA 12 PE1 -NX_Q96SL4 20996 187 8.42 1 Nucleolus;Secreted Barrett esophagus 0 PE1 -NX_Q96SL8 51996 496 8.59 19 Cytoplasm;Nucleus NA 0 PE1 -NX_Q96SM3 81668 734 6.19 20 Secreted NA 0 PE1 -NX_Q96SN7 28570 254 8.7 7 Nucleus;Membrane NA 4 PE1 -NX_Q96SN8 215038 1893 5.44 9 Cytoplasm;Cytoskeleton;Cell junction;Golgi apparatus;Centrosome Microcephaly 3, primary, autosomal recessive 0 PE1 -NX_Q96SQ5 65622 575 9.2 19 Nucleus NA 0 PE1 -NX_Q96SQ7 34644 321 10.24 2 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE2 -NX_Q96SQ9 55817 504 8.8 19 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q96SR6 64010 550 9.42 19 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q96ST2 91955 819 4.58 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96ST3 145175 1273 6.82 15 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q96ST8 89590 783 6.36 19 Cytosol;Cell membrane;Centrosome;Centriole;Mitochondrion intermembrane space;Spindle pole NA 0 PE1 -NX_Q96SU4 83185 736 5.77 1 Cytoplasmic vesicle;Cytoplasm;Late endosome membrane;trans-Golgi network membrane;Golgi apparatus NA 0 PE1 -NX_Q96SW2 50546 442 5.41 3 Cytoplasm;Nucleolus;Nucleus;Membrane Mental retardation, autosomal recessive 2A 0 PE1 -NX_Q96SY0 57471 518 4.99 15 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q96SZ4 80387 725 9.17 16 Nucleus NA 0 PE1 -NX_Q96SZ5 29751 270 5.68 10 NA NA 0 PE1 -NX_Q96SZ6 67689 601 8.52 20 Mitochondrion;Nucleus speckle NA 0 PE1 -NX_Q96T17 81965 732 8.95 X Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96T21 95462 854 8.31 9 Mitochondrion;Nucleoplasm;Nucleus Abnormal thyroid hormone metabolism 0 PE1 -NX_Q96T23 163821 1441 4.94 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96T25 68448 663 9.01 13 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q96T37 107189 977 10.09 1 Nucleoplasm;Nucleus speckle;Nucleus envelope;Nucleus membrane NA 0 PE1 -NX_Q96T49 63551 567 6.06 20 Nucleus;Cell projection;Cell membrane;Nucleus speckle NA 0 PE1 -NX_Q96T51 79818 708 5.54 5 Cytosol;Cytoplasmic vesicle;Early endosome membrane;Nucleus;Cytoplasm NA 0 PE1 -NX_Q96T52 19718 175 9.43 7 Mitochondrion;Mitochondrion inner membrane Gilles de la Tourette syndrome 1 PE1 -NX_Q96T53 49716 435 8.82 8 Endoplasmic reticulum membrane;Golgi apparatus NA 7 PE1 -NX_Q96T54 36895 332 8.61 6 Membrane NA 4 PE2 -NX_Q96T55 34153 309 8.94 6 Membrane NA 4 PE1 -NX_Q96T58 402248 3664 7.35 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96T59 20651 188 8.31 17 NA NA 0 PE1 -NX_Q96T60 57076 521 8.73 19 Nucleolus;Nucleus Microcephaly, seizures, and developmental delay;Ataxia-oculomotor apraxia 4 0 PE1 -NX_Q96T66 28322 252 9.28 3 Mitochondrion NA 0 PE1 -NX_Q96T68 81894 719 7.62 13 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q96T75 10969 97 8.71 21 NA NA 0 PE1 -NX_Q96T76 113290 1030 5.92 10 Nucleoplasm;Spindle;Nucleus NA 0 PE1 -NX_Q96T83 80131 725 5.97 X Cytoplasmic vesicle;trans-Golgi network membrane;Recycling endosome membrane NA 13 PE1 -NX_Q96T88 89814 793 7.66 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96T91 14163 129 8.58 11 Secreted NA 0 PE1 -NX_Q96T92 59491 566 9.46 14 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96TA0 80449 734 4.84 5 Cell membrane NA 1 PE5 -NX_Q96TA1 84138 746 5.82 9 Cytosol;Adherens junction;Nucleoplasm;Cell membrane;Membrane NA 0 PE1 -NX_Q96TA2 86455 773 8.86 10 Mitochondrion;Nucleus;Mitochondrion inner membrane Optic atrophy 11 1 PE1 -NX_Q96TC7 52118 470 5.02 15 Cytoplasm;Mitochondrion outer membrane;Nucleus;Mitochondrion;Spindle;Spindle pole;Mitochondrion membrane NA 1 PE1 -NX_Q99062 92156 836 5.76 1 Cell membrane;Secreted Hereditary neutrophilia;Neutropenia, severe congenital 7, autosomal recessive 1 PE1 -NX_Q99075 23067 208 9.47 5 Extracellular space;Cell membrane NA 1 PE1 -NX_Q99081 72965 682 6.52 15 Nucleoplasm;Nucleus speckle;Nucleus Craniosynostosis 3 0 PE1 -NX_Q99102 231518 2169 5.85 3 Membrane;Cell membrane;Secreted NA 1 PE1 -NX_Q99217 21603 191 6.51 X Extracellular matrix Amelogenesis imperfecta 1E 0 PE1 -NX_Q99218 23250 206 6.92 Y Extracellular matrix NA 0 PE2 -NX_Q99250 227975 2005 5.56 2 Cell membrane Epileptic encephalopathy, early infantile, 11;Seizures, benign familial infantile, 3 24 PE1 -NX_Q99259 66897 594 7.54 2 Cytoplasmic vesicle Cerebral palsy, spastic quadriplegic 1 0 PE1 -NX_Q99417 11967 103 5.71 1 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 -NX_Q99418 46546 400 5.43 19 Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Adherens junction;Cell projection;Growth cone;Tight junction NA 0 PE1 -NX_Q99424 76827 681 7.32 3 Cytosol;Cytoplasmic vesicle;Peroxisome Congenital bile acid synthesis defect 6 0 PE1 -NX_Q99426 27326 244 5.06 19 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q99435 91346 816 5.44 12 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q99436 29965 277 7.58 9 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q99437 21406 205 7.61 1 Cytosol;Vacuole membrane NA 5 PE1 -NX_Q99439 33697 309 6.94 19 Cytosol;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q99440 10499 93 8.85 4 NA NA 0 PE2 -NX_Q99442 45862 399 6.67 3 Endoplasmic reticulum membrane;Cytoskeleton;Endoplasmic reticulum NA 2 PE1 -NX_Q99445 17730 158 6.1 8 Cell membrane NA 0 PE2 -NX_Q99447 43835 389 6.44 17 Cytoskeleton;Centrosome NA 0 PE1 -NX_Q99453 31621 314 9.02 4 Nucleoplasm;Nucleus Congenital central hypoventilation syndrome;Neuroblastoma 2 0 PE1 -NX_Q99456 53511 494 4.71 17 NA Corneal dystrophy, Meesmann 0 PE1 -NX_Q99457 57593 506 5.01 X Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q99459 92251 802 8.22 6 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q99460 105836 953 5.25 2 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q99463 33180 290 9.26 5 Membrane NA 6 PE5 -NX_Q99466 209622 2003 5.43 6 Nucleus;Cell membrane NA 1 PE1 -NX_Q99467 74179 661 5.96 5 Cell membrane NA 1 PE1 -NX_Q99469 44554 402 8.74 3 Nucleoplasm;Cytosol;Sarcolemma;Cell membrane NA 0 PE1 -NX_Q99470 23026 211 6.83 17 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q99471 17328 154 5.94 12 Cytoplasm;Nucleus NA 0 PE1 -NX_Q99487 44036 392 6.43 1 Endoplasmic reticulum membrane;Cytoplasm;Membrane NA 0 PE1 -NX_Q99489 37535 341 8.07 6 Cytosol;Peroxisome NA 0 PE1 -NX_Q99490 124674 1192 9.91 12 Mitochondrion;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q99496 37655 336 6.38 1 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q99497 19891 189 6.33 1 Cytosol;Cytoplasm;Cell membrane;Nucleus;Mitochondrion;Membrane raft Parkinson disease 7 0 PE1 -NX_Q99500 42250 378 9.78 9 Cell membrane NA 7 PE1 -NX_Q99501 72717 681 10.1 22 Cytoskeleton;Cell junction;Cell membrane NA 0 PE1 -NX_Q99502 64593 592 5.79 8 Nucleoplasm;Cytoplasm;Nucleus Otofaciocervical syndrome 1;Anterior segment anomalies with or without cataract;Branchiootic syndrome 1;Branchiootorenal syndrome 1 0 PE1 -NX_Q99504 62663 573 5.06 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q99518 53644 471 6.8 1 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_Q99519 45467 415 5.59 6 Lysosome lumen;Lysosome membrane;Lysosome;Cell membrane;Cytoplasmic vesicle;Cell junction Sialidosis 0 PE1 -NX_Q99523 92068 831 5.46 1 Endoplasmic reticulum membrane;Golgi stack membrane;Lysosome membrane;Nucleus membrane;Golgi apparatus;Cytosol;Cell membrane;Endosome membrane;Membrane NA 1 PE1 -NX_Q99525 11009 98 11.06 6 Nucleus;Chromosome NA 0 PE1 -NX_Q99527 42248 375 8.63 7 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cytoskeleton;Basolateral cell membrane;Cytoplasm;Dendritic spine membrane;Cell membrane;Axon;Dendrite;Perinuclear region;Nucleus;trans-Golgi network;Early endosome;Postsynaptic density;Recycling endosome;Cytoplasmic vesicle membrane;Mitochondrion membrane NA 7 PE1 -NX_Q99536 41920 393 5.88 17 Cytoplasm;Mitochondrion outer membrane NA 0 PE1 -NX_Q99538 49411 433 6.07 14 Nucleoplasm;Cytoplasmic vesicle;Lysosome NA 0 PE1 -NX_Q99541 48075 437 6.34 9 Lipid droplet;Membrane NA 0 PE1 -NX_Q99542 57357 508 7.22 12 Cytoplasmic vesicle;Endoplasmic reticulum;Extracellular matrix Cavitary optic disc anomalies 0 PE1 -NX_Q99543 71996 621 8.85 7 Cytosol;Nucleus NA 0 PE1 -NX_Q99547 19024 160 5.15 16 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q99549 97182 860 5.81 13 Cytosol;Nucleus;Cell membrane;Chromosome NA 0 PE1 -NX_Q99550 133024 1183 5.87 12 Centriole;Cytosol;Nucleus;Cell membrane;Golgi apparatus membrane NA 0 PE1 -NX_Q99551 45778 399 9.49 7 Mitochondrion NA 0 PE1 -NX_Q99558 104042 947 7.77 17 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus;Cytosol NA 0 PE1 -NX_Q99567 83542 741 5.47 17 Nucleoplasm;Nuclear pore complex NA 0 PE1 -NX_Q99569 131868 1192 9.07 2 Desmosome;Spindle;Midbody;Cell membrane;Cell junction NA 0 PE1 -NX_Q99570 153103 1358 6.74 3 Cytoplasmic vesicle;Cytoskeleton;Late endosome;Autophagosome;Membrane NA 0 PE1 -NX_Q99571 43369 388 8.29 12 Cytosol;Cytoskeleton;Membrane NA 2 PE1 -NX_Q99572 68585 595 8.57 12 Cell membrane;Golgi apparatus NA 2 PE1 -NX_Q99574 46427 410 4.84 3 Cytosol;Secreted;Perikaryon;Secretory vesicle lumen Encephalopathy, familial, with neuroserpin inclusion bodies 0 PE1 -NX_Q99575 114709 1024 9.36 8 Nucleolus Anauxetic dysplasia 2 0 PE1 -NX_Q99576 14810 134 4.51 X Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleus speckle NA 0 PE1 -NX_Q99578 24668 217 6.14 18 Nucleus;Cell membrane NA 0 PE1 -NX_Q99581 25030 238 9.28 2 Nucleus speckle;Nucleus Sudden infant death syndrome 0 PE1 -NX_Q99583 62300 582 8.79 17 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q99584 11471 98 5.9 1 Nucleolus;Secreted;Cytosol;Cytoplasm;Cell membrane;Nucleus NA 0 PE1 -NX_Q99590 164652 1463 8.69 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q99592 58354 522 5.41 1 Nucleus Mental retardation, autosomal dominant 22 0 PE1 -NX_Q99593 57711 518 7.14 12 Nucleoplasm;Cytoplasm;Nucleus Holt-Oram syndrome 0 PE1 -NX_Q99594 48676 435 8.49 6 Nucleus NA 0 PE1 -NX_Q99595 18024 171 7.72 1 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA 3 PE1 -NX_Q99598 33112 290 6.1 1 Nucleoplasm;Cytosol;Perinuclear region;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q99607 70730 663 5.41 X Nucleoplasm;PML body;Nucleus NA 0 PE1 -NX_Q99608 36086 321 8.81 15 Nucleoplasm;Cytosol;Nucleus;Perikaryon NA 0 PE1 -NX_Q99611 47305 448 5.63 16 Nucleoplasm NA 0 PE1 -NX_Q99612 31865 283 6.46 10 Cytosol;Cytoplasmic vesicle;Nucleolus;Nucleus Gastric cancer;Prostate cancer 0 PE1 -NX_Q99613 105344 913 5.48 16 Cytoplasm NA 0 PE1 -NX_Q99614 33526 292 4.78 5 Cytosol;Cytoplasm NA 0 PE1 -NX_Q99615 56441 494 6.56 17 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q99616 10986 98 9.94 17 Secreted NA 0 PE1 -NX_Q99618 28998 268 6.02 12 Cytosol NA 0 PE1 -NX_Q99619 28630 263 8.32 12 Cytosol;Cytoplasm NA 0 PE1 -NX_Q99622 13178 126 5.04 12 Nucleus speckle;Cytoplasm Temtamy syndrome 0 PE1 -NX_Q99623 33296 299 9.83 12 Mitochondrion inner membrane;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q99624 55773 504 8.03 3 Cytosol;Cytoskeleton;Cell membrane NA 10 PE1 -NX_Q99626 33520 313 9.65 13 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q99627 23226 209 5.25 2 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q99633 39860 342 8.19 10 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q99638 42547 391 5.41 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q99640 54521 499 6.48 16 Endoplasmic reticulum membrane;Nucleus;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 -NX_Q99643 18610 169 9.74 1 Mitochondrion inner membrane Paraganglioma and gastric stromal sarcoma;Paragangliomas 3 3 PE1 -NX_Q99645 36637 322 4.67 12 Extracellular matrix NA 0 PE1 -NX_Q99650 110509 979 5.54 5 Nucleolus;Membrane Amyloidosis, primary localized cutaneous, 1 1 PE1 -NX_Q99653 22456 195 4.98 15 Endoplasmic reticulum-Golgi intermediate compartment;Cytoplasm;Endoplasmic reticulum;Endomembrane system;Cytoplasmic vesicle;Nucleus;Cell membrane;Membrane;Cytoskeleton NA 0 PE1 -NX_Q99661 81313 725 8.03 1 Kinetochore;Nucleoplasm;Centrosome;Nucleus;Cytoskeleton;Centromere;Midbody NA 0 PE1 -NX_Q99665 97135 862 7.91 1 Cytosol;Cell membrane;Membrane NA 1 PE1 -NX_Q99666 198924 1765 6.03 2 Cytoplasm;Nucleus envelope NA 0 PE1 -NX_Q99674 31905 301 4.35 2 Secreted NA 0 PE1 -NX_Q99675 38242 332 5.05 14 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q99676 86174 751 8.41 6 Nucleus NA 0 PE1 -NX_Q99677 41895 370 9.28 X Cytoplasmic vesicle;Nucleus;Cell membrane NA 7 PE1 -NX_Q99678 38650 358 9.36 8 Cell membrane NA 7 PE1 -NX_Q99679 39515 349 7.87 9 Cell membrane NA 7 PE2 -NX_Q99680 49265 433 9.43 7 Cell membrane NA 7 PE2 -NX_Q99683 154537 1374 5.52 6 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_Q99684 45297 422 9.24 1 Nucleus Neutropenia, severe congenital 2, autosomal dominant;Dominant nonimmune chronic idiopathic neutropenia of adults 0 PE1 -NX_Q99685 33261 303 6.49 3 Cytosol;Nucleoplasm;Membrane NA 0 PE1 -NX_Q99687 41115 375 5 19 Nucleus NA 0 PE2 -NX_Q99689 45119 392 4.24 11 Cytosol;Cytoskeleton;Centrosome;Cell membrane NA 0 PE1 -NX_Q99697 35370 317 9.53 4 Nucleus Anterior segment dysgenesis 4;Axenfeld-Rieger syndrome 1;Ring dermoid of cornea 0 PE1 -NX_Q99698 429139 3801 6.15 1 Nucleoplasm;Cytoplasm;Cell membrane;Microtubule organizing center Chediak-Higashi syndrome 0 PE1 -NX_Q99700 140283 1313 9.6 12 Cytosol;Cytoplasm Amyotrophic lateral sclerosis 13;Spinocerebellar ataxia 2 0 PE1 -NX_Q99704 52392 481 6.05 2 Cytosol;Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 -NX_Q99705 45963 422 9.23 22 Cell membrane NA 7 PE1 -NX_Q99706 41487 377 7.29 19 Early endosome membrane;Cell membrane NA 1 PE1 -NX_Q99707 140527 1265 5.39 1 Cytosol;Cytoplasm Homocystinuria-megaloblastic anemia, cblG complementation type;Neural tube defects, folate-sensitive 0 PE1 -NX_Q99708 101942 897 5.92 18 Nucleoplasm;Nucleus;Chromosome Seckel syndrome 2;Jawad syndrome 0 PE1 -NX_Q99712 42577 375 7.6 21 Cytoplasmic vesicle;Cytosol;Cell membrane;Membrane NA 2 PE1 -NX_Q99714 26923 261 7.65 X Mitochondrion HDS10 mitochondrial disease;Mental retardation, X-linked 17 0 PE1 -NX_Q99715 333147 3063 5.38 6 Nucleus;Extracellular matrix Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 0 PE1 -NX_Q99717 52258 465 7.63 5 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q99719 42777 369 6.21 22 Nucleoplasm;Cytosol;Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q99720 25128 223 5.61 9 Endoplasmic reticulum membrane;Nucleus outer membrane;Lipid droplet;Nucleus envelope;Cell membrane;Growth cone;Cytoplasmic vesicle;Membrane;Postsynaptic density;Nucleus inner membrane;Cell junction Amyotrophic lateral sclerosis 16, juvenile;Distal spinal muscular atrophy, autosomal recessive, 2 1 PE1 -NX_Q99726 41945 388 6 2 Synaptosome;Synaptic vesicle membrane;Lysosome membrane;Cytosol;Nucleolus;Cytoplasmic vesicle;Late endosome membrane;Nucleus;Synaptic vesicle NA 6 PE1 -NX_Q99727 25503 224 7.95 3 Secreted NA 0 PE1 -NX_Q99728 86648 777 8.99 2 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q99729 36225 332 8.21 5 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q99731 10993 98 9.84 9 Secreted NA 0 PE1 -NX_Q99732 17107 161 5.99 16 Endosome membrane;Lysosome membrane;Cytosol;Cytoplasm;Early endosome membrane;Cell membrane;Cytoplasmic vesicle;Nucleoplasm;Late endosome membrane;Golgi apparatus membrane;Nucleus Charcot-Marie-Tooth disease 1C 0 PE1 -NX_Q99733 42823 375 4.6 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q99735 16621 147 9.6 4 Nucleoplasm;Microsome membrane;Endoplasmic reticulum membrane NA 3 PE1 -NX_Q99741 62720 560 9.64 17 Cytosol;Cytoplasm;Spindle;Nucleus;Cytoskeleton Meier-Gorlin syndrome 5 0 PE1 -NX_Q99742 62702 590 8.61 19 Nucleoplasm;Nucleus NA 0 PE2 -NX_Q99743 91791 824 6.35 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q99747 34746 312 5.3 18 Cytosol;Cell membrane;Membrane NA 0 PE1 -NX_Q99748 22405 197 10.92 19 Secreted NA 0 PE1 -NX_Q99750 25029 246 4.29 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q99755 62633 562 8.41 1 Nucleus speckle;Ruffle;Cytoplasm;Cell membrane;Nucleus;Lamellipodium NA 0 PE1 -NX_Q99757 18383 166 8.46 22 Mitochondrion Combined oxidative phosphorylation deficiency 29 0 PE1 -NX_Q99758 191362 1704 7.55 16 Nucleoplasm;Cytosol;Membrane Pulmonary surfactant metabolism dysfunction 3 14 PE1 -NX_Q99759 70898 626 8.98 17 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q99766 24866 215 7.51 14 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane NA 0 PE1 -NX_Q99767 82512 749 4.77 15 NA NA 0 PE1 -NX_Q99784 55343 485 6.48 9 Synapse;Nucleolus;Perikaryon;Secreted;Cytosol;Endoplasmic reticulum;Axon;Nucleus NA 0 PE1 -NX_Q99788 42322 373 8.71 12 Cell membrane NA 7 PE1 -NX_Q99795 35632 319 4.85 1 Membrane NA 1 PE1 -NX_Q99797 80641 713 6.6 13 Mitochondrion;Mitochondrion matrix Combined oxidative phosphorylation deficiency 31 0 PE1 -NX_Q99798 85425 780 7.36 22 Mitochondrion Infantile cerebellar-retinal degeneration;Optic atrophy 9 0 PE1 -NX_Q99801 26350 234 9.23 8 Nucleus NA 0 PE1 -NX_Q99805 75776 663 7.22 13 Endosome membrane;Cytoplasm;Cell membrane NA 9 PE1 -NX_Q99807 24277 217 8.77 16 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane;Cell membrane Coenzyme Q10 deficiency, primary, 8 0 PE1 -NX_Q99808 50219 456 8.62 6 Apical cell membrane;Basolateral cell membrane;Cell membrane NA 11 PE1 -NX_Q99811 27079 253 10.15 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q99814 96459 870 5.87 2 Cytosol;Nucleoplasm;Nucleus;Nucleus speckle Erythrocytosis, familial, 4 0 PE1 -NX_Q99816 43944 390 6.06 11 Nucleolus;Cytosol;Cytoplasm;Early endosome membrane;Midbody ring;Cell membrane;Late endosome membrane;Nucleus;Centrosome NA 0 PE1 -NX_Q99819 25098 225 5.45 16 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q99828 21703 191 4.65 15 Sarcolemma;Apical cell membrane;trans-Golgi network;Nucleoplasm;Cytoplasm;Filopodium tip;Cell membrane;Growth cone;Perinuclear region;Nucleus;Ruffle membrane;Membrane;Lamellipodium;Cytoskeleton;Centrosome NA 0 PE1 -NX_Q99829 59059 537 5.52 20 Nucleoplasm;Cytoplasm;Nucleus;Nucleus membrane;Cell membrane NA 0 PE1 -NX_Q99832 59367 543 7.55 2 Cytosol;Cytoplasm NA 0 PE1 -NX_Q99835 86397 787 8.71 7 Cilium;Membrane Curry-Jones syndrome 7 PE1 -NX_Q99836 33233 296 5.89 3 Cytosol;Cytoplasm;Mitochondrion;Nucleus;Cytoplasmic vesicle MYD88 deficiency 0 PE1 -NX_Q99848 34852 306 10.1 1 Nucleolus NA 0 PE1 -NX_Q99853 34978 325 9.66 15 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q99856 62889 593 4.84 19 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Cytosol NA 0 PE1 -NX_Q99865 29188 258 6.72 X Nucleus NA 0 PE1 -NX_Q99871 40778 368 4.73 X Nucleolus;Cytosol;Cytoplasm;Cell membrane;Nucleus;Spindle;Centrosome NA 0 PE1 -NX_Q99873 42462 371 5.18 19 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q99877 13922 126 10.31 6 Nucleus;Chromosome NA 0 PE1 -NX_Q99878 13936 128 10.88 6 Nucleus;Chromosome NA 0 PE1 -NX_Q99879 13989 126 10.31 6 Nucleus;Chromosome NA 0 PE1 -NX_Q99880 13952 126 10.31 6 Nucleus;Chromosome NA 0 PE1 -NX_Q99884 70911 636 6.22 5 Cytoplasm;Cell membrane;Membrane NA 12 PE1 -NX_Q99895 29484 268 7.54 1 NA Pancreatitis, hereditary 0 PE1 -NX_Q99909 21697 188 8.82 X NA NA 0 PE1 -NX_Q99928 54289 467 7.46 15 Postsynaptic cell membrane;Cell membrane NA 4 PE2 -NX_Q99929 20185 193 11.18 11 Nucleus NA 0 PE1 -NX_Q99932 44819 426 5.31 9 Cytoplasm;Spindle;Nucleus;Acrosome;Microtubule organizing center NA 0 PE1 -NX_Q99933 38779 345 7.68 9 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q99935 27217 248 10.42 4 Secreted NA 0 PE1 -NX_Q99941 76709 703 5.9 6 Endoplasmic reticulum membrane;Nucleolus;Nucleus NA 1 PE1 -NX_Q99942 19881 180 6.2 6 Endoplasmic reticulum membrane;Endoplasmic reticulum;Mitochondrion membrane;Membrane NA 2 PE1 -NX_Q99943 31717 283 9.48 6 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum NA 3 PE1 -NX_Q99944 32262 293 6.37 6 Cytoplasmic vesicle;Nucleus speckle;Secreted NA 0 PE1 -NX_Q99946 31430 306 7.26 6 Synapse;Cell membrane NA 2 PE1 -NX_Q99952 50482 460 8.57 2 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q99954 14048 134 9.62 4 Secreted NA 0 PE1 -NX_Q99956 41868 384 5.8 X Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_Q99958 53719 501 8.68 16 Nucleoplasm;Nucleus Lymphedema-distichiasis 0 PE1 -NX_Q99959 97415 881 9.39 12 Nucleoplasm;Desmosome;Nucleus;Cell junction Arrhythmogenic right ventricular dysplasia, familial, 9 0 PE1 -NX_Q99961 41490 368 5.31 19 Cytosol;Cytoplasm;Early endosome membrane;Podosome NA 0 PE1 -NX_Q99962 39962 352 5.32 9 Cytoplasm;Spindle;Membrane;Cytoskeleton;Early endosome NA 0 PE1 -NX_Q99963 39285 347 5.27 15 Cytoplasm;Early endosome membrane NA 0 PE1 -NX_Q99965 82457 735 5.77 8 Membrane NA 1 PE1 -NX_Q99966 19896 193 4.63 X Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q99967 28497 270 6.42 6 Nucleoplasm;Nucleus Ventricular septal defect 2;Atrial septal defect 8 0 PE1 -NX_Q99969 18618 163 9.3 7 Cytosol;Secreted NA 0 PE1 -NX_Q99972 56972 504 5.44 1 Extracellular space;Rough endoplasmic reticulum;Golgi apparatus;Secreted;Extracellular matrix;Exosome;Endoplasmic reticulum;Mitochondrion outer membrane;Cytoplasmic vesicle;Mitochondrion inner membrane;Mitochondrion intermembrane space;Mitochondrion;Cell projection;Cilium Glaucoma 1, open angle, A;Glaucoma 3, primary congenital, A 0 PE1 -NX_Q99973 290490 2627 8.26 14 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Telomere NA 0 PE1 -NX_Q99983 49492 421 5.34 9 Nucleolus;Endoplasmic reticulum;Extracellular matrix NA 0 PE1 -NX_Q99985 85207 751 8.96 7 Cytosol;Cell membrane;Golgi apparatus;Secreted NA 0 PE1 -NX_Q99986 45476 396 9.02 14 Cytosol;Cytoplasm;Spindle;Nucleus Pontocerebellar hypoplasia 1A 0 PE1 -NX_Q99988 34140 308 9.79 19 Golgi apparatus;Secreted NA 0 PE1 -NX_Q99990 28707 258 9.26 X Nucleus NA 0 PE1 -NX_Q99996 452987 3907 4.95 7 Cytoplasmic vesicle;Cytoplasm;Centrosome;Golgi apparatus Long QT syndrome 11 0 PE1 -NX_Q99999 48764 423 8.84 22 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 -NX_Q9BPU6 61421 564 6.73 2 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9BPU9 19261 175 7.14 19 Nucleus;Cilium axoneme;Cilium basal body Meckel syndrome 10;Joubert syndrome 34 0 PE1 -NX_Q9BPV8 40789 354 9.94 3 Cell membrane NA 7 PE1 -NX_Q9BPW4 39164 351 7.78 22 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q9BPW5 27508 248 9.28 4 Nucleus NA 0 PE2 -NX_Q9BPW8 33310 284 9.35 22 NA NA 0 PE1 -NX_Q9BPW9 35227 319 8.78 2 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_Q9BPX1 28317 270 5.8 19 Cytoplasm NA 0 PE1 -NX_Q9BPX3 114334 1015 5.44 4 Cytoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q9BPX5 16941 153 6.15 9 Cytoskeleton NA 0 PE1 -NX_Q9BPX6 54351 476 8.61 10 Mitochondrion;Mitochondrion inner membrane;Mitochondrion intermembrane space Myopathy with extrapyramidal signs 1 PE1 -NX_Q9BPX7 46451 421 6 7 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9BPY3 39499 351 5.65 11 Cytosol;Cajal body;Cytoskeleton NA 0 PE1 -NX_Q9BPY8 8260 73 4.8 4 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9BPZ2 29158 258 6.72 X Nucleus NA 0 PE1 -NX_Q9BPZ3 14984 127 4.03 5 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q9BPZ7 59123 522 7.24 9 Nucleoplasm;Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane NA 0 PE1 -NX_Q9BQ04 40150 359 6.28 11 Nucleolus;Nucleus NA 0 PE1 -NX_Q9BQ08 11730 111 7.44 3 Secreted NA 0 PE2 -NX_Q9BQ13 29591 255 8.78 11 NA NA 0 PE1 -NX_Q9BQ15 22338 211 9.17 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BQ16 49429 436 4.79 4 Nucleolus;Nucleus;Golgi apparatus;Extracellular matrix NA 0 PE1 -NX_Q9BQ24 26506 234 8.78 14 Cytoplasmic vesicle;Cytoplasm;Endosome;Focal adhesion NA 0 PE1 -NX_Q9BQ31 56001 491 4.92 2 Cytosol;Golgi apparatus;Cell membrane NA 6 PE1 -NX_Q9BQ39 82565 737 9.26 10 Nucleolus NA 0 PE1 -NX_Q9BQ48 10165 92 12.25 19 Nucleoplasm;Cytoplasmic vesicle;Mitochondrion;Nucleus NA 0 PE1 -NX_Q9BQ49 8631 75 7.9 19 Golgi apparatus;Membrane NA 1 PE1 -NX_Q9BQ50 30621 279 6.37 X Nucleus NA 0 PE1 -NX_Q9BQ51 30957 273 8.18 9 Cytosol;Endomembrane system;Cell membrane;Secreted NA 1 PE1 -NX_Q9BQ52 92219 826 8.13 17 Nucleoplasm;Mitochondrion;Nucleus Combined oxidative phosphorylation deficiency 17;Prostate cancer, hereditary, 2 0 PE1 -NX_Q9BQ61 18419 176 9.46 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BQ65 30268 265 6.06 16 Nucleus Poikiloderma with neutropenia 0 PE1 -NX_Q9BQ66 21407 201 8.37 17 NA NA 0 PE1 -NX_Q9BQ67 49419 446 4.82 19 Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_Q9BQ69 35505 325 9.58 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BQ70 76667 676 5.96 16 Nucleus NA 0 PE1 -NX_Q9BQ75 31884 279 9.26 3 Mitochondrion;Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9BQ83 30771 275 6.59 16 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BQ87 56688 522 5.33 Y Nucleus NA 0 PE1 -NX_Q9BQ89 31271 295 10.46 20 Cytosol;Cytoplasm;Spindle pole;Cytoplasmic vesicle;Nucleus;Centrosome NA 0 PE1 -NX_Q9BQ90 43088 382 8.37 6 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9BQ95 49148 431 5.89 19 Cytosol;Nucleoplasm;Mitochondrion;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9BQA1 36724 342 5.03 1 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q9BQA5 59678 517 5.77 11 Nucleus NA 0 PE1 -NX_Q9BQA9 20774 187 6.3 17 Endoplasmic reticulum membrane;Cell junction;Cell membrane NA 1 PE1 -NX_Q9BQB4 24031 213 9.43 17 Extracellular matrix Craniodiaphyseal dysplasia autosomal dominant;Sclerosteosis 1;Van Buchem disease 0 PE1 -NX_Q9BQB6 18235 163 9.53 16 Endoplasmic reticulum membrane;Endoplasmic reticulum Combined deficiency of vitamin K-dependent clotting factors 2;Coumarin resistance 4 PE1 -NX_Q9BQC3 52083 489 5.36 1 Nucleus NA 0 PE1 -NX_Q9BQC6 12266 102 11.45 13 Mitochondrion NA 0 PE1 -NX_Q9BQD1 9856 86 8.66 5 NA NA 0 PE5 -NX_Q9BQD3 19668 176 4.79 19 Cytosol;Lysosome membrane;Centrosome;Nucleolus NA 0 PE1 -NX_Q9BQD7 25130 235 9.45 16 Cytosol;Membrane NA 1 PE1 -NX_Q9BQE3 49895 449 4.96 12 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q9BQE4 21163 189 9.72 15 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum NA 1 PE1 -NX_Q9BQE5 37092 337 6.28 22 Cytoplasm NA 0 PE1 -NX_Q9BQE6 31565 289 4.52 11 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9BQE9 22195 202 4.67 7 Nucleoplasm NA 0 PE1 -NX_Q9BQF6 119658 1050 6.19 3 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9BQG0 148855 1328 9.34 17 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9BQG1 63304 590 6.16 19 Secretory vesicle membrane;Cell membrane NA 1 PE1 -NX_Q9BQG2 52076 462 6.38 5 Nucleus;Peroxisome NA 0 PE1 -NX_Q9BQI0 17068 150 6.63 9 Cytoskeleton;Ruffle membrane NA 0 PE1 -NX_Q9BQI3 71106 630 5.68 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BQI4 30731 270 8.95 10 Cytosol;Nucleus;Endoplasmic reticulum;Secreted NA 0 PE1 -NX_Q9BQI5 89109 828 8.39 1 Mitochondrion;Cytoplasm;Clathrin-coated pit NA 0 PE1 -NX_Q9BQI6 121050 1058 8.7 5 Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q9BQI7 84660 771 5.04 5 Cleavage furrow;Ruffle membrane;Cell membrane NA 1 PE1 -NX_Q9BQI9 31331 281 8.75 12 Cytosol;Nucleus NA 0 PE1 -NX_Q9BQJ4 19998 181 6.26 X Adherens junction;Nucleus membrane;Cell membrane;Membrane NA 4 PE1 -NX_Q9BQK8 93614 851 5.35 20 Cytosol;Nucleus NA 0 PE1 -NX_Q9BQL6 77437 677 5.91 20 Cytoskeleton;Focal adhesion;Ruffle membrane Kindler syndrome 0 PE1 -NX_Q9BQM9 17214 153 11.47 20 NA NA 0 PE1 -NX_Q9BQN1 81078 747 8.28 20 NA NA 0 PE1 -NX_Q9BQP7 39421 344 7.58 20 Mitochondrion Mitochondrial DNA depletion syndrome 11 0 PE1 -NX_Q9BQP9 28436 254 6.17 20 Secreted NA 0 PE1 -NX_Q9BQQ3 46482 440 4.42 3 cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus NA 0 PE1 -NX_Q9BQQ7 27031 232 8.97 3 Mitochondrion;Membrane NA 1 PE1 -NX_Q9BQR3 31940 290 8.47 16 Secreted NA 0 PE1 -NX_Q9BQS2 47375 421 7.12 10 Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q9BQS6 17486 159 9.16 17 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BQS7 130449 1158 5.61 X Membrane NA 1 PE1 -NX_Q9BQS8 166983 1478 4.86 3 Cytoplasmic vesicle;Endosome;Autophagosome;Lysosome Cataract 18 0 PE1 -NX_Q9BQT8 33303 299 9.53 14 Mitochondrion inner membrane NA 6 PE1 -NX_Q9BQT9 106098 956 5.24 12 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane NA 1 PE1 -NX_Q9BQW3 64473 602 8.9 20 Nucleus NA 0 PE2 -NX_Q9BQY4 31692 288 4.53 X Nucleus NA 0 PE1 -NX_Q9BQY6 14626 131 8.64 20 Secreted NA 0 PE2 -NX_Q9BQY9 27671 259 4.45 20 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9BR01 33085 284 5.42 22 Cytoplasm NA 0 PE1 -NX_Q9BR09 31690 285 7.76 20 Cytoplasmic vesicle;Cytoplasm NA 0 PE2 -NX_Q9BR10 23834 227 8.59 20 Golgi apparatus;Membrane NA 1 PE1 -NX_Q9BR11 55071 485 7.05 20 Cytosol;Cell membrane NA 0 PE1 -NX_Q9BR26 61579 566 8.88 20 Membrane NA 6 PE2 -NX_Q9BR39 74222 696 8.82 20 Endoplasmic reticulum membrane;Cell membrane;Sarcoplasmic reticulum membrane Cardiomyopathy, familial hypertrophic 17 1 PE1 -NX_Q9BR46 17183 151 8.93 20 NA NA 0 PE4 -NX_Q9BR61 31151 282 5 1 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9BR76 54235 489 5.6 11 Cytosol;Cytoskeleton;Stress fiber;Cell membrane NA 0 PE1 -NX_Q9BR77 57486 488 8.91 12 Nucleus membrane NA 0 PE1 -NX_Q9BR84 62318 538 8.9 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9BRA0 13514 125 5.37 17 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BRA2 13941 123 5.4 17 Cytoplasm NA 0 PE1 -NX_Q9BRB3 84082 760 8.37 16 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus;Membrane NA 5 PE1 -NX_Q9BRC7 87585 762 5.08 2 Nucleus membrane;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleus;Cell membrane;Membrane NA 0 PE1 -NX_Q9BRD0 70521 619 9.86 11 Nucleus NA 0 PE1 -NX_Q9BRF8 35548 314 5.79 16 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9BRG1 20748 176 5.97 17 Nucleoplasm;Endosome membrane;Centrosome;Cytoplasm NA 0 PE1 -NX_Q9BRG2 63093 576 7.03 19 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q9BRH9 75763 671 9.36 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BRI3 35178 323 5.7 1 Cytoplasmic vesicle;Vacuole membrane;Lysosome membrane Zinc deficiency, transient neonatal 5 PE1 -NX_Q9BRJ2 35351 306 9.14 17 Mitochondrion NA 0 PE1 -NX_Q9BRJ6 22083 194 9.65 7 Nucleolus;Nucleus NA 0 PE1 -NX_Q9BRJ7 23338 211 9.07 16 Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q9BRJ9 28501 268 9.26 15 Nucleolus;Nucleus NA 0 PE2 -NX_Q9BRK0 28261 252 9.54 5 Membrane Spastic paraplegia 72 2 PE1 -NX_Q9BRK3 49132 442 6.75 1 Nucleolus;Membrane NA 1 PE1 -NX_Q9BRK4 72759 669 6.13 10 Cytosol;Cytoplasm;Centrosome;Cell membrane NA 0 PE1 -NX_Q9BRK5 41807 362 4.76 1 Cytoplasm;Bleb;Golgi apparatus;Cell membrane;Golgi apparatus lumen NA 0 PE1 -NX_Q9BRL6 32288 282 11.72 11 Nucleus NA 0 PE1 -NX_Q9BRL7 34269 303 5.91 3 Endoplasmic reticulum membrane;Golgi apparatus NA 4 PE1 -NX_Q9BRN9 27118 247 8.43 15 Cytosol;Nucleoplasm;Membrane NA 2 PE1 -NX_Q9BRP0 30438 275 9.02 20 Cytosol;Nucleoplasm;Nucleus Corneal dystrophy, posterior polymorphous, 1 0 PE1 -NX_Q9BRP1 39417 358 4.71 19 Mitochondrion NA 0 PE1 -NX_Q9BRP4 42190 392 5.92 11 Cytosol;Nucleus NA 0 PE1 -NX_Q9BRP7 70416 624 6.29 11 Cytosol;Nucleus NA 0 PE1 -NX_Q9BRP8 22656 204 9.45 12 Nucleolus;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Cell junction NA 0 PE1 -NX_Q9BRP9 15625 147 9.02 11 NA NA 0 PE5 -NX_Q9BRQ0 41244 406 6.89 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BRQ3 32580 303 4.99 11 Nucleoplasm NA 0 PE1 -NX_Q9BRQ4 30859 267 6.39 11 Cytoplasm;Centrosome;Cilium axoneme NA 0 PE1 -NX_Q9BRQ5 31499 295 7.21 16 Nucleoplasm;Cytosol;Membrane NA 4 PE1 -NX_Q9BRQ6 26458 235 9.01 3 Mitochondrion inner membrane;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q9BRQ8 40527 373 9.16 10 Cytosol;Cytoplasm;Mitochondrion outer membrane;Membrane NA 1 PE1 -NX_Q9BRR0 60641 538 5.98 6 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BRR3 46588 403 7.27 9 Mitochondrion;Membrane NA 3 PE1 -NX_Q9BRR6 54089 497 5.77 15 Cytoplasm;Nucleus;Centrosome;Secreted NA 0 PE1 -NX_Q9BRR8 103345 931 6.59 19 Nucleoplasm;Cell junction;Cell membrane NA 0 PE1 -NX_Q9BRR9 83260 750 8.65 12 NA NA 0 PE1 -NX_Q9BRS2 65583 568 5.84 6 Cytosol;Nucleus speckle;Nucleolus NA 0 PE1 -NX_Q9BRS8 54737 491 8.4 15 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9BRT2 14875 126 6.84 6 Mitochondrion nucleoid;Mitochondrion matrix;Nucleus;Mitochondrion intermembrane space;Mitochondrion;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 7 0 PE1 -NX_Q9BRT3 12403 115 4.4 17 Cytosol;Cell membrane NA 0 PE1 -NX_Q9BRT6 15225 129 10.38 12 Nucleolus;Chromosome NA 0 PE1 -NX_Q9BRT8 44068 395 4.76 9 NA NA 0 PE1 -NX_Q9BRT9 26047 223 4.94 8 Nucleoplasm;Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q9BRU2 12324 100 8.46 X Nucleus NA 0 PE2 -NX_Q9BRU9 28402 249 10.08 8 Nucleolus NA 0 PE1 -NX_Q9BRV3 25030 221 8.8 1 Golgi apparatus membrane;Cell membrane NA 7 PE1 -NX_Q9BRV8 23721 207 5.09 1 Cytoplasmic vesicle;Cytoplasm;Focal adhesion NA 0 PE1 -NX_Q9BRX2 43359 385 5.93 5 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9BRX5 24535 216 5.21 16 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BRX8 25764 229 8.92 10 Cytoplasm;Secreted NA 0 PE1 -NX_Q9BRX9 34343 315 5.36 19 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Centrosome NA 0 PE1 -NX_Q9BRY0 33601 314 6.39 19 Cytoplasmic vesicle;Membrane NA 8 PE1 -NX_Q9BRZ2 81488 755 8.02 7 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9BS16 31655 269 4.83 5 Kinetochore;Nucleus;Centromere NA 0 PE1 -NX_Q9BS18 8521 74 4.04 3 Mitochondrion;Cytosol;Nucleus NA 0 PE1 -NX_Q9BS26 46971 406 5.09 9 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q9BS31 57683 505 9.03 19 Nucleus NA 0 PE1 -NX_Q9BS34 44603 389 8.8 1 Cytosol;Nucleus NA 0 PE1 -NX_Q9BS40 25750 222 5.54 3 Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_Q9BS86 40142 351 9.42 7 Acrosome membrane;Secreted NA 0 PE1 -NX_Q9BS91 48500 424 8.55 3 Golgi apparatus;Membrane NA 10 PE1 -NX_Q9BS92 28313 247 9.32 9 NA NA 0 PE1 -NX_Q9BSA4 58772 534 5.48 17 Cell membrane NA 5 PE1 -NX_Q9BSA9 55615 504 7.61 4 Endosome membrane;Lysosome membrane;Nucleus;Nucleus membrane Parkinson disease 12 PE1 -NX_Q9BSB4 25003 218 5.81 12 Cytoplasm;Preautophagosomal structure NA 0 PE1 -NX_Q9BSC4 80302 688 8.64 2 Nucleolus NA 0 PE1 -NX_Q9BSD3 26709 238 9.69 12 Nucleus;Chromosome NA 0 PE1 -NX_Q9BSD7 20713 190 9.61 1 Cytosol NA 0 PE1 -NX_Q9BSE2 43520 394 4.87 1 Lysosome;Nucleolus;trans-Golgi network;Membrane NA 5 PE1 -NX_Q9BSE4 45147 406 4.93 7 Nucleolus;Membrane NA 1 PE1 -NX_Q9BSE5 37660 352 7.54 1 Mitochondrion NA 0 PE1 -NX_Q9BSF0 10970 95 4.84 2 Cell membrane NA 0 PE1 -NX_Q9BSF4 29233 260 8.29 19 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane NA 1 PE1 -NX_Q9BSF8 53779 475 7.65 11 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9BSG0 21042 188 5.23 2 Secreted NA 0 PE1 -NX_Q9BSG1 48863 426 8.91 2 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9BSG5 24615 229 8.59 19 Interphotoreceptor matrix;Endoplasmic reticulum;Cell membrane NA 0 PE1 -NX_Q9BSH3 24202 213 6.59 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BSH4 32477 297 8.37 17 Mitochondrion Leigh syndrome 0 PE1 -NX_Q9BSH5 28000 251 6.21 9 Nucleolus NA 0 PE1 -NX_Q9BSI4 50023 451 8.2 14 Nucleus;Nucleus matrix;Telomere Dyskeratosis congenita, autosomal dominant, 3;Dyskeratosis congenita, autosomal dominant, 5 0 PE1 -NX_Q9BSJ1 52285 452 5.72 11 Cytoplasmic vesicle;Nucleolus NA 0 PE2 -NX_Q9BSJ2 102534 902 6.38 10 Nucleoplasm;Centrosome NA 0 PE1 -NX_Q9BSJ5 67315 609 9.3 17 Nucleoplasm;Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q9BSJ6 27480 248 10.22 17 Nucleolus;Nucleus NA 0 PE1 -NX_Q9BSJ8 122856 1104 5.57 12 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum NA 2 PE1 -NX_Q9BSK0 18914 173 9.69 10 Cytoskeleton;Nucleus;Cell membrane NA 4 PE1 -NX_Q9BSK1 54939 485 9.39 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q9BSK2 35375 321 9.65 1 Mitochondrion inner membrane NA 6 PE1 -NX_Q9BSK4 73639 669 5.71 19 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9BSL1 45338 405 4.82 9 Cytosol;Cytoplasm;Cell membrane;Golgi apparatus NA 0 PE1 -NX_Q9BSM1 30346 259 9.14 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BSN7 24540 226 8.1 16 Adherens junction;Cell membrane NA 4 PE2 -NX_Q9BSQ5 48837 444 5.32 7 Mitochondrion;Cytoplasm Cerebral cavernous malformations 2 0 PE1 -NX_Q9BSR8 27083 244 4.5 2 Cytoplasmic vesicle;cis-Golgi network membrane;Golgi apparatus;Endoplasmic reticulum;Cell membrane NA 5 PE1 -NX_Q9BST9 62667 563 7.18 2 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q9BSU1 47524 422 7.64 16 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q9BSU3 25979 229 5.05 4 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BSV6 33652 310 8.53 19 Nucleolus;Nucleus Pontocerebellar hypoplasia 2C 0 PE1 -NX_Q9BSW2 45592 395 4.95 12 Cytoplasm NA 0 PE1 -NX_Q9BSW7 53849 474 7.23 16 Cytosol;Nucleus;Membrane NA 0 PE1 -NX_Q9BSY4 12395 110 6.28 2 Mitochondrion;Mitochondrion intermembrane space NA 0 PE1 -NX_Q9BSY9 21444 194 4.86 1 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q9BT04 45679 418 5.9 19 Cytosol;Cytoplasm;Cytoskeleton;Cilium basal body NA 0 PE1 -NX_Q9BT09 30748 278 5.36 6 Endoplasmic reticulum Epileptic encephalopathy, early infantile, 60 0 PE1 -NX_Q9BT17 37237 334 9.54 10 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_Q9BT22 52518 464 6.8 16 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1K 1 PE1 -NX_Q9BT23 14070 127 9.23 17 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BT25 44857 410 6.6 19 Cytoplasm;Spindle;Centrosome;Spindle pole NA 0 PE1 -NX_Q9BT30 24516 221 6.61 19 Mitochondrion matrix NA 0 PE1 -NX_Q9BT40 51090 448 6.07 17 Endoplasmic reticulum Muscular dystrophy, congenital, with cataracts and intellectual disability 0 PE1 -NX_Q9BT43 25334 218 4.49 1 Nucleus NA 0 PE1 -NX_Q9BT49 34414 309 9.54 22 Cytoplasmic vesicle;Nucleus;Chromosome NA 0 PE1 -NX_Q9BT56 13302 116 9.73 12 Extracellular space;Secretory vesicle;Secreted NA 0 PE1 -NX_Q9BT67 24899 221 4.55 5 Endosome membrane;Dendrite;Secreted;Golgi apparatus membrane;Synaptosome NA 3 PE1 -NX_Q9BT73 13104 122 7.72 7 Cytoplasm NA 0 PE1 -NX_Q9BT76 33882 320 6.33 7 Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane NA 1 PE1 -NX_Q9BT78 46269 406 5.57 4 Cytoplasm;Synaptic vesicle;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9BT81 42197 388 6.2 8 Cytoplasm;Nucleus;Golgi apparatus;Nucleus speckle NA 0 PE1 -NX_Q9BT88 48297 431 9.15 1 Synaptic vesicle membrane;Synapse;Membrane NA 1 PE1 -NX_Q9BT92 61072 498 6.2 12 Cytosol;Cytoplasm;Cell membrane;Desmosome;Mitochondrion;Cytoskeleton;Centrosome NA 0 PE1 -NX_Q9BTA0 18414 163 5.28 1 Cytoskeleton NA 0 PE1 -NX_Q9BTA9 70724 647 9.49 10 Nucleoplasm;Nucleus speckle;Nucleus DeSanto-Shinawi syndrome 0 PE1 -NX_Q9BTC0 243873 2240 8.09 20 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm;Nucleus;Spindle NA 0 PE1 -NX_Q9BTC8 67504 594 8.8 2 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9BTD1 13317 123 9.49 11 NA NA 0 PE5 -NX_Q9BTD3 35814 319 9.39 14 Cytosol;Membrane NA 7 PE2 -NX_Q9BTD8 50414 480 9.65 19 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BTE0 23361 207 4.67 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BTE1 20127 182 8.32 16 Kinetochore;Nucleoplasm;Cytoskeleton;Nucleus membrane NA 0 PE1 -NX_Q9BTE3 72980 642 5.56 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BTE6 45480 412 6 17 Cytosol;Cytoplasm;Nucleus membrane NA 0 PE1 -NX_Q9BTE7 27508 237 5.44 11 Nucleolus;Nucleus NA 0 PE1 -NX_Q9BTF0 56433 503 7.92 2 Nucleoplasm NA 0 PE1 -NX_Q9BTK2 4916 45 11.19 X NA NA 0 PE5 -NX_Q9BTK6 27716 254 4.4 16 Nucleus NA 0 PE1 -NX_Q9BTL3 14381 118 8.89 15 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BTL4 24196 223 6.46 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BTM1 14019 129 10.9 12 Nucleus;Chromosome NA 0 PE1 -NX_Q9BTM9 11380 101 4.54 9 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9BTN0 66260 628 6.88 19 Synapse;Cell membrane;Axon;Dendrite;Postsynaptic cell membrane;Presynaptic cell membrane NA 1 PE1 -NX_Q9BTP6 25122 218 6.57 3 Mitochondrion;Cytosol;Nucleus NA 0 PE1 -NX_Q9BTP7 23897 215 9.28 19 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9BTT0 30692 268 3.77 1 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BTT4 15688 135 5.82 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BTT6 59242 524 4.94 6 Cytosol;Cytoplasm;Membrane NA 0 PE1 -NX_Q9BTU6 54022 479 8.51 10 Synaptosome;Endosome;trans-Golgi network membrane;Cell membrane;Cytoplasmic vesicle;Dendrite;Presynaptic cell membrane;Membrane;Mitochondrion;Membrane raft NA 0 PE1 -NX_Q9BTV4 44876 400 7.86 3 Nucleus inner membrane;Endoplasmic reticulum;Golgi apparatus Arrhythmogenic right ventricular dysplasia, familial, 5;Emery-Dreifuss muscular dystrophy 7, autosomal dominant 4 PE1 -NX_Q9BTV5 55820 496 6.54 19 Cytoplasm;Nucleus;Centrosome;Cleavage furrow NA 0 PE1 -NX_Q9BTV6 50575 452 6.11 9 Nucleus NA 0 PE1 -NX_Q9BTV7 52235 478 9.84 20 Nucleus;Cell junction NA 0 PE1 -NX_Q9BTW9 132600 1192 5.8 17 Cytoplasm;Lateral cell membrane;Centrosome;Tight junction;Adherens junction Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 0 PE1 -NX_Q9BTX1 76305 674 9.22 1 Cytoskeleton;Cell membrane;Nucleus membrane;Nuclear pore complex NA 6 PE1 -NX_Q9BTX3 19642 173 9.33 16 Endoplasmic reticulum membrane NA 3 PE1 -NX_Q9BTX7 38515 342 6.03 20 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q9BTY2 54067 467 5.84 6 Secreted NA 0 PE1 -NX_Q9BTY7 42129 390 4.73 8 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9BTZ2 29537 278 8.81 14 Nucleus;Peroxisome NA 0 PE1 -NX_Q9BU02 25566 230 4.75 14 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9BU19 56968 519 7.54 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q9BU20 28498 258 7.06 1 Nucleoplasm;Cilium basal body NA 0 PE1 -NX_Q9BU23 79698 707 10.1 22 Endoplasmic reticulum membrane;Centrosome;Endoplasmic reticulum NA 11 PE1 -NX_Q9BU40 51168 450 8.52 X Secreted Megalocornea 1, X-linked 0 PE1 -NX_Q9BU61 20350 184 8.48 3 Nucleus;Mitochondrion inner membrane Mitochondrial complex I deficiency 0 PE1 -NX_Q9BU64 33786 300 7.63 2 Kinetochore;Centromere;Nucleus NA 0 PE1 -NX_Q9BU68 11705 103 9.49 17 Cytosol NA 0 PE1 -NX_Q9BU70 48587 441 6.74 9 Nucleoplasm NA 0 PE1 -NX_Q9BU76 29412 263 10.03 1 Cytosol;Nucleus speckle;Cell membrane NA 0 PE1 -NX_Q9BU79 13391 118 8.4 7 Membrane NA 3 PE1 -NX_Q9BU89 32904 302 4.74 19 Cytosol;Nucleus NA 0 PE1 -NX_Q9BUA3 41037 381 4.92 11 Nucleus speckle NA 0 PE1 -NX_Q9BUA6 25308 226 5.56 7 Mitochondrion NA 0 PE1 -NX_Q9BUB4 55392 502 9.2 16 Nucleoplasm NA 0 PE1 -NX_Q9BUB5 51342 465 6.26 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BUB7 28969 260 9.02 8 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane Mitochondrial complex V deficiency, nuclear type 2 2 PE1 -NX_Q9BUD6 35846 331 5.35 4 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_Q9BUE0 23663 208 6.06 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BUE6 14179 129 9.19 9 Mitochondrion Multiple mitochondrial dysfunctions syndrome 5 0 PE1 -NX_Q9BUF5 49857 446 4.77 18 Cytoskeleton Facial palsy, congenital, with ptosis and velopharyngeal dysfunction 0 PE1 -NX_Q9BUF7 12854 120 9.96 19 Apical cell membrane;Cell junction;Tight junction NA 1 PE1 -NX_Q9BUG6 55865 496 8.7 19 Nucleus NA 0 PE1 -NX_Q9BUH6 21640 204 5.39 9 Nucleus NA 0 PE1 -NX_Q9BUH8 64803 593 5.4 14 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Membrane NA 0 PE1 -NX_Q9BUI4 60612 534 6.88 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BUJ0 29765 271 8.74 3 Cytoplasmic vesicle;Cytoplasm;Endoplasmic reticulum;Membrane NA 1 PE1 -NX_Q9BUJ2 95739 856 6.49 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BUK0 10095 85 9.1 8 Cell junction;Mitochondrion intermembrane space NA 0 PE1 -NX_Q9BUK6 61835 570 5.7 1 Cytosol;Cytoplasm;Nucleus;Nucleus membrane;Mitochondrion outer membrane Myopathy, mitochondrial, and ataxia 0 PE1 -NX_Q9BUL5 43818 403 5.62 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BUL8 24702 212 7.8 3 Cytoplasm;Golgi apparatus membrane;Cell membrane Cerebral cavernous malformations 3 0 PE1 -NX_Q9BUL9 20632 199 9.66 15 Nucleoplasm;Nucleus;Microtubule organizing center NA 0 PE1 -NX_Q9BUM1 38735 346 8.47 17 Endoplasmic reticulum membrane;Endoplasmic reticulum Neutropenia, severe congenital 4, autosomal recessive;Dursun syndrome 9 PE1 -NX_Q9BUN1 36769 341 8.96 1 Secreted NA 0 PE1 -NX_Q9BUN5 22037 200 5.23 1 Centrosome Bardet-Biedl syndrome 0 PE1 -NX_Q9BUN8 28801 251 9.54 8 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 4 PE1 -NX_Q9BUP0 26928 239 5.34 2 Nucleolus;Mitochondrion inner membrane;Golgi apparatus NA 0 PE1 -NX_Q9BUP3 27049 242 8.58 11 Cytosol;Cytoplasm;Nucleus envelope NA 0 PE1 -NX_Q9BUQ8 95583 820 9.58 12 Nucleolus;Nucleus NA 0 PE1 -NX_Q9BUR4 59309 548 4.46 17 Cajal body;Nucleoplasm;Telomere;Cytosol;Nucleus;Chromosome Dyskeratosis congenita, autosomal recessive, 3 0 PE1 -NX_Q9BUR5 22285 198 9.18 X Endoplasmic reticulum membrane;Secreted;Cytosol;Golgi apparatus membrane;Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_Q9BUT1 26724 245 7.56 4 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9BUT9 17828 160 9.5 16 Stress granule;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BUU2 44486 404 4.9 16 Nucleolus;Nucleus NA 0 PE1 -NX_Q9BUV0 33613 290 11.76 1 Nucleoplasm NA 0 PE1 -NX_Q9BUV8 15487 137 5.06 20 Cytosol NA 0 PE1 -NX_Q9BUW7 9054 83 4.13 9 Cytoskeleton NA 0 PE1 -NX_Q9BUX1 24418 222 5.05 15 Cytosol;trans-Golgi network NA 0 PE1 -NX_Q9BUY5 63106 554 7.96 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BUY7 19225 163 8.59 14 Cytosol;Cell junction NA 0 PE1 -NX_Q9BUZ4 53543 470 8.54 17 Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Cytoskeleton;Tight junction NA 0 PE1 -NX_Q9BV10 54655 488 9.63 22 Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1G 12 PE1 -NX_Q9BV19 21877 199 5.54 1 NA NA 0 PE1 -NX_Q9BV20 39150 369 5.89 19 Nucleolus;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Cell projection NA 0 PE1 -NX_Q9BV23 38331 337 8.67 3 Mitochondrion;Nucleoplasm;Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q9BV29 20656 185 4.42 15 Cytoplasmic vesicle;Nucleus speckle NA 0 PE1 -NX_Q9BV35 52378 468 6.85 19 Mitochondrion;Mitochondrion inner membrane NA 6 PE1 -NX_Q9BV36 65949 600 5.73 2 Cytoplasm Griscelli syndrome 3 0 PE1 -NX_Q9BV38 47405 432 6.21 19 Nucleoplasm;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q9BV40 11438 100 6.73 2 Late endosome membrane;Lysosome membrane;Early endosome membrane;Cell membrane NA 1 PE1 -NX_Q9BV44 57003 507 5.97 3 Cytosol;Nucleolus NA 0 PE1 -NX_Q9BV47 23946 211 9.66 8 Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9BV57 21498 179 5.43 2 Nucleoplasm;Cytoplasm;Nucleus;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q9BV68 35585 326 5.44 19 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9BV73 281137 2442 5 20 Centriole;Perinuclear region;Centrosome;Cilium basal body NA 0 PE1 -NX_Q9BV79 40462 373 8.99 1 Mitochondrion;Cytoplasm;Nucleus Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 PE1 -NX_Q9BV81 12017 110 10.08 17 Nucleus;Centrosome;Membrane NA 2 PE1 -NX_Q9BV86 25387 223 5.32 9 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9BV87 45456 410 5.47 2 Membrane NA 1 PE2 -NX_Q9BV90 15270 132 7.75 16 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9BV94 64753 578 5.16 20 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q9BV97 20610 191 10.78 16 NA NA 0 PE1 -NX_Q9BV99 28014 259 4.69 7 Nucleoplasm NA 0 PE1 -NX_Q9BVA0 72334 655 7.51 16 Cytosol;Cytoplasm;Cell membrane;Spindle pole;Centrosome;Cytoskeleton;Spindle Lissencephaly 6, with microcephaly 0 PE1 -NX_Q9BVA1 49953 445 4.78 6 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 7;Fetal akinesia deformation sequence 0 PE1 -NX_Q9BVA6 51778 458 7.31 12 Endoplasmic reticulum membrane;Nucleus NA 1 PE1 -NX_Q9BVC3 44825 393 5.05 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BVC4 35876 326 5.5 16 Nucleoplasm;Cytoplasm;Cell junction;Golgi apparatus NA 0 PE1 -NX_Q9BVC5 25858 232 9.76 2 Mitochondrion;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9BVC6 26210 243 10.48 11 Endoplasmic reticulum membrane;Cytosol;Sarcoplasmic reticulum membrane;Nucleus membrane;Nucleus outer membrane NA 3 PE1 -NX_Q9BVG3 54268 475 6.17 1 Cytoplasmic vesicle;Cytoplasm;Focal adhesion NA 0 PE1 -NX_Q9BVG4 26057 233 4.72 X Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9BVG8 92775 833 7.62 16 Adherens junction;Cytoplasmic vesicle membrane;Centrosome NA 0 PE1 -NX_Q9BVG9 56253 487 5.86 11 Endoplasmic reticulum membrane NA 7 PE1 -NX_Q9BVH7 38443 336 9.56 1 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 -NX_Q9BVI0 115386 1012 6.55 20 Nucleoplasm;Cytosol;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9BVI4 58468 516 7.08 12 Nucleolus;Nucleus;Nucleus membrane NA 3 PE1 -NX_Q9BVJ6 87978 771 7.67 X Nucleolus NA 0 PE1 -NX_Q9BVJ7 16588 150 8.44 1 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BVK2 60088 526 9.28 11 Endoplasmic reticulum membrane;Nucleoplasm Polycystic liver disease 3 with or without kidney cysts;Congenital disorder of glycosylation 1H 11 PE1 -NX_Q9BVK6 27277 235 7.81 5 Endoplasmic reticulum membrane;cis-Golgi network membrane;trans-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE1 -NX_Q9BVK8 25261 224 7.61 19 Endoplasmic reticulum membrane;Cytosol;Cytoskeleton;Golgi apparatus NA 6 PE1 -NX_Q9BVL2 60897 599 9.36 13 Mitochondrion;Cytosol;Nuclear pore complex;Cell membrane;Nucleus membrane NA 0 PE1 -NX_Q9BVL4 73489 669 5.69 22 Mitochondrion NA 0 PE1 -NX_Q9BVM2 23240 203 9.11 10 Nucleus speckle NA 0 PE1 -NX_Q9BVM4 17329 153 6.37 13 NA NA 0 PE1 -NX_Q9BVN2 96444 902 5.9 1 Golgi apparatus;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Early endosome;Postsynaptic density;Cytoskeleton NA 0 PE1 -NX_Q9BVP2 61993 549 9.23 3 Nucleolus;Nucleus NA 0 PE1 -NX_Q9BVQ7 80710 753 8.42 15 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9BVR0 128943 1158 6.45 15 NA NA 0 PE5 -NX_Q9BVS4 63283 552 5.66 5 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9BVS5 52965 477 6.17 2 Mitochondrion;Cytosol NA 0 PE1 -NX_Q9BVT8 26261 246 5.44 7 Nucleolus;Cytosol;Cytoplasm;Nucleoplasm;Postsynaptic cell membrane;Membrane;Nucleus;Recycling endosome;Centrosome NA 3 PE1 -NX_Q9BVV2 36526 318 8.82 20 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9BVV6 169307 1533 5.37 14 Cytosol;Centriole;Nucleoplasm;Photoreceptor inner segment;Centrosome;Cilium basal body Short-rib thoracic dysplasia 14 with polydactyly;Joubert syndrome 23 0 PE1 -NX_Q9BVV7 28202 248 9.73 18 Nucleoplasm;Mitochondrion membrane NA 1 PE1 -NX_Q9BVV8 14249 132 9.23 19 Nucleus speckle;Golgi apparatus;Membrane NA 1 PE1 -NX_Q9BVW5 34555 301 4.73 15 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BVW6 9520 85 5.19 13 Membrane NA 1 PE1 -NX_Q9BVX2 27875 250 6.3 12 Endoplasmic reticulum membrane;Membrane NA 2 PE1 -NX_Q9BW04 63964 601 8.78 1 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9BW11 23477 206 9.32 5 Nucleolus;Nucleus NA 0 PE1 -NX_Q9BW19 73748 673 9.15 6 Spindle;Nucleus;Centrosome;Early endosome NA 0 PE1 -NX_Q9BW27 75019 656 5.36 17 Kinetochore;Nucleus membrane;Cytosol;Cytoplasm;Nuclear pore complex;Nucleus;Spindle NA 0 PE1 -NX_Q9BW30 18985 176 9.19 16 Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q9BW60 32663 279 9.62 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 7 PE1 -NX_Q9BW61 11835 102 8.73 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q9BW62 55392 490 6.35 13 Cytoskeleton;Cytosol;Cytoplasm;Nucleoplasm;Spindle;Spindle pole NA 0 PE1 -NX_Q9BW66 24324 212 5.87 14 Nucleus NA 0 PE1 -NX_Q9BW71 61957 556 8.71 16 Nucleus NA 0 PE1 -NX_Q9BW72 11529 106 10.21 5 Mitochondrion inner membrane;Mitochondrion membrane NA 2 PE1 -NX_Q9BW83 20480 186 5.28 22 Nucleoplasm;Cytoplasm;Mitochondrion;Flagellum;Cilium Bardet-Biedl syndrome 19 0 PE1 -NX_Q9BW85 37086 323 5.75 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BW91 39125 350 8.26 4 Mitochondrion NA 0 PE1 -NX_Q9BW92 81036 718 6.9 1 Mitochondrion matrix;Nucleoplasm;Cytoskeleton;Cytosol Combined oxidative phosphorylation deficiency 21 0 PE1 -NX_Q9BWC9 32032 280 9.47 19 Cytosol;Nucleus NA 0 PE1 -NX_Q9BWD1 41351 397 6.47 6 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BWD3 13188 113 4.94 X NA NA 0 PE1 -NX_Q9BWE0 63575 567 10.05 7 Nucleus NA 0 PE1 -NX_Q9BWF2 53294 469 8.75 3 Nucleolus;Cytosol;Cytoplasm;Cell membrane;Perinuclear region;Nucleus Seckel syndrome 9 0 PE1 -NX_Q9BWF3 40314 364 6.61 11 Cytoplasmic granule;Nucleolus;Nucleus;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q9BWG4 39388 385 6.3 19 Nucleus NA 0 PE1 -NX_Q9BWG6 25949 230 9.03 1 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9BWH2 20676 189 9.74 X Mitochondrion NA 0 PE1 -NX_Q9BWH6 152755 1393 5.95 15 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BWJ2 6658 59 6.1 8 NA NA 0 PE5 -NX_Q9BWJ5 10135 86 5.89 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BWK5 16829 157 5.16 7 Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9BWL3 28779 253 9.61 1 Membrane NA 1 PE1 -NX_Q9BWM5 67188 594 8.33 19 Cytosol;Nucleus NA 0 PE1 -NX_Q9BWM7 35503 321 9.26 10 Mitochondrion;Mitochondrion membrane NA 4 PE1 -NX_Q9BWN1 64328 585 10.35 16 Nucleoplasm;Nucleus;Chromosome;Nucleus lamina NA 0 PE1 -NX_Q9BWP8 28665 271 5.26 2 Secreted 3MC syndrome 2 0 PE1 -NX_Q9BWQ6 35151 316 5.43 19 Mitochondrion;cis-Golgi network membrane;Late endosome membrane;trans-Golgi network membrane;Golgi apparatus NA 5 PE1 -NX_Q9BWQ8 35110 316 6.06 12 Cytoskeleton;Postsynaptic cell membrane;Membrane raft;Cell membrane NA 7 PE1 -NX_Q9BWS9 44941 393 8.74 11 Nucleoplasm;Cytoskeleton;Lysosome;Secreted NA 0 PE1 -NX_Q9BWT1 42573 371 9.57 2 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Immunodeficiency-centromeric instability-facial anomalies syndrome 3 0 PE1 -NX_Q9BWT3 82803 736 9.21 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BWT6 23753 205 8.28 4 Nucleus NA 0 PE1 -NX_Q9BWT7 115931 1032 5.74 22 Cytosol;Cytoplasm;Cytoskeleton;Cytoplasmic vesicle NA 0 PE1 -NX_Q9BWU0 88814 796 5.11 2 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q9BWU1 56802 502 8.66 6 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9BWV1 121059 1114 6.58 3 Nucleoplasm;Cell membrane NA 1 PE1 -NX_Q9BWV2 28740 254 9.53 5 Mitochondrion;Membrane NA 1 PE1 -NX_Q9BWV3 58455 514 8.34 13 Nucleoplasm NA 0 PE1 -NX_Q9BWV7 67336 592 9 6 Nucleolus;Nucleus membrane NA 0 PE1 -NX_Q9BWW4 40421 388 6.4 1 Nucleus NA 0 PE1 -NX_Q9BWW7 35570 348 9.56 8 Nucleus NA 0 PE1 -NX_Q9BWW8 38128 343 8.58 22 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9BWW9 47044 433 9.39 22 Cytoplasm NA 0 PE2 -NX_Q9BWX1 43767 381 8.58 3 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9BWX5 41299 397 9.17 20 Nucleoplasm;Cytosol;Nucleus Congenital heart defects, multiple types, 5 0 PE1 -NX_Q9BX10 65768 602 8.32 6 Cytoplasmic vesicle;Cytoplasm Jaberi-Elahi syndrome 0 PE1 -NX_Q9BX26 175639 1530 9.01 20 Cytosol;Nucleoplasm;Nucleus;Cell membrane;Chromosome NA 0 PE1 -NX_Q9BX40 42071 385 9.69 20 Cytoplasmic vesicle;Nucleolus NA 0 PE1 -NX_Q9BX46 24776 236 8.52 6 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9BX51 24274 225 5 20 NA NA 0 PE2 -NX_Q9BX59 50183 468 5.12 12 Endoplasmic reticulum membrane;Microsome membrane;Golgi apparatus membrane;Cell membrane NA 1 PE1 -NX_Q9BX63 140867 1249 6.49 17 Cytoplasm;Nucleus;Nucleus membrane Fanconi anemia complementation group J;Breast cancer 0 PE1 -NX_Q9BX66 142513 1292 6.4 10 Cell membrane;Focal adhesion;Nucleus;Nucleus matrix;Adherens junction;Cytoskeleton;Centrosome NA 0 PE1 -NX_Q9BX67 35020 310 7.53 11 Golgi apparatus;Secreted;Cell membrane;Desmosome;Cell junction;Tight junction Hemorrhagic destruction of the brain with subependymal calcification and cataracts 1 PE1 -NX_Q9BX68 17162 163 9.2 9 Mitochondrion NA 0 PE1 -NX_Q9BX69 116468 1037 5.98 5 Cytosol;Focal adhesion NA 0 PE1 -NX_Q9BX70 55931 525 5.63 19 Cytoplasm NA 0 PE1 -NX_Q9BX73 22871 214 4.83 8 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Membrane NA 2 PE1 -NX_Q9BX74 22327 207 6.09 1 Membrane NA 2 PE1 -NX_Q9BX79 73503 667 9.18 15 Cytosol;Nucleus;Cell membrane Microphthalmia, syndromic, 9 9 PE1 -NX_Q9BX82 73009 626 8.88 19 Nucleus NA 0 PE1 -NX_Q9BX84 231708 2022 7.86 9 Cell membrane Hypomagnesemia 1 6 PE1 -NX_Q9BX93 21659 195 5.75 10 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q9BX95 49108 441 9.08 14 Endoplasmic reticulum membrane;Nucleus;Cell membrane NA 9 PE1 -NX_Q9BX97 50594 442 9.01 19 Caveola;Perinuclear region;Cell membrane NA 1 PE1 -NX_Q9BXA5 38698 334 9.14 3 Cell membrane NA 7 PE1 -NX_Q9BXA6 30331 273 9.24 19 NA NA 0 PE1 -NX_Q9BXA7 41618 367 7.6 5 Cytoplasm;Flagellum;Acrosome NA 0 PE1 -NX_Q9BXA9 135346 1300 6.56 18 Nucleus NA 0 PE1 -NX_Q9BXB1 104475 951 5.78 11 Cell membrane;Microtubule organizing center Osteoporosis 7 PE1 -NX_Q9BXB4 83643 747 6.6 3 Nucleoplasm;Late endosome membrane;trans-Golgi network membrane;Golgi apparatus NA 0 PE1 -NX_Q9BXB5 83970 764 8.56 3 Cytosol;Cytoskeleton;Cell membrane;Golgi apparatus NA 0 PE1 -NX_Q9BXB7 65263 569 9.21 3 Golgi apparatus Spermatogenic failure 6 0 PE1 -NX_Q9BXC0 39295 346 9.14 12 Cell membrane NA 7 PE1 -NX_Q9BXC1 38503 333 8.73 X Cytoplasmic vesicle;Cell membrane NA 7 PE2 -NX_Q9BXC9 79871 721 5.74 16 Cytoplasm;Centriolar satellite;Cilium membrane Retinitis pigmentosa 74;Bardet-Biedl syndrome 2 0 PE1 -NX_Q9BXD5 35163 320 5.4 1 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9BXE9 34713 311 9.83 16 Cell membrane NA 7 PE2 -NX_Q9BXF3 164213 1484 6.51 22 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9BXF6 70415 653 9.28 2 Recycling endosome membrane;Cytoplasm;Early endosome membrane;Microtubule organizing center;Cytoplasmic vesicle;Golgi apparatus membrane;Secretory vesicle membrane;Mitochondrion membrane NA 0 PE1 -NX_Q9BXF9 56636 490 6.93 17 Acrosome outer membrane;Flagellum NA 0 PE1 -NX_Q9BXG8 49445 430 7.21 5 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BXH1 20532 193 9.09 19 Mitochondrion;Cytosol NA 0 PE1 -NX_Q9BXI2 32580 301 9.22 5 Mitochondrion inner membrane NA 6 PE1 -NX_Q9BXI3 41021 368 6.11 1 Cytoplasm NA 0 PE1 -NX_Q9BXI6 57118 508 8.69 22 Microvillus;Cell membrane NA 0 PE1 -NX_Q9BXI9 30861 278 5.92 22 Nucleus;Secreted NA 0 PE1 -NX_Q9BXJ0 25298 243 6.05 11 Secreted Late-onset retinal degeneration 0 PE1 -NX_Q9BXJ1 31743 281 6.42 17 Secreted NA 0 PE1 -NX_Q9BXJ2 30683 289 5.11 4 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q9BXJ3 35256 329 8.38 11 Secreted NA 0 PE1 -NX_Q9BXJ4 26994 246 6.04 5 Golgi apparatus;Secreted NA 0 PE1 -NX_Q9BXJ5 29952 285 9.04 5 Secreted NA 0 PE1 -NX_Q9BXJ7 47754 453 5.76 14 Endosome;Coated pit;Apical cell membrane;Cell membrane Recessive hereditary megaloblastic anemia 1 1 PE1 -NX_Q9BXJ8 40610 343 9.14 7 Nucleus inner membrane NA 5 PE1 -NX_Q9BXJ9 101272 866 7.23 4 Cytosol;Cytoplasm;Nucleus Mental retardation, autosomal dominant 50 0 PE1 -NX_Q9BXK1 25431 252 9.95 19 Nucleus NA 0 PE1 -NX_Q9BXK5 52723 485 4.41 22 Mitochondrion;Nucleus;Mitochondrion membrane NA 1 PE1 -NX_Q9BXL5 55341 484 4.82 9 Nucleus NA 0 PE1 -NX_Q9BXL6 113270 1004 5.65 17 Cytoplasm Psoriasis 2;Pityriasis rubra pilaris 0 PE1 -NX_Q9BXL7 133284 1154 5.78 7 Cytoplasm;Membrane raft Immunodeficiency 11 A;B-cell expansion with NFKB and T-cell anergy;Immunodeficiency 11B with atopic dermatitis 0 PE1 -NX_Q9BXL8 26114 241 4.86 14 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9BXM0 154905 1461 7.22 19 Golgi apparatus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Cell junction Charcot-Marie-Tooth disease 4F;Dejerine-Sottas syndrome 0 PE1 -NX_Q9BXM7 62769 581 9.43 1 Cytosol;Mitochondrion inner membrane;Mitochondrion outer membrane Parkinson disease 6 1 PE1 -NX_Q9BXM9 59578 530 5.86 9 Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9BXN1 43417 380 6.61 9 Nucleoplasm;Extracellular matrix Intervertebral disc disease;Osteoarthritis 3 0 PE1 -NX_Q9BXN2 27627 247 5.21 12 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Nucleoplasm Candidiasis, familial, 4 1 PE1 -NX_Q9BXN6 11029 97 5.87 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BXP2 96110 914 8.35 7 Cell membrane NA 12 PE1 -NX_Q9BXP5 100666 876 5.7 7 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9BXP8 198539 1791 5.26 1 Cytoplasmic vesicle;Endoplasmic reticulum;Secreted NA 0 PE1 -NX_Q9BXQ6 58425 578 9.35 22 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q9BXR0 44048 403 6.82 19 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA 0 PE1 -NX_Q9BXR3 107688 956 9.07 7 NA NA 0 PE2 -NX_Q9BXR5 94564 811 6.32 4 Membrane NA 1 PE1 -NX_Q9BXR6 64419 569 6.81 1 Secreted CFHR5 deficiency 0 PE1 -NX_Q9BXS0 64771 654 8.6 4 Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum;Membrane Fibrosis of extraocular muscles, congenital, 5 1 PE1 -NX_Q9BXS1 26753 227 6.01 10 Peroxisome NA 0 PE1 -NX_Q9BXS4 36223 323 5 1 Late endosome membrane;Lysosome membrane;Golgi apparatus membrane;Cell membrane NA 1 PE1 -NX_Q9BXS5 48587 423 6.82 19 Clathrin-coated vesicle membrane;Golgi apparatus NA 0 PE1 -NX_Q9BXS6 49452 441 9.92 15 Cytoplasm;Spindle;Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_Q9BXS9 82967 759 8.57 3 Apical cell membrane;Basolateral cell membrane;Cytosol;Microsome;Cell membrane;Membrane;Cytoplasmic vesicle membrane NA 8 PE1 -NX_Q9BXT2 28129 260 9.4 19 Cytosol;Nucleolus;Cell membrane NA 4 PE1 -NX_Q9BXT4 132024 1180 5.96 10 Cytoplasm NA 0 PE1 -NX_Q9BXT5 315336 2789 5.81 8 Cytoplasm;Nucleus;Nucleus speckle Spermatogenic failure 25 0 PE1 -NX_Q9BXT6 135293 1211 6.07 22 Cytoplasm NA 0 PE1 -NX_Q9BXT8 184643 1623 5.27 13 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BXU0 14107 123 5.22 11 NA NA 0 PE1 -NX_Q9BXU1 115694 1019 5.04 7 NA NA 0 PE1 -NX_Q9BXU2 33967 312 5.79 X NA NA 0 PE1 -NX_Q9BXU3 45583 409 5.36 X NA NA 0 PE1 -NX_Q9BXU7 104047 913 8.91 X Nucleus NA 0 PE1 -NX_Q9BXU8 21142 183 6.05 X NA NA 0 PE1 -NX_Q9BXU9 24837 219 4.76 7 Cytoplasmic vesicle;Perinuclear region;trans-Golgi network membrane;Cell membrane NA 1 PE2 -NX_Q9BXV9 10859 100 4.08 14 Nucleolus;Nucleus NA 0 PE1 -NX_Q9BXW3 6988 62 4.63 1 NA NA 0 PE5 -NX_Q9BXW4 16852 147 9.14 1 Cytosol;Autophagosome membrane;Cytoskeleton;Autophagosome;Endomembrane system NA 0 PE1 -NX_Q9BXW6 108470 950 5.96 18 Cytosol;Nucleoplasm;Late endosome NA 0 PE1 -NX_Q9BXW7 46321 423 8.38 22 Mitochondrion NA 0 PE1 -NX_Q9BXW9 164128 1451 5.58 3 Cytosol;Nucleolus;Nucleus Fanconi anemia complementation group D2 0 PE1 -NX_Q9BXX0 115687 1053 6.04 18 Extracellular matrix NA 0 PE1 -NX_Q9BXX2 158049 1392 6.01 18 NA NA 0 PE2 -NX_Q9BXX3 158835 1397 6.08 10 NA NA 0 PE1 -NX_Q9BXY0 35369 300 5.27 8 Cytoplasmic vesicle;Nucleolus NA 0 PE1 -NX_Q9BXY4 30929 272 9.53 6 Secreted NA 0 PE1 -NX_Q9BXY5 63835 557 8.87 12 Nucleolus;Nucleus;Centrosome NA 0 PE2 -NX_Q9BXY8 15321 128 5.89 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BY07 126255 1137 8.1 2 Apical cell membrane NA 12 PE1 -NX_Q9BY08 23204 206 5.91 13 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 4 PE1 -NX_Q9BY10 51067 475 9.18 9 Cell membrane NA 12 PE2 -NX_Q9BY11 50966 444 5.15 6 Synaptosome;Synapse;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Ruffle membrane;Membrane;Cytoplasmic vesicle membrane;Cell projection NA 0 PE1 -NX_Q9BY12 158287 1400 7.21 15 Cytosol;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q9BY14 26667 249 4.9 19 Cytoplasmic vesicle;Cell membrane;Membrane raft;Acrosome;Secreted NA 0 PE1 -NX_Q9BY15 72621 652 8.41 19 Cell membrane;Secreted NA 7 PE1 -NX_Q9BY19 26290 250 5.76 11 Membrane NA 4 PE2 -NX_Q9BY21 41436 358 9.55 3 Mitochondrion;Nucleoplasm;Lipid droplet;Cell membrane NA 7 PE2 -NX_Q9BY27 24932 220 7.02 22 Nucleus NA 0 PE1 -NX_Q9BY31 105251 904 8.91 3 Nucleus NA 0 PE1 -NX_Q9BY32 21446 194 5.5 20 Cytosol;Cytoplasm Inosine triphosphate pyrophosphohydrolase deficiency;Epileptic encephalopathy, early infantile, 35 0 PE1 -NX_Q9BY41 41758 377 5.36 X Cytoplasm;Nucleus;Cell membrane Wilson-Turner X-linked mental retardation syndrome;Cornelia de Lange syndrome 5 0 PE1 -NX_Q9BY42 33887 306 8.87 20 Nucleolus;Nucleus NA 0 PE1 -NX_Q9BY43 25098 222 4.65 14 Cytoplasmic vesicle membrane;Late endosome membrane NA 0 PE1 -NX_Q9BY44 64990 585 9 3 Cytosol;Mitochondrion NA 0 PE1 -NX_Q9BY49 32544 303 8.97 2 Peroxisome NA 0 PE1 -NX_Q9BY50 21542 192 9.2 18 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_Q9BY60 13976 117 8.71 15 Autophagosome membrane;Cytoskeleton NA 0 PE2 -NX_Q9BY64 60906 529 8.84 4 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_Q9BY65 11990 106 7.72 3 NA NA 0 PE4 -NX_Q9BY66 174073 1539 5.59 Y Nucleolus;Nucleus NA 0 PE1 -NX_Q9BY67 48509 442 4.94 11 Synapse;Cell junction;Cell membrane NA 1 PE1 -NX_Q9BY71 28108 257 6.45 21 Membrane NA 1 PE1 -NX_Q9BY76 45214 406 9.07 19 Cytoplasmic vesicle;Nucleoplasm;Secreted;Extracellular matrix NA 0 PE1 -NX_Q9BY77 46089 421 10 22 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9BY78 47737 433 8.86 11 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cytosol;Nucleoplasm NA 5 PE1 -NX_Q9BY79 62212 579 4.84 11 Apical cell membrane Microphthalmia, isolated, 5;Nanophthalmos 2 1 PE1 -NX_Q9BY84 73102 665 7.24 12 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9BY89 196711 1806 8.69 22 Cytoskeleton NA 0 PE1 -NX_Q9BYB0 184667 1731 8.99 22 Postsynaptic density;Dendritic spine;Cytoplasm Phelan-McDermid syndrome;Schizophrenia 15 0 PE1 -NX_Q9BYB4 35618 327 8.27 22 Cytosol NA 0 PE1 -NX_Q9BYC2 56140 517 6.73 1 Mitochondrion NA 0 PE1 -NX_Q9BYC5 66516 575 7.36 14 Cytosol;Golgi stack membrane;Golgi apparatus Congenital disorder of glycosylation with defective fucosylation 1 PE1 -NX_Q9BYC8 21405 188 9.78 7 Mitochondrion NA 0 PE1 -NX_Q9BYC9 17443 149 10.87 1 Mitochondrion NA 0 PE1 -NX_Q9BYD1 20692 178 9.18 8 Mitochondrion NA 0 PE1 -NX_Q9BYD2 30243 267 10.09 1 Mitochondrion NA 0 PE1 -NX_Q9BYD3 34919 311 9.73 19 Cytosol;Mitochondrion;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q9BYD5 12376 112 5.7 19 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q9BYD6 36909 325 8.88 4 Mitochondrion NA 0 PE1 -NX_Q9BYD9 41008 372 5.53 3 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9BYE0 24899 225 10.49 17 Nucleoplasm;Nucleus Spondylocostal dysostosis 4, autosomal recessive 0 PE1 -NX_Q9BYE2 63153 586 8.96 11 Membrane NA 1 PE1 -NX_Q9BYE3 9444 92 9.03 1 NA NA 0 PE1 -NX_Q9BYE4 8158 73 8.3 1 Cytoplasm NA 0 PE1 -NX_Q9BYE7 39047 350 4.92 10 Nucleus NA 0 PE1 -NX_Q9BYE9 141543 1310 4.31 5 Microvillus membrane;Apical cell membrane;Cell junction NA 1 PE1 -NX_Q9BYF1 92463 805 5.36 X Cytoplasm;Cell membrane;Secreted NA 1 PE1 -NX_Q9BYG0 44053 378 8 3 Nucleolus;Golgi apparatus membrane NA 1 PE1 -NX_Q9BYG3 34222 293 9.88 2 Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_Q9BYG4 40883 376 8.36 18 Cytoplasm;Cell membrane;Tight junction NA 0 PE1 -NX_Q9BYG5 41182 372 5.37 20 Cytosol;Cytoplasm;Tight junction;Cell membrane NA 0 PE1 -NX_Q9BYG7 29054 248 9.93 18 Nucleolus NA 0 PE2 -NX_Q9BYG8 57692 508 5.55 8 Mitochondrion;Cytosol;Cell membrane NA 0 PE1 -NX_Q9BYH1 111782 1024 4.68 22 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9BYH8 78061 718 6.15 3 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9BYI3 57625 521 8.45 7 Cytosol;Cell membrane Leukodystrophy, hypomyelinating, 5 0 PE1 -NX_Q9BYJ0 24581 223 9.15 4 Extracellular space NA 0 PE1 -NX_Q9BYJ1 80543 711 6.53 17 Cytosol;Cytoplasm;Cell membrane Ichthyosis, congenital, autosomal recessive 3 0 PE1 -NX_Q9BYJ4 56864 488 7.43 11 Cytoplasm;Nucleolus;Centrosome NA 0 PE1 -NX_Q9BYJ9 60874 559 8.86 20 Cytoplasm NA 0 PE1 -NX_Q9BYK8 294651 2649 7.36 20 Nucleus NA 0 PE1 -NX_Q9BYL1 22770 202 10.02 20 Nucleoplasm NA 0 PE1 -NX_Q9BYM8 57572 510 5.47 20 NA Polyglucosan body myopathy 1 with or without immunodeficiency 0 PE1 -NX_Q9BYN0 14259 137 7.92 20 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BYN7 92728 854 9.11 20 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BYN8 24212 205 10.39 20 Mitochondrion NA 0 PE1 -NX_Q9BYP7 198416 1800 5.77 X Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q9BYP8 9504 105 3.83 17 NA NA 0 PE3 -NX_Q9BYP9 16266 154 8.22 17 NA NA 0 PE1 -NX_Q9BYQ0 16723 159 8.04 17 NA NA 0 PE1 -NX_Q9BYQ2 16378 154 7.95 17 NA NA 0 PE1 -NX_Q9BYQ3 16854 159 7.93 17 NA NA 0 PE1 -NX_Q9BYQ4 18287 174 8.15 17 NA NA 0 PE1 -NX_Q9BYQ5 21825 205 8.43 17 NA NA 0 PE1 -NX_Q9BYQ6 20927 195 8.4 17 NA NA 0 PE1 -NX_Q9BYQ7 15241 146 8.15 17 NA NA 0 PE1 -NX_Q9BYQ8 22405 210 8.29 17 NA NA 0 PE1 -NX_Q9BYQ9 19627 185 8.21 17 NA NA 0 PE1 -NX_Q9BYR0 22535 210 8.31 17 NA NA 0 PE1 -NX_Q9BYR2 19363 181 8.25 17 NA NA 0 PE1 -NX_Q9BYR3 18023 166 8.39 17 NA NA 0 PE1 -NX_Q9BYR4 20504 195 8.43 17 NA NA 0 PE1 -NX_Q9BYR5 14462 136 8.31 17 NA NA 0 PE1 -NX_Q9BYR6 10365 98 5.4 17 NA NA 0 PE1 -NX_Q9BYR7 10407 98 5.4 17 NA NA 0 PE1 -NX_Q9BYR8 10539 98 5.99 17 NA NA 0 PE1 -NX_Q9BYR9 13480 128 8.32 17 NA NA 0 PE1 -NX_Q9BYS1 18010 174 6.59 17 NA NA 0 PE1 -NX_Q9BYS8 42943 371 5.79 3 NA NA 0 PE1 -NX_Q9BYT1 47482 436 7.96 20 Nucleoplasm;Membrane Porokeratosis 8, disseminated superficial actinic type 10 PE1 -NX_Q9BYT3 57831 514 6.6 11 Cytosol;Perinuclear region;Nucleolus;Nucleus NA 0 PE1 -NX_Q9BYT5 12957 123 8.26 17 NA NA 0 PE2 -NX_Q9BYT8 80652 704 6.21 5 Mitochondrion;Cytoplasm;Mitochondrion intermembrane space NA 0 PE1 -NX_Q9BYT9 114657 981 8.87 11 Cell membrane Dystonia 24 8 PE1 -NX_Q9BYU1 40854 374 9.05 19 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9BYU5 13514 128 8.32 17 NA NA 0 PE2 -NX_Q9BYV1 57156 514 8.08 5 Mitochondrion NA 0 PE1 -NX_Q9BYV2 40301 358 5.15 2 Cytoskeleton;Z line NA 0 PE1 -NX_Q9BYV6 60466 548 4.74 8 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9BYV7 65674 579 8.65 11 Mitochondrion NA 0 PE1 -NX_Q9BYV8 41368 373 8.46 7 Cilium basal body;Centrosome;Cilium Joubert syndrome 15 0 PE1 -NX_Q9BYV9 92537 841 5 6 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BYW1 53703 496 8.57 22 Nucleus;Cell junction;Cell membrane NA 12 PE2 -NX_Q9BYW2 287597 2564 5.8 3 Cytosol;Nucleus speckle;Nucleus;Chromosome Luscan-Lumish syndrome;Leukemia, acute myelogenous;Leukemia, acute lymphoblastic;Renal cell carcinoma 0 PE1 -NX_Q9BYW3 12174 111 9.47 20 Secreted NA 0 PE1 -NX_Q9BYX2 105414 928 6.15 9 Cytosol;Cytoplasmic vesicle;Nucleus;Cell junction;Cytoplasm NA 0 PE1 -NX_Q9BYX4 116689 1025 5.38 2 Cytoplasm;Nucleus Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1;Diabetes mellitus, insulin-dependent, 19 0 PE1 -NX_Q9BYX7 42016 375 5.91 2 Cytoskeleton NA 0 PE5 -NX_Q9BYZ2 41943 381 8.88 15 NA NA 0 PE1 -NX_Q9BYZ6 82626 727 6.27 8 Cell membrane Epileptic encephalopathy, early infantile, 64 0 PE1 -NX_Q9BYZ8 18230 158 9.33 1 Secreted NA 0 PE1 -NX_Q9BZ11 87739 813 6.54 20 Nucleus speckle;Cell membrane;Membrane Asthma 1 PE1 -NX_Q9BZ19 37630 345 9.2 20 NA NA 0 PE4 -NX_Q9BZ23 62681 570 9.39 20 Cytosol;Cytoplasm;Mitochondrion Neurodegeneration with brain iron accumulation 1;Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 0 PE1 -NX_Q9BZ29 236446 2069 7.25 13 Endomembrane system NA 0 PE1 -NX_Q9BZ67 51218 464 5.83 11 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q9BZ68 41136 369 5.54 X NA NA 0 PE5 -NX_Q9BZ71 106781 974 6.69 17 Cell membrane;Endomembrane system Cone-rod dystrophy 5 0 PE1 -NX_Q9BZ72 148933 1349 6.72 12 Cytoplasmic vesicle;Endomembrane system NA 0 PE1 -NX_Q9BZ76 140690 1288 8.02 9 Cell membrane;Secreted NA 1 PE1 -NX_Q9BZ81 31906 275 7.56 X NA NA 0 PE2 -NX_Q9BZ95 161613 1437 8.57 8 Mitochondrion;Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q9BZ97 6256 58 4.45 Y Membrane NA 1 PE5 -NX_Q9BZ98 10490 90 9.55 Y NA NA 0 PE5 -NX_Q9BZA0 7782 68 9.63 Y NA NA 0 PE5 -NX_Q9BZA5 14632 131 5.22 Y NA NA 0 PE5 -NX_Q9BZA7 147558 1347 5.04 X Cell membrane NA 1 PE1 -NX_Q9BZA8 146775 1340 5.03 Y Cell membrane NA 1 PE1 -NX_Q9BZB8 62595 566 7.55 15 Nucleoplasm;Synapse;P-body;Dendrite;Cytosol;Cytoplasm;Cytoplasmic granule;Nucleus;Membrane;Postsynaptic density NA 0 PE1 -NX_Q9BZC1 51966 486 8.11 18 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BZC7 269833 2435 6.37 9 Endosome membrane;Lysosome membrane NA 14 PE1 -NX_Q9BZD2 51815 475 7.95 10 Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane;Golgi apparatus;Membrane Histiocytosis-lymphadenopathy plus syndrome 11 PE1 -NX_Q9BZD3 41713 368 6.36 4 NA NA 0 PE5 -NX_Q9BZD4 54304 464 8.41 1 Kinetochore;Nucleus NA 0 PE1 -NX_Q9BZD6 25403 226 7.08 11 Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus NA 1 PE1 -NX_Q9BZD7 25875 231 5.75 X Membrane NA 1 PE2 -NX_Q9BZE0 55689 524 9.08 16 Cytosol;Cytoplasm;Nucleoplasm;Cell membrane;Nucleus speckle Nephronophthisis 7 0 PE1 -NX_Q9BZE1 48117 423 8.83 1 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q9BZE2 55647 481 7.2 11 Cytosol;Nucleus Mental retardation, autosomal recessive 55 0 PE1 -NX_Q9BZE3 35074 327 9.05 9 Nucleus NA 0 PE2 -NX_Q9BZE4 73964 634 9.52 10 Nucleolus;Nucleus membrane NA 0 PE1 -NX_Q9BZE7 24956 217 9.83 22 Nucleus NA 0 PE1 -NX_Q9BZE9 60183 553 6.23 17 Nucleoplasm;Cytoplasm;Cell membrane;Endomembrane system;Cytoplasmic vesicle;Nucleus;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 0 PE1 -NX_Q9BZF1 101196 889 6.52 12 Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum membrane;Nucleus membrane;Cell membrane NA 1 PE1 -NX_Q9BZF2 95432 842 8.31 17 Cytosol;Endoplasmic reticulum membrane;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9BZF3 106306 934 6.48 2 Cytosol;Endoplasmic reticulum membrane;Nucleus envelope;Cell membrane NA 0 PE1 -NX_Q9BZF9 162505 1416 6.6 15 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9BZG1 29044 259 8.07 17 Phagosome membrane;Cytoplasm;Phagosome;Golgi apparatus;Cilium NA 0 PE1 -NX_Q9BZG2 46090 426 8.45 19 Membrane Amelogenesis imperfecta 1J 1 PE1 -NX_Q9BZG8 48805 443 8.47 17 Nucleoplasm;Cytoplasm;Nucleus;Cell junction Developmental delay with short stature, dysmorphic features, and sparse hair 0 PE1 -NX_Q9BZH6 136685 1224 6.48 10 trans-Golgi network;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Cilium axoneme;Cytoskeleton;Cilium basal body Hypogonadotropic hypogonadism 14 with or without anosmia 0 PE1 -NX_Q9BZI1 49129 471 5.14 5 Nucleolus;Nucleus NA 0 PE1 -NX_Q9BZI7 57762 483 9.48 X Cytosol;Cytoplasm;Nucleolus;Nucleus Mental retardation, X-linked, syndromic, 14 0 PE1 -NX_Q9BZJ0 100452 848 8.1 20 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9BZJ3 26584 242 5.51 16 Nucleus speckle;Secreted NA 0 PE1 -NX_Q9BZJ4 39249 359 9.68 17 Mitochondrion;Mitochondrion inner membrane NA 6 PE1 -NX_Q9BZJ6 47578 419 9.6 6 Cytosol;Nucleus;Cell membrane NA 7 PE2 -NX_Q9BZJ7 37614 368 10.86 3 Endosome membrane;Cell membrane NA 7 PE1 -NX_Q9BZJ8 49292 451 6.19 1 Endosome membrane;Cell membrane NA 7 PE1 -NX_Q9BZK3 23306 213 4.53 8 NA NA 0 PE5 -NX_Q9BZK7 55595 514 5.28 3 Nucleoplasm;Nucleus Mental retardation, autosomal dominant 41;Pierpont syndrome 0 PE1 -NX_Q9BZK8 8369 76 8.97 1 NA NA 0 PE4 -NX_Q9BZL1 8547 73 8.58 19 Cytoplasm NA 0 PE1 -NX_Q9BZL3 6593 60 6.69 5 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q9BZL4 84881 782 5.44 19 Cytoplasm;Stress fiber NA 0 PE1 -NX_Q9BZL6 96722 878 6.39 19 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;trans-Golgi network NA 0 PE1 -NX_Q9BZM1 21067 189 6.95 4 Cytoplasm;Secreted NA 0 PE1 -NX_Q9BZM2 18658 168 5.09 1 Cell membrane;Secreted NA 0 PE1 -NX_Q9BZM3 32031 304 9.22 4 Nucleus NA 0 PE2 -NX_Q9BZM4 27949 244 8.2 6 Cytoplasmic vesicle;Cell membrane;Microtubule organizing center NA 0 PE1 -NX_Q9BZM5 27368 246 6.93 6 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane;Secreted NA 0 PE1 -NX_Q9BZM6 27997 244 7.07 6 Cytosol;Cytoskeleton;Cell membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q9BZP3 9646 86 4.99 18 NA NA 0 PE5 -NX_Q9BZP6 52271 476 5.54 1 Cytoplasm;Secreted NA 0 PE1 -NX_Q9BZQ2 72632 653 5.2 1 Spindle NA 0 PE1 -NX_Q9BZQ4 34439 307 6.59 1 Axon;Cytoplasm;Cytoplasmic vesicle membrane;Golgi apparatus membrane NA 0 PE1 -NX_Q9BZQ6 104664 932 4.82 1 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 -NX_Q9BZQ8 103135 928 4.74 1 Cytosol;Cytoplasm;Cell membrane;Membrane NA 0 PE1 -NX_Q9BZR6 50708 473 9.22 22 Perikaryon;Cell membrane;Axon;Dendrite;Focal adhesion;Endoplasmic reticulum;Cytoskeleton;Membrane raft Schizophrenia 0 PE1 -NX_Q9BZR8 36598 327 6.17 12 Cytosol;Cytoplasm;Endomembrane system NA 0 PE1 -NX_Q9BZR9 61489 551 7.26 10 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9BZS1 47244 431 9.52 X Nucleoplasm;Cytoplasm;Nucleus Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome 0 PE1 -NX_Q9BZS9 5619 49 5.91 7 NA NA 0 PE5 -NX_Q9BZV1 49754 441 6.46 19 Lysosome membrane;Golgi apparatus;Cytosol;Cytoplasm;Early endosome membrane;Late endosome membrane;Nucleus;Membrane;Centrosome NA 0 PE1 -NX_Q9BZV2 55665 496 6.01 2 Nucleoplasm;Cytosol;Membrane Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type 12 PE1 -NX_Q9BZV3 138621 1241 4.52 3 Membrane Retinitis pigmentosa 56;Macular dystrophy, vitelliform, 5 1 PE1 -NX_Q9BZW2 66134 595 8.35 7 Membrane NA 13 PE1 -NX_Q9BZW4 42554 377 7.95 19 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 9 PE1 -NX_Q9BZW5 41636 370 7.55 15 Lysosome membrane NA 9 PE1 -NX_Q9BZW7 81421 698 5.73 2 Centriole;Cytoplasm;Cytosol Spermatogenic failure 26 0 PE1 -NX_Q9BZW8 41616 370 9.14 1 Cell membrane;Membrane NA 1 PE1 -NX_Q9BZX2 29299 261 6.24 1 Nucleus NA 0 PE1 -NX_Q9BZX4 23964 212 5.11 3 Flagellum NA 0 PE1 -NX_Q9BZY9 48244 425 7.55 6 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q9BZZ2 182624 1709 6.15 20 Cell membrane;Secreted NA 1 PE1 -NX_Q9BZZ5 59005 524 6.99 11 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9C000 165866 1473 6.39 17 Nucleoplasm;Cytosol;Inflammasome;Nucleus;Cytoplasm Autoinflammation with arthritis and dyskeratosis;Vitiligo-associated multiple autoimmune disease 1;Palmoplantar carcinoma, multiple self-healing 0 PE1 -NX_Q9C002 9617 83 9.45 15 Nucleus NA 0 PE1 -NX_Q9C004 32541 299 8.25 5 Cytoplasm;Ruffle membrane Hypogonadotropic hypogonadism 17 with or without anosmia 0 PE1 -NX_Q9C005 11250 99 4.84 2 Nucleoplasm;Nucleus;Golgi apparatus;trans-Golgi network NA 0 PE1 -NX_Q9C009 41526 403 9.52 6 Nucleus NA 0 PE1 -NX_Q9C010 8468 78 4.76 6 NA NA 0 PE1 -NX_Q9C019 52113 465 5.4 6 NA NA 0 PE1 -NX_Q9C026 79177 710 6.4 14 Synapse;Cytosol;Cytoplasm;Dendrite;Cytoskeleton;Synaptic vesicle NA 0 PE1 -NX_Q9C029 56631 511 7.81 5 Cytoplasmic vesicle;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9C030 56400 488 7.5 11 Cytoplasm NA 0 PE1 -NX_Q9C035 56338 493 5.73 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9C037 57461 500 8.4 7 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9C040 81530 744 6.51 4 Cytoplasm;Centrosome Charcot-Marie-Tooth disease 2R 0 PE1 -NX_Q9C056 29263 277 9.71 10 Nucleus Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 0 PE1 -NX_Q9C073 48319 453 8.67 17 Nucleoplasm NA 0 PE1 -NX_Q9C075 48131 422 6.09 17 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9C086 38637 356 9.66 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q9C091 214354 1923 6.18 18 Mitochondrion;Nucleolus;Membrane Renal hypodysplasia/aplasia 3 1 PE1 -NX_Q9C093 209811 1822 5.4 5 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q9C098 73814 648 9 3 Cytoplasm;Nucleus NA 0 PE2 -NX_Q9C099 119596 1032 5.62 8 Centriole NA 0 PE1 -NX_Q9C0A0 145274 1308 6.22 16 Presynaptic cell membrane NA 1 PE1 -NX_Q9C0A1 274176 2572 5.59 14 Nucleolus;Nucleus Marsili syndrome 0 PE1 -NX_Q9C0A6 157515 1442 8.74 3 Cytosol;Nucleus Mental retardation, autosomal dominant 23 0 PE1 -NX_Q9C0B0 88084 810 6.4 17 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9C0B1 58282 505 5.1 16 Cytosol;Nucleus speckle;Cytoplasmic vesicle;Nucleus;Cytoplasm Obesity;Growth retardation, developmental delay, and facial dysmorphism 0 PE1 -NX_Q9C0B2 178589 1584 6.01 1 Cilium axoneme NA 0 PE1 -NX_Q9C0B5 77545 715 9.17 11 Cytosol;Nucleoplasm;Cell junction;Cell membrane NA 4 PE1 -NX_Q9C0B6 89005 783 8.18 1 Cytoplasmic vesicle;Nucleolus;Secreted NA 0 PE1 -NX_Q9C0B7 120748 1094 5.75 16 Cytosol;Golgi apparatus;Membrane NA 1 PE1 -NX_Q9C0B9 125936 1178 6.55 18 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q9C0C2 181796 1729 4.77 11 Cytoskeleton;Nucleus;Chromosome NA 0 PE1 -NX_Q9C0C4 92623 833 6.92 2 Postsynaptic density;Synaptic vesicle membrane NA 1 PE1 -NX_Q9C0C6 42692 399 9.08 14 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q9C0C7 142507 1298 6.73 11 Mitochondrion;Cytoplasmic vesicle;Autophagosome NA 0 PE1 -NX_Q9C0C9 141293 1292 5.01 17 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9C0D0 66308 580 6.51 6 Cytoplasm;Synapse;Nucleus;Cell membrane NA 0 PE1 -NX_Q9C0D2 295176 2601 5.68 11 Cytosol;Cell membrane;Centrosome;Centriole;Cytoskeleton;Spindle NA 0 PE1 -NX_Q9C0D3 83921 744 6.38 1 Cytoskeleton;Golgi apparatus NA 0 PE1 -NX_Q9C0D4 119531 1074 9.52 4 Nucleus NA 0 PE1 -NX_Q9C0D5 202219 1861 8.63 2 Postsynaptic density NA 0 PE1 -NX_Q9C0D6 124762 1143 9.17 4 Cilium;Golgi apparatus NA 0 PE1 -NX_Q9C0D7 99340 883 6.48 11 Golgi apparatus;Nucleus membrane NA 0 PE1 -NX_Q9C0D9 45229 397 6.12 2 Membrane NA 10 PE1 -NX_Q9C0E2 130139 1151 4.95 13 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9C0E4 112573 1043 6.02 3 Cytosol;Cytoplasm;Membrane NA 0 PE1 -NX_Q9C0E8 47740 428 5.07 2 Endoplasmic reticulum membrane;Nucleoplasm;Endoplasmic reticulum NA 2 PE1 -NX_Q9C0F0 241919 2248 5.8 18 Nucleus Bainbridge-Ropers syndrome 0 PE1 -NX_Q9C0F1 44140 390 5.13 4 Midbody;Centrosome;Spindle pole NA 0 PE1 -NX_Q9C0F3 54277 470 6.75 1 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9C0G0 247367 2248 6.05 18 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9C0G6 475983 4158 5.72 2 Cilium axoneme NA 0 PE1 -NX_Q9C0H2 57545 523 5.19 7 Cell membrane NA 5 PE1 -NX_Q9C0H5 121286 1083 7.3 8 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9C0H6 80245 718 6.39 X Cytoskeleton;Microtubule organizing center NA 0 PE1 -NX_Q9C0H9 127105 1183 9.39 17 Synapse;Cytoplasm;Axon;Dendrite;Postsynaptic density;Cytoskeleton;Cell junction NA 0 PE1 -NX_Q9C0I1 86148 747 6.17 5 Sarcomere;Cytoplasm;Sarcoplasmic reticulum NA 0 PE1 -NX_Q9C0I3 99510 900 7.88 4 NA NA 0 PE1 -NX_Q9C0I4 179402 1608 7.93 2 Nucleoplasm;Cytosol;Membrane NA 1 PE1 -NX_Q9C0I9 60089 530 9.62 10 Nucleus;Golgi apparatus NA 0 PE2 -NX_Q9C0J1 42310 378 9.44 12 Mitochondrion;Nucleolus;Golgi apparatus membrane NA 1 PE1 -NX_Q9C0J8 145891 1336 9.24 2 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9C0J9 50498 482 6.95 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9C0K0 95519 894 6.1 14 Nucleolus;Nucleus Immunodeficiency 49 0 PE1 -NX_Q9C0K1 49631 460 5.71 4 Membrane Congenital disorder of glycosylation 2N 8 PE1 -NX_Q9C0K3 23712 210 5.36 7 NA NA 0 PE2 -NX_Q9C0K7 47026 418 6.52 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9GIP4 19840 190 6.72 16 Membrane NA 3 PE5 -NX_Q9GIY3 30139 266 8.22 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 -NX_Q9GZK3 40412 357 8.61 6 Cell membrane NA 7 PE2 -NX_Q9GZK4 35339 316 9.02 6 Cell membrane NA 7 PE2 -NX_Q9GZK6 35454 312 8.31 6 Cell membrane NA 7 PE3 -NX_Q9GZK7 35250 315 8.05 6 Cell membrane NA 7 PE2 -NX_Q9GZL7 47708 423 5.57 2 Nucleoplasm;Cytosol;Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_Q9GZL8 12676 116 4.52 3 NA NA 0 PE2 -NX_Q9GZM3 13088 115 6.28 7 Nucleus NA 0 PE1 -NX_Q9GZM5 38248 350 5.47 6 Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;cis-Golgi network membrane;Endoplasmic reticulum NA 5 PE1 -NX_Q9GZM6 34857 311 8.37 11 Cell membrane NA 7 PE2 -NX_Q9GZM7 52387 467 6.54 1 Secreted NA 0 PE1 -NX_Q9GZM8 38375 345 5.16 17 Kinetochore;Spindle;Cytoskeleton;Centrosome NA 0 PE1 -NX_Q9GZN0 40246 384 9.8 1 Cytoplasm;Nucleus;Cell membrane Chorea, childhood-onset, with psychomotor retardation 7 PE2 -NX_Q9GZN1 45810 396 4.92 12 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 -NX_Q9GZN2 25878 237 7.77 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9GZN4 33732 317 7.55 16 Nucleoplasm;Secreted NA 0 PE1 -NX_Q9GZN6 82200 736 8.59 19 Golgi apparatus;Membrane NA 12 PE1 -NX_Q9GZN7 32254 287 8.3 16 Perikaryon;Cytoplasm;Nucleus envelope;Axon;Dendrite;Nucleus;Presynaptic cell membrane;Synaptic vesicle Kohlschuetter-Toenz syndrome 0 PE1 -NX_Q9GZN8 19291 174 6.34 20 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9GZP0 42848 370 8.28 11 Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 -NX_Q9GZP1 21983 204 4.69 20 Golgi apparatus;Nucleoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol;Membrane NA 2 PE1 -NX_Q9GZP4 24178 211 5.47 1 NA NA 0 PE1 -NX_Q9GZP7 40021 353 9.46 19 Cytoplasmic vesicle;Nucleus;Cell membrane NA 7 PE2 -NX_Q9GZP8 10897 106 9.73 19 Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q9GZP9 27567 239 6.73 17 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 4 PE1 -NX_Q9GZQ3 24670 224 6.52 8 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9GZQ4 47696 415 8.96 5 Cell membrane NA 7 PE1 -NX_Q9GZQ6 47819 430 9.54 10 Cell membrane NA 7 PE2 -NX_Q9GZQ8 14688 125 8.89 16 Autophagosome membrane;Cytoplasm;Endomembrane system;Nucleus;Autophagosome;Cytoskeleton NA 0 PE1 -NX_Q9GZR1 126146 1112 6.3 6 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9GZR2 46672 422 9.79 9 Nucleolus;Nucleus NA 0 PE1 -NX_Q9GZR5 36829 314 9.49 6 Endoplasmic reticulum membrane Spinocerebellar ataxia 34;Stargardt disease 3;Ichthyosis, spastic quadriplegia, and mental retardation 7 PE1 -NX_Q9GZR7 96332 859 9.14 14 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q9GZS0 68821 605 4.68 17 Cilium axoneme Ciliary dyskinesia, primary, 9 0 PE1 -NX_Q9GZS1 47260 419 9.1 9 Nucleolus;Nucleus NA 0 PE1 -NX_Q9GZS3 33581 305 5.16 15 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9GZS9 46161 411 10.07 16 Golgi apparatus membrane NA 1 PE1 -NX_Q9GZT3 12349 109 10.26 14 Mitochondrion;Nucleus NA 0 PE1 -NX_Q9GZT4 36566 340 6.11 17 Cytoplasmic vesicle NA 0 PE1 -NX_Q9GZT5 46444 417 9.38 2 Extracellular matrix;Secreted Tooth agenesis, selective, 4;Odonto-onycho-dermal dysplasia;Schopf-Schulz-Passarge syndrome 0 PE1 -NX_Q9GZT6 29506 254 6.99 11 Mitochondrion;Mitochondrion membrane NA 1 PE1 -NX_Q9GZT8 41968 377 6.19 2 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9GZT9 46021 426 8.83 1 Cytosol;Cytoplasm;Nucleus Erythrocytosis, familial, 3 0 PE1 -NX_Q9GZU0 27083 229 9.05 6 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9GZU1 65022 580 6.9 19 Phagocytic cup;Cytosol;Cell membrane;Lysosome membrane;Late endosome membrane;Phagosome membrane;Cytoplasmic vesicle membrane Mucolipidosis 4 6 PE1 -NX_Q9GZU2 180827 1588 5.31 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9GZU3 56274 492 9.51 1 Cytoplasmic vesicle;Membrane NA 8 PE1 -NX_Q9GZU5 52000 481 9.1 X Extracellular matrix Night blindness, congenital stationary, 1A 0 PE1 -NX_Q9GZU7 29203 261 5.62 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9GZU8 28912 254 5.38 16 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9GZV1 39859 360 5.72 10 Cytoplasmic vesicle;I band;Nucleus;Cytosol;PML body NA 0 PE1 -NX_Q9GZV3 63204 580 5 2 Synapse;Cell membrane;Nucleus;Membrane;Cytoskeleton;Cell junction Neuronopathy, distal hereditary motor, 7A;Myasthenic syndrome, congenital, 20, presynaptic 13 PE1 -NX_Q9GZV4 16793 153 5.38 3 Endoplasmic reticulum membrane;Cytoplasm;Nuclear pore complex;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q9GZV5 44101 400 5.49 3 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9GZV7 37775 340 9.12 1 Extracellular matrix NA 0 PE1 -NX_Q9GZV8 64062 571 6.65 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9GZV9 27954 251 9.17 12 Secreted Hypophosphatemic rickets, autosomal dominant;Tumoral calcinosis, hyperphosphatemic, familial, 2 0 PE1 -NX_Q9GZW5 34217 306 10.67 15 Nucleus NA 0 PE5 -NX_Q9GZW8 26131 240 6.17 11 Membrane NA 4 PE2 -NX_Q9GZX3 44099 395 10.03 16 Golgi apparatus membrane Macular dystrophy, corneal 1 PE1 -NX_Q9GZX5 60011 532 8.92 19 Nucleoplasm;Nucleus;Nucleus matrix NA 0 PE1 -NX_Q9GZX6 20011 179 7.65 12 Secreted NA 0 PE1 -NX_Q9GZX7 23954 198 9.5 12 Cytoplasm;Nucleus Immunodeficiency with hyper-IgM 2 0 PE1 -NX_Q9GZX9 25017 223 5.17 18 Cytosol;Centrosome;Secreted NA 0 PE1 -NX_Q9GZY0 71627 626 7.74 X Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9GZY1 15722 135 9.77 6 Cytoplasm;Nucleus NA 0 PE2 -NX_Q9GZY4 16694 146 8.76 7 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_Q9GZY6 26550 243 4.69 7 Cell membrane NA 1 PE1 -NX_Q9GZY8 38465 342 9.01 2 Mitochondrion;Peroxisome;Synaptic vesicle;Mitochondrion outer membrane Encephalopathy due to defective mitochondrial and peroxisomal fission 2 1 PE1 -NX_Q9GZZ0 34093 328 9.15 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9GZZ1 19398 169 8.96 3 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9GZZ6 49705 450 8.2 11 Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_Q9GZZ7 31670 299 10.47 20 Cell membrane;Secreted NA 0 PE1 -NX_Q9GZZ8 14246 138 5.44 12 Secreted NA 0 PE1 -NX_Q9GZZ9 44863 404 4.79 3 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Golgi apparatus Spinocerebellar ataxia, autosomal recessive, 24;Epileptic encephalopathy, early infantile, 44 0 PE1 -NX_Q9H000 46940 416 7.73 3 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9H008 29165 270 5.8 10 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9H009 23223 215 4.68 17 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H013 104997 955 8.75 5 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q9H015 62155 551 6.85 5 Mitochondrion;Membrane Rheumatoid arthritis 12 PE1 -NX_Q9H019 31957 292 5.77 1 Mitochondrion;Cytoplasm;Cell junction NA 0 PE1 -NX_Q9H040 55134 489 8.38 1 Nucleoplasm;Nucleus;Chromosome Ruijs-Aalfs syndrome 0 PE1 -NX_Q9H061 21527 195 9.36 11 Mitochondrion;Nucleus;Mitochondrion inner membrane;Cytosol Optic atrophy 7 with or without auditory neuropathy 4 PE1 -NX_Q9H063 28771 256 4.47 8 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9H069 61054 523 4.68 17 Cytoplasm;Flagellum axoneme;Cilium;Cilium axoneme NA 0 PE1 -NX_Q9H074 53525 479 4.71 5 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9H078 78729 707 9.13 11 Mitochondrion 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 0 PE1 -NX_Q9H079 34767 304 9.18 15 Spindle;Nucleus;Spindle pole;Midbody NA 0 PE1 -NX_Q9H081 24140 205 5.5 17 Kinetochore;Nucleus NA 0 PE1 -NX_Q9H082 25718 229 6.7 4 Golgi apparatus membrane;cis-Golgi network;Golgi apparatus Smith-McCort dysplasia 2 0 PE1 -NX_Q9H089 75225 658 5.96 3 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Cajal body NA 0 PE1 -NX_Q9H091 81860 742 6.38 17 Cytosol;Nucleus speckle;Nucleus;Cytoplasm Spermatogenic failure 14 0 PE1 -NX_Q9H093 69612 628 9.01 1 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q9H094 72951 633 4.4 1 Cytoplasm NA 0 PE2 -NX_Q9H095 51918 443 6.18 3 Flagellum axoneme;Flagellum;Cytosol;Cytoplasm;Cytoskeleton;Cilium NA 0 PE1 -NX_Q9H098 15558 131 7.89 10 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H0A0 115730 1025 8.5 11 Nucleolus;Midbody NA 0 PE1 -NX_Q9H0A3 17963 160 8.95 22 Membrane NA 1 PE2 -NX_Q9H0A6 41516 362 9.15 7 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9H0A8 21764 199 6.89 15 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9H0A9 37613 340 7.05 21 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Cell membrane NA 0 PE1 -NX_Q9H0B3 127693 1180 10.25 19 Mitochondrion NA 0 PE1 -NX_Q9H0B6 68935 622 6.72 11 Nucleoplasm;Cytoplasm;Cytoskeleton;Cytosol;Cell membrane Spastic paraplegia, optic atrophy, and neuropathy 0 PE1 -NX_Q9H0B8 55920 497 8.36 16 Nucleolus;Nucleus;Golgi apparatus;Secreted NA 0 PE1 -NX_Q9H0C1 41818 365 5.82 1 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H0C2 35022 315 9.91 4 Mitochondrion;Flagellum;Mitochondrion inner membrane NA 6 PE1 -NX_Q9H0C3 60185 514 8.67 12 Cytoskeleton;Nucleolus;Nucleus;Cell membrane;Endoplasmic reticulum NA 8 PE1 -NX_Q9H0C5 52771 482 5.79 15 Cytoplasm NA 0 PE1 -NX_Q9H0C8 42907 392 6.68 2 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9H0D2 145587 1346 8.28 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H0D6 108582 950 7.26 20 Nucleolus;Nucleus NA 0 PE1 -NX_Q9H0E2 30282 274 5.68 11 Cytosol;Cytoplasm;Endosome;Cell membrane NA 0 PE1 -NX_Q9H0E3 110324 1048 9.83 2 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9H0E7 81185 712 8.21 12 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_Q9H0E9 135336 1235 4.52 5 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q9H0F5 57595 515 7.68 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H0F6 39949 387 5.53 8 Cytosol;Synapse;Nucleus NA 0 PE1 -NX_Q9H0F7 21097 186 8.72 3 Cytoplasmic vesicle;Cilium membrane;Nucleoplasm;Cilium axoneme;Cilium basal body Retinitis pigmentosa 55;Bardet-Biedl syndrome 3 0 PE1 -NX_Q9H0G5 66390 558 8.9 17 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9H0H0 134323 1204 5.72 17 Cytoplasm;Nucleus;Nucleus membrane NA 1 PE1 -NX_Q9H0H3 65923 589 6.1 15 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9H0H5 71027 632 9.08 12 Acrosome;Cleavage furrow;Nucleoplasm;Cytoplasm;Midbody ring;Nucleus envelope;Cell membrane;Nucleus;Spindle NA 0 PE1 -NX_Q9H0H9 12413 118 9.49 2 NA NA 0 PE5 -NX_Q9H0I2 38759 346 9.84 16 Cytosol;Cytoskeleton;Centrosome;Cell membrane NA 0 PE1 -NX_Q9H0I3 44220 377 8.75 16 Cytosol;Cytoplasm;Centriolar satellite;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9H0I9 67877 626 5.9 4 Cytoplasm NA 0 PE1 -NX_Q9H0J4 180827 1663 6.25 17 Cytoplasmic vesicle;Nucleoplasm;Nucleus membrane NA 0 PE1 -NX_Q9H0J9 79064 701 8.84 7 Nucleus NA 0 PE1 -NX_Q9H0K1 103915 926 5.7 11 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q9H0K4 80913 717 4.36 19 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H0K6 80700 701 7.31 12 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9H0L4 64437 616 6.79 10 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H0M0 105202 922 5.64 8 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q9H0M4 72007 648 7.47 7 Golgi apparatus NA 0 PE1 -NX_Q9H0M5 86232 742 9.15 19 Nucleus NA 0 PE1 -NX_Q9H0N0 28355 254 7.58 2 Cytoplasm;Nucleus;Centrosome;Golgi apparatus NA 0 PE1 -NX_Q9H0N5 14365 130 9.17 5 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9H0P0 37948 336 6.67 7 Mitochondrion;Cytoplasm;Nucleus;Endoplasmic reticulum P5N deficiency 0 PE1 -NX_Q9H0P7 20949 198 6.01 6 Cytoplasm NA 0 PE5 -NX_Q9H0Q0 37313 323 5.71 2 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H0Q3 10542 95 5.05 11 Cytoplasmic vesicle;Membrane;Golgi apparatus;Cell membrane;Nucleus membrane NA 1 PE1 -NX_Q9H0R1 54767 490 6.17 14 Cytosol;Lysosome membrane;Late endosome membrane NA 0 PE1 -NX_Q9H0R3 23230 208 6.04 1 Cytosol;Cell membrane;Membrane NA 3 PE1 -NX_Q9H0R4 28536 259 5.84 18 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H0R5 68114 595 6.11 1 Cytoplasm;Perinuclear region;Golgi apparatus membrane NA 0 PE1 -NX_Q9H0R6 57460 528 5.47 6 Mitochondrion;Cytoplasmic vesicle;Centrosome NA 0 PE1 -NX_Q9H0R8 14044 117 8.67 12 Golgi apparatus;Cytoplasm;Endoplasmic reticulum;Nucleus;Autophagosome;Cytoskeleton;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q9H0S4 50647 455 9.18 12 Nucleolus;Nucleus NA 0 PE1 -NX_Q9H0T7 23491 212 7.7 2 Cytoplasm;Recycling endosome membrane;Nucleus;Melanosome;Dendrite NA 0 PE1 -NX_Q9H0U3 38037 335 9.68 X Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 4 PE1 -NX_Q9H0U4 22171 201 5.55 11 Cytoplasm;Preautophagosomal structure membrane;Endoplasmic reticulum;Golgi apparatus;Membrane NA 0 PE1 -NX_Q9H0U6 20577 180 9.63 6 Mitochondrion NA 0 PE1 -NX_Q9H0U9 49192 437 5.36 6 Nucleolus;Nucleus Sudden infant death with dysgenesis of the testes syndrome 0 PE1 -NX_Q9H0V1 79755 697 8.34 7 Golgi apparatus;Membrane NA 11 PE1 -NX_Q9H0V9 39711 348 8.55 2 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum Mental retardation, autosomal recessive 52 1 PE1 -NX_Q9H0W5 59374 538 8.72 19 Cytosol;Cytoplasm;Nucleus;Centrosome;Cell membrane 3M syndrome 3 0 PE1 -NX_Q9H0W7 26260 228 10.17 12 Nucleoplasm;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q9H0W8 57651 520 6.52 19 Mitochondrion;Cytosol;Nucleus;Cytoplasm Heart and brain malformation syndrome 0 PE1 -NX_Q9H0W9 35117 315 6.23 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H0X4 59660 552 5.84 16 Nucleoplasm;Mitochondrion;Cell membrane;Membrane NA 1 PE1 -NX_Q9H0X6 27964 261 7.45 9 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9H0X9 98616 879 7.29 11 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Endoplasmic reticulum NA 1 PE1 -NX_Q9H0Y0 25279 220 5.35 5 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9H0Z9 25498 239 8.76 20 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H106 21687 197 9.56 20 Secreted NA 0 PE1 -NX_Q9H112 16506 138 6.51 20 Secreted NA 0 PE1 -NX_Q9H114 16989 145 9.84 20 Secreted NA 0 PE2 -NX_Q9H115 33557 298 5.32 20 Membrane NA 0 PE1 -NX_Q9H116 80492 711 8.11 20 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Joint laxity, short stature, and myopia 0 PE1 -NX_Q9H147 37013 329 9.11 20 Nucleus NA 0 PE1 -NX_Q9H156 95404 845 7.95 X Cell membrane;Membrane NA 1 PE1 -NX_Q9H158 103942 963 5.05 5 Cytoplasmic vesicle;Nucleolus;Nucleus;Cell membrane NA 1 PE2 -NX_Q9H159 87002 772 4.62 18 Cell membrane NA 1 PE1 -NX_Q9H160 32808 280 8.17 4 Nucleoplasm;Cytosol;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9H161 44241 411 8.56 11 Nucleoplasm;Nucleus Potocki-Shaffer syndrome;Parietal foramina 2;Frontonasal dysplasia 2;Craniosynostosis 5 0 PE1 -NX_Q9H165 91197 835 6.15 2 Nucleoplasm;Cytoplasm;Nucleus Intellectual developmental disorder with persistence of fetal hemoglobin 0 PE1 -NX_Q9H169 22071 189 5.76 8 Axon;Cytoplasmic vesicle;Growth cone;Golgi apparatus NA 0 PE1 -NX_Q9H171 46343 429 6.29 20 NA NA 0 PE1 -NX_Q9H172 71896 646 8.49 11 Membrane NA 6 PE1 -NX_Q9H173 52085 461 5.27 5 Endoplasmic reticulum lumen Marinesco-Sjoegren syndrome 0 PE1 -NX_Q9H175 59591 543 4.68 12 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9H190 31594 292 9.15 20 Nucleus speckle;Nucleolus;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q9H195 131402 1237 5.28 7 Membrane NA 1 PE2 -NX_Q9H1A3 36536 318 6.96 16 Cytosol;Nucleus;Cell junction NA 0 PE1 -NX_Q9H1A4 216500 1944 5.88 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q9H1A7 13092 115 5.88 7 Nucleus NA 0 PE2 -NX_Q9H1B4 45628 397 9.1 X Cytoplasm;Nucleus NA 0 PE2 -NX_Q9H1B5 96767 865 8.5 17 Cytosol;Nucleus;Golgi apparatus membrane;Secreted Spondyloocular syndrome;Pseudoxanthoma elasticum 1 PE1 -NX_Q9H1B7 82659 796 8.56 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H1C0 41347 372 10.22 12 Cell membrane NA 7 PE2 -NX_Q9H1C3 40026 349 6.57 12 Cytosol;Membrane NA 1 PE1 -NX_Q9H1C4 66631 597 6.48 11 Endoplasmic reticulum membrane;Nucleoplasm;Endosome;Phagosome;Lysosome Encephalopathy, acute, infection-induced, Herpes-specific, 1 12 PE1 -NX_Q9H1C7 10631 97 4.2 5 Membrane NA 1 PE1 -NX_Q9H1D0 87286 765 7.86 7 Cell membrane NA 6 PE1 -NX_Q9H1D9 35684 316 5.79 20 Nucleus NA 0 PE1 -NX_Q9H1E1 17419 156 9.76 14 Secreted NA 0 PE1 -NX_Q9H1E3 27296 243 5 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q9H1E5 38952 349 4.31 20 Nucleus membrane;Membrane NA 1 PE1 -NX_Q9H1F0 8943 79 8.8 20 Secreted NA 0 PE2 -NX_Q9H1H1 16872 148 6.3 20 Nucleolus NA 0 PE1 -NX_Q9H1H9 202308 1805 5.43 6 Endosome membrane;Golgi apparatus membrane;Centrosome;Midbody NA 0 PE1 -NX_Q9H1I8 86360 757 5.02 22 Cytosol;Nucleus speckle;Focal adhesion;Nucleus NA 0 PE1 -NX_Q9H1J1 54696 476 9.12 13 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9H1J5 38849 351 8.1 5 Cytosol;Secreted;Cell membrane;Extracellular matrix NA 0 PE1 -NX_Q9H1J7 40323 359 8.8 12 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_Q9H1K0 88870 784 5.36 3 Cytoplasmic vesicle;Early endosome membrane;Cell membrane NA 0 PE1 -NX_Q9H1K1 17999 167 9.54 12 Mitochondrion;Cytoplasm;Nucleus;Cytosol Myopathy with exercise intolerance Swedish type 0 PE1 -NX_Q9H1K4 33849 315 9.39 22 Mitochondrion inner membrane NA 6 PE1 -NX_Q9H1K6 37758 362 8.54 15 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9H1L0 12410 117 6.4 20 NA NA 0 PE4 -NX_Q9H1M0 20837 184 4.41 X NA NA 0 PE1 -NX_Q9H1M3 20299 183 9.04 20 Secreted NA 0 PE1 -NX_Q9H1M4 11343 99 9.05 20 Secreted NA 0 PE1 -NX_Q9H1N7 44593 401 9.34 6 Golgi apparatus membrane NA 10 PE1 -NX_Q9H1P3 55201 480 5.94 20 Cytosol Deafness, autosomal dominant, 67 0 PE1 -NX_Q9H1P6 15719 137 8.72 20 NA NA 0 PE1 -NX_Q9H1Q7 51782 454 6.41 20 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9H1R2 31882 295 8.77 20 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9H1R3 64685 596 6.6 20 Cytoplasm;Endoplasmic reticulum Cardiomyopathy, familial hypertrophic 0 PE1 -NX_Q9H1U4 62984 602 5.45 9 Cytosol;Nucleus;Membrane NA 1 PE1 -NX_Q9H1U9 33672 297 9.51 9 Mitochondrion inner membrane NA 6 PE1 -NX_Q9H1V8 81001 727 5.68 1 Synaptic vesicle membrane;Nucleus;Golgi apparatus Mental retardation, autosomal recessive 48 12 PE1 -NX_Q9H1X1 31292 276 5.28 6 Cilium axoneme Ciliary dyskinesia, primary, 12 0 PE1 -NX_Q9H1X3 42404 360 9.2 9 Nucleoplasm;Cytosol;Membrane NA 3 PE1 -NX_Q9H1Y0 32447 275 5.48 6 Cytoplasm;Preautophagosomal structure membrane;Centrosome Spinocerebellar ataxia, autosomal recessive, 25 0 PE1 -NX_Q9H1Y3 44873 402 9.3 1 Nucleoplasm;Membrane NA 7 PE1 -NX_Q9H1Z4 53696 485 9.33 X Nucleoplasm;Nucleus;Cell membrane;Microtubule organizing center NA 0 PE1 -NX_Q9H1Z8 17183 148 8.57 2 Secretory vesicle;Secreted NA 0 PE1 -NX_Q9H1Z9 36498 355 5.57 17 Membrane NA 3 PE1 -NX_Q9H201 68222 632 5.64 17 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Perinuclear region;Nucleus;Clathrin-coated vesicle NA 0 PE1 -NX_Q9H204 19520 178 5.39 4 Nucleoplasm;Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_Q9H205 35270 316 8.38 11 Cell membrane NA 7 PE1 -NX_Q9H207 35519 317 9.06 11 Cell membrane NA 7 PE2 -NX_Q9H208 33817 303 9.12 11 Cell membrane NA 7 PE2 -NX_Q9H209 35117 315 7.56 11 Cell membrane NA 7 PE2 -NX_Q9H210 34172 308 9.31 11 Cell membrane NA 7 PE2 -NX_Q9H211 60390 546 9.82 16 Kinetochore;Nucleus Meier-Gorlin syndrome 4 0 PE1 -NX_Q9H213 24441 219 9.05 X Nucleolus NA 0 PE1 -NX_Q9H221 75679 673 8.52 2 Cytoplasmic vesicle;Apical cell membrane;Cell membrane Gallbladder disease 4;Sitosterolemia 6 PE1 -NX_Q9H222 72504 651 9.15 2 Apical cell membrane;Nucleus;Cell membrane Sitosterolemia 6 PE1 -NX_Q9H223 61175 541 6.33 15 Early endosome membrane;Recycling endosome membrane;Cell membrane NA 0 PE1 -NX_Q9H227 53696 469 5.39 4 Cytosol NA 0 PE1 -NX_Q9H228 41775 398 9.86 19 Cell membrane NA 7 PE1 -NX_Q9H237 52318 461 9.08 X Cytoplasmic vesicle;Endoplasmic reticulum membrane Focal dermal hypoplasia 8 PE1 -NX_Q9H239 58939 520 9.7 17 Extracellular matrix NA 0 PE1 -NX_Q9H244 39439 342 9.6 3 Cell membrane Bleeding disorder, platelet-type 8 7 PE1 -NX_Q9H246 13865 121 5.17 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9H251 369494 3354 4.5 10 Cell membrane Pituitary adenoma 5, multiple types;Usher syndrome 1D;Usher syndrome 1D/F;Deafness, autosomal recessive, 12 1 PE1 -NX_Q9H252 109925 994 6.55 17 Membrane NA 6 PE1 -NX_Q9H254 288985 2564 5.72 19 Nucleus;Cytoskeleton;Nucleolus;Cell cortex Myopathy, congenital, with neuropathy and deafness 0 PE1 -NX_Q9H255 35493 320 9.16 11 Cell membrane NA 7 PE2 -NX_Q9H257 62241 536 5.79 9 Cytoplasm Candidiasis, familial, 2 0 PE1 -NX_Q9H267 70585 617 6.29 15 Lysosome membrane;Late endosome membrane;Clathrin-coated vesicle;Recycling endosome;Early endosome Arthrogryposis, renal dysfunction and cholestasis syndrome 1 0 PE1 -NX_Q9H269 94694 839 6.32 20 Lysosome membrane;Late endosome membrane;Clathrin-coated vesicle;Autophagosome;Early endosome NA 0 PE1 -NX_Q9H270 107837 941 6.6 11 Endosome;Lysosome membrane;Cytosol;Cytoplasmic vesicle;Late endosome membrane;Autophagosome;Early endosome;Clathrin-coated vesicle Leukodystrophy, hypomyelinating, 12 0 PE1 -NX_Q9H293 20330 177 8.73 14 Secreted NA 0 PE1 -NX_Q9H295 53393 470 9.41 8 Endoplasmic reticulum membrane;Endosome;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cell membrane NA 6 PE1 -NX_Q9H299 10438 93 4.82 1 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H2A2 53401 487 6.76 6 Cytoplasm;Centrosome NA 0 PE1 -NX_Q9H2A3 28621 272 7.65 4 Nucleus NA 0 PE2 -NX_Q9H2A7 27579 254 9.06 17 Cytoplasmic vesicle;Cell membrane;Golgi apparatus;Secreted NA 1 PE1 -NX_Q9H2A9 48834 424 10.18 19 Golgi apparatus membrane Peeling skin syndrome 3 1 PE1 -NX_Q9H2B2 47958 425 8.72 18 Cytoplasmic vesicle;Synaptic vesicle membrane;Cell membrane NA 1 PE1 -NX_Q9H2B4 75016 701 8.47 4 Cytoskeleton;Basolateral cell membrane;Cell membrane Nephrolithiasis, calcium oxalate 9 PE1 -NX_Q9H2C0 67638 597 5.58 16 Cytoplasm;Cytoskeleton Giant axonal neuropathy 1, autosomal recessive 0 PE1 -NX_Q9H2C1 44406 402 7.87 12 Nucleus NA 0 PE1 -NX_Q9H2C2 31052 271 8.59 1 Endoplasmic reticulum membrane;Cytoplasmic vesicle Epileptic encephalopathy, early infantile, 38 3 PE1 -NX_Q9H2C5 35955 316 9.02 11 Cell membrane NA 7 PE3 -NX_Q9H2C8 36749 321 8.95 11 Cell membrane NA 7 PE3 -NX_Q9H2D1 35407 315 9.49 8 Mitochondrion;Mitochondrion inner membrane Exercise intolerance, riboflavin-responsive 6 PE1 -NX_Q9H2D6 261376 2365 8.86 22 Cytoskeleton;Nucleus;Midbody;Centrosome Deafness, autosomal recessive, 28 0 PE1 -NX_Q9H2E6 114395 1030 8.68 5 Cytoskeleton;Nucleus;Cell membrane NA 1 PE1 -NX_Q9H2F3 41016 369 8.48 16 Endoplasmic reticulum membrane;Lipid droplet Congenital bile acid synthesis defect 1 2 PE1 -NX_Q9H2F5 93463 836 8.77 10 Nucleus NA 0 PE1 -NX_Q9H2F9 38869 335 8.78 18 Centriole;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q9H2G2 142695 1235 5.08 10 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9H2G4 79435 693 4.45 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H2G9 44910 400 8.74 1 Cytoplasm;Nucleus;Golgi apparatus;Golgi apparatus membrane NA 0 PE1 -NX_Q9H2H0 20978 198 9.39 4 Cytoplasm NA 0 PE1 -NX_Q9H2H8 18155 161 6.29 2 Nucleus NA 0 PE1 -NX_Q9H2H9 54048 487 6.6 12 Cell membrane NA 11 PE1 -NX_Q9H2I8 22568 198 6.23 10 Cytosol;Nucleus Albinism, oculocutaneous, 7 0 PE1 -NX_Q9H2J1 18048 176 7.75 9 NA NA 0 PE2 -NX_Q9H2J4 27614 239 4.78 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H2J7 81836 730 5.06 12 Cytoplasmic vesicle;Nucleolus;Membrane NA 12 PE1 -NX_Q9H2K0 31725 278 9.7 13 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q9H2K2 126918 1166 6.76 10 Cytoplasm;Cytoskeleton;Nucleus;Golgi apparatus membrane;Telomere NA 0 PE1 -NX_Q9H2K8 105406 898 6.83 12 Mitochondrion;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9H2L4 15500 133 9.62 7 Membrane NA 4 PE2 -NX_Q9H2L5 36748 321 7.66 10 Nucleolus;Nucleus;Cell junction NA 0 PE1 -NX_Q9H2M3 40354 363 5.61 5 NA NA 0 PE1 -NX_Q9H2M9 155985 1393 5.4 1 Cytosol;Cytoplasm;Cell membrane Warburg micro syndrome 2;Martsolf syndrome 0 PE1 -NX_Q9H2P0 123563 1102 6.97 20 Nucleoplasm;Nucleus Helsmoortel-van der Aa syndrome 0 PE1 -NX_Q9H2P9 31651 285 5.19 1 Golgi apparatus NA 0 PE1 -NX_Q9H2Q1 14539 129 8.65 11 Endoplasmic reticulum;Golgi apparatus;Membrane NA 2 PE2 -NX_Q9H2R5 28087 256 8.27 19 Secreted NA 0 PE1 -NX_Q9H2S1 63760 579 9.58 5 Nucleoplasm;Cytosol;Membrane NA 6 PE1 -NX_Q9H2S5 45525 420 8.69 6 Cytoplasmic vesicle;Cytoplasm;Centrosome;Cell membrane NA 0 PE1 -NX_Q9H2S6 37130 317 5.12 X Cytoplasm;Nucleus envelope;Membrane NA 1 PE1 -NX_Q9H2S9 64106 585 6.39 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H2T7 124375 1088 6.02 5 Cytosol;Cytoplasm;Nuclear pore complex;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9H2U1 114760 1008 7.58 3 Nucleus speckle;Perikaryon;Dendrite;Cytosol;Cytoplasm;Telomere;Axon;Stress granule;Nucleus;Mitochondrion NA 0 PE1 -NX_Q9H2U2 37920 334 7.07 4 Mitochondrion;Nucleus Sudden cardiac failure, infantile;Sudden cardiac failure, alcohol-induced 0 PE1 -NX_Q9H2U6 11474 94 7.64 15 NA NA 0 PE5 -NX_Q9H2U9 85669 754 6.08 8 Membrane NA 1 PE1 -NX_Q9H2V7 56630 528 6.19 16 Endosome;Nucleolus;Golgi apparatus;Cytosol;Endoplasmic reticulum;Cytoplasmic vesicle;Mitochondrion inner membrane NA 12 PE1 -NX_Q9H2W1 26943 248 6.57 11 Membrane NA 4 PE1 -NX_Q9H2W2 24659 232 9.04 1 Nucleus NA 0 PE1 -NX_Q9H2W6 31705 279 6.55 15 Mitochondrion;Nucleoplasm;Cell junction NA 0 PE1 -NX_Q9H2X0 102032 955 8.07 3 Secreted NA 0 PE1 -NX_Q9H2X3 45350 399 5.12 19 Cell membrane;Secreted NA 1 PE1 -NX_Q9H2X6 130966 1198 8.69 7 Cytoplasm;Nucleus;PML body NA 0 PE1 -NX_Q9H2X8 12410 130 5.36 14 Cytosol;Nucleolus;Mitochondrion membrane NA 3 PE1 -NX_Q9H2X9 126184 1139 6.29 20 Membrane Epilepsy, idiopathic generalized 14;Epileptic encephalopathy, early infantile, 34 12 PE1 -NX_Q9H2Y7 208883 1883 6.73 15 Cytosol;Nucleus speckle;Nucleolus;Nucleus NA 0 PE1 -NX_Q9H2Y9 91864 848 7.96 8 Cell membrane NA 12 PE2 -NX_Q9H2Z4 36179 354 9.6 20 Nucleus NA 0 PE1 -NX_Q9H300 42190 379 9.82 3 Mitochondrion;Mitochondrion inner membrane;Nucleus NA 7 PE1 -NX_Q9H305 21892 208 5.55 16 Nucleoplasm;Late endosome membrane;Lysosome membrane;Centrosome NA 0 PE1 -NX_Q9H306 59026 513 8.83 11 Endoplasmic reticulum membrane NA 0 PE1 -NX_Q9H307 81628 717 6.71 14 Nucleus speckle;Desmosome NA 0 PE1 -NX_Q9H310 47231 441 8.74 1 Nucleoplasm;Cytoplasmic vesicle membrane;Basolateral cell membrane NA 12 PE1 -NX_Q9H313 49051 450 4.88 19 Cell membrane NA 5 PE1 -NX_Q9H320 22289 206 4.37 X NA NA 0 PE2 -NX_Q9H321 26878 246 4.2 X NA NA 0 PE2 -NX_Q9H322 14661 139 6.18 X NA NA 0 PE2 -NX_Q9H324 120874 1103 8.34 19 Cytosol;Extracellular matrix Weill-Marchesani syndrome 1 0 PE1 -NX_Q9H329 99712 900 9.17 9 Cytosol;Cytoplasm;Tight junction;Cell membrane NA 0 PE1 -NX_Q9H330 97357 879 9.04 9 Cytosol;Cell membrane;Membrane NA 14 PE1 -NX_Q9H334 75317 677 6.2 3 Nucleoplasm;Nucleus Mental retardation with language impairment and autistic features 0 PE1 -NX_Q9H336 56888 500 8.47 8 Secreted NA 0 PE1 -NX_Q9H339 35241 312 8.59 11 Cell membrane NA 7 PE2 -NX_Q9H340 35269 312 9.26 11 Cell membrane NA 7 PE3 -NX_Q9H341 36669 326 9.1 11 Cell membrane NA 7 PE3 -NX_Q9H342 34838 316 8.5 11 Cell membrane NA 7 PE3 -NX_Q9H343 35484 314 9.22 11 Cell membrane NA 7 PE2 -NX_Q9H344 35002 312 8.98 11 Cell membrane NA 7 PE2 -NX_Q9H346 35122 318 8.57 11 Cell membrane NA 7 PE2 -NX_Q9H347 70841 655 5.01 11 NA NA 0 PE1 -NX_Q9H354 14747 126 10.34 10 Membrane NA 1 PE5 -NX_Q9H361 70031 631 9.68 13 Cytoplasm NA 0 PE1 -NX_Q9H379 10324 93 7.47 9 NA NA 0 PE5 -NX_Q9H3C7 79086 697 5.97 17 Cytoplasmic vesicle;Endoplasmic reticulum NA 0 PE1 -NX_Q9H3D4 76785 680 6.12 3 Nucleoplasm;Cytosol;Nucleus;Golgi apparatus Ectodermal dysplasia, Rapp-Hodgkin type;Acro-dermato-ungual-lacrimal-tooth syndrome;Split-hand/foot malformation 4;Non-syndromic orofacial cleft 8;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3;Limb-mammary syndrome;Ankyloblepharon-ectodermal defects-cleft lip/palate 0 PE1 -NX_Q9H3E2 97945 840 5.99 4 Cytoplasmic vesicle;Endosome membrane NA 0 PE1 -NX_Q9H3F6 35432 313 5.97 12 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9H3G5 54164 476 5.39 7 Endoplasmic reticulum NA 0 PE1 -NX_Q9H3H1 52725 467 8.35 1 Nucleoplasm;Mitochondrion;Cytosol;Cytoplasm Combined oxidative phosphorylation deficiency 35 0 PE1 -NX_Q9H3H3 31430 292 5.92 11 Nucleolus;Nucleus NA 0 PE1 -NX_Q9H3H5 46090 408 8.25 11 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1J;Myasthenic syndrome, congenital, 13 10 PE1 -NX_Q9H3H9 25850 227 5.79 X Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9H3J6 18828 166 9.82 12 Mitochondrion;Cytosol;Nucleus Combined oxidative phosphorylation deficiency 7;Spastic paraplegia 55, autosomal recessive 0 PE1 -NX_Q9H3K2 37205 345 9.95 10 Mitochondrion;Mitochondrion inner membrane NA 7 PE1 -NX_Q9H3K6 10117 86 6.07 16 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H3L0 32940 296 5.16 2 Mitochondrion;Cytoplasm Methylmalonic aciduria and homocystinuria, cblD type 0 PE1 -NX_Q9H3M0 55584 494 5.9 2 Golgi apparatus;Membrane NA 6 PE1 -NX_Q9H3M7 43661 391 7.46 1 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9H3M9 40747 355 4.87 X Nucleus NA 0 PE1 -NX_Q9H3N1 31791 280 4.91 14 Endoplasmic reticulum membrane;Nucleolus;Endoplasmic reticulum;Membrane NA 1 PE1 -NX_Q9H3N8 44496 390 9.62 18 Cell membrane NA 7 PE1 -NX_Q9H3P2 57277 528 9.1 4 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H3P7 60593 528 5.02 1 Mitochondrion;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 -NX_Q9H3Q1 37980 356 5.05 17 Cytoskeleton;Cell membrane;Endomembrane system NA 0 PE1 -NX_Q9H3Q3 46110 398 10.03 2 Golgi stack membrane NA 1 PE1 -NX_Q9H3R0 119982 1056 6.06 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H3R1 100716 872 7.19 4 Golgi apparatus membrane NA 1 PE1 -NX_Q9H3R2 54604 512 4.91 3 Apical cell membrane;Cell membrane;Secreted NA 1 PE1 -NX_Q9H3R5 28481 247 5.23 5 Kinetochore;Nucleolus;Nucleus NA 0 PE1 -NX_Q9H3S1 83574 761 6.38 1 Nucleus;Cell membrane Retinitis pigmentosa 35;Cone-rod dystrophy 10 1 PE1 -NX_Q9H3S3 49560 457 6.24 11 Nucleoplasm;Cell membrane NA 1 PE1 -NX_Q9H3S4 27265 243 5.03 7 Cytoplasmic vesicle Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type 0 PE1 -NX_Q9H3S5 49460 423 9.26 1 Endoplasmic reticulum membrane Glycosylphosphatidylinositol deficiency 10 PE1 -NX_Q9H3S7 178974 1636 6.45 3 Endosome;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Early endosome;Cilium basal body NA 0 PE1 -NX_Q9H3T2 99686 930 8.36 1 Cytosol;Nucleoplasm;Nucleolus;Cell membrane NA 1 PE1 -NX_Q9H3T3 95285 888 8.83 19 Cell membrane NA 1 PE1 -NX_Q9H3U1 103077 944 5.8 15 Cytosol;Cytoplasm;Perinuclear region;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9H3U5 51209 465 6.32 3 Nucleolus;Nucleus;Endoplasmic reticulum;Membrane NA 11 PE1 -NX_Q9H3U7 49674 446 8.8 6 Basement membrane Dentin dysplasia 1 0 PE1 -NX_Q9H3V2 22283 200 6.27 11 Membrane NA 4 PE2 -NX_Q9H3W5 79424 708 8.02 7 Cytosol;Nucleus;Membrane NA 1 PE2 -NX_Q9H3Y0 28605 253 9.25 20 Secreted NA 0 PE2 -NX_Q9H3Y6 54507 488 8.51 20 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q9H3Y8 11777 114 6.89 20 Nucleoplasm;Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q9H3Z4 22149 198 4.93 20 Melanosome;Golgi apparatus;Cell membrane;Membrane Ceroid lipofuscinosis, neuronal, 4B 0 PE1 -NX_Q9H3Z7 52555 469 8.9 20 Nucleoplasm NA 0 PE1 -NX_Q9H400 31288 295 9.7 20 Cell membrane NA 1 PE1 -NX_Q9H410 40067 356 6.57 20 Cytosol;Kinetochore;Nucleolus;Nucleus NA 0 PE1 -NX_Q9H422 133743 1215 7.16 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H425 36346 327 5.6 1 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9H426 29329 269 5.65 20 Nucleoplasm;Synapse NA 0 PE1 -NX_Q9H427 36130 330 9.89 20 Membrane NA 4 PE1 -NX_Q9H444 24950 224 4.76 20 Cytosol;Late endosome membrane;Nucleus envelope;Midbody Cataract 31, multiple types 0 PE1 -NX_Q9H446 27940 243 4.11 6 NA NA 0 PE1 -NX_Q9H461 73300 694 8.58 10 Endoplasmic reticulum;Golgi apparatus;Cell membrane;Membrane NA 7 PE1 -NX_Q9H467 32009 287 4.74 10 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9H469 32998 300 7.13 10 Cytoplasm NA 0 PE1 -NX_Q9H477 34143 322 4.94 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H478 7384 68 9.59 11 NA NA 0 PE2 -NX_Q9H479 35171 309 7.13 17 Mitochondrion NA 0 PE1 -NX_Q9H488 43956 388 8.77 20 Centrosome;Endoplasmic reticulum Dowling-Degos disease 2 0 PE1 -NX_Q9H489 39573 355 8.24 20 NA NA 0 PE5 -NX_Q9H490 50052 435 7.59 20 Cytosol;Nucleoplasm;Endoplasmic reticulum membrane NA 9 PE1 -NX_Q9H492 14272 121 8.73 20 Autophagosome membrane;Cytoskeleton;Autophagosome;Endomembrane system NA 0 PE1 -NX_Q9H496 15348 131 6.88 1 NA NA 0 PE1 -NX_Q9H497 46199 397 5.67 1 Cytoplasm;Endoplasmic reticulum lumen NA 0 PE1 -NX_Q9H4A3 250794 2382 5.94 12 Cytosol;Cytoplasm Neuropathy, hereditary sensory and autonomic, 2A;Pseudohypoaldosteronism 2C 0 PE1 -NX_Q9H4A4 72596 650 5.51 1 Nucleoplasm;Golgi apparatus;Secreted NA 0 PE1 -NX_Q9H4A5 32767 285 5.62 1 Cytosol;Golgi stack membrane;trans-Golgi network membrane;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9H4A6 33811 298 6.05 5 Golgi stack membrane;Endosome;trans-Golgi network membrane;Golgi apparatus;Cell membrane;Cytoplasmic vesicle;Mitochondrion intermembrane space NA 0 PE1 -NX_Q9H4A9 53365 486 6.08 16 Membrane NA 0 PE1 -NX_Q9H4B0 45123 414 8.83 2 Mitochondrion NA 0 PE1 -NX_Q9H4B4 71629 646 9.28 1 Cytoplasm;Nucleolus;Nucleus;Centrosome;Golgi apparatus NA 0 PE1 -NX_Q9H4B6 44634 383 9.12 14 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H4B7 50327 451 5.05 20 Cytoplasm;Cytoskeleton Macrothrombocytopenia, autosomal dominant, TUBB1-related 0 PE1 -NX_Q9H4B8 53687 488 8.11 16 Membrane NA 0 PE1 -NX_Q9H4D0 107006 955 5.21 3 Endoplasmic reticulum membrane;Nucleus membrane;Nucleoplasm;Cell membrane;Golgi apparatus membrane;Cell junction NA 1 PE1 -NX_Q9H4D5 60102 531 6.29 X Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H4E5 23821 214 6.37 14 Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_Q9H4E7 73910 631 5.78 6 Nucleoplasm;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Filopodium;Cytoskeleton NA 0 PE1 -NX_Q9H4F1 34201 302 8.9 9 Golgi apparatus membrane;Nucleus;Golgi apparatus NA 1 PE1 -NX_Q9H4F8 48163 434 8.59 14 Basement membrane;Cell membrane Ophthalmoacromelic syndrome 0 PE1 -NX_Q9H4G0 98503 881 5.43 20 Cytoskeleton;Cell membrane Mental retardation, autosomal dominant 11 0 PE1 -NX_Q9H4G1 17276 147 5.93 20 Secreted NA 0 PE1 -NX_Q9H4G4 17218 154 9.44 9 Cytoplasmic vesicle;Cytoskeleton;Golgi apparatus membrane NA 0 PE1 -NX_Q9H4G8 8721 78 3.96 20 NA NA 0 PE5 -NX_Q9H4H8 64424 585 6.1 20 Cytoplasm;Spindle;Spindle pole NA 0 PE1 -NX_Q9H4I0 63324 556 5.07 20 Nucleus;Chromosome NA 0 PE1 -NX_Q9H4I2 104658 956 5.73 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H4I3 42321 376 8.15 22 Mitochondrion;Nucleus NA 0 PE1 -NX_Q9H4I8 35369 314 6.3 22 Perinuclear region;Peroxisome NA 0 PE1 -NX_Q9H4I9 11441 107 6.56 22 Mitochondrion;Nucleus;Mitochondrion inner membrane NA 1 PE1 -NX_Q9H4K1 37060 309 9.57 22 NA NA 0 PE1 -NX_Q9H4K7 43955 406 9.52 20 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_Q9H4L4 65010 574 8.82 17 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9H4L5 101224 887 6.42 7 Endoplasmic reticulum membrane;Nucleolus;Nucleus membrane;Cytosol;Filopodium tip;Cell membrane NA 0 PE1 -NX_Q9H4L7 117402 1026 5.39 4 Nucleoplasm;Nucleus;Chromosome Basan syndrome;Adermatoglyphia 0 PE1 -NX_Q9H4M3 29747 255 5.52 1 Nucleoplasm NA 0 PE1 -NX_Q9H4M7 85401 779 10.57 19 Cytosol;Cytoplasm;Cell membrane;Membrane;Cytoskeleton;Centrosome NA 0 PE1 -NX_Q9H4M9 60627 534 6.35 11 Cilium membrane;Early endosome membrane;Recycling endosome membrane;Cell membrane NA 0 PE1 -NX_Q9H4P4 35905 317 5.75 12 Nucleus;Midbody ring NA 0 PE1 -NX_Q9H4Q3 73981 707 9 6 Nucleus NA 0 PE2 -NX_Q9H4Q4 40403 367 8.58 9 Nucleus Neuropathy, hereditary sensory and autonomic, 8 0 PE1 -NX_Q9H4R4 11336 102 6.96 20 NA NA 0 PE5 -NX_Q9H4S2 27883 264 9.17 13 Nucleus NA 0 PE2 -NX_Q9H4T2 40792 348 8.36 6 Nucleus NA 0 PE1 -NX_Q9H4W6 64864 596 8.91 10 Nucleus Hypotonia, ataxia, and delayed development syndrome 0 PE1 -NX_Q9H4X1 14559 137 4.59 13 Cytoplasm;Nucleolus;Nucleus;Centrosome NA 0 PE1 -NX_Q9H4Y5 28254 243 7.51 10 Nucleolus;Nucleus NA 0 PE1 -NX_Q9H4Z2 144893 1342 5.97 20 Nucleoplasm;Nucleus Microcephaly 10, primary, autosomal recessive 0 PE1 -NX_Q9H4Z3 80670 704 7.09 20 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9H501 98796 851 5.01 20 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9H503 10309 90 5.5 20 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H511 70246 634 6.3 6 Nucleus NA 0 PE1 -NX_Q9H521 9322 79 4.71 13 NA NA 0 PE5 -NX_Q9H553 47092 416 6.61 9 Cytosol;Cytoskeleton;Membrane Myasthenic syndrome, congenital, 14;Congenital disorder of glycosylation 1I 1 PE1 -NX_Q9H560 30436 264 9.15 9 NA NA 0 PE5 -NX_Q9H568 41360 366 5.78 1 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9H579 54816 483 5.96 20 Nucleus NA 0 PE1 -NX_Q9H582 149565 1327 8.43 1 Cytoplasmic vesicle;Nucleus Myopia 21, autosomal dominant 0 PE1 -NX_Q9H583 242370 2144 6.11 1 Mitochondrion;Nucleolus NA 0 PE1 -NX_Q9H596 21529 190 8.95 X Mitochondrion inner membrane;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H598 57415 525 6.19 20 Cytoplasmic vesicle membrane NA 10 PE1 -NX_Q9H5F2 17785 150 8.68 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H5H4 60229 540 8.27 16 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9H5I1 46682 410 8.55 10 Mitochondrion;Centromere;Nucleus NA 0 PE1 -NX_Q9H5I5 318064 2752 5.82 18 Cytoplasmic vesicle;Membrane Arthrogryposis, distal, 3;Arthrogryposis, distal, 5;Arthrogryposis, distal, with impaired proprioception and touch;Marden-Walker syndrome 37 PE1 -NX_Q9H5J0 61827 574 5.4 11 Mitochondrion;Nucleus NA 0 PE1 -NX_Q9H5J4 31376 265 9.42 4 Endoplasmic reticulum membrane NA 7 PE1 -NX_Q9H5J8 32058 278 8.8 11 Nucleoplasm;Nucleus;Microtubule organizing center NA 0 PE1 -NX_Q9H5K3 40050 350 5.68 8 Endoplasmic reticulum membrane;Cytosol;Nucleus Muscular dystrophy-dystroglycanopathy limb-girdle C12;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 1 PE1 -NX_Q9H5L6 103411 903 9.26 4 Mitochondrion NA 0 PE1 -NX_Q9H5L9 15570 145 8.9 5 NA NA 0 PE5 -NX_Q9H5N1 63543 569 4.76 16 Cytosol;Cytoplasmic vesicle;Cytoplasm;Early endosome NA 0 PE1 -NX_Q9H5P4 111752 1033 9.74 10 Stereocilium;Nucleus;Cilium Usher syndrome 2A;Usher syndrome 2C;Deafness, autosomal recessive, 57 0 PE1 -NX_Q9H5Q4 45349 396 9.3 1 Mitochondrion NA 0 PE1 -NX_Q9H5U6 59010 513 9.06 4 Nucleus speckle;Golgi apparatus NA 0 PE1 -NX_Q9H5V7 46510 419 7.09 10 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q9H5V8 92932 836 8.28 3 Cell membrane;Secreted NA 1 PE1 -NX_Q9H5V9 25625 222 8.94 X Cytoplasm;Nucleus;Centrosome Mental retardation, X-linked 107 0 PE1 -NX_Q9H5X1 18355 160 4.88 15 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9H5Y7 95110 841 6.07 13 Cell membrane;Endoplasmic reticulum Deafness and myopia 1 PE1 -NX_Q9H5Z1 78910 703 8.81 20 Nucleus;Centrosome NA 0 PE1 -NX_Q9H5Z6 50961 455 6.86 2 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H606 19976 182 10.13 Y NA NA 0 PE2 -NX_Q9H607 29404 264 10.01 19 Golgi apparatus NA 0 PE2 -NX_Q9H609 18890 170 8.79 19 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9H611 69799 641 9.81 15 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H628 23855 205 9.56 12 Nucleoplasm NA 0 PE2 -NX_Q9H633 17570 154 9.64 6 Nucleolus NA 0 PE1 -NX_Q9H649 38244 340 9.09 3 Mitochondrion matrix;Nucleoplasm;Nucleus membrane NA 0 PE1 -NX_Q9H665 37895 355 6.7 19 Focal adhesion;Cell membrane NA 1 PE1 -NX_Q9H668 42119 368 5.72 10 Nucleus;Telomere Cerebroretinal microangiopathy with calcifications and cysts 2 0 PE1 -NX_Q9H672 36011 318 8.57 15 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9H693 16793 158 9.83 16 Endoplasmic reticulum NA 0 PE1 -NX_Q9H694 104844 974 8.75 10 Nucleoplasm;Cytoplasm Renal dysplasia, cystic 0 PE1 -NX_Q9H6A0 53672 471 7.55 1 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9H6A9 222039 2034 6.19 11 Cytosol;Membrane NA 13 PE1 -NX_Q9H6B1 42296 395 10.04 3 Nucleus NA 0 PE1 -NX_Q9H6B4 41281 373 8.11 11 Tight junction;Cell membrane Congenital short bowel syndrome 1 PE1 -NX_Q9H6B9 40909 360 7.67 19 Microsome membrane NA 1 PE1 -NX_Q9H6D3 44655 395 7.62 1 Golgi apparatus;Cell membrane;Endoplasmic reticulum NA 8 PE1 -NX_Q9H6D7 42400 363 5.52 14 Spindle;Focal adhesion;Centrosome;Cell membrane NA 0 PE1 -NX_Q9H6D8 25159 234 8.39 2 Nucleoplasm;Cytosol;Secreted;Membrane NA 1 PE2 -NX_Q9H6E4 26561 229 8.89 22 Cytoplasm;Nucleus;Endoplasmic reticulum;Secreted NA 0 PE1 -NX_Q9H6E5 93847 874 5.8 11 Cytosol;Nucleus speckle;Nucleolus;Nucleus NA 0 PE1 -NX_Q9H6F2 33260 299 8.56 19 Nucleus;Nucleus membrane;Sarcoplasmic reticulum membrane NA 7 PE1 -NX_Q9H6F5 40236 360 10.33 11 Nucleolus;Nucleus NA 0 PE1 -NX_Q9H6H4 29395 257 9.74 8 Cytosol;Endoplasmic reticulum membrane NA 2 PE1 -NX_Q9H6I2 44117 414 6 8 Nucleoplasm;Nucleus Vesicoureteral reflux 3 0 PE1 -NX_Q9H6J7 37353 331 5.16 11 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9H6K1 32872 298 4.43 6 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9H6K4 19996 179 9.07 19 Mitochondrion;Cytosol;Nucleoplasm Optic atrophy 3;3-methylglutaconic aciduria 3 0 PE1 -NX_Q9H6K5 132748 1346 10.48 19 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9H6L2 36059 316 7.76 16 Cytoplasmic vesicle;Cilium membrane Meckel syndrome 11;Joubert syndrome 20 2 PE1 -NX_Q9H6L4 21924 198 5.73 17 Cytosol NA 0 PE1 -NX_Q9H6L5 54681 497 4.53 5 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum Neuropathy, hereditary sensory and autonomic, 2B 4 PE1 -NX_Q9H6N6 128290 1097 5.4 7 NA NA 0 PE1 -NX_Q9H6P5 44455 420 7.89 20 Cell membrane NA 0 PE1 -NX_Q9H6Q3 28585 261 5.23 20 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9H6Q4 53020 476 6.81 16 Cytosol;Cell membrane NA 0 PE1 -NX_Q9H6R0 78874 707 9.08 17 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Inflammasome NA 0 PE1 -NX_Q9H6R3 74778 686 8.84 12 Mitochondrion NA 0 PE1 -NX_Q9H6R4 127593 1146 7.42 9 Mitochondrion;Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_Q9H6R6 47663 413 8.81 10 Endoplasmic reticulum membrane NA 4 PE1 -NX_Q9H6R7 79136 721 6.23 2 Cytosol;Nucleolus NA 0 PE1 -NX_Q9H6S0 160248 1430 8.68 5 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9H6S1 44935 392 6.15 3 Cytoplasm NA 0 PE1 -NX_Q9H6S3 80621 715 6.39 11 Cytosol;Cytoplasm;Stereocilium;Cell membrane Deafness, autosomal recessive, 106 0 PE1 -NX_Q9H6T0 78401 727 6.27 16 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H6T3 75719 665 6.46 12 Cytosol NA 0 PE1 -NX_Q9H6U6 101237 928 6.23 17 Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_Q9H6U8 69863 611 8.91 11 Endoplasmic reticulum membrane;Endoplasmic reticulum Gillessen-Kaesbach-Nishimura syndrome;Congenital disorder of glycosylation 1L 8 PE1 -NX_Q9H6V9 37319 325 6.09 2 Cytosol;Nucleus speckle;Lipid droplet;Endoplasmic reticulum NA 0 PE1 -NX_Q9H6W3 71086 641 6.02 14 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q9H6X2 62789 564 7.54 2 Cytoplasmic vesicle;Filopodium membrane;Lamellipodium membrane;Cell membrane GAPO syndrome;Hemangioma, capillary infantile 1 PE1 -NX_Q9H6X4 21586 195 6.08 11 Cytosol;Perinuclear region;Membrane NA 2 PE1 -NX_Q9H6X5 71343 657 5.52 19 Nucleus NA 0 PE1 -NX_Q9H6Y2 42070 383 4.78 5 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9H6Y5 35273 334 10.79 X NA NA 0 PE1 -NX_Q9H6Y7 38299 350 5.37 17 Cytosol;Endomembrane system NA 1 PE1 -NX_Q9H6Z4 60210 567 4.7 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H6Z9 27261 239 7.56 14 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H706 97186 876 6.32 18 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9H707 46198 407 8.84 19 Nucleus NA 0 PE1 -NX_Q9H714 73457 662 5.69 13 Cytosol NA 0 PE1 -NX_Q9H720 78584 699 8.75 4 Membrane NA 10 PE1 -NX_Q9H741 23594 205 8.49 12 Secreted NA 0 PE1 -NX_Q9H756 42334 370 5.01 9 Membrane NA 1 PE1 -NX_Q9H765 31642 288 5.58 12 Cytoplasm NA 0 PE1 -NX_Q9H772 19320 168 9.36 1 Secreted Tooth agenesis, selective, 9 0 PE1 -NX_Q9H773 18681 170 4.93 16 Cytosol;Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q9H777 40019 363 6.32 18 Cytosol;Nucleus NA 0 PE1 -NX_Q9H788 52727 454 8.09 8 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9H790 41816 373 5.28 1 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H792 193106 1746 6.46 15 Focal adhesion;Cytoskeleton NA 0 PE1 -NX_Q9H799 361746 3197 6.55 5 Cytosol;Cilium;Membrane Orofaciodigital syndrome 6;Joubert syndrome 17 2 PE1 -NX_Q9H7B2 35583 306 10 6 Nucleolus;Nucleus NA 0 PE1 -NX_Q9H7B4 49097 428 7.05 1 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9H7B7 14425 122 9.47 7 Secreted NA 0 PE2 -NX_Q9H7C4 55299 482 4.59 1 Cytoplasmic vesicle;Perinuclear region;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q9H7C9 13332 122 8.58 11 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9H7D0 215309 1870 8.08 8 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9H7D7 72124 661 5.74 1 Cytosol;Mitochondrion;Cytoplasm;Nucleus;Nucleoplasm Skraban-Deardorff syndrome 0 PE1 -NX_Q9H7E2 73185 651 9.27 13 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q9H7E9 24993 229 9.99 8 Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q9H7F0 138043 1226 6.21 3 Cytosol;Nucleolus;Cell membrane;Membrane NA 11 PE1 -NX_Q9H7F4 40599 350 7.66 2 Membrane NA 7 PE1 -NX_Q9H7H0 50734 456 9.45 14 Mitochondrion;Nucleus NA 0 PE1 -NX_Q9H7J1 30644 279 11.16 14 Mitochondrion;Spindle;Cytoskeleton NA 0 PE1 -NX_Q9H7L2 38777 352 8.69 19 Secreted NA 0 PE5 -NX_Q9H7L9 38136 328 5.55 12 Cytosol;Nucleus NA 0 PE1 -NX_Q9H7M6 110138 989 6.63 19 NA NA 0 PE1 -NX_Q9H7M9 33908 311 6.45 10 Nucleoplasm;Cell membrane NA 1 PE1 -NX_Q9H7N4 139270 1312 9.31 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H7P6 35620 319 8.42 9 Cytoplasmic vesicle;Endosome;Late endosome membrane;Golgi apparatus NA 0 PE1 -NX_Q9H7P9 147969 1386 5.57 19 Cytosol;Nucleoplasm Leukodystrophy and acquired microcephaly with or without dystonia 0 PE1 -NX_Q9H7R0 72863 627 9.03 19 Cytoplasmic vesicle;Nucleus;Nucleus membrane NA 0 PE2 -NX_Q9H7R5 70223 613 9.4 19 Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9H7S9 58222 590 8.99 8 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H7T0 126924 1116 6.72 14 Cytoplasmic vesicle;Membrane NA 4 PE1 -NX_Q9H7T3 26270 257 11.69 10 NA NA 0 PE1 -NX_Q9H7T9 40253 357 7.19 1 Nucleus;Spindle pole;Chromosome;Centrosome NA 0 PE1 -NX_Q9H7U1 93548 834 6.4 10 Cytosol;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q9H7V2 28551 258 4.74 20 Synapse;Early endosome membrane;Cell membrane;Cytoplasmic vesicle;Dendrite;Dendritic spine;Postsynaptic density NA 1 PE1 -NX_Q9H7X0 27451 242 7.21 16 Cytosol;Cytoskeleton;Golgi apparatus membrane NA 0 PE1 -NX_Q9H7X2 15517 142 9.87 1 Membrane NA 1 PE2 -NX_Q9H7X3 40575 374 9.26 8 Nucleolus;Nucleus NA 0 PE1 -NX_Q9H7X7 20835 185 5.03 7 Cytosol;Cytoskeleton;Cilium NA 0 PE1 -NX_Q9H7Y0 48555 433 8.11 X Secreted NA 0 PE1 -NX_Q9H7Z3 132673 1164 7.72 14 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q9H7Z6 52403 458 8.48 16 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q9H7Z7 41943 377 9.22 9 Mitochondrion;Perinuclear region;Golgi apparatus membrane NA 1 PE1 -NX_Q9H808 63473 572 5.78 19 Cytoplasm Preimplantation embryonic lethality 1 0 PE1 -NX_Q9H813 40043 350 9.01 1 Membrane NA 2 PE1 -NX_Q9H814 44403 394 5.27 5 Nucleoplasm;Cytoplasm;Cajal body NA 0 PE1 -NX_Q9H816 60002 532 8.64 1 Nucleoplasm;Nucleus;Centrosome;Telomere Hoyeraal-Hreidarsson syndrome 0 PE1 -NX_Q9H819 41551 358 7.04 5 Cell junction;Membrane NA 1 PE1 -NX_Q9H825 33387 291 6.46 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H832 38210 354 5.37 17 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9H840 14537 131 6.83 19 Cytosol;Cytoplasm;Nucleus;Gem;Nucleoplasm NA 0 PE1 -NX_Q9H841 40785 368 9.05 8 Membrane NA 9 PE1 -NX_Q9H845 68760 621 8.15 3 Mitochondrion Acyl-CoA dehydrogenase family, member 9, deficiency 0 PE1 -NX_Q9H853 27551 241 7.71 2 Cytoskeleton NA 0 PE5 -NX_Q9H857 60719 520 6.3 3 NA NA 0 PE1 -NX_Q9H867 25807 229 4.83 14 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9H869 87944 796 8.04 1 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Grange syndrome 0 PE1 -NX_Q9H871 43993 391 5.71 2 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9H875 20997 184 9.78 7 Cytosol;Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q9H892 78756 705 5.5 11 Nucleoplasm NA 0 PE1 -NX_Q9H898 25833 229 9.49 8 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9H8E8 88844 782 6.14 20 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H8G1 66319 570 8.94 19 Nucleus NA 0 PE1 -NX_Q9H8G2 38368 361 4.63 9 Cytoplasmic vesicle NA 0 PE1 -NX_Q9H8H0 81124 719 5.74 17 Nucleolus NA 0 PE1 -NX_Q9H8H2 94087 851 10.01 9 Cytoplasmic vesicle;Nucleolus;Golgi apparatus NA 0 PE1 -NX_Q9H8H3 28319 244 8.7 12 Lipid droplet;Endoplasmic reticulum;Membrane NA 0 PE1 -NX_Q9H8J5 46810 431 6.09 12 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 1 PE1 -NX_Q9H8K7 49249 445 5.85 10 NA NA 0 PE1 -NX_Q9H8L6 104409 949 5.56 10 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_Q9H8M1 27071 238 9.67 2 Cytosol;Mitochondrion inner membrane NA 0 PE1 -NX_Q9H8M2 67000 597 5.81 5 Nucleoplasm NA 0 PE1 -NX_Q9H8M5 96623 875 6 10 Cytoplasmic vesicle;Cell membrane Hypomagnesemia 6;Hypomagnesemia, seizures, and mental retardation 3 PE1 -NX_Q9H8M7 49725 445 4.69 10 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9H8M9 17470 152 6.44 2 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Lysosome membrane;Cell membrane NA 1 PE1 -NX_Q9H8N7 54939 513 7.17 8 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H8P0 36521 318 9.49 4 Endoplasmic reticulum membrane;Cytosol;Cell membrane Kahrizi syndrome;Congenital disorder of glycosylation 1Q 6 PE1 -NX_Q9H8Q6 16103 139 9.14 15 NA NA 0 PE5 -NX_Q9H8S5 33574 307 8.96 19 NA NA 0 PE2 -NX_Q9H8S9 25080 216 6.45 2 NA NA 0 PE1 -NX_Q9H8T0 33128 292 9.34 16 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9H8U3 25184 227 7.43 6 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H8V3 103505 914 7.77 3 Cleavage furrow;Cytosol;Cytoplasm;Cell junction;Nucleus;Spindle;Midbody;Tight junction NA 0 PE1 -NX_Q9H8V8 14815 135 11.93 4 NA NA 0 PE5 -NX_Q9H8W2 13851 130 12.08 6 NA NA 0 PE5 -NX_Q9H8W3 27021 233 7.69 10 Nucleolus;Nucleus NA 0 PE1 -NX_Q9H8W4 27798 249 8.55 8 Endosome;Early endosome membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q9H8W5 64359 580 8.26 1 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9H8X2 56017 491 8.67 9 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H8X3 13648 128 8.17 6 NA NA 0 PE5 -NX_Q9H8X9 45975 412 8.65 5 Membrane NA 4 PE1 -NX_Q9H8Y1 78260 702 9.17 14 Nucleoplasm NA 0 PE1 -NX_Q9H8Y5 80927 726 8.69 2 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9H8Y8 47145 452 4.73 2 Endoplasmic reticulum membrane;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 -NX_Q9H900 67214 591 5.85 15 Kinetochore NA 0 PE1 -NX_Q9H902 22255 201 9.52 2 Mitochondrion membrane;Endoplasmic reticulum;Membrane Neuronopathy, distal hereditary motor, 5B;Spastic paraplegia 31, autosomal dominant 2 PE1 -NX_Q9H903 37315 347 9.38 4 Cytoplasm;Mitochondrion inner membrane NA 0 PE1 -NX_Q9H910 20063 190 9.3 16 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9H920 37882 327 6.6 11 Cytoplasmic vesicle;Nucleus;Golgi apparatus;Membrane NA 6 PE1 -NX_Q9H930 67005 580 8.79 2 Nucleoplasm NA 0 PE1 -NX_Q9H936 34470 323 9.42 11 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane Epileptic encephalopathy, early infantile, 3 6 PE1 -NX_Q9H939 38858 334 8.72 18 Mitochondrion;Cytoplasm;Nucleus;Cell membrane;Membrane NA 0 PE1 -NX_Q9H944 23222 212 6.42 6 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q9H963 15019 129 9.39 19 Nucleus NA 0 PE5 -NX_Q9H967 69769 626 9.35 15 Nucleolus;Nucleus NA 0 PE1 -NX_Q9H972 58697 538 5.71 14 Nucleus;Cell membrane;Secreted NA 0 PE1 -NX_Q9H974 46713 415 6.36 3 Nucleoplasm;Cytoplasm;Cytoskeleton;Mitochondrion outer membrane NA 0 PE1 -NX_Q9H977 35891 334 5.77 2 Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_Q9H981 70484 624 7.86 3 Nucleus;Centrosome;Chromosome NA 0 PE1 -NX_Q9H987 102481 977 9.77 10 Cytosol;Nucleus speckle;Cytoskeleton;Cell junction NA 0 PE1 -NX_Q9H992 78051 704 6.32 2 Cytosol;Cell membrane NA 0 PE1 -NX_Q9H993 51172 441 5.48 6 Cytosol;Nucleus NA 0 PE1 -NX_Q9H999 41094 370 6.13 5 Nucleoplasm;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q9H9A5 82310 744 7.95 3 Cytosol;Cytoplasm;Nucleus;Centrosome;Nucleoplasm NA 0 PE1 -NX_Q9H9A6 68250 602 6.04 1 Nucleolus NA 0 PE1 -NX_Q9H9A7 70144 625 4.86 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H9B1 141466 1298 5.5 9 Nucleoplasm;Nucleus;Chromosome Kleefstra syndrome 1 0 PE1 -NX_Q9H9B4 35619 322 9.22 5 Mitochondrion;Mitochondrion membrane NA 5 PE1 -NX_Q9H9C1 57005 493 6.94 14 Cytoplasmic vesicle;Cytoplasm;Recycling endosome;Late endosome;Early endosome Arthrogryposis, renal dysfunction and cholestasis syndrome 2 0 PE1 -NX_Q9H9D4 78439 720 6.88 11 Cytosol;Nucleus;Microtubule organizing center Retinitis pigmentosa 72;Vitreoretinopathy, exudative 6 0 PE1 -NX_Q9H9E1 34272 313 4.99 5 Cytoskeleton;Cell junction;Cell membrane;Membrane NA 0 PE1 -NX_Q9H9E3 89083 785 5.09 16 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2J 0 PE1 -NX_Q9H9F9 68297 607 5.17 20 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H9G7 97360 860 9.26 1 Cytosol;Nucleoplasm;P-body NA 0 PE1 -NX_Q9H9H4 31307 285 6.78 12 Late endosome membrane NA 0 PE1 -NX_Q9H9H5 21005 199 10.08 3 Cytosol;Cytoskeleton;Golgi apparatus NA 0 PE1 -NX_Q9H9J2 37535 332 8.65 2 Mitochondrion;Nucleus;Cell membrane Combined oxidative phosphorylation deficiency 16 0 PE1 -NX_Q9H9J4 145392 1324 8.87 7 Nucleus NA 0 PE1 -NX_Q9H9K5 63547 563 8.16 4 Cytosol;Nucleus;Cell membrane;Secreted NA 1 PE1 -NX_Q9H9L3 39154 353 9.94 1 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q9H9L4 55042 492 6.18 12 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9H9L7 21867 192 8.91 1 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9H9P2 30431 273 6.38 21 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum;Membrane NA 1 PE1 -NX_Q9H9P5 73828 680 8.42 16 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H9P8 50316 463 8.45 14 Mitochondrion L-2-hydroxyglutaric aciduria 0 PE1 -NX_Q9H9Q2 29622 264 5.83 2 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H9Q4 33337 299 5.65 2 Nucleolus;Nucleus Severe combined immunodeficiency due to NHEJ1 deficiency 0 PE1 -NX_Q9H9R9 17042 158 4.26 16 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q9H9S0 34620 305 6.32 12 Nucleus NA 0 PE1 -NX_Q9H9S3 52248 476 8.31 10 Endoplasmic reticulum membrane NA 10 PE1 -NX_Q9H9S4 39088 337 8.49 13 Cytoplasmic vesicle NA 0 PE1 -NX_Q9H9S5 54568 495 7.05 19 Rough endoplasmic reticulum;Golgi apparatus;Secreted;Cytosol;Cytoplasm;Golgi apparatus membrane;Sarcolemma;Nucleus Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5;Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5;Muscular dystrophy-dystroglycanopathy limb-girdle C5 1 PE1 -NX_Q9H9T3 62259 547 9.04 8 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H9V4 17475 155 8.21 8 Endoplasmic reticulum;Golgi apparatus;Membrane NA 1 PE1 -NX_Q9H9V9 52493 463 5.79 1 Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q9H9Y2 40111 349 10.01 1 Nucleolus NA 0 PE1 -NX_Q9H9Y4 34561 310 5.07 1 NA NA 0 PE1 -NX_Q9H9Y6 128229 1135 8.07 2 Cytosol;Nucleolus NA 0 PE1 -NX_Q9H9Z2 22743 209 8.35 1 P-body;Stress granule;Cytoplasm;Nucleoplasm;Nucleolus;Rough endoplasmic reticulum NA 0 PE1 -NX_Q9HA38 32059 289 9.12 3 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9HA47 31435 277 6.8 9 Nucleus NA 0 PE1 -NX_Q9HA64 34412 309 6.84 17 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9HA65 72728 648 5.05 19 Autophagosome NA 0 PE1 -NX_Q9HA72 36175 323 7.61 10 Mitochondrion;Nucleoplasm;Cytosol;Membrane NA 4 PE1 -NX_Q9HA77 62224 564 8.58 13 Mitochondrion;Mitochondrion matrix;Nucleoplasm Combined oxidative phosphorylation deficiency 27 0 PE1 -NX_Q9HA82 46399 394 9.19 19 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nucleus;Nucleus membrane;Endoplasmic reticulum NA 6 PE1 -NX_Q9HA90 65701 598 5.44 3 NA NA 0 PE1 -NX_Q9HA92 48714 442 7.7 17 Mitochondrion;Cytosol;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9HAA7 14475 133 9.61 21 NA NA 0 PE5 -NX_Q9HAB3 45777 445 6.73 8 Cell membrane Brown-Vialetto-Van Laere syndrome 2 11 PE1 -NX_Q9HAB8 34005 311 6.26 1 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q9HAC7 48462 445 8.54 7 Mitochondrion Glutaric aciduria 3 0 PE1 -NX_Q9HAC8 25938 227 7.69 10 Cytosol;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q9HAD4 51728 459 5.25 5 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9HAE3 24488 211 4.91 8 Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q9HAF1 21635 191 9.32 1 Kinetochore;Nucleolus NA 0 PE1 -NX_Q9HAH1 51581 456 9.94 19 Nucleus NA 0 PE1 -NX_Q9HAH7 48388 460 9.96 16 Nucleoplasm NA 0 PE1 -NX_Q9HAI6 33894 301 4.94 X Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9HAJ7 20877 183 9.43 5 Nucleolus;Nucleus NA 0 PE1 -NX_Q9HAK2 62650 575 9.21 8 Nucleus NA 0 PE1 -NX_Q9HAN9 31932 279 8.98 1 Nucleoplasm;Nucleus Leber congenital amaurosis 9 0 PE1 -NX_Q9HAP2 101185 919 8.61 12 Cytoplasm;Nucleus;Mitochondrion outer membrane NA 0 PE1 -NX_Q9HAP6 22896 207 8.71 19 Synaptosome;Basolateral cell membrane;Cell membrane;Postsynaptic density;Cell junction;Tight junction NA 0 PE1 -NX_Q9HAQ2 89986 790 6.71 3 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_Q9HAR2 161812 1447 5.99 4 Axon;Cell junction;Cell membrane NA 7 PE1 -NX_Q9HAS0 44622 396 4.98 17 Cytosol;Cytoplasmic vesicle;Golgi apparatus;trans-Golgi network NA 0 PE1 -NX_Q9HAS3 76930 691 7.56 9 Endoplasmic reticulum membrane;Cell membrane NA 13 PE1 -NX_Q9HAT0 23893 212 5.52 3 Flagellum NA 0 PE1 -NX_Q9HAT1 57129 526 7.73 15 Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE2 -NX_Q9HAT2 58315 523 6.93 11 Secreted;Lysosome Autoimmune disease 6 0 PE1 -NX_Q9HAT8 46435 420 6.97 14 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_Q9HAU0 127464 1116 7.2 12 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9HAU4 86196 748 8.18 17 Nucleus speckle;Nucleus;Membrane raft;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q9HAU5 147810 1272 5.5 10 Cytosol;Cytoplasm;Perinuclear region NA 0 PE1 -NX_Q9HAU6 15994 139 5.42 8 NA NA 0 PE5 -NX_Q9HAU8 80000 725 5.06 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q9HAV0 37567 340 5.59 3 NA Charcot-Marie-Tooth disease, dominant, intermediate type, F 0 PE1 -NX_Q9HAV4 136311 1204 5.56 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9HAV5 32759 297 4.91 X Cell junction;Membrane NA 1 PE1 -NX_Q9HAV7 24279 217 8.24 4 Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_Q9HAW0 46533 419 8.29 8 Nucleolus;Nucleus NA 0 PE1 -NX_Q9HAW4 151094 1339 4.74 1 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9HAW7 59819 530 7.88 2 Endoplasmic reticulum membrane;Microsome NA 1 PE1 -NX_Q9HAW8 59810 530 6.88 2 Endoplasmic reticulum membrane;Microsome NA 1 PE1 -NX_Q9HAW9 59742 530 7.6 2 Endoplasmic reticulum membrane;Microsome NA 1 PE1 -NX_Q9HAY2 35222 307 9.71 3 Cytoskeleton NA 0 PE1 -NX_Q9HAY6 62637 547 6.21 16 Cytoskeleton;Microtubule organizing center Hypercarotenemia and vitamin A deficiency, autosomal dominant 0 PE1 -NX_Q9HAZ1 57492 481 8.92 5 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9HAZ2 140251 1276 5.81 1 Nucleoplasm;Nucleus Cardiomyopathy, dilated 1LL;Left ventricular non-compaction 8 0 PE1 -NX_Q9HB03 31500 270 9.55 10 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cytosol NA 7 PE1 -NX_Q9HB07 42449 376 6.19 12 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9HB09 36821 334 9.45 19 Cytosol NA 0 PE1 -NX_Q9HB14 45391 408 8.73 14 Nucleus speckle;Cell junction;Membrane NA 4 PE1 -NX_Q9HB15 46889 430 9.89 2 Membrane NA 4 PE1 -NX_Q9HB19 47255 425 8.92 8 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9HB20 33861 300 6.19 2 trans-Golgi network membrane;Golgi apparatus NA 0 PE1 -NX_Q9HB21 45553 404 8.77 10 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9HB29 65405 575 7.24 2 Membrane NA 1 PE1 -NX_Q9HB31 22879 216 9.12 17 Nucleus NA 0 PE3 -NX_Q9HB40 50831 452 5.6 17 Golgi apparatus;Secreted NA 0 PE1 -NX_Q9HB55 57670 503 8.27 7 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_Q9HB58 78396 689 9.1 2 Nucleus Hepatic venoocclusive disease with immunodeficiency 0 PE1 -NX_Q9HB63 70071 628 8.44 12 Basement membrane NA 0 PE1 -NX_Q9HB65 45361 397 5.73 15 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9HB71 26210 228 8.28 1 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9HB75 99712 910 6.01 11 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9HB89 47351 426 9.06 2 Cell membrane NA 7 PE2 -NX_Q9HB90 44224 399 4.94 1 Cytoplasmic vesicle;Cytoplasm;Nucleus;Lysosome NA 0 PE1 -NX_Q9HB96 58711 536 5.17 6 Nucleoplasm;Nucleus Fanconi anemia complementation group E 0 PE1 -NX_Q9HBA0 98281 871 7.83 12 Adherens junction;Apical cell membrane;Cilium;Endoplasmic reticulum;Cell membrane Parastremmatic dwarfism;Charcot-Marie-Tooth disease 2C;Brachyolmia 3;Metatropic dysplasia;Spondylometaphyseal dysplasia Kozlowski type;Scapuloperoneal spinal muscular atrophy;Neuronopathy, distal hereditary motor, 8;Digital arthropathy-brachydactyly, familial;Avascular necrosis of the femoral head, primary 2;Spondyloepiphyseal dysplasia Maroteaux type 6 PE1 -NX_Q9HBA9 50045 442 6.53 11 Cytoplasm NA 0 PE2 -NX_Q9HBB8 88223 845 4.81 11 Microvillus membrane;Apical cell membrane NA 1 PE1 -NX_Q9HBD1 131669 1191 6.43 9 Cytoplasmic vesicle;P-body NA 0 PE1 -NX_Q9HBE1 74060 687 8.71 22 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9HBE4 17923 155 9.42 4 Secreted Immunodeficiency, common variable, 11 0 PE1 -NX_Q9HBE5 59130 538 4.57 16 Cytosol;Cell membrane;Membrane Immunodeficiency 56 1 PE1 -NX_Q9HBF4 87176 777 7.29 14 Golgi stack;Endoplasmic reticulum NA 0 PE1 -NX_Q9HBF5 9024 79 8.52 15 NA NA 0 PE2 -NX_Q9HBG4 96386 840 5.75 7 Cytosol;Apical cell membrane Renal tubular acidosis, distal, autosomal recessive 8 PE1 -NX_Q9HBG6 141825 1241 6.08 3 Cytosol;Nucleoplasm;Cytoplasm;Cilium;Cilium basal body Cranioectodermal dysplasia 1 0 PE1 -NX_Q9HBG7 72139 655 5.36 1 Cell membrane;Membrane NA 1 PE1 -NX_Q9HBH0 23625 211 8.9 12 Cytoskeleton;Nucleus;Cell membrane;Golgi apparatus NA 0 PE1 -NX_Q9HBH1 27013 243 9.48 16 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q9HBH5 36865 336 9.02 2 Cytosol;Nucleoplasm;Endoplasmic reticulum NA 0 PE1 -NX_Q9HBH7 14860 125 6.31 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q9HBH9 51875 465 5.8 19 Cytoplasm;Nucleus;PML body NA 0 PE1 -NX_Q9HBI0 37485 331 5.32 22 Focal adhesion;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9HBI1 41714 364 6.26 22 Cytosol;Cell membrane;Focal adhesion;Sarcomere;Lamellipodium;Cytoskeleton;Z line NA 0 PE1 -NX_Q9HBI5 15007 128 5.67 3 Cytosol;Cell membrane NA 0 PE1 -NX_Q9HBI6 60146 524 6.26 19 Microsome membrane NA 1 PE1 -NX_Q9HBJ0 23616 212 6.23 X Nucleus;Cell membrane;Secreted NA 0 PE1 -NX_Q9HBJ7 104156 922 5.62 19 NA NA 0 PE2 -NX_Q9HBJ8 25235 222 5.43 X Cytoplasmic vesicle;Cell membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q9HBK9 41748 375 5.83 10 Mitochondrion;Cytosol;Nucleus NA 0 PE1 -NX_Q9HBL0 185701 1735 7.55 2 Cell surface;Focal adhesion;Cytoskeleton NA 0 PE1 -NX_Q9HBL6 38171 345 6.26 3 Membrane NA 1 PE2 -NX_Q9HBL7 17201 147 9.58 9 Mitochondrion;Cell membrane NA 2 PE1 -NX_Q9HBL8 33344 299 7.06 16 Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 -NX_Q9HBM0 88665 779 5.11 12 Acrosome;Cytosol;Cell membrane;Nucleoplasm;Nucleus;Adherens junction;Stereocilium membrane NA 2 PE1 -NX_Q9HBM1 26153 224 7.7 2 Kinetochore;Cytosol;Nucleus NA 0 PE1 -NX_Q9HBM6 27622 251 9.58 X Nucleus NA 0 PE1 -NX_Q9HBQ8 15482 144 5.27 12 NA NA 0 PE5 -NX_Q9HBR0 119762 1119 5.51 17 Golgi apparatus;Membrane NA 10 PE1 -NX_Q9HBT6 88993 801 4.54 18 Cell membrane NA 1 PE1 -NX_Q9HBT7 87565 754 8.8 17 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9HBT8 60175 521 8.64 17 Nucleolus;Nucleus NA 0 PE1 -NX_Q9HBU1 27298 254 9.72 9 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9HBU6 50968 452 6.09 12 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9HBU9 40448 364 5.23 3 Sarcolemma;Membrane NA 2 PE1 -NX_Q9HBV1 33870 291 8.12 6 Cytosol;Nucleolus;Membrane NA 3 PE2 -NX_Q9HBV2 32143 294 4.57 6 Acrosome inner membrane NA 1 PE1 -NX_Q9HBW0 39084 351 9.48 19 Cell surface;Cell membrane NA 7 PE1 -NX_Q9HBW1 72717 653 6.58 7 Postsynaptic cell membrane;Golgi apparatus;Membrane NA 1 PE1 -NX_Q9HBW9 77811 690 7.81 1 Cell membrane NA 7 PE1 -NX_Q9HBX3 12922 110 8.84 7 NA NA 0 PE4 -NX_Q9HBX8 104298 967 5.43 1 Nucleoplasm;Cell membrane NA 7 PE1 -NX_Q9HBX9 86975 757 8.39 4 Cell membrane NA 7 PE1 -NX_Q9HBY0 64935 568 8.28 6 Cytoplasmic vesicle;Membrane NA 6 PE1 -NX_Q9HBY8 47604 427 7.16 20 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9HBZ2 78691 717 6.25 15 Nucleus Webb-Dattani syndrome 0 PE1 -NX_Q9HC07 34906 324 6.53 4 Lysosome membrane;trans-Golgi network membrane;Golgi apparatus;Early endosome membrane;Cytoplasmic vesicle;Late endosome membrane;Golgi apparatus membrane Congenital disorder of glycosylation 2K 6 PE1 -NX_Q9HC10 226753 1997 5.49 2 Endoplasmic reticulum membrane;Synaptic vesicle membrane;Basolateral cell membrane;Cell membrane Auditory neuropathy, autosomal recessive, 1;Deafness, autosomal recessive, 9 1 PE1 -NX_Q9HC16 46408 384 8.28 22 Cytoplasm;P-body;Nucleus NA 0 PE1 -NX_Q9HC21 35511 320 9.61 17 Mitochondrion inner membrane Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type;Microcephaly, Amish type 6 PE1 -NX_Q9HC23 14314 129 10.12 3 Secreted Hypogonadotropic hypogonadism 4 with or without anosmia 0 PE1 -NX_Q9HC24 26971 238 6.58 12 Golgi apparatus membrane NA 6 PE1 -NX_Q9HC29 115283 1040 6.3 16 Basolateral cell membrane;Golgi apparatus;Cytosol;Cytoplasm;Membrane;Mitochondrion Blau syndrome;Inflammatory bowel disease 1;Yao syndrome 0 PE1 -NX_Q9HC35 108916 981 5.96 2 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9HC36 47020 420 8.89 17 Mitochondrion NA 0 PE1 -NX_Q9HC38 34793 313 5.4 17 Cytosol;Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q9HC44 52302 474 6.36 1 Nucleoplasm;Focal adhesion;Nucleus;Cell membrane NA 0 PE1 -NX_Q9HC47 8406 74 5.3 18 Membrane NA 2 PE2 -NX_Q9HC52 43396 389 9.92 17 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9HC56 136064 1237 5.26 13 Nucleoplasm;Centrosome;Cell membrane NA 1 PE1 -NX_Q9HC57 23977 220 8.77 16 Secreted NA 0 PE1 -NX_Q9HC58 71992 644 5.19 20 Membrane NA 10 PE1 -NX_Q9HC62 67855 589 9.54 3 Cytosol;Cytoplasm;Nuclear pore complex;Nucleus membrane NA 0 PE1 -NX_Q9HC73 42013 371 5.11 X Cell membrane;Secreted NA 1 PE1 -NX_Q9HC77 153000 1338 6.23 13 Centriole;Nucleoplasm;Centrosome;Cell membrane Microcephaly 6, primary, autosomal recessive;Seckel syndrome 4 0 PE1 -NX_Q9HC78 81083 741 6.03 3 Nucleoplasm;Nucleus Primrose syndrome 0 PE1 -NX_Q9HC84 596340 5762 6.2 11 Cytoplasmic vesicle;Secreted Pulmonary fibrosis, idiopathic 0 PE1 -NX_Q9HC96 74952 672 7.97 2 Cytosol;Nucleoplasm Diabetes mellitus, non-insulin-dependent, 1 0 PE1 -NX_Q9HC97 34072 309 9.06 2 Cell membrane NA 7 PE1 -NX_Q9HC98 35714 313 8.26 9 Nucleus speckle;Nucleoplasm;Cytoplasm;Spindle pole;Microtubule organizing center;Cytosol;Nucleus;Centrosome NA 0 PE1 -NX_Q9HCB6 90973 807 5.85 11 Cytoskeleton;Nucleolus;Nucleus;Extracellular matrix NA 0 PE1 -NX_Q9HCC0 61333 563 7.58 5 Mitochondrion matrix;Mitochondrion 3-methylcrotonoyl-CoA carboxylase 2 deficiency 0 PE1 -NX_Q9HCC6 23523 221 11.11 1 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9HCC8 61729 539 8.77 X Cytoplasm;Cytoskeleton;Cell membrane NA 6 PE1 -NX_Q9HCC9 96490 887 4.99 4 Cytosol;Early endosome membrane;Nucleus;Cell membrane NA 0 PE1 -NX_Q9HCD5 65536 579 9.62 20 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9HCD6 219650 1990 8.31 17 Cytosol NA 0 PE1 -NX_Q9HCE0 292481 2579 5.99 18 Nucleus speckle Vici syndrome 0 PE1 -NX_Q9HCE1 113671 1003 9 1 P-body;Cytosol;Cytoplasm;Cytoplasmic ribonucleoprotein granule;Stress granule;Nucleus NA 0 PE1 -NX_Q9HCE3 141696 1301 8.92 18 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9HCE5 52150 456 5.89 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9HCE6 140379 1279 5.62 1 Cytosol;Cytoplasmic vesicle;Golgi apparatus;Cytoplasm NA 0 PE1 -NX_Q9HCE7 86114 757 6.56 7 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9HCE9 136034 1232 5.62 19 Nucleoplasm;Nucleolus;Cell membrane NA 8 PE1 -NX_Q9HCF6 197571 1732 6.74 9 Membrane NA 7 PE1 -NX_Q9HCG1 94112 818 9.44 19 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9HCG7 104649 927 5.61 9 Endoplasmic reticulum membrane;Cytosol;Golgi apparatus membrane;Golgi apparatus;Nucleoplasm Spastic paraplegia 46, autosomal recessive 0 PE1 -NX_Q9HCG8 105466 908 6.6 2 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9HCH0 139013 1330 8.45 12 Centrosome;Golgi apparatus NA 0 PE1 -NX_Q9HCH3 65734 593 5.65 6 Cytosol;Perikaryon;Cell projection NA 0 PE1 -NX_Q9HCH5 104930 934 7.96 11 Cytoplasm;Nucleus;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q9HCI5 103254 957 5.24 X Cytosol;Perinuclear region;Nucleus;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9HCI6 89673 787 7.78 6 Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9HCI7 62541 577 8.11 3 Cytosol NA 0 PE1 -NX_Q9HCJ0 175964 1690 6.47 17 Nucleus NA 0 PE1 -NX_Q9HCJ1 54241 492 8 5 Cytosol;Membrane Chondrocalcinosis 2;Craniometaphyseal dysplasia, autosomal dominant 8 PE1 -NX_Q9HCJ2 71950 640 6.7 11 Cytosol;Postsynaptic cell membrane NA 1 PE1 -NX_Q9HCJ3 74339 691 7.12 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9HCJ5 133470 1215 7.01 5 Cytosol Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features;Acromelic frontonasal dysostosis 0 PE1 -NX_Q9HCJ6 45899 419 4.98 16 Cytosol NA 0 PE1 -NX_Q9HCK0 49953 441 6.62 9 Nucleus NA 0 PE1 -NX_Q9HCK1 265618 2354 5.79 2 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9HCK4 151200 1378 5.95 3 Membrane;Nucleus;Microtubule organizing center Vesicoureteral reflux 2 1 PE1 -NX_Q9HCK5 97097 861 9.21 1 Nucleoplasm;Cytosol;P-body;Nucleus NA 0 PE1 -NX_Q9HCK8 290519 2581 6.04 14 Nucleoplasm;Nucleus Autism 18 0 PE1 -NX_Q9HCL0 126149 1135 4.99 4 Cytosol;Cell membrane;Golgi apparatus NA 1 PE1 -NX_Q9HCL2 93795 828 7.81 10 Mitochondrion;Mitochondrion outer membrane NA 2 PE1 -NX_Q9HCL3 63463 533 8.92 19 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9HCM1 194857 1747 8.95 12 Cytosol;Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q9HCM2 212455 1894 6.42 7 Cell membrane NA 1 PE1 -NX_Q9HCM3 210755 1950 5.75 7 Cytoskeleton;Nucleus membrane;Membrane NA 2 PE1 -NX_Q9HCM4 81856 733 6.15 2 Cytoplasm;Cell membrane;Adherens junction NA 0 PE1 -NX_Q9HCM7 110907 1045 9.7 12 Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q9HCM9 59690 518 7.8 6 Cytosol;Mitochondrion NA 0 PE1 -NX_Q9HCN2 12935 124 10.26 11 Mitochondrion NA 0 PE2 -NX_Q9HCN3 84761 771 7.67 16 Nucleoplasm;Cytoskeleton;Lysosome membrane;Cell membrane NA 7 PE1 -NX_Q9HCN4 41740 374 4.8 2 Mitochondrion;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9HCN6 36866 339 9.35 19 Nucleoplasm;Cell membrane Bleeding disorder, platelet-type 11 1 PE1 -NX_Q9HCN8 23598 221 6.52 22 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q9HCP0 48511 422 9.13 15 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9HCP6 56703 504 6.67 3 Endoplasmic reticulum membrane NA 8 PE1 -NX_Q9HCQ5 68359 603 8.73 12 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 -NX_Q9HCQ7 22309 196 9.26 7 Secreted NA 0 PE1 -NX_Q9HCR9 104752 933 6.15 2 Cytosol Primary pigmented nodular adrenocortical disease 2 0 PE1 -NX_Q9HCS2 60309 524 7.29 19 Endoplasmic reticulum membrane;Microsome membrane NA 2 PE1 -NX_Q9HCS4 62631 588 9 2 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9HCS5 79059 686 9.44 5 Nucleoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9HCS7 100010 855 5.87 19 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9HCT0 19663 170 11.81 19 Secreted NA 0 PE1 -NX_Q9HCU0 80859 757 5.18 11 Nucleoplasm;Cell membrane;Membrane NA 1 PE1 -NX_Q9HCU4 317453 2923 5.14 1 Cytosol;Cell membrane NA 7 PE1 -NX_Q9HCU5 45468 417 8.02 2 Endoplasmic reticulum membrane;Nucleus;Endoplasmic reticulum NA 1 PE1 -NX_Q9HCU8 12433 107 6.29 11 Cytosol;Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q9HCU9 28461 246 4.69 11 Cytoplasm;Nucleus;Centrosome;Endoplasmic reticulum NA 0 PE1 -NX_Q9HCX3 75047 659 8.73 19 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9HCX4 99562 862 8.02 5 Cytoskeleton;Focal adhesion;Nucleus envelope;Cell membrane NA 6 PE1 -NX_Q9HCY8 11662 104 5.16 1 Cytosol;Cytoplasm;Nucleus;Cell junction;Cell membrane NA 0 PE1 -NX_Q9HCZ1 79649 680 9.33 20 Cytosol;Nucleus NA 0 PE1 -NX_Q9HD15 25673 236 6.54 5 Nucleoplasm;Cytosol;Cytoskeleton;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9HD20 132955 1204 8.46 19 Endoplasmic reticulum membrane;Cytoplasmic vesicle NA 10 PE1 -NX_Q9HD23 50318 443 6.44 6 Mitochondrion inner membrane NA 2 PE1 -NX_Q9HD26 50520 462 5.59 6 Synapse;trans-Golgi network membrane;Golgi apparatus;Cytosol;Cytoplasm;Dendrite;Golgi apparatus membrane;Postsynaptic density NA 0 PE1 -NX_Q9HD33 29450 250 10.38 3 Mitochondrion NA 0 PE1 -NX_Q9HD34 10758 91 10.73 6 Mitochondrion;Nucleus Combined oxidative phosphorylation deficiency 19 0 PE1 -NX_Q9HD36 21973 194 9.63 15 Mitochondrion;Nucleus membrane NA 1 PE1 -NX_Q9HD40 55726 501 8.31 4 Cytoplasmic vesicle;Cytoplasm Pontocerebellar hypoplasia 2D 0 PE1 -NX_Q9HD42 21703 196 7.77 16 Endosome membrane;Cytoplasm;Nucleus matrix Pontocerebellar hypoplasia 8 0 PE1 -NX_Q9HD43 122353 1115 5.16 19 Mitochondrion;Cytoplasm;Microvillus membrane;Apical cell membrane NA 1 PE1 -NX_Q9HD45 67888 589 6.83 10 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 9 PE1 -NX_Q9HD47 20448 186 4.8 17 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus;Cell membrane NA 0 PE1 -NX_Q9HD64 9078 81 9.65 X Nucleus speckle NA 0 PE1 -NX_Q9HD67 237347 2058 5.85 5 Nucleolus;Ruffle;Cytosol;Cell cortex;Filopodium tip;Cell membrane;Filopodium membrane;Lamellipodium;Cytoskeleton NA 0 PE1 -NX_Q9HD87 12368 102 8.35 6 Membrane NA 1 PE5 -NX_Q9HD89 11419 108 6.52 19 Secreted NA 0 PE1 -NX_Q9HD90 37041 331 6.37 12 Nucleus NA 0 PE1 -NX_Q9HDB5 69305 637 6.75 14 Membrane NA 1 PE1 -NX_Q9HDB8 27904 245 5.6 3 Virion NA 0 PE2 -NX_Q9HDB9 73588 667 9.26 3 Cell membrane NA 0 PE1 -NX_Q9HDC5 71686 661 9.37 8 Endoplasmic reticulum membrane;Nucleus;Cell membrane;Sarcoplasmic reticulum membrane NA 1 PE1 -NX_Q9HDC9 46480 416 5.82 20 Cell membrane;Membrane NA 1 PE1 -NX_Q9HDD0 18750 168 5.37 3 Cytosol;Focal adhesion;Membrane NA 1 PE2 -NX_Q9N2J8 60911 555 8.88 2 Virion;Cell membrane NA 1 PE2 -NX_Q9N2K0 64318 584 8.61 2 Virion;Cell membrane NA 1 PE2 -NX_Q9NNW5 121725 1121 6.41 3 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9NNW7 56507 524 7.24 22 Cytosol;Cytoplasm;Mitochondrion;Nucleus Glucocorticoid deficiency 5 0 PE1 -NX_Q9NNX1 44264 390 5.68 1 Cytoplasmic vesicle;Cytoplasm;Secreted NA 0 PE1 -NX_Q9NNX6 45775 404 5.43 19 Cell membrane;Secreted NA 1 PE1 -NX_Q9NNX9 20020 186 4.51 X NA NA 0 PE2 -NX_Q9NNZ3 27593 241 10.56 11 Membrane NA 1 PE1 -NX_Q9NNZ6 11232 103 4.56 16 Nucleus;Chromosome NA 0 PE1 -NX_Q9NP08 36155 348 6.28 4 Nucleus Oculoauricular syndrome 0 PE1 -NX_Q9NP31 42934 389 6.96 1 Cytoplasm NA 0 PE1 -NX_Q9NP50 24852 221 9.51 12 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9NP55 26713 256 5.42 20 Secreted NA 0 PE1 -NX_Q9NP56 51835 450 6.54 6 Nucleoplasm NA 0 PE1 -NX_Q9NP58 93886 842 8.75 2 Endoplasmic reticulum membrane;Golgi apparatus;Cytosol;Cell membrane;Mitochondrion outer membrane;Endosome membrane;Nucleoplasm;Golgi apparatus membrane;Mitochondrion Dyschromatosis universalis hereditaria 3;Microphthalmia, isolated, with coloboma, 7;Pseudohyperkalemia, familial, 2, due to red cell leak 10 PE1 -NX_Q9NP59 62542 571 6.08 2 Cytosol;Nucleoplasm;Cell membrane Hemochromatosis 4 10 PE1 -NX_Q9NP60 78670 686 6.05 X Membrane NA 1 PE2 -NX_Q9NP61 56928 516 7.04 22 Cytosol;Cytoplasm;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 -NX_Q9NP62 49268 436 6.57 6 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9NP64 27570 241 9.72 1 Nucleus speckle;Nucleolus NA 0 PE1 -NX_Q9NP66 40144 347 6.08 15 Nucleus NA 0 PE1 -NX_Q9NP70 48283 447 4.79 4 Extracellular matrix Amelogenesis imperfecta 1F 0 PE1 -NX_Q9NP71 93073 852 8.7 7 Nucleus NA 0 PE1 -NX_Q9NP72 22977 206 5.11 10 Cytoplasm;Nucleus;Cell membrane Warburg micro syndrome 3 0 PE1 -NX_Q9NP73 126056 1137 6.28 X Endoplasmic reticulum Epileptic encephalopathy, early infantile, 36 0 PE1 -NX_Q9NP74 62758 551 5.31 1 Cytoplasm;Cell membrane;Dendrite;Focal adhesion;Dendritic spine;Cytoskeleton NA 0 PE1 -NX_Q9NP77 22574 194 5.16 1 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NP78 84475 766 8 12 Cytoplasmic vesicle;Lysosome membrane NA 8 PE1 -NX_Q9NP79 33879 307 5.87 6 Nucleoplasm;Cytoplasmic vesicle;Endosome membrane;Cytosol;Cytoplasm NA 0 PE1 -NX_Q9NP80 88477 782 9.31 7 Endoplasmic reticulum membrane;Golgi apparatus;Nucleoplasm;Cytosol;Perinuclear region;Golgi apparatus membrane;Cytoskeleton Mitochondrial myopathy with lactic acidosis 1 PE1 -NX_Q9NP81 58283 518 8.35 19 Mitochondrion matrix Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 0 PE1 -NX_Q9NP84 13911 129 9.37 16 Cytosol;Cell membrane;Membrane NA 1 PE1 -NX_Q9NP85 42201 383 8.95 1 Endoplasmic reticulum;Cell membrane Nephrotic syndrome 2 0 PE1 -NX_Q9NP86 19826 173 4.45 19 Cytoplasm NA 0 PE1 -NX_Q9NP87 54816 494 8.74 7 Nucleus NA 0 PE1 -NX_Q9NP90 22719 201 4.74 X Phagosome membrane;Cell membrane;Phagosome NA 0 PE1 -NX_Q9NP91 65914 592 6.25 3 Apical cell membrane Hyperglycinuria;Iminoglycinuria 12 PE1 -NX_Q9NP92 50365 439 8.21 5 Cytosol;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q9NP94 32742 309 5.85 14 Cell membrane NA 8 PE1 -NX_Q9NP95 23499 211 8.89 8 Secreted Renal hypodysplasia/aplasia 2 0 PE1 -NX_Q9NP97 10922 96 6.58 20 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q9NP98 31745 299 8.86 10 Nucleus;Pseudopodium NA 0 PE1 -NX_Q9NP99 26387 234 9 6 Cell membrane;Secreted NA 1 PE1 -NX_Q9NPA0 26471 242 9.24 15 Nucleoplasm;Membrane NA 1 PE1 -NX_Q9NPA1 31604 279 6.88 3 Mitochondrion;Nucleus;Membrane NA 2 PE1 -NX_Q9NPA2 62554 562 8.76 16 Cell membrane;Extracellular matrix NA 0 PE1 -NX_Q9NPA3 20202 183 5.25 X Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9NPA5 74644 681 8.77 20 Nucleus NA 0 PE1 -NX_Q9NPA8 11529 101 9.39 8 Nucleoplasm;Mitochondrion;Nuclear pore complex;Nucleus NA 0 PE1 -NX_Q9NPB0 20163 183 8.95 6 Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA 1 PE1 -NX_Q9NPB1 25862 228 8.21 17 Mitochondrion NA 0 PE1 -NX_Q9NPB3 24482 220 4.6 11 Perinuclear region;Cell membrane;Golgi apparatus Deafness, autosomal recessive, 93 0 PE1 -NX_Q9NPB6 37388 346 9.29 16 Ruffle;Cytosol;Cytoplasm;Cell membrane;Centrosome;Centriolar satellite;Cytoskeleton;Cell junction;Tight junction NA 0 PE1 -NX_Q9NPB8 76035 672 5.34 20 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9NPB9 39914 350 8.8 3 Mitochondrion;Cytoplasmic vesicle;Recycling endosome;Cell membrane;Early endosome NA 7 PE1 -NX_Q9NPC1 41525 389 11 14 Nucleoplasm;Cell membrane NA 7 PE1 -NX_Q9NPC2 42264 374 8.85 8 Cell membrane Birk-Barel mental retardation dysmorphism syndrome 4 PE1 -NX_Q9NPC3 31544 277 8.59 14 Nucleus;Chromosome NA 0 PE1 -NX_Q9NPC4 40499 353 9.16 22 Mitochondrion;Golgi apparatus membrane NA 1 PE1 -NX_Q9NPC6 29898 264 7.86 4 Cytosol;Nucleus;Z line Cardiomyopathy, familial hypertrophic 16 0 PE1 -NX_Q9NPC7 68682 610 8.56 3 Nucleus NA 0 PE1 -NX_Q9NPC8 32286 291 9.14 2 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9NPD3 26383 245 6.07 8 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NPD5 77403 702 9.01 12 Basolateral cell membrane;Cell membrane Hyperbilirubinemia, Rotor type 12 PE1 -NX_Q9NPD7 15333 142 6.54 6 Synapse;Cell membrane NA 0 PE1 -NX_Q9NPD8 22521 197 7.78 1 Nucleolus;Nucleus Fanconi anemia complementation group T 0 PE1 -NX_Q9NPE2 32408 291 9.16 15 Cytoplasm;Nucleus;Mitochondrion membrane;Secreted NA 0 PE1 -NX_Q9NPE3 7706 64 10.01 15 Cajal body;Nucleolus;Nucleus Dyskeratosis congenita, autosomal recessive, 1 0 PE1 -NX_Q9NPE6 48165 437 6.65 20 Cytoskeleton;Flagellum axoneme;Nucleus inner membrane;Nucleus envelope;Membrane NA 2 PE1 -NX_Q9NPF0 28991 282 4.61 19 Cytosol;Cell membrane;Endoplasmic reticulum Methylmalonic aciduria, transient, due to transcobalamin receptor defect 1 PE1 -NX_Q9NPF2 41555 352 9.04 12 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q9NPF4 36427 335 5.94 14 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane Galloway-Mowat syndrome 3 0 PE1 -NX_Q9NPF5 52993 467 9.51 1 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9NPF7 20730 189 6.02 12 Cytosol;Secreted NA 0 PE1 -NX_Q9NPF8 44349 381 9.44 17 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9NPG1 76263 666 7.94 8 Cell surface;Apical cell membrane;Cell membrane;Membrane NA 7 PE1 -NX_Q9NPG2 16933 151 5.42 14 Mitochondrion;Cytoplasm;Perikaryon NA 0 PE1 -NX_Q9NPG3 121520 1134 9.37 16 Nucleoplasm;PML body;Nucleus;Tight junction NA 0 PE1 -NX_Q9NPG4 128995 1184 5.13 5 Cell junction;Cell membrane;Secreted Microcephaly, seizures, spasticity, and brain calcifications 1 PE1 -NX_Q9NPG8 39787 344 7.01 7 Endoplasmic reticulum membrane;Nucleus NA 5 PE1 -NX_Q9NPH0 48886 428 6.04 1 Mitochondrion NA 0 PE1 -NX_Q9NPH2 61068 558 5.52 19 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NPH3 65418 570 8.37 3 Cytosol;Cytoplasmic vesicle;Cell membrane;Secreted NA 1 PE1 -NX_Q9NPH5 66932 578 8.96 11 Endoplasmic reticulum membrane;Focal adhesion;Nucleolus;Nucleus;Cell membrane NA 6 PE1 -NX_Q9NPH6 19457 170 8.91 9 Secreted NA 0 PE1 -NX_Q9NPH9 19843 171 10 12 Secreted NA 0 PE1 -NX_Q9NPI0 19262 162 9.67 11 Cytoskeleton;Vacuole membrane;Cilium Joubert syndrome 16 4 PE1 -NX_Q9NPI1 74139 651 6 16 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9NPI5 26046 230 5.77 19 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q9NPI6 63278 582 5.84 3 Cytosol;P-body;Nucleus NA 0 PE1 -NX_Q9NPI7 30980 259 9.35 2 Cytosol;Nucleolus NA 0 PE1 -NX_Q9NPI8 42254 374 9.11 11 Nucleus Fanconi anemia complementation group F 0 PE1 -NX_Q9NPI9 47949 418 7.98 17 Cytoplasmic vesicle;Basolateral cell membrane;Membrane NA 2 PE1 -NX_Q9NPJ1 62342 570 6.67 20 Cytosol;Cytoplasm;Nucleus;Centrosome McKusick-Kaufman syndrome;Bardet-Biedl syndrome 6 0 PE1 -NX_Q9NPJ3 14960 140 9.23 6 Cytosol;Mitochondrion;Spindle;Nucleus;Cell junction NA 0 PE1 -NX_Q9NPJ4 15591 139 10.4 1 Nucleoplasm;P-body;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9NPJ6 29745 270 5.02 13 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NPJ8 16228 142 5.24 X Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9NPL8 32178 285 8.65 3 Mitochondrion;Nucleus;Mitochondrion membrane NA 4 PE1 -NX_Q9NPP4 116159 1024 6.32 2 Cytosol;Cytoplasm Familial cold autoinflammatory syndrome 4;Autoinflammation with infantile enterocolitis 0 PE1 -NX_Q9NPQ8 59710 531 5.2 11 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9NPR2 92193 832 6.51 15 Membrane NA 1 PE1 -NX_Q9NPR9 60633 543 8.88 19 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 7 PE1 -NX_Q9NPU4 8830 83 3.8 14 Membrane NA 1 PE2 -NX_Q9NPY3 68560 652 5.27 20 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Membrane NA 1 PE1 -NX_Q9NPZ5 36919 323 10.63 6 Golgi apparatus membrane NA 1 PE1 -NX_Q9NQ03 32584 307 9.39 20 Nucleoplasm;Nucleus NA 0 PE2 -NX_Q9NQ11 128794 1180 8.47 1 Lysosome membrane;Lysosome;Membrane Kufor-Rakeb syndrome;Spastic paraplegia 78, autosomal recessive 12 PE1 -NX_Q9NQ25 37421 335 6.02 1 Cytoplasmic vesicle;Endoplasmic reticulum;Membrane NA 1 PE1 -NX_Q9NQ29 43728 371 9.95 16 Mitochondrion;Nucleus NA 0 PE1 -NX_Q9NQ30 20095 184 7.36 5 Secreted NA 0 PE1 -NX_Q9NQ31 23114 210 8.31 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NQ32 51609 467 8.45 11 NA NA 0 PE2 -NX_Q9NQ33 20797 180 8.71 11 Nucleus NA 0 PE2 -NX_Q9NQ34 22531 198 8.35 11 Lysosome membrane;Early endosome membrane NA 1 PE1 -NX_Q9NQ35 26975 241 8.82 11 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9NQ36 109957 999 6.21 11 Cell surface;Secreted NA 0 PE1 -NX_Q9NQ38 120714 1064 8.45 5 Cytoplasmic vesicle;Secreted Netherton syndrome 0 PE1 -NX_Q9NQ39 20120 176 10.13 20 NA NA 0 PE5 -NX_Q9NQ40 50805 469 5.46 20 Cytoplasm;Apical cell membrane;Nucleus membrane;Cell membrane Fazio-Londe disease;Brown-Vialetto-Van Laere syndrome 1 11 PE1 -NX_Q9NQ48 34592 299 5.3 3 Cytosol;Cytoplasm Bardet-Biedl syndrome 17 0 PE1 -NX_Q9NQ50 24490 206 9.62 22 Mitochondrion;Nucleolus NA 0 PE1 -NX_Q9NQ55 53194 473 10.13 19 Nucleolus NA 0 PE1 -NX_Q9NQ60 32840 294 4.89 9 Acrosome membrane;Acrosome outer membrane;Acrosome inner membrane NA 1 PE1 -NX_Q9NQ66 138567 1216 5.9 20 Cytoplasm;Cell membrane;Nucleus membrane Epileptic encephalopathy, early infantile, 12 0 PE1 -NX_Q9NQ69 43976 397 9 1 Nucleus NA 0 PE1 -NX_Q9NQ75 87144 786 6.66 20 Focal adhesion;Cytoskeleton NA 0 PE1 -NX_Q9NQ76 58419 525 8.62 4 Extracellular matrix NA 0 PE1 -NX_Q9NQ79 71421 661 4.95 10 Extracellular matrix NA 0 PE1 -NX_Q9NQ84 48193 441 8.72 17 Cytosol;Cytoplasmic vesicle membrane;Nucleus;Cell membrane;Microtubule organizing center NA 7 PE1 -NX_Q9NQ86 83013 728 5.77 5 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Acrosome Anencephaly 0 PE1 -NX_Q9NQ87 35087 328 10.69 1 Mitochondrion;Cytosol;Nucleus NA 0 PE1 -NX_Q9NQ88 30063 270 7.6 12 Cytosol;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q9NQ89 63801 552 5.94 12 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NQ90 113969 1003 6.12 12 Nucleoplasm;Cell membrane NA 8 PE1 -NX_Q9NQ92 20066 184 4.06 17 Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q9NQ94 65202 594 8.6 10 Nucleoplasm;Cytoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q9NQA3 47990 447 5.48 X Early endosome membrane;Recycling endosome membrane NA 0 PE1 -NX_Q9NQA5 82551 729 6.01 7 Apical cell membrane NA 6 PE1 -NX_Q9NQB0 67919 619 8.73 10 Nucleoplasm;PML body;Nucleus Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_Q9NQC1 87466 790 5.15 5 Nucleoplasm NA 0 PE1 -NX_Q9NQC3 129931 1192 4.43 2 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cell membrane;Nucleus membrane NA 2 PE1 -NX_Q9NQC7 107316 956 5.42 16 Nucleoplasm;Cytoplasm;Cell membrane;Centrosome;Perinuclear region;Spindle;Microtubule organizing center;Cytoskeleton;Cilium basal body Cylindromatosis, familial;Brooke-Spiegler syndrome;Multiple familial trichoepithelioma 1 0 PE1 -NX_Q9NQC8 34286 304 4.37 11 Cytoplasm;Cytoskeleton;Cilium;Cilium basal body NA 0 PE1 -NX_Q9NQE7 55049 514 8.28 6 Cytoplasmic vesicle NA 0 PE2 -NX_Q9NQE9 20361 182 6.12 6 Cytosol;Cytoplasm;Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NQF3 22471 203 6.64 22 NA NA 0 PE2 -NX_Q9NQG1 9467 85 9.21 20 Mitochondrion;Nucleus;Membrane NA 1 PE1 -NX_Q9NQG5 36900 326 5.73 20 Cytosol;Nucleoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q9NQG6 51293 463 7.55 22 Mitochondrion;Cytoskeleton;Mitochondrion outer membrane NA 1 PE1 -NX_Q9NQG7 76919 708 5.26 22 Centrosome Hermansky-Pudlak syndrome 4 0 PE1 -NX_Q9NQH7 57034 507 6.37 22 Mitochondrion;Cytoplasm Nephronophthisis-like nephropathy 1 0 PE1 -NX_Q9NQI0 79308 724 5.62 5 Cytoplasm;Perinuclear region NA 0 PE1 -NX_Q9NQL2 45588 400 4.76 6 Nucleoplasm;Cytoplasm;Nucleus;Centrosome;Lysosome NA 0 PE1 -NX_Q9NQL9 51199 472 7 9 Nucleus NA 0 PE1 -NX_Q9NQM4 24069 214 3.99 X Cytoplasm Ciliary dyskinesia, primary, 36, X-linked 0 PE1 -NX_Q9NQN1 35172 319 8.37 9 Cell membrane NA 7 PE2 -NX_Q9NQP4 15314 134 4.42 20 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NQQ7 40432 365 8.31 20 Nucleoplasm;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus;Membrane NA 8 PE1 -NX_Q9NQR1 42890 393 9.69 12 Cytosol;Nucleus;Chromosome NA 0 PE1 -NX_Q9NQR4 30608 276 6.83 3 Cytosol;Cytoplasm;Centrosome NA 0 PE1 -NX_Q9NQR7 79739 707 10.74 14 NA NA 0 PE1 -NX_Q9NQR9 40580 355 8.64 2 Endoplasmic reticulum membrane NA 9 PE1 -NX_Q9NQS1 38506 362 4.9 15 Cytoskeleton;Centrosome;Cell membrane;Endomembrane system NA 0 PE1 -NX_Q9NQS3 61002 549 5.79 3 Postsynaptic cell membrane;Cell membrane;Microtubule organizing center NA 1 PE1 -NX_Q9NQS5 43705 396 9.63 12 Cell membrane NA 7 PE1 -NX_Q9NQS7 105429 918 9.46 11 Kinetochore;Centromere;Spindle;Nucleus;Midbody NA 0 PE1 -NX_Q9NQT4 25249 235 7.54 19 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NQT5 29572 275 8.39 9 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Pontocerebellar hypoplasia 1B 0 PE1 -NX_Q9NQT6 56624 498 7.83 7 Cytoskeleton NA 0 PE1 -NX_Q9NQT8 202789 1826 5.64 8 Axon;Cytoskeleton NA 0 PE1 -NX_Q9NQU5 74869 681 9.57 15 Cytoplasm;Nucleolus;Nucleus;Cell junction NA 0 PE1 -NX_Q9NQV5 57863 511 5.85 11 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NQV6 130136 1147 6.27 11 Cytoplasmic vesicle;Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NQV7 103376 894 9.36 5 Nucleus;Chromosome NA 0 PE1 -NX_Q9NQV8 71663 689 8.05 4 Nucleus Epilepsy, progressive myoclonic 10 0 PE1 -NX_Q9NQW1 128697 1179 8.62 10 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Nucleolus;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9NQW5 55777 492 7.99 16 Nucleus speckle;Nucleus;Chromosome NA 0 PE1 -NX_Q9NQW6 124199 1124 8.38 7 Nucleoplasm;Cell cortex;Nucleus;Bleb;Cytoskeleton;Midbody Focal segmental glomerulosclerosis 8 0 PE1 -NX_Q9NQW7 69918 623 5.42 10 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9NQW8 92167 809 8.06 8 Membrane Stargardt disease 1;Achromatopsia 3 6 PE1 -NX_Q9NQX0 64452 595 7.93 5 Nucleoplasm;Nucleus Patent ductus arteriosus 3 0 PE1 -NX_Q9NQX1 73090 630 9.08 4 Nucleolus;Nucleus Brittle cornea syndrome 2 0 PE1 -NX_Q9NQX3 79748 736 5.25 14 Synapse;Cytosol;Cell membrane;Dendrite;Postsynaptic cell membrane;Postsynaptic density;Cytoskeleton Molybdenum cofactor deficiency, complementation group C 0 PE1 -NX_Q9NQX4 202810 1742 7.69 15 Cytosol;Nucleus NA 0 PE1 -NX_Q9NQX5 34516 325 6.55 9 Cytosol;Nucleus;Membrane NA 1 PE1 -NX_Q9NQX6 53739 463 9.16 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NQX7 30224 267 8.16 2 Lysosome membrane;Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q9NQY0 29665 253 6.94 8 Cytoskeleton NA 0 PE1 -NX_Q9NQZ2 54558 479 5.5 4 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NQZ3 82764 744 9.36 Y Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 0 PE1 -NX_Q9NQZ5 43113 370 9.03 2 Mitochondrion NA 0 PE1 -NX_Q9NQZ6 26244 224 6.68 X Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Postsynaptic cell membrane;Nucleus Wieacker-Wolf syndrome 0 PE1 -NX_Q9NQZ7 68960 604 7.29 10 Nucleoplasm;Cytoplasmic vesicle membrane NA 2 PE1 -NX_Q9NQZ8 54498 489 9 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q9NR00 12337 106 10.14 8 Nucleus speckle;Nucleolus;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus NA 0 PE1 -NX_Q9NR09 530255 4857 5.67 2 Endosome;trans-Golgi network membrane;Golgi apparatus;Midbody ring;Spindle pole;Cytoplasmic vesicle;Spindle;Centrosome NA 0 PE1 -NX_Q9NR11 54814 478 9.13 19 Cytoplasmic vesicle;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9NR12 49845 457 8.76 5 Cytoplasm;Cytoskeleton;Focal adhesion NA 0 PE1 -NX_Q9NR16 159239 1453 5.44 12 Nucleoplasm;Cytosol;Centrosome;Cell membrane;Secreted NA 1 PE1 -NX_Q9NR19 78580 701 6.02 20 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q9NR20 59608 520 9.03 12 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NR21 39597 338 6.86 12 Nuclear pore complex NA 0 PE1 -NX_Q9NR22 45291 394 6.47 12 Cell membrane NA 0 PE1 -NX_Q9NR23 41387 364 8.2 12 Cytoplasm;Secreted Microphthalmia, isolated, 7;Microphthalmia, isolated, with coloboma, 6;Klippel-Feil syndrome 3, autosomal dominant 0 PE1 -NX_Q9NR28 27131 239 5.68 12 Mitochondrion Deafness, autosomal dominant, 64 0 PE1 -NX_Q9NR30 87344 783 9.32 10 Nucleoplasm;Cytosol;Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NR31 22367 198 6.22 10 Endoplasmic reticulum;Golgi apparatus NA 0 PE1 -NX_Q9NR33 12209 117 4.87 2 Cytosol;Nucleus NA 0 PE1 -NX_Q9NR34 70911 630 7.01 1 Cytoplasmic vesicle;Nucleus;Golgi apparatus membrane NA 1 PE1 -NX_Q9NR45 40308 359 6.29 9 Nucleoplasm Spondyloepimetaphyseal dysplasia, Genevieve type 0 PE1 -NX_Q9NR46 43974 395 5.72 9 Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_Q9NR48 332790 2969 9.46 1 Nucleoplasm;Tight junction;Nucleus;Golgi apparatus;Chromosome Mental retardation, autosomal dominant 52 0 PE1 -NX_Q9NR50 50240 452 6.08 1 Cytosol;Cytoplasm;Cytoplasmic vesicle Leukodystrophy with vanishing white matter 0 PE1 -NX_Q9NR55 14468 127 9.12 1 Nucleus NA 0 PE1 -NX_Q9NR56 41817 388 9.16 3 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Cytoplasmic granule Dystrophia myotonica 1;Corneal dystrophy, Fuchs endothelial, 3 0 PE1 -NX_Q9NR61 74605 685 6.51 15 Cell membrane Adams-Oliver syndrome 6 1 PE1 -NX_Q9NR63 57513 512 8.68 2 Endoplasmic reticulum membrane;Cytosol;Microsome membrane Radiohumeral fusions with other skeletal and craniofacial anomalies 0 PE1 -NX_Q9NR64 82680 748 5.95 13 Cytoskeleton NA 0 PE2 -NX_Q9NR71 85516 780 6.77 10 Cell membrane NA 1 PE1 -NX_Q9NR77 22253 195 10.58 12 Peroxisome membrane NA 4 PE1 -NX_Q9NR80 79067 690 6.55 2 Cytoplasm;Ruffle membrane NA 0 PE1 -NX_Q9NR81 59783 526 6.03 3 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NR82 102179 932 9.55 6 Cytoplasmic vesicle;Cell membrane Mental retardation, autosomal dominant 46 6 PE1 -NX_Q9NR83 41267 387 8.57 20 Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9NR90 54989 486 8.9 Y Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 0 PE1 -NX_Q9NR96 115860 1032 8.55 3 Endoplasmic reticulum membrane;Endosome;Phagosome;Lysosome NA 1 PE1 -NX_Q9NR97 119828 1041 6.2 X Membrane NA 1 PE1 -NX_Q9NR99 312150 2828 8.57 X Mitochondrion;Secreted Lung cancer 0 PE1 -NX_Q9NRA0 69217 654 6.47 19 Cytoplasmic vesicle;Cytoplasm;Lysosome membrane;Membrane NA 0 PE1 -NX_Q9NRA1 39029 345 5.77 4 Cytosol;Cytoplasmic granule;Nucleus;Cell membrane;Secreted NA 0 PE1 -NX_Q9NRA2 54640 495 8.51 6 Cytosol;Synaptic vesicle membrane;Lysosome membrane;Cell membrane Infantile sialic acid storage disorder;Salla disease 12 PE1 -NX_Q9NRA8 108201 985 8.45 22 Cytoplasmic vesicle;PML body;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9NRB3 48414 414 9.37 7 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q9NRC1 67166 585 6.82 7 Cytosol;Nucleoplasm;Membrane NA 3 PE1 -NX_Q9NRC6 416750 3674 6.21 15 Cytoskeleton NA 0 PE1 -NX_Q9NRC8 44898 400 9.8 17 Cytoplasmic vesicle;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q9NRC9 14332 128 4.87 20 Secreted NA 0 PE1 -NX_Q9NRD0 37068 319 7.62 4 Nucleoplasm;Cytosol NA 0 PE2 -NX_Q9NRD1 33933 293 5.73 1 Cytoplasm NA 0 PE1 -NX_Q9NRD5 46600 415 5.17 22 Synaptosome;Cytosol;Perinuclear region;Membrane;Mitochondrion;Postsynaptic density;Cytoskeleton NA 0 PE1 -NX_Q9NRD8 175364 1548 8.02 15 Apical cell membrane;Cell junction Thyroid dyshormonogenesis 6 7 PE1 -NX_Q9NRD9 177235 1551 8.12 15 Apical cell membrane NA 7 PE1 -NX_Q9NRE1 29708 261 5.96 11 Extracellular matrix NA 0 PE2 -NX_Q9NRE2 115005 1034 8 20 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9NRF2 79366 756 5.26 16 Cytoplasmic vesicle;Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_Q9NRF8 65678 586 6.46 X Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9NRF9 16860 147 4.68 9 Nucleolus;Nucleus NA 0 PE1 -NX_Q9NRG0 14711 131 4.99 8 Nucleus NA 0 PE1 -NX_Q9NRG1 25674 225 5.76 10 Nucleoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q9NRG4 49688 433 6.27 1 Cytosol;Mitochondrion;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9NRG7 34748 319 9.79 14 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9NRG9 59574 546 7.26 12 Cytosol;Nuclear pore complex;Centrosome;Nucleus membrane Achalasia-addisonianism-alacrima syndrome 0 PE1 -NX_Q9NRH1 25299 226 5.35 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NRH2 84276 765 6.62 3 Cytoplasmic vesicle;Nucleus;Cell junction;Cell membrane NA 0 PE1 -NX_Q9NRH3 51092 451 5.5 17 Centrosome;Microtubule organizing center NA 0 PE1 -NX_Q9NRI5 93611 854 5.96 1 Mitochondrion;Cytoplasm;Cytoskeleton;Centrosome;Postsynaptic density Schizophrenia 9 0 PE1 -NX_Q9NRI6 3432 33 3.92 17 Secreted NA 0 PE5 -NX_Q9NRI7 2179 21 7.74 17 NA NA 0 PE5 -NX_Q9NRJ1 11219 99 8.59 8 Endoplasmic reticulum membrane;Microsome membrane;Cytoplasm NA 0 PE1 -NX_Q9NRJ2 17657 163 10.93 9 NA NA 0 PE5 -NX_Q9NRJ3 14280 127 10.23 5 Secreted NA 0 PE1 -NX_Q9NRJ4 169000 1543 7.49 6 Cytoplasm NA 0 PE1 -NX_Q9NRJ5 71681 636 6.02 7 Nucleus NA 0 PE1 -NX_Q9NRJ7 84983 776 5 5 Cytoplasmic vesicle;Cell membrane;Membrane NA 1 PE1 -NX_Q9NRK6 79148 738 9.87 1 Mitochondrion inner membrane NA 5 PE1 -NX_Q9NRL2 178702 1556 6.2 14 Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q9NRL3 80596 753 5.21 19 Cytosol;Cytoplasm;Dendritic spine;Membrane NA 0 PE1 -NX_Q9NRM0 58702 540 9.09 4 Apical cell membrane;Basolateral cell membrane Hypouricemia renal 2 12 PE1 -NX_Q9NRM1 128785 1142 6.36 4 Extracellular matrix Amelogenesis imperfecta 1C;Amelogenesis imperfecta 1B 0 PE1 -NX_Q9NRM2 52788 450 5.19 7 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9NRM6 55885 502 8.44 3 Cell membrane;Secreted NA 1 PE1 -NX_Q9NRM7 120136 1088 8.44 13 Cytosol;Cytoplasm;Microtubule organizing center;Nucleus;Centrosome;Spindle pole NA 0 PE1 -NX_Q9NRN5 46010 406 6.17 1 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q9NRN7 35776 309 6.35 11 Cytoplasm NA 0 PE1 -NX_Q9NRN9 23719 209 6.23 2 Cytosol;Nucleolus NA 0 PE1 -NX_Q9NRP0 16829 149 9.23 4 Nucleoplasm;Endoplasmic reticulum;Membrane NA 3 PE1 -NX_Q9NRP2 9460 79 7.73 16 Mitochondrion NA 0 PE1 -NX_Q9NRP4 14652 125 9.13 7 Mitochondrion;Mitochondrion matrix;Cytoskeleton NA 0 PE1 -NX_Q9NRP7 143995 1315 5.57 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NRQ2 37005 329 5.53 3 Nucleoplasm;Nucleus;Membrane NA 1 PE1 -NX_Q9NRQ5 6738 59 10.28 11 Membrane NA 1 PE1 -NX_Q9NRR1 15577 136 8.81 4 Nucleus membrane;Endoplasmic reticulum;Secreted NA 0 PE1 -NX_Q9NRR2 33815 321 6.69 16 Membrane NA 1 PE2 -NX_Q9NRR3 9223 84 8.61 5 Cytoskeleton;Phagocytic cup;Cell membrane NA 0 PE1 -NX_Q9NRR4 159316 1374 8 5 Nucleolus;Nucleus NA 0 PE1 -NX_Q9NRR5 63853 601 5.14 1 Cytoplasm;Perinuclear region;Nucleus;Autophagosome;Endoplasmic reticulum NA 0 PE1 -NX_Q9NRR6 70205 644 9.16 9 Cytoplasm;Ruffle;Cell membrane;Cilium axoneme;Golgi stack membrane Joubert syndrome 1;Mental retardation, truncal obesity, retinal dystrophy, and micropenis 0 PE1 -NX_Q9NRR8 8925 79 10.03 1 Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9NRS4 48246 437 5.2 11 Nucleoplasm;Cytosol;Membrane NA 1 PE1 -NX_Q9NRS6 38291 342 5.09 11 Cytosol;Cytoplasm;Cytoplasmic vesicle membrane;Nucleolus;Membrane NA 0 PE1 -NX_Q9NRU3 104351 951 5.91 10 Cytosol;Cell membrane NA 4 PE1 -NX_Q9NRV9 21097 189 5.71 12 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NRW1 23462 208 5.41 3 Cytoplasmic vesicle;Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus membrane NA 0 PE1 -NX_Q9NRW3 22826 190 7.52 22 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9NRW4 20910 184 8.28 6 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NRW7 65077 570 8.41 1 Endosome membrane;Cytoskeleton;Golgi apparatus membrane Neutropenia, severe congenital 5, autosomal recessive 0 PE1 -NX_Q9NRX1 27924 252 9.75 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q9NRX2 20050 175 10.12 11 Mitochondrion;Cytoplasmic vesicle;Nucleolus;Golgi apparatus NA 0 PE1 -NX_Q9NRX3 9966 87 9.94 12 NA NA 0 PE1 -NX_Q9NRX4 13833 125 5.65 9 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NRX5 50495 453 5.59 6 Endoplasmic reticulum membrane;Cytosol NA 10 PE1 -NX_Q9NRX6 8294 74 9.67 1 Golgi apparatus membrane NA 1 PE1 -NX_Q9NRY2 11425 104 9.22 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NRY4 170514 1499 6.2 19 Cytoplasm;Nucleus;Cell membrane;Cilium basal body NA 0 PE1 -NX_Q9NRY5 55468 505 4.85 5 Cytoplasmic vesicle NA 0 PE1 -NX_Q9NRY6 31648 295 6.22 17 Mitochondrion;Mitochondrion membrane NA 1 PE1 -NX_Q9NRY7 33504 297 6.69 3 Nucleus;Membrane NA 1 PE1 -NX_Q9NRZ5 44021 378 8.95 6 Cytoplasmic vesicle;Nucleolus;Golgi apparatus;Membrane NA 4 PE1 -NX_Q9NRZ7 43381 376 8.96 21 Endoplasmic reticulum membrane;Nucleus envelope NA 2 PE1 -NX_Q9NRZ9 97074 838 8.07 10 Cytoplasmic vesicle;Nucleus;Golgi apparatus Immunodeficiency-centromeric instability-facial anomalies syndrome 4 0 PE1 -NX_Q9NS00 42203 363 6.17 7 Cytosol;Nucleus;Membrane NA 1 PE1 -NX_Q9NS15 139359 1303 5.71 11 Nucleoplasm;Extracellular matrix;Secreted Dental anomalies and short stature;Geleophysic dysplasia 3 0 PE1 -NX_Q9NS18 18052 164 9.25 1 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NS23 39219 344 9.2 3 Spindle;Cytoskeleton;Nucleus;Centrosome;Spindle pole NA 0 PE1 -NX_Q9NS25 11840 103 5.92 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NS26 11038 97 5.05 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NS28 27582 235 7.73 1 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q9NS37 37134 354 5.12 11 Mitochondrion;Nucleus NA 0 PE1 -NX_Q9NS39 80621 739 10.19 10 Nucleus NA 0 PE1 -NX_Q9NS40 135000 1196 7.57 2 Membrane NA 6 PE1 -NX_Q9NS56 119198 1045 9.56 9 Nucleoplasm;PML body;Nucleus Retinitis pigmentosa 31 0 PE1 -NX_Q9NS61 30907 270 4.97 10 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9NS62 94584 852 8.33 13 Cytosol;Secreted;Membrane NA 1 PE1 -NX_Q9NS64 11774 109 4.79 2 Cytoplasm;Membrane NA 1 PE1 -NX_Q9NS66 41481 373 9.36 X Cytosol;Cell membrane NA 7 PE2 -NX_Q9NS67 39818 375 9.3 3 Nucleoplasm;Cytosol;Cytoskeleton;Cell membrane NA 7 PE2 -NX_Q9NS68 46015 423 5.28 13 Nucleoplasm;Mitochondrion;Membrane NA 1 PE1 -NX_Q9NS69 15522 142 4.27 22 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_Q9NS71 21999 199 5.9 2 Secreted NA 0 PE1 -NX_Q9NS73 39281 344 6.78 14 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NS75 39635 346 9.63 13 Cell membrane NA 7 PE1 -NX_Q9NS82 56798 523 8.51 19 Nucleolus;Nucleus;Membrane NA 9 PE1 -NX_Q9NS84 54266 486 9.72 X Golgi apparatus membrane NA 1 PE1 -NX_Q9NS85 37563 328 8.22 17 Cytoplasmic vesicle NA 0 PE1 -NX_Q9NS86 50854 450 7.18 7 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9NS87 160160 1388 5.75 3 Cytoplasm;Spindle NA 0 PE1 -NX_Q9NS91 56223 495 7.51 3 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q9NS93 64166 570 6.56 12 Cytosol;Nucleus;Cell membrane NA 7 PE1 -NX_Q9NS98 86701 782 7.97 3 Secreted NA 0 PE1 -NX_Q9NSA0 59972 550 8.96 11 Cell membrane NA 12 PE1 -NX_Q9NSA1 22300 209 5.01 19 Secreted NA 0 PE1 -NX_Q9NSA2 71330 647 8.79 X Dendrite;Nucleus;Membrane NA 6 PE1 -NX_Q9NSA3 9170 81 5.33 1 Mitochondrion;Cytoplasm;Nucleus;Cell junction;Cell membrane NA 0 PE1 -NX_Q9NSB2 64842 600 7.74 12 NA NA 0 PE1 -NX_Q9NSB4 56653 513 6.4 12 NA NA 0 PE1 -NX_Q9NSB8 40627 354 6.03 15 Cytoplasm;Synapse;Stereocilium;Postsynaptic density Deafness, autosomal dominant, 68 0 PE1 -NX_Q9NSC2 140405 1324 6.57 16 Cytosol;Nucleus Townes-Brocks syndrome 1 0 PE1 -NX_Q9NSC5 39836 361 5.39 19 Cytosol;Cytoplasm;Synapse;Cell membrane;Postsynaptic density NA 0 PE1 -NX_Q9NSC7 68564 600 9.93 17 Golgi apparatus membrane NA 1 PE1 -NX_Q9NSD4 48443 429 9.33 X Nucleolus;Nucleus NA 0 PE1 -NX_Q9NSD5 68009 602 7.36 12 Cytosol;Mitochondrion;Nucleolus;Nucleus;Cell membrane NA 12 PE1 -NX_Q9NSD7 51124 469 9.07 5 Cell membrane NA 7 PE1 -NX_Q9NSD9 66116 589 6.39 2 Cytosol;Cytoplasm;Nucleus Neurodevelopmental disorder with brain, liver, and lung abnormalities 0 PE1 -NX_Q9NSE2 28663 258 6.52 3 Cytoskeleton NA 0 PE1 -NX_Q9NSE4 113792 1012 6.78 1 Mitochondrion matrix;Mitochondrion Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 0 PE1 -NX_Q9NSG2 96554 853 5.64 1 Mitochondrion NA 0 PE1 -NX_Q9NSI2 25456 230 11.07 21 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q9NSI5 44593 407 8.14 21 Apical cell membrane;Tight junction NA 1 PE2 -NX_Q9NSI6 262936 2320 8.73 21 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NSI8 41708 373 5.28 21 Cytoplasm;Nucleus;Ruffle;Cell membrane NA 0 PE1 -NX_Q9NSJ1 49689 428 8.9 21 Nucleus NA 0 PE5 -NX_Q9NSK0 68640 619 5.82 6 Cytosol;Mitochondrion;Cytoskeleton NA 0 PE1 -NX_Q9NSK7 16286 152 6.83 19 Mitochondrion;Cytosol;Mitochondrion membrane;Endoplasmic reticulum Spastic paraplegia 43, autosomal recessive;Neurodegeneration with brain iron accumulation 4 1 PE1 -NX_Q9NSN8 57969 517 6.24 8 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9NSP4 19737 180 6.7 22 Cytosol;Kinetochore;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9NSQ0 12575 103 9.73 22 NA NA 0 PE5 -NX_Q9NST1 52865 481 6.27 22 Cytosol;Mitochondrion;Lipid droplet;Nucleolus;Membrane Non-alcoholic fatty liver disease 1 1 PE1 -NX_Q9NSU2 33212 314 8.12 3 Cytosol;Endoplasmic reticulum membrane;Nucleus Systemic lupus erythematosus;Vasculopathy, retinal, with cerebral leukodystrophy;Aicardi-Goutieres syndrome 1;Chilblain lupus 1 0 PE1 -NX_Q9NSV4 136926 1193 6.64 13 Cytoplasm;Cytoskeleton;Nucleus;Cell membrane Auditory neuropathy, autosomal dominant, 1 0 PE1 -NX_Q9NSY0 57803 501 6.05 8 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9NSY1 129172 1161 6.05 4 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9NSY2 23794 213 6.22 15 Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_Q9NT22 82647 766 7.84 20 Extracellular matrix NA 0 PE1 -NX_Q9NT62 35864 314 4.66 3 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9NT68 307787 2774 6.23 5 Synaptosome;Synapse;Nucleolus;Dendritic spine;Golgi apparatus;PML body;Endoplasmic reticulum;Postsynaptic cell membrane;Cell membrane;Filopodium;Growth cone NA 1 PE1 -NX_Q9NT99 76434 713 6.8 19 Presynaptic cell membrane;Membrane NA 1 PE1 -NX_Q9NTG1 255449 2253 9.26 22 Membrane NA 11 PE2 -NX_Q9NTG7 43573 399 8.98 11 Mitochondrion matrix NA 0 PE1 -NX_Q9NTI2 133599 1188 8.41 13 Endosome;Photoreceptor outer segment;Golgi apparatus;Nucleoplasm;Cell membrane;Membrane Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 10 PE1 -NX_Q9NTI5 164667 1447 8.67 13 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NTI7 32759 297 8.92 1 Nucleus NA 0 PE1 -NX_Q9NTJ3 147182 1288 6.37 3 Cytosol;Nucleus speckle;Nucleus;Chromosome;Cytoplasm NA 0 PE1 -NX_Q9NTJ4 115835 1040 6.1 15 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9NTJ5 66967 587 6.66 3 Nucleoplasm;Endoplasmic reticulum membrane;Golgi apparatus NA 3 PE1 -NX_Q9NTK1 23406 212 10.68 10 Cytoplasmic vesicle;Mitochondrion;Cytoplasm;Nucleus;Peroxisome NA 0 PE1 -NX_Q9NTK5 44744 396 7.64 2 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NTM9 29341 273 8.47 10 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9NTN3 39240 355 9.06 1 Endoplasmic reticulum membrane;Cytoplasm Schneckenbecken dysplasia 8 PE1 -NX_Q9NTN9 91497 838 8.1 10 Cytoplasmic vesicle;Lipid droplet;Cell membrane NA 1 PE1 -NX_Q9NTQ9 30419 266 8.4 1 Gap junction;Cell junction;Cell membrane Erythrokeratodermia variabilis et progressiva 2 4 PE1 -NX_Q9NTU4 22839 200 5.8 11 Nucleoplasm;Cytoplasm;Flagellum membrane NA 0 PE1 -NX_Q9NTU7 21808 201 8.85 20 Synapse;Midbody ring;Secreted NA 0 PE1 -NX_Q9NTW7 72217 645 8.8 20 Nucleus NA 0 PE1 -NX_Q9NTX5 33698 307 8.32 6 Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q9NTX7 38950 359 5.17 6 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Cell membrane NA 0 PE1 -NX_Q9NTX9 42052 383 9.76 20 Nucleoplasm NA 0 PE1 -NX_Q9NTZ6 97395 932 8.74 20 Nucleoplasm;Nucleus Schizophrenia 19 0 PE1 -NX_Q9NU02 86664 776 8.51 20 Cytosol;Nucleolus;Cell membrane NA 0 PE1 -NX_Q9NU19 59081 505 6.94 6 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9NU22 632820 5596 5.46 6 Nucleolus;Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q9NU23 10449 88 10.46 6 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9NU39 43610 408 9.36 2 Nucleus NA 0 PE2 -NX_Q9NU53 36840 330 4.81 6 Nucleolus;Cell membrane;Membrane NA 1 PE1 -NX_Q9NU63 51919 452 9.34 6 Nucleus Transient neonatal diabetes mellitus 1 0 PE1 -NX_Q9NUA8 138118 1239 6.11 1 Nucleus NA 0 PE1 -NX_Q9NUB1 74857 689 6.66 20 Mitochondrion matrix NA 0 PE1 -NX_Q9NUB4 17394 165 7.8 20 Membrane NA 1 PE2 -NX_Q9NUC0 39348 356 6.27 1 Nucleoplasm NA 0 PE1 -NX_Q9NUD5 43547 403 8.86 20 Cytoplasmic vesicle NA 0 PE1 -NX_Q9NUD7 42859 363 8.81 20 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9NUD9 55713 493 8.2 1 Endoplasmic reticulum membrane;Cytosol;Endoplasmic reticulum Hyperphosphatasia with mental retardation syndrome 1 10 PE1 -NX_Q9NUE0 42031 388 9.33 1 Cytoskeleton;Membrane NA 4 PE1 -NX_Q9NUG4 62179 571 5.62 20 Nucleoplasm NA 0 PE1 -NX_Q9NUG6 15511 133 5.81 20 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q9NUH8 12078 114 9.57 6 Membrane NA 4 PE1 -NX_Q9NUI1 30778 292 9.38 16 Peroxisome NA 0 PE1 -NX_Q9NUJ1 33933 306 8.81 3 Mitochondrion NA 0 PE1 -NX_Q9NUJ3 57035 509 5.41 11 Cytosol NA 0 PE1 -NX_Q9NUJ7 36668 323 6.11 X Cytosol;Cytoplasm NA 0 PE1 -NX_Q9NUK0 38532 354 9.13 X Cytoplasmic vesicle;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9NUL3 62608 570 9.62 8 Nucleolus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NUL5 33110 291 6.86 19 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9NUL7 59581 540 10.43 16 Mitochondrion nucleoid;Nucleolus;Cytosol;Mitochondrion matrix;Nucleus;Mitochondrion NA 0 PE1 -NX_Q9NUM3 32251 307 6.21 14 Endoplasmic reticulum;Membrane NA 8 PE1 -NX_Q9NUM4 31127 274 6.52 7 Lysosome membrane;Late endosome membrane;Endosome;Lysosome;Membrane Ubiquitin-positive frontotemporal dementia;Leukodystrophy, hypomyelinating, 16;Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 1 PE1 -NX_Q9NUN5 61389 540 7.89 6 Lysosome membrane Methylmalonic aciduria and homocystinuria, cblF type 9 PE1 -NX_Q9NUN7 31552 267 8.87 11 Endoplasmic reticulum membrane;Golgi apparatus membrane NA 7 PE1 -NX_Q9NUP1 23351 217 4.9 4 Cytoplasmic vesicle;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9NUP7 54247 481 8.36 1 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q9NUP9 21834 197 8.52 11 Synaptosome;Basolateral cell membrane;Cell membrane;Postsynaptic density;Cell junction;Tight junction NA 0 PE1 -NX_Q9NUQ2 42072 364 9.18 8 Mitochondrion;Endoplasmic reticulum membrane;Nucleus envelope NA 3 PE1 -NX_Q9NUQ3 60586 528 7.23 X Cytosol;Nucleus membrane NA 0 PE1 -NX_Q9NUQ6 61729 558 9.67 2 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NUQ7 53261 469 6.52 4 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum Spondyloepimetaphyseal dysplasia, Di Rocco type;Beukes familial hip dysplasia 0 PE1 -NX_Q9NUQ8 79745 709 5.95 3 Cytosol;Nucleolus NA 0 PE1 -NX_Q9NUQ9 36748 324 5.76 8 Cytosol;Nucleus;Membrane NA 0 PE1 -NX_Q9NUR3 27551 256 6.97 20 Nucleoplasm;Golgi apparatus;Membrane NA 2 PE1 -NX_Q9NUS5 22522 200 6.38 20 Cytosol;Nucleoplasm;Lysosome membrane;Late endosome membrane NA 0 PE1 -NX_Q9NUT2 79989 735 9.21 7 Mitochondrion;Nucleus;Mitochondrion inner membrane NA 5 PE1 -NX_Q9NUU6 42196 356 9.36 5 Cytosol;Nucleolus NA 0 PE1 -NX_Q9NUU7 53975 478 6.2 16 Cytoplasm;Nuclear pore complex;Nucleus membrane NA 0 PE1 -NX_Q9NUV7 62049 552 8.9 20 Endoplasmic reticulum membrane;Cytoskeleton NA 1 PE1 -NX_Q9NUV9 37534 329 7.66 7 Cytosol NA 0 PE1 -NX_Q9NUW8 68420 608 7.34 14 Cytoplasm;Nucleus;Cell membrane Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 0 PE1 -NX_Q9NUX5 71442 634 6.26 7 Nucleus;Telomere Glioma 9;Melanoma, cutaneous malignant 10 0 PE1 -NX_Q9NUY8 78322 699 5.23 3 Cytoplasmic vesicle;Golgi apparatus;trans-Golgi network Pontocerebellar hypoplasia 11 0 PE1 -NX_Q9NUZ1 61795 547 8.78 2 Cytosol;Nucleolus NA 0 PE2 -NX_Q9NV06 51402 445 9.3 8 Cytosol;Nucleolus;Nucleus;Centrosome;Cell junction NA 0 PE1 -NX_Q9NV12 20419 185 7.62 7 Membrane NA 4 PE1 -NX_Q9NV23 29931 265 5.81 10 Cytosol NA 0 PE1 -NX_Q9NV29 14386 134 9.55 17 Perikaryon;Nucleoplasm;Endoplasmic reticulum;Perinuclear region;Cell membrane;Membrane NA 2 PE1 -NX_Q9NV31 21850 184 9.54 15 Nucleolus;Nucleus NA 0 PE1 -NX_Q9NV35 18609 164 5.75 13 Nucleoplasm NA 0 PE1 -NX_Q9NV39 14718 138 12.42 22 NA NA 0 PE1 -NX_Q9NV44 13706 126 7.06 21 NA NA 0 PE5 -NX_Q9NV56 22417 204 5.57 20 Nucleus NA 0 PE1 -NX_Q9NV58 90696 838 6.59 8 Centrosome;Membrane NA 2 PE1 -NX_Q9NV64 55667 488 9.01 3 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 8 PE1 -NX_Q9NV66 83702 732 6.42 7 NA NA 0 PE1 -NX_Q9NV70 101982 894 6.17 4 Cytosol;Cytoplasm;Midbody ring;Cell membrane;Perinuclear region;Cytoskeleton NA 0 PE1 -NX_Q9NV72 60903 531 9.41 19 Nucleoplasm;Nucleus;Microtubule organizing center NA 0 PE1 -NX_Q9NV79 41072 361 5.8 20 Nucleoplasm;Cytoplasm;Mitochondrion NA 0 PE1 -NX_Q9NV88 73814 658 5.9 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NV92 36390 336 4.99 13 Endosome membrane;Cytoplasmic vesicle;Golgi apparatus membrane;Multivesicular body membrane NA 3 PE1 -NX_Q9NV96 40684 361 8.81 6 Apical cell membrane;Golgi apparatus;Cell membrane;Membrane;Mitochondrion;Secretory vesicle membrane NA 2 PE1 -NX_Q9NVA1 34600 299 9.1 20 Cytoplasmic vesicle;Nucleoplasm;Cytoskeleton;Mitochondrion inner membrane;Cell membrane NA 0 PE1 -NX_Q9NVA2 49398 429 6.36 4 Synapse;Cytoplasm;Cell membrane;Axon;Dendritic spine;Cytoskeleton NA 0 PE1 -NX_Q9NVA4 50142 438 5.85 4 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 7 PE1 -NX_Q9NVC3 49966 462 4.98 16 Cytosol;Nucleoplasm;Endosome;Cell membrane;Membrane NA 11 PE1 -NX_Q9NVC6 72890 651 7.05 11 Nucleoplasm;Cytoplasmic vesicle;Nucleus Microcephaly, postnatal progressive, with seizures and brain atrophy 0 PE1 -NX_Q9NVD3 50416 440 8.53 21 Nucleus speckle NA 0 PE1 -NX_Q9NVD7 42244 372 5.69 11 Cytosol;Cytoskeleton;Focal adhesion;Z line;Cell membrane NA 0 PE1 -NX_Q9NVE4 96402 849 8.74 11 NA NA 0 PE1 -NX_Q9NVE5 140130 1235 5.46 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q9NVE7 85991 773 5.88 1 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9NVF7 41149 368 9.59 1 Kinetochore;Focal adhesion;Nucleus NA 0 PE1 -NX_Q9NVF9 44781 386 6.94 1 NA NA 0 PE1 -NX_Q9NVG8 46554 400 5.11 9 Cytoplasm;Nucleolus;Membrane NA 0 PE1 -NX_Q9NVH0 70353 621 8.63 14 Mitochondrion;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9NVH1 63278 559 8.54 1 Mitochondrion;Cytosol;Mitochondrion outer membrane NA 0 PE1 -NX_Q9NVH2 106834 962 8.3 1 Cytoplasm;Nucleus;Centrosome;Chromosome NA 0 PE1 -NX_Q9NVH6 49518 421 7.64 X Mitochondrion;Mitochondrion matrix Autism, X-linked 6 0 PE1 -NX_Q9NVI1 149324 1328 6.31 15 Nucleoplasm;Nucleus Fanconi anemia complementation group I 0 PE1 -NX_Q9NVI7 71369 634 9.08 1 Mitochondrion nucleoid;Mitochondrion inner membrane Harel-Yoon syndrome 1 PE1 -NX_Q9NVJ2 21539 186 8.67 3 Late endosome membrane;Spindle;Lysosome membrane NA 0 PE1 -NX_Q9NVK5 29426 253 5.69 12 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q9NVL1 18454 165 8.51 11 NA NA 0 PE1 -NX_Q9NVL8 34690 296 9.28 14 Cytosol;Nucleus NA 0 PE1 -NX_Q9NVM1 18374 165 4.62 1 Cytosol;Membrane NA 1 PE1 -NX_Q9NVM4 78459 692 5.33 16 Nucleoplasm;Cytosol;Nucleolus;Nucleus Short stature, brachydactyly, intellectual developmental disability, and seizures 0 PE1 -NX_Q9NVM6 34687 304 8.61 15 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NVM9 80225 706 6.24 12 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NVN3 58825 520 5.52 12 Cytosol;Cell cortex;Centrosome NA 0 PE1 -NX_Q9NVN8 65573 582 8.68 X Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NVP1 75407 670 9.52 2 Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_Q9NVP2 22434 202 4.46 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NVP4 82192 752 8.44 20 Nucleolus NA 0 PE1 -NX_Q9NVQ4 20215 179 5.55 3 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9NVR0 80148 708 5.78 17 NA NA 0 PE1 -NX_Q9NVR2 82236 710 7.24 8 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NVR5 91114 837 5.1 14 Cytosol;Cytoplasm Ciliary dyskinesia, primary, 10 0 PE1 -NX_Q9NVR7 63530 557 8.93 3 Spindle pole;Centrosome NA 0 PE1 -NX_Q9NVS2 22184 196 10.35 6 Mitochondrion NA 0 PE1 -NX_Q9NVS9 29988 261 6.61 17 Cytosol;Nucleoplasm Pyridoxine-5'-phosphate oxidase deficiency 0 PE1 -NX_Q9NVT9 31281 282 5.54 8 Mitochondrion NA 0 PE1 -NX_Q9NVU0 79898 708 6.05 16 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NVU7 79871 687 9.29 4 Nucleolus;Nucleus NA 0 PE1 -NX_Q9NVV0 32510 291 9.16 9 Endoplasmic reticulum membrane Osteogenesis imperfecta 14 7 PE1 -NX_Q9NVV2 13750 129 12 19 Cytosol;Nucleus NA 0 PE1 -NX_Q9NVV4 66172 582 9.24 10 Mitochondrion;Cytoplasm Spastic ataxia 4, autosomal recessive 0 PE1 -NX_Q9NVV5 28222 245 8.49 6 Golgi apparatus;Membrane NA 6 PE1 -NX_Q9NVV9 24944 213 8.66 8 Nucleoplasm;PML body;Nucleus Dystonia 6, torsion 0 PE1 -NX_Q9NVW2 68549 624 7.2 X Nucleoplasm;Cytosol;Nucleus Mental retardation, X-linked 61 0 PE1 -NX_Q9NVX0 26933 235 7.74 15 Nucleoplasm;Cytosol;Spindle;Centrosome NA 0 PE1 -NX_Q9NVX2 53320 485 6.92 17 Nucleolus;Nucleus NA 0 PE1 -NX_Q9NVX7 58144 518 5.42 11 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9NVZ3 28339 263 8.49 1 Cytoplasm;Endoplasmic reticulum;Nucleus;Cell membrane;Clathrin-coated vesicle membrane NA 0 PE1 -NX_Q9NW07 59287 568 6.11 19 Nucleus NA 0 PE1 -NX_Q9NW08 127785 1133 8.77 12 Nucleus speckle;Nucleus Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 0 PE1 -NX_Q9NW13 85738 759 9.26 7 Nucleolus Alopecia, neurologic defects, and endocrinopathy syndrome 0 PE1 -NX_Q9NW15 76329 660 7.1 3 Cell membrane Spinocerebellar ataxia, autosomal recessive, 10 8 PE1 -NX_Q9NW38 42905 375 6.02 2 Cytoplasmic vesicle;Cytoplasm;Nucleus Fanconi anemia complementation group L 0 PE1 -NX_Q9NW61 17551 149 7.69 19 Mitochondrion NA 0 PE1 -NX_Q9NW64 46896 420 8.83 5 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NW68 47163 430 4.43 1 Golgi apparatus NA 0 PE1 -NX_Q9NW75 58944 528 9.2 1 Nucleus speckle;Nucleolus NA 0 PE1 -NX_Q9NW81 29267 257 6 19 Mitochondrion NA 0 PE1 -NX_Q9NW82 73201 654 5.94 5 Cytosol;Mitochondrion NA 0 PE1 -NX_Q9NW97 27759 253 5.4 1 Cytosol;Nucleoplasm;Membrane NA 2 PE1 -NX_Q9NWA0 16403 146 6.84 17 Nucleoplasm;Nucleus;Midbody NA 0 PE1 -NX_Q9NWB1 42784 397 6.37 16 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9NWB6 33216 273 10.35 13 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q9NWB7 49108 429 4.93 3 Cytosol;Nucleus speckle;Mitochondrion;Cilium basal body Orofaciodigital syndrome 18 0 PE1 -NX_Q9NWC5 31680 275 7.13 3 Cytoplasmic vesicle;Endoplasmic reticulum;Membrane NA 5 PE1 -NX_Q9NWD8 35052 314 5.91 7 Cytoplasmic vesicle;Membrane NA 4 PE1 -NX_Q9NWD9 14067 120 5.97 X Cytosol;Cytoplasm;Nucleus;Spindle pole NA 0 PE1 -NX_Q9NWF4 46317 448 5.9 17 Cell membrane Riboflavin deficiency 11 PE1 -NX_Q9NWF9 99406 866 4.83 7 Nucleoplasm;Cytosol;Nucleus;Cytoplasm Gordon Holmes syndrome 0 PE1 -NX_Q9NWH2 14758 141 9.17 6 Membrane NA 2 PE1 -NX_Q9NWH7 55989 488 8.8 1 Nucleoplasm;Cytoplasmic vesicle;Flagellum;Golgi apparatus;Secreted NA 0 PE1 -NX_Q9NWH9 117148 1034 7.69 15 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NWK9 53918 470 5.62 1 Cytoplasmic vesicle;Nucleus speckle NA 0 PE1 -NX_Q9NWL6 72080 643 6.4 2 Cytosol NA 0 PE1 -NX_Q9NWM0 61819 555 5.29 20 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleus membrane;Nucleoplasm NA 0 PE1 -NX_Q9NWM3 42258 386 5.48 17 Cytosol;Mitochondrion;Centrosome NA 0 PE1 -NX_Q9NWM8 24172 211 5.7 7 Cytosol;Endoplasmic reticulum lumen;Nucleus;Golgi apparatus Ehlers-Danlos syndrome, kyphoscoliotic type, 2 0 PE1 -NX_Q9NWN3 78711 711 8.32 14 Nucleus speckle NA 0 PE1 -NX_Q9NWQ4 54260 482 8.77 14 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9NWQ8 46981 432 4.57 8 Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_Q9NWQ9 16009 140 4.89 14 Mitochondrion;Cytosol NA 0 PE1 -NX_Q9NWR8 39082 336 9.23 4 Cytosol;Nucleoplasm;Mitochondrion inner membrane NA 2 PE1 -NX_Q9NWS0 32363 290 5.05 19 Cytosol NA 0 PE1 -NX_Q9NWS1 65054 579 8.96 12 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NWS6 40269 357 5.7 22 Cytosol;Cytoskeleton;Membrane NA 1 PE1 -NX_Q9NWS8 51604 449 8.88 6 Mitochondrion Combined oxidative phosphorylation deficiency 11 0 PE1 -NX_Q9NWS9 48957 450 5.72 19 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9NWT1 43964 392 9.07 6 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q9NWT6 40285 349 5.39 10 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus;Cytosol NA 0 PE1 -NX_Q9NWT8 22354 199 10.76 1 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NWU1 48843 459 7.59 3 Mitochondrion;Cytosol NA 0 PE1 -NX_Q9NWU2 26749 228 4.92 20 Nucleoplasm;Cytoplasm;Nucleus;Cell junction NA 0 PE1 -NX_Q9NWU5 23641 206 9.95 5 Mitochondrion NA 0 PE1 -NX_Q9NWV4 18048 160 4.93 1 Cytosol NA 0 PE1 -NX_Q9NWV8 36560 329 4.6 19 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NWW0 15291 138 6.83 16 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NWW5 35919 311 8.94 15 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Endoplasmic reticulum Ceroid lipofuscinosis, neuronal, 6;Ceroid lipofuscinosis, neuronal, 4A 7 PE1 -NX_Q9NWW6 23193 199 4.82 9 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9NWW7 64077 574 9.15 2 Nucleus NA 0 PE1 -NX_Q9NWW9 17394 162 9.3 11 Cytoplasm;Membrane NA 1 PE1 -NX_Q9NWX5 47136 421 5.62 9 Cytoplasm NA 0 PE1 -NX_Q9NWX6 34831 298 8.12 5 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q9NWY4 39436 346 6.34 4 Nucleus NA 0 PE1 -NX_Q9NWZ3 51530 460 5.24 12 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus IRAK4 deficiency;Recurrent isolated invasive pneumococcal disease 1 0 PE1 -NX_Q9NWZ5 61141 548 6.93 20 Cytoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q9NWZ8 28637 242 6.31 X Cytosol;Cytoplasm;Gem;Nucleoplasm NA 0 PE1 -NX_Q9NX00 19658 188 7.84 19 Membrane NA 3 PE1 -NX_Q9NX01 17015 149 5.63 16 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NX02 120515 1062 5.74 19 Cytosol;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q9NX04 23373 203 5.47 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NX05 120588 1096 9.19 X Nucleus speckle NA 0 PE1 -NX_Q9NX07 32499 287 4.61 1 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NX08 21090 183 5.3 4 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NX09 25371 232 4.87 10 Mitochondrion;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9NX14 17317 153 5.17 X Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency;Linear skin defects with multiple congenital anomalies 3 1 PE1 -NX_Q9NX18 19599 166 6.33 11 Cytosol;Mitochondrion matrix;Mitochondrion;Nucleolus Paragangliomas 2 0 PE1 -NX_Q9NX20 28449 251 10.13 11 Mitochondrion NA 0 PE1 -NX_Q9NX24 17201 153 8.48 5 Cytosol;Nucleoplasm;Nucleolus;Cajal body Dyskeratosis congenita, autosomal recessive, 2 0 PE1 -NX_Q9NX31 31779 292 8.74 20 Nucleus speckle;Nucleolus NA 0 PE1 -NX_Q9NX36 45806 388 9.57 21 NA NA 0 PE1 -NX_Q9NX38 20378 181 8.12 9 Nucleus speckle;Cytosol;Nucleoplasm;Dendrite;Nucleus;Lamellipodium;Growth cone NA 0 PE1 -NX_Q9NX40 27626 245 7.02 4 Mitochondrion;Endosome NA 0 PE1 -NX_Q9NX45 46941 425 6.79 13 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NX46 38947 363 4.95 1 Mitochondrion matrix;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NX47 31232 278 9 10 Endoplasmic reticulum membrane;Mitochondrion;Mitochondrion outer membrane NA 4 PE1 -NX_Q9NX52 34021 303 6.61 1 Cell membrane NA 7 PE1 -NX_Q9NX55 14665 129 4.9 15 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9NX57 26277 234 6.12 13 Cytoplasmic vesicle;Phagosome membrane;Phagosome;Golgi apparatus NA 0 PE1 -NX_Q9NX58 43615 379 9.57 4 Cytoplasm;Nucleolus;Nucleus;Photoreceptor outer segment NA 0 PE1 -NX_Q9NX61 53602 479 8.75 19 Cytosol;Membrane NA 8 PE1 -NX_Q9NX62 38681 359 6.38 8 Cytosol;trans-Golgi network membrane;Nucleus;Golgi apparatus Chondrodysplasia with joint dislocations, GPAPP type 1 PE1 -NX_Q9NX63 26152 227 8.48 7 Mitochondrion;Nucleus;Mitochondrion inner membrane;Cytoplasm NA 0 PE1 -NX_Q9NX65 78728 697 8.37 16 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NX70 21073 200 5.86 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NX74 55050 493 6.74 16 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_Q9NX76 20419 183 5.23 3 Early endosome membrane;Recycling endosome membrane;Cell membrane NA 4 PE1 -NX_Q9NX77 55045 482 8.96 16 Virion;Cell membrane NA 1 PE2 -NX_Q9NX78 79536 707 8.67 14 Cytosol;Focal adhesion;Nucleus;Membrane Structural heart defects and renal anomalies syndrome 8 PE1 -NX_Q9NX94 37828 342 5.02 10 Nucleoplasm;Cytoskeleton;Membrane NA 1 PE1 -NX_Q9NX95 72388 663 5.87 8 Cytoplasmic vesicle;Cytoskeleton;Golgi apparatus membrane NA 1 PE1 -NX_Q9NXA8 33881 310 8.82 6 Cytosol;Cytoplasm;Mitochondrion matrix;Nucleus;Mitochondrion intermembrane space;Mitochondrion NA 0 PE1 -NX_Q9NXB0 64528 559 6.04 17 Centrosome;Cilium basal body Bardet-Biedl syndrome 13;Meckel syndrome 1;Joubert syndrome 28 0 PE1 -NX_Q9NXB9 34585 296 9.32 6 Endoplasmic reticulum membrane NA 7 PE1 -NX_Q9NXC2 43158 390 5.63 6 Cytosol;Nucleoplasm;Cell membrane;Secreted NA 0 PE1 -NX_Q9NXC5 98584 875 6.29 7 Nucleoplasm;Cytosol;Lysosome membrane NA 0 PE1 -NX_Q9NXD2 88273 777 8.78 15 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NXE4 97810 866 8.5 2 Endoplasmic reticulum membrane;Cytosol;Golgi apparatus membrane;Nucleus membrane NA 1 PE1 -NX_Q9NXE8 49647 425 10.18 17 Nucleus speckle NA 0 PE1 -NX_Q9NXF1 105674 929 9.43 9 Nucleoplasm;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q9NXF7 24193 216 5.71 4 Cytosol;Cell membrane NA 0 PE1 -NX_Q9NXF8 35140 308 8.28 16 Golgi apparatus membrane;Golgi apparatus NA 4 PE1 -NX_Q9NXG0 161571 1405 8.28 9 Nucleoplasm;Centriole;Cytosol;Centrosome NA 0 PE1 -NX_Q9NXG2 39315 353 8.01 16 Cytosol NA 0 PE1 -NX_Q9NXG6 56661 502 5.68 3 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cytosol NA 1 PE1 -NX_Q9NXH3 16508 145 7.72 15 Cytoplasm NA 0 PE1 -NX_Q9NXH8 46914 423 9.98 9 Nucleoplasm;Membrane NA 1 PE1 -NX_Q9NXH9 72234 659 7.77 19 Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q9NXI6 24145 227 7.02 1 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q9NXJ0 28069 267 6.81 11 Membrane NA 4 PE1 -NX_Q9NXJ5 23138 209 5.54 19 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q9NXK6 38014 330 8.6 15 Cytoplasmic vesicle;Cell membrane NA 7 PE1 -NX_Q9NXK8 37026 326 9.11 19 Mitochondrion NA 0 PE1 -NX_Q9NXL2 89078 777 5.87 4 Nucleoplasm;Centrosome NA 0 PE1 -NX_Q9NXL6 93839 827 6.95 3 Membrane NA 11 PE1 -NX_Q9NXL9 127313 1143 7.87 6 Nucleoplasm;Nucleus;Chromosome Ovarian dysgenesis 4 0 PE1 -NX_Q9NXN4 56225 497 5.48 1 Endoplasmic reticulum NA 0 PE1 -NX_Q9NXP7 59842 522 8.01 5 Nucleolus;Nucleus NA 0 PE1 -NX_Q9NXR1 37721 335 5.09 16 Kinetochore;Spindle;Cytoskeleton;Centrosome;Cleavage furrow Microhydranencephaly;Lissencephaly 4 0 PE1 -NX_Q9NXR5 44768 420 5.58 13 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9NXR7 43552 383 5.53 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NXR8 46743 418 5.88 7 Nucleus Squamous cell carcinoma of the head and neck 0 PE1 -NX_Q9NXS2 42924 382 9.84 19 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q9NXS3 64192 571 5.74 14 Cytosol NA 0 PE1 -NX_Q9NXT0 46413 402 9.14 19 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NXU5 22876 204 5.41 5 Golgi apparatus;Cell junction;Cell membrane NA 0 PE1 -NX_Q9NXV2 26093 234 5.89 16 Cytosol;Nucleus NA 0 PE1 -NX_Q9NXV6 61125 580 9.13 4 Nucleoplasm NA 0 PE1 -NX_Q9NXW2 41860 375 8.81 10 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus membrane NA 1 PE1 -NX_Q9NXW9 33838 302 6.27 7 Cytoplasm;Nucleus;Midbody NA 0 PE1 -NX_Q9NXX6 44301 385 5.25 10 Nucleoplasm;Cytoplasm;Nucleus;Telomere NA 0 PE1 -NX_Q9NXZ1 99225 904 6.02 X Nucleus NA 0 PE1 -NX_Q9NXZ2 72844 648 8.91 6 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NY12 22348 217 10.91 4 Cajal body;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NY15 275482 2570 6.05 3 Cytosol;Nucleoplasm;Cell membrane;Membrane NA 1 PE1 -NX_Q9NY25 21521 188 9.04 7 Cytosol;Cell membrane NA 1 PE1 -NX_Q9NY26 34250 324 5.6 1 Endoplasmic reticulum membrane;Cytosol;Cell membrane NA 8 PE1 -NX_Q9NY27 46898 417 4.48 3 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q9NY28 72851 637 9.02 12 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 -NX_Q9NY30 25970 223 8.86 11 Golgi apparatus;Endoplasmic reticulum NA 0 PE1 -NX_Q9NY33 82589 737 5.01 11 Cytosol;Nucleus speckle;Cell membrane NA 0 PE1 -NX_Q9NY35 28603 253 5.53 3 Cytosol;Nucleolus;Nucleus;Membrane NA 4 PE1 -NX_Q9NY37 57464 505 8.51 4 Cell membrane NA 2 PE1 -NX_Q9NY43 41981 387 8.67 1 Nucleus NA 0 PE1 -NX_Q9NY46 226294 2000 5.6 2 Cell membrane Epileptic encephalopathy, early infantile, 62;Epilepsy, familial focal, with variable foci 4 24 PE1 -NX_Q9NY47 129817 1150 5.54 3 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q9NY56 19318 170 8.37 9 Secreted NA 0 PE1 -NX_Q9NY57 47883 414 7.63 4 Cytoskeleton NA 0 PE1 -NX_Q9NY59 71081 655 5.52 16 Golgi apparatus membrane;Endoplasmic reticulum;Cell membrane NA 0 PE1 -NX_Q9NY61 63133 560 4.83 17 Nucleolus NA 0 PE1 -NX_Q9NY64 50819 477 7.55 9 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Cell membrane NA 12 PE1 -NX_Q9NY65 50094 449 4.94 22 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 8 0 PE1 -NX_Q9NY72 24702 215 4.69 11 Cytosol;Cytoskeleton;Golgi apparatus;Cell membrane;Membrane Brugada syndrome 7;Atrial fibrillation, familial, 16 1 PE1 -NX_Q9NY74 103440 926 7.71 2 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NY84 56118 501 5.66 6 Cell membrane NA 0 PE2 -NX_Q9NY87 10982 97 5.22 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NY91 72456 659 5.8 22 Cell membrane NA 11 PE1 -NX_Q9NY93 61590 547 9.34 7 Nucleolus;Nucleus NA 0 PE1 -NX_Q9NY97 46022 397 8.75 2 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 -NX_Q9NY99 60217 539 7.59 2 Cytoskeleton;Sarcolemma NA 0 PE1 -NX_Q9NYA1 42518 384 6.64 17 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9NYA3 79946 693 5.34 15 NA NA 0 PE2 -NX_Q9NYA4 133353 1195 5.68 17 Cytoplasm;Membrane NA 0 PE1 -NX_Q9NYB0 44260 399 4.64 16 Nucleoplasm;Cytoplasm;Nucleus;Chromosome;Telomere NA 0 PE1 -NX_Q9NYB5 78696 712 8.82 12 Cell membrane NA 12 PE2 -NX_Q9NYB9 55663 513 5.82 2 Nucleoplasm;Cytoplasm;Nucleus;Filopodium;Adherens junction;Lamellipodium;Cytoskeleton NA 0 PE1 -NX_Q9NYC9 511877 4486 5.64 17 Cilium axoneme NA 0 PE1 -NX_Q9NYD6 38073 342 8.45 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NYF0 90174 836 8.93 14 Nucleoplasm;Cytoplasm;Synapse;Nucleus Neural tube defects;Townes-Brocks syndrome 2 0 PE1 -NX_Q9NYF3 43091 392 9 5 NA NA 0 PE1 -NX_Q9NYF5 104543 915 4.87 5 Nucleoplasm NA 0 PE1 -NX_Q9NYF8 106122 920 9.99 6 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9NYG2 34170 299 8.54 3 Golgi apparatus membrane;Golgi apparatus NA 4 PE1 -NX_Q9NYG5 9841 84 7.99 17 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NYG8 42704 393 8.91 11 Cell membrane NA 4 PE1 -NX_Q9NYH9 70194 597 6.92 17 Nucleolus NA 0 PE1 -NX_Q9NYI0 116034 1048 5.68 8 Cytoplasmic vesicle;Postsynaptic density;Nucleus;Cell membrane;Ruffle membrane NA 0 PE1 -NX_Q9NYJ1 10134 87 5.65 11 Mitochondrion;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NYJ7 64618 618 7.86 19 Nucleoplasm;Cytosol;Membrane Spondylocostal dysostosis 1, autosomal recessive 1 PE1 -NX_Q9NYJ8 76494 693 8.8 6 Cytosol;Membrane Congenital heart defects, multiple types, 2 0 PE1 -NX_Q9NYK1 120922 1049 8.51 X Endoplasmic reticulum membrane;Endosome;Phagosome;Lysosome NA 1 PE1 -NX_Q9NYK5 38712 338 7.56 21 Mitochondrion NA 0 PE1 -NX_Q9NYK6 33948 297 6.1 21 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q9NYL2 91155 800 7.9 2 Cytosol;Cytoplasm;Nucleus Myopathy, centronuclear, 6, with fiber-type disproportion;Split-foot malformation with mesoaxial polydactyly 0 PE1 -NX_Q9NYL4 22180 201 9.44 12 Centrosome;Membrane NA 1 PE1 -NX_Q9NYL5 54116 469 8.85 6 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_Q9NYL9 39595 352 5.08 15 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9NYM4 48339 423 9.32 11 Cell membrane NA 7 PE2 -NX_Q9NYM9 12388 111 7.87 11 trans-Golgi network membrane;Nucleus;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q9NYN1 29662 266 9.16 15 NA NA 0 PE1 -NX_Q9NYP3 62747 566 8.84 21 Cytosol;Nucleoplasm;Nucleus;Cell junction Microcephaly, short stature, and limb abnormalities;Microcephaly-micromelia syndrome 0 PE1 -NX_Q9NYP7 35293 299 9.49 6 Endoplasmic reticulum membrane;Dendrite;Endoplasmic reticulum Spinocerebellar ataxia 38 7 PE1 -NX_Q9NYP8 24886 219 8.31 21 NA NA 0 PE2 -NX_Q9NYP9 25863 233 5.14 21 Cytosol;Centromere;Nucleus;Chromosome NA 0 PE1 -NX_Q9NYQ3 38839 351 7.57 1 Peroxisome NA 0 PE1 -NX_Q9NYQ6 329486 3014 5.59 22 Cell membrane Neural tube defects 7 PE1 -NX_Q9NYQ7 358185 3312 6.23 3 Cell membrane NA 7 PE1 -NX_Q9NYQ8 479317 4349 5 5 Cell junction;Cell membrane;trans-Golgi network Spinocerebellar ataxia 45 1 PE1 -NX_Q9NYR8 33755 311 8.74 19 Membrane NA 3 PE1 -NX_Q9NYR9 21508 191 8.22 17 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NYS0 21643 192 5.99 3 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q9NYS7 45286 404 8.36 12 NA NA 0 PE1 -NX_Q9NYT0 39971 353 9.45 14 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Lamellipodium membrane NA 0 PE1 -NX_Q9NYT6 91921 803 9.01 19 Nucleus NA 0 PE1 -NX_Q9NYU1 174735 1516 6.43 13 Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum lumen NA 0 PE1 -NX_Q9NYU2 177190 1555 5.42 2 Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum lumen NA 0 PE1 -NX_Q9NYV4 164155 1490 9.46 17 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9NYV6 74107 651 5.4 16 Nucleolus NA 0 PE1 -NX_Q9NYV7 33986 291 9.5 7 Cell membrane NA 7 PE1 -NX_Q9NYV8 36160 317 10.12 12 Membrane NA 7 PE1 -NX_Q9NYV9 35118 303 9.68 12 Membrane NA 7 PE1 -NX_Q9NYW0 35365 307 9.55 12 Membrane NA 7 PE1 -NX_Q9NYW1 35611 312 9.83 12 Membrane NA 7 PE1 -NX_Q9NYW2 35877 309 9.66 12 Membrane NA 7 PE1 -NX_Q9NYW3 36550 318 9.69 12 Membrane NA 7 PE1 -NX_Q9NYW4 34505 299 9.86 7 Membrane NA 7 PE1 -NX_Q9NYW5 33841 299 9.85 7 Cilium membrane;Membrane NA 7 PE1 -NX_Q9NYW6 35915 316 9.72 7 Membrane NA 7 PE2 -NX_Q9NYW7 34333 299 9.87 5 Membrane NA 7 PE1 -NX_Q9NYW8 82995 714 7.02 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NYX4 23434 217 6.43 10 Cytoplasmic vesicle membrane;Cell membrane NA 1 PE1 -NX_Q9NYY1 20072 176 8.92 1 Secreted NA 0 PE1 -NX_Q9NYY3 78237 685 8.52 5 Mitochondrion;Nucleoplasm;Centriole;Cytosol;Dendrite NA 0 PE1 -NX_Q9NYY8 81463 710 8.31 2 Mitochondrion nucleoid;Mitochondrion NA 0 PE1 -NX_Q9NYZ1 23576 205 8.62 17 Membrane NA 4 PE1 -NX_Q9NYZ2 37323 338 9.33 8 Cytoplasm;Mitochondrion inner membrane;Cell membrane NA 6 PE1 -NX_Q9NYZ3 76645 720 9.45 22 Cytoskeleton;Centrosome;Cell membrane NA 0 PE1 -NX_Q9NYZ4 54042 499 8.39 19 Cytosol;Membrane NA 1 PE1 -NX_Q9NZ01 36034 308 9.5 19 Endoplasmic reticulum membrane;Endoplasmic reticulum Mental retardation, autosomal recessive 14 3 PE1 -NX_Q9NZ08 107235 941 6.02 5 Endoplasmic reticulum membrane;Nucleoplasm;Cytosol;Cell membrane NA 1 PE1 -NX_Q9NZ09 55084 502 5.02 9 Cytosol;Cytoplasm;Endosome;Cell membrane NA 0 PE1 -NX_Q9NZ20 57167 509 9.35 22 Centriole;Cell membrane;Secreted NA 0 PE1 -NX_Q9NZ32 46307 417 7.06 14 Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q9NZ38 21312 188 10.21 10 NA NA 0 PE2 -NX_Q9NZ42 12029 101 9.25 19 Endoplasmic reticulum membrane;Golgi stack membrane;Cell membrane;Membrane Acne inversa, familial, 2, with or without Dowling-Degos disease 1 PE1 -NX_Q9NZ43 29371 259 9.13 19 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q9NZ45 12199 108 9.2 10 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA 1 PE1 -NX_Q9NZ52 78315 723 5.41 17 Endosome membrane;Recycling endosome membrane;Early endosome membrane;trans-Golgi network membrane;Golgi apparatus NA 0 PE1 -NX_Q9NZ53 65076 605 4.27 3 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 1 PE1 -NX_Q9NZ56 180106 1722 5.32 1 Nucleolus;Cytosol;Cell cortex;Cell membrane;Perinuclear region;Nucleus;Cytoskeleton;Cytoplasmic vesicle membrane Mental retardation, autosomal recessive 47 0 PE1 -NX_Q9NZ63 33688 289 6.33 9 Nucleoplasm NA 0 PE1 -NX_Q9NZ71 133683 1219 8.6 20 Nucleus speckle;Nucleus Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 3;Dyskeratosis congenita, autosomal dominant, 4 0 PE1 -NX_Q9NZ72 21017 180 6.99 20 Axon;Growth cone;Golgi apparatus NA 0 PE1 -NX_Q9NZ81 15385 148 9.75 12 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9NZ94 93895 848 5.94 X Cell membrane;Synapse;Cell junction;Golgi apparatus Asperger syndrome, X-linked, 1;Autism, X-linked 1 1 PE1 -NX_Q9NZA1 46503 410 4.71 6 Nucleus speckle;Golgi apparatus;Cell cortex;Cell membrane;Membrane;Cytoskeleton;Centrosome Deafness, autosomal recessive, 103 1 PE1 -NX_Q9NZB2 121888 1118 9.07 9 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9NZB8 70105 636 9.4 6 Cytosol;Cell membrane Molybdenum cofactor deficiency, complementation group A 0 PE1 -NX_Q9NZC2 25447 230 5.84 6 Cell membrane;Secreted Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 PE1 -NX_Q9NZC3 37718 331 6.22 16 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Nucleolus;Nucleus;Cell membrane NA 2 PE1 -NX_Q9NZC4 34892 300 6.83 11 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9NZC7 46677 414 6.71 16 Mitochondrion;Cytoplasm;Nucleus;Cytosol;Golgi apparatus Spinocerebellar ataxia, autosomal recessive, 12;Esophageal cancer;Epileptic encephalopathy, early infantile, 28 0 PE1 -NX_Q9NZC9 105938 954 9.15 2 Nucleoplasm;Nucleus Schimke immuno-osseous dysplasia 0 PE1 -NX_Q9NZD1 38791 345 4.87 12 Cell membrane NA 7 PE1 -NX_Q9NZD2 23850 209 6.91 12 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9NZD4 11840 102 4.9 16 Cytoplasm NA 0 PE1 -NX_Q9NZD8 34960 308 5.85 15 Endosome membrane;Cytosol;Cytoplasmic vesicle;trans-Golgi network membrane;Membrane Spastic paraplegia 21, autosomal recessive 0 PE1 -NX_Q9NZE8 21514 188 11.29 2 Mitochondrion NA 0 PE1 -NX_Q9NZF1 12507 115 7.87 4 Cytosol NA 0 PE1 -NX_Q9NZG7 15680 142 9.52 12 Membrane NA 2 PE1 -NX_Q9NZH0 44795 403 8.56 16 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Nucleolus;Nucleus;Cell membrane NA 7 PE1 -NX_Q9NZH4 22064 202 5.54 8 Cytoplasm;Nucleus NA 0 PE5 -NX_Q9NZH5 22302 202 5.98 4 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NZH6 24126 218 6.09 2 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Secreted NA 0 PE1 -NX_Q9NZH7 18522 164 9.6 2 Secreted NA 0 PE1 -NX_Q9NZH8 18721 169 5.06 2 Secreted NA 0 PE1 -NX_Q9NZI2 26817 227 5.1 5 Dendrite;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q9NZI5 70113 618 6.26 2 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9NZI6 54627 479 6.53 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q9NZI7 60491 540 5.92 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NZI8 63481 577 9.26 17 Filopodium;Cytosol;Cytoplasm;Axon;Dendrite;Perinuclear region;Nucleus;Dendritic spine;Lamellipodium;Growth cone NA 0 PE1 -NX_Q9NZJ0 79468 730 9.11 1 Cytosol;Nucleus;Chromosome;Nucleus membrane;Centrosome NA 0 PE1 -NX_Q9NZJ4 521126 4579 6.63 13 Cytoplasm Spastic ataxia Charlevoix-Saguenay type 0 PE1 -NX_Q9NZJ5 125216 1116 5.27 2 Endoplasmic reticulum membrane Wolcott-Rallison syndrome 1 PE1 -NX_Q9NZJ6 41054 369 7.1 6 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_Q9NZJ7 41544 389 9.4 6 Mitochondrion inner membrane NA 2 PE1 -NX_Q9NZJ9 20306 180 5.99 12 Cytoplasm NA 0 PE1 -NX_Q9NZK5 58934 511 7.75 22 Secreted Sneddon syndrome;Polyarteritis nodosa 0 PE1 -NX_Q9NZK7 15989 142 8.61 1 Secreted NA 0 PE1 -NX_Q9NZL3 82280 707 9.01 19 Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9NZL4 39303 359 5.13 19 Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q9NZL6 86701 768 5.78 1 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q9NZL9 37552 334 6.9 5 Nucleus NA 0 PE1 -NX_Q9NZM1 234709 2061 5.84 10 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Nucleus membrane;Cell membrane NA 1 PE1 -NX_Q9NZM3 193461 1697 8.32 2 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9NZM4 158490 1560 6.17 19 Nucleoplasm NA 0 PE1 -NX_Q9NZM5 54389 478 10.32 19 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q9NZM6 73790 624 9 5 Cytosol;Cell membrane;Membrane NA 6 PE1 -NX_Q9NZN1 79969 696 5.87 X Axon;Cytoplasm;Cell membrane;Dendrite Mental retardation, X-linked 21 1 PE1 -NX_Q9NZN3 60887 535 6.12 2 Cilium membrane;Recycling endosome membrane;Cell membrane NA 0 PE1 -NX_Q9NZN4 61161 543 6.03 19 Caveola;Endosome membrane;Cytosol;Cell membrane NA 0 PE1 -NX_Q9NZN5 173232 1544 5.49 11 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane;Membrane NA 0 PE1 -NX_Q9NZN8 59738 540 7.23 12 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NZN9 43903 384 5.63 17 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Leber congenital amaurosis 4 0 PE1 -NX_Q9NZP0 35531 311 8.75 12 Cell membrane NA 7 PE3 -NX_Q9NZP2 35178 312 8.96 12 Cell membrane NA 7 PE3 -NX_Q9NZP5 35304 309 9.13 3 Cell membrane NA 7 PE3 -NX_Q9NZP6 120954 1156 8.94 15 Nucleoplasm;Nucleus inner membrane NA 0 PE1 -NX_Q9NZP8 53498 487 6.75 12 Cytosol;Cytoskeleton;Secreted NA 0 PE1 -NX_Q9NZQ0 30855 273 8.71 2 Cytosol;Nucleus NA 0 PE1 -NX_Q9NZQ3 78960 722 5.94 3 Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q9NZQ7 33275 290 6.76 9 Cytosol;Early endosome membrane;Recycling endosome membrane;Cell membrane;Endomembrane system NA 1 PE1 -NX_Q9NZQ8 131451 1165 6.32 11 Cell membrane NA 6 PE2 -NX_Q9NZQ9 39335 345 4.69 1 Cytoskeleton NA 0 PE1 -NX_Q9NZR1 39595 351 5.21 15 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NZR2 515498 4599 5.09 2 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q9NZR4 38431 365 8.99 20 Nucleus Keratoconus 1;Craniofacial anomalies and anterior segment dysgenesis syndrome 0 PE1 -NX_Q9NZS2 26666 232 8.84 12 Membrane NA 1 PE1 -NX_Q9NZS9 52738 450 6.11 16 Endoplasmic reticulum membrane NA 4 PE1 -NX_Q9NZT1 15893 146 4.34 10 Cytosol;Cell membrane NA 0 PE1 -NX_Q9NZT2 73325 677 4.77 20 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NZU0 73004 649 7.55 20 Endoplasmic reticulum membrane;Secreted;Cytosol;Cell membrane;Axon;Focal adhesion;Cell junction Hypogonadotropic hypogonadism 21 with or without anosmia 1 PE1 -NX_Q9NZU1 71358 646 5.95 11 Endoplasmic reticulum membrane;Secreted;Focal adhesion;Cell membrane;Perinuclear region;Cytoplasmic vesicle membrane;Cell projection;Cell junction NA 1 PE1 -NX_Q9NZU5 40833 365 8.27 3 Cytosol;Cytoplasm;Nucleus;Cell junction;Cell membrane NA 0 PE1 -NX_Q9NZU7 39838 370 8.65 12 Golgi apparatus;Cell cortex;Cell membrane;Perinuclear region;Postsynaptic density;Cytoskeleton NA 0 PE1 -NX_Q9NZV1 113738 1036 5.08 2 Cell membrane;Secreted NA 1 PE1 -NX_Q9NZV5 65813 590 5.32 1 Endoplasmic reticulum membrane;Cytosol Rigid spine muscular dystrophy 1;Myopathy, congenital, with fiber-type disproportion 0 PE1 -NX_Q9NZV6 12760 116 8.64 16 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9NZV7 61164 527 6.3 19 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9NZV8 70537 630 8.24 7 Synapse;Perikaryon;Cell membrane;Dendrite;Postsynaptic cell membrane;Dendritic spine;Cell junction NA 6 PE1 -NX_Q9NZW4 131151 1301 3.58 4 Extracellular matrix Dentin dysplasia 2;Dentinogenesis imperfecta, Shields type 3;Dentinogenesis imperfecta, Shields type 2;Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 0 PE1 -NX_Q9NZW5 61117 540 5.82 7 Membrane NA 0 PE1 -NX_Q9NZY2 14626 134 6.88 14 NA NA 0 PE5 -NX_Q9NZZ3 24571 219 4.68 9 Cytosol;Endosome membrane;Cytoskeleton;Midbody NA 0 PE1 -NX_Q9P000 21819 198 5.6 11 Cytosol;Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9P003 16093 139 6.16 1 Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum;Membrane NA 3 PE1 -NX_Q9P013 26624 229 5.55 11 Mitochondrion;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9P015 33420 296 10.02 8 Mitochondrion NA 0 PE1 -NX_Q9P016 25697 225 9.3 11 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q9P021 11216 101 9.57 2 Cytoplasm;Synapse;Nucleolus;Nucleus;Dendritic spine Short stature with microcephaly and distinctive facies 0 PE1 -NX_Q9P031 28670 241 9.89 12 Nucleolus;Nucleus NA 0 PE1 -NX_Q9P032 20266 175 8.85 6 Mitochondrion;Membrane Mitochondrial complex I deficiency 0 PE1 -NX_Q9P035 43160 362 9.04 15 Endoplasmic reticulum membrane;Nucleus membrane;Cytosol;Cytoplasm;Endoplasmic reticulum;Cell membrane;Mitochondrion NA 6 PE1 -NX_Q9P055 36169 319 8.18 14 Nucleoplasm;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Endoplasmic reticulum NA 7 PE1 -NX_Q9P086 13129 117 5.71 17 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9P0B6 11459 97 9.52 6 Cytosol;Membrane NA 1 PE1 -NX_Q9P0G3 29122 267 9.47 19 Extracellular space NA 0 PE1 -NX_Q9P0I2 29952 261 6.33 3 Cytosol;Cytoskeleton;Membrane NA 2 PE1 -NX_Q9P0J0 16698 144 8.02 19 Mitochondrion;Mitochondrion inner membrane;Nucleus Hurthle cell thyroid carcinoma 1 PE1 -NX_Q9P0J1 61054 537 6.2 8 Mitochondrion matrix;Nucleoplasm;Mitochondrion;Cytosol Pyruvate dehydrogenase phosphatase deficiency 0 PE1 -NX_Q9P0J6 11784 103 11.27 5 Mitochondrion;Nucleus NA 0 PE1 -NX_Q9P0J7 41945 381 5.41 2 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9P0K1 100433 906 6.91 7 Axon;Cell junction;Cell membrane Epileptic encephalopathy, early infantile, 61 1 PE1 -NX_Q9P0K7 110041 980 5.87 5 Stress fiber;Cytosol;Cell cortex;Nucleus;Cytoskeleton;Cell junction NA 0 PE1 -NX_Q9P0K8 62395 574 6.2 12 Nucleolus;Nucleus NA 0 PE1 -NX_Q9P0K9 37270 344 7.55 9 Synapse;Cell membrane Epileptic encephalopathy, early infantile, 37 1 PE1 -NX_Q9P0L0 27893 249 8.8 18 Endoplasmic reticulum membrane;Tight junction;Cell membrane;Endoplasmic reticulum;Nucleus membrane NA 1 PE1 -NX_Q9P0L1 85033 754 7.26 3 Nucleus NA 0 PE1 -NX_Q9P0L2 89003 795 9.42 1 Cytoplasm;Cytoskeleton;Cell membrane;Dendrite NA 0 PE1 -NX_Q9P0L9 91982 805 5.34 10 Cytoplasmic vesicle;Cilium membrane;Cell membrane NA 6 PE1 -NX_Q9P0M2 39518 348 5.85 6 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9P0M4 21765 197 8.44 16 Secreted NA 0 PE1 -NX_Q9P0M6 40058 372 9.71 10 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q9P0M9 16073 148 10.42 17 Mitochondrion NA 0 PE1 -NX_Q9P0N5 16487 145 9.39 11 Membrane;Cilium basal body Joubert syndrome 2;Meckel syndrome 2 4 PE1 -NX_Q9P0N8 26995 246 7.46 19 Endosome membrane;Endoplasmic reticulum membrane;Lysosome membrane;Cytosol NA 2 PE1 -NX_Q9P0N9 33972 293 8.08 6 Cytoplasmic vesicle Macrocephaly/megalencephaly syndrome, autosomal recessive 0 PE1 -NX_Q9P0P0 17909 153 4.93 2 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9P0P8 27941 240 9.31 6 NA NA 0 PE1 -NX_Q9P0R6 15648 139 4.36 14 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9P0S2 12293 106 9.49 14 Mitochondrion;Cytoplasm;Mitochondrion inner membrane;Cell membrane NA 1 PE1 -NX_Q9P0S3 17371 153 9.64 2 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 2 PE1 -NX_Q9P0S9 11565 112 9.87 6 Mitochondrion membrane NA 4 PE1 -NX_Q9P0T4 22010 197 9.16 19 Nucleus NA 0 PE1 -NX_Q9P0T7 20574 183 6.21 1 Late endosome membrane;Lysosome membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q9P0U1 6248 55 10.28 7 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA 1 PE1 -NX_Q9P0U3 73481 644 8.69 12 Cytoplasm;Focal adhesion;Nucleus NA 0 PE1 -NX_Q9P0U4 75712 656 8.61 18 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9P0V3 107496 963 7.77 2 Clathrin-coated vesicle;Nucleus;Clathrin-coated pit NA 0 PE1 -NX_Q9P0V8 31670 285 5.8 1 Membrane NA 1 PE1 -NX_Q9P0V9 52593 454 6.35 2 Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9P0W0 25218 207 8.66 9 Secreted NA 0 PE1 -NX_Q9P0W2 35813 317 9.38 19 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q9P0W8 67719 599 5.9 14 Cytosol;Nucleoplasm;Cilium axoneme;Mitochondrion;Cytoskeleton;Cilium basal body Retinitis pigmentosa autosomal recessive;Leber congenital amaurosis 3 0 PE1 -NX_Q9P0X4 245103 2223 6.09 22 Membrane NA 24 PE1 -NX_Q9P0Z9 44066 390 8.67 17 Peroxisome NA 0 PE1 -NX_Q9P104 35464 306 9.02 20 Focal adhesion NA 0 PE1 -NX_Q9P107 106683 970 5.5 19 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q9P109 53052 453 8.48 5 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q9P121 37971 344 7.98 11 Cell membrane NA 0 PE1 -NX_Q9P126 26596 229 8.79 12 Membrane NA 1 PE1 -NX_Q9P127 35937 313 9.47 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q9P1A2 45908 415 4.62 20 NA NA 0 PE5 -NX_Q9P1A6 117620 1054 6.42 8 Postsynaptic density;Synapse;Cell membrane NA 0 PE1 -NX_Q9P1C3 5407 46 10.93 14 Secreted NA 0 PE5 -NX_Q9P1D8 6607 64 11.3 16 NA NA 0 PE5 -NX_Q9P1F3 9056 81 5.86 6 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9P1G2 11378 102 8.77 8 NA NA 0 PE5 -NX_Q9P1J3 7343 65 6.54 14 NA NA 0 PE5 -NX_Q9P1P4 39065 343 8.7 6 Cell membrane NA 7 PE5 -NX_Q9P1P5 40134 351 8.91 6 Cell membrane NA 7 PE2 -NX_Q9P1Q0 110589 977 6.1 2 Nucleoplasm;trans-Golgi network;Golgi apparatus NA 0 PE1 -NX_Q9P1Q5 34565 309 8.96 17 Cell membrane NA 7 PE2 -NX_Q9P1T7 25788 246 5.09 7 Nucleoplasm;Cytoplasm;Nucleolus;Golgi apparatus NA 0 PE1 -NX_Q9P1U0 13904 126 4.9 6 Nucleolus NA 0 PE1 -NX_Q9P1U1 47608 418 5.61 7 Cytoskeleton;Cell projection NA 0 PE1 -NX_Q9P1V8 77151 674 4.43 14 Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9P1W3 93317 806 6.59 14 Centrosome;Membrane NA 10 PE1 -NX_Q9P1W8 42498 387 6.71 20 Membrane NA 1 PE1 -NX_Q9P1W9 34190 311 5.58 X Cytosol NA 0 PE1 -NX_Q9P1Y5 134750 1249 8.61 19 Nucleoplasm;Cytoplasm;Cytoskeleton;Centrosome;Adherens junction NA 0 PE1 -NX_Q9P1Y6 178666 1649 9.15 11 NA NA 0 PE1 -NX_Q9P1Z0 105114 1013 8.65 17 Nucleoplasm;Cytosol;Nucleus;Chromosome NA 0 PE1 -NX_Q9P1Z2 77336 691 4.77 12 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9P1Z3 86032 774 9.75 1 Cell membrane NA 6 PE1 -NX_Q9P1Z9 197344 1701 5.75 9 NA NA 0 PE1 -NX_Q9P202 96558 907 8.74 9 Photoreceptor inner segment;Cytoplasm;Synapse;Stereocilium;Growth cone Deafness, autosomal recessive, 31;Usher syndrome 2D 0 PE1 -NX_Q9P203 126368 1132 6.51 14 Focal adhesion;Nucleus NA 0 PE1 -NX_Q9P206 107095 1035 9.75 1 Nucleoplasm;Cell junction;Cell membrane NA 0 PE1 -NX_Q9P209 71718 647 6.08 5 Centriolar satellite;Centrosome NA 0 PE1 -NX_Q9P212 258715 2302 6.07 10 Cytosol;Golgi apparatus membrane;Cell membrane Nephrotic syndrome 3 0 PE1 -NX_Q9P215 69444 609 5.06 1 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9P217 130634 1185 6.78 1 Nucleus speckle NA 0 PE2 -NX_Q9P218 135830 1284 8.27 20 Extracellular space NA 0 PE1 -NX_Q9P219 228230 2028 5.87 14 Cytoplasm;Nucleolus;Nucleus Spinocerebellar ataxia 40;Hydrocephalus, congenital, 1 0 PE1 -NX_Q9P225 507698 4427 5.98 17 Cytoskeleton;Cilium axoneme NA 0 PE1 -NX_Q9P227 162192 1491 9.31 17 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q9P232 112883 1028 5.94 3 Cell membrane NA 0 PE1 -NX_Q9P241 160274 1426 6.78 4 Endoplasmic reticulum membrane;Nucleoplasm;Cell membrane NA 10 PE1 -NX_Q9P242 70548 653 8.71 2 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q9P243 139034 1243 6.9 8 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9P244 82318 771 6.62 19 Postsynaptic density;Synapse;Membrane NA 1 PE1 -NX_Q9P246 83971 746 6.3 4 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9P253 110186 973 5.72 15 Lysosome membrane;Late endosome membrane;Clathrin-coated vesicle;Autophagosome;Early endosome NA 0 PE1 -NX_Q9P255 61158 531 9.4 19 Nucleus NA 0 PE2 -NX_Q9P258 56085 522 9.02 1 Nucleolus;Cell membrane;Spindle;Nucleus;Cytoskeleton;Centromere;Midbody;Chromosome NA 0 PE1 -NX_Q9P260 134630 1216 5.28 18 Nucleoplasm;Cytosol;Recycling endosome;trans-Golgi network;Microtubule organizing center NA 0 PE1 -NX_Q9P265 171492 1576 8.43 12 Endoplasmic reticulum NA 0 PE1 -NX_Q9P266 148351 1359 6.65 10 Cytoplasmic vesicle;Adherens junction;Cell junction NA 0 PE1 -NX_Q9P267 159895 1494 9.17 2 Nucleus;Midbody;Chromosome Mental retardation, autosomal dominant 1 0 PE1 -NX_Q9P270 62543 581 9.48 4 Cytosol;Cytoskeleton;Centrosome NA 0 PE1 -NX_Q9P272 51299 454 6.2 8 Cytosol;Nucleus NA 0 PE2 -NX_Q9P273 300950 2699 5.99 4 Nucleoplasm;Axon;Cell membrane Microphthalmia, isolated, with coloboma, 9 1 PE1 -NX_Q9P275 122908 1123 9.73 17 Nucleus speckle;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q9P278 122115 1114 6.2 4 Cytoplasm NA 0 PE1 -NX_Q9P281 280016 2639 9.01 17 Nucleolus NA 0 PE1 -NX_Q9P283 125913 1151 7.99 3 Cytosol;Membrane NA 1 PE1 -NX_Q9P286 80745 719 8.19 20 Mitochondrion;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9P287 35979 314 4.51 10 Cytosol;Spindle pole;Centriole;Nucleoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q9P289 46529 416 5.16 X Cytosol;Cytoplasm;Nucleus;Centrosome;Golgi apparatus NA 0 PE1 -NX_Q9P291 49180 453 9.32 X Mitochondrion;Cytosol;Nucleus;Mitochondrion outer membrane NA 1 PE1 -NX_Q9P296 36080 337 8.17 19 Cell membrane NA 7 PE1 -NX_Q9P298 11058 99 9.55 17 Membrane NA 2 PE1 -NX_Q9P299 23548 210 5.08 17 COPI-coated vesicle membrane;Cytoplasm;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 0 PE1 -NX_Q9P2A4 39035 366 4.99 17 Cytoplasm NA 0 PE1 -NX_Q9P2B2 98556 879 6.16 1 Endoplasmic reticulum membrane;trans-Golgi network membrane NA 1 PE1 -NX_Q9P2B4 70158 639 8.22 1 Cytosol;Cytoskeleton;Nucleolus;Stress fiber NA 0 PE1 -NX_Q9P2B7 59475 532 9.12 4 Cytosol;Nucleolus;Cell membrane NA 0 PE1 -NX_Q9P2C4 69325 612 9.1 6 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 9 PE1 -NX_Q9P2D0 150528 1353 7.79 6 Nucleoplasm;Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_Q9P2D1 335927 2997 5.95 8 Nucleoplasm;Nucleolus;Nucleus Hypogonadotropic hypogonadism 5 with or without anosmia;Idiopathic scoliosis 3;CHARGE syndrome 0 PE1 -NX_Q9P2D3 224302 2071 6.77 2 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q9P2D6 169840 1515 5.22 6 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9P2D7 487478 4265 5.59 3 Flagellum;Cilium axoneme Ciliary dyskinesia, primary, 37;Spermatogenic failure 18 0 PE1 -NX_Q9P2D8 295326 2635 5.9 14 Nucleus;Cell membrane;Membrane NA 2 PE1 -NX_Q9P2E2 115068 1029 5.38 1 Nucleoplasm;Cytoskeleton;Cilium;Cell membrane NA 0 PE1 -NX_Q9P2E3 220227 1918 7.06 20 Mitochondrion NA 0 PE1 -NX_Q9P2E5 85948 772 7.94 7 Cytosol;Golgi stack membrane;Nucleoplasm NA 1 PE1 -NX_Q9P2E7 112936 1040 4.74 4 Cytoplasmic vesicle;Nucleus;Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q9P2E8 45528 410 8.18 2 Golgi apparatus membrane NA 2 PE2 -NX_Q9P2E9 152456 1410 8.69 20 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q9P2F5 102671 926 8.67 4 Nucleoplasm;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9P2F6 132608 1191 8.26 11 Mitochondrion NA 0 PE1 -NX_Q9P2F8 190438 1722 6.31 1 Nucleus;Nucleus membrane;Golgi apparatus NA 0 PE1 -NX_Q9P2F9 65547 582 8.75 16 Nucleus NA 0 PE1 -NX_Q9P2G1 122002 1089 4.98 7 Cytosol;Cell membrane NA 0 PE1 -NX_Q9P2G3 70714 628 6.21 18 Cytosol;Endoplasmic reticulum membrane;Cytoskeleton NA 0 PE1 -NX_Q9P2G4 100345 905 6.77 1 Cleavage furrow;Midbody;Nucleus;Centrosome;Cytoskeleton;Spindle pole NA 0 PE1 -NX_Q9P2G9 68802 620 6.12 4 Nucleoplasm NA 0 PE1 -NX_Q9P2H0 125870 1117 8.95 11 Cytosol;Midbody;Nucleoplasm;Centrosome;Cilium basal body NA 0 PE1 -NX_Q9P2H3 88035 777 7.59 3 Cytoplasm;Cilium axoneme;Cilium basal body Short-rib thoracic dysplasia 2 with or without polydactyly 0 PE1 -NX_Q9P2H5 113405 1018 5.42 11 Nucleolus;Nucleus NA 0 PE1 -NX_Q9P2I0 88487 782 4.98 14 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9P2J2 126580 1179 6.74 1 Synapse;Cell membrane NA 1 PE1 -NX_Q9P2J3 69429 617 5.92 9 NA NA 0 PE1 -NX_Q9P2J5 134466 1176 6.95 5 Cytosol;Cytoplasm;Nucleus Infantile liver failure syndrome 1 0 PE1 -NX_Q9P2J8 99929 865 9.13 17 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9P2J9 59978 529 5.69 16 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q9P2K1 186185 1620 6.3 4 Cytoplasm;Cilium basal body COACH syndrome;Joubert syndrome 9;Meckel syndrome 6 0 PE1 -NX_Q9P2K2 93572 825 5.1 14 Mitochondrion;Endoplasmic reticulum lumen;Secreted NA 0 PE1 -NX_Q9P2K3 55581 495 8.26 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q9P2K5 64122 600 8.86 15 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9P2K6 56868 505 5.52 12 Cytoplasm;Spindle NA 0 PE1 -NX_Q9P2K8 186911 1649 5.88 15 Cytosol;Cytoplasm Pulmonary venoocclusive disease 2, autosomal recessive 0 PE1 -NX_Q9P2K9 153048 1392 7.5 1 Endoplasmic reticulum membrane;Nucleus membrane;Cytosol;Nucleoplasm;Membrane;Cytoplasmic vesicle membrane NA 12 PE1 -NX_Q9P2L0 133547 1181 5.98 2 Centrosome;Cilium axoneme;Cilium basal body Cranioectodermal dysplasia 2;Short-rib thoracic dysplasia 7/20 with polydactyly, digenic;Short-rib thoracic dysplasia 7 with or without polydactyly 0 PE1 -NX_Q9P2M1 39780 347 7.99 4 Cytoplasm NA 0 PE1 -NX_Q9P2M4 78137 693 6.57 4 Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus;cis-Golgi network;trans-Golgi network NA 0 PE1 -NX_Q9P2M7 136386 1197 5.46 1 Cell membrane;Cell junction;Tight junction NA 0 PE1 -NX_Q9P2N2 82060 729 7.62 18 Cell junction NA 0 PE1 -NX_Q9P2N4 216491 1935 8.13 3 Cytoplasmic vesicle;Endoplasmic reticulum;Extracellular matrix NA 0 PE1 -NX_Q9P2N5 118718 1060 9.24 5 Cytoplasm;Nucleus speckle NA 0 PE1 -NX_Q9P2N6 95992 904 9.46 2 Nucleus NA 0 PE1 -NX_Q9P2N7 73868 655 6.17 X NA NA 0 PE1 -NX_Q9P2P1 208366 1898 8.27 14 Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus;Membrane NA 2 PE1 -NX_Q9P2P5 175769 1572 5.26 2 Cytoplasm;Spindle;Nucleolus;Endoplasmic reticulum Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 PE1 -NX_Q9P2P6 516343 4700 5.91 15 Centriole;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9P2Q2 115458 1039 8.98 10 Adherens junction;Cytoskeleton;Nucleus;Tight junction;Golgi apparatus Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia 0 PE1 -NX_Q9P2R3 128399 1169 5.7 17 Endosome membrane;Cytoplasm;Endosome;Early endosome NA 0 PE1 -NX_Q9P2R6 172424 1566 7.44 1 Nucleus Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 PE1 -NX_Q9P2R7 50317 463 7.05 13 Mitochondrion Mitochondrial DNA depletion syndrome 5 0 PE1 -NX_Q9P2S2 184982 1712 5.61 11 Membrane NA 1 PE1 -NX_Q9P2S5 51588 460 6.37 1 Nucleoplasm;Cytoplasm;Centrosome;Centriole;Centriolar satellite;Cell junction NA 0 PE1 -NX_Q9P2S6 105516 941 6.28 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9P2T0 43444 379 9.17 19 Nucleus NA 0 PE1 -NX_Q9P2T1 37874 348 6.8 14 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q9P2U7 61613 560 7.2 19 Synaptosome;Synaptic vesicle membrane;Membrane NA 12 PE1 -NX_Q9P2U8 64392 582 6.62 11 Synaptosome;Synaptic vesicle membrane;Membrane NA 12 PE1 -NX_Q9P2V4 68041 623 8.9 10 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9P2W1 24906 217 7.62 17 Nucleoplasm;Nucleus Ovarian dysgenesis 3 0 PE1 -NX_Q9P2W3 7949 67 5.05 16 Cell membrane NA 0 PE1 -NX_Q9P2W6 14447 132 9.55 11 Cytoplasm NA 0 PE2 -NX_Q9P2W7 38256 334 9.64 11 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus membrane;Secreted NA 1 PE1 -NX_Q9P2W9 38674 335 5.36 4 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane NA 1 PE1 -NX_Q9P2X0 10094 92 5.66 1 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1O 2 PE1 -NX_Q9P2X3 36476 320 4.86 18 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9P2X7 7542 70 7.93 9 NA NA 0 PE2 -NX_Q9P2X8 7854 69 7.77 9 NA NA 0 PE5 -NX_Q9P2Y4 76877 722 9.56 14 Nucleus NA 0 PE1 -NX_Q9P2Y5 78151 699 8.56 11 Late endosome;Lysosome;Endoplasmic reticulum;Early endosome;Centromere;Midbody NA 0 PE1 -NX_Q9P2Z0 28351 257 8.95 15 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9QC07 91948 812 9.21 1 NA NA 0 PE3 -NX_Q9TNN7 40912 366 7.11 6 Membrane NA 1 PE1 -NX_Q9TQE0 29826 266 7.67 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 -NX_Q9UBA6 8344 75 5.78 6 NA NA 0 PE2 -NX_Q9UBB4 53489 475 5.12 22 Cytosol;Cytoplasm;Perinuclear region;Cell membrane Spinocerebellar ataxia 10 0 PE1 -NX_Q9UBB5 43255 411 10.06 18 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UBB6 78864 729 5.34 1 Cytosol;Dendrite NA 0 PE1 -NX_Q9UBB9 96820 837 5.45 22 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9UBC0 51023 465 9.71 15 Nucleus NA 0 PE1 -NX_Q9UBC1 43204 381 6.86 6 Nucleus Rheumatoid arthritis 0 PE1 -NX_Q9UBC2 94255 864 4.93 19 Cytoplasmic vesicle;Coated pit;Nucleus;Cell membrane NA 0 PE1 -NX_Q9UBC3 95751 853 8.74 20 Nucleoplasm;Cytoplasmic vesicle;Nucleus Immunodeficiency-centromeric instability-facial anomalies syndrome 1;Facioscapulohumeral muscular dystrophy 2 0 PE1 -NX_Q9UBC5 118401 1043 9.37 12 NA NA 0 PE1 -NX_Q9UBC7 12545 116 5.86 19 Secreted NA 0 PE2 -NX_Q9UBC9 18154 169 8.86 1 Cytoplasm NA 0 PE1 -NX_Q9UBD0 46742 423 6.63 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UBD3 12567 114 10.62 1 Secreted NA 0 PE1 -NX_Q9UBD5 82254 711 7.54 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UBD6 53179 479 5.93 15 Apical cell membrane NA 12 PE1 -NX_Q9UBD9 25176 225 8.68 11 Cytoplasmic vesicle;Nucleus;Secreted Crisponi/Cold-induced sweating syndrome 2 0 PE1 -NX_Q9UBE0 38450 346 5.17 19 Nucleus NA 0 PE1 -NX_Q9UBE8 58283 527 8.35 17 Cytoplasm;Nucleolus;Nucleus;Cell junction NA 0 PE1 -NX_Q9UBF1 41163 373 4.26 X Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UBF2 97622 871 5.56 7 Cytosol;COPI-coated vesicle membrane;Golgi apparatus membrane NA 0 PE1 -NX_Q9UBF6 12683 113 5.24 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UBF8 91379 816 5.86 1 Golgi apparatus;Endomembrane system;Perinuclear region;Rough endoplasmic reticulum membrane;Golgi apparatus membrane;Mitochondrion outer membrane NA 0 PE1 -NX_Q9UBF9 55395 498 9.18 5 Cytoskeleton;Sarcolemma;Z line Spheroid body myopathy;Myopathy, myofibrillar, 3;Limb-girdle muscular dystrophy 1A 0 PE1 -NX_Q9UBG0 166674 1479 5.54 17 Membrane NA 1 PE1 -NX_Q9UBG3 53533 495 5.73 1 Cytoplasm NA 0 PE1 -NX_Q9UBG7 56751 517 7.86 20 Nucleus NA 0 PE2 -NX_Q9UBH0 16962 155 5.12 2 Secreted Psoriasis 14, pustular 0 PE1 -NX_Q9UBH6 81535 696 8.68 1 Cell membrane Basal ganglia calcification, idiopathic, 6 8 PE1 -NX_Q9UBI1 22151 195 5.62 10 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UBI4 42968 398 8.18 15 Cytosol;Cell membrane;Cytoplasmic vesicle;Late endosome membrane;Membrane;Membrane raft NA 1 PE1 -NX_Q9UBI6 8006 72 9.14 1 Mitochondrion;Cell membrane NA 0 PE1 -NX_Q9UBI9 58837 543 8.89 6 NA NA 0 PE1 -NX_Q9UBJ2 83233 740 9.04 12 Peroxisome membrane NA 4 PE1 -NX_Q9UBK2 91027 798 5.71 4 Nucleoplasm;Cytoplasm;Nucleus;PML body NA 0 PE1 -NX_Q9UBK5 9489 93 8.63 19 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Membrane NA 1 PE1 -NX_Q9UBK7 26115 228 4.75 2 NA NA 0 PE1 -NX_Q9UBK8 80410 725 6.05 5 Cytosol;Nucleoplasm;Cytoskeleton;Cytoplasm Homocystinuria-megaloblastic anemia, cblE complementation type;Neural tube defects, folate-sensitive 0 PE1 -NX_Q9UBK9 18246 157 7.02 X Cytosol;Cytoplasm;Spindle pole;Microtubule organizing center;Nucleus;Centrosome NA 0 PE1 -NX_Q9UBL0 89196 812 6.51 3 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q9UBL3 68723 628 5.45 8 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9UBL6 70294 633 5.97 16 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9UBL9 51754 471 8.4 12 Cell membrane Deafness, autosomal dominant, 41 2 PE1 -NX_Q9UBM1 22134 199 8.89 17 Endoplasmic reticulum membrane;Cytosol;Mitochondrion membrane NA 3 PE1 -NX_Q9UBM4 37261 332 5.39 1 Extracellular matrix NA 0 PE1 -NX_Q9UBM7 54489 475 8.95 11 Endoplasmic reticulum membrane;Cytosol;Endoplasmic reticulum Smith-Lemli-Opitz syndrome 7 PE1 -NX_Q9UBM8 56061 478 8.28 12 Golgi apparatus membrane NA 1 PE2 -NX_Q9UBN1 36579 327 9.23 17 Cytosol;Cell membrane NA 4 PE1 -NX_Q9UBN4 112101 977 7.81 13 Cell membrane;Membrane NA 6 PE1 -NX_Q9UBN6 41823 386 6.19 8 Cytoskeleton;Cell membrane;Membrane NA 1 PE1 -NX_Q9UBN7 131419 1215 5.14 X Perikaryon;Nucleoplasm;Cytoplasm;Axon;Dendrite;Nucleus Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 0 PE1 -NX_Q9UBP0 67197 616 9.67 2 Endoplasmic reticulum membrane;Nucleoplasm;Endosome;Nucleus membrane;Cytosol;Cytoplasm;Lipid droplet;Endoplasmic reticulum;Centrosome;Spindle;Perinuclear region;Nucleus;Membrane;Cytoskeleton;Midbody Spastic paraplegia 4, autosomal dominant 0 PE1 -NX_Q9UBP4 38390 350 4.59 11 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q9UBP5 35808 337 8.31 6 Nucleus NA 0 PE1 -NX_Q9UBP6 31471 276 7.19 12 Nucleus NA 0 PE1 -NX_Q9UBP8 8969 84 9.51 6 NA NA 0 PE2 -NX_Q9UBP9 34490 304 8.04 2 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q9UBQ0 20506 182 6.29 12 Cytoplasmic vesicle;Endosome;Late endosome;Lysosome;Cytosol;Cytoplasm;Membrane;Endosome membrane;Early endosome NA 0 PE1 -NX_Q9UBQ5 25060 218 4.81 19 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UBQ6 37466 330 9.08 1 Endoplasmic reticulum membrane;Cytosol;Nucleus;Secreted NA 1 PE1 -NX_Q9UBQ7 35668 328 7.01 9 Cytosol;Nucleoplasm Hyperoxaluria primary 2 0 PE1 -NX_Q9UBR1 43166 384 6.09 22 Cytoplasm Beta-ureidopropionase deficiency 0 PE1 -NX_Q9UBR2 33868 303 6.7 20 Cytoplasmic vesicle;Endoplasmic reticulum;Lysosome NA 0 PE1 -NX_Q9UBR4 43358 397 8.47 9 Nucleus Pituitary hormone deficiency, combined, 3 0 PE1 -NX_Q9UBR5 17170 152 9.41 16 Cytoplasmic vesicle;Membrane;Secreted NA 3 PE1 -NX_Q9UBS0 53455 482 6.91 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UBS3 25518 223 8.37 7 Cytosol;Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 -NX_Q9UBS4 40514 358 5.81 3 Endoplasmic reticulum lumen;Endoplasmic reticulum Polycystic kidney disease 6 with or without polycystic liver disease 0 PE1 -NX_Q9UBS5 108320 961 8.49 6 Dendrite;Postsynaptic cell membrane;Centrosome;Cell membrane;Secreted NA 7 PE1 -NX_Q9UBS8 53837 474 4.66 5 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UBS9 139430 1254 4.93 1 Cytosol;Nucleolus;Rough endoplasmic reticulum membrane NA 1 PE1 -NX_Q9UBT2 71224 640 5.15 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UBT3 24876 224 8.81 8 Secreted NA 0 PE1 -NX_Q9UBT6 98809 870 8.42 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UBT7 81896 734 6.22 9 Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9UBU2 28447 259 9.34 4 Golgi apparatus;Secreted NA 0 PE1 -NX_Q9UBU3 12911 117 5.35 3 Secreted NA 0 PE1 -NX_Q9UBU6 44123 413 6.76 6 Golgi apparatus;Membrane NA 3 PE1 -NX_Q9UBU7 76858 674 8.03 7 Nucleus NA 0 PE1 -NX_Q9UBU8 41474 362 9.29 15 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9UBU9 70182 619 8.74 11 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9UBV2 88755 794 5.23 14 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9UBV4 40690 365 8.97 7 Extracellular matrix NA 0 PE1 -NX_Q9UBV7 37406 327 9.18 5 Golgi stack membrane Ehlers-Danlos syndrome, spondylodysplastic type, 1 1 PE1 -NX_Q9UBV8 30381 284 6.1 1 COPII-coated vesicle membrane;Cytosol;Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleoplasm;Membrane NA 0 PE1 -NX_Q9UBW5 61874 565 5.11 12 Cytoplasm;Podosome membrane;Phagocytic cup;Cell cortex NA 0 PE1 -NX_Q9UBW7 154911 1377 5.95 13 Nucleoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q9UBW8 30277 275 8.33 12 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UBX0 21409 185 9.01 3 Nucleus Septooptic dysplasia;Pituitary hormone deficiency, combined, 5;Growth hormone deficiency with pituitary anomalies 0 PE1 -NX_Q9UBX1 53366 484 8.52 11 Cytoplasmic vesicle;Cytosol;Cell membrane;Lysosome Ceroid lipofuscinosis, neuronal, 13 0 PE1 -NX_Q9UBX2 44940 424 8.72 4 Nucleus Facioscapulohumeral muscular dystrophy 1 0 PE1 -NX_Q9UBX3 31282 287 9.62 17 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA 6 PE1 -NX_Q9UBX5 50180 448 4.58 14 Secreted;Cell membrane;Extracellular matrix Macular degeneration, age-related, 3;Neuropathy, hereditary, with or without age-related macular degeneration;Cutis laxa, autosomal recessive, 1A;Cutis laxa, autosomal dominant, 2 0 PE1 -NX_Q9UBX7 31059 282 9.23 19 Golgi apparatus;Secreted NA 0 PE1 -NX_Q9UBX8 44914 382 8.59 18 Golgi stack membrane NA 1 PE1 -NX_Q9UBY0 91520 812 9.2 2 Cell junction;Membrane NA 10 PE1 -NX_Q9UBY5 40128 353 9.53 1 Cell membrane NA 7 PE1 -NX_Q9UBY8 32787 286 8.47 8 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum Ceroid lipofuscinosis, neuronal, 8;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 5 PE1 -NX_Q9UBY9 18611 170 6.04 1 Nucleoplasm;Cytoplasm;Nucleus;Cajal body NA 0 PE1 -NX_Q9UBZ4 57401 518 8.65 X Cytoplasmic vesicle;Mitochondrion;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9UBZ9 138248 1251 8.76 2 Cytosol;Nucleus NA 0 PE1 -NX_Q9UC06 50802 446 8.68 22 Cytosol;Nucleus NA 0 PE1 -NX_Q9UC07 65761 566 9.13 19 Nucleus NA 0 PE1 -NX_Q9UD57 32381 310 9.7 10 Nucleus NA 0 PE1 -NX_Q9UD71 22963 204 4.48 17 Cytoplasm NA 0 PE1 -NX_Q9UDR5 102132 926 6.18 7 Cytoplasmic vesicle;Mitochondrion Hyperlysinemia, 1;2,4-dienoyl-CoA reductase deficiency 0 PE1 -NX_Q9UDT6 115837 1046 6.29 7 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q9UDV6 55447 495 6.97 7 Nucleus NA 0 PE1 -NX_Q9UDV7 74295 671 5.62 7 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UDW1 7308 63 9.45 22 Mitochondrion inner membrane NA 0 PE1 -NX_Q9UDW3 19971 170 8.85 22 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UDX3 46644 406 6.16 22 Centrosome NA 0 PE1 -NX_Q9UDX4 46048 400 5.79 22 NA NA 0 PE1 -NX_Q9UDX5 18010 166 9.33 22 Mitochondrion;Mitochondrion inner membrane NA 3 PE1 -NX_Q9UDY2 133958 1190 6.96 9 Nucleoplasm;Cell membrane;Cytosol;Nucleus;Adherens junction;Cell junction;Tight junction Cholestasis, progressive familial intrahepatic, 4;Familial hypercholanemia 0 PE1 -NX_Q9UDY4 37807 337 8.65 1 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9UDY6 55037 481 5.69 6 Cytoplasm NA 0 PE1 -NX_Q9UDY8 92272 824 5.47 18 Cytosol;Perinuclear region;Nucleolus;Nucleus Immunodeficiency 12 0 PE1 -NX_Q9UEE5 46558 414 5.08 7 Nucleus speckle;Nucleus;Cell membrane NA 0 PE1 -NX_Q9UEE9 33593 299 4.77 16 Cytoplasmic vesicle;Kinetochore;Nucleoplasm NA 0 PE1 -NX_Q9UEF7 116181 1012 8.06 13 Apical cell membrane;Cell membrane;Secreted Tumoral calcinosis, hyperphosphatemic, familial, 3 1 PE1 -NX_Q9UEG4 96620 869 8.24 16 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9UER7 81373 740 4.8 6 PML body;Nucleolus;Nucleoplasm;Cytoplasm;Nucleus;Centromere NA 0 PE1 -NX_Q9UET6 36079 329 5.42 X Cytosol;Cytoplasm Mental retardation, X-linked 44 0 PE1 -NX_Q9UEU0 26688 232 9.02 14 Lysosome membrane;Golgi apparatus;Early endosome membrane;Cytoplasmic vesicle;Cytoplasmic granule;Late endosome membrane;Recycling endosome membrane NA 1 PE1 -NX_Q9UEU5 12764 116 4.23 X NA NA 0 PE1 -NX_Q9UEW3 52658 520 8.95 2 Cytoplasmic vesicle;Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q9UEW8 59474 545 5.92 2 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UEY8 79155 706 5.92 10 Cytoskeleton;Cell membrane Cerebral palsy, spastic quadriplegic 3 0 PE1 -NX_Q9UF02 30903 275 6.94 17 Postsynaptic density;Membrane NA 4 PE2 -NX_Q9UF11 27186 243 7 11 Cytoplasm;Membrane NA 0 PE1 -NX_Q9UF12 58871 536 8.94 19 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9UF33 116379 1036 6.55 3 Nucleoplasm;Membrane NA 1 PE1 -NX_Q9UF47 22496 199 5.16 8 Cytoplasmic vesicle;Membrane NA 0 PE1 -NX_Q9UF56 75695 701 8.49 5 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UF83 59412 564 13.06 13 NA NA 0 PE1 -NX_Q9UFB7 82760 747 5.52 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UFC0 70861 647 6.88 7 Kinetochore;Nucleolus;Telomere;Cytoplasmic vesicle;Nucleus;Centromere;Centrosome NA 0 PE1 -NX_Q9UFD9 180717 1639 6.46 22 Cytoskeleton NA 0 PE1 -NX_Q9UFE4 109901 941 6.1 3 Mitochondrion;Cilium axoneme Ciliary dyskinesia, primary, 14 0 PE1 -NX_Q9UFF9 33540 292 4.69 5 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UFG5 12878 118 5.03 19 Cytoskeleton NA 0 PE1 -NX_Q9UFH2 509313 4462 5.52 17 Nucleoplasm;Cilium axoneme;Cell membrane NA 0 PE1 -NX_Q9UFN0 28467 247 9.21 9 Cytosol NA 0 PE1 -NX_Q9UFP1 63637 575 7.1 3 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q9UFV1 16280 150 9.33 17 NA NA 0 PE2 -NX_Q9UFV3 14889 132 10.08 15 NA NA 0 PE5 -NX_Q9UFW8 18820 167 9.14 3 Nucleus NA 0 PE1 -NX_Q9UG01 197576 1749 5.78 2 Cytoplasmic vesicle;Cilium Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71 0 PE1 -NX_Q9UG22 38017 337 8.6 7 Cytoplasm;Lipid droplet;Membrane NA 2 PE1 -NX_Q9UG56 46672 409 9.51 22 Cytosol;Mitochondrion inner membrane;Golgi apparatus NA 1 PE1 -NX_Q9UG63 71290 623 6.95 7 Cytosol NA 0 PE1 -NX_Q9UGB4 5874 50 4.33 20 NA NA 0 PE4 -NX_Q9UGB7 33010 285 5.5 22 Cytoplasm NA 0 PE1 -NX_Q9UGC6 24359 210 5.56 6 Cytoplasmic vesicle;Synaptosome;Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_Q9UGC7 43600 380 8.36 6 Mitochondrion NA 0 PE1 -NX_Q9UGF5 35892 321 8.9 6 Cell membrane NA 7 PE2 -NX_Q9UGF6 36057 321 8.79 6 Cell membrane NA 7 PE2 -NX_Q9UGF7 35791 316 8.86 6 Cell membrane NA 7 PE2 -NX_Q9UGH3 70337 650 7.83 20 Cytoplasmic vesicle;Golgi apparatus;Cell membrane NA 12 PE1 -NX_Q9UGI0 80967 708 5.48 10 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9UGI6 81385 731 9.12 1 Nucleoplasm;Membrane NA 6 PE1 -NX_Q9UGI8 47996 421 7.96 7 Cytosol;Cytoplasm;Focal adhesion;Cell junction;Cell membrane NA 0 PE1 -NX_Q9UGI9 54258 489 5.59 2 NA NA 0 PE1 -NX_Q9UGJ0 63066 569 9.37 7 Nucleoplasm Wolff-Parkinson-White syndrome;Glycogen storage disease of heart lethal congenital;Cardiomyopathy, familial hypertrophic 6 0 PE1 -NX_Q9UGJ1 76089 667 6.17 15 Centrosome Microcephaly and chorioretinopathy, autosomal recessive, 3 0 PE1 -NX_Q9UGK3 44894 403 8.34 19 Cytoplasm NA 0 PE1 -NX_Q9UGK8 48981 458 6.01 11 Nucleoplasm;Cytosol;Cytoplasmic vesicle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9UGL1 175658 1544 6.29 1 Nucleus NA 0 PE1 -NX_Q9UGL9 9736 99 9.13 1 NA NA 0 PE1 -NX_Q9UGM1 54807 479 6.04 4 Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_Q9UGM3 260735 2413 5.18 10 Secreted;Microtubule organizing center Glioma 0 PE1 -NX_Q9UGM5 42055 382 6.46 3 Secreted NA 0 PE1 -NX_Q9UGM6 40147 360 9.31 1 Mitochondrion;Mitochondrion matrix;Cell membrane Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 0 PE1 -NX_Q9UGN4 33201 299 5.35 17 Cell membrane NA 1 PE1 -NX_Q9UGN5 66206 583 9.02 14 Nucleolus;Nucleus NA 0 PE1 -NX_Q9UGP4 72190 676 6.2 3 Cytoplasm;Focal adhesion;P-body;Nucleus;Adherens junction NA 0 PE1 -NX_Q9UGP5 63482 575 7.96 10 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9UGP8 87997 760 5.21 6 Endoplasmic reticulum membrane;Endoplasmic reticulum Polycystic liver disease 2 with or without kidney cysts 3 PE1 -NX_Q9UGQ2 18470 172 5.37 9 Nucleoplasm;Membrane NA 3 PE1 -NX_Q9UGQ3 54539 507 8.9 9 Cell membrane NA 12 PE1 -NX_Q9UGR2 109858 977 6.94 22 Cytosol;Nucleus NA 0 PE1 -NX_Q9UGT4 90208 822 5.84 22 Cell membrane NA 1 PE1 -NX_Q9UGU0 211771 1960 9.16 22 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UGU5 65712 601 9.35 22 Nucleus NA 0 PE1 -NX_Q9UGV2 41409 375 5.12 20 NA NA 0 PE1 -NX_Q9UGY1 24663 213 10.22 22 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UH03 40704 358 6.74 22 Nucleoplasm;Cytoplasm;Cytoskeleton;Synapse;Cell membrane NA 0 PE1 -NX_Q9UH17 45924 382 5.74 22 Nucleus NA 0 PE1 -NX_Q9UH36 38573 339 5.31 22 Cytosol NA 0 PE1 -NX_Q9UH62 42501 379 8.6 X Golgi apparatus;Cytosol;Cytoplasm;Mitochondrion outer membrane;Nucleoplasm;Nucleus NA 1 PE1 -NX_Q9UH64 8851 79 11.58 9 NA NA 0 PE4 -NX_Q9UH65 68998 585 5.66 11 Lamellipodium;Cytoskeleton;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q9UH73 64464 591 9 5 Nucleus NA 0 PE1 -NX_Q9UH77 64970 587 5.29 5 Cytosol;Cytoskeleton Pseudohypoaldosteronism 2D 0 PE1 -NX_Q9UH90 79782 709 6.69 3 Cytoplasm NA 0 PE1 -NX_Q9UH92 33300 298 8.18 17 Cytosol;Cytoplasm;Nucleus;Nucleus membrane;Nucleoplasm NA 0 PE1 -NX_Q9UH99 80311 717 6.27 22 Endosome membrane;Nucleus inner membrane;Nucleus envelope;Nucleus membrane NA 1 PE1 -NX_Q9UHA2 8835 77 5.62 3 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UHA3 19621 163 9.99 15 Nucleolus;Nucleus NA 0 PE1 -NX_Q9UHA4 13623 124 6.72 4 Late endosome membrane NA 0 PE1 -NX_Q9UHA7 17684 158 5.89 2 Secreted NA 0 PE1 -NX_Q9UHB4 66763 597 5.95 9 Cytosol;Perinuclear region;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q9UHB6 85226 759 6.41 12 Stress fiber;Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Cytoskeleton NA 0 PE1 -NX_Q9UHB7 127459 1163 9.33 5 Nucleolus;Nucleus CHOPS syndrome 0 PE1 -NX_Q9UHB9 70730 627 8.75 17 Cytosol;Cytoplasm;Focal adhesion;Nucleolus NA 0 PE1 -NX_Q9UHC1 163711 1453 6.33 14 Nucleus Hereditary non-polyposis colorectal cancer 7;Colorectal cancer 0 PE1 -NX_Q9UHC3 58905 531 6.73 7 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA 2 PE1 -NX_Q9UHC6 148167 1331 6.12 7 Paranodal septate junction;Axon;Membrane Autism 15;Pitt-Hopkins-like syndrome 1 1 PE1 -NX_Q9UHC7 53349 482 5.05 7 NA NA 0 PE1 -NX_Q9UHC9 148728 1359 5.95 7 Cytoplasmic vesicle membrane;Apical cell membrane;Cell membrane NA 13 PE1 -NX_Q9UHD0 20452 177 7.62 1 Secreted NA 0 PE1 -NX_Q9UHD1 37490 332 8.1 11 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9UHD2 83642 729 6.32 12 Nucleoplasm;Cytoplasm Glaucoma 1, open angle, P;Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;Encephalopathy, acute, infection-induced, herpes-specific, 8 0 PE1 -NX_Q9UHD4 24678 219 9.01 14 NA NA 0 PE1 -NX_Q9UHD8 65401 586 9.06 17 Cytoskeleton Hereditary neuralgic amyotrophy 0 PE1 -NX_Q9UHD9 65696 624 5.15 X Cytosol;Cytoplasm;Cell membrane;Nucleus;Autophagosome;Membrane Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia 0 PE1 -NX_Q9UHE5 25619 227 9.08 2 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE1 -NX_Q9UHE8 39851 339 9.28 7 Endosome membrane NA 6 PE1 -NX_Q9UHF0 13438 121 6.74 12 Cytoplasmic vesicle;Secreted Hypogonadotropic hypogonadism 10 with or without anosmia 0 PE1 -NX_Q9UHF1 29618 273 8.58 9 Extracellular space NA 0 PE1 -NX_Q9UHF3 25366 227 9.39 2 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE5 -NX_Q9UHF4 62485 553 4.78 6 Cytosol;Membrane NA 1 PE1 -NX_Q9UHF5 20437 180 9.46 5 Secreted NA 0 PE1 -NX_Q9UHF7 141521 1281 7.53 8 Nucleoplasm;Nucleus Tricho-rhino-phalangeal syndrome 3;Tricho-rhino-phalangeal syndrome 2;Tricho-rhino-phalangeal syndrome 1 0 PE1 -NX_Q9UHG0 52834 476 5.84 6 Cytosol;Cilium;Cilium axoneme;Kinocilium;Cytoskeleton;Microtubule organizing center;Spindle Deafness, autosomal recessive, 66;Sclerosing cholangitis, neonatal;Nephronophthisis 19;Dyslexia 2 0 PE1 -NX_Q9UHG2 27372 260 6.22 X Cytoplasmic vesicle;trans-Golgi network;Secreted NA 0 PE1 -NX_Q9UHG3 56640 505 5.8 2 Lysosome NA 0 PE1 -NX_Q9UHH9 49186 426 6.37 3 Nucleolus;Nucleus;Cell junction NA 0 PE1 -NX_Q9UHI5 58382 535 5.69 14 Cytoplasm;Basolateral cell membrane NA 12 PE1 -NX_Q9UHI6 92241 824 6.49 1 Cytosol;Nucleoplasm;Nucleus;Gem;Cytoplasm NA 0 PE1 -NX_Q9UHI7 64831 598 6.16 5 Cell membrane NA 12 PE1 -NX_Q9UHI8 105358 967 6.4 21 Extracellular matrix NA 0 PE1 -NX_Q9UHJ3 98141 866 5.86 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UHJ6 51491 478 6.35 17 Nucleoplasm;Nucleus speckle;Cytoplasm Sedoheptulokinase deficiency 0 PE1 -NX_Q9UHJ9 29400 254 8.47 11 Endoplasmic reticulum membrane;Cytoskeleton;Golgi apparatus membrane Hyperphosphatasia with mental retardation syndrome 3 5 PE1 -NX_Q9UHK0 56300 495 9.21 13 Nucleolus;Nucleus NA 0 PE1 -NX_Q9UHK6 42387 382 6.07 5 Mitochondrion;Cytoplasmic vesicle;Cell membrane;Peroxisome Congenital bile acid synthesis defect 4;Alpha-methylacyl-CoA racemase deficiency 0 PE1 -NX_Q9UHL0 54692 483 5.89 11 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UHL3 34712 310 4.68 5 NA NA 0 PE2 -NX_Q9UHL4 54341 492 5.91 9 Cytoplasmic vesicle;Lysosome;Golgi apparatus;Secreted NA 0 PE1 -NX_Q9UHL9 106057 959 6.45 7 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9UHM6 52635 478 9.35 10 Cell membrane NA 7 PE1 -NX_Q9UHN1 54911 485 8.64 17 Mitochondrion;Nucleus Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 0 PE1 -NX_Q9UHN6 154374 1383 8.41 9 Cytoplasmic vesicle;Cytosol;Cell membrane NA 1 PE1 -NX_Q9UHP3 122218 1055 5.22 21 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UHP6 38592 348 6.43 22 Nucleolus NA 0 PE1 -NX_Q9UHP7 21849 191 6.37 12 Nucleoplasm;Endoplasmic reticulum;Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q9UHP9 9559 88 9.21 X Cell membrane Deafness, X-linked, 4 0 PE1 -NX_Q9UHQ1 51156 456 6.63 17 Nucleolus;Nucleus NA 0 PE1 -NX_Q9UHQ4 28320 241 9.55 7 Endoplasmic reticulum membrane;Cytosol NA 3 PE1 -NX_Q9UHQ7 12749 104 5.35 X Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UHQ9 34095 305 9.41 1 Cytosol;Mitochondrion;Nucleolus;Membrane NA 1 PE1 -NX_Q9UHR4 56883 511 8.82 7 Cytosol;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9UHR5 33870 308 4.74 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UHR6 42884 403 5.69 11 NA NA 0 PE1 -NX_Q9UHT4 8314 67 10.1 7 NA NA 0 PE5 -NX_Q9UHU1 4899 43 8.16 11 NA NA 0 PE5 -NX_Q9UHV2 24704 236 4.29 19 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q9UHV5 73265 662 5.94 17 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9UHV7 239297 2174 5.4 17 Nucleus NA 0 PE1 -NX_Q9UHV8 16119 139 5.43 19 Cytoplasm;Nucleus matrix NA 0 PE1 -NX_Q9UHV9 16648 154 6.2 1 Mitochondrion;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9UHW5 32761 284 4.38 12 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q9UHW9 127617 1150 6.64 15 Cytosol;Cytoplasmic vesicle;Basolateral cell membrane Agenesis of the corpus callosum, with peripheral neuropathy 12 PE1 -NX_Q9UHX1 59875 559 5.19 8 Nucleoplasm;Cytoplasm;Nucleus Verheij syndrome 0 PE1 -NX_Q9UHX3 90472 823 6.47 19 Cytoplasmic vesicle;Ruffle membrane;Cell membrane Vibratory urticaria 7 PE1 -NX_Q9UHY1 59845 535 5.02 2 Cytosol;Lamellipodium;Cell cortex;Endomembrane system NA 0 PE1 -NX_Q9UHY7 28933 261 4.66 4 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UHY8 39666 353 4.52 2 Cytosol;Nucleolus;Golgi apparatus NA 0 PE1 -NX_Q9UI08 44620 416 8.91 14 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Stress fiber;Lamellipodium NA 0 PE1 -NX_Q9UI09 17114 145 9.63 12 Mitochondrion;Mitochondrion inner membrane Leigh syndrome 0 PE1 -NX_Q9UI10 57557 523 9.45 2 Cytoskeleton;Nucleus membrane Leukodystrophy with vanishing white matter 0 PE1 -NX_Q9UI12 55883 483 6.07 8 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9UI14 20648 185 6.83 19 Nucleolus;Nucleus membrane;Golgi apparatus;Cytoplasm;Cell membrane;Synaptic vesicle NA 4 PE1 -NX_Q9UI15 22473 199 6.84 3 NA NA 0 PE1 -NX_Q9UI17 96811 866 7.31 5 Mitochondrion DMGDH deficiency 0 PE1 -NX_Q9UI25 6971 63 6.23 16 NA NA 0 PE5 -NX_Q9UI26 112535 975 5.14 5 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UI30 14199 125 5.21 11 Nucleoplasm;Perinuclear region;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q9UI32 66323 602 6.9 12 Mitochondrion NA 0 PE1 -NX_Q9UI33 204922 1791 8.32 3 Cell membrane Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, 7 24 PE1 -NX_Q9UI36 78562 758 8.75 13 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9UI38 43088 385 8.58 3 Endoplasmic reticulum NA 0 PE1 -NX_Q9UI40 73664 661 5.71 9 Membrane NA 11 PE1 -NX_Q9UI42 47351 421 6.23 7 Cytosol;Nucleoplasm;Centrosome;Secreted NA 0 PE1 -NX_Q9UI43 27424 246 9.6 7 Mitochondrion NA 0 PE1 -NX_Q9UI46 79283 699 6.4 9 Cilium;Cilium axoneme Kartagener syndrome;Ciliary dyskinesia, primary, 1 0 PE1 -NX_Q9UI47 99809 895 5.83 10 Cytoskeleton Arrhythmogenic right ventricular dysplasia, familial, 13 0 PE1 -NX_Q9UI54 6387 55 10.3 20 NA NA 0 PE5 -NX_Q9UI72 8249 69 9.35 5 NA NA 0 PE5 -NX_Q9UI95 24334 211 6.05 1 Nucleolus;Cytosol;Cytoplasm;Nucleus;Spindle;Chromosome Fanconi anemia, complementation group V 0 PE1 -NX_Q9UIA0 45672 394 6.08 22 Cell membrane NA 0 PE1 -NX_Q9UIA9 123907 1087 5.91 8 Cytoplasm;Nuclear pore complex;Nucleus NA 0 PE1 -NX_Q9UIB8 38782 345 6.61 1 Cell membrane NA 1 PE1 -NX_Q9UIC8 38379 334 5.73 16 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9UID3 86042 782 6.06 11 Cytoplasmic vesicle;Recycling endosome;Nucleolus;trans-Golgi network;Golgi apparatus NA 0 PE1 -NX_Q9UID6 56054 485 5.3 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UIE0 54542 474 8.75 19 Mitochondrion;Nucleus NA 0 PE1 -NX_Q9UIF3 49672 430 5.39 1 Cytoskeleton;Flagellum axoneme;Cilium axoneme;Microtubule organizing center NA 0 PE1 -NX_Q9UIF7 60069 546 8.99 1 Mitochondrion;Nucleus Gastric cancer;Familial adenomatous polyposis 2 0 PE1 -NX_Q9UIF8 240459 2168 6.13 2 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UIF9 211198 1905 6.22 12 Nucleus speckle;Nucleolus NA 0 PE1 -NX_Q9UIG0 170903 1483 8.7 7 Nucleus NA 0 PE1 -NX_Q9UIG4 15101 136 4.48 6 Secreted NA 0 PE2 -NX_Q9UIG5 16580 152 5.93 6 Nucleus NA 0 PE2 -NX_Q9UIG8 76553 710 6.34 15 Cell membrane NA 12 PE1 -NX_Q9UIH9 43992 416 8.48 3 Nucleus NA 0 PE1 -NX_Q9UII2 12249 106 9.34 1 Mitochondrion NA 0 PE1 -NX_Q9UII4 116852 1024 7.71 4 Perinuclear region NA 0 PE1 -NX_Q9UII5 90673 783 9.43 7 Nucleus NA 0 PE1 -NX_Q9UII6 22149 198 9.27 10 NA NA 0 PE1 -NX_Q9UIJ5 42022 367 8.7 8 Membrane NA 4 PE1 -NX_Q9UIJ7 25565 227 9.15 9 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q9UIK4 42898 370 6.45 15 Autophagosome lumen;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q9UIK5 41428 374 5.01 2 Cytoskeleton;Membrane;Secreted NA 1 PE1 -NX_Q9UIL1 18045 159 9 4 Cytosol;Nucleoplasm;Golgi apparatus membrane;Golgi apparatus;trans-Golgi network NA 0 PE1 -NX_Q9UIL4 40686 384 8.61 6 Centrosome NA 0 PE2 -NX_Q9UIL8 37582 331 7.87 13 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9UIM3 38176 349 5.38 6 Nucleoplasm NA 0 PE1 -NX_Q9UIQ6 117349 1025 5.5 5 Cell membrane;Secreted NA 1 PE1 -NX_Q9UIR0 50436 455 4.96 6 Membrane Sarcoidosis 2 1 PE2 -NX_Q9UIS9 66607 605 9.32 18 Nucleus speckle;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Nucleus matrix;Chromosome NA 0 PE1 -NX_Q9UIU6 82933 781 5.45 14 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UIV1 32745 285 4.77 8 P-body;Nucleus NA 0 PE1 -NX_Q9UIV8 44276 391 5.48 18 Cytosol;Cytoplasm;Nucleus speckle NA 0 PE1 -NX_Q9UIW0 30874 290 9.56 2 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9UIW2 211067 1896 6.49 3 Cytosol;Nucleus;Cell membrane NA 1 PE1 -NX_Q9UIX4 57913 513 5.94 20 Cytoplasmic vesicle;Cell membrane NA 6 PE1 -NX_Q9UIY3 33893 292 6.01 6 NA NA 0 PE1 -NX_Q9UJ04 45126 414 8.8 6 NA NA 0 PE1 -NX_Q9UJ14 70467 662 4.96 20 Cytoplasmic vesicle;Nucleus;Membrane NA 1 PE1 -NX_Q9UJ37 41939 374 9.38 17 Golgi apparatus membrane NA 1 PE1 -NX_Q9UJ41 79371 708 6.42 7 Cytosol;Cytoplasm;Recycling endosome;Nucleolus;Early endosome NA 0 PE1 -NX_Q9UJ42 39787 338 8.84 3 Cell membrane NA 7 PE2 -NX_Q9UJ55 132822 1249 9.55 15 Cytoplasm;Nucleus;Early endosome Schaaf-Yang syndrome 0 PE1 -NX_Q9UJ68 26132 235 8.22 8 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Membrane;Mitochondrion NA 0 PE1 -NX_Q9UJ70 37376 344 5.82 2 Cytosol;Nucleus NA 0 PE1 -NX_Q9UJ71 36725 328 8.45 2 Cytosol;Membrane Birbeck granule deficiency 1 PE1 -NX_Q9UJ72 37278 324 5.13 4 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UJ78 74817 669 8.5 13 Nucleus NA 0 PE1 -NX_Q9UJ83 63729 578 7.08 3 Peroxisome NA 0 PE1 -NX_Q9UJ90 14993 142 5.9 X Cytosol;Membrane Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis 1 PE1 -NX_Q9UJ94 16537 153 6.04 21 NA NA 0 PE5 -NX_Q9UJ96 51240 466 9.33 18 Membrane NA 6 PE1 -NX_Q9UJ98 139034 1225 5.23 7 Centromere;Nucleus;Chromosome Premature ovarian failure 8 0 PE1 -NX_Q9UJ99 89091 828 4.62 20 Cell membrane NA 1 PE1 -NX_Q9UJA2 32593 301 9.73 20 Mitochondrion inner membrane NA 5 PE1 -NX_Q9UJA3 93697 840 7.82 20 Nucleoplasm;Nucleus;Chromosome Premature ovarian failure 10 0 PE1 -NX_Q9UJA5 55799 497 7.18 20 Nucleus NA 0 PE1 -NX_Q9UJA9 54666 477 5.94 6 Secreted;Membrane NA 1 PE1 -NX_Q9UJC3 84648 728 5.09 1 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q9UJC5 12326 107 6.3 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UJD0 32796 308 9.38 1 Mitochondrion;Synapse;Nucleolus NA 0 PE1 -NX_Q9UJF2 128558 1139 8.52 1 Focal adhesion;Cell membrane NA 0 PE1 -NX_Q9UJG1 24086 213 7.66 X Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus membrane;Nucleoplasm NA 2 PE1 -NX_Q9UJH8 31207 293 8.47 16 Cytosol;Nucleoplasm;Nucleus membrane;Secreted NA 0 PE1 -NX_Q9UJJ7 34756 312 6.6 16 Cytosol;Nucleus;Cell junction;Golgi apparatus NA 0 PE1 -NX_Q9UJJ9 33974 305 6.47 16 Cytosol;Endoplasmic reticulum;Golgi apparatus;Secreted Mucolipidosis type III complementation group C 0 PE1 -NX_Q9UJK0 33596 312 6.48 16 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q9UJL9 61481 534 9.23 1 Cytosol;Nucleus NA 0 PE1 -NX_Q9UJM3 50560 462 8.38 1 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9UJM8 40924 370 8.2 20 Peroxisome NA 0 PE1 -NX_Q9UJN7 40659 358 8.94 6 Nucleus NA 0 PE1 -NX_Q9UJP4 66617 597 5.17 1 Spindle;Centrosome NA 0 PE1 -NX_Q9UJQ1 31472 280 5.99 20 Synaptic vesicle membrane;Cytosol;Early endosome membrane;Cell membrane;Microtubule organizing center;Endosome membrane;Dendrite;Endoplasmic reticulum-Golgi intermediate compartment membrane;Growth cone membrane;Spindle;Cytoplasmic vesicle membrane;Recycling endosome NA 1 PE1 -NX_Q9UJQ4 112231 1053 7.2 20 Nucleoplasm;Cytoplasm;Nucleus Duane-radial ray syndrome;Oculootoradial syndrome 0 PE1 -NX_Q9UJQ7 17663 156 9.33 20 NA NA 0 PE2 -NX_Q9UJS0 74176 675 8.79 7 Mitochondrion;Mitochondrion inner membrane Citrullinemia 2;Cholestasis, neonatal intrahepatic, caused by citrin deficiency 6 PE1 -NX_Q9UJT0 52932 475 6.17 6 Centrosome NA 0 PE1 -NX_Q9UJT1 51034 453 6.35 17 Cytosol;Cytoplasm;Centriole;Nucleoplasm;Nucleus;Cilium NA 0 PE1 -NX_Q9UJT2 65050 592 5.7 19 Centriole NA 0 PE1 -NX_Q9UJT9 54575 491 8.67 5 Centrosome NA 0 PE1 -NX_Q9UJU2 44201 399 6.9 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UJU3 105842 913 8.6 19 Nucleus;Centrosome NA 0 PE1 -NX_Q9UJU5 47630 478 6.01 1 Nucleus Autoimmune disease 1 0 PE1 -NX_Q9UJU6 48207 430 5.02 7 Synapse;Ruffle;Cytosol;Cell projection;Cell cortex;Cell membrane;Nucleoplasm;Golgi apparatus membrane;Clathrin-coated vesicle membrane;Early endosome;Lamellipodium;Cytoskeleton;Podosome NA 0 PE1 -NX_Q9UJV3 83210 735 7.24 X Cytoplasm;Cytoskeleton Mental retardation, X-linked 101 0 PE1 -NX_Q9UJV8 39556 347 9.57 8 Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_Q9UJV9 69838 622 6.4 5 Nucleus Myeloproliferative/lymphoproliferative neoplasms, familial 0 PE1 -NX_Q9UJW0 52337 460 7.1 5 Stress fiber;Cell cortex;Nucleus;Sarcomere;Cytoskeleton;Centrosome NA 0 PE1 -NX_Q9UJW2 54605 476 8.31 6 Basement membrane NA 0 PE1 -NX_Q9UJW3 43583 386 5.59 21 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9UJW7 93707 825 8.88 19 Cytoplasmic vesicle;Nucleus;Cell membrane NA 0 PE1 -NX_Q9UJW8 79111 692 8.04 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UJW9 21769 196 4.56 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q9UJX0 60849 560 7.01 16 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9UJX2 68834 597 6.59 5 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UJX3 66855 599 5.45 12 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9UJX4 85077 755 6.4 12 Nucleoplasm NA 0 PE1 -NX_Q9UJX5 92116 808 5.36 4 Cytoskeleton NA 0 PE1 -NX_Q9UJX6 93828 822 5.12 9 Nucleoplasm NA 0 PE1 -NX_Q9UJY1 21604 196 5 12 Cytosol;Cytoplasm;Nucleus Charcot-Marie-Tooth disease 2L;Neuronopathy, distal hereditary motor, 2A 0 PE1 -NX_Q9UJY4 67150 613 6.13 16 Endosome membrane;Early endosome membrane;trans-Golgi network membrane;Golgi apparatus NA 0 PE1 -NX_Q9UJY5 70384 639 5.18 22 Nucleoplasm;Cytoplasmic vesicle;Early endosome membrane;Endosome membrane;trans-Golgi network membrane NA 0 PE1 -NX_Q9UJZ1 38534 356 6.87 9 Cytosol;Cell membrane;Mitochondrion inner membrane;Mitochondrion intermembrane space;Mitochondrion;Cytoskeleton;Membrane raft NA 0 PE1 -NX_Q9UK00 17468 162 5.36 3 Cytosol;Membrane NA 1 PE2 -NX_Q9UK05 47320 429 6.03 10 Secreted Telangiectasia, hereditary hemorrhagic, 5 0 PE1 -NX_Q9UK08 7841 70 6.55 19 Cell membrane NA 0 PE1 -NX_Q9UK10 82471 706 9.18 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UK11 55763 482 9.04 19 Mitochondrion;Nucleus NA 0 PE1 -NX_Q9UK12 52484 451 8.96 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UK13 71197 617 8.8 19 Nucleus NA 0 PE1 -NX_Q9UK17 73451 655 8.56 1 Dendrite;Sarcolemma;Cell membrane Brugada syndrome 9;Spinocerebellar ataxia 19 6 PE1 -NX_Q9UK22 33328 296 4.29 1 Cytosol;Microsome membrane;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9UK23 56073 515 6.15 16 Golgi stack membrane;trans-Golgi network NA 1 PE1 -NX_Q9UK28 37619 342 6.11 19 Nucleoplasm;Cytoskeleton;Golgi apparatus membrane NA 1 PE1 -NX_Q9UK32 83872 745 5.92 X Cytosol;Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UK33 18756 172 10.13 19 Nucleus NA 0 PE1 -NX_Q9UK39 48196 431 6.85 4 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus;Cytosol NA 0 PE1 -NX_Q9UK41 25425 221 5.37 8 Late endosome membrane;Cell membrane NA 0 PE1 -NX_Q9UK45 11602 103 5.1 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q9UK53 46738 422 9.28 13 Nucleoplasm;Cytosol;Nucleus Squamous cell carcinoma of the head and neck 0 PE1 -NX_Q9UK55 50707 444 8.28 14 Cytosol;Nucleoplasm;Secreted NA 0 PE1 -NX_Q9UK58 59634 526 10.71 3 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9UK59 61555 544 5.25 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UK61 189032 1670 5.55 3 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q9UK73 70264 627 6.14 15 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9UK76 16015 154 5.47 17 Cytoplasm;Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9UK80 62656 565 9.91 1 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9UK85 27007 242 8.1 19 Cytoplasmic vesicle;Secreted;Nucleus membrane;Endoplasmic reticulum;Acrosome NA 0 PE1 -NX_Q9UK96 105195 956 8.47 9 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UK97 52329 447 5.8 6 Cytoplasm;Centrosome;Cell membrane NA 0 PE1 -NX_Q9UK99 54561 471 4.88 11 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9UKA1 78555 691 5.32 4 Perinuclear region NA 0 PE1 -NX_Q9UKA2 70097 621 6.1 6 Mitochondrion;Cytoplasm;Nucleus;Nucleus speckle Mitochondrial DNA depletion syndrome 13 0 PE1 -NX_Q9UKA4 210512 1901 5.23 13 Cytosol;Cytoplasm;Nucleolus;Centrosome;Cell membrane NA 0 PE1 -NX_Q9UKA8 27492 241 4.54 1 Nucleus speckle;Nucleolus NA 0 PE1 -NX_Q9UKA9 57491 531 8.72 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UKB1 62091 542 6.73 5 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UKB3 23415 198 5.51 10 Cytoplasm Hyperphenylalaninemia, mild, non-BH4-deficient 0 PE1 -NX_Q9UKB5 44536 411 9.63 1 Adherens junction;Apical cell membrane;Basolateral cell membrane NA 1 PE1 -NX_Q9UKC9 47062 423 7.4 3 Nucleolus;Nucleus;Cell membrane;Membrane NA 0 PE1 -NX_Q9UKD1 56421 530 5.38 20 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UKD2 27560 239 8.34 1 Cytoplasm;Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9UKE5 154943 1360 6.7 3 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Recycling endosome;Cytoskeleton Mental retardation, autosomal recessive 54 0 PE1 -NX_Q9UKF2 88940 790 7.84 1 Late endosome membrane NA 1 PE1 -NX_Q9UKF5 92759 820 7.29 4 Membrane NA 1 PE1 -NX_Q9UKF6 77486 684 5.37 2 Nucleus NA 0 PE1 -NX_Q9UKF7 38388 332 5.99 17 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9UKG1 79663 709 5.28 3 Spindle;Early endosome membrane;Nucleus;Centrosome Maturity-onset diabetes of the young 14 0 PE1 -NX_Q9UKG4 69358 626 7.16 7 Membrane NA 12 PE1 -NX_Q9UKG9 70178 612 6.63 7 Cytoplasmic vesicle;Peroxisome NA 0 PE1 -NX_Q9UKH3 79016 698 9.15 6 Virion;Cell membrane NA 1 PE1 -NX_Q9UKI2 27678 254 5.49 2 Cytoskeleton;Cell membrane;Endomembrane system NA 0 PE1 -NX_Q9UKI3 13710 123 5.1 22 NA NA 0 PE1 -NX_Q9UKI8 86700 766 8.88 2 Nucleus NA 0 PE1 -NX_Q9UKI9 47432 436 8.66 11 Nucleus NA 0 PE2 -NX_Q9UKJ0 25542 227 10.39 7 Mitochondrion;Membrane NA 1 PE1 -NX_Q9UKJ1 34005 303 10.22 7 Cell membrane;Secreted NA 1 PE1 -NX_Q9UKJ3 164197 1502 8.81 17 Mitochondrion;Nucleus speckle NA 0 PE1 -NX_Q9UKJ5 19254 165 6.34 4 Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q9UKJ8 80834 722 6.22 14 Membrane NA 1 PE1 -NX_Q9UKK3 192595 1724 5.43 13 Cytosol;Cytoplasm;Spindle;Nucleus NA 0 PE1 -NX_Q9UKK6 15847 140 4.91 20 Nucleoplasm;Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9UKK9 24328 219 4.87 10 Cytoplasmic vesicle;Nucleus;Centrosome NA 0 PE1 -NX_Q9UKL0 53327 485 6.56 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UKL2 35322 312 8.89 11 Cell membrane NA 7 PE2 -NX_Q9UKL3 222658 1982 6.14 6 Mitochondrion;Cytoplasm;Nucleolus;Nucleus;PML body NA 0 PE1 -NX_Q9UKL4 36093 321 8.95 15 Gap junction;Cell membrane NA 4 PE1 -NX_Q9UKL6 24843 214 5.62 17 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UKM7 79580 699 7.38 9 Endoplasmic reticulum membrane;Cytoplasmic vesicle Mental retardation, autosomal recessive 15 1 PE1 -NX_Q9UKM9 32463 306 9.2 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UKN1 558164 5478 5.31 7 Membrane NA 1 PE1 -NX_Q9UKN5 87920 801 5.93 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UKN7 395293 3530 9.26 17 Cytoskeleton;Stereocilium Deafness, autosomal recessive, 3 0 PE1 -NX_Q9UKN8 91982 822 6.21 9 Nucleus NA 0 PE1 -NX_Q9UKP3 38382 347 5.04 X Cytosol NA 0 PE1 -NX_Q9UKP4 184095 1686 5.81 15 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_Q9UKP5 125273 1117 6.24 5 Extracellular matrix NA 0 PE1 -NX_Q9UKP6 42130 389 10.68 17 Cell membrane NA 7 PE1 -NX_Q9UKQ2 87148 775 6.55 8 Mitochondrion;Cell membrane;Secreted NA 1 PE1 -NX_Q9UKQ9 27513 250 7.1 19 Secreted NA 0 PE1 -NX_Q9UKR0 26734 248 7.57 19 Secreted NA 0 PE1 -NX_Q9UKR3 30570 277 8.78 19 Secreted NA 0 PE1 -NX_Q9UKR5 15864 140 9.86 14 Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleoplasm NA 4 PE1 -NX_Q9UKR8 26266 245 8.61 19 Membrane NA 4 PE1 -NX_Q9UKS6 48487 424 5.83 11 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9UKS7 59574 526 6.3 2 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9UKT4 50146 447 9.17 6 Nucleoplasm;Cytoplasm;Spindle;Nucleus NA 0 PE1 -NX_Q9UKT5 44136 387 5.77 5 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UKT6 49152 434 6.02 5 Cytosol;Nucleus NA 0 PE1 -NX_Q9UKT7 48707 428 6.41 13 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UKT8 51512 454 6.11 9 Nucleoplasm NA 0 PE1 -NX_Q9UKT9 58023 509 6.11 17 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9UKU0 77752 697 7.2 5 Endoplasmic reticulum membrane;Microsome membrane;Peroxisome membrane;Mitochondrion outer membrane NA 1 PE1 -NX_Q9UKU6 117000 1024 6.51 12 Membrane NA 1 PE1 -NX_Q9UKU7 45070 415 8.12 11 Mitochondrion Isobutyryl-CoA dehydrogenase deficiency 0 PE1 -NX_Q9UKU9 57104 493 7.23 9 Golgi apparatus;Secreted NA 0 PE1 -NX_Q9UKV0 111297 1011 6.4 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UKV3 151862 1341 6.08 14 Nucleoplasm;Nucleus speckle;Nucleus;Cytosol;Cell membrane NA 0 PE1 -NX_Q9UKV5 72996 643 5.95 16 Endoplasmic reticulum membrane;Endoplasmic reticulum;Golgi apparatus NA 7 PE1 -NX_Q9UKV8 97208 859 9.32 8 Nucleoplasm;P-body;Nucleus;Cell junction NA 0 PE1 -NX_Q9UKW4 97776 847 6.65 1 NA NA 0 PE1 -NX_Q9UKW6 31263 265 5.81 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UKX2 223044 1941 5.64 17 Cytoplasm;Myofibril Myopathy, proximal, and ophthalmoplegia 0 PE1 -NX_Q9UKX3 223605 1938 5.54 17 Myofibril NA 0 PE1 -NX_Q9UKX5 133470 1188 6.24 15 Membrane NA 1 PE1 -NX_Q9UKX7 50144 468 6.64 22 Nucleoplasm;Nuclear pore complex;Nucleus membrane NA 0 PE1 -NX_Q9UKY0 20293 176 9.24 20 Cell membrane NA 0 PE1 -NX_Q9UKY1 98098 873 5.76 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UKY3 30679 287 7.83 16 Secreted NA 0 PE5 -NX_Q9UKY4 84214 750 9.25 14 Endoplasmic reticulum membrane Muscular dystrophy-dystroglycanopathy limb-girdle C2;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 10 PE1 -NX_Q9UKY7 27335 258 6.06 3 Cytosol;Cytoplasm;Nucleolus;Cell membrane NA 0 PE1 -NX_Q9UKZ1 55215 510 5.99 2 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UKZ4 305011 2725 5.98 X Nucleus speckle;Cytoplasm;Cell membrane;Nucleus;Nucleus matrix;Cytoskeleton NA 1 PE1 -NX_Q9UKZ9 45717 415 8.81 3 Cytosol;Nucleoplasm;Secreted NA 0 PE1 -NX_Q9UL01 109773 958 8.23 6 Cytosol;Nucleoplasm;Membrane Ehlers-Danlos syndrome, musculocontractural type 2 2 PE1 -NX_Q9UL03 100390 887 8.79 13 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9UL12 101037 918 6.8 9 Mitochondrion matrix;Mitochondrion Sarcosinemia 0 PE1 -NX_Q9UL15 51200 447 5.76 14 Cytoplasmic vesicle NA 0 PE1 -NX_Q9UL16 65730 551 8.94 1 Nucleoplasm;Cilium NA 0 PE1 -NX_Q9UL17 58328 535 5.67 17 Nucleus Asthma, with nasal polyps and aspirin intolerance 0 PE1 -NX_Q9UL18 97214 857 9.27 1 P-body NA 0 PE1 -NX_Q9UL19 18179 164 8.78 11 Membrane NA 1 PE1 -NX_Q9UL25 24348 225 8.11 12 Endoplasmic reticulum membrane;Endosome;Cleavage furrow;Early endosome membrane;Golgi apparatus membrane;trans-Golgi network;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q9UL26 21855 194 8.32 20 Cytoplasmic vesicle;Late endosome;Ruffle;Phagosome;Endosome membrane;Cell membrane;Early endosome;Phagosome membrane;Centrosome NA 0 PE1 -NX_Q9UL33 16146 140 6.28 16 Cytoplasmic vesicle;Cytosol;Perinuclear region;Golgi apparatus;Endoplasmic reticulum NA 0 PE1 -NX_Q9UL36 203704 1845 8.46 18 Nucleus NA 0 PE1 -NX_Q9UL40 32933 294 9.24 5 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UL41 52376 463 9.59 X Nucleolus;Nucleus NA 0 PE1 -NX_Q9UL42 41509 364 4.84 8 Nucleolus NA 0 PE1 -NX_Q9UL45 19744 172 6.01 15 Cytoplasm;Membrane Hermansky-Pudlak syndrome 9 0 PE1 -NX_Q9UL46 27402 239 5.54 14 Nucleus NA 0 PE1 -NX_Q9UL49 52697 500 6.44 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UL51 96950 889 9.15 19 Cell membrane NA 6 PE1 -NX_Q9UL52 47696 423 8.85 4 Cell membrane;Secreted NA 1 PE1 -NX_Q9UL54 138251 1235 6.84 16 Nucleolus;Cytosol;Dendrite;Nucleus;Cytoskeleton;Cytoplasmic vesicle membrane NA 5 PE1 -NX_Q9UL58 60034 517 8.96 11 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UL59 70992 606 8.84 11 Nucleus NA 0 PE1 -NX_Q9UL62 111412 973 6.94 X Cell membrane NA 6 PE1 -NX_Q9UL63 84768 735 5.91 7 Synapse;Ruffle;Cytosol;Cytoplasm;Cell cortex;Cell membrane;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q9UL68 133043 1186 4.86 2 Cytoplasmic vesicle;Nucleus;Chromosome Mental retardation, autosomal dominant 39 0 PE1 -NX_Q9ULA0 52428 475 7.03 2 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9ULB1 161883 1477 5.61 2 Synapse;Nucleolus;Cell membrane Pitt-Hopkins-like syndrome 2;Schizophrenia 17 1 PE1 -NX_Q9ULB4 88689 789 4.73 5 Cell membrane NA 1 PE1 -NX_Q9ULB5 87086 785 4.64 18 Cell membrane NA 1 PE1 -NX_Q9ULC0 27452 261 7.72 4 Secreted;Cell membrane;Membrane NA 1 PE1 -NX_Q9ULC3 26659 237 6.22 6 Cytosol;Cytoplasm;Phagosome;Endosome membrane;Cell membrane;Phagosome membrane;Autophagosome Carpenter syndrome 1 0 PE1 -NX_Q9ULC4 20555 181 8.98 X Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9ULC5 75991 683 6.49 10 Mitochondrion;Endoplasmic reticulum membrane;Nucleus;Endoplasmic reticulum;Mitochondrion outer membrane NA 1 PE1 -NX_Q9ULC6 74666 663 6.07 1 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9ULC8 81443 765 9.33 22 Nucleoplasm;Cytosol;Cytoplasmic vesicle membrane NA 4 PE1 -NX_Q9ULD0 114481 1010 6.18 10 Mitochondrion matrix;Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q9ULD2 141397 1270 7.33 8 Nucleolus;Golgi apparatus;Cell membrane;Centrosome;Nucleus;Mitochondrion;Cytoskeleton;Spindle Hepatocellular carcinoma 0 PE1 -NX_Q9ULD4 135745 1205 6.17 6 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q9ULD5 85176 760 5.62 7 Nucleus NA 0 PE1 -NX_Q9ULD6 105648 942 5.59 4 Cytoplasm;Cell surface;Cytoplasmic vesicle;Cilium basal body Orofaciodigital syndrome 17;Short-rib thoracic dysplasia 7/20 with polydactyly, digenic;Short-rib thoracic dysplasia 20 with polydactyly 0 PE1 -NX_Q9ULD8 117129 1083 8.25 12 Mitochondrion;Nucleus;Membrane NA 6 PE1 -NX_Q9ULD9 162208 1512 8.92 5 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9ULE0 122676 1092 6 X Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9ULE3 113853 1009 9.11 7 Cytoskeleton NA 0 PE1 -NX_Q9ULE4 121044 1060 5.87 4 NA NA 0 PE1 -NX_Q9ULE6 96754 856 6.08 10 Cytosol NA 0 PE1 -NX_Q9ULF5 94132 831 6.25 2 Nucleoplasm;Cytosol;Cell membrane;Membrane NA 7 PE1 -NX_Q9ULG1 176753 1556 9.53 15 Nucleoplasm;Cytoplasm;Spindle;Nucleus;Chromosome NA 0 PE1 -NX_Q9ULG3 46740 409 8.11 3 Cytosol;Cell junction NA 0 PE1 -NX_Q9ULG6 87340 757 5.67 15 Golgi apparatus;Cytoplasmic granule membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q9ULH0 196542 1771 6.19 2 Nucleoplasm;Late endosome;Membrane Spastic paraplegia, intellectual disability, nystagmus, and obesity 4 PE1 -NX_Q9ULH1 125498 1129 6.95 8 Cytosol;Cytoplasm;Centrosome;Cell membrane;Membrane NA 0 PE1 -NX_Q9ULH4 84731 789 6.27 6 Cytoplasmic vesicle;Synapse;Postsynaptic cell membrane;Membrane NA 1 PE1 -NX_Q9ULH7 118127 1088 5.89 16 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9ULI0 164914 1458 6.36 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9ULI1 197466 1742 5.85 4 NA NA 0 PE1 -NX_Q9ULI2 42464 386 5.67 12 Nucleoplasm;Cytoplasm;Microtubule organizing center NA 0 PE1 -NX_Q9ULI3 147461 1381 5.8 3 Cytoplasmic vesicle;Cell junction;Cell membrane;Secreted NA 1 PE1 -NX_Q9ULI4 194590 1882 9.12 14 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 -NX_Q9ULJ1 73728 636 6.09 1 Mitochondrion;Centriole;Centriolar satellite;Centrosome;Cilium basal body NA 0 PE1 -NX_Q9ULJ3 118870 1066 8.61 21 Nucleus NA 0 PE1 -NX_Q9ULJ6 115483 1067 7.09 10 Cytoplasmic vesicle;Nucleus speckle;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9ULJ7 155859 1429 6.13 4 Cytosol;Nucleoplasm;Endosome NA 0 PE1 -NX_Q9ULJ8 123342 1098 5.01 7 Synaptosome;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9ULK0 112131 1009 6.23 10 Postsynaptic cell membrane;Cell membrane NA 3 PE1 -NX_Q9ULK2 91514 861 9.82 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9ULK4 156474 1368 7.09 6 Cytoplasmic vesicle;Nucleoplasm;Nucleus Mental retardation, autosomal recessive 18 0 PE1 -NX_Q9ULK5 59714 521 9.27 1 Cell membrane Neural tube defects 4 PE1 -NX_Q9ULK6 48072 438 5.11 4 Membrane NA 1 PE1 -NX_Q9ULL0 187021 1709 8.72 X Acrosome NA 0 PE1 -NX_Q9ULL1 155439 1385 5.84 6 Nucleoplasm NA 0 PE1 -NX_Q9ULL4 206847 1909 5.96 X Cell membrane NA 1 PE1 -NX_Q9ULL5 129991 1215 8.18 19 Cytosol;Synaptosome;Nucleus;Postsynaptic density NA 0 PE1 -NX_Q9ULL8 164857 1493 6.2 X Cytoskeleton Mental retardation, X-linked, syndromic, Stocco dos Santos type 0 PE1 -NX_Q9ULM0 151232 1364 8.17 14 Centrosome NA 0 PE1 -NX_Q9ULM2 61340 529 9.02 19 Nucleus NA 0 PE1 -NX_Q9ULM3 150782 1422 9.1 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9ULM6 63307 557 6.82 5 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9ULN7 68615 635 5.35 19 NA NA 0 PE1 -NX_Q9ULP0 38459 352 5.79 16 Cytosol;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9ULP9 62919 559 7.14 16 Cytoplasm;Cytoplasmic vesicle membrane;Cell junction;Cell membrane Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome;Familial infantile myoclonic epilepsy;Deafness, autosomal dominant, 65;Epileptic encephalopathy, early infantile, 16;Deafness, autosomal recessive, 86 0 PE1 -NX_Q9ULQ0 95360 834 5.65 7 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9ULQ1 94147 816 8.47 12 Endosome membrane;Lysosome membrane NA 12 PE1 -NX_Q9ULR0 32992 285 5.15 3 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9ULR3 56448 514 6.14 12 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9ULR5 14237 123 4.06 2 Cytosol NA 0 PE1 -NX_Q9ULS5 53785 477 8.77 12 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Endoplasmic reticulum NA 2 PE1 -NX_Q9ULS6 54237 477 5.58 8 Cell membrane NA 6 PE1 -NX_Q9ULT0 96185 858 6.03 2 Cytoplasm;Cell membrane Gastrointestinal defects and immunodeficiency syndrome 0 PE1 -NX_Q9ULT6 100574 936 8.14 22 Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q9ULT8 289384 2610 5.21 14 Nucleolus;Nucleus NA 0 PE1 -NX_Q9ULU4 131692 1186 6.83 20 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9ULU8 152786 1353 5.5 3 Cytoplasmic vesicle;Synapse;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q9ULV0 213672 1848 6.77 18 Cytoplasm;Cell membrane Diarrhea 2, with microvillus atrophy 0 PE1 -NX_Q9ULV1 59881 537 7.05 11 Cytosol;Nucleoplasm;Cell membrane;Membrane Vitreoretinopathy, exudative 1 7 PE1 -NX_Q9ULV3 100045 898 5.77 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9ULV4 53249 474 6.65 12 Synapse;Sarcolemma;Cytoplasm;Cell cortex;Cell membrane;Endosome membrane;Ruffle membrane;Sarcomere;Lamellipodium;Cytoskeleton NA 0 PE1 -NX_Q9ULV5 53011 492 5.29 16 Nucleus speckle;Nucleus Cataract 5, multiple types 0 PE1 -NX_Q9ULV8 52456 474 7.83 19 Nucleoplasm NA 0 PE1 -NX_Q9ULW0 85653 747 9.29 20 Nucleoplasm;Spindle pole;Nucleus;Spindle;Microtubule organizing center;Cytoskeleton NA 0 PE1 -NX_Q9ULW2 65336 581 8.83 12 Nucleoplasm;Cell membrane NA 7 PE1 -NX_Q9ULW3 31079 272 9.87 6 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 -NX_Q9ULW5 27900 256 9.43 16 Cytoplasmic vesicle;Golgi apparatus membrane;Secretory vesicle membrane;Centrosome;Cell membrane NA 0 PE1 -NX_Q9ULW6 52542 460 4.39 X Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane NA 0 PE1 -NX_Q9ULW8 74743 664 5.3 1 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm Uncombable hair syndrome 1 0 PE1 -NX_Q9ULX3 46675 412 6.72 16 Cytosol;Focal adhesion;Nucleus NA 0 PE1 -NX_Q9ULX5 68298 631 8.88 17 Nucleus speckle;Endosome;Nucleoplasm;Cytoplasm;Nuclear body;Nucleus;Membrane;Postsynaptic density;Synaptic vesicle NA 2 PE1 -NX_Q9ULX6 71640 646 4.94 19 Nucleus matrix;Cytoplasm;Nucleus;Nucleus speckle;PML body NA 0 PE1 -NX_Q9ULX7 37668 337 5.9 1 Cell membrane;Membrane NA 1 PE1 -NX_Q9ULX9 17760 164 9.85 22 Mitochondrion;Nucleus NA 0 PE1 -NX_Q9ULY5 25073 219 5.12 12 Cytosol;Membrane NA 1 PE1 -NX_Q9ULZ0 13627 132 8.45 16 Cytoplasm;Nucleus NA 0 PE2 -NX_Q9ULZ1 8569 77 11.83 X Extracellular space;Secreted NA 0 PE1 -NX_Q9ULZ2 34291 295 7.61 4 Mitochondrion;Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9ULZ3 21627 195 5.95 16 Nucleolus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleus;Mitochondrion NA 0 PE1 -NX_Q9ULZ9 66653 603 6.08 12 Cell membrane;Extracellular matrix NA 0 PE1 -NX_Q9UM00 21175 188 9.77 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum Glaucoma, primary open angle;Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome 2 PE1 -NX_Q9UM01 55991 511 5.29 14 Basolateral cell membrane Lysinuric protein intolerance 12 PE1 -NX_Q9UM07 74079 663 6.15 1 Cytoplasm;Nucleus;Cytoplasmic granule Rheumatoid arthritis 0 PE1 -NX_Q9UM11 55179 496 9.41 19 Nucleoplasm;Cytoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9UM13 21252 185 9.17 4 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q9UM19 22202 191 4.76 1 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UM21 61544 535 6.94 2 Golgi apparatus membrane;Golgi apparatus;Secreted NA 1 PE1 -NX_Q9UM22 25437 224 6.33 7 Secreted NA 0 PE1 -NX_Q9UM44 46850 414 5.77 3 Membrane NA 1 PE1 -NX_Q9UM47 243631 2321 5.18 19 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus;Cell membrane Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1;Myofibromatosis, infantile 2;Lateral meningocele syndrome 1 PE1 -NX_Q9UM54 149691 1294 8.74 6 trans-Golgi network membrane;Golgi apparatus;Clathrin-coated pit;Clathrin-coated vesicle membrane;Perinuclear region;Nucleus;Ruffle membrane Deafness, autosomal dominant, 22;Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy;Deafness, autosomal recessive, 37 0 PE1 -NX_Q9UM63 50819 463 8.85 6 Cytoplasmic vesicle;Nucleus;Golgi apparatus Transient neonatal diabetes mellitus 1 0 PE1 -NX_Q9UM73 176442 1620 6.67 2 Cell membrane Neuroblastoma 3 1 PE1 -NX_Q9UM82 58427 520 9 20 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UMD9 150419 1497 8.89 10 Basement membrane;Hemidesmosome;Cell membrane;Golgi apparatus;Membrane Epithelial recurrent erosion dystrophy;Generalized atrophic benign epidermolysis bullosa 1 PE1 -NX_Q9UMF0 97116 924 5.71 19 Membrane NA 1 PE1 -NX_Q9UMN6 293515 2715 8.59 19 Cytosol;Nucleoplasm;Nucleus Dystonia 28, childhood-onset 0 PE1 -NX_Q9UMQ3 31188 279 8.65 11 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UMQ6 84423 739 5.39 6 Acrosome NA 0 PE1 -NX_Q9UMR2 53927 479 5.96 16 Cytoplasm;Nuclear pore complex;Nucleus envelope;Nucleus membrane NA 0 PE1 -NX_Q9UMR3 49232 447 7.29 7 Nucleus Atrial septal defect 4 0 PE1 -NX_Q9UMR5 34225 302 5.87 6 Endoplasmic reticulum;Lysosome NA 0 PE1 -NX_Q9UMR7 27512 237 6.32 12 Cell membrane NA 1 PE1 -NX_Q9UMS0 28463 254 4.97 2 Nucleoplasm;Cytosol;Mitochondrion Multiple mitochondrial dysfunctions syndrome 1 0 PE1 -NX_Q9UMS4 55181 504 6.14 11 Nucleus speckle;Nucleoplasm;Cytoplasm;Lipid droplet;Nucleus;Spindle NA 0 PE1 -NX_Q9UMS5 87252 762 9.64 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q9UMS6 117514 1093 8.75 4 Cytosol;Cytoplasm;Cytoplasmic vesicle;Focal adhesion;Nucleus;Cytoskeleton;Z line NA 0 PE1 -NX_Q9UMW8 43011 372 8.05 22 Cytosol;Cytoplasm;Nucleus Pseudo-TORCH syndrome 2 0 PE1 -NX_Q9UMX0 62519 589 5.02 9 Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleoplasm;Nucleus;Autophagosome;Cell membrane NA 0 PE1 -NX_Q9UMX1 53947 484 5.16 10 Cytoplasm;Nucleus Joubert syndrome 32;Medulloblastoma 0 PE1 -NX_Q9UMX2 27413 235 6.38 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UMX3 23280 212 9.33 2 Endoplasmic reticulum membrane;trans-Golgi network membrane;Nucleus outer membrane;Cytoplasm;Early endosome membrane;Endoplasmic reticulum;Mitochondrion outer membrane;cis-Golgi network membrane;Mitochondrion inner membrane;Membrane;Mitochondrion;Nucleus;Recycling endosome membrane;Mitochondrion membrane NA 1 PE1 -NX_Q9UMX5 18856 172 5.51 1 Extracellular space;Nucleus NA 0 PE1 -NX_Q9UMX6 23420 200 4.75 6 Cell membrane Retinitis pigmentosa 48 0 PE1 -NX_Q9UMX9 58268 530 7.17 5 Melanosome membrane Albinism, oculocutaneous, 4 12 PE1 -NX_Q9UMY1 29426 257 9.68 6 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UMY4 19730 172 7.71 X Membrane NA 0 PE1 -NX_Q9UMZ2 140654 1314 4.9 17 Cytosol;Cytoplasm;trans-Golgi network membrane NA 0 PE1 -NX_Q9UMZ3 260924 2332 5.57 12 Cytosol;Membrane Deafness, autosomal dominant, 73;Deafness, autosomal recessive, 84A 1 PE1 -NX_Q9UN19 32194 280 7.66 4 Cytoplasm;Membrane NA 0 PE1 -NX_Q9UN30 37447 329 6.42 X Nucleus NA 0 PE1 -NX_Q9UN36 40798 371 5.08 14 Golgi apparatus;Cytosol;Cytoplasm;Microtubule organizing center;Nucleoplasm;Perinuclear region;Growth cone NA 0 PE1 -NX_Q9UN37 48898 437 7.64 16 Late endosome membrane;Prevacuolar compartment membrane;Midbody NA 0 PE1 -NX_Q9UN42 41598 357 4.69 X Nucleus inner membrane NA 1 PE1 -NX_Q9UN66 87639 801 4.77 5 Cell membrane NA 1 PE1 -NX_Q9UN67 87621 800 4.75 5 Cell membrane NA 1 PE1 -NX_Q9UN70 101077 934 5.07 5 Cell membrane NA 1 PE1 -NX_Q9UN71 99927 923 4.8 5 Cell membrane NA 1 PE1 -NX_Q9UN72 100865 937 5.08 5 Cell membrane NA 1 PE2 -NX_Q9UN73 102716 950 4.93 5 Cytoplasmic vesicle;Cell membrane;Secreted NA 1 PE1 -NX_Q9UN74 102293 947 4.96 5 Cytosol;Nucleoplasm;Cell membrane NA 1 PE1 -NX_Q9UN75 101652 941 5.13 5 Cytosol;Cell membrane NA 1 PE1 -NX_Q9UN76 72153 642 8.53 X Cytoplasmic vesicle;Membrane NA 12 PE1 -NX_Q9UN79 69228 622 6.26 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UN81 40056 338 9.54 unknown Stress granule;Cytoplasmic ribonucleoprotein granule;Nucleolus NA 0 PE1 -NX_Q9UN86 54121 482 5.41 4 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9UN88 72022 632 5.55 X Postsynaptic cell membrane;Cell membrane NA 3 PE1 -NX_Q9UNA0 101718 930 9.13 21 Nucleoplasm;Extracellular matrix NA 0 PE1 -NX_Q9UNA1 92235 814 6.2 5 Cytosol;Cytoskeleton;Focal adhesion Leukemia, juvenile myelomonocytic 0 PE1 -NX_Q9UNA3 39497 340 6.42 3 Golgi apparatus membrane NA 1 PE1 -NX_Q9UNA4 83006 740 5.73 18 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9UND3 40133 350 9.48 16 Nuclear pore complex;Nucleus membrane NA 0 PE2 -NX_Q9UNE0 48582 448 5.08 2 Membrane Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 1 PE1 -NX_Q9UNE2 34464 315 9.23 17 Cytoplasm;Secretory vesicle membrane NA 0 PE1 -NX_Q9UNE7 34856 303 5.61 16 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Spinocerebellar ataxia, autosomal recessive, 16 0 PE1 -NX_Q9UNF0 55739 486 5.08 22 Nucleus speckle;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Cell projection;Ruffle membrane;Early endosome;Caveola;Cytoskeleton;Recycling endosome membrane;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q9UNF1 64954 606 9.35 X Cytosol;Nucleolus;Nucleus Bartter syndrome 5, antenatal, transient 0 PE1 -NX_Q9UNG2 22724 199 7.62 1 Cell membrane NA 1 PE1 -NX_Q9UNH5 66574 594 9.21 1 Nucleoplasm;Stereocilium;Centrosome;Cytosol;Nucleus;Kinocilium;Spindle;Spindle pole Deafness, autosomal recessive 32, with or without immotile sperm 0 PE1 -NX_Q9UNH6 45303 387 5.02 1 Cytosol;Cytoplasmic vesicle membrane;Nucleolus NA 0 PE1 -NX_Q9UNH7 46649 406 5.81 14 Endosome;Golgi apparatus;Lysosome;Cytoplasm;Early endosome membrane;Cytoplasmic vesicle;Nucleus;Early endosome NA 0 PE1 -NX_Q9UNI1 27798 258 8.59 12 Secreted NA 0 PE1 -NX_Q9UNI6 37687 340 6.41 1 Cytosol;Nucleus NA 0 PE1 -NX_Q9UNK0 26907 236 4.91 17 Cytosol;Cytoskeleton;Nucleus;Golgi apparatus;Membrane NA 1 PE1 -NX_Q9UNK4 16546 145 8.6 1 Secreted NA 0 PE1 -NX_Q9UNK9 75276 670 4.72 14 Nucleoplasm NA 0 PE1 -NX_Q9UNL2 21080 185 9.61 3 Endoplasmic reticulum membrane;Cytosol NA 4 PE1 -NX_Q9UNL4 28530 249 7.53 12 Nucleus NA 0 PE1 -NX_Q9UNM6 42945 376 5.53 11 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q9UNN4 52444 478 4.58 2 Nucleus NA 0 PE1 -NX_Q9UNN5 73954 650 4.81 1 Nucleus NA 0 PE1 -NX_Q9UNN8 26671 238 6.7 20 Cytoplasm;Cell membrane;Membrane NA 1 PE1 -NX_Q9UNP4 47990 418 9.13 2 Cytoplasmic vesicle;Golgi apparatus membrane Salt and pepper developmental regression syndrome 1 PE1 -NX_Q9UNP9 33431 301 5.41 1 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9UNQ0 72314 655 8.91 4 Nucleus;Mitochondrion membrane;Cell membrane NA 6 PE1 -NX_Q9UNQ2 35236 313 10.01 5 Nucleoplasm;Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UNS1 138658 1208 5.28 12 Nucleus NA 0 PE1 -NX_Q9UNS2 47873 423 6.19 17 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UNT1 26101 228 4.75 22 Centriole;Cytoplasm;Cilium basal body NA 0 PE1 -NX_Q9UNU6 58068 501 8.78 3 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_Q9UNW1 55051 487 7.93 10 Endoplasmic reticulum lumen Thyroid cancer, non-medullary, 2 0 PE1 -NX_Q9UNW8 42499 380 8.95 14 Cell membrane NA 7 PE1 -NX_Q9UNW9 49009 492 8.24 19 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9UNX3 17256 145 10.55 5 NA NA 0 PE1 -NX_Q9UNX4 106099 943 6.2 1 Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9UNX9 47846 436 5.25 19 Nucleolus;Membrane NA 2 PE1 -NX_Q9UNY4 129588 1162 8.63 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UNY5 47688 417 6.28 17 Cytosol;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9UNZ2 40573 370 4.99 20 Cytosol;Cell membrane;Nucleoplasm;Nucleus;Golgi stack;Centrosome;Chromosome NA 0 PE1 -NX_Q9UNZ5 10577 99 11.55 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q9UP38 71158 647 8.33 7 Cell membrane NA 7 PE1 -NX_Q9UP52 88755 801 5.72 7 Cytoplasm;Cell membrane Hemochromatosis 3 1 PE1 -NX_Q9UP65 60939 541 6.46 19 Cytosol;Membrane NA 0 PE1 -NX_Q9UP79 96460 889 5.78 11 Extracellular matrix NA 0 PE1 -NX_Q9UP83 92743 839 6.15 7 Cytosol;Nucleoplasm;Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2I 0 PE1 -NX_Q9UP95 120650 1085 6.02 16 Endosome;Membrane NA 12 PE1 -NX_Q9UPA5 416469 3926 7.28 3 Cytoplasm;Cytoskeleton;Synaptic vesicle membrane;Synaptosome NA 0 PE1 -NX_Q9UPC5 43860 381 9.89 X Cytosol;Nucleus;Cell membrane NA 7 PE2 -NX_Q9UPE1 62014 567 6.83 X NA NA 0 PE1 -NX_Q9UPG8 54584 496 8.95 20 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UPI3 57241 526 5.78 14 Cell membrane Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 12 PE1 -NX_Q9UPM6 40045 363 8.77 9 Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_Q9UPM8 127287 1137 5.66 15 trans-Golgi network membrane Spastic paraplegia 51, autosomal recessive;Stuttering, familial persistent 1 0 PE1 -NX_Q9UPM9 22775 204 6.73 17 Cilium axoneme;Cilium basal body Joubert syndrome 27;Meckel syndrome 9 0 PE1 -NX_Q9UPN3 838308 7388 5.28 1 Cytoplasm;Cytoskeleton;Cell membrane;Golgi apparatus;Ruffle membrane NA 0 PE1 -NX_Q9UPN4 122149 1083 8.84 17 Acrosome;Microtubule organizing center;Centriolar satellite;Cytoskeleton;Centrosome;Cilium basal body NA 0 PE1 -NX_Q9UPN6 140519 1271 8.41 6 Nucleoplasm;Nucleus matrix;Nucleus NA 0 PE1 -NX_Q9UPN7 96724 881 4.45 19 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9UPN9 122533 1127 6.23 1 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UPP1 117864 1060 8.92 X Nucleolus;Nucleus Mental retardation, X-linked, syndromic, Siderius type 0 PE1 -NX_Q9UPP2 127621 1182 6.08 12 Cytoplasm;Postsynaptic density NA 0 PE1 -NX_Q9UPP5 155681 1409 5.83 1 Axon;Clathrin-coated vesicle;Presynaptic cell membrane NA 0 PE1 -NX_Q9UPQ0 121867 1083 6.1 4 Cytoskeleton;Stress fiber;Cell membrane NA 0 PE1 -NX_Q9UPQ3 94470 857 8.18 2 Cytoplasm NA 0 PE1 -NX_Q9UPQ4 56540 493 6.71 8 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UPQ7 119596 1066 5.68 3 Cytosol;Cytoplasm;Synapse;Nucleus NA 0 PE1 -NX_Q9UPQ8 59268 538 8.87 9 Endoplasmic reticulum membrane;Nucleolus;Nucleus;Golgi apparatus Congenital disorder of glycosylation 1M 15 PE1 -NX_Q9UPQ9 194002 1833 6.31 22 P-body NA 0 PE1 -NX_Q9UPR0 125866 1127 6.47 3 Cytoplasm NA 0 PE1 -NX_Q9UPR3 113928 1016 5.63 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UPR5 100368 921 5.02 19 Dendrite;Basolateral cell membrane;Perikaryon;Cell membrane;Dendritic spine NA 11 PE1 -NX_Q9UPR6 101330 939 8.76 19 Nucleoplasm NA 0 PE1 -NX_Q9UPS6 212803 1966 4.86 12 Nucleoplasm;Nucleus speckle;Chromosome NA 0 PE1 -NX_Q9UPS8 196411 1710 5.54 10 Cytoplasmic vesicle;Golgi apparatus Thrombocytopenia 2 0 PE1 -NX_Q9UPT5 83382 735 6.33 17 Cytosol;Cytoplasmic vesicle;Midbody ring;Cell membrane NA 0 PE1 -NX_Q9UPT6 147457 1336 5.26 16 Axon;Golgi apparatus;Cytoplasm;Cytoplasmic vesicle;Dendrite;Perinuclear region;Growth cone NA 0 PE1 -NX_Q9UPT8 140257 1303 5.87 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UPT9 59961 525 8.37 17 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9UPU3 135755 1222 6.14 10 Membrane NA 1 PE1 -NX_Q9UPU5 294365 2620 5.79 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9UPU7 109880 963 5.85 15 Cytosol NA 0 PE1 -NX_Q9UPU9 79415 718 8.61 14 Cytosol;Cytoplasm;Dendrite;Cell junction;Synaptosome NA 0 PE1 -NX_Q9UPV0 164314 1460 5.27 11 Centriole;Nucleoplasm;Nucleus;Centrosome Nephronophthisis 15 0 PE1 -NX_Q9UPV7 45192 400 5.48 9 NA NA 0 PE1 -NX_Q9UPV9 106040 953 5.59 3 Endosome;Nucleoplasm;Cytoplasm;Cell cortex;Endoplasmic reticulum;Nucleus;Early endosome;Mitochondrion;Mitochondrion membrane NA 0 PE1 -NX_Q9UPW0 68960 622 6.59 1 Nucleoplasm;Nucleus speckle;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9UPW5 138448 1226 5.78 9 Nucleolus;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Mitochondrion NA 0 PE1 -NX_Q9UPW6 82555 733 6.44 2 Nucleoplasm;Nucleus matrix Cleft palate isolated 0 PE1 -NX_Q9UPW8 193014 1703 5.21 19 Nucleus membrane;Cytosol;Cytoplasm;Cell membrane;Endoplasmic reticulum;Presynaptic cell membrane NA 0 PE1 -NX_Q9UPX0 147089 1349 6.22 11 Cytosol;Postsynaptic density;Postsynaptic cell membrane NA 1 PE1 -NX_Q9UPX6 102993 916 7.04 15 Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q9UPX8 158822 1470 6.48 11 Synapse;Apical cell membrane;Cytoplasm;Dendritic spine;Postsynaptic density;Growth cone Autism 17 0 PE1 -NX_Q9UPY3 218682 1922 5.47 14 Cytosol;Cytoplasm Rhabdomyosarcoma, embryonal, 2;Pleuropulmonary blastoma;Goiter multinodular 1, with or without Sertoli-Leydig cell tumors 0 PE1 -NX_Q9UPY5 55423 501 9.29 4 Cytoplasmic vesicle;Membrane NA 12 PE1 -NX_Q9UPY6 55293 502 6 13 Cytoskeleton NA 0 PE1 -NX_Q9UPY8 31982 281 5.33 2 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9UPZ3 127449 1129 5.35 11 Cytosol Hermansky-Pudlak syndrome 5 0 PE1 -NX_Q9UPZ6 185363 1657 7.74 7 Cell projection;Cell membrane;Secreted NA 1 PE1 -NX_Q9UPZ9 71427 632 9.79 6 Nucleolus;Cytosol;Cytoplasm;Nucleus;Cilium;Cilium basal body Juvenile myoclonic epilepsy 10;Endocrine-cerebroosteodysplasia 0 PE1 -NX_Q9UQ03 54953 480 8.53 15 Cytoskeleton;Focal adhesion;Cell membrane NA 0 PE1 -NX_Q9UQ05 111693 1017 8.87 17 Membrane NA 6 PE1 -NX_Q9UQ07 48014 419 9.64 14 Cytoplasm;Nucleus;Cilium;Endoplasmic reticulum NA 0 PE2 -NX_Q9UQ10 36382 334 6.76 19 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q9UQ13 64888 582 8.65 10 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Noonan syndrome-like disorder with loose anagen hair 1 0 PE1 -NX_Q9UQ16 97746 869 8.51 1 Cytoplasm;Cytoskeleton;Golgi apparatus NA 0 PE1 -NX_Q9UQ26 160403 1411 9.17 8 Cytosol;Synapse;Presynaptic cell membrane;Cell membrane NA 0 PE1 -NX_Q9UQ35 299615 2752 12.05 16 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9UQ49 48252 428 6.78 11 Nucleoplasm;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q9UQ52 113956 1028 5.73 3 Cell membrane NA 0 PE1 -NX_Q9UQ53 63198 548 7.72 5 Golgi apparatus membrane NA 1 PE1 -NX_Q9UQ72 37146 335 6.65 19 Secreted NA 0 PE1 -NX_Q9UQ74 47772 426 8.94 19 Secreted NA 0 PE2 -NX_Q9UQ80 43787 394 6.13 12 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q9UQ84 94103 846 8.59 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UQ88 91362 783 5.28 1 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UQ90 88235 795 8.79 16 Mitochondrion inner membrane Spastic paraplegia 7, autosomal recessive 2 PE1 -NX_Q9UQB3 132656 1225 7.78 5 Perikaryon;Golgi apparatus;Nucleoplasm;Dendrite;Nucleus;Adherens junction;Cell junction NA 0 PE1 -NX_Q9UQB8 60868 552 8.99 17 Ruffle;Cytosol;Cytoplasm;Cell membrane;Filopodium;Membrane;Cytoskeleton NA 0 PE1 -NX_Q9UQB9 35591 309 8.96 19 Nucleus;Spindle;Centromere;Chromosome Spermatogenic failure 5 0 PE1 -NX_Q9UQC2 74458 676 8.54 11 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9UQC9 103941 943 6.56 1 Basal cell membrane;Nucleus;Cell junction;Cell membrane;Secreted NA 1 PE1 -NX_Q9UQD0 225280 1980 5.95 12 Cytoplasmic vesicle;Cell membrane Seizures, benign familial infantile, 5;Epileptic encephalopathy, early infantile, 13;Cognitive impairment with or without cerebellar ataxia 24 PE1 -NX_Q9UQE7 141542 1217 6.77 10 Nucleoplasm;Centromere;Nucleus;Chromosome Cornelia de Lange syndrome 3 0 PE1 -NX_Q9UQF0 59866 538 8.8 7 Virion;Cell membrane NA 1 PE1 -NX_Q9UQF2 77524 711 4.87 11 Endoplasmic reticulum membrane;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Mitochondrion membrane Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_Q9UQG0 109665 969 9.15 3 NA NA 0 PE2 -NX_Q9UQK1 36445 317 7.15 10 NA NA 0 PE1 -NX_Q9UQL6 121978 1122 5.83 17 Cytosol;Nucleus speckle;Nucleus;Golgi apparatus;Cytoplasm NA 0 PE1 -NX_Q9UQM7 54088 478 6.61 5 Dendrite;Synapse;Dendritic spine;Postsynaptic density Mental retardation, autosomal dominant 53 0 PE1 -NX_Q9UQN3 23907 213 8.81 3 Cytosol;Cytoplasm;Late endosome membrane;Nucleus Frontotemporal dementia, chromosome 3-linked;Amyotrophic lateral sclerosis 17 0 PE1 -NX_Q9UQP3 144034 1299 5.41 1 Extracellular matrix NA 0 PE1 -NX_Q9UQQ1 80558 740 5.2 11 Cytosol;Apical cell membrane NA 1 PE1 -NX_Q9UQQ2 63225 575 6.75 12 Nucleoplasm Celiac disease 13;Diabetes mellitus, insulin-dependent 0 PE1 -NX_Q9UQR0 77257 700 8.79 X Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UQR1 88976 794 6.03 3 Nucleus;Golgi apparatus Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 PE1 -NX_Q9UQV4 44346 416 8.64 3 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Lysosome membrane NA 1 PE1 -NX_Q9WJR5 108106 959 8.99 19 NA NA 0 PE2 -NX_Q9XRX5 12913 114 9.14 1 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9Y210 106326 931 6.24 11 Cytosol;Nucleoplasm;Cell membrane Focal segmental glomerulosclerosis 2 6 PE1 -NX_Q9Y215 47766 455 8.42 3 Synapse;Cell junction;Cell membrane Myasthenic syndrome, congenital, 5 0 PE1 -NX_Q9Y216 75833 660 5.94 8 Cytoplasm NA 0 PE1 -NX_Q9Y217 71968 621 7.59 13 Cytoplasm;Nucleus envelope NA 0 PE1 -NX_Q9Y219 133367 1238 5.53 14 Cytoplasmic vesicle;Cytosol;Membrane NA 1 PE1 -NX_Q9Y221 20463 180 8.66 16 Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y222 84471 760 4.5 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y223 79275 722 6.32 9 Cytosol;Cytoplasm Nonaka myopathy;Sialuria 0 PE1 -NX_Q9Y224 28068 244 6.19 14 Cytosol;Cytoplasm;Nucleoplasm;Perinuclear region;Nucleus;Centrosome NA 0 PE1 -NX_Q9Y225 17210 148 8.88 20 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q9Y226 60862 551 7.98 3 Membrane NA 12 PE1 -NX_Q9Y227 70255 616 8.55 8 Cytoplasmic vesicle;Autophagosome membrane;Golgi apparatus membrane NA 2 PE1 -NX_Q9Y228 63626 551 8.79 1 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q9Y230 51157 463 5.49 19 Nucleoplasm;Cytoplasm;Cytosol;Nucleus matrix;Membrane;Nucleus;Centrosome NA 0 PE1 -NX_Q9Y231 42071 359 7.6 6 Nucleoplasm;Golgi stack membrane;Cytoskeleton;Cytosol NA 1 PE1 -NX_Q9Y232 66482 598 9.5 6 Nucleus speckle;Nucleus;Chromosome NA 0 PE1 -NX_Q9Y233 88412 779 6.15 6 Cytoplasm Striatal degeneration, autosomal dominant 2;Dyskinesia, limb and orofacial, infantile-onset 0 PE1 -NX_Q9Y234 42479 373 8.66 2 Mitochondrion Lipoyltransferase 1 deficiency 0 PE1 -NX_Q9Y235 25703 224 4.81 6 NA NA 0 PE1 -NX_Q9Y236 56672 505 7.05 8 Nucleolus NA 0 PE1 -NX_Q9Y237 13810 131 9.78 X Nucleolus;Cytoplasm;Mitochondrion matrix;Nucleus;Mitochondrion;Spindle NA 0 PE1 -NX_Q9Y238 195684 1755 5.92 3 Cytosol;Cytoplasm Lung cancer;Esophageal cancer 0 PE1 -NX_Q9Y239 107691 953 6.71 7 Mitochondrion;Cytoplasm;Apical cell membrane;Basolateral cell membrane;Cell membrane NA 0 PE1 -NX_Q9Y240 35695 323 5.06 19 Cytoplasm;Centrosome;Secreted NA 0 PE1 -NX_Q9Y241 10143 93 9.79 3 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane;Mitochondrion membrane NA 2 PE1 -NX_Q9Y242 37184 345 8.71 6 Nucleus NA 0 PE1 -NX_Q9Y243 55775 479 5.72 1 Cytosol;Cytoplasm;Nucleus;Membrane Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 PE1 -NX_Q9Y244 15789 141 5.01 13 Cytosol;Cytoplasm;Nucleus;Microsome membrane;Nucleus speckle Keratosis linearis with ichthyosis congenita and sclerosing keratoderma 0 PE1 -NX_Q9Y247 38709 325 8.9 6 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q9Y248 21428 185 5.29 16 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y250 66613 596 6.64 8 Synapse;Nucleolus;Cytoplasm;Cell membrane;Dendritic spine;Postsynaptic density Esophageal cancer 0 PE1 -NX_Q9Y251 61149 543 9.32 4 Nucleoplasm;Cytoplasmic vesicle;Lysosome membrane;Nucleus;Secreted NA 0 PE1 -NX_Q9Y252 78091 685 9.16 13 Axon;PML body;Nucleus;Nucleus membrane;Cytoplasm Esophageal cancer 0 PE1 -NX_Q9Y253 78413 713 8.74 6 Cytosol;Nucleoplasm;Nucleus Xeroderma pigmentosum variant type 0 PE1 -NX_Q9Y255 25181 219 9.56 5 Mitochondrion;Nucleoplasm;Mitochondrion intermembrane space NA 0 PE1 -NX_Q9Y256 35833 329 8.33 11 Endoplasmic reticulum membrane NA 7 PE1 -NX_Q9Y257 33747 313 6.05 19 Cytosol;Cytoskeleton;Cell membrane;Membrane NA 4 PE1 -NX_Q9Y258 10648 94 10.22 7 Secreted NA 0 PE1 -NX_Q9Y259 45271 395 5.35 22 Cytosol NA 0 PE1 -NX_Q9Y261 48306 457 8.82 20 Nucleoplasm;Cytoplasm;Nucleus;Cell junction NA 0 PE1 -NX_Q9Y262 66727 564 5.93 22 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y263 87157 795 5.96 9 Synapse;Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 PE1 -NX_Q9Y264 56849 503 9.1 20 Secreted NA 0 PE1 -NX_Q9Y265 50228 456 6.02 3 Nucleoplasm;Cytoplasm;Cytosol;Nucleus matrix;Membrane;Centrosome NA 0 PE1 -NX_Q9Y266 38243 331 5.27 1 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9Y267 66684 594 8.71 3 Membrane NA 12 PE2 -NX_Q9Y271 38541 337 9.43 X Cell membrane NA 7 PE1 -NX_Q9Y272 31642 281 9.15 17 Nucleoplasm;Perinuclear region;Nucleus;Cell membrane NA 0 PE1 -NX_Q9Y274 38214 331 9.13 3 Golgi apparatus membrane NA 1 PE1 -NX_Q9Y275 31223 285 5.92 13 Cell membrane;Secreted NA 1 PE1 -NX_Q9Y276 47534 419 8.63 2 Mitochondrion inner membrane Bjoernstad syndrome;GRACILE syndrome;Mitochondrial complex III deficiency, nuclear 1 1 PE1 -NX_Q9Y277 30659 283 8.84 8 Mitochondrion;Mitochondrion outer membrane NA 19 PE1 -NX_Q9Y278 41501 367 9.93 16 Golgi apparatus membrane NA 1 PE1 -NX_Q9Y279 43987 399 5.93 X Cytosol;Nucleolus;Cell membrane;Membrane NA 1 PE1 -NX_Q9Y281 18737 166 7.66 14 Nucleoplasm;Cytosol;Cytoskeleton;Nucleus matrix;Cell membrane Nemaline myopathy 7 0 PE1 -NX_Q9Y282 43222 383 5.68 20 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Nucleoplasm NA 2 PE1 -NX_Q9Y283 117826 1065 9.43 9 Cytosol;Cytoplasm;Spindle;Nucleus;Membrane;Cytoskeleton;Cilium Nephronophthisis 2 0 PE1 -NX_Q9Y284 12068 106 8.41 19 Endoplasmic reticulum;Membrane NA 2 PE1 -NX_Q9Y285 57564 508 7.31 19 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9Y286 51143 467 6.89 19 Membrane NA 1 PE1 -NX_Q9Y287 30338 266 5 13 Cytoplasmic vesicle;Golgi apparatus;Secreted;Cell membrane;Endosome membrane;Golgi apparatus membrane Cerebral amyloid angiopathy, ITM2B-related 2;Cerebral amyloid angiopathy, ITM2B-related 1;Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 1 PE1 -NX_Q9Y289 68642 635 8.61 2 Cell junction;Membrane NA 13 PE1 -NX_Q9Y291 12629 106 10.11 7 Mitochondrion NA 0 PE1 -NX_Q9Y294 22969 204 4.29 6 Nucleus NA 0 PE1 -NX_Q9Y295 40542 367 9 22 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y296 24340 219 5.84 11 Cytosol;cis-Golgi network;Endoplasmic reticulum NA 0 PE1 -NX_Q9Y297 68867 605 8.3 10 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9Y2A4 77516 671 9.3 19 Nucleus NA 0 PE1 -NX_Q9Y2A7 128790 1128 6.18 2 Cytosol;Lamellipodium membrane;Cell membrane NA 1 PE1 -NX_Q9Y2A9 42534 372 8.96 19 Golgi apparatus membrane NA 1 PE1 -NX_Q9Y2B0 20652 182 4.81 12 Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_Q9Y2B1 51146 443 8.57 12 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 1 PE1 -NX_Q9Y2B2 28531 252 8.28 17 Nucleoplasm;Endoplasmic reticulum membrane;Cytosol Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome 1 PE1 -NX_Q9Y2B4 34019 290 10.56 20 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y2B5 68956 631 7.1 16 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9Y2B9 7910 76 4.11 20 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9Y2C2 47673 406 8.88 6 Golgi apparatus membrane NA 1 PE1 -NX_Q9Y2C3 36189 310 9.03 21 Golgi apparatus membrane NA 1 PE1 -NX_Q9Y2C4 41085 368 8.45 3 Mitochondrion inner membrane NA 0 PE1 -NX_Q9Y2C5 54055 497 7.45 6 Apical cell membrane;Cell membrane NA 10 PE2 -NX_Q9Y2C9 91880 796 6.83 4 Phagosome membrane;Cell membrane;Endoplasmic reticulum;Membrane raft;Golgi apparatus NA 1 PE1 -NX_Q9Y2D0 36434 317 7.7 X Mitochondrion NA 0 PE1 -NX_Q9Y2D1 30674 282 4.9 19 Cytosol;Cytoplasm;Nucleus;Centrosome;Nucleoplasm NA 0 PE1 -NX_Q9Y2D2 35985 325 9.22 1 Golgi apparatus membrane Arthrogryposis, mental retardation, and seizures 8 PE1 -NX_Q9Y2D4 94201 811 6.03 2 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y2D5 94661 859 5.04 9 NA NA 0 PE1 -NX_Q9Y2D8 71236 614 6.03 1 Cytoplasm;Centriolar satellite;Nucleus;Adherens junction;Cell junction;Cilium basal body NA 0 PE1 -NX_Q9Y2D9 69744 606 8.92 17 Nucleus NA 0 PE1 -NX_Q9Y2E4 170767 1556 7.12 10 Nucleoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q9Y2E5 113979 1009 6.74 4 Secreted NA 0 PE1 -NX_Q9Y2E6 67258 619 9.65 11 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q9Y2E8 65422 581 6.07 20 Golgi apparatus membrane NA 11 PE1 -NX_Q9Y2F5 247891 2266 5.32 5 Nucleoplasm;Cajal body;Nucleus NA 0 PE1 -NX_Q9Y2F9 58420 522 7.42 20 Cytosol;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9Y2G0 92487 817 6.26 2 Cytosol;Cell membrane NA 0 PE1 -NX_Q9Y2G1 124397 1151 7.06 11 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 1 PE1 -NX_Q9Y2G2 48933 431 5.1 19 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9Y2G3 134190 1177 6.52 3 Cytosol;Endoplasmic reticulum;Microtubule organizing center;trans-Golgi network;Early endosome;Recycling endosome membrane NA 10 PE1 -NX_Q9Y2G4 79971 727 9.42 6 Cytoplasmic vesicle NA 0 PE1 -NX_Q9Y2G5 49976 429 6.15 21 Golgi apparatus;Endoplasmic reticulum NA 0 PE1 -NX_Q9Y2G7 61558 519 9.16 19 Cytosol;Nucleus NA 0 PE1 -NX_Q9Y2G8 90591 782 6.67 1 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q9Y2G9 150275 1366 6.09 19 NA NA 0 PE1 -NX_Q9Y2H0 108012 992 6.65 20 Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Focal adhesion;Membrane NA 0 PE1 -NX_Q9Y2H1 54003 464 6.36 12 Cytoplasm;Cytoskeleton;Membrane NA 0 PE1 -NX_Q9Y2H2 128407 1132 6.57 10 Recycling endosome;Clathrin-coated pit;Early endosome NA 0 PE1 -NX_Q9Y2H5 117128 1048 9.15 1 Cytoplasmic vesicle;Cell junction;Microtubule organizing center NA 0 PE1 -NX_Q9Y2H6 131852 1198 6.29 13 Golgi apparatus membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q9Y2H8 79142 683 9.18 9 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9Y2H9 170677 1570 8.67 19 Cytoplasmic vesicle;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9Y2I1 166629 1504 5.04 3 Cytoplasm;Recycling endosome;Cell membrane;Early endosome NA 0 PE1 -NX_Q9Y2I2 60541 539 5.84 1 Cell membrane NA 0 PE1 -NX_Q9Y2I6 156344 1382 5.01 20 Cytosol;Cytoplasm;Cytoskeleton;Centrosome NA 0 PE1 -NX_Q9Y2I7 237136 2098 6.24 2 Endosome membrane;Nucleus speckle Corneal dystrophy, fleck 0 PE1 -NX_Q9Y2I8 54665 494 6.79 10 Cytosol;Cytoplasm;Cytoskeleton;Centrosome NA 0 PE1 -NX_Q9Y2I9 102743 924 8.57 12 Cytosol;Cell membrane NA 0 PE1 -NX_Q9Y2J0 76872 694 8.62 12 Synapse;Membrane NA 0 PE1 -NX_Q9Y2J2 120678 1087 5.09 18 Cytoplasm;Cytoskeleton;Cell junction;Cell membrane NA 0 PE1 -NX_Q9Y2J4 85764 779 6.81 3 Recycling endosome;Cell junction NA 0 PE1 -NX_Q9Y2J8 75564 665 5.4 1 Cytoplasm NA 0 PE1 -NX_Q9Y2K1 82016 713 5.97 14 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9Y2K2 144851 1321 6.3 11 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9Y2K3 224619 1946 5.67 3 Nucleoplasm;Mitochondrion;Myofibril;Centrosome NA 0 PE1 -NX_Q9Y2K5 106999 976 8.99 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y2K6 102003 914 5.75 9 Cytosol;Perinuclear region;Nucleus;Centrosome;Cell membrane NA 0 PE1 -NX_Q9Y2K7 132793 1162 7.73 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y2K9 131887 1186 6.51 3 Cytoplasm;Cell membrane;Membrane NA 0 PE1 -NX_Q9Y2L1 109003 958 6.69 13 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Cytosol NA 0 PE1 -NX_Q9Y2L5 160997 1435 6.41 18 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;cis-Golgi network NA 0 PE1 -NX_Q9Y2L6 118047 1034 8.79 3 Adherens junction;Cytoskeleton;Tight junction NA 0 PE1 -NX_Q9Y2L8 96903 839 7.43 7 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9Y2L9 80875 728 5.59 13 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q9Y2M0 114225 1017 7.1 15 Nucleoplasm;Cytosol;Cytoskeleton;Nucleus Interstitial nephritis, karyomegalic 0 PE1 -NX_Q9Y2M2 39845 353 9.26 3 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y2M5 67955 609 6.45 1 Golgi apparatus;Cytosol;Axon;Dendrite;Perinuclear region;Nucleus;trans-Golgi network NA 0 PE1 -NX_Q9Y2N7 72433 669 5.67 19 Nucleus speckle;Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Mitochondrion NA 0 PE1 -NX_Q9Y2P0 59631 537 8.88 19 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9Y2P4 70112 619 8.75 5 Nucleus;Sarcolemma;Membrane NA 2 PE1 -NX_Q9Y2P5 75385 690 7.8 19 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q9Y2P7 71871 627 9.12 19 Nucleus NA 0 PE1 -NX_Q9Y2P8 40843 373 9.36 9 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q9Y2Q0 131369 1164 6.41 4 Golgi apparatus;Endoplasmic reticulum;Cytoplasmic vesicle;Cytoplasmic granule;Cell membrane;Chromaffin granule membrane NA 10 PE1 -NX_Q9Y2Q1 65779 563 9.23 19 Nucleus NA 0 PE1 -NX_Q9Y2Q3 25497 226 8.51 7 Cytoplasm;Nucleus;Peroxisome NA 0 PE1 -NX_Q9Y2Q5 13508 125 5.3 1 Cytoplasmic vesicle;Nucleoplasm;Lysosome membrane;Late endosome membrane;Cytoplasm Immunodeficiency due to defect in MAPBP-interacting protein 0 PE1 -NX_Q9Y2Q9 20843 187 9.22 8 Mitochondrion NA 0 PE1 -NX_Q9Y2R0 11731 106 9.59 17 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_Q9Y2R2 91705 807 7.5 1 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Cytoplasm Rheumatoid arthritis;Systemic lupus erythematosus;Diabetes mellitus, insulin-dependent;Vitiligo 0 PE1 -NX_Q9Y2R4 67498 599 9.69 17 Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y2R5 14502 130 9.87 7 Mitochondrion NA 0 PE1 -NX_Q9Y2R9 28134 242 10 17 Mitochondrion Combined oxidative phosphorylation deficiency 34 0 PE1 -NX_Q9Y2S2 35419 319 5.81 13 Cytoplasm;Nucleolus;Nucleus;Cell membrane;Golgi apparatus NA 0 PE1 -NX_Q9Y2S6 7066 64 10 3 Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y2S7 42033 368 8.8 17 Mitochondrion;Nucleus NA 0 PE1 -NX_Q9Y2T1 93558 843 7.82 17 Cytosol;Cytoplasm;Nucleus;Cell membrane Oligodontia-colorectal cancer syndrome;Colorectal cancer 0 PE1 -NX_Q9Y2T2 46939 418 6.47 10 Cytoplasmic vesicle membrane;Golgi apparatus NA 0 PE1 -NX_Q9Y2T3 51003 454 5.44 9 Nucleus NA 0 PE1 -NX_Q9Y2T4 51515 447 5.92 4 NA NA 0 PE1 -NX_Q9Y2T5 41354 361 8.45 1 Cell membrane NA 7 PE2 -NX_Q9Y2T6 36637 319 8.8 2 Cell membrane NA 7 PE1 -NX_Q9Y2T7 38518 364 10.8 17 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y2U2 31947 307 6.7 11 Cell membrane;Membrane NA 4 PE2 -NX_Q9Y2U5 69741 619 8.04 2 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9Y2U8 99997 911 7.32 12 Nucleus inner membrane;Nucleus membrane Buschke-Ollendorff syndrome 2 PE1 -NX_Q9Y2U9 46099 406 6.13 14 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9Y2V0 32264 281 6.15 15 Nucleoplasm Anemia, congenital dyserythropoietic, 1B 0 PE1 -NX_Q9Y2V2 15892 147 8.41 16 Cytoplasmic granule;P-body;Cytoplasm NA 0 PE1 -NX_Q9Y2V3 36676 346 9.11 18 Nucleus Microphthalmia, isolated, 3 0 PE1 -NX_Q9Y2V7 73279 657 5.51 13 Nucleus speckle;Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2L;Shaheen syndrome 0 PE1 -NX_Q9Y2W1 108666 955 10.16 1 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9Y2W2 69998 641 8.28 12 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y2W3 84541 782 8.01 1 Membrane Intellectual developmental disorder with neuropsychiatric features 12 PE1 -NX_Q9Y2W6 62046 561 4.91 1 Cytosol;Cytoplasm;Mitochondrion;Centrosome NA 0 PE1 -NX_Q9Y2W7 29231 256 5.23 2 Cell membrane;Nucleus;Endoplasmic reticulum;Golgi apparatus;Cytoplasm NA 0 PE1 -NX_Q9Y2X0 96793 877 7.12 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y2X3 59578 529 9.03 2 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y2X7 84341 761 6.33 17 Cytosol;Cytoplasm;Focal adhesion NA 0 PE1 -NX_Q9Y2X8 16649 147 6.88 7 NA NA 0 PE1 -NX_Q9Y2X9 96915 895 8.71 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y2Y0 18822 163 4.23 16 Cytoplasm;Nucleus;Mitochondrion intermembrane space;Spindle;Centrosome;Cilium basal body Retinitis pigmentosa with or without situs inversus 0 PE1 -NX_Q9Y2Y1 12336 108 8.05 16 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y2Y4 52963 487 9.36 19 Nucleus NA 0 PE1 -NX_Q9Y2Y6 24611 226 4.81 17 Nucleoplasm;Endosome;Membrane Nanophthalmos 4 1 PE1 -NX_Q9Y2Y8 25406 225 4.69 11 Cytoplasmic granule NA 0 PE1 -NX_Q9Y2Y9 31180 288 9.63 15 Nucleus NA 0 PE1 -NX_Q9Y2Z0 41024 365 5.07 13 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Cell membrane NA 0 PE1 -NX_Q9Y2Z2 79964 717 8.59 6 Mitochondrion;Nucleoplasm;Cytosol Combined oxidative phosphorylation deficiency 10 0 PE1 -NX_Q9Y2Z4 53199 477 9.07 12 Mitochondrion;Mitochondrion matrix;Nucleus Myopathy with lactic acidosis and sideroblastic anemia 2 0 PE1 -NX_Q9Y2Z9 50870 468 6.81 14 Cell projection;Mitochondrion inner membrane;Golgi apparatus Coenzyme Q10 deficiency, primary, 6 0 PE1 -NX_Q9Y303 43748 409 6.21 16 Cytosol;Nucleolus NA 0 PE1 -NX_Q9Y305 49902 439 8.81 X Mitochondrion;Nucleoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_Q9Y312 43472 384 5.66 20 Cytosol NA 0 PE1 -NX_Q9Y314 33172 301 9.05 19 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y315 35231 318 9.08 12 Cytoplasmic granule;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9Y316 33733 297 6.66 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q9Y320 34038 296 8.9 11 Nucleoplasm;Cytosol;Membrane NA 1 PE1 -NX_Q9Y324 23370 198 9.74 14 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q9Y328 19085 171 9.42 5 Golgi stack membrane;Lysosome lumen;trans-Golgi network membrane;Golgi apparatus;Early endosome membrane;Endosome membrane;Dendrite;Late endosome membrane;Multivesicular body membrane;Membrane;Cytoplasmic vesicle membrane NA 1 PE1 -NX_Q9Y330 49148 459 7.26 6 Nucleus NA 0 PE1 -NX_Q9Y333 10835 95 6.05 6 Nucleus NA 0 PE1 -NX_Q9Y334 96060 891 5.74 6 Cytosol;Cell membrane;Secreted NA 0 PE1 -NX_Q9Y336 50082 463 6.86 19 Membrane NA 1 PE1 -NX_Q9Y337 32020 293 8.64 19 Secreted NA 0 PE1 -NX_Q9Y342 19987 182 9.43 16 Membrane NA 4 PE1 -NX_Q9Y343 19818 169 6.71 5 Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q9Y345 87434 797 7.68 11 Cell membrane Hyperekplexia 3 12 PE1 -NX_Q9Y365 33049 291 6.67 11 Cytoplasm;Flagellum;Membrane NA 0 PE1 -NX_Q9Y366 49706 437 5.14 20 Cytosol;Cilium Short-rib thoracic dysplasia 16 with or without polydactyly 0 PE1 -NX_Q9Y371 40796 365 5.78 1 Autophagosome membrane;Cytosol;Cytoplasm;Mitochondrion outer membrane;Golgi apparatus membrane;Midbody NA 0 PE1 -NX_Q9Y375 37764 327 7.11 15 Mitochondrion;Cytosol NA 0 PE1 -NX_Q9Y376 39869 341 6.43 2 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q9Y383 46514 392 10.02 7 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9Y385 35199 318 6.26 6 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9Y388 37336 322 9.84 X Nucleolus;Nucleus membrane NA 0 PE1 -NX_Q9Y394 38299 339 8.59 14 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q9Y397 40916 364 8.12 X Endoplasmic reticulum membrane;Cytosol;Golgi apparatus membrane;Golgi apparatus Mental retardation, X-linked, syndromic, ZDHHC9-related 4 PE1 -NX_Q9Y399 33249 296 9.37 9 Mitochondrion Combined oxidative phosphorylation deficiency 36 0 PE1 -NX_Q9Y3A0 29657 265 9.29 9 Mitochondrion;Mitochondrion inner membrane Coenzyme Q10 deficiency, primary, 7 0 PE1 -NX_Q9Y3A2 30447 253 10.16 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y3A3 26032 225 5.5 2 Golgi stack membrane;Perinuclear region;Golgi apparatus;Membrane NA 0 PE1 -NX_Q9Y3A4 32334 280 9.61 22 NA NA 0 PE1 -NX_Q9Y3A5 28764 250 8.91 7 Nucleolus;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Spindle Shwachman-Diamond syndrome 1 0 PE1 -NX_Q9Y3A6 26005 229 4.71 1 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE1 -NX_Q9Y3B1 21495 194 6.24 20 Nucleus NA 0 PE1 -NX_Q9Y3B2 21452 195 8.51 10 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y3B3 25172 224 6.43 5 COPI-coated vesicle membrane;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;cis-Golgi network membrane NA 1 PE1 -NX_Q9Y3B4 14585 125 9.41 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y3B6 23061 208 5.53 14 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q9Y3B7 20683 192 9.91 11 Mitochondrion NA 0 PE1 -NX_Q9Y3B8 26833 237 6.4 11 Nucleolus;Cytoplasm;Mitochondrion matrix;Focal adhesion;Nucleus;Mitochondrion intermembrane space;Mitochondrion NA 0 PE1 -NX_Q9Y3B9 31484 282 5.39 1 Mitochondrion;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y3C0 21173 194 4.35 12 Cytoplasmic vesicle;Early endosome NA 0 PE1 -NX_Q9Y3C1 21188 178 9.94 5 Nucleolus NA 0 PE1 -NX_Q9Y3C4 19661 175 6.31 2 Cytosol;Nucleus Galloway-Mowat syndrome 5 0 PE1 -NX_Q9Y3C5 17444 154 4.64 1 Cytoplasm;Recycling endosome;Nucleus;Early endosome NA 0 PE1 -NX_Q9Y3C6 18237 166 7.78 6 Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y3C7 15805 131 8.72 17 Nucleus NA 0 PE1 -NX_Q9Y3C8 19458 167 6.91 1 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q9Y3D0 17663 163 5.07 16 Nucleoplasm;Cytosol;Spindle;Nucleus NA 0 PE1 -NX_Q9Y3D2 19536 182 8.95 10 Mitochondrion NA 0 PE1 -NX_Q9Y3D3 15345 137 9.59 10 Mitochondrion;Cytosol Combined oxidative phosphorylation deficiency 2 0 PE1 -NX_Q9Y3D5 15850 142 9.63 4 Mitochondrion NA 0 PE1 -NX_Q9Y3D6 16938 152 8.84 7 Mitochondrion;Peroxisome membrane;Mitochondrion outer membrane NA 1 PE1 -NX_Q9Y3D7 13825 125 9.69 16 Mitochondrion inner membrane Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 0 PE1 -NX_Q9Y3D8 20061 172 4.48 5 Nucleoplasm;Cajal body NA 0 PE1 -NX_Q9Y3D9 21771 190 8.94 17 Mitochondrion;Nucleus membrane NA 0 PE1 -NX_Q9Y3E0 15426 138 10.36 12 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus membrane;Endoplasmic reticulum NA 4 PE1 -NX_Q9Y3E1 22620 203 7.7 15 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y3E2 14289 137 7.82 1 Mitochondrion NA 0 PE1 -NX_Q9Y3E5 19194 179 8.95 17 Mitochondrion Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 0 PE1 -NX_Q9Y3E7 25073 222 5.1 2 Cytosol;Endosome;Late endosome membrane;Membrane NA 0 PE1 -NX_Q9Y3F1 6535 56 4.49 6 NA NA 0 PE5 -NX_Q9Y3F4 38438 350 4.98 12 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9Y3I0 55210 505 6.77 22 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9Y3I1 58503 522 6.11 22 Cytosol;Cytoplasm;Mitochondrion;Nucleus Parkinson disease 15 0 PE1 -NX_Q9Y3L3 75713 701 6.33 22 Phagocytic cup;Cytosol;Nucleus;Adherens junction;Cell projection;Tight junction NA 0 PE1 -NX_Q9Y3L5 20745 183 4.87 X Cytoplasm;Recycling endosome membrane NA 0 PE1 -NX_Q9Y3M2 14470 126 9.09 22 Centriole;Nucleus speckle;Golgi apparatus;trans-Golgi network;Cilium basal body NA 0 PE1 -NX_Q9Y3M8 124967 1113 6.57 13 Nucleolus;Nucleus membrane;Cytosol;Cytoplasm;Lipid droplet;Membrane;Mitochondrion membrane NA 0 PE1 -NX_Q9Y3M9 86875 751 9.74 20 Nucleus speckle;Nucleus;Cell membrane NA 0 PE1 -NX_Q9Y3N9 36101 320 9.24 6 Cell membrane NA 7 PE2 -NX_Q9Y3P4 40484 386 6.1 22 Cytoskeleton;Membrane NA 5 PE1 -NX_Q9Y3P8 21126 196 5.91 9 Cell membrane NA 1 PE1 -NX_Q9Y3P9 121737 1069 5.15 9 Cytosol;Centrosome NA 0 PE1 -NX_Q9Y3Q0 83592 740 8.56 11 Nucleus;Cell membrane NA 1 PE1 -NX_Q9Y3Q3 24777 217 5.4 15 Endoplasmic reticulum membrane;Golgi stack membrane;Golgi apparatus;COPI-coated vesicle membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE1 -NX_Q9Y3Q4 129042 1203 9.07 15 Cell membrane Sick sinus syndrome 2;Brugada syndrome 8 6 PE1 -NX_Q9Y3Q7 82856 739 7.16 8 Membrane NA 1 PE1 -NX_Q9Y3Q8 41026 395 6.69 7 Cytosol;Nucleus NA 0 PE1 -NX_Q9Y3R0 122422 1128 6.03 12 Cytoplasmic vesicle;Postsynaptic cell membrane;Endoplasmic reticulum Fraser syndrome 3 0 PE1 -NX_Q9Y3R4 42254 380 6.39 2 Cytoplasm NA 0 PE1 -NX_Q9Y3R5 258230 2298 5.9 21 Nucleoplasm;Mitochondrion;Golgi apparatus membrane NA 0 PE1 -NX_Q9Y3S1 242676 2297 5.79 9 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9Y3S2 36201 320 5.79 4 Centromere;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y3T6 49092 440 5.47 8 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9Y3T9 84919 749 5.46 1 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y3U8 12254 105 11.59 19 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q9Y3V2 30543 267 5.81 1 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y3X0 59703 531 5.32 19 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9Y3Y2 26397 248 12.24 1 Nucleoplasm;Nucleus speckle;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y3Y4 45116 419 6.38 15 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y3Z3 72201 626 6.69 20 Nucleoplasm;Nucleus;Cell membrane;Chromosome Aicardi-Goutieres syndrome 5;Chilblain lupus 2 0 PE1 -NX_Q9Y421 13178 112 9.99 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y426 75533 696 6.47 21 Nucleoplasm;Membrane NA 1 PE1 -NX_Q9Y442 17735 160 8.46 22 Membrane NA 1 PE2 -NX_Q9Y446 87082 797 9.39 11 Nucleoplasm;Cytosol;Nucleus;Cell junction;Desmosome NA 0 PE1 -NX_Q9Y448 35438 316 5.98 15 Kinetochore;Cytosol;Spindle pole;Nucleus;Spindle;Cytoskeleton NA 0 PE1 -NX_Q9Y450 75473 684 6.17 6 Cytosol;Nucleus NA 0 PE1 -NX_Q9Y458 57910 520 6.92 X Nucleus Cleft palate with or without ankyloglossia, X-linked;Abruzzo-Erickson syndrome 0 PE1 -NX_Q9Y462 86245 761 6.4 X Nucleoplasm;Nucleus Mental retardation, X-linked 97 0 PE1 -NX_Q9Y463 69198 629 9.25 19 Nucleus Abdominal obesity-metabolic syndrome 3 0 PE1 -NX_Q9Y466 42589 385 9.18 6 Nucleus NA 0 PE1 -NX_Q9Y467 105309 1007 5.89 14 Cytoplasmic vesicle;Nucleus Coloboma, ocular, autosomal recessive 0 PE1 -NX_Q9Y468 92297 840 5.65 20 Nucleus NA 0 PE1 -NX_Q9Y471 58380 501 5.96 6 Cytoplasm NA 0 PE1 -NX_Q9Y473 81609 711 8.98 19 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9Y478 30382 270 5.94 12 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9Y483 67090 593 9 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y484 39868 360 6.74 X Preautophagosomal structure;Nucleolus Neurodegeneration with brain iron accumulation 5 0 PE1 -NX_Q9Y485 337839 3027 5.91 5 Cytosol;Nucleolus NA 0 PE1 -NX_Q9Y487 98082 856 6.18 12 Cytosol;Endosome membrane;Cell membrane Cutis laxa, autosomal recessive, 2A;Wrinkly skin syndrome 8 PE1 -NX_Q9Y490 269767 2541 5.77 9 Cytosol;Cell membrane;Microtubule organizing center;Focal adhesion;Ruffle membrane;Cell surface;Cytoskeleton NA 0 PE1 -NX_Q9Y493 305630 2812 5.76 7 Cell membrane NA 1 PE1 -NX_Q9Y496 80041 699 6.16 5 Centriole;Cytosol;Cytoskeleton;Cilium;Nucleoplasm NA 0 PE1 -NX_Q9Y4A0 59912 524 8.26 11 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9Y4A5 437600 3859 8.49 7 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9Y4A8 76154 694 5.21 7 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9Y4A9 35254 318 9.07 19 Cell membrane NA 7 PE2 -NX_Q9Y4B4 162769 1467 5.75 3 Cytosol;Nucleus NA 0 PE1 -NX_Q9Y4B5 209526 1905 6.03 18 Midbody;Cytoskeleton;Apical cell membrane;Spindle pole;Lateral cell membrane NA 0 PE1 -NX_Q9Y4B6 169007 1507 4.92 3 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y4C0 180599 1643 5.33 14 Membrane NA 1 PE1 -NX_Q9Y4C1 147341 1321 8.4 2 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y4C2 102126 921 6.12 7 Cell membrane NA 0 PE1 -NX_Q9Y4C4 116950 1052 8.02 8 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9Y4C5 57857 530 10 3 trans-Golgi network membrane;Golgi apparatus NA 1 PE1 -NX_Q9Y4C8 107332 960 6.13 12 Nucleoplasm;Cytoplasm;Nucleolus;Chromosome NA 0 PE1 -NX_Q9Y4D1 123473 1078 6.81 14 Cytosol;Cytoplasm;Cell membrane;Cilium basal body NA 0 PE1 -NX_Q9Y4D2 114952 1042 5.95 11 Cell membrane Spinocerebellar ataxia 20 4 PE1 -NX_Q9Y4D7 212007 1925 6.8 3 Lamellipodium membrane;Cell membrane NA 1 PE1 -NX_Q9Y4D8 439344 3996 5.82 12 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 1 PE1 -NX_Q9Y4E1 144911 1320 4.66 10 Early endosome membrane;Cell membrane NA 0 PE1 -NX_Q9Y4E5 121484 1061 6.3 6 Nucleoplasm;PML body;Nucleus NA 0 PE1 -NX_Q9Y4E6 163810 1490 6.47 18 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9Y4E8 112419 981 5.06 12 Cytosol;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q9Y4F1 118633 1045 8.33 13 Synaptosome;Synapse;Dendritic spine;Cytosol;Cell membrane;Dendrite;Filopodium NA 0 PE1 -NX_Q9Y4F3 192859 1742 8.14 16 Cytoplasmic vesicle;Golgi apparatus;Peroxisome NA 0 PE1 -NX_Q9Y4F4 189360 1720 8.73 14 Nucleoplasm;Cytoskeleton;Cilium NA 0 PE1 -NX_Q9Y4F5 171688 1589 6.39 14 Cytosol;Cytoskeleton;Centrosome NA 0 PE1 -NX_Q9Y4F9 118519 1068 5.29 6 Apical cell membrane;Cytoplasm;Stereocilium;Filopodium;Cytoskeleton;Stereocilium membrane Deafness, autosomal recessive, 104 0 PE1 -NX_Q9Y4G2 117443 1056 6.08 17 Endosome membrane;Lysosome membrane;Lysosome;Cytoplasm;Cytoplasmic vesicle;Nucleolus Osteopetrosis, autosomal recessive 6;Osteopetrosis, autosomal dominant 3 0 PE1 -NX_Q9Y4G6 271613 2542 5.4 15 Synapse;Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Cytoskeleton NA 0 PE1 -NX_Q9Y4G8 167417 1499 6.21 4 Late endosome;Nucleoplasm;Cytoplasm;Cell membrane;Cell junction;Cytoplasmic vesicle;Perinuclear region;Centrosome NA 0 PE1 -NX_Q9Y4H2 137334 1338 8.9 13 Cytosol NA 0 PE1 -NX_Q9Y4H4 17866 160 4.95 6 Cytoplasm NA 0 PE1 -NX_Q9Y4I1 215405 1855 8.7 15 Focal adhesion;Microtubule organizing center Elejalde syndrome;Griscelli syndrome 1;Griscelli syndrome 3 0 PE1 -NX_Q9Y4I5 55025 508 5.5 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y4J8 83901 743 6.43 18 Synapse;Nucleoplasm;Cytoplasm;Cell membrane;Cytoskeleton;Cell junction Left ventricular non-compaction 1 0 PE1 -NX_Q9Y4K0 86725 774 5.95 8 Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Basement membrane;Nucleus;Chromosome NA 0 PE1 -NX_Q9Y4K1 188676 1723 5.61 6 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9Y4K3 59573 522 6 11 Nucleolus;Cytoplasm;Lipid droplet;Cell cortex;Nucleus;Mitochondrion NA 0 PE1 -NX_Q9Y4K4 95024 846 7.97 14 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9Y4L1 111335 999 5.16 11 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q9Y4L5 33703 304 5.39 1 Mitochondrion;Cytosol;Nucleolus NA 0 PE1 -NX_Q9Y4M8 16018 146 11.24 8 NA NA 0 PE5 -NX_Q9Y4P1 44294 393 4.91 2 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9Y4P3 49798 447 9.52 7 Cytosol NA 0 PE1 -NX_Q9Y4P8 49408 454 6.04 7 Nucleoplasm;Cytoplasm;Preautophagosomal structure membrane;Cytosol NA 0 PE1 -NX_Q9Y4P9 26987 236 9.7 20 Cytoplasm;Cytoskeleton;Flagellum;Cilium axoneme NA 0 PE1 -NX_Q9Y4R7 87414 772 8.73 3 Cytoskeleton;Cilium;Cilium axoneme NA 0 PE1 -NX_Q9Y4R8 91747 837 5.54 16 Cytosol;Cytoplasm;Telomere;Nucleus;Membrane You-Hoover-Fong syndrome 0 PE1 -NX_Q9Y4U1 31728 282 7.69 1 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm Methylmalonic aciduria and homocystinuria, cblC type 0 PE1 -NX_Q9Y4W2 83065 734 4.64 X Cytosol;Nucleoplasm;Cytoplasm;Nucleolus;Microtubule organizing center Wilson-Turner X-linked mental retardation syndrome 0 PE1 -NX_Q9Y4W6 88584 797 8.81 18 Mitochondrion;Mitochondrion inner membrane Spinocerebellar ataxia 28;Spastic ataxia 5, autosomal recessive 2 PE1 -NX_Q9Y4X0 35463 333 8.96 X Nucleus Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis;Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 PE1 -NX_Q9Y4X1 59926 527 9.07 4 Membrane NA 1 PE1 -NX_Q9Y4X3 12618 112 8.95 9 Secreted NA 0 PE1 -NX_Q9Y4X4 44240 402 9.74 13 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9Y4X5 64118 557 4.97 15 Cajal body;Nucleus;Golgi apparatus;Cytoplasm NA 0 PE1 -NX_Q9Y4Y9 9937 91 4.42 7 Nucleus NA 0 PE1 -NX_Q9Y4Z0 15350 139 10.02 19 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9Y4Z2 23077 214 9.61 10 Nucleus Diarrhea 4, malabsorptive, congenital 0 PE1 -NX_Q9Y508 25694 228 6.99 20 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9Y512 51976 469 6.44 22 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA 0 PE1 -NX_Q9Y519 45562 407 6.45 22 Nucleoplasm;Cytosol;Golgi apparatus;Membrane NA 7 PE1 -NX_Q9Y520 316911 2896 9.17 1 Cytosol NA 0 PE1 -NX_Q9Y530 17025 152 8.55 6 Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y534 16786 153 7.02 22 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9Y535 22918 204 4.47 22 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Centrosome NA 0 PE1 -NX_Q9Y536 18182 164 9.32 1 Cytoplasm NA 0 PE1 -NX_Q9Y543 18470 173 9.88 1 Nucleus NA 0 PE2 -NX_Q9Y546 48571 428 7.2 1 Nucleoplasm NA 0 PE1 -NX_Q9Y547 16297 144 4.93 1 Cytosol;Nucleoplasm;Cilium NA 0 PE1 -NX_Q9Y548 34277 306 5.13 1 Nucleoplasm;cis-Golgi network membrane;Late endosome membrane;trans-Golgi network membrane;Endoplasmic reticulum NA 5 PE1 -NX_Q9Y561 94984 859 5.07 8 Mitochondrion;Coated pit;Nucleolus;Cell membrane;Membrane NA 1 PE1 -NX_Q9Y566 224959 2161 8.29 19 Cytoplasm;Synapse;Cell membrane;Postsynaptic density NA 0 PE1 -NX_Q9Y570 42315 386 5.67 11 Nucleus NA 0 PE1 -NX_Q9Y572 56887 518 6.08 14 Cytosol;Mitochondrion;Cell membrane NA 0 PE1 -NX_Q9Y573 65261 584 5.49 1 Cytoskeleton NA 0 PE1 -NX_Q9Y574 48195 426 7.57 7 NA NA 0 PE1 -NX_Q9Y575 57745 518 5.84 2 NA NA 0 PE1 -NX_Q9Y576 37014 335 8.55 2 Nucleoplasm NA 0 PE1 -NX_Q9Y577 54418 477 6.62 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q9Y580 30504 266 9.56 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y581 24860 213 9.71 9 Secreted NA 0 PE1 -NX_Q9Y584 20031 194 7.51 17 Mitochondrion inner membrane NA 3 PE1 -NX_Q9Y585 34396 309 8.81 17 Cell membrane NA 7 PE2 -NX_Q9Y586 40923 359 8.87 4 Cytoplasm;Nucleus Microphthalmia/coloboma and skeletal dysplasia syndrome 0 PE1 -NX_Q9Y587 17005 144 5.08 14 Cytoplasmic vesicle;trans-Golgi network membrane Spastic paraplegia 52, autosomal recessive 0 PE1 -NX_Q9Y592 82940 701 5.9 12 Centriole;Nucleus;Golgi apparatus Nephronophthisis 18 0 PE1 -NX_Q9Y597 88984 815 6.58 1 Cytosol;Cell membrane NA 0 PE1 -NX_Q9Y5A6 53658 473 7.81 7 Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q9Y5A7 70538 615 5.71 7 Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y5A9 62334 579 8.87 1 Cytosol;Cytoplasm;P-body;Nucleus NA 0 PE1 -NX_Q9Y5B0 104399 961 5.17 18 Nucleoplasm;Spindle pole;Midbody;Cytoplasmic vesicle;Nucleus;Centrosome Congenital cataracts, facial dysmorphism, and neuropathy 0 PE1 -NX_Q9Y5B6 104804 917 5.52 21 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y5B8 42492 376 6.03 1 Mitochondrion NA 0 PE1 -NX_Q9Y5B9 119914 1047 5.5 14 Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_Q9Y5C1 53637 460 6.24 1 Lamellipodium;Secreted Hypobetalipoproteinemia, familial, 2 0 PE1 -NX_Q9Y5E1 87099 797 4.88 5 Cell membrane NA 1 PE2 -NX_Q9Y5E2 86707 793 4.9 5 Cell membrane NA 1 PE1 -NX_Q9Y5E3 87350 794 4.89 5 Cytosol;Nucleus;Cell membrane NA 1 PE1 -NX_Q9Y5E4 86423 795 4.87 5 Cell membrane NA 1 PE1 -NX_Q9Y5E5 87270 795 5.05 5 Cytosol;Cytoskeleton;Cell membrane NA 1 PE2 -NX_Q9Y5E6 86773 796 4.88 5 Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_Q9Y5E7 87254 798 4.76 5 Nucleoplasm;Cell membrane NA 1 PE1 -NX_Q9Y5E8 86329 787 4.74 5 Mitochondrion;Cell membrane NA 1 PE1 -NX_Q9Y5E9 87548 798 4.81 5 Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_Q9Y5F0 87552 798 4.81 5 Cell membrane NA 1 PE1 -NX_Q9Y5F1 86770 795 4.72 5 Cell membrane NA 1 PE2 -NX_Q9Y5F2 87088 797 4.74 5 Cell membrane NA 1 PE1 -NX_Q9Y5F3 90491 818 5.2 5 Cell membrane NA 1 PE2 -NX_Q9Y5F6 101921 944 4.85 5 Cell membrane NA 1 PE1 -NX_Q9Y5F7 101214 938 5.16 5 Cell membrane NA 1 PE1 -NX_Q9Y5F8 100974 929 4.94 5 Cell membrane NA 1 PE1 -NX_Q9Y5F9 101043 930 5.09 5 Cell membrane NA 1 PE2 -NX_Q9Y5G0 99875 923 4.92 5 Cell membrane NA 1 PE1 -NX_Q9Y5G1 101204 929 4.87 5 Cell membrane NA 1 PE1 -NX_Q9Y5G2 100875 931 4.89 5 Cell membrane NA 1 PE1 -NX_Q9Y5G3 100360 927 4.92 5 Cell membrane NA 1 PE2 -NX_Q9Y5G4 101687 932 4.91 5 Cell membrane NA 1 PE1 -NX_Q9Y5G5 101480 932 5.1 5 Cell membrane NA 1 PE2 -NX_Q9Y5G6 101722 932 4.73 5 Cell membrane NA 1 PE1 -NX_Q9Y5G7 100871 932 4.75 5 Cell membrane NA 1 PE1 -NX_Q9Y5G8 100935 931 4.71 5 Cell membrane NA 1 PE2 -NX_Q9Y5G9 103968 962 4.79 5 Cell membrane NA 1 PE1 -NX_Q9Y5H0 100971 932 4.86 5 Cell membrane NA 1 PE1 -NX_Q9Y5H1 101484 932 4.85 5 Cell membrane NA 1 PE1 -NX_Q9Y5H2 101543 935 4.81 5 Cell membrane NA 1 PE1 -NX_Q9Y5H3 101447 936 4.78 5 Cell membrane NA 1 PE1 -NX_Q9Y5H4 101226 931 4.87 5 Cell membrane NA 1 PE2 -NX_Q9Y5H5 102402 950 4.94 5 Cell membrane NA 1 PE2 -NX_Q9Y5H6 103051 950 5.13 5 Cell membrane NA 1 PE2 -NX_Q9Y5H7 102048 936 5.28 5 Cell membrane NA 1 PE1 -NX_Q9Y5H8 102428 950 4.95 5 Cell membrane NA 1 PE2 -NX_Q9Y5H9 102063 948 5.08 5 Cell membrane NA 1 PE1 -NX_Q9Y5I0 102483 950 5.08 5 Cell membrane NA 1 PE2 -NX_Q9Y5I1 103298 949 5.22 5 Cytosol;Cytoplasmic vesicle;Cell junction;Cell membrane NA 1 PE2 -NX_Q9Y5I2 102875 948 5.04 5 Cell membrane;Secreted NA 1 PE1 -NX_Q9Y5I3 102952 950 5.03 5 Cell membrane;Secreted NA 1 PE2 -NX_Q9Y5I4 109450 1007 5.26 5 Nucleoplasm;Mitochondrion;Cell membrane NA 1 PE1 -NX_Q9Y5I7 33836 305 8.26 3 Tight junction;Cell membrane Hypomagnesemia 3 4 PE1 -NX_Q9Y5J1 62004 556 8.93 17 Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9Y5J3 32613 304 8.99 8 Nucleoplasm;Cytosol;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9Y5J5 13891 127 9.72 1 Cytoplasm;Membrane NA 0 PE1 -NX_Q9Y5J6 11586 103 6.95 11 Mitochondrion inner membrane NA 0 PE1 -NX_Q9Y5J7 10378 89 6.71 14 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_Q9Y5J9 9344 83 5.02 11 Mitochondrion inner membrane NA 0 PE1 -NX_Q9Y5K1 44537 396 9.05 20 Nucleus NA 0 PE2 -NX_Q9Y5K2 27032 254 4.8 19 Secreted Amelogenesis imperfecta, hypomaturation type, 2A1 0 PE1 -NX_Q9Y5K3 41940 369 5.99 X Endoplasmic reticulum NA 0 PE1 -NX_Q9Y5K5 37607 329 5.23 1 Mitochondrion;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9Y5K6 71451 639 6.07 6 Ruffle;Cytosol;Cytoplasm;Cell membrane;Cytoskeleton;Cell junction Focal segmental glomerulosclerosis 3 0 PE1 -NX_Q9Y5K8 28263 247 9.36 14 Nucleoplasm;Membrane NA 0 PE1 -NX_Q9Y5L0 104203 923 5.35 7 Cytoplasmic vesicle;Cytoplasm;Nucleus Limb-girdle muscular dystrophy 1F 0 PE1 -NX_Q9Y5L2 6950 63 6.71 7 Nucleoplasm;Membrane;Lipid droplet;Secreted NA 1 PE1 -NX_Q9Y5L3 53665 495 8.58 9 Endoplasmic reticulum membrane;Cell membrane NA 2 PE1 -NX_Q9Y5L4 10500 95 8.42 19 Mitochondrion;Nucleolus;Mitochondrion inner membrane NA 0 PE1 -NX_Q9Y5L5 6908 61 8.61 1 NA NA 0 PE2 -NX_Q9Y5M1 11973 114 7.75 17 NA NA 0 PE5 -NX_Q9Y5M6 5321 44 9.78 1 NA NA 0 PE2 -NX_Q9Y5M8 29702 271 9.17 3 Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 -NX_Q9Y5N1 48671 445 9.43 20 Cell membrane NA 7 PE1 -NX_Q9Y5N5 22957 214 5.02 21 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q9Y5N6 28107 252 8.91 16 Nucleolus;Nucleus Meier-Gorlin syndrome 3 0 PE1 -NX_Q9Y5P0 34912 310 8.35 11 Cell membrane NA 7 PE2 -NX_Q9Y5P1 35373 312 8.94 11 Cell membrane NA 7 PE2 -NX_Q9Y5P2 14430 127 10.33 X NA NA 0 PE2 -NX_Q9Y5P3 57180 530 5.14 X Cell membrane NA 0 PE1 -NX_Q9Y5P4 70835 624 5.29 5 Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Golgi apparatus Mental retardation, autosomal dominant 34 0 PE1 -NX_Q9Y5P6 39834 360 6.16 3 Cytoplasm;Nucleus Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14;Muscular dystrophy-dystroglycanopathy limb-girdle C14;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 0 PE1 -NX_Q9Y5P8 65061 575 5.01 X Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q9Y5Q0 51145 445 7.42 11 Endoplasmic reticulum membrane;Nucleolus NA 4 PE1 -NX_Q9Y5Q3 35792 323 7.17 20 Cytosol;Nucleolus;Nucleus;Golgi apparatus Duane retraction syndrome 3 with or without deafness;Multicentric carpotarsal osteolysis syndrome 0 PE1 -NX_Q9Y5Q5 116486 1042 4.87 4 Cytoskeleton;Nucleus;Cell membrane;Secreted Pre-eclampsia/eclampsia 5 1 PE1 -NX_Q9Y5Q6 15333 135 6.81 1 Secreted NA 0 PE1 -NX_Q9Y5Q8 59571 519 6.47 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y5Q9 101272 886 4.98 2 Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9Y5R2 73231 645 9.3 20 Nucleolus;trans-Golgi network membrane;Cell membrane;Extracellular matrix NA 1 PE1 -NX_Q9Y5R4 38231 338 6.22 3 Mitochondrion NA 0 PE1 -NX_Q9Y5R5 61814 561 6.37 9 Nucleus NA 0 PE2 -NX_Q9Y5R6 39473 373 7.54 9 Nucleus 46,XY sex reversal 4;Testicular germ cell tumor 0 PE1 -NX_Q9Y5R8 16832 145 9.23 17 cis-Golgi network;Endoplasmic reticulum NA 0 PE1 -NX_Q9Y5S1 85981 764 5.56 17 Cytoplasm;Melanosome;Cell membrane NA 6 PE1 -NX_Q9Y5S2 194315 1711 5.97 14 Cytoplasm;Cell junction;Cell membrane;Lamellipodium NA 0 PE1 -NX_Q9Y5S8 64871 564 8.79 X Invadopodium membrane;Cell membrane NA 6 PE1 -NX_Q9Y5S9 19889 174 5.5 1 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9Y5T4 16383 150 10.08 13 Mitochondrion inner membrane NA 1 PE1 -NX_Q9Y5T5 93570 823 6.5 21 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y5U2 34326 329 5.07 11 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9Y5U4 24778 225 8.16 2 Endoplasmic reticulum membrane NA 5 PE1 -NX_Q9Y5U5 26000 241 5.97 1 Cell membrane;Secreted NA 1 PE1 -NX_Q9Y5U8 12347 109 9.67 6 Mitochondrion;Mitochondrion inner membrane Mitochondrial pyruvate carrier deficiency 2 PE1 -NX_Q9Y5U9 8969 82 7.96 18 Endoplasmic reticulum membrane;Endoplasmic reticulum Microcephaly, epilepsy, and diabetes syndrome 2 PE1 -NX_Q9Y5V0 8498 76 10.02 8 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9Y5V3 86161 778 5.64 X Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9Y5W3 37420 355 9.06 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y5W5 41528 379 7.84 12 Secreted NA 0 PE1 -NX_Q9Y5W7 110182 946 6.28 6 Cytosol;Dendrite;Late endosome membrane;Lysosome membrane Spinocerebellar ataxia, autosomal recessive, 20 2 PE1 -NX_Q9Y5W8 112189 968 6.15 7 Early endosome membrane NA 0 PE1 -NX_Q9Y5W9 30433 270 6.61 17 Cytosol;Endosome;Membrane NA 0 PE1 -NX_Q9Y5X0 23598 201 5.5 7 Nucleolus;Cytoplasm;Endosome membrane;Nucleus;Cytoskeleton;Centrosome Osteopetrosis, autosomal recessive 8 0 PE1 -NX_Q9Y5X1 66592 595 5.4 6 Ruffle;Cytosol;Cytoplasm;Cell membrane;trans-Golgi network;Cytoplasmic vesicle membrane;Clathrin-coated vesicle NA 0 PE1 -NX_Q9Y5X2 52569 465 6.96 7 Cytoplasmic vesicle;Early endosome membrane NA 0 PE1 -NX_Q9Y5X3 46816 404 6.31 20 Endosome;Phagocytic cup;Ruffle;Cytoplasm;Early endosome membrane;Cell membrane;Early endosome;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q9Y5X4 44692 410 8.17 15 Nucleus Retinitis pigmentosa 37;Enhanced S cone syndrome 0 PE1 -NX_Q9Y5X5 60270 522 9.43 4 Cytoskeleton;Cell membrane NA 7 PE1 -NX_Q9Y5X9 56795 500 8.13 18 Secreted NA 0 PE1 -NX_Q9Y5Y0 59863 555 5.72 1 Cell membrane;Mitochondrion membrane;Cell junction Posterior column ataxia with retinitis pigmentosa 12 PE1 -NX_Q9Y5Y2 28825 271 5.55 16 Cytosol;Cytoplasm;Microtubule organizing center;Centriole;Nucleus;Cilium axoneme;Centrosome NA 0 PE1 -NX_Q9Y5Y3 41967 372 9.45 2 Cell membrane NA 7 PE2 -NX_Q9Y5Y4 43268 395 10.52 11 Cell membrane NA 7 PE1 -NX_Q9Y5Y5 38629 336 9.85 11 Peroxisome membrane Peroxisome biogenesis disorder 8B;Peroxisome biogenesis disorder 8A;Peroxisome biogenesis disorder complementation group 9 2 PE1 -NX_Q9Y5Y6 94770 855 6.11 11 Cytoplasmic vesicle;Nucleoplasm;Membrane Ichthyosis, congenital, autosomal recessive 11 1 PE1 -NX_Q9Y5Y7 35213 322 8.59 11 Membrane NA 1 PE1 -NX_Q9Y5Y9 220626 1956 5.67 3 Cell membrane Episodic pain syndrome, familial, 2 24 PE1 -NX_Q9Y5Z0 56180 518 5.05 21 Cell membrane;Endosome;Endoplasmic reticulum;Golgi apparatus NA 1 PE1 -NX_Q9Y5Z4 22875 205 4.58 6 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q9Y5Z6 37993 326 9.38 2 Golgi apparatus membrane NA 1 PE1 -NX_Q9Y5Z7 86779 792 8.75 12 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9Y5Z9 36831 338 8.4 1 Endoplasmic reticulum membrane;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus membrane;Nucleus;Mitochondrion membrane Corneal dystrophy, Schnyder type 8 PE1 -NX_Q9Y600 55023 493 6.06 12 NA NA 0 PE1 -NX_Q9Y603 38998 341 8.27 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y605 14650 127 4.69 4 Perinuclear region;Nucleus NA 0 PE1 -NX_Q9Y606 47470 427 8.69 12 Mitochondrion;Nucleus Myopathy with lactic acidosis and sideroblastic anemia 1 0 PE1 -NX_Q9Y608 82171 721 6.5 3 Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9Y613 126551 1164 6.01 16 Cytosol;Cytoplasm;Cytoskeleton;Bleb NA 0 PE1 -NX_Q9Y614 45234 415 5.32 9 Cytoskeleton NA 0 PE1 -NX_Q9Y615 48644 435 6.64 9 Cytoplasm;Cytoskeleton;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9Y616 67767 596 6.25 12 Cytoplasmic vesicle Asthma-related traits 5 0 PE1 -NX_Q9Y617 40423 370 7.56 9 Cytosol Neu-Laxova syndrome 2;Phosphoserine aminotransferase deficiency 0 PE1 -NX_Q9Y618 273657 2514 7.21 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y619 32736 301 9.28 13 Mitochondrion inner membrane Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 6 PE1 -NX_Q9Y620 102967 910 8.44 8 Nucleus NA 0 PE1 -NX_Q9Y623 223071 1939 5.65 17 Myofibril NA 0 PE1 -NX_Q9Y624 32583 299 8.09 1 Tight junction;Cytoskeleton;Cell junction;Cell membrane NA 1 PE1 -NX_Q9Y625 62736 555 5.29 13 Cytoplasmic vesicle;Extracellular space;Cell membrane;Golgi apparatus Omodysplasia 1 0 PE1 -NX_Q9Y639 44387 398 8.11 15 Mitochondrion;Cytoskeleton;Cell membrane NA 1 PE1 -NX_Q9Y644 36424 331 9.3 17 Golgi apparatus membrane;Nucleus NA 1 PE1 -NX_Q9Y646 51888 472 5.79 8 Cytoplasmic vesicle;Secreted;Endoplasmic reticulum;Golgi apparatus;Lysosome NA 0 PE1 -NX_Q9Y651 28580 276 9.74 13 Nucleus NA 0 PE1 -NX_Q9Y653 77738 693 8.79 16 Membrane raft;Cell membrane;Secreted Polymicrogyria, bilateral frontoparietal;Polymicrogyria, bilateral perisylvian, autosomal recessive 7 PE1 -NX_Q9Y657 29601 262 6.46 9 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y661 49799 456 8.82 16 Golgi apparatus membrane NA 1 PE2 -NX_Q9Y662 43324 390 9.67 17 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 -NX_Q9Y663 44900 406 9.54 17 Cytoskeleton;Golgi apparatus membrane NA 1 PE1 -NX_Q9Y664 48080 436 5.12 19 Lysosome membrane;Nucleoplasm;Stereocilium;Cell membrane;Cytosol;Lamellipodium Mental retardation, autosomal recessive 41 0 PE1 -NX_Q9Y666 119106 1083 6.28 5 Cytosol;Cell membrane NA 12 PE1 -NX_Q9Y672 58121 507 8.8 1 Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1C 11 PE1 -NX_Q9Y673 36946 324 9.34 13 Endoplasmic reticulum membrane;Cytosol NA 1 PE1 -NX_Q9Y675 8412 71 10.58 15 Nucleus NA 0 PE1 -NX_Q9Y676 29396 258 9.47 6 Mitochondrion;Cytoplasm;Cell junction NA 0 PE1 -NX_Q9Y678 97718 874 5.32 3 Nucleoplasm;Golgi apparatus;COPI-coated vesicle membrane;Cytoplasm;Cytosol;Golgi apparatus membrane NA 0 PE1 -NX_Q9Y679 45787 410 8.96 2 Nucleoplasm;Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9Y680 25794 222 5.92 2 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 -NX_Q9Y689 20728 179 6.3 2 NA NA 0 PE1 -NX_Q9Y691 27130 235 8.71 3 Membrane NA 2 PE1 -NX_Q9Y692 62591 573 4.76 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y693 21598 200 7.87 13 Nucleolus;Membrane NA 3 PE1 -NX_Q9Y694 60026 548 6.57 6 Basolateral cell membrane NA 12 PE1 -NX_Q9Y696 28772 253 5.45 1 Cytosol;Cytoplasm;Cell membrane;Centrosome;Nucleus;Mitochondrion;Nucleus matrix;Cytoplasmic vesicle membrane;Cell junction NA 1 PE1 -NX_Q9Y697 50196 457 8.54 20 Mitochondrion;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9Y698 35966 323 9.13 22 Synaptosome;Membrane Mental retardation, autosomal dominant 10 4 PE1 -NX_Q9Y6A1 84881 747 8.69 9 Endoplasmic reticulum membrane;Golgi apparatus Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1;Muscular dystrophy-dystroglycanopathy limb-girdle C1;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 12 PE1 -NX_Q9Y6A2 56821 500 9.15 14 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_Q9Y6A4 22774 193 9.78 16 Centriole;Nucleus;Cilium;Cilium basal body NA 0 PE1 -NX_Q9Y6A5 90360 838 4.97 4 Cytosol;Cytoplasm;Spindle pole;Microtubule organizing center;Cytoplasmic vesicle;Spindle;Centrosome NA 0 PE1 -NX_Q9Y6A9 11805 102 9.34 3 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum;Cell membrane NA 2 PE1 -NX_Q9Y6B2 20876 187 3.89 15 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y6B6 22410 198 5.76 5 Endoplasmic reticulum membrane;Golgi stack membrane Chylomicron retention disease 0 PE1 -NX_Q9Y6B7 83260 739 5.59 1 Cytoplasmic vesicle;trans-Golgi network membrane Spastic paraplegia 47, autosomal recessive 0 PE1 -NX_Q9Y6C2 106695 1016 5.1 2 Extracellular matrix NA 0 PE1 -NX_Q9Y6C5 130544 1203 6 1 Membrane Medulloblastoma;Basal cell carcinoma 12 PE2 -NX_Q9Y6C7 11024 94 10.19 3 NA NA 0 PE5 -NX_Q9Y6C9 33331 303 8.25 11 Mitochondrion;Mitochondrion inner membrane NA 3 PE1 -NX_Q9Y6D0 10645 94 10.86 3 Endoplasmic reticulum membrane;Cytosol;Cell membrane;Nucleoplasm NA 1 PE1 -NX_Q9Y6D5 202038 1785 5.93 20 Synapse;Golgi apparatus;Cytoplasm;Endosome;Cytoplasmic vesicle;Dendrite;Perinuclear region;trans-Golgi network;Membrane;Cytoskeleton;Centrosome Periventricular nodular heterotopia 2 0 PE1 -NX_Q9Y6D6 208767 1849 5.58 8 Nucleolus;Golgi apparatus;Cytosol;Cytoplasm;Nucleoplasm;Perinuclear region;Nucleus;trans-Golgi network;Membrane;Nucleus matrix NA 0 PE1 -NX_Q9Y6D9 83067 718 5.72 7 Kinetochore;Nucleus membrane;Nucleoplasm;Nucleus envelope;Spindle pole;Nucleus;Spindle;Centrosome NA 0 PE1 -NX_Q9Y6E0 49308 443 5.49 13 Cytosol;Cytoplasm;Nucleolus;Nucleus;Membrane NA 0 PE1 -NX_Q9Y6E2 48162 419 6.26 7 Cytosol;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9Y6E7 35188 314 9.04 12 Mitochondrion matrix NA 0 PE1 -NX_Q9Y6F1 60089 533 6.34 3 Centriole;Nucleus;Centrosome NA 0 PE1 -NX_Q9Y6F6 97930 904 5.48 11 Cytosol;Perinuclear region;Sarcoplasmic reticulum;Nucleus;Membrane NA 1 PE1 -NX_Q9Y6F7 60524 541 9.14 Y Nucleus NA 0 PE1 -NX_Q9Y6F8 60473 540 9.21 Y Nucleus NA 0 PE1 -NX_Q9Y6F9 39721 365 9.22 2 Extracellular matrix NA 0 PE1 -NX_Q9Y6G1 10712 99 10.55 6 Endoplasmic reticulum membrane;Nucleoplasm;Endoplasmic reticulum;Mitochondrion membrane NA 3 PE1 -NX_Q9Y6G3 16661 142 8.58 12 Mitochondrion;Cell membrane NA 0 PE1 -NX_Q9Y6G5 22966 202 6.09 5 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9Y6G9 56579 523 6.01 3 Cytosol;Cytoplasm;Kinetochore;Spindle pole;Centrosome NA 0 PE1 -NX_Q9Y6H1 15513 151 9.43 7 Mitochondrion;Nucleus;Mitochondrion intermembrane space Parkinson disease 22 0 PE1 -NX_Q9Y6H3 28081 246 8.3 12 Cytosol;Cytoplasmic vesicle;Cell junction;Cell membrane NA 0 PE1 -NX_Q9Y6H5 100409 919 5.96 5 Nucleoplasm;Cytosol;Cytoplasm Parkinson disease 0 PE1 -NX_Q9Y6H6 11710 103 8.82 11 Cytoplasm;Perikaryon;Membrane raft;Cell membrane;Dendrite NA 1 PE1 -NX_Q9Y6H8 47410 435 6.15 13 Gap junction;Cell membrane Cataract 14, multiple types 4 PE1 -NX_Q9Y6I0 16972 156 5.86 7 NA NA 0 PE3 -NX_Q9Y6I3 60293 576 4.72 19 Cytosol;Clathrin-coated pit;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q9Y6I4 58897 520 8.54 15 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y6I7 47432 421 7.63 17 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y6I8 24264 212 10.07 20 Peroxisome membrane;Nucleolus;Peroxisome NA 2 PE1 -NX_Q9Y6I9 34189 313 4.79 3 Cytosol;Nucleolus;Secreted NA 0 PE1 -NX_Q9Y6J0 246352 2220 5.7 22 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y6J3 10312 95 9.43 5 NA NA 0 PE2 -NX_Q9Y6J6 14472 123 5.57 21 Cell membrane Long QT syndrome 6;Atrial fibrillation, familial, 4 1 PE1 -NX_Q9Y6J8 35818 313 5.73 7 Mitochondrion matrix;Nucleus speckle NA 0 PE1 -NX_Q9Y6J9 67814 622 9.14 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y6K0 46554 416 8.55 1 Endoplasmic reticulum membrane;Nucleus membrane NA 8 PE1 -NX_Q9Y6K1 101858 912 6.19 2 Nucleoplasm;Cytoplasm;Nucleus Tatton-Brown-Rahman syndrome 0 PE1 -NX_Q9Y6K5 121170 1087 8.73 12 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Cell membrane NA 0 PE1 -NX_Q9Y6K8 63333 562 4.96 1 Cytosol;Cytoplasm;Microtubule organizing center NA 0 PE1 -NX_Q9Y6K9 48198 419 5.56 X Cytosol;Cytoplasm;Nucleus Incontinentia pigmenti;Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema;Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked;Recurrent isolated invasive pneumococcal disease 2;Immunodeficiency 33;Immunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia 0 PE1 -NX_Q9Y6L6 76449 691 8.85 12 Basolateral cell membrane Hyperbilirubinemia, Rotor type 12 PE1 -NX_Q9Y6L7 113557 1015 5.6 10 Secreted NA 0 PE1 -NX_Q9Y6M0 34884 314 7.56 16 Cytosol;Cell membrane NA 0 PE1 -NX_Q9Y6M1 66121 599 8.48 3 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y6M4 51389 447 9.29 5 Cytoplasm NA 0 PE1 -NX_Q9Y6M5 55300 507 6.02 1 Cytoplasmic vesicle;Cell membrane NA 6 PE1 -NX_Q9Y6M7 136044 1214 6.26 3 Apical cell membrane;Basolateral cell membrane;Cytosol;Stereocilium;Cell membrane;Focal adhesion NA 11 PE1 -NX_Q9Y6M9 21831 179 8.57 8 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_Q9Y6N1 31430 276 9.22 17 Mitochondrion inner membrane NA 1 PE1 -NX_Q9Y6N3 29971 262 8.42 1 Secreted NA 0 PE1 -NX_Q9Y6N5 49961 450 9.18 15 Mitochondrion NA 0 PE1 -NX_Q9Y6N6 171227 1575 6.14 9 Basement membrane Cortical malformations occipital 0 PE1 -NX_Q9Y6N7 180930 1651 5.7 3 Axon;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cell membrane NA 1 PE1 -NX_Q9Y6N8 88451 788 4.83 5 Cell membrane NA 1 PE1 -NX_Q9Y6N9 62211 552 5.36 11 Cytosol;Microvillus;Cytoskeleton Deafness, autosomal recessive, 18A;Usher syndrome 1C 0 PE1 -NX_Q9Y6P5 56557 492 5.68 6 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y6Q1 74576 641 6.62 X Cytosol;Perinuclear region;Spindle NA 0 PE1 -NX_Q9Y6Q2 83141 735 5.82 2 Cytoplasm;Membrane NA 0 PE1 -NX_Q9Y6Q3 71209 630 9.26 9 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9Y6Q5 48108 423 8.23 19 Cytoplasmic vesicle;Clathrin-coated vesicle membrane;Golgi apparatus NA 0 PE1 -NX_Q9Y6Q6 66034 616 5.21 18 Cytosol;Cell membrane Paget disease of bone 2, early-onset;Osteopetrosis, autosomal recessive 7;Familial expansile osteolysis 1 PE1 -NX_Q9Y6Q9 155293 1424 7.16 20 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9Y6R0 64891 609 9.1 19 Cytoplasm NA 0 PE1 -NX_Q9Y6R1 121461 1079 6.35 4 Basolateral cell membrane Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 12 PE1 -NX_Q9Y6R4 181685 1608 5.94 6 Cytosol;Perinuclear region NA 0 PE1 -NX_Q9Y6R6 96807 833 9.17 19 Nucleus NA 0 PE1 -NX_Q9Y6R7 572017 5405 5.14 19 Cytoskeleton;Golgi apparatus;Cell membrane;Secreted NA 0 PE1 -NX_Q9Y6R9 57368 512 10.27 19 Nucleus NA 0 PE1 -NX_Q9Y6S9 60036 549 7.06 14 Nucleoplasm NA 0 PE1 -NX_Q9Y6T7 90595 804 8.11 7 Cytoplasm NA 0 PE1 -NX_Q9Y6U3 80489 715 5.5 7 Cytoskeleton;Podosome;Cell membrane NA 0 PE1 -NX_Q9Y6U7 41101 377 8.98 22 Cytoskeleton;Nucleolus;Membrane NA 2 PE2 -NX_Q9Y6V0 560699 5142 6.07 7 Nucleus speckle;Synapse;Cell membrane Pontocerebellar hypoplasia 3 0 PE1 -NX_Q9Y6V7 54226 483 9.21 19 Mitochondrion;Nucleolus NA 0 PE1 -NX_Q9Y6W3 92652 813 7.55 3 Nucleus NA 0 PE1 -NX_Q9Y6W5 54284 498 5.38 1 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane;Lamellipodium NA 0 PE1 -NX_Q9Y6W6 52642 482 7.87 1 Cytosol;Nucleoplasm;Nucleus;Golgi apparatus;Cytoplasm NA 0 PE1 -NX_Q9Y6W8 22625 199 9.01 2 Cell membrane;Secreted Immunodeficiency, common variable, 1 1 PE1 -NX_Q9Y6X0 175008 1596 9.76 18 Cytosol;Nucleus Schinzel-Giedion midface retraction syndrome;Leukemia, acute myelogenous;Leukemia, juvenile myelomonocytic;Myelodysplastic syndrome;Mental retardation, autosomal dominant 29;Leukemia, chronic myeloid, atypical 0 PE1 -NX_Q9Y6X1 7374 66 11.01 3 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cell membrane;Membrane NA 1 PE1 -NX_Q9Y6X2 68017 628 7.81 1 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9Y6X3 69082 613 6.84 19 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q9Y6X4 74955 670 4.52 5 Cytosol;Nucleus inner membrane;Nucleus envelope;Nucleus membrane NA 0 PE1 -NX_Q9Y6X5 51641 453 5.71 6 Cell membrane NA 1 PE1 -NX_Q9Y6X6 206129 1858 6.37 13 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q9Y6X8 92307 837 6.42 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y6X9 117823 1032 8.6 22 Cytosol;Nucleus Charcot-Marie-Tooth disease 2Z 0 PE1 -NX_Q9Y6Y0 71729 642 5.33 1 Nucleoplasm;Cytoplasm;Cytoskeleton;Cytosol NA 0 PE1 -NX_Q9Y6Y1 183672 1673 7.29 1 Cytosol;Cytoplasm;Nucleolus;Nucleus Cerebellar ataxia, non-progressive, with mental retardation 0 PE1 -NX_Q9Y6Y8 111076 1000 5.35 10 Cytoplasmic vesicle;COPII-coated vesicle membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q9Y6Y9 18546 160 8.8 8 Cytoplasmic vesicle;Extracellular space;Secreted NA 0 PE1 -NX_Q9Y6Z2 6189 57 5.98 6 NA NA 0 PE4 -NX_Q9Y6Z4 19411 181 9.48 6 NA NA 0 PE5 -NX_Q9Y6Z5 26128 254 11.81 6 NA NA 0 PE5 -NX_Q9Y6Z7 30705 277 6.96 8 Cytoplasm;Golgi apparatus;Secreted 3MC syndrome 3 0 PE1 -NX_Q9YNA8 74183 666 9.05 19 Cell membrane NA 0 PE1 -NX_S4R3P1 2751 24 5.87 4 Cytoplasm;Secreted NA 0 PE3 -NX_S4R3Y5 2737 24 7.98 1 Cytoplasm;Secreted NA 0 PE2 -NX_U3KPV4 38754 340 9.39 1 Golgi stack membrane NA 1 PE2 -NX_W5XKT8 36333 324 6.15 19 Membrane NA 1 PE1 -NX_W6CW81 12732 113 5.57 1 NA NA 0 PE1 +NextprotID SeqLength MW IsoPoint TMDomains SubcellLocations Diseases ProteinExistence Chr +NX_A0A024RBG1 181 20434 5.99 0 Cytoplasm NA PE1 1 +NX_A0A075B6H9 119 12773 6.01 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6I0 122 12814 4.33 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6I1 120 12987 5.8 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6I4 117 12395 7.85 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6I9 117 12468 6.69 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6J1 123 13277 4.75 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6J6 115 12549 3.95 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6J9 118 12412 4.66 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6K0 115 12466 4.58 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6K2 115 12387 5.34 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6K4 115 12441 4.72 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6K5 115 12332 6.81 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6K6 122 13330 5.39 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6N1 114 12769 6.53 0 Cell membrane NA PE1 7 +NX_A0A075B6N2 111 12175 8.52 0 Cell membrane NA PE1 7 +NX_A0A075B6N3 115 12929 7.68 0 Cell membrane NA PE3 7 +NX_A0A075B6N4 114 12983 5.91 0 Cell membrane NA PE3 7 +NX_A0A075B6P5 120 12957 5.61 0 Cell membrane;Secreted NA PE1 2 +NX_A0A075B6Q5 118 12891 7.69 0 Cell membrane;Secreted NA PE1 14 +NX_A0A075B6R2 117 12848 9.64 0 Cell membrane;Secreted NA PE1 14 +NX_A0A075B6S2 120 13143 6.53 0 Cell membrane;Secreted NA PE1 2 +NX_A0A075B6S4 117 12835 9.22 0 Cell membrane;Secreted NA PE1 2 +NX_A0A075B6S5 117 12712 8.5 0 Cell membrane;Secreted NA PE1 2 +NX_A0A075B6S6 120 13215 7.79 0 Cell membrane;Secreted NA PE3 2 +NX_A0A075B6T6 113 12838 6.17 0 Cell membrane NA PE1 14 +NX_A0A075B6T7 132 15362 9.2 0 Cell membrane NA PE3 14 +NX_A0A075B6T8 112 12354 4.83 0 Cell membrane NA PE3 14 +NX_A0A075B6U4 112 12598 8.39 0 Cell membrane NA PE3 14 +NX_A0A075B6V5 113 12697 6.57 0 Cell membrane NA PE3 14 +NX_A0A075B6W5 121 13545 8.45 0 Cell membrane NA PE3 14 +NX_A0A075B6X5 111 12414 5.26 0 Cell membrane NA PE3 14 +NX_A0A075B6Y3 20 2097 11 0 Cell membrane NA PE4 14 +NX_A0A075B706 16 1761 8.26 0 Cell membrane NA PE1 14 +NX_A0A075B759 164 18197 9.43 0 Cytoplasm NA PE3 1 +NX_A0A075B767 164 18208 9.19 0 Cytoplasm NA PE3 1 +NX_A0A087WSX0 123 13162 6.69 0 Cell membrane;Secreted NA PE1 22 +NX_A0A087WSY4 118 13025 9.7 0 Cell membrane;Secreted NA PE1 3 +NX_A0A087WSY6 115 12534 5.14 0 Cell membrane;Secreted NA PE3 2 +NX_A0A087WSZ0 117 12837 7.62 0 Cell membrane;Secreted NA PE1 2 +NX_A0A087WSZ9 112 12582 8.58 0 Cell membrane NA PE3 14 +NX_A0A087WT01 109 12043 5.7 0 Cell membrane NA PE1 14 +NX_A0A087WT02 112 12289 5.26 0 Cell membrane NA PE3 14 +NX_A0A087WT03 109 12306 7.76 0 Cell membrane NA PE1 14 +NX_A0A087WTH1 108 11832 7.61 2 Membrane NA PE2 16 +NX_A0A087WTH5 132 15028 8.73 1 Membrane NA PE3 21 +NX_A0A087WUL8 3843 440408 4.53 0 Cytoplasm NA PE5 1 +NX_A0A087WV62 115 12845 6.7 0 Cell membrane NA PE3 7 +NX_A0A087WVF3 549 62187 9.2 0 Cell membrane NA PE2 17 +NX_A0A087WW87 121 13310 4.43 0 Cell membrane;Secreted NA PE1 2 +NX_A0A087WX78 387 41674 8.87 0 Nucleus NA PE5 18 +NX_A0A087WXM9 373 40829 8.65 0 Kinetochore;Centromere NA PE1 5 +NX_A0A087WXS9 549 62205 9.2 0 Cell membrane NA PE3 17 +NX_A0A087X0M5 115 13028 9.14 0 Cell membrane NA PE3 7 +NX_A0A087X179 549 62131 9.18 0 Cell membrane NA PE2 17 +NX_A0A087X1C5 515 57489 8.7 2 Mitochondrion;Cytoplasm;Membrane NA PE5 22 +NX_A0A087X1G2 549 62171 9.23 0 Cell membrane NA PE3 17 +NX_A0A096LNP1 70 8156 8.26 0 Secreted NA PE2 11 +NX_A0A096LP01 95 10908 6.24 1 Nucleoplasm;Cytosol;Membrane NA PE1 20 +NX_A0A096LP49 1063 114856 9.76 0 NA NA PE1 9 +NX_A0A096LP55 91 10752 4.39 0 Mitochondrion inner membrane NA PE3 1 +NX_A0A096LPI5 108 11989 8.8 0 NA NA PE4 6 +NX_A0A0A0MRZ7 120 13297 4.9 0 Cell membrane;Secreted NA PE3 2 +NX_A0A0A0MRZ8 115 12625 5.15 0 Cell membrane;Secreted NA PE3 2 +NX_A0A0A0MRZ9 124 13446 7.76 0 Cell membrane;Secreted NA PE1 22 +NX_A0A0A0MS14 117 13508 9.2 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0A0MS15 119 13056 8.84 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0A0MT36 114 12340 6.7 0 Cell membrane;Secreted NA PE3 2 +NX_A0A0A0MT76 42 4776 9.53 0 Cell membrane;Secreted NA PE4 22 +NX_A0A0A0MT89 12 1394 8.59 0 Cell membrane;Secreted NA PE4 2 +NX_A0A0A6YYC5 116 12931 5.34 0 Cell membrane NA PE1 14 +NX_A0A0A6YYD4 124 13967 5.84 0 Cell membrane NA PE3 7 +NX_A0A0A6YYG2 114 12632 7.63 0 Cell membrane NA PE3 7 +NX_A0A0A6YYG3 113 12321 7.66 0 Cell membrane NA PE3 7 +NX_A0A0A6YYJ7 113 12676 6.81 0 Cell membrane NA PE3 14 +NX_A0A0A6YYK1 113 12788 7.81 0 Cell membrane NA PE3 14 +NX_A0A0A6YYK6 109 12578 9.51 0 Cell membrane NA PE3 14 +NX_A0A0A6YYK7 116 13195 4.75 0 Cell membrane NA PE1 14 +NX_A0A0A6YYL3 544 61708 5.75 0 NA NA PE1 15 +NX_A0A0B4J1U3 117 12478 4.56 0 Cell membrane;Secreted NA PE1 22 +NX_A0A0B4J1U6 114 12608 5.82 0 Cell membrane NA PE3 7 +NX_A0A0B4J1U7 121 13481 9.3 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0B4J1V0 119 12926 8.84 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0B4J1V1 117 12840 8.49 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0B4J1V2 119 13182 8.49 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0B4J1V6 119 12858 9.3 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0B4J1X5 117 12840 8.91 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0B4J1X8 118 13077 5.28 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0B4J1Y8 123 13024 6.7 0 Cell membrane;Secreted NA PE1 22 +NX_A0A0B4J1Y9 119 13203 7.69 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0B4J1Z2 117 12989 9.1 0 Cell membrane;Secreted NA PE1 2 +NX_A0A0B4J234 112 12502 6.71 0 Cell membrane NA PE3 14 +NX_A0A0B4J235 113 12716 6.71 0 Cell membrane NA PE3 14 +NX_A0A0B4J237 113 12429 6.89 0 Cell membrane NA PE3 14 +NX_A0A0B4J238 106 11863 5.19 0 Cell membrane NA PE3 14 +NX_A0A0B4J240 114 12852 9.07 0 Cell membrane NA PE3 14 +NX_A0A0B4J241 112 12580 5.5 0 Cell membrane NA PE1 14 +NX_A0A0B4J244 114 12614 7.74 0 Cell membrane NA PE3 14 +NX_A0A0B4J245 112 12865 7.68 0 Cell membrane NA PE3 14 +NX_A0A0B4J248 108 11926 4.49 0 Cell membrane NA PE3 14 +NX_A0A0B4J249 113 12968 4.78 0 Cell membrane NA PE3 14 +NX_A0A0B4J262 113 12690 5.17 0 Cell membrane NA PE3 14 +NX_A0A0B4J263 110 12540 7.76 0 Cell membrane NA PE1 14 +NX_A0A0B4J264 116 13297 6.2 0 Cell membrane NA PE3 14 +NX_A0A0B4J265 109 12172 6.17 0 Cell membrane NA PE3 14 +NX_A0A0B4J266 112 12352 9.22 0 Cell membrane NA PE3 14 +NX_A0A0B4J268 109 12215 7.76 0 Cell membrane NA PE1 14 +NX_A0A0B4J271 114 13173 7.71 0 Cell membrane NA PE1 14 +NX_A0A0B4J272 114 12919 5.51 0 Cell membrane NA PE1 14 +NX_A0A0B4J273 112 12465 6.28 0 Cell membrane NA PE3 14 +NX_A0A0B4J274 112 12682 5.02 0 Cell membrane NA PE1 14 +NX_A0A0B4J275 112 12500 7.81 0 Cell membrane NA PE3 14 +NX_A0A0B4J276 109 12388 9 0 Cell membrane NA PE3 14 +NX_A0A0B4J277 110 12145 6.54 0 Cell membrane NA PE1 14 +NX_A0A0B4J279 112 12289 5.21 0 Cell membrane NA PE1 14 +NX_A0A0B4J280 105 11556 6.1 0 Cell membrane NA PE3 14 +NX_A0A0B4J2A2 164 18156 9.32 0 Cytoplasm NA PE2 1 +NX_A0A0B4J2D5 268 28142 8.5 0 Mitochondrion NA PE1 21 +NX_A0A0B4J2D9 117 12569 7.68 0 Cell membrane;Secreted NA PE1 2 +NX_A0A0B4J2E0 115 12982 5.84 0 Cell membrane NA PE1 7 +NX_A0A0B4J2F0 54 6313 8.04 0 Secreted NA PE1 15 +NX_A0A0B4J2F2 783 84930 6.81 0 NA NA PE3 21 +NX_A0A0B4J2H0 117 12660 8.64 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0C4DH24 114 12430 6.7 0 Cell membrane;Secreted NA PE3 2 +NX_A0A0C4DH25 116 12515 4.46 0 Cell membrane;Secreted NA PE1 2 +NX_A0A0C4DH29 117 13008 9.59 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0C4DH31 117 12820 8.98 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0C4DH32 117 12673 7.71 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0C4DH33 117 12824 5.04 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0C4DH34 117 13124 9.36 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0C4DH38 117 12675 8.45 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0C4DH39 117 13005 9.34 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0C4DH41 118 13066 9.36 0 Cell membrane;Secreted NA PE3 14 +NX_A0A0C4DH42 116 12698 8.38 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0C4DH43 119 13312 8.5 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0C4DH55 119 13148 5.64 0 Cell membrane;Secreted NA PE1 2 +NX_A0A0C4DH59 114 12518 5.52 0 Cell membrane NA PE3 7 +NX_A0A0C4DH62 17 1910 5.24 0 Cell membrane;Secreted NA PE4 14 +NX_A0A0C4DH67 115 12537 9.21 0 Cell membrane;Secreted NA PE1 2 +NX_A0A0C4DH68 120 13079 8.74 0 Cell membrane;Secreted NA PE1 2 +NX_A0A0C4DH69 117 12715 8.52 0 Cell membrane;Secreted NA PE1 2 +NX_A0A0C4DH72 117 12697 8.52 0 Cell membrane;Secreted NA PE1 2 +NX_A0A0C4DH73 117 12645 8.55 0 Cell membrane;Secreted NA PE3 2 +NX_A0A0C5B5G6 16 2175 10.27 0 Secreted NA PE1 MT +NX_A0A0D9SF12 145 16203 8.31 1 Membrane NA PE2 1 +NX_A0A0G2JMD5 474 55092 8.62 0 NA NA PE3 1 +NX_A0A0G2JMI3 117 12871 4.72 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0G2JS06 123 13394 8.84 0 Cell membrane;Secreted NA PE1 22 +NX_A0A0J9YVY3 117 12849 8.86 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0J9YWL9 993 109806 8.94 0 NA NA PE5 X +NX_A0A0J9YX35 117 12823 7.68 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0J9YX75 114 12484 6.8 0 Cell membrane NA PE3 7 +NX_A0A0J9YX94 578 60071 4.47 0 NA NA PE1 X +NX_A0A0J9YXA8 15 1640 6 0 Cell membrane NA PE4 7 +NX_A0A0J9YXQ4 647 65155 4.62 0 NA NA PE1 X +NX_A0A0J9YXX1 117 12773 8.46 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0J9YXY3 114 12525 8.38 0 Cell membrane NA PE1 7 +NX_A0A0J9YY54 714 78886 7.31 0 NA NA PE1 X +NX_A0A0K0K1A3 114 12970 6.36 0 Cell membrane NA PE3 7 +NX_A0A0K0K1A5 114 12402 6.01 0 Cell membrane NA PE1 7 +NX_A0A0K0K1B3 111 12225 8.57 0 Cell membrane NA PE3 7 +NX_A0A0K0K1C0 115 12817 4.72 0 Cell membrane NA PE3 7 +NX_A0A0K0K1C4 114 12838 8.45 0 Cell membrane NA PE3 7 +NX_A0A0K0K1D8 114 12632 7.64 0 Cell membrane NA PE3 7 +NX_A0A0K0K1E9 115 12787 6.71 0 Cell membrane NA PE3 7 +NX_A0A0K0K1G6 114 13035 6.58 0 Cell membrane NA PE3 7 +NX_A0A0K0K1G8 114 13045 7.75 0 Cell membrane NA PE3 7 +NX_A0A0K2S4Q6 201 21806 5.37 1 Secreted;Membrane NA PE1 17 +NX_A0A0U1RQE8 302 34553 8.56 0 NA NA PE1 11 +NX_A0A0U1RQF7 123 13402 9.67 0 NA NA PE2 16 +NX_A0A0U1RQI7 1052 112602 4.73 0 Nucleus NA PE3 1 +NX_A0A0U1RR11 272 29887 10.16 0 NA NA PE2 X +NX_A0A0U1RR37 186 20280 4.63 0 NA NA PE4 1 +NX_A0A0U1RRE5 68 7025 9.51 0 P-body NA PE1 X +NX_A0A0U1RRI6 287 31262 9.8 0 NA NA PE1 X +NX_A0A0U1RRK4 108 10701 4.78 0 NA NA PE1 14 +NX_A0A0U1RRL7 71 7680 4.64 0 NA NA PE1 20 +NX_A0A0U1RRN3 59 6977 6.54 1 Membrane NA PE3 11 +NX_A0A140G945 173 19909 5.77 0 Cytoplasm;Nucleus NA PE1 21 +NX_A0A183 80 9022 9.13 0 NA NA PE2 1 +NX_A0A1B0GTC6 90 10386 5.44 0 NA NA PE1 3 +NX_A0A1B0GTD5 131 15631 9.56 0 NA NA PE2 12 +NX_A0A1B0GTH6 734 81798 10.01 0 Nucleus NA PE2 3 +NX_A0A1B0GTI8 121 14321 4.92 2 Membrane NA PE2 13 +NX_A0A1B0GTK4 181 20560 8.96 1 Membrane NA PE3 2 +NX_A0A1B0GTK5 79 8682 8.8 0 NA NA PE3 X +NX_A0A1B0GTL2 189 20914 11.95 0 NA NA PE1 20 +NX_A0A1B0GTQ4 84 9607 11.45 0 Cell membrane NA PE3 6 +NX_A0A1B0GTR0 161 18455 8.6 0 Secreted NA PE2 19 +NX_A0A1B0GTR3 108 12028 10.8 0 NA NA PE1 X +NX_A0A1B0GTR4 108 11945 8.55 0 NA NA PE5 1 +NX_A0A1B0GTS1 333 37155 6.48 0 Nucleus NA PE2 X +NX_A0A1B0GTU1 805 88937 6.4 0 NA NA PE1 1 +NX_A0A1B0GTU2 59 6734 4.19 1 Membrane NA PE3 15 +NX_A0A1B0GTW7 788 85397 8.04 1 Membrane NA PE3 14 +NX_A0A1B0GTY4 177 20847 9.36 1 Membrane NA PE1 1 +NX_A0A1B0GTZ2 297 34479 8.83 0 NA NA PE5 14 +NX_A0A1B0GU29 152 16551 4.52 1 Membrane NA PE3 6 +NX_A0A1B0GU33 70 8127 10.53 0 NA NA PE2 9 +NX_A0A1B0GU71 98 11681 10.74 0 NA NA PE3 13 +NX_A0A1B0GUA5 103 10859 9.03 1 Membrane NA PE2 5 +NX_A0A1B0GUA6 201 21921 8.34 0 NA NA PE5 2 +NX_A0A1B0GUA7 166 18842 7.59 1 Membrane NA PE2 2 +NX_A0A1B0GUA9 212 23433 4.84 0 NA NA PE1 13 +NX_A0A1B0GUC4 108 12046 9 0 NA NA PE4 1 +NX_A0A1B0GUI7 84 9747 9.66 0 NA NA PE5 9 +NX_A0A1B0GUJ8 204 22873 9.07 0 NA NA PE2 19 +NX_A0A1B0GUQ0 79 8715 7.8 0 NA NA PE2 X +NX_A0A1B0GUS0 222 23875 6.04 0 NA NA PE2 19 +NX_A0A1B0GUS4 154 17875 7.67 0 NA NA PE1 13 +NX_A0A1B0GUT2 108 11738 9.21 0 NA NA PE2 10 +NX_A0A1B0GUU1 675 72432 5.84 1 Membrane NA PE3 17 +NX_A0A1B0GUV7 120 13937 8.99 0 NA NA PE2 9 +NX_A0A1B0GUW6 1196 128649 8.57 1 Membrane NA PE1 17 +NX_A0A1B0GUW7 55 6429 10.13 1 Membrane NA PE3 9 +NX_A0A1B0GUX0 176 20389 9.87 0 NA NA PE1 7 +NX_A0A1B0GUY1 285 29775 10.29 0 NA NA PE1 5 +NX_A0A1B0GV03 622 75583 5.31 0 NA NA PE1 15 +NX_A0A1B0GV22 79 8715 7.8 0 NA NA PE2 X +NX_A0A1B0GV85 526 56837 6.53 1 Membrane NA PE2 4 +NX_A0A1B0GV90 55 5988 6 1 Membrane NA PE3 1 +NX_A0A1B0GVG4 234 24954 10.03 0 NA NA PE3 19 +NX_A0A1B0GVG6 124 14093 4.82 0 NA NA PE1 11 +NX_A0A1B0GVH4 220 25576 8.73 0 Secreted NA PE3 8 +NX_A0A1B0GVH6 325 37385 9.25 0 NA NA PE4 13 +NX_A0A1B0GVH7 501 59586 9.96 0 NA NA PE4 4 +NX_A0A1B0GVK7 77 9685 9.92 0 NA NA PE4 3 +NX_A0A1B0GVM5 59 6800 10.18 0 NA NA PE4 X +NX_A0A1B0GVM6 126 13914 9.43 0 Cilium basal body NA PE2 11 +NX_A0A1B0GVN3 265 30198 9.03 1 Membrane NA PE2 2 +NX_A0A1B0GVQ0 90 9632 8.51 1 Lysosome membrane;Late endosome membrane NA PE1 9 +NX_A0A1B0GVS7 189 21509 4.64 0 NA NA PE2 3 +NX_A0A1B0GVT2 93 10135 5.51 1 Membrane NA PE1 17 +NX_A0A1B0GVV1 85 9379 5.56 1 Membrane NA PE3 11 +NX_A0A1B0GVY4 71 8394 5.19 1 Membrane NA PE2 4 +NX_A0A1B0GVZ2 78 9744 8.52 0 NA NA PE4 9 +NX_A0A1B0GVZ6 204 22665 11.53 0 NA NA PE3 19 +NX_A0A1B0GVZ9 245 26874 6.68 5 Membrane NA PE3 1 +NX_A0A1B0GW35 172 20250 6.31 0 NA NA PE2 4 +NX_A0A1B0GW64 132 14123 5.14 1 Membrane NA PE3 5 +NX_A0A1B0GWB2 263 26769 4.77 2 Membrane NA PE1 9 +NX_A0A1B0GWG4 90 10219 6.01 1 Membrane NA PE2 X +NX_A0A1B0GWH4 333 37128 6.48 0 Nucleus NA PE2 X +NX_A0A1B0GWK0 134 15275 5.66 0 NA NA PE3 17 +NX_A0A1B0GX31 115 12827 7.72 0 Cell membrane NA PE3 7 +NX_A0A1B0GX49 114 12298 7.68 0 Cell membrane NA PE1 7 +NX_A0A1B0GX51 115 12715 6.71 0 Cell membrane NA PE3 7 +NX_A0A1B0GX56 115 12955 9.2 0 Cell membrane NA PE1 14 +NX_A0A1B0GX68 115 13403 4.83 0 Cell membrane NA PE3 7 +NX_A0A1B0GX78 115 12997 6.07 0 Cell membrane NA PE3 7 +NX_A0A1B0GX95 115 12658 9.6 0 Cell membrane NA PE3 7 +NX_A0A1B0GXF2 115 12480 6.05 0 Cell membrane NA PE1 7 +NX_A0A1W2PP97 115 13152 5.79 0 NA NA PE3 19 +NX_A0A1W2PPG7 69 7528 5.14 0 Cell membrane NA PE5 19 +NX_A0A1W2PR19 241 27942 6.51 0 Cytoplasm NA PE3 22 +NX_A0A1W2PR48 441 48656 5.58 0 NA NA PE1 16 +NX_A0A1W2PS18 150 15819 4.16 2 Membrane NA PE3 19 +NX_A0A286YEV6 105 9792 8.41 0 NA NA PE1 2 +NX_A0A286YEX9 47 3825 7.96 0 NA NA PE1 2 +NX_A0A286YEY9 88 8607 8.46 0 NA NA PE1 2 +NX_A0A286YF01 96 8951 8.36 0 NA NA PE1 2 +NX_A0A286YF46 85 8201 8.39 0 NA NA PE1 2 +NX_A0A286YF58 385 39128 9.55 4 Membrane NA PE3 4 +NX_A0A286YF60 100 9511 8.47 0 NA NA PE1 2 +NX_A0A286YF77 105 9896 8.45 0 NA NA PE1 2 +NX_A0A286YFB4 120 10822 8.34 0 NA NA PE1 2 +NX_A0A286YFG1 108 10123 8.39 0 NA NA PE1 2 +NX_A0A2R8Y4Y8 160 18448 9.41 0 Secreted NA PE3 11 +NX_A0A2R8YFL7 184 21040 8.19 0 Secreted NA PE3 11 +NX_A0A2R8YFM6 193 21194 5.48 0 Secreted NA PE3 11 +NX_A0A539 114 12890 8.19 0 Cell membrane NA PE3 7 +NX_A0A576 114 12928 8.21 0 Cell membrane NA PE3 7 +NX_A0A577 114 12859 8.48 0 Cell membrane NA PE3 7 +NX_A0A578 114 12600 9.55 0 Cell membrane NA PE1 7 +NX_A0A584 115 12743 8.39 0 Cell membrane NA PE3 7 +NX_A0A589 114 12856 7.63 0 Cell membrane NA PE3 7 +NX_A0A597 114 12550 8.42 0 Cell membrane NA PE3 7 +NX_A0A599 114 12565 5.81 0 Cell membrane NA PE3 7 +NX_A0A5A2 114 12721 6.06 0 Cell membrane NA PE3 7 +NX_A0A5A6 115 12990 4.93 0 Cell membrane NA PE3 7 +NX_A0A5B0 115 12880 7.75 0 Cell membrane NA PE3 7 +NX_A0A5B6 114 13166 8.35 0 Cell membrane NA PE1 7 +NX_A0A5B7 111 12190 4.88 0 Cell membrane NA PE3 7 +NX_A0A5B9 178 19968 6.48 1 Cell membrane NA PE1 7 +NX_A0AUZ9 987 112253 8.69 0 Cytosol NA PE1 2 +NX_A0AV02 714 78239 5.51 13 Nucleoplasm;Membrane NA PE1 3 +NX_A0AV96 593 64099 7.56 0 Cytosol;Nucleoplasm;Nucleus NA PE1 4 +NX_A0AVF1 554 64178 6.5 0 Nucleus speckle;Cytosol;Cytoplasm;Nucleus;Cytoskeleton;Cilium NA PE1 7 +NX_A0AVI2 2057 237935 8.3 1 Cell membrane;Membrane NA PE2 2 +NX_A0AVI4 362 40464 7.84 3 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA PE1 4 +NX_A0AVK6 867 94166 9.11 0 Cytosol;Nucleolus;Nucleus NA PE1 11 +NX_A0AVT1 1052 117970 5.76 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 4 +NX_A0FGR8 921 102357 9.33 2 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA PE1 7 +NX_A0FGR9 886 100035 8.68 2 Endoplasmic reticulum membrane;Cell membrane NA PE1 3 +NX_A0JD32 116 13278 4.99 0 Cell membrane NA PE3 14 +NX_A0JD36 115 12944 6.06 0 Cell membrane NA PE1 14 +NX_A0JD37 113 12981 5.5 0 Cell membrane NA PE1 14 +NX_A0JLT2 244 26273 9.83 0 Nucleus NA PE1 11 +NX_A0JNW5 1464 164199 5.89 0 Cytosol;Cell membrane;Early endosome NA PE1 12 +NX_A0JP26 581 65710 6.24 0 NA NA PE2 15 +NX_A0M8Q6 106 11254 8.5 0 Cell membrane;Secreted NA PE1 22 +NX_A0MZ66 631 71640 5.27 0 Perikaryon;Cytosol;Cell membrane;Axon;Nucleus;Filopodium;Lamellipodium;Cytoskeleton;Growth cone NA PE1 10 +NX_A0PG75 271 30027 5.12 0 NA NA PE2 3 +NX_A0PJE2 317 35146 6.84 0 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA PE2 13 +NX_A0PJK1 596 64342 7.55 14 Cell membrane;Endoplasmic reticulum NA PE1 17 +NX_A0PJW6 202 22049 11.03 2 Mitochondrion;Nucleus;Nucleus membrane;Membrane NA PE1 11 +NX_A0PJW8 107 11880 10 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 2 +NX_A0PJX0 185 21745 4.64 0 NA NA PE1 2 +NX_A0PJX2 215 23912 4.67 0 NA NA PE1 20 +NX_A0PJX4 238 25832 6.5 1 Cytosol;Endoplasmic reticulum membrane;Lipid droplet NA PE1 4 +NX_A0PJX8 343 37222 8.57 8 Cytosol;Nucleoplasm;Membrane NA PE1 1 +NX_A0PJY2 475 52038 9.62 0 Cytosol;Nucleus Hypogonadotropic hypogonadism 22 with or without anosmia PE1 7 +NX_A0PJZ0 165 18446 8.26 0 NA NA PE5 18 +NX_A0PJZ3 443 51056 9.79 1 Nucleoplasm;Cytoskeleton;Midbody ring;Membrane NA PE1 3 +NX_A0PK00 339 40246 9.08 6 Cytosol;Nucleolus;Nucleus inner membrane NA PE1 12 +NX_A0PK05 275 29891 6.07 4 Membrane NA PE1 10 +NX_A0PK11 232 25446 6.51 4 Membrane NA PE2 4 +NX_A0ZSE6 113 13039 8.2 1 Membrane NA PE2 3 +NX_A1A4F0 135 15626 9.28 0 Nucleoplasm;Nucleus NA PE2 3 +NX_A1A4G5 178 21321 8.59 0 Cytoplasmic vesicle;Nucleus speckle;Cytosol NA PE1 3 +NX_A1A4S6 786 89375 6.75 0 Nucleus membrane;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Perinuclear region NA PE1 4 +NX_A1A4V9 331 37921 6.29 0 Cytosol NA PE1 16 +NX_A1A4Y4 181 20142 5.23 0 Phagosome membrane;Autophagosome membrane;Phagocytic cup;Golgi apparatus membrane;Cell membrane Inflammatory bowel disease 19 PE1 5 +NX_A1A519 330 37158 5 0 Nucleus NA PE1 5 +NX_A1A580 65 6892 5.26 0 NA NA PE1 21 +NX_A1A5B4 782 90333 8.45 8 Cell membrane;Golgi apparatus NA PE1 11 +NX_A1A5C7 686 73748 7.98 10 Cytosol;Cytoplasmic vesicle;Nucleoplasm;Membrane NA PE1 6 +NX_A1A5D9 508 56834 4.99 0 Cytosol;Cytoskeleton NA PE1 16 +NX_A1E959 279 30777 4.49 0 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Secreted NA PE1 4 +NX_A1IGU5 675 76278 6.47 0 Cytosol NA PE1 5 +NX_A1KXE4 195 20324 9.26 2 Axon;Cytoplasm;Perinuclear region;Nucleus;Cell membrane NA PE1 2 +NX_A1KZ92 1463 163686 7.25 0 Cytosol;Cytoplasm;Nucleoplasm;Secreted NA PE1 8 +NX_A1L020 520 54173 7.02 0 Cytosol;Cytoplasm;P-body;Nucleus NA PE1 1 +NX_A1L0T0 632 67868 8.42 1 Cytoplasmic vesicle;Golgi apparatus;Membrane NA PE1 19 +NX_A1L157 253 28245 7.53 4 Cytoplasmic vesicle;Membrane NA PE2 12 +NX_A1L162 156 17672 3.86 0 Cytoplasmic vesicle;Nucleolus NA PE1 2 +NX_A1L167 161 18338 7.74 0 Nucleus;Cell membrane NA PE1 5 +NX_A1L168 122 13591 9.13 0 NA NA PE2 20 +NX_A1L170 272 29057 5.19 0 Nucleoplasm NA PE1 1 +NX_A1L188 74 7756 9.56 0 Mitochondrion NA PE1 17 +NX_A1L190 88 10601 4.53 0 Nucleolus;Nucleus;Golgi apparatus;Chromosome NA PE1 22 +NX_A1L1A6 192 20591 6.28 1 Nucleus;Cell junction;Membrane NA PE2 19 +NX_A1L390 1219 134412 6.13 0 Cytosol;Nucleoplasm;Cytoskeleton;Centrosome;Cell membrane NA PE1 14 +NX_A1L3X0 281 33356 9.34 7 Endoplasmic reticulum membrane NA PE1 5 +NX_A1L3X4 49 4983 8.38 0 NA NA PE5 16 +NX_A1L429 117 12925 4.23 0 NA NA PE1 X +NX_A1L443 756 80770 8.51 0 NA NA PE2 9 +NX_A1L453 326 35356 6.04 0 Secreted NA PE1 1 +NX_A1L4H1 1573 165743 5.71 0 Cytosol;Cytoplasm;Nucleoplasm;Secreted NA PE1 19 +NX_A1L4K1 749 85385 4.81 0 Perinuclear region;Sarcoplasmic reticulum;Nucleus NA PE1 15 +NX_A1L4L8 177 19885 7.94 0 NA NA PE2 5 +NX_A1L4Q6 167 18020 6.08 0 NA NA PE5 11 +NX_A1X283 911 101579 8.82 0 Cytoplasm;Podosome;Nucleus;Nucleolus Frank-Ter Haar syndrome PE1 5 +NX_A1XBS5 289 33431 5.89 0 Centriole;Cytoplasm;Mitochondrion;Nucleus;Cilium basal body NA PE1 8 +NX_A1YPR0 619 69017 5.09 0 NA NA PE1 18 +NX_A1Z1Q3 425 47421 4.59 0 Nucleolus;Nucleus;Centrosome NA PE1 20 +NX_A2A288 527 58078 8.92 0 Cytosol;Cytoplasm;P-body;Nucleus;Nucleoplasm NA PE1 6 +NX_A2A2V5 107 11458 4.33 1 Cytoplasmic vesicle;Membrane NA PE2 13 +NX_A2A2Y4 597 68772 5.97 1 Nucleoplasm;Cell membrane;Golgi apparatus;Membrane NA PE1 9 +NX_A2A2Z9 1011 118231 8.35 0 NA NA PE1 9 +NX_A2A368 324 36178 5.25 0 NA NA PE4 X +NX_A2A3K4 754 84457 7.35 0 Nucleoplasm NA PE1 9 +NX_A2A3L6 582 63396 9.37 0 Nucleoplasm NA PE4 1 +NX_A2A3N6 862 95048 5.46 0 Cytoplasm NA PE5 10 +NX_A2AJT9 711 83871 9.71 0 Mitochondrion;Nucleoplasm NA PE1 X +NX_A2CJ06 578 65320 9.18 0 Cell membrane NA PE2 2 +NX_A2IDD5 438 48521 8.27 0 Centriole;Perinuclear region;Sarcoplasmic reticulum;Sarcolemma Myopathy, centronuclear, 4 PE1 16 +NX_A2NJV5 120 13085 6.7 0 Cell membrane;Secreted NA PE1 2 +NX_A2PYH4 1435 162610 6.66 0 Cytoplasmic vesicle;Golgi apparatus Premature ovarian failure 9 PE1 1 +NX_A2RRD8 509 59326 9.16 0 Nucleoplasm;Cytosol;Nucleus NA PE1 19 +NX_A2RRH5 827 90038 8.25 0 Nucleoplasm NA PE1 6 +NX_A2RRL7 107 11520 5.41 1 Membrane NA PE2 7 +NX_A2RRP1 2371 268571 5.65 0 Endoplasmic reticulum membrane;Nucleolus;Nucleus membrane;Golgi apparatus;Cytoplasm;Endoplasmic reticulum Infantile liver failure syndrome 2;Short stature, optic nerve atrophy, and Pelger-Huet anomaly PE1 2 +NX_A2RTX5 802 92646 5.74 0 Cytosol;Cytoplasm;Nucleus NA PE1 15 +NX_A2RTY3 570 65681 9.32 0 NA NA PE1 17 +NX_A2RU14 115 12459 6.7 3 Cytosol;Cilium;Cell membrane;Membrane NA PE1 11 +NX_A2RU30 521 59213 5.48 0 Endoplasmic reticulum membrane;Cytoplasm NA PE1 12 +NX_A2RU37 121 13369 10.58 0 NA NA PE2 9 +NX_A2RU48 225 24877 8.32 1 Membrane NA PE1 12 +NX_A2RU49 373 41933 6.36 0 Cytoplasmic vesicle;Cytoplasm NA PE1 15 +NX_A2RU54 273 29598 9.16 0 Nucleus NA PE1 10 +NX_A2RU67 622 67039 4.88 1 Endoplasmic reticulum;Membrane NA PE1 12 +NX_A2RUB1 952 107559 6.68 0 Cytoplasm;Nucleus;Cell junction NA PE1 17 +NX_A2RUB6 948 109411 8.47 0 Cell junction;Photoreceptor outer segment;Midbody ring;Cilium;Centriolar satellite;Photoreceptor inner segment;Microtubule organizing center;Centrosome;Cilium basal body NA PE1 3 +NX_A2RUC4 315 36548 7.1 0 Nucleus NA PE1 2 +NX_A2RUG3 117 12988 8.91 3 Membrane NA PE2 Y +NX_A2RUH7 354 38733 8.65 0 NA NA PE1 1 +NX_A2RUQ5 167 17761 10.63 0 NA NA PE2 17 +NX_A2RUR9 1427 165125 5.26 0 NA NA PE2 17 +NX_A2RUS2 1198 135890 6.63 0 Cytosol;Cytoplasm;Cytoplasmic vesicle NA PE1 8 +NX_A2RUT3 159 17572 10.06 1 Membrane NA PE1 3 +NX_A2RUU4 121 14057 8.92 0 Secreted NA PE2 6 +NX_A2VCK2 349 37665 9 0 NA NA PE1 1 +NX_A2VDF0 154 16765 5.49 0 NA NA PE1 10 +NX_A2VDJ0 1609 179339 6.43 1 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Endoplasmic reticulum;Cell membrane NA PE1 4 +NX_A2VEC9 5150 547841 5.66 0 Extracellular space NA PE1 7 +NX_A3KFT3 312 35112 8.56 7 Cell membrane NA PE3 1 +NX_A3KMH1 1905 214824 7.01 0 Mitochondrion;Cytoplasmic vesicle;Lipid droplet;Peroxisome NA PE1 13 +NX_A3KN83 1393 154312 7.96 0 Nucleoplasm NA PE1 12 +NX_A3QJZ6 481 55489 8.4 0 NA NA PE3 1 +NX_A3QJZ7 478 55206 8.58 0 NA NA PE3 1 +NX_A4D0S4 1761 193540 5.93 0 Cytosol;Basement membrane NA PE1 7 +NX_A4D0T2 115 13234 9.3 1 Membrane NA PE4 7 +NX_A4D0T7 59 6102 5.93 1 Membrane NA PE2 7 +NX_A4D0V7 1026 117491 8.41 0 Nucleus;Endoplasmic reticulum NA PE1 7 +NX_A4D0Y5 90 10046 6.55 0 NA NA PE4 7 +NX_A4D126 451 49873 5.86 0 Cytosol;Nucleolus;Nucleus Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7;Muscular dystrophy-dystroglycanopathy limb-girdle C7 PE1 7 +NX_A4D161 298 33083 6.33 0 Cytosol NA PE1 7 +NX_A4D174 169 19096 9.51 0 NA NA PE2 7 +NX_A4D1B5 854 97802 6.38 0 Cytoplasmic vesicle;trans-Golgi network NA PE1 7 +NX_A4D1E1 1349 152573 8.84 0 NA NA PE2 7 +NX_A4D1E9 387 42933 9.12 0 Nucleolus;Chromosome NA PE1 7 +NX_A4D1F6 860 98035 7.24 0 NA NA PE1 7 +NX_A4D1N5 150 16741 7.87 0 NA NA PE2 7 +NX_A4D1P6 747 83344 6.15 0 Early endosome membrane;Late endosome membrane NA PE1 7 +NX_A4D1S0 409 42851 5.63 1 Membrane NA PE1 7 +NX_A4D1S5 217 24400 6.06 0 Cell membrane NA PE1 7 +NX_A4D1T9 235 26445 9.05 0 Acrosome;Secreted NA PE1 7 +NX_A4D1U4 455 51446 5.18 0 Golgi apparatus NA PE1 7 +NX_A4D1Z8 144 15999 6.28 0 NA NA PE2 7 +NX_A4D250 179 19503 4.86 0 NA NA PE2 7 +NX_A4D256 447 51614 8.33 1 Endoplasmic reticulum membrane NA PE1 7 +NX_A4D263 438 49672 8.67 0 NA NA PE1 7 +NX_A4D2B0 266 27202 4.73 0 NA NA PE1 7 +NX_A4D2B8 440 47508 8.75 0 NA NA PE5 7 +NX_A4D2G3 310 34606 8.65 7 Cell membrane NA PE2 7 +NX_A4D2H0 777 87868 5.15 1 Membrane NA PE2 7 +NX_A4D2P6 1211 132276 7.11 0 Postsynaptic cell membrane NA PE1 7 +NX_A4FU01 709 79545 6.59 0 Centrosome NA PE1 1 +NX_A4FU28 777 87953 5.22 1 Membrane NA PE2 6 +NX_A4FU49 640 70519 5.6 0 Nucleus;Cell membrane NA PE1 1 +NX_A4FU69 1503 173404 5.58 0 NA NA PE1 17 +NX_A4GXA9 379 41178 5.97 0 Nucleus NA PE1 16 +NX_A4IF30 521 57809 9 10 Nucleolus;Membrane NA PE2 14 +NX_A4QMS7 147 16991 7.02 0 NA NA PE1 5 +NX_A4QN01 128 15288 9.18 0 NA NA PE2 10 +NX_A4QPB2 252 28483 5.92 0 Nucleoplasm NA PE2 22 +NX_A4QPH2 592 66944 6.68 0 NA NA PE5 22 +NX_A4UGR9 3374 382300 5.99 0 Nucleoplasm;Cell junction;Cell membrane NA PE1 2 +NX_A5A3E0 1075 121445 5.82 0 Cell cortex NA PE1 2 +NX_A5D6W6 292 32207 9.86 6 Endoplasmic reticulum membrane NA PE1 14 +NX_A5D8T8 446 49602 8.47 0 Endosome;Endoplasmic reticulum;Golgi apparatus;Secreted NA PE1 16 +NX_A5D8V6 355 38659 5.19 0 Cytoplasmic vesicle;Late endosome membrane;Nucleus NA PE1 11 +NX_A5D8V7 595 69140 9.11 0 Centriole;Nucleoplasm;Cilium;Cilium axoneme;Cilium basal body Ciliary dyskinesia, primary, 30 PE1 19 +NX_A5D8W1 941 105883 6.81 0 Flagellum;Cilium Spermatogenic failure 24 PE1 7 +NX_A5LHX3 300 32530 5.99 0 Cytoplasm;Nucleus NA PE1 14 +NX_A5PKW4 1024 109543 6.43 0 Cytosol;Nucleoplasm;Cleavage furrow;Cell membrane;Ruffle membrane NA PE1 10 +NX_A5PL33 1030 107498 8.09 0 Cytosol;Nucleus NA PE1 7 +NX_A5PLK6 1076 125688 9.15 1 Membrane NA PE1 1 +NX_A5PLL1 514 56414 7.61 0 Cytosol;Cytoplasm;Mitochondrion;Nucleus;Nucleoplasm NA PE1 5 +NX_A5PLL7 270 31135 6.33 3 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 20 +NX_A5PLN7 773 82698 9.53 0 Golgi apparatus NA PE1 4 +NX_A5PLN9 417 46524 5.4 0 Nucleus;Cell membrane NA PE1 5 +NX_A5X5Y0 456 51438 6.46 4 Cell membrane NA PE1 3 +NX_A5YKK6 2376 266939 6.65 0 Cytosol;P-body;Nucleus NA PE1 16 +NX_A5YM69 484 53287 4.27 0 NA NA PE1 7 +NX_A5YM72 827 88484 5.83 0 NA NA PE1 11 +NX_A6BM72 1044 110844 5.78 1 Basolateral cell membrane;Cell membrane NA PE1 15 +NX_A6H8M9 788 85827 5.24 1 Membrane NA PE1 3 +NX_A6H8Y1 2624 293885 5.06 0 Nucleus NA PE1 5 +NX_A6H8Z2 402 45394 5.37 0 NA NA PE1 9 +NX_A6NC05 138 15764 9.26 0 Mitochondrion NA PE1 5 +NX_A6NC42 116 13498 9.26 0 Cytoplasm NA PE1 6 +NX_A6NC51 233 25701 9.05 6 Endosome membrane;Autophagosome membrane;Cell membrane NA PE2 19 +NX_A6NC57 917 106446 6.25 0 NA NA PE2 18 +NX_A6NC62 111 12297 9.05 0 NA NA PE5 7 +NX_A6NC78 632 71330 7.14 0 Golgi stack membrane NA PE5 15 +NX_A6NC86 204 21926 8.37 0 Cytoplasmic vesicle;Secreted NA PE1 19 +NX_A6NC97 362 41969 8.59 1 Membrane NA PE5 3 +NX_A6NC98 1476 164809 5.09 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Microtubule organizing center;Cytosol;Membrane;Centrosome NA PE1 11 +NX_A6NCC3 632 71536 5.98 0 NA NA PE1 15 +NX_A6NCE7 125 14628 8.73 0 Autophagosome membrane;Cytoskeleton;Endomembrane system NA PE2 12 +NX_A6NCF5 533 57810 6.98 0 NA NA PE2 14 +NX_A6NCF6 341 37899 5.98 0 NA NA PE5 X +NX_A6NCI4 1184 134020 8.74 0 Secreted NA PE2 16 +NX_A6NCI5 91 10419 6.94 1 Membrane NA PE5 1 +NX_A6NCI8 922 100170 9.12 0 NA NA PE2 2 +NX_A6NCJ1 209 24176 9.14 0 Cytosol;Endoplasmic reticulum;Cell membrane NA PE1 19 +NX_A6NCK2 446 52310 8.07 0 NA NA PE3 2 +NX_A6NCL1 334 37887 5.79 0 Nucleus NA PE1 3 +NX_A6NCL2 159 17834 8.55 0 NA NA PE1 12 +NX_A6NCL7 494 53975 8.27 0 Mitochondrion NA PE1 5 +NX_A6NCM1 818 95061 9.22 0 NA NA PE1 7 +NX_A6NCN2 255 29117 5.64 0 NA NA PE5 12 +NX_A6NCN8 305 35334 10.17 0 NA NA PE1 12 +NX_A6NCQ9 220 23767 9.08 1 Membrane NA PE1 17 +NX_A6NCS4 301 32121 9.91 0 Nucleus Conotruncal heart malformations PE1 8 +NX_A6NCS6 295 30481 8.73 0 Nucleus;Cell membrane NA PE1 2 +NX_A6NCV1 312 35253 8.95 7 Cell membrane NA PE2 12 +NX_A6NCW0 530 59536 7.83 0 Nucleus;Endoplasmic reticulum NA PE3 8 +NX_A6NCW3 169 18250 7.7 0 NA NA PE5 1 +NX_A6NCW7 530 59636 7.1 0 Nucleus;Endoplasmic reticulum NA PE3 8 +NX_A6ND01 250 28672 5.88 0 Cell membrane NA PE1 11 +NX_A6ND36 823 90835 5.97 0 Cytosol;Nucleus NA PE1 17 +NX_A6ND48 311 35175 8.89 7 Cell membrane NA PE2 1 +NX_A6ND91 283 29946 6.79 0 NA NA PE1 19 +NX_A6NDA9 550 60168 5.65 1 Membrane NA PE1 10 +NX_A6NDB9 673 71695 4.53 0 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA PE1 19 +NX_A6NDD5 238 25796 4.55 2 cis-Golgi network;Membrane NA PE2 14 +NX_A6NDE4 496 55835 9.96 0 Nucleus NA PE2 Y +NX_A6NDE8 117 12924 4.33 0 NA NA PE2 X +NX_A6NDG6 321 34006 5.85 0 Nucleus NA PE1 16 +NX_A6NDH6 313 35352 8.77 7 Cell membrane NA PE3 3 +NX_A6NDI0 452 52747 7.06 0 NA NA PE2 11 +NX_A6NDK9 693 79884 5.31 0 NA NA PE1 15 +NX_A6NDL7 271 31188 5.73 0 NA NA PE5 13 +NX_A6NDL8 312 35296 9.01 7 Cell membrane NA PE3 12 +NX_A6NDN3 693 79913 5.4 0 NA NA PE3 15 +NX_A6NDN8 102 10909 8.84 0 NA NA PE4 11 +NX_A6NDP7 307 32967 8.82 7 Membrane NA PE2 17 +NX_A6NDR6 274 30204 4.84 0 Nucleus NA PE5 17 +NX_A6NDS4 549 62320 9.25 0 Cell membrane NA PE2 17 +NX_A6NDU8 294 33620 5.15 0 Cytosol;Nucleoplasm NA PE1 5 +NX_A6NDV4 472 51941 8.35 7 Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleus;Cell membrane;Mitochondrion NA PE1 9 +NX_A6NDX4 124 13671 8.96 1 Membrane NA PE5 15 +NX_A6NDX5 716 83235 9.69 0 Nucleus NA PE5 20 +NX_A6NDY0 278 30386 4.84 0 Cytoplasm NA PE2 16 +NX_A6NDY2 464 49635 9.76 0 NA NA PE5 8 +NX_A6NDZ8 208 23121 11.45 0 NA NA PE5 19 +NX_A6NE01 2351 262758 8.66 0 NA NA PE1 12 +NX_A6NE02 478 52471 8.91 0 Secreted NA PE1 17 +NX_A6NE21 464 49680 9.93 0 NA NA PE5 8 +NX_A6NE52 1622 180307 7.56 0 NA NA PE1 8 +NX_A6NE82 208 23095 11.45 0 NA NA PE5 19 +NX_A6NEC2 478 53747 5.17 0 NA NA PE1 17 +NX_A6NED2 376 40079 5.18 0 Cytosol;Cell membrane;Chromosome NA PE1 15 +NX_A6NEE1 506 59203 6.1 0 NA NA PE1 14 +NX_A6NEF3 574 67563 4.81 0 NA NA PE3 15 +NX_A6NEH6 219 25168 5.51 2 Membrane NA PE1 2 +NX_A6NEH8 195 20902 11.72 0 NA NA PE5 10 +NX_A6NEK1 342 38383 6.22 0 NA NA PE1 19 +NX_A6NEL2 793 85742 9.64 0 Nucleolus NA PE1 4 +NX_A6NEL3 165 18478 8.19 0 NA NA PE5 11 +NX_A6NEM1 432 49193 5.08 0 NA NA PE2 15 +NX_A6NEN9 183 21305 10.33 0 NA NA PE1 X +NX_A6NEQ0 496 55759 9.95 0 Nucleus NA PE2 Y +NX_A6NEQ2 426 42657 5.39 0 Mitochondrion;Nucleus membrane NA PE2 11 +NX_A6NER0 549 62185 9.24 0 Cell membrane NA PE2 17 +NX_A6NER3 117 12896 4.22 0 NA NA PE1 X +NX_A6NES4 1674 189561 6.23 0 Cytosol NA PE1 2 +NX_A6NET4 321 36711 8.32 7 Cell membrane NA PE3 3 +NX_A6NEV1 266 28155 4.57 0 NA NA PE3 3 +NX_A6NEW6 464 49759 9.95 0 NA NA PE5 8 +NX_A6NEY3 463 55643 4.81 0 NA NA PE5 15 +NX_A6NEY8 169 18658 5.82 0 NA NA PE5 2 +NX_A6NF01 834 83015 9.95 0 Nuclear pore complex NA PE5 7 +NX_A6NF34 631 70629 8.78 1 Membrane NA PE1 10 +NX_A6NF36 153 17536 6.19 0 NA NA PE1 17 +NX_A6NF83 97 11356 10.5 0 Nucleus NA PE1 7 +NX_A6NF89 314 35963 8.98 7 Cell membrane NA PE3 12 +NX_A6NFA0 338 37613 8.24 1 Membrane NA PE1 9 +NX_A6NFA1 517 57421 6.19 1 Cell membrane NA PE1 1 +NX_A6NFC5 223 23360 5.56 3 Endoplasmic reticulum;Membrane NA PE2 17 +NX_A6NFC9 320 35528 6.35 4 Cell membrane NA PE5 1 +NX_A6NFD8 242 26913 9.39 0 Nucleus NA PE2 4 +NX_A6NFE2 343 39487 4.74 1 Membrane NA PE2 12 +NX_A6NFE3 127 14721 5.28 0 NA NA PE1 7 +NX_A6NFF2 107 12045 6.13 0 NA NA PE5 X +NX_A6NFH5 140 15565 7.71 0 NA NA PE1 8 +NX_A6NFI3 1004 108437 5.18 0 Nucleus NA PE1 7 +NX_A6NFK2 248 28284 6.26 0 Stereocilium Deafness, autosomal recessive, 101 PE3 5 +NX_A6NFN3 312 33873 6.71 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 17 +NX_A6NFN9 502 56600 9.29 0 NA NA PE2 3 +NX_A6NFQ2 919 100906 6.75 0 Cell junction;Cell membrane NA PE1 7 +NX_A6NFQ7 191 21648 9.55 0 Nucleus NA PE3 19 +NX_A6NFR6 353 39250 9.54 1 Membrane NA PE1 5 +NX_A6NFT4 308 35914 7.01 0 Cytoplasmic vesicle;Nucleolus;Nucleus;Cilium axoneme NA PE1 12 +NX_A6NFU0 413 47349 8.23 1 Membrane NA PE1 17 +NX_A6NFU8 196 21631 8.26 0 NA NA PE2 15 +NX_A6NFX1 504 53743 9.1 10 Cell membrane NA PE1 2 +NX_A6NFY4 417 48664 8.63 5 Nucleoplasm;Nucleus inner membrane NA PE1 2 +NX_A6NFY7 115 12806 11.39 0 Mitochondrion;Mitochondrion matrix Mitochondrial complex II deficiency PE1 19 +NX_A6NFZ4 105 11258 8.08 0 Secreted NA PE1 10 +NX_A6NG13 374 43743 9.62 1 Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE2 4 +NX_A6NGA9 273 31353 8.84 4 Membrane NA PE2 15 +NX_A6NGB0 347 39292 8.72 1 Membrane NA PE3 22 +NX_A6NGB7 291 30293 8.62 4 Nucleus membrane;Membrane NA PE1 19 +NX_A6NGB9 483 49458 10.16 0 Mitochondrion;Cytoplasm NA PE1 7 +NX_A6NGC4 264 28733 10.14 6 Cytoplasmic vesicle;Nucleolus;Membrane NA PE1 17 +NX_A6NGD5 496 55729 8.32 0 Nucleus NA PE5 19 +NX_A6NGE4 600 67373 4.75 0 NA NA PE1 X +NX_A6NGE7 173 19130 5.78 0 Peroxisome NA PE5 13 +NX_A6NGG3 77 8520 9.6 0 NA NA PE4 9 +NX_A6NGG8 1288 139655 8.4 0 Photoreceptor inner segment;Photoreceptor outer segment Retinitis pigmentosa 54 PE1 2 +NX_A6NGH7 325 38277 5.35 0 NA NA PE1 X +NX_A6NGH8 418 46141 9.1 0 NA NA PE2 7 +NX_A6NGJ6 449 51566 5.01 0 NA NA PE2 11 +NX_A6NGK3 116 12651 4.3 0 NA NA PE1 X +NX_A6NGN4 478 55354 8.95 0 NA NA PE3 1 +NX_A6NGN9 336 36795 6.96 0 Nucleus;Secreted NA PE1 19 +NX_A6NGQ2 149 17170 6.59 0 Cytoplasm NA PE1 6 +NX_A6NGR9 719 77186 9.88 0 Nucleus NA PE1 8 +NX_A6NGS2 130 14477 4.26 0 Nucleoplasm;Cytosol NA PE1 19 +NX_A6NGU5 568 61502 6.68 1 Membrane NA PE5 22 +NX_A6NGU7 62 7222 10.44 0 NA NA PE5 X +NX_A6NGW2 1772 192437 5.26 0 Secreted NA PE5 15 +NX_A6NGY1 282 30798 7.09 0 Nucleus NA PE3 3 +NX_A6NGY3 159 17908 10.21 0 NA NA PE1 5 +NX_A6NGY5 319 35849 8.3 7 Cell membrane NA PE3 11 +NX_A6NGZ8 99 10777 8.46 1 Cell membrane NA PE3 X +NX_A6NH00 312 34659 8.66 7 Cell membrane NA PE3 1 +NX_A6NH11 291 31642 10.19 0 Cytoplasmic vesicle NA PE1 17 +NX_A6NH13 148 15587 9.94 0 NA NA PE2 10 +NX_A6NH21 518 56870 8.75 10 Membrane NA PE2 15 +NX_A6NH52 213 24111 6.51 4 Cytoplasmic vesicle;Membrane NA PE2 16 +NX_A6NH57 179 20591 5.44 0 NA NA PE3 17 +NX_A6NHA9 309 34533 8.19 7 Cell membrane NA PE3 11 +NX_A6NHC0 703 79144 5.1 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus membrane;Golgi apparatus NA PE1 1 +NX_A6NHG4 134 14195 5.89 0 Cytoplasm NA PE2 22 +NX_A6NHG9 310 35099 8.72 7 Cell membrane NA PE2 3 +NX_A6NHJ4 632 73757 9.46 0 Nucleolus;Nucleus NA PE1 3 +NX_A6NHL2 446 49909 5.68 0 Cytoskeleton NA PE1 10 +NX_A6NHM9 499 56320 4.65 0 NA NA PE5 7 +NX_A6NHN0 477 49422 8.6 0 Extracellular matrix NA PE3 3 +NX_A6NHN6 443 51267 10.5 0 Secreted NA PE2 16 +NX_A6NHP3 402 48290 9.78 0 NA NA PE3 7 +NX_A6NHQ2 334 34803 10.35 0 Nucleolus NA PE1 5 +NX_A6NHQ4 379 39322 9.77 0 Cytosol;Nucleoplasm;Nucleus;Chromosome NA PE1 17 +NX_A6NHR8 397 46757 9.11 0 NA NA PE5 X +NX_A6NHR9 2005 226374 6.95 0 Nucleoplasm;Nucleus;Chromosome Bosma arhinia microphthalmia syndrome;Facioscapulohumeral muscular dystrophy 2 PE1 18 +NX_A6NHS1 94 10211 4.1 0 NA NA PE5 11 +NX_A6NHS7 340 37879 8.33 1 Membrane NA PE3 12 +NX_A6NHT5 357 37825 7.85 0 Nucleus;Microtubule organizing center NA PE1 10 +NX_A6NHX0 329 36056 5.02 0 Cytosol NA PE1 7 +NX_A6NHY2 528 59088 8.33 0 NA NA PE4 5 +NX_A6NHY6 69 7904 8.42 0 NA NA PE4 9 +NX_A6NHZ5 514 56758 6.74 0 NA NA PE1 5 +NX_A6NI03 449 51557 5.1 0 NA NA PE5 11 +NX_A6NI15 193 20778 9.03 0 Nucleus NA PE3 2 +NX_A6NI28 874 98569 8.18 0 Cytosol;Nucleus speckle NA PE1 11 +NX_A6NI47 508 57067 6.64 0 NA NA PE3 14 +NX_A6NI56 674 76013 8.62 0 Golgi apparatus;Cell membrane;Early endosome NA PE1 16 +NX_A6NI61 221 24699 8.98 6 Cell membrane Carey-Fineman-Ziter syndrome PE1 9 +NX_A6NI72 391 44817 9.2 0 Cytoplasm NA PE5 7 +NX_A6NI73 299 32755 6.5 1 Cell membrane;Secreted NA PE1 19 +NX_A6NI79 296 34796 5.57 0 Cell membrane;Cytoskeleton;Midbody;Golgi apparatus;Spindle NA PE1 5 +NX_A6NI86 522 60902 4.83 0 NA NA PE3 15 +NX_A6NI87 242 27343 10.65 0 NA NA PE1 5 +NX_A6NIE6 340 38035 5.02 0 NA NA PE5 16 +NX_A6NIE9 313 34063 6.58 0 Secreted NA PE5 16 +NX_A6NIH7 251 28137 5.45 0 Cilium NA PE1 12 +NX_A6NIJ5 464 50026 9.93 0 NA NA PE5 8 +NX_A6NIJ9 312 35468 9.17 7 Cell membrane NA PE3 12 +NX_A6NIK2 292 32714 6.88 0 Nucleoplasm;Nucleolus NA PE2 11 +NX_A6NIL9 109 12312 8.89 1 Membrane NA PE5 16 +NX_A6NIM6 579 65263 7.77 11 Membrane NA PE1 12 +NX_A6NIN4 190 21006 9.23 0 NA NA PE2 17 +NX_A6NIR3 686 75492 6.28 0 NA NA PE2 10 +NX_A6NIU2 74 8470 4.97 0 NA NA PE5 21 +NX_A6NIV6 560 63977 8.43 0 NA NA PE1 3 +NX_A6NIX2 430 45124 8.53 0 Adherens junction;P-body;Nucleus NA PE1 19 +NX_A6NIY4 402 47997 9.98 0 NA NA PE3 7 +NX_A6NIZ1 184 20925 5.37 0 Cytosol;Cell membrane NA PE2 5 +NX_A6NJ08 208 22976 11.47 0 NA NA PE5 19 +NX_A6NJ46 265 28948 9.3 0 Nucleus NA PE2 8 +NX_A6NJ64 397 45575 9.95 0 Nucleus NA PE5 16 +NX_A6NJ69 53 5937 9.13 0 Cytoplasmic vesicle;Secreted NA PE2 5 +NX_A6NJ78 407 46121 8.8 0 Cytoskeleton;Cell membrane;Golgi apparatus NA PE1 11 +NX_A6NJ88 616 69022 5.68 0 NA NA PE5 X +NX_A6NJB7 356 38716 10.48 0 Nucleolus;Nucleus NA PE1 19 +NX_A6NJG2 315 33803 9.62 0 NA NA PE1 X +NX_A6NJG6 315 35617 6.84 0 Nucleus NA PE2 3 +NX_A6NJI1 115 13172 11.47 0 NA NA PE2 11 +NX_A6NJI9 287 33656 8.92 0 NA NA PE1 7 +NX_A6NJJ6 358 39779 4.78 0 NA NA PE3 19 +NX_A6NJL1 495 55826 8.88 0 Nucleus NA PE1 19 +NX_A6NJQ4 464 49661 9.91 0 NA NA PE5 8 +NX_A6NJR5 290 34699 5.99 0 NA NA PE5 7 +NX_A6NJT0 531 53690 6.74 0 Nucleoplasm;Nucleus NA PE1 7 +NX_A6NJU9 1138 125964 9.9 1 Membrane NA PE3 16 +NX_A6NJV1 201 23421 10 0 Cytoplasmic vesicle;Nucleus membrane NA PE1 2 +NX_A6NJW4 275 29314 6.15 1 Membrane NA PE2 17 +NX_A6NJW9 211 23768 9.88 1 Cell membrane NA PE5 2 +NX_A6NJY1 282 30828 7.66 7 Membrane NA PE5 Y +NX_A6NJY4 79 8713 4.43 2 Membrane NA PE5 17 +NX_A6NJZ3 312 35198 8.87 7 Cell membrane NA PE2 12 +NX_A6NJZ7 1639 180950 6.34 0 Cytoskeleton NA PE1 22 +NX_A6NK02 468 53678 7.79 0 NA NA PE5 4 +NX_A6NK06 481 52628 7.01 0 Mitochondrion NA PE1 13 +NX_A6NK44 160 18322 7.7 0 Mitochondrion NA PE1 X +NX_A6NK53 670 76861 8.61 0 Nucleoplasm;Nucleus NA PE2 19 +NX_A6NK58 231 25195 8.63 0 Mitochondrion;Cytoplasmic vesicle;Centrosome Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities PE1 11 +NX_A6NK59 587 65331 6.24 0 NA NA PE2 3 +NX_A6NK75 572 65799 9.33 0 Nucleus NA PE1 19 +NX_A6NK89 507 56900 5.29 0 Cytosol;Cytoplasmic vesicle;Centrosome;Spindle pole NA PE1 11 +NX_A6NK97 555 60459 8.63 11 Membrane NA PE2 11 +NX_A6NKB5 2137 237277 6.29 15 Endoplasmic reticulum;Membrane NA PE2 1 +NX_A6NKC0 464 49804 9.88 0 NA NA PE5 8 +NX_A6NKC9 451 49807 5.99 0 NA NA PE4 15 +NX_A6NKD2 308 35100 5.3 0 NA NA PE2 Y +NX_A6NKD9 419 45210 6.48 0 Nucleus speckle;Cell junction;Tight junction NA PE1 14 +NX_A6NKF1 404 43553 9.04 0 Cytosol;Spindle;Centrosome NA PE1 11 +NX_A6NKF2 412 44073 5.34 0 Nucleus NA PE3 9 +NX_A6NKF7 163 17097 8.53 2 Membrane NA PE1 1 +NX_A6NKG5 1358 155048 5.09 2 Cytosol;Membrane NA PE1 14 +NX_A6NKH3 93 10583 10.22 0 NA NA PE5 11 +NX_A6NKK0 313 35387 8.8 7 Cell membrane NA PE2 3 +NX_A6NKL6 621 63928 10.1 2 Cytoskeleton;Membrane NA PE1 18 +NX_A6NKN8 68 7476 6.28 0 Mitochondrion;Nucleoplasm NA PE1 1 +NX_A6NKP2 422 46869 9.66 0 NA NA PE3 16 +NX_A6NKQ9 187 20468 9.02 0 Secreted NA PE2 19 +NX_A6NKT7 1758 197487 5.95 0 NA NA PE1 2 +NX_A6NKU9 549 63895 6.06 0 NA NA PE2 7 +NX_A6NKW6 160 17663 5.88 1 Membrane NA PE3 5 +NX_A6NKX1 122 13778 10.05 0 NA NA PE3 X +NX_A6NKX4 556 58815 9.89 12 Membrane NA PE2 16 +NX_A6NL05 159 18299 9.63 1 Membrane NA PE3 9 +NX_A6NL08 312 35372 9.29 7 Cell membrane NA PE3 12 +NX_A6NL26 309 34174 6.73 7 Cell membrane NA PE3 11 +NX_A6NL46 340 37797 10.95 0 NA NA PE3 6 +NX_A6NL82 134 15996 8.67 0 NA NA PE1 1 +NX_A6NL88 538 56214 10.06 1 Postsynaptic density NA PE1 19 +NX_A6NL99 342 37357 7.83 8 Membrane NA PE5 9 +NX_A6NLC5 250 27769 4.85 0 Cytosol NA PE1 3 +NX_A6NLC8 198 21962 5.72 0 NA NA PE1 5 +NX_A6NLE4 172 20025 4.76 1 Cell membrane NA PE2 5 +NX_A6NLF2 546 59772 9.86 0 Nucleus NA PE3 18 +NX_A6NLI5 450 51540 5.3 0 NA NA PE3 11 +NX_A6NLJ0 364 38769 11.07 0 Nucleus NA PE1 15 +NX_A6NLP5 189 20896 5.02 0 Nucleoplasm NA PE1 11 +NX_A6NLU0 287 32238 7.89 0 Cytoplasm;Nucleus NA PE1 19 +NX_A6NLU5 285 30297 7.88 1 Membrane NA PE1 19 +NX_A6NLW8 204 23817 9.51 0 Nucleus NA PE3 19 +NX_A6NLX3 237 27806 4.93 0 NA NA PE2 17 +NX_A6NLX4 147 15516 4.19 1 Membrane NA PE1 9 +NX_A6NM03 316 35270 8.79 7 Cell membrane NA PE2 11 +NX_A6NM10 295 31475 8.18 6 Membrane NA PE2 2 +NX_A6NM11 1700 188393 5.33 1 Membrane NA PE1 17 +NX_A6NM28 416 45791 10.23 0 Nucleus NA PE1 X +NX_A6NM36 301 34034 9.48 0 NA NA PE4 18 +NX_A6NM43 557 59514 5.91 0 Cytoplasm NA PE5 7 +NX_A6NM45 220 24421 4.87 4 Cell membrane;Tight junction NA PE5 4 +NX_A6NM62 1247 140742 8.11 1 Membrane NA PE4 1 +NX_A6NM66 108 11668 8.23 0 NA NA PE4 21 +NX_A6NM76 312 35119 9.04 7 Cell membrane NA PE3 12 +NX_A6NMA1 111 12326 3.47 0 NA NA PE1 X +NX_A6NMB1 481 52992 9.28 1 Membrane NA PE2 19 +NX_A6NMB9 653 66603 6.3 0 NA NA PE5 12 +NX_A6NMD0 228 24599 6.59 2 Cell membrane NA PE1 11 +NX_A6NMD2 632 71775 8.5 0 NA NA PE3 15 +NX_A6NMK7 179 20727 8.93 0 NA NA PE2 17 +NX_A6NMK8 535 59204 8.39 0 NA NA PE1 5 +NX_A6NML5 194 21425 8.15 5 Nucleolus;Endoplasmic reticulum;Membrane NA PE2 3 +NX_A6NMN3 283 32092 4.67 0 Acrosome outer membrane;Acrosome NA PE1 10 +NX_A6NMS3 321 36711 8.44 7 Cell membrane NA PE3 3 +NX_A6NMS7 1700 188258 5.32 1 Membrane NA PE1 17 +NX_A6NMT0 343 37283 9.54 0 Nucleus NA PE3 11 +NX_A6NMU1 304 34901 8.28 7 Cell membrane NA PE2 11 +NX_A6NMX2 242 27596 6.68 0 NA NA PE1 5 +NX_A6NMY6 339 38659 6.49 0 Basement membrane;Melanosome NA PE5 9 +NX_A6NMZ2 147 16468 8.43 0 Cilium NA PE1 3 +NX_A6NMZ5 311 35341 7.99 7 Cell membrane NA PE3 11 +NX_A6NMZ7 2263 247173 6.44 0 Extracellular matrix NA PE1 3 +NX_A6NN06 94 10596 11.9 0 NA NA PE5 9 +NX_A6NN14 1252 145022 9.58 0 Nucleus NA PE2 19 +NX_A6NN73 597 67128 8.72 0 NA NA PE3 15 +NX_A6NN90 582 63239 5.44 0 Nucleolus;Nucleus NA PE1 2 +NX_A6NN92 205 23755 8.68 4 Cell membrane NA PE5 6 +NX_A6NNA2 597 65249 11.68 0 Cytoskeleton;Cell membrane NA PE2 7 +NX_A6NNA5 263 28672 8.74 0 Cytosol;Nucleolus;Nucleus NA PE3 10 +NX_A6NNB3 132 14378 8.48 2 Cell membrane Osteogenesis imperfecta 5 PE1 11 +NX_A6NNC1 897 94058 10.28 1 Membrane NA PE5 5 +NX_A6NND4 320 35503 6.21 7 Cell membrane NA PE2 11 +NX_A6NNE9 402 43878 6.47 2 Cytoplasmic vesicle membrane NA PE1 5 +NX_A6NNF4 738 85539 9.27 0 Nucleus NA PE1 19 +NX_A6NNH2 459 49646 9.97 0 NA NA PE1 19 +NX_A6NNJ1 464 49738 9.91 0 NA NA PE5 8 +NX_A6NNL0 878 93984 8.12 0 NA NA PE3 10 +NX_A6NNL5 157 18091 9.9 0 Cytosol;Cytoplasmic vesicle;Nucleolus;Secreted NA PE1 15 +NX_A6NNM3 1639 180952 6.34 0 Cytoskeleton NA PE2 22 +NX_A6NNM8 815 93645 9.12 0 NA NA PE1 15 +NX_A6NNN8 435 46731 7.42 11 Membrane Foveal hypoplasia 2 PE1 16 +NX_A6NNP5 214 25253 9.33 0 NA NA PE2 13 +NX_A6NNS2 312 34878 8.72 0 Secreted NA PE1 17 +NX_A6NNT2 1141 125041 6.58 0 NA NA PE1 16 +NX_A6NNV3 312 37499 8.38 0 NA NA PE5 7 +NX_A6NNW6 625 68465 5.64 0 NA NA PE1 10 +NX_A6NNX1 92 10810 9.57 0 Cytosol;Nucleoplasm NA PE1 1 +NX_A6NNY8 438 49630 6.75 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytosol Mental retardation, X-linked 105 PE1 X +NX_A6NNZ2 444 49573 4.75 0 Cytoskeleton NA PE1 18 +NX_A6NP11 495 57006 9.34 0 Nucleus NA PE2 7 +NX_A6NP61 321 36010 9.27 0 NA NA PE1 13 +NX_A6PVC2 850 94676 8.55 0 Cytoskeleton;Cilium;Cilium axoneme NA PE2 22 +NX_A6PVI3 153 17685 6.89 0 NA NA PE3 X +NX_A6PVL3 124 12832 9.51 2 Membrane NA PE2 1 +NX_A6PVS8 624 73675 9.73 0 Cell membrane NA PE1 1 +NX_A6PVY3 158 18145 4.84 0 NA NA PE2 1 +NX_A6QL63 1104 120884 6.36 1 Nucleoplasm;Membrane NA PE1 12 +NX_A6QL64 1941 217465 8.84 0 NA NA PE1 2 +NX_A6XGL0 299 32585 5.75 0 Mitochondrion NA PE1 19 +NX_A6ZKI3 113 13171 4.94 0 NA NA PE1 X +NX_A7E2F4 631 70117 5.89 0 Golgi stack membrane NA PE2 15 +NX_A7E2S9 258 28549 7.05 0 NA NA PE1 2 +NX_A7E2U8 309 34376 9.64 0 Cytoplasmic vesicle;Centrosome NA PE1 4 +NX_A7E2V4 1837 197297 6.35 0 Cytosol;Cell membrane NA PE1 10 +NX_A7E2Y1 1983 225845 5.81 0 Membrane NA PE1 20 +NX_A7KAX9 2087 230529 6.27 0 Endoplasmic reticulum membrane;Nucleolus;Golgi apparatus;Nucleoplasm;Cell cortex;Endosome membrane;Golgi apparatus membrane;Dendritic spine;Membrane;Postsynaptic density NA PE1 11 +NX_A7MBM2 1401 152003 8.18 12 Cytoplasmic vesicle;Nucleoplasm;Membrane NA PE1 15 +NX_A7MCY6 615 67702 5.62 0 Nucleoplasm NA PE1 17 +NX_A7MD48 611 68559 11.75 0 Nucleus NA PE1 12 +NX_A7XYQ1 873 92658 7.77 0 Nucleoplasm;Cytoplasmic vesicle Mental retardation, anterior maxillary protrusion, and strabismus PE1 6 +NX_A8CG34 1229 125092 10.38 1 Endoplasmic reticulum membrane;Nuclear pore complex;Nucleus membrane NA PE1 7 +NX_A8K010 186 21118 10.18 0 NA NA PE5 6 +NX_A8K0R7 811 87484 6.11 0 Nucleoplasm;Cytoplasm;Cell membrane NA PE1 14 +NX_A8K0S8 358 39220 4.89 0 Nucleus NA PE2 17 +NX_A8K0Z3 465 50328 5.49 0 Centriole;Early endosome membrane;Recycling endosome membrane;Late endosome;Autophagosome NA PE1 9 +NX_A8K2U0 1454 161107 5.5 0 Secreted Otitis media PE1 12 +NX_A8K4G0 201 22689 6.83 1 Cell membrane NA PE1 17 +NX_A8K554 130 15437 6.04 0 NA NA PE5 7 +NX_A8K5M9 175 19679 8.66 0 Mitochondrion NA PE1 15 +NX_A8K7I4 914 100226 5.97 0 Extracellular space;Cell membrane NA PE1 1 +NX_A8K830 154 16850 4.27 0 Cytoplasm NA PE2 11 +NX_A8K855 629 71981 6.01 0 Cytosol;Cilium membrane;Nucleolus;Nucleus;Cell membrane NA PE1 1 +NX_A8K8P3 1242 147664 10.82 0 Centriole NA PE1 22 +NX_A8K8V0 405 46168 9.28 0 Nucleoplasm;Nucleus;Cell membrane NA PE1 16 +NX_A8K979 691 77401 9.12 0 Nucleus;Golgi apparatus NA PE1 16 +NX_A8MPP1 907 101811 7.28 0 Nucleolus NA PE1 12 +NX_A8MPS7 323 34466 5.96 0 Nucleoplasm NA PE1 22 +NX_A8MPX8 630 71643 8.93 0 Nucleoplasm;Cytoskeleton NA PE2 3 +NX_A8MPY1 467 54272 8.33 4 Postsynaptic cell membrane;Cell membrane NA PE3 3 +NX_A8MQ03 144 15313 6.67 0 Cytoplasmic vesicle;Nucleus speckle;Midbody;Endoplasmic reticulum NA PE1 9 +NX_A8MQ11 134 15170 10.61 0 NA NA PE5 7 +NX_A8MQ14 1090 125431 9.02 0 Nucleoplasm;Nucleus NA PE1 19 +NX_A8MQ27 555 59270 8.76 0 Cytoplasmic vesicle;Cytoplasm NA PE1 5 +NX_A8MQB3 221 24325 9.82 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 17 +NX_A8MQT2 603 67278 6.46 0 Golgi stack membrane NA PE2 15 +NX_A8MRT5 1133 126459 10.12 1 Membrane NA PE2 16 +NX_A8MSI8 78 9374 9.69 0 NA NA PE1 17 +NX_A8MT19 583 65945 6.51 0 NA NA PE5 15 +NX_A8MT33 242 27397 4.99 0 Cytoskeleton NA PE1 16 +NX_A8MT65 544 63592 9.01 0 Nucleus NA PE2 12 +NX_A8MT66 165 19292 6.16 0 NA NA PE5 21 +NX_A8MT69 81 8959 5.59 0 Kinetochore;Centromere;Nucleus NA PE1 17 +NX_A8MT70 800 91426 5.43 0 NA NA PE1 3 +NX_A8MTA8 275 30575 8.38 0 NA NA PE1 9 +NX_A8MTB9 384 43320 5.94 0 Midbody NA PE2 19 +NX_A8MTI9 375 41188 9 0 Secreted NA PE5 9 +NX_A8MTJ3 354 40357 5.69 0 Cytoplasm NA PE1 7 +NX_A8MTJ6 420 43326 8.51 0 Nucleus NA PE1 2 +NX_A8MTL0 148 18048 10.05 0 NA NA PE1 3 +NX_A8MTL3 300 33570 9.78 0 NA NA PE1 14 +NX_A8MTL9 139 15355 5.27 0 Secreted NA PE2 18 +NX_A8MTQ0 251 27003 9.43 0 Nucleus NA PE2 2 +NX_A8MTT3 80 9336 9.7 1 Nucleoplasm;Mitochondrion membrane NA PE1 2 +NX_A8MTW9 85 8750 10.5 0 Secreted NA PE5 2 +NX_A8MTY0 619 71172 9.29 0 Nucleus NA PE1 19 +NX_A8MTY7 169 17793 8.01 0 NA NA PE1 17 +NX_A8MTZ0 92 10506 9.42 0 Cytoplasm;Cilium Bardet-Biedl syndrome 18 PE1 10 +NX_A8MTZ7 269 30355 5.21 0 NA NA PE1 12 +NX_A8MU10 97 10262 9.79 0 NA NA PE4 17 +NX_A8MU46 457 48953 4.7 0 I band;Nucleus;M line;Myofibril NA PE1 11 +NX_A8MU76 341 37608 10.73 0 NA NA PE3 16 +NX_A8MU93 118 13000 11.57 0 Cytosol;Cytoskeleton;Nucleus NA PE1 17 +NX_A8MUA0 341 37841 10.75 0 NA NA PE3 2 +NX_A8MUH7 402 44056 5.4 0 NA NA PE5 1 +NX_A8MUI8 341 37626 9.9 0 NA NA PE3 1 +NX_A8MUK1 530 59683 8.35 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_A8MUL3 147 15836 7.71 0 NA NA PE5 10 +NX_A8MUM7 142 16576 5.53 0 NA NA PE2 19 +NX_A8MUN3 132 14205 9.1 0 Secreted NA PE5 17 +NX_A8MUP2 240 25910 5.51 0 Mitochondrion NA PE1 11 +NX_A8MUP6 293 32443 6.3 4 Membrane NA PE3 17 +NX_A8MUU1 101 11299 7.66 0 NA NA PE5 7 +NX_A8MUU9 505 55306 13.3 0 NA NA PE5 22 +NX_A8MUV8 499 57972 9.3 0 Nucleus NA PE5 7 +NX_A8MUX0 517 53912 5.37 0 NA NA PE1 17 +NX_A8MUZ8 300 34765 9.37 0 Nucleus NA PE2 8 +NX_A8MV23 424 46963 6.7 0 Secreted NA PE1 13 +NX_A8MV24 154 17565 9.8 0 Cytoskeleton;Nucleolus NA PE1 17 +NX_A8MV57 137 15138 5.89 0 NA NA PE5 1 +NX_A8MV65 326 36009 5.9 0 Cytosol;Nucleolus;Nucleus NA PE1 3 +NX_A8MV72 311 34164 10.58 0 NA NA PE5 8 +NX_A8MV81 97 11079 9.72 2 Membrane NA PE3 12 +NX_A8MVA2 160 16800 7.95 0 NA NA PE1 17 +NX_A8MVJ9 347 39722 8.28 0 NA NA PE5 9 +NX_A8MVM7 634 73452 9.81 0 NA NA PE5 4 +NX_A8MVS1 300 34857 9.31 0 Nucleus NA PE3 8 +NX_A8MVS5 230 24753 6.82 1 Cytosol;Golgi apparatus;Cell membrane;Membrane NA PE1 19 +NX_A8MVU1 366 41851 8.95 0 Cytoplasm NA PE5 7 +NX_A8MVW0 826 87435 8.14 1 Membrane NA PE1 17 +NX_A8MVW5 462 51407 6.09 1 Spindle;Golgi apparatus membrane;Midbody;Centrosome NA PE1 7 +NX_A8MVX0 844 94633 6.37 0 Cytoplasmic vesicle NA PE2 2 +NX_A8MVZ5 291 32612 8.7 1 Membrane NA PE5 1 +NX_A8MW92 1017 115010 6.39 0 Nucleoplasm;Cell membrane NA PE1 8 +NX_A8MW95 431 48153 4.78 0 Cytoplasm NA PE1 1 +NX_A8MW99 385 44024 5.82 0 Chromosome NA PE3 6 +NX_A8MWA4 300 34697 9.01 0 Nucleus NA PE3 11 +NX_A8MWA6 464 49874 9.86 0 NA NA PE5 8 +NX_A8MWD9 76 8544 8.93 0 Nucleus NA PE5 19 +NX_A8MWE9 144 16428 5.04 0 NA NA PE4 20 +NX_A8MWK0 482 56358 8.02 4 Endoplasmic reticulum membrane NA PE5 11 +NX_A8MWL6 223 24647 4.38 4 Membrane NA PE5 15 +NX_A8MWL7 114 12177 9.57 4 Membrane NA PE5 10 +NX_A8MWP4 228 24535 9.77 0 NA NA PE5 21 +NX_A8MWP6 167 18109 5.64 0 NA NA PE2 17 +NX_A8MWV9 139 15007 8.6 1 Membrane NA PE2 21 +NX_A8MWX3 477 51595 6.24 0 Early endosome membrane;Recycling endosome membrane NA PE5 16 +NX_A8MWY0 1029 113842 5.75 1 Endoplasmic reticulum;Membrane NA PE1 7 +NX_A8MX19 464 49786 9.98 0 NA NA PE5 8 +NX_A8MX34 341 35211 5.89 0 NA NA PE3 17 +NX_A8MX76 684 79568 8.86 0 NA NA PE1 2 +NX_A8MX80 341 37634 10.46 0 NA NA PE3 13 +NX_A8MXD5 290 32294 7.48 0 Microvillus;Kinocilium;Stereocilium Deafness, autosomal recessive, 25 PE1 4 +NX_A8MXE2 369 42761 7.08 1 Golgi apparatus membrane NA PE5 9 +NX_A8MXJ8 464 49840 9.86 0 NA NA PE5 8 +NX_A8MXK1 200 22377 8.15 1 Axon;Dendrite;Endoplasmic reticulum;Cell membrane NA PE3 11 +NX_A8MXK9 166 18008 6.09 0 NA NA PE2 17 +NX_A8MXQ7 604 68295 6.18 0 NA NA PE5 8 +NX_A8MXT2 336 37578 9.25 0 NA NA PE1 X +NX_A8MXU0 73 8390 8.9 0 Secreted NA PE5 8 +NX_A8MXV4 375 42233 7.28 0 Cytosol;Nucleolus;Nucleus;Peroxisome NA PE1 19 +NX_A8MXV6 281 30100 9.53 1 Membrane NA PE2 17 +NX_A8MXY4 864 100791 9.54 0 Nucleus NA PE2 19 +NX_A8MXZ1 464 49910 9.98 0 NA NA PE5 8 +NX_A8MXZ3 250 26333 8.05 0 NA NA PE3 17 +NX_A8MY62 500 54653 8.75 0 NA NA PE1 1 +NX_A8MYA2 514 54417 9.18 0 NA NA PE1 X +NX_A8MYB1 307 35763 4.98 1 Membrane NA PE3 15 +NX_A8MYJ7 566 60903 6.98 0 NA NA PE2 1 +NX_A8MYP8 253 27280 10.42 0 NA NA PE1 22 +NX_A8MYU2 1149 129543 8.08 7 Cell membrane NA PE1 8 +NX_A8MYV0 355 40425 9.46 0 Cytoplasm;Flagellum NA PE1 2 +NX_A8MYX2 175 18345 6.23 0 NA NA PE2 10 +NX_A8MYZ0 460 51976 6.25 0 NA NA PE3 3 +NX_A8MYZ5 107 13059 11.71 0 NA NA PE1 3 +NX_A8MYZ6 492 50595 5.25 0 Cytoplasm;Nucleus NA PE1 1 +NX_A8MZ25 164 18125 11.55 0 NA NA PE5 17 +NX_A8MZ26 197 23937 8.95 0 NA NA PE1 5 +NX_A8MZ36 301 33953 5.8 0 Nucleoplasm;Nucleus NA PE1 17 +NX_A8MZ59 168 18626 5.68 0 Nucleolus;Nucleus NA PE2 19 +NX_A8MZ97 194 21915 6.01 1 Centrosome;Membrane NA PE1 2 +NX_A8MZA4 724 90952 5.06 0 NA NA PE3 15 +NX_A8MZF0 331 35187 8.54 0 NA NA PE1 11 +NX_A8MZG2 182 19564 8.54 0 NA NA PE2 16 +NX_A8MZH6 123 14433 8.23 0 Secreted NA PE5 11 +NX_A8TX70 2615 289926 6.5 0 Extracellular matrix NA PE1 3 +NX_A9QM74 516 56938 5.73 0 Nucleus NA PE1 7 +NX_A9UHW6 222 25423 5.23 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 17 +NX_A9YTQ3 701 76265 9.14 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 5 +NX_A9Z1Z3 1794 200980 5.88 1 Membrane NA PE2 20 +NX_B0FP48 263 28385 8.4 1 Membrane NA PE1 7 +NX_B0I1T2 1018 116442 8.96 0 Phagocytic cup;Cell membrane NA PE1 7 +NX_B0YJ81 288 32388 9.1 6 Endoplasmic reticulum membrane Myopathy, congenital, with fiber-type disproportion PE1 10 +NX_B1AH88 102 10537 8.81 0 NA NA PE5 22 +NX_B1AJZ1 125 14253 7.82 0 NA NA PE5 1 +NX_B1AJZ9 1412 161904 6.52 0 Nucleus NA PE1 1 +NX_B1AK53 854 91733 6.47 0 Microvillus;Cytoplasmic vesicle;Cytoskeleton;Stereocilium Deafness, autosomal recessive, 36, with or without vestibular involvement PE1 1 +NX_B1AK76 121 14245 8.82 0 NA NA PE5 X +NX_B1AKI9 464 52107 5.22 0 Secreted NA PE1 20 +NX_B1AL46 878 93979 7.97 0 NA NA PE3 10 +NX_B1AL88 458 51493 6.2 2 Cytoplasmic vesicle;Nucleus;Centrosome;Membrane NA PE1 13 +NX_B1AMM8 73 8554 6.39 0 NA NA PE5 9 +NX_B1ANH7 110 12198 9.26 0 NA NA PE5 1 +NX_B1ANS9 1081 123631 8.47 0 NA NA PE1 1 +NX_B1ANY3 271 29405 8.89 0 NA NA PE5 9 +NX_B1APH4 448 51624 8.07 0 Cytosol;Nucleoplasm;Nucleus;Nucleus membrane NA PE5 10 +NX_B1ATL7 298 31890 7.26 0 NA NA PE4 X +NX_B2CW77 178 19958 11.27 0 Nucleus Cowden syndrome 4 PE1 10 +NX_B2RBV5 119 13369 8.49 0 NA NA PE1 4 +NX_B2RC85 870 100547 7.16 0 NA NA PE1 7 +NX_B2RD01 187 21052 6.54 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA PE2 16 +NX_B2RN74 326 36530 8.14 7 Cell membrane NA PE2 14 +NX_B2RNN3 333 34713 8.23 0 Secreted NA PE1 13 +NX_B2RPK0 211 24238 5.92 0 Nucleus;Chromosome NA PE5 20 +NX_B2RTY4 2548 292706 9.03 1 Cytoplasm;Cell membrane;Membrane NA PE1 15 +NX_B2RU33 542 61188 6.31 0 NA NA PE2 18 +NX_B2RUY7 222 24570 5.06 0 Synapse;Secreted NA PE1 2 +NX_B2RUZ4 78 8749 9.22 1 Cell membrane NA PE1 1 +NX_B2RV13 164 19546 10.07 0 NA NA PE1 17 +NX_B2RXF0 380 42370 9.95 6 Cell membrane;Membrane NA PE1 7 +NX_B2RXF5 422 46491 8.85 0 Nucleoplasm;Cytoplasm;Nucleus Lethal congenital contracture syndrome 6 PE1 14 +NX_B2RXH2 506 56804 7.95 0 Nucleus NA PE1 11 +NX_B2RXH4 712 77931 4.94 0 Nucleus NA PE2 11 +NX_B2RXH8 293 32072 5.29 0 Nucleus NA PE1 1 +NX_B3EWF7 344 35169 11.93 0 Nucleus NA PE1 6 +NX_B3EWG3 89 9320 5.78 0 NA NA PE1 10 +NX_B3EWG5 89 9320 5.78 0 NA NA PE1 10 +NX_B3EWG6 89 9320 5.78 0 NA NA PE1 10 +NX_B3GLJ2 98 11747 9.3 0 Secreted NA PE1 11 +NX_B3KS81 715 80355 12.05 0 NA NA PE1 19 +NX_B3KU38 563 62248 5.08 0 Axon;Cytoplasm NA PE1 3 +NX_B3SHH9 223 24166 5.9 4 Cell membrane NA PE2 16 +NX_B4DH59 902 103816 4.35 0 Cytoplasm NA PE5 1 +NX_B4DJY2 109 12074 4.93 2 Membrane NA PE1 12 +NX_B4DS77 424 46925 8.95 1 Synapse;Dendritic spine membrane NA PE1 16 +NX_B4DU55 563 64577 9.63 0 Nucleus NA PE1 5 +NX_B4DX44 427 49868 9.1 0 Nucleus NA PE1 7 +NX_B4DXR9 585 67839 9.19 0 Nucleus NA PE2 4 +NX_B4DYI2 1134 124429 9.42 1 Membrane NA PE5 9 +NX_B4DZS4 312 34563 4.6 0 NA NA PE2 X +NX_B4E2M5 251 27916 9.3 0 NA NA PE2 6 +NX_B5MCN3 397 45364 6.63 0 Nucleoplasm NA PE5 22 +NX_B5MCY1 1934 221722 6.67 0 NA NA PE1 2 +NX_B5MD39 225 24102 5.75 0 NA NA PE5 22 +NX_B5ME19 914 105473 5.45 0 Cytoplasm NA PE1 16 +NX_B6A8C7 271 29474 8.87 1 Cell membrane NA PE1 19 +NX_B6SEH8 477 52557 8.76 1 Membrane NA PE2 19 +NX_B6SEH9 535 59317 8.87 2 Membrane NA PE2 19 +NX_B7U540 433 48880 5.76 2 Cell membrane Thyrotoxic periodic paralysis 2 PE1 17 +NX_B7Z1M9 353 37583 11.24 0 NA NA PE1 1 +NX_B7Z368 130 13757 9.83 0 NA NA PE2 10 +NX_B7Z6K7 855 97337 9.14 0 NA NA PE1 19 +NX_B7Z8K6 153 17085 9.42 1 Cell membrane NA PE1 14 +NX_B7ZAP0 253 29038 5.28 0 NA NA PE1 1 +NX_B7ZAQ6 455 52917 9.34 9 Golgi apparatus membrane;Endoplasmic reticulum NA PE1 1 +NX_B7ZBB8 358 38019 4.88 0 NA NA PE1 6 +NX_B7ZC32 967 108254 8.68 0 Mitochondrion membrane NA PE3 1 +NX_B7ZW38 293 32029 5.48 0 Nucleus NA PE1 1 +NX_B8ZZ34 397 41995 10.56 1 Membrane NA PE1 22 +NX_B9A014 251 29214 8.7 0 NA NA PE2 21 +NX_B9A064 214 23063 9.08 0 Secreted NA PE1 22 +NX_B9A6J9 549 62187 9.2 0 Cell membrane NA PE2 17 +NX_B9EJG8 249 27887 6.08 6 Lysosome membrane;Cell membrane NA PE2 4 +NX_B9ZVM9 353 38357 7.18 0 NA NA PE3 6 +NX_C4AMC7 463 49995 5.36 0 Early endosome membrane;Centriole;Autophagosome;Filopodium;Early endosome;Lamellipodium;Recycling endosome membrane NA PE1 15 +NX_C9J069 976 106650 9.26 0 Cytosol;Adherens junction;Focal adhesion;Apical cell membrane;Cilium NA PE1 9 +NX_C9J1S8 452 52496 8.74 0 NA NA PE1 11 +NX_C9J202 215 24154 5.47 0 NA NA PE3 3 +NX_C9J2P7 530 59676 8.22 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_C9J302 202 23001 8.57 0 NA NA PE4 4 +NX_C9J3I9 102 11666 6.84 0 NA NA PE1 5 +NX_C9J3V5 150 16880 10.33 0 Cytoplasm;Acrosome NA PE1 14 +NX_C9J442 243 27532 8.94 0 Nucleolus;Nucleus;Secreted NA PE2 22 +NX_C9J6K1 198 22444 6.97 0 Cytoplasmic vesicle NA PE1 19 +NX_C9J798 803 90406 7.81 0 Cytosol;Cell membrane NA PE2 7 +NX_C9J7I0 137 15200 4.35 0 Nucleoplasm NA PE1 7 +NX_C9JBD0 128 14906 9.42 0 Nucleoplasm;Golgi apparatus NA PE2 3 +NX_C9JC47 383 42896 11.26 0 NA NA PE3 3 +NX_C9JCN9 74 8384 4.86 0 Nucleoplasm NA PE2 18 +NX_C9JDP6 229 25394 5.37 4 Cell membrane;Tight junction NA PE5 11 +NX_C9JDV5 145 16178 9.67 0 NA NA PE2 12 +NX_C9JE40 543 61464 5 0 Cytoplasm;Nucleus Oocyte maturation defect 4 PE1 15 +NX_C9JFL3 82 7706 7.25 0 Cytoplasmic vesicle NA PE1 15 +NX_C9JG80 1138 126699 10.08 1 Membrane NA PE2 16 +NX_C9JH25 899 92712 6.27 5 Nucleoplasm;Membrane;Cell membrane;Peroxisome NA PE1 7 +NX_C9JI98 176 18040 11.54 2 Membrane NA PE1 19 +NX_C9JJ37 291 32365 6.21 0 NA NA PE2 1 +NX_C9JJH3 530 59886 8.46 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_C9JL84 531 58297 9.11 0 Secreted NA PE2 8 +NX_C9JLJ4 530 59694 8.22 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_C9JLR9 678 73197 5.82 0 Cytoskeleton NA PE1 11 +NX_C9JLW8 97 10920 9.39 0 Cytosol;Stress granule;Nucleus NA PE1 17 +NX_C9JN71 531 61540 9.55 0 Nucleolus;Nucleus NA PE1 19 +NX_C9JPN9 530 59687 8.35 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_C9JQI7 657 76453 8.29 2 Membrane NA PE2 5 +NX_C9JQL5 133 14796 9.61 2 Membrane NA PE5 12 +NX_C9JR72 458 49485 5.47 0 Cytoplasm Nemaline myopathy 6 PE1 15 +NX_C9JRZ8 316 36537 6.23 0 Cytosol;Mitochondrion NA PE1 7 +NX_C9JSJ3 638 70198 9.1 0 Nucleus NA PE3 19 +NX_C9JTQ0 380 39620 11.04 0 NA NA PE1 15 +NX_C9JUS6 153 16532 9.48 0 Secreted NA PE2 19 +NX_C9JVI0 530 59630 8.22 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_C9JVW0 142 14668 10.69 1 Membrane NA PE1 19 +NX_C9JXX5 98 10902 9.97 0 Secreted NA PE2 11 +NX_D3DTV9 90 10428 12 0 Nucleus NA PE5 17 +NX_D3W0D1 207 24008 5.83 1 Cell membrane NA PE1 12 +NX_D6R901 530 59659 8.22 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_D6R9N7 530 59657 8.35 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_D6RA61 530 59671 8.35 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_D6RBM5 183 20302 7.13 0 Nucleus;Endoplasmic reticulum NA PE5 4 +NX_D6RBQ6 530 59627 8.22 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_D6RCP7 530 59658 8.35 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_D6REC4 459 52293 10.55 0 Flagellum NA PE1 4 +NX_D6RF30 607 68878 8.64 0 NA NA PE3 15 +NX_D6RGH6 385 41720 5.62 0 Nucleus NA PE1 5 +NX_D6RGX4 464 49883 9.82 0 NA NA PE5 4 +NX_D6RIA3 1793 190074 9.11 0 NA NA PE1 4 +NX_D6RJB6 530 59626 8.22 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_E0CX11 47 5265 9.1 1 Mitochondrion;Mitochondrion membrane NA PE1 7 +NX_E2RYF6 1773 173478 3.9 1 Membrane NA PE1 6 +NX_E2RYF7 251 26282 4.36 0 Secreted NA PE2 6 +NX_E5RG02 174 19341 9.32 0 NA NA PE3 3 +NX_E5RHQ5 1161 129208 10.06 1 Membrane NA PE3 16 +NX_E5RIL1 263 28385 8.4 1 Membrane NA PE1 7 +NX_E5RJ46 101 11413 11.36 0 NA NA PE4 8 +NX_E5RJM6 399 41497 6.09 0 Nucleoplasm NA PE1 1 +NX_E5RQL4 147 16268 9.21 0 Cytoplasmic vesicle NA PE2 2 +NX_E7EML9 344 36995 8.46 0 Secreted NA PE3 3 +NX_E7ERA6 249 26629 9.43 1 Membrane NA PE1 1 +NX_E7ETH6 402 45541 8.73 0 Nucleus NA PE1 19 +NX_E7EU14 171 19623 9.4 0 Cytosol NA PE2 19 +NX_E7EW31 1015 106917 9.68 0 Nucleoplasm NA PE1 5 +NX_E9PAV3 2078 205422 9.6 0 Cytoplasm;Nucleus NA PE1 12 +NX_E9PB15 166 19074 4.81 0 NA NA PE5 17 +NX_E9PGG2 379 41695 5.25 0 Nucleus NA PE1 12 +NX_E9PI22 279 31050 6.08 0 NA NA PE2 8 +NX_E9PIF3 369 42223 9.62 0 NA NA PE3 16 +NX_E9PJ23 425 49162 10.38 0 NA NA PE2 16 +NX_E9PJI5 369 42230 9.22 0 NA NA PE1 16 +NX_E9PKD4 350 40105 9.48 0 NA NA PE2 16 +NX_E9PQ53 114 13408 8.47 1 Mitochondrion inner membrane NA PE1 11 +NX_E9PQR5 432 49617 10.15 0 NA NA PE2 16 +NX_E9PQX1 116 13758 6.11 3 Membrane NA PE2 11 +NX_E9PRG8 122 13798 11.69 0 NA NA PE1 11 +NX_F2Z333 226 24218 9.11 1 Membrane NA PE1 1 +NX_F2Z398 122 13273 5 0 NA NA PE2 13 +NX_F2Z3F1 127 14123 9.23 0 NA NA PE2 5 +NX_F2Z3M2 114 12668 5.7 0 NA NA PE4 17 +NX_F5GYI3 381 40592 5.37 0 Nucleus NA PE2 15 +NX_F5H284 164 18167 9.43 0 Cytoplasm NA PE3 1 +NX_F5H4A9 247 25682 5.51 1 Membrane NA PE1 3 +NX_F5H4B4 570 66188 9.39 0 Nucleoplasm NA PE1 22 +NX_F7VJQ1 73 8691 9.24 1 Mitochondrion outer membrane NA PE1 20 +NX_F8VTS6 287 32249 7.47 0 NA NA PE2 19 +NX_F8W1W9 429 49181 10.44 0 NA NA PE2 16 +NX_F8WBI6 632 71524 5.93 0 NA NA PE2 15 +NX_F8WCM5 200 21537 5.93 0 NA NA PE1 11 +NX_F8WFD2 350 40061 9.48 0 NA NA PE3 16 +NX_G2XKQ0 101 11526 5.33 0 Nucleus NA PE1 20 +NX_G3V0H7 640 71247 8.8 11 Cell membrane NA PE5 12 +NX_G3V211 115 13510 9.43 0 NA NA PE5 12 +NX_G9CGD6 899 100365 8.55 0 NA NA PE1 6 +NX_H0UI37 97 11268 5.43 0 NA NA PE3 6 +NX_H0Y354 149 16730 6.27 0 NA NA PE3 1 +NX_H0Y7S4 382 44302 8.65 0 NA NA PE5 1 +NX_H0YKK7 550 64493 4.78 0 NA NA PE5 15 +NX_H0YL09 131 14853 5.27 0 NA NA PE5 15 +NX_H0YL14 139 16083 10.48 2 Nucleoplasm;Cytoplasm;Nucleus;Membrane NA PE1 9 +NX_H0YM25 810 102665 4.95 0 NA NA PE3 15 +NX_H3BMG3 65 7091 10.3 0 Nucleolus NA PE2 7 +NX_H3BN30 126 14216 9.41 0 NA NA PE2 16 +NX_H3BNL1 204 23376 9.32 0 NA NA PE1 3 +NX_H3BNL8 230 26547 9.09 0 NA NA PE1 6 +NX_H3BPF8 625 70417 7.67 0 NA NA PE3 15 +NX_H3BPM6 223 25451 5.83 0 Golgi apparatus NA PE2 3 +NX_H3BQB6 276 30984 8.61 0 Cytoskeleton NA PE1 6 +NX_H3BQJ8 138 15317 9.07 0 Cell membrane NA PE3 8 +NX_H3BQL2 631 71644 7.69 0 NA NA PE3 15 +NX_H3BQW9 127 12972 7.75 0 NA NA PE2 1 +NX_H3BR10 107 12312 10.43 2 Membrane NA PE1 6 +NX_H3BRN8 121 13763 8.49 0 Cytosol;Nucleus NA PE1 15 +NX_H3BS89 294 33409 9.45 3 Cytoplasmic vesicle;Nucleolus;Membrane NA PE1 7 +NX_H3BSY2 632 71498 6.65 0 NA NA PE2 15 +NX_H3BTG2 121 14053 9.86 0 NA NA PE1 1 +NX_H3BU77 68 8104 9.78 0 NA NA PE2 11 +NX_H3BUK9 544 61708 5.75 0 NA NA PE3 15 +NX_H3BV12 632 71646 5.98 0 NA NA PE3 15 +NX_H3BV60 316 32819 11.72 1 Cytoplasmic vesicle;Membrane NA PE1 19 +NX_H7BZ55 1655 185872 5.42 0 NA NA PE5 2 +NX_H7C241 214 24226 8.21 4 Cell membrane;Tight junction NA PE3 X +NX_H7C350 402 43548 8.61 1 Nucleoplasm;Nucleus;Membrane NA PE1 22 +NX_I0J062 215 22842 12.21 0 Nucleolus NA PE2 11 +NX_I1YAP6 450 52450 8.59 0 NA NA PE2 11 +NX_I3L0S3 204 21949 11.32 0 NA NA PE5 16 +NX_I3L1E1 186 19614 6.96 0 NA NA PE1 19 +NX_I3L273 518 56104 5.64 1 Golgi apparatus membrane NA PE3 19 +NX_I3L3R5 266 30352 5.22 0 Secreted NA PE1 19 +NX_I6L899 631 71490 5.98 0 NA NA PE1 15 +NX_J3KSC0 135 14903 7.65 0 NA NA PE5 18 +NX_K7EIQ3 104 11601 8.99 0 NA NA PE4 19 +NX_K7EJ46 135 14570 6.06 1 Cytosol;Nucleoplasm;Membrane NA PE1 16 +NX_K9M1U5 179 19675 11.29 0 Cytoplasm;Secreted NA PE1 19 +NX_L0R6Q1 103 11133 7.81 1 Membrane NA PE1 5 +NX_L0R819 96 11250 8.83 0 Cytoplasm NA PE1 2 +NX_L0R8F8 70 8445 10.59 0 Mitochondrion matrix NA PE1 22 +NX_M0QZC1 329 34789 9.43 1 Membrane NA PE3 19 +NX_M5A8F1 160 18128 9.24 0 Secreted NA PE1 21 +NX_O00110 214 23826 10.2 0 Nucleus NA PE3 19 +NX_O00115 360 39581 8.3 0 Lysosome NA PE1 19 +NX_O00116 658 72912 6.99 0 Peroxisome membrane;Peroxisome Rhizomelic chondrodysplasia punctata 3 PE1 2 +NX_O00124 270 30541 7.63 2 Nucleoplasm;Endoplasmic reticulum membrane;Nucleolus;Endoplasmic reticulum NA PE1 8 +NX_O00139 706 79955 6.28 0 Nucleolus;Cytoplasm;Centrosome;Nucleus;Spindle;Spindle pole Cortical dysplasia, complex, with other brain malformations 3 PE1 5 +NX_O00141 431 48942 8.7 0 Endoplasmic reticulum membrane;Nucleus speckle;Cytoplasm;Cell membrane;Nucleus;Mitochondrion NA PE1 6 +NX_O00142 265 31005 8.71 0 Mitochondrion Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3;Mitochondrial DNA depletion syndrome 2 PE1 16 +NX_O00144 591 64466 8.63 7 Cell membrane NA PE2 7 +NX_O00148 427 49130 5.46 0 Cytoplasm;Nucleus NA PE1 19 +NX_O00151 329 36072 6.56 0 Cell membrane;Cytoskeleton;Cell junction;Z line;Cytoplasm NA PE1 10 +NX_O00154 380 41796 8.85 0 Mitochondrion;Cytoplasm;Cytosol;Nucleoplasm NA PE1 1 +NX_O00155 361 38779 9.56 7 Cell membrane NA PE1 1 +NX_O00159 1063 121682 9.46 0 Nucleolus;Ruffle;Nucleoplasm;Cytoplasm;Nuclear pore complex;Cell membrane;Cytoplasmic vesicle;Nucleus;Stereocilium membrane NA PE1 17 +NX_O00160 1098 124844 9.21 0 NA NA PE1 19 +NX_O00161 211 23354 4.89 0 Synaptosome;Cell membrane NA PE1 15 +NX_O00165 279 31621 4.76 0 P-body;Nucleus membrane;Cytoplasm;Cell cortex;Endoplasmic reticulum;Cytoplasmic vesicle;Sarcoplasmic reticulum;Nucleus;Cell membrane;Mitochondrion Neutropenia, severe congenital 3, autosomal recessive PE1 1 +NX_O00167 538 59232 6.02 0 Cytosol;Cytoplasm;Nucleus NA PE1 20 +NX_O00168 92 10441 9.35 1 Nucleolus;Cytosol;Apical cell membrane;Nucleus;Sarcolemma;Caveola NA PE1 19 +NX_O00170 330 37636 5.88 0 Cytosol;Cytoplasm Pituitary adenoma 1, multiple types;Prolactin-secreting pituitary adenoma PE1 11 +NX_O00175 119 13134 10 0 Secreted NA PE1 7 +NX_O00178 669 72454 8.6 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA PE1 22 +NX_O00180 336 38143 5.94 4 Synapse;Apical cell membrane;Perikaryon;Cell membrane;Cytoplasmic vesicle;Dendrite;Recycling endosome;Cell projection NA PE1 1 +NX_O00182 355 39518 9.34 0 Cytoplasm;Nucleus;Secreted NA PE1 17 +NX_O00186 592 67764 7.98 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 1 +NX_O00187 686 75702 5.39 0 Golgi apparatus;Secreted MASP2 deficiency PE1 1 +NX_O00189 453 49977 6.71 0 trans-Golgi network membrane;Early endosome Spastic paraplegia 50, autosomal recessive PE1 7 +NX_O00192 962 104642 6.38 0 Cell junction;Cell membrane NA PE1 22 +NX_O00193 183 20333 4.57 0 Nucleoplasm;Endoplasmic reticulum NA PE1 11 +NX_O00194 218 24608 5.35 0 Cytosol;Cell membrane;Golgi apparatus;Membrane NA PE1 18 +NX_O00198 91 9884 11.75 1 Mitochondrion;Membrane NA PE1 12 +NX_O00203 1094 121320 5.75 0 Nucleoplasm;Clathrin-coated vesicle membrane;Golgi apparatus Hermansky-Pudlak syndrome 2 PE1 5 +NX_O00204 365 41308 5.24 0 Cytosol;Cytoplasmic vesicle;Nucleus;Microsome;Cytoplasm Ichthyosis, congenital, autosomal recessive 14 PE1 19 +NX_O00206 839 95680 5.88 1 Cytosol;Cell membrane;Golgi apparatus;Early endosome NA PE1 9 +NX_O00212 210 23413 8.15 0 Cell membrane;Early endosome NA PE1 11 +NX_O00213 710 77244 4.98 0 Nucleus speckle;Nucleus;Growth cone;Cell membrane;Cytoplasm NA PE1 11 +NX_O00214 317 35808 8.33 0 Cytoplasmic vesicle;Cytosol NA PE1 1 +NX_O00217 210 23705 6 0 Mitochondrion Leigh syndrome PE1 11 +NX_O00219 553 62998 8.77 7 Cytoskeleton;Membrane NA PE1 16 +NX_O00220 468 50089 6.64 1 Nucleoplasm;Membrane NA PE1 8 +NX_O00221 500 52864 6.22 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 6 +NX_O00222 908 101741 8.49 7 Cell membrane NA PE1 7 +NX_O00230 105 11532 8.84 0 Secreted NA PE2 1 +NX_O00231 422 47464 6.08 0 Cytosol;Nucleus;Golgi apparatus NA PE1 17 +NX_O00232 456 52904 7.53 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus Stankiewicz-Isidor syndrome PE1 17 +NX_O00233 223 24682 6.46 0 Cytosol;Cell membrane NA PE1 12 +NX_O00237 685 79405 5.45 4 Endoplasmic reticulum membrane NA PE1 2 +NX_O00238 502 56930 7.78 1 Cell membrane;Membrane Acromesomelic dysplasia, Demirhan type;Brachydactyly A2;Brachydactyly A1, D PE1 4 +NX_O00241 398 43211 6.06 1 Cytoplasmic vesicle;Membrane NA PE1 20 +NX_O00244 68 7402 6.71 0 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA PE1 5 +NX_O00253 132 14440 7.44 0 Golgi apparatus lumen;Secreted Obesity PE1 16 +NX_O00254 374 42508 8.56 7 Cell membrane;Endoplasmic reticulum NA PE1 5 +NX_O00255 615 68023 6.14 0 Nucleoplasm;Cytosol;Nucleus Familial multiple endocrine neoplasia type I PE1 11 +NX_O00257 560 61368 9.41 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 17 +NX_O00258 174 19780 9.71 3 Endoplasmic reticulum membrane NA PE1 21 +NX_O00264 195 21671 4.56 1 Microsome membrane;Nucleolus;Smooth endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 X +NX_O00267 1087 121000 4.95 0 Nucleoplasm;Nucleus NA PE1 19 +NX_O00268 1085 110114 9.95 0 Nucleoplasm;Nucleus NA PE1 20 +NX_O00270 319 35075 9.37 7 Cell membrane NA PE2 6 +NX_O00273 331 36522 4.68 0 Cytosol;Cytoplasm;Cell membrane NA PE1 1 +NX_O00287 272 28232 5.41 0 Nucleus speckle;Nucleus Bare lymphocyte syndrome 2 PE1 13 +NX_O00291 1037 116221 5.2 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Clathrin-coated vesicle membrane;Endomembrane system NA PE1 7 +NX_O00292 366 40920 8.91 0 Secreted Left-right axis malformations PE1 1 +NX_O00294 542 60609 9.49 0 Cytoplasm;Synapse;Cell membrane;Secreted Leber congenital amaurosis 15;Retinitis pigmentosa 14 PE1 6 +NX_O00295 520 58664 8.31 0 Cytoplasm;Secreted NA PE1 19 +NX_O00299 241 26923 5.09 1 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleus membrane NA PE1 6 +NX_O00300 401 46026 8.66 0 Secreted Paget disease of bone 5, juvenile-onset PE1 8 +NX_O00303 357 37564 5.24 0 Cytosol;Cytoplasm;Nucleolus NA PE1 11 +NX_O00305 520 58169 9.37 0 NA Episodic ataxia 5;Epilepsy, idiopathic generalized 9;Juvenile myoclonic epilepsy 6 PE1 2 +NX_O00308 870 98912 6.67 0 Nucleus NA PE1 16 +NX_O00311 574 63888 8.96 0 Nucleoplasm;Spindle;Nucleus;Cytoskeleton NA PE1 1 +NX_O00321 342 36633 5.88 0 Nucleus NA PE2 19 +NX_O00322 258 28879 5.16 4 Membrane NA PE1 19 +NX_O00327 626 68762 6.4 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;PML body NA PE1 11 +NX_O00329 1044 119479 6.79 0 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton Activated PI3K-delta syndrome PE1 1 +NX_O00330 501 54122 8.8 0 Mitochondrion matrix;Mitochondrion;Nucleus;Cell membrane Pyruvate dehydrogenase E3-binding protein deficiency PE1 11 +NX_O00337 649 71584 7.77 13 Cell membrane NA PE1 15 +NX_O00338 296 34880 7.12 0 Cytoplasm NA PE1 2 +NX_O00339 956 106837 5.86 0 Secreted NA PE1 8 +NX_O00341 560 60658 6.33 10 Membrane NA PE2 1 +NX_O00358 373 38076 9.62 0 Nucleus Bamforth-Lazarus syndrome;Thyroid cancer, non-medullary, 4 PE1 9 +NX_O00370 1275 149012 9.68 0 NA NA PE1 unknown +NX_O00391 747 82578 9.13 1 Cytoplasmic vesicle;Extracellular space;Golgi apparatus membrane;Golgi apparatus NA PE1 1 +NX_O00398 339 38774 9.26 7 Cell membrane NA PE1 X +NX_O00399 190 20747 5.94 0 Kinetochore;Cytosol;Cytoskeleton;Nucleolus;Cell membrane NA PE1 8 +NX_O00400 549 60909 6.98 11 Endoplasmic reticulum membrane;Nucleus Congenital cataracts, hearing loss, and neurodegeneration;Spastic paraplegia 42, autosomal dominant PE1 3 +NX_O00401 505 54827 8.05 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA PE1 7 +NX_O00408 941 105717 5.22 0 Cytosol;Cytoplasm;Cell membrane;Mitochondrion outer membrane;Mitochondrion;Mitochondrion inner membrane;Mitochondrion matrix NA PE1 11 +NX_O00409 490 53835 6.19 0 Nucleus;Cell membrane NA PE1 14 +NX_O00410 1097 123630 4.83 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Nucleoplasm NA PE1 13 +NX_O00411 1230 138620 9.19 0 Mitochondrion NA PE1 19 +NX_O00418 725 82144 5.16 0 Nucleoplasm NA PE1 16 +NX_O00421 344 39513 7.92 7 Cell membrane NA PE1 3 +NX_O00422 153 17561 9.38 0 Cytosol;Nucleus speckle;Nucleoplasm;Nucleus;Cytoplasm NA PE1 13 +NX_O00423 815 89861 6.61 0 Cytoplasm;Perinuclear region;Cytoskeleton Band heterotopia PE1 14 +NX_O00425 579 63705 8.99 0 Cytosol;Cytoplasm;Nucleus NA PE1 7 +NX_O00429 736 81877 6.37 0 Synaptic vesicle membrane;Golgi apparatus;Cytosol;Clathrin-coated pit;Endomembrane system;Cytoplasmic vesicle;Peroxisome;Mitochondrion outer membrane Optic atrophy 5;Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PE1 12 +NX_O00442 366 39337 8.01 0 Nucleoplasm;Nucleus NA PE1 1 +NX_O00443 1686 190680 8.25 0 Cytoplasm;Nucleus;Clathrin-coated vesicle;Golgi apparatus;Cell membrane NA PE1 11 +NX_O00444 970 108972 8.79 0 Centriole;Cytosol;Nucleolus;Centrosome;Cleavage furrow Microcephaly and chorioretinopathy, autosomal recessive, 2 PE1 4 +NX_O00445 386 42900 9.27 1 Synaptic vesicle membrane;Recycling endosome membrane NA PE1 19 +NX_O00451 464 51544 8 0 Cytoplasmic vesicle;Cell membrane NA PE1 8 +NX_O00453 97 10792 8.43 1 Endomembrane system;Golgi apparatus membrane;Membrane NA PE1 6 +NX_O00458 451 50269 6.8 0 Cytosol;Cell membrane NA PE1 7 +NX_O00459 728 81545 6.03 0 Golgi apparatus Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PE1 19 +NX_O00461 696 81880 4.73 1 Endosome membrane;Golgi stack membrane;Golgi apparatus;Membrane NA PE1 3 +NX_O00462 879 100895 5.33 0 Cytoplasmic vesicle;Lysosome Mannosidosis, beta A, lysosomal PE1 4 +NX_O00463 557 64406 7.26 0 Cytosol;Cytoplasm NA PE1 1 +NX_O00468 2068 217320 6.01 0 Cytosol;Synapse;Cell membrane;Extracellular matrix Myasthenic syndrome, congenital, 8 PE1 1 +NX_O00469 737 84686 6.24 0 Cytosol;Rough endoplasmic reticulum membrane;Nucleolus Bruck syndrome 2 PE1 3 +NX_O00470 390 43016 5.86 0 Nucleoplasm;Nucleus Restless legs syndrome 7 PE1 2 +NX_O00471 708 81853 6.27 0 Cytoplasm;Midbody NA PE1 14 +NX_O00472 640 72324 9.09 0 Nucleoplasm;Nucleus NA PE1 5 +NX_O00476 420 46106 8.69 8 Endoplasmic reticulum membrane;Cell membrane NA PE1 6 +NX_O00478 584 65002 5.37 1 Cell membrane NA PE1 6 +NX_O00479 90 9539 10.48 0 Nucleus NA PE1 6 +NX_O00481 513 57677 8.23 1 Cytoplasmic vesicle;Cell membrane NA PE1 6 +NX_O00482 541 61331 8.08 0 Nucleus speckle;Nucleus NA PE1 1 +NX_O00483 81 9370 9.42 0 Mitochondrion inner membrane Leigh syndrome PE1 7 +NX_O00487 310 34577 6.06 0 Nucleoplasm NA PE1 2 +NX_O00488 134 15199 9.85 0 Nucleolus;Nucleus NA PE1 1 +NX_O00499 593 64699 4.97 0 Cytosol;Cytoplasm;Endosome;Nucleus;Sarcolemma Myopathy, centronuclear, 2 PE1 2 +NX_O00501 218 23147 8.25 4 Tight junction;Cell membrane NA PE1 22 +NX_O00505 521 57811 4.8 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 13 +NX_O00506 426 48112 6.27 0 Cytoplasm;Golgi apparatus NA PE1 2 +NX_O00507 2555 291077 5.56 0 Cytoplasmic vesicle;Cytoplasm Spermatogenic failure Y-linked 2 PE1 Y +NX_O00512 1426 149290 8.99 0 Nucleoplasm;Nucleus NA PE1 1 +NX_O00515 517 57131 9.67 0 Cytoskeleton;Basement membrane NA PE1 1 +NX_O00519 579 63066 7.82 1 Cytosol;Cytoskeleton;Endomembrane system NA PE1 1 +NX_O00522 736 84348 8.63 0 Cytoplasmic vesicle;Cytoskeleton;Cell junction;Cell membrane Cerebral cavernous malformations 1 PE1 7 +NX_O00526 184 19438 10.41 1 Cell membrane;Endoplasmic reticulum NA PE1 11 +NX_O00533 1208 135071 5.51 1 Cell membrane;Extracellular matrix NA PE1 3 +NX_O00534 786 86489 6.13 0 Nucleus NA PE1 11 +NX_O00541 588 68003 6.93 0 Nucleoplasm;Nucleolus;Nucleus;Chromosome NA PE1 22 +NX_O00548 723 78056 5.85 1 Nucleoplasm;Adherens junction;Apical cell membrane;Membrane raft NA PE1 6 +NX_O00555 2506 282564 9 24 Cell membrane;Endoplasmic reticulum Epileptic encephalopathy, early infantile, 42;Spinocerebellar ataxia 6;Episodic ataxia 2;Migraine, familial hemiplegic, 1 PE1 19 +NX_O00559 213 24377 6.04 1 Golgi apparatus membrane;Golgi apparatus NA PE1 8 +NX_O00560 298 32444 7.06 0 Endoplasmic reticulum membrane;Melanosome;Nucleus membrane;Cytosol;Cell membrane;Membrane raft;Nucleoplasm;Focal adhesion;Nucleus;Adherens junction;Cytoskeleton;Exosome NA PE1 8 +NX_O00562 1244 134848 5.64 0 Endoplasmic reticulum membrane;Golgi stack membrane;Cleavage furrow;Cytosol;Cytoplasm;Lipid droplet;Microtubule organizing center;Midbody NA PE1 11 +NX_O00566 681 78864 4.77 0 Nucleolus;Chromosome NA PE1 2 +NX_O00567 594 66050 9.24 0 Nucleoplasm;Cytoplasm;Nucleolus Spinocerebellar ataxia 36 PE1 20 +NX_O00570 391 39023 9.7 0 Nucleus NA PE1 13 +NX_O00571 662 73243 6.73 0 Cytoplasm;Nucleus speckle;Mitochondrion outer membrane Mental retardation, X-linked 102 PE1 X +NX_O00574 342 39280 8.28 7 Cell membrane NA PE2 3 +NX_O00584 256 29481 6.66 0 Lysosome lumen;Endoplasmic reticulum lumen;Secreted Leukoencephalopathy, cystic, without megalencephaly PE1 6 +NX_O00585 134 14646 10.13 0 Secreted NA PE1 9 +NX_O00587 321 36202 9.01 1 Cytoskeleton;Golgi apparatus membrane NA PE1 22 +NX_O00590 384 43443 7.61 7 Nucleoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol;Early endosome;Recycling endosome NA PE1 3 +NX_O00591 440 50640 6.55 4 Postsynaptic cell membrane;Cell membrane NA PE1 5 +NX_O00592 558 58635 5.28 1 Apical cell membrane;Ruffle;Microvillus;Cell membrane;Microtubule organizing center;Cytoplasmic vesicle;Filopodium;Membrane;Lamellipodium;Membrane raft NA PE1 7 +NX_O00602 326 35078 6.39 0 Cell membrane;Secreted NA PE1 9 +NX_O00622 381 42027 8.64 0 Secreted NA PE1 1 +NX_O00623 359 40797 9.21 2 Peroxisome membrane Peroxisome biogenesis disorder 3A;Peroxisome biogenesis disorder complementation group 3;Peroxisome biogenesis disorder 3B PE1 17 +NX_O00624 439 47277 8.85 9 Membrane NA PE2 6 +NX_O00625 290 32113 6.42 0 Cytosol;Cytoplasm;Nucleus NA PE1 X +NX_O00626 93 10625 8.8 0 Secreted NA PE1 16 +NX_O00628 323 35892 5.41 0 Cytoplasmic vesicle;Nucleoplasm;Peroxisome;Cytoplasm Peroxisome biogenesis disorder complementation group 11;Rhizomelic chondrodysplasia punctata 1;Peroxisome biogenesis disorder 9B PE1 6 +NX_O00629 521 57887 4.8 0 Cytoplasm;Nucleus NA PE1 3 +NX_O00631 31 3762 8.34 1 Endoplasmic reticulum membrane;Cytoskeleton;Sarcoplasmic reticulum membrane NA PE1 11 +NX_O00634 580 61466 9.2 0 Extracellular matrix NA PE1 16 +NX_O00635 465 53416 6.61 0 Centrosome;Cell membrane;Cell junction NA PE1 6 +NX_O00712 420 47442 9.01 0 Nucleolus;Nucleus NA PE1 9 +NX_O00716 465 49162 5.29 0 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm NA PE1 6 +NX_O00743 305 35144 5.43 0 Mitochondrion;Cytoplasm NA PE1 9 +NX_O00744 389 43000 9.37 0 Extracellular matrix;Golgi apparatus;Secreted Split-hand/foot malformation 6;Tooth agenesis, selective, 8 PE1 12 +NX_O00746 187 20659 10.3 0 Mitochondrion matrix;Mitochondrion;Mitochondrion intermembrane space NA PE1 16 +NX_O00748 559 61807 5.71 0 Cytosol;Endoplasmic reticulum lumen;Golgi apparatus;Endoplasmic reticulum NA PE1 16 +NX_O00750 1634 184768 6.95 0 Nucleoplasm;Microsome;Endoplasmic reticulum;Cytosol;Nucleus;Cell membrane NA PE1 1 +NX_O00754 1011 113744 6.84 0 Nucleoplasm;Cytoplasmic vesicle;Lysosome Mannosidosis, alpha B, lysosomal PE1 19 +NX_O00755 349 39005 9.05 0 Secreted;Extracellular matrix Limb pelvis hypoplasia aplasia syndrome;Fuhrmann syndrome PE1 3 +NX_O00757 339 36743 6.84 0 Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;Cell junction;Z line NA PE1 9 +NX_O00762 179 19652 6.83 0 Cytosol;Cell membrane NA PE1 20 +NX_O00763 2458 276541 6.05 0 Mitochondrion;Nucleus;Endomembrane system NA PE1 12 +NX_O00764 312 35102 5.75 0 Cytoplasm;Nucleus NA PE1 21 +NX_O00767 359 41523 9.07 4 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 10 +NX_O14490 977 108873 6.66 0 Postsynaptic density;Synapse;Cell membrane NA PE1 18 +NX_O14492 632 67738 5.85 0 Cytosol;Cytoplasm;Cell membrane NA PE1 7 +NX_O14493 209 22077 8.38 4 Cell membrane;Tight junction NA PE1 7 +NX_O14494 284 32156 8.1 6 Cell membrane NA PE1 5 +NX_O14495 311 35116 9.31 6 trans-Golgi network membrane;Golgi apparatus;Cell membrane NA PE1 1 +NX_O14497 2285 242045 6.24 0 Nucleoplasm;Nucleus Coffin-Siris syndrome 2 PE1 1 +NX_O14498 428 45997 5 0 Cell membrane;Golgi apparatus;Secreted NA PE1 15 +NX_O14503 412 45510 8.3 0 Cytoplasm;Nucleus NA PE1 3 +NX_O14508 198 22172 8.9 0 Endoplasmic reticulum NA PE1 12 +NX_O14511 850 91679 9.51 1 Nucleolus;Nucleus;Cell membrane;Secreted NA PE1 5 +NX_O14512 581 62969 8.35 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 17 +NX_O14513 1909 208537 8.34 0 Cytosol;Nucleolus;Golgi apparatus;Cell membrane NA PE1 2 +NX_O14514 1584 173501 8.27 7 Phagocytic cup;Secreted;Cell membrane;Focal adhesion;Dendritic spine;Postsynaptic density NA PE1 8 +NX_O14519 115 12365 9.41 0 Nucleoplasm NA PE1 12 +NX_O14520 342 37232 9.04 6 Membrane NA PE1 9 +NX_O14521 159 17043 8.92 3 Mitochondrion inner membrane Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;Mitochondrial complex II deficiency PE1 11 +NX_O14522 1441 162134 6.44 1 Membrane NA PE1 20 +NX_O14523 706 76181 7.61 1 Endoplasmic reticulum membrane;Nucleolus;Nucleus membrane;Cytosol;Cell membrane;Nucleus NA PE1 11 +NX_O14524 444 50640 6.56 5 Nucleoplasm;Nucleus inner membrane;Nucleus envelope NA PE1 12 +NX_O14525 1302 144913 5.09 2 Endosome;Perikaryon;Golgi apparatus;Cell membrane;Cytoplasmic vesicle;Clathrin-coated vesicle NA PE1 1 +NX_O14526 889 96861 6.51 0 Cytosol;Nucleoplasm;Clathrin-coated pit NA PE1 19 +NX_O14529 1486 161677 5.38 0 Nucleus NA PE1 12 +NX_O14530 226 26534 5.61 0 Cytosol;Cytoplasm;Nucleus;Centrosome;Midbody NA PE1 2 +NX_O14531 572 61878 6.64 0 Cytoplasmic vesicle;Cytoplasm;Mitochondrion NA PE1 10 +NX_O14543 225 24770 8.97 0 Cytosol NA PE1 17 +NX_O14544 535 59528 6.79 0 Cytosol;Nucleus speckle NA PE1 18 +NX_O14545 582 64841 5.19 0 Nucleoplasm;Cytosol NA PE1 12 +NX_O14548 114 12615 9.43 0 Mitochondrion;Nucleolus;Mitochondrion inner membrane NA PE1 2 +NX_O14556 408 44501 8.39 0 Nucleoplasm;Cytoplasm;Centrosome NA PE1 19 +NX_O14558 160 17136 5.95 0 Cytoplasm;Nucleus;Secreted NA PE1 19 +NX_O14559 1287 137213 9.05 0 Cytosol;Cytoskeleton;Cell membrane NA PE1 19 +NX_O14561 156 17417 4.82 0 Mitochondrion;Nucleoplasm NA PE1 16 +NX_O14562 309 33382 5.55 0 Nucleolus;Nucleus NA PE1 16 +NX_O14569 222 23974 9.93 6 Endoplasmic reticulum membrane;Cytoplasmic vesicle membrane NA PE1 3 +NX_O14576 645 72955 5 0 Kinetochore;Cytoplasm;Spindle pole NA PE1 7 +NX_O14578 2027 231431 6.16 0 Cytosol;Cytoplasm Microcephaly 17, primary, autosomal recessive PE1 12 +NX_O14579 308 34482 4.98 0 COPI-coated vesicle membrane;Cytoplasm;Golgi apparatus membrane;Golgi apparatus NA PE1 19 +NX_O14581 309 34013 6.48 7 Cell membrane NA PE2 19 +NX_O14593 260 28102 4.45 0 Nucleoplasm;Cytoplasm;Nucleus Bare lymphocyte syndrome 2 PE1 19 +NX_O14594 1321 143093 5.22 0 Cytoplasmic vesicle;Centrosome;Secreted NA PE1 19 +NX_O14595 271 30664 5.34 0 Nucleoplasm;Nucleus NA PE1 12 +NX_O14598 125 12917 9.43 0 NA NA PE1 Y +NX_O14599 106 12063 10.19 0 NA NA PE1 Y +NX_O14602 144 16442 5.07 0 NA NA PE1 Y +NX_O14603 147 16512 8.27 0 NA NA PE1 Y +NX_O14604 44 5013 5.34 0 Cytoskeleton NA PE1 Y +NX_O14607 1347 149548 7.91 0 Nucleus NA PE1 Y +NX_O14609 159 18083 6.56 3 Membrane NA PE2 Y +NX_O14610 69 7747 6.27 0 Cell membrane NA PE2 17 +NX_O14613 210 22484 4.94 0 Cytosol;Cytoskeleton;Endomembrane system NA PE1 11 +NX_O14617 1153 130158 8.69 0 Cytosol;Cytoplasm;Golgi apparatus membrane Hermansky-Pudlak syndrome 10 PE1 19 +NX_O14618 274 29041 5.32 0 Cytoplasm NA PE1 11 +NX_O14625 94 10365 9.94 0 Secreted NA PE1 4 +NX_O14626 319 36754 9.1 7 Cell membrane NA PE1 3 +NX_O14627 284 30480 9.03 0 Nucleus NA PE1 X +NX_O14628 629 72332 8.45 0 Cytosol;Nucleus NA PE1 11 +NX_O14633 110 11219 8.54 0 NA NA PE1 1 +NX_O14638 875 100124 6.12 1 Apical cell membrane;Cell membrane;Secreted NA PE1 6 +NX_O14639 778 87688 8.91 0 Cytosol;Cytoplasm;Cytoskeleton NA PE1 10 +NX_O14640 695 75187 7.69 0 Cytoplasmic vesicle;Cytosol;Cell membrane Robinow syndrome, autosomal dominant 2 PE1 1 +NX_O14641 736 78948 5.67 0 Nucleoplasm;Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane NA PE1 17 +NX_O14645 258 29662 8.73 0 Cilium NA PE1 1 +NX_O14646 1710 196688 6.68 0 Cytoplasm;Nucleolus;Nucleus Pilarowski-Bjornsson syndrome PE1 5 +NX_O14647 1828 211344 8.22 0 Nucleus Epileptic encephalopathy, childhood-onset PE1 15 +NX_O14649 394 43518 9.26 4 Cell membrane Pulmonary hypertension, primary, 4 PE1 2 +NX_O14653 212 24775 7.86 1 Nucleoplasm;cis-Golgi network membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane;Golgi apparatus Epilepsy, progressive myoclonic 6 PE1 17 +NX_O14654 1257 133768 8.72 0 Cell membrane NA PE1 X +NX_O14656 332 37809 6.51 0 Nucleus membrane;Growth cone;Cytoplasmic vesicle;Secretory vesicle;Cytoskeleton;Endoplasmic reticulum lumen;Synaptic vesicle;Cytoplasmic vesicle membrane Dystonia 1, torsion, autosomal dominant PE1 9 +NX_O14657 336 37979 8.76 0 Cytosol;Nucleus speckle;Endoplasmic reticulum lumen;Nucleus membrane NA PE1 9 +NX_O14662 325 37031 5.75 1 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus membrane Pseudohypoparathyroidism 1B PE1 20 +NX_O14668 218 24947 5.13 1 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Membrane NA PE1 X +NX_O14669 202 22393 5.22 1 Cytosol;Nucleolus;Nucleus;Membrane NA PE1 19 +NX_O14672 748 84142 8.04 1 Cytoplasmic vesicle;Golgi apparatus membrane;Cell membrane Reticulate acropigmentation of Kitamura;Alzheimer disease 18 PE1 15 +NX_O14678 606 68597 6.12 5 Peroxisome membrane Methylmalonic aciduria and homocystinuria type cblJ PE1 14 +NX_O14681 340 38965 9.75 5 Endoplasmic reticulum membrane;Nucleus membrane;Golgi apparatus;Cytosol;Cytoplasm;Endoplasmic reticulum NA PE1 11 +NX_O14682 589 66130 6.4 0 Cytoplasm;Cytoskeleton;Nucleus matrix;Cell membrane NA PE1 5 +NX_O14683 189 21054 9.57 4 Endoplasmic reticulum;Golgi apparatus;Membrane NA PE1 11 +NX_O14684 152 17102 9.59 4 Endoplasmic reticulum;Membrane NA PE1 9 +NX_O14686 5537 593389 5.4 0 Cytosol;Nucleus;Cell membrane Kabuki syndrome 1 PE1 12 +NX_O14709 1029 118847 8.91 0 Nucleoplasm;Nucleus NA PE1 3 +NX_O14713 200 21782 5.95 0 Ruffle;Cytosol;Cytoplasm;Cell membrane;Microtubule organizing center;Nucleoplasm;Nucleus;Lamellipodium;Cytoskeleton NA PE1 2 +NX_O14715 1765 198993 6.09 0 NA NA PE1 2 +NX_O14717 391 44597 5.78 0 Nucleolus;Nucleus;Centrosome NA PE1 10 +NX_O14718 337 37423 8.78 7 Membrane NA PE1 4 +NX_O14727 1248 141840 5.96 0 Cytosol;Cytoplasm;Golgi apparatus;Nucleoplasm NA PE1 12 +NX_O14730 519 59093 5.52 0 Cytosol;Cytoplasm;Cell membrane;Golgi apparatus;Microtubule organizing center NA PE1 18 +NX_O14732 288 31321 6.15 0 Mitochondrion;Nucleoplasm NA PE1 18 +NX_O14733 419 47485 9.26 0 Cytosol;Cytoplasm;Nucleus;Cell membrane;Golgi apparatus NA PE1 19 +NX_O14734 319 35914 7.22 0 Cytoplasmic vesicle;Cytoplasm;Mitochondrion;Peroxisome matrix NA PE1 20 +NX_O14735 213 23539 8.23 5 Endoplasmic reticulum membrane;Nucleus membrane;Nucleoplasm;Cell membrane;Golgi apparatus membrane;Membrane NA PE1 16 +NX_O14737 125 14285 5.77 0 Cytosol;Nucleus NA PE1 19 +NX_O14744 637 72684 5.88 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA PE1 14 +NX_O14745 358 38868 5.55 0 Apical cell membrane;Ruffle;Microvillus;Cytoplasm;Cell membrane;Microtubule organizing center;Cytoplasmic vesicle;Filopodium;Endomembrane system Nephrolithiasis/osteoporosis, hypophosphatemic, 2 PE1 17 +NX_O14746 1132 126997 10.54 0 PML body;Nucleolus;Nucleus speckle;Nucleoplasm;Cytoplasm;Telomere;Cytosol;Nucleus Pulmonary fibrosis, idiopathic;Dyskeratosis congenita, autosomal recessive, 4;Dyskeratosis congenita, autosomal dominant, 2;Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1;Melanoma, cutaneous malignant 9;Aplastic anemia PE1 5 +NX_O14753 267 30259 9.02 0 Nucleus NA PE1 11 +NX_O14756 317 35966 8.94 0 Cytoplasmic vesicle;Microsome membrane;Early endosome membrane;Nucleus NA PE1 12 +NX_O14757 476 54434 8.5 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Centrosome;Nucleoplasm NA PE1 11 +NX_O14763 440 47878 5.39 1 Membrane Squamous cell carcinoma of the head and neck PE1 8 +NX_O14764 452 50708 8.7 4 Cytoplasmic vesicle;Postsynaptic cell membrane;Cell membrane;Golgi apparatus Epilepsy, idiopathic generalized 10;Generalized epilepsy with febrile seizures plus 5;Juvenile myoclonic epilepsy 7 PE1 1 +NX_O14770 477 51790 5.92 0 Cytosol;Nucleoplasm;Perinuclear region;Nucleus Cleft palate, cardiac defects, and mental retardation PE1 15 +NX_O14771 459 51263 6.48 0 Cytosol;Cytoplasmic vesicle;Nucleus;Nucleus membrane NA PE1 16 +NX_O14772 607 68010 6.45 0 Cytoplasm NA PE1 1 +NX_O14773 563 61248 6.01 0 Cytoplasm;Melanosome;Lysosome Ceroid lipofuscinosis, neuronal, 2;Spinocerebellar ataxia, autosomal recessive, 7 PE1 11 +NX_O14775 395 43566 6.02 0 Cytoplasm;Nucleus speckle;Nucleus;Centrosome;Membrane Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia;Intellectual developmental disorder with cardiac arrhythmia PE1 15 +NX_O14776 1098 123901 8.71 0 Nucleoplasm;Nucleus NA PE1 5 +NX_O14777 642 73913 5.48 0 Kinetochore;Nucleoplasm;Nucleus;Centrosome NA PE1 18 +NX_O14782 793 89426 8.28 0 Cytoskeleton;Nucleus;Nucleus membrane NA PE1 2 +NX_O14786 923 103134 5.58 1 Mitochondrion;Cell membrane;Endoplasmic reticulum;Secreted NA PE1 10 +NX_O14787 897 101388 4.87 0 Cytoplasm;Nucleolus;Nucleus NA PE1 19 +NX_O14788 317 35478 7.25 1 Cytoplasm;Cell membrane;Secreted Osteopetrosis, autosomal recessive 2 PE1 13 +NX_O14791 398 43974 5.6 0 Secreted Focal segmental glomerulosclerosis 4 PE1 22 +NX_O14792 307 35773 8.91 0 Cytoplasmic vesicle;Golgi apparatus lumen NA PE1 4 +NX_O14793 375 42750 6.35 0 Secreted Muscle hypertrophy PE1 2 +NX_O14795 1591 180679 5.67 0 Synapse;Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Membrane NA PE1 9 +NX_O14796 132 15297 8.97 0 NA NA PE1 1 +NX_O14798 259 27407 4.79 0 Cell membrane NA PE1 8 +NX_O14802 1390 155641 8.76 0 Nucleoplasm;Nucleus Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism PE1 10 +NX_O14804 337 38242 8.49 7 Cell membrane NA PE2 6 +NX_O14807 208 23846 8.82 0 Cell membrane NA PE1 3 +NX_O14810 134 15030 4.93 0 Cytosol Epileptic encephalopathy, early infantile, 63 PE1 4 +NX_O14813 284 29653 8.98 0 Cytoplasmic vesicle;Nucleus;Nucleus membrane Fibrosis of extraocular muscles, congenital, 2 PE1 11 +NX_O14815 690 79097 5.37 0 NA NA PE1 1 +NX_O14817 238 26118 6.07 4 Membrane NA PE1 11 +NX_O14818 248 27887 8.6 0 Cytoplasm;Nucleus NA PE1 20 +NX_O14827 1237 140764 7.37 0 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum;Cell membrane NA PE1 5 +NX_O14828 347 38287 7.55 4 Cytoplasmic vesicle;Membrane NA PE1 1 +NX_O14829 653 75792 6.37 0 Cytoskeleton;Cell membrane NA PE1 X +NX_O14830 753 86518 6.7 0 Photoreceptor inner segment;Cytoplasm;Photoreceptor outer segment NA PE1 4 +NX_O14832 338 38538 8.71 0 Peroxisome Refsum disease PE1 10 +NX_O14836 293 31816 8.35 1 Membrane Immunoglobulin A deficiency 2;Immunodeficiency, common variable, 2 PE1 17 +NX_O14841 1288 137457 6.12 0 Nucleolus 5-oxoprolinase deficiency PE1 8 +NX_O14842 300 31457 9.63 7 Cell membrane NA PE1 19 +NX_O14843 346 38649 8 7 Cell membrane NA PE1 19 +NX_O14862 343 38954 9.79 0 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus;Cytosol NA PE1 1 +NX_O14863 429 47483 6.11 6 Endosome membrane;Lysosome membrane;Late endosome membrane NA PE1 15 +NX_O14867 736 81958 4.95 0 Cytosol;Nucleus NA PE1 21 +NX_O14874 412 46360 8.97 0 Mitochondrion matrix;Mitochondrion Branched-chain ketoacid dehydrogenase kinase deficiency PE1 16 +NX_O14879 490 55985 5.12 0 Mitochondrion;Cytoplasm;Cytosol NA PE1 10 +NX_O14880 152 16516 9.46 3 Endoplasmic reticulum membrane;Microsome membrane NA PE1 1 +NX_O14893 280 31585 5.43 0 Cytoplasm;Nucleolus;Nucleus;Gem NA PE1 14 +NX_O14894 197 20823 8.56 4 Nucleoplasm;Cell junction;Cell membrane;Membrane NA PE2 17 +NX_O14896 467 53130 5.18 0 Cytosol;Cytoplasm;Nucleus Non-syndromic orofacial cleft 6;Popliteal pterygium syndrome;Van der Woude syndrome 1 PE1 1 +NX_O14901 512 55139 8.45 0 Nucleoplasm;Cytosol;Focal adhesion;Nucleus Maturity-onset diabetes of the young 7 PE1 2 +NX_O14904 365 40320 9.08 0 Extracellular matrix;Secreted NA PE1 1 +NX_O14905 357 39001 9.2 0 Secreted;Extracellular matrix NA PE1 17 +NX_O14907 124 13735 8.05 0 Nucleolus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Cytoskeleton NA PE1 17 +NX_O14908 333 36049 5.9 0 Cytoplasm;Nucleus;Cell junction;Cell membrane;Membrane NA PE1 19 +NX_O14910 233 25997 8.83 0 Synaptosome;Basolateral cell membrane;Cell membrane;Postsynaptic density;Cell junction;Tight junction NA PE1 12 +NX_O14917 1159 126229 5.03 1 Cytoplasmic vesicle;Cytosol;Cell membrane NA PE1 13 +NX_O14920 756 86564 5.58 0 Cytosol;Cytoplasm;Nucleus;Membrane raft Immunodeficiency 15 PE1 8 +NX_O14921 159 19135 9.07 0 NA NA PE2 1 +NX_O14924 1447 156357 7.2 0 Synapse;Nucleolus;Cytoplasm;Dendrite;Nucleus matrix;Nucleus NA PE1 4 +NX_O14925 209 21943 8.81 3 Mitochondrion;Mitochondrion inner membrane NA PE1 10 +NX_O14926 492 55057 7.95 0 Cytoskeleton;Stereocilium Retinitis pigmentosa 30 PE1 17 +NX_O14929 419 49513 5.52 0 Nucleus matrix;Cytoplasm;Nucleus;Nucleoplasm NA PE1 2 +NX_O14931 201 21593 9.17 1 Cell membrane NA PE1 6 +NX_O14933 153 17769 7.72 0 Cytosol NA PE1 11 +NX_O14936 926 105123 5.99 0 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm Mental retardation and microcephaly with pontine and cerebellar hypoplasia;FG syndrome 4 PE1 X +NX_O14939 933 105987 7.41 0 Membrane NA PE1 17 +NX_O14944 169 19044 7.49 1 Cytoplasmic vesicle;Extracellular space;Cell membrane NA PE1 4 +NX_O14948 347 38788 5.3 0 Nucleoplasm;Nucleus NA PE1 7 +NX_O14949 82 9906 10.07 0 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 4 PE1 5 +NX_O14950 172 19779 4.71 0 Cytoplasm NA PE1 18 +NX_O14957 56 6570 9.87 1 Mitochondrion inner membrane NA PE1 19 +NX_O14958 399 46436 4.22 0 Sarcoplasmic reticulum lumen Ventricular tachycardia, catecholaminergic polymorphic, 2 PE1 1 +NX_O14960 151 16390 9.49 0 Cytoplasm;Secreted NA PE1 5 +NX_O14964 777 86192 5.84 0 Endosome;Lysosome;Cytosol;Cytoplasm;Early endosome membrane;Multivesicular body membrane NA PE1 17 +NX_O14965 403 45809 9.45 0 Cytosol;Spindle pole;Centriole;Nucleus;Centrosome;Cilium basal body NA PE1 20 +NX_O14966 203 23155 6.73 0 Nucleolus;Nucleus membrane;Golgi apparatus;Cytoplasm;Cell membrane;Vacuole;Perinuclear region;trans-Golgi network;Cytoskeleton NA PE1 1 +NX_O14967 610 70039 4.58 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 4 +NX_O14972 297 33010 7.6 0 Mitochondrion NA PE1 21 +NX_O14974 1030 115281 5.31 0 Cytosol;Cytoplasm;Cytoskeleton;Stress fiber NA PE1 12 +NX_O14975 620 70312 8.75 3 Endoplasmic reticulum membrane;Peroxisome membrane NA PE1 15 +NX_O14976 1311 143191 5.49 0 Cytoplasmic vesicle;Perinuclear region;Focal adhesion;Golgi apparatus;trans-Golgi network NA PE1 4 +NX_O14977 448 49535 4.66 0 Cytoplasmic vesicle;Nucleus NA PE1 8 +NX_O14978 683 77299 6.54 0 Nucleoplasm;Cytosol;Spindle;Nucleus NA PE1 16 +NX_O14979 420 46438 9.59 0 Nucleoplasm;Cytoplasm;Nucleus Limb-girdle muscular dystrophy 1G PE1 4 +NX_O14980 1071 123386 5.71 0 Cajal body;Nucleolus;Nucleus membrane;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm NA PE1 2 +NX_O14981 1849 206887 6.08 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 10 +NX_O14983 1001 110252 5.07 10 Endoplasmic reticulum membrane;Endoplasmic reticulum;Sarcoplasmic reticulum membrane Brody myopathy PE1 16 +NX_O14986 540 61036 6.39 0 Cytoplasmic vesicle;Nucleus;Endomembrane system NA PE1 9 +NX_O14990 202 22660 5.04 0 NA NA PE1 X +NX_O14994 580 63303 9.42 0 Synaptic vesicle membrane NA PE1 22 +NX_O15013 1369 151612 5.46 0 Nucleoplasm Slowed nerve conduction velocity PE1 8 +NX_O15014 1411 151191 8.24 0 Cytosol;Nucleoplasm;Nucleus NA PE1 15 +NX_O15015 1829 200762 6.97 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA PE1 16 +NX_O15016 1216 134663 6.53 0 Nucleoplasm;Nucleus NA PE1 11 +NX_O15018 2839 301641 7.14 0 Secreted;Cytosol;Cytoplasm;Cell membrane;Nucleus;Endoplasmic reticulum NA PE1 5 +NX_O15020 2390 271325 5.79 0 Cytosol;Cytoskeleton;Cell cortex;Cell junction Spinocerebellar ataxia 5;Spinocerebellar ataxia, autosomal recessive, 14 PE1 11 +NX_O15021 2623 284097 8.85 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 5 +NX_O15027 2357 251894 5.51 0 Endoplasmic reticulum membrane;Microsome membrane;Golgi apparatus;Cytosol;Endoplasmic reticulum;Perinuclear region;Golgi apparatus membrane NA PE1 9 +NX_O15031 1838 205127 5.85 1 Cell membrane NA PE1 22 +NX_O15033 823 94223 6.85 0 Cytosol NA PE1 14 +NX_O15034 1052 116026 5.16 0 Synapse;Cell membrane NA PE1 12 +NX_O15037 678 74534 6.57 0 Cytosol;Nucleoplasm NA PE1 14 +NX_O15040 1411 153848 5.34 0 Nucleus Spastic paraplegia 49, autosomal recessive PE1 14 +NX_O15041 775 89228 7.2 0 Cytoplasmic vesicle;Nucleoplasm;Secreted NA PE1 7 +NX_O15042 1029 118292 8.59 0 Nucleoplasm;Nucleus NA PE1 3 +NX_O15047 1707 186034 5.07 0 Nucleus speckle;Chromosome NA PE1 16 +NX_O15049 544 60470 8.33 0 Nucleoplasm;Cytoplasmic vesicle;Axon;Centrosome;Dendrite NA PE1 5 +NX_O15050 2925 336221 6.34 0 Nucleoplasm NA PE1 3 +NX_O15054 1643 176632 8.83 0 Nucleus speckle;Nucleus NA PE1 17 +NX_O15055 1255 136579 6.04 0 Cytoplasm;Perinuclear region;Nucleolus;Nucleus Advanced sleep phase syndrome, familial, 1 PE1 2 +NX_O15056 1496 165538 6.96 0 Cytosol;Cytoplasm;Cell membrane;Axon;Cytoskeleton;Membrane raft NA PE1 6 +NX_O15060 712 79001 6.06 0 Cytoplasmic vesicle;Nucleus NA PE1 12 +NX_O15061 1565 172768 5.09 0 Adherens junction;Cytoskeleton NA PE1 15 +NX_O15062 677 74278 5.79 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 9 +NX_O15063 1070 116020 6.72 0 Nucleoplasm;Cytoplasm NA PE1 19 +NX_O15066 747 85125 7.3 0 Nucleoplasm;Cytoskeleton;Nucleolus;Cilium;Golgi apparatus NA PE1 20 +NX_O15067 1338 144734 5.5 0 Nucleoplasm;Cytoplasm;Cell membrane NA PE1 17 +NX_O15068 1137 128109 6.02 0 Cytoplasm;Cell membrane;Endomembrane system NA PE1 13 +NX_O15069 1562 161101 4.12 0 Cytosol;Cytoplasm;Nucleus NA PE1 7 +NX_O15072 1205 135603 6.76 0 Cytoskeleton;Extracellular matrix NA PE1 4 +NX_O15075 740 82224 8.84 0 Cytosol;Nucleoplasm NA PE1 13 +NX_O15078 2479 290386 5.75 0 Centriole;Cilium;Cytoplasmic vesicle;Centriolar satellite;Nucleus;Centrosome;Cilium basal body Leber congenital amaurosis 10;Meckel syndrome 4;Senior-Loken syndrome 6;Bardet-Biedl syndrome 14;Joubert syndrome 5 PE1 12 +NX_O15079 494 53537 5.41 1 Mitochondrion;Synaptosome;Cytoskeleton;Membrane NA PE1 20 +NX_O15083 957 110558 6.51 0 Synaptosome;Cytoskeleton;Synapse;Cytoplasm NA PE1 3 +NX_O15084 1053 112966 5.8 0 Nucleoplasm NA PE1 3 +NX_O15085 1522 167704 5.33 0 Cytoplasm;Cell membrane;Golgi apparatus;Membrane NA PE1 1 +NX_O15090 1300 141417 6.86 0 Nucleus;Cell junction NA PE1 19 +NX_O15091 583 67315 8.97 0 Mitochondrion;Nucleus NA PE1 14 +NX_O15105 426 46426 8.63 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Colorectal cancer 3 PE1 18 +NX_O15111 745 84640 6.27 0 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoplasm Cocoon syndrome PE1 10 +NX_O15116 133 15179 5.11 0 Cytosol;Cytoplasmic vesicle;P-body;Cytoplasm NA PE1 8 +NX_O15117 783 85387 6.11 0 Cytoplasm;Nucleus;Cell junction Thrombocytopenia 3 PE1 5 +NX_O15118 1278 142167 5.17 13 Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane;Nucleus Niemann-Pick disease C1 PE1 18 +NX_O15119 743 79389 8.3 0 Cytosol;Nucleoplasm;Nucleus Ulnar-mammary syndrome PE1 12 +NX_O15120 278 30914 9.21 3 Endoplasmic reticulum membrane;Centrosome Congenital generalized lipodystrophy 1 PE1 9 +NX_O15121 323 37866 6.97 6 Endoplasmic reticulum membrane;Mitochondrion;Membrane NA PE1 1 +NX_O15123 496 56919 5.41 0 Secreted NA PE1 8 +NX_O15126 338 37920 7.03 4 Cytoplasmic vesicle;Recycling endosome membrane;trans-Golgi network membrane;Cell junction;Nucleoplasm NA PE1 5 +NX_O15127 329 36649 5.72 4 Cytoplasmic vesicle;Recycling endosome membrane;trans-Golgi network membrane;Golgi apparatus;Cell membrane NA PE1 15 +NX_O15130 113 12440 5.04 0 Secreted NA PE2 12 +NX_O15131 536 60349 5.07 0 Cytosol;Cytoplasm NA PE1 6 +NX_O15143 372 40950 8.68 0 Cytoplasmic vesicle;Cytosol;Cytoskeleton;Nucleus Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease PE1 7 +NX_O15144 300 34333 6.84 0 Synaptosome;Golgi apparatus;Cytosol;Cytoplasm;Nucleus;Cytoskeleton;Cell projection NA PE1 2 +NX_O15145 178 20547 8.78 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus;Cell projection NA PE1 12 +NX_O15146 869 97056 6.96 1 Postsynaptic cell membrane Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Fetal akinesia deformation sequence PE1 9 +NX_O15151 490 54864 4.85 0 Nucleus NA PE1 1 +NX_O15155 118 13289 9.14 1 Endoplasmic reticulum membrane;cis-Golgi network membrane;Golgi apparatus membrane NA PE1 7 +NX_O15156 539 58027 5.53 0 Nucleoplasm;Nucleus NA PE1 1 +NX_O15160 346 39250 5.31 0 Nucleus Treacher Collins syndrome 3;Leukodystrophy, hypomyelinating, 11 PE1 6 +NX_O15162 318 35049 4.83 1 Golgi apparatus;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Membrane NA PE1 3 +NX_O15164 1050 116831 6.73 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 7 +NX_O15165 306 33900 5.86 1 Cytoplasmic vesicle;Nucleoplasm;Early endosome membrane NA PE1 18 +NX_O15169 862 95635 6.5 0 Nucleolus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Membrane Hepatocellular carcinoma;Caudal duplication anomaly PE1 16 +NX_O15172 72 7804 6.02 0 NA NA PE5 7 +NX_O15173 223 23818 4.76 1 Cytosol;Nucleus;Cell membrane;Membrane NA PE1 4 +NX_O15178 435 47443 6.62 0 Nucleus Neural tube defects;Sacral agenesis with vertebral anomalies;Chordoma PE1 6 +NX_O15182 167 19550 4.62 0 Centriole;Nucleolus;Centrosome NA PE1 5 +NX_O15194 276 31129 5.32 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 3 +NX_O15195 856 95907 6.55 0 NA NA PE1 3 +NX_O15197 1021 110700 6.19 1 Nucleus speckle;Secreted;Membrane NA PE1 7 +NX_O15198 467 52493 7.87 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Pulmonary hypertension, primary, 2 PE1 13 +NX_O15204 470 52775 7.01 0 Secreted NA PE1 8 +NX_O15205 165 18473 9.08 0 Cytoplasm;Nucleolus;Nucleus NA PE1 6 +NX_O15209 634 65602 5.93 0 Nucleoplasm;Nucleus NA PE1 6 +NX_O15211 777 83549 5.82 0 Nucleoplasm NA PE1 6 +NX_O15212 129 14583 8.83 0 Nucleus;Golgi apparatus NA PE1 6 +NX_O15213 610 68071 9.69 0 Nucleolus NA PE1 6 +NX_O15217 222 25704 7.89 0 Cytoplasm NA PE1 6 +NX_O15218 404 45323 7.28 7 Cell membrane NA PE2 12 +NX_O15225 51 5365 7 0 NA NA PE5 X +NX_O15226 690 77673 8.94 0 Nucleolus;Nucleus NA PE1 X +NX_O15228 680 77188 6.16 0 Peroxisome membrane Rhizomelic chondrodysplasia punctata 2 PE1 1 +NX_O15229 486 55810 9.18 2 Mitochondrion outer membrane NA PE1 1 +NX_O15230 3695 399737 6.66 0 Cytoplasmic vesicle;Nucleoplasm;Basement membrane NA PE1 20 +NX_O15231 689 73525 6.68 0 Focal adhesion;Cytoskeleton NA PE1 X +NX_O15232 486 52817 6.25 0 Golgi apparatus;Endoplasmic reticulum;Secreted Multiple epiphyseal dysplasia 5;Spondyloepimetaphyseal dysplasia MATN3-related;Osteoarthritis 2 PE1 2 +NX_O15234 703 76278 6.05 0 Nucleus speckle;Nucleus membrane;Stress granule;Cytoplasm;Cytoplasmic ribonucleoprotein granule;Dendrite;Perinuclear region;Nucleus NA PE1 17 +NX_O15235 138 15173 10.31 0 Mitochondrion NA PE1 19 +NX_O15239 70 8072 8.93 1 Cytosol;Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency PE1 X +NX_O15240 615 67258 4.76 0 Cytoplasmic vesicle;Secretory vesicle;Golgi apparatus;Secreted NA PE1 7 +NX_O15243 131 14254 6.01 4 Endosome membrane;Golgi apparatus membrane;Centrosome NA PE1 1 +NX_O15244 555 62581 8.68 12 Membrane NA PE1 6 +NX_O15245 554 61154 6.4 12 Basolateral cell membrane NA PE1 6 +NX_O15247 247 28356 5.44 1 Cytoplasm;Nucleus;Cell membrane;Membrane Mental retardation, X-linked, syndromic, 32 PE1 X +NX_O15254 700 77629 6.84 0 Peroxisome NA PE1 4 +NX_O15255 209 22278 8.56 0 Cell membrane NA PE2 X +NX_O15258 196 22958 9.56 3 Golgi apparatus membrane;Golgi apparatus NA PE1 1 +NX_O15259 732 83299 5.11 0 Cytoplasmic vesicle;Tight junction;Cilium;Cilium axoneme;Adherens junction Nephronophthisis 1;Senior-Loken syndrome 1;Joubert syndrome 4 PE1 2 +NX_O15260 269 30394 7.64 5 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 9 +NX_O15263 64 7038 9.46 0 Secreted NA PE1 8 +NX_O15264 365 42090 8.48 0 Cytosol;Nucleolus;Nucleus NA PE1 6 +NX_O15265 892 95451 9.89 0 Nucleolus;Cytosol;Cytoplasm;Nucleoplasm;Nucleus matrix;Nucleus;Cytoskeleton Spinocerebellar ataxia 7 PE1 3 +NX_O15266 292 32236 7.23 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus Leri-Weill dyschondrosteosis;Langer mesomelic dysplasia;Short stature, idiopathic, X-linked PE1 X +NX_O15269 473 52744 5.72 1 Endoplasmic reticulum membrane;Endoplasmic reticulum Neuropathy, hereditary sensory and autonomic, 1A PE1 9 +NX_O15270 562 62924 7.89 1 Mitochondrion;Endoplasmic reticulum membrane Neuropathy, hereditary sensory and autonomic, 1C PE1 14 +NX_O15273 167 19052 5.2 0 Sarcomere Cardiomyopathy, familial hypertrophic 25;Limb-girdle muscular dystrophy 2G PE1 17 +NX_O15287 622 68554 5.32 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cell membrane Fanconi anemia complementation group G PE1 9 +NX_O15294 1046 116925 6.22 0 Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;Membrane;Mitochondrion;Cell projection;Mitochondrion membrane Mental retardation, X-linked 106 PE1 X +NX_O15296 676 75857 5.73 0 Cytosol;Cytoskeleton;Nucleus;Cell membrane;Membrane NA PE1 17 +NX_O15297 605 66675 9.14 0 Cytosol;Nucleus;Endoplasmic reticulum Ovarian cancer;Breast cancer;Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold PE1 17 +NX_O15303 877 95468 8.34 7 Endoplasmic reticulum membrane;Dendrite;Golgi apparatus membrane;Cell membrane Night blindness, congenital stationary, 1B PE1 5 +NX_O15304 175 18695 7.86 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 14 +NX_O15305 246 28082 6.35 0 Cytosol;Cytoplasm;Nucleus Congenital disorder of glycosylation 1A PE1 16 +NX_O15315 384 42196 5.49 0 Nucleoplasm;Nucleus NA PE1 14 +NX_O15318 223 25914 4.53 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 5 +NX_O15320 804 90996 5.15 1 Endoplasmic reticulum membrane NA PE1 14 +NX_O15321 606 68861 6.7 9 Autophagosome membrane;Lysosome membrane;Golgi apparatus NA PE1 14 +NX_O15327 924 104738 5.87 0 Cytoplasm;Centrosome NA PE1 4 +NX_O15335 359 40476 9.49 0 Extracellular matrix NA PE1 17 +NX_O15342 81 9374 8.96 2 Membrane NA PE2 5 +NX_O15344 667 75251 6.35 0 Cytoplasm;Cytoskeleton;Spindle Opitz GBBB syndrome 1 PE1 X +NX_O15347 200 22980 8.48 0 Cytoplasm;Nucleolus;Nucleus;Chromosome Microphthalmia, syndromic, 13 PE1 X +NX_O15350 636 69623 6.47 0 Nucleoplasm;Cytoplasm;Nucleus;Golgi apparatus NA PE1 1 +NX_O15353 648 68925 5.93 0 Nucleus T-cell immunodeficiency, congenital alopecia, and nail dystrophy PE1 17 +NX_O15354 613 67114 8.68 7 Endoplasmic reticulum membrane;Cytosol;Nucleus membrane;Cell membrane NA PE1 7 +NX_O15355 546 59272 4.28 0 Nucleoplasm;Cytoplasm;Membrane NA PE1 2 +NX_O15357 1258 138599 6.1 0 Golgi apparatus;Cytosol;Filopodium;Membrane;Lamellipodium;Cytoskeleton Opsismodysplasia;Diabetes mellitus, non-insulin-dependent PE1 11 +NX_O15360 1455 162775 6.13 0 Cytoplasm;Nucleus Fanconi anemia, complementation group A PE1 16 +NX_O15370 315 34122 5.08 0 Nucleoplasm;Nucleus NA PE1 20 +NX_O15371 548 63973 5.79 0 Cytosol;Cytoplasm NA PE1 22 +NX_O15372 352 39930 6.09 0 Cytosol;Cytoplasm NA PE1 8 +NX_O15374 487 54022 8.25 12 Cytosol;Cytoskeleton;Cell membrane NA PE1 1 +NX_O15375 505 54994 8.59 12 Cell membrane NA PE1 17 +NX_O15379 428 48848 4.98 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleoplasm NA PE1 5 +NX_O15381 856 95051 6.11 0 Nucleoplasm;Nucleolus NA PE1 1 +NX_O15382 392 44288 8.88 0 Mitochondrion;Cytoplasm NA PE1 19 +NX_O15389 551 60715 7.01 1 Membrane NA PE1 19 +NX_O15391 372 41347 5.76 0 Nucleus NA PE1 X +NX_O15392 142 16389 5.66 0 Kinetochore;Cytoplasm;Midbody;Nucleus;Spindle;Centromere;Cytoskeleton;Chromosome NA PE1 17 +NX_O15393 492 53859 8.12 1 Nucleoplasm;Cell junction;Cell membrane;Secreted NA PE1 21 +NX_O15394 837 93046 5.44 1 Nucleus;Cell membrane NA PE1 21 +NX_O15397 1037 119938 5.04 0 Cytoplasm;Nucleus NA PE1 12 +NX_O15399 1336 143752 8.68 3 Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, early infantile, 46 PE1 19 +NX_O15400 261 29816 5.41 1 Early endosome membrane;Lysosome NA PE1 6 +NX_O15403 523 57393 7.95 12 Cytoplasmic vesicle;Cell membrane NA PE1 17 +NX_O15405 576 63342 7.36 0 Nucleoplasm;Nucleus NA PE1 16 +NX_O15409 715 79919 6.06 0 Nucleoplasm;Nucleus Speech-language disorder 1 PE1 7 +NX_O15417 2968 314519 8.88 0 Nucleoplasm;Cytosol;Mitochondrion;Nucleus membrane NA PE1 7 +NX_O15427 465 49469 8.23 12 Nucleus membrane;Cell membrane NA PE1 17 +NX_O15428 100 11021 9.59 0 NA NA PE5 1 +NX_O15431 190 21091 6.89 3 Cell membrane NA PE1 9 +NX_O15432 143 15681 6.25 3 Nucleus speckle;Cytoskeleton;Cell membrane;Membrane NA PE1 9 +NX_O15438 1527 169343 6.79 17 Cell membrane;Membrane NA PE1 17 +NX_O15439 1325 149527 8.41 14 Membrane NA PE1 13 +NX_O15440 1437 160660 8.87 13 Nucleus;Cell junction;Cell membrane;Membrane NA PE1 3 +NX_O15442 326 37207 6.17 0 NA NA PE2 22 +NX_O15444 150 16609 10.2 0 Secreted NA PE1 19 +NX_O15446 510 54986 8.66 0 Mitochondrion;Nucleolus;Nucleus;Chromosome NA PE1 19 +NX_O15455 904 103829 6.73 1 Endosome membrane;Endoplasmic reticulum membrane;Early endosome Encephalopathy, acute, infection-induced, Herpes-specific, 2 PE1 4 +NX_O15457 936 104756 7.16 0 NA NA PE1 1 +NX_O15460 535 60902 5.49 0 Cytoplasmic vesicle;Endoplasmic reticulum lumen;Endoplasmic reticulum Myopia 25, autosomal dominant PE1 5 +NX_O15466 376 43895 9.19 1 Golgi apparatus membrane;Midbody;Cell membrane NA PE1 18 +NX_O15467 120 13600 9.61 0 Secreted NA PE1 17 +NX_O15479 319 35277 8.87 0 Cytosol;Cytoplasmic vesicle;Nucleoplasm NA PE1 X +NX_O15480 346 39211 10.07 0 NA NA PE1 X +NX_O15481 346 38923 9.28 0 Cytoplasm NA PE1 X +NX_O15482 410 46131 5.86 1 Membrane NA PE2 X +NX_O15484 640 73169 7.57 0 NA Vitreoretinopathy, neovascular inflammatory PE1 11 +NX_O15488 501 55184 4.97 0 Cytosol;Nucleolus;Nucleus NA PE1 X +NX_O15492 202 22749 6.18 0 Cytosol;Membrane NA PE1 1 +NX_O15496 165 18153 6.07 0 Secreted NA PE1 16 +NX_O15498 198 22418 6.44 0 Cytosol;Mitochondrion;Cytoplasmic vesicle membrane;Golgi apparatus membrane NA PE1 7 +NX_O15499 205 21545 10.58 0 Nucleus NA PE2 22 +NX_O15503 277 29987 9.08 6 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA PE1 7 +NX_O15504 423 44872 9.25 0 Nuclear pore complex;Nucleus;Nucleus membrane NA PE1 7 +NX_O15511 151 16320 5.47 0 Cytosol;Cell membrane;Cytoplasmic vesicle;Nucleus;Cytoskeleton;Cell projection;Cell junction NA PE1 1 +NX_O15514 142 16311 4.75 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 2 +NX_O15516 846 95304 6.51 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 4 +NX_O15519 480 55344 8.19 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 2 +NX_O15520 208 23436 9.61 0 Secreted Aplasia of lacrimal and salivary glands;Lacrimo-auriculo-dento-digital syndrome PE1 5 +NX_O15522 239 25866 9.47 0 Nucleoplasm;Nucleus;Cell membrane NA PE2 14 +NX_O15523 660 73154 7.24 0 Cytoplasm;Nucleus NA PE1 Y +NX_O15524 211 23551 10.98 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytosol NA PE1 16 +NX_O15525 162 17850 10.04 0 Nucleus NA PE1 17 +NX_O15527 345 38782 8.89 0 Nucleoplasm;Nucleus;Mitochondrion;Nucleus matrix;Nucleus speckle Renal cell carcinoma PE1 3 +NX_O15528 508 56504 9.34 0 Mitochondrion membrane Rickets vitamin D-dependent 1A PE1 12 +NX_O15529 346 38695 7.55 7 Cell membrane NA PE1 19 +NX_O15530 556 63152 6.95 0 Cytoplasmic vesicle;Cytoplasm;Focal adhesion;Nucleus;Cell membrane NA PE1 16 +NX_O15533 448 47626 6.68 1 Endoplasmic reticulum membrane Bare lymphocyte syndrome 1 PE1 6 +NX_O15534 1290 136212 5.73 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 17 +NX_O15535 394 45954 6.94 0 Nucleoplasm;Nucleus NA PE1 6 +NX_O15537 224 25592 5.51 0 Cell membrane;Secreted Retinoschisis juvenile X-linked 1 PE1 X +NX_O15539 181 20946 6.85 0 Cytosol;Cytoplasm;Nucleus;Membrane NA PE1 1 +NX_O15540 132 14889 5.4 0 Cytoplasm NA PE1 6 +NX_O15541 343 38787 5.51 0 Nucleoplasm;Nucleus speckle Trichothiodystrophy 5, non-photosensitive PE1 X +NX_O15544 149 16056 6.27 0 NA NA PE2 3 +NX_O15547 441 48829 7.52 2 Cytosol;Nucleolus;Membrane NA PE1 22 +NX_O15550 1401 154177 7.17 0 Nucleus Kabuki syndrome 2 PE1 X +NX_O15551 220 23319 8.37 4 Tight junction;Cell membrane;Cell junction NA PE1 7 +NX_O15552 330 37144 9.5 7 Cell membrane NA PE1 19 +NX_O15553 781 86444 8.3 0 Ruffle;Cytoplasm;Nucleus;Autophagosome;Lamellipodium;Cytoskeleton Familial Mediterranean fever, autosomal dominant;Familial Mediterranean fever, autosomal recessive PE1 16 +NX_O15554 427 47696 9.87 6 Cell membrane Dehydrated hereditary stomatocytosis 2 PE1 19 +NX_O42043 560 63671 7.83 1 Virion;Cell membrane NA PE1 1 +NX_O43143 795 90933 7.12 0 Nucleus speckle;Nucleolus;Nucleus NA PE1 4 +NX_O43147 1006 113285 6.2 0 Nucleoplasm;Cytoplasm;Melanosome;Cytosol NA PE1 17 +NX_O43148 476 54844 6.29 0 Nucleoplasm;Nucleus NA PE1 18 +NX_O43149 2961 331075 5.62 0 Mitochondrion;Nucleoplasm NA PE1 17 +NX_O43150 1006 111651 6.24 0 Cytosol;Cytoplasm;Cell membrane;Golgi stack membrane NA PE1 2 +NX_O43151 1660 179350 7.01 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm;Nucleus;Chromosome NA PE1 2 +NX_O43155 660 74049 7.88 1 Endoplasmic reticulum membrane;Synaptosome;Extracellular matrix;Secreted;Cell membrane;Focal adhesion;Microsome membrane NA PE1 14 +NX_O43156 1089 122069 5.63 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle NA PE1 20 +NX_O43157 2135 232298 5.29 1 Cell membrane;Secreted NA PE1 3 +NX_O43159 456 50715 9.51 0 Cytosol;Nucleolus;Nucleus NA PE1 11 +NX_O43164 708 78214 4.28 0 Endoplasmic reticulum membrane;Synapse;Cytoplasm;Cell membrane;Golgi apparatus membrane;Postsynaptic density;Cytoskeleton NA PE1 5 +NX_O43166 1804 200029 8.4 0 Synaptosome;Cytoskeleton;Cell membrane;Postsynaptic density NA PE1 14 +NX_O43167 697 78282 7.42 0 Cytoskeleton;Nucleus;Centrosome Immunodeficiency-centromeric instability-facial anomalies syndrome 2 PE1 6 +NX_O43169 146 16332 4.88 1 Cytosol;Mitochondrion outer membrane;Endoplasmic reticulum;Microtubule organizing center NA PE1 16 +NX_O43172 522 58449 7.05 0 Nucleus speckle;Nucleus Retinitis pigmentosa 70 PE1 9 +NX_O43173 380 43970 9.56 1 Golgi apparatus membrane;Golgi apparatus NA PE1 18 +NX_O43174 497 56199 8.96 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 10 +NX_O43175 533 56650 6.29 0 Nucleoplasm;Cytosol;Cell membrane Neu-Laxova syndrome 1;Phosphoglycerate dehydrogenase deficiency PE1 1 +NX_O43181 175 20108 10.3 0 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency;Leigh syndrome PE1 5 +NX_O43182 974 105947 7 0 Cytoplasm NA PE1 X +NX_O43184 909 99542 8.79 1 Cell membrane;Secreted NA PE1 10 +NX_O43186 299 32261 9.23 0 Nucleus Cone-rod dystrophy 2;Retinitis pigmentosa;Leber congenital amaurosis 7 PE1 19 +NX_O43187 625 69433 5.51 0 Cytoplasmic vesicle NA PE1 3 +NX_O43189 567 62106 9.27 0 Nucleoplasm;Nucleus;Centrosome NA PE1 6 +NX_O43193 412 45344 9.97 7 Cell membrane NA PE2 13 +NX_O43194 453 51329 9.43 7 Cell membrane NA PE1 2 +NX_O43196 834 92875 5.95 0 Cytoplasmic vesicle;Endoplasmic reticulum Premature ovarian failure 13 PE1 6 +NX_O43236 478 55098 5.77 0 Flagellum;Nucleoplasm;Cytoplasm;Nucleus;Mitochondrion;Cytoskeleton NA PE1 17 +NX_O43237 492 54099 5.97 0 Cytosol;Cytoskeleton;Centrosome NA PE1 16 +NX_O43240 276 30170 8.95 0 Cytosol;Cell membrane;Secreted NA PE1 19 +NX_O43242 534 60978 8.47 0 Cytosol;Nucleoplasm NA PE1 17 +NX_O43246 635 68268 6.59 13 Membrane NA PE1 22 +NX_O43247 280 30725 7.77 0 NA NA PE1 22 +NX_O43248 304 33748 8.81 0 Cytosol;Nucleoplasm;Nucleus NA PE1 12 +NX_O43251 390 41374 6.71 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 22 +NX_O43252 624 70833 6.4 0 Nucleolus;Nucleus NA PE1 4 +NX_O43255 324 34615 6.71 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA PE1 3 +NX_O43257 154 17536 9.55 0 Nucleoplasm;Nucleus NA PE1 7 +NX_O43261 78 8962 5.14 0 Cytosol;Cell membrane NA PE1 13 +NX_O43264 779 88829 5.89 0 Endoplasmic reticulum membrane;Kinetochore;Cytosol;Cytoplasm;Endoplasmic reticulum;Spindle NA PE1 11 +NX_O43272 600 68002 7.96 0 Mitochondrion matrix Hyperprolinemia 1;Schizophrenia 4 PE1 22 +NX_O43278 529 58398 5.89 0 Nucleoplasm;Cytosol;Cell membrane;Secreted NA PE1 15 +NX_O43280 583 66568 5.46 0 Cell membrane Trehalase deficiency PE1 11 +NX_O43281 561 58815 4.98 0 Nucleoplasm;Cytosol NA PE1 14 +NX_O43283 966 108296 6.05 0 Nucleoplasm;Cytoplasm;Membrane;Cytosol;Microtubule organizing center NA PE1 3 +NX_O43286 388 45119 8.21 1 Golgi stack membrane NA PE1 20 +NX_O43290 800 90255 5.89 0 Nucleus speckle;Nucleus;Golgi apparatus NA PE1 11 +NX_O43291 252 28228 8.68 1 Cytosol;Cytoskeleton;Cell membrane;Membrane Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies PE1 19 +NX_O43292 621 67623 8.15 7 Endoplasmic reticulum membrane Glycosylphosphatidylinositol biosynthesis defect 15 PE1 8 +NX_O43293 454 52536 6.44 0 Cytoplasm;Nucleus NA PE1 19 +NX_O43294 461 49814 6.62 0 Cytosol;Cytoskeleton;Nucleus matrix;Focal adhesion NA PE1 16 +NX_O43295 1099 124504 6.23 0 Nucleoplasm NA PE1 3 +NX_O43296 627 70587 7.36 0 Nucleus NA PE1 19 +NX_O43298 467 52630 5.46 0 Nucleolus;Nucleus NA PE1 9 +NX_O43299 807 88605 6.57 0 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle Spastic paraplegia 48, autosomal recessive PE1 7 +NX_O43300 516 59076 8.27 1 Postsynaptic cell membrane;Cell membrane NA PE1 5 +NX_O43301 675 74978 6.32 0 Cytosol;Golgi apparatus NA PE1 10 +NX_O43303 1012 113424 8.83 0 Centriole;Centrosome;Cilium basal body NA PE1 16 +NX_O43304 696 78942 6.08 0 Cytosol;Golgi apparatus NA PE1 16 +NX_O43306 1168 130615 8.56 12 Cell membrane;Stereocilium;Cilium;Golgi apparatus Lethal congenital contracture syndrome 8 PE1 12 +NX_O43307 516 60982 5.47 0 Cytosol;Postsynaptic density;Cytoplasm Epileptic encephalopathy, early infantile, 8 PE1 X +NX_O43309 604 70222 6.28 0 Cytosol;Cytoskeleton;Nucleus NA PE1 6 +NX_O43310 598 67587 6.1 0 Cytosol;Perinuclear region NA PE1 18 +NX_O43312 755 82251 6.47 0 Cytoskeleton NA PE1 8 +NX_O43313 823 88348 5.02 0 Nucleus NA PE1 16 +NX_O43314 1243 140407 8.47 0 Cytoplasmic vesicle;Cytosol NA PE1 5 +NX_O43315 295 31431 7.67 6 Membrane NA PE1 15 +NX_O43316 350 37833 9.42 0 Nucleus Maturity-onset diabetes of the young 9;Diabetes mellitus, insulin-dependent;Diabetes mellitus, non-insulin-dependent;Diabetes mellitus, ketosis-prone PE1 7 +NX_O43318 606 67196 6.69 0 Cytosol;Cytoplasm;Cell membrane;Nucleus speckle Cardiospondylocarpofacial syndrome;Frontometaphyseal dysplasia 2 PE1 6 +NX_O43320 207 23759 9.22 0 Secreted Metacarpal 4-5 fusion PE1 X +NX_O43323 396 43577 9.4 0 Extracellular space;Cell membrane 46,XY sex reversal 7;Partial gonadal dysgenesis with minifascicular neuropathy 46,XY PE1 12 +NX_O43324 174 19811 8.55 0 Cytosol;Cytoplasm;Nucleus NA PE1 6 +NX_O43325 122 14282 9.95 0 Nucleoplasm;Nucleus;Midbody NA PE1 16 +NX_O43345 1280 147487 9.2 0 Nucleus NA PE2 19 +NX_O43347 362 39125 7.7 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA PE1 12 +NX_O43353 540 61195 6.63 0 Cytosol;Cytoplasm NA PE1 8 +NX_O43361 778 90364 9.01 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE1 19 +NX_O43364 376 41002 5.54 0 Cytoplasmic vesicle;Nucleus Microtia, hearing impairment, and cleft palate;Microtia with or without hearing impairment PE1 7 +NX_O43365 443 46369 9.3 0 Nucleoplasm;Nucleus NA PE1 7 +NX_O43374 803 90458 8.01 0 Cytosol;Cell membrane NA PE2 7 +NX_O43379 1518 165954 5.57 0 Cytosol;Spindle pole;Centriole;Nucleus;Microtubule organizing center;Centrosome Microcephaly 2, primary, autosomal recessive, with or without cortical malformations PE1 19 +NX_O43390 633 70943 8.23 0 Nucleoplasm;Cytoplasm;Nucleus;Microsome NA PE1 1 +NX_O43395 683 77529 9.5 0 Nucleoplasm;Nucleus speckle;Nucleus Retinitis pigmentosa 18 PE1 1 +NX_O43396 289 32251 4.84 0 Cytosol;Cytoplasm;Nucleus NA PE1 18 +NX_O43399 206 22238 5.26 0 Cytosol;Cytoplasmic vesicle NA PE1 20 +NX_O43402 210 23773 5.92 0 Mitochondrion;Cytoplasm;Cytosol NA PE1 16 +NX_O43405 550 59483 8.17 0 Cytoplasmic vesicle;Extracellular matrix Deafness, autosomal dominant, 9 PE1 14 +NX_O43414 337 37238 8.33 0 Cytosol;Nucleoplasm NA PE1 1 +NX_O43422 761 87704 5.58 0 Nucleoplasm NA PE1 11 +NX_O43423 234 26762 4.14 0 NA NA PE1 4 +NX_O43424 1007 113356 5.73 3 Postsynaptic cell membrane;Cell membrane Spinocerebellar ataxia, autosomal recessive, 18 PE1 4 +NX_O43426 1573 173103 7.13 0 Nucleoplasm;Cytosol;Perinuclear region;Centrosome Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset PE1 21 +NX_O43427 364 41878 6.02 0 Nucleus speckle;Nucleus;Endomembrane system Thauvin-Robinet-Faivre syndrome PE1 11 +NX_O43432 1585 176652 5.27 0 Cytosol;Cytoplasm NA PE1 1 +NX_O43435 398 43133 8.37 0 Cytosol;Nucleus Velocardiofacial syndrome;DiGeorge syndrome;Conotruncal heart malformations PE1 22 +NX_O43439 604 67133 8.32 0 Nucleus speckle;Nucleus NA PE1 20 +NX_O43447 177 19208 8.28 0 Cytoplasm;Nucleus speckle NA PE1 1 +NX_O43448 404 43670 8.87 0 Mitochondrion;Cytoplasm NA PE2 17 +NX_O43451 1857 209852 5.27 1 Apical cell membrane NA PE1 7 +NX_O43462 519 57444 7.21 10 Cytosol;Cytoplasm;Mitochondrion;Nucleoplasm;Membrane Olmsted syndrome, X-linked;Keratosis follicularis spinulosa decalvans X-linked;Osteogenesis imperfecta 19;IFAP syndrome with or without BRESHECK syndrome PE1 X +NX_O43463 412 47907 8.38 0 Nucleoplasm;Centromere;Nucleus;Nucleus lamina NA PE1 X +NX_O43464 458 48841 10.07 1 Mitochondrion;Mitochondrion membrane;Mitochondrion intermembrane space 3-methylglutaconic aciduria 8;Parkinson disease 13 PE1 2 +NX_O43474 513 54671 8.69 0 Nucleoplasm;Nucleus NA PE1 9 +NX_O43482 229 24691 7.02 0 Nucleoplasm;Centromere;Nucleus;Chromosome NA PE1 15 +NX_O43488 359 39589 6.7 0 Cytoplasm;Golgi apparatus NA PE1 1 +NX_O43490 865 97202 6.97 5 Endoplasmic reticulum-Golgi intermediate compartment;Apical cell membrane;Photoreceptor outer segment;Golgi apparatus;Endoplasmic reticulum;Microvillus membrane;Cell membrane Retinitis pigmentosa 41;Retinal macular dystrophy 2;Cone-rod dystrophy 12;Stargardt disease 4 PE1 4 +NX_O43491 1005 112588 5.34 0 Nucleus;Cytoskeleton;Cell cortex;Cell junction;Cell membrane NA PE1 6 +NX_O43493 479 51019 5.53 1 Nucleoplasm;trans-Golgi network membrane;Golgi apparatus;Cell membrane NA PE1 2 +NX_O43497 2377 262472 6.14 24 Cytoplasm;Cell membrane Spinocerebellar ataxia 42 PE1 17 +NX_O43502 376 42190 6.28 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Perinuclear region;Nucleus;Mitochondrion;Cell junction Fanconi anemia complementation group O;Breast-ovarian cancer, familial, 3 PE1 17 +NX_O43504 91 9614 4.69 0 Cytoplasm;Lysosome NA PE1 1 +NX_O43505 415 47119 6.77 1 Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 PE1 11 +NX_O43506 726 81603 6.02 1 Membrane NA PE2 14 +NX_O43508 249 27216 9.5 1 Cell membrane;Secreted NA PE1 17 +NX_O43511 780 85723 6.04 12 Cell membrane;Membrane Pendred syndrome;Deafness, autosomal recessive, 4 PE1 7 +NX_O43513 233 27245 5.5 0 Nucleus NA PE1 5 +NX_O43516 503 51258 11.47 0 Cytoplasmic vesicle;Cytosol;Cytoskeleton;Ruffle;Cell membrane Wiskott-Aldrich syndrome 2 PE1 2 +NX_O43520 1251 143695 6.77 10 Golgi apparatus;Apical cell membrane;Endoplasmic reticulum;Cell membrane;Stereocilium Cholestasis, benign recurrent intrahepatic, 1;Cholestasis, progressive familial intrahepatic, 1;Cholestasis of pregnancy, intrahepatic 1 PE1 18 +NX_O43521 198 22171 8.43 0 Mitochondrion;Endomembrane system NA PE1 2 +NX_O43524 673 71277 4.98 0 Mitochondrion matrix;Cytosol;Nucleus;Mitochondrion outer membrane NA PE1 6 +NX_O43525 872 96742 8.98 6 Cell membrane Seizures, benign familial neonatal 2 PE1 8 +NX_O43526 872 95848 9.35 6 Endoplasmic reticulum;Cell membrane Epileptic encephalopathy, early infantile, 7;Seizures, benign familial neonatal 1 PE1 20 +NX_O43529 356 42207 8.11 1 Cytosol;Golgi apparatus membrane NA PE1 2 +NX_O43541 496 53497 8.46 0 Nucleus;Golgi apparatus Craniosynostosis 7;Aortic valve disease 2 PE1 15 +NX_O43542 346 37850 8.81 0 Mitochondrion;Cytoplasm;Perinuclear region;Nucleus Breast cancer;Melanoma, cutaneous malignant 6 PE1 14 +NX_O43543 280 31956 5.67 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Centrosome Fanconi anemia, complementation group U PE1 7 +NX_O43548 720 80778 6.01 0 Cytoplasm Peeling skin syndrome 2 PE1 15 +NX_O43555 120 12918 11.12 0 Secreted NA PE2 20 +NX_O43556 437 49851 6.12 1 Golgi apparatus;Nucleoplasm;Cell membrane;Cytoplasmic vesicle;Dendrite;Sarcolemma;Cytoskeleton Dystonia 11, myoclonic PE1 7 +NX_O43557 240 26350 9.09 1 Cytoplasm;Cell membrane;Secreted NA PE1 19 +NX_O43559 492 54462 6.81 0 Nucleoplasm;Membrane NA PE1 6 +NX_O43561 262 27930 4.27 1 Cell membrane;Golgi apparatus Immunodeficiency 52 PE1 16 +NX_O43566 566 61447 8.46 0 PML body;Nucleoplasm;Cytoplasm;Cell membrane;Centrosome;Cytoplasmic vesicle;Dendrite;Nucleus;Dendritic spine;Membrane;Postsynaptic density;Spindle;Spindle pole NA PE1 5 +NX_O43567 381 42814 4.83 1 Endoplasmic reticulum membrane;Lysosome membrane;Cytosol;Cytoplasmic vesicle;Nucleoplasm;Late endosome membrane;Golgi apparatus membrane;Nucleus inner membrane NA PE1 3 +NX_O43570 354 39451 6.73 1 Cytoplasmic vesicle;Nucleus;Membrane Hyperchlorhidrosis, isolated PE1 15 +NX_O43572 662 73818 5.96 0 Mitochondrion;Cytoplasm;Cytosol;Cell membrane;Membrane Sudden cardiac death PE1 17 +NX_O43581 403 45501 9.29 1 Synaptic vesicle membrane;Lysosome membrane;Cell membrane;Peroxisome membrane;Presynaptic cell membrane;Phagosome membrane;Secretory vesicle membrane NA PE1 11 +NX_O43583 198 22092 5.21 0 Cytosol NA PE1 12 +NX_O43586 416 47591 5.35 0 Uropodium;Cleavage furrow;Cytoplasm;Cell membrane;Perinuclear region;Lamellipodium;Cytoskeleton PAPA syndrome PE1 15 +NX_O43592 962 109964 5.24 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 12 +NX_O43593 1189 127495 6.67 0 Nucleoplasm;Nucleus Hypotrichosis 4;Alopecia universalis congenita;Atrichia with papular lesions PE1 8 +NX_O43597 315 34688 8.78 0 Endosome;Cytoskeleton;Ruffle membrane IgA nephropathy 3 PE1 13 +NX_O43598 174 19108 4.97 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 6 +NX_O43602 365 40574 9.33 0 Cytosol;Cytoplasm;Cell projection Lissencephaly, X-linked 1;Subcortical band heterotopia X-linked PE1 X +NX_O43603 387 41700 9.6 7 Cell membrane NA PE1 17 +NX_O43609 319 35122 8.65 0 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus;Membrane NA PE1 4 +NX_O43610 288 31222 7.4 0 Cytosol;Cytoplasm;Nucleolus;Membrane NA PE1 X +NX_O43612 131 13363 10.8 0 Cytoplasmic vesicle;Synapse;Rough endoplasmic reticulum Narcolepsy 1 PE1 17 +NX_O43613 425 47536 9.3 7 Cell membrane NA PE1 1 +NX_O43614 444 50694 8.99 7 Cell membrane NA PE1 6 +NX_O43615 452 51356 8.51 0 Mitochondrion;Mitochondrion matrix;Mitochondrion inner membrane NA PE1 19 +NX_O43617 180 20274 4.88 0 Cytosol;Endoplasmic reticulum;Golgi apparatus;cis-Golgi network NA PE1 1 +NX_O43623 268 29986 9.01 0 Cytoplasm;Nucleus Piebald trait;Waardenburg syndrome 2D PE1 8 +NX_O43633 222 25104 5.87 0 Cytosol;Late endosome membrane;Nucleus;Cell membrane NA PE1 19 +NX_O43638 330 35434 9.28 0 Cytosol;Nucleoplasm;Nucleus NA PE1 20 +NX_O43639 380 42915 6.49 0 Cytoplasm;Endoplasmic reticulum NA PE1 2 +NX_O43653 114 11959 4.75 0 Cell membrane NA PE1 8 +NX_O43657 245 27563 8.44 4 Cytosol;Membrane NA PE1 X +NX_O43660 514 57194 9.24 0 Nucleus speckle;Nucleus;Nucleus membrane NA PE1 4 +NX_O43663 620 71607 6.29 0 Cytoplasm;Nucleus;Midbody;Spindle pole NA PE1 15 +NX_O43665 173 20236 5.35 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 10 +NX_O43670 478 50751 9.19 0 Kinetochore;Spindle;Nucleus NA PE1 17 +NX_O43674 189 21750 9.62 1 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane NA PE1 3 +NX_O43676 98 11402 9.19 1 Mitochondrion inner membrane Mitochondrial complex I deficiency PE1 2 +NX_O43677 76 8734 10.2 1 Mitochondrion;Mitochondrion inner membrane;Cell membrane NA PE1 4 +NX_O43678 99 10922 9.62 0 Mitochondrion inner membrane NA PE1 5 +NX_O43679 373 42793 6.47 0 Nucleolus;Nucleus;Cell membrane NA PE1 4 +NX_O43680 179 19715 9.15 0 Nucleus NA PE2 6 +NX_O43681 348 38793 4.81 0 Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA PE1 19 +NX_O43683 1085 122375 6.03 0 Cytosol;Kinetochore;Nucleus;Nucleoplasm NA PE1 2 +NX_O43684 328 37155 6.36 0 Nucleoplasm;Kinetochore;Nucleus NA PE1 10 +NX_O43687 104 11465 4.89 0 Apical cell membrane;Lateral cell membrane NA PE1 6 +NX_O43688 288 32574 8.65 6 Mitochondrion;Membrane NA PE1 19 +NX_O43692 258 29065 8.37 0 Cytosol;Cytoplasmic vesicle;Secreted NA PE1 8 +NX_O43699 453 49913 6.7 1 Cell membrane;Secreted NA PE1 19 +NX_O43704 296 34899 6.57 0 Nucleoplasm;Cytoplasm;Golgi apparatus NA PE1 4 +NX_O43707 911 104854 5.27 0 Cytosol;Cytoplasm;Nucleus;Cell junction;Stress fiber Focal segmental glomerulosclerosis 1 PE1 19 +NX_O43708 216 24212 8.8 0 Cytosol;Cytoplasm;Nucleus Maleylacetoacetate isomerase deficiency PE1 14 +NX_O43709 281 31880 8.95 0 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleolus;Nucleus NA PE1 7 +NX_O43711 291 31867 9.95 0 Nucleoplasm;Nucleus NA PE1 5 +NX_O43715 76 8786 5.37 0 Mitochondrion;Nucleoplasm;Perinuclear region;Mitochondrion intermembrane space NA PE1 12 +NX_O43716 136 15086 4.94 0 Mitochondrion NA PE1 12 +NX_O43719 755 85853 4.29 0 Nucleoplasm;Nucleus NA PE1 X +NX_O43731 214 25027 9.07 7 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 22 +NX_O43734 574 64666 6.27 0 Cytoplasmic vesicle;Golgi apparatus Candidiasis, familial, 8;Psoriasis 13 PE1 6 +NX_O43736 263 29741 5.65 1 Nucleoplasm;Membrane NA PE1 X +NX_O43739 400 46349 5.35 0 Cytosol;Nucleoplasm;Tight junction;Cell membrane;Adherens junction NA PE1 7 +NX_O43741 272 30302 5.99 0 Nucleoplasm NA PE1 1 +NX_O43745 196 22452 5.89 0 Cytoplasm;Nucleus;Cell membrane NA PE1 16 +NX_O43747 822 91351 6.36 0 Cytosol;Cytoplasmic vesicle;Golgi apparatus;Clathrin-coated vesicle membrane NA PE1 16 +NX_O43749 312 34866 7.59 7 Cell membrane NA PE2 16 +NX_O43752 255 29176 4.84 1 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus NA PE1 1 +NX_O43759 233 25456 4.5 4 Cytosol;Synaptic vesicle membrane;Melanosome NA PE1 22 +NX_O43760 224 24810 4.75 4 Cytoplasmic vesicle membrane;Lipid droplet;Synaptic vesicle membrane NA PE1 17 +NX_O43761 229 24555 8.42 4 Synaptic vesicle membrane;Synapse;Cell membrane NA PE1 16 +NX_O43763 284 30251 11.09 0 Nucleoplasm;Nucleus NA PE1 2 +NX_O43765 313 34063 4.81 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 19 +NX_O43766 372 41911 8.84 0 Mitochondrion;Nucleoplasm Hyperglycinemia, lactic acidosis, and seizures PE1 4 +NX_O43768 121 13389 6.62 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA PE1 1 +NX_O43772 301 32944 9.48 6 Cytosol;Mitochondrion;Mitochondrion inner membrane Carnitine-acylcarnitine translocase deficiency PE1 3 +NX_O43776 548 62943 5.9 0 Cytosol;Cytoplasm NA PE1 18 +NX_O43781 588 65714 9.41 0 Nucleus speckle;Cytoplasmic granule;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Centrosome NA PE1 1 +NX_O43790 486 53501 5.56 0 Cytosol Monilethrix PE1 12 +NX_O43791 374 42132 5.58 0 Nucleus speckle;Nucleus NA PE1 17 +NX_O43795 1136 131985 9.43 0 Cell membrane NA PE1 2 +NX_O43805 119 13596 5.37 0 Nucleus;Centrosome NA PE1 9 +NX_O43808 307 34567 10.09 6 Cytoplasm;Peroxisome membrane;Peroxisome NA PE1 22 +NX_O43809 227 26227 8.85 0 Cytoplasm;Nucleus;Centrosome;Microtubule organizing center NA PE1 16 +NX_O43812 170 19347 11.17 0 Nucleus NA PE1 10 +NX_O43813 399 45283 7.86 0 Cytoplasm;Cytoskeleton;Cell membrane NA PE1 2 +NX_O43815 780 86132 5.12 0 Nucleoplasm;Cytoplasm;Cytosol;Dendritic spine;Membrane NA PE1 2 +NX_O43818 475 51841 7.97 0 Nucleolus;Nucleus NA PE1 3 +NX_O43819 266 29810 9.01 1 Mitochondrion;Mitochondrion inner membrane Myopia 6;Leigh syndrome;Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 PE1 22 +NX_O43820 417 46501 8.55 0 Cell membrane;Secreted;Acrosome;Endoplasmic reticulum;Early endosome NA PE1 3 +NX_O43822 256 28340 6.97 0 Mitochondrion;Cytoplasm;Nucleoplasm;Photoreceptor outer segment;Cilium basal body Retinal dystrophy with or without macular staphyloma;Spondylometaphyseal dysplasia, axial PE1 21 +NX_O43823 692 76108 5.03 0 Nucleoplasm;Nucleus matrix;Nucleolus;Nucleus;Cytoplasm NA PE1 19 +NX_O43824 516 56897 9.49 0 Mitochondrion NA PE1 X +NX_O43825 422 49213 9.5 1 Golgi apparatus membrane NA PE1 1 +NX_O43826 429 46360 8.85 10 Endoplasmic reticulum membrane;Mitochondrion Glycogen storage disease 1D;Glycogen storage disease 1C;Glycogen storage disease 1B PE1 11 +NX_O43827 346 40018 7.98 0 Secreted NA PE1 1 +NX_O43829 449 50956 5.69 0 Cytosol;Nucleolus;Nucleus NA PE1 18 +NX_O43830 326 38241 9.35 0 Nucleus NA PE3 22 +NX_O43837 385 42184 8.64 0 Mitochondrion Retinitis pigmentosa 46 PE1 20 +NX_O43847 1151 131701 4.88 0 Nucleoplasm NA PE1 1 +NX_O43852 315 37107 4.47 0 Endoplasmic reticulum membrane;Melanosome;Golgi apparatus;Secreted;Sarcoplasmic reticulum lumen;Endoplasmic reticulum NA PE1 7 +NX_O43854 480 53765 7.08 0 Secreted NA PE1 5 +NX_O43861 1147 129304 7.67 10 trans-Golgi network membrane NA PE1 18 +NX_O43865 530 58951 6.49 0 Cytosol;Apical cell membrane;Microsome;Endoplasmic reticulum NA PE1 1 +NX_O43866 347 38088 5.28 0 Cytoplasm;Secreted NA PE1 1 +NX_O43868 658 71926 8.29 14 Membrane NA PE2 15 +NX_O43869 369 41996 8.71 7 Cell membrane NA PE3 1 +NX_O43889 371 41379 4.82 1 Endoplasmic reticulum membrane;Cytosol;Nucleus;Golgi apparatus;Cytoplasm NA PE1 9 +NX_O43895 674 75625 5.69 0 Cell membrane Angioedema induced by ACE inhibitors PE1 X +NX_O43896 1103 122947 6.47 0 Cytoskeleton Spastic ataxia 2, autosomal recessive PE1 17 +NX_O43897 1013 114709 5.69 0 Cytoplasmic vesicle;Secreted Atrial septal defect 6 PE1 4 +NX_O43900 615 68609 8.24 0 Cytoplasm;Nucleus;Centrosome;Cell membrane NA PE1 X +NX_O43903 313 34945 8.76 0 Nucleolus;Stress fiber;Cytosol;Cell membrane;Nucleus;Membrane NA PE1 11 +NX_O43908 158 18234 9.28 1 Membrane NA PE2 12 +NX_O43909 919 104749 6.08 1 Endoplasmic reticulum membrane;Golgi apparatus Immunoskeletal dysplasia with neurodevelopmental abnormalities PE1 8 +NX_O43913 435 50283 7.63 0 Cytosol;Nucleus NA PE1 7 +NX_O43914 113 12179 8.55 1 Membrane Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy PE1 19 +NX_O43915 354 40444 8.16 0 Secreted NA PE1 X +NX_O43916 411 46715 9.17 1 Golgi apparatus membrane NA PE1 11 +NX_O43918 545 57727 7.53 0 Cytoplasm;Nucleus Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia PE1 21 +NX_O43920 106 12518 9.27 0 Mitochondrion inner membrane;Mitochondrion intermembrane space NA PE1 1 +NX_O43921 213 23878 6.99 0 Cytosol;Mitochondrion;Cell membrane NA PE1 19 +NX_O43924 150 17420 5.57 0 Cytosol;Cytoplasmic vesicle membrane;Cilium basal body Joubert syndrome 22 PE1 2 +NX_O43927 109 12664 10.35 0 Secreted NA PE1 4 +NX_O43929 436 50377 8.08 0 Nucleolus;Nucleus Meier-Gorlin syndrome 2 PE1 2 +NX_O43930 277 31708 6.46 0 NA NA PE5 Y +NX_O43933 1283 142867 5.91 0 Cytoplasm;Peroxisome membrane;Peroxisome Peroxisome biogenesis disorder 1A;Peroxisome biogenesis disorder 1B;Peroxisome biogenesis disorder complementation group 1;Heimler syndrome 1 PE1 7 +NX_O43934 449 49202 5.48 12 Nucleus speckle;Membrane NA PE1 17 +NX_O60216 631 71690 4.54 0 Nucleoplasm;Nucleus;Centromere;Chromosome Cornelia de Lange syndrome 4 PE1 8 +NX_O60218 316 36020 7.66 0 Secreted;Lysosome NA PE1 7 +NX_O60220 97 10998 5.08 0 Mitochondrion;Mitochondrion inner membrane Mohr-Tranebjaerg syndrome PE1 X +NX_O60224 188 21858 9.16 0 NA NA PE1 X +NX_O60225 188 21660 9.35 0 NA NA PE1 X +NX_O60229 2985 340174 5.72 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleoplasm Coronary heart disease 5 PE1 3 +NX_O60231 1041 119264 6.39 0 Nucleoplasm;Nucleus NA PE1 6 +NX_O60232 199 21474 5.12 0 Cytosol NA PE1 11 +NX_O60234 142 16801 5.18 0 NA NA PE1 19 +NX_O60235 418 46263 8.69 1 Cell membrane;Secreted NA PE1 4 +NX_O60237 982 110404 5.53 0 Cytoskeleton;Cell membrane;Stress fiber NA PE1 1 +NX_O60238 219 23930 5.52 1 Nucleus speckle;Cytoplasm;Nucleus envelope;Endoplasmic reticulum;Mitochondrion outer membrane;Nucleus;Membrane;Mitochondrion NA PE1 8 +NX_O60239 455 50425 4.92 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 3 +NX_O60240 522 55990 6.03 0 Lipid droplet;Endoplasmic reticulum;Peroxisome Lipodystrophy, familial partial, 4 PE1 15 +NX_O60241 1585 172656 7.5 7 Centrosome;Cell membrane NA PE1 1 +NX_O60242 1522 171518 6.69 7 Cell membrane NA PE1 6 +NX_O60243 411 48226 9.04 1 Nucleoplasm;Membrane Hypogonadotropic hypogonadism 15 with or without anosmia PE1 2 +NX_O60244 1454 160607 8.97 0 Nucleoplasm;Nucleus NA PE1 X +NX_O60245 1069 116071 5.02 1 Cell junction;Cell membrane NA PE1 4 +NX_O60248 233 25251 9.78 0 Cytoplasmic vesicle;Nucleolus;Nucleus;Golgi apparatus NA PE1 17 +NX_O60256 369 40926 7.08 0 Nucleoplasm;Cytosol NA PE1 17 +NX_O60258 216 24891 10.43 0 Secreted Hypogonadotropic hypogonadism 20 with or without anosmia PE1 8 +NX_O60259 260 28048 7.52 0 Cytoplasmic vesicle;Cytoplasm;Secreted NA PE1 19 +NX_O60260 465 51641 6.71 0 Cytosol;Mitochondrion;Nucleus;Endoplasmic reticulum;Nucleus speckle Parkinson disease;Parkinson disease 2 PE1 6 +NX_O60262 68 7522 8.71 0 Cell membrane NA PE1 19 +NX_O60264 1052 121905 8.27 0 Nucleolus;Nucleus NA PE1 4 +NX_O60266 1144 128960 6.15 12 Cytoplasm;Golgi apparatus;Cilium;Cell membrane Obesity PE1 2 +NX_O60268 411 46639 4.98 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 16 +NX_O60269 458 47450 6.28 0 NA NA PE1 10 +NX_O60271 1321 146205 5.05 0 Cytosol;Cytoplasm;Perinuclear region;Acrosome;Microtubule organizing center NA PE1 17 +NX_O60279 629 68021 4.79 1 Cytoplasmic vesicle;Golgi apparatus;Membrane NA PE1 3 +NX_O60281 2723 304816 7.27 0 Nucleus;Nucleus membrane NA PE1 6 +NX_O60282 957 109495 5.86 0 Cytoplasmic vesicle;Dendrite;Cytoskeleton Cortical dysplasia, complex, with other brain malformations 2 PE1 2 +NX_O60284 1047 115155 5.72 0 Nucleus NA PE1 8 +NX_O60285 661 74305 8.97 0 Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA PE1 12 +NX_O60287 2271 254389 6.03 0 Nucleolus NA PE1 21 +NX_O60290 1169 131654 6.87 0 Mitochondrion;Nucleus NA PE2 7 +NX_O60291 552 60753 5.01 0 Cytosol;Nucleus;Cell membrane;Early endosome NA PE1 16 +NX_O60292 1781 194610 8.57 0 Nucleus speckle;Apical cell membrane;Nucleus membrane Cataract 45 PE1 19 +NX_O60293 1989 226356 8.39 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 12 +NX_O60294 686 75602 6.25 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 15 +NX_O60296 914 101419 5.15 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Early endosome;Mitochondrion NA PE1 2 +NX_O60299 673 71791 7.56 0 Cytoplasmic vesicle;Postsynaptic density;Cytoskeleton;Synapse NA PE1 20 +NX_O60303 1618 180918 5.57 0 Nucleus speckle;Cytoskeleton;Cilium axoneme;Cell membrane;Cilium basal body Joubert syndrome 26 PE1 16 +NX_O60304 480 53674 6.84 0 Nucleoplasm;Cytosol;Nucleus NA PE1 16 +NX_O60306 1485 171295 5.96 0 Nucleoplasm;Nucleus NA PE1 15 +NX_O60307 1309 143137 8.24 0 Nucleus speckle NA PE1 19 +NX_O60308 925 104448 7.54 0 Centriole;Centrosome;Spindle pole;Cilium Joubert syndrome 25 PE1 1 +NX_O60309 1634 180621 5.2 1 Membrane NA PE1 17 +NX_O60312 1499 167688 8.7 10 Endoplasmic reticulum membrane;Cell membrane Angelman syndrome PE1 15 +NX_O60313 960 111631 7.87 1 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane;Mitochondrion membrane;Mitochondrion intermembrane space Behr syndrome;Dominant optic atrophy plus syndrome;Optic atrophy 1;Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type PE1 3 +NX_O60315 1214 136447 5.9 0 Cytosol;Nucleolus;Nucleus Mowat-Wilson syndrome PE1 2 +NX_O60318 1980 218405 5.99 0 Nucleus membrane;Cytosol;Cytoplasm;Nuclear pore complex;Nucleus envelope;Nucleoplasm;Nucleus NA PE1 21 +NX_O60320 539 56544 5.18 4 Nucleus;Membrane NA PE2 15 +NX_O60330 932 100955 4.9 1 Cell membrane NA PE1 5 +NX_O60331 668 73260 5.17 0 Phagocytic cup;Uropodium;Nucleoplasm;Cytoplasm;Cell membrane;Endomembrane system;Cytosol;Focal adhesion;Nucleus;Ruffle membrane;Adherens junction Lethal congenital contracture syndrome 3 PE1 19 +NX_O60333 1816 204476 5.42 0 Cytoplasmic vesicle;Mitochondrion;Cytoskeleton;Nucleolus;Cytosol Pheochromocytoma;Neuroblastoma 1;Charcot-Marie-Tooth disease 2A1 PE1 1 +NX_O60336 1514 163818 6.31 0 Cytoplasm;Nucleolus;Nucleus;Spindle pole Nephronophthisis 20 PE1 15 +NX_O60337 910 102545 5.85 14 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 5 +NX_O60341 852 92903 6.11 0 Nucleoplasm;Cytosol;Nucleus Cleft palate, psychomotor retardation, and distinctive facial features PE1 1 +NX_O60343 1298 146563 6.57 0 Cytosol;Cytoplasm Diabetes mellitus, non-insulin-dependent, 5 PE1 13 +NX_O60346 1717 184672 5.88 0 Cytoplasm;Nucleus;Cell membrane;Membrane NA PE1 18 +NX_O60347 775 85626 5.56 0 Nucleoplasm;Nucleus speckle NA PE1 10 +NX_O60353 706 79292 8.29 7 Cell surface;Cytoplasmic vesicle membrane;Apical cell membrane;Cell membrane;Membrane Nail disorder, non-syndromic congenital, 10 PE1 8 +NX_O60356 82 8873 9.98 0 Cytosol;Nucleus NA PE1 16 +NX_O60359 315 35549 9.53 4 Membrane NA PE1 16 +NX_O60361 137 15529 8.76 0 NA NA PE5 12 +NX_O60381 514 57645 5.79 0 Nucleus speckle;Nucleus NA PE1 7 +NX_O60383 454 51444 9.19 0 Secreted Premature ovarian failure 14 PE1 5 +NX_O60384 105 11997 8.91 0 NA NA PE5 19 +NX_O60391 1043 112992 9.37 3 Postsynaptic cell membrane;Cell membrane NA PE2 19 +NX_O60393 691 73906 5.79 0 Nucleus Premature ovarian failure 5 PE1 7 +NX_O60397 106 11841 9.57 0 Mitochondrion inner membrane NA PE5 4 +NX_O60403 315 34663 8.71 7 Cell membrane NA PE2 19 +NX_O60404 316 35721 9.22 7 Cell membrane NA PE2 19 +NX_O60412 319 35323 7.99 7 Cell membrane NA PE3 19 +NX_O60422 494 50037 9.9 0 Nucleoplasm;Nucleus NA PE3 19 +NX_O60423 1300 146752 8.18 10 Endoplasmic reticulum membrane;Acrosome membrane NA PE1 19 +NX_O60427 444 51964 8.98 4 Endoplasmic reticulum membrane;Mitochondrion NA PE1 11 +NX_O60431 355 39297 7.14 7 Cell membrane NA PE2 19 +NX_O60437 1756 204747 5.47 0 Cytosol;Nucleoplasm;Cell membrane;Desmosome;Nucleus;Mitochondrion;Cytoskeleton NA PE1 16 +NX_O60443 496 54555 5.03 0 Cytosol;Cell membrane Deafness, autosomal dominant, 5 PE1 7 +NX_O60447 810 92949 5.78 0 Cytoplasmic vesicle;Spindle;Nucleus;Centrosome;Golgi apparatus NA PE1 1 +NX_O60449 1722 198311 6.22 1 Golgi apparatus;Membrane NA PE1 2 +NX_O60462 931 104831 5.04 1 Cytoplasmic vesicle;Membrane;Cell membrane;Secreted NA PE1 2 +NX_O60469 2012 222260 7.78 1 Synapse;Secreted;Cytosol;Cell membrane;Axon;Nucleoplasm NA PE1 21 +NX_O60476 641 73004 7.17 1 Golgi apparatus membrane;Golgi apparatus NA PE1 1 +NX_O60477 761 88760 9.15 0 Cytoplasm;Cytoskeleton NA PE1 9 +NX_O60478 399 45599 8.95 7 Lysosome membrane NA PE1 1 +NX_O60479 287 31738 8.98 0 Nucleus Trichodentoosseous syndrome;Amelogenesis imperfecta 4 PE1 17 +NX_O60481 467 50569 8.89 0 Nucleoplasm;Cytoplasm;Nucleus VACTERL association X-linked with or without hydrocephalus;Congenital heart defects, multiple types, 1, X-linked;Heterotaxy, visceral, 1, X-linked PE1 X +NX_O60486 1568 175742 7.78 1 Mitochondrion;Membrane NA PE1 12 +NX_O60487 215 24484 6.53 1 Cell junction;Membrane NA PE1 11 +NX_O60488 711 79188 8.66 1 Endoplasmic reticulum membrane;Microsome membrane;Peroxisome membrane;Golgi apparatus;Mitochondrion outer membrane;Mitochondrion Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis;Mental retardation, X-linked 63 PE1 X +NX_O60493 162 18762 8.71 0 Cytoplasm;Phagosome;Early endosome NA PE1 6 +NX_O60494 3623 398736 5.14 0 Endosome;Lysosome membrane;Coated pit;Apical cell membrane;Cell membrane Recessive hereditary megaloblastic anemia 1 PE1 10 +NX_O60496 412 45379 5.78 0 NA NA PE1 8 +NX_O60499 249 28114 4.81 1 Golgi apparatus membrane;Golgi apparatus NA PE1 19 +NX_O60500 1241 134742 5.42 1 Cell membrane Nephrotic syndrome 1 PE1 19 +NX_O60502 916 102915 4.82 0 Cytosol;Cytoplasm;Nucleus NA PE1 10 +NX_O60503 1353 150701 7.07 12 Cytosol;Cell membrane NA PE1 16 +NX_O60504 671 75341 9.48 0 Nucleoplasm;Cytoskeleton;Focal adhesion;Nucleus;Cell junction NA PE1 8 +NX_O60506 623 69603 8.68 0 Cytosol;Cytoplasm;Microsome;Endoplasmic reticulum;Nucleoplasm;Nucleus NA PE1 6 +NX_O60507 370 42188 9.21 1 Golgi apparatus membrane;Golgi apparatus NA PE1 7 +NX_O60508 579 65521 6.62 0 Nucleus NA PE1 6 +NX_O60512 393 43928 9.34 1 Golgi stack membrane;Golgi apparatus NA PE1 1 +NX_O60513 344 40041 9.18 1 Golgi stack membrane;Golgi apparatus NA PE1 3 +NX_O60516 100 10873 4.37 0 NA NA PE1 5 +NX_O60518 1105 124714 4.88 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 9 +NX_O60519 120 13784 9.93 0 Cytosol;Mitochondrion;Nucleus;Nucleoplasm NA PE1 12 +NX_O60522 2096 236517 5.14 0 Cytoplasm NA PE1 6 +NX_O60524 1076 122954 5.97 0 Nucleoplasm;Cytosol;Nucleus NA PE1 14 +NX_O60542 156 16600 9.54 0 Secreted NA PE2 19 +NX_O60543 219 24687 9.34 0 Lipid droplet;Nucleus NA PE1 18 +NX_O60547 372 41950 6.87 0 NA NA PE1 6 +NX_O60548 495 48748 6.76 0 Nucleus NA PE1 1 +NX_O60551 498 56980 7.23 0 Cytosol;Cytoplasm;Golgi apparatus;Cell membrane;Membrane NA PE1 10 +NX_O60563 726 80685 8.9 0 Nucleoplasm;Nucleus NA PE1 12 +NX_O60565 184 20697 9.53 0 Secreted Polyposis syndrome, mixed hereditary 1 PE1 15 +NX_O60566 1050 119545 5.2 0 Cytosol;Cytoplasm;Kinetochore;Nucleus;Centrosome Mosaic variegated aneuploidy syndrome 1;Premature chromatid separation trait PE1 15 +NX_O60568 738 84785 5.69 0 Endoplasmic reticulum lumen;Endoplasmic reticulum membrane;Extracellular space;Rough endoplasmic reticulum;Secreted Lysyl hydroxylase 3 deficiency PE1 7 +NX_O60573 245 28362 8.97 0 Cytosol;Mitochondrion NA PE1 2 +NX_O60575 86 9454 7.57 0 Cytoplasmic vesicle;Nucleus;Golgi apparatus;Secreted NA PE2 9 +NX_O60583 730 81029 9.04 0 Cytosol;Nucleoplasm;Perinuclear region;Nucleus;Cell membrane NA PE1 2 +NX_O60602 858 97834 6.21 1 Cytosol;Nucleus;Golgi apparatus;Membrane Systemic lupus erythematosus 1 PE1 1 +NX_O60603 784 89838 6.17 1 Mitochondrion;Phagosome membrane;Nucleus;Membrane raft;Membrane NA PE1 4 +NX_O60609 400 44511 8.06 0 Cytosol;Cell membrane NA PE1 5 +NX_O60610 1272 141347 5.31 0 Cytoplasm;Cell membrane;Centrosome;Nucleus;Ruffle membrane;Cytoskeleton;Spindle Deafness, autosomal dominant, 1;Seizures, cortical blindness, and microcephaly syndrome PE1 5 +NX_O60613 165 18092 4.96 0 Endoplasmic reticulum lumen;Cytosol;Nucleolus;Endoplasmic reticulum NA PE1 1 +NX_O60635 241 26301 5.12 4 Cytoplasmic vesicle;Nucleoplasm;Lysosome membrane NA PE1 1 +NX_O60636 221 24148 7.98 4 Nucleoplasm;Membrane NA PE1 1 +NX_O60637 253 28018 5.52 4 Nucleoplasm;Golgi apparatus;Membrane NA PE1 15 +NX_O60641 907 92502 4.69 0 Cytosol;Coated pit;Centrosome;Cell membrane NA PE1 6 +NX_O60645 756 86845 5.8 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Midbody;Perinuclear region;Mitochondrion;Growth cone NA PE1 5 +NX_O60656 530 59941 8.08 1 Endoplasmic reticulum membrane;Microsome NA PE1 2 +NX_O60658 829 93304 5.75 0 Golgi apparatus NA PE1 15 +NX_O60662 606 68037 5.14 0 Endoplasmic reticulum membrane;Ruffle;Pseudopodium;Sarcoplasmic reticulum membrane;Cytosol;Cytoplasm;Cell membrane;Nucleus;Cytoskeleton;M line Nemaline myopathy 9 PE1 2 +NX_O60663 402 44917 6.22 0 Nucleus Nail-patella syndrome PE1 9 +NX_O60664 434 47075 5.3 0 Cytosol;Endosome membrane;Lipid droplet;Cytoplasm NA PE1 19 +NX_O60667 390 43146 9.78 1 Cytosol;Focal adhesion;Secreted;Nucleus;Membrane NA PE1 1 +NX_O60669 478 52200 9.37 12 Nucleoplasm;Cell membrane NA PE1 12 +NX_O60671 282 31827 4.73 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 5 +NX_O60673 3130 352776 8.72 0 Nucleoplasm;Nucleus NA PE1 6 +NX_O60674 1132 130674 6.82 0 Nucleoplasm;Cytoplasm;Cell membrane;Endomembrane system;Focal adhesion;Nucleus Leukemia, acute myelogenous;Budd-Chiari syndrome;Myelofibrosis;Thrombocythemia 3;Polycythemia vera PE1 9 +NX_O60675 156 17523 10.1 0 Nucleoplasm;Nucleus NA PE1 7 +NX_O60676 142 16275 9.05 0 Secreted NA PE1 20 +NX_O60678 531 59903 5.18 0 Cytoplasm NA PE1 11 +NX_O60682 206 22068 9.23 0 Nucleoplasm;Nucleus NA PE1 8 +NX_O60683 326 37069 10.03 0 Nucleoplasm;Peroxisome membrane Peroxisome biogenesis disorder complementation group 7;Peroxisome biogenesis disorder 6A;Peroxisome biogenesis disorder 6B PE1 1 +NX_O60684 536 60030 4.89 0 Nucleoplasm;Cytosol NA PE1 1 +NX_O60687 465 52972 7.05 0 Cytoplasm;Cytoskeleton;Cell surface;Synapse;Secreted Rolandic epilepsy with speech dyspraxia and mental retardation X-linked PE1 X +NX_O60688 119 13575 8.21 0 Nucleus NA PE2 22 +NX_O60701 494 55024 6.73 0 Nucleoplasm NA PE1 4 +NX_O60704 377 41912 9.22 1 Golgi apparatus membrane;Endoplasmic reticulum NA PE1 22 +NX_O60706 1549 174223 7.05 15 Cytosol;Nucleoplasm;Membrane Hypertrichotic osteochondrodysplasia;Atrial fibrillation, familial, 12;Cardiomyopathy, dilated 1O PE1 12 +NX_O60711 386 43332 5.62 0 Nucleus speckle;Cytosol;Cytoplasm;Focal adhesion;Cell membrane;Perinuclear region;Nucleus;Podosome NA PE1 11 +NX_O60716 968 108170 5.86 0 Cytoplasm;Nucleus;Cell membrane Blepharocheilodontic syndrome 2 PE1 11 +NX_O60721 1099 121374 4.9 11 Cytoskeleton;Membrane Night blindness, congenital stationary, 1D PE1 15 +NX_O60725 284 31938 8.13 8 Endoplasmic reticulum membrane NA PE1 1 +NX_O60729 498 56802 9.19 0 Nucleoplasm;Nucleolus NA PE1 9 +NX_O60732 1142 123643 4.23 0 Cytosol;Nucleoplasm NA PE1 X +NX_O60733 806 89903 6.86 0 Cytosol;Cytoplasm;Microtubule organizing center;Membrane Parkinson disease 14;Neurodegeneration with brain iron accumulation 2A;Neurodegeneration with brain iron accumulation 2B PE1 22 +NX_O60739 113 12824 6.82 0 NA NA PE1 3 +NX_O60741 890 98796 8.63 6 Cell membrane Epileptic encephalopathy, early infantile, 24 PE1 5 +NX_O60749 519 58471 5.04 0 Lamellipodium;Endosome;Early endosome membrane;Lysosome NA PE1 5 +NX_O60755 368 39573 10.23 7 Cell membrane NA PE1 22 +NX_O60756 84 9784 10.67 0 NA NA PE5 9 +NX_O60759 359 40010 6.55 0 Cytosol;Nucleoplasm;Early endosome;Cytoplasm NA PE1 2 +NX_O60760 199 23344 5.54 0 Cytoplasm NA PE1 4 +NX_O60762 260 29634 9.57 0 Endoplasmic reticulum Congenital disorder of glycosylation 1E PE1 20 +NX_O60763 962 107895 4.85 0 Cytosol;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA PE1 4 +NX_O60765 605 69237 9.65 0 Cytosol;Nucleolus;Nucleus NA PE1 5 +NX_O60774 539 61291 5.99 1 Endoplasmic reticulum membrane;Microsome membrane NA PE5 1 +NX_O60779 497 55400 6.35 12 Cytosol;Cell membrane Thiamine-responsive megaloblastic anemia syndrome PE1 1 +NX_O60783 128 15139 11.42 0 Mitochondrion;Nucleus membrane NA PE1 1 +NX_O60784 492 53818 4.59 0 Cytosol;Cytoplasm;Membrane;Cell membrane;Microtubule organizing center NA PE1 22 +NX_O60806 448 48238 6.66 0 Nucleus speckle;Nucleus ACTH deficiency, isolated PE1 1 +NX_O60809 474 55211 8.71 0 NA NA PE2 1 +NX_O60810 478 55439 8.69 0 NA NA PE2 1 +NX_O60811 474 54872 8.12 0 NA NA PE2 1 +NX_O60812 293 32142 4.93 0 Nucleus NA PE1 1 +NX_O60813 478 55344 8.83 0 NA NA PE2 1 +NX_O60814 126 13890 10.31 0 Nucleus;Chromosome NA PE1 6 +NX_O60825 505 58477 8.61 0 Nucleus NA PE1 1 +NX_O60826 627 70756 6.3 0 Cytosol;Nucleoplasm;Endosome Ritscher-Schinzel syndrome 2 PE1 X +NX_O60828 265 30472 5.92 0 Nucleus speckle;Nucleus;Cytoplasmic granule Renpenning syndrome 1 PE1 X +NX_O60829 102 11153 4.71 0 Cytoplasmic vesicle;Golgi apparatus NA PE1 X +NX_O60830 172 18273 9.21 3 Mitochondrion;Cytoskeleton;Mitochondrion inner membrane NA PE1 X +NX_O60831 178 19258 9.41 4 Endosome membrane;Cytoplasmic vesicle;Endoplasmic reticulum NA PE1 X +NX_O60832 514 57674 9.46 0 Cytoplasm;Nucleolus;Nucleus;Cajal body Dyskeratosis congenita, X-linked;Hoyeraal-Hreidarsson syndrome PE1 X +NX_O60840 1977 220678 5.76 24 Membrane Aaland island eye disease;Cone-rod dystrophy, X-linked 3;Night blindness, congenital stationary, 2A PE1 X +NX_O60841 1220 138827 5.39 0 Cytosol;Cytoplasm;Cell membrane NA PE1 2 +NX_O60844 167 18147 9.43 0 Cytoplasmic vesicle lumen;Extracellular matrix;Golgi apparatus lumen NA PE1 16 +NX_O60858 407 46988 5.75 1 Endoplasmic reticulum membrane NA PE1 13 +NX_O60861 476 54371 6.91 0 Cytoplasm;Focal adhesion;Cytoskeleton;Cell membrane NA PE1 17 +NX_O60869 148 16369 9.95 0 Cytosol;Cytoplasm;Nucleus NA PE1 9 +NX_O60870 393 45374 9.07 0 Cytoplasm;Nucleus NA PE1 10 +NX_O60879 1101 125569 6.2 0 Cytoplasmic vesicle;Cytosol;Nucleolus;Endoplasmic reticulum;Early endosome Premature ovarian failure 2A PE1 X +NX_O60880 128 14187 8.74 0 Cytoplasm Lymphoproliferative syndrome, X-linked, 1 PE1 X +NX_O60882 483 54387 8.92 0 Extracellular matrix Amelogenesis imperfecta, hypomaturation type, 2A2 PE1 11 +NX_O60883 481 52771 7.37 7 Cilium membrane;Cell membrane NA PE1 1 +NX_O60884 412 45746 6.06 0 Cytosol;Cytoskeleton;Nucleolus;Membrane NA PE1 16 +NX_O60885 1362 152219 9.23 0 Nucleoplasm;Nucleus;Chromosome NA PE1 19 +NX_O60888 179 19116 5.42 0 Focal adhesion;Cell membrane NA PE1 6 +NX_O60890 802 91641 8.08 0 Synapse;Cytoplasm;Cell membrane;Axon;Dendrite;Nucleus;Dendritic spine Mental retardation, X-linked, syndromic, OPHN1-related PE1 X +NX_O60894 148 16988 8.55 1 Nucleoplasm;Nucleus membrane;Membrane NA PE1 2 +NX_O60895 175 19608 5.49 1 Cytoplasmic vesicle;Membrane NA PE1 17 +NX_O60896 148 16518 5.32 1 Cell membrane;Membrane NA PE1 7 +NX_O60902 331 34953 8.99 0 Nucleus NA PE1 3 +NX_O60906 423 47646 6.49 2 Cytoplasmic vesicle;Cell junction;Cell membrane;Membrane NA PE1 6 +NX_O60907 577 62496 6.08 0 Nucleolus;Nucleus NA PE1 X +NX_O60909 372 41972 9.47 1 Cytoplasmic vesicle;Golgi stack membrane;Golgi apparatus NA PE1 1 +NX_O60911 334 37329 8.98 0 Cytosol;Nucleolus;Nucleus;Cell membrane;Lysosome NA PE1 9 +NX_O60921 280 31691 6.37 0 Cytosol;Nucleus NA PE1 7 +NX_O60925 122 14210 6.32 0 Cytosol;Cytoplasm;Nucleolus;Cell membrane NA PE1 5 +NX_O60927 126 13952 6.52 0 Cytoplasmic vesicle NA PE1 6 +NX_O60928 360 40530 5.84 2 Membrane Snowflake vitreoretinal degeneration;Leber congenital amaurosis 16 PE1 2 +NX_O60930 286 32064 9.28 0 Cytoplasm Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 PE1 2 +NX_O60931 367 41738 9.12 7 Cytoplasmic vesicle;Cytoskeleton;Lysosome membrane;Melanosome;Cell membrane Cystinosis, adult, non-nephropathic type;Cystinosis, late-onset juvenile or adolescent nephropathic type;Cystinosis, nephropathic type PE1 17 +NX_O60934 754 84959 6.5 0 PML body;Golgi apparatus;Nucleoplasm;Telomere;Nucleus;Chromosome Nijmegen breakage syndrome;Breast cancer;Aplastic anemia PE1 8 +NX_O60936 208 22629 4.11 0 Nucleolus;Cytosol;Cytoplasm;Sarcoplasmic reticulum;Nucleus;Membrane;Mitochondrion Myoclonus, familial cortical PE1 16 +NX_O60938 352 40509 7.11 0 Extracellular matrix Cornea plana 2, autosomal recessive PE1 12 +NX_O60939 215 24326 5.98 1 Membrane Atrial fibrillation, familial, 14 PE1 11 +NX_O60941 627 71356 8.11 0 Mitochondrion;Cytoplasm NA PE1 2 +NX_O60942 597 68557 8.43 0 Nucleoplasm;Nucleus NA PE1 6 +NX_O71037 699 79252 9.2 1 Virion;Cell membrane NA PE1 19 +NX_O75015 233 26216 6.22 0 Cell membrane;Secreted NA PE1 1 +NX_O75019 489 53275 7.97 1 Membrane NA PE1 19 +NX_O75022 631 69386 6.45 1 Cell membrane NA PE1 19 +NX_O75023 590 64126 6.92 1 Membrane NA PE1 19 +NX_O75027 752 82641 9.37 6 Mitochondrion;Mitochondrion inner membrane Anemia, sideroblastic, spinocerebellar ataxia PE1 X +NX_O75030 526 58795 5.93 0 Nucleus Melanoma, cutaneous malignant 8;Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;Waardenburg syndrome 2, with ocular albinism, autosomal recessive;Tietz albinism-deafness syndrome;Waardenburg syndrome 2A PE1 3 +NX_O75031 334 37645 5.43 0 Cytosol;Cytoplasm;Nucleus NA PE1 21 +NX_O75037 1637 182662 6.7 0 Axon;Dendrite;Cytoplasmic vesicle;Growth cone;Cytoskeleton NA PE1 1 +NX_O75038 1416 154668 8.04 0 Cytoplasm;Cell membrane NA PE1 1 +NX_O75044 1071 120871 6.25 0 Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus;Phagosome;Dendritic spine;Postsynaptic density;Lamellipodium;Postsynaptic cell membrane NA PE1 1 +NX_O75051 1894 211104 6.05 1 Cell membrane NA PE1 1 +NX_O75052 506 56150 5.89 0 Cytoplasmic vesicle;Nucleus NA PE1 1 +NX_O75054 1194 135196 5.75 1 Nucleoplasm;Cytosol;Membrane Lacrimal duct defect PE1 1 +NX_O75056 442 45497 4.61 1 Nucleoplasm;Mitochondrion;Membrane NA PE1 1 +NX_O75061 913 99997 6.82 0 Nucleoplasm;Cytosol;Cell membrane Parkinson disease 19B, early-onset;Parkinson disease 19A, juvenile-onset PE1 1 +NX_O75063 409 46432 6.4 1 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus NA PE1 1 +NX_O75064 1496 163847 6.85 0 Nucleus;Golgi apparatus NA PE1 1 +NX_O75069 709 77449 6.34 2 Endoplasmic reticulum membrane NA PE1 1 +NX_O75071 495 55031 5.98 0 Cytosol;Nucleolus;Golgi apparatus NA PE1 1 +NX_O75072 461 53724 8.63 1 Cytoplasm;Nucleus;Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4;Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4;Cardiomyopathy, dilated 1X;Muscular dystrophy-dystroglycanopathy limb-girdle C4 PE1 9 +NX_O75074 770 82884 5.83 1 Coated pit;Membrane NA PE1 19 +NX_O75077 832 91926 7.85 1 Cell membrane;Secreted NA PE1 2 +NX_O75078 769 83418 6.91 1 Membrane NA PE1 17 +NX_O75081 653 71192 8.5 0 Nucleoplasm;Nucleolus;Golgi apparatus membrane NA PE1 16 +NX_O75083 606 66194 6.17 0 Cytoplasm;Cytoskeleton;Podosome;Cell junction;Cell membrane NA PE1 4 +NX_O75084 574 63620 8.12 7 Nucleoplasm;Endosome membrane;Cell membrane NA PE1 2 +NX_O75093 1534 167926 6.14 0 Cell membrane;Secreted NA PE1 10 +NX_O75094 1523 167713 7.99 0 Cell junction;Secreted NA PE1 5 +NX_O75095 1541 161185 5.94 0 Cytoplasm;Cytoskeleton;Secreted NA PE1 1 +NX_O75096 1905 212045 5.06 1 Mitochondrion;Nucleolus;Nucleus;Cell membrane Cenani-Lenz syndactyly syndrome;Myasthenic syndrome, congenital, 17;Sclerosteosis 2 PE1 11 +NX_O75106 756 83673 6.54 0 Cytoplasm;Cell membrane NA PE1 17 +NX_O75110 1047 118583 8.01 10 Recycling endosome;Early endosome membrane;trans-Golgi network membrane NA PE1 20 +NX_O75112 727 77135 8.47 0 Pseudopodium;Cytosol;Focal adhesion;Nucleoplasm;Perinuclear region;Cytoskeleton;Z line Left ventricular non-compaction 3;Myopathy, myofibrillar, 4;Cardiomyopathy, dilated 1C, with or without left ventricular non-compaction PE1 10 +NX_O75113 896 100379 5.24 0 PML body;Nucleolus NA PE1 16 +NX_O75116 1388 160900 5.75 0 Cytosol;Cytoplasm;Nucleus;Centrosome;Cell membrane NA PE1 2 +NX_O75121 409 45380 5.13 1 Cytoplasm;Nucleus;Cell membrane NA PE1 4 +NX_O75122 1294 141064 8.62 0 Kinetochore;Cytoskeleton;Ruffle membrane;Golgi apparatus;Cytosol;Cell membrane;trans-Golgi network;Spindle;Centrosome NA PE1 3 +NX_O75123 536 61392 8.52 0 Nucleus NA PE1 8 +NX_O75127 700 78856 8.81 0 Mitochondrion;Mitochondrion matrix NA PE1 7 +NX_O75128 1261 135617 7.66 0 Cytoplasm;Cytoskeleton;Ruffle;Cell junction;Cell membrane NA PE1 7 +NX_O75129 1339 148243 5.66 2 Late endosome;Perikaryon;Nucleoplasm;Early endosome;Cell cortex;Cytoplasmic vesicle;Cytosol;Membrane;Clathrin-coated vesicle NA PE1 9 +NX_O75131 537 60131 5.6 0 Nucleolus;Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Nucleus;Mitochondrion;Cell junction NA PE1 8 +NX_O75132 1171 130322 6.38 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 22 +NX_O75140 1603 181264 6.27 0 Cytosol;Perinuclear region;Lysosome membrane;Golgi apparatus Epilepsy, familial focal, with variable foci 1 PE1 22 +NX_O75143 517 56572 4.98 0 Cytosol;Nucleoplasm;Preautophagosomal structure;Cell membrane NA PE1 11 +NX_O75144 302 33349 5.15 1 Cytosol;Cell membrane NA PE1 21 +NX_O75145 1194 133496 5.53 0 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Acrosome NA PE1 19 +NX_O75146 1068 119388 6.22 0 Cytosol;Cell membrane;Endomembrane system;Cytoplasmic vesicle;Perinuclear region;Clathrin-coated vesicle membrane NA PE1 12 +NX_O75147 1896 206947 5.42 0 Cytoplasm;Perinuclear region;Centrosome;Golgi apparatus 3M syndrome 2 PE1 2 +NX_O75150 1001 113678 5.97 0 Nucleoplasm;Nucleus NA PE1 16 +NX_O75151 1096 120775 9.25 0 Kinetochore;Nucleolus NA PE1 9 +NX_O75152 810 89131 8.62 0 Nucleus speckle NA PE1 1 +NX_O75153 1309 146670 5.75 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytoplasmic granule NA PE1 17 +NX_O75154 756 82440 4.44 0 Cleavage furrow;Microtubule organizing center;Cytoplasmic vesicle;Centrosome;Cytoskeleton;Recycling endosome membrane;Midbody NA PE1 16 +NX_O75155 1236 135256 5.44 0 Cytosol;Nucleus NA PE1 3 +NX_O75157 780 79228 4.9 0 Cytosol NA PE1 3 +NX_O75159 536 61246 8.87 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 2 +NX_O75161 1426 157598 8.4 0 Nucleus;Centrosome;Tight junction;Cilium basal body Nephronophthisis 4;Senior-Loken syndrome 4 PE1 1 +NX_O75164 1064 120662 5.61 0 Nucleolus;Nucleus NA PE1 1 +NX_O75165 2243 254415 6.31 0 Cytosol;Cytoplasmic vesicle;Early endosome membrane;Endosome membrane;Early endosome Parkinson disease PE1 3 +NX_O75167 634 69700 8.14 0 Membrane NA PE1 6 +NX_O75170 966 104942 4.74 0 Cytosol;Cytoplasm;Cytoplasmic vesicle NA PE1 22 +NX_O75173 837 90197 8.18 0 Nucleus speckle;Extracellular matrix NA PE1 1 +NX_O75175 753 81872 5.82 0 Cytosol;Cytoplasm;P-body;Nucleus NA PE1 19 +NX_O75177 396 42990 5.96 0 Cytosol;Nucleoplasm;Kinetochore;Nucleus NA PE1 20 +NX_O75179 2603 274258 6.07 0 Cytoplasm;Nucleus;Nucleus membrane NA PE1 4 +NX_O75182 1162 133066 6.48 0 Nucleoplasm;Nucleus;Cell membrane NA PE1 19 +NX_O75185 946 103169 5.53 10 Focal adhesion;Cell membrane;Membrane NA PE1 16 +NX_O75190 326 36087 9.17 0 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus;Z line Limb-girdle muscular dystrophy 1E PE1 7 +NX_O75191 536 58382 5.55 0 Nucleus speckle NA PE1 3 +NX_O75192 247 28353 9.68 2 Peroxisome membrane NA PE1 15 +NX_O75197 1615 179145 5.11 1 Endoplasmic reticulum;Membrane Osteoporosis-pseudoglioma syndrome;Polycystic liver disease 4 with or without kidney cysts;Osteopetrosis, autosomal dominant 1;Vitreoretinopathy, exudative 1;Van Buchem disease 2;Vitreoretinopathy, exudative 4;High bone mass trait;Endosteal hyperostosis, Worth type;Osteoporosis PE1 11 +NX_O75200 414 47714 10.35 0 Secreted NA PE2 16 +NX_O75204 238 25842 6.23 3 Cytoplasm;Cell membrane Pheochromocytoma PE1 2 +NX_O75208 318 35509 5.61 0 Mitochondrion;Cytosol Coenzyme Q10 deficiency, primary, 5 PE1 16 +NX_O75223 188 21008 5.07 0 Cytoplasm;Cell membrane NA PE1 7 +NX_O75251 213 23564 10.02 0 Mitochondrion Mitochondrial complex I deficiency;Leigh syndrome PE1 19 +NX_O75264 130 14964 5.25 1 Cytosol;Nucleoplasm;Membrane NA PE1 19 +NX_O75290 641 74531 8.96 0 Nucleus NA PE1 19 +NX_O75293 160 17818 4.33 0 Cytosol;Nucleoplasm NA PE1 19 +NX_O75298 545 59264 5.19 2 Endoplasmic reticulum membrane;Nucleus speckle Spastic paraplegia 12, autosomal dominant PE1 19 +NX_O75306 463 52546 7.21 0 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane Mitochondrial complex I deficiency PE1 1 +NX_O75309 829 89923 4.82 1 Cell membrane NA PE1 16 +NX_O75310 529 61038 9.06 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 4 +NX_O75311 464 53800 8.6 4 Dendrite;Synapse;Postsynaptic cell membrane;Cell membrane;Perikaryon NA PE1 4 +NX_O75312 459 50925 4.66 0 Cytoplasmic vesicle;Nucleolus;Cajal body;Cytoplasm;Axon;Perinuclear region;Nucleus;Growth cone;Gem NA PE1 11 +NX_O75317 370 42858 6.16 0 NA NA PE1 13 +NX_O75319 377 43710 9.38 0 Nucleus speckle;Cytoskeleton;Nucleolus;Nucleus NA PE1 2 +NX_O75323 286 33743 9.42 0 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA PE1 7 +NX_O75324 88 9497 5.19 1 Cytosol;Mitochondrion outer membrane NA PE1 16 +NX_O75325 713 78859 7.06 1 Endoplasmic reticulum;Membrane NA PE1 1 +NX_O75326 666 74824 7.57 0 Cytoplasmic vesicle;Cell membrane NA PE1 15 +NX_O75330 724 84100 5.68 0 Cytosol;Cell surface;Cytoskeleton;Centrosome;Cytoplasm NA PE1 5 +NX_O75333 385 42341 9.33 0 Nucleus NA PE2 11 +NX_O75334 1257 143291 5.8 0 Cytoplasm;Cell surface NA PE1 12 +NX_O75335 1185 134404 6.28 0 Cytoplasm;Cell surface NA PE1 1 +NX_O75339 1184 132565 8.76 0 Extracellular matrix Intervertebral disc disease PE1 15 +NX_O75340 191 21868 5.16 0 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Cytosol;Cytoplasm;Endosome;Nucleus NA PE1 5 +NX_O75342 701 80356 7.57 0 Cytosol;Cytoplasm Ichthyosis, congenital, autosomal recessive 2 PE1 17 +NX_O75343 617 70368 8.84 0 Cytoplasm NA PE5 13 +NX_O75344 327 37214 6.48 0 Cytosol;Nucleus;Chromosome NA PE1 7 +NX_O75346 499 57602 9.32 0 Nucleus NA PE1 19 +NX_O75347 108 12855 5.25 0 Cytoplasm;Cytoskeleton;Nucleolus NA PE1 5 +NX_O75348 118 13758 8.93 0 Nucleolus;Nucleus NA PE1 9 +NX_O75351 444 49302 6.75 0 Cytoplasmic vesicle;Cytoskeleton;Prevacuolar compartment membrane;Late endosome membrane NA PE1 18 +NX_O75352 247 26638 9.13 7 Mitochondrion;Endoplasmic reticulum;Membrane Congenital disorder of glycosylation 1F PE1 17 +NX_O75354 484 53246 9.32 1 Golgi apparatus membrane;Golgi apparatus;Secreted NA PE1 20 +NX_O75355 529 59105 5.98 2 Cytosol;Membrane NA PE1 3 +NX_O75356 428 47517 5.92 0 Cytosol;Endoplasmic reticulum;Secreted NA PE1 14 +NX_O75360 226 24984 10.36 0 Nucleus Pituitary hormone deficiency, combined, 2 PE1 5 +NX_O75362 1048 115272 8.78 0 Nucleus speckle;Nucleus NA PE1 20 +NX_O75363 584 61709 4.99 0 Cytoplasmic vesicle;Cytoplasm NA PE1 20 +NX_O75364 302 31832 9.28 0 Nucleus Cataract 11, multiple types;Anterior segment dysgenesis 1 PE1 10 +NX_O75365 173 19535 9.35 0 Cell membrane;Early endosome NA PE1 8 +NX_O75366 819 92027 5.47 0 Axon;Cytoskeleton;Cell projection NA PE1 12 +NX_O75367 372 39617 9.8 0 Nucleus;Chromosome NA PE1 5 +NX_O75368 114 12774 5.22 0 Cytoplasmic vesicle NA PE1 X +NX_O75369 2602 278164 5.47 0 Stress fiber;Golgi apparatus;Cytosol;Cell cortex;Cell membrane;Cytoskeleton;Z line Boomerang dysplasia;Larsen syndrome;Atelosteogenesis 3;Spondylocarpotarsal synostosis syndrome;Atelosteogenesis 1 PE1 3 +NX_O75373 536 61931 9.41 0 Nucleus NA PE1 19 +NX_O75376 2440 270210 6.66 0 Nucleus NA PE1 17 +NX_O75379 141 16397 6.75 1 trans-Golgi network membrane;Golgi apparatus NA PE1 1 +NX_O75380 124 13712 8.58 0 Mitochondrion inner membrane Mitochondrial complex I deficiency PE1 5 +NX_O75381 377 41237 4.89 0 Peroxisome membrane;Nucleolus;Peroxisome Peroxisome biogenesis disorder 13A;Peroxisome biogenesis disorder complementation group K PE1 1 +NX_O75382 744 80830 8.03 0 Mitochondrion;Cytoplasm;Dendrite;trans-Golgi network;Early endosome NA PE1 11 +NX_O75385 1050 112631 9.03 0 Cytosol;Preautophagosomal structure NA PE1 12 +NX_O75386 442 49642 7.63 0 Nucleolus;Secreted;Cytoplasm;Cell membrane;Nucleus;Cilium NA PE1 12 +NX_O75387 559 61477 7.85 12 Cytoplasmic vesicle;Cell membrane;Golgi apparatus;Membrane NA PE1 11 +NX_O75388 356 40087 9.35 7 Cell membrane NA PE2 19 +NX_O75390 466 51712 8.45 0 Mitochondrion;Mitochondrion matrix NA PE1 12 +NX_O75391 227 26034 7.69 0 Nucleus NA PE1 17 +NX_O75394 65 7619 10.81 0 Mitochondrion NA PE1 2 +NX_O75396 215 24593 6.43 1 Endoplasmic reticulum membrane;cis-Golgi network membrane;trans-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Melanosome NA PE1 1 +NX_O75398 565 59327 5.21 0 Cytoplasm;Nucleolus;Nucleus;Secreted Dyskinesia, seizures, and intellectual developmental disorder;Mental retardation, autosomal dominant 24 PE1 11 +NX_O75400 957 108805 7.18 0 Nucleus matrix;Nucleus;Nucleus speckle NA PE1 2 +NX_O75409 117 13442 4.93 0 NA NA PE1 X +NX_O75410 805 87794 4.82 0 Cytoplasm;Nucleus;Centrosome;Midbody;Membrane NA PE1 8 +NX_O75414 186 21142 8.51 0 Cytoplasmic vesicle NA PE1 3 +NX_O75417 2590 289619 7.07 0 Cytosol;Nucleus;Golgi apparatus;Chromosome Breast cancer PE1 3 +NX_O75419 566 65569 5.31 0 Cytosol;Cytoplasm;Nucleus;Centrosome;Nucleoplasm Meier-Gorlin syndrome 7 PE1 22 +NX_O75420 1035 114601 5.29 0 Cytoplasmic vesicle;Cytoskeleton NA PE1 7 +NX_O75425 235 25519 9.29 2 Cytosol;Nucleoplasm;Membrane NA PE1 7 +NX_O75426 580 64889 9.01 0 NA NA PE1 7 +NX_O75427 683 73450 8.55 0 Cytosol;Nucleoplasm;Focal adhesion NA PE1 7 +NX_O75431 263 29763 5.9 0 Mitochondrion;Nucleolus;Mitochondrion outer membrane NA PE1 2 +NX_O75436 327 38170 6.13 0 Endosome;Golgi apparatus;Lysosome;Cytoplasm;Cell membrane;Endosome membrane;Early endosome NA PE1 10 +NX_O75437 659 77160 9.4 0 Nucleus NA PE1 19 +NX_O75438 58 6961 9.03 1 Mitochondrion;Cytoplasm;Mitochondrion inner membrane;Nucleus speckle NA PE1 14 +NX_O75439 489 54366 6.38 0 Mitochondrion matrix;Mitochondrion Multiple mitochondrial dysfunctions syndrome 6 PE1 7 +NX_O75443 2155 239527 5.23 0 Cell membrane;Extracellular matrix Deafness, autosomal recessive, 21;Deafness, autosomal dominant, 12 PE1 11 +NX_O75444 373 38492 6.44 0 Nucleus Ayme-Gripp syndrome;Cataract 21, multiple types PE1 16 +NX_O75445 5202 575600 6.4 1 Secreted;Stereocilium membrane Usher syndrome 2A;Retinitis pigmentosa 39 PE1 1 +NX_O75446 220 23306 9.28 0 Nucleoplasm;Nucleus NA PE1 4 +NX_O75448 989 110305 6.51 0 Nucleus NA PE1 17 +NX_O75449 491 55965 6.47 0 Cytoplasm;Cell membrane;Centrosome;Midbody;Nucleus;Spindle;Microtubule organizing center;Spindle pole NA PE1 6 +NX_O75452 317 35673 8.83 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 12 +NX_O75459 146 16150 4.15 0 Mitochondrion;Nucleolus;Nucleus NA PE1 X +NX_O75460 977 109735 5.98 1 Endoplasmic reticulum membrane NA PE1 17 +NX_O75461 281 31844 5.35 0 Nucleoplasm;Nucleus NA PE1 2 +NX_O75462 422 46302 9.3 0 Secreted Crisponi/Cold-induced sweating syndrome 1 PE1 19 +NX_O75467 553 61104 9.69 0 Cytosol;Nucleus;Nucleus membrane NA PE1 19 +NX_O75469 434 49762 8.7 0 Nucleoplasm;Nucleus NA PE1 3 +NX_O75473 907 99998 6.12 7 trans-Golgi network membrane;Cell membrane NA PE1 12 +NX_O75474 233 24051 5.4 0 Mitochondrion;Nucleus NA PE1 10 +NX_O75475 530 60103 9.15 0 Nucleoplasm;Nucleus NA PE1 9 +NX_O75477 346 38926 7.67 1 Endoplasmic reticulum membrane;Endoplasmic reticulum Spastic paraplegia 62, autosomal recessive PE1 10 +NX_O75478 443 51506 6.45 0 Nucleus speckle;Nucleus;Chromosome NA PE1 17 +NX_O75486 317 35793 6.41 0 Nucleoplasm;Nucleus NA PE1 6 +NX_O75487 556 62412 6.26 0 Cytoplasmic vesicle;Extracellular space;Cell membrane NA PE1 X +NX_O75489 264 30242 6.98 0 Mitochondrion;Mitochondrion inner membrane;Nucleus NA PE1 11 +NX_O75493 328 36238 9.78 0 Cytoplasmic vesicle;Cytoskeleton;Secreted NA PE1 19 +NX_O75494 262 31301 11.26 0 Nucleoplasm;Nucleus speckle;Cytoplasm NA PE1 1 +NX_O75496 209 23565 4.93 0 Nucleoplasm;Cytoplasm;Nucleus Meier-Gorlin syndrome 6 PE1 6 +NX_O75503 358 41497 7.04 1 Lysosome;Membrane Ceroid lipofuscinosis, neuronal, 5 PE1 13 +NX_O75506 76 8544 4.17 0 Nucleus NA PE1 16 +NX_O75508 207 21993 8.22 4 Tight junction;Cell membrane NA PE1 3 +NX_O75509 655 71845 8.09 1 Cell membrane NA PE1 6 +NX_O75521 394 43585 9.13 0 Mitochondrion;Peroxisome matrix;Peroxisome NA PE1 6 +NX_O75525 346 38800 7.04 0 Nucleoplasm;Nucleus NA PE1 8 +NX_O75526 392 42814 10.33 0 Nucleus NA PE1 11 +NX_O75528 432 48902 5.9 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 3 +NX_O75529 589 66155 5.55 0 Cytosol;Nucleus speckle;Nucleus NA PE1 1 +NX_O75530 441 50198 6.57 0 Nucleoplasm;Nucleus;Chromosome Cohen-Gibson syndrome PE1 11 +NX_O75531 89 10059 5.81 0 Cytosol;Cytoplasm;Nucleus envelope;Nucleoplasm;Nucleus;Chromosome Nestor-Guillermo progeria syndrome PE1 11 +NX_O75533 1304 145830 6.65 0 Nucleus speckle;Nucleus NA PE1 2 +NX_O75534 798 88885 5.88 0 Cytosol;Cytoplasm NA PE1 1 +NX_O75541 412 46794 6.14 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 16 +NX_O75553 588 63775 4.88 0 Cytoplasmic vesicle Spinocerebellar ataxia 37 PE1 1 +NX_O75554 376 42507 5.45 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cell membrane;Nucleus speckle NA PE1 13 +NX_O75556 95 10884 5.48 0 Secreted NA PE1 11 +NX_O75558 287 33196 6.11 0 Mitochondrion;trans-Golgi network membrane;Nucleus;Membrane Familial hemophagocytic lymphohistiocytosis 4 PE1 6 +NX_O75563 359 41217 4.54 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 7 +NX_O75564 556 61815 8.18 0 Nucleolus;Nucleus NA PE1 8 +NX_O75569 313 34404 8.68 0 Cytosol;Cytoplasm;Perinuclear region;Nucleoplasm Dystonia 16 PE1 2 +NX_O75570 445 52306 8.75 0 Mitochondrion NA PE1 13 +NX_O75575 148 16871 5.29 0 Nucleus;Cell membrane NA PE1 7 +NX_O75578 1167 127602 6.21 1 Membrane NA PE1 1 +NX_O75581 1613 180429 5.12 1 Cell membrane;Membrane raft;Endoplasmic reticulum Tooth agenesis, selective, 7;Coronary artery disease, autosomal dominant, 2 PE1 12 +NX_O75582 802 89865 6.63 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 14 +NX_O75586 246 28425 8.71 0 Nucleoplasm;Nucleus NA PE1 14 +NX_O75592 4678 513636 6.61 0 Cytoplasmic vesicle;Axon;Cytoskeleton;Nucleus NA PE1 13 +NX_O75593 365 39257 9.6 0 Nucleus NA PE1 8 +NX_O75594 196 21731 8.92 0 Cytoplasmic granule;Secreted NA PE1 19 +NX_O75596 197 22233 9.07 0 Secreted NA PE1 16 +NX_O75600 419 45285 8.3 0 Mitochondrion;Nucleoplasm;Nucleus NA PE1 22 +NX_O75602 509 55476 6.37 0 Cytoplasm;Cytoskeleton;Flagellum NA PE1 10 +NX_O75603 506 56610 7.14 0 Nucleus Hypoparathyroidism, familial isolated;Hyperparathyroidism 4 PE1 6 +NX_O75604 605 68072 9.15 0 Cytosol;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Membrane NA PE1 11 +NX_O75607 178 19344 4.55 0 Cytosol;Cytoskeleton;Nucleolus;Nucleus NA PE1 10 +NX_O75608 230 24670 6.29 0 Cytoplasm NA PE1 8 +NX_O75610 366 40880 8.6 0 Secreted NA PE1 1 +NX_O75616 437 48350 9.05 0 Mitochondrion matrix;Cytosol;Mitochondrion;Mitochondrion inner membrane Perrault syndrome 6 PE1 17 +NX_O75618 318 36794 9.07 0 Nucleoplasm;Cytoplasm;Nucleolus NA PE1 1 +NX_O75626 825 91771 8.76 0 Cytoplasm;Nucleolus;Nucleus NA PE1 6 +NX_O75628 298 32947 9.02 0 NA NA PE1 20 +NX_O75629 220 24075 7.06 0 Cytoplasmic vesicle;Cytoskeleton;Secreted NA PE1 1 +NX_O75631 287 30670 4.69 1 Endoplasmic reticulum membrane;Nucleus;Nucleus membrane NA PE1 22 +NX_O75635 380 42905 6.34 0 Mitochondrion;Cytoplasm;Endoplasmic reticulum Keratoderma, palmoplantar, Nagashima type PE1 18 +NX_O75636 299 32903 6.2 0 Secreted Ficolin 3 deficiency PE1 1 +NX_O75638 210 21090 10.02 0 Centrosome NA PE1 X +NX_O75643 2136 244508 5.73 0 Nucleoplasm;Nucleus Retinitis pigmentosa 33 PE1 2 +NX_O75648 421 47745 8.24 0 Mitochondrion;Nucleoplasm Deafness, aminoglycoside-induced;Liver failure, infantile, transient PE1 22 +NX_O75663 272 31444 5.6 0 Cytosol;Cytoplasm;Cytoplasmic vesicle NA PE1 1 +NX_O75665 1012 116671 5.82 0 Centriole;Cytoskeleton;Nucleus;Centriolar satellite;Cilium basal body Retinitis pigmentosa 23;Joubert syndrome 10;Orofaciodigital syndrome 1;Simpson-Golabi-Behmel syndrome 2 PE1 X +NX_O75674 476 52989 5.11 0 Endosome membrane;Cytoplasm;Golgi stack;Membrane NA PE1 17 +NX_O75676 772 85606 8.51 0 Cytosol;Nucleus NA PE1 11 +NX_O75677 317 35491 7.49 0 Cytoplasm;Nucleus NA PE1 22 +NX_O75678 378 42077 8.08 0 NA NA PE2 22 +NX_O75679 317 35386 7.43 0 Cytoplasm;Nucleus NA PE1 22 +NX_O75683 361 41450 10.65 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 9 +NX_O75688 479 52643 4.95 0 Cytosol;Nucleolus;Membrane NA PE1 2 +NX_O75689 374 43395 9.1 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 7 +NX_O75690 187 17519 8.24 0 NA NA PE2 11 +NX_O75691 2785 318385 7.07 0 Nucleolus;Cell membrane NA PE1 12 +NX_O75694 1391 155199 5.78 0 Nuclear pore complex;Nucleus membrane Atrial fibrillation, familial, 15 PE1 5 +NX_O75695 350 39641 5 0 Nucleoplasm;Nucleus;Cilium;Cell membrane Retinitis pigmentosa 2 PE1 X +NX_O75711 98 11081 6.23 0 Secreted NA PE1 4 +NX_O75712 270 30818 8.94 4 Cytoplasmic vesicle;Gap junction;Cell junction;Cell membrane Deafness, autosomal dominant, 2B;Erythrokeratodermia variabilis et progressiva 1 PE1 1 +NX_O75715 221 25202 8.83 0 Secreted NA PE1 6 +NX_O75716 305 34656 6.42 0 Cytosol;Perinuclear region;Membrane NA PE1 2 +NX_O75717 1129 125967 5.42 0 Nucleoplasm NA PE1 14 +NX_O75718 401 46562 5.5 0 Cytosol;Cytoskeleton;Extracellular matrix Osteogenesis imperfecta 7 PE1 3 +NX_O75746 678 74762 8.57 6 Cytosol;Nucleus speckle;Mitochondrion inner membrane Epileptic encephalopathy, early infantile, 39 PE1 2 +NX_O75747 1445 165715 6.46 0 Membrane NA PE1 12 +NX_O75751 556 61280 8.92 7 Cytosol;Cytoplasmic vesicle;Nucleoplasm;Membrane NA PE1 6 +NX_O75752 331 39512 7.67 1 Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 3 +NX_O75762 1119 127501 6.69 6 Cell membrane Episodic pain syndrome, familial, 1 PE1 8 +NX_O75764 348 38972 9.32 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 1 +NX_O75771 328 35049 5.89 0 Nucleus;Centrosome;Telomere Breast-ovarian cancer, familial, 4 PE1 17 +NX_O75781 387 42076 4.94 0 Basolateral cell membrane;Apicolateral cell membrane;Cell membrane;Axon;Dendrite;Nucleus;Dendritic spine;Filopodium membrane NA PE1 19 +NX_O75783 438 48314 8.04 7 Nucleoplasm;Membrane NA PE1 16 +NX_O75787 350 39008 5.76 1 Membrane Parkinsonism with spasticity, X-linked;Mental retardation, X-linked, with epilepsy PE1 X +NX_O75791 330 37909 6.44 0 Cytoplasm;Endosome;Nucleus NA PE1 22 +NX_O75792 299 33395 5.14 0 Cytosol;Nucleus Aicardi-Goutieres syndrome 4 PE1 19 +NX_O75794 336 39135 4.64 0 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus NA PE1 10 +NX_O75795 530 61095 8.76 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 4 +NX_O75800 440 50344 5.81 0 Cytosol;Cytoplasm;Centriolar satellite;Apical cell membrane;Cell membrane Ciliary dyskinesia, primary, 22 PE1 3 +NX_O75807 674 73478 4.55 0 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Mitochondrion outer membrane NA PE1 19 +NX_O75808 1086 117314 6.27 0 Nucleus NA PE1 16 +NX_O75815 825 92566 8.19 0 Cytosol;Centrosome;Cell membrane NA PE1 1 +NX_O75817 140 15651 9.09 0 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Cytoplasmic granule NA PE1 7 +NX_O75818 363 41834 6.21 0 Nucleoplasm;Nucleolus NA PE1 6 +NX_O75820 626 72976 8.85 0 Cytoskeleton;Nucleus NA PE1 9 +NX_O75821 320 35611 5.87 0 Cytosol;Cytoplasm;Perinuclear region;Nucleus NA PE1 19 +NX_O75822 258 29062 4.72 0 Cytosol;Cytoplasm NA PE1 15 +NX_O75828 277 30850 5.82 0 Cytosol;Nucleoplasm;Cytoplasm NA PE1 21 +NX_O75829 334 37102 7.5 1 Extracellular matrix;Endomembrane system NA PE1 13 +NX_O75830 405 46145 5.08 0 Secreted NA PE1 3 +NX_O75832 226 24428 5.71 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA PE1 X +NX_O75838 187 21644 4.48 0 Photoreceptor inner segment;Cytoplasm;Stereocilium;Photoreceptor outer segment;Sarcolemma Usher syndrome 1J;Deafness, autosomal recessive, 48 PE1 15 +NX_O75840 302 33362 8.19 0 Nucleus;Golgi apparatus NA PE1 2 +NX_O75841 260 29643 5.16 4 Membrane NA PE1 3 +NX_O75843 785 87117 6.09 0 Endosome membrane;Cytoplasmic vesicle membrane;Golgi apparatus membrane NA PE1 14 +NX_O75844 475 54813 7.11 7 Endoplasmic reticulum membrane;Cytosol;Nucleus inner membrane;Golgi apparatus Mandibuloacral dysplasia with type B lipodystrophy;Lethal tight skin contracture syndrome PE1 1 +NX_O75845 299 35301 7.85 4 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum;Cell membrane Lathosterolosis PE1 11 +NX_O75864 691 74767 4.97 0 Cytosol NA PE1 19 +NX_O75865 159 17605 5.14 0 Endoplasmic reticulum;cis-Golgi network;Golgi apparatus NA PE1 19 +NX_O75871 244 25909 6.03 1 Membrane NA PE1 19 +NX_O75874 414 46659 6.53 0 Cytosol;Cytoplasm;Nucleus;Peroxisome Glioma PE1 2 +NX_O75879 557 61864 8.85 0 Mitochondrion NA PE1 4 +NX_O75880 301 33814 9.01 1 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex IV deficiency PE1 17 +NX_O75881 506 58256 8.2 0 Endoplasmic reticulum membrane;Microsome membrane Spastic paraplegia 5A, autosomal recessive;Congenital bile acid synthesis defect 3 PE1 8 +NX_O75882 1429 158537 7.24 1 Cytosol;Cell membrane;Secreted NA PE1 20 +NX_O75884 186 21000 5.79 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 20 +NX_O75886 525 58164 4.94 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Early endosome membrane;Cytosol NA PE1 2 +NX_O75888 250 27433 9.67 0 Secreted NA PE1 17 +NX_O75891 902 98829 5.63 0 Cytosol;Cytoplasm NA PE1 3 +NX_O75896 110 12074 9.69 0 Cytosol;Cytoplasmic vesicle NA PE1 3 +NX_O75897 302 35520 8.22 0 Cytosol;Cytoplasm NA PE1 2 +NX_O75899 941 105821 8.89 7 Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, early infantile, 59;Neurodevelopmental disorder with poor language and loss of hand skills PE1 9 +NX_O75900 390 43935 9.94 1 Endoplasmic reticulum membrane;Membrane NA PE1 1 +NX_O75901 435 50021 5.2 0 Endosome NA PE1 12 +NX_O75907 488 55278 9.41 3 Endoplasmic reticulum membrane;Nucleolus;Endoplasmic reticulum Diarrhea 7 PE1 8 +NX_O75908 522 59896 8.96 5 Endoplasmic reticulum membrane NA PE1 12 +NX_O75909 580 64240 8.6 0 Nucleoplasm;Nucleus NA PE1 14 +NX_O75911 302 33548 9.07 4 Mitochondrion;Nucleolus;Membrane NA PE1 1 +NX_O75912 1065 116997 7.98 0 Cytoplasm;Nucleus NA PE1 7 +NX_O75914 559 62310 5.33 0 Cytosol;Cytoplasm Mental retardation, X-linked 30 PE1 X +NX_O75915 188 21615 9.77 4 Endoplasmic reticulum membrane;Cytoplasm;Cytoskeleton;Cell membrane;Endoplasmic reticulum NA PE1 3 +NX_O75916 674 76966 9.42 0 Nucleoplasm;Membrane Prolonged electroretinal response suppression PE1 17 +NX_O75920 110 12349 9.79 0 Nucleus NA PE2 5 +NX_O75923 2080 237295 5.44 1 Cytoplasmic vesicle membrane;Sarcolemma;Cell membrane;Microtubule organizing center Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy 2B;Distal myopathy with anterior tibial onset PE1 2 +NX_O75925 651 71836 6.9 0 Nucleus speckle;Cytoskeleton;PML body NA PE1 15 +NX_O75928 621 68240 7.47 0 Nucleoplasm;Nucleus speckle;Nucleus;PML body NA PE1 18 +NX_O75934 225 26131 5.48 0 Nucleus speckle;Nucleolus;Centrosome NA PE1 1 +NX_O75935 186 21119 5.37 0 Kinetochore;Nucleolus;Cleavage furrow;Cytosol;Cytoplasm;Centrosome;Spindle;Midbody NA PE1 9 +NX_O75936 387 44715 6.28 0 Cytoplasm NA PE1 11 +NX_O75937 253 29842 9.04 0 Nucleoplasm;Nucleus NA PE1 1 +NX_O75940 238 26711 6.78 0 Nucleus speckle;Nucleus;Cajal body NA PE1 10 +NX_O75943 681 77055 6.63 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 5 +NX_O75947 161 18491 5.21 0 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane NA PE1 17 +NX_O75949 473 52605 8.29 2 Membrane NA PE2 X +NX_O75951 148 16956 5.73 0 Cell surface;Flagellum;Secreted NA PE1 17 +NX_O75952 493 52774 4.51 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Flagellum NA PE1 18 +NX_O75953 348 39133 9.12 0 Cytosol;Nucleus NA PE1 9 +NX_O75954 239 26779 7.89 4 Cytosol;Nucleoplasm;Golgi apparatus;Membrane NA PE1 12 +NX_O75955 427 47355 7.08 0 Endosome;Melanosome;Golgi apparatus;Cell membrane;Cytoplasmic vesicle;Caveola;Membrane raft NA PE1 6 +NX_O75956 126 13101 9.51 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 11 +NX_O75962 3097 346900 5.94 0 Cytoplasmic vesicle;Cytoplasm;Cytosol Mental retardation, autosomal dominant 44 PE1 5 +NX_O75964 103 11428 9.65 0 Mitochondrion;Mitochondrion inner membrane NA PE1 11 +NX_O75969 853 94751 5.84 0 Acrosome NA PE1 12 +NX_O75970 2070 221618 4.95 0 Synaptosome;Synapse;Apical cell membrane;Cell membrane;Dendrite;Postsynaptic density;Tight junction Hydrocephalus, congenital, 2, with or without brain or eye anomalies PE1 9 +NX_O75971 98 11328 4.55 0 Nucleus NA PE1 15 +NX_O75973 258 26453 5.32 0 Secreted NA PE1 17 +NX_O75976 1380 152931 5.68 1 Nucleoplasm;Nucleus speckle;Cell membrane;Nucleus membrane NA PE1 17 +NX_O75995 380 41595 5.17 0 Cell membrane NA PE1 X +NX_O76000 313 35543 8.77 7 Cell membrane NA PE3 6 +NX_O76001 311 34950 7.6 7 Cell membrane NA PE1 6 +NX_O76002 312 35204 8.5 7 Cell membrane NA PE2 6 +NX_O76003 335 37432 5.31 0 Cytosol;Cell cortex;Z line NA PE1 10 +NX_O76009 404 45940 4.78 0 NA NA PE1 17 +NX_O76011 436 49424 5.01 0 Cytoplasmic vesicle;Nucleus NA PE1 17 +NX_O76013 467 52247 4.9 0 NA NA PE1 17 +NX_O76014 449 49747 4.9 0 NA NA PE1 17 +NX_O76015 456 50480 4.79 0 NA NA PE1 17 +NX_O76021 490 54973 10.13 0 Nucleolus NA PE1 16 +NX_O76024 890 100292 8.34 11 Endoplasmic reticulum membrane Cataract 41;Wolfram-like syndrome autosomal dominant;Wolfram syndrome 1;Deafness, autosomal dominant, 6 PE1 4 +NX_O76027 345 38364 5.53 0 Cytosol;Nucleus speckle NA PE1 1 +NX_O76031 633 69224 7.51 0 Mitochondrion nucleoid;Mitochondrion Protoporphyria, erythropoietic, 2 PE1 15 +NX_O76036 304 34481 7.63 1 Cell membrane;Endoplasmic reticulum NA PE1 19 +NX_O76038 276 32040 5.25 0 Cytoplasm;Secretory vesicle membrane;Secreted NA PE1 6 +NX_O76039 1030 115538 9.58 0 Nucleoplasm;Nucleus;Centrosome;Cilium basal body Epileptic encephalopathy, early infantile, 2 PE1 X +NX_O76041 1014 116453 7.89 0 Cytoplasm NA PE1 10 +NX_O76042 136 14968 8.57 0 NA NA PE5 3 +NX_O76050 574 61860 8.89 0 Postsynaptic density;Perinuclear region;Perikaryon;Cell membrane;Dendrite NA PE1 10 +NX_O76054 403 46145 7.95 0 Cytosol;Cytoplasm;Nucleus NA PE1 22 +NX_O76061 302 33249 6.93 0 Endoplasmic reticulum;Secreted NA PE1 5 +NX_O76062 418 46406 9.05 7 Endoplasmic reticulum membrane;Microsome membrane;Cytoplasmic vesicle;Endoplasmic reticulum NA PE1 11 +NX_O76064 485 55518 7.08 0 Cytosol;Cytoplasm;Nucleus;Midbody;Telomere NA PE1 6 +NX_O76070 127 13331 4.89 0 Spindle;Perinuclear region;Centrosome NA PE1 10 +NX_O76071 339 37840 4.81 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 2 +NX_O76074 875 99985 5.74 0 Cytosol NA PE1 4 +NX_O76075 338 39110 9.2 0 Cytoplasm;Nucleolus;Nucleus NA PE1 1 +NX_O76076 250 26825 8.32 0 Secreted NA PE1 20 +NX_O76080 213 23132 8.86 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 9 +NX_O76081 388 43692 6.48 0 Cytoplasm;Nucleus;Membrane NA PE1 8 +NX_O76082 557 62752 8.07 12 Mitochondrion;Membrane Systemic primary carnitine deficiency PE1 5 +NX_O76083 593 68493 5.85 0 Sarcolemma;Golgi apparatus;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Perinuclear region;Ruffle membrane NA PE1 21 +NX_O76087 117 12978 4.3 0 NA NA PE2 X +NX_O76090 585 67684 6.43 4 Basolateral cell membrane;Cell membrane Bestrophinopathy, autosomal recessive;Macular dystrophy, vitelliform, 2;Retinitis pigmentosa 50;Vitreoretinochoroidopathy, autosomal dominant PE1 11 +NX_O76093 207 23989 9.86 0 Secreted NA PE1 5 +NX_O76094 671 74606 9.31 0 Cytoplasm;Endoplasmic reticulum Bone marrow failure syndrome 1 PE1 4 +NX_O76095 146 16358 8.67 1 Cytoplasm;Cytoplasmic vesicle;Spindle;Membrane;Mitochondrion;Cytoskeleton;Centrosome NA PE1 1 +NX_O76096 145 16454 8.82 0 Cytoplasm;Secreted NA PE1 20 +NX_O76099 320 35519 7.55 7 Cell membrane NA PE2 19 +NX_O76100 309 34406 8.02 7 Cell membrane NA PE3 19 +NX_O77932 396 44929 7.6 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA PE1 6 +NX_O94759 1503 171198 7.27 6 Perikaryon;Nucleus membrane;Lysosome;Cell membrane;Cytoplasmic vesicle;Cell projection NA PE1 21 +NX_O94760 285 31122 5.53 0 Cytosol;Nucleolus;Cell membrane NA PE1 1 +NX_O94761 1208 133067 8.45 0 Cytoplasm;Nucleus Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome PE1 8 +NX_O94762 991 108858 8.86 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 17 +NX_O94763 535 59832 4.92 0 Nucleoplasm;Cytosol;Cytoplasm;Dendrite;Nucleus;Mitochondrion NA PE1 19 +NX_O94766 335 37122 8.4 1 Golgi apparatus membrane;cis-Golgi network Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects PE1 11 +NX_O94768 372 42344 5.13 0 Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;Nucleus;Cell membrane NA PE1 2 +NX_O94769 699 79789 5.3 0 Extracellular matrix NA PE1 9 +NX_O94772 140 14669 6.91 0 Cell membrane NA PE1 8 +NX_O94776 668 75023 9.7 0 Nucleoplasm;Nucleus NA PE1 11 +NX_O94777 84 9312 9.82 2 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1U PE1 9 +NX_O94778 261 27381 6.41 6 Membrane NA PE2 16 +NX_O94779 1100 120686 5.99 0 Cytosol;Cell membrane NA PE1 11 +NX_O94782 785 88207 5.37 0 Nucleoplasm;Nucleus NA PE1 1 +NX_O94788 518 56724 5.79 0 Cytoplasm NA PE1 15 +NX_O94804 968 112135 6.52 0 Cell membrane Testicular germ cell tumor PE1 5 +NX_O94805 426 46877 5.48 0 Nucleolus;Nucleus NA PE1 7 +NX_O94806 890 100471 6.42 0 Cytosol;Cytoplasm;Nucleoplasm;Membrane NA PE1 2 +NX_O94808 682 76931 7.03 0 Cytoplasmic vesicle NA PE1 5 +NX_O94810 467 52946 8.99 0 NA NA PE1 16 +NX_O94811 219 23694 9.48 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Mitochondrion NA PE1 5 +NX_O94812 1187 131901 5.95 0 Cytosol;Recycling endosome membrane;Late endosome membrane;trans-Golgi network membrane;Cell membrane NA PE1 16 +NX_O94813 1529 169870 6.8 0 Secreted NA PE1 4 +NX_O94817 140 15113 5.01 0 Cytoplasm;Preautophagosomal structure membrane NA PE1 5 +NX_O94818 638 71357 5.42 0 Nucleolus;Nucleus NA PE1 18 +NX_O94819 623 65720 5.78 0 Cytoskeleton NA PE1 8 +NX_O94822 1766 200552 5.89 0 Cytosol NA PE1 21 +NX_O94823 1461 165391 6.46 10 Endoplasmic reticulum membrane;Cytoplasmic vesicle membrane NA PE1 5 +NX_O94826 608 67455 6.75 1 Mitochondrion;Cell membrane;Mitochondrion outer membrane NA PE1 3 +NX_O94827 1062 117451 5.93 0 Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Lamellipodium;Cell junction Charcot-Marie-Tooth disease, recessive, intermediate type, C;Distal spinal muscular atrophy, autosomal recessive, 4 PE1 1 +NX_O94829 963 108195 5.15 0 Cytoplasm;Nucleus NA PE1 1 +NX_O94830 711 81032 5.23 0 Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;cis-Golgi network;Microtubule organizing center Spastic paraplegia 54, autosomal recessive PE1 8 +NX_O94832 1006 116202 9.44 0 Cytosol NA PE1 17 +NX_O94842 621 66195 4.92 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA PE1 14 +NX_O94844 696 79417 6.42 0 Cytosol;Nucleoplasm NA PE1 10 +NX_O94850 711 75996 10.18 0 Endoplasmic reticulum membrane;Dendritic spine membrane;Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Perikaryon NA PE1 12 +NX_O94851 1124 126689 8.9 0 Nucleus;Golgi apparatus NA PE1 11 +NX_O94854 1291 135148 4.14 0 Cytoskeleton;Cell junction;Cell membrane NA PE1 1 +NX_O94855 1032 113010 6.91 0 Cytoplasmic vesicle;Cytosol;COPII-coated vesicle membrane;Endoplasmic reticulum membrane Cole-Carpenter syndrome 2 PE1 4 +NX_O94856 1347 150027 6.24 1 Cell membrane NA PE1 1 +NX_O94864 414 46193 5.01 0 Nucleoplasm;Nucleus NA PE1 2 +NX_O94868 740 84276 5.55 0 Nucleus speckle;Cytoskeleton;Focal adhesion;Cell membrane NA PE1 11 +NX_O94874 794 89595 6.35 0 Cytosol;Endoplasmic reticulum NA PE1 6 +NX_O94875 1100 124108 8.56 0 Nucleoplasm;Lamellipodium;Focal adhesion;Apical cell membrane;Perinuclear region NA PE1 4 +NX_O94876 653 72083 6.12 2 Endoplasmic reticulum membrane NA PE1 3 +NX_O94880 888 100053 5.22 0 Cytosol;Cytoplasmic vesicle;Nucleus NA PE1 7 +NX_O94885 1247 136653 5.78 0 Cytosol;Nucleoplasm NA PE1 6 +NX_O94886 807 92126 6.98 10 Cytoplasmic vesicle;Lysosome membrane;Microtubule organizing center NA PE1 1 +NX_O94887 1054 119888 8.96 0 Cytosol NA PE1 2 +NX_O94888 489 54862 5.06 0 Nucleoplasm;Nucleus NA PE1 3 +NX_O94889 574 63638 5.36 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 3 +NX_O94892 652 74836 9.04 0 Nucleoplasm;Nucleus NA PE1 19 +NX_O94898 1065 118965 5.35 1 Cytoplasm;Nucleus;Cell membrane;Golgi apparatus Urofacial syndrome 2 PE1 1 +NX_O94900 526 57513 6.85 0 Nucleolus;Nucleus NA PE1 8 +NX_O94901 812 90064 6.61 1 Cytoplasm;Nucleus inner membrane;Nucleus membrane NA PE1 7 +NX_O94903 275 30344 7.09 0 Cytosol;Cytoplasm;Nucleus Epilepsy, early-onset, vitamin B6-dependent PE1 8 +NX_O94905 339 37840 5.47 1 Endoplasmic reticulum membrane;Endoplasmic reticulum Spastic paraplegia 18, autosomal recessive PE1 8 +NX_O94906 941 106925 8.49 0 Nucleoplasm;Nucleus speckle Retinitis pigmentosa 60 PE1 20 +NX_O94907 266 28672 8.8 0 Secreted NA PE1 10 +NX_O94910 1474 162717 6.17 7 Synaptosome;Synapse;Cell membrane;Axon;Presynaptic cell membrane;Growth cone NA PE1 19 +NX_O94911 1581 179245 6.81 14 Cytosol;Nucleoplasm;Cell membrane NA PE1 17 +NX_O94913 1555 173050 8.65 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 11 +NX_O94915 3013 339598 5.36 0 Cytosol;Cytoskeleton NA PE1 4 +NX_O94916 1531 165763 5.12 0 Cytosol;Cytoplasm;Nucleus NA PE1 16 +NX_O94919 500 55017 5.55 0 Nucleus membrane;Secreted NA PE1 11 +NX_O94921 469 53057 9.06 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 7 +NX_O94923 617 70101 9.04 1 Mitochondrion;Golgi apparatus membrane NA PE1 15 +NX_O94925 669 73461 7.85 0 Mitochondrion;Cytosol NA PE1 2 +NX_O94927 633 71682 8.83 0 Spindle;Centrosome NA PE1 19 +NX_O94929 683 77802 8.86 0 Nucleoplasm;Cytoplasm;Cell junction;Cell membrane NA PE1 5 +NX_O94933 977 108934 7.03 1 Mitochondrion;Membrane NA PE1 3 +NX_O94941 541 58966 7.53 0 Nucleoplasm;Nucleus NA PE1 20 +NX_O94952 628 72270 5.73 0 Mitochondrion NA PE1 12 +NX_O94953 1096 121897 6.72 0 Cytosol;Nucleus NA PE1 19 +NX_O94955 611 69413 7.72 0 Cytoplasmic vesicle;Golgi apparatus NA PE1 5 +NX_O94956 709 76711 8.7 12 Cell membrane NA PE1 11 +NX_O94964 1423 159760 6.08 0 Cytosol;Nucleolus;Secreted NA PE1 20 +NX_O94966 1318 145651 5.89 1 Endoplasmic reticulum membrane NA PE1 3 +NX_O94967 919 101949 5.59 0 Cytoskeleton NA PE1 1 +NX_O94972 964 107906 5.04 0 Perinuclear region;Peroxisome Mulibrey nanism PE1 17 +NX_O94973 939 103960 6.53 0 Nucleoplasm;Cytoplasmic vesicle;Coated pit;Cell membrane NA PE1 11 +NX_O94979 1220 133015 6.43 0 Endoplasmic reticulum membrane;Cytoplasm;COPII-coated vesicle membrane;Cytoplasmic vesicle;Cytosol NA PE1 4 +NX_O94983 1202 131530 6.92 0 Mitochondrion;Cytoskeleton;Nucleus NA PE1 17 +NX_O94985 981 109793 4.81 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Postsynaptic cell membrane;Nucleus;Cell projection NA PE1 1 +NX_O94986 1710 195626 5.45 0 Centriole;Centrosome Microcephaly 9, primary, autosomal recessive;Seckel syndrome 5 PE1 15 +NX_O94988 1023 116932 6.07 0 Cytosol;Nucleolus;Cell junction NA PE1 4 +NX_O94989 841 91940 8.61 0 Dendrite;Cell membrane NA PE1 17 +NX_O94991 958 107486 6.48 1 Nucleoplasm;Golgi apparatus;Membrane NA PE1 13 +NX_O94992 359 40623 4.84 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA PE1 17 +NX_O94993 753 81854 6.92 0 Nucleus NA PE1 5 +NX_O95006 317 35294 8.66 7 Cell membrane NA PE2 7 +NX_O95007 311 35299 8.82 7 Cell membrane NA PE2 7 +NX_O95013 312 35094 9.03 7 Cell membrane NA PE3 8 +NX_O95025 777 89651 7.94 0 Golgi apparatus;Cell membrane;Secreted NA PE1 7 +NX_O95045 317 35527 6.21 0 Mitochondrion;Cytoplasmic vesicle;Nucleus NA PE1 2 +NX_O95047 310 34802 9.18 7 Cell membrane NA PE2 6 +NX_O95049 919 101397 6.29 0 Nucleoplasm;Nucleus;Tight junction;Cell membrane;Cell junction NA PE1 19 +NX_O95050 263 28891 5.15 0 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus NA PE1 7 +NX_O95057 198 22329 8.94 0 Cell membrane NA PE1 19 +NX_O95059 124 13693 7.62 0 Cytosol;Nucleoplasm;Nucleus NA PE1 3 +NX_O95067 398 45282 9 0 Cytosol;Cytoskeleton;Golgi apparatus NA PE1 15 +NX_O95069 426 47093 8.46 4 Endoplasmic reticulum membrane;Cell membrane NA PE1 1 +NX_O95070 293 32011 8.98 5 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus;Microtubule organizing center NA PE1 11 +NX_O95071 2799 309352 5.59 0 Cytosol;Nucleoplasm;Nucleus NA PE1 8 +NX_O95072 547 62614 5 0 Nucleoplasm;Nucleus;Centromere;Chromosome NA PE1 14 +NX_O95073 299 34768 6.62 0 Nucleus NA PE1 8 +NX_O95076 343 36935 8.81 0 Nucleus Frontonasal dysplasia 1 PE1 1 +NX_O95081 481 48963 9.28 0 NA NA PE1 7 +NX_O95084 383 43001 9.48 0 Golgi apparatus;Secreted NA PE1 11 +NX_O95096 273 30133 7.81 0 Nucleus NA PE1 20 +NX_O95104 1147 125869 9.58 0 Nucleoplasm;Nucleus NA PE1 21 +NX_O95125 648 74720 5.63 0 Nucleus NA PE1 11 +NX_O95136 353 38867 9.21 7 Nucleus speckle;Golgi apparatus;Cell membrane Deafness, autosomal recessive, 68 PE1 19 +NX_O95139 128 15489 9.63 1 Mitochondrion;Mitochondrion inner membrane NA PE1 9 +NX_O95140 757 86402 6.52 2 Mitochondrion outer membrane Neuropathy, hereditary motor and sensory, 6A;Charcot-Marie-Tooth disease 2A2A;Charcot-Marie-Tooth disease 2A2B PE1 1 +NX_O95147 198 22255 9.62 0 Cytosol;Nucleoplasm NA PE1 17 +NX_O95149 360 41143 6.17 0 Cytoplasm;Nucleus;Nucleus membrane NA PE1 15 +NX_O95150 251 28087 6.31 1 Cytosol;Membrane;Nucleus;Nucleus membrane;Secreted NA PE1 9 +NX_O95153 1857 200051 5.05 0 Mitochondrion;Cytoplasm NA PE1 17 +NX_O95154 331 37206 6.67 0 Cytoplasm NA PE1 1 +NX_O95155 1302 146185 6.13 0 Cytoplasm;Nucleus NA PE1 1 +NX_O95156 264 29938 8.95 0 Secreted NA PE2 2 +NX_O95157 252 28127 8.82 0 Secreted NA PE1 17 +NX_O95158 308 33065 9.89 0 Secreted NA PE1 12 +NX_O95159 310 34114 8.42 1 cis-Golgi network membrane;Golgi apparatus NA PE1 11 +NX_O95163 1332 150254 5.61 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Neuropathy, hereditary sensory and autonomic, 3 PE1 9 +NX_O95164 117 13157 6.27 0 Cytoplasm;Nucleus;Centrosome;Cell membrane NA PE1 13 +NX_O95166 117 13918 8.73 0 Cytoplasmic vesicle;Cytoskeleton;Golgi apparatus membrane;Autophagosome;Endomembrane system NA PE1 17 +NX_O95167 84 9279 8.01 1 Mitochondrion inner membrane NA PE1 19 +NX_O95168 129 15209 9.85 1 Mitochondrion;Mitochondrion inner membrane;Nucleus membrane NA PE1 3 +NX_O95169 186 21766 6.29 1 Mitochondrion;Mitochondrion inner membrane;Endoplasmic reticulum NA PE1 10 +NX_O95170 752 85370 9.23 0 NA NA PE2 17 +NX_O95171 688 77552 9.42 0 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane;Membrane NA PE1 13 +NX_O95177 125 12619 8.04 0 NA NA PE5 16 +NX_O95178 105 12058 5.47 0 Mitochondrion inner membrane NA PE1 7 +NX_O95180 2353 259163 7.13 24 Cytoplasmic vesicle;Nucleoplasm;Cell membrane Hyperaldosteronism, familial, 4;Epilepsy, idiopathic generalized 6;Epilepsy, childhood absence 6 PE1 16 +NX_O95182 113 12551 10.19 0 Mitochondrion;Cytoplasm;Mitochondrion inner membrane;Cell membrane NA PE1 19 +NX_O95183 116 12805 7.7 1 trans-Golgi network membrane;Cell membrane;Endomembrane system NA PE1 2 +NX_O95185 931 103146 5.74 1 Synaptosome;Cell membrane NA PE1 4 +NX_O95190 189 21011 5.21 0 Nucleus;Golgi apparatus NA PE1 15 +NX_O95196 566 60016 4.39 1 Endoplasmic reticulum membrane;Nucleoplasm;Cell membrane;Golgi apparatus membrane;Mitochondrion;Cell surface NA PE1 3 +NX_O95197 1032 112611 4.85 0 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum NA PE1 11 +NX_O95198 593 65975 6.3 0 Ruffle;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Lamellipodium;Cytoskeleton;Cell projection NA PE1 4 +NX_O95199 551 60315 5.29 0 Nucleus;Acrosome;Golgi apparatus NA PE1 13 +NX_O95201 554 60630 8.88 0 Nucleoplasm;Nucleus NA PE1 16 +NX_O95202 739 83354 6.3 1 Mitochondrion;Mitochondrion inner membrane NA PE1 4 +NX_O95206 1070 113019 5.35 1 Golgi apparatus;Cytosol;Cell membrane;Dendrite;Postsynaptic cell membrane;Presynaptic cell membrane NA PE1 13 +NX_O95208 641 68482 7.11 0 Cytoplasmic vesicle;Cytoplasm;Clathrin-coated vesicle NA PE1 17 +NX_O95210 358 39007 5.46 1 Cytosol;Endoplasmic reticulum membrane;Preautophagosomal structure membrane NA PE1 4 +NX_O95214 131 14428 5.55 4 Membrane NA PE1 8 +NX_O95218 330 37404 10.03 0 Nucleus NA PE1 1 +NX_O95219 450 51909 5.69 0 Early endosome membrane;Early endosome NA PE1 3 +NX_O95221 314 35132 8.9 7 Cell membrane NA PE2 11 +NX_O95222 327 36154 8.4 7 Cell membrane NA PE2 11 +NX_O95229 277 31293 5.1 0 Kinetochore;Nucleoplasm;Nucleus;Cytosol NA PE1 10 +NX_O95231 258 27552 9.74 0 Cytosol;Nucleolus;Nucleus NA PE1 10 +NX_O95232 432 51466 9.81 0 Nucleus speckle NA PE1 17 +NX_O95235 890 100278 6.49 0 Nucleoplasm;Spindle;Cytoskeleton;Golgi apparatus;Cleavage furrow NA PE1 5 +NX_O95236 402 44278 8.4 0 Mitochondrion;Cytoplasm;Nucleus NA PE1 22 +NX_O95237 230 25703 7.01 1 Endoplasmic reticulum membrane;Rough endoplasmic reticulum;Golgi apparatus;Endoplasmic reticulum;Perinuclear region;Multivesicular body Leber congenital amaurosis 14 PE1 4 +NX_O95238 335 37518 5.89 0 Nucleolus;Nucleus NA PE1 6 +NX_O95239 1232 139881 5.99 0 Spindle;Nucleus matrix;Midbody;Chromosome Mental retardation, X-linked 100 PE1 X +NX_O95243 580 66051 9.01 0 Nucleus speckle;Nucleus NA PE1 3 +NX_O95248 1868 208443 6.46 0 Nucleus Charcot-Marie-Tooth disease 4B3 PE1 22 +NX_O95249 250 28613 9.46 1 Golgi apparatus membrane NA PE1 17 +NX_O95251 611 70642 9.01 0 Cytosol;Nucleoplasm;Nucleus NA PE1 17 +NX_O95255 1503 164906 8.82 17 Endoplasmic reticulum membrane;Basolateral cell membrane;Cell membrane Pseudoxanthoma elasticum;Arterial calcification of infancy, generalized, 2 PE1 16 +NX_O95256 599 68310 8.67 1 Cell membrane NA PE1 2 +NX_O95257 159 17121 4.26 0 Nucleus NA PE1 9 +NX_O95258 325 36202 9.66 6 Mitochondrion;Mitochondrion inner membrane NA PE1 X +NX_O95259 989 111423 7.52 6 Cytoplasmic vesicle;Perikaryon;Early endosome membrane;Cell membrane;Axon;Dendrite;Presynaptic cell membrane;Postsynaptic density;Nucleus inner membrane Zimmermann-Laband syndrome 1;Temple-Baraitser syndrome PE1 1 +NX_O95260 518 59090 8.17 0 Cytoplasm;Nucleus NA PE1 10 +NX_O95263 885 98979 6.35 0 Nucleoplasm;Cytosol Primary pigmented nodular adrenocortical disease 3;Striatal degeneration, autosomal dominant 1 PE1 5 +NX_O95264 441 50292 5.15 4 Cell membrane NA PE1 11 +NX_O95267 797 90402 8.2 0 Endoplasmic reticulum membrane;Cytosol;Golgi apparatus membrane;Cell membrane Systemic lupus erythematosus PE1 15 +NX_O95271 1327 142039 6.58 0 Nucleus membrane;Nucleoplasm;Cytoplasm;Nuclear pore complex;Telomere;Golgi apparatus membrane;Centromere;Spindle pole NA PE1 8 +NX_O95273 360 40262 4.71 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 15 +NX_O95274 346 35971 8.05 0 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane NA PE1 19 +NX_O95278 331 37158 6.19 0 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm Epilepsy, progressive myoclonic 2 PE1 6 +NX_O95279 499 55130 6.3 4 Nucleus;Membrane NA PE1 6 +NX_O95292 243 27228 6.85 1 Endoplasmic reticulum membrane;Endoplasmic reticulum Amyotrophic lateral sclerosis 8;Spinal muscular atrophy, proximal, adult, autosomal dominant PE1 20 +NX_O95294 804 90016 6.09 0 Cytosol;Cell junction;Cell membrane NA PE1 12 +NX_O95295 136 14874 9.35 0 Synaptic vesicle membrane;Nucleolus;Golgi apparatus;Cytosol;Perinuclear region;Lysosome membrane;Golgi apparatus membrane;Membrane NA PE1 1 +NX_O95297 269 29082 8.85 1 Cytoplasmic vesicle;Cell membrane;Membrane NA PE1 1 +NX_O95298 119 14188 9.04 1 Cytoplasm;Mitochondrion inner membrane NA PE1 11 +NX_O95299 355 40751 8.67 0 Mitochondrion;Mitochondrion matrix Leigh syndrome PE1 2 +NX_O95302 570 63084 4.91 0 Endoplasmic reticulum NA PE1 7 +NX_O95319 508 54285 8.98 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA PE1 10 +NX_O95336 258 27547 5.7 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 19 +NX_O95340 614 69501 8.18 0 Mitochondrion Brachyolmia type 4 with mild epiphyseal and metaphyseal changes PE1 10 +NX_O95342 1321 146407 6.17 12 Cytosol;Nucleoplasm;Cell membrane;Membrane Cholestasis, benign recurrent intrahepatic, 2;Cholestasis, progressive familial intrahepatic, 2 PE1 2 +NX_O95343 332 35487 8.95 0 Nucleoplasm;Nucleus Schizencephaly;Holoprosencephaly 2 PE1 2 +NX_O95347 1197 135656 8.54 0 Cytoplasm;Nucleolus;Nucleus;Chromosome NA PE1 9 +NX_O95352 703 77960 5.85 0 Nucleoplasm;Cytoplasm;Preautophagosomal structure;Cytosol;Cell membrane NA PE1 3 +NX_O95359 2948 309427 4.71 0 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Centrosome NA PE1 10 +NX_O95361 564 63955 5.34 0 Cytoplasm NA PE1 17 +NX_O95363 451 52357 6.99 0 Mitochondrion;Mitochondrion matrix;Cell membrane Combined oxidative phosphorylation deficiency 14;Spastic paraplegia 77, autosomal recessive PE1 6 +NX_O95365 584 61439 4.98 0 Nucleoplasm;Nucleus NA PE1 19 +NX_O95371 312 34412 8.96 7 Cell membrane NA PE2 16 +NX_O95372 231 24737 6.74 0 Cytoplasm NA PE1 1 +NX_O95373 1038 119517 4.7 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 11 +NX_O95376 493 57819 5.4 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 3 +NX_O95377 273 31088 8.53 4 Gap junction;Cell membrane NA PE1 1 +NX_O95379 198 23003 7.75 0 Nucleoplasm;Cytoplasm NA PE1 5 +NX_O95382 1288 142596 6.7 0 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA PE1 1 +NX_O95388 367 40331 6.84 0 Cytosol;Secreted NA PE1 8 +NX_O95389 354 39293 8.87 0 Endoplasmic reticulum;Secreted Progressive pseudorheumatoid arthropathy of childhood PE1 6 +NX_O95390 407 45091 8.18 0 Cytoplasmic vesicle;Secreted NA PE1 12 +NX_O95391 586 68387 6.69 0 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA PE1 5 +NX_O95393 424 48047 4.89 0 Secreted NA PE1 2 +NX_O95394 542 59852 5.84 0 Nucleoplasm;Cytosol Immunodeficiency 23 PE1 6 +NX_O95395 438 50864 8.53 1 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus NA PE1 15 +NX_O95396 460 49669 5.85 0 Cytoplasm NA PE1 20 +NX_O95397 391 43539 5.03 0 NA NA PE5 12 +NX_O95398 923 103751 7.28 0 Cytosol;Endomembrane system NA PE1 12 +NX_O95399 124 14296 7.67 0 Secreted NA PE1 1 +NX_O95400 341 37646 4.49 0 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA PE1 16 +NX_O95402 600 65446 9.27 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytosol NA PE1 19 +NX_O95405 1425 156403 4.89 0 Cytoplasmic vesicle;Cytoplasm;Early endosome membrane;Cytosol NA PE1 1 +NX_O95406 144 16699 5.39 3 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE1 14 +NX_O95407 300 32680 8.68 0 Secreted NA PE1 20 +NX_O95409 532 55006 8.68 0 Cytoplasm;Nucleus Holoprosencephaly 5 PE1 13 +NX_O95411 115 12414 8.35 0 Nucleus NA PE2 17 +NX_O95415 125 13645 8.69 2 Lysosome membrane NA PE1 7 +NX_O95416 240 26485 9.68 0 Nucleus NA PE1 3 +NX_O95424 95 10429 3.61 0 Cytosol;Cytoplasm;Nucleus speckle NA PE2 16 +NX_O95425 2214 247746 6.55 0 Cleavage furrow;Cytosol;Cell membrane;Midbody;Cytoskeleton;Podosome;Invadopodium NA PE1 10 +NX_O95427 931 105810 8.82 15 Endoplasmic reticulum membrane;Cytosol;Cell membrane Multiple congenital anomalies-hypotonia-seizures syndrome 1 PE1 18 +NX_O95428 1278 137700 6.45 0 Nucleoplasm;Secreted NA PE1 14 +NX_O95429 457 49594 5.02 0 Cytoplasm NA PE1 8 +NX_O95433 338 38274 5.41 0 Cytosol;Endoplasmic reticulum NA PE1 14 +NX_O95436 690 75759 8.54 8 Membrane Pulmonary alveolar microlithiasis PE1 4 +NX_O95445 188 21253 5.66 0 Cell membrane;Golgi apparatus;Secreted NA PE1 6 +NX_O95447 670 76505 9.51 0 Cytosol;Nucleoplasm NA PE1 21 +NX_O95450 1211 134755 6.76 0 Cytoplasmic vesicle;Cell membrane;Extracellular matrix Ehlers-Danlos syndrome, dermatosparaxis type PE1 5 +NX_O95452 261 30387 8.81 4 Gap junction;Cell junction;Cell membrane Ectodermal dysplasia 2, Clouston type;Deafness, autosomal recessive, 1B;Deafness, autosomal dominant, 3B PE1 13 +NX_O95453 639 73451 5.86 0 Cytoplasm;Nucleolus;Nucleus;Nucleus speckle Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 4;Dyskeratosis congenita, autosomal recessive, 6 PE1 16 +NX_O95455 350 40214 6.15 0 Cytoskeleton;Nucleolus;Nucleus;Cleavage furrow Catel-Manzke syndrome PE1 13 +NX_O95456 288 32854 6.88 0 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus;Endoplasmic reticulum NA PE1 21 +NX_O95460 622 68487 5.73 0 Secreted NA PE1 20 +NX_O95461 756 88066 7.89 1 Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 PE1 22 +NX_O95466 1100 121854 5.56 0 Cytosol;Cytoplasm;Cell cortex;Phagosome;Cell membrane;Bleb NA PE1 17 +NX_O95467 245 28029 5.37 0 Secretory vesicle;Secreted Pseudohypoparathyroidism 1B;ACTH-independent macronodular adrenal hyperplasia 1;GNAS hyperfunction PE1 20 +NX_O95470 568 63524 9.24 1 Endoplasmic reticulum membrane;Endoplasmic reticulum Nephrotic syndrome 14 PE1 10 +NX_O95471 211 22418 8.91 4 Cytoplasmic vesicle;Tight junction;Basolateral cell membrane;Cell junction;Cell membrane NA PE1 17 +NX_O95473 234 25820 7.64 4 Golgi apparatus;Membrane NA PE1 19 +NX_O95475 246 27687 9.49 0 Nucleoplasm;Nucleus Optic disk anomalies with retinal and/or macular dystrophy PE1 14 +NX_O95476 244 28377 9.78 1 Endoplasmic reticulum membrane;Lipid droplet;Nucleus membrane NA PE1 17 +NX_O95477 2261 254302 6.43 15 Nucleoplasm;Cytoplasmic vesicle;Membrane High density lipoprotein deficiency 2;High density lipoprotein deficiency 1 PE1 9 +NX_O95478 260 30065 10.28 0 Nucleolus;Nucleus NA PE1 5 +NX_O95479 791 88893 6.84 0 Cytosol;Endoplasmic reticulum lumen Cortisone reductase deficiency 1 PE1 1 +NX_O95484 217 22848 6.54 4 Cytoplasmic vesicle;Cell membrane;Cell junction;Tight junction NA PE1 16 +NX_O95486 1093 119749 7.58 0 Cytoplasmic vesicle;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Nucleolus;Cytosol NA PE1 5 +NX_O95487 1268 137418 6.19 0 Cytoplasmic vesicle;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Nucleus;Cytosol NA PE1 4 +NX_O95490 1459 163349 6.02 7 Cell junction;Cell membrane;Membrane NA PE1 1 +NX_O95497 513 57012 5.32 0 Cell membrane NA PE1 6 +NX_O95498 520 58503 6.07 0 Cell membrane NA PE1 6 +NX_O95500 239 25699 8.94 4 Cytoplasmic vesicle;Cell membrane;Tight junction Deafness, autosomal recessive, 29 PE1 21 +NX_O95502 500 52846 5.82 1 Nucleoplasm;Cytosol;Cell membrane;Membrane NA PE1 22 +NX_O95503 412 43898 10.02 0 Mitochondrion;Nucleus;Chromosome NA PE1 22 +NX_O95521 474 55149 8.88 0 NA NA PE2 1 +NX_O95522 483 54633 6.11 0 Nucleoplasm NA PE3 1 +NX_O95528 541 56911 8.9 12 Nucleoplasm;Cytoplasmic vesicle;Perinuclear region;Endomembrane system Arterial tortuosity syndrome PE1 20 +NX_O95544 446 49228 6.03 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 1 +NX_O95551 362 40930 5.02 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;PML body Spinocerebellar ataxia, autosomal recessive, 23 PE1 6 +NX_O95561 183 21209 9.86 0 NA NA PE1 1 +NX_O95562 160 17779 9.34 4 Membrane NA PE1 1 +NX_O95563 127 14279 10.44 3 Mitochondrion;Mitochondrion inner membrane NA PE1 1 +NX_O95567 290 32655 10.06 0 NA NA PE2 22 +NX_O95568 372 42148 6.29 0 Nucleoplasm;Cytosol NA PE1 1 +NX_O95571 254 27873 6.35 0 Mitochondrion matrix;Cytoplasm;Mitochondrion;Nucleus Ethylmalonic encephalopathy PE1 19 +NX_O95573 720 80420 8.65 1 Endoplasmic reticulum membrane;Microsome membrane;Peroxisome membrane;Lipid droplet;Mitochondrion outer membrane;Nucleolus NA PE1 2 +NX_O95600 359 39314 7.19 0 Nucleoplasm;Nucleus NA PE1 X +NX_O95602 1720 194811 6.61 0 Nucleolus;Nucleus Acrofacial dysostosis, Cincinnati type PE1 2 +NX_O95613 3336 378037 5.4 0 Centrosome Microcephalic osteodysplastic primordial dwarfism 2 PE1 21 +NX_O95619 227 26499 8.4 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE1 12 +NX_O95620 317 35816 7.04 0 Cytosol NA PE1 7 +NX_O95622 1261 138908 6.9 12 Cytoskeleton;Cilium;Cell membrane Dyskinesia, familial, with facial myokymia PE1 3 +NX_O95625 1053 119384 8.93 0 Nucleoplasm;Nucleus NA PE1 3 +NX_O95626 131 14806 4.98 0 NA NA PE2 12 +NX_O95628 575 63510 6.58 0 Cytoplasm;Nucleus NA PE1 7 +NX_O95630 424 48077 5.89 0 Cytosol;Cytoplasm;Membrane;Cell membrane;Nucleoplasm;Nucleus;Early endosome Microcephaly-capillary malformation syndrome PE1 2 +NX_O95631 604 67748 9.1 0 Extracellular matrix NA PE1 17 +NX_O95633 263 27663 6.37 0 Nucleoplasm;Nucleus;Secreted NA PE1 19 +NX_O95639 269 30255 8.68 0 Nucleoplasm;Nucleus NA PE1 7 +NX_O95644 943 101243 6.52 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 18 +NX_O95661 229 25861 9.46 0 Cytosol;Cell membrane;Nucleus membrane NA PE1 1 +NX_O95665 410 45385 9.5 7 Cell membrane NA PE1 2 +NX_O95670 118 13604 10.26 0 Melanosome NA PE1 6 +NX_O95671 621 68857 5.71 0 Cytosol NA PE1 X +NX_O95672 775 87791 6.58 1 Nucleoplasm;Nucleolus;Nucleus membrane;Membrane Arthrogryposis, distal, 5D PE1 2 +NX_O95674 445 51418 6.64 6 Cytosol;Mitochondrion inner membrane;Endoplasmic reticulum NA PE1 20 +NX_O95677 639 69505 5.04 0 Nucleoplasm;Cytoplasm;Nucleus Cardiomyopathy, dilated 1J;Deafness, autosomal dominant, 10 PE1 6 +NX_O95678 551 59560 7.6 0 Cytosol;Cell membrane Loose anagen hair syndrome PE1 12 +NX_O95684 399 43065 4.67 0 Centriole;Centrosome;Cilium basal body NA PE1 6 +NX_O95685 299 32559 8.44 0 Mitochondrion;Cytoplasmic vesicle;Nucleolus NA PE1 20 +NX_O95696 1058 119520 8.91 0 Nucleus speckle;Nucleus NA PE1 22 +NX_O95704 486 52585 5.97 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA PE1 5 +NX_O95707 220 25425 10.08 0 Nucleolus NA PE1 19 +NX_O95711 162 17906 5.83 0 Extracellular space NA PE1 6 +NX_O95714 4834 527228 5.88 0 Centriole;Cytoplasmic vesicle;Nucleus;Cytoplasm Mental retardation, autosomal recessive 38 PE1 15 +NX_O95715 111 13078 10.1 0 Golgi apparatus;Secreted NA PE1 5 +NX_O95716 219 24267 4.76 0 Cytoplasmic vesicle;Cell membrane NA PE1 19 +NX_O95718 433 48054 8.09 0 Cytoplasm;Nucleus;Chromosome Deafness, autosomal recessive, 35 PE1 14 +NX_O95721 258 28970 5.56 0 Autophagosome membrane;Cytosol;Nucleoplasm;Cytoplasm;Cilium membrane;Golgi apparatus membrane Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome PE1 22 +NX_O95727 393 44641 6.37 1 Membrane NA PE1 11 +NX_O95741 557 61991 5.32 0 Endosome;Perikaryon;Cytoplasm;Cell membrane;Dendrite;Clathrin-coated vesicle NA PE1 14 +NX_O95744 297 32669 9.52 0 NA NA PE5 7 +NX_O95747 527 58022 6.03 0 Cytosol;Cytoplasm NA PE1 3 +NX_O95749 300 34871 5.78 0 Cytoplasm NA PE1 1 +NX_O95750 216 24003 6.55 0 Secreted NA PE1 11 +NX_O95751 146 16968 4.11 0 Nucleolus;Nucleus NA PE1 X +NX_O95754 770 83511 6.5 1 Cell membrane;Nucleus;Centrosome;Endoplasmic reticulum;Membrane NA PE1 2 +NX_O95755 333 36322 8.05 0 Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 22 +NX_O95757 839 94512 5.63 0 Cytosol;Cytoplasm;Nucleus;Centrosome NA PE1 4 +NX_O95758 552 59690 9.13 0 Nucleus NA PE1 9 +NX_O95759 1140 130835 5.32 0 Nucleus NA PE1 2 +NX_O95760 270 30759 8.89 0 Secretory vesicle;Nucleus;Chromosome;Secreted NA PE1 9 +NX_O95772 234 26655 4.75 4 Cytoplasmic vesicle;Late endosome membrane NA PE1 7 +NX_O95777 96 10403 4.34 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 7 +NX_O95780 498 58361 9.22 0 Nucleus;Golgi apparatus NA PE1 19 +NX_O95782 977 107546 6.63 0 Cytoplasmic vesicle;Coated pit;Cell membrane NA PE1 19 +NX_O95785 1651 178674 6.4 0 Nucleoplasm;Nucleus;Midbody NA PE1 19 +NX_O95786 925 106600 6.03 0 Cytosol;Cytoplasm;Cytoskeleton;Ruffle membrane;Tight junction Singleton-Merten syndrome 2 PE1 9 +NX_O95789 1325 148089 8.59 0 Nucleoplasm;Nucleus NA PE1 1 +NX_O95793 577 63182 9.46 0 Cytosol;Cytoplasm;Rough endoplasmic reticulum NA PE1 20 +NX_O95800 540 59359 9.28 7 Cell membrane NA PE1 2 +NX_O95801 387 44679 5.43 0 NA NA PE1 1 +NX_O95803 873 100902 8.21 1 Golgi apparatus membrane NA PE2 4 +NX_O95807 157 17400 5.57 4 Cytosol;Cytoskeleton;Cell membrane;Endoplasmic reticulum;Membrane NA PE1 1 +NX_O95810 425 47173 5.14 0 Cytosol;Caveola;Cell membrane NA PE1 2 +NX_O95813 267 30084 7.7 0 Secreted NA PE1 9 +NX_O95816 211 23772 6.25 0 Nucleoplasm;Cytoplasm NA PE1 6 +NX_O95817 575 61595 6.46 0 Cytosol;Cytoplasm;Nucleus;Cell membrane Cardiomyopathy, dilated 1HH;Myopathy, myofibrillar, 6 PE1 10 +NX_O95819 1239 142101 7.09 0 Cytoplasm NA PE1 2 +NX_O95822 493 55003 9.11 0 Mitochondrion matrix;Cytoplasm;Peroxisome matrix;Peroxisome Malonyl-CoA decarboxylase deficiency PE1 16 +NX_O95825 349 38697 5.49 0 Cytosol;Nucleoplasm NA PE1 21 +NX_O95831 613 66901 9.04 0 Cytoplasm;Perinuclear region;Nucleus;Mitochondrion inner membrane;Mitochondrion intermembrane space Cowchock syndrome;Deafness, X-linked, 5;Combined oxidative phosphorylation deficiency 6 PE1 X +NX_O95832 211 22744 8.41 4 Basolateral cell membrane;Tight junction;Cell membrane Ichthyosis-sclerosing cholangitis neonatal syndrome PE1 3 +NX_O95833 236 26648 5.99 1 Cytoplasm;Nucleus;Membrane NA PE1 9 +NX_O95834 649 70679 5.86 0 Cytoplasmic vesicle;Cytoskeleton;Spindle NA PE1 19 +NX_O95835 1130 126870 8.84 0 Cytoplasmic vesicle;Nucleoplasm;Centrosome NA PE1 6 +NX_O95837 355 41571 5.81 0 NA NA PE1 9 +NX_O95838 553 63001 9.1 7 Cell membrane NA PE2 17 +NX_O95841 491 56720 8.42 0 Secreted NA PE1 1 +NX_O95843 209 23822 4.95 0 Focal adhesion NA PE1 3 +NX_O95847 323 36064 9.15 6 Mitochondrion;Mitochondrion inner membrane NA PE1 6 +NX_O95848 222 24118 4.95 0 Cytoplasm;Cytoskeleton;Nucleolus NA PE1 14 +NX_O95857 204 22147 8.27 4 Nucleus;Membrane NA PE1 7 +NX_O95858 294 33165 5.3 4 Nucleoplasm;Cytosol;Late endosome membrane;Cell membrane NA PE1 10 +NX_O95859 305 35383 5.72 4 Cytoplasmic vesicle;Cytoskeleton;Cell membrane Vitreoretinopathy, exudative 5 PE1 7 +NX_O95861 308 33392 5.46 0 Nucleus speckle NA PE1 1 +NX_O95863 264 29083 8.97 0 Cytosol;Cytoplasm;Nucleus NA PE1 20 +NX_O95864 444 52259 8.86 4 Endoplasmic reticulum membrane NA PE1 11 +NX_O95865 285 29644 5.66 0 Mitochondrion;Cytoplasm;Cytosol;Microtubule organizing center NA PE1 6 +NX_O95866 241 26163 9.68 1 Cell membrane;Endoplasmic reticulum;Golgi apparatus Thrombocytopenia, anemia, and myelofibrosis PE1 6 +NX_O95867 125 13821 8.53 0 Cell membrane NA PE1 6 +NX_O95868 133 13691 6.56 0 Filopodium;Cell membrane NA PE1 6 +NX_O95870 558 63243 8.39 2 Membrane NA PE1 6 +NX_O95872 356 39314 8.36 0 Endoplasmic reticulum NA PE1 6 +NX_O95873 294 31710 5.95 0 Cytosol NA PE1 6 +NX_O95876 746 85084 5.97 0 Cell junction;Cilium axoneme;Cell membrane;Cilium basal body Congenital heart defects, hamartomas of tongue, and polysyndactyly;Bardet-Biedl syndrome 15 PE1 2 +NX_O95881 172 19206 5.25 0 Endoplasmic reticulum lumen NA PE1 1 +NX_O95886 979 106040 8.99 0 Postsynaptic density;Synapse;Cell membrane NA PE1 1 +NX_O95897 454 51386 8.06 0 Synapse;Secreted;Nucleoplasm;Cytoplasm;Nucleus;Membrane NA PE1 19 +NX_O95900 331 36694 9.12 0 Cytosol;Mitochondrion matrix NA PE1 9 +NX_O95905 644 72758 4.75 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 10 +NX_O95907 504 52319 5.53 12 Cytoskeleton;Focal adhesion;Cell membrane NA PE1 22 +NX_O95918 312 34763 8.51 7 Cell membrane NA PE2 6 +NX_O95922 423 48988 8.87 0 Mitochondrion;Cytoskeleton;Nucleolus NA PE1 22 +NX_O95925 133 15284 8.52 0 Cell surface;Secreted NA PE1 20 +NX_O95926 243 28722 8.38 0 Nucleus speckle;Nucleus NA PE1 1 +NX_O95931 251 28341 9.46 0 Nucleoplasm;Cytosol;Nucleus NA PE1 22 +NX_O95932 706 79312 6.85 0 Cytoplasm Spinocerebellar ataxia 35 PE1 20 +NX_O95935 607 64753 8.98 0 Nucleus Congenital anomalies of kidney and urinary tract 2 PE1 6 +NX_O95936 686 72732 6.94 0 Nucleus NA PE1 3 +NX_O95944 276 30677 8.15 1 Cell membrane NA PE1 6 +NX_O95947 436 47045 8.16 0 Nucleus Spondylocostal dysostosis 5 PE1 16 +NX_O95948 504 54303 9.65 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 18 +NX_O95954 541 58927 5.58 0 Centriole;Cytosol;Cell membrane;Golgi apparatus Glutamate formiminotransferase deficiency PE1 21 +NX_O95965 494 53921 5.39 0 Secreted NA PE1 13 +NX_O95967 443 49405 4.79 0 Secreted Cutis laxa, autosomal recessive, 1B PE1 11 +NX_O95968 90 9898 9.41 0 Secreted NA PE1 11 +NX_O95969 90 9925 8.58 0 Secreted NA PE1 11 +NX_O95970 557 63818 8.5 0 Synapse;Secreted Epilepsy, familial temporal lobe, 1 PE1 10 +NX_O95971 181 19810 6.94 0 Cell membrane NA PE1 1 +NX_O95972 392 45055 9.28 0 Secreted Premature ovarian failure 4;Ovarian dysgenesis 2 PE1 X +NX_O95976 241 27013 8.93 1 Membrane NA PE1 16 +NX_O95977 384 41623 10.04 7 Mitochondrion;Cell membrane NA PE1 19 +NX_O95980 971 106457 6.35 0 Cell membrane NA PE1 9 +NX_O95983 291 32844 5.22 0 Nucleoplasm;Nucleus;Chromosome NA PE1 19 +NX_O95985 862 96662 8.47 0 Cytoplasmic vesicle NA PE1 22 +NX_O95988 128 14846 6.84 0 Cytosol NA PE1 14 +NX_O95989 172 19471 5.99 0 Cytoplasm NA PE1 6 +NX_O95990 144 17455 9.71 0 Nucleus speckle;Synapse;Stress fiber;Focal adhesion;Nucleus;Ruffle membrane NA PE1 3 +NX_O95992 272 31745 6.77 3 Endoplasmic reticulum membrane NA PE1 10 +NX_O95994 175 19979 9.03 0 Cytosol;Endoplasmic reticulum;Secreted NA PE1 7 +NX_O95995 478 56356 7.72 0 Flagellum axoneme;Flagellum;Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Cilium axoneme;Cytoskeleton;Cilium;Cilium basal body Ciliary dyskinesia, primary, 33 PE1 16 +NX_O95996 2303 243949 9.08 0 Golgi apparatus;Cytosol;Cytoplasm;Perinuclear region;Cytoskeleton;Midbody Sotos syndrome 3 PE1 19 +NX_O95997 202 22024 6.18 0 Cytoplasm;Nucleus NA PE1 5 +NX_O95998 194 21099 6.99 0 Endoplasmic reticulum;Secreted NA PE1 11 +NX_O95999 233 26252 5.57 0 Nucleoplasm;Perinuclear region;Membrane raft Lymphoma, mucosa-associated lymphoid type;Immunodeficiency 37 PE1 1 +NX_O96000 172 20777 8.72 0 Mitochondrion inner membrane NA PE1 16 +NX_O96001 155 17866 8.48 0 Nucleoplasm NA PE1 7 +NX_O96002 111 13452 9.61 2 Membrane NA PE5 X +NX_O96004 215 23627 9.69 0 Nucleoplasm;Nucleolus;Nucleus;Nucleus membrane NA PE1 5 +NX_O96005 669 76097 5.88 5 Nucleus membrane;Golgi apparatus;Cell membrane;Microtubule organizing center;Endoplasmic reticulum;Membrane NA PE1 19 +NX_O96006 694 78156 5.79 0 Nucleus NA PE1 X +NX_O96007 188 20944 5.35 0 Cytosol;Nucleus Molybdenum cofactor deficiency, complementation group B PE1 5 +NX_O96008 361 37893 6.79 0 Mitochondrion;Cytosol;Mitochondrion outer membrane NA PE1 19 +NX_O96009 420 45387 6.15 0 Secreted NA PE1 19 +NX_O96011 259 28431 9.91 1 Peroxisome membrane Peroxisome biogenesis disorder 14B PE1 1 +NX_O96013 591 64072 9.76 0 Cytoplasm;Cell junction;Cell membrane NA PE1 19 +NX_O96014 354 39179 9.05 0 Cytosol;Centrosome;Extracellular matrix NA PE1 11 +NX_O96015 105 12009 5.36 0 Cytosol;Nucleolus;Nucleus;Centrosome;Cilium axoneme Mirror movements 3 PE1 22 +NX_O96017 543 60915 5.65 0 Nucleoplasm;PML body;Nucleus;Golgi apparatus Osteogenic sarcoma;Prostate cancer;Breast cancer;Li-Fraumeni syndrome 2 PE1 22 +NX_O96018 575 61454 4.83 0 Cytoplasmic vesicle;Perinuclear region NA PE1 19 +NX_O96019 429 47461 5.39 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA PE1 3 +NX_O96020 404 46757 7.95 0 Nucleus NA PE1 8 +NX_O96024 378 41537 8.63 1 Golgi apparatus membrane NA PE1 6 +NX_O96028 1365 152258 9 0 Cytoplasm;Nucleus;Chromosome NA PE1 4 +NX_O96033 88 9755 4.67 0 Cytosol Molybdenum cofactor deficiency, complementation group B PE1 5 +NX_O97980 41 4965 4.95 0 NA NA PE1 5 +NX_P00156 380 42718 7.83 8 Mitochondrion;Mitochondrion inner membrane Cardiomyopathy, infantile histiocytoid;Leber hereditary optic neuropathy PE1 MT +NX_P00167 134 15330 4.88 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cytoplasm;Cytosol;Microsome membrane Methemoglobinemia and ambiguous genitalia PE1 18 +NX_P00325 375 39855 8.63 0 Cytoplasm NA PE1 4 +NX_P00326 375 39868 8.63 0 Cytoplasm NA PE1 4 +NX_P00338 332 36689 8.44 0 Cytosol;Cytoplasm;Cytoplasmic vesicle Glycogen storage disease 11 PE1 11 +NX_P00352 501 54862 6.3 0 Cytosol NA PE1 9 +NX_P00367 558 61398 7.66 0 Mitochondrion matrix Familial hyperinsulinemic hypoglycemia 6 PE1 10 +NX_P00374 187 21453 6.85 0 Mitochondrion;Cytoplasm Megaloblastic anemia due to dihydrofolate reductase deficiency PE1 5 +NX_P00387 301 34235 7.18 0 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum;Mitochondrion outer membrane Methemoglobinemia CYB5R3-related PE1 22 +NX_P00390 522 56257 8.74 0 Mitochondrion;Cytoplasm;Cytosol;Cell membrane NA PE1 8 +NX_P00395 513 57041 6.19 12 Mitochondrion;Mitochondrion inner membrane Leber hereditary optic neuropathy;Deafness, sensorineural, mitochondrial;Colorectal cancer;Mitochondrial complex IV deficiency;Recurrent myoglobinuria mitochondrial PE1 MT +NX_P00403 227 25565 4.67 2 Mitochondrion inner membrane Mitochondrial complex IV deficiency PE1 MT +NX_P00414 261 29951 6.78 7 Nucleoplasm;Mitochondrion inner membrane Leber hereditary optic neuropathy;Mitochondrial complex IV deficiency;Recurrent myoglobinuria mitochondrial PE1 MT +NX_P00439 452 51862 6.15 0 Cytoplasmic vesicle;Endoplasmic reticulum Phenylketonuria;Non-phenylketonuria hyperphenylalaninemia;Hyperphenylalaninemia PE1 12 +NX_P00441 154 15936 5.7 0 Mitochondrion;Cytoplasm;Nucleus;Cytosol;Cell membrane Amyotrophic lateral sclerosis 1 PE1 21 +NX_P00450 1065 122205 5.44 0 Secreted Aceruloplasminemia PE1 3 +NX_P00451 2351 267009 6.95 0 Extracellular space Hemophilia A PE1 X +NX_P00480 354 39935 8.75 0 Mitochondrion matrix;Mitochondrion Ornithine carbamoyltransferase deficiency PE1 X +NX_P00488 732 83267 5.75 0 Cytoplasm;Secreted Factor XIII subunit A deficiency PE1 6 +NX_P00491 289 32118 6.45 0 Cytosol;Cytoplasm;Cytoskeleton Purine nucleoside phosphorylase deficiency PE1 14 +NX_P00492 218 24579 6.21 0 Cytosol;Cytoplasm;Nucleus Gout HPRT-related;Lesch-Nyhan syndrome PE1 X +NX_P00505 430 47518 9.14 0 Mitochondrion matrix;Cell membrane NA PE1 16 +NX_P00519 1130 122873 8.84 0 Nucleoplasm;Mitochondrion;Cytoskeleton;Nucleus;Nucleus membrane Leukemia, chronic myeloid;Congenital heart defects and skeletal malformations syndrome PE1 9 +NX_P00533 1210 134277 6.26 1 Endoplasmic reticulum membrane;Endosome;Nucleus membrane;Secreted;Cell membrane;Endosome membrane;Golgi apparatus membrane;Nucleus Lung cancer;Inflammatory skin and bowel disease, neonatal, 2 PE1 7 +NX_P00540 346 37820 9.15 0 NA NA PE1 8 +NX_P00558 417 44615 8.3 0 Cytoplasm Phosphoglycerate kinase 1 deficiency PE1 X +NX_P00568 194 21635 8.73 0 Cytosol;Cytoplasm Hemolytic anemia due to adenylate kinase deficiency PE1 9 +NX_P00709 142 16225 4.83 0 Secreted NA PE1 12 +NX_P00734 622 70037 5.64 0 Extracellular space Factor II deficiency;Ischemic stroke;Pregnancy loss, recurrent, 2;Thrombophilia due to thrombin defect PE1 11 +NX_P00736 705 80119 5.82 0 Nucleoplasm;Cytosol;Secreted Ehlers-Danlos syndrome, periodontal type, 1 PE1 12 +NX_P00738 406 45205 6.13 0 Secreted Anhaptoglobinemia PE1 16 +NX_P00739 348 39030 6.63 0 Secreted NA PE1 16 +NX_P00740 461 51778 5.34 0 Secreted Thrombophilia, X-linked, due to factor IX defect;Hemophilia B PE1 X +NX_P00742 488 54732 5.68 0 Secreted Factor X deficiency PE1 13 +NX_P00746 253 27033 7.65 0 Cell membrane;Secreted Complement factor D deficiency PE1 19 +NX_P00747 810 90569 7.04 0 Secreted Plasminogen deficiency PE1 6 +NX_P00748 615 67792 8.04 0 Secreted Factor XII deficiency;Hereditary angioedema 3 PE1 5 +NX_P00749 431 48507 8.78 0 Secreted Quebec platelet disorder PE1 10 +NX_P00750 562 62917 8.14 0 Extracellular space;Cytoskeleton NA PE1 8 +NX_P00751 764 85533 6.67 0 Cytoplasmic vesicle;Cell junction;Endoplasmic reticulum;Secreted Hemolytic uremic syndrome atypical 4;Complement factor B deficiency PE1 6 +NX_P00797 406 45057 6.61 0 Secreted;Membrane Renal tubular dysgenesis;Familial juvenile hyperuricemic nephropathy 2 PE1 1 +NX_P00813 363 40764 5.63 0 Cytoplasmic vesicle lumen;Lysosome;Cytosol;Cytoplasm;Cell membrane;Cell junction Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency PE1 20 +NX_P00846 226 24817 10.09 6 Mitochondrion inner membrane Ataxia and polyneuropathy, adult-onset;Leber hereditary optic neuropathy;Myopathy, lactic acidosis, and sideroblastic anemia 3;Mitochondrial complex V deficiency, mitochondrial 1;Mitochondrial infantile bilateral striatal necrosis;Leigh syndrome;Neuropathy, ataxia, and retinitis pigmentosa;Cardiomyopathy, infantile hypertrophic PE1 MT +NX_P00915 261 28870 6.59 0 Cytoplasm NA PE1 8 +NX_P00918 260 29246 6.87 0 Cytoplasm;Cell membrane Osteopetrosis, autosomal recessive 3 PE1 8 +NX_P00966 412 46530 8.08 0 Nucleoplasm;Cytosol Citrullinemia 1 PE1 9 +NX_P00973 400 46029 8.51 0 Secreted;Cytosol;Cytoplasm;Microsome;Endoplasmic reticulum;Nucleus;Mitochondrion NA PE1 12 +NX_P00995 79 8507 7.54 0 Secreted Pancreatitis, hereditary;Tropical calcific pancreatitis PE1 5 +NX_P01008 464 52602 6.32 0 Extracellular space Antithrombin III deficiency PE1 1 +NX_P01009 418 46737 5.37 0 Cytoplasmic vesicle;Extracellular matrix;Endoplasmic reticulum;Secreted Alpha-1-antitrypsin deficiency PE1 14 +NX_P01011 423 47651 5.33 0 Secreted NA PE1 14 +NX_P01019 485 53154 5.87 0 Secreted Essential hypertension;Renal tubular dysgenesis PE1 1 +NX_P01023 1474 163291 6.03 0 Secreted NA PE1 12 +NX_P01024 1663 187148 6.02 0 Secreted Macular degeneration, age-related, 9;Complement component 3 deficiency;Hemolytic uremic syndrome atypical 5 PE1 19 +NX_P01031 1676 188305 6.11 0 Secreted Complement component 5 deficiency PE1 9 +NX_P01033 207 23171 8.46 0 Golgi apparatus;Secreted NA PE1 X +NX_P01034 146 15799 9 0 Cytoplasmic vesicle;Golgi apparatus;Secreted Amyloidosis 6;Macular degeneration, age-related, 11 PE1 20 +NX_P01036 141 16214 4.95 0 Secreted NA PE1 20 +NX_P01037 141 16388 6.73 0 Secreted NA PE1 20 +NX_P01040 98 11006 5.38 0 Cytosol;Cytoplasm;Nucleus Peeling skin syndrome 4 PE1 3 +NX_P01042 644 71957 6.34 0 Extracellular space High molecular weight kininogen deficiency PE1 3 +NX_P01100 380 40695 4.77 0 Cytosol;Nucleoplasm;Nucleus;Endoplasmic reticulum NA PE1 14 +NX_P01106 439 48804 5.33 0 Nucleoplasm;Nucleolus Burkitt lymphoma PE1 8 +NX_P01111 189 21229 5.01 0 Golgi apparatus membrane;Cell membrane RAS-associated autoimmune leukoproliferative disorder;Keratinocytic non-epidermolytic nevus;Melanocytic nevus syndrome, congenital;Noonan syndrome 6;Leukemia, juvenile myelomonocytic;Thyroid cancer, non-medullary, 2;Melanosis, neurocutaneous PE1 1 +NX_P01112 189 21298 5.16 0 Golgi apparatus;Cytoplasm;Cell membrane;Perinuclear region;Golgi apparatus membrane;Nucleus Bladder cancer;Thyroid cancer, non-medullary, 2;Schimmelpenning-Feuerstein-Mims syndrome;Congenital myopathy with excess of muscle spindles;Costello syndrome PE1 11 +NX_P01116 189 21656 6.33 0 Cytosol;Cell membrane Leukemia, acute myelogenous;Cardiofaciocutaneous syndrome 2;Leukemia, juvenile myelomonocytic;Noonan syndrome 3;Gastric cancer PE1 12 +NX_P01127 241 27283 9.39 0 Cytoplasmic vesicle;Secreted Basal ganglia calcification, idiopathic, 5 PE1 22 +NX_P01130 860 95376 4.86 1 Late endosome;Golgi apparatus;Lysosome;Clathrin-coated pit;Cell membrane;Early endosome Familial hypercholesterolemia PE1 19 +NX_P01133 1207 133994 5.53 1 Membrane Hypomagnesemia 4 PE1 4 +NX_P01135 160 17006 7.51 1 Cytoplasmic vesicle;Extracellular space;Cell membrane NA PE1 2 +NX_P01137 390 44341 8.83 0 Cytosol;Extracellular matrix;Secreted Camurati-Engelmann disease PE1 19 +NX_P01138 241 26959 9.94 0 Secreted Neuropathy, hereditary sensory and autonomic, 5 PE1 1 +NX_P01148 92 10380 6.1 0 Secreted Hypogonadotropic hypogonadism 12 with or without anosmia PE1 8 +NX_P01160 153 16708 6.59 0 Secreted Atrial fibrillation, familial, 6;Atrial standstill 2 PE1 1 +NX_P01178 125 12722 5.72 0 Secreted NA PE1 20 +NX_P01185 164 17325 5.2 0 Secreted Diabetes insipidus, neurohypophyseal PE1 20 +NX_P01189 267 29424 7.57 0 Secreted Obesity;Obesity, early-onset, with adrenal insufficiency and red hair PE1 2 +NX_P01210 267 30787 5.44 0 Secreted NA PE1 8 +NX_P01213 254 28385 6.07 0 Secreted Spinocerebellar ataxia 23 PE1 20 +NX_P01215 116 13075 8.54 0 Secreted NA PE1 6 +NX_P01222 138 15639 7.92 0 Secreted NA PE1 1 +NX_P01225 129 14700 6.77 0 Secreted Hypogonadotropic hypogonadism 24 without anosmia PE1 11 +NX_P01229 141 15345 8 0 Secreted Hypogonadotropic hypogonadism 23 without anosmia PE1 19 +NX_P01236 227 25876 6.5 0 Cytosol;Secreted NA PE1 6 +NX_P01241 217 24847 5.29 0 Secreted Growth hormone deficiency, isolated, 1A;Growth hormone deficiency, isolated, 1B;Kowarski syndrome;Growth hormone deficiency, isolated, 2 PE1 17 +NX_P01242 217 25000 7.59 0 Secreted NA PE1 17 +NX_P01258 141 15467 5.77 0 Secreted NA PE1 11 +NX_P01266 2768 304790 5.4 0 Secreted Autoimmune thyroid disease 3;Thyroid dyshormonogenesis 3 PE1 8 +NX_P01270 115 12861 9.72 0 Secreted Hypoparathyroidism, familial isolated PE1 11 +NX_P01275 180 20909 5.85 0 Cytoplasmic vesicle;Endoplasmic reticulum;Secreted NA PE1 2 +NX_P01282 170 19169 6.15 0 Endoplasmic reticulum;Secreted NA PE1 6 +NX_P01286 108 12447 10.54 0 Secreted NA PE1 20 +NX_P01298 95 10445 6.71 0 Secreted NA PE1 17 +NX_P01303 97 10851 6.57 0 Golgi apparatus;Secreted NA PE1 7 +NX_P01308 110 11981 5.22 0 Secreted Hyperproinsulinemia;Diabetes mellitus, insulin-dependent, 2;Diabetes mellitus, permanent neonatal;Maturity-onset diabetes of the young 10 PE1 11 +NX_P01344 180 20140 9.5 0 Nucleoplasm;Cytoplasmic vesicle;Secreted Silver-Russell syndrome;Growth restriction, severe, with distinctive facies PE1 11 +NX_P01350 101 11394 5.08 0 Secreted NA PE1 17 +NX_P01374 205 22297 9.1 0 Secreted;Membrane Psoriatic arthritis PE1 6 +NX_P01375 233 25644 6.44 1 Membrane;Cell membrane;Secreted Psoriatic arthritis PE1 6 +NX_P01562 189 21725 5.32 0 Secreted NA PE1 9 +NX_P01563 188 21550 6.32 0 Secreted NA PE1 9 +NX_P01566 189 21835 5.97 0 Secreted NA PE1 9 +NX_P01567 189 22107 6.44 0 Secreted NA PE1 9 +NX_P01568 189 21741 6.33 0 Secreted NA PE1 9 +NX_P01569 189 21942 5.68 0 Secreted NA PE1 9 +NX_P01570 189 22063 6.83 0 Secreted NA PE1 9 +NX_P01571 189 21728 5.68 0 Secreted NA PE1 9 +NX_P01574 187 22294 8.93 0 Secreted NA PE1 9 +NX_P01579 166 19348 9.5 0 Secreted Aplastic anemia PE1 12 +NX_P01583 271 30607 5.04 0 Secreted NA PE1 2 +NX_P01584 269 30748 4.7 0 Cytosol;Lysosome;Exosome;Secreted NA PE1 2 +NX_P01588 193 21307 8.3 0 Secreted Diamond-Blackfan anemia-like;Erythrocytosis, familial, 5;Microvascular complications of diabetes 2 PE1 7 +NX_P01589 272 30819 6.11 1 Membrane Immunodeficiency 41 with lymphoproliferation and autoimmunity;Diabetes mellitus, insulin-dependent, 10 PE1 10 +NX_P01591 159 18099 5.12 0 Secreted NA PE1 4 +NX_P01593 117 12848 4.53 0 Cell membrane;Secreted NA PE1 2 +NX_P01594 117 12848 4.53 0 Cell membrane;Secreted NA PE1 2 +NX_P01597 117 12737 8.91 0 Cell membrane;Secreted NA PE1 2 +NX_P01599 117 12779 8.93 0 Cell membrane;Secreted NA PE1 2 +NX_P01601 117 12730 7.62 0 Cell membrane;Secreted NA PE1 2 +NX_P01602 117 12782 8.49 0 Cell membrane;Secreted NA PE1 2 +NX_P01611 117 12620 7.69 0 Cell membrane;Secreted NA PE1 2 +NX_P01614 121 13310 4.43 0 Cell membrane;Secreted NA PE1 2 +NX_P01615 120 12957 5.61 0 Cell membrane;Secreted NA PE1 2 +NX_P01619 116 12557 4.85 0 Cell membrane;Secreted NA PE1 2 +NX_P01624 115 12496 5.14 0 Cell membrane;Secreted NA PE1 2 +NX_P01699 117 12201 4.94 0 Cell membrane;Secreted NA PE1 22 +NX_P01700 117 12284 5.55 0 Cell membrane;Secreted NA PE1 22 +NX_P01701 117 12249 6.5 0 Cell membrane;Secreted NA PE1 22 +NX_P01703 118 12302 5.39 0 Cell membrane;Secreted NA PE1 22 +NX_P01704 120 12597 6 0 Cell membrane;Secreted NA PE1 22 +NX_P01705 113 11893 5.59 0 Cell membrane;Secreted NA PE1 22 +NX_P01706 119 12644 6.69 0 Cell membrane;Secreted NA PE1 22 +NX_P01709 118 12382 5.59 0 Cell membrane;Secreted NA PE1 22 +NX_P01714 112 12042 4.76 0 Cell membrane;Secreted NA PE1 22 +NX_P01715 115 12296 4.75 0 Cell membrane;Secreted NA PE1 22 +NX_P01717 112 12011 4.37 0 Cell membrane;Secreted NA PE1 22 +NX_P01718 113 12165 4.89 0 Cell membrane;Secreted NA PE1 22 +NX_P01721 117 12566 4.59 0 Cell membrane;Secreted NA PE1 22 +NX_P01730 458 51111 9.6 1 Cell membrane NA PE1 12 +NX_P01732 235 25729 9.64 1 Cell membrane;Secreted CD8 deficiency, familial PE1 2 +NX_P01733 115 12997 5.84 0 Cell membrane NA PE1 7 +NX_P01737 113 12377 6.81 0 Cell membrane NA PE2 14 +NX_P01742 117 12659 9.26 0 Cell membrane;Secreted NA PE1 14 +NX_P01743 117 12933 9.1 0 Cell membrane;Secreted NA PE1 14 +NX_P01762 117 12909 8.82 0 Cell membrane;Secreted NA PE1 14 +NX_P01763 117 12813 5.31 0 Cell membrane;Secreted NA PE1 14 +NX_P01764 117 12582 8.49 0 Cell membrane;Secreted NA PE1 14 +NX_P01766 116 12506 6.54 0 Cell membrane;Secreted NA PE1 14 +NX_P01767 116 12770 8.49 0 Cell membrane;Secreted NA PE1 14 +NX_P01768 117 12947 9.1 0 Cell membrane;Secreted NA PE1 14 +NX_P01772 117 13074 9.12 0 Cell membrane;Secreted NA PE1 14 +NX_P01780 117 12943 6.21 0 Cell membrane;Secreted NA PE1 14 +NX_P01782 118 12945 6.55 0 Cell membrane;Secreted NA PE1 14 +NX_P01814 119 13260 6.1 0 Cell membrane;Secreted NA PE1 14 +NX_P01817 119 13231 8.49 0 Cell membrane;Secreted NA PE1 14 +NX_P01824 125 13917 9.35 0 Cell membrane;Secreted NA PE1 14 +NX_P01825 116 12936 9.36 0 Cell membrane;Secreted NA PE1 14 +NX_P01833 764 83284 5.59 1 Cell membrane;Secreted NA PE1 1 +NX_P01834 107 11765 6.11 0 Cell membrane;Secreted Immunoglobulin kappa light chain deficiency PE1 2 +NX_P01848 140 15717 4.58 1 Cell membrane Immunodeficiency 7 PE1 14 +NX_P01850 176 19769 5.8 1 Cell membrane NA PE1 7 +NX_P01854 428 47019 8.39 0 Cell membrane;Secreted NA PE1 14 +NX_P01857 330 36106 8.46 0 Cell membrane;Secreted Multiple myeloma PE1 14 +NX_P01859 326 35901 7.66 0 Cell membrane;Secreted NA PE1 14 +NX_P01860 377 41287 8.23 0 Cell membrane;Secreted NA PE1 14 +NX_P01861 327 35941 7.18 0 Cell membrane;Secreted NA PE1 14 +NX_P01871 453 49440 6.35 0 Cell membrane;Secreted Agammaglobulinemia 1, autosomal recessive PE1 14 +NX_P01876 353 37655 6.08 0 Cell membrane;Secreted NA PE1 14 +NX_P01877 340 36591 5.86 0 Cell membrane;Secreted NA PE1 14 +NX_P01880 384 42353 8.38 0 Cell membrane;Secreted NA PE1 14 +NX_P01889 362 40460 5.57 1 Membrane NA PE1 6 +NX_P01891 365 40909 6.22 1 Membrane NA PE1 6 +NX_P01892 365 40922 6.5 1 Membrane NA PE1 6 +NX_P01893 362 40892 5.91 1 Cell membrane NA PE5 6 +NX_P01903 254 28607 4.91 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA PE1 6 +NX_P01906 255 28033 4.78 1 Endosome membrane;Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane NA PE1 6 +NX_P01909 254 27805 5.44 1 Endosome membrane;Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane NA PE1 6 +NX_P01911 266 29966 7.64 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA PE1 6 +NX_P01912 266 30120 8.21 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA PE1 6 +NX_P01920 261 29991 6.76 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Golgi apparatus;Cytoplasm;Cell membrane;Endosome membrane NA PE1 6 +NX_P02008 142 15637 7.94 0 NA NA PE1 16 +NX_P02042 147 16055 7.84 0 NA NA PE1 11 +NX_P02100 147 16203 8.67 0 NA NA PE1 11 +NX_P02144 154 17184 7.14 0 NA NA PE1 22 +NX_P02452 1464 138941 5.6 0 Cytosol;Cytoplasmic vesicle;Extracellular matrix Ehlers-Danlos syndrome, classic type, 1;Caffey disease;Osteogenesis imperfecta 4;Osteogenesis imperfecta 3;Osteogenesis imperfecta 2;Osteogenesis imperfecta 1;Ehlers-Danlos syndrome, arthrochalasia type, 1;Osteoporosis PE1 17 +NX_P02458 1487 141785 6.58 0 Nucleoplasm;Extracellular matrix Legg-Calve-Perthes disease;Spondyloepiphyseal dysplasia congenital type;Multiple epiphyseal dysplasia with myopia and conductive deafness;Kniest dysplasia;Avascular necrosis of femoral head, primary, 1;Platyspondylic lethal skeletal dysplasia Torrance type;Osteoarthritis with mild chondrodysplasia;Achondrogenesis 2;Spondyloperipheral dysplasia;Rhegmatogenous retinal detachment autosomal dominant;Czech dysplasia;Spondyloepiphyseal dysplasia, Stanescu type;Stickler syndrome 1;Spondyloepimetaphyseal dysplasia, Strudwick type;Stickler syndrome 1 non-syndromic ocular PE1 12 +NX_P02461 1466 138564 6.21 0 Extracellular matrix Ehlers-Danlos syndrome, vascular type PE1 2 +NX_P02462 1669 160611 8.55 0 Nucleoplasm;Cytosol;Basement membrane Porencephaly 1;Hereditary angiopathy with nephropathy aneurysms and muscle cramps;Intracerebral hemorrhage;Tortuosity of retinal arteries;Brain small vessel disease with or without ocular anomalies;Schizencephaly PE1 13 +NX_P02489 173 19909 5.77 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Cataract 9, multiple types PE1 21 +NX_P02511 175 20159 6.76 0 Cytosol;Cytoplasm;Nucleus;Cell membrane Cataract 16, multiple types;Cardiomyopathy, dilated 1II;Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related;Myopathy, myofibrillar, 2 PE1 11 +NX_P02533 472 51561 5.09 0 Cytoplasm;Nucleus Naegeli-Franceschetti-Jadassohn syndrome;Epidermolysis bullosa simplex, Dowling-Meara type;Epidermolysis bullosa simplex, autosomal recessive 1;Epidermolysis bullosa simplex, Weber-Cockayne type;Dermatopathia pigmentosa reticularis;Epidermolysis bullosa simplex, Koebner type PE1 17 +NX_P02538 564 60045 8.09 0 NA Pachyonychia congenita 3 PE1 12 +NX_P02545 664 74139 6.57 0 Nucleoplasm;Nucleus speckle;Nucleus;Nucleus envelope;Nucleus lamina Lipodystrophy, familial partial, 2;Lethal tight skin contracture syndrome;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Mandibuloacral dysplasia with type A lipodystrophy;Hutchinson-Gilford progeria syndrome;Muscular dystrophy congenital LMNA-related;Limb-girdle muscular dystrophy 1B;Charcot-Marie-Tooth disease 2B1;Cardiomyopathy, dilated 1A;Heart-hand syndrome Slovenian type;Cardiomyopathy, dilated, with hypergonadotropic hypogonadism;Emery-Dreifuss muscular dystrophy 3, autosomal recessive PE1 1 +NX_P02549 2419 280014 4.95 0 Cytoskeleton;Cell cortex Spherocytosis 3;Elliptocytosis 2;Hereditary pyropoikilocytosis PE1 1 +NX_P02585 160 18122 4.06 0 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm NA PE1 20 +NX_P02647 267 30778 5.56 0 Cytosol;Cytoplasmic vesicle;Secreted Amyloidosis 8;High density lipoprotein deficiency 2;High density lipoprotein deficiency 1 PE1 11 +NX_P02649 317 36154 5.65 0 Cytoplasmic vesicle;Extracellular space;Extracellular matrix;Secreted Alzheimer disease 2;Hyperlipoproteinemia 3;Lipoprotein glomerulopathy;Familial hypercholesterolemia;Sea-blue histiocyte disease PE1 19 +NX_P02652 100 11175 6.27 0 Secreted NA PE1 1 +NX_P02654 83 9332 8.01 0 Endoplasmic reticulum;Secreted NA PE1 19 +NX_P02655 101 11284 4.72 0 Secreted Hyperlipoproteinemia 1B PE1 19 +NX_P02656 99 10852 5.23 0 Nucleoplasm;Nucleolus;Cell junction;Secreted Hyperalphalipoproteinemia 2 PE1 11 +NX_P02671 866 94973 5.7 0 Secreted Congenital afibrinogenemia;Dysfibrinogenemia, congenital;Amyloidosis 8 PE1 4 +NX_P02675 491 55928 8.54 0 Endoplasmic reticulum;Secreted Congenital afibrinogenemia;Dysfibrinogenemia, congenital PE1 4 +NX_P02679 453 51512 5.37 0 Secreted Congenital afibrinogenemia;Dysfibrinogenemia, congenital PE1 4 +NX_P02686 304 33117 9.79 0 Myelin membrane;Nucleus;Cell membrane NA PE1 18 +NX_P02689 132 14909 9.84 0 Cytoplasm NA PE1 8 +NX_P02708 482 54546 5.78 4 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 1A, slow-channel;Multiple pterygium syndrome, lethal type;Myasthenic syndrome, congenital, 1B, fast-channel PE1 2 +NX_P02724 150 16331 5.29 1 Cell membrane NA PE1 4 +NX_P02730 911 101792 5.08 12 Basolateral cell membrane;Cell membrane Renal tubular acidosis, distal, with normal red cell morphology;Renal tubular acidosis, distal, with hemolytic anemia;Cryohydrocytosis;Renal tubular acidosis, distal, autosomal dominant;Spherocytosis 4;Ovalocytosis, Southeast Asian PE1 17 +NX_P02741 224 25039 5.45 0 Secreted NA PE1 1 +NX_P02743 223 25387 6.1 0 Secreted NA PE1 1 +NX_P02745 245 26017 9.26 0 Cytosol;Golgi apparatus;Secreted Complement component C1q deficiency PE1 1 +NX_P02746 253 26722 8.83 0 Secreted Complement component C1q deficiency PE1 1 +NX_P02747 245 25774 8.61 0 Cytoplasmic vesicle;Secreted Complement component C1q deficiency PE1 1 +NX_P02748 559 63173 5.43 2 Cytosol;Target cell membrane;Cell membrane;Secreted Macular degeneration, age-related, 15;Complement component 9 deficiency PE1 5 +NX_P02749 345 38298 8.34 0 Golgi apparatus;Secreted NA PE1 17 +NX_P02750 347 38178 6.45 0 Cytoplasmic vesicle;Secreted NA PE1 19 +NX_P02751 2386 262625 5.46 0 Extracellular matrix Glomerulopathy with fibronectin deposits 2;Spondylometaphyseal dysplasia, corner fracture type PE1 2 +NX_P02753 201 23010 5.76 0 Secreted Microphthalmia, isolated, with coloboma, 10;Retinal dystrophy, iris coloboma, and comedogenic acne syndrome PE1 10 +NX_P02760 352 38999 5.95 0 Secreted NA PE1 9 +NX_P02763 201 23512 4.93 0 Secreted NA PE1 9 +NX_P02765 367 39341 5.43 0 Golgi apparatus;Secreted Alopecia-mental retardation syndrome 1 PE1 3 +NX_P02766 147 15887 5.52 0 Cytoplasm;Golgi apparatus;Secreted Amyloidosis, transthyretin-related;Carpal tunnel syndrome 1;Hyperthyroxinemia, dystransthyretinemic PE1 18 +NX_P02768 609 69367 5.92 0 Endoplasmic reticulum;Golgi apparatus;Secreted Hyperthyroxinemia, familial dysalbuminemic;Analbuminemia PE1 4 +NX_P02771 609 68678 5.48 0 Cytosol;Secreted Alpha-fetoprotein, hereditary persistence;Alpha-fetoprotein deficiency PE1 4 +NX_P02774 474 52918 5.32 0 Secreted NA PE1 4 +NX_P02775 128 13894 9.04 0 Secreted NA PE1 4 +NX_P02776 101 10845 8.93 0 Secreted NA PE1 4 +NX_P02778 98 10881 9.93 0 Secreted NA PE1 4 +NX_P02786 760 84871 6.18 1 Endosome;Lysosome;Melanosome;Cell membrane;Secreted Immunodeficiency 46 PE1 3 +NX_P02787 698 77064 6.81 0 Mitochondrion;Secreted Atransferrinemia PE1 3 +NX_P02788 710 78182 8.5 0 Cytoplasm;Cytoplasmic granule;Nucleus;Secreted NA PE1 3 +NX_P02790 462 51676 6.55 0 Secreted NA PE1 11 +NX_P02792 175 20020 5.51 0 Cytosol L-ferritin deficiency;Hyperferritinemia with or without cataract;Neurodegeneration with brain iron accumulation 3 PE1 19 +NX_P02794 183 21226 5.31 0 Cytoskeleton Hemochromatosis 5 PE1 11 +NX_P02795 61 6042 8.23 0 Nucleolus;Nucleus NA PE1 16 +NX_P02808 62 7304 8.01 0 Secreted NA PE1 4 +NX_P02810 166 17016 4.63 0 Secreted NA PE1 12 +NX_P02812 416 40799 11.63 0 Secreted NA PE1 12 +NX_P02814 79 8188 9.62 0 Secreted NA PE1 4 +NX_P02818 100 10963 6.56 0 Secreted NA PE1 1 +NX_P03372 595 66216 8.3 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Golgi apparatus;Cell membrane Estrogen resistance PE1 6 +NX_P03886 318 35661 6.11 8 Mitochondrion inner membrane Mitochondrial complex I deficiency;Diabetes mellitus, non-insulin-dependent;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Alzheimer disease mitochondrial;Leber hereditary optic neuropathy PE1 MT +NX_P03891 347 38961 9.84 10 Mitochondrion inner membrane Alzheimer disease mitochondrial;Leber hereditary optic neuropathy PE1 MT +NX_P03897 115 13186 4.45 3 Cytosol;Mitochondrion membrane Mitochondrial complex I deficiency;Leigh syndrome PE1 MT +NX_P03901 98 10741 5.73 3 Mitochondrion;Mitochondrion membrane Leber hereditary optic neuropathy PE1 MT +NX_P03905 459 51581 9.4 11 Mitochondrion membrane Leber hereditary optic neuropathy with dystonia;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Leber hereditary optic neuropathy PE1 MT +NX_P03915 603 67027 9.14 15 Mitochondrion inner membrane Mitochondrial complex I deficiency;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Leigh syndrome;Leber hereditary optic neuropathy PE1 MT +NX_P03923 174 18622 4.18 6 Mitochondrion membrane Leber hereditary optic neuropathy with dystonia;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Leber hereditary optic neuropathy;Mitochondrial complex I deficiency PE1 MT +NX_P03928 68 7992 9.92 1 Mitochondrion membrane Mitochondrial complex V deficiency, mitochondrial 2;Cardiomyopathy, infantile hypertrophic PE1 MT +NX_P03950 147 16550 9.73 0 Secretory vesicle lumen;Nucleolus;Nucleus;Secreted Amyotrophic lateral sclerosis 9 PE1 14 +NX_P03951 625 70109 8.47 0 Cytoplasmic vesicle;Secreted Factor XI deficiency PE1 4 +NX_P03952 638 71370 8.6 0 Secreted Prekallikrein deficiency PE1 4 +NX_P03956 469 54007 6.47 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 11 +NX_P03971 560 59195 7.04 0 Cytoplasmic vesicle;Secreted Persistent Muellerian duct syndrome 1 PE1 19 +NX_P03973 132 14326 9.11 0 Secreted NA PE1 20 +NX_P03979 118 13664 8.97 0 Cell membrane NA PE1 7 +NX_P03986 189 21698 5.95 1 Cell membrane NA PE1 7 +NX_P03989 362 40428 5.54 1 Membrane Spondyloarthropathy 1 PE1 6 +NX_P03999 348 39135 8.91 7 Membrane Tritan color blindness PE1 7 +NX_P04000 364 40572 8.89 7 Membrane Colorblindness, partial, protan series;Blue cone monochromacy PE1 X +NX_P04001 364 40584 8.9 7 Cell membrane Blue cone monochromacy;Cone dystrophy 5;Colorblindness, partial, deutan series PE1 X +NX_P04003 597 67033 7.15 0 Secreted NA PE1 1 +NX_P04004 478 54306 5.55 0 Cytoplasmic vesicle;Extracellular space;Endoplasmic reticulum NA PE1 17 +NX_P04035 888 97476 6.33 7 Endoplasmic reticulum membrane NA PE1 5 +NX_P04040 527 59756 6.9 0 Cytoplasmic vesicle;Cytosol;Peroxisome Acatalasemia PE1 11 +NX_P04049 648 73052 9.33 0 Mitochondrion;Cytoplasm;Nucleus;Cell membrane;Nucleus speckle LEOPARD syndrome 2;Cardiomyopathy, dilated 1NN;Noonan syndrome 5 PE1 3 +NX_P04053 509 58536 8.66 0 Cytosol;Nucleoplasm;Nucleus NA PE1 10 +NX_P04054 148 16360 8.16 0 Cytosol;Secreted NA PE1 12 +NX_P04062 536 59716 7.29 0 Lysosome membrane Gaucher disease perinatal lethal;Gaucher disease 3C;Gaucher disease 2;Gaucher disease 3;Gaucher disease 1;Parkinson disease;Gaucher disease PE1 1 +NX_P04066 466 53689 6.37 0 Lysosome Fucosidosis PE1 1 +NX_P04070 461 52071 5.85 0 Endoplasmic reticulum;Golgi apparatus;Secreted Thrombophilia due to protein C deficiency, autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive PE1 2 +NX_P04075 364 39420 8.3 0 Cytosol;I band;M line;Nucleus Glycogen storage disease 12 PE1 16 +NX_P04080 98 11140 6.96 0 Cytosol;Cytoplasm;Nucleolus;Nucleus Epilepsy, progressive myoclonic 1 PE1 21 +NX_P04083 346 38714 6.57 0 Extracellular space;Apical cell membrane;Basolateral cell membrane;Secreted;Cytosol;Cytoplasm;Membrane;Cell membrane;Exosome;Endosome membrane;Nucleoplasm;Phagocytic cup;Nucleus;Early endosome;Cytoplasmic vesicle membrane;Secretory vesicle lumen;Cilium;Lateral cell membrane NA PE1 9 +NX_P04085 211 24043 9.52 0 Cytoplasmic vesicle;Secreted;Microtubule organizing center NA PE1 7 +NX_P04090 185 21043 8.88 0 Secreted NA PE1 9 +NX_P04114 4563 515605 6.58 0 Cytoplasmic vesicle;Cytoplasm;Cytosol;Secreted Hypobetalipoproteinemia, familial, 1;Familial ligand-defective apolipoprotein B-100 PE1 2 +NX_P04118 112 11954 7.48 0 Secreted NA PE1 6 +NX_P04141 144 16295 5.21 0 Cytoplasmic vesicle;Secreted NA PE1 5 +NX_P04150 777 85659 6 0 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Mitochondrion;Spindle;Centrosome Glucocorticoid resistance, generalized PE1 5 +NX_P04155 84 9150 4.29 0 Secreted NA PE1 21 +NX_P04156 253 27661 9.13 0 Cytosol;Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Nucleus membrane Creutzfeldt-Jakob disease;Spongiform encephalopathy with neuropsychiatric features;Huntington disease-like 1;Fatal familial insomnia;Kuru;Gerstmann-Straussler disease PE1 20 +NX_P04179 222 24750 8.35 0 Mitochondrion matrix Microvascular complications of diabetes 6 PE1 6 +NX_P04180 440 49578 5.71 0 Nucleoplasm;Secreted Fish-eye disease;Lecithin-cholesterol acyltransferase deficiency PE1 16 +NX_P04181 439 48535 6.57 0 Mitochondrion matrix;Mitochondrion;Nucleoplasm Hyperornithinemia with gyrate atrophy of choroid and retina PE1 10 +NX_P04183 234 25469 8.85 0 Cytoplasm NA PE1 17 +NX_P04196 525 59578 7.09 0 Nucleolus;Secreted Thrombophilia due to histidine-rich glycoprotein deficiency PE1 3 +NX_P04198 464 49561 5.45 0 Nucleolus;Nucleus Feingold syndrome 1 PE1 2 +NX_P04201 325 37465 8.9 7 Cell membrane NA PE1 6 +NX_P04211 117 12451 6.52 0 Cell membrane;Secreted NA PE1 22 +NX_P04216 161 17935 8.96 0 Nucleus;Cell membrane;Endoplasmic reticulum NA PE1 11 +NX_P04217 495 54254 5.56 0 Secreted NA PE1 19 +NX_P04222 366 40861 5.97 1 Membrane NA PE1 6 +NX_P04229 266 29914 7.61 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane Sarcoidosis 1 PE1 6 +NX_P04233 296 33516 8.72 1 Endoplasmic reticulum membrane;Endosome;Golgi apparatus;Lysosome;Cell membrane;trans-Golgi network NA PE1 5 +NX_P04234 171 18930 5.3 1 Cell membrane Immunodeficiency 19 PE1 11 +NX_P04259 564 60067 8.09 0 NA Pachyonychia congenita 4 PE1 12 +NX_P04264 644 66039 8.15 0 Cell membrane Ichthyosis hystrix, Curth-Macklin type;Keratoderma, palmoplantar, non-epidermolytic;Ichthyosis annular epidermolytic;Keratoderma, palmoplantar, striate 3;Epidermolytic hyperkeratosis PE1 12 +NX_P04271 92 10713 4.57 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 21 +NX_P04275 2813 309265 5.29 0 Secreted;Extracellular matrix von Willebrand disease 1;von Willebrand disease 3;von Willebrand disease 2 PE1 12 +NX_P04278 402 43779 6.22 0 Secreted NA PE1 17 +NX_P04279 462 52131 9.3 0 Secreted NA PE1 20 +NX_P04280 392 38562 11.22 0 Secreted NA PE1 12 +NX_P04350 444 49586 4.78 0 Cytoskeleton Dystonia 4, torsion, autosomal dominant;Leukodystrophy, hypomyelinating, 6 PE1 19 +NX_P04406 335 36053 8.57 0 Cytosol;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Membrane;Cytoskeleton NA PE1 12 +NX_P04424 464 51658 6.04 0 Cytosol Argininosuccinic aciduria PE1 7 +NX_P04430 117 12618 8.4 0 Cell membrane;Secreted NA PE1 2 +NX_P04432 117 12737 8.91 0 Cell membrane;Secreted NA PE1 2 +NX_P04433 115 12575 4.85 0 Cell membrane;Secreted NA PE1 2 +NX_P04435 115 13107 7.7 0 Cell membrane NA PE1 7 +NX_P04437 119 13438 6.03 0 Cell membrane NA PE1 14 +NX_P04439 365 40841 5.66 1 Membrane NA PE1 6 +NX_P04440 258 29159 8.83 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Nucleus;Cell junction NA PE1 6 +NX_P04553 51 6823 12.08 0 Nucleus;Chromosome NA PE1 16 +NX_P04554 102 13051 11.9 0 Nucleus;Chromosome NA PE1 16 +NX_P04626 1255 137910 5.58 1 Cytosol;Cytoplasm;Perinuclear region;Nucleus;Cell membrane Ovarian cancer;Gastric cancer;Lung cancer;Glioma PE1 17 +NX_P04628 370 40982 9.28 0 Secreted;Extracellular matrix Osteogenesis imperfecta 15;Osteoporosis PE1 12 +NX_P04629 796 87497 6.17 1 Cytosol;Early endosome membrane;Cell membrane;Cytoplasmic vesicle;Late endosome membrane;Recycling endosome membrane Congenital insensitivity to pain with anhidrosis PE1 1 +NX_P04632 268 28316 5.05 0 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA PE1 19 +NX_P04637 393 43653 6.33 0 PML body;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Nucleus;Mitochondrion matrix Papilloma of choroid plexus;Basal cell carcinoma 7;Li-Fraumeni syndrome;Adrenocortical carcinoma;Esophageal cancer;Lung cancer;Squamous cell carcinoma of the head and neck PE1 17 +NX_P04731 61 6120 8.38 0 NA NA PE1 16 +NX_P04732 61 6014 8.38 0 Nucleoplasm NA PE1 16 +NX_P04733 61 6086 8.23 0 NA NA PE1 16 +NX_P04745 511 57768 6.47 0 Secreted NA PE1 1 +NX_P04746 511 57707 6.6 0 Extracellular space NA PE1 1 +NX_P04792 205 22783 5.98 0 Cytosol;Cytoplasm;Spindle;Nucleus;Cell membrane Charcot-Marie-Tooth disease 2F;Neuronopathy, distal hereditary motor, 2B PE1 7 +NX_P04798 512 58165 8.61 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 15 +NX_P04808 185 21146 8.97 0 Secreted NA PE2 9 +NX_P04818 313 35716 6.51 0 Mitochondrion inner membrane;Cytoplasm;Mitochondrion;Mitochondrion matrix;Nucleus NA PE1 18 +NX_P04839 570 65336 8.9 6 Cell membrane Immunodeficiency 34;Granulomatous disease, chronic, X-linked PE1 X +NX_P04843 607 68569 5.96 1 Endoplasmic reticulum membrane;Melanosome;Endoplasmic reticulum NA PE1 3 +NX_P04844 631 69284 5.44 3 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 20 +NX_P04899 355 40451 5.34 0 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Membrane;Centrosome NA PE1 3 +NX_P04908 130 14135 11.05 0 Nucleoplasm;Nucleus;Chromosome NA PE1 6 +NX_P04920 1241 137009 5.9 10 Cytosol;Nucleus speckle;Cell membrane;Membrane NA PE1 7 +NX_P04921 128 13811 4.68 1 Cytoplasmic vesicle;Cytosol;Cell membrane NA PE1 2 +NX_P05000 195 22319 9.18 0 Secreted NA PE1 9 +NX_P05013 189 22141 6.9 0 Secreted NA PE1 9 +NX_P05014 189 21808 5.76 0 Secreted NA PE1 9 +NX_P05015 189 21711 6.31 0 Secreted NA PE2 9 +NX_P05019 195 21841 9.78 0 Secreted Insulin-like growth factor I deficiency PE1 12 +NX_P05023 1023 112896 5.33 10 Melanosome;Sarcolemma;Cell membrane Charcot-Marie-Tooth disease 2DD PE1 1 +NX_P05026 303 35061 8.74 1 Cell membrane;Sarcolemma NA PE1 1 +NX_P05060 677 78276 5.02 0 Cytoplasmic vesicle;Secreted NA PE1 20 +NX_P05062 364 39473 8.01 0 Centriolar satellite Hereditary fructose intolerance PE1 9 +NX_P05067 770 86943 4.73 1 Perikaryon;Golgi apparatus;Membrane;Clathrin-coated pit;Cell membrane;Cytoplasmic vesicle;Early endosome;Growth cone Alzheimer disease 1;Cerebral amyloid angiopathy, APP-related PE1 21 +NX_P05089 322 34735 6.72 0 Cytoplasm;Cytoplasmic granule Argininemia PE1 6 +NX_P05090 189 21276 5.06 0 Cell membrane;Secreted NA PE1 3 +NX_P05091 517 56381 6.63 0 Mitochondrion matrix NA PE1 12 +NX_P05093 508 57371 8.72 0 Membrane Adrenal hyperplasia 5 PE1 10 +NX_P05106 788 87058 5.09 1 Focal adhesion;Lamellipodium membrane;Cell membrane Bleeding disorder, platelet-type 16;Glanzmann thrombasthenia PE1 17 +NX_P05107 769 84782 6.66 1 Membrane raft;Cell membrane Leukocyte adhesion deficiency 1 PE1 21 +NX_P05108 521 60102 8.89 0 Mitochondrion inner membrane Adrenal insufficiency, congenital, with 46,XY sex reversal PE1 15 +NX_P05109 93 10835 6.51 0 Cytoplasm;Cytoskeleton;Cell membrane;Secreted NA PE1 1 +NX_P05111 366 39670 8.29 0 Cytoplasmic vesicle;Secreted NA PE1 2 +NX_P05112 153 17492 9.17 0 Secreted Ischemic stroke PE1 5 +NX_P05113 134 15238 7.81 0 Secreted NA PE1 5 +NX_P05114 100 10659 9.6 0 Cytoplasm;Nucleus NA PE1 21 +NX_P05120 415 46596 5.46 0 Cytoplasm;Extracellular space NA PE1 18 +NX_P05121 402 45060 6.68 0 Cytosol;Secreted Plasminogen activator inhibitor-1 deficiency PE1 7 +NX_P05129 697 78448 7.27 0 Cytoplasm;Dendrite;Perinuclear region;Cell membrane;Synaptosome Spinocerebellar ataxia 14 PE1 19 +NX_P05141 298 32852 9.71 6 Cytoplasm;Mitochondrion inner membrane NA PE1 X +NX_P05154 406 45675 9.3 0 Mitochondrion;Extracellular space NA PE1 14 +NX_P05155 500 55154 6.09 0 Secreted Hereditary angioedema PE1 11 +NX_P05156 583 65750 7.72 0 Extracellular space Hemolytic uremic syndrome atypical 3;Macular degeneration, age-related, 13;Complement factor I deficiency PE1 4 +NX_P05160 661 75511 6.01 0 Secreted Factor XIII subunit B deficiency PE1 1 +NX_P05161 165 17888 6.83 0 Cytoplasm;Secreted Immunodeficiency 38, with basal ganglia calcification PE1 1 +NX_P05162 132 14644 5.93 0 Mitochondrion;Nucleoplasm NA PE1 22 +NX_P05164 745 83869 9.19 0 Cytoplasmic vesicle;Nucleus;Lysosome Myeloperoxidase deficiency PE1 17 +NX_P05165 728 80059 7.24 0 Mitochondrion matrix Propionic acidemia type I PE1 13 +NX_P05166 539 58216 7.56 0 Mitochondrion matrix Propionic acidemia type II PE1 3 +NX_P05177 516 58407 9.18 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 15 +NX_P05181 493 56849 8.28 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 10 +NX_P05186 524 57305 6.19 0 Cytosol;Cell membrane Hypophosphatasia childhood type;Hypophosphatasia;Hypophosphatasia infantile type PE1 1 +NX_P05187 535 57954 5.86 1 Cell membrane NA PE1 2 +NX_P05198 315 36112 5.02 0 Stress granule;Nucleoplasm;Cytosol NA PE1 14 +NX_P05204 90 9393 10 0 Cytoplasm;Nucleus NA PE1 1 +NX_P05230 155 17460 6.52 0 Cytosol;Nucleus;Secreted;Cell cortex;Cytoplasm NA PE1 5 +NX_P05231 212 23718 6.17 0 Cytoplasmic vesicle;Secreted Rheumatoid arthritis systemic juvenile PE1 7 +NX_P05305 212 24425 9.52 0 Nucleolus;Nucleus;Golgi apparatus;Secreted Auriculocondylar syndrome 3;Question mark ears, isolated PE1 6 +NX_P05362 532 57825 8.31 1 Cytosol;Cell membrane;Membrane NA PE1 19 +NX_P05386 114 11514 4.26 0 Cytosol;Cytoplasm;Endoplasmic reticulum NA PE1 15 +NX_P05387 115 11665 4.42 0 Mitochondrion;Cytoplasm NA PE1 11 +NX_P05388 317 34274 5.72 0 Cytoplasm;Nucleus NA PE1 12 +NX_P05408 212 23730 5.62 0 Secreted NA PE1 15 +NX_P05412 331 35676 8.9 0 Nucleoplasm;Nucleus NA PE1 1 +NX_P05413 133 14858 6.29 0 Cytoplasm;Golgi apparatus NA PE1 1 +NX_P05423 398 44396 6.51 0 Nucleoplasm;Nucleus NA PE1 8 +NX_P05451 166 18731 5.65 0 Secreted NA PE1 2 +NX_P05452 202 22537 5.52 0 Secreted NA PE1 3 +NX_P05455 408 46837 6.68 0 Nucleoplasm;Nucleus NA PE1 2 +NX_P05496 136 14277 9.81 2 Mitochondrion;Mitochondrion membrane NA PE1 17 +NX_P05534 365 40689 5.91 1 Membrane NA PE1 6 +NX_P05538 268 30387 6.32 1 Endoplasmic reticulum membrane;Endosome membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane NA PE1 6 +NX_P05543 415 46325 5.87 0 Secreted NA PE1 X +NX_P05546 499 57071 6.41 0 Cytoplasmic vesicle Thrombophilia due to heparin cofactor 2 deficiency PE1 22 +NX_P05549 437 48062 8.1 0 Nucleoplasm;Nucleus Branchiooculofacial syndrome PE1 6 +NX_P05556 798 88415 5.27 1 Invadopodium membrane;Melanosome;Ruffle membrane;Cleavage furrow;Cell membrane;Focal adhesion;Endoplasmic reticulum;Sarcolemma;Lamellipodium;Cell surface;Recycling endosome;Cell junction;Ruffle NA PE1 10 +NX_P05771 671 76869 6.57 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm;Membrane NA PE1 16 +NX_P05783 430 48058 5.34 0 Cytosol;Cytoplasm;Perinuclear region;Nucleolus Cirrhosis PE1 12 +NX_P05787 483 53704 5.52 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus matrix Cirrhosis PE1 12 +NX_P05813 215 25150 5.82 0 NA Cataract 10, multiple types PE1 17 +NX_P05814 226 25382 5.52 0 Secreted NA PE1 4 +NX_P05937 261 30025 4.7 0 Cytoplasmic vesicle NA PE1 8 +NX_P05976 194 21145 4.97 0 NA NA PE1 2 +NX_P05981 417 45011 7.8 1 Apical cell membrane;Cell membrane NA PE1 19 +NX_P05997 1499 144910 6.07 0 Extracellular matrix Ehlers-Danlos syndrome, classic type, 2 PE1 2 +NX_P06028 91 9782 9.43 1 Cell membrane NA PE1 4 +NX_P06126 327 37077 6.3 1 Endosome membrane;Membrane raft;Cell membrane NA PE1 1 +NX_P06127 495 54578 8.59 1 Cell membrane NA PE1 11 +NX_P06132 367 40787 5.77 0 Cytosol;Cytoplasm;Nucleoplasm Familial porphyria cutanea tarda;Hepatoerythropoietic porphyria PE1 1 +NX_P06133 528 60513 8.7 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 4 +NX_P06213 1382 156333 5.83 1 Cytoplasmic vesicle;Cell membrane Leprechaunism;Insulin-resistant diabetes mellitus with acanthosis nigricans type A;Rabson-Mendenhall syndrome;Diabetes mellitus, non-insulin-dependent;Familial hyperinsulinemic hypoglycemia 5 PE1 19 +NX_P06239 509 58001 5.23 0 Cytoplasm;Cell membrane;Golgi apparatus Immunodeficiency 22 PE1 1 +NX_P06241 537 60762 6.23 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 6 +NX_P06276 602 68418 7.12 0 Secreted Butyrylcholinesterase deficiency PE1 3 +NX_P06280 429 48767 5.35 0 Lysosome Fabry disease PE1 X +NX_P06307 115 12669 9.18 0 Secreted NA PE1 3 +NX_P06310 120 13185 8.71 0 Cell membrane;Secreted NA PE1 2 +NX_P06312 121 13380 5.09 0 Cell membrane;Secreted NA PE1 2 +NX_P06315 115 12728 4.21 0 Cell membrane;Secreted NA PE1 2 +NX_P06331 123 13815 9.39 0 Cell membrane;Secreted NA PE1 14 +NX_P06340 250 27599 5.57 1 Endosome membrane;Lysosome membrane NA PE1 6 +NX_P06396 782 85698 5.9 0 Cytoskeleton;Secreted Amyloidosis 5 PE1 9 +NX_P06400 928 106159 8.13 0 Nucleoplasm;Nucleus Osteogenic sarcoma;Bladder cancer;Childhood cancer retinoblastoma PE1 13 +NX_P06401 933 98981 6.09 0 Cytoplasm;Nucleus;Mitochondrion outer membrane NA PE1 11 +NX_P06454 111 12203 3.69 0 Nucleus NA PE1 2 +NX_P06493 297 34095 8.38 0 Cytosol;Cytoplasm;Nucleus;Mitochondrion;Spindle;Centrosome NA PE1 10 +NX_P06576 529 56560 5.26 0 Mitochondrion;Mitochondrion inner membrane NA PE1 12 +NX_P06681 752 83268 7.23 0 Secreted Complement component 2 deficiency PE1 6 +NX_P06702 114 13242 5.71 0 Secreted;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Cytoskeleton;Cell junction NA PE1 1 +NX_P06703 90 10180 5.32 0 Cytosol;Cytoplasm;Nucleus envelope;Cell membrane NA PE1 1 +NX_P06727 396 45399 5.28 0 Cytoplasmic vesicle;Secreted NA PE1 11 +NX_P06729 351 39448 9.66 1 Cell membrane NA PE1 1 +NX_P06730 217 25097 5.79 0 Cytosol;Cytoplasm;P-body Autism 19 PE1 4 +NX_P06731 702 76795 5.59 0 Cell surface;Apical cell membrane;Cell membrane NA PE1 19 +NX_P06732 381 43101 6.77 0 Cytoplasm NA PE1 19 +NX_P06733 434 47169 7.01 0 Cytoplasm;M line;Nucleus;Cell membrane NA PE1 1 +NX_P06734 321 36469 5.38 1 Cell membrane;Secreted NA PE1 19 +NX_P06737 847 97149 6.71 0 Cytosol;Cell membrane Glycogen storage disease 6 PE1 14 +NX_P06744 558 63147 8.42 0 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane;Secreted Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency PE1 19 +NX_P06746 335 38178 9.01 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 8 +NX_P06748 294 32575 4.64 0 Nucleoplasm;Nucleolus;Nucleus;Centrosome NA PE1 5 +NX_P06753 285 32950 4.68 0 Cytoplasm;Cytoskeleton Nemaline myopathy 1;Cap myopathy 1;Myopathy, congenital, with fiber-type disproportion PE1 1 +NX_P06756 1048 116038 5.45 1 Cytosol;Focal adhesion;Membrane NA PE1 2 +NX_P06850 196 21422 10 0 Secreted NA PE1 8 +NX_P06858 475 53162 8.37 0 Cytoplasmic vesicle;Cell membrane;Secreted Lipoprotein lipase deficiency PE1 8 +NX_P06865 529 60703 5.04 0 Lysosome GM2-gangliosidosis 1 PE1 15 +NX_P06870 262 28890 4.68 0 NA NA PE1 19 +NX_P06881 128 13899 9.18 0 Secreted NA PE1 11 +NX_P06899 126 13904 10.31 0 Nucleus;Chromosome NA PE1 6 +NX_P07093 398 44002 9.35 0 Extracellular space NA PE1 2 +NX_P07098 398 45238 6.83 0 Secreted NA PE1 10 +NX_P07099 455 52949 6.77 1 Endoplasmic reticulum membrane;Microsome membrane Familial hypercholanemia PE1 1 +NX_P07101 528 58600 5.9 0 NA Segawa syndrome autosomal recessive PE1 11 +NX_P07108 87 10044 6.12 0 Golgi apparatus;Endoplasmic reticulum NA PE1 2 +NX_P07148 127 14208 6.6 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 2 +NX_P07195 334 36638 5.71 0 Cytosol;Cytoplasm Lactate dehydrogenase B deficiency PE1 12 +NX_P07196 543 61517 4.64 0 Nucleus speckle;Cytoskeleton Charcot-Marie-Tooth disease 2E;Charcot-Marie-Tooth disease 1F PE1 8 +NX_P07197 916 102472 4.9 0 Cytoskeleton NA PE1 8 +NX_P07199 599 65171 4.49 0 Centromere;Nucleus NA PE1 20 +NX_P07202 933 102963 6.32 1 Cell surface;Membrane Thyroid dyshormonogenesis 2A PE1 2 +NX_P07203 203 22088 6.15 0 Cytosol;Cytoplasm NA PE1 3 +NX_P07204 575 60329 4.78 1 Nucleoplasm;Cytosol;Membrane Hemolytic uremic syndrome atypical 6;Thrombophilia due to thrombomodulin defect PE1 20 +NX_P07205 417 44796 8.74 0 Cytoplasm NA PE1 6 +NX_P07225 676 75123 5.48 0 Secreted Thrombophilia due to protein S deficiency, autosomal recessive;Thrombophilia due to protein S deficiency, autosomal dominant PE1 3 +NX_P07237 508 57116 4.76 0 Endoplasmic reticulum lumen;Melanosome;Cell membrane;Endoplasmic reticulum Cole-Carpenter syndrome 1 PE1 17 +NX_P07288 261 28741 7.61 0 Secreted NA PE1 19 +NX_P07305 194 20863 10.84 0 Cytoskeleton;Nucleus;Chromosome;Golgi apparatus NA PE1 22 +NX_P07306 291 33186 5.28 1 Cytoplasmic vesicle;Membrane;Cell junction;Secreted NA PE1 17 +NX_P07307 311 35092 5.81 1 Cell membrane;Endoplasmic reticulum;Membrane NA PE1 17 +NX_P07311 99 11261 9.3 0 Cytosol;Nucleus NA PE1 14 +NX_P07315 174 20879 6.88 0 NA Cataract 2, multiple types PE1 2 +NX_P07316 175 20908 6.88 0 NA Cataract 39, multiple types PE1 2 +NX_P07320 174 20738 7 0 Cytoskeleton;Cell membrane Cataract 4, multiple types PE1 2 +NX_P07327 375 39859 8.26 0 Cytoplasm NA PE1 4 +NX_P07332 822 93497 6.27 0 Golgi apparatus;Cytosol;Cell membrane;Cytoplasmic vesicle;Focal adhesion;Nucleus;Cytoskeleton NA PE1 15 +NX_P07333 972 107984 5.93 1 Cytoplasmic vesicle;Cell membrane Leukoencephalopathy, diffuse hereditary, with spheroids PE1 5 +NX_P07339 412 44552 6.1 0 Extracellular space;Melanosome;Lysosome Ceroid lipofuscinosis, neuronal, 10 PE1 11 +NX_P07355 339 38604 7.57 0 Basement membrane;Melanosome NA PE1 15 +NX_P07357 584 65163 6.07 0 Cell membrane;Secreted Complement component 8 deficiency, 1 PE1 1 +NX_P07358 591 67047 8.5 0 Secreted Complement component 8 deficiency, 2 PE1 1 +NX_P07359 652 71540 5.87 1 Membrane Non-arteritic anterior ischemic optic neuropathy;Pseudo-von Willebrand disease;Bernard-Soulier syndrome;Bernard-Soulier syndrome A2, autosomal dominant PE1 17 +NX_P07360 202 22277 8.49 0 Endoplasmic reticulum;Secreted NA PE1 9 +NX_P07384 714 81890 5.49 0 Cytosol;Cytoplasm;Cell membrane Spastic paraplegia 76, autosomal recessive PE1 11 +NX_P07437 444 49671 4.78 0 Cytoplasm;Cytoskeleton Cortical dysplasia, complex, with other brain malformations 6;Skin creases, congenital symmetric circumferential, 1 PE1 6 +NX_P07438 61 6115 8.47 0 NA NA PE1 16 +NX_P07451 260 29557 6.86 0 Cytoplasm NA PE1 8 +NX_P07476 585 68479 4.62 0 Cytosol;Cytoplasm;Nucleus;Centrosome NA PE1 1 +NX_P07477 247 26558 6.08 0 Extracellular space Pancreatitis, hereditary PE1 7 +NX_P07478 247 26488 4.78 0 Extracellular space NA PE1 7 +NX_P07492 148 16213 10.22 0 Secretory vesicle lumen;Secreted NA PE1 18 +NX_P07498 182 20305 8.97 0 Secreted NA PE1 4 +NX_P07510 517 57883 5.86 4 Postsynaptic cell membrane;Cell membrane Multiple pterygium syndrome, lethal type;Multiple pterygium syndrome, Escobar variant PE1 2 +NX_P07550 413 46459 6.59 7 Cytosol;Cell membrane;Early endosome NA PE1 5 +NX_P07585 359 39747 8.75 0 Extracellular matrix Corneal dystrophy, congenital stromal PE1 12 +NX_P07602 524 58113 5.06 0 Cytoplasmic vesicle;Lysosome;Secreted Metachromatic leukodystrophy due to saposin-B deficiency;Combined saposin deficiency;Krabbe disease, atypical, due to saposin A deficiency;Gaucher disease, atypical, due to saposin C deficiency PE1 10 +NX_P07686 556 63111 6.29 0 Lysosome GM2-gangliosidosis 2 PE1 5 +NX_P07711 333 37564 5.32 0 Lysosome NA PE1 9 +NX_P07737 140 15054 8.44 0 Cytosol;Cytoplasm;Cytoskeleton Amyotrophic lateral sclerosis 18 PE1 17 +NX_P07738 259 30005 6.1 0 Nucleolus Bisphosphoglycerate mutase deficiency PE1 7 +NX_P07741 180 19608 5.78 0 Cytosol;Cytoplasm;Nucleoplasm Adenine phosphoribosyltransferase deficiency PE1 16 +NX_P07766 207 23147 6.32 1 Cell membrane Immunodeficiency 18 PE1 11 +NX_P07814 1512 170591 7.02 0 Cytosol;Cytoplasm;Membrane Leukodystrophy, hypomyelinating, 15 PE1 1 +NX_P07858 339 37822 5.88 0 Cytoplasmic vesicle;Extracellular space;Nucleolus;Melanosome;Lysosome NA PE1 8 +NX_P07864 332 36311 7.08 0 Cytoplasm NA PE1 11 +NX_P07900 732 84660 4.94 0 Cytosol;Cytoplasm;Nucleus;Cell membrane;Melanosome NA PE1 14 +NX_P07902 379 43363 6.49 0 Cytosol Galactosemia PE1 9 +NX_P07910 306 33670 4.95 0 Nucleoplasm;Nucleus NA PE1 14 +NX_P07911 640 69761 5.05 0 Cilium membrane;Apical cell membrane;Basolateral cell membrane;Secreted Medullary cystic kidney disease 2;Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Familial juvenile hyperuricemic nephropathy 1 PE1 16 +NX_P07919 91 10739 4.39 0 Mitochondrion inner membrane NA PE1 1 +NX_P07942 1786 198038 4.83 0 Basement membrane Lissencephaly 5 PE1 7 +NX_P07947 543 60801 6.32 0 Cytosol;Centrosome;Cell membrane NA PE1 18 +NX_P07948 512 58574 6.7 0 Golgi apparatus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Perinuclear region;Nucleus;Membrane NA PE1 8 +NX_P07949 1114 124319 6.17 1 Endosome membrane;Cytosol;Cytoplasmic vesicle;Cell membrane Pheochromocytoma;Colorectal cancer;Congenital central hypoventilation syndrome;Medullary thyroid carcinoma;Hirschsprung disease 1;Multiple neoplasia 2B;Multiple neoplasia 2A PE1 10 +NX_P07951 284 32851 4.66 0 Cytoplasm;Cytoskeleton Arthrogryposis, distal, 2B;Cap myopathy 2;Arthrogryposis, distal, 1A;Nemaline myopathy 4 PE1 9 +NX_P07954 510 54637 8.85 0 Mitochondrion;Cytoplasm Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer PE1 1 +NX_P07988 381 42117 5.27 0 Surface film Pulmonary surfactant metabolism dysfunction 1;Respiratory distress syndrome in premature infants PE1 2 +NX_P07992 297 32562 5.9 0 Nucleoplasm;Cytoplasm;Nucleus Cerebro-oculo-facio-skeletal syndrome 4 PE1 19 +NX_P07996 1170 129383 4.71 0 Secreted;Extracellular matrix;Endoplasmic reticulum;Sarcoplasmic reticulum;Cell membrane;Cell surface NA PE1 15 +NX_P07998 156 17644 9.1 0 Cytoplasmic vesicle;Nucleoplasm;Secreted NA PE1 14 +NX_P08034 283 32025 9.19 4 Gap junction;Cell membrane Charcot-Marie-Tooth disease, X-linked dominant, 1;Dejerine-Sottas syndrome PE1 X +NX_P08047 785 80693 6.94 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 12 +NX_P08048 801 90505 5.65 0 Nucleus NA PE1 Y +NX_P08069 1367 154793 5.58 1 Cytoplasmic vesicle;Cell membrane Insulin-like growth factor 1 resistance PE1 15 +NX_P08100 348 38893 6.21 7 Photoreceptor outer segment;Cell membrane;Membrane Retinitis pigmentosa 4;Night blindness, congenital stationary, autosomal dominant 1 PE1 3 +NX_P08118 114 12865 5.36 0 Secreted Prostate cancer, hereditary, 13 PE1 10 +NX_P08123 1366 129314 9.08 0 Endoplasmic reticulum;Extracellular matrix Osteogenesis imperfecta 4;Osteogenesis imperfecta 3;Osteogenesis imperfecta 2;Osteogenesis imperfecta 1;Ehlers-Danlos syndrome, arthrochalasia type, 2;Ehlers-Danlos syndrome, cardiac valvular type PE1 7 +NX_P08133 673 75873 5.42 0 Cytoplasm;Melanosome NA PE1 5 +NX_P08134 193 22006 6.2 0 Cell membrane;Cleavage furrow NA PE1 1 +NX_P08138 427 45183 4.59 1 Nucleoplasm;Cell membrane;Membrane NA PE1 17 +NX_P08151 1106 117904 6.98 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 12 +NX_P08172 466 51715 9.07 7 Postsynaptic cell membrane;Cell membrane Major depressive disorder PE1 7 +NX_P08173 479 53049 9.87 7 Nucleus;Postsynaptic cell membrane;Golgi apparatus;Cell membrane NA PE1 11 +NX_P08174 381 41400 7.79 0 Cytoplasmic vesicle;Midbody ring;Cell membrane;Secreted Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy PE1 1 +NX_P08183 1280 141479 9.06 12 Cytosol;Nucleoplasm;Focal adhesion;Cell membrane Inflammatory bowel disease 13 PE1 7 +NX_P08185 405 45141 5.64 0 Secreted Corticosteroid-binding globulin deficiency PE1 14 +NX_P08195 630 67994 4.89 1 Cytosol;Nucleus;Apical cell membrane;Melanosome;Cell membrane NA PE1 11 +NX_P08217 269 28888 8.8 0 Secreted NA PE1 1 +NX_P08218 269 28810 6.48 0 Secreted NA PE1 1 +NX_P08235 984 107082 7.22 0 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Nucleoplasm Pseudohypoaldosteronism 1, autosomal dominant;Early-onset hypertension with severe exacerbation in pregnancy PE1 4 +NX_P08236 651 74732 6.54 0 Cytoplasmic vesicle;Lysosome Mucopolysaccharidosis 7 PE1 7 +NX_P08237 780 85183 8.23 0 Cytoplasm;Endoplasmic reticulum Glycogen storage disease 7 PE1 12 +NX_P08238 724 83264 4.97 0 Cytoplasm;Nucleus;Melanosome;Cell membrane;Secreted NA PE1 6 +NX_P08240 638 69811 9.07 0 Endoplasmic reticulum membrane NA PE1 11 +NX_P08243 561 64370 6.39 0 Cytosol Asparagine synthetase deficiency PE1 7 +NX_P08246 267 28518 9.71 0 NA Cyclic haematopoiesis;Neutropenia, severe congenital 1, autosomal dominant PE1 19 +NX_P08247 313 33845 4.66 4 Synaptosome;Synaptic vesicle membrane Mental retardation, X-linked 96 PE1 X +NX_P08253 660 73882 5.26 0 Extracellular matrix;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Membrane;Mitochondrion Multicentric osteolysis, nodulosis, and arthropathy PE1 16 +NX_P08254 477 53977 5.77 0 Cytoplasmic vesicle;Extracellular matrix Coronary heart disease 6 PE1 11 +NX_P08263 222 25631 8.91 0 Cytoplasm NA PE1 6 +NX_P08294 240 25851 6.13 0 Extracellular space NA PE1 4 +NX_P08311 255 28837 11.19 0 Cell surface NA PE1 14 +NX_P08319 380 40222 8.25 0 Cytosol;Cytoplasm;Nucleus NA PE1 4 +NX_P08397 361 39330 6.68 0 Cytoplasm;Lipid droplet Acute intermittent porphyria PE1 11 +NX_P08473 750 85514 5.54 1 Cell membrane Charcot-Marie-Tooth disease 2T;Spinocerebellar ataxia 43 PE1 3 +NX_P08476 426 47442 8.3 0 Secreted NA PE1 7 +NX_P08493 103 12353 9.71 0 Secreted Keutel syndrome PE1 12 +NX_P08514 1039 113377 5.21 1 Membrane Bleeding disorder, platelet-type 16;Glanzmann thrombasthenia PE1 17 +NX_P08519 4548 501319 5.58 0 NA NA PE1 6 +NX_P08559 390 43296 8.35 0 Mitochondrion matrix Pyruvate dehydrogenase E1-alpha deficiency PE1 X +NX_P08567 350 40125 8.51 0 Nucleolus NA PE1 2 +NX_P08571 375 40076 5.84 0 Cytoplasmic vesicle;Cell membrane;Membrane raft;Golgi apparatus;Secreted NA PE1 5 +NX_P08572 1712 167553 8.89 0 Cytoplasmic vesicle;Basement membrane Intracerebral hemorrhage;Porencephaly 2 PE1 13 +NX_P08574 325 35422 9.15 1 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 6 PE1 8 +NX_P08575 1306 147486 5.77 1 Membrane raft;Cell membrane Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive;Multiple sclerosis PE1 1 +NX_P08579 225 25486 9.72 0 Nucleus speckle;Nucleus NA PE1 20 +NX_P08581 1390 155541 7.02 1 Cytosol;Secreted;Cell membrane;Membrane Deafness, autosomal recessive, 97;Hepatocellular carcinoma;Osteofibrous dysplasia;Renal cell carcinoma papillary PE1 7 +NX_P08582 738 80215 5.61 0 Cell membrane NA PE1 3 +NX_P08588 477 51323 9.23 7 Cell membrane;Early endosome NA PE1 10 +NX_P08590 195 21932 5.03 0 Mitochondrion;Nucleolus Cardiomyopathy, familial hypertrophic 8 PE1 3 +NX_P08603 1231 139096 6.21 0 Secreted Complement factor H deficiency;Hemolytic uremic syndrome atypical 1;Basal laminar drusen;Macular degeneration, age-related, 4 PE1 1 +NX_P08620 206 22048 9.73 0 Secreted NA PE1 11 +NX_P08621 437 51557 9.94 0 Nucleoplasm;Nucleus speckle NA PE1 19 +NX_P08631 526 59600 6.27 0 Podosome membrane;Golgi apparatus;Lysosome;Nucleoplasm;Secretory vesicle;Cell membrane;Cytoplasmic vesicle;Cytosol;Focal adhesion;Nucleus;Membrane;Caveola;Cytoskeleton NA PE1 20 +NX_P08637 254 29089 8.2 1 Cell membrane;Secreted Immunodeficiency 20 PE1 1 +NX_P08648 1049 114536 5.5 1 Cell surface;Focal adhesion;Membrane NA PE1 12 +NX_P08651 508 55675 8.62 0 Nucleolus;Nucleus NA PE1 19 +NX_P08670 466 53652 5.06 0 Cytoplasm;Cytoskeleton;Nucleus matrix;Golgi apparatus;Cell membrane Cataract 30, multiple types PE1 10 +NX_P08684 503 57343 8.27 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 7 +NX_P08686 494 55887 7.71 0 Endoplasmic reticulum membrane;Microsome membrane Adrenal hyperplasia 3 PE1 6 +NX_P08697 491 54566 5.87 0 Cytoplasmic vesicle;Nucleoplasm;Secreted Alpha-2-plasmin inhibitor deficiency PE1 17 +NX_P08700 152 17233 8.69 0 Secreted NA PE1 5 +NX_P08708 135 15550 9.85 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum Diamond-Blackfan anemia 4 PE1 15 +NX_P08709 466 51594 6.92 0 Mitochondrion;Secreted Factor VII deficiency PE1 13 +NX_P08727 400 44106 5.05 0 Cytoskeleton NA PE1 17 +NX_P08729 469 51386 5.4 0 Cytoplasm NA PE1 12 +NX_P08754 354 40532 5.5 0 Cytoplasm;Centrosome;Cell membrane;Membrane Auriculocondylar syndrome 1 PE1 1 +NX_P08758 320 35937 4.94 0 Cytoplasm;Nucleus;Nucleus membrane Pregnancy loss, recurrent, 3 PE1 4 +NX_P08779 473 51268 4.98 0 NA Keratoderma, palmoplantar, non-epidermolytic, focal 1;Pachyonychia congenita 1 PE1 17 +NX_P08833 259 27904 5.11 0 Golgi apparatus;Secreted NA PE1 7 +NX_P08842 583 65492 7.6 2 Endoplasmic reticulum membrane Ichthyosis, X-linked PE1 X +NX_P08861 270 29263 5.85 0 NA NA PE1 1 +NX_P08865 295 32854 4.79 0 Cytosol;Cytoplasm;Nucleus;Cell membrane Asplenia, isolated congenital PE1 3 +NX_P08887 468 51548 8.56 1 Basolateral cell membrane;Secreted NA PE1 1 +NX_P08908 422 46107 9.13 7 Cell membrane Periodic fever, menstrual cycle-dependent PE1 5 +NX_P08910 425 48315 6.24 1 Cytosol;Nucleoplasm;Flagellum membrane;Cell membrane NA PE1 15 +NX_P08912 532 60074 9.39 7 Postsynaptic cell membrane;Cell membrane NA PE2 15 +NX_P08913 450 48957 9.8 7 Cell membrane NA PE1 10 +NX_P08922 2347 263915 5.76 1 Cytoplasmic vesicle;Cell membrane NA PE1 6 +NX_P08949 121 13252 11.87 0 Cytoplasmic vesicle;Nucleus;Cell membrane;Secreted NA PE1 15 +NX_P08962 238 25637 8.14 4 Lysosome membrane;Melanosome;Lysosome;Cytoplasm;Late endosome membrane;Cell membrane;Cytoplasmic vesicle;Nucleus;Multivesicular body;Cell surface;Exosome NA PE1 12 +NX_P08F94 4074 446702 6.12 1 Cytoplasm;Cell membrane;Spindle;Centromere;Cilium;Cilium basal body Polycystic kidney disease 4, with or without polycystic liver disease PE1 6 +NX_P09001 348 38633 9.52 0 Mitochondrion Combined oxidative phosphorylation deficiency 9 PE1 3 +NX_P09012 282 31280 9.83 0 Nucleoplasm;Nucleus NA PE1 19 +NX_P09016 255 27885 9.44 0 Nucleus;Cell junction NA PE1 2 +NX_P09017 264 29811 9.24 0 Nucleus NA PE1 12 +NX_P09038 288 30770 11.18 0 Nucleoplasm;Nucleus;Secreted NA PE1 4 +NX_P09067 269 29434 9.1 0 Nucleus NA PE1 17 +NX_P09086 479 51209 8.6 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytoplasm NA PE1 19 +NX_P09093 270 29489 6.43 0 NA NA PE1 1 +NX_P09104 434 47269 4.91 0 Cytoplasm;Cell membrane NA PE1 12 +NX_P09105 142 15508 7.09 0 Lipid droplet NA PE1 16 +NX_P09110 424 44292 8.76 0 Peroxisome NA PE1 3 +NX_P09131 477 50333 7.65 8 Cytoskeleton;Endoplasmic reticulum;Membrane NA PE1 X +NX_P09132 144 16156 9.87 0 Cytoplasm NA PE1 5 +NX_P09172 617 69065 5.97 1 Secreted;Endoplasmic reticulum;Secretory vesicle lumen;Cytoplasmic vesicle;Chromaffin granule lumen;Chromaffin granule membrane;Secretory vesicle membrane Dopamine beta-hydroxylase deficiency PE1 9 +NX_P09210 222 25664 8.51 0 Cytoplasm NA PE1 6 +NX_P09211 210 23356 5.43 0 Mitochondrion;Cytoplasm;Nucleus;Cytosol NA PE1 11 +NX_P09228 141 16445 4.85 0 Secreted NA PE1 20 +NX_P09234 159 17394 9.72 0 Nucleus NA PE1 6 +NX_P09237 267 29677 7.73 0 Cytoplasmic vesicle;Nucleoplasm;Extracellular matrix NA PE1 11 +NX_P09238 476 54151 5.49 0 Cytosol;Cell membrane;Extracellular matrix NA PE1 11 +NX_P09326 243 27683 8.34 0 Cytosol;Nucleolus;Cell membrane NA PE1 1 +NX_P09327 827 92695 5.99 0 Ruffle;Microvillus;Filopodium tip;Cell membrane;Filopodium;Lamellipodium;Cytoskeleton NA PE1 2 +NX_P09341 107 11301 10.46 0 Secreted NA PE1 4 +NX_P09382 135 14716 5.33 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Extracellular matrix NA PE1 22 +NX_P09417 244 25790 6.9 0 Mitochondrion Hyperphenylalaninemia, BH4-deficient, C PE1 4 +NX_P09429 215 24894 5.62 0 Endoplasmic reticulum-Golgi intermediate compartment;Endosome;Secreted;Cytoplasm;Cell membrane;Nucleus;Chromosome NA PE1 13 +NX_P09430 55 6424 12.09 0 Nucleus;Chromosome NA PE1 2 +NX_P09455 135 15850 4.99 0 Nucleoplasm;Cytoplasm;Lipid droplet;Cytosol NA PE1 3 +NX_P09466 180 20624 5.36 0 Secreted NA PE1 9 +NX_P09467 338 36842 6.54 0 Mitochondrion Fructose-1,6-bisphosphatase deficiency PE1 9 +NX_P09471 354 40051 5.34 0 Cell membrane;Membrane Neurodevelopmental disorder with involuntary movements;Epileptic encephalopathy, early infantile, 17 PE1 16 +NX_P09486 303 34632 4.73 0 Basement membrane Osteogenesis imperfecta 17 PE1 5 +NX_P09488 218 25712 6.24 0 Cytoplasm NA PE1 1 +NX_P09493 284 32709 4.69 0 Cytoplasm;Cytoskeleton Left ventricular non-compaction 9;Cardiomyopathy, dilated 1Y;Cardiomyopathy, familial hypertrophic 3 PE1 15 +NX_P09496 248 27077 4.43 0 Endosome;Lysosome;Cytoplasmic vesicle;Coated pit;Spindle;Cytoplasmic vesicle membrane NA PE1 9 +NX_P09497 229 25190 4.57 0 Cytosol;Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Coated pit;Cell membrane NA PE1 5 +NX_P09525 319 35883 5.84 0 Cytosol NA PE1 2 +NX_P09529 407 45122 8.35 0 Secreted NA PE1 2 +NX_P09543 421 47579 9.17 0 Cytosol;Nucleus;Melanosome;Membrane NA PE1 17 +NX_P09544 360 40418 9.06 0 Cytoplasmic vesicle;Secreted;Extracellular matrix NA PE1 7 +NX_P09564 240 25409 6.87 1 Membrane NA PE1 17 +NX_P09565 113 12087 9.65 0 NA NA PE1 11 +NX_P09601 288 32819 7.89 0 Endoplasmic reticulum membrane;Golgi apparatus;Microsome;Cell membrane Heme oxygenase 1 deficiency PE1 22 +NX_P09603 554 60179 5.16 1 Extracellular space;Cell membrane NA PE1 1 +NX_P09619 1106 123968 4.88 1 Cytoplasmic vesicle;Lysosome lumen;Cell membrane;Golgi apparatus Myofibromatosis, infantile 1;Kosaki overgrowth syndrome;Leukemia, acute myelogenous;Leukemia, juvenile myelomonocytic;Premature aging syndrome, Penttinen type;Myeloproliferative disorder chronic with eosinophilia;Basal ganglia calcification, idiopathic, 4 PE1 5 +NX_P09622 509 54177 7.95 0 Mitochondrion matrix;Nucleus;Mitochondrion;Flagellum;Acrosome Dihydrolipoamide dehydrogenase deficiency PE1 7 +NX_P09629 217 24015 8.83 0 Cytosol;Nucleoplasm;Nucleus NA PE1 17 +NX_P09630 235 26915 9.18 0 Nucleoplasm;Cytosol;Nucleus NA PE1 12 +NX_P09651 372 38747 9.17 0 Cytoplasm;Nucleus Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3;Amyotrophic lateral sclerosis 20 PE1 12 +NX_P09661 255 28416 8.71 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 15 +NX_P09668 335 37394 8.35 0 Cytosol;Cytoplasmic vesicle;Lysosome NA PE1 15 +NX_P09669 75 8781 10.38 1 Mitochondrion;Mitochondrion inner membrane NA PE1 8 +NX_P09681 153 17108 7.8 0 Secreted NA PE1 17 +NX_P09683 121 13016 11.27 0 Secreted NA PE1 11 +NX_P09693 182 20469 8.6 1 Cell membrane Immunodeficiency 17 PE1 11 +NX_P09758 323 35709 9.14 1 Cytoplasmic vesicle;Nucleolus;Cell membrane;Membrane Corneal dystrophy, gelatinous drop-like PE1 1 +NX_P09769 529 59479 5.41 0 Cytosol;Cell membrane;Mitochondrion inner membrane;Ruffle membrane;Mitochondrion intermembrane space;Cytoskeleton NA PE1 1 +NX_P09848 1927 218587 5.9 1 Apical cell membrane Congenital lactase deficiency PE1 2 +NX_P09871 688 76684 4.86 0 Cytosol;Nucleus Complement component C1s deficiency;Ehlers-Danlos syndrome, periodontal type, 2 PE1 12 +NX_P09874 1014 113084 8.99 0 Nucleolus;Nucleus NA PE1 1 +NX_P09884 1462 165913 5.61 0 Cytosol;Nucleoplasm;Nucleus Pigmentary disorder, reticulate, with systemic manifestations, X-linked PE1 X +NX_P09912 130 12927 5.27 4 Mitochondrion;Mitochondrion inner membrane NA PE1 1 +NX_P09913 472 54632 6.32 0 Cytoplasmic vesicle;Cytoplasm;Endoplasmic reticulum NA PE1 10 +NX_P09914 478 55360 6.75 0 Cytosol;Cytoplasm NA PE1 10 +NX_P09917 674 77983 5.51 0 Nucleoplasm;Cytoplasm;Nucleus matrix;Nucleus membrane NA PE1 10 +NX_P09919 207 22293 5.61 0 Secreted NA PE1 17 +NX_P09923 528 56812 5.53 0 Cell membrane NA PE1 2 +NX_P09936 223 24824 5.33 0 Cytosol;Cytoplasm;Endoplasmic reticulum membrane;Nucleoplasm Spastic paraplegia 79, autosomal recessive;Parkinson disease 5 PE1 4 +NX_P09958 794 86678 6.01 1 trans-Golgi network membrane;Golgi apparatus;Secreted;Nucleoplasm;Cell membrane;Endosome membrane NA PE1 15 +NX_P09960 611 69285 5.8 0 Cytosol;Nucleoplasm;Cytoplasm NA PE1 12 +NX_P09972 364 39456 6.41 0 Cytoplasmic vesicle;Cytosol;Nucleolus;Nucleus NA PE1 17 +NX_P0C024 238 26942 6.55 0 Nucleoplasm;Golgi apparatus;Peroxisome NA PE1 16 +NX_P0C025 328 35923 6.2 0 Cytosol;Centrosome NA PE1 1 +NX_P0C091 2139 238179 5.14 0 Extracellular matrix NA PE3 4 +NX_P0C0E4 278 31239 9.64 0 Mitochondrion;Cytoplasm;Membrane Mental retardation, X-linked, syndromic, Martin-Probst type PE1 X +NX_P0C0L4 1744 192785 6.66 0 Axon;Dendrite;Synapse;Secreted Systemic lupus erythematosus;Complement component 4A deficiency PE1 6 +NX_P0C0L5 1744 192751 6.89 0 Axon;Dendrite;Synapse;Secreted Systemic lupus erythematosus;Complement component 4B deficiency PE1 6 +NX_P0C0P6 89 10103 10.3 0 Secreted NA PE3 10 +NX_P0C0S5 128 13553 10.58 0 Nucleoplasm;Nucleus;Chromosome NA PE1 4 +NX_P0C0S8 130 14091 10.9 0 Nucleus;Chromosome NA PE1 6 +NX_P0C1H6 154 17001 10.08 0 Nucleus;Chromosome NA PE1 X +NX_P0C1S8 567 62925 6.06 0 Nucleoplasm;Cytosol;Nucleus Oocyte maturation defect 5 PE1 7 +NX_P0C1Z6 253 28278 5.19 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE1 19 +NX_P0C221 793 93626 6.34 0 Cytosol;Nucleolus;Nucleus NA PE1 14 +NX_P0C263 348 38088 5.3 0 NA NA PE1 19 +NX_P0C264 359 38488 4.71 0 Mitochondrion NA PE1 19 +NX_P0C2L3 166 18190 4.86 1 Cytosol;Nucleus;Cell membrane;Membrane NA PE1 9 +NX_P0C2S0 81 8980 4.36 1 Membrane NA PE3 15 +NX_P0C2W1 286 30633 8.01 0 Cytosol;Postsynaptic cell membrane;Presynaptic cell membrane NA PE1 3 +NX_P0C2W7 299 31319 4.11 0 NA NA PE1 X +NX_P0C2Y1 421 48090 4.73 0 Cytoplasm NA PE5 1 +NX_P0C5J1 330 36771 5.85 0 NA NA PE1 8 +NX_P0C5K6 33 3500 9.5 0 NA NA PE5 X +NX_P0C5K7 136 15412 9.08 0 NA NA PE2 15 +NX_P0C5Y4 121 12324 6.14 0 NA NA PE2 17 +NX_P0C5Y9 115 12697 10.67 0 Nucleus;Chromosome NA PE1 X +NX_P0C5Z0 115 12713 10.67 0 Nucleus;Chromosome NA PE1 X +NX_P0C604 315 35621 7.93 7 Cell membrane NA PE3 11 +NX_P0C617 328 36816 7.52 7 Cell membrane NA PE3 11 +NX_P0C623 307 34733 8.63 7 Cell membrane NA PE3 14 +NX_P0C626 314 35647 8.86 7 Cell membrane NA PE3 11 +NX_P0C628 307 34762 9.22 7 Cell membrane NA PE3 3 +NX_P0C629 311 34891 9.2 7 Cell membrane NA PE3 1 +NX_P0C645 315 35737 8.58 7 Cell membrane NA PE3 14 +NX_P0C646 298 33382 8.97 7 Cell membrane NA PE3 11 +NX_P0C671 652 71930 8.7 0 NA NA PE1 6 +NX_P0C672 248 28460 7.55 3 Membrane NA PE5 12 +NX_P0C6A0 271 29628 9.34 0 Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_P0C6C1 535 58256 9.15 0 Mitochondrion NA PE3 15 +NX_P0C6P0 100 11233 8.77 0 NA NA PE5 15 +NX_P0C6S8 592 64881 8.94 1 Mitochondrion;Membrane NA PE1 19 +NX_P0C6T2 37 4193 6.52 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 2 +NX_P0C7A2 387 43591 4.71 0 NA NA PE2 5 +NX_P0C7H8 128 13480 8.32 0 NA NA PE1 17 +NX_P0C7H9 530 59751 8.09 0 Nucleus;Endoplasmic reticulum NA PE3 8 +NX_P0C7I0 530 59635 7.3 0 Nucleus;Endoplasmic reticulum NA PE3 8 +NX_P0C7I6 297 33695 5.64 0 Nucleoplasm;Cytosol;Nucleus NA PE1 19 +NX_P0C7L1 97 10821 4.9 0 Secreted NA PE2 3 +NX_P0C7M3 94 10526 6.81 0 Cytoplasm;Secreted NA PE1 14 +NX_P0C7M4 288 31637 4.52 0 Nucleus NA PE1 X +NX_P0C7M6 154 18251 10.51 0 NA NA PE1 3 +NX_P0C7M7 580 65703 8.84 0 Mitochondrion matrix NA PE1 12 +NX_P0C7M8 214 23927 6.83 1 Membrane NA PE1 7 +NX_P0C7N1 319 36334 8.77 7 Cell membrane NA PE3 11 +NX_P0C7N4 346 39065 8.39 1 Membrane NA PE2 22 +NX_P0C7N5 309 35054 8.4 7 Cell membrane NA PE3 11 +NX_P0C7N8 305 34020 8.1 7 Cell membrane NA PE3 11 +NX_P0C7P0 127 14216 10.56 0 Mitochondrion NA PE1 17 +NX_P0C7P1 496 55775 9.95 0 Nucleus NA PE2 Y +NX_P0C7P2 107 11739 10.07 0 NA NA PE2 22 +NX_P0C7P3 912 103907 8.57 0 Nucleus Bleeding disorder, platelet-type 20 PE1 17 +NX_P0C7P4 283 30815 9.04 0 NA NA PE5 22 +NX_P0C7Q2 107 11437 9.03 0 Cytoplasm Macular degeneration, age-related, 8 PE1 10 +NX_P0C7Q5 338 35378 6.77 7 Membrane NA PE5 18 +NX_P0C7Q6 338 35103 6.11 9 Membrane NA PE2 17 +NX_P0C7T2 308 34287 8.56 7 Cell membrane NA PE3 1 +NX_P0C7T3 313 35317 9.02 7 Cell membrane NA PE3 11 +NX_P0C7T4 53 6023 5.01 0 NA NA PE1 18 +NX_P0C7T5 689 73306 6.13 0 Dendrite;Nucleus NA PE1 16 +NX_P0C7T7 363 38799 11.74 0 NA NA PE5 14 +NX_P0C7T8 217 23522 6.71 4 Membrane NA PE2 14 +NX_P0C7U0 828 90477 8.67 1 Nucleoplasm;Dendrite;Cell junction;Membrane NA PE1 7 +NX_P0C7U1 165 19025 9.1 0 NA NA PE2 10 +NX_P0C7U3 371 41895 8.88 5 Membrane NA PE3 5 +NX_P0C7U9 286 31739 10.05 2 Membrane NA PE2 8 +NX_P0C7V0 271 29146 11.35 0 NA NA PE5 6 +NX_P0C7V4 464 49895 9.95 0 NA NA PE5 8 +NX_P0C7V6 817 87541 9.02 0 NA NA PE5 X +NX_P0C7V7 166 19160 9.66 1 Membrane NA PE5 8 +NX_P0C7V8 631 71191 4.64 0 NA NA PE1 X +NX_P0C7V9 234 26716 5.61 0 NA NA PE5 3 +NX_P0C7W0 189 20715 4.83 0 NA NA PE2 17 +NX_P0C7W6 258 31035 5.01 0 Cytoplasm;Cilium NA PE1 10 +NX_P0C7W8 464 49853 9.95 0 NA NA PE5 8 +NX_P0C7W9 464 49953 9.9 0 NA NA PE5 8 +NX_P0C7X0 464 49829 9.95 0 NA NA PE5 8 +NX_P0C7X1 549 62219 9.2 0 Cell membrane NA PE2 17 +NX_P0C7X2 276 30575 9.42 0 Nucleoplasm;Nucleus;Cell junction;Cell membrane NA PE1 16 +NX_P0C7X3 344 39078 7.28 0 NA NA PE3 16 +NX_P0C7X4 201 22644 6.65 0 NA NA PE5 X +NX_P0C7X5 589 67808 8.76 0 Nucleus NA PE3 2 +NX_P0C841 47 5233 6.01 0 NA NA PE5 8 +NX_P0C842 121 13547 4.49 0 NA NA PE5 10 +NX_P0C843 101 12082 10.05 0 NA NA PE5 9 +NX_P0C851 137 15334 9.86 2 Cytosol;Cell membrane;Membrane NA PE2 17 +NX_P0C853 105 11579 5.82 0 NA NA PE5 8 +NX_P0C854 216 23602 10.5 0 Secreted NA PE5 22 +NX_P0C860 447 51070 8.6 0 Nucleus NA PE5 2 +NX_P0C862 333 34681 8.59 0 Secreted NA PE1 13 +NX_P0C864 163 16785 10.29 0 NA NA PE5 4 +NX_P0C866 280 30847 5.49 0 NA NA PE5 1 +NX_P0C869 781 87978 5.64 0 Cytosol;Early endosome membrane;Mitochondrion membrane NA PE1 15 +NX_P0C870 316 35932 5.22 0 NA NA PE1 15 +NX_P0C874 917 102419 8.32 1 Membrane NA PE2 9 +NX_P0C875 324 38070 8.89 0 Golgi apparatus NA PE1 2 +NX_P0C879 139 14498 12 0 NA NA PE5 10 +NX_P0C880 135 14177 11.84 0 NA NA PE5 20 +NX_P0C881 870 100635 7.16 0 NA NA PE2 7 +NX_P0C8F1 98 11407 8.97 0 Acrosome;Secreted NA PE1 11 +NX_P0CAP1 466 54206 5.91 0 I band;Cytoskeleton;Z line;Cell junction;Cell membrane NA PE1 15 +NX_P0CAP2 368 41740 6.01 0 Nucleus;Nucleus envelope NA PE1 15 +NX_P0CAT3 122 13375 10.82 0 NA NA PE5 10 +NX_P0CB33 412 47565 9.31 0 Nucleus NA PE5 7 +NX_P0CB38 370 41854 9.53 0 NA NA PE1 4 +NX_P0CB47 393 46134 9.52 0 Cytoplasm;Nucleus NA PE3 11 +NX_P0CB48 400 46551 9.11 0 Nucleus NA PE5 2 +NX_P0CE67 100 11337 9.02 0 NA NA PE4 3 +NX_P0CE71 109 12129 4.11 0 NA NA PE5 7 +NX_P0CE72 109 12184 4.19 0 NA NA PE1 7 +NX_P0CF51 173 19804 7.7 1 Cell membrane NA PE1 7 +NX_P0CF74 106 11277 6.91 0 Cell membrane;Secreted NA PE1 22 +NX_P0CF75 366 40313 7 0 NA NA PE2 10 +NX_P0CF97 657 76034 8.33 0 NA NA PE2 4 +NX_P0CG00 497 56244 8.95 0 Nucleus NA PE5 11 +NX_P0CG01 181 20221 8.64 0 Secreted NA PE3 2 +NX_P0CG04 106 11348 7.89 0 Cell membrane;Secreted NA PE1 22 +NX_P0CG08 455 52917 9.34 9 Golgi apparatus membrane;Endoplasmic reticulum NA PE1 1 +NX_P0CG12 524 51391 12.42 0 Nucleoplasm;Nucleus NA PE1 16 +NX_P0CG13 121 13314 7.9 0 Nucleus NA PE1 16 +NX_P0CG20 571 59354 9.16 0 NA NA PE2 16 +NX_P0CG21 123 12631 4.78 0 NA NA PE2 16 +NX_P0CG22 281 30608 9.81 0 NA NA PE5 14 +NX_P0CG23 659 74878 5.19 0 Nucleolus NA PE1 7 +NX_P0CG24 379 43967 9.03 0 Nucleus NA PE2 9 +NX_P0CG29 244 27506 6.53 0 Cytoplasm NA PE1 22 +NX_P0CG30 244 27507 5.99 0 Cytoplasm NA PE1 22 +NX_P0CG31 522 59572 8.7 0 Cytosol;Nucleus speckle;Nucleus NA PE5 17 +NX_P0CG32 403 45160 7.02 0 NA NA PE3 X +NX_P0CG33 693 79896 5.37 0 NA NA PE2 15 +NX_P0CG34 45 5229 5.31 0 Cytoskeleton NA PE1 X +NX_P0CG35 45 5229 5.31 0 Cytoskeleton NA PE1 X +NX_P0CG36 223 24642 9.04 0 Secreted NA PE3 2 +NX_P0CG37 223 24612 9.14 0 Cell membrane;Secreted Heterotaxy, visceral, 2, autosomal PE1 2 +NX_P0CG38 1075 121282 5.83 0 NA NA PE1 2 +NX_P0CG39 1038 117390 5.66 0 NA NA PE1 2 +NX_P0CG40 484 48915 9.05 0 Mitochondrion;Nucleus NA PE1 2 +NX_P0CG41 777 88077 5.23 1 Membrane NA PE2 7 +NX_P0CG42 384 43129 11.41 0 NA NA PE3 9 +NX_P0CG43 387 43408 11.19 0 NA NA PE3 16 +NX_P0CG47 229 25762 6.86 0 Cytoplasm;Nucleus NA PE1 17 +NX_P0CG48 685 77039 7.16 0 Cytoplasm;Nucleus NA PE1 12 +NX_P0CH98 169 18676 5.62 0 NA NA PE5 17 +NX_P0CH99 300 34712 9.14 0 Nucleus NA PE2 8 +NX_P0CI00 300 34732 9.08 0 Nucleus NA PE5 8 +NX_P0CI01 402 48330 9.78 0 NA NA PE3 7 +NX_P0CI25 452 52888 7.53 0 NA NA PE2 11 +NX_P0CI26 452 52933 7.28 0 NA NA PE2 11 +NX_P0CJ68 24 2691 9.49 0 Cytoplasm;Secreted NA PE2 17 +NX_P0CJ69 28 3081 7.98 0 Cytoplasm;Secreted NA PE2 5 +NX_P0CJ70 24 2796 10.69 0 Cytoplasm;Secreted NA PE2 20 +NX_P0CJ71 28 3247 9.19 0 Cytoplasm;Secreted NA PE2 16 +NX_P0CJ72 24 2666 7.98 0 Cytoplasm;Secreted NA PE2 10 +NX_P0CJ73 24 2719 9.49 0 Cytoplasm;Secreted NA PE2 7 +NX_P0CJ74 24 2647 7.98 0 Cytoplasm;Secreted NA PE2 10 +NX_P0CJ75 24 2661 9.49 0 Cytoplasm;Secreted NA PE2 11 +NX_P0CJ76 24 2694 11.54 0 Cytoplasm;Secreted NA PE2 6 +NX_P0CJ77 24 2806 10.69 0 Cytoplasm;Secreted NA PE2 X +NX_P0CJ78 1059 111077 9.4 0 Nucleolus;Nucleus NA PE1 19 +NX_P0CJ79 718 83549 9.33 0 Nucleus NA PE1 19 +NX_P0CJ85 424 44926 8.72 0 Nucleus NA PE3 4 +NX_P0CJ86 424 44926 8.72 0 Nucleus NA PE3 4 +NX_P0CJ87 422 44826 8.36 0 Nucleus NA PE3 4 +NX_P0CJ88 424 44926 8.72 0 Nucleus NA PE3 4 +NX_P0CJ89 424 44926 8.72 0 Nucleus NA PE3 4 +NX_P0CJ90 424 44926 8.72 0 Nucleus NA PE3 4 +NX_P0CJ92 632 71342 8.15 0 NA NA PE3 15 +NX_P0CK96 405 43777 8.65 10 Membrane NA PE1 1 +NX_P0CK97 266 29079 8.28 4 Nucleus;Membrane NA PE2 1 +NX_P0CL80 117 12978 4.3 0 NA NA PE3 X +NX_P0CL81 117 12978 4.3 0 NA NA PE3 X +NX_P0CL82 117 12978 4.3 0 NA NA PE1 X +NX_P0CL83 205 23775 7.61 0 Nucleus NA PE5 7 +NX_P0CL84 134 15630 8.27 0 Nucleus NA PE5 7 +NX_P0CL85 134 15609 7.57 0 Nucleus NA PE2 7 +NX_P0CV98 308 35101 5.23 0 NA NA PE3 Y +NX_P0CV99 314 35727 5.12 0 NA NA PE2 Y +NX_P0CW00 308 35147 5.16 0 NA NA PE3 Y +NX_P0CW01 308 35101 5.23 0 NA NA PE3 Y +NX_P0CW18 603 64597 9.15 0 NA Microphthalmia, isolated, 6 PE1 2 +NX_P0CW19 117 13251 5.38 0 Cytoplasm NA PE2 2 +NX_P0CW20 117 13251 5.38 0 NA NA PE1 2 +NX_P0CW21 52 6167 9.69 0 NA NA PE5 13 +NX_P0CW23 69 7848 6.73 0 NA NA PE1 18 +NX_P0CW24 399 43875 5.24 0 Mitochondrion;Nucleolus NA PE1 X +NX_P0CW27 439 48709 10.6 0 NA NA PE1 8 +NX_P0CZ25 163 17537 9.57 0 NA NA PE2 12 +NX_P0DH78 156 16549 7.43 0 NA NA PE4 9 +NX_P0DI80 62 7017 3.72 1 Nucleus;Membrane NA PE2 17 +NX_P0DI81 140 16445 6.02 0 Endoplasmic reticulum-Golgi intermediate compartment;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Perinuclear region;Nucleus Spondyloepiphyseal dysplasia tarda PE1 X +NX_P0DI82 140 16445 6.02 0 Endoplasmic reticulum-Golgi intermediate compartment;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Perinuclear region;Nucleus NA PE1 19 +NX_P0DI83 198 21118 12.15 0 Nucleolus;Nucleus NA PE1 17 +NX_P0DJ07 73 9114 6.31 1 Nucleoplasm;Mitochondrion;Membrane NA PE1 19 +NX_P0DJ93 91 10351 6.17 1 Nucleus;Nucleus membrane;Golgi apparatus;Membrane NA PE1 6 +NX_P0DJD0 1748 196662 5.8 0 NA NA PE2 2 +NX_P0DJD1 1756 197308 5.85 0 NA NA PE1 2 +NX_P0DJD3 496 55784 9.95 0 Nucleus NA PE1 Y +NX_P0DJD4 496 55784 9.93 0 Nucleus NA PE1 Y +NX_P0DJD7 388 41977 4.16 0 Secreted NA PE1 11 +NX_P0DJD8 388 41976 4.22 0 Secreted NA PE1 11 +NX_P0DJD9 388 41993 4.21 0 Secreted NA PE1 11 +NX_P0DJG4 465 53028 9.33 0 NA NA PE1 4 +NX_P0DJH9 198 23209 5.98 0 NA NA PE2 14 +NX_P0DJI8 122 13532 6.28 0 Secreted NA PE1 11 +NX_P0DJI9 122 13527 9.2 0 Secreted NA PE1 11 +NX_P0DJJ0 459 53484 5.98 0 NA NA PE1 1 +NX_P0DJR0 217 24463 8.18 0 NA NA PE2 4 +NX_P0DKB5 382 40400 8.64 1 Membrane NA PE1 11 +NX_P0DKB6 136 15138 9.95 2 Membrane NA PE1 X +NX_P0DKL9 152 17712 8.71 0 NA NA PE4 5 +NX_P0DKV0 1188 130522 9.52 1 Membrane NA PE5 9 +NX_P0DKX0 622 71801 9.32 0 NA NA PE2 19 +NX_P0DKX4 95 11088 6.7 1 Nucleus;Centrosome;Membrane NA PE2 8 +NX_P0DL12 118 13332 4.56 1 Cytoplasmic vesicle;Membrane NA PE4 19 +NX_P0DM35 61 6094 8.75 0 NA NA PE3 1 +NX_P0DM63 369 42230 9.22 0 NA NA PE2 16 +NX_P0DMB1 279 31050 6.08 0 NA NA PE2 8 +NX_P0DMB2 117 13372 9.81 0 NA NA PE1 8 +NX_P0DMC3 54 6622 12.22 0 Extracellular space;Secreted NA PE1 4 +NX_P0DME0 302 34882 4.2 0 Cytoplasm;Nucleus NA PE1 1 +NX_P0DML2 217 25020 5.34 0 Secreted NA PE1 17 +NX_P0DML3 217 24994 5.34 0 Secreted NA PE1 17 +NX_P0DMM9 295 34196 5.68 0 Cytoplasm NA PE1 16 +NX_P0DMN0 295 34196 5.68 0 Cytoplasm NA PE1 16 +NX_P0DMP1 27 2961 9.49 0 Cytoplasm;Secreted NA PE2 3 +NX_P0DMP2 458 53406 6.46 0 NA NA PE2 1 +NX_P0DMQ5 153 15439 9.3 1 Membrane NA PE1 15 +NX_P0DMQ9 161 18160 9.49 0 NA NA PE2 8 +NX_P0DMR1 293 32029 5.48 0 Nucleus NA PE1 1 +NX_P0DMR2 95 10457 4.7 0 Secreted NA PE3 17 +NX_P0DMR3 200 22759 8.47 0 Cytoplasm NA PE5 13 +NX_P0DMS8 318 36185 9.11 7 Cell membrane NA PE1 1 +NX_P0DMS9 266 30327 8.9 2 Membrane NA PE1 1 +NX_P0DMT0 46 5194 5.97 1 Sarcoplasmic reticulum membrane NA PE2 10 +NX_P0DMU2 310 34506 7.57 7 Cell membrane NA PE5 11 +NX_P0DMU3 169 18266 8.91 0 NA NA PE3 1 +NX_P0DMU4 169 18266 8.91 0 NA NA PE5 1 +NX_P0DMU5 169 18266 8.91 0 NA NA PE3 1 +NX_P0DMU7 189 21232 9.72 0 NA NA PE2 X +NX_P0DMU8 189 21232 9.72 0 NA NA PE2 X +NX_P0DMU9 189 21145 9.61 0 NA NA PE1 X +NX_P0DMV0 189 21232 9.72 0 NA NA PE3 X +NX_P0DMV1 189 21363 9.67 0 NA NA PE3 X +NX_P0DMV2 189 21363 9.67 0 NA NA PE3 X +NX_P0DMV8 641 70052 5.48 0 Cytoplasm;Nucleus;Centrosome NA PE1 6 +NX_P0DMV9 641 70052 5.48 0 Cytoplasm;Centrosome NA PE1 6 +NX_P0DMW2 45 4993 5.92 0 Cytoplasm;Nucleus NA PE2 X +NX_P0DMW3 68 7391 10.02 0 NA NA PE1 12 +NX_P0DMW4 78 8389 11.25 0 NA NA PE2 X +NX_P0DMW5 78 8389 11.25 0 NA NA PE2 X +NX_P0DN24 101 10933 7.77 0 NA NA PE1 3 +NX_P0DN25 315 36396 5.41 1 Membrane NA PE2 2 +NX_P0DN26 164 18197 9.43 0 Cytoplasm NA PE3 1 +NX_P0DN37 164 18166 9.19 0 Cytoplasm NA PE3 1 +NX_P0DN76 240 27872 9.09 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 21 +NX_P0DN77 364 40584 8.9 7 Cell membrane NA PE3 X +NX_P0DN78 364 40584 8.9 7 Cell membrane NA PE3 X +NX_P0DN79 551 60587 6.2 0 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus NA PE1 21 +NX_P0DN80 308 34772 7.05 7 Cell membrane NA PE3 3 +NX_P0DN81 318 34899 9.01 7 Cell membrane NA PE3 9 +NX_P0DN82 309 35330 9.29 7 Cell membrane NA PE3 6 +NX_P0DN84 34 3765 6.5 1 Sarcoplasmic reticulum membrane NA PE2 3 +NX_P0DN86 165 17739 8.49 0 Secreted NA PE1 19 +NX_P0DN87 165 17757 8.66 0 Secreted NA PE2 19 +NX_P0DO92 83 9002 8.53 0 NA NA PE4 16 +NX_P0DO97 292 32479 4.98 0 NA NA PE1 5 +NX_P0DOY2 106 11294 6.91 0 Cell membrane;Secreted NA PE1 22 +NX_P0DOY3 106 11266 6.91 0 Cell membrane;Secreted NA PE1 22 +NX_P0DOY5 5 435 5.53 0 Cell membrane;Secreted NA PE4 14 +NX_P0DP01 117 12992 9.26 0 Cell membrane;Secreted NA PE1 14 +NX_P0DP02 117 12989 9.12 0 Cell membrane;Secreted NA PE3 14 +NX_P0DP03 117 12947 9.1 0 Cell membrane;Secreted NA PE3 14 +NX_P0DP04 118 13017 5.28 0 Cell membrane;Secreted NA PE3 14 +NX_P0DP06 118 13156 9.33 0 Cell membrane;Secreted NA PE3 14 +NX_P0DP07 118 13095 9.33 0 Cell membrane;Secreted NA PE1 14 +NX_P0DP08 117 13016 9.36 0 Cell membrane;Secreted NA PE1 14 +NX_P0DP09 117 12569 7.68 0 Cell membrane;Secreted NA PE1 2 +NX_P0DP23 149 16838 4.09 0 Spindle;Spindle pole;Centrosome Long QT syndrome 14;Ventricular tachycardia, catecholaminergic polymorphic, 4 PE1 14 +NX_P0DP24 149 16838 4.09 0 Spindle;Spindle pole;Centrosome Long QT syndrome 15 PE1 2 +NX_P0DP25 149 16838 4.09 0 Spindle;Spindle pole;Centrosome NA PE1 19 +NX_P0DP42 221 25027 5.35 4 Membrane NA PE1 7 +NX_P0DP57 97 10160 6.14 0 Secreted NA PE1 8 +NX_P0DP58 116 12641 8.04 0 Dendrite;Endoplasmic reticulum;Cell membrane NA PE1 8 +NX_P0DP71 79 8682 8.8 0 NA NA PE3 X +NX_P0DP72 767 81629 5.95 1 Membrane NA PE2 11 +NX_P0DP73 79 8736 9.47 0 Secreted NA PE2 8 +NX_P0DP74 79 8736 9.47 0 Secreted NA PE2 8 +NX_P0DP75 135 14289 12.24 0 NA NA PE5 X +NX_P0DP91 1061 119487 6.15 0 Nucleus Premature ovarian failure 11 PE1 10 +NX_P0DPA2 414 43891 6.84 1 Membrane NA PE1 1 +NX_P0DPA3 235 25086 9.42 0 Nucleoplasm NA PE5 1 +NX_P0DPB3 487 53480 4.98 0 Cytoplasm NA PE1 3 +NX_P0DPB5 122 14332 9.88 0 Nucleoplasm;Golgi apparatus NA PE1 13 +NX_P0DPB6 133 15237 5.55 0 Nucleus Treacher Collins syndrome 2 PE1 13 +NX_P0DPD5 513 59152 9.39 0 Nucleus NA PE3 19 +NX_P0DPD6 811 91211 5.19 1 Golgi apparatus membrane;Secretory vesicle membrane NA PE1 3 +NX_P0DPD7 255 28306 5.65 0 NA NA PE1 3 +NX_P0DPD8 883 99773 4.98 1 Golgi apparatus membrane;Secretory vesicle membrane NA PE1 3 +NX_P0DPE3 317 33577 9.29 1 Membrane NA PE3 12 +NX_P0DPE8 139 15007 8.6 1 Membrane NA PE2 21 +NX_P0DPF2 5207 595733 4.55 0 Cytoplasm NA PE2 1 +NX_P0DPF3 1111 127756 4.71 0 Cytoplasm NA PE2 1 +NX_P0DPF4 110 12305 4.64 0 Cell membrane NA PE3 14 +NX_P0DPF5 203 21517 5.13 0 NA NA PE2 2 +NX_P0DPF6 209 22074 4.78 0 NA NA PE2 2 +NX_P0DPF7 114 12525 8.38 0 Cell membrane NA PE1 7 +NX_P0DPH7 450 49960 4.98 0 Cytoskeleton NA PE1 13 +NX_P0DPH8 450 49960 4.98 0 Cytoskeleton Keratoconus 9 PE1 2 +NX_P0DPH9 108 12028 10.8 0 NA NA PE1 X +NX_P0DPI2 268 28170 8.5 0 Mitochondrion NA PE1 21 +NX_P0DPI3 272 29887 10.16 0 NA NA PE3 X +NX_P0DPI4 4 290 5.53 0 Cell membrane NA PE4 7 +NX_P0DPK2 136 15423 11.51 0 Nucleus;Chromosome NA PE1 5 +NX_P0DPK3 275 30097 5.44 0 Secreted NA PE1 1 +NX_P0DPK4 236 25835 5.44 0 Secreted NA PE1 1 +NX_P0DPK5 147 16466 11.39 0 Nucleus;Chromosome NA PE5 5 +NX_P0DPP9 59 6991 10.43 0 NA NA PE1 X +NX_P0DPQ3 210 21866 9.5 0 NA NA PE3 3 +NX_P0DPQ4 251 29214 8.7 0 NA NA PE3 21 +NX_P0DPQ6 34 4284 11.44 0 Cytoplasm;Nucleus NA PE1 12 +NX_P0DPR3 2 260 4 0 Cell membrane NA PE1 14 +NX_P10070 1586 167783 6.9 0 Cytoplasm;Nucleolus;Nucleus;Cilium Culler-Jones syndrome;Holoprosencephaly 9 PE1 2 +NX_P10071 1580 169863 7.02 0 Cytoplasm;Nucleus;Cilium Pallister-Hall syndrome;Polydactyly preaxial 4;Polydactyly, postaxial A1;Polydactyly, postaxial B;Greig cephalo-poly-syndactyly syndrome PE1 7 +NX_P10072 659 75128 9.44 0 Mitochondrion;Nucleoplasm;Nucleus;Golgi apparatus NA PE1 19 +NX_P10073 491 54561 7.36 0 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA PE1 19 +NX_P10074 688 77054 8.55 0 Nucleoplasm;Cytosol;Nucleus;Telomere NA PE1 1 +NX_P10075 376 41145 9.13 0 Cytoskeleton;Nucleus NA PE1 8 +NX_P10082 97 11145 7.88 0 Secreted NA PE1 17 +NX_P10092 127 13706 10.1 0 Secreted NA PE1 11 +NX_P10109 184 19393 5.51 0 Mitochondrion;Mitochondrion matrix NA PE1 11 +NX_P10114 183 20615 4.73 0 Recycling endosome membrane;Midbody NA PE1 13 +NX_P10124 158 17652 4.81 0 Extracellular space;Golgi apparatus;Cytoplasmic granule NA PE1 10 +NX_P10144 247 27716 9.62 0 Cytoplasmic granule NA PE1 14 +NX_P10145 99 11098 9.1 0 Secreted NA PE1 4 +NX_P10147 92 10085 4.77 0 Secreted NA PE1 17 +NX_P10153 161 18354 9.1 0 Cytoplasmic granule;Lysosome NA PE1 14 +NX_P10155 538 60671 8.27 0 Nucleoplasm;Cytosol;Cytoplasm NA PE1 1 +NX_P10163 310 31326 10.52 0 Secreted NA PE1 12 +NX_P10176 69 7579 10.26 1 Mitochondrion;Mitochondrion inner membrane NA PE1 11 +NX_P10242 640 72341 6.35 0 Nucleus;Cell membrane NA PE1 6 +NX_P10243 752 85887 6.69 0 Nucleus NA PE1 8 +NX_P10244 700 78764 6.43 0 Nucleoplasm;Cytosol;Nucleus NA PE1 20 +NX_P10253 952 105324 5.62 0 Lysosome membrane;Lysosome Glycogen storage disease 2 PE1 17 +NX_P10265 156 17108 5.86 0 NA NA PE1 5 +NX_P10266 1014 114827 9.11 0 NA NA PE3 5 +NX_P10275 920 99188 6.01 0 Mitochondrion;Cytoplasm;Nucleus Androgen insensitivity syndrome;Spinal and bulbar muscular atrophy X-linked 1;Androgen insensitivity, partial PE1 X +NX_P10276 462 50771 8.21 0 Cytosol;Cytoplasm;Nucleus NA PE1 17 +NX_P10301 218 23480 6.43 0 Cytoplasmic vesicle;Cell membrane NA PE1 19 +NX_P10314 365 41048 6.02 1 Membrane NA PE1 6 +NX_P10316 365 40977 6.42 1 Membrane NA PE1 6 +NX_P10319 362 40337 5.9 1 Membrane NA PE1 6 +NX_P10321 366 40649 5.71 1 Membrane NA PE1 6 +NX_P10323 421 45847 9.26 0 NA NA PE1 22 +NX_P10398 606 67585 9.2 0 Nucleolus;Nucleus NA PE1 X +NX_P10412 219 21865 11.03 0 Nucleus speckle;Nucleus;Chromosome Rahman syndrome PE1 6 +NX_P10415 239 26266 6.75 1 Endoplasmic reticulum membrane;Nucleoplasm;Nucleus membrane;Mitochondrion outer membrane NA PE1 18 +NX_P10451 314 35423 4.37 0 Golgi apparatus;Secreted NA PE1 4 +NX_P10515 647 68997 7.96 0 Mitochondrion matrix;Mitochondrion Pyruvate dehydrogenase E2 deficiency PE1 11 +NX_P10523 405 45120 6.14 0 Photoreceptor outer segment;Membrane Retinitis pigmentosa 47;Night blindness, congenital stationary, Oguchi type 1 PE1 2 +NX_P10586 1907 212879 5.92 1 Golgi apparatus;Membrane Aplasia or hypoplasia of the breasts and/or nipples 2 PE1 1 +NX_P10588 404 42979 7.96 0 Nucleus NA PE1 19 +NX_P10589 423 46156 8.62 0 Nucleus Bosch-Boonstra-Schaaf optic atrophy syndrome PE1 5 +NX_P10599 105 11737 4.82 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Secreted NA PE1 9 +NX_P10600 412 47328 8.31 0 Cytoplasmic vesicle;Secreted;Extracellular matrix Arrhythmogenic right ventricular dysplasia, familial, 1;Loeys-Dietz syndrome 5 PE1 14 +NX_P10606 129 13696 9.07 0 Mitochondrion;Mitochondrion inner membrane NA PE1 2 +NX_P10619 480 54466 6.16 0 Cytoplasmic vesicle;Lysosome Galactosialidosis PE1 20 +NX_P10620 155 17599 9.41 4 Endoplasmic reticulum membrane;Mitochondrion;Microsome;Endoplasmic reticulum;Mitochondrion outer membrane NA PE1 12 +NX_P10632 490 55825 8.8 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 10 +NX_P10635 497 55769 6.77 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 22 +NX_P10636 758 78928 6.25 0 Nucleus speckle;Cytosol;Cytoplasm;Cell membrane;Axon;Dendrite;Cytoskeleton Frontotemporal dementia;Parkinson-dementia syndrome;Pick disease of the brain;Progressive supranuclear palsy 1 PE1 17 +NX_P10643 843 93518 6.09 0 Secreted Complement component 7 deficiency PE1 5 +NX_P10644 381 42982 5.27 0 Cytosol;Cell membrane Primary pigmented nodular adrenocortical disease 1;Carney complex 1;Intracardiac myxoma;Acrodysostosis 1, with or without hormone resistance PE1 17 +NX_P10645 457 50688 4.58 0 Cytoplasmic vesicle;Secretory vesicle;Secretory vesicle lumen;Secretory vesicle membrane;Secreted NA PE1 14 +NX_P10646 304 35015 8.61 0 Cytosol;Microsome membrane;Cytoskeleton;Secreted NA PE1 2 +NX_P10696 532 57377 5.9 0 Cell membrane NA PE1 2 +NX_P10720 104 11553 9.3 0 Secreted NA PE1 4 +NX_P10721 976 109865 6.54 1 Cytoplasm;Cell membrane Piebald trait;Testicular germ cell tumor;Leukemia, acute myelogenous;Mastocytosis, cutaneous;Mastocytosis, systemic;Gastrointestinal stromal tumor PE1 4 +NX_P10745 1247 135363 4.98 0 Interphotoreceptor matrix Retinitis pigmentosa 66 PE1 10 +NX_P10746 265 28628 5.35 0 Cytosol;Nucleoplasm Congenital erythropoietic porphyria PE1 10 +NX_P10747 220 25066 9.46 1 Cell surface;Membrane NA PE1 2 +NX_P10767 208 22905 10 0 Extracellular space NA PE1 12 +NX_P10768 282 31463 6.54 0 Cytoplasmic vesicle;Cytoplasm;Cytosol;Golgi apparatus NA PE1 13 +NX_P10809 573 61055 5.7 0 Mitochondrion matrix;Mitochondrion Spastic paraplegia 13, autosomal dominant;Leukodystrophy, hypomyelinating, 4 PE1 2 +NX_P10826 455 50489 8.04 0 Nucleoplasm;Cytoplasm;Nucleus Microphthalmia, syndromic, 12 PE1 3 +NX_P10827 490 54816 6.42 0 Cytosol;Nucleus Hypothyroidism, congenital, non-goitrous, 6 PE1 17 +NX_P10828 461 52788 6.68 0 Nucleus Generalized thyroid hormone resistance;Generalized thyroid hormone resistance autosomal recessive;Selective pituitary thyroid hormone resistance PE1 3 +NX_P10909 449 52495 5.89 0 Secreted;Cytosol;Cytoplasm;Microsome;Endoplasmic reticulum;Nucleus;Mitochondrion membrane;Chromaffin granule NA PE1 8 +NX_P10911 925 107673 5.72 0 Cytoplasm;Membrane NA PE1 X +NX_P10912 638 71500 4.76 1 Cytosol;Cell membrane;Secreted Laron syndrome;Growth hormone insensitivity, partial PE1 5 +NX_P10914 325 36502 5.22 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Gastric cancer PE1 5 +NX_P10915 354 40166 7.1 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 5 +NX_P10916 166 18789 4.92 0 A band;Cytoskeleton Cardiomyopathy, familial hypertrophic 10 PE1 12 +NX_P10966 210 23722 10.03 1 Cell membrane;Secreted NA PE1 2 +NX_P10997 89 9806 9.83 0 Secreted NA PE1 12 +NX_P11021 654 72333 5.07 0 Cytosol;Cytoplasm;Endoplasmic reticulum lumen;Melanosome NA PE1 9 +NX_P11047 1609 177603 5.01 0 Basement membrane;Endoplasmic reticulum;Cell membrane NA PE1 1 +NX_P11049 281 31703 8.25 4 Membrane NA PE1 19 +NX_P11055 1940 223905 5.62 0 Myofibril Arthrogryposis, distal, 2A;Arthrogryposis, distal, 8;Arthrogryposis, distal, 2B PE1 17 +NX_P11086 282 30855 5.73 0 NA NA PE1 17 +NX_P11117 423 48344 6.28 1 Lysosome lumen;Lysosome membrane NA PE1 11 +NX_P11137 1827 199526 4.82 0 Cytosol;Dendrite;Cytoskeleton;Nucleolus NA PE1 2 +NX_P11142 646 70898 5.37 0 Cytoplasm;Nucleolus;Melanosome;Cell membrane NA PE1 11 +NX_P11150 499 55914 9.22 0 Secreted Hepatic lipase deficiency PE1 15 +NX_P11161 476 50302 9.02 0 Nucleoplasm;Nucleus Neuropathy, congenital hypomyelinating or amyelinating;Charcot-Marie-Tooth disease 1D;Dejerine-Sottas syndrome PE1 10 +NX_P11166 492 54084 8.93 12 Melanosome;Cell membrane Stomatin-deficient cryohydrocytosis with neurologic defects;GLUT1 deficiency syndrome 1;Dystonia 9;Epilepsy, idiopathic generalized 12;GLUT1 deficiency syndrome 2 PE1 1 +NX_P11168 524 57490 8.09 12 Nucleoplasm;Membrane Fanconi-Bickel syndrome PE1 3 +NX_P11169 496 53924 6.84 12 Cell projection;Perikaryon;Cell membrane NA PE1 12 +NX_P11171 864 97017 5.42 0 Cytosol;Cell cortex;Cell membrane;Nucleus;Cytoskeleton;Cell junction Elliptocytosis 1 PE1 1 +NX_P11172 480 52222 6.81 0 Cytosol Orotic aciduria 1 PE1 3 +NX_P11177 359 39233 6.2 0 Mitochondrion;Cytoplasm;Mitochondrion matrix;Nucleoplasm Pyruvate dehydrogenase E1-beta deficiency PE1 3 +NX_P11182 482 53487 8.71 0 Mitochondrion matrix;Mitochondrion Maple syrup urine disease 2 PE1 1 +NX_P11215 1152 127179 6.88 1 Membrane raft;Cell membrane Systemic lupus erythematosus 6 PE1 16 +NX_P11216 843 96696 6.4 0 Cytosol NA PE1 20 +NX_P11217 842 97092 6.57 0 NA Glycogen storage disease 5 PE1 11 +NX_P11226 248 26144 5.39 0 Secreted NA PE1 10 +NX_P11229 460 51421 9.45 7 Cytosol;Postsynaptic cell membrane;Nucleus;Cell membrane NA PE1 11 +NX_P11230 501 56698 5.5 4 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, 2A, slow-channel PE1 17 +NX_P11233 206 23567 6.66 0 Midbody ring;Cleavage furrow;Cell membrane NA PE1 7 +NX_P11234 206 23409 6.24 0 Midbody;Cell membrane NA PE1 2 +NX_P11245 290 33542 5.6 0 Cytoplasm NA PE1 8 +NX_P11274 1271 142819 6.62 0 Cytosol;Postsynaptic density;Nucleoplasm Leukemia, chronic myeloid PE1 22 +NX_P11277 2137 246468 5.15 0 Cytosol;Cytoskeleton;Cell cortex;Golgi apparatus Spherocytosis 2;Elliptocytosis 3 PE1 14 +NX_P11279 417 44882 9 1 Endosome membrane;Lysosome membrane;Late endosome;Cell membrane NA PE1 13 +NX_P11308 486 54608 7.01 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Ewing sarcoma PE1 21 +NX_P11309 313 35686 5.72 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cell membrane NA PE1 6 +NX_P11310 421 46588 8.61 0 Mitochondrion matrix;Mitochondrion Acyl-CoA dehydrogenase medium-chain deficiency PE1 1 +NX_P11362 822 91868 5.82 1 Cytoplasmic vesicle;Cytosol;Nucleolus;Nucleus;Cell membrane Encephalocraniocutaneous lipomatosis;Pfeiffer syndrome;Hartsfield syndrome;Trigonocephaly 1;Jackson-Weiss syndrome;Hypogonadotropic hypogonadism 2 with or without anosmia;Osteoglophonic dysplasia PE1 8 +NX_P11387 765 90726 9.33 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 20 +NX_P11388 1531 174385 8.82 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA PE1 17 +NX_P11413 515 59257 6.39 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Microtubule organizing center Anemia, non-spherocytic hemolytic, due to G6PD deficiency PE1 X +NX_P11441 157 17777 8.71 0 Cytosol;Nucleoplasm;Nucleus NA PE1 X +NX_P11464 419 47223 8.32 0 Secreted NA PE1 19 +NX_P11465 335 37216 7.66 0 Secreted NA PE1 19 +NX_P11473 427 48289 6.08 0 Nucleoplasm;Cytoplasm;Nucleus Rickets vitamin D-dependent 2A PE1 12 +NX_P11474 423 45510 6.01 0 Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA PE1 11 +NX_P11487 239 26887 10.88 0 Secreted Deafness with labyrinthine aplasia, microtia and microdontia PE1 11 +NX_P11488 350 40041 5.4 0 Photoreceptor outer segment;Membrane Night blindness, congenital stationary, 1G;Night blindness, congenital stationary, autosomal dominant 3 PE1 3 +NX_P11498 1178 129634 6.37 0 Mitochondrion;Mitochondrion matrix Pyruvate carboxylase deficiency PE1 11 +NX_P11509 494 56501 9.25 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 19 +NX_P11511 503 57883 7.2 0 Mitochondrion;Endoplasmic reticulum;Membrane Aromatase deficiency;Aromatase excess syndrome PE1 15 +NX_P11532 3685 426750 5.64 0 Cytoskeleton;Postsynaptic cell membrane;Sarcolemma Becker muscular dystrophy;Cardiomyopathy, dilated, X-linked 3B;Duchenne muscular dystrophy PE1 X +NX_P11586 935 101559 6.89 0 Cytosol;Cytoplasm Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia;Neural tube defects, folate-sensitive;Colorectal cancer PE1 14 +NX_P11597 493 54756 5.7 0 Extracellular space Hyperalphalipoproteinemia 1 PE1 16 +NX_P11678 715 81040 10.31 0 Cytoplasmic granule Eosinophil peroxidase deficiency PE1 17 +NX_P11684 91 9994 4.99 0 Secreted NA PE1 11 +NX_P11686 197 21053 6.19 0 Surface film Respiratory distress syndrome in premature infants;Pulmonary surfactant metabolism dysfunction 2 PE1 8 +NX_P11712 490 55628 8.13 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 10 +NX_P11717 2491 274375 5.64 1 Cytoplasmic vesicle;Lysosome membrane;Golgi apparatus NA PE1 6 +NX_P11766 374 39724 7.45 0 Cytoplasm NA PE1 4 +NX_P11801 424 48035 9.82 0 Endoplasmic reticulum membrane;Nucleus speckle;Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;Centrosome NA PE1 16 +NX_P11802 303 33730 6.52 0 Nucleolus;Nucleus membrane;Cytosol;Cytoplasm;Nucleus;Membrane Melanoma, cutaneous malignant 3 PE1 12 +NX_P11831 508 51593 7.83 0 Nucleus NA PE1 6 +NX_P11836 297 33077 5.04 4 Cell membrane Immunodeficiency, common variable, 5 PE1 11 +NX_P11844 174 20877 8.05 0 NA NA PE1 2 +NX_P11908 318 34769 6.15 0 NA NA PE1 X +NX_P11912 226 25038 4.87 1 Cell membrane Agammaglobulinemia 3, autosomal recessive PE1 19 +NX_P11926 461 51148 5.1 0 Cytosol;Cell membrane NA PE1 2 +NX_P11940 636 70671 9.52 0 Cytoplasm;Nucleus NA PE1 8 +NX_P12004 261 28769 4.57 0 Nucleoplasm;Nucleus Ataxia-telangiectasia-like disorder 2 PE1 20 +NX_P12018 145 16605 6.3 0 NA NA PE1 22 +NX_P12034 268 29551 10.54 0 Cytosol;Nucleolus;Nucleus;Secreted Trichomegaly PE1 4 +NX_P12035 628 64417 6.12 0 NA Corneal dystrophy, Meesmann PE1 12 +NX_P12036 1026 112479 5.99 0 Cytosol;Cytoplasm;Nucleolus Amyotrophic lateral sclerosis;Charcot-Marie-Tooth disease 2CC PE1 22 +NX_P12074 109 12155 9.3 0 Mitochondrion;Mitochondrion inner membrane Charcot-Marie-Tooth disease, recessive, intermediate type, D PE1 12 +NX_P12081 509 57411 5.72 0 Cytosol;Cytoplasm Usher syndrome 3B;Charcot-Marie-Tooth disease 2W PE1 5 +NX_P12104 132 15207 6.62 0 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA PE1 4 +NX_P12107 1806 181065 5.06 0 Endoplasmic reticulum;Extracellular matrix Marshall syndrome;Stickler syndrome 2;Fibrochondrogenesis 1 PE1 1 +NX_P12109 1028 108529 5.26 0 Cytosol;Extracellular matrix Ullrich congenital muscular dystrophy 1;Bethlem myopathy 1 PE1 21 +NX_P12110 1019 108579 5.85 0 Cytosol;Membrane;Cell membrane;Extracellular matrix Ullrich congenital muscular dystrophy 1;Myosclerosis autosomal recessive;Bethlem myopathy 1 PE1 21 +NX_P12111 3177 343669 6.26 0 Extracellular matrix Ullrich congenital muscular dystrophy 1;Dystonia 27;Bethlem myopathy 1 PE1 2 +NX_P12235 298 33064 9.78 6 Mitochondrion inner membrane Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2;Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type;Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type PE1 4 +NX_P12236 298 32866 9.76 6 Mitochondrion inner membrane NA PE1 X +NX_P12259 2224 251703 5.68 0 Golgi apparatus;Secreted Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;Ischemic stroke;Factor V deficiency;Pregnancy loss, recurrent, 1 PE1 1 +NX_P12268 514 55805 6.44 0 Cytosol;Cytoplasm;Nucleus NA PE1 3 +NX_P12270 2363 267293 4.97 0 Kinetochore;Nucleus membrane;Cytoplasm;Nuclear pore complex;Nucleus envelope;Nucleus;Spindle NA PE1 1 +NX_P12271 317 36474 4.98 0 Cytosol;Cytoplasm;Centrosome;Nucleoplasm Retinitis punctata albescens;Rod-cone dystrophy Newfoundland;Bothnia retinal dystrophy PE1 15 +NX_P12272 177 20194 10.19 0 Golgi apparatus;Secreted;Cytosol;Cytoplasm;Nucleoplasm;Nucleus Brachydactyly E2 PE1 12 +NX_P12273 146 16572 8.26 0 Secreted NA PE1 7 +NX_P12277 381 42644 5.34 0 Cytosol;Cytoplasm NA PE1 14 +NX_P12314 374 42632 8.09 1 Cell membrane NA PE1 1 +NX_P12318 317 35001 6.19 1 Cell membrane NA PE1 1 +NX_P12319 257 29596 6.23 1 Cell membrane NA PE1 1 +NX_P12429 323 36375 5.63 0 Cytosol NA PE1 4 +NX_P12524 364 40327 5.47 0 Nucleus NA PE1 1 +NX_P12525 358 40868 5.14 0 Nucleus NA PE5 X +NX_P12532 417 47037 8.6 0 Mitochondrion inner membrane NA PE1 15 +NX_P12544 262 28999 9.14 0 Cytoplasmic granule;Secreted NA PE1 5 +NX_P12643 396 44702 9.15 0 Cytoplasmic vesicle;Secreted Brachydactyly A2;Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies PE1 20 +NX_P12644 408 46555 8.97 0 Extracellular matrix Non-syndromic orofacial cleft 11;Microphthalmia, syndromic, 6 PE1 14 +NX_P12645 472 53372 9.64 0 Secreted NA PE1 4 +NX_P12694 445 50471 8.42 0 Mitochondrion matrix Maple syrup urine disease 1A PE1 19 +NX_P12724 160 18385 10.12 0 Secreted NA PE1 14 +NX_P12755 728 80005 7.73 0 Nucleoplasm;Nucleus Shprintzen-Goldberg craniosynostosis syndrome PE1 1 +NX_P12757 684 76976 6.72 0 Cytosol;Nucleoplasm NA PE1 3 +NX_P12814 892 103058 5.25 0 Ruffle;Cytoplasm;Cell membrane;Focal adhesion;Cytoskeleton;Cell junction;Z line Bleeding disorder, platelet-type 15 PE1 14 +NX_P12821 1306 149715 5.95 1 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Secreted Intracerebral hemorrhage;Ischemic stroke;Renal tubular dysgenesis;Microvascular complications of diabetes 3 PE1 17 +NX_P12829 197 21565 4.98 0 Cell membrane Atrial fibrillation, familial, 18 PE1 17 +NX_P12830 882 97456 4.58 1 Endosome;Golgi apparatus;trans-Golgi network;Cell membrane;Cell junction Ovarian cancer;Endometrial cancer;Blepharocheilodontic syndrome 1;Breast cancer, lobular;Hereditary diffuse gastric cancer PE1 16 +NX_P12838 97 10504 8.3 0 Secreted NA PE1 8 +NX_P12872 115 12920 6.14 0 Secreted NA PE1 6 +NX_P12882 1939 223145 5.59 0 Myofibril NA PE1 17 +NX_P12883 1935 223097 5.63 0 Sarcomere;Myofibril Left ventricular non-compaction 5;Cardiomyopathy, dilated 1S;Myopathy, myosin storage, autosomal recessive;Myopathy, myosin storage, autosomal dominant;Myopathy, distal, 1;Scapuloperoneal myopathy MYH7-related;Cardiomyopathy, familial hypertrophic 1 PE1 14 +NX_P12931 536 59835 7.1 0 Cytosol;Cell membrane;Perinuclear region;Nucleus;Mitochondrion inner membrane;Cytoskeleton Thrombocytopenia 6 PE1 20 +NX_P12955 493 54548 5.64 0 Nucleoplasm Prolidase deficiency PE1 19 +NX_P12956 609 69843 6.23 0 Nucleoplasm;Nucleus;Chromosome NA PE1 22 +NX_P12980 280 29938 10.69 0 Nucleus;Golgi apparatus NA PE1 19 +NX_P13010 732 82705 5.55 0 Nucleoplasm;Nucleolus;Nucleus;Chromosome NA PE1 2 +NX_P13051 313 34645 9.37 0 Mitochondrion;Cytosol;Nucleus Immunodeficiency with hyper-IgM 5 PE1 12 +NX_P13056 603 67315 5.89 0 Cytosol;PML body;Nucleus;Cell junction NA PE1 12 +NX_P13073 169 19577 9.52 0 Mitochondrion;Mitochondrion inner membrane NA PE1 16 +NX_P13164 125 13964 7.78 1 Cytosol;Cell membrane NA PE1 11 +NX_P13196 640 70581 8.74 0 Mitochondrion matrix;Mitochondrion;Nucleoplasm NA PE1 3 +NX_P13224 206 21718 9.67 1 Membrane Bernard-Soulier syndrome PE1 22 +NX_P13232 177 20187 8.87 0 Secreted NA PE1 8 +NX_P13236 92 10212 5.13 0 Secreted NA PE1 17 +NX_P13284 250 27964 4.79 0 Cytosol;Cytoplasmic vesicle;Lysosome;Secreted NA PE1 19 +NX_P13349 255 28296 5.9 0 Nucleoplasm;Nucleus NA PE2 12 +NX_P13378 290 31911 8.7 0 Nucleus NA PE1 2 +NX_P13385 188 21169 8.54 0 Cell membrane;Secreted NA PE1 3 +NX_P13473 410 44961 5.35 1 Endosome membrane;Autophagosome membrane;Lysosome membrane;Cell membrane Danon disease PE1 X +NX_P13489 461 49973 4.71 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 11 +NX_P13497 986 111249 6.48 0 trans-Golgi network;Extracellular matrix Osteogenesis imperfecta 13 PE1 8 +NX_P13498 195 21013 9.58 0 Cell membrane Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive PE1 16 +NX_P13500 99 11025 9.4 0 Cytoplasmic vesicle;Golgi apparatus;Secreted NA PE1 17 +NX_P13501 91 9990 9.27 0 Secreted NA PE1 17 +NX_P13521 617 70941 4.67 0 Secreted NA PE1 2 +NX_P13533 1939 223735 5.58 0 Myofibril Cardiomyopathy, dilated 1EE;Atrial septal defect 3;Cardiomyopathy, familial hypertrophic 14;Sick sinus syndrome 3 PE1 14 +NX_P13535 1937 222763 5.59 0 Myofibril Arthrogryposis, distal, 7;Carney complex variant PE1 17 +NX_P13569 1480 168142 8.91 12 Endoplasmic reticulum membrane;Apical cell membrane;Early endosome membrane;Cell membrane;Nucleus;Recycling endosome membrane Congenital bilateral absence of the vas deferens;Cystic fibrosis PE1 7 +NX_P13584 511 58991 8.47 0 Endoplasmic reticulum membrane;Microsome membrane;Cytoplasmic vesicle NA PE1 1 +NX_P13591 858 94574 4.79 1 Cytosol;Cell membrane;Secreted NA PE1 11 +NX_P13598 275 30654 7.09 1 Cytosol;Microvillus;Membrane NA PE1 17 +NX_P13611 3396 372820 4.43 0 Cytoplasmic vesicle;Extracellular matrix Wagner vitreoretinopathy PE1 5 +NX_P13612 1032 114900 6.05 1 Cell membrane;Membrane NA PE1 2 +NX_P13631 454 50342 7.44 0 Nucleoplasm;Nucleus NA PE1 12 +NX_P13637 1013 111749 5.22 10 Cell membrane Alternating hemiplegia of childhood 2;Dystonia 12;Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss PE1 19 +NX_P13639 858 95338 6.41 0 Cytosol;Cytoplasm;Nucleus;Cell membrane Spinocerebellar ataxia 26 PE1 19 +NX_P13640 62 6141 8.38 0 NA NA PE1 16 +NX_P13645 584 58827 5.13 0 Extracellular space Erythroderma, ichthyosiform, congenital reticular;Ichthyosis annular epidermolytic;Epidermolytic hyperkeratosis PE1 17 +NX_P13646 458 49588 4.91 0 Cytoskeleton White sponge nevus 2 PE1 17 +NX_P13647 590 62378 7.58 0 Cytoskeleton Epidermolysis bullosa simplex, with mottled pigmentation;Epidermolysis bullosa simplex, Dowling-Meara type;Epidermolysis bullosa simplex, autosomal recessive 1;Epidermolysis bullosa simplex, Weber-Cockayne type;Dowling-Degos disease 1;Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, with migratory circinate erythema PE1 12 +NX_P13667 645 72932 4.96 0 Endoplasmic reticulum lumen;Melanosome;Endoplasmic reticulum NA PE1 7 +NX_P13671 934 104786 6.39 0 Secreted Complement component 6 deficiency PE1 5 +NX_P13674 534 61049 5.7 0 Cytoplasmic vesicle;Mitochondrion;Endoplasmic reticulum lumen;Endoplasmic reticulum NA PE1 10 +NX_P13682 527 59089 8.44 0 Nucleoplasm;Nucleus NA PE1 3 +NX_P13686 325 36599 8.82 0 Cytosol;Lysosome Spondyloenchondrodysplasia with immune dysregulation PE1 19 +NX_P13688 526 57560 5.65 1 Apical cell membrane;Secreted;Cell membrane;Basal cell membrane;Microvillus membrane;Adherens junction;Secretory vesicle membrane;Cell junction;Lateral cell membrane NA PE1 19 +NX_P13693 172 19595 4.84 0 Cytoplasm NA PE1 13 +NX_P13716 330 36295 6.32 0 NA Acute hepatic porphyria PE1 9 +NX_P13725 252 28484 10.71 0 Secreted NA PE1 22 +NX_P13726 295 33068 6.64 1 Cytoplasmic vesicle;Secreted;Membrane NA PE1 1 +NX_P13727 222 25206 6.32 0 Secretory vesicle;Secreted NA PE1 11 +NX_P13746 365 40937 5.77 1 Membrane NA PE1 6 +NX_P13747 358 40058 5.52 1 Golgi apparatus membrane;Cell membrane;Secreted NA PE1 6 +NX_P13760 266 30112 6.71 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA PE1 6 +NX_P13761 266 29822 7.04 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA PE1 6 +NX_P13762 266 29941 6.95 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA PE1 6 +NX_P13765 273 30822 6.31 1 Endosome membrane;Lysosome membrane NA PE1 6 +NX_P13796 627 70288 5.29 0 Cytosol;Cell membrane;Ruffle membrane;Cytoskeleton;Cell projection;Cell junction NA PE1 13 +NX_P13797 630 70811 5.41 0 Cytosol;Cytoplasm;Cell membrane Osteoporosis PE1 X +NX_P13798 732 81225 5.29 0 Cytosol;Cytoplasm NA PE1 3 +NX_P13804 333 35080 8.62 0 Mitochondrion matrix;Mitochondrion Glutaric aciduria 2A PE1 15 +NX_P13805 278 32948 5.86 0 Cytosol;Nucleus;Golgi apparatus Nemaline myopathy 5 PE1 19 +NX_P13807 737 83786 5.8 0 Cytosol;Cytoskeleton Muscle glycogen storage disease 0 PE1 19 +NX_P13861 404 45518 4.96 0 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus;Cell membrane;Microtubule organizing center NA PE1 3 +NX_P13866 664 73498 7.82 13 Cytoplasmic vesicle;Nucleoplasm;Membrane Congenital glucose/galactose malabsorption PE1 22 +NX_P13928 327 36881 5.56 0 NA NA PE1 10 +NX_P13929 434 46987 7.58 0 Cytoplasm Glycogen storage disease 13 PE1 17 +NX_P13942 1736 171791 5.89 0 Extracellular matrix Otospondylomegaepiphyseal dysplasia, autosomal dominant;Deafness, autosomal recessive, 53;Deafness, autosomal dominant, 13;Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, autosomal recessive PE1 6 +NX_P13945 408 43519 9.39 7 Cell membrane NA PE1 8 +NX_P13984 249 28380 9.24 0 Cytoskeleton;Nucleolus;Nucleus NA PE1 13 +NX_P13985 223 24343 12.23 0 NA NA PE5 1 +NX_P13987 128 14177 6.02 0 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Secreted Hemolytic anemia, CD59-mediated, with or without polyneuropathy PE1 11 +NX_P13994 396 44802 8.47 0 Cytoplasmic vesicle NA PE1 19 +NX_P13995 350 37895 8.86 0 Mitochondrion NA PE1 2 +NX_P14060 373 42252 8.86 1 Endoplasmic reticulum membrane;Mitochondrion membrane NA PE1 1 +NX_P14061 328 34950 5.46 0 Cytosol;Cytoplasm NA PE1 17 +NX_P14091 396 42794 4.69 0 Endosome NA PE1 1 +NX_P14136 432 49880 5.42 0 Cytoplasm;Cytoskeleton Alexander disease PE1 17 +NX_P14138 238 25454 6.24 0 Secreted Congenital central hypoventilation syndrome;Waardenburg syndrome 4B;Hirschsprung disease 4 PE1 20 +NX_P14151 372 42187 6.2 1 Cytosol;Cell membrane NA PE1 1 +NX_P14174 115 12476 7.73 0 Cytosol;Cytoplasm;Nucleoplasm;Secreted Rheumatoid arthritis systemic juvenile PE1 22 +NX_P14207 255 29280 7.5 0 Cell membrane;Secreted NA PE1 11 +NX_P14209 185 18848 4.58 1 Golgi apparatus;Membrane NA PE1 X +NX_P14210 728 83134 8.22 0 Cytosol;Centrosome Deafness, autosomal recessive, 39 PE1 7 +NX_P14222 555 61377 8.04 0 Cytosol;Cytoplasmic granule lumen;Endosome lumen;Cell membrane;Secreted Familial hemophagocytic lymphohistiocytosis 2 PE1 10 +NX_P14314 528 59425 4.33 0 Endoplasmic reticulum Polycystic liver disease 1 with or without kidney cysts PE1 19 +NX_P14316 349 39354 7.07 0 Cytosol;Nucleoplasm;Nucleus NA PE1 4 +NX_P14317 486 54014 4.74 0 Cytosol;Cytoplasm;Mitochondrion;Cell membrane;Membrane NA PE1 3 +NX_P14324 419 48275 5.83 0 Nucleoplasm;Cytoplasm;Cytosol Porokeratosis 9, multiple types PE1 1 +NX_P14373 513 58490 5.83 0 Early endosome;Cytoplasm;Nucleolus;Nucleus;PML body NA PE1 6 +NX_P14384 443 50514 6.94 0 Cytoplasmic vesicle;Cell membrane NA PE1 12 +NX_P14406 83 9396 9.75 0 Mitochondrion;Mitochondrion inner membrane;Cell membrane NA PE1 6 +NX_P14410 1827 209453 5.38 1 Apical cell membrane Congenital sucrase-isomaltase deficiency PE1 3 +NX_P14415 290 33367 8.57 1 Cell membrane NA PE1 17 +NX_P14416 443 50619 9.55 7 Cell membrane NA PE1 11 +NX_P14543 1247 136377 5.12 0 Basement membrane NA PE1 1 +NX_P14550 325 36573 6.32 0 Nucleoplasm;Cytosol NA PE1 1 +NX_P14555 144 16083 9.44 0 Nucleolus;Nucleus;Endoplasmic reticulum;Cell membrane;Secreted NA PE1 1 +NX_P14598 390 44682 9.2 0 Cytosol;Membrane Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive PE1 7 +NX_P14616 1297 143720 6.03 1 Membrane NA PE1 1 +NX_P14618 531 57937 7.96 0 Cytosol;Cytoplasm;Nucleus NA PE1 15 +NX_P14621 99 11140 9.52 0 Nucleoplasm;Cytoplasm NA PE1 2 +NX_P14625 803 92469 4.76 0 Endoplasmic reticulum lumen;Melanosome;Endoplasmic reticulum NA PE1 12 +NX_P14635 433 48337 7.09 0 Cytosol;Cytoplasm;Nucleus;Centrosome NA PE1 5 +NX_P14649 208 22764 5.56 0 Cytoplasmic vesicle NA PE1 12 +NX_P14651 431 44340 9.27 0 Nucleus NA PE1 17 +NX_P14652 356 37914 5.03 0 Nucleus NA PE1 17 +NX_P14653 301 32193 6.45 0 Nucleus Facial paresis, hereditary congenital, 3 PE1 17 +NX_P14672 509 54787 6.48 12 Perinuclear region;Cell membrane;Endomembrane system Diabetes mellitus, non-insulin-dependent PE1 17 +NX_P14678 240 24610 11.2 0 Cytosol;Nucleus Cerebrocostomandibular syndrome PE1 20 +NX_P14679 529 60393 5.71 1 Cytoplasmic vesicle;Melanosome;Melanosome membrane Albinism, oculocutaneous, 1A;Albinism, oculocutaneous, 1B PE1 11 +NX_P14735 1019 117968 6.16 0 Cytoplasm;Cell membrane;Secreted NA PE1 10 +NX_P14770 177 19046 5.89 1 Membrane Bernard-Soulier syndrome PE1 3 +NX_P14778 569 65402 8 1 Membrane;Cell membrane;Secreted NA PE1 2 +NX_P14780 707 78458 5.69 0 Cytosol;Extracellular matrix Intervertebral disc disease;Metaphyseal anadysplasia 2 PE1 20 +NX_P14784 551 61117 4.93 1 Membrane NA PE1 22 +NX_P14854 86 10192 6.54 0 Mitochondrion;Mitochondrion intermembrane space Mitochondrial complex IV deficiency PE1 19 +NX_P14859 743 76472 6.34 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Endoplasmic reticulum NA PE1 1 +NX_P14866 589 64133 8.46 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 19 +NX_P14867 456 51802 9.27 4 Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane Juvenile myoclonic epilepsy 5;Epilepsy, idiopathic generalized 13;Epileptic encephalopathy, early infantile, 19;Epilepsy, childhood absence 4 PE1 5 +NX_P14868 501 57136 6.11 0 Cytosol Hypomyelination with brainstem and spinal cord involvement and leg spasticity PE1 2 +NX_P14902 403 45326 6.87 0 Cytosol NA PE1 8 +NX_P14920 347 39474 6.36 0 Peroxisome Schizophrenia PE1 12 +NX_P14921 441 50408 5.04 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 11 +NX_P14923 745 81745 5.75 0 Cell membrane;Cytoplasmic vesicle;Desmosome;Membrane;Adherens junction;Cytoskeleton;Cell junction Arrhythmogenic right ventricular dysplasia, familial, 12;Naxos disease PE1 17 +NX_P14927 111 13530 8.73 0 Mitochondrion;Cytoplasm;Nucleus;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 3 PE1 8 +NX_P15018 202 22008 9.44 0 Cytosol;Secreted NA PE1 22 +NX_P15036 469 53001 4.93 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA PE1 21 +NX_P15056 766 84437 7.29 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Cell membrane Lung cancer;Colorectal cancer;Cardiofaciocutaneous syndrome 1;Noonan syndrome 7;LEOPARD syndrome 3;Familial non-Hodgkin lymphoma PE1 7 +NX_P15085 419 47140 5.45 0 Secreted NA PE1 7 +NX_P15086 417 47368 6.16 0 Secreted NA PE1 3 +NX_P15088 417 48670 9.08 0 Secretory vesicle NA PE1 3 +NX_P15090 132 14719 6.59 0 Cytoplasm;Nucleus NA PE1 8 +NX_P15104 373 42064 6.43 0 Mitochondrion;Cytosol;Microsome;Cell membrane Congenital systemic glutamine deficiency PE1 1 +NX_P15121 316 35853 6.51 0 Cytosol;Cytoplasm;Nucleus NA PE1 7 +NX_P15144 967 109540 5.31 1 Cell membrane NA PE1 15 +NX_P15151 417 45303 6.07 1 Cytoplasmic vesicle;Nucleoplasm;Cell membrane;Secreted NA PE1 19 +NX_P15153 192 21429 7.52 0 Cytoplasm Neutrophil immunodeficiency syndrome PE1 22 +NX_P15169 458 52286 6.86 0 Extracellular space;Nucleolus;Nucleus Carboxypeptidase N deficiency PE1 10 +NX_P15170 499 55756 5.45 0 Cytoplasmic vesicle;Cytoplasm;Cytosol NA PE1 16 +NX_P15172 320 34501 5.56 0 Nucleoplasm;Cytosol;Nucleus NA PE1 11 +NX_P15173 224 25037 5.45 0 Nucleoplasm;Nucleus NA PE1 1 +NX_P15248 144 15909 8.93 0 Secreted NA PE2 5 +NX_P15259 253 28766 8.99 0 Nucleoplasm;Cytosol Glycogen storage disease 10 PE1 7 +NX_P15260 489 54405 4.83 1 Cell membrane Immunodeficiency 27A;Immunodeficiency 27B PE1 6 +NX_P15289 507 53588 5.65 0 Cytosol;Golgi apparatus;Endoplasmic reticulum;Lysosome Metachromatic leukodystrophy;Multiple sulfatase deficiency PE1 22 +NX_P15291 398 43920 8.88 1 Golgi stack membrane;Golgi apparatus;Secreted;Cell membrane;Filopodium;Cell surface Congenital disorder of glycosylation 2D PE1 9 +NX_P15309 386 44566 5.83 0 Lysosome membrane;Cell membrane;Secreted NA PE1 3 +NX_P15311 586 69413 5.94 0 Apical cell membrane;Microvillus;Cell cortex;Cell membrane;Microvillus membrane;Ruffle membrane;Cytoskeleton;Cell projection NA PE1 6 +NX_P15313 513 56833 5.44 0 Nucleus;Nucleus membrane;Endomembrane system Renal tubular acidosis, distal, with progressive nerve deafness PE1 2 +NX_P15328 257 29819 8.3 0 Endosome;Apical cell membrane;Nucleus membrane;Secreted;Cell membrane;Cytoplasmic vesicle;Clathrin-coated vesicle Neurodegeneration due to cerebral folate transport deficiency PE1 11 +NX_P15336 505 54537 7.75 0 Nucleoplasm;Cytoplasm;Nucleus;Mitochondrion outer membrane NA PE1 2 +NX_P15374 230 26183 4.84 0 Cytosol;Cytoplasm;Nucleus NA PE1 13 +NX_P15382 129 14675 6.83 1 Apical cell membrane;Membrane raft;Cell membrane Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2 PE1 21 +NX_P15391 556 61128 4.87 1 Membrane Immunodeficiency, common variable, 3 PE1 16 +NX_P15407 271 29413 8.21 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 11 +NX_P15408 326 35193 7.03 0 Nucleus NA PE1 2 +NX_P15421 78 8463 9.51 1 Membrane NA PE2 4 +NX_P15428 266 28977 5.56 0 Cytosol;Nucleoplasm;Cytoplasm Cranioosteoarthropathy;Isolated congenital nail clubbing;Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 PE1 4 +NX_P15498 845 98314 6.2 0 Cytosol NA PE1 19 +NX_P15502 786 68398 10.4 0 Mitochondrion;Cell membrane;Extracellular matrix Supravalvular aortic stenosis;Cutis laxa, autosomal dominant, 1 PE1 7 +NX_P15509 400 46207 7.91 1 Cell membrane;Secreted Pulmonary surfactant metabolism dysfunction 4 PE1 X +NX_P15514 252 27895 7.01 1 Mitochondrion;Membrane NA PE1 4 +NX_P15515 57 6963 9.1 0 Secreted NA PE1 4 +NX_P15516 51 6149 10.09 0 Cytoplasmic vesicle;Secreted NA PE1 4 +NX_P15529 392 43747 6.34 1 Cell membrane;Acrosome inner membrane Hemolytic uremic syndrome atypical 2 PE1 1 +NX_P15531 152 17149 5.83 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 17 +NX_P15538 503 57573 9.4 0 Mitochondrion membrane Adrenal hyperplasia 4;Hyperaldosteronism, familial, 1 PE1 8 +NX_P15559 274 30868 8.91 0 Cytosol;Cytoplasm NA PE1 16 +NX_P15586 552 62082 8.6 0 Lysosome Mucopolysaccharidosis 3D PE1 12 +NX_P15621 663 76524 9 0 Nucleoplasm;Cytosol;Cytoskeleton;Nucleus NA PE1 19 +NX_P15622 560 63468 8.65 0 Nucleus speckle;Nucleus NA PE1 8 +NX_P15692 232 27042 9.21 0 Secreted Microvascular complications of diabetes 1 PE1 6 +NX_P15735 406 46442 5.95 0 Cytosol Glycogen storage disease 9C PE1 16 +NX_P15812 388 43626 8.87 1 Lysosome lumen;Late endosome;Golgi apparatus membrane;Early endosome NA PE1 1 +NX_P15813 335 37717 8.43 1 Endoplasmic reticulum membrane;Lysosome membrane;Basolateral cell membrane;Endoplasmic reticulum;Endosome membrane;Cell membrane NA PE1 1 +NX_P15814 213 22963 10.1 0 Endoplasmic reticulum;Secreted Agammaglobulinemia 2, autosomal recessive PE1 22 +NX_P15822 2718 296865 7.98 0 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA PE1 6 +NX_P15848 533 59687 8.43 0 Cell surface;Golgi apparatus;Lysosome Mucopolysaccharidosis 6;Multiple sulfatase deficiency PE1 5 +NX_P15863 534 55499 9.9 0 Nucleus Otofaciocervical syndrome 2 PE1 20 +NX_P15880 293 31324 10.25 0 Cytosol;Cytoplasm;Endoplasmic reticulum NA PE1 16 +NX_P15882 459 53172 6.51 0 Cytosol Duane retraction syndrome 2 PE1 2 +NX_P15884 667 71308 6.51 0 Cytosol;Nucleoplasm;Nucleus Corneal dystrophy, Fuchs endothelial, 3;Pitt-Hopkins syndrome PE1 18 +NX_P15907 406 46605 9.13 1 Golgi stack membrane;Secreted NA PE1 3 +NX_P15918 1043 119097 8.94 0 Nucleus Omenn syndrome;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive;Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity;Combined cellular and humoral immune defects with granulomas PE1 11 +NX_P15923 654 67600 6 0 Nucleoplasm;Nucleus Agammaglobulinemia 8, autosomal dominant PE1 19 +NX_P15924 2871 331774 6.44 0 Desmosome;Cytoskeleton;Cell junction;Cell membrane Keratoderma, palmoplantar, striate 2;Arrhythmogenic right ventricular dysplasia, familial, 8;Epidermolysis bullosa, lethal acantholytic;Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis;Skin fragility-woolly hair syndrome;Cardiomyopathy, dilated, with woolly hair and keratoderma PE1 6 +NX_P15927 270 29247 5.75 0 Nucleoplasm;PML body;Nucleus NA PE1 1 +NX_P15941 1255 122102 6.96 1 Cytoplasm;Apical cell membrane;Nucleus;Cell membrane;Secreted Medullary cystic kidney disease 1 PE1 1 +NX_P15954 63 7246 10.29 1 Mitochondrion;Mitochondrion inner membrane NA PE1 5 +NX_P15976 413 42751 9.03 0 Nucleus Thrombocytopenia with beta-thalassemia, X-linked;Anemia without thrombocytopenia, X-linked;X-linked dyserythropoietic anemia and thrombocytopenia PE1 X +NX_P16035 220 24399 7.46 0 Cytoplasm;Secreted NA PE1 17 +NX_P16050 662 74804 6.14 0 Cytosol;Lipid droplet;Cell membrane NA PE1 17 +NX_P16066 1061 118919 6.19 1 Nucleolus;Nucleus;Cell membrane;Membrane NA PE1 1 +NX_P16070 742 81538 5.13 1 Microvillus;Golgi apparatus;Cell membrane NA PE1 11 +NX_P16083 231 25919 5.87 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 6 +NX_P16104 143 15145 10.74 0 Nucleoplasm;Nucleus speckle;Nucleus;Chromosome NA PE1 11 +NX_P16109 830 90834 6.17 1 Cell membrane Ischemic stroke PE1 1 +NX_P16112 2530 261329 4.06 0 Extracellular matrix Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia type Kimberley PE1 15 +NX_P16118 471 54681 6.14 0 NA NA PE1 X +NX_P16144 1822 202167 5.74 1 Hemidesmosome;Cell junction;Cell membrane Epidermolysis bullosa simplex, Weber-Cockayne type;Generalized atrophic benign epidermolysis bullosa;Epidermolysis bullosa letalis, with pyloric atresia PE1 17 +NX_P16150 400 40322 5.01 1 PML body;Uropodium;Golgi apparatus;Microvillus;Cell membrane;Nucleus;Membrane;Cell junction NA PE1 16 +NX_P16152 277 30375 8.55 0 Cytosol;Cytoplasm;Nucleus NA PE1 21 +NX_P16157 1881 206265 5.65 0 Sarcoplasmic reticulum;Cytoskeleton;M line;Membrane Spherocytosis 1 PE1 8 +NX_P16188 365 40905 5.73 1 Membrane NA PE1 6 +NX_P16189 365 41004 6.02 1 Membrane NA PE1 6 +NX_P16190 365 40892 6.22 1 Membrane NA PE1 6 +NX_P16219 412 44297 8.13 0 Mitochondrion;Mitochondrion matrix Acyl-CoA dehydrogenase short-chain deficiency PE1 12 +NX_P16220 341 36688 5.46 0 Nucleoplasm;Nucleus Angiomatoid fibrous histiocytoma PE1 2 +NX_P16233 465 51157 6.27 0 Secreted Pancreatic lipase deficiency PE1 10 +NX_P16234 1089 122670 5.05 1 Golgi apparatus;Nucleus;Cilium;Cell membrane;Cell junction Gastrointestinal stromal tumor PE1 4 +NX_P16260 332 36224 9.87 6 Mitochondrion;Mitochondrion inner membrane NA PE1 10 +NX_P16278 677 76075 6.1 0 Cytoplasmic vesicle;Perinuclear region;Golgi apparatus;Lysosome GM1-gangliosidosis 1;GM1-gangliosidosis 3;GM1-gangliosidosis 2;Mucopolysaccharidosis 4B PE1 3 +NX_P16284 738 82522 6.55 1 Cell junction;Cell membrane;Membrane raft NA PE1 17 +NX_P16298 524 59024 5.6 0 Mitochondrion;Cytoplasm NA PE1 10 +NX_P16333 377 42864 6.06 0 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Cell membrane NA PE1 3 +NX_P16383 781 89385 5.71 0 Nucleoplasm;Nucleolus NA PE1 2 +NX_P16389 499 56717 4.78 6 Endoplasmic reticulum membrane;Synaptosome;Synapse;Cell membrane;Axon;Dendrite;Lamellipodium membrane;Presynaptic cell membrane;Membrane;Paranodal septate junction Epileptic encephalopathy, early infantile, 32 PE1 1 +NX_P16401 226 22580 10.91 0 Nucleoplasm;Nucleus;Chromosome NA PE1 6 +NX_P16402 221 22350 11.02 0 Nucleus;Chromosome NA PE1 6 +NX_P16403 213 21365 10.94 0 Nucleolus;Nucleus;Chromosome NA PE1 6 +NX_P16410 223 24656 6.7 1 Cell membrane Systemic lupus erythematosus;Autoimmune lymphoproliferative syndrome 5;Diabetes mellitus, insulin-dependent, 12;Celiac disease 3 PE1 2 +NX_P16415 610 70270 9.04 0 Nucleus NA PE1 19 +NX_P16422 314 34932 7.42 1 Cell membrane;Tight junction;Lateral cell membrane Diarrhea 5, with tufting enteropathy, congenital;Hereditary non-polyposis colorectal cancer 8 PE1 2 +NX_P16435 677 76690 5.38 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cytosol;Endoplasmic reticulum;Nucleoplasm Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency;Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis PE1 7 +NX_P16442 354 40934 9.14 1 Golgi stack membrane;Secreted NA PE1 9 +NX_P16444 411 45674 5.75 0 Microvillus membrane;Apical cell membrane;Nucleus;Cell junction NA PE1 16 +NX_P16452 691 77009 8.39 0 Cytoskeleton;Cell membrane Spherocytosis 5 PE1 15 +NX_P16455 207 21646 8.28 0 Nucleoplasm;Nucleus NA PE1 10 +NX_P16471 622 69506 5.23 1 Membrane;Secreted Hyperprolactinemia;Multiple fibroadenomas of the breast PE1 5 +NX_P16473 764 86830 6.56 7 Basolateral cell membrane;Cell membrane Hypothyroidism, congenital, non-goitrous, 1;Hyperthyroidism, non-autoimmune;Familial gestational hyperthyroidism PE1 14 +NX_P16499 860 99547 5.48 0 Cell membrane Retinitis pigmentosa 43 PE1 5 +NX_P16519 638 70565 6.04 0 Cytoplasmic vesicle;Secretory vesicle;Secreted NA PE1 20 +NX_P16520 340 37221 5.39 0 NA Night blindness, congenital stationary, 1H PE1 12 +NX_P16562 243 27259 6.09 0 Secreted NA PE1 6 +NX_P16581 610 66655 5.2 1 Cell membrane NA PE1 1 +NX_P16591 822 94638 6.72 0 Cytosol;Cytoplasm;Cell cortex;Cell membrane;Nucleus;Membrane;Cytoskeleton;Cell projection;Cell junction NA PE1 5 +NX_P16615 1042 114757 5.23 10 Endoplasmic reticulum membrane;Nucleoplasm;Sarcoplasmic reticulum membrane Acrokeratosis verruciformis;Darier disease PE1 12 +NX_P16619 93 10161 4.77 0 Secreted NA PE1 17 +NX_P16662 529 60721 8.54 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 4 +NX_P16671 472 53053 8.19 2 Apical cell membrane;Cell membrane;Golgi apparatus;Membrane raft Platelet glycoprotein IV deficiency;Coronary heart disease 7 PE1 7 +NX_P16860 134 14726 10.34 0 Secreted NA PE1 1 +NX_P16870 476 53151 5.03 0 Secreted;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Secretory vesicle membrane;Centrosome NA PE1 4 +NX_P16871 459 51579 5.27 1 Secreted;Cell membrane;Microtubule organizing center Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive;Multiple sclerosis 3 PE1 5 +NX_P16885 1265 147870 6.21 0 Cytoplasmic vesicle Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated;Familial cold autoinflammatory syndrome 3 PE1 16 +NX_P16930 419 46374 6.46 0 Cytosol Tyrosinemia 1 PE1 15 +NX_P16949 149 17303 5.76 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA PE1 1 +NX_P16989 372 40090 9.77 0 Cytosol;Cytoplasm;Nucleus NA PE1 12 +NX_P17010 805 90522 5.71 0 Nucleus NA PE1 X +NX_P17014 697 81202 8.12 0 Nucleoplasm;Nucleus;Centrosome NA PE1 7 +NX_P17017 642 75353 9.36 0 Cytosol;Nucleus NA PE1 19 +NX_P17019 499 57357 9.5 0 Nucleus NA PE1 19 +NX_P17020 682 76472 8.31 0 Nucleolus;Nucleus NA PE1 8 +NX_P17021 662 77204 8.81 0 Nucleus NA PE1 19 +NX_P17022 549 62288 5.65 0 Cytosol;Nucleoplasm;Nucleus;Golgi apparatus;Cell membrane NA PE1 17 +NX_P17023 458 52449 7.98 0 Mitochondrion;Nucleus NA PE1 16 +NX_P17024 532 61567 8.94 0 Nucleoplasm;Nucleus;Cell membrane NA PE1 19 +NX_P17025 639 73646 8.97 0 Nucleus NA PE1 X +NX_P17026 224 25915 10.06 0 Nucleus NA PE1 10 +NX_P17027 643 73059 8.49 0 Cytosol;Nucleus NA PE1 16 +NX_P17028 368 42155 5.82 0 Nucleus NA PE1 18 +NX_P17029 563 63630 6.6 0 Mitochondrion;Nucleus NA PE1 7 +NX_P17030 456 53545 9.22 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE2 10 +NX_P17031 533 61282 9.12 0 Mitochondrion;Nucleus NA PE1 12 +NX_P17032 561 65418 8.53 0 Cytoplasmic vesicle;Nucleus NA PE1 10 +NX_P17035 718 83658 9.25 0 Nucleus NA PE1 19 +NX_P17036 446 50916 7.31 0 Nucleoplasm;Nucleus NA PE1 7 +NX_P17038 809 94124 9.35 0 Nucleus NA PE1 19 +NX_P17039 623 71417 9.27 0 Cytosol;Nucleoplasm;Nucleus NA PE1 19 +NX_P17040 1043 117541 6.01 0 Nucleoplasm;Nucleus NA PE1 1 +NX_P17041 273 31029 9.52 0 Nucleoplasm;Nucleus NA PE1 10 +NX_P17050 411 46565 4.98 0 Lysosome Kanzaki disease;Schindler disease PE1 22 +NX_P17066 643 71028 5.81 0 NA NA PE1 1 +NX_P17081 205 22659 5.94 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Cell membrane NA PE1 2 +NX_P17096 107 11676 10.31 0 Nucleolus;Nucleus;Chromosome NA PE1 6 +NX_P17097 686 77887 8.67 0 Mitochondrion;Nucleus NA PE1 8 +NX_P17098 575 64970 7.04 0 Nucleoplasm;Nucleus NA PE1 19 +NX_P17152 192 21541 6.98 2 Mitochondrion;Mitochondrion inner membrane;Cell membrane NA PE1 17 +NX_P17174 413 46248 6.53 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 10 +NX_P17181 557 63525 5.58 1 Cytosol;Late endosome;Cell membrane;Lysosome NA PE1 21 +NX_P17213 487 53900 9.41 0 Cytoplasmic granule membrane;Secreted NA PE1 20 +NX_P17252 672 76750 6.61 0 Cytosol;Cytoplasm;Nucleus;Mitochondrion membrane;Cell membrane NA PE1 17 +NX_P17275 347 35879 9.27 0 Nucleoplasm;Nucleus NA PE1 19 +NX_P17301 1181 129295 5.16 1 Cytosol;Nucleus;Membrane NA PE1 5 +NX_P17302 382 43008 8.96 4 Gap junction;Nucleoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane;Cell junction Palmoplantar keratoderma and congenital alopecia 1;Oculodentodigital dysplasia, autosomal recessive;Craniometaphyseal dysplasia, autosomal recessive;Hallermann-Streiff syndrome;Atrioventricular septal defect 3;Syndactyly 3;Oculodentodigital dysplasia;Hypoplastic left heart syndrome 1;Erythrokeratodermia variabilis et progressiva 3 PE1 6 +NX_P17342 541 59808 5.93 1 Cytosol;Membrane NA PE1 5 +NX_P17405 631 69936 6.9 0 Secreted;Lysosome Niemann-Pick disease A;Niemann-Pick disease B PE1 11 +NX_P17480 764 89406 5.63 0 Nucleolus Neurodegeneration, childhood-onset, with brain atrophy PE1 17 +NX_P17481 243 27574 8.48 0 Nucleoplasm;Nucleus NA PE1 17 +NX_P17482 250 28059 9.01 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 17 +NX_P17483 251 27604 9.82 0 Nucleus;Centrosome NA PE1 17 +NX_P17509 224 25432 8.45 0 Nucleus;Golgi apparatus NA PE1 17 +NX_P17516 323 37067 6.46 0 Cytoplasm 46,XY sex reversal 8 PE1 10 +NX_P17535 347 35174 6.86 0 Nucleus NA PE1 19 +NX_P17538 263 27713 6.79 0 Extracellular space NA PE1 16 +NX_P17540 419 47504 8.46 0 Mitochondrion inner membrane NA PE1 5 +NX_P17542 331 34271 7.81 0 Nucleus NA PE1 1 +NX_P17544 494 52967 8.88 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 12 +NX_P17568 137 16402 9.1 0 Cytoplasm;Mitochondrion inner membrane;Mitochondrion intermembrane space NA PE1 19 +NX_P17600 705 74111 9.84 0 Synapse;Golgi apparatus Epilepsy X-linked, with variable learning disabilities and behavior disorders PE1 X +NX_P17612 351 40590 8.84 0 Flagellum;Acrosome;Cytoplasm;Cell membrane;Nucleus;Membrane;Mitochondrion Primary pigmented nodular adrenocortical disease 4 PE1 19 +NX_P17643 537 60724 5.62 1 Cytoplasmic vesicle;Melanosome;Melanosome membrane Albinism, oculocutaneous, 3 PE1 9 +NX_P17655 700 79995 4.87 0 Cytosol;Cytoplasm;Cell membrane NA PE1 1 +NX_P17658 529 58729 4.9 6 Cell membrane NA PE1 12 +NX_P17661 470 53536 5.21 0 Cytoplasm;Cytoskeleton;Nucleus;Sarcolemma;Z line Neurogenic scapuloperoneal syndrome Kaeser type;Cardiomyopathy, dilated 1I;Limb-girdle muscular dystrophy 2R;Myopathy, myofibrillar, 1 PE1 2 +NX_P17676 345 36106 8.55 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 20 +NX_P17677 238 24803 4.64 0 Filopodium membrane;Cytoplasm;Synapse;Cell membrane;Growth cone membrane NA PE1 3 +NX_P17693 338 38224 5.47 1 Endoplasmic reticulum membrane;Secreted;Early endosome membrane;Cell membrane;Early endosome;Filopodium membrane NA PE1 6 +NX_P17706 415 48473 8.51 0 Endoplasmic reticulum-Golgi intermediate compartment;Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;Endoplasmic reticulum NA PE1 18 +NX_P17707 334 38340 5.71 0 Nucleoplasm NA PE1 6 +NX_P17735 454 50399 5.92 0 NA Tyrosinemia 2 PE1 16 +NX_P17752 444 50985 6.77 0 Cytosol NA PE1 11 +NX_P17787 502 57019 6.33 4 Postsynaptic cell membrane;Cell membrane Epilepsy, nocturnal frontal lobe, 3 PE1 1 +NX_P17812 591 66690 6.02 0 Cytosol;Cytoskeleton Immunodeficiency 24 PE1 1 +NX_P17813 658 70578 6.14 1 Cell membrane Telangiectasia, hereditary hemorrhagic, 1 PE1 9 +NX_P17844 614 69148 9.06 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 17 +NX_P17858 780 85018 7.26 0 Mitochondrion;Cytoplasm;Nucleolus NA PE1 21 +NX_P17861 261 28695 9.71 1 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Endoplasmic reticulum;Membrane Major affective disorder 7 PE1 22 +NX_P17900 193 20838 5.17 0 Lysosome GM2-gangliosidosis AB PE1 5 +NX_P17927 2039 223663 6.57 1 Membrane NA PE1 1 +NX_P17931 250 26152 8.58 0 Secreted;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus NA PE1 14 +NX_P17936 291 31674 9.03 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Secreted NA PE1 7 +NX_P17947 270 31083 6.31 0 Nucleoplasm;Nucleus NA PE1 11 +NX_P17948 1338 150769 8.66 1 Cytoplasm;Endosome;Cytoskeleton;Cell membrane;Secreted NA PE1 13 +NX_P17980 439 49204 5.13 0 Cytosol;Cytoplasm;Nucleus NA PE1 11 +NX_P17987 556 60344 5.8 0 Cytosol;Cytoplasm;Centrosome NA PE1 6 +NX_P18031 435 49967 5.88 0 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 20 +NX_P18054 663 75694 5.82 0 Cytosol;Nucleus speckle;Membrane Esophageal cancer;Colorectal cancer PE1 17 +NX_P18065 325 34814 7.48 0 Endoplasmic reticulum;Secreted NA PE1 2 +NX_P18074 760 86909 6.72 0 Nucleoplasm;Spindle;Nucleus Trichothiodystrophy 1, photosensitive;Xeroderma pigmentosum complementation group D;Cerebro-oculo-facio-skeletal syndrome 2 PE1 19 +NX_P18075 431 49313 7.74 0 Cytoplasmic vesicle;Nucleolus;Nucleus;Secreted NA PE1 20 +NX_P18077 110 12538 11.07 0 NA Diamond-Blackfan anemia 5 PE1 3 +NX_P18084 799 88054 5.72 1 Mitochondrion;Cell membrane;Membrane NA PE1 3 +NX_P18085 180 20511 6.6 0 Golgi apparatus;Membrane NA PE1 3 +NX_P18089 450 49954 8.8 7 Cell membrane Epilepsy, familial adult myoclonic, 2 PE1 2 +NX_P18124 248 29226 10.66 0 Cytosol;Nucleolus;Endoplasmic reticulum NA PE1 8 +NX_P18146 543 57507 8.51 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 5 +NX_P18206 1134 123799 5.5 0 Cytoplasm;Cell membrane;Focal adhesion;Sarcolemma;Adherens junction;Cytoskeleton Cardiomyopathy, dilated 1W;Cardiomyopathy, familial hypertrophic 15 PE1 10 +NX_P18283 190 21954 7.64 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 14 +NX_P18405 259 29459 9.19 5 Endoplasmic reticulum membrane;Microsome membrane NA PE1 5 +NX_P18428 481 53384 6.23 0 Cytoplasmic granule membrane;Secreted NA PE1 20 +NX_P18433 802 90719 6.23 1 Cytoplasmic vesicle;Nucleus;Membrane NA PE1 20 +NX_P18440 290 33899 6.09 0 Cytoplasm NA PE1 8 +NX_P18462 365 41218 6.09 1 Membrane NA PE1 6 +NX_P18463 362 40456 5.78 1 Membrane NA PE1 6 +NX_P18464 362 40566 5.96 1 Membrane NA PE1 6 +NX_P18465 362 40224 5.89 1 Membrane NA PE1 6 +NX_P18505 474 54235 8.88 4 Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, early infantile, 45 PE1 4 +NX_P18507 467 54162 8.72 4 Dendrite;Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane Generalized epilepsy with febrile seizures plus 3;Epilepsy, childhood absence 2;Febrile seizures, familial, 8 PE1 5 +NX_P18509 176 18835 9.83 0 Secreted NA PE1 18 +NX_P18510 177 20055 5.83 0 Cytoplasm;Secreted Microvascular complications of diabetes 4;Interleukin 1 receptor antagonist deficiency PE1 2 +NX_P18545 87 9643 9.52 0 NA Retinitis pigmentosa 57 PE1 17 +NX_P18564 788 85936 5.34 1 Nucleoplasm;Centrosome;Focal adhesion;Cell junction;Membrane Amelogenesis imperfecta 1H PE1 2 +NX_P18577 417 45560 9.45 11 Membrane Rh-null, amorph type PE1 1 +NX_P18583 2426 263830 5.5 0 Nucleus speckle;Nucleus ZTTK syndrome PE1 21 +NX_P18615 380 43240 9.36 0 Nucleoplasm;Nucleus NA PE1 6 +NX_P18621 184 21397 10.18 0 Cytosol;Endoplasmic reticulum NA PE1 18 +NX_P18627 525 57449 8.14 1 Membrane NA PE1 12 +NX_P18669 254 28804 6.67 0 NA NA PE1 10 +NX_P18754 421 44969 7.18 0 Cytoplasm;Nucleus;Chromosome;Nucleus membrane NA PE1 1 +NX_P18825 462 49522 10.32 7 Cell membrane NA PE2 4 +NX_P18827 310 32462 4.53 1 Focal adhesion;Secreted;Exosome;Membrane NA PE1 2 +NX_P18846 271 29233 8.44 0 Nucleoplasm;Nucleus Angiomatoid fibrous histiocytoma PE1 12 +NX_P18847 181 20576 8.8 0 Nucleolus;Nucleus NA PE1 1 +NX_P18848 351 38590 4.83 0 Cytosol;Cytoplasm;Cell membrane;Microtubule organizing center;Nucleus;Centrosome NA PE1 22 +NX_P18850 670 74585 8.36 1 Cytosol;Endoplasmic reticulum membrane;Nucleus Achromatopsia 7 PE1 1 +NX_P18858 919 101736 5.49 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Golgi apparatus NA PE1 19 +NX_P18859 108 12588 9.52 0 Mitochondrion;Mitochondrion inner membrane NA PE1 21 +NX_P18887 633 69477 6.02 0 Nucleoplasm;Nucleus Spinocerebellar ataxia, autosomal recessive, 26 PE1 19 +NX_P19012 456 49212 4.71 0 Nucleoplasm;Cytoskeleton NA PE1 17 +NX_P19013 534 57285 6.25 0 Cytoskeleton White sponge nevus 1 PE1 12 +NX_P19021 973 108332 5.98 1 Cytosol;Secreted;Golgi apparatus;Membrane NA PE1 5 +NX_P19022 906 99809 4.64 1 Sarcolemma;Cell surface;Cell junction;Cell membrane NA PE1 18 +NX_P19075 237 26044 5.48 4 Nucleoplasm;Membrane NA PE1 12 +NX_P19086 355 40924 7.53 0 Cytoplasmic vesicle;Membrane NA PE1 22 +NX_P19087 354 40176 5.1 0 NA Achromatopsia 4 PE1 1 +NX_P19099 503 57560 9.47 0 Mitochondrion membrane Hyperaldosteronism, familial, 1;Corticosterone methyloxidase 1 deficiency;Corticosterone methyloxidase 2 deficiency PE1 8 +NX_P19105 171 19794 4.67 0 NA NA PE1 18 +NX_P19113 662 74141 8.3 0 NA NA PE1 15 +NX_P19174 1290 148532 5.73 0 Cytosol;Lamellipodium;Ruffle NA PE1 20 +NX_P19224 532 60751 8.66 1 Endoplasmic reticulum membrane;Microsome NA PE1 2 +NX_P19235 508 55065 4.64 1 Cytoplasmic vesicle;Cell membrane;Secreted Erythrocytosis, familial, 1 PE1 19 +NX_P19237 187 21692 9.61 0 Nucleolus;Nucleus NA PE1 1 +NX_P19256 250 28147 6.3 1 Cell membrane NA PE1 1 +NX_P19320 739 81276 5.14 1 Cell junction;Membrane NA PE1 1 +NX_P19338 710 76614 4.6 0 Cytoplasm;Nucleolus;Nucleus NA PE1 2 +NX_P19367 917 102486 6.36 0 Mitochondrion;Mitochondrion outer membrane Neuropathy, hereditary motor and sensory, Russe type;Retinitis pigmentosa 79;Hexokinase deficiency PE1 10 +NX_P19387 275 31441 4.79 0 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus NA PE1 16 +NX_P19388 210 24551 5.69 0 Nucleoplasm;Nucleus NA PE1 19 +NX_P19397 219 24341 7.48 4 Cell junction;Cell membrane;Membrane NA PE1 1 +NX_P19404 249 27392 8.22 0 Mitochondrion;Mitochondrion inner membrane NA PE1 18 +NX_P19419 428 44888 6.42 0 Nucleoplasm;Nucleus NA PE1 X +NX_P19429 210 24008 9.87 0 Cytosol;Cytoplasmic vesicle Cardiomyopathy, dilated 1FF;Cardiomyopathy, dilated 2A;Cardiomyopathy, familial restrictive 1;Cardiomyopathy, familial hypertrophic 7 PE1 19 +NX_P19438 455 50495 6.23 1 Golgi apparatus membrane;Cell membrane;Secreted Multiple sclerosis 5;Familial hibernian fever PE1 12 +NX_P19440 569 61410 6.65 1 Cell membrane Glutathionuria PE1 22 +NX_P19447 782 89278 6.83 0 Nucleoplasm;Nucleus Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum complementation group B PE1 2 +NX_P19474 475 54170 5.98 0 Nucleoplasm;Cytoplasm;P-body;Nucleus;Autophagosome NA PE1 11 +NX_P19484 476 52865 5.87 0 Cytoplasm;Nucleus NA PE1 6 +NX_P19525 551 62094 8.58 0 Cytosol;Cytoplasm;Perinuclear region;Nucleus NA PE1 2 +NX_P19526 365 41251 6.92 1 Golgi stack membrane NA PE1 19 +NX_P19532 575 61521 5.41 0 Cytosol;Nucleoplasm;Nucleus NA PE1 X +NX_P19544 449 49188 9.23 0 Nucleoplasm;Nucleus speckle;Nucleolus;Nucleus;Cytoplasm Frasier syndrome;Denys-Drash syndrome;Mesothelioma, malignant;Meacham syndrome;Nephrotic syndrome 4;Wilms tumor 1 PE1 11 +NX_P19622 333 34211 9.49 0 Nucleolus;Nucleus NA PE1 7 +NX_P19623 302 33825 5.3 0 Nucleoplasm;Cytosol NA PE1 1 +NX_P19634 815 90763 6.74 12 Endoplasmic reticulum membrane;Cell membrane;Membrane Lichtenstein-Knorr syndrome PE1 1 +NX_P19652 201 23603 5.03 0 Secreted NA PE1 9 +NX_P19784 350 41213 8.65 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol NA PE1 16 +NX_P19793 462 50811 7.92 0 Nucleus;Golgi apparatus NA PE1 9 +NX_P19801 751 85378 6.6 0 Extracellular space NA PE1 7 +NX_P19823 946 106463 6.4 0 Golgi apparatus;Secreted NA PE1 10 +NX_P19827 911 101389 6.31 0 Cytoplasmic vesicle;Secreted NA PE1 3 +NX_P19835 753 79322 5.13 0 Secreted Maturity-onset diabetes of the young 8 with exocrine dysfunction PE1 9 +NX_P19838 968 105356 5.2 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Immunodeficiency, common variable, 12 PE1 4 +NX_P19875 107 11389 10.57 0 Secreted NA PE1 4 +NX_P19876 107 11342 10.4 0 Secreted NA PE1 4 +NX_P19878 526 59762 5.88 0 Cytosol;Cytoplasm;Nucleolus Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive PE1 1 +NX_P19883 344 38007 5.53 0 Secreted NA PE1 5 +NX_P19957 117 12270 9.14 0 Cell membrane;Secreted NA PE1 20 +NX_P19961 511 57710 6.64 0 Secreted NA PE1 1 +NX_P19971 482 49955 5.36 0 Nucleus;Golgi apparatus Mitochondrial DNA depletion syndrome 1, MNGIE type PE1 22 +NX_P20020 1220 134685 5.65 10 Cell membrane NA PE1 12 +NX_P20023 1033 112916 7.74 1 Membrane Immunodeficiency, common variable, 7;Systemic lupus erythematosus 9 PE1 1 +NX_P20036 260 29381 5.07 1 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane NA PE1 6 +NX_P20039 266 30160 6.71 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA PE1 6 +NX_P20042 333 38388 5.6 0 Cytoplasm;Nucleolus;Endoplasmic reticulum NA PE1 20 +NX_P20061 433 48207 4.96 0 Secreted NA PE1 11 +NX_P20062 427 47535 6.52 0 Cytosol;Secreted Transcobalamin II deficiency PE1 22 +NX_P20073 488 52739 5.52 0 Nucleoplasm;Cytosol NA PE1 10 +NX_P20132 328 34625 8.15 0 Cytosol;Cytoplasm;Mitochondrion NA PE1 12 +NX_P20138 364 39825 8.68 1 Nucleus;Cell membrane;Peroxisome NA PE1 19 +NX_P20142 388 42426 4.36 0 Nucleus;Secreted NA PE1 6 +NX_P20151 261 28671 6.44 0 NA NA PE1 19 +NX_P20155 84 9291 9.3 0 Secreted NA PE1 4 +NX_P20160 251 26886 9.75 0 Cytoplasmic granule membrane NA PE1 19 +NX_P20226 339 37698 9.8 0 Nucleoplasm;Nucleus Spinocerebellar ataxia 17 PE1 6 +NX_P20231 275 30515 6.62 0 Secreted NA PE1 16 +NX_P20248 432 48551 6.1 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 4 +NX_P20264 500 50327 7.51 0 Nucleus NA PE1 2 +NX_P20265 443 46893 7.51 0 Nucleus NA PE1 6 +NX_P20273 847 95348 6.21 1 Cell membrane NA PE1 19 +NX_P20290 206 22168 9.41 0 Cytosol;Cytoplasm;Nucleus NA PE1 5 +NX_P20292 161 18157 8.58 4 Endoplasmic reticulum membrane;Nucleus membrane Ischemic stroke PE1 13 +NX_P20309 590 66128 9.33 7 Basolateral cell membrane;Postsynaptic cell membrane;Cell membrane Prune belly syndrome PE1 1 +NX_P20333 461 48291 5.88 1 Cell membrane;Secreted NA PE1 1 +NX_P20336 220 24984 4.85 0 Nucleoplasm;Cytosol;Centrosome;Cell membrane NA PE1 19 +NX_P20337 219 24758 4.85 0 Golgi apparatus;Cell junction;Cell membrane NA PE1 1 +NX_P20338 218 24390 5.82 0 Cytoplasm;Early endosome membrane;Recycling endosome membrane;Membrane NA PE1 1 +NX_P20339 215 23659 8.32 0 Endosome membrane;Ruffle;Cytosol;Early endosome membrane;Cell membrane;Cytoplasmic vesicle;Membrane;Phagosome membrane;Melanosome NA PE1 3 +NX_P20340 208 23593 5.42 0 Golgi apparatus membrane NA PE1 11 +NX_P20366 129 15003 8.89 0 Secreted NA PE1 7 +NX_P20382 165 18679 6.74 0 Secreted NA PE1 12 +NX_P20393 614 66805 8.83 0 Dendrite;Nucleus;Dendritic spine;Cytoplasm NA PE1 17 +NX_P20396 242 27404 5.34 0 Secreted NA PE1 3 +NX_P20472 110 12059 4.98 0 Nucleoplasm;Nucleolus;Cell junction NA PE1 22 +NX_P20585 1137 127412 8.2 0 Nucleus Endometrial cancer;Familial adenomatous polyposis 4 PE1 5 +NX_P20591 662 75520 5.6 0 Endoplasmic reticulum membrane;Nucleus membrane;Cytosol;Cytoplasm;Perinuclear region;Nucleus NA PE1 21 +NX_P20592 715 82089 8.91 0 Cytoplasm;Nuclear pore complex;Nucleus NA PE1 21 +NX_P20594 1047 117022 6.41 1 Cell membrane Epiphyseal chondrodysplasia, Miura type;Short stature with non-specific skeletal abnormalities;Acromesomelic dysplasia, Maroteaux type PE1 9 +NX_P20618 241 26489 8.27 0 Cytoplasm;Nucleus NA PE1 6 +NX_P20645 277 30993 5.57 1 Lysosome membrane NA PE1 12 +NX_P20648 1035 114119 5.58 10 Cell membrane NA PE1 19 +NX_P20671 130 14107 10.9 0 Nucleus;Chromosome NA PE1 6 +NX_P20674 150 16762 6.3 0 Mitochondrion inner membrane NA PE1 15 +NX_P20700 586 66408 5.11 0 Nucleus inner membrane;Nucleus;Nucleus membrane Leukodystrophy, demyelinating, autosomal dominant, adult-onset PE1 5 +NX_P20701 1170 128770 5.4 1 Cell membrane NA PE1 16 +NX_P20702 1163 127829 6.19 1 Membrane NA PE1 16 +NX_P20711 480 53926 6.77 0 Cytoskeleton Aromatic L-amino-acid decarboxylase deficiency PE1 7 +NX_P20718 246 27315 9.83 0 Cytoplasmic granule NA PE1 14 +NX_P20719 270 29345 9.32 0 Nucleus NA PE1 7 +NX_P20742 1482 163863 5.97 0 Secreted NA PE1 12 +NX_P20749 454 47584 8.72 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Perinuclear region;Nucleus;Midbody NA PE1 19 +NX_P20774 298 33922 5.46 0 Endoplasmic reticulum;Extracellular matrix NA PE1 9 +NX_P20783 257 29355 9.46 0 Secreted NA PE1 12 +NX_P20794 623 70581 9.67 0 Photoreceptor outer segment;Midbody;Nucleus;Photoreceptor inner segment;Spindle;Centrosome Retinitis pigmentosa 62 PE1 6 +NX_P20800 178 19960 10.3 0 Cytosol;Secreted NA PE1 1 +NX_P20807 821 94254 5.81 0 Cytoplasm Limb-girdle muscular dystrophy 2A PE1 15 +NX_P20809 199 21429 10.64 0 Mitochondrion;Secreted NA PE1 19 +NX_P20810 708 76573 4.98 0 Cytosol;Cytoplasm;Endoplasmic reticulum Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads PE1 5 +NX_P20813 491 56278 8.43 0 Endoplasmic reticulum membrane;Microsome membrane;Cytosol;Nucleus membrane;Nucleoplasm NA PE1 19 +NX_P20815 502 57109 8.86 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 7 +NX_P20823 631 67356 5.82 0 Nucleoplasm;Nucleus Diabetes mellitus, insulin-dependent, 20;Hepatic adenomas familial;Maturity-onset diabetes of the young 3 PE1 12 +NX_P20827 205 23787 6.34 0 Cell membrane;Secreted NA PE1 1 +NX_P20839 514 55406 6.43 0 Cytoplasm;Nucleus Leber congenital amaurosis 11;Retinitis pigmentosa 10 PE1 7 +NX_P20848 420 47891 7.73 0 Endoplasmic reticulum NA PE1 14 +NX_P20849 921 91869 8.94 0 Extracellular matrix Multiple epiphyseal dysplasia 6;Stickler syndrome 4 PE1 6 +NX_P20851 252 28357 5.05 0 Secreted NA PE1 1 +NX_P20853 494 56425 7.69 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 19 +NX_P20908 1838 183560 4.94 0 Cytoplasmic vesicle;Extracellular matrix Ehlers-Danlos syndrome, classic type, 1 PE1 9 +NX_P20916 626 69069 4.97 1 Membrane raft;Cell membrane Spastic paraplegia 75, autosomal recessive PE1 19 +NX_P20929 6669 772914 9.11 0 Sarcomere;Cytoskeleton Nemaline myopathy 2 PE1 2 +NX_P20930 4061 435170 9.24 0 Cytoplasmic vesicle;Cytoplasmic granule Dermatitis atopic 2;Ichthyosis vulgaris PE1 1 +NX_P20933 346 37208 5.86 0 Lysosome Aspartylglucosaminuria PE1 4 +NX_P20936 1047 116403 6.11 0 Cytoplasm Parkes Weber syndrome;Capillary malformation-arteriovenous malformation PE1 5 +NX_P20941 246 28246 5.08 0 Photoreceptor inner segment;Cytosol;Nucleus;Photoreceptor outer segment NA PE1 1 +NX_P20962 102 11530 4.14 0 Nucleolus;Nucleus NA PE1 12 +NX_P20963 164 18696 9.28 1 Membrane Immunodeficiency 25 PE1 1 +NX_P21108 318 34839 5.92 0 NA NA PE1 7 +NX_P21127 795 92620 5.42 0 Cytoplasm;Nucleus NA PE1 1 +NX_P21128 410 46872 5.26 0 Secreted NA PE1 12 +NX_P21145 153 16714 5.55 4 Centrosome;Golgi apparatus;Membrane NA PE1 2 +NX_P21217 361 42117 9.16 1 Golgi stack membrane NA PE1 19 +NX_P21246 168 18942 9.66 0 Golgi apparatus;Secreted NA PE1 7 +NX_P21266 225 26560 5.37 0 Cytoplasm NA PE1 1 +NX_P21281 511 56501 5.57 0 Cytoplasmic vesicle;Melanosome;Endomembrane system Zimmermann-Laband syndrome 2;Deafness, congenital, with onychodystrophy, autosomal dominant PE1 8 +NX_P21283 382 43942 7.02 0 Cytosol;Nucleoplasm NA PE1 8 +NX_P21291 193 20567 8.9 0 Nucleus NA PE1 1 +NX_P21333 2647 280739 5.7 0 Cytosol;Cytoskeleton;Cell cortex;Cell membrane FG syndrome 2;Frontometaphyseal dysplasia 1;Periventricular nodular heterotopia 1;Cardiac valvular dysplasia X-linked;Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked;Otopalatodigital syndrome 1;Melnick-Needles syndrome;Otopalatodigital syndrome 2;Terminal osseous dysplasia;Congenital short bowel syndrome, X-linked PE1 X +NX_P21359 2839 319372 7.1 0 Mitochondrion;Nucleolus;Nucleus Familial spinal neurofibromatosis;Colorectal cancer;Neurofibromatosis-Noonan syndrome;Neurofibromatosis 1;Leukemia, juvenile myelomonocytic;Watson syndrome PE1 17 +NX_P21397 527 59682 7.94 1 Mitochondrion;Mitochondrion outer membrane Brunner syndrome PE1 X +NX_P21399 889 98399 6.23 0 Cytosol;Cytoplasm;Mitochondrion NA PE1 9 +NX_P21439 1286 141523 8.65 12 Apical cell membrane;Nucleoplasm;Cytoplasm;Cell membrane;Focal adhesion;Cytoskeleton;Clathrin-coated vesicle;Membrane raft Gallbladder disease 1;Cholestasis of pregnancy, intrahepatic 3;Cholestasis, progressive familial intrahepatic, 3 PE1 7 +NX_P21452 398 44442 8.86 7 Cell membrane NA PE1 10 +NX_P21453 382 42811 9.59 7 Cytoplasmic vesicle;Endosome;Membrane raft;Cell membrane NA PE1 1 +NX_P21462 350 38446 9.23 7 Nucleolus;Nucleus;Cell membrane;Golgi apparatus NA PE1 19 +NX_P21506 573 66455 8.68 0 Cytoplasmic vesicle;Nucleus;Cell membrane NA PE1 12 +NX_P21549 392 43010 8.61 0 Mitochondrion;Cytoplasmic vesicle;Peroxisome Hyperoxaluria primary 1 PE1 2 +NX_P21554 472 52858 8.47 7 Axon;Membrane raft;Cell membrane;Mitochondrion outer membrane Obesity PE1 6 +NX_P21579 422 47573 8.26 1 Cytoplasm;Synaptic vesicle membrane;Chromaffin granule membrane;Secretory vesicle membrane NA PE1 12 +NX_P21580 790 89614 8.61 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Lysosome Autoinflammatory syndrome, familial, Behcet-like PE1 6 +NX_P21583 273 30899 5.86 1 Secreted;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Filopodium;Lamellipodium;Cytoskeleton Deafness, congenital, unilateral or asymmetric;Hyperpigmentation with or without hypopigmentation, familial progressive PE1 12 +NX_P21589 574 63368 6.58 0 Cytosol;Nucleoplasm;Cell membrane Calcification of joints and arteries PE1 6 +NX_P21673 171 20024 5.09 0 Cytoplasm;Nucleus Keratosis follicularis spinulosa decalvans X-linked PE1 X +NX_P21675 1872 212677 4.97 0 Nucleoplasm;Nucleus Mental retardation, X-linked, syndromic, 33;Dystonia 3, torsion, X-linked PE1 X +NX_P21695 349 37568 5.81 0 Cytoplasm Hypertriglyceridemia, transient infantile PE1 12 +NX_P21709 976 108127 6.2 1 Cell membrane NA PE1 7 +NX_P21728 446 49293 8.64 7 Endoplasmic reticulum membrane;Cell membrane NA PE1 5 +NX_P21730 350 39336 9.22 7 Cytoplasmic vesicle;Cell membrane NA PE1 19 +NX_P21731 343 37431 10 7 Nucleus speckle;Cell membrane Bleeding disorder, platelet-type 13 PE1 19 +NX_P21741 143 15585 9.84 0 Cytoplasmic vesicle;Secreted NA PE1 11 +NX_P21754 424 47018 5.49 1 Cytoplasm;Cell membrane;Extracellular matrix Oocyte maturation defect 3 PE1 7 +NX_P21757 451 49762 5.61 1 Membrane Barrett esophagus;Prostate cancer PE1 8 +NX_P21781 194 22509 9.29 0 Nucleolus;Nucleus;Secreted NA PE1 15 +NX_P21796 283 30773 8.62 19 Cytosol;Membrane raft;Cell membrane;Mitochondrion outer membrane NA PE1 5 +NX_P21802 821 92025 5.61 1 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Secreted Lacrimo-auriculo-dento-digital syndrome;Pfeiffer syndrome;Familial scaphocephaly syndrome;Saethre-Chotzen syndrome;Crouzon syndrome;Jackson-Weiss syndrome;Beare-Stevenson cutis gyrata syndrome;Bent bone dysplasia syndrome;Apert syndrome;Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis PE1 10 +NX_P21810 368 41654 7.16 0 Endoplasmic reticulum;Golgi apparatus;Extracellular matrix Meester-Loeys syndrome;Spondyloepimetaphyseal dysplasia, X-linked PE1 X +NX_P21815 317 35148 4.14 0 Secreted NA PE1 4 +NX_P21817 5038 565176 5.18 6 Cytoplasmic vesicle;Cytosol;Sarcoplasmic reticulum;Golgi apparatus;Sarcoplasmic reticulum membrane Central core disease of muscle;Multiminicore disease with external ophthalmoplegia;Malignant hyperthermia 1 PE1 19 +NX_P21854 359 40220 8.62 1 Mitochondrion;Nucleus;Membrane NA PE1 9 +NX_P21860 1342 148098 6.11 1 Cytoskeleton;Cell membrane;Secreted Lethal congenital contracture syndrome 2 PE1 12 +NX_P21912 280 31630 9.03 0 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane;Cell membrane Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 4 PE1 1 +NX_P21917 467 48361 8.79 7 Cell membrane NA PE1 11 +NX_P21918 477 52951 5.23 7 Cell membrane Benign essential blepharospasm PE1 4 +NX_P21926 228 25416 6.8 4 Cytoplasm;Exosome;Cell membrane;Membrane NA PE1 12 +NX_P21941 496 53701 7.85 0 Extracellular matrix NA PE1 1 +NX_P21953 392 43122 5.89 0 Mitochondrion matrix Maple syrup urine disease 1B PE1 6 +NX_P21964 271 30037 5.26 1 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Endoplasmic reticulum Schizophrenia PE1 22 +NX_P21980 687 77329 5.11 0 Cytosol;Cell membrane NA PE1 20 +NX_P22001 575 63842 5.61 6 Cell membrane NA PE1 1 +NX_P22003 454 51737 9.07 0 Secreted NA PE1 6 +NX_P22004 513 57226 8.39 0 Mitochondrion;Secreted NA PE1 6 +NX_P22033 750 83134 6.48 0 Mitochondrion matrix;Mitochondrion;Cytosol Methylmalonic aciduria type mut PE1 6 +NX_P22059 807 89421 6.91 0 Endoplasmic reticulum membrane;Golgi apparatus;Cytosol;Perinuclear region;Nucleus;trans-Golgi network;Golgi apparatus membrane NA PE1 11 +NX_P22061 227 24636 6.7 0 Cytosol;Cytoplasm NA PE1 6 +NX_P22079 712 80288 8.89 0 Secreted NA PE1 17 +NX_P22083 530 59084 10.04 1 Cytoplasmic vesicle;Golgi stack membrane NA PE1 11 +NX_P22087 321 33784 10.18 0 Nucleolus;Nucleus NA PE1 19 +NX_P22090 263 29456 10.25 0 NA NA PE1 Y +NX_P22102 1010 107767 6.26 0 Cytosol;Mitochondrion;Nucleoplasm NA PE1 21 +NX_P22105 4244 458388 5.05 0 Extracellular matrix Vesicoureteral reflux 8;Ehlers-Danlos syndrome, classic-like PE1 6 +NX_P22223 829 91418 4.61 1 Cytosol;Cell junction;Cell membrane Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome;Hypotrichosis congenital with juvenile macular dystrophy PE1 16 +NX_P22234 425 47079 6.94 0 Cytosol NA PE1 4 +NX_P22301 178 20517 8.19 0 Secreted NA PE1 1 +NX_P22303 614 67796 5.87 0 Synapse;Golgi apparatus;Secreted;Cell membrane;Cytoplasmic vesicle;Nucleus NA PE1 7 +NX_P22304 550 61873 5.21 0 Endoplasmic reticulum;Lysosome Mucopolysaccharidosis 2 PE1 X +NX_P22307 547 58994 6.44 0 Mitochondrion;Cytoplasm;Peroxisome Leukoencephalopathy with dystonia and motor neuropathy PE1 1 +NX_P22309 533 59591 8.19 1 Endoplasmic reticulum membrane;Microsome;Endoplasmic reticulum Crigler-Najjar syndrome 1;Crigler-Najjar syndrome 2;Transient familial neonatal hyperbilirubinemia;Gilbert syndrome PE1 2 +NX_P22310 534 60025 8.79 1 Endoplasmic reticulum membrane;Microsome NA PE1 2 +NX_P22314 1058 117849 5.49 0 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus Spinal muscular atrophy X-linked 2 PE1 X +NX_P22352 226 25552 8.26 0 Secreted NA PE1 5 +NX_P22362 96 10992 9.3 0 Secreted NA PE1 17 +NX_P22392 152 17298 8.52 0 Cytoplasm;Nucleus;Ruffle;Lamellipodium NA PE1 17 +NX_P22413 925 104924 6.76 1 Basolateral cell membrane;Cell membrane;Secreted Ossification of the posterior longitudinal ligament of the spine;Hypophosphatemic rickets, autosomal recessive, 2;Diabetes mellitus, non-insulin-dependent;Arterial calcification of infancy, generalized, 1;Cole disease PE1 6 +NX_P22415 310 33538 5.36 0 Nucleoplasm;Nucleus Hyperlipidemia combined 1 PE1 1 +NX_P22455 802 87954 6.36 1 Cytoplasm;Endosome;Endoplasmic reticulum;Cell membrane;Secreted Prostate cancer PE1 5 +NX_P22459 653 73257 5.08 6 Axon;Cell membrane NA PE1 11 +NX_P22460 613 67228 5.68 6 Cell membrane Atrial fibrillation, familial, 7 PE1 12 +NX_P22466 123 13302 6.84 0 Cytoplasmic vesicle;Golgi apparatus;Secreted Epilepsy, familial temporal lobe, 8 PE1 11 +NX_P22492 207 22019 11.71 0 Nucleus;Chromosome NA PE1 6 +NX_P22528 89 9888 8.85 0 Cytoplasm NA PE1 1 +NX_P22531 72 7855 8.73 0 Cytoplasm NA PE2 1 +NX_P22532 72 7905 8.77 0 Cytoplasm NA PE2 1 +NX_P22557 587 64633 8.39 0 Mitochondrion matrix Erythropoietic protoporphyria, X-linked dominant;Anemia, sideroblastic, 1 PE1 X +NX_P22570 491 53837 8.72 0 Mitochondrion;Mitochondrion inner membrane Auditory neuropathy and optic atrophy PE1 17 +NX_P22607 806 87710 5.59 1 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane;Secreted Muenke syndrome;Testicular germ cell tumor;Lacrimo-auriculo-dento-digital syndrome;Keratosis, seborrheic;Bladder cancer;Keratinocytic non-epidermolytic nevus;Multiple myeloma;Achondroplasia;Camptodactyly, tall stature, and hearing loss syndrome;Thanatophoric dysplasia 1;Achondroplasia, severe, with developmental delay and acanthosis nigricans;Hypochondroplasia;Thanatophoric dysplasia 2;Crouzon syndrome with acanthosis nigricans;Cervical cancer PE1 4 +NX_P22612 351 40434 8.7 0 NA Bleeding disorder, platelet-type 19 PE1 9 +NX_P22626 353 37430 8.97 0 Nucleoplasm;Cytoplasm;Nucleus;Exosome;Cytoplasmic granule Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 PE1 7 +NX_P22670 979 104758 5.89 0 Nucleoplasm;Nucleus NA PE1 19 +NX_P22674 350 38096 8.44 0 Cytoplasm Ciliary dyskinesia, primary, 29 PE1 5 +NX_P22676 271 31540 5.06 0 Cytosol NA PE1 16 +NX_P22680 504 57661 8.48 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 8 +NX_P22681 906 99633 6.1 0 Cytosol;Cytoplasm;Golgi apparatus;Cilium;Cell membrane Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia PE1 11 +NX_P22692 258 27934 6.81 0 Secreted NA PE1 17 +NX_P22694 351 40623 8.84 0 Cytoplasm;Nucleus;Cell membrane;Membrane NA PE1 1 +NX_P22695 453 48443 8.74 0 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 5 PE1 16 +NX_P22732 501 54974 5.81 12 Apical cell membrane;Sarcolemma;Cell membrane NA PE1 1 +NX_P22735 817 89787 5.68 0 Membrane Ichthyosis, congenital, autosomal recessive 1 PE1 14 +NX_P22736 598 64463 6.82 0 Cytosol;Cytoplasm;Nucleus NA PE1 12 +NX_P22748 312 35032 7.68 0 Cytoplasmic vesicle;Cell membrane Retinitis pigmentosa 17 PE1 17 +NX_P22749 145 16374 9.39 0 Secreted NA PE1 2 +NX_P22760 399 45734 8.75 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 3 +NX_P22792 545 60557 5.63 0 Secreted NA PE1 3 +NX_P22794 236 26213 8.73 1 Nucleoplasm;Nucleus;Membrane NA PE1 17 +NX_P22830 423 47862 8.96 0 Mitochondrion inner membrane Protoporphyria, erythropoietic, 1 PE1 18 +NX_P22888 699 78643 8.82 7 Cell membrane Familial male precocious puberty;Luteinizing hormone resistance PE1 2 +NX_P22891 400 44744 5.64 0 Secreted NA PE1 13 +NX_P22894 467 53412 6.38 0 Cytoplasmic granule;Extracellular matrix NA PE1 11 +NX_P22897 1456 166012 6.11 1 Endosome membrane;Cell membrane NA PE1 10 +NX_P22914 178 21007 6.44 0 Cytosol Cataract 20, multiple types PE1 3 +NX_P23025 273 31368 6.29 0 Cytoskeleton;Nucleus Xeroderma pigmentosum complementation group A PE1 9 +NX_P23083 117 13085 9.23 0 Cell membrane;Secreted NA PE1 14 +NX_P23109 780 90219 6.53 0 NA Myopathy due to myoadenylate deaminase deficiency PE1 1 +NX_P23141 567 62521 6.15 0 Endoplasmic reticulum lumen;Endoplasmic reticulum NA PE1 16 +NX_P23142 703 77214 5.07 0 Endoplasmic reticulum;Extracellular matrix NA PE1 22 +NX_P23193 301 33970 8.65 0 Nucleolus;Nucleus NA PE1 8 +NX_P23219 599 68686 6.81 0 Endoplasmic reticulum membrane;Microsome membrane;Cytoplasmic vesicle;Golgi apparatus NA PE1 9 +NX_P23229 1130 126606 6.21 1 Cell membrane Epidermolysis bullosa letalis, with pyloric atresia PE1 2 +NX_P23246 707 76149 9.45 0 Nucleoplasm;Cytoplasm;Nucleus matrix;Nucleus speckle NA PE1 1 +NX_P23258 451 51170 5.75 0 Centrosome Cortical dysplasia, complex, with other brain malformations 4 PE1 17 +NX_P23276 732 82824 8.09 1 Cell membrane NA PE1 7 +NX_P23280 308 35367 6.51 0 Secreted NA PE1 1 +NX_P23284 216 23743 9.42 0 Nucleus;Endoplasmic reticulum lumen;Melanosome;Endoplasmic reticulum Osteogenesis imperfecta 9 PE1 15 +NX_P23297 94 10546 4.39 0 Cytoplasm NA PE1 1 +NX_P23327 699 80244 4.62 0 Sarcoplasmic reticulum lumen NA PE1 19 +NX_P23352 680 76112 9.33 0 Cell membrane;Secreted Hypogonadotropic hypogonadism 1 with or without anosmia PE1 X +NX_P23368 584 65444 7.52 0 Mitochondrion matrix;Mitochondrion NA PE1 18 +NX_P23378 1020 112730 6.68 0 Mitochondrion;Nucleus Non-ketotic hyperglycinemia PE1 9 +NX_P23381 471 53165 5.83 0 Cytosol;Cytoplasm Neuronopathy, distal hereditary motor, 9 PE1 14 +NX_P23396 243 26688 9.68 0 Nucleolus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleus;Mitochondrion inner membrane;Spindle NA PE1 11 +NX_P23409 242 26953 5.71 0 Nucleus Myopathy, centronuclear, 3 PE1 12 +NX_P23415 457 52624 8.97 4 Dendrite;Synapse;Postsynaptic cell membrane;Perikaryon;Cell membrane Hyperekplexia 1 PE1 5 +NX_P23416 452 52002 9.06 4 Cell projection;Synapse;Postsynaptic cell membrane;Cell membrane NA PE1 X +NX_P23434 173 18885 4.91 0 Cytoplasmic vesicle;Mitochondrion Non-ketotic hyperglycinemia PE1 16 +NX_P23435 193 21097 6.73 0 Postsynaptic cell membrane;Secreted NA PE1 16 +NX_P23443 525 59140 6.21 0 Synaptosome;Nucleoplasm;Cytoplasm;Mitochondrion outer membrane;Nucleus;Mitochondrion NA PE1 17 +NX_P23458 1154 133277 7.48 0 Endomembrane system NA PE1 1 +NX_P23467 1997 224301 7.44 1 Cytoplasmic vesicle;Cell junction;Cell membrane;Membrane NA PE1 12 +NX_P23468 1912 214760 6.14 1 Cytoplasmic vesicle;Membrane NA PE1 9 +NX_P23469 700 80642 6.57 1 Cytoplasm;Cytoskeleton;Cell membrane NA PE1 10 +NX_P23470 1445 162003 5.99 1 Membrane NA PE1 3 +NX_P23471 2315 254587 4.76 1 Cytosol;Cell membrane;Secreted NA PE1 7 +NX_P23490 312 25761 8.5 0 Nucleoplasm;Cytoplasm Vohwinkel syndrome with ichthyosis PE1 1 +NX_P23497 879 100417 8.49 0 PML body;Nucleus;Cytoplasm NA PE1 2 +NX_P23508 829 93027 5.4 0 Nucleoplasm;Lamellipodium;Nucleus;Cell membrane;Cytoplasm NA PE1 5 +NX_P23510 183 21050 6.95 1 Cytoplasmic vesicle;Nucleus;Membrane Systemic lupus erythematosus PE1 1 +NX_P23511 347 36877 8.89 0 Nucleoplasm;Nucleus NA PE1 6 +NX_P23515 440 49608 8.06 0 Cell membrane NA PE1 17 +NX_P23526 432 47716 5.92 0 Cytosol;Cytoplasm;Melanosome Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency PE1 20 +NX_P23527 126 13906 10.31 0 Nucleus;Chromosome NA PE1 6 +NX_P23528 166 18502 8.22 0 Lamellipodium;Cytoskeleton;Nucleus matrix;Lamellipodium membrane;Ruffle membrane NA PE1 11 +NX_P23560 247 27818 9.01 0 Mitochondrion;Nucleus speckle;Secreted Congenital central hypoventilation syndrome PE1 11 +NX_P23582 126 13246 10.25 0 Secreted NA PE1 2 +NX_P23588 611 69151 5.55 0 Cytosol NA PE1 12 +NX_P23610 371 39103 6.37 0 Nucleus NA PE1 X +NX_P23634 1241 137920 6.19 10 Flagellum membrane;Cell membrane NA PE1 1 +NX_P23677 461 51009 7.59 0 Cytoplasmic vesicle NA PE1 15 +NX_P23743 735 82630 6.28 0 Nucleoplasm;Cytoplasmic vesicle;Mitochondrion NA PE1 12 +NX_P23759 505 55119 9.1 0 Nucleus Rhabdomyosarcoma 2 PE1 1 +NX_P23760 479 52968 8.92 0 Nucleoplasm;Nucleus Waardenburg syndrome 3;Rhabdomyosarcoma 2;Craniofacial-deafness-hand syndrome;Waardenburg syndrome 1 PE1 2 +NX_P23763 118 12902 6.24 1 Synaptosome;Synaptic vesicle membrane;Cytoplasmic vesicle membrane;Mitochondrion outer membrane Spastic ataxia 1, autosomal dominant PE1 12 +NX_P23769 480 50500 9.43 0 Nucleoplasm;Nucleus Lymphedema, primary, with myelodysplasia;Myelodysplastic syndrome;Immunodeficiency 21 PE1 3 +NX_P23771 443 47916 9.52 0 Nucleoplasm;Nucleus Hypoparathyroidism, sensorineural deafness, and renal disease PE1 10 +NX_P23786 658 73777 8.38 0 Nucleoplasm;Mitochondrion;Nucleolus;Mitochondrion inner membrane Carnitine palmitoyltransferase 2 deficiency, infantile;Encephalopathy, acute, infection-induced, 4;Carnitine palmitoyltransferase 2 deficiency, lethal neonatal;Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced PE1 1 +NX_P23919 212 23819 8.4 0 Mitochondrion NA PE1 2 +NX_P23921 792 90070 6.76 0 Cytosol;Cytoplasm NA PE1 11 +NX_P23942 346 39186 8.5 4 Membrane Macular dystrophy, patterned, 1;Choroidal dystrophy, central areolar 2;Retinitis pigmentosa 7;Macular dystrophy, vitelliform, 3;Retinitis punctata albescens PE1 6 +NX_P23945 695 78265 6.77 7 Cell membrane Ovarian hyperstimulation syndrome;Ovarian dysgenesis 1 PE1 2 +NX_P23946 247 27325 9.44 0 Cytoplasmic granule;Secreted NA PE1 14 +NX_P23975 617 69332 7.18 12 Mitochondrion;Cytosol;Cell membrane Orthostatic intolerance PE1 16 +NX_P24001 234 26676 5.14 0 Secreted NA PE1 16 +NX_P24043 3122 343905 6.01 0 Basement membrane Merosin-deficient congenital muscular dystrophy 1A PE1 6 +NX_P24046 479 55883 8.71 4 Postsynaptic cell membrane;Cell membrane NA PE2 6 +NX_P24071 287 32265 6.44 1 Cell membrane;Secreted NA PE1 19 +NX_P24158 256 27807 8.72 0 Cytoplasmic granule;Membrane raft;Cell membrane;Secreted NA PE1 19 +NX_P24278 435 48990 6.09 0 Nucleoplasm;Nucleus NA PE1 14 +NX_P24298 496 54637 6.77 0 Cytoplasm NA PE1 8 +NX_P24310 79 9118 10.12 1 Mitochondrion inner membrane NA PE1 19 +NX_P24311 80 9161 10.28 1 Mitochondrion inner membrane Linear skin defects with multiple congenital anomalies 2 PE1 X +NX_P24347 488 54590 6.38 0 Extracellular matrix NA PE1 22 +NX_P24385 295 33729 4.97 0 Nucleoplasm;Cytoplasm;Nucleus;Membrane Multiple myeloma PE1 11 +NX_P24386 653 73476 4.68 0 Cytosol;Nucleoplasm Choroideremia PE1 X +NX_P24387 322 36144 6.06 0 Secreted NA PE1 5 +NX_P24390 212 24542 8.8 7 Endoplasmic reticulum membrane;COPI-coated vesicle membrane;Cytoplasmic vesicle;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus NA PE1 19 +NX_P24394 825 89658 4.99 1 Cell membrane;Secreted NA PE1 16 +NX_P24462 503 57470 9.16 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 7 +NX_P24468 414 45571 8.66 0 Nucleus Congenital heart defects, multiple types, 4 PE1 15 +NX_P24522 165 18336 4.36 0 Nucleus speckle;Nucleus NA PE1 1 +NX_P24530 442 49644 9.15 7 Cytosol;Cell membrane Hirschsprung disease 2;Waardenburg syndrome 4A;ABCD syndrome PE1 13 +NX_P24534 225 24764 4.5 0 Cytosol;Nucleolus NA PE1 2 +NX_P24539 256 28909 9.37 0 Mitochondrion;Mitochondrion inner membrane NA PE1 1 +NX_P24557 533 60518 7.56 4 Endoplasmic reticulum membrane;Cytoplasmic vesicle Ghosal hematodiaphyseal dysplasia PE1 7 +NX_P24588 427 47088 4.87 0 Nucleoplasm;Membrane NA PE1 14 +NX_P24592 240 25322 8.15 0 Secreted NA PE1 12 +NX_P24593 272 30570 8.58 0 Cytoplasmic vesicle;Nucleus;Golgi apparatus;Secreted NA PE1 2 +NX_P24666 158 18042 6.29 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_P24723 683 77828 7.94 0 Cytosol;Cytoplasm;Cell membrane Ischemic stroke PE1 14 +NX_P24752 427 45200 8.98 0 Mitochondrion 3-ketothiolase deficiency PE1 11 +NX_P24821 2201 240853 4.79 0 Extracellular matrix Deafness, autosomal dominant, 56 PE1 9 +NX_P24844 172 19827 4.8 0 NA NA PE1 20 +NX_P24855 282 31434 4.71 0 Cytoplasmic vesicle;Nucleus envelope;Endoplasmic reticulum;Secreted Systemic lupus erythematosus PE1 16 +NX_P24863 283 33243 6.95 0 Nucleoplasm;Cytosol;Nucleus NA PE1 6 +NX_P24864 410 47077 5.7 0 Nucleoplasm;Nucleus NA PE1 19 +NX_P24903 491 55501 6.93 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 19 +NX_P24928 1970 217176 7.02 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 17 +NX_P24941 298 33930 8.8 0 Cajal body;Endosome;Cytosol;Cytoplasm;Nucleoplasm;Centrosome NA PE1 12 +NX_P25021 359 40098 9.36 7 Cell membrane NA PE2 5 +NX_P25024 350 39791 8.98 7 Cell membrane NA PE1 2 +NX_P25025 360 40759 8.66 7 Cell membrane NA PE1 2 +NX_P25054 2843 311646 7.92 0 Cytoplasm;Cell membrane;Ruffle membrane;Adherens junction;Lamellipodium;Cytoskeleton Gastric cancer;Hereditary desmoid disease;Hepatocellular carcinoma;Medulloblastoma;Familial adenomatous polyposis PE1 5 +NX_P25063 80 8083 9.69 0 Cell membrane Multiple sclerosis PE1 6 +NX_P25067 703 67244 9.05 0 Basement membrane;Golgi apparatus Corneal dystrophy, Fuchs endothelial, 1;Corneal dystrophy, posterior polymorphous, 2 PE1 1 +NX_P25089 353 39965 8.12 7 Cell membrane NA PE1 19 +NX_P25090 351 38964 8.09 7 Cell membrane NA PE1 19 +NX_P25092 1073 123403 6.77 1 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cell membrane Diarrhea 6;Meconium ileus PE1 12 +NX_P25098 689 79574 6.89 0 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA PE1 11 +NX_P25100 572 60463 9.41 7 Cell membrane NA PE1 20 +NX_P25101 427 48722 8.73 7 Cell membrane Mandibulofacial dysostosis with alopecia PE1 4 +NX_P25103 407 46251 6.78 7 Cell membrane NA PE1 2 +NX_P25105 342 39203 9.2 7 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA PE1 1 +NX_P25106 362 41493 7.52 7 Cytoplasmic vesicle;Perinuclear region;Recycling endosome;Cell membrane;Early endosome NA PE1 2 +NX_P25116 425 47441 8.62 7 Cell membrane NA PE1 5 +NX_P25189 248 27555 9.57 1 Myelin membrane;Cell membrane Charcot-Marie-Tooth disease, dominant, intermediate type, D;Neuropathy, congenital hypomyelinating or amyelinating;Adie pupil;Dejerine-Sottas syndrome;Roussy-Levy syndrome;Charcot-Marie-Tooth disease 1B;Charcot-Marie-Tooth disease 2I;Charcot-Marie-Tooth disease 2J PE1 1 +NX_P25205 808 90981 5.53 0 Nucleoplasm;Nucleus NA PE1 6 +NX_P25208 207 22831 4.46 0 Nucleoplasm;Nucleus NA PE1 12 +NX_P25311 298 34259 5.71 0 Secreted NA PE1 7 +NX_P25325 297 33178 6.13 0 Mitochondrion;Cytoplasm;Cytosol;Synaptosome NA PE1 22 +NX_P25391 3075 337084 5.93 0 Basement membrane Poretti-Boltshauser syndrome PE1 18 +NX_P25398 132 14515 6.81 0 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Cytosol;Golgi apparatus NA PE1 6 +NX_P25440 801 88061 9.13 0 Nucleus speckle;Nucleus NA PE1 6 +NX_P25445 335 37732 8.29 1 Cytosol;Cell membrane;Secreted Autoimmune lymphoproliferative syndrome 1A PE1 10 +NX_P25490 414 44713 5.8 0 Nucleoplasm;Nucleus matrix;Cytoplasmic vesicle;Nucleolus;Nucleus Gabriele-de Vries syndrome PE1 14 +NX_P25685 340 38044 8.74 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 19 +NX_P25686 324 35580 5.69 0 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Nucleus membrane Distal spinal muscular atrophy, autosomal recessive, 5 PE1 2 +NX_P25705 553 59751 9.16 0 Mitochondrion;Mitochondrion inner membrane;Cell membrane Combined oxidative phosphorylation deficiency 22;Mitochondrial complex V deficiency, nuclear type 4 PE1 18 +NX_P25713 68 6927 4.79 0 NA NA PE1 16 +NX_P25774 331 37496 8.61 0 Cytoplasmic vesicle;Lysosome NA PE1 1 +NX_P25786 263 29556 6.15 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 11 +NX_P25787 234 25899 6.91 0 Cytoplasm;Nucleus NA PE1 7 +NX_P25788 255 28433 5.19 0 Cytoplasm;Cytoskeleton;Nucleus NA PE1 14 +NX_P25789 261 29484 7.58 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus NA PE1 15 +NX_P25791 158 18358 6.79 0 Cytosol;Nucleoplasm;Nucleus NA PE1 11 +NX_P25800 156 17828 8.33 0 Nucleus NA PE1 11 +NX_P25815 95 10400 4.75 0 Cytoplasm;Microvillus membrane;Nucleus NA PE1 4 +NX_P25874 307 33005 9.26 6 Mitochondrion inner membrane NA PE1 4 +NX_P25929 384 44392 7.94 7 Mitochondrion;Cytosol;Nucleus;Cell membrane NA PE1 4 +NX_P25940 1745 172121 6.44 0 Extracellular matrix NA PE1 19 +NX_P25942 277 30619 5.49 1 Cell membrane;Secreted Immunodeficiency with hyper-IgM 3 PE1 20 +NX_P25963 317 35609 4.57 0 Cytosol;Cytoplasm;Nucleus Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant PE1 14 +NX_P26006 1051 116612 6.32 1 Filopodium membrane;Invadopodium membrane;Cell membrane Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital PE1 17 +NX_P26010 798 86903 5.67 1 Cytosol;Cell membrane;Membrane NA PE1 12 +NX_P26012 769 85632 7.06 1 Cytosol;Cell membrane NA PE1 7 +NX_P26022 381 41976 4.94 0 Secreted NA PE1 3 +NX_P26038 577 67820 6.08 0 Microvillus;Microvillus membrane;Apical cell membrane;Cytoskeleton;Cell membrane Immunodeficiency 50 PE1 X +NX_P26045 913 103990 6.58 0 Cytoskeleton;Cell membrane NA PE1 9 +NX_P26196 483 54417 8.85 0 Cytosol;Cytoplasm;P-body;Nucleus NA PE1 11 +NX_P26232 953 105313 5.52 0 Cytoplasm;Cell membrane;Axon;Nucleus;Adherens junction;Cytoskeleton NA PE1 2 +NX_P26358 1616 183165 7.99 0 Nucleoplasm;Nucleus Neuropathy, hereditary sensory, 1E;Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant PE1 19 +NX_P26367 422 46683 9.45 0 Nucleoplasm;Nucleus Coloboma, ocular, autosomal dominant;Aniridia 2;Aniridia 1;Anterior segment dysgenesis 5;Bilateral optic nerve hypoplasia;Foveal hypoplasia 1;Coloboma of optic nerve;Keratitis hereditary PE1 11 +NX_P26368 475 53501 9.19 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 19 +NX_P26371 169 16276 8.34 0 NA NA PE1 11 +NX_P26373 211 24261 11.65 0 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum NA PE1 16 +NX_P26374 656 74071 4.84 0 Cytosol;Nucleoplasm NA PE1 1 +NX_P26378 380 41770 9.45 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 1 +NX_P26436 265 28156 4.68 0 Acrosome NA PE1 11 +NX_P26439 372 42052 8.12 1 Endoplasmic reticulum membrane;Mitochondrion membrane Adrenal hyperplasia 2 PE1 1 +NX_P26440 426 46651 8.27 0 Mitochondrion matrix;Nucleoplasm;Mitochondrion Isovaleric acidemia PE1 15 +NX_P26441 200 22931 6.35 0 Cytoplasmic vesicle;Cytoplasm NA PE1 11 +NX_P26447 101 11729 5.85 0 Cell membrane NA PE1 1 +NX_P26572 445 50878 9.25 1 Golgi apparatus membrane NA PE1 5 +NX_P26583 209 24034 7.62 0 Cytoplasm;Nucleolus;Nucleus;Chromosome;Secreted NA PE1 4 +NX_P26599 531 57221 9.22 0 Nucleoplasm;Nucleus NA PE1 19 +NX_P26639 723 83435 6.23 0 Cytosol;Cytoplasm;Cytoskeleton NA PE1 5 +NX_P26640 1264 140476 7.53 0 Cytosol Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy PE1 6 +NX_P26641 437 50119 6.25 0 Mitochondrion;Cytoplasm NA PE1 11 +NX_P26651 326 34003 8.86 0 P-body;Cytoplasm;Cytoplasmic vesicle;Cytoplasmic granule;Nucleus;Cytoskeleton NA PE1 19 +NX_P26678 52 6109 9.5 1 Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane;Mitochondrion membrane;Membrane Cardiomyopathy, familial hypertrophic 18;Cardiomyopathy, dilated 1P PE1 6 +NX_P26715 233 26314 8.53 1 Membrane NA PE1 12 +NX_P26717 231 26072 8.69 1 Membrane NA PE1 12 +NX_P26718 216 25274 8.56 1 Cell membrane NA PE1 12 +NX_P26842 260 29137 7.8 1 Membrane Lymphoproliferative syndrome 2 PE1 12 +NX_P26885 142 15649 9.24 0 Endoplasmic reticulum membrane;Cell membrane NA PE1 11 +NX_P26927 711 80320 7.98 0 Secreted NA PE1 3 +NX_P26951 378 43330 8.6 1 Cell membrane;Membrane NA PE1 X +NX_P26992 372 40633 6.26 0 Cell membrane NA PE1 9 +NX_P26998 211 24252 6.25 0 NA Cataract 22, multiple types PE1 22 +NX_P27037 513 57848 5.61 1 Cytosol;Membrane NA PE1 2 +NX_P27105 288 31731 7.71 0 Melanosome;Golgi apparatus;Cytosol;Cell membrane;Cytoplasmic vesicle;Cytoskeleton;Membrane raft NA PE1 9 +NX_P27144 223 25268 8.47 0 Mitochondrion;Mitochondrion matrix NA PE1 1 +NX_P27169 355 39731 5.08 0 Extracellular space Microvascular complications of diabetes 5 PE1 7 +NX_P27216 316 35415 5.47 0 Cell membrane NA PE1 8 +NX_P27338 520 58763 7.2 1 Mitochondrion;Nucleolus;Mitochondrion outer membrane NA PE1 X +NX_P27348 245 27764 4.68 0 Cytosol;Nucleoplasm;Cytoplasm NA PE1 2 +NX_P27352 417 45416 5.8 0 Secreted Hereditary intrinsic factor deficiency PE1 11 +NX_P27361 379 43136 6.28 0 Caveola;Cytoplasm;Nucleus;Nucleoplasm NA PE1 16 +NX_P27448 753 84429 9.59 0 Cytoplasm;Nucleus membrane;Cell membrane;Dendrite NA PE1 14 +NX_P27449 155 15736 7.98 4 Vacuole membrane NA PE1 16 +NX_P27469 103 11321 9.73 0 Mitochondrion NA PE1 1 +NX_P27482 149 16891 4.3 0 NA NA PE1 10 +NX_P27487 766 88279 5.67 1 Invadopodium membrane;Apical cell membrane;Secreted;Cell membrane;Membrane raft;Lamellipodium membrane;Cell junction NA PE1 2 +NX_P27539 372 39475 9.51 0 Secreted Congenital heart defects, multiple types, 6;Right atrial isomerism;Tetralogy of Fallot;Conotruncal heart malformations PE1 19 +NX_P27540 789 86636 6.11 0 Nucleus NA PE1 1 +NX_P27544 350 39536 9.17 6 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum Epilepsy, progressive myoclonic 8 PE1 19 +NX_P27635 214 24604 10.11 0 Nucleus Autism, X-linked 5;Mental retardation, X-linked, syndromic, 35 PE1 X +NX_P27658 744 73364 9.62 0 Cytoplasmic vesicle;Basement membrane NA PE1 3 +NX_P27694 616 68138 6.92 0 Nucleoplasm;PML body;Nucleus NA PE1 17 +NX_P27695 318 35555 8.33 0 Nucleus speckle;Nucleolus;Cytoplasm;Endoplasmic reticulum;Nucleus;Mitochondrion NA PE1 14 +NX_P27701 267 29626 5.14 4 Cytoplasmic vesicle;Membrane NA PE1 11 +NX_P27707 260 30519 5.14 0 Nucleus NA PE1 4 +NX_P27708 2225 242984 6.02 0 Nucleoplasm;Cytoplasm;Nucleus Epileptic encephalopathy, early infantile, 50 PE1 2 +NX_P27797 417 48142 4.29 0 Cytosol;Cell surface;Sarcoplasmic reticulum lumen;Endoplasmic reticulum lumen;Extracellular matrix NA PE1 19 +NX_P27815 886 98143 5.09 0 Cytoplasm;Perinuclear region;Cell membrane;Ruffle membrane;Membrane NA PE1 19 +NX_P27816 1152 121005 5.32 0 Cytosol;Cytoskeleton;Cell membrane NA PE1 3 +NX_P27824 592 67568 4.47 1 Endoplasmic reticulum membrane;Melanosome;Endoplasmic reticulum NA PE1 5 +NX_P27918 469 51276 8.32 0 Secreted Properdin deficiency PE1 X +NX_P27930 398 45421 8.03 1 Cell membrane;Secreted NA PE1 2 +NX_P27986 724 83598 5.84 0 Cytosol SHORT syndrome;Immunodeficiency 36;Agammaglobulinemia 7, autosomal recessive PE1 5 +NX_P27987 946 102376 8.7 0 Nucleus NA PE1 1 +NX_P28039 575 65105 8.45 0 Cytoplasmic vesicle;Cytoplasm;Secreted;Nucleus;Lysosome NA PE1 7 +NX_P28062 276 30354 7.04 0 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Nucleus Proteasome-associated autoinflammatory syndrome 1 PE1 6 +NX_P28065 219 23264 4.93 0 Cytosol;Cytoplasm;Nucleus Proteasome-associated autoinflammatory syndrome 3 PE1 6 +NX_P28066 241 26411 4.74 0 Cytosol;Cytoplasm;Nucleus NA PE1 1 +NX_P28067 261 29194 4.51 1 Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane NA PE1 6 +NX_P28068 263 28943 7.09 1 Late endosome membrane;Lysosome membrane NA PE1 6 +NX_P28069 291 32912 8.36 0 Nucleus Pituitary hormone deficiency, combined, 1 PE1 3 +NX_P28070 264 29204 5.72 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Centrosome Proteasome-associated autoinflammatory syndrome 3 PE1 1 +NX_P28072 239 25358 4.8 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 17 +NX_P28074 263 28480 6.44 0 Cytoplasm;Nucleus;Centrosome NA PE1 14 +NX_P28161 218 25745 5.99 0 Cytoplasm NA PE1 1 +NX_P28221 377 41907 9.03 7 Cell membrane NA PE1 1 +NX_P28222 390 43568 8.96 7 Cell membrane NA PE1 6 +NX_P28223 471 52603 7.83 7 Cytoplasmic vesicle;Axon;Caveola;Cell membrane;Dendrite NA PE1 13 +NX_P28288 659 75476 9.41 4 Peroxisome membrane;Peroxisome Congenital bile acid synthesis defect 5 PE1 1 +NX_P28289 359 40569 5.03 0 Cytosol;Cytoskeleton NA PE1 9 +NX_P28290 1259 138386 5.11 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 2 +NX_P28300 417 46944 8.36 0 Extracellular space;Endoplasmic reticulum;Secreted Aortic aneurysm, familial thoracic 10 PE1 5 +NX_P28324 431 46900 7.68 0 Nucleoplasm;Nucleus NA PE1 1 +NX_P28325 142 16080 6.71 0 Secreted NA PE1 20 +NX_P28328 305 34843 8.98 2 Cytoplasmic vesicle;Peroxisome membrane Peroxisome biogenesis disorder complementation group 5;Peroxisome biogenesis disorder 5A;Peroxisome biogenesis disorder 5B PE1 8 +NX_P28329 748 82536 8.9 0 NA Myasthenic syndrome, congenital, 6, presynaptic PE1 10 +NX_P28330 430 47656 7.68 0 Mitochondrion matrix NA PE1 2 +NX_P28331 727 79468 5.89 0 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency PE1 2 +NX_P28332 368 39073 8.07 0 Cytoplasm NA PE1 4 +NX_P28335 458 51821 9.13 7 Cell membrane NA PE1 X +NX_P28336 390 43435 8.93 7 Cytosol;Cell membrane NA PE1 6 +NX_P28340 1107 123631 6.64 0 Nucleoplasm;Nucleus Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome;Colorectal cancer 10 PE1 19 +NX_P28347 426 47946 8.33 0 Nucleoplasm;Nucleus Sveinsson chorioretinal atrophy PE1 11 +NX_P28356 352 36495 9.36 0 Nucleolus;Nucleus NA PE1 2 +NX_P28358 340 38411 8.62 0 Cytosol;Nucleoplasm;Nucleus Vertical talus, congenital PE1 2 +NX_P28360 303 31496 9.89 0 Nucleoplasm;Nucleus Ectodermal dysplasia 3, Witkop type;Non-syndromic orofacial cleft 5;Tooth agenesis, selective, 1 PE1 4 +NX_P28370 1054 122605 8.27 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 X +NX_P28472 473 54116 9.21 4 Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, early infantile, 43;Epilepsy, childhood absence 5 PE1 15 +NX_P28476 465 54151 9.27 4 Postsynaptic cell membrane;Cell membrane NA PE2 6 +NX_P28482 360 41390 6.5 0 Caveola;Cytoplasm;Spindle;Nucleus;Centrosome NA PE1 22 +NX_P28562 367 39298 6.78 0 Cytosol;Nucleolus;Nucleus NA PE1 5 +NX_P28566 365 41682 9.09 7 Cell membrane NA PE1 6 +NX_P28676 217 24010 5.02 0 Cytosol;Cytoplasm;Cytoplasmic granule membrane;Cell membrane NA PE1 2 +NX_P28698 734 82055 8.59 0 Nucleus NA PE1 19 +NX_P28702 533 56922 8.52 0 Nucleus NA PE1 6 +NX_P28715 1186 133108 5.13 0 Nucleoplasm;Nucleus Cerebro-oculo-facio-skeletal syndrome 3;Xeroderma pigmentosum complementation group G PE1 13 +NX_P28749 1068 120847 7.32 0 Nucleoplasm;Nucleus NA PE1 20 +NX_P28799 593 63544 6.43 0 Endosome;Secreted;Endoplasmic reticulum;Lysosome Ubiquitin-positive frontotemporal dementia;Ceroid lipofuscinosis, neuronal, 11 PE1 17 +NX_P28827 1452 163682 6.21 1 Cell membrane;Membrane NA PE1 18 +NX_P28838 519 56166 8.03 0 Cytosol;Cytoplasm;Midbody;Nucleoplasm NA PE1 4 +NX_P28845 292 32401 8.71 1 Endoplasmic reticulum membrane Cortisone reductase deficiency 2 PE1 1 +NX_P28906 385 40716 7 1 Nucleus;Cell junction;Cell membrane;Membrane NA PE1 1 +NX_P28907 300 34328 7.85 1 Cell membrane;Membrane NA PE1 4 +NX_P28908 595 63747 5.44 1 Cytoplasm;Cell membrane NA PE1 1 +NX_P29016 333 36939 5.89 1 Endosome membrane;Lysosome membrane;Cell membrane NA PE1 1 +NX_P29017 333 37654 5.7 1 Endosome membrane;Cell membrane;Lysosome NA PE1 1 +NX_P29033 226 26215 9.11 4 Mitochondrion;Gap junction;Cell membrane Keratoderma, palmoplantar, with deafness;Keratitis-ichthyosis-deafness syndrome;Vohwinkel syndrome;Deafness, autosomal recessive, 1A;Deafness, autosomal dominant, 3A;Bart-Pumphrey syndrome;Ichthyosis hystrix-like with deafness syndrome PE1 13 +NX_P29034 98 11117 4.68 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cell membrane NA PE1 1 +NX_P29074 926 105911 7.15 0 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA PE1 2 +NX_P29083 439 49452 4.74 0 Cytosol;Nucleus NA PE1 3 +NX_P29084 291 33044 9.66 0 Nucleoplasm;Cytosol;Nucleus Trichothiodystrophy 6, non-photosensitive PE1 8 +NX_P29120 753 84152 5.66 0 Secretory vesicle Proprotein convertase 1 deficiency PE1 5 +NX_P29122 969 106420 7.96 0 Endomembrane system;Endoplasmic reticulum;Secreted NA PE1 15 +NX_P29144 1249 138350 5.9 0 Cytosol;Cytoplasm;Nucleus NA PE1 13 +NX_P29218 277 30189 5.16 0 Nucleoplasm;Cytoplasm;Mitochondrion Mental retardation, autosomal recessive 59 PE1 8 +NX_P29274 412 44707 8.34 7 Cell membrane NA PE1 22 +NX_P29275 332 36333 8.62 7 Cytosol;Cell membrane NA PE1 17 +NX_P29279 349 38091 8.43 0 Secreted;Extracellular matrix NA PE1 6 +NX_P29317 976 108266 5.86 1 Nucleus speckle;Golgi apparatus;Cell membrane;Focal adhesion;Lamellipodium membrane;Ruffle membrane;Cell junction Cataract 6, multiple types PE1 1 +NX_P29320 983 110131 6.33 1 Cytosol;Nucleoplasm;Cell membrane;Golgi apparatus;Secreted Colorectal cancer PE1 3 +NX_P29322 1005 111003 8.42 1 Early endosome membrane;Cell projection;Cell membrane NA PE1 1 +NX_P29323 1055 117493 6.14 1 Axon;Dendrite;Nucleus;Cell membrane Prostate cancer PE1 1 +NX_P29350 595 67561 7.65 0 Cytoplasm;Nucleolus;Nucleus NA PE1 12 +NX_P29353 583 62822 6.01 0 Mitochondrion;Cytoplasm;Mitochondrion matrix;Cytosol NA PE1 1 +NX_P29371 465 52202 9.42 7 Cell membrane Hypogonadotropic hypogonadism 11 with or without anosmia PE1 4 +NX_P29372 298 32869 9.65 0 Cytosol;Nucleoplasm;Mitochondrion nucleoid;Nucleus;Cytoplasm NA PE1 16 +NX_P29373 138 15693 5.42 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Endoplasmic reticulum NA PE1 1 +NX_P29374 1257 142752 5.02 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA PE1 14 +NX_P29375 1690 192095 6.12 0 Cytosol;Nucleolus;Nucleus NA PE1 12 +NX_P29376 864 91681 6.07 1 Cytoplasmic vesicle;Membrane NA PE1 15 +NX_P29377 79 9016 4.69 0 NA NA PE1 X +NX_P29400 1685 161044 7.71 0 Lipid droplet;Basement membrane Alport syndrome, X-linked PE1 X +NX_P29401 623 67878 7.58 0 Nucleoplasm Short stature, developmental delay, and congenital heart defects PE1 3 +NX_P29459 219 24874 6.21 0 Secreted NA PE1 3 +NX_P29460 328 37169 5.52 0 Secreted Psoriasis 11;Immunodeficiency 29 PE1 5 +NX_P29466 404 45159 5.63 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 11 +NX_P29474 1203 133275 6.94 0 Caveola;Cytoskeleton;Golgi apparatus;Cell membrane NA PE1 7 +NX_P29475 1434 160970 7.1 0 Nucleoplasm;Dendritic spine;Cell membrane;Sarcolemma NA PE1 12 +NX_P29508 390 44565 6.35 0 Cytosol;Cytoplasm;Cell membrane NA PE1 18 +NX_P29536 600 67030 9.35 0 Sarcomere;Cytosol;Cytoskeleton NA PE1 1 +NX_P29558 406 44505 8.91 0 Cytosol;Nucleus NA PE1 2 +NX_P29590 882 97551 5.88 0 Endoplasmic reticulum membrane;PML body;Nucleolus;Nucleoplasm;Cytoplasm;Early endosome membrane;Nucleus NA PE1 15 +NX_P29597 1187 133650 6.71 0 Cytosol Immunodeficiency 35 PE1 19 +NX_P29622 427 48542 7.34 0 Secreted NA PE1 14 +NX_P29692 281 31122 4.9 0 Nucleolus;Nucleus NA PE1 8 +NX_P29728 719 82431 8.55 0 Nucleoplasm;Cytoplasm;Perinuclear region;Cytosol NA PE1 12 +NX_P29762 137 15566 5.3 0 Cytoplasm NA PE1 15 +NX_P29803 388 42933 8.76 0 Mitochondrion matrix NA PE1 4 +NX_P29965 261 29274 8.53 1 Cell surface;Cell membrane;Secreted Immunodeficiency with hyper-IgM, type 1 PE1 X +NX_P29966 332 31555 4.47 0 Cytosol;Endoplasmic reticulum;Nucleus;Cell membrane;Membrane;Cytoskeleton NA PE1 6 +NX_P29972 269 28526 6.95 6 Cell membrane NA PE1 7 +NX_P29973 690 79586 7.85 6 Membrane Retinitis pigmentosa 49 PE1 4 +NX_P29992 359 42123 5.51 0 Cytoplasm;Cell membrane Hypocalcemia, autosomal dominant 2;Hypocalciuric hypercalcemia, familial 2 PE1 19 +NX_P30038 563 61719 8.25 0 Mitochondrion matrix Hyperprolinemia 2 PE1 1 +NX_P30039 288 31785 6.06 0 Cytoplasmic vesicle NA PE1 10 +NX_P30040 261 28993 6.77 0 Nucleoplasm;Cytoskeleton;Endoplasmic reticulum lumen;Melanosome;Endoplasmic reticulum NA PE1 12 +NX_P30041 224 25035 6 0 Cytosol;Cytoplasm;Cell membrane;Lysosome NA PE1 1 +NX_P30043 206 22119 7.13 0 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm NA PE1 19 +NX_P30044 214 22086 8.93 0 Mitochondrion;Cytoplasm;Cytosol;Peroxisome matrix NA PE1 11 +NX_P30046 118 12712 6.72 0 Mitochondrion;Cytoplasm NA PE1 22 +NX_P30047 84 9698 6.08 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Nucleus membrane NA PE1 15 +NX_P30048 256 27693 7.68 0 Mitochondrion;Cytoplasm;Early endosome NA PE1 10 +NX_P30049 168 17490 5.38 0 Mitochondrion;Mitochondrion inner membrane NA PE1 19 +NX_P30050 165 17819 9.48 0 Golgi apparatus NA PE1 9 +NX_P30084 290 31387 8.34 0 Mitochondrion;Mitochondrion matrix Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency PE1 10 +NX_P30085 196 22222 5.44 0 Cytoplasm;Nucleus NA PE1 1 +NX_P30086 187 21057 7.01 0 Cytoplasm;Cell membrane NA PE1 12 +NX_P30101 505 56782 5.98 0 Endoplasmic reticulum lumen;Melanosome;Endoplasmic reticulum NA PE1 15 +NX_P30153 589 65309 5 0 Cytoplasm;Dendrite;Centromere;Cytosol;Lateral cell membrane Mental retardation, autosomal dominant 36 PE1 19 +NX_P30154 601 66214 4.84 0 Cytosol;Nucleus;Centrosome;Cell membrane NA PE1 11 +NX_P30203 668 71801 4.82 1 Cell membrane;Secreted NA PE1 11 +NX_P30260 824 91867 6.59 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 17 +NX_P30273 86 9667 6.54 1 Cell membrane NA PE1 1 +NX_P30279 289 33067 5.06 0 Nucleoplasm;Cytoplasm;Nucleus;Membrane Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 PE1 12 +NX_P30281 292 32520 6.66 0 Cytoplasm;Nucleus;Membrane NA PE1 6 +NX_P30291 646 71597 6.33 0 Nucleolus;Nucleus NA PE1 11 +NX_P30301 263 28122 8.62 6 Gap junction;Cell membrane Cataract 15, multiple types PE1 12 +NX_P30304 524 59087 6.49 0 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA PE1 3 +NX_P30305 580 64987 6 0 Cytoplasmic vesicle;Spindle;Centrosome;Spindle pole NA PE1 20 +NX_P30307 473 53365 6.34 0 Nucleus speckle;Nucleus NA PE1 5 +NX_P30405 207 22040 9.49 0 Mitochondrion matrix;Mitochondrion NA PE1 10 +NX_P30408 202 21632 4.88 4 Cell membrane;Membrane NA PE1 3 +NX_P30411 391 44461 8.5 7 Cell membrane NA PE1 14 +NX_P30414 1462 165677 10.01 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 3 +NX_P30419 496 56806 7.65 0 Cytosol;Cytoplasm;Cell membrane;Membrane NA PE1 17 +NX_P30443 365 40846 6.09 1 Membrane NA PE1 6 +NX_P30447 365 40733 5.91 1 Membrane NA PE1 6 +NX_P30450 365 41062 6.08 1 Membrane NA PE1 6 +NX_P30453 365 41055 5.89 1 Membrane NA PE1 6 +NX_P30455 365 40934 5.96 1 Membrane NA PE1 6 +NX_P30456 365 41033 5.96 1 Membrane NA PE1 6 +NX_P30457 365 41082 5.89 1 Membrane NA PE1 6 +NX_P30459 365 40891 6.02 1 Membrane NA PE1 6 +NX_P30460 362 40331 5.46 1 Membrane NA PE1 6 +NX_P30461 362 40474 5.77 1 Membrane NA PE1 6 +NX_P30462 362 40358 5.56 1 Membrane NA PE1 6 +NX_P30464 362 40388 5.9 1 Membrane Stevens-Johnson syndrome PE1 6 +NX_P30466 362 40275 6.27 1 Membrane NA PE1 6 +NX_P30475 362 40328 5.77 1 Membrane NA PE1 6 +NX_P30479 362 40539 6.09 1 Membrane NA PE1 6 +NX_P30480 362 40333 5.56 1 Membrane NA PE1 6 +NX_P30481 362 40481 5.7 1 Membrane NA PE1 6 +NX_P30483 362 40414 6.03 1 Membrane NA PE1 6 +NX_P30484 362 40440 6.17 1 Membrane NA PE1 6 +NX_P30485 362 40571 5.78 1 Membrane NA PE1 6 +NX_P30486 362 40362 5.67 1 Membrane NA PE1 6 +NX_P30487 362 40581 6.03 1 Membrane NA PE1 6 +NX_P30488 362 40541 6.03 1 Membrane NA PE1 6 +NX_P30490 362 40521 5.85 1 Membrane NA PE1 6 +NX_P30491 362 40495 6.02 1 Membrane NA PE1 6 +NX_P30492 362 40380 5.89 1 Membrane NA PE1 6 +NX_P30493 362 40496 5.66 1 Membrane NA PE1 6 +NX_P30495 362 40478 5.77 1 Membrane NA PE1 6 +NX_P30498 362 40478 5.84 1 Membrane NA PE1 6 +NX_P30499 366 40965 5.49 1 Membrane NA PE1 6 +NX_P30501 366 41095 5.76 1 Membrane NA PE1 6 +NX_P30504 366 40995 6.04 1 Membrane NA PE1 6 +NX_P30505 366 40773 6.52 1 Membrane NA PE1 6 +NX_P30508 366 40886 5.91 1 Membrane NA PE1 6 +NX_P30510 366 40838 5.79 1 Membrane NA PE1 6 +NX_P30511 346 39062 5.37 1 Membrane NA PE1 6 +NX_P30512 365 40863 6.52 1 Membrane NA PE1 6 +NX_P30518 371 40279 9.49 7 Cell membrane Nephrogenic syndrome of inappropriate antidiuresis;Diabetes insipidus, nephrogenic, X-linked PE1 X +NX_P30519 316 36033 5.31 0 Cytoplasmic vesicle;Cytosol;Microsome;Endoplasmic reticulum NA PE1 16 +NX_P30520 456 50097 6.13 0 Cytosol;Cytoplasm;Cell membrane NA PE1 1 +NX_P30530 894 98337 5.23 1 Cell membrane NA PE1 19 +NX_P30531 599 67074 8.39 12 Mitochondrion;Cell membrane;Membrane Myoclonic-atonic epilepsy PE1 3 +NX_P30532 468 53054 6.52 4 Focal adhesion;Postsynaptic cell membrane;Cell membrane NA PE1 15 +NX_P30533 357 41466 8.73 0 Endosome lumen;cis-Golgi network;Endoplasmic reticulum;Golgi apparatus lumen;Cell surface;Rough endoplasmic reticulum lumen;Endoplasmic reticulum-Golgi intermediate compartment lumen Myopia 23, autosomal recessive PE1 4 +NX_P30536 169 18828 9.43 5 Cytoplasmic vesicle;Cytosol;Mitochondrion;Mitochondrion membrane NA PE1 22 +NX_P30542 326 36512 8.9 7 Cell membrane NA PE1 1 +NX_P30550 384 43199 8.78 7 Cell membrane NA PE1 X +NX_P30556 359 41061 9.44 7 Cytoplasmic vesicle;Cell membrane Renal tubular dysgenesis PE1 3 +NX_P30559 389 42772 9.63 7 Cell membrane NA PE1 3 +NX_P30566 484 54889 6.68 0 Cytosol Adenylosuccinase deficiency PE1 22 +NX_P30613 574 61830 7.65 0 Golgi apparatus;Endoplasmic reticulum Pyruvate kinase hyperactivity;Pyruvate kinase deficiency of red cells PE1 1 +NX_P30622 1438 162246 5.29 0 Cytosol;Cytoplasm;Cytoskeleton;Ruffle;Cytoplasmic vesicle membrane NA PE1 12 +NX_P30626 198 21676 5.32 0 Nucleoplasm;Cytoplasm;Cytosol;Sarcoplasmic reticulum membrane NA PE1 7 +NX_P30679 374 43568 8.74 0 NA NA PE1 19 +NX_P30685 362 40455 6.02 1 Membrane NA PE1 6 +NX_P30711 240 27335 7.01 0 Cytoplasm NA PE1 22 +NX_P30740 379 42742 5.9 0 Cytosol;Cytoplasm;Cytoplasmic granule NA PE1 6 +NX_P30793 250 27903 8.73 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Nucleus membrane Dystonia, dopa-responsive;Hyperphenylalaninemia, BH4-deficient, B PE1 14 +NX_P30825 629 67638 5.29 14 Cell membrane NA PE1 13 +NX_P30837 517 57206 6.36 0 Nucleoplasm;Cytoplasmic vesicle;Mitochondrion;Mitochondrion matrix NA PE1 9 +NX_P30838 453 50395 6.11 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Cell membrane NA PE1 17 +NX_P30872 391 42686 8.68 7 Cell membrane NA PE1 14 +NX_P30874 369 41333 9.15 7 Cytosol;Cytoplasm;Cell membrane NA PE1 17 +NX_P30876 1174 133897 6.44 0 Nucleoplasm;Nucleus NA PE1 4 +NX_P30926 498 56380 8.64 4 Postsynaptic cell membrane;Cell membrane NA PE1 15 +NX_P30939 366 41709 9.09 7 Cell membrane NA PE2 3 +NX_P30953 314 35264 7.98 7 Cell membrane NA PE3 17 +NX_P30954 320 35925 9.29 7 Cell membrane NA PE2 1 +NX_P30968 328 37731 9.56 7 Cell membrane Hypogonadotropic hypogonadism 7 with or without anosmia PE1 4 +NX_P30988 508 59352 8.98 7 Cell membrane NA PE1 7 +NX_P30989 418 46259 9.46 7 Membrane raft;Cell membrane NA PE1 20 +NX_P30990 170 19795 6.59 0 Secretory vesicle;Secreted NA PE1 12 +NX_P31025 176 19250 5.39 0 Secreted NA PE1 9 +NX_P31040 664 72692 7.06 0 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex II deficiency;Cardiomyopathy, dilated 1GG;Leigh syndrome;Paragangliomas 5 PE1 5 +NX_P31146 461 51026 6.25 0 Cytosol;Phagosome membrane;Cytoskeleton;Cell cortex Immunodeficiency 8 PE1 16 +NX_P31150 447 50583 5 0 Cytoplasmic vesicle;Cytoplasm;trans-Golgi network Mental retardation, X-linked 41 PE1 X +NX_P31151 101 11471 6.27 0 Cytoplasm;Secreted NA PE1 1 +NX_P31152 587 65922 5.25 0 Cytoplasm;Nucleus NA PE1 18 +NX_P31153 395 43661 6.02 0 Cytosol;Nucleoplasm NA PE1 2 +NX_P31213 254 28393 9.47 4 Endoplasmic reticulum membrane;Microsome membrane Pseudovaginal perineoscrotal hypospadias PE1 2 +NX_P31249 432 45730 8.98 0 Nucleoplasm;Nucleus NA PE1 2 +NX_P31260 410 42414 8.63 0 Nucleoplasm;Nucleus NA PE1 7 +NX_P31267 233 26339 9.18 0 Nucleus NA PE2 7 +NX_P31268 230 25355 5.26 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE1 7 +NX_P31269 272 30172 8.8 0 Nucleus NA PE1 7 +NX_P31270 313 34486 8.91 0 Nucleoplasm;Nucleus Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 PE1 7 +NX_P31271 388 39727 9.24 0 Nucleus Hand-foot-genital syndrome;Guttmacher syndrome PE1 7 +NX_P31273 242 27755 6.56 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 12 +NX_P31274 260 29248 9.14 0 Nucleoplasm;Nucleus NA PE1 12 +NX_P31275 282 30171 8.93 0 Nucleus NA PE1 12 +NX_P31276 330 35379 9.11 0 Nucleus Ectodermal dysplasia 9, hair/nail type PE1 12 +NX_P31277 338 35197 9.02 0 Nucleoplasm;Nucleus NA PE1 2 +NX_P31314 330 34365 9.53 0 Nucleus NA PE1 10 +NX_P31321 381 43073 5.53 0 Cell membrane NA PE1 7 +NX_P31323 418 46302 4.82 0 Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Mitochondrion;Centrosome NA PE1 7 +NX_P31327 1500 164939 6.3 0 Mitochondrion;Nucleolus Pulmonary hypertension, neonatal;Carbamoyl phosphate synthetase 1 deficiency PE1 2 +NX_P31350 389 44878 5.28 0 Cytosol;Cytoplasm NA PE1 2 +NX_P31358 61 6614 8 0 Cell membrane NA PE1 1 +NX_P31371 208 23441 7.06 0 Secreted Multiple synostoses syndrome 3 PE1 13 +NX_P31391 388 42003 9.09 7 Cell membrane NA PE2 20 +NX_P31415 396 45160 4.03 0 Sarcoplasmic reticulum membrane;Nucleoplasm;Sarcoplasmic reticulum lumen;Endoplasmic reticulum;Mitochondrion matrix;Sarcoplasmic reticulum;Mitochondrion Myopathy, vacuolar, with CASQ1 aggregates;Myopathy, tubular aggregate, 1 PE1 1 +NX_P31431 198 21642 4.39 1 Membrane;Golgi apparatus;Cell membrane;Secreted NA PE1 20 +NX_P31483 386 42963 7.62 0 Nucleoplasm;Stress granule;Nucleus;Cytosol Welander distal myopathy PE1 2 +NX_P31512 558 63343 8.74 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 1 +NX_P31513 532 60033 7.9 1 Endoplasmic reticulum membrane;Microsome membrane Trimethylaminuria PE1 1 +NX_P31629 2446 269053 6.5 0 Nucleoplasm;Nucleus Mental retardation, autosomal dominant 43 PE1 6 +NX_P31639 672 72897 7.45 11 Membrane Renal glucosuria PE1 16 +NX_P31641 620 69830 7.37 12 Cytosol;Cell junction;Cell membrane NA PE1 3 +NX_P31644 462 52146 9.22 4 Postsynaptic cell membrane;Cell membrane NA PE1 15 +NX_P31645 630 70325 5.89 12 Endosome membrane;Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Endomembrane system NA PE1 17 +NX_P31689 397 44868 6.65 0 Cytosol;Cytoplasm;Microsome;Cell membrane;Perinuclear region;Nucleus;Membrane;Mitochondrion;Cytoskeleton NA PE1 9 +NX_P31749 480 55686 5.75 0 Cytoplasm;Cytoskeleton;Nucleus;Cell membrane Proteus syndrome;Breast cancer;Cowden syndrome 6;Colorectal cancer PE1 14 +NX_P31751 481 55769 5.98 0 Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Early endosome Diabetes mellitus, non-insulin-dependent;Hypoinsulinemic hypoglycemia with hemihypertrophy PE1 19 +NX_P31785 369 42287 5.9 1 Cytoplasmic vesicle;Membrane Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative;X-linked combined immunodeficiency PE1 X +NX_P31930 480 52646 5.94 0 Mitochondrion;Cytosol;Mitochondrion inner membrane NA PE1 3 +NX_P31937 336 35329 8.38 0 Mitochondrion NA PE1 7 +NX_P31939 592 64616 6.27 0 Cytosol;Cell membrane AICAR transformylase/IMP cyclohydrolase deficiency PE1 2 +NX_P31941 199 23012 6.34 0 Cytoplasm;Nucleus NA PE1 22 +NX_P31942 346 36926 6.37 0 Nucleoplasm;Nucleus NA PE1 10 +NX_P31943 449 49229 5.89 0 Nucleoplasm NA PE1 5 +NX_P31944 242 27680 5.44 0 Mitochondrion;Cytoplasm;Nucleus;Cytosol Ichthyosis, congenital, autosomal recessive 12 PE1 19 +NX_P31946 246 28082 4.76 0 Cytosol;Cytoplasm;Melanosome NA PE1 20 +NX_P31947 248 27774 4.68 0 Cytosol;Cytoplasm;Nucleus;Secreted NA PE1 1 +NX_P31948 543 62639 6.4 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Cell membrane NA PE1 11 +NX_P31949 105 11740 6.56 0 Cytoplasm;Nucleus NA PE1 1 +NX_P31994 310 34044 5.74 1 Cell membrane Systemic lupus erythematosus PE1 1 +NX_P31995 323 35578 6.4 1 Cytoplasm;Cell membrane NA PE1 1 +NX_P31997 349 38154 6.95 0 Cell surface;Cell membrane NA PE1 19 +NX_P32004 1257 140003 5.84 1 Axon;Dendrite;Growth cone;Cell membrane;Nucleoplasm Agenesis of the corpus callosum, X-linked, partial;Hydrocephalus due to stenosis of the aqueduct of Sylvius;Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome PE1 X +NX_P32019 993 112852 5.37 0 Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus;Cytosol;Early endosome membrane;Membrane;Phagosome membrane NA PE1 1 +NX_P32119 198 21892 5.66 0 Cytoplasm NA PE1 19 +NX_P32121 409 46106 7.59 0 Cytoplasmic vesicle;Nucleus;Clathrin-coated pit;Cell membrane;Cytoplasm NA PE1 17 +NX_P32189 559 61245 6.12 0 Cytoplasm;Mitochondrion outer membrane Glycerol kinase deficiency PE1 X +NX_P32238 428 47841 9.37 7 Cell membrane NA PE1 4 +NX_P32239 447 48419 10.03 7 Cell membrane NA PE1 11 +NX_P32241 457 51547 8.52 7 Cell membrane NA PE1 3 +NX_P32242 354 37327 9.41 0 Cytosol;Nucleus speckle;Nucleus NA PE1 2 +NX_P32243 289 31636 9.4 0 Nucleus Retinal dystrophy, early-onset, with or without pituitary dysfunction;Pituitary hormone deficiency, combined, 6;Microphthalmia, syndromic, 5 PE1 14 +NX_P32245 332 36943 7.88 7 Cell membrane Obesity PE1 18 +NX_P32246 355 41173 8.38 7 Cell membrane NA PE1 3 +NX_P32247 399 44411 8.99 7 Cell membrane NA PE1 X +NX_P32248 378 42874 8.82 7 Mitochondrion;Cell membrane NA PE1 17 +NX_P32249 361 41224 9.31 7 Cytoplasmic vesicle;Nucleus membrane;Cell membrane NA PE1 13 +NX_P32297 505 57480 6.05 4 Postsynaptic cell membrane;Cell membrane NA PE1 15 +NX_P32298 578 66583 7.93 0 Cytoplasmic vesicle;Cytoplasm;Cell cortex NA PE1 4 +NX_P32302 372 41955 8.52 7 Cell membrane NA PE1 11 +NX_P32314 431 47161 5.98 0 Cytoplasmic vesicle;Nucleus NA PE1 2 +NX_P32320 146 16185 6.55 0 Nucleoplasm NA PE1 1 +NX_P32321 178 20016 7.5 0 Nucleoplasm;Cytosol NA PE1 4 +NX_P32322 319 33361 7.18 0 Mitochondrion Cutis laxa, autosomal recessive, 2B;Cutis laxa, autosomal recessive, 3B PE1 17 +NX_P32418 973 108547 4.91 10 Nucleoplasm;Cell membrane NA PE1 2 +NX_P32455 592 67931 5.97 0 Cytoplasm;Golgi apparatus membrane;Cell membrane;Secreted NA PE1 1 +NX_P32456 591 67209 5.54 0 Cytosol;Cytoplasm;Nucleoplasm;Perinuclear region;Golgi apparatus membrane;Membrane;Cytoskeleton NA PE1 1 +NX_P32519 619 67498 5.09 0 Nucleoplasm;Nucleus NA PE1 13 +NX_P32745 418 45847 8.91 7 Cell membrane NA PE1 22 +NX_P32754 393 44934 6.52 0 Nucleus speckle Hawkinsinuria;Tyrosinemia 3 PE1 12 +NX_P32780 548 62032 8.8 0 Nucleoplasm;Nucleus NA PE1 11 +NX_P32856 288 33341 5.92 1 Cytosol;Nucleus;Membrane NA PE1 12 +NX_P32881 189 21989 5.32 0 Secreted NA PE1 9 +NX_P32926 999 107533 4.86 1 Desmosome;Cell membrane NA PE1 18 +NX_P32927 897 97336 5.33 1 Golgi apparatus;Membrane Pulmonary surfactant metabolism dysfunction 5 PE1 22 +NX_P32929 405 44508 6.21 0 Cytoplasm Cystathioninuria PE1 1 +NX_P32942 547 59541 5.31 1 Mitochondrion;Nucleus;Nucleus membrane;Membrane NA PE1 19 +NX_P32969 192 21863 9.96 0 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum NA PE1 X +NX_P32970 193 21118 8.93 1 Nucleoplasm;Membrane NA PE1 19 +NX_P32971 234 26017 7.62 1 Membrane NA PE1 9 +NX_P33032 325 36601 8.75 7 Cell membrane NA PE1 18 +NX_P33076 1130 123514 5.3 0 Nucleoplasm;PML body;Nucleus Bare lymphocyte syndrome 2 PE1 16 +NX_P33121 698 77943 6.81 1 Endoplasmic reticulum membrane;Microsome membrane;Peroxisome membrane;Mitochondrion outer membrane;Nucleus;Mitochondrion NA PE1 4 +NX_P33151 784 87528 5.22 1 Cell junction;Cell membrane NA PE1 16 +NX_P33176 963 109685 6.12 0 Cytosol;Cytoskeleton;Microtubule organizing center NA PE1 10 +NX_P33240 577 60959 6.36 0 Nucleoplasm;Nucleus NA PE1 X +NX_P33241 339 37192 4.69 0 Cell membrane NA PE1 11 +NX_P33260 490 55711 6.83 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 10 +NX_P33261 490 55931 7.11 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 10 +NX_P33316 252 26563 9.46 0 Mitochondrion;Nucleoplasm;Nucleus NA PE1 15 +NX_P33402 732 81750 7.77 0 Cytoplasm NA PE1 11 +NX_P33527 1531 171591 6.71 17 Cell membrane NA PE1 16 +NX_P33552 79 9860 8.07 0 Cytoplasm NA PE1 9 +NX_P33681 288 33048 7.58 1 Membrane NA PE1 3 +NX_P33763 92 10744 5.01 0 Nucleoplasm NA PE1 1 +NX_P33764 101 11713 4.71 0 Cytosol;Cytoplasm;Nucleolus NA PE1 1 +NX_P33778 126 13950 10.31 0 Nucleus;Chromosome NA PE1 6 +NX_P33897 745 82937 9.09 5 Endoplasmic reticulum membrane;Lysosome membrane;Peroxisome membrane;Mitochondrion membrane Adrenoleukodystrophy PE1 X +NX_P33908 653 72969 6.04 1 Golgi apparatus membrane;Golgi apparatus NA PE1 6 +NX_P33947 212 24422 8.86 7 Endoplasmic reticulum membrane NA PE1 7 +NX_P33981 857 97072 8.41 0 Cytosol;Nucleolus NA PE1 6 +NX_P33991 863 96558 6.28 0 Nucleoplasm;Nucleus Immunodeficiency 54 PE1 8 +NX_P33992 734 82286 8.64 0 Nucleoplasm;Cytosol;Nucleus Meier-Gorlin syndrome 8 PE1 22 +NX_P33993 719 81308 6.08 0 Nucleoplasm;Nucleus NA PE1 7 +NX_P34059 522 58026 6.25 0 Cytosol;Lysosome Mucopolysaccharidosis 4A PE1 16 +NX_P34096 147 16840 9.3 0 Secreted NA PE1 14 +NX_P34130 210 22427 9.01 0 Golgi apparatus;Secreted Glaucoma 1, open angle, O PE1 19 +NX_P34741 201 22160 4.75 1 Cytosol;Cell membrane;Membrane NA PE1 8 +NX_P34810 354 37408 9.1 1 Cytoplasmic vesicle;Endosome membrane;Lysosome membrane;Cell membrane;Golgi apparatus NA PE1 17 +NX_P34820 402 44768 8.76 0 Secreted NA PE1 1 +NX_P34896 483 53083 7.61 0 Cytosol;Cytoplasm;Nucleus NA PE1 17 +NX_P34897 504 55993 8.76 0 Mitochondrion nucleoid;Cytoplasm;Nucleus;Mitochondrion;Mitochondrion inner membrane;Cytoskeleton NA PE1 12 +NX_P34903 492 55165 8.81 4 Postsynaptic cell membrane;Cell membrane NA PE1 X +NX_P34910 448 48666 4.67 1 Membrane NA PE1 17 +NX_P34913 555 62616 5.91 0 Cytosol;Cytoplasm;Peroxisome NA PE1 8 +NX_P34925 607 67815 6.92 1 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Membrane NA PE1 3 +NX_P34931 641 70375 5.76 0 NA NA PE1 6 +NX_P34932 840 94331 5.11 0 Cytosol;Nucleoplasm;Cytoplasm NA PE1 5 +NX_P34947 590 67787 8.39 0 Cytoplasm;Nucleus;Cell membrane;Nucleus membrane;Nucleus speckle NA PE1 10 +NX_P34949 423 46656 5.62 0 Cytosol;Cytoplasm;Cell membrane Congenital disorder of glycosylation 1B PE1 15 +NX_P34969 479 53555 9.09 7 Cytosol;Nucleus speckle;Cell membrane NA PE1 10 +NX_P34972 360 39681 8.52 7 Dendrite;Perikaryon;Cell membrane NA PE1 1 +NX_P34981 398 45085 8.62 7 Cell membrane NA PE1 8 +NX_P34982 312 35240 9.07 7 Cell membrane NA PE1 17 +NX_P34995 402 41801 11.72 7 Cell membrane NA PE2 19 +NX_P34998 444 50719 9.47 7 Endosome;Cell membrane NA PE1 17 +NX_P35030 304 32529 7.46 0 Secreted NA PE1 9 +NX_P35052 558 61680 7.07 0 Cytosol;Extracellular space;Endosome;Cell membrane NA PE1 2 +NX_P35070 178 19746 8.53 1 Extracellular space;Cell membrane NA PE1 4 +NX_P35080 140 15046 6.55 0 Cytoskeleton NA PE1 3 +NX_P35125 1406 158658 7.87 0 Cytoplasm;Endosome;Cell membrane NA PE1 17 +NX_P35212 333 37414 7.5 4 Gap junction;Cell membrane NA PE1 1 +NX_P35218 305 34750 7.18 0 Mitochondrion Hyperammonemia due to carbonic anhydrase VA deficiency PE1 16 +NX_P35219 290 32973 4.78 0 NA Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 PE1 8 +NX_P35221 906 100071 5.95 0 Adherens junction;Cytoskeleton;Cell junction;Cell membrane Macular dystrophy, patterned, 2 PE1 5 +NX_P35222 781 85497 5.53 0 Synapse;Cytoplasm;Cell junction;Cell membrane;Centrosome;Nucleus;Adherens junction;Cytoskeleton;Spindle pole;Cilium basal body Colorectal cancer;Ovarian cancer;Mesothelioma, malignant;Vitreoretinopathy, exudative 7;Pilomatrixoma;Mental retardation, autosomal dominant 19;Medulloblastoma PE1 3 +NX_P35225 146 15816 8.69 0 Cytosol;Cell membrane;Secreted Allergic rhinitis PE1 5 +NX_P35226 326 36949 8.9 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 10 +NX_P35227 344 37788 8.21 0 Nucleus NA PE1 17 +NX_P35228 1153 131117 8.2 0 Cytosol NA PE1 17 +NX_P35232 272 29804 5.57 0 Mitochondrion;Cytoplasmic vesicle;Mitochondrion inner membrane NA PE1 17 +NX_P35236 360 40529 6.33 0 Cytoplasm;Cytoskeleton NA PE1 1 +NX_P35237 376 42622 5.18 0 Cytoplasm;Centrosome Deafness, autosomal recessive, 91 PE1 6 +NX_P35240 595 69690 6.11 0 Cytosol;Cell membrane;Cytoplasmic granule;Perinuclear region;Nucleus;Ruffle membrane;Filopodium membrane;Cytoskeleton Schwannomatosis 1;Neurofibromatosis 2;Mesothelioma, malignant PE1 22 +NX_P35241 583 68564 6.03 0 Microvillus;Cytoplasm;Cytoskeleton;Cell membrane;Cleavage furrow Deafness, autosomal recessive, 24 PE1 11 +NX_P35243 200 23130 5.06 0 NA NA PE1 17 +NX_P35244 121 13569 4.96 0 Nucleus NA PE1 7 +NX_P35247 375 37728 6.25 0 Surface film;Extracellular matrix NA PE1 10 +NX_P35249 363 39682 8.26 0 Nucleoplasm;Nucleus NA PE1 3 +NX_P35250 354 39157 6.04 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 7 +NX_P35251 1148 128255 9.38 0 Nucleolus;Nucleus NA PE1 4 +NX_P35268 128 14787 9.21 0 Cytoplasm;Nucleolus NA PE1 1 +NX_P35269 517 58240 7.04 0 Nucleus;Cell junction NA PE1 19 +NX_P35270 261 28048 8.25 0 Cytosol;Cytoplasm;Nucleoplasm Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency PE1 2 +NX_P35318 185 20420 10.84 0 Secreted NA PE1 11 +NX_P35321 89 9877 8.85 0 Cytoplasm NA PE1 1 +NX_P35325 72 7975 8.81 0 Cytoplasm NA PE2 1 +NX_P35326 72 7965 8.81 0 Cytoplasm NA PE1 1 +NX_P35346 364 39202 9.58 7 Cell membrane NA PE1 16 +NX_P35348 466 51487 9.26 7 Caveola;Cytoplasm;Cell membrane;Nucleus membrane NA PE1 8 +NX_P35354 604 68996 7.02 0 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum NA PE1 1 +NX_P35367 487 55784 9.33 7 Cytosol;Cell membrane NA PE1 3 +NX_P35368 520 56836 9.53 7 Caveola;Cytoplasm;Nucleus membrane;Cell membrane NA PE1 5 +NX_P35372 400 44779 8.62 7 Endosome;Perikaryon;Cytoplasm;Cell membrane;Axon;Dendrite NA PE1 6 +NX_P35398 523 58975 6.3 0 Nucleus Intellectual developmental disorder with or without epilepsy or cerebellar ataxia PE1 15 +NX_P35408 488 53119 9.08 7 Cell membrane NA PE1 5 +NX_P35410 378 42411 8.71 7 Nucleoplasm;Cytosol;Cell membrane NA PE2 6 +NX_P35414 380 42660 7.46 7 Cell membrane NA PE1 11 +NX_P35442 1172 129991 4.62 0 Cytosol;Nucleus speckle;Cell membrane Intervertebral disc disease PE1 6 +NX_P35443 961 105869 4.44 0 Extracellular space;Secreted;Extracellular matrix;Endoplasmic reticulum;Cytoplasmic vesicle;Sarcoplasmic reticulum NA PE1 5 +NX_P35452 270 29031 9.82 0 Nucleus NA PE1 2 +NX_P35453 343 36101 9.5 0 Nucleus Syndactyly 5;Brachydactyly D;Brachydactyly-syndactyly-oligodactyly syndrome;Brachydactyly E1;Brachydactyly-syndactyly syndrome;Synpolydactyly 1;VACTERL association PE1 2 +NX_P35462 400 44225 9.2 7 Cell membrane Tremor, hereditary essential 1;Schizophrenia PE1 3 +NX_P35475 653 72670 9.25 0 Cytoplasmic vesicle;Lysosome Mucopolysaccharidosis 1S;Mucopolysaccharidosis 1H;Mucopolysaccharidosis 1H/S PE1 4 +NX_P35498 2009 228972 5.6 24 Nucleoplasm;Nucleus;Cell membrane Generalized epilepsy with febrile seizures plus 2;Epileptic encephalopathy, early infantile, 6;Intractable childhood epilepsy with generalized tonic-clonic seizures;Febrile seizures, familial, 3A;Migraine, familial hemiplegic, 3 PE1 2 +NX_P35499 1836 208061 4.99 24 Nucleoplasm;Cell membrane;Microtubule organizing center Paramyotonia congenita of von Eulenburg;Myotonia SCN4A-related;Periodic paralysis hypokalemic 2;Periodic paralysis hyperkalemic;Myasthenic syndrome, congenital, 16;Periodic paralysis normokalemic PE1 17 +NX_P35503 534 60338 8.41 1 Endoplasmic reticulum membrane;Microsome NA PE1 2 +NX_P35504 534 60071 8.24 1 Endoplasmic reticulum membrane;Microsome NA PE2 2 +NX_P35520 551 60587 6.2 0 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus Cystathionine beta-synthase deficiency PE1 21 +NX_P35523 988 108626 5.68 10 Cell membrane Myotonia congenita, autosomal recessive;Myotonia congenita, autosomal dominant PE1 7 +NX_P35527 623 62064 5.14 0 NA Keratoderma, palmoplantar, epidermolytic PE1 17 +NX_P35542 130 14747 9.17 0 Secreted NA PE1 11 +NX_P35544 74 7760 4.31 0 NA NA PE1 11 +NX_P35548 267 28897 9.68 0 Nucleus speckle;Nucleus Parietal foramina 1;Craniosynostosis 2;Parietal foramina with cleidocranial dysplasia PE1 5 +NX_P35555 2871 312237 4.81 0 Cytosol;Extracellular matrix;Secreted Acromicric dysplasia;Marfan syndrome;Ectopia lentis 1, isolated, autosomal dominant;Geleophysic dysplasia 2;Marfan lipodystrophy syndrome;Overlap connective tissue disease;Stiff skin syndrome;Weill-Marchesani syndrome 2 PE1 15 +NX_P35556 2912 314775 4.73 0 Cytosol;Nucleoplasm;Extracellular matrix Macular degeneration, early-onset;Arthrogryposis, distal, 9 PE1 5 +NX_P35557 465 52191 5.1 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus Familial hyperinsulinemic hypoglycemia 3;Diabetes mellitus, permanent neonatal;Maturity-onset diabetes of the young 2;Diabetes mellitus, non-insulin-dependent PE1 7 +NX_P35558 622 69195 5.8 0 Cytoplasm Phosphoenolpyruvate carboxykinase deficiency, cytosolic PE1 20 +NX_P35568 1242 131591 8.83 0 Nucleoplasm;Cytosol;Cell membrane Diabetes mellitus, non-insulin-dependent PE1 2 +NX_P35573 1532 174764 6.31 0 Nucleoplasm;Cytoplasm;Cytosol Glycogen storage disease 3 PE1 1 +NX_P35575 357 40484 8.72 9 Endoplasmic reticulum membrane Glycogen storage disease 1A PE1 17 +NX_P35579 1960 226532 5.5 0 Cytosol;Cytoskeleton;Cell cortex;Cell membrane Deafness, autosomal dominant, 17;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss PE1 22 +NX_P35580 1976 228999 5.44 0 Mitochondrion;Lamellipodium;Cytoskeleton;Cytosol NA PE1 17 +NX_P35590 1138 125090 6.63 1 Cell membrane NA PE1 1 +NX_P35606 906 102487 5.15 0 Cytosol;Cytoplasm;Golgi apparatus membrane;COPI-coated vesicle membrane;Golgi apparatus Microcephaly 19, primary, autosomal recessive PE1 3 +NX_P35609 894 103854 5.31 0 Z line Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction;Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction PE1 1 +NX_P35610 550 64735 9.08 5 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 1 +NX_P35611 737 80955 5.6 0 Nucleoplasm;Cytoskeleton;Cell membrane NA PE1 4 +NX_P35612 726 80854 5.67 0 Cytosol;Nucleoplasm;Cytoskeleton;Cell membrane NA PE1 2 +NX_P35613 385 42200 5.39 1 Cytoplasmic vesicle;Melanosome;Cell membrane NA PE1 19 +NX_P35625 211 24145 9 0 Extracellular matrix Sorsby fundus dystrophy PE1 22 +NX_P35626 688 79710 7.55 0 Nucleus;Cell membrane NA PE1 22 +NX_P35637 526 53426 9.4 0 Nucleoplasm;Nucleus Angiomatoid fibrous histiocytoma;Tremor, hereditary essential 4;Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia PE1 16 +NX_P35638 169 19175 4.61 0 Nucleoplasm;Cytoplasm;Nucleus Myxoid liposarcoma PE1 12 +NX_P35658 2090 213620 7.15 0 Cytoplasmic vesicle;Focal adhesion;Nucleus;Nuclear pore complex NA PE1 9 +NX_P35659 375 42674 8.69 0 Nucleus NA PE1 6 +NX_P35663 651 74242 9.68 0 Calyx NA PE1 X +NX_P35670 1465 157263 6.25 8 Late endosome;trans-Golgi network membrane;Golgi apparatus;Cytoplasm;Golgi apparatus membrane;Mitochondrion Wilson disease PE1 13 +NX_P35680 557 61324 7.39 0 Nucleoplasm;Nucleus Prostate cancer, hereditary, 11;Diabetes mellitus, non-insulin-dependent;Renal cysts and diabetes syndrome PE1 17 +NX_P35711 763 84026 6.15 0 Nucleoplasm;Nucleus Lamb-Shaffer syndrome PE1 12 +NX_P35712 828 91921 7.65 0 Nucleoplasm;Nucleus NA PE1 11 +NX_P35713 384 40891 8.16 0 Nucleus Hypotrichosis-lymphedema-telangiectasia syndrome;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome PE1 20 +NX_P35716 441 46679 4.91 0 Nucleus Mental retardation, autosomal dominant 27 PE1 2 +NX_P35749 1972 227339 5.42 0 Cytosol;Melanosome;Cell membrane Aortic aneurysm, familial thoracic 4 PE1 16 +NX_P35754 106 11776 8.33 0 Cytosol;Cytoplasm;Cell membrane NA PE1 5 +NX_P35789 620 70971 9.4 0 Nucleus NA PE1 19 +NX_P35790 457 52249 6.16 0 Cytoplasm;Endoplasmic reticulum NA PE1 11 +NX_P35813 382 42448 5.19 0 Cytosol;Nucleus;Cell membrane;Membrane NA PE1 14 +NX_P35858 605 66035 6.33 0 Nucleoplasm;Extracellular space Acid-labile subunit deficiency PE1 16 +NX_P35869 848 96147 5.94 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 7 +NX_P35900 424 48487 5.52 0 Cytosol;Cytoplasm NA PE1 17 +NX_P35908 639 65433 8.07 0 Cytosol;Cytoskeleton;Golgi apparatus Ichthyosis bullosa of Siemens PE1 12 +NX_P35913 854 98336 5.11 0 Cytosol;Membrane Retinitis pigmentosa 40;Night blindness, congenital stationary, autosomal dominant 2 PE1 4 +NX_P35914 325 34360 8.81 0 Mitochondrion matrix;Peroxisome 3-hydroxy-3-methylglutaryl-CoA lyase deficiency PE1 1 +NX_P35916 1363 152757 5.9 1 Nucleus speckle;Secreted;Cytoplasm;Cell membrane;Nucleus;Cell junction Lymphedema, hereditary, 1A;Hemangioma, capillary infantile PE1 5 +NX_P35968 1356 151527 5.6 1 Secreted;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Endoplasmic reticulum;Early endosome;Cell junction Hemangioma, capillary infantile PE1 4 +NX_P35998 433 48634 5.71 0 Cytosol;Cytoplasm NA PE1 7 +NX_P36021 539 59511 5.43 12 Cell membrane Monocarboxylate transporter 8 deficiency PE1 X +NX_P36222 383 42625 8.69 0 Extracellular space;Perinuclear region;Endoplasmic reticulum;Cytoplasm Schizophrenia;Asthma-related traits 7 PE1 1 +NX_P36268 569 61771 7.22 0 Perinuclear region;Endoplasmic reticulum NA PE1 22 +NX_P36269 586 62261 7.24 1 Nucleolus;Membrane NA PE1 22 +NX_P36382 358 40380 8.81 4 Gap junction;Cell membrane Atrial standstill 1;Atrial fibrillation, familial, 11 PE1 1 +NX_P36383 396 45470 6.9 4 Cytosol;Nucleolus;Gap junction;Cell junction;Cell membrane NA PE1 17 +NX_P36402 384 41642 6.32 0 Nucleoplasm;Nucleus NA PE1 5 +NX_P36404 184 20878 5.95 0 Nucleolus;Golgi apparatus;Cytosol;Cytoplasm;Focal adhesion;Nucleus;Mitochondrion intermembrane space;Centrosome NA PE1 11 +NX_P36405 182 20456 6.74 0 Cytoplasm;Cell membrane;Cilium;Nucleus;Golgi apparatus membrane;Spindle;Centrosome NA PE1 10 +NX_P36406 574 64067 5.93 0 Cytoplasm;Lysosome membrane;Golgi apparatus membrane;Endomembrane system NA PE1 5 +NX_P36507 400 44424 6.12 0 Cytosol;Cytoplasm;Membrane Cardiofaciocutaneous syndrome 4 PE1 19 +NX_P36508 570 61831 5.66 0 Cytosol;Nucleoplasm;Nucleus NA PE1 6 +NX_P36537 528 60774 9.12 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 4 +NX_P36542 298 32996 9.23 0 Cytoplasm;Mitochondrion inner membrane NA PE1 10 +NX_P36543 226 26145 7.7 0 Nucleoplasm Cutis laxa, autosomal recessive, 2C PE1 22 +NX_P36544 502 56449 6.02 4 Postsynaptic cell membrane;Cell membrane NA PE1 15 +NX_P36551 454 50152 8.59 0 Mitochondrion;Mitochondrion intermembrane space Hereditary coproporphyria PE1 3 +NX_P36575 388 42778 5.53 0 NA Myopia 26, X-linked, female-limited PE1 X +NX_P36578 427 47697 11.07 0 Cytosol;Nucleolus;Nucleus;Endoplasmic reticulum NA PE1 15 +NX_P36639 197 22520 5.15 0 Mitochondrion matrix;Cytosol;Nucleus NA PE1 7 +NX_P36776 959 106489 6.01 0 Mitochondrion;Mitochondrion matrix;Nucleus CODAS syndrome PE1 19 +NX_P36871 562 61449 6.3 0 Cytoplasm;Cytoskeleton Congenital disorder of glycosylation 1T PE1 1 +NX_P36873 323 36984 6.12 0 Kinetochore;Nucleus speckle;Nucleolus;Cleavage furrow;Nucleoplasm;Cytoplasm;Nucleus;Mitochondrion;Midbody NA PE1 12 +NX_P36888 993 112903 5.48 1 Endoplasmic reticulum lumen;Endoplasmic reticulum;Membrane Leukemia, acute myelogenous PE1 13 +NX_P36894 532 60198 7.71 1 Cytosol;Membrane Juvenile polyposis syndrome;Polyposis syndrome, mixed hereditary 2 PE1 10 +NX_P36896 505 56807 6.6 1 Cytosol;Cell membrane NA PE1 12 +NX_P36897 503 55960 7.51 1 Cytoplasmic vesicle;Cell surface;Cell membrane;Tight junction;Membrane raft Loeys-Dietz syndrome 1;Multiple self-healing squamous epithelioma PE1 9 +NX_P36915 607 68661 5.57 0 Cytoplasmic vesicle NA PE1 6 +NX_P36941 435 46709 5.53 1 Golgi apparatus;Membrane NA PE1 12 +NX_P36952 375 42100 5.72 0 Cytoplasmic vesicle;Extracellular space NA PE1 18 +NX_P36954 125 14523 5.04 0 Nucleoplasm;Nucleolus NA PE1 19 +NX_P36955 418 46312 5.97 0 Melanosome;Secreted Osteogenesis imperfecta 6 PE1 17 +NX_P36956 1147 121675 8.43 2 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Golgi apparatus;Cytosol;Golgi apparatus membrane;Nucleus NA PE1 17 +NX_P36957 453 48755 9.1 0 Mitochondrion matrix;Nucleus NA PE1 14 +NX_P36959 345 37419 6.6 0 NA NA PE1 6 +NX_P36969 197 22175 8.69 0 Nucleoplasm;Cytoplasm;Mitochondrion Spondylometaphyseal dysplasia, Sedaghatian type PE1 19 +NX_P36980 270 30651 6 0 Secreted NA PE1 1 +NX_P37023 503 56124 7.56 1 Cell membrane Telangiectasia, hereditary hemorrhagic, 2 PE1 12 +NX_P37058 310 34516 8.9 0 Cytoplasmic vesicle;Endoplasmic reticulum Male pseudohermaphrodism with gynecomastia PE1 9 +NX_P37059 387 42785 8.79 1 Endoplasmic reticulum;Membrane NA PE1 16 +NX_P37088 669 75704 7.47 2 Apical cell membrane;Flagellum;Acrosome;Cytoplasm;Cytoplasmic granule;Cilium Pseudohypoaldosteronism 1, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 2 PE1 12 +NX_P37108 136 14570 10.05 0 Cytoplasm;Nucleolus;Nucleus NA PE1 15 +NX_P37173 567 64568 5.6 1 Membrane raft;Cell membrane Loeys-Dietz syndrome 2;Hereditary non-polyposis colorectal cancer 6;Esophageal cancer PE1 3 +NX_P37198 522 53255 5.21 0 Nucleus membrane;Nuclear pore complex;Nucleus envelope;Centrosome;Nucleus;Spindle pole Infantile striatonigral degeneration PE1 19 +NX_P37231 505 57620 5.61 0 Cytoplasmic vesicle;Cytoplasm;Nucleus Lipodystrophy, familial partial, 3;Glioma 1;Obesity PE1 3 +NX_P37235 193 22313 5.21 0 Membrane NA PE1 2 +NX_P37268 417 48115 6.1 2 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 8 +NX_P37275 1124 124074 4.87 0 Nucleoplasm;Nucleus Corneal dystrophy, Fuchs endothelial, 6;Corneal dystrophy, posterior polymorphous, 3 PE1 10 +NX_P37287 484 54127 8.63 1 Endoplasmic reticulum membrane Multiple congenital anomalies-hypotonia-seizures syndrome 2;Paroxysmal nocturnal hemoglobinuria 1 PE1 X +NX_P37288 418 46800 9.48 7 Cell membrane NA PE1 12 +NX_P37802 199 22391 8.41 0 Cytosol;Cytoskeleton NA PE1 1 +NX_P37837 337 37540 6.36 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Transaldolase deficiency PE1 11 +NX_P37840 140 14460 4.67 0 Cytosol;Synapse;Secreted;Nucleus;Membrane Parkinson disease 1, autosomal dominant;Parkinson disease 4, autosomal dominant;Dementia Lewy body PE1 4 +NX_P38117 255 27844 8.25 0 Mitochondrion matrix;Cytoplasm;Mitochondrion Glutaric aciduria 2B PE1 19 +NX_P38159 391 42332 10.06 0 Nucleus Mental retardation, X-linked, syndromic, 11 PE1 X +NX_P38398 1863 207721 5.29 0 Cytoplasm;Nucleus;Chromosome Ovarian cancer;Breast-ovarian cancer, familial, 1;Fanconi anemia, complementation group S;Breast cancer;Pancreatic cancer 4 PE1 17 +NX_P38405 381 44308 6.23 0 Cytosol;Nucleus Dystonia 25 PE1 18 +NX_P38432 576 62608 9.2 0 Cajal body;Nucleolus;Nucleus NA PE1 17 +NX_P38435 758 87561 8.17 5 Endoplasmic reticulum membrane Combined deficiency of vitamin K-dependent clotting factors 1;Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency PE1 2 +NX_P38484 337 37806 5.27 1 Endoplasmic reticulum membrane;Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;Golgi apparatus membrane;Cytoplasmic vesicle membrane Immunodeficiency 28 PE1 21 +NX_P38567 509 57848 6.62 0 Cell membrane NA PE1 7 +NX_P38570 1179 130159 5.48 1 Membrane NA PE1 17 +NX_P38571 399 45419 6.42 0 Cytoplasmic vesicle;Lysosome Cholesteryl ester storage disease;Wolman disease PE1 10 +NX_P38606 617 68304 5.35 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol Epileptic encephalopathy, infantile or early childhood, 3;Cutis laxa, autosomal recessive, 2D PE1 3 +NX_P38646 679 73680 5.87 0 Mitochondrion;Nucleolus Anemia, sideroblastic, 4;Even-plus syndrome PE1 5 +NX_P38919 411 46871 6.3 0 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm Richieri-Costa-Pereira syndrome PE1 17 +NX_P38935 993 109149 9.13 0 Axon;Cytoplasm;Nucleus Neuronopathy, distal hereditary motor, 6;Charcot-Marie-Tooth disease 2S PE1 11 +NX_P38936 164 18119 8.69 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 6 +NX_P39019 145 16060 10.31 0 Nucleoplasm;Nucleus Diamond-Blackfan anemia 1 PE1 19 +NX_P39023 403 46109 10.19 0 Cytosol;Cytoplasm;Nucleolus NA PE1 22 +NX_P39059 1388 141720 4.9 0 Endoplasmic reticulum;Extracellular matrix NA PE1 9 +NX_P39060 1754 178188 5.67 0 Extracellular matrix;Basement membrane;Golgi apparatus;Secreted Knobloch syndrome 1 PE1 21 +NX_P39086 918 103981 6.65 3 Postsynaptic cell membrane;Cell membrane NA PE1 21 +NX_P39210 176 19733 9.54 4 Mitochondrion inner membrane Mitochondrial DNA depletion syndrome 6 PE1 2 +NX_P39656 456 50801 6.09 1 Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1R PE1 1 +NX_P39687 249 28585 3.99 0 Cytoplasm;Nucleus;Endoplasmic reticulum NA PE1 15 +NX_P39748 380 42593 8.8 0 Nucleoplasm;Mitochondrion;Nucleolus NA PE1 11 +NX_P39877 138 15674 8.79 0 Secreted Fleck retina, familial benign PE1 1 +NX_P39880 1505 164187 5.72 0 Nucleus NA PE1 7 +NX_P39900 470 54002 8.75 0 Extracellular matrix NA PE1 11 +NX_P39905 211 23720 9.26 0 Cytoplasmic vesicle;Nucleoplasm;Secreted Congenital central hypoventilation syndrome;Pheochromocytoma;Hirschsprung disease 3 PE1 5 +NX_P40121 348 38499 5.82 0 Cytoplasm;Nucleus;Melanosome;Secreted NA PE1 2 +NX_P40123 477 52824 5.95 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 6 +NX_P40126 519 59145 6.73 1 Melanosome;Melanosome membrane NA PE1 13 +NX_P40145 1251 140122 6.53 12 Synapse;Apical cell membrane;Basolateral cell membrane;Cell membrane;Axon;Dendrite;Coated pit;Clathrin-coated vesicle membrane;Presynaptic cell membrane;Caveola;Postsynaptic density;Membrane raft NA PE1 8 +NX_P40189 918 103537 5.62 1 Golgi apparatus;Cell membrane;Secreted NA PE1 5 +NX_P40197 560 60959 9.73 1 Membrane NA PE1 3 +NX_P40198 252 27091 6.15 1 Membrane NA PE1 19 +NX_P40199 344 37195 5.56 0 Cell surface;Apical cell membrane;Cell membrane NA PE1 19 +NX_P40200 585 65634 6.71 1 Membrane C syndrome PE1 3 +NX_P40205 109 11733 9.03 0 Cytoplasm;Nucleus NA PE1 2 +NX_P40222 546 61891 6.15 0 Cytosol;Cytoplasm;Centrosome;Nucleoplasm NA PE1 1 +NX_P40225 353 37823 9.54 0 Secreted Thrombocythemia 1 PE1 3 +NX_P40227 531 58024 6.24 0 Cytoplasm NA PE1 7 +NX_P40238 635 71245 6.03 1 Cell surface;Cell membrane;Golgi apparatus Myelofibrosis with myeloid metaplasia;Thrombocythemia 2;Congenital amegakaryocytic thrombocytopenia PE1 1 +NX_P40259 229 26048 5.67 1 Nucleoplasm;Cytosol;Cell membrane Agammaglobulinemia 6, autosomal recessive PE1 17 +NX_P40261 264 29574 5.56 0 Cytosol;Nucleoplasm;Golgi apparatus;Cytoplasm NA PE1 11 +NX_P40305 122 11542 11.07 3 Endoplasmic reticulum membrane;Endosome;Nucleus inner membrane;Mitochondrion membrane NA PE1 14 +NX_P40306 273 28936 7.69 0 Cytosol;Cytoplasm;Nucleus NA PE1 16 +NX_P40313 264 28002 8.56 0 Nucleoplasm NA PE1 16 +NX_P40337 213 24153 4.7 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Membrane von Hippel-Lindau disease;Pheochromocytoma;Renal cell carcinoma;Erythrocytosis, familial, 2 PE1 3 +NX_P40394 386 41481 8.12 0 Cytosol;Cytoplasm;Cell membrane NA PE1 4 +NX_P40424 430 46626 6.54 0 Nucleus Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay PE1 1 +NX_P40425 430 45881 7.18 0 Nucleoplasm;Nucleus NA PE1 6 +NX_P40426 434 47190 6.57 0 Cytoplasm;Nucleus NA PE1 9 +NX_P40429 203 23577 10.94 0 Cytoplasm NA PE1 19 +NX_P40616 181 20418 5.63 0 Golgi apparatus membrane;Golgi apparatus;Membrane NA PE1 12 +NX_P40617 200 22615 9.26 0 Nucleoplasm;Cytoplasm;Nucleolus;Cytosol;Cell membrane NA PE1 7 +NX_P40692 756 84601 5.51 0 Nucleoplasm;Nucleus;Chromosome Hereditary non-polyposis colorectal cancer 2;Endometrial cancer;Muir-Torre syndrome;Mismatch repair cancer syndrome;Colorectal cancer PE1 3 +NX_P40763 770 88068 5.94 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant;Autoimmune disease, multisystem, infantile-onset, 1 PE1 17 +NX_P40818 1118 127523 8.7 0 Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Endosome membrane;Nucleus Pituitary adenoma 4, ACTH-secreting PE1 15 +NX_P40855 299 32807 4.26 0 Cytoplasm;Peroxisome membrane;Peroxisome Peroxisome biogenesis disorder 12A;Peroxisome biogenesis disorder complementation group 14 PE1 1 +NX_P40879 764 84505 8.87 10 Apical cell membrane;Membrane Diarrhea 1, secretory chloride, congenital PE1 7 +NX_P40925 334 36426 6.91 0 Cytosol;Cytoplasm;Centrosome NA PE1 2 +NX_P40926 338 35503 8.92 0 Mitochondrion matrix;Mitochondrion Epileptic encephalopathy, early infantile, 51 PE1 7 +NX_P40933 162 18086 5.13 0 Nucleoplasm;Nucleus speckle;Cytoplasm;Nucleus;Secreted NA PE1 4 +NX_P40937 340 38497 6.72 0 Nucleoplasm;Nucleus NA PE1 12 +NX_P40938 356 40556 8.66 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 13 +NX_P40939 763 83000 9.16 0 Mitochondrion Maternal acute fatty liver of pregnancy;Long-chain 3-hydroxyl-CoA dehydrogenase deficiency;Mitochondrial trifunctional protein deficiency PE1 2 +NX_P40967 661 70255 5.37 1 Endoplasmic reticulum membrane;Melanosome;Multivesicular body;Golgi apparatus;Secreted NA PE1 12 +NX_P41002 786 87640 5.92 0 Centriole;Nucleus;Centrosome NA PE1 16 +NX_P41091 472 51109 8.66 0 NA MEHMO syndrome PE1 X +NX_P41134 155 16133 6.57 0 Nucleoplasm;Cytoplasm;Nucleus;Golgi apparatus NA PE1 20 +NX_P41143 372 40369 9.21 7 Cell membrane NA PE1 1 +NX_P41145 380 42645 7.92 7 Cytosol;Nucleus;Cell membrane NA PE1 8 +NX_P41146 370 40693 8.74 7 Cytoplasmic vesicle;Cell membrane NA PE1 20 +NX_P41159 167 18641 5.88 0 Secreted Leptin deficiency PE1 7 +NX_P41161 510 57838 5.43 0 Nucleoplasm;Nucleus NA PE1 3 +NX_P41162 512 57001 8.73 0 Nucleus NA PE1 1 +NX_P41180 1078 120675 5.62 7 Cell membrane Hyperparathyroidism, neonatal severe;Hypocalcemia, autosomal dominant 1;Epilepsy, idiopathic generalized 8;Hypocalciuric hypercalcemia, familial 1 PE1 3 +NX_P41181 271 28837 6.44 6 trans-Golgi network membrane;Cytoplasmic vesicle membrane;Apical cell membrane;Basolateral cell membrane Diabetes insipidus, nephrogenic, autosomal PE1 12 +NX_P41182 706 78846 8.28 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 3 +NX_P41208 172 19738 4.91 0 Centriole;Cytoplasm;Nucleus;Centrosome NA PE1 X +NX_P41212 452 53000 6.95 0 Cytosol;Nucleolus;Nucleus Leukemia, acute myelogenous;Thrombocytopenia 5;Myeloproliferative disorder chronic with eosinophilia PE1 12 +NX_P41214 584 64706 7.56 0 Cytosol;Cytoplasm;Nucleus NA PE1 1 +NX_P41217 278 31264 8.78 1 Cell membrane NA PE1 3 +NX_P41218 407 45836 9.76 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA PE1 1 +NX_P41219 470 53651 5.37 0 NA NA PE1 12 +NX_P41220 211 24382 9.05 0 Mitochondrion;Cytosol;Nucleolus;Cell membrane;Cytoplasm NA PE1 1 +NX_P41221 380 42339 8.83 0 Extracellular matrix;Secreted Robinow syndrome, autosomal dominant 1 PE1 3 +NX_P41222 190 21029 7.66 0 Rough endoplasmic reticulum;Nucleus membrane;Golgi apparatus;Secreted;Nucleoplasm;Perinuclear region NA PE1 9 +NX_P41223 144 17000 9.1 0 Cytoskeleton;Nucleus;Centrosome NA PE1 7 +NX_P41225 446 45210 9.78 0 Nucleoplasm;Nucleus 46,XX sex reversal 3;Mental retardation, X-linked, with isolated growth hormone deficiency;Panhypopituitarism X-linked PE1 X +NX_P41226 1012 111694 5.64 0 Nucleoplasm;Cytosol;Cytoplasmic vesicle NA PE1 3 +NX_P41227 235 26459 5.41 0 Cytosol;Cytoplasm;Nucleolus;Nucleus Microphthalmia, syndromic, 1;N-terminal acetyltransferase deficiency PE1 X +NX_P41229 1560 175720 5.44 0 Cytosol;Nucleoplasm;Nucleus Mental retardation, X-linked, syndromic, Claes-Jensen type PE1 X +NX_P41231 377 42273 9.72 7 Cytosol;Cell membrane NA PE1 11 +NX_P41235 474 52785 7.15 0 Nucleoplasm;Nucleus Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young;Diabetes mellitus, non-insulin-dependent;Maturity-onset diabetes of the young 1 PE1 20 +NX_P41236 205 23015 4.64 0 Cytoplasm;Nucleus NA PE1 3 +NX_P41238 236 28192 9.06 0 Cytoplasm NA PE1 12 +NX_P41240 450 50704 6.62 0 Cytoplasmic vesicle;Cytoplasm;Cytosol;Cell membrane NA PE1 15 +NX_P41247 253 27980 9.21 0 Mitochondrion NA PE1 X +NX_P41250 739 83166 6.61 0 Cytosol;Cytoplasm;Axon;Exosome;Secreted Charcot-Marie-Tooth disease 2D;Neuronopathy, distal hereditary motor, 5A PE1 7 +NX_P41252 1262 144498 5.82 0 Cytosol;Cytoplasm Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy PE1 9 +NX_P41271 181 19408 5.15 0 Secreted NA PE1 1 +NX_P41273 254 26625 6.52 1 Golgi apparatus;Membrane NA PE1 19 +NX_P41279 467 52925 5.54 0 Cytosol;Cytoplasm NA PE1 10 +NX_P41439 243 27638 8.12 0 Secreted NA PE1 11 +NX_P41440 591 64868 9.15 12 Cell membrane;Membrane NA PE1 21 +NX_P41567 113 12732 6.9 0 NA NA PE1 17 +NX_P41586 468 53314 5.5 7 Cytoplasmic vesicle;Cell membrane NA PE1 7 +NX_P41587 438 49479 8.29 7 Cell membrane NA PE1 7 +NX_P41594 1212 132469 8.07 7 Cell membrane NA PE1 11 +NX_P41595 481 54298 9.22 7 Nucleoplasm;Synaptosome;Cell membrane NA PE1 2 +NX_P41597 374 41915 9.24 7 Cell membrane NA PE1 3 +NX_P41732 249 27574 6.86 4 Membrane Mental retardation, X-linked 58 PE1 X +NX_P41743 596 68262 5.54 0 Endosome;Cytosol;Cytoplasm;Nucleus;Membrane;Cytoskeleton NA PE1 3 +NX_P41968 323 36043 6.34 7 Cell membrane NA PE1 20 +NX_P41970 407 44240 9.04 0 Mitochondrion;Nucleoplasm;Nucleus NA PE1 12 +NX_P42025 376 42293 5.98 0 Cytoplasm;Cytoskeleton;Centrosome NA PE1 2 +NX_P42081 329 37682 6.46 1 Cell membrane NA PE1 3 +NX_P42126 302 32816 8.8 0 Mitochondrion matrix NA PE1 16 +NX_P42127 132 14515 9.78 0 Cytoplasmic vesicle;Secreted NA PE1 20 +NX_P42166 694 75492 7.56 0 Nucleus;Chromosome;Nucleus membrane NA PE1 12 +NX_P42167 454 50670 9.39 1 Cytoplasm;Nucleus inner membrane NA PE1 12 +NX_P42224 750 87335 5.74 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Immunodeficiency 31B;Immunodeficiency 31C;Immunodeficiency 31A PE1 2 +NX_P42226 847 94135 5.84 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 12 +NX_P42229 794 90647 5.98 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 17 +NX_P42261 906 101506 7.79 3 Endoplasmic reticulum membrane;Early endosome membrane;Cell membrane;Dendrite;Postsynaptic cell membrane;Dendritic spine;Postsynaptic density;Recycling endosome membrane NA PE1 5 +NX_P42262 883 98821 7.48 3 Endoplasmic reticulum membrane;Postsynaptic cell membrane;Cell membrane NA PE1 4 +NX_P42263 894 101157 8.72 3 Postsynaptic cell membrane;Cell membrane Mental retardation, X-linked 94 PE1 X +NX_P42285 1042 117805 6.12 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 5 +NX_P42330 323 36853 8.06 0 Cytoplasm;Nucleus NA PE1 10 +NX_P42331 645 73435 6.04 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 2 +NX_P42336 1068 124284 6.88 0 Cytosol Colorectal cancer;Keratosis, seborrheic;Ovarian cancer;Cowden syndrome 5;Hepatocellular carcinoma;Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi;Megalencephaly-capillary malformation-polymicrogyria syndrome;Breast cancer PE1 3 +NX_P42338 1070 122762 6.69 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Midbody NA PE1 3 +NX_P42345 2549 288892 6.73 0 Endoplasmic reticulum membrane;PML body;Lysosome;Cytosol;Cytoplasm;Mitochondrion outer membrane;Cytoplasmic vesicle;Golgi apparatus membrane;Microsome membrane Focal cortical dysplasia 2;Smith-Kingsmore syndrome PE1 1 +NX_P42356 2102 236830 6.64 0 Cytoplasm;Cell membrane Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis PE1 22 +NX_P42357 657 72698 6.49 0 Cytosol Histidinemia PE1 12 +NX_P42566 896 98656 4.52 0 Cytosol;Cytoplasm;Early endosome membrane;Clathrin-coated pit;Cell membrane;Cytoplasmic vesicle NA PE1 1 +NX_P42568 568 63351 8.77 0 Cytosol;Nucleoplasm;Nucleus;Chromosome NA PE1 9 +NX_P42574 277 31608 6.09 0 Nucleoplasm;Mitochondrion;Cytoplasm NA PE1 4 +NX_P42575 452 50685 6.35 0 Nucleoplasm NA PE1 7 +NX_P42658 865 97588 5.95 1 Cell membrane Mental retardation, autosomal dominant 33;Familial paroxysmal ventricular fibrillation 2 PE1 7 +NX_P42677 84 9461 9.57 0 NA Diamond-Blackfan anemia 17 PE1 1 +NX_P42679 507 56469 9.01 0 Cytoplasm;Membrane NA PE1 19 +NX_P42680 631 73581 8.69 0 Cytoplasm;Cytoskeleton;Cell membrane NA PE1 4 +NX_P42681 527 61258 8.23 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cell membrane NA PE1 4 +NX_P42684 1182 128343 8.31 0 Nucleoplasm;Cytoskeleton NA PE1 1 +NX_P42685 505 58254 6.22 0 Cytosol;Cytoplasm;Nucleus NA PE1 6 +NX_P42694 1942 218970 7.04 0 Cytoskeleton;Nucleolus;Nucleus;Cell membrane NA PE1 17 +NX_P42695 1498 168891 7.38 0 Nucleoplasm;Nucleus Microcephaly 22, primary, autosomal recessive PE1 11 +NX_P42696 430 48565 10.11 0 Nucleolus;Nucleus NA PE1 1 +NX_P42701 662 73109 5.28 1 Cell membrane;Membrane Immunodeficiency 30 PE1 19 +NX_P42702 1097 123743 5.5 1 Nucleus speckle;Cell membrane;Golgi apparatus Stueve-Wiedemann syndrome PE1 5 +NX_P42704 1394 157905 5.81 0 Mitochondrion;Nucleoplasm;Nucleus inner membrane;Nucleus outer membrane Leigh syndrome French-Canadian type PE1 2 +NX_P42765 397 41924 8.32 0 Mitochondrion NA PE1 18 +NX_P42766 123 14551 11.04 0 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum NA PE1 9 +NX_P42768 502 52913 6.18 0 Cytoskeleton;Nucleus Thrombocytopenia 1;Neutropenia, severe congenital, X-linked;Wiskott-Aldrich syndrome PE1 X +NX_P42771 156 16533 5.52 0 Cytoplasm;Nucleus Melanoma, cutaneous malignant 2;Melanoma-astrocytoma syndrome;Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome PE1 9 +NX_P42772 138 14722 6.08 0 Nucleoplasm;Cytoplasm NA PE1 9 +NX_P42773 168 18127 6.05 0 Nucleoplasm;Cytosol NA PE1 1 +NX_P42785 496 55800 6.76 0 Lysosome NA PE1 11 +NX_P42830 114 11972 9.17 0 Secreted NA PE1 4 +NX_P42857 185 20913 5.6 1 Endoplasmic reticulum membrane;Golgi stack membrane;Lysosome lumen;trans-Golgi network membrane;Early endosome membrane;Endosome membrane;Dendrite;Late endosome membrane;Multivesicular body membrane;Membrane;Mitochondrion;Cytoplasmic vesicle membrane;Recycling endosome membrane NA PE1 4 +NX_P42858 3142 347603 5.81 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Huntington disease;Lopes-Maciel-Rodan syndrome PE1 4 +NX_P42892 770 87164 5.61 1 Cell membrane Hirschsprung disease, cardiac defects, and autonomic dysfunction PE1 1 +NX_P42898 656 74597 5.22 0 Cell junction Ischemic stroke;Neural tube defects, folate-sensitive;Schizophrenia;Methylenetetrahydrofolate reductase deficiency PE1 1 +NX_P43003 542 59572 8.52 8 Mitochondrion;Nucleolus;Cell membrane Episodic ataxia 6 PE1 5 +NX_P43004 574 62104 6.09 8 Cell membrane Epileptic encephalopathy, early infantile, 41 PE1 11 +NX_P43005 524 57100 5.56 8 Apical cell membrane;Cell membrane Schizophrenia 18;Dicarboxylic aminoaciduria PE1 9 +NX_P43007 532 55723 5.88 9 Melanosome;Centrosome;Membrane Spastic tetraplegia, thin corpus callosum, and progressive microcephaly PE1 2 +NX_P43026 501 55411 9.82 0 Cell membrane;Secreted Brachydactyly A1, C;Brachydactyly A2;Symphalangism, proximal 1B;Multiple synostoses syndrome 2;Acromesomelic chondrodysplasia, Hunter-Thompson type;Osteoarthritis 5;Du Pan syndrome;Brachydactyly C;Acromesomelic chondrodysplasia, Grebe type PE1 20 +NX_P43034 410 46638 6.97 0 Spindle;Cytoskeleton;Centrosome;Nucleus membrane Lissencephaly 1;Subcortical band heterotopia;Miller-Dieker lissencephaly syndrome PE1 17 +NX_P43080 201 22920 4.34 0 Cell membrane;Membrane Cone dystrophy 3 PE1 6 +NX_P43088 359 40055 9.19 7 Cell membrane NA PE1 1 +NX_P43115 390 43310 9.73 7 Cell membrane NA PE1 1 +NX_P43116 358 39761 9.37 7 Cell membrane NA PE1 14 +NX_P43119 386 40956 8.9 7 Cell membrane NA PE1 19 +NX_P43121 646 71607 5.58 1 Cell membrane;Membrane NA PE1 11 +NX_P43146 1447 158457 6.32 1 Golgi apparatus;Membrane Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2 PE1 18 +NX_P43155 626 70858 8.63 0 Nucleus membrane;Nucleoplasm;Endoplasmic reticulum;Mitochondrion inner membrane;Peroxisome;Mitochondrion Neurodegeneration with brain iron accumulation 8 PE1 9 +NX_P43166 264 29658 6.92 0 Cytoplasm NA PE1 16 +NX_P43220 463 53026 8.49 7 Cell membrane NA PE1 6 +NX_P43234 321 35958 7.06 0 Lysosome NA PE1 4 +NX_P43235 329 36966 8.72 0 Cytoplasmic vesicle;Lysosome Pycnodysostosis PE1 1 +NX_P43243 847 94623 5.87 0 Nucleoplasm;Nucleus matrix Amyotrophic lateral sclerosis 21 PE1 5 +NX_P43246 934 104743 5.58 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Chromosome Endometrial cancer;Hereditary non-polyposis colorectal cancer 1;Mismatch repair cancer syndrome;Muir-Torre syndrome;Colorectal cancer PE1 2 +NX_P43250 576 65991 8.32 0 Mitochondrion;Membrane NA PE1 5 +NX_P43251 543 61133 5.81 0 Extracellular space Biotinidase deficiency PE1 3 +NX_P43268 484 53938 5.31 0 Nucleolus;Nucleus NA PE1 17 +NX_P43304 727 80853 7.58 0 Mitochondrion NA PE1 2 +NX_P43307 286 32235 4.39 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 6 +NX_P43308 183 20135 7.94 1 Endoplasmic reticulum membrane NA PE1 1 +NX_P43320 205 23380 6.5 0 Nucleoplasm Cataract 3, multiple types PE1 22 +NX_P43351 418 46169 8.49 0 Nucleus speckle;Nucleus;Cell membrane NA PE1 12 +NX_P43353 468 51840 7.55 0 Cell membrane NA PE1 11 +NX_P43354 598 66591 8.19 0 Cytoplasm;Nucleus;Nucleus speckle NA PE1 2 +NX_P43355 309 34342 4.83 0 Cytosol;Cytoplasm;Nucleus NA PE1 X +NX_P43356 314 35055 4.7 0 PML body;Nucleus NA PE1 X +NX_P43357 314 34747 4.57 0 NA NA PE1 X +NX_P43358 317 34899 4.68 0 Cytosol;Nucleus speckle NA PE1 X +NX_P43359 124 13016 4.63 0 NA NA PE2 X +NX_P43360 314 34891 4.57 0 NA NA PE1 X +NX_P43361 318 35215 4.71 0 NA NA PE1 X +NX_P43362 315 35088 4.49 0 NA NA PE1 X +NX_P43363 369 40780 4.32 0 Nucleoplasm;Cytosol;Nucleus NA PE1 X +NX_P43364 429 48129 4.69 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 X +NX_P43365 314 34836 4.71 0 NA NA PE1 X +NX_P43366 347 39037 8.56 0 NA NA PE1 X +NX_P43378 593 68020 8.19 0 Cytoplasmic vesicle;Cytoplasm NA PE1 15 +NX_P43403 619 69872 7.78 0 Cytoplasm;Cell membrane Immunodeficiency 48;Autoimmune disease, multisystem, infantile-onset, 2 PE1 2 +NX_P43405 635 72066 8.43 0 Cytosol;Cytoplasmic vesicle;Cell membrane NA PE1 9 +NX_P43487 201 23310 5.19 0 Cytosol;Cytoplasm NA PE1 22 +NX_P43489 277 29341 8.68 1 Membrane Immunodeficiency 16 PE1 1 +NX_P43490 491 55521 6.69 0 Nucleus speckle;Secreted;Nucleus;Cell junction;Cytoplasm NA PE1 7 +NX_P43626 348 38505 6.34 1 Cell membrane NA PE1 19 +NX_P43627 348 38472 6.46 1 Cell membrane NA PE1 19 +NX_P43628 341 37886 6.23 1 Cell membrane NA PE1 19 +NX_P43629 444 49098 9.02 1 Cell membrane NA PE1 19 +NX_P43630 455 50230 8.78 1 Cell membrane NA PE1 19 +NX_P43631 304 33502 6.13 1 Cell membrane NA PE1 19 +NX_P43632 304 33583 5.98 1 Cell membrane NA PE1 19 +NX_P43652 599 69069 5.64 0 Secreted NA PE1 4 +NX_P43657 344 39392 9.22 7 Cytoplasmic vesicle;Cell membrane Hypotrichosis 8;Woolly hair autosomal recessive 1 with or without hypotrichosis PE1 13 +NX_P43681 627 69957 6.81 4 Postsynaptic cell membrane;Cell membrane Epilepsy, nocturnal frontal lobe, 1 PE1 20 +NX_P43686 418 47366 5.09 0 Cytosol;Cytoplasm;Nucleus NA PE1 19 +NX_P43694 442 44565 9.39 0 Nucleus Atrioventricular septal defect 4;Testicular anomalies with or without congenital heart disease;Tetralogy of Fallot;Atrial septal defect 2;Ventricular septal defect 1 PE1 8 +NX_P43699 371 38596 9.72 0 Cytoplasmic vesicle;Nucleus;Golgi apparatus Chorea, hereditary benign;Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction;Thyroid cancer, non-medullary, 1 PE1 14 +NX_P43897 325 35391 8.62 0 Mitochondrion;Nucleus Combined oxidative phosphorylation deficiency 3 PE1 12 +NX_P45378 269 31825 5.71 0 NA Arthrogryposis, distal, 2B PE1 11 +NX_P45379 298 35924 4.94 0 Focal adhesion;Nucleolus;Nucleus Cardiomyopathy, familial hypertrophic 2;Cardiomyopathy, dilated 1D;Cardiomyopathy, familial restrictive 3 PE1 1 +NX_P45381 313 35735 6.06 0 Cytosol;Cytoplasm;Nucleus Canavan disease PE1 17 +NX_P45452 471 53820 5.32 0 Extracellular matrix;Secreted Metaphyseal dysplasia, Spahr type;Spondyloepimetaphyseal dysplasia Missouri type;Metaphyseal anadysplasia 1 PE1 11 +NX_P45844 678 75592 8.02 6 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus NA PE1 21 +NX_P45877 212 22763 8.48 0 Cytoplasm NA PE1 5 +NX_P45880 294 31567 7.5 19 Mitochondrion;Mitochondrion outer membrane NA PE1 10 +NX_P45954 432 47485 6.53 0 Mitochondrion;Mitochondrion matrix Short/branched-chain acyl-CoA dehydrogenase deficiency PE1 10 +NX_P45973 191 22225 5.71 0 Centromere;Nucleus;Chromosome NA PE1 12 +NX_P45974 858 95786 4.91 0 Cytosol;Nucleoplasm NA PE1 12 +NX_P45983 427 48296 6.43 0 Cytoplasm;Nucleus NA PE1 10 +NX_P45984 424 48139 5.41 0 Cytoplasm;Nucleus NA PE1 5 +NX_P45985 399 44288 8.28 0 Nucleoplasm;Cytoplasm;Nucleus;Cell junction NA PE1 17 +NX_P46013 3256 358694 9.49 0 Nucleolus;Nucleus;Chromosome NA PE1 10 +NX_P46019 1235 138408 5.99 0 Nucleoplasm;Cell membrane Glycogen storage disease 9A PE1 X +NX_P46020 1223 137312 5.8 0 Cytoplasmic vesicle;Cell membrane Glycogen storage disease 9D PE1 X +NX_P46059 708 78806 8.72 12 Cytosol;Nucleoplasm;Membrane NA PE1 13 +NX_P46060 587 63542 4.63 0 Kinetochore;Nucleus membrane;Cytosol;Cytoplasm;Nucleus envelope;Cytoplasmic vesicle;Nucleoplasm;Spindle NA PE1 22 +NX_P46063 649 73457 8.13 0 Nucleoplasm;Nucleus NA PE1 12 +NX_P46087 812 89302 9.27 0 Nucleolus;Nucleus NA PE1 12 +NX_P46089 330 35010 8.4 7 Cell membrane NA PE1 1 +NX_P46091 355 41431 6.98 7 Nucleoplasm;Cytoplasmic vesicle;Cell membrane NA PE1 2 +NX_P46092 362 38416 9.85 7 Cell membrane;Endoplasmic reticulum NA PE1 17 +NX_P46093 362 40982 8.82 7 Cell membrane NA PE2 19 +NX_P46094 333 38508 8.94 7 Cell membrane NA PE1 3 +NX_P46095 362 37881 7.61 7 Cell membrane NA PE1 6 +NX_P46098 478 55280 7.04 4 Postsynaptic cell membrane;Cell membrane NA PE1 11 +NX_P46100 2492 282586 6.2 0 PML body;Nucleus;Telomere Alpha-thalassemia mental retardation syndrome, X-linked;Alpha-thalassemia myelodysplasia syndrome;Mental retardation, X-linked, syndromic, with hypotonic facies 1 PE1 X +NX_P46108 304 33831 5.38 0 Cytoplasm;Cell membrane NA PE1 17 +NX_P46109 303 33777 6.26 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 22 +NX_P46199 727 81317 6.71 0 Mitochondrion NA PE1 2 +NX_P46379 1132 119409 5.4 0 Nucleoplasm;Cytosol;Nucleus;Exosome NA PE1 6 +NX_P46439 218 25675 6.91 0 Cytoplasm NA PE1 1 +NX_P46459 744 82594 6.52 0 Cytosol;Cytoplasm NA PE1 17 +NX_P46527 198 22073 6.54 0 Cytoplasmic vesicle;Cytoplasm;Endosome;Nucleus Multiple endocrine neoplasia 4 PE1 12 +NX_P46531 2555 272505 4.95 1 Nucleoplasm;Nucleus;Cell membrane Aortic valve disease 1;Adams-Oliver syndrome 5 PE1 9 +NX_P46597 345 38453 5.05 0 NA NA PE1 X +NX_P46663 353 40495 9.5 7 Cell membrane NA PE1 14 +NX_P46695 156 16903 8.61 1 Membrane NA PE1 6 +NX_P46721 670 74145 5.69 12 Cell membrane NA PE1 12 +NX_P46734 347 39318 7.05 0 Nucleoplasm;Cytosol NA PE1 17 +NX_P46736 316 36072 5.59 0 Nucleoplasm;Cytoplasm;Nucleus;Spindle pole NA PE1 X +NX_P46776 148 16561 11 0 Cytosol;Nucleolus;Nucleus;Endoplasmic reticulum NA PE1 11 +NX_P46777 297 34363 9.73 0 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum Diamond-Blackfan anemia 6 PE1 1 +NX_P46778 160 18565 10.49 0 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum Hypotrichosis 12 PE1 13 +NX_P46779 137 15748 12.02 0 Cytosol;Endoplasmic reticulum NA PE1 19 +NX_P46781 194 22591 10.66 0 Cytoplasm NA PE1 19 +NX_P46782 204 22876 9.73 0 Cytosol;Endoplasmic reticulum NA PE1 19 +NX_P46783 165 18898 10.15 0 Cytoplasm;Nucleolus Diamond-Blackfan anemia 9 PE1 6 +NX_P46821 2468 270634 4.73 0 Cytosol;Cytoplasm;Synapse;Cytoskeleton;Dendritic spine NA PE1 5 +NX_P46926 289 32669 6.42 0 Cytoplasm NA PE1 5 +NX_P46934 1319 149114 6.15 0 Cytosol;Cytoplasm;Cell membrane NA PE1 15 +NX_P46937 504 54462 5 0 Cytoplasm;Nucleolus;Nucleus Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation PE1 11 +NX_P46939 3433 394466 5.2 0 Nucleoplasm;Cytoskeleton;Postsynaptic cell membrane;Cell membrane NA PE1 6 +NX_P46940 1657 189252 6.08 0 Cytoplasm;Nucleus;Cell junction;Cell membrane NA PE1 15 +NX_P46952 286 32556 5.62 0 Cytosol Vertebral, cardiac, renal, and limb defects syndrome 1 PE1 2 +NX_P46976 350 39384 5.27 0 Cytoplasmic vesicle Glycogen storage disease 15;Polyglucosan body myopathy 2 PE1 3 +NX_P46977 705 80530 8.28 13 Endoplasmic reticulum membrane;Cytosol;Cytoplasmic vesicle;Endoplasmic reticulum;Nucleoplasm Congenital disorder of glycosylation 1W PE1 11 +NX_P47211 349 38953 9.55 7 Cell membrane NA PE1 18 +NX_P47224 123 13839 5.37 0 Cytoskeleton NA PE1 1 +NX_P47710 185 21671 5.32 0 Secreted NA PE1 4 +NX_P47712 749 85239 5.22 0 Cytoplasmic vesicle;Cytoplasm;Cytosol NA PE1 1 +NX_P47736 663 73361 5.55 0 Cytosol;Golgi apparatus membrane NA PE1 1 +NX_P47755 286 32949 5.57 0 Cytosol;Cytoplasm;Endoplasmic reticulum NA PE1 7 +NX_P47756 277 31350 5.36 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm;Sarcomere;Cytoskeleton NA PE1 1 +NX_P47775 334 36730 6.63 7 Cell membrane NA PE1 13 +NX_P47804 291 31874 8.35 7 Membrane Retinitis pigmentosa 44 PE1 10 +NX_P47813 144 16460 5.07 0 Cytoplasm NA PE1 X +NX_P47869 451 51326 9.17 4 Dendrite;Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane NA PE1 4 +NX_P47870 512 59150 9.39 4 Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, infantile or early childhood, 2 PE1 5 +NX_P47871 477 54009 9.01 7 Golgi apparatus;Cell membrane NA PE1 17 +NX_P47872 440 50207 7.88 7 Cell membrane NA PE1 2 +NX_P47874 163 18937 5.33 0 Cytoplasm NA PE1 11 +NX_P47881 315 34609 9.27 7 Cell membrane NA PE2 17 +NX_P47883 348 37194 6.47 7 Cell membrane NA PE5 17 +NX_P47884 311 35227 8.29 7 Cell membrane NA PE1 17 +NX_P47887 323 36391 7.9 7 Cell membrane NA PE2 17 +NX_P47888 321 34963 7.01 7 Cell membrane NA PE2 17 +NX_P47890 313 34924 6.53 7 Cell membrane NA PE2 17 +NX_P47893 321 35207 7.56 7 Cell membrane NA PE2 17 +NX_P47895 512 56108 6.99 0 Cytosol;Cytoplasm;Nucleus Microphthalmia, isolated, 8 PE1 15 +NX_P47897 775 87799 6.71 0 Cytosol;Cytoplasm Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PE1 3 +NX_P47898 357 40255 9 7 Cell membrane NA PE2 7 +NX_P47900 373 42072 9.45 7 Cell membrane NA PE1 3 +NX_P47901 424 46971 9.21 7 Cell membrane NA PE2 1 +NX_P47902 265 28138 9.58 0 Nucleus NA PE1 5 +NX_P47914 159 17752 11.66 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA PE1 3 +NX_P47928 161 16622 8.69 0 Nucleus NA PE1 6 +NX_P47929 136 15075 7.02 0 Cytoplasm;Nucleus;Secreted NA PE1 19 +NX_P47944 62 6509 8.26 0 NA NA PE2 16 +NX_P47972 431 47042 5.45 0 Cytoskeleton;Centrosome;Golgi apparatus;Secreted NA PE1 7 +NX_P47974 494 51063 8.52 0 Cytoplasm;Nucleus NA PE1 2 +NX_P47985 274 29668 8.55 1 Cytoplasm;Mitochondrion inner membrane NA PE1 19 +NX_P47989 1333 146424 7.86 0 Cytoplasm;Secreted;Nucleus;Peroxisome Xanthinuria 1 PE1 2 +NX_P47992 114 12517 10.22 0 Secreted NA PE1 1 +NX_P48023 281 31485 9.41 1 Cytoplasmic vesicle lumen;Lysosome lumen;Nucleus;Cell membrane;Secreted Autoimmune lymphoproliferative syndrome 1B PE1 1 +NX_P48029 635 70523 6.02 12 Membrane Cerebral creatine deficiency syndrome 1 PE1 X +NX_P48039 350 39375 9.55 7 Cell membrane NA PE1 4 +NX_P48047 213 23277 9.97 0 Mitochondrion;Mitochondrion inner membrane NA PE1 21 +NX_P48048 391 44795 9.03 2 Cell membrane Bartter syndrome 2, antenatal PE1 11 +NX_P48050 445 49500 5.82 2 Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane NA PE1 22 +NX_P48051 423 48451 5.24 2 Membrane Keppen-Lubinsky syndrome PE1 21 +NX_P48052 419 47030 5.68 0 Secreted NA PE1 7 +NX_P48058 902 100871 8.32 3 Dendrite;Postsynaptic cell membrane;Cell membrane Neurodevelopmental disorder with or without seizures and gait abnormalities PE1 11 +NX_P48059 325 37251 8.43 0 Focal adhesion;Cell membrane NA PE1 2 +NX_P48060 266 30366 8.8 1 Membrane NA PE1 12 +NX_P48061 93 10666 9.92 0 Secreted NA PE1 10 +NX_P48065 614 69368 5.96 12 Cytoplasmic vesicle;Membrane NA PE1 12 +NX_P48066 632 70606 6.52 12 Membrane NA PE1 3 +NX_P48067 706 78260 8.21 12 Nucleus;Golgi apparatus;Membrane Glycine encephalopathy with normal serum glycine PE1 1 +NX_P48145 328 36103 9.05 7 Cell membrane NA PE1 8 +NX_P48146 333 36861 9.35 7 Cell membrane NA PE1 20 +NX_P48147 710 80700 5.53 0 Cytosol;Cytoplasm NA PE1 6 +NX_P48163 572 64150 5.79 0 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA PE1 6 +NX_P48165 433 48229 5.21 4 Gap junction;Cell membrane Cataract 1, multiple types PE1 1 +NX_P48167 497 56122 9.03 4 Cytoplasm;Synapse;Postsynaptic cell membrane;Cell membrane;Dendrite Hyperekplexia 2 PE1 4 +NX_P48169 554 61623 9.59 4 Postsynaptic cell membrane;Cell membrane NA PE1 4 +NX_P48200 963 105059 6.62 0 Cytosol;Cytoplasm;Cell junction NA PE1 15 +NX_P48201 142 14693 9.57 2 Mitochondrion membrane NA PE1 2 +NX_P48230 202 21396 4.91 4 Cytosol;Cell membrane;Membrane NA PE1 3 +NX_P48304 166 18665 5.67 0 Secreted NA PE1 2 +NX_P48307 235 26934 8.88 0 Secreted NA PE1 7 +NX_P48357 1165 132494 6.09 1 Cytoplasmic vesicle;Basolateral cell membrane;Cell membrane;Secreted Leptin receptor deficiency PE1 1 +NX_P48378 723 79987 6.29 0 Cytosol;Nucleoplasm;Nucleus;Golgi apparatus;Cytoplasm NA PE1 19 +NX_P48380 749 83530 5.64 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 9 +NX_P48382 616 65323 9.35 0 Nucleus Bare lymphocyte syndrome 2 PE1 1 +NX_P48426 406 46225 6.5 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Cell membrane NA PE1 10 +NX_P48431 317 34310 9.74 0 Nucleoplasm;Nucleus Microphthalmia, syndromic, 3 PE1 3 +NX_P48436 509 56137 6.31 0 Nucleoplasm;Nucleus 46,XX sex reversal 2;46,XY sex reversal 10;Campomelic dysplasia PE1 17 +NX_P48443 463 50871 7.55 0 Nucleoplasm;Nucleus NA PE1 1 +NX_P48444 511 57210 5.89 0 COPI-coated vesicle membrane;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay PE1 11 +NX_P48448 385 42635 5.65 0 Lipid droplet NA PE2 11 +NX_P48449 732 83309 6.16 0 Cytosol;Endoplasmic reticulum membrane Cataract 44 PE1 21 +NX_P48454 512 58129 6.51 0 Cytoplasmic vesicle NA PE1 8 +NX_P48506 637 72766 5.74 0 Cytosol;Nucleolus;Nucleus Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency PE1 6 +NX_P48507 274 30727 5.7 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 1 +NX_P48509 253 28295 7.45 4 Membrane Nephropathy with pretibial epidermolysis bullosa and deafness PE1 11 +NX_P48539 62 6791 6.21 0 Cytosol;Nucleolus;Nucleus NA PE1 21 +NX_P48544 419 47668 5.24 2 Membrane Long QT syndrome 13;Hyperaldosteronism, familial, 3 PE1 11 +NX_P48546 466 53157 9.09 7 Cell membrane NA PE1 19 +NX_P48547 511 57942 6.13 6 Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane;Nucleus membrane Epilepsy, progressive myoclonic 7 PE1 11 +NX_P48549 501 56603 8.46 2 Membrane NA PE1 2 +NX_P48551 515 57759 4.37 1 Cell membrane;Secreted Immunodeficiency 45 PE1 21 +NX_P48552 1158 126942 8.36 0 Nucleolus;Nucleus NA PE1 21 +NX_P48553 1259 142189 5.68 0 cis-Golgi network NA PE1 21 +NX_P48556 350 39612 9.73 0 Cytosol;Cytoplasm;Golgi apparatus;Nucleus speckle NA PE1 19 +NX_P48594 390 44854 5.86 0 Cytoplasm NA PE1 18 +NX_P48595 397 45403 5.8 0 Cytoplasm;Nucleus NA PE1 18 +NX_P48634 2157 228863 9.48 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane;Cytoplasm NA PE1 6 +NX_P48637 474 52385 5.67 0 Nucleus Glutathione synthetase deficiency of erythrocytes;Glutathione synthetase deficiency PE1 20 +NX_P48643 541 59671 5.45 0 Cytosol;Cytoplasm;Nucleolus;Centrosome Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive PE1 5 +NX_P48645 174 19741 9.14 0 Secreted NA PE1 4 +NX_P48651 473 55528 8.71 9 Nucleoplasm;Endoplasmic reticulum membrane;Endoplasmic reticulum Lenz-Majewski hyperostotic dwarfism PE1 8 +NX_P48664 564 61565 9.26 8 Cytoskeleton;Cell membrane NA PE1 19 +NX_P48668 564 60025 8.09 0 NA Palmoplantar keratoderma, non-epidermolytic, focal or diffuse PE1 12 +NX_P48681 1621 177439 4.35 0 Cytoskeleton NA PE1 1 +NX_P48723 471 51927 5.52 0 Microsome;Endoplasmic reticulum NA PE1 21 +NX_P48728 403 43946 8.87 0 Mitochondrion;Nucleoplasm Non-ketotic hyperglycinemia PE1 3 +NX_P48729 337 38915 9.59 0 Kinetochore;Nucleus speckle;Cilium basal body;Centrosome;Cytoplasm NA PE1 5 +NX_P48730 415 47330 9.77 0 Nucleolus;Golgi apparatus;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Spindle;Centrosome Advanced sleep phase syndrome, familial, 2 PE1 17 +NX_P48735 452 50909 8.88 0 Mitochondrion Glioma;D-2-hydroxyglutaric aciduria 2 PE1 15 +NX_P48736 1102 126454 7.23 0 Cytoplasm;Cell membrane NA PE1 7 +NX_P48739 271 31540 6.41 0 Cytoplasm;Golgi apparatus NA PE1 22 +NX_P48740 699 79247 5.29 0 Nucleoplasm;Cytosol;Secreted 3MC syndrome 1 PE1 3 +NX_P48741 367 40244 7.72 0 NA NA PE5 1 +NX_P48742 406 44808 7.86 0 Nucleus NA PE1 17 +NX_P48745 357 39162 8.12 0 Cytoplasmic vesicle;Cytoplasm;Gap junction;Secreted NA PE1 8 +NX_P48751 1232 135791 6.01 10 Nucleoplasm;Membrane NA PE1 2 +NX_P48764 834 92855 7.05 10 Apical cell membrane;Cell membrane Diarrhea 8, secretory sodium, congenital PE1 5 +NX_P48775 406 47872 6.46 0 Cytosol;Cell membrane Hypertryptophanemia PE1 4 +NX_P48788 182 21339 8.87 0 Cytoskeleton;Cell membrane Arthrogryposis, distal, 2B PE1 11 +NX_P48960 835 91869 6.5 7 Cytosol;Extracellular space;Cell membrane NA PE1 19 +NX_P48995 793 91212 8.33 6 Cytoplasmic vesicle;Membrane NA PE1 3 +NX_P49005 469 51289 5.35 0 Nucleoplasm;Nucleus NA PE1 7 +NX_P49006 195 19529 4.68 0 Cytosol;Nucleoplasm;Cytoskeleton;Cell membrane NA PE1 1 +NX_P49019 387 44478 9.09 7 Cell membrane NA PE1 12 +NX_P49023 591 64505 5.8 0 Cytosol;Cytoskeleton;Focal adhesion;Cell cortex;Centrosome NA PE1 12 +NX_P49069 296 32953 8.2 2 Cytoplasmic vesicle;Nucleolus;Nucleus;Membrane NA PE1 5 +NX_P49116 596 65414 5.89 0 Nucleoplasm;Nucleus NA PE1 3 +NX_P49137 400 45568 8.87 0 Nucleoplasm;Cytoplasm;Nucleus;Centrosome NA PE1 1 +NX_P49146 381 42731 6.79 7 Cell membrane NA PE1 4 +NX_P49184 302 33893 5.45 0 Endoplasmic reticulum NA PE1 X +NX_P49189 494 53802 5.69 0 Cytosol;Cytoplasm NA PE1 1 +NX_P49190 550 62236 6.65 7 Cell membrane NA PE1 2 +NX_P49207 117 13293 11.48 0 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum NA PE1 4 +NX_P49221 684 77145 6.31 0 NA NA PE1 3 +NX_P49223 89 10252 6.21 0 Secreted NA PE1 20 +NX_P49238 355 40396 6.74 7 Nucleus;Cell membrane Macular degeneration, age-related, 12 PE1 3 +NX_P49247 311 33269 8.78 0 NA Ribose 5-phosphate isomerase deficiency PE1 2 +NX_P49257 510 57549 6.3 1 Cytosol;Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane Factor V and factor VIII combined deficiency 1 PE1 18 +NX_P49279 550 59872 7.58 12 Membrane NA PE1 2 +NX_P49281 568 62266 5.72 12 Endosome membrane;Mitochondrion;Mitochondrion outer membrane;Cell membrane;Early endosome Anemia, hypochromic microcytic, with iron overload 1 PE1 12 +NX_P49286 362 40188 9.12 7 Cell membrane NA PE1 11 +NX_P49321 788 85238 4.26 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_P49326 533 60221 8.41 1 Endoplasmic reticulum membrane;Microsome membrane;Cytosol;Endoplasmic reticulum NA PE1 1 +NX_P49327 2511 273427 6.01 0 Cytosol;Cytoplasm;Melanosome;Cell membrane NA PE1 17 +NX_P49335 361 39427 7.07 0 Nucleus Deafness, X-linked, 2 PE1 X +NX_P49336 464 53284 8.72 0 Nucleus NA PE1 13 +NX_P49354 379 44409 4.96 0 Cytosol NA PE1 8 +NX_P49356 437 48774 5.51 0 Centrosome NA PE1 14 +NX_P49366 369 40971 5.22 0 Nucleoplasm;Cytosol;Cell membrane NA PE1 19 +NX_P49368 545 60534 6.1 0 Cytosol;Cytoplasm;Cell membrane NA PE1 1 +NX_P49406 292 33535 9.55 0 Mitochondrion NA PE1 2 +NX_P49407 418 47066 5.84 0 Pseudopodium;Nucleoplasm;Cytoplasm;Clathrin-coated pit;Cell membrane;Cytoplasmic vesicle;Nucleus NA PE1 11 +NX_P49411 452 49542 7.26 0 Mitochondrion Combined oxidative phosphorylation deficiency 4 PE1 16 +NX_P49418 695 76257 4.58 0 Cytosol;Synaptic vesicle membrane;Cytoskeleton;Cell membrane NA PE1 7 +NX_P49419 539 58487 8.21 0 Cytosol;Mitochondrion;Nucleus Pyridoxine-dependent epilepsy PE1 5 +NX_P49427 236 26737 4.41 0 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA PE1 19 +NX_P49441 399 43998 5.15 0 Cytoplasmic vesicle NA PE1 2 +NX_P49447 251 27559 8.73 6 Membrane NA PE1 17 +NX_P49448 558 61434 8.63 0 Mitochondrion matrix NA PE1 X +NX_P49450 140 15991 11.71 0 Nucleoplasm;Kinetochore;Centromere;Nucleus NA PE1 2 +NX_P49454 3210 367764 5.03 0 Kinetochore;Nucleoplasm;Perinuclear region;Nucleus matrix;Spindle Stromme syndrome PE1 1 +NX_P49458 86 10112 7.76 0 Cytoplasm NA PE1 1 +NX_P49459 152 17315 5.06 0 NA Mental retardation, X-linked, syndromic, Nascimento-type PE1 X +NX_P49585 367 41731 6.82 0 Cytosol;Nucleus;Membrane Spondylometaphyseal dysplasia with cone-rod dystrophy PE1 3 +NX_P49588 968 106810 5.34 0 Cytosol;Cytoplasm Charcot-Marie-Tooth disease 2N;Epileptic encephalopathy, early infantile, 29 PE1 16 +NX_P49589 748 85473 6.31 0 Cytosol;Cytoplasm NA PE1 11 +NX_P49590 506 56888 8.53 0 Mitochondrion matrix;Cytosol Perrault syndrome 2 PE1 5 +NX_P49591 514 58777 6.05 0 Cytosol;Cytoplasm;Nucleus Neurodevelopmental disorder with microcephaly, ataxia, and seizures PE1 1 +NX_P49593 454 49831 4.99 0 Nucleoplasm;Cell membrane NA PE1 22 +NX_P49619 791 89124 6.36 0 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Membrane NA PE1 3 +NX_P49638 278 31750 7.17 0 Cytoplasm Ataxia with isolated vitamin E deficiency PE1 8 +NX_P49639 335 36641 8.13 0 Nucleus Bosley-Salih-Alorainy syndrome;Athabaskan brainstem dysgenesis syndrome PE1 7 +NX_P49640 407 42440 6.41 0 Nucleoplasm;Nucleus NA PE2 7 +NX_P49641 1150 130539 6.35 1 Cytosol;Golgi apparatus membrane NA PE1 15 +NX_P49642 420 49902 8.39 0 Cytoplasmic vesicle NA PE1 12 +NX_P49643 509 58806 7.97 0 Nucleoplasm NA PE1 6 +NX_P49662 377 43262 5.69 0 Endoplasmic reticulum membrane;Secreted;Cytosol;Inflammasome;Cell membrane;Mitochondrion NA PE1 11 +NX_P49674 416 47315 9.68 0 Cytosol;Cytoplasm;Nucleus NA PE1 22 +NX_P49675 285 31914 9.17 0 Mitochondrion Adrenal hyperplasia 1 PE1 8 +NX_P49682 368 40660 7.92 7 Cell membrane NA PE1 X +NX_P49683 370 41121 9.43 7 Cell membrane NA PE1 10 +NX_P49685 360 40787 9.01 7 Cell membrane NA PE1 3 +NX_P49703 201 22156 9.94 0 Nucleolus;Golgi apparatus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus NA PE1 17 +NX_P49711 727 82785 6.51 0 Nucleoplasm;Centromere;Chromosome Mental retardation, autosomal dominant 21 PE1 16 +NX_P49715 358 37561 7.27 0 Cytoplasmic vesicle;Nucleoplasm;Nucleolus;Nucleus Leukemia, acute myelogenous PE1 19 +NX_P49716 269 28467 8.44 0 Nucleoplasm;Nucleus NA PE1 8 +NX_P49720 205 22949 6.14 0 Mitochondrion;Cytoplasm;Nucleus NA PE1 17 +NX_P49721 201 22836 6.52 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_P49736 904 101896 5.34 0 Nucleoplasm;Nucleus Deafness, autosomal dominant, 70 PE1 3 +NX_P49746 956 104201 4.43 0 Cytoplasmic vesicle NA PE1 1 +NX_P49747 757 82860 4.36 0 Golgi apparatus;Extracellular matrix Pseudoachondroplasia;Multiple epiphyseal dysplasia 1 PE1 19 +NX_P49748 655 70390 8.92 0 Mitochondrion;Mitochondrion inner membrane;Nucleolus;Nucleus Acyl-CoA dehydrogenase very long-chain deficiency PE1 17 +NX_P49750 2146 241645 6.12 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 14 +NX_P49753 483 53218 8.7 0 Mitochondrion NA PE1 14 +NX_P49754 854 98566 5.56 0 Late endosome;Lysosome;Endosome membrane;trans-Golgi network;Early endosome;Clathrin-coated vesicle NA PE1 7 +NX_P49755 219 24976 6.98 1 Endoplasmic reticulum membrane;trans-Golgi network membrane;Golgi apparatus;Cell membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Melanosome;Secretory vesicle membrane NA PE1 14 +NX_P49756 843 100185 6.06 0 Cytoplasm;Nucleus speckle NA PE1 14 +NX_P49757 651 70804 8.79 0 Cytosol;Cell junction;Membrane NA PE1 14 +NX_P49758 472 54423 7.05 0 Cytosol;Cytoplasm;Nucleus;Cell membrane;Membrane NA PE1 14 +NX_P49759 484 57291 9.05 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE1 2 +NX_P49760 499 60090 9.69 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 1 +NX_P49761 638 73515 9.94 0 Nucleus speckle;Acrosome;Nucleoplasm;Cytoplasm;Nucleus;Cytoskeleton NA PE1 15 +NX_P49763 221 24789 8.52 0 Mitochondrion;Cytosol;Nucleoplasm;Secreted NA PE1 14 +NX_P49765 207 21602 8.46 0 Secreted NA PE1 11 +NX_P49767 419 46883 7.77 0 Secreted Lymphedema, hereditary, 1D PE1 4 +NX_P49768 467 52668 5.18 9 Endoplasmic reticulum membrane;Golgi apparatus;Cell membrane;Cytoplasmic granule;Nucleus;Golgi apparatus membrane;Cell junction Frontotemporal dementia;Acne inversa, familial, 3;Cardiomyopathy, dilated 1U;Alzheimer disease 3 PE1 14 +NX_P49770 351 38990 5.77 0 Nucleoplasm;Focal adhesion;Cell membrane Leukodystrophy with vanishing white matter PE1 14 +NX_P49771 235 26416 7.6 1 Cell membrane;Secreted NA PE1 19 +NX_P49773 126 13802 6.43 0 Cytosol;Cytoplasm;Nucleus;Cell membrane Neuromyotonia and axonal neuropathy, autosomal recessive PE1 5 +NX_P49788 294 33285 8.74 1 Endoplasmic reticulum;Golgi apparatus;Membrane NA PE1 3 +NX_P49789 147 16858 6.54 0 Mitochondrion;Cytoplasm;Nucleolus;Nucleus;Cell membrane NA PE1 3 +NX_P49790 1475 153938 8.97 0 Nuclear pore complex;Nucleus;Nucleus membrane NA PE1 6 +NX_P49792 3224 358199 5.86 0 Nuclear pore complex;Nucleus;Nucleus envelope;Nucleus membrane Encephalopathy, acute, infection-induced, 3 PE1 2 +NX_P49795 217 24636 5.43 0 Nucleolus;Cell junction;Membrane NA PE1 20 +NX_P49796 1198 132336 5.9 0 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Mitochondrion NA PE1 9 +NX_P49798 205 23256 8.69 0 Cytoskeleton Schizophrenia PE1 1 +NX_P49802 495 57668 8.33 0 Cytosol;Cytoplasm;Cell membrane;Membrane NA PE1 1 +NX_P49810 448 50140 4.51 8 Endoplasmic reticulum membrane;Golgi apparatus membrane Alzheimer disease 4;Cardiomyopathy, dilated 1V PE1 1 +NX_P49815 1807 200608 6.98 0 Cytosol;Cytoplasm;Membrane Tuberous sclerosis 2;Focal cortical dysplasia 2;Lymphangioleiomyomatosis PE1 16 +NX_P49821 464 50817 8.51 0 Mitochondrion;Cytosol;Mitochondrion inner membrane Mitochondrial complex I deficiency;Leigh syndrome PE1 11 +NX_P49840 483 50981 8.95 0 Cytosol NA PE1 19 +NX_P49841 420 46744 8.98 0 Cytoplasm;Nucleus;Cell membrane NA PE1 3 +NX_P49842 368 40916 9.8 0 Nucleus speckle;Nucleus NA PE1 6 +NX_P49848 677 72668 8.83 0 Cytosol;Nucleoplasm;Nucleus Alazami-Yuan syndrome PE1 7 +NX_P49862 253 27525 8.82 0 Nucleus membrane;Cell membrane;Secreted NA PE1 19 +NX_P49863 264 28882 9.48 0 Cytoplasmic granule;Secreted NA PE1 5 +NX_P49888 294 35126 6.18 0 Cytosol;Cytoplasm;Nucleus membrane NA PE1 4 +NX_P49895 249 28924 8.9 1 Endoplasmic reticulum membrane NA PE1 1 +NX_P49901 116 12767 8.49 0 Cytoplasm;Mitochondrion membrane NA PE1 1 +NX_P49902 561 64970 5.75 0 Cytoplasm Spastic paraplegia 45, autosomal recessive PE1 10 +NX_P49903 392 42911 5.65 0 Nucleoplasm;Cytoplasm;Cell membrane;Nucleus membrane NA PE1 10 +NX_P49908 381 43174 8.08 0 Nucleus;Golgi apparatus;Secreted NA PE1 5 +NX_P49910 485 55771 6.74 0 Nucleus speckle;Cytoskeleton;Nucleus NA PE1 6 +NX_P49913 170 19301 9.48 0 Secreted NA PE1 3 +NX_P49914 203 23256 7.71 0 Cytosol;Cytoplasm NA PE1 15 +NX_P49915 693 76715 6.42 0 Cytosol;Cytoplasm NA PE1 3 +NX_P49916 1009 112907 9.17 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 17 +NX_P49917 911 103971 8.17 0 Nucleoplasm;Cytosol;Nucleus LIG4 syndrome;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation PE1 13 +NX_P49918 316 32177 5.39 0 Cytosol;Nucleoplasm;Nucleus Beckwith-Wiedemann syndrome;Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies PE1 11 +NX_P49959 708 80593 5.61 0 Nucleoplasm;Nucleus;Chromosome;Telomere Ataxia-telangiectasia-like disorder 1 PE1 11 +NX_P49961 510 57965 5.93 2 Cytoskeleton;Membrane Spastic paraplegia 64, autosomal recessive PE1 10 +NX_P50052 363 41184 9.31 7 Cell membrane NA PE1 X +NX_P50053 298 32523 5.91 0 Cytosol Fructosuria PE1 2 +NX_P50120 134 15707 5.27 0 Cytoplasm;Golgi apparatus NA PE1 3 +NX_P50135 292 33295 5.18 0 Cytoplasm Mental retardation, autosomal recessive 51 PE1 2 +NX_P50148 359 42142 5.48 0 Nucleus speckle;Nucleus membrane;Cytosol;Cell membrane;Nucleus;Membrane Sturge-Weber syndrome;Capillary malformations, congenital PE1 9 +NX_P50150 75 8389 6.55 0 Cell membrane NA PE1 1 +NX_P50151 68 7205 7.71 0 Cell membrane NA PE1 9 +NX_P50213 366 39592 6.46 0 Mitochondrion NA PE1 15 +NX_P50219 401 40569 7.27 0 Cytosol;Nucleolus;Nucleus Currarino syndrome PE1 7 +NX_P50221 254 27997 7.79 0 Mitochondrion;Cytoplasm;Nucleolus;Nucleus Klippel-Feil syndrome 2, autosomal recessive PE1 17 +NX_P50222 304 33594 7.87 0 Nucleus speckle;Nucleus NA PE1 7 +NX_P50225 295 34165 6.16 0 Cytoplasm NA PE1 16 +NX_P50226 295 34310 7.75 0 Cytoplasm NA PE1 16 +NX_P50238 77 8533 9.05 0 Cytosol;Nucleus speckle;Centrosome NA PE1 14 +NX_P50281 582 65894 7.63 1 Cytosol;Cytoplasm;Cytoskeleton;Melanosome;Membrane Winchester syndrome PE1 14 +NX_P50336 477 50765 8.43 0 Cytosol;Mitochondrion;Mitochondrion inner membrane Variegate porphyria PE1 1 +NX_P50391 375 42195 8.46 7 Cell membrane NA PE2 10 +NX_P50395 445 50663 6.11 0 Cytoplasm;Membrane NA PE1 10 +NX_P50402 254 28994 5.29 1 Endoplasmic reticulum;Nucleus inner membrane;Nucleus envelope;Nucleus membrane;Nucleus outer membrane Emery-Dreifuss muscular dystrophy 1, X-linked PE1 X +NX_P50406 440 46954 9.27 7 Cell membrane NA PE1 1 +NX_P50416 773 88368 8.85 2 Mitochondrion;Mitochondrion outer membrane Carnitine palmitoyltransferase 1A deficiency PE1 11 +NX_P50440 423 48455 8.26 0 Mitochondrion;Cytoplasm;Mitochondrion inner membrane Cerebral creatine deficiency syndrome 3 PE1 15 +NX_P50443 739 81662 8.67 8 Cytoplasmic vesicle;Cell membrane Achondrogenesis 1B;Multiple epiphyseal dysplasia 4;Atelosteogenesis 2;Diastrophic dysplasia PE1 5 +NX_P50452 374 42767 5.41 0 Cytosol;Cytoplasm;Nucleus Peeling skin syndrome 5 PE1 18 +NX_P50453 376 42404 5.61 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 6 +NX_P50454 418 46441 8.75 0 Endoplasmic reticulum lumen;Endoplasmic reticulum Osteogenesis imperfecta 10 PE1 11 +NX_P50458 406 44373 8.81 0 Nucleoplasm;Nucleus NA PE1 9 +NX_P50461 194 20969 8.89 0 Sarcomere;Cytoplasm;Cytoskeleton;Nucleus;Z line Cardiomyopathy, familial hypertrophic 12;Cardiomyopathy, dilated 1M PE1 11 +NX_P50479 330 35398 8.07 0 Synaptosome;Cytosol;Cytoplasm;Early endosome membrane;Perinuclear region;Nucleus;Dendritic spine;Lamellipodium;Cytoskeleton;Recycling endosome membrane NA PE1 5 +NX_P50502 369 41332 5.18 0 Cytoplasm NA PE1 22 +NX_P50539 228 26062 6.57 0 Nucleolus;Nucleus Prostate cancer PE1 10 +NX_P50542 639 70865 4.43 0 Cytosol;Cytoplasm;Peroxisome membrane;Golgi apparatus Peroxisome biogenesis disorder 2A;Peroxisome biogenesis disorder 2B;Rhizomelic chondrodysplasia punctata 5 PE1 12 +NX_P50548 548 58703 6.85 0 Nucleoplasm;Nucleus Chitayat syndrome;Craniosynostosis 4 PE1 19 +NX_P50549 477 55131 5.7 0 Nucleoplasm;Nucleus Ewing sarcoma PE1 7 +NX_P50552 380 39830 9.05 0 Cytoplasm;Cell membrane;Focal adhesion;Lamellipodium membrane;Filopodium membrane;Cytoskeleton;Cell junction;Tight junction NA PE1 19 +NX_P50553 236 25454 8.93 0 Nucleus NA PE1 12 +NX_P50570 870 98064 7.04 0 Synapse;Phagocytic cup;Golgi apparatus;Cytosol;Cytoplasm;Clathrin-coated pit;Cell junction;Phagosome membrane;Postsynaptic density;Cytoskeleton;Midbody Lethal congenital contracture syndrome 5;Charcot-Marie-Tooth disease 2M;Charcot-Marie-Tooth disease, dominant, intermediate type, B;Myopathy, centronuclear, 1 PE1 19 +NX_P50579 478 52892 5.57 0 Cytosol;Cytoplasm;Cell membrane NA PE1 12 +NX_P50583 147 16829 5.23 0 Nucleoplasm NA PE1 9 +NX_P50591 281 32509 7.01 1 Cytoskeleton;Cell membrane;Secreted NA PE1 3 +NX_P50607 506 55651 8.88 0 Nucleolus;Secreted;Cytoplasm;Cell membrane;Microtubule organizing center;Nucleus;Centrosome Retinal dystrophy and obesity PE1 11 +NX_P50613 346 39038 8.66 0 Cytoplasm;Perinuclear region;Nucleus NA PE1 5 +NX_P50616 345 38155 6.45 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus NA PE1 17 +NX_P50747 726 80760 5.4 0 Mitochondrion;Cytoplasm;Cytosol Holocarboxylase synthetase deficiency PE1 21 +NX_P50748 2209 250749 5.67 0 Kinetochore;Cytosol;Cytoplasm;Cell membrane;Nucleus;Spindle NA PE1 12 +NX_P50749 326 37790 8.93 0 Kinetochore;Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus NA PE1 20 +NX_P50750 372 42778 8.97 0 Nucleoplasm;PML body;Nucleus;Cytosol;Cytoplasm NA PE1 9 +NX_P50851 2863 319108 5.39 1 Golgi apparatus;Lysosome;Cytosol;Endoplasmic reticulum;Cell membrane;trans-Golgi network Immunodeficiency, common variable, 8, with autoimmunity PE1 4 +NX_P50876 292 32890 5.91 1 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Cell membrane NA PE1 2 +NX_P50895 628 67405 5.53 1 Nucleolus;Membrane NA PE1 19 +NX_P50897 306 34193 6.07 0 Secreted;Lysosome Ceroid lipofuscinosis, neuronal, 1 PE1 1 +NX_P50914 215 23432 10.94 0 Cytoplasm NA PE1 3 +NX_P50990 548 59621 5.42 0 Cytosol;Cytoplasm;Nucleus;Cytoskeleton;Centrosome;Cilium basal body NA PE1 21 +NX_P50991 539 57924 7.96 0 Melanosome;Cytosol;Cytoplasm;Nucleoplasm;Centrosome;Cilium basal body NA PE1 2 +NX_P50993 1020 112265 5.47 10 Cell membrane;Membrane Alternating hemiplegia of childhood 1;Migraine, familial hemiplegic, 2 PE1 1 +NX_P50995 505 54390 7.53 0 Melanosome;Nucleoplasm;Cytoplasm;Nucleus envelope;Cytosol;Spindle Amyotrophic lateral sclerosis 23 PE1 10 +NX_P51003 745 82843 6.96 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 14 +NX_P51114 621 69721 5.84 0 Cytosol;Cytoplasm NA PE1 3 +NX_P51116 673 74223 5.95 0 Cytosol;Cytoplasm NA PE1 17 +NX_P51124 257 27545 10.16 0 Cytoplasmic granule;Secreted NA PE1 19 +NX_P51148 216 23483 8.64 0 Endosome;Early endosome membrane;Melanosome;Cell membrane NA PE1 17 +NX_P51149 207 23490 6.39 0 Autophagosome membrane;Lysosome membrane;Lysosome;Lipid droplet;Endosome membrane;Late endosome membrane;Melanosome membrane;Phagosome membrane Charcot-Marie-Tooth disease 2B PE1 3 +NX_P51151 201 22838 5.26 0 Endoplasmic reticulum membrane;Late endosome;Melanosome;Cytosol;Cell membrane;Nucleoplasm;Golgi apparatus membrane;Phagosome;Phagosome membrane;Cytoplasmic vesicle membrane NA PE1 X +NX_P51153 203 22774 9.27 0 trans-Golgi network membrane;Cytosol;Cell membrane;Lamellipodium;Cytoplasmic vesicle membrane;Recycling endosome membrane;Tight junction NA PE1 1 +NX_P51157 221 24841 5.7 0 Cell membrane;Cilium basal body Cone-rod dystrophy 18 PE1 4 +NX_P51159 221 24868 5.09 0 Lysosome;Melanosome;Late endosome;Membrane Griscelli syndrome 2 PE1 15 +NX_P51160 858 99147 5.5 0 Cell membrane Achromatopsia 5;Cone dystrophy 4 PE1 10 +NX_P51161 128 14371 6.29 0 Cytoplasm;Membrane NA PE1 5 +NX_P51164 291 33367 6.98 1 Cell membrane NA PE1 13 +NX_P51168 640 72659 5.89 2 Cytoplasmic vesicle membrane;Apical cell membrane Pseudohypoaldosteronism 1, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 1;Liddle syndrome PE1 16 +NX_P51170 649 74270 7.47 2 Nucleoplasm;Apical cell membrane;Cell membrane Liddle syndrome;Bronchiectasis with or without elevated sweat chloride 3 PE1 16 +NX_P51172 638 70215 8.06 2 Cytoskeleton;Cell membrane NA PE1 1 +NX_P51178 756 85665 6.23 0 Cytoskeleton Nail disorder, non-syndromic congenital, 3 PE1 3 +NX_P51397 102 11165 9.3 0 Cytoplasm NA PE1 5 +NX_P51398 398 45566 9.02 0 Mitochondrion;Nucleoplasm NA PE1 1 +NX_P51449 518 58195 8.88 0 Nucleus Immunodeficiency 42 PE1 1 +NX_P51451 505 57706 7.98 0 Nucleoplasm;Cell membrane Maturity-onset diabetes of the young 11 PE1 8 +NX_P51452 185 20478 7.66 0 Cytosol;Nucleoplasm;Nucleus NA PE1 17 +NX_P51460 131 14502 9.18 0 Secreted Cryptorchidism PE1 19 +NX_P51504 273 31224 9.04 0 Nucleus NA PE2 3 +NX_P51508 661 75960 8.96 0 Nucleus NA PE1 X +NX_P51511 669 75807 7.03 1 Nucleoplasm;Cytosol;Cell membrane;Membrane NA PE1 16 +NX_P51512 607 69521 8.72 1 Cytosol;Cell surface;Cytoplasmic vesicle;Cell membrane;Extracellular matrix NA PE1 8 +NX_P51513 510 52056 8.93 0 Nucleolus;Nucleus NA PE1 14 +NX_P51522 516 59710 9.38 0 Nucleoplasm;Nucleus NA PE1 19 +NX_P51523 738 85457 9.05 0 Nucleoplasm;Nucleus NA PE1 12 +NX_P51530 1060 120415 7.95 0 Mitochondrion;Nucleus Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6;Seckel syndrome 8 PE1 10 +NX_P51531 1590 181279 6.76 0 Nucleoplasm;Cytoplasmic vesicle;Cytoskeleton;Nucleus Schizophrenia;Nicolaides-Baraitser syndrome PE1 9 +NX_P51532 1647 184646 7.83 0 Nucleoplasm;Nucleus Coffin-Siris syndrome 4;Rhabdoid tumor predisposition syndrome 2 PE1 19 +NX_P51553 393 42794 8.75 0 Mitochondrion NA PE1 X +NX_P51570 392 42272 6.04 0 Cytosol;Golgi apparatus Galactosemia II PE1 17 +NX_P51571 173 18999 5.76 1 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1Y PE1 X +NX_P51572 246 27992 8.44 3 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum Deafness, dystonia, and cerebral hypomyelination PE1 X +NX_P51575 399 44980 8.75 2 Membrane NA PE1 17 +NX_P51580 245 28180 5.85 0 Cytoplasm NA PE1 6 +NX_P51582 365 40963 8.92 7 Cell membrane NA PE1 X +NX_P51587 3418 384202 6.29 0 Nucleoplasm;Cytosol;Nucleus;Centrosome Glioma 3;Pancreatic cancer 2;Breast cancer;Fanconi anemia complementation group D1;Breast-ovarian cancer, familial, 2 PE1 13 +NX_P51589 502 57611 8.76 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 1 +NX_P51606 427 48831 5.95 0 Cytoplasm;Nucleus NA PE1 X +NX_P51608 486 52441 9.95 0 Nucleus Mental retardation, X-linked, syndromic, 13;Encephalopathy, neonatal severe, due to MECP2 mutations;Angelman syndrome;Autism, X-linked 3;Mental retardation, X-linked, syndromic, Lubs type;Rett syndrome PE1 X +NX_P51610 2035 208732 7.32 0 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus Mental retardation, X-linked 3 PE1 X +NX_P51617 712 76537 6.18 0 Mitochondrion;Cytoplasm;Lipid droplet;Nucleus;Cytosol NA PE1 X +NX_P51636 162 18291 5.06 0 Golgi apparatus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Caveola;Golgi apparatus membrane NA PE1 7 +NX_P51648 485 54848 7.98 1 Endoplasmic reticulum membrane;Microsome membrane Sjoegren-Larsson syndrome PE1 17 +NX_P51649 535 57215 8.62 0 Mitochondrion Succinic semialdehyde dehydrogenase deficiency PE1 6 +NX_P51654 580 65563 5.96 0 Cell membrane Simpson-Golabi-Behmel syndrome 1 PE1 X +NX_P51659 736 79686 8.96 0 Peroxisome D-bifunctional protein deficiency;Perrault syndrome 1 PE1 5 +NX_P51665 324 37025 6.29 0 Nucleoplasm NA PE1 16 +NX_P51668 147 16602 6.94 0 Cytoplasm NA PE1 10 +NX_P51671 97 10732 9.98 0 Secreted NA PE1 17 +NX_P51674 278 31210 5.17 4 Axon;Filopodium;Dendritic spine;Cell membrane NA PE1 4 +NX_P51677 355 41044 8.49 7 Cell membrane NA PE1 3 +NX_P51679 360 41403 7.47 7 Cell membrane NA PE1 3 +NX_P51681 352 40524 9.21 7 Cell membrane Diabetes mellitus, insulin-dependent, 22 PE1 3 +NX_P51684 374 42494 9.23 7 Cell surface;Cell membrane NA PE1 6 +NX_P51685 355 40844 8.66 7 Cell membrane NA PE1 3 +NX_P51686 369 42016 8.54 7 Cell membrane NA PE1 3 +NX_P51687 545 60283 5.72 0 Mitochondrion intermembrane space Sulfite oxidase deficiency, isolated PE1 12 +NX_P51688 502 56695 6.46 0 Lysosome Mucopolysaccharidosis 3A PE1 17 +NX_P51689 593 64860 6.78 0 Cytoplasmic vesicle;Lipid droplet;Lysosome NA PE1 X +NX_P51690 589 65669 6.48 0 Golgi stack;Golgi apparatus Chondrodysplasia punctata 1, X-linked recessive PE1 X +NX_P51692 787 89866 5.71 0 Cytoplasm;Nucleus Growth hormone insensitivity with immunodeficiency PE1 17 +NX_P51693 650 72176 5.54 1 Cytoplasm;Cell membrane NA PE1 19 +NX_P51784 963 109817 5.28 0 Nucleoplasm;Cytoplasm;Nucleus;Chromosome NA PE1 X +NX_P51786 506 58291 8.83 0 Nucleus NA PE1 X +NX_P51787 676 74699 9.88 6 Basolateral cell membrane;Cell membrane;Endoplasmic reticulum;Early endosome;Cytoplasmic vesicle membrane;Membrane raft Jervell and Lange-Nielsen syndrome 1;Short QT syndrome 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Diabetes mellitus, non-insulin-dependent PE1 11 +NX_P51788 898 98535 8.7 10 Cytosol;Cell membrane Epilepsy, idiopathic generalized 11;Juvenile myoclonic epilepsy 8;Juvenile absence epilepsy 2;Leukoencephalopathy with ataxia PE1 3 +NX_P51790 818 90966 5.88 10 Cytosol;Early endosome membrane;Endoplasmic reticulum;Late endosome membrane;Golgi apparatus membrane;Secretory vesicle membrane NA PE1 4 +NX_P51793 760 84917 6.43 10 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Early endosome membrane;Late endosome membrane Mental retardation, X-linked 49 PE1 X +NX_P51795 746 83147 6.37 10 Endosome membrane;Cytosol;Golgi apparatus membrane;Golgi apparatus;Cell membrane Nephrolithiasis 1;Nephrolithiasis 2;Hypophosphatemic rickets, X-linked recessive;Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis PE1 X +NX_P51797 869 97289 6.39 10 Cytosol;Endosome membrane;Cell membrane NA PE1 1 +NX_P51798 805 88679 8.66 10 Nucleoplasm;Lysosome membrane Osteopetrosis, autosomal recessive 2;Osteopetrosis, autosomal recessive 4;Osteopetrosis, autosomal dominant 2 PE1 16 +NX_P51800 687 75285 7.62 10 Membrane Bartter syndrome 4B, neonatal, with sensorineural deafness PE1 1 +NX_P51801 687 75446 8.2 11 Cell membrane Bartter syndrome 3;Bartter syndrome 4B, neonatal, with sensorineural deafness PE1 1 +NX_P51805 1871 207703 7.06 1 Cytoplasmic vesicle;Cell junction;Cell membrane NA PE1 X +NX_P51808 116 13062 5.37 0 Kinetochore;Cytoskeleton;Nucleus NA PE1 X +NX_P51809 220 24935 8.86 1 Endoplasmic reticulum membrane;Synaptosome;Lysosome membrane;trans-Golgi network membrane;Cytoplasmic vesicle;Late endosome membrane;Phagosome membrane;Secretory vesicle membrane NA PE1 X +NX_P51810 404 43878 7.53 7 Lysosome membrane;Apical cell membrane;Melanosome membrane Albinism ocular 1;Nystagmus congenital X-linked 6 PE1 X +NX_P51811 444 50902 8.6 10 Mitochondrion;Nucleoplasm;Cytoplasmic vesicle;Membrane McLeod syndrome PE1 X +NX_P51812 740 83736 6.41 0 Cytosol;Cytoplasm;Nucleolus;Nucleus Mental retardation, X-linked 19;Coffin-Lowry syndrome PE1 X +NX_P51813 675 78011 8.7 0 Nucleoplasm;Cytoplasm;Cell membrane NA PE1 X +NX_P51814 821 93728 9.06 0 Nucleoplasm;Nucleus NA PE1 X +NX_P51815 510 59298 9.35 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE2 X +NX_P51816 1311 144771 8.23 0 Nucleus speckle Mental retardation, X-linked, associated with fragile site FRAXE PE1 X +NX_P51817 358 40896 6.37 0 Cytoplasm;Nucleus NA PE1 X +NX_P51825 1210 131422 9.26 0 Mitochondrion;Nucleoplasm;Nucleus NA PE1 4 +NX_P51826 1226 133503 8.35 0 Nucleoplasm;Cytosol;Nucleus NA PE1 2 +NX_P51828 1080 120308 8.49 12 Cytosol;Membrane NA PE1 16 +NX_P51841 1108 124850 6.87 1 Membrane NA PE1 X +NX_P51843 470 51718 8.47 0 Cytoplasmic vesicle;Nucleus speckle;Cytoplasm;Nucleus;Microtubule organizing center 46,XY sex reversal 2;Adrenal hypoplasia, congenital PE1 X +NX_P51854 596 65333 5.56 0 Cytoplasm;Nucleus NA PE1 X +NX_P51857 326 37377 7.14 0 Nucleoplasm;Cytosol;Cytoplasm Congenital bile acid synthesis defect 2 PE1 7 +NX_P51858 240 26788 4.7 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_P51861 262 31279 4.35 0 Nucleoplasm;Centrosome;Golgi apparatus NA PE1 X +NX_P51864 188 21181 8.2 0 Cell membrane NA PE5 X +NX_P51878 434 49736 9.28 0 NA NA PE1 11 +NX_P51884 338 38429 6.16 0 Extracellular matrix NA PE1 12 +NX_P51888 382 43810 9.47 0 Extracellular matrix NA PE1 1 +NX_P51911 297 33170 9.14 0 Cytoskeleton NA PE1 19 +NX_P51946 323 37643 6.73 0 Nucleoplasm;Nucleus NA PE1 5 +NX_P51948 309 35823 5.79 0 Nucleoplasm;Nucleus NA PE1 14 +NX_P51955 445 51763 9.03 0 Kinetochore;Nucleolus;Cytoplasm;Spindle pole;Nucleus;Centromere;Centrosome Retinitis pigmentosa 67 PE1 1 +NX_P51956 506 57705 6.72 0 Axon;Cytoplasm;Cytoskeleton NA PE1 13 +NX_P51957 841 94597 8.04 0 Cytosol;Cytoplasm;Cilium NA PE1 3 +NX_P51959 295 34074 9.06 0 Nucleoplasm;Nucleus NA PE1 5 +NX_P51965 193 21404 8.77 0 Nucleoplasm;Nucleus NA PE1 3 +NX_P51970 172 20105 7.58 0 Mitochondrion;Mitochondrion inner membrane;Mitochondrion intermembrane space NA PE1 9 +NX_P51991 378 39595 9.1 0 Nucleus NA PE1 2 +NX_P51993 359 41860 8.92 1 Golgi stack membrane;Golgi apparatus NA PE1 19 +NX_P52179 1685 187627 6.5 0 M line NA PE1 18 +NX_P52198 227 25369 8.66 0 Acrosome membrane NA PE1 17 +NX_P52209 483 53140 6.8 0 Cytosol;Cytoplasm;Cytoskeleton NA PE1 1 +NX_P52272 730 77516 8.84 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 19 +NX_P52292 529 57862 5.25 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 17 +NX_P52294 538 60222 4.94 0 Cytosol;Cytoplasm;Nucleus NA PE1 3 +NX_P52298 156 18001 8.34 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 3 +NX_P52306 607 66317 5.17 0 Cytosol NA PE1 4 +NX_P52333 1124 125099 6.77 0 Cytoplasm;Endomembrane system Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative PE1 19 +NX_P52429 567 63927 8.02 2 Cytosol;Cytoplasm;Nucleus;Membrane Hemolytic uremic syndrome atypical 7;Nephrotic syndrome 7 PE1 17 +NX_P52434 150 17143 4.5 0 Nucleolus;Nucleus NA PE1 3 +NX_P52435 117 13293 5.63 0 Nucleus NA PE1 7 +NX_P52564 334 37492 7.01 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA PE1 17 +NX_P52565 204 23207 5.03 0 Cytosol;Cytoplasm Nephrotic syndrome 8 PE1 17 +NX_P52566 201 22988 5.1 0 Cytosol NA PE1 12 +NX_P52569 658 71673 7.01 14 Cell junction;Cell membrane NA PE1 8 +NX_P52594 562 58260 8.82 0 Cytoplasmic vesicle;Nucleus NA PE1 2 +NX_P52597 415 45672 5.38 0 Nucleoplasm NA PE1 10 +NX_P52630 851 97916 5.34 0 Cytosol;Cytoplasm;Nucleus;Cell membrane Immunodeficiency 44 PE1 12 +NX_P52655 376 41514 4.4 0 Cytosol;Nucleoplasm;Nucleus NA PE1 14 +NX_P52657 109 12457 6.26 0 Nucleoplasm;Nucleus NA PE1 15 +NX_P52701 1360 152786 6.5 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Golgi apparatus;Chromosome Endometrial cancer;Hereditary non-polyposis colorectal cancer 5;Colorectal cancer;Mismatch repair cancer syndrome PE1 2 +NX_P52732 1056 119159 5.47 0 Cytosol;Cytoplasm;Spindle;Spindle pole Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation PE1 10 +NX_P52735 878 101289 6.67 0 Cytoplasmic vesicle NA PE1 9 +NX_P52736 654 73388 9.26 0 Cytoplasmic vesicle;Nucleus NA PE1 20 +NX_P52737 540 62784 9.32 0 Nucleolus;Nucleus NA PE1 19 +NX_P52738 457 52996 8.95 0 Nucleus NA PE1 12 +NX_P52739 623 71422 5.1 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 5 +NX_P52740 706 80623 8.77 0 Cytoplasmic vesicle;Cytoskeleton;Nucleus NA PE1 19 +NX_P52741 427 48480 8.96 0 Nucleoplasm;Nucleus NA PE1 19 +NX_P52742 658 75261 8.49 0 Cytosol;Nucleus NA PE1 19 +NX_P52743 207 24115 9.77 0 Nucleus NA PE5 19 +NX_P52744 262 30592 9.63 0 Cytosol;Nucleus NA PE1 7 +NX_P52746 1687 187880 8.24 0 Nucleolus;Nucleus NA PE1 2 +NX_P52747 638 68896 5.64 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 11 +NX_P52756 815 92154 5.94 0 Nucleoplasm;Nucleus NA PE1 3 +NX_P52757 468 53924 7.04 0 Nucleus;Membrane NA PE1 7 +NX_P52758 137 14494 8.73 0 Mitochondrion;Cytoplasm;Nucleus;Peroxisome NA PE1 8 +NX_P52788 366 41268 4.87 0 Cytosol;Cytoplasm;Nucleus X-linked syndromic mental retardation Snyder-Robinson type PE1 X +NX_P52789 917 102380 5.71 0 Mitochondrion;Mitochondrion outer membrane NA PE1 2 +NX_P52790 923 99025 5.23 0 NA NA PE1 5 +NX_P52797 238 26350 8.85 0 Cell membrane NA PE1 1 +NX_P52798 201 22386 6.89 0 Cytoplasmic vesicle;Nucleus;Cell membrane;Secreted NA PE1 1 +NX_P52799 333 36923 9.04 1 Cytosol;Nucleoplasm;Cell membrane NA PE1 13 +NX_P52803 228 26297 5.97 0 Caveola;Cytoplasmic vesicle;Cytosol;Cell membrane NA PE1 5 +NX_P52815 198 21348 9.05 0 Mitochondrion NA PE1 17 +NX_P52823 247 27621 8.28 0 Secreted NA PE1 8 +NX_P52824 942 101155 7.35 0 Nucleus speckle;Cytoskeleton;Nucleus;Cell membrane;Cytoplasm NA PE1 4 +NX_P52848 882 100868 8.07 1 Golgi apparatus membrane Mental retardation, autosomal recessive 46 PE1 5 +NX_P52849 883 100875 8.81 1 Cytosol;Golgi apparatus membrane NA PE1 10 +NX_P52888 689 78840 5.72 0 Cytosol;Cytoplasm NA PE1 19 +NX_P52895 323 36735 7.13 0 Cytoplasm 46,XY sex reversal 8 PE1 10 +NX_P52907 286 32923 5.45 0 Cytoplasm;Cytoskeleton NA PE1 1 +NX_P52926 109 11832 10.63 0 Nucleolus;Nucleus NA PE1 12 +NX_P52943 208 22493 9.01 0 Nucleolus;Nucleus;Cell membrane NA PE1 14 +NX_P52945 283 30771 7.1 0 Nucleoplasm;Cytosol;Nucleus Maturity-onset diabetes of the young 4;Pancreatic agenesis 1;Diabetes mellitus, non-insulin-dependent PE1 13 +NX_P52948 1817 197579 5.97 0 Cytoplasmic vesicle;Nucleoplasm;Nuclear pore complex;Nucleus membrane NA PE1 11 +NX_P52951 348 37348 8.43 0 Nucleoplasm;Nucleus NA PE1 2 +NX_P52952 324 34918 9.46 0 Cytosol;Nucleoplasm;Nucleus Conotruncal heart malformations;Ventricular septal defect 3;Atrial septal defect 7, with or without atrioventricular conduction defects;Hypoplastic left heart syndrome 2;Tetralogy of Fallot;Hypothyroidism, congenital, non-goitrous, 5 PE1 5 +NX_P52954 281 30221 6.47 0 Nucleoplasm;Nucleus NA PE1 10 +NX_P52961 327 36335 8.53 0 Sarcoplasmic reticulum membrane NA PE2 11 +NX_P53004 296 33428 6.06 0 Cytosol;Cytoplasm Hyperbiliverdinemia PE1 7 +NX_P53007 311 34013 9.91 6 Mitochondrion inner membrane Combined D-2- and L-2-hydroxyglutaric aciduria PE1 22 +NX_P53041 499 56879 5.88 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Cell membrane NA PE1 19 +NX_P53350 603 68255 9.09 0 Kinetochore;Spindle;Nucleus;Centrosome;Midbody NA PE1 16 +NX_P53355 1430 160046 6.37 0 Cytoplasm;Cytoskeleton;Centrosome NA PE1 9 +NX_P53365 341 37856 5.72 0 Nucleolus;Nucleus;Golgi apparatus NA PE1 11 +NX_P53367 373 41738 6.24 0 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA PE1 4 +NX_P53370 316 35679 8.15 0 Mitochondrion;Cytoplasm;Cytoskeleton;Nucleus NA PE1 4 +NX_P53384 320 34534 5.15 0 Cytosol;Cytoplasm;Microtubule organizing center;Centriole;Nucleus;Cilium axoneme;Cell projection;Centrosome;Cilium basal body NA PE1 16 +NX_P53396 1101 120839 6.95 0 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm NA PE1 17 +NX_P53420 1690 164038 8.9 0 Basement membrane Hematuria, benign familial;Alport syndrome, autosomal recessive PE1 2 +NX_P53539 338 35928 4.78 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_P53567 150 16408 9.77 0 Nucleoplasm;Nucleus NA PE1 19 +NX_P53582 386 43215 6.75 0 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm NA PE1 4 +NX_P53597 346 36250 9.01 0 Mitochondrion;Cell membrane Mitochondrial DNA depletion syndrome 9 PE1 2 +NX_P53602 400 43405 6.8 0 Cytosol;Cell junction Porokeratosis 7, multiple types PE1 16 +NX_P53609 377 42368 6.37 0 Nucleoplasm;Cytosol;Endoplasmic reticulum NA PE1 5 +NX_P53611 331 36924 4.89 0 Cytoplasmic vesicle NA PE1 1 +NX_P53618 953 107142 5.72 0 Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;COPI-coated vesicle membrane;Golgi apparatus membrane NA PE1 11 +NX_P53621 1224 138346 7.7 0 Cytosol;Golgi apparatus;Secreted;COPI-coated vesicle membrane;Cytoplasm;Nucleoplasm;Golgi apparatus membrane Autoimmune interstitial lung, joint, and kidney disease PE1 1 +NX_P53634 463 51854 6.53 0 Cytoplasmic vesicle;Endoplasmic reticulum;Lysosome Papillon-Lefevre syndrome;Haim-Munk syndrome;Periodontititis, aggressive, 1 PE1 11 +NX_P53667 647 72585 6.53 0 Cytosol;Nucleus speckle;Lamellipodium;Nucleus;Cytoplasm NA PE1 7 +NX_P53671 638 72232 6.83 0 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Nucleoplasm NA PE1 22 +NX_P53672 197 22096 5.94 0 NA Cataract 42 PE1 2 +NX_P53673 196 22374 5.83 0 NA Cataract 23, multiple types PE1 22 +NX_P53674 252 28023 8.59 0 NA Cataract 17, multiple types PE1 22 +NX_P53675 1640 187030 5.57 0 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Coated pit NA PE1 22 +NX_P53677 418 46977 7.15 0 Cytoplasmic vesicle membrane;Golgi apparatus NA PE1 8 +NX_P53680 142 17018 5.82 0 Coated pit;Cell membrane Hypocalciuric hypercalcemia, familial 3 PE1 19 +NX_P53701 268 30602 6.25 0 Mitochondrion;Mitochondrion inner membrane;Membrane Linear skin defects with multiple congenital anomalies 1 PE1 X +NX_P53708 1063 117474 5.37 1 Cell membrane;Membrane Renal hypodysplasia/aplasia 1 PE1 10 +NX_P53778 367 41940 5.98 0 Mitochondrion;Cytoplasm;Nucleus;Cytosol;Nucleus speckle NA PE1 22 +NX_P53779 464 52585 6.33 0 Mitochondrion;Cytoplasm;Nucleus;Membrane NA PE1 4 +NX_P53794 718 79694 7.01 12 Cytosol;Cell membrane;Membrane NA PE1 21 +NX_P53801 180 20324 9.14 1 Golgi apparatus;Nucleus membrane;Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;Membrane NA PE1 21 +NX_P53803 58 7004 9.27 0 Cytosol;Nucleolus;Nucleus NA PE1 8 +NX_P53804 2025 229869 7.53 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 21 +NX_P53805 252 28079 5.09 0 Cytosol NA PE1 21 +NX_P53814 917 99059 9.2 0 Nucleoplasm;Cytoskeleton NA PE1 22 +NX_P53816 162 17937 7.76 1 Cytoplasm;Perinuclear region;Peroxisome membrane;Membrane NA PE1 11 +NX_P53985 500 53944 8.91 12 Cell junction;Cell membrane Symptomatic deficiency in lactate transport;Familial hyperinsulinemic hypoglycemia 7;Monocarboxylate transporter 1 deficiency PE1 1 +NX_P53990 364 39751 5.22 0 Cytoplasmic vesicle;Centrosome;Nucleus envelope;Midbody NA PE1 16 +NX_P53992 1094 118325 6.71 0 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Golgi apparatus;Cytosol;Cytoplasm;Cytoplasmic vesicle NA PE1 10 +NX_P53999 127 14395 9.6 0 Nucleolus;Nucleus NA PE1 5 +NX_P54098 1239 139562 6.46 0 Mitochondrion nucleoid;Mitochondrion Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1;Spinocerebellar ataxia with epilepsy;Leigh syndrome;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1;Mitochondrial DNA depletion syndrome 4B;Mitochondrial DNA depletion syndrome 4A;Sensory ataxic neuropathy dysarthria and ophthalmoparesis PE1 15 +NX_P54105 237 26215 3.97 0 Cytosol;Cytoskeleton;Nucleus NA PE1 11 +NX_P54107 249 28481 5.57 0 NA NA PE1 6 +NX_P54108 245 27630 8.09 0 Secreted NA PE1 6 +NX_P54132 1417 159000 7.33 0 Cytosol;Nucleus Bloom syndrome PE1 15 +NX_P54136 660 75379 6.26 0 Nucleoplasm;Cytoplasm;Cytosol Leukodystrophy, hypomyelinating, 9 PE1 5 +NX_P54198 1017 111835 8.4 0 Nucleoplasm;PML body;Nucleus NA PE1 22 +NX_P54219 525 56257 5.6 12 Endoplasmic reticulum membrane;Synaptic vesicle membrane;Cytoplasmic vesicle membrane NA PE1 8 +NX_P54252 361 41250 4.69 0 Nucleus;Nucleolus;Nucleus matrix;Cell membrane Spinocerebellar ataxia 3 PE1 14 +NX_P54253 815 86923 8.49 0 Cytosol;Cytoplasm;Nucleolus;Nucleus Spinocerebellar ataxia 1 PE1 6 +NX_P54257 671 75506 4.68 0 Lysosome;Cytoplasm;Endoplasmic reticulum;Axon;Nucleus;Autophagosome;Mitochondrion;Cytoskeleton;Synaptic vesicle NA PE1 17 +NX_P54259 1190 125414 9.01 0 Nucleoplasm;Perinuclear region;Nucleus;Cell junction Dentatorubral-pallidoluysian atrophy PE1 12 +NX_P54274 439 50246 5.99 0 Spindle;Nucleolus;Nucleus;Telomere NA PE1 8 +NX_P54277 932 105830 6.23 0 Nucleoplasm;Nucleus NA PE1 2 +NX_P54278 862 95797 6.4 0 Nucleus Hereditary non-polyposis colorectal cancer 4;Mismatch repair cancer syndrome PE1 7 +NX_P54284 484 54532 5.93 0 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus NA PE1 12 +NX_P54289 1103 124568 5.12 1 Cytoplasm;Membrane NA PE1 7 +NX_P54296 1465 164896 5.82 0 Mitochondrion;M line NA PE1 8 +NX_P54315 467 51848 5.47 0 Secreted NA PE1 10 +NX_P54317 469 51961 5.27 0 Secreted NA PE1 10 +NX_P54368 228 25406 7.12 0 Cytoplasmic vesicle;Microtubule organizing center NA PE1 19 +NX_P54577 528 59143 6.61 0 Cytosol;Cytoplasm Charcot-Marie-Tooth disease, dominant, intermediate type, C PE1 1 +NX_P54578 494 56069 5.2 0 Cytosol;Cytoplasm;Cell membrane NA PE1 18 +NX_P54619 331 37579 6.42 0 Cytosol;Nucleoplasm;Nucleus NA PE1 12 +NX_P54646 552 62320 7.65 0 Cytoplasm;Nucleus;Golgi apparatus;Nucleus speckle NA PE1 1 +NX_P54652 639 70021 5.56 0 Spindle NA PE1 14 +NX_P54687 386 42966 5.17 0 Cytoplasm NA PE1 12 +NX_P54707 1039 115511 6.12 10 Membrane NA PE1 13 +NX_P54709 279 31513 8.58 1 Melanosome;Cell membrane NA PE1 3 +NX_P54710 66 7283 7.88 1 Mitochondrion;Membrane Hypomagnesemia 2 PE1 11 +NX_P54725 363 39609 4.56 0 Cytosol;Nucleoplasm;Nucleus NA PE1 19 +NX_P54727 409 43171 4.79 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 9 +NX_P54750 535 61252 5.72 0 Nucleoplasm;Cytoplasm NA PE1 2 +NX_P54753 998 110330 5.95 1 Dendrite;Cell membrane NA PE1 3 +NX_P54756 1037 114803 6.53 1 Axon;Dendrite;Cell membrane;Endoplasmic reticulum NA PE1 4 +NX_P54760 987 108270 6.48 1 Cell membrane Hydrops fetalis, non-immune, and/or atrial septal defect PE1 7 +NX_P54762 984 109885 6.03 1 Cytosol;Dendrite;Early endosome membrane;Endoplasmic reticulum;Cell membrane NA PE1 3 +NX_P54764 986 109860 6.21 1 Axon;Postsynaptic density;Dendrite;Cell membrane;Early endosome NA PE1 2 +NX_P54792 670 73254 6.02 0 Cytoplasm NA PE5 22 +NX_P54793 590 65940 6.78 0 Cytosol;Secreted NA PE1 X +NX_P54802 743 82266 6.2 0 Lysosome Charcot-Marie-Tooth disease 2V;Mucopolysaccharidosis 3B PE1 17 +NX_P54803 685 77063 6.17 0 Lysosome Leukodystrophy, globoid cell PE1 14 +NX_P54819 239 26478 7.67 0 Mitochondrion intermembrane space Reticular dysgenesis PE1 1 +NX_P54821 245 27296 9.48 0 Nucleoplasm;Nucleus Agnathia-otocephaly complex PE1 1 +NX_P54826 345 35693 5.35 0 Nucleus speckle;Cell membrane NA PE1 9 +NX_P54829 565 63538 4.82 2 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 11 +NX_P54840 703 80989 6.35 0 NA Glycogen storage disease 0 PE1 12 +NX_P54845 237 25940 7.73 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Retinal degeneration autosomal recessive clumped pigment type;Retinitis pigmentosa 27 PE1 14 +NX_P54849 157 17563 8.18 4 Nucleoplasm;Membrane NA PE1 12 +NX_P54851 167 19199 7.55 4 Apical cell membrane;Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Golgi apparatus membrane;Membrane raft Nephrotic syndrome 10 PE1 16 +NX_P54852 163 18429 8.18 4 Golgi apparatus;Cell membrane;Membrane NA PE1 19 +NX_P54855 530 61036 8.98 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 4 +NX_P54868 508 56635 8.4 0 Mitochondrion 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency PE1 1 +NX_P54886 795 87302 6.66 0 Mitochondrion;Mitochondrion inner membrane Cutis laxa, autosomal recessive, 3A;Cutis laxa, autosomal dominant, 3;Spastic paraplegia 9B, autosomal recessive;Spastic paraplegia 9A, autosomal dominant PE1 10 +NX_P54920 295 33233 5.23 0 Cell membrane NA PE1 19 +NX_P54922 357 39507 6.05 0 Nucleus;Nucleus membrane NA PE1 3 +NX_P55000 103 11186 5.21 0 Secreted Mal de Meleda PE1 8 +NX_P55001 183 20826 4.86 0 Extracellular matrix NA PE1 1 +NX_P55008 147 16703 5.97 0 Cytosol;Cytoskeleton;Phagocytic cup;Ruffle membrane NA PE1 6 +NX_P55010 431 49223 5.41 0 Cytosol;Cell membrane NA PE1 14 +NX_P55011 1212 131447 5.98 12 Cytoplasmic vesicle;Cell membrane;Membrane NA PE1 5 +NX_P55017 1021 113139 8.1 12 Cell membrane Gitelman syndrome PE1 16 +NX_P55036 377 40737 4.68 0 NA NA PE1 1 +NX_P55039 364 40746 9.02 0 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Cytoplasm NA PE1 17 +NX_P55040 296 33949 8.77 0 Cell membrane NA PE1 8 +NX_P55042 308 33245 9.06 0 Nucleoplasm;Cell membrane;Golgi apparatus NA PE1 16 +NX_P55055 460 50974 7.9 0 Nucleoplasm;Nucleus NA PE1 19 +NX_P55056 127 14553 9.19 0 Secreted NA PE1 19 +NX_P55058 493 54739 6.53 0 Secreted NA PE1 20 +NX_P55060 971 110417 5.51 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 20 +NX_P55061 237 26538 8.79 6 Endoplasmic reticulum membrane NA PE1 12 +NX_P55064 265 28292 8.82 6 Apical cell membrane;Cell membrane Keratoderma, palmoplantar, Bothnian type PE1 12 +NX_P55072 806 89322 5.14 0 Cytosol;Nucleoplasm;Stress granule;Nucleus;Endoplasmic reticulum Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1;Charcot-Marie-Tooth disease 2Y;Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia PE1 9 +NX_P55073 304 33947 6.25 1 Endosome membrane;Cell membrane NA PE1 14 +NX_P55075 233 26525 10.44 0 Secreted Hypogonadotropic hypogonadism 6 with or without anosmia PE1 10 +NX_P55081 439 51958 4.95 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA PE1 15 +NX_P55082 362 40165 4.87 1 Nucleoplasm;Golgi apparatus;Cell membrane NA PE1 5 +NX_P55083 255 28648 5.38 0 Endoplasmic reticulum;Extracellular matrix NA PE1 17 +NX_P55084 474 51294 9.45 0 Mitochondrion;Mitochondrion inner membrane;Endoplasmic reticulum;Mitochondrion outer membrane Mitochondrial trifunctional protein deficiency PE1 2 +NX_P55085 397 44126 9.66 7 Cell membrane NA PE1 5 +NX_P55087 323 34830 7.59 6 Cell junction;Cell membrane;Membrane NA PE1 18 +NX_P55089 124 13458 11.7 0 Endoplasmic reticulum;Secreted NA PE1 2 +NX_P55103 352 38238 6.66 0 Secreted NA PE1 12 +NX_P55107 478 53122 9.58 0 Secreted NA PE1 10 +NX_P55145 182 20700 8.94 0 Sarcoplasmic reticulum lumen;Endoplasmic reticulum lumen;Endoplasmic reticulum;Secreted NA PE1 3 +NX_P55157 894 99351 8.61 0 Cytosol;Endoplasmic reticulum Abetalipoproteinemia PE1 4 +NX_P55160 1127 128153 6.39 1 Cytosol;Cytoplasm;Cell membrane NA PE1 12 +NX_P55196 1824 206804 6.06 0 Nucleoplasm;Cytoplasm;Cell junction;Cell membrane;Adherens junction NA PE1 6 +NX_P55197 1068 113320 8.49 0 Nucleoplasm;Nucleus NA PE1 10 +NX_P55198 1093 112048 8.93 0 Nucleus NA PE1 17 +NX_P55199 621 68265 9.43 0 Nucleus speckle;Nucleus;Cajal body NA PE1 19 +NX_P55201 1214 137499 8.16 0 Cytosol;Cytoplasm;Nucleus;Cell membrane Intellectual developmental disorder with dysmorphic facies and ptosis PE1 3 +NX_P55209 391 45374 4.36 0 Cytoplasm;Cytoskeleton;Nucleus;Melanosome NA PE1 12 +NX_P55210 303 34277 5.72 0 Cytoplasm NA PE1 10 +NX_P55211 416 46281 5.73 0 Mitochondrion NA PE1 1 +NX_P55212 293 33310 6.46 0 Cytosol;Cytoplasm;Nucleus NA PE1 4 +NX_P55259 537 59480 5.08 0 Cell membrane;Secreted NA PE1 16 +NX_P55263 362 40545 6.24 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Hypermethioninemia due to adenosine kinase deficiency PE1 10 +NX_P55265 1226 136066 8.86 0 Cytoplasm;Nucleolus;Nucleus Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria PE1 1 +NX_P55268 1798 195981 6.07 0 Cytosol;Cytoplasmic vesicle;Basement membrane Pierson syndrome;Nephrotic syndrome 5 with or without ocular abnormalities PE1 3 +NX_P55273 166 17700 5.69 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 19 +NX_P55283 916 100281 4.65 1 Cell membrane NA PE1 20 +NX_P55285 790 88309 4.77 1 Cell membrane NA PE1 5 +NX_P55286 799 88253 4.55 1 Cell membrane NA PE1 16 +NX_P55287 796 87965 4.75 1 Cell membrane Elsahy-Waters syndrome PE1 16 +NX_P55289 794 88332 4.64 1 Cytoplasmic vesicle;Cell membrane NA PE1 5 +NX_P55290 713 78287 4.8 0 Cell membrane NA PE1 16 +NX_P55291 814 88916 4.81 1 Cytosol;Golgi apparatus;Cell membrane Mental retardation, autosomal dominant 3 PE1 16 +NX_P55316 489 52352 8.99 0 Nucleus Rett syndrome congenital variant PE1 14 +NX_P55317 472 49148 8.93 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 14 +NX_P55318 350 37140 7.01 0 Nucleoplasm;Nucleus NA PE1 19 +NX_P55327 224 24327 4.79 0 Cytosol;Golgi apparatus NA PE1 8 +NX_P55344 173 19674 9.64 4 Membrane Cataract, multiple types 19 PE1 19 +NX_P55345 433 49042 5.03 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Cytosol NA PE1 21 +NX_P55347 436 47607 4.79 0 Nucleoplasm;Nucleus NA PE1 21 +NX_P55735 322 35541 5.22 0 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Lysosome membrane;Nucleoplasm;Cytoplasm;Nuclear pore complex;Endoplasmic reticulum;Cytoplasmic vesicle NA PE1 3 +NX_P55769 128 14174 8.72 0 Nucleolus;Nucleus NA PE1 22 +NX_P55771 341 36310 9.39 0 Nucleoplasm;Mitochondrion;Nucleus Tooth agenesis, selective, 3 PE1 14 +NX_P55773 120 13411 9.21 0 Secreted NA PE1 17 +NX_P55774 89 9849 9.06 0 Secreted NA PE1 17 +NX_P55786 919 103276 5.49 0 Cytosol;Cytoplasm;Nucleus NA PE1 17 +NX_P55789 205 23449 7.57 0 Mitochondrion;Cytoplasm;Mitochondrion intermembrane space;Cytosol;Secreted Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay PE1 16 +NX_P55795 449 49264 5.89 0 Nucleoplasm Mental retardation, X-linked, syndromic, Bain type PE1 X +NX_P55808 180 19723 6.95 1 Cell membrane NA PE1 X +NX_P55809 520 56158 7.13 0 Mitochondrion;Mitochondrion matrix Succinyl-CoA:3-oxoacid CoA transferase deficiency PE1 5 +NX_P55822 239 26086 4.09 0 Cytosol;Cell membrane NA PE1 21 +NX_P55851 309 33229 9.74 6 Mitochondrion;Mitochondrion inner membrane NA PE1 11 +NX_P55854 103 11637 5.32 0 PML body;Nucleus;Cytoplasm NA PE1 21 +NX_P55884 814 92482 4.89 0 Cytosol;Nucleoplasm;Cytoplasm NA PE1 7 +NX_P55895 527 59241 5.56 0 Nucleoplasm;Nucleus Omenn syndrome;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive;Combined cellular and humoral immune defects with granulomas PE1 11 +NX_P55899 365 39743 6.09 1 Cell membrane NA PE1 19 +NX_P55916 312 34216 9.31 6 Cytosol;Nucleoplasm;Mitochondrion inner membrane;Cell membrane Obesity PE1 11 +NX_P55957 195 21995 5.27 0 Cytosol;Cytoplasm;Mitochondrion membrane;Mitochondrion outer membrane NA PE1 22 +NX_P56134 94 10918 9.7 1 Mitochondrion;Cytoplasm;Mitochondrion inner membrane NA PE1 7 +NX_P56159 465 51456 8.3 0 Nucleoplasm;Golgi apparatus;Cell membrane NA PE1 10 +NX_P56177 255 27320 9.71 0 Cytoplasmic vesicle;Nucleus;Cell junction NA PE1 2 +NX_P56178 289 31540 9.31 0 Nucleus Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive PE1 7 +NX_P56179 175 19708 9.95 0 Nucleus NA PE1 7 +NX_P56180 551 64322 8.81 3 Membrane NA PE1 21 +NX_P56181 108 11941 9.72 0 Mitochondrion;Mitochondrion inner membrane NA PE1 21 +NX_P56182 461 52839 9.39 0 Nucleolus NA PE1 21 +NX_P56192 900 101116 5.82 0 Cytosol Charcot-Marie-Tooth disease 2U;Interstitial lung and liver disease PE1 12 +NX_P56199 1179 130848 5.91 1 Membrane NA PE1 5 +NX_P56202 376 42120 7.14 0 NA NA PE1 11 +NX_P56211 112 12323 9.07 0 Cytoplasm NA PE1 15 +NX_P56270 477 48608 9.21 0 Nucleus NA PE1 16 +NX_P56277 68 7747 8.5 0 Mitochondrion;Cytoplasm;Nucleus NA PE1 X +NX_P56278 107 12600 5.07 0 Nucleoplasm;Cell membrane NA PE1 X +NX_P56279 114 13460 4.98 0 Cytoplasm;Nucleus;Microsome;Endoplasmic reticulum NA PE1 14 +NX_P56282 527 59537 5.95 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 14 +NX_P56373 397 44289 7.88 2 Cell membrane NA PE1 11 +NX_P56377 157 18615 5.39 0 Cytoplasmic vesicle membrane;Clathrin-coated pit;Golgi apparatus Pettigrew syndrome PE1 X +NX_P56378 58 6662 10.08 1 Mitochondrion;Cytoplasm;Nucleolus;Mitochondrion membrane NA PE1 14 +NX_P56381 51 5780 9.93 0 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex V deficiency, nuclear type 3 PE1 20 +NX_P56385 69 7933 9.34 0 Mitochondrion;Mitochondrion inner membrane NA PE1 4 +NX_P56470 323 35941 9.21 0 Cell membrane NA PE1 19 +NX_P56524 1084 119040 6.49 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Brachydactyly-mental retardation syndrome PE1 2 +NX_P56537 245 26599 4.56 0 Nucleoplasm;Cytoplasm;Nucleolus NA PE1 20 +NX_P56539 151 17259 5.5 0 Caveola;Cytoplasmic vesicle;Golgi apparatus membrane;Cell membrane;Sarcolemma Sudden infant death syndrome;Rippling muscle disease 2;Cardiomyopathy, familial hypertrophic;Limb-girdle muscular dystrophy 1C;Long QT syndrome 9;HyperCKmia;Myopathy, distal, Tateyama type PE1 3 +NX_P56545 445 48945 6.47 0 Cytosol;Synapse;Nucleus NA PE1 10 +NX_P56555 118 12955 7.76 0 NA NA PE2 21 +NX_P56556 128 15137 9.98 0 Mitochondrion inner membrane NA PE1 22 +NX_P56557 158 17936 5.23 4 Endoplasmic reticulum membrane;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA PE1 21 +NX_P56559 192 21487 9.17 0 Cytosol;Cytoplasm;Filopodium;Cell membrane NA PE1 2 +NX_P56589 373 42140 8.37 2 Nucleoplasm;Peroxisome membrane;Peroxisome Peroxisome biogenesis disorder 10B;Peroxisome biogenesis disorder complementation group 12;Peroxisome biogenesis disorder 10A PE1 6 +NX_P56597 212 24236 5.89 0 Nucleoplasm;Nucleus NA PE1 5 +NX_P56645 1201 131888 6.44 0 Cytosol;Cytoplasm;Nucleus Advanced sleep phase syndrome, familial, 3 PE1 1 +NX_P56693 466 49911 6.19 0 Nucleoplasm;Cytoplasm;Nucleus;Mitochondrion outer membrane Waardenburg syndrome 2E;Waardenburg syndrome 4C;Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease PE1 22 +NX_P56696 695 77101 9.6 6 Basal cell membrane Deafness, autosomal dominant, 2A PE1 1 +NX_P56703 355 39645 7.47 0 Extracellular matrix;Secreted Tetraamelia syndrome 1 PE1 17 +NX_P56704 352 39365 8.52 0 Extracellular matrix;Secreted NA PE1 1 +NX_P56705 351 39052 8.92 0 Cytoplasmic vesicle;Extracellular matrix Mullerian aplasia and hyperandrogenism;46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs PE1 1 +NX_P56706 349 39327 9.11 0 Extracellular matrix;Secreted NA PE1 22 +NX_P56715 2156 240661 5.55 0 Photoreceptor outer segment;Cilium axoneme Retinitis pigmentosa 1 PE1 8 +NX_P56730 875 97067 8.41 0 Cytoskeleton;Nucleus;Secreted Mental retardation, autosomal recessive 1 PE1 4 +NX_P56746 228 24356 5.61 4 Cell membrane;Tight junction NA PE1 7 +NX_P56747 220 23292 8.32 4 Cell membrane;Tight junction NA PE1 16 +NX_P56748 225 24845 9 4 Tight junction;Cell membrane NA PE1 21 +NX_P56749 244 27110 8.8 4 Cell membrane;Tight junction NA PE1 7 +NX_P56750 224 24603 9.8 4 Tight junction;Cell membrane NA PE1 21 +NX_P56817 501 55764 5.31 1 Endosome;Late endosome;Recycling endosome;Lysosome;Endoplasmic reticulum;Cell membrane;trans-Golgi network;Early endosome;Cell surface;Cytoplasmic vesicle membrane;Membrane raft NA PE1 11 +NX_P56851 147 17584 6.51 0 Secreted NA PE1 14 +NX_P56856 261 27856 8.39 4 Cell membrane;Tight junction NA PE1 3 +NX_P56880 219 23515 6.98 4 Cell membrane;Tight junction NA PE2 6 +NX_P56915 257 28150 8.86 0 Nucleus Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities PE1 14 +NX_P56937 341 38206 8.35 1 Cell membrane NA PE1 1 +NX_P56945 870 93372 5.41 0 Cytosol;Cytoplasm;Focal adhesion;Cell membrane NA PE1 16 +NX_P56962 302 33403 6.14 2 Endoplasmic reticulum membrane;Autophagosome membrane;COPII-coated vesicle membrane;Nucleolus;Cytosol;Smooth endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 9 +NX_P56975 720 77901 7.79 1 Cytoplasmic vesicle;Cell membrane;Secreted NA PE1 10 +NX_P57052 281 32179 8.87 0 Nucleoplasm;Nucleus speckle NA PE1 21 +NX_P57053 126 13944 10.37 0 Nucleus;Chromosome NA PE1 21 +NX_P57054 158 18089 8.8 2 Cytoplasmic vesicle;Membrane Epileptic encephalopathy, early infantile, 55 PE1 21 +NX_P57055 190 20368 5.98 0 Nucleus NA PE2 21 +NX_P57057 533 57648 8.61 12 Endoplasmic reticulum membrane NA PE1 21 +NX_P57058 714 79686 9.24 0 Nucleoplasm;Cell membrane NA PE1 21 +NX_P57059 783 84902 6.81 0 Cytosol;Cytoplasm;Nucleus Epileptic encephalopathy, early infantile, 30 PE1 21 +NX_P57060 319 36332 5.61 0 NA NA PE1 21 +NX_P57071 1507 169269 8.59 0 Nucleoplasm;Nucleus NA PE1 21 +NX_P57073 446 47314 6.49 0 Nucleus NA PE1 16 +NX_P57075 661 74123 7.77 0 Nucleoplasm;Cytoplasm;Nucleus;Golgi apparatus NA PE1 21 +NX_P57076 290 33224 6.99 0 Cytoplasm;Cilium basal body Ciliary dyskinesia, primary, 26 PE1 21 +NX_P57077 242 27248 4.81 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 21 +NX_P57078 832 91611 6.69 0 Cytoplasm;Membrane Popliteal pterygium syndrome, lethal type PE1 21 +NX_P57081 412 45490 6.71 0 Cytosol;Nucleus NA PE1 21 +NX_P57082 545 60204 7.34 0 Cytoplasmic vesicle;Nucleus Ischiocoxopodopatellar syndrome PE1 17 +NX_P57086 179 19082 9.73 0 Cytosol;Cytoskeleton;Nucleus NA PE1 20 +NX_P57087 298 33207 9.23 1 Nucleoplasm;Tight junction;Cell membrane NA PE1 21 +NX_P57088 247 27978 9.76 3 Endoplasmic reticulum membrane;Melanosome;Nucleus envelope NA PE1 4 +NX_P57103 927 103010 5.01 11 Endoplasmic reticulum membrane;Perikaryon;Sarcolemma;Sarcoplasm;Cell membrane;Mitochondrion outer membrane;Dendrite;Perinuclear region;Dendritic spine;Cell junction NA PE1 14 +NX_P57105 145 15928 5.86 1 Mitochondrion;Mitochondrion outer membrane NA PE1 14 +NX_P57678 1058 120037 5.7 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Gem Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities PE1 17 +NX_P57679 992 111990 6.29 1 Cytosol;Nucleoplasm;Cell membrane;Cilium membrane;Cilium;Cilium basal body Ellis-van Creveld syndrome;Acrofacial dysostosis, Weyers type PE1 4 +NX_P57682 345 38829 9.44 0 Nucleoplasm;Nucleus NA PE1 4 +NX_P57721 371 39465 8.22 0 Cytoplasm NA PE1 21 +NX_P57723 403 41482 8.42 0 Cytosol;Cytoplasm NA PE1 3 +NX_P57727 454 49405 5.95 1 Endoplasmic reticulum membrane Deafness, autosomal recessive, 8 PE1 21 +NX_P57729 211 23712 7.65 0 Melanosome;Cell membrane;Mitochondrion;Nucleus;Phagosome;Melanosome membrane;Phagosome membrane NA PE1 11 +NX_P57730 90 10138 6.27 0 NA NA PE1 11 +NX_P57735 213 23496 5.72 0 Cytosol;Cytoplasmic vesicle;Pseudopodium membrane;Cell junction;Cell membrane NA PE1 1 +NX_P57737 925 100605 5.51 0 Cytoplasmic vesicle;Cytosol;Golgi apparatus membrane;trans-Golgi network NA PE1 16 +NX_P57738 103 11341 5.51 2 Cytosol;Membrane NA PE1 3 +NX_P57739 230 24549 8.47 4 Nucleoplasm;Cell membrane;Cell junction;Tight junction NA PE1 X +NX_P57740 925 106374 5.28 0 Nucleoplasm;Kinetochore;Nuclear pore complex;Centrosome;Nucleus membrane Ovarian dysgenesis 6;Nephrotic syndrome 11 PE1 12 +NX_P57764 484 52801 5 0 Cytosol;Nucleoplasm;Inflammasome;Cell membrane;Secreted NA PE1 8 +NX_P57768 344 39167 4.59 0 Cytoplasmic vesicle;Cytoplasm;Early endosome membrane;Late endosome membrane;Lysosome NA PE1 8 +NX_P57771 180 20917 9.36 0 Dendrite;Nucleus;Perikaryon;Cell membrane;Membrane NA PE1 1 +NX_P57772 596 65305 8.61 0 Cytosol;Cytoplasm;Nucleus NA PE1 3 +NX_P57773 515 58842 8.67 4 Gap junction;Cell membrane NA PE2 1 +NX_P57775 412 46337 7.54 0 Golgi apparatus Split-hand/foot malformation 3 PE1 10 +NX_P57789 538 59765 8.9 4 Membrane NA PE1 14 +NX_P57796 275 30433 5.27 0 Cytoplasm Cone-rod synaptic disorder, congenital non-progressive PE1 11 +NX_P58004 480 54494 5.57 0 Cytosol;Cytoplasm NA PE1 1 +NX_P58005 492 57291 5.84 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 11 +NX_P58012 376 38772 9.26 0 Cytoskeleton;Nucleus Premature ovarian failure 3;Blepharophimosis, ptosis, and epicanthus inversus syndrome PE1 3 +NX_P58062 85 9232 7.52 0 Secreted NA PE1 5 +NX_P58107 5088 555658 5.45 0 Basolateral cell membrane;Apicolateral cell membrane;Hemidesmosome;Cytoskeleton;Cell projection;Cell junction;Tight junction NA PE1 8 +NX_P58166 350 38561 9.49 0 Cytoplasmic vesicle;Secreted NA PE1 12 +NX_P58170 312 35424 8.76 7 Cell membrane NA PE2 17 +NX_P58173 313 35414 8.64 7 Cell membrane NA PE2 6 +NX_P58180 307 34958 9.1 7 Cell membrane NA PE2 17 +NX_P58181 314 35535 8.87 7 Cell membrane NA PE2 11 +NX_P58182 307 34813 8.79 7 Cell membrane NA PE2 6 +NX_P58215 753 83166 6.4 0 Extracellular space;Nucleus;Cytoplasm NA PE1 2 +NX_P58294 105 11715 9.01 0 Secreted NA PE1 1 +NX_P58304 361 39411 7.11 0 Nucleus Microphthalmia, isolated, with coloboma, 3;Microphthalmia, isolated, 2;Microphthalmia with cataracts and iris abnormalities PE1 14 +NX_P58317 390 44694 8.37 0 Nucleoplasm;Nucleolus;Nucleus;Centrosome NA PE1 19 +NX_P58335 489 53666 7.42 1 Endoplasmic reticulum membrane;Cell membrane;Secreted Hyaline fibromatosis syndrome PE1 4 +NX_P58340 268 30627 9.46 0 Cytoplasm;Nucleus;Cilium;Cilium basal body NA PE1 3 +NX_P58397 1594 177676 8.25 0 Mitochondrion;Nucleolus;Extracellular matrix NA PE1 5 +NX_P58400 472 50424 8.19 1 Synapse;Cell membrane NA PE1 2 +NX_P58401 666 70927 5.96 1 Membrane NA PE1 11 +NX_P58417 271 31082 8.86 0 Secreted NA PE1 7 +NX_P58418 232 25719 8.8 4 Cell membrane Usher syndrome 3A;Retinitis pigmentosa 61 PE1 3 +NX_P58499 235 25982 8.97 0 Cytoplasmic vesicle;Secreted NA PE1 21 +NX_P58505 322 35003 10.06 0 Nucleoplasm;Nucleus NA PE2 21 +NX_P58511 58 6886 9.87 1 Focal adhesion;Membrane NA PE1 21 +NX_P58512 204 21308 5.95 0 NA NA PE2 21 +NX_P58513 81 9586 9.89 0 NA NA PE5 21 +NX_P58546 118 12895 5.27 0 Cytosol;Cytoplasm;Perinuclear region;Nucleus;Cell membrane NA PE1 7 +NX_P58549 80 8524 8.5 1 Membrane NA PE1 19 +NX_P58550 94 10590 6.81 1 Membrane NA PE5 X +NX_P58557 167 19298 7.06 0 Nucleoplasm;Nucleus NA PE1 21 +NX_P58658 441 49483 6.52 1 Membrane NA PE1 21 +NX_P58743 744 81264 5.91 12 Cell membrane Deafness, autosomal recessive, 61 PE2 7 +NX_P58753 221 23883 7.56 0 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Membrane;Cytoskeleton NA PE1 11 +NX_P58872 404 45245 7.25 7 Membrane NA PE1 17 +NX_P58876 126 13936 10.31 0 Nucleus;Chromosome NA PE1 6 +NX_P59020 149 16743 11.26 0 NA NA PE2 21 +NX_P59022 87 9286 5.35 0 NA NA PE5 21 +NX_P59025 263 30913 7.99 1 Cell membrane NA PE1 3 +NX_P59036 64 7298 11.56 0 NA NA PE5 21 +NX_P59037 77 8510 7.58 0 NA NA PE5 21 +NX_P59044 892 98768 8.43 0 Cytoplasm;Inflammasome;Nucleus membrane;Cell membrane NA PE1 11 +NX_P59045 1033 117779 7.98 0 Cytosol NA PE1 19 +NX_P59046 1061 120173 6.59 0 Cytoplasm Familial cold autoinflammatory syndrome 2 PE1 19 +NX_P59047 1200 134342 6.08 0 Mitochondrion;Cytoplasm;Nucleolus NA PE1 19 +NX_P59051 145 16132 12.1 0 NA NA PE5 21 +NX_P59052 145 15706 9.21 0 NA NA PE5 21 +NX_P59074 171 19069 5.17 0 NA NA PE5 14 +NX_P59089 165 18635 11.68 0 NA NA PE5 21 +NX_P59090 65 7097 9.38 0 NA NA PE5 21 +NX_P59091 139 15087 9.9 0 NA NA PE5 21 +NX_P59095 220 25022 9.36 0 NA NA PE1 18 +NX_P59103 153 18108 8.73 0 Golgi apparatus Schizophrenia PE1 13 +NX_P59190 212 24391 5.53 0 Cytoplasmic vesicle;Cell membrane;Microtubule organizing center NA PE1 14 +NX_P59282 170 18503 9.07 0 Cytoplasm NA PE1 14 +NX_P59510 1910 214721 6.98 0 Extracellular matrix NA PE2 12 +NX_P59533 333 37892 9.6 7 Membrane NA PE2 7 +NX_P59534 338 38626 9.12 7 Membrane NA PE2 7 +NX_P59535 323 36812 9.95 7 Membrane NA PE2 7 +NX_P59536 307 35896 9.98 7 Membrane NA PE2 7 +NX_P59537 309 35599 10.05 7 Cilium membrane;Membrane NA PE2 12 +NX_P59538 309 35278 10.05 7 Membrane NA PE2 12 +NX_P59539 299 34278 10.06 7 Membrane NA PE2 12 +NX_P59540 309 35523 9.79 7 Cilium membrane;Membrane NA PE2 12 +NX_P59541 319 36874 10.12 7 Membrane NA PE2 12 +NX_P59542 299 33908 9.97 7 Membrane NA PE2 12 +NX_P59543 309 35358 10.06 7 Membrane NA PE2 12 +NX_P59544 299 34558 9.83 7 Membrane NA PE2 12 +NX_P59551 318 36337 9.94 7 Membrane NA PE2 7 +NX_P59646 89 9373 7.65 1 Membrane NA PE2 10 +NX_P59665 94 10201 6.54 0 Secreted NA PE1 8 +NX_P59666 94 10245 5.71 0 Secreted NA PE1 8 +NX_P59768 71 7850 7.78 0 Cytoplasmic vesicle;Cell membrane;Golgi apparatus NA PE1 14 +NX_P59773 190 21573 7.86 1 Membrane NA PE2 5 +NX_P59780 193 22017 5.11 0 Cytoplasmic vesicle membrane;Golgi apparatus NA PE1 15 +NX_P59796 221 24971 6.21 0 Secreted NA PE2 6 +NX_P59797 346 36800 9.68 0 NA NA PE1 19 +NX_P59817 542 60816 9.03 0 Nucleoplasm;Nucleus NA PE1 22 +NX_P59826 476 50342 6.27 0 Cytoplasm;Secreted NA PE1 20 +NX_P59827 614 65055 4.95 0 Cytoplasm;Secreted NA PE1 20 +NX_P59861 70 8199 7.59 0 Secreted NA PE1 4 +NX_P59894 354 39859 9.4 0 NA NA PE2 11 +NX_P59901 499 55165 8.29 1 Cell membrane NA PE1 19 +NX_P59910 316 36118 7.68 0 Flagellum;Cell membrane Ciliary dyskinesia, primary, 34 PE1 11 +NX_P59922 312 35019 8.89 7 Cell membrane NA PE5 6 +NX_P59923 1031 118963 9.5 0 Cytosol;Mitochondrion;Nucleus NA PE1 3 +NX_P59942 119 13259 7.85 0 Mitochondrion NA PE2 6 +NX_P59990 96 9737 8.22 0 NA NA PE1 21 +NX_P59991 146 14689 8.17 0 NA NA PE1 21 +NX_P59998 168 19667 8.53 0 Nucleus;Cytoskeleton;Cell projection NA PE1 3 +NX_P60002 83 9462 8.24 0 Cytosol;Nucleus NA PE1 19 +NX_P60006 121 14281 3.47 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA PE1 11 +NX_P60008 231 25632 10.95 0 Nucleus;Chromosome NA PE1 17 +NX_P60014 251 25571 7.35 0 NA NA PE1 21 +NX_P60022 68 7420 8.96 0 Secreted;Membrane NA PE1 8 +NX_P60033 236 25809 5.09 4 Basolateral cell membrane;Cell membrane Immunodeficiency, common variable, 6 PE1 11 +NX_P60059 68 7741 10.01 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 7 +NX_P60153 205 24307 6.18 0 Secreted NA PE1 14 +NX_P60174 286 30791 5.65 0 Nucleoplasm Triosephosphate isomerase deficiency PE1 12 +NX_P60201 277 30077 8.71 4 Myelin membrane;Cell membrane Leukodystrophy, hypomyelinating, 1;Spastic paraplegia 2, X-linked PE1 X +NX_P60228 445 52221 5.71 0 Cytosol;Cytoplasm;Nucleus;PML body NA PE1 8 +NX_P60321 138 15132 9.02 0 Cytoplasm;Perinuclear region;P-body NA PE1 19 +NX_P60323 173 18844 9.17 0 Nucleolus;Golgi apparatus;Stress granule;Cytoplasm;P-body;Nucleus NA PE1 19 +NX_P60328 96 9947 8.02 0 NA NA PE1 21 +NX_P60329 112 11433 7.68 0 NA NA PE1 21 +NX_P60331 282 28660 7.77 0 NA NA PE2 21 +NX_P60368 255 25616 7.52 0 NA NA PE2 21 +NX_P60369 221 22348 7.99 0 NA NA PE2 21 +NX_P60370 271 27626 7.5 0 NA NA PE1 21 +NX_P60371 365 36791 6 0 NA NA PE2 21 +NX_P60372 401 40429 7.12 0 NA NA PE1 21 +NX_P60409 370 37372 7.38 0 NA NA PE1 21 +NX_P60410 259 26299 7.82 0 NA NA PE1 21 +NX_P60411 292 30037 7.87 0 NA NA PE1 21 +NX_P60412 298 30243 7.93 0 NA NA PE1 21 +NX_P60413 245 25107 7.94 0 NA NA PE2 21 +NX_P60468 96 9974 11.57 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 9 +NX_P60484 403 47166 5.94 0 PML body;Secreted;Cytosol;Cytoplasm;Nucleoplasm;Nucleus Glioma 2;Prostate cancer;Macrocephaly/autism syndrome;Cowden syndrome 1;Squamous cell carcinoma of the head and neck;Endometrial cancer;Lhermitte-Duclos disease PE1 10 +NX_P60507 584 65248 8.56 1 Virion;Cell membrane NA PE1 X +NX_P60508 538 59523 9.14 1 Virion;Cell membrane NA PE1 6 +NX_P60509 514 58521 7.61 1 Cell membrane NA PE2 3 +NX_P60510 307 35080 4.91 0 Cytosol;Cytoplasm;Nucleus;Centrosome;Cell membrane NA PE1 16 +NX_P60520 117 13667 7.81 0 Golgi apparatus;Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Autophagosome NA PE1 16 +NX_P60568 153 17628 7.67 0 Secreted NA PE1 4 +NX_P60602 79 8183 9.58 1 Cytoplasm;Mitochondrion inner membrane NA PE1 20 +NX_P60604 165 18566 4.62 0 NA NA PE1 21 +NX_P60606 82 9045 5.08 1 Nucleoplasm;Cell junction;Cell membrane;Membrane NA PE2 19 +NX_P60608 527 58319 8.65 0 Virion NA PE1 7 +NX_P60660 151 16930 4.56 0 NA NA PE1 12 +NX_P60673 137 14596 9.49 0 Cytoskeleton;Nucleus NA PE1 5 +NX_P60709 375 41737 5.29 0 Cytoskeleton;Nucleus Dystonia, juvenile-onset;Baraitser-Winter syndrome 1 PE1 7 +NX_P60763 192 21379 8.43 0 Cytoplasm;Cell membrane;Endomembrane system;Perinuclear region;Lamellipodium;Cytoskeleton NA PE1 17 +NX_P60827 252 27685 9.7 0 Secreted NA PE1 16 +NX_P60842 406 46154 5.32 0 Cytoplasm;Nucleus NA PE1 17 +NX_P60852 638 70049 6.63 1 Cell membrane;Extracellular matrix Oocyte maturation defect 1 PE1 11 +NX_P60866 119 13373 9.95 0 Cytosol;Cytoplasm;Endoplasmic reticulum NA PE1 8 +NX_P60880 206 23315 4.66 0 Synaptosome;Perinuclear region;Cell membrane Myasthenic syndrome, congenital, 18 PE1 20 +NX_P60891 318 34834 6.51 0 NA Deafness, X-linked, 1;ARTS syndrome;Phosphoribosylpyrophosphate synthetase superactivity;Charcot-Marie-Tooth disease, X-linked recessive, 5 PE1 X +NX_P60893 370 41995 9.75 7 Golgi apparatus;Endoplasmic reticulum;Cell membrane NA PE1 7 +NX_P60896 70 8278 3.81 0 Cytosol;Cytoplasm;Nucleus NA PE1 7 +NX_P60900 246 27399 6.35 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 14 +NX_P60903 97 11203 6.82 0 Mitochondrion;Cytoplasm NA PE1 1 +NX_P60953 191 21259 6.16 0 Spindle;Cytoskeleton;Midbody;Cell membrane;Centrosome Takenouchi-Kosaki syndrome PE1 1 +NX_P60981 165 18506 8.06 0 NA NA PE1 20 +NX_P60983 142 16713 5.19 0 NA NA PE1 14 +NX_P60985 99 11050 6.72 0 Secreted NA PE1 19 +NX_P61006 207 23668 9.15 0 Golgi apparatus;Phagosome;Midbody;Centriole;Nucleus;Cell membrane;Phagosome membrane;Recycling endosome membrane;Cilium;Cilium basal body NA PE1 19 +NX_P61009 180 20313 8.66 1 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum NA PE1 4 +NX_P61011 504 55705 8.87 0 Cytosol;Cytoplasm;Nucleolus;Nucleus speckle NA PE1 14 +NX_P61018 213 23587 5.8 0 Cell membrane NA PE1 19 +NX_P61019 212 23546 6.08 0 Endoplasmic reticulum membrane;Melanosome;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 8 +NX_P61020 215 23707 8.29 0 Melanosome;Cytoplasm;Early endosome membrane;Cell membrane;Cytoplasmic vesicle;Nucleus NA PE1 12 +NX_P61024 79 9660 8.89 0 NA NA PE1 1 +NX_P61026 200 22541 8.58 0 Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Perinuclear region;Golgi apparatus membrane;Phagosome membrane;Cytoplasmic vesicle membrane;Recycling endosome membrane;Cilium NA PE1 2 +NX_P61073 352 39746 8.46 7 Early endosome;Late endosome;Cell junction;Cell membrane;Lysosome WHIM syndrome PE1 2 +NX_P61077 147 16687 7.67 0 Endosome membrane;Cell membrane NA PE1 4 +NX_P61081 183 20900 7.57 0 Cytosol;Nucleus NA PE1 19 +NX_P61086 200 22407 5.33 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA PE1 4 +NX_P61088 152 17138 6.13 0 Cytoplasm;Nucleus NA PE1 12 +NX_P61106 215 23897 5.85 0 trans-Golgi network membrane;Cytoplasm;Early endosome membrane;Phagosome;Cytoplasmic vesicle;Nucleus;Golgi apparatus membrane;Recycling endosome NA PE1 9 +NX_P61129 1189 131670 7.31 0 Nucleoplasm;Golgi apparatus NA PE1 2 +NX_P61158 418 47371 5.61 0 Cytoplasm;Cytoskeleton;Nucleus;Cell projection NA PE1 2 +NX_P61160 394 44761 6.29 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Cell projection NA PE1 2 +NX_P61163 376 42614 6.19 0 Cytoplasm;Cytoskeleton;Cell cortex;Centrosome NA PE1 10 +NX_P61165 79 9079 5.57 2 Cytosol;Cell membrane;Endoplasmic reticulum;Membrane NA PE1 11 +NX_P61201 443 51597 5.36 0 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Nucleus NA PE1 15 +NX_P61204 181 20601 6.84 0 Perinuclear region;Golgi apparatus NA PE1 12 +NX_P61218 127 14478 4.11 0 Nucleolus;Nucleus NA PE1 22 +NX_P61221 599 67314 8.63 0 Cytosol;Mitochondrion;Cytoplasm NA PE1 4 +NX_P61224 184 20825 5.65 0 Cytosol;Cytoplasm;Nucleus;Cell junction;Cell membrane NA PE1 12 +NX_P61225 183 20504 4.73 0 Recycling endosome membrane NA PE1 3 +NX_P61236 119 13608 7.66 0 Nucleolus NA PE1 16 +NX_P61244 160 18275 5.88 0 Cytoplasmic vesicle;Dendrite;Nucleus;Golgi apparatus;Nucleoplasm Pheochromocytoma PE1 14 +NX_P61247 264 29945 9.75 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA PE1 4 +NX_P61254 145 17258 10.55 0 NA Diamond-Blackfan anemia 11 PE1 17 +NX_P61266 288 33245 5.25 1 Spindle;Nucleus;Centrosome;Membrane Generalized epilepsy with febrile seizures plus 9 PE1 16 +NX_P61278 116 12736 5.47 0 Secreted NA PE1 3 +NX_P61289 254 29506 5.69 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 17 +NX_P61296 217 23666 9.23 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 4 +NX_P61313 204 24146 11.62 0 Membrane Diamond-Blackfan anemia 12 PE1 3 +NX_P61326 146 17164 5.74 0 Cytoplasm;Nucleus;Nucleus speckle NA PE1 1 +NX_P61328 243 27399 9.98 0 Nucleoplasm;Cytosol;Nucleus Epileptic encephalopathy, early infantile, 47 PE1 3 +NX_P61353 136 15798 10.56 0 Cytosol;Cytoplasm;Nucleolus;Rough endoplasmic reticulum Diamond-Blackfan anemia 16 PE1 17 +NX_P61366 133 14722 9.62 0 Secreted NA PE1 3 +NX_P61371 349 39036 8.64 0 Nucleoplasm;Nucleus NA PE1 5 +NX_P61421 351 40329 4.89 0 Membrane NA PE1 16 +NX_P61457 104 12000 6.28 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Hyperphenylalaninemia, BH4-deficient, D PE1 10 +NX_P61513 92 10275 10.44 0 NA NA PE1 2 +NX_P61550 626 68171 8.25 1 Cell membrane NA PE1 19 +NX_P61565 698 79236 9.22 1 Virion;Cell membrane NA PE1 12 +NX_P61566 588 66585 8.23 1 Virion;Cell membrane NA PE2 22 +NX_P61567 588 66649 8.55 1 Virion;Cell membrane NA PE2 1 +NX_P61568 191 21462 6.29 0 Virion NA PE5 1 +NX_P61570 661 74892 9 1 Virion;Cell membrane NA PE3 11 +NX_P61571 104 11722 10.39 0 Cytoplasm;Nucleolus NA PE1 12 +NX_P61572 105 11828 10.22 0 Cytoplasm;Nucleolus NA PE1 19 +NX_P61573 105 11828 10.22 0 Cytoplasm;Nucleolus NA PE1 6 +NX_P61574 105 11920 10.13 0 Cytoplasm;Nucleolus NA PE1 19 +NX_P61575 105 11844 10.22 0 Cytoplasm;Nucleolus NA PE1 8 +NX_P61576 105 11735 9.95 0 Cytoplasm;Nucleolus NA PE1 5 +NX_P61578 105 11808 10 0 Cytoplasm;Nucleolus NA PE1 10 +NX_P61579 105 11828 10.22 0 Cytoplasm;Nucleolus NA PE1 11 +NX_P61580 75 8892 9.91 0 Nucleus NA PE1 5 +NX_P61581 75 8893 9.74 0 Nucleus NA PE1 22 +NX_P61582 75 8820 9.58 0 Nucleus NA PE3 1 +NX_P61583 75 8907 9.66 0 Nucleus NA PE3 3 +NX_P61586 193 21768 5.83 0 Cleavage furrow;Cell cortex;Cell membrane;Lamellipodium;Cytoskeleton;Midbody NA PE1 3 +NX_P61587 244 27368 8.78 0 Golgi apparatus membrane NA PE1 2 +NX_P61599 178 20368 4.98 0 Cytosol;Cytoplasm;Nucleus NA PE1 20 +NX_P61601 193 22245 5.23 0 NA NA PE1 8 +NX_P61604 102 10932 8.89 0 Mitochondrion matrix NA PE1 2 +NX_P61619 476 52265 8.3 10 Endoplasmic reticulum membrane;Endoplasmic reticulum Familial juvenile hyperuricemic nephropathy 4 PE1 3 +NX_P61626 148 16537 9.38 0 Nucleoplasm;Cytoskeleton;Golgi apparatus;Secreted Amyloidosis 8 PE1 12 +NX_P61647 398 44836 9.19 1 Golgi apparatus membrane;Endoplasmic reticulum NA PE1 10 +NX_P61758 197 22658 6.64 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus NA PE1 X +NX_P61764 594 67569 6.5 0 Cytosol;Nucleoplasm;Membrane Epileptic encephalopathy, early infantile, 4 PE1 9 +NX_P61769 119 13715 6.06 0 Cytosol;Cell surface;Cell membrane;Golgi apparatus;Secreted Amyloidosis 8;Immunodeficiency 43 PE1 15 +NX_P61803 113 12497 6.52 3 Cytosol;Endoplasmic reticulum membrane NA PE1 14 +NX_P61812 414 47748 8.82 0 Secreted;Extracellular matrix Loeys-Dietz syndrome 4 PE1 1 +NX_P61916 151 16570 7.57 0 Secreted;Endoplasmic reticulum;Lysosome Niemann-Pick disease C2 PE1 14 +NX_P61923 177 20198 4.69 0 COPI-coated vesicle membrane;Cytoplasm;Golgi apparatus membrane;Golgi apparatus;Cell membrane NA PE1 12 +NX_P61925 76 7989 4.45 0 NA NA PE1 8 +NX_P61927 97 11078 11.74 0 Cytoplasm;Nucleolus;Nucleus NA PE1 5 +NX_P61952 73 8481 5.47 0 Cytoplasm;Cell membrane NA PE1 7 +NX_P61956 95 10871 5.32 0 PML body;Nucleus NA PE1 17 +NX_P61960 85 9118 9.36 0 Cytoplasm;Nucleus Leukodystrophy, hypomyelinating, 14 PE1 13 +NX_P61962 342 38926 5.27 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 17 +NX_P61964 334 36588 8.54 0 Nucleoplasm;Nucleus NA PE1 9 +NX_P61966 158 18733 5.6 0 Cytoplasmic vesicle membrane;Clathrin-coated pit;Golgi apparatus Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma PE1 7 +NX_P61968 165 17994 8.75 0 Nucleoplasm;Midbody ring NA PE1 1 +NX_P61970 127 14478 5.1 0 Nucleus outer membrane;Cytosol;Nuclear pore complex;Nucleoplasm;Cytoskeleton;Nucleus inner membrane NA PE1 16 +NX_P61978 463 50976 5.39 0 Nucleoplasm;Cytoplasm;Podosome Au-Kline syndrome PE1 9 +NX_P61981 247 28303 4.8 0 Cytoplasm Epileptic encephalopathy, early infantile, 56 PE1 7 +NX_P62068 366 42442 6.39 0 Nucleolus NA PE1 4 +NX_P62070 204 23400 5.74 0 Cytosol;Nucleus;Cell membrane Ovarian cancer PE1 11 +NX_P62072 90 10333 5.89 0 Mitochondrion;Mitochondrion inner membrane NA PE1 11 +NX_P62079 268 30337 4.59 4 Cell membrane NA PE1 4 +NX_P62081 194 22127 10.09 0 Cytosol;Nucleolus;Nucleus;Centrosome;Endoplasmic reticulum Diamond-Blackfan anemia 8 PE1 2 +NX_P62136 330 37512 5.94 0 Nucleolus;Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus NA PE1 11 +NX_P62140 327 37187 5.84 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Cell membrane Noonan syndrome-like disorder with loose anagen hair 2 PE1 2 +NX_P62166 190 21879 4.71 0 Golgi apparatus;Cytoplasm;Cell membrane;Perinuclear region;Membrane;Postsynaptic density NA PE1 9 +NX_P62191 440 49185 5.87 0 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Membrane NA PE1 14 +NX_P62195 406 45626 7.11 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 17 +NX_P62241 208 24205 10.32 0 Nucleolus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleus;Membrane NA PE1 1 +NX_P62244 130 14840 10.14 0 Cytoplasm NA PE1 16 +NX_P62249 146 16445 10.21 0 Cytosol;Cytoplasm;Endoplasmic reticulum NA PE1 19 +NX_P62253 170 19509 5.2 0 Cytosol;Nucleoplasm NA PE1 17 +NX_P62256 183 20655 4.55 0 Mitochondrion NA PE1 7 +NX_P62258 255 29174 4.63 0 Cytosol;Cytoplasm;Nucleus;Melanosome NA PE1 17 +NX_P62263 151 16273 10.07 0 Cytosol;Endoplasmic reticulum NA PE1 5 +NX_P62266 143 15808 10.5 0 Cytosol;Cytoplasm;Rough endoplasmic reticulum;Endoplasmic reticulum Brachycephaly, trichomegaly, and developmental delay PE1 5 +NX_P62269 152 17719 10.99 0 Cytosol;Cytoplasm NA PE1 6 +NX_P62273 56 6677 10.16 0 Cytosol;Cytoplasm;Rough endoplasmic reticulum;Endoplasmic reticulum Diamond-Blackfan anemia 13 PE1 14 +NX_P62277 151 17222 10.53 0 Nucleolus;Endoplasmic reticulum NA PE1 11 +NX_P62280 158 18431 10.31 0 Cytosol;Nucleolus;Endoplasmic reticulum NA PE1 19 +NX_P62304 92 10804 9.46 0 Cytosol;Nucleus Hypotrichosis 11 PE1 1 +NX_P62306 86 9725 4.7 0 Cytosol;Nucleolus;Nucleus NA PE1 12 +NX_P62308 76 8496 8.98 0 Cytosol;Nucleus NA PE1 2 +NX_P62310 102 11845 4.58 0 Nucleolus;Nucleus NA PE1 3 +NX_P62312 80 9128 9.61 0 Cytoplasm;Cytoskeleton;Nucleus NA PE1 4 +NX_P62314 119 13282 11.56 0 Cytosol;Nucleus NA PE1 18 +NX_P62316 118 13527 9.92 0 Cytosol;Nucleus NA PE1 19 +NX_P62318 126 13916 10.33 0 Nucleoplasm;Cytosol;Nucleus NA PE1 22 +NX_P62324 171 19209 8.35 0 Cytosol;Nucleoplasm NA PE1 12 +NX_P62328 44 5053 5.02 0 Cytoplasmic vesicle;Nucleoplasm;Cytoskeleton;Cytosol NA PE1 X +NX_P62330 175 20082 9.04 0 Ruffle;Cleavage furrow;Cytosol;Early endosome membrane;Midbody ring;Cell membrane;Endosome membrane;Filopodium membrane;trans-Golgi network membrane;Recycling endosome membrane NA PE1 14 +NX_P62333 389 44173 7.09 0 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA PE1 14 +NX_P62341 195 22324 8.79 1 Endoplasmic reticulum membrane NA PE1 3 +NX_P62380 186 20887 9.61 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA PE1 6 +NX_P62424 266 29996 10.61 0 Cytoplasmic vesicle;Nucleolus NA PE1 9 +NX_P62487 172 19294 5.33 0 Nucleoplasm;Nucleus NA PE1 11 +NX_P62491 216 24394 6.12 0 Golgi apparatus;Cleavage furrow;Phagosome;Microtubule organizing center;Cytoplasmic vesicle;Cell membrane;Recycling endosome membrane NA PE1 15 +NX_P62495 437 49031 5.51 0 Cytoplasm NA PE1 5 +NX_P62502 163 18045 4.84 0 Secreted NA PE1 9 +NX_P62508 458 51306 6.04 0 Nucleus NA PE1 1 +NX_P62633 177 19463 8 0 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum Dystrophia myotonica 2 PE1 3 +NX_P62683 666 74000 8.86 0 Cell membrane NA PE1 12 +NX_P62684 666 74038 8.95 0 Cell membrane NA PE1 19 +NX_P62685 647 72181 8.88 0 Cell membrane NA PE1 8 +NX_P62699 121 13842 6.82 0 Cytosol;Spindle pole;Midbody;Nucleoplasm;Nucleus;Centrosome NA PE1 2 +NX_P62701 263 29598 10.16 0 Cytoplasm;Nucleolus;Nucleus NA PE1 X +NX_P62714 309 35575 5.21 0 Nucleoplasm;Cytoplasm;Nucleus;Centromere;Spindle pole NA PE1 8 +NX_P62736 377 42009 5.24 0 Cytoskeleton Aortic aneurysm, familial thoracic 6;Multisystemic smooth muscle dysfunction syndrome;Moyamoya disease 5 PE1 10 +NX_P62745 196 22123 5.1 0 Late endosome membrane;Nucleus;Cleavage furrow;Cell membrane NA PE1 2 +NX_P62750 156 17695 10.44 0 Nucleolus;Nucleus NA PE1 17 +NX_P62753 249 28681 10.85 0 Cytosol;Nucleolus;Nucleus;Endoplasmic reticulum NA PE1 9 +NX_P62760 191 22142 5.01 0 NA NA PE1 2 +NX_P62805 103 11367 11.36 0 Nucleoplasm;Nucleus;Chromosome NA PE1 12 +NX_P62807 126 13906 10.31 0 Nucleus;Chromosome NA PE1 6 +NX_P62820 205 22678 5.93 0 Melanosome;Golgi apparatus;Cytosol;Cytoplasm;Early endosome;Endoplasmic reticulum;Membrane NA PE1 2 +NX_P62826 216 24423 7.01 0 Cytosol;Melanosome;Nucleus;Nucleus envelope;Cytoplasm NA PE1 12 +NX_P62829 140 14865 10.51 0 Cytosol;Cytoplasm NA PE1 17 +NX_P62834 184 20987 6.39 0 Cytoplasm;Perinuclear region;Cell junction;Cell membrane;Early endosome NA PE1 1 +NX_P62837 147 16735 7.69 0 NA NA PE1 5 +NX_P62841 145 17040 10.39 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA PE1 19 +NX_P62847 133 15423 10.79 0 Cytosol;Nucleus;Endoplasmic reticulum Diamond-Blackfan anemia 3 PE1 10 +NX_P62851 125 13742 10.12 0 Cytosol;Cytoplasm;Endoplasmic reticulum NA PE1 11 +NX_P62854 115 13015 11.01 0 Cytosol;Cytoplasm;Rough endoplasmic reticulum Diamond-Blackfan anemia 10 PE1 12 +NX_P62857 69 7841 10.7 0 Cytosol;Cytoplasm;Rough endoplasmic reticulum Diamond-Blackfan anemia 15, with mandibulofacial dysostosis PE1 19 +NX_P62861 59 6648 12.15 0 Cytosol;Nucleolus;Nucleus;Endoplasmic reticulum NA PE1 11 +NX_P62873 340 37377 5.6 0 NA Mental retardation, autosomal dominant 42 PE1 1 +NX_P62875 67 7645 7.65 0 Nucleus NA PE1 11 +NX_P62877 108 12274 6.49 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 22 +NX_P62879 340 37331 5.6 0 Perinuclear region NA PE1 7 +NX_P62888 115 12784 9.65 0 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum NA PE1 8 +NX_P62891 51 6407 12.55 0 NA NA PE1 X +NX_P62899 125 14463 10.54 0 NA NA PE1 2 +NX_P62906 217 24831 9.94 0 Cytosol;Nucleolus;Endoplasmic reticulum NA PE1 6 +NX_P62910 135 15860 11.32 0 Cytosol;Cytoplasm;Endoplasmic reticulum NA PE1 3 +NX_P62913 178 20252 9.64 0 Cytoplasmic vesicle;Cytoplasm;Nucleolus Diamond-Blackfan anemia 7 PE1 1 +NX_P62917 257 28025 11.04 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA PE1 8 +NX_P62937 165 18012 7.68 0 Cytoplasm;Secreted NA PE1 7 +NX_P62942 108 11951 7.89 0 Cytosol;Sarcoplasmic reticulum membrane NA PE1 20 +NX_P62945 25 3456 12.96 0 Cytoplasm;Nucleolus;Nucleus NA PE1 12 +NX_P62952 87 9876 6.21 2 Nucleolus;Membrane NA PE1 20 +NX_P62955 275 31003 6.65 4 Cell membrane NA PE1 19 +NX_P62979 156 17965 9.68 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA PE1 2 +NX_P62987 128 14728 9.87 0 Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Cytosol;Nucleus;Cell membrane NA PE1 19 +NX_P62993 217 25206 5.89 0 Cytoplasm;Endosome;Nucleus;Golgi apparatus NA PE1 17 +NX_P62995 288 33666 11.25 0 Nucleoplasm;Nucleus NA PE1 3 +NX_P63000 192 21450 8.77 0 Nucleolus;Melanosome;Cytosol;Cytoplasm;Cell membrane;Nucleus;Lamellipodium Mental retardation, autosomal dominant 48 PE1 7 +NX_P63010 937 104553 5.22 0 Cytoplasmic vesicle;Coated pit;Cell membrane NA PE1 17 +NX_P63027 116 12663 7.84 1 Synaptosome;Synaptic vesicle membrane;Cell membrane NA PE1 17 +NX_P63092 394 45665 5.59 0 Cell membrane Pseudohypoparathyroidism 1B;Pseudohypoparathyroidism 1C;Pseudohypoparathyroidism 1A;Albright hereditary osteodystrophy;GNAS hyperfunction;Progressive osseous heteroplasia;ACTH-independent macronodular adrenal hyperplasia 1;McCune-Albright syndrome PE1 20 +NX_P63096 354 40361 5.69 0 Golgi apparatus;Cytoplasm;Cell cortex;Cell membrane;Nucleus;Membrane;Centrosome NA PE1 7 +NX_P63098 170 19300 4.64 0 Cytosol;Cytoplasm;Sarcolemma;Cell membrane NA PE1 2 +NX_P63104 245 27745 4.73 0 Cytoplasm;Melanosome NA PE1 8 +NX_P63119 156 17107 7.92 0 NA NA PE3 12 +NX_P63120 156 17107 7.92 0 NA NA PE3 19 +NX_P63121 156 17136 5.86 0 NA NA PE3 19 +NX_P63122 156 17206 8.56 0 NA NA PE3 8 +NX_P63123 156 17101 7.95 0 NA NA PE3 1 +NX_P63124 156 17121 5.86 0 NA NA PE3 5 +NX_P63125 156 17077 7.92 0 NA NA PE3 11 +NX_P63126 666 74005 9.02 0 Cell membrane NA PE1 6 +NX_P63127 156 17194 8.56 0 NA NA PE3 6 +NX_P63128 1117 123620 9.04 0 Cell membrane NA PE3 6 +NX_P63129 156 17139 7.92 0 NA NA PE3 22 +NX_P63130 666 74111 8.99 0 Cell membrane NA PE3 1 +NX_P63131 156 17078 5.86 0 NA NA PE3 1 +NX_P63132 956 107766 9.06 0 NA NA PE3 19 +NX_P63133 956 107703 9.11 0 NA NA PE3 8 +NX_P63135 1459 165184 9.09 0 NA NA PE3 1 +NX_P63136 954 107472 9.14 0 NA NA PE3 11 +NX_P63145 666 74040 8.99 0 Cell membrane NA PE1 22 +NX_P63146 152 17312 4.91 0 Nucleus;Cell membrane NA PE1 5 +NX_P63151 447 51692 5.82 0 NA NA PE1 8 +NX_P63162 240 24614 11.2 0 Nucleus NA PE1 15 +NX_P63165 101 11557 5.34 0 Nucleus speckle;Nucleolus;Nucleus membrane;PML body;Cytoplasm;Cell membrane;Nucleus Non-syndromic orofacial cleft 10 PE1 2 +NX_P63167 89 10366 6.89 0 Mitochondrion;Cytoskeleton;Nucleus;Centrosome NA PE1 12 +NX_P63172 113 12452 5 0 Nucleoplasm;Cytoplasm;Spindle;Golgi apparatus NA PE1 6 +NX_P63173 70 8218 10.1 0 Cytosol;Endoplasmic reticulum NA PE1 17 +NX_P63208 163 18658 4.4 0 Cytosol;Nucleus NA PE1 5 +NX_P63211 74 8496 4.76 0 Cell membrane NA PE1 7 +NX_P63215 75 8305 7.65 0 Cell membrane NA PE1 11 +NX_P63218 68 7318 9.9 0 Cell membrane NA PE1 1 +NX_P63220 83 9111 8.68 0 Cytosol;Cytoplasm;Rough endoplasmic reticulum;Endoplasmic reticulum NA PE1 20 +NX_P63241 154 16832 5.07 0 Endoplasmic reticulum membrane;Cytosol;Cytoplasm;Nuclear pore complex;Nucleoplasm;Nucleus NA PE1 17 +NX_P63244 317 35077 7.6 0 Phagocytic cup;Perikaryon;Dendrite;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Perinuclear region;Nucleus NA PE1 5 +NX_P63252 427 48288 5.47 2 Membrane Short QT syndrome 3;Long QT syndrome 7;Atrial fibrillation, familial, 9 PE1 17 +NX_P63261 375 41793 5.31 0 Cytoplasm;Cytoskeleton Deafness, autosomal dominant, 20;Baraitser-Winter syndrome 2 PE1 17 +NX_P63267 376 41877 5.31 0 Cytoskeleton Visceral myopathy PE1 2 +NX_P63272 117 13193 8.29 0 Nucleus NA PE1 17 +NX_P63279 158 18007 8.87 0 Cytosol;Cytoplasm;Nucleus NA PE1 16 +NX_P63302 87 9448 9.3 0 Cytoplasm NA PE1 19 +NX_P63313 44 5026 5.31 0 Cytoskeleton NA PE1 2 +NX_P63316 161 18403 4.04 0 Mitochondrion;Nucleoplasm;Cytoskeleton Cardiomyopathy, familial hypertrophic 13;Cardiomyopathy, dilated 1Z PE1 3 +NX_P67775 309 35594 5.3 0 Cytoplasm;Nucleus;Centromere;Spindle pole NA PE1 5 +NX_P67809 324 35924 9.87 0 Nucleolus;Secreted;Cytosol;Cytoplasm;Cytoplasmic vesicle;Cytoplasmic granule;Nucleus NA PE1 1 +NX_P67812 179 20625 9.48 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 15 +NX_P67870 215 24942 5.33 0 NA NA PE1 6 +NX_P67936 248 28522 4.67 0 Cytosol;Cytoplasm;Cytoskeleton NA PE1 19 +NX_P68032 377 42019 5.23 0 Cytoskeleton Cardiomyopathy, dilated 1R;Atrial septal defect 5;Cardiomyopathy, familial hypertrophic 11 PE1 15 +NX_P68036 154 17862 8.68 0 Cytoplasm;Nucleus NA PE1 22 +NX_P68104 462 50141 9.1 0 Cytoplasm;Nucleolus;Nucleus;Cell membrane NA PE1 6 +NX_P68106 108 11783 8.62 0 Cytoplasmic vesicle;Cytoplasm;Sarcoplasmic reticulum NA PE1 2 +NX_P68133 377 42051 5.23 0 Cytoskeleton Myopathy, actin, congenital, with excess of thin myofilaments;Nemaline myopathy 3;Myopathy, scapulohumeroperoneal;Myopathy, congenital, with fiber-type disproportion PE1 1 +NX_P68363 451 50152 4.94 0 Cytoplasm;Cytoskeleton NA PE1 12 +NX_P68366 448 49924 4.95 0 Cytoskeleton Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia PE1 2 +NX_P68371 445 49831 4.79 0 Cytoplasm;Cytoskeleton Leber congenital amaurosis with early-onset deafness PE1 9 +NX_P68400 391 45144 7.29 0 Nucleus Okur-Chung neurodevelopmental syndrome PE1 20 +NX_P68402 229 25569 5.57 0 Cytosol;Cytoplasm;Nucleolus;Cell membrane NA PE1 11 +NX_P68431 136 15404 11.13 0 Nucleus;Chromosome Glioma PE1 6 +NX_P68543 259 29278 5.91 0 Cytoplasm;Nucleus;Centrosome NA PE1 2 +NX_P68871 147 15998 6.74 0 Cytoplasm;Nucleus Beta-thalassemia, dominant, inclusion body type;Heinz body anemias;Beta-thalassemia;Sickle cell anemia PE1 11 +NX_P69849 1222 134134 5.44 1 Membrane NA PE3 16 +NX_P69891 147 16140 6.64 0 NA NA PE1 11 +NX_P69892 147 16126 6.64 0 NA Cyanosis transient neonatal PE1 11 +NX_P69905 142 15258 8.72 0 NA Hemoglobin H disease;Alpha-thalassemia;Heinz body anemias PE1 16 +NX_P78310 365 40030 7.49 1 Basolateral cell membrane;Secreted;Cell membrane;Adherens junction;Cell junction;Tight junction NA PE1 21 +NX_P78312 1265 139988 6.04 0 Cytosol;Cell membrane NA PE1 4 +NX_P78314 561 62244 7.67 0 Cytoskeleton;Nucleus Cherubism PE1 4 +NX_P78316 857 97668 7.33 0 Nucleolus;Nucleus NA PE1 4 +NX_P78317 190 21319 6.59 0 Nucleoplasm;Cytoplasm;Nucleus;PML body NA PE1 4 +NX_P78318 339 39222 5.26 0 Cytoplasm;Cytoskeleton Mental retardation, X-linked, syndromic, 28 PE1 X +NX_P78324 504 54967 6.51 1 Membrane NA PE1 20 +NX_P78325 824 88771 7.63 1 Membrane NA PE1 10 +NX_P78329 520 59853 6.6 0 Endoplasmic reticulum membrane;Microsome membrane Coumarin resistance PE1 19 +NX_P78330 225 25008 5.53 0 Cytosol Phosphoserine phosphatase deficiency PE1 7 +NX_P78332 1123 128644 5.93 0 Cytosol;Nucleus speckle;Nucleus NA PE1 3 +NX_P78333 572 63707 6.38 0 Cytosol;Extracellular space;Nucleus;Cell membrane NA PE1 13 +NX_P78334 506 57972 8.36 4 Postsynaptic cell membrane;Cell membrane NA PE2 X +NX_P78337 314 34128 9.13 0 Nucleolus;Nucleus Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly;Liebenberg syndrome PE1 5 +NX_P78344 907 102362 6.7 0 Cytosol NA PE1 11 +NX_P78345 283 31834 9.94 0 Nucleolus NA PE1 10 +NX_P78346 268 29321 9.11 0 Cytosol;Cytoskeleton;Nucleolus;Nucleus NA PE1 10 +NX_P78347 998 112416 6.09 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 7 +NX_P78348 528 59909 5.48 2 Cell membrane;Golgi apparatus NA PE1 12 +NX_P78352 724 80495 5.58 0 Cytoplasmic vesicle;Synapse;Cytoplasm;Cell membrane;Axon;Postsynaptic density NA PE1 17 +NX_P78356 416 47378 6.9 0 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA PE1 17 +NX_P78357 1384 156267 6.61 1 Nucleoplasm;Paranodal septate junction;Membrane Lethal congenital contracture syndrome 7 PE1 17 +NX_P78358 180 17992 8.79 0 Cytoplasm NA PE1 X +NX_P78362 688 77527 4.87 0 Cytosol;Cytoplasm;Nucleus NA PE1 7 +NX_P78363 2273 255944 5.89 12 Membrane Cone-rod dystrophy 3;Macular degeneration, age-related, 2;Stargardt disease 1;Retinitis pigmentosa 19;Fundus flavimaculatus PE1 1 +NX_P78364 1004 105534 9.17 0 Nucleus Microcephaly 11, primary, autosomal recessive PE1 12 +NX_P78367 333 34814 8.12 0 Nucleoplasm;Nucleus Spondylo-megaepiphyseal-metaphyseal dysplasia PE1 4 +NX_P78368 415 47457 9.16 0 Cytoplasmic vesicle;Cytoplasm NA PE1 19 +NX_P78369 228 24488 8.32 4 Tight junction;Cell membrane HELIX syndrome PE1 13 +NX_P78371 535 57488 6.01 0 Cytosol;Cytoplasm NA PE1 12 +NX_P78380 273 30959 6.94 1 Cytoplasmic vesicle;Nucleoplasm;Membrane raft;Cell membrane;Secreted NA PE1 12 +NX_P78381 396 41307 9.98 10 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2M PE1 X +NX_P78382 337 36779 9.11 10 Golgi apparatus membrane Congenital disorder of glycosylation 2F PE1 6 +NX_P78383 322 35760 9.36 8 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Nucleus;Endoplasmic reticulum NA PE1 17 +NX_P78385 493 54195 5.54 0 NA Monilethrix;Erythrokeratodermia variabilis et progressiva 5 PE1 12 +NX_P78386 507 55802 6.27 0 NA Ectodermal dysplasia 4, hair/nail type PE1 12 +NX_P78395 509 57890 6.44 0 Nucleus;Cell membrane NA PE1 22 +NX_P78396 465 52358 4.99 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 13 +NX_P78406 368 40968 7.96 0 Cytoplasm;Nucleolus;Nucleus;Spindle pole NA PE1 20 +NX_P78410 334 36428 5.23 1 Cell membrane NA PE1 6 +NX_P78411 483 50361 6.03 0 Cytosol;Nucleus speckle;Cytoskeleton;Nucleus Hamamy syndrome PE1 16 +NX_P78412 446 48240 5.81 0 Mitochondrion;Nucleus NA PE2 16 +NX_P78413 519 54445 5.84 0 Cytoplasmic vesicle;Nucleus NA PE1 5 +NX_P78414 480 49621 5.78 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 5 +NX_P78415 501 52119 4.88 0 Cytoplasmic vesicle;Nucleus NA PE1 16 +NX_P78417 241 27566 6.24 0 Cytosol NA PE1 10 +NX_P78423 397 42203 6.08 1 Cell membrane;Secreted NA PE1 16 +NX_P78424 691 73265 7.31 0 Nucleus Hereditary susceptibility to Wilms tumor 5 PE1 7 +NX_P78426 367 37849 9.46 0 Nucleoplasm;Nucleus NA PE1 4 +NX_P78504 1218 133799 5.7 1 Golgi apparatus;Cell membrane;Membrane Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot;Alagille syndrome 1 PE1 20 +NX_P78508 379 42508 8.18 2 Basolateral cell membrane;Membrane Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance PE1 1 +NX_P78509 3460 388388 5.54 0 Focal adhesion;Cell membrane;Extracellular matrix Epilepsy, familial temporal lobe, 7;Lissencephaly 2 PE1 7 +NX_P78524 1137 126485 9.35 0 Nucleoplasm NA PE1 11 +NX_P78527 4128 469089 6.75 0 Nucleoplasm;Nucleolus;Nucleus Immunodeficiency 26 with or without neurologic abnormalities PE1 8 +NX_P78536 824 93021 5.5 1 Cytosol;Membrane Inflammatory skin and bowel disease, neonatal, 1 PE1 2 +NX_P78537 153 17263 9.37 0 Mitochondrion matrix;Cytosol;Lysosome membrane;Mitochondrion intermembrane space NA PE1 12 +NX_P78539 464 51572 8.98 0 Cell surface NA PE1 X +NX_P78540 354 38578 6 0 Mitochondrion NA PE1 14 +NX_P78543 158 17416 8.29 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 1 +NX_P78545 371 41454 5.52 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_P78549 312 34390 9.72 0 Mitochondrion;Nucleus Familial adenomatous polyposis 3 PE1 16 +NX_P78552 427 48760 5.7 1 Nucleoplasm;Golgi apparatus;Membrane NA PE1 X +NX_P78556 96 10762 9.21 0 Secreted NA PE1 2 +NX_P78559 2803 305485 4.85 0 Cytosol;Cytoskeleton NA PE1 15 +NX_P78560 199 22745 6.32 0 Cytosol;Cytoplasm;Nucleus Mental retardation, autosomal recessive 34, with variant lissencephaly PE1 12 +NX_P78562 749 86474 8.91 1 Cell membrane Hypophosphatemic rickets, X-linked dominant PE1 X +NX_P78563 741 80763 9.11 0 Cytosol;Nucleoplasm;Nucleolus;Nucleus NA PE1 21 +NX_P79483 266 29962 8.81 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA PE1 6 +NX_P79522 188 20640 9.87 0 Cytosol;Nucleoplasm NA PE1 6 +NX_P80075 99 11246 9.47 0 Secreted NA PE1 17 +NX_P80098 99 11200 9.72 0 Secreted NA PE1 17 +NX_P80108 840 92336 5.91 0 Secreted NA PE1 6 +NX_P80162 114 11897 9.91 0 Secreted NA PE1 4 +NX_P80188 198 22588 9.02 0 Cytoplasmic granule lumen;Cytoplasmic vesicle lumen;Endoplasmic reticulum;Secreted NA PE1 9 +NX_P80192 1104 121895 5.63 0 Nucleolus;Nucleus NA PE1 14 +NX_P80217 286 31546 5.75 0 Nucleoplasm;Cytosol;Nucleus NA PE1 17 +NX_P80294 61 6039 8.49 0 NA NA PE1 16 +NX_P80297 61 6068 8.38 0 Cytoplasm;Nucleus NA PE1 16 +NX_P80303 420 50223 5.03 0 Golgi apparatus;Secreted;Cytoplasm;Nucleus envelope;Endoplasmic reticulum;Membrane NA PE1 11 +NX_P80365 405 44127 9.42 0 Cytoplasmic vesicle;Microsome;Endoplasmic reticulum Apparent mineralocorticoid excess PE1 16 +NX_P80370 383 41300 5.43 1 Cytoplasm;Golgi apparatus;Membrane NA PE1 14 +NX_P80404 500 56439 8.17 0 Mitochondrion matrix;Mitochondrion GABA transaminase deficiency PE1 16 +NX_P80511 92 10575 5.83 0 Cytoplasm;Cytoskeleton;Cell membrane;Secreted NA PE1 1 +NX_P80723 227 22693 4.64 0 Growth cone;Cell membrane NA PE1 5 +NX_P80748 117 12446 5.03 0 Cell membrane;Secreted NA PE1 22 +NX_P81133 766 85515 7.03 0 Nucleus speckle;Nucleus NA PE1 6 +NX_P81172 84 9408 9.24 0 Secreted Hemochromatosis 2B PE1 19 +NX_P81274 684 76662 5.97 0 Cytosol;Cytoplasm;Cell cortex;Spindle pole;Lateral cell membrane Chudley-McCullough syndrome PE1 1 +NX_P81277 87 9639 11.66 0 Secreted NA PE1 2 +NX_P81408 668 71355 8.87 4 Nucleoplasm;Membrane NA PE1 1 +NX_P81534 67 7697 10.15 0 Nucleus;Secreted NA PE1 8 +NX_P81605 110 11284 6.09 0 Secreted NA PE1 12 +NX_P81877 361 37828 6.16 0 Nucleoplasm;Nucleus NA PE1 5 +NX_P82094 1093 122842 4.88 0 Nucleus;Golgi apparatus membrane;Golgi apparatus;Cytoplasm NA PE1 3 +NX_P82251 487 53481 8.4 12 Apical cell membrane Cystinuria PE1 19 +NX_P82279 1406 154183 4.84 1 Cytoplasmic vesicle;Apical cell membrane;Secreted Retinitis pigmentosa 12;Pigmented paravenous chorioretinal atrophy;Leber congenital amaurosis 8 PE1 1 +NX_P82650 360 41280 7.7 0 Mitochondrion Combined oxidative phosphorylation deficiency 5 PE1 3 +NX_P82663 173 20116 8.99 0 Mitochondrion NA PE1 3 +NX_P82664 201 22999 7.78 0 Mitochondrion;Cytoskeleton NA PE1 6 +NX_P82673 323 36844 8.41 0 Mitochondrion;Cytosol NA PE1 12 +NX_P82675 430 48006 9.93 0 Mitochondrion NA PE1 2 +NX_P82909 103 11466 9.99 0 Mitochondrion NA PE1 5 +NX_P82912 194 20616 10.82 0 Mitochondrion NA PE1 15 +NX_P82914 257 29842 10.48 0 Mitochondrion NA PE1 1 +NX_P82921 87 10689 9.96 0 Mitochondrion NA PE1 1 +NX_P82930 218 25650 9.98 0 Mitochondrion Combined oxidative phosphorylation deficiency 32 PE1 16 +NX_P82932 125 14227 9.3 0 Mitochondrion NA PE1 21 +NX_P82933 396 45835 9.54 0 Mitochondrion;Nucleolus NA PE1 2 +NX_P82970 282 31525 4.5 0 Nucleus NA PE1 X +NX_P82979 210 23671 6.1 0 Nucleus speckle;Nucleus NA PE1 12 +NX_P82980 135 15931 6.09 0 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus NA PE1 12 +NX_P82987 1691 188692 8.2 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 15 +NX_P83105 476 50979 8.37 0 Secreted NA PE1 8 +NX_P83110 453 48608 6.71 0 Cytoplasmic vesicle;Secreted NA PE1 4 +NX_P83111 547 60694 8.71 0 Mitochondrion NA PE1 15 +NX_P83369 360 39500 10.99 0 Nucleus NA PE1 5 +NX_P83436 770 86344 5.27 0 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2E PE1 16 +NX_P83731 157 17779 11.26 0 Cytosol;Cytoplasm;Endoplasmic reticulum NA PE1 3 +NX_P83859 136 14941 10.25 0 Secreted NA PE2 9 +NX_P83876 142 16786 5.53 0 Cytosol;Nucleus;Nucleus membrane Burn-McKeown syndrome PE1 18 +NX_P83881 106 12441 10.59 0 Cytoplasm NA PE1 X +NX_P83916 185 21418 4.85 0 Nucleus NA PE1 17 +NX_P84022 425 48081 6.73 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Loeys-Dietz syndrome 3;Colorectal cancer PE1 15 +NX_P84074 193 22427 4.87 0 Cytosol;Membrane Dystonia 2, torsion, autosomal recessive PE1 1 +NX_P84077 181 20697 6.31 0 Synaptosome;trans-Golgi network membrane;Golgi apparatus;Cytosol;Cell membrane;Perinuclear region;Membrane;Postsynaptic density NA PE1 1 +NX_P84085 180 20530 6.3 0 Perinuclear region;trans-Golgi network membrane;Golgi apparatus;Membrane NA PE1 7 +NX_P84090 104 12259 5.62 0 Cytosol;Nucleoplasm;Nucleus NA PE1 14 +NX_P84095 191 21309 8.41 0 Cell membrane NA PE1 11 +NX_P84098 196 23466 11.48 0 Cytosol;Nucleolus;Endoplasmic reticulum NA PE1 17 +NX_P84101 59 6900 10.44 0 Cytoplasm;Nucleolus;Nucleus NA PE1 15 +NX_P84103 164 19330 11.64 0 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA PE1 6 +NX_P84157 204 21466 4.24 1 Nucleus;Endoplasmic reticulum;Membrane NA PE1 17 +NX_P84243 136 15328 11.27 0 Nucleoplasm;Nucleus;Chromosome Glioma PE1 17 +NX_P84550 965 99831 6.11 0 Nucleus NA PE1 15 +NX_P84996 626 67948 11.55 0 Ruffle;Cell membrane Pseudohypoparathyroidism 1B;ACTH-independent macronodular adrenal hyperplasia 1;Colorectal cancer;GNAS hyperfunction PE1 20 +NX_P85037 733 75457 9.41 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA PE1 7 +NX_P85298 464 53484 9.45 0 Nucleus NA PE1 22 +NX_P85299 388 42753 8.31 0 NA NA PE1 22 +NX_P86397 168 18559 9.1 0 Mitochondrion;Nucleolus NA PE1 3 +NX_P86434 159 17238 6.18 0 NA NA PE5 22 +NX_P86452 979 109973 6.09 0 Nucleolus;Nucleus NA PE1 1 +NX_P86478 221 23262 5.85 0 NA NA PE1 13 +NX_P86479 221 23262 5.85 0 NA NA PE1 13 +NX_P86480 221 23262 5.85 0 NA NA PE1 13 +NX_P86481 221 23262 5.85 0 NA NA PE3 13 +NX_P86496 221 23262 5.85 0 NA NA PE2 13 +NX_P86790 482 55866 6.07 0 Cytoplasmic vesicle;Lysosome membrane NA PE1 7 +NX_P86791 482 55866 6.07 0 Cytoplasmic vesicle;Lysosome membrane NA PE1 7 +NX_P87889 666 74139 8.95 0 Cell membrane NA PE1 5 +NX_P98066 277 31203 6.3 0 NA NA PE1 2 +NX_P98073 1019 112935 4.89 1 Membrane Enterokinase deficiency PE1 21 +NX_P98077 582 61916 6.29 0 Cytosol NA PE1 19 +NX_P98082 770 82448 5.34 0 Nucleolus;Cytoplasm;Clathrin-coated pit;Clathrin-coated vesicle membrane;Cytoplasmic vesicle;Cell membrane NA PE1 5 +NX_P98088 5654 585570 6.71 0 Cytoplasmic vesicle;Secreted NA PE1 11 +NX_P98095 1184 126573 4.73 0 Cell membrane;Extracellular matrix NA PE1 3 +NX_P98153 550 60811 5.11 1 Nucleoplasm;Nucleus;Membrane NA PE1 22 +NX_P98155 873 96098 4.62 1 Cytoplasmic vesicle;Cytoskeleton;Microtubule organizing center;Clathrin-coated pit;Membrane Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 PE1 9 +NX_P98160 4391 468830 6.06 0 Cytosol;Nucleoplasm;Basement membrane;Cell membrane Dyssegmental dysplasia Silverman-Handmaker type;Schwartz-Jampel syndrome PE1 1 +NX_P98161 4303 462529 6.28 11 Endoplasmic reticulum;Golgi apparatus;Cilium;Cell membrane Polycystic kidney disease 1 with or without polycystic liver disease PE1 16 +NX_P98164 4655 521958 4.89 1 Axon;Apical cell membrane;Cytoplasmic vesicle;Dendrite;Coated pit;Endosome lumen;Mitochondrion Donnai-Barrow syndrome PE1 2 +NX_P98168 799 84771 7.35 0 Nucleus NA PE1 X +NX_P98169 803 84792 6.46 0 Nucleus NA PE1 X +NX_P98170 497 56685 6.22 0 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm Lymphoproliferative syndrome, X-linked, 2 PE1 X +NX_P98171 946 105026 5.96 0 Nucleoplasm;Cytoplasm;Focal adhesion NA PE1 X +NX_P98172 346 38007 9.1 1 Nucleus;Membrane raft;Cell membrane Craniofrontonasal syndrome PE1 X +NX_P98173 230 25152 8.9 0 Nucleolus;Nucleus;Endoplasmic reticulum;Secreted NA PE1 X +NX_P98174 961 106561 6.14 0 Ruffle;Cytosol;Cytoplasm;Cell membrane;Lamellipodium;Cytoskeleton Aarskog-Scott syndrome PE1 X +NX_P98175 930 103533 5.69 0 Nucleus speckle;Nucleus TARP syndrome PE1 X +NX_P98177 505 53684 5.13 0 Cytosol;Nucleus speckle;Nucleus;Cytoplasm NA PE1 X +NX_P98179 157 17170 8.86 0 Nucleoplasm;Cytoplasm;Nucleus;Dendrite NA PE1 X +NX_P98182 395 45534 8.64 0 Mitochondrion;Nucleus NA PE1 16 +NX_P98187 520 59995 8.73 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 19 +NX_P98194 919 100577 6.34 10 Golgi apparatus membrane;Golgi apparatus Hailey-Hailey disease PE1 3 +NX_P98196 1134 129756 6.17 10 Cytoplasmic vesicle;Recycling endosome;Cell membrane;Endoplasmic reticulum;Early endosome NA PE1 13 +NX_P98198 1209 137440 6.57 10 Endoplasmic reticulum membrane;Cell membrane NA PE1 1 +NX_P99999 105 11749 9.59 0 Mitochondrion;Nucleus;Mitochondrion intermembrane space Thrombocytopenia 4 PE1 7 +NX_Q00005 443 51710 6.01 0 Mitochondrion;Cytoplasm;Cytoskeleton;Membrane;Mitochondrion outer membrane Spinocerebellar ataxia 12 PE1 5 +NX_Q00013 466 52296 6.91 0 Nucleus speckle;Nucleolus;Cytosol;Cytoplasm;Stereocilium;Cell membrane;Nucleus NA PE1 X +NX_Q00056 320 34499 9.95 0 Nucleus NA PE1 7 +NX_Q00059 246 29097 9.74 0 Mitochondrion;Mitochondrion nucleoid Mitochondrial DNA depletion syndrome 15, hepatocerebral type PE1 10 +NX_Q00169 270 31806 6.12 0 Cytoplasm NA PE1 17 +NX_Q00266 395 43648 5.86 0 NA Methionine adenosyltransferase deficiency PE1 10 +NX_Q00325 362 40095 9.45 6 Mitochondrion;Mitochondrion inner membrane Mitochondrial phosphate carrier deficiency PE1 12 +NX_Q00341 1268 141456 6.43 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q00403 316 34833 8.67 0 Nucleus;Chromosome NA PE1 1 +NX_Q00444 222 24976 9.57 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q00526 305 35046 8.86 0 Cytosol NA PE1 17 +NX_Q00532 358 41803 9.04 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus NA PE1 14 +NX_Q00534 326 36938 6.02 0 Ruffle;Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Centrosome Microcephaly 12, primary, autosomal recessive PE1 7 +NX_Q00535 292 33304 7.57 0 Perikaryon;Cytoplasm;Cell membrane;Growth cone;Nucleus;Postsynaptic density;Lamellipodium;Cell junction Lissencephaly 7, with cerebellar hypoplasia PE1 7 +NX_Q00536 496 55716 7.23 0 Synaptosome;Cytosol;Cytoplasm;Cell membrane;Secretory vesicle;Cytoskeleton NA PE1 X +NX_Q00537 523 59582 9.1 0 Nucleoplasm;Cytosol NA PE1 12 +NX_Q00577 322 34911 6.07 0 Nucleus Mental retardation, autosomal dominant 31 PE1 5 +NX_Q00587 391 40295 6.64 0 Cytoskeleton;Cell membrane;Endomembrane system NA PE1 22 +NX_Q00597 558 63429 5.77 0 Nucleoplasm;Cytoplasm;Nucleus Fanconi anemia complementation group C PE1 9 +NX_Q00604 133 15044 9.17 0 Cytoplasmic vesicle;Nucleolus;Nucleus;Secreted Vitreoretinopathy, exudative 2;Norrie disease PE1 X +NX_Q00610 1675 191615 5.48 0 Melanosome;Cytosol;Cytoplasmic vesicle;Coated pit;Spindle;Cytoplasmic vesicle membrane Mental retardation, autosomal dominant 56 PE1 17 +NX_Q00613 529 57260 5.02 0 Kinetochore;Cytosol;Cytoplasm;Centrosome;Nucleoplasm;Perinuclear region;Nucleus;Spindle pole NA PE1 8 +NX_Q00653 900 96749 5.84 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Immunodeficiency, common variable, 10 PE1 10 +NX_Q00688 224 25177 9.29 0 Cytosol;Nucleus NA PE1 14 +NX_Q00722 1185 134024 5.96 0 Cytosol NA PE1 15 +NX_Q00765 189 21493 8.25 2 Endoplasmic reticulum;Membrane NA PE1 5 +NX_Q00796 357 38325 8.23 0 Cytosol;Flagellum;Mitochondrion membrane NA PE1 15 +NX_Q00839 825 90584 5.76 0 Kinetochore;Nucleus speckle;Cytoplasmic granule;Nucleoplasm;Cytoplasm;Centrosome;Midbody;Nucleus;Cell surface;Nucleus matrix;Spindle;Spindle pole;Chromosome Epileptic encephalopathy, early infantile, 54 PE1 1 +NX_Q00872 1141 128294 5.78 0 Cytoplasm Lethal congenital contracture syndrome 4;Arthrogryposis, distal, 1B PE1 12 +NX_Q00887 426 48272 8.27 0 Secreted NA PE1 19 +NX_Q00888 419 47113 9.34 0 Secreted NA PE1 19 +NX_Q00889 435 48814 8.86 0 Secreted NA PE1 19 +NX_Q008S8 904 104880 8.65 0 NA NA PE2 6 +NX_Q00973 533 58882 8.93 1 Golgi apparatus membrane Spastic paraplegia 26, autosomal recessive PE1 12 +NX_Q00975 2339 262496 8.78 24 Membrane Dystonia 23 PE1 9 +NX_Q00978 393 43696 5.58 0 Cytosol;Cytoplasm;Nucleus NA PE1 14 +NX_Q00987 491 55233 4.6 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA PE1 12 +NX_Q00994 111 12958 5.31 0 Cytosol;Cytoplasm;Nucleus NA PE1 X +NX_Q00G26 463 50791 5.08 0 Mitochondrion;Cytoplasm;Lipid droplet NA PE1 19 +NX_Q00LT1 54 6007 7.96 0 Cytoplasm;Endoplasmic reticulum;Golgi apparatus;Secreted Retinitis pigmentosa 36 PE1 17 +NX_Q01064 536 61380 5.33 0 Cytoplasm NA PE1 12 +NX_Q01081 240 27872 9.09 0 Nucleoplasm;Nucleus speckle;Nucleus Myelodysplastic syndrome PE1 21 +NX_Q01082 2364 274609 5.39 0 Cytoplasm;Cytoskeleton;M line;Golgi apparatus;Cell membrane NA PE1 2 +NX_Q01085 375 41591 7.62 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytoplasmic granule NA PE1 10 +NX_Q01094 437 46920 4.79 0 Nucleoplasm;Nucleus;Centrosome NA PE1 20 +NX_Q01101 510 52923 9.19 0 Nucleus NA PE1 20 +NX_Q01105 290 33489 4.23 0 Nucleoplasm;Cytosol;Nucleus;Endoplasmic reticulum NA PE1 9 +NX_Q01113 521 57147 5.27 1 Cell membrane;Secreted NA PE1 X +NX_Q01118 1682 193493 8.26 24 Cell membrane NA PE1 2 +NX_Q01130 221 25476 11.86 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 17 +NX_Q01151 205 23042 8.45 1 Cytoplasmic vesicle;Membrane NA PE1 6 +NX_Q01167 660 69062 9.56 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 17 +NX_Q01196 453 48737 9.4 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus Familial platelet disorder with associated myeloid malignancy PE1 21 +NX_Q01201 579 62134 5.84 0 Cytosol;Nucleoplasm;Nucleus;Centrosome Immunodeficiency 53 PE1 19 +NX_Q01344 420 47685 5.36 1 Membrane NA PE1 3 +NX_Q01362 244 26534 5.05 4 Membrane NA PE1 11 +NX_Q01415 458 50378 6.19 0 Nucleoplasm;Cytosol NA PE1 15 +NX_Q01432 767 88812 6.51 0 Nucleus membrane Adenosine monophosphate deaminase deficiency erythrocyte type PE1 11 +NX_Q01433 879 100688 6.46 0 Cytosol Spastic paraplegia 63, autosomal recessive;Pontocerebellar hypoplasia 9 PE1 1 +NX_Q01449 175 19448 4.83 0 NA NA PE1 7 +NX_Q01453 160 17891 7.75 4 Cell membrane Charcot-Marie-Tooth disease 1A;Hereditary neuropathy with liability to pressure palsies;Charcot-Marie-Tooth disease 1E;Inflammatory demyelinating polyneuropathy;Dejerine-Sottas syndrome PE1 17 +NX_Q01459 385 43760 6.19 0 Cytosol;Lysosome NA PE1 1 +NX_Q01469 135 15164 6.6 0 Synapse;Secreted;Cytosol;Cytoplasm;Cell membrane;Nucleus;Postsynaptic density NA PE1 8 +NX_Q01484 3957 433715 5.03 0 Apical cell membrane;Lysosome;Early endosome;Cell membrane;T-tubule;Postsynaptic cell membrane;Membrane;Mitochondrion;Cytoskeleton;M line;Recycling endosome;Z line Long QT syndrome 4 PE1 4 +NX_Q01518 475 51901 8.24 0 Cytosol;Cell membrane NA PE1 1 +NX_Q01523 94 10071 8.3 0 Secretory vesicle;Secreted NA PE1 8 +NX_Q01524 100 10975 5.21 0 Secreted NA PE1 8 +NX_Q01534 308 35012 5.29 0 Cytoplasm;Nucleus NA PE1 Y +NX_Q01538 1121 122329 4.81 0 Cytosol;Nucleoplasm;Nucleus NA PE1 20 +NX_Q01543 452 50982 6.57 0 Nucleus Bleeding disorder, platelet-type 21;Ewing sarcoma PE1 11 +NX_Q01546 638 65841 8.38 0 NA NA PE1 12 +NX_Q01581 520 57294 5.22 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 5 +NX_Q01628 133 14632 6.49 1 Lysosome membrane;Endosome;Late endosome membrane;Cell membrane NA PE1 11 +NX_Q01629 132 14632 6.89 1 Cell membrane NA PE1 11 +NX_Q01638 556 63358 8.63 1 Cytoplasmic vesicle;Cell membrane;Secreted NA PE1 2 +NX_Q01650 507 55010 7.9 12 Cytosol;Cytoplasmic vesicle;Apical cell membrane;Cell membrane NA PE1 16 +NX_Q01658 176 19444 4.69 0 Nucleus NA PE1 1 +NX_Q01664 338 38726 5.63 0 Mitochondrion;Nucleoplasm;Nucleus NA PE1 16 +NX_Q01668 2161 245141 6.32 24 Nucleus membrane;Membrane Sinoatrial node dysfunction and deafness;Primary aldosteronism, seizures, and neurologic abnormalities PE1 3 +NX_Q01718 297 33927 9.02 7 Cell membrane Glucocorticoid deficiency 1 PE1 18 +NX_Q01726 317 34706 8.78 7 Cell membrane Melanoma, cutaneous malignant 5 PE1 16 +NX_Q01740 532 60311 6.8 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 1 +NX_Q01780 885 100831 8.68 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 1 +NX_Q01804 1114 124045 6.25 0 Cytosol;Cytoplasm;Nucleus NA PE1 4 +NX_Q01813 784 85596 7.5 0 Cytosol;Cytoplasm NA PE1 10 +NX_Q01814 1243 136876 5.66 10 Synapse;Cell membrane NA PE1 3 +NX_Q01826 763 85957 6.1 0 Nucleoplasm;PML body;Nucleus;Nucleus matrix NA PE1 3 +NX_Q01831 940 105953 9.03 0 Cytoplasm;Nucleus;Cell membrane Xeroderma pigmentosum complementation group C PE1 3 +NX_Q01844 656 68478 9.37 0 Cytoplasm;Nucleolus;Nucleus;Cell membrane Angiomatoid fibrous histiocytoma;Ewing sarcoma PE1 22 +NX_Q01850 454 51855 5.01 0 Nucleoplasm NA PE1 16 +NX_Q01851 419 42697 9.15 0 Cytoplasm;Nucleus NA PE2 13 +NX_Q01860 360 38571 5.69 0 Cytoplasm;Nucleus NA PE1 6 +NX_Q01892 262 28819 5.35 0 Cytoplasm;Nucleus NA PE1 19 +NX_Q01954 994 110972 7 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 15 +NX_Q01955 1670 161813 9.28 0 Cytoplasmic vesicle;Basement membrane;Endoplasmic reticulum Alport syndrome, autosomal dominant;Hematuria, benign familial;Alport syndrome, autosomal recessive PE1 2 +NX_Q01959 620 68495 6.46 12 Cytoplasmic vesicle;Cell membrane Parkinsonism-dystonia infantile PE1 5 +NX_Q01968 901 104205 6.13 0 Endosome;Photoreceptor outer segment;Cytosol;Early endosome membrane;Clathrin-coated pit;Cytoplasmic vesicle;trans-Golgi network;Phagosome membrane;Cytoskeleton;Cilium Dent disease 2;Lowe oculocerebrorenal syndrome PE1 X +NX_Q01970 1234 138799 5.68 0 Nucleoplasm;Membrane NA PE1 11 +NX_Q01973 937 104283 6.76 1 Axon;Cytoskeleton;Membrane Deafness, autosomal recessive, 108 PE1 1 +NX_Q01974 943 104757 6.1 1 Cell membrane Brachydactyly B1;Robinow syndrome autosomal recessive PE1 9 +NX_Q01995 201 22611 8.87 0 Cytosol;Cytoplasm;Cytoskeleton;Mitochondrion NA PE1 11 +NX_Q02040 695 80735 9.76 0 Cytosol;Nucleus speckle NA PE1 X +NX_Q02045 173 19534 4.87 0 Nucleolus;Nucleus NA PE1 4 +NX_Q02078 507 54811 7.72 0 Nucleoplasm;Nucleus Coronary artery disease, autosomal dominant, 1 PE1 15 +NX_Q02080 365 38639 9.58 0 Nucleus NA PE1 19 +NX_Q02083 359 40066 8.88 0 Lysosome NA PE1 4 +NX_Q02086 613 64900 9.95 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 17 +NX_Q02094 409 44198 6.35 12 Endoplasmic reticulum;Membrane Overhydrated hereditary stomatocytosis;Regulator type Rh-null hemolytic anemia PE1 6 +NX_Q02108 690 77452 6.75 0 Cytoplasm;Nucleus Moyamoya disease 6 with achalasia PE1 4 +NX_Q02127 395 42867 9.66 1 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane Postaxial acrofacial dysostosis PE1 16 +NX_Q02153 619 70514 5.2 0 Cytosol;Cytoplasm NA PE1 4 +NX_Q02156 737 83674 6.73 0 Cytoplasm;Cell membrane;Cytoplasmic vesicle;Perinuclear region;Nucleus;Cytoskeleton NA PE1 2 +NX_Q02161 417 45211 8.71 11 Cytoplasm;Cell membrane NA PE1 1 +NX_Q02218 1023 115935 6.39 0 Mitochondrion;Mitochondrion matrix;Nucleus NA PE1 7 +NX_Q02221 97 10815 10.91 0 Mitochondrion inner membrane NA PE1 16 +NX_Q02223 184 20165 5.24 1 Cell membrane;Endomembrane system NA PE1 16 +NX_Q02224 2701 316415 5.51 0 Kinetochore;Cytosol;Nucleoplasm;Cytoskeleton;Centromere;Spindle Microcephaly 13, primary, autosomal recessive PE1 4 +NX_Q02241 960 110059 8.76 0 Nucleoplasm;Midbody ring;Spindle;Nucleus NA PE1 15 +NX_Q02246 1040 113393 8.11 0 Cell membrane Epilepsy, familial adult myoclonic, 5 PE1 1 +NX_Q02252 535 57840 8.72 0 Mitochondrion Methylmalonate semialdehyde dehydrogenase deficiency PE1 14 +NX_Q02297 640 70392 9 1 Nucleoplasm;Membrane;Nucleus;Cell membrane;Secreted NA PE1 8 +NX_Q02318 531 60235 9.05 0 Mitochondrion;Mitochondrion membrane Cerebrotendinous xanthomatosis PE1 2 +NX_Q02325 96 10971 6.11 0 Secreted NA PE3 2 +NX_Q02338 343 38157 9.1 0 Mitochondrion;Mitochondrion matrix;Mitochondrion inner membrane NA PE1 3 +NX_Q02363 134 14917 7.82 0 Nucleoplasm;Cytoplasm;Nucleus;Centrosome NA PE1 2 +NX_Q02383 582 65444 9.09 0 Secreted NA PE1 20 +NX_Q02386 682 78242 8.98 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q02388 2944 295220 5.95 0 Basement membrane Epidermolysis bullosa dystrophica, autosomal recessive;Epidermolysis bullosa dystrophica, with subcorneal cleavage;Epidermolysis bullosa dystrophica, autosomal dominant;Epidermolysis bullosa dystrophica, pretibial type;Epidermolysis bullosa pruriginosa;Epidermolysis bullosa dystrophica, Bart type;Nail disorder, non-syndromic congenital, 8;Transient bullous dermolysis of the newborn PE1 3 +NX_Q02410 837 92865 4.84 0 Cytoplasm;Perinuclear region;Nucleus;Golgi apparatus NA PE1 9 +NX_Q02413 1049 113748 4.9 1 Desmosome;Cell membrane Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE;Palmoplantar keratoderma 1, striate, focal, or diffuse PE1 18 +NX_Q02446 784 81985 6.61 0 Cytosol;Nucleoplasm;Nucleus NA PE1 7 +NX_Q02447 781 81925 5.09 0 PML body;Nucleus NA PE1 2 +NX_Q02487 901 99962 5.19 1 Desmosome;Cell membrane Arrhythmogenic right ventricular dysplasia, familial, 11 PE1 18 +NX_Q02505 3323 345127 5.14 1 Secreted;Membrane NA PE1 7 +NX_Q02509 477 51728 4.76 0 Secreted NA PE2 8 +NX_Q02535 119 12999 5.55 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q02539 215 21842 10.99 0 Nucleus;Chromosome NA PE1 6 +NX_Q02543 176 20762 10.72 0 Cytosol;Nucleolus NA PE1 19 +NX_Q02548 391 42149 9.08 0 Cytoplasmic vesicle;Cytosol;Nucleus;Nucleoplasm Leukemia, acute lymphoblastic, 3 PE1 9 +NX_Q02556 426 48356 6.38 0 Nucleoplasm;Cytoplasm;Nucleus Immunodeficiency 32B;Immunodeficiency 32A PE1 16 +NX_Q02575 133 14618 9.06 0 Nucleus;Golgi apparatus NA PE2 1 +NX_Q02577 135 15018 7.91 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q02641 598 65714 6.33 0 Cell membrane;Sarcolemma NA PE1 17 +NX_Q02643 423 47402 6.26 7 Cell membrane Growth hormone deficiency, isolated, 1B PE1 7 +NX_Q02742 428 49799 8.65 1 Nucleus speckle;Golgi apparatus membrane NA PE1 9 +NX_Q02747 115 12388 4.56 0 Secreted NA PE1 1 +NX_Q02750 393 43439 6.18 0 Cytosol;Cytoplasm;Cell membrane;Spindle pole body;Nucleus;Membrane;Centrosome Cardiofaciocutaneous syndrome 3 PE1 15 +NX_Q02763 1124 125830 6.46 1 Secreted;Cell membrane;Microtubule organizing center;Focal adhesion;Cytoskeleton;Cell junction Dominantly inherited venous malformations;Glaucoma 3, primary congenital, E PE1 9 +NX_Q02779 954 103694 6.56 0 Cytosol;Cytoskeleton;Nucleus NA PE1 19 +NX_Q02790 459 51805 5.35 0 Cytosol;Axon;Nucleoplasm;Nucleus;Mitochondrion;Cytoskeleton NA PE1 12 +NX_Q02809 727 83550 6.46 0 Cytoplasmic vesicle;Nucleoplasm;Rough endoplasmic reticulum membrane Ehlers-Danlos syndrome, kyphoscoliotic type, 1 PE1 1 +NX_Q02817 5179 540300 5.49 0 Secreted NA PE1 11 +NX_Q02818 461 53879 5.15 0 Cytoplasm;Cytoskeleton;cis-Golgi network membrane;Golgi apparatus;Secreted NA PE1 19 +NX_Q02833 373 39945 5.5 0 Centrosome;Microtubule organizing center NA PE1 11 +NX_Q02846 1103 120059 7.15 1 Membrane Leber congenital amaurosis 1;Cone-rod dystrophy 6;Choroidal dystrophy, central areolar, 1 PE1 17 +NX_Q02878 288 32728 10.59 0 Cytosol;Cytoplasm;Cytoskeleton;Rough endoplasmic reticulum NA PE1 12 +NX_Q02880 1626 183267 8.14 0 Cytoplasm;Nucleolus;Nucleus NA PE1 3 +NX_Q02928 519 59348 8.96 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 1 +NX_Q02930 508 56918 8.76 0 Cytoplasmic vesicle;Nucleus;Cell membrane NA PE1 7 +NX_Q02952 1782 191482 4.37 0 Cytosol;Cytoplasm;Cell cortex;Cell membrane;Membrane;Cytoskeleton NA PE1 6 +NX_Q02962 417 44706 7.25 0 Nucleolus;Nucleus;Golgi apparatus Papillorenal syndrome;Focal segmental glomerulosclerosis 7 PE1 10 +NX_Q02978 314 34062 9.92 6 Mitochondrion inner membrane NA PE1 17 +NX_Q02985 330 37323 7.72 0 Secreted Hemolytic uremic syndrome atypical 1 PE1 1 +NX_Q03001 7570 860662 5.14 0 Endoplasmic reticulum membrane;Stress fiber;Cytosol;Hemidesmosome;H zone;Nucleus envelope;Cell membrane;Axon;Nucleus;Cell cortex;Membrane;Cytoskeleton;Z line Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, 6 PE1 6 +NX_Q03013 218 25561 5.6 0 Cytoplasm NA PE1 1 +NX_Q03014 270 30022 6.72 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 10 +NX_Q03052 451 45496 7.29 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q03060 345 37006 5.4 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 10 +NX_Q03111 559 62056 8.75 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q03112 1230 138136 6 0 Nucleus speckle;Nucleus Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 PE1 3 +NX_Q03113 381 44279 9.84 0 Cytosol;Cytoplasm;Cell membrane;Lateral cell membrane NA PE1 7 +NX_Q03135 178 20472 5.64 0 Golgi apparatus;Cytoplasm;Cell membrane;Nucleus;trans-Golgi network;Caveola;Golgi apparatus membrane;Membrane raft Congenital generalized lipodystrophy 3;Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome;Pulmonary hypertension, primary, 3 PE1 7 +NX_Q03154 408 45885 5.77 0 Cytoplasm Aminoacylase-1 deficiency PE1 3 +NX_Q03164 3969 431764 9.22 0 Nucleoplasm;Cytosol;Nucleus Wiedemann-Steiner syndrome PE1 11 +NX_Q03167 851 93499 5.45 1 Cytosol;Extracellular space;Cell membrane;Secreted NA PE1 1 +NX_Q03169 654 72661 6.06 0 Cytosol;Nucleus;Nucleus membrane;Golgi apparatus NA PE1 14 +NX_Q03181 441 49903 7.53 0 Nucleus NA PE1 6 +NX_Q03188 943 106834 9.43 0 Kinetochore;Centromere;Nucleus NA PE1 4 +NX_Q03252 620 69948 5.5 0 Nucleus inner membrane;Nucleus membrane Partial acquired lipodystrophy;Epilepsy, progressive myoclonic 9 PE1 19 +NX_Q03393 145 16386 6.2 0 Cytosol Hyperphenylalaninemia, BH4-deficient, A PE1 11 +NX_Q03395 351 37205 5.65 4 Cytosol;Cell membrane;Membrane Retinitis pigmentosa 7 PE1 11 +NX_Q03403 129 14284 5.51 0 Secreted NA PE1 21 +NX_Q03405 335 36978 6.19 0 Invadopodium membrane;Cell membrane;Secreted NA PE1 19 +NX_Q03426 396 42451 6.02 0 Cytoplasm;Peroxisome Porokeratosis 3, multiple types;Mevalonic aciduria;Hyperimmunoglobulinemia D and periodic fever syndrome PE1 12 +NX_Q03431 593 66361 8.25 7 Cell membrane Jansen metaphyseal chondrodysplasia;Enchondromatosis multiple;Eiken skeletal dysplasia;Primary failure of tooth eruption;Chondrodysplasia Blomstrand type PE1 3 +NX_Q03468 1493 168416 8.28 0 Nucleus De Sanctis-Cacchione syndrome;Cockayne syndrome B;UV-sensitive syndrome 1;Macular degeneration, age-related, 5;Cerebro-oculo-facio-skeletal syndrome 1 PE1 10 +NX_Q03518 808 87218 8.24 10 Endoplasmic reticulum membrane;Endoplasmic reticulum;Microtubule organizing center Bare lymphocyte syndrome 1 PE1 6 +NX_Q03519 686 75664 8.24 9 Endoplasmic reticulum membrane;Nucleus speckle;Endoplasmic reticulum Bare lymphocyte syndrome 1 PE1 6 +NX_Q03591 330 37651 7.39 0 Secreted Hemolytic uremic syndrome atypical 1 PE1 1 +NX_Q03692 680 66158 9.68 0 Endoplasmic reticulum;Extracellular matrix Schmid type metaphyseal chondrodysplasia PE1 6 +NX_Q03701 1054 120974 5.65 0 Cytoplasmic vesicle;Nucleus NA PE1 2 +NX_Q03721 635 69767 6.56 6 Cytosol;Nucleolus;Membrane NA PE1 1 +NX_Q03828 476 47800 9.12 0 Nucleus NA PE2 2 +NX_Q03923 595 68736 9.45 0 Nucleus NA PE1 19 +NX_Q03924 483 56376 9.46 0 Cytosol;Nucleolus;Nucleus NA PE2 7 +NX_Q03933 536 60348 4.7 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 6 +NX_Q03936 586 68487 9.4 0 Nucleus NA PE1 7 +NX_Q03938 601 69058 9.36 0 Nucleus;Golgi apparatus NA PE1 19 +NX_Q03989 594 64074 9.34 0 Nucleolus;Nucleus NA PE1 2 +NX_Q04118 309 30980 10.8 0 Secreted NA PE1 12 +NX_Q04206 551 60219 5.46 0 Cytosol;Cytoplasm;Nucleus NA PE1 11 +NX_Q04323 297 33325 5.23 0 Nucleoplasm;Cytoplasm NA PE1 11 +NX_Q04446 702 80474 5.87 0 Cytosol;Nucleoplasm Glycogen storage disease 4;Polyglucosan body neuropathy, adult form PE1 3 +NX_Q04609 750 84331 6.5 1 Cytoplasm;Cell membrane NA PE1 11 +NX_Q04637 1599 175491 5.25 0 Cytosol Parkinson disease 18 PE1 3 +NX_Q04656 1500 163373 5.92 8 trans-Golgi network membrane;Golgi apparatus;Cytosol;Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane Distal spinal muscular atrophy, X-linked, 3;Occipital horn syndrome;Menkes disease PE1 X +NX_Q04671 838 92850 6.84 12 Melanosome membrane Albinism, oculocutaneous, 2 PE1 15 +NX_Q04695 432 48106 4.97 0 Cytoplasm Steatocystoma multiplex;Pachyonychia congenita 2 PE1 17 +NX_Q04721 2471 265405 4.95 1 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane Hajdu-Cheney syndrome;Alagille syndrome 2 PE1 1 +NX_Q04724 770 83201 6.79 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q04725 743 79841 6.16 0 Focal adhesion;Nucleus NA PE1 19 +NX_Q04726 772 83417 6.72 0 Nucleoplasm;Nucleus NA PE1 15 +NX_Q04727 773 83755 7.2 0 Nucleus NA PE1 9 +NX_Q04741 257 28039 9.85 0 Cytoplasm;Nucleolus;Nucleus NA PE1 2 +NX_Q04743 252 28303 9.83 0 Nucleus Schizencephaly PE1 10 +NX_Q04756 655 70682 6.99 0 Secreted NA PE1 4 +NX_Q04759 706 81865 7.69 0 Cytoplasm;Cell membrane;Microtubule organizing center NA PE1 10 +NX_Q04760 184 20778 5.12 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 6 +NX_Q04771 509 57153 7.12 1 Cytosol;Nucleolus;Membrane Fibrodysplasia ossificans progressiva PE1 2 +NX_Q04826 362 40505 6.09 1 Membrane NA PE1 6 +NX_Q04828 323 36788 8.02 0 Cytoplasm NA PE1 10 +NX_Q04837 148 17260 9.59 0 Mitochondrion;Mitochondrion nucleoid NA PE1 7 +NX_Q04844 493 54697 5.15 4 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 4B, fast-channel;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, 4A, slow-channel PE1 17 +NX_Q04864 619 68520 5.56 0 Nucleus NA PE1 2 +NX_Q04900 197 20917 8.3 1 Endosome;Lysosome membrane;Secreted;Cell membrane;Endosome membrane;Endoplasmic reticulum Deafness, autosomal dominant, 66 PE1 6 +NX_Q04912 1400 152241 6.09 1 Cytosol;Membrane Nasopharyngeal carcinoma, 3 PE1 3 +NX_Q04917 246 28219 4.76 0 Cytoplasm NA PE1 22 +NX_Q04941 152 16691 6.8 4 Membrane NA PE1 X +NX_Q05048 431 48358 6.12 0 Nucleoplasm;Nucleus NA PE1 20 +NX_Q05066 204 23884 9.55 0 Cytoplasm;Nucleus;Nucleus speckle 46,XX sex reversal 1;46,XY sex reversal 1 PE1 Y +NX_Q05084 483 54645 5.55 0 Synaptic vesicle membrane;Cytosol;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus membrane;Secretory vesicle membrane NA PE1 7 +NX_Q05086 875 100688 5.12 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Angelman syndrome PE1 15 +NX_Q05193 864 97408 6.73 0 Nucleoplasm;Cytoplasm;Cytoskeleton Epileptic encephalopathy, early infantile, 31 PE1 9 +NX_Q05195 221 25254 8.68 0 Mitochondrion;Nucleoplasm;Nucleus;Cytosol NA PE1 2 +NX_Q05209 780 88106 5.4 0 Cytosol;Cytoplasm;Focal adhesion;Podosome;Cell membrane NA PE1 7 +NX_Q05215 589 61623 8.74 0 Nucleus NA PE2 2 +NX_Q05315 142 16453 6.83 0 Cytosol;Cytoplasmic granule NA PE1 19 +NX_Q05329 585 65411 6.45 0 Cytosol;Cytoplasmic vesicle;Golgi apparatus membrane;Presynaptic cell membrane NA PE1 10 +NX_Q05397 1052 119233 6.19 0 Cytosol;Cell cortex;Cell membrane;Cytoplasmic vesicle;Focal adhesion;Nucleus;Cytoskeleton;Centrosome NA PE1 8 +NX_Q05469 1076 116598 6.25 0 Cytosol;Caveola;Cell membrane Lipodystrophy, familial partial, 6 PE1 19 +NX_Q05481 1191 137217 9.45 0 Nucleus NA PE1 19 +NX_Q05513 592 67660 5.49 0 Endosome;Cytosol;Cytoplasm;Cell membrane;Membrane;Cell junction NA PE1 1 +NX_Q05516 673 74274 6.02 0 Nuclear body;Nucleus Skeletal defects, genital hypoplasia, and mental retardation PE1 11 +NX_Q05519 484 53542 10.52 0 Nucleus speckle;Nucleus NA PE1 1 +NX_Q05586 938 105373 9.03 3 Postsynaptic density;Postsynaptic cell membrane;Cell membrane Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive PE1 9 +NX_Q05639 463 50470 9.11 0 Nucleus Epileptic encephalopathy, early infantile, 33;Mental retardation, autosomal dominant 38 PE1 20 +NX_Q05655 676 77505 7.93 0 Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Endoplasmic reticulum Autoimmune lymphoproliferative syndrome 3 PE1 3 +NX_Q05682 793 93231 5.62 0 Cytoskeleton;Myofibril;Cell membrane;Stress fiber NA PE1 7 +NX_Q05707 1796 193515 5.16 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 8 +NX_Q05823 741 83533 6.2 0 Cytosol;Cytoplasm;Mitochondrion Prostate cancer, hereditary, 1 PE1 1 +NX_Q05901 458 52729 8.15 4 Postsynaptic cell membrane;Cell membrane NA PE2 8 +NX_Q05923 314 34400 8.24 0 Nucleus;Nucleus membrane NA PE1 2 +NX_Q05925 392 40115 9.55 0 Nucleolus;Nucleus NA PE1 2 +NX_Q05932 587 64609 8.17 0 Mitochondrion matrix;Cytoplasm;Mitochondrion inner membrane NA PE1 9 +NX_Q05940 514 55713 5.69 12 Cytoplasmic vesicle membrane Parkinsonism-dystonia, infantile, 2 PE1 10 +NX_Q05952 138 15641 11.59 0 Nucleus;Chromosome NA PE1 16 +NX_Q05996 745 82357 6 1 Cell membrane;Extracellular matrix NA PE1 16 +NX_Q05BQ5 628 70547 7.96 0 Cytosol;Nucleus NA PE1 17 +NX_Q05BU3 40 4003 11.83 0 NA NA PE5 3 +NX_Q05BV3 1969 219427 7.87 0 Cytoskeleton NA PE1 14 +NX_Q05C16 580 66309 9.26 0 Golgi apparatus NA PE2 13 +NX_Q05D32 466 52999 6.03 0 Nucleoplasm NA PE1 15 +NX_Q05D60 604 70977 5.87 0 Cytoplasm NA PE1 11 +NX_Q05DH4 1040 116621 4.76 0 Cytosol NA PE1 4 +NX_Q06033 890 99849 5.49 0 Secreted NA PE1 3 +NX_Q06055 141 14637 9.26 2 Mitochondrion membrane NA PE1 12 +NX_Q06124 597 68436 6.87 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus Metachondromatosis;Leukemia, juvenile myelomonocytic;LEOPARD syndrome 1;Noonan syndrome 1 PE1 12 +NX_Q06136 332 36187 6.75 2 Endoplasmic reticulum membrane Erythrokeratodermia variabilis et progressiva 4 PE1 18 +NX_Q06141 175 19395 7.56 0 Secreted NA PE1 2 +NX_Q06187 659 76281 7.83 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cell membrane X-linked agammaglobulinemia;X-linked hypogammaglobulinemia and isolated growth hormone deficiency PE1 X +NX_Q06190 1150 130278 5.09 0 Golgi apparatus NA PE1 3 +NX_Q06203 517 57399 6.3 0 Midbody ring NA PE1 4 +NX_Q06210 699 78806 6.66 0 Nucleolus;Nucleus Myasthenic syndrome, congenital, 12 PE1 2 +NX_Q06250 92 10039 11.65 0 NA NA PE5 11 +NX_Q06265 439 48949 5.19 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Pontocerebellar hypoplasia 1D PE1 4 +NX_Q06278 1338 147918 6.79 0 Cytoplasm NA PE1 2 +NX_Q06323 249 28723 5.78 0 NA NA PE1 14 +NX_Q06330 500 55637 6.8 0 Nucleoplasm;Cytoplasm;Nucleus Adams-Oliver syndrome 3 PE1 4 +NX_Q06413 473 51221 8.14 0 Cytoplasmic vesicle;Nucleoplasm;Sarcoplasm;Nucleus Mental retardation, autosomal dominant 20 PE1 5 +NX_Q06416 359 38588 6.26 0 Nucleus NA PE5 8 +NX_Q06418 890 96905 5.47 1 Cell membrane NA PE1 15 +NX_Q06432 222 25028 6.64 4 Sarcolemma NA PE1 17 +NX_Q06455 604 67566 8.15 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q06481 763 86956 4.73 1 Cytoplasmic vesicle;Nucleus;Cell membrane NA PE1 11 +NX_Q06495 639 68937 8.99 8 Nucleus speckle;Spindle;Apical cell membrane;Cell membrane Hypercalcemia, infantile, 2;Fanconi renotubular syndrome 2;Nephrolithiasis/osteoporosis, hypophosphatemic, 1 PE1 5 +NX_Q06520 285 33780 5.71 0 Cytosol;Cytoplasm NA PE1 19 +NX_Q06546 454 51295 4.87 0 Nucleoplasm;Nucleus NA PE1 21 +NX_Q06547 395 42483 4.77 0 Cytosol;Nucleoplasm;Nucleus NA PE1 15 +NX_Q06587 406 42429 5.44 0 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm NA PE1 6 +NX_Q06609 339 36966 5.44 0 Nucleolus;Cytosol;Cytoplasm;Mitochondrion;Perinuclear region;Nucleus;Mitochondrion matrix;Centrosome;Chromosome Fanconi anemia, complementation group R;Breast cancer;Mirror movements 2 PE1 15 +NX_Q06643 244 25390 5.25 1 Centrosome;Membrane NA PE1 6 +NX_Q06710 450 48218 7.72 0 Nucleoplasm;Nucleus Hypothyroidism, congenital, non-goitrous, 2 PE1 2 +NX_Q06730 810 94384 8.42 0 Nucleus NA PE1 10 +NX_Q06732 778 90683 8.6 0 Nucleus NA PE1 10 +NX_Q06787 632 71174 7 0 Perikaryon;Presynaptic cell membrane;Centromere;Cajal body;Stress granule;Perinuclear region;Postsynaptic cell membrane;Nucleus;Growth cone;Synaptosome;Synapse;Nucleolus;Filopodium tip;Dendritic spine;Cytosol;Cytoplasm;Cytoplasmic ribonucleoprotein granule;Cell membrane;Axon;Dendrite;Cell projection;Chromosome Premature ovarian failure 1;Fragile X syndrome;Fragile X tremor/ataxia syndrome PE1 X +NX_Q06828 376 43179 5.66 0 Extracellular matrix NA PE1 1 +NX_Q06830 199 22110 8.27 0 Mitochondrion;Cytoplasm;Melanosome NA PE1 1 +NX_Q06889 387 42613 8.62 0 Cytoplasmic vesicle;Nucleus NA PE1 8 +NX_Q06945 474 47263 6.87 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 6 +NX_Q07000 366 40863 5.92 1 Membrane NA PE1 6 +NX_Q07001 517 58895 6.12 4 Cytosol;Nucleoplasm;Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 3B, fast-channel;Multiple pterygium syndrome, lethal type;Myasthenic syndrome, congenital, 3A, slow-channel;Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency PE1 2 +NX_Q07002 474 54424 8.84 0 Cytoskeleton NA PE1 1 +NX_Q07011 255 27899 8.12 1 Nucleolus;Cell membrane;Membrane NA PE1 1 +NX_Q07020 188 21634 11.73 0 Rough endoplasmic reticulum;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleolus;Nucleus NA PE1 19 +NX_Q07021 282 31362 4.74 0 Nucleolus;Secreted;Cytoplasm;Cell membrane;Mitochondrion matrix;Nucleus;Mitochondrion Combined oxidative phosphorylation deficiency 33 PE1 17 +NX_Q07065 602 66022 5.63 1 Endoplasmic reticulum membrane;Nucleus speckle;Cytosol;Cell membrane;Perinuclear region;Cytoskeleton NA PE1 12 +NX_Q07075 957 109244 5.31 1 Cell membrane;Endoplasmic reticulum NA PE1 4 +NX_Q07092 1604 157751 8.14 0 Cytosol;Cell membrane;Golgi apparatus;Extracellular matrix NA PE1 1 +NX_Q07108 199 22559 6.16 1 Membrane NA PE1 12 +NX_Q07157 1748 195459 6.24 0 Gap junction;Golgi apparatus;Cell membrane;Podosome;Cell junction;Tight junction NA PE1 15 +NX_Q07283 1943 253925 5.73 0 NA Uncombable hair syndrome 3 PE1 1 +NX_Q07325 125 14019 10.39 0 Secreted NA PE1 4 +NX_Q07326 219 24890 8.88 6 Endoplasmic reticulum membrane NA PE1 2 +NX_Q07343 736 83343 5.09 0 Cytosol;Golgi apparatus NA PE1 1 +NX_Q07352 338 36314 8.12 0 Cytoplasm;P-body;Nucleus;Cytoplasmic granule NA PE1 14 +NX_Q07444 240 27100 8.36 1 Cytoplasmic vesicle;Membrane NA PE2 12 +NX_Q07507 201 24005 4.7 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 1 +NX_Q075Z2 132 15693 6.8 0 Secreted NA PE1 19 +NX_Q07617 926 103639 6.46 0 Cytosol;Cytoplasm Ciliary dyskinesia, primary, 28 PE1 8 +NX_Q07627 177 18235 5.55 0 NA NA PE2 17 +NX_Q07654 94 10181 6.52 0 Cytoplasm;Nucleolus;Nucleus;Extracellular matrix NA PE1 21 +NX_Q07666 443 48227 8.73 0 Nucleoplasm;Cytoplasm;Nucleus;Membrane NA PE1 1 +NX_Q07687 328 34243 9.25 0 Nucleus speckle;Nucleus NA PE1 2 +NX_Q07699 218 24707 4.88 1 Cell membrane;Secreted Atrial fibrillation, familial, 13;Brugada syndrome 5;Epileptic encephalopathy, early infantile, 52;Generalized epilepsy with febrile seizures plus 1 PE1 19 +NX_Q07812 192 21184 5.08 1 Cytoplasm;Mitochondrion outer membrane NA PE1 19 +NX_Q07817 233 26049 4.86 1 Synaptic vesicle membrane;Nucleus membrane;Cytosol;Mitochondrion outer membrane;Mitochondrion;Mitochondrion inner membrane;Mitochondrion matrix;Centrosome NA PE1 20 +NX_Q07820 350 37337 5.51 1 Mitochondrion;Cytoplasm;Nucleoplasm;Membrane NA PE1 1 +NX_Q07837 685 78852 5.61 1 Mitochondrion;Nucleus;Membrane Hypotonia-cystinuria syndrome;Cystinuria PE1 2 +NX_Q07864 2286 261518 5.98 0 Nucleus;Cell membrane Colorectal cancer 12;Facial dysmorphism, immunodeficiency, livedo, and short stature PE1 12 +NX_Q07866 573 65310 5.87 0 Nucleoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol;Cytoskeleton;Growth cone NA PE1 14 +NX_Q07869 468 52225 5.86 0 Nucleus NA PE1 22 +NX_Q07889 1333 152464 6.38 0 Cytosol;Nucleolus;Nucleus Noonan syndrome 4;Fibromatosis, gingival, 1 PE1 2 +NX_Q07890 1332 152979 6.39 0 Cytoplasmic vesicle;Nucleoplasm Noonan syndrome 9 PE1 14 +NX_Q07912 1038 114569 6.84 0 Endosome;Cytosol;Clathrin-coated pit;Cell membrane;Perinuclear region;Nucleus;Adherens junction;Cytoplasmic vesicle membrane;Clathrin-coated vesicle NA PE1 3 +NX_Q07954 4544 504606 5.16 1 Nucleoplasm;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Coated pit;Nucleus Keratosis pilaris atrophicans PE1 12 +NX_Q07955 248 27745 10.37 0 Nucleoplasm;Nucleus speckle;Cytoplasm NA PE1 17 +NX_Q07960 439 50436 5.85 0 Cytoplasmic vesicle;Cytoplasm NA PE1 11 +NX_Q07973 514 58875 8.94 0 Mitochondrion;Nucleoplasm;Cell membrane Hypercalcemia, infantile, 1 PE1 20 +NX_Q08043 901 103241 5.37 0 NA NA PE1 11 +NX_Q08050 763 84283 8 0 Cytosol;Nucleolus;Nucleus NA PE1 12 +NX_Q08116 209 23858 8.8 0 Cytosol;Cell membrane NA PE1 1 +NX_Q08117 197 21970 5.9 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q08170 494 56678 11.52 0 Nucleus speckle NA PE1 1 +NX_Q08174 1060 114743 4.91 1 Nucleolus;Nucleus;Cell junction;Cell membrane NA PE1 5 +NX_Q08188 693 76632 5.62 0 Cytoplasm Uncombable hair syndrome 2 PE1 20 +NX_Q08209 521 58688 5.58 0 Sarcolemma;Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Dendritic spine;Z line Epileptic encephalopathy, infantile or early childhood, 1 PE1 4 +NX_Q08211 1270 140958 6.41 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Centrosome NA PE1 1 +NX_Q08257 329 35207 8.56 0 Cytosol;Cytoplasm NA PE1 1 +NX_Q08289 660 73581 8.11 0 Sarcolemma Brugada syndrome 4 PE1 10 +NX_Q08334 325 36995 5.03 1 Cytosol;Membrane Inflammatory bowel disease 25 PE1 21 +NX_Q08345 913 101128 6.38 1 Nucleoplasm;Cell junction;Cell membrane;Secreted NA PE1 6 +NX_Q08357 652 70392 6.09 12 Cytoplasm;Cell membrane Basal ganglia calcification, idiopathic, 1 PE1 8 +NX_Q08378 1498 167355 5.34 0 Cytoplasm;Nucleus;Golgi apparatus;Golgi stack membrane NA PE1 12 +NX_Q08379 1002 113086 5 0 cis-Golgi network membrane;Spindle pole;Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 9 +NX_Q08380 585 65331 5.13 0 Extracellular matrix;Secreted NA PE1 17 +NX_Q08397 574 63110 7.25 0 Extracellular space;Endoplasmic reticulum Exfoliation syndrome PE1 15 +NX_Q08426 723 79495 9.24 0 Peroxisome Fanconi renotubular syndrome 3 PE1 3 +NX_Q08431 387 43105 8.47 0 Cytosol;Cytoplasm;Membrane;Nucleus;Secreted NA PE1 15 +NX_Q08462 1091 123603 8.4 12 Cytoplasm;Cell membrane;Membrane NA PE1 5 +NX_Q08477 520 59847 7.57 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 19 +NX_Q08493 712 79902 5.06 0 Cilium NA PE1 19 +NX_Q08495 405 45514 8.94 0 Cytosol;Cytoplasm;Cell membrane;Endomembrane system;Perinuclear region;Membrane;Cytoskeleton;Cell projection NA PE1 8 +NX_Q08499 809 91115 5.31 0 Apical cell membrane;Nucleus membrane;Cytosol;Cytoplasm;Cell membrane;Membrane;Cytoskeleton;Centrosome Acrodysostosis 2, with or without hormone resistance PE1 5 +NX_Q08554 894 99987 5.25 1 Desmosome;Cell membrane NA PE1 18 +NX_Q08623 228 25249 5.18 0 NA NA PE1 X +NX_Q08629 439 49124 5.74 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 5 +NX_Q08648 103 11431 11.49 0 Secreted NA PE1 8 +NX_Q08708 224 24830 9.38 1 Cell membrane NA PE2 17 +NX_Q08722 323 35214 6.82 5 Cytoplasmic vesicle;Golgi apparatus;Cell membrane NA PE1 3 +NX_Q08752 370 40764 6.77 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Nucleoplasm NA PE1 4 +NX_Q08828 1119 123440 8.77 12 Mitochondrion;Cytoplasm;Membrane raft;Cell membrane;Membrane Deafness, autosomal recessive, 44 PE1 7 +NX_Q08830 312 36379 5.58 0 Secreted NA PE1 8 +NX_Q08881 620 71831 7.51 0 Cytoplasm;Nucleus Lymphoproliferative syndrome 1 PE1 5 +NX_Q08945 709 81075 6.45 0 Cytosol;Nucleolus;Nucleus;Chromosome NA PE1 11 +NX_Q08999 1139 128367 7.27 0 Cytosol;Nucleolus;Nucleus NA PE1 16 +NX_Q08AD1 1489 168089 6.36 0 Cytosol;Cytoskeleton;Golgi apparatus NA PE1 1 +NX_Q08AE8 756 85544 8.89 0 Endosome;Nucleoplasm;Cell membrane;Cytosol;Perinuclear region;Cytoplasmic vesicle membrane;Cytoskeleton NA PE1 18 +NX_Q08AF3 891 101055 8.54 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 17 +NX_Q08AF8 430 48405 5.41 0 NA NA PE5 15 +NX_Q08AG5 666 76934 9.14 0 Nucleus NA PE1 19 +NX_Q08AG7 82 8479 4.76 0 Spindle;Centrosome NA PE1 13 +NX_Q08AH1 577 65273 8.54 0 Mitochondrion matrix NA PE1 16 +NX_Q08AH3 577 64223 8.34 0 Mitochondrion matrix NA PE1 16 +NX_Q08AI6 406 44825 6.12 10 Membrane NA PE2 2 +NX_Q08AI8 447 49565 6.02 0 Nucleoplasm;Golgi apparatus NA PE1 2 +NX_Q08AM6 782 87973 5.76 0 Cytoplasmic vesicle;Endosome membrane;Cytosol;Microsome membrane Striatonigral degeneration, childhood-onset PE1 16 +NX_Q08AN1 781 90273 9.66 0 Nucleus;Centrosome NA PE1 19 +NX_Q08E93 113 13507 11.89 0 NA NA PE1 9 +NX_Q08ER8 600 68404 8.18 0 Cytosol;Nucleus speckle;Nucleus NA PE1 19 +NX_Q08ET2 396 43970 8.24 1 Cell membrane NA PE1 19 +NX_Q08J23 767 86471 6.33 0 Spindle;Nucleolus;Nucleus Mental retardation, autosomal recessive 5 PE1 5 +NX_Q09013 629 69385 4.92 1 Endoplasmic reticulum membrane;Nucleus outer membrane;Cytosol;Sarcoplasmic reticulum membrane;Cell membrane;Mitochondrion outer membrane;Cytoplasmic vesicle;Mitochondrion membrane Dystrophia myotonica 1 PE1 19 +NX_Q09019 674 70438 6.9 0 Perikaryon;Cytoskeleton;Nucleus;Cell membrane;Dendrite NA PE1 19 +NX_Q09028 425 47656 4.74 0 Nucleus NA PE1 1 +NX_Q09160 365 40792 5.9 1 Membrane NA PE1 6 +NX_Q09161 790 91839 5.99 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 9 +NX_Q09327 533 61313 8.54 1 Golgi apparatus membrane NA PE1 22 +NX_Q09328 741 84543 8.41 1 Golgi apparatus membrane;Secreted NA PE1 2 +NX_Q09428 1581 176992 7.99 17 Cytosol;Nucleolus;Golgi apparatus;Cell membrane Transient neonatal diabetes mellitus 2;Diabetes mellitus, permanent neonatal;Leucine-induced hypoglycemia;Familial hyperinsulinemic hypoglycemia 1 PE1 11 +NX_Q09470 495 56466 5.08 6 Axon;Synapse;Perikaryon;Endoplasmic reticulum;Cytoplasmic vesicle;Dendrite;Cell membrane;Presynaptic cell membrane;Membrane;Cell junction Episodic ataxia 1;Myokymia isolated 1 PE1 12 +NX_Q09472 2414 264161 8.81 0 Nucleoplasm;Cytoplasm;Nucleus;Chromosome Rubinstein-Taybi syndrome 2 PE1 22 +NX_Q09666 5890 629101 5.8 0 Cytosol;Nucleus;Cell membrane NA PE1 11 +NX_Q09FC8 603 68798 9.16 0 Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA PE1 19 +NX_Q09MP3 1159 133907 7.11 0 NA NA PE1 2 +NX_Q0D2H9 430 48423 5.41 0 NA NA PE5 15 +NX_Q0D2I5 559 61979 4.83 0 NA NA PE1 12 +NX_Q0D2J5 394 46099 9.32 0 Nucleus NA PE2 19 +NX_Q0D2K0 466 50058 7.09 9 Membrane Ichthyosis, congenital, autosomal recessive 6 PE1 5 +NX_Q0D2K2 578 63976 5.59 0 Microtubule organizing center NA PE1 2 +NX_Q0D2K3 151 16379 4.32 0 Nucleus NA PE1 X +NX_Q0D2K5 195 21632 8.36 0 NA NA PE5 3 +NX_Q0GE19 340 37432 9.68 10 Endoplasmic reticulum membrane;Nucleolus;Cell membrane NA PE1 4 +NX_Q0IIM8 1120 128709 5.66 0 Cytosol NA PE1 X +NX_Q0IIN9 211 22478 8.78 0 NA NA PE5 8 +NX_Q0JRZ9 810 88924 6.42 0 Cytoplasmic vesicle;Cytosol;Clathrin-coated pit;Centrosome NA PE1 5 +NX_Q0P140 79 8416 4.93 0 NA NA PE5 1 +NX_Q0P5N6 197 20936 8.57 0 NA NA PE1 17 +NX_Q0P5P2 114 13463 9.39 0 Secreted NA PE1 17 +NX_Q0P641 193 22038 9.47 0 Golgi apparatus NA PE2 2 +NX_Q0P651 414 46954 9.37 0 Nucleus membrane;Secreted NA PE1 4 +NX_Q0P670 501 57131 9.69 1 Membrane NA PE1 17 +NX_Q0P6D2 419 46420 6.38 1 Endoplasmic reticulum membrane NA PE1 18 +NX_Q0P6D6 951 110484 6.05 0 Cytosol;Cell membrane NA PE1 11 +NX_Q0P6H9 643 73133 9.34 6 Cytosol;Nucleolus;Nucleus;Membrane NA PE1 15 +NX_Q0PNE2 266 29793 6.36 0 Cytosol;Nucleus;Centrosome NA PE1 3 +NX_Q0VAA2 488 54535 5.22 0 NA NA PE1 14 +NX_Q0VAA5 305 34777 9.51 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q0VAF6 134 14405 8.11 0 Secretory vesicle membrane NA PE1 19 +NX_Q0VAK6 560 64914 5.42 0 A band;Cytoplasm;Cytoskeleton;M line Nemaline myopathy 10 PE1 3 +NX_Q0VAM2 473 55359 8.19 0 Nucleoplasm;Cytoplasmic vesicle;Late endosome;Midbody;Early endosome NA PE1 4 +NX_Q0VAQ4 97 10679 4.21 1 Nucleoplasm;Cytoplasmic vesicle membrane;Cell membrane NA PE1 12 +NX_Q0VD83 1088 114874 4.38 0 Cell membrane NA PE1 16 +NX_Q0VD86 236 26817 6.92 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 17 +NX_Q0VDD5 57 6478 11.21 0 NA NA PE5 17 +NX_Q0VDD7 668 69556 4.71 0 Nucleoplasm NA PE1 19 +NX_Q0VDD8 3507 399895 6.52 0 Centrosome;Cilium axoneme NA PE1 1 +NX_Q0VDE8 80 9465 4.68 1 Nucleus;Membrane NA PE2 20 +NX_Q0VDF9 509 54794 5.41 0 Cytosol NA PE1 10 +NX_Q0VDG4 424 48544 5.38 0 Cytoplasmic vesicle;Cytosol NA PE1 2 +NX_Q0VDI3 215 24217 8.91 3 Nucleoplasm;Membrane NA PE1 5 +NX_Q0VF49 1180 135305 8.53 0 NA NA PE1 2 +NX_Q0VF96 1302 149079 5.51 0 Cell junction;Tight junction Aromatase excess syndrome PE1 15 +NX_Q0VFX4 171 18056 8.78 0 NA NA PE2 12 +NX_Q0VFZ6 552 66403 8.92 0 NA NA PE1 2 +NX_Q0VG06 881 93433 5.12 0 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus NA PE1 17 +NX_Q0VG73 95 10763 6.38 0 NA NA PE5 3 +NX_Q0VG99 397 41760 7.05 0 Nucleus Spondylocostal dysostosis 2, autosomal recessive PE1 15 +NX_Q0VGE8 651 75725 9.44 0 Nucleolus;Nucleus NA PE1 19 +NX_Q0VGL1 99 10741 6.07 0 Cytoplasmic vesicle;Lysosome NA PE1 7 +NX_Q0WX57 530 59711 8.35 0 Nucleolus;Endoplasmic reticulum NA PE1 4 +NX_Q0Z7S8 132 15093 7.79 0 Cytoplasm NA PE1 8 +NX_Q0ZGT2 675 80658 5.31 0 Cytoplasm;Cytoskeleton;Z line;Cell membrane;Adherens junction Cardiomyopathy, dilated 1CC;Cardiomyopathy, familial hypertrophic 20 PE1 1 +NX_Q0ZLH3 352 39913 9.18 0 Mitochondrion Deafness, autosomal recessive, 59 PE1 2 +NX_Q10469 447 51550 8.99 1 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2A PE1 14 +NX_Q10471 571 64733 8.63 1 Golgi stack membrane;Golgi apparatus;Secreted NA PE1 1 +NX_Q10472 559 64219 7.83 1 Golgi stack membrane;Secreted NA PE1 18 +NX_Q10567 949 104637 4.94 0 Cytoplasmic vesicle;Clathrin-coated vesicle membrane;Golgi apparatus NA PE1 22 +NX_Q10570 1443 160884 5.99 0 Nucleoplasm NA PE1 8 +NX_Q10571 1320 136001 6.22 0 Nucleoplasm NA PE1 22 +NX_Q10586 325 34349 9.34 0 Nucleus NA PE1 19 +NX_Q10587 303 33248 5.81 0 Nucleus NA PE1 22 +NX_Q10588 318 35724 7.97 0 Cell membrane NA PE1 4 +NX_Q10589 180 19769 5.43 1 Apical cell membrane;Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Late endosome;trans-Golgi network;Membrane raft NA PE1 19 +NX_Q10713 525 58253 6.45 0 Mitochondrion matrix;Mitochondrion;Mitochondrion inner membrane Spinocerebellar ataxia, autosomal recessive, 2 PE1 9 +NX_Q107X0 134 14401 9.73 0 Cytoplasm;Nucleus NA PE5 19 +NX_Q10981 343 39017 8.69 1 Cytosol;Golgi stack membrane;Cell membrane NA PE1 19 +NX_Q11128 374 43008 8.54 1 Golgi stack membrane NA PE2 19 +NX_Q11130 342 39239 10.07 1 Golgi stack membrane;Golgi apparatus NA PE1 9 +NX_Q11201 340 39075 9.21 1 Golgi stack membrane;Secreted NA PE1 8 +NX_Q11203 375 42171 9.1 1 Golgi stack membrane;Secreted Epileptic encephalopathy, early infantile, 15;Mental retardation, autosomal recessive 12 PE1 1 +NX_Q11206 333 38045 9.45 1 Golgi stack membrane;Secreted NA PE1 11 +NX_Q12756 1690 191064 5.86 0 Cytosol;Cytoskeleton;Microtubule organizing center Mental retardation, autosomal dominant 9;Spastic paraplegia 30, autosomal recessive;Neuropathy, hereditary sensory, 2C PE1 2 +NX_Q12765 414 46382 4.66 0 Cytosol;Cytoplasm NA PE1 7 +NX_Q12766 1538 168334 8.39 0 Nucleolus;Nucleus NA PE1 5 +NX_Q12767 1356 151151 5.99 10 Membrane NA PE1 17 +NX_Q12768 1159 134286 6.54 0 Cytosol;Nucleoplasm;Endoplasmic reticulum;Early endosome Spastic paraplegia 8, autosomal dominant;Ritscher-Schinzel syndrome 1 PE1 8 +NX_Q12769 1436 162121 5.31 0 Nuclear pore complex NA PE1 11 +NX_Q12770 1279 139729 6.41 8 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Golgi apparatus membrane NA PE1 3 +NX_Q12772 1141 123688 8.72 2 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Mitochondrion;Golgi apparatus membrane NA PE1 22 +NX_Q12774 1597 176799 5.37 0 Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus;Podosome NA PE1 7 +NX_Q12778 655 69662 6.28 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Rhabdomyosarcoma 2 PE1 13 +NX_Q12788 808 89035 6.44 0 Nucleolus NA PE1 16 +NX_Q12789 2109 238875 7.01 0 Nucleolus;Nucleus NA PE1 16 +NX_Q12791 1236 137560 6.66 7 Cell membrane Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PE1 10 +NX_Q12792 350 40283 6.48 0 Cytosol;Cytoplasm;Cytoskeleton NA PE1 12 +NX_Q12794 435 48368 6.31 0 Secreted;Lysosome Mucopolysaccharidosis 9 PE1 3 +NX_Q12796 327 35225 10.51 0 Nucleolus;Nucleus NA PE1 6 +NX_Q12797 758 85863 4.92 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Sarcoplasmic reticulum membrane Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs PE1 8 +NX_Q12798 172 19570 4.79 0 Centrosome NA PE1 18 +NX_Q12799 353 38267 8.46 0 NA NA PE1 6 +NX_Q12800 502 57256 5.53 0 Nucleoplasm;Cytosol;Nucleus NA PE1 12 +NX_Q12802 2813 307550 5.12 0 Cytosol;Cytoplasm;Nucleus;Cell cortex;Membrane NA PE1 15 +NX_Q12805 493 54641 4.95 0 Mitochondrion;Extracellular space;Extracellular matrix Doyne honeycomb retinal dystrophy PE1 2 +NX_Q12809 1159 126655 8.2 6 Cell membrane Short QT syndrome 1;Long QT syndrome 2 PE1 7 +NX_Q12815 778 83857 7.2 0 Cytoplasm NA PE1 12 +NX_Q12816 1431 143716 9.18 0 Nucleolus;Nucleus NA PE1 X +NX_Q12824 385 44141 5.86 0 Nucleoplasm;Nucleolus;Nucleus Rhabdoid tumor predisposition syndrome 1;Schwannomatosis 1;Coffin-Siris syndrome 3 PE1 22 +NX_Q12829 278 30956 9.68 0 Cell membrane NA PE1 17 +NX_Q12830 3046 338262 6.15 0 Cytoplasm;Nucleus Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PE1 17 +NX_Q12834 499 54723 9.33 0 Cytosol;Nucleus;Centrosome;Spindle pole NA PE1 1 +NX_Q12836 540 59400 6.23 1 Cell membrane;Extracellular matrix NA PE1 1 +NX_Q12837 409 43087 9.33 0 Nucleus speckle;Nucleus;Cytoplasm NA PE1 4 +NX_Q12840 1032 117378 5.65 0 Cytosol;Cytoskeleton;Spindle;Perinuclear region;Nucleoplasm Myoclonus, intractable, neonatal;Amyotrophic lateral sclerosis 25;Spastic paraplegia 10, autosomal dominant PE1 12 +NX_Q12841 308 34986 5.39 0 Cytosol;Cytoplasmic vesicle;Secreted NA PE1 3 +NX_Q12846 297 34180 5.92 1 Cell membrane NA PE1 16 +NX_Q12849 480 53126 5.83 0 Mitochondrion;Cytoplasm;Mitochondrion nucleoid NA PE1 4 +NX_Q12851 820 91556 5.91 0 Cytoplasmic vesicle;Cytoplasm;Basolateral cell membrane;Golgi apparatus membrane NA PE1 11 +NX_Q12852 859 93219 6.03 0 Cytoplasm;Nucleus;Cell junction;Cell membrane NA PE1 12 +NX_Q12857 509 55944 8.66 0 Nucleoplasm;Nucleus Brain malformations with or without urinary tract defects PE1 1 +NX_Q12860 1018 113320 5.62 0 Cell membrane Myopathy, congenital, Compton-North PE1 12 +NX_Q12864 832 92219 4.99 1 Cell junction;Cell membrane NA PE1 8 +NX_Q12866 999 110249 5.51 1 Cytosol;Cell membrane;Endoplasmic reticulum;Membrane Retinitis pigmentosa 38 PE1 2 +NX_Q12870 199 20816 9.97 0 Nucleus speckle;Nucleus NA PE2 20 +NX_Q12872 951 104822 8.11 0 Cytosol;Nucleus;Cell membrane NA PE1 12 +NX_Q12873 2000 226592 6.92 0 Nucleolus;Nucleus;Centrosome;Microtubule organizing center NA PE1 17 +NX_Q12874 501 58849 5.27 0 Nucleoplasm;Nucleus speckle NA PE1 1 +NX_Q12879 1464 165283 6.67 3 Postsynaptic cell membrane;Cell membrane Epilepsy, focal, with speech disorder and with or without mental retardation PE1 16 +NX_Q12882 1025 111401 6.8 0 Cytoplasm Dihydropyrimidine dehydrogenase deficiency PE1 1 +NX_Q12884 760 87713 6.21 1 Invadopodium membrane;Secreted;Cytoplasm;Cell membrane;Lamellipodium membrane;Ruffle membrane;Membrane;Cell surface NA PE1 2 +NX_Q12887 443 48910 9.36 7 Cytosol;Mitochondrion;Nucleolus;Mitochondrion membrane Mitochondrial complex IV deficiency;Leigh syndrome PE1 17 +NX_Q12888 1972 213574 4.62 0 Kinetochore;Nucleoplasm;Nucleus;Chromosome NA PE1 15 +NX_Q12889 678 75421 8.9 0 Secretory vesicle NA PE1 1 +NX_Q12891 473 53860 8.47 0 Cell membrane NA PE1 3 +NX_Q12893 351 38197 8.31 4 Golgi stack membrane;Golgi apparatus NA PE1 3 +NX_Q12894 506 54814 8.21 0 Nucleoplasm NA PE1 3 +NX_Q12899 539 62166 4.98 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 6 +NX_Q12901 538 62081 8.81 0 Nucleoplasm;Cytosol;Nucleus NA PE1 19 +NX_Q12904 312 34353 8.61 0 Cytosol;Nucleus;Golgi apparatus;Endoplasmic reticulum;Secreted Leukodystrophy, hypomyelinating, 3 PE1 4 +NX_Q12905 390 43062 5.19 0 Cytoplasm;Nucleolus;Nucleus NA PE1 1 +NX_Q12906 894 95338 8.86 0 Mitochondrion;Cytoplasm;Nucleolus;Nucleus;Nucleoplasm NA PE1 19 +NX_Q12907 356 40229 6.46 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 5 +NX_Q12908 348 37714 6.79 7 Membrane Primary bile acid malabsorption PE1 13 +NX_Q12912 555 62122 5.62 1 Endoplasmic reticulum membrane;Cytosol;Cytoplasm;Nucleus envelope;Centrosome;Cytoplasmic vesicle;Nucleus;Membrane;Spindle pole;Chromosome NA PE1 12 +NX_Q12913 1337 145941 5.38 1 Cell membrane;Cell junction;Ruffle membrane NA PE1 11 +NX_Q12918 225 25415 5.95 1 Cytosol;Nucleoplasm;Membrane NA PE1 12 +NX_Q12923 2485 276906 5.99 0 Cytosol;Lamellipodium;Cytoskeleton;Nucleus;Cell membrane NA PE1 4 +NX_Q12926 359 39504 9.22 0 NA NA PE1 9 +NX_Q12929 822 91882 7.1 0 Synaptosome;Golgi apparatus;Stereocilium;Cell cortex;Ruffle membrane;Growth cone Deafness, autosomal recessive, 102 PE1 12 +NX_Q12931 704 80110 8.3 0 Mitochondrion matrix;Mitochondrion;Mitochondrion inner membrane NA PE1 16 +NX_Q12933 501 55859 7.66 0 Cytosol;Cytoplasm NA PE1 9 +NX_Q12934 665 74544 5.09 0 Cytosol;Cytoskeleton;Cell cortex;Cell membrane Cataract 33, multiple types PE1 20 +NX_Q12946 379 40122 9.24 0 Nucleoplasm;Nucleus Alveolar capillary dysplasia with misalignment of pulmonary veins PE1 16 +NX_Q12947 444 45993 9.2 0 Nucleus NA PE1 6 +NX_Q12948 553 56789 8.7 0 Nucleoplasm;Cytosol;Nucleus Axenfeld-Rieger syndrome 3;Anterior segment dysgenesis 3 PE1 6 +NX_Q12950 439 47309 9.38 0 Nucleus NA PE2 9 +NX_Q12951 378 40973 5.89 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA PE1 5 +NX_Q12952 345 36490 9.64 0 Nucleus NA PE1 16 +NX_Q12955 4377 480410 6.07 0 Golgi apparatus;Lysosome;Cell membrane;Axon;Postsynaptic cell membrane;Sarcolemma;Cytoskeleton Mental retardation, autosomal recessive 37 PE1 10 +NX_Q12959 904 100455 5.51 0 Endoplasmic reticulum membrane;Synapse;Apical cell membrane;Basolateral cell membrane;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Sarcolemma;Membrane;Postsynaptic density;Cell junction NA PE1 3 +NX_Q12962 218 21711 6.12 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q12965 1108 127062 9.01 0 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Clathrin-coated vesicle;Cell junction Focal segmental glomerulosclerosis 6 PE1 15 +NX_Q12967 914 100607 5.52 0 Cytoplasm;Nucleus NA PE1 9 +NX_Q12968 1075 115594 5.91 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 16 +NX_Q12972 351 38479 6.87 0 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA PE1 1 +NX_Q12974 167 19127 8.67 0 Cytoplasm;Cell membrane;Early endosome NA PE1 1 +NX_Q12979 859 97598 6.12 0 Cytosol;Nucleoplasm NA PE1 17 +NX_Q12980 569 63605 6.5 0 Cytosol;Lysosome membrane Epilepsy, familial focal, with variable foci 3 PE1 16 +NX_Q12981 228 26132 9.06 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Mitochondrion membrane NA PE1 5 +NX_Q12982 314 36018 4.7 0 Cytoplasm;Perinuclear region NA PE1 15 +NX_Q12983 259 27832 6.66 1 Cytosol;Mitochondrion;Mitochondrion outer membrane NA PE1 10 +NX_Q12986 1120 124395 8.67 0 Cytosol;Nucleus NA PE1 9 +NX_Q12988 150 16966 5.66 0 Cytoplasm;Nucleus Neuronopathy, distal hereditary motor, 2C PE1 5 +NX_Q12996 717 82922 8.26 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q12999 210 23053 8.3 4 Membrane NA PE1 12 +NX_Q13002 908 102583 8.05 3 Postsynaptic cell membrane;Cell membrane Mental retardation, autosomal recessive 6 PE1 6 +NX_Q13003 919 104037 7.28 3 Postsynaptic cell membrane;Cell membrane NA PE1 1 +NX_Q13007 206 23825 8.95 0 Secreted NA PE1 1 +NX_Q13009 1591 177508 6.17 0 Nucleolus;Nucleus membrane;Cytosol;Cell membrane;Nucleus;Cytoskeleton;Cell junction NA PE1 21 +NX_Q13011 328 35816 8.16 0 Mitochondrion;Peroxisome NA PE1 19 +NX_Q13015 90 10061 4.39 0 Cytosol;Cytoplasm;Nucleus;Centrosome;Nucleoplasm NA PE1 1 +NX_Q13017 1502 172460 6.18 0 Cytosol;Cytoplasm;Endoplasmic reticulum;Cell membrane NA PE1 14 +NX_Q13018 1463 168600 5.73 1 Cytosol;Cell membrane;Secreted NA PE1 2 +NX_Q13021 153 17350 6.15 4 Membrane NA PE1 2 +NX_Q13023 2319 256720 4.9 0 Sarcoplasmic reticulum;Nucleus membrane NA PE1 14 +NX_Q13029 1718 188915 7.02 0 Nucleus;Golgi apparatus NA PE1 1 +NX_Q13033 797 87209 5.17 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Cytosol;Membrane NA PE1 14 +NX_Q13042 620 71656 5.55 0 Cytoplasm;Spindle;Centrosome NA PE1 13 +NX_Q13043 487 55630 4.97 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PE1 20 +NX_Q13045 1269 144751 5.75 0 Cytosol;Microtubule organizing center;Nucleoplasm;Focal adhesion;Nucleus;Cytoskeleton;Centrosome NA PE1 17 +NX_Q13046 419 47027 8.65 0 Secreted NA PE5 19 +NX_Q13049 653 71989 6.59 0 Cytoplasm;Cytoskeleton Bardet-Biedl syndrome 11;Limb-girdle muscular dystrophy 2H PE1 9 +NX_Q13057 564 62329 6.51 0 Mitochondrion matrix;Cytoplasm;Cytosol;Nucleoplasm Neurodegeneration with brain iron accumulation 6 PE1 17 +NX_Q13061 729 81595 9.42 1 Cytosol;Cell membrane;Sarcoplasmic reticulum membrane Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness PE1 6 +NX_Q13064 507 55645 5.52 0 Nucleoplasm;Cytosol;Cell membrane Precocious puberty, central 2 PE1 15 +NX_Q13065 139 15610 4.39 0 NA NA PE1 X +NX_Q13066 116 12786 4.34 0 NA NA PE1 X +NX_Q13068 117 12885 4.12 0 Cytoplasm;Nucleus NA PE1 X +NX_Q13069 117 12924 4.19 0 NA NA PE1 X +NX_Q13070 117 12892 4.19 0 NA NA PE1 X +NX_Q13072 43 4810 5 0 Secreted NA PE2 13 +NX_Q13075 1403 159582 5.68 0 NA NA PE1 5 +NX_Q13077 416 46164 5.77 0 Nucleoplasm;Cytoplasm NA PE1 9 +NX_Q13084 256 30157 8.34 0 Mitochondrion NA PE1 16 +NX_Q13085 2346 265554 5.95 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus Acetyl-CoA carboxylase 1 deficiency PE1 17 +NX_Q13087 525 58206 4.89 0 Cytosol;Nucleoplasm;Endoplasmic reticulum lumen NA PE1 16 +NX_Q13093 441 50077 7.23 0 Cytoplasmic vesicle;Extracellular space Atopic hypersensitivity;Asthma;Platelet-activating factor acetylhydrolase deficiency PE1 6 +NX_Q13094 533 60188 5.89 0 Cytoplasm NA PE1 5 +NX_Q13098 491 55537 6.3 0 Cytoplasm;Nucleus NA PE1 17 +NX_Q13099 833 94270 6.2 0 Flagellum;Cytoplasm;Centrosome;Centriole;Cilium;Cilium basal body NA PE1 13 +NX_Q13103 211 24338 8.59 0 Secreted NA PE1 2 +NX_Q13105 803 87928 6 0 Nucleus NA PE1 1 +NX_Q13106 437 49865 9.11 0 Nucleus NA PE2 19 +NX_Q13107 963 108565 5.47 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 3 +NX_Q13111 956 106910 5.69 0 Cytosol;Nucleus NA PE1 19 +NX_Q13112 559 61493 7.18 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 21 +NX_Q13113 114 12227 4.79 1 Cytosol;Nucleus speckle;Membrane NA PE1 1 +NX_Q13114 568 64490 8.23 0 Mitochondrion;Cytoplasm;Endosome Encephalopathy, acute, infection-induced, Herpes-specific, 5 PE1 14 +NX_Q13115 394 42953 7.1 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q13117 558 63111 8.84 0 Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 PE1 Y +NX_Q13118 480 52555 9.29 0 Nucleus NA PE1 8 +NX_Q13123 557 65602 6.26 0 Nucleoplasm;Nucleus speckle;Nucleus;Spindle pole;Chromosome NA PE1 5 +NX_Q13126 283 31236 6.75 0 Cytosol;Cytoplasm;Nucleus Diaphyseal medullary stenosis with malignant fibrous histiocytoma PE1 9 +NX_Q13127 1097 121872 6.3 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Wilms tumor 6;Fibromatosis, gingival, 5 PE1 4 +NX_Q13129 1914 217953 6.32 0 Nucleus NA PE1 1 +NX_Q13131 559 64009 8.32 0 Cytoplasm;Nucleus;Nucleus speckle NA PE1 5 +NX_Q13133 447 50396 7.61 0 Cytoplasm;Nucleus NA PE1 11 +NX_Q13136 1202 135779 5.91 0 Cytosol;Cytoplasm;Focal adhesion NA PE1 11 +NX_Q13137 446 52254 4.94 0 Autophagosome membrane;Cytosol;Cytoplasm;Cytoplasmic vesicle;Perinuclear region;Nucleus;Cytoskeleton NA PE1 17 +NX_Q13144 721 80380 4.98 0 Cytosol Leukodystrophy with vanishing white matter PE1 3 +NX_Q13145 260 29108 7.91 1 Cytoplasmic vesicle;Lipid droplet;Nucleolus;Membrane NA PE1 10 +NX_Q13148 414 44740 5.85 0 Nucleoplasm;Nucleus Amyotrophic lateral sclerosis 10 PE1 1 +NX_Q13151 305 30841 9.34 0 Nucleoplasm;Nucleus NA PE1 5 +NX_Q13153 545 60647 5.55 0 Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Ruffle membrane;Invadopodium NA PE1 11 +NX_Q13155 320 35349 8.45 0 Cytosol;Nucleus Leukodystrophy, hypomyelinating, 17 PE1 7 +NX_Q13156 261 28868 6.07 0 Nucleus NA PE1 X +NX_Q13158 208 23279 5.48 0 Cytosol;Nucleoplasm Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations PE1 11 +NX_Q13162 271 30540 5.86 0 Cytosol;Cytoplasm;Endoplasmic reticulum NA PE1 X +NX_Q13163 448 50112 5.98 0 Cytoskeleton;Nucleolus NA PE1 15 +NX_Q13164 816 88386 5.6 0 Cytosol;PML body;Nucleus;Cytoplasm NA PE1 17 +NX_Q13166 79 9224 8 0 NA NA PE2 7 +NX_Q13177 524 58043 5.69 0 Cytoplasmic vesicle;Cytoplasm;Perinuclear region;Nucleus;Membrane NA PE1 3 +NX_Q13183 592 64410 6.55 12 Membrane NA PE1 17 +NX_Q13185 183 20811 5.23 0 Nucleus NA PE1 7 +NX_Q13188 491 56301 5.12 0 Cytoplasm;Cytoskeleton;Nucleus NA PE1 8 +NX_Q13190 355 39673 9.21 1 Nucleoplasm;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus NA PE1 11 +NX_Q13191 982 109450 8.15 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 3 +NX_Q13200 908 100200 5.08 0 NA NA PE1 3 +NX_Q13201 1228 138110 8.15 0 Endoplasmic reticulum;Secreted NA PE1 4 +NX_Q13202 625 65827 8.58 0 Cytosol;Cytoplasm;Nucleus NA PE1 11 +NX_Q13203 477 52050 6.3 0 Mitochondrion;Nucleolus;Nucleus NA PE1 1 +NX_Q13206 875 100888 8.72 0 Cytoplasm;Nucleolus;Nucleus NA PE1 11 +NX_Q13207 712 75066 9.13 0 Cytosol;Nucleoplasm;Nucleus NA PE1 17 +NX_Q13214 749 83122 9.17 0 Endoplasmic reticulum;Secreted NA PE1 3 +NX_Q13216 396 44055 5.91 0 Nucleus speckle;Nucleus Cockayne syndrome A;UV-sensitive syndrome 2 PE1 5 +NX_Q13217 504 57580 5.83 0 Endoplasmic reticulum Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus PE1 13 +NX_Q13219 1627 180973 5.76 0 Cytosol;Cell membrane;Secreted NA PE1 9 +NX_Q13224 1484 166367 6.47 3 Postsynaptic cell membrane;Cell membrane Mental retardation, autosomal dominant 6, with or without seizures;Epileptic encephalopathy, early infantile, 27 PE1 12 +NX_Q13227 327 36689 9.52 0 Cytosol;Mitochondrion;Nucleus;Nucleoplasm NA PE1 17 +NX_Q13228 472 52391 5.93 0 Cytosol;Nucleolus;Nucleus;Membrane NA PE1 1 +NX_Q13231 466 51681 6.55 0 Secreted;Lysosome NA PE1 1 +NX_Q13232 169 19015 7.71 0 Nucleoplasm;Cytosol NA PE1 16 +NX_Q13233 1512 164470 7.93 0 Cytosol 46,XY sex reversal 6 PE1 5 +NX_Q13237 762 87432 8.67 0 Apical cell membrane NA PE1 4 +NX_Q13239 276 31156 7.61 0 Cytoplasm;Endosome;Nucleus membrane NA PE1 8 +NX_Q13241 179 20513 5.19 1 Membrane NA PE1 12 +NX_Q13242 221 25542 8.74 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q13243 272 31264 11.59 0 Nucleolus;Nucleus NA PE1 14 +NX_Q13247 344 39587 11.42 0 Nucleus speckle;Nucleus NA PE1 20 +NX_Q13253 232 25774 9.13 0 Secreted Brachydactyly B2;Stapes ankylosis with broad thumb and toes;Multiple synostoses syndrome 1;Symphalangism, proximal 1A;Tarsal-carpal coalition syndrome PE1 17 +NX_Q13255 1194 132357 6.27 7 Cytoplasmic vesicle;Cell membrane Spinocerebellar ataxia, autosomal recessive, 13;Spinocerebellar ataxia 44 PE1 6 +NX_Q13257 205 23510 5.02 0 Nucleoplasm;Kinetochore;Nucleus;Spindle pole;Cytoplasm NA PE1 4 +NX_Q13258 359 40271 9.39 7 Cell membrane Asthma-related traits 1 PE1 14 +NX_Q13261 267 28233 8.64 1 Endoplasmic reticulum membrane;Extracellular space;Nucleus membrane;Cytosol;Cell membrane;Golgi apparatus membrane;Membrane;Cytoplasmic vesicle membrane NA PE1 10 +NX_Q13263 835 88550 5.52 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q13268 280 29927 9.21 0 Mitochondrion matrix;Mitochondrion;Nucleus NA PE1 14 +NX_Q13275 785 88381 8.59 0 Secreted NA PE1 3 +NX_Q13277 289 33155 5.31 1 Cytosol;Nucleus;Golgi apparatus;Membrane NA PE1 11 +NX_Q13278 110 11984 8.36 0 NA NA PE5 11 +NX_Q13283 466 52164 5.36 0 Perikaryon;Cytosol;Cytoplasm;Cell membrane;Stress granule;Nucleus NA PE1 5 +NX_Q13285 461 51636 7.81 0 Nucleus Spermatogenic failure 8;Adrenal insufficiency, NR5A1-related;46,XX sex reversal 4;46,XY sex reversal 3;Premature ovarian failure 7 PE1 9 +NX_Q13286 438 47623 5.93 6 Lysosome membrane;Late endosome;Lysosome Ceroid lipofuscinosis, neuronal, 3 PE1 16 +NX_Q13287 307 35057 5.24 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 2 +NX_Q13291 335 37231 8.7 1 Cell membrane;Secreted NA PE1 1 +NX_Q13296 93 10499 4.17 0 Secreted NA PE1 11 +NX_Q13303 367 41000 9.11 0 Synaptosome;Cytoplasm;Cell membrane;Axon;Membrane;Cytoskeleton NA PE1 1 +NX_Q13304 367 40989 9.58 7 Cytoplasmic vesicle;Cell membrane NA PE2 2 +NX_Q13308 1070 118392 6.67 1 Cell junction;Membrane NA PE1 6 +NX_Q13309 424 47761 6.67 0 Cytosol;Cytoplasm;Nucleus NA PE1 5 +NX_Q13310 644 70783 9.31 0 Cytosol;Cytoplasm NA PE1 1 +NX_Q13315 3056 350687 6.39 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus Ataxia telangiectasia PE1 11 +NX_Q13316 513 55782 4 0 Cytoplasm;Nucleus;Extracellular matrix Hypophosphatemic rickets, autosomal recessive, 1 PE1 4 +NX_Q13319 367 38705 9.76 0 Cell membrane NA PE1 2 +NX_Q13322 594 67231 8.06 0 Cytoplasmic vesicle;Cytoplasm NA PE1 7 +NX_Q13323 160 18016 4.21 1 Mitochondrion membrane;Endomembrane system NA PE1 22 +NX_Q13324 411 47688 7.87 7 Cell membrane NA PE1 7 +NX_Q13325 482 55847 7 0 Cytoplasmic vesicle;Ruffle membrane;Cell membrane NA PE1 10 +NX_Q13326 291 32379 5.64 1 Nucleoplasm;Cytoskeleton;Sarcolemma Limb-girdle muscular dystrophy 2C PE1 13 +NX_Q13330 715 80786 9.34 0 Cytosol;Cytoplasm;Nucleus envelope;Nucleoplasm;Nucleus;Cytoskeleton NA PE1 14 +NX_Q13332 1948 217041 6.06 1 Synaptosome;Synaptic vesicle membrane;Perikaryon;Cytosol;Cell membrane;Axon;Postsynaptic density NA PE1 19 +NX_Q13336 389 42528 6.79 8 Cytoplasmic vesicle;Basolateral cell membrane;Cell membrane NA PE1 18 +NX_Q13342 867 98223 5.21 0 Mitochondrion;Cytoplasm;Nucleolus;Nucleus;PML body NA PE1 2 +NX_Q13347 325 36502 5.38 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 1 +NX_Q13349 1161 126758 5.5 1 Membrane NA PE1 16 +NX_Q13351 362 38221 6.67 0 Nucleoplasm;Nucleus Anemia, congenital dyserythropoietic, 4 PE1 19 +NX_Q13352 177 20194 9.13 0 Kinetochore;Cytoplasm;Centromere;Nucleus;Nucleoplasm NA PE1 1 +NX_Q13356 520 58823 8.92 0 Nucleoplasm;Nucleus NA PE1 22 +NX_Q13360 481 54782 8.53 0 Nucleus NA PE1 19 +NX_Q13361 173 19612 5.64 0 Extracellular matrix Aortic aneurysm, familial thoracic 9 PE1 12 +NX_Q13362 524 61061 6.41 0 Cytosol;Centromere;Nucleus;Golgi apparatus;Nucleoplasm NA PE1 14 +NX_Q13363 440 47535 6.28 0 Nucleoplasm;Cytoplasm;Nucleus Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome PE1 4 +NX_Q13367 1082 119059 5.43 0 Golgi apparatus;Clathrin-coated vesicle membrane Epileptic encephalopathy, early infantile, 48 PE1 15 +NX_Q13368 585 66152 6.34 0 Cytosol;Nucleoplasm NA PE1 17 +NX_Q13370 1112 124333 5.61 6 Endoplasmic reticulum;Membrane NA PE1 11 +NX_Q13371 301 34282 4.65 0 Cytosol;Cytoplasm;Cilium NA PE1 9 +NX_Q13387 824 87975 4.36 0 Cytoplasm NA PE1 22 +NX_Q13393 1074 124184 8.91 0 Endoplasmic reticulum membrane;Perinuclear region;Late endosome membrane;Golgi apparatus membrane;Cell membrane Cardiac valvular defect, developmental PE1 3 +NX_Q13394 359 40956 8.94 0 Nucleus NA PE1 13 +NX_Q13395 1621 181675 6.66 0 Nucleus speckle NA PE1 1 +NX_Q13398 564 64535 8.83 0 Mitochondrion;Cytoplasm;Nucleus NA PE1 19 +NX_Q13401 168 18716 4.52 0 NA NA PE5 7 +NX_Q13402 2215 254390 8.79 0 Cytosol;Cytoplasm;Cytoskeleton;Cell cortex Deafness, autosomal recessive, 2;Usher syndrome 1B;Deafness, autosomal dominant, 11 PE1 11 +NX_Q13404 147 16495 7.71 0 Nucleus NA PE1 20 +NX_Q13405 166 19198 9.47 0 Mitochondrion NA PE1 11 +NX_Q13409 638 71457 5.08 0 Nucleolus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleus;Cytoskeleton NA PE1 2 +NX_Q13410 526 58960 5.38 1 Secreted;Membrane NA PE1 6 +NX_Q13415 861 97350 9.34 0 Cytosol;Nucleus;Cell membrane Meier-Gorlin syndrome 1 PE1 1 +NX_Q13416 577 65972 6.07 0 Nucleoplasm;Cytosol;Nucleus NA PE1 2 +NX_Q13418 452 51419 8.3 0 Sarcomere;Lamellipodium;Focal adhesion;Cell junction;Cell membrane NA PE1 11 +NX_Q13421 630 68986 6.03 0 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Secreted NA PE1 16 +NX_Q13422 519 57528 6.12 0 Nucleoplasm;Cytoplasm;Nucleus Immunodeficiency, common variable, 13 PE1 7 +NX_Q13423 1086 113896 8.31 14 Mitochondrion;Mitochondrion inner membrane Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency PE1 5 +NX_Q13424 505 53895 6.35 0 Cytoskeleton;Cell junction;Sarcolemma Long QT syndrome 12 PE1 20 +NX_Q13425 540 57950 9.03 0 Cytoskeleton;Secretory vesicle membrane;Cell junction;Membrane NA PE1 16 +NX_Q13426 336 38287 4.91 0 Nucleus Short stature, microcephaly, and endocrine dysfunction PE1 5 +NX_Q13427 754 88617 10.29 0 Cytosol;Nucleus speckle;Nucleus;Nucleus matrix NA PE1 2 +NX_Q13428 1488 152106 9.06 0 Nucleolus Treacher Collins syndrome 1 PE1 5 +NX_Q13432 240 26962 6 0 Spindle;Spindle pole;Centrosome Immunodeficiency 13 PE1 17 +NX_Q13433 755 85047 6.45 6 Cell membrane NA PE1 18 +NX_Q13434 485 52910 5.08 0 NA NA PE5 X +NX_Q13435 895 100228 5.52 0 Nucleus speckle;Nucleus NA PE1 11 +NX_Q13438 667 75562 4.8 0 Endoplasmic reticulum lumen;Endoplasmic reticulum NA PE1 12 +NX_Q13439 2230 261140 5.33 0 trans-Golgi network membrane;Golgi apparatus;Cytosol;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 3 +NX_Q13442 181 20630 8.84 0 Cytosol;Cell membrane NA PE1 7 +NX_Q13443 819 90556 7.71 1 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane;Secreted Cone-rod dystrophy 9 PE1 8 +NX_Q13444 863 92959 6.3 1 Cytoplasmic vesicle;Adherens junction;Flagellum;Acrosome;Endomembrane system NA PE1 1 +NX_Q13445 227 25206 4.39 1 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cell membrane NA PE1 19 +NX_Q13449 338 37393 6.55 0 Cytosol;Cell membrane NA PE1 3 +NX_Q13451 457 51212 5.71 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 6 +NX_Q13454 348 39676 9.93 4 Endoplasmic reticulum membrane Mental retardation, autosomal recessive 7 PE1 8 +NX_Q13459 2157 243401 8.91 0 Cytosol;Perinuclear region;Cell cortex;Cytoskeleton Celiac disease 4 PE1 19 +NX_Q13461 319 33234 9.72 0 Nucleus Cataract 34, multiple types;Anterior segment dysgenesis 2;Aortic aneurysm, familial thoracic 11 PE1 1 +NX_Q13464 1354 158175 5.66 0 Ruffle;Cytoplasm;Cell membrane;Centriole;Golgi apparatus membrane;Bleb;Lamellipodium;Cytoskeleton NA PE1 18 +NX_Q13467 585 64507 8.69 7 Synapse;Perikaryon;Cell membrane;Axon;Dendrite;Golgi apparatus membrane NA PE1 2 +NX_Q13469 925 100146 6.87 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 20 +NX_Q13470 666 72468 9.57 0 Cytoplasm;Cell junction;Membrane NA PE1 17 +NX_Q13472 1001 112372 8.69 0 Mitochondrion matrix Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5;Microcephaly, growth restriction, and increased sister chromatid exchange 2 PE1 17 +NX_Q13474 957 107962 5.82 0 Nucleus speckle;Dendrite;Perikaryon;Cell membrane;Postsynaptic density NA PE1 X +NX_Q13477 382 40155 5 1 Membrane NA PE1 19 +NX_Q13478 541 62304 8.06 1 Mitochondrion;Membrane NA PE1 2 +NX_Q13480 694 76616 5.63 0 Cytoplasmic vesicle Deafness, autosomal recessive, 26 PE1 4 +NX_Q13485 552 60439 6.5 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Centrosome Myhre syndrome;Pancreatic cancer;Juvenile polyposis syndrome;Colorectal cancer;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome PE1 18 +NX_Q13487 334 35556 5.79 0 Cytosol;Nucleoplasm;Nucleus NA PE1 19 +NX_Q13488 830 92968 6.66 8 Mitochondrion;Membrane Osteopetrosis, autosomal recessive 1 PE1 11 +NX_Q13489 604 68372 5.71 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 11 +NX_Q13490 618 69900 6.27 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 11 +NX_Q13491 265 28989 5.53 4 Cell membrane NA PE1 X +NX_Q13492 652 70755 7.7 0 Cytoplasmic vesicle;Clathrin-coated vesicle;Clathrin-coated pit;Nucleus;Golgi apparatus NA PE1 11 +NX_Q13495 774 83231 8.54 0 Nucleoplasm;Nucleus Hypospadias 2, X-linked PE1 X +NX_Q13496 603 69932 8.38 0 Late endosome;Ruffle;Cytoplasm;Cell membrane;Filopodium;Sarcomere Myopathy, centronuclear, X-linked PE1 X +NX_Q13501 440 47687 5.1 0 PML body;Late endosome;Lysosome;Cytosol;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleus;Autophagosome;Sarcomere Myopathy, distal, with rimmed vacuoles;Paget disease of bone 3;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset PE1 5 +NX_Q13503 144 15564 4.29 0 Cytosol;Nucleolus;Nucleus NA PE1 12 +NX_Q13505 466 51463 9.8 1 Mitochondrion;Mitochondrion outer membrane;Membrane NA PE1 1 +NX_Q13506 487 54401 6.24 0 Nucleoplasm;Nucleus;Golgi apparatus;Cell membrane NA PE1 2 +NX_Q13507 836 96009 6.25 6 Membrane Spinocerebellar ataxia 41 PE1 4 +NX_Q13508 389 43923 5.71 0 Cell membrane NA PE1 4 +NX_Q13509 450 50433 4.83 0 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 1;Fibrosis of extraocular muscles, congenital, 3A PE1 16 +NX_Q13510 395 44660 7.52 0 Lysosome Farber lipogranulomatosis;Spinal muscular atrophy with progressive myoclonic epilepsy PE1 8 +NX_Q13515 415 45880 5.41 0 Cytosol;Cytoskeleton;Cell cortex;Cell membrane Cataract 12, multiple types PE1 3 +NX_Q13516 323 32385 9.28 0 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA PE1 21 +NX_Q13519 176 20295 8.73 0 Secreted NA PE1 8 +NX_Q13520 282 29370 8.88 6 Cytoplasmic vesicle membrane NA PE2 12 +NX_Q13522 171 19011 5.9 0 NA NA PE1 12 +NX_Q13523 1007 116987 10.26 0 Nucleus speckle;Nucleus NA PE1 6 +NX_Q13526 163 18243 8.95 0 Nucleoplasm;Nucleus speckle;Nucleus;Cytosol;Cytoplasm NA PE1 19 +NX_Q13530 473 52580 7.43 8 Perinuclear region;Golgi apparatus membrane;Cell membrane NA PE1 20 +NX_Q13535 2644 301367 7.17 0 Nucleoplasm;PML body;Nucleus;Golgi apparatus;Chromosome Cutaneous telangiectasia and cancer syndrome, familial;Seckel syndrome 1 PE1 3 +NX_Q13536 156 17231 6.39 0 Nucleus NA PE2 1 +NX_Q13541 118 12580 5.32 0 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA PE1 8 +NX_Q13542 120 12939 6.16 0 Nucleoplasm;Mitochondrion NA PE1 10 +NX_Q13546 671 75931 5.92 0 Cytosol;Cytoplasm;Cell membrane NA PE1 6 +NX_Q13547 482 55103 5.31 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q13554 666 72678 6.87 0 Centrosome;Synapse;Cytoskeleton;Sarcoplasmic reticulum membrane Mental retardation, autosomal dominant 54 PE1 7 +NX_Q13555 558 62607 7.9 0 Sarcoplasmic reticulum membrane NA PE1 10 +NX_Q13557 499 56369 6.81 0 Sarcolemma;Sarcoplasmic reticulum membrane NA PE1 4 +NX_Q13561 401 44231 5.1 0 Endosome;Centrosome;Membrane NA PE1 12 +NX_Q13562 356 39920 5.2 0 Cytoplasm;Nucleus Maturity-onset diabetes of the young 6;Diabetes mellitus, non-insulin-dependent PE1 2 +NX_Q13563 968 109691 5.49 6 Endoplasmic reticulum membrane;Basolateral cell membrane;Golgi apparatus;Cell membrane;Cilium membrane;Endoplasmic reticulum;Cytoplasmic vesicle membrane Polycystic kidney disease 2 with or without polycystic liver disease PE1 4 +NX_Q13564 534 60246 5.25 0 Cytoplasm;Cytoskeleton;Nucleus;Centrosome;Cell membrane NA PE1 16 +NX_Q13568 498 56044 5.54 0 Cytoplasm;Nucleus Rheumatoid arthritis;Systemic lupus erythematosus 10;Inflammatory bowel disease 14 PE1 7 +NX_Q13569 410 46053 6.36 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q13571 262 29937 8.95 5 Cytosol;Lysosome membrane NA PE1 1 +NX_Q13572 414 45621 5.78 0 Mitochondrion NA PE1 14 +NX_Q13573 536 61494 9.52 0 Nucleoplasm;Nucleus NA PE1 14 +NX_Q13574 1117 124128 9.24 0 Cytoplasm;Nucleus;Nucleus speckle;Cell membrane;Lamellipodium NA PE1 11 +NX_Q13576 1575 180578 5.47 0 Cytoplasmic vesicle;Cell membrane NA PE1 5 +NX_Q13585 617 67369 7.64 7 Nucleoplasm;Cell membrane NA PE1 X +NX_Q13586 685 77423 6.19 1 Endoplasmic reticulum membrane;Cytoskeleton;Sarcoplasmic reticulum;Endoplasmic reticulum;Cell membrane Stormorken syndrome;Myopathy, tubular aggregate, 1;Immunodeficiency 10 PE1 11 +NX_Q13588 217 25337 6.54 0 NA NA PE1 17 +NX_Q13591 1074 120615 7.03 1 Membrane NA PE1 5 +NX_Q13595 282 32689 11.27 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA PE1 7 +NX_Q13596 522 59070 5.08 0 Endosome;trans-Golgi network membrane;Lysosome;Early endosome membrane;Endosome membrane;Lamellipodium NA PE1 15 +NX_Q13601 381 43665 9.78 0 Cytoplasm;Nucleolus;Nucleus NA PE1 12 +NX_Q13606 314 36049 8.25 7 Cell membrane NA PE2 11 +NX_Q13607 317 35350 8.65 7 Cell membrane NA PE2 7 +NX_Q13608 980 104061 5.96 0 Peroxisome membrane;Photoreceptor outer segment;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus Peroxisome biogenesis disorder complementation group 4;Peroxisome biogenesis disorder 4B;Heimler syndrome 2;Peroxisome biogenesis disorder 4A PE1 6 +NX_Q13609 305 35504 9.35 0 Nucleus;Golgi apparatus;Endoplasmic reticulum;Secreted Systemic lupus erythematosus 16 PE1 3 +NX_Q13610 501 55828 4.6 0 Nucleolus;Nucleus;Chromosome;Golgi apparatus NA PE1 12 +NX_Q13613 665 74678 6.69 0 Cytoplasm;Cell membrane;Microtubule organizing center NA PE1 X +NX_Q13614 643 73381 7.02 0 Cytoplasmic vesicle;Cytoplasm;Early endosome membrane Charcot-Marie-Tooth disease 4B1 PE1 11 +NX_Q13615 1198 133619 5.51 0 Nucleoplasm;Cytoplasm;Cytosol;Membrane NA PE1 22 +NX_Q13616 776 89679 8.19 0 Cytoplasm;Nucleolus;Nucleus NA PE1 7 +NX_Q13617 745 86983 6.46 0 Nucleoplasm NA PE1 10 +NX_Q13618 768 88930 8.68 0 Flagellum;Cytoplasm;Nucleus;Golgi apparatus Pseudohypoaldosteronism 2E PE1 2 +NX_Q13619 759 87680 8.29 0 NA NA PE1 13 +NX_Q13620 913 103982 7.01 0 Nucleus Mental retardation, X-linked, syndromic, 15 PE1 X +NX_Q13621 1099 121450 7.18 12 Cytoplasmic vesicle;Nucleus;Membrane Bartter syndrome 1, antenatal PE1 15 +NX_Q13625 1128 125616 5.78 0 Cytosol;Perinuclear region;Nucleus;Cell junction NA PE1 1 +NX_Q13627 763 85584 8.9 0 Cytosol;Nucleus speckle;Nucleolus;Nucleus Mental retardation, autosomal dominant 7 PE1 21 +NX_Q13630 321 35893 6.12 0 Cytosol;Nucleoplasm NA PE1 8 +NX_Q13634 790 88073 4.98 1 Cell membrane NA PE1 5 +NX_Q13635 1447 160545 6.42 12 Cell membrane;Golgi apparatus Holoprosencephaly 7;Basal cell nevus syndrome;Basal cell carcinoma PE1 9 +NX_Q13636 194 21569 6.59 0 trans-Golgi network membrane;Cytoplasm;Phagosome;trans-Golgi network;Early endosome;Phagosome membrane NA PE1 18 +NX_Q13637 225 24997 6.08 0 Melanosome;Cytosol;Phagosome;Mitochondrion outer membrane;Mitochondrion;Melanosome membrane;Phagosome membrane NA PE1 6 +NX_Q13639 388 43761 8.06 7 Endosome;Cell membrane NA PE1 5 +NX_Q13641 420 46032 6.35 1 Nucleoplasm;Cell membrane NA PE1 6 +NX_Q13642 323 36263 9.25 0 Cytosol;Cytoplasm;Nucleus;Cell membrane Uruguay faciocardiomusculoskeletal syndrome;Myopathy, X-linked, with postural muscle atrophy;Reducing body myopathy, X-linked 1B, with late childhood or adult onset;Scapuloperoneal myopathy, X-linked dominant;Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset;Emery-Dreifuss muscular dystrophy 6, X-linked PE1 X +NX_Q13643 280 31192 5.79 0 Cytoplasm;Nucleus NA PE1 1 +NX_Q13651 578 63003 5.23 1 Membrane Inflammatory bowel disease 28 PE1 11 +NX_Q13670 270 28555 6.23 0 NA NA PE5 7 +NX_Q13671 783 84099 8.3 0 Cytoplasm;Cytoskeleton;Nucleus;Nucleus membrane;Membrane NA PE1 11 +NX_Q13683 1181 128948 5.47 1 Cytosol;Cell membrane;Membrane Muscular dystrophy congenital due to integrin alpha-7 deficiency PE1 12 +NX_Q13685 434 46751 4.29 0 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA PE1 2 +NX_Q13686 389 43832 6.61 0 Mitochondrion;Nucleus NA PE1 14 +NX_Q13698 1873 212350 6.17 24 Sarcolemma Thyrotoxic periodic paralysis 1;Malignant hyperthermia 5;Periodic paralysis hypokalemic 1 PE1 1 +NX_Q13702 412 46328 8.48 0 Cytosol;Cytoskeleton;Postsynaptic cell membrane;Centrosome;Cell membrane Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Fetal akinesia deformation sequence PE1 11 +NX_Q13705 512 57724 5.46 1 Cytosol;Nucleus;Cell membrane Heterotaxy, visceral, 4, autosomal PE1 3 +NX_Q13724 837 91918 8.97 1 Endoplasmic reticulum membrane;Endoplasmic reticulum Type IIb congenital disorder of glycosylation PE1 2 +NX_Q13733 1029 114166 6.23 10 Cell membrane NA PE1 1 +NX_Q13740 583 65102 5.92 1 Axon;Dendrite;Cell membrane;Secreted NA PE1 3 +NX_Q13751 1172 129572 7.14 0 Mitochondrion;Nucleolus;Basement membrane Epidermolysis bullosa, junctional, Herlitz type;Amelogenesis imperfecta 1A;Generalized atrophic benign epidermolysis bullosa PE1 1 +NX_Q13753 1193 130976 5.83 0 Cytosol;Basement membrane Epidermolysis bullosa, junctional, Herlitz type PE1 1 +NX_Q13761 415 44356 9.53 0 Cytosol;Cytoplasm;Nucleus NA PE1 1 +NX_Q13765 215 23384 4.52 0 Cytoplasm;Nucleus NA PE1 12 +NX_Q13769 683 78508 6.41 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 22 +NX_Q13772 614 69726 5.72 0 Cytosol;Nucleolus;Golgi apparatus NA PE1 10 +NX_Q13790 326 35399 5.42 0 Secreted NA PE1 12 +NX_Q13794 54 6030 10.3 0 Mitochondrion;Cytoplasmic vesicle NA PE1 18 +NX_Q13795 201 22614 7.5 0 Golgi apparatus;trans-Golgi network NA PE1 20 +NX_Q13796 1616 176410 6.64 0 Apical cell membrane;Cytosol;Cell membrane;Cytoskeleton;Cell junction;Tight junction NA PE1 X +NX_Q13797 1035 114489 5.76 1 Cytoplasmic vesicle;Nucleoplasm;Cell junction;Cell membrane;Membrane NA PE1 3 +NX_Q13813 2472 284539 5.22 0 Cytoplasmic vesicle;Cytoskeleton;Cell cortex Epileptic encephalopathy, early infantile, 5 PE1 9 +NX_Q13822 863 98994 7.14 0 Cytoskeleton;Nucleus;Golgi apparatus;Secreted NA PE1 8 +NX_Q13823 731 83655 9.27 0 Nucleolus NA PE1 1 +NX_Q13825 339 35609 9.53 0 Mitochondrion 3-methylglutaconic aciduria 1 PE1 9 +NX_Q13829 316 36204 8.26 0 Cytoplasm;Endosome;Nucleolus;Nucleus NA PE1 17 +NX_Q13835 747 82861 9.29 0 Nucleoplasm;Desmosome;Nucleus Ectodermal dysplasia-skin fragility syndrome PE1 1 +NX_Q13838 428 48991 5.44 0 Nucleus speckle;Nucleus;Cytoplasm NA PE1 6 +NX_Q13867 455 52562 5.87 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 17 +NX_Q13868 293 32789 7.06 0 Cytoplasm;Nucleolus;Nucleus Short stature, hearing loss, retinitis pigmentosa, and distinctive facies PE1 9 +NX_Q13873 1038 115201 5.82 1 Nucleoplasm;Cell membrane Pulmonary hypertension, primary, 1;Pulmonary venoocclusive disease 1, autosomal dominant PE1 2 +NX_Q13875 183 20959 11.35 0 Perinuclear region NA PE1 3 +NX_Q13882 451 51834 6.56 0 Ruffle;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus;Membrane NA PE1 20 +NX_Q13884 538 58061 8.81 0 Cytoskeleton;Cell junction;Sarcolemma NA PE1 8 +NX_Q13885 445 49907 4.78 0 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 5 PE1 6 +NX_Q13886 244 27235 8.8 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA PE1 9 +NX_Q13887 457 50792 8.86 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Golgi apparatus NA PE1 13 +NX_Q13888 395 44419 6.28 0 Nucleus NA PE1 5 +NX_Q13889 308 34378 6.59 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q13895 437 49601 8.19 0 Cytoplasm;Nucleolus;Nucleus NA PE1 6 +NX_Q13901 141 16019 9 0 Cytoplasm;Nucleolus;Nucleus NA PE1 2 +NX_Q13905 1077 120548 5.64 0 Early endosome NA PE1 9 +NX_Q13907 227 26319 5.93 0 Peroxisome NA PE1 10 +NX_Q13936 2221 248977 6.33 24 Dendrite;Perikaryon;Sarcolemma;Cell membrane;Postsynaptic density Brugada syndrome 3;Timothy syndrome PE1 12 +NX_Q13938 275 30240 5.67 0 Cytosol;Nucleoplasm;Cell membrane;Cytoplasm NA PE1 19 +NX_Q13939 588 66582 8.49 0 Calyx NA PE1 9 +NX_Q13946 482 55505 7.1 0 Cytosol;Cytoplasm NA PE1 8 +NX_Q13948 678 77455 5.35 1 Golgi apparatus membrane NA PE1 7 +NX_Q13950 521 56648 9.03 0 Nucleoplasm;Nucleus Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly;Cleidocranial dysplasia PE1 6 +NX_Q13951 182 21508 6.23 0 Cytosol;Nucleus NA PE1 16 +NX_Q13952 458 50302 5.78 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q13956 83 9074 9.3 0 NA Cone dystrophy, retinal 3A PE1 12 +NX_Q13972 1273 145234 7.18 0 Golgi apparatus NA PE1 15 +NX_Q13976 671 76364 5.74 0 Cytosol;Cytoplasm;Cytoplasmic vesicle Aortic aneurysm, familial thoracic 8 PE1 10 +NX_Q14002 265 29379 5.36 0 Apical cell membrane;Cell membrane NA PE1 19 +NX_Q14003 757 80578 6.08 6 Dendritic spine membrane;Cell cortex;Cell membrane;Axon;Dendrite;Presynaptic cell membrane;Perikaryon;Cytoskeleton Spinocerebellar ataxia 13 PE1 19 +NX_Q14004 1512 164923 9.71 0 Nucleus speckle Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder PE1 7 +NX_Q14005 1332 141752 8.34 0 Nucleus speckle;Secreted;Cytosol;Cytoplasm;Cell membrane;Nucleus NA PE1 15 +NX_Q14008 2032 225495 7.95 0 Kinetochore;Nucleolus;Cell membrane;Spindle pole;Spindle;Centrosome NA PE1 11 +NX_Q14011 172 18648 9.51 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA PE1 19 +NX_Q14012 370 41337 5.12 0 Cytosol;Cytoplasm;Nucleus NA PE1 3 +NX_Q14019 142 15945 5.54 0 Cytoplasm;Cytoskeleton;Nucleus NA PE1 16 +NX_Q14028 1251 139678 4.76 6 Cytoplasmic vesicle;Cytosol;Membrane Retinitis pigmentosa 45 PE1 16 +NX_Q14031 1691 163807 9.31 0 Basement membrane;Endoplasmic reticulum Deafness, X-linked, 6 PE1 X +NX_Q14032 418 46299 6.5 0 Cytoplasmic vesicle;Cytoplasm Familial hypercholanemia PE1 9 +NX_Q14050 684 63616 7.58 0 Nucleoplasm;Cytoskeleton;Extracellular matrix Intervertebral disc disease;Multiple epiphyseal dysplasia 3 PE1 20 +NX_Q14055 689 65131 9.23 0 Cytoplasmic vesicle;Nucleus;Extracellular matrix Intervertebral disc disease;Stickler syndrome 5;Multiple epiphyseal dysplasia 2 PE1 1 +NX_Q14061 63 6915 6.8 0 Mitochondrion;Cytoplasm;Mitochondrion intermembrane space NA PE1 3 +NX_Q14088 237 26593 8.07 0 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA PE1 X +NX_Q14093 348 39079 9.74 0 Calyx NA PE1 9 +NX_Q14094 377 42557 8.23 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 4 +NX_Q14103 355 38434 7.61 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 4 +NX_Q14106 344 36632 6.45 0 Cytosol;Cytoplasm NA PE1 22 +NX_Q14108 478 54290 5 2 Cytosol;Lysosome membrane Epilepsy, progressive myoclonic 4, with or without renal failure PE1 4 +NX_Q14112 1375 151254 5.09 0 Basement membrane;Cell membrane NA PE1 14 +NX_Q14114 963 105634 4.88 1 Cell membrane;Secreted Myocardial infarction 1 PE1 1 +NX_Q14116 193 22326 4.54 0 Cytosol;Nucleus;Golgi apparatus;Secreted NA PE1 11 +NX_Q14117 519 56630 6.81 0 NA Dihydropyrimidinase deficiency PE1 8 +NX_Q14118 895 97441 8.71 1 Extracellular space;Nucleoplasm;Cell membrane;Cytoplasmic vesicle;Postsynaptic cell membrane;Sarcolemma;Cytoskeleton Muscular dystrophy-dystroglycanopathy limb-girdle C9;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9 PE1 3 +NX_Q14119 521 56931 9.62 0 Nucleoplasm;Nucleus NA PE1 17 +NX_Q14123 709 80760 8.88 0 Nucleus NA PE1 7 +NX_Q14126 1118 122294 5.13 1 Desmosome;Cell junction;Cell membrane Cardiomyopathy, dilated 1BB;Arrhythmogenic right ventricular dysplasia, familial, 10 PE1 18 +NX_Q14129 220 24989 7.02 0 Nucleus NA PE1 22 +NX_Q14134 588 65835 6.73 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Lysosome NA PE1 11 +NX_Q14135 290 30948 8.49 0 Nucleolus;Nucleus NA PE1 3 +NX_Q14137 746 83630 5.8 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 8 +NX_Q14139 1066 122561 5.11 0 Nucleus speckle;Cytoplasm NA PE1 11 +NX_Q14140 314 33897 4.42 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 2 +NX_Q14141 434 49717 6.24 0 Kinetochore;Flagellum;Cleavage furrow;Cytoplasm;Spindle;Midbody NA PE1 X +NX_Q14142 442 49773 8.13 0 Cytosol;Nucleoplasm;Mitochondrion outer membrane NA PE1 9 +NX_Q14145 624 69666 6 0 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Microtubule organizing center NA PE1 19 +NX_Q14146 1524 170544 6.97 0 Nucleolus NA PE1 1 +NX_Q14147 1143 128120 7.37 0 Cytoskeleton;Nucleus NA PE1 19 +NX_Q14149 939 107113 5.42 0 Nucleoplasm;PML body;Mitochondrion;Nucleus matrix NA PE1 21 +NX_Q14151 953 107473 5.84 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA PE1 19 +NX_Q14152 1382 166569 6.38 0 Cytosol;Cytoplasm;Nucleus NA PE1 10 +NX_Q14153 422 45768 6.33 0 Cytosol;Nucleus NA PE1 10 +NX_Q14154 515 55920 9.37 0 Nucleoplasm;Mitochondrion;Golgi apparatus NA PE1 5 +NX_Q14155 803 90012 6.66 0 Lamellipodium;Focal adhesion;Ruffle;Cell cortex NA PE1 13 +NX_Q14156 821 92924 6.24 0 Cytosol;Cell membrane NA PE1 8 +NX_Q14157 1087 114535 6.61 0 Cytosol;Nucleus speckle NA PE1 1 +NX_Q14159 915 100316 6.22 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q14160 1630 174885 5.01 0 Nucleoplasm;Cytoplasm;Cell membrane;Adherens junction;Lamellipodium;Cell junction Neural tube defects PE1 8 +NX_Q14161 759 84543 6.78 0 Cytoskeleton NA PE1 12 +NX_Q14162 830 87387 5.98 1 Membrane NA PE1 17 +NX_Q14164 716 80462 7.91 0 Cytosol;PML body;Nucleus;Cytoplasm NA PE1 1 +NX_Q14165 292 32234 5.27 1 Endoplasmic reticulum membrane NA PE1 12 +NX_Q14166 644 74404 5.33 0 Cytosol;Cell membrane NA PE1 22 +NX_Q14168 576 64581 6.32 0 Dendritic spine membrane;Cytosol;Dendrite;Membrane;Mitochondrion;Cytoskeleton NA PE1 17 +NX_Q14181 598 65948 5.13 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q14183 400 43959 6.83 0 Synaptosome;Synaptic vesicle membrane;Nucleolus;Lysosome;Nucleus;Cell junction NA PE1 16 +NX_Q14184 412 45922 8.25 0 Cytoplasmic granule;Cell membrane;Cytoplasm NA PE1 17 +NX_Q14185 1865 215346 7.29 0 Cytoplasm;Nucleus;Membrane NA PE1 10 +NX_Q14186 410 45070 5.74 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 13 +NX_Q14188 446 49236 6.17 0 Cytoplasmic vesicle;Nucleus NA PE1 3 +NX_Q14190 667 73219 9.03 0 Nucleoplasm;Nucleus NA PE1 21 +NX_Q14191 1432 162461 5.96 0 Nucleoplasm;Nucleus speckle;Nucleolus;Nucleus Werner syndrome;Colorectal cancer PE1 8 +NX_Q14192 279 32193 7.8 0 Cytoplasm;Cytoskeleton;Nucleus;Focal adhesion;Z line NA PE1 2 +NX_Q14194 572 62184 6.55 0 Cytosol;Cytoplasm;Spindle;Centrosome NA PE1 4 +NX_Q14195 570 61963 6.04 0 Cytosol;Cytoplasm;Growth cone NA PE1 5 +NX_Q14197 206 23630 10.09 0 Nucleoplasm;Mitochondrion NA PE1 17 +NX_Q14201 252 29116 9.12 0 NA NA PE1 21 +NX_Q14202 1370 152379 6.01 0 Nucleoplasm;Nucleus NA PE1 X +NX_Q14203 1278 141695 5.61 0 Cytosol;Cytoplasm;Cell cortex;Nucleus envelope;Centriole;Spindle;Cytoskeleton;Centrosome Perry syndrome;Amyotrophic lateral sclerosis;Neuronopathy, distal hereditary motor, 7B PE1 2 +NX_Q14204 4646 532408 6.01 0 Cytosol;Cytoplasm;Cytoskeleton;Centrosome Mental retardation, autosomal dominant 13;Charcot-Marie-Tooth disease 2O;Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant PE1 14 +NX_Q14206 197 21997 5.84 0 Mitochondrion;Nucleoplasm NA PE1 6 +NX_Q14207 1427 154290 5.63 0 Nucleoplasm;Cajal body;Nucleus NA PE1 11 +NX_Q14209 437 47506 4.75 0 Nucleus NA PE1 1 +NX_Q14210 128 13286 8.59 0 Cell membrane NA PE1 8 +NX_Q14213 229 25396 9.41 0 Secreted NA PE1 19 +NX_Q14232 305 33712 6.91 0 Cytosol Leukodystrophy with vanishing white matter PE1 12 +NX_Q14236 149 17843 10.16 0 NA NA PE2 X +NX_Q14240 407 46402 5.33 0 NA NA PE1 3 +NX_Q14241 798 89909 9.59 0 Cytosol;Nucleus speckle;Nucleus NA PE1 1 +NX_Q14242 412 43201 4.35 1 Membrane NA PE1 12 +NX_Q14244 749 84052 9.62 0 Cytosol;Perinuclear region;Basolateral cell membrane;Cytoskeleton NA PE1 6 +NX_Q14246 886 97683 6.42 7 Cell membrane NA PE1 19 +NX_Q14247 550 61586 5.24 0 Ruffle;Golgi apparatus;Cytosol;Cell cortex;Clathrin-coated pit;Cell membrane;Cytoplasmic vesicle;Dendrite;Focal adhesion;Cell projection;Dendritic spine;Lamellipodium;Cytoskeleton;Podosome;Cell junction NA PE1 11 +NX_Q14249 297 32620 9.53 0 Mitochondrion NA PE1 9 +NX_Q14254 428 47064 5.19 0 Caveola;Endosome;Cell membrane;Membrane NA PE1 17 +NX_Q14257 317 36876 4.26 0 Endoplasmic reticulum lumen;Endoplasmic reticulum NA PE1 15 +NX_Q14258 630 70973 8.44 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 17 +NX_Q14264 604 67942 6.84 0 Cytoplasmic vesicle;Virion NA PE1 7 +NX_Q14289 1009 115875 5.91 0 Cytosol;Cytoplasm;Cell cortex;Perinuclear region;Cell membrane;Focal adhesion;Nucleus;Lamellipodium NA PE1 8 +NX_Q14296 549 61104 9.96 0 Mitochondrion matrix;Nucleus speckle;Mitochondrion NA PE1 7 +NX_Q14314 439 50229 7.09 0 Secreted NA PE1 7 +NX_Q14315 2725 291022 5.65 0 Cytosol;Cytoplasm;Cell membrane;Membrane;Cytoskeleton;Z line Cardiomyopathy, familial hypertrophic 26;Myopathy, myofibrillar, 5;Myopathy, distal, 4;Cardiomyopathy, familial restrictive 5 PE1 7 +NX_Q14318 412 44562 4.78 1 Cytosol;Mitochondrion;Endoplasmic reticulum;Mitochondrion membrane NA PE1 19 +NX_Q14320 339 40242 6.39 0 Nucleoplasm;Nucleus NA PE1 X +NX_Q14324 1141 128072 7.44 0 NA NA PE1 19 +NX_Q14330 331 38134 9.38 7 Cytoplasmic vesicle membrane;Cell membrane NA PE1 13 +NX_Q14331 258 29172 9.1 0 Cajal body;Nucleolus;Z line;Cytoplasm Facioscapulohumeral muscular dystrophy 1 PE1 4 +NX_Q14332 565 63554 8.47 7 Nucleus;Cell junction;Cell membrane;Membrane NA PE1 17 +NX_Q14344 377 44050 8.12 0 Cytosol;Cytoplasm;Nucleus;Melanosome;Cell membrane NA PE1 17 +NX_Q14353 236 26318 5.74 0 NA Cerebral creatine deficiency syndrome 2 PE1 19 +NX_Q14376 348 38282 6.26 0 Cytosol;Nucleus;Cell membrane Epimerase-deficiency galactosemia PE1 1 +NX_Q14390 218 23661 5.11 0 NA NA PE2 22 +NX_Q14392 662 71979 5.73 1 Nucleoplasm;Cell surface;Cell membrane NA PE1 11 +NX_Q14393 678 74925 5.46 0 Cytosol;Secreted;Microtubule organizing center NA PE1 13 +NX_Q14397 625 68685 6.24 0 Cytoplasm;Cytoskeleton;Nucleus NA PE1 2 +NX_Q14406 222 25391 5.56 0 Secreted NA PE2 17 +NX_Q14409 553 60598 6 0 Cytoplasm;Mitochondrion outer membrane NA PE1 4 +NX_Q14410 553 60594 5.57 0 Cytoplasm;Mitochondrion outer membrane NA PE1 4 +NX_Q14416 872 95568 8.5 7 Dendrite;Synapse;Cell membrane NA PE1 3 +NX_Q14432 1141 124979 5.66 6 Cytosol;Membrane Hypertension and brachydactyly syndrome PE1 12 +NX_Q14435 633 72610 8.2 1 Golgi stack membrane;Golgi apparatus Tumoral calcinosis, hyperphosphatemic, familial, 1 PE1 2 +NX_Q14439 515 56998 8.81 7 Cell membrane NA PE1 15 +NX_Q14442 188 21081 6.29 0 Cytoplasm Glycosylphosphatidylinositol biosynthesis defect 17 PE1 14 +NX_Q14444 709 78366 5.14 0 Cytosol;Cytoplasm;Dendrite NA PE1 11 +NX_Q14449 540 60988 8.56 0 Cytosol;Nucleoplasm;Endosome membrane;Cytoplasm NA PE1 2 +NX_Q14451 532 59681 8.82 0 Cytoplasm;Focal adhesion;Cell projection;Cell membrane;Cytoplasmic granule NA PE1 17 +NX_Q14457 450 51896 4.83 0 Endoplasmic reticulum membrane;Endosome;trans-Golgi network membrane;Cytoplasm;Endosome membrane;Nucleus;Autophagosome;Mitochondrion;Mitochondrion membrane NA PE1 17 +NX_Q14469 280 29541 9.66 0 Nucleus NA PE1 3 +NX_Q14493 270 31286 7.06 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 4 +NX_Q14494 772 84704 4.52 1 Endoplasmic reticulum membrane;Cytosol;Nucleus NA PE1 17 +NX_Q14498 530 59380 10.1 0 Nucleoplasm;Nucleus speckle;Cytoskeleton;Nucleus;Microtubule organizing center NA PE1 20 +NX_Q14500 433 49001 5.63 2 Cell membrane;Membrane NA PE1 17 +NX_Q14507 147 17646 8.64 0 Secreted NA PE1 14 +NX_Q14508 124 12993 4.69 0 Cytosol;Secreted NA PE1 20 +NX_Q14511 834 92861 6.23 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Cell cortex;Cell membrane;Cytosol;Focal adhesion;Nucleus;Lamellipodium;Spindle NA PE1 6 +NX_Q14512 234 26264 9.28 0 Extracellular space;Cell membrane NA PE1 4 +NX_Q14515 664 75208 4.71 0 Extracellular matrix NA PE1 4 +NX_Q14517 4588 506273 4.85 1 Perinuclear region;Nucleus;Cell membrane NA PE1 4 +NX_Q14520 560 62672 6.09 0 Secreted Thyroid cancer, non-medullary, 5 PE1 10 +NX_Q14524 2016 226940 5.34 24 Perinuclear region;Cell membrane Sudden infant death syndrome;Familial paroxysmal ventricular fibrillation 1;Sick sinus syndrome 1;Brugada syndrome 1;Progressive familial heart block 1A;Atrial standstill 1;Atrial fibrillation, familial, 10;Cardiomyopathy, dilated 1E;Long QT syndrome 3 PE1 3 +NX_Q14525 404 46214 4.81 0 NA NA PE1 17 +NX_Q14526 733 76508 6.38 0 Nucleoplasm;Cytosol;Nucleus NA PE1 17 +NX_Q14527 1009 113929 8.82 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA PE1 3 +NX_Q14532 448 50343 4.78 0 NA NA PE1 17 +NX_Q14533 505 54928 5.4 0 NA Monilethrix PE1 12 +NX_Q14534 574 63923 8.8 4 Cytosol;Endoplasmic reticulum membrane;Cytoplasmic vesicle;Microsome membrane NA PE1 8 +NX_Q14541 408 45877 8.68 0 Nucleus NA PE1 8 +NX_Q14542 456 50113 5.76 11 Nucleoplasm;Basolateral cell membrane;Nucleus membrane NA PE1 11 +NX_Q14549 363 37629 7.04 0 Nucleus NA PE1 7 +NX_Q14554 519 59594 8.08 0 Nucleoplasm;Endoplasmic reticulum lumen;Nucleolus;Golgi apparatus;Cell membrane NA PE1 3 +NX_Q14558 356 39394 6.73 0 Cytosol NA PE1 17 +NX_Q14562 1220 139315 8.54 0 Nucleoplasm;Nucleus NA PE1 17 +NX_Q14563 771 88889 7.05 0 Nucleoplasm;Cytoplasmic vesicle;Secreted Hypogonadotropic hypogonadism 16 with or without anosmia PE1 7 +NX_Q14565 340 37681 5.62 0 Nucleoplasm;Nucleus;Chromosome NA PE1 22 +NX_Q14566 821 92889 5.29 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q14568 343 39365 4.57 0 Cytoplasm NA PE1 11 +NX_Q14571 2701 308064 6.01 6 Endoplasmic reticulum membrane;Nucleus;Endoplasmic reticulum Anhidrosis, isolated, with normal sweat glands PE1 12 +NX_Q14573 2671 304106 6.05 6 Endoplasmic reticulum membrane;Cytoplasmic vesicle NA PE1 6 +NX_Q14574 896 99969 5.77 1 Desmosome;Cell junction;Cell membrane Hypotrichosis and recurrent skin vesicles PE1 18 +NX_Q14576 367 39547 9.33 0 NA NA PE1 19 +NX_Q14582 209 23528 6.46 0 Cytosol;Nucleus NA PE1 4 +NX_Q14584 549 62116 8.93 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 19 +NX_Q14585 488 55383 8.7 0 Nucleus NA PE1 19 +NX_Q14586 743 87376 9.14 0 Nucleoplasm;Nucleus NA PE1 16 +NX_Q14587 947 108374 9.14 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA PE1 12 +NX_Q14588 700 80560 8.96 0 Nucleus NA PE1 19 +NX_Q14590 738 83977 8.91 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q14592 562 63665 6.55 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q14593 569 64971 9.62 0 Nucleoplasm;Nucleus NA PE1 7 +NX_Q14596 966 107413 5.03 0 Lysosome;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Autophagosome;M line NA PE1 17 +NX_Q14602 36 4055 10.27 0 NA NA PE5 3 +NX_Q14623 411 45251 8.98 0 Extracellular space;Cell membrane Acrocapitofemoral dysplasia;Brachydactyly A1 PE1 2 +NX_Q14624 930 103357 6.51 0 Cytoplasmic vesicle;Secreted NA PE1 3 +NX_Q14626 422 45222 8.03 1 Membrane Craniosynostosis and dental anomalies PE1 9 +NX_Q14627 380 44176 4.84 1 Membrane NA PE1 X +NX_Q14641 139 15445 9.28 0 Secreted NA PE1 9 +NX_Q14642 412 47820 6.58 0 Cytosol;Membrane NA PE1 10 +NX_Q14643 2758 313929 5.71 6 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Perinuclear region;Secretory vesicle membrane Spinocerebellar ataxia 29;Spinocerebellar ataxia 15;Gillespie syndrome PE1 3 +NX_Q14644 834 95699 6.76 0 Cell membrane NA PE1 13 +NX_Q14651 629 70253 5.28 0 Cytoplasm NA PE1 3 +NX_Q14653 427 47219 5.17 0 Cytosol;Cytoplasm;Nucleus Encephalopathy, acute, infection-induced, Herpes-specific, 7 PE1 19 +NX_Q14654 390 43541 8.15 2 Membrane Familial hyperinsulinemic hypoglycemia 2;Diabetes mellitus, permanent neonatal;Transient neonatal diabetes mellitus 3;Maturity-onset diabetes of the young 13 PE1 11 +NX_Q14656 261 29148 9.05 6 Cytosol;Nucleolus;Golgi apparatus;Membrane NA PE2 X +NX_Q14657 143 14804 8.88 0 Nucleoplasm;Cytoplasm;Nucleus Galloway-Mowat syndrome 2, X-linked PE1 X +NX_Q14667 2235 253700 6.71 0 Cytosol;Nucleus speckle;Secreted NA PE1 17 +NX_Q14669 1992 220434 8.76 0 Nucleoplasm;Nucleus speckle Mental retardation, autosomal dominant 49 PE1 2 +NX_Q14671 1186 126473 6.35 0 Cytosol;Cytoplasm;P-body;Nucleus;Cytoplasmic granule Spinocerebellar ataxia 47 PE1 1 +NX_Q14674 2120 233175 7.65 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA PE1 12 +NX_Q14676 2089 226666 5.35 0 Nucleoplasm;Nucleus;Chromosome NA PE1 6 +NX_Q14677 625 68259 6.01 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Perinuclear region;Membrane;Clathrin-coated vesicle NA PE1 5 +NX_Q14678 1352 147289 5.18 0 Cytoplasm;Nucleus;Ruffle membrane;Cell membrane Cerebral palsy, spastic quadriplegic 2 PE1 9 +NX_Q14679 1199 133378 9.04 0 Mitochondrion;Cilium;Cilium basal body NA PE1 2 +NX_Q14680 651 74642 8.92 0 Cell membrane NA PE1 9 +NX_Q14681 263 28527 5.21 0 NA NA PE1 17 +NX_Q14683 1233 143233 7.51 0 Cytosol;Nucleoplasm;Kinetochore;Nucleus;Chromosome Cornelia de Lange syndrome 2 PE1 X +NX_Q14684 758 84428 9.77 0 Nucleoplasm;Nucleolus;Chromosome NA PE1 21 +NX_Q14686 2063 219145 9.4 0 Nucleoplasm;Nucleus NA PE1 20 +NX_Q14687 1217 136164 7.36 0 Nucleoplasm;Mitochondrion NA PE1 16 +NX_Q14689 1571 170369 8.35 0 Nucleus NA PE1 21 +NX_Q14690 1871 208701 8.99 0 Cytoplasmic vesicle;Nucleolus NA PE1 10 +NX_Q14691 196 22988 6.96 0 Nucleoplasm;Nucleus Immunodeficiency 55 PE1 20 +NX_Q14692 1282 145807 6.04 0 Nucleolus;Nucleus Aplasia cutis congenita, non-syndromic PE1 10 +NX_Q14693 890 98664 6.14 0 Endoplasmic reticulum membrane;Cytosol;Nucleolus;Nucleus;Nucleus membrane Myoglobinuria, acute recurrent, autosomal recessive PE1 2 +NX_Q14694 798 87134 5.19 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Early endosome NA PE1 16 +NX_Q14695 138 14937 9.04 0 NA NA PE2 7 +NX_Q14696 234 26077 7.6 0 Cytosol;Nucleus;Endoplasmic reticulum NA PE1 15 +NX_Q14697 944 106874 5.74 0 Cytosol;Golgi apparatus;Melanosome;Endoplasmic reticulum;Nucleus membrane Polycystic kidney disease 3 with or without polycystic liver disease PE1 11 +NX_Q14699 578 63146 5.46 0 Cytoplasm;Endosome;Membrane raft;Cell membrane;Early endosome NA PE1 3 +NX_Q14703 1052 117749 8.91 1 Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE1 16 +NX_Q14714 243 26618 8.12 4 Nucleus membrane;Cell membrane;Postsynaptic cell membrane;Endoplasmic reticulum;Sarcolemma;Nucleus NA PE1 12 +NX_Q14721 858 95878 8.32 6 Synaptosome;Synapse;Perikaryon;Cell membrane;Axon;Dendrite;Postsynaptic cell membrane;Sarcolemma;Membrane;Lateral cell membrane Epileptic encephalopathy, early infantile, 26 PE1 20 +NX_Q14722 419 46563 9.1 0 Cytoplasm;Cell membrane;Membrane NA PE1 3 +NX_Q14728 455 48339 9.68 11 Nucleoplasm;Nucleus membrane;Membrane NA PE1 4 +NX_Q14738 602 69992 8.24 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Mental retardation, autosomal dominant 35 PE1 6 +NX_Q14739 615 70703 9.41 8 Nucleus inner membrane;Nucleus membrane Reynolds syndrome;Pelger-Huet anomaly with mild skeletal anomalies;Pelger-Huet anomaly;Greenberg dysplasia PE1 1 +NX_Q14746 738 83208 6.2 0 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2Q PE1 1 +NX_Q14749 295 32742 6.55 0 Cytosol;Cytoplasm Glycine N-methyltransferase deficiency PE1 6 +NX_Q14761 206 21196 4.39 1 Membrane NA PE1 11 +NX_Q14764 893 99327 5.34 0 Cytosol;Cytoplasm;Nuclear pore complex;Perinuclear region NA PE1 16 +NX_Q14765 748 85941 6.2 0 Cytoplasm;Nucleus Rheumatoid arthritis;Systemic lupus erythematosus 11 PE1 2 +NX_Q14766 1721 186796 5.63 0 Cytosol;Extracellular matrix;Secreted NA PE1 2 +NX_Q14767 1821 195052 5.06 0 Nucleus;Extracellular matrix Glaucoma 3, primary congenital, D;Weill-Marchesani syndrome 3;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma PE1 14 +NX_Q14773 271 29265 10.13 1 Cell membrane;Secreted NA PE1 19 +NX_Q14774 488 50789 8.7 0 Nucleoplasm;Cytosol;Nucleus NA PE1 1 +NX_Q14781 532 56081 10.02 0 Nucleoplasm;Nucleus;Chromosome 46,XY sex reversal 5 PE1 17 +NX_Q14789 3259 376019 4.96 1 Golgi apparatus membrane;Golgi apparatus NA PE1 3 +NX_Q14790 479 55391 5 0 Nucleoplasm;Cytoplasm;Cytosol Caspase-8 deficiency PE1 2 +NX_Q147U1 533 60552 9.21 0 Cytoskeleton;Nucleus NA PE1 19 +NX_Q147U7 214 24598 9.2 1 Membrane NA PE2 3 +NX_Q147X3 362 39320 5.38 0 Cytosol;Cytoplasm;Nucleus NA PE1 14 +NX_Q14802 87 9263 6.8 1 Cell membrane NA PE1 19 +NX_Q14807 665 73262 9.5 0 Nucleus speckle;Cytoskeleton;Nucleus Spondyloepimetaphyseal dysplasia with joint laxity, 2 PE1 16 +NX_Q14814 521 55938 7.73 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q14831 915 102251 8.2 7 Cytosol;Cell membrane NA PE1 3 +NX_Q14832 879 98879 7.93 7 Cell membrane NA PE1 7 +NX_Q14833 912 101868 9.07 7 Cell membrane NA PE1 6 +NX_Q14839 1912 218005 5.62 0 Nucleus;Centrosome Sifrim-Hitz-Weiss syndrome PE1 12 +NX_Q14847 261 29717 6.61 0 Cytosol;Cytoplasm;Cell cortex;Cell membrane;Focal adhesion;Cytoskeleton NA PE1 17 +NX_Q14849 445 50502 8.53 4 Late endosome membrane NA PE1 17 +NX_Q14863 301 32645 9.24 0 Cytoskeleton;Nucleus NA PE1 12 +NX_Q14865 1188 132375 8.89 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane;Endoplasmic reticulum Leukemia, acute lymphoblastic PE1 10 +NX_Q14872 753 80957 5.14 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q14894 314 33776 5.06 0 Cytosol;Cytoplasm Deafness, autosomal dominant, 40 PE1 16 +NX_Q14896 1274 140762 6.24 0 NA Cardiomyopathy, dilated 1MM;Cardiomyopathy, familial hypertrophic 4;Left ventricular non-compaction 10 PE1 11 +NX_Q14914 329 35870 8.45 0 Cytoplasm NA PE1 9 +NX_Q14916 467 51132 8.89 10 Apical cell membrane;Golgi apparatus NA PE1 6 +NX_Q14919 205 22350 5.04 0 Cytosol;Nucleus NA PE1 11 +NX_Q14929 603 68488 9.36 0 Cytosol;Nucleus speckle;Nucleus NA PE1 9 +NX_Q14934 902 95449 5.29 0 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA PE1 14 +NX_Q14938 502 55098 8.9 0 Nucleus Sotos syndrome 2;Marshall-Smith syndrome PE1 19 +NX_Q14940 896 99011 7.33 12 Cytosol;Nucleoplasm;Membrane NA PE1 16 +NX_Q14943 382 42475 9.59 1 Cell membrane NA PE1 19 +NX_Q14952 304 33717 6.1 1 Cell membrane NA PE2 19 +NX_Q14953 304 33698 6.26 1 Cell membrane NA PE1 19 +NX_Q14954 304 33618 6.09 1 Cell membrane NA PE1 19 +NX_Q14956 572 63923 6.17 1 Early endosome membrane;Cell membrane;Melanosome membrane Amyloidosis, primary localized cutaneous, 3 PE1 7 +NX_Q14957 1233 134209 8.82 3 Postsynaptic cell membrane;Cell membrane NA PE1 17 +NX_Q14964 217 25007 7.57 0 Phagosome membrane;Cell membrane;Phagosome;Lysosome NA PE1 11 +NX_Q14966 1978 220625 6.02 0 Nucleoplasm;Nucleus speckle;Cytoplasmic vesicle NA PE1 2 +NX_Q14973 349 38119 9.07 8 Membrane NA PE1 14 +NX_Q14974 876 97170 4.68 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus envelope;Nucleus membrane NA PE1 17 +NX_Q14978 699 73603 9.46 0 Cytoplasm;Nucleolus NA PE1 10 +NX_Q14980 2115 238260 5.63 0 Nucleoplasm;Cell cortex;Cell membrane;Spindle pole;Cytosol;Nucleus matrix;Nucleus;Cytoskeleton;Centrosome;Chromosome;Lateral cell membrane NA PE1 11 +NX_Q14982 345 38008 6.45 0 Cell membrane Ovarian cancer PE1 11 +NX_Q14990 250 28366 8.46 0 NA NA PE1 8 +NX_Q14993 1142 115221 8.57 0 Extracellular matrix NA PE1 6 +NX_Q14994 352 39942 8.55 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA PE1 1 +NX_Q14995 579 64625 8.04 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q14997 1843 211334 6.45 0 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm NA PE1 2 +NX_Q14999 1698 191161 5.57 0 Cytoplasm;Perinuclear region;Centrosome;Golgi apparatus 3M syndrome 1 PE1 6 +NX_Q149M9 1564 174552 6.28 0 Cytosol NA PE1 19 +NX_Q149N8 1683 193079 7.3 0 Mitochondrion NA PE1 6 +NX_Q14BN4 828 95198 5.35 1 Sarcolemma;Centrosome;Endoplasmic reticulum NA PE1 3 +NX_Q14C86 1478 164980 5.09 0 Cytosol;Endosome;Membrane NA PE1 9 +NX_Q14C87 1099 122309 5.5 1 Membrane NA PE1 12 +NX_Q14CB8 494 55756 9.41 0 Nucleus;Cell membrane NA PE1 10 +NX_Q14CM0 1322 144379 5.12 0 Dendritic spine Mental retardation, X-linked 104 PE1 X +NX_Q14CN2 919 101283 5.27 1 Apical cell membrane;Cell membrane;Secreted NA PE1 1 +NX_Q14CN4 511 55877 6.53 0 NA NA PE1 12 +NX_Q14CS0 331 37077 5.49 0 Golgi apparatus;Cytosol;Endoplasmic reticulum;Nucleoplasm;Nucleus;Centrosome NA PE1 8 +NX_Q14CW9 347 38651 6.62 0 Nucleus speckle;Nucleus;Cell membrane NA PE1 17 +NX_Q14CX5 517 57381 8.21 11 Cytosol;Golgi apparatus;Membrane NA PE2 10 +NX_Q14CX7 972 112292 6.21 0 Cytosol;Cytoplasm;Golgi apparatus NA PE1 12 +NX_Q14CZ0 275 30926 7.77 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 16 +NX_Q14CZ7 662 75689 8.62 0 Mitochondrion;Nucleus NA PE1 5 +NX_Q14CZ8 416 46026 9.2 1 Cytoplasmic vesicle;Cytoplasm;Membrane Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A;Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B PE1 11 +NX_Q14D04 833 94745 6.26 0 Cytosol;Nucleolus;Nucleus;Cell membrane NA PE1 3 +NX_Q14D33 572 60488 6.12 1 Membrane NA PE1 2 +NX_Q14DG7 1078 119477 4.63 1 Membrane NA PE1 12 +NX_Q15003 741 82563 4.92 0 Cytosol;Cytoplasm;Nucleus;Chromosome Microcephaly 23, primary, autosomal recessive PE1 2 +NX_Q15004 111 11986 9.85 0 Perinuclear region;Nucleus;Centrosome NA PE1 15 +NX_Q15005 226 25003 8.69 2 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Cell membrane;Microsome membrane NA PE1 11 +NX_Q15006 297 34834 6.15 0 Cytoplasm;Nucleus NA PE1 8 +NX_Q15007 396 44244 5.12 0 Nucleoplasm;Nucleus speckle;Cytoplasm NA PE1 6 +NX_Q15008 389 45531 5.45 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Golgi apparatus NA PE1 3 +NX_Q15011 391 43720 5.11 2 Endoplasmic reticulum membrane;Cytosol;Cell membrane NA PE1 16 +NX_Q15012 233 26801 6.1 4 Cytoplasmic vesicle;Cell membrane;Golgi apparatus;Endomembrane system NA PE1 2 +NX_Q15013 274 31052 5.94 0 Spindle;Nucleolus;Nucleus;Nucleus membrane NA PE1 6 +NX_Q15014 288 32308 9.72 0 Nucleus NA PE1 X +NX_Q15018 415 46901 5.83 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Spindle pole NA PE1 10 +NX_Q15019 361 41487 6.15 0 Kinetochore;Cytoskeleton;Flagellum;Cleavage furrow;Cytoplasm;Cell cortex;Cilium membrane;Nucleus;Spindle;Midbody NA PE1 2 +NX_Q15020 963 109935 5.45 0 Nucleoplasm;Cajal body;Nucleus speckle;Cytoplasm NA PE1 12 +NX_Q15021 1401 157182 6.19 0 Cytosol;Cytoplasm;Nucleus;Chromosome Microcephaly 21, primary, autosomal recessive PE1 12 +NX_Q15022 739 83055 8.98 0 Nucleolus;Nucleus NA PE1 17 +NX_Q15024 291 31821 5.08 0 Nucleus speckle;Nucleolus;Nucleus;Cytoplasm NA PE1 3 +NX_Q15025 636 71864 6.23 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 5 +NX_Q15027 740 81536 7.6 0 Cytoplasm;Recycling endosome membrane;Golgi apparatus NA PE1 17 +NX_Q15029 972 109436 4.84 0 Nucleoplasm;Cytosol;Nucleus Mandibulofacial dysostosis with microcephaly PE1 17 +NX_Q15031 903 101976 8.46 0 Mitochondrion;Mitochondrion matrix;Nucleoplasm Hydrops, lactic acidosis, and sideroblastic anemia;Perrault syndrome 4 PE1 3 +NX_Q15032 1099 120696 8.91 0 Nucleoplasm;Cytosol NA PE1 2 +NX_Q15034 1050 117188 5.86 0 Cytoplasmic vesicle;Cytoplasm;Cytosol NA PE1 4 +NX_Q15035 370 43328 9.32 8 Cytosol;Membrane NA PE1 6 +NX_Q15036 470 52901 7.07 0 Cytoplasmic vesicle;Cytoplasm;Cytoplasmic vesicle membrane;Early endosome NA PE1 2 +NX_Q15038 168 17319 6.69 0 Nucleus speckle;Nucleus;Cytoplasm NA PE1 12 +NX_Q15040 202 23198 8.78 0 Cytoplasm;Cell membrane NA PE1 22 +NX_Q15041 203 23363 9.38 3 Endoplasmic reticulum membrane;Cytoplasm;Cell membrane;Endoplasmic reticulum;Endomembrane system Spastic paraplegia 61, autosomal recessive PE1 16 +NX_Q15042 981 110524 5.38 0 Cytosol;Nucleoplasm;Cytoplasm Warburg micro syndrome 1 PE1 2 +NX_Q15043 492 54212 5.16 6 Cytoplasm;Endoplasmic reticulum;Golgi apparatus;Cell membrane;Lamellipodium Hyperostosis cranialis interna;Hypermanganesemia with dystonia 2 PE1 8 +NX_Q15046 597 68048 5.94 0 Secreted;Cytosol;Cytoplasm;Cell membrane;Nucleus;Mitochondrion Charcot-Marie-Tooth disease, recessive, intermediate type, B;Deafness, autosomal recessive, 89 PE1 16 +NX_Q15047 1291 143157 5.74 0 Nucleoplasm;Cytosol;Nucleus;Chromosome NA PE1 1 +NX_Q15048 493 54513 6.43 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 8 +NX_Q15049 377 41141 7.46 8 Perinuclear region;Endoplasmic reticulum;Cell membrane;Membrane Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 PE1 22 +NX_Q15050 365 41193 10.69 0 Nucleolus NA PE1 8 +NX_Q15051 598 68929 9.19 0 Centriole;Spindle;Cytoskeleton;Centrosome Leber congenital amaurosis 10;Senior-Loken syndrome 5 PE1 3 +NX_Q15052 776 87499 5.79 0 Cytosol;Lamellipodium Mental retardation, X-linked 46 PE1 X +NX_Q15053 99 11435 9.54 1 Membrane NA PE1 1 +NX_Q15054 466 51400 9.38 0 Cytoplasm;Nucleus NA PE1 11 +NX_Q15056 248 27385 6.67 0 Cytosol;Cytoplasm;Perinuclear region;Nucleus;Nucleoplasm NA PE1 7 +NX_Q15057 778 88029 6.38 0 Endosome membrane;Endosome NA PE1 3 +NX_Q15058 1648 186492 8.06 0 Cytosol;Cytoplasm;Midbody ring;Nucleus;Spindle;Midbody Microcephaly 20, primary, autosomal recessive;Meckel syndrome 12 PE1 1 +NX_Q15059 726 79542 9.39 0 Nucleus NA PE1 9 +NX_Q15061 677 74891 5.37 0 Nucleolus;Nucleus NA PE1 2 +NX_Q15063 836 93314 7.27 0 Nucleoplasm;Extracellular matrix;Golgi apparatus;Secreted NA PE1 13 +NX_Q15067 660 74424 8.35 0 Cytoplasmic vesicle;Nucleus;Peroxisome Adrenoleukodystrophy, pseudoneonatal PE1 17 +NX_Q15070 435 48548 9.53 5 Mitochondrion;Mitochondrion inner membrane NA PE1 14 +NX_Q15072 292 33308 9.15 0 Nucleolus;Nucleus NA PE1 19 +NX_Q15075 1411 162466 5.55 0 Cytoplasmic vesicle;Cytoplasm;Early endosome membrane;Endoplasmic reticulum NA PE1 12 +NX_Q15077 328 36429 9.61 7 Cell membrane NA PE1 11 +NX_Q15078 307 34060 9.44 0 Cytoplasmic vesicle;Nucleoplasm;Perinuclear region;Nucleus;Cell membrane NA PE1 17 +NX_Q15080 339 39032 6.4 0 Endosome membrane;Cytosol;Membrane Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive PE1 22 +NX_Q15084 440 48121 4.95 0 Cytosol;Endoplasmic reticulum lumen;Melanosome;Cell membrane;Endoplasmic reticulum NA PE1 2 +NX_Q15102 231 25734 6.33 0 Cytoplasm;Cytoskeleton NA PE1 19 +NX_Q15109 404 42803 5.83 1 Nucleolus;Cell junction;Cell membrane;Secreted NA PE1 6 +NX_Q15111 1095 122728 5.46 0 Cytoplasm NA PE1 2 +NX_Q15113 449 47972 7.41 0 Cytoplasmic vesicle;Golgi apparatus;Secreted NA PE1 7 +NX_Q15116 288 31647 8.25 1 Membrane Systemic lupus erythematosus 2 PE1 2 +NX_Q15118 436 49244 8.92 0 Mitochondrion matrix;Mitochondrion;Nucleolus NA PE1 2 +NX_Q15119 407 46154 6.14 0 Mitochondrion;Mitochondrion matrix;Nucleoplasm NA PE1 17 +NX_Q15120 406 46939 8.46 0 Mitochondrion matrix;Mitochondrion;Nucleolus Charcot-Marie-Tooth disease, X-linked dominant, 6 PE1 X +NX_Q15121 130 15040 4.93 0 Cytosol;Cytoplasm;Nucleus NA PE1 1 +NX_Q15124 567 62225 6.81 0 Adherens junction;Cytoskeleton NA PE1 9 +NX_Q15125 230 26353 7.76 4 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nucleus envelope;Endoplasmic reticulum MEND syndrome;Chondrodysplasia punctata 2, X-linked dominant PE1 X +NX_Q15126 192 21995 5.56 0 Cytosol Porokeratosis 1, multiple types PE1 1 +NX_Q15131 360 41038 9.06 0 Nucleoplasm;Midbody ring;Midbody;Cilium basal body Al Kaissi syndrome PE1 16 +NX_Q15139 912 101704 6.16 0 Cytosol;Cytoplasm;trans-Golgi network;Cell membrane Congenital heart defects and ectodermal dysplasia PE1 14 +NX_Q15147 1175 134464 6.47 0 Nucleoplasm;Cytoskeleton Auriculocondylar syndrome 2 PE1 20 +NX_Q15149 4684 531791 5.74 0 Cytosol;Cytoplasm;Focal adhesion;Hemidesmosome;Cytoskeleton Limb-girdle muscular dystrophy 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia PE1 8 +NX_Q15154 2024 228544 4.95 0 Nucleus membrane;Cytosol;Cytoplasmic granule;Centriolar satellite;Cytoskeleton;Centrosome;Cilium basal body NA PE1 8 +NX_Q15155 1222 134324 5.54 1 Endoplasmic reticulum;Membrane NA PE1 16 +NX_Q15165 354 39381 5.33 0 Membrane NA PE1 7 +NX_Q15166 354 39607 5.24 0 Extracellular space NA PE1 7 +NX_Q15170 157 18354 11.2 0 Nucleoplasm;Nucleus NA PE1 X +NX_Q15172 486 56194 6.28 0 Cytosol;Cytoplasm;Centromere;Nucleus NA PE1 1 +NX_Q15173 497 57393 6.27 0 Cytoplasm NA PE1 11 +NX_Q15181 289 32660 5.54 0 Cytoplasmic vesicle;Cytoplasm NA PE1 10 +NX_Q15185 160 18697 4.35 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 12 +NX_Q15195 96 10915 6.11 0 Secreted NA PE2 2 +NX_Q15198 375 41861 8.75 0 Nucleolus;Nucleus;Golgi apparatus;Secreted Colorectal cancer PE1 8 +NX_Q15208 465 54190 6.7 0 Cytoplasm;Nucleus NA PE1 6 +NX_Q15223 517 57158 5.77 1 Presynaptic cell membrane;Cell membrane;Secreted Non-syndromic orofacial cleft 7;Ectodermal dysplasia, Margarita Island type PE1 11 +NX_Q15233 471 54232 9.01 0 Nucleoplasm;Nucleus speckle;Nucleolus;Nucleus Mental retardation, X-linked, syndromic, 34 PE1 X +NX_Q15238 335 37713 9 0 Secreted NA PE1 19 +NX_Q15256 657 73834 8.62 1 Cytosol;Perinuclear region;Cell junction;Cell membrane NA PE1 12 +NX_Q15257 358 40668 5.63 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 9 +NX_Q15262 1439 162102 5.59 1 Cytoplasmic vesicle;Adherens junction;Cell junction;Cell membrane NA PE1 6 +NX_Q15269 919 102452 5.76 0 Cytosol;Nucleolus NA PE1 21 +NX_Q15270 411 40659 5.93 0 Nucleus NA PE2 4 +NX_Q15274 297 30846 5.81 0 NA NA PE1 16 +NX_Q15276 862 99290 4.95 0 Cytoplasmic vesicle;Cytoplasm;Recycling endosome;Early endosome NA PE1 17 +NX_Q15283 850 96614 6.84 0 Cytoplasmic vesicle;Cytoplasm;Perinuclear region NA PE1 3 +NX_Q15286 201 23025 8.53 0 Clathrin-coated pit;Endosome;Clathrin-coated vesicle;Cell membrane;Melanosome NA PE1 12 +NX_Q15287 305 34208 11.85 0 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA PE1 16 +NX_Q15291 538 59153 4.96 0 Nucleolus;Nucleus NA PE1 1 +NX_Q15293 331 38890 4.86 0 Endoplasmic reticulum lumen;Endoplasmic reticulum NA PE1 11 +NX_Q15303 1308 146808 5.98 1 Mitochondrion;Nucleus;Cell membrane Amyotrophic lateral sclerosis 19 PE1 2 +NX_Q15306 451 51772 6.39 0 Nucleoplasm;Nucleus Multiple myeloma PE1 6 +NX_Q15311 655 76063 5.68 0 Cytosol;Cytoplasmic vesicle;Nucleus membrane;Membrane NA PE1 18 +NX_Q15319 338 37052 9.16 0 Nucleoplasm;Cytoplasm;Nucleus Deafness, autosomal dominant, 15 PE1 5 +NX_Q15323 416 47237 4.84 0 NA NA PE1 17 +NX_Q15326 602 70963 8.83 0 Nucleoplasm;Nucleus;Chromosome Mental retardation, autosomal dominant 30 PE1 10 +NX_Q15327 319 36252 7.12 0 Nucleolus;Nucleus Total anomalous pulmonary venous return PE1 10 +NX_Q15329 346 37610 4.94 0 Nucleolus;Nucleus NA PE1 8 +NX_Q15334 1064 115418 5.87 0 Axon;Golgi apparatus membrane;Cytoskeleton;Early endosome membrane;trans-Golgi network membrane NA PE1 17 +NX_Q15345 812 88650 8.75 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q15349 733 83239 8.82 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 6 +NX_Q15361 905 103051 9.41 0 Nucleolus;Nucleus NA PE1 9 +NX_Q15363 201 22761 5.08 1 Endoplasmic reticulum membrane;Golgi stack membrane;COPI-coated vesicle membrane;Cytoplasmic vesicle;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cytoplasmic vesicle membrane NA PE1 12 +NX_Q15365 356 37498 6.66 0 Cytosol;Nucleus speckle;Nucleus;Cytoplasm NA PE1 2 +NX_Q15366 365 38580 6.33 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 12 +NX_Q15369 112 12473 4.74 0 Nucleus;Cell junction NA PE1 8 +NX_Q15370 118 13133 4.73 0 Nucleus NA PE1 16 +NX_Q15375 998 112097 5.58 1 Cell membrane NA PE1 6 +NX_Q15382 184 20497 5.65 0 Endoplasmic reticulum membrane;Cytosol;Golgi apparatus membrane;Endomembrane system NA PE1 7 +NX_Q15386 1083 123923 6.27 0 Mitochondrion;Nucleoplasm;Nucleus;Cell membrane NA PE1 7 +NX_Q15388 145 16298 8.81 1 Mitochondrion;Mitochondrion outer membrane NA PE1 1 +NX_Q15389 498 57513 6.3 0 Secreted NA PE1 8 +NX_Q15390 333 37000 9.1 0 Cytosol;Mitochondrion NA PE1 8 +NX_Q15391 338 38971 9.54 7 Cell membrane NA PE2 3 +NX_Q15392 516 60101 8.42 1 Endoplasmic reticulum membrane;Golgi apparatus membrane Desmosterolosis PE1 1 +NX_Q15393 1217 135577 5.13 0 Nucleolus;Nucleus NA PE1 16 +NX_Q15397 648 73584 9.65 0 Nucleoplasm;Nucleolus;Chromosome NA PE1 9 +NX_Q15398 846 95115 9.11 0 Cytosol;Cytoplasm;Spindle;Nucleus;Microtubule organizing center NA PE1 14 +NX_Q15399 786 90291 6.62 1 Phagosome membrane;Golgi apparatus;Membrane raft;Cell membrane NA PE1 4 +NX_Q15404 277 31540 8.57 0 Cytoplasmic vesicle NA PE1 10 +NX_Q15406 480 54383 5.87 0 Nucleus NA PE1 9 +NX_Q15413 4870 552042 5.47 7 Cytoplasmic vesicle;Microsome membrane;Sarcoplasmic reticulum;Sarcoplasmic reticulum membrane;Membrane NA PE1 15 +NX_Q15415 496 55728 9.89 0 Nucleus NA PE1 Y +NX_Q15417 329 36414 5.69 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA PE1 1 +NX_Q15418 735 82723 7.68 0 Cytosol;Cytoplasm;Nucleus NA PE1 1 +NX_Q15424 915 102642 5.32 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q15427 424 44386 8.55 0 Nucleus speckle;Nucleus Acrofacial dysostosis 1, Nager type PE1 1 +NX_Q15428 464 49256 9.65 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q15431 976 114192 5.78 0 Centromere;Nucleus;Chromosome NA PE1 1 +NX_Q15434 407 43959 9.15 0 Cytosol;Nucleolus;Nucleus NA PE1 12 +NX_Q15435 360 41564 4.84 0 Nucleolus;Nucleus NA PE1 2 +NX_Q15436 765 86161 6.64 0 Cytoplasmic vesicle;Nucleoplasm;COPII-coated vesicle membrane;Endoplasmic reticulum membrane;Cytosol Craniolenticulosutural dysplasia PE1 14 +NX_Q15437 767 86479 6.43 0 Cytosol;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Cytoplasmic vesicle Cowden syndrome 7;Anemia, congenital dyserythropoietic, 2 PE1 20 +NX_Q15438 398 46413 5.41 0 Nucleolus;Cytosol;Cell membrane;Nucleus;Adherens junction;Tight junction NA PE1 17 +NX_Q15459 793 88886 5.15 0 Nucleus speckle;Nucleus NA PE1 22 +NX_Q15464 509 55042 9.1 0 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA PE1 9 +NX_Q15465 462 49607 8.1 0 Cell membrane Hypoplasia or aplasia of tibia with polydactyly;Preaxial polydactyly 2;Microphthalmia, isolated, with coloboma, 5;Holoprosencephaly 3;Laurin-Sandrow syndrome;Triphalangeal thumb-polysyndactyly syndrome;Solitary median maxillary central incisor PE1 7 +NX_Q15466 257 28058 8.28 0 Cytoplasm;Nucleus Obesity PE1 1 +NX_Q15468 1287 142955 6.01 0 Cytosol;Centriole;Cell membrane Microcephaly 7, primary, autosomal recessive PE1 1 +NX_Q15475 284 32210 9.24 0 Cytoplasm;Nucleolus;Nucleus Deafness, autosomal dominant, 23;Branchiootic syndrome 3 PE1 14 +NX_Q15477 1246 137755 5.72 0 Nucleoplasm;Cytoplasm;Nucleus Trichohepatoenteric syndrome 2 PE1 6 +NX_Q15485 313 34001 6.31 0 Secreted NA PE1 9 +NX_Q15486 140 15381 5.71 0 NA NA PE5 5 +NX_Q15493 299 33253 5.89 0 Cytoplasm;Nucleus NA PE1 X +NX_Q15506 151 17406 4.76 0 Cytoplasmic vesicle;Membrane NA PE1 11 +NX_Q15513 63 7515 8.46 0 NA NA PE4 1 +NX_Q15517 529 51522 8.69 0 Secreted Peeling skin syndrome 1;Hypotrichosis 2 PE1 6 +NX_Q15526 300 33331 9.64 2 Mitochondrion inner membrane Charcot-Marie-Tooth disease 4K;Leigh syndrome PE1 9 +NX_Q15527 256 29648 9.33 0 Nucleolus;Nucleus NA PE1 9 +NX_Q15528 200 22221 4.56 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q15532 418 45929 5.95 0 Nucleoplasm;Cytosol;Nucleus NA PE1 18 +NX_Q15542 800 86830 5.4 0 Nucleoplasm;Nucleus NA PE1 10 +NX_Q15543 124 14287 4.72 0 Nucleolus;Nucleus Mental retardation, autosomal recessive 60 PE1 1 +NX_Q15544 211 23307 4.78 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 6 +NX_Q15545 349 40259 5.07 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 5 +NX_Q15546 238 27667 9.09 7 Cytoplasmic vesicle;Lysosome membrane;Late endosome membrane NA PE2 17 +NX_Q15554 542 59594 9.38 0 Nucleus;Telomere NA PE1 16 +NX_Q15555 327 37031 5.36 0 Nucleoplasm;Cytoskeleton Skin creases, congenital symmetric circumferential, 2 PE1 18 +NX_Q15560 299 33601 9.32 0 Nucleoplasm;Nucleus;Centrosome NA PE1 20 +NX_Q15561 434 48329 6.88 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q15562 447 49243 6.06 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q15569 626 67684 8.44 0 NA NA PE1 9 +NX_Q15572 869 95213 8.91 0 Nucleolus;Nucleus NA PE1 16 +NX_Q15573 450 52676 9.15 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q15582 683 74681 7.62 0 Secreted;Extracellular matrix Corneal dystrophy, lattice type 1;Corneal dystrophy, Avellino type;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, lattice type 3A;Corneal dystrophy, Thiel-Behnke type;Corneal dystrophy, epithelial basement membrane;Corneal dystrophy, Groenouw type 1 PE1 5 +NX_Q15583 401 43013 9.17 0 Nucleoplasm;Nucleus Holoprosencephaly 4 PE1 18 +NX_Q15596 1464 159157 6.19 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q15599 337 37414 7.8 0 Apical cell membrane;Nucleus;Cell membrane;Endomembrane system NA PE1 16 +NX_Q155Q3 683 77478 5.85 0 Cytosol;Cytoplasm;Focal adhesion;Stress fiber NA PE1 11 +NX_Q15612 314 35598 9.12 7 Cell membrane NA PE2 9 +NX_Q15615 310 35240 8.74 7 Cell membrane NA PE2 17 +NX_Q15617 311 34904 8.37 7 Cell membrane NA PE2 11 +NX_Q15619 314 35042 8.18 7 Cell membrane NA PE2 1 +NX_Q15620 311 34482 8.28 7 Cell membrane NA PE2 11 +NX_Q15622 319 35579 8.33 7 Cell membrane NA PE2 19 +NX_Q15628 312 34247 5.94 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA PE1 16 +NX_Q15629 374 43072 9.65 8 Endoplasmic reticulum membrane NA PE1 8 +NX_Q15631 228 26183 6.01 0 Cytoplasm;Nucleus NA PE1 2 +NX_Q15633 366 39039 6.11 0 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus NA PE1 12 +NX_Q15637 639 68330 9.07 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q15642 601 68352 5.55 0 Phagocytic cup;Golgi apparatus;Lysosome;Nucleoplasm;Cell cortex;Cell membrane;Cytoplasmic vesicle;Perinuclear region;Cytoskeleton NA PE1 19 +NX_Q15643 1979 227586 5.18 0 cis-Golgi network membrane;Cytoskeleton;Nucleus;Golgi apparatus Achondrogenesis 1A PE1 14 +NX_Q15645 432 48551 5.73 0 Nucleus Mosaic variegated aneuploidy syndrome 3 PE1 5 +NX_Q15646 514 59226 7.96 0 Cytosol;Cytoplasm;Nucleolus;Nucleoplasm NA PE1 12 +NX_Q15648 1581 168478 8.88 0 Nucleoplasm;Nucleus NA PE1 17 +NX_Q15649 155 17607 5.51 0 Mitochondrion;Cytoplasm;Nucleus PEHO syndrome PE1 17 +NX_Q15650 581 66146 8.05 0 Nucleoplasm;Cytosol;Nucleus;Centrosome Spinal muscular atrophy with congenital bone fractures 1;Muscular dystrophy, congenital, Davignon-Chauveau type PE1 15 +NX_Q15651 99 10666 9.66 0 Cytosol;Nucleus NA PE1 6 +NX_Q15652 2540 284525 7.95 0 Nucleoplasm;Cytosol;Nucleus NA PE1 10 +NX_Q15653 356 37771 4.7 0 Cytosol;Cytoplasm;Nucleus;Centrosome;Nucleoplasm NA PE1 19 +NX_Q15654 476 50288 7.19 0 Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Nucleus;Cytoskeleton NA PE1 7 +NX_Q15661 275 30515 6.62 0 Secreted NA PE1 16 +NX_Q15669 191 21331 9.17 0 Cytoplasm;Cell membrane NA PE1 4 +NX_Q15672 202 20954 9.48 0 Nucleus Saethre-Chotzen syndrome;Sweeney-Cox syndrome;Robinow-Sorauf syndrome;Craniosynostosis 1 PE1 7 +NX_Q15678 1187 135261 8.53 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus Choanal atresia and lymphedema PE1 1 +NX_Q15691 268 29999 5.02 0 Cytosol;Cytoskeleton;Centrosome;Golgi apparatus;Microtubule organizing center NA PE1 20 +NX_Q15695 479 57643 9.44 0 Nucleus NA PE5 5 +NX_Q15696 482 58045 9.75 0 Nucleus NA PE1 X +NX_Q15697 407 46455 9.66 0 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus NA PE1 16 +NX_Q15699 326 36961 8.8 0 Nucleoplasm;Nucleus;Golgi apparatus Frontonasal dysplasia 3 PE1 12 +NX_Q156A1 80 10272 5.28 0 Nucleus Spinocerebellar ataxia 8 PE1 13 +NX_Q15700 870 97552 6.03 0 Axon;Synapse;Cell membrane;Cytoplasmic vesicle;Membrane;Postsynaptic density NA PE1 11 +NX_Q15714 1073 109677 5.38 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 13 +NX_Q15717 326 36092 9.23 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Stress granule NA PE1 19 +NX_Q15722 352 37557 11.11 7 Cell membrane NA PE1 14 +NX_Q15723 593 63967 6.15 0 Nucleoplasm;Nucleus NA PE1 4 +NX_Q15726 138 14705 10.17 0 Cytoplasmic vesicle;Secreted Hypogonadotropic hypogonadism 13 with or without anosmia PE1 1 +NX_Q15735 1006 107197 9.22 0 Cytosol;Cytoplasm;Nucleolus NA PE1 22 +NX_Q15738 373 41900 8.16 1 Endoplasmic reticulum membrane;Lipid droplet;Endoplasmic reticulum CK syndrome;Congenital hemidysplasia with ichthyosiform erythroderma and limb defects PE1 X +NX_Q15742 525 56594 6.5 0 Cytosol;Nucleus NA PE1 12 +NX_Q15743 365 41077 7.87 7 Cell membrane Amelogenesis imperfecta, hypomaturation type, 2A6 PE1 14 +NX_Q15744 281 30603 9.13 0 Nucleoplasm;Nucleus Specific granule deficiency 1 PE1 14 +NX_Q15746 1914 210715 5.85 0 Stress fiber;Cleavage furrow;Cytoplasm;Cell membrane;Lamellipodium;Cytoskeleton Aortic aneurysm, familial thoracic 7 PE1 3 +NX_Q15750 504 54644 5.31 0 Cytosol;Nucleus speckle NA PE1 22 +NX_Q15751 4861 532228 5.69 0 Cytosol;Golgi apparatus;Membrane Macrocephaly, dysmorphic facies, and psychomotor retardation PE1 15 +NX_Q15758 541 56598 5.34 8 Melanosome;Cell membrane NA PE1 19 +NX_Q15759 364 41357 5.56 0 Mitochondrion;Cytoplasm;Nucleus NA PE1 22 +NX_Q15760 415 47687 9.6 7 Cell membrane NA PE1 12 +NX_Q15761 445 50727 9 7 Cell membrane NA PE2 4 +NX_Q15762 336 38614 8.11 1 Midbody;Cell membrane NA PE1 18 +NX_Q15768 340 35835 8.85 1 Nucleoplasm;Membrane NA PE1 17 +NX_Q15771 203 23058 4.91 0 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus;trans-Golgi network;Membrane NA PE1 11 +NX_Q15772 3267 354289 8.82 0 Cytoplasmic vesicle;Nucleus Myopathy, centronuclear, 5 PE1 2 +NX_Q15773 248 28147 6.4 0 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA PE1 12 +NX_Q15776 578 65816 7.04 0 Cytosol;Nucleus NA PE1 6 +NX_Q15777 294 33360 5.85 0 Cytoplasmic vesicle;Mitochondrion;Nucleolus NA PE1 11 +NX_Q15782 390 43501 7.11 0 Secreted NA PE1 1 +NX_Q15784 382 41361 6.29 0 Nucleus NA PE1 17 +NX_Q15785 309 34559 9.12 0 Cytosol;Cytoplasm;Mitochondrion outer membrane NA PE1 20 +NX_Q15788 1441 156757 5.84 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA PE1 2 +NX_Q15796 467 52306 6.13 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 18 +NX_Q15797 465 52260 6.9 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 4 +NX_Q15800 293 35216 6.75 3 Endoplasmic reticulum membrane Microcephaly, congenital cataract, and psoriasiform dermatitis PE1 4 +NX_Q15811 1721 195422 7.76 0 Synaptosome;Cytoplasm;Clathrin-coated pit;Nucleus envelope;Cell membrane;Endomembrane system;Lamellipodium NA PE1 21 +NX_Q15813 527 59346 6.32 0 Cytoplasm;Cytoskeleton Kenny-Caffey syndrome 1;Hypoparathyroidism-retardation-dysmorphism syndrome;Encephalopathy, progressive, with amyotrophy and optic atrophy PE1 1 +NX_Q15814 346 39248 5.55 0 Cytosol;Cytoplasm NA PE1 6 +NX_Q15818 432 47122 6.16 0 Secretory vesicle NA PE1 17 +NX_Q15819 145 16363 7.79 0 Cytoplasm;Nucleus NA PE1 8 +NX_Q15822 529 59765 5.69 4 Postsynaptic cell membrane;Cell membrane Epilepsy, nocturnal frontal lobe, 4;Seizures, benign familial infantile, 6 PE1 8 +NX_Q15825 494 56898 6.16 4 Postsynaptic cell membrane;Cell membrane NA PE1 8 +NX_Q15828 149 16511 8.32 0 Cytosol;Cell membrane;Secreted NA PE1 11 +NX_Q15831 433 48636 7.12 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Membrane;Mitochondrion Peutz-Jeghers syndrome;Testicular germ cell tumor PE1 19 +NX_Q15833 593 66453 6.11 0 Cytosol Familial hemophagocytic lymphohistiocytosis 5 PE1 19 +NX_Q15834 202 22091 5.06 0 Nucleus;Centrosome NA PE1 11 +NX_Q15835 563 63526 5.63 0 Membrane Night blindness, congenital stationary, Oguchi type 2 PE1 13 +NX_Q15836 100 11309 8.89 1 Synaptosome;Membrane NA PE1 1 +NX_Q15842 424 47968 9.38 2 Membrane Sudden infant death syndrome;Hypertrichotic osteochondrodysplasia PE1 12 +NX_Q15843 81 9072 7.99 0 Cytosol;Nucleoplasm;Nucleus NA PE1 14 +NX_Q15846 466 54215 5.09 0 Cell membrane;Endoplasmic reticulum;Secreted NA PE1 18 +NX_Q15847 76 7855 5.17 0 Nucleoplasm;Cytosol;Nucleus NA PE1 10 +NX_Q15848 244 26414 5.42 0 Secreted Adiponectin deficiency;Diabetes mellitus, non-insulin-dependent PE1 3 +NX_Q15849 920 101209 6.51 17 Apical cell membrane NA PE1 18 +NX_Q15853 346 36955 4.97 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_Q15858 1988 226372 6.55 24 Focal adhesion;Cell projection;Cytoskeleton;Cell membrane Primary erythermalgia;Generalized epilepsy with febrile seizures plus 7;Indifference to pain, congenital, autosomal recessive;Paroxysmal extreme pain disorder;Febrile seizures, familial, 3B PE1 2 +NX_Q15878 2313 261731 8.52 24 Cytosol;Cytoskeleton;Cell membrane;Membrane NA PE1 1 +NX_Q15884 450 49703 6.57 1 Membrane NA PE1 9 +NX_Q15904 470 52026 5.73 1 Endoplasmic reticulum membrane;Cytosol;Cell membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum;Cytoskeleton Immunodeficiency 47 PE1 X +NX_Q15906 364 40594 6.09 0 Nucleus speckle;Nucleus NA PE1 1 +NX_Q15907 218 24489 5.64 0 Cytoplasmic vesicle;Phagosome membrane;Synaptic vesicle membrane;Recycling endosome membrane;Microtubule organizing center Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter PE1 19 +NX_Q15910 746 85363 6.65 0 Nucleoplasm;Nucleus Weaver syndrome PE1 7 +NX_Q15911 3703 404419 5.82 0 Cytoplasm;Nucleus NA PE1 16 +NX_Q15915 447 48309 8.7 0 Nucleoplasm;Cytoplasm;Nucleus Craniosynostosis 6 PE1 3 +NX_Q15916 424 48236 6.29 0 Mitochondrion;Nucleoplasm;Nucleus NA PE1 9 +NX_Q15928 474 55249 9.43 0 Nucleus Polydactyly, postaxial A6 PE1 4 +NX_Q15929 161 18651 8.85 0 Nucleus NA PE5 19 +NX_Q15935 545 61964 9.04 0 Nucleolus;Nucleus NA PE1 19 +NX_Q15937 498 55350 8.54 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA PE1 9 +NX_Q15940 193 22988 9.85 0 NA NA PE5 19 +NX_Q15942 572 61277 6.22 0 Cytoplasm;Focal adhesion;Nucleus;Cytoskeleton NA PE1 7 +NX_Q15973 351 40217 9.11 0 Nucleus;Nucleus membrane NA PE1 1 +NX_Q16048 86 9715 6.72 0 NA NA PE5 5 +NX_Q16082 182 20233 5.07 0 Cytoplasm;Nucleus NA PE1 11 +NX_Q16099 956 107246 6.3 3 Postsynaptic cell membrane;Cell membrane NA PE2 11 +NX_Q16134 617 68495 7.31 0 Mitochondrion inner membrane Glutaric aciduria 2C PE1 4 +NX_Q16143 134 14288 4.41 0 Cytoplasm NA PE1 5 +NX_Q16181 437 50680 8.76 0 Kinetochore;Nucleolus;Flagellum;Cleavage furrow;Cytoplasm;Midbody;Cilium axoneme;Spindle;Cytoskeleton NA PE1 7 +NX_Q16186 407 42153 4.96 0 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA PE1 20 +NX_Q16204 474 53291 6.87 0 Cytosol;Cytoplasm;Cytoskeleton NA PE1 10 +NX_Q16206 610 70082 5.67 0 Extracellular space;Cytoskeleton;Nucleus;Cell membrane NA PE1 X +NX_Q16222 522 58769 5.92 0 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA PE1 1 +NX_Q16236 605 67827 4.67 0 Cytosol;Cytoplasm;Nucleus;Cell membrane Immunodeficiency, developmental delay, and hypohomocysteinemia PE1 2 +NX_Q16254 413 43960 4.66 0 Nucleoplasm;Nucleus NA PE1 16 +NX_Q16270 282 29130 8.25 0 Golgi apparatus;Secreted Retinal arterial macroaneurysm with supravalvular pulmonic stenosis PE1 4 +NX_Q16280 664 76048 5.88 6 Membrane NA PE2 X +NX_Q16281 694 78838 7.56 6 Membrane Achromatopsia 2 PE1 2 +NX_Q16288 839 94428 6.12 1 Nucleolus;Nucleus membrane;Membrane NA PE1 15 +NX_Q16322 511 57785 4.85 6 Cytosol;Nucleoplasm;Membrane NA PE1 1 +NX_Q16342 344 38592 5.25 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 6 +NX_Q16348 729 81783 8.4 12 Cell membrane NA PE1 3 +NX_Q16352 499 55391 5.34 0 Nucleoplasm;Cytoskeleton;Nucleus membrane NA PE1 10 +NX_Q16363 1823 202524 5.89 0 Cytosol;Basement membrane;Cell membrane Cardiomyopathy, dilated 1JJ PE1 6 +NX_Q16378 134 15097 6.5 0 Cytoplasmic vesicle;Secreted NA PE1 12 +NX_Q16384 188 21931 9.46 0 NA NA PE1 X +NX_Q16385 188 21620 5.61 0 Nucleus NA PE1 X +NX_Q16394 746 86255 9.16 1 Endoplasmic reticulum membrane;Golgi apparatus membrane Chondrosarcoma;Hereditary multiple exostoses 1;Tricho-rhino-phalangeal syndrome 2 PE1 8 +NX_Q16401 504 56196 5.35 0 Cytosol;Nucleus NA PE1 9 +NX_Q16445 453 51024 8.39 4 Postsynaptic cell membrane;Cell membrane NA PE2 5 +NX_Q16473 311 33740 5.29 0 NA NA PE5 6 +NX_Q16478 980 109265 8.54 3 Postsynaptic cell membrane;Nucleus;Cell membrane NA PE1 19 +NX_Q16512 942 103932 5.99 0 Endosome;Cleavage furrow;Cytosol;Cytoplasm;Cell membrane;Nucleus;Midbody NA PE1 19 +NX_Q16513 984 112035 5.95 0 Cleavage furrow;Cytosol;Cytoplasm;Cell membrane;Midbody;Nucleoplasm;Nucleus;Membrane;Lamellipodium;Cytoskeleton;Cell junction NA PE1 1 +NX_Q16514 161 17924 7.78 0 Nucleus NA PE1 1 +NX_Q16515 512 57709 5.07 2 Cell membrane NA PE1 17 +NX_Q16517 81 9237 10.17 0 NA NA PE2 20 +NX_Q16518 533 60948 6.05 0 Microsome membrane;Cell membrane;Cytoplasm Leber congenital amaurosis 2;Retinitis pigmentosa 20 PE1 1 +NX_Q16520 125 14120 8.82 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 14 +NX_Q16526 586 66395 8.27 0 Cytoplasm;Cytoskeleton;Nucleus;Nucleus membrane Delayed sleep phase syndrome PE1 12 +NX_Q16527 193 20954 8.95 0 Nucleus NA PE1 12 +NX_Q16531 1140 126968 5.14 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 11 +NX_Q16533 368 42994 9.53 0 Nucleolus;Nucleus NA PE1 14 +NX_Q16534 295 33199 7.76 0 Nucleus NA PE2 17 +NX_Q16537 467 54699 6.51 0 Cytosol;Cytoplasm NA PE1 14 +NX_Q16538 588 63930 8.83 7 Cell membrane;Microtubule organizing center NA PE1 12 +NX_Q16539 360 41293 5.48 0 Nucleus speckle;Nucleus;Cytoplasm NA PE1 6 +NX_Q16540 153 17781 9.69 0 Mitochondrion;Nucleolus NA PE1 11 +NX_Q16543 378 44468 5.17 0 Cytosol;Cytoplasm;Nucleus NA PE1 19 +NX_Q16548 175 20132 5.32 0 Cytoplasm NA PE1 15 +NX_Q16549 785 86247 5.51 1 Nucleus;Nucleolus;trans-Golgi network membrane;Nucleus membrane NA PE1 11 +NX_Q16552 155 17504 8.82 0 Secreted NA PE1 6 +NX_Q16553 131 13507 8.06 0 Cell membrane NA PE1 8 +NX_Q16555 572 62294 5.95 0 Cytosol;Cytoskeleton;Cell membrane;Membrane NA PE1 8 +NX_Q16557 428 47945 8.74 0 Secreted NA PE1 19 +NX_Q16558 191 21797 9.12 2 Membrane NA PE1 5 +NX_Q16559 108 12291 10.48 0 Cytosol NA PE1 9 +NX_Q16560 246 29450 9.86 0 Nucleolus;Nucleus NA PE1 12 +NX_Q16563 259 28565 8.69 4 Cytoplasmic vesicle membrane;Melanosome NA PE1 7 +NX_Q16566 473 51926 5.6 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA PE1 5 +NX_Q16568 116 12829 8.55 0 Secreted NA PE1 5 +NX_Q16570 336 35553 6.1 7 Recycling endosome;Early endosome;Membrane NA PE1 1 +NX_Q16572 532 56903 5.81 12 Membrane Myasthenic syndrome, congenital, 21, presynaptic PE1 10 +NX_Q16576 425 47820 4.89 0 Nucleus NA PE1 X +NX_Q16581 482 53864 6.2 7 Cell membrane NA PE1 12 +NX_Q16584 847 92688 8.4 0 Cytosol;Centrosome;Microtubule organizing center NA PE1 11 +NX_Q16585 318 34777 8.86 1 Cytosol;Cytoskeleton;Sarcolemma Limb-girdle muscular dystrophy 2E PE1 4 +NX_Q16586 387 42875 5.5 1 Cytoskeleton;Sarcolemma Limb-girdle muscular dystrophy 2D PE1 17 +NX_Q16587 644 72207 8.77 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 22 +NX_Q16589 344 38866 5.33 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 4 +NX_Q16594 264 28974 8.77 0 Nucleus NA PE1 5 +NX_Q16595 210 23135 8.8 0 Cytosol;Mitochondrion Friedreich ataxia PE1 9 +NX_Q16600 458 51591 7.71 0 Nucleus NA PE1 10 +NX_Q16602 461 52929 6.27 7 Cell membrane NA PE1 2 +NX_Q16609 132 14886 5.21 0 Secreted NA PE5 6 +NX_Q16610 540 60674 6.25 0 Nucleoplasm;Cytosol;Extracellular matrix Lipoid proteinosis PE1 1 +NX_Q16611 211 23409 5.66 1 Mitochondrion outer membrane NA PE1 6 +NX_Q16612 68 7909 9.16 0 Cytoplasmic vesicle;Cytoplasm NA PE1 5 +NX_Q16613 207 23344 7.2 0 Cytosol;Cytoplasm NA PE1 17 +NX_Q16617 165 17665 5.88 4 Cytoplasmic vesicle;Cytoplasmic granule membrane;Cell membrane NA PE1 19 +NX_Q16619 201 21227 9.18 0 Secreted NA PE1 16 +NX_Q16620 822 91999 6.01 1 Axon;Cytosol;Early endosome membrane;Cell membrane;Endosome membrane;Dendrite;Perinuclear region Epileptic encephalopathy, early infantile, 58;Obesity, hyperphagia, and developmental delay PE1 9 +NX_Q16621 373 41473 4.89 0 Nucleoplasm;Cytoplasm;Cytoskeleton;PML body NA PE1 12 +NX_Q16623 288 33023 5.14 1 Synaptosome;Synaptic vesicle membrane;Cell membrane;Secreted NA PE1 7 +NX_Q16625 522 59144 5.77 4 Tight junction;Cell membrane;Cell junction Pseudo-TORCH syndrome 1 PE1 5 +NX_Q16626 185 19905 4.13 0 Cytosol;Nucleus NA PE1 6 +NX_Q16627 93 10678 8.95 0 Secreted NA PE1 17 +NX_Q16629 238 27367 11.83 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 2 +NX_Q16630 551 59210 6.66 0 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA PE1 12 +NX_Q16633 256 27436 4.87 0 Nucleus NA PE1 11 +NX_Q16635 292 33459 9.1 1 Cytoplasm;Cell membrane;Endoplasmic reticulum;Membrane Barth syndrome PE1 X +NX_Q16637 294 31849 6.13 0 Cajal body;Perikaryon;Cytoplasm;Cytoplasmic granule;Gem;Cell projection;Z line Spinal muscular atrophy 4;Spinal muscular atrophy 1;Spinal muscular atrophy 3;Spinal muscular atrophy 2 PE1 5 +NX_Q16643 649 71429 4.41 0 Cytoplasm;Cell cortex;Cell membrane;Cell junction;Cytoskeleton;Cell projection;Growth cone NA PE1 5 +NX_Q16644 382 42987 6.87 0 Nucleoplasm;Cytoplasm;Nucleus Macular dystrophy, patterned, 3 PE1 3 +NX_Q16647 500 57104 6.8 1 Endoplasmic reticulum membrane;Endoplasmic reticulum Essential hypertension PE1 20 +NX_Q16649 462 51472 6.7 0 Nucleus NA PE1 9 +NX_Q16650 682 74053 6.89 0 Nucleus NA PE1 2 +NX_Q16651 343 36431 5.52 1 Cytosol;Extracellular space;Cell membrane NA PE1 16 +NX_Q16653 247 28193 8.87 2 Cell membrane Narcolepsy 7 PE1 6 +NX_Q16654 411 46469 6.19 0 Mitochondrion matrix NA PE1 7 +NX_Q16655 118 13157 8.29 1 Endoplasmic reticulum membrane;Melanosome;trans-Golgi network membrane;Golgi apparatus NA PE1 9 +NX_Q16656 503 53541 4.94 0 Nucleoplasm;Cytosol;Nucleus NA PE1 7 +NX_Q16658 493 54530 6.84 0 Stress fiber;Cytosol;Cell membrane;Cell junction;Microvillus;Filopodium;Cytoskeleton;Invadopodium NA PE1 7 +NX_Q16659 721 82681 4.91 0 Cytosol;Cytoplasm;Nucleus NA PE1 15 +NX_Q16661 112 12069 6.02 0 Secreted NA PE1 1 +NX_Q16663 113 12248 8.49 0 Cytoplasmic vesicle;Golgi apparatus;Secreted NA PE1 17 +NX_Q16665 826 92670 5.17 0 Nucleoplasm;Nucleus speckle;Nucleus;Cell membrane;Cytoplasm NA PE1 14 +NX_Q16666 785 88256 9.31 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 1 +NX_Q16667 212 23805 5.97 0 Cytosol;Cytoplasm;Perinuclear region Hepatocellular carcinoma PE1 14 +NX_Q16670 478 55254 8.36 0 Nucleolus;Nucleus NA PE1 6 +NX_Q16671 573 62750 5.53 1 Membrane Persistent Muellerian duct syndrome 2 PE1 12 +NX_Q16674 131 14509 9.04 0 Secreted NA PE1 19 +NX_Q16676 465 46140 5.03 0 Nucleus NA PE1 5 +NX_Q16678 543 60846 9.18 0 Endoplasmic reticulum membrane;Microsome membrane;Mitochondrion Anterior segment dysgenesis 6;Glaucoma 1, open angle, A;Glaucoma 3, primary congenital, A PE1 2 +NX_Q16690 384 42047 8.69 0 Nucleus NA PE1 10 +NX_Q16695 136 15508 11.13 0 Nucleoplasm;Nucleus;Chromosome NA PE1 1 +NX_Q16696 494 56688 9.31 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 19 +NX_Q16698 335 36068 9.35 0 Cytosol;Mitochondrion 2,4-dienoyl-CoA reductase deficiency PE1 8 +NX_Q16706 1144 131141 7.24 1 Golgi apparatus membrane;Golgi apparatus NA PE1 5 +NX_Q16718 116 13459 5.75 0 Mitochondrion inner membrane NA PE1 7 +NX_Q16719 465 52352 6.56 0 Cytosol;Nucleoplasm Hydroxykynureninuria;Vertebral, cardiac, renal, and limb defects syndrome 2 PE1 2 +NX_Q16720 1220 134197 5.45 10 Golgi apparatus;Cell membrane Spinocerebellar ataxia, X-linked 1 PE1 X +NX_Q16739 394 44854 7.94 5 Cytoplasm;Golgi apparatus membrane;Cell membrane NA PE1 9 +NX_Q16740 277 30180 8.26 0 Mitochondrion matrix;Mitochondrion Perrault syndrome 3 PE1 19 +NX_Q16760 1214 134525 7.62 0 Cytosol;Cytoplasm;Membrane NA PE1 2 +NX_Q16762 297 33429 6.77 0 Mitochondrion matrix;Mitochondrion NA PE1 22 +NX_Q16763 222 23845 8.45 0 Nucleoplasm;Cell membrane NA PE1 19 +NX_Q16769 361 40877 6.12 0 Cytosol;Secreted NA PE1 2 +NX_Q16772 222 25302 9.21 0 Cytoplasm NA PE1 6 +NX_Q16773 422 47875 6.02 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 9 +NX_Q16774 197 21726 6.11 0 NA NA PE1 1 +NX_Q16775 308 33806 8.34 0 Mitochondrion matrix;Cytoplasm NA PE1 16 +NX_Q16777 129 13988 10.9 0 Nucleus;Chromosome NA PE1 1 +NX_Q16778 126 13920 10.31 0 Nucleus;Chromosome NA PE1 1 +NX_Q16787 3333 366649 7.03 0 Basement membrane;Endoplasmic reticulum Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional, Herlitz type PE1 18 +NX_Q16790 459 49698 4.64 1 Cytosol;Microvillus membrane;Nucleolus;Nucleus;Cell membrane NA PE1 9 +NX_Q16795 377 42510 9.81 0 Mitochondrion matrix;Nucleoplasm;Mitochondrion Leigh syndrome PE1 12 +NX_Q16798 604 67068 8.16 0 Mitochondrion matrix NA PE1 11 +NX_Q16799 776 83618 4.62 2 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 14 +NX_Q16816 387 45024 6.4 0 NA NA PE1 7 +NX_Q16819 746 84419 5.43 1 Membrane NA PE1 6 +NX_Q16820 701 79571 5.45 1 Cell membrane;Secreted NA PE1 18 +NX_Q16821 1122 125767 4.91 1 Membrane Diabetes mellitus, non-insulin-dependent PE1 7 +NX_Q16822 640 70699 7.57 0 Mitochondrion Mitochondrial phosphoenolpyruvate carboxykinase deficiency PE1 14 +NX_Q16825 1174 133281 8 0 Golgi apparatus;Cytosol;Cell membrane;Microtubule organizing center;Nucleoplasm;Cytoskeleton NA PE1 14 +NX_Q16827 1216 138344 5.68 1 Membrane Nephrotic syndrome 6 PE1 12 +NX_Q16828 381 42320 4.75 0 Cytosol;Nucleoplasm;Cytoplasm Hypogonadotropic hypogonadism 19 with or without anosmia PE1 12 +NX_Q16829 419 44957 5.73 0 Cytoplasm NA PE1 3 +NX_Q16831 310 33934 8.17 0 Nucleoplasm NA PE1 7 +NX_Q16832 855 96736 5.2 1 Cytoskeleton;Cell membrane Spondyloepimetaphyseal dysplasia short limb-hand type PE1 1 +NX_Q16836 314 34294 8.88 0 Mitochondrion matrix;Mitochondrion 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency;Familial hyperinsulinemic hypoglycemia 4 PE1 4 +NX_Q16842 350 40173 8.59 1 Cytoplasmic vesicle;Golgi stack membrane;Secreted NA PE1 16 +NX_Q16849 979 105848 6.67 1 Synapse;Perikaryon;Endosome;Cell membrane;Axon;Nucleus;Endoplasmic reticulum;Membrane;Secretory vesicle membrane NA PE1 2 +NX_Q16850 503 56806 8.72 1 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum NA PE1 7 +NX_Q16851 508 56940 8.15 0 Mitochondrion;Cytoplasm;Centrosome;Nucleoplasm NA PE1 2 +NX_Q16853 763 84622 6.05 1 Cytosol;Golgi apparatus;Cell membrane NA PE1 17 +NX_Q16854 277 32056 8.76 0 Mitochondrion Portal hypertension, non-cirrhotic;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4;Mitochondrial DNA depletion syndrome 3 PE1 2 +NX_Q16864 119 13370 5.29 0 NA NA PE1 7 +NX_Q16873 150 16567 10.2 4 Endoplasmic reticulum membrane;Nucleus outer membrane NA PE1 5 +NX_Q16875 520 59609 8.49 0 Nucleoplasm NA PE1 10 +NX_Q16877 469 54040 6.21 0 Nucleolus NA PE1 3 +NX_Q16878 200 22972 6.11 0 Nucleoplasm NA PE1 5 +NX_Q16880 541 61438 9.54 1 Mitochondrion;Membrane NA PE1 4 +NX_Q16881 649 70906 7.16 0 Cytoplasm;Nucleus NA PE1 12 +NX_Q16890 204 22449 5.45 0 Cytosol;Cell junction;Cell membrane NA PE1 6 +NX_Q16891 758 83678 6.08 1 Mitochondrion;Mitochondrion inner membrane NA PE1 2 +NX_Q17R31 274 30333 6.67 0 Nucleoplasm;Focal adhesion;Nucleus;Golgi apparatus NA PE1 1 +NX_Q17R55 369 42387 6.46 1 Membrane NA PE1 19 +NX_Q17R60 797 89387 4.79 0 Secreted Macular dystrophy, vitelliform, 4 PE1 6 +NX_Q17R89 818 89247 6.13 0 Recycling endosome;Synapse;Dendritic spine NA PE1 17 +NX_Q17R98 1081 119165 6.43 0 Nucleoplasm;Nucleus NA PE1 4 +NX_Q17RA5 79 8913 7.76 0 NA NA PE5 21 +NX_Q17RB0 113 13246 5.17 0 NA NA PE1 X +NX_Q17RB8 773 86725 6.93 0 Cytosol;Centrosome;Cell membrane NA PE1 8 +NX_Q17RC7 722 79896 5.92 0 NA NA PE1 14 +NX_Q17RD7 645 72274 5.39 0 Cytosol NA PE1 14 +NX_Q17RF5 130 15556 10.51 0 Secreted Amelogenesis imperfecta, hypomaturation type, 2A4 PE1 4 +NX_Q17RG1 926 104938 5.84 0 NA NA PE1 16 +NX_Q17RH7 258 24139 11.48 0 NA NA PE5 3 +NX_Q17RM4 750 81643 6.58 0 NA NA PE1 2 +NX_Q17RN3 349 37329 6.89 0 Cytosol;Nucleolus;Nucleus NA PE1 19 +NX_Q17RP2 521 58656 6.34 0 Cytoplasmic vesicle;Nucleoplasm;Cytoskeleton;Nucleus NA PE2 5 +NX_Q17RQ9 610 67780 9.13 3 Membrane NA PE1 19 +NX_Q17RR3 467 52254 8.56 0 Secreted NA PE2 10 +NX_Q17RS7 908 102884 8.04 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q17RW2 1714 175496 8.46 0 Extracellular matrix NA PE1 1 +NX_Q17RY0 729 80152 6.7 0 Cytoplasmic vesicle;Golgi apparatus;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Axon;Dendrite;Perinuclear region;Dendritic spine;Postsynaptic density;Growth cone NA PE1 5 +NX_Q17RY6 165 18673 7.43 0 Acrosome;Secreted;Nucleoplasm;Cytoplasm;Cell membrane;Membrane raft NA PE1 8 +NX_Q18PE1 504 53097 6.43 0 Nucleoplasm;Mitochondrion;Synapse;Cell membrane Myasthenic syndrome, congenital, 10 PE1 4 +NX_Q19AV6 140 15386 6.7 0 Cytosol;Nucleus NA PE1 17 +NX_Q19T08 205 21295 7.73 1 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Cytoplasm NA PE1 5 +NX_Q1A5X6 159 18226 9.52 0 NA NA PE2 3 +NX_Q1A5X7 153 18091 5.71 0 Nucleus NA PE5 15 +NX_Q1AE95 376 42940 9.25 1 Membrane NA PE2 3 +NX_Q1ED39 458 51589 9.86 0 Cytosol;Nucleolus NA PE1 16 +NX_Q1EHB4 618 67647 8.44 13 Apical cell membrane;Endoplasmic reticulum NA PE1 11 +NX_Q1HG43 343 37815 6.3 5 Membrane NA PE1 15 +NX_Q1HG44 320 34787 8.51 5 Endoplasmic reticulum membrane Thyroid dyshormonogenesis 5 PE1 15 +NX_Q1KMD3 747 85105 4.85 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q1L5Z9 754 83654 5.65 0 Nucleus NA PE1 2 +NX_Q1L6U9 139 14993 6.96 0 Cytosol;Cytoplasmic vesicle;Secreted NA PE1 9 +NX_Q1MSJ5 1256 145522 6.37 0 Spindle;Microtubule organizing center;Centrosome;Spindle pole Joubert syndrome 21 PE1 8 +NX_Q1MX18 579 63469 5.37 0 Cytoplasm;Cell cortex NA PE1 11 +NX_Q1RMZ1 405 46324 5.75 0 Cytosol NA PE1 7 +NX_Q1RN00 199 22217 9.19 0 NA NA PE1 3 +NX_Q1T7F1 81 8815 6.05 0 Cytoplasm NA PE5 19 +NX_Q1W209 222 24186 9.39 0 Nucleus NA PE2 3 +NX_Q1W4C9 94 11051 8.51 0 Nucleus;Cell membrane;Secreted NA PE2 5 +NX_Q1W6H9 321 33863 9.93 0 Cytoskeleton;Nucleus;Centrosome;Spindle pole NA PE1 2 +NX_Q1X8D7 754 83823 6.68 0 NA NA PE1 16 +NX_Q1XH10 908 98148 8.68 0 NA NA PE1 10 +NX_Q1ZYL8 232 26510 7.18 0 Cytoplasmic vesicle;Nucleoplasm;Secreted NA PE1 19 +NX_Q1ZZU3 235 26739 10.25 0 Cytosol;Nucleoplasm;Nucleus NA PE1 9 +NX_Q24JP5 1023 110110 5.43 1 Endoplasmic reticulum membrane;Mitochondrion;Golgi apparatus membrane NA PE1 11 +NX_Q24JQ0 296 32647 8.97 10 Cytoplasmic vesicle;Golgi apparatus;Membrane NA PE2 18 +NX_Q27J81 1249 135624 5.26 0 Perinuclear region;Nucleus;Endoplasmic reticulum Charcot-Marie-Tooth disease, dominant, intermediate type, E;Focal segmental glomerulosclerosis 5 PE1 14 +NX_Q29718 362 40421 5.66 1 Membrane NA PE1 6 +NX_Q29836 362 40342 5.77 1 Membrane NA PE1 6 +NX_Q29865 366 40933 6.18 1 Membrane NA PE1 6 +NX_Q29940 362 40584 5.89 1 Membrane NA PE1 6 +NX_Q29960 366 40753 6.09 1 Cell membrane;Secreted NA PE1 6 +NX_Q29963 366 40969 5.68 1 Membrane Psoriasis 1 PE1 6 +NX_Q29974 266 30030 7.64 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA PE1 6 +NX_Q29980 383 42646 6.5 1 Cell membrane Rheumatoid arthritis PE1 6 +NX_Q29983 383 42915 6.49 1 Cytoplasm;Cell membrane Psoriasis 1;Psoriatic arthritis PE1 6 +NX_Q29RF7 1337 150830 8.15 0 Nucleoplasm;Nucleus NA PE1 4 +NX_Q2HXU8 276 31616 5.5 1 Cell membrane NA PE1 12 +NX_Q2I0M4 334 34857 9.6 1 Cytoskeleton;Nucleolus;Cell membrane NA PE1 9 +NX_Q2I0M5 234 26171 9.38 0 Secreted Nail disorder, non-syndromic congenital, 4 PE1 20 +NX_Q2KHM9 967 109407 7.6 0 Cytosol;Centriole;Centriolar satellite;Centrosome Orofaciodigital syndrome 15 PE1 17 +NX_Q2KHN1 245 27412 9.07 0 Cytoplasm;Nucleus NA PE1 16 +NX_Q2KHR2 1363 146896 6.29 0 Nucleus;Nucleus membrane NA PE1 15 +NX_Q2KHR3 1735 189972 6.61 0 Nucleoplasm;Cytosol NA PE1 11 +NX_Q2KHT3 1053 117715 5.55 0 Endosome membrane;Cytoplasmic vesicle;Lysosome membrane;Nucleus Diabetes mellitus, insulin-dependent PE1 16 +NX_Q2KHT4 349 39248 8.25 4 Endoplasmic reticulum membrane NA PE1 12 +NX_Q2KJY2 2108 223883 8.76 0 Cytoplasm;Cytoskeleton;Cell membrane NA PE1 1 +NX_Q2L4Q9 553 58410 5.46 0 Secreted NA PE2 16 +NX_Q2LD37 5005 555482 6.12 1 Nucleoplasm;Centrosome;Membrane Alkuraya-Kucinskas syndrome PE1 4 +NX_Q2M1K9 1284 144605 6.43 0 Nucleus Joubert syndrome 19;Nephronophthisis 14 PE1 16 +NX_Q2M1P5 1343 150587 6.37 0 Cilium;Cilium basal body Acrocallosal syndrome;Joubert syndrome 12;Hydrolethalus syndrome 2;Al-Gazali-Bakalinova syndrome;Bardet-Biedl syndrome PE1 15 +NX_Q2M1V0 245 27011 8.91 0 Nucleoplasm;Nucleus NA PE2 22 +NX_Q2M1Z3 1444 156985 5.55 0 Lamellipodium;Focal adhesion Adams-Oliver syndrome 1 PE1 3 +NX_Q2M218 657 76094 9.07 0 Cytosol;Nucleus NA PE1 X +NX_Q2M238 152 17255 9.03 0 NA NA PE5 16 +NX_Q2M243 656 75354 5.53 0 NA NA PE1 1 +NX_Q2M296 383 42173 8.93 0 Cytoplasmic vesicle;Nucleus NA PE1 16 +NX_Q2M2D7 210 24072 9.69 0 NA NA PE2 17 +NX_Q2M2E3 257 29233 6.71 3 Membrane NA PE1 17 +NX_Q2M2E5 130 14817 9.54 0 Secreted NA PE2 5 +NX_Q2M2H8 2515 277990 5.02 1 Cytoplasmic vesicle;Cytosol;Membrane NA PE1 7 +NX_Q2M2I3 478 51780 9.42 0 NA NA PE1 19 +NX_Q2M2I5 525 55087 4.89 0 Cytosol;Cytoskeleton NA PE1 17 +NX_Q2M2I8 961 103885 6.16 0 Cytosol;Clathrin-coated pit;Cell membrane NA PE1 2 +NX_Q2M2W7 97 11219 10.7 0 Cytosol;Cell membrane NA PE1 17 +NX_Q2M2Z5 673 75111 5.44 0 Centrosome;Cilium basal body Retinitis pigmentosa 69 PE1 20 +NX_Q2M329 555 62711 4.92 0 Centrosome NA PE1 4 +NX_Q2M385 716 78587 7.77 1 Membrane NA PE1 11 +NX_Q2M389 1173 136403 7.1 0 Nucleoplasm;Early endosome Mental retardation, autosomal recessive 43 PE1 12 +NX_Q2M3A8 158 16456 6.69 0 NA NA PE5 11 +NX_Q2M3C6 531 58444 4.63 3 Cytosol;Cell membrane;Membrane NA PE1 15 +NX_Q2M3C7 1700 186456 5.04 0 Cytoplasm NA PE1 2 +NX_Q2M3D2 409 45859 7.65 0 NA NA PE1 19 +NX_Q2M3G0 1257 138641 7.29 11 Cell membrane NA PE1 7 +NX_Q2M3G4 852 90786 5.81 0 Cytoplasmic vesicle;Cytoskeleton NA PE1 5 +NX_Q2M3M2 681 74073 6.71 14 Cytosol;Cytoskeleton;Membrane NA PE1 1 +NX_Q2M3R5 365 39836 8.46 10 Endoplasmic reticulum membrane;Cell membrane NA PE1 10 +NX_Q2M3T9 481 54249 8.68 2 Membrane NA PE1 7 +NX_Q2M3V2 549 57443 10.19 0 NA NA PE1 5 +NX_Q2M3W8 571 65842 9.12 0 Nucleus NA PE1 19 +NX_Q2M3X9 581 67199 9.32 0 Nucleus NA PE1 X +NX_Q2M5E4 152 17671 6.6 0 NA NA PE2 1 +NX_Q2MJR0 410 42670 8.67 0 Nucleoplasm;Cytosol;Cell membrane;Membrane NA PE2 19 +NX_Q2MKA7 263 28959 9.46 0 Nucleus;Secreted Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal PE1 1 +NX_Q2MV58 587 63570 5.32 0 Nucleoplasm;Cytoskeleton;Cilium basal body;Secreted Joubert syndrome 13 PE1 12 +NX_Q2NKJ3 1217 134609 8.23 0 Nucleus;Telomere Cerebroretinal microangiopathy with calcifications and cysts 1 PE1 17 +NX_Q2NKQ1 1148 129718 5.43 0 Cytoplasm;Cytoplasmic vesicle membrane;trans-Golgi network NA PE1 22 +NX_Q2NKX8 1250 141103 5.19 0 Kinetochore;Cytosol;Nucleoplasm;Centromere;Centrosome;Chromosome NA PE1 X +NX_Q2NKX9 166 18751 8.44 0 Mitochondrion;Nucleolus;Nucleus;Nucleus membrane NA PE1 2 +NX_Q2NL67 630 71115 8.6 0 Cell membrane NA PE2 15 +NX_Q2NL68 480 51075 6.63 0 Golgi apparatus NA PE1 19 +NX_Q2NL82 804 91810 6.98 0 Nucleoplasm;Nucleolus NA PE1 17 +NX_Q2NL98 169 18348 5.44 0 Cytoplasm NA PE1 19 +NX_Q2PPJ7 1873 210770 5.74 0 Cytosol;Cytoplasm;Cell membrane NA PE1 20 +NX_Q2PZI1 675 77319 9.13 11 Cytoplasmic vesicle;Membrane NA PE1 7 +NX_Q2Q1W2 868 93385 7.57 0 Cytoskeleton;P-body;Focal adhesion;Cell membrane NA PE1 3 +NX_Q2QD12 228 25023 5.21 0 NA NA PE2 10 +NX_Q2QGD7 858 89988 8.48 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA PE1 3 +NX_Q2QL34 196 22116 9.92 4 Cytoplasmic vesicle;Peroxisome membrane NA PE1 16 +NX_Q2T9J0 566 59309 5.82 0 Cytosol;Nucleoplasm;Centrosome;Peroxisome NA PE1 10 +NX_Q2T9K0 475 52201 8.12 7 Cytosol;Membrane NA PE1 3 +NX_Q2T9L4 293 31928 4.91 0 Cytosol;Postsynaptic density;Nucleoplasm NA PE2 15 +NX_Q2TAA2 248 27599 5.13 0 Nucleoplasm NA PE1 2 +NX_Q2TAA5 492 55651 8.78 2 Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1P PE1 13 +NX_Q2TAA8 658 76773 4.99 0 Cytosol;Perinuclear region;Nucleus NA PE1 16 +NX_Q2TAC2 916 103167 6.13 0 Cytosol;Cytoskeleton;Microtubule organizing center NA PE1 17 +NX_Q2TAC6 998 111332 8.87 0 Cytoskeleton;Cilium;Cell membrane;Centrosome NA PE1 17 +NX_Q2TAK8 710 78636 8.83 0 Cytosol;Nucleus NA PE1 19 +NX_Q2TAL5 461 50196 8.8 0 NA NA PE1 17 +NX_Q2TAL6 325 35282 5.29 0 Synapse;Basement membrane NA PE1 7 +NX_Q2TAL8 776 86436 5.59 0 Nucleoplasm Ververi-Brady syndrome PE1 3 +NX_Q2TAM9 212 23390 11.18 0 Cytoplasmic vesicle;Nucleus NA PE1 9 +NX_Q2TAP0 167 18335 5.77 0 Golgi apparatus membrane NA PE1 10 +NX_Q2TAY7 513 57544 6.74 0 Cytoplasmic vesicle;Nucleus speckle;Nucleus;Cytoplasm NA PE1 9 +NX_Q2TAZ0 1938 212860 5.57 0 Cytosol;Cytoplasmic vesicle;Lipid droplet;Nucleus;Preautophagosomal structure membrane NA PE1 11 +NX_Q2TB10 664 75236 9.54 0 Cytosol;Nucleolus;Nucleus NA PE1 7 +NX_Q2TB18 679 77093 8.39 0 Endoplasmic reticulum NA PE1 3 +NX_Q2TB90 917 102545 6.77 0 Mitochondrion NA PE1 10 +NX_Q2TBA0 621 69257 5.15 0 I band;Cytoplasm;A band Nemaline myopathy 8 PE1 3 +NX_Q2TBC4 344 37551 5.47 0 Spindle;Microtubule organizing center NA PE2 6 +NX_Q2TBE0 894 103787 8.78 0 Cytosol;Nucleus speckle NA PE1 11 +NX_Q2TBF2 565 63817 8.99 1 Nucleoplasm;Membrane NA PE1 12 +NX_Q2TV78 715 79694 8.16 0 Secreted NA PE1 1 +NX_Q2UY09 1125 116657 6.1 0 Cytosol;Nucleoplasm;Basement membrane NA PE1 7 +NX_Q2V2M9 1422 158613 5.7 0 Cytoskeleton;Z line NA PE1 18 +NX_Q2VIQ3 1234 140035 5.88 0 Cytoskeleton;Nucleus matrix NA PE1 5 +NX_Q2VIR3 472 51229 8.67 0 NA NA PE1 12 +NX_Q2VPA4 569 62714 6.95 0 Cytoplasm;Secreted;Membrane NA PE1 1 +NX_Q2VPB7 878 93949 5.61 0 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA PE1 11 +NX_Q2VPJ9 315 34740 9.42 0 Cytosol;Nucleus NA PE2 22 +NX_Q2VPK5 515 56107 5.94 0 Cytoplasm NA PE1 16 +NX_Q2VWA4 1001 104235 6.02 0 Cytoplasm;Nucleus NA PE1 18 +NX_Q2VWP7 1150 127076 7.37 1 Cytoplasmic vesicle;Cytosol;Cell membrane;Membrane NA PE1 15 +NX_Q2VY69 593 69019 8.77 0 Nucleus NA PE1 19 +NX_Q2VYF4 491 55921 9.31 1 Cytosol;Nucleus;Mitochondrion inner membrane NA PE1 8 +NX_Q2WEN9 425 45873 5.94 0 Secreted Deafness, autosomal dominant, 4B PE1 19 +NX_Q2WGJ6 581 65541 8.19 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 8 +NX_Q2WGJ8 235 27046 9.88 2 Membrane NA PE1 8 +NX_Q2WGJ9 1857 209308 5.98 1 Membrane NA PE1 8 +NX_Q2WGN9 574 62367 7.35 0 NA NA PE2 22 +NX_Q2Y0W8 1093 122938 6.22 11 Cytoskeleton;Membrane NA PE1 12 +NX_Q2YD98 709 80591 5.93 0 Nucleoplasm;Chromosome UV-sensitive syndrome 3 PE1 4 +NX_Q30134 266 30004 6.66 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA PE1 6 +NX_Q30154 266 30056 6.45 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA PE1 6 +NX_Q30167 266 30002 7.66 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA PE1 6 +NX_Q30201 348 40108 6.12 1 Mitochondrion;Nucleus membrane;Cell membrane Microvascular complications of diabetes 7;Hemochromatosis 1;Variegate porphyria PE1 6 +NX_Q309B1 348 40306 5.86 0 Cytoplasm NA PE1 17 +NX_Q30KP8 78 8755 9.18 0 Secreted NA PE3 8 +NX_Q30KP9 77 8754 9.54 0 Secreted NA PE2 8 +NX_Q30KQ1 61 7213 9.06 0 Secreted NA PE2 6 +NX_Q30KQ4 102 11544 8.71 0 Secreted NA PE3 20 +NX_Q30KQ5 88 10071 8.77 0 Secreted NA PE3 20 +NX_Q30KQ6 69 8318 7.5 0 Secreted NA PE1 6 +NX_Q30KQ7 82 9640 9.1 0 Secreted NA PE2 6 +NX_Q30KQ8 113 12991 8.82 0 Secreted NA PE2 6 +NX_Q30KQ9 67 8001 9.06 0 Secreted NA PE2 6 +NX_Q30KR1 87 9886 8.91 0 Secreted NA PE5 8 +NX_Q31610 362 40400 5.67 1 Membrane NA PE1 6 +NX_Q31612 363 40435 5.84 1 Membrane NA PE1 6 +NX_Q32M45 955 111462 8.45 8 Cell membrane NA PE2 12 +NX_Q32M78 642 73956 8.6 0 Nucleus NA PE1 19 +NX_Q32M84 506 58481 9.29 0 Cytosol;Nucleolus NA PE1 10 +NX_Q32M88 737 80655 5.11 0 Cytosol NA PE1 11 +NX_Q32M92 178 20262 9.34 0 NA NA PE2 15 +NX_Q32MH5 1076 121670 8.12 0 Nucleoplasm NA PE1 15 +NX_Q32MK0 819 88393 5.76 0 Cytoplasm NA PE1 16 +NX_Q32MQ0 723 77361 8.45 0 Nucleus Seborrhea-like dermatitis with psoriasiform elements PE1 17 +NX_Q32MZ4 808 89253 4.59 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q32NB8 556 62730 9.08 0 Mitochondrion;Cytoplasmic vesicle;Cytoskeleton;Cell junction NA PE1 17 +NX_Q32NC0 220 24827 10.27 0 Nucleolus;Cell membrane NA PE1 18 +NX_Q32P28 736 83394 5.05 0 Cytoplasmic vesicle;Nucleolus;Endoplasmic reticulum;Extracellular matrix Osteogenesis imperfecta 8 PE1 1 +NX_Q32P41 509 58246 8.78 0 Mitochondrion matrix;Cytoplasm;Nucleolus;Nucleus Combined oxidative phosphorylation deficiency 26 PE1 14 +NX_Q32P44 896 95197 6.69 0 Cytoskeleton NA PE1 11 +NX_Q32P51 320 34225 9.08 0 Cytoplasm;Nucleus NA PE1 13 +NX_Q32Q52 190 21196 8.68 0 NA NA PE2 12 +NX_Q32ZL2 321 35427 6.58 6 Cytosol;Cell membrane NA PE2 1 +NX_Q330K2 333 38176 9.44 0 Nucleus;Mitochondrion inner membrane;Cytoplasm Mitochondrial complex I deficiency PE1 8 +NX_Q33E94 735 83368 6.38 0 Nucleus NA PE1 12 +NX_Q38SD2 2015 225393 6.25 0 Mitochondrion;Cytoplasm;Cytosol NA PE1 15 +NX_Q3B726 338 37432 6.53 0 Nucleolus;Nucleus NA PE1 7 +NX_Q3B7I2 92 10960 4.92 0 NA NA PE3 7 +NX_Q3B7J2 385 42255 6.02 0 Nucleoplasm;Cytosol;Extracellular matrix NA PE1 16 +NX_Q3B7S5 101 11722 10.62 1 Membrane NA PE4 18 +NX_Q3B7T1 1238 138528 5.93 0 Nucleoplasm;Cytosol;Nucleus;Centrosome NA PE1 10 +NX_Q3B7T3 259 28626 7.8 1 Nucleoplasm;Centrosome;Membrane Spinocerebellar ataxia 31 PE1 16 +NX_Q3B820 660 76752 8.21 0 Cilium;Cilium basal body Retinitis pigmentosa 28 PE1 2 +NX_Q3B8N2 356 39660 9.6 0 NA NA PE1 17 +NX_Q3B8N5 592 65586 9.28 0 Nucleus NA PE2 14 +NX_Q3BBV0 1214 139258 4.74 0 Cytoplasm NA PE2 1 +NX_Q3BBV2 869 99215 4.6 0 Cytoplasm NA PE5 1 +NX_Q3C1V0 323 34465 6.27 4 Membrane NA PE2 11 +NX_Q3C1V1 193 20547 9.42 0 Cytoplasmic vesicle NA PE1 11 +NX_Q3C1V8 233 25933 6.96 0 Nucleus NA PE2 11 +NX_Q3C1V9 767 84939 7.76 0 NA NA PE5 11 +NX_Q3I5F7 207 22991 8.81 0 Cytoplasm NA PE1 14 +NX_Q3KNS1 767 86872 5.84 8 Membrane NA PE1 10 +NX_Q3KNS6 432 50142 8.21 0 Nucleus NA PE1 19 +NX_Q3KNT7 163 17679 5.47 0 NA NA PE5 7 +NX_Q3KNT9 176 19597 8.98 1 Membrane NA PE2 17 +NX_Q3KNV8 242 28115 8.54 0 Nucleoplasm;Nucleus NA PE1 4 +NX_Q3KNW1 292 32474 9.45 0 Nucleoplasm;Nucleus NA PE2 16 +NX_Q3KNW5 377 41259 8.15 9 Membrane NA PE1 4 +NX_Q3KP22 176 20078 10.11 1 Nucleus inner membrane;Telomere NA PE1 11 +NX_Q3KP31 576 66872 9.39 0 Nucleus NA PE1 19 +NX_Q3KP44 614 68414 6.72 0 NA NA PE1 5 +NX_Q3KP66 663 72914 9.42 0 Cytoplasm;Nucleus NA PE1 1 +NX_Q3KPI0 293 32373 5.83 1 Membrane NA PE2 19 +NX_Q3KQU3 841 92820 10.12 0 Cytosol;Spindle;Cytoskeleton NA PE1 1 +NX_Q3KQV3 632 71577 8.36 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q3KQV9 507 57030 5.94 0 Cytosol;Cytoskeleton NA PE1 9 +NX_Q3KQZ1 300 32438 9.21 6 Mitochondrion;Cytoplasmic vesicle;Mitochondrion inner membrane NA PE1 17 +NX_Q3KR16 790 88960 6.63 0 Cleavage furrow;Microvillus;Cell junction;Centrosome;Spindle;Spindle pole NA PE1 12 +NX_Q3KR37 738 85400 5.84 1 Endoplasmic reticulum membrane;Cytoskeleton;Nucleolus;Nucleus;Cell membrane NA PE1 11 +NX_Q3KRA6 126 14609 6.42 0 Endoplasmic reticulum NA PE1 2 +NX_Q3KRA9 238 26483 8.9 0 Nucleoplasm;Cytoplasm;Focal adhesion;Nucleus NA PE1 19 +NX_Q3KRB8 267 30251 9.27 0 Cytoplasmic vesicle NA PE2 15 +NX_Q3L8U1 2897 326022 6.56 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 16 +NX_Q3LFD5 358 41394 8.36 0 NA NA PE2 22 +NX_Q3LHN0 102 11738 9.01 0 Cytosol;Cell membrane;Nucleus membrane NA PE3 21 +NX_Q3LHN1 58 6456 7.51 0 NA NA PE3 21 +NX_Q3LHN2 52 5737 8.48 0 NA NA PE3 21 +NX_Q3LI54 63 6918 8.91 0 NA NA PE3 21 +NX_Q3LI58 79 7937 8.15 0 NA NA PE2 21 +NX_Q3LI59 83 8564 8.4 0 NA NA PE3 21 +NX_Q3LI60 44 4909 7.61 0 NA NA PE3 21 +NX_Q3LI61 65 6961 8.63 0 NA NA PE3 21 +NX_Q3LI62 44 4623 9.06 0 NA NA PE3 21 +NX_Q3LI63 56 6202 8.24 0 NA NA PE3 21 +NX_Q3LI64 71 7279 8.36 0 NA NA PE1 21 +NX_Q3LI66 62 6654 6.65 0 NA NA PE1 21 +NX_Q3LI67 103 10409 7.35 0 NA NA PE3 21 +NX_Q3LI68 45 5218 8.39 0 NA NA PE3 21 +NX_Q3LI70 58 6267 8.97 0 NA NA PE3 21 +NX_Q3LI72 72 7624 8.32 0 NA NA PE1 21 +NX_Q3LI73 84 9106 8.93 0 NA NA PE3 21 +NX_Q3LI76 137 14979 8.15 0 NA NA PE1 21 +NX_Q3LI77 160 17755 9.08 0 NA NA PE1 21 +NX_Q3LI81 207 22345 5.45 0 NA NA PE2 21 +NX_Q3LI83 254 27719 8.71 0 NA NA PE1 21 +NX_Q3LIE5 342 39529 5.31 0 NA NA PE1 17 +NX_Q3LXA3 575 58947 7.12 0 Cytosol;Nucleus NA PE1 11 +NX_Q3MHD2 195 21701 7.62 0 Cytosol;Cytoplasm NA PE1 17 +NX_Q3MII6 688 76327 5.75 0 Cytoplasm;Autophagosome NA PE1 X +NX_Q3MIN7 710 78079 7.6 0 Cytosol;Nucleus NA PE1 19 +NX_Q3MIP1 535 58446 9.58 1 Centrosome;Membrane NA PE1 16 +NX_Q3MIR4 351 38941 8.06 2 Cell membrane NA PE1 14 +NX_Q3MIS6 628 72138 9.37 0 Nucleus NA PE1 19 +NX_Q3MIT2 529 60244 6.1 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 2 +NX_Q3MIV0 48 5275 6.48 0 NA NA PE3 21 +NX_Q3MIW9 517 56347 9.01 1 Cytoplasm;Cell membrane NA PE1 6 +NX_Q3MIX3 580 65828 9.05 1 Cytosol;Cell membrane;Membrane NA PE1 8 +NX_Q3MJ13 1102 123425 6.22 0 Cytoplasmic vesicle Amelogenesis imperfecta, hypomaturation type, 2A3 PE1 15 +NX_Q3MJ16 868 99190 5.46 0 Cytosol;Lysosome membrane NA PE1 15 +NX_Q3MJ40 725 82951 4.93 0 NA NA PE2 17 +NX_Q3MJ62 389 44955 5.91 0 Nucleus NA PE1 6 +NX_Q3MUY2 71 8058 6.69 2 Endoplasmic reticulum membrane Hyperphosphatasia with mental retardation syndrome 6 PE1 4 +NX_Q3SX64 289 30781 10 0 NA NA PE1 19 +NX_Q3SXM0 396 44264 8.65 0 NA NA PE1 4 +NX_Q3SXM5 330 37002 8.93 0 Mitochondrion NA PE1 16 +NX_Q3SXP7 199 22573 8.95 1 Cytosol;Cytoplasmic vesicle;Membrane NA PE2 22 +NX_Q3SXR2 165 16908 8.66 0 NA NA PE2 3 +NX_Q3SXY7 679 74754 5.46 1 Endoplasmic reticulum membrane;Nucleoplasm;Perikaryon;Cytosol;Dendrite;Mitochondrion Night blindness, congenital stationary, 1F PE1 4 +NX_Q3SXY8 428 48643 6.2 0 Cytosol;Cilium membrane;Cytoskeleton;Cilium Joubert syndrome 8 PE1 3 +NX_Q3SXZ3 478 55359 9.53 0 Nucleus NA PE2 4 +NX_Q3SXZ7 439 51472 8.96 0 Nucleoplasm;Cytoskeleton;Cilium basal body NA PE2 20 +NX_Q3SY00 556 62381 10.08 0 NA NA PE1 11 +NX_Q3SY05 128 14562 9.74 0 NA NA PE5 1 +NX_Q3SY17 297 33721 9.69 6 Mitochondrion inner membrane NA PE2 18 +NX_Q3SY46 172 19236 8.78 0 NA NA PE1 21 +NX_Q3SY52 487 54786 9.1 0 Cytoskeleton;Nucleus NA PE1 19 +NX_Q3SY56 376 39840 6.81 0 Nucleoplasm;Spindle;Nucleus;Centrosome NA PE1 17 +NX_Q3SY69 923 101746 6.13 0 Mitochondrion NA PE1 12 +NX_Q3SY77 523 59547 8.51 1 Cytosol;Nucleus;Membrane NA PE1 5 +NX_Q3SY84 523 57292 6.27 0 Cytoskeleton Hypotrichosis 13 PE1 12 +NX_Q3SY89 546 59760 9.83 0 Nucleus NA PE2 18 +NX_Q3SYA9 428 45448 9.17 0 NA NA PE5 22 +NX_Q3SYB3 417 45787 9.76 0 Nucleus NA PE1 9 +NX_Q3SYC2 334 38196 9.47 3 Endoplasmic reticulum membrane;Perinuclear region NA PE1 11 +NX_Q3SYF9 63 6644 8.49 0 NA NA PE1 21 +NX_Q3SYG4 887 99280 5.35 0 Cilium membrane;Centriolar satellite;Centrosome;Cytoplasm Bardet-Biedl syndrome 9 PE1 7 +NX_Q3T8J9 2241 248620 4.94 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q3T906 1256 143622 6.74 2 Golgi apparatus membrane;Golgi apparatus Mucolipidosis type III complementation group A;Mucolipidosis type II PE1 12 +NX_Q3V5L5 792 89535 8.68 1 Nucleoplasm;Cytoskeleton;Golgi apparatus membrane;Spindle NA PE1 17 +NX_Q3V6T2 1871 216042 5.9 0 Cytoplasmic vesicle;Cytosol;Cell membrane;Centriole;Membrane;Lamellipodium;Cilium basal body PEHO-like syndrome PE1 2 +NX_Q3Y452 100 10472 6.81 0 Cytoplasm NA PE1 6 +NX_Q3YBM2 270 29056 8.81 4 Nucleoplasm;Golgi apparatus;Cell membrane;Nucleus membrane NA PE1 7 +NX_Q3YBR2 411 44946 8.73 0 Nucleus NA PE1 11 +NX_Q3YEC7 729 79549 5.11 0 Cytosol;Cytoplasm;Nucleus;Centrosome NA PE1 9 +NX_Q3ZAQ7 101 11354 6.56 2 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane Myopathy, X-linked, with excessive autophagy PE1 X +NX_Q3ZCM7 444 49776 4.79 0 Cytoskeleton;Spindle Oocyte maturation defect 2 PE1 10 +NX_Q3ZCN5 2332 262091 5.01 0 Cytosol;Secreted Deafness, autosomal recessive, 84B PE1 12 +NX_Q3ZCQ2 193 21682 4.88 0 Cytosol;Nucleoplasm NA PE1 5 +NX_Q3ZCQ3 159 16967 8.88 1 Cytoskeleton;Membrane NA PE1 15 +NX_Q3ZCQ8 353 39646 8.55 1 Nucleoplasm;Nucleus speckle;Mitochondrion;Mitochondrion inner membrane 3-methylglutaconic aciduria 9 PE1 19 +NX_Q3ZCT1 412 47222 9.28 0 Nucleoplasm;Cytosol;Nucleus NA PE1 19 +NX_Q3ZCT8 623 71096 5.65 0 NA NA PE1 3 +NX_Q3ZCU0 254 29382 9.76 0 Nucleoplasm;Centrosome;Endoplasmic reticulum NA PE2 11 +NX_Q3ZCV2 418 47583 9.85 0 NA NA PE1 1 +NX_Q3ZCW2 172 18986 5.12 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 2 +NX_Q3ZCX4 644 74369 8.58 0 Nucleus NA PE1 19 +NX_Q3ZLR7 823 89431 9 0 NA NA PE2 X +NX_Q3ZM63 59 6991 10.43 0 NA NA PE1 X +NX_Q400G9 498 54924 5.64 0 NA NA PE1 7 +NX_Q401N2 412 45816 8.45 4 Cell membrane NA PE1 17 +NX_Q460N3 678 74576 9.02 0 Mitochondrion;Nucleus NA PE1 3 +NX_Q460N5 1801 202800 6.81 0 Cytosol;Cytoplasm;Nucleus NA PE1 3 +NX_Q494R0 122 13218 9.41 0 NA NA PE5 16 +NX_Q494R4 210 23858 9.34 0 Cytosol NA PE1 11 +NX_Q494U1 611 66409 9.06 0 Mitochondrion;Nucleus speckle;Cytoskeleton;Mitochondrion membrane;Cell membrane NA PE1 1 +NX_Q494V2 611 71117 6.65 0 Cilium axoneme NA PE1 3 +NX_Q494W8 412 46218 6.11 5 Membrane NA PE2 15 +NX_Q494X3 552 65425 9.32 0 Cytoskeleton;Nucleolus;Nucleus NA PE1 19 +NX_Q495A1 244 26319 5.5 1 Cell membrane NA PE1 3 +NX_Q495B1 522 57550 6.22 0 Nucleoplasm NA PE1 15 +NX_Q495C1 297 33365 9.04 0 Nucleus;Chromosome NA PE2 4 +NX_Q495D7 138 15996 9.11 0 NA NA PE2 12 +NX_Q495M3 483 53216 8.4 11 Cytoplasm;Cell membrane Hyperglycinuria;Iminoglycinuria PE1 5 +NX_Q495M9 461 51489 6.48 0 Cytosol;Cytoskeleton;Cell membrane Usher syndrome 1G PE1 17 +NX_Q495N2 470 51735 5.91 11 Membrane NA PE2 5 +NX_Q495T6 779 89367 5.64 1 Membrane;Secreted NA PE1 1 +NX_Q495W5 492 55816 5.59 1 Golgi stack membrane;Golgi apparatus;Nucleus membrane NA PE1 10 +NX_Q495X7 471 55114 8.68 0 NA NA PE2 4 +NX_Q495Y7 208 25253 8.71 0 NA NA PE5 7 +NX_Q495Y8 402 48300 9.78 0 NA NA PE1 7 +NX_Q495Z4 193 20099 11.93 0 NA NA PE5 17 +NX_Q496A3 300 33705 7.08 0 Nucleoplasm NA PE1 6 +NX_Q496F6 205 22918 8.22 1 Cell membrane NA PE1 17 +NX_Q496H8 165 17786 8.35 0 Cell membrane NA PE1 16 +NX_Q496J9 727 82342 4.92 12 Nucleoplasm;Cytoplasmic vesicle;Synaptic vesicle membrane NA PE1 5 +NX_Q496M5 336 36329 5.99 0 Cytoplasm;Nucleolus NA PE1 19 +NX_Q496Y0 759 84490 7 0 Nucleus;Cell membrane NA PE1 X +NX_Q499Y3 187 20452 7.62 0 NA NA PE2 10 +NX_Q499Z3 407 45603 5.61 0 Cytosol NA PE1 1 +NX_Q499Z4 452 50224 10.01 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q49A17 601 69788 7.11 1 Golgi apparatus membrane NA PE2 4 +NX_Q49A26 553 60547 9.26 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 16 +NX_Q49A33 203 23384 9.13 0 Nucleus NA PE5 4 +NX_Q49A88 953 106302 8.65 0 Centriolar satellite;Centrosome NA PE1 3 +NX_Q49A92 538 59434 5.76 0 Nucleolus;Nucleus;Golgi apparatus NA PE1 8 +NX_Q49AA0 526 61181 8.78 0 Nucleus NA PE1 1 +NX_Q49AG3 693 78911 8.57 0 Nucleolus;Nucleus;Golgi apparatus NA PE1 11 +NX_Q49AH0 187 20964 7.5 0 Secreted NA PE1 10 +NX_Q49AJ0 1406 155770 5.53 0 Nucleoplasm;Nucleus membrane NA PE1 8 +NX_Q49AM1 385 44414 9.15 0 Mitochondrion;Mitochondrion nucleoid NA PE1 12 +NX_Q49AM3 519 57105 8.52 0 Nucleoplasm;Cytosol NA PE1 2 +NX_Q49AN0 593 66947 8.66 0 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA PE1 11 +NX_Q49AR2 442 49967 4.65 0 Nucleus membrane NA PE1 5 +NX_Q49AS3 106 12596 10.02 0 NA NA PE5 9 +NX_Q49B96 90 10394 8.95 0 Cytosol;Mitochondrion;Mitochondrion intermembrane space NA PE1 7 +NX_Q49MG5 647 74234 7.59 0 Cytoplasm;Cytoskeleton;Spindle NA PE1 4 +NX_Q49MI3 558 62622 8.57 0 Nucleolus;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Cytosol;trans-Golgi network Retinitis pigmentosa 26 PE1 2 +NX_Q49SQ1 333 38232 9.57 7 Cell membrane NA PE2 14 +NX_Q4AC94 2353 260389 6.7 0 Centriole;Cilium basal body;Nucleus;Microtubule organizing center Orofaciodigital syndrome 14 PE1 11 +NX_Q4AC99 568 65249 6.05 0 NA NA PE1 11 +NX_Q4ADV7 1423 159301 5.95 1 Cytosol;Membrane NA PE1 9 +NX_Q4AE62 458 52597 6.83 0 Cytosol NA PE1 2 +NX_Q4FZB7 885 99187 8.98 0 Nucleus;Chromosome Mental retardation, autosomal dominant 51 PE1 11 +NX_Q4G0A6 757 84372 6.47 0 Cytosol;Cytoplasmic vesicle NA PE1 7 +NX_Q4G0F5 336 39155 6.85 0 Cytoplasm;Membrane;Late endosome;Early endosome NA PE1 11 +NX_Q4G0G2 97 11005 6.8 0 NA NA PE5 3 +NX_Q4G0G5 96 10563 4.57 0 Secreted NA PE3 19 +NX_Q4G0I0 132 15004 6.51 1 Membrane NA PE1 16 +NX_Q4G0J3 582 66899 9.57 0 Cytosol;Nucleoplasm Alazami syndrome PE1 4 +NX_Q4G0M1 354 37279 9.88 0 Microtubule organizing center;Endoplasmic reticulum;Secreted NA PE2 2 +NX_Q4G0N0 100 11568 5.61 1 Golgi stack membrane NA PE1 9 +NX_Q4G0N4 442 49433 8.46 0 Mitochondrion 2,4-dienoyl-CoA reductase deficiency PE1 5 +NX_Q4G0N7 80 8717 9.02 0 Nucleolus;Nucleus;Golgi apparatus NA PE1 6 +NX_Q4G0N8 1177 135206 6.72 16 Flagellum membrane NA PE1 3 +NX_Q4G0P3 5121 575892 5.73 0 Cytosol;Cilium;Cell membrane Ciliary dyskinesia, primary, 5 PE1 16 +NX_Q4G0S4 372 42632 9.31 0 Cytoplasmic vesicle;Membrane NA PE1 2 +NX_Q4G0S7 254 29979 9.11 0 Nucleoplasm;Cytosol NA PE1 5 +NX_Q4G0T1 1027 108611 5.76 1 Membrane NA PE1 10 +NX_Q4G0U5 840 96891 8.79 0 Cytoplasm;Cilium axoneme NA PE1 2 +NX_Q4G0W2 176 18324 8.61 0 Cytosol;Nucleus speckle NA PE1 2 +NX_Q4G0X4 260 29643 6.09 0 Cytosol NA PE1 11 +NX_Q4G0X9 1142 130113 5.21 0 Cytoplasm;Cytoskeleton;Cilium Ciliary dyskinesia, primary, 15 PE1 17 +NX_Q4G0Z9 681 76219 6.79 0 Cytoskeleton NA PE1 8 +NX_Q4G112 596 65278 6.78 0 Nucleus NA PE1 17 +NX_Q4G148 440 50567 8.92 1 Membrane NA PE1 12 +NX_Q4G163 708 78402 8.4 0 NA NA PE1 8 +NX_Q4G176 576 64130 8.64 0 Mitochondrion Combined malonic and methylmalonic aciduria PE1 16 +NX_Q4G1C9 344 40179 4.88 1 Membrane NA PE1 12 +NX_Q4J6C6 727 83927 5.96 0 Cytosol;Cytoplasm Hypotonia-cystinuria syndrome;Myasthenic syndrome, congenital, 22 PE1 2 +NX_Q4JDL3 420 48423 5.54 0 Cytoplasm;Nucleus;Centrosome;Microtubule organizing center NA PE1 10 +NX_Q4KMG0 1287 139147 6.04 1 Cell membrane Holoprosencephaly 11 PE1 11 +NX_Q4KMG9 183 20002 5.39 1 Focal adhesion;Membrane NA PE2 12 +NX_Q4KMP7 808 87199 9.27 0 Cytoplasm NA PE1 16 +NX_Q4KMQ1 711 75556 6.82 0 Stereocilium;Cell membrane Deafness, autosomal recessive, 79 PE1 9 +NX_Q4KMQ2 910 106165 7.92 8 Cytosol;Cell membrane Scott syndrome PE1 12 +NX_Q4KMX7 169 18795 5.78 0 NA NA PE2 17 +NX_Q4KMZ1 466 53032 8.22 0 Cytoplasmic vesicle NA PE1 1 +NX_Q4KMZ8 207 23552 5.21 3 Cell membrane NA PE2 1 +NX_Q4KWH8 1693 189223 7.87 0 Cytoplasmic vesicle;Cytoplasm;Membrane NA PE1 3 +NX_Q4L180 1135 130382 6.17 0 Cytoplasm;Nucleus;Cell membrane;Membrane NA PE1 3 +NX_Q4L235 1098 122597 6.9 0 NA NA PE1 4 +NX_Q4LDE5 3571 390170 5.32 0 Cytoplasm;Membrane;Secreted NA PE1 9 +NX_Q4LDG9 190 21533 5.87 0 Nucleus;Cilium axoneme;Microtubule organizing center Ciliary dyskinesia, primary, 16 PE1 14 +NX_Q4LDR2 81 8933 4.56 1 Membrane NA PE2 5 +NX_Q4LE39 1312 147809 5.04 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoplasm NA PE1 1 +NX_Q4LEZ3 155 17575 5.81 0 Lipid droplet NA PE1 8 +NX_Q4QY38 66 7552 6.52 0 Secreted NA PE2 8 +NX_Q4U2R6 128 15095 11.27 0 Mitochondrion NA PE1 12 +NX_Q4U2R8 563 61816 9.05 12 Cell membrane NA PE1 11 +NX_Q4UJ75 823 94149 8.11 0 NA NA PE4 9 +NX_Q4V321 117 12957 4.17 0 NA NA PE2 X +NX_Q4V326 110 12217 4.3 0 NA NA PE2 X +NX_Q4V328 841 96006 5.08 0 Cytoplasmic vesicle;Synapse;Cytosol;Early endosome membrane;Axon;Dendrite;Recycling endosome membrane NA PE1 X +NX_Q4V339 395 43964 4.76 0 NA NA PE3 9 +NX_Q4V348 819 94331 8.9 0 Nucleus NA PE2 9 +NX_Q4V9L6 283 29203 4.5 1 Endoplasmic reticulum membrane;Cytoplasm;Cell membrane NA PE1 12 +NX_Q4VC05 210 22810 5.01 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 12 +NX_Q4VC12 460 51289 6.49 0 Cytoplasmic vesicle;Cytosol NA PE1 10 +NX_Q4VC31 144 16620 7.67 0 Mitochondrion;Nucleolus NA PE1 3 +NX_Q4VC39 106 11405 8.55 2 Membrane NA PE5 15 +NX_Q4VC44 716 80108 8.68 0 Nucleoplasm;Cytosol;Nucleus NA PE1 16 +NX_Q4VCS5 1084 118085 7.27 0 Nucleus;Cell junction;Tight junction NA PE1 X +NX_Q4VNC0 1218 137327 8.19 10 Membrane NA PE2 3 +NX_Q4VNC1 1196 133987 6.27 11 Nucleoplasm;Membrane NA PE1 3 +NX_Q4VX62 202 22766 8.57 0 NA NA PE4 6 +NX_Q4VX76 610 68560 9.41 0 Cytoplasmic vesicle;Nucleolus;Endomembrane system NA PE1 6 +NX_Q4VXA5 237 27160 8.58 2 Mitochondrion;Cytosol;Membrane NA PE2 6 +NX_Q4VXF1 159 18188 9.41 1 Membrane NA PE5 9 +NX_Q4VXU2 614 68392 9.06 0 Cytosol;Nucleus NA PE1 20 +NX_Q4W4Y0 310 36306 6.18 0 Cytosol NA PE2 14 +NX_Q4W5G0 525 59623 9.12 0 Nucleus NA PE1 4 +NX_Q4W5N1 156 17479 9.43 0 NA NA PE2 4 +NX_Q4W5P6 130 14221 10.29 0 Secreted NA PE2 4 +NX_Q4ZG55 1949 216467 6.49 1 Mitochondrion;Cytosol;Membrane NA PE1 2 +NX_Q4ZHG4 1894 205558 9.35 0 Nucleus speckle;Secreted NA PE1 6 +NX_Q4ZIN3 620 67889 5.14 4 Endoplasmic reticulum membrane;Nucleus speckle;Endoplasmic reticulum NA PE1 19 +NX_Q4ZJI4 515 56054 8.27 13 Flagellum membrane NA PE1 4 +NX_Q502W6 1294 145748 7.01 0 Cytoplasm;Nucleus Spinocerebellar ataxia, autosomal recessive, 22 PE1 2 +NX_Q502W7 563 65315 8.81 0 Nucleolus;Nucleus;Centrosome NA PE1 12 +NX_Q502X0 79 8939 5.4 0 Nucleoplasm;Nucleus;Acrosome NA PE1 2 +NX_Q504Q3 1202 135368 5.64 0 Cytoplasm;P-body;Nucleus NA PE1 12 +NX_Q504T8 468 49213 9.67 0 Nucleoplasm;Cytosol;Nucleolus;Nucleus NA PE1 19 +NX_Q504U0 113 11899 4.24 0 Nucleoplasm;Cytoplasm NA PE1 4 +NX_Q504Y0 691 76666 5.85 8 Membrane NA PE1 10 +NX_Q504Y2 493 54132 8.76 0 Golgi apparatus;Secreted NA PE1 2 +NX_Q504Y3 356 41376 5.56 0 Nucleus speckle NA PE1 3 +NX_Q50LG9 513 55257 9.24 1 Cytoplasmic vesicle;Membrane NA PE1 8 +NX_Q52LA3 116 13001 4.89 0 Nucleus speckle NA PE1 14 +NX_Q52LC2 224 25310 9.6 1 Cytosol;Nucleolus;Membrane NA PE2 5 +NX_Q52LD8 501 55922 5.56 0 Cell membrane NA PE1 2 +NX_Q52LG2 175 18727 8.72 0 NA NA PE1 21 +NX_Q52LJ0 330 37191 5.96 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA PE1 15 +NX_Q52LR7 807 91095 8.95 0 Nucleus speckle;Nucleus NA PE1 2 +NX_Q52LW3 1261 142064 6.32 0 Cytosol;Nucleus;Centrosome;Cell membrane NA PE1 1 +NX_Q52M58 125 13861 9.23 0 NA NA PE2 14 +NX_Q52M75 96 10857 9.96 0 NA NA PE4 5 +NX_Q52M93 769 88066 9.26 0 Nucleus NA PE1 19 +NX_Q52MB2 194 20484 4.04 0 Cytosol;Cytoplasm;Mitochondrion NA PE1 12 +NX_Q52WX2 424 46252 9.28 0 Cytoplasm NA PE1 16 +NX_Q537H7 98 11356 10.08 0 NA NA PE1 1 +NX_Q538Z0 58 6437 9.7 0 Lipid droplet NA PE2 7 +NX_Q53EL6 469 51735 5.07 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 10 +NX_Q53EL9 994 107425 5.16 1 Cytoskeleton;Cell membrane NA PE1 17 +NX_Q53EP0 1204 132888 5.64 1 Endoplasmic reticulum;Membrane NA PE1 3 +NX_Q53EQ6 642 69222 8.68 0 Nucleus NA PE1 8 +NX_Q53ET0 693 73302 6.6 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q53EU6 434 48705 9.05 3 Endoplasmic reticulum membrane;Cytosol;Cell membrane NA PE1 4 +NX_Q53EV4 343 39761 4.57 0 Nucleolus NA PE1 12 +NX_Q53EZ4 464 54178 6.55 0 Cleavage furrow;Cytoplasm;Midbody ring;Cell membrane;Centrosome;Centriole;Microtubule organizing center;Midbody Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly PE1 10 +NX_Q53F19 620 70593 5.55 0 Nucleus speckle;Nucleus;Cytoplasm NA PE1 17 +NX_Q53F39 396 45141 6.71 2 Nucleoplasm;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus NA PE1 18 +NX_Q53FA7 332 35536 6.66 0 Cytoplasmic vesicle NA PE1 2 +NX_Q53FD0 456 51658 9.58 0 Mitochondrion;Cytoplasm;Nucleus speckle NA PE1 14 +NX_Q53FE4 359 39644 9.4 0 NA NA PE1 4 +NX_Q53FP2 167 18440 10.09 4 Cytosol;Cytoplasmic vesicle;Focal adhesion;Peroxisome membrane NA PE1 X +NX_Q53FT3 197 21628 5.27 0 Cytosol;Cytoplasm;Nucleus Leukodystrophy, hypomyelinating, 13 PE1 11 +NX_Q53FV1 153 17363 9.64 2 Endoplasmic reticulum membrane NA PE1 12 +NX_Q53FZ2 586 66153 9.16 0 Mitochondrion matrix NA PE1 16 +NX_Q53G44 452 51322 6.33 0 Nucleoplasm;Cytoplasm NA PE1 1 +NX_Q53G59 568 63277 5.26 0 Cytoplasmic vesicle;COPII-coated vesicle;Microtubule organizing center NA PE1 1 +NX_Q53GA4 152 17092 9.3 0 Cytoplasm;Nucleolus;Membrane NA PE1 11 +NX_Q53GD3 710 79254 8.91 10 Apical cell membrane;Membrane Deafness, autosomal dominant, 72 PE1 6 +NX_Q53GG5 364 39232 6.42 0 Z line NA PE1 4 +NX_Q53GI3 561 64256 8.14 0 Cytosol;Nucleoplasm;Nucleus NA PE1 7 +NX_Q53GL0 409 46237 8.93 0 Mitochondrion;Cytoplasm;Nucleus;Cell membrane NA PE1 1 +NX_Q53GL7 1025 109998 4.9 0 Cytosol;Cytoplasm;Nucleolus NA PE1 8 +NX_Q53GQ0 312 34324 9.34 3 Endoplasmic reticulum membrane NA PE1 11 +NX_Q53GS7 698 79836 7.06 0 Cytoplasm;Nuclear pore complex;Nucleolus;Nucleus;Nucleus membrane Lethal arthrogryposis with anterior horn cell disease;Lethal congenital contracture syndrome 1 PE1 9 +NX_Q53GS9 565 65381 9.02 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q53GT1 634 71667 5.28 0 Golgi apparatus;Lysosome;Cytosol;Centrosome;Nucleus;Cytoskeleton;Spindle NA PE1 22 +NX_Q53H12 422 47137 8.3 0 Cytoplasmic vesicle;Mitochondrion;Mitochondrion inner membrane;Mitochondrion intermembrane space Mitochondrial DNA depletion syndrome 10;Cataract 38 PE1 7 +NX_Q53H47 684 78034 6.75 0 Nucleolus;Nucleus;Chromosome NA PE1 3 +NX_Q53H54 448 50236 8.21 0 Mitochondrion;Nucleoplasm NA PE1 8 +NX_Q53H64 114 13397 7.65 0 NA NA PE4 17 +NX_Q53H76 456 49715 7.11 0 Nucleus speckle;Secreted NA PE1 3 +NX_Q53H80 203 22496 8.96 0 Nucleoplasm;Nucleus NA PE1 6 +NX_Q53H82 288 32806 6.32 0 Mitochondrion matrix;Cytosol;Nucleus;Golgi apparatus NA PE1 8 +NX_Q53H96 274 28663 7.66 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 8 +NX_Q53HC0 331 36961 8.96 0 Centriole;Nucleoplasm;Centrosome NA PE1 12 +NX_Q53HC5 615 68139 6.04 0 NA NA PE1 19 +NX_Q53HC9 387 43603 4.87 0 Cytoskeleton;Nucleolus;Nucleus;trans-Golgi network NA PE1 2 +NX_Q53HI1 259 30373 9.5 5 Golgi apparatus membrane;Nucleus inner membrane;Endoplasmic reticulum NA PE1 2 +NX_Q53HL2 280 31323 9.88 0 Nucleolus;Cytoplasm;Nucleus;Cytoskeleton;Centromere;Spindle NA PE1 1 +NX_Q53HV7 270 29862 6.18 0 Cytoplasmic vesicle;Nucleus;Centrosome NA PE1 12 +NX_Q53LP3 525 55672 6.55 0 Cytosol NA PE1 2 +NX_Q53QV2 105 12217 4.33 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 2 +NX_Q53QW1 395 41589 4.97 0 Cytoplasm NA PE1 2 +NX_Q53QZ3 475 54544 9.42 0 Cytoplasmic vesicle;Cytoplasm;Membrane;Golgi apparatus;Nucleoplasm NA PE1 2 +NX_Q53R12 229 25075 6.4 4 Endoplasmic reticulum membrane;Focal adhesion;Cell membrane;Membrane Specific language impairment 5 PE1 2 +NX_Q53R41 847 97411 7.8 0 Mitochondrion;Nucleoplasm NA PE1 2 +NX_Q53RD9 439 47376 7.88 0 Cell junction;Cell membrane;Extracellular matrix NA PE1 2 +NX_Q53RE8 183 19651 6.39 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 2 +NX_Q53RT3 343 36991 5.28 1 Membrane NA PE1 2 +NX_Q53RY4 240 25627 8.12 4 Cytosol;Nucleus;Membrane NA PE1 2 +NX_Q53S08 254 28242 6.41 0 NA NA PE2 2 +NX_Q53S33 107 12114 9.66 0 Mitochondrion Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia PE1 2 +NX_Q53S58 311 33760 9.66 3 Mitochondrion inner membrane;Nucleolus;Nucleus NA PE1 2 +NX_Q53S99 150 16373 6.18 0 Endoplasmic reticulum NA PE2 2 +NX_Q53SF7 1204 131787 6.22 0 Cell junction NA PE1 2 +NX_Q53SZ7 412 44690 10.39 0 NA NA PE1 2 +NX_Q53T59 392 42780 4.89 0 Cytosol;Nucleolus NA PE1 2 +NX_Q53T94 588 68832 8.27 0 Nucleolus;Nucleus NA PE1 2 +NX_Q53TN4 286 31641 8.89 6 Cytosol;Golgi apparatus;Membrane NA PE1 2 +NX_Q53TQ3 878 98174 8.48 0 Nucleus NA PE1 2 +NX_Q53TS8 623 71159 6.55 0 NA NA PE1 2 +NX_Q562E7 1941 211697 5.37 0 Autophagosome membrane;Lysosome membrane;Cytosol;Early endosome membrane;Nucleoplasm;Late endosome membrane;Mitochondrion Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2;Hydrocephalus, congenital, 3, with brain anomalies PE1 17 +NX_Q562F6 1265 144739 8.09 0 Kinetochore;Centromere;Nucleus;Nucleoplasm NA PE1 2 +NX_Q562R1 376 42003 5.39 0 Cytoskeleton NA PE1 5 +NX_Q567U6 631 73198 8.24 0 Cytoplasmic vesicle;Cell membrane;Early endosome NA PE1 2 +NX_Q567V2 206 23180 9.41 3 Cytosol;Mitochondrion inner membrane;Cell membrane;Membrane NA PE1 19 +NX_Q569G3 176 19206 10.49 0 NA NA PE1 5 +NX_Q569H4 304 32812 9.09 0 Cytosol;Nucleus;Midbody NA PE1 5 +NX_Q569K4 471 50407 9.92 0 Nucleolus;Nucleus NA PE1 2 +NX_Q569K6 752 83941 6.76 0 NA NA PE1 22 +NX_Q56A73 249 28660 7.13 0 Cytosol;Nucleolus NA PE1 X +NX_Q56NI9 601 68307 9.46 0 Nucleus;Chromosome;Golgi apparatus SC phocomelia syndrome;Roberts syndrome PE1 8 +NX_Q56P03 285 32762 5 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA PE1 14 +NX_Q56P42 97 10795 5.21 0 Cytoplasm;Nucleus NA PE1 3 +NX_Q56UN5 1328 150537 6.61 0 Cytosol NA PE1 2 +NX_Q56UQ5 140 15757 5.81 0 NA NA PE2 X +NX_Q56VL3 154 16954 9.24 0 Mitochondrion;Endosome NA PE1 4 +NX_Q587I9 215 21790 9.96 4 Membrane NA PE1 2 +NX_Q587J7 1177 132578 6.3 0 NA NA PE1 19 +NX_Q587J8 217 24306 9.47 0 NA Hydatidiform mole, recurrent, 2 PE1 6 +NX_Q58A44 107 10968 10.45 0 Cytoplasm NA PE1 13 +NX_Q58A45 887 95613 8.8 0 P-body NA PE1 13 +NX_Q58DX5 795 88682 5.78 1 Nucleoplasm;Membrane NA PE1 3 +NX_Q58EX2 2172 239396 6.62 1 Nucleoplasm;Synapse;Cell membrane NA PE1 17 +NX_Q58EX7 1191 130803 5.43 0 Cell junction NA PE1 16 +NX_Q58F21 947 107954 9.05 0 Nucleus Spermatogenic failure 21 PE1 1 +NX_Q58FF3 399 45859 5.14 0 NA NA PE5 15 +NX_Q58FF6 505 58264 4.65 0 Cytoplasm NA PE5 15 +NX_Q58FF7 597 68325 4.71 0 Cytoplasm NA PE5 4 +NX_Q58FF8 381 44349 4.79 0 Cytoplasm NA PE1 4 +NX_Q58FG0 334 38738 6.15 0 Cytoplasm NA PE1 3 +NX_Q58FG1 418 47712 5.07 0 Cytoplasm NA PE5 4 +NX_Q58G82 188 21436 9.56 0 NA NA PE5 4 +NX_Q58HT5 328 37759 9.06 2 Endoplasmic reticulum membrane NA PE1 X +NX_Q58WW2 860 96292 5.14 0 Focal adhesion;Nucleus NA PE1 1 +NX_Q59EK9 446 49747 5.19 0 Cytoplasmic vesicle NA PE1 17 +NX_Q59GN2 51 6323 12.32 0 NA NA PE5 3 +NX_Q59H18 835 92851 6.27 0 Cytoplasm;Nucleus Cardiac conduction disease with or without dilated cardiomyopathy PE1 1 +NX_Q5BIV9 151 14522 11.36 0 Cell membrane NA PE2 10 +NX_Q5BJD5 291 32513 9.6 6 Endoplasmic reticulum membrane;Peroxisome NA PE1 11 +NX_Q5BJE1 867 102011 6.34 0 NA NA PE1 18 +NX_Q5BJF2 176 20848 9.42 4 Cytosol;Rough endoplasmic reticulum membrane;Cell membrane;Nucleus membrane NA PE1 17 +NX_Q5BJF6 829 95401 7.53 0 Centriole;Flagellum;Centrosome;Spindle pole;Cilium NA PE1 9 +NX_Q5BJH2 165 18822 6.27 4 Membrane NA PE1 4 +NX_Q5BJH7 314 34435 9.21 5 Cytoplasmic vesicle;Golgi apparatus;Membrane NA PE1 19 +NX_Q5BKT4 473 55606 9.4 12 Endoplasmic reticulum membrane NA PE2 12 +NX_Q5BKU9 147 15855 8.57 0 Cytoplasmic vesicle;Cytosol NA PE1 17 +NX_Q5BKX5 351 37779 7.13 0 NA NA PE1 19 +NX_Q5BKX6 768 83878 5.33 12 Cell membrane;Membrane NA PE1 8 +NX_Q5BKX8 364 41899 8.29 0 Sarcomere;Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Sarcolemma;Caveola NA PE1 9 +NX_Q5BKY1 277 31642 8.79 0 Nucleus NA PE1 12 +NX_Q5BKY6 102 10947 7.82 0 NA NA PE1 22 +NX_Q5BKY9 247 28385 10.02 0 Nucleus NA PE1 7 +NX_Q5BKZ1 582 65654 5.08 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus matrix;Golgi apparatus NA PE1 1 +NX_Q5BLP8 95 10170 8.69 0 Cytosol;Secreted NA PE1 4 +NX_Q5BN46 136 15260 9.06 0 Nucleoplasm;Cytosol NA PE1 9 +NX_Q5BVD1 217 24295 4.02 1 Endoplasmic reticulum membrane NA PE1 3 +NX_Q5C9Z4 860 96257 8.28 0 Nucleolus NA PE1 7 +NX_Q5CZ79 823 93909 8.55 0 NA NA PE2 2 +NX_Q5CZA5 627 71143 7.83 0 Nucleus NA PE1 19 +NX_Q5CZC0 6907 780607 6.27 0 Mitochondrion;Cytoskeleton NA PE1 2 +NX_Q5D0E6 543 59363 7.07 0 Nucleoplasm;Cytosol;Nucleus NA PE1 3 +NX_Q5D1E8 599 65699 6.5 0 P-body;Cytosol;Nucleoplasm;Cytoplasm;Cytoplasmic granule;Rough endoplasmic reticulum membrane;Nucleus NA PE1 1 +NX_Q5D862 2391 248073 8.45 0 Cytoplasm;Cytoplasmic granule NA PE1 1 +NX_Q5DID0 1318 144294 5.75 1 Cytoplasm;Cell membrane NA PE2 21 +NX_Q5DJT8 189 21363 9.67 0 NA NA PE2 X +NX_Q5DT21 86 9756 9.17 0 Secreted NA PE1 5 +NX_Q5DX21 431 46120 6.63 1 Cytosol;Nucleus;Cell junction;Cell membrane NA PE1 3 +NX_Q5EB52 335 38830 9.75 3 Endoplasmic reticulum membrane;Cytosol;Golgi apparatus NA PE1 7 +NX_Q5EBL2 1059 110887 8.69 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q5EBL4 403 47108 5.13 0 Cytosol;Nucleoplasm;Centrosome;Cell membrane;Cilium NA PE1 12 +NX_Q5EBL8 140 16131 6.65 0 Cytoplasm;Nucleus;Secreted NA PE1 X +NX_Q5EBM0 449 49448 6.57 0 Mitochondrion NA PE1 2 +NX_Q5EBM4 170 19729 9.47 0 Nucleus NA PE5 19 +NX_Q5EBN2 209 24047 8.83 0 Nucleolus;Endoplasmic reticulum NA PE2 4 +NX_Q5EE01 88 10061 11.29 0 Kinetochore;Nucleolus;Nucleoplasm;Nucleus;Nucleus matrix;Centromere NA PE1 6 +NX_Q5EG05 197 22625 8.72 0 Mitochondrion NA PE1 11 +NX_Q5F1R6 531 62028 5.34 0 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus Bone marrow failure syndrome 3 PE1 5 +NX_Q5FBB7 561 64190 9.27 0 Kinetochore;Cytosol;Centrosome;Nucleoplasm;Nucleus;Centromere;Spindle pole Chronic atrial and intestinal dysrhythmia PE1 3 +NX_Q5FVE4 666 74354 8.67 0 Cytosol;Cytoplasm;Membrane NA PE1 19 +NX_Q5FWE3 981 102197 7.7 7 Cytosol;Nucleus;Cell membrane;Membrane NA PE1 3 +NX_Q5FWF4 1079 123248 8.74 0 Nucleus;Chromosome NA PE1 2 +NX_Q5FWF5 840 94983 9.27 0 Nucleus;Chromosome NA PE1 18 +NX_Q5FWF6 425 49984 9.3 0 Nucleoplasm;Nucleus NA PE1 7 +NX_Q5FWF7 155 18241 6.9 0 Nucleus NA PE1 2 +NX_Q5FYA8 562 63525 8.48 2 Membrane NA PE2 X +NX_Q5FYB0 599 67235 9.15 0 Cytoskeleton;Nucleolus;Secreted NA PE1 4 +NX_Q5FYB1 569 64030 8.82 0 Golgi apparatus;Endoplasmic reticulum;Secreted NA PE1 5 +NX_Q5GAN3 156 17845 8.87 0 Secreted NA PE1 14 +NX_Q5GAN4 147 17177 6.64 0 Cytoplasmic vesicle;Cytoskeleton;Secreted NA PE2 14 +NX_Q5GAN6 216 24008 4.86 0 Secreted NA PE2 14 +NX_Q5GFL6 755 82012 8.38 0 Secreted NA PE1 10 +NX_Q5GH70 373 43406 8.55 8 Mitochondrion;Membrane NA PE1 8 +NX_Q5GH72 579 63826 9.22 7 Membrane NA PE1 20 +NX_Q5GH73 641 71638 8.19 7 Cytoskeleton;Membrane NA PE1 8 +NX_Q5GH76 650 71501 8.08 10 Membrane NA PE1 8 +NX_Q5GH77 459 53448 9.13 10 Cell membrane NA PE1 22 +NX_Q5GJ75 292 32659 8.75 0 Cytosol;Nucleoplasm;Cell membrane;Cytoplasm NA PE1 15 +NX_Q5GLZ8 1057 118563 5.8 0 Cytosol;Nucleolus NA PE1 10 +NX_Q5H8A3 153 17731 9.76 0 Secreted NA PE2 2 +NX_Q5H8A4 983 108173 6.7 12 Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum membrane Mental retardation, autosomal recessive 53 PE1 4 +NX_Q5H8C1 2179 244154 5.55 0 Basement membrane Manitoba oculotrichoanal syndrome;Bifid nose, with or without anorectal and renal anomalies;Trigonocephaly 2 PE1 9 +NX_Q5H913 290 33003 9.24 0 NA NA PE1 X +NX_Q5H943 113 12784 10.2 1 Cell membrane NA PE1 X +NX_Q5H9B9 411 46091 5.4 0 NA NA PE5 X +NX_Q5H9E4 307 34481 9.86 6 Mitochondrion inner membrane NA PE1 X +NX_Q5H9F3 1711 182526 6.9 0 Nucleoplasm;Nucleus;Cell membrane NA PE1 X +NX_Q5H9I0 405 44967 5.91 0 Cytoplasm;Nucleus NA PE1 X +NX_Q5H9J7 111 12602 4.73 0 Cytoplasm NA PE1 X +NX_Q5H9J9 407 46373 5.07 0 NA NA PE3 X +NX_Q5H9K5 638 74755 8.65 0 Nucleoplasm;Nucleus NA PE2 X +NX_Q5H9L2 206 23307 4.74 0 Nucleoplasm;Cytosol;Nucleus NA PE1 X +NX_Q5H9L4 462 52588 4.55 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 X +NX_Q5H9M0 696 79040 4.88 0 NA NA PE1 X +NX_Q5H9R4 360 39406 9.27 1 Membrane NA PE1 X +NX_Q5H9R7 873 97669 4.5 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane;Cytoplasm NA PE1 11 +NX_Q5H9S7 520 58778 6.58 2 Nucleoplasm;Nucleolus;Membrane Woodhouse-Sakati syndrome PE1 2 +NX_Q5H9T9 825 87956 4.22 0 Cytoplasm;Flagellum NA PE1 14 +NX_Q5H9U9 1706 197674 8.57 0 Cytosol;Cell membrane NA PE1 4 +NX_Q5HY64 1035 115338 6.74 0 NA NA PE2 X +NX_Q5HY92 759 82146 6.24 0 Nucleoplasm;Cell membrane;Cell junction;Cytoplasmic vesicle;Cytosol;Nucleus matrix;Centrosome NA PE1 2 +NX_Q5HY98 468 54507 9.55 0 Nucleus;Centrosome NA PE1 19 +NX_Q5HYA8 995 111745 6.34 6 Endoplasmic reticulum membrane;Cilium;Cell membrane;Cilium basal body Joubert syndrome 6;COACH syndrome;Nephronophthisis 11;Bardet-Biedl syndrome 14;Meckel syndrome 3 PE1 8 +NX_Q5HYC2 2103 228087 9.18 0 Cytoplasmic vesicle;Cytosol;Nucleus NA PE1 9 +NX_Q5HYI7 312 35093 7.64 0 Mitochondrion;Mitochondrion outer membrane NA PE1 5 +NX_Q5HYI8 236 26423 6.6 0 Nucleoplasm NA PE1 3 +NX_Q5HYJ1 363 42009 9.63 3 Endoplasmic reticulum;Membrane Ventricular tachycardia, catecholaminergic polymorphic, 3 PE1 4 +NX_Q5HYJ3 339 38708 9.38 0 Nucleus speckle;Nucleolus;Nucleus NA PE1 11 +NX_Q5HYK3 327 37140 6.47 0 Mitochondrion;Nucleolus;Mitochondrion inner membrane NA PE1 12 +NX_Q5HYK7 790 86525 8.54 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 4 +NX_Q5HYK9 610 70161 9.79 0 Nucleus NA PE1 19 +NX_Q5HYL7 178 19025 8.52 4 Membrane NA PE2 7 +NX_Q5HYM0 836 94205 7.6 0 Cytoplasmic vesicle;Golgi apparatus;Endoplasmic reticulum NA PE2 X +NX_Q5HYN5 189 21273 9.85 0 NA NA PE2 X +NX_Q5HYR2 192 20139 6.5 0 NA NA PE2 X +NX_Q5HYW2 709 76301 7.25 0 NA NA PE1 X +NX_Q5HYW3 569 64711 4.71 0 Nucleoplasm NA PE1 X +NX_Q5I0G3 518 58651 5.85 0 NA NA PE1 2 +NX_Q5I0X4 101 10566 8.02 0 Nucleus speckle NA PE1 6 +NX_Q5I0X7 151 17296 4.86 0 Nucleoplasm;Mitochondrion NA PE1 2 +NX_Q5I7T1 473 55448 9.33 12 Cell membrane NA PE1 12 +NX_Q5IJ48 1285 134265 5.31 1 Apical cell membrane;Secreted Ventriculomegaly with cystic kidney disease;Focal segmental glomerulosclerosis 9 PE1 9 +NX_Q5J5C9 76 8456 8.99 0 Secreted NA PE1 20 +NX_Q5J8M3 183 20087 8.84 2 Focal adhesion;Cell junction;Membrane NA PE1 15 +NX_Q5J8X5 152 17307 8.82 4 Membrane NA PE2 11 +NX_Q5JNZ3 666 76322 9.03 0 Nucleus NA PE1 6 +NX_Q5JNZ5 115 13002 10.55 0 NA NA PE5 X +NX_Q5JPB2 1677 177949 8.67 0 NA NA PE1 20 +NX_Q5JPE7 1267 139439 5.5 1 Endoplasmic reticulum membrane NA PE1 16 +NX_Q5JPF3 1778 199748 8.02 0 NA NA PE1 2 +NX_Q5JPH6 523 58689 8.97 0 Mitochondrion matrix;Mitochondrion;Nucleoplasm Combined oxidative phosphorylation deficiency 12 PE1 16 +NX_Q5JPI3 329 37541 6.01 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 3 +NX_Q5JPI9 291 31830 5.77 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 10 +NX_Q5JQC4 288 30100 4.2 0 NA NA PE1 X +NX_Q5JQC9 854 94477 6.56 0 Flagellum NA PE1 X +NX_Q5JQD4 70 7832 4.43 0 Secreted NA PE5 X +NX_Q5JQF7 62 7289 11.22 0 NA NA PE4 6 +NX_Q5JQF8 200 22799 9.18 0 NA NA PE1 X +NX_Q5JQS5 317 35342 9.12 7 Cell membrane NA PE2 1 +NX_Q5JQS6 135 15712 6.22 0 Cytosol NA PE1 1 +NX_Q5JR12 505 54834 7.19 0 Cytoplasmic vesicle NA PE1 1 +NX_Q5JR59 1369 150195 6.23 0 Cytoskeleton NA PE1 13 +NX_Q5JR98 221 23353 9.87 0 NA NA PE1 1 +NX_Q5JRA6 1907 213702 4.76 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA PE1 1 +NX_Q5JRC9 791 90592 9.24 0 NA NA PE1 X +NX_Q5JRK9 111 12041 4.06 0 NA NA PE1 X +NX_Q5JRM2 361 39944 9.59 1 Membrane NA PE1 X +NX_Q5JRS4 329 36549 8.66 7 Cell membrane NA PE3 1 +NX_Q5JRV8 349 38449 8.23 4 Nucleus;Membrane NA PE2 X +NX_Q5JRX3 1037 117413 6.45 0 Mitochondrion matrix;Mitochondrion NA PE1 10 +NX_Q5JS13 557 62133 9.21 0 Cytoplasm;Cell membrane NA PE1 9 +NX_Q5JS37 347 38283 5.98 0 Secreted NA PE1 13 +NX_Q5JS54 123 13775 6.04 0 Mitochondrion;Cytoplasm;Nucleus NA PE1 6 +NX_Q5JSH3 913 101366 5.29 0 Endosome membrane;Cytosol;Perinuclear region;trans-Golgi network;Golgi apparatus NA PE1 X +NX_Q5JSJ4 861 96673 8.89 0 Mitochondrion;Centrosome NA PE1 X +NX_Q5JSL3 2073 237671 7.87 0 Nucleolus;Nucleus membrane NA PE1 X +NX_Q5JSP0 725 79401 5.78 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA PE1 9 +NX_Q5JSQ8 128 14546 5.41 0 NA NA PE5 6 +NX_Q5JSS6 88 10795 9.14 0 NA NA PE1 10 +NX_Q5JST6 749 87397 7.14 0 NA NA PE1 X +NX_Q5JSZ5 2229 242967 8.55 0 Cytosol;Nucleus NA PE1 9 +NX_Q5JT25 222 25038 5.14 0 Cytoplasm NA PE1 X +NX_Q5JT78 98 10987 7.65 0 NA NA PE4 1 +NX_Q5JT82 389 42577 6.27 0 Nucleus NA PE1 1 +NX_Q5JTB6 97 10309 4.8 0 Secreted NA PE1 10 +NX_Q5JTC6 1135 124029 4.77 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cell membrane Osteopathia striata with cranial sclerosis PE1 X +NX_Q5JTD0 557 61821 5.67 0 Tight junction;Golgi apparatus NA PE1 6 +NX_Q5JTD7 316 33409 4.73 0 Cytosol NA PE1 6 +NX_Q5JTH9 1297 143702 8.97 1 Nucleolus;Nucleus membrane NA PE1 10 +NX_Q5JTJ3 125 14116 8.54 0 Mitochondrion;Mitochondrion intermembrane space Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 PE1 1 +NX_Q5JTN6 314 34312 8.89 0 NA NA PE1 9 +NX_Q5JTV8 583 66248 8.22 1 Nucleus inner membrane;Nucleus membrane Limb-girdle muscular dystrophy 2Y PE1 1 +NX_Q5JTW2 689 76396 8.47 0 Centriole;Centrosome;Cilium basal body Cone-rod dystrophy and hearing loss PE1 9 +NX_Q5JTY5 395 44038 4.76 0 NA NA PE2 9 +NX_Q5JTZ5 239 26314 8.94 0 Nucleus NA PE1 9 +NX_Q5JTZ9 985 107340 5.87 0 Mitochondrion Leukoencephalopathy, progressive, with ovarian failure;Combined oxidative phosphorylation deficiency 8 PE1 6 +NX_Q5JU00 501 55632 6.31 0 Cytoplasmic vesicle;Flagellum axoneme;Flagellum NA PE1 6 +NX_Q5JU67 520 60533 8.88 0 Cytosol;Cell membrane;Cilium basal body NA PE1 9 +NX_Q5JU69 321 35714 8.13 0 Endoplasmic reticulum lumen NA PE1 9 +NX_Q5JU85 1488 162784 8.78 0 Cytoplasmic vesicle;Cytoplasm Mental retardation, X-linked 1 PE1 X +NX_Q5JUK2 328 34526 5.27 0 Nucleus speckle;Nucleus;Cytoplasm Ovarian dysgenesis 5 PE1 9 +NX_Q5JUK3 1230 138343 7.48 6 Cell membrane Epileptic encephalopathy, early infantile, 14;Epilepsy, nocturnal frontal lobe, 5 PE1 9 +NX_Q5JUK9 113 12480 4.61 0 NA NA PE1 X +NX_Q5JUQ0 283 31968 8.22 0 Cytoplasmic vesicle;Nucleus NA PE1 9 +NX_Q5JUR7 227 25585 8.9 0 NA NA PE1 13 +NX_Q5JUW0 171 20100 5.54 0 NA NA PE1 X +NX_Q5JUX0 258 29207 6.31 0 Nucleoplasm NA PE1 X +NX_Q5JV73 1810 199209 8.44 0 NA NA PE1 X +NX_Q5JVF3 399 46030 8.78 0 Nucleolus;Nucleus NA PE1 13 +NX_Q5JVG2 852 98221 8.68 0 Nucleoplasm;Cytosol;Nucleus;Nucleus membrane NA PE1 9 +NX_Q5JVG8 444 51537 9.42 0 Nucleus NA PE1 19 +NX_Q5JVL4 640 73990 5.82 0 Cytosol;Spindle;Spindle pole;Cell membrane;Centrosome Juvenile myoclonic epilepsy 1;Juvenile absence epilepsy 1 PE1 6 +NX_Q5JVS0 413 45785 6.97 0 Nucleus speckle;Nucleolus;Cajal body;Stress granule;Cytoplasm;Nuclear body;Sarcoplasm;Nucleus;Gem NA PE1 9 +NX_Q5JVX7 400 46135 9.7 0 NA NA PE2 1 +NX_Q5JW98 314 35060 6.44 4 Membrane NA PE1 6 +NX_Q5JWF2 1037 111025 4.91 0 Apical cell membrane;Cell membrane Pseudohypoparathyroidism 1B;Pseudohypoparathyroidism 1C;ACTH-independent macronodular adrenal hyperplasia 1;GNAS hyperfunction PE1 20 +NX_Q5JWF8 245 26751 9.5 0 NA NA PE1 20 +NX_Q5JWR5 2465 277355 5.88 0 Cytoplasmic vesicle;Nucleus;Golgi apparatus membrane NA PE1 6 +NX_Q5JX69 171 19499 9.08 1 Membrane NA PE1 20 +NX_Q5JX71 171 19603 9.51 1 Membrane NA PE1 20 +NX_Q5JXA9 342 36968 5.47 1 Nucleus;Membrane NA PE1 20 +NX_Q5JXB2 153 17377 5.66 0 NA NA PE1 X +NX_Q5JXC2 388 42824 8.68 0 Cytosol;Nucleoplasm NA PE1 1 +NX_Q5JXM2 366 41330 9.41 0 Secreted NA PE2 6 +NX_Q5JXX5 417 47728 8.5 3 Perikaryon;Synapse;Postsynaptic cell membrane;Cell membrane;Dendrite NA PE2 X +NX_Q5JXX7 168 19813 6.09 2 Nucleolus;Membrane NA PE1 X +NX_Q5JY77 1395 156865 4.64 0 Cytosol;Cytoplasm NA PE1 X +NX_Q5JYT7 1200 130846 5.97 0 Cytoplasmic vesicle;Nucleolus;Golgi apparatus NA PE1 20 +NX_Q5JZY3 1008 109716 6.52 1 Cell membrane;Secreted NA PE1 1 +NX_Q5K130 101 10963 9.55 0 NA NA PE5 12 +NX_Q5K131 121 14228 9.08 0 Cytoplasm NA PE2 12 +NX_Q5K4E3 855 91955 5.41 0 Extracellular matrix NA PE1 16 +NX_Q5K4L6 730 78644 7.25 2 Endoplasmic reticulum;Mitochondrion membrane NA PE1 1 +NX_Q5K651 1589 184281 7.98 0 Cytosol;Cytoplasm;Cytoplasmic vesicle Tumoral calcinosis, normophosphatemic, familial;MIRAGE syndrome PE1 7 +NX_Q5KSL6 1271 141829 5.36 0 Cytoplasm;Membrane NA PE1 X +NX_Q5KU26 742 81515 5.48 1 Cytoplasmic vesicle;Cell junction;Golgi apparatus;Membrane NA PE1 18 +NX_Q5M775 1068 118585 6.29 0 Nucleus;Membrane NA PE1 17 +NX_Q5M7Z0 435 49710 8.85 6 Endoplasmic reticulum membrane;Nucleolus NA PE1 17 +NX_Q5M8T2 416 44183 6.94 10 Membrane;Microtubule organizing center NA PE1 6 +NX_Q5M9N0 1113 127140 6.08 0 NA NA PE1 4 +NX_Q5M9Q1 402 46312 9.73 0 Nucleus NA PE2 6 +NX_Q5MAI5 379 43384 9 0 Cytoplasm NA PE2 2 +NX_Q5MCW4 686 79583 8.97 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Golgi apparatus NA PE1 19 +NX_Q5MIZ7 849 97458 4.87 0 Nucleoplasm;Cytoplasm;Nucleus;Centrosome;Nucleus speckle NA PE1 2 +NX_Q5MJ07 72 8277 8.6 0 NA NA PE2 X +NX_Q5MJ08 99 11168 9.25 0 NA NA PE1 X +NX_Q5MJ09 141 15595 4.22 0 NA NA PE1 X +NX_Q5MJ10 180 19917 3.86 0 NA NA PE1 X +NX_Q5MJ68 293 33166 8.4 0 Cytoplasm NA PE1 11 +NX_Q5MJ70 313 36463 9.07 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q5MNV8 452 51968 8.69 0 NA NA PE2 17 +NX_Q5MNZ6 344 38122 7.53 0 Cytosol;Preautophagosomal structure;Nucleus;Golgi apparatus;Lysosome Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures PE1 17 +NX_Q5MNZ9 446 48673 6.14 0 Endosome;Preautophagosomal structure membrane;Clathrin-coated vesicle;Cytoskeleton;trans-Golgi network NA PE1 17 +NX_Q5MY95 495 53904 5.19 2 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Cell membrane NA PE1 9 +NX_Q5NDL2 527 62011 6.58 0 Nucleoplasm;Cytosol;Endoplasmic reticulum lumen;Nucleus membrane Adams-Oliver syndrome 4 PE1 3 +NX_Q5NE16 218 25059 6.64 0 NA NA PE5 9 +NX_Q5NUL3 377 42241 9.52 7 Cell membrane NA PE1 10 +NX_Q5PR19 223 24634 10.47 0 NA NA PE2 9 +NX_Q5PRF9 694 75483 6.37 0 Cytosol;Cytoplasm;Nucleus NA PE1 19 +NX_Q5PSV4 323 37629 5.04 0 Nucleoplasm;Nucleus NA PE1 14 +NX_Q5PT55 438 48871 9.02 9 Cell membrane;Membrane NA PE2 8 +NX_Q5QFB9 102 12196 9.78 2 Endoplasmic reticulum membrane NA PE5 9 +NX_Q5QGS0 1516 167551 6.03 0 Nucleoplasm;Cytoplasm;Nucleus;Midbody Mental retardation, X-linked 98 PE1 X +NX_Q5QGT7 225 26068 5.63 1 Cell membrane NA PE1 3 +NX_Q5QGZ9 265 30762 8.87 1 Cell membrane NA PE1 12 +NX_Q5QJ38 904 99275 4.62 0 Nucleolus;Nucleus membrane NA PE1 1 +NX_Q5QJ74 424 48195 5.23 0 Cytosol;Cytoskeleton NA PE1 11 +NX_Q5QJE6 756 84469 5.86 0 Nucleolus;Nucleus NA PE1 1 +NX_Q5QJU3 275 31309 7.87 7 Golgi apparatus membrane NA PE1 9 +NX_Q5QNW6 126 13920 10.31 0 Nucleus;Chromosome NA PE1 1 +NX_Q5QP82 559 60582 7.3 0 Nucleolus NA PE1 9 +NX_Q5R372 815 92513 5.18 0 Cytoplasmic vesicle;Cytosol;Nucleolus;Golgi apparatus;Early endosome Leukemia, acute myelogenous PE1 1 +NX_Q5R387 149 16844 8.89 0 Secreted NA PE3 1 +NX_Q5R3F8 820 89687 7.56 1 Cytoplasmic vesicle;Nucleoplasm;Membrane NA PE1 22 +NX_Q5R3I4 469 52787 5.61 0 Cytosol NA PE1 22 +NX_Q5R3K3 315 34458 8.87 4 Membrane NA PE1 6 +NX_Q5RGS3 127 14779 10.5 1 Membrane NA PE1 9 +NX_Q5RHP9 1530 168466 4.84 0 NA NA PE1 1 +NX_Q5RI15 118 13291 9 2 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex IV deficiency PE1 1 +NX_Q5RIA9 395 44068 4.76 0 Cytoplasm;Nucleus NA PE2 9 +NX_Q5RKV6 272 28235 6.06 0 Cytoplasm;Nucleolus;Nucleus NA PE1 16 +NX_Q5RL73 367 41808 8.92 0 Nucleoplasm;Nucleus NA PE1 7 +NX_Q5S007 2527 286103 6.35 0 Axon;Synaptic vesicle membrane;Perikaryon;Golgi apparatus;Lysosome;Cytoplasm;Mitochondrion matrix;Endosome;Endoplasmic reticulum;Mitochondrion outer membrane;Cytoplasmic vesicle;Dendrite;Mitochondrion inner membrane;Membrane;Mitochondrion;Nucleus Parkinson disease 8 PE1 12 +NX_Q5SGD2 360 41053 5.58 1 Cytosol;Nucleoplasm;Membrane NA PE1 3 +NX_Q5SNT2 666 72236 9.42 5 Nucleus inner membrane;Nucleus;Spindle pole;Nucleus membrane NA PE1 1 +NX_Q5SNV9 1468 162423 10.71 0 NA NA PE2 1 +NX_Q5SQ64 297 32465 8.91 1 Cell membrane NA PE1 6 +NX_Q5SQ80 823 94087 8.12 0 NA NA PE4 9 +NX_Q5SQH8 315 35794 8.99 0 NA NA PE1 6 +NX_Q5SQI0 421 46810 9.97 0 Golgi apparatus;Cytosol;Cytoplasm;Clathrin-coated pit;Axon;Focal adhesion;Spindle;Cytoskeleton NA PE1 6 +NX_Q5SQN1 464 52562 8.87 0 Cytosol;Perinuclear region;Endomembrane system NA PE1 1 +NX_Q5SQQ9 334 34713 9.47 0 Nucleolus;Nucleus Microphthalmia, syndromic, 11 PE1 10 +NX_Q5SQS7 431 51232 5.87 0 NA NA PE2 10 +NX_Q5SQS8 335 39268 9.5 0 NA NA PE1 10 +NX_Q5SR53 167 18168 9.65 0 NA NA PE5 1 +NX_Q5SR56 506 54545 5.16 12 Cytosol;Nucleoplasm;Membrane NA PE1 9 +NX_Q5SRD0 308 33372 5.2 0 NA NA PE3 10 +NX_Q5SRD1 257 28048 9.47 2 Mitochondrion inner membrane NA PE5 10 +NX_Q5SRE5 1749 196043 6.27 0 Nuclear pore complex;Nucleus NA PE1 9 +NX_Q5SRE7 291 32411 5.88 0 Nucleus speckle NA PE1 9 +NX_Q5SRH9 613 69778 7.25 0 Centrosome NA PE1 1 +NX_Q5SRI9 462 53671 9.14 1 Golgi apparatus membrane;Golgi apparatus NA PE1 6 +NX_Q5SRN2 563 61626 9.28 2 Membrane NA PE1 6 +NX_Q5SRR4 150 16650 8.04 0 Cytosol;Nucleoplasm;Secreted NA PE1 6 +NX_Q5SSG8 566 54228 4.8 1 Cell membrane NA PE1 6 +NX_Q5SSJ5 553 61207 9.69 0 Nucleus speckle;Nucleus;Chromosome NA PE1 1 +NX_Q5SSQ6 148 16650 7.88 0 Cytoplasmic vesicle;Cell junction NA PE2 6 +NX_Q5ST30 1063 118490 6.56 0 Mitochondrion Combined oxidative phosphorylation deficiency 20 PE1 6 +NX_Q5SV17 173 19908 7.71 2 Synapse;Cell membrane Spinocerebellar ataxia 21 PE1 1 +NX_Q5SV97 790 81351 5.4 0 Cytoplasm;Nucleus NA PE1 1 +NX_Q5SVJ3 147 17617 9.64 0 NA NA PE1 1 +NX_Q5SVQ8 909 105192 8.17 0 Cytosol;Nucleus;Nucleus membrane NA PE1 1 +NX_Q5SVS4 291 32475 9.49 6 Nucleoplasm;Mitochondrion inner membrane NA PE1 13 +NX_Q5SVZ6 1142 128717 7.51 0 Nucleus;Microtubule organizing center NA PE1 1 +NX_Q5SW24 774 82700 9.09 0 NA NA PE2 6 +NX_Q5SW79 1584 175293 6.64 0 Centriole;Spindle NA PE1 1 +NX_Q5SW96 308 33885 6.25 0 Cytoplasm;Cytoskeleton Hypercholesterolemia, autosomal recessive PE1 1 +NX_Q5SWA1 713 79152 4.59 0 Golgi apparatus Microcephaly, short stature, and impaired glucose metabolism 2 PE1 1 +NX_Q5SWH9 247 27551 9.98 5 Nucleoplasm;Membrane NA PE1 1 +NX_Q5SWL7 426 49433 8.7 0 NA NA PE3 1 +NX_Q5SWL8 479 55208 7.99 0 NA NA PE3 1 +NX_Q5SWW7 151 16057 6.95 0 Nucleus NA PE1 10 +NX_Q5SWX8 454 51103 5.62 2 Nucleoplasm;Cell membrane;Membrane NA PE1 1 +NX_Q5SXH7 462 51763 5.55 0 Centrosome NA PE1 10 +NX_Q5SXM1 525 61411 9.36 0 Mitochondrion;Cytosol;Nucleolus;Nucleus NA PE1 1 +NX_Q5SXM2 1469 159433 8.51 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE1 9 +NX_Q5SXM8 178 19204 9.88 0 Nucleoplasm;Mitochondrion NA PE1 9 +NX_Q5SY13 56 6588 10.35 0 NA NA PE5 9 +NX_Q5SY16 702 79323 9.3 0 Cytoskeleton;Nucleolus;Nucleus NA PE1 1 +NX_Q5SY68 101 11302 4.99 0 NA NA PE1 1 +NX_Q5SY80 951 109662 6.86 1 Flagellum membrane NA PE1 1 +NX_Q5SY85 155 16478 9.12 0 NA NA PE4 9 +NX_Q5SYB0 1578 173437 5.14 0 Cytosol;Cell membrane NA PE1 9 +NX_Q5SYC1 327 38000 5.8 0 trans-Golgi network membrane;Early endosome membrane;Clathrin-coated vesicle NA PE1 6 +NX_Q5SYE7 1610 170668 6.52 0 Nucleoplasm;Nucleus membrane NA PE1 6 +NX_Q5SZB4 431 47639 10.38 0 NA NA PE2 9 +NX_Q5SZD1 244 26754 8.14 0 Nucleus membrane NA PE1 6 +NX_Q5SZD4 288 32704 9.06 0 NA NA PE1 6 +NX_Q5SZI1 272 28581 5.45 1 Membrane NA PE1 1 +NX_Q5SZJ8 279 31222 8.54 0 Nucleus;Cell membrane NA PE1 6 +NX_Q5SZK8 3169 351157 4.89 1 Cytosol;Cell membrane Fraser syndrome 2 PE1 13 +NX_Q5SZL2 805 91808 5.98 0 Centrosome NA PE1 6 +NX_Q5SZQ8 465 50548 8.74 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q5T011 3432 378029 5.85 0 Nucleoplasm;Cytoplasmic vesicle;Cytoskeleton;Lysosome membrane;Peroxisome Epileptic encephalopathy, early infantile, 18 PE1 1 +NX_Q5T013 277 30406 5.36 0 Cytosol;Golgi apparatus;Cell membrane NA PE1 1 +NX_Q5T035 196 20715 6.78 0 Mitochondrion NA PE4 9 +NX_Q5T036 256 27929 11.93 0 NA NA PE2 9 +NX_Q5T089 497 53850 6.64 0 Mitochondrion;Nucleus NA PE1 1 +NX_Q5T0B9 420 45814 9.7 0 Nucleolus;Nucleus NA PE1 1 +NX_Q5T0D9 272 30212 6.85 0 Cytoplasmic vesicle;Cytosol;Synaptic vesicle membrane NA PE1 1 +NX_Q5T0F9 858 94224 5.18 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 1 +NX_Q5T0J3 134 15074 9.92 0 NA NA PE2 1 +NX_Q5T0J7 233 26518 9.22 0 Cytoskeleton NA PE1 1 +NX_Q5T0L3 261 29150 7.48 0 Nucleus membrane NA PE1 1 +NX_Q5T0N1 1121 125721 5.57 0 Cilium NA PE1 10 +NX_Q5T0N5 605 70065 6.2 0 Cytosol;Cytoplasm;Cell cortex;Cell membrane;Cytoplasmic vesicle;Cytoskeleton NA PE1 1 +NX_Q5T0T0 291 32965 8.1 2 Early endosome membrane;Lysosome membrane;Cytoplasmic vesicle membrane NA PE1 10 +NX_Q5T0U0 273 32206 6.54 0 Cytoplasmic vesicle;Nucleus NA PE1 13 +NX_Q5T0W9 1011 114799 9.04 0 Cytoplasm;Membrane NA PE1 6 +NX_Q5T0Z8 1188 124034 9.48 0 Cytosol;Golgi apparatus NA PE1 6 +NX_Q5T124 520 57373 5.06 0 Cytosol;Cytoskeleton;Nucleolus NA PE1 1 +NX_Q5T160 578 65505 8.41 0 Mitochondrion matrix;Cytosol;Nucleus Pontocerebellar hypoplasia 6 PE1 6 +NX_Q5T197 706 80712 9.28 6 Cell membrane NA PE1 1 +NX_Q5T1A1 773 86230 8.51 6 Membrane NA PE1 1 +NX_Q5T1B0 1012 118027 5.49 0 NA NA PE1 1 +NX_Q5T1B1 145 15403 6.9 0 NA NA PE2 10 +NX_Q5T1C6 240 27130 8.58 0 Cytoplasm;Cell membrane;Mitochondrion inner membrane;Ruffle membrane;Mitochondrion intermembrane space;Mitochondrion NA PE1 1 +NX_Q5T1H1 3165 350796 5.5 0 Secreted Retinitis pigmentosa 25 PE1 6 +NX_Q5T1J5 151 15490 9.95 0 Mitochondrion NA PE5 9 +NX_Q5T1J6 154 17173 6.49 0 NA NA PE2 20 +NX_Q5T1M5 1219 133630 5.11 0 Cytosol;Axon;Nucleolus;Early endosome;Cytoplasm NA PE1 9 +NX_Q5T1N1 836 92864 6.36 0 NA NA PE2 1 +NX_Q5T1Q4 408 45346 7.04 10 Cytosol;Nucleoplasm;Membrane;Microtubule organizing center NA PE1 6 +NX_Q5T1R4 2406 259465 7.85 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q5T1S8 102 11082 9.86 1 Cell membrane NA PE2 1 +NX_Q5T1V6 619 68810 7.18 0 Cytoplasm;Cytoskeleton;Nucleus Orofaciodigital syndrome 5 PE1 1 +NX_Q5T200 1668 196635 9.45 0 Nucleoplasm;Nucleus speckle;Cytoskeleton;Nucleus membrane NA PE1 13 +NX_Q5T215 181 20566 8.11 0 cis-Golgi network;Endoplasmic reticulum NA PE1 6 +NX_Q5T230 341 36439 10.9 0 Nucleus NA PE1 10 +NX_Q5T280 376 42009 7.11 0 Kinetochore;Spindle;Nucleolus;Nucleus;Centrosome NA PE1 9 +NX_Q5T292 105 11325 9.58 1 Membrane NA PE1 10 +NX_Q5T2D2 321 35127 9.68 1 Cell membrane NA PE1 6 +NX_Q5T2D3 398 45124 8.47 0 Cytosol;Nucleoplasm;Cytoskeleton NA PE1 1 +NX_Q5T2E6 689 78710 6.13 1 Cytoplasmic vesicle;Membrane NA PE1 10 +NX_Q5T2L2 129 14588 5.92 0 Cytoplasm NA PE5 10 +NX_Q5T2N8 411 46380 9.37 0 NA NA PE1 1 +NX_Q5T2Q4 361 41278 6.17 0 NA NA PE3 10 +NX_Q5T2R2 415 46261 9.17 0 Cytosol;Mitochondrion Coenzyme Q10 deficiency, primary, 2 PE1 10 +NX_Q5T2S8 1044 115679 7.98 0 Cilium axoneme;Cilium basal body Ciliary dyskinesia, primary, 23 PE1 10 +NX_Q5T2T1 576 65524 6.65 0 Adherens junction;Cell junction;Tight junction;Membrane NA PE1 10 +NX_Q5T2W1 519 57129 5.36 0 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Membrane NA PE1 1 +NX_Q5T319 152 15775 6.04 0 NA NA PE2 20 +NX_Q5T3F8 832 94958 7.23 10 Cytoskeleton;Cell membrane;Membrane NA PE1 6 +NX_Q5T3I0 446 50381 9.64 0 Nucleolus;Nucleus NA PE1 1 +NX_Q5T3J3 769 84568 9.72 0 Nucleus;Nucleus matrix;Chromosome;Microtubule organizing center NA PE1 1 +NX_Q5T3U5 1492 161629 6.64 17 Cell membrane NA PE1 6 +NX_Q5T3Y7 98 11178 9.18 0 NA NA PE5 6 +NX_Q5T440 356 38155 9.88 0 Mitochondrion Spastic paraplegia 74, autosomal recessive;Multiple mitochondrial dysfunctions syndrome 3 PE1 1 +NX_Q5T442 439 47002 7.56 4 Gap junction;Cell membrane Spastic paraplegia 44, autosomal recessive;Leukodystrophy, hypomyelinating, 2;Lymphedema, hereditary, 1C PE1 1 +NX_Q5T447 861 97113 5.47 0 Perinuclear region NA PE1 1 +NX_Q5T481 1227 134357 5.48 0 Cytoskeleton;Nucleolus;Nucleus;Golgi apparatus Cardiomyopathy, dilated 1DD PE1 10 +NX_Q5T4B2 595 67592 5.7 0 Endoplasmic reticulum lumen;Nucleus;Cell junction;Nucleolus NA PE1 9 +NX_Q5T4D3 741 82991 9.11 12 Cytoplasmic vesicle;Membrane NA PE1 13 +NX_Q5T4F4 411 45843 5.09 2 Cytosol;Endoplasmic reticulum membrane;Nucleoplasm;Recycling endosome membrane;Growth cone membrane Spastic paraplegia 33, autosomal dominant PE1 10 +NX_Q5T4F7 317 35563 8.88 0 Secreted NA PE1 10 +NX_Q5T4H9 136 14851 11.17 0 Nucleoplasm NA PE2 10 +NX_Q5T4I8 152 17383 4.52 0 Nucleus speckle NA PE2 6 +NX_Q5T4S7 5183 573841 5.7 2 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Membrane;Cytoskeleton;Centrosome NA PE1 1 +NX_Q5T4T1 132 14360 10.4 3 Centrosome;Cell membrane NA PE1 6 +NX_Q5T4T6 812 93599 5.57 0 Nucleoplasm;Centromere;Nucleus NA PE1 6 +NX_Q5T4W7 220 22878 11.7 0 Secreted NA PE1 1 +NX_Q5T5A4 169 19350 9.27 0 Cytosol;Nucleus speckle NA PE1 1 +NX_Q5T5A8 94 9729 8.73 0 NA NA PE1 1 +NX_Q5T5B0 92 9507 9.07 0 NA NA PE1 1 +NX_Q5T5C0 1151 127573 6.96 0 Synapse;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle membrane;Synaptic vesicle NA PE1 6 +NX_Q5T5D7 378 43945 9.06 0 Cytosol;Nucleus NA PE1 1 +NX_Q5T5F5 129 14090 11.14 0 NA NA PE2 1 +NX_Q5T5J6 900 103222 8.98 0 Cytosol NA PE1 1 +NX_Q5T5M9 372 42581 6.75 0 Nucleoplasm;Golgi apparatus NA PE2 10 +NX_Q5T5N4 469 53772 8.61 0 Mitochondrion NA PE2 6 +NX_Q5T5P2 1943 214116 6.59 0 Cytosol;Cytoplasm;Nucleus NA PE1 10 +NX_Q5T5S1 534 62689 8.93 0 NA NA PE1 9 +NX_Q5T5U3 1957 217331 7.85 0 Cytoskeleton;Cytoplasmic vesicle membrane;Golgi apparatus membrane;Cell junction;Cell membrane NA PE1 10 +NX_Q5T5X7 828 94475 5.29 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 6 +NX_Q5T5Y3 1602 177972 6.28 0 Cytosol;Cytoskeleton;Spindle NA PE1 9 +NX_Q5T601 910 101365 8.91 7 Cell membrane;Secreted NA PE1 6 +NX_Q5T619 568 62341 8.97 0 Nucleus NA PE1 1 +NX_Q5T653 305 33301 11.29 0 Nucleoplasm;Mitochondrion NA PE1 6 +NX_Q5T655 872 103417 8.44 0 Nucleus;Cilium NA PE1 10 +NX_Q5T681 223 25128 7.08 0 NA NA PE1 10 +NX_Q5T686 147 16773 10.84 0 Nucleus;Cell membrane NA PE1 10 +NX_Q5T699 404 46784 8.77 0 NA NA PE5 6 +NX_Q5T6C5 722 77181 9.4 0 Cytoplasmic vesicle;Cytosol;Nucleolus NA PE1 1 +NX_Q5T6F0 453 50517 9.23 0 Cytoplasm;Centrosome NA PE1 9 +NX_Q5T6F2 1119 117116 6.89 0 Cytosol NA PE1 9 +NX_Q5T6J7 187 20578 5.84 0 Mitochondrion;Cytosol NA PE1 9 +NX_Q5T6L9 678 77788 6.28 2 Cytosol;Endoplasmic reticulum membrane Periventricular nodular heterotopia 6 PE1 6 +NX_Q5T6M2 205 23040 11.95 0 NA NA PE5 6 +NX_Q5T6R2 138 15541 6.89 0 NA NA PE5 13 +NX_Q5T6S3 580 65591 9.08 0 Nucleus NA PE1 9 +NX_Q5T6V5 341 39029 5.61 0 Golgi apparatus NA PE1 9 +NX_Q5T6X4 162 17685 10.77 1 Membrane NA PE1 6 +NX_Q5T6X5 926 104753 8.29 7 Cell membrane NA PE1 6 +NX_Q5T700 205 21834 5.33 1 Nucleoplasm;Golgi apparatus;Membrane NA PE1 1 +NX_Q5T742 122 14441 10.26 0 Secreted NA PE2 10 +NX_Q5T749 579 64136 8.72 0 Cytoplasm NA PE1 1 +NX_Q5T750 250 26238 8.41 0 NA NA PE1 1 +NX_Q5T751 118 11543 8.83 0 NA NA PE2 1 +NX_Q5T752 114 11230 8.82 0 NA NA PE1 1 +NX_Q5T753 118 11616 8.71 0 NA NA PE1 1 +NX_Q5T754 118 11654 8.83 0 NA NA PE1 1 +NX_Q5T764 474 54993 7.62 0 NA NA PE1 10 +NX_Q5T7B8 1368 151903 6.69 0 Centriole NA PE1 9 +NX_Q5T7M4 302 32416 9.41 0 Cytoplasmic vesicle;Secreted NA PE1 1 +NX_Q5T7M9 428 49024 6.92 1 Endoplasmic reticulum membrane;Cytosol;Nucleus NA PE1 1 +NX_Q5T7N2 865 98850 4.87 0 NA NA PE1 1 +NX_Q5T7N3 995 107342 5.15 0 Cytosol;Cytoplasm;Cytoskeleton NA PE1 1 +NX_Q5T7N8 215 24905 11.93 0 NA NA PE3 9 +NX_Q5T7P2 110 10982 8.84 0 NA NA PE1 1 +NX_Q5T7P3 118 11626 8.83 0 NA NA PE1 1 +NX_Q5T7P6 136 15193 4.87 2 Membrane NA PE2 1 +NX_Q5T7P8 510 57325 8.47 1 Cytoplasmic vesicle;Cytosol;Synaptic vesicle membrane;Cell membrane;Membrane NA PE1 1 +NX_Q5T7R7 199 22411 7.67 1 Membrane NA PE1 1 +NX_Q5T7V8 394 44993 6.66 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus Geroderma osteodysplasticum PE1 1 +NX_Q5T7W0 954 104956 6.7 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q5T7W7 516 58263 6.89 0 Nucleoplasm NA PE1 9 +NX_Q5T848 1215 135489 8.57 7 Cytosol;Cell membrane NA PE1 10 +NX_Q5T870 116 12904 4.96 0 NA NA PE1 1 +NX_Q5T871 98 10697 8.44 0 NA NA PE1 1 +NX_Q5T890 1561 177127 8.83 0 Mitochondrion;Cytosol;Nucleus;Centrosome;Nucleoplasm Bone marrow failure syndrome 2 PE1 9 +NX_Q5T8A7 1209 127351 8.84 0 Nucleoplasm;Nucleolus NA PE1 9 +NX_Q5T8D3 534 60092 5.19 1 Peroxisome membrane;Peroxisome NA PE1 10 +NX_Q5T8I3 360 39308 6.62 0 Cytosol;Nucleolus NA PE1 1 +NX_Q5T8I9 393 44525 5.16 0 Cytoplasm;Focal adhesion;Cell membrane NA PE1 1 +NX_Q5T8P6 1007 113597 9.21 0 Nucleus speckle NA PE1 13 +NX_Q5T8R8 295 31184 11.77 0 NA NA PE1 9 +NX_Q5T953 404 42109 6.45 0 Nucleus NA PE1 9 +NX_Q5T9A4 648 72573 9.3 0 Mitochondrion inner membrane NA PE1 1 +NX_Q5T9C2 384 41785 8.83 0 Cytosol NA PE1 9 +NX_Q5T9C9 394 44572 9.63 0 Cytosol;Cytoplasm;Membrane NA PE1 9 +NX_Q5T9G4 340 38632 8.02 0 Nucleoplasm;Cell membrane NA PE1 6 +NX_Q5T9L3 541 62253 6.98 7 Endoplasmic reticulum membrane;Cytoplasmic vesicle membrane;Early endosome membrane;Golgi apparatus membrane;Cell membrane NA PE1 1 +NX_Q5T9S5 1454 168962 5.52 0 Cytosol;Nucleoplasm NA PE1 1 +NX_Q5T9Z0 273 31315 8.02 6 Membrane NA PE2 1 +NX_Q5TA31 235 26190 5.7 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 1 +NX_Q5TA45 600 67663 8.27 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 1 +NX_Q5TA50 214 24365 6.71 0 Cytosol;Endosome membrane;trans-Golgi network membrane;Cell membrane;Nucleus outer membrane NA PE1 1 +NX_Q5TA76 89 9146 8.81 0 NA NA PE1 1 +NX_Q5TA77 95 9812 8.57 0 NA NA PE1 1 +NX_Q5TA78 99 9980 8.64 0 NA NA PE1 1 +NX_Q5TA79 106 10846 8.32 0 NA NA PE1 1 +NX_Q5TA81 110 11224 8.56 0 NA NA PE1 1 +NX_Q5TA82 110 11180 8.54 0 NA NA PE1 1 +NX_Q5TA89 166 18226 9.52 0 Cytosol;Nucleoplasm;Nucleus;Nucleus speckle NA PE2 1 +NX_Q5TAA0 569 63361 5.29 0 NA NA PE1 1 +NX_Q5TAB7 128 13906 4.42 0 Nucleus Spondylocostal dysostosis 6, autosomal recessive PE1 6 +NX_Q5TAG4 1457 167689 4.75 0 Cytoplasm NA PE2 1 +NX_Q5TAH2 1124 129053 6.5 15 Membrane NA PE1 1 +NX_Q5TAP6 766 87188 6.7 0 Nucleolus NA PE1 13 +NX_Q5TAQ9 597 66852 5.21 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Giant axonal neuropathy 2, autosomal dominant PE1 1 +NX_Q5TAT6 717 69950 9.27 1 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 19 PE1 10 +NX_Q5TAX3 1644 185166 8.3 0 Cytosol;Cytoplasm;Cytoplasmic ribonucleoprotein granule;Nucleolus;Nucleus NA PE1 1 +NX_Q5TB30 811 92960 8.91 0 Nucleolus;Nucleus NA PE1 1 +NX_Q5TB80 1403 161943 5.36 0 Centriole;Cytosol;Spindle;Nucleus;Cell membrane NA PE1 6 +NX_Q5TBA9 3013 338875 5.66 0 Cytoplasm;Centrosome;Spindle pole NA PE1 13 +NX_Q5TBB1 312 35139 9.19 0 Nucleus Aicardi-Goutieres syndrome 2 PE1 13 +NX_Q5TBC7 163 17725 4.33 0 NA NA PE1 1 +NX_Q5TBE3 101 11254 9.26 0 NA NA PE1 9 +NX_Q5TBK1 243 28981 10.07 0 Cytosol;Nucleoplasm NA PE1 13 +NX_Q5TC04 95 10240 6.05 0 NA NA PE5 1 +NX_Q5TC12 328 36437 8.12 0 Mitochondrion NA PE1 1 +NX_Q5TC63 336 38554 9 0 NA NA PE1 13 +NX_Q5TC79 503 56055 6.3 0 Cytosol;Nucleolus;Nucleus NA PE1 1 +NX_Q5TC82 1133 125736 6.86 0 Cytosol;Cytoplasmic granule;P-body;Cell membrane NA PE1 1 +NX_Q5TC84 451 51252 5.81 0 Nucleoplasm;Golgi apparatus NA PE1 6 +NX_Q5TCH4 519 59246 9.21 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 1 +NX_Q5TCM9 118 11795 8.75 0 NA NA PE1 1 +NX_Q5TCQ9 1481 162949 8.26 0 Nucleus;Tight junction;Cell membrane;Cell junction NA PE1 1 +NX_Q5TCS8 1911 221413 4.96 0 Nucleoplasm;Cytoplasm;Nucleus;Nucleus membrane NA PE1 6 +NX_Q5TCX8 1036 113957 8.97 0 Cytosol;Cell membrane NA PE1 1 +NX_Q5TCY1 1321 142737 5.46 0 Cytosol;Nucleoplasm;Cytoplasm NA PE1 6 +NX_Q5TCZ1 1133 125289 9.01 0 Cytoplasm;Podosome NA PE1 10 +NX_Q5TD94 716 80733 4.38 0 Nucleus;Cilium;Cilium axoneme Ciliary dyskinesia, primary, 11 PE1 6 +NX_Q5TD97 284 32720 7.77 0 Nucleus NA PE1 6 +NX_Q5TDH0 399 44523 4.95 0 Cytosol;Nucleoplasm NA PE1 1 +NX_Q5TDP6 509 57278 5.96 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 6 +NX_Q5TEA3 1177 132287 6.11 0 Cytosol;Nucleolus NA PE1 20 +NX_Q5TEA6 688 77964 9.25 1 Membrane NA PE1 20 +NX_Q5TEC3 545 60461 6.88 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q5TEJ8 643 72049 5.77 0 Golgi apparatus NA PE1 1 +NX_Q5TEU4 345 38918 6.14 0 Mitochondrion inner membrane Mitochondrial complex I deficiency;Leigh syndrome PE1 20 +NX_Q5TEV5 83 9093 9.72 0 Secreted NA PE3 1 +NX_Q5TEZ4 76 8388 8.84 0 NA NA PE5 6 +NX_Q5TEZ5 329 38553 6.49 0 Nucleoplasm NA PE1 6 +NX_Q5TF21 947 103199 5.81 1 Cytosol;Nucleus;Membrane NA PE1 6 +NX_Q5TF39 518 56218 5.27 12 Cytoskeleton;Apical cell membrane NA PE1 6 +NX_Q5TF58 517 57328 4.86 0 Nucleoplasm;Cell membrane NA PE1 1 +NX_Q5TFE4 455 51845 5.94 0 NA NA PE1 6 +NX_Q5TFG8 222 24665 10.32 0 NA NA PE1 6 +NX_Q5TFQ8 398 43359 7.7 1 Membrane NA PE1 20 +NX_Q5TG30 622 68908 7.7 0 Nucleoplasm;Cytosol;Centrosome;Cell membrane NA PE2 20 +NX_Q5TG53 156 16212 10.6 0 NA NA PE5 1 +NX_Q5TG92 126 13826 10.19 0 NA NA PE2 1 +NX_Q5TGI0 409 46843 5.34 1 Nucleoplasm;Membrane NA PE1 6 +NX_Q5TGI4 173 19231 9.19 0 Cytoplasmic vesicle NA PE2 6 +NX_Q5TGJ6 251 27234 4.5 0 NA NA PE1 6 +NX_Q5TGL8 231 26560 4.94 0 Cell membrane NA PE1 6 +NX_Q5TGP6 573 65050 5.94 0 NA NA PE1 1 +NX_Q5TGS1 186 19968 9.74 0 Nucleus NA PE3 1 +NX_Q5TGU0 170 19129 8.48 5 Endoplasmic reticulum membrane NA PE1 6 +NX_Q5TGY1 634 67910 5.59 3 Endoplasmic reticulum;Membrane NA PE1 1 +NX_Q5TGY3 1603 168349 9.21 0 Nucleus Mental retardation, autosomal dominant 25 PE1 1 +NX_Q5TGZ0 78 8808 8.69 1 Mitochondrion;Mitochondrion inner membrane NA PE1 1 +NX_Q5TH69 2177 240652 5.54 1 Cytoplasm;Secretory vesicle;Secretory vesicle membrane NA PE1 6 +NX_Q5TH74 334 36786 9.79 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q5THJ4 4388 491916 6.15 0 Cytoplasmic vesicle;Cytosol;Nucleoplasm NA PE1 1 +NX_Q5THK1 2151 237300 5.93 0 Nucleoplasm NA PE1 22 +NX_Q5THR3 1501 172930 8.67 0 Nucleoplasm;Nucleus NA PE1 22 +NX_Q5TI25 921 105853 4.5 0 Cytoplasm NA PE2 1 +NX_Q5TIA1 1274 141161 6.24 0 Nucleoplasm;Cell membrane NA PE2 22 +NX_Q5TID7 509 60103 5.7 0 Nucleus speckle;Cytoskeleton;Flagellum NA PE1 1 +NX_Q5TIE3 1220 133802 8.45 0 Mitochondrion;Cytosol;Cell membrane;Secreted NA PE1 1 +NX_Q5TKA1 542 61946 9.17 0 Nucleoplasm NA PE1 1 +NX_Q5TYM5 149 16619 5.54 0 Mitochondrion;Cytoplasm NA PE1 1 +NX_Q5TYW1 1059 122274 8.63 0 Nucleus NA PE1 9 +NX_Q5TYW2 823 94048 7.97 0 Cell membrane NA PE2 9 +NX_Q5TYX0 476 54886 8.53 0 NA NA PE2 1 +NX_Q5TZ20 316 34890 8.85 7 Cell membrane NA PE2 1 +NX_Q5TZA2 2017 228523 5.45 0 Centriole;Centrosome;Cell membrane;Cilium basal body NA PE1 1 +NX_Q5TZF3 266 29977 4.62 0 NA NA PE1 1 +NX_Q5TZJ5 1347 148561 9.07 1 Membrane NA PE3 9 +NX_Q5TZK3 123 14773 10.66 0 NA NA PE1 9 +NX_Q5U3C3 297 33508 8.41 7 Cytoplasmic vesicle;Cell junction;Membrane NA PE1 X +NX_Q5U4N7 250 28211 12.03 0 Mitochondrion NA PE2 20 +NX_Q5U4P2 390 41128 8.94 1 Membrane NA PE1 16 +NX_Q5U5Q3 659 69366 4.93 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 18 +NX_Q5U5R9 776 88122 8.42 0 Nucleoplasm NA PE1 10 +NX_Q5U5X0 104 11955 9.67 0 Mitochondrion matrix Mitochondrial complex III deficiency, nuclear 8 PE1 5 +NX_Q5U5X8 452 46792 9.2 0 Mitochondrion;Nucleoplasm;Focal adhesion;Cell membrane NA PE1 12 +NX_Q5U5Z8 902 104194 9.14 0 Centriole;Cytosol;Cilium basal body NA PE1 11 +NX_Q5U623 682 75764 7.96 0 Nucleus NA PE1 16 +NX_Q5U649 245 27626 7.73 0 Cytosol;Nucleus NA PE1 12 +NX_Q5U651 963 103457 8.17 0 Perinuclear region;Golgi stack NA PE1 19 +NX_Q5UAW9 335 36623 9.27 7 Cilium membrane;Nucleolus;Cell junction;Cell membrane NA PE1 1 +NX_Q5UCC4 262 27347 5.78 1 Secreted;Membrane NA PE1 19 +NX_Q5UE93 754 84258 7.58 0 Cytoplasm;Cell membrane NA PE1 17 +NX_Q5UIP0 2472 274466 5.39 0 Spindle;Nucleus;Chromosome;Cell membrane;Telomere NA PE1 2 +NX_Q5VIR6 699 79653 5.74 0 Cytosol;Endosome membrane;Recycling endosome;trans-Golgi network membrane;Golgi apparatus Pontocerebellar hypoplasia 2E PE1 17 +NX_Q5VIY5 522 60573 9.1 0 Nucleus NA PE1 19 +NX_Q5VSD8 79 8201 9.82 0 NA NA PE4 9 +NX_Q5VSG8 457 51317 6.47 1 Golgi apparatus membrane;Golgi apparatus NA PE1 1 +NX_Q5VSL9 837 95576 5.92 0 Cytosol;Cytoplasm NA PE1 1 +NX_Q5VSP4 162 17918 4.93 0 Secreted NA PE5 9 +NX_Q5VSR9 72 8263 5.79 0 NA NA PE3 X +NX_Q5VST6 288 32215 5.89 0 Postsynaptic density;Recycling endosome membrane;Cell membrane;Dendritic spine NA PE1 9 +NX_Q5VST9 7968 868484 5.69 0 Cytosol;Cell membrane;Nucleus;Sarcolemma;M line;Z line NA PE1 1 +NX_Q5VSY0 366 42078 8.89 0 Cytosol;Golgi apparatus;Microtubule organizing center NA PE1 9 +NX_Q5VT03 806 86276 6.98 0 NA NA PE3 10 +NX_Q5VT06 3117 350930 5.95 0 Centriole;Spindle;Nucleus;Centrosome;Cilium basal body NA PE1 1 +NX_Q5VT25 1732 197307 6.16 0 Cytoplasm;Cytoskeleton;Lamellipodium NA PE1 1 +NX_Q5VT28 67 7388 7.82 0 NA NA PE3 9 +NX_Q5VT33 79 9515 10.54 0 NA NA PE4 X +NX_Q5VT40 261 29835 9.46 0 Cytoplasmic vesicle;Golgi apparatus NA PE2 1 +NX_Q5VT52 1461 156020 6.97 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 1 +NX_Q5VT66 337 37499 9.12 1 Mitochondrion;Membrane;Mitochondrion outer membrane NA PE1 1 +NX_Q5VT79 327 36879 5.56 0 NA NA PE1 10 +NX_Q5VT97 1194 133230 8.83 0 Nucleolus;Golgi apparatus NA PE1 1 +NX_Q5VT98 475 54784 8.45 0 NA NA PE3 1 +NX_Q5VT99 294 32082 4.82 1 Cell membrane NA PE1 1 +NX_Q5VTA0 474 54769 8.41 0 NA NA PE2 1 +NX_Q5VTB9 566 62765 5.7 0 Cytoplasm NA PE1 1 +NX_Q5VTD9 330 37492 9.25 0 Nucleus Bleeding disorder, platelet-type 17 PE1 9 +NX_Q5VTE0 462 50185 9.15 0 Cytoplasm NA PE5 9 +NX_Q5VTE6 544 62339 8 0 Nucleoplasm;Mitochondrion NA PE1 1 +NX_Q5VTH2 177 19293 10.09 0 Apical cell membrane;Cilium;Cilium basal body NA PE1 1 +NX_Q5VTH9 848 94573 5.53 0 NA NA PE1 1 +NX_Q5VTJ3 777 84479 7.93 1 Nucleus speckle;Membrane NA PE1 1 +NX_Q5VTL7 733 78236 5.46 0 Nucleoplasm;Cytoskeleton;Secreted NA PE1 1 +NX_Q5VTL8 546 64468 10.54 0 Nucleus NA PE1 1 +NX_Q5VTM2 703 77972 8.14 0 NA NA PE2 10 +NX_Q5VTQ0 682 76956 7.16 0 Endoplasmic reticulum NA PE1 9 +NX_Q5VTR2 975 113662 5.73 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q5VTT2 229 26445 6.75 1 Cytoplasm;Cell membrane NA PE1 9 +NX_Q5VTT5 1437 162189 5.89 0 Cytoplasmic vesicle;M line NA PE1 1 +NX_Q5VTU8 51 5807 10.15 0 Mitochondrion;Mitochondrion inner membrane NA PE3 13 +NX_Q5VTY9 493 57313 6.9 10 Endoplasmic reticulum membrane;Golgi apparatus NA PE1 1 +NX_Q5VU36 1347 148687 9 1 Membrane NA PE3 9 +NX_Q5VU43 2346 265103 5.35 0 Cytoskeleton;Centrosome;Golgi apparatus NA PE1 1 +NX_Q5VU57 503 58230 8.66 0 Cytosol;Centriole;Golgi apparatus;Cilium basal body NA PE2 1 +NX_Q5VU65 1888 210605 7.15 1 Nucleus;Membrane NA PE1 1 +NX_Q5VU69 101 12131 9.72 0 NA NA PE1 1 +NX_Q5VU92 463 51201 8.84 0 NA NA PE1 X +NX_Q5VU97 1274 142290 5.97 1 Nucleolus;Nucleus;Membrane NA PE1 1 +NX_Q5VUA4 2279 251112 6.78 0 Nucleoplasm;Cytosol;Nucleus NA PE1 6 +NX_Q5VUB5 890 97854 6.12 1 Nucleoplasm;Cell membrane;Membrane NA PE1 10 +NX_Q5VUD6 431 48583 9 1 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nucleus NA PE1 9 +NX_Q5VUE5 145 15483 9.03 0 Cytoplasmic vesicle NA PE1 1 +NX_Q5VUG0 894 100563 6.14 0 Nucleus speckle;Nucleus NA PE1 10 +NX_Q5VUJ5 663 73211 6.25 0 NA NA PE5 10 +NX_Q5VUJ6 765 84588 6.11 0 Nucleolus;Cell membrane NA PE1 X +NX_Q5VUJ9 269 29714 8.92 0 Cytosol;Flagellum axoneme;Cell membrane NA PE1 1 +NX_Q5VUM1 108 12213 9.43 0 Mitochondrion matrix;Mitochondrion;Nucleus NA PE1 6 +NX_Q5VUR7 823 94108 8.12 0 NA NA PE4 9 +NX_Q5VUY0 407 46155 7.54 0 NA NA PE2 1 +NX_Q5VUY2 407 46082 8.54 1 Membrane NA PE3 1 +NX_Q5VV11 94 10769 11.91 0 NA NA PE5 9 +NX_Q5VV16 416 45780 9.58 0 Nucleus NA PE3 9 +NX_Q5VV17 481 51063 5.68 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 10 +NX_Q5VV41 709 80105 6.9 0 Cytoplasm NA PE1 1 +NX_Q5VV42 579 65111 7.2 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane Diabetes mellitus, non-insulin-dependent PE1 6 +NX_Q5VV43 1072 117763 5.34 1 Cytoplasmic vesicle;Early endosome membrane;Cell membrane Dyslexia 2 PE1 6 +NX_Q5VV52 315 35810 7.9 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA PE1 1 +NX_Q5VV63 1379 152639 7.31 1 Mitochondrion;Nucleus;Membrane NA PE1 10 +NX_Q5VV67 1664 177544 6.11 0 Nucleoplasm;Nucleus NA PE1 10 +NX_Q5VVB8 128 14657 5.82 3 Membrane NA PE4 6 +NX_Q5VVC0 180 20418 9.03 0 NA NA PE2 1 +NX_Q5VVH5 260 29106 9.07 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 6 +NX_Q5VVJ2 828 95032 5.4 0 Nucleoplasm;Nucleus;Cell membrane NA PE1 1 +NX_Q5VVM6 783 91333 5.57 0 NA NA PE2 1 +NX_Q5VVP1 1343 147818 8.99 1 Membrane NA PE3 9 +NX_Q5VVQ6 348 38322 5.77 0 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA PE1 1 +NX_Q5VVS0 124 13926 6.89 0 NA NA PE5 1 +NX_Q5VVW2 1013 112852 7.57 0 Cytoplasmic vesicle NA PE1 9 +NX_Q5VVX9 321 37741 5.06 0 NA NA PE1 1 +NX_Q5VVY1 283 32400 6.51 0 Nucleus NA PE1 1 +NX_Q5VW00 463 50803 9.36 0 NA NA PE1 X +NX_Q5VW22 663 73127 6.41 0 NA NA PE2 10 +NX_Q5VW32 411 46476 7.55 0 Cytosol;Nucleoplasm;Golgi apparatus;Membrane NA PE1 1 +NX_Q5VW36 1801 200072 6.17 3 Mitochondrion;Focal adhesion;Membrane NA PE1 9 +NX_Q5VW38 600 66990 6.77 7 Nucleoplasm;trans-Golgi network membrane;Golgi apparatus NA PE1 9 +NX_Q5VWC8 232 27520 8.76 6 Endoplasmic reticulum membrane NA PE1 9 +NX_Q5VWG9 929 103582 9.13 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE1 10 +NX_Q5VWI1 586 65660 9.84 0 NA NA PE2 10 +NX_Q5VWJ9 437 49677 5.21 0 Cytosol;Nucleolus;Nucleus NA PE1 9 +NX_Q5VWK0 638 72239 4.84 0 Cytoplasm NA PE2 1 +NX_Q5VWK5 629 71722 5.32 1 Cell membrane Inflammatory bowel disease 17 PE1 1 +NX_Q5VWM3 479 55334 8.31 0 NA NA PE3 1 +NX_Q5VWM4 474 53655 5.99 0 NA NA PE2 1 +NX_Q5VWM5 478 55420 8.82 0 NA NA PE2 1 +NX_Q5VWM6 474 54914 8.85 0 NA NA PE5 1 +NX_Q5VWN6 2430 268843 5.61 0 Cytosol;Nucleus NA PE1 10 +NX_Q5VWP2 391 44944 5.45 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q5VWP3 458 50429 5.96 0 Nucleoplasm;PML body;Nucleus;Nucleus envelope;Sarcolemma NA PE1 6 +NX_Q5VWQ0 802 90072 8.85 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 1 +NX_Q5VWQ8 1189 131625 8.92 0 Cytoplasm;Dendrite;Cell membrane;Membrane NA PE1 9 +NX_Q5VWT5 728 82070 8.58 0 Membrane raft NA PE1 1 +NX_Q5VWW1 255 26719 6.29 0 Secreted NA PE1 10 +NX_Q5VWX1 349 38927 5.94 0 Nucleus NA PE1 6 +NX_Q5VWZ2 237 26316 7.71 0 Cytosol NA PE1 1 +NX_Q5VX52 459 52946 8.93 0 NA NA PE2 1 +NX_Q5VX71 490 53778 4.78 1 Cytoplasmic vesicle;Membrane;Secreted NA PE2 1 +NX_Q5VXD3 122 13570 4.98 0 Mitochondrion NA PE1 1 +NX_Q5VXH4 476 54852 8.54 0 NA NA PE2 1 +NX_Q5VXH5 474 53627 5.99 0 NA NA PE2 1 +NX_Q5VXI9 398 45534 6.35 0 Secreted Ichthyosis, congenital, autosomal recessive 8 PE2 10 +NX_Q5VXJ0 399 45563 8.39 0 Secreted NA PE2 10 +NX_Q5VXM1 449 48752 5.81 0 Secreted NA PE2 1 +NX_Q5VXT5 272 30156 5.4 4 Nucleoplasm;Membrane NA PE1 1 +NX_Q5VXU1 208 23831 4.94 4 Cytosol;Cell membrane NA PE2 6 +NX_Q5VXU3 224 25616 4.51 0 Cytoplasmic vesicle;Nucleus speckle;Cytosol;Cell membrane NA PE1 X +NX_Q5VXU9 1444 165202 5.1 0 Cytosol;Cytoplasmic vesicle;Chromosome NA PE1 9 +NX_Q5VY09 327 33704 4.91 0 Cytoplasm;Nucleolus;Nucleus NA PE1 1 +NX_Q5VY43 1037 110666 6.4 1 Nucleoplasm;Cell junction;Cell membrane;Centrosome NA PE1 1 +NX_Q5VY80 246 27509 5.96 0 Cell membrane;Endoplasmic reticulum NA PE1 6 +NX_Q5VYJ5 2156 241008 5.04 1 Cytoplasmic vesicle membrane;Golgi apparatus NA PE1 10 +NX_Q5VYK3 1845 204291 6.74 0 Endoplasmic reticulum-Golgi intermediate compartment;Endosome;Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleus;Multivesicular body;Centrosome NA PE1 9 +NX_Q5VYM1 1079 117724 7 0 Mitochondrion NA PE1 9 +NX_Q5VYP0 1347 148706 8.99 1 Membrane NA PE2 9 +NX_Q5VYS4 303 34190 6.06 0 Cytoplasm NA PE1 13 +NX_Q5VYS8 1495 171229 6.4 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 9 +NX_Q5VYV0 432 45581 9.55 0 Nucleus NA PE4 9 +NX_Q5VYV7 408 45552 9.5 0 Cytosol NA PE1 20 +NX_Q5VYX0 342 37847 6.06 0 Secreted NA PE1 10 +NX_Q5VYY1 191 21849 9.07 0 Nucleus NA PE1 10 +NX_Q5VYY2 423 48233 6.64 0 Secreted NA PE2 10 +NX_Q5VZ03 156 17614 6.9 0 Cytosol NA PE2 9 +NX_Q5VZ18 495 53950 9.23 0 NA NA PE1 1 +NX_Q5VZ19 366 40941 8.1 0 Cytoplasmic vesicle NA PE1 1 +NX_Q5VZ46 1190 126604 9.1 0 Cytoplasmic vesicle;Nucleus membrane NA PE1 1 +NX_Q5VZ52 161 18731 5.58 0 NA NA PE1 9 +NX_Q5VZ66 844 98529 5.53 0 Golgi apparatus NA PE1 10 +NX_Q5VZ72 239 27768 8.62 1 Cell membrane NA PE1 9 +NX_Q5VZ89 1909 212711 6.39 0 Cytosol;Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Cell membrane;Golgi apparatus NA PE1 9 +NX_Q5VZB9 504 53125 9.15 0 Cytoplasmic vesicle;Nucleus NA PE1 9 +NX_Q5VZE5 725 83639 6.6 0 Cytoplasmic vesicle;Cytoplasm NA PE1 9 +NX_Q5VZF2 373 40518 8.77 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 13 +NX_Q5VZI3 342 37569 5.19 2 Cytosol;Cell membrane;Membrane NA PE1 9 +NX_Q5VZK9 1371 151557 8.02 0 Cytosol;Lamellipodium;Cytoskeleton;Cell membrane;Cytoplasm NA PE1 6 +NX_Q5VZL5 1548 172788 6.46 0 Cytosol;Nucleoplasm NA PE1 1 +NX_Q5VZM2 374 43250 5.85 0 Cytoplasm;Lysosome NA PE1 X +NX_Q5VZP5 1158 130176 5.1 0 Sarcomere;Nucleoplasm NA PE1 1 +NX_Q5VZQ5 186 21545 9.79 0 NA NA PE1 10 +NX_Q5VZR2 741 79011 8.51 0 NA NA PE3 9 +NX_Q5VZR4 150 16372 7.77 3 Membrane NA PE2 9 +NX_Q5VZT2 155 17689 10.01 0 NA NA PE2 10 +NX_Q5VZV1 264 29565 4.85 0 Nucleus NA PE1 13 +NX_Q5VZY2 271 30395 8.5 6 Nucleolus;Nucleus;Membrane NA PE1 10 +NX_Q5W041 872 96405 5.89 0 NA NA PE1 10 +NX_Q5W064 366 42388 6.11 0 NA NA PE2 10 +NX_Q5W0A0 696 81686 4.73 0 NA NA PE1 13 +NX_Q5W0B1 726 81116 5.53 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 13 +NX_Q5W0B7 351 39663 9.36 6 Membrane NA PE1 10 +NX_Q5W0N0 161 18115 8.62 1 Membrane NA PE2 9 +NX_Q5W0Q7 1092 120440 5.8 0 Cajal body NA PE1 13 +NX_Q5W0U4 402 44381 5.99 0 Cytosol;Cytoplasm;Membrane;Nucleoplasm NA PE1 9 +NX_Q5W0V3 765 86558 5.13 0 Cytosol;Nucleus speckle NA PE1 10 +NX_Q5W0Z9 365 42278 7.87 4 Cytoplasmic vesicle;Mitochondrion;Perinuclear region;Golgi apparatus membrane;Cell membrane NA PE1 13 +NX_Q5W111 196 21666 6.22 0 Cytoplasmic vesicle NA PE1 13 +NX_Q5W150 140 15095 9.75 0 NA NA PE1 20 +NX_Q5W186 159 18135 8.18 0 Secreted NA PE2 20 +NX_Q5W188 147 17316 4.97 0 Secreted NA PE5 20 +NX_Q5W5W9 228 24956 5.35 0 Endoplasmic reticulum;Golgi apparatus;Secretory vesicle lumen NA PE2 2 +NX_Q5W5X9 447 50009 8.6 0 Cytosol;Cell membrane NA PE1 15 +NX_Q5XG85 94 10725 11.96 0 NA NA PE5 9 +NX_Q5XG87 772 82360 9.56 0 Nucleoplasm;Cytoplasm;Nucleus membrane;Golgi apparatus NA PE1 5 +NX_Q5XG92 561 63529 9.37 0 Cytosol;Secreted NA PE1 16 +NX_Q5XG99 296 32066 5.99 1 Cytosol;Cytoskeleton;Membrane NA PE1 15 +NX_Q5XKE5 535 57836 6.75 0 NA NA PE1 12 +NX_Q5XKK7 198 21103 8.54 0 Nucleoplasm;Golgi apparatus NA PE1 15 +NX_Q5XKL5 378 42793 5.68 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q5XKP0 118 13087 9.44 1 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA PE1 19 +NX_Q5XKR4 325 34159 9.54 0 Nucleus NA PE1 5 +NX_Q5XKR9 115 13109 9.64 0 NA NA PE2 X +NX_Q5XLA6 110 11868 5.34 0 Cytoplasm NA PE1 11 +NX_Q5XPI4 1314 148515 6.31 0 Cytosol;Cytoplasm NA PE1 3 +NX_Q5XUX0 539 60664 6.56 0 Nucleoplasm;Cytosol;Golgi apparatus Mental retardation, autosomal recessive 45 PE1 16 +NX_Q5XUX1 488 54115 6.02 0 Cytosol NA PE1 19 +NX_Q5XX13 1052 119846 9.47 0 Nucleoplasm NA PE1 17 +NX_Q5XXA6 986 114078 8.76 8 Cytoplasm;Cell membrane NA PE1 11 +NX_Q5Y7A7 266 30008 6.51 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA PE1 6 +NX_Q5YKI7 109 12309 5.3 0 Cytoplasm;Golgi apparatus;Membrane NA PE5 6 +NX_Q5ZPR3 534 57235 4.77 1 Cytoplasmic vesicle;Membrane NA PE1 15 +NX_Q60I27 953 107748 5.75 0 Cytoplasm NA PE1 3 +NX_Q629K1 86 9683 9.36 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 8 +NX_Q63HK3 967 110941 8.68 0 Nucleoplasm;Nucleolus;Nucleus;Golgi apparatus NA PE1 16 +NX_Q63HK5 1081 118566 6.83 0 Mitochondrion;Nucleoplasm;Nucleus;Growth cone NA PE1 19 +NX_Q63HM1 303 33992 5.57 0 Cytosol;Mitochondrion;Nucleus NA PE1 17 +NX_Q63HM2 1172 132702 5.88 15 Cytosol;Cytoplasm;Nucleus;Membrane NA PE1 14 +NX_Q63HM9 321 36313 5.87 0 Cytoplasm;Golgi apparatus NA PE1 5 +NX_Q63HN1 556 61860 7.14 0 NA NA PE5 9 +NX_Q63HN8 5207 591407 6.05 0 Cytosol Moyamoya disease 2 PE1 17 +NX_Q63HQ0 302 34280 4.79 0 trans-Golgi network;Late endosome;Golgi apparatus;Cell membrane;Early endosome NA PE1 4 +NX_Q63HQ2 1017 111271 7.24 0 Synapse;Extracellular matrix NA PE1 5 +NX_Q63HR2 1409 152580 8.67 0 Focal adhesion;Cell membrane NA PE1 12 +NX_Q63ZE4 541 60257 8.89 11 Membrane NA PE2 11 +NX_Q63ZY3 851 91174 5.44 0 Mitochondrion;Cytoplasm Nephrotic syndrome 16;Palmoplantar keratoderma and woolly hair PE1 19 +NX_Q63ZY6 315 34347 9.01 0 NA NA PE5 7 +NX_Q641Q2 1341 147184 4.69 0 Early endosome membrane;Cell membrane NA PE1 10 +NX_Q641Q3 311 34398 8.72 0 Secreted NA PE1 17 +NX_Q643R3 524 57219 9.17 2 Endoplasmic reticulum membrane NA PE1 15 +NX_Q64ET8 278 30490 7.6 0 Nucleus NA PE2 4 +NX_Q64LD2 544 60161 9.21 0 Nucleoplasm;Nucleus NA PE1 14 +NX_Q658K8 133 14137 5.94 0 NA NA PE5 13 +NX_Q658L1 398 45933 9.12 0 Nucleoplasm;Golgi apparatus NA PE1 15 +NX_Q658N2 575 65694 9.34 1 Nucleoplasm;Golgi apparatus;Membrane NA PE1 17 +NX_Q658P3 488 54601 8.86 6 Cytosol;Endosome membrane;Nucleolus Anemia, hypochromic microcytic, with iron overload 2 PE1 2 +NX_Q658T7 463 50084 10.2 0 NA NA PE5 8 +NX_Q658Y4 838 93909 5.95 0 Cytoplasmic vesicle;Nucleoplasm;Cytoskeleton;trans-Golgi network NA PE1 8 +NX_Q659A1 982 110011 6.69 0 Nucleoplasm;Nucleus NA PE1 15 +NX_Q659C4 914 105322 7.33 0 Cytosol NA PE1 4 +NX_Q66GS9 1140 133490 5.87 0 Centriole;Focal adhesion Microcephaly 8, primary, autosomal recessive PE1 4 +NX_Q66K14 1250 140525 5.14 1 Nucleolus;Nucleus;Cell membrane;Membrane NA PE1 5 +NX_Q66K41 424 44235 10.42 0 Nucleus NA PE1 17 +NX_Q66K64 600 66463 6.14 0 Cytoplasmic vesicle;Mitochondrion NA PE1 19 +NX_Q66K66 360 39475 9.97 7 Cytoplasmic vesicle;Cell membrane;Membrane NA PE1 2 +NX_Q66K74 1059 112211 6.93 0 Cytosol;Spindle;Nucleus;Cytoskeleton NA PE1 19 +NX_Q66K79 652 73655 8.22 0 Extracellular matrix NA PE1 4 +NX_Q66K80 236 24494 10.2 0 NA NA PE5 1 +NX_Q66K89 784 83496 5.91 0 Nucleoplasm;Cytoplasm NA PE1 16 +NX_Q66LE6 453 52042 5.96 0 Cytoplasm NA PE1 10 +NX_Q66PJ3 421 44915 10.93 0 Nucleus speckle;Nucleolus NA PE1 12 +NX_Q674R7 924 101019 8.62 6 Autophagosome membrane NA PE1 7 +NX_Q674X7 775 86351 6.57 0 Nucleus speckle;Cytosol;Cytoplasm;Nucleoplasm;Desmosome;Nucleus;Cytoskeleton NA PE1 1 +NX_Q676U5 607 68265 6.2 0 Cytosol;Cytoplasm;Preautophagosomal structure membrane Inflammatory bowel disease 10 PE1 2 +NX_Q67FW5 361 40713 6.97 0 Nucleolus NA PE1 17 +NX_Q684P5 730 80056 6.22 0 Cytosol;Cytoplasm;Perinuclear region;Nucleus membrane NA PE1 17 +NX_Q685J3 4493 451741 4.03 1 Cell membrane;Secreted NA PE1 7 +NX_Q687X5 459 51981 9.39 6 Early endosome membrane;Golgi apparatus membrane;Golgi apparatus;Cell membrane NA PE1 7 +NX_Q68BL7 652 73054 7.89 0 Cytosol;Nucleoplasm;Secreted NA PE1 9 +NX_Q68BL8 750 83999 5.07 0 Cytosol;Secreted NA PE1 1 +NX_Q68CJ6 796 91132 8.85 0 Nucleus speckle NA PE2 8 +NX_Q68CJ9 461 49077 4.99 1 Endoplasmic reticulum membrane;Nucleus NA PE1 19 +NX_Q68CK6 577 64271 8.5 0 Mitochondrion matrix NA PE1 16 +NX_Q68CL5 300 33318 6.25 0 Cytoskeleton;Nucleolus NA PE1 18 +NX_Q68CP4 663 73293 8.69 11 Lysosome membrane Mucopolysaccharidosis 3C;Retinitis pigmentosa 73 PE1 8 +NX_Q68CP9 1835 197391 7.08 0 Nucleoplasm;Nucleus;Cell membrane Coffin-Siris syndrome 6 PE1 12 +NX_Q68CQ1 1323 145647 6.51 2 Membrane NA PE1 1 +NX_Q68CQ4 756 87055 5.6 0 Nucleoplasm;Nucleolus;Nucleus;Golgi apparatus NA PE1 1 +NX_Q68CQ7 371 41935 9.37 1 Mitochondrion;Membrane NA PE1 3 +NX_Q68CR1 1132 128567 6.87 1 Nucleus;Membrane NA PE1 4 +NX_Q68CR7 880 97778 6.01 2 Membrane NA PE1 4 +NX_Q68CZ1 1315 151201 5.21 0 Cytosol;Cytoplasm;Cell membrane;Cilium axoneme;Centrosome;Tight junction;Cilium basal body Meckel syndrome 5;COACH syndrome;Joubert syndrome 7 PE1 16 +NX_Q68CZ2 1445 155266 6.34 0 Focal adhesion NA PE1 7 +NX_Q68CZ6 603 69650 5.4 0 Mitochondrion;Cytoskeleton;Spindle;Centrosome NA PE1 4 +NX_Q68D06 897 102045 6.55 0 Cytoplasm;Cytoskeleton NA PE1 17 +NX_Q68D10 685 75599 9.79 0 Nucleolus;Nucleus NA PE1 11 +NX_Q68D20 193 20909 5.15 0 NA NA PE1 7 +NX_Q68D42 235 25806 5.23 2 Nucleoplasm;Cytoplasmic vesicle;Endoplasmic reticulum;Membrane NA PE2 9 +NX_Q68D51 928 106865 8.75 0 Nucleus NA PE1 1 +NX_Q68D85 454 50827 5.39 1 Cell membrane NA PE1 11 +NX_Q68D86 513 60448 5.71 0 Cytosol;Mitochondrion NA PE1 18 +NX_Q68D91 279 31372 6.41 0 Nucleus NA PE1 5 +NX_Q68DA7 1419 157578 8.67 0 Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus;Adherens junction NA PE1 15 +NX_Q68DC2 871 92219 6.91 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cilium Nephronophthisis 16 PE1 9 +NX_Q68DD2 849 95082 5.28 0 Cytosol;Cytoplasmic vesicle;Lysosome membrane;Nucleus NA PE1 15 +NX_Q68DE3 2245 241681 7.41 0 Nucleoplasm;Nucleolus;Nucleus;Centrosome NA PE1 3 +NX_Q68DH5 695 81172 7.25 9 Nucleoplasm;Cytosol;Membrane NA PE1 5 +NX_Q68DI1 518 59613 8.68 0 Cytosol;Nucleus NA PE1 19 +NX_Q68DK2 2539 284576 5.97 0 Centrosome;Midbody Spastic paraplegia 15, autosomal recessive PE1 14 +NX_Q68DK7 614 67128 9.1 0 Nucleoplasm;Nucleus NA PE1 17 +NX_Q68DL7 685 77230 9.83 0 Mitochondrion NA PE1 18 +NX_Q68DN1 1984 224321 10.09 0 Nucleus NA PE1 2 +NX_Q68DQ2 2970 330633 5.1 0 Cytosol;Nucleoplasm NA PE1 3 +NX_Q68DU8 428 49138 8.4 0 Nucleus speckle;Postsynaptic cell membrane;Presynaptic cell membrane NA PE1 5 +NX_Q68DV7 783 85722 8.1 1 Endoplasmic reticulum membrane;Nucleus envelope;Cell membrane Sessile serrated polyposis cancer syndrome PE1 17 +NX_Q68DX3 1309 144282 6.29 0 Cytoplasm;Basolateral cell membrane;Tight junction NA PE1 10 +NX_Q68DY1 528 60893 9.29 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Nucleus membrane NA PE2 19 +NX_Q68DY9 489 55367 7.78 0 Cytosol;Nucleus NA PE1 19 +NX_Q68E01 1043 118070 5.53 0 Cytoplasm;Nucleolus;Nucleus NA PE1 1 +NX_Q68EA5 555 64428 9.06 0 Nucleolus;Nucleus NA PE1 19 +NX_Q68EM7 881 95437 7.22 0 Cytosol;Cytoplasm;Cell membrane;Nucleus;Membrane;Tight junction NA PE1 16 +NX_Q68EN5 471 53446 9.27 0 Nucleoplasm;Cytoplasmic vesicle NA PE2 16 +NX_Q68G74 356 39301 8.61 0 Cytosol;Nucleolus;Nucleus NA PE1 1 +NX_Q68G75 181 20326 8.74 1 Cytosol;Nucleolus;Membrane NA PE1 1 +NX_Q68J44 220 25336 5.68 0 Cytoplasm NA PE1 10 +NX_Q69383 105 11828 10.22 0 Cytoplasm;Nucleolus NA PE1 7 +NX_Q69384 699 79218 9.14 1 Virion;Cell membrane NA PE1 7 +NX_Q693B1 232 25887 6.2 0 Nucleoplasm NA PE1 17 +NX_Q695T7 634 71110 4.92 12 Nucleolus;Apical cell membrane;Cell membrane Hartnup disorder;Hyperglycinuria;Iminoglycinuria PE1 5 +NX_Q69YG0 159 16991 8.97 4 Nucleoplasm;Nucleolus;Membrane NA PE1 3 +NX_Q69YH5 1023 112676 8.71 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q69YI7 327 35164 6.73 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA PE1 9 +NX_Q69YL0 99 10891 12 0 NA NA PE1 3 +NX_Q69YN2 538 60619 6.87 0 Nucleoplasm;Golgi apparatus Spinocerebellar ataxia, autosomal recessive, 17 PE1 10 +NX_Q69YN4 1812 202025 4.9 0 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA PE1 8 +NX_Q69YQ0 1117 124602 5.52 0 Spindle;Gap junction;Cytoskeleton Facial clefting, oblique, 1;Opitz GBBB syndrome 2 PE1 22 +NX_Q69YU3 496 52636 9.5 0 Cytosol NA PE1 1 +NX_Q69YU5 71 8023 9.21 0 Mitochondrion;Centrosome;Cell membrane;Secreted NA PE1 12 +NX_Q69YW2 141 15007 6.7 2 Cytosol;Cell membrane;Membrane NA PE1 1 +NX_Q69YZ2 307 32750 11.44 2 Membrane NA PE1 1 +NX_Q6A162 431 48139 4.35 0 NA NA PE1 17 +NX_Q6A163 491 55651 5.19 0 NA NA PE1 17 +NX_Q6A1A2 396 44765 8.61 0 Cytoplasm;Membrane NA PE5 16 +NX_Q6A555 127 14575 9.56 0 Cytoplasm;Golgi apparatus NA PE1 9 +NX_Q6AHZ1 1483 166782 9.38 0 Nucleus NA PE1 10 +NX_Q6AI08 1181 128781 6.64 0 Mitochondrion NA PE1 17 +NX_Q6AI12 368 41088 4.88 0 Cytosol;Golgi apparatus NA PE1 17 +NX_Q6AI14 798 89814 8.76 10 Nucleoplasm;Apical cell membrane;Basolateral cell membrane;Cytoplasmic granule membrane;Cell membrane NA PE2 2 +NX_Q6AI39 1079 115084 6.38 0 Nucleoplasm NA PE1 6 +NX_Q6AW86 544 60602 9.78 0 Cytosol;Nucleolus;Nucleus NA PE1 19 +NX_Q6AWC2 1192 133891 5.4 0 Cytoskeleton NA PE1 4 +NX_Q6AWC8 147 16804 9.84 0 NA NA PE5 11 +NX_Q6AZW8 331 38270 9.46 0 Cytosol;Nucleolus;Nucleus NA PE1 3 +NX_Q6AZY7 606 65137 6.08 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum NA PE1 8 +NX_Q6AZZ1 485 56259 6.07 0 Cytosol;Perinuclear region;Nucleus NA PE1 11 +NX_Q6B0B8 471 52027 7.12 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE2 11 +NX_Q6B0I6 523 58603 9.28 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q6B0K9 141 15618 6.12 0 NA NA PE1 16 +NX_Q6B8I1 188 20658 7.08 0 Cytoplasm NA PE1 10 +NX_Q6B9Z1 124 13885 6.06 0 Cytosol;Secreted NA PE2 19 +NX_Q6BAA4 426 46904 9.16 0 Cytosol;Cytoplasm;Endoplasmic reticulum NA PE1 1 +NX_Q6BCY4 276 31458 8.49 0 Nucleoplasm;Golgi apparatus NA PE1 11 +NX_Q6BDI9 236 26571 6.89 0 Early endosome membrane NA PE1 12 +NX_Q6BDS2 1440 159485 5.75 0 Cytosol;Cytoplasm;Nucleus membrane;Nucleoplasm NA PE1 6 +NX_Q6BEB4 398 41964 9.43 0 Nucleolus;Nucleus NA PE1 2 +NX_Q6DCA0 310 34499 9.18 0 Cytosol;Nucleus NA PE1 2 +NX_Q6DD87 382 40428 8.25 0 Mitochondrion;Nucleolus;Nucleus NA PE1 19 +NX_Q6DD88 541 60542 5.43 2 Endoplasmic reticulum membrane;Endoplasmic reticulum Neuropathy, hereditary sensory, 1F PE1 11 +NX_Q6DHV5 1058 122955 6.68 0 Nucleolus NA PE1 10 +NX_Q6DHV7 355 40264 5.89 0 Cytoskeleton NA PE1 15 +NX_Q6DHY5 549 62231 9.2 0 Cell membrane NA PE1 17 +NX_Q6DJT9 500 55909 8.84 0 Nucleus speckle;Nucleus NA PE1 8 +NX_Q6DKI1 246 28661 10.51 0 Mitochondrion;Nucleolus NA PE1 6 +NX_Q6DKI2 356 39607 9.36 0 NA NA PE1 17 +NX_Q6DKI7 326 34344 9.27 3 Nucleolus;Endoplasmic reticulum;Cell membrane NA PE1 7 +NX_Q6DKJ4 435 48392 4.88 0 Cytosol;Nucleus;Golgi apparatus NA PE1 17 +NX_Q6DKK2 380 42457 5.57 0 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 2 PE1 17 +NX_Q6DN03 193 21472 10.7 0 Nucleus;Chromosome NA PE5 1 +NX_Q6DN12 878 99596 7.48 2 Cytosol;Nucleoplasm;Membrane NA PE1 15 +NX_Q6DN14 999 111624 8.39 2 Cytosol;Endoplasmic reticulum membrane;Synaptic vesicle membrane;Recycling endosome;Nucleoplasm NA PE1 5 +NX_Q6DN72 434 47748 7.53 1 Cell membrane NA PE1 1 +NX_Q6DN90 963 108314 6.49 0 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus NA PE1 3 +NX_Q6DRA6 164 18018 10.6 0 Nucleus;Chromosome NA PE5 1 +NX_Q6DT37 1551 172459 5.91 0 Cytosol;Cytoplasm NA PE1 11 +NX_Q6DWJ6 353 40679 9.43 7 Cell membrane NA PE2 16 +NX_Q6E0U4 476 47082 6.8 0 Nucleoplasm;Cytosol;Secreted NA PE1 19 +NX_Q6E213 333 38094 9.42 3 Endoplasmic reticulum membrane NA PE1 X +NX_Q6EBC2 164 18205 5.28 0 Secreted NA PE1 12 +NX_Q6ECI4 717 82650 8.91 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q6EEV4 148 15131 8.68 0 NA NA PE1 15 +NX_Q6EEV6 95 10685 6.57 0 NA Diabetes mellitus, insulin-dependent, 5 PE1 6 +NX_Q6EIG7 209 23998 5.86 1 Membrane NA PE1 12 +NX_Q6EKJ0 949 107233 5.62 0 Nucleus NA PE1 7 +NX_Q6EMB2 1281 143577 8.82 0 Cytosol;Cytoplasm;Nucleus envelope;Cell membrane;Nucleus;Cilium;Cilium basal body Cone-rod dystrophy 19 PE1 14 +NX_Q6EMK4 673 71713 7.16 1 Mitochondrion;Membrane;Nucleus;Nucleolus;Secreted NA PE1 16 +NX_Q6F5E7 133 14331 8.23 0 NA NA PE2 3 +NX_Q6F5E8 1435 154689 6.31 0 Lamellipodium;Cytoskeleton;Ruffle;Cell membrane;Cytoplasm NA PE1 16 +NX_Q6FHJ7 346 39827 9.12 0 Secreted Pyle disease PE1 7 +NX_Q6FI13 130 14095 10.9 0 Nucleus;Chromosome NA PE1 1 +NX_Q6FI81 312 33582 5.44 0 Mitochondrion;Cytoplasm;Nucleus;Mitochondrion intermembrane space NA PE1 16 +NX_Q6FIF0 208 22555 6.87 0 Cytoplasm NA PE1 15 +NX_Q6GMR7 532 58304 9.2 1 Membrane NA PE1 X +NX_Q6GMV1 187 21132 4.96 0 NA NA PE2 3 +NX_Q6GMV2 418 47341 4.98 0 Mitochondrion NA PE1 2 +NX_Q6GMV3 140 15805 9.2 0 Nucleoplasm NA PE1 2 +NX_Q6GPH4 301 34626 8.57 0 Mitochondrion;Cytoplasm;Nucleus NA PE1 17 +NX_Q6GPH6 555 63395 6 1 Membrane NA PE1 2 +NX_Q6GPI1 263 27923 7.98 0 Extracellular space NA PE1 16 +NX_Q6GQQ9 843 92526 6.27 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA PE1 1 +NX_Q6GTS8 502 55741 6.2 0 Secreted NA PE1 1 +NX_Q6GTX8 287 31412 5.4 1 Cell membrane NA PE1 19 +NX_Q6GV28 225 25828 8.4 4 Acrosome membrane NA PE2 11 +NX_Q6GYQ0 2036 229832 5.79 0 Mitochondrion;Cytosol;Nucleus;Cytoplasm NA PE1 14 +NX_Q6H3X3 334 37106 6.88 1 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane;Secreted NA PE1 6 +NX_Q6H8Q1 611 67812 8.29 0 Nucleoplasm;Cytoplasm;Mitochondrion NA PE1 4 +NX_Q6H9L7 571 63906 4.7 0 Nucleoplasm;Secreted NA PE1 14 +NX_Q6HA08 431 45936 7.67 0 Cytoplasm;Secretory vesicle;Cell membrane;Cytoplasmic granule NA PE1 2 +NX_Q6I9Y2 204 23743 5.47 0 Cytosol;Nucleus speckle;Nucleus;Cytoplasm NA PE1 3 +NX_Q6IA17 410 45679 6.02 1 Cytosol;Nucleolus;Membrane NA PE1 11 +NX_Q6IA69 706 79285 6.02 0 Cytosol NA PE1 11 +NX_Q6IA86 826 92500 5.6 0 Cytosol;Cytoplasm;Nucleus Mental retardation, autosomal recessive 58 PE1 18 +NX_Q6IAA8 161 17745 5.01 0 Cytoplasmic vesicle;Lysosome membrane;Late endosome membrane;Cell membrane;Golgi apparatus NA PE1 11 +NX_Q6IAN0 325 35119 9.59 1 Cytosol;Endoplasmic reticulum membrane;Cell junction;Cell membrane NA PE1 17 +NX_Q6IB77 296 33924 8.38 0 Mitochondrion NA PE1 11 +NX_Q6IBS0 349 39548 6.37 0 Perinuclear region;Stereocilium;Cytoskeleton;Cell membrane NA PE1 3 +NX_Q6IBW4 605 68227 4.66 0 Nucleoplasm;Cytoskeleton;Nucleus;Chromosome NA PE1 22 +NX_Q6IC83 251 27691 5.02 0 NA NA PE2 22 +NX_Q6IC98 578 66408 8.98 3 Mitochondrion membrane NA PE1 22 +NX_Q6ICB0 168 18263 4.86 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA PE1 22 +NX_Q6ICB4 259 28338 6.66 0 Recycling endosome;Clathrin-coated vesicle;trans-Golgi network;Early endosome NA PE1 22 +NX_Q6ICC9 239 26154 11.18 0 Cytosol;Nucleus speckle NA PE1 22 +NX_Q6ICG6 404 45794 8.06 0 Mitochondrion;Nucleus membrane NA PE1 22 +NX_Q6ICG8 309 31909 7.66 0 NA NA PE1 22 +NX_Q6ICH7 369 41699 7.47 1 Membrane NA PE1 22 +NX_Q6ICI0 200 21740 8.82 4 Membrane NA PE2 22 +NX_Q6ICL3 276 30937 5.04 0 Golgi apparatus Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration PE1 22 +NX_Q6ICL7 350 36747 9.66 8 Cytosol;Membrane NA PE1 22 +NX_Q6IE36 1432 161251 5.16 0 Secreted NA PE2 12 +NX_Q6IE37 1185 134499 5.17 0 Secreted NA PE2 12 +NX_Q6IE38 97 11057 9.17 0 Secreted NA PE3 5 +NX_Q6IE81 842 95533 8.2 0 Mitochondrion;Cytoplasm;Nucleus;Cilium basal body NA PE1 4 +NX_Q6IED9 249 27571 9.67 0 NA NA PE5 7 +NX_Q6IEE7 984 107094 5.58 1 Membrane NA PE1 17 +NX_Q6IEE8 588 67096 8.34 1 Membrane NA PE2 17 +NX_Q6IEG0 339 39965 6.49 0 Nucleoplasm;Cytosol;Nucleus NA PE1 6 +NX_Q6IEU7 315 35592 8.56 7 Cell membrane NA PE2 11 +NX_Q6IEV9 310 35003 9.11 7 Cell membrane NA PE2 11 +NX_Q6IEY1 312 35074 9.04 7 Cell membrane NA PE2 5 +NX_Q6IEZ7 315 35595 8.71 7 Cell membrane NA PE2 1 +NX_Q6IF00 324 36228 9.03 7 Cell membrane NA PE2 1 +NX_Q6IF36 304 33950 7.11 7 Cell membrane NA PE5 11 +NX_Q6IF42 318 35820 8.74 7 Cell membrane NA PE2 7 +NX_Q6IF63 320 34414 9.04 7 Cell membrane NA PE2 11 +NX_Q6IF82 309 34760 8.77 7 Cell membrane NA PE3 11 +NX_Q6IF99 312 35029 8.92 7 Cell membrane NA PE3 1 +NX_Q6IFG1 317 35913 9.4 7 Cell membrane NA PE2 11 +NX_Q6IFH4 312 35029 8.41 7 Cell membrane NA PE2 2 +NX_Q6IFN5 339 38279 7.14 7 Cell membrane NA PE2 19 +NX_Q6IMI4 303 34919 6.01 0 Cytoplasm NA PE2 2 +NX_Q6IMI6 304 35889 6.43 0 Cytoplasm NA PE1 2 +NX_Q6IMN6 1127 125925 6.28 0 Cytosol;Cytoplasm;Cell membrane;Nucleus;Mitochondrion;Centrosome NA PE1 12 +NX_Q6IN84 353 38638 8.15 0 Mitochondrion NA PE1 17 +NX_Q6IN85 833 95368 4.83 0 Nucleoplasm;Cytoplasm;Nucleus;Centrosome NA PE1 14 +NX_Q6IN97 320 35161 5.87 0 NA NA PE5 10 +NX_Q6IPM2 695 77298 9.15 0 Mitochondrion;Cytoplasm;Cilium membrane;Cytosol;Nucleoplasm NA PE1 7 +NX_Q6IPR1 90 10864 9.92 0 Mitochondrion;Microtubule organizing center NA PE1 12 +NX_Q6IPR3 259 29794 7.59 0 Cytosol;Cell membrane NA PE1 1 +NX_Q6IPT2 247 27609 8.86 0 Nucleolus NA PE1 19 +NX_Q6IPT4 315 35892 5.05 0 Nucleoplasm NA PE2 1 +NX_Q6IPU0 288 33165 5.9 0 Centromere;Nucleolus;Nucleus NA PE1 9 +NX_Q6IPW1 123 13249 11.73 0 Nucleoplasm NA PE2 11 +NX_Q6IPX1 549 62187 9.24 0 Cell membrane NA PE2 17 +NX_Q6IPX3 200 22298 5.15 0 Nucleus NA PE1 X +NX_Q6IQ16 392 44647 6.99 0 Cytoplasmic vesicle;Nucleus NA PE1 2 +NX_Q6IQ19 270 30216 7.7 0 Centriole;Cell membrane;Cilium;Axon;Spindle;Nucleus;Cilium axoneme;Cytoskeleton;Centrosome;Cilium basal body NA PE1 1 +NX_Q6IQ20 393 45596 5.71 0 Nucleoplasm;Cytosol;Early endosome membrane;Golgi apparatus membrane;Nucleus envelope NA PE1 7 +NX_Q6IQ21 691 80007 9.64 0 Nucleus NA PE1 15 +NX_Q6IQ22 244 27248 8.68 0 Cytoplasmic vesicle;Recycling endosome membrane;Lysosome membrane;Golgi apparatus membrane;Autophagosome NA PE1 18 +NX_Q6IQ23 1121 127135 9.39 0 Cytosol;Cytoplasm;Centrosome;Nucleus;Adherens junction;Cell junction NA PE1 11 +NX_Q6IQ26 1287 147096 6.21 0 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus Epileptic encephalopathy, early infantile, 49 PE1 11 +NX_Q6IQ32 1131 122833 9.3 0 Cytosol;Mitochondrion;Nucleus NA PE1 18 +NX_Q6IQ49 451 49742 5.77 0 Cytosol;Nucleus speckle;Nucleus;Cell membrane;Golgi apparatus NA PE1 1 +NX_Q6IQ55 1244 137412 6.54 0 Cytosol;Centriole;Nucleus;Cilium;Cilium basal body Spinocerebellar ataxia 11 PE1 15 +NX_Q6IS14 154 16773 4.85 0 Endoplasmic reticulum membrane;Cytoplasm;Nuclear pore complex;Nucleus NA PE2 10 +NX_Q6IS24 598 67751 9.07 1 Golgi apparatus membrane;Nucleolus;Nucleus;Golgi apparatus NA PE1 7 +NX_Q6ISB3 625 71105 6.06 0 Nucleoplasm;Nucleus;Membrane Corneal dystrophy, posterior polymorphous, 4;Deafness, autosomal dominant, 28;Ectodermal dysplasia/short stature syndrome PE1 8 +NX_Q6ISS4 152 16280 5.13 0 Secreted NA PE1 19 +NX_Q6ISU1 281 29266 6.58 1 Membrane NA PE1 6 +NX_Q6IV72 752 87721 9.43 0 Cytoplasm;Nucleus NA PE1 7 +NX_Q6IWH7 933 105532 8.11 8 Cytosol;Endoplasmic reticulum;Cell junction;Cell membrane NA PE1 2 +NX_Q6J272 317 36165 7.68 0 NA NA PE1 9 +NX_Q6J4K2 584 64231 8.32 13 Mitochondrion inner membrane NA PE1 12 +NX_Q6J9G0 422 47577 7.1 1 Nucleus;Golgi apparatus;Cell membrane;Membrane NA PE1 12 +NX_Q6JBY9 416 44504 5.34 0 Nucleoplasm;Cell membrane NA PE1 1 +NX_Q6JEL2 608 68942 5.47 0 Cytoplasm Spermatogenic failure 11 PE1 17 +NX_Q6JQN1 1059 118834 8.33 0 NA NA PE1 12 +NX_Q6JVE5 192 21500 5.48 0 Secreted NA PE2 9 +NX_Q6JVE6 187 20759 10.36 0 Secreted NA PE1 9 +NX_Q6JVE9 175 19080 6.83 0 Secreted NA PE2 9 +NX_Q6K0P9 492 55065 9.82 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 1 +NX_Q6KB66 452 50525 5.58 0 Cytoskeleton NA PE1 12 +NX_Q6KC79 2804 316051 8.09 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Chromosome Cornelia de Lange syndrome 1 PE1 5 +NX_Q6KCM7 469 52663 8.54 6 Mitochondrion;Cytoplasmic vesicle;Mitochondrion inner membrane NA PE1 9 +NX_Q6KF10 455 50662 9.1 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus membrane;Secreted Multiple synostoses syndrome 4;Microphthalmia, isolated, 4;Klippel-Feil syndrome 1, autosomal dominant;Leber congenital amaurosis 17 PE1 8 +NX_Q6L8G4 156 14610 8.16 0 NA NA PE1 11 +NX_Q6L8G5 202 17984 8.19 0 NA NA PE2 11 +NX_Q6L8G8 165 15150 8.05 0 NA NA PE2 11 +NX_Q6L8G9 129 11784 8.18 0 NA NA PE1 11 +NX_Q6L8H1 288 25249 8.38 0 NA NA PE1 11 +NX_Q6L8H2 238 22106 8.32 0 NA NA PE1 11 +NX_Q6L8H4 278 24194 8.39 0 NA NA PE2 11 +NX_Q6L8Q7 609 67352 6.11 0 Mitochondrion matrix NA PE1 3 +NX_Q6L9T8 149 16688 6.27 0 NA NA PE2 1 +NX_Q6L9W6 998 114975 7.07 1 Golgi stack membrane NA PE1 12 +NX_Q6MZM0 1159 131603 6.27 1 Membrane NA PE1 11 +NX_Q6MZM9 219 22720 4.82 0 Endoplasmic reticulum;Secreted NA PE1 4 +NX_Q6MZN7 132 14098 7.83 0 NA NA PE2 6 +NX_Q6MZP7 749 79494 9.22 0 Cytosol;Nucleus NA PE1 4 +NX_Q6MZQ0 368 40836 6.28 0 Cytosol;Cytoskeleton NA PE1 11 +NX_Q6MZT1 257 28962 8.79 0 Cytoplasm;Nucleus;Cell membrane NA PE1 5 +NX_Q6MZW2 842 93096 5.88 0 Mitochondrion;Secreted NA PE1 5 +NX_Q6MZZ7 669 76696 7.01 0 Nucleoplasm NA PE1 2 +NX_Q6N021 2002 223811 8.22 0 Nucleoplasm Myelodysplastic syndrome;Polycythemia vera PE1 4 +NX_Q6N022 2769 307957 6.1 1 Nucleus;Cell projection;Cell membrane;Cytoplasm Tremor, hereditary essential 5 PE1 11 +NX_Q6N043 979 109285 8.51 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Centrosome NA PE1 15 +NX_Q6N063 350 38996 5.45 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q6N069 864 101462 8.06 0 Cytosol NA PE1 13 +NX_Q6N075 450 49765 7.96 12 Cell membrane;Golgi apparatus NA PE1 12 +NX_Q6NS38 261 29322 9.68 0 Nucleus NA PE1 12 +NX_Q6NSI1 321 35437 5.23 0 NA NA PE5 16 +NX_Q6NSI3 398 42585 9.21 0 Nucleoplasm;Nucleus NA PE1 4 +NX_Q6NSI4 855 97554 8.65 0 Cytoskeleton;Chromosome NA PE1 X +NX_Q6NSI8 718 82007 6.5 0 Nucleolus;Nucleus NA PE1 2 +NX_Q6NSJ0 714 81087 8.6 1 Mitochondrion;Endoplasmic reticulum membrane;Nucleus membrane NA PE1 9 +NX_Q6NSJ2 640 71912 6.16 0 Cytosol;Nucleus speckle;Cell membrane NA PE1 19 +NX_Q6NSJ5 796 90247 6.52 4 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum NA PE1 19 +NX_Q6NSW5 357 40514 6.09 0 NA NA PE5 X +NX_Q6NSW7 305 34673 5.85 0 Nucleus NA PE2 15 +NX_Q6NSX1 233 28767 5.7 0 Cell membrane;Secreted NA PE1 13 +NX_Q6NSZ9 544 61474 7.82 0 Nucleolus;Nucleus NA PE1 7 +NX_Q6NT04 549 63236 8.91 0 Cytosol;Nucleus;Cell membrane NA PE1 16 +NX_Q6NT16 456 48869 5.15 12 Cytosol;Golgi apparatus;Membrane NA PE1 6 +NX_Q6NT32 575 63926 5.98 0 Secreted NA PE1 16 +NX_Q6NT46 116 12785 4.37 0 NA NA PE1 X +NX_Q6NT52 163 17374 8.91 0 Secreted NA PE2 19 +NX_Q6NT55 531 61958 8.95 0 Endoplasmic reticulum membrane;Microsome membrane Ichthyosis, congenital, autosomal recessive 5 PE1 19 +NX_Q6NT76 420 47278 5.72 0 Cajal body;PML body;Cytosol;Cytoplasm;Telomere;Nucleoplasm;Nucleus NA PE1 8 +NX_Q6NT89 227 23482 11.43 0 Nucleus NA PE2 1 +NX_Q6NTE8 343 37743 8.98 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA PE1 5 +NX_Q6NTF7 200 23532 8.84 0 Cytoplasm;P-body;Nucleus NA PE1 22 +NX_Q6NTF9 364 39202 9.48 5 cis-Golgi network membrane;Golgi apparatus NA PE1 7 +NX_Q6NUI1 221 23810 6.67 0 Nucleus;Cell membrane NA PE5 17 +NX_Q6NUI2 795 87835 7.74 2 Mitochondrion;Mitochondrion outer membrane NA PE1 2 +NX_Q6NUI6 762 82388 9.2 0 Secreted;Extracellular matrix NA PE1 22 +NX_Q6NUJ1 521 56627 7.12 0 Cytosol;Secreted NA PE1 4 +NX_Q6NUJ2 197 20623 9.85 1 Membrane NA PE1 11 +NX_Q6NUJ5 590 63967 8.52 0 Nucleoplasm NA PE1 10 +NX_Q6NUK1 477 53354 6 6 Mitochondrion;Mitochondrion inner membrane Fontaine progeroid syndrome PE1 1 +NX_Q6NUK4 255 29264 9.57 3 Endoplasmic reticulum membrane NA PE1 10 +NX_Q6NUM6 668 76946 5.86 0 NA NA PE2 7 +NX_Q6NUM9 610 66820 8.54 0 Endoplasmic reticulum membrane;Nucleolus NA PE1 2 +NX_Q6NUN0 579 64760 8.69 0 Mitochondrion matrix NA PE1 16 +NX_Q6NUN7 778 88569 9.28 0 Nucleoplasm;Golgi apparatus NA PE1 11 +NX_Q6NUN9 644 69136 6.41 0 Cytoplasm;Nucleus NA PE1 7 +NX_Q6NUP7 873 99452 7.96 0 Cytosol;Cytoplasm NA PE1 14 +NX_Q6NUQ1 792 90632 5.29 0 Endoplasmic reticulum membrane;Cytoplasm;Golgi apparatus NA PE1 7 +NX_Q6NUQ4 689 77151 9.28 2 Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum;Golgi apparatus NA PE1 2 +NX_Q6NUR6 42 5133 5.4 0 NA NA PE5 7 +NX_Q6NUS6 607 66157 8.6 1 Cytoskeleton;Endoplasmic reticulum;Membrane Joubert syndrome 18;Orofaciodigital syndrome 4 PE1 10 +NX_Q6NUS8 523 59151 8.2 1 Cytosol;Cytoplasmic vesicle;Membrane NA PE1 5 +NX_Q6NUT2 758 87374 9.24 11 Mitochondrion;Nucleus;Membrane Spermatogenic failure 9 PE1 12 +NX_Q6NUT3 480 52075 8.67 12 Mitochondrion;Nucleoplasm;Membrane NA PE1 19 +NX_Q6NV74 962 102157 8.14 0 Cytoskeleton;Centrosome NA PE1 2 +NX_Q6NV75 609 65361 7.9 7 Cell membrane NA PE2 1 +NX_Q6NVH7 229 24311 5.09 0 Nucleus NA PE1 19 +NX_Q6NVU6 142 15060 5.9 0 NA NA PE1 7 +NX_Q6NVV0 33 3805 3.31 0 NA NA PE5 12 +NX_Q6NVV1 102 12135 10.76 0 NA NA PE5 14 +NX_Q6NVV3 410 44638 5.68 9 Golgi apparatus;Membrane NA PE1 4 +NX_Q6NVV7 123 13877 8.34 0 Cytosol;Nucleus NA PE1 22 +NX_Q6NVV9 412 47181 6.34 0 NA NA PE5 8 +NX_Q6NVY1 386 43482 8.38 0 Mitochondrion;Nucleoplasm 3-hydroxyisobutryl-CoA hydrolase deficiency PE1 2 +NX_Q6NW29 188 21251 5.24 0 Cytoskeleton NA PE1 4 +NX_Q6NW34 567 64552 9.79 0 Nucleolus;Nucleus NA PE1 3 +NX_Q6NW40 437 47547 5.92 0 Nucleoplasm;Membrane raft;Cell membrane NA PE1 5 +NX_Q6NWY9 871 99358 6.39 0 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm NA PE1 12 +NX_Q6NX45 483 55068 8.72 0 Cytosol;Cytoskeleton;Nucleus NA PE1 15 +NX_Q6NX49 715 81742 8.15 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q6NXE6 501 54142 5.83 0 Cytosol NA PE1 19 +NX_Q6NXG1 681 75585 6.24 0 Nucleoplasm;Nucleus Deafness, autosomal recessive, 109 PE1 8 +NX_Q6NXN4 242 28036 9.85 3 Membrane NA PE2 7 +NX_Q6NXP0 572 66551 9.51 0 NA NA PE1 3 +NX_Q6NXP2 309 34516 6.15 0 Nucleoplasm NA PE2 7 +NX_Q6NXP6 359 39880 6.2 0 NA NA PE1 14 +NX_Q6NXR0 463 50288 5.22 0 NA NA PE1 19 +NX_Q6NXR4 508 56915 6.63 0 Centrosome Mental retardation, autosomal recessive 39 PE1 8 +NX_Q6NXS1 205 23106 4.77 0 NA NA PE1 5 +NX_Q6NXT1 300 32505 5.84 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus;Midbody NA PE1 22 +NX_Q6NXT2 135 15214 11.11 0 Nucleus;Chromosome NA PE1 12 +NX_Q6NXT4 461 51116 9.28 6 trans-Golgi network membrane;Golgi apparatus NA PE1 2 +NX_Q6NXT6 567 64260 8.56 5 Cytoplasmic vesicle;Membrane;Centrosome;Cilium basal body Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type PE1 4 +NX_Q6NY19 840 88425 5.17 0 Cell membrane NA PE1 19 +NX_Q6NYC1 403 46462 8.84 0 Nucleoplasm;Nucleolus NA PE1 17 +NX_Q6NYC8 613 67943 5.38 0 Nucleoplasm;Cytoskeleton;Cell membrane NA PE1 6 +NX_Q6NZ36 180 19869 6.9 0 Nucleoplasm;Nucleus;Cell junction;Chromosome NA PE1 1 +NX_Q6NZ63 245 28815 8.82 4 Membrane NA PE2 7 +NX_Q6NZ67 158 16226 10.16 0 Cytoplasm;Spindle;Centrosome NA PE1 2 +NX_Q6NZI2 390 43476 5.51 0 Cytosol;Microsome;Cell membrane;Cytoplasmic vesicle;Mitochondrion;Nucleus;Endoplasmic reticulum;Caveola Congenital generalized lipodystrophy 4 PE1 17 +NX_Q6NZY4 707 78577 4.8 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q6NZY7 148 15207 6.9 0 Cytoskeleton;Endomembrane system NA PE1 19 +NX_Q6P047 294 33735 7.74 0 Nucleoplasm NA PE1 8 +NX_Q6P050 247 27269 9.99 0 Cytosol;Nucleolus;Z line NA PE1 15 +NX_Q6P087 351 38461 10.33 0 Mitochondrion matrix;Nucleus NA PE1 3 +NX_Q6P093 401 46099 7.2 0 Secreted NA PE2 3 +NX_Q6P0A1 224 25167 4.95 1 Membrane NA PE1 11 +NX_Q6P0N0 1132 129085 9.31 0 Cytosol;Nucleus;Nucleolus;Centromere;Chromosome NA PE1 14 +NX_Q6P0Q8 1798 196436 8.41 0 Cytosol;Cytoskeleton;Cell membrane NA PE1 1 +NX_Q6P158 1386 155604 7.83 0 Cytosol;Cytoskeleton;Nucleolus NA PE1 2 +NX_Q6P161 138 15819 9.6 0 Mitochondrion NA PE1 19 +NX_Q6P179 960 110462 6.25 1 Endoplasmic reticulum membrane;Golgi apparatus NA PE1 5 +NX_Q6P1A2 487 56035 8.88 9 Endoplasmic reticulum membrane NA PE1 12 +NX_Q6P1J6 1458 163081 5.57 1 Cytosol;Apical cell membrane NA PE1 2 +NX_Q6P1J9 531 60577 9.63 0 Cytosol;Nucleus Hyperparathyroidism 1;Parathyroid carcinoma;Hyperparathyroidism 2 with jaw tumors PE1 1 +NX_Q6P1K1 146 16419 9.66 4 Endosome membrane;Cytoplasmic vesicle;Lysosome membrane NA PE1 12 +NX_Q6P1K2 205 23339 5.39 0 Nucleoplasm;Kinetochore;Cytoplasmic vesicle;Nucleus NA PE1 1 +NX_Q6P1K8 395 44452 6.13 0 Nucleus NA PE1 5 +NX_Q6P1L5 589 61968 9.86 0 Nucleus;Centrosome NA PE1 2 +NX_Q6P1L6 599 69220 9.19 0 Nucleoplasm;Nucleus NA PE1 20 +NX_Q6P1L8 145 15948 10.26 0 Mitochondrion NA PE1 6 +NX_Q6P1M0 643 72064 8.77 2 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Membrane Ichthyosis prematurity syndrome PE1 9 +NX_Q6P1M3 1020 113448 7.22 0 Cytoplasmic vesicle;Cytosol;Cytoplasm NA PE1 17 +NX_Q6P1M9 558 62346 8.85 0 Cytosol;Nucleus speckle NA PE1 X +NX_Q6P1N0 951 104062 8.22 0 Nucleolus;Cytosol;Cytoplasm;Cell membrane;Nucleus;Centrosome Mental retardation, autosomal recessive 3 PE1 19 +NX_Q6P1N9 297 33602 6.51 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q6P1Q0 360 41790 10.32 1 Mitochondrion;Nucleoplasm;Mitochondrion outer membrane NA PE1 12 +NX_Q6P1Q9 378 43426 5.59 0 NA NA PE1 7 +NX_Q6P1R3 559 61319 5.86 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q6P1R4 473 53230 8.65 0 Cell membrane NA PE1 17 +NX_Q6P1S2 294 33765 9.85 1 Nucleoplasm;Cytosol;Secreted;Membrane NA PE1 3 +NX_Q6P1W5 598 65353 8.56 0 Cytosol;Nucleoplasm NA PE1 1 +NX_Q6P1X5 1199 136971 8.45 0 Nucleus Mental retardation, autosomal recessive 40 PE1 8 +NX_Q6P1X6 216 23889 9.36 0 Nucleus NA PE1 8 +NX_Q6P280 563 65865 8.54 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q6P2C0 686 77378 5.99 0 Cytoskeleton NA PE1 15 +NX_Q6P2C8 311 35432 9.37 0 Cytosol;Nucleolus;Nucleus NA PE1 9 +NX_Q6P2D0 407 47516 8.85 0 Nucleus NA PE1 16 +NX_Q6P2D8 792 89864 9.06 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 11 +NX_Q6P2E9 1401 151661 5.55 0 Cytosol;Nucleoplasm;P-body;Nucleus NA PE1 16 +NX_Q6P2H3 762 85639 5.68 0 Nucleolus;Golgi apparatus;Cytosol;Spindle pole;Microtubule organizing center;Centrosome NA PE1 1 +NX_Q6P2H8 277 31630 8.81 1 Focal adhesion;Golgi apparatus;Membrane NA PE1 1 +NX_Q6P2I3 314 34613 7.64 0 NA NA PE1 2 +NX_Q6P2I7 272 30450 9.2 0 Nucleoplasm;Nucleus NA PE2 3 +NX_Q6P2M8 343 38500 6.28 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Cell membrane NA PE1 X +NX_Q6P2P2 845 94501 5.12 0 Cytosol;Nucleoplasm;Cytoskeleton;Cytoplasm NA PE1 4 +NX_Q6P2Q9 2335 273600 8.95 0 Nucleoplasm;Nucleus speckle Retinitis pigmentosa 13 PE1 17 +NX_Q6P2S7 1318 151684 8.53 0 Cytoplasm NA PE5 12 +NX_Q6P387 395 43418 8.79 0 Cytosol;Nucleoplasm NA PE2 16 +NX_Q6P3R8 708 81445 9.05 0 NA NA PE2 13 +NX_Q6P3S1 775 86552 5.54 0 Cytosol;Nucleus speckle;Clathrin-coated vesicle Asthma PE1 1 +NX_Q6P3S6 717 77839 7.07 0 Nucleoplasm NA PE1 1 +NX_Q6P3V2 769 87974 9.26 0 Nucleus NA PE1 19 +NX_Q6P3W2 149 17139 4.53 0 Cytosol;Cytoskeleton NA PE1 11 +NX_Q6P3W6 841 96426 4.63 0 Cytoplasm NA PE2 1 +NX_Q6P3W7 929 103709 8.45 0 Endosome membrane;Clathrin-coated vesicle;Perinuclear region;trans-Golgi network membrane NA PE1 12 +NX_Q6P3X3 843 96632 5.42 0 Mitochondrion;Nucleolus NA PE1 2 +NX_Q6P3X8 592 68011 8.82 0 Cytoplasmic vesicle NA PE1 1 +NX_Q6P435 159 17652 9.6 0 NA NA PE5 16 +NX_Q6P444 385 43384 6.53 0 Mitochondrion;Cytoplasmic vesicle NA PE1 6 +NX_Q6P461 480 53585 8.73 0 Mitochondrion NA PE2 10 +NX_Q6P474 469 51810 5.65 0 NA NA PE5 16 +NX_Q6P499 406 44742 8.1 9 Nucleoplasm;Membrane NA PE1 1 +NX_Q6P4A7 337 37998 9.3 5 Cytoplasmic vesicle;Mitochondrion inner membrane Combined oxidative phosphorylation deficiency 18 PE1 10 +NX_Q6P4A8 553 63255 9.11 0 Lysosome NA PE1 12 +NX_Q6P4D5 195 22522 9.92 0 Nucleoplasm NA PE1 X +NX_Q6P4E1 433 48864 5.54 1 Golgi apparatus;Membrane NA PE1 15 +NX_Q6P4F1 479 56094 8.62 1 Nucleoplasm;Golgi stack membrane;Golgi apparatus;Endoplasmic reticulum NA PE1 8 +NX_Q6P4F2 186 19888 5.31 0 Mitochondrion;Mitochondrion matrix NA PE1 19 +NX_Q6P4F7 1023 113866 9.19 0 Cytosol;Nucleolus NA PE1 15 +NX_Q6P4H8 233 26110 9.04 1 Cytoplasmic vesicle;Cytoplasm;Nucleus;Mitochondrion membrane;Cell membrane NA PE1 5 +NX_Q6P4I2 378 41685 5.46 0 Cytosol;Spindle;Spindle pole;Cleavage furrow Galloway-Mowat syndrome 1 PE1 15 +NX_Q6P4Q7 775 86607 5.75 3 Cytoskeleton;Cell membrane Jalili syndrome PE1 2 +NX_Q6P4R8 1299 139001 9.29 0 Nucleus NA PE1 11 +NX_Q6P531 493 50509 5.66 1 Membrane NA PE1 17 +NX_Q6P575 273 29908 6.54 0 NA NA PE5 22 +NX_Q6P582 158 16221 9.66 0 Cytoplasm;Spindle;Centrosome NA PE1 2 +NX_Q6P587 224 24843 6.96 0 Mitochondrion;Cytosol;Nucleus NA PE1 16 +NX_Q6P589 184 20556 8.54 0 Cytoplasmic vesicle NA PE1 1 +NX_Q6P597 504 55364 6.06 0 Nucleoplasm;Cytosol;Cytoskeleton NA PE1 19 +NX_Q6P5Q4 547 61675 5.63 0 Sarcomere;Cytoskeleton;M line;Myofibril NA PE1 7 +NX_Q6P5R6 122 14607 9.37 0 NA NA PE1 3 +NX_Q6P5S2 330 37926 5.78 0 Secreted NA PE1 6 +NX_Q6P5S7 137 15420 9.21 2 Membrane NA PE1 17 +NX_Q6P5W5 647 68408 5.27 6 Recycling endosome membrane;Cell membrane Acrodermatitis enteropathica, zinc-deficiency type PE1 8 +NX_Q6P5X5 142 16805 8.22 0 Endoplasmic reticulum NA PE1 22 +NX_Q6P5X7 295 32983 6.06 2 Mitochondrion;Membrane NA PE2 8 +NX_Q6P5Z2 889 99421 8.77 0 Cytoplasmic vesicle;Perinuclear region;Nucleus NA PE1 9 +NX_Q6P656 301 34294 5.84 0 NA NA PE1 15 +NX_Q6P6B1 374 39936 4.46 0 Cytosol;Nucleoplasm;Golgi apparatus NA PE1 8 +NX_Q6P6B7 361 39284 6.82 0 Cytoplasm;Nucleus;Endoplasmic reticulum NA PE1 10 +NX_Q6P6C2 394 44256 9.19 0 Nucleoplasm;Nucleus speckle;Cytosol;Golgi apparatus NA PE1 17 +NX_Q6P7N7 255 28468 8.92 1 Cytoskeleton;Membrane NA PE2 1 +NX_Q6P988 496 55699 7.52 0 Secreted NA PE1 17 +NX_Q6P995 826 92181 8.79 1 Mitochondrion;Nucleus;Membrane NA PE1 2 +NX_Q6P996 788 86707 5.25 0 NA NA PE1 16 +NX_Q6P9A1 599 68837 9.01 0 Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_Q6P9A2 607 69561 6.07 1 Mitochondrion;Golgi apparatus membrane NA PE1 11 +NX_Q6P9A3 640 74439 8.88 0 Nucleoplasm;Cytosol;Nucleus NA PE1 19 +NX_Q6P9B6 456 50994 5.81 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Membrane NA PE1 16 +NX_Q6P9B9 1019 107995 6.58 3 Cytoplasm;Nucleus;Nucleus membrane NA PE1 11 +NX_Q6P9F0 684 77748 5.73 0 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA PE1 12 +NX_Q6P9F5 258 29336 7.54 0 NA NA PE1 6 +NX_Q6P9F7 803 92390 6.4 4 Endoplasmic reticulum membrane;Nucleus speckle;Cell membrane NA PE1 1 +NX_Q6P9G0 228 26689 5.37 0 Nucleolus;Golgi apparatus NA PE1 17 +NX_Q6P9G4 183 20498 4.5 1 Nucleoplasm;Nucleus membrane;Membrane NA PE1 4 +NX_Q6P9G9 518 59932 6.96 0 Nucleoplasm;Cytosol;Nucleus NA PE1 X +NX_Q6P9H4 555 61904 8.94 0 Cytosol;Cytoplasm;Mitochondrion;Apical cell membrane NA PE1 6 +NX_Q6P9H5 292 32949 4.86 0 Cytosol;Nucleoplasm NA PE1 7 +NX_Q6PB30 78 8697 10.94 0 NA NA PE2 X +NX_Q6PCB0 445 46804 7.18 0 Basement membrane NA PE1 1 +NX_Q6PCB5 846 94870 8.91 0 Nucleus speckle;Nucleus;Cell membrane NA PE1 7 +NX_Q6PCB6 329 35831 5.42 0 Postsynaptic density;Recycling endosome membrane;Dendritic spine NA PE1 15 +NX_Q6PCB7 646 71108 8.83 1 Cytosol;Mitochondrion;Endomembrane system;Cell membrane;Cytoplasm NA PE1 19 +NX_Q6PCB8 327 36881 6.13 1 Synapse;Cell membrane NA PE1 5 +NX_Q6PCD5 774 85094 6.02 0 Cytosol;Cytoplasm;Nucleus;PML body;Nucleoplasm Fanconi anemia, complementation group W PE1 16 +NX_Q6PCE3 622 70442 6.81 0 Mitochondrion NA PE1 11 +NX_Q6PCT2 694 75707 9.44 0 Cytoskeleton NA PE1 16 +NX_Q6PD62 1173 133502 6.32 0 Nucleoplasm;Nucleus speckle NA PE1 11 +NX_Q6PD74 315 34594 4.5 0 Cytosol;Cytoplasm;Nucleus speckle Keratoderma, palmoplantar, punctate 1A PE1 15 +NX_Q6PDA7 123 13842 10.54 0 Secreted NA PE2 8 +NX_Q6PDB4 577 66762 9.45 0 NA NA PE2 19 +NX_Q6PEV8 388 42801 4.95 0 Cytosol;Nucleus;Golgi apparatus NA PE1 X +NX_Q6PEW0 395 43832 6.22 0 Secreted NA PE1 16 +NX_Q6PEW1 402 45369 5.87 0 Nucleus NA PE1 X +NX_Q6PEX3 210 22554 8.03 0 NA NA PE1 21 +NX_Q6PEX7 206 23280 5.84 1 Membrane NA PE1 1 +NX_Q6PEY0 223 25860 8.91 4 Gap junction;Cell membrane NA PE2 6 +NX_Q6PEY1 159 17251 10.11 2 Cell membrane NA PE1 17 +NX_Q6PEY2 450 49859 5.01 0 Cytoskeleton NA PE1 2 +NX_Q6PEZ8 512 56539 9.91 0 Extracellular matrix NA PE1 19 +NX_Q6PF04 617 70143 9.17 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 19 +NX_Q6PF05 361 40837 6.81 0 Spindle;Midbody;Centrosome NA PE1 5 +NX_Q6PF06 316 36124 7.05 0 Nucleoplasm;Cell membrane NA PE1 9 +NX_Q6PF15 583 62892 8.08 0 Nucleolus;Nucleus;Centrosome NA PE1 11 +NX_Q6PF18 240 27585 8.63 0 Nucleoplasm NA PE1 12 +NX_Q6PFW1 1433 159521 5.26 0 Cytosol;Cell membrane NA PE1 15 +NX_Q6PG37 636 74571 8.81 0 Nucleolus;Nucleus NA PE1 19 +NX_Q6PGN9 363 38796 11.21 0 Nucleoplasm;Cytoplasm;Spindle;Cytosol;Spindle pole NA PE1 1 +NX_Q6PGP7 1564 175486 7.47 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Trichohepatoenteric syndrome 1 PE1 5 +NX_Q6PGQ1 229 25064 3.88 0 Nucleolus;Nucleus;Cell membrane NA PE1 22 +NX_Q6PGQ7 559 61203 4.8 0 Nucleolus;Nucleus NA PE1 13 +NX_Q6PH81 154 17799 10.09 0 Nucleoplasm NA PE1 16 +NX_Q6PH85 259 30179 5.7 0 Cytosol;Cell membrane NA PE1 13 +NX_Q6PHR2 472 53444 6.91 0 Cytoplasm NA PE1 15 +NX_Q6PHW0 289 33360 7.16 1 Cytoplasmic vesicle membrane;Cell membrane Thyroid dyshormonogenesis 4 PE1 6 +NX_Q6PI25 160 18931 6.87 3 Endoplasmic reticulum membrane;Dendrite;Postsynaptic cell membrane;Dendritic spine;Postsynaptic density NA PE1 11 +NX_Q6PI26 577 65125 4.7 0 Cytosol;Nucleoplasm NA PE1 3 +NX_Q6PI47 426 46739 9.23 0 Mitochondrion NA PE1 2 +NX_Q6PI48 645 73563 8.19 0 Mitochondrion matrix;Mitochondrion;Nucleus Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation PE1 1 +NX_Q6PI73 481 52399 7.67 1 Membrane NA PE1 19 +NX_Q6PI77 547 60291 7.51 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 X +NX_Q6PI78 240 25498 8.9 3 Nucleoplasm;Mitochondrion inner membrane;Cell membrane NA PE1 8 +NX_Q6PI97 169 19340 8.9 0 NA NA PE1 11 +NX_Q6PI98 192 20643 10.03 0 Nucleolus;Nucleus NA PE1 18 +NX_Q6PID6 262 29411 5.32 0 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA PE1 5 +NX_Q6PID8 442 49098 9.47 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 7 +NX_Q6PIF2 218 24690 5.57 0 Nucleus NA PE1 19 +NX_Q6PIF6 2116 241599 8.82 0 Microvillus;Cytoskeleton NA PE1 2 +NX_Q6PII3 467 53958 6.04 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Hypotonia, infantile, with psychomotor retardation PE1 3 +NX_Q6PII5 290 31557 8.57 0 NA NA PE1 16 +NX_Q6PIJ6 1188 133944 5.92 0 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Cytoskeleton Neuronopathy, distal hereditary motor, 2D PE1 5 +NX_Q6PIL6 250 28729 5.12 0 Cytoplasm;Cell membrane;Endoplasmic reticulum NA PE1 4 +NX_Q6PIS1 610 64531 7.24 12 Nucleus;Cell junction;Membrane NA PE2 2 +NX_Q6PIU1 500 56304 5.75 6 Cell membrane NA PE1 8 +NX_Q6PIU2 408 45808 6.76 1 Microsome;Endoplasmic reticulum;Membrane NA PE1 3 +NX_Q6PIV2 292 33310 9.3 0 Nucleus NA PE1 11 +NX_Q6PIV7 304 32224 9.28 6 Mitochondrion;Mitochondrion inner membrane NA PE2 1 +NX_Q6PIW4 674 74077 8.07 0 Cytoplasm;Perinuclear region;Nucleus NA PE1 7 +NX_Q6PIY5 440 48855 5.56 0 Cytosol NA PE1 1 +NX_Q6PIY7 484 56028 9.45 0 Cytosol;Cytoplasm;Nucleus NA PE1 5 +NX_Q6PIZ9 186 21211 5.23 1 Cell membrane NA PE1 3 +NX_Q6PJ21 355 39376 8.74 0 Mitochondrion NA PE1 16 +NX_Q6PJ61 603 64631 7.19 0 Cytosol;Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_Q6PJ69 517 57353 6.26 0 Cytosol;Cytoplasmic vesicle;Nucleoplasm NA PE1 17 +NX_Q6PJE2 187 20620 6.81 0 NA NA PE2 7 +NX_Q6PJF5 856 96686 9.1 7 Endoplasmic reticulum membrane;Cell membrane Tylosis with esophageal cancer PE1 17 +NX_Q6PJG2 1045 114989 9.26 0 Nucleoplasm;Nucleus NA PE1 14 +NX_Q6PJG6 821 88119 5.11 0 Nucleoplasm;Cytoplasm;Nucleus Rigidity and multifocal seizure syndrome, lethal neonatal PE1 7 +NX_Q6PJG9 635 66860 6.44 1 Membrane NA PE1 11 +NX_Q6PJI9 974 109793 8.2 0 Cytosol;Lysosome membrane NA PE1 16 +NX_Q6PJP8 1040 116400 8.24 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 10 +NX_Q6PJQ5 311 35924 4.92 0 Nucleoplasm;Nucleus NA PE1 X +NX_Q6PJT7 736 82876 6.99 0 Nucleus speckle;Cytoplasm Mental retardation, autosomal recessive 56 PE1 14 +NX_Q6PJW8 725 79597 4.4 1 Cytoplasmic vesicle;Secretory vesicle;trans-Golgi network membrane;Cell membrane NA PE1 1 +NX_Q6PK04 289 33231 10.94 0 Nucleolus;Chromosome NA PE1 17 +NX_Q6PK18 319 35646 8.3 1 Nucleoplasm;Membrane NA PE1 17 +NX_Q6PK57 102 11596 4.82 0 NA NA PE5 15 +NX_Q6PK81 442 50502 9.18 0 Nucleus NA PE1 19 +NX_Q6PKC3 985 110529 6.11 1 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA PE1 16 +NX_Q6PKG0 1096 123510 8.91 0 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Cytoplasmic granule NA PE1 5 +NX_Q6PKH6 230 24586 10.13 0 Secreted NA PE2 14 +NX_Q6PKX4 331 38318 8.72 0 Cytosol;Focal adhesion NA PE1 18 +NX_Q6PL18 1390 158554 5.94 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q6PL24 325 35740 4.61 0 NA NA PE1 14 +NX_Q6PL45 260 28486 6.98 2 Nucleoplasm;Cytoskeleton;Membrane NA PE1 16 +NX_Q6PML9 568 63515 8.6 5 Cytoplasmic vesicle;Cytoplasm;Nucleus;Endoplasmic reticulum;Membrane Birk-Landau-Perez syndrome PE1 4 +NX_Q6PP77 449 52052 8.46 10 Cell membrane NA PE2 X +NX_Q6PRD1 2367 257363 5.54 7 Cell membrane Night blindness, congenital stationary, 1E PE1 17 +NX_Q6PRD7 247 25959 9.73 0 Cytoplasm;Nucleus NA PE1 16 +NX_Q6PUV4 134 15394 5.06 0 Cytosol NA PE1 5 +NX_Q6PXP3 512 55728 8.68 12 Membrane NA PE2 1 +NX_Q6Q0C0 670 74609 6.77 0 Cytoplasmic vesicle;Cell membrane NA PE1 16 +NX_Q6Q0C1 308 33435 9.39 6 Mitochondrion inner membrane NA PE2 14 +NX_Q6Q4G3 990 113283 5.42 1 Membrane NA PE1 5 +NX_Q6Q6R5 217 24088 8.98 0 Cytoplasm;Nucleus speckle NA PE2 6 +NX_Q6Q759 2223 251742 5.88 0 Cytoplasm;Flagellum axoneme NA PE1 1 +NX_Q6Q788 366 41213 5.98 0 Secreted Hyperlipoproteinemia 5;Hypertriglyceridemia, familial PE1 11 +NX_Q6Q795 121 13358 8.84 0 NA NA PE5 3 +NX_Q6Q8B3 271 29920 9.31 1 Membrane NA PE2 3 +NX_Q6QAJ8 160 17754 6.95 5 Nucleoplasm;Membrane NA PE2 17 +NX_Q6QEF8 472 52762 5.63 0 Golgi apparatus NA PE1 17 +NX_Q6QHC5 323 37197 9.38 3 Endoplasmic reticulum membrane;Nucleolus;Nucleus NA PE1 14 +NX_Q6QHF9 649 70290 5.34 0 Nucleoplasm;Cytoplasm;Centrosome;Peroxisome NA PE1 10 +NX_Q6QHK4 219 24123 7.76 0 Nucleus Premature ovarian failure 6 PE1 2 +NX_Q6QN14 398 44690 6.86 0 Cytoplasm;Nucleus NA PE1 4 +NX_Q6QNK2 874 96530 8.02 7 Cytosol;Nucleus;Cell membrane NA PE1 12 +NX_Q6QNY0 202 21256 5.08 0 Cytoplasm;Golgi apparatus Hermansky-Pudlak syndrome 8 PE1 19 +NX_Q6QNY1 142 15961 4.78 0 Lysosome membrane;Centrosome NA PE1 10 +NX_Q6R2W3 1325 151666 6.29 0 Nucleolus;Nucleus;Golgi apparatus NA PE1 6 +NX_Q6R327 1708 192218 7.22 0 Mitochondrion NA PE1 5 +NX_Q6R6M4 530 59619 8.5 0 Nucleus;Endoplasmic reticulum NA PE1 8 +NX_Q6RFH5 385 42441 8.64 0 Nucleolus;Nucleus NA PE1 11 +NX_Q6RFH8 374 39442 11.11 0 Nucleus NA PE1 4 +NX_Q6RI45 1802 203598 8.02 0 Cytosol;Nucleoplasm Mental retardation, X-linked 93 PE1 X +NX_Q6RSH7 139 15781 6.41 0 NA NA PE1 1 +NX_Q6RUI8 117 13085 8.49 0 Cell membrane NA PE2 19 +NX_Q6RVD6 105 11727 10.09 0 NA NA PE1 15 +NX_Q6RW13 159 17419 5.71 3 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Golgi apparatus membrane NA PE1 1 +NX_Q6S545 545 60965 7 0 NA NA PE1 22 +NX_Q6S5H5 508 57096 6.66 0 NA NA PE2 14 +NX_Q6S5L8 630 68785 8.03 0 Cytosol;Postsynaptic cell membrane NA PE1 15 +NX_Q6S8J3 1075 121363 5.83 0 NA NA PE1 2 +NX_Q6S8J7 498 56166 6.01 0 NA NA PE2 8 +NX_Q6S9Z5 364 40315 9.59 0 NA NA PE2 5 +NX_Q6SA08 328 37454 8.78 0 Flagellum;Cell junction;Acrosome NA PE1 14 +NX_Q6SJ93 734 84674 8.83 0 Cytosol;Nucleus Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis PE1 11 +NX_Q6SJ96 375 41524 6.05 0 Cytoplasm;Nucleus NA PE1 14 +NX_Q6SPF0 538 56052 7.13 0 Cytosol;Cytoplasm;Mitochondrion;Secreted NA PE1 19 +NX_Q6STE5 483 55016 9.38 0 Nucleoplasm;Nucleus NA PE1 7 +NX_Q6SZW1 724 79388 6.14 0 Cytoplasmic vesicle;Synapse;Cytoplasm;Axon;Dendrite;Mitochondrion NA PE1 17 +NX_Q6T310 242 27006 9.05 0 Nucleolus;Nucleus NA PE1 13 +NX_Q6T311 187 20755 6.04 0 Mitochondrion;Nucleolus NA PE1 4 +NX_Q6T423 547 61008 7.53 12 Membrane NA PE2 11 +NX_Q6T4P5 718 76037 5.66 6 Cytosol;Nucleoplasm;Golgi apparatus;Membrane NA PE1 19 +NX_Q6T4R5 1651 179135 6.4 0 Apical cell membrane;Cytoplasm;Focal adhesion;Lamellipodium;Cell junction;Tight junction Cataract 40;Nance-Horan syndrome PE1 X +NX_Q6TCH4 344 37989 8.22 7 Nucleolus;Nucleus;Cell membrane NA PE1 1 +NX_Q6TCH7 311 36217 8.84 7 Golgi apparatus membrane NA PE1 4 +NX_Q6TDP4 642 69874 7.64 0 Nucleoplasm;Postsynaptic density;Synapse;Nucleus NA PE1 1 +NX_Q6TDU7 716 83160 5.22 0 NA NA PE1 12 +NX_Q6TFL3 1326 152810 6.37 0 Nucleus NA PE1 9 +NX_Q6TFL4 600 68361 5.98 0 Axon;Cytoplasm;Desmosome;Perikaryon;Adherens junction Epidermolysis bullosa simplex, generalized, with scarring and hair loss PE1 3 +NX_Q6TGC4 694 77727 5.13 0 Cytoplasm;Nucleus Preimplantation embryonic lethality 2 PE1 1 +NX_Q6U736 354 39727 9.11 7 Membrane NA PE1 6 +NX_Q6U7Q0 402 46941 8.98 0 Cytosol;Cytoplasm;Nucleus;Centrosome NA PE1 6 +NX_Q6U841 1118 125946 6.05 12 Cell membrane NA PE1 2 +NX_Q6U949 168 18035 12.13 0 NA NA PE2 11 +NX_Q6UB28 335 37088 6.35 0 Cytoplasmic vesicle;Mitochondrion NA PE1 2 +NX_Q6UB35 978 105790 8.32 0 Mitochondrion NA PE1 6 +NX_Q6UB98 2062 235652 6.57 0 Cytosol;Nucleoplasm;Nucleus NA PE1 18 +NX_Q6UB99 2663 297913 6.7 0 Nucleoplasm;Cytosol;Nucleus KBG syndrome PE1 16 +NX_Q6UDR6 99 11421 9.4 0 Secreted NA PE2 20 +NX_Q6UE05 265 29433 7.67 3 Cytoplasmic vesicle;Membrane NA PE1 7 +NX_Q6ULP2 936 102113 4.4 0 Cytoplasmic vesicle;Cytoplasm;Cytosol;Golgi apparatus NA PE1 2 +NX_Q6UN15 594 66526 5.42 0 Nucleoplasm;Nucleus NA PE1 4 +NX_Q6UQ28 207 23385 5.01 0 Apical cell membrane NA PE2 11 +NX_Q6URK8 271 30717 9.09 0 Secreted NA PE1 16 +NX_Q6UUV7 619 66959 6.35 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 15 +NX_Q6UUV9 634 67300 5.65 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane;Cytoplasm NA PE1 19 +NX_Q6UVJ0 657 74397 7.26 0 Centriole;Cytosol;Centrosome;Microtubule organizing center Microcephaly 14, primary, autosomal recessive PE1 1 +NX_Q6UVK1 2322 250537 5.27 1 Cell surface;Apical cell membrane;Nucleus;Lamellipodium membrane;Cell membrane NA PE1 15 +NX_Q6UVM3 1135 130501 6.97 6 Cytoplasmic vesicle;Cell membrane Epileptic encephalopathy, early infantile, 57 PE1 1 +NX_Q6UVW9 174 19972 8.75 1 Cell membrane NA PE1 12 +NX_Q6UVY6 613 69652 5.97 1 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane NA PE1 6 +NX_Q6UW01 205 21521 6.58 0 Synapse;Nucleus;cis-Golgi network;Endoplasmic reticulum;Secreted NA PE1 14 +NX_Q6UW02 462 52432 5.84 1 Cytoskeleton;Cell junction;Cell membrane;Membrane NA PE1 2 +NX_Q6UW10 78 8396 7.01 0 Secretory vesicle;Golgi apparatus;Secreted NA PE1 6 +NX_Q6UW15 175 19330 6.7 0 Cytoplasm;Secreted NA PE1 2 +NX_Q6UW32 110 12363 8.22 0 Secreted NA PE1 19 +NX_Q6UW49 350 38931 5.53 0 Acrosome NA PE1 15 +NX_Q6UW56 229 24747 6.95 1 Nucleus envelope;Cell membrane NA PE1 2 +NX_Q6UW60 755 82795 8.67 1 Acrosome membrane;Membrane NA PE1 19 +NX_Q6UW63 502 58043 7.59 0 Endoplasmic reticulum lumen;Nucleus NA PE1 13 +NX_Q6UW68 189 21198 8.91 4 Nucleoplasm;Nucleus membrane;Endoplasmic reticulum;Membrane NA PE1 19 +NX_Q6UW78 93 10081 9.39 1 Cytosol;Mitochondrion;Mitochondrion inner membrane;Nucleoplasm Mitochondrial complex III deficiency, nuclear 9 PE1 11 +NX_Q6UW88 154 17091 6.5 1 Cytosol;Secreted;Nucleus;Nucleus membrane;Membrane NA PE1 4 +NX_Q6UWB1 636 69474 5.48 1 Membrane NA PE1 19 +NX_Q6UWB4 352 38856 7.49 1 Cytosol;Membrane NA PE1 8 +NX_Q6UWD8 224 24360 5.97 1 Membrane NA PE1 16 +NX_Q6UWE0 723 83594 5.7 0 Cytosol;Cytoplasm Charcot-Marie-Tooth disease 2P PE1 9 +NX_Q6UWE3 100 10812 8.85 0 Cytoplasmic vesicle;Secreted NA PE1 6 +NX_Q6UWF3 145 16618 5.21 1 Membrane NA PE1 17 +NX_Q6UWF5 114 12886 6.56 2 Membrane NA PE4 6 +NX_Q6UWF7 544 62263 9.03 0 Secreted NA PE1 11 +NX_Q6UWF9 173 19733 8.59 0 Secreted NA PE1 7 +NX_Q6UWH4 519 57552 9.75 1 Nucleoplasm;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA PE1 4 +NX_Q6UWH6 196 22538 6.56 5 Cytosol;Nucleoplasm;Membrane NA PE1 2 +NX_Q6UWI2 310 32289 4.59 1 Cytoplasmic vesicle;Endosome;Cytosol;Cell membrane;Endosome membrane;Nucleus;Golgi apparatus membrane NA PE1 4 +NX_Q6UWI4 295 31375 7.89 1 Endoplasmic reticulum membrane;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 13 +NX_Q6UWJ1 677 75598 6.47 10 Cytosol;Membrane NA PE1 13 +NX_Q6UWJ8 174 18403 6.63 1 Cytosol;Cell membrane;Membrane NA PE1 1 +NX_Q6UWK7 81 9173 10.54 0 Secreted NA PE1 10 +NX_Q6UWL2 747 82710 6.02 1 Nucleoplasm;Membrane NA PE1 9 +NX_Q6UWL6 708 75092 6.48 1 Cytoplasm;Nucleus;Cell membrane;Microtubule organizing center NA PE1 19 +NX_Q6UWM5 242 27151 8.57 0 Membrane raft;Cell membrane;Acrosome NA PE1 12 +NX_Q6UWM7 567 65088 8.17 1 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum NA PE1 15 +NX_Q6UWM9 527 60254 8.15 1 Membrane NA PE1 4 +NX_Q6UWN0 246 26763 8.76 0 Cell membrane NA PE1 19 +NX_Q6UWN5 251 26936 6.98 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 19 +NX_Q6UWN8 80 8585 8.74 0 Secreted NA PE1 5 +NX_Q6UWP2 260 28308 6.17 0 Cytosol;Golgi apparatus;Secreted NA PE1 17 +NX_Q6UWP7 414 48920 8.83 4 Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 2 +NX_Q6UWP8 590 60541 6.5 0 Cytoplasmic vesicle;Secreted NA PE1 19 +NX_Q6UWQ5 148 16654 8.35 0 Secreted NA PE2 10 +NX_Q6UWQ7 119 13248 7.4 0 Nucleoplasm;Cell membrane;Secreted NA PE2 19 +NX_Q6UWR7 440 50241 8.07 0 Cell membrane;Golgi apparatus NA PE1 4 +NX_Q6UWS5 81 9223 10.1 0 Mitochondrion NA PE1 20 +NX_Q6UWT2 76 7927 5.38 0 Secreted NA PE2 9 +NX_Q6UWT4 87 9693 4.67 0 Mitochondrion;Nucleus speckle;Secreted NA PE1 5 +NX_Q6UWU2 654 74158 9.01 0 Secreted NA PE1 2 +NX_Q6UWU4 347 39870 6.36 1 Cytoplasm;Nucleolus;Golgi apparatus membrane;Midbody NA PE1 6 +NX_Q6UWV2 235 25989 8.12 1 Golgi apparatus;Membrane NA PE1 11 +NX_Q6UWV6 458 51494 6.39 1 Cell membrane NA PE1 17 +NX_Q6UWV7 190 20306 4.94 2 Membrane NA PE2 1 +NX_Q6UWW0 184 20454 4.8 0 Secreted NA PE1 9 +NX_Q6UWW8 571 62282 5.41 0 Endoplasmic reticulum lumen;Endoplasmic reticulum;Nucleus membrane NA PE1 16 +NX_Q6UWW9 146 16116 4.95 1 Membrane NA PE1 3 +NX_Q6UWX4 724 80779 9.21 0 Mitochondrion;Cytosol;Secreted NA PE1 1 +NX_Q6UWY0 536 61450 9.02 0 Cytoplasmic vesicle;Nucleus;Secreted NA PE1 5 +NX_Q6UWY2 283 30334 9.56 0 Cytoplasmic granule lumen;Secreted NA PE1 19 +NX_Q6UWY5 402 45951 8.29 0 Secreted NA PE1 11 +NX_Q6UWZ7 409 46663 6.58 0 Nucleus Breast cancer PE1 4 +NX_Q6UX01 489 55209 8.39 9 Cell membrane NA PE1 12 +NX_Q6UX04 472 53847 5.6 0 Nucleoplasm;Nucleus Retinitis pigmentosa with or without skeletal anomalies PE1 5 +NX_Q6UX06 510 57280 5.5 0 Mitochondrion;Extracellular space NA PE1 13 +NX_Q6UX07 377 40849 7.63 0 Cytoplasmic vesicle;Secreted NA PE1 17 +NX_Q6UX15 382 43108 4.85 1 Cytosol;Membrane NA PE1 11 +NX_Q6UX27 236 26109 4.98 1 Cytoplasmic vesicle;Membrane;Secreted NA PE1 19 +NX_Q6UX34 121 12073 4.11 1 Cytoplasm;Extracellular matrix;Nucleus;Nucleolus;Membrane NA PE2 2 +NX_Q6UX39 209 21588 5.29 0 Secreted Amelogenesis imperfecta 3B PE1 4 +NX_Q6UX40 140 15503 6.05 4 Nucleoplasm;Midbody ring;Midbody;Cytosol;Membrane;Cilium Orofaciodigital syndrome 16;Meckel syndrome 13 PE1 17 +NX_Q6UX41 500 56748 8.38 1 Membrane NA PE1 5 +NX_Q6UX46 152 16915 9.75 0 Secreted NA PE1 2 +NX_Q6UX52 265 29091 8.93 0 Secreted NA PE1 17 +NX_Q6UX53 244 27775 8.71 0 Cytoplasmic vesicle;Cytoskeleton NA PE1 12 +NX_Q6UX65 266 29766 8.2 6 Photoreceptor inner segment;Cytoplasmic vesicle;Lysosome membrane;Apical cell membrane;Golgi apparatus Cone-rod dystrophy 21 PE1 1 +NX_Q6UX68 686 75014 6.21 5 Membrane NA PE1 8 +NX_Q6UX71 529 59583 5.99 1 Nucleus;Membrane NA PE1 10 +NX_Q6UX72 402 43751 9.33 1 Nucleolus;Golgi apparatus membrane;Golgi apparatus NA PE1 16 +NX_Q6UX73 402 45391 5.82 0 Secreted NA PE1 16 +NX_Q6UX82 237 25265 5.48 0 Cell membrane;Secreted NA PE1 1 +NX_Q6UX98 284 30176 9.01 5 Cytoplasmic vesicle;Cytosol;Membrane NA PE1 11 +NX_Q6UXA7 325 34195 7.88 0 Extracellular matrix NA PE1 6 +NX_Q6UXB0 335 36108 4.49 0 Nucleolus;Nucleus;Secreted NA PE2 3 +NX_Q6UXB1 125 14198 8.97 0 Secreted NA PE1 19 +NX_Q6UXB2 119 13819 10.97 0 Secreted NA PE1 19 +NX_Q6UXB3 125 13115 5.69 0 Cell membrane NA PE2 8 +NX_Q6UXB4 293 32562 6.15 1 Cell membrane NA PE1 19 +NX_Q6UXB8 463 49471 5.24 0 Secreted NA PE1 6 +NX_Q6UXC1 1216 131499 5.66 1 Cytosol;Nucleoplasm;Membrane NA PE1 9 +NX_Q6UXD1 115 13183 12.13 1 Nucleoplasm;Membrane NA PE2 9 +NX_Q6UXD5 910 97560 4.8 1 Endoplasmic reticulum membrane;Cell membrane NA PE1 16 +NX_Q6UXD7 560 58427 6.45 12 Membrane NA PE1 4 +NX_Q6UXE8 466 52251 5.84 1 Membrane NA PE1 5 +NX_Q6UXF1 575 59948 9.62 2 Axon;Endosome membrane;Nucleolus;Cytosol;Early endosome;Cell membrane;Cytoplasmic vesicle;Dendrite;Membrane;Postsynaptic density NA PE1 3 +NX_Q6UXF7 455 50490 8.39 0 Endosome;Endoplasmic reticulum;Golgi apparatus;Secreted NA PE2 16 +NX_Q6UXG2 1013 111382 6.13 1 Lysosome membrane;Late endosome membrane;trans-Golgi network membrane;Cell membrane NA PE1 1 +NX_Q6UXG3 332 36060 5.68 1 Apical cell membrane;Basolateral cell membrane;Multivesicular body membrane NA PE1 17 +NX_Q6UXG8 535 59716 6 1 Cytoplasmic vesicle;Nucleus membrane;Membrane NA PE1 5 +NX_Q6UXH0 198 22105 7.08 0 Nucleoplasm;Golgi apparatus;Secreted Diabetes mellitus, insulin-dependent;Diabetes mellitus, non-insulin-dependent PE1 19 +NX_Q6UXH1 353 38192 4.5 0 Endoplasmic reticulum;Secreted NA PE1 22 +NX_Q6UXH8 406 44103 7.74 0 Cytosol;Cell membrane;Secreted Hennekam lymphangiectasia-lymphedema syndrome 1 PE1 18 +NX_Q6UXH9 720 80199 7.57 0 Secreted NA PE1 11 +NX_Q6UXI7 678 73930 9.29 0 Extracellular matrix NA PE1 2 +NX_Q6UXI9 565 61907 8.74 0 Cytosol;Nucleus;Cell junction;Extracellular matrix NA PE1 4 +NX_Q6UXK2 745 78990 5.17 1 Cell membrane NA PE1 15 +NX_Q6UXK5 716 80716 5.77 1 Membrane NA PE1 3 +NX_Q6UXL0 311 35076 4.98 1 Cytosol;Cytoplasmic vesicle;Membrane NA PE1 3 +NX_Q6UXM1 1119 123434 5.79 1 Cytosol;Cytoplasmic vesicle membrane;Cell membrane NA PE1 12 +NX_Q6UXN2 200 21924 8.87 0 Secreted NA PE2 6 +NX_Q6UXN7 152 17700 8.87 1 Mitochondrion outer membrane NA PE1 14 +NX_Q6UXN8 241 27324 6.42 1 Membrane NA PE1 12 +NX_Q6UXN9 313 35079 7.59 0 Nucleolus;Nucleus NA PE1 3 +NX_Q6UXP3 125 13608 8.46 2 Membrane NA PE5 3 +NX_Q6UXP7 276 31367 5.6 0 Cytosol NA PE1 5 +NX_Q6UXP9 181 19777 9.67 0 NA NA PE5 15 +NX_Q6UXQ4 117 13321 9.57 0 Secreted NA PE3 2 +NX_Q6UXQ8 127 13410 11.87 0 Secreted NA PE5 15 +NX_Q6UXR4 307 34864 5.95 0 Secreted NA PE5 14 +NX_Q6UXR6 183 19530 6.19 0 Secreted NA PE5 9 +NX_Q6UXR8 122 12794 7.65 0 NA NA PE5 19 +NX_Q6UXS0 136 15448 6.17 0 Secreted NA PE2 16 +NX_Q6UXS9 341 38907 5.63 0 NA NA PE1 11 +NX_Q6UXT8 129 14269 10.6 0 Secreted NA PE1 8 +NX_Q6UXT9 468 51771 7.57 0 Cytosol;Nucleoplasm;Secreted NA PE1 17 +NX_Q6UXU0 137 14541 10.84 0 Secreted NA PE2 19 +NX_Q6UXU4 331 36774 6.59 4 Synapse;Cell membrane NA PE1 16 +NX_Q6UXU6 159 17229 5.48 1 Nucleoplasm;Membrane NA PE1 17 +NX_Q6UXV0 394 44518 8.28 1 Cell membrane NA PE1 6 +NX_Q6UXV1 221 24856 9.07 1 Membrane NA PE1 19 +NX_Q6UXV3 157 16883 5.18 0 Secreted NA PE2 22 +NX_Q6UXV4 268 29159 9.55 2 Mitochondrion;Mitochondrion inner membrane NA PE1 X +NX_Q6UXX5 1313 143187 9.1 0 Secreted NA PE1 X +NX_Q6UXX9 243 28315 9.42 0 Secreted Humerofemoral hypoplasia with radiotibial ray deficiency;Tetraamelia syndrome 2 PE1 8 +NX_Q6UXY1 529 58987 9.53 0 Cytoplasmic vesicle membrane;Cell junction;Cell membrane NA PE1 22 +NX_Q6UXY8 1006 114797 8.46 10 Nucleus;Cell membrane;Membrane NA PE1 16 +NX_Q6UXZ0 262 29185 8.07 1 Mitochondrion;Cytoplasm;Cell membrane NA PE1 17 +NX_Q6UXZ3 194 21558 9.12 1 Cell membrane NA PE1 17 +NX_Q6UXZ4 953 105880 5.71 1 Cell membrane NA PE1 8 +NX_Q6UY01 552 61489 5.71 0 NA NA PE1 3 +NX_Q6UY09 596 65808 5.49 1 Microvillus membrane;Apical cell membrane NA PE2 19 +NX_Q6UY11 383 40548 6.09 1 Nucleus;Membrane NA PE1 6 +NX_Q6UY13 95 10734 9.78 0 Secreted NA PE3 2 +NX_Q6UY14 1074 116545 8.79 0 Cytosol;Cell membrane;Extracellular matrix Ectopia lentis 2, isolated, autosomal recessive;Ectopia lentis et pupillae PE1 1 +NX_Q6UY18 593 63774 8.53 1 Membrane NA PE2 1 +NX_Q6UY27 113 13015 6.91 0 Secreted NA PE1 11 +NX_Q6UYE1 221 23924 7.77 0 NA NA PE2 13 +NX_Q6V0I7 4981 542687 4.77 1 Cytosol;Membrane Hennekam lymphangiectasia-lymphedema syndrome 2;Van Maldergem syndrome 2 PE1 4 +NX_Q6V0L0 522 57111 9.24 1 Membrane Focal facial dermal dysplasia 4 PE1 10 +NX_Q6V1P9 2916 322234 4.63 1 Cytoplasmic vesicle;Cell membrane;Membrane NA PE1 4 +NX_Q6V1X1 898 103358 5.52 0 Cytosol;Cytoplasm NA PE1 15 +NX_Q6V702 233 26869 5.28 0 Cytosol;Cell membrane NA PE1 4 +NX_Q6V9R5 426 48563 8.76 0 Nucleus NA PE1 19 +NX_Q6VAB6 950 107632 8.95 0 Cytoplasm;Membrane NA PE1 12 +NX_Q6VB84 417 45820 9.82 0 Nucleus NA PE2 9 +NX_Q6VEQ5 465 50312 5.53 0 Centriole;Recycling endosome membrane;Early endosome membrane;Late endosome;Autophagosome NA PE2 2 +NX_Q6VMQ6 1270 136394 4.58 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q6VN20 620 67257 6.29 0 Cytosol;Nucleus NA PE1 16 +NX_Q6VUC0 442 46212 8.64 0 Nucleus NA PE2 1 +NX_Q6VVB1 395 42293 6.99 0 Cytoplasmic vesicle;Nucleus;Endoplasmic reticulum Epilepsy, progressive myoclonic 2 PE1 6 +NX_Q6VVX0 501 57359 7.25 0 Endoplasmic reticulum membrane;Microsome membrane Rickets vitamin D-dependent 1B PE1 11 +NX_Q6VY07 963 104898 7.6 0 Cytosol;Cytoskeleton;trans-Golgi network Schuurs-Hoeijmakers syndrome PE1 11 +NX_Q6W0C5 159 17851 8.86 0 Cytoplasm;Nucleus NA PE1 12 +NX_Q6W2J9 1755 192189 6.06 0 Nucleus Microphthalmia, syndromic, 2 PE1 X +NX_Q6W349 94 10157 5.34 0 NA NA PE5 4 +NX_Q6W3E5 623 71996 9.16 6 Membrane NA PE2 11 +NX_Q6W4X9 2439 257051 7.22 0 Secreted NA PE1 11 +NX_Q6W5P4 371 42687 8.63 7 Cytoplasm;Cell membrane Asthma-related traits 2 PE1 7 +NX_Q6WBX8 426 47832 6.47 0 NA NA PE1 12 +NX_Q6WCQ1 1025 116533 5.89 0 Cytosol;Cytoskeleton NA PE1 17 +NX_Q6WKZ4 1283 137167 5.3 0 Cytoplasmic vesicle;Phagosome membrane;Recycling endosome NA PE1 8 +NX_Q6WN34 429 47495 8.23 0 Mitochondrion;Cytoplasm;Secreted NA PE1 11 +NX_Q6WQI6 88 10305 8.04 0 Cytoplasm;Golgi apparatus NA PE5 11 +NX_Q6WRI0 2623 290838 9.25 0 Nucleoplasm;Cytoskeleton;Secreted NA PE1 3 +NX_Q6WRX3 759 85808 8.3 0 Nucleus NA PE1 1 +NX_Q6X4T0 127 14485 8.66 0 NA NA PE2 12 +NX_Q6X4U4 206 23307 9.81 0 Secreted NA PE1 7 +NX_Q6X4W1 530 60143 9.19 0 Nucleus matrix;Synaptosome;Synapse;Nucleus membrane;Nucleoplasm;Cytoplasm;Cell cortex;Nucleus envelope;Cell membrane;Dendrite;Nucleus;Membrane;Postsynaptic density;Cytoskeleton Hypogonadotropic hypogonadism 9 with or without anosmia PE1 9 +NX_Q6X784 338 38652 8.04 0 Acrosome;Secreted NA PE1 17 +NX_Q6X9E4 464 53056 7.85 0 NA NA PE1 3 +NX_Q6XCG6 107 11455 7.94 0 NA NA PE4 1 +NX_Q6XD76 172 19253 9.23 0 Nucleus NA PE1 12 +NX_Q6XE24 437 47840 8.12 0 Cytoplasmic vesicle;Cytoplasm NA PE1 3 +NX_Q6XE38 83 9201 9.14 0 Secreted NA PE1 11 +NX_Q6XLA1 102 11902 8.53 0 NA NA PE2 10 +NX_Q6XPR3 784 90731 6.42 0 Extracellular matrix NA PE1 1 +NX_Q6XPS3 522 61112 8.8 3 Endoplasmic reticulum membrane;Cytoplasm NA PE1 13 +NX_Q6XQN6 538 57578 5.51 0 Cytosol;Nucleus;Golgi apparatus NA PE1 8 +NX_Q6XR72 485 52684 6.28 6 Recycling endosome;trans-Golgi network;Cell membrane;Early endosome Hypermanganesemia with dystonia 1 PE1 1 +NX_Q6XUX3 929 105206 6.29 0 Nucleus speckle;Apical cell membrane;Basolateral cell membrane;Cytoplasm;Cell membrane;Cytoskeleton;Cell junction Congenital anomalies of the kidney and urinary tract 1;Spastic paraplegia 23 PE1 1 +NX_Q6XXX2 140 15753 9.79 0 NA NA PE5 21 +NX_Q6XYB7 198 21482 8.95 0 Nucleus;Midbody NA PE2 2 +NX_Q6XYQ8 523 59127 7.57 1 Nucleoplasm;Cytoplasmic vesicle;Secretory vesicle membrane NA PE1 12 +NX_Q6XZB0 460 52922 9.18 0 Membrane;Secreted Hypertriglyceridemia, familial PE1 21 +NX_Q6XZF7 1577 177347 5.26 0 Synapse;Nucleolus;Golgi apparatus;Cytosol;Cytoplasm;Nucleus;Golgi stack;Cytoskeleton NA PE1 10 +NX_Q6Y1H2 254 28368 9.56 6 Endoplasmic reticulum membrane NA PE1 3 +NX_Q6Y288 498 56564 7.23 1 Endoplasmic reticulum membrane Peters-plus syndrome PE1 13 +NX_Q6Y2X3 702 78569 8.37 3 Endoplasmic reticulum membrane NA PE1 12 +NX_Q6Y7W6 1299 150070 5.45 0 Cytosol Parkinson disease 11 PE1 2 +NX_Q6YBV0 504 56157 6.6 10 Cytosol;Cell membrane;Golgi apparatus;Membrane NA PE1 11 +NX_Q6YFQ2 88 10529 9.21 0 Cytosol;Nucleoplasm;Cell membrane;Mitochondrion intermembrane space NA PE1 19 +NX_Q6YHK3 1445 161689 5.59 0 Cell membrane;Endoplasmic reticulum NA PE1 6 +NX_Q6YHU6 1953 219607 5.71 0 Cytosol NA PE1 2 +NX_Q6YI46 380 39665 8.78 6 Endoplasmic reticulum;Membrane NA PE1 8 +NX_Q6YN16 418 45395 8.07 0 Mitochondrion;Peroxisome NA PE1 9 +NX_Q6YP21 454 51400 8.4 0 Cytosol;Nucleolus NA PE1 1 +NX_Q6ZMB0 384 42748 7.65 1 Golgi apparatus membrane NA PE1 11 +NX_Q6ZMB5 413 45777 8.4 7 Endosome;Nucleoplasm;Early endosome membrane;Cell membrane;Perinuclear region;Cytoplasmic vesicle membrane;Secretory vesicle membrane NA PE1 7 +NX_Q6ZMC9 328 35653 8.86 1 Nucleoplasm;Golgi apparatus;Membrane NA PE1 18 +NX_Q6ZMD2 512 54769 6.14 12 Membrane NA PE1 17 +NX_Q6ZMG9 384 44890 7.56 5 Endoplasmic reticulum membrane;Nucleus;Nucleus membrane NA PE1 2 +NX_Q6ZMH5 540 56461 6.33 6 Cytosol;Cytoplasmic vesicle;Basolateral cell membrane;Nucleoplasm Myopia 24, autosomal dominant PE1 12 +NX_Q6ZMI0 780 88314 6.4 0 Cytoplasmic vesicle NA PE1 2 +NX_Q6ZMI3 551 58957 8.1 1 Axon;Secreted;Cell membrane;Extracellular matrix Lethal congenital contracture syndrome 11 PE1 15 +NX_Q6ZMJ2 495 53994 6.65 1 Cell membrane NA PE1 8 +NX_Q6ZMJ4 242 27482 6.82 0 Secreted NA PE1 16 +NX_Q6ZMK1 362 40703 6.87 0 Nucleoplasm;Cytoplasm;Perinuclear region NA PE1 8 +NX_Q6ZMM2 481 53193 8.59 0 Secreted;Golgi apparatus;Extracellular matrix NA PE1 19 +NX_Q6ZMN7 1036 117103 5.61 0 NA NA PE1 12 +NX_Q6ZMN8 369 40622 8.07 0 Cytosol;Nucleoplasm;Golgi apparatus NA PE1 5 +NX_Q6ZMP0 1018 112450 7.94 0 Nucleolus;Nucleus;Extracellular matrix NA PE1 15 +NX_Q6ZMQ8 1374 144569 4.48 1 Mitochondrion;Cytoplasm;Perinuclear region;Membrane NA PE1 17 +NX_Q6ZMR3 332 36507 6.51 0 Cytoplasm NA PE1 11 +NX_Q6ZMR5 421 47569 9.32 1 Membrane NA PE1 4 +NX_Q6ZMS4 543 62084 8.45 0 Nucleus NA PE1 3 +NX_Q6ZMS7 281 31422 4.9 0 Cytosol;Nucleus;Cell membrane NA PE1 7 +NX_Q6ZMT1 411 45009 7.03 0 Cytosol;Cytoplasmic vesicle;Cell membrane;Sarcolemma;Nucleoplasm NA PE1 17 +NX_Q6ZMT4 941 106557 8.34 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 7 +NX_Q6ZMT9 781 88329 6.81 0 NA NA PE2 4 +NX_Q6ZMU1 363 40197 6.32 0 NA NA PE5 19 +NX_Q6ZMU5 477 52731 6.05 0 Cytoplasmic vesicle membrane;Nucleolus;Nucleus;Sarcolemma NA PE1 16 +NX_Q6ZMV5 832 95804 4.72 0 NA NA PE1 X +NX_Q6ZMV7 388 45158 6.29 0 NA NA PE2 3 +NX_Q6ZMV8 503 59040 9.48 0 Nucleus NA PE2 19 +NX_Q6ZMV9 814 92569 6.47 0 Cytoskeleton;Centrosome NA PE1 6 +NX_Q6ZMW2 699 80904 9.21 0 Mitochondrion;Nucleus NA PE1 9 +NX_Q6ZMW3 1958 217899 7.17 0 Mitochondrion;Cytoplasmic vesicle;Cytoskeleton NA PE1 2 +NX_Q6ZMY3 1216 130027 6.82 0 Cytosol;Nucleolus;Nucleus NA PE1 1 +NX_Q6ZMY6 472 52621 6.98 0 Nucleoplasm;Golgi apparatus NA PE1 19 +NX_Q6ZMY9 492 54711 9.26 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q6ZMZ0 732 77925 5.81 2 Endoplasmic reticulum membrane;Cytosol;Cytoplasmic granule membrane NA PE1 1 +NX_Q6ZMZ3 975 112216 5.88 1 Rough endoplasmic reticulum;Nucleus envelope;Nucleus membrane;Nucleus outer membrane NA PE1 14 +NX_Q6ZN01 415 44632 6.57 0 Nucleus speckle;Nucleus NA PE2 19 +NX_Q6ZN03 302 32374 9.1 0 NA NA PE5 21 +NX_Q6ZN04 569 58832 6.44 0 P-body;Cytoplasmic granule;Cytosol;Cytoplasm;Nucleoplasm;Nucleus NA PE1 15 +NX_Q6ZN06 617 71721 9.5 0 Nucleus NA PE1 19 +NX_Q6ZN08 573 65874 9.46 0 Nucleus NA PE5 19 +NX_Q6ZN11 406 46927 9.48 0 Cytosol;Nucleolus;Nucleus NA PE2 19 +NX_Q6ZN16 1313 147437 5.42 0 Cytoplasmic vesicle NA PE1 X +NX_Q6ZN17 250 27084 9.15 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 6 +NX_Q6ZN18 517 54467 5.1 0 Nucleus NA PE1 12 +NX_Q6ZN19 808 93148 9.48 0 Nucleus NA PE1 19 +NX_Q6ZN28 852 96639 6.43 0 Mitochondrion;Cytoplasm;Nucleus NA PE1 7 +NX_Q6ZN30 1099 122330 6.07 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q6ZN32 361 39948 9 0 Nucleus NA PE2 1 +NX_Q6ZN44 842 92932 6.33 1 Cytosol;Cell projection;Membrane raft;Cell membrane NA PE1 5 +NX_Q6ZN54 512 58710 6.09 0 Nucleoplasm;Cytosol NA PE1 16 +NX_Q6ZN55 896 98900 8.44 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q6ZN57 461 52740 8.91 0 Nucleus NA PE1 5 +NX_Q6ZN66 633 72427 5.98 0 NA NA PE1 1 +NX_Q6ZN68 376 43060 8.74 6 Endoplasmic reticulum;Membrane NA PE5 7 +NX_Q6ZN79 300 34734 9.36 0 Nucleus NA PE2 12 +NX_Q6ZN84 652 76084 9.25 0 Centrosome;Cell membrane NA PE1 11 +NX_Q6ZN92 141 15492 7.06 0 NA NA PE5 9 +NX_Q6ZNA1 936 107717 9.39 0 Nucleus NA PE1 19 +NX_Q6ZNA4 994 108862 6.67 0 Cytosol;PML body;Nucleus;Cytoplasm NA PE1 15 +NX_Q6ZNA5 592 66114 7.11 7 Membrane NA PE1 1 +NX_Q6ZNB5 142 15763 8.53 0 Nucleolus NA PE5 11 +NX_Q6ZNB6 911 101339 8.85 1 Nucleoplasm;Membrane NA PE1 4 +NX_Q6ZNB7 445 51500 7.75 5 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA PE1 7 +NX_Q6ZNC4 412 45276 8.8 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q6ZNC8 495 56557 9.33 9 Mitochondrion;Membrane NA PE1 6 +NX_Q6ZNE5 492 55309 6.59 0 Endoplasmic reticulum membrane;Autophagosome membrane;Preautophagosomal structure membrane;Cytoplasm NA PE1 14 +NX_Q6ZNE9 571 64350 6.44 0 Autophagosome NA PE1 2 +NX_Q6ZNF0 438 50480 9.3 0 Secreted NA PE1 19 +NX_Q6ZNG0 422 48503 8.64 0 Nucleus;Centrosome NA PE1 3 +NX_Q6ZNG1 722 83124 9.4 0 Nucleus NA PE1 19 +NX_Q6ZNG2 339 36555 9.47 0 Nucleus NA PE2 12 +NX_Q6ZNG9 492 56205 5.67 0 Nucleoplasm NA PE1 17 +NX_Q6ZNH5 498 54721 9.27 0 Nucleus;Cell junction NA PE1 19 +NX_Q6ZNI0 430 49319 8.93 1 Golgi apparatus membrane NA PE2 20 +NX_Q6ZNJ1 2754 302517 5.95 0 Endoplasmic reticulum Gray platelet syndrome PE1 3 +NX_Q6ZNK6 161 17888 6.96 0 NA NA PE1 5 +NX_Q6ZNL6 1462 159891 4.93 0 Cytoskeleton;Golgi apparatus;Endoplasmic reticulum;Ruffle membrane;Early endosome NA PE1 3 +NX_Q6ZNM6 134 15452 9.3 0 NA NA PE1 5 +NX_Q6ZNQ3 347 39592 8.89 0 Cell membrane NA PE1 8 +NX_Q6ZNR0 172 18162 4.96 2 Membrane NA PE2 19 +NX_Q6ZNW5 385 42362 6.01 0 Cytosol;Cytoplasm NA PE1 15 +NX_Q6ZNX1 250 28842 9.18 0 Nucleoplasm;Nucleolus;Chromosome NA PE1 5 +NX_Q6ZP01 1051 117985 5.48 0 Cytoplasm NA PE1 2 +NX_Q6ZP29 291 31947 8.23 7 Cytoplasmic vesicle;Lysosome membrane NA PE1 1 +NX_Q6ZP65 573 64841 4.93 0 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Centrosome NA PE1 12 +NX_Q6ZP68 121 13416 8.66 0 NA NA PE2 13 +NX_Q6ZP80 229 25879 6.42 3 Cytoplasmic vesicle;Nucleoplasm;Membrane NA PE1 2 +NX_Q6ZP82 1450 166261 5.41 0 Nucleoplasm;Cytoplasm;Centrosome NA PE1 2 +NX_Q6ZP98 133 14599 10.17 0 NA NA PE2 16 +NX_Q6ZPA2 131 13472 6.7 0 NA NA PE2 19 +NX_Q6ZPB5 146 16112 8.99 2 Membrane NA PE1 6 +NX_Q6ZPD8 337 38593 9.87 2 Endoplasmic reticulum membrane NA PE2 X +NX_Q6ZPD9 716 83197 8.94 12 Cytoskeleton;Membrane NA PE1 19 +NX_Q6ZQN5 318 32979 8.93 0 Nucleus NA PE2 10 +NX_Q6ZQN7 724 78948 7.67 12 Basolateral cell membrane NA PE1 5 +NX_Q6ZQQ2 1576 175618 9.07 1 Membrane NA PE1 9 +NX_Q6ZQQ6 2873 333185 6.94 0 NA NA PE1 19 +NX_Q6ZQR2 320 36499 10.26 0 Cytosol;Cilium NA PE1 9 +NX_Q6ZQT0 140 15498 7.4 0 NA NA PE5 4 +NX_Q6ZQT7 251 25248 10.23 0 NA NA PE2 10 +NX_Q6ZQV5 82 9552 4.56 0 Nucleus NA PE5 19 +NX_Q6ZQW0 420 47075 6.39 0 NA NA PE1 8 +NX_Q6ZQX7 453 49656 7.79 0 Cytosol;Nucleolus NA PE1 17 +NX_Q6ZQY2 392 41621 5.01 0 NA NA PE2 22 +NX_Q6ZQY3 521 59246 5.98 0 Cytosol;Cell membrane NA PE1 3 +NX_Q6ZQY7 126 14345 9.3 0 NA NA PE2 15 +NX_Q6ZR03 302 31336 7.13 0 NA NA PE2 21 +NX_Q6ZR08 3092 356942 5.85 0 Cilium axoneme NA PE1 3 +NX_Q6ZR37 379 44301 8.55 0 NA NA PE2 12 +NX_Q6ZR52 646 75342 9.44 0 Nucleus NA PE1 19 +NX_Q6ZR54 194 19406 10.93 0 NA NA PE5 22 +NX_Q6ZR62 310 34685 5.5 0 Cytosol;Nucleus;Cell membrane NA PE2 X +NX_Q6ZR85 190 19931 6.91 0 Nucleus NA PE2 17 +NX_Q6ZR98 269 28560 9.17 0 Secreted NA PE5 3 +NX_Q6ZRC1 276 30622 5.57 0 NA NA PE2 4 +NX_Q6ZRF7 136 15513 10.24 0 Nucleus NA PE5 19 +NX_Q6ZRF8 634 70861 6.21 0 Cytosol;Cytoplasm NA PE1 1 +NX_Q6ZRG5 221 24122 4.39 0 NA NA PE5 17 +NX_Q6ZRH7 1159 133032 5.95 1 Cytosol;Nucleolus;Nucleus;Membrane NA PE1 19 +NX_Q6ZRI0 2925 314794 5.57 0 Extracellular space;Apical cell membrane Deafness, autosomal recessive, 18B PE1 11 +NX_Q6ZRI6 1047 110673 7.72 0 Cytosol NA PE1 15 +NX_Q6ZRI8 547 61664 9.48 0 Cytoplasmic vesicle;Nucleus;Cell membrane NA PE1 X +NX_Q6ZRK6 1079 124154 5.42 0 NA NA PE1 11 +NX_Q6ZRM9 215 21770 9.15 0 NA NA PE2 7 +NX_Q6ZRN7 208 21161 11.78 0 NA NA PE2 16 +NX_Q6ZRP0 262 27805 4.48 0 NA NA PE2 3 +NX_Q6ZRP5 223 25262 11.34 0 NA NA PE5 4 +NX_Q6ZRP7 698 77529 7.64 1 Nucleus membrane;Golgi apparatus;Secreted;Nucleoplasm;Cell membrane;Membrane NA PE1 9 +NX_Q6ZRQ5 1243 142321 6.72 0 Nucleoplasm;Nucleus NA PE1 6 +NX_Q6ZRR5 245 27859 8.83 6 Cytosol;Cytoplasmic vesicle;Membrane NA PE2 11 +NX_Q6ZRR7 1453 166911 7.66 0 NA NA PE2 14 +NX_Q6ZRR9 648 72753 9.05 0 Spindle;Midbody ring;Midbody NA PE1 11 +NX_Q6ZRS2 3230 343555 5.69 0 Nucleoplasm;Cytoplasm;Nucleus Floating-Harbor syndrome PE1 16 +NX_Q6ZRS4 1044 115403 5.18 0 Nucleoplasm NA PE2 7 +NX_Q6ZRT6 265 28269 4.65 0 NA NA PE2 3 +NX_Q6ZRU5 148 16879 9.72 0 Secreted NA PE5 17 +NX_Q6ZRV2 1179 127122 6.52 0 Cytosol;Cytoskeleton Amelogenesis imperfecta 3A PE1 8 +NX_Q6ZRV3 163 16900 4.89 0 NA NA PE5 3 +NX_Q6ZRX8 168 18969 10.14 0 NA NA PE5 12 +NX_Q6ZRY4 209 22497 8.63 0 Cytoplasm NA PE1 15 +NX_Q6ZRZ4 202 22306 10.08 0 Secreted NA PE2 9 +NX_Q6ZS02 220 23740 8.42 0 NA NA PE5 15 +NX_Q6ZS10 378 42935 4.6 1 Membrane NA PE1 19 +NX_Q6ZS11 566 62466 5.59 0 Cytoplasmic vesicle;Nucleoplasm;Ruffle NA PE1 19 +NX_Q6ZS17 1223 132308 5.87 0 Cytosol;Cytoplasm;Golgi apparatus NA PE1 16 +NX_Q6ZS27 426 48496 7.76 0 Nucleus NA PE1 3 +NX_Q6ZS30 2694 307237 6.01 0 Nucleoplasm;Cytosol NA PE1 2 +NX_Q6ZS46 218 22150 10.58 0 NA NA PE5 6 +NX_Q6ZS49 121 13061 9.78 0 NA NA PE5 17 +NX_Q6ZS52 159 17352 10.74 0 NA NA PE5 6 +NX_Q6ZS62 124 13401 4.47 1 Membrane NA PE2 11 +NX_Q6ZS72 473 50509 8.86 0 NA NA PE1 19 +NX_Q6ZS81 3184 353610 5.9 2 Cytosol;Nucleoplasm;Membrane NA PE1 10 +NX_Q6ZS82 235 25148 6.84 1 Membrane Prolonged electroretinal response suppression PE1 19 +NX_Q6ZS86 529 59156 6.48 0 Nucleoplasm;Cytosol NA PE1 3 +NX_Q6ZS92 163 18106 9.99 0 NA NA PE5 4 +NX_Q6ZS94 237 24356 11.59 0 NA NA PE2 1 +NX_Q6ZSA7 298 33009 5.55 1 Cell membrane NA PE1 11 +NX_Q6ZSA8 131 13825 11.82 0 NA NA PE5 19 +NX_Q6ZSB3 139 15654 7.82 0 NA NA PE5 2 +NX_Q6ZSB9 765 85061 6.52 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Nucleoplasm NA PE1 4 +NX_Q6ZSC3 357 40666 9.67 0 Nucleolus;Nucleus NA PE1 2 +NX_Q6ZSG1 346 39526 8.19 0 Nucleus;Cell membrane NA PE1 18 +NX_Q6ZSG2 479 52909 8.23 0 Postsynaptic density NA PE1 10 +NX_Q6ZSI9 719 81037 5.95 0 Nucleoplasm;Focal adhesion NA PE2 19 +NX_Q6ZSJ8 110 11471 6.29 0 NA NA PE1 1 +NX_Q6ZSJ9 500 55764 9.44 1 Postsynaptic density;Membrane NA PE1 17 +NX_Q6ZSK4 140 15188 9.61 0 NA NA PE5 11 +NX_Q6ZSM3 516 56498 8.64 12 Mitochondrion;Cell membrane Cataract 47 PE1 10 +NX_Q6ZSN1 163 16659 11.74 0 NA NA PE2 9 +NX_Q6ZSR3 168 17863 8.77 0 Mitochondrion NA PE5 15 +NX_Q6ZSR6 202 22955 6.09 0 NA NA PE2 16 +NX_Q6ZSR9 355 37976 5.14 0 NA NA PE1 2 +NX_Q6ZSS3 439 49205 9.16 0 Nucleus speckle;Nucleus NA PE1 3 +NX_Q6ZSS7 791 88088 5.35 12 Cytosol;Nucleoplasm;Cytoskeleton;Membrane NA PE1 2 +NX_Q6ZST2 131 14410 9.53 0 NA NA PE2 4 +NX_Q6ZST4 164 17784 8.42 0 NA NA PE2 9 +NX_Q6ZSU1 146 16683 6.27 0 NA NA PE5 19 +NX_Q6ZSV7 163 16907 8.74 0 NA NA PE2 6 +NX_Q6ZSY5 799 82798 4.5 1 Nucleoplasm;Membrane NA PE1 X +NX_Q6ZSZ5 1361 151642 5.98 0 Cytosol;Cytoplasm;Cytoskeleton;Apical cell membrane;Cell membrane Retinitis pigmentosa 78 PE1 19 +NX_Q6ZSZ6 1077 117916 6.62 0 Nucleoplasm;Nucleus Aural atresia, congenital PE1 18 +NX_Q6ZT07 1266 143229 5.18 0 Nucleoplasm;Cytosol NA PE1 4 +NX_Q6ZT12 1888 212433 5.74 3 Nucleolus;Nucleus;Membrane NA PE1 2 +NX_Q6ZT21 453 49453 6.43 5 Nucleoplasm;Mitochondrion;Membrane NA PE1 3 +NX_Q6ZT52 329 36776 10.36 0 Cytosol NA PE1 1 +NX_Q6ZT62 677 73599 5.13 0 Cytosol;Cell membrane NA PE1 22 +NX_Q6ZT77 177 20580 10.14 0 Nucleus NA PE5 19 +NX_Q6ZT83 130 14355 10.52 0 NA NA PE2 18 +NX_Q6ZT89 311 33440 8.95 6 Cytoskeleton;Mitochondrion inner membrane NA PE1 5 +NX_Q6ZT98 887 102999 9.36 0 Cytosol;Dendrite;Perikaryon;Cilium;Cilium basal body NA PE1 1 +NX_Q6ZTA4 783 83823 7.08 0 Cytoplasm;Cytoskeleton NA PE1 1 +NX_Q6ZTB9 187 21749 8.93 0 NA NA PE5 19 +NX_Q6ZTC4 211 22100 10.68 0 NA NA PE2 20 +NX_Q6ZTI0 123 12888 10 0 NA NA PE5 11 +NX_Q6ZTI6 216 23610 8.75 0 Nucleoplasm;Cytoskeleton;Golgi apparatus NA PE1 12 +NX_Q6ZTK2 550 61934 9.07 0 NA NA PE2 16 +NX_Q6ZTN6 518 58476 5.26 0 Mitochondrion;Late endosome;Nucleus;Cell membrane NA PE1 11 +NX_Q6ZTQ3 369 43384 8.79 0 Nucleoplasm;Golgi apparatus NA PE1 4 +NX_Q6ZTQ4 885 97977 5.26 1 Nucleolus;Cell membrane NA PE1 7 +NX_Q6ZTR5 3187 361625 7.55 0 NA NA PE1 X +NX_Q6ZTR6 163 17236 10.37 0 NA NA PE2 18 +NX_Q6ZTR7 304 34755 8.84 0 Centriole;Cilium basal body NA PE1 16 +NX_Q6ZTU2 488 51753 6.76 0 NA NA PE5 12 +NX_Q6ZTW0 290 31275 9.26 0 Flagellum axoneme;Axon;Dendrite;Cilium axoneme;Flagellum basal body;Centrosome;Cilium basal body NA PE1 19 +NX_Q6ZTY9 151 16773 9.48 0 NA NA PE2 7 +NX_Q6ZTZ1 278 31632 8.99 0 NA NA PE2 4 +NX_Q6ZU15 432 50025 5.87 0 Cytoplasm;Cytoskeleton NA PE1 7 +NX_Q6ZU35 1233 136760 5.5 0 Nucleoplasm;Golgi apparatus NA PE1 4 +NX_Q6ZU45 400 44255 6.37 0 NA NA PE2 1 +NX_Q6ZU52 694 79163 8.64 0 Cytosol;Nucleoplasm NA PE1 6 +NX_Q6ZU64 1925 217250 6.07 1 Flagellum membrane NA PE1 2 +NX_Q6ZU65 1347 146089 9.24 0 Nucleoplasm NA PE1 7 +NX_Q6ZU67 534 58375 5.75 0 Cytosol;Nucleolus;Nucleus NA PE1 4 +NX_Q6ZU69 1335 148096 8.62 1 Membrane NA PE1 9 +NX_Q6ZU80 1094 128015 6.11 0 Cytosol;Centriole;Microtubule organizing center;Centrosome;Spindle pole NA PE1 14 +NX_Q6ZUA9 1318 149091 7.63 0 NA NA PE2 8 +NX_Q6ZUB0 917 102306 8.2 1 Membrane NA PE2 9 +NX_Q6ZUB1 1445 157136 9.29 1 Membrane NA PE1 9 +NX_Q6ZUF6 198 20903 11.57 0 NA NA PE5 6 +NX_Q6ZUG5 572 66039 6.81 0 NA NA PE1 3 +NX_Q6ZUI0 275 31230 6.61 0 Nucleoplasm;Cytoplasm NA PE1 3 +NX_Q6ZUJ4 267 30194 5.36 0 Nucleus speckle NA PE1 3 +NX_Q6ZUJ8 805 90398 5.25 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 10 +NX_Q6ZUK4 368 41672 6.4 8 Membrane NA PE1 10 +NX_Q6ZUL3 223 24736 9.59 0 NA NA PE2 8 +NX_Q6ZUM4 889 98396 5.4 0 Cytosol;Cytoplasm;Nucleus;Membrane NA PE1 17 +NX_Q6ZUS5 278 33061 9.84 0 Cytosol;Cytoskeleton NA PE1 2 +NX_Q6ZUS6 474 52796 5.92 0 Nucleolus NA PE1 4 +NX_Q6ZUT1 292 34110 9.73 0 Cytosol NA PE1 11 +NX_Q6ZUT3 714 81614 8.05 0 Cell projection;Growth cone Nystagmus congenital X-linked 1 PE1 X +NX_Q6ZUT4 128 14221 9.39 0 NA NA PE5 12 +NX_Q6ZUT6 534 57325 9.31 0 Nucleoplasm;Cytosol NA PE1 15 +NX_Q6ZUT9 1274 145020 6.29 1 Cytoskeleton;Nucleolus;Membrane NA PE1 12 +NX_Q6ZUU3 175 18625 11.34 0 Nucleolus NA PE2 3 +NX_Q6ZUV0 252 28164 6.71 0 Cytoplasm NA PE5 4 +NX_Q6ZUX3 1019 111153 9.51 0 NA NA PE1 2 +NX_Q6ZUX7 228 24486 6.06 4 Cytoplasmic vesicle;Cytoskeleton;Membrane NA PE1 5 +NX_Q6ZV29 1317 145705 7.77 1 Microsome membrane;Lysosome membrane;Nucleus membrane;Cytosol;Microtubule organizing center;Membrane;Mitochondrion membrane NA PE1 9 +NX_Q6ZV50 586 66266 5.75 0 Nucleoplasm;Nucleus NA PE2 2 +NX_Q6ZV56 151 16313 6.5 0 NA NA PE5 22 +NX_Q6ZV60 143 16386 9.92 0 NA NA PE5 12 +NX_Q6ZV65 393 45662 9.47 0 Cytosol;Cell membrane NA PE2 4 +NX_Q6ZV70 420 46319 6.71 0 Mitochondrion NA PE1 X +NX_Q6ZV73 1430 160816 6.61 0 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton NA PE1 12 +NX_Q6ZV77 190 20001 6.99 0 NA NA PE2 9 +NX_Q6ZV80 131 14825 9.55 0 NA NA PE2 2 +NX_Q6ZV89 423 46797 8.89 0 Cytosol;Postsynaptic density NA PE1 1 +NX_Q6ZVC0 841 87928 9.72 0 Cytoplasmic vesicle;Golgi apparatus NA PE1 7 +NX_Q6ZVD7 989 110962 7.82 0 Nucleolus;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Centrosome Pre-eclampsia/eclampsia 4 PE1 10 +NX_Q6ZVD8 1323 146751 5.45 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Membrane NA PE1 16 +NX_Q6ZVE7 132 14887 10.38 4 Golgi apparatus membrane NA PE1 1 +NX_Q6ZVF9 776 82439 7.52 0 Nucleolus;Nucleus NA PE1 4 +NX_Q6ZVH6 145 15831 8.23 0 NA NA PE2 11 +NX_Q6ZVH7 1005 108132 6.01 0 Stereocilium NA PE1 2 +NX_Q6ZVK1 233 26378 5.07 4 Mitochondrion;Membrane NA PE1 14 +NX_Q6ZVK8 323 35501 5.83 0 Nucleoplasm;Golgi apparatus NA PE1 8 +NX_Q6ZVL6 1849 198999 8.32 1 Nucleoplasm;Membrane NA PE1 11 +NX_Q6ZVL8 140 15891 9.03 0 NA NA PE2 16 +NX_Q6ZVM7 507 55556 4.69 0 Cytoskeleton;Golgi apparatus NA PE1 17 +NX_Q6ZVN7 128 14085 9.69 0 NA NA PE2 7 +NX_Q6ZVN8 426 45080 7.57 0 Cell membrane Hemochromatosis 2A PE1 1 +NX_Q6ZVQ6 151 17006 11.05 0 NA NA PE2 19 +NX_Q6ZVS7 135 16193 8.06 0 Cilium basal body NA PE5 7 +NX_Q6ZVT0 673 75042 9.36 0 NA NA PE1 1 +NX_Q6ZVT6 689 76271 5.09 0 Golgi apparatus NA PE2 3 +NX_Q6ZVU0 165 18168 9.05 0 NA NA PE5 11 +NX_Q6ZVW7 336 37514 8.74 0 NA NA PE1 22 +NX_Q6ZVX7 275 30847 6.16 0 Mitochondrion;Cytoplasm NA PE1 19 +NX_Q6ZVX9 377 42692 8.92 7 Cell membrane NA PE1 3 +NX_Q6ZVZ8 466 50803 6.49 0 NA NA PE2 2 +NX_Q6ZW05 846 96371 8.84 12 Cytosol;Cell membrane;Membrane NA PE1 6 +NX_Q6ZW13 317 33511 5.29 0 NA NA PE1 16 +NX_Q6ZW31 735 79793 8.72 0 Cytosol;Nucleoplasm;Golgi apparatus NA PE1 19 +NX_Q6ZW33 695 77277 8.64 0 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm NA PE1 11 +NX_Q6ZW35 169 18328 7 0 NA NA PE2 1 +NX_Q6ZW49 1069 121341 6.24 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus matrix;Chromosome NA PE1 7 +NX_Q6ZW61 710 79085 5.8 0 Cilium Bardet-Biedl syndrome 12 PE1 4 +NX_Q6ZW76 656 72038 5.31 0 Nucleoplasm;Cytosol NA PE1 16 +NX_Q6ZWB6 473 52440 8.6 0 Cytoplasmic vesicle;Postsynaptic cell membrane;Presynaptic cell membrane NA PE1 4 +NX_Q6ZWC4 215 22988 9.32 0 NA NA PE5 19 +NX_Q6ZWE6 761 87166 6.69 0 Cytoplasmic vesicle;Cytoplasm;Cytosol;Golgi apparatus;Cell membrane NA PE1 2 +NX_Q6ZWH5 1172 133259 6.35 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 3 +NX_Q6ZWI9 263 29922 5.52 0 NA NA PE2 6 +NX_Q6ZWJ1 553 61662 5.12 0 Cytosol;Cytoplasm;Cell membrane NA PE1 17 +NX_Q6ZWJ8 1568 166935 5.5 0 Secreted NA PE1 7 +NX_Q6ZWK4 172 19405 4.76 1 Cell membrane NA PE1 1 +NX_Q6ZWK6 438 49410 9.33 1 Membrane NA PE2 4 +NX_Q6ZWL3 525 60724 7.19 1 Endoplasmic reticulum membrane;Nucleus speckle Bietti crystalline corneoretinal dystrophy PE1 4 +NX_Q6ZWT7 520 59527 8.3 9 Cytoplasmic vesicle;Membrane NA PE1 2 +NX_Q6ZXV5 915 104009 9.03 9 Endoplasmic reticulum;Membrane Lissencephaly 8 PE1 12 +NX_Q6ZYL4 71 8053 4.5 0 Nucleus Trichothiodystrophy 3, photosensitive PE1 6 +NX_Q701N2 237 21409 8.39 0 NA NA PE2 11 +NX_Q701N4 177 16271 8.31 0 NA NA PE1 11 +NX_Q702N8 1843 198561 5.78 0 Cytoskeleton;Nucleus;Cell junction NA PE1 3 +NX_Q709C8 3753 422390 6.38 0 Cytoskeleton;Mitochondrion outer membrane Parkinson disease 23, autosomal recessive, early onset PE1 15 +NX_Q709F0 780 87264 8.23 0 Mitochondrion;Peroxisome NA PE1 3 +NX_Q70CQ1 688 79198 9.37 0 Nucleus NA PE1 6 +NX_Q70CQ2 3546 404233 5.51 0 Cytoplasm;Nucleus NA PE1 2 +NX_Q70CQ3 517 58503 8.57 1 Mitochondrion outer membrane NA PE1 12 +NX_Q70CQ4 1352 146651 9.35 0 Cytosol NA PE1 16 +NX_Q70E73 1250 135256 8.97 0 Cytosol;Cell membrane;Nucleus;Filopodium;Lamellipodium;Cytoskeleton NA PE1 2 +NX_Q70EK8 1073 120806 7.54 0 Nucleoplasm;Tight junction;Golgi apparatus NA PE1 4 +NX_Q70EK9 711 79756 8.73 0 Cytosol;Nucleolus;Chromosome NA PE1 X +NX_Q70EL1 1684 187388 6.89 0 Mitochondrion NA PE1 10 +NX_Q70EL2 814 91733 8.32 0 Cytosol;Nucleus NA PE1 6 +NX_Q70EL3 339 38955 6.31 0 NA NA PE2 15 +NX_Q70EL4 1123 122809 9.35 0 NA NA PE1 17 +NX_Q70HW3 274 29354 9.39 6 Mitochondrion;Mitochondrion inner membrane Combined oxidative phosphorylation deficiency 28 PE1 3 +NX_Q70IA6 237 26927 6.3 0 Cytosol;Perinuclear region;Nucleolus;Nucleus NA PE1 11 +NX_Q70IA8 216 25623 9.01 0 NA NA PE1 1 +NX_Q70J99 1090 123282 6.19 0 Late endosome;Lysosome;Cytosol;Cytoplasm;Cytoplasmic vesicle;Membrane;Recycling endosome Familial hemophagocytic lymphohistiocytosis 3 PE1 17 +NX_Q70JA7 882 100284 8.91 1 Golgi stack membrane NA PE1 5 +NX_Q70SY1 520 57415 5.3 1 Endoplasmic reticulum membrane;Nucleoplasm;Nucleus;Endoplasmic reticulum NA PE1 7 +NX_Q70UQ0 350 39309 9.21 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 12 +NX_Q70YC4 216 24036 8.19 0 NA Uric acid nephrolithiasis PE2 10 +NX_Q70YC5 407 46542 9.3 0 Cytoplasmic vesicle;Centrosome;Microtubule organizing center NA PE1 10 +NX_Q70Z35 1606 182622 7.26 0 Endoplasmic reticulum NA PE1 8 +NX_Q70Z44 454 50191 9.02 4 Cell membrane NA PE1 3 +NX_Q70Z53 315 37548 8.25 0 Nucleus NA PE1 10 +NX_Q711Q0 1435 156477 5.98 0 Z line NA PE1 10 +NX_Q712K3 238 27166 4.26 0 Nucleolus;Nucleus NA PE1 9 +NX_Q717R9 158 16393 6.76 0 Cilium membrane;Cilium axoneme NA PE1 2 +NX_Q719H9 257 29405 6.61 0 Nucleus Scalp-ear-nipple syndrome PE1 18 +NX_Q719I0 299 33806 6.98 0 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Nucleus NA PE5 2 +NX_Q71DI3 136 15388 11.27 0 Nucleus;Chromosome NA PE1 1 +NX_Q71F23 418 47522 9.18 0 Kinetochore;Cytoplasm;Nucleus;Microtubule organizing center NA PE1 4 +NX_Q71F56 2210 242602 5.67 0 Nucleus;Golgi apparatus Transposition of the great arteries dextro-looped 1;Mental retardation and distinctive facial features with or without cardiac defects PE1 12 +NX_Q71F78 164 17306 9.33 0 NA NA PE2 X +NX_Q71H61 639 71200 8.43 1 Endoplasmic reticulum membrane NA PE1 1 +NX_Q71RC2 724 80596 6.2 0 Cytosol;Cytoplasm;Stress granule;Nucleus NA PE1 12 +NX_Q71RC9 77 8540 8.24 1 Cytoplasmic vesicle;Golgi apparatus;Membrane NA PE1 17 +NX_Q71RG4 321 33788 4.92 3 Cytosol;Cytoplasmic vesicle;Endoplasmic reticulum;Membrane NA PE1 17 +NX_Q71RG6 208 21376 9.25 0 Secreted NA PE5 8 +NX_Q71RH2 274 30629 9.12 4 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum NA PE1 16 +NX_Q71RS6 500 54888 5.77 11 Melanosome;trans-Golgi network membrane Albinism, oculocutaneous, 6 PE1 15 +NX_Q71SY5 747 78171 8.61 0 Nucleoplasm;Cytoplasm;Nucleus Basel-Vanagaite-Smirin-Yosef syndrome;Charcot-Marie-Tooth disease 2B2 PE1 19 +NX_Q71U36 451 50136 4.94 0 Cytoskeleton Lissencephaly 3 PE1 12 +NX_Q71UI9 128 13509 10.58 0 Nucleus;Chromosome NA PE1 7 +NX_Q71UM5 84 9477 9.57 0 NA NA PE1 15 +NX_Q75L30 129 13422 9.14 0 NA NA PE5 7 +NX_Q75LS8 142 15591 4.29 0 NA NA PE5 7 +NX_Q75MW2 155 17236 9.66 0 NA NA PE5 7 +NX_Q75N03 491 54519 8.57 0 Nucleoplasm;Nucleus speckle;Cytoplasm NA PE1 7 +NX_Q75N90 2809 300356 4.92 0 Extracellular matrix NA PE1 19 +NX_Q75NE6 70 8163 9.26 1 Membrane Feingold syndrome 2 PE5 13 +NX_Q75QN2 995 113088 6.65 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q75T13 922 105383 9.14 7 Endoplasmic reticulum membrane Mental retardation, autosomal recessive 42 PE1 2 +NX_Q75V66 913 107188 6.37 8 Endoplasmic reticulum membrane;Cell membrane Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy 2L;Miyoshi muscular dystrophy 3 PE1 11 +NX_Q75VX8 874 92882 6.48 0 Cytosol NA PE1 2 +NX_Q75WM6 255 28116 11.77 0 Nucleus;Chromosome NA PE1 12 +NX_Q765I0 119 13749 6.11 0 Mitochondrion;Secreted NA PE3 3 +NX_Q765P7 747 79929 7.18 0 Cytoplasm;Focal adhesion;Ruffle NA PE1 16 +NX_Q76B58 766 88445 8.06 0 Mitochondrion;Secreted NA PE1 1 +NX_Q76EJ3 337 36673 8.89 8 Golgi apparatus membrane;Golgi apparatus NA PE1 9 +NX_Q76FK4 1167 131616 6.67 0 Nucleolus NA PE1 9 +NX_Q76G19 769 86171 5.8 0 Cell cortex NA PE1 X +NX_Q76I76 1423 158216 5.26 0 Cytoskeleton NA PE1 17 +NX_Q76KD6 591 62399 8.31 0 Cytoplasm;Centrosome NA PE1 8 +NX_Q76KP1 1039 116513 6.51 1 Nucleoplasm;Golgi stack membrane;Cytoskeleton;Spindle NA PE1 11 +NX_Q76KX8 674 77167 9.42 0 Nucleus NA PE2 19 +NX_Q76L83 1435 153820 9 0 Nucleoplasm;Nucleus Shashi-Pena syndrome PE1 2 +NX_Q76LX8 1427 153604 6.96 0 Secreted Thrombotic thrombocytopenic purpura congenital PE1 9 +NX_Q76M96 950 108174 9.72 0 Extracellular matrix NA PE1 3 +NX_Q76MJ5 926 102480 6.73 1 Endoplasmic reticulum membrane NA PE1 16 +NX_Q76N32 757 81102 5.04 0 Nucleus;Centrosome;Microtubule organizing center NA PE1 2 +NX_Q76N89 1606 179554 5.33 0 Cytosol;Cytoplasm NA PE1 7 +NX_Q76NI1 1749 191397 5.83 0 Dendrite;Perikaryon NA PE1 10 +NX_Q7KYR7 527 59633 6.08 1 Cell membrane;Membrane NA PE1 6 +NX_Q7KZ85 1726 199073 4.81 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA PE1 17 +NX_Q7KZF4 910 101997 6.74 0 Cytosol;Cytoplasm;Nucleus;Melanosome NA PE1 7 +NX_Q7KZI7 788 87911 9.73 0 Nucleoplasm;Cytoplasm;Cell membrane;Dendrite;Cytoskeleton;Lateral cell membrane NA PE1 11 +NX_Q7KZN9 410 46030 9.85 8 Mitochondrion;Mitochondrion membrane Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2;Leigh syndrome PE1 10 +NX_Q7L014 1031 117362 9.33 0 Nucleus speckle;Membrane;Nucleus;Cajal body NA PE1 5 +NX_Q7L099 469 52965 5.36 0 Perikaryon;Cytosol;Cytoplasm;Endomembrane system;Filopodium;Invadopodium;Lamellipodium;Cell projection;Growth cone NA PE1 4 +NX_Q7L0J3 742 82695 5.38 12 Cytosol;Synaptic vesicle membrane;Synapse;Endoplasmic reticulum NA PE1 1 +NX_Q7L0L9 218 23184 10.99 2 Membrane NA PE2 1 +NX_Q7L0Q8 258 28218 8.39 0 Golgi apparatus membrane;Focal adhesion;Podosome;Cell membrane NA PE1 1 +NX_Q7L0R7 432 47728 6.4 0 Nucleoplasm NA PE2 5 +NX_Q7L0X0 811 88723 9.7 1 Membrane NA PE1 7 +NX_Q7L0X2 663 75255 4.87 0 NA NA PE1 3 +NX_Q7L0Y3 403 47347 9.4 0 Mitochondrion;Mitochondrion nucleoid;Nucleoplasm Combined oxidative phosphorylation deficiency 30 PE1 3 +NX_Q7L190 304 33541 9.57 0 Nucleolus;Nucleus NA PE1 3 +NX_Q7L1I2 683 77444 5.26 12 Synaptic vesicle membrane;Acrosome NA PE1 15 +NX_Q7L1Q6 419 48043 5.75 0 Cytoplasmic vesicle NA PE1 2 +NX_Q7L1S5 443 52055 9.41 1 Golgi apparatus membrane;Secreted NA PE1 18 +NX_Q7L1T6 521 59474 7.6 0 Endoplasmic reticulum NA PE1 6 +NX_Q7L1V2 547 59217 5.88 0 Cytosol NA PE1 16 +NX_Q7L1W4 858 98201 7.76 4 Endoplasmic reticulum membrane;Nucleoplasm;Mitochondrion;Cell membrane NA PE1 1 +NX_Q7L211 337 38548 8.74 1 Cytosol;Membrane NA PE1 13 +NX_Q7L266 308 32055 5.84 0 Nucleoplasm;Cytoplasm;Cytoskeleton NA PE1 11 +NX_Q7L273 389 42567 5.95 0 Cytosol;Nucleoplasm;Cytoskeleton NA PE1 8 +NX_Q7L2E3 1194 133938 8.99 0 Mitochondrion nucleoid;Mitochondrion;Cytosol;Cytoplasm Neurodevelopmental disorder with severe motor impairment and absent language PE1 3 +NX_Q7L2H7 374 42503 5.41 0 Cytosol;Cytoplasm;Nucleus NA PE1 11 +NX_Q7L2J0 689 74355 9.62 0 Nucleoplasm;Cell junction NA PE1 7 +NX_Q7L2K0 433 46402 9.54 0 Nucleoplasm;Cell junction NA PE1 16 +NX_Q7L2R6 523 61633 8.92 0 Nucleus NA PE1 19 +NX_Q7L2Z9 268 30595 9.43 0 Nucleoplasm;Centromere;Nucleus NA PE1 6 +NX_Q7L311 632 65683 8.68 1 Mitochondrion;Nucleus;Mitochondrion outer membrane NA PE1 X +NX_Q7L3B6 337 38835 5.22 0 Cytosol;Cytoplasm NA PE1 9 +NX_Q7L3S4 317 35702 9.15 0 Nucleolus;Nucleus NA PE1 16 +NX_Q7L3T8 475 53263 8.45 0 Mitochondrion;Mitochondrion matrix;Nucleolus NA PE1 1 +NX_Q7L3V2 364 39299 4.93 0 Mitochondrion NA PE1 22 +NX_Q7L4E1 593 65531 5.62 2 Cytosol;Cell junction;Mitochondrion outer membrane NA PE1 9 +NX_Q7L4I2 434 50560 11.33 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Nucleus speckle NA PE1 12 +NX_Q7L4P6 421 48182 5.88 0 NA NA PE1 1 +NX_Q7L4S7 300 33019 4.69 1 Nucleus membrane;Cytosol;Cytoplasm;Cell membrane;Mitochondrion outer membrane;Nucleus;Mitochondrion NA PE1 X +NX_Q7L513 359 38927 5.22 0 Cytoplasm NA PE1 1 +NX_Q7L523 313 36566 7.62 0 Cytoplasm;Nucleus;Lysosome NA PE1 9 +NX_Q7L576 1253 145182 6.46 0 Synaptosome;Perinuclear region;Ruffle;Lamellipodium;Cytoplasm NA PE1 15 +NX_Q7L590 875 98183 8.96 0 Nucleolus;Nucleus NA PE1 10 +NX_Q7L591 496 53288 7.93 0 Cytoplasm;Cell membrane NA PE1 5 +NX_Q7L592 441 49238 8.47 0 Mitochondrion NA PE1 2 +NX_Q7L5A3 538 56690 9.09 0 Nucleolus;Nucleus NA PE1 9 +NX_Q7L5A8 372 42791 8.76 4 Endoplasmic reticulum membrane;Microsome membrane;Nucleus membrane Spastic paraplegia 35, autosomal recessive PE1 16 +NX_Q7L5D6 327 36504 5.29 0 Nucleoplasm;Cytosol;Nucleolus NA PE1 7 +NX_Q7L5L3 318 36596 8.13 2 Cytosol;Endoplasmic reticulum;Nucleoplasm;Perinuclear region;Membrane;Cytoskeleton NA PE1 16 +NX_Q7L5N1 327 36163 5.47 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 7 +NX_Q7L5N7 544 60208 6.14 1 Endoplasmic reticulum membrane;Lipid droplet;Golgi apparatus membrane;Endoplasmic reticulum NA PE1 16 +NX_Q7L5Y1 443 49786 6.03 0 Mitochondrion NA PE1 18 +NX_Q7L5Y6 550 63848 7.32 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 15 +NX_Q7L5Y9 396 45287 8.95 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus matrix;Cell membrane NA PE1 4 +NX_Q7L622 706 80504 7.9 0 Cytosol;Cytoplasmic vesicle;Nucleolus;Cytoplasm NA PE1 14 +NX_Q7L775 607 70370 5.77 0 Endoplasmic reticulum NA PE1 3 +NX_Q7L7L0 130 14121 11.05 0 Nucleus;Chromosome NA PE1 1 +NX_Q7L7V1 743 84419 4.88 0 Mitochondrion;Nucleus NA PE1 10 +NX_Q7L7X3 1001 116070 7.3 0 Cytoplasmic vesicle;Cytoplasm NA PE1 17 +NX_Q7L804 512 58279 9.33 0 Cytoplasmic vesicle;Nucleoplasm;Recycling endosome membrane;Cell membrane NA PE1 10 +NX_Q7L8A9 365 40957 9.5 0 Cytoplasm;Secreted NA PE1 14 +NX_Q7L8C5 426 46885 7.6 1 Cytoplasmic vesicle;Golgi apparatus;Membrane NA PE1 11 +NX_Q7L8J4 393 43499 5.57 0 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA PE1 1 +NX_Q7L8L6 764 86574 8.41 0 Mitochondrion nucleoid NA PE1 20 +NX_Q7L8S5 288 33300 6.29 0 NA NA PE1 X +NX_Q7L8W6 267 30307 5.24 0 Nucleolus;Nucleus NA PE1 15 +NX_Q7L945 461 52853 9.18 0 Nucleolus;Nucleus NA PE1 19 +NX_Q7L985 606 68066 8.44 1 Membrane NA PE1 9 +NX_Q7L9B9 569 62403 8.64 0 Cytoplasmic vesicle;Nucleus speckle;Cell membrane NA PE1 7 +NX_Q7L9L4 216 25091 6.24 0 Cytoplasm;Nucleus NA PE1 4 +NX_Q7LBC6 1761 191581 6.78 0 Nucleoplasm;Nucleus NA PE1 5 +NX_Q7LBE3 791 86988 8.47 13 Nucleus;Cell junction;Membrane NA PE1 1 +NX_Q7LBR1 199 22109 7.81 0 Cytosol;Endosome;Late endosome membrane;Nucleus;Midbody NA PE1 18 +NX_Q7LC44 396 45316 5.45 0 Extracellular vesicle membrane;Synapse;Acrosome;Early endosome membrane;Cell cortex;Cytoplasmic vesicle;Dendrite;Postsynaptic cell membrane;Dendritic spine;Postsynaptic density;Cytoskeleton NA PE1 8 +NX_Q7LDG7 609 69248 7.89 0 Cytosol;Synaptosome;Cell membrane;Ruffle membrane Bleeding disorder, platelet-type 18 PE1 11 +NX_Q7LDI9 666 74079 9.11 0 Cell membrane NA PE1 7 +NX_Q7LFL8 322 32977 9.27 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 5 +NX_Q7LFX5 561 64926 8.56 1 Cytosol;Golgi apparatus membrane;Centrosome NA PE1 10 +NX_Q7LG56 351 40737 4.89 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5;Mitochondrial DNA depletion syndrome 8B;Mitochondrial DNA depletion syndrome 8A PE1 8 +NX_Q7LGA3 356 41881 8.83 1 Mitochondrion;Golgi apparatus membrane NA PE1 1 +NX_Q7LGC8 479 54706 8.84 1 Cytosol;Golgi apparatus membrane;Golgi apparatus Spondyloepiphyseal dysplasia with congenital joint dislocations PE1 10 +NX_Q7M4L6 423 46768 6.01 0 Nucleus NA PE1 15 +NX_Q7RTM1 612 67353 8.71 12 Cell membrane NA PE2 4 +NX_Q7RTN6 431 48369 6.02 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 17 +NX_Q7RTP0 329 34562 8.7 9 Cell membrane;Early endosome Spastic paraplegia 6, autosomal dominant PE1 15 +NX_Q7RTP6 2002 224295 5.43 0 Cytosol;Cytoplasm;Cell cortex;Cell membrane;Nucleoplasm;Nucleus;Cytoskeleton;Cilium basal body;Midbody;Spindle NA PE1 22 +NX_Q7RTR0 991 113312 6.08 0 Cytoplasm;Inflammasome NA PE1 19 +NX_Q7RTR2 1065 114658 8.64 0 Cytosol;Cytoplasm;Microtubule organizing center NA PE1 16 +NX_Q7RTR8 314 36195 9.64 7 Nucleoplasm;Cytoskeleton;Focal adhesion;Membrane NA PE2 12 +NX_Q7RTS1 189 20818 11.26 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 7 +NX_Q7RTS3 328 34970 5.1 0 Nucleoplasm;Cytoplasm;Nucleus Pancreatic agenesis 2;Pancreatic and cerebellar agenesis PE1 10 +NX_Q7RTS5 596 66296 8.96 12 Cell membrane NA PE1 17 +NX_Q7RTS6 562 62236 7.04 12 Cell membrane NA PE1 17 +NX_Q7RTS7 529 57865 7.59 0 NA Ectodermal dysplasia 7, hair/nail type;Woolly hair autosomal dominant;Hypotrichosis 3 PE1 12 +NX_Q7RTS9 669 75935 5.56 0 Cytoplasm;Golgi apparatus;Membrane Smith-McCort dysplasia 1;Dyggve-Melchior-Clausen syndrome PE1 18 +NX_Q7RTT3 188 21553 9.19 0 NA NA PE2 X +NX_Q7RTT4 187 21859 9.46 0 NA NA PE2 X +NX_Q7RTT5 188 21591 9.19 0 NA NA PE2 X +NX_Q7RTT6 188 21688 9.32 0 NA NA PE5 X +NX_Q7RTT9 530 58059 7.64 10 Cytoskeleton;Apical cell membrane;Cell membrane NA PE1 7 +NX_Q7RTU0 167 17516 10.24 0 Nucleus NA PE3 8 +NX_Q7RTU1 214 23309 11.33 0 Nucleus NA PE2 2 +NX_Q7RTU3 272 29358 9.54 0 Nucleus NA PE1 6 +NX_Q7RTU4 235 24132 11.21 0 Cytoplasm;Nucleus Camptosynpolydactyly, complex;Syndactyly, mesoaxial synostotic, with phalangeal reduction;Split-hand/foot malformation with long bone deficiency 3 PE1 17 +NX_Q7RTU5 278 29462 8.71 0 Nucleus NA PE3 1 +NX_Q7RTU7 201 21596 10.17 0 Nucleus NA PE3 8 +NX_Q7RTU9 1775 192967 5.27 0 Kinocilium;Cell surface;Stereocilium Deafness, autosomal recessive, 16;Deafness-infertility syndrome PE2 15 +NX_Q7RTV0 110 12405 8.79 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 22 +NX_Q7RTV2 222 25722 7.74 0 Cytoplasm NA PE1 6 +NX_Q7RTV3 350 38411 8.07 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q7RTV5 226 24857 9.07 0 NA NA PE1 9 +NX_Q7RTW8 1153 128533 5.53 0 Apical cell membrane;Extracellular matrix Deafness, autosomal recessive, 22 PE1 16 +NX_Q7RTX0 852 93386 6.75 7 Cell membrane NA PE1 1 +NX_Q7RTX1 841 93074 8.32 7 Cell membrane NA PE2 1 +NX_Q7RTX7 472 54092 5.15 6 Flagellum membrane NA PE1 1 +NX_Q7RTX9 510 56254 6.45 12 Cell membrane;Endoplasmic reticulum NA PE2 2 +NX_Q7RTY0 426 44992 6.44 12 Golgi apparatus membrane;Cell membrane;Golgi apparatus Diabetes mellitus, non-insulin-dependent PE1 17 +NX_Q7RTY1 509 55794 8.25 12 Nucleus;Cell junction;Cell membrane NA PE1 10 +NX_Q7RTY3 260 29329 8.42 0 NA NA PE2 3 +NX_Q7RTY5 328 35970 7.49 0 Secreted NA PE2 4 +NX_Q7RTY7 1134 125066 8.67 0 Secreted NA PE1 12 +NX_Q7RTY8 843 94415 8.84 1 Cell membrane NA PE2 3 +NX_Q7RTY9 318 35078 9.36 0 Cell membrane NA PE1 16 +NX_Q7RTZ1 564 62642 7.22 0 Secreted NA PE1 11 +NX_Q7RTZ2 530 59590 7.81 0 Nucleus;Endoplasmic reticulum NA PE3 8 +NX_Q7Z2D5 763 82983 9 6 Membrane NA PE1 1 +NX_Q7Z2E3 356 40740 9.27 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Ataxia-oculomotor apraxia syndrome PE1 9 +NX_Q7Z2F6 126 14454 4.9 0 Nucleoplasm;Cytosol NA PE1 16 +NX_Q7Z2G1 175 19618 10.69 0 Chromosome;Nucleus membrane NA PE1 X +NX_Q7Z2H8 476 53076 6.54 11 Lysosome membrane;Cell membrane;Endoplasmic reticulum NA PE1 5 +NX_Q7Z2K6 904 100231 7.2 9 Endoplasmic reticulum membrane;Nucleolus;Nucleus NA PE1 9 +NX_Q7Z2K8 1008 102399 8.33 0 Cytoplasmic vesicle;Growth cone;Cell membrane NA PE1 5 +NX_Q7Z2Q7 622 70301 9.02 1 Membrane NA PE2 5 +NX_Q7Z2R9 100 10995 12.15 0 Secreted NA PE5 1 +NX_Q7Z2T5 733 81747 8.11 0 Nucleolus;Nucleus NA PE1 1 +NX_Q7Z2V1 217 23111 6.41 0 NA NA PE1 16 +NX_Q7Z2W4 902 101431 8.72 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA PE1 7 +NX_Q7Z2W7 1104 127685 6.91 6 Endoplasmic reticulum membrane;Membrane raft;Cell membrane NA PE1 2 +NX_Q7Z2W9 205 22815 9.91 0 Nucleoplasm;Mitochondrion NA PE1 11 +NX_Q7Z2X4 250 28272 6.53 0 Cytoplasm;Endoplasmic reticulum NA PE1 2 +NX_Q7Z2X7 111 12090 4 0 NA NA PE1 X +NX_Q7Z2Y5 1582 178479 5.93 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 X +NX_Q7Z2Y8 2422 279048 6.12 0 Cytosol;Nucleus NA PE1 11 +NX_Q7Z2Z1 1910 210857 9 0 Nucleoplasm;Nucleus NA PE1 15 +NX_Q7Z2Z2 1120 125430 5.66 0 Cytosol Shwachman-Diamond syndrome 2 PE1 15 +NX_Q7Z304 686 77556 5.05 0 Nucleus speckle;Cell membrane;Endoplasmic reticulum;Extracellular matrix NA PE1 9 +NX_Q7Z309 247 26928 5.98 0 Nucleoplasm;Nucleus NA PE1 X +NX_Q7Z333 2677 302880 6.83 0 Nucleolus;Nucleoplasm;Cytoplasm;Telomere;Axon;Nucleus;Cytoskeleton;Growth cone;Chromosome Amyotrophic lateral sclerosis 4;Spinocerebellar ataxia, autosomal recessive, 1 PE1 9 +NX_Q7Z340 670 77515 8.73 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 19 +NX_Q7Z353 690 77206 5.61 0 Cytosol;Nucleus NA PE1 X +NX_Q7Z388 723 83756 8.41 12 Cytoplasmic vesicle;Endoplasmic reticulum;Membrane NA PE1 8 +NX_Q7Z392 1133 128881 6.72 0 Nucleoplasm;cis-Golgi network;Golgi apparatus;Nucleus membrane Limb-girdle muscular dystrophy 2S PE1 4 +NX_Q7Z398 422 48381 8.95 0 Cytoplasmic vesicle;Cytoskeleton;Nucleus NA PE1 19 +NX_Q7Z3B0 74 8625 9.82 1 Membrane NA PE1 5 +NX_Q7Z3B1 354 38719 5.84 0 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Cell membrane NA PE1 1 +NX_Q7Z3B3 1105 121025 9 0 Kinetochore;Nucleoplasm;Nucleus NA PE1 17 +NX_Q7Z3B4 507 55435 6.53 0 Nucleoplasm;Nuclear pore complex;Nucleus membrane NA PE1 4 +NX_Q7Z3C6 839 94447 6.19 6 Endoplasmic reticulum membrane;Autophagosome membrane;trans-Golgi network membrane;Endoplasmic reticulum;Cytoplasmic vesicle;Late endosome membrane NA PE1 2 +NX_Q7Z3D4 306 34538 5.62 1 Cytosol;Membrane NA PE1 5 +NX_Q7Z3D6 616 66437 6.32 0 Mitochondrion;Cytosol;Mitochondrion matrix NA PE1 14 +NX_Q7Z3E1 657 76227 6.19 0 Cytoskeleton;Nucleus NA PE1 3 +NX_Q7Z3E2 898 103687 5.94 0 Golgi apparatus NA PE1 10 +NX_Q7Z3E5 818 91819 5.83 0 Cytosol;Cytoplasm;Nucleolus;Cilium basal body Joubert syndrome 30 PE1 2 +NX_Q7Z3F1 870 96919 6.42 17 Cytosol;Endosome;Nucleus;Membrane NA PE1 2 +NX_Q7Z3G6 844 95615 7.12 0 Cytoplasmic vesicle;Golgi apparatus;Nucleus membrane NA PE1 3 +NX_Q7Z3H0 452 49403 8.17 0 Cytosol;Nucleus NA PE2 12 +NX_Q7Z3H4 446 49112 6.32 0 Cytoplasm;Nucleus NA PE1 3 +NX_Q7Z3I7 529 61238 8.32 0 Nucleus speckle;Nucleus NA PE1 8 +NX_Q7Z3J2 963 109563 6.82 1 Mitochondrion;Cytoplasm;Membrane;Nucleus;Early endosome NA PE1 16 +NX_Q7Z3J3 1758 197289 5.9 0 NA NA PE1 2 +NX_Q7Z3K3 1410 155344 7.14 0 Nucleoplasm;Cytoplasm;Nucleus;Chromosome White-Sutton syndrome PE1 1 +NX_Q7Z3K6 550 61437 4.42 0 Nucleoplasm;Nucleus NA PE1 5 +NX_Q7Z3Q1 461 51519 5.56 11 Cytosol;Endosome;Cytoskeleton;Cell membrane;Membrane NA PE1 13 +NX_Q7Z3S7 1137 127938 5.18 1 Membrane Retinal cone dystrophy 4 PE1 12 +NX_Q7Z3S9 236 25835 5.44 0 Cytoplasm;Secreted NA PE1 1 +NX_Q7Z3T1 314 34789 8.92 7 Cell membrane NA PE2 1 +NX_Q7Z3T8 1539 168903 4.67 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Early endosome membrane NA PE1 5 +NX_Q7Z3U7 1717 190359 5.72 0 Nucleoplasm;Nucleolus NA PE1 12 +NX_Q7Z3V4 1068 123098 8.51 0 Mitochondrion;Nucleus speckle Kaufman oculocerebrofacial syndrome PE1 12 +NX_Q7Z3V5 609 70792 8.71 0 Nucleolus;Nucleus;Cell membrane NA PE1 19 +NX_Q7Z3Y7 464 50567 5.33 0 Cytoplasm NA PE1 17 +NX_Q7Z3Y8 459 49822 4.98 0 Cytoplasm NA PE1 17 +NX_Q7Z3Y9 468 51911 4.86 0 NA NA PE1 17 +NX_Q7Z3Z0 450 49318 5 0 Cytoplasmic vesicle;Cytoplasm Woolly hair autosomal recessive 3 PE1 17 +NX_Q7Z3Z2 195 22704 7.73 0 NA Leber congenital amaurosis 12 PE1 1 +NX_Q7Z3Z3 882 101089 9.56 0 Cytoplasm NA PE1 22 +NX_Q7Z3Z4 852 96589 9.09 0 Mitochondrion;Cytoplasm;Nucleus NA PE1 11 +NX_Q7Z401 1863 209244 7.07 0 Nucleolus;Nucleus NA PE1 15 +NX_Q7Z402 723 83502 8.74 9 Cytoplasmic vesicle;Membrane NA PE1 16 +NX_Q7Z403 805 90045 8.98 10 Endoplasmic reticulum membrane Epidermodysplasia verruciformis PE1 17 +NX_Q7Z404 712 79208 9.16 9 Membrane NA PE1 19 +NX_Q7Z406 1995 227871 5.52 0 Nucleoplasm Deafness, autosomal dominant, 4A;Peripheral neuropathy, myopathy, hoarseness, and hearing loss PE1 19 +NX_Q7Z407 3707 406000 5.63 2 Cell membrane NA PE1 8 +NX_Q7Z408 3487 380039 5.69 1 Cell membrane NA PE1 1 +NX_Q7Z410 1059 114021 8.46 1 Cell membrane NA PE1 19 +NX_Q7Z412 305 33898 5.94 1 Peroxisome membrane Peroxisome biogenesis disorder 7B;Peroxisome biogenesis disorder 7A;Peroxisome biogenesis disorder complementation group 8 PE1 22 +NX_Q7Z417 695 76121 8.7 0 Cytosol;Cytoplasm;Stress granule;Nucleus;Nucleoplasm NA PE1 17 +NX_Q7Z418 384 43671 6.6 4 Cell membrane Migraine with or without aura 13 PE1 10 +NX_Q7Z419 303 33697 7.62 1 Mitochondrion;Cytoplasm;Nucleolus;Mitochondrion membrane NA PE1 6 +NX_Q7Z422 152 16997 8.92 0 Nucleoplasm;Cytosol NA PE1 1 +NX_Q7Z429 371 41203 5.21 7 Cytosol;Nucleolus;Membrane NA PE1 8 +NX_Q7Z434 540 56528 5.36 1 Mitochondrion;Peroxisome;Mitochondrion outer membrane NA PE1 20 +NX_Q7Z442 2459 272514 5.51 12 Membrane NA PE1 16 +NX_Q7Z443 1732 195894 8.78 12 Cell membrane NA PE1 16 +NX_Q7Z444 233 25287 6.1 0 Cell membrane NA PE1 X +NX_Q7Z449 544 61987 8.63 5 Endoplasmic reticulum membrane;Microsome membrane;Cytoplasmic vesicle;Golgi apparatus;Nucleoplasm Spastic paraplegia 56, autosomal recessive PE1 4 +NX_Q7Z460 1538 169451 9.14 0 Kinetochore;Cytoskeleton;Spindle;Centrosome;trans-Golgi network NA PE1 2 +NX_Q7Z465 357 39713 5.26 0 Cytosol NA PE1 1 +NX_Q7Z478 1369 155236 8.3 0 Cytosol;Cytoplasm NA PE1 5 +NX_Q7Z494 1330 150864 6.31 0 Cilium Meckel syndrome 7;Nephronophthisis 3;Renal-hepatic-pancreatic dysplasia 1 PE1 3 +NX_Q7Z4B0 112 12600 9.98 0 Secreted NA PE5 18 +NX_Q7Z4F1 713 76193 5.3 1 Coated pit;Nucleolus;Nucleus;Membrane NA PE1 14 +NX_Q7Z4G1 85 9638 5.69 0 Cytoplasm;Nucleus NA PE1 13 +NX_Q7Z4G4 463 53421 7.65 0 Nucleus NA PE1 6 +NX_Q7Z4H3 204 23390 5.33 0 Nucleolus;Nucleus NA PE1 6 +NX_Q7Z4H4 148 15865 11.81 0 Secreted NA PE2 22 +NX_Q7Z4H7 955 108621 6.04 0 Nucleus speckle;Cytosol;Cytoskeleton;Microtubule organizing center;Spindle;Centrosome NA PE1 9 +NX_Q7Z4H8 507 58572 8.42 0 Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum lumen NA PE1 11 +NX_Q7Z4H9 259 28021 8.86 0 Cytoplasmic vesicle;Nucleus NA PE2 7 +NX_Q7Z4I7 341 38916 8.44 0 Focal adhesion;Nucleus;Cell membrane Limb-girdle muscular dystrophy 2W PE1 2 +NX_Q7Z4J2 276 32608 9.26 1 Membrane NA PE5 9 +NX_Q7Z4K8 759 83424 7.99 0 Axon;Cytosol;Cytoskeleton NA PE1 1 +NX_Q7Z4L0 72 8129 12.08 1 Mitochondrion inner membrane NA PE2 14 +NX_Q7Z4L5 1316 150937 6.53 0 Mitochondrion;Cilium axoneme Joubert syndrome 11;Short-rib thoracic dysplasia 4 with or without polydactyly;Nephronophthisis 12 PE1 2 +NX_Q7Z4L9 309 35480 8.79 0 Cytoskeleton;Centrosome NA PE2 8 +NX_Q7Z4M0 266 29155 5.48 0 NA NA PE1 15 +NX_Q7Z4N2 1603 182178 6.4 9 Cytosol;Nucleoplasm;Cell membrane Night blindness, congenital stationary, 1C PE1 15 +NX_Q7Z4N8 544 61126 6.05 0 Endoplasmic reticulum lumen NA PE1 11 +NX_Q7Z4P5 450 46950 9.9 0 Secreted NA PE1 2 +NX_Q7Z4Q2 680 74583 5.02 0 Cytosol;Nucleus NA PE1 16 +NX_Q7Z4R8 191 20772 4.75 0 Secreted NA PE1 6 +NX_Q7Z4S6 1674 187179 6.05 0 Cytosol;Cytoskeleton;Cell membrane Fibrosis of extraocular muscles, congenital, 1 PE1 12 +NX_Q7Z4S9 175 19279 9.18 0 NA NA PE1 2 +NX_Q7Z4T8 443 51427 8.88 1 Late endosome membrane NA PE1 7 +NX_Q7Z4T9 767 89955 8.73 0 Mitochondrion;Cytoplasm;Cilium axoneme NA PE1 3 +NX_Q7Z4U5 140 16243 10.39 0 NA NA PE2 6 +NX_Q7Z4V0 828 91836 9.49 0 Cytosol;Nucleoplasm;Nucleus NA PE1 10 +NX_Q7Z4V5 671 74317 7.11 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q7Z4W1 244 25913 8.33 0 Cytoskeleton;Nucleolus;Membrane Pentosuria PE1 17 +NX_Q7Z4W2 148 16656 8.04 0 Secreted NA PE1 10 +NX_Q7Z4W3 81 8247 8.57 0 NA NA PE3 21 +NX_Q7Z4Y8 100 11037 9.91 0 Mitochondrion membrane NA PE5 22 +NX_Q7Z553 956 107436 6.88 0 Cell membrane NA PE1 14 +NX_Q7Z569 592 67305 5.64 0 Cytosol;Cytoplasm;Nucleus membrane NA PE1 12 +NX_Q7Z570 1209 136888 8.19 0 Endoplasmic reticulum NA PE2 2 +NX_Q7Z572 469 52207 6.74 0 Cytosol;Cytoplasmic vesicle NA PE2 1 +NX_Q7Z589 1322 141468 9.37 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q7Z591 1439 155139 5.91 0 Nucleoplasm;Nucleus;Centrosome NA PE1 9 +NX_Q7Z5A4 293 32006 6.93 0 Secreted NA PE2 3 +NX_Q7Z5A7 132 14301 9.32 0 Secreted NA PE1 22 +NX_Q7Z5A8 133 14776 8.71 0 Secreted NA PE2 1 +NX_Q7Z5A9 133 14901 8.49 0 Endoplasmic reticulum;Secreted NA PE1 3 +NX_Q7Z5B4 369 41092 5.04 1 Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE1 11 +NX_Q7Z5D8 188 22750 9.73 0 Nucleus NA PE2 12 +NX_Q7Z5G4 137 15824 6.6 0 Golgi apparatus membrane NA PE1 8 +NX_Q7Z5H3 698 76779 8.4 0 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA PE1 10 +NX_Q7Z5H4 357 40779 9.35 7 Cell membrane NA PE2 1 +NX_Q7Z5H5 301 33557 9.58 7 Cell membrane NA PE2 19 +NX_Q7Z5J1 315 34288 9.76 0 Cytoplasmic vesicle;Secreted NA PE2 19 +NX_Q7Z5J4 1906 203352 9.03 0 Nucleoplasm;Cytoplasm;Nucleus Smith-Magenis syndrome PE1 17 +NX_Q7Z5J8 1434 162026 8.39 1 Microtubule organizing center;Nucleus;Membrane NA PE1 2 +NX_Q7Z5K2 1190 132946 5.27 0 Cytoplasm;Nucleus;Chromosome NA PE1 10 +NX_Q7Z5L0 202 21534 4.9 0 Secreted NA PE1 17 +NX_Q7Z5L2 792 87883 5.05 0 Nucleoplasm;Nucleus speckle NA PE1 10 +NX_Q7Z5L3 287 29468 5.5 0 Secreted NA PE1 2 +NX_Q7Z5L4 167 19186 6.44 0 Mitochondrion outer membrane NA PE1 11 +NX_Q7Z5L7 613 68976 6.51 0 Cytoplasm;Extracellular matrix NA PE1 1 +NX_Q7Z5L9 587 61025 9 0 Nucleoplasm;Cytoplasm;Nucleus Immunodeficiency, common variable, 14 PE1 1 +NX_Q7Z5M5 1100 125685 9.28 10 Cytosol;Membrane NA PE2 15 +NX_Q7Z5M8 362 40776 8.57 0 Nucleus NA PE2 14 +NX_Q7Z5N4 2213 242112 5.99 1 Cytosol;Synapse;Cell membrane NA PE1 7 +NX_Q7Z5P4 300 33655 9.14 0 Cytoplasmic vesicle;Golgi apparatus;Secreted NA PE1 4 +NX_Q7Z5P9 8384 805253 4.97 0 Secreted NA PE1 12 +NX_Q7Z5Q1 589 64944 6.78 0 Cytosol;Cytoplasm NA PE1 4 +NX_Q7Z5Q5 900 100307 8.57 0 Nucleoplasm;Nucleus NA PE1 4 +NX_Q7Z5R6 666 73183 5.39 0 Cytosol;Lamellipodium;Focal adhesion;Cytoskeleton;Cell membrane NA PE1 10 +NX_Q7Z5S9 345 37653 6.63 10 Mitochondrion;Membrane NA PE2 4 +NX_Q7Z5U6 358 38989 6.07 0 Cytosol;Cell membrane NA PE1 3 +NX_Q7Z5V6 425 47295 8.74 0 NA NA PE1 11 +NX_Q7Z5W3 292 33200 6.22 0 Cytosol;Cytoplasm;Nucleus NA PE1 12 +NX_Q7Z5Y6 402 44798 9.06 0 Secreted NA PE2 1 +NX_Q7Z5Y7 419 47480 5.16 0 Cytoplasm;Endoplasmic reticulum;Nucleus speckle NA PE1 6 +NX_Q7Z601 462 51106 9.52 7 Cytosol;Cell junction;Cell membrane NA PE2 17 +NX_Q7Z602 305 35464 9.41 7 Cell membrane NA PE2 7 +NX_Q7Z614 316 36178 8.94 0 Nucleoplasm;Cytoplasm;Early endosome membrane;Nucleus;Cell membrane NA PE1 16 +NX_Q7Z624 323 36128 6.38 0 Cytoplasm;Nucleus;Golgi apparatus NA PE1 2 +NX_Q7Z628 596 67740 9.31 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 10 +NX_Q7Z692 300 32638 5.74 1 Mitochondrion;Nucleolus;Nucleus;Membrane NA PE2 19 +NX_Q7Z695 626 68982 9.03 1 Cytosol;Centrosome;Membrane NA PE1 7 +NX_Q7Z698 418 47558 6.32 0 Cytosol;Cytoplasm;Secretory vesicle membrane;Cell membrane;Nucleoplasm NA PE1 2 +NX_Q7Z699 444 50477 6.12 0 Caveola;Nucleus;Cell membrane Neurofibromatosis 1-like syndrome PE1 15 +NX_Q7Z6A9 289 32834 6.09 1 Membrane NA PE1 3 +NX_Q7Z6B0 441 49971 5.03 0 Nucleoplasm;trans-Golgi network membrane;Golgi apparatus;trans-Golgi network;Membrane NA PE1 12 +NX_Q7Z6B7 1085 124264 6.36 0 Nucleus speckle Thyroid cancer, non-medullary, 2 PE1 12 +NX_Q7Z6E9 1792 201564 9.65 0 Nucleus speckle;Nucleolus;Centrosome;Chromosome NA PE1 16 +NX_Q7Z6G3 386 43194 5.33 0 Axon;Cytoplasm;Cytoplasmic vesicle;Cell membrane;Dendrite NA PE1 16 +NX_Q7Z6G8 1248 138066 5.93 0 Cajal body;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Dendritic spine;Postsynaptic density NA PE1 12 +NX_Q7Z6I5 190 20418 5.23 0 Mitochondrion;Nucleoplasm;Cytosol;Cell membrane NA PE2 3 +NX_Q7Z6I6 1101 118582 4.75 0 Cytoplasmic vesicle NA PE1 1 +NX_Q7Z6I8 188 20132 9.87 0 Nucleus NA PE1 5 +NX_Q7Z6J0 888 93129 8.85 0 Cytoplasmic vesicle;Lamellipodium;Perinuclear region;Cytoskeleton;trans-Golgi network NA PE1 4 +NX_Q7Z6J2 395 42623 9.01 0 Cytoplasmic vesicle;Postsynaptic cell membrane;Perinuclear region;Nucleus;Cell membrane NA PE1 12 +NX_Q7Z6J4 655 74892 6.51 0 Cytoplasm;Early endosome membrane;Nucleus;Ruffle membrane;Early endosome;Cytoskeleton NA PE1 6 +NX_Q7Z6J6 570 65065 8.62 1 Adherens junction;Centrosome;Golgi apparatus;Membrane NA PE1 15 +NX_Q7Z6J8 389 43657 8.51 0 Cytoplasm NA PE1 6 +NX_Q7Z6J9 526 58819 8.04 0 Nucleolus;Nucleus Pontocerebellar hypoplasia 5;Pontocerebellar hypoplasia 4;Pontocerebellar hypoplasia 2A PE1 17 +NX_Q7Z6K1 395 45416 6.26 0 Nucleus NA PE1 7 +NX_Q7Z6K3 402 46405 6.5 0 Cytoplasm;Microtubule organizing center NA PE1 9 +NX_Q7Z6K4 114 12492 6.82 0 Nucleoplasm;Cytosol NA PE2 9 +NX_Q7Z6K5 226 24943 5.57 0 Lamellipodium NA PE1 15 +NX_Q7Z6L0 340 34945 4.64 1 Synaptic vesicle membrane;Dendritic spine;Synapse;Cell membrane;Axon;Presynaptic cell membrane;Postsynaptic density Convulsions, familial infantile, with paroxysmal choreoathetosis;Episodic kinesigenic dyskinesia 1;Seizures, benign familial infantile, 2 PE1 16 +NX_Q7Z6L1 1165 129696 5.83 0 Cytoplasmic vesicle;Autophagosome membrane;Lysosome membrane NA PE1 7 +NX_Q7Z6M1 372 40565 5.8 0 Endosome membrane;Cytoplasm;Cell membrane NA PE1 9 +NX_Q7Z6M2 555 62630 6.95 0 Nucleoplasm NA PE1 14 +NX_Q7Z6M3 343 38735 7.91 1 Cell membrane NA PE1 17 +NX_Q7Z6M4 381 43958 4.71 0 Mitochondrion;Cytosol NA PE1 2 +NX_Q7Z6P3 1021 110850 5 0 Cell membrane NA PE1 6 +NX_Q7Z6R9 452 49578 8.41 0 Nucleus NA PE2 6 +NX_Q7Z6V5 191 21046 6.34 0 Nucleoplasm;Cytosol;Golgi apparatus NA PE1 6 +NX_Q7Z6W1 182 20071 8.9 1 Membrane NA PE1 1 +NX_Q7Z6W7 309 35434 5.34 0 NA NA PE2 22 +NX_Q7Z6Z6 429 47912 6.31 0 NA NA PE2 22 +NX_Q7Z6Z7 4374 481891 5.1 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Mental retardation, X-linked 17;Mental retardation, X-linked, syndromic, Turner type PE1 X +NX_Q7Z713 158 16872 5.75 0 Cytosol;Cytoplasm;Mitochondrion;Nucleus NA PE1 4 +NX_Q7Z736 793 85317 8.07 0 Golgi apparatus NA PE1 17 +NX_Q7Z739 585 63861 9.07 0 Cytosol;Cytoplasm;Nucleus membrane;Nucleus speckle NA PE1 8 +NX_Q7Z745 1585 180781 5.9 0 Cytoplasm;Flagellum;Acrosome NA PE1 5 +NX_Q7Z769 313 35066 9.29 9 Membrane NA PE2 12 +NX_Q7Z794 578 61901 5.73 0 Cell membrane;Nucleus membrane NA PE1 12 +NX_Q7Z7A1 2325 268886 5.44 0 Cytosol;Midbody ring;Centrosome NA PE1 9 +NX_Q7Z7A3 348 36450 9.48 0 Cytoplasm NA PE1 19 +NX_Q7Z7A4 578 64950 9.41 0 Cytosol;Cytoplasm;Cell membrane;Microtubule organizing center NA PE1 3 +NX_Q7Z7B0 1213 138109 8.46 0 Cytoskeleton;Cell membrane NA PE1 6 +NX_Q7Z7B1 504 56882 9.31 12 Endoplasmic reticulum membrane;Cell membrane Glycosylphosphatidylinositol biosynthesis defect 11 PE1 17 +NX_Q7Z7B7 95 10610 9.72 0 Secreted NA PE1 20 +NX_Q7Z7B8 93 10650 9.08 0 Secreted NA PE2 20 +NX_Q7Z7C7 330 36908 4.97 0 Cytoplasm;Nucleus NA PE1 7 +NX_Q7Z7C8 310 34262 6.03 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 6 +NX_Q7Z7D3 282 30878 5.2 1 Focal adhesion;Cell junction;Cell membrane NA PE1 1 +NX_Q7Z7E8 422 46127 4.96 0 Nucleoplasm;Cytosol;Nucleus;Centrosome;Filopodium NA PE1 1 +NX_Q7Z7F0 614 64845 8.84 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q7Z7F7 128 15128 11.15 0 Cytoplasmic vesicle;Mitochondrion;Golgi apparatus NA PE1 1 +NX_Q7Z7G0 1075 118642 9.48 0 Secreted NA PE1 3 +NX_Q7Z7G1 428 49554 9.11 0 Cytoplasmic vesicle NA PE1 4 +NX_Q7Z7G2 160 18336 4.54 0 Synapse;Membrane NA PE1 18 +NX_Q7Z7G8 4022 448664 6.03 0 Cell junction Cohen syndrome PE1 8 +NX_Q7Z7H3 387 43900 5.28 0 Cytoplasm;Cytoskeleton;Nucleus;Cell membrane NA PE1 2 +NX_Q7Z7H5 227 25943 8.41 1 Endoplasmic reticulum membrane NA PE1 7 +NX_Q7Z7H8 261 29283 9.63 0 Mitochondrion NA PE1 17 +NX_Q7Z7J5 298 33784 9.35 0 Nucleus NA PE1 3 +NX_Q7Z7J7 247 27007 6.85 4 Dendrite;Postsynaptic cell membrane;Nucleus;Golgi apparatus NA PE1 3 +NX_Q7Z7J9 78 8553 5.22 0 Synaptosome;Postsynaptic density NA PE1 1 +NX_Q7Z7K0 106 12490 8.89 0 Mitochondrion NA PE1 3 +NX_Q7Z7K2 595 65124 9.12 0 Mitochondrion;Nucleus NA PE1 7 +NX_Q7Z7K6 275 29946 9.78 0 Kinetochore;Spindle;Nucleus NA PE1 17 +NX_Q7Z7L1 901 102836 8 0 Nucleoplasm;Nucleus;Chromosome NA PE1 17 +NX_Q7Z7L7 766 88169 5.43 0 Cytosol NA PE1 9 +NX_Q7Z7L8 435 46114 10.04 0 Cytosol;Focal adhesion;Nucleus NA PE1 11 +NX_Q7Z7L9 614 69547 7.04 0 Cytosol;Nucleoplasm;Nucleus NA PE1 15 +NX_Q7Z7M0 2845 303100 6.45 1 Membrane Carpenter syndrome 2 PE1 19 +NX_Q7Z7M1 963 104087 8.33 7 Membrane NA PE2 9 +NX_Q7Z7M8 397 43396 8.66 1 Golgi apparatus membrane NA PE1 19 +NX_Q7Z7M9 940 106266 9.51 1 Cytosol;Cytoplasmic vesicle;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA PE1 2 +NX_Q7Z7N9 219 23550 8.1 4 Nucleus speckle;Membrane NA PE1 11 +NX_Q86SE5 291 32331 7.69 0 Nucleoplasm NA PE1 8 +NX_Q86SE8 214 24152 4.97 0 Nucleolus;Nucleus NA PE1 8 +NX_Q86SE9 256 29714 6.11 0 Nucleoplasm;Nucleolus;Nucleus;Centrosome NA PE1 10 +NX_Q86SF2 657 75389 6.67 1 Nucleus;Golgi apparatus membrane;Golgi apparatus NA PE1 4 +NX_Q86SG2 305 34297 9.51 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 2 +NX_Q86SG3 579 64785 9.23 0 Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 PE1 Y +NX_Q86SG4 172 20403 9.89 0 NA NA PE5 15 +NX_Q86SG5 101 11305 6.89 0 Cytoplasm NA PE1 1 +NX_Q86SG6 692 74806 8.02 0 Cytoplasm;Cytoskeleton;Cilium Nephronophthisis 9;Renal-hepatic-pancreatic dysplasia 2 PE1 17 +NX_Q86SG7 212 23498 9.03 0 Secreted NA PE1 2 +NX_Q86SH2 424 45873 9.31 0 Cytoplasm NA PE1 4 +NX_Q86SH4 94 10756 9.57 0 Secreted NA PE5 20 +NX_Q86SI9 138 15091 11.42 0 Cytoplasmic vesicle;Golgi apparatus;Secreted NA PE1 5 +NX_Q86SJ2 522 57934 8.73 1 Cytosol;Nucleus;Cell membrane;Golgi apparatus NA PE1 12 +NX_Q86SJ6 1040 113824 4.42 1 Desmosome;Cell membrane Hypotrichosis 6 PE1 18 +NX_Q86SK9 330 37610 9.65 4 Endoplasmic reticulum membrane NA PE1 4 +NX_Q86SM5 289 31518 9.59 7 Cell membrane NA PE2 11 +NX_Q86SM8 312 34286 8.49 7 Cell membrane NA PE2 11 +NX_Q86SP6 731 80984 6.56 7 Cell membrane NA PE2 3 +NX_Q86SQ0 1253 142158 7.06 0 Cytosol;Cytoplasm;Cell membrane;Membrane NA PE1 3 +NX_Q86SQ3 457 50903 8.7 7 Cell membrane;Secreted NA PE5 19 +NX_Q86SQ4 1221 136695 8.18 7 Cell membrane Lethal congenital contracture syndrome 9 PE1 6 +NX_Q86SQ6 560 60885 8.25 7 Membrane NA PE1 10 +NX_Q86SQ7 713 82682 5.59 0 Centriole;Cytoplasm;Cell junction;Centrosome Senior-Loken syndrome 7;Bardet-Biedl syndrome 16 PE1 1 +NX_Q86SQ9 333 38657 8.56 0 Endoplasmic reticulum membrane;Cell membrane Developmental delay and seizures with or without movement abnormalities;Retinitis pigmentosa 59 PE1 1 +NX_Q86SR1 603 68992 8.84 1 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus;Cell membrane NA PE1 5 +NX_Q86SS6 491 56188 6.79 1 Synaptic vesicle membrane NA PE1 11 +NX_Q86SU0 546 62815 9.12 1 Cytosol;Cell membrane Deafness, autosomal recessive, 42 PE1 3 +NX_Q86SX3 495 54231 8.4 0 Cytosol;Nucleoplasm;Golgi apparatus NA PE1 14 +NX_Q86SX6 157 16628 6.28 0 Mitochondrion;Mitochondrion matrix Anemia, sideroblastic, 3, pyridoxine-refractory;Spasticity, childhood-onset, with hyperglycinemia PE1 14 +NX_Q86SY8 53 5770 5.43 0 NA NA PE5 14 +NX_Q86SZ2 158 17983 8.88 0 cis-Golgi network;Endoplasmic reticulum Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy PE1 14 +NX_Q86T03 277 29470 9.24 2 Lysosome membrane;Late endosome membrane NA PE1 14 +NX_Q86T13 490 51636 5.98 1 Endoplasmic reticulum;Golgi apparatus;Membrane NA PE1 14 +NX_Q86T20 102 11550 6.49 1 Membrane NA PE1 6 +NX_Q86T23 111 12396 4.45 0 NA NA PE5 1 +NX_Q86T24 672 74484 4.97 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 X +NX_Q86T26 416 46337 9.04 1 Cell membrane;Endoplasmic reticulum NA PE1 4 +NX_Q86T29 641 74376 9.32 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 12 +NX_Q86T65 1068 123499 6.36 0 Cytosol;Nucleoplasm;Cytoplasmic vesicle NA PE1 6 +NX_Q86T75 865 99433 4.75 0 Cytoplasm NA PE2 1 +NX_Q86T82 979 110170 5.87 0 Nucleolus;Nucleus NA PE1 2 +NX_Q86T90 577 65373 8.36 0 Cytoplasmic vesicle;Nucleus speckle;Lipid droplet NA PE1 18 +NX_Q86T96 592 68254 8.89 1 Cytosol;Endoplasmic reticulum membrane;Nucleus envelope NA PE1 5 +NX_Q86TA1 216 25464 8.72 0 NA NA PE1 9 +NX_Q86TA4 180 19528 7.57 0 NA NA PE5 2 +NX_Q86TB3 2170 237013 5.14 0 Cytosol NA PE1 18 +NX_Q86TB9 770 86850 6.22 0 Cytosol;Nucleus speckle;P-body;Nucleus;PML body NA PE1 11 +NX_Q86TC9 1320 145257 6.33 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Sarcomere;Cytoskeleton;Z line Cardiomyopathy, familial restrictive 4;Nemaline myopathy 11;Cardiomyopathy, familial hypertrophic 22;Cardiomyopathy, dilated 1KK PE1 10 +NX_Q86TD4 932 100788 4.34 0 Sarcoplasmic reticulum lumen NA PE1 16 +NX_Q86TE4 346 38958 8.9 0 Cytosol;Nucleoplasm;Cell membrane;Secreted NA PE1 11 +NX_Q86TG1 271 28835 5.45 6 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA PE1 2 +NX_Q86TG7 708 80173 5.94 0 Cytosol;Cytoplasm;Nucleus NA PE1 7 +NX_Q86TH1 951 104621 6.02 0 Cytoplasmic vesicle;Secreted Geleophysic dysplasia 1 PE1 9 +NX_Q86TI0 1168 133084 6.52 0 Nucleolus;Nucleus NA PE1 4 +NX_Q86TI2 863 98263 6.01 0 Cytosol;Nucleus NA PE1 19 +NX_Q86TI4 376 40731 8.54 0 NA NA PE2 7 +NX_Q86TJ2 420 48470 7.93 0 Nucleus speckle;Nucleus NA PE1 4 +NX_Q86TJ5 538 60582 7.56 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 19 +NX_Q86TL0 474 52922 8.93 0 Mitochondrion matrix;Cytoplasm NA PE1 19 +NX_Q86TL2 294 33187 8.28 5 Endoplasmic reticulum membrane;Cytosol NA PE1 3 +NX_Q86TM3 631 71154 9.16 0 Nucleus NA PE1 X +NX_Q86TM6 617 67685 6.47 5 Nucleoplasm;Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum NA PE1 11 +NX_Q86TN4 253 27742 10.01 0 Mitochondrion NA PE1 11 +NX_Q86TP1 453 50200 5.28 0 Cytosol;Cytoplasm;Focal adhesion;Nucleus Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies PE1 1 +NX_Q86TS7 51 6040 4.72 0 NA NA PE5 14 +NX_Q86TS9 123 13664 10.27 0 Mitochondrion NA PE1 14 +NX_Q86TU6 105 12089 9.74 0 NA NA PE5 14 +NX_Q86TU7 594 67257 5.72 0 Mitochondrion;Nucleus NA PE1 14 +NX_Q86TV6 843 94179 6.43 0 Cytosol;Cell membrane NA PE1 14 +NX_Q86TW2 530 60577 8.84 0 Nucleoplasm;Secreted NA PE1 14 +NX_Q86TX2 421 46277 6.9 0 Cytoplasm NA PE1 14 +NX_Q86TY3 774 84173 4.26 1 Cell membrane;Membrane NA PE1 14 +NX_Q86TZ1 520 59379 5.95 0 Centrosome NA PE1 14 +NX_Q86U02 117 13541 6.01 1 Membrane NA PE5 14 +NX_Q86U06 439 48731 9.86 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 14 +NX_Q86U10 573 60883 5.44 0 NA NA PE1 14 +NX_Q86U17 422 46989 7.25 0 Secreted NA PE1 14 +NX_Q86U28 154 16476 5.16 0 Mitochondrion Multiple mitochondrial dysfunctions syndrome 4 PE1 14 +NX_Q86U37 167 18828 9.74 0 NA NA PE2 14 +NX_Q86U38 636 69438 6.86 0 Cytosol;Nucleolus;Nucleus NA PE1 14 +NX_Q86U42 306 32749 5.04 0 Cytoplasm;Nucleus;Nucleus speckle Oculopharyngeal muscular dystrophy PE1 14 +NX_Q86U44 580 64474 5.98 0 Cytoplasm;Nucleus;Nucleus speckle NA PE1 14 +NX_Q86U70 411 46533 6.52 0 Nucleoplasm;Nucleus NA PE1 10 +NX_Q86U86 1689 192948 6.46 0 Nucleoplasm;Nucleus Renal cell carcinoma PE1 3 +NX_Q86U90 279 29328 8.9 0 Mitochondrion;Membrane NA PE1 1 +NX_Q86UA1 669 78430 5.26 0 Nucleoplasm;Nucleus NA PE1 14 +NX_Q86UA6 219 24770 4.86 0 PML body;Nucleolus;Nucleus;Cytoplasm NA PE1 17 +NX_Q86UB2 503 56774 9.15 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 13 +NX_Q86UB9 458 52291 9.53 6 Cytoplasmic vesicle;Peroxisome membrane;Mitochondrion membrane NA PE1 11 +NX_Q86UC2 560 63687 5.53 0 Cytoplasmic vesicle;Cell membrane;Cytosol;Cilium;Cilium axoneme Ciliary dyskinesia, primary, 32 PE1 6 +NX_Q86UD0 394 42637 9.14 0 Apical cell membrane;Cytosol;Cytoplasm;Cell cortex;Nucleolus;Nucleus;Tight junction NA PE1 9 +NX_Q86UD1 273 30688 6.39 0 Nucleus NA PE1 11 +NX_Q86UD3 253 28504 8.58 2 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Early endosome membrane NA PE1 5 +NX_Q86UD4 541 61725 8.94 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE1 19 +NX_Q86UD5 537 57564 6.28 12 Synaptic vesicle membrane;Apical cell membrane;Basolateral cell membrane;Nucleoplasm;Cell membrane;Endosome membrane;Flagellum membrane;Cell junction;Mitochondrion membrane NA PE1 4 +NX_Q86UD7 250 28839 9.74 0 NA NA PE2 17 +NX_Q86UE3 836 98405 8.94 0 Cytosol;Nucleus NA PE1 19 +NX_Q86UE4 582 63837 9.33 1 Endoplasmic reticulum membrane;Nucleolus;Nucleus membrane;Endoplasmic reticulum;Perinuclear region;Tight junction NA PE1 8 +NX_Q86UE6 522 58641 7.01 1 Postsynaptic cell membrane;Cell membrane NA PE1 2 +NX_Q86UE8 772 87661 8.65 0 Cytoskeleton;Nucleus;Perinuclear region Mental retardation, autosomal dominant 57 PE1 17 +NX_Q86UF1 283 31538 6.85 4 Cytoskeleton;Cell membrane NA PE1 7 +NX_Q86UF2 777 87900 5.09 1 Membrane NA PE2 7 +NX_Q86UF4 302 34103 9.62 0 Cytoplasmic vesicle NA PE2 1 +NX_Q86UG4 719 79232 8.93 12 Cell membrane NA PE1 5 +NX_Q86UK0 2595 293237 7.89 14 Cytosol;Cytoplasmic vesicle;Nucleolus;Cell membrane;Membrane Ichthyosis, congenital, autosomal recessive 4A;Ichthyosis, congenital, autosomal recessive 4B PE1 2 +NX_Q86UK5 1308 147948 6.53 1 Cell membrane;Cilium membrane;Nucleus;Mitochondrion;Cilium;Cilium basal body Ellis-van Creveld syndrome;Acrofacial dysostosis, Weyers type PE1 4 +NX_Q86UK7 904 98637 8.75 0 Cytosol;Cell membrane NA PE1 16 +NX_Q86UL3 456 52071 9.28 2 Endoplasmic reticulum membrane NA PE1 8 +NX_Q86UL8 1455 158754 5.95 0 Cytoplasm;Late endosome;Cell membrane;Synaptosome Nephrotic syndrome 15 PE1 7 +NX_Q86UN2 441 49065 9.25 0 Cell projection;Perikaryon;Membrane raft;Cell membrane NA PE1 17 +NX_Q86UN3 420 46106 7.58 0 Axon;Dendrite;Perikaryon;Membrane raft;Cell membrane NA PE1 11 +NX_Q86UN6 197 22815 6.31 0 Cytoplasm NA PE1 X +NX_Q86UP0 819 87752 4.65 1 Cytosol;Nucleoplasm;Cell junction;Cell membrane;Microtubule organizing center NA PE1 14 +NX_Q86UP2 1357 156275 5.52 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 14 +NX_Q86UP3 3567 393730 5.94 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 8 +NX_Q86UP6 607 68153 6.05 1 Cytoplasmic vesicle;Nucleolus;Secretory vesicle membrane NA PE1 10 +NX_Q86UP8 949 107168 5.49 0 Nucleus NA PE1 7 +NX_Q86UP9 236 25769 5.69 4 Cytoplasmic vesicle;Membrane NA PE2 7 +NX_Q86UQ0 364 41189 8.61 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q86UQ4 5058 576159 6.01 14 Cytoplasmic vesicle;Cytosol;Centrosome;Membrane NA PE1 7 +NX_Q86UQ5 136 15623 7.12 1 Membrane NA PE5 18 +NX_Q86UQ8 179 19019 9.46 0 Nucleus NA PE1 7 +NX_Q86UR1 476 50933 6.06 0 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA PE1 9 +NX_Q86UR5 1692 189073 9.68 0 Synapse;Presynaptic cell membrane;Cell membrane Cone-rod dystrophy 7 PE1 6 +NX_Q86US8 1419 160462 6.66 0 Cytosol;Nucleolus;Telomere NA PE1 17 +NX_Q86UT5 571 61032 6.24 0 Cytoplasm;Cell membrane NA PE1 11 +NX_Q86UT6 975 107616 7 0 Mitochondrion;Cell junction;Cell membrane;Mitochondrion outer membrane NA PE1 11 +NX_Q86UT8 332 37974 8.48 0 Cytoplasm;Nucleus NA PE1 11 +NX_Q86UU0 1499 157129 8.79 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q86UU1 1377 151162 8.85 0 Nucleoplasm NA PE1 11 +NX_Q86UU5 652 66699 10.3 0 NA NA PE1 19 +NX_Q86UU9 113 12305 5.24 0 Secreted NA PE1 17 +NX_Q86UV5 1035 119032 5.75 0 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus;Cytosol NA PE1 1 +NX_Q86UV6 250 28547 5.84 0 NA NA PE1 7 +NX_Q86UV7 250 28517 5.95 0 NA NA PE2 7 +NX_Q86UW1 340 37735 8.89 7 Endoplasmic reticulum membrane;Cell membrane NA PE1 3 +NX_Q86UW2 128 14346 4.58 1 Mitochondrion;Cytoplasmic vesicle;Cell membrane NA PE1 15 +NX_Q86UW6 1770 198801 5.11 0 Nucleoplasm;Cytoplasm;Centrosome;Cell membrane NA PE1 4 +NX_Q86UW7 1296 147735 5.83 0 Cytoplasmic vesicle;Nucleoplasm;Cytoplasmic vesicle membrane;Synapse NA PE1 7 +NX_Q86UW8 402 42801 9.12 0 Extracellular matrix NA PE1 19 +NX_Q86UW9 622 67246 8.79 0 Nucleoplasm;Cytoplasm;Nucleus;Nucleus membrane NA PE1 7 +NX_Q86UX2 942 104576 8.47 0 Cytoplasmic vesicle;Golgi apparatus;Secreted NA PE1 10 +NX_Q86UX6 486 54994 6.16 0 NA NA PE1 10 +NX_Q86UX7 667 75953 6.53 0 Cytoplasmic vesicle;Podosome Leukocyte adhesion deficiency 3 PE1 11 +NX_Q86UY5 434 47458 9.04 0 Nucleoplasm;Cytoplasm NA PE1 8 +NX_Q86UY6 237 27194 7.06 0 Cytoplasm;Nucleus NA PE1 11 +NX_Q86UY8 548 63420 8.46 0 Cytosol;Mitochondrion NA PE1 12 +NX_Q86UZ6 589 64083 5.55 0 Nucleus NA PE1 20 +NX_Q86V15 1759 190069 6.59 0 Cytosol;Nucleoplasm;Nucleus NA PE1 1 +NX_Q86V20 835 93705 6.41 0 Nucleoplasm;Cytoskeleton;Nucleus;Chromosome NA PE1 10 +NX_Q86V21 672 75144 5.86 0 Cytoplasmic vesicle;Cytosol NA PE1 12 +NX_Q86V24 386 43884 6.11 7 Cell membrane NA PE1 12 +NX_Q86V25 355 40450 10.02 0 Cytosol;Cytoplasm;Secreted NA PE1 1 +NX_Q86V35 215 24453 4.56 1 Perinuclear region;trans-Golgi network membrane;Cell membrane NA PE1 22 +NX_Q86V40 505 57676 9.03 1 Cell membrane NA PE1 2 +NX_Q86V42 546 60104 6.12 0 Cytosol;Nucleus NA PE1 13 +NX_Q86V48 1076 120275 8.67 0 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Nucleus NA PE1 1 +NX_Q86V59 439 48161 9.09 0 Nucleoplasm;Cytosol;Nucleus NA PE1 19 +NX_Q86V71 674 78152 9.5 0 Nucleus NA PE2 19 +NX_Q86V81 257 26888 11.15 0 Nucleus speckle;Nucleus;Cytoplasm NA PE1 17 +NX_Q86V85 440 49395 7.01 7 Cytoplasmic vesicle;Membrane NA PE1 13 +NX_Q86V86 326 35891 5.75 0 Cytosol;Cytoplasm NA PE1 22 +NX_Q86V87 743 82340 5.27 0 Cytosol;Nucleoplasm NA PE1 8 +NX_Q86V88 176 20109 5.95 0 Nucleoplasm NA PE1 14 +NX_Q86V97 674 76138 5.74 0 NA NA PE1 13 +NX_Q86VB7 1156 125451 5.61 1 Cell membrane;Secreted NA PE1 12 +NX_Q86VD1 984 112881 8.11 0 Nucleus NA PE1 3 +NX_Q86VD7 318 35409 10.08 6 Mitochondrion;Mitochondrion inner membrane NA PE1 19 +NX_Q86VD9 579 63471 8.66 8 Endoplasmic reticulum membrane;Cytoplasmic vesicle NA PE2 3 +NX_Q86VE0 399 42508 10.08 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q86VE3 508 55833 5.17 0 NA NA PE1 X +NX_Q86VE9 423 47009 7.88 9 Cytoplasmic vesicle;Perinuclear region;Nucleus;Cell membrane;Golgi apparatus NA PE1 5 +NX_Q86VF2 1251 137763 7.51 0 Midbody ring;Nucleus;Z line NA PE1 1 +NX_Q86VF5 341 38730 8.86 3 Endoplasmic reticulum membrane;Perinuclear region;Centrosome NA PE1 7 +NX_Q86VF7 1730 197074 9.24 0 Centrosome NA PE1 10 +NX_Q86VG3 221 25407 4.39 0 Cytosol NA PE1 11 +NX_Q86VH2 1401 160283 6.9 0 Cytoskeleton;Cilium NA PE1 9 +NX_Q86VH4 590 67217 9.12 1 Postsynaptic cell membrane;Cell membrane NA PE1 2 +NX_Q86VH5 581 65896 9.28 1 Postsynaptic cell membrane;Cell membrane NA PE1 10 +NX_Q86VI1 746 81678 5.44 0 Cytoplasmic vesicle;Secretory vesicle;Cell membrane NA PE2 16 +NX_Q86VI3 1631 184699 7.34 0 Nucleolus;Nucleus NA PE1 1 +NX_Q86VI4 317 35123 9.05 4 Lysosome membrane;Golgi apparatus;Multivesicular body lumen;Cell membrane;Endomembrane system;Endosome membrane;Late endosome membrane;Multivesicular body membrane;Cell projection NA PE1 8 +NX_Q86VK4 478 52113 5.86 0 Nucleus NA PE1 14 +NX_Q86VL8 602 65085 8.63 13 Cell membrane;Endoplasmic reticulum NA PE1 17 +NX_Q86VM9 953 106378 8.39 0 Nucleus speckle;Nucleus NA PE1 16 +NX_Q86VN1 386 43817 6.75 0 Endosome;Late endosome;Lysosome;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Membrane;Cell junction NA PE1 13 +NX_Q86VP1 789 90877 5.3 0 Nucleoplasm;Cytosol;Nucleus NA PE1 7 +NX_Q86VP3 889 97702 6.15 0 Mitochondrion;Endoplasmic reticulum NA PE1 14 +NX_Q86VP6 1230 136376 5.52 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleoplasm NA PE1 12 +NX_Q86VQ0 697 80554 7.31 0 Cytoskeleton;Centrosome;Cilium axoneme;Cilium basal body Leber congenital amaurosis 5 PE1 6 +NX_Q86VQ1 547 58024 9.54 0 Nucleolus NA PE1 7 +NX_Q86VQ3 553 60404 4.81 0 Cytosol;Cytoplasm;Nucleus NA PE1 18 +NX_Q86VQ6 643 70683 8.13 0 Cytoplasm;Nucleus;Microsome;Endoplasmic reticulum NA PE1 3 +NX_Q86VR2 466 51396 4.83 3 Nucleoplasm;Cytosol;Nucleus membrane;Membrane NA PE1 17 +NX_Q86VR7 867 91625 7.91 1 Nucleus;Membrane NA PE1 19 +NX_Q86VR8 437 48507 10.66 0 Cytoplasmic vesicle;Secreted NA PE1 11 +NX_Q86VS3 1027 117349 9.19 0 Cytosol NA PE1 15 +NX_Q86VS8 718 83126 5.12 0 Cytosol;Cytoskeleton;Golgi apparatus;Microtubule organizing center NA PE1 8 +NX_Q86VU5 262 28809 8.71 1 Cytosol;Cell membrane;Golgi apparatus;Membrane NA PE1 10 +NX_Q86VV4 465 52211 9.15 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 5 +NX_Q86VV8 2226 248630 6.25 0 Centrosome;Cilium basal body Microcephaly, short stature, and polymicrogyria with or without seizures PE1 18 +NX_Q86VW0 696 79348 4.99 0 Cytoskeleton NA PE1 2 +NX_Q86VW1 577 64614 8.44 12 Cell membrane;Membrane NA PE1 6 +NX_Q86VW2 580 63843 6.19 0 Sarcomere;Cytoplasmic vesicle;Cell membrane NA PE1 12 +NX_Q86VX2 200 22540 5.69 0 Cytoplasmic vesicle NA PE1 20 +NX_Q86VX9 652 72895 8.43 0 Cytosol NA PE1 3 +NX_Q86VY4 417 45143 9.57 0 Cytosol;Golgi apparatus NA PE1 8 +NX_Q86VY9 491 54356 9.24 2 Membrane NA PE1 6 +NX_Q86VZ1 359 40635 9.62 7 Cell membrane NA PE1 X +NX_Q86VZ2 330 36338 7.53 0 NA NA PE1 3 +NX_Q86VZ4 500 53311 6.04 1 Mitochondrion;Membrane NA PE1 6 +NX_Q86VZ5 413 48617 8.66 5 Nucleoplasm;Cytosol;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA PE1 10 +NX_Q86VZ6 243 27079 8.63 0 Nucleolus;Nucleus NA PE1 7 +NX_Q86W10 505 59086 9.29 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 1 +NX_Q86W11 494 56364 6.24 0 Nucleoplasm;Cytosol;Nucleus NA PE1 18 +NX_Q86W24 1093 124733 6.18 0 Cytosol;Cytoplasm NA PE1 11 +NX_Q86W25 1043 118884 5.43 0 NA NA PE1 19 +NX_Q86W26 655 75032 6.81 0 Nucleoplasm;Cytoplasm;Nucleus membrane;Cell membrane NA PE1 11 +NX_Q86W28 1048 119430 8.32 0 Cytoplasm NA PE2 19 +NX_Q86W33 373 41053 5.72 7 Cytoplasmic vesicle;Membrane NA PE1 3 +NX_Q86W34 360 41263 8.41 0 Nucleoplasm;Cytosol;Nucleus NA PE1 17 +NX_Q86W42 341 37535 7.12 0 Nucleoplasm;Nucleus speckle;Nucleus Beaulieu-Boycott-Innes syndrome PE1 16 +NX_Q86W47 210 23949 6.29 2 Cytosol;Membrane NA PE1 12 +NX_Q86W50 562 63621 8.08 0 Nucleoplasm;Cytosol;Nucleus NA PE1 17 +NX_Q86W54 205 23587 7.77 0 Cytosol;Nucleoplasm;Nucleolus;Nucleus;Cytoplasm NA PE1 5 +NX_Q86W56 976 111110 6.03 0 Mitochondrion matrix;Cytoplasm;Mitochondrion;Nucleus;Cytoplasmic vesicle NA PE1 10 +NX_Q86W67 206 23752 9.07 0 NA NA PE2 2 +NX_Q86W74 232 25967 6.65 1 Cytosol;Membrane NA PE1 8 +NX_Q86W92 1011 114024 5.4 0 Cytosol;Cytoplasm;Cell membrane NA PE1 12 +NX_Q86WA6 291 32543 9.2 0 Mitochondrion NA PE1 6 +NX_Q86WA8 852 94617 6.88 0 Peroxisome matrix NA PE1 16 +NX_Q86WA9 606 65299 7.02 12 Nucleoplasm;Cytoplasmic vesicle;Lysosome membrane;Cell membrane;Golgi apparatus NA PE1 17 +NX_Q86WB0 502 55262 5.44 0 Nucleus;Nucleus membrane NA PE1 7 +NX_Q86WB7 457 50270 7.46 11 Cell membrane NA PE1 6 +NX_Q86WC4 334 37257 5.69 1 Cytosol;Cytoplasmic vesicle;Lysosome membrane;Nucleus Osteopetrosis, autosomal recessive 5 PE1 6 +NX_Q86WC6 154 17438 6.51 0 NA NA PE1 17 +NX_Q86WD7 417 46557 9.58 0 Cytoplasm;Membrane;Secreted NA PE1 14 +NX_Q86WG3 371 42120 4.54 0 Axon;Dendrite;Synapse;Mitochondrion envelope;Cytoplasm Cerebellar ataxia, cayman type PE1 19 +NX_Q86WG5 1849 208464 6.62 0 Cytosol;Cytoplasm;Cytoskeleton;Membrane;Nucleoplasm Charcot-Marie-Tooth disease 4B2 PE1 11 +NX_Q86WH2 238 27562 7.02 0 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA PE1 12 +NX_Q86WI0 220 23777 8.39 3 Membrane NA PE2 X +NX_Q86WI1 4243 465734 5.71 1 Membrane NA PE1 8 +NX_Q86WI3 1866 204595 5.99 0 Cytoplasm;Centrosome NA PE1 16 +NX_Q86WJ1 897 101000 6.45 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q86WK6 493 55239 6.22 1 Perikaryon;Nucleoplasm;Cell membrane;Axon;Dendrite;Nucleus NA PE1 1 +NX_Q86WK7 504 55250 8.11 1 Membrane NA PE1 3 +NX_Q86WK9 346 39719 6.99 7 Cytosol;Cell membrane NA PE1 1 +NX_Q86WN1 690 76942 5.23 0 Nucleoplasm;Cytosol NA PE1 5 +NX_Q86WN2 208 24414 8.75 0 Secreted NA PE2 9 +NX_Q86WP2 473 53339 6.56 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Cell membrane NA PE1 5 +NX_Q86WQ0 139 15876 5.77 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q86WR0 208 24479 6.34 0 Nucleoplasm;Cytosol;Golgi apparatus NA PE1 8 +NX_Q86WR6 236 27182 9.65 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 17 +NX_Q86WR7 435 45802 6.74 0 Cytosol;Cell membrane NA PE1 10 +NX_Q86WS3 158 17971 4.71 0 Secreted NA PE1 11 +NX_Q86WS4 652 74505 8.21 0 NA NA PE1 12 +NX_Q86WS5 348 38605 8.91 1 Membrane NA PE1 12 +NX_Q86WT1 665 76136 5.11 0 Cilium NA PE1 2 +NX_Q86WT6 500 57419 6.04 0 Cytoplasm;Nucleus;Nucleus speckle NA PE1 15 +NX_Q86WU2 507 54871 6.2 0 Mitochondrion;Cytosol NA PE1 16 +NX_Q86WV1 359 41432 4.47 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 17 +NX_Q86WV5 123 13856 7.76 0 Nucleus;Telomere NA PE1 17 +NX_Q86WV6 379 42193 6.6 4 Endoplasmic reticulum membrane;Cytoplasm;Perinuclear region;Cell membrane;Mitochondrion outer membrane STING-associated vasculopathy, infantile-onset PE1 5 +NX_Q86WW8 74 8376 8.97 0 Mitochondrion Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 PE1 2 +NX_Q86WX3 136 15434 10.75 0 Cytosol;Nucleolus;Nucleus NA PE1 22 +NX_Q86WZ0 1026 117175 9.21 0 NA NA PE1 14 +NX_Q86WZ6 799 92033 9.1 0 Nucleus;Cell membrane NA PE1 19 +NX_Q86X02 465 53010 5.7 0 Cytosol NA PE1 17 +NX_Q86X10 1494 166799 6.33 0 Nucleus speckle NA PE1 20 +NX_Q86X19 198 23046 6.3 4 Cilium membrane;Cytoskeleton NA PE1 2 +NX_Q86X24 394 45200 5.66 0 Nucleoplasm;Nucleolus;Nucleus;Chromosome NA PE1 1 +NX_Q86X27 583 65167 8.86 0 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA PE1 1 +NX_Q86X29 649 71439 8.29 1 Cytosol;Nucleoplasm;Cell membrane NA PE1 19 +NX_Q86X40 367 41912 8.18 0 Mitochondrion;Nucleus;Golgi apparatus NA PE1 15 +NX_Q86X45 466 54255 6.08 0 Cytoplasm;Cilium Ciliary dyskinesia, primary, 19 PE1 8 +NX_Q86X51 503 51894 10.15 0 Nucleoplasm NA PE1 X +NX_Q86X52 802 91784 9.31 1 Golgi stack membrane;Secreted Temtamy preaxial brachydactyly syndrome PE1 15 +NX_Q86X53 443 48984 4.68 0 Cytosol;Nucleolus;Nucleus NA PE1 8 +NX_Q86X55 608 65854 6.25 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 19 +NX_Q86X59 251 25393 10.38 0 NA NA PE1 17 +NX_Q86X60 149 16617 5.54 0 NA NA PE2 1 +NX_Q86X67 352 39688 7.11 0 Nucleus NA PE2 10 +NX_Q86X76 327 35896 7.91 0 Mitochondrion;Cytoplasm NA PE1 1 +NX_Q86X83 199 22745 6.24 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 3 +NX_Q86X95 450 52313 9.88 0 Nucleus speckle;Centrosome NA PE1 2 +NX_Q86XA0 190 21469 4.91 1 Cytoplasm;Membrane Mental retardation, autosomal recessive 44 PE1 17 +NX_Q86XA9 2040 222004 6.14 0 NA NA PE1 14 +NX_Q86XD5 332 35769 4.34 0 Cytosol;Nucleoplasm NA PE1 7 +NX_Q86XD8 727 80358 8.66 0 Golgi apparatus NA PE2 10 +NX_Q86XE0 403 46399 6.63 0 Focal adhesion;Cell junction NA PE1 11 +NX_Q86XE3 530 60711 8.35 1 Mitochondrion;Membrane NA PE1 8 +NX_Q86XE5 327 35249 8.13 0 Mitochondrion Hyperoxaluria primary 3 PE1 10 +NX_Q86XF0 187 21620 7.75 0 Mitochondrion;Mitochondrion matrix;Mitochondrion inner membrane NA PE1 3 +NX_Q86XF7 245 26763 9.83 0 Cytosol;Nucleolus;Nucleus NA PE1 19 +NX_Q86XG9 351 40546 4.95 0 Cytoplasm NA PE5 1 +NX_Q86XH1 822 95341 9.48 0 Flagellum axoneme;Nucleus NA PE1 2 +NX_Q86XI2 1143 130960 6.43 0 Nucleus speckle;Nucleus NA PE1 7 +NX_Q86XI6 285 32695 5.86 0 Cytosol NA PE1 8 +NX_Q86XI8 627 70073 8.92 0 Nucleus NA PE1 19 +NX_Q86XJ0 344 38496 8.98 4 Nucleoplasm;Membrane NA PE1 10 +NX_Q86XJ1 694 75214 9.67 0 Cytoplasm;Cytoskeleton NA PE1 12 +NX_Q86XK2 927 103585 6.53 0 Nucleus;Chromosome NA PE1 2 +NX_Q86XK3 245 28262 6.06 0 Nucleus NA PE1 10 +NX_Q86XK7 387 41811 4.59 1 Cytoplasmic vesicle;Cytosol;Membrane NA PE1 X +NX_Q86XL3 938 104114 6.66 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cell membrane Microcephaly 16, primary, autosomal recessive PE1 12 +NX_Q86XM0 798 90468 7.04 1 Flagellum membrane NA PE1 19 +NX_Q86XN6 746 87716 9.22 0 Nucleus NA PE1 19 +NX_Q86XN7 944 95698 9.06 0 Cytosol;Nucleus NA PE1 13 +NX_Q86XN8 651 64883 5.19 0 Cytoplasm;Nucleus NA PE1 19 +NX_Q86XP0 818 91952 5.33 0 Cytosol;Membrane NA PE1 15 +NX_Q86XP1 1220 134866 6.11 0 Cytoplasm;Cell membrane NA PE1 13 +NX_Q86XP3 938 102975 6.54 0 Cajal body;Nucleus speckle;Cytoplasm NA PE1 17 +NX_Q86XP6 184 20487 7.03 0 Secreted NA PE1 2 +NX_Q86XQ3 398 46422 5.88 6 Flagellum membrane NA PE1 5 +NX_Q86XR2 697 77413 8.99 0 NA NA PE1 19 +NX_Q86XR5 153 16689 8.83 1 Cytosol;Synapse;Nucleolus;Cell junction;Cell membrane NA PE1 14 +NX_Q86XR7 235 26916 4.99 0 Golgi apparatus;Cytoplasm;Early endosome membrane;Endoplasmic reticulum;Late endosome membrane;Cell membrane NA PE1 5 +NX_Q86XR8 500 57089 9.35 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Centrosome Mosaic variegated aneuploidy syndrome 2 PE1 11 +NX_Q86XS5 388 44144 6.14 0 Secreted NA PE1 11 +NX_Q86XS8 419 46405 9.12 1 Cytoplasm;Membrane NA PE1 5 +NX_Q86XT2 251 27730 9.2 0 Cytoplasmic vesicle;Late endosome membrane NA PE1 7 +NX_Q86XT4 487 54774 7.28 0 Cytoplasm NA PE1 7 +NX_Q86XT9 240 25724 8.81 1 Cell membrane NA PE1 16 +NX_Q86XU0 584 67996 9.3 0 Nucleus;Centrosome NA PE1 19 +NX_Q86XW9 330 36856 4.82 0 Cytoplasm;Cytoskeleton NA PE1 3 +NX_Q86XX4 4008 443214 5.32 1 Nucleolus;Cell membrane Fraser syndrome 1 PE1 4 +NX_Q86XZ4 545 59545 9.01 0 Cytosol;Cytoplasm NA PE1 12 +NX_Q86Y01 620 67368 9.67 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 12 +NX_Q86Y07 508 58141 8.97 1 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Endoplasmic reticulum;Mitochondrion membrane NA PE1 2 +NX_Q86Y13 1208 138604 6.45 0 Cytoplasmic vesicle;Cytoplasm NA PE1 3 +NX_Q86Y22 540 51944 6.88 1 Cell membrane NA PE1 5 +NX_Q86Y25 554 64847 8.36 0 Cytosol;Nucleus;Nucleus membrane NA PE1 5 +NX_Q86Y26 1132 120314 5.32 0 Cytoplasm;Nucleus NA PE1 15 +NX_Q86Y27 43 4711 4.58 0 Secreted NA PE2 13 +NX_Q86Y28 39 4230 4.25 0 Secreted NA PE2 21 +NX_Q86Y29 109 12112 8.59 0 Secreted NA PE2 21 +NX_Q86Y30 109 12114 9.02 0 Secreted NA PE2 21 +NX_Q86Y33 519 57335 8.76 0 NA NA PE1 5 +NX_Q86Y34 549 60861 9.01 7 Cell membrane NA PE1 16 +NX_Q86Y37 369 41064 5.08 0 Nucleoplasm NA PE1 10 +NX_Q86Y38 959 107569 9.32 1 Golgi apparatus membrane;Secreted Pseudoxanthoma elasticum;Desbuquois dysplasia 2 PE1 16 +NX_Q86Y39 141 14852 8.95 2 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency PE1 19 +NX_Q86Y46 540 58923 6.93 0 NA NA PE1 12 +NX_Q86Y56 855 93521 5.98 0 Nucleoplasm;Cytoplasm;Cytosol;Cytoplasmic granule Ciliary dyskinesia, primary, 18 PE1 7 +NX_Q86Y78 171 19118 5.69 0 Synaptosome;Secreted;Cytosol;Cytoplasm;Cell membrane;Membrane raft NA PE1 2 +NX_Q86Y79 214 22937 10.59 0 NA NA PE1 9 +NX_Q86Y82 276 31642 5.45 1 Endosome membrane;Golgi apparatus;Nucleoplasm;Early endosome membrane;Endomembrane system;Cytoplasmic vesicle;Golgi apparatus membrane;Recycling endosome membrane NA PE1 1 +NX_Q86Y91 864 94223 9.01 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA PE1 17 +NX_Q86Y97 462 52113 9.9 0 Nucleoplasm;Nucleus;Chromosome NA PE1 19 +NX_Q86YA3 2104 236602 5.81 1 Cytosol;Membrane NA PE1 4 +NX_Q86YB7 292 31126 9.03 0 Mitochondrion NA PE1 1 +NX_Q86YB8 467 53543 8.25 0 Endoplasmic reticulum membrane NA PE1 1 +NX_Q86YC2 1186 131295 6.03 0 Nucleoplasm;Nucleus Pancreatic cancer 3;Breast cancer;Fanconi anemia complementation group N PE1 16 +NX_Q86YC3 692 76366 5.75 1 Endoplasmic reticulum membrane;Cell membrane NA PE1 3 +NX_Q86YD1 416 46869 10.54 0 Perinuclear region;Nucleus;Cell membrane NA PE1 19 +NX_Q86YD3 366 39285 7.06 1 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Secreted NA PE1 11 +NX_Q86YD5 345 37419 4.74 1 Cell junction;Cell membrane NA PE1 11 +NX_Q86YD7 464 49793 9.71 0 NA NA PE1 12 +NX_Q86YE8 665 78181 9.32 0 Cytosol;Cytoskeleton;Nucleus NA PE1 19 +NX_Q86YF9 867 98664 5.8 0 Nucleoplasm;Cytoplasm;Microtubule organizing center;Centriole;Cytosol;Nucleus;Cilium basal body NA PE1 13 +NX_Q86YG4 428 48951 5.68 0 NA NA PE1 2 +NX_Q86YH2 543 61584 7.62 0 Nucleoplasm;Nucleus NA PE1 22 +NX_Q86YH6 399 44129 8.43 0 Mitochondrion;Cytosol Coenzyme Q10 deficiency, primary, 3 PE1 6 +NX_Q86YI8 300 33582 7.89 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q86YJ5 346 37772 9.36 2 Lysosome membrane;Golgi apparatus membrane NA PE1 12 +NX_Q86YJ6 484 54116 6.07 0 Secreted NA PE1 2 +NX_Q86YJ7 626 70205 6.47 0 Cytoplasmic vesicle;Late endosome;Cell membrane;Early endosome NA PE1 17 +NX_Q86YL5 185 20403 5.76 0 Cytosol;Cytoplasmic vesicle;Nucleus;Cytoplasm NA PE1 8 +NX_Q86YL7 162 16698 4.37 1 Apical cell membrane;Basolateral cell membrane;Cytosol;Invadopodium;Microvillus membrane;Lamellipodium membrane;Ruffle membrane;Membrane;Filopodium membrane;Membrane raft NA PE1 1 +NX_Q86YM7 354 40277 5.33 0 Cytosol;Cytoplasm;Synapse;Dendritic spine;Postsynaptic density NA PE1 5 +NX_Q86YN1 238 27031 9.48 4 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cytoskeleton NA PE1 9 +NX_Q86YN6 1023 113222 4.94 0 Nucleus NA PE1 5 +NX_Q86YP4 633 68063 9.95 0 Nucleoplasm;Nucleus speckle NA PE1 19 +NX_Q86YQ2 179 19456 5.33 0 Secreted NA PE5 20 +NX_Q86YQ8 564 63108 5.66 0 NA NA PE1 12 +NX_Q86YR5 675 74510 6.1 0 Endoplasmic reticulum membrane;Golgi apparatus;Cytosol;Cell membrane;Nucleoplasm;Golgi apparatus membrane NA PE1 9 +NX_Q86YR6 584 66394 6.32 0 Cell membrane NA PE2 21 +NX_Q86YR7 1114 126993 6 0 Cytosol;Cell membrane Diabetes mellitus, non-insulin-dependent PE1 3 +NX_Q86YS3 637 71928 4.78 0 Endosome;Cleavage furrow;Midbody;Cytoplasmic vesicle;Spindle;Recycling endosome membrane;Centrosome NA PE1 17 +NX_Q86YS6 212 23339 5.44 0 trans-Golgi network membrane;Golgi apparatus;Phagosome;Cell membrane;trans-Golgi network;Phagosome membrane NA PE1 3 +NX_Q86YS7 1000 110447 5.47 0 Ruffle;Cytosol;Cell cortex;Cell membrane;Microtubule organizing center;Cytoplasmic vesicle membrane NA PE1 12 +NX_Q86YT5 568 63062 8.52 12 Nucleoplasm;Cell membrane;Membrane Epileptic encephalopathy, early infantile, 25 PE1 17 +NX_Q86YT6 1006 110136 6.47 0 Cytoplasmic vesicle;Cytoplasm;Centriolar satellite;Cell membrane;Nucleus membrane Left ventricular non-compaction 7 PE1 18 +NX_Q86YT9 394 44339 6.68 1 Cell junction;Cell membrane NA PE1 11 +NX_Q86YV0 1011 111898 9.03 0 Cytoplasm;Cell cortex NA PE1 19 +NX_Q86YV5 1406 149624 6.83 0 Nucleoplasm;Cytoplasm;Cytosol;Focal adhesion;Nucleus;Centrosome NA PE1 8 +NX_Q86YV6 388 44508 5.89 0 NA NA PE1 6 +NX_Q86YV9 775 82975 5.92 0 Cytosol;Microsome membrane;Early endosome membrane;Lysosome membrane Hermansky-Pudlak syndrome 6 PE1 10 +NX_Q86YW0 608 70411 9.14 0 Perinuclear region;Nucleus Spermatogenic failure 17 PE1 12 +NX_Q86YW5 311 32679 5.7 1 Cytoplasm;Cell membrane NA PE1 6 +NX_Q86YW7 130 14232 8 0 Secreted NA PE1 14 +NX_Q86YW9 2145 240120 7.97 0 Nucleolus;Nucleus NA PE1 3 +NX_Q86YZ3 2850 282390 10.05 0 Mitochondrion;Cytoplasmic granule NA PE1 1 +NX_Q86Z02 1210 130843 8.48 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Centrosome NA PE1 1 +NX_Q86Z14 1044 119808 9.28 1 Cell membrane NA PE1 4 +NX_Q86Z20 511 58629 6.86 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus membrane NA PE1 5 +NX_Q86Z23 238 24909 8.41 0 Secreted NA PE1 12 +NX_Q8HWS3 928 102461 6.11 0 Nucleolus;Nucleus Mitchell-Riley syndrome PE1 6 +NX_Q8IU53 76 8607 10.35 0 NA NA PE4 10 +NX_Q8IU54 200 21898 9.08 0 Secreted NA PE1 19 +NX_Q8IU57 520 57653 4.89 1 Cytosol;Membrane NA PE1 1 +NX_Q8IU60 420 48423 8.21 0 Cytosol;Nucleoplasm;P-body;Nucleus;Cell junction NA PE1 5 +NX_Q8IU68 726 81641 9.49 8 Endoplasmic reticulum membrane;Golgi apparatus Epidermodysplasia verruciformis PE1 17 +NX_Q8IU80 811 90000 6.25 1 Cell membrane Iron-refractory iron deficiency anemia PE1 22 +NX_Q8IU81 584 61688 8.52 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8IU85 385 42914 6.77 0 Cytosol;Cytoplasm;Nucleus NA PE1 10 +NX_Q8IU89 383 46316 7.63 6 Nucleoplasm;Nucleus membrane Ichthyosis, congenital, autosomal recessive 9 PE1 15 +NX_Q8IU99 346 38264 8.53 4 Endoplasmic reticulum membrane;Cell membrane NA PE1 10 +NX_Q8IUA0 241 27824 8.43 0 Secreted NA PE1 20 +NX_Q8IUA7 1624 184362 6.49 14 Endoplasmic reticulum;Membrane NA PE1 17 +NX_Q8IUB2 231 24687 7.58 0 Secreted NA PE2 20 +NX_Q8IUB3 73 8325 8.82 0 Secreted NA PE2 20 +NX_Q8IUB5 93 10386 8.41 0 Secreted NA PE2 20 +NX_Q8IUB9 90 9008 8.45 0 NA NA PE2 21 +NX_Q8IUC0 172 18320 8.54 0 NA NA PE1 21 +NX_Q8IUC1 163 17085 8.32 0 NA NA PE1 21 +NX_Q8IUC2 63 6826 7.6 0 NA NA PE1 21 +NX_Q8IUC3 87 9288 8.57 0 NA NA PE1 21 +NX_Q8IUC4 686 76993 6.35 0 Perinuclear region NA PE1 19 +NX_Q8IUC6 712 76422 5.24 0 Nucleolus;Cytosol;Cell membrane;Nucleus;Autophagosome;Mitochondrion Encephalopathy, acute, infection-induced, Herpes-specific, 6 PE1 19 +NX_Q8IUC8 556 64051 6.41 1 Golgi apparatus membrane NA PE1 2 +NX_Q8IUD2 1116 128086 5.72 0 Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Golgi apparatus membrane;Membrane NA PE1 12 +NX_Q8IUD6 432 47888 6.37 0 Cytoplasmic vesicle;Cytoplasm Macrocephaly, macrosomia, facial dysmorphism syndrome PE1 17 +NX_Q8IUE0 185 20814 9.84 0 Nucleus NA PE1 Y +NX_Q8IUE1 241 26675 9.13 0 Nucleoplasm;Nucleus NA PE1 X +NX_Q8IUE6 130 13995 10.88 0 Nucleus;Chromosome NA PE1 1 +NX_Q8IUF1 395 44034 4.79 0 NA NA PE1 2 +NX_Q8IUF8 465 52800 6.23 0 Nucleolus;Nucleus NA PE1 3 +NX_Q8IUG1 177 18184 5.53 0 NA NA PE2 17 +NX_Q8IUG5 2567 285215 6.45 0 Nucleoplasm;Cytoplasm;Sarcomere;Nucleus;Centrosome Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism PE1 22 +NX_Q8IUH2 290 32109 9.18 0 Secreted NA PE1 2 +NX_Q8IUH3 476 53502 6.74 0 Cytoplasm;Nucleus NA PE1 2 +NX_Q8IUH4 622 70861 8.39 6 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Golgi apparatus membrane NA PE1 11 +NX_Q8IUH5 632 72640 7.29 6 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Golgi apparatus membrane;Presynaptic cell membrane;Golgi apparatus NA PE1 12 +NX_Q8IUH8 684 74503 6.28 9 Endoplasmic reticulum membrane;Membrane NA PE1 17 +NX_Q8IUI4 249 27226 4.8 0 NA NA PE5 16 +NX_Q8IUI8 442 49766 5.01 0 Cytosol;Cytoplasm;Cell membrane NA PE1 17 +NX_Q8IUK5 500 55760 5.49 1 Cytoplasm;Cell membrane;Tight junction;Secreted NA PE1 17 +NX_Q8IUK8 224 24084 8.8 0 Secreted NA PE1 18 +NX_Q8IUL8 1156 126291 8.63 0 Extracellular matrix NA PE1 19 +NX_Q8IUM7 802 87117 4.53 0 Nucleus NA PE1 11 +NX_Q8IUN9 316 35446 5.66 1 Membrane NA PE1 17 +NX_Q8IUQ0 354 40788 6.68 0 Clathrin-coated vesicle;Early endosome membrane;trans-Golgi network membrane NA PE1 8 +NX_Q8IUQ4 282 31123 6.35 0 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA PE1 16 +NX_Q8IUR0 188 20783 9.69 0 Cytoplasmic vesicle;cis-Golgi network;Endoplasmic reticulum NA PE1 19 +NX_Q8IUR5 882 98847 9.05 9 Cytosol;Nucleoplasm;Membrane NA PE1 12 +NX_Q8IUR6 639 72149 4.76 0 Nucleus NA PE1 5 +NX_Q8IUR7 673 75509 6.28 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA PE1 3 +NX_Q8IUS5 362 42324 8.64 1 Cytoplasmic vesicle;Membrane NA PE1 1 +NX_Q8IUW3 424 46179 5.35 0 Nucleoplasm;Mitochondrion;Cytosol NA PE1 16 +NX_Q8IUW5 271 29340 8.57 1 Cytoskeleton;Cell membrane NA PE1 4 +NX_Q8IUX1 230 25943 8.96 4 Mitochondrion;Mitochondrion membrane NA PE1 11 +NX_Q8IUX4 373 45020 6.85 0 Cytoplasm;P-body NA PE1 22 +NX_Q8IUX7 1158 130929 5.05 0 Secreted;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm;Nucleus Ehlers-Danlos syndrome, classic-like, 2 PE1 7 +NX_Q8IUX8 553 61317 8.45 0 Basement membrane NA PE1 X +NX_Q8IUY3 354 40249 8.73 1 Cytosol;Nucleus speckle;Endoplasmic reticulum membrane;Nucleolus;Cell membrane NA PE1 15 +NX_Q8IUZ0 686 78894 7.94 0 Cytoskeleton NA PE1 15 +NX_Q8IUZ5 450 49711 6.28 0 Mitochondrion Phosphohydroxylysinuria PE1 5 +NX_Q8IV01 421 46537 5.37 1 Synaptic vesicle membrane NA PE1 11 +NX_Q8IV03 231 24583 4.98 0 Nucleolus;Nucleus NA PE1 9 +NX_Q8IV04 446 49712 9.03 0 Nucleus NA PE1 11 +NX_Q8IV08 490 54705 6.02 1 Endoplasmic reticulum membrane Spinocerebellar ataxia 46 PE1 19 +NX_Q8IV13 435 48406 7.28 0 Nucleus speckle NA PE2 5 +NX_Q8IV16 184 19806 4.71 0 Apical cell membrane;Basolateral cell membrane;Cell membrane Hyperlipoproteinemia 1D PE1 8 +NX_Q8IV20 430 47780 6.64 0 Peroxisome Rheumatoid arthritis systemic juvenile PE1 13 +NX_Q8IV31 216 23729 4.7 1 Focal adhesion;Cell membrane;Membrane NA PE1 7 +NX_Q8IV32 467 49648 11.8 0 Nucleus membrane NA PE1 3 +NX_Q8IV33 1275 147735 6.18 0 NA NA PE1 5 +NX_Q8IV35 697 79295 8.76 0 NA NA PE2 3 +NX_Q8IV36 788 88745 5.69 0 Cytosol;Cytoplasm;Golgi apparatus membrane;Golgi apparatus NA PE1 17 +NX_Q8IV38 441 49299 5.88 0 Cytosol;Cytoplasm;Nucleus;Cilium;Nucleoplasm NA PE1 7 +NX_Q8IV42 348 39527 8.62 0 Cytoskeleton;Nucleolus;Nucleus NA PE1 10 +NX_Q8IV45 518 57818 6.21 1 Cytoplasm;Centrosome;Membrane NA PE1 6 +NX_Q8IV48 349 40064 6.29 0 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA PE1 8 +NX_Q8IV50 215 23463 5.27 0 Mitochondrion;Nucleus NA PE1 15 +NX_Q8IV53 801 87065 5.46 0 Cytosol;Clathrin-coated vesicle NA PE1 19 +NX_Q8IV56 129 13715 9.64 0 Cytoplasmic vesicle;Cell junction NA PE1 7 +NX_Q8IV61 690 78332 6.33 0 Nucleoplasm;Golgi apparatus NA PE1 2 +NX_Q8IV63 474 52881 9.21 0 Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_Q8IV76 773 87428 4.96 0 Nucleus speckle;Nucleus NA PE1 X +NX_Q8IV77 575 65999 5.4 6 Membrane NA PE1 11 +NX_Q8IVA1 136 14547 4.67 0 Cytoplasmic vesicle;Nucleus speckle NA PE1 19 +NX_Q8IVB4 645 72565 5.8 13 Late endosome membrane Autism 16 PE1 3 +NX_Q8IVB5 337 36563 8.8 0 Cytosol NA PE1 1 +NX_Q8IVC4 421 48272 9.05 0 Nucleus speckle;Nucleus NA PE1 19 +NX_Q8IVD9 361 40822 5.16 0 Cytosol;Nucleus;Cell membrane NA PE1 7 +NX_Q8IVE0 287 33334 10.84 0 NA NA PE5 1 +NX_Q8IVE3 1493 168229 7.5 0 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Lamellipodium;Cytoskeleton NA PE1 2 +NX_Q8IVF1 878 93890 8.6 0 NA NA PE2 10 +NX_Q8IVF2 5795 616629 5.2 0 Cytosol;Nucleus;Cell membrane NA PE1 14 +NX_Q8IVF4 4471 514841 5.64 0 Cilium axoneme NA PE1 12 +NX_Q8IVF5 1701 190103 6.8 0 Nucleolus;Nucleoplasm;Cytoplasm;Cytosol;Filopodium;Lamellipodium;Growth cone NA PE1 6 +NX_Q8IVF6 992 115597 7.92 0 NA NA PE2 9 +NX_Q8IVF7 1028 117213 6.23 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus;Cell membrane NA PE1 12 +NX_Q8IVG5 1584 184533 8.25 0 Cytosol;Early endosome Ataxia-pancytopenia syndrome PE1 7 +NX_Q8IVG9 24 2687 9.49 0 Cytoplasm;Secreted NA PE1 MT +NX_Q8IVH2 680 73488 5.97 0 Cytosol;Nucleoplasm;Nucleus NA PE1 6 +NX_Q8IVH4 418 46538 9.37 0 Cytosol;Mitochondrion Methylmalonic aciduria type cblA PE1 4 +NX_Q8IVH8 894 101316 7.38 0 Centrosome NA PE1 2 +NX_Q8IVI9 506 57660 9.08 0 Cytoplasmic vesicle;Nucleus speckle;Cytoskeleton;Nucleus;Cell membrane NA PE1 2 +NX_Q8IVJ1 513 54901 5.12 10 Mitochondrion;Cell membrane NA PE1 1 +NX_Q8IVJ8 170 18525 10.7 1 Membrane NA PE2 3 +NX_Q8IVK1 47 5018 9.3 0 NA NA PE5 12 +NX_Q8IVL0 2385 255648 8.92 0 Cytosol;Nucleus membrane;Nucleus outer membrane NA PE1 12 +NX_Q8IVL1 2488 268167 9.13 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q8IVL5 708 80984 5.48 0 Sarcoplasmic reticulum;Endoplasmic reticulum;Golgi apparatus Myopia, high, with cataract and vitreoretinal degeneration PE1 3 +NX_Q8IVL6 736 81837 5.93 0 Cytosol;Nucleolus;Cell membrane;Endoplasmic reticulum NA PE1 12 +NX_Q8IVL8 374 42529 6.6 0 Apical cell membrane NA PE1 2 +NX_Q8IVM0 306 35822 6.2 0 Cytosol;Cytoplasm Deafness, autosomal dominant, 44 PE1 3 +NX_Q8IVM7 164 18094 9.29 0 NA NA PE5 13 +NX_Q8IVM8 553 62169 8.4 12 Basolateral cell membrane NA PE1 11 +NX_Q8IVN3 82 8911 9.87 0 Nucleus NA PE1 3 +NX_Q8IVN8 264 29610 7.71 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 8 +NX_Q8IVP5 155 17178 8.67 3 Mitochondrion outer membrane NA PE1 X +NX_Q8IVP9 402 45956 8.71 0 Nucleus NA PE1 19 +NX_Q8IVQ6 265 31385 8.81 4 Cytosol;Golgi apparatus;Membrane NA PE1 9 +NX_Q8IVS2 390 42962 8.97 0 Mitochondrion NA PE1 22 +NX_Q8IVS8 523 55253 6.25 0 Mitochondrion;Cytoplasm;Cytosol;Golgi apparatus D-glyceric aciduria PE1 3 +NX_Q8IVT2 679 75357 6.36 0 Focal adhesion;Cell cortex;Cytoskeleton;Cell membrane NA PE1 19 +NX_Q8IVT5 923 102160 8.94 0 Endoplasmic reticulum membrane;Cytoplasm;Cell membrane;Ruffle membrane;Membrane NA PE1 17 +NX_Q8IVU1 814 86724 7.58 1 Membrane NA PE1 15 +NX_Q8IVU3 1022 115126 8.22 0 Cytosol;Nucleus NA PE1 4 +NX_Q8IVU9 208 23883 4.36 0 Nucleoplasm;Cytoplasm;Cytosol;Flagellum;Centrosome NA PE1 10 +NX_Q8IVV2 2067 235677 5.38 0 Stereocilium Deafness, autosomal recessive, 77 PE1 18 +NX_Q8IVV7 300 33514 9.26 0 Cytosol NA PE1 17 +NX_Q8IVV8 208 23240 5.43 3 Cell membrane NA PE2 20 +NX_Q8IVW1 177 19388 9.85 0 Golgi apparatus NA PE1 17 +NX_Q8IVW4 592 67514 9.35 0 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm NA PE1 5 +NX_Q8IVW6 561 60637 7.05 0 Nucleoplasm;Nucleus NA PE1 15 +NX_Q8IVW8 549 58044 9.43 11 Membrane NA PE1 17 +NX_Q8IVY1 113 12024 5.46 1 Recycling endosome;Membrane;Nucleolus;Cell membrane;Early endosome NA PE1 1 +NX_Q8IW00 320 36146 9.88 1 Cytoplasmic vesicle;Nucleus;Cell membrane;Secreted NA PE1 10 +NX_Q8IW03 269 30660 7.21 0 Mitochondrion NA PE2 13 +NX_Q8IW19 511 56956 4.98 0 Nucleoplasm;Cytosol;Nucleus NA PE1 2 +NX_Q8IW35 865 96981 4.92 0 Cytosol;Centrosome;Microtubule organizing center NA PE1 3 +NX_Q8IW36 515 60149 8.98 0 Nucleus speckle;Nucleus NA PE1 1 +NX_Q8IW40 242 27163 5.74 0 Cytosol;Cytoplasm;Flagellum Ciliary dyskinesia, primary, 17 PE1 17 +NX_Q8IW41 473 54220 7.66 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 12 +NX_Q8IW45 347 36576 8.21 0 Mitochondrion NA PE1 13 +NX_Q8IW50 185 20400 4.53 0 Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus NA PE1 9 +NX_Q8IW52 837 94331 7.95 1 Cytoskeleton;Cell membrane;Membrane NA PE1 X +NX_Q8IW70 566 61506 6.72 2 Membrane NA PE1 6 +NX_Q8IW75 414 47175 9.31 0 Secreted NA PE1 14 +NX_Q8IW92 636 72079 7.2 0 Nucleus;Secreted NA PE1 11 +NX_Q8IW93 802 89197 7.31 0 Nucleus NA PE1 1 +NX_Q8IWA0 830 94499 5.65 0 Nucleoplasm;Nucleolus NA PE1 2 +NX_Q8IWA4 741 84160 5.93 2 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA PE1 3 +NX_Q8IWA5 706 80124 8.89 10 Cytoplasmic vesicle;Cell junction;Membrane NA PE1 19 +NX_Q8IWA6 550 63091 9.71 0 NA NA PE1 12 +NX_Q8IWB1 547 62060 5.58 0 Cytoplasmic vesicle;Cell membrane NA PE1 10 +NX_Q8IWB4 1347 148734 8.96 1 Membrane NA PE2 9 +NX_Q8IWB6 1497 167901 5.04 0 Kinetochore;Cytosol;Cytoplasm;Cell membrane;Cell junction;Cytoplasmic vesicle;Midbody Spermatogenic failure 23 PE1 17 +NX_Q8IWB7 410 46324 6.99 0 Early endosome NA PE1 2 +NX_Q8IWB9 1127 125303 5.71 2 Nucleus;Membrane NA PE1 17 +NX_Q8IWC1 876 98429 9.34 0 Spindle;Centrosome NA PE1 X +NX_Q8IWD4 279 30541 4.99 0 Cytosol;Cytoskeleton;Nucleus NA PE1 22 +NX_Q8IWD5 586 64005 8.87 11 Endoplasmic reticulum;Membrane NA PE2 17 +NX_Q8IWE2 563 60742 4.61 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA PE1 4 +NX_Q8IWE4 304 34291 5.05 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 16 +NX_Q8IWE5 1019 112780 4.82 0 Cytoplasm NA PE1 1 +NX_Q8IWF2 684 77791 7.39 0 Endoplasmic reticulum lumen NA PE1 22 +NX_Q8IWF6 608 69575 8.52 0 Cytoplasmic vesicle;Cytoplasm;Recycling endosome NA PE1 3 +NX_Q8IWF7 75 8761 8.85 0 NA NA PE5 X +NX_Q8IWF9 413 48851 5.33 0 Cytosol;Nucleus;Cell membrane NA PE1 11 +NX_Q8IWG1 891 102935 5.52 0 NA NA PE1 1 +NX_Q8IWI9 3026 331836 6.35 0 Cytosol;Nucleoplasm;Nucleus NA PE1 15 +NX_Q8IWJ2 1684 195910 5.1 0 Nucleoplasm;Cytoplasm;trans-Golgi network membrane;Golgi apparatus NA PE1 2 +NX_Q8IWK6 1321 146151 8.8 7 Membrane NA PE1 4 +NX_Q8IWL1 248 26182 5.07 0 Surface film;Extracellular matrix Pulmonary fibrosis, idiopathic PE1 10 +NX_Q8IWL2 248 26242 4.89 0 Surface film;Extracellular matrix Pulmonary fibrosis, idiopathic;Respiratory distress syndrome in premature infants PE1 10 +NX_Q8IWL3 235 27422 7.59 0 Cytosol;Cytoplasm;Mitochondrion;Nucleus NA PE1 22 +NX_Q8IWL8 128 13652 4.72 0 Cytoplasm;Nucleus NA PE1 17 +NX_Q8IWN6 122 13808 9.87 0 NA NA PE2 X +NX_Q8IWN7 2400 252289 4.41 0 Photoreceptor outer segment;Cilium axoneme Occult macular dystrophy PE1 8 +NX_Q8IWP9 274 30367 9.32 0 Cytosol NA PE1 6 +NX_Q8IWQ3 736 81633 8.97 0 Perinuclear region;Endoplasmic reticulum;Golgi apparatus;Centrosome NA PE1 11 +NX_Q8IWR0 971 110538 7 0 Cytosol;Nucleus NA PE1 16 +NX_Q8IWR1 403 47114 6.36 1 Endoplasmic reticulum membrane NA PE1 3 +NX_Q8IWS0 365 41290 8.97 0 Kinetochore;Nucleolus;Nucleus Boerjeson-Forssman-Lehmann syndrome PE1 X +NX_Q8IWT0 167 19491 4.39 0 Cell membrane NA PE1 1 +NX_Q8IWT1 228 24969 6.9 1 Cell membrane Atrial fibrillation, familial, 17;Long QT syndrome 10 PE1 11 +NX_Q8IWT3 2517 281229 5.3 0 Cytosol;Cytoplasm NA PE1 6 +NX_Q8IWT6 810 94199 8.15 4 Cell membrane Agammaglobulinemia 5, autosomal dominant PE1 9 +NX_Q8IWU2 1503 164900 4.35 2 Cytosol;Nucleus speckle;Microtubule organizing center;Cell membrane;Membrane NA PE1 7 +NX_Q8IWU4 369 40755 6.11 6 Secretory vesicle membrane;Cell membrane;Endoplasmic reticulum NA PE1 8 +NX_Q8IWU5 870 100455 9.3 0 Cell surface;Golgi stack;Endoplasmic reticulum NA PE1 20 +NX_Q8IWU6 871 101027 9.23 0 Cell surface;Golgi stack;Endoplasmic reticulum NA PE1 8 +NX_Q8IWU9 490 56057 6.03 0 NA Major depressive disorder;Attention deficit-hyperactivity disorder 7 PE1 12 +NX_Q8IWV1 398 44085 4.85 1 Cytosol;Golgi apparatus;Cell membrane NA PE1 1 +NX_Q8IWV2 1026 113454 7.24 0 Cell membrane;Secreted NA PE1 3 +NX_Q8IWV7 1749 200211 5.67 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol Johanson-Blizzard syndrome PE1 15 +NX_Q8IWV8 1755 200538 5.84 0 Nucleoplasm;Nucleus;Cell membrane NA PE1 6 +NX_Q8IWW6 846 96254 7.29 0 NA NA PE1 10 +NX_Q8IWW8 467 50308 7.65 0 Cytoplasmic vesicle;Mitochondrion NA PE1 8 +NX_Q8IWX5 399 44741 9.17 9 Endoplasmic reticulum membrane NA PE2 2 +NX_Q8IWX7 931 103733 8.03 0 Cytosol Cataract 43 PE1 17 +NX_Q8IWX8 916 103702 9.15 0 Cytoplasm;Perinuclear region;Endoplasmic reticulum NA PE1 19 +NX_Q8IWY4 988 107910 6.42 0 Cell membrane;Secreted NA PE1 22 +NX_Q8IWY8 852 96719 6.55 0 Nucleoplasm;Cytoskeleton;Nucleus;Cell membrane NA PE1 15 +NX_Q8IWY9 1227 134120 6.35 2 Cytosol;Cytoplasm;Nucleus;Cell membrane;Membrane Anemia, congenital dyserythropoietic, 1A PE1 15 +NX_Q8IWZ3 2542 269458 5.46 0 Cytoplasm NA PE1 5 +NX_Q8IWZ4 208 24498 8.69 0 NA NA PE2 11 +NX_Q8IWZ5 723 82745 8.3 0 Mitochondrion;Nucleoplasm NA PE1 3 +NX_Q8IWZ6 715 80353 5.7 0 Cytoplasm;Centriolar satellite;Cilium membrane;Cilium basal body Bardet-Biedl syndrome 7 PE1 4 +NX_Q8IWZ8 645 72471 7.2 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8IX01 1082 120207 6.92 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8IX03 1113 125301 5.65 0 Cytoplasm;Perinuclear region;Nucleus;Ruffle membrane;Golgi apparatus NA PE1 5 +NX_Q8IX04 471 52264 6.61 0 Cytosol;Nucleus NA PE1 11 +NX_Q8IX05 232 26183 4.45 1 Microvillus;Cell cortex;Filopodium;Membrane NA PE1 2 +NX_Q8IX06 675 73855 9.33 0 Cytoplasm;Nucleus NA PE5 8 +NX_Q8IX07 1006 104888 8.14 0 Cytosol;Nucleoplasm;Nucleus NA PE1 16 +NX_Q8IX12 1150 132821 5.57 0 Perinuclear region NA PE1 10 +NX_Q8IX15 550 61240 4.86 0 Nucleolus;Nucleus NA PE1 14 +NX_Q8IX18 779 88560 8.93 0 Nucleus NA PE1 17 +NX_Q8IX19 187 21229 9.03 1 Membrane NA PE1 19 +NX_Q8IX21 1173 131873 9.09 0 Cytoplasmic vesicle;Nucleus NA PE1 10 +NX_Q8IX29 292 34588 10.05 0 Cytosol;Cytoplasmic vesicle;Cell membrane;Nucleoplasm NA PE2 8 +NX_Q8IX30 993 109282 7.85 0 Cell surface;Cell membrane;Secreted NA PE1 6 +NX_Q8IX90 412 46359 4.99 0 Kinetochore;Cytosol;Spindle;Cell membrane NA PE1 13 +NX_Q8IX94 777 87989 5.18 1 Membrane NA PE2 7 +NX_Q8IX95 158 18015 4.85 0 NA NA PE5 13 +NX_Q8IXA5 215 23431 8.27 1 Acrosome membrane;Secreted NA PE1 17 +NX_Q8IXB1 793 91080 6.78 0 Endoplasmic reticulum lumen NA PE1 2 +NX_Q8IXB3 177 19254 7.79 2 Perinuclear region;Cell membrane;Endomembrane system NA PE1 17 +NX_Q8IXE1 308 34696 7.99 7 Cell membrane NA PE3 14 +NX_Q8IXF0 933 100805 6.16 0 Nucleoplasm;Nucleus NA PE1 14 +NX_Q8IXF9 295 31475 8.49 6 Membrane NA PE2 2 +NX_Q8IXH6 220 23980 6.33 0 Cytosol;PML body;Nucleus;Autophagosome NA PE1 20 +NX_Q8IXH7 590 66247 4.98 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytosol NA PE1 20 +NX_Q8IXH8 832 92416 4.8 1 Cytoskeleton;Cell membrane NA PE1 20 +NX_Q8IXI1 618 68118 5.55 1 Cytosol;Mitochondrion outer membrane NA PE1 16 +NX_Q8IXI2 618 70784 5.87 1 Mitochondrion outer membrane NA PE1 17 +NX_Q8IXJ6 389 43182 5.22 0 Cytoskeleton;Nucleolus;Perikaryon;Centriole;Cytosol;Cytoplasm;Centrosome;Myelin membrane;Perinuclear region;Nucleus;Growth cone;Spindle;Cell projection;Midbody;Chromosome NA PE1 19 +NX_Q8IXJ9 1541 165432 5.85 0 Nucleolus;Nucleus Bohring-Opitz syndrome;Myelodysplastic syndrome PE1 20 +NX_Q8IXK0 858 90713 8.93 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q8IXK2 581 66938 6.35 1 Golgi apparatus membrane Colorectal cancer 1 PE1 9 +NX_Q8IXL6 584 66234 7.65 0 Nucleoplasm;Cytosol;Golgi apparatus;Secreted Raine syndrome PE1 7 +NX_Q8IXL7 192 20702 7.01 0 Mitochondrion;Endoplasmic reticulum Deafness, autosomal recessive, 74 PE1 12 +NX_Q8IXL9 164 19627 10.57 0 NA NA PE1 3 +NX_Q8IXM2 172 17900 6.74 0 Cytosol;Nucleoplasm;Nucleus NA PE1 17 +NX_Q8IXM3 137 15383 9.59 0 Mitochondrion NA PE1 9 +NX_Q8IXM6 262 29379 8.82 6 Nucleus inner membrane;Nucleus membrane NA PE1 6 +NX_Q8IXM7 274 31065 9.6 0 NA NA PE1 15 +NX_Q8IXN7 391 42864 6.22 0 Cytoplasm;Nucleolus NA PE1 1 +NX_Q8IXP5 236 25393 4.7 0 NA NA PE2 11 +NX_Q8IXQ3 194 21063 4.89 0 Cytosol;Cytoplasm;Centrosome;Nucleoplasm NA PE1 9 +NX_Q8IXQ4 340 38142 5.25 0 Nucleolus;Nucleus NA PE1 13 +NX_Q8IXQ5 586 65992 6.08 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Retinitis pigmentosa 42;Crisponi/Cold-induced sweating syndrome 3 PE1 7 +NX_Q8IXQ6 854 96343 8.12 0 Nucleoplasm;Cytosol;Mitochondrion;Nucleus NA PE1 3 +NX_Q8IXQ8 264 29904 8.99 0 NA NA PE2 16 +NX_Q8IXQ9 262 29461 6.05 0 Mitochondrion matrix;Cytoplasm NA PE1 12 +NX_Q8IXR5 827 93514 5.98 0 Nucleus speckle;Golgi apparatus NA PE1 2 +NX_Q8IXR9 622 71046 9.33 0 NA NA PE2 12 +NX_Q8IXS0 508 57420 8.72 0 NA NA PE2 6 +NX_Q8IXS2 484 57297 6.96 0 Flagellum basal body;Cytoplasmic vesicle;Flagellum axoneme;Flagellum;Microtubule organizing center Ciliary dyskinesia, primary, 27 PE1 12 +NX_Q8IXS6 379 42185 5.04 0 Cell membrane NA PE1 9 +NX_Q8IXS8 530 58647 8.01 0 Cytosol;Nucleus;Cell junction;Cell membrane NA PE1 2 +NX_Q8IXT1 998 111616 6.8 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 11 +NX_Q8IXT2 367 39124 9.18 0 Nucleus NA PE1 19 +NX_Q8IXT5 1001 118103 6.34 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q8IXU6 374 41212 5.86 10 Mitochondrion;Membrane NA PE1 11 +NX_Q8IXV7 354 37676 8.61 0 Cytosol;Cytoplasm;Midbody Lymphoma, Hodgkin, classic PE1 3 +NX_Q8IXW0 634 70379 9.12 0 Cytosol NA PE1 11 +NX_Q8IXW5 612 69509 7.86 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 1 +NX_Q8IXX5 376 42826 9.28 1 Membrane NA PE1 1 +NX_Q8IXY8 311 35228 6.55 0 Cytosol;Nucleus;Golgi apparatus NA PE1 6 +NX_Q8IXZ2 948 101941 10.95 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 8 +NX_Q8IXZ3 490 48674 9.1 0 Nucleus NA PE1 7 +NX_Q8IY17 1375 150954 7.89 1 Endoplasmic reticulum membrane Laurence-Moon syndrome;Oliver-McFarlane syndrome;Boucher-Neuhauser syndrome;Spastic paraplegia 39, autosomal recessive PE1 19 +NX_Q8IY18 1101 128806 8.63 0 PML body;Telomere;Nucleus;Chromosome;Nucleus speckle NA PE1 9 +NX_Q8IY21 1712 197853 7.53 0 Cytosol;Cytoplasm;Cytoskeleton NA PE1 4 +NX_Q8IY22 773 86331 6.26 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 16 +NX_Q8IY26 295 32194 10.03 4 Cytoplasmic vesicle;Nucleoplasm;Membrane NA PE1 9 +NX_Q8IY31 132 15281 5.07 0 Golgi apparatus;cis-Golgi network;Centriole;Cytoskeleton;Cilium;Cilium basal body NA PE1 17 +NX_Q8IY33 904 97502 9.63 0 Cytosol;Cell membrane;Recycling endosome;Cell projection;Cytoskeleton;Tight junction NA PE1 7 +NX_Q8IY34 581 63560 9.27 12 Cytoplasmic vesicle;Lysosome membrane NA PE1 11 +NX_Q8IY37 1157 129545 8.36 0 Nucleus membrane NA PE1 12 +NX_Q8IY42 314 33742 4.36 0 Cell junction NA PE1 4 +NX_Q8IY45 258 28408 8.15 0 Centrosome NA PE1 12 +NX_Q8IY47 623 71331 5.42 0 Cytoplasm;Nucleolus;Nucleus NA PE1 7 +NX_Q8IY49 270 31264 8.97 7 Golgi apparatus membrane NA PE1 7 +NX_Q8IY50 421 46817 9.57 10 Nucleolus;Golgi apparatus;Cell membrane;Membrane NA PE1 1 +NX_Q8IY51 512 57468 6.05 0 Cytosol;Nucleoplasm;Nucleus NA PE1 4 +NX_Q8IY57 180 19901 9.74 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q8IY63 956 106574 6.62 0 Cytosol;Cytoskeleton;Cell junction;Tight junction NA PE1 11 +NX_Q8IY67 606 63877 8.79 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 19 +NX_Q8IY81 847 96558 8.53 0 Nucleolus NA PE1 17 +NX_Q8IY82 874 103497 5.49 0 Flagellum axoneme;Flagellum;Cilium axoneme NA PE1 16 +NX_Q8IY84 436 49606 8.53 0 Cytosol NA PE1 5 +NX_Q8IY85 973 110129 6.15 0 Cytosol;Nucleus speckle;Nucleus NA PE2 17 +NX_Q8IY92 1834 200012 5.74 0 Cytosol;Nucleoplasm;Nucleus;Cell junction Fanconi anemia complementation group P PE1 16 +NX_Q8IY95 271 30922 8.13 4 Nucleoplasm;Endosome;Lysosome membrane;Late endosome;Lysosome NA PE1 4 +NX_Q8IYA2 1237 143112 5.51 0 NA NA PE5 17 +NX_Q8IYA6 745 83587 9.84 0 Cytosol;Spindle;Spindle pole Filippi syndrome PE1 2 +NX_Q8IYA7 352 39331 9.66 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 10 +NX_Q8IYA8 594 66343 8.55 0 Nucleoplasm;Chromosome NA PE1 3 +NX_Q8IYB0 196 21182 9.8 0 NA NA PE5 11 +NX_Q8IYB1 491 55800 6.58 0 Cytosol NA PE1 3 +NX_Q8IYB3 904 102335 11.84 0 Nucleus matrix;Nucleus speckle;Nucleus NA PE1 1 +NX_Q8IYB4 626 69697 5.18 0 Cytoplasm;Membrane NA PE1 3 +NX_Q8IYB5 467 50386 8.92 0 Cytosol;Golgi apparatus;Cell membrane NA PE1 6 +NX_Q8IYB7 885 99279 5.74 0 Cytoplasm;P-body Perlman syndrome PE1 2 +NX_Q8IYB8 786 87991 8.21 0 Mitochondrion;Mitochondrion matrix;Mitochondrion nucleoid;Nucleus NA PE1 10 +NX_Q8IYB9 648 74302 9.3 0 Nucleus NA PE1 4 +NX_Q8IYD1 628 68883 5.31 0 Cytosol;Cytoplasm NA PE1 X +NX_Q8IYD2 350 38859 9.36 0 NA NA PE2 1 +NX_Q8IYD8 2048 232191 5.76 0 Nucleoplasm;Nucleus NA PE1 14 +NX_Q8IYD9 372 41811 8.43 0 Nucleoplasm;Secreted NA PE1 18 +NX_Q8IYE0 955 112806 8.59 0 Centriole;Cytoplasmic vesicle;Golgi apparatus NA PE1 7 +NX_Q8IYE1 715 80884 8.82 0 Centriolar satellite;Centrosome;Cilium basal body NA PE1 3 +NX_Q8IYF1 753 83921 9.76 0 Nucleus NA PE1 18 +NX_Q8IYF3 940 107889 5.07 0 Chromosome Spermatogenic failure, X-linked, 2 PE1 X +NX_Q8IYG6 542 58733 8.05 0 NA NA PE2 11 +NX_Q8IYH5 903 102023 5.48 0 Nucleolus;Nucleus NA PE1 1 +NX_Q8IYI0 205 22938 4.72 0 Cytoplasmic vesicle;Endoplasmic reticulum;Chromosome;Golgi apparatus NA PE1 20 +NX_Q8IYI6 725 81799 5.35 0 Cytosol;Cytoplasm;Perinuclear region;Cell projection;Growth cone NA PE1 1 +NX_Q8IYI8 595 69106 9.33 0 Nucleus NA PE1 19 +NX_Q8IYJ0 282 30076 9.29 1 Nucleoplasm;Membrane NA PE1 12 +NX_Q8IYJ1 553 61864 5.18 0 NA NA PE1 3 +NX_Q8IYJ2 551 63656 8.91 0 Mitochondrion;Nucleus speckle;Nucleolus;Nucleoplasm NA PE1 10 +NX_Q8IYJ3 562 61857 5.32 0 Cell membrane NA PE1 1 +NX_Q8IYK2 499 56909 9.89 0 NA NA PE1 19 +NX_Q8IYK4 626 72924 5.82 0 Cytoplasmic vesicle;Endoplasmic reticulum lumen;Nucleus NA PE1 1 +NX_Q8IYK8 340 37139 8.33 0 Cell membrane NA PE1 14 +NX_Q8IYL2 757 84629 6.98 0 Nucleoplasm;Cytoplasm NA PE1 4 +NX_Q8IYL3 243 25977 6.45 0 Nucleus NA PE1 1 +NX_Q8IYL9 337 39333 8.12 7 Cytosol;Cell membrane NA PE1 14 +NX_Q8IYM0 893 103722 9.08 0 NA NA PE1 12 +NX_Q8IYM1 358 40748 6.67 0 Flagellum;Cytoplasm;Spindle;Nucleus;Cytoskeleton Spermatogenic failure 10 PE1 16 +NX_Q8IYM2 578 66972 8.84 0 NA NA PE1 17 +NX_Q8IYM9 498 56947 7.97 0 Nucleoplasm;Nucleus speckle;Cytoplasm;Nucleus;Cajal body NA PE1 11 +NX_Q8IYN0 542 62745 9.17 0 Nucleus NA PE1 19 +NX_Q8IYN2 117 13616 5.32 0 Nucleoplasm;Nucleus NA PE1 X +NX_Q8IYN6 164 17877 6.78 0 NA NA PE1 17 +NX_Q8IYP2 241 27085 6.36 0 Secreted NA PE1 7 +NX_Q8IYP9 409 45983 8.97 6 Nucleus;Membrane NA PE1 3 +NX_Q8IYQ7 743 83070 6.69 0 Cytosol;Mitochondrion;Nucleus NA PE1 10 +NX_Q8IYR0 622 71193 6.38 0 Nucleoplasm;Cell junction;Cilium axoneme NA PE1 6 +NX_Q8IYR2 804 89225 6.39 0 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA PE1 17 +NX_Q8IYR6 380 40934 6.27 1 Cell membrane NA PE1 9 +NX_Q8IYS0 662 76035 6.81 1 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA PE1 3 +NX_Q8IYS1 436 47776 5.56 0 Nucleoplasm NA PE1 6 +NX_Q8IYS2 634 69157 8.44 1 Cytosol;Golgi apparatus;Membrane NA PE1 1 +NX_Q8IYS4 520 55682 4.83 0 Nucleus speckle NA PE1 16 +NX_Q8IYS5 282 30481 6.09 0 Cell membrane;Secreted NA PE1 19 +NX_Q8IYS8 172 18075 5.1 0 Kinetochore;Centrosome NA PE1 18 +NX_Q8IYT1 594 63177 9.67 0 NA NA PE1 1 +NX_Q8IYT2 770 88120 6.57 0 Nucleus speckle;Nucleus;Cell junction;Cytoplasm NA PE1 16 +NX_Q8IYT3 715 82277 6.22 0 Cell junction;Golgi apparatus NA PE1 6 +NX_Q8IYT4 538 61253 7.22 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Spindle pole;Spindle NA PE1 18 +NX_Q8IYT8 1036 112694 8.84 0 Cytoplasmic vesicle membrane NA PE1 17 +NX_Q8IYU2 909 102342 5.58 0 Golgi stack membrane;Nucleus;Endoplasmic reticulum;Cytoplasm Spastic paraplegia and psychomotor retardation with or without seizures PE1 6 +NX_Q8IYU4 475 52897 5.67 0 NA NA PE1 11 +NX_Q8IYU8 434 49666 9.17 0 Mitochondrion;Nucleus;Mitochondrion intermembrane space NA PE1 13 +NX_Q8IYV9 350 38930 6.11 1 Acrosome membrane;Cell membrane NA PE1 19 +NX_Q8IYW2 2715 303500 7.07 0 Cilium axoneme NA PE1 10 +NX_Q8IYW4 607 67538 6.16 0 NA NA PE1 22 +NX_Q8IYW5 571 65020 8.26 0 Nucleoplasm;Nucleus Riddle syndrome PE1 3 +NX_Q8IYX0 411 47179 9.17 0 Nucleus NA PE1 7 +NX_Q8IYX1 336 39221 5.81 0 Cytoskeleton;Acrosome NA PE1 15 +NX_Q8IYX3 613 67946 8.83 0 Centrosome NA PE1 22 +NX_Q8IYX4 353 38687 9.74 0 Cytoplasm;Nucleus NA PE1 5 +NX_Q8IYX7 474 54621 8.68 0 Centriole;Flagellum axoneme;Centrosome;Cilium axoneme;Cilium basal body NA PE1 9 +NX_Q8IYX8 460 53649 8.82 0 Cytosol;Centrosome;Cell membrane NA PE1 6 +NX_Q8IYY4 767 86848 6.85 0 Centriole;Nucleoplasm;Cytoskeleton;Cilium basal body Polycystic kidney disease 5 PE1 3 +NX_Q8IZ02 464 51277 6.32 0 Cytoplasm;Cytoskeleton;Nucleolus;Nucleus;Cell junction NA PE1 3 +NX_Q8IZ07 590 67619 4.93 0 Late endosome;Cell membrane NA PE1 12 +NX_Q8IZ08 494 51736 9.88 7 Endosome membrane;Cell membrane NA PE1 14 +NX_Q8IZ13 594 68327 5.98 0 Nucleoplasm NA PE1 5 +NX_Q8IZ16 206 23862 10.41 0 Cytoplasmic vesicle NA PE1 7 +NX_Q8IZ20 524 56905 9.01 0 Nucleus NA PE1 1 +NX_Q8IZ21 702 78211 6.2 0 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane;Lamellipodium NA PE1 1 +NX_Q8IZ26 560 64038 9.05 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 8 +NX_Q8IZ40 523 58012 9.08 0 Cytoplasmic vesicle;Nucleus;Midbody NA PE1 11 +NX_Q8IZ41 740 82879 4.99 0 Perinuclear region;Cytoskeleton NA PE1 9 +NX_Q8IZ52 775 85467 6.45 1 Golgi stack membrane;Cytosol;Cytoplasmic vesicle;Mitochondrion matrix;Mitochondrion;Centrosome NA PE1 2 +NX_Q8IZ57 195 21475 7.61 2 Cytoplasmic vesicle;Nucleus;Membrane NA PE1 6 +NX_Q8IZ63 422 43980 4.97 0 Cytosol;Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_Q8IZ69 625 68726 8.21 0 Cytosol;Nucleus NA PE1 22 +NX_Q8IZ73 545 61311 6.72 0 Nucleoplasm;Cytoskeleton NA PE1 15 +NX_Q8IZ81 293 34961 8.12 0 Cytosol;Nucleolus;Nucleus NA PE1 4 +NX_Q8IZ83 802 85127 6.35 0 Mitochondrion NA PE1 19 +NX_Q8IZ96 169 18576 6.5 4 Nucleoplasm;Membrane NA PE1 16 +NX_Q8IZA0 1049 115658 5.71 2 Nucleolus;trans-Golgi network membrane;Cytoplasmic granule membrane;Golgi apparatus;Cell membrane;Golgi apparatus membrane NA PE1 1 +NX_Q8IZA3 346 35813 11.27 0 Cytoplasm;Nucleus;Chromosome NA PE2 3 +NX_Q8IZC4 609 69304 8.03 0 Mitochondrion;Nucleoplasm NA PE1 10 +NX_Q8IZC6 1860 186892 9.83 0 Extracellular matrix Steel syndrome PE1 9 +NX_Q8IZC7 436 50339 9.67 0 Nucleus NA PE1 19 +NX_Q8IZD0 417 45056 9.41 0 Nucleolus;Nucleus NA PE1 17 +NX_Q8IZD2 1858 204965 7.41 0 Nucleus speckle;Nucleoplasm;Cytoplasm;Cell membrane;Centrosome;Chromosome NA PE1 7 +NX_Q8IZD4 617 67723 8.75 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus NA PE1 12 +NX_Q8IZD6 547 60540 5.41 12 Membrane NA PE1 1 +NX_Q8IZD9 2030 233103 6.52 0 Cytosol;Cytoplasm NA PE1 3 +NX_Q8IZE3 742 82857 4.96 0 Cytoplasm;Cytoskeleton;Nucleus;Golgi apparatus;Lamellipodium NA PE1 1 +NX_Q8IZF0 1738 200331 8.93 24 Membrane Congenital contractures of the limbs and face, hypotonia, and developmental delay;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PE1 13 +NX_Q8IZF2 1346 149457 6.23 7 Cell membrane NA PE1 6 +NX_Q8IZF3 695 77719 9.23 7 Mitochondrion;Membrane NA PE1 6 +NX_Q8IZF4 528 59000 8.69 7 Cytoplasmic vesicle;Nucleoplasm;Cell membrane;Nucleus membrane NA PE1 16 +NX_Q8IZF5 1079 116341 7.44 7 Membrane NA PE2 2 +NX_Q8IZF6 3080 333368 5.82 7 Membrane NA PE2 X +NX_Q8IZF7 708 78569 8.45 7 Membrane NA PE2 6 +NX_Q8IZH2 1706 194107 6.78 0 Cytosol;Cytoplasm;Cell membrane NA PE1 3 +NX_Q8IZI9 196 21706 8.69 0 Secreted NA PE1 19 +NX_Q8IZJ0 200 22288 8.15 0 Secreted NA PE2 19 +NX_Q8IZJ1 945 103638 5.68 1 Membrane raft;Cell membrane NA PE1 10 +NX_Q8IZJ3 1885 206702 6 0 Cell membrane;Secreted Anterior segment dysgenesis 8 PE1 19 +NX_Q8IZJ4 473 52346 8.17 0 Cytoplasmic vesicle;Centrosome NA PE2 22 +NX_Q8IZJ6 230 25407 9.58 0 Mitochondrion NA PE2 8 +NX_Q8IZK6 566 65942 7.73 6 Late endosome membrane;Cytoskeleton;Lysosome membrane;Recycling endosome membrane;Cell membrane NA PE1 1 +NX_Q8IZL2 1156 125197 9.45 0 Nucleoplasm;Nucleus speckle;Nucleus;Cytosol NA PE1 11 +NX_Q8IZL8 1130 119700 4.29 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA PE1 17 +NX_Q8IZL9 346 38695 6.27 0 Nucleoplasm;Cytoplasm;Nucleus;Cilium NA PE1 9 +NX_Q8IZM0 81 9081 11.39 0 NA NA PE5 4 +NX_Q8IZM8 581 65854 5.36 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 3 +NX_Q8IZM9 456 50929 8.02 11 Cytoskeleton;Cell junction;Cell membrane NA PE1 14 +NX_Q8IZN3 488 53388 8.59 4 Mitochondrion;Nucleolus;Membrane NA PE1 6 +NX_Q8IZN7 70 7846 9.45 0 Secreted NA PE2 8 +NX_Q8IZP0 508 55081 6.57 0 Cytoplasm;Cell membrane;Growth cone;Nucleus;Filopodium;Postsynaptic density;Lamellipodium;Cytoskeleton;Cell junction NA PE1 10 +NX_Q8IZP1 549 62187 9.24 0 Cell membrane NA PE1 17 +NX_Q8IZP2 240 27407 5.01 0 Cytoplasm NA PE5 13 +NX_Q8IZP6 322 36259 7.54 0 NA NA PE1 13 +NX_Q8IZP7 471 54844 6.39 1 Nucleoplasm;Cytoskeleton;Nucleus membrane;Membrane NA PE1 13 +NX_Q8IZP9 1017 111593 7.66 7 Cytosol;Apical cell membrane;Cell membrane Congenital bilateral aplasia of the vas deferens, X-linked PE1 X +NX_Q8IZQ1 3526 395258 6.3 0 PML body;Nucleolus;Perikaryon;Nucleus membrane;Cytosol;Cell membrane;Axon;Membrane Microcephaly 18, primary, autosomal dominant PE1 4 +NX_Q8IZQ5 122 13453 9.76 0 Nucleolus;Nucleus NA PE1 11 +NX_Q8IZQ8 938 101997 6.17 0 Nucleus NA PE1 17 +NX_Q8IZR5 234 25828 7.65 4 Cytoplasmic vesicle;Cell membrane;Golgi apparatus;Membrane NA PE1 16 +NX_Q8IZS5 231 26754 5.89 0 NA NA PE1 6 +NX_Q8IZS6 198 23176 9.34 0 Cytoplasmic granule;Cytoskeleton;Membrane NA PE1 6 +NX_Q8IZS7 167 19115 9.44 1 Cell membrane NA PE2 12 +NX_Q8IZS8 1091 123011 5.53 1 Cytosol;Nucleus;Membrane NA PE1 3 +NX_Q8IZT6 3477 409800 10.45 0 Cytosol;Cytoplasm;Spindle;Nucleus;Cell membrane Microcephaly 5, primary, autosomal recessive PE1 1 +NX_Q8IZT8 346 40408 9.8 1 Golgi apparatus membrane NA PE1 6 +NX_Q8IZT9 166 19210 5.16 0 Nucleus NA PE1 X +NX_Q8IZU0 186 22438 5.31 0 Nucleoplasm;Nucleus NA PE1 X +NX_Q8IZU1 332 37339 4.82 0 Nucleolus NA PE1 X +NX_Q8IZU2 1322 147703 6.01 0 Nucleus speckle NA PE1 4 +NX_Q8IZU3 236 27729 9.22 0 Nucleus;Centromere;Chromosome Spermatogenic failure 4;Pregnancy loss, recurrent, 4 PE1 12 +NX_Q8IZU8 1212 139238 8.48 2 Nucleoplasm;Cell membrane;Membrane NA PE1 18 +NX_Q8IZU9 778 85255 6.46 1 Cell membrane;Secreted NA PE1 11 +NX_Q8IZV2 173 19572 6.06 4 Nucleoplasm;Cytoplasm;Nucleus;Membrane NA PE1 3 +NX_Q8IZV5 341 38087 7.11 1 Endoplasmic reticulum membrane;Microsome membrane;Lipid droplet NA PE1 8 +NX_Q8IZW8 715 76764 7.01 0 Focal adhesion;Cytoskeleton NA PE1 17 +NX_Q8IZX4 1826 207302 5.26 0 Nucleus NA PE1 9 +NX_Q8IZY2 2146 234350 6.85 15 Early endosome membrane;Golgi apparatus membrane;Golgi apparatus;Cell membrane;Cell junction Alzheimer disease 9 PE1 19 +NX_Q8IZY5 108 12045 6.73 0 Mitochondrion;Cytoplasm NA PE1 11 +NX_Q8J025 514 58797 8.43 1 Cell membrane Hypotrichosis 1 PE1 18 +NX_Q8MH63 180 18779 6.72 3 Membrane NA PE5 16 +NX_Q8N0S2 351 39699 5.89 0 Cytosol;Nucleoplasm;Nucleus;Chromosome Premature ovarian failure 12;Spermatogenic failure, 15 PE1 10 +NX_Q8N0S6 344 38998 6.08 0 Nucleus;Centromere NA PE1 1 +NX_Q8N0T1 100 11456 10.46 0 Mitochondrion;Cytosol;Nucleolus;Nucleus NA PE1 8 +NX_Q8N0U2 210 22170 4.54 2 Membrane NA PE2 1 +NX_Q8N0U4 392 42301 8.22 0 Cytosol NA PE1 7 +NX_Q8N0U6 118 13361 4.89 0 NA NA PE5 6 +NX_Q8N0U7 546 62035 8.82 0 NA NA PE1 1 +NX_Q8N0U8 176 19836 9.28 4 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 7 +NX_Q8N0V1 137 14971 9.08 0 NA NA PE5 21 +NX_Q8N0V3 343 38359 8.01 0 Mitochondrion NA PE1 18 +NX_Q8N0V4 545 62298 6.47 0 Centrosome;Secreted NA PE1 4 +NX_Q8N0V5 402 45873 6.73 1 Golgi apparatus membrane;Golgi apparatus Cataract 13, with adult i phenotype PE1 6 +NX_Q8N0W3 1084 117623 5.84 0 Cytoplasmic vesicle NA PE1 16 +NX_Q8N0W4 816 91915 5.78 1 Postsynaptic density;Cell membrane Asperger syndrome, X-linked, 2;Autism, X-linked 2 PE1 X +NX_Q8N0W5 287 33292 8.49 0 Cytosol;Nucleus speckle;Nucleolus;Nucleus NA PE1 16 +NX_Q8N0W7 255 29241 9.19 2 Membrane NA PE1 X +NX_Q8N0X2 631 70818 5.9 0 Flagellum axoneme;Flagellum;Cytosol;Cytoplasm;Cell membrane;Cilium axoneme NA PE1 2 +NX_Q8N0X4 340 37359 8.88 0 Cytosol;Mitochondrion NA PE1 13 +NX_Q8N0X7 666 72833 5.66 0 Cytosol;Cytoplasm;Midbody;Cell membrane Spastic paraplegia 20, autosomal recessive PE1 13 +NX_Q8N0Y2 327 35204 8.9 0 Nucleolus;Nucleus NA PE1 19 +NX_Q8N0Y3 316 35724 9.03 7 Centrosome;Cell membrane NA PE2 15 +NX_Q8N0Y5 310 34661 8.56 7 Cell membrane NA PE2 11 +NX_Q8N0Y7 254 28777 6.19 0 NA NA PE1 X +NX_Q8N0Z2 381 43117 8.7 0 Sarcomere;Cytoskeleton NA PE1 8 +NX_Q8N0Z3 855 96264 7.03 0 Centriole;Spindle;Centrosome NA PE1 3 +NX_Q8N0Z6 440 48928 6.05 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 14 +NX_Q8N0Z8 303 33233 9.89 0 Cytoplasmic vesicle NA PE1 1 +NX_Q8N0Z9 540 59217 4.62 1 Cytosol;Membrane;Cell membrane;Microtubule organizing center NA PE1 12 +NX_Q8N100 152 16871 9.61 0 Nucleus Persistent hyperplastic primary vitreous, autosomal recessive PE1 10 +NX_Q8N103 731 80703 6.04 0 NA NA PE1 6 +NX_Q8N104 65 7369 8.96 0 Membrane;Secreted NA PE1 8 +NX_Q8N108 512 57983 4.34 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q8N109 375 40678 8.36 1 Cell membrane NA PE3 19 +NX_Q8N111 149 14954 9.24 1 Mitochondrion;Membrane NA PE1 11 +NX_Q8N112 164 17868 5.69 1 Membrane NA PE1 3 +NX_Q8N114 240 25582 6.26 1 Endoplasmic reticulum membrane;Nucleus membrane NA PE1 3 +NX_Q8N118 509 58875 8.74 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 1 +NX_Q8N119 569 65043 9.19 0 Secreted Heterotaxy, visceral, 7, autosomal PE2 10 +NX_Q8N122 1335 149038 6.43 0 Cytoplasm;Cytoplasmic granule;Nucleoplasm;Cytosol;Lysosome NA PE1 17 +NX_Q8N123 301 34727 8.9 0 NA NA PE2 X +NX_Q8N126 398 43300 5.71 1 Cell junction;Cell membrane NA PE1 1 +NX_Q8N127 324 36653 8.63 7 Cell membrane NA PE3 11 +NX_Q8N128 213 23757 4.4 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 14 +NX_Q8N129 248 28310 4.6 0 Cytoplasmic vesicle;Secreted NA PE1 7 +NX_Q8N130 599 63550 8.62 8 Membrane Hereditary hypophosphatemic rickets with hypercalciuria PE1 9 +NX_Q8N131 208 21531 8.76 1 Cytoplasmic vesicle;Cytosol;Golgi apparatus;Cell membrane;Membrane NA PE1 11 +NX_Q8N135 537 59141 7.28 0 Golgi apparatus;Secreted Arthrogryposis multiplex congenita, neurogenic, with myelin defect PE1 19 +NX_Q8N136 415 45777 6.12 0 Nucleoplasm;Nucleus;Cilium NA PE1 2 +NX_Q8N137 903 101253 5.41 0 Centriole;Cytosol;Centrosome NA PE1 17 +NX_Q8N138 153 17495 9.64 2 Endoplasmic reticulum membrane Asthma PE1 17 +NX_Q8N139 1617 184286 7.05 14 Nucleoplasm;Membrane NA PE1 17 +NX_Q8N140 333 38168 5.03 0 Cytoplasm;Nucleolus;Nucleus;Telomere NA PE1 12 +NX_Q8N141 532 62578 9.2 0 Cytosol;Nucleoplasm;Nucleus;Nucleus membrane NA PE1 19 +NX_Q8N142 457 50208 8.76 0 Cytoplasm Myopathy, distal, 5 PE1 14 +NX_Q8N143 479 51531 9.23 0 Cytoplasmic vesicle;Nucleus NA PE1 17 +NX_Q8N144 294 31933 8.94 4 Gap junction;Cell membrane NA PE1 17 +NX_Q8N145 548 61704 8.15 0 Cytosol;Synaptosome;Synaptic vesicle;Secreted NA PE1 8 +NX_Q8N146 312 35219 8.53 7 Cell membrane NA PE3 11 +NX_Q8N148 313 34902 8.32 7 Cell membrane NA PE2 7 +NX_Q8N149 483 52992 6.43 1 Cell membrane;Secreted NA PE1 19 +NX_Q8N157 1196 137115 6.67 0 Centriole;Cytoplasm;Cilium basal body;Centrosome;Adherens junction Joubert syndrome 3 PE1 6 +NX_Q8N158 579 62830 8.33 0 Extracellular space;Nucleolus;Golgi apparatus;Cell membrane;Nucleus;Endoplasmic reticulum NA PE1 7 +NX_Q8N159 534 58156 9.12 0 Mitochondrion;Mitochondrion matrix N-acetylglutamate synthase deficiency PE1 17 +NX_Q8N162 312 35422 9.03 7 Cell membrane NA PE3 11 +NX_Q8N163 923 102902 5.14 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 8 +NX_Q8N165 341 38546 6.42 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q8N183 169 19856 8.94 0 Mitochondrion Mitochondrial complex I deficiency;Leigh syndrome PE1 5 +NX_Q8N184 647 75164 9.3 0 Cytosol;Nucleoplasm;Nucleus NA PE1 19 +NX_Q8N187 725 80698 5.47 0 Cytosol;Cytoplasmic vesicle;Nucleolus;Nucleus NA PE1 2 +NX_Q8N196 739 74562 4.93 0 Cytoplasm;Nucleus Branchiootorenal syndrome 2 PE1 19 +NX_Q8N1A0 295 34158 5.63 0 Cytoplasmic vesicle;Lipid droplet NA PE1 17 +NX_Q8N1A6 199 23468 5.27 0 Nucleus;Golgi apparatus NA PE1 4 +NX_Q8N1B3 248 28369 5.84 0 Cytoplasm;Nucleus Toe syndactyly, telecanthus, and anogenital and renal malformations PE1 X +NX_Q8N1B4 723 82221 5.7 0 Endosome membrane;Recycling endosome;trans-Golgi network membrane NA PE1 6 +NX_Q8N1C3 465 53595 8.39 4 Postsynaptic cell membrane;Cell membrane NA PE2 4 +NX_Q8N1D0 253 27061 9.87 0 Nucleoplasm;Nucleus NA PE2 11 +NX_Q8N1D5 194 23067 9.73 0 Cytosol NA PE1 1 +NX_Q8N1E2 194 21431 8.47 0 Secreted NA PE2 2 +NX_Q8N1E6 418 45886 9.15 0 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus NA PE1 12 +NX_Q8N1F1 130 13824 9.49 0 Mitochondrion NA PE5 17 +NX_Q8N1F7 819 93488 5.5 0 Nuclear pore complex;Nucleus;Nucleus envelope;Nucleus membrane Nephrotic syndrome 12 PE1 16 +NX_Q8N1F8 1088 120259 5.24 0 Cytoplasmic vesicle;Cytoplasm NA PE1 2 +NX_Q8N1G0 1237 129529 8.56 0 Nucleoplasm;Cytoplasm;Nucleus Paget disease of bone 6 PE1 1 +NX_Q8N1G1 1221 131510 9.12 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8N1G2 835 95321 6.64 0 Nucleoplasm;Cytosol;Nucleus NA PE1 6 +NX_Q8N1G4 583 63473 8.55 0 Nucleolus NA PE1 1 +NX_Q8N1H7 587 68166 5.39 0 Nucleolus;Nucleus;Chromosome NA PE1 14 +NX_Q8N1I0 1966 225206 7.57 0 Cytosol;Nucleolus;Cell projection;Golgi apparatus;Cell membrane NA PE1 7 +NX_Q8N1I8 211 22698 6.31 0 NA NA PE2 19 +NX_Q8N1K5 641 73452 5.62 0 Cytoplasm;Nucleus NA PE1 6 +NX_Q8N1L1 170 18115 6.03 0 NA NA PE5 22 +NX_Q8N1L4 340 40159 9.25 1 Membrane NA PE5 1 +NX_Q8N1L9 274 29398 7.2 0 Nucleolus;Nucleus NA PE1 11 +NX_Q8N1M1 668 76107 6.13 4 Cytoplasm;Cell membrane NA PE2 12 +NX_Q8N1N0 589 65519 6.23 1 Membrane NA PE2 2 +NX_Q8N1N2 210 22529 5.27 1 Golgi apparatus membrane;Cell membrane NA PE1 18 +NX_Q8N1N4 520 56866 5.79 0 NA NA PE1 12 +NX_Q8N1N5 446 48076 8.42 0 Cytoplasm;Nucleus;Membrane NA PE1 4 +NX_Q8N1P7 616 68646 4.99 0 Nucleoplasm NA PE1 1 +NX_Q8N1Q1 262 29443 6.45 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA PE1 8 +NX_Q8N1Q8 247 27677 7.61 0 Mitochondrion matrix NA PE1 1 +NX_Q8N1S5 342 35396 5.44 7 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane;Golgi apparatus NA PE1 17 +NX_Q8N1T3 1032 119037 9.19 0 NA NA PE1 12 +NX_Q8N1V2 620 68298 6.51 0 Cytoplasm;Flagellum NA PE1 17 +NX_Q8N1V8 128 13299 7.66 0 NA NA PE5 10 +NX_Q8N1W1 1705 191891 5.69 0 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA PE1 5 +NX_Q8N1W2 664 74461 6.33 0 Mitochondrion;Nucleoplasm;Nucleus NA PE1 15 +NX_Q8N1X5 172 16487 12.11 0 NA NA PE2 6 +NX_Q8N1Y9 231 24915 6.89 1 Membrane NA PE5 9 +NX_Q8N201 2190 244297 5.77 1 Nucleoplasm;Nucleus membrane NA PE1 7 +NX_Q8N205 404 43512 5.48 1 Nucleus outer membrane Deafness, autosomal recessive, 76 PE1 19 +NX_Q8N228 414 45023 9.78 0 Nucleoplasm;Nucleus NA PE1 6 +NX_Q8N239 644 70612 5.41 0 NA NA PE2 X +NX_Q8N257 126 13908 10.31 0 Nucleus;Chromosome NA PE1 1 +NX_Q8N264 748 84258 6.24 0 Cytosol;Cell membrane;Focal adhesion;Adherens junction;Cytoskeleton;Cell projection NA PE1 4 +NX_Q8N268 126 14459 9.37 0 NA NA PE2 20 +NX_Q8N271 834 91883 5.8 5 Apical cell membrane;Basolateral cell membrane;Nucleoplasm;Cell membrane;Cilium membrane;Microvillus membrane;Cell junction NA PE1 2 +NX_Q8N283 1001 109966 5.76 0 NA NA PE1 1 +NX_Q8N292 157 17883 8.67 1 Cell membrane NA PE1 5 +NX_Q8N2A0 174 18329 6.74 0 NA NA PE5 X +NX_Q8N2A8 252 28273 9.53 1 Mitochondrion outer membrane NA PE1 17 +NX_Q8N2B8 174 19079 11.57 0 NA NA PE2 2 +NX_Q8N2C3 294 33694 6.71 0 Cytoskeleton NA PE2 12 +NX_Q8N2C7 3258 363390 6.4 4 Cytoplasmic vesicle;Membrane Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 PE1 2 +NX_Q8N2C9 162 18019 7.18 0 NA NA PE2 21 +NX_Q8N2E2 1590 176780 5.42 0 Cytosol;Nucleoplasm;Secreted NA PE1 7 +NX_Q8N2E6 242 26262 10.17 0 Secreted NA PE1 9 +NX_Q8N2F6 343 37540 6.16 1 Mitochondrion;Endoplasmic reticulum membrane NA PE1 7 +NX_Q8N2G4 141 15240 8.4 0 Cell membrane;Endoplasmic reticulum NA PE1 2 +NX_Q8N2G6 241 26955 8.97 0 Mitochondrion;Nucleoplasm NA PE1 10 +NX_Q8N2G8 530 57523 8.05 0 Nucleus envelope;Endoplasmic reticulum NA PE1 17 +NX_Q8N2H3 581 63068 6.47 0 Mitochondrion NA PE1 10 +NX_Q8N2H4 156 17615 7.62 4 Golgi apparatus membrane NA PE1 20 +NX_Q8N2H9 469 50755 7.24 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA PE1 11 +NX_Q8N2I2 560 63322 8.72 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 3 +NX_Q8N2I9 435 49001 8.04 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 1 +NX_Q8N2K0 398 45097 8.87 1 Membrane Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract PE1 20 +NX_Q8N2K1 259 28898 8.6 1 Endoplasmic reticulum membrane NA PE1 1 +NX_Q8N2M4 240 26398 8.92 7 Nucleoplasm;Golgi apparatus;Membrane NA PE2 11 +NX_Q8N2M8 674 77161 10.44 0 Nucleus NA PE1 19 +NX_Q8N2N9 1353 153582 9.01 0 NA NA PE1 2 +NX_Q8N2Q7 840 93835 5.79 1 Postsynaptic density;Synapse;Nucleus;Cell membrane NA PE1 3 +NX_Q8N2R0 312 35513 9.66 0 Nucleus;Cell membrane NA PE1 8 +NX_Q8N2R8 423 45776 6.1 0 Cytoplasmic vesicle NA PE1 3 +NX_Q8N2S1 1624 173435 5.27 0 Extracellular matrix Duchenne muscular dystrophy;Urban-Rifkin-Davis syndrome PE1 19 +NX_Q8N2U0 113 11742 9.1 2 Cytoplasmic vesicle;Membrane NA PE1 17 +NX_Q8N2U9 271 30478 8.34 6 Nucleoplasm;Membrane NA PE1 18 +NX_Q8N2W9 510 56504 5.84 0 Nucleoplasm;PML body NA PE1 19 +NX_Q8N2X6 119 12661 11.04 0 Secreted NA PE1 5 +NX_Q8N2Y8 1516 161225 6.17 0 Cytosol Mental retardation, autosomal recessive 61 PE1 9 +NX_Q8N2Z9 138 15893 5.83 0 Kinetochore;Centromere;Nucleus NA PE1 1 +NX_Q8N300 66 7808 9.21 0 Cytosol;Nucleoplasm;Secreted;Nucleus;Cytoplasm NA PE1 1 +NX_Q8N302 714 80977 5.29 0 Cytoplasm;Secreted Klippel-Trenaunay syndrome PE1 5 +NX_Q8N307 709 71982 4.95 0 Apical cell membrane;Basolateral cell membrane;Secreted;Nucleoplasm;Cell membrane;Cytosol;Microvillus membrane NA PE1 3 +NX_Q8N309 656 73022 5.17 0 Cytoplasmic vesicle;Golgi apparatus NA PE1 12 +NX_Q8N319 242 26113 12.2 0 Nucleolus NA PE2 6 +NX_Q8N323 547 63178 8.78 0 Secreted NA PE1 11 +NX_Q8N326 155 17766 10.01 1 Membrane NA PE2 10 +NX_Q8N328 593 67595 7.81 0 Nucleus NA PE1 10 +NX_Q8N335 351 38419 6.61 0 Cytoplasm Brugada syndrome 2 PE1 3 +NX_Q8N336 334 39052 8.78 0 Cytosol;Nucleoplasm NA PE1 11 +NX_Q8N339 61 6110 8.05 0 NA NA PE1 16 +NX_Q8N344 545 59944 4.53 0 Nucleoplasm;Cytosol;Nucleus NA PE1 19 +NX_Q8N349 312 35634 9.09 7 Cell membrane NA PE2 1 +NX_Q8N350 705 73929 5.96 1 Nucleoplasm;Synaptic vesicle membrane;Growth cone;Cell membrane NA PE1 19 +NX_Q8N357 371 40214 6.44 9 Endosome;Lysosome membrane;Cytosol;Cytoplasmic vesicle;Nucleoplasm;Mitochondrion NA PE1 2 +NX_Q8N365 385 41443 9.49 0 Nucleoplasm;PML body;Nucleus NA PE1 1 +NX_Q8N370 569 62747 8.25 12 Golgi apparatus;Cell membrane;Membrane NA PE1 17 +NX_Q8N371 416 47270 5.51 0 Nucleoplasm;Cytosol;Nucleus;Chromosome NA PE1 16 +NX_Q8N377 158 15598 7.64 0 NA NA PE5 10 +NX_Q8N386 305 33179 4.88 1 Cytoplasm;Membrane NA PE1 19 +NX_Q8N387 334 36294 4.93 1 Cell membrane;Secreted NA PE1 11 +NX_Q8N392 663 74977 6.1 0 Cytosol;Cytoplasm;Cell membrane;Nucleus speckle NA PE1 6 +NX_Q8N393 782 89815 9.39 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 7 +NX_Q8N394 836 94130 8.94 10 Cytoskeleton;Cell membrane;Endoplasmic reticulum;Membrane NA PE1 12 +NX_Q8N398 1242 131668 6.02 0 Nucleus;Golgi apparatus NA PE1 3 +NX_Q8N3A8 854 95871 8.58 0 Cytosol;Cytoplasm;Midbody ring;Nucleoplasm;Nucleus;Cell junction NA PE1 5 +NX_Q8N3C0 2202 251460 6.64 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleus speckle NA PE1 6 +NX_Q8N3C7 705 76317 8.93 0 Cytoplasmic vesicle NA PE1 2 +NX_Q8N3D4 1523 161854 4.8 0 Cytosol;Endosome;Nucleolus;Cell membrane NA PE1 11 +NX_Q8N3E9 789 89258 6.52 0 Cytoplasm;Cell membrane;Cleavage furrow;Membrane NA PE1 17 +NX_Q8N3F0 131 14925 4.03 0 Cytosol NA PE1 7 +NX_Q8N3F8 863 93441 6.88 0 Cytosol;Late endosome membrane;Recycling endosome membrane;Cell junction;Microtubule organizing center NA PE1 22 +NX_Q8N3F9 429 47075 7.16 7 Cytoplasmic vesicle;Membrane NA PE2 14 +NX_Q8N3G9 435 48329 6.07 1 Golgi apparatus membrane;Endoplasmic reticulum;Golgi apparatus NA PE1 7 +NX_Q8N3H0 131 14620 9.46 0 Cytoplasm NA PE1 12 +NX_Q8N3I7 341 38755 5.39 0 Cytoplasm;Centriolar satellite;Cilium basal body;Nucleus;Cilium membrane Bardet-Biedl syndrome 5 PE1 2 +NX_Q8N3J2 472 54041 6.39 0 Mitochondrion NA PE1 18 +NX_Q8N3J3 647 69771 5.85 0 Cytosol;Nucleoplasm NA PE1 17 +NX_Q8N3J5 372 40997 6.27 0 Mitochondrion;Mitochondrion matrix Maple syrup urine disease, mild variant PE1 4 +NX_Q8N3J6 435 47554 5.17 1 Axon;Synapse;Cell membrane NA PE1 3 +NX_Q8N3J9 261 30284 9.03 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q8N3K9 4069 449211 4.73 0 Cytoplasm;Perinuclear region;Sarcoplasmic reticulum;Nucleus;M line NA PE1 5 +NX_Q8N3L3 684 76519 4.9 0 NA NA PE1 6 +NX_Q8N3P4 1428 161754 5.41 0 Cytosol;Cell membrane;Early endosome NA PE1 3 +NX_Q8N3R3 496 57925 8.9 0 Mitochondrion NA PE1 3 +NX_Q8N3R9 675 77294 5.77 0 Nucleoplasm;Cytoplasm;Cell membrane;Endomembrane system;Cytosol;Tight junction NA PE1 14 +NX_Q8N3S3 785 88757 9.09 0 Nucleoplasm;Cytosol;Nucleus;Endoplasmic reticulum NA PE1 7 +NX_Q8N3T1 639 73063 6.44 1 Cytosol;Golgi apparatus membrane;Golgi apparatus NA PE1 3 +NX_Q8N3T6 1108 121787 5.95 1 Cytosol;Centrosome;Membrane NA PE1 12 +NX_Q8N3U1 123 12695 5.54 0 NA NA PE2 19 +NX_Q8N3U4 1231 141326 5.27 0 Centromere;Nucleus;Chromosome NA PE1 X +NX_Q8N3V7 929 99463 8.92 0 Synapse;Perikaryon;Nucleoplasm;Cytosol;Dendritic spine;Postsynaptic density;Cytoskeleton;Tight junction NA PE1 5 +NX_Q8N3X1 1017 110266 4.68 0 Nucleus speckle NA PE1 11 +NX_Q8N3X6 602 66964 8.2 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE1 4 +NX_Q8N3Y1 598 67394 5.42 0 Cytosol;Perinuclear region;Golgi apparatus NA PE1 12 +NX_Q8N3Y3 721 81787 7.69 1 Golgi apparatus membrane NA PE1 11 +NX_Q8N3Y7 309 34095 8.72 2 Endoplasmic reticulum membrane NA PE1 8 +NX_Q8N3Z0 413 47098 9.72 0 Secreted NA PE1 6 +NX_Q8N3Z3 284 32147 9.47 0 Mitochondrion NA PE1 3 +NX_Q8N3Z6 543 63052 7.03 0 Cytosol;Nucleolus NA PE1 9 +NX_Q8N402 240 26933 4.58 0 NA NA PE2 22 +NX_Q8N412 459 50660 9.6 0 NA NA PE2 4 +NX_Q8N413 288 31906 9.32 6 Cytosol;Nucleoplasm;Mitochondrion inner membrane NA PE1 11 +NX_Q8N414 524 58464 9.03 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q8N423 598 65039 6.79 1 Cell membrane NA PE1 19 +NX_Q8N427 588 67270 4.9 0 Cytoplasm Ciliary dyskinesia, primary, 6 PE1 7 +NX_Q8N428 558 63074 9.28 1 Golgi apparatus membrane;Nucleus NA PE1 14 +NX_Q8N431 466 52870 7.58 0 Mitochondrion NA PE2 5 +NX_Q8N434 492 53991 9.07 10 Membrane NA PE2 7 +NX_Q8N436 756 85870 6.4 0 Secreted NA PE1 10 +NX_Q8N441 504 54537 9.79 1 Cytoplasmic vesicle;Membrane NA PE1 4 +NX_Q8N442 669 74328 8.75 0 Mitochondrion;Nucleus;Mitochondrion inner membrane Epileptic encephalopathy, early infantile, 40 PE1 4 +NX_Q8N443 379 44015 8.92 0 Nucleus NA PE1 X +NX_Q8N446 348 37065 9.85 0 NA NA PE1 16 +NX_Q8N448 690 76004 6.17 0 Cytosol;Cytoplasmic vesicle;Cell membrane NA PE1 13 +NX_Q8N456 261 29737 9.83 0 Cytoplasm NA PE1 10 +NX_Q8N461 479 51658 6.09 0 NA NA PE1 16 +NX_Q8N465 521 56416 8.21 0 Mitochondrion D-2-hydroxyglutaric aciduria 1 PE1 2 +NX_Q8N468 514 56265 8.67 12 Endosome;Membrane NA PE1 1 +NX_Q8N474 314 35386 9.1 0 Cytosol;Nucleolus;Secreted NA PE1 8 +NX_Q8N475 847 95751 5.61 0 Secreted NA PE1 4 +NX_Q8N485 282 31891 5.37 0 Cytosol;Cytoplasmic vesicle;Cytoskeleton NA PE2 5 +NX_Q8N488 228 24822 9.66 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 3 +NX_Q8N490 385 42876 9.22 0 Mitochondrion;Cytoplasm;Nucleus;Membrane Dystonia 8 PE1 2 +NX_Q8N4A0 578 66666 7.55 1 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus NA PE1 12 +NX_Q8N4B1 249 27215 9.18 0 Recycling endosome;Clathrin-coated vesicle;trans-Golgi network;Early endosome NA PE1 12 +NX_Q8N4B4 442 52646 9.1 0 NA NA PE2 17 +NX_Q8N4B5 295 30926 11.09 0 NA NA PE1 6 +NX_Q8N4C0 152 16682 10.45 0 NA NA PE2 9 +NX_Q8N4C6 2090 243249 4.99 0 Centriole;Cytoplasm;Nucleolus;Nucleus;Centrosome Seckel syndrome 7 PE1 14 +NX_Q8N4C7 294 34324 7.05 0 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA PE1 3 +NX_Q8N4C8 1332 149822 7.85 0 Axon;Dendrite;Cytoplasm;Golgi apparatus;Postsynaptic density NA PE1 17 +NX_Q8N4C9 275 30555 9.62 1 Membrane NA PE2 17 +NX_Q8N4E4 241 28071 4.79 0 NA NA PE1 4 +NX_Q8N4E7 242 27538 6.79 0 Mitochondrion NA PE1 5 +NX_Q8N4F0 458 49172 8.82 0 Cytoplasmic vesicle;Secreted NA PE1 20 +NX_Q8N4F4 322 35933 5.39 6 Membrane NA PE2 11 +NX_Q8N4F7 328 38266 9.07 5 Membrane NA PE1 4 +NX_Q8N4G2 192 21588 8.93 0 Cytoplasmic vesicle NA PE1 3 +NX_Q8N4H0 392 45058 9.22 0 NA NA PE1 9 +NX_Q8N4H5 51 6035 9.69 1 Mitochondrion;Mitochondrion outer membrane NA PE1 9 +NX_Q8N4J0 409 47186 5.93 0 Cytosol;Nucleus NA PE1 9 +NX_Q8N4K4 120 12312 5.51 1 Membrane NA PE2 17 +NX_Q8N4L1 468 51278 8.31 2 Cytosol;Nucleolus;Membrane NA PE1 11 +NX_Q8N4L2 257 28081 9.07 2 Late endosome membrane;Lysosome membrane NA PE1 8 +NX_Q8N4L4 309 34773 8.07 1 Cytoplasm;Membrane NA PE1 17 +NX_Q8N4L8 307 34322 6.57 0 Cytosol;Cell membrane NA PE1 1 +NX_Q8N4M1 653 73783 7.92 8 Membrane NA PE1 1 +NX_Q8N4M7 172 19474 5.3 0 NA NA PE2 10 +NX_Q8N4N3 616 69896 5.85 0 Cytosol NA PE1 16 +NX_Q8N4N8 673 76254 8.89 0 Kinetochore;Cytoskeleton;Nucleolus;Spindle;Centrosome NA PE1 17 +NX_Q8N4P2 665 76099 5.12 0 Cilium NA PE1 2 +NX_Q8N4P3 179 20329 6.25 0 Cytosol;Nucleoplasm NA PE1 15 +NX_Q8N4P6 559 61825 9.3 0 NA NA PE1 1 +NX_Q8N4Q0 377 40140 8.38 0 Cytoplasmic vesicle;Nucleus;Golgi apparatus;Peroxisome NA PE1 18 +NX_Q8N4Q1 142 15996 4.23 0 Mitochondrion;Mitochondrion intermembrane space NA PE1 3 +NX_Q8N4S0 544 64002 4.91 0 Cytosol;Nucleus NA PE1 11 +NX_Q8N4S7 273 29126 9.26 6 Cytoplasmic vesicle;Membrane NA PE1 16 +NX_Q8N4S9 558 64168 7.21 6 Cell membrane;Cell junction;Tight junction Deafness, autosomal recessive, 49 PE1 5 +NX_Q8N4T0 437 51008 9.58 0 Extracellular matrix Epilepsy, familial temporal lobe, 5;Febrile seizures, familial, 11 PE1 8 +NX_Q8N4T4 335 38295 9.71 0 Cell membrane NA PE1 9 +NX_Q8N4T8 237 25301 9.4 0 Mitochondrion matrix NA PE1 4 +NX_Q8N4U5 519 58091 4.89 0 Nucleus speckle NA PE1 12 +NX_Q8N4V1 131 14686 9.2 2 Endoplasmic reticulum membrane;Early endosome membrane;Golgi apparatus membrane NA PE1 X +NX_Q8N4V2 548 60769 5.6 12 Synaptic vesicle membrane NA PE1 12 +NX_Q8N4W6 341 38086 9.39 7 Cytoplasmic vesicle;Membrane NA PE1 12 +NX_Q8N4W9 903 104825 9.59 0 Nucleus NA PE1 19 +NX_Q8N4X5 818 91300 5.22 0 Cytosol;Cytoplasm;Cell membrane NA PE1 10 +NX_Q8N4Y2 399 44956 5.28 0 Nucleus NA PE1 11 +NX_Q8N4Z0 218 24133 6.59 0 Endoplasmic reticulum;Membrane NA PE1 1 +NX_Q8N511 208 23130 9.09 2 COPI-coated vesicle membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane Congenital disorder of glycosylation 2P PE1 17 +NX_Q8N531 539 58588 9.51 0 Nucleus NA PE1 8 +NX_Q8N535 108 12106 5.44 0 NA NA PE5 2 +NX_Q8N539 461 50744 6.02 1 Cell junction;Membrane NA PE1 9 +NX_Q8N543 542 63246 5.03 0 Cytosol;Cytoplasm;Nucleus NA PE1 16 +NX_Q8N554 614 67219 8.87 0 Kinetochore;Cytosol;Nucleolus;Nucleus;Cell membrane NA PE1 16 +NX_Q8N556 730 80725 8.87 0 Cytosol;Focal adhesion;Cytoskeleton;Stress fiber NA PE1 4 +NX_Q8N565 214 24927 5.53 0 Cytoplasmic vesicle;Apical cell membrane NA PE1 2 +NX_Q8N567 271 30477 9.33 0 Cytoskeleton;Nucleolus;Nucleus NA PE1 5 +NX_Q8N568 766 83606 8.63 0 Cytoskeleton NA PE1 4 +NX_Q8N573 874 97970 5.32 0 Cytoplasmic vesicle;Mitochondrion NA PE1 8 +NX_Q8N584 583 65870 6.59 0 Nucleoplasm NA PE1 18 +NX_Q8N587 486 55197 9.09 0 Nucleus NA PE1 19 +NX_Q8N594 471 50662 5.49 0 Nucleolus;Nucleus NA PE1 19 +NX_Q8N5A5 531 57359 5.3 0 Nucleus;Cell membrane NA PE1 20 +NX_Q8N5B7 392 45752 8.21 6 Endoplasmic reticulum membrane;Nucleolus;Nucleus;Nucleus membrane NA PE1 12 +NX_Q8N5C1 309 35170 8.49 4 Golgi apparatus;Membrane NA PE1 6 +NX_Q8N5C6 995 111776 8.94 0 Mitochondrion;Cytosol NA PE1 2 +NX_Q8N5C7 304 35248 8.65 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA PE1 15 +NX_Q8N5C8 712 78653 8.81 0 Cytosol;Nucleus speckle NA PE1 X +NX_Q8N5D0 677 75920 6.85 0 Cytoplasmic vesicle;Golgi apparatus NA PE1 1 +NX_Q8N5D6 347 40127 8.68 1 Golgi apparatus membrane NA PE1 9 +NX_Q8N5F7 415 47138 10.12 0 Nucleoplasm;Cytosol;Nucleus NA PE1 X +NX_Q8N5G0 67 7702 9.86 1 Cytosol;Nucleus;Nucleolus;Mitochondrion inner membrane NA PE1 4 +NX_Q8N5G2 664 76178 9.17 4 Cytosol;Axon;Rough endoplasmic reticulum membrane;Nucleus membrane NA PE1 1 +NX_Q8N5H3 189 20147 5.1 0 Cytoplasm;Lamellipodium NA PE1 11 +NX_Q8N5H7 860 94411 8.2 0 Cytoplasm;Membrane NA PE1 9 +NX_Q8N5I2 433 45981 6.53 0 Nucleolus;Nucleus;Cell membrane NA PE1 9 +NX_Q8N5I3 272 31048 6.91 0 Cytoplasmic vesicle;Endoplasmic reticulum NA PE1 13 +NX_Q8N5I4 330 36443 9.1 0 Cytosol;Cytoskeleton;Secreted NA PE1 X +NX_Q8N5I9 185 20123 5.1 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE1 12 +NX_Q8N5J2 469 51778 4.75 0 Nucleoplasm NA PE1 1 +NX_Q8N5J4 248 29180 9.02 0 Nucleus NA PE2 12 +NX_Q8N5K1 135 15278 9.66 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Mitochondrion outer membrane Wolfram syndrome 2 PE1 4 +NX_Q8N5L8 163 17631 10.32 0 Nucleus NA PE1 9 +NX_Q8N5M1 289 32772 6.62 0 Cytosol;Mitochondrion Mitochondrial complex V deficiency, nuclear type 1 PE1 17 +NX_Q8N5M4 171 20013 9.02 0 Nucleoplasm;Cytoplasm NA PE1 11 +NX_Q8N5M9 183 21125 9.72 4 Endoplasmic reticulum membrane;Cytoplasm;Cytoplasmic vesicle;Nucleus;Endoplasmic reticulum Neutropenia, severe congenital 6, autosomal recessive PE1 3 +NX_Q8N5N4 141 15686 9.89 0 NA NA PE2 3 +NX_Q8N5N7 158 18325 7.73 0 Cytosol;Cytoplasmic vesicle;Mitochondrion NA PE1 9 +NX_Q8N5P1 291 33576 8.55 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q8N5Q1 922 99915 9.45 0 NA NA PE1 19 +NX_Q8N5R6 958 107216 6.32 0 NA NA PE1 15 +NX_Q8N5S1 370 40795 9.35 6 Mitochondrion inner membrane NA PE1 19 +NX_Q8N5S3 287 32142 9.07 0 NA NA PE1 2 +NX_Q8N5S9 505 55735 5.55 0 Cytosol;Cytoplasm;Nucleus NA PE1 17 +NX_Q8N5T2 526 60208 5.67 0 Nucleoplasm;Nucleus membrane NA PE1 4 +NX_Q8N5U0 333 36368 8.57 0 NA NA PE1 11 +NX_Q8N5U1 240 25050 5.63 4 Membrane NA PE2 11 +NX_Q8N5U6 811 89927 6.48 0 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA PE1 12 +NX_Q8N5V2 710 82496 5.42 0 Cytosol;Cytoplasm;Growth cone;Cell membrane;Membrane NA PE1 2 +NX_Q8N5W8 94 10147 6.68 0 Secreted NA PE1 10 +NX_Q8N5W9 214 22882 5.27 0 Cytosol;Cytoskeleton;Cell membrane NA PE1 17 +NX_Q8N5X7 224 24441 5.98 0 Nucleolus NA PE1 3 +NX_Q8N5Y2 521 59824 8.4 0 Nucleus NA PE1 X +NX_Q8N5Y8 322 36383 9.17 1 Endoplasmic reticulum membrane NA PE1 15 +NX_Q8N5Z0 425 47352 6.47 0 Mitochondrion;Cytoplasmic vesicle;Cell membrane NA PE1 4 +NX_Q8N5Z5 321 35670 4.82 0 Cytoplasm Dystonia 26, myoclonic PE1 22 +NX_Q8N608 796 90888 6.11 1 Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane Asthma PE1 2 +NX_Q8N609 369 42162 9.38 8 Mitochondrion;Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 4 +NX_Q8N612 972 105568 6.33 0 Mitochondrion;Cytoplasm;Nucleus NA PE1 11 +NX_Q8N614 296 34323 7.98 2 Membrane NA PE2 4 +NX_Q8N616 119 12924 6.53 0 NA NA PE5 16 +NX_Q8N628 320 35376 7.13 7 Cell membrane NA PE2 1 +NX_Q8N635 442 49313 5.98 0 Cytoplasm;Nucleolus;Nucleus;Chromosome Spermatogenic failure 22 PE1 16 +NX_Q8N653 840 94719 6.12 0 NA Schwannomatosis 2;Noonan syndrome 10 PE1 22 +NX_Q8N660 670 77563 4.63 0 Cytoplasm NA PE2 1 +NX_Q8N661 226 24352 6.15 7 Cytoplasm;Midbody;Centrosome;Membrane NA PE1 19 +NX_Q8N668 190 21178 5.85 0 Endosome membrane;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Cytosol;Nucleus;Early endosome;Recycling endosome NA PE1 2 +NX_Q8N680 514 57337 5.71 0 Cytosol;Nucleoplasm;Nucleus NA PE1 6 +NX_Q8N682 238 26253 6.39 6 Lysosome membrane NA PE1 12 +NX_Q8N684 471 52050 7.82 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 11 +NX_Q8N687 156 17537 5.31 0 Secreted NA PE2 20 +NX_Q8N688 67 8105 9.77 0 Secreted NA PE2 20 +NX_Q8N690 84 9822 8.92 0 Secreted NA PE1 20 +NX_Q8N693 406 44297 5.19 0 Cytoplasm;Nucleus;Nucleus speckle NA PE1 X +NX_Q8N695 610 66578 7.9 13 Apical cell membrane NA PE1 12 +NX_Q8N697 577 62034 9.2 12 Nucleoplasm;Membrane NA PE1 12 +NX_Q8N699 235 26593 9.88 0 Nucleoplasm;Nucleus NA PE1 6 +NX_Q8N6C5 1336 148936 5.63 2 Cytosol;Membrane;Secreted Hypothyroidism, central, and testicular enlargement PE1 X +NX_Q8N6C7 128 14321 10.38 0 NA NA PE5 19 +NX_Q8N6C8 439 47472 8.37 0 Secreted NA PE1 19 +NX_Q8N6D2 247 27402 5.82 2 Cytoplasmic vesicle;Cytoplasm;Nucleus;Golgi apparatus;Membrane NA PE1 6 +NX_Q8N6D5 301 32442 9.46 0 Nucleoplasm;Nucleus NA PE1 18 +NX_Q8N6F1 224 23229 8.49 4 Cell membrane;Tight junction Hypomagnesemia 5, renal, with or without ocular involvement PE1 1 +NX_Q8N6F7 178 21005 6.07 0 Cytoplasm;Cell membrane NA PE1 3 +NX_Q8N6F8 245 26522 5.74 0 Focal adhesion NA PE1 7 +NX_Q8N6G1 96 10504 9.35 0 NA NA PE5 1 +NX_Q8N6G2 289 33595 9.4 0 NA NA PE1 13 +NX_Q8N6G5 542 62572 5.5 1 Golgi stack membrane;Endoplasmic reticulum NA PE1 10 +NX_Q8N6G6 1762 193409 8.18 0 Extracellular matrix NA PE1 9 +NX_Q8N6H7 521 56720 8.08 0 Cytoplasm;Golgi apparatus membrane;Golgi apparatus NA PE1 11 +NX_Q8N6I1 236 25190 6.94 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8N6I4 163 18747 8.38 2 Cell junction;Golgi apparatus;Membrane NA PE1 14 +NX_Q8N6K0 151 16649 4.99 1 Membrane NA PE1 13 +NX_Q8N6K4 173 17423 9.65 0 NA NA PE2 16 +NX_Q8N6K7 520 61237 6.67 0 NA NA PE1 6 +NX_Q8N6L0 562 62783 4.65 1 Telomere;Nucleus;Nucleus outer membrane NA PE1 19 +NX_Q8N6L1 136 14679 9.67 3 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 1 +NX_Q8N6L7 170 18703 4.88 2 Membrane NA PE2 9 +NX_Q8N6M0 293 33813 5.77 0 Cytosol;Nucleoplasm;Golgi apparatus Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies PE1 8 +NX_Q8N6M3 262 29855 8.93 6 Endoplasmic reticulum membrane NA PE1 20 +NX_Q8N6M5 391 43559 5.79 0 NA NA PE2 2 +NX_Q8N6M6 819 93572 5.81 0 Cytoplasm;Cell junction NA PE1 9 +NX_Q8N6M8 205 23699 9.68 0 Acrosome NA PE1 3 +NX_Q8N6M9 145 16477 8.7 0 Cytoplasm;Nucleus NA PE2 7 +NX_Q8N6N2 239 25932 9.55 0 NA NA PE1 19 +NX_Q8N6N3 182 20599 5.14 0 Nucleus NA PE1 1 +NX_Q8N6N6 113 13032 8.84 0 NA NA PE1 17 +NX_Q8N6N7 88 9790 6.26 0 Cytoplasmic vesicle;Cytosol NA PE1 10 +NX_Q8N6P7 574 63077 5.81 1 Membrane NA PE1 1 +NX_Q8N6Q1 288 34174 5.83 1 Membrane NA PE1 15 +NX_Q8N6Q3 437 46363 5.87 0 Lamellipodium;Secreted;Membrane raft;Cell membrane;Cytoplasmic granule membrane NA PE1 19 +NX_Q8N6Q8 603 68213 6.69 0 Mitochondrion;Cytosol;Cell membrane NA PE1 12 +NX_Q8N6R0 699 78768 6.29 0 Cytosol NA PE1 1 +NX_Q8N6R1 65 7431 10.61 1 Endoplasmic reticulum membrane;Membrane NA PE1 13 +NX_Q8N6S4 541 60818 6.46 0 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 1 +NX_Q8N6S5 226 24676 5.94 3 Cytosol;Nucleus membrane;Membrane NA PE1 2 +NX_Q8N6T0 577 64047 6.2 0 Centrosome;Chromosome NA PE2 11 +NX_Q8N6T3 406 44668 5.46 0 Cytoplasmic vesicle;Cytoplasm;Nucleus membrane;Golgi apparatus NA PE1 20 +NX_Q8N6T7 355 39119 9.31 0 Nucleoplasm NA PE1 19 +NX_Q8N6U2 182 18370 11.05 0 NA NA PE5 12 +NX_Q8N6U8 529 58559 8.56 7 Cilium membrane;Nucleolus;Nucleus;Cell membrane NA PE1 1 +NX_Q8N6V4 93 10399 5.02 0 NA NA PE1 10 +NX_Q8N6V9 391 44826 6.21 0 Cytosol;Cell membrane NA PE1 15 +NX_Q8N6W0 485 52355 8.57 0 Cytoplasm;Nucleus NA PE1 19 +NX_Q8N6Y0 703 76068 5.58 0 NA NA PE1 19 +NX_Q8N6Y1 951 104919 4.91 1 Cytoplasmic vesicle;Cytoskeleton;Cell membrane NA PE1 13 +NX_Q8N6Y2 441 51800 8.5 0 Nucleoplasm;Extracellular space;Cell membrane;Nucleus speckle NA PE1 7 +NX_Q8N715 623 72349 10.13 0 NA NA PE1 1 +NX_Q8N720 491 57407 6.7 0 Nucleoplasm;Nucleus;Cell membrane NA PE1 7 +NX_Q8N726 132 13903 12.41 0 Mitochondrion;Nucleoplasm;Nucleolus NA PE1 9 +NX_Q8N729 165 18048 11.62 0 Secreted NA PE1 16 +NX_Q8N743 410 44928 7.27 1 Cell membrane NA PE2 19 +NX_Q8N752 337 39086 9.48 0 Cytoplasm NA PE1 13 +NX_Q8N755 202 22575 9.14 4 Cytosol;Membrane NA PE1 2 +NX_Q8N766 993 111759 7.38 1 Cytoskeleton;Membrane Cerebellar atrophy, visual impairment, and psychomotor retardation PE1 1 +NX_Q8N769 122 13377 5.55 0 NA NA PE2 14 +NX_Q8N782 197 23070 8.98 0 Nucleus NA PE1 19 +NX_Q8N7A1 406 46720 5.67 0 Cytosol;Cytoplasm NA PE2 14 +NX_Q8N7B1 307 35284 6.86 0 Nucleus;Chromosome NA PE1 22 +NX_Q8N7B6 248 27152 9.71 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 4 +NX_Q8N7B9 438 50147 9.31 0 NA NA PE1 17 +NX_Q8N7C0 313 35126 5.44 1 Cell membrane NA PE1 1 +NX_Q8N7C3 387 43983 5.52 0 Cytosol;Cell membrane NA PE1 4 +NX_Q8N7C4 229 26582 9.33 4 Nucleolus;Membrane NA PE2 6 +NX_Q8N7C7 305 34397 8.49 1 Membrane NA PE1 7 +NX_Q8N7E2 425 48785 9.57 0 Cytoplasm NA PE1 X +NX_Q8N7F7 174 19909 5.63 0 Mitochondrion;Cytoplasm;Cytoskeleton NA PE1 1 +NX_Q8N7G0 328 36051 10.11 0 Nucleus NA PE1 5 +NX_Q8N7H1 131 13435 11.32 0 NA NA PE2 12 +NX_Q8N7H5 531 59976 4.53 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8N7I0 195 21479 8.73 0 Mitochondrion NA PE2 9 +NX_Q8N7J2 671 69507 6.55 0 Cell membrane NA PE1 13 +NX_Q8N7K0 673 77243 9.38 0 Nucleus NA PE1 19 +NX_Q8N7L0 139 16362 11.54 0 NA NA PE2 13 +NX_Q8N7M0 179 20730 9.04 0 NA NA PE1 1 +NX_Q8N7M2 679 77942 8.62 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8N7N1 296 32865 6 0 NA NA PE2 8 +NX_Q8N7P1 536 61312 8.93 1 Cytosol;Cytoplasmic vesicle;Mitochondrion;Membrane NA PE1 1 +NX_Q8N7P3 220 24509 5.7 4 Tight junction;Cell membrane NA PE2 4 +NX_Q8N7P7 452 48314 10.01 0 NA NA PE2 8 +NX_Q8N7Q2 184 20470 9.22 0 Secreted NA PE5 10 +NX_Q8N7Q3 588 67624 9.1 0 Nucleus NA PE2 19 +NX_Q8N7R0 232 26880 9.08 0 Nucleus NA PE5 12 +NX_Q8N7R1 296 31848 9.32 0 NA NA PE1 7 +NX_Q8N7R7 359 40705 5.7 0 Cell membrane NA PE1 2 +NX_Q8N7S2 189 21433 7.92 0 Membrane NA PE2 2 +NX_Q8N7S6 290 30424 11.74 1 Membrane NA PE2 3 +NX_Q8N7U6 833 93802 7.51 0 Nucleolus NA PE1 3 +NX_Q8N7U7 411 40603 10 0 Nucleus NA PE2 19 +NX_Q8N7U9 141 15976 5.8 0 NA NA PE5 17 +NX_Q8N7W2 519 57549 9.26 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA PE1 10 +NX_Q8N7X0 1667 189713 8.49 0 Mitochondrion;Nucleoplasm NA PE1 6 +NX_Q8N7X1 1067 114938 9.19 0 NA NA PE1 X +NX_Q8N7X2 386 42496 10.01 0 Cytoplasmic vesicle NA PE1 9 +NX_Q8N7X4 407 43992 5.39 0 NA NA PE1 X +NX_Q8N7X8 197 21283 9.59 1 Membrane NA PE2 19 +NX_Q8N7Y1 241 25772 10.92 0 NA NA PE5 11 +NX_Q8N7Z2 668 83069 5.25 0 NA NA PE2 15 +NX_Q8N7Z5 1873 210816 5.82 0 NA NA PE5 5 +NX_Q8N801 248 27807 9.61 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 2 +NX_Q8N806 425 47999 4.7 0 Nucleus NA PE1 14 +NX_Q8N807 584 66657 6.41 0 Endoplasmic reticulum NA PE1 16 +NX_Q8N808 338 35381 6.63 9 Membrane NA PE2 17 +NX_Q8N812 135 14959 6.63 0 Cytoskeleton;Cell membrane NA PE2 12 +NX_Q8N813 242 26007 8.48 0 NA NA PE2 3 +NX_Q8N814 137 14437 5.26 0 NA NA PE5 7 +NX_Q8N815 330 36921 6.46 0 Nucleoplasm;Focal adhesion;Cell membrane NA PE2 17 +NX_Q8N816 258 27975 6.33 3 Membrane NA PE2 17 +NX_Q8N819 430 46170 6.21 0 Cytoplasmic vesicle NA PE2 19 +NX_Q8N823 705 81449 9.16 0 Nucleus NA PE1 19 +NX_Q8N831 410 45874 5.45 0 Cytosol;Nucleolus;Centrosome NA PE1 2 +NX_Q8N841 843 96401 9.03 0 Cytoplasmic vesicle;Cytoskeleton;Cilium;Cilium basal body NA PE1 17 +NX_Q8N859 430 50172 6.51 0 Nucleolus;Nucleus NA PE1 7 +NX_Q8N865 590 68464 6.9 0 Nucleoplasm;Mitochondrion;Centrosome NA PE1 7 +NX_Q8N878 549 62523 8.52 0 Cytoskeleton NA PE2 6 +NX_Q8N883 585 67215 9.25 0 Cytosol;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA PE1 19 +NX_Q8N884 522 58814 9.54 0 Cytosol;Microtubule organizing center NA PE1 6 +NX_Q8N888 145 16258 9.12 0 NA NA PE5 Y +NX_Q8N895 744 85107 8.88 0 Nucleus NA PE1 5 +NX_Q8N8A2 993 107603 5.85 0 Mitochondrion;Nucleus speckle NA PE1 2 +NX_Q8N8A6 666 72457 8.43 0 Cytosol;Nucleolus;Nucleus NA PE1 12 +NX_Q8N8A8 192 21411 5.58 0 NA NA PE2 15 +NX_Q8N8B7 351 40245 8.86 0 NA NA PE1 X +NX_Q8N8C0 355 41526 10.4 0 Nucleoplasm;Nucleus NA PE2 19 +NX_Q8N8D1 485 54700 9.97 0 Nucleolus;Nucleus;Cell membrane NA PE1 15 +NX_Q8N8D7 197 22620 5.41 4 Cell membrane NA PE2 8 +NX_Q8N8D9 126 14652 6.77 0 Mitochondrion NA PE2 5 +NX_Q8N8E1 139 13175 11.41 0 NA NA PE5 12 +NX_Q8N8E2 541 57882 7.49 0 Nucleus Retinitis pigmentosa 58 PE1 2 +NX_Q8N8E3 955 112749 6.25 0 Nucleoplasm;Centrosome;Golgi apparatus NA PE1 17 +NX_Q8N8F6 280 30632 4.76 5 Endoplasmic reticulum membrane;cis-Golgi network membrane;trans-Golgi network membrane NA PE1 4 +NX_Q8N8F7 131 14462 5.22 1 Cytosol;Membrane NA PE1 7 +NX_Q8N8G2 317 33426 6.33 0 Nucleus NA PE1 6 +NX_Q8N8G6 183 21040 9.87 0 NA NA PE2 15 +NX_Q8N8H1 164 18964 6.49 0 Nucleoplasm NA PE5 19 +NX_Q8N8I0 201 22907 9.4 0 Cytosol;Golgi apparatus NA PE1 8 +NX_Q8N8I6 264 28326 11.2 0 NA NA PE5 17 +NX_Q8N8J0 262 29179 6.83 0 NA NA PE5 22 +NX_Q8N8J6 731 83739 9.35 0 Mitochondrion;Nucleolus;Nucleus NA PE1 19 +NX_Q8N8J7 132 14653 4.6 1 Golgi apparatus;Membrane NA PE1 4 +NX_Q8N8K9 716 79212 6.38 0 Cytosol;Cell membrane NA PE1 9 +NX_Q8N8L2 437 50950 9.45 0 Nucleus NA PE2 19 +NX_Q8N8L6 244 27459 4.58 0 NA NA PE1 5 +NX_Q8N8M0 369 40521 6.49 0 Nucleus NA PE2 7 +NX_Q8N8N0 203 22357 8.2 1 Lysosome membrane NA PE1 18 +NX_Q8N8N7 351 38499 5.27 0 Cytoplasmic vesicle;Cytoplasm NA PE1 14 +NX_Q8N8P6 123 13896 9.36 0 NA NA PE2 X +NX_Q8N8P7 122 13691 5.58 0 Secreted NA PE2 11 +NX_Q8N8Q1 229 25424 10.02 6 Membrane NA PE2 1 +NX_Q8N8Q3 282 30792 8.34 0 Cytoplasm;Nucleolus NA PE1 17 +NX_Q8N8Q8 333 37063 9.86 3 Mitochondrion inner membrane NA PE1 4 +NX_Q8N8Q9 360 39185 8.46 9 Golgi apparatus;Cell membrane;Early endosome NA PE1 15 +NX_Q8N8R3 303 32062 9.03 6 Mitochondrion inner membrane NA PE1 14 +NX_Q8N8R5 385 43448 8.31 0 Secreted NA PE1 2 +NX_Q8N8R7 260 29338 8.42 0 Cytosol;Cytoplasm;Focal adhesion;Nucleus;Cytoplasmic vesicle NA PE1 11 +NX_Q8N8S7 591 66510 6.51 0 Synapse;Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Filopodium;Lamellipodium;Cytoskeleton NA PE1 1 +NX_Q8N8U2 506 56500 8.99 0 Nucleus NA PE1 16 +NX_Q8N8U3 475 52817 4.43 0 Nucleoplasm;Nucleus;Golgi apparatus;Cell membrane NA PE2 X +NX_Q8N8U9 685 75997 8.18 0 Secreted Diaphanospondylodysostosis PE1 7 +NX_Q8N8V2 638 72513 5.72 0 Membrane NA PE1 1 +NX_Q8N8V4 417 46597 4.99 0 Microvillus;Nucleoplasm;Cytosol NA PE1 16 +NX_Q8N8V8 129 13990 11.62 2 Membrane NA PE2 17 +NX_Q8N8W4 532 57875 8.35 0 Cytoplasm;Cytoskeleton Ichthyosis, congenital, autosomal recessive 10 PE1 6 +NX_Q8N8X9 362 42357 8.84 0 Nucleoplasm NA PE1 1 +NX_Q8N8Y2 350 40426 5.18 0 Cytoplasmic vesicle NA PE1 8 +NX_Q8N8Y5 198 22806 9.46 0 Nucleolus;Nucleus;Cell membrane NA PE2 8 +NX_Q8N8Z3 221 24207 11.22 0 NA NA PE2 10 +NX_Q8N8Z6 715 77920 8.26 1 Membrane NA PE1 6 +NX_Q8N8Z8 693 80136 8.82 0 Nucleus speckle;Nucleus NA PE1 19 +NX_Q8N907 189 20180 9.89 0 Mitochondrion;Secreted NA PE2 19 +NX_Q8N910 161 17040 11.89 0 NA NA PE2 15 +NX_Q8N912 160 18051 11.21 1 Cell membrane NA PE2 14 +NX_Q8N944 861 90445 5.48 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA PE1 2 +NX_Q8N945 189 21905 8.98 0 Nucleoplasm NA PE1 5 +NX_Q8N954 285 33277 5.68 0 Kinetochore;Nucleus NA PE1 2 +NX_Q8N957 763 87604 8.69 0 NA NA PE2 17 +NX_Q8N960 986 112640 5.9 0 Cytosol;Cytoskeleton;Centrosome Short-rib thoracic dysplasia 13 with or without polydactyly;Joubert syndrome 31 PE1 5 +NX_Q8N961 1025 113656 5.87 0 Nucleus NA PE1 11 +NX_Q8N966 263 29100 9.5 2 Cell membrane;Membrane NA PE1 14 +NX_Q8N967 370 41158 8.17 1 Membrane NA PE1 12 +NX_Q8N972 641 74652 9.22 0 Nucleus NA PE1 19 +NX_Q8N976 141 14881 6.53 0 NA NA PE5 7 +NX_Q8N983 215 23431 8.97 0 Mitochondrion;Nucleoplasm NA PE1 10 +NX_Q8N987 351 40571 4.83 0 Nucleoplasm;Cytosol;Cytoplasm NA PE1 8 +NX_Q8N988 423 48627 9.22 0 Cytosol;Cytoskeleton;Nucleus NA PE1 19 +NX_Q8N998 374 43809 5.33 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 11 +NX_Q8N999 325 37490 6.6 0 Cytoplasmic vesicle;Cytoplasm NA PE1 12 +NX_Q8N9A8 125 14267 8.71 2 Cytosol;Cytoplasm;Nucleus membrane NA PE1 16 +NX_Q8N9B4 389 43052 6.01 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 11 +NX_Q8N9B5 988 111445 5.88 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 5 +NX_Q8N9B8 481 54556 7.6 0 Golgi apparatus NA PE1 10 +NX_Q8N9C0 903 100400 6.7 0 NA NA PE2 11 +NX_Q8N9E0 248 28941 10.1 0 NA NA PE1 X +NX_Q8N9F0 302 32837 9.05 1 Microsome membrane;Cytoplasm;Rough endoplasmic reticulum membrane;Membrane;Mitochondrion;Mitochondrion membrane N-acetylaspartate deficiency PE1 4 +NX_Q8N9F7 314 36167 8.66 2 Cytoplasm;Perinuclear region;Membrane NA PE1 17 +NX_Q8N9F8 522 60008 8.96 0 Nucleus NA PE1 5 +NX_Q8N9G6 341 37462 10.42 0 NA NA PE2 10 +NX_Q8N9H6 132 14527 9.23 0 NA NA PE5 8 +NX_Q8N9H8 876 96598 8.6 0 Cytoskeleton;Focal adhesion NA PE1 9 +NX_Q8N9H9 656 69787 5.32 0 NA NA PE2 1 +NX_Q8N9I0 419 46872 8.18 1 Cytoplasmic vesicle;Synaptic vesicle membrane;Chromaffin granule membrane Myasthenic syndrome, congenital, 7, presynaptic PE1 1 +NX_Q8N9I5 356 40447 8.13 6 Membrane NA PE2 17 +NX_Q8N9I9 347 37988 9.02 0 Cytoplasm;Nucleolus;Nucleus;Golgi apparatus NA PE1 12 +NX_Q8N9K5 539 62445 8.58 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8N9L1 334 36567 9.61 0 Cytosol;Nucleus NA PE1 3 +NX_Q8N9L7 120 13535 9.8 0 NA NA PE5 22 +NX_Q8N9L9 421 46327 8.31 0 Peroxisome NA PE1 14 +NX_Q8N9M1 422 44746 10.12 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8N9M5 508 54175 5.59 1 Cytoplasmic vesicle;Cell membrane NA PE1 17 +NX_Q8N9N2 400 45509 5.36 0 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm Barrett esophagus;Spinal muscular atrophy with congenital bone fractures 2 PE1 10 +NX_Q8N9N5 519 56494 5.27 0 Nucleoplasm;Nucleus NA PE1 16 +NX_Q8N9N7 239 26754 8.7 0 Mitochondrion;Cytosol;Membrane NA PE1 15 +NX_Q8N9N8 165 19053 5.14 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 11 +NX_Q8N9P0 234 25159 11.75 0 NA NA PE5 6 +NX_Q8N9P6 203 22154 11.66 0 NA NA PE2 9 +NX_Q8N9Q2 155 18177 9.86 0 Nucleolus;Nucleus NA PE1 5 +NX_Q8N9R0 145 15610 11.42 0 NA NA PE5 16 +NX_Q8N9R6 151 17514 10.05 0 Mitochondrion NA PE2 17 +NX_Q8N9R8 606 70399 8.78 1 Cytoplasm;Nucleus;Nucleus membrane;Membrane NA PE1 9 +NX_Q8N9S9 440 50802 6.62 0 Nucleoplasm;Cytosol;Golgi apparatus NA PE1 8 +NX_Q8N9T2 125 14163 9.29 0 NA NA PE5 X +NX_Q8N9T8 703 82598 5.06 0 Nucleolus NA PE1 19 +NX_Q8N9U0 490 55284 9.29 0 Nucleoplasm;Nucleus NA PE1 14 +NX_Q8N9U9 137 13254 12.18 0 NA NA PE5 X +NX_Q8N9V2 468 53002 5.36 0 NA NA PE1 4 +NX_Q8N9V3 476 52817 5.93 0 Cytosol;Nucleolus;Nucleus NA PE1 2 +NX_Q8N9V6 530 59571 9.58 0 Spindle;Spindle pole NA PE1 2 +NX_Q8N9V7 1692 190927 8.16 0 Cytosol NA PE1 3 +NX_Q8N9W4 909 100610 4.63 0 NA NA PE1 15 +NX_Q8N9W5 541 59410 5.66 0 Mitochondrion;Cytoplasm;Nucleus Ciliary dyskinesia, primary, 2 PE1 19 +NX_Q8N9W6 283 31301 6.59 0 Cytoplasm NA PE1 2 +NX_Q8N9W7 124 13731 8.96 1 Membrane NA PE5 15 +NX_Q8N9W8 422 47076 5.6 0 NA NA PE1 14 +NX_Q8N9X3 169 18887 11.31 0 NA NA PE5 1 +NX_Q8N9X5 138 15361 8.88 2 Cytoplasm;Cell membrane;Membrane NA PE5 8 +NX_Q8N9Y4 354 38724 9.75 0 NA NA PE1 14 +NX_Q8N9Z0 462 53489 9.36 0 Nucleus NA PE1 19 +NX_Q8N9Z2 235 26261 11.71 0 Cytosol;Cytoskeleton;Golgi apparatus NA PE1 7 +NX_Q8N9Z9 388 43408 9.18 0 Nucleoplasm;Centrosome NA PE1 12 +NX_Q8NA03 581 66121 5.08 0 Nucleoplasm NA PE1 15 +NX_Q8NA19 623 71122 7.11 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 18 +NX_Q8NA23 367 40840 8.65 0 Cytosol;Nucleus NA PE1 9 +NX_Q8NA29 543 60170 6.51 11 Endoplasmic reticulum membrane;Cytosol;Cell membrane Microcephaly 15, primary, autosomal recessive PE1 1 +NX_Q8NA31 727 83064 7.29 0 Nucleus inner membrane;Telomere NA PE1 16 +NX_Q8NA42 475 54613 8.21 0 Cytoplasm;Nucleus;Nucleus membrane NA PE1 19 +NX_Q8NA47 563 66250 9.08 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 12 +NX_Q8NA54 791 92581 6.21 0 Cytosol;Nucleus speckle;Cytoskeleton NA PE1 7 +NX_Q8NA56 475 55082 5.5 0 NA NA PE1 4 +NX_Q8NA57 414 47326 8.79 0 NA NA PE1 12 +NX_Q8NA58 520 60124 8.82 1 Endoplasmic reticulum membrane NA PE1 6 +NX_Q8NA61 448 51570 6.7 0 Cell junction;Cell membrane NA PE1 13 +NX_Q8NA66 436 50224 9.15 0 NA NA PE1 8 +NX_Q8NA69 505 57331 9.04 0 NA NA PE1 19 +NX_Q8NA70 645 73945 8.96 0 NA NA PE1 X +NX_Q8NA72 575 63351 6.97 0 Centriole;Nucleus;Centrosome NA PE1 5 +NX_Q8NA75 395 43747 8.85 0 NA NA PE1 8 +NX_Q8NA77 164 18469 3.85 0 Cytoplasm NA PE1 17 +NX_Q8NA82 808 90511 6.26 0 Cytosol;Cell membrane NA PE1 17 +NX_Q8NA92 274 30082 10.24 0 Nucleoplasm NA PE1 19 +NX_Q8NA96 180 19635 8.97 0 NA NA PE5 5 +NX_Q8NA97 138 15156 8.17 0 NA NA PE2 8 +NX_Q8NAA4 619 68998 9.2 0 Nucleoplasm;Cytoplasm NA PE1 11 +NX_Q8NAA5 344 37780 8.66 0 NA NA PE1 17 +NX_Q8NAA6 179 19737 9.93 0 NA NA PE2 15 +NX_Q8NAB2 608 69395 5.22 0 NA NA PE1 11 +NX_Q8NAC3 791 86240 5.73 1 Cell membrane Candidiasis, familial, 9 PE1 3 +NX_Q8NAE3 123 13125 6.11 0 NA NA PE2 1 +NX_Q8NAF0 562 60509 9.07 0 Nucleus NA PE1 19 +NX_Q8NAG6 615 66890 5.98 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 19 +NX_Q8NAJ2 232 25113 8.89 0 NA NA PE2 9 +NX_Q8NAM6 433 48957 6.47 0 Nucleus;Telomere NA PE1 19 +NX_Q8NAN2 632 71006 5.42 1 Mitochondrion;Mitochondrion outer membrane NA PE1 1 +NX_Q8NAP1 163 17846 8.78 0 NA NA PE5 7 +NX_Q8NAP3 1195 134257 8.34 0 Nucleoplasm;Nucleus;Chromosome NA PE1 3 +NX_Q8NAP8 495 54175 4.98 0 Nucleus NA PE1 1 +NX_Q8NAQ8 132 14168 11.48 0 NA NA PE2 16 +NX_Q8NAS9 161 17397 4.87 0 NA NA PE5 5 +NX_Q8NAT1 580 66615 8.81 1 Endoplasmic reticulum membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8 PE1 3 +NX_Q8NAT2 981 109737 8.31 0 Cytoplasm NA PE1 1 +NX_Q8NAU1 212 23659 6.91 1 Peroxisome membrane;Cell membrane;Secreted NA PE1 1 +NX_Q8NAV1 312 37477 9.97 0 Nucleus NA PE1 1 +NX_Q8NAV2 365 39661 8.52 0 Nucleus NA PE2 8 +NX_Q8NAX2 398 43642 6.1 0 Nucleoplasm;Cytoplasm;Spindle;Cell junction Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type PE1 1 +NX_Q8NB12 490 56617 6.66 0 Cytoplasm;Nucleus NA PE1 2 +NX_Q8NB14 1042 116546 5.82 0 Cytosol;Nucleoplasm NA PE1 4 +NX_Q8NB15 262 29428 6.31 0 Nucleus NA PE1 10 +NX_Q8NB16 471 54479 9 0 Cytoplasm;Cell membrane NA PE1 16 +NX_Q8NB25 1140 132965 5.59 0 Nucleoplasm;Cytosol;Golgi apparatus NA PE1 6 +NX_Q8NB37 220 23298 6.14 0 Nucleoplasm;Secreted NA PE1 11 +NX_Q8NB42 609 70902 8.35 0 Nucleus speckle;Nucleus;Golgi apparatus NA PE1 19 +NX_Q8NB46 1076 115077 6.01 0 Mitochondrion;Nucleoplasm NA PE1 12 +NX_Q8NB49 1132 129477 6.25 10 Endoplasmic reticulum membrane;Cell membrane Hemolytic anemia, congenital, X-linked PE1 X +NX_Q8NB50 900 102511 9.24 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 5 +NX_Q8NB59 555 62287 6.02 1 Cytoplasmic vesicle;Membrane Spinocerebellar ataxia, autosomal recessive, 11 PE1 1 +NX_Q8NB66 2214 250911 5.64 0 Cytoplasm;Presynaptic cell membrane;Membrane NA PE1 15 +NX_Q8NB78 822 92098 8.13 0 Nucleus NA PE1 6 +NX_Q8NB90 893 97904 5.5 0 Mitochondrion;Cytoplasm;Cytosol Epilepsy, hearing loss, and mental retardation syndrome PE1 4 +NX_Q8NB91 859 97726 7.79 0 Nucleus Fanconi anemia complementation group B PE1 X +NX_Q8NBA8 298 33416 8.95 0 Nucleus NA PE1 5 +NX_Q8NBB2 130 13907 11.83 0 NA NA PE5 15 +NX_Q8NBB4 408 45286 8.85 0 Nucleolus;Nucleus NA PE1 19 +NX_Q8NBC4 194 21159 11.74 0 Cytoplasm NA PE2 20 +NX_Q8NBD8 167 19531 5.68 4 Membrane NA PE2 14 +NX_Q8NBE8 558 63923 5.4 0 Nucleoplasm;Cytoskeleton NA PE1 2 +NX_Q8NBF1 620 65976 7.56 0 Nucleus NA PE1 1 +NX_Q8NBF2 726 79444 5.33 0 Nucleoplasm NA PE1 10 +NX_Q8NBF4 154 16182 11.26 0 NA NA PE5 7 +NX_Q8NBF6 648 71947 5.79 1 Recycling endosome;Endoplasmic reticulum;Membrane NA PE1 7 +NX_Q8NBH2 561 63855 7.1 0 Nucleoplasm;Cytoskeleton;Z line Myopathy, myofibrillar, 7 PE1 3 +NX_Q8NBI2 242 27214 9.64 6 Lysosome membrane;Late endosome membrane NA PE1 11 +NX_Q8NBI3 349 38650 7.62 0 Secreted NA PE1 1 +NX_Q8NBI5 491 54529 8.81 12 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Membrane NA PE1 11 +NX_Q8NBI6 393 43807 8.35 1 Endoplasmic reticulum membrane NA PE1 3 +NX_Q8NBJ4 401 45333 4.91 1 cis-Golgi network membrane;Golgi apparatus NA PE1 9 +NX_Q8NBJ5 622 71636 6.85 0 Cytoplasmic vesicle;Endoplasmic reticulum lumen NA PE1 19 +NX_Q8NBJ7 301 33843 7.78 0 Cytoplasmic vesicle;Endoplasmic reticulum lumen;Cell membrane NA PE1 7 +NX_Q8NBJ9 832 94454 6.55 10 Lysosome membrane;Cell membrane NA PE1 11 +NX_Q8NBK3 374 40556 6.18 0 Endoplasmic reticulum lumen Multiple sulfatase deficiency PE1 3 +NX_Q8NBL1 392 46189 8.91 0 Endoplasmic reticulum lumen Dowling-Degos disease 4;Limb-girdle muscular dystrophy 2Z PE1 3 +NX_Q8NBL3 297 33019 8.83 3 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nucleus NA PE1 2 +NX_Q8NBM4 344 38964 9.21 3 Endoplasmic reticulum membrane;Cytosol NA PE1 13 +NX_Q8NBM8 494 54646 6.81 0 Nucleoplasm;Mitochondrion;Secreted NA PE1 5 +NX_Q8NBN3 555 63430 6.32 7 Golgi apparatus membrane;Golgi apparatus NA PE1 15 +NX_Q8NBN7 331 35932 8.23 0 Mitochondrion;Cytosol NA PE1 19 +NX_Q8NBP0 860 96813 6.56 0 Nucleoplasm NA PE1 1 +NX_Q8NBP5 474 50619 9.28 9 Nucleolus;Membrane NA PE1 2 +NX_Q8NBP7 692 74286 6.14 0 Endosome;Golgi apparatus;Secreted;Cytoplasm;Lysosome;Endoplasmic reticulum;Cell surface Hypercholesterolemia, autosomal dominant, 3 PE1 1 +NX_Q8NBQ5 300 32936 9.2 0 Lipid droplet;Secreted NA PE1 4 +NX_Q8NBQ7 271 30203 8.08 6 Cytoplasmic vesicle;Nucleoplasm;Membrane NA PE1 11 +NX_Q8NBR0 393 42238 10.97 1 Cytoplasm;Cell membrane NA PE1 17 +NX_Q8NBR6 621 67106 4.44 0 Nucleoplasm NA PE1 15 +NX_Q8NBR9 251 27887 9.56 0 NA NA PE2 11 +NX_Q8NBS3 891 99581 7.59 11 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Membrane Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy;Corneal dystrophy and perceptive deafness PE1 20 +NX_Q8NBS9 432 47629 5.63 0 Endoplasmic reticulum lumen;Endoplasmic reticulum NA PE1 6 +NX_Q8NBT0 407 45009 7.31 0 Centriole;Cilium basal body;Centrosome;Spindle pole Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis PE1 3 +NX_Q8NBT2 197 22478 4.65 0 Kinetochore;Nucleolus;Nucleus NA PE1 19 +NX_Q8NBT3 493 55534 8.88 8 Cytoplasmic vesicle;Membrane NA PE2 19 +NX_Q8NBU5 361 40744 6.43 0 Nucleolus;Cytoplasm;Nucleus;Peroxisome;Mitochondrion;Postsynaptic cell membrane Hyperekplexia 4 PE1 10 +NX_Q8NBV4 271 29448 9.98 4 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nucleus;Nucleus envelope;Membrane NA PE1 9 +NX_Q8NBV8 401 44138 9.65 1 Nucleoplasm;Acrosome;Cell membrane;Cell junction NA PE1 11 +NX_Q8NBW4 561 63776 7.59 11 Cytoplasmic vesicle;Nucleoplasm;Lysosome membrane;Late endosome membrane NA PE1 5 +NX_Q8NBX0 429 47151 9.24 0 Cytoplasmic vesicle NA PE1 1 +NX_Q8NBZ0 244 26478 8.41 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 16 +NX_Q8NBZ7 420 47577 8.99 1 Golgi stack membrane NA PE1 2 +NX_Q8NBZ9 246 25156 10.69 0 NA NA PE5 1 +NX_Q8NC01 280 31952 5.93 1 Membrane NA PE1 12 +NX_Q8NC06 268 30308 6.83 0 Cytoplasmic vesicle;Nucleus NA PE1 17 +NX_Q8NC24 303 32405 6.42 1 Cytoplasmic vesicle;Cell membrane NA PE1 5 +NX_Q8NC26 417 47747 8.9 0 Cytosol;Nucleus NA PE1 19 +NX_Q8NC38 126 14381 9.35 0 NA NA PE2 1 +NX_Q8NC42 400 43165 6.08 1 Cytoplasmic vesicle;Cell membrane;Membrane NA PE1 2 +NX_Q8NC44 543 57830 4.39 3 Cytosol;Membrane NA PE1 2 +NX_Q8NC51 408 44965 8.66 0 Cytosol;Cytoplasm;Perinuclear region;Nucleus NA PE1 1 +NX_Q8NC54 265 29235 4.93 1 Golgi apparatus;Membrane NA PE1 5 +NX_Q8NC56 503 56975 9.16 2 Nucleus inner membrane;Nucleus membrane Cataract 46, juvenile-onset PE1 6 +NX_Q8NC60 698 78458 8.87 0 Mitochondrion;Mitochondrion inner membrane NA PE1 4 +NX_Q8NC67 525 59393 6.38 1 Golgi apparatus;Membrane NA PE1 16 +NX_Q8NC69 237 27610 5.61 0 Mitochondrion;M line;Nucleolus NA PE1 3 +NX_Q8NC74 664 71432 6.08 0 NA NA PE1 20 +NX_Q8NC96 275 29737 6.33 0 Cytoplasmic vesicle;Cytosol;Clathrin-coated vesicle membrane;Cell membrane Epileptic encephalopathy, early infantile, 21 PE1 12 +NX_Q8NCA5 519 55401 9.15 0 Cytoplasmic vesicle NA PE1 2 +NX_Q8NCA9 323 34237 7.95 0 Nucleus NA PE1 19 +NX_Q8NCB2 501 54354 5.38 0 Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;Cytoplasmic vesicle membrane;Cytoskeleton NA PE1 3 +NX_Q8NCC3 412 46658 6.26 0 Secreted;Nucleoplasm;Lysosome;Cytoplasmic vesicle;Membrane;Mitochondrion NA PE1 16 +NX_Q8NCC5 494 54486 5.46 12 Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 7 +NX_Q8NCD3 748 83539 9.4 0 Cytosol;Centromere;Nucleolus;Nucleus NA PE1 2 +NX_Q8NCE0 465 53247 7.95 0 Nucleoplasm;Cytosol;Nucleolus;Nucleus Pontocerebellar hypoplasia 2B PE1 3 +NX_Q8NCE2 650 72203 5.85 0 Cytoplasm Myopathy, centronuclear, 1 PE1 3 +NX_Q8NCF0 446 49585 8.54 0 Endosome;Golgi apparatus;Endoplasmic reticulum;Secreted NA PE2 16 +NX_Q8NCF5 419 45817 6.19 0 Cytoplasm;Nucleus NA PE1 16 +NX_Q8NCG5 386 45134 9.11 1 Golgi apparatus membrane NA PE1 16 +NX_Q8NCG7 672 73732 6.09 4 Cell membrane NA PE1 7 +NX_Q8NCH0 376 42997 9.55 1 Cytoplasmic vesicle;Golgi apparatus membrane Ehlers-Danlos syndrome, musculocontractural type 1 PE1 15 +NX_Q8NCI6 653 74823 9.05 0 NA NA PE1 11 +NX_Q8NCJ5 442 49694 5.78 0 Cytosol;Nucleoplasm;Cytoskeleton NA PE1 12 +NX_Q8NCK3 441 50280 9.68 0 Nucleus NA PE1 10 +NX_Q8NCK7 471 47791 8.67 12 Endoplasmic reticulum membrane;Cell membrane Diabetes mellitus, non-insulin-dependent PE1 17 +NX_Q8NCL4 622 71159 8.47 1 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus NA PE1 12 +NX_Q8NCL8 245 27464 9.13 4 Nucleoplasm;Cytoskeleton;Membrane NA PE2 12 +NX_Q8NCL9 501 55635 9.15 1 Mitochondrion;Membrane NA PE1 20 +NX_Q8NCM2 988 111877 7.51 6 Cytoskeleton;Spindle;Membrane NA PE1 14 +NX_Q8NCM8 4307 492622 6.13 0 Mitochondrion;Cytoplasm;Cell membrane;Cilium axoneme Short-rib thoracic dysplasia 3 with or without polydactyly PE1 11 +NX_Q8NCN2 500 55534 6 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q8NCN4 708 77194 9.28 0 Nucleoplasm;Nucleus speckle NA PE1 11 +NX_Q8NCN5 879 99364 5.93 0 Mitochondrion matrix;Mitochondrion NA PE1 16 +NX_Q8NCP5 570 63848 6.16 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q8NCQ2 148 16070 11.82 0 NA NA PE2 19 +NX_Q8NCQ3 95 11012 8.74 1 Membrane NA PE5 11 +NX_Q8NCQ5 510 57258 8.88 0 NA NA PE1 18 +NX_Q8NCQ7 364 40506 7.94 0 NA NA PE1 17 +NX_Q8NCR0 500 56704 5.46 1 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus;Endoplasmic reticulum Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 PE1 1 +NX_Q8NCR3 313 36720 7.22 0 NA NA PE1 11 +NX_Q8NCR6 262 30167 8.76 0 Cytoplasm;Cytoskeleton;Nucleus NA PE1 9 +NX_Q8NCR9 226 25321 9.3 4 Membrane NA PE1 10 +NX_Q8NCS4 154 16885 9.26 3 Nucleolus;Nucleus;Membrane NA PE1 1 +NX_Q8NCS7 719 81694 8.47 10 Cytosol;Membrane NA PE1 1 +NX_Q8NCT1 418 45479 5.84 0 Cytoplasmic vesicle;Cell membrane;Early endosome NA PE1 15 +NX_Q8NCT3 520 60525 10.03 0 Cytosol;Nucleus;Cell junction;Cell membrane NA PE1 7 +NX_Q8NCU1 143 16081 6.11 0 NA NA PE1 14 +NX_Q8NCU4 936 110568 9.61 0 Mitochondrion NA PE1 3 +NX_Q8NCU7 369 39744 11.28 0 Nucleus NA PE1 15 +NX_Q8NCU8 56 6527 11.27 1 Mitochondrion inner membrane NA PE1 2 +NX_Q8NCV1 583 61755 9.11 0 NA NA PE1 16 +NX_Q8NCW0 462 48849 7.44 1 Nucleolus;Membrane NA PE1 16 +NX_Q8NCW5 288 31675 7.56 0 Cytosol;Nucleoplasm;Mitochondrion;Secreted Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy PE1 1 +NX_Q8NCW6 608 68919 8.47 1 Golgi apparatus membrane NA PE1 7 +NX_Q8NCX0 1101 128761 6.58 0 Nucleoplasm NA PE1 2 +NX_Q8NCY6 345 41150 5.37 0 Nucleus NA PE1 11 +NX_Q8ND04 991 109684 7.74 0 Nucleoplasm NA PE1 17 +NX_Q8ND07 529 61987 9.07 0 Microtubule organizing center;Nucleus;Cell membrane;Cilium basal body NA PE1 14 +NX_Q8ND23 1372 150230 7.2 0 Cytoplasm;Cell membrane NA PE1 14 +NX_Q8ND24 703 77667 6.51 0 Cytosol;Golgi apparatus NA PE1 11 +NX_Q8ND25 227 23783 6.18 0 Synaptic vesicle membrane;Golgi apparatus;Lysosome;Endosome;Cell membrane;Membrane NA PE1 16 +NX_Q8ND30 876 98544 5.88 0 Mitochondrion NA PE1 11 +NX_Q8ND56 463 50530 9.55 0 Cytosol;Stress granule;P-body NA PE1 19 +NX_Q8ND61 904 101266 9.24 1 Cytoplasm;Membrane NA PE1 3 +NX_Q8ND71 665 74890 8.62 0 Cytosol;Mitochondrion;Endoplasmic reticulum;Golgi apparatus NA PE1 7 +NX_Q8ND76 341 39337 6.76 0 Nucleus;Cell membrane NA PE1 10 +NX_Q8ND82 737 83096 9.29 0 Nucleolus;Nucleus NA PE1 X +NX_Q8ND83 568 60595 7.57 0 Nucleoplasm;Cytosol;Cytoskeleton NA PE1 13 +NX_Q8ND90 353 39761 4.78 0 Cytosol;Focal adhesion;Nucleolus NA PE1 14 +NX_Q8ND94 238 25262 6.07 1 Nucleoplasm;Nucleus;Membrane NA PE1 11 +NX_Q8NDA2 5059 541978 5.57 0 Cytoplasmic vesicle;Cleavage furrow;Extracellular matrix NA PE1 9 +NX_Q8NDA8 1641 181249 6.44 0 NA NA PE1 8 +NX_Q8NDB2 785 89282 5.28 0 Nucleoplasm;Cytosol;Cell membrane Systemic lupus erythematosus PE1 4 +NX_Q8NDB6 213 24412 9.75 1 Nucleus envelope;Membrane NA PE1 X +NX_Q8NDC0 245 24269 5.3 0 Cytosol;Nucleoplasm NA PE1 14 +NX_Q8NDC4 146 16236 7.88 0 Cytoplasm;Stereocilium;Nucleus;Filopodium tip NA PE1 10 +NX_Q8NDD1 293 32610 9.88 0 Cytosol;Nucleolus;Nucleus;Chromosome NA PE1 1 +NX_Q8NDF8 572 63267 9.07 0 Cytoplasm;Nucleolus;Nucleus NA PE1 16 +NX_Q8NDG6 1382 155683 6.62 0 Cytoplasm;Nucleus NA PE1 14 +NX_Q8NDH2 2452 277951 9.35 0 NA NA PE1 13 +NX_Q8NDH3 523 55861 6.41 0 Nucleoplasm NA PE1 20 +NX_Q8NDH6 482 54407 5.18 0 Mitochondrion NA PE1 2 +NX_Q8NDI1 1231 140017 5.24 0 Cytosol;Cytoplasm;Endosome;Cell membrane;Membrane Prostate cancer, hereditary, 12 PE1 2 +NX_Q8NDL9 886 97534 9.34 0 Cytosol;Cytoplasm;Spindle;Nucleus;Cytoskeleton;Midbody Retinitis pigmentosa 75 PE1 2 +NX_Q8NDM7 1665 191984 5.71 0 Cytoplasm;Flagellum axoneme;Flagellum Spermatogenic failure 19 PE1 10 +NX_Q8NDN9 531 58252 6.02 0 Nucleoplasm;Cytoplasm;Nucleus Retinal dystrophy with or without extraocular anomalies PE1 13 +NX_Q8NDP4 499 58395 9.4 0 Nucleus NA PE1 19 +NX_Q8NDQ6 660 77094 9.58 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA PE1 19 +NX_Q8NDT2 890 97205 9.86 0 Nucleoplasm;Nucleus speckle;Nucleus envelope NA PE1 3 +NX_Q8NDV1 305 35395 9.23 1 Nucleoplasm;Golgi apparatus membrane NA PE1 1 +NX_Q8NDV2 337 37604 9.82 7 Cell membrane NA PE1 10 +NX_Q8NDV3 1235 143908 7.69 0 Cytosol;Centromere;Nucleus;Chromosome;Nucleoplasm NA PE1 22 +NX_Q8NDV7 1962 210297 6.55 0 Nucleoplasm;Cytoplasmic vesicle;P-body;Golgi apparatus NA PE1 16 +NX_Q8NDW4 579 67087 8.59 0 Nucleoplasm;Nucleus NA PE1 10 +NX_Q8NDW8 1320 150944 6.85 0 Nucleoplasm NA PE1 3 +NX_Q8NDX1 1056 116249 5.31 0 Cell membrane;Ruffle membrane NA PE1 2 +NX_Q8NDX2 589 64991 5.95 12 Synaptosome;Synaptic vesicle membrane;Membrane Deafness, autosomal dominant, 25 PE1 12 +NX_Q8NDX5 983 106162 6.15 0 Nucleus NA PE1 3 +NX_Q8NDX6 193 21857 9.38 0 Nucleus NA PE1 12 +NX_Q8NDX9 201 22572 6.17 0 Secreted NA PE1 6 +NX_Q8NDY3 354 40105 5.58 0 Nucleoplasm NA PE1 13 +NX_Q8NDY4 140 15384 8.83 0 NA NA PE2 1 +NX_Q8NDY6 225 23665 9.37 0 Nucleus NA PE1 20 +NX_Q8NDY8 209 22122 5.53 1 Membrane NA PE2 1 +NX_Q8NDZ0 799 87919 5.23 0 NA NA PE1 X +NX_Q8NDZ2 872 96838 6.1 0 Nucleolus;Nucleus NA PE1 5 +NX_Q8NDZ4 430 49482 8.84 0 COPI-coated vesicle;Golgi apparatus;Secreted NA PE1 3 +NX_Q8NDZ6 487 55482 8.59 8 Membrane NA PE1 5 +NX_Q8NDZ9 215 22305 12.41 0 NA NA PE5 10 +NX_Q8NE00 496 55679 6.79 11 Nucleoplasm;Golgi apparatus;Membrane NA PE1 17 +NX_Q8NE01 707 76119 5.76 4 Cytosol;Cell membrane NA PE1 2 +NX_Q8NE09 1264 147163 8.08 0 Cytoplasm;Nucleus NA PE1 8 +NX_Q8NE18 718 81039 8.95 0 Cytoplasmic vesicle NA PE1 4 +NX_Q8NE22 299 34095 8.93 0 Nucleoplasm NA PE1 5 +NX_Q8NE28 680 75677 5.17 0 NA NA PE1 9 +NX_Q8NE31 585 65727 5.5 0 Cytosol;Nucleoplasm NA PE1 10 +NX_Q8NE35 698 76014 6.56 0 Postsynaptic density;Cytoplasm;Synapse;Nucleus;Dendrite NA PE1 10 +NX_Q8NE62 594 65358 8.57 0 Mitochondrion inner membrane NA PE1 3 +NX_Q8NE63 616 69425 6.18 0 Cytoplasm NA PE1 19 +NX_Q8NE65 137 15884 4.99 0 Nucleus NA PE1 19 +NX_Q8NE71 845 95926 6.4 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus envelope NA PE1 6 +NX_Q8NE79 360 41451 8.02 3 Cell membrane;Sarcolemma;Membrane;Caveola;Cell junction;Tight junction;Lateral cell membrane Limb-girdle muscular dystrophy 2X PE1 6 +NX_Q8NE86 351 39867 8.83 2 Mitochondrion;Mitochondrion inner membrane NA PE1 10 +NX_Q8NEA4 188 22105 8.64 0 Nucleolus;Nucleus NA PE1 2 +NX_Q8NEA5 215 24151 9.06 1 Golgi apparatus;Membrane NA PE1 19 +NX_Q8NEA6 775 83636 8.34 0 Nucleoplasm;Nucleus Diabetes mellitus, neonatal, with congenital hypothyroidism PE1 9 +NX_Q8NEA9 526 60299 8.48 0 Nucleus matrix NA PE1 5 +NX_Q8NEB5 264 29484 8.81 5 Cytoplasmic vesicle;Membrane NA PE1 8 +NX_Q8NEB7 543 61359 5.09 0 Cytoplasmic vesicle;Nucleoplasm;Acrosome;Secreted NA PE1 12 +NX_Q8NEB9 887 101549 6.37 0 Late endosome;Midbody;Autophagosome NA PE1 18 +NX_Q8NEC5 780 90091 7.22 6 Flagellum membrane Spermatogenic failure 7 PE1 11 +NX_Q8NEC7 633 71079 8.04 0 Cytoplasm;Nucleus NA PE1 4 +NX_Q8NEE0 82 9662 10.17 0 NA NA PE5 2 +NX_Q8NEE6 735 83924 9.03 0 Flagellum axoneme NA PE2 7 +NX_Q8NEE8 873 98309 9.15 0 NA NA PE1 9 +NX_Q8NEF3 446 53565 9.48 0 Nucleoplasm;Cytosol;Cell membrane NA PE1 5 +NX_Q8NEF9 429 48634 9.59 0 Cytoplasmic vesicle;Perinuclear region;Nucleolus;Nucleus NA PE1 5 +NX_Q8NEG0 241 27472 6.53 0 NA NA PE1 12 +NX_Q8NEG2 295 32846 7.78 0 NA NA PE1 7 +NX_Q8NEG4 500 55486 8.38 0 Mitochondrion;Nucleus NA PE1 22 +NX_Q8NEG5 633 72732 8.95 0 NA NA PE1 2 +NX_Q8NEG7 585 66464 9.11 0 Cytoplasm;Recycling endosome;Cell membrane NA PE1 22 +NX_Q8NEH6 495 60571 6.73 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 15 +NX_Q8NEJ0 188 21066 7.04 0 Nucleoplasm;Cytoplasm;Nucleus;Mitochondrion inner membrane NA PE1 22 +NX_Q8NEJ9 315 35894 9.57 0 Nucleolus;Cytoplasm;Axon;Dendrite;Nucleus;Filopodium;Mitochondrion;Centromere NA PE1 14 +NX_Q8NEK5 533 62728 8.37 0 Nucleus NA PE1 19 +NX_Q8NEK8 389 44500 6.17 0 NA NA PE1 X +NX_Q8NEL0 328 37886 8.61 0 NA NA PE1 3 +NX_Q8NEL9 900 100435 5.42 0 Cytoplasm Spastic paraplegia 28, autosomal recessive PE1 14 +NX_Q8NEM0 835 92849 8.56 0 Nucleoplasm;Nucleus;Centrosome Microcephaly 1, primary, autosomal recessive PE1 8 +NX_Q8NEM1 530 61798 9.19 0 Nucleus NA PE1 7 +NX_Q8NEM2 672 75690 4.66 0 Spindle;Cytoskeleton;Nucleus;Midbody NA PE1 16 +NX_Q8NEM7 779 85789 8.77 0 Nucleolus;Nucleus NA PE1 13 +NX_Q8NEM8 1001 116011 8.98 0 Cytosol;Mitochondrion;Nucleus speckle NA PE2 7 +NX_Q8NEN0 867 96867 8.53 0 Cytoplasm;Nucleus NA PE1 6 +NX_Q8NEN9 1154 128563 5.78 1 Endoplasmic reticulum membrane;Nucleolus;Cell membrane NA PE1 10 +NX_Q8NEP3 725 80026 4.57 0 Nucleus speckle;Cytosol;Cytoplasm;Cell membrane;Spindle pole;Cilium Ciliary dyskinesia, primary, 13 PE1 16 +NX_Q8NEP4 570 63111 9.29 0 NA NA PE1 17 +NX_Q8NEP7 349 37754 8.71 0 Nucleoplasm NA PE1 1 +NX_Q8NEP9 628 73084 9.26 0 Nucleus NA PE1 19 +NX_Q8NEQ5 155 16886 9.05 1 Membrane NA PE1 1 +NX_Q8NEQ6 169 17657 9.23 0 Nucleoplasm NA PE1 1 +NX_Q8NER1 839 94956 6.9 6 Postsynaptic cell membrane;Dendritic spine membrane;Cell membrane;Endoplasmic reticulum NA PE1 17 +NX_Q8NER5 493 54871 8.22 1 Membrane NA PE1 2 +NX_Q8NES3 379 41773 9.35 1 Golgi apparatus membrane Spondylocostal dysostosis 3, autosomal recessive PE1 7 +NX_Q8NES8 71 8058 8.26 0 Secreted NA PE3 20 +NX_Q8NET1 73 8326 8.65 0 Secreted NA PE2 11 +NX_Q8NET4 1388 144280 5.81 0 NA NA PE1 X +NX_Q8NET5 270 29686 9.04 1 Cell membrane NA PE1 22 +NX_Q8NET6 341 38920 10.56 1 Golgi apparatus membrane NA PE1 3 +NX_Q8NET8 790 90636 6.17 6 Cytosol;Centrosome;Cell membrane;Membrane Olmsted syndrome;Palmoplantar keratoderma, non-epidermolytic, focal 2 PE1 17 +NX_Q8NEU8 664 74493 4.87 0 Early endosome membrane;Nucleus NA PE1 12 +NX_Q8NEV1 391 45220 8.54 0 NA NA PE1 11 +NX_Q8NEV4 1616 186208 9.04 0 Cytosol;Cytoplasm;Stereocilium;Filopodium tip;Cell membrane;Cytoskeleton Deafness, autosomal recessive, 30 PE1 10 +NX_Q8NEV8 1989 222519 7.98 0 NA Epidermolysis bullosa, non-specific, autosomal recessive PE1 11 +NX_Q8NEV9 243 27493 6.18 0 Secreted NA PE1 16 +NX_Q8NEW0 376 41626 6.43 6 trans-Golgi network membrane;Golgi apparatus NA PE1 1 +NX_Q8NEW7 156 17241 9.43 1 Cytoplasmic vesicle;Cytosol;Membrane Deafness, autosomal recessive, 6 PE1 3 +NX_Q8NEX5 89 10506 7.5 0 Secreted NA PE1 20 +NX_Q8NEX6 87 10340 8.75 0 Secreted NA PE2 20 +NX_Q8NEX9 313 35263 9.26 0 Cytosol;Cytoplasm;Nucleolus Ichthyosis, congenital, autosomal recessive 13 PE1 12 +NX_Q8NEY1 1877 202472 8.2 0 Cytoskeleton NA PE1 1 +NX_Q8NEY3 305 34751 9.86 0 Nucleus NA PE1 4 +NX_Q8NEY4 427 48759 5.82 0 Mitochondrion NA PE1 2 +NX_Q8NEY8 458 52737 9.15 0 Nucleoplasm;Cytoplasm;Nucleus;Chromosome;Golgi apparatus NA PE1 12 +NX_Q8NEZ2 397 44314 5.37 0 Cytoplasmic vesicle;Cytosol;Late endosome membrane;Nucleus;Centrosome Spastic paraplegia 53, autosomal recessive PE1 8 +NX_Q8NEZ3 1342 151581 5.94 0 Nucleoplasm;Photoreceptor outer segment;Nucleus;Cilium;Cilium basal body Short-rib thoracic dysplasia 5 with or without polydactyly;Cranioectodermal dysplasia 4;Senior-Loken syndrome 8;Nephronophthisis 13 PE1 4 +NX_Q8NEZ4 4911 541370 6.07 0 Nucleoplasm;Nucleus Kleefstra syndrome 2 PE1 7 +NX_Q8NEZ5 403 44508 6.61 0 Z line NA PE1 15 +NX_Q8NF37 534 59151 5.77 1 Endoplasmic reticulum membrane;Lipid droplet;Golgi apparatus membrane;Endoplasmic reticulum NA PE1 5 +NX_Q8NF50 2099 238529 6.43 0 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Lamellipodium membrane;Mitochondrion;Centrosome Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;Mental retardation, autosomal dominant 2 PE1 9 +NX_Q8NF64 920 96537 6.68 0 Nucleoplasm;Nucleus NA PE1 7 +NX_Q8NF67 263 31171 5.19 0 NA NA PE5 1 +NX_Q8NF86 280 29787 10.03 0 Secreted NA PE1 16 +NX_Q8NF91 8797 1011086 5.37 1 Nucleus membrane;Golgi apparatus;Nucleus outer membrane;Nucleoplasm;Nucleus envelope;Nucleus;Sarcomere;Cytoskeleton Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive, 8 PE1 6 +NX_Q8NF99 534 61139 6.93 0 Nucleolus;Cytosol;Cytoplasm;Cell membrane;Nucleus;Cytoskeleton NA PE1 18 +NX_Q8NFA0 1604 181656 6.01 0 Cytosol;Golgi apparatus;Membrane NA PE1 17 +NX_Q8NFA2 376 41253 9.9 0 Cell membrane NA PE1 16 +NX_Q8NFB2 350 40631 6.79 7 Dendrite;Membrane NA PE1 X +NX_Q8NFC6 3051 330466 5 0 Nucleoplasm;Cytoplasm;Chromosome NA PE1 4 +NX_Q8NFD2 765 84632 6.6 0 NA NA PE2 11 +NX_Q8NFD4 153 16997 11.11 0 NA NA PE2 9 +NX_Q8NFD5 2236 236123 6.26 0 Nucleoplasm;Nucleolus;Nucleus Coffin-Siris syndrome 1 PE1 6 +NX_Q8NFF2 622 69042 7.48 10 Cytoplasm;Cell membrane Amelogenesis imperfecta, hypomaturation type, 2A5 PE1 14 +NX_Q8NFF5 587 65266 6.49 0 Cytosol;Mitochondrion matrix;Cell membrane;Cytoplasm Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency PE1 1 +NX_Q8NFG4 579 64473 5.83 0 Cytosol;Cytoplasm;Nucleus;Cell membrane Birt-Hogg-Dube syndrome;Renal cell carcinoma;Primary spontaneous pneumothorax PE1 17 +NX_Q8NFH3 380 42151 5.31 0 Kinetochore;Nuclear pore complex NA PE1 6 +NX_Q8NFH4 326 36708 5.55 0 Kinetochore;Nucleoplasm;Nuclear pore complex NA PE1 12 +NX_Q8NFH5 326 34774 9.15 0 Nucleoplasm;Nuclear pore complex;Nucleus membrane;Cell membrane NA PE1 2 +NX_Q8NFH8 660 71534 7.56 0 Cytoplasm NA PE1 X +NX_Q8NFI3 743 83987 6.34 0 Cytosol;Centrosome NA PE1 17 +NX_Q8NFI4 369 41378 4.96 0 Cytoplasm NA PE5 11 +NX_Q8NFJ5 357 40251 8.39 7 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Cell membrane NA PE1 12 +NX_Q8NFJ6 384 43996 9.04 7 Cell membrane Hypogonadotropic hypogonadism 3 with or without anosmia PE1 20 +NX_Q8NFJ8 381 36997 7.04 0 Nucleus NA PE1 8 +NX_Q8NFJ9 593 65083 8.02 0 Cytoplasm;Centriolar satellite;Midbody;Cilium membrane Bardet-Biedl syndrome 1 PE1 11 +NX_Q8NFK1 279 31299 9.35 4 Gap junction;Cell membrane NA PE1 7 +NX_Q8NFL0 401 45987 9.2 1 Golgi apparatus membrane NA PE1 2 +NX_Q8NFM4 1077 119794 7.31 12 Cytoplasm;Cell membrane NA PE1 14 +NX_Q8NFM7 739 82411 6.78 1 Nucleoplasm;Cytoplasm;Golgi apparatus membrane;Cell membrane;Golgi apparatus Hypogonadotropic hypogonadism 18 with or without anosmia PE1 3 +NX_Q8NFN8 814 89097 7.74 7 Cell membrane NA PE2 3 +NX_Q8NFP0 134 16023 9.17 0 Peroxisome NA PE2 6 +NX_Q8NFP4 955 105790 8.65 0 Golgi apparatus;Cell membrane NA PE1 6 +NX_Q8NFP7 164 18500 5.52 0 Cytoplasm NA PE1 X +NX_Q8NFP9 2946 327822 5.78 0 Nucleolus;Golgi apparatus;Cytosol;Cytoplasm;Nucleus;Membrane NA PE1 13 +NX_Q8NFQ5 453 49717 8.97 0 Secreted NA PE1 20 +NX_Q8NFQ6 507 56469 5.56 0 Secreted NA PE2 22 +NX_Q8NFQ8 470 51263 4.84 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus membrane NA PE1 1 +NX_Q8NFR3 76 9198 7.72 2 Endoplasmic reticulum membrane NA PE1 3 +NX_Q8NFR7 591 71076 9 0 Nucleolus;Nucleus NA PE1 2 +NX_Q8NFR9 667 74810 9.43 1 Cytoplasm;Cell membrane;Secreted NA PE1 3 +NX_Q8NFT2 490 56056 9.28 6 Endosome membrane;Cytoplasmic vesicle;Cell membrane NA PE1 7 +NX_Q8NFT6 615 67243 8.72 0 Nucleus NA PE1 17 +NX_Q8NFT8 737 78475 5.03 1 Cell membrane NA PE1 2 +NX_Q8NFU0 473 53497 5.81 4 Cell membrane NA PE1 1 +NX_Q8NFU1 509 57139 5.11 4 Cell membrane NA PE1 19 +NX_Q8NFU3 115 12530 5.85 0 Cytosol;Perinuclear region NA PE1 1 +NX_Q8NFU4 85 9700 9.3 0 Secreted NA PE1 4 +NX_Q8NFU5 416 47222 7.27 0 Nucleus NA PE1 10 +NX_Q8NFU7 2136 235309 8.53 0 Nucleus;Nucleus membrane NA PE1 10 +NX_Q8NFV4 315 34690 9.5 0 Mitochondrion NA PE1 7 +NX_Q8NFV5 336 40668 9.52 0 NA NA PE2 7 +NX_Q8NFW1 1626 161145 6.88 0 Cytoplasmic vesicle;Cytoplasm;Endoplasmic reticulum;Extracellular matrix NA PE1 8 +NX_Q8NFW5 382 41198 8.76 0 Nucleus NA PE1 1 +NX_Q8NFW8 434 48379 8.16 0 Cytosol;Nucleolus;Nucleus NA PE1 12 +NX_Q8NFW9 859 95706 5.44 0 Nucleolus;Golgi apparatus;Cytoplasm;Perinuclear region;Secretory vesicle;Nucleus NA PE1 3 +NX_Q8NFX7 210 23554 9.19 0 Cytoplasm;Membrane NA PE1 14 +NX_Q8NFY4 1073 119872 8.77 1 Cytoplasm;Golgi apparatus;Cell membrane NA PE1 15 +NX_Q8NFY9 601 68823 5.88 0 Spindle;Golgi apparatus NA PE1 3 +NX_Q8NFZ0 1043 117686 8.58 0 Nucleus;Chromosome NA PE1 10 +NX_Q8NFZ3 816 92021 5.77 1 Postsynaptic density;Cell membrane NA PE2 Y +NX_Q8NFZ4 835 90820 5.78 1 Mitochondrion;Postsynaptic cell membrane;Cell membrane;Presynaptic cell membrane NA PE1 17 +NX_Q8NFZ5 429 48700 6.03 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 4 +NX_Q8NFZ6 395 44476 9.52 8 Cell membrane NA PE2 19 +NX_Q8NFZ8 388 42785 5.92 1 Nucleus;Nucleus membrane;Membrane NA PE1 19 +NX_Q8NG04 563 60059 8.6 5 Membrane NA PE2 12 +NX_Q8NG06 486 54766 5.87 0 NA NA PE1 1 +NX_Q8NG08 1087 123252 5.59 0 Cytoplasm;Nucleus;Chromosome NA PE1 12 +NX_Q8NG11 270 30691 6.41 4 Cytoplasmic vesicle;Cell membrane NA PE1 10 +NX_Q8NG27 643 71002 5.05 0 Nucleolus;Nucleus NA PE1 X +NX_Q8NG31 2342 265391 5.3 0 Nucleoplasm;Kinetochore;Nucleus Microcephaly 4, primary, autosomal recessive PE1 15 +NX_Q8NG35 78 8923 8.71 0 Secreted NA PE2 8 +NX_Q8NG41 125 13097 9.97 0 Secreted NA PE1 17 +NX_Q8NG48 757 85857 6.07 0 Nucleoplasm Mental retardation, autosomal recessive 27 PE1 15 +NX_Q8NG50 284 31970 5.75 0 Cajal body;Nucleolus;PML body;Cytosol;Cytoplasm;Nucleus NA PE1 17 +NX_Q8NG57 546 59744 9.86 0 Nucleus NA PE1 18 +NX_Q8NG66 645 74192 5 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 3 +NX_Q8NG68 377 43212 6.28 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 2 +NX_Q8NG75 326 36885 7.57 7 Cell membrane NA PE2 11 +NX_Q8NG76 320 35876 8.91 7 Cell membrane NA PE2 1 +NX_Q8NG77 320 35946 8.96 7 Cell membrane NA PE3 1 +NX_Q8NG78 346 38798 8.65 7 Cell membrane NA PE2 11 +NX_Q8NG80 312 35648 8.87 7 Cell membrane NA PE3 1 +NX_Q8NG81 312 34902 7.52 7 Cell membrane NA PE2 1 +NX_Q8NG83 312 34827 8.45 7 Cell membrane NA PE2 1 +NX_Q8NG84 335 37763 9.23 7 Cell membrane NA PE2 1 +NX_Q8NG85 312 35282 8.96 7 Cell membrane NA PE2 1 +NX_Q8NG92 308 34570 9.25 7 Cell membrane NA PE2 X +NX_Q8NG94 326 36578 8.35 7 Cell membrane NA PE3 22 +NX_Q8NG95 312 34439 8.53 7 Cell membrane NA PE3 19 +NX_Q8NG97 314 34444 7.57 7 Cell membrane NA PE2 19 +NX_Q8NG98 312 34448 7.05 7 Cell membrane NA PE2 19 +NX_Q8NG99 324 35931 8.51 7 Cell membrane NA PE3 19 +NX_Q8NGA0 311 34803 8.77 7 Cell membrane NA PE3 19 +NX_Q8NGA1 313 34840 9.18 7 Cell membrane NA PE2 19 +NX_Q8NGA2 310 34430 6.42 7 Cell membrane NA PE5 19 +NX_Q8NGA4 272 30291 9.49 5 Cell membrane NA PE5 19 +NX_Q8NGA5 316 35765 8.92 7 Cell membrane NA PE3 19 +NX_Q8NGA6 315 34900 8.92 7 Cell membrane NA PE2 19 +NX_Q8NGA8 305 34212 8.69 7 Cell membrane NA PE2 19 +NX_Q8NGB2 326 36862 6.57 7 Cell membrane NA PE3 11 +NX_Q8NGB4 309 34800 9 7 Cell membrane NA PE3 11 +NX_Q8NGB6 313 35416 7.48 7 Cell membrane NA PE2 15 +NX_Q8NGB8 312 35369 8.84 7 Cell membrane NA PE2 15 +NX_Q8NGB9 312 35355 8.88 7 Cell membrane NA PE2 15 +NX_Q8NGC0 362 40658 9.24 7 Cell membrane NA PE2 14 +NX_Q8NGC1 345 38871 9.47 7 Cell membrane NA PE3 14 +NX_Q8NGC2 313 35466 8.26 7 Cell membrane NA PE3 14 +NX_Q8NGC3 310 34472 9.04 7 Cell membrane NA PE2 14 +NX_Q8NGC4 313 35055 9.17 7 Cell membrane NA PE3 14 +NX_Q8NGC5 347 38693 8.84 7 Cell membrane NA PE3 14 +NX_Q8NGC6 315 35312 8.97 7 Cell membrane NA PE3 14 +NX_Q8NGC7 330 36788 8.59 7 Cell membrane NA PE3 14 +NX_Q8NGC8 314 35499 8.71 7 Cell membrane NA PE3 14 +NX_Q8NGC9 324 36886 9.05 7 Cell membrane NA PE2 14 +NX_Q8NGD0 313 35488 8.41 7 Cell membrane NA PE2 14 +NX_Q8NGD1 307 34721 9.06 7 Cell membrane NA PE2 14 +NX_Q8NGD2 314 35357 7.59 7 Cell membrane NA PE2 14 +NX_Q8NGD3 323 36258 8.77 7 Cell membrane NA PE3 14 +NX_Q8NGD4 311 35201 6.43 7 Cell membrane NA PE2 14 +NX_Q8NGD5 310 35053 8.46 7 Cell membrane NA PE3 14 +NX_Q8NGE0 317 35698 8.46 7 Cell membrane NA PE2 12 +NX_Q8NGE1 309 35010 8.91 7 Cell membrane NA PE2 12 +NX_Q8NGE2 309 34902 8.66 7 Cell membrane NA PE3 12 +NX_Q8NGE3 313 34741 9.77 7 Cell membrane NA PE2 12 +NX_Q8NGE5 316 35695 8.78 7 Cell membrane NA PE3 12 +NX_Q8NGE7 335 37746 8.68 6 Cell membrane NA PE2 12 +NX_Q8NGE8 314 35666 9.08 7 Cell membrane NA PE3 11 +NX_Q8NGE9 314 35363 8.83 7 Cell membrane NA PE2 11 +NX_Q8NGF0 335 36963 8.61 7 Cell membrane NA PE3 11 +NX_Q8NGF1 315 34943 8.49 7 Cell membrane NA PE3 11 +NX_Q8NGF3 324 35839 8.99 7 Cell membrane NA PE2 11 +NX_Q8NGF4 316 35508 8.9 7 Cell membrane NA PE2 11 +NX_Q8NGF6 305 33376 6.83 7 Cell membrane NA PE2 11 +NX_Q8NGF7 314 35091 7.56 7 Cell membrane NA PE3 11 +NX_Q8NGF8 309 34456 7.54 7 Cell membrane NA PE3 11 +NX_Q8NGF9 303 34289 8.75 7 Cell membrane NA PE2 11 +NX_Q8NGG0 315 35481 8.62 7 Cell membrane NA PE3 11 +NX_Q8NGG1 315 35160 8.51 7 Membrane NA PE3 11 +NX_Q8NGG2 359 40696 8.91 7 Cell membrane NA PE2 11 +NX_Q8NGG3 340 38346 8.3 7 Cell membrane NA PE3 11 +NX_Q8NGG4 311 35228 9.03 7 Cell membrane NA PE2 11 +NX_Q8NGG5 319 36581 9.18 7 Cell membrane NA PE2 11 +NX_Q8NGG6 310 34372 8.51 7 Cell membrane NA PE2 11 +NX_Q8NGG7 326 36388 8.69 7 Cell membrane NA PE2 11 +NX_Q8NGG8 313 35305 9.07 7 Cell membrane NA PE3 11 +NX_Q8NGH3 330 37489 9.21 7 Cell membrane NA PE2 11 +NX_Q8NGH5 318 35823 9.03 7 Cell membrane NA PE2 11 +NX_Q8NGH6 319 35227 8.98 7 Cell membrane NA PE5 11 +NX_Q8NGH7 329 36221 8.57 7 Cell membrane NA PE2 11 +NX_Q8NGH8 313 35116 9.03 7 Cell membrane NA PE2 11 +NX_Q8NGH9 312 35480 8.84 7 Cell membrane NA PE3 11 +NX_Q8NGI0 321 35940 8.35 7 Cell membrane NA PE2 11 +NX_Q8NGI1 322 35955 8.99 7 Cell membrane NA PE5 11 +NX_Q8NGI2 321 36080 8.48 7 Cell membrane NA PE2 11 +NX_Q8NGI3 324 36050 8.5 7 Cell membrane NA PE2 11 +NX_Q8NGI4 311 34969 9.06 7 Cell membrane NA PE3 11 +NX_Q8NGI6 311 35300 9.07 7 Cell membrane NA PE2 11 +NX_Q8NGI7 309 34746 8.69 7 Cell membrane NA PE3 11 +NX_Q8NGI8 311 34789 8.83 7 Cell membrane NA PE2 11 +NX_Q8NGI9 324 36016 8.46 7 Cell membrane NA PE2 11 +NX_Q8NGJ0 315 35152 8.53 7 Cell membrane NA PE2 11 +NX_Q8NGJ1 314 35954 8.75 7 Cell membrane NA PE2 11 +NX_Q8NGJ2 320 35592 8.18 7 Cell membrane NA PE2 11 +NX_Q8NGJ3 308 34714 8.64 7 Cell membrane NA PE3 11 +NX_Q8NGJ4 325 36630 8.69 7 Cell membrane NA PE3 11 +NX_Q8NGJ5 315 35369 7.65 7 Cell membrane NA PE3 11 +NX_Q8NGJ6 313 35256 9.15 7 Cell membrane NA PE2 11 +NX_Q8NGJ7 313 35078 9.06 7 Cell membrane NA PE3 11 +NX_Q8NGJ8 323 35313 9.13 7 Cell membrane NA PE2 11 +NX_Q8NGJ9 327 36998 9.45 7 Cell membrane NA PE3 11 +NX_Q8NGK0 314 35012 8.93 7 Cell membrane NA PE2 11 +NX_Q8NGK1 321 36290 8.97 7 Cell membrane NA PE2 11 +NX_Q8NGK2 314 35584 8.82 7 Cell membrane NA PE3 11 +NX_Q8NGK3 314 34926 8.8 7 Cell membrane NA PE2 11 +NX_Q8NGK4 314 35231 8.97 7 Cell membrane NA PE2 11 +NX_Q8NGK5 317 35037 8.99 7 Cell membrane NA PE3 11 +NX_Q8NGK6 324 35386 7.16 7 Cell membrane NA PE3 11 +NX_Q8NGK9 328 37278 8.62 7 Cell membrane NA PE3 11 +NX_Q8NGL0 311 34682 8.46 7 Cell membrane NA PE2 11 +NX_Q8NGL1 313 35348 8.68 7 Cell membrane NA PE2 11 +NX_Q8NGL2 311 34559 8.29 7 Cell membrane NA PE2 11 +NX_Q8NGL3 314 35823 9.01 7 Cell membrane NA PE3 11 +NX_Q8NGL4 314 35447 8.19 7 Cell membrane NA PE3 11 +NX_Q8NGL6 344 38828 9.01 7 Cell membrane NA PE3 11 +NX_Q8NGL7 312 35795 8.76 7 Cell membrane NA PE3 11 +NX_Q8NGL9 310 34991 8.8 7 Cell membrane NA PE3 11 +NX_Q8NGM1 316 35667 8.02 7 Cell membrane NA PE3 11 +NX_Q8NGM8 313 35328 8.54 7 Cell membrane NA PE2 11 +NX_Q8NGM9 314 35019 9.04 7 Cell membrane NA PE2 11 +NX_Q8NGN0 318 35771 8.95 7 Cell membrane NA PE2 11 +NX_Q8NGN1 323 36348 9.39 7 Cell membrane NA PE2 11 +NX_Q8NGN2 331 36501 8.47 7 Cell membrane NA PE2 11 +NX_Q8NGN3 311 34569 8.99 7 Cell membrane NA PE3 11 +NX_Q8NGN4 311 34574 8.57 7 Cell membrane NA PE3 11 +NX_Q8NGN5 311 34519 9.14 7 Cell membrane NA PE2 11 +NX_Q8NGN6 311 34517 8.85 7 Cell membrane NA PE3 11 +NX_Q8NGN7 298 33107 8.33 7 Cell membrane NA PE5 11 +NX_Q8NGN8 299 33593 8.83 7 Cell membrane NA PE5 11 +NX_Q8NGP0 309 34582 8.72 7 Cell membrane NA PE2 11 +NX_Q8NGP2 316 35415 8.61 7 Cell membrane NA PE2 11 +NX_Q8NGP3 310 35093 8.7 7 Cell membrane NA PE3 11 +NX_Q8NGP4 307 35156 9.19 7 Cell membrane NA PE2 11 +NX_Q8NGP6 311 35603 8.78 7 Cell membrane NA PE2 11 +NX_Q8NGP8 315 35608 8.41 7 Cell membrane NA PE3 11 +NX_Q8NGP9 310 34815 7.52 7 Cell membrane NA PE3 11 +NX_Q8NGQ1 327 36344 8.25 7 Cell membrane NA PE3 11 +NX_Q8NGQ2 317 35736 8.32 7 Cell membrane NA PE2 11 +NX_Q8NGQ3 325 36579 7.63 7 Cell membrane NA PE3 11 +NX_Q8NGQ4 319 35602 8.16 7 Cell membrane NA PE2 11 +NX_Q8NGQ5 310 34757 5.72 7 Cell membrane NA PE2 11 +NX_Q8NGQ6 314 34908 9 7 Cell membrane NA PE3 11 +NX_Q8NGR1 328 36494 8.7 7 Cell membrane NA PE2 10 +NX_Q8NGR2 347 39515 9.6 7 Cell membrane NA PE3 9 +NX_Q8NGR3 316 34268 8.1 7 Cell membrane NA PE2 9 +NX_Q8NGR4 320 34991 8.88 7 Cell membrane NA PE2 9 +NX_Q8NGR5 311 35277 9.44 7 Cell membrane NA PE3 9 +NX_Q8NGR6 318 35293 8.48 7 Cell membrane NA PE3 9 +NX_Q8NGR8 309 35083 8.96 7 Cell membrane NA PE2 9 +NX_Q8NGR9 330 36889 7.98 7 Cell membrane NA PE2 9 +NX_Q8NGS0 311 34650 7.92 7 Cell membrane NA PE3 9 +NX_Q8NGS1 313 34959 6.42 7 Cell membrane NA PE2 9 +NX_Q8NGS2 313 35385 6.48 7 Cell membrane NA PE2 9 +NX_Q8NGS3 322 35493 7.96 7 Cell membrane NA PE2 9 +NX_Q8NGS4 319 35646 8.94 7 Cell membrane NA PE2 9 +NX_Q8NGS5 318 35576 9.3 7 Cell membrane NA PE3 9 +NX_Q8NGS6 347 38729 8.83 7 Cell membrane NA PE2 9 +NX_Q8NGS7 320 35294 8.47 7 Cell membrane NA PE3 9 +NX_Q8NGS8 318 35796 8.53 7 Cell membrane NA PE2 9 +NX_Q8NGS9 318 35694 7.58 7 Cell membrane NA PE2 9 +NX_Q8NGT0 318 35854 8.56 7 Cell membrane NA PE3 9 +NX_Q8NGT1 345 38473 8.76 7 Cell membrane NA PE2 9 +NX_Q8NGT2 312 34689 8.87 7 Cell membrane NA PE2 9 +NX_Q8NGT5 310 35330 8.84 6 Cell membrane NA PE2 7 +NX_Q8NGT7 310 35213 9.24 7 Cell membrane NA PE2 7 +NX_Q8NGT9 310 34714 8.9 7 Cell membrane NA PE3 7 +NX_Q8NGU1 263 29546 7.46 6 Cell membrane NA PE5 7 +NX_Q8NGU2 314 35758 8.8 7 Cell membrane NA PE2 7 +NX_Q8NGU4 316 34115 9.61 7 Cell membrane NA PE5 6 +NX_Q8NGU9 434 46353 10.17 7 Cell membrane NA PE2 5 +NX_Q8NGV0 311 34731 8.66 7 Cell membrane NA PE2 5 +NX_Q8NGV5 346 39125 7.53 7 Cell membrane NA PE2 9 +NX_Q8NGV6 325 36713 6.64 7 Cell membrane NA PE2 3 +NX_Q8NGV7 314 35974 7.57 7 Cell membrane NA PE3 3 +NX_Q8NGW1 331 37232 8.53 7 Cell membrane NA PE3 2 +NX_Q8NGW6 343 38362 8.39 7 Cell membrane NA PE2 1 +NX_Q8NGX0 322 36763 9.22 7 Cell membrane NA PE2 1 +NX_Q8NGX1 318 35681 8.7 7 Cell membrane NA PE2 1 +NX_Q8NGX2 323 36101 9.03 7 Cell membrane NA PE3 1 +NX_Q8NGX3 314 35011 9.24 7 Cell membrane NA PE3 1 +NX_Q8NGX5 313 35079 9.33 7 Cell membrane NA PE2 1 +NX_Q8NGX6 335 37486 8.88 7 Cell membrane NA PE3 1 +NX_Q8NGX8 325 36636 8.38 7 Cell membrane NA PE3 1 +NX_Q8NGX9 317 35831 8.77 7 Cell membrane NA PE3 1 +NX_Q8NGY0 326 36446 8.51 7 Cell membrane NA PE3 1 +NX_Q8NGY1 313 34609 8.48 7 Cell membrane NA PE3 1 +NX_Q8NGY2 324 36513 8.21 7 Cell membrane NA PE2 1 +NX_Q8NGY3 331 37352 6.97 7 Cell membrane NA PE3 1 +NX_Q8NGY5 312 34869 8.63 7 Cell membrane NA PE2 1 +NX_Q8NGY6 317 35692 9.08 7 Cell membrane NA PE3 1 +NX_Q8NGY7 276 31021 8.87 7 Cell membrane NA PE5 1 +NX_Q8NGY9 312 35444 8.86 7 Cell membrane NA PE2 1 +NX_Q8NGZ0 328 37063 9.12 7 Cell membrane NA PE3 1 +NX_Q8NGZ2 314 34861 8.77 7 Cell membrane NA PE3 1 +NX_Q8NGZ3 307 34672 8.52 7 Cell membrane NA PE2 1 +NX_Q8NGZ4 309 34506 8.04 7 Cell membrane NA PE2 1 +NX_Q8NGZ5 317 35559 9.44 7 Cell membrane NA PE3 1 +NX_Q8NGZ6 308 33961 8.9 7 Cell membrane NA PE2 1 +NX_Q8NGZ9 312 35403 8.81 7 Cell membrane NA PE2 1 +NX_Q8NH00 348 39414 7.2 7 Cell membrane NA PE3 1 +NX_Q8NH01 316 34797 8.18 7 Cell membrane NA PE2 1 +NX_Q8NH02 315 35595 8.59 7 Cell membrane NA PE3 1 +NX_Q8NH03 318 35598 8.42 7 Cell membrane NA PE2 1 +NX_Q8NH04 317 35514 8.47 7 Cell membrane NA PE3 1 +NX_Q8NH05 313 35491 7.83 7 Cell membrane NA PE3 14 +NX_Q8NH06 330 36638 8.32 7 Cell membrane NA PE2 17 +NX_Q8NH07 326 36531 8.35 7 Cell membrane NA PE3 14 +NX_Q8NH08 325 35157 9.34 7 Cell membrane NA PE3 7 +NX_Q8NH09 359 39645 8.84 7 Cell membrane NA PE3 12 +NX_Q8NH10 309 35088 7.97 7 Cell membrane NA PE3 11 +NX_Q8NH16 312 35495 8.94 7 Cell membrane NA PE2 1 +NX_Q8NH18 312 34808 8.3 7 Cell membrane NA PE3 11 +NX_Q8NH19 301 34105 9.07 7 Cell membrane NA PE2 11 +NX_Q8NH21 305 34330 8.53 7 Cell membrane NA PE3 1 +NX_Q8NH37 302 33726 6.68 7 Cell membrane NA PE2 11 +NX_Q8NH40 331 36127 8.66 7 Cell membrane NA PE3 14 +NX_Q8NH41 348 39088 9.1 7 Cell membrane NA PE2 14 +NX_Q8NH42 304 34261 9.04 7 Cell membrane NA PE3 14 +NX_Q8NH43 312 35264 9.03 7 Cell membrane NA PE3 14 +NX_Q8NH48 314 35258 6.48 7 Cell membrane NA PE3 11 +NX_Q8NH49 305 34222 8.74 7 Cell membrane NA PE3 11 +NX_Q8NH50 307 35190 6.48 7 Cell membrane NA PE3 11 +NX_Q8NH51 312 35463 8.02 7 Cell membrane NA PE3 11 +NX_Q8NH53 320 35785 8.57 7 Cell membrane NA PE3 11 +NX_Q8NH54 315 35611 8.82 7 Cell membrane NA PE3 11 +NX_Q8NH55 327 36851 9.12 7 Cell membrane NA PE3 11 +NX_Q8NH56 324 36212 8.88 7 Cell membrane NA PE2 11 +NX_Q8NH57 321 34890 8.69 7 Cell membrane NA PE5 11 +NX_Q8NH59 317 35747 8.69 7 Cell membrane NA PE2 11 +NX_Q8NH60 311 35091 8.82 7 Cell membrane NA PE3 11 +NX_Q8NH61 342 38518 9.06 7 Cell membrane NA PE2 11 +NX_Q8NH63 302 33766 8.97 7 Cell membrane NA PE3 11 +NX_Q8NH64 312 35132 9.12 7 Cell membrane NA PE2 11 +NX_Q8NH67 350 38353 8.42 7 Cell membrane NA PE2 11 +NX_Q8NH69 310 35167 6.57 7 Cell membrane NA PE3 11 +NX_Q8NH70 328 36922 8.58 7 Cell membrane NA PE3 11 +NX_Q8NH72 309 34558 8.45 7 Cell membrane NA PE2 11 +NX_Q8NH73 311 35172 8.53 7 Cell membrane NA PE3 11 +NX_Q8NH74 314 35318 8.37 7 Cell membrane NA PE3 11 +NX_Q8NH76 319 35454 8.01 7 Cell membrane NA PE2 11 +NX_Q8NH79 312 34727 9.1 7 Cell membrane NA PE2 11 +NX_Q8NH80 312 34812 8.31 7 Cell membrane NA PE5 11 +NX_Q8NH81 332 36823 7.53 7 Cell membrane NA PE3 11 +NX_Q8NH83 315 34915 8.41 7 Cell membrane NA PE3 11 +NX_Q8NH85 324 36708 8.61 7 Cell membrane NA PE3 11 +NX_Q8NH87 305 34071 8.14 7 Cell membrane NA PE3 11 +NX_Q8NH89 298 33542 7.55 7 Cell membrane NA PE5 11 +NX_Q8NH90 309 34627 8.42 7 Cell membrane NA PE2 11 +NX_Q8NH92 325 36707 8.79 7 Cell membrane NA PE3 11 +NX_Q8NH93 324 36633 9.36 7 Cell membrane NA PE2 9 +NX_Q8NH94 360 41046 9.01 7 Cell membrane NA PE3 9 +NX_Q8NH95 151 16702 8.4 3 Cell membrane NA PE5 9 +NX_Q8NHA4 323 36588 9.28 7 Cell membrane NA PE2 7 +NX_Q8NHA6 318 35283 8.66 7 Cell membrane NA PE5 6 +NX_Q8NHA8 337 36933 7.95 7 Cell membrane NA PE3 6 +NX_Q8NHB1 315 34857 8.92 7 Cell membrane NA PE3 5 +NX_Q8NHB7 308 35185 8.39 7 Cell membrane NA PE2 3 +NX_Q8NHB8 316 35763 8.37 7 Cell membrane NA PE2 3 +NX_Q8NHC4 309 34401 8.65 7 Cell membrane NA PE2 1 +NX_Q8NHC5 309 34307 8.41 7 Cell membrane NA PE3 1 +NX_Q8NHC6 308 34709 8.72 7 Cell membrane NA PE5 1 +NX_Q8NHC7 312 34815 8.71 7 Cell membrane NA PE3 1 +NX_Q8NHC8 308 34765 8.38 7 Cell membrane NA PE3 1 +NX_Q8NHE4 81 9184 8.8 2 Membrane NA PE2 7 +NX_Q8NHG7 77 8443 9.06 0 Golgi apparatus membrane;Smooth endoplasmic reticulum membrane;Cell membrane;Membrane NA PE1 11 +NX_Q8NHG8 242 24115 6.64 0 Endosome membrane;Lysosome membrane;Presynaptic cell membrane NA PE1 7 +NX_Q8NHH1 800 87612 9.08 0 Cilium basal body NA PE1 9 +NX_Q8NHH9 583 66229 5.3 2 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 2 +NX_Q8NHJ6 448 49356 6.19 1 Cell membrane NA PE1 19 +NX_Q8NHK3 375 40695 8.08 1 Cell membrane NA PE3 19 +NX_Q8NHL6 650 70819 5.69 1 Cell membrane;Secreted NA PE1 19 +NX_Q8NHM4 247 26537 5.64 0 Secreted NA PE5 7 +NX_Q8NHM5 1336 152615 8.85 0 Nucleoplasm;Nucleolus NA PE1 12 +NX_Q8NHP1 331 36970 6.39 0 NA NA PE1 1 +NX_Q8NHP6 518 59746 5.7 1 Endoplasmic reticulum;Cell membrane NA PE1 X +NX_Q8NHP7 514 58335 5.5 0 Cytoplasm NA PE1 15 +NX_Q8NHP8 589 65472 6.34 0 Lysosome lumen NA PE1 12 +NX_Q8NHQ1 597 69752 5.52 0 Cytosol;Nucleoplasm;Centrosome NA PE1 3 +NX_Q8NHQ8 419 48327 6.21 0 Cytosol;Mitochondrion NA PE1 12 +NX_Q8NHQ9 600 68547 9.32 0 Cytosol;Nucleolus;Nucleus NA PE1 12 +NX_Q8NHR7 220 25316 7.12 0 Nucleus;Nucleolus;Nucleus inner membrane;Centrosome;Telomere NA PE1 15 +NX_Q8NHR9 129 14319 8.76 0 Cytoskeleton NA PE1 2 +NX_Q8NHS0 232 25686 6 0 NA NA PE1 3 +NX_Q8NHS1 167 17984 7.56 4 Nucleoplasm;Membrane NA PE2 19 +NX_Q8NHS2 421 47305 6.56 0 Cytoplasm NA PE1 8 +NX_Q8NHS3 518 57628 6.41 12 Nucleoplasm;Cytoplasmic vesicle;Endosome;Lysosome membrane Macular dystrophy with central cone involvement;Ceroid lipofuscinosis, neuronal, 7 PE1 4 +NX_Q8NHS4 586 67250 6.09 0 Nucleolus;Centrosome NA PE1 2 +NX_Q8NHS9 363 41318 9.45 0 Chromosome NA PE1 17 +NX_Q8NHU0 189 21331 9.79 0 NA NA PE1 X +NX_Q8NHU2 1237 141349 5.76 0 Cilium axoneme NA PE1 20 +NX_Q8NHU3 365 42280 9.01 6 Golgi apparatus membrane;Cell membrane NA PE1 4 +NX_Q8NHU6 1098 123586 6.84 0 Cytosol;Nucleoplasm;Cytoplasm Cataract 36 PE1 9 +NX_Q8NHV1 300 34509 6.1 0 Golgi apparatus;Cytosol;Cytoplasm;Lipid droplet;Endoplasmic reticulum;Cytoplasmic vesicle NA PE1 7 +NX_Q8NHV4 660 71966 8.15 0 Centrosome NA PE1 12 +NX_Q8NHV5 167 18250 8.6 4 Cilium membrane;Cell membrane NA PE2 16 +NX_Q8NHV9 184 20542 5.77 0 Nucleus NA PE1 X +NX_Q8NHW3 353 36982 7.49 0 Nucleus Insulinomatosis and diabetes mellitus PE1 8 +NX_Q8NHW4 92 10166 5.13 0 Secreted NA PE1 17 +NX_Q8NHW5 317 34364 5.41 0 NA NA PE5 2 +NX_Q8NHW6 89 9939 4.47 0 Secreted NA PE2 2 +NX_Q8NHX4 192 20901 10.11 0 NA NA PE1 2 +NX_Q8NHX9 752 85243 6.65 12 Lysosome membrane;Nucleolus NA PE1 11 +NX_Q8NHY0 566 63258 8.79 1 Golgi apparatus membrane NA PE1 17 +NX_Q8NHY2 731 80474 6.41 0 Cytoplasm;Nucleus speckle NA PE1 1 +NX_Q8NHY3 880 96520 9.3 0 Cytoskeleton NA PE1 17 +NX_Q8NHY5 278 30982 9.49 0 Nucleoplasm;Cytosol NA PE1 6 +NX_Q8NHY6 868 98705 9.44 0 Cytosol;Nucleoplasm;Nucleus NA PE1 19 +NX_Q8NHZ7 208 22994 11.53 0 NA NA PE2 19 +NX_Q8NHZ8 85 9777 6.32 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q8NI08 942 106162 5.43 0 Cytoplasm;Nucleus;Golgi apparatus NA PE1 6 +NX_Q8NI17 732 82954 6.75 1 Nucleoplasm;Cytoplasmic vesicle;Axon;Cell membrane;Presynaptic cell membrane Amyloidosis, primary localized cutaneous, 2 PE1 5 +NX_Q8NI22 146 16390 4.51 0 Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus;Endoplasmic reticulum Factor V and factor VIII combined deficiency 2 PE1 2 +NX_Q8NI27 1593 182775 8.67 0 Nucleoplasm;Nucleus speckle;Nucleus Mental retardation, X-linked 12 PE1 X +NX_Q8NI28 216 22304 11.7 1 Membrane NA PE5 7 +NX_Q8NI29 283 31623 8.92 0 Nucleoplasm NA PE1 19 +NX_Q8NI32 183 20656 7.97 0 Cell membrane NA PE1 2 +NX_Q8NI35 1801 196368 4.84 0 Apical cell membrane;Cytosol;Cell membrane;Microtubule organizing center;Perinuclear region;Cell junction;Tight junction NA PE1 1 +NX_Q8NI36 951 105322 7.33 0 Nucleolus Glaucoma 1, open angle, G PE1 5 +NX_Q8NI37 304 32646 4.99 0 Cytosol;Cell membrane NA PE1 12 +NX_Q8NI38 313 33481 6.9 0 Mitochondrion;Nucleus NA PE1 19 +NX_Q8NI51 663 75747 8.58 0 Cytoplasm;Nucleus NA PE1 20 +NX_Q8NI60 647 71950 6.51 1 Mitochondrion;Membrane Coenzyme Q10 deficiency, primary, 4 PE1 1 +NX_Q8NI77 898 102281 9.09 0 Ruffle;Cytoskeleton;Nucleus;Centrosome;Cytoplasm NA PE1 11 +NX_Q8NI99 470 51694 8.78 0 Secreted NA PE1 19 +NX_Q8TA86 221 26107 9.8 0 Cytosol;Nucleus Retinitis pigmentosa 9 PE1 7 +NX_Q8TA94 476 55434 9.34 0 Nucleus NA PE1 19 +NX_Q8TAA1 199 22427 6.1 0 Secreted NA PE2 14 +NX_Q8TAA3 256 28530 9.07 0 Cytoplasm;Nucleus NA PE1 18 +NX_Q8TAA5 225 25431 7.63 0 Mitochondrion matrix;Mitochondrion NA PE1 5 +NX_Q8TAA9 524 59975 8.94 4 Cell membrane Neural tube defects;Sacral defect with anterior meningocele PE1 1 +NX_Q8TAB3 1148 126253 5.19 1 Cytosol;Cell membrane Epileptic encephalopathy, early infantile, 9 PE1 X +NX_Q8TAB5 229 24968 5.17 0 Nucleoplasm;Cytosol NA PE1 1 +NX_Q8TAB7 109 13192 9.51 0 NA NA PE5 8 +NX_Q8TAC1 157 17762 6.37 0 Nucleoplasm NA PE1 5 +NX_Q8TAC2 188 20756 6.91 0 Cytosol NA PE1 19 +NX_Q8TAC9 235 26104 8.8 4 Synaptic vesicle membrane;trans-Golgi network membrane;Golgi apparatus;Cell membrane;Golgi apparatus membrane;Recycling endosome membrane NA PE1 15 +NX_Q8TAD2 202 21893 9.25 0 Secreted NA PE1 13 +NX_Q8TAD4 765 84047 6.87 16 Nucleus;trans-Golgi network membrane;Golgi apparatus NA PE1 5 +NX_Q8TAD7 63 6407 6.11 0 Cytoplasmic vesicle NA PE1 12 +NX_Q8TAD8 396 45778 10 0 Cytosol;Nucleoplasm;Nucleus Psychomotor retardation, epilepsy, and craniofacial dysmorphism PE1 1 +NX_Q8TAE6 165 17843 5.09 0 Cytoplasm;Membrane NA PE1 6 +NX_Q8TAE7 436 49593 8.6 6 Cytosol;Cytoplasm;Cell membrane NA PE1 2 +NX_Q8TAE8 222 25384 10.03 0 Mitochondrion;Nucleus NA PE1 19 +NX_Q8TAF3 677 76210 6.59 0 Cytoplasmic vesicle;Cytoplasm;Late endosome;Nucleus;Lysosome NA PE1 3 +NX_Q8TAF5 88 10021 11.38 0 NA NA PE5 1 +NX_Q8TAF7 563 66214 8.61 0 Nucleolus;Nucleus;Golgi apparatus NA PE1 19 +NX_Q8TAF8 219 24201 6.69 4 Cell membrane Deafness, autosomal recessive, 67 PE1 6 +NX_Q8TAG5 236 25833 8.39 0 Secreted NA PE1 7 +NX_Q8TAG6 207 22584 10.05 0 Nucleus speckle;Nucleus;Cell membrane;Cytoplasm NA PE1 8 +NX_Q8TAG9 804 93722 5.82 0 Nucleoplasm;Cytoplasm;Midbody ring;Cytoplasmic vesicle;Perinuclear region;Growth cone NA PE1 10 +NX_Q8TAI1 123 13402 12.04 0 NA NA PE5 18 +NX_Q8TAI7 183 20682 6.24 0 Cytoplasm;Nucleus;Centrosome;Endomembrane system NA PE1 12 +NX_Q8TAK5 448 48650 5.15 0 Nucleoplasm;Cytosol;Nucleus NA PE1 1 +NX_Q8TAK6 271 27905 9.71 0 Nucleus NA PE1 21 +NX_Q8TAL5 461 52222 9.01 0 Cytosol NA PE1 9 +NX_Q8TAL6 211 24273 5.3 0 Endoplasmic reticulum;Golgi apparatus;Secreted NA PE1 11 +NX_Q8TAM1 723 80838 7.95 0 Nucleoplasm;Cilium Bardet-Biedl syndrome 10 PE1 12 +NX_Q8TAM2 541 61534 6.33 0 Cytoplasm;Centriolar satellite;Centrosome;Cilium;Cilium membrane Bardet-Biedl syndrome 8;Retinitis pigmentosa 51 PE1 14 +NX_Q8TAM6 284 32783 4.75 0 Cytoskeleton NA PE1 2 +NX_Q8TAP4 145 16594 8.6 0 NA NA PE1 12 +NX_Q8TAP6 659 74413 6.31 0 Centriole;Centrosome NA PE1 18 +NX_Q8TAP8 253 27953 8.9 0 Nucleoplasm NA PE1 7 +NX_Q8TAP9 179 19147 10.23 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Centrosome Trichothiodystrophy 4, non-photosensitive PE1 7 +NX_Q8TAQ2 1214 132879 5.49 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q8TAQ5 688 80247 8.94 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8TAQ9 357 40503 7.68 1 Nucleus inner membrane;Nucleus envelope;Golgi apparatus;Membrane NA PE1 7 +NX_Q8TAS1 419 46546 5.59 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 1 +NX_Q8TAT2 258 27590 9.96 0 Secreted NA PE1 10 +NX_Q8TAT5 605 67769 9.23 0 Nucleoplasm;Nucleus NA PE1 4 +NX_Q8TAT6 608 68120 5.94 0 Cytosol;Nucleoplasm;Nucleus;Endoplasmic reticulum NA PE1 17 +NX_Q8TAT8 98 10982 11.47 0 NA NA PE5 11 +NX_Q8TAU0 364 38406 7.19 0 Cytosol;Nucleolus;Nucleus NA PE1 10 +NX_Q8TAU3 575 65733 9.29 0 Nucleus NA PE1 19 +NX_Q8TAV0 307 35049 9.33 0 NA NA PE1 1 +NX_Q8TAV3 490 53844 9.03 0 Endoplasmic reticulum lumen;Cell membrane NA PE1 7 +NX_Q8TAV4 291 32135 8.83 1 Cell membrane NA PE1 13 +NX_Q8TAV5 145 15559 7.73 0 Cytosol;Secreted NA PE2 11 +NX_Q8TAW3 534 60972 9.06 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8TAX0 266 29611 9.77 0 Nucleus NA PE1 2 +NX_Q8TAX7 377 39159 8.99 0 Secreted Asthma PE1 4 +NX_Q8TAX9 411 46786 5.15 0 Cytosol;Cytoplasm;Cell membrane NA PE1 17 +NX_Q8TAY7 271 28710 10.08 0 NA NA PE2 1 +NX_Q8TAZ6 248 27496 9.91 3 Membrane NA PE1 16 +NX_Q8TB03 319 36670 5.92 0 Cytosol NA PE1 X +NX_Q8TB05 177 18954 6.13 0 Cytosol;Nucleus;Cell junction NA PE1 16 +NX_Q8TB22 786 87899 7.08 0 Nucleoplasm;Secreted NA PE1 17 +NX_Q8TB24 985 107854 6.17 0 Cytoplasmic vesicle;Cytoplasm;Early endosome NA PE1 14 +NX_Q8TB33 94 10359 11.18 0 NA NA PE4 X +NX_Q8TB36 358 41346 8.48 2 Cytosol;Cytoplasm;Mitochondrion;Mitochondrion outer membrane Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease, recessive, intermediate type, A;Charcot-Marie-Tooth disease 2K;Charcot-Marie-Tooth disease 4A PE1 8 +NX_Q8TB37 319 34083 9.17 0 Mitochondrion Mitochondrial complex I deficiency PE1 14 +NX_Q8TB40 342 38794 7.13 0 Nucleus NA PE1 14 +NX_Q8TB45 409 46294 8.29 0 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA PE1 8 +NX_Q8TB52 745 82304 5.21 0 Cytoskeleton NA PE1 6 +NX_Q8TB61 432 47515 9.32 9 Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 6 +NX_Q8TB68 274 30930 8.91 1 Synapse;Cytosol;Nucleoplasm;Cell membrane;Dendrite;Perinuclear region;Postsynaptic cell membrane;Nucleus NA PE1 5 +NX_Q8TB69 540 63020 9.48 0 Nucleolus;Nucleus NA PE1 18 +NX_Q8TB72 1066 114216 6.61 0 Cytosol;Cytoplasm;Perinuclear region;Cytoplasmic granule NA PE1 2 +NX_Q8TB73 568 64673 9.07 0 Cytoplasmic vesicle;Secreted NA PE1 4 +NX_Q8TB92 370 39514 6.12 0 Endoplasmic reticulum membrane;Cytosol NA PE1 6 +NX_Q8TB96 612 68108 5.15 1 Cytoskeleton;Membrane;Secreted NA PE1 16 +NX_Q8TBA6 731 83024 5.6 1 Golgi apparatus membrane;Golgi apparatus NA PE1 14 +NX_Q8TBB0 222 25691 8.99 0 Nucleus;Centrosome NA PE1 4 +NX_Q8TBB1 728 80629 6.67 0 Cytosol;Cytoplasm;Cell junction NA PE1 4 +NX_Q8TBB5 520 57892 5.52 0 Nucleolus NA PE1 16 +NX_Q8TBB6 771 84052 5.13 15 Lysosome membrane Retinitis pigmentosa 68 PE1 3 +NX_Q8TBC3 707 76344 8.58 0 Cell junction;Lysosome NA PE1 19 +NX_Q8TBC4 463 51852 5.3 0 Cytosol;Nucleoplasm;Nucleus;Centrosome;Cell membrane NA PE1 3 +NX_Q8TBC5 510 54804 4.76 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8TBE0 780 84652 9.27 0 Nucleoplasm;Nucleus;Chromosome NA PE1 15 +NX_Q8TBE1 160 18976 6.17 3 Postsynaptic cell membrane NA PE2 1 +NX_Q8TBE3 224 25275 5.33 1 Membrane NA PE2 5 +NX_Q8TBE7 412 46422 6.99 10 Endosome;Cell membrane NA PE1 3 +NX_Q8TBE9 248 27813 6.01 0 Nucleus membrane NA PE1 20 +NX_Q8TBF2 198 21223 6.2 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 1 +NX_Q8TBF4 217 24592 8.69 0 Nucleoplasm NA PE1 12 +NX_Q8TBF5 258 28788 5.91 1 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane NA PE1 3 +NX_Q8TBF8 368 42392 8.98 0 Cytosol;Nucleoplasm NA PE1 15 +NX_Q8TBG4 499 55671 8.32 0 Mitochondrion;Nucleus NA PE1 4 +NX_Q8TBG9 265 29166 6.07 4 Synaptosome;Synaptic vesicle membrane;Golgi apparatus;Cell membrane NA PE1 3 +NX_Q8TBH0 407 44379 9.33 0 Cytosol;Nucleoplasm NA PE1 19 +NX_Q8TBJ4 325 35795 7.04 6 Nucleoplasm;Membrane NA PE1 9 +NX_Q8TBJ5 459 48811 9.52 0 Nucleus NA PE2 3 +NX_Q8TBK2 473 53189 5.24 0 Cytosol;Nucleus NA PE1 16 +NX_Q8TBK6 192 20967 8.69 0 Nucleolus;Nucleus NA PE1 5 +NX_Q8TBM7 123 14243 9.7 3 Nucleoplasm;Cell membrane;Membrane NA PE1 10 +NX_Q8TBM8 379 42516 8.79 1 Endoplasmic reticulum membrane;Nucleus membrane NA PE1 4 +NX_Q8TBN0 382 42637 6.07 0 Cytosol NA PE1 11 +NX_Q8TBP0 767 86372 5.55 0 Cytoskeleton NA PE1 17 +NX_Q8TBP5 190 19954 5.92 1 Cytosol;Golgi apparatus;Membrane NA PE1 5 +NX_Q8TBP6 338 38125 9.43 6 Mitochondrion inner membrane NA PE1 7 +NX_Q8TBQ9 72 8060 9.26 1 Golgi apparatus membrane NA PE1 5 +NX_Q8TBR4 150 17020 5.92 0 NA NA PE5 7 +NX_Q8TBR5 109 12399 12.01 0 NA NA PE5 19 +NX_Q8TBR7 257 29383 9.57 7 Cell membrane NA PE1 17 +NX_Q8TBX8 421 47300 6.36 0 Cytoplasmic vesicle;Cytoplasm;Membrane NA PE1 12 +NX_Q8TBY0 533 60023 7.56 0 NA NA PE1 4 +NX_Q8TBY8 1022 119079 5.94 0 Endoplasmic reticulum NA PE1 16 +NX_Q8TBY9 1149 129952 4.99 0 Cytosol;Golgi apparatus;Cell membrane;Cilium axoneme NA PE1 12 +NX_Q8TBZ0 833 96726 5.88 0 Nucleus NA PE1 4 +NX_Q8TBZ2 947 108153 7.13 0 Cytoplasmic vesicle;Cytoplasm;Membrane NA PE1 17 +NX_Q8TBZ3 569 62893 8.26 0 NA NA PE1 14 +NX_Q8TBZ5 544 62920 9.02 0 Nucleus NA PE1 3 +NX_Q8TBZ6 339 39719 7.29 0 Cytosol;Nucleoplasm;Cytoskeleton;Nucleolus;Nucleus Microcephaly, short stature, and impaired glucose metabolism 1 PE1 4 +NX_Q8TBZ8 553 63735 8.99 0 Nucleus;Golgi apparatus NA PE1 19 +NX_Q8TBZ9 253 29483 7.21 0 Mitochondrion;Nucleoplasm NA PE1 7 +NX_Q8TC05 714 80735 9.16 0 Centriole;Cytosol;Nucleus;Centrosome NA PE1 12 +NX_Q8TC07 691 79491 5.44 0 Mitochondrion;Cytoplasm;Cytosol NA PE1 12 +NX_Q8TC12 318 35386 9.05 1 Endoplasmic reticulum membrane Retinal dystrophy, juvenile cataracts, and short stature syndrome PE1 14 +NX_Q8TC17 118 13442 7.89 0 NA NA PE2 17 +NX_Q8TC20 777 90250 5.21 0 NA NA PE1 6 +NX_Q8TC21 504 58513 9.19 0 Mitochondrion;Nucleolus;Nucleus NA PE1 8 +NX_Q8TC26 289 31469 7.06 6 Synaptic vesicle membrane;Early endosome membrane NA PE1 2 +NX_Q8TC27 787 87948 5.39 1 Cytoplasmic vesicle;Nucleus;Membrane NA PE1 8 +NX_Q8TC29 256 29454 9.34 0 Flagellum NA PE1 10 +NX_Q8TC36 379 43081 8.61 1 Nucleus inner membrane;Golgi apparatus Spermatogenic failure 16 PE1 20 +NX_Q8TC41 542 59372 7.65 1 Membrane NA PE1 6 +NX_Q8TC44 478 53668 6.79 0 Centriole;Centrosome;Spindle pole;Cilium basal body Cone-rod dystrophy 20 PE1 12 +NX_Q8TC56 605 64756 9.52 0 Nucleus NA PE1 5 +NX_Q8TC57 530 59386 6.4 0 Mitochondrion;Cytoplasm;Nucleolus NA PE1 2 +NX_Q8TC59 973 109849 9.16 0 Cytoplasm NA PE1 8 +NX_Q8TC71 538 61109 8.93 0 Cytoplasm;Mitochondrion outer membrane NA PE1 4 +NX_Q8TC76 370 40728 9.45 0 Mitochondrion;Cytoplasm;Cytosol;Centrosome NA PE1 8 +NX_Q8TC84 345 38341 8.93 0 Cytosol;Nucleoplasm;Nucleus;Cilium;Cilium basal body NA PE1 10 +NX_Q8TC90 406 46482 4.64 0 NA NA PE1 12 +NX_Q8TC92 643 73348 5.4 0 Extracellular space;Cell membrane NA PE1 13 +NX_Q8TC94 416 45627 6.61 0 Cytoskeleton NA PE1 19 +NX_Q8TC99 324 35921 5.01 0 NA NA PE1 17 +NX_Q8TCA0 184 20509 6.11 0 Nucleoplasm;Cytosol NA PE1 10 +NX_Q8TCB0 444 50491 6.44 0 Nucleoplasm;Cytoplasm NA PE1 1 +NX_Q8TCB6 317 35271 8.71 7 Cell membrane NA PE2 11 +NX_Q8TCB7 284 33251 5.85 0 Cytoplasmic vesicle NA PE1 3 +NX_Q8TCC3 161 18546 10.01 0 Mitochondrion NA PE1 2 +NX_Q8TCC7 542 59856 9.07 11 Basolateral cell membrane NA PE1 11 +NX_Q8TCD1 76 8669 9.24 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 18 +NX_Q8TCD5 201 23383 6.18 0 Cytosol;Cytoplasm NA PE1 17 +NX_Q8TCD6 241 27769 6.31 0 Cytoplasmic vesicle NA PE1 2 +NX_Q8TCE6 357 40513 6.15 0 NA NA PE1 10 +NX_Q8TCE9 139 16094 6.4 0 Nucleus NA PE1 19 +NX_Q8TCF1 268 30787 7.14 0 Cytosol;Stress granule;Centrosome NA PE1 8 +NX_Q8TCG1 905 102185 5.85 1 Cytosol;Cytoplasm;Cell membrane;Membrane NA PE1 3 +NX_Q8TCG2 481 54744 5.71 0 Cytosol;Cytoplasm;Membrane NA PE1 4 +NX_Q8TCG5 803 90989 8.33 2 Synapse;Endoplasmic reticulum;Mitochondrion outer membrane;Axon;Dendrite;Centrosome Spastic paraplegia 73, autosomal dominant PE1 19 +NX_Q8TCH9 128 14227 7.15 0 NA NA PE2 22 +NX_Q8TCI5 191 21973 9.91 0 Cytoplasmic vesicle;Cytoplasm;trans-Golgi network NA PE1 1 +NX_Q8TCJ0 367 43313 8.35 0 Nucleus NA PE1 8 +NX_Q8TCJ2 826 93674 9.04 13 Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1X PE1 3 +NX_Q8TCN5 953 105767 5.47 0 Cytosol;Nucleolus;Nucleus NA PE1 19 +NX_Q8TCP9 573 66276 5.82 1 Membrane NA PE1 7 +NX_Q8TCQ1 289 32308 8.76 2 Lysosome membrane;trans-Golgi network membrane;Early endosome membrane;Cell membrane;Late endosome membrane;Mitochondrion;Cytoplasmic vesicle membrane NA PE1 4 +NX_Q8TCS8 783 85951 7.87 0 Mitochondrion;Cytoplasm;Mitochondrion intermembrane space Combined oxidative phosphorylation deficiency 13;Deafness, autosomal recessive, 70 PE1 2 +NX_Q8TCT0 537 59977 8.54 0 Cytoplasmic vesicle;Cytoplasm;Membrane NA PE1 22 +NX_Q8TCT1 267 29713 7.64 0 Cytoskeleton;Cell membrane NA PE1 17 +NX_Q8TCT6 384 42261 8.64 9 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus;Cell membrane;Membrane NA PE1 12 +NX_Q8TCT7 592 64644 8.67 9 Lysosome membrane;Nucleoplasm;Cell membrane;Endosome membrane;Golgi apparatus membrane;Membrane;Centrosome NA PE1 19 +NX_Q8TCT8 520 58143 8.65 9 Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane;Membrane NA PE1 15 +NX_Q8TCT9 377 41488 6 9 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum;Membrane NA PE1 20 +NX_Q8TCU3 470 52114 9.08 12 Membrane NA PE2 8 +NX_Q8TCU4 4168 461062 5.87 0 Cytosol;Centrosome;Cytoplasm;Spindle pole;Cilium basal body Alstrom syndrome PE1 2 +NX_Q8TCU5 1115 125465 7.4 3 Postsynaptic density;Postsynaptic cell membrane;Cell membrane NA PE1 9 +NX_Q8TCU6 1659 186203 6.03 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Cell membrane NA PE1 20 +NX_Q8TCV5 224 24238 8.4 0 Secreted NA PE1 20 +NX_Q8TCW7 415 45530 7.92 1 Nucleoplasm;Cytoplasmic vesicle membrane;Extracellular matrix NA PE2 3 +NX_Q8TCW9 393 44770 8.68 7 Cell membrane NA PE1 2 +NX_Q8TCX1 351 39625 7.1 0 Cytosol;Cytoplasm;Centrosome;Cilium axoneme;Cilium;Cilium basal body Short-rib thoracic dysplasia 15 with polydactyly PE1 2 +NX_Q8TCX5 670 73590 7.3 0 Nucleoplasm NA PE1 8 +NX_Q8TCY0 68 7880 9.49 1 Membrane NA PE2 21 +NX_Q8TCY5 172 19136 7.75 1 Endoplasmic reticulum membrane;Cell membrane Glucocorticoid deficiency 2 PE1 21 +NX_Q8TCY9 931 104987 6 0 Cytosol;Cytoplasm;Nucleus NA PE1 7 +NX_Q8TCZ2 262 27986 4.92 1 Golgi apparatus;Cell junction;Cell membrane NA PE1 X +NX_Q8TCZ7 52 5991 8.8 0 NA NA PE5 21 +NX_Q8TD06 166 19171 7.76 0 Cytoplasmic vesicle;Endoplasmic reticulum NA PE1 7 +NX_Q8TD07 263 30122 8.45 1 Cytosol;Focal adhesion;Secreted;Membrane NA PE1 6 +NX_Q8TD08 544 59832 9.17 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Centriole;Cytosol;Nucleus;Autophagosome;Spindle;Cell junction;Tight junction;Cilium basal body NA PE1 8 +NX_Q8TD10 442 51537 5.55 0 Cytosol NA PE1 14 +NX_Q8TD16 824 93533 5.35 0 Golgi apparatus;Cytosol;Cytoplasm;Nuclear pore complex;Nucleus envelope;Cell membrane;Cytoskeleton Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant PE1 9 +NX_Q8TD17 642 71311 6.2 0 Mitochondrion;Nucleoplasm;Nucleus NA PE1 7 +NX_Q8TD19 979 107168 5.51 0 Mitochondrion;Cytoplasm;Nucleus Arthrogryposis, Perthes disease, and upward gaze palsy;Nevus comedonicus;Lethal congenital contracture syndrome 10 PE1 14 +NX_Q8TD20 617 66966 8.66 12 Perinuclear region;Cell junction;Cell membrane;Endomembrane system NA PE1 6 +NX_Q8TD22 340 37124 9.4 4 Mitochondrion;Nucleoplasm;Mitochondrion membrane NA PE1 2 +NX_Q8TD23 568 66299 9.11 0 Nucleus NA PE1 19 +NX_Q8TD26 2715 305412 5.9 0 Nucleoplasm;Nucleus NA PE1 20 +NX_Q8TD30 523 57904 7.85 0 Mitochondrion Mental retardation, autosomal recessive 49 PE1 16 +NX_Q8TD31 782 88671 5.76 0 Cytosol;Cytoplasm;Nucleus NA PE1 6 +NX_Q8TD33 95 10414 4.55 0 Secreted NA PE3 11 +NX_Q8TD35 194 21508 10.61 0 Nucleus NA PE1 20 +NX_Q8TD43 1214 134301 8.49 6 Nucleoplasm;Cell membrane;Endoplasmic reticulum;Golgi apparatus Progressive familial heart block 1B PE1 19 +NX_Q8TD46 325 36620 8.19 1 Cell membrane;Secreted NA PE1 3 +NX_Q8TD47 263 29295 10.1 0 NA NA PE2 Y +NX_Q8TD55 490 53350 5.34 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 15 +NX_Q8TD57 4116 470771 6.04 0 Cytoskeleton;Cilium axoneme;Nucleus membrane NA PE1 16 +NX_Q8TD84 2053 224463 8.43 1 Synapse;Cell membrane NA PE1 11 +NX_Q8TD86 181 20690 4.47 0 Cytoplasm;Nucleus NA PE2 1 +NX_Q8TD90 523 60378 5 0 NA NA PE2 X +NX_Q8TD91 643 71909 4.77 0 NA NA PE1 X +NX_Q8TD94 323 33094 8.26 0 Nucleus NA PE1 7 +NX_Q8TDB4 240 25390 4.4 1 Mitochondrion;Mitochondrion outer membrane NA PE1 4 +NX_Q8TDB6 740 83554 8.31 0 Lysosome membrane;Cytosol;Cytoplasm;Early endosome membrane;Nucleoplasm;Nucleus NA PE1 3 +NX_Q8TDB8 520 56320 8 12 Membrane NA PE1 12 +NX_Q8TDC0 251 27157 9.42 0 Z line NA PE1 5 +NX_Q8TDC3 778 85087 9.39 0 Nucleoplasm;Cytoplasm;Synapse;Nucleus;Centrosome NA PE1 19 +NX_Q8TDD1 881 98595 10.03 0 Nucleolus;Nucleus;Golgi apparatus NA PE1 12 +NX_Q8TDD2 431 44994 8.67 0 Nucleus Osteogenesis imperfecta 12 PE1 12 +NX_Q8TDD5 553 64248 5.8 6 Autophagosome membrane;Nucleolus;Cytosol;Early endosome membrane;Cell membrane;Late endosome membrane;Lysosome membrane NA PE1 1 +NX_Q8TDE3 154 17041 8.69 0 Secreted NA PE1 14 +NX_Q8TDF5 533 60191 6.61 1 Postsynaptic density;Cell membrane;Golgi apparatus;Secreted NA PE1 18 +NX_Q8TDF6 673 74882 8.34 0 Cytoplasm;Cell membrane NA PE1 19 +NX_Q8TDG2 376 41696 6.32 0 Cytoplasm;Cytoskeleton;Nucleus NA PE2 X +NX_Q8TDG4 1101 124131 6.17 0 Nucleoplasm;Nucleus speckle NA PE1 4 +NX_Q8TDH9 187 21609 7.14 0 NA NA PE1 6 +NX_Q8TDI0 1954 223050 5.82 0 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm NA PE1 1 +NX_Q8TDI7 906 102610 9.5 6 Cell membrane NA PE2 20 +NX_Q8TDI8 760 87768 6.22 6 Cell membrane Deafness, autosomal dominant, 36;Deafness, autosomal recessive, 7 PE1 9 +NX_Q8TDJ6 3036 339641 5.93 0 Synaptic vesicle membrane Deafness, autosomal dominant, 71;Polyendocrine-polyneuropathy syndrome PE1 15 +NX_Q8TDL5 484 52442 6.72 0 Secreted NA PE1 20 +NX_Q8TDM0 211 22758 5.59 0 Cytosol;Cytoplasm;Cytoskeleton NA PE1 20 +NX_Q8TDM5 124 13004 5.49 0 Acrosome;Cell membrane NA PE1 19 +NX_Q8TDM6 1919 213868 7.1 0 Postsynaptic density;Cell junction;Cell membrane;Cilium basal body NA PE1 10 +NX_Q8TDN1 519 58979 6.23 6 Cell membrane NA PE1 16 +NX_Q8TDN2 545 62459 6.08 6 Cell membrane Cone dystrophy retinal 3B PE1 9 +NX_Q8TDN4 633 67599 9.32 0 Cytoplasm;Nucleus NA PE1 18 +NX_Q8TDN6 353 41401 9.92 0 Nucleolus;Nucleus NA PE1 5 +NX_Q8TDN7 264 31095 6.64 7 Endoplasmic reticulum membrane NA PE2 19 +NX_Q8TDP1 164 17840 4.95 0 Nucleus Aicardi-Goutieres syndrome 3 PE1 11 +NX_Q8TDQ0 301 33394 5.54 1 Cell junction;Membrane NA PE1 5 +NX_Q8TDQ1 290 32335 5.45 1 Cell membrane NA PE1 17 +NX_Q8TDQ7 276 31085 6.45 0 Cytoplasm NA PE1 4 +NX_Q8TDR0 691 78632 7.95 0 Cytoskeleton;Cilium;Cilium axoneme;Cilium basal body Senior-Loken syndrome 9 PE1 2 +NX_Q8TDR2 534 58051 9.78 0 Cytoplasm;Nucleolus;Nucleus NA PE1 20 +NX_Q8TDR4 215 23863 9.71 0 Nucleus NA PE1 21 +NX_Q8TDS4 363 41850 9.34 7 Cell membrane NA PE1 12 +NX_Q8TDS5 423 45811 9.75 7 Cell membrane NA PE1 2 +NX_Q8TDS7 321 36118 9.25 7 Cell membrane NA PE2 11 +NX_Q8TDT2 470 50962 4.59 7 Cell membrane NA PE1 11 +NX_Q8TDU5 208 23857 9.14 5 Cell membrane NA PE5 1 +NX_Q8TDU6 330 35248 9.62 7 Cell membrane NA PE1 2 +NX_Q8TDU9 374 41141 10.32 7 Cell membrane NA PE1 1 +NX_Q8TDV0 419 46637 6.13 7 Cell membrane NA PE2 5 +NX_Q8TDV2 347 38288 8.81 7 Cell membrane NA PE2 2 +NX_Q8TDV5 335 36889 9.1 7 Cell membrane NA PE1 X +NX_Q8TDW0 803 92450 7.54 4 Endoplasmic reticulum membrane;Cell membrane;Golgi apparatus NA PE1 1 +NX_Q8TDW4 575 64779 7.26 2 Centrosome;Membrane NA PE1 1 +NX_Q8TDW5 730 81523 8.96 0 Cytosol;Nucleoplasm;Cytoskeleton;Membrane NA PE1 X +NX_Q8TDW7 4557 501978 4.72 1 Membrane NA PE1 11 +NX_Q8TDX5 336 38035 6.52 0 NA NA PE1 2 +NX_Q8TDX6 532 61294 8.63 1 Golgi stack membrane;Cytoskeleton NA PE1 8 +NX_Q8TDX7 302 34551 8.49 0 Nucleoplasm;Cytoplasm;Nucleus;Spindle pole;Centrosome NA PE1 1 +NX_Q8TDX9 2849 315435 6.64 11 Cilium membrane Heterotaxy, visceral, 8, autosomal PE1 7 +NX_Q8TDY2 1594 183091 5.3 0 Nucleus membrane;Lysosome;Cytosol;Cytoplasm;Preautophagosomal structure;Nucleus NA PE1 8 +NX_Q8TDY3 377 41702 5.28 0 Cytoskeleton NA PE1 1 +NX_Q8TDY4 903 99155 5.98 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle NA PE1 1 +NX_Q8TDY8 1250 134210 5.81 1 Cytosol;Nucleoplasm;Cell membrane NA PE1 15 +NX_Q8TDZ2 1067 117875 6 0 Cytoplasm;Cytoskeleton;Midbody NA PE1 6 +NX_Q8TE02 316 34841 4.81 0 Cytosol;Cytoplasm;Nucleus NA PE1 17 +NX_Q8TE04 598 64339 7.51 0 Cytoplasm NA PE1 10 +NX_Q8TE12 382 42747 7.03 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Golgi apparatus NA PE1 1 +NX_Q8TE23 839 95183 6.08 7 Cell membrane NA PE3 1 +NX_Q8TE49 926 100677 8.68 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 15 +NX_Q8TE54 656 72213 8.17 11 Recycling endosome membrane NA PE1 8 +NX_Q8TE56 1095 121127 8.47 0 Nucleus;Extracellular matrix Weill-Marchesani syndrome 4 PE1 15 +NX_Q8TE57 1224 136203 8.99 0 Extracellular matrix NA PE1 5 +NX_Q8TE58 950 103287 8.94 0 Cytosol;Extracellular matrix NA PE1 11 +NX_Q8TE59 1207 134048 7.8 0 Cytoplasmic vesicle;Midbody;Extracellular matrix NA PE1 5 +NX_Q8TE60 1221 135167 8.91 0 Extracellular matrix Microcornea, myopic chorioretinal atrophy, and telecanthus PE1 16 +NX_Q8TE67 593 66861 8.09 0 Cytoplasmic vesicle;Cytoplasm NA PE1 1 +NX_Q8TE68 723 80251 5.76 0 Cytosol;Cytoplasm NA PE1 19 +NX_Q8TE69 158 17891 6.43 0 NA NA PE1 X +NX_Q8TE73 4624 529021 5.79 0 Cilium axoneme Ciliary dyskinesia, primary, 3 PE1 5 +NX_Q8TE76 937 106348 7.22 0 Nucleoplasm;Nucleus NA PE1 X +NX_Q8TE77 659 72996 5.19 0 Cytosol;Nucleus speckle;Cytoskeleton;Nucleus;Cell membrane NA PE1 11 +NX_Q8TE82 1336 146961 5.85 0 Cytosol;Nucleolus;Nucleus NA PE1 4 +NX_Q8TE85 626 70345 6.4 0 Nucleoplasm;Nucleus Van der Woude syndrome 2 PE1 1 +NX_Q8TE96 717 79476 4.93 0 Cytosol;Nucleus;Cell membrane NA PE1 2 +NX_Q8TE99 480 55240 9.17 1 Golgi apparatus membrane NA PE1 3 +NX_Q8TEA1 469 51770 8.18 0 Golgi apparatus NA PE1 10 +NX_Q8TEA7 893 100679 6.12 0 Nucleoplasm;Cytoplasm;Spindle;Nucleolus;Midbody Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 PE1 4 +NX_Q8TEA8 209 23424 8.35 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 20 +NX_Q8TEB1 546 61670 5.97 0 Nucleoplasm NA PE1 14 +NX_Q8TEB7 428 46521 5.92 1 Cytoskeleton;Perinuclear region;Endomembrane system NA PE1 X +NX_Q8TEB9 315 35823 8.47 4 Mitochondrion;Endoplasmic reticulum membrane;Endoplasmic reticulum;Membrane NA PE1 2 +NX_Q8TEC5 729 79320 9.96 0 Nucleoplasm;Nucleus NA PE1 5 +NX_Q8TED0 518 58415 9.18 0 Nucleolus;Endoplasmic reticulum NA PE1 5 +NX_Q8TED1 209 23881 9.41 1 Cytosol;Cytoskeleton;Membrane NA PE1 5 +NX_Q8TED4 501 54436 6.36 12 Endoplasmic reticulum membrane NA PE1 11 +NX_Q8TED9 768 86432 6.38 0 Cytoplasm;Podosome;Invadopodium;Stress fiber NA PE1 5 +NX_Q8TEE9 199 20873 7.64 0 Cytoplasm;Nucleus NA PE1 7 +NX_Q8TEF2 133 14519 8.75 1 Membrane NA PE2 10 +NX_Q8TEH3 1009 110577 6.51 0 Cytosol;Cytoplasmic vesicle;Clathrin-coated vesicle membrane;Presynaptic cell membrane;Nucleoplasm NA PE1 9 +NX_Q8TEJ3 882 92776 9.09 0 Nucleoplasm;Cytosol;Centrosome NA PE1 2 +NX_Q8TEK3 1537 164856 9.26 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8TEL6 797 90852 7.54 0 Cytosol NA PE1 20 +NX_Q8TEM1 1887 205111 6.33 1 Endoplasmic reticulum membrane;Nuclear pore complex;Nucleus membrane NA PE1 3 +NX_Q8TEP8 2537 279111 5.31 0 Cytosol;Centriole;Centrosome NA PE1 18 +NX_Q8TEQ0 813 91254 5.86 0 NA NA PE1 16 +NX_Q8TEQ6 1508 168589 6.17 0 Cytosol;Nucleoplasm;Nucleus;Gem;Cytoplasm NA PE1 5 +NX_Q8TEQ8 1089 118699 8.38 14 Endoplasmic reticulum membrane;Nucleolus;Nucleus Hyperphosphatasia with mental retardation syndrome 2 PE1 9 +NX_Q8TER0 1413 152204 6.59 0 Secreted NA PE1 2 +NX_Q8TER5 1519 164658 5.8 0 Cytoplasm NA PE1 14 +NX_Q8TES7 1133 125446 6.62 0 Centriole;Centrosome;Spindle pole;Cell junction NA PE1 17 +NX_Q8TET4 914 104334 5.82 0 Nucleoplasm;Cytoskeleton NA PE1 15 +NX_Q8TEU7 1601 179423 5.98 0 Cytosol;Cytoplasm;Centrosome;Cell membrane NA PE1 5 +NX_Q8TEU8 576 63941 5.85 0 Secreted NA PE1 17 +NX_Q8TEV8 140 15285 10.67 0 NA NA PE2 17 +NX_Q8TEV9 937 105022 5.36 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 17 +NX_Q8TEW0 1356 151423 7.41 0 Cytoplasm;Cell cortex;Cell membrane;Endomembrane system;Adherens junction;Cytoskeleton;Cell junction;Tight junction Neural tube defects PE1 10 +NX_Q8TEW6 326 37028 8.37 0 Cytoplasmic vesicle;Cytoskeleton NA PE1 16 +NX_Q8TEW8 1205 132494 8.54 0 Nucleoplasm;Nucleus;Cell junction;Tight junction;Endomembrane system NA PE1 2 +NX_Q8TEX9 1081 118715 4.88 0 Cytosol;Cytoplasm;Nucleus NA PE1 14 +NX_Q8TEY5 395 43432 5.28 1 Endoplasmic reticulum membrane;Nucleus membrane;Nucleoplasm;Golgi apparatus membrane;Mitochondrion;Nucleus NA PE1 1 +NX_Q8TEY7 942 106727 5.69 0 Nucleoplasm;Perinuclear region;Centrosome;Golgi apparatus NA PE1 1 +NX_Q8TEZ7 354 40464 8.69 7 Golgi apparatus;Cell membrane NA PE1 6 +NX_Q8TF01 805 92577 10.02 0 Cytosol;Nucleus speckle NA PE1 6 +NX_Q8TF05 950 107004 4.64 0 Nucleoplasm NA PE1 18 +NX_Q8TF08 81 9077 9.74 1 Mitochondrion inner membrane NA PE2 4 +NX_Q8TF09 96 10855 6.91 0 Cytoskeleton NA PE1 16 +NX_Q8TF17 1288 144777 5.95 0 Cytosol;Nucleoplasm Mononeuropathy of the median nerve mild;Charcot-Marie-Tooth disease 4C PE1 5 +NX_Q8TF20 911 105084 9.55 0 Nucleus NA PE1 4 +NX_Q8TF21 1146 124187 4.98 0 Cytosol;Cytoskeleton NA PE1 19 +NX_Q8TF27 550 60549 7.82 0 NA NA PE2 10 +NX_Q8TF30 809 90924 6.67 0 Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;Cytoplasmic vesicle membrane;cis-Golgi network;Cytoplasm NA PE1 15 +NX_Q8TF32 576 67217 9.03 0 Nucleus NA PE1 19 +NX_Q8TF39 744 85098 8.88 0 Nucleolus;Nucleus NA PE1 9 +NX_Q8TF40 1166 130555 5.33 0 Cytoplasm NA PE1 5 +NX_Q8TF42 649 72696 6.48 0 Cytoplasm;Nucleus;Cell membrane NA PE1 11 +NX_Q8TF44 421 44576 9.75 0 Cytoplasmic vesicle NA PE1 19 +NX_Q8TF45 676 77858 8.75 0 Nucleus NA PE1 19 +NX_Q8TF46 1054 120787 6.09 0 Cytosol;Cytoplasm;Centrosome;Cell membrane NA PE1 15 +NX_Q8TF47 636 73031 8.37 0 Cytoplasmic vesicle;Nucleus;Centrosome;Cell membrane NA PE1 16 +NX_Q8TF50 670 73622 6.01 0 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA PE1 19 +NX_Q8TF61 875 94496 8.6 0 Cytosol;Nucleus;Cell membrane NA PE1 2 +NX_Q8TF62 1192 135868 6.56 10 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus;Cell membrane NA PE1 15 +NX_Q8TF63 244 26704 9.97 0 Cytoplasm;Nucleus NA PE1 5 +NX_Q8TF64 312 33982 5.5 0 Nucleoplasm;Nucleus;Golgi apparatus Deafness, autosomal recessive, 15 PE1 19 +NX_Q8TF65 315 34354 6.07 0 Cytosol;Cytoplasm;Nucleus NA PE1 1 +NX_Q8TF66 581 64366 6.24 1 Cytoplasmic vesicle;Cell membrane;Membrane NA PE1 3 +NX_Q8TF68 577 63219 9.18 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q8TF71 515 55493 7.87 12 Cytoplasmic vesicle;Basolateral cell membrane;Cell junction;Cell membrane NA PE1 6 +NX_Q8TF72 1996 216857 7.87 0 Adherens junction;Cytoskeleton NA PE1 4 +NX_Q8TF74 440 46289 10.93 0 Nucleoplasm;Cytoskeleton NA PE1 17 +NX_Q8TF76 798 88495 9.32 0 Spindle;Nucleus;Chromosome NA PE1 17 +NX_Q8WTP8 325 36350 9.4 0 Nucleolus;Nucleus;Nucleus membrane NA PE1 15 +NX_Q8WTP9 111 12302 4.4 0 NA NA PE1 X +NX_Q8WTQ1 72 8526 9.41 0 Secreted NA PE1 8 +NX_Q8WTQ4 265 30819 9.8 0 NA NA PE1 16 +NX_Q8WTQ7 553 62212 6.18 0 Membrane NA PE1 3 +NX_Q8WTR2 217 24194 6.11 0 Nucleoplasm NA PE1 2 +NX_Q8WTR4 605 68586 7.64 6 Perinuclear region;Growth cone;Golgi apparatus;Endomembrane system NA PE1 11 +NX_Q8WTR7 871 100182 8.63 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8WTR8 489 53174 9.63 0 Endoplasmic reticulum;Secreted NA PE2 19 +NX_Q8WTS1 349 39096 6.17 0 Cytoplasmic vesicle;Cytoplasm;Lipid droplet Chanarin-Dorfman syndrome PE1 3 +NX_Q8WTS6 366 40721 4.5 0 Nucleolus;Nucleus;Chromosome NA PE1 4 +NX_Q8WTT0 213 25038 6.59 1 Cell membrane NA PE1 12 +NX_Q8WTT2 800 92548 9.22 0 Nucleus speckle;Nucleolus;Nucleus NA PE1 10 +NX_Q8WTU0 396 44124 5.51 0 NA NA PE1 11 +NX_Q8WTU2 575 60819 5.57 0 Secreted NA PE1 7 +NX_Q8WTV0 552 60878 8.55 2 Cytoplasmic vesicle;Caveola;Cell membrane NA PE1 12 +NX_Q8WTV1 239 27059 10.26 0 Nucleus NA PE1 1 +NX_Q8WTW3 980 108978 6.96 0 Golgi apparatus membrane Congenital disorder of glycosylation 2G PE1 17 +NX_Q8WTW4 380 43658 6.1 0 Cytosol;Lysosome membrane Epilepsy, familial focal, with variable foci 2 PE1 3 +NX_Q8WTX7 329 36275 5.05 0 Cytosol NA PE1 22 +NX_Q8WTX9 485 54818 10.35 4 Cytosol;Membrane NA PE1 16 +NX_Q8WTZ3 238 27158 8.81 0 Nucleus NA PE2 19 +NX_Q8WTZ4 195 22622 10.76 0 NA NA PE5 X +NX_Q8WU03 294 34277 6.22 0 Mitochondrion;Endoplasmic reticulum NA PE1 11 +NX_Q8WU08 396 46369 6.87 0 Centrosome;Cell membrane NA PE1 5 +NX_Q8WU10 500 55793 5.58 0 Sarcomere;Nucleus speckle;Nucleus Myopathy, myofibrillar, 8 PE1 12 +NX_Q8WU17 664 75994 5.99 12 Endoplasmic reticulum membrane Renal cell carcinoma PE1 8 +NX_Q8WU20 508 57029 5.65 0 Cell junction;Endomembrane system NA PE1 12 +NX_Q8WU39 189 20694 5.37 0 Cytoplasm;Endoplasmic reticulum lumen;Secreted NA PE1 5 +NX_Q8WU43 125 13691 5.92 0 NA NA PE1 2 +NX_Q8WU49 177 19475 10.26 0 NA NA PE2 7 +NX_Q8WU58 562 59652 9.35 0 Nucleoplasm NA PE1 17 +NX_Q8WU66 669 74924 6.01 0 Cell surface;Stereocilium;Secreted Deafness, autosomal recessive, 98 PE1 21 +NX_Q8WU67 409 46009 6.7 1 Cytoplasmic vesicle;Nucleus;Cell membrane;Membrane NA PE1 18 +NX_Q8WU68 220 25744 6.7 0 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA PE1 19 +NX_Q8WU76 684 75127 6.21 0 Nucleus NA PE1 4 +NX_Q8WU79 429 46786 9.01 0 Cytoplasm NA PE1 1 +NX_Q8WU90 426 48602 5.22 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q8WUA2 492 57225 5.63 0 Nucleoplasm;Nucleus NA PE1 6 +NX_Q8WUA4 911 100680 6.94 0 Nucleus NA PE1 2 +NX_Q8WUA7 517 59121 5.63 0 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA PE1 22 +NX_Q8WUA8 353 37807 6.38 0 Nucleus;Secreted NA PE1 11 +NX_Q8WUB2 273 30792 9.39 0 Cytoskeleton NA PE1 12 +NX_Q8WUB8 498 56051 6.23 0 Nucleus NA PE1 6 +NX_Q8WUD1 216 24214 7.69 0 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane NA PE1 14 +NX_Q8WUD4 166 19181 6.81 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q8WUD6 406 45097 6.45 8 Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 12 +NX_Q8WUE5 264 29052 5.26 0 NA NA PE1 X +NX_Q8WUF5 828 89091 6.37 0 Cytosol;Cytoplasm;Nucleus NA PE1 19 +NX_Q8WUF8 416 47972 5.75 0 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Nucleoplasm NA PE1 5 +NX_Q8WUG5 538 57686 7.14 11 Vacuole membrane;Cell membrane NA PE1 14 +NX_Q8WUH1 139 16111 5.35 0 Cytosol;Cytoplasm;Nucleus NA PE1 14 +NX_Q8WUH2 860 97158 6.1 0 Cytoplasmic vesicle;Cytoplasm;Early endosome NA PE1 2 +NX_Q8WUH6 116 11748 9.3 2 Membrane NA PE1 12 +NX_Q8WUI4 952 102927 7.24 0 Cytosol;Cytoplasm;Nucleus NA PE1 12 +NX_Q8WUJ0 223 25492 5.89 0 Nucleoplasm;Cytosol;Nucleus NA PE1 14 +NX_Q8WUJ1 264 28690 8.73 0 Nucleolus;Centrosome;Nucleus membrane;Secreted NA PE1 17 +NX_Q8WUJ3 1361 152998 7.98 0 Secreted;Cytoplasm;Clathrin-coated pit;Endoplasmic reticulum;Nucleus;Cell membrane NA PE1 15 +NX_Q8WUK0 201 22844 9.8 0 Mitochondrion;Mitochondrion inner membrane NA PE1 11 +NX_Q8WUM0 1156 128979 4.97 0 Kinetochore;Nuclear pore complex;Nucleus membrane NA PE1 1 +NX_Q8WUM4 868 96023 6.13 0 Melanosome;Cytosol;Midbody ring;Centrosome;Exosome;Tight junction NA PE1 3 +NX_Q8WUM9 679 73700 6.65 10 Cytoplasmic vesicle;Membrane NA PE1 2 +NX_Q8WUN7 234 26190 5.45 0 Cytoplasm NA PE1 5 +NX_Q8WUP2 373 40670 5.71 0 Focal adhesion;Nucleolus;Cell junction;Stress fiber NA PE1 1 +NX_Q8WUQ7 758 88702 9.17 0 Cytosol;Nucleoplasm;Nucleus;Nucleus speckle NA PE1 19 +NX_Q8WUR7 153 16353 9.85 0 Cytosol;Nucleus NA PE1 15 +NX_Q8WUS8 393 44284 8.43 2 Membrane NA PE2 16 +NX_Q8WUT4 740 78843 6.82 1 Cytosol;Nucleolus;Membrane NA PE1 20 +NX_Q8WUT9 341 37718 9.91 6 Mitochondrion inner membrane;Nucleus NA PE1 X +NX_Q8WUU4 475 50810 9.13 0 Nucleoplasm;Nucleus;Centrosome NA PE1 19 +NX_Q8WUU5 269 28690 9.47 0 Nucleus Cardiomyopathy, dilated 2B PE1 7 +NX_Q8WUU8 243 26287 4.2 2 Endoplasmic reticulum membrane NA PE1 5 +NX_Q8WUW1 75 8745 5.35 0 Nucleus speckle;Cytoskeleton;Cell junction NA PE1 3 +NX_Q8WUX1 472 51457 8.53 11 Cytosol;Cytoplasmic vesicle;Cell membrane NA PE1 X +NX_Q8WUX2 184 20875 5.31 0 Cytosol NA PE1 2 +NX_Q8WUX9 453 50911 5.26 0 Cytosol;Cytoplasm;Nucleus;Nucleus envelope NA PE1 8 +NX_Q8WUY1 208 23865 9.71 0 Cytosol;Nucleus speckle;Secreted NA PE1 8 +NX_Q8WUY3 3088 340635 4.34 0 Cytoplasm NA PE1 9 +NX_Q8WUY8 206 21650 10.75 1 Mitochondrion;Membrane NA PE1 19 +NX_Q8WUY9 529 61771 9.04 0 Cytosol;Nucleoplasm;Golgi apparatus NA PE1 5 +NX_Q8WUZ0 217 23468 5.15 0 Nucleoplasm NA PE1 16 +NX_Q8WV07 137 15354 5.5 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q8WV15 326 34609 6.28 4 Nucleoplasm;Membrane NA PE2 13 +NX_Q8WV16 495 55694 9.38 0 Nucleoplasm NA PE1 14 +NX_Q8WV19 159 17804 8.98 4 Cytosol;Nucleoplasm;Nucleus;Membrane NA PE1 6 +NX_Q8WV22 266 30855 7.13 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Telomere NA PE1 16 +NX_Q8WV24 401 45016 9.94 0 Cytoplasmic vesicle;Cytoplasm;Nucleolus NA PE1 12 +NX_Q8WV28 456 50466 8.18 0 Cytosol;Cytoplasm;Cell membrane Agammaglobulinemia 4, autosomal recessive PE1 10 +NX_Q8WV35 223 23797 8.08 0 Nucleoplasm NA PE1 16 +NX_Q8WV37 535 61708 9.26 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8WV41 574 65265 6.3 0 Cytosol;Cytoplasmic vesicle membrane;Membrane NA PE1 15 +NX_Q8WV44 630 71670 4.99 0 Cytoplasm;Nucleolus;Nucleus NA PE1 5 +NX_Q8WV48 283 30509 5.04 1 Nucleoplasm;Cell membrane;Membrane NA PE1 9 +NX_Q8WV60 388 43968 9.33 0 Mitochondrion NA PE1 5 +NX_Q8WV74 236 25370 8.74 0 Cytosol;Nucleolus NA PE1 11 +NX_Q8WV83 523 58887 9.39 10 Cell membrane;Membrane NA PE1 2 +NX_Q8WV92 249 29314 8.12 0 Cytoplasmic vesicle;Late endosome membrane;Midbody;Membrane NA PE1 2 +NX_Q8WV93 481 54845 6.87 0 Cytosol;Cell membrane;Mitochondrion membrane NA PE1 6 +NX_Q8WV99 257 28023 6.5 0 Cytosol;Endoplasmic reticulum membrane;Nucleolus;Nucleus NA PE1 2 +NX_Q8WVB3 486 53790 5.61 0 Mitochondrion;Cytoplasm;Nucleolus;Nucleus;Extracellular vesicle NA PE1 17 +NX_Q8WVB6 975 107383 6.78 0 Cytosol;Nucleoplasm;Nucleus NA PE1 16 +NX_Q8WVC0 666 75404 4.38 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 15 +NX_Q8WVC6 231 26550 9.61 0 Nucleus NA PE1 17 +NX_Q8WVD3 245 28193 6.5 0 Mitochondrion;Chromosome NA PE1 18 +NX_Q8WVD5 230 25535 5.07 0 Nucleoplasm;Cytoskeleton;Membrane NA PE1 11 +NX_Q8WVE0 214 24506 4.47 0 Cytosol;Cytoplasm;Cell membrane NA PE1 13 +NX_Q8WVE6 324 34760 4.73 4 Membrane NA PE1 5 +NX_Q8WVE7 144 15250 9.3 3 Endoplasmic reticulum membrane;Nucleus envelope NA PE1 16 +NX_Q8WVF1 389 44586 5.64 0 Basal cell membrane;Nucleolus;Nucleus;Cell membrane NA PE1 1 +NX_Q8WVF2 138 16563 5.47 0 Extracellular matrix NA PE1 10 +NX_Q8WVF5 259 29967 6.62 0 Microtubule organizing center NA PE1 13 +NX_Q8WVH0 158 17557 4.89 0 Synapse;Membrane NA PE1 15 +NX_Q8WVI0 70 8696 10.87 1 Nucleoplasm;Mitochondrion;Cell membrane;Membrane NA PE1 3 +NX_Q8WVI7 109 12346 6.31 0 Cytoplasm;Nucleolus;Nucleus;Golgi apparatus NA PE1 2 +NX_Q8WVJ2 157 17676 4.99 0 Kinetochore;Cytoplasm;Nucleus;Centrosome;Spindle pole NA PE1 5 +NX_Q8WVJ9 160 18124 9.51 0 Cytoplasm;Nucleolus;Nucleus Focal facial dermal dysplasia 3, Setleis type;Barber-Say syndrome;Ablepharon-macrostomia syndrome PE1 2 +NX_Q8WVK2 155 18860 11.62 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q8WVK7 121 14188 6.75 0 Kinetochore;Spindle NA PE1 17 +NX_Q8WVL7 239 27290 5 0 Nucleolus;Nucleus;Golgi apparatus NA PE1 11 +NX_Q8WVM0 346 39543 9.35 0 Mitochondrion NA PE1 6 +NX_Q8WVM7 1258 144427 5.4 0 Centromere;Nucleus;Chromosome Mental retardation, autosomal dominant 47 PE1 3 +NX_Q8WVM8 642 72380 5.89 0 Nucleoplasm;Golgi stack membrane;Endoplasmic reticulum membrane;Cytosol;Cytoplasm NA PE1 14 +NX_Q8WVN6 248 27039 7 1 Cell membrane;Secreted NA PE1 17 +NX_Q8WVN8 375 42818 4.87 0 Cytoplasm NA PE1 15 +NX_Q8WVP5 186 20827 9.57 0 Cytoplasm NA PE1 19 +NX_Q8WVP7 490 55098 5.68 9 Cytosol;Membrane Hypoplasia or aplasia of tibia with polydactyly;Laurin-Sandrow syndrome;Preaxial polydactyly 2;Syndactyly 4;Acheiropody PE1 7 +NX_Q8WVQ1 401 44840 5.72 1 Endoplasmic reticulum membrane;Golgi stack membrane;Cell membrane Desbuquois dysplasia 1;Epiphyseal dysplasia, multiple, 7 PE1 17 +NX_Q8WVR3 580 62597 9.13 0 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Microtubule organizing center NA PE1 7 +NX_Q8WVS4 1066 122571 6.88 0 Cilium;Microtubule organizing center Short-rib thoracic dysplasia 8 with or without polydactyly PE1 7 +NX_Q8WVT3 735 79375 4.81 0 Endoplasmic reticulum-Golgi intermediate compartment;Nucleus Encephalopathy, progressive, early-onset, with brain atrophy and spasticity PE1 2 +NX_Q8WVV4 589 68065 5.89 0 Nucleoplasm;Tight junction;Golgi apparatus Premature ovarian failure 2B PE1 X +NX_Q8WVV5 523 59070 5.73 1 Mitochondrion;Membrane NA PE1 6 +NX_Q8WVV9 542 60083 7.83 0 Cytosol;Mitochondrion;Nucleus NA PE1 2 +NX_Q8WVX3 66 7604 5.07 1 Endoplasmic reticulum;Membrane NA PE1 4 +NX_Q8WVX9 515 59357 9.25 1 Peroxisome membrane;Peroxisome Peroxisomal fatty acyl-CoA reductase 1 disorder PE1 11 +NX_Q8WVY7 318 36805 6.07 0 Nucleolus;Nucleus NA PE1 5 +NX_Q8WVZ1 309 34352 8.54 4 Membrane NA PE1 3 +NX_Q8WVZ7 376 42294 7.22 1 Endoplasmic reticulum membrane NA PE1 7 +NX_Q8WVZ9 684 77163 5.35 0 NA NA PE1 13 +NX_Q8WW01 171 18641 4.46 0 Nucleolus;Nucleus Pontocerebellar hypoplasia 2F PE1 1 +NX_Q8WW12 178 18925 6.86 0 Nucleus NA PE1 3 +NX_Q8WW14 234 26343 8.67 0 Mitochondrion NA PE1 10 +NX_Q8WW18 174 19346 5.26 0 Nucleoplasm NA PE1 17 +NX_Q8WW22 397 44798 7.52 0 Cytosol;Cell membrane;Membrane NA PE1 15 +NX_Q8WW24 435 50649 6.01 0 Cytoskeleton;Flagellum NA PE1 2 +NX_Q8WW27 367 41581 8.08 0 NA NA PE2 1 +NX_Q8WW32 186 22490 10.21 0 Nucleus;Chromosome NA PE1 1 +NX_Q8WW33 167 19266 6.04 0 Nucleoplasm;Cytoplasm NA PE1 12 +NX_Q8WW34 195 21842 8.5 2 Membrane NA PE1 20 +NX_Q8WW35 142 16122 4.82 0 Cytosol Short-rib thoracic dysplasia 17 with or without polydactyly PE1 3 +NX_Q8WW36 166 18005 9.33 0 NA NA PE1 X +NX_Q8WW38 1151 128159 6.03 0 Nucleoplasm;Nucleus Tetralogy of Fallot;Diaphragmatic hernia 3;Conotruncal heart malformations;46,XY sex reversal 9 PE1 8 +NX_Q8WW43 257 28460 9.21 7 Endoplasmic reticulum;Membrane NA PE1 15 +NX_Q8WW52 585 64028 6.19 1 Nucleoplasm;Membrane NA PE1 1 +NX_Q8WW59 207 23129 6.44 0 Nucleoplasm NA PE1 12 +NX_Q8WW62 240 27631 8.38 1 Endoplasmic reticulum membrane NA PE1 16 +NX_Q8WWA0 313 34962 5.66 0 Cell membrane;Secreted NA PE1 1 +NX_Q8WWA1 233 25495 5.36 2 Cytosol;Membrane NA PE1 3 +NX_Q8WWB3 177 20893 4.64 0 NA NA PE1 10 +NX_Q8WWB5 315 35957 5.96 0 Nucleoplasm;Cytosol NA PE1 11 +NX_Q8WWB7 406 43864 6.1 1 Lysosome membrane NA PE1 1 +NX_Q8WWC4 291 32545 9.31 0 Mitochondrion matrix;Mitochondrion NA PE1 2 +NX_Q8WWF1 131 14923 4 0 Cell membrane;Secreted NA PE2 1 +NX_Q8WWF3 244 28167 7.64 1 Membrane NA PE1 7 +NX_Q8WWF5 429 46958 8.34 1 Endoplasmic reticulum membrane NA PE1 19 +NX_Q8WWF6 145 16559 4.85 0 NA NA PE1 2 +NX_Q8WWF8 208 24229 5.76 0 Cytoplasm;Cytoskeleton;Nucleus NA PE1 5 +NX_Q8WWG1 115 12722 6.12 1 Cell membrane;Secreted NA PE1 15 +NX_Q8WWG9 221 23806 4.68 1 Cytoskeleton;Nucleus;Membrane NA PE1 2 +NX_Q8WWH4 475 53458 5.6 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 7 +NX_Q8WWH5 349 37253 8.44 0 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Nucleus NA PE1 10 +NX_Q8WWI1 1683 192696 8.34 0 Cytosol;Cytoskeleton NA PE1 13 +NX_Q8WWI5 657 73302 8.93 9 Mitochondrion;Nucleoplasm;Cell membrane;Mitochondrion outer membrane NA PE1 9 +NX_Q8WWK9 683 76987 9.45 0 Cytosol;Cytoskeleton;Spindle;Spindle pole NA PE1 13 +NX_Q8WWL2 714 79671 7.75 0 Cytosol;Cell membrane;Cytoplasmic vesicle;Nucleus;Cytoskeleton;Cytoplasmic vesicle membrane NA PE1 16 +NX_Q8WWL7 1395 157916 6.28 0 Nucleus speckle;Nucleus NA PE1 X +NX_Q8WWM1 108 12077 4.81 0 Nucleoplasm;Cytoplasmic vesicle NA PE3 X +NX_Q8WWM7 1075 113374 8.7 0 Cytosol;Cytoplasm;Cytoplasmic granule;Nucleus speckle;Membrane NA PE1 16 +NX_Q8WWM9 190 21405 6.32 0 Cytoplasm;Nucleus speckle NA PE1 17 +NX_Q8WWN8 1544 169844 6.69 0 Cytoplasm;Cytoskeleton;Ruffle;Cell membrane;Lamellipodium NA PE1 5 +NX_Q8WWN9 437 48993 7.17 0 Cytoplasm;Cell membrane NA PE1 6 +NX_Q8WWP7 306 34369 9.11 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum;Golgi apparatus NA PE1 7 +NX_Q8WWQ0 1821 206689 9.02 0 Nucleoplasm;Nucleus Developmental delay, intellectual disability, obesity, and dysmorphic features PE1 6 +NX_Q8WWQ2 592 66596 9.95 0 Extracellular matrix Urofacial syndrome 1 PE1 10 +NX_Q8WWQ8 2551 276988 6 1 Cytosol;Cytoplasm;Cell membrane NA PE1 12 +NX_Q8WWR8 484 51572 7.97 0 Lysosome lumen;Membrane NA PE1 2 +NX_Q8WWR9 84 9188 6.53 0 NA NA PE2 8 +NX_Q8WWT9 602 66841 8.58 11 Cell membrane NA PE1 20 +NX_Q8WWU5 503 56141 5.08 1 Flagellum;Acrosome;Membrane NA PE1 6 +NX_Q8WWU7 325 36212 8.61 0 Secreted NA PE1 1 +NX_Q8WWV3 396 43590 9.22 0 Mitochondrion outer membrane Optic atrophy 10 with or without ataxia, mental retardation, and seizures PE1 6 +NX_Q8WWV6 532 57144 9.37 1 Cell membrane NA PE1 1 +NX_Q8WWW0 418 47090 9.31 0 Cytoplasm;Cytoskeleton NA PE1 1 +NX_Q8WWW8 586 65589 6.8 0 NA NA PE1 X +NX_Q8WWX0 329 36341 6.34 0 Cell membrane NA PE2 4 +NX_Q8WWX8 675 74036 6.33 14 Cytosol;Nucleus;Membrane NA PE1 16 +NX_Q8WWX9 145 16232 5.39 0 Golgi apparatus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleoplasm;Perinuclear region;Nucleus NA PE1 22 +NX_Q8WWY3 499 55456 5.63 0 Cajal body;Nucleus;Nucleus speckle Retinitis pigmentosa 11 PE1 19 +NX_Q8WWY6 194 21616 8.52 0 Nucleus NA PE1 19 +NX_Q8WWY7 111 12050 5.35 0 Secreted NA PE1 20 +NX_Q8WWY8 451 50859 7.15 0 Membrane;Secreted Hypotrichosis 7;Woolly hair autosomal recessive 2 PE1 3 +NX_Q8WWZ1 152 16943 4.94 0 Secreted NA PE1 2 +NX_Q8WWZ3 215 24802 5.23 0 Cytosol;Cytoplasm;Nucleus Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant PE1 1 +NX_Q8WWZ4 1543 175790 6.22 15 Membrane NA PE2 17 +NX_Q8WWZ7 1642 186508 6.51 15 Nucleus;Late endosome membrane;Lysosome membrane;Golgi apparatus membrane NA PE1 17 +NX_Q8WWZ8 545 60022 5.34 0 Nucleus envelope NA PE1 10 +NX_Q8WX39 176 20285 5.72 0 Secreted NA PE2 9 +NX_Q8WX77 278 29005 8.29 0 Cytoplasmic vesicle;Nucleoplasm;Secreted NA PE1 9 +NX_Q8WX92 580 65697 5.77 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q8WX93 1383 150564 6.67 0 Ruffle;Cytosol;Cell membrane;Axon;Focal adhesion;Lamellipodium;Cytoskeleton;Podosome;Growth cone;Z line Pancreatic cancer 1 PE1 4 +NX_Q8WX94 980 111807 5.87 0 Golgi apparatus Hydatidiform mole, recurrent, 1 PE1 19 +NX_Q8WXA2 126 14271 8.28 0 Secreted NA PE1 11 +NX_Q8WXA3 606 70010 5.61 0 Nucleoplasm;Nucleus NA PE1 10 +NX_Q8WXA8 447 50220 5.59 4 Cell membrane NA PE1 3 +NX_Q8WXA9 508 59380 10.39 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 5 +NX_Q8WXB1 218 24600 5.84 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q8WXB4 792 91812 8.16 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8WXC3 89 10107 6.3 0 Cytoplasm NA PE1 16 +NX_Q8WXC6 57 6211 3.6 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 2 +NX_Q8WXD0 754 86453 9.04 7 Cell membrane Cryptorchidism PE1 13 +NX_Q8WXD2 468 53005 4.94 0 Cytoplasmic vesicle;Secreted;Secretory vesicle membrane;Secretory vesicle lumen NA PE1 15 +NX_Q8WXD5 167 18824 5.02 0 Nucleoplasm;Cytoplasm;Nucleus;Gem NA PE1 2 +NX_Q8WXD9 1431 149814 9.21 0 Cytosol;Cytoplasm;Nucleus NA PE1 16 +NX_Q8WXE0 1202 126783 6.63 0 Cytoplasm;Cell membrane NA PE1 17 +NX_Q8WXE1 791 85838 5.9 0 Nucleus NA PE1 3 +NX_Q8WXE9 905 101165 5.2 0 Cytosol;Cytoplasm;Nucleolus;Synaptosome;Membrane NA PE1 14 +NX_Q8WXF0 261 30512 11.69 0 Nucleus NA PE1 6 +NX_Q8WXF1 523 58744 6.26 0 Nucleus speckle;Nucleolus;Nucleoplasm;Cytoplasm;Nucleus;Nucleus matrix NA PE1 13 +NX_Q8WXF3 142 15451 5.41 0 Secreted NA PE1 19 +NX_Q8WXF5 182 20624 5.4 0 NA NA PE2 7 +NX_Q8WXF7 558 63544 5.82 2 Endoplasmic reticulum membrane;Axon;Golgi apparatus membrane Neuropathy, hereditary sensory, 1D;Spastic paraplegia 3, autosomal dominant PE1 14 +NX_Q8WXF8 326 36179 9.23 0 Nucleoplasm;Nucleolus NA PE1 19 +NX_Q8WXG1 361 42170 8.53 0 Endoplasmic reticulum membrane;Nucleolus;Golgi apparatus;Lipid droplet;Endoplasmic reticulum;Mitochondrion outer membrane;Mitochondrion inner membrane;Mitochondrion NA PE1 2 +NX_Q8WXG6 1647 183303 5.72 0 Cytosol;Cytoplasm;Cell membrane;Membrane NA PE1 11 +NX_Q8WXG8 99 11620 7.73 0 NA NA PE1 5 +NX_Q8WXG9 6306 693069 4.53 7 Photoreceptor inner segment;Lipid droplet;Cell membrane;Stereocilium membrane Febrile seizures, familial, 4;Usher syndrome 2C PE1 5 +NX_Q8WXH0 6885 796442 5.26 1 Nucleus membrane;Sarcoplasmic reticulum membrane;Nucleoplasm;Nucleus outer membrane;Cell membrane;Focal adhesion;Mitochondrion;Cytoskeleton;Z line Emery-Dreifuss muscular dystrophy 5, autosomal dominant PE1 14 +NX_Q8WXH2 748 81469 9.43 1 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Cell membrane Huntington disease-like 2 PE1 16 +NX_Q8WXH4 323 35367 8.39 0 NA NA PE1 X +NX_Q8WXH5 440 50623 6.63 0 Cytosol;Nucleus NA PE1 14 +NX_Q8WXH6 277 31076 9.45 0 Cell membrane NA PE2 X +NX_Q8WXI2 1034 117535 6.34 0 Cytoplasm;Golgi apparatus;Cell membrane;Membrane Mental retardation, X-linked, syndromic, Houge type PE1 X +NX_Q8WXI3 467 50894 6.55 0 Cytoplasm;Nucleus Glaucoma 1, open angle, F PE1 7 +NX_Q8WXI4 607 68492 8.66 0 Cytosol;Cytoplasm NA PE1 1 +NX_Q8WXI7 14507 1519175 5.13 1 Extracellular space;Cell membrane NA PE1 19 +NX_Q8WXI8 215 24704 8.28 1 Membrane NA PE1 12 +NX_Q8WXI9 593 65261 9.73 0 Nucleoplasm;Nucleus speckle Mental retardation, autosomal dominant 18 PE1 1 +NX_Q8WXJ9 295 34282 9.05 0 NA NA PE1 1 +NX_Q8WXK1 588 65799 5.51 0 NA NA PE2 7 +NX_Q8WXK3 278 30007 6.36 0 Nucleus;Golgi apparatus NA PE1 10 +NX_Q8WXK4 309 33943 5.53 0 NA NA PE1 X +NX_Q8WXQ3 324 35482 5.84 0 NA NA PE2 14 +NX_Q8WXQ8 436 49036 6.24 0 Nucleus;Secreted NA PE1 7 +NX_Q8WXR4 1341 151829 8.4 0 Cytoskeleton;Stereocilium NA PE1 2 +NX_Q8WXS3 180 19224 5.47 0 Synaptosome;Cytosol;Cytoplasm;Nucleus;Postsynaptic density;Membrane raft NA PE1 8 +NX_Q8WXS4 190 20932 7.65 4 Cytosol;Nucleolus;Nucleus;Membrane NA PE1 2 +NX_Q8WXS5 425 43313 9.34 5 Postsynaptic density;Cell membrane NA PE1 19 +NX_Q8WXS8 1223 133888 6.81 0 Cytosol;Extracellular matrix NA PE1 10 +NX_Q8WXT5 416 45892 9.74 0 Nucleus NA PE2 9 +NX_Q8WXU2 420 48527 8.88 0 Cytosol;Cytoplasm;Nucleus;Cell membrane Dyslexia 1;Ciliary dyskinesia, primary, 25 PE1 15 +NX_Q8WXW3 757 89805 5.78 0 Secreted;Cytoplasm;Microtubule organizing center;Centriolar satellite;Nucleus;Centrosome Joubert syndrome 33 PE1 13 +NX_Q8WXX0 4024 461159 5.7 0 Cytosol;Cilium axoneme NA PE1 2 +NX_Q8WXX5 260 29910 5.58 0 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA PE1 10 +NX_Q8WXX7 1259 138982 9.41 0 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus;Growth cone Mental retardation, autosomal dominant 26 PE1 7 +NX_Q8WY07 619 67169 5.82 14 Cell membrane NA PE1 X +NX_Q8WY21 1168 129635 7.38 1 Cytosol;Cell membrane;Membrane NA PE1 10 +NX_Q8WY22 251 27836 9.48 4 Nucleoplasm;Mitochondrion;Mitochondrion outer membrane NA PE1 12 +NX_Q8WY36 941 105130 8.96 0 Nucleoplasm;Cytosol;Nucleus NA PE1 3 +NX_Q8WY41 292 30230 8.29 0 Cytosol;Cytoplasm;Perinuclear region;Nucleoplasm Spermatogenic failure 12 PE1 10 +NX_Q8WY50 150 16680 7.02 0 NA NA PE2 21 +NX_Q8WY54 755 83952 4.93 0 Cytoplasm;Nucleolus;Nucleus NA PE1 17 +NX_Q8WY64 445 49910 6.9 0 Cytoplasm;Cell membrane NA PE1 6 +NX_Q8WY91 577 62890 9.39 0 Nucleoplasm;Nucleus speckle NA PE1 2 +NX_Q8WY98 164 17601 8.76 3 Cytoplasmic vesicle;Membrane NA PE1 1 +NX_Q8WYA0 676 79746 8.9 0 Cytosol;Cilium;Centrosome Short-rib thoracic dysplasia 19 with or without polydactyly PE1 12 +NX_Q8WYA1 636 70887 7.01 0 Nucleolus;Nucleus NA PE1 12 +NX_Q8WYA6 563 65173 4.96 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 20 +NX_Q8WYB5 2073 231378 5.68 0 Nucleus Genitopatellar syndrome;Ohdo syndrome, SBBYS variant PE1 10 +NX_Q8WYH8 240 27751 7.53 0 Nucleus NA PE1 2 +NX_Q8WYJ6 367 41971 5.56 0 Cytoplasm;Cytoskeleton;Midbody;Centrosome NA PE1 16 +NX_Q8WYK0 555 62034 6.3 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 5 +NX_Q8WYK1 1306 145623 5.86 1 Cytoplasmic vesicle;Nucleolus;Nucleus;Membrane NA PE1 2 +NX_Q8WYK2 163 18704 9.3 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 14 +NX_Q8WYL5 1049 115511 5.87 0 Cleavage furrow;Nucleoplasm;Cell membrane;Cytosol;Lamellipodium;Cytoskeleton;Midbody NA PE1 12 +NX_Q8WYN0 398 45378 4.93 0 Cytoplasm;Cytoskeleton NA PE1 X +NX_Q8WYN3 585 64900 4.68 0 Nucleolus;Nucleus NA PE2 2 +NX_Q8WYP3 895 100163 6.15 0 Cytosol;Cytoplasm;Nucleolus;Golgi apparatus MACS syndrome PE1 20 +NX_Q8WYP5 2266 252498 6.19 0 Kinetochore;Nucleus membrane;Nucleoplasm;Cytoplasm;Nuclear pore complex;Nucleus envelope;Nucleus matrix;Nucleus NA PE1 1 +NX_Q8WYQ3 142 14149 7.73 0 Mitochondrion;Cytoplasm;Mitochondrion intermembrane space Myopathy, isolated mitochondrial, autosomal dominant;Spinal muscular atrophy, Jokela type;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 PE1 22 +NX_Q8WYQ4 148 16487 9.03 0 NA NA PE1 22 +NX_Q8WYQ5 773 86045 5.68 0 Nucleolus;Nucleus NA PE1 22 +NX_Q8WYQ9 949 100042 8.47 0 Nucleus membrane NA PE1 16 +NX_Q8WYR1 880 97348 6.3 0 Cytosol;Cytoplasm;Nucleus;Cell membrane;Microtubule organizing center Ataxia-oculomotor apraxia 3 PE1 17 +NX_Q8WYR4 309 35124 4.58 0 Nucleoplasm;Cytoplasm;Cilium Ciliary dyskinesia, primary, 24 PE1 21 +NX_Q8WZ04 291 32155 9.3 1 Cytoplasm;Endoplasmic reticulum;Membrane Deafness, autosomal recessive, 63 PE1 11 +NX_Q8WZ19 329 36357 6.77 0 Nucleus NA PE1 16 +NX_Q8WZ26 134 14832 8.26 0 NA NA PE2 19 +NX_Q8WZ33 124 13947 7.7 0 Cytoplasm;Nucleolus NA PE1 4 +NX_Q8WZ42 34350 3816030 6.02 0 Cytoplasm;Nucleus Limb-girdle muscular dystrophy 2J;Salih myopathy;Cardiomyopathy, familial hypertrophic 9;Tardive tibial muscular dystrophy;Hereditary myopathy with early respiratory failure;Cardiomyopathy, dilated 1G PE1 2 +NX_Q8WZ55 320 35197 4.24 2 Cytoplasm;Cell membrane Bartter syndrome 4A, neonatal, with sensorineural deafness PE1 1 +NX_Q8WZ59 177 19457 5.15 1 Membrane NA PE1 19 +NX_Q8WZ60 621 70359 5.89 0 NA NA PE1 3 +NX_Q8WZ64 1704 193452 7.11 0 Cytoplasm;Cytoskeleton;Focal adhesion NA PE1 4 +NX_Q8WZ69 217 24620 7.61 0 NA NA PE2 11 +NX_Q8WZ71 300 30404 8.74 2 Membrane NA PE1 3 +NX_Q8WZ73 363 40514 5.33 0 Cytosol;Cytoplasmic vesicle;Recycling endosome membrane;Cell membrane NA PE1 17 +NX_Q8WZ74 1663 181051 8.23 0 Cytosol;Midbody ring;Cell cortex;Dendritic spine NA PE1 7 +NX_Q8WZ75 1007 107457 6.18 0 Cell membrane NA PE1 11 +NX_Q8WZ79 361 41713 9.4 0 Lysosome NA PE2 1 +NX_Q8WZ82 227 24418 6.44 0 Nucleoplasm;Cytosol NA PE1 17 +NX_Q8WZ84 308 34445 8.7 7 Cell membrane NA PE2 11 +NX_Q8WZ92 322 35786 8.01 7 Cell membrane NA PE2 11 +NX_Q8WZ94 311 34296 8.67 7 Cell membrane NA PE2 11 +NX_Q8WZA0 190 21495 4.88 0 Cytosol;Nucleoplasm NA PE1 1 +NX_Q8WZA1 660 75252 6.37 1 Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy limb-girdle C3;Retinitis pigmentosa 76;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 PE1 1 +NX_Q8WZA2 1011 115522 6.37 0 Cytoplasm;Focal adhesion;Membrane NA PE1 2 +NX_Q8WZA6 343 38518 8.85 7 Cell membrane NA PE3 17 +NX_Q8WZA8 35 3819 7.96 0 NA NA PE5 11 +NX_Q8WZA9 623 62717 4.81 0 Cytoplasmic vesicle NA PE1 19 +NX_Q8WZB0 136 14715 11.93 0 NA NA PE5 9 +NX_Q902F8 699 79168 9.26 1 Virion;Cell membrane NA PE1 8 +NX_Q902F9 699 79195 9.06 1 Virion;Cell membrane NA PE1 19 +NX_Q92185 356 40519 9.41 1 Golgi apparatus membrane NA PE1 12 +NX_Q92186 375 42430 9.48 1 Golgi apparatus membrane;Microtubule organizing center NA PE2 15 +NX_Q92187 359 41295 9.77 1 Golgi apparatus membrane;Golgi apparatus NA PE1 5 +NX_Q92466 427 47864 9.56 0 Nucleoplasm;Nucleus;Cell junction Xeroderma pigmentosum complementation group E PE1 11 +NX_Q92478 149 17307 9.02 1 Membrane NA PE1 12 +NX_Q92481 460 50474 8.41 0 Nucleoplasm;Nucleus Char syndrome;Patent ductus arteriosus 2 PE1 6 +NX_Q92482 292 31544 6.74 6 Basolateral cell membrane;Nucleus;Cell membrane NA PE1 9 +NX_Q92484 453 51260 5.88 0 Mitochondrion;Nucleolus;Nucleus;Secreted NA PE1 6 +NX_Q92485 455 50814 5.36 0 Cytosol;Golgi apparatus;Cell membrane;Secreted NA PE1 1 +NX_Q92496 578 65351 4.85 0 Secreted NA PE1 1 +NX_Q92499 740 82432 6.8 0 Nucleoplasm;Cytosol;Cytoplasm;Cytoplasmic granule;Nucleus;Mitochondrion NA PE1 2 +NX_Q92502 1023 112601 5.87 0 Focal adhesion NA PE1 X +NX_Q92503 715 81250 6.01 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleoplasm NA PE1 17 +NX_Q92504 469 50118 6.36 6 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum NA PE1 6 +NX_Q92506 261 26974 6.09 0 Mitochondrion matrix NA PE1 6 +NX_Q92508 2521 286790 7.37 36 Endoplasmic reticulum membrane;Lamellipodium membrane;Cell membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane Lymphedema, hereditary, 3;Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema PE1 16 +NX_Q92519 343 38801 5.77 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleoplasm NA PE1 2 +NX_Q92520 227 24680 8.52 0 Cytoplasmic vesicle;Golgi apparatus;Secreted NA PE1 7 +NX_Q92521 554 65056 9.39 9 Endoplasmic reticulum membrane;Cytosol;Cell membrane NA PE1 15 +NX_Q92522 213 22487 10.76 0 Nucleolus;Nucleus;Chromosome NA PE1 3 +NX_Q92523 772 87801 8.86 2 Mitochondrion outer membrane NA PE1 22 +NX_Q92526 530 57821 6.85 0 Cytoplasm NA PE1 17 +NX_Q92527 254 29029 9.09 0 Nucleus NA PE1 7 +NX_Q92529 594 64056 8.57 0 Cytosol;Nucleoplasm NA PE1 9 +NX_Q92530 271 29817 5.42 0 Cytosol;Cytoplasm;Endoplasmic reticulum NA PE1 20 +NX_Q92535 297 33583 8.66 8 Endoplasmic reticulum membrane Glycosylphosphatidylinositol biosynthesis defect 16 PE1 1 +NX_Q92536 515 56828 5.63 12 Cytoplasmic vesicle;Basolateral cell membrane;Cell membrane NA PE1 16 +NX_Q92537 303 32090 5.01 1 Nucleoplasm;Cytoskeleton;Membrane NA PE1 14 +NX_Q92538 1859 206446 5.48 0 Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus;Cytoplasm;Lipid droplet;cis-Golgi network;trans-Golgi network;Membrane NA PE1 10 +NX_Q92539 896 99399 5.18 0 Cytosol;Endoplasmic reticulum membrane;Cytoskeleton;Nucleus;Cell membrane Majeed syndrome PE1 18 +NX_Q92540 1137 127282 8.87 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA PE1 1 +NX_Q92541 710 80313 8.21 0 Nucleoplasm;Cytosol;Nucleus NA PE1 15 +NX_Q92542 709 78411 5.67 1 Cytosol;Cytoplasmic vesicle membrane;Melanosome;Membrane Acne inversa, familial, 1 PE1 1 +NX_Q92543 992 108598 4.97 0 Mitochondrion;Cytoplasmic vesicle membrane;Early endosome membrane NA PE1 11 +NX_Q92544 642 74519 6.11 9 Mitochondrion;Membrane;Golgi apparatus;Early endosome NA PE1 20 +NX_Q92545 1883 205138 8.74 2 Cytoplasmic vesicle;Cytoskeleton;Membrane NA PE1 2 +NX_Q92546 391 42455 5.65 0 Cytosol;Cell membrane;Membrane NA PE1 9 +NX_Q92547 1522 170679 6.52 0 Nucleus;Centrosome;Chromosome;Spindle pole NA PE1 3 +NX_Q92551 441 50236 6.81 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 3 +NX_Q92552 414 47611 5.83 0 Mitochondrion;Cytoplasm NA PE1 5 +NX_Q92556 727 83829 5.89 0 Cytoplasm;Cell membrane NA PE1 7 +NX_Q92558 559 61652 6.01 0 Cytoskeleton;Synapse;Focal adhesion NA PE1 6 +NX_Q92560 729 80362 6.38 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Tumor predisposition syndrome;Mesothelioma, malignant PE1 3 +NX_Q92561 330 37573 6.53 0 Mitochondrion NA PE1 8 +NX_Q92562 907 103635 6.46 0 Cytoplasmic vesicle;Endosome membrane;Lipid droplet Charcot-Marie-Tooth disease 4J;Amyotrophic lateral sclerosis 11;Yunis-Varon syndrome;Polymicrogyria, bilateral temporooccipital PE1 6 +NX_Q92563 424 46779 4.71 0 Nucleus speckle;Extracellular matrix NA PE1 10 +NX_Q92564 292 34068 5.58 0 Cytoplasmic vesicle;Nucleus NA PE1 4 +NX_Q92565 580 67733 5.89 0 Nucleoplasm;Nucleus NA PE1 7 +NX_Q92567 244 26184 9.01 0 Nucleoplasm NA PE1 11 +NX_Q92569 461 54448 5.68 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 1 +NX_Q92570 626 68230 8 0 Nucleus Ewing sarcoma PE1 9 +NX_Q92572 193 21732 5.23 0 Cytoplasmic vesicle membrane;Golgi apparatus NA PE1 5 +NX_Q92574 1164 129767 6.02 0 Cytosol;Cytoplasm;Membrane Focal cortical dysplasia 2;Tuberous sclerosis 1;Lymphangioleiomyomatosis PE1 9 +NX_Q92575 508 56778 6.1 0 Endoplasmic reticulum membrane;Nucleus envelope;Endoplasmic reticulum NA PE1 2 +NX_Q92576 2039 229481 6.52 0 Nucleoplasm NA PE1 6 +NX_Q92581 669 74162 6.03 13 Endosome membrane;Cytoplasmic vesicle Mental retardation, X-linked, syndromic, Christianson type PE1 X +NX_Q92583 94 10507 9.59 0 Secreted NA PE1 16 +NX_Q92585 1016 108054 8.45 0 Nucleoplasm;Nucleus speckle NA PE1 5 +NX_Q92597 394 42835 5.49 0 Cytosol;Cytoskeleton;Nucleus;Centrosome;Cell membrane Charcot-Marie-Tooth disease 4D PE1 8 +NX_Q92598 858 96865 5.28 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 13 +NX_Q92599 483 55756 5.89 0 Axon;Cytoplasm;Cytoskeleton;Synaptic vesicle membrane;Synapse NA PE1 5 +NX_Q92600 299 33631 8.18 0 P-body;Nucleus NA PE1 2 +NX_Q92604 370 43089 9.02 2 Endoplasmic reticulum membrane NA PE1 1 +NX_Q92608 1830 211948 6.43 0 Cytoskeleton;Endomembrane system Immunodeficiency 40 PE1 5 +NX_Q92609 795 89004 6.1 0 Endosome membrane;Cytoplasmic vesicle;Autophagosome;Golgi apparatus NA PE1 3 +NX_Q92610 1267 137528 8.1 0 Nucleoplasm;Nucleus NA PE1 15 +NX_Q92611 657 73768 6.45 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 3 +NX_Q92613 823 93808 6.79 0 Nucleolus;Nucleus NA PE1 X +NX_Q92614 2054 233115 5.95 0 Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus;Cytoplasm;trans-Golgi network;Cell surface;Cytoskeleton NA PE1 17 +NX_Q92615 738 80552 6.48 0 Cytosol NA PE1 10 +NX_Q92616 2671 292758 7.29 0 Cytosol;Cytoplasm NA PE1 12 +NX_Q92617 1050 116847 10.04 1 Membrane NA PE2 16 +NX_Q92618 1163 124289 9.02 0 Nucleoplasm;Cytosol;Nucleus NA PE1 18 +NX_Q92619 1136 124614 5.76 0 Cytoplasm;Ruffle membrane NA PE1 19 +NX_Q92620 1227 140503 6.11 0 Nucleus NA PE1 16 +NX_Q92621 2012 227922 5.81 0 Nuclear pore complex;Nucleus membrane Nephrotic syndrome 13 PE1 7 +NX_Q92622 972 108622 5.86 0 Cytoplasmic vesicle;Cytosol;Late endosome;Lysosome;Early endosome Spinocerebellar ataxia, autosomal recessive, 15 PE1 3 +NX_Q92623 222 24379 9.13 0 NA NA PE1 14 +NX_Q92624 585 66853 6.44 0 Cytoskeleton;Nucleus;Membrane NA PE1 17 +NX_Q92625 1134 123108 5.93 0 Cytosol;Nucleoplasm;Cell projection;Cytoplasm NA PE1 6 +NX_Q92626 1479 165275 6.79 0 Extracellular matrix Anterior segment dysgenesis 7 PE1 2 +NX_Q92628 1395 154789 4.71 0 Cytosol NA PE1 4 +NX_Q92629 289 32071 9.24 1 Cytoskeleton;Sarcolemma Limb-girdle muscular dystrophy 2F;Cardiomyopathy, dilated 1L PE1 5 +NX_Q92630 601 66652 9.7 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 12 +NX_Q92633 364 41109 8.87 7 Nucleus speckle;Endosome;Cell membrane;Cell surface NA PE1 9 +NX_Q92636 917 104372 5.8 0 Nucleolus NA PE1 8 +NX_Q92637 280 32232 8.87 1 Cell membrane NA PE1 1 +NX_Q92643 395 45252 5.76 1 Endoplasmic reticulum membrane NA PE1 1 +NX_Q92664 365 41515 9.34 0 Nucleus NA PE1 13 +NX_Q92665 395 45318 9.32 0 Mitochondrion;Nucleolus NA PE1 13 +NX_Q92667 903 97342 4.84 0 Mitochondrion;Mitochondrion outer membrane NA PE1 17 +NX_Q92670 426 49753 9.07 0 Nucleus NA PE5 11 +NX_Q92673 2214 248426 5.32 1 Endosome;Golgi apparatus;Secreted;Nucleoplasm;Membrane;Cell junction Alzheimer disease PE1 11 +NX_Q92674 756 86720 8.98 0 Cytosol;Nucleus;Centromere NA PE1 X +NX_Q92681 617 66790 4.78 0 Nucleoplasm;Nucleus;trans-Golgi network;Cell membrane;Cell junction NA PE1 1 +NX_Q92685 438 50126 9.56 11 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1D PE1 3 +NX_Q92686 78 7618 7.72 0 NA NA PE1 11 +NX_Q92688 251 28788 3.94 0 Cytoplasm;Nucleus NA PE1 9 +NX_Q92692 538 57742 4.74 1 Nucleolus;Cell junction;Cell membrane NA PE1 19 +NX_Q92696 567 65072 5.45 0 Nucleoplasm NA PE1 14 +NX_Q92698 747 84352 8.85 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q92729 1446 162423 6.46 1 Cell junction;Cell membrane NA PE1 1 +NX_Q92730 232 26056 8.24 0 Cytoplasmic vesicle;Cytoskeleton;Cell membrane NA PE1 12 +NX_Q92731 530 59216 8.81 0 Nucleus NA PE1 14 +NX_Q92733 491 52418 5.02 0 Nucleus speckle;Nucleus NA PE1 1 +NX_Q92734 400 43448 4.94 0 Cytosol;Cytoplasmic vesicle;Endoplasmic reticulum Spastic paraplegia 57, autosomal recessive;Neuropathy, hereditary motor and sensory, Okinawa type PE1 3 +NX_Q92736 4967 564567 5.73 6 Sarcoplasmic reticulum membrane;Cytosol;Cell membrane;Nucleoplasm;Sarcoplasmic reticulum;Membrane Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy;Arrhythmogenic right ventricular dysplasia, familial, 2 PE1 1 +NX_Q92737 203 22541 9.79 0 Nucleolus;Cell membrane NA PE1 22 +NX_Q92738 828 94104 9.1 0 Cytoplasmic vesicle;Golgi apparatus NA PE1 10 +NX_Q92743 480 51287 8.09 0 Cytosol;Cell membrane;Secreted Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2;Macular degeneration, age-related, 7;Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy PE1 10 +NX_Q92747 370 41569 8.46 0 Cytosol;Cytoskeleton;Nucleus;Cell junction;Cell membrane NA PE1 7 +NX_Q92748 146 16561 4.79 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 11 +NX_Q92750 862 91091 9.59 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Spermatogenic failure 13 PE1 18 +NX_Q92752 1358 149562 4.71 0 Extracellular matrix NA PE1 1 +NX_Q92753 470 53220 7.78 0 Nucleus NA PE1 9 +NX_Q92754 450 49177 7.72 0 Nucleoplasm;Nucleus NA PE1 20 +NX_Q92759 462 52186 9.12 0 Nucleus speckle;Nucleus NA PE1 6 +NX_Q92764 455 50361 4.85 0 NA NA PE1 17 +NX_Q92765 325 36254 8.82 0 Secreted Osteoarthritis 1 PE1 2 +NX_Q92766 1687 181420 6.54 0 Nucleus speckle;Nucleolus NA PE1 6 +NX_Q92769 488 55364 5.59 0 Cytoplasm;Nucleus NA PE1 6 +NX_Q92771 950 106006 8.57 0 Nucleus NA PE5 12 +NX_Q92772 493 56019 8.45 0 Cytoplasm;Nucleus;Centrosome NA PE1 4 +NX_Q92777 582 62996 8.58 0 Nucleoplasm;Synapse Schizophrenia PE1 3 +NX_Q92781 318 34979 9.47 0 Cytoplasmic vesicle;Endoplasmic reticulum lumen;Membrane Fundus albipunctatus PE1 12 +NX_Q92782 380 42502 6.47 0 Cytosol;Mitochondrion;Nucleoplasm;Nucleus;Cytoplasm NA PE1 19 +NX_Q92783 540 59180 4.7 0 Cytoplasmic vesicle;Cytoplasm;Early endosome membrane NA PE1 10 +NX_Q92784 378 43084 6.01 0 Nucleoplasm;Nucleus NA PE1 14 +NX_Q92785 391 44155 5.94 0 Nucleoplasm;Cytoplasm;Nucleus Coffin-Siris syndrome 7 PE1 11 +NX_Q92786 737 83203 6.74 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q92791 437 50381 4.68 0 Endoplasmic reticulum NA PE1 17 +NX_Q92793 2442 265351 8.83 0 Nucleoplasm;Cytoplasm;Nucleus Rubinstein-Taybi syndrome 1 PE1 16 +NX_Q92794 2004 225028 5.5 0 PML body;Nucleolus;Nucleus speckle;Nucleoplasm;Cytosol;Nucleus Mental retardation, autosomal dominant 32 PE1 8 +NX_Q92796 817 90314 6.56 0 Nucleolus;Nucleus Mental retardation, X-linked 90 PE1 X +NX_Q92797 1274 141148 5.82 0 Cytosol;Cell membrane;Nucleoplasm;Cytoskeleton;Cell junction;Tight junction NA PE1 19 +NX_Q92800 747 85271 8.01 0 Nucleoplasm;Nucleus NA PE1 17 +NX_Q92802 583 67459 5.96 0 Nucleoplasm NA PE1 13 +NX_Q92804 592 61830 8.04 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 17 +NX_Q92805 767 88184 5.24 0 Golgi apparatus membrane;trans-Golgi network membrane;Acrosome;Golgi apparatus NA PE1 9 +NX_Q92806 393 44020 4.86 2 Membrane NA PE1 1 +NX_Q92813 273 30552 8.18 1 Cytosol;Nucleoplasm;Membrane NA PE1 14 +NX_Q92817 2033 231604 6.56 0 Cytosol;Desmosome;Cytoskeleton;Cornified envelope NA PE1 17 +NX_Q92819 552 63566 8.85 7 Nucleus speckle;Membrane NA PE1 8 +NX_Q92820 318 35964 6.66 0 Extracellular space;Melanosome;Lysosome NA PE1 8 +NX_Q92823 1304 143890 5.45 1 Axon;Cell membrane;Secreted NA PE1 7 +NX_Q92824 1860 206942 5.71 1 Endomembrane system;Golgi apparatus;Secreted NA PE1 9 +NX_Q92826 284 30676 9.15 0 Nucleoplasm;Nucleus Prostate cancer PE1 17 +NX_Q92828 525 59763 8.24 0 Cytosol;Cell membrane NA PE1 9 +NX_Q92830 837 93926 9.18 0 Nucleus;Centrosome;Chromosome NA PE1 17 +NX_Q92831 832 93013 9.16 0 Nucleus;Centrosome NA PE1 3 +NX_Q92832 810 89635 5.66 0 Cytoplasm;Nucleus envelope;Secreted NA PE1 11 +NX_Q92833 1246 138734 9.46 0 Mitochondrion;Nucleus NA PE1 6 +NX_Q92834 1020 113387 4.79 0 Cilium axoneme;Flagellum axoneme;Centrosome;Golgi apparatus;Cilium basal body Retinitis pigmentosa and sinorespiratory infections with or without deafness;Retinitis pigmentosa 3;Cone-rod dystrophy, X-linked 1;Macular degeneration, X-linked, atrophic PE1 X +NX_Q92835 1189 133292 7.38 0 Cytosol;Cytoplasm;Cell membrane;Membrane;Cytoskeleton;Membrane raft NA PE1 2 +NX_Q92837 279 29093 7.65 0 Cytoplasmic vesicle;Cytoplasm;Cytosol NA PE1 10 +NX_Q92838 391 41294 8.54 1 Cytoplasmic vesicle;Lipid droplet;Cell membrane;Secreted Tooth agenesis, selective, X-linked, 1;Ectodermal dysplasia 1, hypohidrotic, X-linked PE1 X +NX_Q92839 578 64832 9.35 7 Nucleoplasm;Cell membrane;Membrane NA PE1 19 +NX_Q92841 729 80272 8.53 0 Cytosol;Nucleus speckle;Nucleolus;Nucleus NA PE1 22 +NX_Q92843 193 20746 5.21 0 Mitochondrion membrane NA PE1 14 +NX_Q92844 425 47816 5.46 0 Cytosol;Cytoplasm;Nucleolus NA PE1 2 +NX_Q92845 792 91205 4.96 0 NA NA PE1 1 +NX_Q92847 366 41329 8.65 7 Cell membrane Growth hormone deficiency, isolated partial PE1 3 +NX_Q92851 521 58951 6.95 0 Cytoplasmic vesicle;Golgi apparatus Gastric cancer;Familial non-Hodgkin lymphoma;Autoimmune lymphoproliferative syndrome 2A PE1 2 +NX_Q92854 862 96150 8.25 1 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane NA PE1 9 +NX_Q92858 354 38160 8.26 0 Nucleus NA PE2 4 +NX_Q92859 1461 160017 6.08 1 Nucleoplasm;Cell membrane;Golgi apparatus NA PE1 15 +NX_Q92870 758 83374 5.74 0 Mitochondrion NA PE1 4 +NX_Q92871 262 29747 5.53 0 Cytoplasm NA PE1 22 +NX_Q92874 299 32853 4.8 0 Mitochondrion;Cytoplasm;Endoplasmic reticulum;Secreted NA PE1 16 +NX_Q92876 244 26856 7.15 0 Nucleolus;Nucleus membrane;Secreted;Nucleoplasm;Cytoplasm;Microsome;Mitochondrion;Cytoskeleton NA PE1 19 +NX_Q92878 1312 153892 6.47 0 Nucleoplasm;Nucleus;Chromosome;Telomere Nijmegen breakage syndrome-like disorder PE1 5 +NX_Q92879 486 52063 8.7 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 11 +NX_Q92882 214 23787 5.46 0 Cytosol;Cytoplasm NA PE1 9 +NX_Q92886 237 25718 6.9 0 Nucleus NA PE1 5 +NX_Q92887 1545 174207 8.57 17 Apical cell membrane Dubin-Johnson syndrome PE1 10 +NX_Q92888 912 102435 5.47 0 Cytosol;Cytoplasm;Cell membrane;Membrane NA PE1 19 +NX_Q92889 916 104486 6.5 0 Nucleoplasm;Nucleus Fanconi anemia complementation group Q;XFE progeroid syndrome;Xeroderma pigmentosum complementation group F;Xeroderma pigmentosum type F/Cockayne syndrome PE1 16 +NX_Q92890 307 34500 6.27 0 Cytosol;Nucleus;Endoplasmic reticulum NA PE1 22 +NX_Q92896 1179 134552 6.52 1 Golgi apparatus membrane;Golgi apparatus NA PE1 16 +NX_Q92900 1129 124345 6.18 0 Nucleoplasm;Cytoplasm;P-body;Nucleus NA PE1 19 +NX_Q92901 407 46296 10.45 0 Nucleus speckle NA PE1 16 +NX_Q92902 700 79292 5.62 0 NA Hermansky-Pudlak syndrome 1 PE1 10 +NX_Q92903 461 53304 8.29 6 Endoplasmic reticulum membrane;Nucleus;Nucleus membrane NA PE1 4 +NX_Q92904 295 33178 8.92 0 Cytoplasm;Nucleus NA PE1 3 +NX_Q92905 334 37579 6.1 0 Nucleoplasm;Cytosol;Perinuclear region;Nucleus;Synaptic vesicle NA PE1 8 +NX_Q92908 595 60033 8.68 0 Nucleus Conotruncal heart malformations;Tetralogy of Fallot;Atrial septal defect 9;Pancreatic agenesis and congenital heart defects;Atrioventricular septal defect 5 PE1 18 +NX_Q92911 643 68666 7.37 13 Membrane Thyroid dyshormonogenesis 1 PE1 19 +NX_Q92913 245 27564 9.92 0 Nucleolus;Cytosol;Cytoplasm;Dendrite;Nucleus;Filopodium;Growth cone NA PE1 X +NX_Q92914 225 25005 9.92 0 Centrosome NA PE2 17 +NX_Q92915 247 27702 10.11 0 Nucleolus;Nucleus Spinocerebellar ataxia 27 PE1 13 +NX_Q92917 476 52229 5.85 0 Nucleoplasm;Nucleus NA PE1 X +NX_Q92918 833 91296 8.65 0 Nucleoplasm;Cell membrane NA PE1 19 +NX_Q92922 1105 122867 5.51 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 3 +NX_Q92925 531 58921 9.66 0 Nucleoplasm;Nucleus Specific granule deficiency 2 PE1 17 +NX_Q92928 201 22017 5.25 0 Cytoplasm;Membrane NA PE5 9 +NX_Q92930 207 23584 9.15 0 Nucleoplasm;Cytoplasmic vesicle;Phagosome membrane;Phagosome;Cell membrane NA PE1 15 +NX_Q92932 1015 111271 5.55 1 Cytoplasmic vesicle;Synaptic vesicle membrane;Secretory vesicle membrane NA PE1 7 +NX_Q92934 168 18392 6.6 0 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA PE1 11 +NX_Q92935 676 74697 8.51 1 Endoplasmic reticulum membrane NA PE1 1 +NX_Q92945 711 73115 6.85 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 19 +NX_Q92947 438 48127 8.31 0 Mitochondrion;Mitochondrion matrix Glutaric aciduria 1 PE1 19 +NX_Q92949 421 45247 5.04 0 Nucleus Allergic rhinitis PE1 17 +NX_Q92952 543 59987 9.04 6 Cytosol;Cytoskeleton;Membrane NA PE2 19 +NX_Q92953 911 102563 5.81 6 Dendrite;Nucleolus;Perikaryon;Midbody;Cell membrane NA PE1 8 +NX_Q92954 1404 151061 9.54 0 Secreted Camptodactyly-arthropathy-coxa vara-pericarditis syndrome PE1 1 +NX_Q92956 283 30392 6.93 1 Cytosol;Cytoplasm;Membrane NA PE1 1 +NX_Q92959 643 70044 9.13 12 Cell membrane Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 PE1 3 +NX_Q92963 219 25145 9.2 0 Cell membrane Noonan syndrome 8 PE1 1 +NX_Q92966 411 46753 5.12 0 Nucleolus;Nucleus NA PE1 9 +NX_Q92968 403 44130 7.77 1 Cytoplasmic vesicle;Peroxisome membrane Peroxisome biogenesis disorder 11A;Peroxisome biogenesis disorder complementation group 13;Peroxisome biogenesis disorder 11B PE1 2 +NX_Q92973 898 102355 4.83 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 5 +NX_Q92974 986 111543 6.89 0 Golgi apparatus;Cytoplasm;Cytoplasmic vesicle;Ruffle membrane;Cytoskeleton;Spindle;Tight junction Neurodevelopmental disorder with midbrain and hindbrain malformations PE1 1 +NX_Q92979 244 26720 9.28 0 Nucleolus;Nucleus Bowen-Conradi syndrome PE1 12 +NX_Q92982 152 16345 5.83 2 Membrane NA PE1 9 +NX_Q92985 503 54278 5.89 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Immunodeficiency 39 PE1 11 +NX_Q92988 240 26263 9.25 0 Nucleoplasm;Nucleus Non-syndromic orofacial cleft 15 PE1 17 +NX_Q92989 425 47646 6.2 0 Nucleoplasm;Nucleus Pontocerebellar hypoplasia 10 PE1 11 +NX_Q92990 594 68208 5.24 0 Nucleoplasm;Cytosol Glomuvenous malformations PE1 1 +NX_Q92993 513 58582 8.75 0 Nucleoplasm;Perinuclear region;Nucleolus;Nucleus NA PE1 11 +NX_Q92994 677 73840 5.29 0 Nucleoplasm;Nucleus Cerebellofaciodental syndrome PE1 14 +NX_Q92995 863 97327 5.33 0 Cytosol;Nucleoplasm NA PE1 3 +NX_Q92997 716 78055 6.18 0 Cytoplasm;Cytoskeleton;Midbody ring;Centrosome Robinow syndrome, autosomal dominant 3 PE1 3 +NX_Q93008 2570 292280 5.52 0 Cytoplasmic vesicle;Cytoplasm;Growth cone Mental retardation, X-linked 99 PE1 X +NX_Q93009 1102 128302 5.33 0 PML body;Nucleus;Chromosome;Cytoplasm NA PE1 16 +NX_Q93015 286 31445 7.75 0 Cytosol NA PE1 3 +NX_Q93033 1021 115109 6.51 1 Mitochondrion;Membrane NA PE1 1 +NX_Q93034 780 90955 8.08 0 Cytosol;Golgi apparatus NA PE1 11 +NX_Q93038 417 45385 6.01 1 Cytoskeleton;Nucleus;Focal adhesion;Cell membrane;Secreted NA PE1 1 +NX_Q93045 179 20828 8.4 0 Cytoplasmic vesicle;Endosome;Golgi apparatus;Cytoplasm;Endoplasmic reticulum;Axon;Perinuclear region;Membrane;Lamellipodium;Growth cone NA PE1 8 +NX_Q93050 837 96413 6.02 8 Nucleus speckle;Melanosome;Golgi apparatus;Cytosol;Cell membrane;Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA PE1 17 +NX_Q93052 612 65746 7.18 0 Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Nucleus;Cell junction NA PE1 3 +NX_Q93062 196 21802 7.77 0 Nucleoplasm;Cytoplasm;P-body;Nucleus;Cytosol NA PE1 8 +NX_Q93063 718 82255 6.12 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Golgi apparatus Potocki-Shaffer syndrome;Seizures, scoliosis, and macrocephaly syndrome;Hereditary multiple exostoses 2 PE1 11 +NX_Q93070 314 35878 9.31 0 Cytoplasm;Cell membrane NA PE1 12 +NX_Q93073 1101 121776 5.76 0 Nucleoplasm NA PE1 15 +NX_Q93074 2177 243081 6.63 0 Nucleoplasm;Nucleus Lujan-Fryns syndrome;Opitz-Kaveggia syndrome;Ohdo syndrome, X-linked PE1 X +NX_Q93075 761 85023 7.07 0 Cytosol;Nucleus speckle;Nucleus NA PE1 3 +NX_Q93077 130 14105 11.05 0 Nucleus;Chromosome NA PE1 6 +NX_Q93079 126 13892 10.31 0 Nucleus;Chromosome NA PE1 6 +NX_Q93083 61 6062 8.38 0 NA NA PE1 16 +NX_Q93084 1043 113977 5.42 10 Endoplasmic reticulum membrane;Nucleus membrane;Sarcoplasmic reticulum membrane NA PE1 17 +NX_Q93086 422 47205 7.46 2 Cytosol;Membrane NA PE1 17 +NX_Q93088 406 44998 6.58 0 Cytosol;Cytoplasm NA PE1 5 +NX_Q93091 150 17196 9.09 0 Cytoplasmic granule;Lysosome;Secreted NA PE1 14 +NX_Q93096 173 19815 9.17 0 Cytoplasm;Spindle;Cell membrane;Endoplasmic reticulum;Early endosome NA PE1 6 +NX_Q93097 391 43770 9.32 0 Nucleoplasm;Cytoplasmic vesicle;Secreted;Extracellular matrix NA PE1 1 +NX_Q93098 351 38721 8.93 0 Extracellular matrix NA PE2 10 +NX_Q93099 445 49964 6.5 0 Golgi apparatus Alkaptonuria PE1 3 +NX_Q93100 1093 124884 6.5 0 Cell membrane;Golgi apparatus Glycogen storage disease 9B PE1 16 +NX_Q95365 362 40416 5.89 1 Membrane NA PE1 6 +NX_Q95460 341 39366 5.87 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cell membrane;Secreted NA PE1 1 +NX_Q95604 372 41238 6.33 1 Membrane NA PE1 6 +NX_Q95IE3 266 29878 7.69 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA PE1 6 +NX_Q969D9 159 18141 9.75 0 Secreted NA PE1 5 +NX_Q969E1 77 8814 10.31 0 Secreted NA PE1 5 +NX_Q969E2 229 25728 9.07 4 Cytoplasmic vesicle;Lipid droplet;Cell membrane;Golgi apparatus;Membrane NA PE1 19 +NX_Q969E3 161 17961 10.41 0 Secreted NA PE1 10 +NX_Q969E4 200 22502 4.85 0 Nucleus NA PE1 X +NX_Q969E8 191 20894 4.25 0 Cytosol;Nucleolus;Nucleus;Cell junction Diamond-Blackfan anemia 14, with mandibulofacial dysostosis PE1 X +NX_Q969F0 183 20712 9.51 1 Mitochondrion;Endoplasmic reticulum membrane;Endoplasmic reticulum;Mitochondrion outer membrane NA PE1 X +NX_Q969F1 213 24049 4.13 0 Nucleoplasm;Nucleus NA PE1 6 +NX_Q969F2 451 50055 7.83 0 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA PE1 5 +NX_Q969F8 398 42586 9.93 7 Cytoplasmic vesicle;Cell membrane Precocious puberty, central 1;Hypogonadotropic hypogonadism 8 with or without anosmia PE1 19 +NX_Q969F9 1004 113736 6.01 0 Cytosol;Cytoplasm;Cell membrane;Golgi apparatus Hermansky-Pudlak syndrome 3 PE1 3 +NX_Q969G2 390 43124 7.52 0 Nucleus speckle;Nucleus Pituitary hormone deficiency, combined, 4 PE1 1 +NX_Q969G3 411 46649 4.85 0 Nucleoplasm;Nucleus Meningioma;Coffin-Siris syndrome 5 PE1 17 +NX_Q969G5 261 27701 6.05 0 Caveola;Cytosol;Cell membrane;Cytoplasm NA PE1 11 +NX_Q969G6 155 17623 7.85 0 Cytoplasm;Golgi apparatus NA PE1 9 +NX_Q969G9 470 52285 8.82 0 Cytoplasm;Nucleolus;Cell membrane NA PE1 16 +NX_Q969H0 707 79663 5.5 0 Cytoplasmic vesicle;Nucleoplasm;Nucleolus;Cytoplasm NA PE1 4 +NX_Q969H4 720 79706 5.22 0 Cytosol;Cytoplasm;Membrane NA PE1 1 +NX_Q969H6 163 18820 6.89 0 Nucleolus;Nucleus NA PE1 12 +NX_Q969H8 173 18795 6.2 0 Endoplasmic reticulum-Golgi intermediate compartment;Secreted NA PE1 19 +NX_Q969H9 104 11440 8.68 0 Nucleoplasm NA PE2 2 +NX_Q969I3 302 35101 6.41 0 Cytosol;Golgi apparatus NA PE1 11 +NX_Q969I6 547 60764 6.02 10 Cell membrane NA PE1 12 +NX_Q969J2 545 61579 7.56 0 Nucleus NA PE1 6 +NX_Q969J3 196 22222 5.97 0 Cytosol;Lysosome membrane NA PE1 12 +NX_Q969J5 263 30550 8.31 0 Secreted NA PE1 6 +NX_Q969K3 372 41641 4.83 0 Nucleus speckle;Nucleoplasm;Cell membrane;Endomembrane system;Cytosol;Nucleus NA PE1 12 +NX_Q969K4 478 53979 5.15 0 Cytosol;Cytoplasm;Nucleolus NA PE1 3 +NX_Q969K7 222 23772 8.06 4 Cytoplasmic vesicle;Membrane NA PE1 1 +NX_Q969L2 176 19125 5.76 4 Perinuclear region;Apical cell membrane;Cell membrane;Endomembrane system NA PE1 8 +NX_Q969L4 123 14080 9.3 0 Nucleus NA PE1 1 +NX_Q969M1 308 33917 6.73 0 Cytoplasm;Nucleus;Mitochondrion outer membrane NA PE1 1 +NX_Q969M2 543 61872 7.89 4 Gap junction;Cell membrane NA PE2 6 +NX_Q969M3 257 27989 4.18 5 Endoplasmic reticulum membrane;Golgi apparatus;Nucleoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;cis-Golgi network membrane;COPII-coated vesicle NA PE1 5 +NX_Q969M7 185 21077 6.31 0 Cytosol NA PE1 2 +NX_Q969N2 578 65700 8.64 1 Endoplasmic reticulum membrane Multiple congenital anomalies-hypotonia-seizures syndrome 3;Paroxysmal nocturnal hemoglobinuria 2 PE1 20 +NX_Q969N4 342 38029 6.42 7 Cell membrane NA PE2 6 +NX_Q969P0 613 65034 8.23 1 Cell membrane NA PE1 1 +NX_Q969P5 355 41637 9.45 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 8 +NX_Q969P6 601 69872 9.46 0 Mitochondrion NA PE1 8 +NX_Q969Q0 106 12469 10.67 0 Cytoplasm NA PE1 14 +NX_Q969Q1 353 40248 4.85 0 Cytoplasm;M line;Nucleus;Z line NA PE1 1 +NX_Q969Q4 196 21391 5.96 0 NA Leukemia, chronic lymphocytic PE1 13 +NX_Q969Q5 203 23124 5.85 0 Cytosol;Focal adhesion;Membrane NA PE1 5 +NX_Q969Q6 453 53316 5.07 0 Cytoplasm;Nucleus;Golgi apparatus NA PE1 14 +NX_Q969R2 916 101266 6.1 0 Cytosol;Membrane NA PE1 22 +NX_Q969R5 705 79110 6.4 0 Nucleoplasm;Nucleus NA PE1 22 +NX_Q969R8 447 49313 5.06 0 Nucleoplasm;Cytoskeleton;Lysosome membrane;Endoplasmic reticulum NA PE1 12 +NX_Q969S0 331 37424 9.24 11 Golgi apparatus membrane NA PE1 7 +NX_Q969S2 332 36826 6.32 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 8 +NX_Q969S3 477 54272 5.8 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Golgi apparatus NA PE1 5 +NX_Q969S6 136 15760 8.8 4 Endoplasmic reticulum membrane NA PE1 9 +NX_Q969S8 669 71445 5.44 0 Cytoplasm;Nucleolus;Nucleus NA PE1 22 +NX_Q969S9 779 86601 6.08 0 Mitochondrion NA PE1 5 +NX_Q969T3 373 41365 5.11 0 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Early endosome membrane;Microtubule organizing center NA PE1 20 +NX_Q969T4 207 22913 6.73 0 Cytoplasm;Nucleus NA PE1 2 +NX_Q969T7 300 34389 5.95 0 Cytoplasm NA PE1 17 +NX_Q969T9 261 28087 5.65 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Deafness, autosomal recessive, 107 PE1 17 +NX_Q969U6 566 63922 5.89 0 Mitochondrion;Cytoplasm NA PE1 9 +NX_Q969U7 264 29396 6.61 0 Nucleus NA PE1 18 +NX_Q969V1 340 38849 9.09 7 Cell membrane NA PE1 6 +NX_Q969V3 563 62974 6.4 1 Endoplasmic reticulum membrane;Nucleoplasm;Lipid droplet;Endoplasmic reticulum NA PE1 19 +NX_Q969V4 418 48283 5.98 0 Flagellum axoneme;Cilium axoneme NA PE1 17 +NX_Q969V5 352 39800 8.46 2 Mitochondrion;Cytosol;Peroxisome;Nucleoplasm;Mitochondrion outer membrane NA PE1 1 +NX_Q969V6 931 98919 5.59 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 22 +NX_Q969W0 71 8466 6.7 2 Endoplasmic reticulum membrane NA PE1 14 +NX_Q969W1 377 43633 9.71 4 Endoplasmic reticulum membrane;Cytosol;Nucleus;Nucleus membrane NA PE1 10 +NX_Q969W3 186 19484 11.26 0 Cytosol;Nucleoplasm NA PE1 17 +NX_Q969W8 418 49219 8.36 0 Nucleus NA PE1 19 +NX_Q969W9 287 31609 6.41 1 Cytoplasmic vesicle;Early endosome membrane;Golgi apparatus membrane NA PE1 20 +NX_Q969X0 211 23986 4.95 0 Cytosol;Cilium;Centrosome NA PE1 12 +NX_Q969X1 311 34607 7.6 7 Cytoplasmic vesicle;Endosome membrane;Lysosome membrane;Membrane NA PE1 2 +NX_Q969X2 333 38068 9.91 1 Golgi apparatus membrane;Nucleus NA PE1 9 +NX_Q969X5 290 32592 6.59 2 Endoplasmic reticulum membrane;Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Centrosome Arthrogryposis multiplex congenita, neurogenic type PE1 5 +NX_Q969X6 686 76890 9.03 0 Nucleolus;Chromosome NA PE1 16 +NX_Q969Y0 559 63800 9.05 0 Nucleoplasm;Cytoplasmic vesicle;Secreted NA PE1 3 +NX_Q969Y2 492 52058 6.03 0 Mitochondrion Combined oxidative phosphorylation deficiency 23 PE1 19 +NX_Q969Z0 631 70738 6.98 0 Mitochondrion;Mitochondrion matrix NA PE1 7 +NX_Q969Z3 335 38023 9.32 0 Mitochondrion;Mitochondrion outer membrane;Peroxisome NA PE1 1 +NX_Q969Z4 430 46092 8.75 1 Cytoplasm;Perinuclear region;Nucleus;Cell membrane NA PE1 11 +NX_Q96A00 147 16693 9.41 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 19 +NX_Q96A04 125 13670 9.18 0 Nucleus NA PE1 1 +NX_Q96A05 226 26074 8.79 0 NA NA PE1 2 +NX_Q96A08 127 14167 10.31 0 Nucleus;Chromosome NA PE1 6 +NX_Q96A09 425 46688 8.39 0 NA NA PE1 1 +NX_Q96A11 431 48956 9.96 1 Golgi stack membrane NA PE1 11 +NX_Q96A19 550 62596 5.49 0 Nucleoplasm;Nucleus NA PE1 16 +NX_Q96A22 123 13921 9.51 0 Cell junction NA PE1 11 +NX_Q96A23 557 62395 5.92 0 Nucleoplasm;Cytosol NA PE1 3 +NX_Q96A25 262 28920 6.74 1 Membrane NA PE1 17 +NX_Q96A26 154 17342 9.81 1 Mitochondrion;Cytosol;Membrane NA PE1 3 +NX_Q96A28 289 32436 7.58 1 Membrane NA PE2 1 +NX_Q96A29 364 39809 8.66 8 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2C PE1 11 +NX_Q96A32 169 19015 4.91 0 NA NA PE1 16 +NX_Q96A33 483 55874 4.76 1 Endoplasmic reticulum;Membrane NA PE1 17 +NX_Q96A35 216 24915 9.33 0 Mitochondrion NA PE1 1 +NX_Q96A37 237 26122 8.42 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 16 +NX_Q96A44 273 30179 9.39 0 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus NA PE1 3 +NX_Q96A46 364 39272 8.86 6 Mitochondrion inner membrane NA PE1 10 +NX_Q96A47 359 39768 8.64 0 Cytoplasm;Nucleus NA PE1 15 +NX_Q96A49 352 39933 4.45 0 Perikaryon;Golgi apparatus;Dendrite;Nucleoplasm;Axon;Cytosol;Perinuclear region;Postsynaptic cell membrane;Presynaptic cell membrane;Membrane;Growth cone NA PE1 X +NX_Q96A54 375 42616 6.53 7 Cell membrane NA PE1 1 +NX_Q96A56 240 27366 4.75 0 Cytosol;PML body;Nucleus;Autophagosome NA PE1 8 +NX_Q96A57 120 13188 9.3 2 Late endosome;Early endosome;Endoplasmic reticulum;Autophagosome;trans-Golgi network;Membrane;Recycling endosome;Synaptic vesicle Parkinson disease PE1 20 +NX_Q96A58 199 22608 6.91 0 Cytoplasm NA PE1 12 +NX_Q96A59 401 44911 8.84 4 Cytoplasmic vesicle;Cytoskeleton;Tight junction;Membrane NA PE1 16 +NX_Q96A61 297 34653 4.14 0 Cytoskeleton;Nucleolus NA PE1 5 +NX_Q96A65 974 110498 6.07 0 Nucleolus;Cytoplasm;Nucleus;Cell projection;Midbody ring NA PE1 7 +NX_Q96A70 460 49980 5.4 0 Axon;Perikaryon;Cytoplasmic granule;Cytoplasm;cis-Golgi network;Cytoplasmic vesicle;Dendrite;Perinuclear region;Nucleus;trans-Golgi network;Membrane;Endoplasmic reticulum-Golgi intermediate compartment NA PE1 1 +NX_Q96A72 148 17276 5.96 0 Nucleus NA PE1 12 +NX_Q96A73 305 33247 9.39 0 Nucleoplasm;Cytoplasm NA PE1 5 +NX_Q96A83 441 45381 7.02 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 7 +NX_Q96A84 441 45292 9.31 0 Extracellular matrix NA PE1 22 +NX_Q96A98 100 11202 11.83 0 Secreted NA PE1 19 +NX_Q96A99 478 52339 9.64 0 Cytosol;Secreted NA PE2 16 +NX_Q96AA3 541 60335 9.07 12 Cytoplasmic vesicle;Membrane Congenital disorder of glycosylation 1N PE1 3 +NX_Q96AA8 810 94934 5.88 0 Golgi apparatus NA PE1 5 +NX_Q96AB3 205 22337 7.67 0 Cytosol;Cytoplasm;Mitochondrion;Nucleus NA PE1 19 +NX_Q96AB6 310 34677 5.82 0 Nucleoplasm;Cytoplasm;Golgi apparatus NA PE1 16 +NX_Q96AC1 680 77861 6.26 0 Stress fiber;Nucleoplasm;Cytoplasm;Cell cortex;I band;Focal adhesion;Nucleus;Lamellipodium membrane;Membrane;Cell surface;Cytoskeleton NA PE1 14 +NX_Q96AC6 838 90147 9.62 0 Cytosol;Nucleoplasm;Cytoskeleton NA PE1 8 +NX_Q96AD5 504 55316 6.65 1 Nucleoplasm;Lipid droplet;Cell membrane Neutral lipid storage disease with myopathy PE1 11 +NX_Q96AE4 644 67560 7.18 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q96AE7 1141 129558 6.11 0 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA PE1 11 +NX_Q96AG3 418 46174 6.97 6 Mitochondrion;Mitochondrion outer membrane Neuropathy, hereditary motor and sensory, 6B PE1 5 +NX_Q96AG4 307 34930 9.61 1 Endoplasmic reticulum membrane;Microsome membrane;Nucleus envelope;Endoplasmic reticulum NA PE1 17 +NX_Q96AH0 204 22423 9.63 0 Nucleoplasm;Cytosol;Nucleus NA PE1 2 +NX_Q96AH8 199 22511 6.31 0 Late endosome;Golgi apparatus;Lysosome;Phagosome;trans-Golgi network;Phagosome membrane NA PE1 1 +NX_Q96AJ1 413 48125 4.68 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cilium NA PE1 16 +NX_Q96AJ9 217 25218 6.06 1 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus NA PE1 10 +NX_Q96AK3 386 46598 8.73 0 Cytoplasm;P-body NA PE1 22 +NX_Q96AM1 343 38171 8.96 7 Nucleus membrane;Cell membrane NA PE1 11 +NX_Q96AN5 459 51715 9.69 2 Nucleolus;Membrane NA PE1 19 +NX_Q96AP0 544 57733 6.29 0 Nucleus;Telomere Dyskeratosis congenita, autosomal recessive, 7;Dyskeratosis congenita, autosomal dominant, 6 PE1 16 +NX_Q96AP4 578 65959 6.05 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 6 +NX_Q96AP7 390 41176 9.42 1 Adherens junction;Cytoskeleton;Cell membrane;Tight junction NA PE1 11 +NX_Q96AQ1 378 41605 10.52 0 Nucleus NA PE1 2 +NX_Q96AQ2 219 22172 8.32 4 Cytosol;Midbody;Membrane NA PE2 1 +NX_Q96AQ6 731 80643 5.21 0 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Nucleus NA PE1 1 +NX_Q96AQ7 238 26754 8.95 0 Lipid droplet;Nucleus;Endoplasmic reticulum Lipodystrophy, familial partial, 5 PE1 3 +NX_Q96AQ8 359 39694 9.67 2 Mitochondrion inner membrane NA PE1 6 +NX_Q96AQ9 280 30351 4.51 0 Cytosol;Cytoskeleton;Nucleolus NA PE1 1 +NX_Q96AT1 154 17465 5.86 0 Cytoskeleton;Nucleus NA PE1 3 +NX_Q96AT9 228 24928 5.33 0 NA NA PE1 2 +NX_Q96AV8 911 99888 8.33 0 Nucleus speckle;Nucleus NA PE1 12 +NX_Q96AW1 172 19224 8.77 1 Cytoplasmic vesicle membrane;Golgi apparatus NA PE1 7 +NX_Q96AX1 596 67611 6.5 0 Lysosome membrane;Nucleoplasm;Cytoplasmic vesicle;Late endosome membrane;Autophagosome;Early endosome;Clathrin-coated vesicle Mucopolysaccharidosis-plus syndrome PE1 12 +NX_Q96AX2 223 24815 5.98 0 Cytoplasmic vesicle NA PE1 17 +NX_Q96AX9 1013 109939 8.81 0 Cytoplasm;Endosome NA PE1 1 +NX_Q96AY2 570 63252 6.7 0 Cytosol;Nucleolus;Nucleus NA PE1 17 +NX_Q96AY3 582 64245 5.36 0 Cytoplasmic vesicle;Endoplasmic reticulum lumen Bruck syndrome 1;Osteogenesis imperfecta 11 PE1 17 +NX_Q96AY4 2481 270884 6.42 0 Nucleolus;Spindle pole;Centrosome;Midbody;Mitochondrion;Spindle;Cytoskeleton NA PE1 22 +NX_Q96AZ1 226 24911 5.29 0 Nucleoplasm;Cytoplasm;Nucleus;Centrosome;Golgi apparatus NA PE1 12 +NX_Q96AZ6 181 20363 9.09 0 Cytoplasm;Nucleolus;Nucleus;Cajal body NA PE1 15 +NX_Q96B01 352 38457 9.18 0 Nucleus NA PE1 12 +NX_Q96B02 151 17331 7.64 0 Nucleolus;Nucleus NA PE1 8 +NX_Q96B18 629 64949 10.38 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 19 +NX_Q96B21 275 31826 6.45 7 Cytosol;Nucleoplasm;Membrane NA PE1 11 +NX_Q96B23 404 43395 4.77 0 Cytosol;Nucleoplasm NA PE1 18 +NX_Q96B26 276 30040 5.17 0 Mitochondrion;Cytoplasm;Nucleolus;Nucleus Pontocerebellar hypoplasia 1C PE1 13 +NX_Q96B33 292 31915 7.51 4 Nucleus;Tight junction;Cell membrane NA PE1 8 +NX_Q96B36 256 27383 4.65 0 Cytosol NA PE1 19 +NX_Q96B42 140 16265 9.35 3 Mitochondrion;Cytoplasm;Nucleus membrane NA PE1 2 +NX_Q96B45 105 11564 6.27 0 Cytosol;Nucleus speckle;Lysosome membrane NA PE1 10 +NX_Q96B49 74 8002 4.66 0 Mitochondrion;Mitochondrion outer membrane NA PE1 6 +NX_Q96B54 188 20481 4.14 0 Mitochondrion;Nucleolus NA PE1 19 +NX_Q96B67 414 46395 6.16 0 Cytoplasm;Endosome;Lysosome;Cell membrane;Early endosome NA PE1 5 +NX_Q96B70 501 53167 8.01 0 Nucleolus NA PE1 19 +NX_Q96B77 213 24893 9.9 2 Mitochondrion;Cell junction;Membrane NA PE1 16 +NX_Q96B86 450 49347 7.18 0 Nucleoplasm;Cytosol;Cell membrane;Endoplasmic reticulum NA PE1 15 +NX_Q96B96 161 17522 5.05 3 Cytoplasmic vesicle;Membrane NA PE1 16 +NX_Q96B97 665 73126 6.24 0 Synaptosome;Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Cytoskeleton;Cytoplasmic vesicle membrane NA PE1 X +NX_Q96BA8 519 57005 5.03 1 Endoplasmic reticulum membrane;Cytosol;Nucleus;Cell membrane Osteogenesis imperfecta 16 PE1 11 +NX_Q96BD0 722 77193 8.15 12 Cell junction;Cell membrane NA PE1 20 +NX_Q96BD5 680 74854 9.51 0 Nucleus NA PE1 11 +NX_Q96BD6 273 30942 8.34 0 Cytosol;Cytoplasm NA PE1 1 +NX_Q96BD8 255 29484 6.68 0 Kinetochore;Spindle;Cytoskeleton NA PE1 18 +NX_Q96BF3 282 30675 9.13 1 Cell membrane NA PE1 19 +NX_Q96BF6 587 62837 5.64 0 Mitochondrion;Nucleolus;Nucleus NA PE1 9 +NX_Q96BH1 459 51219 6.1 0 Nucleoplasm;Cytosol NA PE1 2 +NX_Q96BH3 223 26106 6.2 0 Secreted NA PE1 19 +NX_Q96BI1 424 44846 9.66 10 Apical cell membrane Lung cancer;Rhabdomyosarcoma, embryonal, 1 PE1 11 +NX_Q96BI3 265 28996 7.74 7 Endoplasmic reticulum membrane;Golgi stack membrane NA PE1 1 +NX_Q96BJ3 306 35023 6.13 0 Cytosol;Cytoskeleton NA PE1 1 +NX_Q96BJ8 720 81467 5.94 0 Cytoplasm;Cell junction;Cell membrane NA PE1 16 +NX_Q96BK5 328 37035 9.61 0 Kinetochore;Nucleolus;Nucleus;Telomere NA PE1 8 +NX_Q96BM0 104 9549 9.7 3 Membrane NA PE1 14 +NX_Q96BM1 317 34295 9.59 0 NA NA PE1 14 +NX_Q96BM9 186 21416 7.63 0 Late endosome membrane;Lysosome membrane NA PE1 1 +NX_Q96BN2 335 37382 6.92 0 Nucleoplasm;Cytosol;Focal adhesion;Nucleus NA PE1 1 +NX_Q96BN6 582 64618 6.3 0 Nucleoplasm NA PE1 10 +NX_Q96BN8 352 40263 5.35 0 Mitochondrion;Cytoplasm;Cell membrane Autoinflammation, panniculitis, and dermatosis syndrome PE1 5 +NX_Q96BP2 118 13475 10.24 0 Mitochondrion;Nucleoplasm;Nucleolus;Nucleus NA PE1 10 +NX_Q96BP3 646 73575 6.7 0 Nucleus NA PE1 5 +NX_Q96BQ1 224 24963 9.42 0 Secreted NA PE1 3 +NX_Q96BQ3 446 52265 8.24 0 NA NA PE1 2 +NX_Q96BQ5 260 30834 9.26 0 Nucleolus;Nucleus NA PE1 5 +NX_Q96BR1 496 57108 6.45 0 Cytoplasmic vesicle;Nucleoplasm;Recycling endosome;Early endosome NA PE1 8 +NX_Q96BR5 231 25709 5.66 0 Mitochondrion;Nucleus;Mitochondrion intermembrane space NA PE1 1 +NX_Q96BR6 464 52597 9.06 0 Nucleolus;Nucleus NA PE1 1 +NX_Q96BR9 441 50141 6.81 0 Nucleus speckle;Focal adhesion;Nucleus NA PE1 1 +NX_Q96BS2 214 24750 4.84 0 Cytosol;Cytoplasm;Cell membrane;Nucleus;Ruffle membrane;Membrane;Lamellipodium NA PE1 12 +NX_Q96BT1 292 33461 10.19 0 NA NA PE2 3 +NX_Q96BT3 561 60423 6.14 0 Kinetochore;Nucleus;Centromere NA PE1 16 +NX_Q96BT7 664 75208 8.21 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 11 +NX_Q96BU1 408 45582 5.02 0 Nucleus speckle;Nucleus NA PE1 1 +NX_Q96BV0 537 59752 10.23 0 Nucleus NA PE1 7 +NX_Q96BW1 309 33786 5.71 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 X +NX_Q96BW5 349 39018 6.07 0 Cytosol;Nucleoplasm NA PE1 10 +NX_Q96BW9 452 51067 8.23 0 Cytosol;Mitochondrion inner membrane NA PE1 3 +NX_Q96BX8 217 25464 8.81 0 NA NA PE1 19 +NX_Q96BY2 351 39513 5.21 0 Cytoplasm;Nucleus;Cell junction NA PE1 14 +NX_Q96BY6 2186 249531 6.72 0 Cytosol;Cytoplasm;Nucleus;Dendritic spine;Nucleoplasm NA PE1 2 +NX_Q96BY7 2078 232763 5.49 0 Nucleoplasm;Lipid droplet;Preautophagosomal structure membrane NA PE1 14 +NX_Q96BY9 339 36975 7.5 1 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum NA PE1 8 +NX_Q96BZ4 506 55626 8.61 1 Membrane NA PE1 14 +NX_Q96BZ8 264 30529 9.68 0 Nucleus;Cell membrane NA PE1 19 +NX_Q96BZ9 403 45855 6.37 2 Membrane Warburg micro syndrome 4 PE1 20 +NX_Q96C00 473 50602 6.29 0 Mitochondrion;Nucleolus;Nucleus NA PE1 6 +NX_Q96C01 138 15641 7.56 0 Mitochondrion NA PE1 2 +NX_Q96C03 454 49269 5.01 1 Mitochondrion outer membrane NA PE1 17 +NX_Q96C10 678 76613 6.98 0 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus NA PE1 17 +NX_Q96C11 551 59993 5.9 0 Nucleoplasm;Cytoplasm;Nucleus Amyotrophic lateral sclerosis PE1 1 +NX_Q96C12 935 97682 6.75 0 Nucleoplasm;Cytosol;Focal adhesion;Cytoplasm ACTH-independent macronodular adrenal hyperplasia 2 PE1 16 +NX_Q96C19 240 26697 5.15 0 Cytosol;Membrane raft NA PE1 1 +NX_Q96C23 342 37766 6.18 0 Nucleoplasm;Cytoplasm NA PE1 2 +NX_Q96C24 671 76024 9.1 0 Cytosol;Cell membrane;Microtubule organizing center;Nucleoplasm;Membrane;Secretory vesicle membrane NA PE1 X +NX_Q96C28 371 43088 9.73 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q96C34 613 67643 5.84 0 Cytosol;Nucleus speckle NA PE1 17 +NX_Q96C36 320 33637 7.66 0 Mitochondrion;Cytoplasm Leukodystrophy, hypomyelinating, 10 PE1 1 +NX_Q96C45 1275 142442 5.9 0 Mitochondrion;Cytosol;Nucleoplasm NA PE1 3 +NX_Q96C55 264 28709 9.07 0 Nucleus NA PE1 19 +NX_Q96C57 262 28171 9.44 0 Nucleolus;Nucleus;Nucleus envelope;Golgi apparatus NA PE1 12 +NX_Q96C74 230 26107 7.62 0 Flagellum;Cilium NA PE1 5 +NX_Q96C86 337 38609 5.93 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Al-Raqad syndrome PE1 11 +NX_Q96C90 147 15911 4.75 0 Cytoplasm NA PE1 11 +NX_Q96C92 435 47961 5.03 0 Endosome;Cytoplasm;Midbody;Early endosome;Recycling endosome;Centrosome;Cilium basal body NA PE1 9 +NX_Q96CA5 298 32798 5.43 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Microtubule organizing center NA PE1 20 +NX_Q96CB5 159 18380 10.91 0 Nucleoplasm;Nucleus NA PE2 8 +NX_Q96CB8 462 48808 9.72 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA PE1 4 +NX_Q96CB9 384 43089 8.47 0 Mitochondrion NA PE1 1 +NX_Q96CC6 855 97401 8.8 7 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 16 +NX_Q96CD0 374 40516 6.96 0 Golgi apparatus NA PE1 16 +NX_Q96CD2 204 22395 5.72 0 Cytosol NA PE1 15 +NX_Q96CE8 201 22277 7.4 4 Cytoplasmic vesicle;Nucleolus;Membrane NA PE2 3 +NX_Q96CF2 233 26411 5.83 0 Cytosol;Late endosome membrane;Midbody ring NA PE1 8 +NX_Q96CG3 184 21445 5.04 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 4 +NX_Q96CG8 243 26224 8.31 0 Nucleoplasm;Extracellular matrix Barrett esophagus PE1 8 +NX_Q96CH1 333 36580 8.55 7 Cell membrane NA PE2 7 +NX_Q96CJ1 260 28792 5.04 0 Nucleus speckle NA PE1 3 +NX_Q96CK0 615 67235 6.53 0 Nucleus NA PE1 19 +NX_Q96CM3 377 42205 9.9 0 Mitochondrion;Mitochondrion matrix;Nucleoplasm NA PE1 11 +NX_Q96CM4 212 23943 4.72 0 Nucleus outer membrane NA PE1 19 +NX_Q96CM8 615 68125 7.5 0 Mitochondrion;Cytosol;Cytoskeleton;Nucleoplasm NA PE1 17 +NX_Q96CN4 794 91376 5.25 0 Nucleus NA PE1 19 +NX_Q96CN5 670 75951 5.95 0 Cytosol;Nucleoplasm;Centrosome;Cell membrane NA PE1 17 +NX_Q96CN7 298 32237 6.96 0 Cytoplasmic vesicle;Cytoplasm;Endoplasmic reticulum NA PE1 5 +NX_Q96CN9 775 87811 5.35 0 Cytosol;Cytoplasm;Golgi apparatus membrane;Golgi apparatus;Cell membrane NA PE1 7 +NX_Q96CP2 140 14564 8.6 0 Nucleus NA PE1 16 +NX_Q96CP6 724 80680 6.29 1 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA PE1 19 +NX_Q96CP7 247 28548 9.54 4 Cytoplasm;Cell membrane NA PE1 17 +NX_Q96CQ1 311 34283 8.8 6 Cytosol;Nucleus;Mitochondrion;Mitochondrion inner membrane NA PE1 3 +NX_Q96CS2 278 31863 5.41 0 Cytosol;Cytoplasm;Spindle;Centrosome;Spindle pole NA PE1 18 +NX_Q96CS3 445 52623 5.46 0 Cytoplasm;Lipid droplet;Endoplasmic reticulum NA PE1 5 +NX_Q96CS4 500 56907 9.89 0 Nucleolus;Nucleus NA PE1 16 +NX_Q96CS7 222 24736 5.15 0 Recycling endosome membrane NA PE1 2 +NX_Q96CT2 875 94228 6.73 0 Mitochondrion;Cytosol NA PE1 2 +NX_Q96CT7 223 25835 9.54 0 Cytosol;Centrosome;Cell membrane;Midbody NA PE1 19 +NX_Q96CU9 486 53812 7.66 1 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency PE1 11 +NX_Q96CV9 577 65922 5.12 0 Golgi apparatus;Cytosol;Cytoplasmic vesicle;Perinuclear region;Autophagosome;trans-Golgi network;Recycling endosome Amyotrophic lateral sclerosis 12;Glaucoma, normal pressure;Glaucoma 1, open angle, E PE1 10 +NX_Q96CW1 435 49655 9.57 0 Coated pit;Cell membrane NA PE1 3 +NX_Q96CW5 907 103571 8.35 0 Centrosome NA PE1 13 +NX_Q96CW6 309 35028 4.52 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 16 +NX_Q96CW9 530 59799 6.13 0 Nucleolus;Cytosol;Midbody ring;Cell membrane;Nucleus;Cytoskeleton NA PE1 9 +NX_Q96CX2 325 35701 5.51 0 Mitochondrion;Postsynaptic cell membrane;Presynaptic cell membrane NA PE1 13 +NX_Q96CX3 271 31179 9.39 0 Nucleus;Endoplasmic reticulum NA PE1 3 +NX_Q96CX6 371 40586 6.41 0 Cytosol;Nucleus NA PE1 3 +NX_Q96D03 193 21740 7.49 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Cell membrane NA PE1 4 +NX_Q96D05 121 13238 11.58 1 Cytosol;Nucleus;Centrosome;Membrane NA PE1 10 +NX_Q96D09 838 93773 4.96 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 X +NX_Q96D15 328 37493 4.74 0 Cytoplasmic vesicle;Endoplasmic reticulum lumen;Endoplasmic reticulum NA PE1 19 +NX_Q96D21 266 30366 9.09 0 Cytosol;Cell membrane NA PE1 22 +NX_Q96D31 301 32668 8.45 4 Cytosol;Cell membrane Immunodeficiency 9;Myopathy, tubular aggregate, 2 PE1 12 +NX_Q96D42 359 38720 6.44 1 Cytoplasmic vesicle;Membrane NA PE1 5 +NX_Q96D46 503 57603 6.76 0 Cytoplasm;Nucleolus;Nucleus NA PE1 3 +NX_Q96D53 544 60069 6.84 1 Cytosol;Mitochondrion;Cell membrane;Mitochondrion membrane Nephrotic syndrome 9 PE1 19 +NX_Q96D59 192 21617 7.59 1 Endoplasmic reticulum membrane;cis-Golgi network membrane;Lysosome membrane;Endoplasmic reticulum NA PE1 9 +NX_Q96D70 268 30350 8.82 0 Cytosol;Nucleus NA PE1 19 +NX_Q96D71 796 86662 5.45 0 Cytosol;Cytoplasmic vesicle;Clathrin-coated pit;Cell membrane Neurodegeneration with brain iron accumulation 7 PE1 6 +NX_Q96D96 273 31683 6.33 4 Cell membrane;Membrane NA PE1 12 +NX_Q96D98 161 16985 4.67 0 Nucleus NA PE1 19 +NX_Q96DA0 208 22739 6.74 0 Cytoplasmic vesicle;Nucleoplasm;Secreted NA PE1 16 +NX_Q96DA2 213 24622 7.69 0 Cytoplasmic vesicle membrane;Cell membrane;Golgi apparatus Waisman syndrome;Mental retardation, X-linked 72 PE1 X +NX_Q96DA6 116 12499 10.1 1 Mitochondrion inner membrane 3-methylglutaconic aciduria 5 PE1 3 +NX_Q96DB2 347 39183 7.17 0 Nucleus;Cell membrane NA PE1 3 +NX_Q96DB5 314 35808 8.64 0 Cytoplasm;Cytoskeleton;Centrosome;Spindle;Spindle pole NA PE1 8 +NX_Q96DB9 178 19472 5.51 1 Endoplasmic reticulum;Cell membrane;Membrane NA PE1 19 +NX_Q96DC7 493 54442 5.58 2 Mitochondrion;Nucleoplasm;Membrane NA PE1 5 +NX_Q96DC8 303 32634 8.9 0 Mitochondrion;Nucleolus;Nucleus NA PE1 10 +NX_Q96DC9 234 27213 5.81 0 NA NA PE1 14 +NX_Q96DD0 335 38793 5.99 0 M line NA PE1 1 +NX_Q96DD7 197 21522 8.21 1 Membrane NA PE1 1 +NX_Q96DE0 195 21273 6.38 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA PE1 3 +NX_Q96DE5 110 11667 4.91 0 Cytosol;Kinetochore;Nucleus;Cytoplasm NA PE1 10 +NX_Q96DE9 158 17780 6.43 0 NA NA PE2 X +NX_Q96DF8 476 52568 7.06 0 Nucleoplasm;Nucleus NA PE1 22 +NX_Q96DG6 245 28048 6.71 0 Cytosol NA PE1 5 +NX_Q96DH6 328 35197 8.62 0 Cytosol;Cytoplasm NA PE1 17 +NX_Q96DI7 357 39311 8.34 0 Nucleus speckle;Nucleus NA PE1 1 +NX_Q96DL1 559 64901 8.85 1 Membrane NA PE1 11 +NX_Q96DM1 585 67004 9.29 0 Nucleoplasm;Centrosome NA PE1 15 +NX_Q96DM3 657 74975 7.89 0 Lysosome membrane;Late endosome membrane;Nucleus NA PE1 18 +NX_Q96DN0 273 30480 4.57 0 Endoplasmic reticulum lumen NA PE1 12 +NX_Q96DN2 955 99915 6.06 0 Cytosol;Cytoplasmic vesicle;Nucleus;Secreted NA PE1 11 +NX_Q96DN5 1066 124189 8.84 0 Centrosome NA PE1 8 +NX_Q96DN6 1003 101201 9.72 0 Nucleus;Chromosome NA PE1 12 +NX_Q96DP5 389 43832 9.7 0 Mitochondrion;Cytosol;Nucleoplasm Combined oxidative phosphorylation deficiency 15;Leigh syndrome PE1 15 +NX_Q96DR4 205 23517 5.12 0 Cell membrane NA PE1 5 +NX_Q96DR5 249 27011 5.35 0 Secreted NA PE1 20 +NX_Q96DR7 871 97346 9.07 0 Cytosol;Nucleoplasm;Ruffle;Cell membrane NA PE1 3 +NX_Q96DR8 90 9039 4.41 0 Secreted;Membrane NA PE1 12 +NX_Q96DS6 147 15909 8.48 2 Membrane NA PE2 11 +NX_Q96DT0 336 37542 9.3 0 Nucleus NA PE1 11 +NX_Q96DT5 4516 520369 6.03 0 Cilium axoneme Ciliary dyskinesia, primary, 7 PE1 7 +NX_Q96DT6 458 52497 5.65 0 Cytosol;Nucleoplasm;Cytoplasm NA PE1 1 +NX_Q96DT7 871 94894 5.05 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q96DU3 332 37345 6.32 1 Cell membrane NA PE1 1 +NX_Q96DU7 683 75207 5.03 0 Cytoplasm;Nucleus;Nucleus speckle Kawasaki disease PE1 19 +NX_Q96DU9 382 43331 9.55 0 Mitochondrion matrix;Cytoplasm NA PE1 X +NX_Q96DV4 380 44597 7.19 0 Mitochondrion NA PE1 17 +NX_Q96DW6 304 33566 9.57 6 Mitochondrion inner membrane Anemia, sideroblastic, 2, pyridoxine-refractory PE1 3 +NX_Q96DX4 576 64180 5.35 0 Secreted Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type PE1 16 +NX_Q96DX5 294 31858 6.48 0 Mitochondrion NA PE1 X +NX_Q96DX7 344 38472 4.16 0 Cytoplasmic vesicle;Cell membrane Aniridia 3 PE1 11 +NX_Q96DX8 246 27863 8.56 1 Nucleus;Membrane NA PE1 3 +NX_Q96DY2 449 52359 9.26 0 Flagellum axoneme;Nucleus NA PE1 12 +NX_Q96DY7 904 102193 7.91 0 Nucleus NA PE1 8 +NX_Q96DZ1 483 54858 5.88 0 Endoplasmic reticulum lumen NA PE1 2 +NX_Q96DZ5 547 59560 7.93 0 Cytoplasm;Cell membrane;Golgi apparatus;Golgi stack NA PE1 19 +NX_Q96DZ7 209 22433 8.87 4 Membrane NA PE2 3 +NX_Q96DZ9 223 24653 6.13 4 Cytoplasmic vesicle;Golgi apparatus;Membrane NA PE1 14 +NX_Q96E09 287 30529 6.32 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q96E11 262 29277 9.8 0 Mitochondrion;Cytoskeleton NA PE1 9 +NX_Q96E14 147 15865 7.76 0 Cytosol;Nucleus speckle;Nucleus NA PE1 16 +NX_Q96E16 107 12439 5.37 1 Membrane NA PE1 8 +NX_Q96E17 227 25952 5.09 0 Cytosol;Cell membrane NA PE1 5 +NX_Q96E22 293 33224 8.81 3 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cell membrane Congenital disorder of glycosylation 1AA;Mental retardation, autosomal dominant 55, with seizures PE1 6 +NX_Q96E29 417 47971 8.6 0 Mitochondrion;Nucleoplasm NA PE1 8 +NX_Q96E35 227 26433 6.4 0 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus;Cell membrane NA PE1 9 +NX_Q96E39 390 42142 9.9 0 Nucleus NA PE1 1 +NX_Q96E40 222 25166 9.3 0 Flagellum;Acrosome;Cytoplasm;Nucleus;Mitochondrion;Cilium basal body NA PE1 9 +NX_Q96E52 524 60120 9.36 2 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA PE1 1 +NX_Q96E66 192 22206 9.38 0 Cytoplasm;Cytoskeleton;Nucleolus NA PE1 11 +NX_Q96E93 195 21831 5.27 1 Cytoplasmic vesicle;Cell membrane NA PE1 12 +NX_Q96EA4 605 70172 5.41 0 Kinetochore;Cytosol;Nucleus;Centrosome;Spindle pole NA PE1 5 +NX_Q96EB1 424 46588 8.75 0 Nucleoplasm;Cytoplasm;Nucleus Aniridia 2 PE1 11 +NX_Q96EB6 747 81681 4.55 0 Cytosol;Cytoplasm;Mitochondrion;Nucleus;PML body NA PE1 10 +NX_Q96EC8 236 26256 5.46 5 Cytoplasmic vesicle;Golgi apparatus membrane;Endoplasmic reticulum NA PE1 X +NX_Q96ED9 719 83207 5.36 0 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Cytosol;Centrosome NA PE1 19 +NX_Q96EE3 360 39649 8.34 0 Kinetochore;Nuclear pore complex;Lysosome membrane NA PE1 18 +NX_Q96EE4 140 15668 9.87 0 Nucleoplasm;Secreted NA PE1 7 +NX_Q96EF0 704 78919 6.2 0 Nucleus envelope NA PE1 X +NX_Q96EF6 278 31479 8.46 0 NA NA PE1 19 +NX_Q96EF9 292 33285 6.61 0 NA NA PE2 8 +NX_Q96EG1 525 57061 6.16 0 Lysosome NA PE1 17 +NX_Q96EG3 531 58078 9.52 0 Nucleolus;Nucleus NA PE1 19 +NX_Q96EH3 234 26170 5.32 0 Mitochondrion matrix;Mitochondrion NA PE1 7 +NX_Q96EH5 51 6293 12.41 0 NA NA PE1 3 +NX_Q96EH8 262 28789 8.36 0 NA NA PE2 2 +NX_Q96EI5 215 24647 5.16 0 Nucleus NA PE1 X +NX_Q96EK2 531 57455 9.43 0 Nucleolus;Nucleus NA PE1 22 +NX_Q96EK4 314 34455 9.18 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA PE1 16 +NX_Q96EK5 621 71814 5.34 0 Cytoskeleton Goldberg-Shprintzen syndrome PE1 10 +NX_Q96EK6 184 20749 8.17 0 Endosome membrane;Golgi apparatus membrane NA PE1 14 +NX_Q96EK7 910 103783 5.49 0 Nucleoplasm;Cytosol;Nucleus NA PE1 6 +NX_Q96EK9 354 38616 6.47 0 Cytosol;Nucleus speckle NA PE1 1 +NX_Q96EL1 285 31328 5.28 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus NA PE1 3 +NX_Q96EL2 167 19015 9.48 0 Nucleoplasm;Cytoplasmic vesicle;Mitochondrion NA PE1 7 +NX_Q96EL3 112 12107 9.05 0 Mitochondrion;Nucleolus NA PE1 2 +NX_Q96EM0 354 38138 6.2 0 Cytoplasmic vesicle NA PE1 14 +NX_Q96EN8 888 98120 6.23 0 Cytosol;Mitochondrion Xanthinuria 2 PE1 18 +NX_Q96EN9 201 22599 6.47 0 Cytoplasmic vesicle NA PE1 19 +NX_Q96EP0 1072 119652 6.14 0 Cytosol;Cytoplasm NA PE1 14 +NX_Q96EP1 664 73386 5.71 0 PML body;Cytoskeleton;Nucleus NA PE1 12 +NX_Q96EP5 407 43383 8.73 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 19 +NX_Q96EP9 437 46504 5.09 7 Cell membrane NA PE1 4 +NX_Q96EQ0 304 33429 4.8 0 Nucleus NA PE1 5 +NX_Q96EQ8 232 26454 6.74 0 Cytosol;Nucleolus;Golgi apparatus membrane;Golgi apparatus Tenorio syndrome PE1 18 +NX_Q96ER3 474 53558 4.38 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q96ER9 411 45811 8.3 2 Nucleoplasm;Mitochondrion;Centrosome;Membrane NA PE1 3 +NX_Q96ES6 412 42696 9.34 12 Cytoplasmic vesicle;Membrane NA PE1 8 +NX_Q96ES7 293 33238 8.2 0 Nucleolus;Nucleus NA PE1 16 +NX_Q96ET8 276 31105 9.47 2 Cell membrane;Membrane NA PE1 17 +NX_Q96EU6 259 29823 10.17 0 Nucleolus;Nucleus NA PE1 6 +NX_Q96EU7 318 36382 6.36 1 Cytosol;Membrane Tn polyagglutination syndrome PE1 X +NX_Q96EV2 1170 129986 6.45 0 Nucleoplasm NA PE1 7 +NX_Q96EV8 351 39493 4.59 0 Cytoskeleton;Synaptic vesicle membrane;Cytoplasm;Endoplasmic reticulum;Endosome membrane;Nucleus;Postsynaptic cell membrane;Melanosome membrane;Postsynaptic density;Cytoplasmic vesicle membrane;Midbody Hermansky-Pudlak syndrome 7 PE1 6 +NX_Q96EW2 488 55167 5.38 0 Mitochondrion;Cytoplasm NA PE1 3 +NX_Q96EX1 92 10799 8.01 1 Mitochondrion;Membrane NA PE1 1 +NX_Q96EX2 444 48965 8.08 4 Cytosol;Nucleoplasm;Membrane NA PE1 12 +NX_Q96EX3 536 57801 6.16 0 Cytosol;Cytoplasm;Cilium axoneme;Cilium basal body Short-rib thoracic dysplasia 11 with or without polydactyly PE1 9 +NX_Q96EY1 480 52489 9.37 0 Mitochondrion;Mitochondrion matrix;Postsynaptic cell membrane;Cytosol NA PE1 16 +NX_Q96EY4 203 23864 9.33 0 Nucleolus NA PE1 4 +NX_Q96EY5 273 28783 9.1 0 Endosome;Golgi apparatus;Nucleoplasm;Cytoplasm;Late endosome membrane;Nucleus;Centrosome NA PE1 19 +NX_Q96EY7 689 78550 6 0 Mitochondrion NA PE1 2 +NX_Q96EY8 250 27388 8.86 0 Mitochondrion Methylmalonic aciduria type cblB PE1 12 +NX_Q96EY9 351 38071 8.06 0 Nucleus Mental retardation, autosomal recessive 36 PE1 19 +NX_Q96EZ4 313 33556 9.21 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE2 11 +NX_Q96EZ8 462 51803 9.41 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA PE1 12 +NX_Q96F05 449 46101 5.59 1 Cytoplasmic vesicle;Nucleoplasm;trans-Golgi network membrane;Cell membrane NA PE1 11 +NX_Q96F07 1278 148399 7.03 0 Synaptosome;Cytosol;Cytoplasm;Endoplasmic reticulum;Perinuclear region;Nucleus;Cell membrane Epileptic encephalopathy, early infantile, 65 PE1 5 +NX_Q96F10 170 19155 5.77 0 Cytoplasm NA PE1 17 +NX_Q96F15 307 34846 7.6 1 Lysosome;Mitochondrion outer membrane NA PE1 7 +NX_Q96F24 287 32378 5.61 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm;Nucleus;Autophagosome NA PE1 10 +NX_Q96F25 216 24151 9.13 1 Endoplasmic reticulum membrane;Nucleolus;Nucleus;Nucleus membrane Myasthenic syndrome, congenital, 15 PE1 1 +NX_Q96F44 468 52774 5.5 0 Cytosol;Cytoplasm;Nucleus NA PE1 1 +NX_Q96F45 646 62555 8.94 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA PE1 10 +NX_Q96F46 866 96122 5.06 1 Cytosol;Nucleoplasm;Cell membrane;Secreted Immunodeficiency 51 PE1 22 +NX_Q96F63 343 38947 4.52 0 Nucleoplasm;Cytosol;Cell membrane NA PE1 19 +NX_Q96F81 1524 170934 6.44 12 Nucleus;Membrane NA PE1 1 +NX_Q96F83 325 35690 5.96 0 Nucleoplasm;Cytosol;Nucleus NA PE1 14 +NX_Q96F85 164 18648 7.72 0 Cytosol NA PE1 2 +NX_Q96F86 508 56078 6.65 0 Cytosol;P-body Mental retardation, autosomal recessive 50 PE1 15 +NX_Q96FA3 418 46286 8.33 0 NA NA PE1 2 +NX_Q96FA7 236 26352 7.05 0 Cytoplasmic vesicle;Nucleus membrane NA PE2 7 +NX_Q96FB5 475 52981 8.22 1 Cytosol;Nucleolus;Membrane NA PE1 1 +NX_Q96FC7 376 42486 5.97 0 Mitochondrion;Cytoplasm;Cytosol NA PE1 10 +NX_Q96FC9 970 108313 7.07 0 Nucleolus;Spindle pole;Midbody;Nucleus;Centrosome;Chromosome Warsaw breakage syndrome PE1 12 +NX_Q96FE5 620 69876 8.86 1 Cell membrane NA PE1 15 +NX_Q96FE7 263 28248 4.92 1 Cell membrane NA PE1 22 +NX_Q96FF7 219 24028 10.92 0 NA NA PE1 19 +NX_Q96FF9 252 27601 9.65 0 Nucleoplasm;Cytoplasm;Nucleus;Chromosome NA PE1 11 +NX_Q96FG2 381 43046 8.11 0 Kinocilium;Mitochondrion;Cytoskeleton;Stereocilium;Nucleoplasm Deafness, autosomal recessive, 88 PE1 2 +NX_Q96FH0 119 13403 5.54 0 Nucleoplasm;Cytoplasmic vesicle;Lysosome membrane NA PE1 19 +NX_Q96FI4 390 43684 9.94 0 Nucleoplasm;Nucleus;Centrosome;Chromosome NA PE1 15 +NX_Q96FJ0 436 49783 6.79 0 Cell membrane NA PE1 10 +NX_Q96FJ2 89 10350 6.81 0 Cytoskeleton NA PE1 17 +NX_Q96FK6 387 43215 5.72 0 Cytosol;Cytoskeleton NA PE1 14 +NX_Q96FL8 570 61922 7.53 13 Cell membrane NA PE1 17 +NX_Q96FL9 552 64321 7.84 1 Nucleus;Golgi apparatus membrane;Golgi apparatus NA PE1 2 +NX_Q96FM1 320 36475 6.84 7 Cytosol;Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane Hyperphosphatasia with mental retardation syndrome 4 PE1 17 +NX_Q96FN4 548 61190 5.71 0 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Mitochondrion NA PE1 16 +NX_Q96FN5 646 70660 9.19 0 Nucleoplasm;Cytoskeleton NA PE1 9 +NX_Q96FN9 168 18660 7.71 0 Cytoplasmic vesicle;Cytoplasm NA PE1 14 +NX_Q96FQ6 103 11801 6.28 0 Cytosol;Cytoplasm;Nucleolus;Cell membrane NA PE1 1 +NX_Q96FQ7 95 10201 7.81 0 NA NA PE5 18 +NX_Q96FS4 1042 112149 6.16 0 Nucleolus;Golgi apparatus;Cell membrane;Endomembrane system;Perinuclear region;Nucleus NA PE1 11 +NX_Q96FT7 647 70105 8.04 2 Membrane NA PE1 2 +NX_Q96FT9 208 23529 4.62 0 Cytoskeleton;Cilium;Microtubule organizing center Short-rib thoracic dysplasia 18 with polydactyly;Retinitis pigmentosa 81;Cranioectodermal dysplasia 3 PE1 14 +NX_Q96FV0 321 35340 4.86 0 Cytosol NA PE1 17 +NX_Q96FV2 425 46597 5.44 0 Nucleoplasm;Golgi apparatus NA PE1 17 +NX_Q96FV3 270 30264 4.96 4 Nucleoplasm;Membrane NA PE1 5 +NX_Q96FV9 657 75666 4.92 0 Nucleoplasm;Nucleus speckle;Nucleus matrix;Cytoplasm NA PE1 18 +NX_Q96FW1 271 31284 4.85 0 Cytosol;Cytoplasm;Nucleus NA PE1 11 +NX_Q96FX2 82 9240 3.94 0 Cytoplasm;Nucleus NA PE1 3 +NX_Q96FX7 289 31382 6.89 0 Nucleus NA PE1 14 +NX_Q96FX8 193 21386 6.68 4 Desmosome;Cell membrane NA PE1 6 +NX_Q96FZ2 354 40575 8.43 0 Nucleus NA PE1 3 +NX_Q96FZ5 175 18834 8.23 4 Cell membrane;Membrane NA PE1 3 +NX_Q96FZ7 201 23485 5.28 0 Endosome membrane;Late endosome membrane;Endomembrane system;Membrane NA PE1 17 +NX_Q96G01 975 110750 5.6 0 Cytoplasmic vesicle;Golgi apparatus NA PE1 12 +NX_Q96G03 612 68283 6.28 0 Cytoplasm;Cytoskeleton NA PE1 4 +NX_Q96G04 330 36915 5.7 0 Cytoplasm NA PE1 16 +NX_Q96G21 291 33757 9.49 0 Nucleolus NA PE1 2 +NX_Q96G23 380 44876 9.03 6 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus membrane NA PE1 1 +NX_Q96G25 268 29080 6.92 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 1 +NX_Q96G27 269 29140 5.61 0 Cytosol NA PE1 2 +NX_Q96G28 342 39447 4.93 0 Flagellum;Cytoplasm;Nucleus NA PE1 2 +NX_Q96G30 205 23548 4.92 1 Endoplasmic reticulum membrane;Cell membrane Obesity PE1 6 +NX_Q96G42 594 63314 9.25 0 NA NA PE1 22 +NX_Q96G46 650 72594 8.4 0 Cytosol;Nucleoplasm NA PE1 19 +NX_Q96G61 164 18559 5.73 0 Cytoplasm;Nucleus NA PE1 X +NX_Q96G74 571 60626 6.1 0 Cytosol;Nucleolus;Nucleus NA PE1 X +NX_Q96G75 393 44414 6.15 0 Cytosol;Nucleoplasm NA PE1 5 +NX_Q96G79 324 34593 9.77 9 Nucleoplasm;Golgi apparatus membrane NA PE2 5 +NX_Q96G91 374 40345 9.35 7 Cell membrane NA PE1 19 +NX_Q96G97 398 44392 5.07 2 Endoplasmic reticulum membrane Congenital generalized lipodystrophy 2;Spastic paraplegia 17, autosomal dominant;Neuronopathy, distal hereditary motor, 5A;Encephalopathy, progressive, with or without lipodystrophy PE1 11 +NX_Q96GA3 475 54855 4.8 0 Cytosol;Nucleoplasm NA PE1 6 +NX_Q96GA7 329 34674 6.41 0 Cytosol NA PE1 12 +NX_Q96GC5 212 23935 9.04 0 Mitochondrion NA PE1 11 +NX_Q96GC6 653 74177 6.3 0 Cytoplasm;Nucleolus;Nucleus;Centrosome NA PE1 19 +NX_Q96GC9 406 46238 6.47 7 Nucleolus;Golgi apparatus;Cytoplasm;Vacuole membrane;Cell membrane;Endoplasmic reticulum;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 17 +NX_Q96GD0 296 31698 6.12 0 Cytosol;Cytoskeleton;Ruffle membrane;Cell membrane;Lamellipodium membrane NA PE1 22 +NX_Q96GD3 660 73354 9.37 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q96GD4 344 39311 9.36 0 Nucleoplasm;Nucleus;Spindle;Centromere;Midbody;Chromosome NA PE1 17 +NX_Q96GE4 821 95297 8.76 0 Cytoplasmic vesicle;Nucleoplasm;Spindle;Centrosome;Spindle pole NA PE1 17 +NX_Q96GE5 643 74288 9.29 0 Nucleus NA PE1 19 +NX_Q96GE6 196 21883 7.02 0 Nucleoplasm;Cytosol;Golgi apparatus NA PE1 15 +NX_Q96GE9 116 12257 9.8 2 Mitochondrion inner membrane NA PE1 9 +NX_Q96GF1 192 20459 6.09 2 Endoplasmic reticulum membrane;Mitochondrion outer membrane NA PE1 22 +NX_Q96GG9 259 30124 5.18 0 Cytosol;Nucleus NA PE1 3 +NX_Q96GI7 184 19569 5.64 0 Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus NA PE1 1 +NX_Q96GJ1 504 56476 9.04 0 Nucleoplasm;Nucleus NA PE1 X +NX_Q96GK7 314 34596 8.48 0 NA NA PE1 2 +NX_Q96GL9 167 17641 5.56 1 Membrane NA PE2 1 +NX_Q96GM1 343 36880 9.64 6 Nucleoplasm;Membrane NA PE1 19 +NX_Q96GM5 515 58233 9.31 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 12 +NX_Q96GM8 510 56548 6.76 0 Nucleoplasm;Nucleus speckle;Nucleolus;Nucleus Pontocerebellar hypoplasia 7 PE1 1 +NX_Q96GN5 454 52206 5.59 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 7 +NX_Q96GP6 870 92479 8.89 1 Cytosol;Nucleoplasm;Nucleus;Membrane Van den Ende-Gupta syndrome PE1 22 +NX_Q96GQ5 468 51018 6.47 1 Nucleolus;Golgi apparatus;Cytosol;Cytoplasmic vesicle;Nucleoplasm;Membrane NA PE1 16 +NX_Q96GQ7 796 89835 9.33 0 Nucleolus;Chromosome NA PE1 20 +NX_Q96GR2 724 81290 5.73 0 Cytoplasmic vesicle;Cytoplasm;Microsome;Endoplasmic reticulum NA PE1 15 +NX_Q96GR4 267 30813 6.75 4 Nucleoplasm;Membrane NA PE1 9 +NX_Q96GS4 357 37226 5.56 0 Cytosol;Lysosome membrane;Centrosome NA PE1 17 +NX_Q96GS6 310 33990 6.39 0 Cytoplasmic vesicle;Postsynaptic density;Endosome membrane;Cell membrane;Dendritic spine NA PE1 19 +NX_Q96GT9 111 12354 5.12 0 NA NA PE1 X +NX_Q96GU1 130 14046 4.27 0 Mitochondrion NA PE1 X +NX_Q96GV9 206 23083 9.51 0 Cytoplasm;Cilium NA PE1 5 +NX_Q96GW7 911 99118 4.57 0 Membrane;Extracellular matrix NA PE1 1 +NX_Q96GW9 593 66591 8.38 0 Cytosol;Mitochondrion matrix;Cytoskeleton Spastic ataxia 3, autosomal recessive;Combined oxidative phosphorylation deficiency 25 PE1 2 +NX_Q96GX1 697 76871 5.09 1 Cytoplasmic vesicle;Cilium basal body;Golgi apparatus;Membrane Joubert syndrome 24;Meckel syndrome 8 PE1 12 +NX_Q96GX2 97 10771 4.27 0 Nucleoplasm;Cytoplasm NA PE1 12 +NX_Q96GX5 879 97319 5.67 0 Nucleoplasm;Nucleus;Centrosome;Cleavage furrow NA PE1 10 +NX_Q96GX8 76 8118 4.13 0 Centrosome;Cell membrane NA PE1 16 +NX_Q96GX9 242 27125 6.7 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 11 +NX_Q96GY0 325 35092 9.86 0 Cytosol;Cytoskeleton NA PE1 8 +NX_Q96GY3 246 28383 8.93 0 Nucleoplasm NA PE1 19 +NX_Q96GZ6 507 54767 7.97 10 Cell membrane;Endoplasmic reticulum NA PE1 3 +NX_Q96H12 275 32363 8.58 0 Nucleoplasm;Cytoplasm NA PE1 9 +NX_Q96H15 378 41578 5.75 1 Membrane NA PE1 5 +NX_Q96H20 258 28864 6.2 0 Cytosol;Cytoplasm;Endosome membrane;Nucleoplasm;Late endosome membrane;Nucleus NA PE1 17 +NX_Q96H22 339 39555 9.18 0 Kinetochore;Nucleus NA PE1 16 +NX_Q96H35 190 21649 9.46 0 Nucleolus;Nucleus;Midbody NA PE1 9 +NX_Q96H40 463 53631 9.27 0 Nucleus NA PE1 19 +NX_Q96H55 970 109135 7.87 0 Cytosol;Cytoskeleton;Mitochondrion outer membrane NA PE1 17 +NX_Q96H72 371 39011 5.21 8 Cytosol;Golgi apparatus membrane Ehlers-Danlos syndrome, spondylodysplastic type, 3 PE1 11 +NX_Q96H78 314 35392 9.64 6 Mitochondrion;Nucleus;Mitochondrion inner membrane NA PE1 1 +NX_Q96H79 300 32962 8.5 0 Cytosol NA PE1 7 +NX_Q96H86 408 44943 9.19 0 Cytosol;Nucleus NA PE1 16 +NX_Q96H96 371 40489 9.27 9 Cytosol;Mitochondrion inner membrane Multiple system atrophy 1;Coenzyme Q10 deficiency, primary, 1 PE1 4 +NX_Q96HA1 1249 127720 10.58 1 Endoplasmic reticulum membrane;Nuclear pore complex;Nucleus membrane NA PE1 7 +NX_Q96HA4 380 40283 10.07 1 Cytosol;Nucleolus;Membrane NA PE1 1 +NX_Q96HA7 1378 150929 5.99 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 8 +NX_Q96HA8 205 23680 5.46 0 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 8 +NX_Q96HA9 241 26636 9.35 2 Peroxisome membrane NA PE1 19 +NX_Q96HB5 630 67567 9.51 0 Endosome;Cytoplasm;Centriole;Mitochondrion;Cell projection;Growth cone NA PE1 X +NX_Q96HC4 596 63945 8.55 0 Synaptosome;Nucleoplasm;Cytoplasm;Cell membrane;Focal adhesion;Postsynaptic density NA PE1 4 +NX_Q96HD1 420 45440 4.81 2 Cytosol;Nucleolus;Endoplasmic reticulum;Golgi apparatus;Membrane Atrioventricular septal defect 2 PE1 3 +NX_Q96HD9 319 35241 5.57 0 Cytoplasm;Apical cell membrane NA PE1 11 +NX_Q96HE7 468 54393 5.48 0 Endoplasmic reticulum membrane NA PE1 14 +NX_Q96HE8 216 23077 10.55 4 Cilium;Golgi apparatus;Membrane NA PE2 11 +NX_Q96HE9 360 40085 10.13 0 Cytoplasm;Nucleus;Endoplasmic reticulum NA PE1 17 +NX_Q96HF1 295 33490 7.41 0 Cytoskeleton;Secreted NA PE1 4 +NX_Q96HG1 83 9236 10.36 1 Membrane NA PE1 X +NX_Q96HH4 297 33611 4.76 2 Cytosol;Nucleoplasm;Centrosome;Membrane NA PE1 2 +NX_Q96HH6 336 36392 8.73 6 Membrane NA PE1 12 +NX_Q96HH9 432 47869 8 0 Cytosol;Nucleoplasm;Golgi apparatus NA PE1 5 +NX_Q96HI0 755 86693 9.3 0 Nucleolus NA PE1 3 +NX_Q96HJ3 373 43225 7.06 0 Nucleolus;Nucleus membrane NA PE1 11 +NX_Q96HJ5 214 22933 5.18 4 Perinuclear region;Endomembrane system NA PE1 11 +NX_Q96HJ9 113 12749 10.08 0 Mitochondrion NA PE1 7 +NX_Q96HL8 342 37148 9.18 0 Nucleus NA PE1 2 +NX_Q96HM7 432 49727 9.58 0 Cytoplasmic vesicle;Golgi apparatus NA PE1 12 +NX_Q96HN2 611 66721 7.13 0 Nucleoplasm;Cytoplasm;Cytosol;Microsome NA PE1 7 +NX_Q96HP0 2047 229558 6.28 0 Cytosol;Cytoplasm;Perinuclear region Adams-Oliver syndrome 2 PE1 19 +NX_Q96HP4 312 34854 8.68 0 Nucleus NA PE1 3 +NX_Q96HP8 235 26116 8.83 4 Mitochondrion;Membrane NA PE1 7 +NX_Q96HQ0 510 58564 9.22 0 Nucleus NA PE1 19 +NX_Q96HQ2 116 13196 4.87 0 NA NA PE1 5 +NX_Q96HR3 178 20277 8.45 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q96HR8 494 53717 4.76 0 Cytosol;Cytoplasm;Nucleus NA PE1 4 +NX_Q96HR9 211 23418 8.74 2 Endoplasmic reticulum membrane;Endoplasmic reticulum Retinitis pigmentosa 77 PE1 19 +NX_Q96HS1 289 32004 8.88 1 Mitochondrion;Mitochondrion outer membrane NA PE1 12 +NX_Q96HT8 127 14808 4.46 0 NA NA PE1 4 +NX_Q96HU1 749 85354 5.66 0 Cytoplasm;Golgi apparatus NA PE1 22 +NX_Q96HU8 199 22485 8.98 0 Cell membrane NA PE1 9 +NX_Q96HV5 264 29665 9.23 5 Nucleoplasm;Cytosol;Golgi apparatus;Membrane NA PE1 3 +NX_Q96HW7 963 108171 6 0 Nucleolus;Nucleus NA PE1 11 +NX_Q96HY6 314 35611 5.12 0 Nucleolus;Endoplasmic reticulum Spondyloepimetaphyseal dysplasia, Shohat type PE1 20 +NX_Q96HY7 919 103077 6.46 0 Mitochondrion 2-aminoadipic 2-oxoadipic aciduria;Charcot-Marie-Tooth disease 2Q PE1 10 +NX_Q96HZ4 224 24129 5.18 0 Cytosol;Nucleolus;Nucleus NA PE2 2 +NX_Q96HZ7 61 6513 12.37 0 NA NA PE5 21 +NX_Q96I13 439 47331 6.54 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q96I15 445 48149 6.63 0 Cytosol;Golgi apparatus NA PE1 2 +NX_Q96I23 114 12655 9.45 0 Mitochondrion;Nucleoplasm NA PE1 4 +NX_Q96I24 572 61640 8.6 0 Cytosol;Nucleoplasm;Nucleus NA PE1 9 +NX_Q96I25 401 44962 5.76 0 Nucleoplasm;Nucleus NA PE1 10 +NX_Q96I27 306 34746 9.21 0 Mitochondrion;Nucleus NA PE1 19 +NX_Q96I34 528 57811 5.68 0 Cell membrane NA PE1 8 +NX_Q96I36 57 6600 9.58 1 Mitochondrion;Mitochondrion membrane NA PE1 12 +NX_Q96I45 108 11875 8.69 2 Mitochondrion;Cell junction;Membrane NA PE1 9 +NX_Q96I51 464 49997 8.74 0 Mitochondrion;Cytosol;Nucleus;Mitochondrion inner membrane;Mitochondrion membrane NA PE1 7 +NX_Q96I59 477 54090 6.79 0 Mitochondrion matrix;Nucleoplasm;Mitochondrion;Cytosol Leigh syndrome;Combined oxidative phosphorylation deficiency 24 PE1 11 +NX_Q96I76 525 59338 4.93 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 1 +NX_Q96I82 304 32945 4.67 0 Extracellular matrix NA PE1 10 +NX_Q96I85 54 5742 4.96 0 Secreted NA PE3 14 +NX_Q96I99 432 46511 6.15 0 Mitochondrion;Cell membrane NA PE1 3 +NX_Q96IC2 774 86886 8.64 0 Nucleolus;Nucleus;Nucleus membrane;Endoplasmic reticulum NA PE1 16 +NX_Q96ID5 467 51835 6.48 0 Postsynaptic cell membrane NA PE1 1 +NX_Q96IF1 538 56934 6.86 0 P-body;Golgi apparatus;Cell membrane;Centrosome;Nucleus;Cytoskeleton;Cell junction NA PE1 14 +NX_Q96IG2 436 48423 7.65 0 Cytoplasm;Cytoskeleton NA PE1 17 +NX_Q96II8 777 86083 6.25 0 Cytosol;Secreted NA PE1 3 +NX_Q96IJ6 420 46291 6.73 0 Nucleoplasm;Cytoplasm Alacrima, achalasia, and mental retardation syndrome PE1 2 +NX_Q96IK0 257 28795 9.62 8 Nucleoplasm;Cell membrane;Membrane NA PE1 17 +NX_Q96IK1 185 19196 5.89 0 Kinetochore;Centrosome NA PE1 5 +NX_Q96IK5 515 58685 7.42 0 Nucleus matrix NA PE1 2 +NX_Q96IL0 206 24153 9.99 0 Mitochondrion NA PE1 14 +NX_Q96IM9 177 20586 5.46 0 NA NA PE1 10 +NX_Q96IP4 442 49666 5.03 0 NA Osteogenesis imperfecta 18 PE1 6 +NX_Q96IQ7 327 34348 7.5 1 Nucleoplasm;Membrane NA PE1 11 +NX_Q96IQ9 312 32782 8.02 0 Cytosol;Nucleus NA PE1 19 +NX_Q96IR2 970 113133 9.47 0 Nucleus NA PE1 19 +NX_Q96IR3 41 4679 5.05 0 NA NA PE5 22 +NX_Q96IR7 371 39386 6.55 0 Mitochondrion NA PE1 1 +NX_Q96IS3 184 20086 9.45 0 Nucleus Macular degeneration, age-related, 6;Cone-rod dystrophy 11 PE1 19 +NX_Q96IT1 587 66908 5.48 0 Nucleus;Golgi apparatus NA PE1 1 +NX_Q96IT6 56 6106 10.42 0 NA NA PE5 14 +NX_Q96IU2 234 25132 8.65 0 Nucleoplasm;Cytoplasm;Cell membrane;Membrane NA PE1 5 +NX_Q96IU4 210 22346 5.94 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 3 +NX_Q96IV0 654 74390 6.47 0 Cytoplasm Congenital disorder of deglycosylation PE1 3 +NX_Q96IV6 333 39002 9.01 5 Membrane NA PE1 5 +NX_Q96IW2 340 38264 4.88 0 Cytosol;Microtubule organizing center NA PE1 19 +NX_Q96IW7 307 34948 8.57 4 Endoplasmic reticulum membrane NA PE1 3 +NX_Q96IX5 58 6458 9.78 1 Mitochondrion;Mitochondrion membrane NA PE1 10 +NX_Q96IX9 119 14172 9.1 0 NA NA PE5 1 +NX_Q96IY1 281 32162 6.35 0 Kinetochore;Nucleoplasm;Nucleus;Nucleus speckle NA PE1 1 +NX_Q96IY4 423 48424 7.61 0 Secreted NA PE1 13 +NX_Q96IZ0 340 36568 5.35 0 Cytoplasm;Cytoskeleton;Nucleus;Cell membrane NA PE1 12 +NX_Q96IZ2 230 26842 9.74 6 Nucleolus;Cell membrane NA PE1 6 +NX_Q96IZ5 413 47100 8.85 0 Cytosol;Cytoplasm;Nucleus speckle NA PE1 X +NX_Q96IZ6 378 43537 5.69 0 NA NA PE1 17 +NX_Q96IZ7 334 38677 11.08 0 Cytoplasm;Nucleus;Nucleus speckle NA PE1 3 +NX_Q96J01 351 38772 5.7 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 5 +NX_Q96J02 903 102803 5.94 0 Nucleoplasm;Cytoplasm;Early endosome membrane;Cell membrane;Endosome membrane;Nucleus Autoimmune disease, multisystem, with facial dysmorphism PE1 20 +NX_Q96J42 360 39885 4.77 1 Golgi apparatus;Membrane NA PE1 5 +NX_Q96J65 1359 152297 8.64 10 Membrane NA PE1 16 +NX_Q96J66 1382 154301 8.39 10 Cytoplasmic vesicle membrane;Vacuole membrane;Cell membrane NA PE1 16 +NX_Q96J77 140 15503 9.96 0 NA NA PE1 9 +NX_Q96J84 757 83536 5.49 1 Cell membrane NA PE1 1 +NX_Q96J86 154 16626 8.28 1 Nucleoplasm;Membrane NA PE2 21 +NX_Q96J87 481 50477 8.87 0 Cytosol;Cytoplasm;Nucleus NA PE1 15 +NX_Q96J88 318 36793 9.9 0 Cytosol NA PE1 13 +NX_Q96J92 1243 134739 5.36 0 Tight junction Pseudohypoaldosteronism 2B PE1 17 +NX_Q96J94 861 98603 9.5 0 Cytoplasm NA PE1 12 +NX_Q96JA1 1093 119113 6.66 1 Cytosol;Cell membrane NA PE1 3 +NX_Q96JA3 519 58261 5.03 0 trans-Golgi network membrane;Membrane NA PE1 7 +NX_Q96JA4 679 76580 5.39 4 Membrane NA PE2 11 +NX_Q96JB1 4490 514664 5.95 0 Cilium axoneme NA PE1 6 +NX_Q96JB2 828 94096 5.39 0 Cytosol;Nucleoplasm;Cell membrane;Golgi apparatus;Golgi stack membrane NA PE1 13 +NX_Q96JB3 615 66156 5.95 0 Nucleus NA PE1 22 +NX_Q96JB5 506 56921 4.68 0 Cytosol;Cytoplasm;Nucleus;Centrosome NA PE1 17 +NX_Q96JB6 756 84483 7.32 0 Cytoplasmic vesicle;Extracellular space NA PE1 10 +NX_Q96JB8 637 72779 5.4 0 Cytosol;Cytoplasm;Cytoskeleton NA PE1 2 +NX_Q96JC1 886 101809 6.53 0 Lysosome membrane;Cytoplasm;Late endosome membrane;Late endosome;Lysosome NA PE1 15 +NX_Q96JC4 524 60598 9.21 0 Nucleus NA PE2 7 +NX_Q96JC9 268 29042 5.24 0 Cajal body;Nucleus speckle;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoskeleton NA PE1 3 +NX_Q96JD6 320 36589 7.19 0 Nucleoplasm;Cytoplasm;Golgi apparatus NA PE1 10 +NX_Q96JE7 1060 116604 5.71 0 Endoplasmic reticulum membrane;Cytoskeleton;Golgi apparatus membrane;Endoplasmic reticulum;Cell membrane NA PE1 1 +NX_Q96JE9 813 86505 9.2 0 Golgi apparatus;Cell membrane;Axon;Dendrite;Cytoskeleton;Secretory vesicle membrane NA PE1 11 +NX_Q96JF0 529 60158 9.77 1 Golgi stack membrane;Nucleolus;Nucleus NA PE1 2 +NX_Q96JF6 807 93907 9.01 0 Nucleus NA PE1 17 +NX_Q96JG6 964 111174 5.85 0 Cytosol;Recycling endosome;Cell membrane NA PE1 7 +NX_Q96JG8 741 81378 6.34 0 NA NA PE1 X +NX_Q96JG9 3925 410202 7.88 0 Cytoplasmic vesicle;Nucleus Brittle cornea syndrome 1 PE1 16 +NX_Q96JH7 1222 134321 6.77 0 Cytoplasm;Golgi stack;Endoplasmic reticulum;Cell membrane NA PE1 8 +NX_Q96JH8 1075 117455 6.67 0 Nucleus;Nucleus membrane NA PE1 7 +NX_Q96JI7 2443 278868 5.63 0 Nucleolus;Cytosol;Cell membrane;Axon;Dendrite;Nucleus Charcot-Marie-Tooth disease 2X;Amyotrophic lateral sclerosis 5, juvenile;Spastic paraplegia 11, autosomal recessive PE1 15 +NX_Q96JJ3 720 82615 5.62 0 Cytosol;Cytoplasm;Membrane Vascular malformation, primary intraosseous PE1 20 +NX_Q96JJ6 628 65861 6.39 1 Cytosol;Nucleoplasm;Endoplasmic reticulum membrane;Cell membrane NA PE1 14 +NX_Q96JJ7 454 51872 4.8 1 Endoplasmic reticulum membrane NA PE1 18 +NX_Q96JK2 942 103963 5.48 0 Mitochondrion NA PE1 14 +NX_Q96JK4 782 86731 7.69 0 Secreted NA PE1 14 +NX_Q96JK9 1138 122293 7.12 0 Nucleus speckle NA PE1 4 +NX_Q96JL9 665 75544 8.27 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q96JM2 2506 284688 7.53 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q96JM3 812 89099 8.7 0 Nucleoplasm;Kinetochore;Spindle;Nucleus;Chromosome Mental retardation, autosomal dominant 40 PE1 13 +NX_Q96JM4 1722 199300 5.85 0 NA NA PE1 12 +NX_Q96JM7 780 88337 6.02 0 Nucleolus;Nucleus NA PE1 6 +NX_Q96JN0 433 47007 9.39 0 Nucleoplasm;Nucleus NA PE1 10 +NX_Q96JN2 1154 134045 4.63 1 Acrosome membrane;Nucleolus NA PE1 7 +NX_Q96JN8 1562 166907 5.57 0 Centriole NA PE1 17 +NX_Q96JP0 617 68673 7.6 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 5 +NX_Q96JP2 1530 167088 8.75 0 Cytoplasm NA PE1 17 +NX_Q96JP5 570 63445 7.02 0 Nucleolus;Nucleus NA PE1 11 +NX_Q96JP9 859 93595 5.34 1 Cell membrane Cone-rod dystrophy 15 PE1 10 +NX_Q96JQ0 3298 346181 4.79 1 Cell membrane Mitral valve prolapse 2;Van Maldergem syndrome 1 PE1 11 +NX_Q96JQ2 1002 111651 4.84 1 Cytosol;Nucleus;Membrane NA PE1 14 +NX_Q96JQ5 239 25441 7.63 4 Membrane NA PE2 11 +NX_Q96JS3 809 92515 5.45 0 Cytosol;Nucleoplasm NA PE1 6 +NX_Q96JT2 553 59323 7.44 11 Nucleoplasm;Cytoplasmic vesicle;Membrane NA PE1 1 +NX_Q96JW4 573 62473 5.69 11 Cell membrane;Endoplasmic reticulum NA PE1 12 +NX_Q96JX3 654 74147 7.59 1 Mitochondrion;Endoplasmic reticulum;Membrane 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PE1 6 +NX_Q96JY0 434 49219 8.94 0 Cytoplasm;Nucleus NA PE1 1 +NX_Q96JY6 352 37459 9 0 Cytoplasm;Cytoskeleton;Nucleus;Focal adhesion NA PE1 8 +NX_Q96JZ2 352 39002 6.64 0 Cytosol;Cytoplasm;Focal adhesion;Nucleus;Cell membrane NA PE1 19 +NX_Q96K12 515 59438 9.44 1 Nucleolus;Peroxisome membrane;Golgi apparatus NA PE1 12 +NX_Q96K17 158 17271 5.95 0 Cytosol;Nucleus NA PE1 1 +NX_Q96K19 258 29815 5.34 3 Endoplasmic reticulum membrane;Endoplasmic reticulum Ataxia, sensory, 1, autosomal dominant PE1 8 +NX_Q96K21 471 51546 5.57 0 Midbody ring;Centrosome;Cleavage furrow NA PE1 15 +NX_Q96K30 269 28619 11.07 0 Cytoplasm;Nucleus;Centrosome NA PE1 12 +NX_Q96K31 380 43273 5.31 0 NA NA PE1 8 +NX_Q96K37 410 44773 9.82 9 Golgi apparatus;Membrane NA PE1 19 +NX_Q96K49 555 63536 7.16 7 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus NA PE1 2 +NX_Q96K58 619 67890 9.2 0 Nucleolus;Nucleus NA PE1 16 +NX_Q96K62 511 54008 6.44 0 Cytosol;Nucleus NA PE1 19 +NX_Q96K75 400 45938 9.13 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q96K76 1375 157311 4.97 0 Cytoplasm;Cytoskeleton NA PE1 11 +NX_Q96K78 797 88909 8.77 7 Membrane NA PE1 3 +NX_Q96K80 434 46052 7.58 0 Cytoplasmic vesicle;Nucleus NA PE1 12 +NX_Q96K83 1311 147866 6.56 0 Nucleoplasm;Nucleus NA PE1 18 +NX_Q96KA5 538 62229 8.71 6 Endoplasmic reticulum;Membrane NA PE1 5 +NX_Q96KB5 322 36085 4.98 0 Cytosol NA PE1 8 +NX_Q96KC2 179 20375 6.06 0 NA NA PE1 10 +NX_Q96KC8 554 63883 8.77 1 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum;Nucleus membrane NA PE1 10 +NX_Q96KC9 395 43003 4.07 0 Mitochondrion;Cytoplasm;Flagellum NA PE1 4 +NX_Q96KD3 344 38946 9.51 0 Cytosol NA PE2 7 +NX_Q96KE9 485 53411 5.87 0 Nucleoplasm;Cytoplasm NA PE1 14 +NX_Q96KF2 57 5959 9.9 0 Nucleus NA PE2 17 +NX_Q96KF7 97 11059 9.3 1 Cytoplasmic vesicle;Membrane NA PE1 6 +NX_Q96KG7 1140 122205 6.5 1 Phagocytic cup;Cell membrane Myopathy, early-onset, areflexia, respiratory distress, and dysphagia PE1 5 +NX_Q96KG9 808 89631 5.93 0 Endoplasmic reticulum-Golgi intermediate compartment;Cytosol;Cytoplasm;cis-Golgi network;Nucleus;Centrosome Spinocerebellar ataxia, autosomal recessive, 21 PE1 11 +NX_Q96KH6 178 19680 6.12 0 NA NA PE2 18 +NX_Q96KJ4 702 74540 6.71 1 Membrane NA PE3 16 +NX_Q96KJ9 171 20010 9.65 0 Mitochondrion inner membrane Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis PE1 20 +NX_Q96KK3 526 58372 6.71 6 Cell membrane NA PE1 20 +NX_Q96KK4 312 34384 8.64 7 Cell membrane NA PE2 6 +NX_Q96KK5 128 13906 10.88 0 Nucleus;Chromosome NA PE1 6 +NX_Q96KM6 892 97264 9.87 0 Nucleoplasm;Nucleus NA PE1 20 +NX_Q96KN1 310 34474 5.34 0 Nucleoplasm NA PE1 8 +NX_Q96KN2 507 56706 5.14 0 Secreted NA PE1 18 +NX_Q96KN3 472 52028 4.76 0 Cytoskeleton;Nucleus NA PE1 11 +NX_Q96KN4 292 32491 5.46 0 Nucleus NA PE1 2 +NX_Q96KN7 1286 146682 5.47 0 Cilium Cone-rod dystrophy 13;Leber congenital amaurosis 6 PE1 14 +NX_Q96KN8 279 30312 8.33 0 NA NA PE1 11 +NX_Q96KN9 370 40140 9.26 4 Gap junction;Cell membrane NA PE2 10 +NX_Q96KP1 924 104066 6.46 0 Cytoplasmic vesicle;Midbody ring NA PE1 6 +NX_Q96KP4 475 52878 5.66 0 Cytosol;Nucleoplasm;Cytoplasm NA PE1 18 +NX_Q96KP6 325 38943 7.56 0 NA NA PE1 4 +NX_Q96KQ4 1090 119565 6.33 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 14 +NX_Q96KQ7 1210 132370 5.3 0 Nucleoplasm;Nucleus speckle;Nucleus;Chromosome NA PE1 6 +NX_Q96KR1 1074 117012 9.17 0 Nucleoplasm;Cytoplasm;Nucleus;Chromosome;Cytoplasmic granule NA PE1 5 +NX_Q96KR4 655 73568 6.5 0 Cytosol;Cytoplasm;Focal adhesion;Lipid droplet NA PE1 3 +NX_Q96KR6 192 20424 10.45 2 Mitochondrion;Cytosol;Cell membrane;Mitochondrion outer membrane NA PE1 20 +NX_Q96KR7 559 62552 9.27 0 Nucleoplasm;Nucleus matrix NA PE1 20 +NX_Q96KS0 407 43650 8.18 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q96KS9 214 24182 5.93 0 Mitochondrion NA PE1 8 +NX_Q96KT0 104 11632 9.8 0 NA NA PE4 8 +NX_Q96KT6 92 9816 8.81 0 NA NA PE5 8 +NX_Q96KT7 338 35161 6.68 9 Membrane NA PE2 8 +NX_Q96KV6 586 65713 5.48 1 Membrane NA PE5 6 +NX_Q96KV7 1748 187437 6.56 0 Centriole;Nucleus speckle NA PE1 16 +NX_Q96KW2 1035 109912 9.92 0 NA NA PE1 6 +NX_Q96KW9 195 21466 4.71 0 Acrosome lumen;Acrosome;Secreted NA PE1 13 +NX_Q96KX0 146 16433 8.6 0 Flagellum;Acrosome;Secreted NA PE1 3 +NX_Q96KX1 117 13276 9.54 0 Cytosol;Focal adhesion NA PE2 4 +NX_Q96KX2 299 35025 7.61 0 NA NA PE1 12 +NX_Q96L03 361 43499 9.87 0 Cytoplasm;Nucleolus;Nucleus NA PE1 1 +NX_Q96L08 255 27119 10.24 1 Nucleus;Cell membrane NA PE1 9 +NX_Q96L11 122 13527 5.89 0 Secreted NA PE2 7 +NX_Q96L12 384 44996 6.19 0 Endoplasmic reticulum lumen Cardiomyopathy, familial hypertrophic 19 PE1 19 +NX_Q96L14 293 32648 5.45 0 NA NA PE5 4 +NX_Q96L15 291 32054 8.52 0 Secreted NA PE1 11 +NX_Q96L21 214 24519 10.03 0 Nucleus NA PE1 14 +NX_Q96L33 236 26217 8.36 0 Endosome membrane;Cell membrane NA PE1 15 +NX_Q96L34 752 82520 9.7 0 Cytosol;Cytoplasm;Microtubule organizing center;Dendrite;Cilium axoneme;Centrosome;Cilium basal body NA PE1 19 +NX_Q96L42 1107 123804 6.46 6 Cell membrane;Membrane NA PE2 3 +NX_Q96L46 248 27660 5.51 0 Cytosol;Cytoplasm;Cell membrane NA PE1 16 +NX_Q96L50 414 46723 9.27 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus membrane NA PE1 14 +NX_Q96L58 329 37138 9.72 1 Golgi stack membrane Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures;Ehlers-Danlos syndrome, spondylodysplastic type, 2 PE1 1 +NX_Q96L73 2696 296652 8.4 0 Nucleus;Chromosome;Cell membrane Sotos syndrome 1;Beckwith-Wiedemann syndrome PE1 5 +NX_Q96L91 3159 343489 9.27 0 Nucleus NA PE1 12 +NX_Q96L92 541 61265 6.06 0 Nucleoplasm;Cytosol;Early endosome membrane NA PE1 1 +NX_Q96L93 1317 152011 5.86 0 Mitochondrion;Cytoskeleton;Early endosome membrane NA PE1 20 +NX_Q96L94 193 22068 9.6 0 Nucleoplasm;Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA PE1 15 +NX_Q96L96 1907 201272 7.73 0 Nucleus Cardiomyopathy, familial hypertrophic 27 PE1 15 +NX_Q96LA5 508 55542 5.98 1 Cell membrane NA PE1 1 +NX_Q96LA6 429 46936 5.32 1 Cell membrane NA PE1 1 +NX_Q96LA8 375 41938 5.32 0 Nucleolus;Nucleus NA PE1 1 +NX_Q96LA9 322 36461 9 7 Cell membrane NA PE2 11 +NX_Q96LB0 322 36483 8.79 7 Cell membrane NA PE2 11 +NX_Q96LB1 330 37099 8.36 7 Cell membrane NA PE1 11 +NX_Q96LB2 322 36250 7.5 7 Cell membrane NA PE1 11 +NX_Q96LB3 600 69239 5.73 0 Cytoplasmic vesicle;Cilium;Golgi apparatus Bardet-Biedl syndrome 20 PE1 9 +NX_Q96LB4 118 13917 9.16 0 NA NA PE1 1 +NX_Q96LB8 373 40620 7.2 0 Cytoplasmic vesicle;Cell membrane;Secreted NA PE1 1 +NX_Q96LB9 341 37611 6.48 0 Secreted NA PE1 1 +NX_Q96LC7 697 76592 8.69 1 Cytosol;Cytoskeleton;Cell membrane;Secreted NA PE1 19 +NX_Q96LC9 184 20508 4.91 0 Nucleoplasm NA PE1 15 +NX_Q96LD1 299 32949 7.59 1 Cytoskeleton;Sarcolemma NA PE1 8 +NX_Q96LD4 638 69532 6.03 0 Cytosol;Cytoplasm;Nucleus NA PE1 17 +NX_Q96LD8 212 24107 5.6 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 15 +NX_Q96LI5 555 63001 6.26 0 Cytosol;Cytoplasm;Nucleus NA PE1 4 +NX_Q96LI6 401 45107 6.68 0 Cytoplasm;Nucleus NA PE1 Y +NX_Q96LI9 332 38899 10.19 0 NA NA PE2 X +NX_Q96LJ7 313 33909 8.01 0 Cytosol;Nucleus;Centrosome;Endoplasmic reticulum NA PE1 14 +NX_Q96LJ8 280 30811 8.87 0 Nucleoplasm;Cilium;Cell membrane;Cell junction NA PE1 1 +NX_Q96LK0 163 19166 5.24 0 Centriole;Centrosome;Spindle pole;Cilium basal body Morbid obesity and spermatogenic failure PE1 3 +NX_Q96LK8 384 42325 4.7 0 NA NA PE1 17 +NX_Q96LL3 132 14383 9.23 1 Membrane NA PE2 16 +NX_Q96LL4 319 36790 8.84 0 Nucleoplasm;Cytosol NA PE1 8 +NX_Q96LL9 226 25961 10.49 1 Mitochondrion inner membrane NA PE1 7 +NX_Q96LM1 132 14531 9.93 0 NA NA PE5 12 +NX_Q96LM5 186 21723 9.97 0 NA NA PE1 4 +NX_Q96LM6 180 20615 7.14 0 Cytoplasm;Nucleus NA PE1 2 +NX_Q96LM9 149 16552 6.25 0 NA NA PE2 20 +NX_Q96LP2 452 52032 9.15 0 NA NA PE1 5 +NX_Q96LP6 360 39738 9.69 0 NA NA PE2 12 +NX_Q96LQ0 422 49440 9.41 0 NA NA PE1 14 +NX_Q96LR2 239 25806 4.74 0 Cytoplasmic vesicle;Cytoplasm NA PE1 1 +NX_Q96LR4 140 15682 9.24 0 Secreted NA PE1 3 +NX_Q96LR5 201 22255 7.59 0 Nucleoplasm NA PE1 3 +NX_Q96LR7 162 17838 9.51 0 NA NA PE1 2 +NX_Q96LR9 279 30546 10.45 3 Nucleoplasm;Cytosol;Cell membrane NA PE2 12 +NX_Q96LS8 159 17367 9.49 0 NA NA PE2 2 +NX_Q96LT4 415 48321 8.35 6 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 10 +NX_Q96LT6 269 29561 5.41 0 Cytosol;Cell membrane NA PE2 1 +NX_Q96LT7 481 54328 5.82 0 Endosome;P-body;Perikaryon;Nucleus membrane;Secreted;Stress granule;Cytoplasm;Lysosome;Axon;Dendrite;Nucleus;Autophagosome;Growth cone Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PE1 9 +NX_Q96LT9 517 58575 7.61 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q96LU5 166 18504 8.29 0 Mitochondrion inner membrane NA PE1 11 +NX_Q96LU7 910 101670 6.4 1 Nucleolus;Membrane NA PE2 12 +NX_Q96LW1 612 70529 9.6 0 Nucleoplasm;Nucleus NA PE1 5 +NX_Q96LW2 410 46191 6.87 0 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA PE2 17 +NX_Q96LW4 560 64412 5.19 0 Cytosol;Cytoplasm;Mitochondrion matrix;Nucleus;Nucleoplasm Myopia 22, autosomal dominant PE1 4 +NX_Q96LW7 228 25589 9.43 0 Mitochondrion;Endoplasmic reticulum membrane;Nucleus;Mitochondrion membrane NA PE1 9 +NX_Q96LW9 406 47293 6.42 0 Cytosol;Nucleoplasm;Nucleus NA PE1 6 +NX_Q96LX7 622 67721 6.76 0 NA NA PE1 1 +NX_Q96LX8 424 48076 6.29 0 Nucleolus;Nucleus NA PE1 16 +NX_Q96LY2 380 41826 10.46 0 NA NA PE2 2 +NX_Q96LZ2 347 38971 5.74 0 NA NA PE1 X +NX_Q96LZ3 170 19533 4.73 0 NA NA PE1 9 +NX_Q96LZ7 410 47399 6.12 1 Golgi apparatus;Cytosol;Cytoplasm;Membrane;Spindle;Spindle pole NA PE1 2 +NX_Q96M02 699 77910 9.21 0 Cytosol;Cytoplasm;Centrosome;Cell membrane;Nucleoplasm NA PE1 10 +NX_Q96M11 299 34359 6.98 0 Cytosol;Cytoplasm;Cell membrane;Centrosome;Centriole;Cilium Hydrolethalus syndrome 1 PE1 11 +NX_Q96M15 143 15995 9.42 0 NA NA PE2 3 +NX_Q96M19 166 18185 10.52 3 Membrane NA PE5 12 +NX_Q96M20 576 67512 9.33 0 Cytosol NA PE1 20 +NX_Q96M27 445 46701 5.56 0 Cytoplasmic vesicle;Golgi apparatus NA PE1 5 +NX_Q96M29 485 56294 6.8 0 Cytoskeleton;Flagellum NA PE1 16 +NX_Q96M32 723 82658 4.67 0 Cytosol;Flagellum Spermatogenic failure 27 PE1 14 +NX_Q96M34 536 60162 5.51 0 NA NA PE1 3 +NX_Q96M42 142 15208 8.28 0 NA NA PE5 21 +NX_Q96M43 638 72053 4.83 0 Cytoplasm NA PE2 1 +NX_Q96M53 351 39460 9.21 0 Cytosol NA PE2 10 +NX_Q96M60 508 59956 9 0 Nucleus speckle NA PE2 15 +NX_Q96M61 343 38533 6.81 0 Cytoplasm NA PE1 X +NX_Q96M63 670 75046 5.87 0 Cilium Ciliary dyskinesia, primary, 20 PE1 19 +NX_Q96M66 194 20693 9.73 0 NA NA PE2 16 +NX_Q96M69 825 93618 6 0 Cytoskeleton;Acrosome;Cilium basal body NA PE1 7 +NX_Q96M78 137 15528 6.44 0 NA NA PE2 8 +NX_Q96M83 1385 157448 7.16 0 Cytosol;Spindle;Nucleolus NA PE1 10 +NX_Q96M85 177 19601 9.71 0 NA NA PE2 22 +NX_Q96M86 4753 533644 6.25 0 Nucleoplasm;Cytoskeleton NA PE1 11 +NX_Q96M89 665 76219 8.75 0 Cytosol;Nucleus NA PE1 2 +NX_Q96M91 514 61835 9 0 Cilium;Midbody Heterotaxy, visceral, 6, autosomal PE1 18 +NX_Q96M93 576 64411 9.14 0 Nucleus NA PE1 4 +NX_Q96M94 604 69775 5.98 0 Cytosol;Nucleus Mental retardation, X-linked 103 PE1 X +NX_Q96M95 316 38019 9.18 0 NA NA PE1 17 +NX_Q96M96 766 86626 5.8 0 Cytoskeleton;Filopodium Charcot-Marie-Tooth disease 4H PE1 12 +NX_Q96M98 296 33342 8.42 0 NA NA PE1 6 +NX_Q96MA1 342 36205 6.6 0 Nucleus NA PE1 1 +NX_Q96MA6 479 54926 5.77 0 Cytosol NA PE1 9 +NX_Q96MB7 349 39146 5.28 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 11 +NX_Q96MC2 740 87134 5.3 0 Flagellum axoneme;Cilium axoneme Ciliary dyskinesia, primary, 21 PE1 2 +NX_Q96MC4 621 69839 9.65 0 Cytoplasmic vesicle;Cilium NA PE1 17 +NX_Q96MC5 204 23732 5.93 0 Cytosol;Nucleoplasm NA PE1 16 +NX_Q96MC6 490 53027 8.63 12 Cytoplasmic vesicle;Membrane NA PE1 1 +NX_Q96MC9 270 29841 10.45 0 NA NA PE2 1 +NX_Q96MD2 445 50415 8.95 0 Cytoskeleton;Lysosome membrane;Spindle NA PE1 12 +NX_Q96MD7 179 20166 9.54 0 Nucleolus;Nucleus;Golgi apparatus NA PE1 9 +NX_Q96ME1 805 88341 8.73 0 Nucleoplasm;Cytosol NA PE1 7 +NX_Q96ME7 567 64682 9.8 0 Nucleus NA PE1 2 +NX_Q96MF0 132 14640 8.82 0 NA NA PE5 15 +NX_Q96MF2 364 41507 6.5 0 Nucleoplasm;Cytosol;Sarcolemma;Cytoplasm Native American myopathy PE1 12 +NX_Q96MF4 163 18252 10.64 0 NA NA PE2 2 +NX_Q96MF6 247 27686 9.81 0 Cytosol;Mitochondrion inner membrane;Golgi apparatus;Endoplasmic reticulum NA PE1 12 +NX_Q96MF7 247 27932 7.62 0 PML body;Nucleus;Telomere Seckel syndrome 10 PE1 8 +NX_Q96MG2 331 36319 9.43 0 Endoplasmic reticulum membrane;Endoplasmic reticulum;Sarcoplasmic reticulum membrane NA PE1 19 +NX_Q96MG7 304 34308 9.3 0 Cytoplasm;Nucleus;Telomere Lung disease, immunodeficiency, and chromosome breakage syndrome PE1 15 +NX_Q96MG8 357 40675 5.46 0 Nucleoplasm;Cytoplasm;Cell membrane;Membrane NA PE1 8 +NX_Q96MH2 286 32419 6.13 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 17 +NX_Q96MH6 324 37425 7.72 2 Cytoplasmic vesicle;Membrane NA PE1 8 +NX_Q96MH7 638 72898 8.16 0 NA NA PE1 5 +NX_Q96MI6 270 30375 5.34 0 Nucleus NA PE1 3 +NX_Q96MI9 1066 120281 6.85 0 Cytosol Corneal dystrophy, Fuchs endothelial, 8 PE1 15 +NX_Q96MK2 946 105290 7.26 0 Nucleoplasm NA PE1 20 +NX_Q96MK3 541 61417 8.2 0 Golgi apparatus;Endoplasmic reticulum;Secreted Amelogenesis imperfecta 1G PE1 17 +NX_Q96MM3 310 34802 9.12 0 Nucleus NA PE1 4 +NX_Q96MM6 686 75688 8.81 0 NA NA PE1 20 +NX_Q96MM7 605 69130 9.79 1 Nucleoplasm;Membrane NA PE1 X +NX_Q96MN2 994 113415 5.54 0 NA NA PE1 19 +NX_Q96MN5 208 24150 10.05 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 1 +NX_Q96MN9 340 36962 9.2 0 Nucleoplasm;Cytosol;Nucleus NA PE1 10 +NX_Q96MP5 696 79454 7.27 0 Cytoplasmic vesicle;Cytosol;Nucleolus NA PE1 20 +NX_Q96MP8 289 33132 5.58 0 Cytosol;Cell membrane Epilepsy, progressive myoclonic 3, with or without intracellular inclusions PE1 7 +NX_Q96MR6 1250 144961 5.61 0 Cytosol NA PE1 1 +NX_Q96MR7 158 17524 11.82 0 NA NA PE5 1 +NX_Q96MR9 790 91121 8.99 0 Nucleoplasm;Nucleus;Cell membrane NA PE2 19 +NX_Q96MS0 1386 148209 6.74 1 Membrane Gaze palsy, familial horizontal, with progressive scoliosis, 1 PE1 11 +NX_Q96MS3 346 38507 6.02 0 Cytosol;Secreted NA PE1 12 +NX_Q96MT0 163 16963 5.29 0 NA NA PE2 10 +NX_Q96MT1 663 75617 6.39 14 Endoplasmic reticulum membrane;Cytoplasm;Cytosol;Cell membrane;Nucleoplasm NA PE1 5 +NX_Q96MT3 831 94300 5.84 0 Cytosol;Nucleoplasm;Nucleus membrane Neural tube defects;Epilepsy, progressive myoclonic 1B PE1 12 +NX_Q96MT4 127 13896 7.59 0 NA NA PE1 6 +NX_Q96MT7 1854 213865 5.28 0 Flagellum axoneme;Flagellum Spermatogenic failure 20 PE1 3 +NX_Q96MT8 703 81344 5.78 0 Centriole;Nucleoplasm;Centriolar satellite;Centrosome Seckel syndrome 6 PE1 3 +NX_Q96MU5 243 26264 6.58 0 Secreted NA PE2 17 +NX_Q96MU6 729 81964 8.77 0 Nucleus NA PE1 16 +NX_Q96MU7 727 84700 5.87 0 Nucleoplasm;Nucleus speckle;Nucleus;Cell membrane NA PE1 4 +NX_Q96MU8 473 51744 6.69 1 Nucleoplasm;Cytosol;Nucleus;Cell membrane Ectodermal dysplasia 13, hair/tooth type PE1 22 +NX_Q96MV1 263 30041 9.4 6 Nucleus speckle;Membrane NA PE1 1 +NX_Q96MV8 337 39331 8.42 4 Cytosol;Nucleus speckle;Golgi apparatus membrane Mental retardation, X-linked 91 PE1 X +NX_Q96MW1 224 25248 4.85 0 Cytosol NA PE1 17 +NX_Q96MW5 612 68424 5.12 0 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2H PE1 16 +NX_Q96MW7 591 67299 8.53 0 Nucleolus;Nucleus NA PE1 2 +NX_Q96MX0 182 19714 4.39 3 Nucleoplasm;Membrane NA PE1 16 +NX_Q96MX3 618 67820 9.51 0 Mitochondrion;Nucleus NA PE1 16 +NX_Q96MX6 357 39740 8.32 0 Nucleoplasm NA PE1 2 +NX_Q96MY1 436 47215 4.92 0 Nucleoplasm NA PE1 20 +NX_Q96MY7 647 73647 9.44 0 NA NA PE1 14 +NX_Q96MZ0 367 41973 6.13 0 Endoplasmic reticulum NA PE1 20 +NX_Q96MZ4 157 17021 11.82 0 NA NA PE1 4 +NX_Q96N03 204 22349 8.75 0 NA NA PE1 20 +NX_Q96N06 139 15461 9.27 0 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 16 +NX_Q96N11 449 50047 7.61 0 Cytosol;Cytoskeleton;Nucleolus;Nucleus NA PE1 7 +NX_Q96N16 626 73209 5.84 0 Cytoskeleton;Membrane NA PE1 4 +NX_Q96N19 417 46059 8.78 7 Cytoskeleton;Nucleolus;Nucleus;Membrane NA PE1 11 +NX_Q96N20 296 34694 9.55 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 16 +NX_Q96N21 525 55137 6.57 0 Nucleus speckle;trans-Golgi network membrane;Nucleus membrane;Golgi apparatus;Cytosol;Cytoplasmic vesicle NA PE1 17 +NX_Q96N22 645 75059 9.27 0 Nucleus NA PE2 19 +NX_Q96N23 3096 351970 8.41 0 Cytosol;Cytoskeleton;Cilium axoneme NA PE1 12 +NX_Q96N28 172 19247 7.02 0 Mitochondrion NA PE1 18 +NX_Q96N35 136 15076 7.18 1 Membrane NA PE5 15 +NX_Q96N38 554 63883 9.29 0 Nucleus NA PE1 19 +NX_Q96N46 770 88319 8.77 0 Nucleus NA PE1 3 +NX_Q96N53 147 15424 11.86 0 NA NA PE5 11 +NX_Q96N58 590 68531 9.19 0 Nucleus NA PE1 19 +NX_Q96N64 755 81960 9.09 0 Nucleoplasm;Focal adhesion;Nucleus NA PE1 5 +NX_Q96N66 472 52765 9.16 7 Cytosol;Membrane Mental retardation, autosomal recessive 57 PE1 19 +NX_Q96N67 2140 242561 6.34 0 Axon Epileptic encephalopathy, early infantile, 23 PE1 1 +NX_Q96N68 181 19136 7.45 1 Membrane NA PE5 18 +NX_Q96N76 676 74831 6.34 0 NA Urocanase deficiency PE1 3 +NX_Q96N77 438 49528 5.78 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q96N87 628 70897 7.03 12 Endoplasmic reticulum;Membrane NA PE2 5 +NX_Q96N95 335 38612 8.26 0 Cytoplasm;Nucleus NA PE1 18 +NX_Q96N96 652 74820 7.01 0 Ruffle membrane;Cytosol;Cytoplasm;Nucleoplasm;Filopodium;Lamellipodium NA PE1 13 +NX_Q96NA2 401 44200 5.47 0 Phagosome membrane;Late endosome membrane;Lysosome membrane NA PE1 17 +NX_Q96NA8 513 55949 9.23 1 Nucleus;Cell membrane;Membrane NA PE1 8 +NX_Q96NB1 174 19778 6.6 0 Cilium;Centriole;Cytoplasmic granule;Centriolar satellite;Centrosome;Cilium basal body NA PE1 16 +NX_Q96NB2 322 36232 9.48 5 Mitochondrion;Mitochondrion membrane NA PE1 10 +NX_Q96NB3 372 41999 5.22 0 Nucleoplasm;Nucleus speckle;Nucleus;Chromosome NA PE1 17 +NX_Q96NC0 199 23612 9.08 0 Mitochondrion;Nucleus NA PE1 5 +NX_Q96ND0 272 30777 9.77 1 Mitochondrion;Cytoplasm;Nucleus;Golgi apparatus;Membrane NA PE1 18 +NX_Q96ND8 569 66033 9.07 0 Cytosol;Nucleolus;Nucleus NA PE1 19 +NX_Q96NE9 622 72044 7.12 0 Mitochondrion;Cytoplasm;Cell membrane NA PE1 14 +NX_Q96NF6 230 25558 9.67 1 Membrane NA PE2 8 +NX_Q96NG3 672 76655 5.49 0 Cytoplasm;Cilium axoneme Ciliary dyskinesia, primary, 35 PE1 17 +NX_Q96NG5 402 45755 9.2 0 Nucleus NA PE1 19 +NX_Q96NG8 517 60498 8.79 0 Nucleoplasm;Cytosol;Nucleus NA PE1 19 +NX_Q96NH3 1257 144756 6.3 0 Mitochondrion;Cytoplasm;Cilium NA PE1 6 +NX_Q96NI6 719 79445 7.26 1 Membrane NA PE1 14 +NX_Q96NI8 536 62330 8.63 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q96NJ1 140 14269 11.49 0 NA NA PE2 9 +NX_Q96NJ3 590 68261 8.59 0 Nucleus NA PE1 19 +NX_Q96NJ5 620 70362 5.97 0 NA NA PE2 6 +NX_Q96NJ6 502 57662 6.99 0 Cytosol;Nucleoplasm;Nucleus NA PE1 17 +NX_Q96NK8 337 38705 8.76 0 Nucleus NA PE1 7 +NX_Q96NL0 473 52813 5.44 0 NA NA PE1 7 +NX_Q96NL1 305 33338 5.12 2 Cytosol;Autophagosome membrane;Lysosome membrane NA PE1 8 +NX_Q96NL3 588 67492 8.73 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA PE1 19 +NX_Q96NL6 688 80910 5.83 0 Centriole;Cytosol;Cytoskeleton NA PE1 4 +NX_Q96NL8 207 23381 6.52 0 Photoreceptor inner segment;Cytoplasm;Cytosol;Cell junction;Cell membrane Cone-rod dystrophy 16;Retinitis pigmentosa 64;Bardet-Biedl syndrome 21 PE1 8 +NX_Q96NM4 488 51604 6.23 0 Nucleoplasm;Nucleus NA PE1 20 +NX_Q96NN9 605 66791 9.2 0 Mitochondrion NA PE1 22 +NX_Q96NR2 134 14382 11.88 0 NA NA PE2 20 +NX_Q96NR3 888 101341 8.57 11 Cell membrane Autism, X-linked 4 PE2 X +NX_Q96NR7 200 21356 12.28 0 NA NA PE5 4 +NX_Q96NR8 316 35094 9.73 0 NA Leber congenital amaurosis 13;Retinitis pigmentosa 53 PE1 14 +NX_Q96NS1 127 14301 8.42 0 Nucleolus NA PE2 11 +NX_Q96NS5 453 49637 8.39 0 Focal adhesion NA PE1 17 +NX_Q96NS8 147 16687 6.48 0 NA NA PE5 16 +NX_Q96NT0 180 19761 6.44 0 Endoplasmic reticulum-Golgi intermediate compartment;Endosome;Lysosome;COPI-coated vesicle;Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane Congenital disorder of glycosylation 2O PE1 2 +NX_Q96NT1 182 19593 4.12 0 Cytosol;Nucleoplasm;Nucleus NA PE1 4 +NX_Q96NT3 240 27207 6.4 0 Nucleoplasm NA PE1 22 +NX_Q96NT5 459 49771 9.03 12 Cytosol;Cytoplasm;Apical cell membrane;Cell membrane Hereditary folate malabsorption PE1 17 +NX_Q96NU0 1288 140415 7.19 1 Membrane NA PE2 9 +NX_Q96NU1 681 72708 7.34 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 1 +NX_Q96NU7 426 46743 6.14 0 Cytoskeleton;Focal adhesion;Cell membrane NA PE1 12 +NX_Q96NW4 1050 116984 6.42 0 Endosome;Late endosome;Melanosome;Lysosome;Cytosol;Cell membrane;Early endosome;Cytoplasmic vesicle membrane NA PE1 19 +NX_Q96NW7 1537 172581 6.37 0 Postsynaptic density;Cytoplasm NA PE1 1 +NX_Q96NX5 476 53087 7.83 0 Cytoplasm;Golgi apparatus membrane;Cell membrane NA PE1 1 +NX_Q96NX9 599 65323 9.22 0 Nucleus NA PE2 X +NX_Q96NY7 704 73012 4.29 1 Cytoplasm;Cell membrane NA PE1 21 +NX_Q96NY8 510 55454 5.23 1 Adherens junction;Cell membrane;Secreted Ectodermal dysplasia-syndactyly syndrome 1 PE1 1 +NX_Q96NY9 551 61173 9.78 0 Nucleolus;Nucleus NA PE1 11 +NX_Q96NZ1 517 55215 5.93 0 Cytosol;Mitochondrion;Nucleus NA PE1 12 +NX_Q96NZ8 548 58798 5.84 0 Secreted NA PE1 16 +NX_Q96NZ9 151 17208 5.2 0 Cytoplasmic vesicle;Nucleoplasm;Cell membrane;Secreted NA PE1 10 +NX_Q96P09 236 27089 6.99 0 Cytoplasm NA PE1 19 +NX_Q96P11 429 46692 8.91 0 NA NA PE1 7 +NX_Q96P15 392 44099 8.42 0 Cytoplasm NA PE1 18 +NX_Q96P16 312 35720 7.13 0 Nucleus;Golgi apparatus NA PE1 18 +NX_Q96P20 1036 118173 6.22 0 Cytosol;Inflammasome;Nucleus;Endoplasmic reticulum;Secreted Chronic infantile neurologic cutaneous and articular syndrome;Deafness, autosomal dominant 34, with or without inflammation;Keratoendothelitis fugax hereditaria;Familial cold autoinflammatory syndrome 1;Muckle-Wells syndrome PE1 1 +NX_Q96P26 610 68804 9.03 0 Cytoplasm NA PE1 2 +NX_Q96P31 734 80856 6.56 1 Cell membrane Rheumatoid arthritis PE1 1 +NX_Q96P44 957 99369 8.57 0 Cytosol;Cytoplasm;Extracellular matrix NA PE1 6 +NX_Q96P47 875 95044 8.22 0 Cytoplasm NA PE1 7 +NX_Q96P48 1450 162192 5.86 0 Golgi stack membrane;Nucleoplasm;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol NA PE1 11 +NX_Q96P50 834 92495 5.69 0 Nucleoplasm;Golgi apparatus NA PE1 1 +NX_Q96P53 400 45154 6.46 0 Cytoplasm;Endosome;Early endosome NA PE1 13 +NX_Q96P56 530 62041 6.83 6 Flagellum membrane Deafness-infertility syndrome PE1 15 +NX_Q96P63 405 46276 5.36 0 Cytoplasm NA PE1 18 +NX_Q96P64 663 73070 7.03 0 NA NA PE2 10 +NX_Q96P65 431 49488 9.27 7 Cell membrane NA PE2 4 +NX_Q96P66 508 56716 5.51 7 Cell membrane Pituitary adenoma 2, growth hormone-secreting PE1 X +NX_Q96P67 336 38409 9.21 6 Cell membrane NA PE2 X +NX_Q96P68 337 38251 8.54 7 Cell membrane NA PE2 13 +NX_Q96P69 363 39332 10.26 7 Cell membrane NA PE1 4 +NX_Q96P70 1041 115963 4.71 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol NA PE1 1 +NX_Q96P71 396 44350 5.83 0 Golgi apparatus NA PE1 20 +NX_Q96P88 292 32537 9.45 5 Cell membrane NA PE5 1 +NX_Q96PB1 797 91680 9.04 15 Nucleoplasm;Golgi apparatus membrane NA PE1 7 +NX_Q96PB7 478 54930 8.29 0 Cytoplasmic vesicle;Synapse;Secreted NA PE1 1 +NX_Q96PB8 259 29275 6.49 1 Membrane NA PE1 3 +NX_Q96PC2 410 46417 8.28 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 6 +NX_Q96PC3 154 18280 6.32 0 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Clathrin-coated pit;Golgi apparatus Psoriasis 15, pustular PE1 2 +NX_Q96PC5 1412 159836 4.61 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 14 +NX_Q96PD2 775 85035 6.77 1 Cytosol;Golgi apparatus;Cell membrane;Membrane NA PE1 3 +NX_Q96PD4 163 18045 9.15 0 Secreted Candidiasis, familial, 6 PE1 6 +NX_Q96PD5 576 62217 7.25 0 Membrane;Cell junction;Secreted NA PE1 19 +NX_Q96PD6 335 38812 9.52 3 Endoplasmic reticulum membrane NA PE2 2 +NX_Q96PD7 388 43831 9.46 2 Endoplasmic reticulum membrane;Perinuclear region;Lipid droplet NA PE1 11 +NX_Q96PE1 1338 142647 8.82 7 Filopodium;Cell membrane NA PE1 8 +NX_Q96PE2 2063 221673 5.9 0 Cytosol NA PE1 11 +NX_Q96PE3 977 109956 6.53 0 Nucleus;Nucleus membrane NA PE1 2 +NX_Q96PE5 141 15683 5.83 1 Golgi apparatus;Cell membrane NA PE1 10 +NX_Q96PE6 472 54498 9.43 0 Nucleus NA PE1 19 +NX_Q96PE7 176 18749 9.17 0 Mitochondrion;Cytoplasm;Nucleolus Methylmalonyl-CoA epimerase deficiency PE1 2 +NX_Q96PF1 710 79941 6.54 0 NA NA PE1 15 +NX_Q96PF2 358 40939 9.02 0 Centriole;Cytoplasm NA PE1 22 +NX_Q96PG1 132 15209 8.42 2 Membrane NA PE2 11 +NX_Q96PG2 267 29747 9.14 4 Membrane NA PE2 11 +NX_Q96PG8 261 26498 11.98 0 NA NA PE1 19 +NX_Q96PH1 765 86439 8.88 7 Endoplasmic reticulum;Membrane NA PE1 15 +NX_Q96PH6 123 13614 6.88 0 Secreted NA PE1 20 +NX_Q96PI1 79 8793 9.76 0 Cytoplasm;Cell cortex NA PE2 1 +NX_Q96PJ5 515 57224 6.08 1 Cell membrane NA PE1 1 +NX_Q96PK6 669 69492 9.68 0 Cytoplasm;Nucleolus;Nucleus;Nucleus speckle NA PE1 11 +NX_Q96PL1 93 10161 6.71 0 Secreted NA PE1 5 +NX_Q96PL2 329 36956 8.34 0 Cell membrane;Extracellular matrix NA PE2 10 +NX_Q96PL5 475 52605 8.75 1 Cytoplasm;Cell membrane NA PE1 1 +NX_Q96PM5 261 30110 6.26 0 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Nucleus speckle NA PE1 4 +NX_Q96PM9 386 40454 9.88 0 Cytosol;Dendrite;Nucleolus;Nucleus;Cytoplasm NA PE1 12 +NX_Q96PN6 1610 187149 6.99 0 Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Mitochondrion;Cytoskeleton;Cilium Hypercalciuria absorptive 2 PE1 1 +NX_Q96PN7 1200 132256 6.26 0 Cytosol;Nucleoplasm;Nucleus NA PE1 6 +NX_Q96PN8 268 30102 6.25 0 Nucleolus;Nucleus NA PE1 1 +NX_Q96PP4 275 31778 10.07 0 NA NA PE1 7 +NX_Q96PP8 586 66617 5.38 0 Cytoplasm;Golgi apparatus membrane;Endoplasmic reticulum NA PE1 1 +NX_Q96PP9 640 73165 5.73 0 Cytoplasm;Perinuclear region;Nucleus;Cell membrane;Golgi apparatus membrane NA PE1 1 +NX_Q96PQ0 1159 128152 6.64 1 Cytosol;Nucleus;Membrane NA PE1 4 +NX_Q96PQ1 595 64984 6.21 1 Membrane NA PE1 19 +NX_Q96PQ5 205 22863 4.73 0 NA NA PE5 6 +NX_Q96PQ6 595 67959 9.21 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q96PQ7 755 84457 6.2 0 Cytoskeleton NA PE1 4 +NX_Q96PR1 638 70226 8.24 6 Synaptosome;Synapse;Apical cell membrane;Basolateral cell membrane;Cytosol;Cell membrane;Axon;Dendrite;Postsynaptic cell membrane;Presynaptic cell membrane;Membrane;Perikaryon NA PE1 12 +NX_Q96PS1 177 20188 9.45 0 NA NA PE2 3 +NX_Q96PS6 74 8425 8.48 1 Membrane NA PE4 14 +NX_Q96PS8 301 31763 6.29 5 Membrane NA PE1 1 +NX_Q96PT3 197 22164 10.66 0 Nucleus NA PE2 unknown +NX_Q96PT4 197 22130 10.87 0 Nucleus NA PE2 unknown +NX_Q96PU4 802 89985 8.55 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q96PU5 975 111932 5.56 0 Cytoplasm;Focal adhesion;Multivesicular body;Golgi apparatus Periventricular nodular heterotopia 7 PE1 18 +NX_Q96PU8 341 37671 8.63 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 6 +NX_Q96PU9 254 27710 9.9 0 Cytoplasm NA PE1 11 +NX_Q96PV0 1343 148284 9.12 0 Nucleus Mental retardation, autosomal dominant 5 PE1 6 +NX_Q96PV4 448 49934 6.33 0 NA NA PE1 X +NX_Q96PV6 800 88157 9.24 0 Nucleus NA PE1 19 +NX_Q96PV7 902 96543 8.18 0 Cytoplasm;Nucleolus;Nucleus NA PE1 5 +NX_Q96PX1 679 73579 4.6 0 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus NA PE1 17 +NX_Q96PX6 553 59976 9.03 0 NA NA PE1 2 +NX_Q96PX8 696 77735 6.01 1 Synapse;Secreted;Membrane Trichotillomania PE1 13 +NX_Q96PX9 1271 139667 6.33 0 Nucleoplasm NA PE1 5 +NX_Q96PY0 264 28245 11.15 0 NA NA PE5 7 +NX_Q96PY5 1086 123321 6.98 0 Cytosol;Cytoplasm;Golgi apparatus;Cell membrane NA PE1 2 +NX_Q96PY6 1258 142828 5.67 0 Cytoplasm;Nucleolus;Nucleus;Centrosome;Nucleus membrane Short-rib thoracic dysplasia 6 with or without polydactyly;Amyotrophic lateral sclerosis 24 PE1 4 +NX_Q96PZ0 661 75035 5.98 0 Nucleus NA PE1 7 +NX_Q96PZ2 611 70196 8.77 0 Cytoplasm;Nucleolus;Nucleus Kenny-Caffey syndrome 2;Gracile bone dysplasia PE1 11 +NX_Q96PZ7 3564 388736 5.64 1 Cytoplasmic vesicle;Membrane NA PE1 8 +NX_Q96Q04 1460 153661 4.77 1 Nucleoplasm;Axon;Dendrite;Golgi apparatus membrane;Membrane;Cell junction NA PE1 19 +NX_Q96Q05 1148 128530 6.17 0 Golgi apparatus;Nucleoplasm;Cytoplasm;cis-Golgi network;Endoplasmic reticulum;Cytoplasmic vesicle Mental retardation, autosomal recessive 13 PE1 8 +NX_Q96Q06 1357 134431 8.92 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Lipid droplet;Cell membrane NA PE1 19 +NX_Q96Q07 612 69188 5.48 0 Nucleoplasm Restless legs syndrome 6 PE1 6 +NX_Q96Q11 434 50128 8.14 0 Mitochondrion Retinitis pigmentosa and erythrocytic microcytosis;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay PE1 3 +NX_Q96Q15 3661 410501 6.03 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 16 +NX_Q96Q27 587 65084 7.55 0 NA NA PE1 14 +NX_Q96Q35 445 52439 6.29 0 Cytosol;Cytoplasm;Flagellum;Cell membrane;Cytoplasmic granule NA PE1 2 +NX_Q96Q40 435 49023 6.68 0 Nucleus;Golgi apparatus NA PE1 2 +NX_Q96Q42 1657 183634 5.88 0 Cytosol;Cytoskeleton Amyotrophic lateral sclerosis 2;Juvenile primary lateral sclerosis;Infantile-onset ascending spastic paralysis PE1 2 +NX_Q96Q45 408 45526 6.09 4 Cilium;Membrane Joubert syndrome 14 PE1 2 +NX_Q96Q77 187 21802 4.52 0 NA NA PE1 19 +NX_Q96Q80 235 26679 8.64 4 Endoplasmic reticulum membrane;Cytoplasmic vesicle NA PE1 22 +NX_Q96Q83 286 33375 8.58 0 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA PE1 11 +NX_Q96Q89 1820 210629 5.54 0 Nucleolus;Nucleoplasm;Cytoplasm;Spindle pole;Centrosome;Axon;Nucleus;Growth cone;Spindle;Midbody NA PE1 10 +NX_Q96Q91 983 108248 6.66 12 Membrane NA PE2 5 +NX_Q96QA5 445 49365 5.19 0 Cytosol;Nucleoplasm;Perinuclear region;Nucleus;Cell membrane NA PE1 17 +NX_Q96QA6 119 13577 8.21 0 Nucleolus NA PE1 17 +NX_Q96QB1 1528 170591 5.98 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Focal adhesion;Membrane NA PE1 8 +NX_Q96QC0 940 99058 9.22 0 Nucleoplasm;Nucleus NA PE1 6 +NX_Q96QD5 511 58310 7.62 0 Cytosol;Nucleolus;Nucleus NA PE1 11 +NX_Q96QD8 506 56026 8.08 11 Cytoplasmic vesicle;Cell membrane NA PE1 12 +NX_Q96QD9 318 35818 11.78 0 Nucleoplasm;Nucleus speckle;Nucleus envelope NA PE1 3 +NX_Q96QE2 648 70371 5.81 12 Nucleus membrane;Membrane NA PE1 12 +NX_Q96QE3 1844 207570 9.27 0 Nucleus NA PE1 17 +NX_Q96QE4 947 105567 4.83 1 Cytosol;Membrane NA PE1 17 +NX_Q96QE5 360 41676 9.39 0 Mitochondrion matrix;Mitochondrion;Mitochondrion nucleoid NA PE1 17 +NX_Q96QF0 476 53021 5.73 0 Cytoplasm;Cytoskeleton;Nucleus;Lamellipodium NA PE1 12 +NX_Q96QF7 691 76112 4.37 0 Cytoplasmic vesicle;Nucleus NA PE1 X +NX_Q96QG7 549 63462 5.98 0 Cytoplasm;Cytoskeleton;Centrosome NA PE1 8 +NX_Q96QH2 670 73969 9.67 0 Golgi apparatus NA PE1 19 +NX_Q96QH8 159 17896 5.94 0 Secreted NA PE1 X +NX_Q96QI5 342 37186 10.8 1 Golgi apparatus membrane NA PE1 16 +NX_Q96QK1 796 91707 5.32 0 Endosome;Late endosome;Lysosome;Cytoplasm;Early endosome;Membrane Parkinson disease 17 PE1 16 +NX_Q96QK8 99 10710 5.15 1 Endoplasmic reticulum membrane NA PE1 4 +NX_Q96QP1 1244 138861 5.83 0 Cytosol;Centrosome NA PE1 4 +NX_Q96QR1 104 10100 8.57 0 Secreted NA PE1 5 +NX_Q96QR8 312 33241 5.35 0 Nucleus NA PE1 7 +NX_Q96QS1 320 34631 8.81 4 Membrane NA PE1 11 +NX_Q96QS3 562 58160 5.14 0 Nucleus Mental retardation, X-linked, ARX-related;Lissencephaly, X-linked 2;Epileptic encephalopathy, early infantile, 1;Partington syndrome;Agenesis of the corpus callosum, with abnormal genitalia PE1 X +NX_Q96QS6 385 43027 9.65 0 NA NA PE2 8 +NX_Q96QT4 1865 212697 8.1 6 Nucleoplasm;Membrane Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 PE1 15 +NX_Q96QT6 1004 109698 7.94 0 Nucleoplasm;Nucleus NA PE1 17 +NX_Q96QU1 1955 216069 4.94 1 Cell membrane;Secreted Deafness, autosomal recessive, 23;Usher syndrome 1D/F;Usher syndrome 1F PE1 10 +NX_Q96QU4 278 30564 8.29 0 Nucleus NA PE2 10 +NX_Q96QU6 501 57324 6.01 0 Golgi apparatus NA PE1 11 +NX_Q96QU8 1125 128883 5.94 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cell membrane NA PE1 16 +NX_Q96QV1 700 78851 8.24 0 Nucleoplasm;Cytoplasm;Cell membrane;Secreted NA PE1 4 +NX_Q96QV6 131 14234 10.86 0 Nucleus;Chromosome NA PE1 6 +NX_Q96QZ0 392 44683 8.48 4 Gap junction;Cell membrane NA PE2 11 +NX_Q96QZ7 1491 164581 7.3 0 Nucleoplasm;Tight junction;Cell membrane;Cell junction NA PE1 3 +NX_Q96R05 134 15536 7.67 0 Cytosol;Nucleus speckle;Cytoplasm NA PE1 1 +NX_Q96R06 1193 134422 4.93 0 Kinetochore;Cytoskeleton;Cytoplasm;Midbody;Cytoplasmic granule;Centriolar satellite;Centrosome;Spindle;Spindle pole NA PE1 17 +NX_Q96R08 314 35182 6.58 7 Cell membrane NA PE2 11 +NX_Q96R09 309 34568 8.58 7 Cell membrane NA PE2 11 +NX_Q96R27 311 35071 8.82 7 Cell membrane NA PE2 1 +NX_Q96R28 347 39177 7.07 7 Cell membrane NA PE3 1 +NX_Q96R30 315 35339 8.81 7 Cell membrane NA PE3 5 +NX_Q96R45 310 34742 8.96 7 Cell membrane NA PE2 7 +NX_Q96R47 310 34993 8.63 7 Cell membrane NA PE2 7 +NX_Q96R48 311 35207 9.44 7 Cell membrane NA PE2 7 +NX_Q96R54 314 34780 8.67 7 Cell membrane NA PE3 1 +NX_Q96R67 309 34491 8.67 7 Cell membrane NA PE2 11 +NX_Q96R69 305 34259 8.49 7 Cell membrane NA PE2 15 +NX_Q96R72 315 35408 8.69 7 Cell membrane NA PE3 14 +NX_Q96R84 312 34944 8.92 7 Cell membrane NA PE5 16 +NX_Q96RA2 312 34747 6.57 7 Cell membrane NA PE2 19 +NX_Q96RB7 305 34450 8.7 7 Cell membrane NA PE2 11 +NX_Q96RC9 309 34404 6.57 7 Cell membrane NA PE2 11 +NX_Q96RD0 313 35272 9.23 7 Cell membrane NA PE3 11 +NX_Q96RD1 312 35660 9.09 7 Cell membrane NA PE2 12 +NX_Q96RD2 323 36185 8.9 7 Cell membrane NA PE2 11 +NX_Q96RD3 313 35524 8.11 7 Cell membrane NA PE3 11 +NX_Q96RD6 677 74447 8.19 4 Gap junction;Cell membrane NA PE1 22 +NX_Q96RD7 426 48050 5.75 4 Endoplasmic reticulum membrane;Gap junction;Cell membrane NA PE1 11 +NX_Q96RD9 977 106437 6.7 1 Cell membrane NA PE1 1 +NX_Q96RE7 527 57258 5.52 0 Nucleoplasm;Cytoplasm;Nucleus Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination PE1 19 +NX_Q96RE9 604 68743 9 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 5 +NX_Q96RF0 628 68894 5.44 0 Cytosol;Endosome membrane;Cytoplasmic vesicle membrane;Cell membrane;Endomembrane system NA PE1 5 +NX_Q96RG2 1323 142929 4.75 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q96RI0 385 41133 9.17 7 Cell membrane NA PE1 19 +NX_Q96RI1 486 55914 6.39 0 Nucleoplasm;Nucleus Cholestasis, progressive familial intrahepatic, 5 PE1 12 +NX_Q96RI8 345 38451 8.28 7 Cell membrane NA PE2 6 +NX_Q96RI9 348 39016 6.22 7 Cell membrane NA PE2 6 +NX_Q96RJ0 339 39092 8.99 7 Cell membrane NA PE2 6 +NX_Q96RJ3 184 18864 8.47 1 Nucleus;Membrane Immunodeficiency, common variable, 4 PE1 22 +NX_Q96RJ6 166 19017 5.11 0 Nucleus NA PE1 7 +NX_Q96RK0 1608 163820 8.74 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus Mental retardation, autosomal dominant 45 PE1 19 +NX_Q96RK1 184 18569 5.38 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 1 +NX_Q96RK4 519 58282 6.9 0 Flagellum;Cytosol;Cytoplasm;Cilium;Cilium membrane;Centriolar satellite;Centrosome Bardet-Biedl syndrome 4 PE1 15 +NX_Q96RL1 719 79727 5.35 0 Nucleus NA PE1 5 +NX_Q96RL6 698 75795 7.28 1 Membrane NA PE1 19 +NX_Q96RL7 3174 360276 5.94 0 NA Choreoacanthocytosis PE1 9 +NX_Q96RM1 72 7805 8.73 0 Cytoplasm NA PE1 1 +NX_Q96RN1 970 109006 5.86 12 Membrane Spermatogenic failure 3 PE1 6 +NX_Q96RN5 788 86753 9.49 0 Cytoplasm;Nucleus NA PE1 22 +NX_Q96RP3 112 12146 11.58 0 Cytoplasmic vesicle;Secreted NA PE1 3 +NX_Q96RP7 486 54166 10.2 1 Cytosol;Golgi stack membrane;Nucleoplasm NA PE1 7 +NX_Q96RP8 456 50559 7.03 6 Membrane NA PE2 19 +NX_Q96RP9 751 83471 6.58 0 Mitochondrion;Nucleus Combined oxidative phosphorylation deficiency 1 PE1 3 +NX_Q96RQ1 377 42549 6.27 2 Endoplasmic reticulum membrane;Nucleolus;Cytoplasm;Cytoplasmic vesicle;cis-Golgi network membrane;Nucleus;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 12 +NX_Q96RQ3 725 80473 7.66 0 Mitochondrion matrix;Mitochondrion 3-methylcrotonoyl-CoA carboxylase 1 deficiency PE1 3 +NX_Q96RQ9 567 62881 8.79 0 Lysosome NA PE1 19 +NX_Q96RR1 684 77154 9.13 0 Mitochondrion nucleoid Perrault syndrome 5;Mitochondrial DNA depletion syndrome 7;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 PE1 10 +NX_Q96RR4 588 64746 6.25 0 Cytosol;Cytoplasm;Nucleus;Cell projection NA PE1 12 +NX_Q96RS0 853 96620 4.84 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cajal body NA PE1 8 +NX_Q96RS6 583 66756 4.99 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 8 +NX_Q96RT1 1412 158298 5.32 0 Nucleus speckle;Basolateral cell membrane;Hemidesmosome;Cell membrane;Nucleus membrane NA PE1 5 +NX_Q96RT6 745 85282 5.85 1 Membrane NA PE1 18 +NX_Q96RT7 1819 200498 5.89 0 Centrosome Microcephaly and chorioretinopathy, autosomal recessive, 1 PE1 22 +NX_Q96RT8 1024 118321 5.58 0 Cytosol;Centrosome NA PE1 15 +NX_Q96RU2 1077 122491 5.1 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q96RU3 617 71307 5.53 0 Lysosome;Cytoplasm;Clathrin-coated pit;Cell membrane;Cytoplasmic vesicle;Cell cortex;Cytoskeleton NA PE1 9 +NX_Q96RU7 358 39578 8.34 0 Nucleus NA PE1 20 +NX_Q96RU8 372 41009 6.86 0 Cell membrane NA PE1 8 +NX_Q96RV3 2341 258676 6.8 10 Nucleoplasm;Membrane NA PE1 14 +NX_Q96RW7 5635 613390 6.07 0 Cytoplasm;Basement membrane;Cell junction;Cleavage furrow Macular degeneration, age-related, 1 PE1 1 +NX_Q96RY5 1269 134718 8.08 0 Cytosol;Nucleolus;Nucleus NA PE1 16 +NX_Q96RY7 1462 165193 5.69 0 Cilium basal body;Cilium;Centrosome Short-rib thoracic dysplasia 9 with or without polydactyly;Retinitis pigmentosa 80 PE1 16 +NX_Q96S06 567 64873 9.42 5 Endoplasmic reticulum membrane Combined lipase deficiency PE1 16 +NX_Q96S07 402 40998 11.09 0 NA NA PE4 16 +NX_Q96S15 920 101989 6.11 0 Cytoplasm;Lysosome membrane NA PE1 16 +NX_Q96S16 264 29509 6.16 0 Cytoplasm;Endoplasmic reticulum lumen NA PE1 16 +NX_Q96S19 204 22578 7.71 0 NA NA PE1 16 +NX_Q96S21 281 31304 9.34 0 Cell membrane NA PE1 16 +NX_Q96S37 553 59630 8.61 12 Cell membrane Hypouricemia renal 1 PE1 11 +NX_Q96S38 1066 118682 4.76 0 Endosome;Lysosome;Cytosol;Cytoplasm;Membrane;Nucleus;Early endosome NA PE1 1 +NX_Q96S42 347 39561 6.5 0 Secreted Heterotaxy, visceral, 5, autosomal PE1 10 +NX_Q96S44 253 28160 9.56 0 Cytoplasm;Nucleus Galloway-Mowat syndrome 4 PE1 20 +NX_Q96S52 555 61656 6.05 2 Endoplasmic reticulum membrane NA PE1 17 +NX_Q96S53 571 63639 6.63 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q96S55 665 72133 5.73 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 6 +NX_Q96S59 729 77847 6.31 0 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA PE1 6 +NX_Q96S65 589 63508 4.61 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 3 +NX_Q96S66 551 62023 5.36 3 Nucleus;Golgi apparatus;Endoplasmic reticulum;Membrane NA PE1 1 +NX_Q96S79 203 23229 9.55 0 Cytoplasmic vesicle;Cell membrane NA PE2 17 +NX_Q96S82 380 40510 4.88 0 Nucleoplasm;Cytosol NA PE1 15 +NX_Q96S86 360 40894 6.07 0 Cytosol;Cell membrane;Extracellular matrix NA PE1 15 +NX_Q96S90 227 25003 8.59 0 Nucleus NA PE1 1 +NX_Q96S94 520 58147 10.27 0 Nucleoplasm;Nucleus speckle NA PE1 1 +NX_Q96S95 79 8658 5.32 0 Cytosol;Nucleus;Centrosome NA PE1 3 +NX_Q96S96 227 25733 6.08 0 Lysosome NA PE1 8 +NX_Q96S97 322 35274 8.53 8 Nucleus speckle;Membrane NA PE1 19 +NX_Q96S99 279 31195 8.59 0 Perinuclear region;Nucleus;Lysosome NA PE1 19 +NX_Q96SA4 455 50742 5.81 11 Membrane NA PE1 1 +NX_Q96SB3 815 89192 4.91 0 Synapse;Filopodium;Cytoplasm;Lamellipodium;Cell membrane;Nucleus;Dendritic spine;Ruffle membrane;Adherens junction;Cytoskeleton NA PE1 17 +NX_Q96SB4 655 74325 5.81 0 Cytosol;Cytoplasm;Microsome;Cell membrane;Nucleus;Nucleus matrix NA PE1 6 +NX_Q96SB8 1091 126326 6.57 0 PML body;Nucleus speckle;Nucleoplasm;Cytoplasm;Telomere;Nucleus;Chromosome NA PE1 2 +NX_Q96SC8 542 53356 8.05 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 1 +NX_Q96SD1 692 78436 5.69 0 Nucleoplasm;Nucleus;Golgi apparatus Omenn syndrome;Severe combined immunodeficiency Athabaskan type;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation PE1 10 +NX_Q96SE0 405 45207 5.8 1 Membrane NA PE1 2 +NX_Q96SE7 839 95770 9.34 0 Cytoskeleton;Nucleus NA PE1 19 +NX_Q96SF2 557 59388 5.49 0 Cytoplasm NA PE1 22 +NX_Q96SF7 602 65757 7.05 0 Nucleoplasm;Nucleus;Centrosome Cousin syndrome PE1 1 +NX_Q96SI1 283 31942 7.05 0 Nucleoplasm;Golgi apparatus NA PE1 19 +NX_Q96SI9 672 73653 8.91 0 Cytoplasm;Nucleus NA PE1 9 +NX_Q96SJ8 248 27710 4.9 4 Membrane NA PE1 11 +NX_Q96SK2 561 62922 8.8 2 Cytoplasmic vesicle;Nucleus speckle;Nucleus membrane;Membrane NA PE1 7 +NX_Q96SK3 696 80507 8.93 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q96SL1 478 52088 8.85 12 Cytoplasmic vesicle;Lysosome membrane NA PE1 3 +NX_Q96SL4 187 20996 8.42 0 Nucleolus;Secreted Barrett esophagus PE1 1 +NX_Q96SL8 496 51996 8.59 0 Cytoplasm;Nucleus NA PE1 19 +NX_Q96SM3 734 81668 6.19 0 Secreted NA PE1 20 +NX_Q96SN7 254 28570 8.7 4 Nucleus;Membrane NA PE1 7 +NX_Q96SN8 1893 215038 5.44 0 Cytoplasm;Cytoskeleton;Cell junction;Golgi apparatus;Centrosome Microcephaly 3, primary, autosomal recessive PE1 9 +NX_Q96SQ5 575 65622 9.2 0 Nucleus NA PE1 19 +NX_Q96SQ7 321 34644 10.24 0 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA PE2 2 +NX_Q96SQ9 504 55817 8.8 0 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum NA PE1 19 +NX_Q96SR6 550 64010 9.42 0 Nucleus speckle;Nucleus NA PE1 19 +NX_Q96ST2 819 91955 4.58 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q96ST3 1273 145175 6.82 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 15 +NX_Q96ST8 783 89590 6.36 0 Cytosol;Cell membrane;Centrosome;Centriole;Mitochondrion intermembrane space;Spindle pole NA PE1 19 +NX_Q96SU4 736 83185 5.77 0 Cytoplasmic vesicle;Cytoplasm;Late endosome membrane;trans-Golgi network membrane;Golgi apparatus NA PE1 1 +NX_Q96SW2 442 50546 5.41 0 Cytoplasm;Nucleolus;Nucleus;Membrane Mental retardation, autosomal recessive 2A PE1 3 +NX_Q96SY0 518 57471 4.99 0 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus;Nucleus membrane NA PE1 15 +NX_Q96SZ4 725 80387 9.17 0 Nucleus NA PE1 16 +NX_Q96SZ5 270 29751 5.68 0 NA NA PE1 10 +NX_Q96SZ6 601 67689 8.52 0 Mitochondrion;Nucleus speckle NA PE1 20 +NX_Q96T17 732 81965 8.95 0 Cytosol;Nucleoplasm NA PE1 X +NX_Q96T21 854 95462 8.31 0 Mitochondrion;Nucleoplasm;Nucleus Abnormal thyroid hormone metabolism PE1 9 +NX_Q96T23 1441 163821 4.94 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q96T25 663 68448 9.01 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 13 +NX_Q96T37 977 107189 10.09 0 Nucleoplasm;Nucleus speckle;Nucleus envelope;Nucleus membrane NA PE1 1 +NX_Q96T49 567 63551 6.06 0 Nucleus;Cell projection;Cell membrane;Nucleus speckle NA PE1 20 +NX_Q96T51 708 79818 5.54 0 Cytosol;Cytoplasmic vesicle;Early endosome membrane;Nucleus;Cytoplasm NA PE1 5 +NX_Q96T52 175 19718 9.43 1 Mitochondrion;Mitochondrion inner membrane Gilles de la Tourette syndrome PE1 7 +NX_Q96T53 435 49716 8.82 7 Endoplasmic reticulum membrane;Golgi apparatus NA PE1 8 +NX_Q96T54 332 36895 8.61 4 Membrane NA PE2 6 +NX_Q96T55 309 34153 8.94 4 Membrane NA PE1 6 +NX_Q96T58 3664 402248 7.35 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q96T59 188 20651 8.31 0 NA NA PE1 17 +NX_Q96T60 521 57076 8.73 0 Nucleolus;Nucleus Microcephaly, seizures, and developmental delay;Ataxia-oculomotor apraxia 4 PE1 19 +NX_Q96T66 252 28322 9.28 0 Mitochondrion NA PE1 3 +NX_Q96T68 719 81894 7.62 0 Nucleoplasm;Nucleus;Chromosome NA PE1 13 +NX_Q96T75 97 10969 8.71 0 NA NA PE1 21 +NX_Q96T76 1030 113290 5.92 0 Nucleoplasm;Spindle;Nucleus NA PE1 10 +NX_Q96T83 725 80131 5.97 13 Cytoplasmic vesicle;trans-Golgi network membrane;Recycling endosome membrane NA PE1 X +NX_Q96T88 793 89814 7.66 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q96T91 129 14163 8.58 0 Secreted NA PE1 11 +NX_Q96T92 566 59491 9.46 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 14 +NX_Q96TA0 734 80449 4.84 1 Cell membrane NA PE5 5 +NX_Q96TA1 746 84138 5.82 0 Cytosol;Adherens junction;Nucleoplasm;Cell membrane;Membrane NA PE1 9 +NX_Q96TA2 773 86455 8.86 1 Mitochondrion;Nucleus;Mitochondrion inner membrane Optic atrophy 11 PE1 10 +NX_Q96TC7 470 52118 5.02 1 Cytoplasm;Mitochondrion outer membrane;Nucleus;Mitochondrion;Spindle;Spindle pole;Mitochondrion membrane NA PE1 15 +NX_Q99062 836 92156 5.76 1 Cell membrane;Secreted Hereditary neutrophilia;Neutropenia, severe congenital 7, autosomal recessive PE1 1 +NX_Q99075 208 23067 9.47 1 Extracellular space;Cell membrane NA PE1 5 +NX_Q99081 682 72965 6.52 0 Nucleoplasm;Nucleus speckle;Nucleus Craniosynostosis 3 PE1 15 +NX_Q99102 2169 231518 5.85 1 Membrane;Cell membrane;Secreted NA PE1 3 +NX_Q99217 191 21603 6.51 0 Extracellular matrix Amelogenesis imperfecta 1E PE1 X +NX_Q99218 206 23250 6.92 0 Extracellular matrix NA PE2 Y +NX_Q99250 2005 227975 5.56 24 Cell membrane Epileptic encephalopathy, early infantile, 11;Seizures, benign familial infantile, 3 PE1 2 +NX_Q99259 594 66897 7.54 0 Cytoplasmic vesicle Cerebral palsy, spastic quadriplegic 1 PE1 2 +NX_Q99417 103 11967 5.71 0 Mitochondrion;Cytoplasm;Nucleus NA PE1 1 +NX_Q99418 400 46546 5.43 0 Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Adherens junction;Cell projection;Growth cone;Tight junction NA PE1 19 +NX_Q99424 681 76827 7.32 0 Cytosol;Cytoplasmic vesicle;Peroxisome Congenital bile acid synthesis defect 6 PE1 3 +NX_Q99426 244 27326 5.06 0 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA PE1 19 +NX_Q99435 816 91346 5.44 0 Cytoplasmic vesicle;Secreted NA PE1 12 +NX_Q99436 277 29965 7.58 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 9 +NX_Q99437 205 21406 7.61 5 Cytosol;Vacuole membrane NA PE1 1 +NX_Q99439 309 33697 6.94 0 Cytosol;Nucleoplasm;Cytoskeleton NA PE1 19 +NX_Q99440 93 10499 8.85 0 NA NA PE2 4 +NX_Q99442 399 45862 6.67 2 Endoplasmic reticulum membrane;Cytoskeleton;Endoplasmic reticulum NA PE1 3 +NX_Q99445 158 17730 6.1 0 Cell membrane NA PE2 8 +NX_Q99447 389 43835 6.44 0 Cytoskeleton;Centrosome NA PE1 17 +NX_Q99453 314 31621 9.02 0 Nucleoplasm;Nucleus Congenital central hypoventilation syndrome;Neuroblastoma 2 PE1 4 +NX_Q99456 494 53511 4.71 0 NA Corneal dystrophy, Meesmann PE1 17 +NX_Q99457 506 57593 5.01 0 Cytoplasmic vesicle;Nucleus NA PE1 X +NX_Q99459 802 92251 8.22 0 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA PE1 6 +NX_Q99460 953 105836 5.25 0 Nucleoplasm;Cytoskeleton NA PE1 2 +NX_Q99463 290 33180 9.26 6 Membrane NA PE5 5 +NX_Q99466 2003 209622 5.43 1 Nucleus;Cell membrane NA PE1 6 +NX_Q99467 661 74179 5.96 1 Cell membrane NA PE1 5 +NX_Q99469 402 44554 8.74 0 Nucleoplasm;Cytosol;Sarcolemma;Cell membrane NA PE1 3 +NX_Q99470 211 23026 6.83 0 Cytoplasmic vesicle;Secreted NA PE1 17 +NX_Q99471 154 17328 5.94 0 Cytoplasm;Nucleus NA PE1 12 +NX_Q99487 392 44036 6.43 0 Endoplasmic reticulum membrane;Cytoplasm;Membrane NA PE1 1 +NX_Q99489 341 37535 8.07 0 Cytosol;Peroxisome NA PE1 6 +NX_Q99490 1192 124674 9.91 0 Mitochondrion;Cytoplasm;Nucleolus;Nucleus NA PE1 12 +NX_Q99496 336 37655 6.38 0 Nucleoplasm;Nucleus;Chromosome NA PE1 1 +NX_Q99497 189 19891 6.33 0 Cytosol;Cytoplasm;Cell membrane;Nucleus;Mitochondrion;Membrane raft Parkinson disease 7 PE1 1 +NX_Q99500 378 42250 9.78 7 Cell membrane NA PE1 9 +NX_Q99501 681 72717 10.1 0 Cytoskeleton;Cell junction;Cell membrane NA PE1 22 +NX_Q99502 592 64593 5.79 0 Nucleoplasm;Cytoplasm;Nucleus Otofaciocervical syndrome 1;Anterior segment anomalies with or without cataract;Branchiootic syndrome 1;Branchiootorenal syndrome 1 PE1 8 +NX_Q99504 573 62663 5.06 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q99518 471 53644 6.8 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 1 +NX_Q99519 415 45467 5.59 0 Lysosome lumen;Lysosome membrane;Lysosome;Cell membrane;Cytoplasmic vesicle;Cell junction Sialidosis PE1 6 +NX_Q99523 831 92068 5.46 1 Endoplasmic reticulum membrane;Golgi stack membrane;Lysosome membrane;Nucleus membrane;Golgi apparatus;Cytosol;Cell membrane;Endosome membrane;Membrane NA PE1 1 +NX_Q99525 98 11009 11.06 0 Nucleus;Chromosome NA PE1 6 +NX_Q99527 375 42248 8.63 7 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cytoskeleton;Basolateral cell membrane;Cytoplasm;Dendritic spine membrane;Cell membrane;Axon;Dendrite;Perinuclear region;Nucleus;trans-Golgi network;Early endosome;Postsynaptic density;Recycling endosome;Cytoplasmic vesicle membrane;Mitochondrion membrane NA PE1 7 +NX_Q99536 393 41920 5.88 0 Cytoplasm;Mitochondrion outer membrane NA PE1 17 +NX_Q99538 433 49411 6.07 0 Nucleoplasm;Cytoplasmic vesicle;Lysosome NA PE1 14 +NX_Q99541 437 48075 6.34 0 Lipid droplet;Membrane NA PE1 9 +NX_Q99542 508 57357 7.22 0 Cytoplasmic vesicle;Endoplasmic reticulum;Extracellular matrix Cavitary optic disc anomalies PE1 12 +NX_Q99543 621 71996 8.85 0 Cytosol;Nucleus NA PE1 7 +NX_Q99547 160 19024 5.15 0 Cytoplasm;Nucleolus;Nucleus NA PE1 16 +NX_Q99549 860 97182 5.81 0 Cytosol;Nucleus;Cell membrane;Chromosome NA PE1 13 +NX_Q99550 1183 133024 5.87 0 Centriole;Cytosol;Nucleus;Cell membrane;Golgi apparatus membrane NA PE1 12 +NX_Q99551 399 45778 9.49 0 Mitochondrion NA PE1 7 +NX_Q99558 947 104042 7.77 0 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus;Cytosol NA PE1 17 +NX_Q99567 741 83542 5.47 0 Nucleoplasm;Nuclear pore complex NA PE1 17 +NX_Q99569 1192 131868 9.07 0 Desmosome;Spindle;Midbody;Cell membrane;Cell junction NA PE1 2 +NX_Q99570 1358 153103 6.74 0 Cytoplasmic vesicle;Cytoskeleton;Late endosome;Autophagosome;Membrane NA PE1 3 +NX_Q99571 388 43369 8.29 2 Cytosol;Cytoskeleton;Membrane NA PE1 12 +NX_Q99572 595 68585 8.57 2 Cell membrane;Golgi apparatus NA PE1 12 +NX_Q99574 410 46427 4.84 0 Cytosol;Secreted;Perikaryon;Secretory vesicle lumen Encephalopathy, familial, with neuroserpin inclusion bodies PE1 3 +NX_Q99575 1024 114709 9.36 0 Nucleolus Anauxetic dysplasia 2 PE1 8 +NX_Q99576 134 14810 4.51 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleus speckle NA PE1 X +NX_Q99578 217 24668 6.14 0 Nucleus;Cell membrane NA PE1 18 +NX_Q99581 238 25030 9.28 0 Nucleus speckle;Nucleus Sudden infant death syndrome PE1 2 +NX_Q99583 582 62300 8.79 0 Nucleoplasm;Nucleus NA PE1 17 +NX_Q99584 98 11471 5.9 0 Nucleolus;Secreted;Cytosol;Cytoplasm;Cell membrane;Nucleus NA PE1 1 +NX_Q99590 1463 164652 8.69 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q99592 522 58354 5.41 0 Nucleus Mental retardation, autosomal dominant 22 PE1 1 +NX_Q99593 518 57711 7.14 0 Nucleoplasm;Cytoplasm;Nucleus Holt-Oram syndrome PE1 12 +NX_Q99594 435 48676 8.49 0 Nucleus NA PE1 6 +NX_Q99595 171 18024 7.72 3 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA PE1 1 +NX_Q99598 290 33112 6.1 0 Nucleoplasm;Cytosol;Perinuclear region;Nucleus;Golgi apparatus NA PE1 1 +NX_Q99607 663 70730 5.41 0 Nucleoplasm;PML body;Nucleus NA PE1 X +NX_Q99608 321 36086 8.81 0 Nucleoplasm;Cytosol;Nucleus;Perikaryon NA PE1 15 +NX_Q99611 448 47305 5.63 0 Nucleoplasm NA PE1 16 +NX_Q99612 283 31865 6.46 0 Cytosol;Cytoplasmic vesicle;Nucleolus;Nucleus Gastric cancer;Prostate cancer PE1 10 +NX_Q99613 913 105344 5.48 0 Cytoplasm NA PE1 16 +NX_Q99614 292 33526 4.78 0 Cytosol;Cytoplasm NA PE1 5 +NX_Q99615 494 56441 6.56 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Nucleoplasm NA PE1 17 +NX_Q99616 98 10986 9.94 0 Secreted NA PE1 17 +NX_Q99618 268 28998 6.02 0 Cytosol NA PE1 12 +NX_Q99619 263 28630 8.32 0 Cytosol;Cytoplasm NA PE1 12 +NX_Q99622 126 13178 5.04 0 Nucleus speckle;Cytoplasm Temtamy syndrome PE1 12 +NX_Q99623 299 33296 9.83 0 Mitochondrion inner membrane;Cytoplasm;Mitochondrion;Nucleus NA PE1 12 +NX_Q99624 504 55773 8.03 10 Cytosol;Cytoskeleton;Cell membrane NA PE1 3 +NX_Q99626 313 33520 9.65 0 Nucleoplasm;Nucleus NA PE1 13 +NX_Q99627 209 23226 5.25 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 2 +NX_Q99633 342 39860 8.19 0 Cytosol;Nucleus speckle NA PE1 10 +NX_Q99638 391 42547 5.41 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q99640 499 54521 6.48 0 Endoplasmic reticulum membrane;Nucleus;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA PE1 16 +NX_Q99643 169 18610 9.74 3 Mitochondrion inner membrane Paraganglioma and gastric stromal sarcoma;Paragangliomas 3 PE1 1 +NX_Q99645 322 36637 4.67 0 Extracellular matrix NA PE1 12 +NX_Q99650 979 110509 5.54 1 Nucleolus;Membrane Amyloidosis, primary localized cutaneous, 1 PE1 5 +NX_Q99653 195 22456 4.98 0 Endoplasmic reticulum-Golgi intermediate compartment;Cytoplasm;Endoplasmic reticulum;Endomembrane system;Cytoplasmic vesicle;Nucleus;Cell membrane;Membrane;Cytoskeleton NA PE1 15 +NX_Q99661 725 81313 8.03 0 Kinetochore;Nucleoplasm;Centrosome;Nucleus;Cytoskeleton;Centromere;Midbody NA PE1 1 +NX_Q99665 862 97135 7.91 1 Cytosol;Cell membrane;Membrane NA PE1 1 +NX_Q99666 1765 198924 6.03 0 Cytoplasm;Nucleus envelope NA PE1 2 +NX_Q99674 301 31905 4.35 0 Secreted NA PE1 2 +NX_Q99675 332 38242 5.05 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Endoplasmic reticulum NA PE1 14 +NX_Q99676 751 86174 8.41 0 Nucleus NA PE1 6 +NX_Q99677 370 41895 9.28 7 Cytoplasmic vesicle;Nucleus;Cell membrane NA PE1 X +NX_Q99678 358 38650 9.36 7 Cell membrane NA PE1 8 +NX_Q99679 349 39515 7.87 7 Cell membrane NA PE2 9 +NX_Q99680 433 49265 9.43 7 Cell membrane NA PE2 7 +NX_Q99683 1374 154537 5.52 0 Cytosol;Cytoplasm;Endoplasmic reticulum NA PE1 6 +NX_Q99684 422 45297 9.24 0 Nucleus Neutropenia, severe congenital 2, autosomal dominant;Dominant nonimmune chronic idiopathic neutropenia of adults PE1 1 +NX_Q99685 303 33261 6.49 0 Cytosol;Nucleoplasm;Membrane NA PE1 3 +NX_Q99687 375 41115 5 0 Nucleus NA PE2 19 +NX_Q99689 392 45119 4.24 0 Cytosol;Cytoskeleton;Centrosome;Cell membrane NA PE1 11 +NX_Q99697 317 35370 9.53 0 Nucleus Anterior segment dysgenesis 4;Axenfeld-Rieger syndrome 1;Ring dermoid of cornea PE1 4 +NX_Q99698 3801 429139 6.15 0 Nucleoplasm;Cytoplasm;Cell membrane;Microtubule organizing center Chediak-Higashi syndrome PE1 1 +NX_Q99700 1313 140283 9.6 0 Cytosol;Cytoplasm Amyotrophic lateral sclerosis 13;Spinocerebellar ataxia 2 PE1 12 +NX_Q99704 481 52392 6.05 0 Cytosol;Cytoplasm;Perinuclear region;Nucleus NA PE1 2 +NX_Q99705 422 45963 9.23 7 Cell membrane NA PE1 22 +NX_Q99706 377 41487 7.29 1 Early endosome membrane;Cell membrane NA PE1 19 +NX_Q99707 1265 140527 5.39 0 Cytosol;Cytoplasm Homocystinuria-megaloblastic anemia, cblG complementation type;Neural tube defects, folate-sensitive PE1 1 +NX_Q99708 897 101942 5.92 0 Nucleoplasm;Nucleus;Chromosome Seckel syndrome 2;Jawad syndrome PE1 18 +NX_Q99712 375 42577 7.6 2 Cytoplasmic vesicle;Cytosol;Cell membrane;Membrane NA PE1 21 +NX_Q99714 261 26923 7.65 0 Mitochondrion HDS10 mitochondrial disease;Mental retardation, X-linked 17 PE1 X +NX_Q99715 3063 333147 5.38 0 Nucleus;Extracellular matrix Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 PE1 6 +NX_Q99717 465 52258 7.63 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 5 +NX_Q99719 369 42777 6.21 0 Nucleoplasm;Cytosol;Cytoskeleton;Cytoplasm NA PE1 22 +NX_Q99720 223 25128 5.61 1 Endoplasmic reticulum membrane;Nucleus outer membrane;Lipid droplet;Nucleus envelope;Cell membrane;Growth cone;Cytoplasmic vesicle;Membrane;Postsynaptic density;Nucleus inner membrane;Cell junction Amyotrophic lateral sclerosis 16, juvenile;Distal spinal muscular atrophy, autosomal recessive, 2 PE1 9 +NX_Q99726 388 41945 6 6 Synaptosome;Synaptic vesicle membrane;Lysosome membrane;Cytosol;Nucleolus;Cytoplasmic vesicle;Late endosome membrane;Nucleus;Synaptic vesicle NA PE1 2 +NX_Q99727 224 25503 7.95 0 Secreted NA PE1 3 +NX_Q99728 777 86648 8.99 0 Cytoplasm;Nucleus;Nucleus speckle NA PE1 2 +NX_Q99729 332 36225 8.21 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 5 +NX_Q99731 98 10993 9.84 0 Secreted NA PE1 9 +NX_Q99732 161 17107 5.99 0 Endosome membrane;Lysosome membrane;Cytosol;Cytoplasm;Early endosome membrane;Cell membrane;Cytoplasmic vesicle;Nucleoplasm;Late endosome membrane;Golgi apparatus membrane;Nucleus Charcot-Marie-Tooth disease 1C PE1 16 +NX_Q99733 375 42823 4.6 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 11 +NX_Q99735 147 16621 9.6 3 Nucleoplasm;Microsome membrane;Endoplasmic reticulum membrane NA PE1 4 +NX_Q99741 560 62720 9.64 0 Cytosol;Cytoplasm;Spindle;Nucleus;Cytoskeleton Meier-Gorlin syndrome 5 PE1 17 +NX_Q99742 590 62702 8.61 0 Nucleoplasm;Nucleus NA PE2 19 +NX_Q99743 824 91791 6.35 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q99747 312 34746 5.3 0 Cytosol;Cell membrane;Membrane NA PE1 18 +NX_Q99748 197 22405 10.92 0 Secreted NA PE1 19 +NX_Q99750 246 25029 4.29 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 6 +NX_Q99755 562 62633 8.41 0 Nucleus speckle;Ruffle;Cytoplasm;Cell membrane;Nucleus;Lamellipodium NA PE1 1 +NX_Q99757 166 18383 8.46 0 Mitochondrion Combined oxidative phosphorylation deficiency 29 PE1 22 +NX_Q99758 1704 191362 7.55 14 Nucleoplasm;Cytosol;Membrane Pulmonary surfactant metabolism dysfunction 3 PE1 16 +NX_Q99759 626 70898 8.98 0 Nucleoplasm;Cytoplasm NA PE1 17 +NX_Q99766 215 24866 7.51 0 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane NA PE1 14 +NX_Q99767 749 82512 4.77 0 NA NA PE1 15 +NX_Q99784 485 55343 6.48 0 Synapse;Nucleolus;Perikaryon;Secreted;Cytosol;Endoplasmic reticulum;Axon;Nucleus NA PE1 9 +NX_Q99788 373 42322 8.71 7 Cell membrane NA PE1 12 +NX_Q99795 319 35632 4.85 1 Membrane NA PE1 1 +NX_Q99797 713 80641 6.6 0 Mitochondrion;Mitochondrion matrix Combined oxidative phosphorylation deficiency 31 PE1 13 +NX_Q99798 780 85425 7.36 0 Mitochondrion Infantile cerebellar-retinal degeneration;Optic atrophy 9 PE1 22 +NX_Q99801 234 26350 9.23 0 Nucleus NA PE1 8 +NX_Q99805 663 75776 7.22 9 Endosome membrane;Cytoplasm;Cell membrane NA PE1 13 +NX_Q99807 217 24277 8.77 0 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane;Cell membrane Coenzyme Q10 deficiency, primary, 8 PE1 16 +NX_Q99808 456 50219 8.62 11 Apical cell membrane;Basolateral cell membrane;Cell membrane NA PE1 6 +NX_Q99811 253 27079 10.15 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q99814 870 96459 5.87 0 Cytosol;Nucleoplasm;Nucleus;Nucleus speckle Erythrocytosis, familial, 4 PE1 2 +NX_Q99816 390 43944 6.06 0 Nucleolus;Cytosol;Cytoplasm;Early endosome membrane;Midbody ring;Cell membrane;Late endosome membrane;Nucleus;Centrosome NA PE1 11 +NX_Q99819 225 25098 5.45 0 Cytosol;Cytoplasm;Cell membrane NA PE1 16 +NX_Q99828 191 21703 4.65 0 Sarcolemma;Apical cell membrane;trans-Golgi network;Nucleoplasm;Cytoplasm;Filopodium tip;Cell membrane;Growth cone;Perinuclear region;Nucleus;Ruffle membrane;Membrane;Lamellipodium;Cytoskeleton;Centrosome NA PE1 15 +NX_Q99829 537 59059 5.52 0 Nucleoplasm;Cytoplasm;Nucleus;Nucleus membrane;Cell membrane NA PE1 20 +NX_Q99832 543 59367 7.55 0 Cytosol;Cytoplasm NA PE1 2 +NX_Q99835 787 86397 8.71 7 Cilium;Membrane Curry-Jones syndrome PE1 7 +NX_Q99836 296 33233 5.89 0 Cytosol;Cytoplasm;Mitochondrion;Nucleus;Cytoplasmic vesicle MYD88 deficiency PE1 3 +NX_Q99848 306 34852 10.1 0 Nucleolus NA PE1 1 +NX_Q99853 325 34978 9.66 0 Mitochondrion;Nucleoplasm;Nucleus NA PE1 15 +NX_Q99856 593 62889 4.84 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Cytosol NA PE1 19 +NX_Q99865 258 29188 6.72 0 Nucleus NA PE1 X +NX_Q99871 368 40778 4.73 0 Nucleolus;Cytosol;Cytoplasm;Cell membrane;Nucleus;Spindle;Centrosome NA PE1 X +NX_Q99873 371 42462 5.18 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 19 +NX_Q99877 126 13922 10.31 0 Nucleus;Chromosome NA PE1 6 +NX_Q99878 128 13936 10.88 0 Nucleus;Chromosome NA PE1 6 +NX_Q99879 126 13989 10.31 0 Nucleus;Chromosome NA PE1 6 +NX_Q99880 126 13952 10.31 0 Nucleus;Chromosome NA PE1 6 +NX_Q99884 636 70911 6.22 12 Cytoplasm;Cell membrane;Membrane NA PE1 5 +NX_Q99895 268 29484 7.54 0 NA Pancreatitis, hereditary PE1 1 +NX_Q99909 188 21697 8.82 0 NA NA PE1 X +NX_Q99928 467 54289 7.46 4 Postsynaptic cell membrane;Cell membrane NA PE2 15 +NX_Q99929 193 20185 11.18 0 Nucleus NA PE1 11 +NX_Q99932 426 44819 5.31 0 Cytoplasm;Spindle;Nucleus;Acrosome;Microtubule organizing center NA PE1 9 +NX_Q99933 345 38779 7.68 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 9 +NX_Q99935 248 27217 10.42 0 Secreted NA PE1 4 +NX_Q99941 703 76709 5.9 1 Endoplasmic reticulum membrane;Nucleolus;Nucleus NA PE1 6 +NX_Q99942 180 19881 6.2 2 Endoplasmic reticulum membrane;Endoplasmic reticulum;Mitochondrion membrane;Membrane NA PE1 6 +NX_Q99943 283 31717 9.48 3 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum NA PE1 6 +NX_Q99944 293 32262 6.37 0 Cytoplasmic vesicle;Nucleus speckle;Secreted NA PE1 6 +NX_Q99946 306 31430 7.26 2 Synapse;Cell membrane NA PE1 6 +NX_Q99952 460 50482 8.57 0 Cytoplasm;Cytoskeleton;Nucleus NA PE1 2 +NX_Q99954 134 14048 9.62 0 Secreted NA PE1 4 +NX_Q99956 384 41868 5.8 0 Cytoplasm;Endoplasmic reticulum NA PE1 X +NX_Q99958 501 53719 8.68 0 Nucleoplasm;Nucleus Lymphedema-distichiasis PE1 16 +NX_Q99959 881 97415 9.39 0 Nucleoplasm;Desmosome;Nucleus;Cell junction Arrhythmogenic right ventricular dysplasia, familial, 9 PE1 12 +NX_Q99961 368 41490 5.31 0 Cytosol;Cytoplasm;Early endosome membrane;Podosome NA PE1 19 +NX_Q99962 352 39962 5.32 0 Cytoplasm;Spindle;Membrane;Cytoskeleton;Early endosome NA PE1 9 +NX_Q99963 347 39285 5.27 0 Cytoplasm;Early endosome membrane NA PE1 15 +NX_Q99965 735 82457 5.77 1 Membrane NA PE1 8 +NX_Q99966 193 19896 4.63 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 X +NX_Q99967 270 28497 6.42 0 Nucleoplasm;Nucleus Ventricular septal defect 2;Atrial septal defect 8 PE1 6 +NX_Q99969 163 18618 9.3 0 Cytosol;Secreted NA PE1 7 +NX_Q99972 504 56972 5.44 0 Extracellular space;Rough endoplasmic reticulum;Golgi apparatus;Secreted;Extracellular matrix;Exosome;Endoplasmic reticulum;Mitochondrion outer membrane;Cytoplasmic vesicle;Mitochondrion inner membrane;Mitochondrion intermembrane space;Mitochondrion;Cell projection;Cilium Glaucoma 1, open angle, A;Glaucoma 3, primary congenital, A PE1 1 +NX_Q99973 2627 290490 8.26 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Telomere NA PE1 14 +NX_Q99983 421 49492 5.34 0 Nucleolus;Endoplasmic reticulum;Extracellular matrix NA PE1 9 +NX_Q99985 751 85207 8.96 0 Cytosol;Cell membrane;Golgi apparatus;Secreted NA PE1 7 +NX_Q99986 396 45476 9.02 0 Cytosol;Cytoplasm;Spindle;Nucleus Pontocerebellar hypoplasia 1A PE1 14 +NX_Q99988 308 34140 9.79 0 Golgi apparatus;Secreted NA PE1 19 +NX_Q99990 258 28707 9.26 0 Nucleus NA PE1 X +NX_Q99996 3907 452987 4.95 0 Cytoplasmic vesicle;Cytoplasm;Centrosome;Golgi apparatus Long QT syndrome 11 PE1 7 +NX_Q99999 423 48764 8.84 1 Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 22 +NX_Q9BPU6 564 61421 6.73 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 2 +NX_Q9BPU9 175 19261 7.14 0 Nucleus;Cilium axoneme;Cilium basal body Meckel syndrome 10;Joubert syndrome 34 PE1 19 +NX_Q9BPV8 354 40789 9.94 7 Cell membrane NA PE1 3 +NX_Q9BPW4 351 39164 7.78 0 Cytoplasmic vesicle;Secreted NA PE1 22 +NX_Q9BPW5 248 27508 9.28 0 Nucleus NA PE2 4 +NX_Q9BPW8 284 33310 9.35 0 NA NA PE1 22 +NX_Q9BPW9 319 35227 8.78 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 2 +NX_Q9BPX1 270 28317 5.8 0 Cytoplasm NA PE1 19 +NX_Q9BPX3 1015 114334 5.44 0 Cytoplasm;Nucleus;Chromosome NA PE1 4 +NX_Q9BPX5 153 16941 6.15 0 Cytoskeleton NA PE1 9 +NX_Q9BPX6 476 54351 8.61 1 Mitochondrion;Mitochondrion inner membrane;Mitochondrion intermembrane space Myopathy with extrapyramidal signs PE1 10 +NX_Q9BPX7 421 46451 6 0 Cytosol;Nucleoplasm NA PE1 7 +NX_Q9BPY3 351 39499 5.65 0 Cytosol;Cajal body;Cytoskeleton NA PE1 11 +NX_Q9BPY8 73 8260 4.8 0 Cytoplasm;Cytoskeleton;Nucleus NA PE1 4 +NX_Q9BPZ2 258 29158 6.72 0 Nucleus NA PE1 X +NX_Q9BPZ3 127 14984 4.03 0 Cytoplasmic vesicle;Cytoplasm NA PE1 5 +NX_Q9BPZ7 522 59123 7.24 0 Nucleoplasm;Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane NA PE1 9 +NX_Q9BQ04 359 40150 6.28 0 Nucleolus;Nucleus NA PE1 11 +NX_Q9BQ08 111 11730 7.44 0 Secreted NA PE2 3 +NX_Q9BQ13 255 29591 8.78 0 NA NA PE1 11 +NX_Q9BQ15 211 22338 9.17 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q9BQ16 436 49429 4.79 0 Nucleolus;Nucleus;Golgi apparatus;Extracellular matrix NA PE1 4 +NX_Q9BQ24 234 26506 8.78 0 Cytoplasmic vesicle;Cytoplasm;Endosome;Focal adhesion NA PE1 14 +NX_Q9BQ31 491 56001 4.92 6 Cytosol;Golgi apparatus;Cell membrane NA PE1 2 +NX_Q9BQ39 737 82565 9.26 0 Nucleolus NA PE1 10 +NX_Q9BQ48 92 10165 12.25 0 Nucleoplasm;Cytoplasmic vesicle;Mitochondrion;Nucleus NA PE1 19 +NX_Q9BQ49 75 8631 7.9 1 Golgi apparatus;Membrane NA PE1 19 +NX_Q9BQ50 279 30621 6.37 0 Nucleus NA PE1 X +NX_Q9BQ51 273 30957 8.18 1 Cytosol;Endomembrane system;Cell membrane;Secreted NA PE1 9 +NX_Q9BQ52 826 92219 8.13 0 Nucleoplasm;Mitochondrion;Nucleus Combined oxidative phosphorylation deficiency 17;Prostate cancer, hereditary, 2 PE1 17 +NX_Q9BQ61 176 18419 9.46 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q9BQ65 265 30268 6.06 0 Nucleus Poikiloderma with neutropenia PE1 16 +NX_Q9BQ66 201 21407 8.37 0 NA NA PE1 17 +NX_Q9BQ67 446 49419 4.82 0 Nucleolus;Nucleus;Chromosome NA PE1 19 +NX_Q9BQ69 325 35505 9.58 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q9BQ70 676 76667 5.96 0 Nucleus NA PE1 16 +NX_Q9BQ75 279 31884 9.26 0 Mitochondrion;Nucleolus;Nucleus;Nucleus membrane NA PE1 3 +NX_Q9BQ83 275 30771 6.59 0 Nucleoplasm;Nucleus NA PE1 16 +NX_Q9BQ87 522 56688 5.33 0 Nucleus NA PE1 Y +NX_Q9BQ89 295 31271 10.46 0 Cytosol;Cytoplasm;Spindle pole;Cytoplasmic vesicle;Nucleus;Centrosome NA PE1 20 +NX_Q9BQ90 382 43088 8.37 0 Nucleoplasm;Cytoplasm NA PE1 6 +NX_Q9BQ95 431 49148 5.89 0 Cytosol;Nucleoplasm;Mitochondrion;Nucleus;Cytoplasm NA PE1 19 +NX_Q9BQA1 342 36724 5.03 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Golgi apparatus NA PE1 1 +NX_Q9BQA5 517 59678 5.77 0 Nucleus NA PE1 11 +NX_Q9BQA9 187 20774 6.3 1 Endoplasmic reticulum membrane;Cell junction;Cell membrane NA PE1 17 +NX_Q9BQB4 213 24031 9.43 0 Extracellular matrix Craniodiaphyseal dysplasia autosomal dominant;Sclerosteosis 1;Van Buchem disease PE1 17 +NX_Q9BQB6 163 18235 9.53 4 Endoplasmic reticulum membrane;Endoplasmic reticulum Combined deficiency of vitamin K-dependent clotting factors 2;Coumarin resistance PE1 16 +NX_Q9BQC3 489 52083 5.36 0 Nucleus NA PE1 1 +NX_Q9BQC6 102 12266 11.45 0 Mitochondrion NA PE1 13 +NX_Q9BQD1 86 9856 8.66 0 NA NA PE5 5 +NX_Q9BQD3 176 19668 4.79 0 Cytosol;Lysosome membrane;Centrosome;Nucleolus NA PE1 19 +NX_Q9BQD7 235 25130 9.45 1 Cytosol;Membrane NA PE1 16 +NX_Q9BQE3 449 49895 4.96 0 Cytoplasm;Cytoskeleton NA PE1 12 +NX_Q9BQE4 189 21163 9.72 1 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum NA PE1 15 +NX_Q9BQE5 337 37092 6.28 0 Cytoplasm NA PE1 22 +NX_Q9BQE6 289 31565 4.52 0 Cytosol;Nucleoplasm NA PE1 11 +NX_Q9BQE9 202 22195 4.67 0 Nucleoplasm NA PE1 7 +NX_Q9BQF6 1050 119658 6.19 0 Cytosol;Nucleoplasm NA PE1 3 +NX_Q9BQG0 1328 148855 9.34 0 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus NA PE1 17 +NX_Q9BQG1 590 63304 6.16 1 Secretory vesicle membrane;Cell membrane NA PE1 19 +NX_Q9BQG2 462 52076 6.38 0 Nucleus;Peroxisome NA PE1 5 +NX_Q9BQI0 150 17068 6.63 0 Cytoskeleton;Ruffle membrane NA PE1 9 +NX_Q9BQI3 630 71106 5.68 0 Cytosol;Cytoplasm;Nucleus NA PE1 7 +NX_Q9BQI4 270 30731 8.95 0 Cytosol;Nucleus;Endoplasmic reticulum;Secreted NA PE1 10 +NX_Q9BQI5 828 89109 8.39 0 Mitochondrion;Cytoplasm;Clathrin-coated pit NA PE1 1 +NX_Q9BQI6 1058 121050 8.7 0 Cytoplasm;Nucleus;Centrosome NA PE1 5 +NX_Q9BQI7 771 84660 5.04 1 Cleavage furrow;Ruffle membrane;Cell membrane NA PE1 5 +NX_Q9BQI9 281 31331 8.75 0 Cytosol;Nucleus NA PE1 12 +NX_Q9BQJ4 181 19998 6.26 4 Adherens junction;Nucleus membrane;Cell membrane;Membrane NA PE1 X +NX_Q9BQK8 851 93614 5.35 0 Cytosol;Nucleus NA PE1 20 +NX_Q9BQL6 677 77437 5.91 0 Cytoskeleton;Focal adhesion;Ruffle membrane Kindler syndrome PE1 20 +NX_Q9BQM9 153 17214 11.47 0 NA NA PE1 20 +NX_Q9BQN1 747 81078 8.28 0 NA NA PE1 20 +NX_Q9BQP7 344 39421 7.58 0 Mitochondrion Mitochondrial DNA depletion syndrome 11 PE1 20 +NX_Q9BQP9 254 28436 6.17 0 Secreted NA PE1 20 +NX_Q9BQQ3 440 46482 4.42 0 cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus NA PE1 3 +NX_Q9BQQ7 232 27031 8.97 1 Mitochondrion;Membrane NA PE1 3 +NX_Q9BQR3 290 31940 8.47 0 Secreted NA PE1 16 +NX_Q9BQS2 421 47375 7.12 1 Golgi apparatus;Cell membrane NA PE1 10 +NX_Q9BQS6 159 17486 9.16 0 Cytoplasm;Nucleus NA PE1 17 +NX_Q9BQS7 1158 130449 5.61 1 Membrane NA PE1 X +NX_Q9BQS8 1478 166983 4.86 0 Cytoplasmic vesicle;Endosome;Autophagosome;Lysosome Cataract 18 PE1 3 +NX_Q9BQT8 299 33303 9.53 6 Mitochondrion inner membrane NA PE1 14 +NX_Q9BQT9 956 106098 5.24 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane NA PE1 12 +NX_Q9BQW3 602 64473 8.9 0 Nucleus NA PE2 20 +NX_Q9BQY4 288 31692 4.53 0 Nucleus NA PE1 X +NX_Q9BQY6 131 14626 8.64 0 Secreted NA PE2 20 +NX_Q9BQY9 259 27671 4.45 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 20 +NX_Q9BR01 284 33085 5.42 0 Cytoplasm NA PE1 22 +NX_Q9BR09 285 31690 7.76 0 Cytoplasmic vesicle;Cytoplasm NA PE2 20 +NX_Q9BR10 227 23834 8.59 1 Golgi apparatus;Membrane NA PE1 20 +NX_Q9BR11 485 55071 7.05 0 Cytosol;Cell membrane NA PE1 20 +NX_Q9BR26 566 61579 8.88 6 Membrane NA PE2 20 +NX_Q9BR39 696 74222 8.82 1 Endoplasmic reticulum membrane;Cell membrane;Sarcoplasmic reticulum membrane Cardiomyopathy, familial hypertrophic 17 PE1 20 +NX_Q9BR46 151 17183 8.93 0 NA NA PE4 20 +NX_Q9BR61 282 31151 5 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 1 +NX_Q9BR76 489 54235 5.6 0 Cytosol;Cytoskeleton;Stress fiber;Cell membrane NA PE1 11 +NX_Q9BR77 488 57486 8.91 0 Nucleus membrane NA PE1 12 +NX_Q9BR84 538 62318 8.9 0 Nucleoplasm;Cytosol;Nucleus NA PE1 19 +NX_Q9BRA0 125 13514 5.37 0 Cytoplasm;Nucleus NA PE1 17 +NX_Q9BRA2 123 13941 5.4 0 Cytoplasm NA PE1 17 +NX_Q9BRB3 760 84082 8.37 5 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus;Membrane NA PE1 16 +NX_Q9BRC7 762 87585 5.08 0 Nucleus membrane;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleus;Cell membrane;Membrane NA PE1 2 +NX_Q9BRD0 619 70521 9.86 0 Nucleus NA PE1 11 +NX_Q9BRF8 314 35548 5.79 0 Cytosol;Cytoplasm;Cell membrane NA PE1 16 +NX_Q9BRG1 176 20748 5.97 0 Nucleoplasm;Endosome membrane;Centrosome;Cytoplasm NA PE1 17 +NX_Q9BRG2 576 63093 7.03 0 Nucleoplasm;Cytoskeleton NA PE1 19 +NX_Q9BRH9 671 75763 9.36 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q9BRI3 323 35178 5.7 5 Cytoplasmic vesicle;Vacuole membrane;Lysosome membrane Zinc deficiency, transient neonatal PE1 1 +NX_Q9BRJ2 306 35351 9.14 0 Mitochondrion NA PE1 17 +NX_Q9BRJ6 194 22083 9.65 0 Nucleolus;Nucleus NA PE1 7 +NX_Q9BRJ7 211 23338 9.07 0 Cytosol;Nucleus;Cell membrane NA PE1 16 +NX_Q9BRJ9 268 28501 9.26 0 Nucleolus;Nucleus NA PE2 15 +NX_Q9BRK0 252 28261 9.54 2 Membrane Spastic paraplegia 72 PE1 5 +NX_Q9BRK3 442 49132 6.75 1 Nucleolus;Membrane NA PE1 1 +NX_Q9BRK4 669 72759 6.13 0 Cytosol;Cytoplasm;Centrosome;Cell membrane NA PE1 10 +NX_Q9BRK5 362 41807 4.76 0 Cytoplasm;Bleb;Golgi apparatus;Cell membrane;Golgi apparatus lumen NA PE1 1 +NX_Q9BRL6 282 32288 11.72 0 Nucleus NA PE1 11 +NX_Q9BRL7 303 34269 5.91 4 Endoplasmic reticulum membrane;Golgi apparatus NA PE1 3 +NX_Q9BRN9 247 27118 8.43 2 Cytosol;Nucleoplasm;Membrane NA PE1 15 +NX_Q9BRP0 275 30438 9.02 0 Cytosol;Nucleoplasm;Nucleus Corneal dystrophy, posterior polymorphous, 1 PE1 20 +NX_Q9BRP1 358 39417 4.71 0 Mitochondrion NA PE1 19 +NX_Q9BRP4 392 42190 5.92 0 Cytosol;Nucleus NA PE1 11 +NX_Q9BRP7 624 70416 6.29 0 Cytosol;Nucleus NA PE1 11 +NX_Q9BRP8 204 22656 9.45 0 Nucleolus;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Cell junction NA PE1 12 +NX_Q9BRP9 147 15625 9.02 0 NA NA PE5 11 +NX_Q9BRQ0 406 41244 6.89 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q9BRQ3 303 32580 4.99 0 Nucleoplasm NA PE1 11 +NX_Q9BRQ4 267 30859 6.39 0 Cytoplasm;Centrosome;Cilium axoneme NA PE1 11 +NX_Q9BRQ5 295 31499 7.21 4 Nucleoplasm;Cytosol;Membrane NA PE1 16 +NX_Q9BRQ6 235 26458 9.01 0 Mitochondrion inner membrane;Cytoplasm;Mitochondrion;Nucleus NA PE1 3 +NX_Q9BRQ8 373 40527 9.16 1 Cytosol;Cytoplasm;Mitochondrion outer membrane;Membrane NA PE1 10 +NX_Q9BRR0 538 60641 5.98 0 Cytoplasm;Nucleus NA PE1 6 +NX_Q9BRR3 403 46588 7.27 3 Mitochondrion;Membrane NA PE1 9 +NX_Q9BRR6 497 54089 5.77 0 Cytoplasm;Nucleus;Centrosome;Secreted NA PE1 15 +NX_Q9BRR8 931 103345 6.59 0 Nucleoplasm;Cell junction;Cell membrane NA PE1 19 +NX_Q9BRR9 750 83260 8.65 0 NA NA PE1 12 +NX_Q9BRS2 568 65583 5.84 0 Cytosol;Nucleus speckle;Nucleolus NA PE1 6 +NX_Q9BRS8 491 54737 8.4 0 Cytoplasm;Cytoskeleton;Nucleus NA PE1 15 +NX_Q9BRT2 126 14875 6.84 0 Mitochondrion nucleoid;Mitochondrion matrix;Nucleus;Mitochondrion intermembrane space;Mitochondrion;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 7 PE1 6 +NX_Q9BRT3 115 12403 4.4 0 Cytosol;Cell membrane NA PE1 17 +NX_Q9BRT6 129 15225 10.38 0 Nucleolus;Chromosome NA PE1 12 +NX_Q9BRT8 395 44068 4.76 0 NA NA PE1 9 +NX_Q9BRT9 223 26047 4.94 0 Nucleoplasm;Cytoplasm;Nucleus;Centrosome NA PE1 8 +NX_Q9BRU2 100 12324 8.46 0 Nucleus NA PE2 X +NX_Q9BRU9 249 28402 10.08 0 Nucleolus NA PE1 8 +NX_Q9BRV3 221 25030 8.8 7 Golgi apparatus membrane;Cell membrane NA PE1 1 +NX_Q9BRV8 207 23721 5.09 0 Cytoplasmic vesicle;Cytoplasm;Focal adhesion NA PE1 1 +NX_Q9BRX2 385 43359 5.93 0 Cytoplasm;Nucleolus;Nucleus NA PE1 5 +NX_Q9BRX5 216 24535 5.21 0 Nucleoplasm;Nucleus NA PE1 16 +NX_Q9BRX8 229 25764 8.92 0 Cytoplasm;Secreted NA PE1 10 +NX_Q9BRX9 315 34343 5.36 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Centrosome NA PE1 19 +NX_Q9BRY0 314 33601 6.39 8 Cytoplasmic vesicle;Membrane NA PE1 19 +NX_Q9BRZ2 755 81488 8.02 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 7 +NX_Q9BS16 269 31655 4.83 0 Kinetochore;Nucleus;Centromere NA PE1 5 +NX_Q9BS18 74 8521 4.04 0 Mitochondrion;Cytosol;Nucleus NA PE1 3 +NX_Q9BS26 406 46971 5.09 0 Endoplasmic reticulum lumen NA PE1 9 +NX_Q9BS31 505 57683 9.03 0 Nucleus NA PE1 19 +NX_Q9BS34 389 44603 8.8 0 Cytosol;Nucleus NA PE1 1 +NX_Q9BS40 222 25750 5.54 0 Nucleoplasm;Cytosol;Cytoplasm NA PE1 3 +NX_Q9BS86 351 40142 9.42 0 Acrosome membrane;Secreted NA PE1 7 +NX_Q9BS91 424 48500 8.55 10 Golgi apparatus;Membrane NA PE1 3 +NX_Q9BS92 247 28313 9.32 0 NA NA PE1 9 +NX_Q9BSA4 534 58772 5.48 5 Cell membrane NA PE1 17 +NX_Q9BSA9 504 55615 7.61 12 Endosome membrane;Lysosome membrane;Nucleus;Nucleus membrane Parkinson disease PE1 4 +NX_Q9BSB4 218 25003 5.81 0 Cytoplasm;Preautophagosomal structure NA PE1 12 +NX_Q9BSC4 688 80302 8.64 0 Nucleolus NA PE1 2 +NX_Q9BSD3 238 26709 9.69 0 Nucleus;Chromosome NA PE1 12 +NX_Q9BSD7 190 20713 9.61 0 Cytosol NA PE1 1 +NX_Q9BSE2 394 43520 4.87 5 Lysosome;Nucleolus;trans-Golgi network;Membrane NA PE1 1 +NX_Q9BSE4 406 45147 4.93 1 Nucleolus;Membrane NA PE1 7 +NX_Q9BSE5 352 37660 7.54 0 Mitochondrion NA PE1 1 +NX_Q9BSF0 95 10970 4.84 0 Cell membrane NA PE1 2 +NX_Q9BSF4 260 29233 8.29 1 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane NA PE1 19 +NX_Q9BSF8 475 53779 7.65 0 Cytoplasm;Nucleolus;Nucleus NA PE1 11 +NX_Q9BSG0 188 21042 5.23 0 Secreted NA PE1 2 +NX_Q9BSG1 426 48863 8.91 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA PE1 2 +NX_Q9BSG5 229 24615 8.59 0 Interphotoreceptor matrix;Endoplasmic reticulum;Cell membrane NA PE1 19 +NX_Q9BSH3 213 24202 6.59 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q9BSH4 297 32477 8.37 0 Mitochondrion Leigh syndrome PE1 17 +NX_Q9BSH5 251 28000 6.21 0 Nucleolus NA PE1 9 +NX_Q9BSI4 451 50023 8.2 0 Nucleus;Nucleus matrix;Telomere Dyskeratosis congenita, autosomal dominant, 3;Dyskeratosis congenita, autosomal dominant, 5 PE1 14 +NX_Q9BSJ1 452 52285 5.72 0 Cytoplasmic vesicle;Nucleolus NA PE2 11 +NX_Q9BSJ2 902 102534 6.38 0 Nucleoplasm;Centrosome NA PE1 10 +NX_Q9BSJ5 609 67315 9.3 1 Nucleoplasm;Cytoplasmic vesicle;Membrane NA PE1 17 +NX_Q9BSJ6 248 27480 10.22 0 Nucleolus;Nucleus NA PE1 17 +NX_Q9BSJ8 1104 122856 5.57 2 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum NA PE1 12 +NX_Q9BSK0 173 18914 9.69 4 Cytoskeleton;Nucleus;Cell membrane NA PE1 10 +NX_Q9BSK1 485 54939 9.39 0 Nucleolus;Nucleus NA PE1 19 +NX_Q9BSK2 321 35375 9.65 6 Mitochondrion inner membrane NA PE1 1 +NX_Q9BSK4 669 73639 5.71 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA PE1 19 +NX_Q9BSL1 405 45338 4.82 0 Cytosol;Cytoplasm;Cell membrane;Golgi apparatus NA PE1 9 +NX_Q9BSM1 259 30346 9.14 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q9BSN7 226 24540 8.1 4 Adherens junction;Cell membrane NA PE2 16 +NX_Q9BSQ5 444 48837 5.32 0 Mitochondrion;Cytoplasm Cerebral cavernous malformations 2 PE1 7 +NX_Q9BSR8 244 27083 4.5 5 Cytoplasmic vesicle;cis-Golgi network membrane;Golgi apparatus;Endoplasmic reticulum;Cell membrane NA PE1 2 +NX_Q9BST9 563 62667 7.18 0 Nucleoplasm;Mitochondrion NA PE1 2 +NX_Q9BSU1 422 47524 7.64 0 Cytosol;Nucleus speckle NA PE1 16 +NX_Q9BSU3 229 25979 5.05 0 Cytoplasm;Nucleus NA PE1 4 +NX_Q9BSV6 310 33652 8.53 0 Nucleolus;Nucleus Pontocerebellar hypoplasia 2C PE1 19 +NX_Q9BSW2 395 45592 4.95 0 Cytoplasm NA PE1 12 +NX_Q9BSW7 474 53849 7.23 0 Cytosol;Nucleus;Membrane NA PE1 16 +NX_Q9BSY4 110 12395 6.28 0 Mitochondrion;Mitochondrion intermembrane space NA PE1 2 +NX_Q9BSY9 194 21444 4.86 0 Cytoplasmic vesicle;Cytoplasm NA PE1 1 +NX_Q9BT04 418 45679 5.9 0 Cytosol;Cytoplasm;Cytoskeleton;Cilium basal body NA PE1 19 +NX_Q9BT09 278 30748 5.36 0 Endoplasmic reticulum Epileptic encephalopathy, early infantile, 60 PE1 6 +NX_Q9BT17 334 37237 9.54 0 Mitochondrion;Mitochondrion inner membrane NA PE1 10 +NX_Q9BT22 464 52518 6.8 1 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1K PE1 16 +NX_Q9BT23 127 14070 9.23 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 17 +NX_Q9BT25 410 44857 6.6 0 Cytoplasm;Spindle;Centrosome;Spindle pole NA PE1 19 +NX_Q9BT30 221 24516 6.61 0 Mitochondrion matrix NA PE1 19 +NX_Q9BT40 448 51090 6.07 0 Endoplasmic reticulum Muscular dystrophy, congenital, with cataracts and intellectual disability PE1 17 +NX_Q9BT43 218 25334 4.49 0 Nucleus NA PE1 1 +NX_Q9BT49 309 34414 9.54 0 Cytoplasmic vesicle;Nucleus;Chromosome NA PE1 22 +NX_Q9BT56 116 13302 9.73 0 Extracellular space;Secretory vesicle;Secreted NA PE1 12 +NX_Q9BT67 221 24899 4.55 3 Endosome membrane;Dendrite;Secreted;Golgi apparatus membrane;Synaptosome NA PE1 5 +NX_Q9BT73 122 13104 7.72 0 Cytoplasm NA PE1 7 +NX_Q9BT76 320 33882 6.33 1 Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane NA PE1 7 +NX_Q9BT78 406 46269 5.57 0 Cytoplasm;Synaptic vesicle;Nucleus;Nucleus speckle NA PE1 4 +NX_Q9BT81 388 42197 6.2 0 Cytoplasm;Nucleus;Golgi apparatus;Nucleus speckle NA PE1 8 +NX_Q9BT88 431 48297 9.15 1 Synaptic vesicle membrane;Synapse;Membrane NA PE1 1 +NX_Q9BT92 498 61072 6.2 0 Cytosol;Cytoplasm;Cell membrane;Desmosome;Mitochondrion;Cytoskeleton;Centrosome NA PE1 12 +NX_Q9BTA0 163 18414 5.28 0 Cytoskeleton NA PE1 1 +NX_Q9BTA9 647 70724 9.49 0 Nucleoplasm;Nucleus speckle;Nucleus DeSanto-Shinawi syndrome PE1 10 +NX_Q9BTC0 2240 243873 8.09 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm;Nucleus;Spindle NA PE1 20 +NX_Q9BTC8 594 67504 8.8 0 Cytoplasmic vesicle;Nucleus NA PE1 2 +NX_Q9BTD1 123 13317 9.49 0 NA NA PE5 11 +NX_Q9BTD3 319 35814 9.39 7 Cytosol;Membrane NA PE2 14 +NX_Q9BTD8 480 50414 9.65 0 Cytosol;Cytoplasm;Nucleus NA PE1 19 +NX_Q9BTE0 207 23361 4.67 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 17 +NX_Q9BTE1 182 20127 8.32 0 Kinetochore;Nucleoplasm;Cytoskeleton;Nucleus membrane NA PE1 16 +NX_Q9BTE3 642 72980 5.56 0 Nucleoplasm;Nucleus NA PE1 10 +NX_Q9BTE6 412 45480 6 0 Cytosol;Cytoplasm;Nucleus membrane NA PE1 17 +NX_Q9BTE7 237 27508 5.44 0 Nucleolus;Nucleus NA PE1 11 +NX_Q9BTF0 503 56433 7.92 0 Nucleoplasm NA PE1 2 +NX_Q9BTK2 45 4916 11.19 0 NA NA PE5 X +NX_Q9BTK6 254 27716 4.4 0 Nucleus NA PE1 16 +NX_Q9BTL3 118 14381 8.89 0 Nucleoplasm;Nucleus NA PE1 15 +NX_Q9BTL4 223 24196 6.46 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 19 +NX_Q9BTM1 129 14019 10.9 0 Nucleus;Chromosome NA PE1 12 +NX_Q9BTM9 101 11380 4.54 0 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm NA PE1 9 +NX_Q9BTN0 628 66260 6.88 1 Synapse;Cell membrane;Axon;Dendrite;Postsynaptic cell membrane;Presynaptic cell membrane NA PE1 19 +NX_Q9BTP6 218 25122 6.57 0 Mitochondrion;Cytosol;Nucleus NA PE1 3 +NX_Q9BTP7 215 23897 9.28 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_Q9BTT0 268 30692 3.77 0 Cytoplasm;Nucleus NA PE1 1 +NX_Q9BTT4 135 15688 5.82 0 Nucleoplasm;Nucleus NA PE1 5 +NX_Q9BTT6 524 59242 4.94 0 Cytosol;Cytoplasm;Membrane NA PE1 6 +NX_Q9BTU6 479 54022 8.51 0 Synaptosome;Endosome;trans-Golgi network membrane;Cell membrane;Cytoplasmic vesicle;Dendrite;Presynaptic cell membrane;Membrane;Mitochondrion;Membrane raft NA PE1 10 +NX_Q9BTV4 400 44876 7.86 4 Nucleus inner membrane;Endoplasmic reticulum;Golgi apparatus Arrhythmogenic right ventricular dysplasia, familial, 5;Emery-Dreifuss muscular dystrophy 7, autosomal dominant PE1 3 +NX_Q9BTV5 496 55820 6.54 0 Cytoplasm;Nucleus;Centrosome;Cleavage furrow NA PE1 19 +NX_Q9BTV6 452 50575 6.11 0 Nucleus NA PE1 9 +NX_Q9BTV7 478 52235 9.84 0 Nucleus;Cell junction NA PE1 20 +NX_Q9BTW9 1192 132600 5.8 0 Cytoplasm;Lateral cell membrane;Centrosome;Tight junction;Adherens junction Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum PE1 17 +NX_Q9BTX1 674 76305 9.22 6 Cytoskeleton;Cell membrane;Nucleus membrane;Nuclear pore complex NA PE1 1 +NX_Q9BTX3 173 19642 9.33 3 Endoplasmic reticulum membrane NA PE1 16 +NX_Q9BTX7 342 38515 6.03 0 Cytosol;Golgi apparatus NA PE1 20 +NX_Q9BTY2 467 54067 5.84 0 Secreted NA PE1 6 +NX_Q9BTY7 390 42129 4.73 0 Nucleoplasm;Cytosol;Nucleus NA PE1 8 +NX_Q9BTZ2 278 29537 8.81 0 Nucleus;Peroxisome NA PE1 14 +NX_Q9BU02 230 25566 4.75 0 Cytoplasm;Nucleolus;Nucleus NA PE1 14 +NX_Q9BU19 519 56968 7.54 0 Nucleolus;Nucleus NA PE1 1 +NX_Q9BU20 258 28498 7.06 0 Nucleoplasm;Cilium basal body NA PE1 1 +NX_Q9BU23 707 79698 10.1 11 Endoplasmic reticulum membrane;Centrosome;Endoplasmic reticulum NA PE1 22 +NX_Q9BU40 450 51168 8.52 0 Secreted Megalocornea 1, X-linked PE1 X +NX_Q9BU61 184 20350 8.48 0 Nucleus;Mitochondrion inner membrane Mitochondrial complex I deficiency PE1 3 +NX_Q9BU64 300 33786 7.63 0 Kinetochore;Centromere;Nucleus NA PE1 2 +NX_Q9BU68 103 11705 9.49 0 Cytosol NA PE1 17 +NX_Q9BU70 441 48587 6.74 0 Nucleoplasm NA PE1 9 +NX_Q9BU76 263 29412 10.03 0 Cytosol;Nucleus speckle;Cell membrane NA PE1 1 +NX_Q9BU79 118 13391 8.4 3 Membrane NA PE1 7 +NX_Q9BU89 302 32904 4.74 0 Cytosol;Nucleus NA PE1 19 +NX_Q9BUA3 381 41037 4.92 0 Nucleus speckle NA PE1 11 +NX_Q9BUA6 226 25308 5.56 0 Mitochondrion NA PE1 7 +NX_Q9BUB4 502 55392 9.2 0 Nucleoplasm NA PE1 16 +NX_Q9BUB5 465 51342 6.26 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q9BUB7 260 28969 9.02 2 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane Mitochondrial complex V deficiency, nuclear type 2 PE1 8 +NX_Q9BUD6 331 35846 5.35 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 4 +NX_Q9BUE0 208 23663 6.06 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q9BUE6 129 14179 9.19 0 Mitochondrion Multiple mitochondrial dysfunctions syndrome 5 PE1 9 +NX_Q9BUF5 446 49857 4.77 0 Cytoskeleton Facial palsy, congenital, with ptosis and velopharyngeal dysfunction PE1 18 +NX_Q9BUF7 120 12854 9.96 1 Apical cell membrane;Cell junction;Tight junction NA PE1 19 +NX_Q9BUG6 496 55865 8.7 0 Nucleus NA PE1 19 +NX_Q9BUH6 204 21640 5.39 0 Nucleus NA PE1 9 +NX_Q9BUH8 593 64803 5.4 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Membrane NA PE1 14 +NX_Q9BUI4 534 60612 6.88 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q9BUJ0 271 29765 8.74 1 Cytoplasmic vesicle;Cytoplasm;Endoplasmic reticulum;Membrane NA PE1 3 +NX_Q9BUJ2 856 95739 6.49 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q9BUK0 85 10095 9.1 0 Cell junction;Mitochondrion intermembrane space NA PE1 8 +NX_Q9BUK6 570 61835 5.7 0 Cytosol;Cytoplasm;Nucleus;Nucleus membrane;Mitochondrion outer membrane Myopathy, mitochondrial, and ataxia PE1 1 +NX_Q9BUL5 403 43818 5.62 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 17 +NX_Q9BUL8 212 24702 7.8 0 Cytoplasm;Golgi apparatus membrane;Cell membrane Cerebral cavernous malformations 3 PE1 3 +NX_Q9BUL9 199 20632 9.66 0 Nucleoplasm;Nucleus;Microtubule organizing center NA PE1 15 +NX_Q9BUM1 346 38735 8.47 9 Endoplasmic reticulum membrane;Endoplasmic reticulum Neutropenia, severe congenital 4, autosomal recessive;Dursun syndrome PE1 17 +NX_Q9BUN1 341 36769 8.96 0 Secreted NA PE1 1 +NX_Q9BUN5 200 22037 5.23 0 Centrosome Bardet-Biedl syndrome PE1 1 +NX_Q9BUN8 251 28801 9.54 4 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 8 +NX_Q9BUP0 239 26928 5.34 0 Nucleolus;Mitochondrion inner membrane;Golgi apparatus NA PE1 2 +NX_Q9BUP3 242 27049 8.58 0 Cytosol;Cytoplasm;Nucleus envelope NA PE1 11 +NX_Q9BUQ8 820 95583 9.58 0 Nucleolus;Nucleus NA PE1 12 +NX_Q9BUR4 548 59309 4.46 0 Cajal body;Nucleoplasm;Telomere;Cytosol;Nucleus;Chromosome Dyskeratosis congenita, autosomal recessive, 3 PE1 17 +NX_Q9BUR5 198 22285 9.18 1 Endoplasmic reticulum membrane;Secreted;Cytosol;Golgi apparatus membrane;Mitochondrion;Mitochondrion inner membrane NA PE1 X +NX_Q9BUT1 245 26724 7.56 0 Cytosol;Cytoplasm NA PE1 4 +NX_Q9BUT9 160 17828 9.5 0 Stress granule;Cytoplasm;Nucleus NA PE1 16 +NX_Q9BUU2 404 44486 4.9 0 Nucleolus;Nucleus NA PE1 16 +NX_Q9BUV0 290 33613 11.76 0 Nucleoplasm NA PE1 1 +NX_Q9BUV8 137 15487 5.06 0 Cytosol NA PE1 20 +NX_Q9BUW7 83 9054 4.13 0 Cytoskeleton NA PE1 9 +NX_Q9BUX1 222 24418 5.05 0 Cytosol;trans-Golgi network NA PE1 15 +NX_Q9BUY5 554 63106 7.96 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q9BUY7 163 19225 8.59 0 Cytosol;Cell junction NA PE1 14 +NX_Q9BUZ4 470 53543 8.54 0 Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Cytoskeleton;Tight junction NA PE1 17 +NX_Q9BV10 488 54655 9.63 12 Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1G PE1 22 +NX_Q9BV19 199 21877 5.54 0 NA NA PE1 1 +NX_Q9BV20 369 39150 5.89 0 Nucleolus;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Cell projection NA PE1 19 +NX_Q9BV23 337 38331 8.67 1 Mitochondrion;Nucleoplasm;Cytoplasmic vesicle;Membrane NA PE1 3 +NX_Q9BV29 185 20656 4.42 0 Cytoplasmic vesicle;Nucleus speckle NA PE1 15 +NX_Q9BV35 468 52378 6.85 6 Mitochondrion;Mitochondrion inner membrane NA PE1 19 +NX_Q9BV36 600 65949 5.73 0 Cytoplasm Griscelli syndrome 3 PE1 2 +NX_Q9BV38 432 47405 6.21 0 Nucleoplasm;Cytoplasm;Nucleolus NA PE1 19 +NX_Q9BV40 100 11438 6.73 1 Late endosome membrane;Lysosome membrane;Early endosome membrane;Cell membrane NA PE1 2 +NX_Q9BV44 507 57003 5.97 0 Cytosol;Nucleolus NA PE1 3 +NX_Q9BV47 211 23946 9.66 0 Cytoplasm;Nucleus;Golgi apparatus NA PE1 8 +NX_Q9BV57 179 21498 5.43 0 Nucleoplasm;Cytoplasm;Nucleus;Golgi apparatus;Cell membrane NA PE1 2 +NX_Q9BV68 326 35585 5.44 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 19 +NX_Q9BV73 2442 281137 5 0 Centriole;Perinuclear region;Centrosome;Cilium basal body NA PE1 20 +NX_Q9BV79 373 40462 8.99 0 Mitochondrion;Cytoplasm;Nucleus Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities PE1 1 +NX_Q9BV81 110 12017 10.08 2 Nucleus;Centrosome;Membrane NA PE1 17 +NX_Q9BV86 223 25387 5.32 0 Nucleoplasm;Cytosol;Nucleus NA PE1 9 +NX_Q9BV87 410 45456 5.47 1 Membrane NA PE2 2 +NX_Q9BV90 132 15270 7.75 0 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus NA PE1 16 +NX_Q9BV94 578 64753 5.16 0 Endoplasmic reticulum lumen NA PE1 20 +NX_Q9BV97 191 20610 10.78 0 NA NA PE1 16 +NX_Q9BV99 259 28014 4.69 0 Nucleoplasm NA PE1 7 +NX_Q9BVA0 655 72334 7.51 0 Cytosol;Cytoplasm;Cell membrane;Spindle pole;Centrosome;Cytoskeleton;Spindle Lissencephaly 6, with microcephaly PE1 16 +NX_Q9BVA1 445 49953 4.78 0 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 7;Fetal akinesia deformation sequence PE1 6 +NX_Q9BVA6 458 51778 7.31 1 Endoplasmic reticulum membrane;Nucleus NA PE1 12 +NX_Q9BVC3 393 44825 5.05 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q9BVC4 326 35876 5.5 0 Nucleoplasm;Cytoplasm;Cell junction;Golgi apparatus NA PE1 16 +NX_Q9BVC5 232 25858 9.76 0 Mitochondrion;Cytoplasm;Nucleoplasm NA PE1 2 +NX_Q9BVC6 243 26210 10.48 3 Endoplasmic reticulum membrane;Cytosol;Sarcoplasmic reticulum membrane;Nucleus membrane;Nucleus outer membrane NA PE1 11 +NX_Q9BVG3 475 54268 6.17 0 Cytoplasmic vesicle;Cytoplasm;Focal adhesion NA PE1 1 +NX_Q9BVG4 233 26057 4.72 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 X +NX_Q9BVG8 833 92775 7.62 0 Adherens junction;Cytoplasmic vesicle membrane;Centrosome NA PE1 16 +NX_Q9BVG9 487 56253 5.86 7 Endoplasmic reticulum membrane NA PE1 11 +NX_Q9BVH7 336 38443 9.56 1 Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 1 +NX_Q9BVI0 1012 115386 6.55 0 Nucleoplasm;Cytosol;Nucleus;Nucleus membrane NA PE1 20 +NX_Q9BVI4 516 58468 7.08 3 Nucleolus;Nucleus;Nucleus membrane NA PE1 12 +NX_Q9BVJ6 771 87978 7.67 0 Nucleolus NA PE1 X +NX_Q9BVJ7 150 16588 8.44 0 Cytosol;Nucleoplasm;Nucleus NA PE1 1 +NX_Q9BVK2 526 60088 9.28 11 Endoplasmic reticulum membrane;Nucleoplasm Polycystic liver disease 3 with or without kidney cysts;Congenital disorder of glycosylation 1H PE1 11 +NX_Q9BVK6 235 27277 7.81 1 Endoplasmic reticulum membrane;cis-Golgi network membrane;trans-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 5 +NX_Q9BVK8 224 25261 7.61 6 Endoplasmic reticulum membrane;Cytosol;Cytoskeleton;Golgi apparatus NA PE1 19 +NX_Q9BVL2 599 60897 9.36 0 Mitochondrion;Cytosol;Nuclear pore complex;Cell membrane;Nucleus membrane NA PE1 13 +NX_Q9BVL4 669 73489 5.69 0 Mitochondrion NA PE1 22 +NX_Q9BVM2 203 23240 9.11 0 Nucleus speckle NA PE1 10 +NX_Q9BVM4 153 17329 6.37 0 NA NA PE1 13 +NX_Q9BVN2 902 96444 5.9 0 Golgi apparatus;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Early endosome;Postsynaptic density;Cytoskeleton NA PE1 1 +NX_Q9BVP2 549 61993 9.23 0 Nucleolus;Nucleus NA PE1 3 +NX_Q9BVQ7 753 80710 8.42 0 Cytoplasm;Nucleolus;Nucleus NA PE1 15 +NX_Q9BVR0 1158 128943 6.45 0 NA NA PE5 15 +NX_Q9BVS4 552 63283 5.66 0 Cytosol;Cytoplasm;Cell membrane NA PE1 5 +NX_Q9BVS5 477 52965 6.17 0 Mitochondrion;Cytosol NA PE1 2 +NX_Q9BVT8 246 26261 5.44 3 Nucleolus;Cytosol;Cytoplasm;Nucleoplasm;Postsynaptic cell membrane;Membrane;Nucleus;Recycling endosome;Centrosome NA PE1 7 +NX_Q9BVV2 318 36526 8.82 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 20 +NX_Q9BVV6 1533 169307 5.37 0 Cytosol;Centriole;Nucleoplasm;Photoreceptor inner segment;Centrosome;Cilium basal body Short-rib thoracic dysplasia 14 with polydactyly;Joubert syndrome 23 PE1 14 +NX_Q9BVV7 248 28202 9.73 1 Nucleoplasm;Mitochondrion membrane NA PE1 18 +NX_Q9BVV8 132 14249 9.23 1 Nucleus speckle;Golgi apparatus;Membrane NA PE1 19 +NX_Q9BVW5 301 34555 4.73 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 15 +NX_Q9BVW6 85 9520 5.19 1 Membrane NA PE1 13 +NX_Q9BVX2 250 27875 6.3 2 Endoplasmic reticulum membrane;Membrane NA PE1 12 +NX_Q9BW04 601 63964 8.78 0 Cytosol;Cytoplasm;Cell membrane NA PE1 1 +NX_Q9BW11 206 23477 9.32 0 Nucleolus;Nucleus NA PE1 5 +NX_Q9BW19 673 73748 9.15 0 Spindle;Nucleus;Centrosome;Early endosome NA PE1 6 +NX_Q9BW27 656 75019 5.36 0 Kinetochore;Nucleus membrane;Cytosol;Cytoplasm;Nuclear pore complex;Nucleus;Spindle NA PE1 17 +NX_Q9BW30 176 18985 9.19 0 Cytoskeleton;Nucleolus NA PE1 16 +NX_Q9BW60 279 32663 9.62 7 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 1 +NX_Q9BW61 102 11835 8.73 0 Nucleolus;Nucleus NA PE1 19 +NX_Q9BW62 490 55392 6.35 0 Cytoskeleton;Cytosol;Cytoplasm;Nucleoplasm;Spindle;Spindle pole NA PE1 13 +NX_Q9BW66 212 24324 5.87 0 Nucleus NA PE1 14 +NX_Q9BW71 556 61957 8.71 0 Nucleus NA PE1 16 +NX_Q9BW72 106 11529 10.21 2 Mitochondrion inner membrane;Mitochondrion membrane NA PE1 5 +NX_Q9BW83 186 20480 5.28 0 Nucleoplasm;Cytoplasm;Mitochondrion;Flagellum;Cilium Bardet-Biedl syndrome 19 PE1 22 +NX_Q9BW85 323 37086 5.75 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q9BW91 350 39125 8.26 0 Mitochondrion NA PE1 4 +NX_Q9BW92 718 81036 6.9 0 Mitochondrion matrix;Nucleoplasm;Cytoskeleton;Cytosol Combined oxidative phosphorylation deficiency 21 PE1 1 +NX_Q9BWC9 280 32032 9.47 0 Cytosol;Nucleus NA PE1 19 +NX_Q9BWD1 397 41351 6.47 0 Cytosol;Cytoplasm;Nucleus NA PE1 6 +NX_Q9BWD3 113 13188 4.94 0 NA NA PE1 X +NX_Q9BWE0 567 63575 10.05 0 Nucleus NA PE1 7 +NX_Q9BWF2 469 53294 8.75 0 Nucleolus;Cytosol;Cytoplasm;Cell membrane;Perinuclear region;Nucleus Seckel syndrome 9 PE1 3 +NX_Q9BWF3 364 40314 6.61 0 Cytoplasmic granule;Nucleolus;Nucleus;Nucleus speckle;Cytoplasm NA PE1 11 +NX_Q9BWG4 385 39388 6.3 0 Nucleus NA PE1 19 +NX_Q9BWG6 230 25949 9.03 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 1 +NX_Q9BWH2 189 20676 9.74 0 Mitochondrion NA PE1 X +NX_Q9BWH6 1393 152755 5.95 0 Cytosol;Nucleoplasm;Nucleus NA PE1 15 +NX_Q9BWJ2 59 6658 6.1 0 NA NA PE5 8 +NX_Q9BWJ5 86 10135 5.89 0 Nucleoplasm;Nucleus NA PE1 6 +NX_Q9BWK5 157 16829 5.16 0 Cytoplasm;Nucleus;Golgi apparatus NA PE1 7 +NX_Q9BWL3 253 28779 9.61 1 Membrane NA PE1 1 +NX_Q9BWM5 594 67188 8.33 0 Cytosol;Nucleus NA PE1 19 +NX_Q9BWM7 321 35503 9.26 4 Mitochondrion;Mitochondrion membrane NA PE1 10 +NX_Q9BWN1 585 64328 10.35 0 Nucleoplasm;Nucleus;Chromosome;Nucleus lamina NA PE1 16 +NX_Q9BWP8 271 28665 5.26 0 Secreted 3MC syndrome 2 PE1 2 +NX_Q9BWQ6 316 35151 5.43 5 Mitochondrion;cis-Golgi network membrane;Late endosome membrane;trans-Golgi network membrane;Golgi apparatus NA PE1 19 +NX_Q9BWQ8 316 35110 6.06 7 Cytoskeleton;Postsynaptic cell membrane;Membrane raft;Cell membrane NA PE1 12 +NX_Q9BWS9 393 44941 8.74 0 Nucleoplasm;Cytoskeleton;Lysosome;Secreted NA PE1 11 +NX_Q9BWT1 371 42573 9.57 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Immunodeficiency-centromeric instability-facial anomalies syndrome 3 PE1 2 +NX_Q9BWT3 736 82803 9.21 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q9BWT6 205 23753 8.28 0 Nucleus NA PE1 4 +NX_Q9BWT7 1032 115931 5.74 0 Cytosol;Cytoplasm;Cytoskeleton;Cytoplasmic vesicle NA PE1 22 +NX_Q9BWU0 796 88814 5.11 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cell membrane;Cytoplasm NA PE1 2 +NX_Q9BWU1 502 56802 8.66 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 6 +NX_Q9BWV1 1114 121059 6.58 1 Nucleoplasm;Cell membrane NA PE1 3 +NX_Q9BWV2 254 28740 9.53 1 Mitochondrion;Membrane NA PE1 5 +NX_Q9BWV3 514 58455 8.34 0 Nucleoplasm NA PE1 13 +NX_Q9BWV7 592 67336 9 0 Nucleolus;Nucleus membrane NA PE1 6 +NX_Q9BWW4 388 40421 6.4 0 Nucleus NA PE1 1 +NX_Q9BWW7 348 35570 9.56 0 Nucleus NA PE1 8 +NX_Q9BWW8 343 38128 8.58 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 22 +NX_Q9BWW9 433 47044 9.39 0 Cytoplasm NA PE2 22 +NX_Q9BWX1 381 43767 8.58 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 3 +NX_Q9BWX5 397 41299 9.17 0 Nucleoplasm;Cytosol;Nucleus Congenital heart defects, multiple types, 5 PE1 20 +NX_Q9BX10 602 65768 8.32 0 Cytoplasmic vesicle;Cytoplasm Jaberi-Elahi syndrome PE1 6 +NX_Q9BX26 1530 175639 9.01 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane;Chromosome NA PE1 20 +NX_Q9BX40 385 42071 9.69 0 Cytoplasmic vesicle;Nucleolus NA PE1 20 +NX_Q9BX46 236 24776 8.52 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 6 +NX_Q9BX51 225 24274 5 0 NA NA PE2 20 +NX_Q9BX59 468 50183 5.12 1 Endoplasmic reticulum membrane;Microsome membrane;Golgi apparatus membrane;Cell membrane NA PE1 12 +NX_Q9BX63 1249 140867 6.49 0 Cytoplasm;Nucleus;Nucleus membrane Fanconi anemia complementation group J;Breast cancer PE1 17 +NX_Q9BX66 1292 142513 6.4 0 Cell membrane;Focal adhesion;Nucleus;Nucleus matrix;Adherens junction;Cytoskeleton;Centrosome NA PE1 10 +NX_Q9BX67 310 35020 7.53 1 Golgi apparatus;Secreted;Cell membrane;Desmosome;Cell junction;Tight junction Hemorrhagic destruction of the brain with subependymal calcification and cataracts PE1 11 +NX_Q9BX68 163 17162 9.2 0 Mitochondrion NA PE1 9 +NX_Q9BX69 1037 116468 5.98 0 Cytosol;Focal adhesion NA PE1 5 +NX_Q9BX70 525 55931 5.63 0 Cytoplasm NA PE1 19 +NX_Q9BX73 214 22871 4.83 2 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Membrane NA PE1 8 +NX_Q9BX74 207 22327 6.09 2 Membrane NA PE1 1 +NX_Q9BX79 667 73503 9.18 9 Cytosol;Nucleus;Cell membrane Microphthalmia, syndromic, 9 PE1 15 +NX_Q9BX82 626 73009 8.88 0 Nucleus NA PE1 19 +NX_Q9BX84 2022 231708 7.86 6 Cell membrane Hypomagnesemia 1 PE1 9 +NX_Q9BX93 195 21659 5.75 0 Cytoplasmic vesicle;Secreted NA PE1 10 +NX_Q9BX95 441 49108 9.08 9 Endoplasmic reticulum membrane;Nucleus;Cell membrane NA PE1 14 +NX_Q9BX97 442 50594 9.01 1 Caveola;Perinuclear region;Cell membrane NA PE1 19 +NX_Q9BXA5 334 38698 9.14 7 Cell membrane NA PE1 3 +NX_Q9BXA6 273 30331 9.24 0 NA NA PE1 19 +NX_Q9BXA7 367 41618 7.6 0 Cytoplasm;Flagellum;Acrosome NA PE1 5 +NX_Q9BXA9 1300 135346 6.56 0 Nucleus NA PE1 18 +NX_Q9BXB1 951 104475 5.78 7 Cell membrane;Microtubule organizing center Osteoporosis PE1 11 +NX_Q9BXB4 747 83643 6.6 0 Nucleoplasm;Late endosome membrane;trans-Golgi network membrane;Golgi apparatus NA PE1 3 +NX_Q9BXB5 764 83970 8.56 0 Cytosol;Cytoskeleton;Cell membrane;Golgi apparatus NA PE1 3 +NX_Q9BXB7 569 65263 9.21 0 Golgi apparatus Spermatogenic failure 6 PE1 3 +NX_Q9BXC0 346 39295 9.14 7 Cell membrane NA PE1 12 +NX_Q9BXC1 333 38503 8.73 7 Cytoplasmic vesicle;Cell membrane NA PE2 X +NX_Q9BXC9 721 79871 5.74 0 Cytoplasm;Centriolar satellite;Cilium membrane Retinitis pigmentosa 74;Bardet-Biedl syndrome 2 PE1 16 +NX_Q9BXD5 320 35163 5.4 0 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA PE1 1 +NX_Q9BXE9 311 34713 9.83 7 Cell membrane NA PE2 16 +NX_Q9BXF3 1484 164213 6.51 0 Cytoplasmic vesicle;Nucleus NA PE1 22 +NX_Q9BXF6 653 70415 9.28 0 Recycling endosome membrane;Cytoplasm;Early endosome membrane;Microtubule organizing center;Cytoplasmic vesicle;Golgi apparatus membrane;Secretory vesicle membrane;Mitochondrion membrane NA PE1 2 +NX_Q9BXF9 490 56636 6.93 0 Acrosome outer membrane;Flagellum NA PE1 17 +NX_Q9BXG8 430 49445 7.21 0 Cytoplasm;Nucleus NA PE1 5 +NX_Q9BXH1 193 20532 9.09 0 Mitochondrion;Cytosol NA PE1 19 +NX_Q9BXI2 301 32580 9.22 6 Mitochondrion inner membrane NA PE1 5 +NX_Q9BXI3 368 41021 6.11 0 Cytoplasm NA PE1 1 +NX_Q9BXI6 508 57118 8.69 0 Microvillus;Cell membrane NA PE1 22 +NX_Q9BXI9 278 30861 5.92 0 Nucleus;Secreted NA PE1 22 +NX_Q9BXJ0 243 25298 6.05 0 Secreted Late-onset retinal degeneration PE1 11 +NX_Q9BXJ1 281 31743 6.42 0 Secreted NA PE1 17 +NX_Q9BXJ2 289 30683 5.11 0 Cytoplasmic vesicle;Secreted NA PE1 4 +NX_Q9BXJ3 329 35256 8.38 0 Secreted NA PE1 11 +NX_Q9BXJ4 246 26994 6.04 0 Golgi apparatus;Secreted NA PE1 5 +NX_Q9BXJ5 285 29952 9.04 0 Secreted NA PE1 5 +NX_Q9BXJ7 453 47754 5.76 1 Endosome;Coated pit;Apical cell membrane;Cell membrane Recessive hereditary megaloblastic anemia 1 PE1 14 +NX_Q9BXJ8 343 40610 9.14 5 Nucleus inner membrane NA PE1 7 +NX_Q9BXJ9 866 101272 7.23 0 Cytosol;Cytoplasm;Nucleus Mental retardation, autosomal dominant 50 PE1 4 +NX_Q9BXK1 252 25431 9.95 0 Nucleus NA PE1 19 +NX_Q9BXK5 485 52723 4.41 1 Mitochondrion;Nucleus;Mitochondrion membrane NA PE1 22 +NX_Q9BXL5 484 55341 4.82 0 Nucleus NA PE1 9 +NX_Q9BXL6 1004 113270 5.65 0 Cytoplasm Psoriasis 2;Pityriasis rubra pilaris PE1 17 +NX_Q9BXL7 1154 133284 5.78 0 Cytoplasm;Membrane raft Immunodeficiency 11 A;B-cell expansion with NFKB and T-cell anergy;Immunodeficiency 11B with atopic dermatitis PE1 7 +NX_Q9BXL8 241 26114 4.86 0 Nucleoplasm;Cytosol;Nucleus NA PE1 14 +NX_Q9BXM0 1461 154905 7.22 0 Golgi apparatus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Cell junction Charcot-Marie-Tooth disease 4F;Dejerine-Sottas syndrome PE1 19 +NX_Q9BXM7 581 62769 9.43 1 Cytosol;Mitochondrion inner membrane;Mitochondrion outer membrane Parkinson disease 6 PE1 1 +NX_Q9BXM9 530 59578 5.86 0 Cytoskeleton;Cell membrane NA PE1 9 +NX_Q9BXN1 380 43417 6.61 0 Nucleoplasm;Extracellular matrix Intervertebral disc disease;Osteoarthritis 3 PE1 9 +NX_Q9BXN2 247 27627 5.21 1 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Nucleoplasm Candidiasis, familial, 4 PE1 12 +NX_Q9BXN6 97 11029 5.87 0 Cytoplasm;Nucleus NA PE1 X +NX_Q9BXP2 914 96110 8.35 12 Cell membrane NA PE1 7 +NX_Q9BXP5 876 100666 5.7 0 Nucleoplasm;Cytoplasm NA PE1 7 +NX_Q9BXP8 1791 198539 5.26 0 Cytoplasmic vesicle;Endoplasmic reticulum;Secreted NA PE1 1 +NX_Q9BXQ6 578 58425 9.35 0 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA PE1 22 +NX_Q9BXR0 403 44048 6.82 0 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA PE1 19 +NX_Q9BXR3 956 107688 9.07 0 NA NA PE2 7 +NX_Q9BXR5 811 94564 6.32 1 Membrane NA PE1 4 +NX_Q9BXR6 569 64419 6.81 0 Secreted CFHR5 deficiency PE1 1 +NX_Q9BXS0 654 64771 8.6 1 Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum;Membrane Fibrosis of extraocular muscles, congenital, 5 PE1 4 +NX_Q9BXS1 227 26753 6.01 0 Peroxisome NA PE1 10 +NX_Q9BXS4 323 36223 5 1 Late endosome membrane;Lysosome membrane;Golgi apparatus membrane;Cell membrane NA PE1 1 +NX_Q9BXS5 423 48587 6.82 0 Clathrin-coated vesicle membrane;Golgi apparatus NA PE1 19 +NX_Q9BXS6 441 49452 9.92 0 Cytoplasm;Spindle;Nucleolus;Nucleus;Chromosome NA PE1 15 +NX_Q9BXS9 759 82967 8.57 8 Apical cell membrane;Basolateral cell membrane;Cytosol;Microsome;Cell membrane;Membrane;Cytoplasmic vesicle membrane NA PE1 3 +NX_Q9BXT2 260 28129 9.4 4 Cytosol;Nucleolus;Cell membrane NA PE1 19 +NX_Q9BXT4 1180 132024 5.96 0 Cytoplasm NA PE1 10 +NX_Q9BXT5 2789 315336 5.81 0 Cytoplasm;Nucleus;Nucleus speckle Spermatogenic failure 25 PE1 8 +NX_Q9BXT6 1211 135293 6.07 0 Cytoplasm NA PE1 22 +NX_Q9BXT8 1623 184643 5.27 0 Cytoplasm;Nucleus NA PE1 13 +NX_Q9BXU0 123 14107 5.22 0 NA NA PE1 11 +NX_Q9BXU1 1019 115694 5.04 0 NA NA PE1 7 +NX_Q9BXU2 312 33967 5.79 0 NA NA PE1 X +NX_Q9BXU3 409 45583 5.36 0 NA NA PE1 X +NX_Q9BXU7 913 104047 8.91 0 Nucleus NA PE1 X +NX_Q9BXU8 183 21142 6.05 0 NA NA PE1 X +NX_Q9BXU9 219 24837 4.76 1 Cytoplasmic vesicle;Perinuclear region;trans-Golgi network membrane;Cell membrane NA PE2 7 +NX_Q9BXV9 100 10859 4.08 0 Nucleolus;Nucleus NA PE1 14 +NX_Q9BXW3 62 6988 4.63 0 NA NA PE5 1 +NX_Q9BXW4 147 16852 9.14 0 Cytosol;Autophagosome membrane;Cytoskeleton;Autophagosome;Endomembrane system NA PE1 1 +NX_Q9BXW6 950 108470 5.96 0 Cytosol;Nucleoplasm;Late endosome NA PE1 18 +NX_Q9BXW7 423 46321 8.38 0 Mitochondrion NA PE1 22 +NX_Q9BXW9 1451 164128 5.58 0 Cytosol;Nucleolus;Nucleus Fanconi anemia complementation group D2 PE1 3 +NX_Q9BXX0 1053 115687 6.04 0 Extracellular matrix NA PE1 18 +NX_Q9BXX2 1392 158049 6.01 0 NA NA PE2 18 +NX_Q9BXX3 1397 158835 6.08 0 NA NA PE1 10 +NX_Q9BXY0 300 35369 5.27 0 Cytoplasmic vesicle;Nucleolus NA PE1 8 +NX_Q9BXY4 272 30929 9.53 0 Secreted NA PE1 6 +NX_Q9BXY5 557 63835 8.87 0 Nucleolus;Nucleus;Centrosome NA PE2 12 +NX_Q9BXY8 128 15321 5.89 0 Cytoplasm;Nucleus NA PE1 X +NX_Q9BY07 1137 126255 8.1 12 Apical cell membrane NA PE1 2 +NX_Q9BY08 206 23204 5.91 4 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 13 +NX_Q9BY10 475 51067 9.18 12 Cell membrane NA PE2 9 +NX_Q9BY11 444 50966 5.15 0 Synaptosome;Synapse;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Ruffle membrane;Membrane;Cytoplasmic vesicle membrane;Cell projection NA PE1 6 +NX_Q9BY12 1400 158287 7.21 0 Cytosol;Nucleus;Endoplasmic reticulum NA PE1 15 +NX_Q9BY14 249 26667 4.9 0 Cytoplasmic vesicle;Cell membrane;Membrane raft;Acrosome;Secreted NA PE1 19 +NX_Q9BY15 652 72621 8.41 7 Cell membrane;Secreted NA PE1 19 +NX_Q9BY19 250 26290 5.76 4 Membrane NA PE2 11 +NX_Q9BY21 358 41436 9.55 7 Mitochondrion;Nucleoplasm;Lipid droplet;Cell membrane NA PE2 3 +NX_Q9BY27 220 24932 7.02 0 Nucleus NA PE1 22 +NX_Q9BY31 904 105251 8.91 0 Nucleus NA PE1 3 +NX_Q9BY32 194 21446 5.5 0 Cytosol;Cytoplasm Inosine triphosphate pyrophosphohydrolase deficiency;Epileptic encephalopathy, early infantile, 35 PE1 20 +NX_Q9BY41 377 41758 5.36 0 Cytoplasm;Nucleus;Cell membrane Wilson-Turner X-linked mental retardation syndrome;Cornelia de Lange syndrome 5 PE1 X +NX_Q9BY42 306 33887 8.87 0 Nucleolus;Nucleus NA PE1 20 +NX_Q9BY43 222 25098 4.65 0 Cytoplasmic vesicle membrane;Late endosome membrane NA PE1 14 +NX_Q9BY44 585 64990 9 0 Cytosol;Mitochondrion NA PE1 3 +NX_Q9BY49 303 32544 8.97 0 Peroxisome NA PE1 2 +NX_Q9BY50 192 21542 9.2 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 18 +NX_Q9BY60 117 13976 8.71 0 Autophagosome membrane;Cytoskeleton NA PE2 15 +NX_Q9BY64 529 60906 8.84 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 4 +NX_Q9BY65 106 11990 7.72 0 NA NA PE4 3 +NX_Q9BY66 1539 174073 5.59 0 Nucleolus;Nucleus NA PE1 Y +NX_Q9BY67 442 48509 4.94 1 Synapse;Cell junction;Cell membrane NA PE1 11 +NX_Q9BY71 257 28108 6.45 1 Membrane NA PE1 21 +NX_Q9BY76 406 45214 9.07 0 Cytoplasmic vesicle;Nucleoplasm;Secreted;Extracellular matrix NA PE1 19 +NX_Q9BY77 421 46089 10 0 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA PE1 22 +NX_Q9BY78 433 47737 8.86 5 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cytosol;Nucleoplasm NA PE1 11 +NX_Q9BY79 579 62212 4.84 1 Apical cell membrane Microphthalmia, isolated, 5;Nanophthalmos 2 PE1 11 +NX_Q9BY84 665 73102 7.24 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA PE1 12 +NX_Q9BY89 1806 196711 8.69 0 Cytoskeleton NA PE1 22 +NX_Q9BYB0 1731 184667 8.99 0 Postsynaptic density;Dendritic spine;Cytoplasm Phelan-McDermid syndrome;Schizophrenia 15 PE1 22 +NX_Q9BYB4 327 35618 8.27 0 Cytosol NA PE1 22 +NX_Q9BYC2 517 56140 6.73 0 Mitochondrion NA PE1 1 +NX_Q9BYC5 575 66516 7.36 1 Cytosol;Golgi stack membrane;Golgi apparatus Congenital disorder of glycosylation with defective fucosylation PE1 14 +NX_Q9BYC8 188 21405 9.78 0 Mitochondrion NA PE1 7 +NX_Q9BYC9 149 17443 10.87 0 Mitochondrion NA PE1 1 +NX_Q9BYD1 178 20692 9.18 0 Mitochondrion NA PE1 8 +NX_Q9BYD2 267 30243 10.09 0 Mitochondrion NA PE1 1 +NX_Q9BYD3 311 34919 9.73 0 Cytosol;Mitochondrion;Nucleolus;Nucleus;Endoplasmic reticulum NA PE1 19 +NX_Q9BYD5 112 12376 5.7 0 Cytoplasm;Cytoskeleton NA PE1 19 +NX_Q9BYD6 325 36909 8.88 0 Mitochondrion NA PE1 4 +NX_Q9BYD9 372 41008 5.53 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA PE1 3 +NX_Q9BYE0 225 24899 10.49 0 Nucleoplasm;Nucleus Spondylocostal dysostosis 4, autosomal recessive PE1 17 +NX_Q9BYE2 586 63153 8.96 1 Membrane NA PE1 11 +NX_Q9BYE3 92 9444 9.03 0 NA NA PE1 1 +NX_Q9BYE4 73 8158 8.3 0 Cytoplasm NA PE1 1 +NX_Q9BYE7 350 39047 4.92 0 Nucleus NA PE1 10 +NX_Q9BYE9 1310 141543 4.31 1 Microvillus membrane;Apical cell membrane;Cell junction NA PE1 5 +NX_Q9BYF1 805 92463 5.36 1 Cytoplasm;Cell membrane;Secreted NA PE1 X +NX_Q9BYG0 378 44053 8 1 Nucleolus;Golgi apparatus membrane NA PE1 3 +NX_Q9BYG3 293 34222 9.88 0 Nucleolus;Nucleus;Chromosome NA PE1 2 +NX_Q9BYG4 376 40883 8.36 0 Cytoplasm;Cell membrane;Tight junction NA PE1 18 +NX_Q9BYG5 372 41182 5.37 0 Cytosol;Cytoplasm;Tight junction;Cell membrane NA PE1 20 +NX_Q9BYG7 248 29054 9.93 0 Nucleolus NA PE2 18 +NX_Q9BYG8 508 57692 5.55 0 Mitochondrion;Cytosol;Cell membrane NA PE1 8 +NX_Q9BYH1 1024 111782 4.68 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA PE1 22 +NX_Q9BYH8 718 78061 6.15 0 Cytosol;Nucleus speckle;Nucleus NA PE1 3 +NX_Q9BYI3 521 57625 8.45 0 Cytosol;Cell membrane Leukodystrophy, hypomyelinating, 5 PE1 7 +NX_Q9BYJ0 223 24581 9.15 0 Extracellular space NA PE1 4 +NX_Q9BYJ1 711 80543 6.53 0 Cytosol;Cytoplasm;Cell membrane Ichthyosis, congenital, autosomal recessive 3 PE1 17 +NX_Q9BYJ4 488 56864 7.43 0 Cytoplasm;Nucleolus;Centrosome NA PE1 11 +NX_Q9BYJ9 559 60874 8.86 0 Cytoplasm NA PE1 20 +NX_Q9BYK8 2649 294651 7.36 0 Nucleus NA PE1 20 +NX_Q9BYL1 202 22770 10.02 0 Nucleoplasm NA PE1 20 +NX_Q9BYM8 510 57572 5.47 0 NA Polyglucosan body myopathy 1 with or without immunodeficiency PE1 20 +NX_Q9BYN0 137 14259 7.92 0 Cytoplasm;Nucleus NA PE1 20 +NX_Q9BYN7 854 92728 9.11 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 20 +NX_Q9BYN8 205 24212 10.39 0 Mitochondrion NA PE1 20 +NX_Q9BYP7 1800 198416 5.77 0 Cytoplasmic vesicle;Cytoplasm NA PE1 X +NX_Q9BYP8 105 9504 3.83 0 NA NA PE3 17 +NX_Q9BYP9 154 16266 8.22 0 NA NA PE1 17 +NX_Q9BYQ0 159 16723 8.04 0 NA NA PE1 17 +NX_Q9BYQ2 154 16378 7.95 0 NA NA PE1 17 +NX_Q9BYQ3 159 16854 7.93 0 NA NA PE1 17 +NX_Q9BYQ4 174 18287 8.15 0 NA NA PE1 17 +NX_Q9BYQ5 205 21825 8.43 0 NA NA PE1 17 +NX_Q9BYQ6 195 20927 8.4 0 NA NA PE1 17 +NX_Q9BYQ7 146 15241 8.15 0 NA NA PE1 17 +NX_Q9BYQ8 210 22405 8.29 0 NA NA PE1 17 +NX_Q9BYQ9 185 19627 8.21 0 NA NA PE1 17 +NX_Q9BYR0 210 22535 8.31 0 NA NA PE1 17 +NX_Q9BYR2 181 19363 8.25 0 NA NA PE1 17 +NX_Q9BYR3 166 18023 8.39 0 NA NA PE1 17 +NX_Q9BYR4 195 20504 8.43 0 NA NA PE1 17 +NX_Q9BYR5 136 14462 8.31 0 NA NA PE1 17 +NX_Q9BYR6 98 10365 5.4 0 NA NA PE1 17 +NX_Q9BYR7 98 10407 5.4 0 NA NA PE1 17 +NX_Q9BYR8 98 10539 5.99 0 NA NA PE1 17 +NX_Q9BYR9 128 13480 8.32 0 NA NA PE1 17 +NX_Q9BYS1 174 18010 6.59 0 NA NA PE1 17 +NX_Q9BYS8 371 42943 5.79 0 NA NA PE1 3 +NX_Q9BYT1 436 47482 7.96 10 Nucleoplasm;Membrane Porokeratosis 8, disseminated superficial actinic type PE1 20 +NX_Q9BYT3 514 57831 6.6 0 Cytosol;Perinuclear region;Nucleolus;Nucleus NA PE1 11 +NX_Q9BYT5 123 12957 8.26 0 NA NA PE2 17 +NX_Q9BYT8 704 80652 6.21 0 Mitochondrion;Cytoplasm;Mitochondrion intermembrane space NA PE1 5 +NX_Q9BYT9 981 114657 8.87 8 Cell membrane Dystonia 24 PE1 11 +NX_Q9BYU1 374 40854 9.05 0 Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_Q9BYU5 128 13514 8.32 0 NA NA PE2 17 +NX_Q9BYV1 514 57156 8.08 0 Mitochondrion NA PE1 5 +NX_Q9BYV2 358 40301 5.15 0 Cytoskeleton;Z line NA PE1 2 +NX_Q9BYV6 548 60466 4.74 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA PE1 8 +NX_Q9BYV7 579 65674 8.65 0 Mitochondrion NA PE1 11 +NX_Q9BYV8 373 41368 8.46 0 Cilium basal body;Centrosome;Cilium Joubert syndrome 15 PE1 7 +NX_Q9BYV9 841 92537 5 0 Cytosol;Cytoplasm;Nucleus NA PE1 6 +NX_Q9BYW1 496 53703 8.57 12 Nucleus;Cell junction;Cell membrane NA PE2 22 +NX_Q9BYW2 2564 287597 5.8 0 Cytosol;Nucleus speckle;Nucleus;Chromosome Luscan-Lumish syndrome;Leukemia, acute myelogenous;Leukemia, acute lymphoblastic;Renal cell carcinoma PE1 3 +NX_Q9BYW3 111 12174 9.47 0 Secreted NA PE1 20 +NX_Q9BYX2 928 105414 6.15 0 Cytosol;Cytoplasmic vesicle;Nucleus;Cell junction;Cytoplasm NA PE1 9 +NX_Q9BYX4 1025 116689 5.38 0 Cytoplasm;Nucleus Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1;Diabetes mellitus, insulin-dependent, 19 PE1 2 +NX_Q9BYX7 375 42016 5.91 0 Cytoskeleton NA PE5 2 +NX_Q9BYZ2 381 41943 8.88 0 NA NA PE1 15 +NX_Q9BYZ6 727 82626 6.27 0 Cell membrane Epileptic encephalopathy, early infantile, 64 PE1 8 +NX_Q9BYZ8 158 18230 9.33 0 Secreted NA PE1 1 +NX_Q9BZ11 813 87739 6.54 1 Nucleus speckle;Cell membrane;Membrane Asthma PE1 20 +NX_Q9BZ19 345 37630 9.2 0 NA NA PE4 20 +NX_Q9BZ23 570 62681 9.39 0 Cytosol;Cytoplasm;Mitochondrion Neurodegeneration with brain iron accumulation 1;Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration PE1 20 +NX_Q9BZ29 2069 236446 7.25 0 Endomembrane system NA PE1 13 +NX_Q9BZ67 464 51218 5.83 0 Cytosol;Nucleolus;Nucleus NA PE1 11 +NX_Q9BZ68 369 41136 5.54 0 NA NA PE5 X +NX_Q9BZ71 974 106781 6.69 0 Cell membrane;Endomembrane system Cone-rod dystrophy 5 PE1 17 +NX_Q9BZ72 1349 148933 6.72 0 Cytoplasmic vesicle;Endomembrane system NA PE1 12 +NX_Q9BZ76 1288 140690 8.02 1 Cell membrane;Secreted NA PE1 9 +NX_Q9BZ81 275 31906 7.56 0 NA NA PE2 X +NX_Q9BZ95 1437 161613 8.57 0 Mitochondrion;Nucleoplasm;Nucleus;Chromosome NA PE1 8 +NX_Q9BZ97 58 6256 4.45 1 Membrane NA PE5 Y +NX_Q9BZ98 90 10490 9.55 0 NA NA PE5 Y +NX_Q9BZA0 68 7782 9.63 0 NA NA PE5 Y +NX_Q9BZA5 131 14632 5.22 0 NA NA PE5 Y +NX_Q9BZA7 1347 147558 5.04 1 Cell membrane NA PE1 X +NX_Q9BZA8 1340 146775 5.03 1 Cell membrane NA PE1 Y +NX_Q9BZB8 566 62595 7.55 0 Nucleoplasm;Synapse;P-body;Dendrite;Cytosol;Cytoplasm;Cytoplasmic granule;Nucleus;Membrane;Postsynaptic density NA PE1 15 +NX_Q9BZC1 486 51966 8.11 0 Cytoplasm;Nucleus NA PE1 18 +NX_Q9BZC7 2435 269833 6.37 14 Endosome membrane;Lysosome membrane NA PE1 9 +NX_Q9BZD2 475 51815 7.95 11 Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane;Golgi apparatus;Membrane Histiocytosis-lymphadenopathy plus syndrome PE1 10 +NX_Q9BZD3 368 41713 6.36 0 NA NA PE5 4 +NX_Q9BZD4 464 54304 8.41 0 Kinetochore;Nucleus NA PE1 1 +NX_Q9BZD6 226 25403 7.08 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus NA PE1 11 +NX_Q9BZD7 231 25875 5.75 1 Membrane NA PE2 X +NX_Q9BZE0 524 55689 9.08 0 Cytosol;Cytoplasm;Nucleoplasm;Cell membrane;Nucleus speckle Nephronophthisis 7 PE1 16 +NX_Q9BZE1 423 48117 8.83 0 Mitochondrion;Cytoplasm NA PE1 1 +NX_Q9BZE2 481 55647 7.2 0 Cytosol;Nucleus Mental retardation, autosomal recessive 55 PE1 11 +NX_Q9BZE3 327 35074 9.05 0 Nucleus NA PE2 9 +NX_Q9BZE4 634 73964 9.52 0 Nucleolus;Nucleus membrane NA PE1 10 +NX_Q9BZE7 217 24956 9.83 0 Nucleus NA PE1 22 +NX_Q9BZE9 553 60183 6.23 0 Nucleoplasm;Cytoplasm;Cell membrane;Endomembrane system;Cytoplasmic vesicle;Nucleus;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 17 +NX_Q9BZF1 889 101196 6.52 1 Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum membrane;Nucleus membrane;Cell membrane NA PE1 12 +NX_Q9BZF2 842 95432 8.31 0 Cytosol;Endoplasmic reticulum membrane;Cell membrane;Nucleoplasm NA PE1 17 +NX_Q9BZF3 934 106306 6.48 0 Cytosol;Endoplasmic reticulum membrane;Nucleus envelope;Cell membrane NA PE1 2 +NX_Q9BZF9 1416 162505 6.6 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA PE1 15 +NX_Q9BZG1 259 29044 8.07 0 Phagosome membrane;Cytoplasm;Phagosome;Golgi apparatus;Cilium NA PE1 17 +NX_Q9BZG2 426 46090 8.45 1 Membrane Amelogenesis imperfecta 1J PE1 19 +NX_Q9BZG8 443 48805 8.47 0 Nucleoplasm;Cytoplasm;Nucleus;Cell junction Developmental delay with short stature, dysmorphic features, and sparse hair PE1 17 +NX_Q9BZH6 1224 136685 6.48 0 trans-Golgi network;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Cilium axoneme;Cytoskeleton;Cilium basal body Hypogonadotropic hypogonadism 14 with or without anosmia PE1 10 +NX_Q9BZI1 471 49129 5.14 0 Nucleolus;Nucleus NA PE1 5 +NX_Q9BZI7 483 57762 9.48 0 Cytosol;Cytoplasm;Nucleolus;Nucleus Mental retardation, X-linked, syndromic, 14 PE1 X +NX_Q9BZJ0 848 100452 8.1 0 Nucleus speckle;Nucleus NA PE1 20 +NX_Q9BZJ3 242 26584 5.51 0 Nucleus speckle;Secreted NA PE1 16 +NX_Q9BZJ4 359 39249 9.68 6 Mitochondrion;Mitochondrion inner membrane NA PE1 17 +NX_Q9BZJ6 419 47578 9.6 7 Cytosol;Nucleus;Cell membrane NA PE2 6 +NX_Q9BZJ7 368 37614 10.86 7 Endosome membrane;Cell membrane NA PE1 3 +NX_Q9BZJ8 451 49292 6.19 7 Endosome membrane;Cell membrane NA PE1 1 +NX_Q9BZK3 213 23306 4.53 0 NA NA PE5 8 +NX_Q9BZK7 514 55595 5.28 0 Nucleoplasm;Nucleus Mental retardation, autosomal dominant 41;Pierpont syndrome PE1 3 +NX_Q9BZK8 76 8369 8.97 0 NA NA PE4 1 +NX_Q9BZL1 73 8547 8.58 0 Cytoplasm NA PE1 19 +NX_Q9BZL3 60 6593 6.69 1 Cytoplasmic vesicle;Membrane NA PE1 5 +NX_Q9BZL4 782 84881 5.44 0 Cytoplasm;Stress fiber NA PE1 19 +NX_Q9BZL6 878 96722 6.39 0 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;trans-Golgi network NA PE1 19 +NX_Q9BZM1 189 21067 6.95 0 Cytoplasm;Secreted NA PE1 4 +NX_Q9BZM2 168 18658 5.09 0 Cell membrane;Secreted NA PE1 1 +NX_Q9BZM3 304 32031 9.22 0 Nucleus NA PE2 4 +NX_Q9BZM4 244 27949 8.2 0 Cytoplasmic vesicle;Cell membrane;Microtubule organizing center NA PE1 6 +NX_Q9BZM5 246 27368 6.93 0 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane;Secreted NA PE1 6 +NX_Q9BZM6 244 27997 7.07 0 Cytosol;Cytoskeleton;Cell membrane;Endoplasmic reticulum NA PE1 6 +NX_Q9BZP3 86 9646 4.99 0 NA NA PE5 18 +NX_Q9BZP6 476 52271 5.54 0 Cytoplasm;Secreted NA PE1 1 +NX_Q9BZQ2 653 72632 5.2 0 Spindle NA PE1 1 +NX_Q9BZQ4 307 34439 6.59 0 Axon;Cytoplasm;Cytoplasmic vesicle membrane;Golgi apparatus membrane NA PE1 1 +NX_Q9BZQ6 932 104664 4.82 0 Endoplasmic reticulum lumen;Endoplasmic reticulum NA PE1 1 +NX_Q9BZQ8 928 103135 4.74 0 Cytosol;Cytoplasm;Cell membrane;Membrane NA PE1 1 +NX_Q9BZR6 473 50708 9.22 0 Perikaryon;Cell membrane;Axon;Dendrite;Focal adhesion;Endoplasmic reticulum;Cytoskeleton;Membrane raft Schizophrenia PE1 22 +NX_Q9BZR8 327 36598 6.17 0 Cytosol;Cytoplasm;Endomembrane system NA PE1 12 +NX_Q9BZR9 551 61489 7.26 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA PE1 10 +NX_Q9BZS1 431 47244 9.52 0 Nucleoplasm;Cytoplasm;Nucleus Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome PE1 X +NX_Q9BZS9 49 5619 5.91 0 NA NA PE5 7 +NX_Q9BZV1 441 49754 6.46 0 Lysosome membrane;Golgi apparatus;Cytosol;Cytoplasm;Early endosome membrane;Late endosome membrane;Nucleus;Membrane;Centrosome NA PE1 19 +NX_Q9BZV2 496 55665 6.01 12 Nucleoplasm;Cytosol;Membrane Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type PE1 2 +NX_Q9BZV3 1241 138621 4.52 1 Membrane Retinitis pigmentosa 56;Macular dystrophy, vitelliform, 5 PE1 3 +NX_Q9BZW2 595 66134 8.35 13 Membrane NA PE1 7 +NX_Q9BZW4 377 42554 7.95 9 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 19 +NX_Q9BZW5 370 41636 7.55 9 Lysosome membrane NA PE1 15 +NX_Q9BZW7 698 81421 5.73 0 Centriole;Cytoplasm;Cytosol Spermatogenic failure 26 PE1 2 +NX_Q9BZW8 370 41616 9.14 1 Cell membrane;Membrane NA PE1 1 +NX_Q9BZX2 261 29299 6.24 0 Nucleus NA PE1 1 +NX_Q9BZX4 212 23964 5.11 0 Flagellum NA PE1 3 +NX_Q9BZY9 425 48244 7.55 0 Mitochondrion;Cytoplasm NA PE1 6 +NX_Q9BZZ2 1709 182624 6.15 1 Cell membrane;Secreted NA PE1 20 +NX_Q9BZZ5 524 59005 6.99 0 Cytoplasm;Nucleus;Nucleus speckle NA PE1 11 +NX_Q9C000 1473 165866 6.39 0 Nucleoplasm;Cytosol;Inflammasome;Nucleus;Cytoplasm Autoinflammation with arthritis and dyskeratosis;Vitiligo-associated multiple autoimmune disease 1;Palmoplantar carcinoma, multiple self-healing PE1 17 +NX_Q9C002 83 9617 9.45 0 Nucleus NA PE1 15 +NX_Q9C004 299 32541 8.25 0 Cytoplasm;Ruffle membrane Hypogonadotropic hypogonadism 17 with or without anosmia PE1 5 +NX_Q9C005 99 11250 4.84 0 Nucleoplasm;Nucleus;Golgi apparatus;trans-Golgi network NA PE1 2 +NX_Q9C009 403 41526 9.52 0 Nucleus NA PE1 6 +NX_Q9C010 78 8468 4.76 0 NA NA PE1 6 +NX_Q9C019 465 52113 5.4 0 NA NA PE1 6 +NX_Q9C026 710 79177 6.4 0 Synapse;Cytosol;Cytoplasm;Dendrite;Cytoskeleton;Synaptic vesicle NA PE1 14 +NX_Q9C029 511 56631 7.81 0 Cytoplasmic vesicle;Nucleoplasm;Cytosol NA PE1 5 +NX_Q9C030 488 56400 7.5 0 Cytoplasm NA PE1 11 +NX_Q9C035 493 56338 5.73 0 Cytosol;Cytoplasm;Nucleus NA PE1 11 +NX_Q9C037 500 57461 8.4 0 Cytosol;Cytoplasm;Cell membrane NA PE1 7 +NX_Q9C040 744 81530 6.51 0 Cytoplasm;Centrosome Charcot-Marie-Tooth disease 2R PE1 4 +NX_Q9C056 277 29263 9.71 0 Nucleus Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy PE1 10 +NX_Q9C073 453 48319 8.67 0 Nucleoplasm NA PE1 17 +NX_Q9C075 422 48131 6.09 0 Cytosol;Cytoskeleton NA PE1 17 +NX_Q9C086 356 38637 9.66 0 Nucleolus;Nucleus NA PE1 2 +NX_Q9C091 1923 214354 6.18 1 Mitochondrion;Nucleolus;Membrane Renal hypodysplasia/aplasia 3 PE1 18 +NX_Q9C093 1822 209811 5.4 0 Cytoplasm;Golgi apparatus NA PE1 5 +NX_Q9C098 648 73814 9 0 Cytoplasm;Nucleus NA PE2 3 +NX_Q9C099 1032 119596 5.62 0 Centriole NA PE1 8 +NX_Q9C0A0 1308 145274 6.22 1 Presynaptic cell membrane NA PE1 16 +NX_Q9C0A1 2572 274176 5.59 0 Nucleolus;Nucleus Marsili syndrome PE1 14 +NX_Q9C0A6 1442 157515 8.74 0 Cytosol;Nucleus Mental retardation, autosomal dominant 23 PE1 3 +NX_Q9C0B0 810 88084 6.4 0 Cytosol;Cytoplasm NA PE1 17 +NX_Q9C0B1 505 58282 5.1 0 Cytosol;Nucleus speckle;Cytoplasmic vesicle;Nucleus;Cytoplasm Obesity;Growth retardation, developmental delay, and facial dysmorphism PE1 16 +NX_Q9C0B2 1584 178589 6.01 0 Cilium axoneme NA PE1 1 +NX_Q9C0B5 715 77545 9.17 4 Cytosol;Nucleoplasm;Cell junction;Cell membrane NA PE1 11 +NX_Q9C0B6 783 89005 8.18 0 Cytoplasmic vesicle;Nucleolus;Secreted NA PE1 1 +NX_Q9C0B7 1094 120748 5.75 1 Cytosol;Golgi apparatus;Membrane NA PE1 16 +NX_Q9C0B9 1178 125936 6.55 0 Cytosol;Nucleolus;Nucleus NA PE1 18 +NX_Q9C0C2 1729 181796 4.77 0 Cytoskeleton;Nucleus;Chromosome NA PE1 11 +NX_Q9C0C4 833 92623 6.92 1 Postsynaptic density;Synaptic vesicle membrane NA PE1 2 +NX_Q9C0C6 399 42692 9.08 0 Cytosol;Nucleolus;Nucleus NA PE1 14 +NX_Q9C0C7 1298 142507 6.73 0 Mitochondrion;Cytoplasmic vesicle;Autophagosome NA PE1 11 +NX_Q9C0C9 1292 141293 5.01 0 Cytoplasm;Nucleus NA PE1 17 +NX_Q9C0D0 580 66308 6.51 0 Cytoplasm;Synapse;Nucleus;Cell membrane NA PE1 6 +NX_Q9C0D2 2601 295176 5.68 0 Cytosol;Cell membrane;Centrosome;Centriole;Cytoskeleton;Spindle NA PE1 11 +NX_Q9C0D3 744 83921 6.38 0 Cytoskeleton;Golgi apparatus NA PE1 1 +NX_Q9C0D4 1074 119531 9.52 0 Nucleus NA PE1 4 +NX_Q9C0D5 1861 202219 8.63 0 Postsynaptic density NA PE1 2 +NX_Q9C0D6 1143 124762 9.17 0 Cilium;Golgi apparatus NA PE1 4 +NX_Q9C0D7 883 99340 6.48 0 Golgi apparatus;Nucleus membrane NA PE1 11 +NX_Q9C0D9 397 45229 6.12 10 Membrane NA PE1 2 +NX_Q9C0E2 1151 130139 4.95 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 13 +NX_Q9C0E4 1043 112573 6.02 0 Cytosol;Cytoplasm;Membrane NA PE1 3 +NX_Q9C0E8 428 47740 5.07 2 Endoplasmic reticulum membrane;Nucleoplasm;Endoplasmic reticulum NA PE1 2 +NX_Q9C0F0 2248 241919 5.8 0 Nucleus Bainbridge-Ropers syndrome PE1 18 +NX_Q9C0F1 390 44140 5.13 0 Midbody;Centrosome;Spindle pole NA PE1 4 +NX_Q9C0F3 470 54277 6.75 0 Nucleoplasm;Cytosol;Nucleus NA PE1 1 +NX_Q9C0G0 2248 247367 6.05 0 Nucleoplasm;Nucleus;Cell membrane NA PE1 18 +NX_Q9C0G6 4158 475983 5.72 0 Cilium axoneme NA PE1 2 +NX_Q9C0H2 523 57545 5.19 5 Cell membrane NA PE1 7 +NX_Q9C0H5 1083 121286 7.3 0 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus NA PE1 8 +NX_Q9C0H6 718 80245 6.39 0 Cytoskeleton;Microtubule organizing center NA PE1 X +NX_Q9C0H9 1183 127105 9.39 0 Synapse;Cytoplasm;Axon;Dendrite;Postsynaptic density;Cytoskeleton;Cell junction NA PE1 17 +NX_Q9C0I1 747 86148 6.17 0 Sarcomere;Cytoplasm;Sarcoplasmic reticulum NA PE1 5 +NX_Q9C0I3 900 99510 7.88 0 NA NA PE1 4 +NX_Q9C0I4 1608 179402 7.93 1 Nucleoplasm;Cytosol;Membrane NA PE1 2 +NX_Q9C0I9 530 60089 9.62 0 Nucleus;Golgi apparatus NA PE2 10 +NX_Q9C0J1 378 42310 9.44 1 Mitochondrion;Nucleolus;Golgi apparatus membrane NA PE1 12 +NX_Q9C0J8 1336 145891 9.24 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 2 +NX_Q9C0J9 482 50498 6.95 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q9C0K0 894 95519 6.1 0 Nucleolus;Nucleus Immunodeficiency 49 PE1 14 +NX_Q9C0K1 460 49631 5.71 8 Membrane Congenital disorder of glycosylation 2N PE1 4 +NX_Q9C0K3 210 23712 5.36 0 NA NA PE2 7 +NX_Q9C0K7 418 47026 6.52 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q9GIP4 190 19840 6.72 3 Membrane NA PE5 16 +NX_Q9GIY3 266 30139 8.22 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA PE1 6 +NX_Q9GZK3 357 40412 8.61 7 Cell membrane NA PE2 6 +NX_Q9GZK4 316 35339 9.02 7 Cell membrane NA PE2 6 +NX_Q9GZK6 312 35454 8.31 7 Cell membrane NA PE3 6 +NX_Q9GZK7 315 35250 8.05 7 Cell membrane NA PE2 6 +NX_Q9GZL7 423 47708 5.57 0 Nucleoplasm;Cytosol;Nucleolus;Nucleus;Cell membrane NA PE1 2 +NX_Q9GZL8 116 12676 4.52 0 NA NA PE2 3 +NX_Q9GZM3 115 13088 6.28 0 Nucleus NA PE1 7 +NX_Q9GZM5 350 38248 5.47 5 Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;cis-Golgi network membrane;Endoplasmic reticulum NA PE1 6 +NX_Q9GZM6 311 34857 8.37 7 Cell membrane NA PE2 11 +NX_Q9GZM7 467 52387 6.54 0 Secreted NA PE1 1 +NX_Q9GZM8 345 38375 5.16 0 Kinetochore;Spindle;Cytoskeleton;Centrosome NA PE1 17 +NX_Q9GZN0 384 40246 9.8 7 Cytoplasm;Nucleus;Cell membrane Chorea, childhood-onset, with psychomotor retardation PE2 1 +NX_Q9GZN1 396 45810 4.92 0 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA PE1 12 +NX_Q9GZN2 237 25878 7.77 0 Nucleoplasm;Nucleus NA PE1 20 +NX_Q9GZN4 317 33732 7.55 0 Nucleoplasm;Secreted NA PE1 16 +NX_Q9GZN6 736 82200 8.59 12 Golgi apparatus;Membrane NA PE1 19 +NX_Q9GZN7 287 32254 8.3 0 Perikaryon;Cytoplasm;Nucleus envelope;Axon;Dendrite;Nucleus;Presynaptic cell membrane;Synaptic vesicle Kohlschuetter-Toenz syndrome PE1 16 +NX_Q9GZN8 174 19291 6.34 0 Nucleoplasm;Cytosol NA PE1 20 +NX_Q9GZP0 370 42848 8.28 0 Cytoplasmic vesicle;Golgi apparatus;Secreted NA PE1 11 +NX_Q9GZP1 204 21983 4.69 2 Golgi apparatus;Nucleoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol;Membrane NA PE1 20 +NX_Q9GZP4 211 24178 5.47 0 NA NA PE1 1 +NX_Q9GZP7 353 40021 9.46 7 Cytoplasmic vesicle;Nucleus;Cell membrane NA PE2 19 +NX_Q9GZP8 106 10897 9.73 0 Cytosol;Nucleus;Cell membrane NA PE1 19 +NX_Q9GZP9 239 27567 6.73 4 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 17 +NX_Q9GZQ3 224 24670 6.52 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 8 +NX_Q9GZQ4 415 47696 8.96 7 Cell membrane NA PE1 5 +NX_Q9GZQ6 430 47819 9.54 7 Cell membrane NA PE2 10 +NX_Q9GZQ8 125 14688 8.89 0 Autophagosome membrane;Cytoplasm;Endomembrane system;Nucleus;Autophagosome;Cytoskeleton NA PE1 16 +NX_Q9GZR1 1112 126146 6.3 0 Nucleoplasm;Cytosol;Nucleus NA PE1 6 +NX_Q9GZR2 422 46672 9.79 0 Nucleolus;Nucleus NA PE1 9 +NX_Q9GZR5 314 36829 9.49 7 Endoplasmic reticulum membrane Spinocerebellar ataxia 34;Stargardt disease 3;Ichthyosis, spastic quadriplegia, and mental retardation PE1 6 +NX_Q9GZR7 859 96332 9.14 0 Cytosol;Nucleolus;Nucleus NA PE1 14 +NX_Q9GZS0 605 68821 4.68 0 Cilium axoneme Ciliary dyskinesia, primary, 9 PE1 17 +NX_Q9GZS1 419 47260 9.1 0 Nucleolus;Nucleus NA PE1 9 +NX_Q9GZS3 305 33581 5.16 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 15 +NX_Q9GZS9 411 46161 10.07 1 Golgi apparatus membrane NA PE1 16 +NX_Q9GZT3 109 12349 10.26 0 Mitochondrion;Nucleus NA PE1 14 +NX_Q9GZT4 340 36566 6.11 0 Cytoplasmic vesicle NA PE1 17 +NX_Q9GZT5 417 46444 9.38 0 Extracellular matrix;Secreted Tooth agenesis, selective, 4;Odonto-onycho-dermal dysplasia;Schopf-Schulz-Passarge syndrome PE1 2 +NX_Q9GZT6 254 29506 6.99 1 Mitochondrion;Mitochondrion membrane NA PE1 11 +NX_Q9GZT8 377 41968 6.19 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 2 +NX_Q9GZT9 426 46021 8.83 0 Cytosol;Cytoplasm;Nucleus Erythrocytosis, familial, 3 PE1 1 +NX_Q9GZU0 229 27083 9.05 0 Cytosol;Cytoplasm;Nucleus NA PE1 6 +NX_Q9GZU1 580 65022 6.9 6 Phagocytic cup;Cytosol;Cell membrane;Lysosome membrane;Late endosome membrane;Phagosome membrane;Cytoplasmic vesicle membrane Mucolipidosis 4 PE1 19 +NX_Q9GZU2 1588 180827 5.31 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 19 +NX_Q9GZU3 492 56274 9.51 8 Cytoplasmic vesicle;Membrane NA PE1 1 +NX_Q9GZU5 481 52000 9.1 0 Extracellular matrix Night blindness, congenital stationary, 1A PE1 X +NX_Q9GZU7 261 29203 5.62 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q9GZU8 254 28912 5.38 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 16 +NX_Q9GZV1 360 39859 5.72 0 Cytoplasmic vesicle;I band;Nucleus;Cytosol;PML body NA PE1 10 +NX_Q9GZV3 580 63204 5 13 Synapse;Cell membrane;Nucleus;Membrane;Cytoskeleton;Cell junction Neuronopathy, distal hereditary motor, 7A;Myasthenic syndrome, congenital, 20, presynaptic PE1 2 +NX_Q9GZV4 153 16793 5.38 0 Endoplasmic reticulum membrane;Cytoplasm;Nuclear pore complex;Nucleus;Cytoplasmic vesicle NA PE1 3 +NX_Q9GZV5 400 44101 5.49 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 3 +NX_Q9GZV7 340 37775 9.12 0 Extracellular matrix NA PE1 1 +NX_Q9GZV8 571 64062 6.65 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q9GZV9 251 27954 9.17 0 Secreted Hypophosphatemic rickets, autosomal dominant;Tumoral calcinosis, hyperphosphatemic, familial, 2 PE1 12 +NX_Q9GZW5 306 34217 10.67 0 Nucleus NA PE5 15 +NX_Q9GZW8 240 26131 6.17 4 Membrane NA PE2 11 +NX_Q9GZX3 395 44099 10.03 1 Golgi apparatus membrane Macular dystrophy, corneal PE1 16 +NX_Q9GZX5 532 60011 8.92 0 Nucleoplasm;Nucleus;Nucleus matrix NA PE1 19 +NX_Q9GZX6 179 20011 7.65 0 Secreted NA PE1 12 +NX_Q9GZX7 198 23954 9.5 0 Cytoplasm;Nucleus Immunodeficiency with hyper-IgM 2 PE1 12 +NX_Q9GZX9 223 25017 5.17 0 Cytosol;Centrosome;Secreted NA PE1 18 +NX_Q9GZY0 626 71627 7.74 0 Nucleoplasm;Cytoplasm NA PE1 X +NX_Q9GZY1 135 15722 9.77 0 Cytoplasm;Nucleus NA PE2 6 +NX_Q9GZY4 146 16694 8.76 1 Mitochondrion;Mitochondrion inner membrane NA PE1 7 +NX_Q9GZY6 243 26550 4.69 1 Cell membrane NA PE1 7 +NX_Q9GZY8 342 38465 9.01 1 Mitochondrion;Peroxisome;Synaptic vesicle;Mitochondrion outer membrane Encephalopathy due to defective mitochondrial and peroxisomal fission 2 PE1 2 +NX_Q9GZZ0 328 34093 9.15 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q9GZZ1 169 19398 8.96 0 Cytoplasm;Nucleus NA PE1 3 +NX_Q9GZZ6 450 49705 8.2 4 Postsynaptic cell membrane;Cell membrane NA PE1 11 +NX_Q9GZZ7 299 31670 10.47 0 Cell membrane;Secreted NA PE1 20 +NX_Q9GZZ8 138 14246 5.44 0 Secreted NA PE1 12 +NX_Q9GZZ9 404 44863 4.79 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Golgi apparatus Spinocerebellar ataxia, autosomal recessive, 24;Epileptic encephalopathy, early infantile, 44 PE1 3 +NX_Q9H000 416 46940 7.73 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 3 +NX_Q9H008 270 29165 5.8 0 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA PE1 10 +NX_Q9H009 215 23223 4.68 0 Cytoplasm;Nucleus NA PE1 17 +NX_Q9H013 955 104997 8.75 1 Cytoplasmic vesicle;Membrane NA PE1 5 +NX_Q9H015 551 62155 6.85 12 Mitochondrion;Membrane Rheumatoid arthritis PE1 5 +NX_Q9H019 292 31957 5.77 0 Mitochondrion;Cytoplasm;Cell junction NA PE1 1 +NX_Q9H040 489 55134 8.38 0 Nucleoplasm;Nucleus;Chromosome Ruijs-Aalfs syndrome PE1 1 +NX_Q9H061 195 21527 9.36 4 Mitochondrion;Nucleus;Mitochondrion inner membrane;Cytosol Optic atrophy 7 with or without auditory neuropathy PE1 11 +NX_Q9H063 256 28771 4.47 0 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus NA PE1 8 +NX_Q9H069 523 61054 4.68 0 Cytoplasm;Flagellum axoneme;Cilium;Cilium axoneme NA PE1 17 +NX_Q9H074 479 53525 4.71 0 Cytosol;Cytoplasm;Cell membrane NA PE1 5 +NX_Q9H078 707 78729 9.13 0 Mitochondrion 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia PE1 11 +NX_Q9H079 304 34767 9.18 0 Spindle;Nucleus;Spindle pole;Midbody NA PE1 15 +NX_Q9H081 205 24140 5.5 0 Kinetochore;Nucleus NA PE1 17 +NX_Q9H082 229 25718 6.7 0 Golgi apparatus membrane;cis-Golgi network;Golgi apparatus Smith-McCort dysplasia 2 PE1 4 +NX_Q9H089 658 75225 5.96 0 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Cajal body NA PE1 3 +NX_Q9H091 742 81860 6.38 0 Cytosol;Nucleus speckle;Nucleus;Cytoplasm Spermatogenic failure 14 PE1 17 +NX_Q9H093 628 69612 9.01 0 Cytosol;Nucleolus;Nucleus NA PE1 1 +NX_Q9H094 633 72951 4.4 0 Cytoplasm NA PE2 1 +NX_Q9H095 443 51918 6.18 0 Flagellum axoneme;Flagellum;Cytosol;Cytoplasm;Cytoskeleton;Cilium NA PE1 3 +NX_Q9H098 131 15558 7.89 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 10 +NX_Q9H0A0 1025 115730 8.5 0 Nucleolus;Midbody NA PE1 11 +NX_Q9H0A3 160 17963 8.95 1 Membrane NA PE2 22 +NX_Q9H0A6 362 41516 9.15 0 Cytoplasm;Cell membrane NA PE1 7 +NX_Q9H0A8 199 21764 6.89 0 Cytoplasm;Nucleus;Cell membrane NA PE1 15 +NX_Q9H0A9 340 37613 7.05 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Cell membrane NA PE1 21 +NX_Q9H0B3 1180 127693 10.25 0 Mitochondrion NA PE1 19 +NX_Q9H0B6 622 68935 6.72 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Cytosol;Cell membrane Spastic paraplegia, optic atrophy, and neuropathy PE1 11 +NX_Q9H0B8 497 55920 8.36 0 Nucleolus;Nucleus;Golgi apparatus;Secreted NA PE1 16 +NX_Q9H0C1 365 41818 5.82 0 Cytoplasm;Nucleus NA PE1 1 +NX_Q9H0C2 315 35022 9.91 6 Mitochondrion;Flagellum;Mitochondrion inner membrane NA PE1 4 +NX_Q9H0C3 514 60185 8.67 8 Cytoskeleton;Nucleolus;Nucleus;Cell membrane;Endoplasmic reticulum NA PE1 12 +NX_Q9H0C5 482 52771 5.79 0 Cytoplasm NA PE1 15 +NX_Q9H0C8 392 42907 6.68 0 Nucleoplasm;Cytoplasm NA PE1 2 +NX_Q9H0D2 1346 145587 8.28 0 Cytosol;Nucleoplasm;Nucleus NA PE1 19 +NX_Q9H0D6 950 108582 7.26 0 Nucleolus;Nucleus NA PE1 20 +NX_Q9H0E2 274 30282 5.68 0 Cytosol;Cytoplasm;Endosome;Cell membrane NA PE1 11 +NX_Q9H0E3 1048 110324 9.83 0 Nucleus speckle;Nucleus NA PE1 2 +NX_Q9H0E7 712 81185 8.21 0 Cytoskeleton;Nucleolus;Nucleus NA PE1 12 +NX_Q9H0E9 1235 135336 4.52 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 5 +NX_Q9H0F5 515 57595 7.68 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q9H0F6 387 39949 5.53 0 Cytosol;Synapse;Nucleus NA PE1 8 +NX_Q9H0F7 186 21097 8.72 0 Cytoplasmic vesicle;Cilium membrane;Nucleoplasm;Cilium axoneme;Cilium basal body Retinitis pigmentosa 55;Bardet-Biedl syndrome 3 PE1 3 +NX_Q9H0G5 558 66390 8.9 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 17 +NX_Q9H0H0 1204 134323 5.72 1 Cytoplasm;Nucleus;Nucleus membrane NA PE1 17 +NX_Q9H0H3 589 65923 6.1 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 15 +NX_Q9H0H5 632 71027 9.08 0 Acrosome;Cleavage furrow;Nucleoplasm;Cytoplasm;Midbody ring;Nucleus envelope;Cell membrane;Nucleus;Spindle NA PE1 12 +NX_Q9H0H9 118 12413 9.49 0 NA NA PE5 2 +NX_Q9H0I2 346 38759 9.84 0 Cytosol;Cytoskeleton;Centrosome;Cell membrane NA PE1 16 +NX_Q9H0I3 377 44220 8.75 0 Cytosol;Cytoplasm;Centriolar satellite;Nucleus;Nucleoplasm NA PE1 16 +NX_Q9H0I9 626 67877 5.9 0 Cytoplasm NA PE1 4 +NX_Q9H0J4 1663 180827 6.25 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus membrane NA PE1 17 +NX_Q9H0J9 701 79064 8.84 0 Nucleus NA PE1 7 +NX_Q9H0K1 926 103915 5.7 0 Cytoplasm;Golgi apparatus NA PE1 11 +NX_Q9H0K4 717 80913 4.36 0 Cytoplasm;Nucleus NA PE1 19 +NX_Q9H0K6 701 80700 7.31 0 Nucleus speckle;Nucleus NA PE1 12 +NX_Q9H0L4 616 64437 6.79 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 10 +NX_Q9H0M0 922 105202 5.64 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Cell membrane NA PE1 8 +NX_Q9H0M4 648 72007 7.47 0 Golgi apparatus NA PE1 7 +NX_Q9H0M5 742 86232 9.15 0 Nucleus NA PE1 19 +NX_Q9H0N0 254 28355 7.58 0 Cytoplasm;Nucleus;Centrosome;Golgi apparatus NA PE1 2 +NX_Q9H0N5 130 14365 9.17 0 Cytoplasm;Nucleus;Cell membrane NA PE1 5 +NX_Q9H0P0 336 37948 6.67 0 Mitochondrion;Cytoplasm;Nucleus;Endoplasmic reticulum P5N deficiency PE1 7 +NX_Q9H0P7 198 20949 6.01 0 Cytoplasm NA PE5 6 +NX_Q9H0Q0 323 37313 5.71 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 2 +NX_Q9H0Q3 95 10542 5.05 1 Cytoplasmic vesicle;Membrane;Golgi apparatus;Cell membrane;Nucleus membrane NA PE1 11 +NX_Q9H0R1 490 54767 6.17 0 Cytosol;Lysosome membrane;Late endosome membrane NA PE1 14 +NX_Q9H0R3 208 23230 6.04 3 Cytosol;Cell membrane;Membrane NA PE1 1 +NX_Q9H0R4 259 28536 5.84 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 18 +NX_Q9H0R5 595 68114 6.11 0 Cytoplasm;Perinuclear region;Golgi apparatus membrane NA PE1 1 +NX_Q9H0R6 528 57460 5.47 0 Mitochondrion;Cytoplasmic vesicle;Centrosome NA PE1 6 +NX_Q9H0R8 117 14044 8.67 0 Golgi apparatus;Cytoplasm;Endoplasmic reticulum;Nucleus;Autophagosome;Cytoskeleton;Cytoplasmic vesicle membrane NA PE1 12 +NX_Q9H0S4 455 50647 9.18 0 Nucleolus;Nucleus NA PE1 12 +NX_Q9H0T7 212 23491 7.7 0 Cytoplasm;Recycling endosome membrane;Nucleus;Melanosome;Dendrite NA PE1 2 +NX_Q9H0U3 335 38037 9.68 4 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia PE1 X +NX_Q9H0U4 201 22171 5.55 0 Cytoplasm;Preautophagosomal structure membrane;Endoplasmic reticulum;Golgi apparatus;Membrane NA PE1 11 +NX_Q9H0U6 180 20577 9.63 0 Mitochondrion NA PE1 6 +NX_Q9H0U9 437 49192 5.36 0 Nucleolus;Nucleus Sudden infant death with dysgenesis of the testes syndrome PE1 6 +NX_Q9H0V1 697 79755 8.34 11 Golgi apparatus;Membrane NA PE1 7 +NX_Q9H0V9 348 39711 8.55 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum Mental retardation, autosomal recessive 52 PE1 2 +NX_Q9H0W5 538 59374 8.72 0 Cytosol;Cytoplasm;Nucleus;Centrosome;Cell membrane 3M syndrome 3 PE1 19 +NX_Q9H0W7 228 26260 10.17 0 Nucleoplasm;Golgi apparatus;Cell membrane NA PE1 12 +NX_Q9H0W8 520 57651 6.52 0 Mitochondrion;Cytosol;Nucleus;Cytoplasm Heart and brain malformation syndrome PE1 19 +NX_Q9H0W9 315 35117 6.23 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q9H0X4 552 59660 5.84 1 Nucleoplasm;Mitochondrion;Cell membrane;Membrane NA PE1 16 +NX_Q9H0X6 261 27964 7.45 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 9 +NX_Q9H0X9 879 98616 7.29 1 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Endoplasmic reticulum NA PE1 11 +NX_Q9H0Y0 220 25279 5.35 0 Cytoplasm;Nucleolus;Nucleus NA PE1 5 +NX_Q9H0Z9 239 25498 8.76 0 Cytosol;Nucleoplasm;Nucleus NA PE1 20 +NX_Q9H106 197 21687 9.56 0 Secreted NA PE1 20 +NX_Q9H112 138 16506 6.51 0 Secreted NA PE1 20 +NX_Q9H114 145 16989 9.84 0 Secreted NA PE2 20 +NX_Q9H115 298 33557 5.32 0 Membrane NA PE1 20 +NX_Q9H116 711 80492 8.11 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Joint laxity, short stature, and myopia PE1 20 +NX_Q9H147 329 37013 9.11 0 Nucleus NA PE1 20 +NX_Q9H156 845 95404 7.95 1 Cell membrane;Membrane NA PE1 X +NX_Q9H158 963 103942 5.05 1 Cytoplasmic vesicle;Nucleolus;Nucleus;Cell membrane NA PE2 5 +NX_Q9H159 772 87002 4.62 1 Cell membrane NA PE1 18 +NX_Q9H160 280 32808 8.17 0 Nucleoplasm;Cytosol;Nucleus;Golgi apparatus NA PE1 4 +NX_Q9H161 411 44241 8.56 0 Nucleoplasm;Nucleus Potocki-Shaffer syndrome;Parietal foramina 2;Frontonasal dysplasia 2;Craniosynostosis 5 PE1 11 +NX_Q9H165 835 91197 6.15 0 Nucleoplasm;Cytoplasm;Nucleus Intellectual developmental disorder with persistence of fetal hemoglobin PE1 2 +NX_Q9H169 189 22071 5.76 0 Axon;Cytoplasmic vesicle;Growth cone;Golgi apparatus NA PE1 8 +NX_Q9H171 429 46343 6.29 0 NA NA PE1 20 +NX_Q9H172 646 71896 8.49 6 Membrane NA PE1 11 +NX_Q9H173 461 52085 5.27 0 Endoplasmic reticulum lumen Marinesco-Sjoegren syndrome PE1 5 +NX_Q9H175 543 59591 4.68 0 Nucleus speckle;Nucleus NA PE1 12 +NX_Q9H190 292 31594 9.15 0 Nucleus speckle;Nucleolus;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleoplasm NA PE1 20 +NX_Q9H195 1237 131402 5.28 1 Membrane NA PE2 7 +NX_Q9H1A3 318 36536 6.96 0 Cytosol;Nucleus;Cell junction NA PE1 16 +NX_Q9H1A4 1944 216500 5.88 0 Cytoplasmic vesicle NA PE1 2 +NX_Q9H1A7 115 13092 5.88 0 Nucleus NA PE2 7 +NX_Q9H1B4 397 45628 9.1 0 Cytoplasm;Nucleus NA PE2 X +NX_Q9H1B5 865 96767 8.5 1 Cytosol;Nucleus;Golgi apparatus membrane;Secreted Spondyloocular syndrome;Pseudoxanthoma elasticum PE1 17 +NX_Q9H1B7 796 82659 8.56 0 Nucleoplasm;Nucleus NA PE1 14 +NX_Q9H1C0 372 41347 10.22 7 Cell membrane NA PE2 12 +NX_Q9H1C3 349 40026 6.57 1 Cytosol;Membrane NA PE1 12 +NX_Q9H1C4 597 66631 6.48 12 Endoplasmic reticulum membrane;Nucleoplasm;Endosome;Phagosome;Lysosome Encephalopathy, acute, infection-induced, Herpes-specific, 1 PE1 11 +NX_Q9H1C7 97 10631 4.2 1 Membrane NA PE1 5 +NX_Q9H1D0 765 87286 7.86 6 Cell membrane NA PE1 7 +NX_Q9H1D9 316 35684 5.79 0 Nucleus NA PE1 20 +NX_Q9H1E1 156 17419 9.76 0 Secreted NA PE1 14 +NX_Q9H1E3 243 27296 5 0 Nucleolus;Nucleus NA PE1 1 +NX_Q9H1E5 349 38952 4.31 1 Nucleus membrane;Membrane NA PE1 20 +NX_Q9H1F0 79 8943 8.8 0 Secreted NA PE2 20 +NX_Q9H1H1 148 16872 6.3 0 Nucleolus NA PE1 20 +NX_Q9H1H9 1805 202308 5.43 0 Endosome membrane;Golgi apparatus membrane;Centrosome;Midbody NA PE1 6 +NX_Q9H1I8 757 86360 5.02 0 Cytosol;Nucleus speckle;Focal adhesion;Nucleus NA PE1 22 +NX_Q9H1J1 476 54696 9.12 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol NA PE1 13 +NX_Q9H1J5 351 38849 8.1 0 Cytosol;Secreted;Cell membrane;Extracellular matrix NA PE1 5 +NX_Q9H1J7 359 40323 8.8 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 12 +NX_Q9H1K0 784 88870 5.36 0 Cytoplasmic vesicle;Early endosome membrane;Cell membrane NA PE1 3 +NX_Q9H1K1 167 17999 9.54 0 Mitochondrion;Cytoplasm;Nucleus;Cytosol Myopathy with exercise intolerance Swedish type PE1 12 +NX_Q9H1K4 315 33849 9.39 6 Mitochondrion inner membrane NA PE1 22 +NX_Q9H1K6 362 37758 8.54 0 Nucleoplasm;Cytosol NA PE1 15 +NX_Q9H1L0 117 12410 6.4 0 NA NA PE4 20 +NX_Q9H1M0 184 20837 4.41 0 NA NA PE1 X +NX_Q9H1M3 183 20299 9.04 0 Secreted NA PE1 20 +NX_Q9H1M4 99 11343 9.05 0 Secreted NA PE1 20 +NX_Q9H1N7 401 44593 9.34 10 Golgi apparatus membrane NA PE1 6 +NX_Q9H1P3 480 55201 5.94 0 Cytosol Deafness, autosomal dominant, 67 PE1 20 +NX_Q9H1P6 137 15719 8.72 0 NA NA PE1 20 +NX_Q9H1Q7 454 51782 6.41 0 Cytosol;Nucleoplasm NA PE1 20 +NX_Q9H1R2 295 31882 8.77 0 Cytosol;Cytoplasm;Cell membrane NA PE1 20 +NX_Q9H1R3 596 64685 6.6 0 Cytoplasm;Endoplasmic reticulum Cardiomyopathy, familial hypertrophic PE1 20 +NX_Q9H1U4 602 62984 5.45 1 Cytosol;Nucleus;Membrane NA PE1 9 +NX_Q9H1U9 297 33672 9.51 6 Mitochondrion inner membrane NA PE1 9 +NX_Q9H1V8 727 81001 5.68 12 Synaptic vesicle membrane;Nucleus;Golgi apparatus Mental retardation, autosomal recessive 48 PE1 1 +NX_Q9H1X1 276 31292 5.28 0 Cilium axoneme Ciliary dyskinesia, primary, 12 PE1 6 +NX_Q9H1X3 360 42404 9.2 3 Nucleoplasm;Cytosol;Membrane NA PE1 9 +NX_Q9H1Y0 275 32447 5.48 0 Cytoplasm;Preautophagosomal structure membrane;Centrosome Spinocerebellar ataxia, autosomal recessive, 25 PE1 6 +NX_Q9H1Y3 402 44873 9.3 7 Nucleoplasm;Membrane NA PE1 1 +NX_Q9H1Z4 485 53696 9.33 0 Nucleoplasm;Nucleus;Cell membrane;Microtubule organizing center NA PE1 X +NX_Q9H1Z8 148 17183 8.57 0 Secretory vesicle;Secreted NA PE1 2 +NX_Q9H1Z9 355 36498 5.57 3 Membrane NA PE1 17 +NX_Q9H201 632 68222 5.64 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Perinuclear region;Nucleus;Clathrin-coated vesicle NA PE1 17 +NX_Q9H204 178 19520 5.39 0 Nucleoplasm;Cytoplasm;Nucleus;Membrane NA PE1 4 +NX_Q9H205 316 35270 8.38 7 Cell membrane NA PE1 11 +NX_Q9H207 317 35519 9.06 7 Cell membrane NA PE2 11 +NX_Q9H208 303 33817 9.12 7 Cell membrane NA PE2 11 +NX_Q9H209 315 35117 7.56 7 Cell membrane NA PE2 11 +NX_Q9H210 308 34172 9.31 7 Cell membrane NA PE2 11 +NX_Q9H211 546 60390 9.82 0 Kinetochore;Nucleus Meier-Gorlin syndrome 4 PE1 16 +NX_Q9H213 219 24441 9.05 0 Nucleolus NA PE1 X +NX_Q9H221 673 75679 8.52 6 Cytoplasmic vesicle;Apical cell membrane;Cell membrane Gallbladder disease 4;Sitosterolemia PE1 2 +NX_Q9H222 651 72504 9.15 6 Apical cell membrane;Nucleus;Cell membrane Sitosterolemia PE1 2 +NX_Q9H223 541 61175 6.33 0 Early endosome membrane;Recycling endosome membrane;Cell membrane NA PE1 15 +NX_Q9H227 469 53696 5.39 0 Cytosol NA PE1 4 +NX_Q9H228 398 41775 9.86 7 Cell membrane NA PE1 19 +NX_Q9H237 461 52318 9.08 8 Cytoplasmic vesicle;Endoplasmic reticulum membrane Focal dermal hypoplasia PE1 X +NX_Q9H239 520 58939 9.7 0 Extracellular matrix NA PE1 17 +NX_Q9H244 342 39439 9.6 7 Cell membrane Bleeding disorder, platelet-type 8 PE1 3 +NX_Q9H246 121 13865 5.17 0 Cytosol;Nucleoplasm NA PE1 1 +NX_Q9H251 3354 369494 4.5 1 Cell membrane Pituitary adenoma 5, multiple types;Usher syndrome 1D;Usher syndrome 1D/F;Deafness, autosomal recessive, 12 PE1 10 +NX_Q9H252 994 109925 6.55 6 Membrane NA PE1 17 +NX_Q9H254 2564 288985 5.72 0 Nucleus;Cytoskeleton;Nucleolus;Cell cortex Myopathy, congenital, with neuropathy and deafness PE1 19 +NX_Q9H255 320 35493 9.16 7 Cell membrane NA PE2 11 +NX_Q9H257 536 62241 5.79 0 Cytoplasm Candidiasis, familial, 2 PE1 9 +NX_Q9H267 617 70585 6.29 0 Lysosome membrane;Late endosome membrane;Clathrin-coated vesicle;Recycling endosome;Early endosome Arthrogryposis, renal dysfunction and cholestasis syndrome 1 PE1 15 +NX_Q9H269 839 94694 6.32 0 Lysosome membrane;Late endosome membrane;Clathrin-coated vesicle;Autophagosome;Early endosome NA PE1 20 +NX_Q9H270 941 107837 6.6 0 Endosome;Lysosome membrane;Cytosol;Cytoplasmic vesicle;Late endosome membrane;Autophagosome;Early endosome;Clathrin-coated vesicle Leukodystrophy, hypomyelinating, 12 PE1 11 +NX_Q9H293 177 20330 8.73 0 Secreted NA PE1 14 +NX_Q9H295 470 53393 9.41 6 Endoplasmic reticulum membrane;Endosome;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cell membrane NA PE1 8 +NX_Q9H299 93 10438 4.82 0 Cytoplasm;Nucleus NA PE1 1 +NX_Q9H2A2 487 53401 6.76 0 Cytoplasm;Centrosome NA PE1 6 +NX_Q9H2A3 272 28621 7.65 0 Nucleus NA PE2 4 +NX_Q9H2A7 254 27579 9.06 1 Cytoplasmic vesicle;Cell membrane;Golgi apparatus;Secreted NA PE1 17 +NX_Q9H2A9 424 48834 10.18 1 Golgi apparatus membrane Peeling skin syndrome 3 PE1 19 +NX_Q9H2B2 425 47958 8.72 1 Cytoplasmic vesicle;Synaptic vesicle membrane;Cell membrane NA PE1 18 +NX_Q9H2B4 701 75016 8.47 9 Cytoskeleton;Basolateral cell membrane;Cell membrane Nephrolithiasis, calcium oxalate PE1 4 +NX_Q9H2C0 597 67638 5.58 0 Cytoplasm;Cytoskeleton Giant axonal neuropathy 1, autosomal recessive PE1 16 +NX_Q9H2C1 402 44406 7.87 0 Nucleus NA PE1 12 +NX_Q9H2C2 271 31052 8.59 3 Endoplasmic reticulum membrane;Cytoplasmic vesicle Epileptic encephalopathy, early infantile, 38 PE1 1 +NX_Q9H2C5 316 35955 9.02 7 Cell membrane NA PE3 11 +NX_Q9H2C8 321 36749 8.95 7 Cell membrane NA PE3 11 +NX_Q9H2D1 315 35407 9.49 6 Mitochondrion;Mitochondrion inner membrane Exercise intolerance, riboflavin-responsive PE1 8 +NX_Q9H2D6 2365 261376 8.86 0 Cytoskeleton;Nucleus;Midbody;Centrosome Deafness, autosomal recessive, 28 PE1 22 +NX_Q9H2E6 1030 114395 8.68 1 Cytoskeleton;Nucleus;Cell membrane NA PE1 5 +NX_Q9H2F3 369 41016 8.48 2 Endoplasmic reticulum membrane;Lipid droplet Congenital bile acid synthesis defect 1 PE1 16 +NX_Q9H2F5 836 93463 8.77 0 Nucleus NA PE1 10 +NX_Q9H2F9 335 38869 8.78 0 Centriole;Cytosol;Golgi apparatus NA PE1 18 +NX_Q9H2G2 1235 142695 5.08 0 Cytosol;Cytoplasm;Cell membrane NA PE1 10 +NX_Q9H2G4 693 79435 4.45 0 Cytoplasm;Nucleus NA PE1 X +NX_Q9H2G9 400 44910 8.74 0 Cytoplasm;Nucleus;Golgi apparatus;Golgi apparatus membrane NA PE1 1 +NX_Q9H2H0 198 20978 9.39 0 Cytoplasm NA PE1 4 +NX_Q9H2H8 161 18155 6.29 0 Nucleus NA PE1 2 +NX_Q9H2H9 487 54048 6.6 11 Cell membrane NA PE1 12 +NX_Q9H2I8 198 22568 6.23 0 Cytosol;Nucleus Albinism, oculocutaneous, 7 PE1 10 +NX_Q9H2J1 176 18048 7.75 0 NA NA PE2 9 +NX_Q9H2J4 239 27614 4.78 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q9H2J7 730 81836 5.06 12 Cytoplasmic vesicle;Nucleolus;Membrane NA PE1 12 +NX_Q9H2K0 278 31725 9.7 0 Mitochondrion;Nucleoplasm NA PE1 13 +NX_Q9H2K2 1166 126918 6.76 0 Cytoplasm;Cytoskeleton;Nucleus;Golgi apparatus membrane;Telomere NA PE1 10 +NX_Q9H2K8 898 105406 6.83 0 Mitochondrion;Cytoplasm;Cell membrane NA PE1 12 +NX_Q9H2L4 133 15500 9.62 4 Membrane NA PE2 7 +NX_Q9H2L5 321 36748 7.66 0 Nucleolus;Nucleus;Cell junction NA PE1 10 +NX_Q9H2M3 363 40354 5.61 0 NA NA PE1 5 +NX_Q9H2M9 1393 155985 5.4 0 Cytosol;Cytoplasm;Cell membrane Warburg micro syndrome 2;Martsolf syndrome PE1 1 +NX_Q9H2P0 1102 123563 6.97 0 Nucleoplasm;Nucleus Helsmoortel-van der Aa syndrome PE1 20 +NX_Q9H2P9 285 31651 5.19 0 Golgi apparatus NA PE1 1 +NX_Q9H2Q1 129 14539 8.65 2 Endoplasmic reticulum;Golgi apparatus;Membrane NA PE2 11 +NX_Q9H2R5 256 28087 8.27 0 Secreted NA PE1 19 +NX_Q9H2S1 579 63760 9.58 6 Nucleoplasm;Cytosol;Membrane NA PE1 5 +NX_Q9H2S5 420 45525 8.69 0 Cytoplasmic vesicle;Cytoplasm;Centrosome;Cell membrane NA PE1 6 +NX_Q9H2S6 317 37130 5.12 1 Cytoplasm;Nucleus envelope;Membrane NA PE1 X +NX_Q9H2S9 585 64106 6.39 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q9H2T7 1088 124375 6.02 0 Cytosol;Cytoplasm;Nuclear pore complex;Nucleus;Nucleus membrane NA PE1 5 +NX_Q9H2U1 1008 114760 7.58 0 Nucleus speckle;Perikaryon;Dendrite;Cytosol;Cytoplasm;Telomere;Axon;Stress granule;Nucleus;Mitochondrion NA PE1 3 +NX_Q9H2U2 334 37920 7.07 0 Mitochondrion;Nucleus Sudden cardiac failure, infantile;Sudden cardiac failure, alcohol-induced PE1 4 +NX_Q9H2U6 94 11474 7.64 0 NA NA PE5 15 +NX_Q9H2U9 754 85669 6.08 1 Membrane NA PE1 8 +NX_Q9H2V7 528 56630 6.19 12 Endosome;Nucleolus;Golgi apparatus;Cytosol;Endoplasmic reticulum;Cytoplasmic vesicle;Mitochondrion inner membrane NA PE1 16 +NX_Q9H2W1 248 26943 6.57 4 Membrane NA PE1 11 +NX_Q9H2W2 232 24659 9.04 0 Nucleus NA PE1 1 +NX_Q9H2W6 279 31705 6.55 0 Mitochondrion;Nucleoplasm;Cell junction NA PE1 15 +NX_Q9H2X0 955 102032 8.07 0 Secreted NA PE1 3 +NX_Q9H2X3 399 45350 5.12 1 Cell membrane;Secreted NA PE1 19 +NX_Q9H2X6 1198 130966 8.69 0 Cytoplasm;Nucleus;PML body NA PE1 7 +NX_Q9H2X8 130 12410 5.36 3 Cytosol;Nucleolus;Mitochondrion membrane NA PE1 14 +NX_Q9H2X9 1139 126184 6.29 12 Membrane Epilepsy, idiopathic generalized 14;Epileptic encephalopathy, early infantile, 34 PE1 20 +NX_Q9H2Y7 1883 208883 6.73 0 Cytosol;Nucleus speckle;Nucleolus;Nucleus NA PE1 15 +NX_Q9H2Y9 848 91864 7.96 12 Cell membrane NA PE2 8 +NX_Q9H2Z4 354 36179 9.6 0 Nucleus NA PE1 20 +NX_Q9H300 379 42190 9.82 7 Mitochondrion;Mitochondrion inner membrane;Nucleus NA PE1 3 +NX_Q9H305 208 21892 5.55 0 Nucleoplasm;Late endosome membrane;Lysosome membrane;Centrosome NA PE1 16 +NX_Q9H306 513 59026 8.83 0 Endoplasmic reticulum membrane NA PE1 11 +NX_Q9H307 717 81628 6.71 0 Nucleus speckle;Desmosome NA PE1 14 +NX_Q9H310 441 47231 8.74 12 Nucleoplasm;Cytoplasmic vesicle membrane;Basolateral cell membrane NA PE1 1 +NX_Q9H313 450 49051 4.88 5 Cell membrane NA PE1 19 +NX_Q9H320 206 22289 4.37 0 NA NA PE2 X +NX_Q9H321 246 26878 4.2 0 NA NA PE2 X +NX_Q9H322 139 14661 6.18 0 NA NA PE2 X +NX_Q9H324 1103 120874 8.34 0 Cytosol;Extracellular matrix Weill-Marchesani syndrome 1 PE1 19 +NX_Q9H329 900 99712 9.17 0 Cytosol;Cytoplasm;Tight junction;Cell membrane NA PE1 9 +NX_Q9H330 879 97357 9.04 14 Cytosol;Cell membrane;Membrane NA PE1 9 +NX_Q9H334 677 75317 6.2 0 Nucleoplasm;Nucleus Mental retardation with language impairment and autistic features PE1 3 +NX_Q9H336 500 56888 8.47 0 Secreted NA PE1 8 +NX_Q9H339 312 35241 8.59 7 Cell membrane NA PE2 11 +NX_Q9H340 312 35269 9.26 7 Cell membrane NA PE3 11 +NX_Q9H341 326 36669 9.1 7 Cell membrane NA PE3 11 +NX_Q9H342 316 34838 8.5 7 Cell membrane NA PE3 11 +NX_Q9H343 314 35484 9.22 7 Cell membrane NA PE2 11 +NX_Q9H344 312 35002 8.98 7 Cell membrane NA PE2 11 +NX_Q9H346 318 35122 8.57 7 Cell membrane NA PE2 11 +NX_Q9H347 655 70841 5.01 0 NA NA PE1 11 +NX_Q9H354 126 14747 10.34 1 Membrane NA PE5 10 +NX_Q9H361 631 70031 9.68 0 Cytoplasm NA PE1 13 +NX_Q9H379 93 10324 7.47 0 NA NA PE5 9 +NX_Q9H3C7 697 79086 5.97 0 Cytoplasmic vesicle;Endoplasmic reticulum NA PE1 17 +NX_Q9H3D4 680 76785 6.12 0 Nucleoplasm;Cytosol;Nucleus;Golgi apparatus Ectodermal dysplasia, Rapp-Hodgkin type;Acro-dermato-ungual-lacrimal-tooth syndrome;Split-hand/foot malformation 4;Non-syndromic orofacial cleft 8;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3;Limb-mammary syndrome;Ankyloblepharon-ectodermal defects-cleft lip/palate PE1 3 +NX_Q9H3E2 840 97945 5.99 0 Cytoplasmic vesicle;Endosome membrane NA PE1 4 +NX_Q9H3F6 313 35432 5.97 0 Nucleoplasm;Cytosol;Nucleus NA PE1 12 +NX_Q9H3G5 476 54164 5.39 0 Endoplasmic reticulum NA PE1 7 +NX_Q9H3H1 467 52725 8.35 0 Nucleoplasm;Mitochondrion;Cytosol;Cytoplasm Combined oxidative phosphorylation deficiency 35 PE1 1 +NX_Q9H3H3 292 31430 5.92 0 Nucleolus;Nucleus NA PE1 11 +NX_Q9H3H5 408 46090 8.25 10 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1J;Myasthenic syndrome, congenital, 13 PE1 11 +NX_Q9H3H9 227 25850 5.79 0 Cytosol;Nucleus speckle;Nucleus NA PE1 X +NX_Q9H3J6 166 18828 9.82 0 Mitochondrion;Cytosol;Nucleus Combined oxidative phosphorylation deficiency 7;Spastic paraplegia 55, autosomal recessive PE1 12 +NX_Q9H3K2 345 37205 9.95 7 Mitochondrion;Mitochondrion inner membrane NA PE1 10 +NX_Q9H3K6 86 10117 6.07 0 Cytoplasm;Nucleus NA PE1 16 +NX_Q9H3L0 296 32940 5.16 0 Mitochondrion;Cytoplasm Methylmalonic aciduria and homocystinuria, cblD type PE1 2 +NX_Q9H3M0 494 55584 5.9 6 Golgi apparatus;Membrane NA PE1 2 +NX_Q9H3M7 391 43661 7.46 0 Cytosol;Cytoplasm;Cell membrane NA PE1 1 +NX_Q9H3M9 355 40747 4.87 0 Nucleus NA PE1 X +NX_Q9H3N1 280 31791 4.91 1 Endoplasmic reticulum membrane;Nucleolus;Endoplasmic reticulum;Membrane NA PE1 14 +NX_Q9H3N8 390 44496 9.62 7 Cell membrane NA PE1 18 +NX_Q9H3P2 528 57277 9.1 0 Cytosol;Nucleoplasm;Nucleus NA PE1 4 +NX_Q9H3P7 528 60593 5.02 0 Mitochondrion;Golgi apparatus membrane;Golgi apparatus NA PE1 1 +NX_Q9H3Q1 356 37980 5.05 0 Cytoskeleton;Cell membrane;Endomembrane system NA PE1 17 +NX_Q9H3Q3 398 46110 10.03 1 Golgi stack membrane NA PE1 2 +NX_Q9H3R0 1056 119982 6.06 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q9H3R1 872 100716 7.19 1 Golgi apparatus membrane NA PE1 4 +NX_Q9H3R2 512 54604 4.91 1 Apical cell membrane;Cell membrane;Secreted NA PE1 3 +NX_Q9H3R5 247 28481 5.23 0 Kinetochore;Nucleolus;Nucleus NA PE1 5 +NX_Q9H3S1 761 83574 6.38 1 Nucleus;Cell membrane Retinitis pigmentosa 35;Cone-rod dystrophy 10 PE1 1 +NX_Q9H3S3 457 49560 6.24 1 Nucleoplasm;Cell membrane NA PE1 11 +NX_Q9H3S4 243 27265 5.03 0 Cytoplasmic vesicle Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type PE1 7 +NX_Q9H3S5 423 49460 9.26 10 Endoplasmic reticulum membrane Glycosylphosphatidylinositol deficiency PE1 1 +NX_Q9H3S7 1636 178974 6.45 0 Endosome;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Early endosome;Cilium basal body NA PE1 3 +NX_Q9H3T2 930 99686 8.36 1 Cytosol;Nucleoplasm;Nucleolus;Cell membrane NA PE1 1 +NX_Q9H3T3 888 95285 8.83 1 Cell membrane NA PE1 19 +NX_Q9H3U1 944 103077 5.8 0 Cytosol;Cytoplasm;Perinuclear region;Nucleus;Nucleus speckle NA PE1 15 +NX_Q9H3U5 465 51209 6.32 11 Nucleolus;Nucleus;Endoplasmic reticulum;Membrane NA PE1 3 +NX_Q9H3U7 446 49674 8.8 0 Basement membrane Dentin dysplasia 1 PE1 6 +NX_Q9H3V2 200 22283 6.27 4 Membrane NA PE2 11 +NX_Q9H3W5 708 79424 8.02 1 Cytosol;Nucleus;Membrane NA PE2 7 +NX_Q9H3Y0 253 28605 9.25 0 Secreted NA PE2 20 +NX_Q9H3Y6 488 54507 8.51 0 Cytosol;Cytoplasm;Cytoskeleton NA PE1 20 +NX_Q9H3Y8 114 11777 6.89 0 Nucleoplasm;Cytoskeleton;Nucleolus NA PE1 20 +NX_Q9H3Z4 198 22149 4.93 0 Melanosome;Golgi apparatus;Cell membrane;Membrane Ceroid lipofuscinosis, neuronal, 4B PE1 20 +NX_Q9H3Z7 469 52555 8.9 0 Nucleoplasm NA PE1 20 +NX_Q9H400 295 31288 9.7 1 Cell membrane NA PE1 20 +NX_Q9H410 356 40067 6.57 0 Cytosol;Kinetochore;Nucleolus;Nucleus NA PE1 20 +NX_Q9H422 1215 133743 7.16 0 Cytosol;Cytoplasm;Nucleus NA PE1 11 +NX_Q9H425 327 36346 5.6 0 Cytosol;Cytoplasm NA PE1 1 +NX_Q9H426 269 29329 5.65 0 Nucleoplasm;Synapse NA PE1 20 +NX_Q9H427 330 36130 9.89 4 Membrane NA PE1 20 +NX_Q9H444 224 24950 4.76 0 Cytosol;Late endosome membrane;Nucleus envelope;Midbody Cataract 31, multiple types PE1 20 +NX_Q9H446 243 27940 4.11 0 NA NA PE1 6 +NX_Q9H461 694 73300 8.58 7 Endoplasmic reticulum;Golgi apparatus;Cell membrane;Membrane NA PE1 10 +NX_Q9H467 287 32009 4.74 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 10 +NX_Q9H469 300 32998 7.13 0 Cytoplasm NA PE1 10 +NX_Q9H477 322 34143 4.94 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q9H478 68 7384 9.59 0 NA NA PE2 11 +NX_Q9H479 309 35171 7.13 0 Mitochondrion NA PE1 17 +NX_Q9H488 388 43956 8.77 0 Centrosome;Endoplasmic reticulum Dowling-Degos disease 2 PE1 20 +NX_Q9H489 355 39573 8.24 0 NA NA PE5 20 +NX_Q9H490 435 50052 7.59 9 Cytosol;Nucleoplasm;Endoplasmic reticulum membrane NA PE1 20 +NX_Q9H492 121 14272 8.73 0 Autophagosome membrane;Cytoskeleton;Autophagosome;Endomembrane system NA PE1 20 +NX_Q9H496 131 15348 6.88 0 NA NA PE1 1 +NX_Q9H497 397 46199 5.67 0 Cytoplasm;Endoplasmic reticulum lumen NA PE1 1 +NX_Q9H4A3 2382 250794 5.94 0 Cytosol;Cytoplasm Neuropathy, hereditary sensory and autonomic, 2A;Pseudohypoaldosteronism 2C PE1 12 +NX_Q9H4A4 650 72596 5.51 0 Nucleoplasm;Golgi apparatus;Secreted NA PE1 1 +NX_Q9H4A5 285 32767 5.62 0 Cytosol;Golgi stack membrane;trans-Golgi network membrane;Cell membrane;Nucleoplasm NA PE1 1 +NX_Q9H4A6 298 33811 6.05 0 Golgi stack membrane;Endosome;trans-Golgi network membrane;Golgi apparatus;Cell membrane;Cytoplasmic vesicle;Mitochondrion intermembrane space NA PE1 5 +NX_Q9H4A9 486 53365 6.08 0 Membrane NA PE1 16 +NX_Q9H4B0 414 45123 8.83 0 Mitochondrion NA PE1 2 +NX_Q9H4B4 646 71629 9.28 0 Cytoplasm;Nucleolus;Nucleus;Centrosome;Golgi apparatus NA PE1 1 +NX_Q9H4B6 383 44634 9.12 0 Cytosol;Cytoplasm;Nucleus NA PE1 14 +NX_Q9H4B7 451 50327 5.05 0 Cytoplasm;Cytoskeleton Macrothrombocytopenia, autosomal dominant, TUBB1-related PE1 20 +NX_Q9H4B8 488 53687 8.11 0 Membrane NA PE1 16 +NX_Q9H4D0 955 107006 5.21 1 Endoplasmic reticulum membrane;Nucleus membrane;Nucleoplasm;Cell membrane;Golgi apparatus membrane;Cell junction NA PE1 3 +NX_Q9H4D5 531 60102 6.29 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 X +NX_Q9H4E5 214 23821 6.37 0 Nucleolus;Nucleus;Cell membrane NA PE1 14 +NX_Q9H4E7 631 73910 5.78 0 Nucleoplasm;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Filopodium;Cytoskeleton NA PE1 6 +NX_Q9H4F1 302 34201 8.9 1 Golgi apparatus membrane;Nucleus;Golgi apparatus NA PE1 9 +NX_Q9H4F8 434 48163 8.59 0 Basement membrane;Cell membrane Ophthalmoacromelic syndrome PE1 14 +NX_Q9H4G0 881 98503 5.43 0 Cytoskeleton;Cell membrane Mental retardation, autosomal dominant 11 PE1 20 +NX_Q9H4G1 147 17276 5.93 0 Secreted NA PE1 20 +NX_Q9H4G4 154 17218 9.44 0 Cytoplasmic vesicle;Cytoskeleton;Golgi apparatus membrane NA PE1 9 +NX_Q9H4G8 78 8721 3.96 0 NA NA PE5 20 +NX_Q9H4H8 585 64424 6.1 0 Cytoplasm;Spindle;Spindle pole NA PE1 20 +NX_Q9H4I0 556 63324 5.07 0 Nucleus;Chromosome NA PE1 20 +NX_Q9H4I2 956 104658 5.73 0 Nucleoplasm;Nucleus NA PE1 20 +NX_Q9H4I3 376 42321 8.15 0 Mitochondrion;Nucleus NA PE1 22 +NX_Q9H4I8 314 35369 6.3 0 Perinuclear region;Peroxisome NA PE1 22 +NX_Q9H4I9 107 11441 6.56 1 Mitochondrion;Nucleus;Mitochondrion inner membrane NA PE1 22 +NX_Q9H4K1 309 37060 9.57 0 NA NA PE1 22 +NX_Q9H4K7 406 43955 9.52 0 Mitochondrion;Mitochondrion inner membrane NA PE1 20 +NX_Q9H4L4 574 65010 8.82 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA PE1 17 +NX_Q9H4L5 887 101224 6.42 0 Endoplasmic reticulum membrane;Nucleolus;Nucleus membrane;Cytosol;Filopodium tip;Cell membrane NA PE1 7 +NX_Q9H4L7 1026 117402 5.39 0 Nucleoplasm;Nucleus;Chromosome Basan syndrome;Adermatoglyphia PE1 4 +NX_Q9H4M3 255 29747 5.52 0 Nucleoplasm NA PE1 1 +NX_Q9H4M7 779 85401 10.57 0 Cytosol;Cytoplasm;Cell membrane;Membrane;Cytoskeleton;Centrosome NA PE1 19 +NX_Q9H4M9 534 60627 6.35 0 Cilium membrane;Early endosome membrane;Recycling endosome membrane;Cell membrane NA PE1 11 +NX_Q9H4P4 317 35905 5.75 0 Nucleus;Midbody ring NA PE1 12 +NX_Q9H4Q3 707 73981 9 0 Nucleus NA PE2 6 +NX_Q9H4Q4 367 40403 8.58 0 Nucleus Neuropathy, hereditary sensory and autonomic, 8 PE1 9 +NX_Q9H4R4 102 11336 6.96 0 NA NA PE5 20 +NX_Q9H4S2 264 27883 9.17 0 Nucleus NA PE2 13 +NX_Q9H4T2 348 40792 8.36 0 Nucleus NA PE1 6 +NX_Q9H4W6 596 64864 8.91 0 Nucleus Hypotonia, ataxia, and delayed development syndrome PE1 10 +NX_Q9H4X1 137 14559 4.59 0 Cytoplasm;Nucleolus;Nucleus;Centrosome NA PE1 13 +NX_Q9H4Y5 243 28254 7.51 0 Nucleolus;Nucleus NA PE1 10 +NX_Q9H4Z2 1342 144893 5.97 0 Nucleoplasm;Nucleus Microcephaly 10, primary, autosomal recessive PE1 20 +NX_Q9H4Z3 704 80670 7.09 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 20 +NX_Q9H501 851 98796 5.01 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 20 +NX_Q9H503 90 10309 5.5 0 Cytoplasm;Nucleus NA PE1 20 +NX_Q9H511 634 70246 6.3 0 Nucleus NA PE1 6 +NX_Q9H521 79 9322 4.71 0 NA NA PE5 13 +NX_Q9H553 416 47092 6.61 1 Cytosol;Cytoskeleton;Membrane Myasthenic syndrome, congenital, 14;Congenital disorder of glycosylation 1I PE1 9 +NX_Q9H560 264 30436 9.15 0 NA NA PE5 9 +NX_Q9H568 366 41360 5.78 0 Cytosol;Cytoskeleton NA PE1 1 +NX_Q9H579 483 54816 5.96 0 Nucleus NA PE1 20 +NX_Q9H582 1327 149565 8.43 0 Cytoplasmic vesicle;Nucleus Myopia 21, autosomal dominant PE1 1 +NX_Q9H583 2144 242370 6.11 0 Mitochondrion;Nucleolus NA PE1 1 +NX_Q9H596 190 21529 8.95 0 Mitochondrion inner membrane;Cytoplasm;Nucleus NA PE1 X +NX_Q9H598 525 57415 6.19 10 Cytoplasmic vesicle membrane NA PE1 20 +NX_Q9H5F2 150 17785 8.68 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q9H5H4 540 60229 8.27 0 Cytoplasmic vesicle;Nucleus NA PE1 16 +NX_Q9H5I1 410 46682 8.55 0 Mitochondrion;Centromere;Nucleus NA PE1 10 +NX_Q9H5I5 2752 318064 5.82 37 Cytoplasmic vesicle;Membrane Arthrogryposis, distal, 3;Arthrogryposis, distal, 5;Arthrogryposis, distal, with impaired proprioception and touch;Marden-Walker syndrome PE1 18 +NX_Q9H5J0 574 61827 5.4 0 Mitochondrion;Nucleus NA PE1 11 +NX_Q9H5J4 265 31376 9.42 7 Endoplasmic reticulum membrane NA PE1 4 +NX_Q9H5J8 278 32058 8.8 0 Nucleoplasm;Nucleus;Microtubule organizing center NA PE1 11 +NX_Q9H5K3 350 40050 5.68 1 Endoplasmic reticulum membrane;Cytosol;Nucleus Muscular dystrophy-dystroglycanopathy limb-girdle C12;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 PE1 8 +NX_Q9H5L6 903 103411 9.26 0 Mitochondrion NA PE1 4 +NX_Q9H5L9 145 15570 8.9 0 NA NA PE5 5 +NX_Q9H5N1 569 63543 4.76 0 Cytosol;Cytoplasmic vesicle;Cytoplasm;Early endosome NA PE1 16 +NX_Q9H5P4 1033 111752 9.74 0 Stereocilium;Nucleus;Cilium Usher syndrome 2A;Usher syndrome 2C;Deafness, autosomal recessive, 57 PE1 10 +NX_Q9H5Q4 396 45349 9.3 0 Mitochondrion NA PE1 1 +NX_Q9H5U6 513 59010 9.06 0 Nucleus speckle;Golgi apparatus NA PE1 4 +NX_Q9H5V7 419 46510 7.09 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA PE1 10 +NX_Q9H5V8 836 92932 8.28 1 Cell membrane;Secreted NA PE1 3 +NX_Q9H5V9 222 25625 8.94 0 Cytoplasm;Nucleus;Centrosome Mental retardation, X-linked 107 PE1 X +NX_Q9H5X1 160 18355 4.88 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 15 +NX_Q9H5Y7 841 95110 6.07 1 Cell membrane;Endoplasmic reticulum Deafness and myopia PE1 13 +NX_Q9H5Z1 703 78910 8.81 0 Nucleus;Centrosome NA PE1 20 +NX_Q9H5Z6 455 50961 6.86 0 Mitochondrion;Nucleoplasm;Nucleus NA PE1 2 +NX_Q9H606 182 19976 10.13 0 NA NA PE2 Y +NX_Q9H607 264 29404 10.01 0 Golgi apparatus NA PE2 19 +NX_Q9H609 170 18890 8.79 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 19 +NX_Q9H611 641 69799 9.81 0 Mitochondrion;Nucleoplasm;Nucleus NA PE1 15 +NX_Q9H628 205 23855 9.56 0 Nucleoplasm NA PE2 12 +NX_Q9H633 154 17570 9.64 0 Nucleolus NA PE1 6 +NX_Q9H649 340 38244 9.09 0 Mitochondrion matrix;Nucleoplasm;Nucleus membrane NA PE1 3 +NX_Q9H665 355 37895 6.7 1 Focal adhesion;Cell membrane NA PE1 19 +NX_Q9H668 368 42119 5.72 0 Nucleus;Telomere Cerebroretinal microangiopathy with calcifications and cysts 2 PE1 10 +NX_Q9H672 318 36011 8.57 0 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA PE1 15 +NX_Q9H693 158 16793 9.83 0 Endoplasmic reticulum NA PE1 16 +NX_Q9H694 974 104844 8.75 0 Nucleoplasm;Cytoplasm Renal dysplasia, cystic PE1 10 +NX_Q9H6A0 471 53672 7.55 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 1 +NX_Q9H6A9 2034 222039 6.19 13 Cytosol;Membrane NA PE1 11 +NX_Q9H6B1 395 42296 10.04 0 Nucleus NA PE1 3 +NX_Q9H6B4 373 41281 8.11 1 Tight junction;Cell membrane Congenital short bowel syndrome PE1 11 +NX_Q9H6B9 360 40909 7.67 1 Microsome membrane NA PE1 19 +NX_Q9H6D3 395 44655 7.62 8 Golgi apparatus;Cell membrane;Endoplasmic reticulum NA PE1 1 +NX_Q9H6D7 363 42400 5.52 0 Spindle;Focal adhesion;Centrosome;Cell membrane NA PE1 14 +NX_Q9H6D8 234 25159 8.39 1 Nucleoplasm;Cytosol;Secreted;Membrane NA PE2 2 +NX_Q9H6E4 229 26561 8.89 0 Cytoplasm;Nucleus;Endoplasmic reticulum;Secreted NA PE1 22 +NX_Q9H6E5 874 93847 5.8 0 Cytosol;Nucleus speckle;Nucleolus;Nucleus NA PE1 11 +NX_Q9H6F2 299 33260 8.56 7 Nucleus;Nucleus membrane;Sarcoplasmic reticulum membrane NA PE1 19 +NX_Q9H6F5 360 40236 10.33 0 Nucleolus;Nucleus NA PE1 11 +NX_Q9H6H4 257 29395 9.74 2 Cytosol;Endoplasmic reticulum membrane NA PE1 8 +NX_Q9H6I2 414 44117 6 0 Nucleoplasm;Nucleus Vesicoureteral reflux 3 PE1 8 +NX_Q9H6J7 331 37353 5.16 0 Cytoplasm;Nucleus;Nucleus speckle NA PE1 11 +NX_Q9H6K1 298 32872 4.43 0 Nucleus speckle;Nucleus NA PE1 6 +NX_Q9H6K4 179 19996 9.07 0 Mitochondrion;Cytosol;Nucleoplasm Optic atrophy 3;3-methylglutaconic aciduria 3 PE1 19 +NX_Q9H6K5 1346 132748 10.48 0 Nucleus;Golgi apparatus NA PE1 19 +NX_Q9H6L2 316 36059 7.76 2 Cytoplasmic vesicle;Cilium membrane Meckel syndrome 11;Joubert syndrome 20 PE1 16 +NX_Q9H6L4 198 21924 5.73 0 Cytosol NA PE1 17 +NX_Q9H6L5 497 54681 4.53 4 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum Neuropathy, hereditary sensory and autonomic, 2B PE1 5 +NX_Q9H6N6 1097 128290 5.4 0 NA NA PE1 7 +NX_Q9H6P5 420 44455 7.89 0 Cell membrane NA PE1 20 +NX_Q9H6Q3 261 28585 5.23 0 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus;Cell membrane;Nucleoplasm NA PE1 20 +NX_Q9H6Q4 476 53020 6.81 0 Cytosol;Cell membrane NA PE1 16 +NX_Q9H6R0 707 78874 9.08 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Inflammasome NA PE1 17 +NX_Q9H6R3 686 74778 8.84 0 Mitochondrion NA PE1 12 +NX_Q9H6R4 1146 127593 7.42 0 Mitochondrion;Nucleolus;Nucleus;Chromosome NA PE1 9 +NX_Q9H6R6 413 47663 8.81 4 Endoplasmic reticulum membrane NA PE1 10 +NX_Q9H6R7 721 79136 6.23 0 Cytosol;Nucleolus NA PE1 2 +NX_Q9H6S0 1430 160248 8.68 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 5 +NX_Q9H6S1 392 44935 6.15 0 Cytoplasm NA PE1 3 +NX_Q9H6S3 715 80621 6.39 0 Cytosol;Cytoplasm;Stereocilium;Cell membrane Deafness, autosomal recessive, 106 PE1 11 +NX_Q9H6T0 727 78401 6.27 0 Nucleoplasm;Nucleus NA PE1 16 +NX_Q9H6T3 665 75719 6.46 0 Cytosol NA PE1 12 +NX_Q9H6U6 928 101237 6.23 0 Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA PE1 17 +NX_Q9H6U8 611 69863 8.91 8 Endoplasmic reticulum membrane;Endoplasmic reticulum Gillessen-Kaesbach-Nishimura syndrome;Congenital disorder of glycosylation 1L PE1 11 +NX_Q9H6V9 325 37319 6.09 0 Cytosol;Nucleus speckle;Lipid droplet;Endoplasmic reticulum NA PE1 2 +NX_Q9H6W3 641 71086 6.02 0 Nucleoplasm;Nucleolus NA PE1 14 +NX_Q9H6X2 564 62789 7.54 1 Cytoplasmic vesicle;Filopodium membrane;Lamellipodium membrane;Cell membrane GAPO syndrome;Hemangioma, capillary infantile PE1 2 +NX_Q9H6X4 195 21586 6.08 2 Cytosol;Perinuclear region;Membrane NA PE1 11 +NX_Q9H6X5 657 71343 5.52 0 Nucleus NA PE1 19 +NX_Q9H6Y2 383 42070 4.78 0 Cytoplasm;Nucleolus;Nucleus NA PE1 5 +NX_Q9H6Y5 334 35273 10.79 0 NA NA PE1 X +NX_Q9H6Y7 350 38299 5.37 1 Cytosol;Endomembrane system NA PE1 17 +NX_Q9H6Z4 567 60210 4.7 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 19 +NX_Q9H6Z9 239 27261 7.56 0 Cytosol;Cytoplasm;Nucleus NA PE1 14 +NX_Q9H706 876 97186 6.32 0 Cytosol;Nucleoplasm NA PE1 18 +NX_Q9H707 407 46198 8.84 0 Nucleus NA PE1 19 +NX_Q9H714 662 73457 5.69 0 Cytosol NA PE1 13 +NX_Q9H720 699 78584 8.75 10 Membrane NA PE1 4 +NX_Q9H741 205 23594 8.49 0 Secreted NA PE1 12 +NX_Q9H756 370 42334 5.01 1 Membrane NA PE1 9 +NX_Q9H765 288 31642 5.58 0 Cytoplasm NA PE1 12 +NX_Q9H772 168 19320 9.36 0 Secreted Tooth agenesis, selective, 9 PE1 1 +NX_Q9H773 170 18681 4.93 0 Cytosol;Nucleoplasm;Mitochondrion;Nucleus NA PE1 16 +NX_Q9H777 363 40019 6.32 0 Cytosol;Nucleus NA PE1 18 +NX_Q9H788 454 52727 8.09 0 Cytosol;Cytoplasm NA PE1 8 +NX_Q9H790 373 41816 5.28 0 Cytosol;Nucleoplasm;Nucleus NA PE1 1 +NX_Q9H792 1746 193106 6.46 0 Focal adhesion;Cytoskeleton NA PE1 15 +NX_Q9H799 3197 361746 6.55 2 Cytosol;Cilium;Membrane Orofaciodigital syndrome 6;Joubert syndrome 17 PE1 5 +NX_Q9H7B2 306 35583 10 0 Nucleolus;Nucleus NA PE1 6 +NX_Q9H7B4 428 49097 7.05 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 1 +NX_Q9H7B7 122 14425 9.47 0 Secreted NA PE2 7 +NX_Q9H7C4 482 55299 4.59 0 Cytoplasmic vesicle;Perinuclear region;Golgi apparatus;Cell membrane NA PE1 1 +NX_Q9H7C9 122 13332 8.58 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 11 +NX_Q9H7D0 1870 215309 8.08 0 Cytosol;Cytoplasm;Cell membrane NA PE1 8 +NX_Q9H7D7 661 72124 5.74 0 Cytosol;Mitochondrion;Cytoplasm;Nucleus;Nucleoplasm Skraban-Deardorff syndrome PE1 1 +NX_Q9H7E2 651 73185 9.27 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Golgi apparatus NA PE1 13 +NX_Q9H7E9 229 24993 9.99 0 Nucleoplasm;Cell membrane NA PE1 8 +NX_Q9H7F0 1226 138043 6.21 11 Cytosol;Nucleolus;Cell membrane;Membrane NA PE1 3 +NX_Q9H7F4 350 40599 7.66 7 Membrane NA PE1 2 +NX_Q9H7H0 456 50734 9.45 0 Mitochondrion;Nucleus NA PE1 14 +NX_Q9H7J1 279 30644 11.16 0 Mitochondrion;Spindle;Cytoskeleton NA PE1 14 +NX_Q9H7L2 352 38777 8.69 0 Secreted NA PE5 19 +NX_Q9H7L9 328 38136 5.55 0 Cytosol;Nucleus NA PE1 12 +NX_Q9H7M6 989 110138 6.63 0 NA NA PE1 19 +NX_Q9H7M9 311 33908 6.45 1 Nucleoplasm;Cell membrane NA PE1 10 +NX_Q9H7N4 1312 139270 9.31 0 Cytosol;Nucleoplasm;Nucleus NA PE1 19 +NX_Q9H7P6 319 35620 8.42 0 Cytoplasmic vesicle;Endosome;Late endosome membrane;Golgi apparatus NA PE1 9 +NX_Q9H7P9 1386 147969 5.57 0 Cytosol;Nucleoplasm Leukodystrophy and acquired microcephaly with or without dystonia PE1 19 +NX_Q9H7R0 627 72863 9.03 0 Cytoplasmic vesicle;Nucleus;Nucleus membrane NA PE2 19 +NX_Q9H7R5 613 70223 9.4 0 Nucleus;Nucleus membrane NA PE1 19 +NX_Q9H7S9 590 58222 8.99 0 Cytoplasm;Nucleus NA PE1 8 +NX_Q9H7T0 1116 126924 6.72 4 Cytoplasmic vesicle;Membrane NA PE1 14 +NX_Q9H7T3 257 26270 11.69 0 NA NA PE1 10 +NX_Q9H7T9 357 40253 7.19 0 Nucleus;Spindle pole;Chromosome;Centrosome NA PE1 1 +NX_Q9H7U1 834 93548 6.4 0 Cytosol;Nucleoplasm;Cytoskeleton NA PE1 10 +NX_Q9H7V2 258 28551 4.74 1 Synapse;Early endosome membrane;Cell membrane;Cytoplasmic vesicle;Dendrite;Dendritic spine;Postsynaptic density NA PE1 20 +NX_Q9H7X0 242 27451 7.21 0 Cytosol;Cytoskeleton;Golgi apparatus membrane NA PE1 16 +NX_Q9H7X2 142 15517 9.87 1 Membrane NA PE2 1 +NX_Q9H7X3 374 40575 9.26 0 Nucleolus;Nucleus NA PE1 8 +NX_Q9H7X7 185 20835 5.03 0 Cytosol;Cytoskeleton;Cilium NA PE1 7 +NX_Q9H7Y0 433 48555 8.11 0 Secreted NA PE1 X +NX_Q9H7Z3 1164 132673 7.72 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 14 +NX_Q9H7Z6 458 52403 8.48 0 Nucleoplasm;Nucleus;Chromosome NA PE1 16 +NX_Q9H7Z7 377 41943 9.22 1 Mitochondrion;Perinuclear region;Golgi apparatus membrane NA PE1 9 +NX_Q9H808 572 63473 5.78 0 Cytoplasm Preimplantation embryonic lethality 1 PE1 19 +NX_Q9H813 350 40043 9.01 2 Membrane NA PE1 1 +NX_Q9H814 394 44403 5.27 0 Nucleoplasm;Cytoplasm;Cajal body NA PE1 5 +NX_Q9H816 532 60002 8.64 0 Nucleoplasm;Nucleus;Centrosome;Telomere Hoyeraal-Hreidarsson syndrome PE1 1 +NX_Q9H819 358 41551 7.04 1 Cell junction;Membrane NA PE1 5 +NX_Q9H825 291 33387 6.46 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q9H832 354 38210 5.37 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 17 +NX_Q9H840 131 14537 6.83 0 Cytosol;Cytoplasm;Nucleus;Gem;Nucleoplasm NA PE1 19 +NX_Q9H841 368 40785 9.05 9 Membrane NA PE1 8 +NX_Q9H845 621 68760 8.15 0 Mitochondrion Acyl-CoA dehydrogenase family, member 9, deficiency PE1 3 +NX_Q9H853 241 27551 7.71 0 Cytoskeleton NA PE5 2 +NX_Q9H857 520 60719 6.3 0 NA NA PE1 3 +NX_Q9H867 229 25807 4.83 0 Cytosol;Cytoplasm NA PE1 14 +NX_Q9H869 796 87944 8.04 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Grange syndrome PE1 1 +NX_Q9H871 391 43993 5.71 0 Nucleoplasm;Cytoplasm NA PE1 2 +NX_Q9H875 184 20997 9.78 0 Cytosol;Cytoskeleton;Nucleolus NA PE1 7 +NX_Q9H892 705 78756 5.5 0 Nucleoplasm NA PE1 11 +NX_Q9H898 229 25833 9.49 0 Cytoskeleton;Nucleus NA PE1 8 +NX_Q9H8E8 782 88844 6.14 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 20 +NX_Q9H8G1 570 66319 8.94 0 Nucleus NA PE1 19 +NX_Q9H8G2 361 38368 4.63 0 Cytoplasmic vesicle NA PE1 9 +NX_Q9H8H0 719 81124 5.74 0 Nucleolus NA PE1 17 +NX_Q9H8H2 851 94087 10.01 0 Cytoplasmic vesicle;Nucleolus;Golgi apparatus NA PE1 9 +NX_Q9H8H3 244 28319 8.7 0 Lipid droplet;Endoplasmic reticulum;Membrane NA PE1 12 +NX_Q9H8J5 431 46810 6.09 1 Cytoplasmic vesicle;Golgi apparatus;Membrane NA PE1 12 +NX_Q9H8K7 445 49249 5.85 0 NA NA PE1 10 +NX_Q9H8L6 949 104409 5.56 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 10 +NX_Q9H8M1 238 27071 9.67 0 Cytosol;Mitochondrion inner membrane NA PE1 2 +NX_Q9H8M2 597 67000 5.81 0 Nucleoplasm NA PE1 5 +NX_Q9H8M5 875 96623 6 3 Cytoplasmic vesicle;Cell membrane Hypomagnesemia 6;Hypomagnesemia, seizures, and mental retardation PE1 10 +NX_Q9H8M7 445 49725 4.69 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE1 10 +NX_Q9H8M9 152 17470 6.44 1 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Lysosome membrane;Cell membrane NA PE1 2 +NX_Q9H8N7 513 54939 7.17 0 Cytosol;Cytoplasm;Nucleus NA PE1 8 +NX_Q9H8P0 318 36521 9.49 6 Endoplasmic reticulum membrane;Cytosol;Cell membrane Kahrizi syndrome;Congenital disorder of glycosylation 1Q PE1 4 +NX_Q9H8Q6 139 16103 9.14 0 NA NA PE5 15 +NX_Q9H8S5 307 33574 8.96 0 NA NA PE2 19 +NX_Q9H8S9 216 25080 6.45 0 NA NA PE1 2 +NX_Q9H8T0 292 33128 9.34 0 Cytoplasm;Cell membrane NA PE1 16 +NX_Q9H8U3 227 25184 7.43 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 6 +NX_Q9H8V3 914 103505 7.77 0 Cleavage furrow;Cytosol;Cytoplasm;Cell junction;Nucleus;Spindle;Midbody;Tight junction NA PE1 3 +NX_Q9H8V8 135 14815 11.93 0 NA NA PE5 4 +NX_Q9H8W2 130 13851 12.08 0 NA NA PE5 6 +NX_Q9H8W3 233 27021 7.69 0 Nucleolus;Nucleus NA PE1 10 +NX_Q9H8W4 249 27798 8.55 0 Endosome;Early endosome membrane;Endoplasmic reticulum NA PE1 8 +NX_Q9H8W5 580 64359 8.26 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA PE1 1 +NX_Q9H8X2 491 56017 8.67 0 Cytosol;Cytoplasm;Nucleus NA PE1 9 +NX_Q9H8X3 128 13648 8.17 0 NA NA PE5 6 +NX_Q9H8X9 412 45975 8.65 4 Membrane NA PE1 5 +NX_Q9H8Y1 702 78260 9.17 0 Nucleoplasm NA PE1 14 +NX_Q9H8Y5 726 80927 8.69 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 2 +NX_Q9H8Y8 452 47145 4.73 0 Endoplasmic reticulum membrane;Golgi apparatus membrane;Golgi apparatus NA PE1 2 +NX_Q9H900 591 67214 5.85 0 Kinetochore NA PE1 15 +NX_Q9H902 201 22255 9.52 2 Mitochondrion membrane;Endoplasmic reticulum;Membrane Neuronopathy, distal hereditary motor, 5B;Spastic paraplegia 31, autosomal dominant PE1 2 +NX_Q9H903 347 37315 9.38 0 Cytoplasm;Mitochondrion inner membrane NA PE1 4 +NX_Q9H910 190 20063 9.3 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 16 +NX_Q9H920 327 37882 6.6 6 Cytoplasmic vesicle;Nucleus;Golgi apparatus;Membrane NA PE1 11 +NX_Q9H930 580 67005 8.79 0 Nucleoplasm NA PE1 2 +NX_Q9H936 323 34470 9.42 6 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane Epileptic encephalopathy, early infantile, 3 PE1 11 +NX_Q9H939 334 38858 8.72 0 Mitochondrion;Cytoplasm;Nucleus;Cell membrane;Membrane NA PE1 18 +NX_Q9H944 212 23222 6.42 0 Nucleoplasm;Nucleus;Centrosome NA PE1 6 +NX_Q9H963 129 15019 9.39 0 Nucleus NA PE5 19 +NX_Q9H967 626 69769 9.35 0 Nucleolus;Nucleus NA PE1 15 +NX_Q9H972 538 58697 5.71 0 Nucleus;Cell membrane;Secreted NA PE1 14 +NX_Q9H974 415 46713 6.36 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Mitochondrion outer membrane NA PE1 3 +NX_Q9H977 334 35891 5.77 0 Cytosol;Cytoplasmic vesicle NA PE1 2 +NX_Q9H981 624 70484 7.86 0 Nucleus;Centrosome;Chromosome NA PE1 3 +NX_Q9H987 977 102481 9.77 0 Cytosol;Nucleus speckle;Cytoskeleton;Cell junction NA PE1 10 +NX_Q9H992 704 78051 6.32 0 Cytosol;Cell membrane NA PE1 2 +NX_Q9H993 441 51172 5.48 0 Cytosol;Nucleus NA PE1 6 +NX_Q9H999 370 41094 6.13 0 Nucleoplasm;Cytoplasm;Golgi apparatus NA PE1 5 +NX_Q9H9A5 744 82310 7.95 0 Cytosol;Cytoplasm;Nucleus;Centrosome;Nucleoplasm NA PE1 3 +NX_Q9H9A6 602 68250 6.04 0 Nucleolus NA PE1 1 +NX_Q9H9A7 625 70144 4.86 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q9H9B1 1298 141466 5.5 0 Nucleoplasm;Nucleus;Chromosome Kleefstra syndrome 1 PE1 9 +NX_Q9H9B4 322 35619 9.22 5 Mitochondrion;Mitochondrion membrane NA PE1 5 +NX_Q9H9C1 493 57005 6.94 0 Cytoplasmic vesicle;Cytoplasm;Recycling endosome;Late endosome;Early endosome Arthrogryposis, renal dysfunction and cholestasis syndrome 2 PE1 14 +NX_Q9H9D4 720 78439 6.88 0 Cytosol;Nucleus;Microtubule organizing center Retinitis pigmentosa 72;Vitreoretinopathy, exudative 6 PE1 11 +NX_Q9H9E1 313 34272 4.99 0 Cytoskeleton;Cell junction;Cell membrane;Membrane NA PE1 5 +NX_Q9H9E3 785 89083 5.09 0 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2J PE1 16 +NX_Q9H9F9 607 68297 5.17 0 Cytoplasm;Nucleus NA PE1 20 +NX_Q9H9G7 860 97360 9.26 0 Cytosol;Nucleoplasm;P-body NA PE1 1 +NX_Q9H9H4 285 31307 6.78 0 Late endosome membrane NA PE1 12 +NX_Q9H9H5 199 21005 10.08 0 Cytosol;Cytoskeleton;Golgi apparatus NA PE1 3 +NX_Q9H9J2 332 37535 8.65 0 Mitochondrion;Nucleus;Cell membrane Combined oxidative phosphorylation deficiency 16 PE1 2 +NX_Q9H9J4 1324 145392 8.87 0 Nucleus NA PE1 7 +NX_Q9H9K5 563 63547 8.16 1 Cytosol;Nucleus;Cell membrane;Secreted NA PE1 4 +NX_Q9H9L3 353 39154 9.94 0 Nucleoplasm;Nucleolus NA PE1 1 +NX_Q9H9L4 492 55042 6.18 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA PE1 12 +NX_Q9H9L7 192 21867 8.91 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE1 1 +NX_Q9H9P2 273 30431 6.38 1 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum;Membrane NA PE1 21 +NX_Q9H9P5 680 73828 8.42 0 Cytosol;Cytoplasm;Nucleus NA PE1 16 +NX_Q9H9P8 463 50316 8.45 0 Mitochondrion L-2-hydroxyglutaric aciduria PE1 14 +NX_Q9H9Q2 264 29622 5.83 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 2 +NX_Q9H9Q4 299 33337 5.65 0 Nucleolus;Nucleus Severe combined immunodeficiency due to NHEJ1 deficiency PE1 2 +NX_Q9H9R9 158 17042 4.26 0 Cytosol;Nucleus speckle NA PE1 16 +NX_Q9H9S0 305 34620 6.32 0 Nucleus NA PE1 12 +NX_Q9H9S3 476 52248 8.31 10 Endoplasmic reticulum membrane NA PE1 10 +NX_Q9H9S4 337 39088 8.49 0 Cytoplasmic vesicle NA PE1 13 +NX_Q9H9S5 495 54568 7.05 1 Rough endoplasmic reticulum;Golgi apparatus;Secreted;Cytosol;Cytoplasm;Golgi apparatus membrane;Sarcolemma;Nucleus Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5;Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5;Muscular dystrophy-dystroglycanopathy limb-girdle C5 PE1 19 +NX_Q9H9T3 547 62259 9.04 0 Cytoplasm;Nucleus NA PE1 8 +NX_Q9H9V4 155 17475 8.21 1 Endoplasmic reticulum;Golgi apparatus;Membrane NA PE1 8 +NX_Q9H9V9 463 52493 5.79 0 Cytoplasmic vesicle;Cell membrane NA PE1 1 +NX_Q9H9Y2 349 40111 10.01 0 Nucleolus NA PE1 1 +NX_Q9H9Y4 310 34561 5.07 0 NA NA PE1 1 +NX_Q9H9Y6 1135 128229 8.07 0 Cytosol;Nucleolus NA PE1 2 +NX_Q9H9Z2 209 22743 8.35 0 P-body;Stress granule;Cytoplasm;Nucleoplasm;Nucleolus;Rough endoplasmic reticulum NA PE1 1 +NX_Q9HA38 289 32059 9.12 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 3 +NX_Q9HA47 277 31435 6.8 0 Nucleus NA PE1 9 +NX_Q9HA64 309 34412 6.84 0 Nucleoplasm;Cytoplasm NA PE1 17 +NX_Q9HA65 648 72728 5.05 0 Autophagosome NA PE1 19 +NX_Q9HA72 323 36175 7.61 4 Mitochondrion;Nucleoplasm;Cytosol;Membrane NA PE1 10 +NX_Q9HA77 564 62224 8.58 0 Mitochondrion;Mitochondrion matrix;Nucleoplasm Combined oxidative phosphorylation deficiency 27 PE1 13 +NX_Q9HA82 394 46399 9.19 6 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nucleus;Nucleus membrane;Endoplasmic reticulum NA PE1 19 +NX_Q9HA90 598 65701 5.44 0 NA NA PE1 3 +NX_Q9HA92 442 48714 7.7 0 Mitochondrion;Cytosol;Cell membrane;Nucleoplasm NA PE1 17 +NX_Q9HAA7 133 14475 9.61 0 NA NA PE5 21 +NX_Q9HAB3 445 45777 6.73 11 Cell membrane Brown-Vialetto-Van Laere syndrome 2 PE1 8 +NX_Q9HAB8 311 34005 6.26 0 Mitochondrion;Nucleolus;Nucleus NA PE1 1 +NX_Q9HAC7 445 48462 8.54 0 Mitochondrion Glutaric aciduria 3 PE1 7 +NX_Q9HAC8 227 25938 7.69 0 Cytosol;Cytoplasmic vesicle;Cell membrane NA PE1 10 +NX_Q9HAD4 459 51728 5.25 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA PE1 5 +NX_Q9HAE3 211 24488 4.91 0 Nucleoplasm;Cell membrane NA PE1 8 +NX_Q9HAF1 191 21635 9.32 0 Kinetochore;Nucleolus NA PE1 1 +NX_Q9HAH1 456 51581 9.94 0 Nucleus NA PE1 19 +NX_Q9HAH7 460 48388 9.96 0 Nucleoplasm NA PE1 16 +NX_Q9HAI6 301 33894 4.94 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 X +NX_Q9HAJ7 183 20877 9.43 0 Nucleolus;Nucleus NA PE1 5 +NX_Q9HAK2 575 62650 9.21 0 Nucleus NA PE1 8 +NX_Q9HAN9 279 31932 8.98 0 Nucleoplasm;Nucleus Leber congenital amaurosis 9 PE1 1 +NX_Q9HAP2 919 101185 8.61 0 Cytoplasm;Nucleus;Mitochondrion outer membrane NA PE1 12 +NX_Q9HAP6 207 22896 8.71 0 Synaptosome;Basolateral cell membrane;Cell membrane;Postsynaptic density;Cell junction;Tight junction NA PE1 19 +NX_Q9HAQ2 790 89986 6.71 0 Cytoskeleton;Nucleolus;Nucleus NA PE1 3 +NX_Q9HAR2 1447 161812 5.99 7 Axon;Cell junction;Cell membrane NA PE1 4 +NX_Q9HAS0 396 44622 4.98 0 Cytosol;Cytoplasmic vesicle;Golgi apparatus;trans-Golgi network NA PE1 17 +NX_Q9HAS3 691 76930 7.56 13 Endoplasmic reticulum membrane;Cell membrane NA PE1 9 +NX_Q9HAT0 212 23893 5.52 0 Flagellum NA PE1 3 +NX_Q9HAT1 526 57129 7.73 1 Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE2 15 +NX_Q9HAT2 523 58315 6.93 0 Secreted;Lysosome Autoimmune disease 6 PE1 11 +NX_Q9HAT8 420 46435 6.97 0 Cytoskeleton;Nucleolus;Nucleus NA PE1 14 +NX_Q9HAU0 1116 127464 7.2 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 12 +NX_Q9HAU4 748 86196 8.18 0 Nucleus speckle;Nucleus;Membrane raft;Cell membrane;Cytoplasm NA PE1 17 +NX_Q9HAU5 1272 147810 5.5 0 Cytosol;Cytoplasm;Perinuclear region NA PE1 10 +NX_Q9HAU6 139 15994 5.42 0 NA NA PE5 8 +NX_Q9HAU8 725 80000 5.06 0 Nucleolus;Nucleus NA PE1 2 +NX_Q9HAV0 340 37567 5.59 0 NA Charcot-Marie-Tooth disease, dominant, intermediate type, F PE1 3 +NX_Q9HAV4 1204 136311 5.56 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 6 +NX_Q9HAV5 297 32759 4.91 1 Cell junction;Membrane NA PE1 X +NX_Q9HAV7 217 24279 8.24 0 Mitochondrion;Mitochondrion matrix NA PE1 4 +NX_Q9HAW0 419 46533 8.29 0 Nucleolus;Nucleus NA PE1 8 +NX_Q9HAW4 1339 151094 4.74 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 1 +NX_Q9HAW7 530 59819 7.88 1 Endoplasmic reticulum membrane;Microsome NA PE1 2 +NX_Q9HAW8 530 59810 6.88 1 Endoplasmic reticulum membrane;Microsome NA PE1 2 +NX_Q9HAW9 530 59742 7.6 1 Endoplasmic reticulum membrane;Microsome NA PE1 2 +NX_Q9HAY2 307 35222 9.71 0 Cytoskeleton NA PE1 3 +NX_Q9HAY6 547 62637 6.21 0 Cytoskeleton;Microtubule organizing center Hypercarotenemia and vitamin A deficiency, autosomal dominant PE1 16 +NX_Q9HAZ1 481 57492 8.92 0 Cytoskeleton;Nucleus NA PE1 5 +NX_Q9HAZ2 1276 140251 5.81 0 Nucleoplasm;Nucleus Cardiomyopathy, dilated 1LL;Left ventricular non-compaction 8 PE1 1 +NX_Q9HB03 270 31500 9.55 7 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cytosol NA PE1 10 +NX_Q9HB07 376 42449 6.19 0 Mitochondrion;Nucleoplasm;Nucleus NA PE1 12 +NX_Q9HB09 334 36821 9.45 0 Cytosol NA PE1 19 +NX_Q9HB14 408 45391 8.73 4 Nucleus speckle;Cell junction;Membrane NA PE1 14 +NX_Q9HB15 430 46889 9.89 4 Membrane NA PE1 2 +NX_Q9HB19 425 47255 8.92 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 8 +NX_Q9HB20 300 33861 6.19 0 trans-Golgi network membrane;Golgi apparatus NA PE1 2 +NX_Q9HB21 404 45553 8.77 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 10 +NX_Q9HB29 575 65405 7.24 1 Membrane NA PE1 2 +NX_Q9HB31 216 22879 9.12 0 Nucleus NA PE3 17 +NX_Q9HB40 452 50831 5.6 0 Golgi apparatus;Secreted NA PE1 17 +NX_Q9HB55 503 57670 8.27 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 7 +NX_Q9HB58 689 78396 9.1 0 Nucleus Hepatic venoocclusive disease with immunodeficiency PE1 2 +NX_Q9HB63 628 70071 8.44 0 Basement membrane NA PE1 12 +NX_Q9HB65 397 45361 5.73 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 15 +NX_Q9HB71 228 26210 8.28 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 1 +NX_Q9HB75 910 99712 6.01 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA PE1 11 +NX_Q9HB89 426 47351 9.06 7 Cell membrane NA PE2 2 +NX_Q9HB90 399 44224 4.94 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Lysosome NA PE1 1 +NX_Q9HB96 536 58711 5.17 0 Nucleoplasm;Nucleus Fanconi anemia complementation group E PE1 6 +NX_Q9HBA0 871 98281 7.83 6 Adherens junction;Apical cell membrane;Cilium;Endoplasmic reticulum;Cell membrane Parastremmatic dwarfism;Charcot-Marie-Tooth disease 2C;Brachyolmia 3;Metatropic dysplasia;Spondylometaphyseal dysplasia Kozlowski type;Scapuloperoneal spinal muscular atrophy;Neuronopathy, distal hereditary motor, 8;Digital arthropathy-brachydactyly, familial;Avascular necrosis of the femoral head, primary 2;Spondyloepiphyseal dysplasia Maroteaux type PE1 12 +NX_Q9HBA9 442 50045 6.53 0 Cytoplasm NA PE2 11 +NX_Q9HBB8 845 88223 4.81 1 Microvillus membrane;Apical cell membrane NA PE1 11 +NX_Q9HBD1 1191 131669 6.43 0 Cytoplasmic vesicle;P-body NA PE1 9 +NX_Q9HBE1 687 74060 8.71 0 Nucleoplasm;Nucleus NA PE1 22 +NX_Q9HBE4 155 17923 9.42 0 Secreted Immunodeficiency, common variable, 11 PE1 4 +NX_Q9HBE5 538 59130 4.57 1 Cytosol;Cell membrane;Membrane Immunodeficiency 56 PE1 16 +NX_Q9HBF4 777 87176 7.29 0 Golgi stack;Endoplasmic reticulum NA PE1 14 +NX_Q9HBF5 79 9024 8.52 0 NA NA PE2 15 +NX_Q9HBG4 840 96386 5.75 8 Cytosol;Apical cell membrane Renal tubular acidosis, distal, autosomal recessive PE1 7 +NX_Q9HBG6 1241 141825 6.08 0 Cytosol;Nucleoplasm;Cytoplasm;Cilium;Cilium basal body Cranioectodermal dysplasia 1 PE1 3 +NX_Q9HBG7 655 72139 5.36 1 Cell membrane;Membrane NA PE1 1 +NX_Q9HBH0 211 23625 8.9 0 Cytoskeleton;Nucleus;Cell membrane;Golgi apparatus NA PE1 12 +NX_Q9HBH1 243 27013 9.48 0 Nucleoplasm;Mitochondrion NA PE1 16 +NX_Q9HBH5 336 36865 9.02 0 Cytosol;Nucleoplasm;Endoplasmic reticulum NA PE1 2 +NX_Q9HBH7 125 14860 6.31 0 Cytoplasm;Nucleus NA PE1 X +NX_Q9HBH9 465 51875 5.8 0 Cytoplasm;Nucleus;PML body NA PE1 19 +NX_Q9HBI0 331 37485 5.32 0 Focal adhesion;Cytoskeleton;Cell membrane NA PE1 22 +NX_Q9HBI1 364 41714 6.26 0 Cytosol;Cell membrane;Focal adhesion;Sarcomere;Lamellipodium;Cytoskeleton;Z line NA PE1 22 +NX_Q9HBI5 128 15007 5.67 0 Cytosol;Cell membrane NA PE1 3 +NX_Q9HBI6 524 60146 6.26 1 Microsome membrane NA PE1 19 +NX_Q9HBJ0 212 23616 6.23 0 Nucleus;Cell membrane;Secreted NA PE1 X +NX_Q9HBJ7 922 104156 5.62 0 NA NA PE2 19 +NX_Q9HBJ8 222 25235 5.43 1 Cytoplasmic vesicle;Cell membrane;Endoplasmic reticulum NA PE1 X +NX_Q9HBK9 375 41748 5.83 0 Mitochondrion;Cytosol;Nucleus NA PE1 10 +NX_Q9HBL0 1735 185701 7.55 0 Cell surface;Focal adhesion;Cytoskeleton NA PE1 2 +NX_Q9HBL6 345 38171 6.26 1 Membrane NA PE2 3 +NX_Q9HBL7 147 17201 9.58 2 Mitochondrion;Cell membrane NA PE1 9 +NX_Q9HBL8 299 33344 7.06 0 Cytoplasm;Perinuclear region;Nucleus NA PE1 16 +NX_Q9HBM0 779 88665 5.11 2 Acrosome;Cytosol;Cell membrane;Nucleoplasm;Nucleus;Adherens junction;Stereocilium membrane NA PE1 12 +NX_Q9HBM1 224 26153 7.7 0 Kinetochore;Cytosol;Nucleus NA PE1 2 +NX_Q9HBM6 251 27622 9.58 0 Nucleus NA PE1 X +NX_Q9HBQ8 144 15482 5.27 0 NA NA PE5 12 +NX_Q9HBR0 1119 119762 5.51 10 Golgi apparatus;Membrane NA PE1 17 +NX_Q9HBT6 801 88993 4.54 1 Cell membrane NA PE1 18 +NX_Q9HBT7 754 87565 8.8 0 Nucleus;Golgi apparatus NA PE1 17 +NX_Q9HBT8 521 60175 8.64 0 Nucleolus;Nucleus NA PE1 17 +NX_Q9HBU1 254 27298 9.72 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 9 +NX_Q9HBU6 452 50968 6.09 0 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA PE1 12 +NX_Q9HBU9 364 40448 5.23 2 Sarcolemma;Membrane NA PE1 3 +NX_Q9HBV1 291 33870 8.12 3 Cytosol;Nucleolus;Membrane NA PE2 6 +NX_Q9HBV2 294 32143 4.57 1 Acrosome inner membrane NA PE1 6 +NX_Q9HBW0 351 39084 9.48 7 Cell surface;Cell membrane NA PE1 19 +NX_Q9HBW1 653 72717 6.58 1 Postsynaptic cell membrane;Golgi apparatus;Membrane NA PE1 7 +NX_Q9HBW9 690 77811 7.81 7 Cell membrane NA PE1 1 +NX_Q9HBX3 110 12922 8.84 0 NA NA PE4 7 +NX_Q9HBX8 967 104298 5.43 7 Nucleoplasm;Cell membrane NA PE1 1 +NX_Q9HBX9 757 86975 8.39 7 Cell membrane NA PE1 4 +NX_Q9HBY0 568 64935 8.28 6 Cytoplasmic vesicle;Membrane NA PE1 6 +NX_Q9HBY8 427 47604 7.16 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 20 +NX_Q9HBZ2 717 78691 6.25 0 Nucleus Webb-Dattani syndrome PE1 15 +NX_Q9HC07 324 34906 6.53 6 Lysosome membrane;trans-Golgi network membrane;Golgi apparatus;Early endosome membrane;Cytoplasmic vesicle;Late endosome membrane;Golgi apparatus membrane Congenital disorder of glycosylation 2K PE1 4 +NX_Q9HC10 1997 226753 5.49 1 Endoplasmic reticulum membrane;Synaptic vesicle membrane;Basolateral cell membrane;Cell membrane Auditory neuropathy, autosomal recessive, 1;Deafness, autosomal recessive, 9 PE1 2 +NX_Q9HC16 384 46408 8.28 0 Cytoplasm;P-body;Nucleus NA PE1 22 +NX_Q9HC21 320 35511 9.61 6 Mitochondrion inner membrane Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type;Microcephaly, Amish type PE1 17 +NX_Q9HC23 129 14314 10.12 0 Secreted Hypogonadotropic hypogonadism 4 with or without anosmia PE1 3 +NX_Q9HC24 238 26971 6.58 6 Golgi apparatus membrane NA PE1 12 +NX_Q9HC29 1040 115283 6.3 0 Basolateral cell membrane;Golgi apparatus;Cytosol;Cytoplasm;Membrane;Mitochondrion Blau syndrome;Inflammatory bowel disease 1;Yao syndrome PE1 16 +NX_Q9HC35 981 108916 5.96 0 Cytosol;Cytoskeleton NA PE1 2 +NX_Q9HC36 420 47020 8.89 0 Mitochondrion NA PE1 17 +NX_Q9HC38 313 34793 5.4 0 Cytosol;Mitochondrion;Nucleolus;Nucleus NA PE1 17 +NX_Q9HC44 474 52302 6.36 0 Nucleoplasm;Focal adhesion;Nucleus;Cell membrane NA PE1 1 +NX_Q9HC47 74 8406 5.3 2 Membrane NA PE2 18 +NX_Q9HC52 389 43396 9.92 0 Nucleoplasm;Nucleus NA PE1 17 +NX_Q9HC56 1237 136064 5.26 1 Nucleoplasm;Centrosome;Cell membrane NA PE1 13 +NX_Q9HC57 220 23977 8.77 0 Secreted NA PE1 16 +NX_Q9HC58 644 71992 5.19 10 Membrane NA PE1 20 +NX_Q9HC62 589 67855 9.54 0 Cytosol;Cytoplasm;Nuclear pore complex;Nucleus membrane NA PE1 3 +NX_Q9HC73 371 42013 5.11 1 Cell membrane;Secreted NA PE1 X +NX_Q9HC77 1338 153000 6.23 0 Centriole;Nucleoplasm;Centrosome;Cell membrane Microcephaly 6, primary, autosomal recessive;Seckel syndrome 4 PE1 13 +NX_Q9HC78 741 81083 6.03 0 Nucleoplasm;Nucleus Primrose syndrome PE1 3 +NX_Q9HC84 5762 596340 6.2 0 Cytoplasmic vesicle;Secreted Pulmonary fibrosis, idiopathic PE1 11 +NX_Q9HC96 672 74952 7.97 0 Cytosol;Nucleoplasm Diabetes mellitus, non-insulin-dependent, 1 PE1 2 +NX_Q9HC97 309 34072 9.06 7 Cell membrane NA PE1 2 +NX_Q9HC98 313 35714 8.26 0 Nucleus speckle;Nucleoplasm;Cytoplasm;Spindle pole;Microtubule organizing center;Cytosol;Nucleus;Centrosome NA PE1 9 +NX_Q9HCB6 807 90973 5.85 0 Cytoskeleton;Nucleolus;Nucleus;Extracellular matrix NA PE1 11 +NX_Q9HCC0 563 61333 7.58 0 Mitochondrion matrix;Mitochondrion 3-methylcrotonoyl-CoA carboxylase 2 deficiency PE1 5 +NX_Q9HCC6 221 23523 11.11 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytosol NA PE1 1 +NX_Q9HCC8 539 61729 8.77 6 Cytoplasm;Cytoskeleton;Cell membrane NA PE1 X +NX_Q9HCC9 887 96490 4.99 0 Cytosol;Early endosome membrane;Nucleus;Cell membrane NA PE1 4 +NX_Q9HCD5 579 65536 9.62 0 Cytoskeleton;Nucleus NA PE1 20 +NX_Q9HCD6 1990 219650 8.31 0 Cytosol NA PE1 17 +NX_Q9HCE0 2579 292481 5.99 0 Nucleus speckle Vici syndrome PE1 18 +NX_Q9HCE1 1003 113671 9 0 P-body;Cytosol;Cytoplasm;Cytoplasmic ribonucleoprotein granule;Stress granule;Nucleus NA PE1 1 +NX_Q9HCE3 1301 141696 8.92 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 18 +NX_Q9HCE5 456 52150 5.89 0 Nucleoplasm;Nucleus NA PE1 4 +NX_Q9HCE6 1279 140379 5.62 0 Cytosol;Cytoplasmic vesicle;Golgi apparatus;Cytoplasm NA PE1 1 +NX_Q9HCE7 757 86114 6.56 0 Cytoplasm;Cell membrane NA PE1 7 +NX_Q9HCE9 1232 136034 5.62 8 Nucleoplasm;Nucleolus;Cell membrane NA PE1 19 +NX_Q9HCF6 1732 197571 6.74 7 Membrane NA PE1 9 +NX_Q9HCG1 818 94112 9.44 0 Cytosol;Nucleus speckle;Nucleus NA PE1 19 +NX_Q9HCG7 927 104649 5.61 0 Endoplasmic reticulum membrane;Cytosol;Golgi apparatus membrane;Golgi apparatus;Nucleoplasm Spastic paraplegia 46, autosomal recessive PE1 9 +NX_Q9HCG8 908 105466 6.6 0 Cytosol;Nucleus speckle;Nucleus NA PE1 2 +NX_Q9HCH0 1330 139013 8.45 0 Centrosome;Golgi apparatus NA PE1 12 +NX_Q9HCH3 593 65734 5.65 0 Cytosol;Perikaryon;Cell projection NA PE1 6 +NX_Q9HCH5 934 104930 7.96 0 Cytoplasm;Nucleus;Golgi apparatus;Cell membrane NA PE1 11 +NX_Q9HCI5 957 103254 5.24 0 Cytosol;Perinuclear region;Nucleus;Cytoskeleton;Cell membrane NA PE1 X +NX_Q9HCI6 787 89673 7.78 0 Nucleus;Nucleus membrane NA PE1 6 +NX_Q9HCI7 577 62541 8.11 0 Cytosol NA PE1 3 +NX_Q9HCJ0 1690 175964 6.47 0 Nucleus NA PE1 17 +NX_Q9HCJ1 492 54241 8 8 Cytosol;Membrane Chondrocalcinosis 2;Craniometaphyseal dysplasia, autosomal dominant PE1 5 +NX_Q9HCJ2 640 71950 6.7 1 Cytosol;Postsynaptic cell membrane NA PE1 11 +NX_Q9HCJ3 691 74339 7.12 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q9HCJ5 1215 133470 7.01 0 Cytosol Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features;Acromelic frontonasal dysostosis PE1 5 +NX_Q9HCJ6 419 45899 4.98 0 Cytosol NA PE1 16 +NX_Q9HCK0 441 49953 6.62 0 Nucleus NA PE1 9 +NX_Q9HCK1 2354 265618 5.79 0 Cytosol;Nucleoplasm NA PE1 2 +NX_Q9HCK4 1378 151200 5.95 1 Membrane;Nucleus;Microtubule organizing center Vesicoureteral reflux 2 PE1 3 +NX_Q9HCK5 861 97097 9.21 0 Nucleoplasm;Cytosol;P-body;Nucleus NA PE1 1 +NX_Q9HCK8 2581 290519 6.04 0 Nucleoplasm;Nucleus Autism 18 PE1 14 +NX_Q9HCL0 1135 126149 4.99 1 Cytosol;Cell membrane;Golgi apparatus NA PE1 4 +NX_Q9HCL2 828 93795 7.81 2 Mitochondrion;Mitochondrion outer membrane NA PE1 10 +NX_Q9HCL3 533 63463 8.92 0 Nucleus speckle;Nucleus NA PE1 19 +NX_Q9HCM1 1747 194857 8.95 0 Cytosol;Cytoskeleton;Nucleolus NA PE1 12 +NX_Q9HCM2 1894 212455 6.42 1 Cell membrane NA PE1 7 +NX_Q9HCM3 1950 210755 5.75 2 Cytoskeleton;Nucleus membrane;Membrane NA PE1 7 +NX_Q9HCM4 733 81856 6.15 0 Cytoplasm;Cell membrane;Adherens junction NA PE1 2 +NX_Q9HCM7 1045 110907 9.7 0 Cytosol;Nucleus;Cell membrane NA PE1 12 +NX_Q9HCM9 518 59690 7.8 0 Cytosol;Mitochondrion NA PE1 6 +NX_Q9HCN2 124 12935 10.26 0 Mitochondrion NA PE2 11 +NX_Q9HCN3 771 84761 7.67 7 Nucleoplasm;Cytoskeleton;Lysosome membrane;Cell membrane NA PE1 16 +NX_Q9HCN4 374 41740 4.8 0 Mitochondrion;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA PE1 2 +NX_Q9HCN6 339 36866 9.35 1 Nucleoplasm;Cell membrane Bleeding disorder, platelet-type 11 PE1 19 +NX_Q9HCN8 221 23598 6.52 0 Endoplasmic reticulum lumen NA PE1 22 +NX_Q9HCP0 422 48511 9.13 0 Cytosol;Cytoplasm NA PE1 15 +NX_Q9HCP6 504 56703 6.67 8 Endoplasmic reticulum membrane NA PE1 3 +NX_Q9HCQ5 603 68359 8.73 1 Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 12 +NX_Q9HCQ7 196 22309 9.26 0 Secreted NA PE1 7 +NX_Q9HCR9 933 104752 6.15 0 Cytosol Primary pigmented nodular adrenocortical disease 2 PE1 2 +NX_Q9HCS2 524 60309 7.29 2 Endoplasmic reticulum membrane;Microsome membrane NA PE1 19 +NX_Q9HCS4 588 62631 9 0 Cytosol;Nucleoplasm;Nucleus NA PE1 2 +NX_Q9HCS5 686 79059 9.44 0 Nucleoplasm;Cytoskeleton;Cell membrane NA PE1 5 +NX_Q9HCS7 855 100010 5.87 0 Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_Q9HCT0 170 19663 11.81 0 Secreted NA PE1 19 +NX_Q9HCU0 757 80859 5.18 1 Nucleoplasm;Cell membrane;Membrane NA PE1 11 +NX_Q9HCU4 2923 317453 5.14 7 Cytosol;Cell membrane NA PE1 1 +NX_Q9HCU5 417 45468 8.02 1 Endoplasmic reticulum membrane;Nucleus;Endoplasmic reticulum NA PE1 2 +NX_Q9HCU8 107 12433 6.29 0 Cytosol;Mitochondrion;Nucleolus;Nucleus NA PE1 11 +NX_Q9HCU9 246 28461 4.69 0 Cytoplasm;Nucleus;Centrosome;Endoplasmic reticulum NA PE1 11 +NX_Q9HCX3 659 75047 8.73 0 Nucleus speckle;Nucleus NA PE1 19 +NX_Q9HCX4 862 99562 8.02 6 Cytoskeleton;Focal adhesion;Nucleus envelope;Cell membrane NA PE1 5 +NX_Q9HCY8 104 11662 5.16 0 Cytosol;Cytoplasm;Nucleus;Cell junction;Cell membrane NA PE1 1 +NX_Q9HCZ1 680 79649 9.33 0 Cytosol;Nucleus NA PE1 20 +NX_Q9HD15 236 25673 6.54 0 Nucleoplasm;Cytosol;Cytoskeleton;Nucleus;Cytoplasm NA PE1 5 +NX_Q9HD20 1204 132955 8.46 10 Endoplasmic reticulum membrane;Cytoplasmic vesicle NA PE1 19 +NX_Q9HD23 443 50318 6.44 2 Mitochondrion inner membrane NA PE1 6 +NX_Q9HD26 462 50520 5.59 0 Synapse;trans-Golgi network membrane;Golgi apparatus;Cytosol;Cytoplasm;Dendrite;Golgi apparatus membrane;Postsynaptic density NA PE1 6 +NX_Q9HD33 250 29450 10.38 0 Mitochondrion NA PE1 3 +NX_Q9HD34 91 10758 10.73 0 Mitochondrion;Nucleus Combined oxidative phosphorylation deficiency 19 PE1 6 +NX_Q9HD36 194 21973 9.63 1 Mitochondrion;Nucleus membrane NA PE1 15 +NX_Q9HD40 501 55726 8.31 0 Cytoplasmic vesicle;Cytoplasm Pontocerebellar hypoplasia 2D PE1 4 +NX_Q9HD42 196 21703 7.77 0 Endosome membrane;Cytoplasm;Nucleus matrix Pontocerebellar hypoplasia 8 PE1 16 +NX_Q9HD43 1115 122353 5.16 1 Mitochondrion;Cytoplasm;Microvillus membrane;Apical cell membrane NA PE1 19 +NX_Q9HD45 589 67888 6.83 9 Cytoplasmic vesicle;Golgi apparatus;Membrane NA PE1 10 +NX_Q9HD47 186 20448 4.8 0 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus;Cell membrane NA PE1 17 +NX_Q9HD64 81 9078 9.65 0 Nucleus speckle NA PE1 X +NX_Q9HD67 2058 237347 5.85 0 Nucleolus;Ruffle;Cytosol;Cell cortex;Filopodium tip;Cell membrane;Filopodium membrane;Lamellipodium;Cytoskeleton NA PE1 5 +NX_Q9HD87 102 12368 8.35 1 Membrane NA PE5 6 +NX_Q9HD89 108 11419 6.52 0 Secreted NA PE1 19 +NX_Q9HD90 331 37041 6.37 0 Nucleus NA PE1 12 +NX_Q9HDB5 637 69305 6.75 1 Membrane NA PE1 14 +NX_Q9HDB8 245 27904 5.6 0 Virion NA PE2 3 +NX_Q9HDB9 667 73588 9.26 0 Cell membrane NA PE1 3 +NX_Q9HDC5 661 71686 9.37 1 Endoplasmic reticulum membrane;Nucleus;Cell membrane;Sarcoplasmic reticulum membrane NA PE1 8 +NX_Q9HDC9 416 46480 5.82 1 Cell membrane;Membrane NA PE1 20 +NX_Q9HDD0 168 18750 5.37 1 Cytosol;Focal adhesion;Membrane NA PE2 3 +NX_Q9N2J8 555 60911 8.88 1 Virion;Cell membrane NA PE2 2 +NX_Q9N2K0 584 64318 8.61 1 Virion;Cell membrane NA PE2 2 +NX_Q9NNW5 1121 121725 6.41 0 Cytosol;Cytoplasm;Cell membrane NA PE1 3 +NX_Q9NNW7 524 56507 7.24 0 Cytosol;Cytoplasm;Mitochondrion;Nucleus Glucocorticoid deficiency 5 PE1 22 +NX_Q9NNX1 390 44264 5.68 0 Cytoplasmic vesicle;Cytoplasm;Secreted NA PE1 1 +NX_Q9NNX6 404 45775 5.43 1 Cell membrane;Secreted NA PE1 19 +NX_Q9NNX9 186 20020 4.51 0 NA NA PE2 X +NX_Q9NNZ3 241 27593 10.56 1 Membrane NA PE1 11 +NX_Q9NNZ6 103 11232 4.56 0 Nucleus;Chromosome NA PE1 16 +NX_Q9NP08 348 36155 6.28 0 Nucleus Oculoauricular syndrome PE1 4 +NX_Q9NP31 389 42934 6.96 0 Cytoplasm NA PE1 1 +NX_Q9NP50 221 24852 9.51 0 Nucleoplasm;Cytosol;Nucleus NA PE1 12 +NX_Q9NP55 256 26713 5.42 0 Secreted NA PE1 20 +NX_Q9NP56 450 51835 6.54 0 Nucleoplasm NA PE1 6 +NX_Q9NP58 842 93886 8.75 10 Endoplasmic reticulum membrane;Golgi apparatus;Cytosol;Cell membrane;Mitochondrion outer membrane;Endosome membrane;Nucleoplasm;Golgi apparatus membrane;Mitochondrion Dyschromatosis universalis hereditaria 3;Microphthalmia, isolated, with coloboma, 7;Pseudohyperkalemia, familial, 2, due to red cell leak PE1 2 +NX_Q9NP59 571 62542 6.08 10 Cytosol;Nucleoplasm;Cell membrane Hemochromatosis 4 PE1 2 +NX_Q9NP60 686 78670 6.05 1 Membrane NA PE2 X +NX_Q9NP61 516 56928 7.04 0 Cytosol;Cytoplasm;Golgi apparatus membrane;Golgi apparatus NA PE1 22 +NX_Q9NP62 436 49268 6.57 0 Cytoplasmic vesicle;Nucleus NA PE1 6 +NX_Q9NP64 241 27570 9.72 0 Nucleus speckle;Nucleolus NA PE1 1 +NX_Q9NP66 347 40144 6.08 0 Nucleus NA PE1 15 +NX_Q9NP70 447 48283 4.79 0 Extracellular matrix Amelogenesis imperfecta 1F PE1 4 +NX_Q9NP71 852 93073 8.7 0 Nucleus NA PE1 7 +NX_Q9NP72 206 22977 5.11 0 Cytoplasm;Nucleus;Cell membrane Warburg micro syndrome 3 PE1 10 +NX_Q9NP73 1137 126056 6.28 0 Endoplasmic reticulum Epileptic encephalopathy, early infantile, 36 PE1 X +NX_Q9NP74 551 62758 5.31 0 Cytoplasm;Cell membrane;Dendrite;Focal adhesion;Dendritic spine;Cytoskeleton NA PE1 1 +NX_Q9NP77 194 22574 5.16 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 1 +NX_Q9NP78 766 84475 8 8 Cytoplasmic vesicle;Lysosome membrane NA PE1 12 +NX_Q9NP79 307 33879 5.87 0 Nucleoplasm;Cytoplasmic vesicle;Endosome membrane;Cytosol;Cytoplasm NA PE1 6 +NX_Q9NP80 782 88477 9.31 1 Endoplasmic reticulum membrane;Golgi apparatus;Nucleoplasm;Cytosol;Perinuclear region;Golgi apparatus membrane;Cytoskeleton Mitochondrial myopathy with lactic acidosis PE1 7 +NX_Q9NP81 518 58283 8.35 0 Mitochondrion matrix Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome PE1 19 +NX_Q9NP84 129 13911 9.37 1 Cytosol;Cell membrane;Membrane NA PE1 16 +NX_Q9NP85 383 42201 8.95 0 Endoplasmic reticulum;Cell membrane Nephrotic syndrome 2 PE1 1 +NX_Q9NP86 173 19826 4.45 0 Cytoplasm NA PE1 19 +NX_Q9NP87 494 54816 8.74 0 Nucleus NA PE1 7 +NX_Q9NP90 201 22719 4.74 0 Phagosome membrane;Cell membrane;Phagosome NA PE1 X +NX_Q9NP91 592 65914 6.25 12 Apical cell membrane Hyperglycinuria;Iminoglycinuria PE1 3 +NX_Q9NP92 439 50365 8.21 0 Cytosol;Nucleoplasm;Mitochondrion NA PE1 5 +NX_Q9NP94 309 32742 5.85 8 Cell membrane NA PE1 14 +NX_Q9NP95 211 23499 8.89 0 Secreted Renal hypodysplasia/aplasia 2 PE1 8 +NX_Q9NP97 96 10922 6.58 0 Cytoplasm;Cytoskeleton NA PE1 20 +NX_Q9NP98 299 31745 8.86 0 Nucleus;Pseudopodium NA PE1 10 +NX_Q9NP99 234 26387 9 1 Cell membrane;Secreted NA PE1 6 +NX_Q9NPA0 242 26471 9.24 1 Nucleoplasm;Membrane NA PE1 15 +NX_Q9NPA1 279 31604 6.88 2 Mitochondrion;Nucleus;Membrane NA PE1 3 +NX_Q9NPA2 562 62554 8.76 0 Cell membrane;Extracellular matrix NA PE1 16 +NX_Q9NPA3 183 20202 5.25 0 Cytoplasm;Cytoskeleton;Nucleus NA PE1 X +NX_Q9NPA5 681 74644 8.77 0 Nucleus NA PE1 20 +NX_Q9NPA8 101 11529 9.39 0 Nucleoplasm;Mitochondrion;Nuclear pore complex;Nucleus NA PE1 8 +NX_Q9NPB0 183 20163 8.95 1 Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA PE1 6 +NX_Q9NPB1 228 25862 8.21 0 Mitochondrion NA PE1 17 +NX_Q9NPB3 220 24482 4.6 0 Perinuclear region;Cell membrane;Golgi apparatus Deafness, autosomal recessive, 93 PE1 11 +NX_Q9NPB6 346 37388 9.29 0 Ruffle;Cytosol;Cytoplasm;Cell membrane;Centrosome;Centriolar satellite;Cytoskeleton;Cell junction;Tight junction NA PE1 16 +NX_Q9NPB8 672 76035 5.34 0 Nucleoplasm;Cytosol NA PE1 20 +NX_Q9NPB9 350 39914 8.8 7 Mitochondrion;Cytoplasmic vesicle;Recycling endosome;Cell membrane;Early endosome NA PE1 3 +NX_Q9NPC1 389 41525 11 7 Nucleoplasm;Cell membrane NA PE1 14 +NX_Q9NPC2 374 42264 8.85 4 Cell membrane Birk-Barel mental retardation dysmorphism syndrome PE1 8 +NX_Q9NPC3 277 31544 8.59 0 Nucleus;Chromosome NA PE1 14 +NX_Q9NPC4 353 40499 9.16 1 Mitochondrion;Golgi apparatus membrane NA PE1 22 +NX_Q9NPC6 264 29898 7.86 0 Cytosol;Nucleus;Z line Cardiomyopathy, familial hypertrophic 16 PE1 4 +NX_Q9NPC7 610 68682 8.56 0 Nucleus NA PE1 3 +NX_Q9NPC8 291 32286 9.14 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE1 2 +NX_Q9NPD3 245 26383 6.07 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA PE1 8 +NX_Q9NPD5 702 77403 9.01 12 Basolateral cell membrane;Cell membrane Hyperbilirubinemia, Rotor type PE1 12 +NX_Q9NPD7 142 15333 6.54 0 Synapse;Cell membrane NA PE1 6 +NX_Q9NPD8 197 22521 7.78 0 Nucleolus;Nucleus Fanconi anemia complementation group T PE1 1 +NX_Q9NPE2 291 32408 9.16 0 Cytoplasm;Nucleus;Mitochondrion membrane;Secreted NA PE1 15 +NX_Q9NPE3 64 7706 10.01 0 Cajal body;Nucleolus;Nucleus Dyskeratosis congenita, autosomal recessive, 1 PE1 15 +NX_Q9NPE6 437 48165 6.65 2 Cytoskeleton;Flagellum axoneme;Nucleus inner membrane;Nucleus envelope;Membrane NA PE1 20 +NX_Q9NPF0 282 28991 4.61 1 Cytosol;Cell membrane;Endoplasmic reticulum Methylmalonic aciduria, transient, due to transcobalamin receptor defect PE1 19 +NX_Q9NPF2 352 41555 9.04 1 Golgi apparatus membrane;Golgi apparatus NA PE1 12 +NX_Q9NPF4 335 36427 5.94 0 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane Galloway-Mowat syndrome 3 PE1 14 +NX_Q9NPF5 467 52993 9.51 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 1 +NX_Q9NPF7 189 20730 6.02 0 Cytosol;Secreted NA PE1 12 +NX_Q9NPF8 381 44349 9.44 0 Cytoplasm;Cell membrane NA PE1 17 +NX_Q9NPG1 666 76263 7.94 7 Cell surface;Apical cell membrane;Cell membrane;Membrane NA PE1 8 +NX_Q9NPG2 151 16933 5.42 0 Mitochondrion;Cytoplasm;Perikaryon NA PE1 14 +NX_Q9NPG3 1134 121520 9.37 0 Nucleoplasm;PML body;Nucleus;Tight junction NA PE1 16 +NX_Q9NPG4 1184 128995 5.13 1 Cell junction;Cell membrane;Secreted Microcephaly, seizures, spasticity, and brain calcifications PE1 5 +NX_Q9NPG8 344 39787 7.01 5 Endoplasmic reticulum membrane;Nucleus NA PE1 7 +NX_Q9NPH0 428 48886 6.04 0 Mitochondrion NA PE1 1 +NX_Q9NPH2 558 61068 5.52 0 Cytosol;Cytoplasm;Nucleus NA PE1 19 +NX_Q9NPH3 570 65418 8.37 1 Cytosol;Cytoplasmic vesicle;Cell membrane;Secreted NA PE1 3 +NX_Q9NPH5 578 66932 8.96 6 Endoplasmic reticulum membrane;Focal adhesion;Nucleolus;Nucleus;Cell membrane NA PE1 11 +NX_Q9NPH6 170 19457 8.91 0 Secreted NA PE1 9 +NX_Q9NPH9 171 19843 10 0 Secreted NA PE1 12 +NX_Q9NPI0 162 19262 9.67 4 Cytoskeleton;Vacuole membrane;Cilium Joubert syndrome 16 PE1 11 +NX_Q9NPI1 651 74139 6 0 Nucleoplasm;Cytosol;Nucleus NA PE1 16 +NX_Q9NPI5 230 26046 5.77 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 19 +NX_Q9NPI6 582 63278 5.84 0 Cytosol;P-body;Nucleus NA PE1 3 +NX_Q9NPI7 259 30980 9.35 0 Cytosol;Nucleolus NA PE1 2 +NX_Q9NPI8 374 42254 9.11 0 Nucleus Fanconi anemia complementation group F PE1 11 +NX_Q9NPI9 418 47949 7.98 2 Cytoplasmic vesicle;Basolateral cell membrane;Membrane NA PE1 17 +NX_Q9NPJ1 570 62342 6.67 0 Cytosol;Cytoplasm;Nucleus;Centrosome McKusick-Kaufman syndrome;Bardet-Biedl syndrome 6 PE1 20 +NX_Q9NPJ3 140 14960 9.23 0 Cytosol;Mitochondrion;Spindle;Nucleus;Cell junction NA PE1 6 +NX_Q9NPJ4 139 15591 10.4 0 Nucleoplasm;P-body;Nucleus;Golgi apparatus NA PE1 1 +NX_Q9NPJ6 270 29745 5.02 0 Nucleoplasm;Nucleus NA PE1 13 +NX_Q9NPJ8 142 16228 5.24 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 X +NX_Q9NPL8 285 32178 8.65 4 Mitochondrion;Nucleus;Mitochondrion membrane NA PE1 3 +NX_Q9NPP4 1024 116159 6.32 0 Cytosol;Cytoplasm Familial cold autoinflammatory syndrome 4;Autoinflammation with infantile enterocolitis PE1 2 +NX_Q9NPQ8 531 59710 5.2 0 Cytosol;Cytoplasm;Cell membrane NA PE1 11 +NX_Q9NPR2 832 92193 6.51 1 Membrane NA PE1 15 +NX_Q9NPR9 543 60633 8.88 7 Cytoplasmic vesicle;Golgi apparatus;Membrane NA PE1 19 +NX_Q9NPU4 83 8830 3.8 1 Membrane NA PE2 14 +NX_Q9NPY3 652 68560 5.27 1 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Membrane NA PE1 20 +NX_Q9NPZ5 323 36919 10.63 1 Golgi apparatus membrane NA PE1 6 +NX_Q9NQ03 307 32584 9.39 0 Nucleoplasm;Nucleus NA PE2 20 +NX_Q9NQ11 1180 128794 8.47 12 Lysosome membrane;Lysosome;Membrane Kufor-Rakeb syndrome;Spastic paraplegia 78, autosomal recessive PE1 1 +NX_Q9NQ25 335 37421 6.02 1 Cytoplasmic vesicle;Endoplasmic reticulum;Membrane NA PE1 1 +NX_Q9NQ29 371 43728 9.95 0 Mitochondrion;Nucleus NA PE1 16 +NX_Q9NQ30 184 20095 7.36 0 Secreted NA PE1 5 +NX_Q9NQ31 210 23114 8.31 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q9NQ32 467 51609 8.45 0 NA NA PE2 11 +NX_Q9NQ33 180 20797 8.71 0 Nucleus NA PE2 11 +NX_Q9NQ34 198 22531 8.35 1 Lysosome membrane;Early endosome membrane NA PE1 11 +NX_Q9NQ35 241 26975 8.82 0 Cytosol;Cytoplasm NA PE1 11 +NX_Q9NQ36 999 109957 6.21 0 Cell surface;Secreted NA PE1 11 +NX_Q9NQ38 1064 120714 8.45 0 Cytoplasmic vesicle;Secreted Netherton syndrome PE1 5 +NX_Q9NQ39 176 20120 10.13 0 NA NA PE5 20 +NX_Q9NQ40 469 50805 5.46 11 Cytoplasm;Apical cell membrane;Nucleus membrane;Cell membrane Fazio-Londe disease;Brown-Vialetto-Van Laere syndrome 1 PE1 20 +NX_Q9NQ48 299 34592 5.3 0 Cytosol;Cytoplasm Bardet-Biedl syndrome 17 PE1 3 +NX_Q9NQ50 206 24490 9.62 0 Mitochondrion;Nucleolus NA PE1 22 +NX_Q9NQ55 473 53194 10.13 0 Nucleolus NA PE1 19 +NX_Q9NQ60 294 32840 4.89 1 Acrosome membrane;Acrosome outer membrane;Acrosome inner membrane NA PE1 9 +NX_Q9NQ66 1216 138567 5.9 0 Cytoplasm;Cell membrane;Nucleus membrane Epileptic encephalopathy, early infantile, 12 PE1 20 +NX_Q9NQ69 397 43976 9 0 Nucleus NA PE1 1 +NX_Q9NQ75 786 87144 6.66 0 Focal adhesion;Cytoskeleton NA PE1 20 +NX_Q9NQ76 525 58419 8.62 0 Extracellular matrix NA PE1 4 +NX_Q9NQ79 661 71421 4.95 0 Extracellular matrix NA PE1 10 +NX_Q9NQ84 441 48193 8.72 7 Cytosol;Cytoplasmic vesicle membrane;Nucleus;Cell membrane;Microtubule organizing center NA PE1 17 +NX_Q9NQ86 728 83013 5.77 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Acrosome Anencephaly PE1 5 +NX_Q9NQ87 328 35087 10.69 0 Mitochondrion;Cytosol;Nucleus NA PE1 1 +NX_Q9NQ88 270 30063 7.6 0 Cytosol;Cytoplasm;Mitochondrion;Nucleus NA PE1 12 +NX_Q9NQ89 552 63801 5.94 0 Cytoplasm;Nucleus NA PE1 12 +NX_Q9NQ90 1003 113969 6.12 8 Nucleoplasm;Cell membrane NA PE1 12 +NX_Q9NQ92 184 20066 4.06 0 Cytosol;Nucleus;Cell membrane NA PE1 17 +NX_Q9NQ94 594 65202 8.6 0 Nucleoplasm;Cytoplasm;Nucleus;Endoplasmic reticulum NA PE1 10 +NX_Q9NQA3 447 47990 5.48 0 Early endosome membrane;Recycling endosome membrane NA PE1 X +NX_Q9NQA5 729 82551 6.01 6 Apical cell membrane NA PE1 7 +NX_Q9NQB0 619 67919 8.73 0 Nucleoplasm;PML body;Nucleus Diabetes mellitus, non-insulin-dependent PE1 10 +NX_Q9NQC1 790 87466 5.15 0 Nucleoplasm NA PE1 5 +NX_Q9NQC3 1192 129931 4.43 2 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cell membrane;Nucleus membrane NA PE1 2 +NX_Q9NQC7 956 107316 5.42 0 Nucleoplasm;Cytoplasm;Cell membrane;Centrosome;Perinuclear region;Spindle;Microtubule organizing center;Cytoskeleton;Cilium basal body Cylindromatosis, familial;Brooke-Spiegler syndrome;Multiple familial trichoepithelioma 1 PE1 16 +NX_Q9NQC8 304 34286 4.37 0 Cytoplasm;Cytoskeleton;Cilium;Cilium basal body NA PE1 11 +NX_Q9NQE7 514 55049 8.28 0 Cytoplasmic vesicle NA PE2 6 +NX_Q9NQE9 182 20361 6.12 0 Cytosol;Cytoplasm;Mitochondrion;Nucleolus;Nucleus NA PE1 6 +NX_Q9NQF3 203 22471 6.64 0 NA NA PE2 22 +NX_Q9NQG1 85 9467 9.21 1 Mitochondrion;Nucleus;Membrane NA PE1 20 +NX_Q9NQG5 326 36900 5.73 0 Cytosol;Nucleoplasm;Nucleus;Centrosome NA PE1 20 +NX_Q9NQG6 463 51293 7.55 1 Mitochondrion;Cytoskeleton;Mitochondrion outer membrane NA PE1 22 +NX_Q9NQG7 708 76919 5.26 0 Centrosome Hermansky-Pudlak syndrome 4 PE1 22 +NX_Q9NQH7 507 57034 6.37 0 Mitochondrion;Cytoplasm Nephronophthisis-like nephropathy 1 PE1 22 +NX_Q9NQI0 724 79308 5.62 0 Cytoplasm;Perinuclear region NA PE1 5 +NX_Q9NQL2 400 45588 4.76 0 Nucleoplasm;Cytoplasm;Nucleus;Centrosome;Lysosome NA PE1 6 +NX_Q9NQL9 472 51199 7 0 Nucleus NA PE1 9 +NX_Q9NQM4 214 24069 3.99 0 Cytoplasm Ciliary dyskinesia, primary, 36, X-linked PE1 X +NX_Q9NQN1 319 35172 8.37 7 Cell membrane NA PE2 9 +NX_Q9NQP4 134 15314 4.42 0 Mitochondrion;Cytoplasm;Nucleus NA PE1 20 +NX_Q9NQQ7 365 40432 8.31 8 Nucleoplasm;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus;Membrane NA PE1 20 +NX_Q9NQR1 393 42890 9.69 0 Cytosol;Nucleus;Chromosome NA PE1 12 +NX_Q9NQR4 276 30608 6.83 0 Cytosol;Cytoplasm;Centrosome NA PE1 3 +NX_Q9NQR7 707 79739 10.74 0 NA NA PE1 14 +NX_Q9NQR9 355 40580 8.64 9 Endoplasmic reticulum membrane NA PE1 2 +NX_Q9NQS1 362 38506 4.9 0 Cytoskeleton;Centrosome;Cell membrane;Endomembrane system NA PE1 15 +NX_Q9NQS3 549 61002 5.79 1 Postsynaptic cell membrane;Cell membrane;Microtubule organizing center NA PE1 3 +NX_Q9NQS5 396 43705 9.63 7 Cell membrane NA PE1 12 +NX_Q9NQS7 918 105429 9.46 0 Kinetochore;Centromere;Spindle;Nucleus;Midbody NA PE1 11 +NX_Q9NQT4 235 25249 7.54 0 Cytoplasm;Nucleolus;Nucleus NA PE1 19 +NX_Q9NQT5 275 29572 8.39 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Pontocerebellar hypoplasia 1B PE1 9 +NX_Q9NQT6 498 56624 7.83 0 Cytoskeleton NA PE1 7 +NX_Q9NQT8 1826 202789 5.64 0 Axon;Cytoskeleton NA PE1 8 +NX_Q9NQU5 681 74869 9.57 0 Cytoplasm;Nucleolus;Nucleus;Cell junction NA PE1 15 +NX_Q9NQV5 511 57863 5.85 0 Cytoplasm;Nucleus NA PE1 11 +NX_Q9NQV6 1147 130136 6.27 0 Cytoplasmic vesicle;Nucleoplasm;Nucleolus;Nucleus NA PE1 11 +NX_Q9NQV7 894 103376 9.36 0 Nucleus;Chromosome NA PE1 5 +NX_Q9NQV8 689 71663 8.05 0 Nucleus Epilepsy, progressive myoclonic 10 PE1 4 +NX_Q9NQW1 1179 128697 8.62 0 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Nucleolus;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus NA PE1 10 +NX_Q9NQW5 492 55777 7.99 0 Nucleus speckle;Nucleus;Chromosome NA PE1 16 +NX_Q9NQW6 1124 124199 8.38 0 Nucleoplasm;Cell cortex;Nucleus;Bleb;Cytoskeleton;Midbody Focal segmental glomerulosclerosis 8 PE1 7 +NX_Q9NQW7 623 69918 5.42 0 Cytosol;Cytoplasm NA PE1 10 +NX_Q9NQW8 809 92167 8.06 6 Membrane Stargardt disease 1;Achromatopsia 3 PE1 8 +NX_Q9NQX0 595 64452 7.93 0 Nucleoplasm;Nucleus Patent ductus arteriosus 3 PE1 5 +NX_Q9NQX1 630 73090 9.08 0 Nucleolus;Nucleus Brittle cornea syndrome 2 PE1 4 +NX_Q9NQX3 736 79748 5.25 0 Synapse;Cytosol;Cell membrane;Dendrite;Postsynaptic cell membrane;Postsynaptic density;Cytoskeleton Molybdenum cofactor deficiency, complementation group C PE1 14 +NX_Q9NQX4 1742 202810 7.69 0 Cytosol;Nucleus NA PE1 15 +NX_Q9NQX5 325 34516 6.55 1 Cytosol;Nucleus;Membrane NA PE1 9 +NX_Q9NQX6 463 53739 9.16 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q9NQX7 267 30224 8.16 1 Lysosome membrane;Golgi apparatus;Cell membrane NA PE1 2 +NX_Q9NQY0 253 29665 6.94 0 Cytoskeleton NA PE1 8 +NX_Q9NQZ2 479 54558 5.5 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA PE1 4 +NX_Q9NQZ3 744 82764 9.36 0 Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 PE1 Y +NX_Q9NQZ5 370 43113 9.03 0 Mitochondrion NA PE1 2 +NX_Q9NQZ6 224 26244 6.68 0 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Postsynaptic cell membrane;Nucleus Wieacker-Wolf syndrome PE1 X +NX_Q9NQZ7 604 68960 7.29 2 Nucleoplasm;Cytoplasmic vesicle membrane NA PE1 10 +NX_Q9NQZ8 489 54498 9 0 Nucleolus;Nucleus NA PE1 19 +NX_Q9NR00 106 12337 10.14 0 Nucleus speckle;Nucleolus;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus NA PE1 8 +NX_Q9NR09 4857 530255 5.67 0 Endosome;trans-Golgi network membrane;Golgi apparatus;Midbody ring;Spindle pole;Cytoplasmic vesicle;Spindle;Centrosome NA PE1 2 +NX_Q9NR11 478 54814 9.13 0 Cytoplasmic vesicle;Cytoskeleton;Nucleus NA PE1 19 +NX_Q9NR12 457 49845 8.76 0 Cytoplasm;Cytoskeleton;Focal adhesion NA PE1 5 +NX_Q9NR16 1453 159239 5.44 1 Nucleoplasm;Cytosol;Centrosome;Cell membrane;Secreted NA PE1 12 +NX_Q9NR19 701 78580 6.02 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Cytosol NA PE1 20 +NX_Q9NR20 520 59608 9.03 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 12 +NX_Q9NR21 338 39597 6.86 0 Nuclear pore complex NA PE1 12 +NX_Q9NR22 394 45291 6.47 0 Cell membrane NA PE1 12 +NX_Q9NR23 364 41387 8.2 0 Cytoplasm;Secreted Microphthalmia, isolated, 7;Microphthalmia, isolated, with coloboma, 6;Klippel-Feil syndrome 3, autosomal dominant PE1 12 +NX_Q9NR28 239 27131 5.68 0 Mitochondrion Deafness, autosomal dominant, 64 PE1 12 +NX_Q9NR30 783 87344 9.32 0 Nucleoplasm;Cytosol;Mitochondrion;Nucleolus;Nucleus NA PE1 10 +NX_Q9NR31 198 22367 6.22 0 Endoplasmic reticulum;Golgi apparatus NA PE1 10 +NX_Q9NR33 117 12209 4.87 0 Cytosol;Nucleus NA PE1 2 +NX_Q9NR34 630 70911 7.01 1 Cytoplasmic vesicle;Nucleus;Golgi apparatus membrane NA PE1 1 +NX_Q9NR45 359 40308 6.29 0 Nucleoplasm Spondyloepimetaphyseal dysplasia, Genevieve type PE1 9 +NX_Q9NR46 395 43974 5.72 0 Nucleoplasm;Cytosol;Cytoplasm NA PE1 9 +NX_Q9NR48 2969 332790 9.46 0 Nucleoplasm;Tight junction;Nucleus;Golgi apparatus;Chromosome Mental retardation, autosomal dominant 52 PE1 1 +NX_Q9NR50 452 50240 6.08 0 Cytosol;Cytoplasm;Cytoplasmic vesicle Leukodystrophy with vanishing white matter PE1 1 +NX_Q9NR55 127 14468 9.12 0 Nucleus NA PE1 1 +NX_Q9NR56 388 41817 9.16 0 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Cytoplasmic granule Dystrophia myotonica 1;Corneal dystrophy, Fuchs endothelial, 3 PE1 3 +NX_Q9NR61 685 74605 6.51 1 Cell membrane Adams-Oliver syndrome 6 PE1 15 +NX_Q9NR63 512 57513 8.68 0 Endoplasmic reticulum membrane;Cytosol;Microsome membrane Radiohumeral fusions with other skeletal and craniofacial anomalies PE1 2 +NX_Q9NR64 748 82680 5.95 0 Cytoskeleton NA PE2 13 +NX_Q9NR71 780 85516 6.77 1 Cell membrane NA PE1 10 +NX_Q9NR77 195 22253 10.58 4 Peroxisome membrane NA PE1 12 +NX_Q9NR80 690 79067 6.55 0 Cytoplasm;Ruffle membrane NA PE1 2 +NX_Q9NR81 526 59783 6.03 0 Cytosol;Cytoplasm;Nucleus NA PE1 3 +NX_Q9NR82 932 102179 9.55 6 Cytoplasmic vesicle;Cell membrane Mental retardation, autosomal dominant 46 PE1 6 +NX_Q9NR83 387 41267 8.57 0 Nucleus speckle;Nucleus;Cytoplasm NA PE1 20 +NX_Q9NR90 486 54989 8.9 0 Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 PE1 Y +NX_Q9NR96 1032 115860 8.55 1 Endoplasmic reticulum membrane;Endosome;Phagosome;Lysosome NA PE1 3 +NX_Q9NR97 1041 119828 6.2 1 Membrane NA PE1 X +NX_Q9NR99 2828 312150 8.57 0 Mitochondrion;Secreted Lung cancer PE1 X +NX_Q9NRA0 654 69217 6.47 0 Cytoplasmic vesicle;Cytoplasm;Lysosome membrane;Membrane NA PE1 19 +NX_Q9NRA1 345 39029 5.77 0 Cytosol;Cytoplasmic granule;Nucleus;Cell membrane;Secreted NA PE1 4 +NX_Q9NRA2 495 54640 8.51 12 Cytosol;Synaptic vesicle membrane;Lysosome membrane;Cell membrane Infantile sialic acid storage disorder;Salla disease PE1 6 +NX_Q9NRA8 985 108201 8.45 0 Cytoplasmic vesicle;PML body;Cytoplasm;Nucleus;Nucleus speckle NA PE1 22 +NX_Q9NRB3 414 48414 9.37 1 Golgi apparatus membrane;Golgi apparatus NA PE1 7 +NX_Q9NRC1 585 67166 6.82 3 Cytosol;Nucleoplasm;Membrane NA PE1 7 +NX_Q9NRC6 3674 416750 6.21 0 Cytoskeleton NA PE1 15 +NX_Q9NRC8 400 44898 9.8 0 Cytoplasmic vesicle;Cytoplasm;Nucleolus NA PE1 17 +NX_Q9NRC9 128 14332 4.87 0 Secreted NA PE1 20 +NX_Q9NRD0 319 37068 7.62 0 Nucleoplasm;Cytosol NA PE2 4 +NX_Q9NRD1 293 33933 5.73 0 Cytoplasm NA PE1 1 +NX_Q9NRD5 415 46600 5.17 0 Synaptosome;Cytosol;Perinuclear region;Membrane;Mitochondrion;Postsynaptic density;Cytoskeleton NA PE1 22 +NX_Q9NRD8 1548 175364 8.02 7 Apical cell membrane;Cell junction Thyroid dyshormonogenesis 6 PE1 15 +NX_Q9NRD9 1551 177235 8.12 7 Apical cell membrane NA PE1 15 +NX_Q9NRE1 261 29708 5.96 0 Extracellular matrix NA PE2 11 +NX_Q9NRE2 1034 115005 8 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 20 +NX_Q9NRF2 756 79366 5.26 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Membrane NA PE1 16 +NX_Q9NRF8 586 65678 6.46 0 Cytosol;Nucleoplasm NA PE1 X +NX_Q9NRF9 147 16860 4.68 0 Nucleolus;Nucleus NA PE1 9 +NX_Q9NRG0 131 14711 4.99 0 Nucleus NA PE1 8 +NX_Q9NRG1 225 25674 5.76 0 Nucleoplasm;Cytosol;Golgi apparatus NA PE1 10 +NX_Q9NRG4 433 49688 6.27 0 Cytosol;Mitochondrion;Cytoskeleton;Nucleus NA PE1 1 +NX_Q9NRG7 319 34748 9.79 0 Cytosol;Nucleoplasm NA PE1 14 +NX_Q9NRG9 546 59574 7.26 0 Cytosol;Nuclear pore complex;Centrosome;Nucleus membrane Achalasia-addisonianism-alacrima syndrome PE1 12 +NX_Q9NRH1 226 25299 5.35 0 Cytosol;Cytoplasm;Nucleus NA PE1 7 +NX_Q9NRH2 765 84276 6.62 0 Cytoplasmic vesicle;Nucleus;Cell junction;Cell membrane NA PE1 3 +NX_Q9NRH3 451 51092 5.5 0 Centrosome;Microtubule organizing center NA PE1 17 +NX_Q9NRI5 854 93611 5.96 0 Mitochondrion;Cytoplasm;Cytoskeleton;Centrosome;Postsynaptic density Schizophrenia 9 PE1 1 +NX_Q9NRI6 33 3432 3.92 0 Secreted NA PE5 17 +NX_Q9NRI7 21 2179 7.74 0 NA NA PE5 17 +NX_Q9NRJ1 99 11219 8.59 0 Endoplasmic reticulum membrane;Microsome membrane;Cytoplasm NA PE1 8 +NX_Q9NRJ2 163 17657 10.93 0 NA NA PE5 9 +NX_Q9NRJ3 127 14280 10.23 0 Secreted NA PE1 5 +NX_Q9NRJ4 1543 169000 7.49 0 Cytoplasm NA PE1 6 +NX_Q9NRJ5 636 71681 6.02 0 Nucleus NA PE1 7 +NX_Q9NRJ7 776 84983 5 1 Cytoplasmic vesicle;Cell membrane;Membrane NA PE1 5 +NX_Q9NRK6 738 79148 9.87 5 Mitochondrion inner membrane NA PE1 1 +NX_Q9NRL2 1556 178702 6.2 0 Nucleus;Endoplasmic reticulum NA PE1 14 +NX_Q9NRL3 753 80596 5.21 0 Cytosol;Cytoplasm;Dendritic spine;Membrane NA PE1 19 +NX_Q9NRM0 540 58702 9.09 12 Apical cell membrane;Basolateral cell membrane Hypouricemia renal 2 PE1 4 +NX_Q9NRM1 1142 128785 6.36 0 Extracellular matrix Amelogenesis imperfecta 1C;Amelogenesis imperfecta 1B PE1 4 +NX_Q9NRM2 450 52788 5.19 0 Nucleoplasm;Nucleus;Cell membrane NA PE1 7 +NX_Q9NRM6 502 55885 8.44 1 Cell membrane;Secreted NA PE1 3 +NX_Q9NRM7 1088 120136 8.44 0 Cytosol;Cytoplasm;Microtubule organizing center;Nucleus;Centrosome;Spindle pole NA PE1 13 +NX_Q9NRN5 406 46010 6.17 0 Cytoplasmic vesicle;Secreted NA PE1 1 +NX_Q9NRN7 309 35776 6.35 0 Cytoplasm NA PE1 11 +NX_Q9NRN9 209 23719 6.23 0 Cytosol;Nucleolus NA PE1 2 +NX_Q9NRP0 149 16829 9.23 3 Nucleoplasm;Endoplasmic reticulum;Membrane NA PE1 4 +NX_Q9NRP2 79 9460 7.73 0 Mitochondrion NA PE1 16 +NX_Q9NRP4 125 14652 9.13 0 Mitochondrion;Mitochondrion matrix;Cytoskeleton NA PE1 7 +NX_Q9NRP7 1315 143995 5.57 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q9NRQ2 329 37005 5.53 1 Nucleoplasm;Nucleus;Membrane NA PE1 3 +NX_Q9NRQ5 59 6738 10.28 1 Membrane NA PE1 11 +NX_Q9NRR1 136 15577 8.81 0 Nucleus membrane;Endoplasmic reticulum;Secreted NA PE1 4 +NX_Q9NRR2 321 33815 6.69 1 Membrane NA PE2 16 +NX_Q9NRR3 84 9223 8.61 0 Cytoskeleton;Phagocytic cup;Cell membrane NA PE1 5 +NX_Q9NRR4 1374 159316 8 0 Nucleolus;Nucleus NA PE1 5 +NX_Q9NRR5 601 63853 5.14 0 Cytoplasm;Perinuclear region;Nucleus;Autophagosome;Endoplasmic reticulum NA PE1 1 +NX_Q9NRR6 644 70205 9.16 0 Cytoplasm;Ruffle;Cell membrane;Cilium axoneme;Golgi stack membrane Joubert syndrome 1;Mental retardation, truncal obesity, retinal dystrophy, and micropenis PE1 9 +NX_Q9NRR8 79 8925 10.03 0 Cytoskeleton;Cell membrane NA PE1 1 +NX_Q9NRS4 437 48246 5.2 1 Nucleoplasm;Cytosol;Membrane NA PE1 11 +NX_Q9NRS6 342 38291 5.09 0 Cytosol;Cytoplasm;Cytoplasmic vesicle membrane;Nucleolus;Membrane NA PE1 11 +NX_Q9NRU3 951 104351 5.91 4 Cytosol;Cell membrane NA PE1 10 +NX_Q9NRV9 189 21097 5.71 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 12 +NX_Q9NRW1 208 23462 5.41 0 Cytoplasmic vesicle;Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus membrane NA PE1 3 +NX_Q9NRW3 190 22826 7.52 0 Cytoplasm;Cytoskeleton;Nucleus NA PE1 22 +NX_Q9NRW4 184 20910 8.28 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA PE1 6 +NX_Q9NRW7 570 65077 8.41 0 Endosome membrane;Cytoskeleton;Golgi apparatus membrane Neutropenia, severe congenital 5, autosomal recessive PE1 1 +NX_Q9NRX1 252 27924 9.75 0 Nucleolus;Nucleus NA PE1 2 +NX_Q9NRX2 175 20050 10.12 0 Mitochondrion;Cytoplasmic vesicle;Nucleolus;Golgi apparatus NA PE1 11 +NX_Q9NRX3 87 9966 9.94 0 NA NA PE1 12 +NX_Q9NRX4 125 13833 5.65 0 Cytosol;Cytoplasm;Nucleus NA PE1 9 +NX_Q9NRX5 453 50495 5.59 10 Endoplasmic reticulum membrane;Cytosol NA PE1 6 +NX_Q9NRX6 74 8294 9.67 1 Golgi apparatus membrane NA PE1 1 +NX_Q9NRY2 104 11425 9.22 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q9NRY4 1499 170514 6.2 0 Cytoplasm;Nucleus;Cell membrane;Cilium basal body NA PE1 19 +NX_Q9NRY5 505 55468 4.85 0 Cytoplasmic vesicle NA PE1 5 +NX_Q9NRY6 295 31648 6.22 1 Mitochondrion;Mitochondrion membrane NA PE1 17 +NX_Q9NRY7 297 33504 6.69 1 Nucleus;Membrane NA PE1 3 +NX_Q9NRZ5 378 44021 8.95 4 Cytoplasmic vesicle;Nucleolus;Golgi apparatus;Membrane NA PE1 6 +NX_Q9NRZ7 376 43381 8.96 2 Endoplasmic reticulum membrane;Nucleus envelope NA PE1 21 +NX_Q9NRZ9 838 97074 8.07 0 Cytoplasmic vesicle;Nucleus;Golgi apparatus Immunodeficiency-centromeric instability-facial anomalies syndrome 4 PE1 10 +NX_Q9NS00 363 42203 6.17 1 Cytosol;Nucleus;Membrane NA PE1 7 +NX_Q9NS15 1303 139359 5.71 0 Nucleoplasm;Extracellular matrix;Secreted Dental anomalies and short stature;Geleophysic dysplasia 3 PE1 11 +NX_Q9NS18 164 18052 9.25 0 Mitochondrion;Nucleoplasm;Nucleus NA PE1 1 +NX_Q9NS23 344 39219 9.2 0 Spindle;Cytoskeleton;Nucleus;Centrosome;Spindle pole NA PE1 3 +NX_Q9NS25 103 11840 5.92 0 Cytoplasm;Nucleus NA PE1 X +NX_Q9NS26 97 11038 5.05 0 Cytoplasm;Nucleus NA PE1 X +NX_Q9NS28 235 27582 7.73 0 Cytoplasm;Golgi apparatus NA PE1 1 +NX_Q9NS37 354 37134 5.12 0 Mitochondrion;Nucleus NA PE1 11 +NX_Q9NS39 739 80621 10.19 0 Nucleus NA PE1 10 +NX_Q9NS40 1196 135000 7.57 6 Membrane NA PE1 2 +NX_Q9NS56 1045 119198 9.56 0 Nucleoplasm;PML body;Nucleus Retinitis pigmentosa 31 PE1 9 +NX_Q9NS61 270 30907 4.97 0 Cytoplasm;Nucleus;Cell membrane NA PE1 10 +NX_Q9NS62 852 94584 8.33 1 Cytosol;Secreted;Membrane NA PE1 13 +NX_Q9NS64 109 11774 4.79 1 Cytoplasm;Membrane NA PE1 2 +NX_Q9NS66 373 41481 9.36 7 Cytosol;Cell membrane NA PE2 X +NX_Q9NS67 375 39818 9.3 7 Nucleoplasm;Cytosol;Cytoskeleton;Cell membrane NA PE2 3 +NX_Q9NS68 423 46015 5.28 1 Nucleoplasm;Mitochondrion;Membrane NA PE1 13 +NX_Q9NS69 142 15522 4.27 1 Mitochondrion;Mitochondrion outer membrane NA PE1 22 +NX_Q9NS71 199 21999 5.9 0 Secreted NA PE1 2 +NX_Q9NS73 344 39281 6.78 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 14 +NX_Q9NS75 346 39635 9.63 7 Cell membrane NA PE1 13 +NX_Q9NS82 523 56798 8.51 9 Nucleolus;Nucleus;Membrane NA PE1 19 +NX_Q9NS84 486 54266 9.72 1 Golgi apparatus membrane NA PE1 X +NX_Q9NS85 328 37563 8.22 0 Cytoplasmic vesicle NA PE1 17 +NX_Q9NS86 450 50854 7.18 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 7 +NX_Q9NS87 1388 160160 5.75 0 Cytoplasm;Spindle NA PE1 3 +NX_Q9NS91 495 56223 7.51 0 Nucleoplasm;Nucleus;Centrosome NA PE1 3 +NX_Q9NS93 570 64166 6.56 7 Cytosol;Nucleus;Cell membrane NA PE1 12 +NX_Q9NS98 782 86701 7.97 0 Secreted NA PE1 3 +NX_Q9NSA0 550 59972 8.96 12 Cell membrane NA PE1 11 +NX_Q9NSA1 209 22300 5.01 0 Secreted NA PE1 19 +NX_Q9NSA2 647 71330 8.79 6 Dendrite;Nucleus;Membrane NA PE1 X +NX_Q9NSA3 81 9170 5.33 0 Mitochondrion;Cytoplasm;Nucleus;Cell junction;Cell membrane NA PE1 1 +NX_Q9NSB2 600 64842 7.74 0 NA NA PE1 12 +NX_Q9NSB4 513 56653 6.4 0 NA NA PE1 12 +NX_Q9NSB8 354 40627 6.03 0 Cytoplasm;Synapse;Stereocilium;Postsynaptic density Deafness, autosomal dominant, 68 PE1 15 +NX_Q9NSC2 1324 140405 6.57 0 Cytosol;Nucleus Townes-Brocks syndrome 1 PE1 16 +NX_Q9NSC5 361 39836 5.39 0 Cytosol;Cytoplasm;Synapse;Cell membrane;Postsynaptic density NA PE1 19 +NX_Q9NSC7 600 68564 9.93 1 Golgi apparatus membrane NA PE1 17 +NX_Q9NSD4 429 48443 9.33 0 Nucleolus;Nucleus NA PE1 X +NX_Q9NSD5 602 68009 7.36 12 Cytosol;Mitochondrion;Nucleolus;Nucleus;Cell membrane NA PE1 12 +NX_Q9NSD7 469 51124 9.07 7 Cell membrane NA PE1 5 +NX_Q9NSD9 589 66116 6.39 0 Cytosol;Cytoplasm;Nucleus Neurodevelopmental disorder with brain, liver, and lung abnormalities PE1 2 +NX_Q9NSE2 258 28663 6.52 0 Cytoskeleton NA PE1 3 +NX_Q9NSE4 1012 113792 6.78 0 Mitochondrion matrix;Mitochondrion Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia PE1 1 +NX_Q9NSG2 853 96554 5.64 0 Mitochondrion NA PE1 1 +NX_Q9NSI2 230 25456 11.07 0 Cytoplasmic vesicle;Golgi apparatus NA PE1 21 +NX_Q9NSI5 407 44593 8.14 1 Apical cell membrane;Tight junction NA PE2 21 +NX_Q9NSI6 2320 262936 8.73 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 21 +NX_Q9NSI8 373 41708 5.28 0 Cytoplasm;Nucleus;Ruffle;Cell membrane NA PE1 21 +NX_Q9NSJ1 428 49689 8.9 0 Nucleus NA PE5 21 +NX_Q9NSK0 619 68640 5.82 0 Cytosol;Mitochondrion;Cytoskeleton NA PE1 6 +NX_Q9NSK7 152 16286 6.83 1 Mitochondrion;Cytosol;Mitochondrion membrane;Endoplasmic reticulum Spastic paraplegia 43, autosomal recessive;Neurodegeneration with brain iron accumulation 4 PE1 19 +NX_Q9NSN8 517 57969 6.24 0 Cytoskeleton;Nucleus NA PE1 8 +NX_Q9NSP4 180 19737 6.7 0 Cytosol;Kinetochore;Nucleus;Cytoplasm NA PE1 22 +NX_Q9NSQ0 103 12575 9.73 0 NA NA PE5 22 +NX_Q9NST1 481 52865 6.27 1 Cytosol;Mitochondrion;Lipid droplet;Nucleolus;Membrane Non-alcoholic fatty liver disease 1 PE1 22 +NX_Q9NSU2 314 33212 8.12 0 Cytosol;Endoplasmic reticulum membrane;Nucleus Systemic lupus erythematosus;Vasculopathy, retinal, with cerebral leukodystrophy;Aicardi-Goutieres syndrome 1;Chilblain lupus 1 PE1 3 +NX_Q9NSV4 1193 136926 6.64 0 Cytoplasm;Cytoskeleton;Nucleus;Cell membrane Auditory neuropathy, autosomal dominant, 1 PE1 13 +NX_Q9NSY0 501 57803 6.05 0 Cytosol;Cytoplasm NA PE1 8 +NX_Q9NSY1 1161 129172 6.05 0 Nucleus speckle;Nucleus NA PE1 4 +NX_Q9NSY2 213 23794 6.22 0 Cytosol;Cytoplasmic vesicle NA PE1 15 +NX_Q9NT22 766 82647 7.84 0 Extracellular matrix NA PE1 20 +NX_Q9NT62 314 35864 4.66 0 Cytosol;Cytoplasm;Cell membrane NA PE1 3 +NX_Q9NT68 2774 307787 6.23 1 Synaptosome;Synapse;Nucleolus;Dendritic spine;Golgi apparatus;PML body;Endoplasmic reticulum;Postsynaptic cell membrane;Cell membrane;Filopodium;Growth cone NA PE1 5 +NX_Q9NT99 713 76434 6.8 1 Presynaptic cell membrane;Membrane NA PE1 19 +NX_Q9NTG1 2253 255449 9.26 11 Membrane NA PE2 22 +NX_Q9NTG7 399 43573 8.98 0 Mitochondrion matrix NA PE1 11 +NX_Q9NTI2 1188 133599 8.41 10 Endosome;Photoreceptor outer segment;Golgi apparatus;Nucleoplasm;Cell membrane;Membrane Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 PE1 13 +NX_Q9NTI5 1447 164667 8.67 0 Nucleoplasm;Nucleus NA PE1 13 +NX_Q9NTI7 297 32759 8.92 0 Nucleus NA PE1 1 +NX_Q9NTJ3 1288 147182 6.37 0 Cytosol;Nucleus speckle;Nucleus;Chromosome;Cytoplasm NA PE1 3 +NX_Q9NTJ4 1040 115835 6.1 0 Nucleoplasm;Cytoplasm NA PE1 15 +NX_Q9NTJ5 587 66967 6.66 3 Nucleoplasm;Endoplasmic reticulum membrane;Golgi apparatus NA PE1 3 +NX_Q9NTK1 212 23406 10.68 0 Cytoplasmic vesicle;Mitochondrion;Cytoplasm;Nucleus;Peroxisome NA PE1 10 +NX_Q9NTK5 396 44744 7.64 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 2 +NX_Q9NTM9 273 29341 8.47 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 10 +NX_Q9NTN3 355 39240 9.06 8 Endoplasmic reticulum membrane;Cytoplasm Schneckenbecken dysplasia PE1 1 +NX_Q9NTN9 838 91497 8.1 1 Cytoplasmic vesicle;Lipid droplet;Cell membrane NA PE1 10 +NX_Q9NTQ9 266 30419 8.4 4 Gap junction;Cell junction;Cell membrane Erythrokeratodermia variabilis et progressiva 2 PE1 1 +NX_Q9NTU4 200 22839 5.8 0 Nucleoplasm;Cytoplasm;Flagellum membrane NA PE1 11 +NX_Q9NTU7 201 21808 8.85 0 Synapse;Midbody ring;Secreted NA PE1 20 +NX_Q9NTW7 645 72217 8.8 0 Nucleus NA PE1 20 +NX_Q9NTX5 307 33698 8.32 0 Cytoplasmic vesicle;Cytosol NA PE1 6 +NX_Q9NTX7 359 38950 5.17 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Cell membrane NA PE1 6 +NX_Q9NTX9 383 42052 9.76 0 Nucleoplasm NA PE1 20 +NX_Q9NTZ6 932 97395 8.74 0 Nucleoplasm;Nucleus Schizophrenia 19 PE1 20 +NX_Q9NU02 776 86664 8.51 0 Cytosol;Nucleolus;Cell membrane NA PE1 20 +NX_Q9NU19 505 59081 6.94 0 Nucleoplasm;Cytosol NA PE1 6 +NX_Q9NU22 5596 632820 5.46 0 Nucleolus;Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Cytoskeleton NA PE1 6 +NX_Q9NU23 88 10449 10.46 0 Cytosol;Cytoplasm NA PE1 6 +NX_Q9NU39 408 43610 9.36 0 Nucleus NA PE2 2 +NX_Q9NU53 330 36840 4.81 1 Nucleolus;Cell membrane;Membrane NA PE1 6 +NX_Q9NU63 452 51919 9.34 0 Nucleus Transient neonatal diabetes mellitus 1 PE1 6 +NX_Q9NUA8 1239 138118 6.11 0 Nucleus NA PE1 1 +NX_Q9NUB1 689 74857 6.66 0 Mitochondrion matrix NA PE1 20 +NX_Q9NUB4 165 17394 7.8 1 Membrane NA PE2 20 +NX_Q9NUC0 356 39348 6.27 0 Nucleoplasm NA PE1 1 +NX_Q9NUD5 403 43547 8.86 0 Cytoplasmic vesicle NA PE1 20 +NX_Q9NUD7 363 42859 8.81 0 Nucleus;Golgi apparatus NA PE1 20 +NX_Q9NUD9 493 55713 8.2 10 Endoplasmic reticulum membrane;Cytosol;Endoplasmic reticulum Hyperphosphatasia with mental retardation syndrome 1 PE1 1 +NX_Q9NUE0 388 42031 9.33 4 Cytoskeleton;Membrane NA PE1 1 +NX_Q9NUG4 571 62179 5.62 0 Nucleoplasm NA PE1 20 +NX_Q9NUG6 133 15511 5.81 0 Cytoplasm;Cytoskeleton NA PE1 20 +NX_Q9NUH8 114 12078 9.57 4 Membrane NA PE1 6 +NX_Q9NUI1 292 30778 9.38 0 Peroxisome NA PE1 16 +NX_Q9NUJ1 306 33933 8.81 0 Mitochondrion NA PE1 3 +NX_Q9NUJ3 509 57035 5.41 0 Cytosol NA PE1 11 +NX_Q9NUJ7 323 36668 6.11 0 Cytosol;Cytoplasm NA PE1 X +NX_Q9NUK0 354 38532 9.13 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Golgi apparatus NA PE1 X +NX_Q9NUL3 570 62608 9.62 0 Nucleolus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleoplasm;Nucleus NA PE1 8 +NX_Q9NUL5 291 33110 6.86 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 19 +NX_Q9NUL7 540 59581 10.43 0 Mitochondrion nucleoid;Nucleolus;Cytosol;Mitochondrion matrix;Nucleus;Mitochondrion NA PE1 16 +NX_Q9NUM3 307 32251 6.21 8 Endoplasmic reticulum;Membrane NA PE1 14 +NX_Q9NUM4 274 31127 6.52 1 Lysosome membrane;Late endosome membrane;Endosome;Lysosome;Membrane Ubiquitin-positive frontotemporal dementia;Leukodystrophy, hypomyelinating, 16;Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PE1 7 +NX_Q9NUN5 540 61389 7.89 9 Lysosome membrane Methylmalonic aciduria and homocystinuria, cblF type PE1 6 +NX_Q9NUN7 267 31552 8.87 7 Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE1 11 +NX_Q9NUP1 217 23351 4.9 0 Cytoplasmic vesicle;Cytoplasm;Cytosol NA PE1 4 +NX_Q9NUP7 481 54247 8.36 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA PE1 1 +NX_Q9NUP9 197 21834 8.52 0 Synaptosome;Basolateral cell membrane;Cell membrane;Postsynaptic density;Cell junction;Tight junction NA PE1 11 +NX_Q9NUQ2 364 42072 9.18 3 Mitochondrion;Endoplasmic reticulum membrane;Nucleus envelope NA PE1 8 +NX_Q9NUQ3 528 60586 7.23 0 Cytosol;Nucleus membrane NA PE1 X +NX_Q9NUQ6 558 61729 9.67 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA PE1 2 +NX_Q9NUQ7 469 53261 6.52 0 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum Spondyloepimetaphyseal dysplasia, Di Rocco type;Beukes familial hip dysplasia PE1 4 +NX_Q9NUQ8 709 79745 5.95 0 Cytosol;Nucleolus NA PE1 3 +NX_Q9NUQ9 324 36748 5.76 0 Cytosol;Nucleus;Membrane NA PE1 8 +NX_Q9NUR3 256 27551 6.97 2 Nucleoplasm;Golgi apparatus;Membrane NA PE1 20 +NX_Q9NUS5 200 22522 6.38 0 Cytosol;Nucleoplasm;Lysosome membrane;Late endosome membrane NA PE1 20 +NX_Q9NUT2 735 79989 9.21 5 Mitochondrion;Nucleus;Mitochondrion inner membrane NA PE1 7 +NX_Q9NUU6 356 42196 9.36 0 Cytosol;Nucleolus NA PE1 5 +NX_Q9NUU7 478 53975 6.2 0 Cytoplasm;Nuclear pore complex;Nucleus membrane NA PE1 16 +NX_Q9NUV7 552 62049 8.9 1 Endoplasmic reticulum membrane;Cytoskeleton NA PE1 20 +NX_Q9NUV9 329 37534 7.66 0 Cytosol NA PE1 7 +NX_Q9NUW8 608 68420 7.34 0 Cytoplasm;Nucleus;Cell membrane Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy PE1 14 +NX_Q9NUX5 634 71442 6.26 0 Nucleus;Telomere Glioma 9;Melanoma, cutaneous malignant 10 PE1 7 +NX_Q9NUY8 699 78322 5.23 0 Cytoplasmic vesicle;Golgi apparatus;trans-Golgi network Pontocerebellar hypoplasia 11 PE1 3 +NX_Q9NUZ1 547 61795 8.78 0 Cytosol;Nucleolus NA PE2 2 +NX_Q9NV06 445 51402 9.3 0 Cytosol;Nucleolus;Nucleus;Centrosome;Cell junction NA PE1 8 +NX_Q9NV12 185 20419 7.62 4 Membrane NA PE1 7 +NX_Q9NV23 265 29931 5.81 0 Cytosol NA PE1 10 +NX_Q9NV29 134 14386 9.55 2 Perikaryon;Nucleoplasm;Endoplasmic reticulum;Perinuclear region;Cell membrane;Membrane NA PE1 17 +NX_Q9NV31 184 21850 9.54 0 Nucleolus;Nucleus NA PE1 15 +NX_Q9NV35 164 18609 5.75 0 Nucleoplasm NA PE1 13 +NX_Q9NV39 138 14718 12.42 0 NA NA PE1 22 +NX_Q9NV44 126 13706 7.06 0 NA NA PE5 21 +NX_Q9NV56 204 22417 5.57 0 Nucleus NA PE1 20 +NX_Q9NV58 838 90696 6.59 2 Centrosome;Membrane NA PE1 8 +NX_Q9NV64 488 55667 9.01 8 Cytoplasmic vesicle;Nucleoplasm;Membrane NA PE1 3 +NX_Q9NV66 732 83702 6.42 0 NA NA PE1 7 +NX_Q9NV70 894 101982 6.17 0 Cytosol;Cytoplasm;Midbody ring;Cell membrane;Perinuclear region;Cytoskeleton NA PE1 4 +NX_Q9NV72 531 60903 9.41 0 Nucleoplasm;Nucleus;Microtubule organizing center NA PE1 19 +NX_Q9NV79 361 41072 5.8 0 Nucleoplasm;Cytoplasm;Mitochondrion NA PE1 20 +NX_Q9NV88 658 73814 5.9 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q9NV92 336 36390 4.99 3 Endosome membrane;Cytoplasmic vesicle;Golgi apparatus membrane;Multivesicular body membrane NA PE1 13 +NX_Q9NV96 361 40684 8.81 2 Apical cell membrane;Golgi apparatus;Cell membrane;Membrane;Mitochondrion;Secretory vesicle membrane NA PE1 6 +NX_Q9NVA1 299 34600 9.1 0 Cytoplasmic vesicle;Nucleoplasm;Cytoskeleton;Mitochondrion inner membrane;Cell membrane NA PE1 20 +NX_Q9NVA2 429 49398 6.36 0 Synapse;Cytoplasm;Cell membrane;Axon;Dendritic spine;Cytoskeleton NA PE1 4 +NX_Q9NVA4 438 50142 5.85 7 Cytoplasmic vesicle;Nucleoplasm;Membrane NA PE1 4 +NX_Q9NVC3 462 49966 4.98 11 Cytosol;Nucleoplasm;Endosome;Cell membrane;Membrane NA PE1 16 +NX_Q9NVC6 651 72890 7.05 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus Microcephaly, postnatal progressive, with seizures and brain atrophy PE1 11 +NX_Q9NVD3 440 50416 8.53 0 Nucleus speckle NA PE1 21 +NX_Q9NVD7 372 42244 5.69 0 Cytosol;Cytoskeleton;Focal adhesion;Z line;Cell membrane NA PE1 11 +NX_Q9NVE4 849 96402 8.74 0 NA NA PE1 11 +NX_Q9NVE5 1235 140130 5.46 0 Cytoplasmic vesicle NA PE1 2 +NX_Q9NVE7 773 85991 5.88 0 Cytosol;Cytoplasm NA PE1 1 +NX_Q9NVF7 368 41149 9.59 0 Kinetochore;Focal adhesion;Nucleus NA PE1 1 +NX_Q9NVF9 386 44781 6.94 0 NA NA PE1 1 +NX_Q9NVG8 400 46554 5.11 0 Cytoplasm;Nucleolus;Membrane NA PE1 9 +NX_Q9NVH0 621 70353 8.63 0 Mitochondrion;Cytoskeleton;Nucleus NA PE1 14 +NX_Q9NVH1 559 63278 8.54 0 Mitochondrion;Cytosol;Mitochondrion outer membrane NA PE1 1 +NX_Q9NVH2 962 106834 8.3 0 Cytoplasm;Nucleus;Centrosome;Chromosome NA PE1 1 +NX_Q9NVH6 421 49518 7.64 0 Mitochondrion;Mitochondrion matrix Autism, X-linked 6 PE1 X +NX_Q9NVI1 1328 149324 6.31 0 Nucleoplasm;Nucleus Fanconi anemia complementation group I PE1 15 +NX_Q9NVI7 634 71369 9.08 1 Mitochondrion nucleoid;Mitochondrion inner membrane Harel-Yoon syndrome PE1 1 +NX_Q9NVJ2 186 21539 8.67 0 Late endosome membrane;Spindle;Lysosome membrane NA PE1 3 +NX_Q9NVK5 253 29426 5.69 0 Mitochondrion;Cytoplasm NA PE1 12 +NX_Q9NVL1 165 18454 8.51 0 NA NA PE1 11 +NX_Q9NVL8 296 34690 9.28 0 Cytosol;Nucleus NA PE1 14 +NX_Q9NVM1 165 18374 4.62 1 Cytosol;Membrane NA PE1 1 +NX_Q9NVM4 692 78459 5.33 0 Nucleoplasm;Cytosol;Nucleolus;Nucleus Short stature, brachydactyly, intellectual developmental disability, and seizures PE1 16 +NX_Q9NVM6 304 34687 8.61 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 15 +NX_Q9NVM9 706 80225 6.24 0 Cytoplasm;Nucleus NA PE1 12 +NX_Q9NVN3 520 58825 5.52 0 Cytosol;Cell cortex;Centrosome NA PE1 12 +NX_Q9NVN8 582 65573 8.68 0 Cytosol;Nucleolus;Nucleus NA PE1 X +NX_Q9NVP1 670 75407 9.52 0 Nucleolus;Nucleus;Chromosome NA PE1 2 +NX_Q9NVP2 202 22434 4.46 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q9NVP4 752 82192 8.44 0 Nucleolus NA PE1 20 +NX_Q9NVQ4 179 20215 5.55 0 Cytosol;Cytoplasm;Cell membrane NA PE1 3 +NX_Q9NVR0 708 80148 5.78 0 NA NA PE1 17 +NX_Q9NVR2 710 82236 7.24 0 Cytosol;Nucleoplasm;Nucleus NA PE1 8 +NX_Q9NVR5 837 91114 5.1 0 Cytosol;Cytoplasm Ciliary dyskinesia, primary, 10 PE1 14 +NX_Q9NVR7 557 63530 8.93 0 Spindle pole;Centrosome NA PE1 3 +NX_Q9NVS2 196 22184 10.35 0 Mitochondrion NA PE1 6 +NX_Q9NVS9 261 29988 6.61 0 Cytosol;Nucleoplasm Pyridoxine-5'-phosphate oxidase deficiency PE1 17 +NX_Q9NVT9 282 31281 5.54 0 Mitochondrion NA PE1 8 +NX_Q9NVU0 708 79898 6.05 0 Nucleoplasm;Nucleus NA PE1 16 +NX_Q9NVU7 687 79871 9.29 0 Nucleolus;Nucleus NA PE1 4 +NX_Q9NVV0 291 32510 9.16 7 Endoplasmic reticulum membrane Osteogenesis imperfecta 14 PE1 9 +NX_Q9NVV2 129 13750 12 0 Cytosol;Nucleus NA PE1 19 +NX_Q9NVV4 582 66172 9.24 0 Mitochondrion;Cytoplasm Spastic ataxia 4, autosomal recessive PE1 10 +NX_Q9NVV5 245 28222 8.49 6 Golgi apparatus;Membrane NA PE1 6 +NX_Q9NVV9 213 24944 8.66 0 Nucleoplasm;PML body;Nucleus Dystonia 6, torsion PE1 8 +NX_Q9NVW2 624 68549 7.2 0 Nucleoplasm;Cytosol;Nucleus Mental retardation, X-linked 61 PE1 X +NX_Q9NVX0 235 26933 7.74 0 Nucleoplasm;Cytosol;Spindle;Centrosome NA PE1 15 +NX_Q9NVX2 485 53320 6.92 0 Nucleolus;Nucleus NA PE1 17 +NX_Q9NVX7 518 58144 5.42 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus NA PE1 11 +NX_Q9NVZ3 263 28339 8.49 0 Cytoplasm;Endoplasmic reticulum;Nucleus;Cell membrane;Clathrin-coated vesicle membrane NA PE1 1 +NX_Q9NW07 568 59287 6.11 0 Nucleus NA PE1 19 +NX_Q9NW08 1133 127785 8.77 0 Nucleus speckle;Nucleus Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism PE1 12 +NX_Q9NW13 759 85738 9.26 0 Nucleolus Alopecia, neurologic defects, and endocrinopathy syndrome PE1 7 +NX_Q9NW15 660 76329 7.1 8 Cell membrane Spinocerebellar ataxia, autosomal recessive, 10 PE1 3 +NX_Q9NW38 375 42905 6.02 0 Cytoplasmic vesicle;Cytoplasm;Nucleus Fanconi anemia complementation group L PE1 2 +NX_Q9NW61 149 17551 7.69 0 Mitochondrion NA PE1 19 +NX_Q9NW64 420 46896 8.83 0 Cytoplasm;Nucleus NA PE1 5 +NX_Q9NW68 430 47163 4.43 0 Golgi apparatus NA PE1 1 +NX_Q9NW75 528 58944 9.2 0 Nucleus speckle;Nucleolus NA PE1 1 +NX_Q9NW81 257 29267 6 0 Mitochondrion NA PE1 19 +NX_Q9NW82 654 73201 5.94 0 Cytosol;Mitochondrion NA PE1 5 +NX_Q9NW97 253 27759 5.4 2 Cytosol;Nucleoplasm;Membrane NA PE1 1 +NX_Q9NWA0 146 16403 6.84 0 Nucleoplasm;Nucleus;Midbody NA PE1 17 +NX_Q9NWB1 397 42784 6.37 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA PE1 16 +NX_Q9NWB6 273 33216 10.35 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 13 +NX_Q9NWB7 429 49108 4.93 0 Cytosol;Nucleus speckle;Mitochondrion;Cilium basal body Orofaciodigital syndrome 18 PE1 3 +NX_Q9NWC5 275 31680 7.13 5 Cytoplasmic vesicle;Endoplasmic reticulum;Membrane NA PE1 3 +NX_Q9NWD8 314 35052 5.91 4 Cytoplasmic vesicle;Membrane NA PE1 7 +NX_Q9NWD9 120 14067 5.97 0 Cytosol;Cytoplasm;Nucleus;Spindle pole NA PE1 X +NX_Q9NWF4 448 46317 5.9 11 Cell membrane Riboflavin deficiency PE1 17 +NX_Q9NWF9 866 99406 4.83 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm Gordon Holmes syndrome PE1 7 +NX_Q9NWH2 141 14758 9.17 2 Membrane NA PE1 6 +NX_Q9NWH7 488 55989 8.8 0 Nucleoplasm;Cytoplasmic vesicle;Flagellum;Golgi apparatus;Secreted NA PE1 1 +NX_Q9NWH9 1034 117148 7.69 0 Nucleoplasm;Nucleus NA PE1 15 +NX_Q9NWK9 470 53918 5.62 0 Cytoplasmic vesicle;Nucleus speckle NA PE1 1 +NX_Q9NWL6 643 72080 6.4 0 Cytosol NA PE1 2 +NX_Q9NWM0 555 61819 5.29 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleus membrane;Nucleoplasm NA PE1 20 +NX_Q9NWM3 386 42258 5.48 0 Cytosol;Mitochondrion;Centrosome NA PE1 17 +NX_Q9NWM8 211 24172 5.7 0 Cytosol;Endoplasmic reticulum lumen;Nucleus;Golgi apparatus Ehlers-Danlos syndrome, kyphoscoliotic type, 2 PE1 7 +NX_Q9NWN3 711 78711 8.32 0 Nucleus speckle NA PE1 14 +NX_Q9NWQ4 482 54260 8.77 0 Cytosol;Nucleoplasm NA PE1 14 +NX_Q9NWQ8 432 46981 4.57 1 Cytoplasmic vesicle;Cell membrane NA PE1 8 +NX_Q9NWQ9 140 16009 4.89 0 Mitochondrion;Cytosol NA PE1 14 +NX_Q9NWR8 336 39082 9.23 2 Cytosol;Nucleoplasm;Mitochondrion inner membrane NA PE1 4 +NX_Q9NWS0 290 32363 5.05 0 Cytosol NA PE1 19 +NX_Q9NWS1 579 65054 8.96 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 12 +NX_Q9NWS6 357 40269 5.7 1 Cytosol;Cytoskeleton;Membrane NA PE1 22 +NX_Q9NWS8 449 51604 8.88 0 Mitochondrion Combined oxidative phosphorylation deficiency 11 PE1 6 +NX_Q9NWS9 450 48957 5.72 0 Nucleus speckle;Nucleus NA PE1 19 +NX_Q9NWT1 392 43964 9.07 0 Nucleoplasm;Nucleolus NA PE1 6 +NX_Q9NWT6 349 40285 5.39 0 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus;Cytosol NA PE1 10 +NX_Q9NWT8 199 22354 10.76 0 Mitochondrion;Nucleoplasm;Nucleus NA PE1 1 +NX_Q9NWU1 459 48843 7.59 0 Mitochondrion;Cytosol NA PE1 3 +NX_Q9NWU2 228 26749 4.92 0 Nucleoplasm;Cytoplasm;Nucleus;Cell junction NA PE1 20 +NX_Q9NWU5 206 23641 9.95 0 Mitochondrion NA PE1 5 +NX_Q9NWV4 160 18048 4.93 0 Cytosol NA PE1 1 +NX_Q9NWV8 329 36560 4.6 0 Cytosol;Cytoplasm;Nucleus NA PE1 19 +NX_Q9NWW0 138 15291 6.83 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 16 +NX_Q9NWW5 311 35919 8.94 7 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Endoplasmic reticulum Ceroid lipofuscinosis, neuronal, 6;Ceroid lipofuscinosis, neuronal, 4A PE1 15 +NX_Q9NWW6 199 23193 4.82 0 Cytosol;Nucleoplasm NA PE1 9 +NX_Q9NWW7 574 64077 9.15 0 Nucleus NA PE1 2 +NX_Q9NWW9 162 17394 9.3 1 Cytoplasm;Membrane NA PE1 11 +NX_Q9NWX5 421 47136 5.62 0 Cytoplasm NA PE1 9 +NX_Q9NWX6 298 34831 8.12 0 Mitochondrion;Cytoplasm NA PE1 5 +NX_Q9NWY4 346 39436 6.34 0 Nucleus NA PE1 4 +NX_Q9NWZ3 460 51530 5.24 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus IRAK4 deficiency;Recurrent isolated invasive pneumococcal disease 1 PE1 12 +NX_Q9NWZ5 548 61141 6.93 0 Cytoplasm;Nucleus;Endoplasmic reticulum NA PE1 20 +NX_Q9NWZ8 242 28637 6.31 0 Cytosol;Cytoplasm;Gem;Nucleoplasm NA PE1 X +NX_Q9NX00 188 19658 7.84 3 Membrane NA PE1 19 +NX_Q9NX01 149 17015 5.63 0 Cytosol;Nucleoplasm;Nucleus NA PE1 16 +NX_Q9NX02 1062 120515 5.74 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus NA PE1 19 +NX_Q9NX04 203 23373 5.47 0 Cytosol;Cytoplasm;Nucleus NA PE1 1 +NX_Q9NX05 1096 120588 9.19 0 Nucleus speckle NA PE1 X +NX_Q9NX07 287 32499 4.61 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 1 +NX_Q9NX08 183 21090 5.3 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 4 +NX_Q9NX09 232 25371 4.87 0 Mitochondrion;Cytoplasm;Nucleus;Cytosol NA PE1 10 +NX_Q9NX14 153 17317 5.17 1 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency;Linear skin defects with multiple congenital anomalies 3 PE1 X +NX_Q9NX18 166 19599 6.33 0 Cytosol;Mitochondrion matrix;Mitochondrion;Nucleolus Paragangliomas 2 PE1 11 +NX_Q9NX20 251 28449 10.13 0 Mitochondrion NA PE1 11 +NX_Q9NX24 153 17201 8.48 0 Cytosol;Nucleoplasm;Nucleolus;Cajal body Dyskeratosis congenita, autosomal recessive, 2 PE1 5 +NX_Q9NX31 292 31779 8.74 0 Nucleus speckle;Nucleolus NA PE1 20 +NX_Q9NX36 388 45806 9.57 0 NA NA PE1 21 +NX_Q9NX38 181 20378 8.12 0 Nucleus speckle;Cytosol;Nucleoplasm;Dendrite;Nucleus;Lamellipodium;Growth cone NA PE1 9 +NX_Q9NX40 245 27626 7.02 0 Mitochondrion;Endosome NA PE1 4 +NX_Q9NX45 425 46941 6.79 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 13 +NX_Q9NX46 363 38947 4.95 0 Mitochondrion matrix;Cytoplasm;Nucleus;Nucleoplasm NA PE1 1 +NX_Q9NX47 278 31232 9 4 Endoplasmic reticulum membrane;Mitochondrion;Mitochondrion outer membrane NA PE1 10 +NX_Q9NX52 303 34021 6.61 7 Cell membrane NA PE1 1 +NX_Q9NX55 129 14665 4.9 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA PE1 15 +NX_Q9NX57 234 26277 6.12 0 Cytoplasmic vesicle;Phagosome membrane;Phagosome;Golgi apparatus NA PE1 13 +NX_Q9NX58 379 43615 9.57 0 Cytoplasm;Nucleolus;Nucleus;Photoreceptor outer segment NA PE1 4 +NX_Q9NX61 479 53602 8.75 8 Cytosol;Membrane NA PE1 19 +NX_Q9NX62 359 38681 6.38 1 Cytosol;trans-Golgi network membrane;Nucleus;Golgi apparatus Chondrodysplasia with joint dislocations, GPAPP type PE1 8 +NX_Q9NX63 227 26152 8.48 0 Mitochondrion;Nucleus;Mitochondrion inner membrane;Cytoplasm NA PE1 7 +NX_Q9NX65 697 78728 8.37 0 Nucleoplasm;Nucleus NA PE1 16 +NX_Q9NX70 200 21073 5.86 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q9NX74 493 55050 6.74 0 Cytosol;Cytoplasm;Endoplasmic reticulum NA PE1 16 +NX_Q9NX76 183 20419 5.23 4 Early endosome membrane;Recycling endosome membrane;Cell membrane NA PE1 3 +NX_Q9NX77 482 55045 8.96 1 Virion;Cell membrane NA PE2 16 +NX_Q9NX78 707 79536 8.67 8 Cytosol;Focal adhesion;Nucleus;Membrane Structural heart defects and renal anomalies syndrome PE1 14 +NX_Q9NX94 342 37828 5.02 1 Nucleoplasm;Cytoskeleton;Membrane NA PE1 10 +NX_Q9NX95 663 72388 5.87 1 Cytoplasmic vesicle;Cytoskeleton;Golgi apparatus membrane NA PE1 8 +NX_Q9NXA8 310 33881 8.82 0 Cytosol;Cytoplasm;Mitochondrion matrix;Nucleus;Mitochondrion intermembrane space;Mitochondrion NA PE1 6 +NX_Q9NXB0 559 64528 6.04 0 Centrosome;Cilium basal body Bardet-Biedl syndrome 13;Meckel syndrome 1;Joubert syndrome 28 PE1 17 +NX_Q9NXB9 296 34585 9.32 7 Endoplasmic reticulum membrane NA PE1 6 +NX_Q9NXC2 390 43158 5.63 0 Cytosol;Nucleoplasm;Cell membrane;Secreted NA PE1 6 +NX_Q9NXC5 875 98584 6.29 0 Nucleoplasm;Cytosol;Lysosome membrane NA PE1 7 +NX_Q9NXD2 777 88273 8.78 0 Cytosol;Nucleoplasm;Nucleus NA PE1 15 +NX_Q9NXE4 866 97810 8.5 1 Endoplasmic reticulum membrane;Cytosol;Golgi apparatus membrane;Nucleus membrane NA PE1 2 +NX_Q9NXE8 425 49647 10.18 0 Nucleus speckle NA PE1 17 +NX_Q9NXF1 929 105674 9.43 0 Nucleoplasm;Cytoplasm;Nucleolus NA PE1 9 +NX_Q9NXF7 216 24193 5.71 0 Cytosol;Cell membrane NA PE1 4 +NX_Q9NXF8 308 35140 8.28 4 Golgi apparatus membrane;Golgi apparatus NA PE1 16 +NX_Q9NXG0 1405 161571 8.28 0 Nucleoplasm;Centriole;Cytosol;Centrosome NA PE1 9 +NX_Q9NXG2 353 39315 8.01 0 Cytosol NA PE1 16 +NX_Q9NXG6 502 56661 5.68 1 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cytosol NA PE1 3 +NX_Q9NXH3 145 16508 7.72 0 Cytoplasm NA PE1 15 +NX_Q9NXH8 423 46914 9.98 1 Nucleoplasm;Membrane NA PE1 9 +NX_Q9NXH9 659 72234 7.77 0 Cytosol;Nucleus;Cell membrane NA PE1 19 +NX_Q9NXI6 227 24145 7.02 2 Endoplasmic reticulum membrane NA PE1 1 +NX_Q9NXJ0 267 28069 6.81 4 Membrane NA PE1 11 +NX_Q9NXJ5 209 23138 5.54 0 Cytoplasm;Golgi apparatus NA PE1 19 +NX_Q9NXK6 330 38014 8.6 7 Cytoplasmic vesicle;Cell membrane NA PE1 15 +NX_Q9NXK8 326 37026 9.11 0 Mitochondrion NA PE1 19 +NX_Q9NXL2 777 89078 5.87 0 Nucleoplasm;Centrosome NA PE1 4 +NX_Q9NXL6 827 93839 6.95 11 Membrane NA PE1 3 +NX_Q9NXL9 1143 127313 7.87 0 Nucleoplasm;Nucleus;Chromosome Ovarian dysgenesis 4 PE1 6 +NX_Q9NXN4 497 56225 5.48 0 Endoplasmic reticulum NA PE1 1 +NX_Q9NXP7 522 59842 8.01 0 Nucleolus;Nucleus NA PE1 5 +NX_Q9NXR1 335 37721 5.09 0 Kinetochore;Spindle;Cytoskeleton;Centrosome;Cleavage furrow Microhydranencephaly;Lissencephaly 4 PE1 16 +NX_Q9NXR5 420 44768 5.58 0 Cytosol;Cytoskeleton NA PE1 13 +NX_Q9NXR7 383 43552 5.53 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q9NXR8 418 46743 5.88 0 Nucleus Squamous cell carcinoma of the head and neck PE1 7 +NX_Q9NXS2 382 42924 9.84 1 Golgi apparatus membrane;Golgi apparatus NA PE1 19 +NX_Q9NXS3 571 64192 5.74 0 Cytosol NA PE1 14 +NX_Q9NXT0 402 46413 9.14 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA PE1 19 +NX_Q9NXU5 204 22876 5.41 0 Golgi apparatus;Cell junction;Cell membrane NA PE1 5 +NX_Q9NXV2 234 26093 5.89 0 Cytosol;Nucleus NA PE1 16 +NX_Q9NXV6 580 61125 9.13 0 Nucleoplasm NA PE1 4 +NX_Q9NXW2 375 41860 8.81 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus membrane NA PE1 10 +NX_Q9NXW9 302 33838 6.27 0 Cytoplasm;Nucleus;Midbody NA PE1 7 +NX_Q9NXX6 385 44301 5.25 0 Nucleoplasm;Cytoplasm;Nucleus;Telomere NA PE1 10 +NX_Q9NXZ1 904 99225 6.02 0 Nucleus NA PE1 X +NX_Q9NXZ2 648 72844 8.91 0 Cytoplasm;Nucleus NA PE1 6 +NX_Q9NY12 217 22348 10.91 0 Cajal body;Nucleolus;Nucleus NA PE1 4 +NX_Q9NY15 2570 275482 6.05 1 Cytosol;Nucleoplasm;Cell membrane;Membrane NA PE1 3 +NX_Q9NY25 188 21521 9.04 1 Cytosol;Cell membrane NA PE1 7 +NX_Q9NY26 324 34250 5.6 8 Endoplasmic reticulum membrane;Cytosol;Cell membrane NA PE1 1 +NX_Q9NY27 417 46898 4.48 0 Nucleoplasm;Nucleus;Centrosome NA PE1 3 +NX_Q9NY28 637 72851 9.02 1 Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 12 +NX_Q9NY30 223 25970 8.86 0 Golgi apparatus;Endoplasmic reticulum NA PE1 11 +NX_Q9NY33 737 82589 5.01 0 Cytosol;Nucleus speckle;Cell membrane NA PE1 11 +NX_Q9NY35 253 28603 5.53 4 Cytosol;Nucleolus;Nucleus;Membrane NA PE1 3 +NX_Q9NY37 505 57464 8.51 2 Cell membrane NA PE1 4 +NX_Q9NY43 387 41981 8.67 0 Nucleus NA PE1 1 +NX_Q9NY46 2000 226294 5.6 24 Cell membrane Epileptic encephalopathy, early infantile, 62;Epilepsy, familial focal, with variable foci 4 PE1 2 +NX_Q9NY47 1150 129817 5.54 1 Cytoplasmic vesicle;Membrane NA PE1 3 +NX_Q9NY56 170 19318 8.37 0 Secreted NA PE1 9 +NX_Q9NY57 414 47883 7.63 0 Cytoskeleton NA PE1 4 +NX_Q9NY59 655 71081 5.52 0 Golgi apparatus membrane;Endoplasmic reticulum;Cell membrane NA PE1 16 +NX_Q9NY61 560 63133 4.83 0 Nucleolus NA PE1 17 +NX_Q9NY64 477 50819 7.55 12 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Cell membrane NA PE1 9 +NX_Q9NY65 449 50094 4.94 0 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 8 PE1 22 +NX_Q9NY72 215 24702 4.69 1 Cytosol;Cytoskeleton;Golgi apparatus;Cell membrane;Membrane Brugada syndrome 7;Atrial fibrillation, familial, 16 PE1 11 +NX_Q9NY74 926 103440 7.71 0 Cytosol;Nucleoplasm;Nucleus NA PE1 2 +NX_Q9NY84 501 56118 5.66 0 Cell membrane NA PE2 6 +NX_Q9NY87 97 10982 5.22 0 Cytoplasm;Nucleus NA PE1 X +NX_Q9NY91 659 72456 5.8 11 Cell membrane NA PE1 22 +NX_Q9NY93 547 61590 9.34 0 Nucleolus;Nucleus NA PE1 7 +NX_Q9NY97 397 46022 8.75 1 Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 2 +NX_Q9NY99 539 60217 7.59 0 Cytoskeleton;Sarcolemma NA PE1 2 +NX_Q9NYA1 384 42518 6.64 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 17 +NX_Q9NYA3 693 79946 5.34 0 NA NA PE2 15 +NX_Q9NYA4 1195 133353 5.68 0 Cytoplasm;Membrane NA PE1 17 +NX_Q9NYB0 399 44260 4.64 0 Nucleoplasm;Cytoplasm;Nucleus;Chromosome;Telomere NA PE1 16 +NX_Q9NYB5 712 78696 8.82 12 Cell membrane NA PE2 12 +NX_Q9NYB9 513 55663 5.82 0 Nucleoplasm;Cytoplasm;Nucleus;Filopodium;Adherens junction;Lamellipodium;Cytoskeleton NA PE1 2 +NX_Q9NYC9 4486 511877 5.64 0 Cilium axoneme NA PE1 17 +NX_Q9NYD6 342 38073 8.45 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q9NYF0 836 90174 8.93 0 Nucleoplasm;Cytoplasm;Synapse;Nucleus Neural tube defects;Townes-Brocks syndrome 2 PE1 14 +NX_Q9NYF3 392 43091 9 0 NA NA PE1 5 +NX_Q9NYF5 915 104543 4.87 0 Nucleoplasm NA PE1 5 +NX_Q9NYF8 920 106122 9.99 0 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA PE1 6 +NX_Q9NYG2 299 34170 8.54 4 Golgi apparatus membrane;Golgi apparatus NA PE1 3 +NX_Q9NYG5 84 9841 7.99 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA PE1 17 +NX_Q9NYG8 393 42704 8.91 4 Cell membrane NA PE1 11 +NX_Q9NYH9 597 70194 6.92 0 Nucleolus NA PE1 17 +NX_Q9NYI0 1048 116034 5.68 0 Cytoplasmic vesicle;Postsynaptic density;Nucleus;Cell membrane;Ruffle membrane NA PE1 8 +NX_Q9NYJ1 87 10134 5.65 0 Mitochondrion;Cytoplasm;Nucleolus;Nucleus NA PE1 11 +NX_Q9NYJ7 618 64618 7.86 1 Nucleoplasm;Cytosol;Membrane Spondylocostal dysostosis 1, autosomal recessive PE1 19 +NX_Q9NYJ8 693 76494 8.8 0 Cytosol;Membrane Congenital heart defects, multiple types, 2 PE1 6 +NX_Q9NYK1 1049 120922 8.51 1 Endoplasmic reticulum membrane;Endosome;Phagosome;Lysosome NA PE1 X +NX_Q9NYK5 338 38712 7.56 0 Mitochondrion NA PE1 21 +NX_Q9NYK6 297 33948 6.1 0 Cytoplasm;Cytoskeleton NA PE1 21 +NX_Q9NYL2 800 91155 7.9 0 Cytosol;Cytoplasm;Nucleus Myopathy, centronuclear, 6, with fiber-type disproportion;Split-foot malformation with mesoaxial polydactyly PE1 2 +NX_Q9NYL4 201 22180 9.44 1 Centrosome;Membrane NA PE1 12 +NX_Q9NYL5 469 54116 8.85 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 6 +NX_Q9NYL9 352 39595 5.08 0 Cytosol;Cytoskeleton NA PE1 15 +NX_Q9NYM4 423 48339 9.32 7 Cell membrane NA PE2 11 +NX_Q9NYM9 111 12388 7.87 1 trans-Golgi network membrane;Nucleus;Golgi apparatus membrane;Golgi apparatus NA PE1 11 +NX_Q9NYN1 266 29662 9.16 0 NA NA PE1 15 +NX_Q9NYP3 566 62747 8.84 0 Cytosol;Nucleoplasm;Nucleus;Cell junction Microcephaly, short stature, and limb abnormalities;Microcephaly-micromelia syndrome PE1 21 +NX_Q9NYP7 299 35293 9.49 7 Endoplasmic reticulum membrane;Dendrite;Endoplasmic reticulum Spinocerebellar ataxia 38 PE1 6 +NX_Q9NYP8 219 24886 8.31 0 NA NA PE2 21 +NX_Q9NYP9 233 25863 5.14 0 Cytosol;Centromere;Nucleus;Chromosome NA PE1 21 +NX_Q9NYQ3 351 38839 7.57 0 Peroxisome NA PE1 1 +NX_Q9NYQ6 3014 329486 5.59 7 Cell membrane Neural tube defects PE1 22 +NX_Q9NYQ7 3312 358185 6.23 7 Cell membrane NA PE1 3 +NX_Q9NYQ8 4349 479317 5 1 Cell junction;Cell membrane;trans-Golgi network Spinocerebellar ataxia 45 PE1 5 +NX_Q9NYR8 311 33755 8.74 3 Membrane NA PE1 19 +NX_Q9NYR9 191 21508 8.22 0 Cytoplasm;Nucleolus;Nucleus NA PE1 17 +NX_Q9NYS0 192 21643 5.99 0 Cytoplasm;Cytoskeleton NA PE1 3 +NX_Q9NYS7 404 45286 8.36 0 NA NA PE1 12 +NX_Q9NYT0 353 39971 9.45 0 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Lamellipodium membrane NA PE1 14 +NX_Q9NYT6 803 91921 9.01 0 Nucleus NA PE1 19 +NX_Q9NYU1 1516 174735 6.43 0 Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum lumen NA PE1 13 +NX_Q9NYU2 1555 177190 5.42 0 Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum lumen NA PE1 2 +NX_Q9NYV4 1490 164155 9.46 0 Nucleus speckle;Nucleus NA PE1 17 +NX_Q9NYV6 651 74107 5.4 0 Nucleolus NA PE1 16 +NX_Q9NYV7 291 33986 9.5 7 Cell membrane NA PE1 7 +NX_Q9NYV8 317 36160 10.12 7 Membrane NA PE1 12 +NX_Q9NYV9 303 35118 9.68 7 Membrane NA PE1 12 +NX_Q9NYW0 307 35365 9.55 7 Membrane NA PE1 12 +NX_Q9NYW1 312 35611 9.83 7 Membrane NA PE1 12 +NX_Q9NYW2 309 35877 9.66 7 Membrane NA PE1 12 +NX_Q9NYW3 318 36550 9.69 7 Membrane NA PE1 12 +NX_Q9NYW4 299 34505 9.86 7 Membrane NA PE1 7 +NX_Q9NYW5 299 33841 9.85 7 Cilium membrane;Membrane NA PE1 7 +NX_Q9NYW6 316 35915 9.72 7 Membrane NA PE2 7 +NX_Q9NYW7 299 34333 9.87 7 Membrane NA PE1 5 +NX_Q9NYW8 714 82995 7.02 0 Nucleoplasm;Nucleus NA PE1 7 +NX_Q9NYX4 217 23434 6.43 1 Cytoplasmic vesicle membrane;Cell membrane NA PE1 10 +NX_Q9NYY1 176 20072 8.92 0 Secreted NA PE1 1 +NX_Q9NYY3 685 78237 8.52 0 Mitochondrion;Nucleoplasm;Centriole;Cytosol;Dendrite NA PE1 5 +NX_Q9NYY8 710 81463 8.31 0 Mitochondrion nucleoid;Mitochondrion NA PE1 2 +NX_Q9NYZ1 205 23576 8.62 4 Membrane NA PE1 17 +NX_Q9NYZ2 338 37323 9.33 6 Cytoplasm;Mitochondrion inner membrane;Cell membrane NA PE1 8 +NX_Q9NYZ3 720 76645 9.45 0 Cytoskeleton;Centrosome;Cell membrane NA PE1 22 +NX_Q9NYZ4 499 54042 8.39 1 Cytosol;Membrane NA PE1 19 +NX_Q9NZ01 308 36034 9.5 3 Endoplasmic reticulum membrane;Endoplasmic reticulum Mental retardation, autosomal recessive 14 PE1 19 +NX_Q9NZ08 941 107235 6.02 1 Endoplasmic reticulum membrane;Nucleoplasm;Cytosol;Cell membrane NA PE1 5 +NX_Q9NZ09 502 55084 5.02 0 Cytosol;Cytoplasm;Endosome;Cell membrane NA PE1 9 +NX_Q9NZ20 509 57167 9.35 0 Centriole;Cell membrane;Secreted NA PE1 22 +NX_Q9NZ32 417 46307 7.06 0 Cytoskeleton;Nucleolus NA PE1 14 +NX_Q9NZ38 188 21312 10.21 0 NA NA PE2 10 +NX_Q9NZ42 101 12029 9.25 1 Endoplasmic reticulum membrane;Golgi stack membrane;Cell membrane;Membrane Acne inversa, familial, 2, with or without Dowling-Degos disease PE1 19 +NX_Q9NZ43 259 29371 9.13 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 19 +NX_Q9NZ45 108 12199 9.2 1 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA PE1 10 +NX_Q9NZ52 723 78315 5.41 0 Endosome membrane;Recycling endosome membrane;Early endosome membrane;trans-Golgi network membrane;Golgi apparatus NA PE1 17 +NX_Q9NZ53 605 65076 4.27 1 Cytoplasmic vesicle;Golgi apparatus;Membrane NA PE1 3 +NX_Q9NZ56 1722 180106 5.32 0 Nucleolus;Cytosol;Cell cortex;Cell membrane;Perinuclear region;Nucleus;Cytoskeleton;Cytoplasmic vesicle membrane Mental retardation, autosomal recessive 47 PE1 1 +NX_Q9NZ63 289 33688 6.33 0 Nucleoplasm NA PE1 9 +NX_Q9NZ71 1219 133683 8.6 0 Nucleus speckle;Nucleus Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 3;Dyskeratosis congenita, autosomal dominant, 4 PE1 20 +NX_Q9NZ72 180 21017 6.99 0 Axon;Growth cone;Golgi apparatus NA PE1 20 +NX_Q9NZ81 148 15385 9.75 0 Nucleoplasm;Nucleus;Cell membrane NA PE1 12 +NX_Q9NZ94 848 93895 5.94 1 Cell membrane;Synapse;Cell junction;Golgi apparatus Asperger syndrome, X-linked, 1;Autism, X-linked 1 PE1 X +NX_Q9NZA1 410 46503 4.71 1 Nucleus speckle;Golgi apparatus;Cell cortex;Cell membrane;Membrane;Cytoskeleton;Centrosome Deafness, autosomal recessive, 103 PE1 6 +NX_Q9NZB2 1118 121888 9.07 0 Cytosol;Cytoplasm;Cell membrane NA PE1 9 +NX_Q9NZB8 636 70105 9.4 0 Cytosol;Cell membrane Molybdenum cofactor deficiency, complementation group A PE1 6 +NX_Q9NZC2 230 25447 5.84 1 Cell membrane;Secreted Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy PE1 6 +NX_Q9NZC3 331 37718 6.22 2 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Nucleolus;Nucleus;Cell membrane NA PE1 16 +NX_Q9NZC4 300 34892 6.83 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 11 +NX_Q9NZC7 414 46677 6.71 0 Mitochondrion;Cytoplasm;Nucleus;Cytosol;Golgi apparatus Spinocerebellar ataxia, autosomal recessive, 12;Esophageal cancer;Epileptic encephalopathy, early infantile, 28 PE1 16 +NX_Q9NZC9 954 105938 9.15 0 Nucleoplasm;Nucleus Schimke immuno-osseous dysplasia PE1 2 +NX_Q9NZD1 345 38791 4.87 7 Cell membrane NA PE1 12 +NX_Q9NZD2 209 23850 6.91 0 Cytosol;Cytoplasm NA PE1 12 +NX_Q9NZD4 102 11840 4.9 0 Cytoplasm NA PE1 16 +NX_Q9NZD8 308 34960 5.85 0 Endosome membrane;Cytosol;Cytoplasmic vesicle;trans-Golgi network membrane;Membrane Spastic paraplegia 21, autosomal recessive PE1 15 +NX_Q9NZE8 188 21514 11.29 0 Mitochondrion NA PE1 2 +NX_Q9NZF1 115 12507 7.87 0 Cytosol NA PE1 4 +NX_Q9NZG7 142 15680 9.52 2 Membrane NA PE1 12 +NX_Q9NZH0 403 44795 8.56 7 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Nucleolus;Nucleus;Cell membrane NA PE1 16 +NX_Q9NZH4 202 22064 5.54 0 Cytoplasm;Nucleus NA PE5 8 +NX_Q9NZH5 202 22302 5.98 0 Cytoplasm;Nucleus NA PE1 4 +NX_Q9NZH6 218 24126 6.09 0 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Secreted NA PE1 2 +NX_Q9NZH7 164 18522 9.6 0 Secreted NA PE1 2 +NX_Q9NZH8 169 18721 5.06 0 Secreted NA PE1 2 +NX_Q9NZI2 227 26817 5.1 0 Dendrite;Cell membrane;Cytoplasm NA PE1 5 +NX_Q9NZI5 618 70113 6.26 0 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA PE1 2 +NX_Q9NZI6 479 54627 6.53 0 Nucleolus;Nucleus NA PE1 2 +NX_Q9NZI7 540 60491 5.92 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q9NZI8 577 63481 9.26 0 Filopodium;Cytosol;Cytoplasm;Axon;Dendrite;Perinuclear region;Nucleus;Dendritic spine;Lamellipodium;Growth cone NA PE1 17 +NX_Q9NZJ0 730 79468 9.11 0 Cytosol;Nucleus;Chromosome;Nucleus membrane;Centrosome NA PE1 1 +NX_Q9NZJ4 4579 521126 6.63 0 Cytoplasm Spastic ataxia Charlevoix-Saguenay type PE1 13 +NX_Q9NZJ5 1116 125216 5.27 1 Endoplasmic reticulum membrane Wolcott-Rallison syndrome PE1 2 +NX_Q9NZJ6 369 41054 7.1 0 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA PE1 6 +NX_Q9NZJ7 389 41544 9.4 2 Mitochondrion inner membrane NA PE1 6 +NX_Q9NZJ9 180 20306 5.99 0 Cytoplasm NA PE1 12 +NX_Q9NZK5 511 58934 7.75 0 Secreted Sneddon syndrome;Polyarteritis nodosa PE1 22 +NX_Q9NZK7 142 15989 8.61 0 Secreted NA PE1 1 +NX_Q9NZL3 707 82280 9.01 0 Nucleus;Nucleus membrane NA PE1 19 +NX_Q9NZL4 359 39303 5.13 0 Cytoplasmic vesicle;Cytosol NA PE1 19 +NX_Q9NZL6 768 86701 5.78 0 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA PE1 1 +NX_Q9NZL9 334 37552 6.9 0 Nucleus NA PE1 5 +NX_Q9NZM1 2061 234709 5.84 1 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Nucleus membrane;Cell membrane NA PE1 10 +NX_Q9NZM3 1697 193461 8.32 0 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA PE1 2 +NX_Q9NZM4 1560 158490 6.17 0 Nucleoplasm NA PE1 19 +NX_Q9NZM5 478 54389 10.32 0 Nucleoplasm;Nucleolus NA PE1 19 +NX_Q9NZM6 624 73790 9 6 Cytosol;Cell membrane;Membrane NA PE1 5 +NX_Q9NZN1 696 79969 5.87 1 Axon;Cytoplasm;Cell membrane;Dendrite Mental retardation, X-linked 21 PE1 X +NX_Q9NZN3 535 60887 6.12 0 Cilium membrane;Recycling endosome membrane;Cell membrane NA PE1 2 +NX_Q9NZN4 543 61161 6.03 0 Caveola;Endosome membrane;Cytosol;Cell membrane NA PE1 19 +NX_Q9NZN5 1544 173232 5.49 0 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane;Membrane NA PE1 11 +NX_Q9NZN8 540 59738 7.23 0 Cytosol;Cytoplasm;Nucleus NA PE1 12 +NX_Q9NZN9 384 43903 5.63 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Leber congenital amaurosis 4 PE1 17 +NX_Q9NZP0 311 35531 8.75 7 Cell membrane NA PE3 12 +NX_Q9NZP2 312 35178 8.96 7 Cell membrane NA PE3 12 +NX_Q9NZP5 309 35304 9.13 7 Cell membrane NA PE3 3 +NX_Q9NZP6 1156 120954 8.94 0 Nucleoplasm;Nucleus inner membrane NA PE1 15 +NX_Q9NZP8 487 53498 6.75 0 Cytosol;Cytoskeleton;Secreted NA PE1 12 +NX_Q9NZQ0 273 30855 8.71 0 Cytosol;Nucleus NA PE1 2 +NX_Q9NZQ3 722 78960 5.94 0 Cytosol;Nucleus;Cell membrane NA PE1 3 +NX_Q9NZQ7 290 33275 6.76 1 Cytosol;Early endosome membrane;Recycling endosome membrane;Cell membrane;Endomembrane system NA PE1 9 +NX_Q9NZQ8 1165 131451 6.32 6 Cell membrane NA PE2 11 +NX_Q9NZQ9 345 39335 4.69 0 Cytoskeleton NA PE1 1 +NX_Q9NZR1 351 39595 5.21 0 Cytoskeleton;Nucleolus;Nucleus NA PE1 15 +NX_Q9NZR2 4599 515498 5.09 1 Cytoplasmic vesicle;Membrane NA PE1 2 +NX_Q9NZR4 365 38431 8.99 0 Nucleus Keratoconus 1;Craniofacial anomalies and anterior segment dysgenesis syndrome PE1 20 +NX_Q9NZS2 232 26666 8.84 1 Membrane NA PE1 12 +NX_Q9NZS9 450 52738 6.11 4 Endoplasmic reticulum membrane NA PE1 16 +NX_Q9NZT1 146 15893 4.34 0 Cytosol;Cell membrane NA PE1 10 +NX_Q9NZT2 677 73325 4.77 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 20 +NX_Q9NZU0 649 73004 7.55 1 Endoplasmic reticulum membrane;Secreted;Cytosol;Cell membrane;Axon;Focal adhesion;Cell junction Hypogonadotropic hypogonadism 21 with or without anosmia PE1 20 +NX_Q9NZU1 646 71358 5.95 1 Endoplasmic reticulum membrane;Secreted;Focal adhesion;Cell membrane;Perinuclear region;Cytoplasmic vesicle membrane;Cell projection;Cell junction NA PE1 11 +NX_Q9NZU5 365 40833 8.27 0 Cytosol;Cytoplasm;Nucleus;Cell junction;Cell membrane NA PE1 3 +NX_Q9NZU7 370 39838 8.65 0 Golgi apparatus;Cell cortex;Cell membrane;Perinuclear region;Postsynaptic density;Cytoskeleton NA PE1 12 +NX_Q9NZV1 1036 113738 5.08 1 Cell membrane;Secreted NA PE1 2 +NX_Q9NZV5 590 65813 5.32 0 Endoplasmic reticulum membrane;Cytosol Rigid spine muscular dystrophy 1;Myopathy, congenital, with fiber-type disproportion PE1 1 +NX_Q9NZV6 116 12760 8.64 0 Cytoplasm;Cytoskeleton;Nucleus NA PE1 16 +NX_Q9NZV7 527 61164 6.3 0 Cytosol;Nucleus speckle;Nucleus NA PE1 19 +NX_Q9NZV8 630 70537 8.24 6 Synapse;Perikaryon;Cell membrane;Dendrite;Postsynaptic cell membrane;Dendritic spine;Cell junction NA PE1 7 +NX_Q9NZW4 1301 131151 3.58 0 Extracellular matrix Dentin dysplasia 2;Dentinogenesis imperfecta, Shields type 3;Dentinogenesis imperfecta, Shields type 2;Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 PE1 4 +NX_Q9NZW5 540 61117 5.82 0 Membrane NA PE1 7 +NX_Q9NZY2 134 14626 6.88 0 NA NA PE5 14 +NX_Q9NZZ3 219 24571 4.68 0 Cytosol;Endosome membrane;Cytoskeleton;Midbody NA PE1 9 +NX_Q9P000 198 21819 5.6 0 Cytosol;Cytoplasmic vesicle;Nucleus;Golgi apparatus NA PE1 11 +NX_Q9P003 139 16093 6.16 3 Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum;Membrane NA PE1 1 +NX_Q9P013 229 26624 5.55 0 Mitochondrion;Nucleus speckle;Nucleus NA PE1 11 +NX_Q9P015 296 33420 10.02 0 Mitochondrion NA PE1 8 +NX_Q9P016 225 25697 9.3 0 Cytosol;Nucleolus;Nucleus NA PE1 11 +NX_Q9P021 101 11216 9.57 0 Cytoplasm;Synapse;Nucleolus;Nucleus;Dendritic spine Short stature with microcephaly and distinctive facies PE1 2 +NX_Q9P031 241 28670 9.89 0 Nucleolus;Nucleus NA PE1 12 +NX_Q9P032 175 20266 8.85 0 Mitochondrion;Membrane Mitochondrial complex I deficiency PE1 6 +NX_Q9P035 362 43160 9.04 6 Endoplasmic reticulum membrane;Nucleus membrane;Cytosol;Cytoplasm;Endoplasmic reticulum;Cell membrane;Mitochondrion NA PE1 15 +NX_Q9P055 319 36169 8.18 7 Nucleoplasm;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 14 +NX_Q9P086 117 13129 5.71 0 Nucleoplasm;Nucleus NA PE1 17 +NX_Q9P0B6 97 11459 9.52 1 Cytosol;Membrane NA PE1 6 +NX_Q9P0G3 267 29122 9.47 0 Extracellular space NA PE1 19 +NX_Q9P0I2 261 29952 6.33 2 Cytosol;Cytoskeleton;Membrane NA PE1 3 +NX_Q9P0J0 144 16698 8.02 1 Mitochondrion;Mitochondrion inner membrane;Nucleus Hurthle cell thyroid carcinoma PE1 19 +NX_Q9P0J1 537 61054 6.2 0 Mitochondrion matrix;Nucleoplasm;Mitochondrion;Cytosol Pyruvate dehydrogenase phosphatase deficiency PE1 8 +NX_Q9P0J6 103 11784 11.27 0 Mitochondrion;Nucleus NA PE1 5 +NX_Q9P0J7 381 41945 5.41 0 Nucleoplasm;Cytosol NA PE1 2 +NX_Q9P0K1 906 100433 6.91 1 Axon;Cell junction;Cell membrane Epileptic encephalopathy, early infantile, 61 PE1 7 +NX_Q9P0K7 980 110041 5.87 0 Stress fiber;Cytosol;Cell cortex;Nucleus;Cytoskeleton;Cell junction NA PE1 5 +NX_Q9P0K8 574 62395 6.2 0 Nucleolus;Nucleus NA PE1 12 +NX_Q9P0K9 344 37270 7.55 1 Synapse;Cell membrane Epileptic encephalopathy, early infantile, 37 PE1 9 +NX_Q9P0L0 249 27893 8.8 1 Endoplasmic reticulum membrane;Tight junction;Cell membrane;Endoplasmic reticulum;Nucleus membrane NA PE1 18 +NX_Q9P0L1 754 85033 7.26 0 Nucleus NA PE1 3 +NX_Q9P0L2 795 89003 9.42 0 Cytoplasm;Cytoskeleton;Cell membrane;Dendrite NA PE1 1 +NX_Q9P0L9 805 91982 5.34 6 Cytoplasmic vesicle;Cilium membrane;Cell membrane NA PE1 10 +NX_Q9P0M2 348 39518 5.85 0 Cytoplasm;Nucleus NA PE1 6 +NX_Q9P0M4 197 21765 8.44 0 Secreted NA PE1 16 +NX_Q9P0M6 372 40058 9.71 0 Nucleoplasm;Nucleus;Chromosome NA PE1 10 +NX_Q9P0M9 148 16073 10.42 0 Mitochondrion NA PE1 17 +NX_Q9P0N5 145 16487 9.39 4 Membrane;Cilium basal body Joubert syndrome 2;Meckel syndrome 2 PE1 11 +NX_Q9P0N8 246 26995 7.46 2 Endosome membrane;Endoplasmic reticulum membrane;Lysosome membrane;Cytosol NA PE1 19 +NX_Q9P0N9 293 33972 8.08 0 Cytoplasmic vesicle Macrocephaly/megalencephaly syndrome, autosomal recessive PE1 6 +NX_Q9P0P0 153 17909 4.93 0 Nucleoplasm;Cytosol NA PE1 2 +NX_Q9P0P8 240 27941 9.31 0 NA NA PE1 6 +NX_Q9P0R6 139 15648 4.36 0 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus;Golgi apparatus NA PE1 14 +NX_Q9P0S2 106 12293 9.49 1 Mitochondrion;Cytoplasm;Mitochondrion inner membrane;Cell membrane NA PE1 14 +NX_Q9P0S3 153 17371 9.64 2 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 2 +NX_Q9P0S9 112 11565 9.87 4 Mitochondrion membrane NA PE1 6 +NX_Q9P0T4 197 22010 9.16 0 Nucleus NA PE1 19 +NX_Q9P0T7 183 20574 6.21 1 Late endosome membrane;Lysosome membrane;Endoplasmic reticulum NA PE1 1 +NX_Q9P0U1 55 6248 10.28 1 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA PE1 7 +NX_Q9P0U3 644 73481 8.69 0 Cytoplasm;Focal adhesion;Nucleus NA PE1 12 +NX_Q9P0U4 656 75712 8.61 0 Nucleus speckle;Nucleus NA PE1 18 +NX_Q9P0V3 963 107496 7.77 0 Clathrin-coated vesicle;Nucleus;Clathrin-coated pit NA PE1 2 +NX_Q9P0V8 285 31670 5.8 1 Membrane NA PE1 1 +NX_Q9P0V9 454 52593 6.35 0 Cytoplasm;Cytoskeleton;Cell membrane NA PE1 2 +NX_Q9P0W0 207 25218 8.66 0 Secreted NA PE1 9 +NX_Q9P0W2 317 35813 9.38 0 Nucleoplasm;Nucleus;Chromosome NA PE1 19 +NX_Q9P0W8 599 67719 5.9 0 Cytosol;Nucleoplasm;Cilium axoneme;Mitochondrion;Cytoskeleton;Cilium basal body Retinitis pigmentosa autosomal recessive;Leber congenital amaurosis 3 PE1 14 +NX_Q9P0X4 2223 245103 6.09 24 Membrane NA PE1 22 +NX_Q9P0Z9 390 44066 8.67 0 Peroxisome NA PE1 17 +NX_Q9P104 306 35464 9.02 0 Focal adhesion NA PE1 20 +NX_Q9P107 970 106683 5.5 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 19 +NX_Q9P109 453 53052 8.48 1 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus NA PE1 5 +NX_Q9P121 344 37971 7.98 0 Cell membrane NA PE1 11 +NX_Q9P126 229 26596 8.79 1 Membrane NA PE1 12 +NX_Q9P127 313 35937 9.47 0 Cytoplasm;Nucleus NA PE1 X +NX_Q9P1A2 415 45908 4.62 0 NA NA PE5 20 +NX_Q9P1A6 1054 117620 6.42 0 Postsynaptic density;Synapse;Cell membrane NA PE1 8 +NX_Q9P1C3 46 5407 10.93 0 Secreted NA PE5 14 +NX_Q9P1D8 64 6607 11.3 0 NA NA PE5 16 +NX_Q9P1F3 81 9056 5.86 0 Nucleoplasm;Cytosol NA PE1 6 +NX_Q9P1G2 102 11378 8.77 0 NA NA PE5 8 +NX_Q9P1J3 65 7343 6.54 0 NA NA PE5 14 +NX_Q9P1P4 343 39065 8.7 7 Cell membrane NA PE5 6 +NX_Q9P1P5 351 40134 8.91 7 Cell membrane NA PE2 6 +NX_Q9P1Q0 977 110589 6.1 0 Nucleoplasm;trans-Golgi network;Golgi apparatus NA PE1 2 +NX_Q9P1Q5 309 34565 8.96 7 Cell membrane NA PE2 17 +NX_Q9P1T7 246 25788 5.09 0 Nucleoplasm;Cytoplasm;Nucleolus;Golgi apparatus NA PE1 7 +NX_Q9P1U0 126 13904 4.9 0 Nucleolus NA PE1 6 +NX_Q9P1U1 418 47608 5.61 0 Cytoskeleton;Cell projection NA PE1 7 +NX_Q9P1V8 674 77151 4.43 0 Nucleolus;Nucleus;Nucleus membrane NA PE1 14 +NX_Q9P1W3 806 93317 6.59 10 Centrosome;Membrane NA PE1 14 +NX_Q9P1W8 387 42498 6.71 1 Membrane NA PE1 20 +NX_Q9P1W9 311 34190 5.58 0 Cytosol NA PE1 X +NX_Q9P1Y5 1249 134750 8.61 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Centrosome;Adherens junction NA PE1 19 +NX_Q9P1Y6 1649 178666 9.15 0 NA NA PE1 11 +NX_Q9P1Z0 1013 105114 8.65 0 Nucleoplasm;Cytosol;Nucleus;Chromosome NA PE1 17 +NX_Q9P1Z2 691 77336 4.77 0 Cytosol;Cytoplasm;Nucleus NA PE1 12 +NX_Q9P1Z3 774 86032 9.75 6 Cell membrane NA PE1 1 +NX_Q9P1Z9 1701 197344 5.75 0 NA NA PE1 9 +NX_Q9P202 907 96558 8.74 0 Photoreceptor inner segment;Cytoplasm;Synapse;Stereocilium;Growth cone Deafness, autosomal recessive, 31;Usher syndrome 2D PE1 9 +NX_Q9P203 1132 126368 6.51 0 Focal adhesion;Nucleus NA PE1 14 +NX_Q9P206 1035 107095 9.75 0 Nucleoplasm;Cell junction;Cell membrane NA PE1 1 +NX_Q9P209 647 71718 6.08 0 Centriolar satellite;Centrosome NA PE1 5 +NX_Q9P212 2302 258715 6.07 0 Cytosol;Golgi apparatus membrane;Cell membrane Nephrotic syndrome 3 PE1 10 +NX_Q9P215 609 69444 5.06 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 1 +NX_Q9P217 1185 130634 6.78 0 Nucleus speckle NA PE2 1 +NX_Q9P218 1284 135830 8.27 0 Extracellular space NA PE1 20 +NX_Q9P219 2028 228230 5.87 0 Cytoplasm;Nucleolus;Nucleus Spinocerebellar ataxia 40;Hydrocephalus, congenital, 1 PE1 14 +NX_Q9P225 4427 507698 5.98 0 Cytoskeleton;Cilium axoneme NA PE1 17 +NX_Q9P227 1491 162192 9.31 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 17 +NX_Q9P232 1028 112883 5.94 0 Cell membrane NA PE1 3 +NX_Q9P241 1426 160274 6.78 10 Endoplasmic reticulum membrane;Nucleoplasm;Cell membrane NA PE1 4 +NX_Q9P242 653 70548 8.71 0 Nucleoplasm;Cytoskeleton NA PE1 2 +NX_Q9P243 1243 139034 6.9 0 Nucleoplasm;Cytosol;Nucleus NA PE1 8 +NX_Q9P244 771 82318 6.62 1 Postsynaptic density;Synapse;Membrane NA PE1 19 +NX_Q9P246 746 83971 6.3 1 Endoplasmic reticulum membrane NA PE1 4 +NX_Q9P253 973 110186 5.72 0 Lysosome membrane;Late endosome membrane;Clathrin-coated vesicle;Autophagosome;Early endosome NA PE1 15 +NX_Q9P255 531 61158 9.4 0 Nucleus NA PE2 19 +NX_Q9P258 522 56085 9.02 0 Nucleolus;Cell membrane;Spindle;Nucleus;Cytoskeleton;Centromere;Midbody;Chromosome NA PE1 1 +NX_Q9P260 1216 134630 5.28 0 Nucleoplasm;Cytosol;Recycling endosome;trans-Golgi network;Microtubule organizing center NA PE1 18 +NX_Q9P265 1576 171492 8.43 0 Endoplasmic reticulum NA PE1 12 +NX_Q9P266 1359 148351 6.65 0 Cytoplasmic vesicle;Adherens junction;Cell junction NA PE1 10 +NX_Q9P267 1494 159895 9.17 0 Nucleus;Midbody;Chromosome Mental retardation, autosomal dominant 1 PE1 2 +NX_Q9P270 581 62543 9.48 0 Cytosol;Cytoskeleton;Centrosome NA PE1 4 +NX_Q9P272 454 51299 6.2 0 Cytosol;Nucleus NA PE2 8 +NX_Q9P273 2699 300950 5.99 1 Nucleoplasm;Axon;Cell membrane Microphthalmia, isolated, with coloboma, 9 PE1 4 +NX_Q9P275 1123 122908 9.73 0 Nucleus speckle;Nucleolus;Cytoplasm NA PE1 17 +NX_Q9P278 1114 122115 6.2 0 Cytoplasm NA PE1 4 +NX_Q9P281 2639 280016 9.01 0 Nucleolus NA PE1 17 +NX_Q9P283 1151 125913 7.99 1 Cytosol;Membrane NA PE1 3 +NX_Q9P286 719 80745 8.19 0 Mitochondrion;Cytoplasm;Nucleus;Nucleoplasm NA PE1 20 +NX_Q9P287 314 35979 4.51 0 Cytosol;Spindle pole;Centriole;Nucleoplasm;Nucleus;Centrosome NA PE1 10 +NX_Q9P289 416 46529 5.16 0 Cytosol;Cytoplasm;Nucleus;Centrosome;Golgi apparatus NA PE1 X +NX_Q9P291 453 49180 9.32 1 Mitochondrion;Cytosol;Nucleus;Mitochondrion outer membrane NA PE1 X +NX_Q9P296 337 36080 8.17 7 Cell membrane NA PE1 19 +NX_Q9P298 99 11058 9.55 2 Membrane NA PE1 17 +NX_Q9P299 210 23548 5.08 0 COPI-coated vesicle membrane;Cytoplasm;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 17 +NX_Q9P2A4 366 39035 4.99 0 Cytoplasm NA PE1 17 +NX_Q9P2B2 879 98556 6.16 1 Endoplasmic reticulum membrane;trans-Golgi network membrane NA PE1 1 +NX_Q9P2B4 639 70158 8.22 0 Cytosol;Cytoskeleton;Nucleolus;Stress fiber NA PE1 1 +NX_Q9P2B7 532 59475 9.12 0 Cytosol;Nucleolus;Cell membrane NA PE1 4 +NX_Q9P2C4 612 69325 9.1 9 Cytoplasmic vesicle;Golgi apparatus;Membrane NA PE1 6 +NX_Q9P2D0 1353 150528 7.79 0 Nucleoplasm;Cytoplasm;Nucleus;Membrane NA PE1 6 +NX_Q9P2D1 2997 335927 5.95 0 Nucleoplasm;Nucleolus;Nucleus Hypogonadotropic hypogonadism 5 with or without anosmia;Idiopathic scoliosis 3;CHARGE syndrome PE1 8 +NX_Q9P2D3 2071 224302 6.77 0 Cytosol;Nucleolus;Nucleus NA PE1 2 +NX_Q9P2D6 1515 169840 5.22 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 6 +NX_Q9P2D7 4265 487478 5.59 0 Flagellum;Cilium axoneme Ciliary dyskinesia, primary, 37;Spermatogenic failure 18 PE1 3 +NX_Q9P2D8 2635 295326 5.9 2 Nucleus;Cell membrane;Membrane NA PE1 14 +NX_Q9P2E2 1029 115068 5.38 0 Nucleoplasm;Cytoskeleton;Cilium;Cell membrane NA PE1 1 +NX_Q9P2E3 1918 220227 7.06 0 Mitochondrion NA PE1 20 +NX_Q9P2E5 772 85948 7.94 1 Cytosol;Golgi stack membrane;Nucleoplasm NA PE1 7 +NX_Q9P2E7 1040 112936 4.74 1 Cytoplasmic vesicle;Nucleus;Golgi apparatus;Cell membrane NA PE1 4 +NX_Q9P2E8 410 45528 8.18 2 Golgi apparatus membrane NA PE2 2 +NX_Q9P2E9 1410 152456 8.69 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 20 +NX_Q9P2F5 926 102671 8.67 0 Nucleoplasm;Cytosol;Cytoskeleton NA PE1 4 +NX_Q9P2F6 1191 132608 8.26 0 Mitochondrion NA PE1 11 +NX_Q9P2F8 1722 190438 6.31 0 Nucleus;Nucleus membrane;Golgi apparatus NA PE1 1 +NX_Q9P2F9 582 65547 8.75 0 Nucleus NA PE1 16 +NX_Q9P2G1 1089 122002 4.98 0 Cytosol;Cell membrane NA PE1 7 +NX_Q9P2G3 628 70714 6.21 0 Cytosol;Endoplasmic reticulum membrane;Cytoskeleton NA PE1 18 +NX_Q9P2G4 905 100345 6.77 0 Cleavage furrow;Midbody;Nucleus;Centrosome;Cytoskeleton;Spindle pole NA PE1 1 +NX_Q9P2G9 620 68802 6.12 0 Nucleoplasm NA PE1 4 +NX_Q9P2H0 1117 125870 8.95 0 Cytosol;Midbody;Nucleoplasm;Centrosome;Cilium basal body NA PE1 11 +NX_Q9P2H3 777 88035 7.59 0 Cytoplasm;Cilium axoneme;Cilium basal body Short-rib thoracic dysplasia 2 with or without polydactyly PE1 3 +NX_Q9P2H5 1018 113405 5.42 0 Nucleolus;Nucleus NA PE1 11 +NX_Q9P2I0 782 88487 4.98 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 14 +NX_Q9P2J2 1179 126580 6.74 1 Synapse;Cell membrane NA PE1 1 +NX_Q9P2J3 617 69429 5.92 0 NA NA PE1 9 +NX_Q9P2J5 1176 134466 6.95 0 Cytosol;Cytoplasm;Nucleus Infantile liver failure syndrome 1 PE1 5 +NX_Q9P2J8 865 99929 9.13 0 Cytoplasmic vesicle;Nucleus NA PE1 17 +NX_Q9P2J9 529 59978 5.69 0 Mitochondrion matrix;Mitochondrion NA PE1 16 +NX_Q9P2K1 1620 186185 6.3 0 Cytoplasm;Cilium basal body COACH syndrome;Joubert syndrome 9;Meckel syndrome 6 PE1 4 +NX_Q9P2K2 825 93572 5.1 0 Mitochondrion;Endoplasmic reticulum lumen;Secreted NA PE1 14 +NX_Q9P2K3 495 55581 8.26 0 Nucleolus;Nucleus NA PE1 1 +NX_Q9P2K5 600 64122 8.86 0 Nucleoplasm;Nucleus NA PE1 15 +NX_Q9P2K6 505 56868 5.52 0 Cytoplasm;Spindle NA PE1 12 +NX_Q9P2K8 1649 186911 5.88 0 Cytosol;Cytoplasm Pulmonary venoocclusive disease 2, autosomal recessive PE1 15 +NX_Q9P2K9 1392 153048 7.5 12 Endoplasmic reticulum membrane;Nucleus membrane;Cytosol;Nucleoplasm;Membrane;Cytoplasmic vesicle membrane NA PE1 1 +NX_Q9P2L0 1181 133547 5.98 0 Centrosome;Cilium axoneme;Cilium basal body Cranioectodermal dysplasia 2;Short-rib thoracic dysplasia 7/20 with polydactyly, digenic;Short-rib thoracic dysplasia 7 with or without polydactyly PE1 2 +NX_Q9P2M1 347 39780 7.99 0 Cytoplasm NA PE1 4 +NX_Q9P2M4 693 78137 6.57 0 Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus;cis-Golgi network;trans-Golgi network NA PE1 4 +NX_Q9P2M7 1197 136386 5.46 0 Cell membrane;Cell junction;Tight junction NA PE1 1 +NX_Q9P2N2 729 82060 7.62 0 Cell junction NA PE1 18 +NX_Q9P2N4 1935 216491 8.13 0 Cytoplasmic vesicle;Endoplasmic reticulum;Extracellular matrix NA PE1 3 +NX_Q9P2N5 1060 118718 9.24 0 Cytoplasm;Nucleus speckle NA PE1 5 +NX_Q9P2N6 904 95992 9.46 0 Nucleus NA PE1 2 +NX_Q9P2N7 655 73868 6.17 0 NA NA PE1 X +NX_Q9P2P1 1898 208366 8.27 2 Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus;Membrane NA PE1 14 +NX_Q9P2P5 1572 175769 5.26 0 Cytoplasm;Spindle;Nucleolus;Endoplasmic reticulum Neurodevelopmental disorder with hypotonia, seizures, and absent language PE1 2 +NX_Q9P2P6 4700 516343 5.91 0 Centriole;Cytoskeleton;Nucleus NA PE1 15 +NX_Q9P2Q2 1039 115458 8.98 0 Adherens junction;Cytoskeleton;Nucleus;Tight junction;Golgi apparatus Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia PE1 10 +NX_Q9P2R3 1169 128399 5.7 0 Endosome membrane;Cytoplasm;Endosome;Early endosome NA PE1 17 +NX_Q9P2R6 1566 172424 7.44 0 Nucleus Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart PE1 1 +NX_Q9P2R7 463 50317 7.05 0 Mitochondrion Mitochondrial DNA depletion syndrome 5 PE1 13 +NX_Q9P2S2 1712 184982 5.61 1 Membrane NA PE1 11 +NX_Q9P2S5 460 51588 6.37 0 Nucleoplasm;Cytoplasm;Centrosome;Centriole;Centriolar satellite;Cell junction NA PE1 1 +NX_Q9P2S6 941 105516 6.28 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q9P2T0 379 43444 9.17 0 Nucleus NA PE1 19 +NX_Q9P2T1 348 37874 6.8 0 Nucleoplasm;Nucleolus NA PE1 14 +NX_Q9P2U7 560 61613 7.2 12 Synaptosome;Synaptic vesicle membrane;Membrane NA PE1 19 +NX_Q9P2U8 582 64392 6.62 12 Synaptosome;Synaptic vesicle membrane;Membrane NA PE1 11 +NX_Q9P2V4 623 68041 8.9 1 Endoplasmic reticulum membrane NA PE1 10 +NX_Q9P2W1 217 24906 7.62 0 Nucleoplasm;Nucleus Ovarian dysgenesis 3 PE1 17 +NX_Q9P2W3 67 7949 5.05 0 Cell membrane NA PE1 16 +NX_Q9P2W6 132 14447 9.55 0 Cytoplasm NA PE2 11 +NX_Q9P2W7 334 38256 9.64 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus membrane;Secreted NA PE1 11 +NX_Q9P2W9 335 38674 5.36 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane NA PE1 4 +NX_Q9P2X0 92 10094 5.66 2 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1O PE1 1 +NX_Q9P2X3 320 36476 4.86 0 Nucleoplasm;Cytoplasm NA PE1 18 +NX_Q9P2X7 70 7542 7.93 0 NA NA PE2 9 +NX_Q9P2X8 69 7854 7.77 0 NA NA PE5 9 +NX_Q9P2Y4 722 76877 9.56 0 Nucleus NA PE1 14 +NX_Q9P2Y5 699 78151 8.56 0 Late endosome;Lysosome;Endoplasmic reticulum;Early endosome;Centromere;Midbody NA PE1 11 +NX_Q9P2Z0 257 28351 8.95 0 Cytosol;Nucleoplasm NA PE1 15 +NX_Q9QC07 812 91948 9.21 0 NA NA PE3 1 +NX_Q9TNN7 366 40912 7.11 1 Membrane NA PE1 6 +NX_Q9TQE0 266 29826 7.67 1 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA PE1 6 +NX_Q9UBA6 75 8344 5.78 0 NA NA PE2 6 +NX_Q9UBB4 475 53489 5.12 0 Cytosol;Cytoplasm;Perinuclear region;Cell membrane Spinocerebellar ataxia 10 PE1 22 +NX_Q9UBB5 411 43255 10.06 0 Nucleoplasm;Nucleus NA PE1 18 +NX_Q9UBB6 729 78864 5.34 0 Cytosol;Dendrite NA PE1 1 +NX_Q9UBB9 837 96820 5.45 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 22 +NX_Q9UBC0 465 51023 9.71 0 Nucleus NA PE1 15 +NX_Q9UBC1 381 43204 6.86 0 Nucleus Rheumatoid arthritis PE1 6 +NX_Q9UBC2 864 94255 4.93 0 Cytoplasmic vesicle;Coated pit;Nucleus;Cell membrane NA PE1 19 +NX_Q9UBC3 853 95751 8.74 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus Immunodeficiency-centromeric instability-facial anomalies syndrome 1;Facioscapulohumeral muscular dystrophy 2 PE1 20 +NX_Q9UBC5 1043 118401 9.37 0 NA NA PE1 12 +NX_Q9UBC7 116 12545 5.86 0 Secreted NA PE2 19 +NX_Q9UBC9 169 18154 8.86 0 Cytoplasm NA PE1 1 +NX_Q9UBD0 423 46742 6.63 0 Cytoplasm;Nucleus NA PE1 X +NX_Q9UBD3 114 12567 10.62 0 Secreted NA PE1 1 +NX_Q9UBD5 711 82254 7.54 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 6 +NX_Q9UBD6 479 53179 5.93 12 Apical cell membrane NA PE1 15 +NX_Q9UBD9 225 25176 8.68 0 Cytoplasmic vesicle;Nucleus;Secreted Crisponi/Cold-induced sweating syndrome 2 PE1 11 +NX_Q9UBE0 346 38450 5.17 0 Nucleus NA PE1 19 +NX_Q9UBE8 527 58283 8.35 0 Cytoplasm;Nucleolus;Nucleus;Cell junction NA PE1 17 +NX_Q9UBF1 373 41163 4.26 0 Cytosol;Cytoplasm;Nucleolus;Nucleus NA PE1 X +NX_Q9UBF2 871 97622 5.56 0 Cytosol;COPI-coated vesicle membrane;Golgi apparatus membrane NA PE1 7 +NX_Q9UBF6 113 12683 5.24 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 3 +NX_Q9UBF8 816 91379 5.86 0 Golgi apparatus;Endomembrane system;Perinuclear region;Rough endoplasmic reticulum membrane;Golgi apparatus membrane;Mitochondrion outer membrane NA PE1 1 +NX_Q9UBF9 498 55395 9.18 0 Cytoskeleton;Sarcolemma;Z line Spheroid body myopathy;Myopathy, myofibrillar, 3;Limb-girdle muscular dystrophy 1A PE1 5 +NX_Q9UBG0 1479 166674 5.54 1 Membrane NA PE1 17 +NX_Q9UBG3 495 53533 5.73 0 Cytoplasm NA PE1 1 +NX_Q9UBG7 517 56751 7.86 0 Nucleus NA PE2 20 +NX_Q9UBH0 155 16962 5.12 0 Secreted Psoriasis 14, pustular PE1 2 +NX_Q9UBH6 696 81535 8.68 8 Cell membrane Basal ganglia calcification, idiopathic, 6 PE1 1 +NX_Q9UBI1 195 22151 5.62 0 Cytoplasm;Nucleus NA PE1 10 +NX_Q9UBI4 398 42968 8.18 1 Cytosol;Cell membrane;Cytoplasmic vesicle;Late endosome membrane;Membrane;Membrane raft NA PE1 15 +NX_Q9UBI6 72 8006 9.14 0 Mitochondrion;Cell membrane NA PE1 1 +NX_Q9UBI9 543 58837 8.89 0 NA NA PE1 6 +NX_Q9UBJ2 740 83233 9.04 4 Peroxisome membrane NA PE1 12 +NX_Q9UBK2 798 91027 5.71 0 Nucleoplasm;Cytoplasm;Nucleus;PML body NA PE1 4 +NX_Q9UBK5 93 9489 8.63 1 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Membrane NA PE1 19 +NX_Q9UBK7 228 26115 4.75 0 NA NA PE1 2 +NX_Q9UBK8 725 80410 6.05 0 Cytosol;Nucleoplasm;Cytoskeleton;Cytoplasm Homocystinuria-megaloblastic anemia, cblE complementation type;Neural tube defects, folate-sensitive PE1 5 +NX_Q9UBK9 157 18246 7.02 0 Cytosol;Cytoplasm;Spindle pole;Microtubule organizing center;Nucleus;Centrosome NA PE1 X +NX_Q9UBL0 812 89196 6.51 0 Cytosol;Cytoplasm;Nucleolus NA PE1 3 +NX_Q9UBL3 628 68723 5.45 0 Nucleoplasm;Nucleus;Cell membrane NA PE1 8 +NX_Q9UBL6 633 70294 5.97 0 Cytoplasm;Nucleus;Cell membrane NA PE1 16 +NX_Q9UBL9 471 51754 8.4 2 Cell membrane Deafness, autosomal dominant, 41 PE1 12 +NX_Q9UBM1 199 22134 8.89 3 Endoplasmic reticulum membrane;Cytosol;Mitochondrion membrane NA PE1 17 +NX_Q9UBM4 332 37261 5.39 0 Extracellular matrix NA PE1 1 +NX_Q9UBM7 475 54489 8.95 7 Endoplasmic reticulum membrane;Cytosol;Endoplasmic reticulum Smith-Lemli-Opitz syndrome PE1 11 +NX_Q9UBM8 478 56061 8.28 1 Golgi apparatus membrane NA PE2 12 +NX_Q9UBN1 327 36579 9.23 4 Cytosol;Cell membrane NA PE1 17 +NX_Q9UBN4 977 112101 7.81 6 Cell membrane;Membrane NA PE1 13 +NX_Q9UBN6 386 41823 6.19 1 Cytoskeleton;Cell membrane;Membrane NA PE1 8 +NX_Q9UBN7 1215 131419 5.14 0 Perikaryon;Nucleoplasm;Cytoplasm;Axon;Dendrite;Nucleus Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia PE1 X +NX_Q9UBP0 616 67197 9.67 0 Endoplasmic reticulum membrane;Nucleoplasm;Endosome;Nucleus membrane;Cytosol;Cytoplasm;Lipid droplet;Endoplasmic reticulum;Centrosome;Spindle;Perinuclear region;Nucleus;Membrane;Cytoskeleton;Midbody Spastic paraplegia 4, autosomal dominant PE1 2 +NX_Q9UBP4 350 38390 4.59 0 Cytoplasmic vesicle;Secreted NA PE1 11 +NX_Q9UBP5 337 35808 8.31 0 Nucleus NA PE1 6 +NX_Q9UBP6 276 31471 7.19 0 Nucleus NA PE1 12 +NX_Q9UBP8 84 8969 9.51 0 NA NA PE2 6 +NX_Q9UBP9 304 34490 8.04 0 Cytoplasmic vesicle;Cytoplasm NA PE1 2 +NX_Q9UBQ0 182 20506 6.29 0 Cytoplasmic vesicle;Endosome;Late endosome;Lysosome;Cytosol;Cytoplasm;Membrane;Endosome membrane;Early endosome NA PE1 12 +NX_Q9UBQ5 218 25060 4.81 0 Cytosol;Cytoplasm;Nucleus NA PE1 19 +NX_Q9UBQ6 330 37466 9.08 1 Endoplasmic reticulum membrane;Cytosol;Nucleus;Secreted NA PE1 1 +NX_Q9UBQ7 328 35668 7.01 0 Cytosol;Nucleoplasm Hyperoxaluria primary 2 PE1 9 +NX_Q9UBR1 384 43166 6.09 0 Cytoplasm Beta-ureidopropionase deficiency PE1 22 +NX_Q9UBR2 303 33868 6.7 0 Cytoplasmic vesicle;Endoplasmic reticulum;Lysosome NA PE1 20 +NX_Q9UBR4 397 43358 8.47 0 Nucleus Pituitary hormone deficiency, combined, 3 PE1 9 +NX_Q9UBR5 152 17170 9.41 3 Cytoplasmic vesicle;Membrane;Secreted NA PE1 16 +NX_Q9UBS0 482 53455 6.91 0 Cytosol;Cytoplasm;Nucleus NA PE1 11 +NX_Q9UBS3 223 25518 8.37 0 Cytosol;Endoplasmic reticulum lumen;Endoplasmic reticulum NA PE1 7 +NX_Q9UBS4 358 40514 5.81 0 Endoplasmic reticulum lumen;Endoplasmic reticulum Polycystic kidney disease 6 with or without polycystic liver disease PE1 3 +NX_Q9UBS5 961 108320 8.49 7 Dendrite;Postsynaptic cell membrane;Centrosome;Cell membrane;Secreted NA PE1 6 +NX_Q9UBS8 474 53837 4.66 0 Cytosol;Cytoplasm;Nucleus NA PE1 5 +NX_Q9UBS9 1254 139430 4.93 1 Cytosol;Nucleolus;Rough endoplasmic reticulum membrane NA PE1 1 +NX_Q9UBT2 640 71224 5.15 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 19 +NX_Q9UBT3 224 24876 8.81 0 Secreted NA PE1 8 +NX_Q9UBT6 870 98809 8.42 0 Nucleoplasm;Nucleus NA PE1 5 +NX_Q9UBT7 734 81896 6.22 0 Cytoskeleton;Cell membrane NA PE1 9 +NX_Q9UBU2 259 28447 9.34 0 Golgi apparatus;Secreted NA PE1 4 +NX_Q9UBU3 117 12911 5.35 0 Secreted NA PE1 3 +NX_Q9UBU6 413 44123 6.76 3 Golgi apparatus;Membrane NA PE1 6 +NX_Q9UBU7 674 76858 8.03 0 Nucleus NA PE1 7 +NX_Q9UBU8 362 41474 9.29 0 Nucleus speckle;Nucleus NA PE1 15 +NX_Q9UBU9 619 70182 8.74 0 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA PE1 11 +NX_Q9UBV2 794 88755 5.23 1 Endoplasmic reticulum membrane NA PE1 14 +NX_Q9UBV4 365 40690 8.97 0 Extracellular matrix NA PE1 7 +NX_Q9UBV7 327 37406 9.18 1 Golgi stack membrane Ehlers-Danlos syndrome, spondylodysplastic type, 1 PE1 5 +NX_Q9UBV8 284 30381 6.1 0 COPII-coated vesicle membrane;Cytosol;Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleoplasm;Membrane NA PE1 1 +NX_Q9UBW5 565 61874 5.11 0 Cytoplasm;Podosome membrane;Phagocytic cup;Cell cortex NA PE1 12 +NX_Q9UBW7 1377 154911 5.95 0 Nucleoplasm;Nucleus;Endoplasmic reticulum NA PE1 13 +NX_Q9UBW8 275 30277 8.33 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 12 +NX_Q9UBX0 185 21409 9.01 0 Nucleus Septooptic dysplasia;Pituitary hormone deficiency, combined, 5;Growth hormone deficiency with pituitary anomalies PE1 3 +NX_Q9UBX1 484 53366 8.52 0 Cytoplasmic vesicle;Cytosol;Cell membrane;Lysosome Ceroid lipofuscinosis, neuronal, 13 PE1 11 +NX_Q9UBX2 424 44940 8.72 0 Nucleus Facioscapulohumeral muscular dystrophy 1 PE1 4 +NX_Q9UBX3 287 31282 9.62 6 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA PE1 17 +NX_Q9UBX5 448 50180 4.58 0 Secreted;Cell membrane;Extracellular matrix Macular degeneration, age-related, 3;Neuropathy, hereditary, with or without age-related macular degeneration;Cutis laxa, autosomal recessive, 1A;Cutis laxa, autosomal dominant, 2 PE1 14 +NX_Q9UBX7 282 31059 9.23 0 Golgi apparatus;Secreted NA PE1 19 +NX_Q9UBX8 382 44914 8.59 1 Golgi stack membrane NA PE1 18 +NX_Q9UBY0 812 91520 9.2 10 Cell junction;Membrane NA PE1 2 +NX_Q9UBY5 353 40128 9.53 7 Cell membrane NA PE1 1 +NX_Q9UBY8 286 32787 8.47 5 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum Ceroid lipofuscinosis, neuronal, 8;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant PE1 8 +NX_Q9UBY9 170 18611 6.04 0 Nucleoplasm;Cytoplasm;Nucleus;Cajal body NA PE1 1 +NX_Q9UBZ4 518 57401 8.65 0 Cytoplasmic vesicle;Mitochondrion;Nucleolus;Nucleus;Cytoplasm NA PE1 X +NX_Q9UBZ9 1251 138248 8.76 0 Cytosol;Nucleus NA PE1 2 +NX_Q9UC06 446 50802 8.68 0 Cytosol;Nucleus NA PE1 22 +NX_Q9UC07 566 65761 9.13 0 Nucleus NA PE1 19 +NX_Q9UD57 310 32381 9.7 0 Nucleus NA PE1 10 +NX_Q9UD71 204 22963 4.48 0 Cytoplasm NA PE1 17 +NX_Q9UDR5 926 102132 6.18 0 Cytoplasmic vesicle;Mitochondrion Hyperlysinemia, 1;2,4-dienoyl-CoA reductase deficiency PE1 7 +NX_Q9UDT6 1046 115837 6.29 0 Cytoplasm;Cytoskeleton NA PE1 7 +NX_Q9UDV6 495 55447 6.97 0 Nucleus NA PE1 7 +NX_Q9UDV7 671 74295 5.62 0 Cytosol;Nucleoplasm;Nucleus NA PE1 7 +NX_Q9UDW1 63 7308 9.45 0 Mitochondrion inner membrane NA PE1 22 +NX_Q9UDW3 170 19971 8.85 0 Nucleoplasm;Nucleus NA PE1 22 +NX_Q9UDX3 406 46644 6.16 0 Centrosome NA PE1 22 +NX_Q9UDX4 400 46048 5.79 0 NA NA PE1 22 +NX_Q9UDX5 166 18010 9.33 3 Mitochondrion;Mitochondrion inner membrane NA PE1 22 +NX_Q9UDY2 1190 133958 6.96 0 Nucleoplasm;Cell membrane;Cytosol;Nucleus;Adherens junction;Cell junction;Tight junction Cholestasis, progressive familial intrahepatic, 4;Familial hypercholanemia PE1 9 +NX_Q9UDY4 337 37807 8.65 0 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA PE1 1 +NX_Q9UDY6 481 55037 5.69 0 Cytoplasm NA PE1 6 +NX_Q9UDY8 824 92272 5.47 0 Cytosol;Perinuclear region;Nucleolus;Nucleus Immunodeficiency 12 PE1 18 +NX_Q9UEE5 414 46558 5.08 0 Nucleus speckle;Nucleus;Cell membrane NA PE1 7 +NX_Q9UEE9 299 33593 4.77 0 Cytoplasmic vesicle;Kinetochore;Nucleoplasm NA PE1 16 +NX_Q9UEF7 1012 116181 8.06 1 Apical cell membrane;Cell membrane;Secreted Tumoral calcinosis, hyperphosphatemic, familial, 3 PE1 13 +NX_Q9UEG4 869 96620 8.24 0 Nucleus;Golgi apparatus NA PE1 16 +NX_Q9UER7 740 81373 4.8 0 PML body;Nucleolus;Nucleoplasm;Cytoplasm;Nucleus;Centromere NA PE1 6 +NX_Q9UET6 329 36079 5.42 0 Cytosol;Cytoplasm Mental retardation, X-linked 44 PE1 X +NX_Q9UEU0 232 26688 9.02 1 Lysosome membrane;Golgi apparatus;Early endosome membrane;Cytoplasmic vesicle;Cytoplasmic granule;Late endosome membrane;Recycling endosome membrane NA PE1 14 +NX_Q9UEU5 116 12764 4.23 0 NA NA PE1 X +NX_Q9UEW3 520 52658 8.95 1 Cytoplasmic vesicle;Golgi apparatus;Cell membrane NA PE1 2 +NX_Q9UEW8 545 59474 5.92 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA PE1 2 +NX_Q9UEY8 706 79155 5.92 0 Cytoskeleton;Cell membrane Cerebral palsy, spastic quadriplegic 3 PE1 10 +NX_Q9UF02 275 30903 6.94 4 Postsynaptic density;Membrane NA PE2 17 +NX_Q9UF11 243 27186 7 0 Cytoplasm;Membrane NA PE1 11 +NX_Q9UF12 536 58871 8.94 0 Nucleoplasm;Cytosol NA PE1 19 +NX_Q9UF33 1036 116379 6.55 1 Nucleoplasm;Membrane NA PE1 3 +NX_Q9UF47 199 22496 5.16 0 Cytoplasmic vesicle;Membrane NA PE1 8 +NX_Q9UF56 701 75695 8.49 0 Cytoplasm;Nucleus NA PE1 5 +NX_Q9UF83 564 59412 13.06 0 NA NA PE1 13 +NX_Q9UFB7 747 82760 5.52 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q9UFC0 647 70861 6.88 0 Kinetochore;Nucleolus;Telomere;Cytoplasmic vesicle;Nucleus;Centromere;Centrosome NA PE1 7 +NX_Q9UFD9 1639 180717 6.46 0 Cytoskeleton NA PE1 22 +NX_Q9UFE4 941 109901 6.1 0 Mitochondrion;Cilium axoneme Ciliary dyskinesia, primary, 14 PE1 3 +NX_Q9UFF9 292 33540 4.69 0 Cytoplasm;Nucleus NA PE1 5 +NX_Q9UFG5 118 12878 5.03 0 Cytoskeleton NA PE1 19 +NX_Q9UFH2 4462 509313 5.52 0 Nucleoplasm;Cilium axoneme;Cell membrane NA PE1 17 +NX_Q9UFN0 247 28467 9.21 0 Cytosol NA PE1 9 +NX_Q9UFP1 575 63637 7.1 0 Cytoplasmic vesicle;Secreted NA PE1 3 +NX_Q9UFV1 150 16280 9.33 0 NA NA PE2 17 +NX_Q9UFV3 132 14889 10.08 0 NA NA PE5 15 +NX_Q9UFW8 167 18820 9.14 0 Nucleus NA PE1 3 +NX_Q9UG01 1749 197576 5.78 0 Cytoplasmic vesicle;Cilium Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71 PE1 2 +NX_Q9UG22 337 38017 8.6 2 Cytoplasm;Lipid droplet;Membrane NA PE1 7 +NX_Q9UG56 409 46672 9.51 1 Cytosol;Mitochondrion inner membrane;Golgi apparatus NA PE1 22 +NX_Q9UG63 623 71290 6.95 0 Cytosol NA PE1 7 +NX_Q9UGB4 50 5874 4.33 0 NA NA PE4 20 +NX_Q9UGB7 285 33010 5.5 0 Cytoplasm NA PE1 22 +NX_Q9UGC6 210 24359 5.56 0 Cytoplasmic vesicle;Synaptosome;Cytoplasm;Nucleus;Membrane NA PE1 6 +NX_Q9UGC7 380 43600 8.36 0 Mitochondrion NA PE1 6 +NX_Q9UGF5 321 35892 8.9 7 Cell membrane NA PE2 6 +NX_Q9UGF6 321 36057 8.79 7 Cell membrane NA PE2 6 +NX_Q9UGF7 316 35791 8.86 7 Cell membrane NA PE2 6 +NX_Q9UGH3 650 70337 7.83 12 Cytoplasmic vesicle;Golgi apparatus;Cell membrane NA PE1 20 +NX_Q9UGI0 708 80967 5.48 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 10 +NX_Q9UGI6 731 81385 9.12 6 Nucleoplasm;Membrane NA PE1 1 +NX_Q9UGI8 421 47996 7.96 0 Cytosol;Cytoplasm;Focal adhesion;Cell junction;Cell membrane NA PE1 7 +NX_Q9UGI9 489 54258 5.59 0 NA NA PE1 2 +NX_Q9UGJ0 569 63066 9.37 0 Nucleoplasm Wolff-Parkinson-White syndrome;Glycogen storage disease of heart lethal congenital;Cardiomyopathy, familial hypertrophic 6 PE1 7 +NX_Q9UGJ1 667 76089 6.17 0 Centrosome Microcephaly and chorioretinopathy, autosomal recessive, 3 PE1 15 +NX_Q9UGK3 403 44894 8.34 0 Cytoplasm NA PE1 19 +NX_Q9UGK8 458 48981 6.01 0 Nucleoplasm;Cytosol;Cytoplasmic vesicle;Nucleus;Cytoplasm NA PE1 11 +NX_Q9UGL1 1544 175658 6.29 0 Nucleus NA PE1 1 +NX_Q9UGL9 99 9736 9.13 0 NA NA PE1 1 +NX_Q9UGM1 479 54807 6.04 4 Postsynaptic cell membrane;Cell membrane NA PE1 4 +NX_Q9UGM3 2413 260735 5.18 0 Secreted;Microtubule organizing center Glioma PE1 10 +NX_Q9UGM5 382 42055 6.46 0 Secreted NA PE1 3 +NX_Q9UGM6 360 40147 9.31 0 Mitochondrion;Mitochondrion matrix;Cell membrane Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures PE1 1 +NX_Q9UGN4 299 33201 5.35 1 Cell membrane NA PE1 17 +NX_Q9UGN5 583 66206 9.02 0 Nucleolus;Nucleus NA PE1 14 +NX_Q9UGP4 676 72190 6.2 0 Cytoplasm;Focal adhesion;P-body;Nucleus;Adherens junction NA PE1 3 +NX_Q9UGP5 575 63482 7.96 0 Nucleus;Golgi apparatus NA PE1 10 +NX_Q9UGP8 760 87997 5.21 3 Endoplasmic reticulum membrane;Endoplasmic reticulum Polycystic liver disease 2 with or without kidney cysts PE1 6 +NX_Q9UGQ2 172 18470 5.37 3 Nucleoplasm;Membrane NA PE1 9 +NX_Q9UGQ3 507 54539 8.9 12 Cell membrane NA PE1 9 +NX_Q9UGR2 977 109858 6.94 0 Cytosol;Nucleus NA PE1 22 +NX_Q9UGT4 822 90208 5.84 1 Cell membrane NA PE1 22 +NX_Q9UGU0 1960 211771 9.16 0 Nucleoplasm;Nucleus NA PE1 22 +NX_Q9UGU5 601 65712 9.35 0 Nucleus NA PE1 22 +NX_Q9UGV2 375 41409 5.12 0 NA NA PE1 20 +NX_Q9UGY1 213 24663 10.22 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA PE1 22 +NX_Q9UH03 358 40704 6.74 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Synapse;Cell membrane NA PE1 22 +NX_Q9UH17 382 45924 5.74 0 Nucleus NA PE1 22 +NX_Q9UH36 339 38573 5.31 0 Cytosol NA PE1 22 +NX_Q9UH62 379 42501 8.6 1 Golgi apparatus;Cytosol;Cytoplasm;Mitochondrion outer membrane;Nucleoplasm;Nucleus NA PE1 X +NX_Q9UH64 79 8851 11.58 0 NA NA PE4 9 +NX_Q9UH65 585 68998 5.66 0 Lamellipodium;Cytoskeleton;Nucleus;Cell membrane;Cytoplasm NA PE1 11 +NX_Q9UH73 591 64464 9 0 Nucleus NA PE1 5 +NX_Q9UH77 587 64970 5.29 0 Cytosol;Cytoskeleton Pseudohypoaldosteronism 2D PE1 5 +NX_Q9UH90 709 79782 6.69 0 Cytoplasm NA PE1 3 +NX_Q9UH92 298 33300 8.18 0 Cytosol;Cytoplasm;Nucleus;Nucleus membrane;Nucleoplasm NA PE1 17 +NX_Q9UH99 717 80311 6.27 1 Endosome membrane;Nucleus inner membrane;Nucleus envelope;Nucleus membrane NA PE1 22 +NX_Q9UHA2 77 8835 5.62 0 Mitochondrion;Nucleolus;Nucleus NA PE1 3 +NX_Q9UHA3 163 19621 9.99 0 Nucleolus;Nucleus NA PE1 15 +NX_Q9UHA4 124 13623 6.72 0 Late endosome membrane NA PE1 4 +NX_Q9UHA7 158 17684 5.89 0 Secreted NA PE1 2 +NX_Q9UHB4 597 66763 5.95 0 Cytosol;Perinuclear region;Nucleus;Cytoskeleton NA PE1 9 +NX_Q9UHB6 759 85226 6.41 0 Stress fiber;Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Cytoskeleton NA PE1 12 +NX_Q9UHB7 1163 127459 9.33 0 Nucleolus;Nucleus CHOPS syndrome PE1 5 +NX_Q9UHB9 627 70730 8.75 0 Cytosol;Cytoplasm;Focal adhesion;Nucleolus NA PE1 17 +NX_Q9UHC1 1453 163711 6.33 0 Nucleus Hereditary non-polyposis colorectal cancer 7;Colorectal cancer PE1 14 +NX_Q9UHC3 531 58905 6.73 2 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA PE1 7 +NX_Q9UHC6 1331 148167 6.12 1 Paranodal septate junction;Axon;Membrane Autism 15;Pitt-Hopkins-like syndrome 1 PE1 7 +NX_Q9UHC7 482 53349 5.05 0 NA NA PE1 7 +NX_Q9UHC9 1359 148728 5.95 13 Cytoplasmic vesicle membrane;Apical cell membrane;Cell membrane NA PE1 7 +NX_Q9UHD0 177 20452 7.62 0 Secreted NA PE1 1 +NX_Q9UHD1 332 37490 8.1 0 Cytosol;Cytoplasm NA PE1 11 +NX_Q9UHD2 729 83642 6.32 0 Nucleoplasm;Cytoplasm Glaucoma 1, open angle, P;Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;Encephalopathy, acute, infection-induced, herpes-specific, 8 PE1 12 +NX_Q9UHD4 219 24678 9.01 0 NA NA PE1 14 +NX_Q9UHD8 586 65401 9.06 0 Cytoskeleton Hereditary neuralgic amyotrophy PE1 17 +NX_Q9UHD9 624 65696 5.15 0 Cytosol;Cytoplasm;Cell membrane;Nucleus;Autophagosome;Membrane Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia PE1 X +NX_Q9UHE5 227 25619 9.08 1 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 2 +NX_Q9UHE8 339 39851 9.28 6 Endosome membrane NA PE1 7 +NX_Q9UHF0 121 13438 6.74 0 Cytoplasmic vesicle;Secreted Hypogonadotropic hypogonadism 10 with or without anosmia PE1 12 +NX_Q9UHF1 273 29618 8.58 0 Extracellular space NA PE1 9 +NX_Q9UHF3 227 25366 9.39 1 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE5 2 +NX_Q9UHF4 553 62485 4.78 1 Cytosol;Membrane NA PE1 6 +NX_Q9UHF5 180 20437 9.46 0 Secreted NA PE1 5 +NX_Q9UHF7 1281 141521 7.53 0 Nucleoplasm;Nucleus Tricho-rhino-phalangeal syndrome 3;Tricho-rhino-phalangeal syndrome 2;Tricho-rhino-phalangeal syndrome 1 PE1 8 +NX_Q9UHG0 476 52834 5.84 0 Cytosol;Cilium;Cilium axoneme;Kinocilium;Cytoskeleton;Microtubule organizing center;Spindle Deafness, autosomal recessive, 66;Sclerosing cholangitis, neonatal;Nephronophthisis 19;Dyslexia 2 PE1 6 +NX_Q9UHG2 260 27372 6.22 0 Cytoplasmic vesicle;trans-Golgi network;Secreted NA PE1 X +NX_Q9UHG3 505 56640 5.8 0 Lysosome NA PE1 2 +NX_Q9UHH9 426 49186 6.37 0 Nucleolus;Nucleus;Cell junction NA PE1 3 +NX_Q9UHI5 535 58382 5.69 12 Cytoplasm;Basolateral cell membrane NA PE1 14 +NX_Q9UHI6 824 92241 6.49 0 Cytosol;Nucleoplasm;Nucleus;Gem;Cytoplasm NA PE1 1 +NX_Q9UHI7 598 64831 6.16 12 Cell membrane NA PE1 5 +NX_Q9UHI8 967 105358 6.4 0 Extracellular matrix NA PE1 21 +NX_Q9UHJ3 866 98141 5.86 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q9UHJ6 478 51491 6.35 0 Nucleoplasm;Nucleus speckle;Cytoplasm Sedoheptulokinase deficiency PE1 17 +NX_Q9UHJ9 254 29400 8.47 5 Endoplasmic reticulum membrane;Cytoskeleton;Golgi apparatus membrane Hyperphosphatasia with mental retardation syndrome 3 PE1 11 +NX_Q9UHK0 495 56300 9.21 0 Nucleolus;Nucleus NA PE1 13 +NX_Q9UHK6 382 42387 6.07 0 Mitochondrion;Cytoplasmic vesicle;Cell membrane;Peroxisome Congenital bile acid synthesis defect 4;Alpha-methylacyl-CoA racemase deficiency PE1 5 +NX_Q9UHL0 483 54692 5.89 0 Cytoplasm;Nucleus NA PE1 11 +NX_Q9UHL3 310 34712 4.68 0 NA NA PE2 5 +NX_Q9UHL4 492 54341 5.91 0 Cytoplasmic vesicle;Lysosome;Golgi apparatus;Secreted NA PE1 9 +NX_Q9UHL9 959 106057 6.45 0 Nucleoplasm;Cytosol;Nucleus NA PE1 7 +NX_Q9UHM6 478 52635 9.35 7 Cell membrane NA PE1 10 +NX_Q9UHN1 485 54911 8.64 0 Mitochondrion;Nucleus Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 PE1 17 +NX_Q9UHN6 1383 154374 8.41 1 Cytoplasmic vesicle;Cytosol;Cell membrane NA PE1 9 +NX_Q9UHP3 1055 122218 5.22 0 Cytosol;Cytoplasm;Nucleus NA PE1 21 +NX_Q9UHP6 348 38592 6.43 0 Nucleolus NA PE1 22 +NX_Q9UHP7 191 21849 6.37 1 Nucleoplasm;Endoplasmic reticulum;Golgi apparatus;Cell membrane NA PE1 12 +NX_Q9UHP9 88 9559 9.21 0 Cell membrane Deafness, X-linked, 4 PE1 X +NX_Q9UHQ1 456 51156 6.63 0 Nucleolus;Nucleus NA PE1 17 +NX_Q9UHQ4 241 28320 9.55 3 Endoplasmic reticulum membrane;Cytosol NA PE1 7 +NX_Q9UHQ7 104 12749 5.35 0 Cytosol;Nucleoplasm;Nucleus NA PE1 X +NX_Q9UHQ9 305 34095 9.41 1 Cytosol;Mitochondrion;Nucleolus;Membrane NA PE1 1 +NX_Q9UHR4 511 56883 8.82 0 Cytosol;Cytoskeleton;Cell membrane NA PE1 7 +NX_Q9UHR5 308 33870 4.74 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 17 +NX_Q9UHR6 403 42884 5.69 0 NA NA PE1 11 +NX_Q9UHT4 67 8314 10.1 0 NA NA PE5 7 +NX_Q9UHU1 43 4899 8.16 0 NA NA PE5 11 +NX_Q9UHV2 236 24704 4.29 0 Nucleoplasm;Golgi apparatus NA PE1 19 +NX_Q9UHV5 662 73265 5.94 0 Cytoskeleton;Nucleus NA PE1 17 +NX_Q9UHV7 2174 239297 5.4 0 Nucleus NA PE1 17 +NX_Q9UHV8 139 16119 5.43 0 Cytoplasm;Nucleus matrix NA PE1 19 +NX_Q9UHV9 154 16648 6.2 0 Mitochondrion;Cytoplasm;Nucleus;Cytosol NA PE1 1 +NX_Q9UHW5 284 32761 4.38 0 Cytosol;Nucleus speckle NA PE1 12 +NX_Q9UHW9 1150 127617 6.64 12 Cytosol;Cytoplasmic vesicle;Basolateral cell membrane Agenesis of the corpus callosum, with peripheral neuropathy PE1 15 +NX_Q9UHX1 559 59875 5.19 0 Nucleoplasm;Cytoplasm;Nucleus Verheij syndrome PE1 8 +NX_Q9UHX3 823 90472 6.47 7 Cytoplasmic vesicle;Ruffle membrane;Cell membrane Vibratory urticaria PE1 19 +NX_Q9UHY1 535 59845 5.02 0 Cytosol;Lamellipodium;Cell cortex;Endomembrane system NA PE1 2 +NX_Q9UHY7 261 28933 4.66 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 4 +NX_Q9UHY8 353 39666 4.52 0 Cytosol;Nucleolus;Golgi apparatus NA PE1 2 +NX_Q9UI08 416 44620 8.91 0 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Stress fiber;Lamellipodium NA PE1 14 +NX_Q9UI09 145 17114 9.63 0 Mitochondrion;Mitochondrion inner membrane Leigh syndrome PE1 12 +NX_Q9UI10 523 57557 9.45 0 Cytoskeleton;Nucleus membrane Leukodystrophy with vanishing white matter PE1 2 +NX_Q9UI12 483 55883 6.07 0 Cytosol;Cytoskeleton NA PE1 8 +NX_Q9UI14 185 20648 6.83 4 Nucleolus;Nucleus membrane;Golgi apparatus;Cytoplasm;Cell membrane;Synaptic vesicle NA PE1 19 +NX_Q9UI15 199 22473 6.84 0 NA NA PE1 3 +NX_Q9UI17 866 96811 7.31 0 Mitochondrion DMGDH deficiency PE1 5 +NX_Q9UI25 63 6971 6.23 0 NA NA PE5 16 +NX_Q9UI26 975 112535 5.14 0 Cytoplasm;Nucleolus;Nucleus NA PE1 5 +NX_Q9UI30 125 14199 5.21 0 Nucleoplasm;Perinuclear region;Nucleus;Cytoskeleton NA PE1 11 +NX_Q9UI32 602 66323 6.9 0 Mitochondrion NA PE1 12 +NX_Q9UI33 1791 204922 8.32 24 Cell membrane Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, 7 PE1 3 +NX_Q9UI36 758 78562 8.75 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 13 +NX_Q9UI38 385 43088 8.58 0 Endoplasmic reticulum NA PE1 3 +NX_Q9UI40 661 73664 5.71 11 Membrane NA PE1 9 +NX_Q9UI42 421 47351 6.23 0 Cytosol;Nucleoplasm;Centrosome;Secreted NA PE1 7 +NX_Q9UI43 246 27424 9.6 0 Mitochondrion NA PE1 7 +NX_Q9UI46 699 79283 6.4 0 Cilium;Cilium axoneme Kartagener syndrome;Ciliary dyskinesia, primary, 1 PE1 9 +NX_Q9UI47 895 99809 5.83 0 Cytoskeleton Arrhythmogenic right ventricular dysplasia, familial, 13 PE1 10 +NX_Q9UI54 55 6387 10.3 0 NA NA PE5 20 +NX_Q9UI72 69 8249 9.35 0 NA NA PE5 5 +NX_Q9UI95 211 24334 6.05 0 Nucleolus;Cytosol;Cytoplasm;Nucleus;Spindle;Chromosome Fanconi anemia, complementation group V PE1 1 +NX_Q9UIA0 394 45672 6.08 0 Cell membrane NA PE1 22 +NX_Q9UIA9 1087 123907 5.91 0 Cytoplasm;Nuclear pore complex;Nucleus NA PE1 8 +NX_Q9UIB8 345 38782 6.61 1 Cell membrane NA PE1 1 +NX_Q9UIC8 334 38379 5.73 0 Cytosol;Nucleoplasm NA PE1 16 +NX_Q9UID3 782 86042 6.06 0 Cytoplasmic vesicle;Recycling endosome;Nucleolus;trans-Golgi network;Golgi apparatus NA PE1 11 +NX_Q9UID6 485 56054 5.3 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q9UIE0 474 54542 8.75 0 Mitochondrion;Nucleus NA PE1 19 +NX_Q9UIF3 430 49672 5.39 0 Cytoskeleton;Flagellum axoneme;Cilium axoneme;Microtubule organizing center NA PE1 1 +NX_Q9UIF7 546 60069 8.99 0 Mitochondrion;Nucleus Gastric cancer;Familial adenomatous polyposis 2 PE1 1 +NX_Q9UIF8 2168 240459 6.13 0 Cytosol;Nucleoplasm;Nucleus NA PE1 2 +NX_Q9UIF9 1905 211198 6.22 0 Nucleus speckle;Nucleolus NA PE1 12 +NX_Q9UIG0 1483 170903 8.7 0 Nucleus NA PE1 7 +NX_Q9UIG4 136 15101 4.48 0 Secreted NA PE2 6 +NX_Q9UIG5 152 16580 5.93 0 Nucleus NA PE2 6 +NX_Q9UIG8 710 76553 6.34 12 Cell membrane NA PE1 15 +NX_Q9UIH9 416 43992 8.48 0 Nucleus NA PE1 3 +NX_Q9UII2 106 12249 9.34 0 Mitochondrion NA PE1 1 +NX_Q9UII4 1024 116852 7.71 0 Perinuclear region NA PE1 4 +NX_Q9UII5 783 90673 9.43 0 Nucleus NA PE1 7 +NX_Q9UII6 198 22149 9.27 0 NA NA PE1 10 +NX_Q9UIJ5 367 42022 8.7 4 Membrane NA PE1 8 +NX_Q9UIJ7 227 25565 9.15 0 Mitochondrion matrix;Mitochondrion NA PE1 9 +NX_Q9UIK4 370 42898 6.45 0 Autophagosome lumen;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus NA PE1 15 +NX_Q9UIK5 374 41428 5.01 1 Cytoskeleton;Membrane;Secreted NA PE1 2 +NX_Q9UIL1 159 18045 9 0 Cytosol;Nucleoplasm;Golgi apparatus membrane;Golgi apparatus;trans-Golgi network NA PE1 4 +NX_Q9UIL4 384 40686 8.61 0 Centrosome NA PE2 6 +NX_Q9UIL8 331 37582 7.87 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE1 13 +NX_Q9UIM3 349 38176 5.38 0 Nucleoplasm NA PE1 6 +NX_Q9UIQ6 1025 117349 5.5 1 Cell membrane;Secreted NA PE1 5 +NX_Q9UIR0 455 50436 4.96 1 Membrane Sarcoidosis 2 PE2 6 +NX_Q9UIS9 605 66607 9.32 0 Nucleus speckle;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Nucleus matrix;Chromosome NA PE1 18 +NX_Q9UIU6 781 82933 5.45 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 14 +NX_Q9UIV1 285 32745 4.77 0 P-body;Nucleus NA PE1 8 +NX_Q9UIV8 391 44276 5.48 0 Cytosol;Cytoplasm;Nucleus speckle NA PE1 18 +NX_Q9UIW0 290 30874 9.56 0 Nucleus speckle;Nucleus NA PE1 2 +NX_Q9UIW2 1896 211067 6.49 1 Cytosol;Nucleus;Cell membrane NA PE1 3 +NX_Q9UIX4 513 57913 5.94 6 Cytoplasmic vesicle;Cell membrane NA PE1 20 +NX_Q9UIY3 292 33893 6.01 0 NA NA PE1 6 +NX_Q9UJ04 414 45126 8.8 0 NA NA PE1 6 +NX_Q9UJ14 662 70467 4.96 1 Cytoplasmic vesicle;Nucleus;Membrane NA PE1 20 +NX_Q9UJ37 374 41939 9.38 1 Golgi apparatus membrane NA PE1 17 +NX_Q9UJ41 708 79371 6.42 0 Cytosol;Cytoplasm;Recycling endosome;Nucleolus;Early endosome NA PE1 7 +NX_Q9UJ42 338 39787 8.84 7 Cell membrane NA PE2 3 +NX_Q9UJ55 1249 132822 9.55 0 Cytoplasm;Nucleus;Early endosome Schaaf-Yang syndrome PE1 15 +NX_Q9UJ68 235 26132 8.22 0 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Membrane;Mitochondrion NA PE1 8 +NX_Q9UJ70 344 37376 5.82 0 Cytosol;Nucleus NA PE1 2 +NX_Q9UJ71 328 36725 8.45 1 Cytosol;Membrane Birbeck granule deficiency PE1 2 +NX_Q9UJ72 324 37278 5.13 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA PE1 4 +NX_Q9UJ78 669 74817 8.5 0 Nucleus NA PE1 13 +NX_Q9UJ83 578 63729 7.08 0 Peroxisome NA PE1 3 +NX_Q9UJ90 142 14993 5.9 1 Cytosol;Membrane Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis PE1 X +NX_Q9UJ94 153 16537 6.04 0 NA NA PE5 21 +NX_Q9UJ96 466 51240 9.33 6 Membrane NA PE1 18 +NX_Q9UJ98 1225 139034 5.23 0 Centromere;Nucleus;Chromosome Premature ovarian failure 8 PE1 7 +NX_Q9UJ99 828 89091 4.62 1 Cell membrane NA PE1 20 +NX_Q9UJA2 301 32593 9.73 5 Mitochondrion inner membrane NA PE1 20 +NX_Q9UJA3 840 93697 7.82 0 Nucleoplasm;Nucleus;Chromosome Premature ovarian failure 10 PE1 20 +NX_Q9UJA5 497 55799 7.18 0 Nucleus NA PE1 20 +NX_Q9UJA9 477 54666 5.94 1 Secreted;Membrane NA PE1 6 +NX_Q9UJC3 728 84648 5.09 0 Cytoplasm;Cytoskeleton NA PE1 1 +NX_Q9UJC5 107 12326 6.3 0 Nucleoplasm;Nucleus NA PE1 6 +NX_Q9UJD0 308 32796 9.38 0 Mitochondrion;Synapse;Nucleolus NA PE1 1 +NX_Q9UJF2 1139 128558 8.52 0 Focal adhesion;Cell membrane NA PE1 1 +NX_Q9UJG1 213 24086 7.66 2 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus membrane;Nucleoplasm NA PE1 X +NX_Q9UJH8 293 31207 8.47 0 Cytosol;Nucleoplasm;Nucleus membrane;Secreted NA PE1 16 +NX_Q9UJJ7 312 34756 6.6 0 Cytosol;Nucleus;Cell junction;Golgi apparatus NA PE1 16 +NX_Q9UJJ9 305 33974 6.47 0 Cytosol;Endoplasmic reticulum;Golgi apparatus;Secreted Mucolipidosis type III complementation group C PE1 16 +NX_Q9UJK0 312 33596 6.48 0 Cytosol;Golgi apparatus NA PE1 16 +NX_Q9UJL9 534 61481 9.23 0 Cytosol;Nucleus NA PE1 1 +NX_Q9UJM3 462 50560 8.38 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 1 +NX_Q9UJM8 370 40924 8.2 0 Peroxisome NA PE1 20 +NX_Q9UJN7 358 40659 8.94 0 Nucleus NA PE1 6 +NX_Q9UJP4 597 66617 5.17 0 Spindle;Centrosome NA PE1 1 +NX_Q9UJQ1 280 31472 5.99 1 Synaptic vesicle membrane;Cytosol;Early endosome membrane;Cell membrane;Microtubule organizing center;Endosome membrane;Dendrite;Endoplasmic reticulum-Golgi intermediate compartment membrane;Growth cone membrane;Spindle;Cytoplasmic vesicle membrane;Recycling endosome NA PE1 20 +NX_Q9UJQ4 1053 112231 7.2 0 Nucleoplasm;Cytoplasm;Nucleus Duane-radial ray syndrome;Oculootoradial syndrome PE1 20 +NX_Q9UJQ7 156 17663 9.33 0 NA NA PE2 20 +NX_Q9UJS0 675 74176 8.79 6 Mitochondrion;Mitochondrion inner membrane Citrullinemia 2;Cholestasis, neonatal intrahepatic, caused by citrin deficiency PE1 7 +NX_Q9UJT0 475 52932 6.17 0 Centrosome NA PE1 6 +NX_Q9UJT1 453 51034 6.35 0 Cytosol;Cytoplasm;Centriole;Nucleoplasm;Nucleus;Cilium NA PE1 17 +NX_Q9UJT2 592 65050 5.7 0 Centriole NA PE1 19 +NX_Q9UJT9 491 54575 8.67 0 Centrosome NA PE1 5 +NX_Q9UJU2 399 44201 6.9 0 Nucleoplasm;Nucleus NA PE1 4 +NX_Q9UJU3 913 105842 8.6 0 Nucleus;Centrosome NA PE1 19 +NX_Q9UJU5 478 47630 6.01 0 Nucleus Autoimmune disease 1 PE1 1 +NX_Q9UJU6 430 48207 5.02 0 Synapse;Ruffle;Cytosol;Cell projection;Cell cortex;Cell membrane;Nucleoplasm;Golgi apparatus membrane;Clathrin-coated vesicle membrane;Early endosome;Lamellipodium;Cytoskeleton;Podosome NA PE1 7 +NX_Q9UJV3 735 83210 7.24 0 Cytoplasm;Cytoskeleton Mental retardation, X-linked 101 PE1 X +NX_Q9UJV8 347 39556 9.57 0 Nucleolus;Nucleus;Cell membrane NA PE1 8 +NX_Q9UJV9 622 69838 6.4 0 Nucleus Myeloproliferative/lymphoproliferative neoplasms, familial PE1 5 +NX_Q9UJW0 460 52337 7.1 0 Stress fiber;Cell cortex;Nucleus;Sarcomere;Cytoskeleton;Centrosome NA PE1 5 +NX_Q9UJW2 476 54605 8.31 0 Basement membrane NA PE1 6 +NX_Q9UJW3 386 43583 5.59 0 Nucleus speckle;Nucleus NA PE1 21 +NX_Q9UJW7 825 93707 8.88 0 Cytoplasmic vesicle;Nucleus;Cell membrane NA PE1 19 +NX_Q9UJW8 692 79111 8.04 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q9UJW9 196 21769 4.56 0 Nucleolus;Nucleus NA PE1 19 +NX_Q9UJX0 560 60849 7.01 0 Cytosol;Nucleoplasm NA PE1 16 +NX_Q9UJX2 597 68834 6.59 0 Cytoplasm;Nucleus NA PE1 5 +NX_Q9UJX3 599 66855 5.45 0 Nucleoplasm;Cytosol NA PE1 12 +NX_Q9UJX4 755 85077 6.4 0 Nucleoplasm NA PE1 12 +NX_Q9UJX5 808 92116 5.36 0 Cytoskeleton NA PE1 4 +NX_Q9UJX6 822 93828 5.12 0 Nucleoplasm NA PE1 9 +NX_Q9UJY1 196 21604 5 0 Cytosol;Cytoplasm;Nucleus Charcot-Marie-Tooth disease 2L;Neuronopathy, distal hereditary motor, 2A PE1 12 +NX_Q9UJY4 613 67150 6.13 0 Endosome membrane;Early endosome membrane;trans-Golgi network membrane;Golgi apparatus NA PE1 16 +NX_Q9UJY5 639 70384 5.18 0 Nucleoplasm;Cytoplasmic vesicle;Early endosome membrane;Endosome membrane;trans-Golgi network membrane NA PE1 22 +NX_Q9UJZ1 356 38534 6.87 0 Cytosol;Cell membrane;Mitochondrion inner membrane;Mitochondrion intermembrane space;Mitochondrion;Cytoskeleton;Membrane raft NA PE1 9 +NX_Q9UK00 162 17468 5.36 1 Cytosol;Membrane NA PE2 3 +NX_Q9UK05 429 47320 6.03 0 Secreted Telangiectasia, hereditary hemorrhagic, 5 PE1 10 +NX_Q9UK08 70 7841 6.55 0 Cell membrane NA PE1 19 +NX_Q9UK10 706 82471 9.18 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q9UK11 482 55763 9.04 0 Mitochondrion;Nucleus NA PE1 19 +NX_Q9UK12 451 52484 8.96 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q9UK13 617 71197 8.8 0 Nucleus NA PE1 19 +NX_Q9UK17 655 73451 8.56 6 Dendrite;Sarcolemma;Cell membrane Brugada syndrome 9;Spinocerebellar ataxia 19 PE1 1 +NX_Q9UK22 296 33328 4.29 0 Cytosol;Microsome membrane;Nucleoplasm;Cytoplasm NA PE1 1 +NX_Q9UK23 515 56073 6.15 1 Golgi stack membrane;trans-Golgi network NA PE1 16 +NX_Q9UK28 342 37619 6.11 1 Nucleoplasm;Cytoskeleton;Golgi apparatus membrane NA PE1 19 +NX_Q9UK32 745 83872 5.92 0 Cytosol;Mitochondrion;Nucleolus;Nucleus NA PE1 X +NX_Q9UK33 172 18756 10.13 0 Nucleus NA PE1 19 +NX_Q9UK39 431 48196 6.85 0 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus;Cytosol NA PE1 4 +NX_Q9UK41 221 25425 5.37 0 Late endosome membrane;Cell membrane NA PE1 8 +NX_Q9UK45 103 11602 5.1 0 Nucleolus;Nucleus NA PE1 19 +NX_Q9UK53 422 46738 9.28 0 Nucleoplasm;Cytosol;Nucleus Squamous cell carcinoma of the head and neck PE1 13 +NX_Q9UK55 444 50707 8.28 0 Cytosol;Nucleoplasm;Secreted NA PE1 14 +NX_Q9UK58 526 59634 10.71 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 3 +NX_Q9UK59 544 61555 5.25 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q9UK61 1670 189032 5.55 0 Nucleoplasm;Nucleus;Chromosome NA PE1 3 +NX_Q9UK73 627 70264 6.14 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 15 +NX_Q9UK76 154 16015 5.47 0 Cytoplasm;Nucleolus;Nucleus;Nucleus membrane NA PE1 17 +NX_Q9UK80 565 62656 9.91 0 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA PE1 1 +NX_Q9UK85 242 27007 8.1 0 Cytoplasmic vesicle;Secreted;Nucleus membrane;Endoplasmic reticulum;Acrosome NA PE1 19 +NX_Q9UK96 956 105195 8.47 0 Cytosol;Cytoplasm;Nucleus NA PE1 9 +NX_Q9UK97 447 52329 5.8 0 Cytoplasm;Centrosome;Cell membrane NA PE1 6 +NX_Q9UK99 471 54561 4.88 0 Nucleoplasm;Cytosol;Nucleus NA PE1 11 +NX_Q9UKA1 691 78555 5.32 0 Perinuclear region NA PE1 4 +NX_Q9UKA2 621 70097 6.1 0 Mitochondrion;Cytoplasm;Nucleus;Nucleus speckle Mitochondrial DNA depletion syndrome 13 PE1 6 +NX_Q9UKA4 1901 210512 5.23 0 Cytosol;Cytoplasm;Nucleolus;Centrosome;Cell membrane NA PE1 13 +NX_Q9UKA8 241 27492 4.54 0 Nucleus speckle;Nucleolus NA PE1 1 +NX_Q9UKA9 531 57491 8.72 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q9UKB1 542 62091 6.73 0 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus NA PE1 5 +NX_Q9UKB3 198 23415 5.51 0 Cytoplasm Hyperphenylalaninemia, mild, non-BH4-deficient PE1 10 +NX_Q9UKB5 411 44536 9.63 1 Adherens junction;Apical cell membrane;Basolateral cell membrane NA PE1 1 +NX_Q9UKC9 423 47062 7.4 0 Nucleolus;Nucleus;Cell membrane;Membrane NA PE1 3 +NX_Q9UKD1 530 56421 5.38 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 20 +NX_Q9UKD2 239 27560 8.34 0 Cytoplasm;Nucleolus;Nucleus;Nucleus membrane NA PE1 1 +NX_Q9UKE5 1360 154943 6.7 0 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Recycling endosome;Cytoskeleton Mental retardation, autosomal recessive 54 PE1 3 +NX_Q9UKF2 790 88940 7.84 1 Late endosome membrane NA PE1 1 +NX_Q9UKF5 820 92759 7.29 1 Membrane NA PE1 4 +NX_Q9UKF6 684 77486 5.37 0 Nucleus NA PE1 2 +NX_Q9UKF7 332 38388 5.99 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 17 +NX_Q9UKG1 709 79663 5.28 0 Spindle;Early endosome membrane;Nucleus;Centrosome Maturity-onset diabetes of the young 14 PE1 3 +NX_Q9UKG4 626 69358 7.16 12 Membrane NA PE1 7 +NX_Q9UKG9 612 70178 6.63 0 Cytoplasmic vesicle;Peroxisome NA PE1 7 +NX_Q9UKH3 698 79016 9.15 1 Virion;Cell membrane NA PE1 6 +NX_Q9UKI2 254 27678 5.49 0 Cytoskeleton;Cell membrane;Endomembrane system NA PE1 2 +NX_Q9UKI3 123 13710 5.1 0 NA NA PE1 22 +NX_Q9UKI8 766 86700 8.88 0 Nucleus NA PE1 2 +NX_Q9UKI9 436 47432 8.66 0 Nucleus NA PE2 11 +NX_Q9UKJ0 227 25542 10.39 1 Mitochondrion;Membrane NA PE1 7 +NX_Q9UKJ1 303 34005 10.22 1 Cell membrane;Secreted NA PE1 7 +NX_Q9UKJ3 1502 164197 8.81 0 Mitochondrion;Nucleus speckle NA PE1 17 +NX_Q9UKJ5 165 19254 6.34 0 Cytoplasmic vesicle;Cell membrane NA PE1 4 +NX_Q9UKJ8 722 80834 6.22 1 Membrane NA PE1 14 +NX_Q9UKK3 1724 192595 5.43 0 Cytosol;Cytoplasm;Spindle;Nucleus NA PE1 13 +NX_Q9UKK6 140 15847 4.91 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA PE1 20 +NX_Q9UKK9 219 24328 4.87 0 Cytoplasmic vesicle;Nucleus;Centrosome NA PE1 10 +NX_Q9UKL0 485 53327 6.56 0 Nucleoplasm;Nucleus NA PE1 14 +NX_Q9UKL2 312 35322 8.89 7 Cell membrane NA PE2 11 +NX_Q9UKL3 1982 222658 6.14 0 Mitochondrion;Cytoplasm;Nucleolus;Nucleus;PML body NA PE1 6 +NX_Q9UKL4 321 36093 8.95 4 Gap junction;Cell membrane NA PE1 15 +NX_Q9UKL6 214 24843 5.62 0 Cytoplasm;Nucleolus;Nucleus NA PE1 17 +NX_Q9UKM7 699 79580 7.38 1 Endoplasmic reticulum membrane;Cytoplasmic vesicle Mental retardation, autosomal recessive 15 PE1 9 +NX_Q9UKM9 306 32463 9.2 0 Nucleoplasm;Nucleus NA PE1 20 +NX_Q9UKN1 5478 558164 5.31 1 Membrane NA PE1 7 +NX_Q9UKN5 801 87920 5.93 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q9UKN7 3530 395293 9.26 0 Cytoskeleton;Stereocilium Deafness, autosomal recessive, 3 PE1 17 +NX_Q9UKN8 822 91982 6.21 0 Nucleus NA PE1 9 +NX_Q9UKP3 347 38382 5.04 0 Cytosol NA PE1 X +NX_Q9UKP4 1686 184095 5.81 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 15 +NX_Q9UKP5 1117 125273 6.24 0 Extracellular matrix NA PE1 5 +NX_Q9UKP6 389 42130 10.68 7 Cell membrane NA PE1 17 +NX_Q9UKQ2 775 87148 6.55 1 Mitochondrion;Cell membrane;Secreted NA PE1 8 +NX_Q9UKQ9 250 27513 7.1 0 Secreted NA PE1 19 +NX_Q9UKR0 248 26734 7.57 0 Secreted NA PE1 19 +NX_Q9UKR3 277 30570 8.78 0 Secreted NA PE1 19 +NX_Q9UKR5 140 15864 9.86 4 Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleoplasm NA PE1 14 +NX_Q9UKR8 245 26266 8.61 4 Membrane NA PE1 19 +NX_Q9UKS6 424 48487 5.83 0 Cytosol;Cytoplasm;Cell membrane NA PE1 11 +NX_Q9UKS7 526 59574 6.3 0 Nucleoplasm;Cytosol;Nucleus NA PE1 2 +NX_Q9UKT4 447 50146 9.17 0 Nucleoplasm;Cytoplasm;Spindle;Nucleus NA PE1 6 +NX_Q9UKT5 387 44136 5.77 0 Cytoplasm;Nucleus NA PE1 5 +NX_Q9UKT6 434 49152 6.02 0 Cytosol;Nucleus NA PE1 5 +NX_Q9UKT7 428 48707 6.41 0 Cytoplasm;Nucleus NA PE1 13 +NX_Q9UKT8 454 51512 6.11 0 Nucleoplasm NA PE1 9 +NX_Q9UKT9 509 58023 6.11 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 17 +NX_Q9UKU0 697 77752 7.2 1 Endoplasmic reticulum membrane;Microsome membrane;Peroxisome membrane;Mitochondrion outer membrane NA PE1 5 +NX_Q9UKU6 1024 117000 6.51 1 Membrane NA PE1 12 +NX_Q9UKU7 415 45070 8.12 0 Mitochondrion Isobutyryl-CoA dehydrogenase deficiency PE1 11 +NX_Q9UKU9 493 57104 7.23 0 Golgi apparatus;Secreted NA PE1 9 +NX_Q9UKV0 1011 111297 6.4 0 Nucleoplasm;Nucleus NA PE1 7 +NX_Q9UKV3 1341 151862 6.08 0 Nucleoplasm;Nucleus speckle;Nucleus;Cytosol;Cell membrane NA PE1 14 +NX_Q9UKV5 643 72996 5.95 7 Endoplasmic reticulum membrane;Endoplasmic reticulum;Golgi apparatus NA PE1 16 +NX_Q9UKV8 859 97208 9.32 0 Nucleoplasm;P-body;Nucleus;Cell junction NA PE1 8 +NX_Q9UKW4 847 97776 6.65 0 NA NA PE1 1 +NX_Q9UKW6 265 31263 5.81 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q9UKX2 1941 223044 5.64 0 Cytoplasm;Myofibril Myopathy, proximal, and ophthalmoplegia PE1 17 +NX_Q9UKX3 1938 223605 5.54 0 Myofibril NA PE1 17 +NX_Q9UKX5 1188 133470 6.24 1 Membrane NA PE1 15 +NX_Q9UKX7 468 50144 6.64 0 Nucleoplasm;Nuclear pore complex;Nucleus membrane NA PE1 22 +NX_Q9UKY0 176 20293 9.24 0 Cell membrane NA PE1 20 +NX_Q9UKY1 873 98098 5.76 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q9UKY3 287 30679 7.83 0 Secreted NA PE5 16 +NX_Q9UKY4 750 84214 9.25 10 Endoplasmic reticulum membrane Muscular dystrophy-dystroglycanopathy limb-girdle C2;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 PE1 14 +NX_Q9UKY7 258 27335 6.06 0 Cytosol;Cytoplasm;Nucleolus;Cell membrane NA PE1 3 +NX_Q9UKZ1 510 55215 5.99 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 2 +NX_Q9UKZ4 2725 305011 5.98 1 Nucleus speckle;Cytoplasm;Cell membrane;Nucleus;Nucleus matrix;Cytoskeleton NA PE1 X +NX_Q9UKZ9 415 45717 8.81 0 Cytosol;Nucleoplasm;Secreted NA PE1 3 +NX_Q9UL01 958 109773 8.23 2 Cytosol;Nucleoplasm;Membrane Ehlers-Danlos syndrome, musculocontractural type 2 PE1 6 +NX_Q9UL03 887 100390 8.79 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 13 +NX_Q9UL12 918 101037 6.8 0 Mitochondrion matrix;Mitochondrion Sarcosinemia PE1 9 +NX_Q9UL15 447 51200 5.76 0 Cytoplasmic vesicle NA PE1 14 +NX_Q9UL16 551 65730 8.94 0 Nucleoplasm;Cilium NA PE1 1 +NX_Q9UL17 535 58328 5.67 0 Nucleus Asthma, with nasal polyps and aspirin intolerance PE1 17 +NX_Q9UL18 857 97214 9.27 0 P-body NA PE1 1 +NX_Q9UL19 164 18179 8.78 1 Membrane NA PE1 11 +NX_Q9UL25 225 24348 8.11 0 Endoplasmic reticulum membrane;Endosome;Cleavage furrow;Early endosome membrane;Golgi apparatus membrane;trans-Golgi network;Cytoplasmic vesicle membrane NA PE1 12 +NX_Q9UL26 194 21855 8.32 0 Cytoplasmic vesicle;Late endosome;Ruffle;Phagosome;Endosome membrane;Cell membrane;Early endosome;Phagosome membrane;Centrosome NA PE1 20 +NX_Q9UL33 140 16146 6.28 0 Cytoplasmic vesicle;Cytosol;Perinuclear region;Golgi apparatus;Endoplasmic reticulum NA PE1 16 +NX_Q9UL36 1845 203704 8.46 0 Nucleus NA PE1 18 +NX_Q9UL40 294 32933 9.24 0 Cytoplasm;Nucleolus;Nucleus NA PE1 5 +NX_Q9UL41 463 52376 9.59 0 Nucleolus;Nucleus NA PE1 X +NX_Q9UL42 364 41509 4.84 0 Nucleolus NA PE1 8 +NX_Q9UL45 172 19744 6.01 0 Cytoplasm;Membrane Hermansky-Pudlak syndrome 9 PE1 15 +NX_Q9UL46 239 27402 5.54 0 Nucleus NA PE1 14 +NX_Q9UL49 500 52697 6.44 0 Nucleoplasm;Nucleus NA PE1 20 +NX_Q9UL51 889 96950 9.15 6 Cell membrane NA PE1 19 +NX_Q9UL52 423 47696 8.85 1 Cell membrane;Secreted NA PE1 4 +NX_Q9UL54 1235 138251 6.84 5 Nucleolus;Cytosol;Dendrite;Nucleus;Cytoskeleton;Cytoplasmic vesicle membrane NA PE1 16 +NX_Q9UL58 517 60034 8.96 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 11 +NX_Q9UL59 606 70992 8.84 0 Nucleus NA PE1 11 +NX_Q9UL62 973 111412 6.94 6 Cell membrane NA PE1 X +NX_Q9UL63 735 84768 5.91 0 Synapse;Ruffle;Cytosol;Cytoplasm;Cell cortex;Cell membrane;Cytoplasmic vesicle;Nucleoplasm NA PE1 7 +NX_Q9UL68 1186 133043 4.86 0 Cytoplasmic vesicle;Nucleus;Chromosome Mental retardation, autosomal dominant 39 PE1 2 +NX_Q9ULA0 475 52428 7.03 0 Cytosol;Cytoplasm NA PE1 2 +NX_Q9ULB1 1477 161883 5.61 1 Synapse;Nucleolus;Cell membrane Pitt-Hopkins-like syndrome 2;Schizophrenia 17 PE1 2 +NX_Q9ULB4 789 88689 4.73 1 Cell membrane NA PE1 5 +NX_Q9ULB5 785 87086 4.64 1 Cell membrane NA PE1 18 +NX_Q9ULC0 261 27452 7.72 1 Secreted;Cell membrane;Membrane NA PE1 4 +NX_Q9ULC3 237 26659 6.22 0 Cytosol;Cytoplasm;Phagosome;Endosome membrane;Cell membrane;Phagosome membrane;Autophagosome Carpenter syndrome 1 PE1 6 +NX_Q9ULC4 181 20555 8.98 0 Cytosol;Cytoplasm;Cell membrane NA PE1 X +NX_Q9ULC5 683 75991 6.49 1 Mitochondrion;Endoplasmic reticulum membrane;Nucleus;Endoplasmic reticulum;Mitochondrion outer membrane NA PE1 10 +NX_Q9ULC6 663 74666 6.07 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 1 +NX_Q9ULC8 765 81443 9.33 4 Nucleoplasm;Cytosol;Cytoplasmic vesicle membrane NA PE1 22 +NX_Q9ULD0 1010 114481 6.18 0 Mitochondrion matrix;Cytosol;Nucleolus;Nucleus NA PE1 10 +NX_Q9ULD2 1270 141397 7.33 0 Nucleolus;Golgi apparatus;Cell membrane;Centrosome;Nucleus;Mitochondrion;Cytoskeleton;Spindle Hepatocellular carcinoma PE1 8 +NX_Q9ULD4 1205 135745 6.17 0 Nucleoplasm;Mitochondrion NA PE1 6 +NX_Q9ULD5 760 85176 5.62 0 Nucleus NA PE1 7 +NX_Q9ULD6 942 105648 5.59 0 Cytoplasm;Cell surface;Cytoplasmic vesicle;Cilium basal body Orofaciodigital syndrome 17;Short-rib thoracic dysplasia 7/20 with polydactyly, digenic;Short-rib thoracic dysplasia 20 with polydactyly PE1 4 +NX_Q9ULD8 1083 117129 8.25 6 Mitochondrion;Nucleus;Membrane NA PE1 12 +NX_Q9ULD9 1512 162208 8.92 0 Cytosol;Nucleoplasm NA PE1 5 +NX_Q9ULE0 1092 122676 6 0 Cytosol;Cytoskeleton NA PE1 X +NX_Q9ULE3 1009 113853 9.11 0 Cytoskeleton NA PE1 7 +NX_Q9ULE4 1060 121044 5.87 0 NA NA PE1 4 +NX_Q9ULE6 856 96754 6.08 0 Cytosol NA PE1 10 +NX_Q9ULF5 831 94132 6.25 7 Nucleoplasm;Cytosol;Cell membrane;Membrane NA PE1 2 +NX_Q9ULG1 1556 176753 9.53 0 Nucleoplasm;Cytoplasm;Spindle;Nucleus;Chromosome NA PE1 15 +NX_Q9ULG3 409 46740 8.11 0 Cytosol;Cell junction NA PE1 3 +NX_Q9ULG6 757 87340 5.67 1 Golgi apparatus;Cytoplasmic granule membrane;Endoplasmic reticulum NA PE1 15 +NX_Q9ULH0 1771 196542 6.19 4 Nucleoplasm;Late endosome;Membrane Spastic paraplegia, intellectual disability, nystagmus, and obesity PE1 2 +NX_Q9ULH1 1129 125498 6.95 0 Cytosol;Cytoplasm;Centrosome;Cell membrane;Membrane NA PE1 8 +NX_Q9ULH4 789 84731 6.27 1 Cytoplasmic vesicle;Synapse;Postsynaptic cell membrane;Membrane NA PE1 6 +NX_Q9ULH7 1088 118127 5.89 0 Nucleus speckle;Nucleus NA PE1 16 +NX_Q9ULI0 1458 164914 6.36 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q9ULI1 1742 197466 5.85 0 NA NA PE1 4 +NX_Q9ULI2 386 42464 5.67 0 Nucleoplasm;Cytoplasm;Microtubule organizing center NA PE1 12 +NX_Q9ULI3 1381 147461 5.8 1 Cytoplasmic vesicle;Cell junction;Cell membrane;Secreted NA PE1 3 +NX_Q9ULI4 1882 194590 9.12 0 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA PE1 14 +NX_Q9ULJ1 636 73728 6.09 0 Mitochondrion;Centriole;Centriolar satellite;Centrosome;Cilium basal body NA PE1 1 +NX_Q9ULJ3 1066 118870 8.61 0 Nucleus NA PE1 21 +NX_Q9ULJ6 1067 115483 7.09 0 Cytoplasmic vesicle;Nucleus speckle;Cytoplasm;Nucleoplasm NA PE1 10 +NX_Q9ULJ7 1429 155859 6.13 0 Cytosol;Nucleoplasm;Endosome NA PE1 4 +NX_Q9ULJ8 1098 123342 5.01 0 Synaptosome;Cytoskeleton;Cell membrane NA PE1 7 +NX_Q9ULK0 1009 112131 6.23 3 Postsynaptic cell membrane;Cell membrane NA PE1 10 +NX_Q9ULK2 861 91514 9.82 0 Cytosol;Cytoplasm;Nucleus NA PE1 7 +NX_Q9ULK4 1368 156474 7.09 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus Mental retardation, autosomal recessive 18 PE1 6 +NX_Q9ULK5 521 59714 9.27 4 Cell membrane Neural tube defects PE1 1 +NX_Q9ULK6 438 48072 5.11 1 Membrane NA PE1 4 +NX_Q9ULL0 1709 187021 8.72 0 Acrosome NA PE1 X +NX_Q9ULL1 1385 155439 5.84 0 Nucleoplasm NA PE1 6 +NX_Q9ULL4 1909 206847 5.96 1 Cell membrane NA PE1 X +NX_Q9ULL5 1215 129991 8.18 0 Cytosol;Synaptosome;Nucleus;Postsynaptic density NA PE1 19 +NX_Q9ULL8 1493 164857 6.2 0 Cytoskeleton Mental retardation, X-linked, syndromic, Stocco dos Santos type PE1 X +NX_Q9ULM0 1364 151232 8.17 0 Centrosome NA PE1 14 +NX_Q9ULM2 529 61340 9.02 0 Nucleus NA PE1 19 +NX_Q9ULM3 1422 150782 9.1 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q9ULM6 557 63307 6.82 0 Cytosol;Cytoplasm;Nucleus NA PE1 5 +NX_Q9ULN7 635 68615 5.35 0 NA NA PE1 19 +NX_Q9ULP0 352 38459 5.79 0 Cytosol;Nucleus;Golgi apparatus NA PE1 16 +NX_Q9ULP9 559 62919 7.14 0 Cytoplasm;Cytoplasmic vesicle membrane;Cell junction;Cell membrane Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome;Familial infantile myoclonic epilepsy;Deafness, autosomal dominant, 65;Epileptic encephalopathy, early infantile, 16;Deafness, autosomal recessive, 86 PE1 16 +NX_Q9ULQ0 834 95360 5.65 0 Cytosol;Cytoplasm NA PE1 7 +NX_Q9ULQ1 816 94147 8.47 12 Endosome membrane;Lysosome membrane NA PE1 12 +NX_Q9ULR0 285 32992 5.15 0 Nucleus speckle;Nucleus NA PE1 3 +NX_Q9ULR3 514 56448 6.14 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 12 +NX_Q9ULR5 123 14237 4.06 0 Cytosol NA PE1 2 +NX_Q9ULS5 477 53785 8.77 2 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 12 +NX_Q9ULS6 477 54237 5.58 6 Cell membrane NA PE1 8 +NX_Q9ULT0 858 96185 6.03 0 Cytoplasm;Cell membrane Gastrointestinal defects and immunodeficiency syndrome PE1 2 +NX_Q9ULT6 936 100574 8.14 1 Golgi apparatus;Cell membrane NA PE1 22 +NX_Q9ULT8 2610 289384 5.21 0 Nucleolus;Nucleus NA PE1 14 +NX_Q9ULU4 1186 131692 6.83 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 20 +NX_Q9ULU8 1353 152786 5.5 0 Cytoplasmic vesicle;Synapse;Cytoplasmic vesicle membrane NA PE1 3 +NX_Q9ULV0 1848 213672 6.77 0 Cytoplasm;Cell membrane Diarrhea 2, with microvillus atrophy PE1 18 +NX_Q9ULV1 537 59881 7.05 7 Cytosol;Nucleoplasm;Cell membrane;Membrane Vitreoretinopathy, exudative 1 PE1 11 +NX_Q9ULV3 898 100045 5.77 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q9ULV4 474 53249 6.65 0 Synapse;Sarcolemma;Cytoplasm;Cell cortex;Cell membrane;Endosome membrane;Ruffle membrane;Sarcomere;Lamellipodium;Cytoskeleton NA PE1 12 +NX_Q9ULV5 492 53011 5.29 0 Nucleus speckle;Nucleus Cataract 5, multiple types PE1 16 +NX_Q9ULV8 474 52456 7.83 0 Nucleoplasm NA PE1 19 +NX_Q9ULW0 747 85653 9.29 0 Nucleoplasm;Spindle pole;Nucleus;Spindle;Microtubule organizing center;Cytoskeleton NA PE1 20 +NX_Q9ULW2 581 65336 8.83 7 Nucleoplasm;Cell membrane NA PE1 12 +NX_Q9ULW3 272 31079 9.87 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA PE1 6 +NX_Q9ULW5 256 27900 9.43 0 Cytoplasmic vesicle;Golgi apparatus membrane;Secretory vesicle membrane;Centrosome;Cell membrane NA PE1 16 +NX_Q9ULW6 460 52542 4.39 0 Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane NA PE1 X +NX_Q9ULW8 664 74743 5.3 0 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm Uncombable hair syndrome 1 PE1 1 +NX_Q9ULX3 412 46675 6.72 0 Cytosol;Focal adhesion;Nucleus NA PE1 16 +NX_Q9ULX5 631 68298 8.88 2 Nucleus speckle;Endosome;Nucleoplasm;Cytoplasm;Nuclear body;Nucleus;Membrane;Postsynaptic density;Synaptic vesicle NA PE1 17 +NX_Q9ULX6 646 71640 4.94 0 Nucleus matrix;Cytoplasm;Nucleus;Nucleus speckle;PML body NA PE1 19 +NX_Q9ULX7 337 37668 5.9 1 Cell membrane;Membrane NA PE1 1 +NX_Q9ULX9 164 17760 9.85 0 Mitochondrion;Nucleus NA PE1 22 +NX_Q9ULY5 219 25073 5.12 1 Cytosol;Membrane NA PE1 12 +NX_Q9ULZ0 132 13627 8.45 0 Cytoplasm;Nucleus NA PE2 16 +NX_Q9ULZ1 77 8569 11.83 0 Extracellular space;Secreted NA PE1 X +NX_Q9ULZ2 295 34291 7.61 0 Mitochondrion;Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA PE1 4 +NX_Q9ULZ3 195 21627 5.95 0 Nucleolus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleus;Mitochondrion NA PE1 16 +NX_Q9ULZ9 603 66653 6.08 0 Cell membrane;Extracellular matrix NA PE1 12 +NX_Q9UM00 188 21175 9.77 2 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum Glaucoma, primary open angle;Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome PE1 1 +NX_Q9UM01 511 55991 5.29 12 Basolateral cell membrane Lysinuric protein intolerance PE1 14 +NX_Q9UM07 663 74079 6.15 0 Cytoplasm;Nucleus;Cytoplasmic granule Rheumatoid arthritis PE1 1 +NX_Q9UM11 496 55179 9.41 0 Nucleoplasm;Cytoplasm;Nucleus;Nucleus membrane NA PE1 19 +NX_Q9UM13 185 21252 9.17 0 Nucleoplasm;Golgi apparatus NA PE1 4 +NX_Q9UM19 191 22202 4.76 0 Cytoplasm;Nucleus NA PE1 1 +NX_Q9UM21 535 61544 6.94 1 Golgi apparatus membrane;Golgi apparatus;Secreted NA PE1 2 +NX_Q9UM22 224 25437 6.33 0 Secreted NA PE1 7 +NX_Q9UM44 414 46850 5.77 1 Membrane NA PE1 3 +NX_Q9UM47 2321 243631 5.18 1 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus;Cell membrane Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1;Myofibromatosis, infantile 2;Lateral meningocele syndrome PE1 19 +NX_Q9UM54 1294 149691 8.74 0 trans-Golgi network membrane;Golgi apparatus;Clathrin-coated pit;Clathrin-coated vesicle membrane;Perinuclear region;Nucleus;Ruffle membrane Deafness, autosomal dominant, 22;Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy;Deafness, autosomal recessive, 37 PE1 6 +NX_Q9UM63 463 50819 8.85 0 Cytoplasmic vesicle;Nucleus;Golgi apparatus Transient neonatal diabetes mellitus 1 PE1 6 +NX_Q9UM73 1620 176442 6.67 1 Cell membrane Neuroblastoma 3 PE1 2 +NX_Q9UM82 520 58427 9 0 Cytoplasm;Nucleolus;Nucleus NA PE1 20 +NX_Q9UMD9 1497 150419 8.89 1 Basement membrane;Hemidesmosome;Cell membrane;Golgi apparatus;Membrane Epithelial recurrent erosion dystrophy;Generalized atrophic benign epidermolysis bullosa PE1 10 +NX_Q9UMF0 924 97116 5.71 1 Membrane NA PE1 19 +NX_Q9UMN6 2715 293515 8.59 0 Cytosol;Nucleoplasm;Nucleus Dystonia 28, childhood-onset PE1 19 +NX_Q9UMQ3 279 31188 8.65 0 Cytosol;Nucleoplasm;Nucleus NA PE1 11 +NX_Q9UMQ6 739 84423 5.39 0 Acrosome NA PE1 6 +NX_Q9UMR2 479 53927 5.96 0 Cytoplasm;Nuclear pore complex;Nucleus envelope;Nucleus membrane NA PE1 16 +NX_Q9UMR3 447 49232 7.29 0 Nucleus Atrial septal defect 4 PE1 7 +NX_Q9UMR5 302 34225 5.87 0 Endoplasmic reticulum;Lysosome NA PE1 6 +NX_Q9UMR7 237 27512 6.32 1 Cell membrane NA PE1 12 +NX_Q9UMS0 254 28463 4.97 0 Nucleoplasm;Cytosol;Mitochondrion Multiple mitochondrial dysfunctions syndrome 1 PE1 2 +NX_Q9UMS4 504 55181 6.14 0 Nucleus speckle;Nucleoplasm;Cytoplasm;Lipid droplet;Nucleus;Spindle NA PE1 11 +NX_Q9UMS5 762 87252 9.64 0 Nucleolus;Nucleus NA PE1 1 +NX_Q9UMS6 1093 117514 8.75 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Focal adhesion;Nucleus;Cytoskeleton;Z line NA PE1 4 +NX_Q9UMW8 372 43011 8.05 0 Cytosol;Cytoplasm;Nucleus Pseudo-TORCH syndrome 2 PE1 22 +NX_Q9UMX0 589 62519 5.02 0 Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleoplasm;Nucleus;Autophagosome;Cell membrane NA PE1 9 +NX_Q9UMX1 484 53947 5.16 0 Cytoplasm;Nucleus Joubert syndrome 32;Medulloblastoma PE1 10 +NX_Q9UMX2 235 27413 6.38 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q9UMX3 212 23280 9.33 1 Endoplasmic reticulum membrane;trans-Golgi network membrane;Nucleus outer membrane;Cytoplasm;Early endosome membrane;Endoplasmic reticulum;Mitochondrion outer membrane;cis-Golgi network membrane;Mitochondrion inner membrane;Membrane;Mitochondrion;Nucleus;Recycling endosome membrane;Mitochondrion membrane NA PE1 2 +NX_Q9UMX5 172 18856 5.51 0 Extracellular space;Nucleus NA PE1 1 +NX_Q9UMX6 200 23420 4.75 0 Cell membrane Retinitis pigmentosa 48 PE1 6 +NX_Q9UMX9 530 58268 7.17 12 Melanosome membrane Albinism, oculocutaneous, 4 PE1 5 +NX_Q9UMY1 257 29426 9.68 0 Mitochondrion;Nucleolus;Nucleus NA PE1 6 +NX_Q9UMY4 172 19730 7.71 0 Membrane NA PE1 X +NX_Q9UMZ2 1314 140654 4.9 0 Cytosol;Cytoplasm;trans-Golgi network membrane NA PE1 17 +NX_Q9UMZ3 2332 260924 5.57 1 Cytosol;Membrane Deafness, autosomal dominant, 73;Deafness, autosomal recessive, 84A PE1 12 +NX_Q9UN19 280 32194 7.66 0 Cytoplasm;Membrane NA PE1 4 +NX_Q9UN30 329 37447 6.42 0 Nucleus NA PE1 X +NX_Q9UN36 371 40798 5.08 0 Golgi apparatus;Cytosol;Cytoplasm;Microtubule organizing center;Nucleoplasm;Perinuclear region;Growth cone NA PE1 14 +NX_Q9UN37 437 48898 7.64 0 Late endosome membrane;Prevacuolar compartment membrane;Midbody NA PE1 16 +NX_Q9UN42 357 41598 4.69 1 Nucleus inner membrane NA PE1 X +NX_Q9UN66 801 87639 4.77 1 Cell membrane NA PE1 5 +NX_Q9UN67 800 87621 4.75 1 Cell membrane NA PE1 5 +NX_Q9UN70 934 101077 5.07 1 Cell membrane NA PE1 5 +NX_Q9UN71 923 99927 4.8 1 Cell membrane NA PE1 5 +NX_Q9UN72 937 100865 5.08 1 Cell membrane NA PE2 5 +NX_Q9UN73 950 102716 4.93 1 Cytoplasmic vesicle;Cell membrane;Secreted NA PE1 5 +NX_Q9UN74 947 102293 4.96 1 Cytosol;Nucleoplasm;Cell membrane NA PE1 5 +NX_Q9UN75 941 101652 5.13 1 Cytosol;Cell membrane NA PE1 5 +NX_Q9UN76 642 72153 8.53 12 Cytoplasmic vesicle;Membrane NA PE1 X +NX_Q9UN79 622 69228 6.26 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q9UN81 338 40056 9.54 0 Stress granule;Cytoplasmic ribonucleoprotein granule;Nucleolus NA PE1 unknown +NX_Q9UN86 482 54121 5.41 0 Cytosol;Cytoplasm NA PE1 4 +NX_Q9UN88 632 72022 5.55 3 Postsynaptic cell membrane;Cell membrane NA PE1 X +NX_Q9UNA0 930 101718 9.13 0 Nucleoplasm;Extracellular matrix NA PE1 21 +NX_Q9UNA1 814 92235 6.2 0 Cytosol;Cytoskeleton;Focal adhesion Leukemia, juvenile myelomonocytic PE1 5 +NX_Q9UNA3 340 39497 6.42 1 Golgi apparatus membrane NA PE1 3 +NX_Q9UNA4 740 83006 5.73 0 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA PE1 18 +NX_Q9UND3 350 40133 9.48 0 Nuclear pore complex;Nucleus membrane NA PE2 16 +NX_Q9UNE0 448 48582 5.08 1 Membrane Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PE1 2 +NX_Q9UNE2 315 34464 9.23 0 Cytoplasm;Secretory vesicle membrane NA PE1 17 +NX_Q9UNE7 303 34856 5.61 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Spinocerebellar ataxia, autosomal recessive, 16 PE1 16 +NX_Q9UNF0 486 55739 5.08 0 Nucleus speckle;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Cell projection;Ruffle membrane;Early endosome;Caveola;Cytoskeleton;Recycling endosome membrane;Cytoplasmic vesicle membrane NA PE1 22 +NX_Q9UNF1 606 64954 9.35 0 Cytosol;Nucleolus;Nucleus Bartter syndrome 5, antenatal, transient PE1 X +NX_Q9UNG2 199 22724 7.62 1 Cell membrane NA PE1 1 +NX_Q9UNH5 594 66574 9.21 0 Nucleoplasm;Stereocilium;Centrosome;Cytosol;Nucleus;Kinocilium;Spindle;Spindle pole Deafness, autosomal recessive 32, with or without immotile sperm PE1 1 +NX_Q9UNH6 387 45303 5.02 0 Cytosol;Cytoplasmic vesicle membrane;Nucleolus NA PE1 1 +NX_Q9UNH7 406 46649 5.81 0 Endosome;Golgi apparatus;Lysosome;Cytoplasm;Early endosome membrane;Cytoplasmic vesicle;Nucleus;Early endosome NA PE1 14 +NX_Q9UNI1 258 27798 8.59 0 Secreted NA PE1 12 +NX_Q9UNI6 340 37687 6.41 0 Cytosol;Nucleus NA PE1 1 +NX_Q9UNK0 236 26907 4.91 1 Cytosol;Cytoskeleton;Nucleus;Golgi apparatus;Membrane NA PE1 17 +NX_Q9UNK4 145 16546 8.6 0 Secreted NA PE1 1 +NX_Q9UNK9 670 75276 4.72 0 Nucleoplasm NA PE1 14 +NX_Q9UNL2 185 21080 9.61 4 Endoplasmic reticulum membrane;Cytosol NA PE1 3 +NX_Q9UNL4 249 28530 7.53 0 Nucleus NA PE1 12 +NX_Q9UNM6 376 42945 5.53 0 Cytosol;Nucleus speckle NA PE1 11 +NX_Q9UNN4 478 52444 4.58 0 Nucleus NA PE1 2 +NX_Q9UNN5 650 73954 4.81 0 Nucleus NA PE1 1 +NX_Q9UNN8 238 26671 6.7 1 Cytoplasm;Cell membrane;Membrane NA PE1 20 +NX_Q9UNP4 418 47990 9.13 1 Cytoplasmic vesicle;Golgi apparatus membrane Salt and pepper developmental regression syndrome PE1 2 +NX_Q9UNP9 301 33431 5.41 0 Nucleus speckle;Nucleus NA PE1 1 +NX_Q9UNQ0 655 72314 8.91 6 Nucleus;Mitochondrion membrane;Cell membrane NA PE1 4 +NX_Q9UNQ2 313 35236 10.01 0 Nucleoplasm;Cytosol;Nucleolus;Nucleus NA PE1 5 +NX_Q9UNS1 1208 138658 5.28 0 Nucleus NA PE1 12 +NX_Q9UNS2 423 47873 6.19 0 Cytosol;Cytoplasm;Nucleus NA PE1 17 +NX_Q9UNT1 228 26101 4.75 0 Centriole;Cytoplasm;Cilium basal body NA PE1 22 +NX_Q9UNU6 501 58068 8.78 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 3 +NX_Q9UNW1 487 55051 7.93 0 Endoplasmic reticulum lumen Thyroid cancer, non-medullary, 2 PE1 10 +NX_Q9UNW8 380 42499 8.95 7 Cell membrane NA PE1 14 +NX_Q9UNW9 492 49009 8.24 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 19 +NX_Q9UNX3 145 17256 10.55 0 NA NA PE1 5 +NX_Q9UNX4 943 106099 6.2 0 Nucleolus;Nucleus;Nucleus membrane NA PE1 1 +NX_Q9UNX9 436 47846 5.25 2 Nucleolus;Membrane NA PE1 19 +NX_Q9UNY4 1162 129588 8.63 0 Cytosol;Cytoplasm;Nucleus NA PE1 1 +NX_Q9UNY5 417 47688 6.28 0 Cytosol;Cytoplasmic vesicle;Nucleus NA PE1 17 +NX_Q9UNZ2 370 40573 4.99 0 Cytosol;Cell membrane;Nucleoplasm;Nucleus;Golgi stack;Centrosome;Chromosome NA PE1 20 +NX_Q9UNZ5 99 10577 11.55 0 Nucleolus;Nucleus NA PE1 19 +NX_Q9UP38 647 71158 8.33 7 Cell membrane NA PE1 7 +NX_Q9UP52 801 88755 5.72 1 Cytoplasm;Cell membrane Hemochromatosis 3 PE1 7 +NX_Q9UP65 541 60939 6.46 0 Cytosol;Membrane NA PE1 19 +NX_Q9UP79 889 96460 5.78 0 Extracellular matrix NA PE1 11 +NX_Q9UP83 839 92743 6.15 0 Cytosol;Nucleoplasm;Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2I PE1 7 +NX_Q9UP95 1085 120650 6.02 12 Endosome;Membrane NA PE1 16 +NX_Q9UPA5 3926 416469 7.28 0 Cytoplasm;Cytoskeleton;Synaptic vesicle membrane;Synaptosome NA PE1 3 +NX_Q9UPC5 381 43860 9.89 7 Cytosol;Nucleus;Cell membrane NA PE2 X +NX_Q9UPE1 567 62014 6.83 0 NA NA PE1 X +NX_Q9UPG8 496 54584 8.95 0 Cytosol;Nucleoplasm;Nucleus NA PE1 20 +NX_Q9UPI3 526 57241 5.78 12 Cell membrane Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome PE1 14 +NX_Q9UPM6 363 40045 8.77 0 Nucleolus;Nucleus;Cell membrane NA PE1 9 +NX_Q9UPM8 1137 127287 5.66 0 trans-Golgi network membrane Spastic paraplegia 51, autosomal recessive;Stuttering, familial persistent 1 PE1 15 +NX_Q9UPM9 204 22775 6.73 0 Cilium axoneme;Cilium basal body Joubert syndrome 27;Meckel syndrome 9 PE1 17 +NX_Q9UPN3 7388 838308 5.28 0 Cytoplasm;Cytoskeleton;Cell membrane;Golgi apparatus;Ruffle membrane NA PE1 1 +NX_Q9UPN4 1083 122149 8.84 0 Acrosome;Microtubule organizing center;Centriolar satellite;Cytoskeleton;Centrosome;Cilium basal body NA PE1 17 +NX_Q9UPN6 1271 140519 8.41 0 Nucleoplasm;Nucleus matrix;Nucleus NA PE1 6 +NX_Q9UPN7 881 96724 4.45 0 Cytosol;Cytoplasm NA PE1 19 +NX_Q9UPN9 1127 122533 6.23 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 1 +NX_Q9UPP1 1060 117864 8.92 0 Nucleolus;Nucleus Mental retardation, X-linked, syndromic, Siderius type PE1 X +NX_Q9UPP2 1182 127621 6.08 0 Cytoplasm;Postsynaptic density NA PE1 12 +NX_Q9UPP5 1409 155681 5.83 0 Axon;Clathrin-coated vesicle;Presynaptic cell membrane NA PE1 1 +NX_Q9UPQ0 1083 121867 6.1 0 Cytoskeleton;Stress fiber;Cell membrane NA PE1 4 +NX_Q9UPQ3 857 94470 8.18 0 Cytoplasm NA PE1 2 +NX_Q9UPQ4 493 56540 6.71 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 8 +NX_Q9UPQ7 1066 119596 5.68 0 Cytosol;Cytoplasm;Synapse;Nucleus NA PE1 3 +NX_Q9UPQ8 538 59268 8.87 15 Endoplasmic reticulum membrane;Nucleolus;Nucleus;Golgi apparatus Congenital disorder of glycosylation 1M PE1 9 +NX_Q9UPQ9 1833 194002 6.31 0 P-body NA PE1 22 +NX_Q9UPR0 1127 125866 6.47 0 Cytoplasm NA PE1 3 +NX_Q9UPR3 1016 113928 5.63 0 Cytosol;Cytoplasm;Nucleus NA PE1 1 +NX_Q9UPR5 921 100368 5.02 11 Dendrite;Basolateral cell membrane;Perikaryon;Cell membrane;Dendritic spine NA PE1 19 +NX_Q9UPR6 939 101330 8.76 0 Nucleoplasm NA PE1 19 +NX_Q9UPS6 1966 212803 4.86 0 Nucleoplasm;Nucleus speckle;Chromosome NA PE1 12 +NX_Q9UPS8 1710 196411 5.54 0 Cytoplasmic vesicle;Golgi apparatus Thrombocytopenia 2 PE1 10 +NX_Q9UPT5 735 83382 6.33 0 Cytosol;Cytoplasmic vesicle;Midbody ring;Cell membrane NA PE1 17 +NX_Q9UPT6 1336 147457 5.26 0 Axon;Golgi apparatus;Cytoplasm;Cytoplasmic vesicle;Dendrite;Perinuclear region;Growth cone NA PE1 16 +NX_Q9UPT8 1303 140257 5.87 0 Cytosol;Nucleoplasm;Nucleus NA PE1 19 +NX_Q9UPT9 525 59961 8.37 0 Nucleus speckle;Nucleus NA PE1 17 +NX_Q9UPU3 1222 135755 6.14 1 Membrane NA PE1 10 +NX_Q9UPU5 2620 294365 5.79 0 Cytosol;Nucleoplasm NA PE1 1 +NX_Q9UPU7 963 109880 5.85 0 Cytosol NA PE1 15 +NX_Q9UPU9 718 79415 8.61 0 Cytosol;Cytoplasm;Dendrite;Cell junction;Synaptosome NA PE1 14 +NX_Q9UPV0 1460 164314 5.27 0 Centriole;Nucleoplasm;Nucleus;Centrosome Nephronophthisis 15 PE1 11 +NX_Q9UPV7 400 45192 5.48 0 NA NA PE1 9 +NX_Q9UPV9 953 106040 5.59 0 Endosome;Nucleoplasm;Cytoplasm;Cell cortex;Endoplasmic reticulum;Nucleus;Early endosome;Mitochondrion;Mitochondrion membrane NA PE1 3 +NX_Q9UPW0 622 68960 6.59 0 Nucleoplasm;Nucleus speckle;Cytoplasmic vesicle;Nucleus NA PE1 1 +NX_Q9UPW5 1226 138448 5.78 0 Nucleolus;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Mitochondrion NA PE1 9 +NX_Q9UPW6 733 82555 6.44 0 Nucleoplasm;Nucleus matrix Cleft palate isolated PE1 2 +NX_Q9UPW8 1703 193014 5.21 0 Nucleus membrane;Cytosol;Cytoplasm;Cell membrane;Endoplasmic reticulum;Presynaptic cell membrane NA PE1 19 +NX_Q9UPX0 1349 147089 6.22 1 Cytosol;Postsynaptic density;Postsynaptic cell membrane NA PE1 11 +NX_Q9UPX6 916 102993 7.04 1 Golgi apparatus;Cell membrane NA PE1 15 +NX_Q9UPX8 1470 158822 6.48 0 Synapse;Apical cell membrane;Cytoplasm;Dendritic spine;Postsynaptic density;Growth cone Autism 17 PE1 11 +NX_Q9UPY3 1922 218682 5.47 0 Cytosol;Cytoplasm Rhabdomyosarcoma, embryonal, 2;Pleuropulmonary blastoma;Goiter multinodular 1, with or without Sertoli-Leydig cell tumors PE1 14 +NX_Q9UPY5 501 55423 9.29 12 Cytoplasmic vesicle;Membrane NA PE1 4 +NX_Q9UPY6 502 55293 6 0 Cytoskeleton NA PE1 13 +NX_Q9UPY8 281 31982 5.33 0 Cytosol;Cytoskeleton NA PE1 2 +NX_Q9UPZ3 1129 127449 5.35 0 Cytosol Hermansky-Pudlak syndrome 5 PE1 11 +NX_Q9UPZ6 1657 185363 7.74 1 Cell projection;Cell membrane;Secreted NA PE1 7 +NX_Q9UPZ9 632 71427 9.79 0 Nucleolus;Cytosol;Cytoplasm;Nucleus;Cilium;Cilium basal body Juvenile myoclonic epilepsy 10;Endocrine-cerebroosteodysplasia PE1 6 +NX_Q9UQ03 480 54953 8.53 0 Cytoskeleton;Focal adhesion;Cell membrane NA PE1 15 +NX_Q9UQ05 1017 111693 8.87 6 Membrane NA PE1 17 +NX_Q9UQ07 419 48014 9.64 0 Cytoplasm;Nucleus;Cilium;Endoplasmic reticulum NA PE2 14 +NX_Q9UQ10 334 36382 6.76 0 Nucleoplasm;Cytoskeleton NA PE1 19 +NX_Q9UQ13 582 64888 8.65 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Noonan syndrome-like disorder with loose anagen hair 1 PE1 10 +NX_Q9UQ16 869 97746 8.51 0 Cytoplasm;Cytoskeleton;Golgi apparatus NA PE1 1 +NX_Q9UQ26 1411 160403 9.17 0 Cytosol;Synapse;Presynaptic cell membrane;Cell membrane NA PE1 8 +NX_Q9UQ35 2752 299615 12.05 0 Cytoplasm;Nucleus;Nucleus speckle NA PE1 16 +NX_Q9UQ49 428 48252 6.78 0 Nucleoplasm;Cytoplasmic vesicle;Cell membrane NA PE1 11 +NX_Q9UQ52 1028 113956 5.73 0 Cell membrane NA PE1 3 +NX_Q9UQ53 548 63198 7.72 1 Golgi apparatus membrane NA PE1 5 +NX_Q9UQ72 335 37146 6.65 0 Secreted NA PE1 19 +NX_Q9UQ74 426 47772 8.94 0 Secreted NA PE2 19 +NX_Q9UQ80 394 43787 6.13 0 Cytosol;Cytoplasm;Nucleolus NA PE1 12 +NX_Q9UQ84 846 94103 8.59 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q9UQ88 783 91362 5.28 0 Cytoplasm;Nucleus NA PE1 1 +NX_Q9UQ90 795 88235 8.79 2 Mitochondrion inner membrane Spastic paraplegia 7, autosomal recessive PE1 16 +NX_Q9UQB3 1225 132656 7.78 0 Perikaryon;Golgi apparatus;Nucleoplasm;Dendrite;Nucleus;Adherens junction;Cell junction NA PE1 5 +NX_Q9UQB8 552 60868 8.99 0 Ruffle;Cytosol;Cytoplasm;Cell membrane;Filopodium;Membrane;Cytoskeleton NA PE1 17 +NX_Q9UQB9 309 35591 8.96 0 Nucleus;Spindle;Centromere;Chromosome Spermatogenic failure 5 PE1 19 +NX_Q9UQC2 676 74458 8.54 0 Cytoplasm;Cell membrane NA PE1 11 +NX_Q9UQC9 943 103941 6.56 1 Basal cell membrane;Nucleus;Cell junction;Cell membrane;Secreted NA PE1 1 +NX_Q9UQD0 1980 225280 5.95 24 Cytoplasmic vesicle;Cell membrane Seizures, benign familial infantile, 5;Epileptic encephalopathy, early infantile, 13;Cognitive impairment with or without cerebellar ataxia PE1 12 +NX_Q9UQE7 1217 141542 6.77 0 Nucleoplasm;Centromere;Nucleus;Chromosome Cornelia de Lange syndrome 3 PE1 10 +NX_Q9UQF0 538 59866 8.8 1 Virion;Cell membrane NA PE1 7 +NX_Q9UQF2 711 77524 4.87 0 Endoplasmic reticulum membrane;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Mitochondrion membrane Diabetes mellitus, non-insulin-dependent PE1 11 +NX_Q9UQG0 969 109665 9.15 0 NA NA PE2 3 +NX_Q9UQK1 317 36445 7.15 0 NA NA PE1 10 +NX_Q9UQL6 1122 121978 5.83 0 Cytosol;Nucleus speckle;Nucleus;Golgi apparatus;Cytoplasm NA PE1 17 +NX_Q9UQM7 478 54088 6.61 0 Dendrite;Synapse;Dendritic spine;Postsynaptic density Mental retardation, autosomal dominant 53 PE1 5 +NX_Q9UQN3 213 23907 8.81 0 Cytosol;Cytoplasm;Late endosome membrane;Nucleus Frontotemporal dementia, chromosome 3-linked;Amyotrophic lateral sclerosis 17 PE1 3 +NX_Q9UQP3 1299 144034 5.41 0 Extracellular matrix NA PE1 1 +NX_Q9UQQ1 740 80558 5.2 1 Cytosol;Apical cell membrane NA PE1 11 +NX_Q9UQQ2 575 63225 6.75 0 Nucleoplasm Celiac disease 13;Diabetes mellitus, insulin-dependent PE1 12 +NX_Q9UQR0 700 77257 8.79 0 Cytosol;Nucleolus;Nucleus NA PE1 X +NX_Q9UQR1 794 88976 6.03 0 Nucleus;Golgi apparatus Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies PE1 3 +NX_Q9UQV4 416 44346 8.64 1 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Lysosome membrane NA PE1 3 +NX_Q9WJR5 959 108106 8.99 0 NA NA PE2 19 +NX_Q9XRX5 114 12913 9.14 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle NA PE1 1 +NX_Q9Y210 931 106326 6.24 6 Cytosol;Nucleoplasm;Cell membrane Focal segmental glomerulosclerosis 2 PE1 11 +NX_Q9Y215 455 47766 8.42 0 Synapse;Cell junction;Cell membrane Myasthenic syndrome, congenital, 5 PE1 3 +NX_Q9Y216 660 75833 5.94 0 Cytoplasm NA PE1 8 +NX_Q9Y217 621 71968 7.59 0 Cytoplasm;Nucleus envelope NA PE1 13 +NX_Q9Y219 1238 133367 5.53 1 Cytoplasmic vesicle;Cytosol;Membrane NA PE1 14 +NX_Q9Y221 180 20463 8.66 0 Nucleolus;Nucleus NA PE1 16 +NX_Q9Y222 760 84471 4.5 0 Nucleoplasm;Nucleus NA PE1 7 +NX_Q9Y223 722 79275 6.32 0 Cytosol;Cytoplasm Nonaka myopathy;Sialuria PE1 9 +NX_Q9Y224 244 28068 6.19 0 Cytosol;Cytoplasm;Nucleoplasm;Perinuclear region;Nucleus;Centrosome NA PE1 14 +NX_Q9Y225 148 17210 8.88 1 Golgi apparatus membrane;Golgi apparatus NA PE1 20 +NX_Q9Y226 551 60862 7.98 12 Membrane NA PE1 3 +NX_Q9Y227 616 70255 8.55 2 Cytoplasmic vesicle;Autophagosome membrane;Golgi apparatus membrane NA PE1 8 +NX_Q9Y228 551 63626 8.79 1 Cytoplasmic vesicle;Membrane NA PE1 1 +NX_Q9Y230 463 51157 5.49 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus matrix;Membrane;Nucleus;Centrosome NA PE1 19 +NX_Q9Y231 359 42071 7.6 1 Nucleoplasm;Golgi stack membrane;Cytoskeleton;Cytosol NA PE1 6 +NX_Q9Y232 598 66482 9.5 0 Nucleus speckle;Nucleus;Chromosome NA PE1 6 +NX_Q9Y233 779 88412 6.15 0 Cytoplasm Striatal degeneration, autosomal dominant 2;Dyskinesia, limb and orofacial, infantile-onset PE1 6 +NX_Q9Y234 373 42479 8.66 0 Mitochondrion Lipoyltransferase 1 deficiency PE1 2 +NX_Q9Y235 224 25703 4.81 0 NA NA PE1 6 +NX_Q9Y236 505 56672 7.05 0 Nucleolus NA PE1 8 +NX_Q9Y237 131 13810 9.78 0 Nucleolus;Cytoplasm;Mitochondrion matrix;Nucleus;Mitochondrion;Spindle NA PE1 X +NX_Q9Y238 1755 195684 5.92 0 Cytosol;Cytoplasm Lung cancer;Esophageal cancer PE1 3 +NX_Q9Y239 953 107691 6.71 0 Mitochondrion;Cytoplasm;Apical cell membrane;Basolateral cell membrane;Cell membrane NA PE1 7 +NX_Q9Y240 323 35695 5.06 0 Cytoplasm;Centrosome;Secreted NA PE1 19 +NX_Q9Y241 93 10143 9.79 2 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane;Mitochondrion membrane NA PE1 3 +NX_Q9Y242 345 37184 8.71 0 Nucleus NA PE1 6 +NX_Q9Y243 479 55775 5.72 0 Cytosol;Cytoplasm;Nucleus;Membrane Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PE1 1 +NX_Q9Y244 141 15789 5.01 0 Cytosol;Cytoplasm;Nucleus;Microsome membrane;Nucleus speckle Keratosis linearis with ichthyosis congenita and sclerosing keratoderma PE1 13 +NX_Q9Y247 325 38709 8.9 0 Nucleoplasm;Cytoskeleton NA PE1 6 +NX_Q9Y248 185 21428 5.29 0 Nucleoplasm;Nucleus NA PE1 16 +NX_Q9Y250 596 66613 6.64 0 Synapse;Nucleolus;Cytoplasm;Cell membrane;Dendritic spine;Postsynaptic density Esophageal cancer PE1 8 +NX_Q9Y251 543 61149 9.32 0 Nucleoplasm;Cytoplasmic vesicle;Lysosome membrane;Nucleus;Secreted NA PE1 4 +NX_Q9Y252 685 78091 9.16 0 Axon;PML body;Nucleus;Nucleus membrane;Cytoplasm Esophageal cancer PE1 13 +NX_Q9Y253 713 78413 8.74 0 Cytosol;Nucleoplasm;Nucleus Xeroderma pigmentosum variant type PE1 6 +NX_Q9Y255 219 25181 9.56 0 Mitochondrion;Nucleoplasm;Mitochondrion intermembrane space NA PE1 5 +NX_Q9Y256 329 35833 8.33 7 Endoplasmic reticulum membrane NA PE1 11 +NX_Q9Y257 313 33747 6.05 4 Cytosol;Cytoskeleton;Cell membrane;Membrane NA PE1 19 +NX_Q9Y258 94 10648 10.22 0 Secreted NA PE1 7 +NX_Q9Y259 395 45271 5.35 0 Cytosol NA PE1 22 +NX_Q9Y261 457 48306 8.82 0 Nucleoplasm;Cytoplasm;Nucleus;Cell junction NA PE1 20 +NX_Q9Y262 564 66727 5.93 0 Cytoplasm;Nucleolus;Nucleus NA PE1 22 +NX_Q9Y263 795 87157 5.96 0 Synapse;Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies PE1 9 +NX_Q9Y264 503 56849 9.1 0 Secreted NA PE1 20 +NX_Q9Y265 456 50228 6.02 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus matrix;Membrane;Centrosome NA PE1 3 +NX_Q9Y266 331 38243 5.27 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA PE1 1 +NX_Q9Y267 594 66684 8.71 12 Membrane NA PE2 3 +NX_Q9Y271 337 38541 9.43 7 Cell membrane NA PE1 X +NX_Q9Y272 281 31642 9.15 0 Nucleoplasm;Perinuclear region;Nucleus;Cell membrane NA PE1 17 +NX_Q9Y274 331 38214 9.13 1 Golgi apparatus membrane NA PE1 3 +NX_Q9Y275 285 31223 5.92 1 Cell membrane;Secreted NA PE1 13 +NX_Q9Y276 419 47534 8.63 1 Mitochondrion inner membrane Bjoernstad syndrome;GRACILE syndrome;Mitochondrial complex III deficiency, nuclear 1 PE1 2 +NX_Q9Y277 283 30659 8.84 19 Mitochondrion;Mitochondrion outer membrane NA PE1 8 +NX_Q9Y278 367 41501 9.93 1 Golgi apparatus membrane NA PE1 16 +NX_Q9Y279 399 43987 5.93 1 Cytosol;Nucleolus;Cell membrane;Membrane NA PE1 X +NX_Q9Y281 166 18737 7.66 0 Nucleoplasm;Cytosol;Cytoskeleton;Nucleus matrix;Cell membrane Nemaline myopathy 7 PE1 14 +NX_Q9Y282 383 43222 5.68 2 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Nucleoplasm NA PE1 20 +NX_Q9Y283 1065 117826 9.43 0 Cytosol;Cytoplasm;Spindle;Nucleus;Membrane;Cytoskeleton;Cilium Nephronophthisis 2 PE1 9 +NX_Q9Y284 106 12068 8.41 2 Endoplasmic reticulum;Membrane NA PE1 19 +NX_Q9Y285 508 57564 7.31 0 Cytosol;Cytoplasm NA PE1 19 +NX_Q9Y286 467 51143 6.89 1 Membrane NA PE1 19 +NX_Q9Y287 266 30338 5 1 Cytoplasmic vesicle;Golgi apparatus;Secreted;Cell membrane;Endosome membrane;Golgi apparatus membrane Cerebral amyloid angiopathy, ITM2B-related 2;Cerebral amyloid angiopathy, ITM2B-related 1;Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities PE1 13 +NX_Q9Y289 635 68642 8.61 13 Cell junction;Membrane NA PE1 2 +NX_Q9Y291 106 12629 10.11 0 Mitochondrion NA PE1 7 +NX_Q9Y294 204 22969 4.29 0 Nucleus NA PE1 6 +NX_Q9Y295 367 40542 9 0 Cytosol;Cytoplasm;Nucleus NA PE1 22 +NX_Q9Y296 219 24340 5.84 0 Cytosol;cis-Golgi network;Endoplasmic reticulum NA PE1 11 +NX_Q9Y297 605 68867 8.3 0 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA PE1 10 +NX_Q9Y2A4 671 77516 9.3 0 Nucleus NA PE1 19 +NX_Q9Y2A7 1128 128790 6.18 1 Cytosol;Lamellipodium membrane;Cell membrane NA PE1 2 +NX_Q9Y2A9 372 42534 8.96 1 Golgi apparatus membrane NA PE1 19 +NX_Q9Y2B0 182 20652 4.81 0 Cytosol;Endoplasmic reticulum NA PE1 12 +NX_Q9Y2B1 443 51146 8.57 1 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 PE1 12 +NX_Q9Y2B2 252 28531 8.28 1 Nucleoplasm;Endoplasmic reticulum membrane;Cytosol Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome PE1 17 +NX_Q9Y2B4 290 34019 10.56 0 Cytoplasm;Nucleus NA PE1 20 +NX_Q9Y2B5 631 68956 7.1 0 Cytosol;Nucleoplasm NA PE1 16 +NX_Q9Y2B9 76 7910 4.11 0 Cytosol;Nucleoplasm NA PE1 20 +NX_Q9Y2C2 406 47673 8.88 1 Golgi apparatus membrane NA PE1 6 +NX_Q9Y2C3 310 36189 9.03 1 Golgi apparatus membrane NA PE1 21 +NX_Q9Y2C4 368 41085 8.45 0 Mitochondrion inner membrane NA PE1 3 +NX_Q9Y2C5 497 54055 7.45 10 Apical cell membrane;Cell membrane NA PE2 6 +NX_Q9Y2C9 796 91880 6.83 1 Phagosome membrane;Cell membrane;Endoplasmic reticulum;Membrane raft;Golgi apparatus NA PE1 4 +NX_Q9Y2D0 317 36434 7.7 0 Mitochondrion NA PE1 X +NX_Q9Y2D1 282 30674 4.9 0 Cytosol;Cytoplasm;Nucleus;Centrosome;Nucleoplasm NA PE1 19 +NX_Q9Y2D2 325 35985 9.22 8 Golgi apparatus membrane Arthrogryposis, mental retardation, and seizures PE1 1 +NX_Q9Y2D4 811 94201 6.03 0 Cytosol;Nucleoplasm;Nucleus NA PE1 2 +NX_Q9Y2D5 859 94661 5.04 0 NA NA PE1 9 +NX_Q9Y2D8 614 71236 6.03 0 Cytoplasm;Centriolar satellite;Nucleus;Adherens junction;Cell junction;Cilium basal body NA PE1 1 +NX_Q9Y2D9 606 69744 8.92 0 Nucleus NA PE1 17 +NX_Q9Y2E4 1556 170767 7.12 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol NA PE1 10 +NX_Q9Y2E5 1009 113979 6.74 0 Secreted NA PE1 4 +NX_Q9Y2E6 619 67258 9.65 0 Cytoplasmic vesicle;Cytoplasm NA PE1 11 +NX_Q9Y2E8 581 65422 6.07 11 Golgi apparatus membrane NA PE1 20 +NX_Q9Y2F5 2266 247891 5.32 0 Nucleoplasm;Cajal body;Nucleus NA PE1 5 +NX_Q9Y2F9 522 58420 7.42 0 Cytosol;Cytoplasmic vesicle;Nucleus NA PE1 20 +NX_Q9Y2G0 817 92487 6.26 0 Cytosol;Cell membrane NA PE1 2 +NX_Q9Y2G1 1151 124397 7.06 1 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA PE1 11 +NX_Q9Y2G2 431 48933 5.1 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 19 +NX_Q9Y2G3 1177 134190 6.52 10 Cytosol;Endoplasmic reticulum;Microtubule organizing center;trans-Golgi network;Early endosome;Recycling endosome membrane NA PE1 3 +NX_Q9Y2G4 727 79971 9.42 0 Cytoplasmic vesicle NA PE1 6 +NX_Q9Y2G5 429 49976 6.15 0 Golgi apparatus;Endoplasmic reticulum NA PE1 21 +NX_Q9Y2G7 519 61558 9.16 0 Cytosol;Nucleus NA PE1 19 +NX_Q9Y2G8 782 90591 6.67 1 Cytoplasmic vesicle;Membrane NA PE1 1 +NX_Q9Y2G9 1366 150275 6.09 0 NA NA PE1 19 +NX_Q9Y2H0 992 108012 6.65 0 Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Focal adhesion;Membrane NA PE1 20 +NX_Q9Y2H1 464 54003 6.36 0 Cytoplasm;Cytoskeleton;Membrane NA PE1 12 +NX_Q9Y2H2 1132 128407 6.57 0 Recycling endosome;Clathrin-coated pit;Early endosome NA PE1 10 +NX_Q9Y2H5 1048 117128 9.15 0 Cytoplasmic vesicle;Cell junction;Microtubule organizing center NA PE1 1 +NX_Q9Y2H6 1198 131852 6.29 1 Golgi apparatus membrane;Endoplasmic reticulum NA PE1 13 +NX_Q9Y2H8 683 79142 9.18 0 Nucleoplasm;Nucleus;Cell membrane NA PE1 9 +NX_Q9Y2H9 1570 170677 8.67 0 Cytoplasmic vesicle;Cytoskeleton;Cell membrane NA PE1 19 +NX_Q9Y2I1 1504 166629 5.04 0 Cytoplasm;Recycling endosome;Cell membrane;Early endosome NA PE1 3 +NX_Q9Y2I2 539 60541 5.84 0 Cell membrane NA PE1 1 +NX_Q9Y2I6 1382 156344 5.01 0 Cytosol;Cytoplasm;Cytoskeleton;Centrosome NA PE1 20 +NX_Q9Y2I7 2098 237136 6.24 0 Endosome membrane;Nucleus speckle Corneal dystrophy, fleck PE1 2 +NX_Q9Y2I8 494 54665 6.79 0 Cytosol;Cytoplasm;Cytoskeleton;Centrosome NA PE1 10 +NX_Q9Y2I9 924 102743 8.57 0 Cytosol;Cell membrane NA PE1 12 +NX_Q9Y2J0 694 76872 8.62 0 Synapse;Membrane NA PE1 12 +NX_Q9Y2J2 1087 120678 5.09 0 Cytoplasm;Cytoskeleton;Cell junction;Cell membrane NA PE1 18 +NX_Q9Y2J4 779 85764 6.81 0 Recycling endosome;Cell junction NA PE1 3 +NX_Q9Y2J8 665 75564 5.4 0 Cytoplasm NA PE1 1 +NX_Q9Y2K1 713 82016 5.97 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE1 14 +NX_Q9Y2K2 1321 144851 6.3 0 Nucleoplasm;Cytoplasm NA PE1 11 +NX_Q9Y2K3 1946 224619 5.67 0 Nucleoplasm;Mitochondrion;Myofibril;Centrosome NA PE1 3 +NX_Q9Y2K5 976 106999 8.99 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q9Y2K6 914 102003 5.75 0 Cytosol;Perinuclear region;Nucleus;Centrosome;Cell membrane NA PE1 9 +NX_Q9Y2K7 1162 132793 7.73 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q9Y2K9 1186 131887 6.51 0 Cytoplasm;Cell membrane;Membrane NA PE1 3 +NX_Q9Y2L1 958 109003 6.69 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Cytosol NA PE1 13 +NX_Q9Y2L5 1435 160997 6.41 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;cis-Golgi network NA PE1 18 +NX_Q9Y2L6 1034 118047 8.79 0 Adherens junction;Cytoskeleton;Tight junction NA PE1 3 +NX_Q9Y2L8 839 96903 7.43 0 Cytoskeleton;Nucleus NA PE1 7 +NX_Q9Y2L9 728 80875 5.59 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus NA PE1 13 +NX_Q9Y2M0 1017 114225 7.1 0 Nucleoplasm;Cytosol;Cytoskeleton;Nucleus Interstitial nephritis, karyomegalic PE1 15 +NX_Q9Y2M2 353 39845 9.26 0 Cytoplasm;Nucleus NA PE1 3 +NX_Q9Y2M5 609 67955 6.45 0 Golgi apparatus;Cytosol;Axon;Dendrite;Perinuclear region;Nucleus;trans-Golgi network NA PE1 1 +NX_Q9Y2N7 669 72433 5.67 0 Nucleus speckle;Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Mitochondrion NA PE1 19 +NX_Q9Y2P0 537 59631 8.88 0 Cytoskeleton;Nucleus NA PE1 19 +NX_Q9Y2P4 619 70112 8.75 2 Nucleus;Sarcolemma;Membrane NA PE1 5 +NX_Q9Y2P5 690 75385 7.8 2 Endoplasmic reticulum membrane NA PE1 19 +NX_Q9Y2P7 627 71871 9.12 0 Nucleus NA PE1 19 +NX_Q9Y2P8 373 40843 9.36 0 Nucleoplasm;Nucleolus NA PE1 9 +NX_Q9Y2Q0 1164 131369 6.41 10 Golgi apparatus;Endoplasmic reticulum;Cytoplasmic vesicle;Cytoplasmic granule;Cell membrane;Chromaffin granule membrane NA PE1 4 +NX_Q9Y2Q1 563 65779 9.23 0 Nucleus NA PE1 19 +NX_Q9Y2Q3 226 25497 8.51 0 Cytoplasm;Nucleus;Peroxisome NA PE1 7 +NX_Q9Y2Q5 125 13508 5.3 0 Cytoplasmic vesicle;Nucleoplasm;Lysosome membrane;Late endosome membrane;Cytoplasm Immunodeficiency due to defect in MAPBP-interacting protein PE1 1 +NX_Q9Y2Q9 187 20843 9.22 0 Mitochondrion NA PE1 8 +NX_Q9Y2R0 106 11731 9.59 1 Mitochondrion;Mitochondrion inner membrane NA PE1 17 +NX_Q9Y2R2 807 91705 7.5 0 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Cytoplasm Rheumatoid arthritis;Systemic lupus erythematosus;Diabetes mellitus, insulin-dependent;Vitiligo PE1 1 +NX_Q9Y2R4 599 67498 9.69 0 Nucleolus;Nucleus NA PE1 17 +NX_Q9Y2R5 130 14502 9.87 0 Mitochondrion NA PE1 7 +NX_Q9Y2R9 242 28134 10 0 Mitochondrion Combined oxidative phosphorylation deficiency 34 PE1 17 +NX_Q9Y2S2 319 35419 5.81 0 Cytoplasm;Nucleolus;Nucleus;Cell membrane;Golgi apparatus NA PE1 13 +NX_Q9Y2S6 64 7066 10 0 Nucleolus;Nucleus NA PE1 3 +NX_Q9Y2S7 368 42033 8.8 0 Mitochondrion;Nucleus NA PE1 17 +NX_Q9Y2T1 843 93558 7.82 0 Cytosol;Cytoplasm;Nucleus;Cell membrane Oligodontia-colorectal cancer syndrome;Colorectal cancer PE1 17 +NX_Q9Y2T2 418 46939 6.47 0 Cytoplasmic vesicle membrane;Golgi apparatus NA PE1 10 +NX_Q9Y2T3 454 51003 5.44 0 Nucleus NA PE1 9 +NX_Q9Y2T4 447 51515 5.92 0 NA NA PE1 4 +NX_Q9Y2T5 361 41354 8.45 7 Cell membrane NA PE2 1 +NX_Q9Y2T6 319 36637 8.8 7 Cell membrane NA PE1 2 +NX_Q9Y2T7 364 38518 10.8 0 Cytoplasm;Nucleolus;Nucleus NA PE1 17 +NX_Q9Y2U2 307 31947 6.7 4 Cell membrane;Membrane NA PE2 11 +NX_Q9Y2U5 619 69741 8.04 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 2 +NX_Q9Y2U8 911 99997 7.32 2 Nucleus inner membrane;Nucleus membrane Buschke-Ollendorff syndrome PE1 12 +NX_Q9Y2U9 406 46099 6.13 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE1 14 +NX_Q9Y2V0 281 32264 6.15 0 Nucleoplasm Anemia, congenital dyserythropoietic, 1B PE1 15 +NX_Q9Y2V2 147 15892 8.41 0 Cytoplasmic granule;P-body;Cytoplasm NA PE1 16 +NX_Q9Y2V3 346 36676 9.11 0 Nucleus Microphthalmia, isolated, 3 PE1 18 +NX_Q9Y2V7 657 73279 5.51 0 Nucleus speckle;Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2L;Shaheen syndrome PE1 13 +NX_Q9Y2W1 955 108666 10.16 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 1 +NX_Q9Y2W2 641 69998 8.28 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 12 +NX_Q9Y2W3 782 84541 8.01 12 Membrane Intellectual developmental disorder with neuropsychiatric features PE1 1 +NX_Q9Y2W6 561 62046 4.91 0 Cytosol;Cytoplasm;Mitochondrion;Centrosome NA PE1 1 +NX_Q9Y2W7 256 29231 5.23 0 Cell membrane;Nucleus;Endoplasmic reticulum;Golgi apparatus;Cytoplasm NA PE1 2 +NX_Q9Y2X0 877 96793 7.12 0 Nucleolus;Nucleus NA PE1 19 +NX_Q9Y2X3 529 59578 9.03 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 2 +NX_Q9Y2X7 761 84341 6.33 0 Cytosol;Cytoplasm;Focal adhesion NA PE1 17 +NX_Q9Y2X8 147 16649 6.88 0 NA NA PE1 7 +NX_Q9Y2X9 895 96915 8.71 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q9Y2Y0 163 18822 4.23 0 Cytoplasm;Nucleus;Mitochondrion intermembrane space;Spindle;Centrosome;Cilium basal body Retinitis pigmentosa with or without situs inversus PE1 16 +NX_Q9Y2Y1 108 12336 8.05 0 Cytosol;Nucleolus;Nucleus NA PE1 16 +NX_Q9Y2Y4 487 52963 9.36 0 Nucleus NA PE1 19 +NX_Q9Y2Y6 226 24611 4.81 1 Nucleoplasm;Endosome;Membrane Nanophthalmos 4 PE1 17 +NX_Q9Y2Y8 225 25406 4.69 0 Cytoplasmic granule NA PE1 11 +NX_Q9Y2Y9 288 31180 9.63 0 Nucleus NA PE1 15 +NX_Q9Y2Z0 365 41024 5.07 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Cell membrane NA PE1 13 +NX_Q9Y2Z2 717 79964 8.59 0 Mitochondrion;Nucleoplasm;Cytosol Combined oxidative phosphorylation deficiency 10 PE1 6 +NX_Q9Y2Z4 477 53199 9.07 0 Mitochondrion;Mitochondrion matrix;Nucleus Myopathy with lactic acidosis and sideroblastic anemia 2 PE1 12 +NX_Q9Y2Z9 468 50870 6.81 0 Cell projection;Mitochondrion inner membrane;Golgi apparatus Coenzyme Q10 deficiency, primary, 6 PE1 14 +NX_Q9Y303 409 43748 6.21 0 Cytosol;Nucleolus NA PE1 16 +NX_Q9Y305 439 49902 8.81 0 Mitochondrion;Nucleoplasm;Cytosol;Cell membrane NA PE1 X +NX_Q9Y312 384 43472 5.66 0 Cytosol NA PE1 20 +NX_Q9Y314 301 33172 9.05 0 Cytoplasm;Nucleus NA PE1 19 +NX_Q9Y315 318 35231 9.08 0 Cytoplasmic granule;Nucleus;Cytoplasm NA PE1 12 +NX_Q9Y316 297 33733 6.66 0 Cytoplasmic vesicle NA PE1 2 +NX_Q9Y320 296 34038 8.9 1 Nucleoplasm;Cytosol;Membrane NA PE1 11 +NX_Q9Y324 198 23370 9.74 0 Nucleoplasm;Nucleolus NA PE1 14 +NX_Q9Y328 171 19085 9.42 1 Golgi stack membrane;Lysosome lumen;trans-Golgi network membrane;Golgi apparatus;Early endosome membrane;Endosome membrane;Dendrite;Late endosome membrane;Multivesicular body membrane;Membrane;Cytoplasmic vesicle membrane NA PE1 5 +NX_Q9Y330 459 49148 7.26 0 Nucleus NA PE1 6 +NX_Q9Y333 95 10835 6.05 0 Nucleus NA PE1 6 +NX_Q9Y334 891 96060 5.74 0 Cytosol;Cell membrane;Secreted NA PE1 6 +NX_Q9Y336 463 50082 6.86 1 Membrane NA PE1 19 +NX_Q9Y337 293 32020 8.64 0 Secreted NA PE1 19 +NX_Q9Y342 182 19987 9.43 4 Membrane NA PE1 16 +NX_Q9Y343 169 19818 6.71 0 Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA PE1 5 +NX_Q9Y345 797 87434 7.68 12 Cell membrane Hyperekplexia 3 PE1 11 +NX_Q9Y365 291 33049 6.67 0 Cytoplasm;Flagellum;Membrane NA PE1 11 +NX_Q9Y366 437 49706 5.14 0 Cytosol;Cilium Short-rib thoracic dysplasia 16 with or without polydactyly PE1 20 +NX_Q9Y371 365 40796 5.78 0 Autophagosome membrane;Cytosol;Cytoplasm;Mitochondrion outer membrane;Golgi apparatus membrane;Midbody NA PE1 1 +NX_Q9Y375 327 37764 7.11 0 Mitochondrion;Cytosol NA PE1 15 +NX_Q9Y376 341 39869 6.43 0 Cytosol;Cytoplasm;Nucleolus NA PE1 2 +NX_Q9Y383 392 46514 10.02 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 7 +NX_Q9Y385 318 35199 6.26 1 Endoplasmic reticulum membrane NA PE1 6 +NX_Q9Y388 322 37336 9.84 0 Nucleolus;Nucleus membrane NA PE1 X +NX_Q9Y394 339 38299 8.59 0 Mitochondrion;Nucleoplasm NA PE1 14 +NX_Q9Y397 364 40916 8.12 4 Endoplasmic reticulum membrane;Cytosol;Golgi apparatus membrane;Golgi apparatus Mental retardation, X-linked, syndromic, ZDHHC9-related PE1 X +NX_Q9Y399 296 33249 9.37 0 Mitochondrion Combined oxidative phosphorylation deficiency 36 PE1 9 +NX_Q9Y3A0 265 29657 9.29 0 Mitochondrion;Mitochondrion inner membrane Coenzyme Q10 deficiency, primary, 7 PE1 9 +NX_Q9Y3A2 253 30447 10.16 0 Nucleolus;Nucleus NA PE1 1 +NX_Q9Y3A3 225 26032 5.5 0 Golgi stack membrane;Perinuclear region;Golgi apparatus;Membrane NA PE1 2 +NX_Q9Y3A4 280 32334 9.61 0 NA NA PE1 22 +NX_Q9Y3A5 250 28764 8.91 0 Nucleolus;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Spindle Shwachman-Diamond syndrome 1 PE1 7 +NX_Q9Y3A6 229 26005 4.71 1 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 1 +NX_Q9Y3B1 194 21495 6.24 0 Nucleus NA PE1 20 +NX_Q9Y3B2 195 21452 8.51 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA PE1 10 +NX_Q9Y3B3 224 25172 6.43 1 COPI-coated vesicle membrane;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;cis-Golgi network membrane NA PE1 5 +NX_Q9Y3B4 125 14585 9.41 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q9Y3B6 208 23061 5.53 0 Cytoplasm;Golgi apparatus NA PE1 14 +NX_Q9Y3B7 192 20683 9.91 0 Mitochondrion NA PE1 11 +NX_Q9Y3B8 237 26833 6.4 0 Nucleolus;Cytoplasm;Mitochondrion matrix;Focal adhesion;Nucleus;Mitochondrion intermembrane space;Mitochondrion NA PE1 11 +NX_Q9Y3B9 282 31484 5.39 0 Mitochondrion;Cytoplasm;Nucleolus;Nucleus NA PE1 1 +NX_Q9Y3C0 194 21173 4.35 0 Cytoplasmic vesicle;Early endosome NA PE1 12 +NX_Q9Y3C1 178 21188 9.94 0 Nucleolus NA PE1 5 +NX_Q9Y3C4 175 19661 6.31 0 Cytosol;Nucleus Galloway-Mowat syndrome 5 PE1 2 +NX_Q9Y3C5 154 17444 4.64 0 Cytoplasm;Recycling endosome;Nucleus;Early endosome NA PE1 1 +NX_Q9Y3C6 166 18237 7.78 0 Nucleolus;Nucleus NA PE1 6 +NX_Q9Y3C7 131 15805 8.72 0 Nucleus NA PE1 17 +NX_Q9Y3C8 167 19458 6.91 0 Cytosol;Nucleus speckle NA PE1 1 +NX_Q9Y3D0 163 17663 5.07 0 Nucleoplasm;Cytosol;Spindle;Nucleus NA PE1 16 +NX_Q9Y3D2 182 19536 8.95 0 Mitochondrion NA PE1 10 +NX_Q9Y3D3 137 15345 9.59 0 Mitochondrion;Cytosol Combined oxidative phosphorylation deficiency 2 PE1 10 +NX_Q9Y3D5 142 15850 9.63 0 Mitochondrion NA PE1 4 +NX_Q9Y3D6 152 16938 8.84 1 Mitochondrion;Peroxisome membrane;Mitochondrion outer membrane NA PE1 7 +NX_Q9Y3D7 125 13825 9.69 0 Mitochondrion inner membrane Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type PE1 16 +NX_Q9Y3D8 172 20061 4.48 0 Nucleoplasm;Cajal body NA PE1 5 +NX_Q9Y3D9 190 21771 8.94 0 Mitochondrion;Nucleus membrane NA PE1 17 +NX_Q9Y3E0 138 15426 10.36 4 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus membrane;Endoplasmic reticulum NA PE1 12 +NX_Q9Y3E1 203 22620 7.7 0 Nucleoplasm;Nucleus NA PE1 15 +NX_Q9Y3E2 137 14289 7.82 0 Mitochondrion NA PE1 1 +NX_Q9Y3E5 179 19194 8.95 0 Mitochondrion Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset PE1 17 +NX_Q9Y3E7 222 25073 5.1 0 Cytosol;Endosome;Late endosome membrane;Membrane NA PE1 2 +NX_Q9Y3F1 56 6535 4.49 0 NA NA PE5 6 +NX_Q9Y3F4 350 38438 4.98 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 12 +NX_Q9Y3I0 505 55210 6.77 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA PE1 22 +NX_Q9Y3I1 522 58503 6.11 0 Cytosol;Cytoplasm;Mitochondrion;Nucleus Parkinson disease 15 PE1 22 +NX_Q9Y3L3 701 75713 6.33 0 Phagocytic cup;Cytosol;Nucleus;Adherens junction;Cell projection;Tight junction NA PE1 22 +NX_Q9Y3L5 183 20745 4.87 0 Cytoplasm;Recycling endosome membrane NA PE1 X +NX_Q9Y3M2 126 14470 9.09 0 Centriole;Nucleus speckle;Golgi apparatus;trans-Golgi network;Cilium basal body NA PE1 22 +NX_Q9Y3M8 1113 124967 6.57 0 Nucleolus;Nucleus membrane;Cytosol;Cytoplasm;Lipid droplet;Membrane;Mitochondrion membrane NA PE1 13 +NX_Q9Y3M9 751 86875 9.74 0 Nucleus speckle;Nucleus;Cell membrane NA PE1 20 +NX_Q9Y3N9 320 36101 9.24 7 Cell membrane NA PE2 6 +NX_Q9Y3P4 386 40484 6.1 5 Cytoskeleton;Membrane NA PE1 22 +NX_Q9Y3P8 196 21126 5.91 1 Cell membrane NA PE1 9 +NX_Q9Y3P9 1069 121737 5.15 0 Cytosol;Centrosome NA PE1 9 +NX_Q9Y3Q0 740 83592 8.56 1 Nucleus;Cell membrane NA PE1 11 +NX_Q9Y3Q3 217 24777 5.4 1 Endoplasmic reticulum membrane;Golgi stack membrane;Golgi apparatus;COPI-coated vesicle membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 15 +NX_Q9Y3Q4 1203 129042 9.07 6 Cell membrane Sick sinus syndrome 2;Brugada syndrome 8 PE1 15 +NX_Q9Y3Q7 739 82856 7.16 1 Membrane NA PE1 8 +NX_Q9Y3Q8 395 41026 6.69 0 Cytosol;Nucleus NA PE1 7 +NX_Q9Y3R0 1128 122422 6.03 0 Cytoplasmic vesicle;Postsynaptic cell membrane;Endoplasmic reticulum Fraser syndrome 3 PE1 12 +NX_Q9Y3R4 380 42254 6.39 0 Cytoplasm NA PE1 2 +NX_Q9Y3R5 2298 258230 5.9 0 Nucleoplasm;Mitochondrion;Golgi apparatus membrane NA PE1 21 +NX_Q9Y3S1 2297 242676 5.79 0 Cytosol;Cytoplasm;Cell membrane NA PE1 9 +NX_Q9Y3S2 320 36201 5.79 0 Centromere;Nucleolus;Nucleus NA PE1 4 +NX_Q9Y3T6 440 49092 5.47 0 Cytosol;Nucleoplasm NA PE1 8 +NX_Q9Y3T9 749 84919 5.46 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 1 +NX_Q9Y3U8 105 12254 11.59 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA PE1 19 +NX_Q9Y3V2 267 30543 5.81 0 Cytoplasm;Nucleus NA PE1 1 +NX_Q9Y3X0 531 59703 5.32 0 Cytosol;Cytoplasm NA PE1 19 +NX_Q9Y3Y2 248 26397 12.24 0 Nucleoplasm;Nucleus speckle;Nucleolus;Nucleus NA PE1 1 +NX_Q9Y3Y4 419 45116 6.38 0 Cytosol;Nucleoplasm;Nucleus NA PE1 15 +NX_Q9Y3Z3 626 72201 6.69 0 Nucleoplasm;Nucleus;Cell membrane;Chromosome Aicardi-Goutieres syndrome 5;Chilblain lupus 2 PE1 20 +NX_Q9Y421 112 13178 9.99 0 Nucleolus;Nucleus NA PE1 19 +NX_Q9Y426 696 75533 6.47 1 Nucleoplasm;Membrane NA PE1 21 +NX_Q9Y442 160 17735 8.46 1 Membrane NA PE2 22 +NX_Q9Y446 797 87082 9.39 0 Nucleoplasm;Cytosol;Nucleus;Cell junction;Desmosome NA PE1 11 +NX_Q9Y448 316 35438 5.98 0 Kinetochore;Cytosol;Spindle pole;Nucleus;Spindle;Cytoskeleton NA PE1 15 +NX_Q9Y450 684 75473 6.17 0 Cytosol;Nucleus NA PE1 6 +NX_Q9Y458 520 57910 6.92 0 Nucleus Cleft palate with or without ankyloglossia, X-linked;Abruzzo-Erickson syndrome PE1 X +NX_Q9Y462 761 86245 6.4 0 Nucleoplasm;Nucleus Mental retardation, X-linked 97 PE1 X +NX_Q9Y463 629 69198 9.25 0 Nucleus Abdominal obesity-metabolic syndrome 3 PE1 19 +NX_Q9Y466 385 42589 9.18 0 Nucleus NA PE1 6 +NX_Q9Y467 1007 105309 5.89 0 Cytoplasmic vesicle;Nucleus Coloboma, ocular, autosomal recessive PE1 14 +NX_Q9Y468 840 92297 5.65 0 Nucleus NA PE1 20 +NX_Q9Y471 501 58380 5.96 0 Cytoplasm NA PE1 6 +NX_Q9Y473 711 81609 8.98 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Nucleoplasm NA PE1 19 +NX_Q9Y478 270 30382 5.94 0 Nucleoplasm;Cytosol NA PE1 12 +NX_Q9Y483 593 67090 9 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q9Y484 360 39868 6.74 0 Preautophagosomal structure;Nucleolus Neurodegeneration with brain iron accumulation 5 PE1 X +NX_Q9Y485 3027 337839 5.91 0 Cytosol;Nucleolus NA PE1 5 +NX_Q9Y487 856 98082 6.18 8 Cytosol;Endosome membrane;Cell membrane Cutis laxa, autosomal recessive, 2A;Wrinkly skin syndrome PE1 12 +NX_Q9Y490 2541 269767 5.77 0 Cytosol;Cell membrane;Microtubule organizing center;Focal adhesion;Ruffle membrane;Cell surface;Cytoskeleton NA PE1 9 +NX_Q9Y493 2812 305630 5.76 1 Cell membrane NA PE1 7 +NX_Q9Y496 699 80041 6.16 0 Centriole;Cytosol;Cytoskeleton;Cilium;Nucleoplasm NA PE1 5 +NX_Q9Y4A0 524 59912 8.26 0 Cytoskeleton;Nucleus NA PE1 11 +NX_Q9Y4A5 3859 437600 8.49 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 7 +NX_Q9Y4A8 694 76154 5.21 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 7 +NX_Q9Y4A9 318 35254 9.07 7 Cell membrane NA PE2 19 +NX_Q9Y4B4 1467 162769 5.75 0 Cytosol;Nucleus NA PE1 3 +NX_Q9Y4B5 1905 209526 6.03 0 Midbody;Cytoskeleton;Apical cell membrane;Spindle pole;Lateral cell membrane NA PE1 18 +NX_Q9Y4B6 1507 169007 4.92 0 Cytoplasm;Nucleolus;Nucleus NA PE1 3 +NX_Q9Y4C0 1643 180599 5.33 1 Membrane NA PE1 14 +NX_Q9Y4C1 1321 147341 8.4 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 2 +NX_Q9Y4C2 921 102126 6.12 0 Cell membrane NA PE1 7 +NX_Q9Y4C4 1052 116950 8.02 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 8 +NX_Q9Y4C5 530 57857 10 1 trans-Golgi network membrane;Golgi apparatus NA PE1 3 +NX_Q9Y4C8 960 107332 6.13 0 Nucleoplasm;Cytoplasm;Nucleolus;Chromosome NA PE1 12 +NX_Q9Y4D1 1078 123473 6.81 0 Cytosol;Cytoplasm;Cell membrane;Cilium basal body NA PE1 14 +NX_Q9Y4D2 1042 114952 5.95 4 Cell membrane Spinocerebellar ataxia 20 PE1 11 +NX_Q9Y4D7 1925 212007 6.8 1 Lamellipodium membrane;Cell membrane NA PE1 3 +NX_Q9Y4D8 3996 439344 5.82 1 Cytoplasmic vesicle;Nucleoplasm;Membrane NA PE1 12 +NX_Q9Y4E1 1320 144911 4.66 0 Early endosome membrane;Cell membrane NA PE1 10 +NX_Q9Y4E5 1061 121484 6.3 0 Nucleoplasm;PML body;Nucleus NA PE1 6 +NX_Q9Y4E6 1490 163810 6.47 0 Nucleoplasm;Cytosol NA PE1 18 +NX_Q9Y4E8 981 112419 5.06 0 Cytosol;Cytoplasm;Mitochondrion;Nucleus NA PE1 12 +NX_Q9Y4F1 1045 118633 8.33 0 Synaptosome;Synapse;Dendritic spine;Cytosol;Cell membrane;Dendrite;Filopodium NA PE1 13 +NX_Q9Y4F3 1742 192859 8.14 0 Cytoplasmic vesicle;Golgi apparatus;Peroxisome NA PE1 16 +NX_Q9Y4F4 1720 189360 8.73 0 Nucleoplasm;Cytoskeleton;Cilium NA PE1 14 +NX_Q9Y4F5 1589 171688 6.39 0 Cytosol;Cytoskeleton;Centrosome NA PE1 14 +NX_Q9Y4F9 1068 118519 5.29 0 Apical cell membrane;Cytoplasm;Stereocilium;Filopodium;Cytoskeleton;Stereocilium membrane Deafness, autosomal recessive, 104 PE1 6 +NX_Q9Y4G2 1056 117443 6.08 0 Endosome membrane;Lysosome membrane;Lysosome;Cytoplasm;Cytoplasmic vesicle;Nucleolus Osteopetrosis, autosomal recessive 6;Osteopetrosis, autosomal dominant 3 PE1 17 +NX_Q9Y4G6 2542 271613 5.4 0 Synapse;Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Cytoskeleton NA PE1 15 +NX_Q9Y4G8 1499 167417 6.21 0 Late endosome;Nucleoplasm;Cytoplasm;Cell membrane;Cell junction;Cytoplasmic vesicle;Perinuclear region;Centrosome NA PE1 4 +NX_Q9Y4H2 1338 137334 8.9 0 Cytosol NA PE1 13 +NX_Q9Y4H4 160 17866 4.95 0 Cytoplasm NA PE1 6 +NX_Q9Y4I1 1855 215405 8.7 0 Focal adhesion;Microtubule organizing center Elejalde syndrome;Griscelli syndrome 1;Griscelli syndrome 3 PE1 15 +NX_Q9Y4I5 508 55025 5.5 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 11 +NX_Q9Y4J8 743 83901 6.43 0 Synapse;Nucleoplasm;Cytoplasm;Cell membrane;Cytoskeleton;Cell junction Left ventricular non-compaction 1 PE1 18 +NX_Q9Y4K0 774 86725 5.95 0 Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Basement membrane;Nucleus;Chromosome NA PE1 8 +NX_Q9Y4K1 1723 188676 5.61 0 Cytosol;Cytoskeleton;Nucleus NA PE1 6 +NX_Q9Y4K3 522 59573 6 0 Nucleolus;Cytoplasm;Lipid droplet;Cell cortex;Nucleus;Mitochondrion NA PE1 11 +NX_Q9Y4K4 846 95024 7.97 0 Cytosol;Cytoplasm;Cell membrane NA PE1 14 +NX_Q9Y4L1 999 111335 5.16 0 Endoplasmic reticulum lumen NA PE1 11 +NX_Q9Y4L5 304 33703 5.39 0 Mitochondrion;Cytosol;Nucleolus NA PE1 1 +NX_Q9Y4M8 146 16018 11.24 0 NA NA PE5 8 +NX_Q9Y4P1 393 44294 4.91 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 2 +NX_Q9Y4P3 447 49798 9.52 0 Cytosol NA PE1 7 +NX_Q9Y4P8 454 49408 6.04 0 Nucleoplasm;Cytoplasm;Preautophagosomal structure membrane;Cytosol NA PE1 7 +NX_Q9Y4P9 236 26987 9.7 0 Cytoplasm;Cytoskeleton;Flagellum;Cilium axoneme NA PE1 20 +NX_Q9Y4R7 772 87414 8.73 0 Cytoskeleton;Cilium;Cilium axoneme NA PE1 3 +NX_Q9Y4R8 837 91747 5.54 0 Cytosol;Cytoplasm;Telomere;Nucleus;Membrane You-Hoover-Fong syndrome PE1 16 +NX_Q9Y4U1 282 31728 7.69 0 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm Methylmalonic aciduria and homocystinuria, cblC type PE1 1 +NX_Q9Y4W2 734 83065 4.64 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleolus;Microtubule organizing center Wilson-Turner X-linked mental retardation syndrome PE1 X +NX_Q9Y4W6 797 88584 8.81 2 Mitochondrion;Mitochondrion inner membrane Spinocerebellar ataxia 28;Spastic ataxia 5, autosomal recessive PE1 18 +NX_Q9Y4X0 333 35463 8.96 0 Nucleus Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis;Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis PE1 X +NX_Q9Y4X1 527 59926 9.07 1 Membrane NA PE1 4 +NX_Q9Y4X3 112 12618 8.95 0 Secreted NA PE1 9 +NX_Q9Y4X4 402 44240 9.74 0 Nucleoplasm;Cytosol;Nucleus NA PE1 13 +NX_Q9Y4X5 557 64118 4.97 0 Cajal body;Nucleus;Golgi apparatus;Cytoplasm NA PE1 15 +NX_Q9Y4Y9 91 9937 4.42 0 Nucleus NA PE1 7 +NX_Q9Y4Z0 139 15350 10.02 0 Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_Q9Y4Z2 214 23077 9.61 0 Nucleus Diarrhea 4, malabsorptive, congenital PE1 10 +NX_Q9Y508 228 25694 6.99 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 20 +NX_Q9Y512 469 51976 6.44 0 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA PE1 22 +NX_Q9Y519 407 45562 6.45 7 Nucleoplasm;Cytosol;Golgi apparatus;Membrane NA PE1 22 +NX_Q9Y520 2896 316911 9.17 0 Cytosol NA PE1 1 +NX_Q9Y530 152 17025 8.55 0 Nucleolus;Nucleus NA PE1 6 +NX_Q9Y534 153 16786 7.02 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 22 +NX_Q9Y535 204 22918 4.47 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Centrosome NA PE1 22 +NX_Q9Y536 164 18182 9.32 0 Cytoplasm NA PE1 1 +NX_Q9Y543 173 18470 9.88 0 Nucleus NA PE2 1 +NX_Q9Y546 428 48571 7.2 0 Nucleoplasm NA PE1 1 +NX_Q9Y547 144 16297 4.93 0 Cytosol;Nucleoplasm;Cilium NA PE1 1 +NX_Q9Y548 306 34277 5.13 5 Nucleoplasm;cis-Golgi network membrane;Late endosome membrane;trans-Golgi network membrane;Endoplasmic reticulum NA PE1 1 +NX_Q9Y561 859 94984 5.07 1 Mitochondrion;Coated pit;Nucleolus;Cell membrane;Membrane NA PE1 8 +NX_Q9Y566 2161 224959 8.29 0 Cytoplasm;Synapse;Cell membrane;Postsynaptic density NA PE1 19 +NX_Q9Y570 386 42315 5.67 0 Nucleus NA PE1 11 +NX_Q9Y572 518 56887 6.08 0 Cytosol;Mitochondrion;Cell membrane NA PE1 14 +NX_Q9Y573 584 65261 5.49 0 Cytoskeleton NA PE1 1 +NX_Q9Y574 426 48195 7.57 0 NA NA PE1 7 +NX_Q9Y575 518 57745 5.84 0 NA NA PE1 2 +NX_Q9Y576 335 37014 8.55 0 Nucleoplasm NA PE1 2 +NX_Q9Y577 477 54418 6.62 0 Cytoplasmic vesicle NA PE1 1 +NX_Q9Y580 266 30504 9.56 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q9Y581 213 24860 9.71 0 Secreted NA PE1 9 +NX_Q9Y584 194 20031 7.51 3 Mitochondrion inner membrane NA PE1 17 +NX_Q9Y585 309 34396 8.81 7 Cell membrane NA PE2 17 +NX_Q9Y586 359 40923 8.87 0 Cytoplasm;Nucleus Microphthalmia/coloboma and skeletal dysplasia syndrome PE1 4 +NX_Q9Y587 144 17005 5.08 0 Cytoplasmic vesicle;trans-Golgi network membrane Spastic paraplegia 52, autosomal recessive PE1 14 +NX_Q9Y592 701 82940 5.9 0 Centriole;Nucleus;Golgi apparatus Nephronophthisis 18 PE1 12 +NX_Q9Y597 815 88984 6.58 0 Cytosol;Cell membrane NA PE1 1 +NX_Q9Y5A6 473 53658 7.81 0 Nucleus;Endoplasmic reticulum NA PE1 7 +NX_Q9Y5A7 615 70538 5.71 0 Nucleolus;Nucleus NA PE1 7 +NX_Q9Y5A9 579 62334 8.87 0 Cytosol;Cytoplasm;P-body;Nucleus NA PE1 1 +NX_Q9Y5B0 961 104399 5.17 0 Nucleoplasm;Spindle pole;Midbody;Cytoplasmic vesicle;Nucleus;Centrosome Congenital cataracts, facial dysmorphism, and neuropathy PE1 18 +NX_Q9Y5B6 917 104804 5.52 0 Cytosol;Nucleoplasm;Nucleus NA PE1 21 +NX_Q9Y5B8 376 42492 6.03 0 Mitochondrion NA PE1 1 +NX_Q9Y5B9 1047 119914 5.5 0 Nucleolus;Nucleus;Chromosome NA PE1 14 +NX_Q9Y5C1 460 53637 6.24 0 Lamellipodium;Secreted Hypobetalipoproteinemia, familial, 2 PE1 1 +NX_Q9Y5E1 797 87099 4.88 1 Cell membrane NA PE2 5 +NX_Q9Y5E2 793 86707 4.9 1 Cell membrane NA PE1 5 +NX_Q9Y5E3 794 87350 4.89 1 Cytosol;Nucleus;Cell membrane NA PE1 5 +NX_Q9Y5E4 795 86423 4.87 1 Cell membrane NA PE1 5 +NX_Q9Y5E5 795 87270 5.05 1 Cytosol;Cytoskeleton;Cell membrane NA PE2 5 +NX_Q9Y5E6 796 86773 4.88 1 Cytoplasmic vesicle;Cell membrane NA PE1 5 +NX_Q9Y5E7 798 87254 4.76 1 Nucleoplasm;Cell membrane NA PE1 5 +NX_Q9Y5E8 787 86329 4.74 1 Mitochondrion;Cell membrane NA PE1 5 +NX_Q9Y5E9 798 87548 4.81 1 Cytoplasmic vesicle;Cell membrane NA PE1 5 +NX_Q9Y5F0 798 87552 4.81 1 Cell membrane NA PE1 5 +NX_Q9Y5F1 795 86770 4.72 1 Cell membrane NA PE2 5 +NX_Q9Y5F2 797 87088 4.74 1 Cell membrane NA PE1 5 +NX_Q9Y5F3 818 90491 5.2 1 Cell membrane NA PE2 5 +NX_Q9Y5F6 944 101921 4.85 1 Cell membrane NA PE1 5 +NX_Q9Y5F7 938 101214 5.16 1 Cell membrane NA PE1 5 +NX_Q9Y5F8 929 100974 4.94 1 Cell membrane NA PE1 5 +NX_Q9Y5F9 930 101043 5.09 1 Cell membrane NA PE2 5 +NX_Q9Y5G0 923 99875 4.92 1 Cell membrane NA PE1 5 +NX_Q9Y5G1 929 101204 4.87 1 Cell membrane NA PE1 5 +NX_Q9Y5G2 931 100875 4.89 1 Cell membrane NA PE1 5 +NX_Q9Y5G3 927 100360 4.92 1 Cell membrane NA PE2 5 +NX_Q9Y5G4 932 101687 4.91 1 Cell membrane NA PE1 5 +NX_Q9Y5G5 932 101480 5.1 1 Cell membrane NA PE2 5 +NX_Q9Y5G6 932 101722 4.73 1 Cell membrane NA PE1 5 +NX_Q9Y5G7 932 100871 4.75 1 Cell membrane NA PE1 5 +NX_Q9Y5G8 931 100935 4.71 1 Cell membrane NA PE2 5 +NX_Q9Y5G9 962 103968 4.79 1 Cell membrane NA PE1 5 +NX_Q9Y5H0 932 100971 4.86 1 Cell membrane NA PE1 5 +NX_Q9Y5H1 932 101484 4.85 1 Cell membrane NA PE1 5 +NX_Q9Y5H2 935 101543 4.81 1 Cell membrane NA PE1 5 +NX_Q9Y5H3 936 101447 4.78 1 Cell membrane NA PE1 5 +NX_Q9Y5H4 931 101226 4.87 1 Cell membrane NA PE2 5 +NX_Q9Y5H5 950 102402 4.94 1 Cell membrane NA PE2 5 +NX_Q9Y5H6 950 103051 5.13 1 Cell membrane NA PE2 5 +NX_Q9Y5H7 936 102048 5.28 1 Cell membrane NA PE1 5 +NX_Q9Y5H8 950 102428 4.95 1 Cell membrane NA PE2 5 +NX_Q9Y5H9 948 102063 5.08 1 Cell membrane NA PE1 5 +NX_Q9Y5I0 950 102483 5.08 1 Cell membrane NA PE2 5 +NX_Q9Y5I1 949 103298 5.22 1 Cytosol;Cytoplasmic vesicle;Cell junction;Cell membrane NA PE2 5 +NX_Q9Y5I2 948 102875 5.04 1 Cell membrane;Secreted NA PE1 5 +NX_Q9Y5I3 950 102952 5.03 1 Cell membrane;Secreted NA PE2 5 +NX_Q9Y5I4 1007 109450 5.26 1 Nucleoplasm;Mitochondrion;Cell membrane NA PE1 5 +NX_Q9Y5I7 305 33836 8.26 4 Tight junction;Cell membrane Hypomagnesemia 3 PE1 3 +NX_Q9Y5J1 556 62004 8.93 0 Nucleolus;Nucleus;Nucleus membrane NA PE1 17 +NX_Q9Y5J3 304 32613 8.99 0 Nucleoplasm;Cytosol;Nucleus;Nucleus membrane NA PE1 8 +NX_Q9Y5J5 127 13891 9.72 0 Cytoplasm;Membrane NA PE1 1 +NX_Q9Y5J6 103 11586 6.95 0 Mitochondrion inner membrane NA PE1 11 +NX_Q9Y5J7 89 10378 6.71 0 Mitochondrion;Mitochondrion inner membrane NA PE1 14 +NX_Q9Y5J9 83 9344 5.02 0 Mitochondrion inner membrane NA PE1 11 +NX_Q9Y5K1 396 44537 9.05 0 Nucleus NA PE2 20 +NX_Q9Y5K2 254 27032 4.8 0 Secreted Amelogenesis imperfecta, hypomaturation type, 2A1 PE1 19 +NX_Q9Y5K3 369 41940 5.99 0 Endoplasmic reticulum NA PE1 X +NX_Q9Y5K5 329 37607 5.23 0 Mitochondrion;Cytoplasm;Nucleus;Nucleoplasm NA PE1 1 +NX_Q9Y5K6 639 71451 6.07 0 Ruffle;Cytosol;Cytoplasm;Cell membrane;Cytoskeleton;Cell junction Focal segmental glomerulosclerosis 3 PE1 6 +NX_Q9Y5K8 247 28263 9.36 0 Nucleoplasm;Membrane NA PE1 14 +NX_Q9Y5L0 923 104203 5.35 0 Cytoplasmic vesicle;Cytoplasm;Nucleus Limb-girdle muscular dystrophy 1F PE1 7 +NX_Q9Y5L2 63 6950 6.71 1 Nucleoplasm;Membrane;Lipid droplet;Secreted NA PE1 7 +NX_Q9Y5L3 495 53665 8.58 2 Endoplasmic reticulum membrane;Cell membrane NA PE1 9 +NX_Q9Y5L4 95 10500 8.42 0 Mitochondrion;Nucleolus;Mitochondrion inner membrane NA PE1 19 +NX_Q9Y5L5 61 6908 8.61 0 NA NA PE2 1 +NX_Q9Y5M1 114 11973 7.75 0 NA NA PE5 17 +NX_Q9Y5M6 44 5321 9.78 0 NA NA PE2 1 +NX_Q9Y5M8 271 29702 9.17 1 Endoplasmic reticulum membrane;Cell membrane NA PE1 3 +NX_Q9Y5N1 445 48671 9.43 7 Cell membrane NA PE1 20 +NX_Q9Y5N5 214 22957 5.02 0 Nucleoplasm;Nucleus;Centrosome NA PE1 21 +NX_Q9Y5N6 252 28107 8.91 0 Nucleolus;Nucleus Meier-Gorlin syndrome 3 PE1 16 +NX_Q9Y5P0 310 34912 8.35 7 Cell membrane NA PE2 11 +NX_Q9Y5P1 312 35373 8.94 7 Cell membrane NA PE2 11 +NX_Q9Y5P2 127 14430 10.33 0 NA NA PE2 X +NX_Q9Y5P3 530 57180 5.14 0 Cell membrane NA PE1 X +NX_Q9Y5P4 624 70835 5.29 0 Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Golgi apparatus Mental retardation, autosomal dominant 34 PE1 5 +NX_Q9Y5P6 360 39834 6.16 0 Cytoplasm;Nucleus Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14;Muscular dystrophy-dystroglycanopathy limb-girdle C14;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 PE1 3 +NX_Q9Y5P8 575 65061 5.01 0 Nucleus;Endoplasmic reticulum NA PE1 X +NX_Q9Y5Q0 445 51145 7.42 4 Endoplasmic reticulum membrane;Nucleolus NA PE1 11 +NX_Q9Y5Q3 323 35792 7.17 0 Cytosol;Nucleolus;Nucleus;Golgi apparatus Duane retraction syndrome 3 with or without deafness;Multicentric carpotarsal osteolysis syndrome PE1 20 +NX_Q9Y5Q5 1042 116486 4.87 1 Cytoskeleton;Nucleus;Cell membrane;Secreted Pre-eclampsia/eclampsia 5 PE1 4 +NX_Q9Y5Q6 135 15333 6.81 0 Secreted NA PE1 1 +NX_Q9Y5Q8 519 59571 6.47 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q9Y5Q9 886 101272 4.98 0 Nucleus;Nucleus membrane NA PE1 2 +NX_Q9Y5R2 645 73231 9.3 1 Nucleolus;trans-Golgi network membrane;Cell membrane;Extracellular matrix NA PE1 20 +NX_Q9Y5R4 338 38231 6.22 0 Mitochondrion NA PE1 3 +NX_Q9Y5R5 561 61814 6.37 0 Nucleus NA PE2 9 +NX_Q9Y5R6 373 39473 7.54 0 Nucleus 46,XY sex reversal 4;Testicular germ cell tumor PE1 9 +NX_Q9Y5R8 145 16832 9.23 0 cis-Golgi network;Endoplasmic reticulum NA PE1 17 +NX_Q9Y5S1 764 85981 5.56 6 Cytoplasm;Melanosome;Cell membrane NA PE1 17 +NX_Q9Y5S2 1711 194315 5.97 0 Cytoplasm;Cell junction;Cell membrane;Lamellipodium NA PE1 14 +NX_Q9Y5S8 564 64871 8.79 6 Invadopodium membrane;Cell membrane NA PE1 X +NX_Q9Y5S9 174 19889 5.5 0 Cytoplasm;Nucleus;Nucleus speckle NA PE1 1 +NX_Q9Y5T4 150 16383 10.08 1 Mitochondrion inner membrane NA PE1 13 +NX_Q9Y5T5 823 93570 6.5 0 Cytosol;Nucleoplasm;Nucleus NA PE1 21 +NX_Q9Y5U2 329 34326 5.07 0 Cytosol;Nucleoplasm NA PE1 11 +NX_Q9Y5U4 225 24778 8.16 5 Endoplasmic reticulum membrane NA PE1 2 +NX_Q9Y5U5 241 26000 5.97 1 Cell membrane;Secreted NA PE1 1 +NX_Q9Y5U8 109 12347 9.67 2 Mitochondrion;Mitochondrion inner membrane Mitochondrial pyruvate carrier deficiency PE1 6 +NX_Q9Y5U9 82 8969 7.96 2 Endoplasmic reticulum membrane;Endoplasmic reticulum Microcephaly, epilepsy, and diabetes syndrome PE1 18 +NX_Q9Y5V0 76 8498 10.02 0 Cytoplasm;Nucleus;Cell membrane NA PE1 8 +NX_Q9Y5V3 778 86161 5.64 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 X +NX_Q9Y5W3 355 37420 9.06 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q9Y5W5 379 41528 7.84 0 Secreted NA PE1 12 +NX_Q9Y5W7 946 110182 6.28 2 Cytosol;Dendrite;Late endosome membrane;Lysosome membrane Spinocerebellar ataxia, autosomal recessive, 20 PE1 6 +NX_Q9Y5W8 968 112189 6.15 0 Early endosome membrane NA PE1 7 +NX_Q9Y5W9 270 30433 6.61 0 Cytosol;Endosome;Membrane NA PE1 17 +NX_Q9Y5X0 201 23598 5.5 0 Nucleolus;Cytoplasm;Endosome membrane;Nucleus;Cytoskeleton;Centrosome Osteopetrosis, autosomal recessive 8 PE1 7 +NX_Q9Y5X1 595 66592 5.4 0 Ruffle;Cytosol;Cytoplasm;Cell membrane;trans-Golgi network;Cytoplasmic vesicle membrane;Clathrin-coated vesicle NA PE1 6 +NX_Q9Y5X2 465 52569 6.96 0 Cytoplasmic vesicle;Early endosome membrane NA PE1 7 +NX_Q9Y5X3 404 46816 6.31 0 Endosome;Phagocytic cup;Ruffle;Cytoplasm;Early endosome membrane;Cell membrane;Early endosome;Cytoplasmic vesicle membrane NA PE1 20 +NX_Q9Y5X4 410 44692 8.17 0 Nucleus Retinitis pigmentosa 37;Enhanced S cone syndrome PE1 15 +NX_Q9Y5X5 522 60270 9.43 7 Cytoskeleton;Cell membrane NA PE1 4 +NX_Q9Y5X9 500 56795 8.13 0 Secreted NA PE1 18 +NX_Q9Y5Y0 555 59863 5.72 12 Cell membrane;Mitochondrion membrane;Cell junction Posterior column ataxia with retinitis pigmentosa PE1 1 +NX_Q9Y5Y2 271 28825 5.55 0 Cytosol;Cytoplasm;Microtubule organizing center;Centriole;Nucleus;Cilium axoneme;Centrosome NA PE1 16 +NX_Q9Y5Y3 372 41967 9.45 7 Cell membrane NA PE2 2 +NX_Q9Y5Y4 395 43268 10.52 7 Cell membrane NA PE1 11 +NX_Q9Y5Y5 336 38629 9.85 2 Peroxisome membrane Peroxisome biogenesis disorder 8B;Peroxisome biogenesis disorder 8A;Peroxisome biogenesis disorder complementation group 9 PE1 11 +NX_Q9Y5Y6 855 94770 6.11 1 Cytoplasmic vesicle;Nucleoplasm;Membrane Ichthyosis, congenital, autosomal recessive 11 PE1 11 +NX_Q9Y5Y7 322 35213 8.59 1 Membrane NA PE1 11 +NX_Q9Y5Y9 1956 220626 5.67 24 Cell membrane Episodic pain syndrome, familial, 2 PE1 3 +NX_Q9Y5Z0 518 56180 5.05 1 Cell membrane;Endosome;Endoplasmic reticulum;Golgi apparatus NA PE1 21 +NX_Q9Y5Z4 205 22875 4.58 0 Mitochondrion;Cytoplasm NA PE1 6 +NX_Q9Y5Z6 326 37993 9.38 1 Golgi apparatus membrane NA PE1 2 +NX_Q9Y5Z7 792 86779 8.75 0 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA PE1 12 +NX_Q9Y5Z9 338 36831 8.4 8 Endoplasmic reticulum membrane;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus membrane;Nucleus;Mitochondrion membrane Corneal dystrophy, Schnyder type PE1 1 +NX_Q9Y600 493 55023 6.06 0 NA NA PE1 12 +NX_Q9Y603 341 38998 8.27 0 Nucleoplasm;Nucleus NA PE1 6 +NX_Q9Y605 127 14650 4.69 0 Perinuclear region;Nucleus NA PE1 4 +NX_Q9Y606 427 47470 8.69 0 Mitochondrion;Nucleus Myopathy with lactic acidosis and sideroblastic anemia 1 PE1 12 +NX_Q9Y608 721 82171 6.5 0 Cytoskeleton;Cell membrane NA PE1 3 +NX_Q9Y613 1164 126551 6.01 0 Cytosol;Cytoplasm;Cytoskeleton;Bleb NA PE1 16 +NX_Q9Y614 415 45234 5.32 0 Cytoskeleton NA PE1 9 +NX_Q9Y615 435 48644 6.64 0 Cytoplasm;Cytoskeleton;Nucleus;Golgi apparatus NA PE1 9 +NX_Q9Y616 596 67767 6.25 0 Cytoplasmic vesicle Asthma-related traits 5 PE1 12 +NX_Q9Y617 370 40423 7.56 0 Cytosol Neu-Laxova syndrome 2;Phosphoserine aminotransferase deficiency PE1 9 +NX_Q9Y618 2514 273657 7.21 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q9Y619 301 32736 9.28 6 Mitochondrion inner membrane Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome PE1 13 +NX_Q9Y620 910 102967 8.44 0 Nucleus NA PE1 8 +NX_Q9Y623 1939 223071 5.65 0 Myofibril NA PE1 17 +NX_Q9Y624 299 32583 8.09 1 Tight junction;Cytoskeleton;Cell junction;Cell membrane NA PE1 1 +NX_Q9Y625 555 62736 5.29 0 Cytoplasmic vesicle;Extracellular space;Cell membrane;Golgi apparatus Omodysplasia 1 PE1 13 +NX_Q9Y639 398 44387 8.11 1 Mitochondrion;Cytoskeleton;Cell membrane NA PE1 15 +NX_Q9Y644 331 36424 9.3 1 Golgi apparatus membrane;Nucleus NA PE1 17 +NX_Q9Y646 472 51888 5.79 0 Cytoplasmic vesicle;Secreted;Endoplasmic reticulum;Golgi apparatus;Lysosome NA PE1 8 +NX_Q9Y651 276 28580 9.74 0 Nucleus NA PE1 13 +NX_Q9Y653 693 77738 8.79 7 Membrane raft;Cell membrane;Secreted Polymicrogyria, bilateral frontoparietal;Polymicrogyria, bilateral perisylvian, autosomal recessive PE1 16 +NX_Q9Y657 262 29601 6.46 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 9 +NX_Q9Y661 456 49799 8.82 1 Golgi apparatus membrane NA PE2 16 +NX_Q9Y662 390 43324 9.67 1 Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 17 +NX_Q9Y663 406 44900 9.54 1 Cytoskeleton;Golgi apparatus membrane NA PE1 17 +NX_Q9Y664 436 48080 5.12 0 Lysosome membrane;Nucleoplasm;Stereocilium;Cell membrane;Cytosol;Lamellipodium Mental retardation, autosomal recessive 41 PE1 19 +NX_Q9Y666 1083 119106 6.28 12 Cytosol;Cell membrane NA PE1 5 +NX_Q9Y672 507 58121 8.8 11 Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1C PE1 1 +NX_Q9Y673 324 36946 9.34 1 Endoplasmic reticulum membrane;Cytosol NA PE1 13 +NX_Q9Y675 71 8412 10.58 0 Nucleus NA PE1 15 +NX_Q9Y676 258 29396 9.47 0 Mitochondrion;Cytoplasm;Cell junction NA PE1 6 +NX_Q9Y678 874 97718 5.32 0 Nucleoplasm;Golgi apparatus;COPI-coated vesicle membrane;Cytoplasm;Cytosol;Golgi apparatus membrane NA PE1 3 +NX_Q9Y679 410 45787 8.96 1 Nucleoplasm;Cytoplasmic vesicle;Endoplasmic reticulum membrane NA PE1 2 +NX_Q9Y680 222 25794 5.92 0 Endoplasmic reticulum lumen;Endoplasmic reticulum NA PE1 2 +NX_Q9Y689 179 20728 6.3 0 NA NA PE1 2 +NX_Q9Y691 235 27130 8.71 2 Membrane NA PE1 3 +NX_Q9Y692 573 62591 4.76 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q9Y693 200 21598 7.87 3 Nucleolus;Membrane NA PE1 13 +NX_Q9Y694 548 60026 6.57 12 Basolateral cell membrane NA PE1 6 +NX_Q9Y696 253 28772 5.45 1 Cytosol;Cytoplasm;Cell membrane;Centrosome;Nucleus;Mitochondrion;Nucleus matrix;Cytoplasmic vesicle membrane;Cell junction NA PE1 1 +NX_Q9Y697 457 50196 8.54 0 Mitochondrion;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA PE1 20 +NX_Q9Y698 323 35966 9.13 4 Synaptosome;Membrane Mental retardation, autosomal dominant 10 PE1 22 +NX_Q9Y6A1 747 84881 8.69 12 Endoplasmic reticulum membrane;Golgi apparatus Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1;Muscular dystrophy-dystroglycanopathy limb-girdle C1;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 PE1 9 +NX_Q9Y6A2 500 56821 9.15 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 14 +NX_Q9Y6A4 193 22774 9.78 0 Centriole;Nucleus;Cilium;Cilium basal body NA PE1 16 +NX_Q9Y6A5 838 90360 4.97 0 Cytosol;Cytoplasm;Spindle pole;Microtubule organizing center;Cytoplasmic vesicle;Spindle;Centrosome NA PE1 4 +NX_Q9Y6A9 102 11805 9.34 2 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum;Cell membrane NA PE1 3 +NX_Q9Y6B2 187 20876 3.89 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 15 +NX_Q9Y6B6 198 22410 5.76 0 Endoplasmic reticulum membrane;Golgi stack membrane Chylomicron retention disease PE1 5 +NX_Q9Y6B7 739 83260 5.59 0 Cytoplasmic vesicle;trans-Golgi network membrane Spastic paraplegia 47, autosomal recessive PE1 1 +NX_Q9Y6C2 1016 106695 5.1 0 Extracellular matrix NA PE1 2 +NX_Q9Y6C5 1203 130544 6 12 Membrane Medulloblastoma;Basal cell carcinoma PE2 1 +NX_Q9Y6C7 94 11024 10.19 0 NA NA PE5 3 +NX_Q9Y6C9 303 33331 8.25 3 Mitochondrion;Mitochondrion inner membrane NA PE1 11 +NX_Q9Y6D0 94 10645 10.86 1 Endoplasmic reticulum membrane;Cytosol;Cell membrane;Nucleoplasm NA PE1 3 +NX_Q9Y6D5 1785 202038 5.93 0 Synapse;Golgi apparatus;Cytoplasm;Endosome;Cytoplasmic vesicle;Dendrite;Perinuclear region;trans-Golgi network;Membrane;Cytoskeleton;Centrosome Periventricular nodular heterotopia 2 PE1 20 +NX_Q9Y6D6 1849 208767 5.58 0 Nucleolus;Golgi apparatus;Cytosol;Cytoplasm;Nucleoplasm;Perinuclear region;Nucleus;trans-Golgi network;Membrane;Nucleus matrix NA PE1 8 +NX_Q9Y6D9 718 83067 5.72 0 Kinetochore;Nucleus membrane;Nucleoplasm;Nucleus envelope;Spindle pole;Nucleus;Spindle;Centrosome NA PE1 7 +NX_Q9Y6E0 443 49308 5.49 0 Cytosol;Cytoplasm;Nucleolus;Nucleus;Membrane NA PE1 13 +NX_Q9Y6E2 419 48162 6.26 0 Cytosol;Cytoskeleton;Cell membrane NA PE1 7 +NX_Q9Y6E7 314 35188 9.04 0 Mitochondrion matrix NA PE1 12 +NX_Q9Y6F1 533 60089 6.34 0 Centriole;Nucleus;Centrosome NA PE1 3 +NX_Q9Y6F6 904 97930 5.48 1 Cytosol;Perinuclear region;Sarcoplasmic reticulum;Nucleus;Membrane NA PE1 11 +NX_Q9Y6F7 541 60524 9.14 0 Nucleus NA PE1 Y +NX_Q9Y6F8 540 60473 9.21 0 Nucleus NA PE1 Y +NX_Q9Y6F9 365 39721 9.22 0 Extracellular matrix NA PE1 2 +NX_Q9Y6G1 99 10712 10.55 3 Endoplasmic reticulum membrane;Nucleoplasm;Endoplasmic reticulum;Mitochondrion membrane NA PE1 6 +NX_Q9Y6G3 142 16661 8.58 0 Mitochondrion;Cell membrane NA PE1 12 +NX_Q9Y6G5 202 22966 6.09 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 5 +NX_Q9Y6G9 523 56579 6.01 0 Cytosol;Cytoplasm;Kinetochore;Spindle pole;Centrosome NA PE1 3 +NX_Q9Y6H1 151 15513 9.43 0 Mitochondrion;Nucleus;Mitochondrion intermembrane space Parkinson disease 22 PE1 7 +NX_Q9Y6H3 246 28081 8.3 0 Cytosol;Cytoplasmic vesicle;Cell junction;Cell membrane NA PE1 12 +NX_Q9Y6H5 919 100409 5.96 0 Nucleoplasm;Cytosol;Cytoplasm Parkinson disease PE1 5 +NX_Q9Y6H6 103 11710 8.82 1 Cytoplasm;Perikaryon;Membrane raft;Cell membrane;Dendrite NA PE1 11 +NX_Q9Y6H8 435 47410 6.15 4 Gap junction;Cell membrane Cataract 14, multiple types PE1 13 +NX_Q9Y6I0 156 16972 5.86 0 NA NA PE3 7 +NX_Q9Y6I3 576 60293 4.72 0 Cytosol;Clathrin-coated pit;Nucleus;Cell membrane;Cytoplasm NA PE1 19 +NX_Q9Y6I4 520 58897 8.54 0 Nucleoplasm;Nucleus NA PE1 15 +NX_Q9Y6I7 421 47432 7.63 0 Mitochondrion;Cytoplasm;Nucleus NA PE1 17 +NX_Q9Y6I8 212 24264 10.07 2 Peroxisome membrane;Nucleolus;Peroxisome NA PE1 20 +NX_Q9Y6I9 313 34189 4.79 0 Cytosol;Nucleolus;Secreted NA PE1 3 +NX_Q9Y6J0 2220 246352 5.7 0 Cytosol;Nucleoplasm;Nucleus NA PE1 22 +NX_Q9Y6J3 95 10312 9.43 0 NA NA PE2 5 +NX_Q9Y6J6 123 14472 5.57 1 Cell membrane Long QT syndrome 6;Atrial fibrillation, familial, 4 PE1 21 +NX_Q9Y6J8 313 35818 5.73 0 Mitochondrion matrix;Nucleus speckle NA PE1 7 +NX_Q9Y6J9 622 67814 9.14 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q9Y6K0 416 46554 8.55 8 Endoplasmic reticulum membrane;Nucleus membrane NA PE1 1 +NX_Q9Y6K1 912 101858 6.19 0 Nucleoplasm;Cytoplasm;Nucleus Tatton-Brown-Rahman syndrome PE1 2 +NX_Q9Y6K5 1087 121170 8.73 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Cell membrane NA PE1 12 +NX_Q9Y6K8 562 63333 4.96 0 Cytosol;Cytoplasm;Microtubule organizing center NA PE1 1 +NX_Q9Y6K9 419 48198 5.56 0 Cytosol;Cytoplasm;Nucleus Incontinentia pigmenti;Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema;Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked;Recurrent isolated invasive pneumococcal disease 2;Immunodeficiency 33;Immunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia PE1 X +NX_Q9Y6L6 691 76449 8.85 12 Basolateral cell membrane Hyperbilirubinemia, Rotor type PE1 12 +NX_Q9Y6L7 1015 113557 5.6 0 Secreted NA PE1 10 +NX_Q9Y6M0 314 34884 7.56 0 Cytosol;Cell membrane NA PE1 16 +NX_Q9Y6M1 599 66121 8.48 0 Cytosol;Cytoplasm;Nucleus NA PE1 3 +NX_Q9Y6M4 447 51389 9.29 0 Cytoplasm NA PE1 5 +NX_Q9Y6M5 507 55300 6.02 6 Cytoplasmic vesicle;Cell membrane NA PE1 1 +NX_Q9Y6M7 1214 136044 6.26 11 Apical cell membrane;Basolateral cell membrane;Cytosol;Stereocilium;Cell membrane;Focal adhesion NA PE1 3 +NX_Q9Y6M9 179 21831 8.57 0 Mitochondrion;Mitochondrion inner membrane NA PE1 8 +NX_Q9Y6N1 276 31430 9.22 1 Mitochondrion inner membrane NA PE1 17 +NX_Q9Y6N3 262 29971 8.42 0 Secreted NA PE1 1 +NX_Q9Y6N5 450 49961 9.18 0 Mitochondrion NA PE1 15 +NX_Q9Y6N6 1575 171227 6.14 0 Basement membrane Cortical malformations occipital PE1 9 +NX_Q9Y6N7 1651 180930 5.7 1 Axon;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cell membrane NA PE1 3 +NX_Q9Y6N8 788 88451 4.83 1 Cell membrane NA PE1 5 +NX_Q9Y6N9 552 62211 5.36 0 Cytosol;Microvillus;Cytoskeleton Deafness, autosomal recessive, 18A;Usher syndrome 1C PE1 11 +NX_Q9Y6P5 492 56557 5.68 0 Cytoplasm;Nucleolus;Nucleus NA PE1 6 +NX_Q9Y6Q1 641 74576 6.62 0 Cytosol;Perinuclear region;Spindle NA PE1 X +NX_Q9Y6Q2 735 83141 5.82 0 Cytoplasm;Membrane NA PE1 2 +NX_Q9Y6Q3 630 71209 9.26 0 Cytoplasmic vesicle;Nucleus NA PE1 9 +NX_Q9Y6Q5 423 48108 8.23 0 Cytoplasmic vesicle;Clathrin-coated vesicle membrane;Golgi apparatus NA PE1 19 +NX_Q9Y6Q6 616 66034 5.21 1 Cytosol;Cell membrane Paget disease of bone 2, early-onset;Osteopetrosis, autosomal recessive 7;Familial expansile osteolysis PE1 18 +NX_Q9Y6Q9 1424 155293 7.16 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 20 +NX_Q9Y6R0 609 64891 9.1 0 Cytoplasm NA PE1 19 +NX_Q9Y6R1 1079 121461 6.35 12 Basolateral cell membrane Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation PE1 4 +NX_Q9Y6R4 1608 181685 5.94 0 Cytosol;Perinuclear region NA PE1 6 +NX_Q9Y6R6 833 96807 9.17 0 Nucleus NA PE1 19 +NX_Q9Y6R7 5405 572017 5.14 0 Cytoskeleton;Golgi apparatus;Cell membrane;Secreted NA PE1 19 +NX_Q9Y6R9 512 57368 10.27 0 Nucleus NA PE1 19 +NX_Q9Y6S9 549 60036 7.06 0 Nucleoplasm NA PE1 14 +NX_Q9Y6T7 804 90595 8.11 0 Cytoplasm NA PE1 7 +NX_Q9Y6U3 715 80489 5.5 0 Cytoskeleton;Podosome;Cell membrane NA PE1 7 +NX_Q9Y6U7 377 41101 8.98 2 Cytoskeleton;Nucleolus;Membrane NA PE2 22 +NX_Q9Y6V0 5142 560699 6.07 0 Nucleus speckle;Synapse;Cell membrane Pontocerebellar hypoplasia 3 PE1 7 +NX_Q9Y6V7 483 54226 9.21 0 Mitochondrion;Nucleolus NA PE1 19 +NX_Q9Y6W3 813 92652 7.55 0 Nucleus NA PE1 3 +NX_Q9Y6W5 498 54284 5.38 0 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane;Lamellipodium NA PE1 1 +NX_Q9Y6W6 482 52642 7.87 0 Cytosol;Nucleoplasm;Nucleus;Golgi apparatus;Cytoplasm NA PE1 1 +NX_Q9Y6W8 199 22625 9.01 1 Cell membrane;Secreted Immunodeficiency, common variable, 1 PE1 2 +NX_Q9Y6X0 1596 175008 9.76 0 Cytosol;Nucleus Schinzel-Giedion midface retraction syndrome;Leukemia, acute myelogenous;Leukemia, juvenile myelomonocytic;Myelodysplastic syndrome;Mental retardation, autosomal dominant 29;Leukemia, chronic myeloid, atypical PE1 18 +NX_Q9Y6X1 66 7374 11.01 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cell membrane;Membrane NA PE1 3 +NX_Q9Y6X2 628 68017 7.81 0 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA PE1 1 +NX_Q9Y6X3 613 69082 6.84 0 Nucleoplasm;Nucleus;Chromosome NA PE1 19 +NX_Q9Y6X4 670 74955 4.52 0 Cytosol;Nucleus inner membrane;Nucleus envelope;Nucleus membrane NA PE1 5 +NX_Q9Y6X5 453 51641 5.71 1 Cell membrane NA PE1 6 +NX_Q9Y6X6 1858 206129 6.37 0 Cytoplasmic vesicle;Cytoplasm NA PE1 13 +NX_Q9Y6X8 837 92307 6.42 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q9Y6X9 1032 117823 8.6 0 Cytosol;Nucleus Charcot-Marie-Tooth disease 2Z PE1 22 +NX_Q9Y6Y0 642 71729 5.33 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Cytosol NA PE1 1 +NX_Q9Y6Y1 1673 183672 7.29 0 Cytosol;Cytoplasm;Nucleolus;Nucleus Cerebellar ataxia, non-progressive, with mental retardation PE1 1 +NX_Q9Y6Y8 1000 111076 5.35 0 Cytoplasmic vesicle;COPII-coated vesicle membrane;Endoplasmic reticulum NA PE1 10 +NX_Q9Y6Y9 160 18546 8.8 0 Cytoplasmic vesicle;Extracellular space;Secreted NA PE1 8 +NX_Q9Y6Z2 57 6189 5.98 0 NA NA PE4 6 +NX_Q9Y6Z4 181 19411 9.48 0 NA NA PE5 6 +NX_Q9Y6Z5 254 26128 11.81 0 NA NA PE5 6 +NX_Q9Y6Z7 277 30705 6.96 0 Cytoplasm;Golgi apparatus;Secreted 3MC syndrome 3 PE1 8 +NX_Q9YNA8 666 74183 9.05 0 Cell membrane NA PE1 19 +NX_S4R3P1 24 2751 5.87 0 Cytoplasm;Secreted NA PE3 4 +NX_S4R3Y5 24 2737 7.98 0 Cytoplasm;Secreted NA PE2 1 +NX_U3KPV4 340 38754 9.39 1 Golgi stack membrane NA PE2 1 +NX_W5XKT8 324 36333 6.15 1 Membrane NA PE1 19 +NX_W6CW81 113 12732 5.57 0 NA NA PE1 1
--- a/tool-data/nextprot_ref_08-10-2018.tsv Fri Jan 24 05:04:15 2020 -0500 +++ b/tool-data/nextprot_ref_08-10-2018.tsv Thu Aug 20 03:09:52 2020 -0400 @@ -1,20231 +1,20231 @@ -NextprotID MW SeqLength IsoPoint Chr SubcellLocations Diseases TMDomains ProteinExistence -NX_Q7RTS7 57865 529 7.59 12 NA Ectodermal dysplasia 7, hair/nail type;Woolly hair autosomal dominant;Hypotrichosis 3 0 PE1 -NX_Q7RTS9 75935 669 5.56 18 Golgi apparatus;Cytoplasm;Golgi apparatus;Membrane Smith-McCort dysplasia 1;Dyggve-Melchior-Clausen syndrome 0 PE1 -NX_Q7RTT3 21553 188 9.19 X NA NA 0 PE2 -NX_Q7RTT4 21859 187 9.46 X NA NA 0 PE2 -NX_Q7RTT5 21591 188 9.19 X NA NA 0 PE2 -NX_Q7RTT6 21688 188 9.32 X NA NA 0 PE5 -NX_Q7RTT9 58059 530 7.64 7 Cytoskeleton;Cytoskeleton;Apical cell membrane;Cell membrane NA 10 PE1 -NX_Q7RTU0 17516 167 10.24 8 Nucleus NA 0 PE3 -NX_Q7RTU1 23309 214 11.33 2 Nucleus NA 0 PE2 -NX_Q7RTU3 29358 272 9.54 6 Nucleus NA 0 PE1 -NX_Q7RTU4 24132 235 11.21 17 Nucleus;Cytoplasm Camptosynpolydactyly, complex;Syndactyly, mesoaxial synostotic, with phalangeal reduction;Split-hand/foot malformation with long bone deficiency 3 0 PE1 -NX_Q7RTU5 29462 278 8.71 1 Nucleus NA 0 PE3 -NX_Q7RTU7 21596 201 10.17 8 Nucleus NA 0 PE3 -NX_Q7RTU9 192967 1775 5.27 15 Kinocilium;Stereocilium;Cell surface Deafness, autosomal recessive, 16;Deafness-infertility syndrome 0 PE2 -NX_Q7RTV0 12405 110 8.79 22 Nucleoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q7RTV2 25722 222 7.74 6 Cytoplasm NA 0 PE1 -NX_Q7RTV3 38411 350 8.07 9 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q7RTV5 24857 226 9.07 9 NA NA 0 PE1 -NX_Q7RTW8 128533 1153 5.53 16 Extracellular matrix;Apical cell membrane Deafness, autosomal recessive, 22 0 PE1 -NX_Q7RTX0 93386 852 6.75 1 Cell membrane NA 7 PE1 -NX_Q7RTX1 93074 841 8.32 1 Cell membrane NA 7 PE2 -NX_Q7RTX7 54092 472 5.15 1 Flagellum membrane NA 6 PE1 -NX_Q7RTX9 56254 510 6.45 2 Cytosol;Cell membrane NA 12 PE2 -NX_Q7RTY0 44992 426 6.44 17 Golgi apparatus;Golgi apparatus membrane;Cell membrane Diabetes mellitus, non-insulin-dependent 12 PE1 -NX_Q7RTY1 55794 509 8.25 10 Cell membrane;Cell junction;Nucleus NA 12 PE1 -NX_Q7RTY3 29329 260 8.42 3 NA NA 0 PE2 -NX_Q7RTY5 35970 328 7.49 4 Secreted NA 0 PE2 -NX_Q7RTY7 125066 1134 8.67 12 Secreted NA 0 PE1 -NX_Q7RTY8 94415 843 8.84 3 Cell membrane NA 1 PE2 -NX_Q7RTY9 35078 318 9.36 16 Cell membrane NA 0 PE1 -NX_Q7RTZ1 62642 564 7.22 11 Secreted NA 0 PE1 -NX_Q7RTZ2 59590 530 7.81 8 Endoplasmic reticulum;Nucleus NA 0 PE3 -NX_Q7Z2D5 82983 763 9 1 Membrane NA 6 PE1 -NX_Q7Z2E3 40740 356 9.27 9 Cytoplasm;Nucleolus;Nucleus;Nucleoplasm;Nucleolus Ataxia-oculomotor apraxia syndrome 0 PE1 -NX_Q7Z2F6 14454 126 4.9 16 Nucleoplasm;Cytosol NA 0 PE2 -NX_Q7Z2G1 19618 175 10.69 X Nucleus membrane;Chromosome NA 0 PE1 -NX_Q7Z2H8 53076 476 6.54 5 Endoplasmic reticulum;Cell membrane;Lysosome membrane NA 11 PE1 -NX_Q7Z2K6 100231 904 7.2 9 Nucleus;Nucleolus;Endoplasmic reticulum membrane NA 9 PE1 -NX_Q7Z2K8 102399 1008 8.33 5 Cell membrane;Cytoplasmic vesicle;Cell membrane;Growth cone NA 0 PE1 -NX_Q7Z2Q7 70301 622 9.02 5 Membrane NA 1 PE2 -NX_Q7Z2R9 10995 100 12.15 1 Secreted NA 0 PE5 -NX_Q7Z2T5 81747 733 8.11 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q7Z2V1 23111 217 6.41 16 NA NA 0 PE1 -NX_Q7Z2W4 101431 902 8.72 7 Cytosol;Nucleus;Golgi apparatus;Cytoplasm NA 0 PE1 -NX_Q7Z2W7 127685 1104 6.91 2 Cell membrane;Membrane raft;Endoplasmic reticulum membrane NA 6 PE1 -NX_Q7Z2W9 22815 205 9.91 11 Nucleoplasm;Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q7Z2X4 28272 250 6.53 2 Endoplasmic reticulum;Cytoplasm NA 0 PE1 -NX_Q7Z2X7 12090 111 4 X NA NA 0 PE1 -NX_Q7Z2Y5 178479 1582 5.93 X Cytoplasm;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q7Z2Y8 279048 2422 6.12 11 Cytosol;Nucleus NA 0 PE2 -NX_Q7Z2Z1 210857 1910 9 15 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q7Z2Z2 125430 1120 5.66 15 Cytosol NA 0 PE1 -NX_Q7Z304 77556 686 5.05 9 Endoplasmic reticulum;Extracellular matrix NA 0 PE1 -NX_Q7Z309 26928 247 5.98 X Nucleus;Nucleoplasm NA 0 PE1 -NX_Q7Z333 302880 2677 6.83 9 Cytoskeleton;Nucleus;Nucleolus;Nucleus;Nucleoplasm;Cytoplasm;Chromosome;Telomere;Axon;Growth cone Spinocerebellar ataxia, autosomal recessive, 1;Amyotrophic lateral sclerosis 4 0 PE1 -NX_Q7Z340 77515 670 8.73 19 Nucleus speckle;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q7Z353 77206 690 5.61 X Nucleus;Cytosol NA 0 PE1 -NX_Q7Z388 83756 723 8.41 8 Endoplasmic reticulum;Cytoplasmic vesicle;Membrane NA 12 PE1 -NX_Q7Z392 128881 1133 6.72 4 Nucleus membrane;Nucleoplasm;cis-Golgi network;Golgi apparatus Limb-girdle muscular dystrophy 2S 0 PE1 -NX_Q7Z398 48381 422 8.95 19 Cytoskeleton;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q7Z3B0 8625 74 9.82 5 Membrane NA 1 PE1 -NX_Q7Z3B1 38719 354 5.84 1 Cytosol;Cytoplasmic vesicle;Cell membrane;Cytoskeleton NA 0 PE1 -NX_Q7Z3B3 121025 1105 9 17 Nucleus;Nucleus;Nucleoplasm;Kinetochore NA 0 PE1 -NX_Q7Z3B4 55435 507 6.53 4 Nucleoplasm;Nuclear pore complex;Nucleus membrane;Nucleus membrane NA 0 PE1 -NX_Q7Z3C6 94447 839 6.19 2 Endoplasmic reticulum;Cytoplasmic vesicle;Autophagosome membrane;Late endosome membrane;trans-Golgi network membrane;Endoplasmic reticulum membrane NA 6 PE1 -NX_Q7Z3D4 34538 306 5.62 5 Membrane;Cytosol NA 1 PE1 -NX_Q7Z3D6 66437 616 6.32 14 Mitochondrion;Cytosol;Mitochondrion matrix NA 0 PE1 -NX_Q7Z3E1 76227 657 6.19 3 Nucleus;Cytoskeleton;Microtubule organizing center;Nucleoplasm NA 0 PE1 -NX_Q7Z3E2 103687 898 5.94 10 Golgi apparatus NA 0 PE1 -NX_Q7Z3E5 91762 817 5.83 2 Cytoplasm;Nucleolus;Cytosol NA 0 PE1 -NX_Q7Z3F1 96919 870 6.42 2 Endosome;Cytosol;Membrane;Nucleus NA 17 PE1 -NX_Q7Z3G6 95615 844 7.12 3 Cytoplasmic vesicle;Golgi apparatus;Nucleus membrane NA 0 PE1 -NX_Q7Z3H0 29011 272 5.63 12 NA NA 0 PE2 -NX_Q7Z3H4 49112 446 6.32 3 Nucleus;Cytoplasm NA 0 PE1 -NX_Q7Z3I7 61238 529 8.32 8 Nucleus;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q7Z3J2 109563 963 6.82 16 Nucleus;Cytoplasm;Early endosome;Membrane;Mitochondrion NA 1 PE1 -NX_Q7Z3J3 197289 1758 5.9 2 NA NA 0 PE1 -NX_Q7Z3K3 155344 1410 7.14 1 Nucleus;Cytoplasm;Chromosome;Nucleus;Nucleoplasm;Cytoplasm White-Sutton syndrome 0 PE1 -NX_Q7Z3K6 61437 550 4.42 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q7Z3Q1 51519 461 5.56 13 Endosome;Cytosol;Cytoskeleton;Cell membrane;Membrane NA 11 PE1 -NX_Q7Z3S7 127938 1137 5.18 12 Membrane Retinal cone dystrophy 4 1 PE1 -NX_Q7Z3S9 25835 236 5.44 1 Secreted;Cytoplasm NA 0 PE1 -NX_Q7Z3T1 34789 314 8.92 1 Cell membrane NA 7 PE2 -NX_Q7Z3T8 168903 1539 4.67 5 Cytosol;Cytoplasm;Cytoplasmic vesicle;Early endosome membrane NA 0 PE1 -NX_Q7Z3U7 190359 1717 5.72 12 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q7Z3V4 123098 1068 8.51 12 Nucleus speckle;Mitochondrion Kaufman oculocerebrofacial syndrome 0 PE1 -NX_Q7Z3V5 70792 609 8.71 19 Nucleus;Cell membrane;Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q7Z3Y7 50567 464 5.33 17 Cytoplasm NA 0 PE1 -NX_Q7Z3Y8 49822 459 4.98 17 Cytoplasm NA 0 PE1 -NX_Q7Z3Y9 51911 468 4.86 17 NA NA 0 PE1 -NX_Q7Z3Z0 49318 450 5 17 Cytoplasm Woolly hair autosomal recessive 3 0 PE1 -NX_Q7Z3Z2 22704 195 7.73 1 NA Leber congenital amaurosis 12 0 PE1 -NX_Q7Z3Z3 101089 882 9.56 22 Cytoplasm NA 0 PE1 -NX_Q7Z3Z4 96589 852 9.09 11 Nucleus;Cytoplasm NA 0 PE1 -NX_Q7Z401 209244 1863 7.07 15 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q7Z402 83502 723 8.74 16 Membrane;Cytoplasmic vesicle NA 9 PE1 -NX_Q7Z403 90045 805 8.98 17 Endoplasmic reticulum membrane Epidermodysplasia verruciformis 10 PE1 -NX_Q7Z404 79208 712 9.16 19 Membrane NA 9 PE1 -NX_Q7Z406 227871 1995 5.52 19 Nucleoplasm Deafness, autosomal dominant, 4A;Peripheral neuropathy, myopathy, hoarseness, and hearing loss 0 PE1 -NX_Q7Z407 406000 3707 5.63 8 Cell membrane NA 2 PE1 -NX_Q7Z408 380039 3487 5.69 1 Cell membrane NA 1 PE1 -NX_Q7Z410 114021 1059 8.46 19 Cell membrane NA 1 PE1 -NX_Q7Z412 33898 305 5.94 22 Peroxisome membrane Peroxisome biogenesis disorder 7A;Peroxisome biogenesis disorder complementation group 8;Peroxisome biogenesis disorder 7B 1 PE1 -NX_Q7Z417 76121 695 8.7 17 Cytosol;Nucleus;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q7Z418 43671 384 6.6 10 Cell membrane Migraine with or without aura 13 4 PE1 -NX_Q7Z419 33697 303 7.62 6 Mitochondrion;Nucleolus;Mitochondrion membrane;Cytoplasm NA 1 PE1 -NX_Q7Z422 16997 152 8.92 1 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q7Z429 41203 371 5.21 8 Nucleolus;Cytosol;Membrane NA 7 PE1 -NX_Q7Z434 56528 540 5.36 20 Mitochondrion outer membrane;Mitochondrion;Peroxisome;Mitochondrion NA 1 PE1 -NX_Q7Z442 272575 2459 5.54 16 Membrane NA 12 PE1 -NX_Q7Z443 195894 1732 8.78 16 Cell membrane NA 12 PE1 -NX_Q7Z444 25287 233 6.1 X Cell membrane NA 0 PE2 -NX_Q7Z449 61987 544 8.63 4 Golgi apparatus;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Microsome membrane;Nucleoplasm Spastic paraplegia 56, autosomal recessive 5 PE1 -NX_Q7Z460 169451 1538 9.14 2 trans-Golgi network;Centrosome;Kinetochore;Cytoskeleton;Spindle NA 0 PE1 -NX_Q7Z465 39713 357 5.26 1 NA NA 0 PE1 -NX_Q7Z478 155236 1369 8.3 5 Cytosol;Cytoplasm NA 0 PE1 -NX_Q7Z494 150864 1330 6.31 3 Cilium Meckel syndrome 7;Renal-hepatic-pancreatic dysplasia 1;Nephronophthisis 3 0 PE1 -NX_Q7Z4B0 12600 112 9.98 18 Secreted NA 0 PE5 -NX_Q7Z4F1 76193 713 5.3 14 Membrane;Coated pit;Nucleus;Nucleolus NA 1 PE1 -NX_Q7Z4G1 9638 85 5.69 13 Cytoplasm;Nucleus NA 0 PE1 -NX_Q7Z4G4 53421 463 7.65 6 Nucleus NA 0 PE1 -NX_Q7Z4H3 23390 204 5.33 6 Nucleolus;Nucleus NA 0 PE1 -NX_Q7Z4H4 15865 148 11.81 22 Secreted NA 0 PE2 -NX_Q7Z4H7 108621 955 6.04 9 Cytosol;Microtubule organizing center;Nucleus speckle;Cytoskeleton;Spindle;Centrosome NA 0 PE1 -NX_Q7Z4H8 58572 507 8.42 11 Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum lumen NA 0 PE1 -NX_Q7Z4H9 28021 259 8.86 7 Cytoplasmic vesicle;Nucleus NA 0 PE2 -NX_Q7Z4I7 38916 341 8.44 2 Focal adhesion;Nucleus;Focal adhesion;Cell membrane Limb-girdle muscular dystrophy 2W 0 PE1 -NX_Q7Z4J2 36274 308 9.37 9 Membrane NA 1 PE2 -NX_Q7Z4K8 83424 759 7.99 1 Cytosol;Cytoskeleton;Axon;Cytoskeleton NA 0 PE1 -NX_Q7Z4L0 8129 72 12.08 14 Mitochondrion inner membrane NA 1 PE2 -NX_Q7Z4L5 150937 1316 6.53 2 Mitochondrion;Cilium axoneme Nephronophthisis 12;Joubert syndrome 11;Short-rib thoracic dysplasia 4 with or without polydactyly;Bardet-Biedl syndrome 0 PE1 -NX_Q7Z4L9 40902 355 6.81 8 Centrosome;Cytoskeleton NA 0 PE2 -NX_Q7Z4M0 29155 266 5.48 15 NA NA 0 PE1 -NX_Q7Z4N2 182178 1603 6.4 15 Cytosol;Cell membrane;Nucleoplasm Night blindness, congenital stationary, 1C 9 PE1 -NX_Q7Z4N8 61126 544 6.05 11 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q7Z4P5 46950 450 9.9 2 Secreted NA 0 PE1 -NX_Q7Z4Q2 74583 680 5.02 16 Cytosol;Nucleus NA 0 PE1 -NX_Q7Z4R8 20772 191 4.75 6 Secreted NA 0 PE1 -NX_Q7Z4S6 187179 1674 6.05 12 Cell membrane;Cytoskeleton;Cytosol Fibrosis of extraocular muscles, congenital, 1 0 PE1 -NX_Q7Z4S9 19279 175 9.18 2 NA NA 0 PE2 -NX_Q7Z4T8 51427 443 8.88 7 Late endosome membrane NA 1 PE2 -NX_Q7Z4T9 70999 603 7.34 3 Cytoplasm;Mitochondrion;Cilium axoneme NA 0 PE1 -NX_Q7Z4U5 16243 140 10.39 6 NA NA 0 PE2 -NX_Q7Z4V0 91836 828 9.49 10 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q7Z4V5 74317 671 7.11 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q7Z4W1 25913 244 8.33 17 Nucleolus;Cytoskeleton;Membrane Pentosuria 0 PE1 -NX_Q7Z4W2 16656 148 8.04 10 Secreted NA 0 PE1 -NX_Q7Z4W3 8247 81 8.57 21 NA NA 0 PE3 -NX_Q7Z4Y8 11037 100 9.91 22 Mitochondrion membrane NA 0 PE5 -NX_Q7Z553 107436 956 6.88 14 Cell membrane NA 0 PE1 -NX_Q7Z569 67305 592 5.64 12 Cytosol;Cytoplasm;Nucleus membrane NA 0 PE1 -NX_Q7Z570 136888 1209 8.19 2 Endoplasmic reticulum NA 0 PE2 -NX_Q7Z572 52207 469 6.74 1 Cytosol;Cytoplasmic vesicle NA 0 PE2 -NX_Q7Z589 141468 1322 9.37 11 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q7Z591 155139 1439 5.91 9 Centrosome;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q7Z5A4 32006 293 6.93 3 Secreted NA 0 PE1 -NX_Q7Z5A7 14301 132 9.32 22 Membrane;Secreted NA 1 PE1 -NX_Q7Z5A8 14776 133 8.71 1 Secreted NA 0 PE2 -NX_Q7Z5A9 14901 133 8.49 3 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_Q7Z5B4 41092 369 5.04 11 Endoplasmic reticulum membrane;Golgi apparatus membrane NA 1 PE1 -NX_Q7Z5D8 22750 188 9.73 12 Nucleus NA 0 PE2 -NX_Q7Z5G4 15824 137 6.6 8 Golgi apparatus membrane NA 0 PE1 -NX_Q7Z5H3 76779 698 8.4 10 Cell membrane;Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q7Z5H4 40779 357 9.35 1 Cell membrane NA 7 PE2 -NX_Q7Z5H5 33557 301 9.58 19 Cell membrane NA 7 PE2 -NX_Q7Z5J1 34288 315 9.76 19 Cytoplasmic vesicle;Secreted NA 0 PE2 -NX_Q7Z5J4 203352 1906 9.03 17 Nucleoplasm;Cytoplasm;Nucleus Smith-Magenis syndrome 0 PE1 -NX_Q7Z5J8 162026 1434 8.39 2 Nucleus;Microtubule organizing center;Membrane NA 1 PE1 -NX_Q7Z5K2 132946 1190 5.27 10 Nucleus;Cytoplasm;Chromosome NA 0 PE1 -NX_Q7Z5L0 21534 202 4.9 17 Secreted NA 0 PE1 -NX_Q7Z5L2 87884 792 5.01 10 Nucleus speckle;Nucleoplasm NA 0 PE1 -NX_Q7Z5L3 29468 287 5.5 2 Secreted NA 0 PE1 -NX_Q7Z5L4 19186 167 6.44 11 Mitochondrion outer membrane NA 0 PE1 -NX_Q7Z5L7 68976 613 6.51 1 Extracellular matrix;Cytoplasm NA 0 PE1 -NX_Q7Z5L9 61025 587 9 1 Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q7Z5M5 125685 1100 9.28 15 Membrane;Cytosol NA 10 PE2 -NX_Q7Z5M8 40776 362 8.57 14 Nucleus NA 0 PE2 -NX_Q7Z5N4 242112 2213 5.99 7 Cytosol;Cell membrane;Synapse NA 1 PE1 -NX_Q7Z5P4 33655 300 9.14 4 Secreted;Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q7Z5P9 805253 8384 4.97 12 Secreted NA 0 PE1 -NX_Q7Z5Q1 64944 589 6.78 4 Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_Q7Z5Q5 100307 900 8.57 4 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q7Z5R6 73183 666 5.39 10 Cytosol;Cell membrane;Cell membrane;Lamellipodium;Focal adhesion;Cytoskeleton NA 0 PE1 -NX_Q7Z5S9 37653 345 6.63 4 Mitochondrion;Membrane NA 10 PE2 -NX_Q7Z5U6 38989 358 6.07 3 Cell membrane;Cytosol NA 0 PE1 -NX_Q7Z5V6 47295 425 8.74 11 NA NA 0 PE1 -NX_Q7Z5W3 33200 292 6.22 12 Cytoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q7Z5Y6 44798 402 9.06 1 Secreted NA 0 PE2 -NX_Q7Z5Y7 47480 419 5.16 6 Nucleus speckle;Endoplasmic reticulum;Cytoplasm NA 0 PE1 -NX_Q7Z601 51106 462 9.52 17 Cell membrane;Cell junction;Cell membrane;Cytosol NA 7 PE2 -NX_Q7Z602 35464 305 9.41 7 Cell membrane NA 7 PE2 -NX_Q7Z614 36178 316 8.94 16 Early endosome membrane;Cell membrane;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q7Z624 36128 323 6.38 2 Nucleus;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q7Z628 67740 596 9.31 10 Cytoplasmic vesicle;Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q7Z692 32638 300 5.74 19 Mitochondrion;Membrane;Nucleus;Nucleolus NA 1 PE2 -NX_Q7Z695 68982 626 9.03 7 Centrosome;Membrane;Cytosol NA 1 PE1 -NX_Q7Z698 47558 418 6.32 2 Cytosol;Cell membrane;Cytoplasm;Nucleoplasm;Secretory vesicle membrane NA 0 PE1 -NX_Q7Z699 50477 444 6.12 15 Nucleus;Cell membrane;Caveola;Nucleus Neurofibromatosis 1-like syndrome 0 PE1 -NX_Q7Z6A9 32834 289 6.09 3 Membrane NA 1 PE1 -NX_Q7Z6B0 49971 441 5.03 12 trans-Golgi network;Golgi apparatus;Nucleoplasm;Membrane;trans-Golgi network membrane NA 0 PE1 -NX_Q7Z6B7 124264 1085 6.36 12 Nucleus speckle Thyroid cancer, non-medullary, 2 0 PE1 -NX_Q7Z6E9 201564 1792 9.65 16 Nucleolus;Nucleus speckle;Chromosome;Centrosome NA 0 PE1 -NX_Q7Z6G3 43194 386 5.33 16 Dendrite;Cytoplasm;Cytoplasmic vesicle;Cell membrane;Axon NA 0 PE1 -NX_Q7Z6G8 138066 1248 5.93 12 Cytoplasmic vesicle;Cell membrane;Cajal body;Cytoplasm;Cytosol;Nucleus;Postsynaptic density;Dendritic spine NA 0 PE1 -NX_Q7Z6I5 20418 190 5.23 3 Mitochondrion;Cell membrane;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q7Z6I6 118582 1101 4.75 1 Cytoplasmic vesicle;Cytoplasmic vesicle NA 0 PE1 -NX_Q7Z6I8 20132 188 9.87 5 Nucleus NA 0 PE1 -NX_Q7Z6J0 93129 888 8.85 4 trans-Golgi network;Cytoplasmic vesicle;Cytoskeleton;Perinuclear region;Cytoplasm;Lamellipodium NA 0 PE1 -NX_Q7Z6J2 42623 395 9.01 12 Cytoplasmic vesicle;Nucleus;Cell membrane;Postsynaptic cell membrane;Perinuclear region NA 0 PE1 -NX_Q7Z6J4 74892 655 6.51 6 Cytoskeleton;Cytoplasm;Nucleus;Early endosome;Early endosome membrane;Ruffle membrane NA 0 PE1 -NX_Q7Z6J6 65065 570 8.62 15 Membrane;Centrosome;Golgi apparatus;Adherens junction NA 1 PE1 -NX_Q7Z6J8 43657 389 8.51 6 Cytoplasm;Cytoplasm NA 0 PE1 -NX_Q7Z6J9 58819 526 8.04 17 Nucleus;Nucleolus Pontocerebellar hypoplasia 5;Pontocerebellar hypoplasia 2A;Pontocerebellar hypoplasia 4 0 PE1 -NX_Q7Z6K1 45416 395 6.26 7 Nucleus;Nucleus NA 0 PE1 -NX_Q7Z6K3 46405 402 6.5 9 Cytoplasm;Microtubule organizing center NA 0 PE1 -NX_Q7Z6K4 12492 114 6.82 9 Nucleoplasm;Cytosol NA 0 PE2 -NX_Q7Z6K5 24943 226 5.57 15 Lamellipodium NA 0 PE1 -NX_Q7Z6L0 34945 340 4.64 16 Cell membrane;Synapse;Cell membrane Seizures, benign familial infantile, 2;Episodic kinesigenic dyskinesia 1;Convulsions, familial infantile, with paroxysmal choreoathetosis 2 PE1 -NX_Q7Z6L1 129696 1165 5.83 7 Cytoplasmic vesicle;Lysosome membrane;Autophagosome membrane NA 0 PE1 -NX_Q7Z6M1 40565 372 5.8 9 Cell membrane;Cytoplasm;Endosome membrane NA 0 PE1 -NX_Q7Z6M2 62630 555 6.95 14 Nucleoplasm NA 0 PE1 -NX_Q7Z6M3 38735 343 7.91 17 Cell membrane NA 1 PE1 -NX_Q7Z6M4 43958 381 4.71 2 Cytosol;Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q7Z6P3 77638 723 4.83 6 Cell membrane NA 0 PE1 -NX_Q7Z6R9 49578 452 8.41 6 Nucleus NA 0 PE1 -NX_Q7Z6V5 21046 191 6.34 6 Cytosol;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q7Z6W1 20071 182 8.9 1 Membrane NA 1 PE1 -NX_Q7Z6W7 35434 309 5.34 22 NA NA 0 PE2 -NX_Q7Z6Z6 47912 429 6.31 22 NA NA 0 PE2 -NX_Q7Z6Z7 481891 4374 5.1 X Nucleoplasm;Cytosol;Cytoplasm;Nucleus Mental retardation, X-linked, syndromic, Turner type;Mental retardation, X-linked 17 0 PE1 -NX_Q7Z713 16872 158 5.75 4 Nucleus;Cytoplasm;Nucleus;Cytosol;Mitochondrion NA 0 PE2 -NX_Q7Z736 85317 793 8.07 17 Golgi apparatus NA 0 PE1 -NX_Q7Z739 63861 585 9.07 8 Cytoplasm;Nucleus speckle;Cytosol;Nucleus membrane;Cytosol NA 0 PE1 -NX_Q7Z745 180781 1585 5.9 5 Cytoplasm;Acrosome;Flagellum NA 0 PE1 -NX_Q7Z769 35066 313 9.29 12 Membrane NA 9 PE2 -NX_Q7Z794 61901 578 5.73 12 Nucleus membrane;Cell membrane NA 0 PE1 -NX_Q7Z7A1 268886 2325 5.44 9 Cytosol;Centrosome;Midbody ring;Centrosome NA 0 PE1 -NX_Q7Z7A3 36450 348 9.48 19 Cytoplasm NA 0 PE1 -NX_Q7Z7A4 64950 578 9.41 3 Cell membrane;Microtubule organizing center;Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q7Z7B0 138109 1213 8.46 6 Cell membrane;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q7Z7B1 56882 504 9.31 17 Cell membrane;Endoplasmic reticulum membrane Hyperphosphatasia with mental retardation syndrome 5 12 PE1 -NX_Q7Z7B7 10610 95 9.72 20 Secreted NA 0 PE1 -NX_Q7Z7B8 10650 93 9.08 20 Secreted NA 0 PE2 -NX_Q7Z7C7 36908 330 4.97 7 Cytoplasm;Nucleus NA 0 PE1 -NX_Q7Z7C8 34262 310 6.03 6 Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q7Z7D3 30878 282 5.2 1 Focal adhesion;Cell junction;Cell membrane;Cell membrane NA 1 PE1 -NX_Q7Z7E8 46127 422 4.96 1 Centrosome;Nucleoplasm;Cytosol;Nucleus;Filopodium NA 0 PE1 -NX_Q7Z7F0 64845 614 8.84 1 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q7Z7F7 15128 128 11.15 1 Mitochondrion NA 0 PE1 -NX_Q7Z7G0 118642 1075 9.48 3 Nucleolus;Centrosome;Nucleus speckle;Cytosol;Secreted NA 0 PE1 -NX_Q7Z7G1 49554 428 9.11 4 Cytoplasmic vesicle NA 0 PE1 -NX_Q7Z7G2 18336 160 4.54 18 Membrane;Synapse NA 0 PE1 -NX_Q7Z7G8 448664 4022 6.03 8 Cell junction Cohen syndrome 0 PE1 -NX_Q7Z7H3 43900 387 5.28 2 Cytoskeleton;Cell membrane;Cytoplasm;Nucleus NA 0 PE1 -NX_Q7Z7H5 25943 227 8.41 7 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q7Z7H8 29283 261 9.63 17 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q7Z7J5 33784 298 9.35 3 Nucleus;Nucleus NA 0 PE1 -NX_Q7Z7J7 27007 247 6.85 3 Golgi apparatus;Nucleus;Membrane NA 4 PE1 -NX_Q7Z7J9 8553 78 5.22 1 Synaptosome;Postsynaptic density NA 0 PE1 -NX_Q7Z7K0 12490 106 8.89 3 Mitochondrion NA 0 PE1 -NX_Q7Z7K2 65124 595 9.12 7 Nucleus;Mitochondrion NA 0 PE1 -NX_Q7Z7K6 29946 275 9.78 17 Cytosol;Kinetochore;Nucleus;Spindle;Nucleoplasm NA 0 PE1 -NX_Q7Z7L1 102836 901 8 17 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q7Z7L7 88169 766 5.43 9 Cytosol NA 0 PE1 -NX_Q7Z7L8 46114 435 10.04 11 Cytosol;Nucleus;Focal adhesion NA 0 PE1 -NX_Q7Z7L9 69547 614 7.04 15 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q7Z7M0 303100 2845 6.45 19 Membrane Carpenter syndrome 2 1 PE1 -NX_Q7Z7M1 104087 963 8.33 9 Membrane NA 7 PE2 -NX_Q7Z7M8 43396 397 8.66 19 Golgi apparatus membrane NA 1 PE1 -NX_Q7Z7M9 106266 940 9.51 2 Cytosol;Golgi apparatus membrane;Nucleolus;Golgi apparatus;Cytoplasmic vesicle NA 1 PE1 -NX_Q7Z7N9 23550 219 8.1 11 Nucleus speckle;Membrane NA 4 PE1 -NX_Q86SE5 32331 291 7.69 8 Nucleoplasm NA 0 PE1 -NX_Q86SE8 24152 214 4.97 8 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q86SE9 29714 256 6.11 10 Centrosome;Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q86SF2 75389 657 6.67 4 Nucleus;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q86SG2 34297 305 9.51 2 Nucleus;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q86SG3 64785 579 9.23 Y Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 0 PE1 -NX_Q86SG4 20403 172 9.89 15 NA NA 0 PE5 -NX_Q86SG5 11305 101 6.89 1 Cytoplasm NA 0 PE1 -NX_Q86SG6 74806 692 8.02 17 Cytoplasm;Cytoskeleton;Cilium Renal-hepatic-pancreatic dysplasia 2;Nephronophthisis 9 0 PE1 -NX_Q86SG7 23498 212 9.03 2 Secreted NA 0 PE1 -NX_Q86SH2 45873 424 9.31 4 Cytoplasm NA 0 PE1 -NX_Q86SH4 10756 94 9.57 20 Secreted NA 0 PE5 -NX_Q86SI9 15091 138 11.42 5 Secreted;Cytoplasmic vesicle;Golgi apparatus NA 0 PE2 -NX_Q86SJ2 57934 522 8.73 12 Cell membrane;Cell membrane;Cytosol;Nucleus;Golgi apparatus NA 1 PE1 -NX_Q86SJ6 113824 1040 4.42 18 Desmosome;Cell membrane Hypotrichosis 6 1 PE1 -NX_Q86SK9 37610 330 9.65 4 Endoplasmic reticulum membrane NA 4 PE1 -NX_Q86SM5 31518 289 9.59 11 Cell membrane NA 7 PE2 -NX_Q86SM8 34286 312 8.49 11 Cell membrane NA 7 PE2 -NX_Q86SP6 80984 731 6.56 3 Cell membrane NA 7 PE2 -NX_Q86SQ0 142158 1253 7.06 3 Membrane;Cell membrane;Cytosol;Cytoplasm NA 0 PE1 -NX_Q86SQ3 50903 457 8.7 19 Cell membrane;Secreted NA 7 PE5 -NX_Q86SQ4 136695 1221 8.18 6 Cell membrane Lethal congenital contracture syndrome 9 7 PE1 -NX_Q86SQ6 60885 560 8.25 10 Membrane NA 7 PE1 -NX_Q86SQ7 82682 713 5.59 1 Centrosome;Cytoplasm;Cell junction;Centriole Senior-Loken syndrome 7;Bardet-Biedl syndrome 16 0 PE1 -NX_Q86SQ9 38657 333 8.56 1 Cell membrane;Endoplasmic reticulum membrane Retinitis pigmentosa 59 0 PE1 -NX_Q86SR1 68992 603 8.84 5 Nucleoplasm;Cell membrane;Golgi apparatus;Golgi apparatus membrane NA 1 PE1 -NX_Q86SS6 56188 491 6.79 11 Synaptic vesicle membrane NA 1 PE1 -NX_Q86SU0 62815 546 9.12 3 Cell membrane;Cytosol Deafness, autosomal recessive, 42 1 PE1 -NX_Q86SX3 54231 495 8.4 14 Cytosol;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q86SX6 16628 157 6.28 14 Mitochondrion;Mitochondrion matrix Anemia, sideroblastic, 3, pyridoxine-refractory;Spasticity, childhood-onset, with hyperglycinemia 0 PE1 -NX_Q86SY8 5770 53 5.43 14 NA NA 0 PE5 -NX_Q86SZ2 17983 158 8.88 14 Endoplasmic reticulum;Endoplasmic reticulum;cis-Golgi network NA 0 PE1 -NX_Q86T03 29470 277 9.24 14 Late endosome membrane;Lysosome membrane NA 2 PE1 -NX_Q86T13 51636 490 5.98 14 Golgi apparatus;Endoplasmic reticulum;Membrane NA 1 PE1 -NX_Q86T20 17113 159 9.03 6 Secreted NA 0 PE2 -NX_Q86T23 12396 111 4.45 1 NA NA 0 PE5 -NX_Q86T24 74484 672 4.97 X Nucleus;Cytosol;Nucleus;Cell membrane;Nucleus;Cytoplasm NA 0 PE1 -NX_Q86T26 46337 416 9.04 4 Endoplasmic reticulum;Cell membrane NA 1 PE1 -NX_Q86T29 74376 641 9.32 12 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q86T65 123499 1068 6.36 6 Cytosol;Nucleus NA 0 PE1 -NX_Q86T75 99433 865 4.75 1 Cytoplasm NA 0 PE2 -NX_Q86T82 110170 979 5.87 2 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q86T90 65373 577 8.36 18 Lipid droplet;Cytoplasmic vesicle;Nucleus speckle NA 0 PE1 -NX_Q86T96 68254 592 8.89 5 Endoplasmic reticulum membrane;Cytosol;Nucleus envelope NA 1 PE1 -NX_Q86TA1 25464 216 8.72 9 NA NA 0 PE1 -NX_Q86TA4 19528 180 7.57 2 NA NA 0 PE5 -NX_Q86TB3 237013 2170 5.14 18 Cytosol NA 0 PE1 -NX_Q86TB9 86850 770 6.22 11 Cytosol;Nucleus speckle;PML body;P-body;Nucleus NA 0 PE1 -NX_Q86TC9 145257 1320 6.33 10 Cytoskeleton;Nucleus;Cytosol;Cytoplasm;Sarcomere;Cytoplasmic vesicle;Nucleus;Z line Cardiomyopathy, familial hypertrophic 22;Cardiomyopathy, dilated 1KK;Nemaline myopathy 11;Cardiomyopathy, familial restrictive 4 0 PE1 -NX_Q86TD4 100788 932 4.34 16 Sarcoplasmic reticulum lumen NA 0 PE1 -NX_Q86TE4 38958 346 8.9 11 Secreted;Cell membrane;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q86TG1 28835 271 5.45 2 Nucleoplasm;Cytoplasmic vesicle;Cell membrane NA 6 PE1 -NX_Q86TG7 80173 708 5.94 7 Cytosol;Cytoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q86TH1 104621 951 6.02 9 Cytoplasmic vesicle;Nucleoplasm;Secreted Geleophysic dysplasia 1 0 PE1 -NX_Q86TI0 133084 1168 6.52 4 Nucleolus;Nucleus NA 0 PE1 -NX_Q86TI2 98263 863 6.01 19 Cytosol;Cytosol;Nucleus NA 0 PE1 -NX_Q86TI4 40731 376 8.54 7 NA NA 0 PE2 -NX_Q86TJ2 48470 420 7.93 4 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q86TJ5 60582 538 7.56 19 Nucleolus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86TL0 52922 474 8.93 19 Mitochondrion matrix;Cytoplasm;Cytoplasm NA 0 PE1 -NX_Q86TL2 33187 294 8.28 3 Cytosol;Endoplasmic reticulum membrane NA 5 PE1 -NX_Q86TM3 71154 631 9.16 X Nucleus NA 0 PE1 -NX_Q86TM6 67685 617 6.47 11 Endoplasmic reticulum;Endoplasmic reticulum;Cell membrane;Nucleoplasm;Endoplasmic reticulum membrane NA 5 PE1 -NX_Q86TN4 27742 253 10.01 11 Mitochondrion NA 0 PE1 -NX_Q86TP1 50200 453 5.28 1 Cytoplasm;Focal adhesion;Nucleus;Cytosol Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 0 PE1 -NX_Q86TS7 6040 51 4.72 14 NA NA 0 PE5 -NX_Q86TS9 13664 123 10.27 14 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q86TU6 12089 105 9.74 14 NA NA 0 PE5 -NX_Q86TU7 67257 594 5.72 14 Nucleus;Mitochondrion NA 0 PE1 -NX_Q86TV6 94179 843 6.43 14 Cell membrane;Cytosol;Cell membrane NA 0 PE1 -NX_Q86TW2 60577 530 8.84 14 Nucleoplasm;Secreted NA 0 PE1 -NX_Q86TX2 46277 421 6.9 14 Cytoplasm NA 0 PE1 -NX_Q86TY3 84173 774 4.26 14 Cell membrane;Membrane NA 1 PE1 -NX_Q86TZ1 59379 520 5.95 14 Centrosome NA 0 PE1 -NX_Q86U02 13541 117 6.01 14 Membrane NA 1 PE5 -NX_Q86U06 48731 439 9.86 14 Nucleus;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q86U10 60883 573 5.44 14 NA NA 0 PE1 -NX_Q86U17 46989 422 7.25 14 Secreted NA 0 PE1 -NX_Q86U28 16476 154 5.16 14 Mitochondrion Multiple mitochondrial dysfunctions syndrome 4 0 PE1 -NX_Q86U37 18828 167 9.74 14 NA NA 0 PE2 -NX_Q86U38 69438 636 6.86 14 Cytosol;Nucleus;Nucleolus NA 0 PE1 -NX_Q86U42 32749 306 5.04 14 Cytoplasm;Nucleus;Nucleus speckle;Cytoplasm;Nucleus Oculopharyngeal muscular dystrophy 0 PE1 -NX_Q86U44 64474 580 5.98 14 Nucleus speckle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q86U70 46533 411 6.52 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86U86 192948 1689 6.46 3 Nucleoplasm;Nucleus Renal cell carcinoma 0 PE1 -NX_Q86U90 29328 279 8.9 1 Mitochondrion;Membrane;Mitochondrion NA 0 PE1 -NX_Q86UA1 78430 669 5.26 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86UA6 24784 219 4.93 17 Nucleolus;Nucleus;Cytoplasm;Nucleus;PML body NA 0 PE1 -NX_Q86UB2 56774 503 9.15 13 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q86UB9 52291 458 9.53 11 Peroxisome membrane;Cytoplasmic vesicle;Mitochondrion membrane NA 6 PE1 -NX_Q86UC2 63687 560 5.53 6 Cytoplasmic vesicle;Cell membrane;Cytosol;Cilium axoneme Ciliary dyskinesia, primary, 32 0 PE1 -NX_Q86UD0 42637 394 9.14 9 Cytosol;Cytoplasm;Nucleus;Cell cortex;Apical cell membrane;Tight junction;Nucleolus;Nucleus NA 0 PE1 -NX_Q86UD1 30688 273 6.39 11 Nucleus NA 0 PE1 -NX_Q86UD3 28504 253 8.58 5 Cytoplasmic vesicle membrane;Early endosome membrane NA 2 PE1 -NX_Q86UD4 61725 541 8.94 19 Nucleus membrane;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86UD5 57564 537 6.28 4 Apical cell membrane;Basolateral cell membrane;Flagellum membrane;Mitochondrion membrane;Cell membrane;Synaptic vesicle membrane;Endosome membrane;Nucleoplasm;Cell junction NA 12 PE1 -NX_Q86UD7 28839 250 9.74 17 NA NA 0 PE2 -NX_Q86UE3 98405 836 8.94 19 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q86UE4 63837 582 9.33 8 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus membrane;Endoplasmic reticulum;Tight junction;Nucleolus;Perinuclear region NA 1 PE1 -NX_Q86UE6 58641 522 7.01 2 Cell membrane;Postsynaptic cell membrane NA 1 PE1 -NX_Q86UE8 87661 772 8.65 17 Nucleus;Cytoskeleton;Perinuclear region NA 0 PE1 -NX_Q86UF1 31538 283 6.85 7 Cytoskeleton;Cell membrane NA 4 PE1 -NX_Q86UF2 87900 777 5.09 7 Membrane NA 1 PE2 -NX_Q86UF4 34103 302 9.62 1 Cytoplasmic vesicle NA 0 PE2 -NX_Q86UG4 79232 719 8.93 5 Cell membrane NA 12 PE1 -NX_Q86UK0 293237 2595 7.89 2 Membrane Ichthyosis, congenital, autosomal recessive 4A;Ichthyosis, congenital, autosomal recessive 4B 14 PE1 -NX_Q86UK5 147948 1308 6.53 4 Mitochondrion;Cell membrane;Cilium basal body;Cilium;Cilium membrane;Nucleus Ellis-van Creveld syndrome;Acrofacial dysostosis, Weyers type 1 PE1 -NX_Q86UK7 98637 904 8.75 16 Cytosol;Cell membrane NA 0 PE1 -NX_Q86UL3 52071 456 9.28 8 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q86UL8 158754 1455 5.95 7 Synaptosome;Cytoplasm;Late endosome;Cell membrane Nephrotic syndrome 15 0 PE1 -NX_Q86UN2 49065 441 9.25 17 Cell membrane;Membrane raft;Perikaryon;Cell projection NA 0 PE1 -NX_Q86UN3 46106 420 7.58 11 Axon;Cell membrane;Membrane raft;Dendrite;Perikaryon NA 0 PE1 -NX_Q86UN6 22815 197 6.31 X Cytoplasm NA 0 PE1 -NX_Q86UP0 87752 819 4.65 14 Nucleoplasm;Cell membrane NA 1 PE1 -NX_Q86UP2 156275 1357 5.52 14 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q86UP3 393730 3567 5.94 8 Nucleus;Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q86UP6 68153 607 6.05 10 Nucleolus;Cytoplasmic vesicle;Secretory vesicle membrane NA 1 PE1 -NX_Q86UP8 107231 949 5.6 7 Nucleus NA 0 PE1 -NX_Q86UP9 25769 236 5.69 7 Membrane;Cytoplasmic vesicle NA 4 PE2 -NX_Q86UQ0 41189 364 8.61 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86UQ4 576159 5058 6.01 7 Cytoplasmic vesicle;Membrane;Centrosome;Cytosol NA 14 PE1 -NX_Q86UQ5 15623 136 7.12 18 Membrane NA 1 PE5 -NX_Q86UQ8 19019 179 9.46 7 Nucleus NA 0 PE1 -NX_Q86UR1 50933 476 6.06 9 Cytoplasm;Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q86UR5 189073 1692 9.68 6 Cell membrane;Presynaptic cell membrane;Synapse Cone-rod dystrophy 7 0 PE1 -NX_Q86US8 160462 1419 6.66 17 Nucleolus;Nucleolus;Cytosol;Cytosol;Telomere NA 0 PE1 -NX_Q86UT5 61032 571 6.24 11 Cell membrane;Cytoplasm NA 0 PE1 -NX_Q86UT6 107616 975 7 11 Cell membrane;Cell junction;Mitochondrion;Mitochondrion outer membrane NA 0 PE1 -NX_Q86UT8 37974 332 8.48 11 Cytoplasm;Nucleus NA 0 PE1 -NX_Q86UU0 157129 1499 8.79 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86UU1 151162 1377 8.85 11 Nucleoplasm NA 0 PE1 -NX_Q86UU5 66699 652 10.3 19 NA NA 0 PE1 -NX_Q86UU9 12305 113 5.24 17 Secreted NA 0 PE1 -NX_Q86UV5 119032 1035 5.75 1 Nucleus;Nucleoplasm;Cytoplasm;Cytosol;Mitochondrion NA 0 PE1 -NX_Q86UV6 28547 250 5.84 7 NA NA 0 PE1 -NX_Q86UV7 28517 250 5.95 7 NA NA 0 PE2 -NX_Q86UW1 37735 340 8.89 3 Cell membrane;Endoplasmic reticulum membrane NA 7 PE1 -NX_Q86UW2 14346 128 4.58 15 Mitochondrion;Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_Q86UW6 198801 1770 5.11 4 Centrosome;Cell membrane;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q86UW7 147735 1296 5.83 7 Cytoplasmic vesicle membrane;Synapse;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q86UW8 42801 402 9.12 19 Extracellular matrix NA 0 PE1 -NX_Q86UW9 67246 622 8.79 7 Nucleus membrane;Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86UX2 104576 942 8.47 10 Secreted;Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q86UX6 54994 486 6.16 10 NA NA 0 PE1 -NX_Q86UX7 75953 667 6.53 11 Cytoplasmic vesicle;Podosome Leukocyte adhesion deficiency 3 0 PE1 -NX_Q86UY5 47458 434 9.04 8 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q86UY6 27194 237 7.06 11 Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q86UY8 63420 548 8.46 12 Cytosol;Mitochondrion NA 0 PE1 -NX_Q86UZ6 64083 589 5.55 20 Nucleus;Nucleus NA 0 PE1 -NX_Q86V15 190069 1759 6.59 1 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q86V20 93705 835 6.41 10 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q86V21 75144 672 5.86 12 Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_Q86V24 43884 386 6.11 12 Cell membrane NA 7 PE1 -NX_Q86V25 40450 355 10.02 1 Secreted;Cytosol NA 0 PE1 -NX_Q86V35 24453 215 4.56 22 trans-Golgi network membrane;Perinuclear region;Cell membrane NA 1 PE1 -NX_Q86V40 57676 505 9.03 2 Cell membrane NA 1 PE1 -NX_Q86V42 60104 546 6.12 13 Nucleus;Cytosol NA 0 PE1 -NX_Q86V48 120275 1076 8.67 1 Cytosol;Cytoplasmic vesicle;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q86V59 48161 439 9.09 19 Nucleus;Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q86V71 78152 674 9.5 19 Nucleus;Nucleus NA 0 PE2 -NX_Q86V81 26888 257 11.15 17 Nucleus;Nucleus speckle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q86V85 49395 440 7.01 13 Membrane;Cytoplasmic vesicle NA 7 PE1 -NX_Q86V86 35891 326 5.75 22 Cytosol;Cytoplasm NA 0 PE1 -NX_Q86V87 82340 743 5.27 8 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q86V88 20109 176 5.95 14 Nucleoplasm NA 0 PE1 -NX_Q86V97 76138 674 5.74 13 NA NA 0 PE1 -NX_Q86VB7 125451 1156 5.61 12 Cell membrane;Cell membrane;Secreted NA 1 PE1 -NX_Q86VD1 112881 984 8.11 3 Nucleus NA 0 PE1 -NX_Q86VD7 35409 318 10.08 19 Mitochondrion inner membrane;Mitochondrion NA 6 PE1 -NX_Q86VD9 63471 579 8.66 3 Endoplasmic reticulum membrane;Cytoplasmic vesicle NA 8 PE2 -NX_Q86VE0 42508 399 10.08 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q86VE3 55833 508 5.17 X NA NA 0 PE1 -NX_Q86VE9 47009 423 7.88 5 Nucleus;Cell membrane;Perinuclear region;Golgi apparatus;Cytoplasmic vesicle NA 9 PE1 -NX_Q86VF2 137763 1251 7.51 1 Midbody ring;Nucleus;Z line NA 0 PE1 -NX_Q86VF5 38730 341 8.86 7 Centrosome;Endoplasmic reticulum membrane NA 3 PE1 -NX_Q86VF7 197074 1730 9.24 10 Centrosome NA 0 PE1 -NX_Q86VG3 25407 221 4.39 11 Cytosol NA 0 PE1 -NX_Q86VH2 160283 1401 6.9 9 Cytoskeleton;Cilium NA 0 PE1 -NX_Q86VH4 67217 590 9.12 2 Postsynaptic cell membrane;Cell membrane NA 1 PE1 -NX_Q86VH5 65896 581 9.28 10 Cell membrane;Postsynaptic cell membrane NA 1 PE1 -NX_Q86VI1 81678 746 5.44 16 Cell membrane;Cytoplasmic vesicle;Secretory vesicle NA 0 PE2 -NX_Q86VI3 184699 1631 7.34 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q86VI4 41146 370 9.22 8 Golgi apparatus;Late endosome membrane;Cell membrane;Cell projection;Lysosome membrane;Endomembrane system;Endosome membrane;Multivesicular body membrane;Multivesicular body lumen NA 4 PE1 -NX_Q86VK4 52113 478 5.86 14 Nucleus;Nucleus NA 0 PE1 -NX_Q86VL8 65085 602 8.63 17 Endoplasmic reticulum;Cell membrane NA 13 PE1 -NX_Q86VM9 106378 953 8.39 16 Nucleus;Nucleus speckle NA 0 PE1 -NX_Q86VN1 43817 386 6.75 13 Cytoplasm;Endosome;Late endosome;Cell membrane;Cell junction;Lysosome;Cytoplasmic vesicle;Membrane;Nucleus NA 0 PE1 -NX_Q86VP1 90877 789 5.3 7 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q86VP3 97702 889 6.15 14 Mitochondrion;Endoplasmic reticulum;Mitochondrion NA 0 PE1 -NX_Q86VP6 136376 1230 5.52 12 Cytosol;Golgi apparatus;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q86VQ0 80554 697 7.31 6 Centrosome;Cilium basal body;Cilium axoneme;Cytoskeleton Leber congenital amaurosis 5 0 PE1 -NX_Q86VQ1 58024 547 9.54 7 Nucleolus NA 0 PE1 -NX_Q86VQ3 60404 553 4.81 18 Cytoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q86VQ6 70683 643 8.13 3 Nucleus;Microsome;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_Q86VR2 51396 466 4.83 17 Membrane;Nucleoplasm;Cytosol;Nucleus membrane NA 3 PE1 -NX_Q86VR7 91625 867 7.91 19 Nucleus;Membrane NA 1 PE1 -NX_Q86VR8 48507 437 10.66 11 Cytoplasmic vesicle;Secreted NA 0 PE2 -NX_Q86VS3 117349 1027 9.19 15 Cytosol NA 0 PE1 -NX_Q86VS8 83126 718 5.12 8 Cytoskeleton;Cytosol;Golgi apparatus;Microtubule organizing center;Golgi apparatus NA 0 PE1 -NX_Q86VU5 28809 262 8.71 10 Membrane;Golgi apparatus;Cell membrane;Cytosol NA 1 PE1 -NX_Q86VV4 52211 465 9.15 5 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q86VV8 248630 2226 6.25 18 Cilium basal body Microcephaly, short stature, and polymicrogyria with or without seizures 0 PE1 -NX_Q86VW0 79348 696 4.99 2 Cytosol;Microtubule organizing center NA 0 PE1 -NX_Q86VW1 64614 577 8.44 6 Membrane;Cell membrane NA 12 PE1 -NX_Q86VW2 63843 580 6.19 12 Cytoplasmic vesicle;Cell membrane;Sarcomere NA 0 PE1 -NX_Q86VX2 22540 200 5.69 20 Cytoplasmic vesicle;Cytoplasmic vesicle NA 0 PE1 -NX_Q86VX9 62131 555 5.9 3 Cytosol NA 0 PE1 -NX_Q86VY4 45143 417 9.57 8 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q86VY9 54356 491 9.24 6 Membrane NA 2 PE1 -NX_Q86VZ1 40635 359 9.62 X Cell membrane NA 7 PE1 -NX_Q86VZ2 36338 330 7.53 3 NA NA 0 PE1 -NX_Q86VZ4 53311 500 6.04 6 Membrane;Mitochondrion NA 1 PE1 -NX_Q86VZ5 49208 419 8.66 10 Cytosol;Golgi apparatus membrane;Nucleoplasm NA 5 PE1 -NX_Q86VZ6 27079 243 8.63 7 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q86W10 59086 505 9.29 1 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_Q86W11 56364 494 6.24 18 Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q86W24 124733 1093 6.18 11 Cytosol NA 0 PE1 -NX_Q86W25 118884 1043 5.43 19 NA NA 0 PE1 -NX_Q86W26 75032 655 6.81 11 Cell membrane;Nucleoplasm;Cytoplasm;Nucleus membrane NA 0 PE1 -NX_Q86W28 119430 1048 8.32 19 Cytoplasm NA 0 PE2 -NX_Q86W33 41053 373 5.72 3 Cytoplasmic vesicle;Membrane NA 7 PE1 -NX_Q86W34 41263 360 8.41 17 Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q86W42 37535 341 7.12 16 Nucleus speckle;Nucleus;Nucleoplasm;Nucleus speckle Beaulieu-Boycott-Innes syndrome 0 PE1 -NX_Q86W47 23949 210 6.29 12 Membrane;Cytosol NA 2 PE1 -NX_Q86W50 63621 562 8.08 17 Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q86W54 23587 205 7.77 5 Nucleus;Cytosol;Cytoplasm;Nucleolus;Nucleoplasm NA 0 PE1 -NX_Q86W56 111110 976 6.03 10 Mitochondrion matrix;Nucleus;Nucleus;Cytoplasm;Cytoplasmic vesicle;Mitochondrion NA 0 PE1 -NX_Q86W67 23752 206 9.07 2 NA NA 0 PE2 -NX_Q86W74 25967 232 6.65 8 Cytosol;Membrane NA 1 PE1 -NX_Q86W92 114024 1011 5.4 12 Cytoplasm;Cell membrane;Cytosol NA 0 PE1 -NX_Q86WA6 32543 291 9.2 6 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q86WA8 94617 852 6.88 16 Peroxisome matrix NA 0 PE1 -NX_Q86WA9 65299 606 7.02 17 Golgi apparatus;Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Lysosome membrane NA 12 PE1 -NX_Q86WB0 55262 502 5.44 7 Nucleus;Nucleus;Nucleus membrane;Nucleus NA 0 PE1 -NX_Q86WB7 50270 457 7.46 6 Cell membrane NA 11 PE1 -NX_Q86WC4 37257 334 5.69 6 Lysosome membrane;Nucleus;Cytoplasmic vesicle;Cytosol Osteopetrosis, autosomal recessive 5 1 PE1 -NX_Q86WC6 17438 154 6.51 17 NA NA 0 PE1 -NX_Q86WD7 46557 417 9.58 14 Secreted;Cytoplasm;Membrane NA 0 PE1 -NX_Q86WG3 42120 371 4.54 19 Mitochondrion envelope;Cytoplasm;Synapse;Dendrite;Axon Cerebellar ataxia, cayman type 0 PE1 -NX_Q86WG5 208464 1849 6.62 11 Cytosol;Nucleoplasm;Cytoskeleton;Cytoplasm;Membrane Charcot-Marie-Tooth disease 4B2 0 PE1 -NX_Q86WH2 27562 238 7.02 12 Cytoplasm;Cytoskeleton;Cell membrane;Cytosol NA 0 PE1 -NX_Q86WI0 23777 220 8.39 X Membrane NA 3 PE2 -NX_Q86WI1 465734 4243 5.71 8 Membrane NA 1 PE1 -NX_Q86WI3 204595 1866 5.99 16 Centrosome;Cytoplasm NA 0 PE1 -NX_Q86WJ1 100984 897 6.45 1 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q86WK6 55239 493 6.22 1 Cell membrane;Nucleoplasm;Nucleus;Perikaryon;Dendrite;Axon NA 1 PE1 -NX_Q86WK7 55250 504 8.11 3 Membrane NA 1 PE2 -NX_Q86WK9 39719 346 6.99 1 Cytosol;Cell membrane NA 7 PE1 -NX_Q86WN1 76942 690 5.23 5 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q86WN2 24414 208 8.75 9 Secreted NA 0 PE2 -NX_Q86WP2 53339 473 6.56 5 Cytoplasm;Cytosol;Cell membrane;Cytoplasmic vesicle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q86WQ0 15876 139 5.77 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q86WR0 24479 208 6.34 8 Nucleoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q86WR6 27182 236 9.65 17 Nucleoplasm;Cytoplasmic vesicle NA 0 PE2 -NX_Q86WR7 45802 435 6.74 10 Cytosol;Cell membrane NA 0 PE1 -NX_Q86WS3 17971 158 4.71 11 Secreted NA 0 PE1 -NX_Q86WS4 74505 652 8.21 12 NA NA 0 PE1 -NX_Q86WS5 38605 348 8.91 12 Membrane NA 1 PE1 -NX_Q86WT1 76136 665 5.11 2 Cilium NA 0 PE1 -NX_Q86WT6 57419 500 6.04 15 Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q86WU2 54871 507 6.2 16 Mitochondrion;Cytosol NA 0 PE1 -NX_Q86WV1 41432 359 4.47 17 Cell membrane;Nucleus;Cytoplasm NA 0 PE1 -NX_Q86WV5 13856 123 7.76 17 Nucleus;Nucleus;Telomere NA 0 PE1 -NX_Q86WV6 42193 379 6.6 5 Cytosol;Cytoplasm;Perinuclear region;Cell membrane;Mitochondrion outer membrane;Endoplasmic reticulum membrane STING-associated vasculopathy, infantile-onset 4 PE1 -NX_Q86WW8 8376 74 8.97 2 Mitochondrion Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 0 PE1 -NX_Q86WX3 15434 136 10.75 22 Nucleus;Nucleus;Cytosol;Nucleolus;Nucleolus;Nucleolus NA 0 PE1 -NX_Q86WZ0 117175 1026 9.21 14 NA NA 0 PE1 -NX_Q86WZ6 92033 799 9.1 19 Nucleus;Cell membrane NA 0 PE1 -NX_Q86X02 53010 465 5.7 17 Cytosol NA 0 PE1 -NX_Q86X10 166799 1494 6.33 20 Nucleus speckle NA 0 PE1 -NX_Q86X19 23046 198 6.3 2 Cytoskeleton;Cilium membrane Orofaciodigital syndrome 6 4 PE1 -NX_Q86X24 45200 394 5.66 1 Nucleus;Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q86X27 65167 583 8.86 1 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q86X29 71439 649 8.29 19 Cell membrane;Nucleoplasm;Cell membrane;Cytosol NA 1 PE1 -NX_Q86X40 41912 367 8.18 15 Nucleus;Mitochondrion;Golgi apparatus NA 0 PE1 -NX_Q86X45 54255 466 6.08 8 Cytoplasm;Cilium Ciliary dyskinesia, primary, 19 0 PE1 -NX_Q86X51 51894 503 10.15 X Nucleoplasm NA 0 PE1 -NX_Q86X52 91784 802 9.31 15 Golgi stack membrane;Secreted Temtamy preaxial brachydactyly syndrome 1 PE1 -NX_Q86X53 48984 443 4.68 8 Nucleolus;Cytosol;Nucleus NA 0 PE1 -NX_Q86X55 65854 608 6.25 19 Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q86X59 25393 251 10.38 17 NA NA 0 PE1 -NX_Q86X60 16617 149 5.54 1 NA NA 0 PE2 -NX_Q86X67 39688 352 7.11 10 Nucleus NA 0 PE2 -NX_Q86X76 35896 327 7.91 1 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q86X83 22745 199 6.24 3 Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q86X95 52313 450 9.88 2 Nucleus speckle;Nucleus speckle;Centrosome NA 0 PE1 -NX_Q86XA0 21469 190 4.91 17 Cytoplasm;Membrane Mental retardation, autosomal recessive 44 1 PE1 -NX_Q86XA9 222004 2040 6.14 14 NA NA 0 PE1 -NX_Q86XD5 35769 332 4.34 7 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q86XD8 80358 727 8.66 10 Golgi apparatus NA 0 PE2 -NX_Q86XE0 46399 403 6.63 11 Cell junction;Focal adhesion NA 0 PE1 -NX_Q86XE3 60711 530 8.35 8 Mitochondrion;Membrane NA 1 PE1 -NX_Q86XE5 35249 327 8.13 10 Mitochondrion Hyperoxaluria primary 3 0 PE1 -NX_Q86XF0 21620 187 7.75 3 Mitochondrion matrix;Mitochondrion inner membrane;Mitochondrion NA 0 PE1 -NX_Q86XF7 26763 245 9.83 19 Nucleolus;Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_Q86XG9 40546 351 4.95 1 Cytoplasm NA 0 PE5 -NX_Q86XH1 95341 822 9.48 2 Nucleus NA 0 PE1 -NX_Q86XI2 130960 1143 6.43 7 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q86XI6 32695 285 5.86 8 Cytosol NA 0 PE1 -NX_Q86XI8 70073 627 8.92 19 Nucleus NA 0 PE1 -NX_Q86XJ0 39087 350 8.9 10 Membrane;Nucleoplasm NA 4 PE2 -NX_Q86XJ1 75214 694 9.67 12 Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q86XK2 103585 927 6.53 2 Nucleus;Nucleus;Chromosome NA 0 PE1 -NX_Q86XK3 28262 245 6.06 10 Nucleus NA 0 PE1 -NX_Q86XK7 41811 387 4.59 X Cytoplasmic vesicle;Cytosol;Membrane NA 1 PE1 -NX_Q86XL3 104114 938 6.66 12 Endoplasmic reticulum;Cell membrane;Endoplasmic reticulum membrane Microcephaly 16, primary, autosomal recessive 1 PE1 -NX_Q86XM0 90468 798 7.04 19 Flagellum membrane NA 1 PE1 -NX_Q86XN6 87719 746 9.23 19 Nucleus NA 0 PE1 -NX_Q86XN7 95698 944 9.06 13 Cytosol;Nucleus NA 0 PE1 -NX_Q86XN8 64883 651 5.19 19 Nucleus;Cytoplasm NA 0 PE1 -NX_Q86XP0 91952 818 5.33 15 Membrane;Cytosol NA 0 PE1 -NX_Q86XP1 134866 1220 6.11 13 Cell membrane;Cytoplasm NA 0 PE1 -NX_Q86XP3 102975 938 6.54 17 Nucleus speckle;Cytoplasm;Nucleus speckle;Cajal body NA 0 PE1 -NX_Q86XP6 20487 184 7.03 2 Secreted NA 0 PE1 -NX_Q86XQ3 46422 398 5.88 5 Flagellum membrane NA 6 PE1 -NX_Q86XR2 77413 697 8.99 19 NA NA 0 PE1 -NX_Q86XR5 16689 153 8.83 14 Cell membrane;Cytosol;Nucleolus;Cell junction;Cell membrane;Synapse NA 1 PE1 -NX_Q86XR7 26916 235 4.99 5 Early endosome membrane;Late endosome membrane;Cytoplasm;Golgi apparatus;Cell membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q86XR8 57089 500 9.35 11 Nucleus;Cytoplasm;Centrosome;Cytosol;Cytoskeleton Mosaic variegated aneuploidy syndrome 2 0 PE1 -NX_Q86XS5 44144 388 6.14 11 Secreted NA 0 PE1 -NX_Q86XS8 46405 419 9.12 5 Membrane;Cytoplasm NA 1 PE1 -NX_Q86XT2 27730 251 9.2 7 Cytoplasmic vesicle;Late endosome membrane NA 0 PE1 -NX_Q86XT4 54774 487 7.28 7 Cytoplasm NA 0 PE1 -NX_Q86XT9 25724 240 8.81 16 Cell membrane NA 1 PE1 -NX_Q86XU0 67996 584 9.3 19 Centrosome;Nucleus;Nucleus NA 0 PE1 -NX_Q86XW9 36856 330 4.82 3 Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q86XX4 443214 4008 5.32 4 Nucleolus;Cell membrane Fraser syndrome 1 PE1 -NX_Q86XZ4 59545 545 9.01 12 Cytoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_Q86Y01 67368 620 9.67 12 Nucleus;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q86Y07 58141 508 8.97 2 Nucleus;Cytoplasm;Mitochondrion membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q86Y13 138604 1208 6.45 3 Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q86Y22 51944 540 6.88 5 Cell membrane NA 1 PE1 -NX_Q86Y25 64847 554 8.36 5 Nucleus membrane;Nucleus;Cytosol NA 0 PE1 -NX_Q86Y26 120314 1132 5.32 15 Cytoplasm;Nucleus NA 0 PE1 -NX_Q86Y27 4711 43 4.58 13 Secreted NA 0 PE2 -NX_Q86Y28 4230 39 4.25 21 Secreted NA 0 PE2 -NX_Q86Y29 12112 109 8.59 21 Secreted NA 0 PE2 -NX_Q86Y30 12114 109 9.02 21 Secreted NA 0 PE2 -NX_Q86Y33 57335 519 8.76 5 NA NA 0 PE1 -NX_Q86Y34 60861 549 9.01 16 Cell membrane NA 7 PE1 -NX_Q86Y37 41064 369 5.08 10 Nucleoplasm NA 0 PE1 -NX_Q86Y38 107569 959 9.32 16 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum;Secreted Desbuquois dysplasia 2;Pseudoxanthoma elasticum 1 PE1 -NX_Q86Y39 14852 141 8.95 19 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency 2 PE1 -NX_Q86Y46 58923 540 6.93 12 NA NA 0 PE1 -NX_Q86Y56 93521 855 5.98 7 Cytosol;Nucleoplasm;Cytoplasm;Cytoplasmic granule Ciliary dyskinesia, primary, 18 0 PE1 -NX_Q86Y78 19118 171 5.69 2 Cytosol;Secreted;Cytoplasm;Cell membrane;Synaptosome;Membrane raft NA 0 PE1 -NX_Q86Y79 22937 214 10.59 9 NA NA 0 PE1 -NX_Q86Y82 31642 276 5.45 1 Recycling endosome membrane;Early endosome membrane;Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus;Endomembrane system;Endosome membrane;Golgi apparatus membrane NA 1 PE1 -NX_Q86Y91 94223 864 9.01 17 Cytoskeleton;Cytosol;Cytoskeleton;Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q86Y97 52113 462 9.9 19 Nucleus;Chromosome;Nucleoplasm NA 0 PE1 -NX_Q86YA3 236602 2104 5.81 4 Cytosol;Membrane NA 1 PE1 -NX_Q86YB7 31126 292 9.03 1 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q86YB8 53543 467 8.25 1 Endoplasmic reticulum membrane NA 0 PE1 -NX_Q86YC2 131295 1186 6.03 16 Nucleoplasm;Nucleus Pancreatic cancer 3;Fanconi anemia complementation group N;Breast cancer 0 PE1 -NX_Q86YC3 76366 692 5.75 3 Cell membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q86YD1 46869 416 10.54 19 Nucleus;Perinuclear region;Nucleus;Cell membrane NA 0 PE1 -NX_Q86YD3 39285 366 7.06 11 Secreted;Cell membrane;Cytoplasmic vesicle;Golgi apparatus NA 1 PE1 -NX_Q86YD5 37419 345 4.74 11 Cell membrane;Cell junction NA 1 PE1 -NX_Q86YD7 49793 464 9.71 12 NA NA 0 PE1 -NX_Q86YE8 78181 665 9.32 19 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q86YF9 98664 867 5.8 13 Nucleoplasm;Cytosol;Microtubule organizing center;Nucleus;Cytoplasm;Cilium basal body;Centriole NA 0 PE1 -NX_Q86YG4 48951 428 5.68 2 NA NA 0 PE1 -NX_Q86YH2 61584 543 7.62 22 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q86YH6 44129 399 8.43 6 Mitochondrion;Cytosol Coenzyme Q10 deficiency, primary, 3 0 PE1 -NX_Q86YI8 33582 300 7.89 1 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q86YJ5 37772 346 9.36 12 Golgi apparatus membrane;Lysosome membrane NA 2 PE1 -NX_Q86YJ6 54116 484 6.07 2 Secreted NA 0 PE1 -NX_Q86YJ7 70205 626 6.47 17 Cell membrane;Early endosome;Late endosome;Cytoplasmic vesicle NA 0 PE1 -NX_Q86YL5 20403 185 5.76 8 Cytosol;Cytoplasmic vesicle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q86YL7 16698 162 4.37 1 Ruffle membrane;Cytoplasmic vesicle;Membrane;Lamellipodium membrane;Filopodium membrane;Membrane raft;Apical cell membrane;Basolateral cell membrane;Microvillus membrane;Invadopodium;Cytosol NA 1 PE1 -NX_Q86YM7 40277 354 5.33 5 Cytosol;Cytoplasm;Postsynaptic density;Synapse NA 0 PE1 -NX_Q86YN1 27031 238 9.48 9 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cytoskeleton NA 4 PE1 -NX_Q86YN6 113222 1023 4.94 5 Nucleus;Nucleus NA 0 PE1 -NX_Q86YP4 68063 633 9.95 19 Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_Q86YQ2 19456 179 5.33 20 Secreted NA 0 PE5 -NX_Q86YQ8 63108 564 5.66 12 NA NA 0 PE1 -NX_Q86YR5 74510 675 6.1 9 Golgi apparatus;Cell membrane;Nucleoplasm;Cytosol;Golgi apparatus membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_Q86YR6 66394 584 6.32 21 Cell membrane NA 0 PE2 -NX_Q86YR7 126993 1114 6 3 Cell membrane;Cytosol Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_Q86YS3 71928 637 4.78 17 Cytoplasmic vesicle;Midbody;Cleavage furrow;Recycling endosome membrane;Centrosome;Spindle;Endosome;Cytoplasmic vesicle NA 0 PE1 -NX_Q86YS6 23339 212 5.44 3 Cell membrane;Golgi apparatus;trans-Golgi network membrane;trans-Golgi network;Phagosome;Phagosome membrane NA 0 PE1 -NX_Q86YS7 110447 1000 5.47 12 Cytoplasmic vesicle membrane;Cytosol;Cell membrane;Ruffle;Microtubule organizing center;Cell cortex NA 0 PE1 -NX_Q86YT5 63062 568 8.52 17 Nucleoplasm;Cell membrane;Membrane Epileptic encephalopathy, early infantile, 25 12 PE1 -NX_Q86YT6 110136 1006 6.47 18 Centriolar satellite;Cell membrane;Cytoplasm;Nucleus membrane;Cytoplasmic vesicle;Cell membrane Left ventricular non-compaction 7 0 PE1 -NX_Q86YT9 44339 394 6.68 11 Cell membrane;Cell junction NA 1 PE1 -NX_Q86YV0 111898 1011 9.03 19 Cytoplasm;Cell cortex NA 0 PE1 -NX_Q86YV5 149624 1406 6.83 8 Nucleoplasm;Centrosome;Cytosol NA 0 PE1 -NX_Q86YV6 44508 388 5.89 6 NA NA 0 PE1 -NX_Q86YV9 82975 775 5.92 10 Lysosome membrane;Microsome membrane;Early endosome membrane;Cytosol Hermansky-Pudlak syndrome 6 0 PE1 -NX_Q86YW0 70411 608 9.14 12 Nucleus;Perinuclear region Spermatogenic failure 17 0 PE1 -NX_Q86YW5 32679 311 5.7 6 Cytoplasm;Cell membrane NA 1 PE1 -NX_Q86YW7 14232 130 8 14 Secreted NA 0 PE1 -NX_Q86YW9 240120 2145 7.97 3 Nucleolus;Nucleus NA 0 PE1 -NX_Q86YZ3 282390 2850 10.05 1 Mitochondrion;Cytoplasmic granule NA 0 PE1 -NX_Q86Z02 130843 1210 8.48 1 Nucleus;Cytosol;Nucleoplasm;Centrosome;Cytoplasm NA 0 PE1 -NX_Q86Z14 119808 1044 9.28 4 Cell membrane NA 1 PE1 -NX_Q86Z20 58629 511 6.86 5 Nucleus membrane;Cytoplasm;Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q86Z23 24909 238 8.41 12 Secreted NA 0 PE1 -NX_Q8HWS3 102461 928 6.11 6 Nucleus;Nucleolus;Nucleus Mitchell-Riley syndrome 0 PE1 -NX_Q8IU53 8607 76 10.35 10 NA NA 0 PE4 -NX_Q8IU54 21898 200 9.08 19 Secreted NA 0 PE1 -NX_Q8IU57 57653 520 4.89 1 Cytosol;Membrane NA 1 PE1 -NX_Q8IU60 48457 420 8.21 5 Cytosol;Cell junction;Nucleoplasm;P-body;Nucleus NA 0 PE1 -NX_Q8IU68 81641 726 9.49 17 Golgi apparatus;Endoplasmic reticulum membrane Epidermodysplasia verruciformis 8 PE1 -NX_Q8IU80 90000 811 6.25 22 Cell membrane Iron-refractory iron deficiency anemia 1 PE1 -NX_Q8IU81 61688 584 8.52 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8IU85 42914 385 6.77 10 Nucleus;Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_Q8IU89 46316 383 7.63 15 Nucleus membrane Ichthyosis, congenital, autosomal recessive 9 6 PE1 -NX_Q8IU99 38264 346 8.53 10 Cell membrane;Endoplasmic reticulum membrane NA 4 PE1 -NX_Q8IUA0 27824 241 8.43 20 Secreted NA 0 PE1 -NX_Q8IUA7 184362 1624 6.49 17 Membrane NA 14 PE1 -NX_Q8IUB2 24687 231 7.58 20 Secreted NA 0 PE2 -NX_Q8IUB3 8325 73 8.82 20 Secreted NA 0 PE2 -NX_Q8IUB5 10386 93 8.41 20 Secreted NA 0 PE2 -NX_Q8IUB9 9008 90 8.45 21 NA NA 0 PE1 -NX_Q8IUC0 18320 172 8.54 21 NA NA 0 PE1 -NX_Q8IUC1 17085 163 8.32 21 NA NA 0 PE1 -NX_Q8IUC2 6826 63 7.6 21 NA NA 0 PE1 -NX_Q8IUC3 9288 87 8.57 21 NA NA 0 PE1 -NX_Q8IUC4 76993 686 6.35 19 Perinuclear region NA 0 PE1 -NX_Q8IUC6 76422 712 5.24 19 Cell membrane;Autophagosome;Nucleus;Nucleolus Herpes simplex encephalitis 4 0 PE1 -NX_Q8IUC8 64051 556 6.41 2 Golgi apparatus membrane NA 1 PE1 -NX_Q8IUD2 128086 1116 5.72 12 Cytoplasm;Cytosol;Cell membrane;Cytoplasmic vesicle;Membrane;Golgi apparatus membrane NA 0 PE1 -NX_Q8IUD6 47888 432 6.37 17 Cytoplasm;Cytoplasmic vesicle Macrocephaly, macrosomia, facial dysmorphism syndrome 0 PE1 -NX_Q8IUE0 20814 185 9.84 Y Nucleus NA 0 PE1 -NX_Q8IUE1 26675 241 9.13 X Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IUE6 13995 130 10.88 1 Nucleus;Nucleus;Chromosome NA 0 PE1 -NX_Q8IUF1 44034 395 4.79 2 NA NA 0 PE1 -NX_Q8IUF8 52800 465 6.23 3 Nucleolus;Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q8IUG1 18184 177 5.53 17 NA NA 0 PE2 -NX_Q8IUG5 285185 2567 6.49 22 Cytoplasm;Centrosome;Nucleoplasm;Sarcomere;Nucleus Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 0 PE1 -NX_Q8IUH2 32109 290 9.18 2 Secreted NA 0 PE1 -NX_Q8IUH3 53502 476 6.74 2 Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8IUH4 70861 622 8.39 11 Cytoplasmic vesicle membrane;Golgi apparatus membrane;Cytoplasmic vesicle NA 6 PE1 -NX_Q8IUH5 72640 632 7.29 12 Golgi apparatus membrane;Cytoplasmic vesicle;Cytosol;Cytoplasmic vesicle membrane;Presynaptic cell membrane;Golgi apparatus NA 6 PE1 -NX_Q8IUH8 74503 684 6.28 17 Endoplasmic reticulum membrane;Membrane NA 9 PE1 -NX_Q8IUI4 27226 249 4.8 16 NA NA 0 PE5 -NX_Q8IUI8 49766 442 5.01 17 Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q8IUK5 55760 500 5.49 17 Secreted;Cytoplasm;Tight junction;Cell membrane NA 1 PE1 -NX_Q8IUK8 24084 224 8.8 18 Secreted NA 0 PE1 -NX_Q8IUL8 126291 1156 8.63 19 Extracellular matrix NA 0 PE1 -NX_Q8IUM7 87117 802 4.53 11 Nucleus NA 0 PE1 -NX_Q8IUN9 35446 316 5.66 17 Membrane NA 1 PE1 -NX_Q8IUQ0 40788 354 6.68 8 trans-Golgi network membrane;Early endosome membrane;Clathrin-coated vesicle NA 0 PE1 -NX_Q8IUQ4 31123 282 6.35 16 Mitochondrion;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8IUR0 20783 188 9.69 19 cis-Golgi network;Endoplasmic reticulum;Cytoplasmic vesicle NA 0 PE1 -NX_Q8IUR5 98847 882 9.05 12 Cytosol;Nucleoplasm;Membrane NA 9 PE1 -NX_Q8IUR6 72149 639 4.76 5 Nucleus;Nucleus NA 0 PE1 -NX_Q8IUR7 75509 673 6.28 3 Nucleoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q8IUS5 42324 362 8.64 1 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q8IUW3 46179 424 5.35 16 Nucleoplasm;Cytosol;Mitochondrion NA 0 PE1 -NX_Q8IUW5 29340 271 8.57 4 Cell membrane;Cell membrane;Cytoskeleton NA 1 PE1 -NX_Q8IUX1 25943 230 8.96 11 Mitochondrion membrane;Mitochondrion NA 4 PE1 -NX_Q8IUX4 45020 373 6.85 22 Cytoplasm;P-body NA 0 PE1 -NX_Q8IUX7 130929 1158 5.05 7 Cytoplasmic vesicle;Nucleus;Nucleoplasm;Cytosol;Cytoplasm;Secreted NA 0 PE1 -NX_Q8IUX8 61317 553 8.45 X Basement membrane NA 0 PE2 -NX_Q8IUY3 40249 354 8.73 15 Membrane;Cytosol;Nucleus speckle;Nucleolus NA 1 PE1 -NX_Q8IUZ0 78894 686 7.94 15 Cytoskeleton NA 0 PE1 -NX_Q8IUZ5 49711 450 6.28 5 Mitochondrion;Mitochondrion Phosphohydroxylysinuria 0 PE1 -NX_Q8IV01 46537 421 5.37 11 Synaptic vesicle membrane NA 1 PE1 -NX_Q8IV03 24583 231 4.98 9 Nucleolus;Nucleus NA 0 PE1 -NX_Q8IV04 49712 446 9.03 11 Nucleus NA 0 PE1 -NX_Q8IV08 54705 490 6.02 19 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8IV13 48406 435 7.28 5 Nucleus speckle NA 0 PE2 -NX_Q8IV16 19806 184 4.71 8 Basolateral cell membrane;Cell membrane;Apical cell membrane Hyperlipoproteinemia 1D 0 PE1 -NX_Q8IV20 47780 430 6.64 13 Nucleoplasm;Peroxisome;Cytoskeleton;Cytosol Rheumatoid arthritis systemic juvenile 0 PE1 -NX_Q8IV31 23729 216 4.7 7 Focal adhesion;Membrane;Cell membrane NA 1 PE1 -NX_Q8IV32 49648 467 11.8 3 Nucleus membrane NA 0 PE1 -NX_Q8IV33 147763 1275 6.18 5 NA NA 0 PE1 -NX_Q8IV35 79295 697 8.76 3 NA NA 0 PE2 -NX_Q8IV36 88745 788 5.69 17 Cytosol;Cytoplasm;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 -NX_Q8IV38 49299 441 5.88 7 Nucleus;Cytoplasm;Cytosol;Nucleoplasm;Cilium NA 0 PE1 -NX_Q8IV42 39527 348 8.62 10 Nucleolus;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q8IV45 57818 518 6.21 6 Membrane;Centrosome;Cytoplasm NA 1 PE1 -NX_Q8IV48 40064 349 6.29 8 Cytoskeleton;Cytoplasmic vesicle;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8IV50 23463 215 5.27 15 Nucleus;Mitochondrion NA 0 PE1 -NX_Q8IV53 87065 801 5.46 19 Cytosol;Clathrin-coated vesicle NA 0 PE1 -NX_Q8IV56 13715 129 9.64 7 Cell junction;Cytoplasmic vesicle NA 0 PE1 -NX_Q8IV61 78332 690 6.33 2 Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q8IV63 52881 474 9.21 19 Nucleus;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q8IV76 87428 773 4.96 X Nucleus;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q8IV77 65999 575 5.4 11 Membrane NA 6 PE1 -NX_Q8IVA1 14547 136 4.67 19 Cytoplasmic vesicle;Nucleus speckle NA 0 PE1 -NX_Q8IVB4 72565 645 5.8 3 Late endosome membrane Autism 16 13 PE1 -NX_Q8IVB5 36563 337 8.8 1 Cytosol NA 0 PE1 -NX_Q8IVC4 48272 421 9.05 19 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q8IVD9 40822 361 5.16 7 Cell membrane;Cytosol;Nucleus NA 0 PE1 -NX_Q8IVE0 33334 287 10.84 1 NA NA 0 PE5 -NX_Q8IVE3 168229 1493 7.5 2 Cytoplasm;Cytoplasm;Cell membrane;Cytoskeleton;Cell membrane;Lamellipodium NA 0 PE1 -NX_Q8IVF1 93890 878 8.6 10 NA NA 0 PE2 -NX_Q8IVF2 616629 5795 5.2 14 Cytosol;Cell membrane;Nucleus NA 0 PE1 -NX_Q8IVF4 514841 4471 5.64 12 Cilium axoneme NA 0 PE1 -NX_Q8IVF5 190103 1701 6.8 6 Cytosol;Nucleoplasm;Cytoplasm;Nucleolus;Growth cone;Filopodium;Lamellipodium NA 0 PE1 -NX_Q8IVF6 115597 992 7.92 9 NA NA 0 PE2 -NX_Q8IVF7 117213 1028 6.23 12 Cytosol;Cytoplasm;Cell membrane;Golgi apparatus;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q8IVG5 184533 1584 8.25 7 Cytosol;Early endosome Ataxia-pancytopenia syndrome 0 PE1 -NX_Q8IVG9 2687 24 9.49 MT Secreted;Cytoplasm NA 0 PE1 -NX_Q8IVH2 73488 680 5.97 6 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IVH4 46538 418 9.37 4 Cytosol;Mitochondrion Methylmalonic aciduria type cblA 0 PE1 -NX_Q8IVH8 101316 894 7.38 2 Centrosome NA 0 PE1 -NX_Q8IVI9 57660 506 9.08 2 Cell membrane;Cytoplasmic vesicle;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q8IVJ1 54901 513 5.12 1 Cell membrane;Mitochondrion NA 10 PE1 -NX_Q8IVJ8 18525 170 10.7 3 Membrane NA 1 PE2 -NX_Q8IVK1 5018 47 9.3 12 NA NA 0 PE5 -NX_Q8IVL0 255648 2385 8.92 12 Cytosol;Nucleus membrane;Nucleus outer membrane NA 0 PE1 -NX_Q8IVL1 268167 2488 9.13 11 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8IVL5 80984 708 5.48 3 Endoplasmic reticulum;Sarcoplasmic reticulum;Golgi apparatus Myopia, high, with cataract and vitreoretinal degeneration 0 PE1 -NX_Q8IVL6 81837 736 5.93 12 Endoplasmic reticulum NA 0 PE1 -NX_Q8IVL8 42529 374 6.6 2 Apical cell membrane NA 0 PE1 -NX_Q8IVM0 35822 306 6.2 3 Cytoplasm;Cytosol;Cytoplasm Deafness, autosomal dominant, 44 0 PE1 -NX_Q8IVM7 18094 164 9.29 13 NA NA 0 PE5 -NX_Q8IVM8 62169 553 8.4 11 Basolateral cell membrane NA 12 PE1 -NX_Q8IVN3 8911 82 9.87 3 Nucleus NA 0 PE1 -NX_Q8IVN8 29610 264 7.71 8 Extracellular matrix NA 0 PE1 -NX_Q8IVP5 17178 155 8.67 X Mitochondrion outer membrane NA 3 PE1 -NX_Q8IVP9 45956 402 8.71 19 Nucleus NA 0 PE1 -NX_Q8IVQ6 31385 265 8.81 9 Membrane;Golgi apparatus;Golgi apparatus;Cytosol NA 4 PE1 -NX_Q8IVS2 42962 390 8.97 22 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q8IVS8 55253 523 6.25 3 Golgi apparatus;Cytoplasm;Cytosol;Mitochondrion;Cytoplasm D-glyceric aciduria 0 PE1 -NX_Q8IVT2 75357 679 6.36 19 Cell cortex;Cell membrane;Focal adhesion;Focal adhesion;Cytoskeleton NA 0 PE1 -NX_Q8IVT5 102160 923 8.94 17 Cytoplasm;Membrane;Cell membrane;Ruffle membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_Q8IVU1 86724 814 7.58 15 Membrane NA 1 PE1 -NX_Q8IVU3 115126 1022 8.22 4 Cytosol;Nucleus;Cytosol NA 0 PE1 -NX_Q8IVU9 23883 208 4.36 10 Centrosome;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8IVV2 221947 1947 5.24 18 Stereocilium Deafness, autosomal recessive, 77 0 PE1 -NX_Q8IVV7 33514 300 9.26 17 Cytosol NA 0 PE1 -NX_Q8IVV8 23240 208 5.43 20 Cell membrane NA 3 PE2 -NX_Q8IVW1 19388 177 9.85 17 Golgi apparatus NA 0 PE2 -NX_Q8IVW4 67514 592 9.35 5 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q8IVW6 60637 561 7.05 15 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8IVW8 58044 549 9.43 17 Membrane NA 11 PE1 -NX_Q8IVY1 12024 113 5.46 1 Membrane;Early endosome;Cell membrane;Recycling endosome;Nucleolus NA 1 PE1 -NX_Q8IW00 36146 320 9.88 10 Cytoplasmic vesicle;Nucleus;Secreted;Cell membrane NA 1 PE1 -NX_Q8IW03 30660 269 7.21 13 Mitochondrion NA 0 PE2 -NX_Q8IW19 56956 511 4.98 2 Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8IW35 96981 865 4.92 3 Centrosome;Cytosol;Microtubule organizing center NA 0 PE1 -NX_Q8IW36 60149 515 8.98 1 Nucleus;Nucleus speckle NA 0 PE1 -NX_Q8IW40 27163 242 5.74 17 Cytosol;Flagellum;Cytoplasm Ciliary dyskinesia, primary, 17 0 PE1 -NX_Q8IW41 54220 473 7.66 12 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8IW45 36576 347 8.21 13 Mitochondrion NA 0 PE1 -NX_Q8IW50 20400 185 4.53 9 Nucleoplasm;Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q8IW52 94331 837 7.95 X Membrane;Cell membrane;Cytoskeleton NA 1 PE1 -NX_Q8IW70 61506 566 6.72 6 Membrane NA 2 PE1 -NX_Q8IW75 47175 414 9.31 14 Secreted NA 0 PE1 -NX_Q8IW92 72079 636 7.2 11 Secreted;Nucleus NA 0 PE1 -NX_Q8IW93 89197 802 7.31 1 Nucleus NA 0 PE1 -NX_Q8IWA0 94499 830 5.65 2 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q8IWA4 84100 741 5.87 3 Mitochondrion;Mitochondrion outer membrane;Cytoplasm NA 2 PE1 -NX_Q8IWA5 80124 706 8.89 19 Cytoplasmic vesicle;Cell junction;Membrane NA 10 PE1 -NX_Q8IWA6 63091 550 9.71 12 NA NA 0 PE1 -NX_Q8IWB1 62060 547 5.58 10 Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q8IWB4 148734 1347 8.96 9 Membrane NA 1 PE2 -NX_Q8IWB6 167901 1497 5.04 17 Cell junction;Cytosol;Cytoplasm;Midbody;Cell membrane;Cytoplasmic vesicle;Kinetochore NA 0 PE1 -NX_Q8IWB7 46324 410 6.99 2 Early endosome NA 0 PE1 -NX_Q8IWB9 125303 1127 5.71 17 Nucleus;Membrane NA 2 PE1 -NX_Q8IWC1 98429 876 9.34 X Spindle;Centrosome NA 0 PE1 -NX_Q8IWD4 30541 279 4.99 22 Nucleus;Cytoskeleton;Cytosol NA 0 PE1 -NX_Q8IWD5 64005 586 8.87 17 Endoplasmic reticulum;Membrane NA 11 PE2 -NX_Q8IWE2 60742 563 4.61 4 Nucleus;Cytoplasm;Golgi apparatus;Cytosol NA 0 PE1 -NX_Q8IWE4 34291 304 5.05 16 Nucleoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_Q8IWE5 112780 1019 4.82 1 Cytoplasm NA 0 PE1 -NX_Q8IWF2 77791 684 7.39 22 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q8IWF6 69575 608 8.52 3 Recycling endosome;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q8IWF7 8761 75 8.85 X NA NA 0 PE5 -NX_Q8IWF9 48851 413 5.33 11 Nucleus;Cell membrane;Cytosol NA 0 PE1 -NX_Q8IWG1 102935 891 5.52 1 NA NA 0 PE1 -NX_Q8IWI9 331836 3026 6.35 15 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8IWJ2 195910 1684 5.1 2 Golgi apparatus;trans-Golgi network membrane;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q8IWK6 146151 1321 8.8 4 Membrane NA 7 PE1 -NX_Q8IWL1 26182 248 5.07 10 Extracellular matrix;Surface film Pulmonary fibrosis, idiopathic 0 PE1 -NX_Q8IWL2 26242 248 4.89 10 Extracellular matrix;Surface film Respiratory distress syndrome in premature infants;Pulmonary fibrosis, idiopathic 0 PE1 -NX_Q8IWL3 27422 235 7.59 22 Cytoplasm;Cytosol;Nucleus;Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q8IWL8 13652 128 4.72 17 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8IWN6 13808 122 9.87 X NA NA 0 PE2 -NX_Q8IWN7 261207 2480 4.38 8 Photoreceptor outer segment;Cilium axoneme Occult macular dystrophy 0 PE1 -NX_Q8IWP9 30367 274 9.32 6 Cytosol NA 0 PE1 -NX_Q8IWQ3 81633 736 8.97 11 Centrosome;Perinuclear region;Endoplasmic reticulum;Golgi apparatus NA 0 PE1 -NX_Q8IWR0 110538 971 7 16 Cytosol;Nucleus NA 0 PE1 -NX_Q8IWR1 47114 403 6.36 3 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8IWS0 41290 365 8.97 X Nucleolus;Nucleus;Nucleolus;Nucleus;Kinetochore Boerjeson-Forssman-Lehmann syndrome 0 PE1 -NX_Q8IWT0 19491 167 4.39 1 Cell membrane NA 0 PE1 -NX_Q8IWT1 24969 228 6.9 11 Cell membrane Atrial fibrillation, familial, 17;Long QT syndrome 10 1 PE1 -NX_Q8IWT3 281229 2517 5.3 6 Cytosol;Cytoplasm NA 0 PE1 -NX_Q8IWT6 94199 810 8.15 9 Cell membrane Agammaglobulinemia 5, autosomal dominant 4 PE1 -NX_Q8IWU2 164900 1503 4.35 7 Nucleus speckle;Membrane;Microtubule organizing center;Cytosol;Cell membrane NA 2 PE1 -NX_Q8IWU4 40755 369 6.11 8 Endoplasmic reticulum;Cell membrane;Secretory vesicle membrane NA 6 PE1 -NX_Q8IWU5 100455 870 9.3 20 Cell surface;Endoplasmic reticulum;Golgi stack NA 0 PE1 -NX_Q8IWU6 101027 871 9.23 8 Endoplasmic reticulum;Golgi stack;Cell surface NA 0 PE1 -NX_Q8IWU9 56057 490 6.03 12 NA Attention deficit-hyperactivity disorder 7;Major depressive disorder 0 PE1 -NX_Q8IWV1 44085 398 4.85 1 Cell membrane;Golgi apparatus;Cell membrane;Cytosol NA 1 PE1 -NX_Q8IWV2 113454 1026 7.24 3 Cell membrane;Secreted NA 0 PE1 -NX_Q8IWV7 200211 1749 5.67 15 Cytoplasmic vesicle;Nucleoplasm;Cytosol Johanson-Blizzard syndrome 0 PE1 -NX_Q8IWV8 200538 1755 5.84 6 Nucleus;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q8IWW6 96254 846 7.29 10 NA NA 0 PE1 -NX_Q8IWW8 50308 467 7.65 8 Mitochondrion;Cytoplasmic vesicle NA 0 PE1 -NX_Q8IWX5 44741 399 9.17 2 Endoplasmic reticulum membrane NA 9 PE2 -NX_Q8IWX7 103733 931 8.03 17 Cytosol;Cytosol Cataract 43 0 PE1 -NX_Q8IWX8 103702 916 9.15 19 Cytoplasm;Perinuclear region;Endoplasmic reticulum NA 0 PE1 -NX_Q8IWY4 107910 988 6.42 22 Cell membrane;Secreted NA 0 PE1 -NX_Q8IWY8 96719 852 6.55 15 Cytoskeleton;Nucleus;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q8IWY9 134120 1227 6.35 15 Cytosol;Cell membrane;Membrane;Nucleus;Cytoplasm Anemia, congenital dyserythropoietic, 1A 2 PE1 -NX_Q8IWZ3 269458 2542 5.46 5 Cytoplasm NA 0 PE1 -NX_Q8IWZ4 24498 208 8.69 11 NA NA 0 PE2 -NX_Q8IWZ5 82745 723 8.3 3 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q8IWZ6 80353 715 5.7 4 Cilium basal body;Centriolar satellite;Cilium membrane;Cytoplasm Bardet-Biedl syndrome 7 0 PE1 -NX_Q8IWZ8 72471 645 7.2 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8IX01 120207 1082 6.92 19 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IX03 125301 1113 5.65 5 Golgi apparatus;Ruffle membrane;Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 -NX_Q8IX04 52264 471 6.61 11 Nucleus;Cytosol NA 0 PE1 -NX_Q8IX05 26183 232 4.45 2 Filopodium;Microvillus;Cell cortex;Membrane NA 1 PE1 -NX_Q8IX06 73855 675 9.33 8 Cytoplasm;Nucleus NA 0 PE5 -NX_Q8IX07 104888 1006 8.14 16 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IX12 132821 1150 5.57 10 Perinuclear region NA 0 PE1 -NX_Q8IX15 61240 550 4.86 14 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q8IX18 88560 779 8.93 17 Nucleus NA 0 PE1 -NX_Q8IX19 21229 187 9.03 19 Membrane NA 1 PE1 -NX_Q8IX21 131873 1173 9.09 10 Cytoplasmic vesicle;Nucleus;Nucleus NA 0 PE1 -NX_Q8IX29 34588 292 10.05 8 Cytosol;Cytoplasmic vesicle;Cell membrane;Nucleoplasm NA 0 PE2 -NX_Q8IX30 109282 993 7.85 6 Secreted;Cell surface NA 0 PE1 -NX_Q8IX90 46359 412 4.99 13 Spindle;Kinetochore;Cell membrane;Cytosol NA 0 PE1 -NX_Q8IX94 87989 777 5.18 7 Membrane NA 1 PE2 -NX_Q8IX95 18015 158 4.85 13 NA NA 0 PE5 -NX_Q8IXA5 23431 215 8.27 17 Secreted;Acrosome membrane NA 1 PE1 -NX_Q8IXB1 91080 793 6.78 2 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q8IXB3 19254 177 7.79 17 Membrane NA 2 PE1 -NX_Q8IXE1 34696 308 7.99 14 Cell membrane NA 7 PE3 -NX_Q8IXF0 100805 933 6.16 14 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8IXF9 31475 295 8.49 2 Membrane NA 6 PE2 -NX_Q8IXH6 23980 220 6.33 20 Cytosol;Nucleus;PML body;Autophagosome NA 0 PE1 -NX_Q8IXH7 66247 590 4.98 20 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Nucleus;Cytosol NA 0 PE1 -NX_Q8IXH8 95278 852 5.62 20 Cell membrane;Cell membrane;Cytoskeleton NA 1 PE1 -NX_Q8IXI1 68118 618 5.55 16 Cytosol;Mitochondrion outer membrane NA 1 PE1 -NX_Q8IXI2 70784 618 5.87 17 Mitochondrion outer membrane NA 1 PE1 -NX_Q8IXJ6 43182 389 5.22 19 Cytosol;Nucleolus;Nucleus;Nucleus;Perinuclear region;Cytoplasm;Cytoskeleton;Centrosome;Centriole;Myelin membrane;Spindle;Midbody;Chromosome;Perikaryon;Cell projection;Growth cone NA 0 PE1 -NX_Q8IXJ9 165448 1541 5.85 20 Nucleus;Nucleus;Nucleolus Bohring-Opitz syndrome;Myelodysplastic syndrome 0 PE1 -NX_Q8IXK0 90713 858 8.93 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IXK2 66938 581 6.35 9 Golgi apparatus membrane Colorectal cancer 1 1 PE1 -NX_Q8IXL6 66234 584 7.65 7 Golgi apparatus;Cytosol;Nucleoplasm;Secreted;Golgi apparatus Raine syndrome 0 PE1 -NX_Q8IXL7 20702 192 7.01 12 Endoplasmic reticulum;Mitochondrion Deafness, autosomal recessive, 74 0 PE1 -NX_Q8IXL9 19627 164 10.57 3 NA NA 0 PE1 -NX_Q8IXM2 17900 172 6.74 17 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IXM3 15383 137 9.59 9 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q8IXM6 29379 262 8.82 6 Nucleus membrane;Nucleus inner membrane NA 6 PE1 -NX_Q8IXM7 31065 274 9.6 15 NA NA 0 PE1 -NX_Q8IXN7 42864 391 6.22 1 Nucleolus;Cytoplasm NA 0 PE1 -NX_Q8IXP5 25393 236 4.7 11 NA NA 0 PE2 -NX_Q8IXQ3 21063 194 4.89 9 Cytoplasm;Centrosome;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8IXQ4 38142 340 5.25 13 Nucleolus;Nucleus NA 0 PE1 -NX_Q8IXQ5 65992 586 6.08 7 Nucleus;Cytosol;Cytoplasm;Nucleoplasm;Nucleus Cold-induced sweating syndrome 3;Retinitis pigmentosa 42 0 PE1 -NX_Q8IXQ6 96343 854 8.12 3 Nucleoplasm;Mitochondrion;Nucleus;Cytosol;Cytosol NA 0 PE1 -NX_Q8IXQ8 29904 264 8.99 16 NA NA 0 PE2 -NX_Q8IXQ9 29461 262 6.05 12 Cytoplasm;Mitochondrion matrix NA 0 PE1 -NX_Q8IXR5 93514 827 5.98 2 Nucleus speckle;Golgi apparatus NA 0 PE2 -NX_Q8IXR9 71046 622 9.33 12 NA NA 0 PE2 -NX_Q8IXS0 57420 508 8.72 6 NA NA 0 PE2 -NX_Q8IXS2 57297 484 6.96 12 Microtubule organizing center;Cytoplasmic vesicle Ciliary dyskinesia, primary, 27 0 PE1 -NX_Q8IXS6 42185 379 5.04 9 Cell membrane;Cell membrane NA 0 PE1 -NX_Q8IXS8 58647 530 8.01 2 Nucleus;Cytosol;Cell membrane;Cell junction NA 0 PE1 -NX_Q8IXT1 111616 998 6.8 11 Cytosol;Nucleus;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8IXT2 39124 367 9.18 19 Nucleus NA 0 PE1 -NX_Q8IXT5 118103 1001 6.34 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IXU6 41212 374 5.86 11 Membrane;Mitochondrion NA 10 PE1 -NX_Q8IXV7 37676 354 8.61 3 Cytoplasm;Cytosol;Midbody Lymphoma, Hodgkin, classic 0 PE1 -NX_Q8IXW0 70379 634 9.12 11 Cytosol NA 0 PE1 -NX_Q8IXW5 69509 612 7.86 1 Cytoplasm;Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q8IXX5 42826 376 9.28 1 Membrane NA 1 PE1 -NX_Q8IXY8 35228 311 6.55 6 Cytosol;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8IXZ2 101941 948 10.95 8 Nucleus;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q8IXZ3 48674 490 9.1 7 Nucleus;Nucleus NA 0 PE1 -NX_Q8IY17 149995 1366 8.02 19 Endoplasmic reticulum membrane Laurence-Moon syndrome;Boucher-Neuhauser syndrome;Oliver-McFarlane syndrome;Spastic paraplegia 39, autosomal recessive 1 PE1 -NX_Q8IY18 128806 1101 8.63 9 Nucleus;Chromosome;Nucleus speckle;PML body;Telomere NA 0 PE1 -NX_Q8IY21 197853 1712 7.53 4 Cytosol;Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q8IY22 86331 773 6.26 16 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8IY26 32194 295 10.03 9 Cytoplasmic vesicle;Membrane;Nucleoplasm NA 4 PE1 -NX_Q8IY31 15281 132 5.07 17 Golgi apparatus;Cytoskeleton;cis-Golgi network;Cilium basal body;Cilium;Centriole NA 0 PE1 -NX_Q8IY33 97502 904 9.63 7 Tight junction;Recycling endosome;Cell projection;Cytoskeleton;Cytosol;Cell membrane NA 0 PE1 -NX_Q8IY34 63560 581 9.27 11 Lysosome membrane;Cytoplasmic vesicle NA 12 PE1 -NX_Q8IY37 129545 1157 8.36 12 Nucleus membrane NA 0 PE1 -NX_Q8IY42 33742 314 4.36 4 Cell junction NA 0 PE1 -NX_Q8IY45 28408 258 8.15 12 Centrosome NA 0 PE1 -NX_Q8IY47 71331 623 5.42 7 Cytoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_Q8IY49 31264 270 8.97 7 Golgi apparatus membrane NA 7 PE1 -NX_Q8IY50 46817 421 9.57 1 Cell membrane;Membrane;Golgi apparatus;Nucleolus NA 10 PE1 -NX_Q8IY51 57468 512 6.05 4 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q8IY57 19901 180 9.74 12 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IY63 106574 956 6.62 11 Cytoskeleton;Cell junction;Cytosol;Tight junction NA 0 PE1 -NX_Q8IY67 63877 606 8.79 19 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8IY81 96558 847 8.53 17 Nucleolus;Nucleolus NA 0 PE1 -NX_Q8IY82 103497 874 5.49 16 Flagellum;Cilium axoneme NA 0 PE1 -NX_Q8IY84 49606 436 8.53 5 Cytosol NA 0 PE1 -NX_Q8IY85 110129 973 6.15 17 NA NA 0 PE2 -NX_Q8IY92 200012 1834 5.74 16 Cytosol;Nucleus;Nucleoplasm;Cell junction Fanconi anemia complementation group P 0 PE1 -NX_Q8IY95 30922 271 8.13 4 Nucleoplasm;Endosome;Lysosome;Lysosome membrane;Late endosome NA 4 PE1 -NX_Q8IYA2 143112 1237 5.51 17 NA NA 0 PE5 -NX_Q8IYA6 83587 745 9.84 2 Spindle;Spindle pole;Cytosol Filippi syndrome 0 PE1 -NX_Q8IYA7 39331 352 9.66 10 Nucleus speckle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IYA8 66343 594 8.55 3 Nucleoplasm;Chromosome NA 0 PE1 -NX_Q8IYB0 21182 196 9.8 11 NA NA 0 PE5 -NX_Q8IYB1 55800 491 6.58 3 Cytosol NA 0 PE1 -NX_Q8IYB3 102335 904 11.84 1 Nucleus;Nucleus speckle;Nucleus speckle;Nucleus matrix NA 0 PE1 -NX_Q8IYB4 69697 626 5.18 3 Membrane;Cytoplasm NA 0 PE1 -NX_Q8IYB5 50386 467 8.92 6 Cytosol;Cell membrane;Cell membrane;Golgi apparatus NA 0 PE1 -NX_Q8IYB7 99279 885 5.74 2 Cytoplasm;P-body Perlman syndrome 0 PE1 -NX_Q8IYB8 87991 786 8.21 10 Nucleus;Mitochondrion matrix;Mitochondrion nucleoid;Mitochondrion NA 0 PE1 -NX_Q8IYB9 74290 648 9.3 4 Nucleus NA 0 PE1 -NX_Q8IYD1 68883 628 5.31 X Cytosol;Cytoplasm NA 0 PE1 -NX_Q8IYD2 38859 350 9.36 1 NA NA 0 PE2 -NX_Q8IYD8 232191 2048 5.76 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IYD9 41811 372 8.43 18 Nucleoplasm;Secreted NA 0 PE1 -NX_Q8IYE0 112806 955 8.59 7 Centriole;Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q8IYE1 80884 715 8.82 3 Centrosome;Centriolar satellite;Cilium basal body NA 0 PE1 -NX_Q8IYF1 83921 753 9.76 18 Nucleus NA 0 PE1 -NX_Q8IYF3 107889 940 5.07 X Chromosome Spermatogenic failure, X-linked, 2 0 PE1 -NX_Q8IYG6 58733 542 8.05 11 NA NA 0 PE2 -NX_Q8IYH5 102023 903 5.48 1 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q8IYI0 22938 205 4.72 20 Golgi apparatus;Cytoplasmic vesicle;Endoplasmic reticulum NA 0 PE2 -NX_Q8IYI6 81799 725 5.35 1 Cytosol;Growth cone;Perinuclear region;Cell projection;Cytoplasm NA 0 PE1 -NX_Q8IYI8 69106 595 9.33 19 Nucleus NA 0 PE1 -NX_Q8IYJ0 30076 282 9.29 12 Nucleoplasm;Membrane NA 1 PE1 -NX_Q8IYJ1 61864 553 5.18 3 NA NA 0 PE1 -NX_Q8IYJ2 63656 551 8.91 10 Mitochondrion;Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q8IYJ3 61857 562 5.32 1 Cell membrane NA 0 PE1 -NX_Q8IYK2 56909 499 9.89 19 NA NA 0 PE1 -NX_Q8IYK4 72924 626 5.82 1 Nucleus;Endoplasmic reticulum lumen;Cytoplasmic vesicle NA 0 PE1 -NX_Q8IYK8 37139 340 8.33 14 Cell membrane NA 0 PE1 -NX_Q8IYL2 84629 757 6.98 4 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q8IYL3 25977 243 6.45 1 Nucleus;Nucleus NA 0 PE1 -NX_Q8IYL9 39333 337 8.12 14 Cytosol;Cell membrane NA 7 PE1 -NX_Q8IYM0 103722 893 9.08 12 NA NA 0 PE1 -NX_Q8IYM1 40748 358 6.67 16 Spindle;Cytoskeleton;Cytoplasm;Cytoskeleton;Nucleus;Flagellum Spermatogenic failure 10 0 PE1 -NX_Q8IYM2 66972 578 8.84 17 NA NA 0 PE1 -NX_Q8IYM9 56947 498 7.97 11 Nucleus;Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle;Cajal body NA 0 PE1 -NX_Q8IYN0 62745 542 9.17 19 Nucleus NA 0 PE1 -NX_Q8IYN2 13616 117 5.32 X Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8IYN6 17877 164 6.78 17 NA NA 0 PE1 -NX_Q8IYP2 27085 241 6.36 7 Secreted NA 0 PE1 -NX_Q8IYP9 45983 409 8.97 3 Nucleus;Membrane NA 6 PE1 -NX_Q8IYQ7 83070 743 6.69 10 Cytosol;Nucleus;Mitochondrion NA 0 PE1 -NX_Q8IYR0 71193 622 6.38 6 Cilium axoneme;Cell junction;Nucleoplasm NA 0 PE1 -NX_Q8IYR2 89225 804 6.39 17 Cytosol;Golgi apparatus;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q8IYR6 40934 380 6.27 9 Cell membrane NA 1 PE1 -NX_Q8IYS0 76035 662 6.81 3 Membrane;Cell membrane;Cytosol NA 1 PE1 -NX_Q8IYS1 47776 436 5.56 6 Nucleoplasm NA 0 PE1 -NX_Q8IYS2 69157 634 8.44 1 Cytosol;Golgi apparatus;Membrane NA 1 PE1 -NX_Q8IYS4 55682 520 4.83 16 Nucleus speckle NA 0 PE1 -NX_Q8IYS5 30481 282 6.09 19 Nucleus;Nucleus membrane;Cell membrane;Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_Q8IYS8 18075 172 5.1 18 Kinetochore;Centrosome NA 0 PE1 -NX_Q8IYT1 63177 594 9.67 1 NA NA 0 PE1 -NX_Q8IYT2 88120 770 6.57 16 Nucleus speckle;Nucleus;Cytoplasm;Cell junction NA 0 PE1 -NX_Q8IYT3 82277 715 6.22 6 Cell junction;Golgi apparatus NA 0 PE1 -NX_Q8IYT4 61253 538 7.22 18 Nucleoplasm;Cytoskeleton;Cytoskeleton;Cytoplasm;Spindle;Spindle pole NA 0 PE1 -NX_Q8IYT8 112694 1036 8.84 17 Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q8IYU2 102342 909 5.58 6 Endoplasmic reticulum;Endoplasmic reticulum;Cytoplasm;Golgi stack membrane Spastic paraplegia and psychomotor retardation with or without seizures 0 PE1 -NX_Q8IYU4 52897 475 5.67 11 NA NA 0 PE1 -NX_Q8IYU8 49666 434 9.17 13 Mitochondrion;Mitochondrion intermembrane space;Nucleus NA 0 PE1 -NX_Q8IYV9 38930 350 6.11 19 Cell membrane NA 1 PE1 -NX_Q8IYW2 303500 2715 7.07 10 Cilium axoneme NA 0 PE1 -NX_Q8IYW4 67538 607 6.16 22 NA NA 0 PE1 -NX_Q8IYW5 65020 571 8.26 3 Nucleus;Nucleoplasm;Nucleus Riddle syndrome 0 PE1 -NX_Q8IYX0 47179 411 9.17 7 Nucleus NA 0 PE1 -NX_Q8IYX1 39221 336 5.81 15 Acrosome;Cytoskeleton NA 0 PE1 -NX_Q8IYX3 56940 515 9.7 22 Centrosome NA 0 PE1 -NX_Q8IYX4 38687 353 9.74 5 Nucleus;Cytoplasm NA 0 PE1 -NX_Q8IYX7 54621 474 8.68 9 Centriole;Cilium axoneme;Centrosome;Flagellum axoneme;Cilium basal body NA 0 PE1 -NX_Q8IYX8 53649 460 8.82 6 Cell membrane;Centrosome;Cytosol NA 0 PE1 -NX_Q8IYY4 86848 767 6.85 3 Cytoskeleton;Nucleoplasm;Centriole;Cilium basal body;Cytoskeleton Polycystic kidney disease 5 0 PE1 -NX_Q8IZ02 46384 419 6.07 3 Cytoskeleton;Nucleus;Cytoskeleton;Cell junction;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q8IZ07 67619 590 4.93 12 Late endosome;Cell membrane;Cell membrane NA 0 PE1 -NX_Q8IZ08 51736 494 9.88 14 Cell membrane NA 7 PE2 -NX_Q8IZ13 68327 594 5.98 5 Nucleoplasm NA 0 PE1 -NX_Q8IZ16 23862 206 10.41 7 Cytoplasmic vesicle NA 0 PE1 -NX_Q8IZ20 56905 524 9.01 1 Nucleus NA 0 PE1 -NX_Q8IZ21 78211 702 6.2 1 Cytoplasm;Cytoskeleton;Cytosol;Cell membrane;Lamellipodium NA 0 PE1 -NX_Q8IZ26 64038 560 9.05 8 Nucleus;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8IZ40 58012 523 9.08 11 Midbody;Nucleus;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q8IZ41 82879 740 4.99 9 Cytoskeleton;Perinuclear region NA 0 PE1 -NX_Q8IZ52 85467 775 6.45 2 Centrosome;Cytoplasmic vesicle;Cytosol;Golgi stack membrane;Cytosol;Mitochondrion matrix;Mitochondrion NA 1 PE1 -NX_Q8IZ57 21475 195 7.61 6 Membrane;Nucleus;Cytoplasmic vesicle NA 2 PE1 -NX_Q8IZ63 43980 422 4.97 19 Nucleus;Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_Q8IZ69 68726 625 8.21 22 Cytosol;Nucleus NA 0 PE1 -NX_Q8IZ73 61311 545 6.72 15 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q8IZ81 34961 293 8.12 4 Nucleolus;Nucleus;Cytosol NA 0 PE1 -NX_Q8IZ83 85127 802 6.35 19 Mitochondrion NA 0 PE1 -NX_Q8IZ96 18576 169 6.5 16 Nucleoplasm;Membrane NA 4 PE1 -NX_Q8IZA0 115658 1049 5.71 1 Golgi apparatus;Nucleolus;Cell membrane;trans-Golgi network membrane;Golgi apparatus membrane;Cytoplasmic granule membrane NA 2 PE1 -NX_Q8IZA3 35813 346 11.27 3 Cytoplasm;Nucleus;Chromosome NA 0 PE2 -NX_Q8IZC4 69304 609 8.03 10 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q8IZC6 186892 1860 9.83 9 Extracellular matrix Steel syndrome 0 PE1 -NX_Q8IZC7 50339 436 9.67 19 Nucleus NA 0 PE1 -NX_Q8IZD0 45056 417 9.41 17 Nucleus;Nucleolus NA 0 PE1 -NX_Q8IZD2 204965 1858 7.41 7 Cell membrane;Cytoplasm;Nucleus speckle NA 0 PE1 -NX_Q8IZD4 67723 617 8.75 12 Cytoplasm;Nucleus;Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_Q8IZD6 60540 547 5.41 1 Membrane;Cytoplasmic vesicle NA 12 PE1 -NX_Q8IZD9 233103 2030 6.52 3 Cytoplasm;Cytosol NA 0 PE1 -NX_Q8IZE3 82857 742 4.96 1 Golgi apparatus;Nucleus;Cytoskeleton;Cytoplasm;Golgi apparatus;Lamellipodium NA 0 PE1 -NX_Q8IZF0 200331 1738 8.93 13 Membrane Hypotonia, infantile, with psychomotor retardation and characteristic facies 1;Congenital contractures of the limbs and face, hypotonia, and developmental delay 24 PE1 -NX_Q8IZF2 149457 1346 6.23 6 Cell membrane NA 7 PE1 -NX_Q8IZF3 77719 695 9.23 6 Mitochondrion;Membrane NA 7 PE1 -NX_Q8IZF4 59000 528 8.69 16 Cytoplasmic vesicle;Nucleus membrane;Nucleoplasm;Cell membrane NA 7 PE1 -NX_Q8IZF5 116341 1079 7.44 2 Membrane NA 7 PE2 -NX_Q8IZF6 333368 3080 5.82 X Membrane NA 7 PE2 -NX_Q8IZF7 78569 708 8.45 6 Membrane NA 7 PE2 -NX_Q8IZH2 194107 1706 6.78 3 Cytoplasm;Cell membrane;Cytosol NA 0 PE1 -NX_Q8IZI9 21706 196 8.69 19 Secreted NA 0 PE1 -NX_Q8IZJ0 22288 200 8.15 19 Secreted NA 0 PE2 -NX_Q8IZJ1 103638 945 5.68 10 Cell membrane;Membrane raft NA 1 PE1 -NX_Q8IZJ3 206702 1885 6 19 Cell membrane;Secreted;Focal adhesion Anterior segment dysgenesis 8 0 PE1 -NX_Q8IZJ4 52346 473 8.17 22 Cytoplasmic vesicle NA 0 PE2 -NX_Q8IZJ6 25407 230 9.58 8 Mitochondrion NA 0 PE2 -NX_Q8IZK6 65942 566 7.73 1 Cell membrane;Cytoskeleton;Late endosome membrane;Lysosome membrane;Recycling endosome membrane NA 6 PE1 -NX_Q8IZL2 125197 1156 9.45 11 Nucleus;Nucleus speckle;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8IZL8 119700 1130 4.29 17 Nucleus;Nucleolus;Nucleus;Nucleolus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q8IZL9 38695 346 6.27 9 Nucleoplasm;Cilium;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8IZM0 9081 81 11.39 4 NA NA 0 PE5 -NX_Q8IZM8 65854 581 5.36 3 Nucleus;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q8IZM9 50929 456 8.02 14 Cytoskeleton;Cell membrane;Cell junction;Cell membrane NA 11 PE1 -NX_Q8IZN3 53388 488 8.59 6 Mitochondrion;Nucleolus;Membrane NA 4 PE1 -NX_Q8IZN7 7846 70 9.45 8 Secreted NA 0 PE2 -NX_Q8IZP0 55081 508 6.57 10 Cell membrane;Cell junction;Cytoplasm;Nucleus;Lamellipodium;Filopodium;Growth cone;Postsynaptic density;Cytoskeleton NA 0 PE1 -NX_Q8IZP1 62187 549 9.24 17 Cell membrane;Cell membrane NA 0 PE1 -NX_Q8IZP2 27407 240 5.01 13 Cytoplasm NA 0 PE5 -NX_Q8IZP6 36259 322 7.54 13 NA NA 0 PE1 -NX_Q8IZP7 54844 471 6.39 13 Nucleolus;Nucleus;Membrane NA 1 PE1 -NX_Q8IZP9 111593 1017 7.66 X Cell membrane;Cytosol;Apical cell membrane Congenital bilateral aplasia of the vas deferens, X-linked 7 PE1 -NX_Q8IZQ1 395258 3526 6.3 4 Cytosol;Nucleus membrane;Nucleolus;Cell membrane;PML body;Membrane;Cytosol;Perikaryon;Axon Microcephaly 18, primary, autosomal dominant 0 PE1 -NX_Q8IZQ5 13453 122 9.76 11 Nucleus;Nucleolus NA 0 PE1 -NX_Q8IZQ8 101997 938 6.17 17 Nucleus NA 0 PE1 -NX_Q8IZR5 25828 234 7.65 16 Golgi apparatus;Cytoplasmic vesicle;Cell membrane;Membrane NA 4 PE1 -NX_Q8IZS5 26754 231 5.89 6 NA NA 0 PE1 -NX_Q8IZS6 23176 198 9.34 6 Cytoskeleton;Cytoplasmic granule;Membrane NA 0 PE1 -NX_Q8IZS7 19115 167 9.44 12 Cell membrane NA 1 PE2 -NX_Q8IZS8 123011 1091 5.53 3 Membrane;Nucleus;Cytosol NA 1 PE1 -NX_Q8IZT6 409800 3477 10.45 1 Cytosol;Cytoplasm;Spindle;Nucleus;Cell membrane Microcephaly 5, primary, autosomal recessive 0 PE1 -NX_Q8IZT8 40408 346 9.8 6 Golgi apparatus membrane NA 1 PE1 -NX_Q8IZT9 19210 166 5.16 X Nucleus NA 0 PE1 -NX_Q8IZU0 22438 186 5.31 X Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8IZU1 37339 332 4.82 X Nucleolus NA 0 PE1 -NX_Q8IZU2 147703 1322 6.01 4 Nucleus speckle NA 0 PE1 -NX_Q8IZU3 27729 236 9.22 12 Nucleus;Chromosome;Centromere Spermatogenic failure 4;Pregnancy loss, recurrent, 4 0 PE1 -NX_Q8IZU8 139238 1212 8.48 18 Cell membrane;Nucleoplasm;Membrane NA 2 PE1 -NX_Q8IZU9 85255 778 6.46 11 Cell membrane;Secreted Mental retardation, autosomal dominant 4 1 PE1 -NX_Q8IZV2 19572 173 6.06 3 Nucleoplasm;Membrane;Cytoplasm;Nucleus NA 4 PE1 -NX_Q8IZV5 38087 341 7.11 8 Endoplasmic reticulum membrane;Microsome membrane;Lipid droplet NA 1 PE1 -NX_Q8IZW8 76764 715 7.01 17 Focal adhesion;Cytoskeleton NA 0 PE1 -NX_Q8IZX4 207302 1826 5.26 9 Nucleus NA 0 PE1 -NX_Q8IZY2 234350 2146 6.85 19 Golgi apparatus;Cell junction;Cell membrane;Golgi apparatus membrane;Early endosome membrane;Cell membrane Alzheimer disease 9 15 PE1 -NX_Q8IZY5 12045 108 6.73 11 Cytoplasm;Mitochondrion NA 0 PE1 -NX_Q8J025 58797 514 8.43 18 Cell membrane Hypotrichosis 1 1 PE1 -NX_Q8MH63 18779 180 6.72 16 Membrane NA 3 PE5 -NX_Q8N0S2 39699 351 5.89 10 Nucleus;Cytosol;Nucleoplasm;Chromosome Spermatogenic failure, 15;Premature ovarian failure 12 0 PE1 -NX_Q8N0S6 38998 344 6.08 1 Nucleus;Centromere NA 0 PE1 -NX_Q8N0T1 11456 100 10.46 8 Mitochondrion;Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q8N0U2 22170 210 4.54 1 Membrane NA 2 PE2 -NX_Q8N0U4 42301 392 8.22 7 Cytosol NA 0 PE1 -NX_Q8N0U6 13361 118 4.89 6 NA NA 0 PE5 -NX_Q8N0U7 62035 546 8.82 1 NA NA 0 PE1 -NX_Q8N0U8 19836 176 9.28 7 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 4 PE1 -NX_Q8N0V1 14971 137 9.08 21 NA NA 0 PE5 -NX_Q8N0V3 38359 343 8.01 18 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q8N0V4 62298 545 6.47 4 Secreted;Centrosome NA 0 PE1 -NX_Q8N0V5 45873 402 6.73 6 Golgi apparatus;Golgi apparatus membrane;Golgi apparatus Cataract 13, with adult i phenotype 1 PE1 -NX_Q8N0W3 117623 1084 5.84 16 Cytoplasmic vesicle NA 0 PE1 -NX_Q8N0W4 91915 816 5.78 X Cell membrane;Postsynaptic density Autism, X-linked 2;Asperger syndrome, X-linked, 2 1 PE1 -NX_Q8N0W5 33292 287 8.49 16 Nucleolus;Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q8N0W7 29241 255 9.19 X Membrane NA 2 PE1 -NX_Q8N0X2 70818 631 5.9 2 Cell membrane;Cytoplasm;Cytosol;Flagellum axoneme;Cilium axoneme NA 0 PE1 -NX_Q8N0X4 37359 340 8.88 13 Cytosol;Mitochondrion NA 0 PE1 -NX_Q8N0X7 72833 666 5.66 13 Cytoplasm;Midbody;Cytosol;Cytoplasm;Cell membrane Spastic paraplegia 20, autosomal recessive 0 PE1 -NX_Q8N0Y2 35204 327 8.9 19 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q8N0Y3 35724 316 9.03 15 Centrosome;Cell membrane NA 7 PE2 -NX_Q8N0Y5 34661 310 8.56 11 Cell membrane NA 7 PE2 -NX_Q8N0Y7 28777 254 6.19 X NA NA 0 PE1 -NX_Q8N0Z2 43117 381 8.7 8 Sarcomere;Cytoskeleton NA 0 PE1 -NX_Q8N0Z3 96264 855 7.03 3 Centriole;Spindle;Centrosome NA 0 PE1 -NX_Q8N0Z6 48928 440 6.05 14 Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q8N0Z8 33233 303 9.89 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q8N0Z9 59217 540 4.62 12 Cell membrane;Cytosol;Membrane NA 1 PE1 -NX_Q8N100 16871 152 9.61 10 Nucleus Persistent hyperplastic primary vitreous, autosomal recessive 0 PE1 -NX_Q8N103 80703 731 6.04 6 NA NA 0 PE1 -NX_Q8N104 7369 65 8.96 8 Secreted;Membrane NA 0 PE1 -NX_Q8N108 57983 512 4.34 1 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8N109 40678 375 8.36 19 Cell membrane NA 1 PE3 -NX_Q8N111 14954 149 9.24 11 Mitochondrion;Membrane NA 1 PE1 -NX_Q8N112 17868 164 5.69 3 Membrane NA 1 PE1 -NX_Q8N114 25582 240 6.26 3 Nucleus membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8N118 58875 509 8.74 1 Microsome membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8N119 65043 569 9.19 10 Secreted Heterotaxy, visceral, 7, autosomal 0 PE2 -NX_Q8N122 149038 1335 6.43 17 Lysosome;Cytoplasmic granule;Cytosol;Nucleoplasm;Cytoplasm;Lysosome NA 0 PE1 -NX_Q8N123 34727 301 8.9 X NA NA 0 PE2 -NX_Q8N126 43300 398 5.71 1 Cell membrane;Cell junction NA 1 PE1 -NX_Q8N127 36653 324 8.63 11 Cell membrane NA 7 PE3 -NX_Q8N128 23757 213 4.4 14 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q8N129 28310 248 4.6 7 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q8N130 63550 599 8.62 9 Membrane Hereditary hypophosphatemic rickets with hypercalciuria 8 PE1 -NX_Q8N131 21531 208 8.76 11 Membrane;Cytosol;Cell membrane NA 1 PE1 -NX_Q8N135 59141 537 7.28 19 Secreted;Golgi apparatus NA 0 PE1 -NX_Q8N136 45777 415 6.12 2 Nucleoplasm;Cilium;Nucleus NA 0 PE1 -NX_Q8N137 101253 903 5.41 17 Cytosol;Centrosome;Centriole NA 0 PE1 -NX_Q8N138 17495 153 9.64 17 Endoplasmic reticulum membrane Asthma 2 PE1 -NX_Q8N139 184286 1617 7.05 17 Nucleoplasm;Membrane NA 14 PE1 -NX_Q8N140 38168 333 5.03 12 Nucleolus;Cytoplasm;Nucleus;Nucleus;Telomere NA 0 PE1 -NX_Q8N141 62578 532 9.2 19 Nucleus;Nucleus NA 0 PE1 -NX_Q8N142 50208 457 8.76 14 Cytoplasm Myopathy, distal, 5 0 PE1 -NX_Q8N143 51531 479 9.23 17 Nucleus NA 0 PE1 -NX_Q8N144 31933 294 8.94 17 Gap junction;Cell membrane NA 4 PE1 -NX_Q8N145 61704 548 8.15 8 Secreted;Synaptic vesicle;Synaptosome;Cytosol NA 0 PE1 -NX_Q8N146 35219 312 8.53 11 Cell membrane NA 7 PE3 -NX_Q8N148 34902 313 8.32 7 Cell membrane NA 7 PE2 -NX_Q8N149 52992 483 6.43 19 Cell membrane;Secreted NA 1 PE1 -NX_Q8N157 137115 1196 6.67 6 Cytoplasm;Centrosome;Cilium basal body;Adherens junction;Centriole Joubert syndrome 3 0 PE1 -NX_Q8N158 62830 579 8.33 7 Endoplasmic reticulum;Nucleolus;Nucleus;Cell membrane;Extracellular space;Golgi apparatus NA 0 PE1 -NX_Q8N159 58156 534 9.12 17 Mitochondrion matrix;Mitochondrion N-acetylglutamate synthase deficiency 0 PE1 -NX_Q8N162 35422 312 9.03 11 Cell membrane NA 7 PE3 -NX_Q8N163 102902 923 5.14 8 Nucleus;Nucleoplasm;Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8N165 38546 341 6.42 1 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8N183 19856 169 8.94 5 Mitochondrion;Mitochondrion;Mitochondrion Mitochondrial complex I deficiency;Leigh syndrome 0 PE1 -NX_Q8N184 75164 647 9.3 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q8N187 80698 725 5.47 2 Nucleus;Cytoskeleton;Nucleolus;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q8N196 74562 739 4.93 19 Nucleus;Cytoplasm Branchiootorenal syndrome 2 0 PE1 -NX_Q8N1A0 34158 295 5.63 17 Cytoplasmic vesicle;Lipid droplet NA 0 PE1 -NX_Q8N1A6 23468 199 5.27 4 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8N1B3 28369 248 5.84 X Nucleus;Cytoplasm Toe syndactyly, telecanthus, and anogenital and renal malformations 0 PE1 -NX_Q8N1B4 82221 723 5.7 6 Recycling endosome;Endosome membrane;trans-Golgi network membrane NA 0 PE1 -NX_Q8N1C3 53595 465 8.39 4 Cell membrane;Postsynaptic cell membrane NA 4 PE2 -NX_Q8N1D0 27061 253 9.87 11 Nucleus;Nucleoplasm NA 0 PE2 -NX_Q8N1D5 23067 194 9.73 1 Cytosol NA 0 PE1 -NX_Q8N1E2 21431 194 8.47 2 Secreted NA 0 PE2 -NX_Q8N1E6 45886 418 9.15 12 Nucleoplasm;Cytosol;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q8N1F1 13824 130 9.49 17 Mitochondrion NA 0 PE5 -NX_Q8N1F7 93488 819 5.5 16 Nucleus membrane;Nucleus;Nucleus membrane;Nuclear pore complex;Nucleus envelope Nephrotic syndrome 12 0 PE1 -NX_Q8N1F8 121401 1099 5.26 2 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q8N1G0 129529 1237 8.56 1 Cytoplasm;Nucleoplasm;Nucleus Paget disease of bone 6 0 PE1 -NX_Q8N1G1 131510 1221 9.12 19 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N1G2 95321 835 6.64 6 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q8N1G4 63473 583 8.55 1 Nucleolus NA 0 PE1 -NX_Q8N1H7 68166 587 5.39 14 Chromosome;Nucleolus;Nucleus NA 0 PE1 -NX_Q8N1I0 225206 1966 7.57 7 Cytosol;Cell membrane;Cytosol;Cell projection;Cell membrane;Golgi apparatus;Nucleolus NA 0 PE1 -NX_Q8N1I8 22698 211 6.31 19 NA NA 0 PE2 -NX_Q8N1K5 73452 641 5.62 6 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8N1L1 18115 170 6.03 22 NA NA 0 PE5 -NX_Q8N1L4 40159 340 9.25 1 Membrane NA 1 PE5 -NX_Q8N1L9 29398 274 7.2 11 Nucleolus;Nucleus NA 0 PE1 -NX_Q8N1M1 76107 668 6.13 12 Cytoplasm;Cell membrane;Cell membrane NA 4 PE2 -NX_Q8N1N0 65519 589 6.23 2 Membrane NA 1 PE2 -NX_Q8N1N2 22529 210 5.27 18 Cell membrane;Golgi apparatus membrane NA 1 PE1 -NX_Q8N1N4 56866 520 5.79 12 NA NA 0 PE1 -NX_Q8N1N5 48076 446 8.42 4 Nucleus;Membrane;Cytoplasm NA 0 PE1 -NX_Q8N1P7 68646 616 4.99 1 Nucleoplasm NA 0 PE1 -NX_Q8N1Q1 29443 262 6.45 8 Nucleolus;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q8N1Q8 27677 247 7.61 1 Mitochondrion matrix NA 0 PE1 -NX_Q8N1S5 35396 342 5.44 17 Cytoplasm;Cell membrane;Golgi apparatus;Nucleus;Nucleoplasm NA 7 PE1 -NX_Q8N1T3 119037 1032 9.19 12 NA NA 0 PE1 -NX_Q8N1V2 68298 620 6.51 17 Cytoplasm;Flagellum NA 0 PE1 -NX_Q8N1V8 13299 128 7.66 10 NA NA 0 PE2 -NX_Q8N1W1 191891 1705 5.69 5 Cell membrane;Cytoplasm;Cytosol;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q8N1W2 74461 664 6.33 15 Nucleoplasm;Nucleus;Mitochondrion NA 0 PE1 -NX_Q8N1X5 16487 172 12.11 6 NA NA 0 PE2 -NX_Q8N1Y9 24915 231 6.89 9 Membrane NA 1 PE5 -NX_Q8N201 244297 2190 5.77 7 Nucleoplasm;Nucleus membrane NA 1 PE1 -NX_Q8N205 43512 404 5.48 19 Nucleus outer membrane Deafness, autosomal recessive, 76 1 PE1 -NX_Q8N228 45023 414 9.78 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N239 70612 644 5.41 X NA NA 0 PE2 -NX_Q8N257 13908 126 10.31 1 Chromosome;Nucleus NA 0 PE1 -NX_Q8N264 84258 748 6.24 4 Cytoskeleton;Cell membrane;Adherens junction;Cytoskeleton;Focal adhesion;Cell projection;Cytosol NA 0 PE1 -NX_Q8N268 14459 126 9.37 20 NA NA 0 PE2 -NX_Q8N271 91883 834 5.8 2 Basolateral cell membrane;Apical cell membrane;Cell junction;Cell membrane;Microvillus membrane;Cilium membrane;Nucleoplasm NA 5 PE1 -NX_Q8N283 109966 1001 5.76 1 Cell membrane NA 0 PE1 -NX_Q8N292 17883 157 8.67 5 Cell membrane NA 1 PE1 -NX_Q8N2A0 18329 174 6.74 X NA NA 0 PE5 -NX_Q8N2A8 28273 252 9.53 17 Mitochondrion outer membrane NA 1 PE1 -NX_Q8N2B8 19079 174 11.57 2 NA NA 0 PE2 -NX_Q8N2C3 33694 294 6.71 12 Cytoskeleton NA 0 PE2 -NX_Q8N2C7 363390 3258 6.4 2 Membrane;Cytoplasmic vesicle Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 4 PE1 -NX_Q8N2C9 18019 162 7.18 21 NA NA 0 PE2 -NX_Q8N2E2 176780 1590 5.42 7 Secreted;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8N2E6 26262 242 10.17 9 Secreted NA 0 PE1 -NX_Q8N2F6 37540 343 6.16 7 Mitochondrion;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8N2G4 15240 141 8.4 2 Endoplasmic reticulum;Cell membrane NA 0 PE1 -NX_Q8N2G6 26955 241 8.97 10 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q8N2G8 57523 530 8.05 17 Endoplasmic reticulum;Nucleus envelope NA 0 PE1 -NX_Q8N2H3 63068 581 6.47 10 Mitochondrion NA 0 PE1 -NX_Q8N2H4 17615 156 7.62 20 Golgi apparatus membrane NA 4 PE1 -NX_Q8N2H9 50755 469 7.24 11 Nucleolus;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q8N2I2 63322 560 8.72 3 Nucleoplasm;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q8N2I9 49001 435 8.04 1 Nucleus;Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8N2K0 45097 398 8.87 20 Membrane Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 1 PE1 -NX_Q8N2K1 28898 259 8.6 1 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8N2M4 26398 240 8.92 11 Membrane NA 7 PE2 -NX_Q8N2M8 77161 674 10.44 19 Nucleus;Nucleus NA 0 PE1 -NX_Q8N2N9 153582 1353 9.01 2 NA NA 0 PE1 -NX_Q8N2Q7 93835 840 5.79 3 Cell membrane;Cell membrane;Postsynaptic density;Nucleus;Synapse NA 1 PE1 -NX_Q8N2R0 35513 312 9.66 8 Nucleus;Nucleus;Cell membrane NA 0 PE1 -NX_Q8N2R8 45776 423 6.1 3 Cytoplasmic vesicle NA 0 PE1 -NX_Q8N2S1 173435 1624 5.27 19 Extracellular matrix Duchenne muscular dystrophy;Urban-Rifkin-Davis syndrome 0 PE1 -NX_Q8N2U0 11742 113 9.1 17 Membrane;Cytoplasmic vesicle NA 2 PE1 -NX_Q8N2U9 30478 271 8.34 18 Membrane;Nucleoplasm NA 6 PE1 -NX_Q8N2W9 56504 510 5.84 19 PML body;Nucleoplasm NA 0 PE1 -NX_Q8N2X6 12661 119 11.04 5 Secreted NA 0 PE1 -NX_Q8N2Y8 161225 1516 6.17 9 Cytosol NA 0 PE1 -NX_Q8N2Z9 15893 138 5.83 1 Nucleus;Centromere;Kinetochore NA 0 PE1 -NX_Q8N300 7808 66 9.21 1 Nucleus;Secreted;Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q8N302 80977 714 5.29 5 Secreted;Cytoplasm Klippel-Trenaunay syndrome 0 PE1 -NX_Q8N307 71982 709 4.95 3 Cytosol;Nucleoplasm;Cell membrane;Secreted;Apical cell membrane;Basolateral cell membrane;Microvillus membrane NA 0 PE1 -NX_Q8N309 73022 656 5.17 12 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q8N319 26113 242 12.2 6 Nucleolus NA 0 PE2 -NX_Q8N323 63178 547 8.78 11 Secreted NA 0 PE1 -NX_Q8N326 17766 155 10.01 10 Membrane NA 1 PE1 -NX_Q8N328 67595 593 7.81 10 Nucleus NA 0 PE1 -NX_Q8N335 38419 351 6.61 3 Cytoplasm Sudden infant death syndrome;Brugada syndrome 2 0 PE1 -NX_Q8N336 39052 334 8.78 11 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8N339 6110 61 8.05 16 NA NA 0 PE1 -NX_Q8N344 59944 545 4.53 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N349 35634 312 9.09 1 Cell membrane NA 7 PE2 -NX_Q8N350 73929 705 5.96 19 Synaptic vesicle membrane;Nucleoplasm;Cell membrane;Growth cone NA 1 PE1 -NX_Q8N357 40214 371 6.44 2 Endosome;Nucleoplasm;Cytosol;Cytoplasmic vesicle;Mitochondrion;Lysosome membrane NA 9 PE1 -NX_Q8N365 41443 385 9.49 1 Nucleus;Nucleoplasm;PML body NA 0 PE1 -NX_Q8N370 62747 569 8.25 17 Cell membrane;Golgi apparatus;Membrane NA 12 PE1 -NX_Q8N371 47270 416 5.51 16 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N377 15598 158 7.64 10 NA NA 0 PE5 -NX_Q8N386 33179 305 4.88 19 Membrane NA 1 PE1 -NX_Q8N387 36294 334 4.93 11 Cell membrane;Secreted NA 1 PE1 -NX_Q8N392 74977 663 6.1 6 Cytoplasm;Cytoplasm;Nucleus speckle;Cell membrane;Cytosol NA 0 PE1 -NX_Q8N393 89815 782 9.39 7 Nucleus;Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q8N394 94130 836 8.94 12 Endoplasmic reticulum;Cytosol;Cytoskeleton;Membrane NA 10 PE1 -NX_Q8N398 132764 1253 6.02 3 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8N3A8 95871 854 8.58 5 Cytoplasm;Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8N3C0 251460 2202 6.64 6 Nucleus;Cytoplasm;Nucleus;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q8N3C7 76317 705 8.93 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q8N3D4 161854 1523 4.8 11 Nucleolus;Endosome;Cell membrane;Cytosol NA 0 PE1 -NX_Q8N3E9 89258 789 6.52 17 Membrane;Cytoplasm;Cleavage furrow;Cell membrane NA 0 PE1 -NX_Q8N3F0 14925 131 4.03 7 Cytosol NA 0 PE1 -NX_Q8N3F8 93441 863 6.88 22 Late endosome membrane;Recycling endosome membrane;Cell junction;Cytosol;Microtubule organizing center NA 0 PE1 -NX_Q8N3F9 47075 429 7.16 14 Membrane;Cytoplasmic vesicle NA 7 PE1 -NX_Q8N3G9 48329 435 6.07 7 Golgi apparatus membrane;Golgi apparatus;Golgi apparatus;Endoplasmic reticulum NA 1 PE1 -NX_Q8N3H0 14620 131 9.46 12 Cytoplasm NA 0 PE1 -NX_Q8N3I7 38755 341 5.39 2 Nucleus;Cytoplasm;Cilium membrane;Cytoplasm;Cilium basal body;Centriolar satellite Bardet-Biedl syndrome 5 0 PE1 -NX_Q8N3J2 54041 472 6.39 18 Mitochondrion NA 0 PE1 -NX_Q8N3J3 69771 647 5.85 17 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8N3J5 40997 372 6.27 4 Mitochondrion;Mitochondrion matrix;Mitochondrion Maple syrup urine disease, mild variant 0 PE1 -NX_Q8N3J6 47554 435 5.17 3 Axon;Cell membrane;Cell membrane;Synapse NA 1 PE1 -NX_Q8N3J9 30284 261 9.03 12 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N3K9 449211 4069 4.73 5 M line;Cytoplasm;Perinuclear region NA 0 PE1 -NX_Q8N3L3 76519 684 4.9 6 NA NA 0 PE1 -NX_Q8N3P4 161754 1428 5.41 3 Early endosome;Cytosol;Cell membrane NA 0 PE1 -NX_Q8N3R3 57925 496 8.9 3 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q8N3R9 77294 675 5.77 14 Cytoplasm;Cell membrane;Endomembrane system;Cytosol;Nucleoplasm;Tight junction;Cell membrane NA 0 PE1 -NX_Q8N3S3 88757 785 9.09 7 Endoplasmic reticulum;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8N3T1 73063 639 6.44 3 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q8N3T6 121787 1108 5.95 12 Centrosome;Membrane;Cytosol NA 1 PE1 -NX_Q8N3U1 12695 123 5.54 19 NA NA 0 PE2 -NX_Q8N3U4 141326 1231 5.27 X Nucleus;Chromosome;Centromere NA 0 PE1 -NX_Q8N3V7 99463 929 8.92 5 Cytoskeleton;Cytoskeleton;Cytoskeleton;Nucleoplasm;Cytosol;Tight junction;Perikaryon;Dendritic spine;Postsynaptic density;Synapse NA 0 PE1 -NX_Q8N3X1 110266 1017 4.68 11 Nucleus speckle NA 0 PE1 -NX_Q8N3X6 66964 602 8.2 4 Nucleus membrane;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8N3Y1 67394 598 5.42 12 Perinuclear region;Golgi apparatus;Cytosol NA 0 PE1 -NX_Q8N3Y3 81787 721 7.69 11 Golgi apparatus membrane NA 1 PE1 -NX_Q8N3Y7 34095 309 8.72 8 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q8N3Z0 47098 413 9.72 6 Secreted NA 0 PE1 -NX_Q8N3Z3 32147 284 9.47 3 Mitochondrion NA 0 PE1 -NX_Q8N3Z6 63052 543 7.03 9 Cytosol;Nucleolus;Nucleolus NA 0 PE1 -NX_Q8N402 26933 240 4.58 22 NA NA 0 PE2 -NX_Q8N412 50660 459 9.6 4 NA NA 0 PE2 -NX_Q8N413 31906 288 9.32 11 Cytosol;Nucleoplasm;Mitochondrion inner membrane NA 6 PE2 -NX_Q8N414 58464 524 9.03 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N423 65039 598 6.79 19 Membrane NA 1 PE1 -NX_Q8N427 67270 588 4.9 7 Cytoplasm Ciliary dyskinesia, primary, 6 0 PE1 -NX_Q8N428 63074 558 9.28 14 Nucleus;Golgi apparatus membrane NA 1 PE1 -NX_Q8N431 52870 466 7.58 5 Mitochondrion NA 0 PE2 -NX_Q8N434 53991 492 9.07 7 Membrane NA 10 PE2 -NX_Q8N436 85870 756 6.4 10 Secreted NA 0 PE1 -NX_Q8N441 54537 504 9.79 4 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q8N442 74328 669 8.75 4 Mitochondrion;Mitochondrion inner membrane;Nucleus Epileptic encephalopathy, early infantile, 40 0 PE1 -NX_Q8N443 44015 379 8.92 X Nucleus NA 0 PE1 -NX_Q8N446 37065 348 9.85 16 NA NA 0 PE1 -NX_Q8N448 76004 690 6.17 13 Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q8N456 29737 261 9.83 10 Cytoplasm NA 0 PE1 -NX_Q8N461 51658 479 6.09 16 NA NA 0 PE1 -NX_Q8N465 56416 521 8.21 2 Mitochondrion D-2-hydroxyglutaric aciduria 1 0 PE1 -NX_Q8N468 56265 514 8.67 1 Endosome;Membrane NA 12 PE1 -NX_Q8N474 35386 314 9.1 8 Nucleolus;Cytosol;Secreted NA 0 PE1 -NX_Q8N475 95751 847 5.61 4 Secreted NA 0 PE1 -NX_Q8N485 31891 282 5.37 5 NA NA 0 PE2 -NX_Q8N488 24822 228 9.66 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8N490 42876 385 9.22 2 Mitochondrion;Membrane;Cytoplasm;Nucleus;Mitochondrion Dystonia 8 0 PE1 -NX_Q8N4A0 66666 578 7.55 12 Golgi apparatus;Golgi apparatus membrane NA 1 PE1 -NX_Q8N4B1 27215 249 9.18 12 Clathrin-coated vesicle;trans-Golgi network;Recycling endosome;Early endosome NA 0 PE1 -NX_Q8N4B4 52646 442 9.1 17 NA NA 0 PE2 -NX_Q8N4B5 30926 295 11.09 6 NA NA 0 PE1 -NX_Q8N4C0 16682 152 10.45 9 NA NA 0 PE2 -NX_Q8N4C6 243249 2090 4.99 14 Centrosome;Nucleolus;Nucleus;Centriole;Centrosome Seckel syndrome 7 0 PE1 -NX_Q8N4C7 34324 294 7.05 3 Membrane NA 0 PE1 -NX_Q8N4C8 149822 1332 7.85 17 Golgi apparatus;Dendrite;Cytoplasm;Postsynaptic density;Axon NA 0 PE1 -NX_Q8N4C9 30555 275 9.62 17 Membrane NA 1 PE2 -NX_Q8N4E4 28071 241 4.79 4 NA NA 0 PE1 -NX_Q8N4E7 27538 242 6.79 5 Mitochondrion NA 0 PE1 -NX_Q8N4F0 49172 458 8.82 20 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q8N4F4 35933 322 5.39 11 Membrane NA 6 PE2 -NX_Q8N4F7 38266 328 9.07 4 Membrane NA 5 PE1 -NX_Q8N4G2 21588 192 8.93 3 Cytoplasmic vesicle NA 0 PE1 -NX_Q8N4H0 45058 392 9.22 9 NA NA 0 PE2 -NX_Q8N4H5 6035 51 9.69 9 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_Q8N4J0 47186 409 5.93 9 Cytosol;Nucleus NA 0 PE1 -NX_Q8N4K4 12312 120 5.51 17 Membrane NA 1 PE2 -NX_Q8N4L1 51278 468 8.31 11 Nucleolus;Membrane;Cytosol NA 2 PE1 -NX_Q8N4L2 28081 257 9.07 8 Late endosome membrane;Lysosome membrane NA 2 PE1 -NX_Q8N4L4 34773 309 8.07 17 Cytoplasm;Membrane NA 1 PE1 -NX_Q8N4L8 34322 307 6.57 1 Cytosol;Cell membrane NA 0 PE1 -NX_Q8N4M1 73783 653 7.92 1 Membrane NA 8 PE1 -NX_Q8N4M7 19474 172 5.3 10 NA NA 0 PE2 -NX_Q8N4N3 69896 616 5.85 16 Cytosol NA 0 PE1 -NX_Q8N4N8 76254 673 8.89 17 Nucleus;Nucleolus;Cytoskeleton;Centrosome;Spindle;Kinetochore NA 0 PE1 -NX_Q8N4P2 76099 665 5.12 2 Cilium NA 0 PE1 -NX_Q8N4P3 20329 179 6.25 15 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8N4P6 61825 559 9.3 1 NA NA 0 PE1 -NX_Q8N4Q0 40140 377 8.38 18 Golgi apparatus;Nucleus;Cytoplasmic vesicle;Peroxisome NA 0 PE1 -NX_Q8N4Q1 15996 142 4.23 3 Mitochondrion;Mitochondrion intermembrane space NA 0 PE1 -NX_Q8N4S0 64002 544 4.91 11 Cytosol;Nucleus NA 0 PE1 -NX_Q8N4S7 29126 273 9.26 16 Cytoplasmic vesicle;Membrane NA 6 PE1 -NX_Q8N4S9 64168 558 7.21 5 Cell membrane;Cell junction;Tight junction Deafness, autosomal recessive, 49 6 PE1 -NX_Q8N4T0 51008 437 9.58 8 Extracellular matrix Epilepsy, familial temporal lobe, 5;Febrile seizures, familial, 11 0 PE1 -NX_Q8N4T4 38295 335 9.71 9 Cell membrane NA 0 PE1 -NX_Q8N4T8 25301 237 9.4 4 Mitochondrion matrix NA 0 PE1 -NX_Q8N4U5 58091 519 4.89 12 Nucleus speckle NA 0 PE1 -NX_Q8N4V1 14686 131 9.2 X Endoplasmic reticulum membrane;Early endosome membrane;Golgi apparatus membrane NA 2 PE1 -NX_Q8N4V2 60769 548 5.6 12 Synaptic vesicle membrane NA 12 PE1 -NX_Q8N4W6 38086 341 9.39 12 Cytoplasmic vesicle;Membrane NA 7 PE1 -NX_Q8N4W9 104825 903 9.59 19 Nucleus NA 0 PE1 -NX_Q8N4X5 91300 818 5.22 10 Cell membrane;Cytosol;Cytoplasm NA 0 PE1 -NX_Q8N4Y2 44956 399 5.28 11 Nucleus NA 0 PE1 -NX_Q8N4Z0 11364 105 5.84 1 Membrane;Endoplasmic reticulum NA 0 PE5 -NX_Q8N511 23130 208 9.09 17 Endoplasmic reticulum membrane;COPI-coated vesicle membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane Congenital disorder of glycosylation 2P 2 PE1 -NX_Q8N531 58588 539 9.51 8 Nucleus NA 0 PE1 -NX_Q8N535 12106 108 5.44 2 NA NA 0 PE5 -NX_Q8N539 50744 461 6.02 9 Cell junction;Membrane NA 1 PE1 -NX_Q8N543 63246 542 5.03 16 Cytosol;Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8N554 67219 614 8.87 16 Nucleus;Cytosol;Nucleolus;Cell membrane;Nucleus;Kinetochore NA 0 PE1 -NX_Q8N556 80725 730 8.87 4 Cytoskeleton;Focal adhesion;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q8N565 24927 214 5.53 2 Cytoplasmic vesicle;Apical cell membrane NA 0 PE1 -NX_Q8N567 30477 271 9.33 5 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_Q8N568 83606 766 8.63 4 Cytoskeleton NA 0 PE1 -NX_Q8N573 97970 874 5.32 8 Cytoplasmic vesicle;Mitochondrion NA 0 PE1 -NX_Q8N584 65870 583 6.59 18 Nucleoplasm NA 0 PE1 -NX_Q8N587 55197 486 9.09 19 Nucleus NA 0 PE1 -NX_Q8N594 50662 471 5.49 19 Nucleus;Nucleolus NA 0 PE1 -NX_Q8N5A5 57359 531 5.3 20 Nucleus;Cell membrane;Nucleus NA 0 PE1 -NX_Q8N5B7 45752 392 8.21 12 Nucleus;Nucleolus;Endoplasmic reticulum membrane;Nucleus membrane NA 6 PE1 -NX_Q8N5C1 35170 309 8.49 6 Golgi apparatus;Membrane NA 4 PE1 -NX_Q8N5C6 111776 995 8.94 2 Mitochondrion;Cytosol NA 0 PE1 -NX_Q8N5C7 35248 304 8.65 15 Cytoplasmic vesicle;Nucleus;Nucleolus NA 0 PE1 -NX_Q8N5C8 78683 712 8.73 X Cytosol;Nucleus speckle NA 0 PE1 -NX_Q8N5D0 75920 677 6.85 1 Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q8N5D6 40127 347 8.68 9 Golgi apparatus membrane NA 1 PE2 -NX_Q8N5F7 47138 415 10.12 X Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q8N5G0 7702 67 9.86 4 Nucleus;Cytosol;Mitochondrion inner membrane;Nucleolus NA 1 PE1 -NX_Q8N5G2 76178 664 9.17 1 Nucleus membrane;Cytosol;Axon NA 4 PE1 -NX_Q8N5H3 20147 189 5.1 11 Cytoplasm;Lamellipodium NA 0 PE1 -NX_Q8N5H7 94411 860 8.2 9 Cytoplasm;Membrane NA 0 PE1 -NX_Q8N5I2 45981 433 6.53 9 Cell membrane;Nucleus;Nucleolus NA 0 PE1 -NX_Q8N5I3 31048 272 6.91 13 Cytoplasmic vesicle;Endoplasmic reticulum NA 0 PE1 -NX_Q8N5I4 36443 330 9.1 X Cytosol;Cytoskeleton;Secreted NA 0 PE1 -NX_Q8N5I9 20123 185 5.1 12 Nucleus;Nucleus membrane;Nucleoplasm NA 0 PE1 -NX_Q8N5J2 51778 469 4.75 1 Nucleoplasm NA 0 PE1 -NX_Q8N5J4 29180 248 9.02 12 Nucleus NA 0 PE2 -NX_Q8N5K1 15278 135 9.66 4 Mitochondrion outer membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum Wolfram syndrome 2 1 PE1 -NX_Q8N5L8 17631 163 10.32 9 Nucleus;Nucleus NA 0 PE1 -NX_Q8N5M1 32772 289 6.62 17 Cytosol;Mitochondrion Mitochondrial complex V deficiency, nuclear 1 0 PE1 -NX_Q8N5M4 20013 171 9.02 11 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q8N5M9 21125 183 9.72 3 Cytoplasm;Endoplasmic reticulum;Nucleus;Endoplasmic reticulum membrane;Cytoplasmic vesicle Neutropenia, severe congenital 6, autosomal recessive 4 PE1 -NX_Q8N5N4 15686 141 9.89 3 NA NA 0 PE2 -NX_Q8N5N7 18325 158 7.73 9 Mitochondrion NA 0 PE1 -NX_Q8N5P1 33576 291 8.55 2 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q8N5Q1 99915 922 9.45 19 NA NA 0 PE1 -NX_Q8N5R6 107216 958 6.32 15 NA NA 0 PE1 -NX_Q8N5S1 40795 370 9.35 19 Mitochondrion inner membrane NA 6 PE1 -NX_Q8N5S3 32142 287 9.07 2 NA NA 0 PE1 -NX_Q8N5S9 55735 505 5.55 17 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8N5T2 60208 526 5.67 4 Nucleoplasm;Nucleus membrane NA 0 PE1 -NX_Q8N5U0 36368 333 8.57 11 NA NA 0 PE1 -NX_Q8N5U1 25050 240 5.63 11 Membrane NA 4 PE2 -NX_Q8N5U6 89927 811 6.48 12 Nucleus;Cytoplasm;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q8N5V2 82496 710 5.42 2 Cytosol;Cytoplasm;Membrane;Growth cone;Cell membrane NA 0 PE1 -NX_Q8N5W8 10147 94 6.68 10 Secreted NA 0 PE1 -NX_Q8N5W9 22882 214 5.27 17 Cytoskeleton;Cell membrane;Cytoskeleton;Cytosol NA 0 PE1 -NX_Q8N5X7 24441 224 5.98 3 Nucleolus NA 0 PE1 -NX_Q8N5Y2 59824 521 8.4 X Nucleus NA 0 PE1 -NX_Q8N5Y8 36383 322 9.17 15 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8N5Z0 47352 425 6.47 4 Mitochondrion;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q8N5Z5 35670 321 4.82 22 Cytoplasm Dystonia 26, myoclonic 0 PE1 -NX_Q8N608 90888 796 6.11 2 Cytosol;Nucleus;Cytoplasmic vesicle;Cell membrane Asthma 1 PE1 -NX_Q8N609 42162 369 9.38 4 Endoplasmic reticulum;Mitochondrion;Endoplasmic reticulum membrane NA 8 PE1 -NX_Q8N612 105568 972 6.33 11 Nucleus;Cytoplasm;Mitochondrion NA 0 PE1 -NX_Q8N614 34323 296 7.98 4 Membrane NA 2 PE2 -NX_Q8N616 12924 119 6.53 16 NA NA 0 PE5 -NX_Q8N628 35376 320 7.13 1 Cell membrane;Cell membrane NA 7 PE2 -NX_Q8N635 49313 442 5.98 16 Chromosome;Nucleus;Nucleolus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8N653 94719 840 6.12 22 Nucleus Schwannomatosis 2;Noonan syndrome 10 0 PE1 -NX_Q8N660 77563 670 4.63 1 Cytoplasm NA 0 PE2 -NX_Q8N661 24352 226 6.15 19 Centrosome;Membrane;Cytoplasm;Midbody NA 7 PE1 -NX_Q8N668 21178 190 5.85 2 Nucleus;Cytosol;Nucleoplasm;Cytoplasm;Endosome membrane;Cytoplasmic vesicle;Early endosome;Recycling endosome NA 0 PE1 -NX_Q8N680 57337 514 5.71 6 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8N682 26253 238 6.39 12 Lysosome membrane NA 6 PE1 -NX_Q8N684 52050 471 7.82 11 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8N687 17537 156 5.31 20 Secreted NA 0 PE2 -NX_Q8N688 8105 67 9.77 20 Secreted NA 0 PE2 -NX_Q8N690 9822 84 8.92 20 Secreted NA 0 PE1 -NX_Q8N693 44297 406 5.19 X Cytoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q8N695 66578 610 7.9 12 Apical cell membrane NA 13 PE1 -NX_Q8N697 62034 577 9.2 12 Membrane NA 12 PE1 -NX_Q8N699 26593 235 9.88 6 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8N6C5 148936 1336 5.63 X Cytosol;Membrane;Secreted Hypothyroidism, central, and testicular enlargement 2 PE1 -NX_Q8N6C7 14321 128 10.38 19 NA NA 0 PE5 -NX_Q8N6C8 47472 439 8.37 19 Secreted NA 0 PE1 -NX_Q8N6D2 27402 247 5.82 6 Golgi apparatus;Cytoplasmic vesicle;Nucleus;Membrane;Cytoplasm NA 2 PE1 -NX_Q8N6D5 32442 301 9.46 18 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8N6F1 23229 224 8.49 1 Cell membrane;Tight junction Hypomagnesemia 5 4 PE1 -NX_Q8N6F7 21005 178 6.07 3 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8N6F8 26522 245 5.74 7 Focal adhesion NA 0 PE1 -NX_Q8N6G1 10504 96 9.35 1 NA NA 0 PE5 -NX_Q8N6G2 33595 289 9.4 13 NA NA 0 PE1 -NX_Q8N6G5 62572 542 5.5 10 Golgi stack membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q8N6G6 193409 1762 8.18 9 Extracellular matrix NA 0 PE1 -NX_Q8N6H7 56720 521 8.08 11 Golgi apparatus;Golgi apparatus membrane;Cytoplasm NA 0 PE1 -NX_Q8N6I1 25190 236 6.94 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8N6I4 18747 163 8.38 14 Membrane;Golgi apparatus;Cell junction NA 2 PE2 -NX_Q8N6K0 16649 151 4.99 13 Membrane NA 1 PE1 -NX_Q8N6K4 17423 173 9.65 16 NA NA 0 PE2 -NX_Q8N6K7 61237 520 6.67 6 NA NA 0 PE1 -NX_Q8N6L0 62783 562 4.65 19 Telomere;Nucleus;Nucleus outer membrane NA 1 PE1 -NX_Q8N6L1 14679 136 9.67 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 3 PE1 -NX_Q8N6L7 18703 170 4.88 9 Membrane NA 2 PE2 -NX_Q8N6M0 33813 293 5.77 8 Cytosol;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q8N6M3 29855 262 8.93 20 Endoplasmic reticulum membrane NA 6 PE1 -NX_Q8N6M5 45750 410 5.8 2 NA NA 0 PE2 -NX_Q8N6M6 93572 819 5.81 9 Cell junction;Cytoplasm NA 0 PE1 -NX_Q8N6M8 23699 205 9.68 3 Acrosome NA 0 PE1 -NX_Q8N6M9 16477 145 8.7 7 Cytoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8N6N2 25932 239 9.55 19 NA NA 0 PE1 -NX_Q8N6N3 20599 182 5.14 1 Nucleus NA 0 PE1 -NX_Q8N6N6 13032 113 8.84 17 NA NA 0 PE1 -NX_Q8N6N7 9790 88 6.26 10 Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q8N6P7 63077 574 5.81 1 Membrane NA 1 PE1 -NX_Q8N6Q1 34174 288 5.83 15 Membrane NA 1 PE1 -NX_Q8N6Q3 46363 437 5.87 19 Cell membrane NA 0 PE1 -NX_Q8N6Q8 68213 603 6.69 12 Cell membrane;Mitochondrion;Cytosol NA 0 PE1 -NX_Q8N6R0 78768 699 6.29 1 Cytosol NA 0 PE1 -NX_Q8N6R1 7431 65 10.61 13 Membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8N6S4 60818 541 6.46 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA 0 PE1 -NX_Q8N6S5 24676 226 5.94 2 Membrane;Cytosol;Nucleus membrane NA 3 PE1 -NX_Q8N6T0 64047 577 6.2 11 Chromosome;Centrosome NA 0 PE2 -NX_Q8N6T3 44668 406 5.46 20 Cytoplasmic vesicle;Nucleus membrane;Cytoplasm;Golgi apparatus;Golgi apparatus NA 0 PE1 -NX_Q8N6T7 39119 355 9.31 19 Nucleoplasm;Nucleoplasm NA 0 PE1 -NX_Q8N6U2 18370 182 11.05 12 NA NA 0 PE5 -NX_Q8N6U8 58559 529 8.56 1 Nucleolus;Nucleus;Cilium membrane;Cell membrane NA 7 PE1 -NX_Q8N6V4 10399 93 5.02 10 NA NA 0 PE1 -NX_Q8N6V9 44826 391 6.21 15 Cell membrane;Cytosol NA 0 PE1 -NX_Q8N6W0 52355 485 8.57 19 Nucleus;Cytoplasm NA 0 PE1 -NX_Q8N6Y0 76068 703 5.58 19 NA NA 0 PE1 -NX_Q8N6Y1 104919 951 4.91 13 Cell membrane NA 1 PE2 -NX_Q8N6Y2 51800 441 8.5 7 Cell membrane;Extracellular space;Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_Q8N715 72349 623 10.13 1 NA NA 0 PE1 -NX_Q8N720 57407 491 6.7 7 Nucleus;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q8N726 13903 132 12.41 9 Mitochondrion;Nucleoplasm;Nucleolus;Nucleolus NA 0 PE1 -NX_Q8N729 18048 165 11.62 16 Secreted NA 0 PE1 -NX_Q8N743 44928 410 7.27 19 Cell membrane NA 1 PE2 -NX_Q8N752 39086 337 9.48 13 Cytoplasm NA 0 PE1 -NX_Q8N755 22575 202 9.14 2 Cytosol;Membrane NA 4 PE1 -NX_Q8N766 111759 993 7.38 1 Membrane;Cytoskeleton;Cytoskeleton Cerebellar atrophy, visual impairment, and psychomotor retardation 1 PE1 -NX_Q8N769 13377 122 5.55 14 NA NA 0 PE2 -NX_Q8N782 23070 197 8.98 19 Nucleus NA 0 PE1 -NX_Q8N7A1 46720 406 5.67 14 Cytoplasm;Cytosol NA 0 PE2 -NX_Q8N7B1 35284 307 6.86 22 Chromosome;Nucleus NA 0 PE1 -NX_Q8N7B6 27152 248 9.71 4 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q8N7B9 50147 438 9.31 17 NA NA 0 PE1 -NX_Q8N7C0 35126 313 5.44 1 Cell membrane NA 1 PE1 -NX_Q8N7C3 43983 387 5.52 4 Cytosol;Cell membrane NA 0 PE1 -NX_Q8N7C4 26582 229 9.33 6 Membrane NA 4 PE2 -NX_Q8N7C7 34397 305 8.49 7 Membrane NA 1 PE1 -NX_Q8N7E2 48785 425 9.57 X Cytoplasm NA 0 PE2 -NX_Q8N7F7 19909 174 5.63 1 Mitochondrion;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q8N7G0 36051 328 10.11 5 Nucleus NA 0 PE1 -NX_Q8N7H1 13435 131 11.32 12 NA NA 0 PE2 -NX_Q8N7H5 59976 531 4.53 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8N7I0 21479 195 8.73 9 Mitochondrion NA 0 PE2 -NX_Q8N7J2 69507 671 6.55 13 Cell membrane NA 0 PE1 -NX_Q8N7K0 77243 673 9.38 19 Nucleus;Nucleus NA 0 PE1 -NX_Q8N7L0 16362 139 11.54 13 NA NA 0 PE2 -NX_Q8N7M0 20730 179 9.04 1 NA NA 0 PE1 -NX_Q8N7M2 77942 679 8.62 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8N7N1 32865 296 6 8 NA NA 0 PE2 -NX_Q8N7P1 61312 536 8.93 1 Cytoplasmic vesicle;Mitochondrion;Cytosol;Membrane NA 1 PE1 -NX_Q8N7P3 24509 220 5.7 4 Tight junction;Cell membrane NA 4 PE2 -NX_Q8N7P7 48314 452 10.01 8 NA NA 0 PE2 -NX_Q8N7Q2 20470 184 9.22 10 Secreted NA 0 PE5 -NX_Q8N7Q3 67624 588 9.1 19 Nucleus NA 0 PE2 -NX_Q8N7R0 26880 232 9.08 12 Nucleus NA 0 PE5 -NX_Q8N7R1 31848 296 9.32 7 NA NA 0 PE1 -NX_Q8N7R7 40705 359 5.7 2 Cell membrane NA 0 PE1 -NX_Q8N7S2 21433 189 7.92 2 Membrane NA 0 PE2 -NX_Q8N7S6 30424 290 11.74 3 Membrane NA 1 PE2 -NX_Q8N7U6 93802 833 7.51 3 NA NA 0 PE1 -NX_Q8N7U7 40603 411 10 19 Nucleus NA 0 PE1 -NX_Q8N7U9 15976 141 5.8 17 NA NA 0 PE5 -NX_Q8N7W2 57549 519 9.26 10 Nucleolus;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q8N7X0 189713 1667 8.49 6 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q8N7X1 114938 1067 9.19 X NA NA 0 PE1 -NX_Q8N7X2 42877 389 10.01 9 Cytoplasmic vesicle NA 0 PE1 -NX_Q8N7X4 43992 407 5.39 X NA NA 0 PE1 -NX_Q8N7X8 21283 197 9.59 19 Membrane NA 1 PE2 -NX_Q8N7Y1 25772 241 10.92 11 NA NA 0 PE5 -NX_Q8N7Z2 77076 621 5.31 15 NA NA 0 PE2 -NX_Q8N7Z5 210816 1873 5.82 5 NA NA 0 PE5 -NX_Q8N801 27807 248 9.61 2 Nucleus;Cytoplasm;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8N806 47999 425 4.7 14 Nucleus NA 0 PE1 -NX_Q8N807 66657 584 6.41 16 Endoplasmic reticulum NA 0 PE1 -NX_Q8N808 35381 338 6.63 17 Membrane NA 9 PE2 -NX_Q8N812 14959 135 6.63 12 Cytoskeleton;Cell membrane NA 0 PE2 -NX_Q8N813 26007 242 8.48 3 NA NA 0 PE2 -NX_Q8N814 14437 137 5.26 7 NA NA 0 PE5 -NX_Q8N815 36921 330 6.46 17 Focal adhesion;Nucleoplasm;Cell membrane NA 0 PE2 -NX_Q8N816 27975 258 6.33 17 Cytosol;Membrane NA 3 PE2 -NX_Q8N819 46170 430 6.21 19 Cytoplasmic vesicle NA 0 PE2 -NX_Q8N823 81449 705 9.16 19 Nucleus NA 0 PE1 -NX_Q8N831 45874 410 5.45 2 Nucleolus;Centrosome;Cytosol NA 0 PE1 -NX_Q8N841 96401 843 9.03 17 Cilium;Cilium basal body;Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 -NX_Q8N859 50172 430 6.51 7 Nucleolus;Nucleus NA 0 PE1 -NX_Q8N865 68464 590 6.9 7 Nucleoplasm;Mitochondrion;Centrosome NA 0 PE1 -NX_Q8N878 62523 549 8.52 6 Cytoskeleton NA 0 PE2 -NX_Q8N883 67215 585 9.25 19 Cytoplasmic vesicle;Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q8N884 58814 522 9.54 6 Cytosol;Microtubule organizing center;Cytosol NA 0 PE1 -NX_Q8N888 16258 145 9.12 Y NA NA 0 PE5 -NX_Q8N895 85107 744 8.88 5 Nucleus NA 0 PE1 -NX_Q8N8A2 107603 993 5.85 2 Nucleus speckle;Mitochondrion NA 0 PE1 -NX_Q8N8A6 72457 666 8.43 12 Nucleolus;Nucleolus;Cytosol;Nucleus NA 0 PE1 -NX_Q8N8A8 21411 192 5.58 15 NA NA 0 PE2 -NX_Q8N8B7 40245 351 8.86 X NA NA 0 PE1 -NX_Q8N8C0 41526 355 10.4 19 Nucleus;Nucleoplasm NA 0 PE2 -NX_Q8N8D1 54700 485 9.97 15 Nucleolus;Cell membrane;Nucleus NA 0 PE1 -NX_Q8N8D7 22620 197 5.41 8 Cell membrane NA 4 PE2 -NX_Q8N8D9 14652 126 6.77 5 Mitochondrion NA 0 PE2 -NX_Q8N8E1 13175 139 11.41 12 NA NA 0 PE5 -NX_Q8N8E2 57882 541 7.49 2 Nucleus Retinitis pigmentosa 58 0 PE1 -NX_Q8N8E3 112749 955 6.25 17 Nucleoplasm;Golgi apparatus;Centrosome NA 0 PE1 -NX_Q8N8F6 30632 280 4.76 4 Endoplasmic reticulum membrane;cis-Golgi network membrane;trans-Golgi network membrane NA 5 PE1 -NX_Q8N8F7 14462 131 5.22 7 Membrane;Cytosol NA 1 PE1 -NX_Q8N8G2 33426 317 6.33 6 Nucleus NA 0 PE1 -NX_Q8N8G6 21040 183 9.87 15 NA NA 0 PE2 -NX_Q8N8H1 18964 164 6.49 19 Nucleoplasm NA 0 PE5 -NX_Q8N8I0 22907 201 9.4 8 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q8N8I6 28326 264 11.2 17 NA NA 0 PE5 -NX_Q8N8J0 29179 262 6.83 22 NA NA 0 PE5 -NX_Q8N8J6 83739 731 9.35 19 Nucleolus;Nucleus;Mitochondrion NA 0 PE1 -NX_Q8N8J7 14653 132 4.6 4 Golgi apparatus;Membrane NA 1 PE1 -NX_Q8N8K9 79212 716 6.38 9 Cytosol;Cell membrane NA 0 PE1 -NX_Q8N8L2 50950 437 9.45 19 Nucleus NA 0 PE1 -NX_Q8N8L6 27459 244 4.58 5 NA NA 0 PE1 -NX_Q8N8M0 40521 369 6.49 7 Nucleus NA 0 PE2 -NX_Q8N8N0 22357 203 8.2 18 Lysosome membrane NA 1 PE1 -NX_Q8N8N7 38499 351 5.27 14 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q8N8P6 13896 123 9.36 X NA NA 0 PE2 -NX_Q8N8P7 13691 122 5.58 11 Secreted NA 0 PE2 -NX_Q8N8Q1 25424 229 10.02 1 Membrane NA 6 PE2 -NX_Q8N8Q3 30792 282 8.34 17 Cytoplasm;Nucleolus NA 0 PE1 -NX_Q8N8Q8 37063 333 9.86 4 Mitochondrion inner membrane NA 3 PE1 -NX_Q8N8Q9 39185 360 8.46 15 Golgi apparatus;Early endosome;Cell membrane NA 9 PE1 -NX_Q8N8R3 32062 303 9.03 14 Mitochondrion inner membrane NA 6 PE1 -NX_Q8N8R5 43448 385 8.31 2 Secreted NA 0 PE1 -NX_Q8N8R7 29338 260 8.42 11 Cytosol;Cytoplasmic vesicle;Nucleus;Cytoplasm;Focal adhesion NA 0 PE1 -NX_Q8N8S7 66510 591 6.51 1 Cytoplasm;Cytoskeleton;Cytosol;Focal adhesion;Filopodium;Focal adhesion;Synapse;Cell membrane;Lamellipodium NA 0 PE1 -NX_Q8N8U2 56500 506 8.99 16 Nucleus NA 0 PE1 -NX_Q8N8U3 52817 475 4.43 X Nucleoplasm;Cell membrane;Golgi apparatus;Nucleus NA 0 PE2 -NX_Q8N8U9 75997 685 8.18 7 Secreted Diaphanospondylodysostosis 0 PE1 -NX_Q8N8V2 72513 638 5.72 1 Membrane NA 0 PE1 -NX_Q8N8V4 46597 417 4.99 16 Cytosol;Microvillus;Nucleoplasm NA 0 PE1 -NX_Q8N8V8 13990 129 11.62 17 Membrane NA 2 PE2 -NX_Q8N8W4 57875 532 8.35 6 Cytoskeleton;Cytoplasm Ichthyosis, congenital, autosomal recessive 10 0 PE1 -NX_Q8N8X9 42357 362 8.84 1 Nucleoplasm NA 0 PE1 -NX_Q8N8Y2 40426 350 5.18 8 Cytoplasmic vesicle NA 0 PE1 -NX_Q8N8Y5 22806 198 9.46 8 Nucleus;Nucleus;Nucleolus;Cell membrane NA 0 PE2 -NX_Q8N8Z3 24207 221 11.22 10 NA NA 0 PE2 -NX_Q8N8Z6 77920 715 8.26 6 Cytosol;Membrane NA 1 PE1 -NX_Q8N8Z8 80136 693 8.82 19 Nucleus;Nucleus speckle NA 0 PE1 -NX_Q8N907 20180 189 9.89 19 Secreted NA 0 PE2 -NX_Q8N910 17040 161 11.89 15 NA NA 0 PE2 -NX_Q8N912 18051 160 11.21 14 Cell membrane NA 1 PE1 -NX_Q8N944 90445 861 5.48 2 Cytosol;Nucleoplasm;Cell membrane;Nucleus NA 0 PE1 -NX_Q8N945 21905 189 8.98 5 Nucleoplasm NA 0 PE2 -NX_Q8N954 30199 259 5.19 2 Kinetochore;Nucleus NA 0 PE1 -NX_Q8N957 87604 763 8.69 17 NA NA 0 PE2 -NX_Q8N960 112640 986 5.9 5 Cytosol;Centrosome;Cytoskeleton Short-rib thoracic dysplasia 13 with or without polydactyly 0 PE1 -NX_Q8N961 113656 1025 5.87 11 Nucleus NA 0 PE1 -NX_Q8N966 29100 263 9.5 14 Cell membrane;Membrane NA 2 PE1 -NX_Q8N967 41158 370 8.17 12 Membrane NA 1 PE1 -NX_Q8N972 74652 641 9.22 19 Nucleus NA 0 PE1 -NX_Q8N976 14881 141 6.53 7 NA NA 0 PE5 -NX_Q8N983 23431 215 8.97 10 Nucleoplasm;Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q8N987 40571 351 4.83 8 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q8N988 48627 423 9.22 19 Cytosol;Nucleus;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q8N998 43809 374 5.33 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8N999 37490 325 6.6 12 Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q8N9A8 14267 125 8.71 16 Cytosol;Nucleus membrane;Cytoplasm NA 2 PE1 -NX_Q8N9B4 43052 389 6.01 11 Nucleoplasm;Cell membrane;Cytosol NA 0 PE1 -NX_Q8N9B5 111445 988 5.88 5 Nucleus;Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q8N9B8 54556 481 7.6 10 Golgi apparatus NA 0 PE2 -NX_Q8N9C0 100400 903 6.7 11 NA NA 0 PE2 -NX_Q8N9E0 28941 248 10.1 X NA NA 0 PE1 -NX_Q8N9F0 32837 302 9.05 4 Cytoplasm;Mitochondrion;Membrane;Microsome membrane;Mitochondrion membrane;Rough endoplasmic reticulum membrane N-acetylaspartate deficiency 1 PE1 -NX_Q8N9F7 36167 314 8.66 17 Membrane;Perinuclear region;Cytoplasm NA 2 PE1 -NX_Q8N9F8 60008 522 8.96 5 Nucleus NA 0 PE2 -NX_Q8N9G6 37462 341 10.42 10 NA NA 0 PE2 -NX_Q8N9H6 14527 132 9.23 8 NA NA 0 PE2 -NX_Q8N9H8 96598 876 8.6 9 Focal adhesion;Cytoskeleton NA 0 PE1 -NX_Q8N9H9 69787 656 5.32 1 NA NA 0 PE2 -NX_Q8N9I0 46872 419 8.18 1 Synaptic vesicle membrane;Chromaffin granule membrane;Cytoplasmic vesicle Myasthenic syndrome, congenital, 7, presynaptic 1 PE1 -NX_Q8N9I5 40447 356 8.13 17 Membrane NA 6 PE1 -NX_Q8N9I9 37988 347 9.02 12 Nucleolus;Cytoplasm;Golgi apparatus;Nucleus NA 0 PE1 -NX_Q8N9K5 62445 539 8.58 19 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q8N9K7 13671 121 10.94 8 NA NA 0 PE2 -NX_Q8N9L1 36567 334 9.61 3 Cytosol;Nucleus;Nucleus NA 0 PE2 -NX_Q8N9L7 13535 120 9.8 22 NA NA 0 PE5 -NX_Q8N9L9 46327 421 8.31 14 Peroxisome NA 0 PE1 -NX_Q8N9M1 44746 422 10.12 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8N9M5 54175 508 5.59 17 Cell membrane NA 1 PE1 -NX_Q8N9N2 45509 400 5.36 10 Nucleus;Nucleoplasm;Cytosol Spinal muscular atrophy with congenital bone fractures 2;Barrett esophagus 0 PE1 -NX_Q8N9N5 56494 519 5.27 16 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8N9N7 26754 239 8.7 15 Cytosol;Membrane;Mitochondrion NA 0 PE1 -NX_Q8N9N8 19053 165 5.14 11 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q8N9P0 25159 234 11.75 6 NA NA 0 PE5 -NX_Q8N9P6 22154 203 11.66 9 NA NA 0 PE2 -NX_Q8N9Q2 18177 155 9.86 5 Nucleolus;Nucleus NA 0 PE1 -NX_Q8N9R0 15610 145 11.42 16 NA NA 0 PE5 -NX_Q8N9R6 17514 151 10.05 17 Mitochondrion NA 0 PE2 -NX_Q8N9R8 70399 606 8.78 9 Nucleus membrane;Nucleus;Membrane;Nucleus;Cytoplasm NA 1 PE1 -NX_Q8N9S9 50802 440 6.62 8 Nucleoplasm;Golgi apparatus;Cytosol NA 0 PE1 -NX_Q8N9T2 14163 125 9.29 X NA NA 0 PE5 -NX_Q8N9T8 82598 703 5.06 19 Nucleolus NA 0 PE1 -NX_Q8N9U0 55284 490 9.29 14 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8N9U9 13254 137 12.18 X NA NA 0 PE5 -NX_Q8N9V2 53002 468 5.36 4 NA NA 0 PE1 -NX_Q8N9V3 52817 476 5.93 2 Nucleolus;Cytosol;Nucleus NA 0 PE1 -NX_Q8N9V6 59571 530 9.58 2 Spindle pole;Spindle NA 0 PE1 -NX_Q8N9V7 190927 1692 8.16 3 Cytosol NA 0 PE2 -NX_Q8N9W4 79343 650 5.49 15 NA NA 0 PE1 -NX_Q8N9W5 59411 541 5.6 19 Cytoplasm;Nucleus;Mitochondrion Ciliary dyskinesia, primary, 2 0 PE1 -NX_Q8N9W6 31301 283 6.59 2 Cytoplasm NA 0 PE1 -NX_Q8N9W7 13731 124 8.96 15 Membrane NA 1 PE5 -NX_Q8N9W8 47076 422 5.6 14 NA NA 0 PE1 -NX_Q8N9X3 18887 169 11.31 1 NA NA 0 PE5 -NX_Q8N9X5 15361 138 8.88 8 Cell membrane;Cytoplasm;Membrane NA 2 PE2 -NX_Q8N9Y4 38724 354 9.75 14 NA NA 0 PE2 -NX_Q8N9Z0 53489 462 9.36 19 Nucleus NA 0 PE1 -NX_Q8N9Z2 26261 235 11.71 7 Cytoskeleton;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q8N9Z9 43408 388 9.18 12 Centrosome;Nucleoplasm NA 0 PE1 -NX_Q8NA03 66121 581 5.08 15 Nucleoplasm NA 0 PE1 -NX_Q8NA19 71122 623 7.11 18 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q8NA23 40840 367 8.65 9 Cytosol;Nucleus NA 0 PE1 -NX_Q8NA29 60170 543 6.51 1 Endoplasmic reticulum membrane;Cell membrane;Cell membrane;Cytosol;Cytosol Microcephaly 15, primary, autosomal recessive 11 PE1 -NX_Q8NA31 83064 727 7.29 16 Telomere;Nucleus inner membrane NA 0 PE1 -NX_Q8NA42 54613 475 8.21 19 Nucleus;Nucleus membrane;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8NA47 66250 563 9.08 12 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q8NA54 92581 791 6.21 7 NA NA 0 PE1 -NX_Q8NA56 55082 475 5.5 4 NA NA 0 PE1 -NX_Q8NA57 47326 414 8.79 12 NA NA 0 PE1 -NX_Q8NA58 60124 520 8.82 6 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8NA61 51570 448 6.7 13 Cell membrane;Cell junction NA 0 PE1 -NX_Q8NA66 50224 436 9.15 8 NA NA 0 PE2 -NX_Q8NA69 57331 505 9.04 19 NA NA 0 PE1 -NX_Q8NA70 73945 645 8.96 X NA NA 0 PE2 -NX_Q8NA72 63351 575 6.97 5 Centriole;Nucleus NA 0 PE1 -NX_Q8NA75 43747 395 8.85 8 NA NA 0 PE1 -NX_Q8NA77 18469 164 3.85 17 Cytoplasm NA 0 PE1 -NX_Q8NA82 90511 808 6.26 17 Cell membrane;Cytosol NA 0 PE1 -NX_Q8NA92 30082 274 10.24 19 Nucleoplasm NA 0 PE1 -NX_Q8NA96 19635 180 8.97 5 NA NA 0 PE5 -NX_Q8NA97 15156 138 8.17 8 NA NA 0 PE2 -NX_Q8NAA4 68998 619 9.2 11 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q8NAA5 37780 344 8.66 17 NA NA 0 PE1 -NX_Q8NAA6 19737 179 9.93 15 NA NA 0 PE2 -NX_Q8NAB2 69395 608 5.22 11 NA NA 0 PE1 -NX_Q8NAC3 86240 791 5.73 3 Cell membrane;Centrosome;Cytoskeleton Candidiasis, familial, 9 1 PE1 -NX_Q8NAE3 13125 123 6.11 1 NA NA 0 PE1 -NX_Q8NAF0 60509 562 9.07 19 Nucleus;Nucleus NA 0 PE1 -NX_Q8NAG6 66890 615 5.98 19 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8NAJ2 25113 232 8.89 9 NA NA 0 PE2 -NX_Q8NAM6 48957 433 6.47 19 Nucleus;Telomere NA 0 PE1 -NX_Q8NAN2 71006 632 5.42 1 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_Q8NAP1 17846 163 8.78 7 NA NA 0 PE5 -NX_Q8NAP3 134257 1195 8.34 3 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q8NAP8 54175 495 4.98 1 Nucleus NA 0 PE1 -NX_Q8NAQ8 14168 132 11.48 16 NA NA 0 PE2 -NX_Q8NAS9 17397 161 4.87 5 NA NA 0 PE2 -NX_Q8NAT1 66615 580 8.81 3 Endoplasmic reticulum membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8 1 PE1 -NX_Q8NAT2 109737 981 8.31 1 Cytoplasm NA 0 PE1 -NX_Q8NAU1 23659 212 6.91 1 Cell membrane;Peroxisome membrane;Secreted NA 1 PE1 -NX_Q8NAV1 37477 312 9.97 1 Nucleus;Nucleus NA 0 PE1 -NX_Q8NAV2 39661 365 8.52 8 Nucleus NA 0 PE2 -NX_Q8NAX2 43642 398 6.1 1 Nucleoplasm;Cytoplasm;Spindle;Cell junction;Cell junction Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 0 PE1 -NX_Q8NB12 56617 490 6.66 2 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8NB14 116546 1042 5.82 4 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8NB15 29428 262 6.31 10 Nucleus NA 0 PE1 -NX_Q8NB16 54479 471 9 16 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8NB25 132965 1140 5.59 6 Golgi apparatus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8NB37 23298 220 6.14 11 Secreted;Nucleoplasm NA 0 PE1 -NX_Q8NB42 70902 609 8.35 19 Golgi apparatus;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q8NB46 115077 1076 6.01 12 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q8NB49 129477 1132 6.25 X Cell membrane;Endoplasmic reticulum membrane NA 10 PE1 -NX_Q8NB50 102511 900 9.24 5 Cytoskeleton;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8NB59 62287 555 6.02 1 Membrane;Cytoplasmic vesicle Spinocerebellar ataxia, autosomal recessive, 11 1 PE1 -NX_Q8NB66 250911 2214 5.64 15 Cytoplasm;Presynaptic cell membrane;Membrane NA 0 PE1 -NX_Q8NB78 92098 822 8.13 6 Nucleus;Nucleus NA 0 PE1 -NX_Q8NB90 97904 893 5.5 4 Cytosol;Mitochondrion;Cytoplasm Epilepsy, hearing loss, and mental retardation syndrome 0 PE1 -NX_Q8NB91 97726 859 7.79 X Nucleus Fanconi anemia complementation group B 0 PE1 -NX_Q8NBA8 33416 298 8.95 5 Nucleus NA 0 PE1 -NX_Q8NBB2 13907 130 11.83 15 NA NA 0 PE2 -NX_Q8NBB4 45286 408 8.85 19 Nucleus;Nucleolus NA 0 PE1 -NX_Q8NBC4 21159 194 11.74 20 Cytoplasm NA 0 PE2 -NX_Q8NBD8 19531 167 5.68 14 Membrane NA 4 PE2 -NX_Q8NBE8 63923 558 5.4 2 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q8NBF1 65976 620 7.56 1 Nucleus NA 0 PE1 -NX_Q8NBF2 79444 726 5.33 10 Nucleoplasm NA 0 PE1 -NX_Q8NBF4 16182 154 11.26 7 NA NA 0 PE5 -NX_Q8NBF6 71947 648 5.79 7 Endoplasmic reticulum;Recycling endosome;Membrane NA 1 PE1 -NX_Q8NBH2 63855 561 7.1 3 Cytoskeleton;Z line;Nucleoplasm Myopathy, myofibrillar, 7 0 PE1 -NX_Q8NBI2 27214 242 9.64 11 Lysosome membrane;Late endosome membrane NA 6 PE1 -NX_Q8NBI3 38650 349 7.62 1 Secreted NA 0 PE1 -NX_Q8NBI5 54529 491 8.81 11 Membrane NA 12 PE1 -NX_Q8NBI6 43807 393 8.35 3 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8NBJ4 45333 401 4.91 9 cis-Golgi network membrane;Golgi apparatus NA 1 PE1 -NX_Q8NBJ5 71636 622 6.85 19 Endoplasmic reticulum lumen;Cytoplasmic vesicle NA 0 PE1 -NX_Q8NBJ7 33843 301 7.78 7 Endoplasmic reticulum lumen;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q8NBJ9 94454 832 6.55 11 Lysosome membrane;Cell membrane NA 10 PE1 -NX_Q8NBK3 40556 374 6.18 3 Endoplasmic reticulum lumen Multiple sulfatase deficiency 0 PE1 -NX_Q8NBL1 46189 392 8.91 3 Endoplasmic reticulum lumen Dowling-Degos disease 4;Limb-girdle muscular dystrophy 2Z 0 PE1 -NX_Q8NBL3 33019 297 8.83 2 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nucleus NA 3 PE2 -NX_Q8NBM4 38964 344 9.21 13 Endoplasmic reticulum membrane;Cytosol NA 3 PE1 -NX_Q8NBM8 54646 494 6.81 5 Nucleoplasm;Mitochondrion;Secreted NA 0 PE1 -NX_Q8NBN3 63430 555 6.32 15 Golgi apparatus membrane;Golgi apparatus NA 7 PE1 -NX_Q8NBN7 35932 331 8.23 19 Mitochondrion;Cytosol NA 0 PE1 -NX_Q8NBP0 96813 860 6.56 1 Nucleoplasm NA 0 PE1 -NX_Q8NBP5 50619 474 9.28 2 Membrane;Nucleolus NA 9 PE1 -NX_Q8NBP7 74286 692 6.14 1 Cell surface;Lysosome;Endosome;Secreted;Endoplasmic reticulum;Cytoplasm;Golgi apparatus Hypercholesterolemia, autosomal dominant, 3 0 PE1 -NX_Q8NBQ5 32936 300 9.2 4 Lipid droplet;Secreted NA 0 PE1 -NX_Q8NBQ7 30203 271 8.08 11 Cytoplasmic vesicle;Membrane;Nucleoplasm NA 6 PE1 -NX_Q8NBR0 42238 393 10.97 17 Cell membrane;Cytoplasm NA 1 PE1 -NX_Q8NBR6 67106 621 4.44 15 Nucleoplasm NA 0 PE1 -NX_Q8NBR9 27887 251 9.56 11 NA NA 0 PE2 -NX_Q8NBS3 99581 891 7.59 20 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Membrane Corneal dystrophy and perceptive deafness;Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy 11 PE1 -NX_Q8NBS9 47629 432 5.63 6 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 -NX_Q8NBT0 45009 407 7.31 3 Centriole;Cilium basal body;Spindle pole Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 0 PE1 -NX_Q8NBT2 22478 197 4.65 19 Nucleolus;Nucleus;Kinetochore;Nucleus NA 0 PE1 -NX_Q8NBT3 55534 493 8.88 19 Cytoplasmic vesicle;Membrane NA 8 PE2 -NX_Q8NBU5 40744 361 6.43 10 Cytoplasm;Postsynaptic cell membrane;Mitochondrion;Peroxisome;Nucleolus;Nucleus NA 0 PE1 -NX_Q8NBV4 29448 271 9.98 9 Nucleus;Cytoplasmic vesicle;Nucleus envelope;Endoplasmic reticulum membrane;Membrane NA 4 PE1 -NX_Q8NBV8 44138 401 9.65 11 Nucleoplasm;Cell membrane;Acrosome;Cell junction NA 1 PE2 -NX_Q8NBW4 63776 561 7.59 5 Lysosome membrane;Late endosome membrane;Cytoplasmic vesicle;Nucleoplasm NA 11 PE1 -NX_Q8NBX0 47151 429 9.24 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q8NBZ0 26478 244 8.41 16 Nucleus;Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q8NBZ7 47577 420 8.99 2 Golgi stack membrane NA 1 PE1 -NX_Q8NBZ9 25156 246 10.69 1 NA NA 0 PE5 -NX_Q8NC01 31952 280 5.93 12 Membrane NA 1 PE2 -NX_Q8NC06 30308 268 6.83 17 Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q8NC24 32405 303 6.42 5 Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_Q8NC26 47747 417 8.9 19 Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_Q8NC38 14381 126 9.35 1 NA NA 0 PE2 -NX_Q8NC42 43165 400 6.08 2 Membrane;Cell membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q8NC44 57830 543 4.39 2 Cytosol;Membrane NA 3 PE1 -NX_Q8NC51 44965 408 8.66 1 Nucleus;Cytoplasm;Perinuclear region;Cytosol;Cytoplasm NA 0 PE1 -NX_Q8NC54 29235 265 4.93 5 Golgi apparatus;Membrane NA 1 PE1 -NX_Q8NC56 56975 503 9.16 6 Nucleus inner membrane;Nucleus membrane Cataract 46, juvenile-onset 2 PE1 -NX_Q8NC60 78458 698 8.87 4 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_Q8NC67 59393 525 6.38 16 Membrane;Golgi apparatus NA 1 PE1 -NX_Q8NC69 27610 237 5.61 3 Nucleolus;Mitochondrion;M line NA 0 PE1 -NX_Q8NC74 71432 664 6.08 20 NA NA 0 PE1 -NX_Q8NC96 29737 275 6.33 12 Clathrin-coated vesicle membrane;Cytoplasmic vesicle;Cell membrane;Cytosol Epileptic encephalopathy, early infantile, 21 0 PE1 -NX_Q8NCA5 55401 519 9.15 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q8NCA9 34237 323 7.95 19 Nucleus;Nucleus NA 0 PE1 -NX_Q8NCB2 54354 501 5.38 3 Nucleus;Cytoplasm;Cell membrane;Nucleoplasm;Cytoplasmic vesicle membrane;Cytoskeleton NA 0 PE1 -NX_Q8NCC3 46658 412 6.26 16 Mitochondrion;Lysosome;Secreted;Membrane;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q8NCC5 54486 494 5.46 7 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cytosol NA 12 PE1 -NX_Q8NCD3 83539 748 9.4 2 Cytosol;Nucleolus;Nucleus;Nucleolus;Centromere NA 0 PE1 -NX_Q8NCE0 53247 465 7.95 3 Nucleus;Nucleoplasm;Nucleolus;Cytosol Pontocerebellar hypoplasia 2B 0 PE1 -NX_Q8NCE2 72203 650 5.85 3 Cytoplasm;Cytoplasm Myopathy, centronuclear, 1 0 PE1 -NX_Q8NCF0 49585 446 8.54 16 Secreted;Endoplasmic reticulum;Golgi apparatus;Endosome NA 0 PE2 -NX_Q8NCF5 45817 419 6.19 16 Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8NCG5 45134 386 9.11 16 Golgi apparatus membrane NA 1 PE1 -NX_Q8NCG7 73732 672 6.09 7 Cell membrane;Cell membrane NA 4 PE1 -NX_Q8NCH0 42997 376 9.55 15 Cytoplasmic vesicle;Golgi apparatus membrane Ehlers-Danlos syndrome, musculocontractural type 1 1 PE1 -NX_Q8NCI6 74823 653 9.05 11 NA NA 0 PE1 -NX_Q8NCJ5 49694 442 5.78 12 Cytosol;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q8NCK3 50280 441 9.68 10 Nucleus NA 0 PE1 -NX_Q8NCK7 47791 471 8.67 17 Endoplasmic reticulum membrane;Cell membrane Diabetes mellitus, non-insulin-dependent 12 PE1 -NX_Q8NCL4 71159 622 8.47 12 Golgi apparatus membrane;Golgi apparatus;Nucleoplasm NA 1 PE1 -NX_Q8NCL8 27464 245 9.13 12 Membrane;Nucleoplasm;Cytoskeleton NA 4 PE2 -NX_Q8NCL9 55635 501 9.15 20 Mitochondrion;Membrane NA 1 PE1 -NX_Q8NCM2 111877 988 7.51 14 Cytoskeleton;Spindle;Membrane NA 6 PE1 -NX_Q8NCM8 492622 4307 6.13 11 Cytoplasm;Cell membrane;Cilium axoneme;Mitochondrion Short-rib thoracic dysplasia 3 with or without polydactyly 0 PE1 -NX_Q8NCN2 55534 500 6 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8NCN4 77194 708 9.28 11 Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_Q8NCN5 99364 879 5.93 16 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q8NCP5 63848 570 6.16 11 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8NCQ2 16070 148 11.82 19 NA NA 0 PE2 -NX_Q8NCQ3 11012 95 8.74 11 Membrane NA 1 PE5 -NX_Q8NCQ5 57258 510 8.88 18 NA NA 0 PE1 -NX_Q8NCQ7 40522 364 7.94 17 NA NA 0 PE1 -NX_Q8NCR0 56704 500 5.46 1 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus;Endoplasmic reticulum Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 1 PE1 -NX_Q8NCR3 36720 313 7.22 11 NA NA 0 PE1 -NX_Q8NCR6 30167 262 8.76 9 Cytoskeleton;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8NCR9 25321 226 9.3 10 Membrane NA 4 PE1 -NX_Q8NCS4 16885 154 9.26 1 Nucleolus;Nucleus;Membrane NA 3 PE1 -NX_Q8NCS7 81674 719 8.54 1 Membrane;Cytosol NA 10 PE1 -NX_Q8NCT1 45479 418 5.84 15 Early endosome;Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q8NCT3 60525 520 10.03 7 Cell membrane;Cytosol;Nucleus;Cell junction NA 0 PE1 -NX_Q8NCU1 15808 140 6.11 14 NA NA 0 PE5 -NX_Q8NCU4 110568 936 9.61 3 Mitochondrion NA 0 PE1 -NX_Q8NCU7 39744 369 11.28 15 Nucleus NA 0 PE1 -NX_Q8NCU8 15608 138 11.19 2 Membrane NA 1 PE1 -NX_Q8NCV1 61755 583 9.11 16 NA NA 0 PE1 -NX_Q8NCW0 48849 462 7.44 16 Nucleolus;Membrane NA 1 PE1 -NX_Q8NCW5 31675 288 7.56 1 Cytosol;Mitochondrion;Secreted;Nucleoplasm Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 0 PE1 -NX_Q8NCW6 68919 608 8.47 7 Golgi apparatus membrane NA 1 PE1 -NX_Q8NCX0 128761 1101 6.58 2 Nucleoplasm NA 0 PE1 -NX_Q8NCY6 41150 345 5.37 11 Nucleus;Nucleus NA 0 PE1 -NX_Q8ND04 109684 991 7.74 17 Nucleoplasm NA 0 PE1 -NX_Q8ND07 61987 529 9.07 14 Cell membrane;Microtubule organizing center;Cilium basal body;Nucleus NA 0 PE1 -NX_Q8ND23 150230 1372 7.2 14 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8ND24 77667 703 6.51 11 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q8ND25 23783 227 6.18 16 Cell membrane;Synaptic vesicle membrane;Membrane;Lysosome;Endosome;Golgi apparatus NA 0 PE1 -NX_Q8ND30 98544 876 5.88 11 Mitochondrion NA 0 PE1 -NX_Q8ND56 50530 463 9.55 19 Cytosol;P-body;Cytoplasm;Cytosol NA 0 PE1 -NX_Q8ND61 101266 904 9.24 3 Cytoplasm;Membrane NA 1 PE1 -NX_Q8ND71 74890 665 8.62 7 Endoplasmic reticulum;Golgi apparatus;Mitochondrion;Cytosol NA 0 PE1 -NX_Q8ND76 39337 341 6.76 10 Nucleus;Cell membrane;Nucleus NA 0 PE1 -NX_Q8ND82 83096 737 9.29 X Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q8ND83 60595 568 7.57 13 Cytoskeleton;Cytosol;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q8ND90 39761 353 4.78 14 Cytosol;Focal adhesion;Nucleolus NA 0 PE1 -NX_Q8ND94 25262 238 6.07 11 Nucleus;Nucleoplasm;Membrane NA 1 PE1 -NX_Q8NDA2 541978 5059 5.57 9 Extracellular matrix;Cytoplasmic vesicle;Cleavage furrow NA 0 PE1 -NX_Q8NDA8 181249 1641 6.44 8 NA NA 0 PE1 -NX_Q8NDB2 89282 785 5.28 4 Nucleoplasm;Cell membrane;Cytosol Systemic lupus erythematosus 0 PE1 -NX_Q8NDB6 24412 213 9.75 X Nucleus envelope;Membrane NA 1 PE1 -NX_Q8NDC0 24269 245 5.3 14 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8NDC4 16236 146 7.88 10 Nucleus;Cytoplasm;Cytoplasm;Filopodium tip;Stereocilium NA 0 PE1 -NX_Q8NDD1 32766 294 9.92 1 Nucleus;Chromosome;Nucleolus;Cytosol NA 0 PE1 -NX_Q8NDF8 63267 572 9.07 16 Nucleus;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q8NDG6 155683 1382 6.62 14 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8NDH2 277951 2452 9.35 13 NA NA 0 PE1 -NX_Q8NDH3 55861 523 6.41 20 Nucleoplasm NA 0 PE1 -NX_Q8NDH6 54407 482 5.18 2 Mitochondrion NA 0 PE1 -NX_Q8NDI1 140017 1231 5.24 2 Cell membrane;Cytosol;Membrane;Endosome;Cytoplasm Prostate cancer, hereditary, 12 0 PE1 -NX_Q8NDL9 97534 886 9.34 2 Spindle;Cytoplasm;Cytosol;Midbody;Nucleus;Cytosol Retinitis pigmentosa 75 0 PE1 -NX_Q8NDM7 191984 1665 5.71 10 Cytoplasm;Nucleus;Flagellum NA 0 PE1 -NX_Q8NDN9 58252 531 6.02 13 Cytoplasm;Nucleus;Nucleoplasm Retinal dystrophy with or without extraocular anomalies 0 PE1 -NX_Q8NDP4 58395 499 9.4 19 Nucleus NA 0 PE1 -NX_Q8NDQ6 77094 660 9.58 19 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8NDT2 97205 890 9.86 3 Nucleoplasm;Nucleoplasm NA 0 PE1 -NX_Q8NDV1 35395 305 9.23 1 Nucleoplasm;Golgi apparatus membrane NA 1 PE1 -NX_Q8NDV2 37604 337 9.82 10 Cell membrane NA 7 PE1 -NX_Q8NDV3 143908 1235 7.69 22 Cytosol;Nucleus;Nucleoplasm;Chromosome;Centromere NA 0 PE1 -NX_Q8NDV7 210297 1962 6.55 16 Golgi apparatus;P-body;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q8NDW4 67087 579 8.59 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8NDW8 150944 1320 6.85 3 Nucleoplasm NA 0 PE1 -NX_Q8NDX1 116249 1056 5.31 2 Cell membrane;Ruffle membrane NA 0 PE1 -NX_Q8NDX2 64991 589 5.95 12 Synaptic vesicle membrane;Membrane;Synaptosome Deafness, autosomal dominant, 25 12 PE1 -NX_Q8NDX5 106162 983 6.15 3 Nucleus;Nucleus NA 0 PE1 -NX_Q8NDX6 21857 193 9.38 12 Nucleus;Nucleus NA 0 PE1 -NX_Q8NDX9 22572 201 6.17 6 Secreted NA 0 PE1 -NX_Q8NDY3 40105 354 5.58 13 Nucleoplasm NA 0 PE1 -NX_Q8NDY4 15384 140 8.83 1 NA NA 0 PE2 -NX_Q8NDY6 23665 225 9.37 20 Nucleus NA 0 PE2 -NX_Q8NDY8 22122 209 5.53 1 Membrane NA 1 PE2 -NX_Q8NDZ0 87919 799 5.23 X NA NA 0 PE1 -NX_Q8NDZ2 96838 872 6.1 5 Nucleus;Nucleolus NA 0 PE1 -NX_Q8NDZ4 49482 430 8.84 3 COPI-coated vesicle;Golgi apparatus;Secreted NA 0 PE1 -NX_Q8NDZ6 55482 487 8.59 5 Membrane NA 8 PE1 -NX_Q8NDZ9 22305 215 12.41 10 NA NA 0 PE5 -NX_Q8NE00 55679 496 6.79 17 Membrane;Nucleoplasm;Golgi apparatus NA 11 PE1 -NX_Q8NE01 76119 707 5.76 2 Cytosol;Cell membrane NA 4 PE1 -NX_Q8NE09 147163 1264 8.08 8 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8NE18 81039 718 8.95 4 Cytoplasmic vesicle NA 0 PE1 -NX_Q8NE22 34095 299 8.93 5 Nucleoplasm NA 0 PE1 -NX_Q8NE28 75676 680 5.23 9 NA NA 0 PE1 -NX_Q8NE31 65727 585 5.5 10 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8NE35 76014 698 6.56 10 Cytoplasm;Nucleus;Synapse;Dendrite;Postsynaptic density NA 0 PE1 -NX_Q8NE62 65358 594 8.57 3 Mitochondrion inner membrane NA 0 PE1 -NX_Q8NE63 69425 616 6.18 19 Cytoplasm NA 0 PE1 -NX_Q8NE65 15884 137 4.99 19 Nucleus NA 0 PE1 -NX_Q8NE71 95926 845 6.4 6 Cytoplasm;Nucleoplasm;Cytoplasm;Nucleus envelope;Cytosol NA 0 PE1 -NX_Q8NE79 41451 360 8.02 6 Lateral cell membrane;Caveola;Cell junction;Tight junction;Membrane;Sarcolemma Limb-girdle muscular dystrophy 2X 3 PE1 -NX_Q8NE86 39867 351 8.83 10 Mitochondrion;Mitochondrion inner membrane NA 2 PE1 -NX_Q8NEA4 22105 188 8.64 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q8NEA5 24151 215 9.06 19 Golgi apparatus;Membrane NA 1 PE1 -NX_Q8NEA6 83636 775 8.34 9 Nucleus;Nucleoplasm Diabetes mellitus, neonatal, with congenital hypothyroidism 0 PE1 -NX_Q8NEA9 60201 526 8.04 5 Nucleus matrix NA 0 PE1 -NX_Q8NEB5 29484 264 8.81 8 Cytoplasmic vesicle;Membrane NA 5 PE1 -NX_Q8NEB7 61359 543 5.09 12 Acrosome;Secreted;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q8NEB9 101549 887 6.37 18 Late endosome;Midbody;Autophagosome NA 0 PE1 -NX_Q8NEC5 90091 780 7.22 11 Flagellum membrane Spermatogenic failure 7 6 PE1 -NX_Q8NEC7 71079 633 8.04 4 Nucleus;Cytoplasm NA 0 PE1 -NX_Q8NEE0 9662 82 10.17 2 NA NA 0 PE5 -NX_Q8NEE6 83924 735 9.03 7 NA NA 0 PE2 -NX_Q8NEE8 98309 873 9.15 9 NA NA 0 PE1 -NX_Q8NEF3 53565 446 9.48 5 Cell membrane;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8NEF9 48634 429 9.59 5 Perinuclear region;Nucleus;Nucleolus;Cytoplasmic vesicle NA 0 PE1 -NX_Q8NEG0 27472 241 6.53 12 NA NA 0 PE1 -NX_Q8NEG2 32846 295 7.78 7 NA NA 0 PE1 -NX_Q8NEG4 55486 500 8.38 22 Nucleus;Mitochondrion NA 0 PE1 -NX_Q8NEG5 72732 633 8.95 2 NA NA 0 PE1 -NX_Q8NEG7 66464 585 9.11 22 Cytoplasm;Cell membrane;Recycling endosome NA 0 PE1 -NX_Q8NEH6 60571 495 6.73 15 Nucleoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q8NEJ0 21066 188 7.04 22 Mitochondrion inner membrane;Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q8NEJ9 35894 315 9.57 14 Nucleus;Filopodium;Centromere;Cytoplasm;Axon;Dendrite;Nucleolus;Nucleus;Mitochondrion;Nucleolus NA 0 PE1 -NX_Q8NEK5 62728 533 8.37 19 Nucleus;Nucleus NA 0 PE1 -NX_Q8NEK8 44500 389 6.17 X NA NA 0 PE1 -NX_Q8NEL0 37886 328 8.61 3 NA NA 0 PE1 -NX_Q8NEL9 100435 900 5.42 14 Cytoplasm Spastic paraplegia 28, autosomal recessive 0 PE1 -NX_Q8NEM0 92849 835 8.56 8 Nucleus;Nucleoplasm;Centrosome Microcephaly 1, primary, autosomal recessive 0 PE1 -NX_Q8NEM1 61798 530 9.19 7 Nucleus;Nucleus NA 0 PE1 -NX_Q8NEM2 75690 672 4.66 16 Midbody;Spindle;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q8NEM7 85789 779 8.77 13 Nucleus;Nucleolus NA 0 PE1 -NX_Q8NEM8 116011 1001 8.98 7 Cytosol;Nucleus speckle;Cytosol;Mitochondrion NA 0 PE2 -NX_Q8NEN0 96867 867 8.53 6 Nucleus;Cytoplasm;Nucleus NA 0 PE2 -NX_Q8NEN9 128563 1154 5.78 10 Nucleolus;Cell membrane NA 0 PE1 -NX_Q8NEP3 80026 725 4.57 16 Cilium;Cytoplasm;Spindle pole;Nucleus speckle;Cell membrane;Cytosol Ciliary dyskinesia, primary, 13 0 PE1 -NX_Q8NEP4 63111 570 9.29 17 NA NA 0 PE1 -NX_Q8NEP7 37754 349 8.71 1 Nucleoplasm NA 0 PE1 -NX_Q8NEP9 73084 628 9.26 19 Nucleus NA 0 PE1 -NX_Q8NEQ5 16886 155 9.05 1 Membrane NA 1 PE1 -NX_Q8NEQ6 17657 169 9.23 1 Nucleoplasm NA 0 PE1 -NX_Q8NER1 94956 839 6.9 17 Endoplasmic reticulum;Dendritic spine membrane;Postsynaptic cell membrane;Cell membrane NA 6 PE1 -NX_Q8NER5 54871 493 8.22 2 Membrane NA 1 PE1 -NX_Q8NES3 41773 379 9.35 7 Golgi apparatus membrane Spondylocostal dysostosis 3, autosomal recessive 1 PE1 -NX_Q8NES8 8058 71 8.26 20 Secreted NA 0 PE3 -NX_Q8NET1 8326 73 8.65 11 Secreted NA 0 PE2 -NX_Q8NET4 144280 1388 5.81 X NA NA 0 PE1 -NX_Q8NET5 29686 270 9.04 22 Cell membrane NA 1 PE1 -NX_Q8NET6 38920 341 10.56 3 Golgi apparatus membrane NA 1 PE1 -NX_Q8NET8 90636 790 6.17 17 Membrane;Cytosol;Centrosome;Cell membrane Olmsted syndrome;Palmoplantar keratoderma, non-epidermolytic, focal 2 6 PE1 -NX_Q8NEU8 74493 664 4.87 12 Early endosome membrane;Nucleus NA 0 PE1 -NX_Q8NEV1 45220 391 8.54 11 NA NA 0 PE1 -NX_Q8NEV4 186208 1616 9.04 10 Cell membrane;Cytoskeleton;Cytoskeleton;Cytoplasm;Filopodium tip;Stereocilium;Cytosol Deafness, autosomal recessive, 30 0 PE1 -NX_Q8NEV8 222519 1989 7.98 11 NA Epidermolysis bullosa, non-specific, autosomal recessive 0 PE1 -NX_Q8NEV9 27493 243 6.18 16 Secreted NA 0 PE1 -NX_Q8NEW0 41626 376 6.43 1 Golgi apparatus;Golgi apparatus;trans-Golgi network membrane NA 6 PE1 -NX_Q8NEW7 17241 156 9.43 3 Cytoplasmic vesicle;Membrane;Cytosol Deafness, autosomal recessive, 6 1 PE1 -NX_Q8NEX5 10506 89 7.5 20 Secreted NA 0 PE1 -NX_Q8NEX6 10340 87 8.75 20 Secreted NA 0 PE2 -NX_Q8NEX9 35263 313 9.26 12 Cytoplasm;Nucleolus;Cytosol Ichthyosis, congenital, autosomal recessive 13 0 PE1 -NX_Q8NEY1 202472 1877 8.2 1 Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q8NEY3 34751 305 9.86 4 NA NA 0 PE1 -NX_Q8NEY4 48759 427 5.82 2 Mitochondrion NA 0 PE1 -NX_Q8NEY8 52737 458 9.15 12 Golgi apparatus;Nucleoplasm;Nucleus;Cytoplasm;Chromosome NA 0 PE1 -NX_Q8NEZ2 44314 397 5.37 8 Late endosome membrane;Nucleus;Cytoplasmic vesicle;Centrosome;Cytosol Spastic paraplegia 53, autosomal recessive 0 PE1 -NX_Q8NEZ3 151581 1342 5.94 4 Nucleoplasm;Cilium;Cilium basal body;Photoreceptor outer segment;Nucleus Cranioectodermal dysplasia 4;Senior-Loken syndrome 8;Short-rib thoracic dysplasia 5 with or without polydactyly;Nephronophthisis 13 0 PE1 -NX_Q8NEZ4 541370 4911 6.07 7 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8NEZ5 44508 403 6.61 15 Z line NA 0 PE1 -NX_Q8NF37 59151 534 5.77 5 Lipid droplet;Lipid droplet;Golgi apparatus membrane;Endoplasmic reticulum;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8NF50 238529 2099 6.43 9 Cytosol;Nucleoplasm;Cytoplasm;Cell membrane;Centrosome;Lamellipodium membrane;Mitochondrion Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;Mental retardation, autosomal dominant 2 0 PE1 -NX_Q8NF64 96537 920 6.68 7 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8NF67 31171 263 5.19 1 NA NA 0 PE5 -NX_Q8NF86 29787 280 10.03 16 Secreted NA 0 PE1 -NX_Q8NF91 1011086 8797 5.37 6 Cytoskeleton;Golgi apparatus;Nucleus outer membrane;Nucleus;Nucleus envelope;Nucleoplasm;Sarcomere;Nucleus membrane Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive, 8 1 PE1 -NX_Q8NF99 61139 534 6.93 18 Cell membrane;Nucleolus;Nucleus;Cytoskeleton;Cytoplasm;Cytosol NA 0 PE1 -NX_Q8NFA0 181656 1604 6.01 17 Cytosol;Membrane;Golgi apparatus;Golgi apparatus NA 0 PE1 -NX_Q8NFA2 41253 376 9.9 16 Cell membrane NA 0 PE1 -NX_Q8NFB2 40631 350 6.79 X Dendrite;Membrane NA 7 PE1 -NX_Q8NFC6 330466 3051 5 4 Cytoplasm;Nucleoplasm;Chromosome NA 0 PE1 -NX_Q8NFD2 84632 765 6.6 11 NA NA 0 PE2 -NX_Q8NFD4 16997 153 11.11 9 NA NA 0 PE2 -NX_Q8NFD5 236123 2236 6.26 6 Nucleus;Nucleolus;Nucleoplasm;Nucleus Coffin-Siris syndrome 1 0 PE1 -NX_Q8NFF2 69042 622 7.48 14 Cytoplasm;Cell membrane Amelogenesis imperfecta, hypomaturation type, 2A5 10 PE1 -NX_Q8NFF5 65266 587 6.49 1 Mitochondrion matrix;Cytosol;Cytoplasm;Cell membrane Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 0 PE1 -NX_Q8NFG4 64473 579 5.83 17 Cytoplasm;Cell membrane;Cytosol;Nucleus Renal cell carcinoma;Primary spontaneous pneumothorax;Birt-Hogg-Dube syndrome 0 PE1 -NX_Q8NFH3 42151 380 5.31 6 Kinetochore;Nuclear pore complex NA 0 PE1 -NX_Q8NFH4 36708 326 5.55 12 Nucleoplasm;Kinetochore;Nuclear pore complex NA 0 PE1 -NX_Q8NFH5 34774 326 9.15 2 Cell membrane;Nuclear pore complex;Nucleus membrane;Nucleus membrane;Nucleoplasm NA 0 PE1 -NX_Q8NFH8 71534 660 7.56 X Cytoplasm NA 0 PE1 -NX_Q8NFI3 83987 743 6.34 17 Cytosol;Cytosol;Centrosome NA 0 PE1 -NX_Q8NFI4 41378 369 4.96 11 Cytoplasm NA 0 PE5 -NX_Q8NFJ5 40251 357 8.39 12 Cell membrane;Cytoplasmic vesicle;Cell membrane;Cytoplasmic vesicle membrane NA 7 PE1 -NX_Q8NFJ6 43996 384 9.04 20 Cell membrane Hypogonadotropic hypogonadism 3 with or without anosmia 7 PE1 -NX_Q8NFJ8 36997 381 7.04 8 Nucleus NA 0 PE2 -NX_Q8NFJ9 65083 593 8.02 11 Midbody;Centriolar satellite;Cilium membrane;Cytoplasm Bardet-Biedl syndrome 1 0 PE1 -NX_Q8NFK1 31299 279 9.35 7 Gap junction;Cell membrane NA 4 PE1 -NX_Q8NFL0 45987 401 9.2 2 Golgi apparatus membrane NA 1 PE1 -NX_Q8NFM4 119794 1077 7.31 14 Cytoplasm;Cell membrane NA 12 PE1 -NX_Q8NFM7 82411 739 6.78 3 Golgi apparatus;Golgi apparatus membrane;Cell membrane;Cytoplasm;Nucleoplasm Hypogonadotropic hypogonadism 18 with or without anosmia 1 PE1 -NX_Q8NFN8 89097 814 7.74 3 Cell membrane;Cell membrane NA 7 PE2 -NX_Q8NFP0 16023 134 9.17 6 Peroxisome NA 0 PE2 -NX_Q8NFP4 105790 955 8.65 6 Cell membrane;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q8NFP7 18500 164 5.52 X Cytoplasm NA 0 PE1 -NX_Q8NFP9 327822 2946 5.78 13 Nucleus;Membrane;Golgi apparatus;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q8NFQ5 49717 453 8.97 20 Secreted NA 0 PE1 -NX_Q8NFQ6 56469 507 5.56 22 Secreted NA 0 PE2 -NX_Q8NFQ8 51263 470 4.84 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus membrane NA 1 PE1 -NX_Q8NFR3 9198 76 7.72 3 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q8NFR7 71076 591 9 2 Nucleus;Nucleolus NA 0 PE1 -NX_Q8NFR9 74810 667 9.43 3 Secreted;Cytoplasm;Cell membrane NA 1 PE1 -NX_Q8NFT2 56056 490 9.28 7 Endosome membrane;Cell membrane;Cytoplasmic vesicle NA 6 PE1 -NX_Q8NFT6 67243 615 8.72 17 Nucleus;Nucleus NA 0 PE1 -NX_Q8NFT8 78475 737 5.03 2 Cell membrane NA 1 PE1 -NX_Q8NFU0 53497 473 5.81 1 Cell membrane NA 4 PE1 -NX_Q8NFU1 57139 509 5.11 19 Cell membrane NA 4 PE1 -NX_Q8NFU3 12530 115 5.85 1 Cytosol;Cytosol;Perinuclear region NA 0 PE1 -NX_Q8NFU4 9700 85 9.3 4 Secreted NA 0 PE1 -NX_Q8NFU5 47222 416 7.27 10 Nucleus;Nucleus NA 0 PE1 -NX_Q8NFU7 235309 2136 8.53 10 Nucleus membrane;Nucleus;Nucleus NA 0 PE1 -NX_Q8NFV4 34690 315 9.5 7 Mitochondrion NA 0 PE1 -NX_Q8NFV5 40668 336 9.52 7 NA NA 0 PE2 -NX_Q8NFW1 161145 1626 6.88 8 Cytoplasmic vesicle;Endoplasmic reticulum;Extracellular matrix;Cytoplasm NA 0 PE1 -NX_Q8NFW5 41198 382 8.76 1 Nucleus NA 0 PE1 -NX_Q8NFW8 48379 434 8.16 12 Cytosol;Nucleus;Nucleolus NA 0 PE1 -NX_Q8NFW9 95706 859 5.44 3 Nucleolus;Nucleus;Golgi apparatus;Cytoplasm;Perinuclear region;Secretory vesicle NA 0 PE1 -NX_Q8NFX7 23554 210 9.19 14 Cytoplasm;Membrane NA 0 PE1 -NX_Q8NFY4 119872 1073 8.77 15 Cytoplasm;Cell membrane;Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q8NFY9 68823 601 5.88 3 Spindle;Golgi apparatus NA 0 PE1 -NX_Q8NFZ0 117686 1043 8.58 10 Nucleus;Chromosome NA 0 PE1 -NX_Q8NFZ3 92021 816 5.77 Y Cell membrane;Postsynaptic density NA 1 PE2 -NX_Q8NFZ4 90820 835 5.78 17 Cell membrane;Presynaptic cell membrane;Postsynaptic cell membrane;Mitochondrion NA 1 PE1 -NX_Q8NFZ5 48700 429 6.03 4 Nucleus;Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q8NFZ6 44476 395 9.52 19 Cell membrane NA 8 PE2 -NX_Q8NFZ8 42785 388 5.92 19 Nucleus;Nucleus membrane;Membrane NA 1 PE1 -NX_Q8NG04 60059 563 8.6 12 Membrane NA 5 PE2 -NX_Q8NG06 54766 486 5.87 1 NA NA 0 PE1 -NX_Q8NG08 123252 1087 5.59 12 Nucleus;Cytoplasm;Chromosome NA 0 PE1 -NX_Q8NG11 30691 270 6.41 10 Cell membrane;Cytoplasmic vesicle NA 4 PE1 -NX_Q8NG27 71002 643 5.05 X Nucleolus;Nucleus NA 0 PE1 -NX_Q8NG31 265391 2342 5.3 15 Nucleus;Nucleoplasm;Nucleus;Kinetochore Microcephaly 4, primary, autosomal recessive 0 PE1 -NX_Q8NG35 8923 78 8.71 8 Secreted NA 0 PE2 -NX_Q8NG41 13097 125 9.97 17 Secreted NA 0 PE1 -NX_Q8NG48 85857 757 6.07 15 Nucleoplasm Mental retardation, autosomal recessive 27 0 PE1 -NX_Q8NG50 31970 284 5.75 17 Nucleolus;Nucleus;Cytosol;Cajal body;PML body;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q8NG57 59744 546 9.86 18 Nucleus NA 0 PE1 -NX_Q8NG66 74192 645 5 3 Nucleolus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8NG68 43212 377 6.28 2 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q8NG75 36885 326 7.57 11 Cell membrane NA 7 PE2 -NX_Q8NG76 35876 320 8.91 1 Cell membrane NA 7 PE2 -NX_Q8NG77 35946 320 8.96 1 Cell membrane NA 7 PE3 -NX_Q8NG78 38798 346 8.65 11 Cell membrane NA 7 PE2 -NX_Q8NG80 35648 312 8.87 1 Cell membrane NA 7 PE3 -NX_Q8NG81 34902 312 7.52 1 Cell membrane NA 7 PE2 -NX_Q8NG83 34827 312 8.45 1 Cell membrane NA 7 PE2 -NX_Q8NG84 37763 335 9.23 1 Cell membrane NA 7 PE2 -NX_Q8NG85 35282 312 8.96 1 Cell membrane NA 7 PE2 -NX_Q8NG92 34570 308 9.25 X Cell membrane NA 7 PE2 -NX_Q8NG94 36578 326 8.35 22 Cell membrane NA 7 PE3 -NX_Q8NG95 34439 312 8.53 19 Cell membrane NA 7 PE3 -NX_Q8NG97 34444 314 7.57 19 Cell membrane NA 7 PE2 -NX_Q8NG98 34448 312 7.05 19 Cell membrane NA 7 PE2 -NX_Q8NG99 35931 324 8.51 19 Cell membrane NA 7 PE3 -NX_Q8NGA0 34803 311 8.77 19 Cell membrane NA 7 PE3 -NX_Q8NGA1 34840 313 9.18 19 Cell membrane NA 7 PE2 -NX_Q8NGA2 34430 310 6.42 19 Cell membrane NA 7 PE5 -NX_Q8NGA4 30291 272 9.49 19 Cell membrane NA 5 PE5 -NX_Q8NGA5 35765 316 8.92 19 Cell membrane NA 7 PE3 -NX_Q8NGA6 34900 315 8.92 19 Cell membrane NA 7 PE2 -NX_Q8NGA8 34212 305 8.69 19 Cell membrane NA 7 PE2 -NX_Q8NGB2 36862 326 6.57 11 Cell membrane NA 7 PE3 -NX_Q8NGB4 34800 309 9 11 Cell membrane NA 7 PE3 -NX_Q8NGB6 35416 313 7.48 15 Cell membrane NA 7 PE2 -NX_Q8NGB8 35369 312 8.84 15 Cell membrane NA 7 PE2 -NX_Q8NGB9 35355 312 8.88 15 Cell membrane NA 7 PE2 -NX_Q8NGC0 40658 362 9.24 14 Cell membrane NA 7 PE2 -NX_Q8NGC1 38871 345 9.47 14 Cell membrane NA 7 PE3 -NX_Q8NGC2 35466 313 8.26 14 Cell membrane NA 7 PE3 -NX_Q8NGC3 34472 310 9.04 14 Cell membrane NA 7 PE2 -NX_Q8NGC4 35055 313 9.17 14 Cell membrane NA 7 PE3 -NX_Q8NGC5 38693 347 8.84 14 Cell membrane NA 7 PE3 -NX_Q8NGC6 35312 315 8.97 14 Cell membrane NA 7 PE3 -NX_Q8NGC7 36788 330 8.59 14 Cell membrane NA 7 PE3 -NX_Q8NGC8 35499 314 8.71 14 Cell membrane NA 7 PE3 -NX_Q8NGC9 36886 324 9.05 14 Cell membrane NA 7 PE2 -NX_Q8NGD0 35488 313 8.41 14 Cell membrane NA 7 PE2 -NX_Q8NGD1 34721 307 9.06 14 Cell membrane NA 7 PE2 -NX_Q8NGD2 35357 314 7.59 14 Cell membrane NA 7 PE2 -NX_Q8NGD3 36258 323 8.77 14 Cell membrane NA 7 PE3 -NX_Q8NGD4 35201 311 6.43 14 Cell membrane NA 7 PE2 -NX_Q8NGD5 35053 310 8.46 14 Cell membrane NA 7 PE3 -NX_Q8NGE0 35698 317 8.46 12 Cell membrane NA 7 PE2 -NX_Q8NGE1 35010 309 8.91 12 Cell membrane NA 7 PE2 -NX_Q8NGE2 34902 309 8.66 12 Cell membrane NA 7 PE3 -NX_Q8NGE3 34741 313 9.77 12 Cell membrane NA 7 PE2 -NX_Q8NGE5 35695 316 8.78 12 Cell membrane NA 7 PE3 -NX_Q8NGE7 37746 335 8.68 12 Cell membrane NA 6 PE2 -NX_Q8NGE8 35666 314 9.08 11 Cell membrane NA 7 PE3 -NX_Q8NGE9 35363 314 8.83 11 Cell membrane NA 7 PE3 -NX_Q8NGF0 36963 335 8.61 11 Cell membrane NA 7 PE3 -NX_Q8NGF1 34943 315 8.49 11 Cell membrane NA 7 PE3 -NX_Q8NGF3 35839 324 8.99 11 Cell membrane NA 7 PE2 -NX_Q8NGF4 35508 316 8.9 11 Cell membrane NA 7 PE2 -NX_Q8NGF6 33376 305 6.83 11 Cell membrane NA 7 PE2 -NX_Q8NGF7 35091 314 7.56 11 Cell membrane NA 7 PE3 -NX_Q8NGF8 34456 309 7.54 11 Cell membrane NA 7 PE3 -NX_Q8NGF9 34289 303 8.75 11 Cell membrane NA 7 PE2 -NX_Q8NGG0 35481 315 8.62 11 Cell membrane NA 7 PE3 -NX_Q8NGG1 35160 315 8.51 11 Membrane NA 7 PE3 -NX_Q8NGG2 40696 359 8.91 11 Cell membrane NA 7 PE2 -NX_Q8NGG3 38346 340 8.3 11 Cell membrane NA 7 PE3 -NX_Q8NGG4 35228 311 9.03 11 Cell membrane NA 7 PE2 -NX_Q8NGG5 36581 319 9.18 11 Cell membrane NA 7 PE2 -NX_Q8NGG6 34372 310 8.51 11 Cell membrane NA 7 PE2 -NX_Q8NGG7 36388 326 8.69 11 Cell membrane NA 7 PE2 -NX_Q8NGG8 35305 313 9.07 11 Cell membrane NA 7 PE3 -NX_Q8NGH3 37489 330 9.21 11 Cell membrane NA 7 PE2 -NX_Q8NGH5 35823 318 9.03 11 Cell membrane NA 7 PE2 -NX_Q8NGH6 35227 319 8.98 11 Cell membrane NA 7 PE5 -NX_Q8NGH7 36221 329 8.57 11 Cell membrane NA 7 PE2 -NX_Q8NGH8 35116 313 9.03 11 Cell membrane NA 7 PE2 -NX_Q8NGH9 35480 312 8.84 11 Cell membrane NA 7 PE3 -NX_Q8NGI0 35940 321 8.35 11 Cell membrane NA 7 PE3 -NX_Q8NGI1 35955 322 8.99 11 Cell membrane NA 7 PE5 -NX_Q8NGI2 36080 321 8.48 11 Cell membrane NA 7 PE2 -NX_Q8NGI3 36050 324 8.5 11 Cell membrane NA 7 PE2 -NX_Q8NGI4 34969 311 9.06 11 Cell membrane NA 7 PE3 -NX_Q8NGI6 35300 311 9.07 11 Cell membrane NA 7 PE2 -NX_Q8NGI7 34746 309 8.69 11 Cell membrane NA 7 PE3 -NX_Q8NGI8 34789 311 8.83 11 Cell membrane NA 7 PE2 -NX_Q8NGI9 36016 324 8.46 11 Cell membrane NA 7 PE2 -NX_Q8NGJ0 35152 315 8.53 11 Cell membrane NA 7 PE2 -NX_Q8NGJ1 35954 314 8.75 11 Cell membrane NA 7 PE2 -NX_Q8NGJ2 35592 320 8.18 11 Cell membrane NA 7 PE2 -NX_Q8NGJ3 34714 308 8.64 11 Cell membrane NA 7 PE3 -NX_Q8NGJ4 36630 325 8.69 11 Cell membrane NA 7 PE3 -NX_Q8NGJ5 35369 315 7.65 11 Cell membrane NA 7 PE3 -NX_Q8NGJ6 35256 313 9.15 11 Cell membrane NA 7 PE3 -NX_Q8NGJ7 35078 313 9.06 11 Cell membrane NA 7 PE3 -NX_Q8NGJ8 35313 323 9.13 11 Cell membrane NA 7 PE2 -NX_Q8NGJ9 36998 327 9.45 11 Cell membrane NA 7 PE3 -NX_Q8NGK0 35012 314 8.93 11 Cell membrane NA 7 PE2 -NX_Q8NGK1 36290 321 8.97 11 Cell membrane NA 7 PE2 -NX_Q8NGK2 35584 314 8.82 11 Cell membrane NA 7 PE3 -NX_Q8NGK3 34926 314 8.8 11 Cell membrane NA 7 PE2 -NX_Q8NGK4 35231 314 8.97 11 Cell membrane NA 7 PE2 -NX_Q8NGK5 35037 317 8.99 11 Cell membrane NA 7 PE3 -NX_Q8NGK6 35386 324 7.16 11 Cell membrane NA 7 PE3 -NX_Q8NGK9 37278 328 8.62 11 Cell membrane NA 7 PE3 -NX_Q8NGL0 34682 311 8.46 11 Cell membrane NA 7 PE2 -NX_Q8NGL1 35348 313 8.68 11 Cell membrane NA 7 PE2 -NX_Q8NGL2 34559 311 8.29 11 Cell membrane NA 7 PE2 -NX_Q8NGL3 35823 314 9.01 11 Cell membrane NA 7 PE3 -NX_Q8NGL4 35447 314 8.19 11 Cell membrane NA 7 PE3 -NX_Q8NGL6 38828 344 9.01 11 Cell membrane NA 7 PE3 -NX_Q8NGL7 35795 312 8.76 11 Cell membrane NA 7 PE3 -NX_Q8NGL9 34991 310 8.8 11 Cell membrane NA 7 PE3 -NX_Q8NGM1 35667 316 8.02 11 Cell membrane NA 7 PE3 -NX_Q8NGM8 35328 313 8.54 11 Cell membrane NA 7 PE2 -NX_Q8NGM9 35019 314 9.04 11 Cell membrane NA 7 PE2 -NX_Q8NGN0 35771 318 8.95 11 Cell membrane NA 7 PE2 -NX_Q8NGN1 36348 323 9.39 11 Cell membrane NA 7 PE2 -NX_Q8NGN2 36501 331 8.47 11 Cell membrane NA 7 PE2 -NX_Q8NGN3 34569 311 8.99 11 Cell membrane NA 7 PE3 -NX_Q8NGN4 34574 311 8.57 11 Cell membrane NA 7 PE3 -NX_Q8NGN5 34519 311 9.14 11 Cell membrane NA 7 PE2 -NX_Q8NGN6 34517 311 8.85 11 Cell membrane NA 7 PE3 -NX_Q8NGN7 33107 298 8.33 11 Cell membrane NA 7 PE5 -NX_Q8NGN8 33593 299 8.83 11 Cell membrane NA 7 PE5 -NX_Q8NGP0 34582 309 8.72 11 Cell membrane NA 7 PE2 -NX_Q8NGP2 35415 316 8.61 11 Cell membrane NA 7 PE2 -NX_Q8NGP3 35093 310 8.7 11 Cell membrane NA 7 PE3 -NX_Q8NGP4 35156 307 9.19 11 Cell membrane NA 7 PE2 -NX_Q8NGP6 35603 311 8.78 11 Cell membrane NA 7 PE2 -NX_Q8NGP8 35608 315 8.41 11 Cell membrane NA 7 PE3 -NX_Q8NGP9 34815 310 7.52 11 Cell membrane NA 7 PE3 -NX_Q8NGQ1 36344 327 8.25 11 Cell membrane NA 7 PE3 -NX_Q8NGQ2 35736 317 8.32 11 Cell membrane NA 7 PE2 -NX_Q8NGQ3 36579 325 7.63 11 Cell membrane NA 7 PE3 -NX_Q8NGQ4 35602 319 8.16 11 Cell membrane NA 7 PE3 -NX_Q8NGQ5 34757 310 5.72 11 Cell membrane NA 7 PE2 -NX_Q8NGQ6 34908 314 9 11 Cell membrane NA 7 PE3 -NX_Q8NGR1 36494 328 8.7 10 Cell membrane NA 7 PE2 -NX_Q8NGR2 39515 347 9.6 9 Cell membrane NA 7 PE3 -NX_Q8NGR3 34268 316 8.1 9 Cell membrane NA 7 PE2 -NX_Q8NGR4 34991 320 8.88 9 Cell membrane NA 7 PE2 -NX_Q8NGR5 35277 311 9.44 9 Cell membrane NA 7 PE3 -NX_Q8NGR6 35293 318 8.48 9 Cell membrane NA 7 PE3 -NX_Q8NGR8 35083 309 8.96 9 Cell membrane NA 7 PE2 -NX_Q8NGR9 36889 330 7.98 9 Cell membrane NA 7 PE2 -NX_Q8NGS0 34650 311 7.92 9 Cell membrane NA 7 PE3 -NX_Q8NGS1 34959 313 6.42 9 Cell membrane NA 7 PE2 -NX_Q8NGS2 35385 313 6.48 9 Cell membrane NA 7 PE2 -NX_Q8NGS3 35493 322 7.96 9 Cell membrane NA 7 PE2 -NX_Q8NGS4 35646 319 8.94 9 Cell membrane NA 7 PE3 -NX_Q8NGS5 35576 318 9.3 9 Cell membrane NA 7 PE3 -NX_Q8NGS6 38729 347 8.83 9 Cell membrane NA 7 PE2 -NX_Q8NGS7 35294 320 8.47 9 Cell membrane NA 7 PE3 -NX_Q8NGS8 35796 318 8.53 9 Cell membrane NA 7 PE2 -NX_Q8NGS9 35694 318 7.58 9 Cell membrane NA 7 PE2 -NX_Q8NGT0 35854 318 8.56 9 Cell membrane NA 7 PE3 -NX_Q8NGT1 38473 345 8.76 9 Cell membrane NA 7 PE2 -NX_Q8NGT2 34689 312 8.87 9 Cell membrane NA 7 PE2 -NX_Q8NGT5 35330 310 8.84 7 Cell membrane NA 6 PE2 -NX_Q8NGT7 35213 310 9.24 7 Cell membrane NA 7 PE3 -NX_Q8NGT9 34714 310 8.9 7 Cell membrane NA 7 PE3 -NX_Q8NGU1 29546 263 7.46 7 Cell membrane NA 6 PE5 -NX_Q8NGU2 35758 314 8.8 7 Cell membrane NA 7 PE2 -NX_Q8NGU4 34115 316 9.61 6 Cell membrane NA 7 PE5 -NX_Q8NGU9 46353 434 10.17 5 Cell membrane NA 7 PE3 -NX_Q8NGV0 34731 311 8.66 5 Cell membrane NA 7 PE2 -NX_Q8NGV5 39125 346 7.53 9 Cell membrane NA 7 PE2 -NX_Q8NGV6 36713 325 6.64 3 Cell membrane NA 7 PE2 -NX_Q8NGV7 35974 314 7.57 3 Cell membrane NA 7 PE3 -NX_Q8NGW1 37232 331 8.53 2 Cell membrane NA 7 PE3 -NX_Q8NGW6 38362 343 8.39 1 Cell membrane NA 7 PE2 -NX_Q8NGX0 36763 322 9.22 1 Cell membrane NA 7 PE3 -NX_Q8NGX1 35681 318 8.7 1 Cell membrane NA 7 PE2 -NX_Q8NGX2 36101 323 9.03 1 Cell membrane NA 7 PE3 -NX_Q8NGX3 35011 314 9.24 1 Cell membrane NA 7 PE3 -NX_Q8NGX5 35079 313 9.33 1 Cell membrane NA 7 PE2 -NX_Q8NGX6 37486 335 8.88 1 Cell membrane NA 7 PE3 -NX_Q8NGX8 36636 325 8.38 1 Cell membrane NA 7 PE3 -NX_Q8NGX9 35831 317 8.77 1 Cell membrane NA 7 PE3 -NX_Q8NGY0 36446 326 8.51 1 Cell membrane NA 7 PE3 -NX_Q8NGY1 34609 313 8.48 1 Cell membrane NA 7 PE3 -NX_Q8NGY2 36513 324 8.21 1 Cell membrane NA 7 PE2 -NX_Q8NGY3 37352 331 6.97 1 Cell membrane NA 7 PE3 -NX_Q8NGY5 34869 312 8.63 1 Cell membrane NA 7 PE3 -NX_Q8NGY6 35692 317 9.08 1 Cell membrane NA 7 PE3 -NX_Q8NGY7 31021 276 8.87 1 Cell membrane NA 7 PE5 -NX_Q8NGY9 35444 312 8.86 1 Cell membrane NA 7 PE3 -NX_Q8NGZ0 37063 328 9.12 1 Cell membrane NA 7 PE3 -NX_Q8NGZ2 34861 314 8.77 1 Cell membrane NA 7 PE3 -NX_Q8NGZ3 34672 307 8.52 1 Cell membrane NA 7 PE2 -NX_Q8NGZ4 34506 309 8.04 1 Cell membrane NA 7 PE2 -NX_Q8NGZ5 35559 317 9.44 1 Cell membrane NA 7 PE3 -NX_Q8NGZ6 33961 308 8.9 1 Cell membrane NA 7 PE2 -NX_Q8NGZ9 35403 312 8.81 1 Cell membrane NA 7 PE2 -NX_Q8NH00 39414 348 7.2 1 Cell membrane NA 7 PE3 -NX_Q8NH01 34797 316 8.18 1 Cell membrane NA 7 PE3 -NX_Q8NH02 35595 315 8.59 1 Cell membrane NA 7 PE3 -NX_Q8NH03 35598 318 8.42 1 Cell membrane NA 7 PE2 -NX_Q8NH04 35514 317 8.47 1 Cell membrane NA 7 PE3 -NX_Q8NH05 35491 313 7.83 14 Cell membrane NA 7 PE3 -NX_Q8NH06 36638 330 8.32 17 Cell membrane NA 7 PE2 -NX_Q8NH07 36531 326 8.35 14 Cell membrane NA 7 PE3 -NX_Q8NH08 35157 325 9.34 7 Cell membrane NA 7 PE3 -NX_Q8NH09 39645 359 8.84 12 Cell membrane;Cell membrane NA 7 PE3 -NX_Q8NH10 35088 309 7.97 11 Cell membrane NA 7 PE3 -NX_Q8NH16 35495 312 8.94 1 Cell membrane NA 7 PE2 -NX_Q8NH18 34808 312 8.3 11 Cell membrane NA 7 PE3 -NX_Q8NH19 34105 301 9.07 11 Cell membrane NA 7 PE2 -NX_Q8NH21 34330 305 8.53 1 Cell membrane NA 7 PE3 -NX_Q8NH37 33726 302 6.68 11 Cell membrane NA 7 PE2 -NX_Q8NH40 36127 331 8.66 14 Cell membrane NA 7 PE3 -NX_Q8NH41 39088 348 9.1 14 Cell membrane NA 7 PE2 -NX_Q8NH42 34261 304 9.04 14 Cell membrane NA 7 PE3 -NX_Q8NH43 35264 312 9.03 14 Cell membrane NA 7 PE3 -NX_Q8NH48 35258 314 6.48 11 Cell membrane NA 7 PE3 -NX_Q8NH49 34222 305 8.74 11 Cell membrane NA 7 PE3 -NX_Q8NH50 35190 307 6.48 11 Cell membrane NA 7 PE3 -NX_Q8NH51 35463 312 8.02 11 Cell membrane NA 7 PE3 -NX_Q8NH53 35785 320 8.57 11 Cell membrane NA 7 PE3 -NX_Q8NH54 35611 315 8.82 11 Cell membrane NA 7 PE3 -NX_Q8NH55 36851 327 9.12 11 Cell membrane NA 7 PE3 -NX_Q8NH56 36212 324 8.88 11 Cell membrane NA 7 PE2 -NX_Q8NH57 34890 321 8.69 11 Cell membrane NA 7 PE5 -NX_Q8NH59 35747 317 8.69 11 Cell membrane NA 7 PE2 -NX_Q8NH60 35091 311 8.82 11 Cell membrane NA 7 PE3 -NX_Q8NH61 38518 342 9.06 11 Cell membrane NA 7 PE2 -NX_Q8NH63 33766 302 8.97 11 Cell membrane NA 7 PE3 -NX_Q8NH64 35132 312 9.12 11 Cell membrane NA 7 PE2 -NX_Q8NH67 38353 350 8.42 11 Cell membrane NA 7 PE2 -NX_Q8NH69 35167 310 6.57 11 Cell membrane NA 7 PE3 -NX_Q8NH70 36922 328 8.58 11 Cell membrane NA 7 PE3 -NX_Q8NH72 34558 309 8.45 11 Cell membrane NA 7 PE2 -NX_Q8NH73 35172 311 8.53 11 Cell membrane NA 7 PE3 -NX_Q8NH74 35318 314 8.37 11 Cell membrane NA 7 PE3 -NX_Q8NH76 35454 319 8.01 11 Cell membrane NA 7 PE2 -NX_Q8NH79 34727 312 9.1 11 Cell membrane NA 7 PE2 -NX_Q8NH80 34812 312 8.31 11 Cell membrane NA 7 PE5 -NX_Q8NH81 36823 332 7.53 11 Cell membrane NA 7 PE3 -NX_Q8NH83 34915 315 8.41 11 Cell membrane NA 7 PE3 -NX_Q8NH85 36708 324 8.61 11 Cell membrane NA 7 PE3 -NX_Q8NH87 34071 305 8.14 11 Cell membrane NA 7 PE3 -NX_Q8NH89 33542 298 7.55 11 Cell membrane NA 7 PE5 -NX_Q8NH90 34627 309 8.42 11 Cell membrane NA 7 PE2 -NX_Q8NH92 36707 325 8.79 11 Cell membrane NA 7 PE3 -NX_Q8NH93 36633 324 9.36 9 Cell membrane NA 7 PE2 -NX_Q8NH94 41046 360 9.01 9 Cell membrane NA 7 PE3 -NX_Q8NH95 16702 151 8.4 9 Cell membrane NA 3 PE5 -NX_Q8NHA4 36588 323 9.28 7 Cell membrane NA 7 PE2 -NX_Q8NHA6 35283 318 8.66 6 Cell membrane NA 7 PE5 -NX_Q8NHA8 36933 337 7.95 6 Cell membrane NA 7 PE3 -NX_Q8NHB1 34857 315 8.92 5 Cell membrane NA 7 PE3 -NX_Q8NHB7 35185 308 8.39 3 Cell membrane NA 7 PE2 -NX_Q8NHB8 35763 316 8.37 3 Cell membrane NA 7 PE2 -NX_Q8NHC4 34401 309 8.65 1 Cell membrane NA 7 PE2 -NX_Q8NHC5 34307 309 8.41 1 Cell membrane NA 7 PE3 -NX_Q8NHC6 34709 308 8.72 1 Cell membrane NA 7 PE5 -NX_Q8NHC7 34815 312 8.71 1 Cell membrane NA 7 PE3 -NX_Q8NHC8 34765 308 8.38 1 Cell membrane NA 7 PE3 -NX_Q8NHE4 9184 81 8.8 7 Membrane NA 2 PE2 -NX_Q8NHG7 8443 77 9.06 11 Smooth endoplasmic reticulum membrane;Membrane;Cell membrane;Golgi apparatus membrane NA 0 PE1 -NX_Q8NHG8 24115 242 6.64 7 Endosome membrane;Lysosome membrane;Presynaptic cell membrane NA 0 PE1 -NX_Q8NHH1 87612 800 9.08 9 Cilium basal body NA 0 PE1 -NX_Q8NHH9 66229 583 5.3 2 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q8NHJ6 49356 448 6.19 19 Cell membrane NA 1 PE1 -NX_Q8NHK3 40607 375 8.36 19 Cell membrane NA 1 PE3 -NX_Q8NHL6 70819 650 5.69 19 Cell membrane;Secreted NA 1 PE1 -NX_Q8NHM4 26537 247 5.64 7 Secreted NA 0 PE5 -NX_Q8NHM5 152615 1336 8.85 12 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q8NHP1 36964 331 6.27 1 NA NA 0 PE1 -NX_Q8NHP6 59746 518 5.7 X Endoplasmic reticulum;Cell membrane NA 1 PE1 -NX_Q8NHP7 58335 514 5.5 15 Cytoplasm NA 0 PE1 -NX_Q8NHP8 65472 589 6.34 12 Lysosome lumen NA 0 PE1 -NX_Q8NHQ1 69752 597 5.52 3 Centrosome;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8NHQ8 48327 419 6.21 12 Cytosol;Mitochondrion NA 0 PE1 -NX_Q8NHQ9 68547 600 9.32 12 Cytosol;Nucleus;Nucleolus NA 0 PE1 -NX_Q8NHR7 25316 220 7.12 15 Nucleus;Nucleolus;Telomere;Nucleus inner membrane;Centrosome NA 0 PE1 -NX_Q8NHR9 14319 129 8.76 2 Cytoskeleton NA 0 PE1 -NX_Q8NHS0 25686 232 6 3 NA NA 0 PE1 -NX_Q8NHS1 17984 167 7.56 19 Membrane;Nucleoplasm NA 4 PE2 -NX_Q8NHS2 47305 421 6.56 8 Cytoplasm NA 0 PE1 -NX_Q8NHS3 57628 518 6.41 4 Endosome;Nucleoplasm;Cytoplasmic vesicle;Lysosome membrane Ceroid lipofuscinosis, neuronal, 7;Macular dystrophy with central cone involvement 12 PE1 -NX_Q8NHS4 67250 586 6.09 2 Centrosome;Nucleolus NA 0 PE1 -NX_Q8NHS9 41318 363 9.45 17 Chromosome NA 0 PE1 -NX_Q8NHU0 21331 189 9.79 X NA NA 0 PE1 -NX_Q8NHU2 141349 1237 5.76 20 Cilium axoneme NA 0 PE1 -NX_Q8NHU3 42280 365 9.01 4 Golgi apparatus membrane;Cell membrane NA 6 PE1 -NX_Q8NHU6 123586 1098 6.84 9 Cytoplasm Cataract 36 0 PE1 -NX_Q8NHV1 34509 300 6.1 7 Lipid droplet;Cytoplasm;Endoplasmic reticulum;Golgi apparatus;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q8NHV4 71966 660 8.15 12 Centrosome NA 0 PE1 -NX_Q8NHV5 18250 167 8.6 16 NA NA 0 PE2 -NX_Q8NHV9 20542 184 5.77 X Nucleus NA 0 PE1 -NX_Q8NHW3 36982 353 7.49 8 Nucleus NA 0 PE1 -NX_Q8NHW4 10166 92 5.13 17 Secreted NA 0 PE1 -NX_Q8NHW5 34364 317 5.41 2 NA NA 0 PE5 -NX_Q8NHW6 9939 89 4.47 2 Secreted NA 0 PE2 -NX_Q8NHX4 20901 192 10.11 2 NA NA 0 PE1 -NX_Q8NHX9 85243 752 6.65 11 Lysosome membrane;Nucleolus NA 12 PE1 -NX_Q8NHY0 63258 566 8.79 17 Golgi apparatus membrane NA 1 PE1 -NX_Q8NHY2 80474 731 6.41 1 Cytoplasm;Nucleus speckle NA 0 PE1 -NX_Q8NHY3 96520 880 9.3 17 Cytoskeleton NA 0 PE1 -NX_Q8NHY5 30982 278 9.49 6 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8NHY6 98705 868 9.44 19 Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8NHZ7 22994 208 11.53 19 NA NA 0 PE2 -NX_Q8NHZ8 9777 85 6.32 9 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8NI08 106162 942 5.43 6 Cytoplasm;Golgi apparatus;Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_Q8NI17 82954 732 6.75 5 Cytoplasmic vesicle;Nucleoplasm;Cell membrane;Presynaptic cell membrane;Axon Amyloidosis, primary localized cutaneous, 2 1 PE1 -NX_Q8NI22 16390 146 4.51 2 Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum;Golgi apparatus Factor V and factor VIII combined deficiency 2 0 PE1 -NX_Q8NI27 182775 1593 8.67 X Nucleoplasm;Nucleus speckle;Nucleus Mental retardation, X-linked 12 0 PE1 -NX_Q8NI28 22304 216 11.7 7 Membrane NA 1 PE5 -NX_Q8NI29 31623 283 8.92 19 Nucleoplasm NA 0 PE1 -NX_Q8NI32 20656 183 7.97 2 Cell membrane NA 0 PE1 -NX_Q8NI35 196368 1801 4.84 1 Microtubule organizing center;Cell junction;Cytosol;Perinuclear region;Tight junction;Apical cell membrane;Cell membrane NA 0 PE1 -NX_Q8NI36 105322 951 7.33 5 Nucleolus;Nucleolus Glaucoma 1, open angle, G 0 PE1 -NX_Q8NI37 32646 304 4.99 12 Cytosol;Cell membrane NA 0 PE1 -NX_Q8NI38 33481 313 6.9 19 Mitochondrion;Nucleus NA 0 PE1 -NX_Q8NI51 75747 663 8.58 20 Cytoplasm;Nucleus NA 0 PE1 -NX_Q8NI60 71950 647 6.51 1 Mitochondrion;Membrane;Mitochondrion Coenzyme Q10 deficiency, primary, 4 1 PE1 -NX_Q8NI77 102281 898 9.09 11 Nucleus;Cytoskeleton;Ruffle;Cytoskeleton;Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q8NI99 51694 470 8.78 19 Secreted NA 0 PE1 -NX_Q8TA86 26107 221 9.8 7 Nucleus;Nucleus;Cytosol Retinitis pigmentosa 9 0 PE1 -NX_Q8TA94 55434 476 9.34 19 Nucleus NA 0 PE1 -NX_Q8TAA1 22427 199 6.1 14 Secreted NA 0 PE2 -NX_Q8TAA3 28530 256 9.07 18 Nucleus;Cytoplasm NA 0 PE1 -NX_Q8TAA5 25431 225 7.63 5 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q8TAA9 59975 524 8.94 1 Cell membrane;Cell membrane Neural tube defects;Sacral defect with anterior meningocele 4 PE1 -NX_Q8TAB3 126253 1148 5.19 X Cytosol;Cell membrane Epileptic encephalopathy, early infantile, 9 1 PE1 -NX_Q8TAB5 24968 229 5.17 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8TAB7 13192 109 9.51 8 NA NA 0 PE5 -NX_Q8TAC1 17762 157 6.37 5 Nucleoplasm NA 0 PE1 -NX_Q8TAC2 20756 188 6.91 19 Cytosol NA 0 PE1 -NX_Q8TAC9 26104 235 8.8 15 Golgi apparatus;Synaptic vesicle membrane;Cell membrane;Recycling endosome membrane;Golgi apparatus membrane;trans-Golgi network membrane NA 4 PE1 -NX_Q8TAD2 21893 202 9.25 13 Secreted NA 0 PE1 -NX_Q8TAD4 84047 765 6.87 5 Golgi apparatus;Nucleus;trans-Golgi network membrane NA 16 PE1 -NX_Q8TAD7 6407 63 6.11 12 Cytoplasmic vesicle NA 0 PE1 -NX_Q8TAD8 45778 396 10 1 Nucleoplasm;Cytosol;Nucleus Psychomotor retardation, epilepsy, and craniofacial dysmorphism 0 PE1 -NX_Q8TAE6 17843 165 5.09 6 Cytoplasm;Membrane NA 0 PE1 -NX_Q8TAE7 49593 436 8.6 2 Cytosol;Cell membrane;Cytoplasm NA 6 PE1 -NX_Q8TAE8 25384 222 10.03 19 Mitochondrion;Nucleus;Mitochondrion NA 0 PE1 -NX_Q8TAF3 76210 677 6.59 3 Cytoplasmic vesicle;Nucleus;Late endosome;Cytoplasm;Lysosome NA 0 PE1 -NX_Q8TAF5 10021 88 11.38 1 NA NA 0 PE5 -NX_Q8TAF7 66214 563 8.61 19 Golgi apparatus;Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q8TAF8 24201 219 6.69 6 Cell membrane Deafness, autosomal recessive, 67 4 PE1 -NX_Q8TAG5 25833 236 8.39 7 Secreted NA 0 PE1 -NX_Q8TAG6 22584 207 10.05 8 Nucleus;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q8TAG9 93722 804 5.82 10 Midbody ring;Growth cone;Nucleoplasm;Perinuclear region;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q8TAI1 13402 123 12.04 18 NA NA 0 PE5 -NX_Q8TAI7 20682 183 6.24 12 Centrosome;Nucleus;Endomembrane system;Cytoplasm NA 0 PE1 -NX_Q8TAK5 48650 448 5.15 1 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8TAK6 27905 271 9.71 21 Nucleus NA 0 PE1 -NX_Q8TAL5 52222 461 9.01 9 Cytosol NA 0 PE1 -NX_Q8TAL6 24273 211 5.3 11 Endoplasmic reticulum;Golgi apparatus;Secreted NA 0 PE1 -NX_Q8TAM1 80838 723 7.95 12 Cilium;Nucleoplasm Bardet-Biedl syndrome 10 0 PE1 -NX_Q8TAM2 61534 541 6.33 14 Centrosome;Cilium membrane;Cytoplasm;Centriolar satellite;Cilium Retinitis pigmentosa 51;Bardet-Biedl syndrome 8 0 PE1 -NX_Q8TAM6 32783 284 4.75 2 Cytoskeleton NA 0 PE1 -NX_Q8TAP4 16594 145 8.6 12 NA NA 0 PE1 -NX_Q8TAP6 74413 659 6.31 18 Centriole;Centrosome NA 0 PE1 -NX_Q8TAP8 27953 253 8.9 7 Nucleoplasm NA 0 PE1 -NX_Q8TAP9 19147 179 10.23 7 Nucleus;Golgi apparatus;Cytoplasmic vesicle;Cytoplasm;Centrosome;Nucleoplasm Trichothiodystrophy 4, non-photosensitive 0 PE1 -NX_Q8TAQ2 132879 1214 5.49 12 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8TAQ5 80247 688 8.94 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8TAQ9 40503 357 7.68 7 Golgi apparatus;Nucleus envelope;Nucleus inner membrane;Membrane NA 1 PE1 -NX_Q8TAS1 46546 419 5.59 1 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q8TAT2 27590 258 9.96 10 Secreted NA 0 PE1 -NX_Q8TAT5 67769 605 9.23 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8TAT6 68120 608 5.94 17 Nucleus;Cytosol;Cytosol;Endoplasmic reticulum;Nucleoplasm NA 0 PE1 -NX_Q8TAT8 10982 98 11.47 11 NA NA 0 PE5 -NX_Q8TAU0 38406 364 7.19 10 Nucleus;Cytosol;Nucleolus NA 0 PE1 -NX_Q8TAU3 65733 575 9.29 19 Nucleus NA 0 PE1 -NX_Q8TAV0 35049 307 9.33 1 NA NA 0 PE1 -NX_Q8TAV3 53844 490 9.03 7 Endoplasmic reticulum lumen;Cell membrane NA 0 PE1 -NX_Q8TAV4 32135 291 8.83 13 Cell membrane NA 1 PE1 -NX_Q8TAV5 15559 145 7.73 11 Cytosol;Secreted NA 0 PE2 -NX_Q8TAW3 60972 534 9.06 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8TAX0 29611 266 9.77 2 Nucleus;Nucleus NA 0 PE1 -NX_Q8TAX7 39159 377 8.99 4 Secreted Asthma 0 PE1 -NX_Q8TAX9 46786 411 5.15 17 Cytoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_Q8TAY7 28710 271 10.08 1 NA NA 0 PE2 -NX_Q8TAZ6 27496 248 9.91 16 Membrane NA 3 PE1 -NX_Q8TB03 36670 319 5.92 X Cytosol NA 0 PE1 -NX_Q8TB05 18954 177 6.13 16 Nucleus;Cell junction;Cytosol NA 0 PE1 -NX_Q8TB22 87899 786 7.08 17 Secreted;Nucleoplasm NA 0 PE1 -NX_Q8TB24 107854 985 6.17 14 Cytoplasm;Cytoplasmic vesicle;Early endosome NA 0 PE1 -NX_Q8TB33 10359 94 11.18 X NA NA 0 PE4 -NX_Q8TB36 41346 358 8.48 8 Cytosol;Mitochondrion;Mitochondrion outer membrane;Cytoplasm Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease 4A;Charcot-Marie-Tooth disease, recessive, intermediate type, A;Charcot-Marie-Tooth disease 2K 2 PE1 -NX_Q8TB37 34083 319 9.17 14 Mitochondrion;Mitochondrion Mitochondrial complex I deficiency 0 PE1 -NX_Q8TB40 38794 342 7.13 14 Nucleus NA 0 PE1 -NX_Q8TB45 46294 409 8.29 8 Nucleus;Cytoplasm;Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q8TB52 82304 745 5.21 6 Cytoskeleton NA 0 PE1 -NX_Q8TB61 47515 432 9.32 6 Golgi apparatus membrane;Cytoplasmic vesicle NA 9 PE1 -NX_Q8TB68 30930 274 8.91 5 Nucleoplasm;Cell membrane;Cytosol;Nucleus;Cell membrane;Postsynaptic cell membrane;Perinuclear region;Synapse;Dendrite NA 1 PE1 -NX_Q8TB69 63020 540 9.48 18 Nucleus;Nucleolus NA 0 PE1 -NX_Q8TB72 114216 1066 6.61 2 Cytosol;Cytoplasm;Cytoplasmic granule;Perinuclear region NA 0 PE1 -NX_Q8TB73 64673 568 9.07 4 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q8TB92 39514 370 6.12 6 Cytosol;Endoplasmic reticulum membrane NA 0 PE1 -NX_Q8TB96 68108 612 5.15 16 Secreted;Membrane;Cytoskeleton NA 1 PE1 -NX_Q8TBA6 83024 731 5.6 14 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q8TBB0 25691 222 8.99 4 Nucleus;Centrosome;Nucleus NA 0 PE1 -NX_Q8TBB1 80629 728 6.67 4 Cytoplasm;Cytosol;Cell junction NA 0 PE1 -NX_Q8TBB5 57892 520 5.52 16 Nucleolus NA 0 PE1 -NX_Q8TBB6 84052 771 5.13 3 Lysosome membrane Retinitis pigmentosa 68 15 PE1 -NX_Q8TBC3 76344 707 8.58 19 Cell junction;Lysosome NA 0 PE1 -NX_Q8TBC4 51852 463 5.3 3 Nucleus;Centrosome;Cell membrane;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8TBC5 54804 510 4.76 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8TBE0 84652 780 9.27 15 Nucleus;Chromosome;Nucleoplasm NA 0 PE1 -NX_Q8TBE1 18976 160 6.17 1 Postsynaptic cell membrane NA 3 PE2 -NX_Q8TBE3 25275 224 5.33 5 Membrane NA 1 PE2 -NX_Q8TBE7 46422 412 6.99 3 Endosome;Cytosol;Cell membrane NA 10 PE1 -NX_Q8TBE9 27813 248 6.01 20 Nucleus membrane NA 0 PE1 -NX_Q8TBF2 21223 198 6.2 1 Cytosol;Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q8TBF4 24592 217 8.69 12 Nucleoplasm NA 0 PE1 -NX_Q8TBF5 28788 258 5.91 3 Cytosol;Endoplasmic reticulum membrane;Nucleoplasm NA 1 PE1 -NX_Q8TBF8 42392 368 8.98 15 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8TBG4 55671 499 8.32 4 Nucleus;Mitochondrion NA 0 PE1 -NX_Q8TBG9 29166 265 6.07 3 Cell membrane;Golgi apparatus;Synaptic vesicle membrane;Synaptosome NA 4 PE1 -NX_Q8TBH0 44379 407 9.33 19 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8TBJ4 35795 325 7.04 9 Membrane;Nucleoplasm NA 6 PE1 -NX_Q8TBJ5 48811 459 9.52 3 Nucleus NA 0 PE2 -NX_Q8TBK2 53189 473 5.24 16 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q8TBK6 20967 192 8.69 5 Nucleus;Nucleolus NA 0 PE1 -NX_Q8TBM7 14243 123 9.7 10 Cell membrane;Nucleoplasm;Membrane NA 3 PE1 -NX_Q8TBM8 42516 379 8.79 4 Nucleus membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8TBN0 42637 382 6.07 11 Cytosol NA 0 PE1 -NX_Q8TBP0 86372 767 5.55 17 Cytoskeleton NA 0 PE1 -NX_Q8TBP5 19954 190 5.92 5 Cytosol;Membrane;Golgi apparatus NA 1 PE1 -NX_Q8TBP6 38125 338 9.43 7 Mitochondrion inner membrane NA 6 PE1 -NX_Q8TBQ9 8060 72 9.26 5 Golgi apparatus membrane NA 1 PE1 -NX_Q8TBR4 17020 150 5.92 7 NA NA 0 PE5 -NX_Q8TBR5 12399 109 12.01 19 NA NA 0 PE5 -NX_Q8TBR7 29383 257 9.57 17 Cell membrane NA 7 PE1 -NX_Q8TBX8 47300 421 6.36 12 Cytoplasmic vesicle;Cytoplasm;Membrane NA 0 PE1 -NX_Q8TBY0 60023 533 7.56 4 NA NA 0 PE1 -NX_Q8TBY8 119033 1022 5.94 16 Endoplasmic reticulum NA 0 PE1 -NX_Q8TBY9 129952 1149 4.99 12 Cytosol;Cell membrane;Golgi apparatus;Cilium axoneme NA 0 PE1 -NX_Q8TBZ0 96726 833 5.88 4 Nucleus NA 0 PE1 -NX_Q8TBZ2 108153 947 7.13 17 Cytoplasmic vesicle;Cytoplasm;Membrane NA 0 PE1 -NX_Q8TBZ3 62893 569 8.26 14 NA NA 0 PE1 -NX_Q8TBZ5 62920 544 9.02 3 Nucleus NA 0 PE1 -NX_Q8TBZ6 39719 339 7.29 4 Cytosol;Nucleoplasm;Nucleolus;Nucleolus;Cytoskeleton;Nucleus Microcephaly, short stature, and impaired glucose metabolism 1 0 PE1 -NX_Q8TBZ8 63735 553 8.99 19 Golgi apparatus;Nucleus NA 0 PE1 -NX_Q8TBZ9 29483 253 7.21 7 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q8TC05 80735 714 9.16 12 Centrosome;Centrosome;Nucleus;Cytosol;Centriole NA 0 PE1 -NX_Q8TC07 79491 691 5.44 12 Cytoplasm;Mitochondrion;Cytosol;Cytoplasm NA 0 PE1 -NX_Q8TC12 35386 318 9.05 14 Endoplasmic reticulum membrane Retinal dystrophy, juvenile cataracts, and short stature syndrome 1 PE1 -NX_Q8TC17 13442 118 7.89 17 NA NA 0 PE2 -NX_Q8TC20 90250 777 5.21 6 NA NA 0 PE1 -NX_Q8TC21 58513 504 9.19 8 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q8TC26 31469 289 7.06 2 Synaptic vesicle membrane;Early endosome membrane NA 6 PE1 -NX_Q8TC27 87948 787 5.39 8 Nucleus;Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q8TC29 29454 256 9.34 10 Flagellum NA 0 PE1 -NX_Q8TC36 43081 379 8.61 20 Nucleus inner membrane Spermatogenic failure 16 1 PE1 -NX_Q8TC41 59372 542 7.65 6 Membrane NA 1 PE1 -NX_Q8TC44 53668 478 6.79 12 Centriole;Cilium basal body;Spindle pole Cone-rod dystrophy 20 0 PE1 -NX_Q8TC56 64756 605 9.52 5 Nucleus NA 0 PE1 -NX_Q8TC57 59386 530 6.4 2 Cytoplasm;Mitochondrion;Nucleolus NA 0 PE1 -NX_Q8TC59 109849 973 9.16 8 Cytoplasm NA 0 PE1 -NX_Q8TC71 61109 538 8.93 4 Mitochondrion outer membrane;Cytoplasm NA 0 PE1 -NX_Q8TC76 40728 370 9.45 8 Mitochondrion;Cytoplasm;Centrosome;Cytosol NA 0 PE1 -NX_Q8TC84 38341 345 8.93 10 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q8TC90 46482 406 4.64 12 NA NA 0 PE1 -NX_Q8TC92 73348 643 5.4 13 Extracellular space;Cell membrane;Cell membrane NA 0 PE1 -NX_Q8TC94 45627 416 6.61 19 Cytoskeleton NA 0 PE1 -NX_Q8TC99 35921 324 5.01 17 NA NA 0 PE1 -NX_Q8TCA0 20509 184 6.11 10 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8TCB0 50491 444 6.44 1 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q8TCB6 35271 317 8.71 11 Cell membrane NA 7 PE2 -NX_Q8TCB7 33251 284 5.85 3 Cytoplasmic vesicle NA 0 PE1 -NX_Q8TCC3 18546 161 10.01 2 Mitochondrion NA 0 PE1 -NX_Q8TCC7 59856 542 9.07 11 Basolateral cell membrane NA 11 PE1 -NX_Q8TCD1 8669 76 9.24 18 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q8TCD5 23383 201 6.18 17 Cytoplasm;Cytosol NA 0 PE1 -NX_Q8TCD6 27769 241 6.31 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q8TCE6 40513 357 6.15 10 NA NA 0 PE1 -NX_Q8TCE9 16094 139 6.4 19 Nucleus NA 0 PE1 -NX_Q8TCF1 30787 268 7.14 8 Centrosome;Cytosol NA 0 PE1 -NX_Q8TCG1 102185 905 5.85 3 Cell membrane;Cytosol;Membrane;Cytoplasm NA 1 PE1 -NX_Q8TCG2 54744 481 5.71 4 Cytosol;Cytoplasm;Membrane NA 0 PE1 -NX_Q8TCG5 90989 803 8.33 19 Centrosome;Mitochondrion outer membrane;Synapse;Dendrite;Axon;Endoplasmic reticulum Spastic paraplegia 73, autosomal dominant 2 PE1 -NX_Q8TCH9 14227 128 7.15 22 NA NA 0 PE2 -NX_Q8TCI5 21973 191 9.91 1 Cytoplasmic vesicle;trans-Golgi network;Cytoplasm NA 0 PE1 -NX_Q8TCJ0 43313 367 8.35 8 Nucleus NA 0 PE1 -NX_Q8TCJ2 93674 826 9.04 3 Endoplasmic reticulum;Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1X 11 PE1 -NX_Q8TCN5 105767 953 5.47 19 Nucleolus;Cytosol;Nucleus NA 0 PE1 -NX_Q8TCP9 66276 573 5.82 7 Membrane NA 1 PE1 -NX_Q8TCQ1 32308 289 8.76 4 Mitochondrion;trans-Golgi network membrane;Lysosome membrane;Cytoplasmic vesicle membrane;Late endosome membrane;Early endosome membrane;Cell membrane NA 2 PE1 -NX_Q8TCS8 85951 783 7.87 2 Cytoplasm;Mitochondrion;Mitochondrion;Mitochondrion intermembrane space Combined oxidative phosphorylation deficiency 13;Deafness, autosomal recessive, 70 0 PE1 -NX_Q8TCT0 59977 537 8.54 22 Cytoplasm;Membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q8TCT1 29713 267 7.64 17 NA NA 0 PE1 -NX_Q8TCT6 42563 385 8.6 12 Cell membrane;Endoplasmic reticulum membrane;Cytoplasmic vesicle;Golgi apparatus;Membrane NA 9 PE1 -NX_Q8TCT7 64644 592 8.67 19 Centrosome;Nucleoplasm;Cell membrane;Cell membrane;Lysosome membrane;Golgi apparatus membrane;Endosome membrane;Membrane NA 9 PE1 -NX_Q8TCT8 58143 520 8.65 15 Cytoplasmic vesicle;Lysosome membrane;Membrane;Late endosome membrane NA 9 PE1 -NX_Q8TCT9 41488 377 6 20 Endoplasmic reticulum;Endoplasmic reticulum;Endoplasmic reticulum membrane;Membrane;Cell membrane NA 9 PE1 -NX_Q8TCU3 52114 470 9.08 8 Membrane NA 12 PE2 -NX_Q8TCU4 460965 4167 5.87 2 Cytosol;Spindle pole;Cilium basal body;Centrosome;Cytoplasm Alstrom syndrome 0 PE1 -NX_Q8TCU5 125465 1115 7.4 9 Cell membrane;Postsynaptic cell membrane;Postsynaptic density NA 3 PE1 -NX_Q8TCU6 186203 1659 6.03 20 Cell membrane;Cytosol;Cytoplasm;Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_Q8TCV5 24238 224 8.4 20 Secreted NA 0 PE1 -NX_Q8TCW7 45530 415 7.92 3 Cytoplasmic vesicle membrane;Extracellular matrix NA 1 PE2 -NX_Q8TCW9 44770 393 8.68 2 Cell membrane NA 7 PE1 -NX_Q8TCX1 39625 351 7.1 2 Cytosol;Cytoplasm;Cilium;Cilium basal body;Cilium axoneme;Centrosome Short-rib thoracic dysplasia 15 with polydactyly 0 PE1 -NX_Q8TCX5 76292 695 7.88 8 Nucleoplasm NA 0 PE1 -NX_Q8TCY0 7880 68 9.49 21 Membrane NA 1 PE3 -NX_Q8TCY5 19136 172 7.75 21 Cell membrane;Endoplasmic reticulum membrane Glucocorticoid deficiency 2 1 PE1 -NX_Q8TCY9 104987 931 6 7 Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_Q8TCZ2 27986 262 4.92 X Cell membrane;Golgi apparatus;Cell membrane;Cell junction;Cell membrane;Golgi apparatus;Cytoskeleton NA 1 PE1 -NX_Q8TCZ7 5991 52 8.8 21 NA NA 0 PE5 -NX_Q8TD06 19171 166 7.76 7 Endoplasmic reticulum;Endoplasmic reticulum NA 0 PE1 -NX_Q8TD07 30122 263 8.45 6 Cytosol;Focal adhesion;Secreted;Membrane NA 1 PE1 -NX_Q8TD08 59832 544 9.17 8 Cytosol;Nucleoplasm;Cell junction NA 0 PE1 -NX_Q8TD10 51537 442 5.55 14 Cytosol NA 0 PE1 -NX_Q8TD16 93533 824 5.35 9 Nucleus envelope;Nuclear pore complex;Cytoskeleton;Golgi apparatus;Cell membrane;Cytoplasm;Golgi apparatus;Cytosol Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant 0 PE1 -NX_Q8TD17 71311 642 6.2 7 Nucleus;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q8TD19 107168 979 5.51 14 Cytoplasm;Nucleus;Mitochondrion Lethal congenital contracture syndrome 10;Nevus comedonicus;Arthrogryposis, Perthes disease, and upward gaze palsy 0 PE1 -NX_Q8TD20 66966 617 8.66 6 Cell junction;Endomembrane system;Cell membrane;Perinuclear region NA 12 PE1 -NX_Q8TD22 37124 340 9.4 2 Mitochondrion;Mitochondrion membrane;Nucleoplasm NA 4 PE1 -NX_Q8TD23 66299 568 9.11 19 Nucleus NA 0 PE1 -NX_Q8TD26 305412 2715 5.9 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8TD30 57904 523 7.85 16 Mitochondrion Mental retardation, autosomal recessive 49 0 PE1 -NX_Q8TD31 88671 782 5.76 6 Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8TD33 10414 95 4.55 11 Secreted NA 0 PE3 -NX_Q8TD35 21508 194 10.61 20 NA NA 0 PE1 -NX_Q8TD43 134301 1214 8.49 19 Golgi apparatus;Nucleoplasm;Cell membrane;Endoplasmic reticulum;Cell membrane Progressive familial heart block 1B 6 PE1 -NX_Q8TD46 36620 325 8.19 3 Cell membrane;Secreted NA 1 PE1 -NX_Q8TD47 29295 263 10.1 Y NA NA 0 PE2 -NX_Q8TD55 53350 490 5.34 15 Cytosol;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q8TD57 470771 4116 6.04 16 Cytoskeleton;Nucleus membrane;Cilium axoneme NA 0 PE1 -NX_Q8TD84 224463 2053 8.43 11 Cell membrane;Synapse NA 1 PE1 -NX_Q8TD86 20690 181 4.47 1 Cytoplasm;Nucleus NA 0 PE2 -NX_Q8TD90 60378 523 5 X NA NA 0 PE2 -NX_Q8TD91 71909 643 4.77 X NA NA 0 PE1 -NX_Q8TD94 33124 323 8.26 7 Nucleus NA 0 PE1 -NX_Q8TDB4 25390 240 4.4 4 Mitochondrion outer membrane;Mitochondrion;Mitochondrion NA 1 PE1 -NX_Q8TDB6 83554 740 8.31 3 Cytosol;Cytoplasm;Nucleus;Nucleoplasm;Early endosome membrane;Lysosome membrane NA 0 PE1 -NX_Q8TDB8 56320 520 8 12 Membrane NA 12 PE1 -NX_Q8TDC0 27157 251 9.42 5 Z line NA 0 PE1 -NX_Q8TDC3 85087 778 9.39 19 Cytoplasm;Nucleoplasm;Centrosome;Nucleus;Synapse NA 0 PE1 -NX_Q8TDD1 98595 881 10.03 12 Golgi apparatus;Nucleolus;Nucleolus;Nucleus NA 0 PE1 -NX_Q8TDD2 44994 431 8.67 12 Nucleus Osteogenesis imperfecta 12 0 PE1 -NX_Q8TDD5 64248 553 5.8 1 Nucleolus;Cytosol;Membrane;Late endosome membrane;Lysosome membrane;Cell membrane;Early endosome membrane;Autophagosome membrane NA 6 PE1 -NX_Q8TDE3 17041 154 8.69 14 Secreted NA 0 PE1 -NX_Q8TDF5 60191 533 6.61 18 Golgi apparatus;Postsynaptic density;Secreted;Cell membrane NA 1 PE1 -NX_Q8TDF6 74882 673 8.34 19 Cell membrane;Cytoplasm NA 0 PE1 -NX_Q8TDG2 41696 376 6.32 X Cytoskeleton NA 0 PE2 -NX_Q8TDG4 124131 1101 6.17 4 Nucleus speckle;Nucleoplasm NA 0 PE1 -NX_Q8TDH9 21609 187 7.14 6 Cytoplasmic vesicle NA 0 PE1 -NX_Q8TDI0 223050 1954 5.82 1 Nucleus;Nucleoplasm;Nucleus speckle;Cytosol NA 0 PE1 -NX_Q8TDI7 102610 906 9.5 20 Cell membrane NA 6 PE2 -NX_Q8TDI8 87768 760 6.22 9 Cell membrane Deafness, autosomal dominant, 36;Deafness, autosomal recessive, 7 6 PE1 -NX_Q8TDJ6 339641 3036 5.93 15 Synaptic vesicle membrane Deafness, autosomal dominant, 71;Polyendocrine-polyneuropathy syndrome 0 PE1 -NX_Q8TDL5 52442 484 6.72 20 Secreted NA 0 PE1 -NX_Q8TDM0 22758 211 5.59 20 Cytoskeleton;Cytosol;Cytoplasm NA 0 PE1 -NX_Q8TDM5 13004 124 5.49 19 Acrosome;Cell membrane NA 0 PE1 -NX_Q8TDM6 213868 1919 7.1 10 Cell junction;Cell membrane;Cell junction;Cilium basal body;Postsynaptic density NA 0 PE1 -NX_Q8TDN1 58979 519 6.23 16 Cell membrane NA 6 PE1 -NX_Q8TDN2 62459 545 6.08 9 Cell membrane Cone dystrophy retinal 3B 6 PE1 -NX_Q8TDN4 67599 633 9.32 18 Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8TDN6 41401 353 9.92 5 Nucleolus;Nucleolus;Nucleolus;Nucleus NA 0 PE1 -NX_Q8TDN7 31095 264 6.64 19 Endoplasmic reticulum membrane NA 7 PE2 -NX_Q8TDP1 17840 164 4.95 11 Nucleus;Nucleus Aicardi-Goutieres syndrome 3 0 PE1 -NX_Q8TDQ0 33394 301 5.54 5 Membrane;Cell junction;Nucleoplasm NA 1 PE1 -NX_Q8TDQ1 32335 290 5.45 17 Cell membrane NA 1 PE1 -NX_Q8TDQ7 31085 276 6.45 4 Cytoplasm NA 0 PE1 -NX_Q8TDR0 78632 691 7.95 2 Cilium;Cilium axoneme;Cilium basal body;Cytoskeleton Senior-Loken syndrome 9 0 PE1 -NX_Q8TDR2 58051 534 9.78 20 Nucleus;Nucleus;Nucleolus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8TDR4 23863 215 9.71 21 Nucleus NA 0 PE1 -NX_Q8TDS4 41850 363 9.34 12 Cell membrane NA 7 PE1 -NX_Q8TDS5 45811 423 9.75 2 Cell membrane NA 7 PE1 -NX_Q8TDS7 36118 321 9.25 11 Cell membrane NA 7 PE2 -NX_Q8TDT2 50962 470 4.59 11 Cell membrane NA 7 PE2 -NX_Q8TDU5 23857 208 9.14 1 Cell membrane NA 5 PE5 -NX_Q8TDU6 35248 330 9.62 2 Cell membrane NA 7 PE2 -NX_Q8TDU9 41141 374 10.32 1 Cell membrane NA 7 PE1 -NX_Q8TDV0 46637 419 6.13 5 Cell membrane NA 7 PE2 -NX_Q8TDV2 38288 347 8.81 2 Cell membrane NA 7 PE2 -NX_Q8TDV5 36889 335 9.1 X Cell membrane NA 7 PE1 -NX_Q8TDW0 92450 803 7.54 1 Cell membrane;Golgi apparatus;Endoplasmic reticulum membrane NA 4 PE1 -NX_Q8TDW4 64779 575 7.26 1 Centrosome;Membrane NA 2 PE1 -NX_Q8TDW5 81523 730 8.96 X Cytoskeleton;Cytosol;Nucleoplasm;Membrane NA 0 PE1 -NX_Q8TDW7 505523 4589 4.71 11 Membrane NA 1 PE1 -NX_Q8TDX5 38035 336 6.52 2 Cytosol NA 0 PE1 -NX_Q8TDX6 61294 532 8.63 8 Golgi stack membrane;Cytoskeleton NA 1 PE1 -NX_Q8TDX7 34551 302 8.49 1 Centrosome;Nucleus;Nucleoplasm;Cytoplasm;Spindle pole NA 0 PE1 -NX_Q8TDX9 315435 2849 6.64 7 Cilium membrane Heterotaxy, visceral, 8, autosomal 11 PE1 -NX_Q8TDY2 183091 1594 5.3 8 Cytosol;Nucleus;Cytoplasm;Cytosol;Preautophagosomal structure;Nucleus membrane NA 0 PE1 -NX_Q8TDY3 41702 377 5.28 1 Cytoskeleton NA 0 PE1 -NX_Q8TDY4 99155 903 5.98 1 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q8TDY8 134210 1250 5.81 15 Nucleoplasm;Cytosol;Cell membrane NA 1 PE1 -NX_Q8TDZ2 117875 1067 6 6 Cytoskeleton;Cytoplasm;Midbody NA 0 PE1 -NX_Q8TE02 34841 316 4.81 17 Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_Q8TE04 64339 598 7.51 10 Cytoplasm NA 0 PE1 -NX_Q8TE12 42747 382 7.03 1 Nucleus;Nucleoplasm;Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q8TE23 95183 839 6.08 1 Cell membrane NA 7 PE3 -NX_Q8TE49 100677 926 8.68 15 Nucleus;Cytoplasm;Nucleolus;Cytosol NA 0 PE1 -NX_Q8TE54 72213 656 8.17 8 Recycling endosome membrane NA 11 PE1 -NX_Q8TE56 121127 1095 8.47 15 Nucleus;Extracellular matrix Weill-Marchesani-like syndrome 0 PE2 -NX_Q8TE57 136203 1224 8.99 5 Extracellular matrix NA 0 PE1 -NX_Q8TE58 103287 950 8.94 11 Cytosol;Extracellular matrix NA 0 PE1 -NX_Q8TE59 134048 1207 7.8 5 Cytoplasmic vesicle;Midbody;Extracellular matrix NA 0 PE1 -NX_Q8TE60 135167 1221 8.91 16 Extracellular matrix Microcornea, myopic chorioretinal atrophy, and telecanthus 0 PE1 -NX_Q8TE67 66861 593 8.09 1 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q8TE68 80251 723 5.76 19 Cytosol;Cytoplasm NA 0 PE1 -NX_Q8TE69 17921 158 6.43 X NA NA 0 PE1 -NX_Q8TE73 529021 4624 5.79 5 Cilium axoneme Ciliary dyskinesia, primary, 3 0 PE1 -NX_Q8TE76 106348 937 7.22 X Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8TE77 72996 659 5.19 11 Nucleus speckle;Cytosol;Cytoskeleton;Cell membrane;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q8TE82 146961 1336 5.85 4 Nucleolus;Cytosol;Nucleus NA 0 PE1 -NX_Q8TE85 70345 626 6.4 1 Nucleus;Nucleoplasm Van der Woude syndrome 2 0 PE1 -NX_Q8TE96 79476 717 4.93 2 Nucleus;Cell membrane;Cytosol NA 0 PE1 -NX_Q8TE99 55240 480 9.17 3 Golgi apparatus membrane NA 1 PE1 -NX_Q8TEA1 51770 469 8.18 10 Golgi apparatus NA 0 PE1 -NX_Q8TEA7 100679 893 6.12 4 Cytoplasm;Nucleolus;Nucleoplasm;Spindle;Midbody Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 PE1 -NX_Q8TEA8 23424 209 8.35 20 Cytoplasm;Nucleolus;Cytosol;Nucleus NA 0 PE1 -NX_Q8TEB1 61670 546 5.97 14 Nucleoplasm NA 0 PE1 -NX_Q8TEB7 46521 428 5.92 X Endomembrane system;Cytoskeleton;Perinuclear region NA 1 PE1 -NX_Q8TEB9 35823 315 8.47 2 Endoplasmic reticulum membrane;Membrane;Mitochondrion;Endoplasmic reticulum NA 4 PE1 -NX_Q8TEC5 79320 729 9.96 5 Nucleoplasm NA 0 PE1 -NX_Q8TED0 58415 518 9.18 5 Endoplasmic reticulum;Nucleolus;Nucleolus NA 0 PE1 -NX_Q8TED1 23881 209 9.41 5 Cytoskeleton;Cytosol;Membrane NA 1 PE1 -NX_Q8TED4 54436 501 6.36 11 Endoplasmic reticulum membrane NA 12 PE1 -NX_Q8TED9 86432 768 6.38 5 Cytoplasm;Podosome;Invadopodium NA 0 PE1 -NX_Q8TEE9 20873 199 7.64 7 Cytoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q8TEF2 14519 133 8.75 10 Membrane NA 1 PE2 -NX_Q8TEH3 110577 1009 6.51 9 Presynaptic cell membrane;Cytoplasmic vesicle;Cytosol;Clathrin-coated vesicle membrane;Nucleoplasm NA 0 PE1 -NX_Q8TEJ3 92776 882 9.09 2 Nucleoplasm;Cytosol;Centrosome NA 0 PE1 -NX_Q8TEK3 184853 1739 9.39 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8TEL6 90852 797 7.54 20 Cytosol NA 0 PE1 -NX_Q8TEM1 205111 1887 6.33 3 Nuclear pore complex;Nucleus membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8TEP8 213146 1941 6.09 18 Cytosol;Centriole;Centrosome NA 0 PE1 -NX_Q8TEQ0 91254 813 5.86 16 NA NA 0 PE1 -NX_Q8TEQ6 168589 1508 6.17 5 Cytosol;Cytoplasm;Gem;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8TEQ8 118699 1089 8.38 9 Nucleolus;Endoplasmic reticulum membrane;Nucleus Hyperphosphatasia with mental retardation syndrome 2 14 PE1 -NX_Q8TER0 152204 1413 6.59 2 Secreted NA 0 PE1 -NX_Q8TER5 164658 1519 5.8 14 Cytoplasm NA 0 PE1 -NX_Q8TES7 125446 1133 6.62 17 Cell junction;Spindle pole;Centrosome;Centriole NA 0 PE1 -NX_Q8TET4 104334 914 5.82 15 Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q8TEU7 179423 1601 5.98 5 Centrosome;Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8TEU8 63941 576 5.85 17 Secreted NA 0 PE1 -NX_Q8TEV8 15285 140 10.67 17 NA NA 0 PE2 -NX_Q8TEV9 105022 937 5.36 17 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q8TEW0 151423 1356 7.41 10 Adherens junction;Cell membrane;Cell junction;Cytoplasm;Endomembrane system;Cell junction;Tight junction;Cell cortex;Cytoskeleton NA 0 PE1 -NX_Q8TEW6 37028 326 8.37 16 Cytoskeleton;Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 -NX_Q8TEW8 132494 1205 8.54 2 Endomembrane system;Cell junction;Cell junction;Tight junction NA 0 PE1 -NX_Q8TEX9 118715 1081 4.88 14 Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_Q8TEY5 43432 395 5.28 1 Nucleus;Endoplasmic reticulum membrane;Golgi apparatus membrane;Nucleoplasm;Nucleus membrane;Mitochondrion NA 1 PE1 -NX_Q8TEY7 106727 942 5.69 1 Perinuclear region;Centrosome;Golgi apparatus;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q8TEZ7 40464 354 8.69 6 Cell membrane;Cell membrane;Golgi apparatus NA 7 PE1 -NX_Q8TF01 92577 805 10.02 6 Cytosol;Nucleus speckle;Nucleus speckle NA 0 PE1 -NX_Q8TF05 107004 950 4.64 18 Nucleoplasm NA 0 PE1 -NX_Q8TF08 9077 81 9.74 4 Mitochondrion inner membrane NA 1 PE2 -NX_Q8TF09 10855 96 6.91 16 Cytoskeleton NA 0 PE1 -NX_Q8TF17 144777 1288 5.95 5 Nucleoplasm;Cytosol Mononeuropathy of the median nerve mild;Charcot-Marie-Tooth disease 4C 0 PE1 -NX_Q8TF20 105084 911 9.55 4 Nucleus NA 0 PE1 -NX_Q8TF21 124187 1146 4.98 19 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q8TF27 60549 550 7.82 10 NA NA 0 PE2 -NX_Q8TF30 90924 809 6.67 15 Cytoplasm;Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;Cytoplasmic vesicle membrane;cis-Golgi network NA 0 PE1 -NX_Q8TF32 67217 576 9.03 19 Nucleus NA 0 PE1 -NX_Q8TF39 85098 744 8.88 9 Nucleolus;Nucleus NA 0 PE1 -NX_Q8TF40 130555 1166 5.33 5 Cytoplasm NA 0 PE1 -NX_Q8TF42 72696 649 6.48 11 Cell membrane;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8TF44 44576 421 9.75 19 Cytoplasmic vesicle NA 0 PE1 -NX_Q8TF45 77858 676 8.75 19 Nucleus NA 0 PE1 -NX_Q8TF46 120787 1054 6.09 15 Cytosol;Centrosome;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8TF47 73031 636 8.37 16 Cell membrane;Nucleus;Cytoplasmic vesicle;Centrosome NA 0 PE1 -NX_Q8TF50 73622 670 6.01 19 Golgi apparatus;Nucleus;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q8TF61 94496 875 8.6 2 Nucleus;Cell membrane;Cytosol NA 0 PE1 -NX_Q8TF62 135868 1192 6.56 15 Nucleoplasm;Golgi apparatus;Cell membrane;Cytoplasmic vesicle NA 10 PE1 -NX_Q8TF63 26704 244 9.97 5 Nucleus;Cytoplasm NA 0 PE1 -NX_Q8TF64 33982 312 5.5 19 Nucleus;Nucleoplasm;Golgi apparatus Deafness, autosomal recessive, 15 0 PE1 -NX_Q8TF65 34354 315 6.07 1 Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8TF66 64366 581 6.24 3 Cytoplasmic vesicle;Cell membrane;Membrane NA 1 PE1 -NX_Q8TF68 63219 577 9.18 12 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8TF71 55493 515 7.87 6 Cell membrane;Basolateral cell membrane;Cytoplasmic vesicle;Cell junction NA 12 PE1 -NX_Q8TF72 216857 1996 7.87 4 Cytoskeleton;Adherens junction NA 0 PE1 -NX_Q8TF74 46289 440 10.93 17 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q8TF76 88495 798 9.32 17 Chromosome;Spindle;Nucleus;Nucleus NA 0 PE1 -NX_Q8WTP8 36350 325 9.4 15 Nucleolus;Nucleus membrane;Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q8WTP9 12302 111 4.4 X NA NA 0 PE1 -NX_Q8WTQ1 8526 72 9.41 8 Secreted NA 0 PE1 -NX_Q8WTQ4 30819 265 9.8 16 NA NA 0 PE1 -NX_Q8WTQ7 62212 553 6.18 3 Membrane NA 0 PE1 -NX_Q8WTR2 24194 217 6.11 2 Nucleoplasm NA 0 PE1 -NX_Q8WTR4 68586 605 7.64 11 Golgi apparatus;Endomembrane system;Perinuclear region;Growth cone NA 6 PE1 -NX_Q8WTR7 100182 871 8.63 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8WTR8 53174 489 9.63 19 Endoplasmic reticulum;Secreted NA 0 PE2 -NX_Q8WTS1 39096 349 6.17 3 Cytoplasm;Lipid droplet;Cytoplasmic vesicle Chanarin-Dorfman syndrome 0 PE1 -NX_Q8WTS6 40721 366 4.5 4 Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_Q8WTT0 25038 213 6.59 12 Cell membrane NA 1 PE1 -NX_Q8WTT2 92548 800 9.22 10 Nucleolus;Nucleus speckle;Nucleolus;Nucleus NA 0 PE1 -NX_Q8WTU0 44124 396 5.51 11 NA NA 0 PE1 -NX_Q8WTU2 60819 575 5.57 7 Secreted NA 0 PE1 -NX_Q8WTV0 60878 552 8.55 12 Cytoplasmic vesicle;Caveola;Cell membrane NA 2 PE1 -NX_Q8WTV1 27059 239 10.26 1 Nucleus NA 0 PE1 -NX_Q8WTW3 108978 980 6.96 17 Golgi apparatus membrane Congenital disorder of glycosylation 2G 0 PE1 -NX_Q8WTW4 43658 380 6.1 3 Cytosol;Lysosome membrane Epilepsy, familial focal, with variable foci 2 0 PE1 -NX_Q8WTX7 36275 329 5.05 22 Cytosol NA 0 PE1 -NX_Q8WTX9 54818 485 10.35 16 Cytosol;Membrane NA 4 PE2 -NX_Q8WTZ3 27158 238 8.81 19 Nucleus NA 0 PE2 -NX_Q8WTZ4 22622 195 10.76 X NA NA 0 PE5 -NX_Q8WU03 34277 294 6.22 11 Endoplasmic reticulum;Mitochondrion NA 0 PE1 -NX_Q8WU08 46369 396 6.87 5 Cell membrane;Centrosome NA 0 PE1 -NX_Q8WU10 55793 500 5.58 12 Nucleus speckle;Sarcomere;Nucleus Myopathy, myofibrillar, 8 0 PE1 -NX_Q8WU17 75994 664 5.99 8 Endoplasmic reticulum membrane Renal cell carcinoma 12 PE1 -NX_Q8WU20 57029 508 5.65 12 Cell junction;Endomembrane system NA 0 PE1 -NX_Q8WU39 20694 189 5.37 5 Secreted;Cytoplasm;Endoplasmic reticulum lumen NA 0 PE1 -NX_Q8WU43 13691 125 5.92 2 NA NA 0 PE1 -NX_Q8WU49 19475 177 10.26 7 NA NA 0 PE2 -NX_Q8WU58 59652 562 9.35 17 Nucleoplasm NA 0 PE1 -NX_Q8WU66 74924 669 6.01 21 Secreted;Cell surface;Stereocilium Deafness, autosomal recessive, 98 0 PE1 -NX_Q8WU67 46009 409 6.7 18 Membrane;Nucleus;Cell membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q8WU68 25744 220 6.7 19 Nucleoplasm;Nucleus;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q8WU76 75127 684 6.21 4 Nucleus NA 0 PE1 -NX_Q8WU79 46786 429 9.01 1 Cytoplasm NA 0 PE1 -NX_Q8WU90 48602 426 5.22 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q8WUA2 57225 492 5.63 6 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8WUA4 100680 911 6.94 2 Nucleus NA 0 PE1 -NX_Q8WUA7 59121 517 5.63 22 Nucleoplasm;Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q8WUA8 37807 353 6.38 11 Nucleus;Nucleus;Secreted NA 0 PE1 -NX_Q8WUB2 30792 273 9.39 12 Cytoskeleton NA 0 PE1 -NX_Q8WUB8 56051 498 6.23 6 Nucleus;Nucleus NA 0 PE1 -NX_Q8WUD1 24214 216 7.69 14 Cell membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane NA 0 PE1 -NX_Q8WUD4 19181 166 6.81 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8WUD6 45097 406 6.45 12 Cytoplasmic vesicle;Golgi apparatus membrane NA 8 PE1 -NX_Q8WUE5 29052 264 5.26 X NA NA 0 PE1 -NX_Q8WUF5 89091 828 6.37 19 Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8WUF8 47972 416 5.75 5 Endoplasmic reticulum;Cytosol;Secreted;Nucleoplasm NA 0 PE1 -NX_Q8WUG5 57686 538 7.14 14 Cell membrane;Vacuole membrane NA 11 PE1 -NX_Q8WUH1 16111 139 5.35 14 Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q8WUH2 97158 860 6.1 2 Early endosome;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q8WUH6 11748 116 9.3 12 Membrane NA 2 PE1 -NX_Q8WUI4 102927 952 7.24 12 Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q8WUJ0 25492 223 5.89 14 Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q8WUJ1 28690 264 8.73 17 Secreted;Nucleolus;Nucleus membrane;Centrosome NA 0 PE1 -NX_Q8WUJ3 152998 1361 7.98 15 Endoplasmic reticulum;Cell membrane;Clathrin-coated pit;Secreted;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8WUK0 22844 201 9.8 11 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_Q8WUM0 128979 1156 4.97 1 Nuclear pore complex;Kinetochore;Nucleus membrane NA 0 PE1 -NX_Q8WUM4 96023 868 6.13 3 Cytosol;Midbody ring;Cytosol;Melanosome;Centrosome;Tight junction;Exosome NA 0 PE1 -NX_Q8WUM9 73700 679 6.65 2 Membrane;Cytoplasmic vesicle NA 10 PE1 -NX_Q8WUN7 26190 234 5.45 5 Cytoplasm NA 0 PE1 -NX_Q8WUP2 40670 373 5.71 1 Focal adhesion;Cell cortex;Focal adhesion;Cytoskeleton;Cell junction;Nucleolus NA 0 PE1 -NX_Q8WUQ7 88702 758 9.17 19 Nucleus;Cytosol;Nucleus speckle;Nucleoplasm NA 0 PE1 -NX_Q8WUR7 16353 153 9.85 15 Cytosol;Nucleus NA 0 PE1 -NX_Q8WUS8 44284 393 8.43 16 Membrane NA 2 PE2 -NX_Q8WUT4 78843 740 6.82 20 Cytosol;Nucleus;Nucleolus;Membrane NA 1 PE1 -NX_Q8WUT9 37718 341 9.91 X Mitochondrion inner membrane;Nucleus NA 6 PE1 -NX_Q8WUU4 50810 475 9.13 19 Nucleoplasm;Centrosome;Nucleus NA 0 PE1 -NX_Q8WUU5 28690 269 9.47 7 Nucleus;Nucleus Cardiomyopathy, dilated 2B 0 PE1 -NX_Q8WUU8 26287 243 4.2 5 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q8WUW1 8745 75 5.35 3 Cytoskeleton;Cell junction;Nucleus speckle NA 0 PE1 -NX_Q8WUX1 51457 472 8.53 X Cell membrane;Cell membrane;Cytosol;Cytoplasmic vesicle NA 11 PE1 -NX_Q8WUX2 20875 184 5.31 2 Cytosol;Cytosol NA 0 PE1 -NX_Q8WUX9 50911 453 5.26 8 Cytosol;Cytoplasm;Nucleus envelope;Nucleus NA 0 PE1 -NX_Q8WUY1 23865 208 9.71 8 Cytosol;Nucleus speckle;Secreted NA 0 PE1 -NX_Q8WUY3 340635 3088 4.34 9 Cytoplasm NA 0 PE1 -NX_Q8WUY8 21650 206 10.75 19 Mitochondrion;Membrane NA 1 PE1 -NX_Q8WUY9 61771 529 9.04 5 Cytosol;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q8WUZ0 23468 217 5.15 16 Nucleoplasm NA 0 PE1 -NX_Q8WV07 15354 137 5.5 11 Nucleoplasm NA 0 PE1 -NX_Q8WV15 34609 326 6.28 13 Nucleoplasm;Membrane NA 4 PE2 -NX_Q8WV16 55694 495 9.38 14 Nucleoplasm NA 0 PE1 -NX_Q8WV19 17804 159 8.98 6 Nucleus;Nucleoplasm;Cytosol;Membrane NA 4 PE1 -NX_Q8WV22 30855 266 7.13 16 Cytoplasmic vesicle;Telomere;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8WV24 45016 401 9.94 12 Nucleolus;Nucleolus;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q8WV28 50466 456 8.18 10 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol Agammaglobulinemia 4, autosomal recessive 0 PE1 -NX_Q8WV35 23797 223 8.08 16 Nucleoplasm NA 0 PE1 -NX_Q8WV37 61708 535 9.26 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8WV41 65265 574 6.3 15 Cytosol;Membrane;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q8WV44 71670 630 4.99 5 Nucleus;Nucleus;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q8WV48 30509 283 5.04 9 Membrane;Cell membrane;Nucleoplasm NA 1 PE2 -NX_Q8WV60 43968 388 9.33 5 Mitochondrion NA 0 PE1 -NX_Q8WV74 25370 236 8.74 11 Nucleolus;Cytosol NA 0 PE1 -NX_Q8WV83 58887 523 9.39 2 Membrane;Cell membrane NA 10 PE1 -NX_Q8WV92 29314 249 8.12 2 Cytoplasmic vesicle;Midbody;Late endosome membrane;Membrane NA 0 PE1 -NX_Q8WV93 54845 481 6.87 6 Mitochondrion membrane;Cell membrane;Cytosol NA 0 PE1 -NX_Q8WV99 28023 257 6.5 2 Cytosol;Endoplasmic reticulum;Nucleus;Nucleolus NA 0 PE1 -NX_Q8WVB3 53790 486 5.61 17 Mitochondrion;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8WVB6 107383 975 6.78 16 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8WVC0 75404 666 4.38 15 Nucleoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_Q8WVC6 26550 231 9.61 17 Nucleus NA 0 PE1 -NX_Q8WVD3 28193 245 6.5 18 Chromosome;Mitochondrion NA 0 PE1 -NX_Q8WVD5 25535 230 5.07 11 Nucleoplasm;Cytoskeleton;Membrane NA 0 PE1 -NX_Q8WVE0 24506 214 4.47 13 Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q8WVE6 34760 324 4.73 5 Membrane NA 4 PE1 -NX_Q8WVE7 15250 144 9.3 16 Endoplasmic reticulum membrane;Nucleus envelope NA 3 PE1 -NX_Q8WVF1 44586 389 5.64 1 Nucleolus;Basal cell membrane;Nucleus;Cell membrane NA 0 PE1 -NX_Q8WVF2 16563 138 5.47 10 Extracellular matrix NA 0 PE1 -NX_Q8WVF5 29967 259 6.62 13 Microtubule organizing center NA 0 PE1 -NX_Q8WVH0 17557 158 4.89 15 Membrane;Synapse NA 0 PE1 -NX_Q8WVI0 8696 70 10.87 3 Nucleoplasm;Cell membrane;Membrane;Mitochondrion NA 1 PE1 -NX_Q8WVI7 12346 109 6.31 2 Cytoplasm;Nucleolus;Golgi apparatus;Nucleus NA 0 PE1 -NX_Q8WVJ2 17676 157 4.99 5 Spindle pole;Centrosome;Kinetochore;Nucleus;Cytoplasm;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q8WVJ9 18124 160 9.51 2 Nucleus;Nucleolus;Nucleus;Cytoplasm Barber-Say syndrome;Ablepharon-macrostomia syndrome;Focal facial dermal dysplasia 3, Setleis type 0 PE1 -NX_Q8WVK2 18860 155 11.62 2 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8WVK7 14188 121 6.75 17 Kinetochore;Spindle NA 0 PE1 -NX_Q8WVL7 27290 239 5 11 Nucleus;Nucleus;Nucleolus;Golgi apparatus NA 0 PE1 -NX_Q8WVM0 39543 346 9.35 6 Mitochondrion NA 0 PE1 -NX_Q8WVM7 144427 1258 5.4 3 Chromosome;Centromere;Nucleus;Nucleus;Nucleus Mental retardation, autosomal dominant 47 0 PE1 -NX_Q8WVM8 72380 642 5.89 14 Cytosol;Nucleoplasm;Cytoplasm;Endoplasmic reticulum membrane;Golgi stack membrane NA 0 PE1 -NX_Q8WVN6 27039 248 7 17 Cell membrane;Secreted NA 1 PE1 -NX_Q8WVN8 42818 375 4.87 15 Cytoplasm;Cytoplasm NA 0 PE1 -NX_Q8WVP5 20827 186 9.57 19 Cytoplasm NA 0 PE1 -NX_Q8WVP7 55098 490 5.68 7 Membrane;Cytosol Laurin-Sandrow syndrome;Acheiropody;Hypoplasia or aplasia of tibia with polydactyly;Syndactyly 4;Preaxial polydactyly 2 9 PE1 -NX_Q8WVQ1 44840 401 5.72 17 Endoplasmic reticulum membrane;Golgi stack membrane;Cell membrane Desbuquois dysplasia 1 1 PE1 -NX_Q8WVR3 62597 580 9.13 7 Cytoplasm;Cell membrane;Cytoplasmic vesicle;Microtubule organizing center NA 0 PE1 -NX_Q8WVS4 122571 1066 6.88 7 Microtubule organizing center;Cilium Short-rib thoracic dysplasia 8 with or without polydactyly 0 PE1 -NX_Q8WVT3 79375 735 4.81 2 Nucleus;Endoplasmic reticulum-Golgi intermediate compartment NA 0 PE1 -NX_Q8WVV4 68065 589 5.89 X Golgi apparatus;Nucleoplasm;Tight junction Premature ovarian failure 2B 0 PE1 -NX_Q8WVV5 59070 523 5.73 6 Mitochondrion;Membrane NA 1 PE1 -NX_Q8WVV9 60083 542 7.83 2 Cytosol;Mitochondrion;Nucleus NA 0 PE1 -NX_Q8WVX3 7604 66 5.07 4 Cytosol;Membrane NA 1 PE1 -NX_Q8WVX9 59357 515 9.25 11 Peroxisome membrane;Peroxisome Peroxisomal fatty acyl-CoA reductase 1 disorder 1 PE1 -NX_Q8WVY7 36805 318 6.07 5 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q8WVZ1 34352 309 8.54 3 Membrane NA 4 PE1 -NX_Q8WVZ7 42294 376 7.22 7 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8WVZ9 77163 684 5.35 13 NA NA 0 PE1 -NX_Q8WW01 18641 171 4.46 1 Nucleolus;Nucleus;Nucleus;Nucleolus Pontocerebellar hypoplasia 2F 0 PE1 -NX_Q8WW12 18925 178 6.86 3 Nucleus;Nucleus NA 0 PE1 -NX_Q8WW14 25923 230 8.78 10 Mitochondrion NA 0 PE1 -NX_Q8WW18 19346 174 5.26 17 Nucleoplasm NA 0 PE1 -NX_Q8WW22 44798 397 7.52 15 Cell membrane;Cytosol;Membrane NA 0 PE1 -NX_Q8WW24 50649 435 6.01 2 Cilium axoneme;Flagellum;Flagellum axoneme;Cytoskeleton NA 0 PE1 -NX_Q8WW27 41581 367 8.08 1 NA NA 0 PE2 -NX_Q8WW32 22490 186 10.21 1 Nucleus;Chromosome NA 0 PE1 -NX_Q8WW33 19266 167 6.04 12 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q8WW34 21842 195 8.5 20 Membrane NA 2 PE1 -NX_Q8WW35 16122 142 4.82 3 Cytosol Short-rib thoracic dysplasia 17 with or without polydactyly 0 PE1 -NX_Q8WW36 18005 166 9.33 X NA NA 0 PE1 -NX_Q8WW38 128159 1151 6.03 8 Nucleoplasm;Nucleus 46,XY sex reversal 9;Conotruncal heart malformations;Diaphragmatic hernia 3;Tetralogy of Fallot 0 PE1 -NX_Q8WW43 28460 257 9.21 15 Endoplasmic reticulum;Membrane NA 7 PE1 -NX_Q8WW52 64028 585 6.19 1 Membrane;Nucleoplasm NA 1 PE1 -NX_Q8WW59 23129 207 6.44 12 Nucleoplasm NA 0 PE1 -NX_Q8WW62 27631 240 8.38 16 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8WWA0 34962 313 5.66 1 Cell membrane;Secreted NA 0 PE1 -NX_Q8WWA1 25495 233 5.36 3 Membrane;Cytosol NA 2 PE1 -NX_Q8WWB3 20893 177 4.64 10 NA NA 0 PE1 -NX_Q8WWB5 35957 315 5.96 11 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8WWB7 43864 406 6.1 1 Lysosome membrane NA 1 PE1 -NX_Q8WWC4 32545 291 9.31 2 Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_Q8WWF1 14923 131 4 1 Secreted;Cytoplasmic vesicle NA 0 PE2 -NX_Q8WWF3 28167 244 7.64 7 Membrane NA 1 PE1 -NX_Q8WWF5 46958 429 8.34 19 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q8WWF6 16559 145 4.85 2 NA NA 0 PE1 -NX_Q8WWF8 24229 208 5.76 5 Nucleus;Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q8WWG1 12722 115 6.12 15 Cell membrane;Secreted NA 1 PE1 -NX_Q8WWG9 23806 221 4.68 2 Cytoskeleton;Membrane;Nucleus NA 1 PE1 -NX_Q8WWH4 53458 475 5.6 7 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q8WWH5 37253 349 8.44 10 Cytoskeleton;Cytoplasmic vesicle NA 0 PE1 -NX_Q8WWI1 192696 1683 8.34 13 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q8WWI5 73302 657 8.93 9 Mitochondrion;Nucleoplasm;Cell membrane;Mitochondrion outer membrane NA 9 PE1 -NX_Q8WWK9 76987 683 9.45 13 Cytoskeleton;Spindle;Spindle pole;Cytoskeleton;Cytosol NA 0 PE1 -NX_Q8WWL2 79671 714 7.75 16 Cytoplasmic vesicle;Nucleus;Cytoplasmic vesicle membrane;Cytosol;Perinuclear region;Cell membrane;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q8WWL7 157916 1395 6.28 X Nucleus;Nucleus speckle NA 0 PE1 -NX_Q8WWM1 12077 108 4.81 X Cytoplasmic vesicle;Nucleoplasm NA 0 PE3 -NX_Q8WWM7 113374 1075 8.7 16 Cytosol;Cytoplasmic granule;Nucleus speckle;Cytoplasm;Membrane NA 0 PE1 -NX_Q8WWM9 21405 190 6.32 17 Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q8WWN8 169844 1544 6.69 5 Cytoplasm;Cytoskeleton;Cell membrane;Lamellipodium;Ruffle NA 0 PE1 -NX_Q8WWN9 48993 437 7.17 6 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8WWP7 34369 306 9.11 7 Endoplasmic reticulum;Endoplasmic reticulum membrane;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q8WWQ0 206689 1821 9.02 6 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8WWQ2 66596 592 9.95 10 Extracellular matrix Urofacial syndrome 1 0 PE1 -NX_Q8WWQ8 276988 2551 6 12 Cell membrane;Cytoplasm;Cytosol NA 1 PE1 -NX_Q8WWR8 51572 484 7.97 2 Lysosome lumen;Membrane NA 0 PE1 -NX_Q8WWR9 9188 84 6.53 8 NA NA 0 PE2 -NX_Q8WWT9 66841 602 8.58 20 Cell membrane NA 11 PE1 -NX_Q8WWU5 56141 503 5.08 6 Membrane;Flagellum;Acrosome NA 1 PE1 -NX_Q8WWU7 36212 325 8.61 1 Secreted NA 0 PE1 -NX_Q8WWV3 43590 396 9.22 6 Mitochondrion outer membrane Optic atrophy 10 with or without ataxia, mental retardation, and seizures 0 PE1 -NX_Q8WWV6 57144 532 9.37 1 Cell membrane NA 1 PE1 -NX_Q8WWW0 47090 418 9.31 1 Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q8WWW8 65589 586 6.8 X NA NA 0 PE1 -NX_Q8WWX0 36341 329 6.34 4 Cell membrane NA 0 PE2 -NX_Q8WWX8 74036 675 6.33 16 Cytosol;Nucleus;Membrane NA 14 PE1 -NX_Q8WWX9 16232 145 5.39 22 Cytoplasm;Nucleus;Cytosol;Nucleoplasm;Golgi apparatus;Endoplasmic reticulum;Perinuclear region NA 0 PE1 -NX_Q8WWY3 55456 499 5.63 19 Nucleus;Nucleus speckle;Cajal body;Nucleus Retinitis pigmentosa 11 0 PE1 -NX_Q8WWY6 21616 194 8.52 19 Nucleus NA 0 PE1 -NX_Q8WWY7 12050 111 5.35 20 Secreted NA 0 PE1 -NX_Q8WWY8 50859 451 7.15 3 Membrane;Secreted Woolly hair autosomal recessive 2;Hypotrichosis 7 0 PE1 -NX_Q8WWZ1 16943 152 4.94 2 Secreted NA 0 PE1 -NX_Q8WWZ3 24802 215 5.23 1 Cytosol;Nucleus;Cytoplasm Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant 0 PE1 -NX_Q8WWZ4 175790 1543 6.22 17 Membrane NA 15 PE2 -NX_Q8WWZ7 186508 1642 6.51 17 Golgi apparatus membrane;Late endosome membrane;Lysosome membrane NA 15 PE1 -NX_Q8WWZ8 60022 545 5.34 10 Nucleus envelope NA 0 PE1 -NX_Q8WX39 20285 176 5.72 9 Secreted NA 0 PE2 -NX_Q8WX77 29005 278 8.29 9 Cytoplasmic vesicle;Nucleoplasm;Secreted NA 0 PE1 -NX_Q8WX92 65697 580 5.77 9 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8WX93 150564 1383 6.67 4 Cytosol;Z line;Cell membrane;Cytoskeleton;Cytoskeleton;Focal adhesion;Ruffle;Podosome;Lamellipodium;Axon;Growth cone Pancreatic cancer 1 0 PE1 -NX_Q8WX94 111807 980 5.87 19 Golgi apparatus Hydatidiform mole, recurrent, 1 0 PE1 -NX_Q8WXA2 14271 126 8.28 11 Secreted NA 0 PE1 -NX_Q8WXA3 75055 655 6.11 10 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8WXA8 50220 447 5.59 3 Cell membrane NA 4 PE1 -NX_Q8WXA9 59380 508 10.39 5 Nucleus speckle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q8WXB1 24600 218 5.84 2 Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8WXB4 91812 792 8.16 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8WXC3 10107 89 6.3 16 Cytoplasm NA 0 PE1 -NX_Q8WXC6 6211 57 3.6 2 Nucleus;Cytosol;Nucleoplasm;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q8WXD0 86453 754 9.04 13 Cell membrane Cryptorchidism 7 PE1 -NX_Q8WXD2 53005 468 4.94 15 Cytoplasmic vesicle;Secreted;Secretory vesicle membrane;Secretory vesicle lumen NA 0 PE1 -NX_Q8WXD5 18824 167 5.02 2 Nucleoplasm;Gem;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8WXD9 149814 1431 9.21 16 Cytoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q8WXE0 126783 1202 6.63 17 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q8WXE1 85838 791 5.9 3 Nucleus;Nucleus NA 0 PE1 -NX_Q8WXE9 101165 905 5.2 14 Nucleolus;Cytoplasm;Membrane;Synaptosome;Cytosol NA 0 PE1 -NX_Q8WXF0 30512 261 11.69 6 Nucleus NA 0 PE1 -NX_Q8WXF1 58744 523 6.26 13 Nucleus;Nucleolus;Nucleus speckle;Nucleoplasm;Nucleolus;Nucleus matrix;Cytoplasm NA 0 PE1 -NX_Q8WXF3 15451 142 5.41 19 Secreted NA 0 PE1 -NX_Q8WXF5 20624 182 5.4 7 NA NA 0 PE2 -NX_Q8WXF7 63544 558 5.82 14 Endoplasmic reticulum membrane;Golgi apparatus membrane;Axon Neuropathy, hereditary sensory, 1D;Spastic paraplegia 3, autosomal dominant 2 PE1 -NX_Q8WXF8 36179 326 9.23 19 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q8WXG1 42170 361 8.53 2 Endoplasmic reticulum;Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleolus;Golgi apparatus;Lipid droplet;Mitochondrion;Mitochondrion inner membrane;Mitochondrion outer membrane NA 0 PE1 -NX_Q8WXG6 183303 1647 5.72 11 Cytosol;Membrane;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q8WXG8 11620 99 7.73 5 NA NA 0 PE1 -NX_Q8WXG9 693069 6306 4.53 5 Cell membrane Febrile seizures, familial, 4;Usher syndrome 2C 7 PE1 -NX_Q8WXH0 796442 6885 5.26 14 Nucleus membrane;Mitochondrion;Nucleoplasm;Z line;Focal adhesion;Cytoskeleton;Nucleus outer membrane;Sarcoplasmic reticulum membrane;Cell membrane Emery-Dreifuss muscular dystrophy 5, autosomal dominant 1 PE1 -NX_Q8WXH2 81469 748 9.43 16 Nucleoplasm;Cytosol;Cell membrane;Endoplasmic reticulum membrane Huntington disease-like 2 1 PE1 -NX_Q8WXH4 35367 323 8.39 X NA NA 0 PE1 -NX_Q8WXH5 50623 440 6.63 14 Nucleus;Cytosol NA 0 PE1 -NX_Q8WXH6 31076 277 9.45 X Cell membrane NA 0 PE2 -NX_Q8WXI2 117535 1034 6.34 X Cytoplasm;Membrane;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q8WXI3 50894 467 6.55 7 Nucleus;Cytoplasm Glaucoma 1, open angle, F 0 PE1 -NX_Q8WXI4 68492 607 8.66 1 Cytosol;Cytoplasm NA 0 PE1 -NX_Q8WXI7 1519175 14507 5.13 19 Extracellular space;Cell membrane NA 1 PE1 -NX_Q8WXI8 24704 215 8.28 12 Membrane NA 1 PE1 -NX_Q8WXI9 65261 593 9.73 1 Nucleoplasm;Nucleus speckle Mental retardation, autosomal dominant 18 0 PE1 -NX_Q8WXJ9 34282 295 9.05 1 NA NA 0 PE1 -NX_Q8WXK1 65799 588 5.51 7 NA NA 0 PE1 -NX_Q8WXK3 30007 278 6.36 10 Golgi apparatus;Nucleus NA 0 PE1 -NX_Q8WXK4 33943 309 5.53 X NA NA 0 PE1 -NX_Q8WXQ3 35482 324 5.84 14 NA NA 0 PE2 -NX_Q8WXQ8 49036 436 6.24 7 Nucleus;Secreted NA 0 PE1 -NX_Q8WXR4 151829 1341 8.4 2 Cytoskeleton;Stereocilium NA 0 PE1 -NX_Q8WXS3 19224 180 5.47 8 Postsynaptic density;Membrane raft;Synaptosome;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q8WXS4 20932 190 7.65 2 Nucleolus;Cytosol;Membrane;Nucleus NA 4 PE2 -NX_Q8WXS5 43313 425 9.34 19 Membrane;Postsynaptic density NA 5 PE1 -NX_Q8WXS8 133888 1223 6.81 10 Extracellular matrix;Cytosol NA 0 PE1 -NX_Q8WXT5 45892 416 9.74 9 Nucleus NA 0 PE2 -NX_Q8WXU2 48527 420 8.88 15 Cytosol;Cell membrane;Cytoplasm;Nucleus Dyslexia 1;Ciliary dyskinesia, primary, 25 0 PE1 -NX_Q8WXW3 89805 757 5.78 13 Cytoplasm;Microtubule organizing center;Centrosome;Secreted;Nucleus;Nucleoplasm;Centriolar satellite NA 0 PE1 -NX_Q8WXX0 461159 4024 5.7 2 Cytosol;Cilium axoneme NA 0 PE1 -NX_Q8WXX5 29910 260 5.58 10 Nucleus;Nucleoplasm;Nucleus;Cell membrane;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q8WXX7 138982 1259 9.41 7 Cytosol;Nucleus;Cytoskeleton;Growth cone;Nucleoplasm Mental retardation, autosomal dominant 26 0 PE1 -NX_Q8WY07 67169 619 5.82 X Cell membrane NA 14 PE1 -NX_Q8WY21 129635 1168 7.38 10 Membrane;Cytosol;Cell membrane NA 1 PE1 -NX_Q8WY22 27836 251 9.48 12 Mitochondrion;Nucleoplasm;Mitochondrion outer membrane NA 4 PE1 -NX_Q8WY36 105130 941 8.96 3 Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8WY41 30230 292 8.29 10 Cytosol;Cytoplasm;Perinuclear region;Nucleoplasm Spermatogenic failure 12 0 PE1 -NX_Q8WY50 16680 150 7.02 21 NA NA 0 PE2 -NX_Q8WY54 85002 764 4.96 17 Nucleus;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q8WY64 49910 445 6.9 6 Cell membrane;Cytoplasm NA 0 PE1 -NX_Q8WY91 62890 577 9.39 2 Nucleus speckle;Nucleoplasm NA 0 PE1 -NX_Q8WY98 17601 164 8.76 1 Membrane;Cytoplasmic vesicle NA 3 PE1 -NX_Q8WYA0 79746 676 8.9 12 Centrosome;Cytosol;Cilium NA 0 PE1 -NX_Q8WYA1 70887 636 7.01 12 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q8WYA6 65173 563 4.96 20 Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q8WYB5 231378 2073 5.68 10 Nucleus;Nucleus;Nucleus Genitopatellar syndrome;Ohdo syndrome, SBBYS variant 0 PE1 -NX_Q8WYH8 27751 240 7.53 2 Nucleus NA 0 PE1 -NX_Q8WYJ6 41971 367 5.56 16 Cytoskeleton;Cytoplasm;Cytoskeleton;Centrosome;Midbody NA 0 PE1 -NX_Q8WYK0 62034 555 6.3 5 Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q8WYK1 145623 1306 5.86 2 Membrane;Cytoplasmic vesicle;Nucleolus;Nucleus NA 1 PE1 -NX_Q8WYK2 18704 163 9.3 14 Nucleus;Nucleus speckle;Nucleoplasm NA 0 PE1 -NX_Q8WYL5 115511 1049 5.87 12 Cytosol;Lamellipodium;Cytoskeleton;Midbody;Cleavage furrow;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q8WYN0 45378 398 4.93 X Cytoskeleton;Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q8WYN3 64900 585 4.68 2 Nucleus;Nucleus;Nucleolus NA 0 PE2 -NX_Q8WYP3 100163 895 6.15 20 Cytoplasm;Cytosol;Nucleolus;Golgi apparatus;Cytoplasm MACS syndrome 0 PE1 -NX_Q8WYP5 252498 2266 6.19 1 Nucleus membrane;Cytoplasm;Nucleus;Nucleus envelope;Nucleus matrix;Kinetochore;Nucleoplasm;Nuclear pore complex NA 0 PE1 -NX_Q8WYQ3 14149 142 7.73 22 Mitochondrion;Cytoplasm;Mitochondrion;Mitochondrion intermembrane space Spinal muscular atrophy, Jokela type;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2;Myopathy, isolated mitochondrial, autosomal dominant 0 PE1 -NX_Q8WYQ4 16487 148 9.03 22 NA NA 0 PE2 -NX_Q8WYQ5 86045 773 5.68 22 Nucleus;Nucleolus NA 0 PE1 -NX_Q8WYQ9 100042 949 8.47 16 Nucleus membrane NA 0 PE1 -NX_Q8WYR1 97348 880 6.3 17 Microtubule organizing center;Cytosol;Nucleus;Cytoplasm;Cell membrane Ataxia-oculomotor apraxia 3 0 PE1 -NX_Q8WYR4 35124 309 4.58 21 Cytoplasm;Cilium;Nucleoplasm Ciliary dyskinesia, primary, 24 0 PE1 -NX_Q8WZ04 32155 291 9.3 11 Membrane;Endoplasmic reticulum;Cytoplasm Deafness, autosomal recessive, 63 1 PE1 -NX_Q8WZ19 36357 329 6.77 16 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_Q8WZ26 14832 134 8.26 19 NA NA 0 PE2 -NX_Q8WZ33 13947 124 7.7 4 Nucleolus;Cytoplasm NA 0 PE1 -NX_Q8WZ55 35197 320 4.24 1 Cytoplasm;Cell membrane Bartter syndrome 4A, neonatal, with sensorineural deafness 2 PE1 -NX_Q8WZ59 19457 177 5.15 19 Membrane NA 1 PE1 -NX_Q8WZ60 70359 621 5.89 3 NA NA 0 PE1 -NX_Q8WZ64 193452 1704 7.11 4 Cytosol;Cytoplasm;Cytoskeleton;Focal adhesion;Nucleoplasm NA 0 PE1 -NX_Q8WZ69 24620 217 7.61 11 NA NA 0 PE2 -NX_Q8WZ71 30404 300 8.74 3 Membrane NA 2 PE1 -NX_Q8WZ73 40514 363 5.33 17 Cytosol;Cytoplasmic vesicle;Cell membrane;Recycling endosome membrane NA 0 PE1 -NX_Q8WZ74 181051 1663 8.23 7 Dendritic spine;Midbody ring;Cytosol;Cell cortex NA 0 PE1 -NX_Q8WZ75 107457 1007 6.18 11 Cell membrane NA 0 PE1 -NX_Q8WZ79 41713 361 9.4 1 Lysosome NA 0 PE2 -NX_Q8WZ82 24418 227 6.44 17 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8WZ84 34445 308 8.7 11 Cell membrane NA 7 PE2 -NX_Q8WZ92 35786 322 8.01 11 Cell membrane NA 7 PE2 -NX_Q8WZ94 34296 311 8.67 11 Cell membrane NA 7 PE2 -NX_Q8WZA0 21495 190 4.88 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q8WZA1 75252 660 6.37 1 Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3;Retinitis pigmentosa 76;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3;Muscular dystrophy-dystroglycanopathy limb-girdle C3 1 PE1 -NX_Q8WZA2 115522 1011 6.37 2 Focal adhesion;Membrane;Cytoplasm NA 0 PE1 -NX_Q8WZA6 38518 343 8.85 17 Cell membrane NA 7 PE3 -NX_Q8WZA8 3819 35 7.96 11 NA NA 0 PE5 -NX_Q8WZA9 62717 623 4.81 19 Cytoplasmic vesicle NA 0 PE1 -NX_Q8WZB0 14715 136 11.93 9 NA NA 0 PE5 -NX_Q902F8 79168 699 9.26 8 Cell membrane;Cell membrane;Virion NA 1 PE1 -NX_Q902F9 79195 699 9.06 19 Cell membrane;Cell membrane;Virion NA 1 PE1 -NX_Q92185 40519 356 9.41 12 Golgi apparatus membrane NA 1 PE1 -NX_Q92186 42430 375 9.48 15 Microtubule organizing center;Golgi apparatus membrane NA 1 PE2 -NX_Q92187 41295 359 9.77 5 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q92466 47864 427 9.56 11 Nucleus;Nucleoplasm;Cell junction Xeroderma pigmentosum complementation group E 0 PE1 -NX_Q92478 17307 149 9.02 12 Membrane NA 1 PE1 -NX_Q92481 50474 460 8.41 6 Nucleoplasm;Nucleus Char syndrome;Patent ductus arteriosus 2 0 PE1 -NX_Q92482 31544 292 6.74 9 Cell membrane;Nucleus;Basolateral cell membrane NA 6 PE1 -NX_Q92484 51260 453 5.88 6 Nucleus;Mitochondrion;Secreted;Nucleolus NA 0 PE1 -NX_Q92485 50814 455 5.36 1 Cytosol;Secreted;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q92496 65351 578 4.85 1 Secreted NA 0 PE1 -NX_Q92499 82432 740 6.8 2 Cytoplasmic granule;Cytoplasm;Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q92502 112601 1023 5.87 X Focal adhesion NA 0 PE1 -NX_Q92503 81250 715 6.01 17 Nucleus;Cytosol;Cytoplasm;Golgi apparatus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q92504 50118 469 6.36 6 cis-Golgi network membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum NA 6 PE1 -NX_Q92506 26974 261 6.09 6 Mitochondrion matrix NA 0 PE1 -NX_Q92508 286790 2521 7.37 16 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cell membrane;Lamellipodium membrane Lymphedema, hereditary, 3;Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 36 PE1 -NX_Q92519 38801 343 5.77 2 Cytoplasm;Cytosol;Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q92520 24680 227 8.52 7 Golgi apparatus;Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_Q92521 65056 554 9.39 15 Cell membrane;Cytosol;Endoplasmic reticulum membrane NA 9 PE1 -NX_Q92522 22487 213 10.76 3 Nucleus;Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_Q92523 87801 772 8.86 22 Mitochondrion outer membrane NA 2 PE1 -NX_Q92526 57821 530 6.85 17 Cytoplasm NA 0 PE1 -NX_Q92527 29029 254 9.09 7 Nucleus NA 0 PE1 -NX_Q92529 64056 594 8.57 9 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q92530 29817 271 5.42 20 Cytoplasm;Cytosol;Endoplasmic reticulum;Cytoplasm NA 0 PE1 -NX_Q92535 33583 297 8.66 1 Endoplasmic reticulum membrane NA 8 PE1 -NX_Q92536 56828 515 5.63 16 Cell membrane;Cytoplasmic vesicle;Basolateral cell membrane NA 12 PE1 -NX_Q92537 32090 303 5.01 14 Nucleoplasm;Cytoskeleton;Membrane NA 1 PE1 -NX_Q92538 206446 1859 5.48 10 Endoplasmic reticulum-Golgi intermediate compartment;trans-Golgi network;cis-Golgi network;Lipid droplet;Cytoplasm;Membrane;Golgi apparatus NA 0 PE1 -NX_Q92539 99399 896 5.18 18 Nucleus;Cytosol;Nucleus;Cytosol;Endoplasmic reticulum membrane;Cell membrane;Cytoskeleton Majeed syndrome 0 PE1 -NX_Q92540 127282 1137 8.87 1 Cytoskeleton;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q92541 80313 710 8.21 15 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q92542 78411 709 5.67 1 Cytosol;Melanosome;Membrane;Cytoplasmic vesicle membrane Acne inversa, familial, 1 1 PE1 -NX_Q92543 108598 992 4.97 11 Mitochondrion;Early endosome membrane;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q92544 74519 642 6.11 20 Membrane;Mitochondrion;Golgi apparatus;Early endosome NA 9 PE1 -NX_Q92545 205138 1883 8.74 2 Membrane;Cytoplasmic vesicle;Cytoskeleton NA 2 PE1 -NX_Q92546 42455 391 5.65 9 Cell membrane;Cytosol;Membrane;Cytosol NA 0 PE1 -NX_Q92547 170679 1522 6.52 3 Nucleus;Chromosome;Spindle pole;Centrosome;Nucleus NA 0 PE1 -NX_Q92551 50236 441 6.81 3 Cytoplasm;Nucleolus;Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_Q92552 47611 414 5.83 5 Cytoplasm;Mitochondrion NA 0 PE1 -NX_Q92556 83829 727 5.89 7 Cytoplasm;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q92558 61652 559 6.01 6 Cytoskeleton;Synapse;Focal adhesion NA 0 PE1 -NX_Q92560 80362 729 6.38 3 Cytoplasm;Cytosol;Nucleus;Nucleoplasm Tumor predisposition syndrome;Mesothelioma, malignant 0 PE1 -NX_Q92561 37573 330 6.53 8 Mitochondrion NA 0 PE1 -NX_Q92562 103635 907 6.46 6 Endosome membrane;Cytoplasmic vesicle;Lipid droplet Polymicrogyria, bilateral temporooccipital;Charcot-Marie-Tooth disease 4J;Amyotrophic lateral sclerosis 11;Yunis-Varon syndrome 0 PE1 -NX_Q92563 46779 424 4.71 10 Nucleus speckle;Extracellular matrix NA 0 PE1 -NX_Q92564 34068 292 5.58 4 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q92565 67733 580 5.89 7 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q92567 26184 244 9.01 11 Nucleoplasm NA 0 PE1 -NX_Q92569 54448 461 5.68 1 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q92570 68230 626 8 9 Nucleus Ewing sarcoma 0 PE1 -NX_Q92572 21732 193 5.23 5 Golgi apparatus;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q92574 129767 1164 6.02 9 Cytosol;Cytoplasm;Membrane Focal cortical dysplasia 2;Lymphangioleiomyomatosis;Tuberous sclerosis 1 0 PE1 -NX_Q92575 56778 508 6.1 2 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus envelope NA 0 PE1 -NX_Q92576 229481 2039 6.52 6 Nucleoplasm NA 0 PE1 -NX_Q92581 74162 669 6.03 X Cytoplasmic vesicle;Endosome membrane Mental retardation, X-linked, syndromic, Christianson type 13 PE1 -NX_Q92583 10507 94 9.59 16 Secreted NA 0 PE1 -NX_Q92585 108054 1016 8.45 5 Nucleus speckle;Nucleoplasm NA 0 PE1 -NX_Q92597 42835 394 5.49 8 Cytosol;Cytoskeleton;Cytosol;Centrosome;Nucleus;Cell membrane Charcot-Marie-Tooth disease 4D 0 PE1 -NX_Q92598 96865 858 5.28 13 Cytoplasm;Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q92599 55756 483 5.89 5 Cytoskeleton;Cytoplasm;Cytoskeleton;Cytosol NA 0 PE1 -NX_Q92600 33631 299 8.18 2 Nucleus;P-body NA 0 PE1 -NX_Q92604 43089 370 9.02 1 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q92608 211948 1830 6.43 5 Cytoskeleton;Endomembrane system Immunodeficiency 40 0 PE1 -NX_Q92609 89004 795 6.1 3 Autophagosome;Endosome membrane;Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q92610 137528 1267 8.1 15 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q92611 73768 657 6.45 3 Endoplasmic reticulum;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q92613 93808 823 6.79 X Nucleolus;Nucleus NA 0 PE1 -NX_Q92614 233115 2054 5.95 17 trans-Golgi network;Cell surface;Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment;Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q92615 80552 738 6.48 10 Cytosol;Cytosol NA 0 PE1 -NX_Q92616 292758 2671 7.29 12 Cytosol;Cytoplasm NA 0 PE1 -NX_Q92617 116847 1050 10.04 16 Membrane NA 1 PE2 -NX_Q92618 124289 1163 9.02 18 Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q92619 124614 1136 5.76 19 Cytoplasm;Ruffle membrane NA 0 PE1 -NX_Q92620 140503 1227 6.11 16 Nucleus;Nucleus NA 0 PE1 -NX_Q92621 227922 2012 5.81 7 Nucleus membrane;Nuclear pore complex Nephrotic syndrome 13 0 PE1 -NX_Q92622 108622 972 5.86 3 Cytoplasmic vesicle;Early endosome;Late endosome;Lysosome;Cytosol Spinocerebellar ataxia, autosomal recessive, 15 0 PE1 -NX_Q92623 24379 222 9.13 14 NA NA 0 PE1 -NX_Q92624 66853 585 6.44 17 Cytosol;Nucleus;Cytoskeleton;Membrane NA 0 PE1 -NX_Q92625 123108 1134 5.93 6 Cytosol;Nucleoplasm;Cell projection;Cytoplasm NA 0 PE1 -NX_Q92626 165275 1479 6.79 2 Extracellular matrix Anterior segment dysgenesis 7 0 PE1 -NX_Q92628 154789 1395 4.71 4 Cytosol NA 0 PE1 -NX_Q92629 32071 289 9.24 5 Cytoskeleton;Sarcolemma Cardiomyopathy, dilated 1L;Limb-girdle muscular dystrophy 2F 1 PE1 -NX_Q92630 66652 601 9.7 12 Cytosol;Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q92633 41109 364 8.87 9 Cell membrane;Nucleus speckle;Cell surface;Endosome;Cell membrane NA 7 PE1 -NX_Q92636 104372 917 5.8 8 Nucleolus NA 0 PE1 -NX_Q92637 32232 280 8.87 1 Cell membrane NA 1 PE2 -NX_Q92643 45252 395 5.76 1 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q92664 41515 365 9.34 13 Nucleus;Nucleus NA 0 PE1 -NX_Q92665 45318 395 9.32 13 Mitochondrion;Nucleolus;Mitochondrion NA 0 PE1 -NX_Q92667 97342 903 4.84 17 Mitochondrion outer membrane;Mitochondrion NA 0 PE1 -NX_Q92670 49753 426 9.07 11 Nucleus NA 0 PE5 -NX_Q92673 248426 2214 5.32 11 Cell junction;Membrane;Nucleoplasm;Golgi apparatus;Endosome;Secreted Alzheimer disease 1 PE1 -NX_Q92674 86720 756 8.98 X Nucleus;Centromere;Cytosol;Nucleus NA 0 PE1 -NX_Q92681 66790 617 4.78 1 Cell membrane;Nucleoplasm;Nucleus;trans-Golgi network;Cell junction NA 0 PE1 -NX_Q92685 50126 438 9.56 3 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1D 11 PE1 -NX_Q92686 7618 78 7.72 11 NA NA 0 PE1 -NX_Q92688 28788 251 3.94 9 Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q92692 57742 538 4.74 19 Nucleolus;Cell junction;Cell membrane NA 1 PE1 -NX_Q92696 65072 567 5.45 14 Nucleoplasm NA 0 PE1 -NX_Q92698 84352 747 8.85 1 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q92729 162423 1446 6.46 1 Cell junction;Cell membrane NA 1 PE1 -NX_Q92730 26056 232 8.24 12 Cytoskeleton;Cell membrane;Cytoplasmic vesicle;Cell membrane;Cytoskeleton NA 0 PE1 -NX_Q92731 59216 530 8.81 14 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q92733 52418 491 5.02 1 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q92734 43448 400 4.94 3 Cytosol;Cytoplasmic vesicle;Endoplasmic reticulum Neuropathy, hereditary motor and sensory, Okinawa type;Spastic paraplegia 57, autosomal recessive 0 PE1 -NX_Q92736 564567 4967 5.73 1 Cell membrane;Nucleoplasm;Cytosol;Sarcoplasmic reticulum membrane;Sarcoplasmic reticulum;Membrane Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy;Arrhythmogenic right ventricular dysplasia, familial, 2 6 PE1 -NX_Q92737 22541 203 9.79 22 Cell membrane;Nucleolus NA 0 PE1 -NX_Q92738 94104 828 9.1 10 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q92743 51287 480 8.09 10 Cell membrane;Cell membrane;Secreted;Cytosol Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2;Macular degeneration, age-related, 7;Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 0 PE1 -NX_Q92747 41569 370 8.46 7 Cytoskeleton;Cell membrane;Cell junction;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q92748 16561 146 4.79 11 Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q92750 91091 862 9.59 18 Cytoplasm;Nucleoplasm;Nucleolus;Nucleus Spermatogenic failure 13 0 PE1 -NX_Q92752 149562 1358 4.71 1 Extracellular matrix NA 0 PE1 -NX_Q92753 53220 470 7.78 9 Nucleus;Nucleus NA 0 PE1 -NX_Q92754 49177 450 7.72 20 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q92759 52186 462 9.12 6 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q92764 50361 455 4.85 17 NA NA 0 PE1 -NX_Q92765 36254 325 8.82 2 Secreted Osteoarthritis 1 0 PE1 -NX_Q92766 181420 1687 6.54 6 Nucleus speckle;Nucleolus;Nucleus speckle NA 0 PE1 -NX_Q92769 55364 488 5.59 6 Cytoplasm;Nucleus;Cytoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q92771 106006 950 8.57 12 Nucleus NA 0 PE5 -NX_Q92772 56019 493 8.45 4 Cytoplasm;Nucleus;Centrosome;Nucleus NA 0 PE1 -NX_Q92777 62847 582 8.58 3 Nucleoplasm;Synapse Schizophrenia 0 PE1 -NX_Q92781 34979 318 9.47 12 Cytosol;Cytoplasmic vesicle;Endoplasmic reticulum lumen;Membrane Fundus albipunctatus 0 PE1 -NX_Q92782 42502 380 6.47 19 Cytosol;Mitochondrion;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q92783 59180 540 4.7 10 Early endosome membrane;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q92784 43084 378 6.01 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q92785 44155 391 5.94 11 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q92786 83203 737 6.74 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q92791 50381 437 4.68 17 Endoplasmic reticulum NA 0 PE1 -NX_Q92793 265351 2442 8.83 16 Nucleoplasm;Nucleus;Nucleus;Cytoplasm Rubinstein-Taybi syndrome 1 0 PE1 -NX_Q92794 225028 2004 5.5 8 Nucleus;Nucleolus;PML body;Nucleus speckle;Nucleolus;Nucleoplasm;Cytosol Mental retardation, autosomal dominant 32 0 PE1 -NX_Q92796 90314 817 6.56 X Nucleus;Nucleolus Mental retardation, X-linked 90 0 PE1 -NX_Q92797 141148 1274 5.82 19 Tight junction;Cytosol;Cytoskeleton;Cell membrane;Cell junction;Nucleoplasm;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q92800 85271 747 8.01 17 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q92802 67459 583 5.96 13 Nucleoplasm NA 0 PE1 -NX_Q92804 61830 592 8.04 17 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q92805 88184 767 5.24 9 Golgi stack membrane;Golgi apparatus NA 0 PE1 -NX_Q92806 44020 393 4.86 1 Membrane NA 2 PE1 -NX_Q92813 30552 273 8.18 14 Cytosol;Nucleoplasm;Membrane NA 1 PE1 -NX_Q92817 231604 2033 6.56 17 Cytosol;Cytoskeleton;Desmosome;Cornified envelope;Cytoskeleton NA 0 PE1 -NX_Q92819 63566 552 8.85 8 Nucleus speckle;Membrane NA 7 PE1 -NX_Q92820 35964 318 6.66 8 Lysosome;Melanosome;Extracellular space NA 0 PE1 -NX_Q92823 143890 1304 5.45 7 Cell membrane;Secreted;Axon NA 1 PE1 -NX_Q92824 206942 1860 5.71 9 Golgi apparatus;Golgi apparatus;Endomembrane system;Secreted NA 1 PE1 -NX_Q92826 30676 284 9.15 17 Nucleoplasm;Nucleus Prostate cancer 0 PE1 -NX_Q92828 59763 525 8.24 9 Cell membrane;Cytosol NA 0 PE1 -NX_Q92830 93926 837 9.18 17 Nucleus NA 0 PE1 -NX_Q92831 93013 832 9.16 3 Nucleus;Nucleus NA 0 PE1 -NX_Q92832 89635 810 5.66 11 Cytoplasm;Nucleus envelope;Secreted NA 0 PE1 -NX_Q92833 138734 1246 9.46 6 Nucleus;Mitochondrion;Nucleus NA 0 PE1 -NX_Q92834 113387 1020 4.79 X Golgi apparatus;Cilium axoneme;Flagellum axoneme;Golgi apparatus;Centrosome;Cilium basal body Macular degeneration, X-linked, atrophic;Retinitis pigmentosa and sinorespiratory infections with or without deafness;Cone-rod dystrophy, X-linked 1;Retinitis pigmentosa 3 0 PE1 -NX_Q92835 133292 1189 7.38 2 Cytoplasm;Cytosol;Membrane raft;Cell membrane;Cytoskeleton;Membrane NA 0 PE1 -NX_Q92837 29093 279 7.65 10 Cytoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q92838 41294 391 8.54 X Lipid droplet;Cell membrane;Secreted;Cytoplasmic vesicle Ectodermal dysplasia 1, hypohidrotic, X-linked;Tooth agenesis, selective, X-linked, 1 1 PE1 -NX_Q92839 64832 578 9.35 19 Nucleoplasm;Cell membrane;Membrane NA 7 PE2 -NX_Q92841 80272 729 8.53 22 Nucleus speckle;Nucleolus;Nucleus;Cytosol NA 0 PE1 -NX_Q92843 20746 193 5.21 14 Mitochondrion membrane NA 0 PE1 -NX_Q92844 47816 425 5.46 2 Cytosol;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q92845 91205 792 4.96 1 NA NA 0 PE1 -NX_Q92847 41329 366 8.65 3 Cell membrane Growth hormone deficiency, isolated partial 7 PE1 -NX_Q92851 58951 521 6.95 2 Golgi apparatus;Cytoplasmic vesicle Familial non-Hodgkin lymphoma;Gastric cancer;Autoimmune lymphoproliferative syndrome 2A 0 PE1 -NX_Q92854 96150 862 8.25 9 Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_Q92858 38160 354 8.26 4 Nucleus NA 0 PE2 -NX_Q92859 160017 1461 6.08 15 Nucleoplasm;Golgi apparatus;Cell membrane;Cell membrane NA 1 PE1 -NX_Q92870 83374 758 5.74 4 Mitochondrion NA 0 PE1 -NX_Q92871 29747 262 5.53 22 Cytoplasm NA 0 PE1 -NX_Q92874 32853 299 4.8 16 Endoplasmic reticulum;Mitochondrion;Cytoplasm;Secreted NA 0 PE1 -NX_Q92876 26856 244 7.15 19 Nucleolus;Cytoskeleton;Secreted;Cytoplasm;Nucleoplasm;Nucleus membrane;Microsome;Mitochondrion NA 0 PE1 -NX_Q92878 153892 1312 6.47 5 Nucleoplasm;Nucleus;Telomere Nijmegen breakage syndrome-like disorder 0 PE1 -NX_Q92879 52063 486 8.7 11 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q92882 23787 214 5.46 9 Cytosol;Cytoplasm NA 0 PE1 -NX_Q92886 25718 237 6.9 5 Nucleus NA 0 PE1 -NX_Q92887 174207 1545 8.57 10 Apical cell membrane Dubin-Johnson syndrome 17 PE1 -NX_Q92888 102435 912 5.47 19 Cytoplasm;Cytosol;Cell membrane;Membrane NA 0 PE1 -NX_Q92889 104486 916 6.5 16 Nucleus;Nucleoplasm;Nucleus Xeroderma pigmentosum complementation group F;XFE progeroid syndrome;Fanconi anemia complementation group Q;Xeroderma pigmentosum type F/Cockayne syndrome 0 PE1 -NX_Q92890 34500 307 6.27 22 Endoplasmic reticulum;Nucleus;Cytosol NA 0 PE1 -NX_Q92896 134552 1179 6.52 16 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q92900 124345 1129 6.18 19 Cytoplasm;P-body;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q92901 46296 407 10.45 16 Nucleus speckle NA 0 PE1 -NX_Q92902 79292 700 5.62 10 NA Hermansky-Pudlak syndrome 1 0 PE1 -NX_Q92903 53304 461 8.29 4 Nucleus membrane;Nucleus;Endoplasmic reticulum membrane NA 6 PE1 -NX_Q92904 33178 295 8.92 3 Nucleus;Cytoplasm NA 0 PE1 -NX_Q92905 37579 334 6.1 8 Nucleus;Perinuclear region;Synaptic vesicle;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q92908 60033 595 8.68 18 Nucleus;Nucleus Pancreatic agenesis and congenital heart defects;Atrioventricular septal defect 5;Tetralogy of Fallot;Atrial septal defect 9;Conotruncal heart malformations 0 PE1 -NX_Q92911 68666 643 7.37 19 Membrane Thyroid dyshormonogenesis 1 13 PE1 -NX_Q92913 27564 245 9.92 X Cytosol;Nucleolus;Cytoplasm;Nucleus;Dendrite;Growth cone;Filopodium NA 0 PE1 -NX_Q92914 25005 225 9.92 17 Centrosome NA 0 PE2 -NX_Q92915 27702 247 10.11 13 Nucleus;Nucleolus Spinocerebellar ataxia 27 0 PE1 -NX_Q92917 52229 476 5.85 X Nucleus;Nucleoplasm NA 0 PE1 -NX_Q92918 91296 833 8.65 19 Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q92922 122867 1105 5.51 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q92925 58921 531 9.66 17 Nucleoplasm;Nucleus Specific granule deficiency 2 0 PE1 -NX_Q92928 22017 201 5.25 9 Membrane;Cytoplasm NA 0 PE5 -NX_Q92930 23584 207 9.15 15 Cytoplasmic vesicle;Nucleoplasm;Cell membrane;Phagosome;Phagosome membrane NA 0 PE1 -NX_Q92932 111271 1015 5.55 7 Secretory vesicle membrane;Synaptic vesicle membrane;Secretory vesicle membrane;Cell membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q92934 18392 168 6.6 11 Mitochondrion outer membrane;Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q92935 74697 676 8.51 1 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q92945 73115 711 6.85 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q92947 48127 438 8.31 19 Mitochondrion;Mitochondrion matrix Glutaric aciduria 1 0 PE1 -NX_Q92949 45247 421 5.04 17 Nucleus Allergic rhinitis 0 PE1 -NX_Q92952 59987 543 9.04 19 Cytosol;Cytoskeleton;Membrane NA 6 PE2 -NX_Q92953 102563 911 5.81 8 Midbody;Cell membrane;Nucleolus;Cell membrane;Perikaryon;Dendrite NA 6 PE1 -NX_Q92954 151077 1404 9.53 1 Secreted Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 0 PE1 -NX_Q92956 30392 283 6.93 1 Cytosol;Membrane;Cytoplasm NA 1 PE1 -NX_Q92959 70044 643 9.13 3 Cell membrane Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 12 PE1 -NX_Q92963 25145 219 9.2 1 Cell membrane Noonan syndrome 8 0 PE1 -NX_Q92966 46753 411 5.12 9 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_Q92968 44130 403 7.77 2 Cytoplasmic vesicle;Peroxisome membrane Peroxisome biogenesis disorder 11A;Peroxisome biogenesis disorder complementation group 13;Peroxisome biogenesis disorder 11B 1 PE1 -NX_Q92973 102355 898 4.83 5 Cytosol;Cytoplasm;Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q92974 111543 986 6.89 1 Cytoskeleton;Tight junction;Cytoskeleton;Cytoplasm;Golgi apparatus;Spindle;Ruffle membrane;Cytoplasmic vesicle Neurodevelopmental disorder with midbrain and hindbrain malformations 0 PE1 -NX_Q92979 26720 244 9.28 12 Nucleolus;Nucleolus;Nucleus Bowen-Conradi syndrome 0 PE1 -NX_Q92982 16345 152 5.83 9 Membrane NA 2 PE1 -NX_Q92985 54278 503 5.89 11 Nucleus;Nucleoplasm;Cytosol;Cytoplasm Immunodeficiency 39 0 PE1 -NX_Q92988 26263 240 9.25 17 Nucleoplasm;Nucleus Non-syndromic orofacial cleft 15 0 PE1 -NX_Q92989 47646 425 6.2 11 Nucleus;Nucleoplasm Pontocerebellar hypoplasia 10 0 PE1 -NX_Q92990 68208 594 5.24 1 Cytosol;Nucleoplasm Glomuvenous malformations 0 PE1 -NX_Q92993 58582 513 8.75 11 Nucleolus;Perinuclear region;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q92994 73840 677 5.29 14 Nucleoplasm;Nucleus;Nucleus Cerebellofaciodental syndrome 0 PE1 -NX_Q92995 97327 863 5.33 3 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q92997 78055 716 6.18 3 Cytoskeleton;Centrosome;Cytoplasm;Midbody ring Robinow syndrome, autosomal dominant 3 0 PE1 -NX_Q93008 292280 2570 5.52 X Growth cone;Cytoplasm;Cytoplasmic vesicle Mental retardation, X-linked 99 0 PE1 -NX_Q93009 128302 1102 5.33 16 Nucleus;Chromosome;Nucleus;Cytoplasm;PML body NA 0 PE1 -NX_Q93015 31445 286 7.75 3 Cytoplasm NA 0 PE1 -NX_Q93033 115109 1021 6.51 1 Membrane NA 1 PE1 -NX_Q93034 90955 780 8.08 11 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q93038 45385 417 6.01 1 Cell membrane;Cell junction;Secreted NA 1 PE1 -NX_Q93045 20828 179 8.4 8 Endoplasmic reticulum;Cytoplasmic vesicle;Cytoplasm;Perinuclear region;Growth cone;Membrane;Axon;Golgi apparatus;Endosome;Lamellipodium NA 0 PE1 -NX_Q93050 96413 837 6.02 17 Cell membrane;Cytosol;Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Nucleus speckle;Melanosome;Golgi apparatus NA 8 PE1 -NX_Q93052 65746 612 7.18 3 Cytosol;Nucleus;Cytoplasm;Focal adhesion;Cell junction;Cell membrane NA 0 PE1 -NX_Q93062 21802 196 7.77 8 Nucleoplasm;Cytosol;Nucleus;Cytoplasm;P-body NA 0 PE1 -NX_Q93063 82255 718 6.12 11 Golgi apparatus;Golgi apparatus membrane;Endoplasmic reticulum membrane Hereditary multiple exostoses 2;Potocki-Shaffer syndrome;Seizures, scoliosis, and macrocephaly syndrome 1 PE1 -NX_Q93070 35878 314 9.31 12 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q93073 121776 1101 5.76 15 Nucleoplasm NA 0 PE1 -NX_Q93074 243081 2177 6.63 X Nucleoplasm;Nucleus Opitz-Kaveggia syndrome;Lujan-Fryns syndrome;Ohdo syndrome, X-linked 0 PE1 -NX_Q93075 85023 761 7.07 3 Nucleus;Nucleus speckle;Cytosol;Nucleus NA 0 PE1 -NX_Q93077 14105 130 11.05 6 Chromosome;Nucleus NA 0 PE1 -NX_Q93079 13892 126 10.31 6 Chromosome;Nucleus NA 0 PE1 -NX_Q93083 6062 61 8.38 16 NA NA 0 PE1 -NX_Q93084 113977 1043 5.42 17 Nucleus membrane;Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane NA 10 PE1 -NX_Q93086 47205 422 7.46 17 Cytosol;Membrane NA 2 PE1 -NX_Q93088 44998 406 6.58 5 Cytoplasm;Cytosol NA 0 PE1 -NX_Q93091 17196 150 9.09 14 Secreted NA 0 PE1 -NX_Q93096 19815 173 9.17 6 Cell membrane;Spindle;Cytoplasm;Endoplasmic reticulum;Early endosome NA 0 PE1 -NX_Q93097 43770 391 9.32 1 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_Q93098 38721 351 8.93 10 Extracellular matrix NA 0 PE2 -NX_Q93099 49964 445 6.5 3 Nucleus;Nucleolus Alkaptonuria 0 PE1 -NX_Q93100 124884 1093 6.5 16 Golgi apparatus;Cell membrane Glycogen storage disease 9B 0 PE1 -NX_Q95365 40416 362 5.89 6 Membrane NA 1 PE1 -NX_Q95460 39366 341 5.87 1 Cell membrane;Cell membrane;Endoplasmic reticulum membrane;Secreted;Endoplasmic reticulum;Cell membrane NA 1 PE1 -NX_Q95604 41238 372 6.33 6 Membrane NA 1 PE1 -NX_Q95IE3 29878 266 7.69 6 Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane;Late endosome membrane NA 1 PE1 -NX_Q969D9 18141 159 9.75 5 Secreted NA 0 PE1 -NX_Q969E1 8814 77 10.31 5 Secreted NA 0 PE1 -NX_Q969E2 25728 229 9.07 19 Cytoplasmic vesicle;Membrane;Golgi apparatus;Cell membrane;Lipid droplet NA 4 PE1 -NX_Q969E3 17961 161 10.41 10 Secreted NA 0 PE1 -NX_Q969E4 22502 200 4.85 X Nucleus NA 0 PE1 -NX_Q969E8 20894 191 4.25 X Cytosol;Nucleolus;Cell junction;Nucleus Diamond-Blackfan anemia 14, with mandibulofacial dysostosis 0 PE1 -NX_Q969F0 20712 183 9.51 X Endoplasmic reticulum;Mitochondrion outer membrane;Mitochondrion;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q969F1 24049 213 4.13 6 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q969F2 50055 451 7.83 5 Cell membrane;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q969F8 42586 398 9.93 19 Cell membrane;Cell membrane;Cytoplasmic vesicle Precocious puberty, central 1;Hypogonadotropic hypogonadism 8 with or without anosmia 7 PE1 -NX_Q969F9 113736 1004 6.01 3 Golgi apparatus;Cytoplasm;Cytosol;Cell membrane Hermansky-Pudlak syndrome 3 0 PE1 -NX_Q969G2 43124 390 7.52 1 Nucleus speckle;Nucleus Pituitary hormone deficiency, combined, 4 0 PE1 -NX_Q969G3 46649 411 4.85 17 Nucleus;Nucleus;Nucleoplasm Coffin-Siris syndrome 5;Meningioma 0 PE1 -NX_Q969G5 27701 261 6.05 11 Cell membrane;Cytoplasm;Cytosol;Caveola NA 0 PE1 -NX_Q969G6 17623 155 7.85 9 Golgi apparatus;Cytoplasm NA 0 PE1 -NX_Q969G9 52285 470 8.82 16 Nucleolus;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q969H0 79663 707 5.5 4 Cytoplasmic vesicle;Nucleoplasm;Nucleoplasm;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q969H4 79706 720 5.22 1 Cytosol;Cytoplasm;Membrane NA 0 PE1 -NX_Q969H6 18820 163 6.89 12 Nucleolus;Nucleus;Nucleolus NA 0 PE1 -NX_Q969H8 18795 173 6.2 19 Secreted;Endoplasmic reticulum-Golgi intermediate compartment NA 0 PE1 -NX_Q969H9 11440 104 8.68 2 Cytosol NA 0 PE2 -NX_Q969I3 35101 302 6.41 11 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q969I6 60764 547 6.02 12 Cell membrane NA 10 PE1 -NX_Q969J2 61579 545 7.56 6 Nucleus NA 0 PE1 -NX_Q969J3 22222 196 5.97 12 Cytosol;Lysosome membrane NA 0 PE1 -NX_Q969J5 30550 263 8.31 6 Secreted NA 0 PE1 -NX_Q969K3 41641 372 4.83 12 Cell membrane;Nucleoplasm;Endomembrane system;Nucleus;Nucleus;Nucleus speckle;Cytosol NA 0 PE1 -NX_Q969K4 53979 478 5.15 3 Cytosol;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q969K7 23772 222 8.06 1 Cytoplasmic vesicle;Membrane NA 4 PE1 -NX_Q969L2 19125 176 5.76 8 Endomembrane system;Perinuclear region;Cell membrane;Apical cell membrane NA 4 PE1 -NX_Q969L4 14080 123 9.3 1 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_Q969M1 33917 308 6.73 1 Nucleus;Cytoplasm;Mitochondrion outer membrane NA 0 PE1 -NX_Q969M2 61872 543 7.89 6 Cell membrane;Gap junction NA 4 PE2 -NX_Q969M3 27989 257 4.18 5 Golgi apparatus;Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum;COPII-coated vesicle;Endoplasmic reticulum membrane;cis-Golgi network membrane NA 5 PE1 -NX_Q969M7 21077 185 6.31 2 Cytosol NA 0 PE1 -NX_Q969N2 65700 578 8.64 20 Endoplasmic reticulum membrane Paroxysmal nocturnal hemoglobinuria 2;Multiple congenital anomalies-hypotonia-seizures syndrome 3 1 PE1 -NX_Q969N4 38029 342 6.42 6 Cell membrane NA 7 PE2 -NX_Q969P0 65034 613 8.23 1 Cell membrane NA 1 PE1 -NX_Q969P5 41637 355 9.45 8 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q969P6 69872 601 9.46 8 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q969Q0 12469 106 10.67 14 Cytoplasm NA 0 PE1 -NX_Q969Q1 40248 353 4.85 1 Cytoplasm;Nucleus;M line;Z line NA 0 PE1 -NX_Q969Q4 21391 196 5.96 13 NA Leukemia, chronic lymphocytic 0 PE1 -NX_Q969Q5 23124 203 5.85 5 Focal adhesion;Cytosol;Membrane NA 0 PE1 -NX_Q969Q6 53316 453 5.07 14 Nucleus;Nucleus;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q969R2 101266 916 6.1 22 Membrane;Cytosol NA 0 PE1 -NX_Q969R5 79110 705 6.4 22 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q969R8 49313 447 5.06 12 Lysosome membrane;Nucleoplasm;Endoplasmic reticulum;Cytoskeleton NA 0 PE1 -NX_Q969S0 37424 331 9.24 7 Golgi apparatus membrane NA 11 PE1 -NX_Q969S2 36826 332 6.32 8 Nucleus;Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q969S3 54272 477 5.8 5 Golgi apparatus;Nucleus;Nucleolus;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q969S6 15760 136 8.8 9 Endoplasmic reticulum membrane NA 4 PE1 -NX_Q969S8 71445 669 5.44 22 Nucleus;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q969S9 86601 779 6.08 5 Mitochondrion NA 0 PE1 -NX_Q969T3 41365 373 5.11 20 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Early endosome membrane;Microtubule organizing center NA 0 PE1 -NX_Q969T4 22913 207 6.73 2 Nucleus;Cytoplasm NA 0 PE1 -NX_Q969T7 34389 300 5.95 17 Cytoplasm NA 0 PE1 -NX_Q969T9 28087 261 5.65 17 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Deafness, autosomal recessive, 107 0 PE1 -NX_Q969U6 63922 566 5.89 9 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q969U7 29396 264 6.61 18 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_Q969V1 38849 340 9.09 6 Cell membrane NA 7 PE1 -NX_Q969V3 62974 563 6.4 19 Endoplasmic reticulum;Lipid droplet;Endoplasmic reticulum membrane;Nucleoplasm NA 1 PE1 -NX_Q969V4 48283 418 5.98 17 Flagellum axoneme;Cilium axoneme NA 0 PE1 -NX_Q969V5 39800 352 8.46 1 Mitochondrion;Cytosol;Mitochondrion;Nucleoplasm;Mitochondrion outer membrane;Peroxisome NA 2 PE1 -NX_Q969V6 98919 931 5.59 22 Cytosol;Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q969W0 8466 71 6.7 14 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q969W1 43633 377 9.71 10 Cytosol;Nucleus;Endoplasmic reticulum membrane;Nucleus membrane NA 4 PE1 -NX_Q969W3 19484 186 11.26 17 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q969W8 49219 418 8.36 19 Nucleus;Nucleus NA 0 PE1 -NX_Q969W9 31609 287 6.41 20 Cytoplasmic vesicle;Golgi apparatus membrane;Early endosome membrane NA 1 PE1 -NX_Q969X0 23986 211 4.95 12 Cytosol;Cilium;Cytosol;Centrosome NA 0 PE1 -NX_Q969X1 34607 311 7.6 2 Cytoplasmic vesicle;Membrane;Lysosome membrane;Endosome membrane NA 7 PE1 -NX_Q969X2 38068 333 9.91 9 Nucleus;Golgi apparatus membrane NA 1 PE1 -NX_Q969X5 32592 290 6.59 5 Centrosome;Golgi apparatus membrane;Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 2 PE1 -NX_Q969X6 76890 686 9.03 16 Nucleolus;Nucleolus;Chromosome NA 0 PE1 -NX_Q969Y0 63800 559 9.05 3 Nucleoplasm;Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q969Y2 52058 492 6.03 19 Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 23 0 PE1 -NX_Q969Z0 70738 631 6.98 7 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q969Z3 38023 335 9.32 1 Mitochondrion;Peroxisome;Mitochondrion outer membrane NA 0 PE1 -NX_Q969Z4 46092 430 8.75 11 Nucleus;Cell membrane;Cytoplasm NA 1 PE1 -NX_Q96A00 16693 147 9.41 19 Nucleus;Cytoplasm;Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96A04 13670 125 9.18 1 Nucleus;Nucleus NA 0 PE1 -NX_Q96A05 26074 226 8.79 2 NA NA 0 PE1 -NX_Q96A08 14167 127 10.31 6 Nucleus;Chromosome NA 0 PE1 -NX_Q96A09 46688 425 8.39 1 NA NA 0 PE1 -NX_Q96A11 48956 431 9.96 11 Golgi stack membrane NA 1 PE1 -NX_Q96A19 62596 550 5.49 16 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96A22 13921 123 9.51 11 Cell junction NA 0 PE1 -NX_Q96A23 62395 557 5.92 3 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96A25 28920 262 6.74 17 Membrane NA 1 PE1 -NX_Q96A26 17342 154 9.81 3 Cytosol;Mitochondrion;Membrane;Mitochondrion NA 1 PE1 -NX_Q96A28 32436 289 7.58 1 Membrane NA 1 PE2 -NX_Q96A29 39809 364 8.66 11 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2C 8 PE1 -NX_Q96A32 19015 169 4.91 16 NA NA 0 PE1 -NX_Q96A33 55874 483 4.76 17 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_Q96A35 24915 216 9.33 1 Mitochondrion NA 0 PE1 -NX_Q96A37 26122 237 8.42 16 Cytosol;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q96A44 30179 273 9.39 3 Cytoplasm;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q96A46 39272 364 8.86 10 Mitochondrion inner membrane NA 6 PE1 -NX_Q96A47 39768 359 8.64 15 Cytoplasm;Nucleus NA 0 PE1 -NX_Q96A49 39933 352 4.45 X Cytosol;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q96A54 42616 375 6.53 1 Cell membrane NA 7 PE1 -NX_Q96A56 27366 240 4.75 8 Cytosol;Cytosol;Nucleus;PML body;Autophagosome NA 0 PE1 -NX_Q96A57 13188 120 9.3 20 Endoplasmic reticulum;Membrane;trans-Golgi network;Synaptic vesicle;Early endosome;Recycling endosome;Late endosome;Autophagosome Parkinson disease 2 PE1 -NX_Q96A58 22608 199 6.91 12 Cytoplasm NA 0 PE1 -NX_Q96A59 44911 401 8.84 16 Cytoplasmic vesicle;Cytoskeleton;Membrane;Tight junction NA 4 PE1 -NX_Q96A61 34653 297 4.14 5 Nucleolus;Cytoskeleton NA 0 PE1 -NX_Q96A65 110498 974 6.07 7 Cytoplasm;Midbody ring;Cell projection;Nucleolus;Nucleus NA 0 PE1 -NX_Q96A70 49980 460 5.4 1 Cytosol;Dendrite;Axon;Cytoplasmic granule;trans-Golgi network;Cytoplasmic vesicle;Membrane;Endoplasmic reticulum-Golgi intermediate compartment;cis-Golgi network;Perikaryon;Perinuclear region;Nucleus;Cytoplasm NA 0 PE1 -NX_Q96A72 17276 148 5.96 12 Nucleus NA 0 PE1 -NX_Q96A73 33247 305 9.39 5 Cytoplasm;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q96A83 45381 441 7.02 7 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_Q96A84 45292 441 9.31 22 Extracellular matrix NA 0 PE1 -NX_Q96A98 11202 100 11.83 19 Secreted NA 0 PE1 -NX_Q96A99 52339 478 9.64 16 Cytosol;Secreted NA 0 PE2 -NX_Q96AA3 60335 541 9.07 3 Cytoplasmic vesicle;Membrane Congenital disorder of glycosylation 1N 12 PE1 -NX_Q96AA8 94934 810 5.88 5 Golgi apparatus;Golgi apparatus NA 0 PE1 -NX_Q96AB3 22337 205 7.67 19 Cytosol;Nucleus;Cytoplasm;Mitochondrion NA 0 PE1 -NX_Q96AB6 34677 310 5.82 16 Cytoplasm;Golgi apparatus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q96AC1 77861 680 6.26 14 Cell cortex;Cytoskeleton;Focal adhesion;Focal adhesion;Nucleoplasm;Membrane;Lamellipodium membrane;Nucleus;I band;Cell surface;Cytoplasm NA 0 PE1 -NX_Q96AC6 90147 838 9.62 8 Cytosol;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q96AD5 55316 504 6.65 11 Nucleoplasm;Lipid droplet;Cell membrane;Lipid droplet Neutral lipid storage disease with myopathy 1 PE1 -NX_Q96AE4 67560 644 7.18 1 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96AE7 129558 1141 6.11 11 Cell membrane;Cytosol;Cytoplasm;Cell membrane;Cytoskeleton NA 0 PE1 -NX_Q96AG3 46174 418 6.97 5 Mitochondrion;Mitochondrion outer membrane Neuropathy, hereditary motor and sensory, 6B 6 PE1 -NX_Q96AG4 34930 307 9.61 17 Endoplasmic reticulum;Microsome membrane;Endoplasmic reticulum membrane;Nucleus envelope;Endoplasmic reticulum NA 1 PE1 -NX_Q96AH0 22423 204 9.63 2 Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q96AH8 22511 199 6.31 1 Late endosome;Lysosome;Golgi apparatus;trans-Golgi network;Phagosome;Phagosome membrane NA 0 PE1 -NX_Q96AJ1 48125 413 4.68 16 Nucleoplasm;Nucleus;Cilium;Cytoplasmic vesicle NA 0 PE1 -NX_Q96AJ9 25218 217 6.06 10 Golgi apparatus;Cytoplasmic vesicle;Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 -NX_Q96AK3 46598 386 8.73 22 Cytoplasm;P-body NA 0 PE1 -NX_Q96AM1 38171 343 8.96 11 Nucleus membrane;Cell membrane;Cell membrane NA 7 PE1 -NX_Q96AN5 51715 459 9.69 19 Membrane;Nucleolus NA 2 PE1 -NX_Q96AP0 57733 544 6.29 16 Nucleus;Telomere;Nucleus Dyskeratosis congenita, autosomal recessive, 7;Dyskeratosis congenita, autosomal dominant, 6 0 PE1 -NX_Q96AP4 65959 578 6.05 6 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96AP7 41176 390 9.42 11 Cytoskeleton;Adherens junction;Tight junction;Cell membrane NA 1 PE1 -NX_Q96AQ1 41605 378 10.52 2 Nucleus NA 0 PE1 -NX_Q96AQ2 22172 219 8.32 1 Midbody;Cytosol;Membrane NA 4 PE2 -NX_Q96AQ6 80643 731 5.21 1 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q96AQ7 26754 238 8.95 3 Nucleus;Endoplasmic reticulum;Lipid droplet Lipodystrophy, familial partial, 5 0 PE1 -NX_Q96AQ8 39694 359 9.67 6 Mitochondrion inner membrane NA 2 PE1 -NX_Q96AQ9 30351 280 4.51 1 Cytosol;Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q96AT1 17465 154 5.86 3 Nucleus;Cytoskeleton NA 0 PE1 -NX_Q96AT9 24928 228 5.33 2 NA NA 0 PE1 -NX_Q96AV8 99888 911 8.33 12 Nucleus;Nucleus speckle NA 0 PE1 -NX_Q96AW1 19224 172 8.77 7 Golgi apparatus;Cytoplasmic vesicle membrane NA 1 PE1 -NX_Q96AX1 67611 596 6.5 12 Nucleoplasm;Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane;Early endosome;Autophagosome;Clathrin-coated vesicle Mucopolysaccharidosis-plus syndrome 0 PE1 -NX_Q96AX2 24815 223 5.98 17 Cytoplasmic vesicle NA 0 PE1 -NX_Q96AX9 109939 1013 8.81 1 Cytoplasm;Endosome NA 0 PE1 -NX_Q96AY2 63252 570 6.7 17 Nucleus;Nucleolus;Cytosol NA 0 PE1 -NX_Q96AY3 64245 582 5.36 17 Endoplasmic reticulum lumen;Cytoplasmic vesicle Bruck syndrome 1;Osteogenesis imperfecta 11 0 PE1 -NX_Q96AY4 270884 2481 6.42 22 Cytoskeleton;Centrosome;Spindle;Mitochondrion;Nucleolus;Spindle pole;Midbody NA 0 PE1 -NX_Q96AZ1 24911 226 5.29 12 Nucleus;Golgi apparatus;Cytoplasm;Nucleoplasm;Centrosome;Cytoplasm NA 0 PE1 -NX_Q96AZ6 20363 181 9.09 15 Cajal body;Nucleus;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q96B01 38457 352 9.18 12 Nucleus;Nucleus NA 0 PE1 -NX_Q96B02 17331 151 7.64 8 Nucleolus;Nucleus NA 0 PE1 -NX_Q96B18 64949 629 10.38 19 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q96B21 31826 275 6.45 11 Nucleoplasm;Cytosol;Membrane NA 7 PE1 -NX_Q96B23 43324 403 4.77 18 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96B26 30040 276 5.17 13 Cytoplasm;Nucleus;Nucleolus;Mitochondrion Pontocerebellar hypoplasia 1C 0 PE1 -NX_Q96B33 31915 292 7.51 8 Cell membrane;Nucleus;Tight junction;Cell membrane NA 4 PE1 -NX_Q96B36 27383 256 4.65 19 Cytosol;Cytosol NA 0 PE1 -NX_Q96B42 16265 140 9.35 2 Mitochondrion;Cytoplasm;Nucleus membrane NA 3 PE1 -NX_Q96B45 11564 105 6.27 10 Lysosome membrane;Cytosol;Nucleus speckle NA 0 PE1 -NX_Q96B49 8002 74 4.66 6 Mitochondrion outer membrane;Mitochondrion NA 0 PE1 -NX_Q96B54 20481 188 4.14 19 Nucleolus;Mitochondrion NA 0 PE1 -NX_Q96B67 46395 414 6.16 5 Cytoplasm;Cell membrane;Lysosome;Endosome;Early endosome NA 0 PE1 -NX_Q96B70 53167 501 8.01 19 Nucleolus NA 0 PE1 -NX_Q96B77 24893 213 9.9 16 Mitochondrion;Cell junction;Membrane NA 2 PE1 -NX_Q96B86 49347 450 7.18 15 Endoplasmic reticulum;Cell membrane;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q96B96 17522 161 5.05 16 Cytoplasmic vesicle;Membrane NA 3 PE1 -NX_Q96B97 73126 665 6.24 X Cytoplasm;Cell membrane;Cytoskeleton;Cytoplasm;Cytoplasmic vesicle membrane;Synaptosome;Focal adhesion;Cytosol NA 0 PE1 -NX_Q96BA8 57005 519 5.03 11 Cell membrane;Endoplasmic reticulum membrane;Cytosol;Nucleus Osteogenesis imperfecta 16 1 PE1 -NX_Q96BD0 77193 722 8.15 20 Cell membrane;Cell junction NA 12 PE1 -NX_Q96BD5 74854 680 9.51 11 Nucleus NA 0 PE1 -NX_Q96BD6 30942 273 8.34 1 Cytoplasm NA 0 PE1 -NX_Q96BD8 29484 255 6.68 18 Cytoskeleton;Spindle;Kinetochore NA 0 PE1 -NX_Q96BF3 30675 282 9.13 19 Cell membrane NA 1 PE1 -NX_Q96BF6 62837 587 5.64 9 Nucleus;Nucleolus;Mitochondrion NA 0 PE1 -NX_Q96BH1 51219 459 6.1 2 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q96BH3 26106 223 6.2 19 Secreted NA 0 PE1 -NX_Q96BI1 44846 424 9.66 11 Apical cell membrane Lung cancer;Rhabdomyosarcoma, embryonal, 1 10 PE1 -NX_Q96BI3 28996 265 7.74 1 Endoplasmic reticulum membrane;Golgi stack membrane NA 7 PE1 -NX_Q96BJ3 35023 306 6.13 1 Cytosol;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q96BJ8 81467 720 5.94 16 Cell junction;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q96BK5 37035 328 9.61 8 Nucleus;Nucleolus;Telomere;Kinetochore NA 0 PE1 -NX_Q96BM0 9549 104 9.7 14 Membrane NA 3 PE1 -NX_Q96BM1 34295 317 9.59 14 NA NA 0 PE1 -NX_Q96BM9 21416 186 7.63 1 Late endosome membrane;Lysosome membrane NA 0 PE1 -NX_Q96BN2 37382 335 6.92 1 Focal adhesion;Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q96BN6 64618 582 6.3 10 Nucleoplasm NA 0 PE1 -NX_Q96BN8 40263 352 5.35 5 Cell membrane;Mitochondrion;Cytoplasm Autoinflammation, panniculitis, and dermatosis syndrome 0 PE1 -NX_Q96BP2 13475 118 10.24 10 Nucleoplasm;Mitochondrion;Nucleolus;Mitochondrion;Nucleus NA 0 PE1 -NX_Q96BP3 73575 646 6.7 5 Nucleus;Nucleus NA 0 PE1 -NX_Q96BQ1 24963 224 9.42 3 Secreted NA 0 PE1 -NX_Q96BQ3 52265 446 8.24 2 NA NA 0 PE1 -NX_Q96BQ5 30834 260 9.26 5 Nucleus;Nucleolus NA 0 PE1 -NX_Q96BR1 57108 496 6.45 8 Cytoplasmic vesicle;Early endosome;Recycling endosome NA 0 PE1 -NX_Q96BR5 25709 231 5.66 1 Mitochondrion intermembrane space;Mitochondrion;Nucleus NA 0 PE1 -NX_Q96BR6 52597 464 9.06 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q96BR9 50141 441 6.81 1 Focal adhesion;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q96BS2 24750 214 4.84 12 Cytosol;Cell membrane;Lamellipodium;Ruffle membrane;Nucleus;Nucleus;Cytoplasm;Membrane NA 0 PE1 -NX_Q96BT1 33461 292 10.19 3 NA NA 0 PE2 -NX_Q96BT3 60423 561 6.14 16 Centromere;Kinetochore;Nucleus;Nucleus NA 0 PE1 -NX_Q96BT7 75208 664 8.21 11 Nucleus;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96BU1 45582 408 5.02 1 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q96BV0 59752 537 10.23 7 Nucleus NA 0 PE1 -NX_Q96BW1 33786 309 5.71 X Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96BW5 39018 349 6.07 10 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96BW9 51067 452 8.23 3 Cytosol;Mitochondrion inner membrane NA 0 PE1 -NX_Q96BX8 25464 217 8.81 19 NA NA 0 PE1 -NX_Q96BY2 39513 351 5.21 14 Cytoplasm;Nucleus;Cell junction NA 0 PE1 -NX_Q96BY6 249531 2186 6.72 2 Nucleoplasm;Cytosol;Nucleus;Cytoplasm;Dendritic spine NA 0 PE1 -NX_Q96BY7 232763 2078 5.49 14 Nucleoplasm;Preautophagosomal structure membrane;Lipid droplet NA 0 PE1 -NX_Q96BY9 36975 339 7.5 8 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum NA 1 PE1 -NX_Q96BZ4 55626 506 8.61 14 Membrane NA 1 PE1 -NX_Q96BZ8 30529 264 9.68 19 Cell membrane;Nucleus NA 0 PE1 -NX_Q96BZ9 45855 403 6.37 20 Membrane Warburg micro syndrome 4 2 PE1 -NX_Q96C00 50602 473 6.29 6 Nucleus NA 0 PE1 -NX_Q96C01 15641 138 7.56 2 Mitochondrion NA 0 PE1 -NX_Q96C03 49269 454 5.01 17 Mitochondrion outer membrane NA 1 PE1 -NX_Q96C10 76613 678 6.98 17 Nucleoplasm;Golgi apparatus;Cytosol;Cytoplasm NA 0 PE1 -NX_Q96C11 59993 551 5.9 1 Cytoplasm;Nucleus;Nucleus;Nucleoplasm Amyotrophic lateral sclerosis 0 PE1 -NX_Q96C12 97682 935 6.75 16 Nucleoplasm;Cytosol;Cytoplasm;Focal adhesion ACTH-independent macronodular adrenal hyperplasia 2 0 PE1 -NX_Q96C19 26697 240 5.15 1 Cytosol;Membrane raft NA 0 PE1 -NX_Q96C23 37766 342 6.18 2 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q96C24 76024 671 9.1 X Cytosol;Microtubule organizing center;Membrane;Nucleoplasm;Cell membrane;Secretory vesicle membrane NA 0 PE1 -NX_Q96C28 43088 371 9.73 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96C34 67643 613 5.84 17 Nucleus speckle;Cytosol NA 0 PE1 -NX_Q96C36 33637 320 7.66 1 Mitochondrion;Cytoplasm;Mitochondrion Leukodystrophy, hypomyelinating, 10 0 PE1 -NX_Q96C45 142442 1275 5.9 3 Cytosol;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q96C55 28709 264 9.07 19 Nucleus;Nucleus NA 0 PE1 -NX_Q96C57 28171 262 9.44 12 Nucleus;Golgi apparatus;Nucleolus NA 0 PE1 -NX_Q96C74 26107 230 7.62 5 Flagellum NA 0 PE1 -NX_Q96C86 38609 337 5.93 11 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Al-Raqad syndrome 0 PE1 -NX_Q96C90 15911 147 4.75 11 Cytoplasm;Cytoplasm NA 0 PE1 -NX_Q96C92 47961 435 5.03 9 Cytoplasm;Midbody;Early endosome;Recycling endosome NA 0 PE1 -NX_Q96CA5 32798 298 5.43 20 Microtubule organizing center;Nucleus;Golgi apparatus;Cytoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q96CB5 18380 159 10.91 8 Nucleus;Nucleoplasm NA 0 PE2 -NX_Q96CB8 48808 462 9.72 4 Cytosol;Nucleus;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q96CB9 43089 384 8.47 1 Mitochondrion NA 0 PE1 -NX_Q96CC6 97401 855 8.8 16 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus membrane NA 7 PE1 -NX_Q96CD0 40516 374 6.96 16 Golgi apparatus NA 0 PE1 -NX_Q96CD2 22395 204 5.72 15 Cytosol NA 0 PE1 -NX_Q96CE8 22277 201 7.4 3 Membrane;Cytoplasmic vesicle;Nucleolus NA 4 PE2 -NX_Q96CF2 26411 233 5.83 8 Midbody ring;Late endosome membrane;Cytosol NA 0 PE1 -NX_Q96CG3 21445 184 5.04 4 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q96CG8 26224 243 8.31 8 Extracellular matrix;Nucleoplasm Barrett esophagus 0 PE1 -NX_Q96CH1 36580 333 8.55 7 Cell membrane NA 7 PE2 -NX_Q96CJ1 28792 260 5.04 3 Nucleus speckle NA 0 PE1 -NX_Q96CK0 67235 615 6.53 19 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q96CM3 42205 377 9.9 11 Mitochondrion;Nucleoplasm;Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q96CM4 23943 212 4.72 19 Nucleus outer membrane NA 0 PE1 -NX_Q96CM8 68125 615 7.5 17 Cytosol;Cytoskeleton;Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q96CN4 91376 794 5.25 19 Nucleus NA 0 PE1 -NX_Q96CN5 75951 670 5.95 17 Cytosol;Centrosome;Nucleoplasm;Cell membrane;Centrosome NA 0 PE1 -NX_Q96CN7 32237 298 6.96 5 Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle NA 0 PE1 -NX_Q96CN9 87811 775 5.35 7 Cytosol;Golgi apparatus membrane;Cytoplasm;Cell membrane;Golgi apparatus NA 0 PE1 -NX_Q96CP2 14564 140 8.6 16 Nucleus NA 0 PE1 -NX_Q96CP6 80680 724 6.29 19 Cytosol;Membrane;Cell membrane NA 1 PE1 -NX_Q96CP7 28548 247 9.54 17 Cell membrane;Cytoplasm;Cell membrane NA 4 PE1 -NX_Q96CQ1 34283 311 8.8 3 Cytosol;Mitochondrion inner membrane;Nucleus;Mitochondrion NA 6 PE1 -NX_Q96CS2 31863 278 5.41 18 Cytosol;Cytoplasm;Centrosome;Spindle;Spindle pole NA 0 PE1 -NX_Q96CS3 52623 445 5.46 5 Lipid droplet;Endoplasmic reticulum;Cytoplasm;Lipid droplet;Endoplasmic reticulum NA 0 PE1 -NX_Q96CS4 56907 500 9.89 16 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q96CS7 24736 222 5.15 2 Recycling endosome membrane NA 0 PE1 -NX_Q96CT2 94228 875 6.73 2 Mitochondrion;Cytosol NA 0 PE1 -NX_Q96CT7 25835 223 9.54 19 Midbody;Centrosome;Cell membrane;Cytosol NA 0 PE1 -NX_Q96CU9 53812 486 7.66 11 Mitochondrion;Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency 1 PE1 -NX_Q96CV9 65921 577 5.17 10 Cytosol;Cytoplasmic vesicle;Autophagosome;trans-Golgi network;Perinuclear region;Recycling endosome;Golgi apparatus Glaucoma, normal pressure;Glaucoma 1, open angle, E;Amyotrophic lateral sclerosis 12 0 PE1 -NX_Q96CW1 49655 435 9.57 3 Cell membrane;Coated pit;Cell membrane NA 0 PE1 -NX_Q96CW5 103571 907 8.35 13 Centrosome NA 0 PE1 -NX_Q96CW6 35028 309 4.52 16 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q96CW9 59799 530 6.13 9 Cell membrane NA 0 PE1 -NX_Q96CX2 35701 325 5.51 13 Mitochondrion;Postsynaptic cell membrane;Presynaptic cell membrane NA 0 PE1 -NX_Q96CX3 31179 271 9.39 3 Endoplasmic reticulum;Nucleus NA 0 PE1 -NX_Q96CX6 40586 371 6.41 3 Cytosol;Nucleus NA 0 PE1 -NX_Q96D03 21740 193 7.49 4 Cell membrane;Nucleoplasm;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q96D05 13238 121 11.58 10 Cytosol;Membrane;Nucleus;Centrosome NA 1 PE1 -NX_Q96D09 93773 838 4.96 X Cytoplasm;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96D15 37493 328 4.74 19 Endoplasmic reticulum;Cytoplasmic vesicle;Endoplasmic reticulum lumen NA 0 PE1 -NX_Q96D21 30366 266 9.09 22 Cell membrane;Cell membrane;Cytosol NA 0 PE1 -NX_Q96D31 32668 301 8.45 12 Cytosol;Cell membrane Immunodeficiency 9;Myopathy, tubular aggregate, 2 4 PE1 -NX_Q96D42 38720 359 6.44 5 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q96D46 57603 503 6.76 3 Cytoplasm;Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q96D53 60069 544 6.84 19 Mitochondrion;Mitochondrion membrane;Cytosol;Cell membrane Nephrotic syndrome 9 1 PE1 -NX_Q96D59 21617 192 7.59 9 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_Q96D70 30350 268 8.82 19 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q96D71 86662 796 5.45 6 Cytoplasmic vesicle;Clathrin-coated pit;Cell membrane;Cytosol NA 0 PE1 -NX_Q96D96 31683 273 6.33 12 Cell membrane;Membrane;Cell membrane NA 4 PE1 -NX_Q96D98 16985 161 4.67 19 Nucleus NA 0 PE1 -NX_Q96DA0 22739 208 6.74 16 Cytoplasmic vesicle;Secreted;Nucleoplasm NA 0 PE1 -NX_Q96DA2 24622 213 7.69 X Golgi apparatus;Cell membrane;Golgi apparatus;Cytoplasmic vesicle membrane Waisman syndrome;Mental retardation, X-linked 72 0 PE1 -NX_Q96DA6 12499 116 10.1 3 Mitochondrion inner membrane 3-methylglutaconic aciduria 5 1 PE1 -NX_Q96DB2 39183 347 7.17 3 Cell membrane;Nucleus NA 0 PE1 -NX_Q96DB5 35808 314 8.64 8 Cytoplasm;Centrosome;Cytoplasm;Spindle;Spindle pole NA 0 PE1 -NX_Q96DB9 19472 178 5.51 19 Cell membrane;Membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q96DC7 54442 493 5.58 5 Mitochondrion;Membrane;Nucleoplasm NA 2 PE1 -NX_Q96DC8 32634 303 8.9 10 Nucleolus;Mitochondrion;Mitochondrion;Nucleus NA 0 PE1 -NX_Q96DC9 27213 234 5.81 14 Nucleoplasm NA 0 PE1 -NX_Q96DD0 38793 335 5.99 1 M line NA 0 PE1 -NX_Q96DD7 21522 197 8.21 1 Membrane NA 1 PE1 -NX_Q96DE0 21273 195 6.38 3 Nucleus;Nucleolus;Nucleus;Nucleoplasm;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q96DE5 11667 110 4.91 10 Cytosol;Cytoplasm;Nucleus;Kinetochore NA 0 PE1 -NX_Q96DE9 17780 158 6.43 X NA NA 0 PE2 -NX_Q96DF8 52568 476 7.06 22 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96DG6 28048 245 6.71 5 Cytosol NA 0 PE1 -NX_Q96DH6 35197 328 8.62 17 Cytosol;Cytoplasm NA 0 PE1 -NX_Q96DI7 39311 357 8.34 1 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q96DL1 64901 559 8.85 11 Membrane NA 1 PE1 -NX_Q96DM1 67004 585 9.29 15 Nucleoplasm;Centrosome NA 0 PE2 -NX_Q96DM3 74975 657 7.89 18 Nucleus NA 0 PE1 -NX_Q96DN0 30480 273 4.57 12 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q96DN2 99915 955 6.06 11 Nucleus;Cytosol;Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_Q96DN5 124189 1066 8.84 8 Centrosome NA 0 PE1 -NX_Q96DN6 101201 1003 9.72 12 Chromosome;Nucleus;Nucleus NA 0 PE1 -NX_Q96DP5 43832 389 9.7 15 Cytosol;Nucleoplasm;Mitochondrion Combined oxidative phosphorylation deficiency 15;Leigh syndrome 0 PE1 -NX_Q96DR4 23517 205 5.12 5 Cell membrane NA 0 PE1 -NX_Q96DR5 27011 249 5.35 20 Secreted NA 0 PE1 -NX_Q96DR7 97346 871 9.07 3 Cell membrane;Ruffle;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q96DR8 9039 90 4.41 12 Membrane;Secreted NA 0 PE1 -NX_Q96DS6 15909 147 8.48 11 Membrane NA 2 PE2 -NX_Q96DT0 37542 336 9.3 11 Nucleus NA 0 PE1 -NX_Q96DT5 520369 4516 6.03 7 Cilium axoneme Ciliary dyskinesia, primary, 7 0 PE1 -NX_Q96DT6 52497 458 5.65 1 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q96DT7 94894 871 5.05 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96DU3 37345 332 6.32 1 Cell membrane NA 1 PE1 -NX_Q96DU7 75207 683 5.03 19 Nucleus speckle;Nucleus;Cytoplasm Kawasaki disease 0 PE1 -NX_Q96DU9 43331 382 9.55 X Mitochondrion matrix;Cytoplasm NA 0 PE1 -NX_Q96DV4 44597 380 7.19 17 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q96DW6 33566 304 9.57 3 Mitochondrion inner membrane Anemia, sideroblastic, 2, pyridoxine-refractory 6 PE1 -NX_Q96DX4 64180 576 5.35 16 Secreted Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type 0 PE1 -NX_Q96DX5 31858 294 6.48 X Nucleus;Cytosol;Mitochondrion NA 0 PE1 -NX_Q96DX7 38472 344 4.16 11 Cytoplasmic vesicle;Cell membrane Aniridia 3 0 PE1 -NX_Q96DX8 27863 246 8.56 3 Membrane;Nucleus NA 1 PE1 -NX_Q96DY2 52359 449 9.26 12 Nucleus NA 0 PE1 -NX_Q96DY7 102193 904 7.91 8 Nucleus NA 0 PE1 -NX_Q96DZ1 54858 483 5.88 2 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q96DZ5 59560 547 7.93 19 Golgi apparatus;Golgi stack;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q96DZ7 22433 209 8.87 3 Membrane NA 4 PE2 -NX_Q96DZ9 24653 223 6.13 14 Membrane NA 4 PE1 -NX_Q96E09 30529 287 6.32 9 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96E11 29277 262 9.8 9 Mitochondrion;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q96E14 15865 147 7.76 16 Nucleus;Cytosol;Nucleus speckle NA 0 PE1 -NX_Q96E16 12439 107 5.37 8 Membrane NA 1 PE1 -NX_Q96E17 25952 227 5.09 5 Cell membrane;Cytosol NA 0 PE1 -NX_Q96E22 33224 293 8.81 6 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cell membrane Congenital disorder of glycosylation 1AA 3 PE1 -NX_Q96E29 47971 417 8.6 8 Mitochondrion;Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q96E35 26433 227 6.4 9 Cell membrane;Cytoplasmic vesicle;Golgi apparatus;Cytoplasm NA 0 PE1 -NX_Q96E39 42142 390 9.9 1 Nucleus NA 0 PE1 -NX_Q96E40 25166 222 9.3 9 Cytoplasm;Acrosome;Mitochondrion NA 0 PE1 -NX_Q96E52 60120 524 9.36 1 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion NA 2 PE1 -NX_Q96E66 22206 192 9.38 11 Nucleolus;Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q96E93 21831 195 5.27 12 Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_Q96EA4 70172 605 5.41 5 Kinetochore;Centrosome;Nucleus;Cytosol;Spindle pole NA 0 PE1 -NX_Q96EB1 46588 424 8.75 11 Nucleus;Cytoplasm;Cytoplasm;Nucleus;Nucleoplasm Aniridia 2 0 PE1 -NX_Q96EB6 81681 747 4.55 10 Cytosol;Nucleus;Cytoplasm;PML body;Nucleus;Mitochondrion;Cytoplasm;Mitochondrion NA 0 PE1 -NX_Q96EC8 26256 236 5.46 X Endoplasmic reticulum;Golgi apparatus membrane;Cytoplasmic vesicle NA 5 PE1 -NX_Q96ED9 83207 719 5.36 19 Centrosome;Cytoplasm;Cytoskeleton;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q96EE3 39649 360 8.34 18 Nuclear pore complex;Kinetochore;Lysosome membrane NA 0 PE1 -NX_Q96EE4 15668 140 9.87 7 Secreted;Nucleoplasm NA 0 PE1 -NX_Q96EF0 78919 704 6.2 X Nucleus envelope NA 0 PE1 -NX_Q96EF6 31479 278 8.46 19 NA NA 0 PE1 -NX_Q96EF9 33285 292 6.61 8 NA NA 0 PE2 -NX_Q96EG1 57061 525 6.16 17 Lysosome NA 0 PE1 -NX_Q96EG3 58078 531 9.52 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q96EH3 26170 234 5.32 7 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q96EH5 6293 51 12.41 3 NA NA 0 PE1 -NX_Q96EH8 28789 262 8.36 2 NA NA 0 PE2 -NX_Q96EI5 24647 215 5.16 X Nucleus NA 0 PE1 -NX_Q96EK2 57455 531 9.43 22 Nucleus;Nucleolus NA 0 PE2 -NX_Q96EK4 34455 314 9.18 16 Nucleoplasm;Nucleus;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q96EK5 71814 621 5.34 10 Cytoskeleton Goldberg-Shprintzen syndrome 0 PE1 -NX_Q96EK6 20749 184 8.17 14 Endosome membrane;Golgi apparatus membrane NA 0 PE1 -NX_Q96EK7 103783 910 5.49 6 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96EK9 38616 354 6.47 1 NA NA 0 PE1 -NX_Q96EL1 31328 285 5.28 3 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96EL2 19015 167 9.48 7 Mitochondrion NA 0 PE1 -NX_Q96EL3 12107 112 9.05 2 Mitochondrion NA 0 PE1 -NX_Q96EM0 38138 354 6.2 14 Cytoplasmic vesicle NA 0 PE1 -NX_Q96EN8 98120 888 6.23 18 Mitochondrion;Cytosol Xanthinuria 2 0 PE1 -NX_Q96EN9 22599 201 6.47 19 Cytoplasmic vesicle NA 0 PE1 -NX_Q96EP0 119652 1072 6.14 14 Cytosol;Cytoplasm NA 0 PE1 -NX_Q96EP1 73386 664 5.71 12 PML body;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q96EP5 43383 407 8.73 19 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96EP9 46504 437 5.09 4 Cell membrane NA 7 PE1 -NX_Q96EQ0 33429 304 4.8 5 Nucleus NA 0 PE1 -NX_Q96EQ8 26454 232 6.74 18 Golgi apparatus membrane;Nucleolus;Golgi apparatus;Cytosol Tenorio syndrome 0 PE1 -NX_Q96ER3 53558 474 4.38 11 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96ER9 45811 411 8.3 3 Nucleoplasm;Membrane;Mitochondrion;Centrosome NA 2 PE1 -NX_Q96ES6 42696 412 9.34 8 Membrane;Cytoplasmic vesicle NA 12 PE1 -NX_Q96ES7 33238 293 8.2 16 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q96ET8 31105 276 9.47 17 Cell membrane;Membrane NA 2 PE1 -NX_Q96EU6 29823 259 10.17 6 Nucleolus;Nucleus;Nucleolus NA 0 PE1 -NX_Q96EU7 36382 318 6.36 X Cytosol;Membrane Tn polyagglutination syndrome 1 PE1 -NX_Q96EV2 129986 1170 6.45 7 Nucleoplasm NA 0 PE1 -NX_Q96EV8 39493 351 4.59 6 Midbody;Endoplasmic reticulum;Cytoplasmic vesicle membrane;Endosome membrane;Melanosome membrane;Postsynaptic density;Postsynaptic cell membrane;Synaptic vesicle membrane;Cytoplasm;Nucleus;Cytoskeleton Hermansky-Pudlak syndrome 7 0 PE1 -NX_Q96EW2 55167 488 5.38 3 Cytoplasm;Mitochondrion NA 0 PE1 -NX_Q96EX1 10799 92 8.01 1 Membrane;Mitochondrion NA 1 PE1 -NX_Q96EX2 48965 444 8.08 12 Nucleoplasm;Cytosol;Membrane NA 4 PE1 -NX_Q96EX3 57801 536 6.16 9 Cytosol;Cilium basal body;Cilium axoneme;Cytoplasm Short-rib thoracic dysplasia 11 with or without polydactyly 0 PE1 -NX_Q96EY1 52489 480 9.37 16 Mitochondrion;Mitochondrion matrix;Cytosol;Postsynaptic cell membrane NA 0 PE1 -NX_Q96EY4 23864 203 9.33 4 Nucleolus NA 0 PE1 -NX_Q96EY5 28783 273 9.1 19 Golgi apparatus;Nucleoplasm;Cytoplasm;Nucleus;Endosome;Centrosome;Late endosome membrane NA 0 PE1 -NX_Q96EY7 78550 689 6 2 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q96EY8 27388 250 8.86 12 Mitochondrion;Mitochondrion Methylmalonic aciduria type cblB 0 PE1 -NX_Q96EY9 38071 351 8.06 19 Nucleus Mental retardation, autosomal recessive 36 0 PE1 -NX_Q96EZ4 33556 313 9.21 11 Cytoplasmic vesicle;Nucleus;Cytoplasm NA 0 PE2 -NX_Q96EZ8 51803 462 9.41 12 Nucleus;Nucleolus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q96F05 46101 449 5.59 11 Cytoplasmic vesicle;Cell membrane;trans-Golgi network membrane;Nucleoplasm NA 1 PE1 -NX_Q96F07 148399 1278 7.03 5 Cytoplasm;Endoplasmic reticulum;Cell membrane;Cytoplasm;Nucleus;Perinuclear region;Cytosol;Synaptosome NA 0 PE1 -NX_Q96F10 19155 170 5.77 17 Cytoplasm NA 0 PE1 -NX_Q96F15 34846 307 7.6 7 Mitochondrion outer membrane;Lysosome NA 1 PE1 -NX_Q96F24 32378 287 5.61 10 Cytoplasm;Nucleus;Cytosol;Nucleoplasm;Cytoplasmic vesicle;Cytoplasm;Autophagosome NA 0 PE1 -NX_Q96F25 24151 216 9.13 1 Endoplasmic reticulum membrane;Nucleus membrane;Nucleolus;Nucleus Myasthenic syndrome, congenital, 15 1 PE1 -NX_Q96F44 52774 468 5.5 1 Nucleus;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96F45 62555 646 8.94 10 Cell membrane;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96F46 96122 866 5.06 22 Cytosol;Cell membrane;Nucleoplasm;Secreted Immunodeficiency 51 1 PE1 -NX_Q96F63 38947 343 4.52 19 Cytosol;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q96F81 170934 1524 6.44 1 Membrane;Nucleus NA 12 PE1 -NX_Q96F83 35690 325 5.96 14 Nucleus;Nucleoplasm;Cytosol NA 0 PE2 -NX_Q96F85 18648 164 7.72 2 Cytosol NA 0 PE1 -NX_Q96F86 56078 508 6.65 15 Cytosol;P-body Mental retardation, autosomal recessive 50 0 PE1 -NX_Q96FA3 46286 418 8.33 2 NA NA 0 PE1 -NX_Q96FA7 26352 236 7.05 7 Cytoplasmic vesicle;Nucleus membrane NA 0 PE2 -NX_Q96FB5 52981 475 8.22 1 Nucleolus;Cytosol;Membrane NA 1 PE1 -NX_Q96FC7 42486 376 5.97 10 Mitochondrion;Cytoplasm;Cytosol NA 0 PE1 -NX_Q96FC9 108313 970 7.07 12 Nucleolus;Nucleus;Centrosome;Midbody;Spindle pole;Chromosome Warsaw breakage syndrome 0 PE1 -NX_Q96FE5 69876 620 8.86 15 Cell membrane;Cell membrane NA 1 PE1 -NX_Q96FE7 28248 263 4.92 22 Cell membrane NA 1 PE1 -NX_Q96FF7 24028 219 10.92 19 NA NA 0 PE1 -NX_Q96FF9 27601 252 9.65 11 Chromosome;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q96FG2 43046 381 8.11 2 Nucleoplasm;Stereocilium;Cytoskeleton;Mitochondrion;Kinocilium Deafness, autosomal recessive, 88 0 PE1 -NX_Q96FH0 13403 119 5.54 19 Cytoplasmic vesicle;Nucleoplasm;Lysosome membrane NA 0 PE1 -NX_Q96FI4 43684 390 9.94 15 Nucleoplasm;Centrosome;Nucleus;Chromosome NA 0 PE1 -NX_Q96FJ0 49783 436 6.79 10 Cell membrane NA 0 PE1 -NX_Q96FJ2 10350 89 6.81 17 Cytoskeleton NA 0 PE1 -NX_Q96FK6 43215 387 5.72 14 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q96FL8 61922 570 7.53 17 Cell membrane NA 13 PE1 -NX_Q96FL9 64321 552 7.84 2 Golgi apparatus membrane;Golgi apparatus;Nucleus NA 1 PE1 -NX_Q96FM1 36475 320 6.84 17 Cytosol;Cell membrane;Golgi apparatus membrane;Endoplasmic reticulum membrane Hyperphosphatasia with mental retardation syndrome 4 7 PE1 -NX_Q96FN4 61190 548 5.71 16 Cytosol;Mitochondrion;Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q96FN5 70660 646 9.19 9 Cytoskeleton;Mitochondrion NA 0 PE1 -NX_Q96FN9 18660 168 7.71 14 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q96FQ6 11801 103 6.28 1 Cytoplasm;Cytosol;Nucleolus;Cell membrane NA 0 PE1 -NX_Q96FQ7 10201 95 7.81 18 NA NA 0 PE5 -NX_Q96FS4 112149 1042 6.16 11 Cell membrane;Nucleolus;Nucleus;Golgi apparatus;Perinuclear region;Endomembrane system;Nucleus NA 0 PE1 -NX_Q96FT7 70105 647 8.04 2 Membrane;Golgi apparatus NA 2 PE1 -NX_Q96FT9 23529 208 4.62 14 Microtubule organizing center;Cytoskeleton;Cytoskeleton;Cilium Cranioectodermal dysplasia 3 0 PE1 -NX_Q96FV0 35340 321 4.86 17 Cytosol NA 0 PE1 -NX_Q96FV2 46597 425 5.44 17 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q96FV3 30264 270 4.96 5 Nucleoplasm;Membrane NA 4 PE2 -NX_Q96FV9 75666 657 4.92 18 Nucleus speckle;Cytoplasm;Nucleus matrix;Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_Q96FW1 31284 271 4.85 11 Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_Q96FX2 9240 82 3.94 3 Cytoplasm;Nucleus NA 0 PE1 -NX_Q96FX7 31382 289 6.89 14 Nucleus NA 0 PE1 -NX_Q96FX8 21386 193 6.68 6 Cell membrane;Desmosome NA 4 PE1 -NX_Q96FZ2 40575 354 8.43 3 Nucleus NA 0 PE1 -NX_Q96FZ5 18834 175 8.23 3 Cell membrane;Membrane NA 4 PE1 -NX_Q96FZ7 23485 201 5.28 17 Late endosome membrane;Endosome membrane;Membrane;Endomembrane system NA 0 PE1 -NX_Q96G01 110750 975 5.6 12 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q96G03 68283 612 6.28 4 Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q96G04 36915 330 5.7 16 Cytoplasm;Cytoplasm NA 0 PE1 -NX_Q96G21 33757 291 9.49 2 Nucleolus;Nucleolus NA 0 PE1 -NX_Q96G23 44876 380 9.03 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus membrane;Nucleus membrane NA 6 PE1 -NX_Q96G25 29080 268 6.92 1 Nucleus;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q96G27 29140 269 5.61 2 Cytosol NA 0 PE1 -NX_Q96G28 39447 342 4.93 2 Nucleus;Cytoplasm;Flagellum NA 0 PE1 -NX_Q96G30 23548 205 4.92 6 Cell membrane;Endoplasmic reticulum membrane Obesity 1 PE1 -NX_Q96G42 63314 594 9.25 22 NA NA 0 PE1 -NX_Q96G46 72594 650 8.4 19 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q96G61 18559 164 5.73 X Nucleus;Cytoplasm;Cytoplasm NA 0 PE1 -NX_Q96G74 60626 571 6.1 X Nucleus;Nucleolus;Cytosol NA 0 PE1 -NX_Q96G75 44414 393 6.15 5 Nucleoplasm NA 0 PE1 -NX_Q96G79 34593 324 9.77 5 Nucleoplasm;Golgi apparatus membrane NA 9 PE2 -NX_Q96G91 40345 374 9.35 19 Cell membrane NA 7 PE1 -NX_Q96G97 44392 398 5.07 11 Endoplasmic reticulum membrane Neuronopathy, distal hereditary motor, 5A;Spastic paraplegia 17, autosomal dominant;Encephalopathy, progressive, with or without lipodystrophy;Congenital generalized lipodystrophy 2 2 PE1 -NX_Q96GA3 54855 475 4.8 6 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96GA7 34674 329 6.41 12 Cytosol NA 0 PE1 -NX_Q96GC5 23935 212 9.04 11 Mitochondrion NA 0 PE1 -NX_Q96GC6 74177 653 6.3 19 Centrosome;Nucleolus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96GC9 46238 406 6.47 17 Cytoplasm;Golgi apparatus;Nucleolus;Endoplasmic reticulum;Endoplasmic reticulum;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cell membrane;Vacuole membrane;Endoplasmic reticulum NA 7 PE1 -NX_Q96GD0 31698 296 6.12 22 Cytosol;Cytoskeleton;Ruffle membrane;Lamellipodium membrane;Cell membrane NA 0 PE1 -NX_Q96GD3 73354 660 9.37 1 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96GD4 39311 344 9.36 17 Nucleoplasm;Spindle;Midbody;Centromere;Midbody;Chromosome;Nucleus NA 0 PE1 -NX_Q96GE4 95297 821 8.76 17 Centrosome;Nucleoplasm;Cytosol;Centrosome;Spindle pole NA 0 PE1 -NX_Q96GE5 74288 643 9.29 19 Nucleus NA 0 PE1 -NX_Q96GE6 21883 196 7.02 15 Nucleoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q96GE9 12257 116 9.8 9 Mitochondrion inner membrane NA 2 PE1 -NX_Q96GF1 20459 192 6.09 22 Mitochondrion outer membrane;Endoplasmic reticulum membrane NA 2 PE1 -NX_Q96GG9 30124 259 5.18 3 Nucleus;Nucleus;Cytosol NA 0 PE1 -NX_Q96GI7 19569 184 5.64 1 Nucleoplasm;Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q96GJ1 56476 504 9.04 X Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96GK7 34596 314 8.48 2 NA NA 0 PE1 -NX_Q96GL9 17641 167 5.56 1 Membrane NA 1 PE2 -NX_Q96GM1 36880 343 9.64 19 Nucleoplasm;Membrane NA 6 PE1 -NX_Q96GM5 58233 515 9.31 12 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96GM8 56548 510 6.76 1 Nucleus;Nucleolus;Nucleus speckle;Nucleoplasm Pontocerebellar hypoplasia 7 0 PE1 -NX_Q96GN5 52206 454 5.59 7 Cytosol;Nucleus;Nucleolus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96GP6 92479 870 8.89 22 Nucleus;Cytosol;Nucleoplasm;Membrane Van den Ende-Gupta syndrome 1 PE1 -NX_Q96GQ5 51018 468 6.47 16 Nucleoplasm;Cytosol;Cytoplasmic vesicle;Nucleolus;Golgi apparatus;Membrane NA 1 PE1 -NX_Q96GQ7 89835 796 9.33 20 Nucleolus;Nucleolus;Chromosome NA 0 PE1 -NX_Q96GR2 81290 724 5.73 15 Cytoplasmic vesicle;Cytoplasm;Cytoplasmic vesicle;Microsome;Endoplasmic reticulum NA 0 PE1 -NX_Q96GR4 30813 267 6.75 9 Nucleoplasm;Membrane NA 4 PE1 -NX_Q96GS4 37226 357 5.56 17 Lysosome membrane;Cytosol;Centrosome NA 0 PE1 -NX_Q96GS6 33990 310 6.39 19 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q96GT9 12354 111 5.12 X NA NA 0 PE1 -NX_Q96GU1 14046 130 4.27 X Mitochondrion NA 0 PE1 -NX_Q96GV9 23083 206 9.51 5 Cilium;Mitochondrion;Nucleus;Cytoplasm NA 0 PE1 -NX_Q96GW7 99118 911 4.57 1 Membrane;Extracellular matrix NA 0 PE1 -NX_Q96GW9 66591 593 8.38 2 Cytosol;Mitochondrion matrix;Cytoskeleton Combined oxidative phosphorylation deficiency 25;Spastic ataxia 3, autosomal recessive 0 PE1 -NX_Q96GX1 76871 697 5.09 12 Golgi apparatus;Cytoplasmic vesicle;Membrane;Cilium basal body Meckel syndrome 8;Joubert syndrome 24 1 PE1 -NX_Q96GX2 10771 97 4.27 12 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q96GX5 97319 879 5.67 10 Centrosome;Nucleus;Cleavage furrow;Nucleoplasm NA 0 PE1 -NX_Q96GX8 8118 76 4.13 16 Cell membrane;Centrosome NA 0 PE1 -NX_Q96GX9 27125 242 6.7 11 Cytoplasm;Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_Q96GY0 35092 325 9.86 8 Cytoskeleton;Cytosol NA 0 PE1 -NX_Q96GY3 28383 246 8.93 19 Nucleoplasm NA 0 PE1 -NX_Q96GZ6 54767 507 7.97 3 Endoplasmic reticulum;Cell membrane;Cell membrane NA 10 PE1 -NX_Q96H12 32363 275 8.58 9 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q96H15 41578 378 5.75 5 Membrane;Cell membrane;Cytosol NA 1 PE1 -NX_Q96H20 28864 258 6.2 17 Nucleoplasm;Cytoplasm;Endosome membrane;Nucleus;Late endosome membrane;Cytosol NA 0 PE1 -NX_Q96H22 39555 339 9.18 16 Nucleus;Nucleus;Kinetochore NA 0 PE1 -NX_Q96H35 21649 190 9.46 9 Midbody;Nucleus;Nucleolus NA 0 PE1 -NX_Q96H40 53631 463 9.27 19 Nucleus NA 0 PE1 -NX_Q96H55 109135 970 7.87 17 Cytosol;Cytoskeleton;Mitochondrion outer membrane NA 0 PE1 -NX_Q96H72 39011 371 5.21 11 Cytosol;Golgi apparatus membrane Ehlers-Danlos syndrome-like spondylocheirodysplasia 8 PE1 -NX_Q96H78 35392 314 9.64 1 Mitochondrion;Mitochondrion inner membrane;Nucleus NA 6 PE1 -NX_Q96H79 32962 300 8.5 7 Cytosol NA 0 PE1 -NX_Q96H86 44943 408 9.19 16 Cytosol;Nucleus NA 0 PE1 -NX_Q96H96 40489 371 9.27 4 Mitochondrion inner membrane;Cytosol Coenzyme Q10 deficiency, primary, 1;Multiple system atrophy 1 9 PE1 -NX_Q96HA1 127720 1249 10.58 7 Nuclear pore complex;Nucleus membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q96HA4 40283 380 10.07 1 Cytosol;Membrane;Nucleolus NA 1 PE1 -NX_Q96HA7 150929 1378 5.99 8 Nucleus;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96HA8 23680 205 5.46 8 Nucleoplasm;Nucleus;Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_Q96HA9 26636 241 9.35 19 Peroxisome membrane NA 2 PE1 -NX_Q96HB5 67567 630 9.51 X Cytoplasm;Cell projection;Growth cone;Mitochondrion;Endosome NA 0 PE1 -NX_Q96HC4 63945 596 8.55 4 Nucleoplasm;Focal adhesion;Synaptosome;Cell membrane;Postsynaptic density;Cytoplasm NA 0 PE1 -NX_Q96HD1 45440 420 4.81 3 Golgi apparatus;Endoplasmic reticulum;Membrane;Nucleolus;Cytosol Atrioventricular septal defect 2 2 PE1 -NX_Q96HD9 35241 319 5.57 11 Apical cell membrane;Cytoplasm NA 0 PE1 -NX_Q96HE7 54393 468 5.48 14 Endoplasmic reticulum membrane NA 0 PE1 -NX_Q96HE8 18160 168 9.83 11 Membrane;Golgi apparatus;Cilium NA 4 PE2 -NX_Q96HE9 40085 360 10.13 17 Endoplasmic reticulum;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96HF1 33490 295 7.41 4 Secreted NA 0 PE1 -NX_Q96HG1 9236 83 10.36 X Membrane NA 1 PE1 -NX_Q96HH4 33611 297 4.76 2 Focal adhesion;Membrane NA 2 PE2 -NX_Q96HH6 36392 336 8.73 12 Membrane NA 6 PE1 -NX_Q96HH9 47869 432 8 5 Golgi apparatus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96HI0 86693 755 9.3 3 Nucleolus NA 0 PE1 -NX_Q96HJ3 43225 373 7.06 11 Nucleus membrane;Nucleolus NA 0 PE1 -NX_Q96HJ5 22933 214 5.18 11 Endomembrane system;Perinuclear region NA 4 PE1 -NX_Q96HJ9 12749 113 10.08 7 Mitochondrion NA 0 PE1 -NX_Q96HL8 37148 342 9.18 2 Nucleus NA 0 PE1 -NX_Q96HM7 49727 432 9.58 12 Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q96HN2 66721 611 7.13 7 Cytosol;Cytoplasm;Microsome;Nucleoplasm NA 0 PE1 -NX_Q96HP0 229558 2047 6.28 19 Cytosol;Cytoplasm;Perinuclear region Adams-Oliver syndrome 2 0 PE1 -NX_Q96HP4 34854 312 8.68 3 Nucleus NA 0 PE1 -NX_Q96HP8 26116 235 8.83 7 Mitochondrion;Membrane NA 4 PE1 -NX_Q96HQ0 58564 510 9.22 19 Nucleus NA 0 PE1 -NX_Q96HQ2 13196 116 4.87 5 NA NA 0 PE1 -NX_Q96HR3 20277 178 8.45 8 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96HR8 53717 494 4.76 4 Cytosol;Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q96HR9 23418 211 8.74 19 Endoplasmic reticulum membrane;Endoplasmic reticulum Retinitis pigmentosa 77 2 PE1 -NX_Q96HS1 32004 289 8.88 12 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_Q96HT8 14808 127 4.46 4 NA NA 0 PE1 -NX_Q96HU1 85354 749 5.66 22 Golgi apparatus;Cytoplasm NA 0 PE1 -NX_Q96HU8 22485 199 8.98 9 Cell membrane NA 0 PE1 -NX_Q96HV5 29665 264 9.23 3 Nucleoplasm;Golgi apparatus;Membrane;Cytosol NA 5 PE1 -NX_Q96HW7 108171 963 6 11 Nucleolus;Nucleus NA 0 PE1 -NX_Q96HY6 35611 314 5.12 20 Endoplasmic reticulum;Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_Q96HY7 103077 919 6.46 10 Mitochondrion;Mitochondrion 2-aminoadipic 2-oxoadipic aciduria;Charcot-Marie-Tooth disease 2Q 0 PE1 -NX_Q96HZ4 24129 224 5.18 2 Nucleolus;Nucleus;Nucleus;Nucleus;Cytosol NA 0 PE2 -NX_Q96HZ7 6513 61 12.37 21 NA NA 0 PE5 -NX_Q96I13 47331 439 6.54 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96I15 48149 445 6.63 2 Golgi apparatus;Cytosol NA 0 PE1 -NX_Q96I23 12655 114 9.45 4 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q96I24 61640 572 8.6 9 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96I25 44962 401 5.76 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96I27 34746 306 9.21 19 Mitochondrion;Nucleus;Nucleus NA 0 PE1 -NX_Q96I34 57811 528 5.68 8 Cell membrane;Cell membrane NA 0 PE1 -NX_Q96I36 6600 57 9.58 12 Mitochondrion;Mitochondrion membrane NA 1 PE1 -NX_Q96I45 11875 108 8.69 9 Mitochondrion;Membrane;Cell junction NA 2 PE1 -NX_Q96I51 49997 464 8.74 7 Mitochondrion;Cytosol;Nucleus NA 0 PE1 -NX_Q96I59 54090 477 6.79 11 Mitochondrion;Mitochondrion;Mitochondrion matrix;Nucleoplasm;Cytosol Leigh syndrome;Combined oxidative phosphorylation deficiency 24 0 PE1 -NX_Q96I76 59338 525 4.93 1 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q96I82 32945 304 4.67 10 Extracellular matrix NA 0 PE1 -NX_Q96I85 5742 54 4.96 14 Secreted NA 0 PE3 -NX_Q96I99 46511 432 6.15 3 Cell membrane;Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q96IC2 86886 774 8.64 16 Nucleus;Endoplasmic reticulum;Nucleolus;Nucleus membrane NA 0 PE1 -NX_Q96ID5 51835 467 6.48 1 Secreted NA 0 PE1 -NX_Q96IF1 56934 538 6.86 14 Cytoskeleton;Cell membrane;Cell junction;P-body;Centrosome;Nucleus;Golgi apparatus;Nucleus NA 0 PE1 -NX_Q96IG2 48423 436 7.65 17 Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q96II8 86083 777 6.25 3 Cytosol;Secreted NA 0 PE1 -NX_Q96IJ6 46291 420 6.73 2 Cytoplasm;Nucleoplasm Alacrima, achalasia, and mental retardation syndrome 0 PE1 -NX_Q96IK0 28795 257 9.62 17 Cell membrane;Nucleoplasm;Membrane NA 8 PE1 -NX_Q96IK1 19196 185 5.89 5 Centrosome;Kinetochore NA 0 PE1 -NX_Q96IK5 58685 515 7.42 2 Nucleus matrix NA 0 PE1 -NX_Q96IL0 24153 206 9.99 14 Mitochondrion NA 0 PE1 -NX_Q96IM9 20586 177 5.46 10 NA NA 0 PE1 -NX_Q96IP4 49666 442 5.03 6 NA NA 0 PE1 -NX_Q96IQ7 34348 327 7.5 11 Nucleoplasm;Membrane NA 1 PE1 -NX_Q96IQ9 32782 312 8.02 19 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q96IR2 113133 970 9.47 19 Nucleus NA 0 PE1 -NX_Q96IR3 4679 41 5.05 22 NA NA 0 PE5 -NX_Q96IR7 39386 371 6.55 1 Mitochondrion NA 0 PE1 -NX_Q96IS3 20086 184 9.45 19 Nucleus Cone-rod dystrophy 11;Macular degeneration, age-related, 6 0 PE1 -NX_Q96IT1 66908 587 5.48 1 Golgi apparatus;Nucleus NA 0 PE1 -NX_Q96IT6 6106 56 10.42 14 NA NA 0 PE5 -NX_Q96IU2 25132 234 8.65 5 Nucleoplasm;Cell membrane;Cytoplasm;Membrane NA 0 PE1 -NX_Q96IU4 22346 210 5.94 3 Cytosol;Nucleus;Nucleus;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q96IV0 74390 654 6.47 3 Cytoplasm Congenital disorder of deglycosylation 0 PE1 -NX_Q96IV6 39002 333 9.01 5 Membrane NA 5 PE2 -NX_Q96IW2 38264 340 4.88 19 Cytosol;Microtubule organizing center NA 0 PE1 -NX_Q96IW7 34948 307 8.57 3 Endoplasmic reticulum membrane NA 4 PE1 -NX_Q96IX5 6458 58 9.78 10 Mitochondrion membrane;Mitochondrion NA 1 PE1 -NX_Q96IX9 14172 119 9.1 1 NA NA 0 PE5 -NX_Q96IY1 32162 281 6.35 1 Nucleus;Kinetochore;Nucleoplasm;Cytosol;Nucleus speckle NA 0 PE1 -NX_Q96IY4 48424 423 7.61 13 Secreted NA 0 PE1 -NX_Q96IZ0 36568 340 5.35 12 Cytoplasm;Cytoplasm;Cell membrane;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q96IZ2 26842 230 9.74 6 Nucleolus;Cell membrane NA 6 PE1 -NX_Q96IZ5 47100 413 8.85 X Cytoplasm;Nucleus speckle;Cytosol NA 0 PE1 -NX_Q96IZ6 43537 378 5.69 17 NA NA 0 PE1 -NX_Q96IZ7 38677 334 11.08 3 Nucleus;Nucleus speckle;Cytoplasm;Nucleus speckle NA 0 PE1 -NX_Q96J01 38772 351 5.7 5 Nucleus speckle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96J02 102803 903 5.94 20 Nucleoplasm;Cell membrane;Early endosome membrane;Endosome membrane;Nucleus;Cytoplasm Autoimmune disease, multisystem, with facial dysmorphism 0 PE1 -NX_Q96J42 39885 360 4.77 5 Golgi apparatus;Membrane NA 1 PE1 -NX_Q96J65 152297 1359 8.64 16 Membrane NA 10 PE1 -NX_Q96J66 154301 1382 8.39 16 Cytoplasmic vesicle membrane;Cell membrane;Vacuole membrane NA 10 PE1 -NX_Q96J77 15503 140 9.96 9 NA NA 0 PE1 -NX_Q96J84 83536 757 5.49 1 Cell membrane NA 1 PE1 -NX_Q96J86 16626 154 8.28 21 Nucleoplasm;Membrane NA 1 PE2 -NX_Q96J87 50477 481 8.87 15 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96J88 36793 318 9.9 13 Cytosol NA 0 PE1 -NX_Q96J92 134739 1243 5.36 17 Tight junction Pseudohypoaldosteronism 2B 0 PE1 -NX_Q96J94 98603 861 9.5 12 Cytoplasm NA 0 PE1 -NX_Q96JA1 119113 1093 6.66 3 Cytosol;Cell membrane NA 1 PE1 -NX_Q96JA3 58261 519 5.03 7 Membrane;trans-Golgi network membrane NA 0 PE1 -NX_Q96JA4 76580 679 5.39 11 Membrane NA 4 PE2 -NX_Q96JB1 514664 4490 5.95 6 Cilium axoneme NA 0 PE1 -NX_Q96JB2 94096 828 5.39 13 Golgi stack membrane NA 0 PE1 -NX_Q96JB3 66156 615 5.95 22 Nucleus;Nucleus NA 0 PE1 -NX_Q96JB5 56921 506 4.68 17 Cytosol;Nucleus;Cytoplasm;Centrosome NA 0 PE1 -NX_Q96JB6 84483 756 7.32 10 Cytoplasmic vesicle;Extracellular space NA 0 PE1 -NX_Q96JB8 72779 637 5.4 2 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q96JC1 101809 886 6.53 15 Cytoplasm;Cytoplasm;Lysosome membrane;Late endosome membrane;Late endosome;Lysosome NA 0 PE1 -NX_Q96JC4 60598 524 9.21 7 Nucleus NA 0 PE2 -NX_Q96JC9 29042 268 5.24 3 Cytoplasmic vesicle;Nucleoplasm;Nucleus speckle;Cajal body;Nucleus NA 0 PE1 -NX_Q96JD6 36589 320 7.19 10 Nucleoplasm;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q96JE7 116604 1060 5.71 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cytoskeleton;Endoplasmic reticulum;Cell membrane NA 0 PE1 -NX_Q96JE9 86505 813 9.2 11 Cell membrane;Cytoskeleton;Golgi apparatus NA 0 PE1 -NX_Q96JF0 60158 529 9.77 2 Golgi stack membrane;Nucleolus;Nucleus NA 1 PE1 -NX_Q96JF6 93907 807 9.01 17 Nucleus;Nucleus NA 0 PE1 -NX_Q96JG6 111174 964 5.85 7 Cell membrane;Cytosol;Recycling endosome NA 0 PE1 -NX_Q96JG8 81378 741 6.34 X NA NA 0 PE1 -NX_Q96JG9 410202 3925 7.88 16 Cytoplasmic vesicle;Nucleus Brittle cornea syndrome 1 0 PE1 -NX_Q96JH7 134321 1222 6.77 8 Cytoplasm;Endoplasmic reticulum;Golgi stack;Cell membrane NA 0 PE1 -NX_Q96JH8 117455 1075 6.67 7 Nucleus;Nucleus membrane NA 0 PE1 -NX_Q96JI7 278868 2443 5.63 15 Cytosol;Cytosol;Nucleolus;Nucleus;Axon;Dendrite;Cell membrane Amyotrophic lateral sclerosis 5, juvenile;Spastic paraplegia 11, autosomal recessive;Charcot-Marie-Tooth disease 2X 0 PE1 -NX_Q96JJ3 82615 720 5.62 20 Cytosol;Cytoplasm;Cytosol;Membrane Vascular malformation, primary intraosseous 0 PE1 -NX_Q96JJ6 65861 628 6.39 14 Nucleoplasm;Golgi apparatus;Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 -NX_Q96JJ7 51872 454 4.8 18 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q96JK2 103963 942 5.48 14 Mitochondrion NA 0 PE1 -NX_Q96JK4 86731 782 7.69 14 Secreted NA 0 PE1 -NX_Q96JK9 122293 1138 7.12 4 Nucleus speckle;Nucleus speckle NA 0 PE1 -NX_Q96JL9 75544 665 8.27 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96JM2 284688 2506 7.53 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96JM3 89099 812 8.7 13 Nucleus;Nucleoplasm;Spindle;Nucleus;Chromosome;Kinetochore Mental retardation, autosomal dominant 40 0 PE1 -NX_Q96JM4 199300 1722 5.85 12 NA NA 0 PE2 -NX_Q96JM7 88337 780 6.02 6 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q96JN0 47007 433 9.39 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96JN2 134045 1154 4.63 7 Acrosome membrane;Nucleolus NA 1 PE1 -NX_Q96JN8 166907 1562 5.57 17 Centriole NA 0 PE1 -NX_Q96JP0 68673 617 7.6 5 Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_Q96JP2 167118 1530 8.69 17 Cytoplasm NA 0 PE1 -NX_Q96JP5 63445 570 7.02 11 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q96JP9 93595 859 5.34 10 Cell membrane Cone-rod dystrophy 15 1 PE1 -NX_Q96JQ0 346181 3298 4.79 11 Cell membrane;Cell membrane Van Maldergem syndrome 1;Mitral valve prolapse 2 1 PE1 -NX_Q96JQ2 111651 1002 4.84 14 Nucleus;Cytosol;Membrane NA 1 PE1 -NX_Q96JQ5 25441 239 7.63 11 Membrane NA 4 PE1 -NX_Q96JS3 92515 809 5.45 6 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q96JT2 59323 553 7.44 1 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 11 PE1 -NX_Q96JW4 62473 573 5.69 12 Endoplasmic reticulum;Cell membrane NA 11 PE1 -NX_Q96JX3 74147 654 7.59 6 Membrane;Endoplasmic reticulum;Mitochondrion 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 PE1 -NX_Q96JY0 49219 434 8.94 1 Nucleus;Cytoplasm NA 0 PE1 -NX_Q96JY6 37459 352 9 8 Cytoplasm;Nucleus;Cytoskeleton;Focal adhesion;Cytoskeleton NA 0 PE1 -NX_Q96JZ2 39002 352 6.64 19 Cytosol;Cytoplasm;Nucleus;Cell membrane;Focal adhesion NA 0 PE1 -NX_Q96K12 59438 515 9.44 12 Peroxisome membrane;Nucleolus;Golgi apparatus NA 1 PE1 -NX_Q96K17 17271 158 5.95 1 Cytosol;Nucleus NA 0 PE1 -NX_Q96K19 29815 258 5.34 8 Endoplasmic reticulum;Endoplasmic reticulum membrane Ataxia, sensory, 1, autosomal dominant 3 PE1 -NX_Q96K21 51546 471 5.57 15 Midbody ring;Centrosome;Cleavage furrow NA 0 PE1 -NX_Q96K30 28619 269 11.07 12 Nucleus;Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_Q96K31 43273 380 5.31 8 NA NA 0 PE1 -NX_Q96K37 44773 410 9.82 19 Golgi apparatus;Membrane NA 9 PE1 -NX_Q96K49 63536 555 7.16 2 Golgi apparatus membrane;Golgi apparatus;Cytoplasmic vesicle NA 7 PE1 -NX_Q96K58 67890 619 9.2 16 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q96K62 54008 511 6.44 19 Cytosol;Nucleus NA 0 PE1 -NX_Q96K75 45938 400 9.13 2 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96K76 157311 1375 4.97 11 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q96K78 88909 797 8.77 3 Membrane NA 7 PE1 -NX_Q96K80 46052 434 7.58 12 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q96K83 147866 1311 6.56 18 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96KA5 62229 538 8.71 5 Endoplasmic reticulum;Membrane NA 6 PE1 -NX_Q96KB5 36085 322 4.98 8 Cytosol NA 0 PE1 -NX_Q96KC2 20375 179 6.06 10 NA NA 0 PE1 -NX_Q96KC8 63883 554 8.77 10 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus membrane;Microsome membrane NA 1 PE1 -NX_Q96KC9 43003 395 4.07 4 Cytoplasm;Mitochondrion;Flagellum NA 0 PE1 -NX_Q96KD3 38946 344 9.51 7 Cytosol NA 0 PE2 -NX_Q96KE9 53411 485 5.87 14 Nucleoplasm;P-body NA 0 PE1 -NX_Q96KF2 5959 57 9.9 17 Nucleus NA 0 PE2 -NX_Q96KF7 11059 97 9.3 6 Membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q96KG7 122205 1140 6.5 5 Cell membrane;Phagocytic cup Myopathy, early-onset, areflexia, respiratory distress, and dysphagia 1 PE1 -NX_Q96KG9 89631 808 5.93 11 cis-Golgi network;Cytoplasm;Cytosol;Centrosome;Endoplasmic reticulum-Golgi intermediate compartment;Nucleus Spinocerebellar ataxia, autosomal recessive, 21 0 PE1 -NX_Q96KH6 19680 178 6.12 18 NA NA 0 PE2 -NX_Q96KJ4 74540 702 6.71 16 Membrane NA 1 PE3 -NX_Q96KJ9 20010 171 9.65 20 Mitochondrion inner membrane Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis 0 PE1 -NX_Q96KK3 58372 526 6.71 20 Cell membrane NA 6 PE1 -NX_Q96KK4 34384 312 8.64 6 Cell membrane NA 7 PE2 -NX_Q96KK5 13906 128 10.88 6 Nucleus;Chromosome NA 0 PE1 -NX_Q96KM6 97264 892 9.87 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96KN1 34474 310 5.34 8 Nucleoplasm NA 0 PE1 -NX_Q96KN2 56706 507 5.14 18 Secreted NA 0 PE1 -NX_Q96KN3 52028 472 4.76 11 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96KN4 32491 292 5.46 2 Nucleus NA 0 PE1 -NX_Q96KN7 146682 1286 5.47 14 Cilium Cone-rod dystrophy 13;Leber congenital amaurosis 6 0 PE1 -NX_Q96KN8 30312 279 8.33 11 NA NA 0 PE1 -NX_Q96KN9 40140 370 9.26 10 Cell membrane;Gap junction NA 4 PE2 -NX_Q96KP1 104066 924 6.46 6 Midbody ring;Cytoplasmic vesicle NA 0 PE1 -NX_Q96KP4 52878 475 5.66 18 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q96KP6 38943 325 7.56 4 NA NA 0 PE1 -NX_Q96KQ4 119565 1090 6.33 14 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96KQ7 132370 1210 5.3 6 Nucleoplasm;Chromosome;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q96KR1 117012 1074 9.17 5 Nucleus;Nucleoplasm;Nucleus;Cytoplasm;Cytoplasmic granule;Chromosome NA 0 PE1 -NX_Q96KR4 73568 655 6.5 3 Cytosol;Focal adhesion;Cytoplasm;Lipid droplet NA 0 PE1 -NX_Q96KR6 20424 192 10.45 20 Cell membrane;Mitochondrion outer membrane;Cytosol;Mitochondrion NA 2 PE1 -NX_Q96KR7 62552 559 9.27 20 Nucleoplasm;Nucleus matrix NA 0 PE1 -NX_Q96KS0 43650 407 8.18 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96KS9 24182 214 5.93 8 Endoplasmic reticulum NA 0 PE1 -NX_Q96KT0 11632 104 9.8 8 NA NA 0 PE4 -NX_Q96KT6 9816 92 8.81 8 NA NA 0 PE5 -NX_Q96KT7 35161 338 6.68 8 Membrane NA 9 PE2 -NX_Q96KV6 65713 586 5.48 6 Membrane NA 1 PE5 -NX_Q96KV7 187437 1748 6.56 16 Nucleus speckle NA 0 PE1 -NX_Q96KW2 109912 1035 9.92 6 NA NA 0 PE2 -NX_Q96KW9 21466 195 4.71 13 Secreted;Acrosome;Acrosome lumen NA 0 PE1 -NX_Q96KX0 16433 146 8.6 3 Secreted;Acrosome;Flagellum NA 0 PE1 -NX_Q96KX1 13276 117 9.54 4 Focal adhesion;Cytosol NA 0 PE2 -NX_Q96KX2 35025 299 7.61 12 NA NA 0 PE1 -NX_Q96L03 43499 361 9.87 1 Cytoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_Q96L08 27119 255 10.24 9 Cell membrane;Nucleus NA 1 PE1 -NX_Q96L11 13527 122 5.89 7 Secreted NA 0 PE2 -NX_Q96L12 44996 384 6.19 19 Endoplasmic reticulum lumen Cardiomyopathy, familial hypertrophic 19 0 PE1 -NX_Q96L14 32648 293 5.45 4 NA NA 0 PE5 -NX_Q96L15 32054 291 8.52 11 Secreted NA 0 PE1 -NX_Q96L21 24519 214 10.03 14 Nucleus NA 0 PE1 -NX_Q96L33 26217 236 8.36 15 Cell membrane;Endosome membrane NA 0 PE1 -NX_Q96L34 82520 752 9.7 19 Microtubule organizing center;Cilium basal body;Centrosome;Cilium axoneme;Cytoplasm;Cytosol NA 0 PE1 -NX_Q96L42 123804 1107 6.46 3 Membrane NA 6 PE2 -NX_Q96L46 27660 248 5.51 16 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q96L50 46723 414 9.27 14 Nucleus membrane;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q96L58 37138 329 9.72 1 Golgi stack membrane Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures;Ehlers-Danlos syndrome, progeroid type, 2 1 PE1 -NX_Q96L73 296652 2696 8.4 5 Cell membrane;Nucleus;Nucleus;Chromosome Beckwith-Wiedemann syndrome;Sotos syndrome 1 0 PE1 -NX_Q96L91 343489 3159 9.27 12 Nucleus;Nucleus NA 0 PE1 -NX_Q96L92 61265 541 6.06 1 Nucleoplasm;Cytosol;Early endosome membrane;Cytosol NA 0 PE1 -NX_Q96L93 152011 1317 5.86 20 Mitochondrion;Cytoskeleton;Early endosome membrane NA 0 PE1 -NX_Q96L94 22068 193 9.6 15 Nucleoplasm;Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q96L96 201272 1907 7.73 15 Nucleus;Nucleus NA 0 PE1 -NX_Q96LA5 55542 508 5.98 1 Cell membrane NA 1 PE1 -NX_Q96LA6 46936 429 5.32 1 Cell membrane NA 1 PE1 -NX_Q96LA8 41938 375 5.32 1 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q96LA9 36461 322 9 11 Cell membrane NA 7 PE2 -NX_Q96LB0 36483 322 8.79 11 Cell membrane NA 7 PE2 -NX_Q96LB1 37099 330 8.36 11 Cell membrane NA 7 PE1 -NX_Q96LB2 36250 322 7.5 11 Cell membrane NA 7 PE1 -NX_Q96LB3 69239 600 5.73 9 Golgi apparatus;Cilium;Cytoplasmic vesicle Bardet-Biedl syndrome 20 0 PE1 -NX_Q96LB4 13917 118 9.16 1 NA NA 0 PE1 -NX_Q96LB8 40620 373 7.2 1 Secreted;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q96LB9 37611 341 6.48 1 Secreted NA 0 PE1 -NX_Q96LC7 76592 697 8.69 19 Cytoskeleton;Cell membrane;Cell membrane;Secreted;Cytosol NA 1 PE1 -NX_Q96LC9 20508 184 4.91 15 Nucleoplasm NA 0 PE1 -NX_Q96LD1 32949 299 7.59 8 Cytoskeleton;Sarcolemma NA 1 PE2 -NX_Q96LD4 69532 638 6.03 17 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96LD8 24107 212 5.6 15 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q96LI5 63001 555 6.26 4 Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q96LI6 45107 401 6.68 Y Nucleus;Cytoplasm NA 0 PE1 -NX_Q96LI9 38899 332 10.19 X NA NA 0 PE2 -NX_Q96LJ7 33909 313 8.01 14 Endoplasmic reticulum;Nucleus;Centrosome;Cytosol NA 0 PE1 -NX_Q96LJ8 30811 280 8.87 1 Cilium;Nucleoplasm;Cell membrane;Cell junction NA 0 PE1 -NX_Q96LK0 19166 163 5.24 3 Centrosome;Spindle pole;Centriole;Cilium basal body Morbid obesity and spermatogenic failure 0 PE1 -NX_Q96LK8 42325 384 4.7 17 NA NA 0 PE1 -NX_Q96LL3 14383 132 9.23 16 Membrane NA 1 PE2 -NX_Q96LL4 36790 319 8.84 8 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q96LL9 25961 226 10.49 7 NA NA 0 PE1 -NX_Q96LM1 14531 132 9.93 12 NA NA 0 PE5 -NX_Q96LM5 21723 186 9.97 4 NA NA 0 PE1 -NX_Q96LM6 20615 180 7.14 2 Cytoplasm;Nucleus NA 0 PE1 -NX_Q96LM9 16552 149 6.25 20 NA NA 0 PE2 -NX_Q96LP2 52032 452 9.15 5 NA NA 0 PE1 -NX_Q96LP6 39738 360 9.69 12 NA NA 0 PE2 -NX_Q96LQ0 49440 422 9.41 14 NA NA 0 PE1 -NX_Q96LR2 25806 239 4.74 1 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q96LR4 15682 140 9.24 3 Secreted NA 0 PE1 -NX_Q96LR5 22255 201 7.59 3 Nucleoplasm NA 0 PE1 -NX_Q96LR7 17838 162 9.51 2 NA NA 0 PE1 -NX_Q96LR9 30546 279 10.45 12 Nucleoplasm;Cell membrane;Cytosol NA 3 PE2 -NX_Q96LS8 17367 159 9.49 2 NA NA 0 PE2 -NX_Q96LT4 48321 415 8.35 10 Endoplasmic reticulum;Endoplasmic reticulum membrane NA 6 PE1 -NX_Q96LT6 29561 269 5.41 1 Cytosol;Cell membrane NA 0 PE2 -NX_Q96LT7 54328 481 5.82 9 Nucleus;Cytoplasm;Endosome;Lysosome;Autophagosome;Secreted Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 0 PE1 -NX_Q96LT9 58575 517 7.61 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96LU5 18504 166 8.29 11 Mitochondrion inner membrane NA 0 PE1 -NX_Q96LU7 101670 910 6.4 12 Membrane;Nucleolus NA 1 PE2 -NX_Q96LW1 70529 612 9.6 5 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96LW2 31044 274 9.12 17 Cell membrane;Cytoplasmic vesicle;Nucleoplasm NA 0 PE2 -NX_Q96LW4 64383 560 5.15 4 Nucleus;Cytoplasm;Cytosol;Nucleoplasm;Nucleus;Mitochondrion matrix Myopia 22, autosomal dominant 0 PE1 -NX_Q96LW7 25589 228 9.43 9 Nucleus;Mitochondrion;Nucleus;Endoplasmic reticulum membrane;Mitochondrion membrane NA 0 PE1 -NX_Q96LW9 47293 406 6.42 6 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q96LX7 67721 622 6.76 1 NA NA 0 PE1 -NX_Q96LX8 48076 424 6.29 16 Nucleus;Cytosol;Nucleus;Nucleolus NA 0 PE1 -NX_Q96LY2 41826 380 10.46 2 NA NA 0 PE2 -NX_Q96LZ2 38971 347 5.74 X NA NA 0 PE1 -NX_Q96LZ3 19533 170 4.73 9 NA NA 0 PE1 -NX_Q96LZ7 47399 410 6.12 2 Spindle pole;Cytoplasm;Spindle;Membrane;Cytosol NA 1 PE1 -NX_Q96M02 77910 699 9.21 10 Cytoplasm;Nucleoplasm;Cell membrane;Cytosol;Centrosome NA 0 PE1 -NX_Q96M11 34359 299 6.98 11 Cytosol;Cytoplasm;Cell membrane;Cilium;Centriole Hydrolethalus syndrome 1 0 PE1 -NX_Q96M15 15995 143 9.42 3 NA NA 0 PE2 -NX_Q96M19 18185 166 10.52 12 Membrane NA 3 PE5 -NX_Q96M20 67512 576 9.33 20 Cytosol NA 0 PE1 -NX_Q96M27 46701 445 5.56 5 Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q96M29 56294 485 6.8 16 Flagellum;Cytoskeleton NA 0 PE1 -NX_Q96M32 82658 723 4.67 14 Cytosol NA 0 PE1 -NX_Q96M34 60162 536 5.51 3 NA NA 0 PE1 -NX_Q96M42 15208 142 8.28 21 NA NA 0 PE5 -NX_Q96M43 72053 638 4.83 1 Cytoplasm NA 0 PE2 -NX_Q96M53 39460 351 9.21 10 Cytosol NA 0 PE2 -NX_Q96M60 59956 508 9 15 Nucleus speckle NA 0 PE2 -NX_Q96M61 38533 343 6.81 X Cytoplasm NA 0 PE1 -NX_Q96M63 75046 670 5.87 19 Cilium Ciliary dyskinesia, primary, 20 0 PE1 -NX_Q96M66 20693 194 9.73 16 NA NA 0 PE2 -NX_Q96M69 93618 825 6 7 Acrosome;Cytoskeleton;Cilium basal body NA 0 PE1 -NX_Q96M78 15528 137 6.44 8 NA NA 0 PE2 -NX_Q96M83 157448 1385 7.16 10 Cytosol;Nucleolus NA 0 PE1 -NX_Q96M85 19601 177 9.71 22 NA NA 0 PE2 -NX_Q96M86 533644 4753 6.25 11 Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q96M89 76219 665 8.75 2 Cytosol;Nucleus NA 0 PE1 -NX_Q96M91 61835 514 9 18 Midbody;Cilium Heterotaxy, visceral, 6, autosomal 0 PE1 -NX_Q96M93 64411 576 9.14 4 Nucleus NA 0 PE1 -NX_Q96M94 69775 604 5.98 X Nucleus;Cytosol Mental retardation, X-linked 103 0 PE1 -NX_Q96M95 38019 316 9.18 17 NA NA 0 PE1 -NX_Q96M96 86626 766 5.8 12 Cytoskeleton;Filopodium;Cytoskeleton Charcot-Marie-Tooth disease 4H 0 PE1 -NX_Q96M98 33342 296 8.42 6 NA NA 0 PE1 -NX_Q96MA1 36205 342 6.6 1 Nucleus NA 0 PE1 -NX_Q96MA6 54926 479 5.77 9 Cytosol NA 0 PE1 -NX_Q96MB7 39146 349 5.28 11 Cell membrane;Nucleus;Cytoplasm;Cytosol NA 0 PE1 -NX_Q96MC2 87134 740 5.3 2 Cilium axoneme Ciliary dyskinesia, primary, 21 0 PE1 -NX_Q96MC4 69839 621 9.65 17 Cytoplasmic vesicle;Cilium NA 0 PE1 -NX_Q96MC5 23732 204 5.93 16 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96MC6 53027 490 8.63 1 Cytoplasmic vesicle;Membrane NA 12 PE1 -NX_Q96MC9 29841 270 10.45 1 NA NA 0 PE2 -NX_Q96MD2 50415 445 8.95 12 Lysosome membrane;Cytoskeleton;Spindle;Cytoskeleton NA 0 PE1 -NX_Q96MD7 20166 179 9.54 9 Nucleus;Golgi apparatus;Nucleolus NA 0 PE1 -NX_Q96ME1 88341 805 8.73 7 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q96ME7 64682 567 9.8 2 Nucleus;Nucleus NA 0 PE1 -NX_Q96MF0 14640 132 8.82 15 NA NA 0 PE5 -NX_Q96MF2 41507 364 6.5 12 Nucleoplasm;Cytosol Native American myopathy 0 PE1 -NX_Q96MF4 18252 163 10.64 2 NA NA 0 PE2 -NX_Q96MF6 27686 247 9.81 12 Endoplasmic reticulum;Cytosol;Mitochondrion inner membrane;Golgi apparatus NA 0 PE1 -NX_Q96MF7 27932 247 7.62 8 Telomere;Nucleus;Nucleus;Nucleus;PML body Seckel syndrome 10 0 PE1 -NX_Q96MG2 36319 331 9.43 19 Endoplasmic reticulum;Sarcoplasmic reticulum membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_Q96MG7 34308 304 9.3 15 Cytoplasm;Nucleus;Telomere Lung disease, immunodeficiency, and chromosome breakage syndrome 0 PE1 -NX_Q96MG8 40675 357 5.46 8 Cell membrane;Membrane;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q96MH2 32419 286 6.13 17 Nucleus speckle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96MH6 37425 324 7.72 8 Cytoplasmic vesicle;Membrane NA 2 PE1 -NX_Q96MH7 72898 638 8.16 5 NA NA 0 PE1 -NX_Q96MI6 30375 270 5.34 3 Nucleus;Nucleus NA 0 PE1 -NX_Q96MI9 120281 1066 6.85 15 Cytosol Corneal dystrophy, Fuchs endothelial, 8 0 PE1 -NX_Q96MK2 105290 946 7.26 20 Nucleoplasm NA 0 PE1 -NX_Q96MK3 61417 541 8.2 17 Secreted;Golgi apparatus;Endoplasmic reticulum Amelogenesis imperfecta 1G 0 PE1 -NX_Q96MM3 34802 310 9.12 4 Nucleus NA 0 PE1 -NX_Q96MM6 75688 686 8.81 20 NA NA 0 PE1 -NX_Q96MM7 69130 605 9.79 X Nucleoplasm;Membrane NA 1 PE1 -NX_Q96MN2 113415 994 5.54 19 NA NA 0 PE1 -NX_Q96MN5 24150 208 10.05 1 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q96MN9 36962 340 9.2 10 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96MP5 79454 696 7.27 20 Cytoplasmic vesicle;Cytosol;Nucleolus NA 0 PE1 -NX_Q96MP8 33132 289 5.58 7 Cell membrane;Cytosol Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 0 PE1 -NX_Q96MR6 144961 1250 5.61 1 Cytosol NA 0 PE1 -NX_Q96MR7 17524 158 11.82 1 NA NA 0 PE5 -NX_Q96MR9 91121 790 8.99 19 Nucleus NA 0 PE2 -NX_Q96MS0 148209 1386 6.74 11 Membrane Gaze palsy, familial horizontal, with progressive scoliosis, 1 1 PE1 -NX_Q96MS3 38507 346 6.02 12 Cytosol;Secreted NA 0 PE1 -NX_Q96MT0 16963 163 5.29 10 NA NA 0 PE2 -NX_Q96MT1 75617 663 6.39 5 Cytoplasm;Membrane;Nucleoplasm;Cell membrane;Cytosol NA 14 PE1 -NX_Q96MT3 94300 831 5.84 12 Cytosol;Nucleoplasm;Nucleus membrane Neural tube defects;Epilepsy, progressive myoclonic 1B 0 PE1 -NX_Q96MT4 13896 127 7.59 6 NA NA 0 PE1 -NX_Q96MT7 111729 982 4.75 3 Flagellum NA 0 PE1 -NX_Q96MT8 81344 703 5.78 3 Nucleoplasm;Centrosome;Centriole;Centriolar satellite Seckel syndrome 6 0 PE1 -NX_Q96MU5 26264 243 6.58 17 Secreted NA 0 PE2 -NX_Q96MU6 81964 729 8.77 16 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_Q96MU7 84700 727 5.87 4 Nucleus;Cell membrane;Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q96MU8 51744 473 6.69 22 Cell membrane;Nucleoplasm;Cytosol;Nucleus Ectodermal dysplasia 13, hair/tooth type 1 PE1 -NX_Q96MV1 30041 263 9.4 1 Membrane;Nucleus speckle NA 6 PE1 -NX_Q96MV8 39331 337 8.42 X Nucleus speckle;Cytosol;Membrane Mental retardation, X-linked 91 4 PE2 -NX_Q96MW1 25248 224 4.85 17 Cytosol NA 0 PE1 -NX_Q96MW5 68424 612 5.12 16 Golgi apparatus;Golgi apparatus membrane Congenital disorder of glycosylation 2H 0 PE1 -NX_Q96MW7 67299 591 8.53 2 Nucleus;Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q96MX0 19714 182 4.39 16 Nucleoplasm;Membrane NA 3 PE1 -NX_Q96MX3 67820 618 9.51 16 Mitochondrion;Nucleus NA 0 PE1 -NX_Q96MX6 39740 357 8.32 2 Nucleoplasm NA 0 PE1 -NX_Q96MY1 47215 436 4.92 20 Nucleoplasm NA 0 PE1 -NX_Q96MY7 73647 647 9.44 14 NA NA 0 PE1 -NX_Q96MZ0 41973 367 6.13 20 Endoplasmic reticulum NA 0 PE1 -NX_Q96MZ4 17021 157 11.82 4 NA NA 0 PE1 -NX_Q96N03 22349 204 8.75 20 NA NA 0 PE1 -NX_Q96N06 15461 139 9.27 16 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q96N11 50047 449 7.61 7 Cytoskeleton;Nucleolus;Nucleus;Cytosol NA 0 PE1 -NX_Q96N16 73209 626 5.84 4 Cytoskeleton;Membrane NA 0 PE1 -NX_Q96N19 46059 417 8.78 11 Cytoskeleton;Membrane;Nucleolus;Nucleus NA 7 PE1 -NX_Q96N20 34694 296 9.55 16 Nucleolus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96N21 55137 525 6.57 17 Golgi apparatus;Nucleus membrane;Cytoplasmic vesicle;trans-Golgi network membrane;Cytosol;Nucleus speckle NA 0 PE1 -NX_Q96N22 75059 645 9.27 19 Nucleus NA 0 PE2 -NX_Q96N23 351970 3096 8.41 12 Cilium axoneme;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q96N28 19247 172 7.02 18 Mitochondrion NA 0 PE1 -NX_Q96N35 15076 136 7.18 15 Membrane NA 1 PE5 -NX_Q96N38 63883 554 9.29 19 Nucleus NA 0 PE1 -NX_Q96N46 88319 770 8.77 3 Nucleus NA 0 PE1 -NX_Q96N53 15424 147 11.86 11 NA NA 0 PE5 -NX_Q96N58 68531 590 9.19 19 Nucleus NA 0 PE1 -NX_Q96N64 81960 755 9.09 5 Nucleus;Focal adhesion;Nucleoplasm NA 0 PE1 -NX_Q96N66 52765 472 9.16 19 Cytosol;Membrane Mental retardation, autosomal recessive 57 7 PE1 -NX_Q96N67 242561 2140 6.34 1 Axon Epileptic encephalopathy, early infantile, 23 0 PE1 -NX_Q96N68 19136 181 7.45 18 Membrane NA 1 PE5 -NX_Q96N76 74831 676 6.34 3 NA Urocanase deficiency 0 PE1 -NX_Q96N77 49528 438 5.78 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96N87 70897 628 7.03 5 Endoplasmic reticulum;Membrane NA 12 PE2 -NX_Q96N95 38612 335 8.26 18 Nucleus;Cytoplasm NA 0 PE1 -NX_Q96N96 74820 652 7.01 13 Cytosol;Filopodium;Cytoplasm;Nucleoplasm;Ruffle membrane;Lamellipodium NA 0 PE1 -NX_Q96NA2 44200 401 5.47 17 Late endosome membrane;Lysosome membrane;Phagosome membrane NA 0 PE1 -NX_Q96NA8 55949 513 9.23 8 Cell membrane;Nucleus;Membrane NA 1 PE1 -NX_Q96NB1 19778 174 6.6 16 Cilium;Centriole;Centriolar satellite;Cytoplasmic granule;Centrosome;Cilium basal body;Centrosome NA 0 PE1 -NX_Q96NB2 36232 322 9.48 10 Mitochondrion membrane;Mitochondrion NA 5 PE1 -NX_Q96NB3 41999 372 5.22 17 Nucleoplasm;Chromosome;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q96NC0 23612 199 9.08 5 Nucleus;Mitochondrion;Nucleus NA 0 PE1 -NX_Q96ND0 30777 272 9.77 18 Golgi apparatus;Nucleus;Mitochondrion;Membrane;Mitochondrion NA 1 PE1 -NX_Q96ND8 66033 569 9.07 19 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q96NE9 72044 622 7.12 14 Mitochondrion;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q96NF6 25558 230 9.67 8 Membrane NA 1 PE2 -NX_Q96NG3 76655 672 5.49 17 Cytoplasm;Cilium axoneme Ciliary dyskinesia, primary, 35 0 PE1 -NX_Q96NG5 45755 402 9.2 19 Nucleus NA 0 PE1 -NX_Q96NG8 60498 517 8.79 19 Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q96NH3 144756 1257 6.3 6 Mitochondrion;Cytoplasm;Cilium NA 0 PE1 -NX_Q96NI6 79445 719 7.26 14 Membrane NA 1 PE1 -NX_Q96NI8 62330 536 8.63 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96NJ1 14269 140 11.49 9 NA NA 0 PE2 -NX_Q96NJ3 68261 590 8.59 19 Nucleus NA 0 PE1 -NX_Q96NJ5 70362 620 5.97 6 NA NA 0 PE2 -NX_Q96NJ6 57662 502 6.99 17 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96NK8 38705 337 8.76 7 Nucleus NA 0 PE1 -NX_Q96NL0 52813 473 5.44 7 NA NA 0 PE1 -NX_Q96NL1 33338 305 5.12 8 Cytosol;Autophagosome membrane;Lysosome membrane NA 2 PE1 -NX_Q96NL3 67492 588 8.73 19 Cytosol;Nucleoplasm;Cell membrane;Nucleus NA 0 PE1 -NX_Q96NL6 80910 688 5.83 4 Cytosol;Centriole;Cytoskeleton NA 0 PE1 -NX_Q96NL8 23381 207 6.52 8 Cell membrane;Cytoplasm;Cell junction;Cytosol Retinitis pigmentosa 64;Bardet-Biedl syndrome 21;Cone-rod dystrophy 16 0 PE1 -NX_Q96NM4 51604 488 6.23 20 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96NN9 66791 605 9.2 22 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q96NR2 14382 134 11.88 20 NA NA 0 PE2 -NX_Q96NR3 101341 888 8.57 X Cell membrane Autism, X-linked 4 11 PE2 -NX_Q96NR7 21356 200 12.28 4 NA NA 0 PE5 -NX_Q96NR8 35094 316 9.73 14 NA Leber congenital amaurosis 13;Retinitis pigmentosa 53 0 PE1 -NX_Q96NS1 14301 127 8.42 11 Nucleolus NA 0 PE2 -NX_Q96NS5 49637 453 8.39 17 Focal adhesion NA 0 PE1 -NX_Q96NS8 16687 147 6.48 16 NA NA 0 PE5 -NX_Q96NT0 19761 180 6.44 2 Endosome;Lysosome;Cell membrane;Endoplasmic reticulum-Golgi intermediate compartment;COPI-coated vesicle;Endoplasmic reticulum;Cytoplasmic vesicle Congenital disorder of glycosylation 2O 0 PE1 -NX_Q96NT1 19593 182 4.12 4 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96NT3 27207 240 6.4 22 Nucleoplasm NA 0 PE1 -NX_Q96NT5 49771 459 9.03 17 Apical cell membrane;Cytoplasm;Cytosol;Cell membrane Hereditary folate malabsorption 12 PE1 -NX_Q96NU0 140468 1288 7.49 9 Membrane NA 1 PE2 -NX_Q96NU1 72708 681 7.34 1 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q96NU7 46743 426 6.14 12 Cell membrane;Cytoskeleton;Focal adhesion NA 0 PE1 -NX_Q96NW4 116984 1050 6.42 19 Endosome;Cytosol;Early endosome;Late endosome;Cytoplasmic vesicle membrane;Lysosome;Cell membrane;Melanosome NA 0 PE1 -NX_Q96NW7 172581 1537 6.37 1 Postsynaptic density;Cytoplasm NA 0 PE1 -NX_Q96NX5 53087 476 7.83 1 Cytoplasm;Golgi apparatus membrane;Cell membrane NA 0 PE1 -NX_Q96NX9 65323 599 9.22 X Nucleus NA 0 PE2 -NX_Q96NY7 73012 704 4.29 21 Cytoplasm;Cell membrane NA 1 PE1 -NX_Q96NY8 55454 510 5.23 1 Cell membrane;Secreted;Adherens junction;Cell membrane Ectodermal dysplasia-syndactyly syndrome 1 1 PE1 -NX_Q96NY9 61173 551 9.78 11 Nucleolus;Nucleus;Nucleolus NA 0 PE1 -NX_Q96NZ1 55215 517 5.93 12 Nucleus;Cytosol;Mitochondrion;Nucleus NA 0 PE1 -NX_Q96NZ8 58798 548 5.84 16 Secreted NA 0 PE1 -NX_Q96NZ9 17208 151 5.2 10 Cell membrane;Nucleoplasm;Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_Q96P09 27089 236 6.99 19 Cytoplasm NA 0 PE1 -NX_Q96P11 46692 429 8.91 7 NA NA 0 PE1 -NX_Q96P15 44099 392 8.42 18 Cytoplasm NA 0 PE2 -NX_Q96P16 35720 312 7.13 18 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q96P20 118173 1036 6.22 1 Cytosol;Inflammasome;Endoplasmic reticulum;Secreted;Nucleus Muckle-Wells syndrome;Chronic infantile neurologic cutaneous and articular syndrome;Familial cold autoinflammatory syndrome 1 0 PE1 -NX_Q96P26 68804 610 9.03 2 Cytoplasm NA 0 PE1 -NX_Q96P31 80856 734 6.56 1 Cell membrane Rheumatoid arthritis 1 PE1 -NX_Q96P44 99369 957 8.57 6 Cytosol;Extracellular matrix;Cytoplasm NA 0 PE1 -NX_Q96P47 95044 875 8.22 7 Cytoplasm NA 0 PE1 -NX_Q96P48 162192 1450 5.86 11 Cytoplasmic vesicle;Cell membrane;Cell membrane;Cytosol;Golgi stack membrane;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q96P50 92495 834 5.69 1 Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q96P53 45154 400 6.46 13 Cytoplasm;Endosome;Early endosome NA 0 PE1 -NX_Q96P56 62041 530 6.83 15 Flagellum membrane Deafness-infertility syndrome 6 PE1 -NX_Q96P63 46276 405 5.36 18 Cytoplasm NA 0 PE1 -NX_Q96P64 73070 663 7.03 10 NA NA 0 PE2 -NX_Q96P65 49488 431 9.27 4 Cell membrane NA 7 PE2 -NX_Q96P66 56716 508 5.51 X Cell membrane Pituitary adenoma, growth hormone-secreting, 2 7 PE1 -NX_Q96P67 38409 336 9.21 X Cell membrane NA 6 PE2 -NX_Q96P68 38251 337 8.54 13 Cell membrane;Cell membrane NA 7 PE2 -NX_Q96P69 39332 363 10.26 4 Cell membrane NA 7 PE1 -NX_Q96P70 115963 1041 4.71 1 Cytosol;Cytoplasm;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q96P71 44350 396 5.83 20 Golgi apparatus;Golgi apparatus NA 0 PE1 -NX_Q96P88 32537 292 9.45 1 Cell membrane NA 5 PE5 -NX_Q96PB1 91680 797 9.04 7 Nucleoplasm;Golgi apparatus membrane NA 15 PE1 -NX_Q96PB7 54930 478 8.29 1 Cytoplasmic vesicle;Secreted;Synapse NA 0 PE1 -NX_Q96PB8 29275 259 6.49 3 Membrane NA 1 PE1 -NX_Q96PC2 46417 410 8.28 6 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q96PC3 18280 154 6.32 2 Cytoplasmic vesicle;Golgi apparatus;Cytoplasmic vesicle membrane;Clathrin-coated pit Psoriasis 15, pustular 0 PE1 -NX_Q96PC5 159836 1412 4.61 14 Endoplasmic reticulum;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q96PD2 85035 775 6.77 3 Cell membrane;Cytosol;Membrane;Cell membrane;Golgi apparatus NA 1 PE1 -NX_Q96PD4 18045 163 9.15 6 Secreted Candidiasis, familial, 6 0 PE1 -NX_Q96PD5 62217 576 7.25 19 Cell junction;Secreted;Membrane NA 0 PE1 -NX_Q96PD6 38812 335 9.52 2 Endoplasmic reticulum membrane NA 3 PE2 -NX_Q96PD7 43831 388 9.46 11 Endoplasmic reticulum membrane;Lipid droplet NA 2 PE1 -NX_Q96PE1 142647 1338 8.82 8 Filopodium;Cell membrane NA 7 PE1 -NX_Q96PE2 221673 2063 5.9 11 Cytosol NA 0 PE1 -NX_Q96PE3 109956 977 6.53 2 Nucleus;Nucleus membrane NA 0 PE1 -NX_Q96PE5 15683 141 5.83 10 Cell membrane;Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q96PE6 54498 472 9.43 19 Nucleus NA 0 PE1 -NX_Q96PE7 18749 176 9.17 2 Cytoplasm;Nucleolus;Mitochondrion Methylmalonyl-CoA epimerase deficiency 0 PE1 -NX_Q96PF1 79941 710 6.54 15 NA NA 0 PE2 -NX_Q96PF2 40939 358 9.02 22 Centriole;Cytoplasm NA 0 PE1 -NX_Q96PG1 15209 132 8.42 11 Membrane NA 2 PE2 -NX_Q96PG2 29747 267 9.14 11 Membrane NA 4 PE2 -NX_Q96PG8 26498 261 11.98 19 Mitochondrion NA 0 PE1 -NX_Q96PH1 86439 765 8.88 15 Membrane;Endoplasmic reticulum NA 7 PE1 -NX_Q96PH6 13614 123 6.88 20 Secreted NA 0 PE1 -NX_Q96PI1 8793 79 9.76 1 Cytoplasm;Cell cortex NA 0 PE2 -NX_Q96PJ5 57224 515 6.08 1 Cell membrane NA 1 PE1 -NX_Q96PK6 69492 669 9.68 11 Nucleus speckle;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q96PL1 10161 93 6.71 5 Secreted NA 0 PE1 -NX_Q96PL2 36956 329 8.34 10 Cell membrane;Extracellular matrix NA 0 PE2 -NX_Q96PL5 52605 475 8.75 1 Cell membrane;Cytoplasm NA 1 PE1 -NX_Q96PM5 30110 261 6.26 4 Nucleus;Cytosol;Cytoplasm;Nucleus speckle;Nucleoplasm NA 0 PE1 -NX_Q96PM9 40454 386 9.88 12 Nucleus;Cytosol;Cytoplasm;Nucleolus;Dendrite NA 0 PE1 -NX_Q96PN6 187149 1610 6.99 1 Mitochondrion;Perinuclear region;Cytoskeleton;Cell membrane;Cilium;Cytoplasm;Nucleus Hypercalciuria absorptive 2 0 PE1 -NX_Q96PN7 132256 1200 6.26 6 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96PN8 30102 268 6.25 1 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q96PP4 31778 275 10.07 7 NA NA 0 PE1 -NX_Q96PP8 66617 586 5.38 1 Cytoplasm;Endoplasmic reticulum;Golgi apparatus membrane NA 0 PE1 -NX_Q96PP9 73165 640 5.73 1 Cell membrane;Cytoplasm;Perinuclear region;Nucleus;Golgi apparatus membrane NA 0 PE1 -NX_Q96PQ0 128152 1159 6.64 4 Membrane;Cytosol;Nucleus NA 1 PE1 -NX_Q96PQ1 64984 595 6.21 19 Membrane NA 1 PE1 -NX_Q96PQ5 22863 205 4.73 6 NA NA 0 PE5 -NX_Q96PQ6 67959 595 9.21 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96PQ7 84457 755 6.2 4 Cytoskeleton NA 0 PE1 -NX_Q96PR1 70226 638 8.24 12 Membrane;Basolateral cell membrane;Apical cell membrane;Axon;Dendrite;Postsynaptic cell membrane;Cell membrane;Cytosol;Presynaptic cell membrane;Synaptosome;Synapse;Cell membrane;Perikaryon NA 6 PE1 -NX_Q96PS1 20188 177 9.45 3 NA NA 0 PE2 -NX_Q96PS6 8425 74 8.48 14 Membrane NA 1 PE4 -NX_Q96PS8 31763 301 6.29 1 Membrane NA 5 PE1 -NX_Q96PT3 22164 197 10.66 unknown Nucleus NA 0 PE2 -NX_Q96PT4 22130 197 10.87 unknown Nucleus NA 0 PE2 -NX_Q96PU4 89985 802 8.55 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96PU5 111932 975 5.56 18 Focal adhesion;Cytoplasm;Golgi apparatus;Multivesicular body Periventricular nodular heterotopia 7 0 PE1 -NX_Q96PU8 37671 341 8.63 6 Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96PU9 27710 254 9.9 11 Cytoplasm NA 0 PE1 -NX_Q96PV0 148284 1343 9.12 6 Nucleus Mental retardation, autosomal dominant 5 0 PE1 -NX_Q96PV4 49934 448 6.33 X NA NA 0 PE1 -NX_Q96PV6 86129 779 9.43 19 Nucleus NA 0 PE1 -NX_Q96PV7 96543 902 8.18 5 Nucleus;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q96PW8 48591 444 4.63 15 NA NA 0 PE5 -NX_Q96PX1 73579 679 4.6 17 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q96PX6 59976 553 9.03 2 NA NA 0 PE1 -NX_Q96PX8 77735 696 6.01 13 Membrane;Secreted;Synapse Trichotillomania 1 PE1 -NX_Q96PX9 139667 1271 6.33 5 Nucleoplasm NA 0 PE1 -NX_Q96PY0 28245 264 11.15 7 NA NA 0 PE5 -NX_Q96PY5 123321 1086 6.98 2 Cytosol;Cell membrane;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q96PY6 142828 1258 5.67 4 Nucleolus;Nucleus membrane;Nucleus;Cytoplasm;Centrosome Short-rib thoracic dysplasia 6 with or without polydactyly 0 PE1 -NX_Q96PZ0 75035 661 5.98 7 Nucleus NA 0 PE1 -NX_Q96PZ2 70196 611 8.77 11 Nucleolus;Nucleus;Nucleus;Cytoplasm Gracile bone dysplasia;Kenny-Caffey syndrome 2 0 PE1 -NX_Q96PZ7 388869 3565 5.68 8 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q96Q04 153661 1460 4.77 19 Cell junction;Nucleoplasm;Membrane;Dendrite;Golgi apparatus membrane;Axon NA 1 PE1 -NX_Q96Q05 128530 1148 6.17 8 Golgi apparatus;Nucleoplasm;Cytoplasmic vesicle;cis-Golgi network;Endoplasmic reticulum;Cytoplasm Mental retardation, autosomal recessive 13 0 PE1 -NX_Q96Q06 134431 1357 8.92 19 Cytosol;Cell membrane;Cytoplasmic vesicle;Cell membrane;Cytoplasm;Lipid droplet;Lipid droplet NA 0 PE1 -NX_Q96Q07 69188 612 5.48 6 Nucleoplasm Restless legs syndrome 6 0 PE1 -NX_Q96Q11 50128 434 8.14 3 Mitochondrion;Mitochondrion;Mitochondrion Retinitis pigmentosa and erythrocytic microcytosis;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 0 PE1 -NX_Q96Q15 410501 3661 6.03 16 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q96Q27 65084 587 7.55 14 NA NA 0 PE1 -NX_Q96Q35 52439 445 6.29 2 Flagellum;Cell membrane;Cytosol;Cytoplasm;Cytoplasmic granule NA 0 PE1 -NX_Q96Q40 49023 435 6.68 2 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q96Q42 183634 1657 5.88 2 Cytosol;Cytoskeleton Infantile-onset ascending spastic paralysis;Juvenile primary lateral sclerosis;Amyotrophic lateral sclerosis 2 0 PE1 -NX_Q96Q45 45526 408 6.09 2 Membrane;Cilium Joubert syndrome 14 4 PE1 -NX_Q96Q77 21802 187 4.52 19 NA NA 0 PE1 -NX_Q96Q80 26679 235 8.64 22 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 4 PE1 -NX_Q96Q83 33375 286 8.58 11 Nucleus;Cytoplasm;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q96Q89 210629 1820 5.54 10 Nucleus;Cytoplasm;Midbody;Cytosol;Midbody;Axon;Growth cone;Nucleoplasm;Nucleus;Centrosome;Nucleolus;Nucleoplasm;Spindle;Spindle pole NA 0 PE1 -NX_Q96Q91 108248 983 6.66 5 Membrane NA 12 PE2 -NX_Q96QA5 49365 445 5.19 17 Perinuclear region;Cytosol;Cell membrane NA 0 PE1 -NX_Q96QA6 13577 119 8.21 17 Nucleolus NA 0 PE1 -NX_Q96QB1 170591 1528 5.98 8 Nucleoplasm;Golgi apparatus;Cytoplasmic vesicle;Cytoplasm;Focal adhesion;Membrane NA 0 PE1 -NX_Q96QC0 99058 940 9.22 6 Nucleus;Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q96QD5 58310 511 7.62 11 Nucleus;Cytosol;Nucleolus NA 0 PE1 -NX_Q96QD8 56026 506 8.08 12 Cell membrane;Cytoplasmic vesicle NA 11 PE1 -NX_Q96QD9 35818 318 11.78 3 Nucleus envelope;Nucleus speckle;Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_Q96QE2 70371 648 5.81 12 Nucleus membrane;Membrane NA 12 PE1 -NX_Q96QE3 207570 1844 9.27 17 Nucleus NA 0 PE1 -NX_Q96QE4 105567 947 4.83 17 Cytosol;Membrane NA 1 PE1 -NX_Q96QE5 41676 360 9.39 17 Mitochondrion nucleoid;Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q96QF0 53021 476 5.73 12 Cytoplasm;Lamellipodium;Cytoskeleton;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q96QF7 76112 691 4.37 X Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q96QG7 63462 549 5.98 8 Cytoskeleton;Centrosome;Cytoplasm NA 0 PE1 -NX_Q96QH2 79245 718 9.63 19 Golgi apparatus NA 0 PE1 -NX_Q96QH8 17896 159 5.94 X Secreted NA 0 PE1 -NX_Q96QI5 37186 342 10.8 16 Golgi apparatus membrane NA 1 PE1 -NX_Q96QK1 91707 796 5.32 16 Endosome;Cytoplasm;Endosome;Early endosome;Lysosome;Membrane;Endosome;Late endosome Parkinson disease 17 0 PE1 -NX_Q96QK8 10710 99 5.15 4 Mitochondrion;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q96QP1 138861 1244 5.83 4 Centrosome NA 0 PE1 -NX_Q96QR1 10100 104 8.57 5 Secreted NA 0 PE1 -NX_Q96QR8 33241 312 5.35 7 Nucleus;Nucleus NA 0 PE1 -NX_Q96QS1 34631 320 8.81 11 Membrane NA 4 PE1 -NX_Q96QS3 58160 562 5.14 X Nucleus Agenesis of the corpus callosum, with abnormal genitalia;Mental retardation, X-linked, ARX-related;Partington syndrome;Epileptic encephalopathy, early infantile, 1;Lissencephaly, X-linked 2 0 PE1 -NX_Q96QS6 43027 385 9.65 8 NA NA 0 PE2 -NX_Q96QT4 212697 1865 8.1 15 Nucleoplasm;Membrane Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 6 PE1 -NX_Q96QT6 109698 1004 7.94 17 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96QU1 216069 1955 4.94 10 Cell membrane;Secreted Deafness, autosomal recessive, 23;Usher syndrome 1D/F;Usher syndrome 1F 1 PE1 -NX_Q96QU4 30564 278 8.29 10 Nucleus NA 0 PE2 -NX_Q96QU6 57324 501 6.01 11 Golgi apparatus NA 0 PE1 -NX_Q96QU8 128883 1125 5.94 16 Cytosol;Nucleolus;Nucleus;Nucleus;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q96QV1 78851 700 8.24 4 Nucleoplasm;Cell membrane;Cytoplasm;Secreted NA 0 PE1 -NX_Q96QV6 14234 131 10.86 6 Nucleus;Chromosome NA 0 PE1 -NX_Q96QZ0 44683 392 8.48 11 Gap junction;Cell membrane NA 4 PE2 -NX_Q96QZ7 164581 1491 7.3 3 Nucleoplasm;Cell junction;Tight junction;Cell membrane NA 0 PE1 -NX_Q96R05 15536 134 7.67 1 Cytosol;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q96R06 134422 1193 4.93 17 Cytoplasmic granule;Centrosome;Midbody;Kinetochore;Spindle pole;Centriolar satellite;Cytoplasm;Cytoskeleton;Spindle NA 0 PE1 -NX_Q96R08 35182 314 6.58 11 Cell membrane NA 7 PE2 -NX_Q96R09 34568 309 8.58 11 Cell membrane NA 7 PE2 -NX_Q96R27 35071 311 8.82 1 Cell membrane NA 7 PE2 -NX_Q96R28 39177 347 7.07 1 Cell membrane NA 7 PE3 -NX_Q96R30 35339 315 8.81 5 Cell membrane NA 7 PE3 -NX_Q96R45 34742 310 8.96 7 Cell membrane NA 7 PE2 -NX_Q96R47 34993 310 8.63 7 Cell membrane NA 7 PE3 -NX_Q96R48 35207 311 9.44 7 Cell membrane NA 7 PE2 -NX_Q96R54 34780 314 8.67 1 Cell membrane NA 7 PE3 -NX_Q96R67 34491 309 8.67 11 Cell membrane NA 7 PE2 -NX_Q96R69 34259 305 8.49 15 Cell membrane NA 7 PE2 -NX_Q96R72 35408 315 8.69 14 Cell membrane NA 7 PE3 -NX_Q96R84 34944 312 8.92 16 Cell membrane NA 7 PE5 -NX_Q96RA2 34747 312 6.57 19 Cell membrane NA 7 PE2 -NX_Q96RB7 34450 305 8.7 11 Cell membrane NA 7 PE2 -NX_Q96RC9 34404 309 6.57 11 Cell membrane NA 7 PE2 -NX_Q96RD0 35272 313 9.23 11 Cell membrane NA 7 PE3 -NX_Q96RD1 35660 312 9.09 12 Cell membrane NA 7 PE2 -NX_Q96RD2 36185 323 8.9 11 Cell membrane NA 7 PE2 -NX_Q96RD3 35524 313 8.11 11 Cell membrane NA 7 PE3 -NX_Q96RD6 74447 677 8.19 22 Cell membrane;Cell membrane;Gap junction NA 4 PE2 -NX_Q96RD7 48050 426 5.75 11 Cell membrane;Cell membrane;Gap junction;Endoplasmic reticulum membrane NA 4 PE1 -NX_Q96RD9 106437 977 6.7 1 Cell membrane NA 1 PE1 -NX_Q96RE7 57258 527 5.52 19 Nucleus;Cytoplasm;Nucleoplasm Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 0 PE1 -NX_Q96RE9 68743 604 9 5 Nucleus;Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q96RF0 68894 628 5.44 5 Cytosol;Endomembrane system;Cytoplasmic vesicle membrane;Endosome membrane;Cell membrane NA 0 PE1 -NX_Q96RG2 142929 1323 4.75 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96RI0 41133 385 9.17 19 Cell membrane NA 7 PE1 -NX_Q96RI1 55914 486 6.39 12 Nucleus;Nucleoplasm Cholestasis, progressive familial intrahepatic, 5 0 PE1 -NX_Q96RI8 38451 345 8.28 6 Cell membrane NA 7 PE2 -NX_Q96RI9 39016 348 6.22 6 Cell membrane NA 7 PE2 -NX_Q96RJ0 39092 339 8.99 6 Cell membrane NA 7 PE2 -NX_Q96RJ3 18864 184 8.47 22 Membrane;Nucleus Immunodeficiency, common variable, 4 1 PE1 -NX_Q96RJ6 19017 166 5.11 7 Nucleus NA 0 PE1 -NX_Q96RK0 163820 1608 8.74 19 Nucleus;Cytoplasmic vesicle;Nucleoplasm Mental retardation, autosomal dominant 45 0 PE1 -NX_Q96RK1 18569 184 5.38 1 Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q96RK4 58282 519 6.9 15 Cytosol;Cytoplasm;Cilium;Flagellum;Centriolar satellite;Cilium membrane;Centrosome Bardet-Biedl syndrome 4 0 PE1 -NX_Q96RL1 79727 719 5.35 5 Nucleus;Nucleus NA 0 PE1 -NX_Q96RL6 75795 698 7.28 19 Membrane NA 1 PE1 -NX_Q96RL7 360276 3174 5.94 9 NA Choreoacanthocytosis 0 PE1 -NX_Q96RM1 7805 72 8.73 1 Cytoplasm NA 0 PE1 -NX_Q96RN1 109006 970 5.86 6 Membrane Spermatogenic failure 3 12 PE1 -NX_Q96RN5 86753 788 9.49 22 Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96RP3 12146 112 11.58 3 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q96RP7 54166 486 10.2 7 Golgi stack membrane;Nucleoplasm;Cytosol NA 1 PE1 -NX_Q96RP8 50559 456 7.03 19 Membrane NA 6 PE2 -NX_Q96RP9 83471 751 6.58 3 Nucleus;Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 1 0 PE1 -NX_Q96RQ1 42549 377 6.27 12 Cytoplasmic vesicle;Nucleus;Cytoplasm;Endoplasmic reticulum membrane;cis-Golgi network membrane;Nucleolus;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 2 PE1 -NX_Q96RQ3 80473 725 7.66 3 Mitochondrion matrix;Mitochondrion 3-methylcrotonoyl-CoA carboxylase 1 deficiency 0 PE1 -NX_Q96RQ9 62881 567 8.79 19 Lysosome NA 0 PE1 -NX_Q96RR1 77154 684 9.13 10 Mitochondrion nucleoid Perrault syndrome 5;Mitochondrial DNA depletion syndrome 7;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 0 PE1 -NX_Q96RR4 64746 588 6.25 12 Cell projection;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q96RS0 96620 853 4.84 8 Cytoplasm;Nucleus;Cytosol;Cajal body;Nucleolus NA 0 PE1 -NX_Q96RS6 66756 583 4.99 8 Cytoplasm;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96RT1 158298 1412 5.32 5 Nucleus speckle;Hemidesmosome;Cell membrane;Nucleus membrane;Basolateral cell membrane NA 0 PE1 -NX_Q96RT6 85282 745 5.85 18 Membrane NA 1 PE1 -NX_Q96RT7 200498 1819 5.89 22 Centrosome Microcephaly and chorioretinopathy, autosomal recessive, 1 0 PE1 -NX_Q96RT8 118321 1024 5.58 15 Cytosol;Centrosome;Centrosome NA 0 PE1 -NX_Q96RU2 122491 1077 5.1 11 Nucleoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96RU3 71307 617 5.53 9 Cytoplasm;Cell membrane;Cytoplasmic vesicle;Clathrin-coated pit;Lysosome;Cell cortex;Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q96RU7 39578 358 8.34 20 Nucleus NA 0 PE1 -NX_Q96RU8 41009 372 6.86 8 Cell membrane NA 0 PE1 -NX_Q96RV3 258676 2341 6.8 14 Membrane;Nucleoplasm NA 10 PE1 -NX_Q96RW7 613390 5635 6.07 1 Basement membrane;Cleavage furrow;Cell junction;Cytoplasm Macular degeneration, age-related, 1 0 PE1 -NX_Q96RY5 134718 1269 8.08 16 Nucleus;Nucleus;Nucleolus;Cytosol NA 0 PE1 -NX_Q96RY7 165193 1462 5.69 16 Cilium;Cilium basal body;Centrosome Short-rib thoracic dysplasia 9 with or without polydactyly 0 PE1 -NX_Q96S06 64873 567 9.42 16 Endoplasmic reticulum membrane Combined lipase deficiency 5 PE1 -NX_Q96S07 40998 402 11.09 16 NA NA 0 PE4 -NX_Q96S15 101989 920 6.11 16 Cytoplasm;Lysosome membrane NA 0 PE1 -NX_Q96S16 36870 334 9.74 16 NA NA 0 PE1 -NX_Q96S19 22578 204 7.71 16 NA NA 0 PE1 -NX_Q96S21 31304 281 9.34 16 Cell membrane NA 0 PE1 -NX_Q96S37 59630 553 8.61 11 Cell membrane Hypouricemia renal 1 12 PE1 -NX_Q96S38 118682 1066 4.76 1 Nucleus;Cytoplasm;Cytosol;Cytoplasm;Membrane;Endosome;Lysosome NA 0 PE1 -NX_Q96S42 39561 347 6.5 10 Secreted Heterotaxy, visceral, 5, autosomal 0 PE1 -NX_Q96S44 28160 253 9.56 20 Nucleus NA 0 PE1 -NX_Q96S52 61656 555 6.05 17 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q96S53 63639 571 6.63 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96S55 72133 665 5.73 6 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96S59 77847 729 6.31 6 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q96S65 63508 589 4.61 3 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q96S66 62023 551 5.36 1 Endoplasmic reticulum;Membrane;Endoplasmic reticulum;Golgi apparatus;Nucleus NA 3 PE1 -NX_Q96S79 23229 203 9.55 17 Cell membrane;Cytoplasmic vesicle NA 0 PE2 -NX_Q96S82 40510 380 4.88 15 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96S86 40894 360 6.07 15 Cell membrane;Cytosol;Extracellular matrix NA 0 PE1 -NX_Q96S90 25003 227 8.59 1 Nucleus NA 0 PE1 -NX_Q96S94 58147 520 10.27 1 Nucleus speckle;Nucleoplasm;Nucleoplasm NA 0 PE1 -NX_Q96S95 8658 79 5.32 3 Centrosome;Nucleus;Nucleus;Cytosol NA 0 PE2 -NX_Q96S96 25733 227 6.08 8 Lysosome NA 0 PE1 -NX_Q96S97 35274 322 8.53 19 Nucleus speckle;Membrane NA 8 PE1 -NX_Q96S99 31195 279 8.59 19 Nucleus;Perinuclear region;Lysosome NA 0 PE1 -NX_Q96SA4 50742 455 5.81 1 Membrane NA 11 PE1 -NX_Q96SB3 89192 815 4.91 17 Lamellipodium;Synapse;Cytoplasm;Filopodium;Ruffle membrane;Cell membrane;Cytoskeleton;Nucleus;Dendritic spine;Adherens junction NA 0 PE1 -NX_Q96SB4 74325 655 5.81 6 Cytoplasm;Nucleus;Cell membrane;Cytosol;Cytoplasm;Nucleus;Nucleus matrix;Microsome;Nucleus NA 0 PE1 -NX_Q96SB8 126326 1091 6.57 2 Nucleus;Cytoplasm;Nucleoplasm;Telomere;PML body;Chromosome;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q96SC8 53356 542 8.05 1 Mitochondrion;Nucleus NA 0 PE2 -NX_Q96SD1 78436 692 5.69 10 Nucleoplasm;Golgi apparatus;Nucleus Omenn syndrome;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation;Severe combined immunodeficiency Athabaskan type 0 PE1 -NX_Q96SE0 45207 405 5.8 2 Membrane NA 1 PE1 -NX_Q96SE7 95770 839 9.34 19 Nucleus;Cytoskeleton NA 0 PE1 -NX_Q96SF2 59388 557 5.49 22 Cytoplasm NA 0 PE1 -NX_Q96SF7 65757 602 7.05 1 Nucleoplasm;Centrosome;Nucleus Cousin syndrome 0 PE1 -NX_Q96SI1 31942 283 7.05 19 Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q96SI9 73653 672 8.91 9 Nucleus;Cytoplasm NA 0 PE1 -NX_Q96SJ8 27710 248 4.9 11 Membrane NA 4 PE1 -NX_Q96SK2 62922 561 8.8 7 Cytoplasmic vesicle;Nucleus membrane;Nucleus speckle;Membrane NA 2 PE1 -NX_Q96SK3 80507 696 8.93 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96SL1 52088 478 8.85 3 Cytoplasmic vesicle;Lysosome membrane NA 12 PE1 -NX_Q96SL4 20996 187 8.42 1 Nucleolus;Secreted Barrett esophagus 0 PE1 -NX_Q96SL8 51996 496 8.59 19 Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96SM3 81668 734 6.19 20 Secreted NA 0 PE1 -NX_Q96SN7 28570 254 8.7 7 Membrane;Nucleus NA 4 PE1 -NX_Q96SN8 215038 1893 5.44 9 Centrosome;Golgi apparatus;Cytoplasm;Centrosome;Cell junction Microcephaly 3, primary, autosomal recessive 0 PE1 -NX_Q96SQ5 65622 575 9.2 19 Nucleus NA 0 PE1 -NX_Q96SQ7 34644 321 10.24 2 Nucleus;Nucleus speckle;Cytoplasm;Nucleoplasm NA 0 PE2 -NX_Q96SQ9 55817 504 8.8 19 Endoplasmic reticulum;Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_Q96SR6 64010 550 9.42 19 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q96ST2 91955 819 4.58 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96ST3 145175 1273 6.82 15 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q96ST8 89590 783 6.36 19 Cytosol;Centrosome;Cytosol;Cell membrane;Mitochondrion intermembrane space;Centriole;Spindle pole NA 0 PE1 -NX_Q96SU4 83185 736 5.77 1 Cytoplasm;Cytoplasmic vesicle;Golgi apparatus;Late endosome membrane;trans-Golgi network membrane NA 0 PE1 -NX_Q96SW2 50546 442 5.41 3 Cytoplasm;Nucleus;Nucleolus;Membrane Mental retardation, autosomal recessive 2A 0 PE1 -NX_Q96SY0 57471 518 4.99 15 Cytoplasm;Mitochondrion;Nucleus membrane;Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96SZ4 80387 725 9.17 16 Nucleus NA 0 PE1 -NX_Q96SZ5 29751 270 5.68 10 NA NA 0 PE1 -NX_Q96SZ6 67689 601 8.52 20 Nucleus speckle;Mitochondrion NA 0 PE1 -NX_Q96T17 81965 732 8.95 X Cytosol;Nucleoplasm NA 0 PE1 -NX_Q96T21 95462 854 8.31 9 Mitochondrion;Nucleus;Nucleoplasm;Mitochondrion Abnormal thyroid hormone metabolism 0 PE1 -NX_Q96T23 163821 1441 4.94 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96T25 68448 663 9.01 13 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96T37 107189 977 10.09 1 Nucleoplasm;Nucleus;Nucleus membrane;Nucleus speckle;Nucleoplasm NA 0 PE1 -NX_Q96T49 63551 567 6.06 20 Cell membrane;Cell projection;Cell membrane;Nucleus speckle;Cell membrane;Nucleus NA 0 PE1 -NX_Q96T51 79818 708 5.54 5 Cytoplasmic vesicle;Nucleus;Early endosome membrane;Cytosol;Cytoplasm NA 0 PE1 -NX_Q96T52 19718 175 9.43 7 Mitochondrion inner membrane;Mitochondrion Gilles de la Tourette syndrome 1 PE1 -NX_Q96T53 49716 435 8.82 8 Golgi apparatus;Endoplasmic reticulum membrane NA 7 PE1 -NX_Q96T54 36895 332 8.61 6 Membrane NA 4 PE2 -NX_Q96T55 34153 309 8.94 6 Membrane NA 4 PE1 -NX_Q96T58 402248 3664 7.35 1 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q96T59 20651 188 8.31 17 Cell junction NA 0 PE1 -NX_Q96T60 57076 521 8.73 19 Nucleus;Nucleolus;Nucleus Microcephaly, seizures, and developmental delay;Ataxia-oculomotor apraxia 4 0 PE1 -NX_Q96T66 28322 252 9.28 3 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q96T68 81894 719 7.62 13 Nucleus;Chromosome;Nucleoplasm NA 0 PE1 -NX_Q96T75 10969 97 8.71 21 NA NA 0 PE1 -NX_Q96T76 113290 1030 5.92 10 Nucleus;Nucleoplasm;Spindle NA 0 PE1 -NX_Q96T83 80131 725 5.97 X Recycling endosome membrane;trans-Golgi network membrane;Cytoplasmic vesicle NA 13 PE1 -NX_Q96T88 89814 793 7.66 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q96T91 14163 129 8.58 11 Secreted NA 0 PE1 -NX_Q96T92 59491 566 9.46 14 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q96TA0 80449 734 4.84 5 Cell membrane NA 1 PE5 -NX_Q96TA1 84138 746 5.82 9 Nucleoplasm;Cytosol;Cell membrane;Cytosol;Adherens junction;Membrane NA 0 PE1 -NX_Q96TA2 86455 773 8.86 10 Nucleus;Mitochondrion;Mitochondrion inner membrane;Mitochondrion Optic atrophy 11 1 PE1 -NX_Q96TC7 52118 470 5.02 15 Mitochondrion;Mitochondrion membrane;Mitochondrion outer membrane;Cytoplasm;Nucleus;Spindle;Spindle pole NA 1 PE1 -NX_Q99062 92156 836 5.76 1 Secreted;Cell membrane Neutropenia, severe congenital 7, autosomal recessive;Hereditary neutrophilia 1 PE1 -NX_Q99075 23067 208 9.47 5 Extracellular space;Cell membrane NA 1 PE1 -NX_Q99081 72965 682 6.52 15 Nucleus;Nucleoplasm;Nucleus;Nucleus speckle Craniosynostosis 3 0 PE1 -NX_Q99102 231518 2169 5.85 3 Cell membrane;Membrane;Secreted;Secreted;Cell membrane NA 1 PE1 -NX_Q99217 21603 191 6.51 X Extracellular matrix Amelogenesis imperfecta 1E 0 PE1 -NX_Q99218 23250 206 6.92 Y Extracellular matrix NA 0 PE2 -NX_Q99250 227975 2005 5.56 2 Cell membrane Epileptic encephalopathy, early infantile, 11;Seizures, benign familial infantile, 3 24 PE1 -NX_Q99259 66897 594 7.54 2 Cytoplasmic vesicle Cerebral palsy, spastic quadriplegic 1 0 PE1 -NX_Q99417 11967 103 5.71 1 Cytoplasm;Nucleus;Mitochondrion;Cytosol;Mitochondrion NA 0 PE1 -NX_Q99418 46546 400 5.43 19 Golgi apparatus;Cell membrane;Cytosol;Growth cone;Tight junction;Cell membrane;Cell projection;Adherens junction;Cytoplasm NA 0 PE1 -NX_Q99424 76827 681 7.32 3 Mitochondrion;Cytoplasmic vesicle;Peroxisome Congenital bile acid synthesis defect 6 0 PE1 -NX_Q99426 27326 244 5.06 19 Cytoplasm;Cell membrane;Cytoplasm;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q99435 91346 816 5.44 12 Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_Q99436 29965 277 7.58 9 Cytoplasm;Nucleus;Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q99437 21406 205 7.61 1 Cytosol;Vacuole membrane NA 5 PE1 -NX_Q99439 33697 309 6.94 19 Cytosol;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q99440 10499 93 8.85 4 NA NA 0 PE2 -NX_Q99442 45862 399 6.67 3 Endoplasmic reticulum;Endoplasmic reticulum;Cytoskeleton;Endoplasmic reticulum membrane NA 2 PE1 -NX_Q99445 17730 158 6.1 8 Cell membrane NA 0 PE2 -NX_Q99447 43835 389 6.44 17 Cytoskeleton;Centrosome NA 0 PE1 -NX_Q99453 31621 314 9.02 4 Nucleus;Nucleoplasm Congenital central hypoventilation syndrome;Neuroblastoma 2 0 PE1 -NX_Q99456 53511 494 4.71 17 NA Corneal dystrophy, Meesmann 0 PE1 -NX_Q99457 57593 506 5.01 X Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q99459 92251 802 8.22 6 Nucleus;Nucleoplasm;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q99460 105836 953 5.25 2 Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q99463 33180 290 9.26 5 Membrane NA 6 PE5 -NX_Q99466 209622 2003 5.43 6 Cell membrane;Nucleus NA 1 PE1 -NX_Q99467 74179 661 5.96 5 Cell membrane NA 1 PE1 -NX_Q99469 44554 402 8.74 3 Nucleoplasm;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q99470 23026 211 6.83 17 Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_Q99471 17328 154 5.94 12 Cytoplasm;Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q99487 44036 392 6.43 1 Cytoplasm NA 0 PE1 -NX_Q99489 37535 341 8.07 6 Peroxisome;Cytosol NA 0 PE1 -NX_Q99490 124674 1192 9.91 12 Nucleus;Cytoplasm;Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q99496 37655 336 6.38 1 Nucleus;Nucleus;Chromosome;Nucleoplasm NA 0 PE1 -NX_Q99497 19891 189 6.33 1 Nucleus;Cytosol;Mitochondrion;Cell membrane;Cytoplasm;Nucleus;Membrane raft Parkinson disease 7 0 PE1 -NX_Q99500 42250 378 9.78 9 Cell membrane NA 7 PE1 -NX_Q99501 72717 681 10.1 22 Cytoskeleton;Cell junction;Cell membrane NA 0 PE1 -NX_Q99502 64593 592 5.79 8 Nucleus;Nucleoplasm;Cytoplasm;Nucleus Otofaciocervical syndrome 1;Anterior segment anomalies with or without cataract;Branchiootorenal syndrome 1;Branchiootic syndrome 1 0 PE1 -NX_Q99504 62663 573 5.06 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q99518 53644 471 6.8 1 Microsome membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_Q99519 45467 415 5.59 6 Lysosome membrane;Cell membrane;Lysosome lumen;Cytoplasmic vesicle;Cytoplasmic vesicle;Cell junction;Lysosome Sialidosis 0 PE1 -NX_Q99523 92068 831 5.46 1 Membrane;Endoplasmic reticulum membrane;Golgi apparatus;Endosome membrane;Golgi stack membrane;Nucleus membrane;Cell membrane;Lysosome membrane;Cell membrane;Cytosol NA 1 PE1 -NX_Q99525 11009 98 11.06 6 Nucleus;Chromosome NA 0 PE1 -NX_Q99527 42248 375 8.63 7 Nucleus;Golgi apparatus membrane;Recycling endosome;Cytoplasm;Perinuclear region;Cytoskeleton;Cell membrane;Basolateral cell membrane;Cytoplasmic vesicle membrane;Early endosome;Axon;Postsynaptic density;Mitochondrion membrane;trans-Golgi network;Endoplasmic reticulum membrane;Dendrite;Dendritic spine membrane NA 7 PE1 -NX_Q99536 41920 393 5.88 17 Cytoplasm;Mitochondrion outer membrane NA 0 PE1 -NX_Q99538 49411 433 6.07 14 Cytosol;Lysosome NA 0 PE1 -NX_Q99541 48075 437 6.34 9 Lipid droplet;Lipid droplet;Membrane NA 0 PE1 -NX_Q99542 57357 508 7.22 12 Endoplasmic reticulum;Cytoplasmic vesicle;Extracellular matrix Cavitary optic disc anomalies 0 PE1 -NX_Q99543 71996 621 8.85 7 Nucleus;Cytosol;Cytosol NA 0 PE1 -NX_Q99547 19024 160 5.15 16 Nucleolus;Cytoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_Q99549 97182 860 5.81 13 Cytosol;Cell membrane;Nucleus;Chromosome;Nucleus NA 0 PE1 -NX_Q99550 133024 1183 5.87 12 Centriole;Cell membrane;Nucleus;Cytosol;Golgi apparatus membrane NA 0 PE1 -NX_Q99551 45778 399 9.49 7 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q99558 104042 947 7.77 17 Cytosol;Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q99567 83542 741 5.47 17 Nucleoplasm;Nuclear pore complex NA 0 PE1 -NX_Q99569 131868 1192 9.07 2 Cell junction;Spindle;Midbody;Cell membrane;Cell membrane;Desmosome NA 0 PE1 -NX_Q99570 153103 1358 6.74 3 Late endosome;Autophagosome;Membrane;Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 -NX_Q99571 43369 388 8.29 12 Cytoskeleton;Cytosol;Membrane NA 2 PE1 -NX_Q99572 68585 595 8.57 12 Cell membrane NA 2 PE1 -NX_Q99574 46427 410 4.84 3 Cytosol;Secreted;Secretory vesicle lumen;Perikaryon Encephalopathy, familial, with neuroserpin inclusion bodies 0 PE1 -NX_Q99575 114709 1024 9.36 8 Nucleolus;Nucleolus Anauxetic dysplasia 2 0 PE1 -NX_Q99576 14810 134 4.51 X Cytoplasm;Cytosol;Nucleus;Cytoplasm;Nucleus speckle;Golgi apparatus NA 0 PE1 -NX_Q99578 24668 217 6.14 18 Nucleus;Cell membrane NA 0 PE1 -NX_Q99581 25030 238 9.28 2 Nucleus;Nucleus speckle Sudden infant death syndrome 0 PE1 -NX_Q99583 62300 582 8.79 17 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q99584 11471 98 5.9 1 Nucleus;Cytosol;Cytoplasm;Secreted;Nucleolus;Cell membrane NA 0 PE1 -NX_Q99590 164652 1463 8.69 12 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q99592 58354 522 5.41 1 Nucleoplasm;Cytoskeleton;Cytoskeleton;Nucleus Mental retardation, autosomal dominant 22 0 PE1 -NX_Q99593 57711 518 7.14 12 Nucleoplasm;Nucleus Holt-Oram syndrome 0 PE1 -NX_Q99594 48676 435 8.49 6 Nucleus NA 0 PE1 -NX_Q99595 18024 171 7.72 1 Mitochondrion inner membrane;Nucleoplasm;Mitochondrion NA 3 PE1 -NX_Q99598 33112 290 6.1 1 Perinuclear region;Nucleoplasm;Golgi apparatus;Nucleus;Cytosol NA 0 PE1 -NX_Q99607 70730 663 5.41 X Nucleoplasm;PML body;Nucleus NA 0 PE1 -NX_Q99608 36086 321 8.81 15 Nucleoplasm;Cytosol;Perikaryon;Nucleus NA 0 PE1 -NX_Q99611 47305 448 5.63 16 Nucleoplasm NA 0 PE1 -NX_Q99612 31865 283 6.46 10 Nucleus;Cytosol;Cytoplasmic vesicle;Nucleus;Nucleolus Prostate cancer;Gastric cancer 0 PE1 -NX_Q99613 105344 913 5.48 16 Cytoplasm NA 0 PE1 -NX_Q99614 33526 292 4.78 5 Cytoplasm;Cytosol NA 0 PE1 -NX_Q99615 56441 494 6.56 17 Nucleus;Cytoplasm;Cytosol;Cytoplasm;Nucleus;Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q99616 10986 98 9.94 17 Secreted NA 0 PE1 -NX_Q99618 28998 268 6.02 12 Cytosol;Cytosol NA 0 PE1 -NX_Q99619 28630 263 8.32 12 Cytoplasm NA 0 PE1 -NX_Q99622 13178 126 5.04 12 Cytoplasm;Nucleus speckle Temtamy syndrome 0 PE1 -NX_Q99623 33296 299 9.83 12 Cytoplasm;Mitochondrion inner membrane;Cytoplasm;Nucleus;Mitochondrion NA 0 PE1 -NX_Q99624 55773 504 8.03 3 Cell membrane;Cytosol;Cytoskeleton;Cell membrane NA 10 PE1 -NX_Q99626 33520 313 9.65 13 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q99627 23226 209 5.25 2 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q99633 39860 342 8.19 10 Nucleus speckle;Cytosol;Nucleus speckle NA 0 PE1 -NX_Q99638 42547 391 5.41 11 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q99640 54521 499 6.48 16 Endoplasmic reticulum membrane;Golgi apparatus;Golgi apparatus membrane;Nucleus;Nucleolus NA 0 PE1 -NX_Q99643 18610 169 9.74 1 Mitochondrion inner membrane Paragangliomas 3;Paraganglioma and gastric stromal sarcoma 3 PE1 -NX_Q99645 36637 322 4.67 12 Extracellular matrix NA 0 PE1 -NX_Q99650 110509 979 5.54 5 Nucleolus;Membrane Amyloidosis, primary localized cutaneous, 1 1 PE1 -NX_Q99653 22456 195 4.98 15 Nucleus;Cytoplasmic vesicle;Cytoskeleton;Endomembrane system;Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum;Cytoplasm;Cell membrane;Membrane NA 0 PE1 -NX_Q99661 81313 725 8.03 1 Cytoskeleton;Nucleoplasm;Centrosome;Centromere;Nucleus;Cytoskeleton;Kinetochore NA 0 PE1 -NX_Q99665 97135 862 7.91 1 Membrane;Cell membrane;Cytosol NA 1 PE1 -NX_Q99666 198924 1765 6.03 2 Nucleus envelope;Cytoplasm NA 0 PE1 -NX_Q99674 31905 301 4.35 2 Secreted NA 0 PE1 -NX_Q99675 38242 332 5.05 14 Cytoplasmic vesicle;Endoplasmic reticulum;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q99676 86174 751 8.41 6 Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_Q99677 41895 370 9.28 X Cell membrane NA 7 PE1 -NX_Q99678 38650 358 9.36 8 Cell membrane NA 7 PE1 -NX_Q99679 39515 349 7.87 9 Cell membrane NA 7 PE2 -NX_Q99680 49265 433 9.43 7 Cell membrane NA 7 PE2 -NX_Q99683 154537 1374 5.52 6 Endoplasmic reticulum;Cytoplasm;Cytosol NA 0 PE1 -NX_Q99684 45297 422 9.24 1 Nucleus Dominant nonimmune chronic idiopathic neutropenia of adults;Neutropenia, severe congenital 2, autosomal dominant 0 PE1 -NX_Q99685 33261 303 6.49 3 Cytosol;Nucleoplasm;Membrane NA 0 PE1 -NX_Q99687 41115 375 5 19 Nucleus NA 0 PE2 -NX_Q99689 45119 392 4.24 11 Centrosome;Cell membrane;Cytoskeleton;Cytosol NA 0 PE1 -NX_Q99697 35370 317 9.53 4 Nucleus;Nucleus Anterior segment dysgenesis 4;Axenfeld-Rieger syndrome 1;Ring dermoid of cornea 0 PE1 -NX_Q99698 429139 3801 6.15 1 Nucleoplasm;Cytoplasm Chediak-Higashi syndrome 0 PE1 -NX_Q99700 140283 1313 9.6 12 Cytosol;Cytoplasm Amyotrophic lateral sclerosis 13;Spinocerebellar ataxia 2 0 PE1 -NX_Q99704 52392 481 6.05 2 Cytoplasm;Nucleus;Cytosol;Perinuclear region NA 0 PE1 -NX_Q99705 45963 422 9.23 22 Cell membrane NA 7 PE1 -NX_Q99706 41487 377 7.29 19 Cell membrane NA 1 PE1 -NX_Q99707 140527 1265 5.39 1 Cytoplasm;Cytosol Homocystinuria-megaloblastic anemia, cblG complementation type;Neural tube defects, folate-sensitive 0 PE1 -NX_Q99708 101942 897 5.92 18 Nucleus;Chromosome;Nucleoplasm Jawad syndrome;Seckel syndrome 2 0 PE1 -NX_Q99712 42577 375 7.6 21 Membrane;Cytoplasmic vesicle;Cell membrane;Cytosol NA 2 PE1 -NX_Q99714 26923 261 7.65 X Mitochondrion Mental retardation, X-linked 17;HDS10 mitochondrial disease 0 PE1 -NX_Q99715 333147 3063 5.38 6 Nucleus;Extracellular matrix Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 0 PE1 -NX_Q99717 52258 465 7.63 5 Nucleus;Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q99719 42777 369 6.21 22 Cytoskeleton;Cytosol;Cytoskeleton;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q99720 25128 223 5.61 9 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cell junction;Cell membrane;Postsynaptic density;Growth cone;Nucleus inner membrane;Nucleus outer membrane;Nucleus envelope;Membrane;Lipid droplet Distal spinal muscular atrophy, autosomal recessive, 2;Amyotrophic lateral sclerosis 16, juvenile 1 PE1 -NX_Q99726 41945 388 6 2 Nucleus;Nucleolus;Synaptic vesicle membrane;Synaptosome;Late endosome membrane;Lysosome membrane;Synaptic vesicle;Cytoplasmic vesicle;Cytosol NA 6 PE1 -NX_Q99727 25503 224 7.95 3 Secreted NA 0 PE1 -NX_Q99728 86648 777 8.99 2 Nucleus;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q99729 36225 332 8.21 5 Nucleus;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q99731 10993 98 9.84 9 Secreted NA 0 PE1 -NX_Q99732 17107 161 5.99 16 Cytosol;Cytoplasm;Early endosome membrane;Lysosome membrane;Nucleus;Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus membrane;Cell membrane;Endosome membrane;Late endosome membrane Charcot-Marie-Tooth disease 1C 0 PE1 -NX_Q99733 42823 375 4.6 11 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q99735 16621 147 9.6 4 Nucleoplasm;Endoplasmic reticulum membrane;Microsome membrane NA 3 PE1 -NX_Q99741 62720 560 9.64 17 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleoplasm Meier-Gorlin syndrome 5 0 PE1 -NX_Q99742 62702 590 8.61 19 Nucleoplasm;Nucleus NA 0 PE2 -NX_Q99743 91791 824 6.35 2 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q99747 34746 312 5.3 18 Membrane;Cytosol;Cell membrane NA 0 PE1 -NX_Q99748 22405 197 10.92 19 Golgi apparatus;Secreted NA 0 PE1 -NX_Q99750 25029 246 4.29 6 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q99755 62633 562 8.41 1 Nucleus speckle;Ruffle;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q99757 18383 166 8.46 22 Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 29 0 PE1 -NX_Q99758 191362 1704 7.55 16 Nucleoplasm;Cytosol;Membrane Pulmonary surfactant metabolism dysfunction 3 14 PE1 -NX_Q99759 70898 626 8.98 17 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q99766 24866 215 7.51 14 Mitochondrion;Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_Q99767 82512 749 4.77 15 Nucleoplasm;Golgi apparatus;Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q99784 55343 485 6.48 9 Cytosol;Perikaryon;Nucleus;Nucleolus;Secreted;Synapse;Endoplasmic reticulum;Axon NA 0 PE1 -NX_Q99788 42322 373 8.71 12 Cell membrane NA 7 PE1 -NX_Q99795 35632 319 4.85 1 Membrane NA 1 PE1 -NX_Q99797 80641 713 6.6 13 Mitochondrion;Mitochondrion matrix Combined oxidative phosphorylation deficiency 31 0 PE1 -NX_Q99798 85425 780 7.36 22 Mitochondrion;Mitochondrion Infantile cerebellar-retinal degeneration;Optic atrophy 9 0 PE1 -NX_Q99801 26350 234 9.23 8 Nucleus NA 0 PE1 -NX_Q99805 75776 663 7.22 13 Cytoplasm;Cell membrane;Endosome membrane NA 9 PE1 -NX_Q99807 24277 217 8.77 16 Mitochondrion;Cell membrane;Nucleoplasm;Mitochondrion inner membrane Coenzyme Q10 deficiency, primary, 8 0 PE1 -NX_Q99808 50219 456 8.62 6 Apical cell membrane;Cell membrane;Basolateral cell membrane NA 11 PE1 -NX_Q99811 27079 253 10.15 9 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q99814 96459 870 5.87 2 Nucleus speckle;Nucleoplasm;Nucleus;Cytosol Erythrocytosis, familial, 4 0 PE1 -NX_Q99816 43944 390 6.06 11 Cytosol;Cytoplasm;Cell membrane;Nucleus;Midbody ring;Centrosome;Late endosome membrane;Early endosome membrane;Nucleolus NA 0 PE1 -NX_Q99819 25098 225 5.45 16 Cytoplasm NA 0 PE1 -NX_Q99828 21703 191 4.65 15 Lamellipodium;trans-Golgi network;Membrane;Growth cone;Perinuclear region;Cell membrane;Nucleoplasm;Nucleus;Sarcolemma;Cell membrane;Apical cell membrane;Ruffle membrane;Filopodium tip;Cytoplasm;Cytoskeleton;Centrosome NA 0 PE1 -NX_Q99829 59059 537 5.52 20 Nucleoplasm;Cell membrane;Nucleus membrane;Nucleus;Cytoplasm NA 0 PE1 -NX_Q99832 59367 543 7.55 2 Cytoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q99835 86397 787 8.71 7 Membrane;Cilium Curry-Jones syndrome 7 PE1 -NX_Q99836 33233 296 5.89 3 Mitochondrion;Cytoplasm;Cytosol;Cytoplasmic vesicle MYD88 deficiency 0 PE1 -NX_Q99848 34852 306 10.1 1 Nucleolus;Nucleolus NA 0 PE1 -NX_Q99853 34978 325 9.66 15 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q99856 62889 593 4.84 19 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q99865 29188 258 6.72 X NA NA 0 PE1 -NX_Q99871 40778 368 4.73 X Nucleus;Cytoplasm;Cytosol;Centrosome;Spindle;Centrosome;Cell membrane;Nucleolus NA 0 PE1 -NX_Q99873 41516 361 5.24 19 Nucleus;Cytoplasm;Nucleus;Nucleoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q99877 13922 126 10.31 6 Nucleus;Chromosome NA 0 PE1 -NX_Q99878 13936 128 10.88 6 Chromosome;Nucleus NA 0 PE1 -NX_Q99879 13989 126 10.31 6 Chromosome;Nucleus NA 0 PE1 -NX_Q99880 13952 126 10.31 6 Nucleus;Chromosome NA 0 PE1 -NX_Q99884 70911 636 6.22 5 Cell membrane;Cytoplasm;Membrane NA 12 PE1 -NX_Q99895 29484 268 7.54 1 NA Pancreatitis, hereditary 0 PE1 -NX_Q99909 21697 188 8.82 X NA NA 0 PE1 -NX_Q99928 54289 467 7.46 15 Postsynaptic cell membrane;Cell membrane NA 4 PE2 -NX_Q99929 20185 193 11.18 11 Nucleus NA 0 PE1 -NX_Q99932 44819 426 5.31 9 Acrosome;Microtubule organizing center;Cytoplasm;Nucleus;Spindle NA 0 PE1 -NX_Q99933 38779 345 7.68 9 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q99935 27217 248 10.42 4 Secreted NA 0 PE1 -NX_Q99941 76709 703 5.9 6 Nucleus;Endoplasmic reticulum membrane;Nucleus;Nucleolus NA 1 PE1 -NX_Q99942 19881 180 6.2 6 Mitochondrion membrane;Endoplasmic reticulum membrane;Membrane;Endoplasmic reticulum NA 2 PE1 -NX_Q99943 31717 283 9.48 6 Endoplasmic reticulum;Endoplasmic reticulum membrane;Cytoplasm NA 3 PE1 -NX_Q99944 32262 293 6.37 6 Secreted;Nucleus speckle;Cytoplasmic vesicle NA 0 PE1 -NX_Q99946 31430 306 7.26 6 Cell membrane;Synapse NA 2 PE1 -NX_Q99952 50482 460 8.57 2 Nucleus;Cytoplasm NA 0 PE1 -NX_Q99954 14048 134 9.62 4 Secreted NA 0 PE1 -NX_Q99956 41868 384 5.8 X Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_Q99958 53719 501 8.68 16 Nucleus;Nucleoplasm;Nucleus Lymphedema-distichiasis 0 PE1 -NX_Q99959 97415 881 9.39 12 Nucleoplasm;Cell junction;Nucleus;Desmosome Arrhythmogenic right ventricular dysplasia, familial, 9 0 PE1 -NX_Q99961 41490 368 5.31 19 Cytosol;Cytoplasm;Early endosome membrane;Podosome NA 0 PE1 -NX_Q99962 39962 352 5.32 9 Cytoskeleton;Cytoplasm;Membrane;Cytoskeleton;Early endosome NA 0 PE1 -NX_Q99963 39285 347 5.27 15 Cytosol;Cytoplasm;Early endosome membrane NA 0 PE1 -NX_Q99965 82457 735 5.77 8 Membrane NA 1 PE1 -NX_Q99966 19896 193 4.63 X Nucleoplasm;Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_Q99967 28497 270 6.42 6 Nucleoplasm;Nucleus Atrial septal defect 8;Ventricular septal defect 2 0 PE1 -NX_Q99969 18618 163 9.3 7 Cytosol;Secreted NA 0 PE1 -NX_Q99972 56972 504 5.44 1 Mitochondrion intermembrane space;Mitochondrion inner membrane;Secreted;Secreted;Golgi apparatus;Cytoplasmic vesicle;Extracellular space;Extracellular matrix;Rough endoplasmic reticulum;Mitochondrion outer membrane;Endoplasmic reticulum;Exosome;Mitochondrion;Cell projection;Cilium Glaucoma 1, open angle, A;Glaucoma 3, primary congenital, A 0 PE1 -NX_Q99973 290490 2627 8.26 14 Cytoplasmic vesicle;Nucleus;Nucleoplasm;Telomere NA 0 PE1 -NX_Q99983 49492 421 5.34 9 Extracellular matrix NA 0 PE1 -NX_Q99985 85207 751 8.96 7 Cytosol;Cell membrane;Golgi apparatus;Secreted NA 0 PE1 -NX_Q99986 45476 396 9.02 14 Spindle;Cytoplasm;Nucleus;Cytosol;Nucleus Pontocerebellar hypoplasia 1A 0 PE1 -NX_Q99988 34140 308 9.79 19 Secreted;Golgi apparatus NA 0 PE1 -NX_Q99990 28707 258 9.26 X Nucleus;Nucleus NA 0 PE1 -NX_Q99996 453667 3911 4.95 7 Golgi apparatus;Cytoplasmic vesicle;Centrosome;Golgi apparatus;Cytoplasm;Centrosome Long QT syndrome 11 0 PE1 -NX_Q99999 48764 423 8.84 22 Golgi apparatus membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q9BPU6 61421 564 6.73 2 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9BPU9 19261 175 7.14 19 Cilium axoneme;Cilium basal body;Nucleus Meckel syndrome 10 0 PE1 -NX_Q9BPV8 40789 354 9.94 3 Cell membrane NA 7 PE1 -NX_Q9BPW4 39164 351 7.78 22 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q9BPW5 27508 248 9.28 4 Nucleus NA 0 PE2 -NX_Q9BPW8 33310 284 9.35 22 NA NA 0 PE1 -NX_Q9BPW9 35227 319 8.78 2 Microsome membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_Q9BPX1 28317 270 5.8 19 Cytoplasm NA 0 PE1 -NX_Q9BPX3 114334 1015 5.44 4 Nucleus;Cytoplasm;Chromosome NA 0 PE1 -NX_Q9BPX5 16941 153 6.15 9 Cytoskeleton NA 0 PE1 -NX_Q9BPX6 54351 476 8.61 10 Mitochondrion;Mitochondrion intermembrane space;Mitochondrion inner membrane Myopathy with extrapyramidal signs 1 PE1 -NX_Q9BPX7 46451 421 6 7 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9BPY3 39499 351 5.65 11 Cytosol;Cajal body;Cytoskeleton NA 0 PE1 -NX_Q9BPY8 8260 73 4.8 4 Cytoskeleton;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9BPZ2 29158 258 6.72 X Nucleus NA 0 PE2 -NX_Q9BPZ3 14984 127 4.03 5 Cytoplasm;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q9BPZ7 59123 522 7.24 9 Cell membrane;Nucleoplasm;Cytosol;Cell membrane;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9BQ04 40150 359 6.28 11 Nucleus;Nucleolus NA 0 PE1 -NX_Q9BQ08 11730 111 7.44 3 Secreted NA 0 PE2 -NX_Q9BQ13 29591 255 8.78 11 NA NA 0 PE1 -NX_Q9BQ15 22338 211 9.17 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BQ16 49429 436 4.79 4 Extracellular matrix;Golgi apparatus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9BQ24 26506 234 8.78 14 Cytoplasm;Focal adhesion;Cytoplasmic vesicle;Endosome NA 0 PE1 -NX_Q9BQ31 56001 491 4.92 2 Cell membrane;Cytosol;Golgi apparatus;Cell membrane NA 6 PE1 -NX_Q9BQ39 82565 737 9.26 10 Nucleolus;Nucleolus NA 0 PE1 -NX_Q9BQ48 10165 92 12.25 19 Mitochondrion NA 0 PE1 -NX_Q9BQ49 8631 75 7.9 19 Membrane;Golgi apparatus NA 1 PE1 -NX_Q9BQ50 30621 279 6.37 X Nucleus NA 0 PE1 -NX_Q9BQ51 30957 273 8.18 9 Secreted;Cytosol;Endomembrane system;Cell membrane NA 1 PE1 -NX_Q9BQ52 92219 826 8.13 17 Nucleoplasm;Nucleus;Mitochondrion Combined oxidative phosphorylation deficiency 17;Prostate cancer, hereditary, 2 0 PE1 -NX_Q9BQ61 18419 176 9.46 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9BQ65 30268 265 6.06 16 Nucleus;Nucleus Poikiloderma with neutropenia 0 PE1 -NX_Q9BQ66 21407 201 8.37 17 NA NA 0 PE1 -NX_Q9BQ67 49419 446 4.82 19 Nucleus;Chromosome;Nucleolus;Nucleus;Nucleolus NA 0 PE1 -NX_Q9BQ69 35505 325 9.58 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BQ70 76667 676 5.96 16 Nucleus;Nucleus NA 0 PE1 -NX_Q9BQ75 31884 279 9.26 3 Nucleus;Nucleus;Mitochondrion;Nucleolus;Nucleus membrane NA 0 PE1 -NX_Q9BQ83 30771 275 6.59 16 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9BQ87 56688 522 5.33 Y Nucleus NA 0 PE1 -NX_Q9BQ89 31271 295 10.46 20 Cytoplasm;Cytoplasmic vesicle;Cytosol;Nucleus;Spindle pole;Centrosome NA 0 PE1 -NX_Q9BQ90 43088 382 8.37 6 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9BQ95 49148 431 5.89 19 Cytosol;Cytoplasm;Nucleus;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q9BQA1 36724 342 5.03 1 Nucleoplasm;Golgi apparatus;Nucleus;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9BQA5 59678 517 5.77 11 Cytosol;Nucleus;Nucleus;Cell junction NA 0 PE1 -NX_Q9BQA9 20774 187 6.3 17 Membrane;Cell membrane;Cell junction NA 1 PE1 -NX_Q9BQB4 24031 213 9.43 17 Extracellular matrix Craniodiaphyseal dysplasia autosomal dominant;Van Buchem disease;Sclerosteosis 1 0 PE1 -NX_Q9BQB6 18235 163 9.53 16 Endoplasmic reticulum membrane Coumarin resistance;Combined deficiency of vitamin K-dependent clotting factors 2 4 PE1 -NX_Q9BQC3 52083 489 5.36 1 Nucleus NA 0 PE1 -NX_Q9BQC6 12266 102 11.45 13 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9BQD1 9856 86 8.66 5 NA NA 0 PE5 -NX_Q9BQD3 19668 176 4.79 19 Lysosome membrane;Nucleolus;Centrosome;Cytosol NA 0 PE1 -NX_Q9BQD7 25130 235 9.45 16 Membrane;Cytosol NA 1 PE1 -NX_Q9BQE3 49895 449 4.96 12 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q9BQE4 21163 189 9.72 15 Cytoplasm;Endoplasmic reticulum;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9BQE5 37092 337 6.28 22 Cytoplasm NA 0 PE1 -NX_Q9BQE6 31565 289 4.52 11 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9BQE9 22195 202 4.67 7 Nucleoplasm NA 0 PE1 -NX_Q9BQF6 119658 1050 6.19 3 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9BQG0 148855 1328 9.34 17 Nucleolus;Nucleolus;Cytoplasm;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q9BQG1 63304 590 6.16 19 Cell membrane;Secretory vesicle membrane;Cell membrane NA 1 PE1 -NX_Q9BQG2 52076 462 6.38 5 Nucleus;Peroxisome NA 0 PE1 -NX_Q9BQI0 17068 150 6.63 9 Cytoskeleton;Cytoskeleton;Ruffle membrane NA 0 PE1 -NX_Q9BQI3 71106 630 5.68 7 Cytoplasm;Nucleus;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9BQI4 30731 270 8.95 10 Endoplasmic reticulum;Cytosol;Secreted;Nucleus NA 0 PE1 -NX_Q9BQI5 89109 828 8.39 1 Cytoplasm;Mitochondrion;Clathrin-coated pit NA 0 PE1 -NX_Q9BQI6 121050 1058 8.7 5 Nucleus;Cytoplasm;Centrosome;Nucleus NA 0 PE1 -NX_Q9BQI7 84660 771 5.04 5 Ruffle membrane;Cell membrane;Cleavage furrow NA 1 PE1 -NX_Q9BQI9 31331 281 8.75 12 Nucleus NA 0 PE1 -NX_Q9BQJ4 19998 181 6.26 X Cell membrane;Membrane;Adherens junction;Nucleus membrane NA 4 PE1 -NX_Q9BQK8 93614 851 5.35 20 Nucleus;Cytosol NA 0 PE1 -NX_Q9BQL6 77437 677 5.91 20 Ruffle membrane;Focal adhesion;Cytoskeleton Kindler syndrome 0 PE1 -NX_Q9BQM9 17214 153 11.47 20 NA NA 0 PE1 -NX_Q9BQN1 81078 747 8.28 20 NA NA 0 PE1 -NX_Q9BQP7 39421 344 7.58 20 Mitochondrion;Mitochondrion Mitochondrial DNA depletion syndrome 11 0 PE1 -NX_Q9BQP9 28436 254 6.17 20 Secreted NA 0 PE1 -NX_Q9BQQ3 46482 440 4.42 3 cis-Golgi network membrane;Golgi apparatus NA 0 PE1 -NX_Q9BQQ7 27031 232 8.97 3 Mitochondrion;Membrane NA 1 PE1 -NX_Q9BQR3 31940 290 8.47 16 Secreted NA 0 PE1 -NX_Q9BQS2 47375 421 7.12 10 Cell membrane;Golgi apparatus NA 1 PE1 -NX_Q9BQS6 17486 159 9.16 17 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BQS7 130449 1158 5.61 X Membrane NA 1 PE1 -NX_Q9BQS8 166983 1478 4.86 3 Autophagosome;Lysosome;Cytoplasmic vesicle;Endosome Cataract 18 0 PE1 -NX_Q9BQT8 33303 299 9.53 14 Mitochondrion inner membrane NA 6 PE1 -NX_Q9BQT9 106098 956 5.24 12 Cell membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane NA 1 PE1 -NX_Q9BQW3 64473 602 8.9 20 Nucleus NA 0 PE2 -NX_Q9BQY4 31692 288 4.53 X Nucleus NA 0 PE1 -NX_Q9BQY6 14626 131 8.64 20 Secreted NA 0 PE2 -NX_Q9BQY9 27671 259 4.45 20 Cytoplasm;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9BR01 33085 284 5.42 22 Cytoplasm NA 0 PE1 -NX_Q9BR09 31690 285 7.76 20 Cytoplasm;Cytoplasmic vesicle NA 0 PE2 -NX_Q9BR10 23834 227 8.59 20 Membrane;Golgi apparatus NA 1 PE1 -NX_Q9BR11 55071 485 7.05 20 Cytosol;Cell membrane NA 0 PE1 -NX_Q9BR26 61579 566 8.88 20 Membrane NA 6 PE2 -NX_Q9BR39 74222 696 8.82 20 Cell membrane;Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane Cardiomyopathy, familial hypertrophic 17 1 PE1 -NX_Q9BR46 17183 151 8.93 20 NA NA 0 PE4 -NX_Q9BR61 31151 282 5 1 Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9BR76 54235 489 5.6 11 Cell membrane;Cytoskeleton;Cytosol NA 0 PE1 -NX_Q9BR77 57486 488 8.91 12 Nucleus membrane NA 0 PE1 -NX_Q9BR84 62318 538 8.9 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9BRA0 13514 125 5.37 17 Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BRA2 13941 123 5.4 17 Cytoplasm NA 0 PE1 -NX_Q9BRB3 84082 760 8.37 16 Golgi apparatus;Nucleoplasm;Membrane;Cytoplasmic vesicle NA 5 PE1 -NX_Q9BRC7 87585 762 5.08 2 Endoplasmic reticulum;Nucleus membrane;Cell membrane;Cytosol;Membrane;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9BRD0 70521 619 9.86 11 Nucleus NA 0 PE1 -NX_Q9BRF8 35548 314 5.79 16 Cytoplasm;Cell membrane;Cytosol NA 0 PE1 -NX_Q9BRG1 20748 176 5.97 17 Cytoplasm;Endosome membrane;Nucleoplasm;Centrosome NA 0 PE1 -NX_Q9BRG2 63093 576 7.03 19 Nucleoplasm;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q9BRH9 75763 671 9.36 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BRI3 35178 323 5.7 1 Vacuole membrane;Lysosome membrane;Cytoplasmic vesicle Zinc deficiency, transient neonatal 5 PE1 -NX_Q9BRJ2 35351 306 9.14 17 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9BRJ6 22083 194 9.65 7 Nucleolus;Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q9BRJ7 23338 211 9.07 16 Nucleus;Cytosol;Cell membrane NA 0 PE1 -NX_Q9BRJ9 28501 268 9.26 15 Nucleus;Nucleolus;Nucleus NA 0 PE2 -NX_Q9BRK0 28261 252 9.54 5 Membrane Spastic paraplegia 72 2 PE1 -NX_Q9BRK3 49132 442 6.75 1 Membrane;Nucleolus NA 1 PE1 -NX_Q9BRK4 72759 669 6.13 10 Cell membrane;Centrosome;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9BRK5 41807 362 4.76 1 Cell membrane;Bleb;Golgi apparatus;Golgi apparatus lumen;Cytoplasm NA 0 PE1 -NX_Q9BRL6 32288 282 11.72 11 Nucleus NA 0 PE1 -NX_Q9BRL7 34269 303 5.91 3 Golgi apparatus;Endoplasmic reticulum membrane NA 4 PE1 -NX_Q9BRN9 27118 247 8.43 15 Cytosol;Membrane;Nucleoplasm NA 2 PE1 -NX_Q9BRP0 30438 275 9.02 20 Cytosol;Nucleoplasm;Nucleus Corneal dystrophy, posterior polymorphous, 1 0 PE1 -NX_Q9BRP1 39417 358 4.71 19 Mitochondrion NA 0 PE1 -NX_Q9BRP4 42190 392 5.92 11 Nucleus;Cytosol NA 0 PE1 -NX_Q9BRP7 70416 624 6.29 11 Cytosol;Nucleus NA 0 PE1 -NX_Q9BRP8 22656 204 9.45 12 Nucleus;Nucleolus;Cell junction;Cytoplasm;Nucleolus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9BRP9 15625 147 9.02 11 NA NA 0 PE5 -NX_Q9BRQ0 41244 406 6.89 1 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9BRQ3 32580 303 4.99 11 Nucleoplasm NA 0 PE1 -NX_Q9BRQ4 30859 267 6.39 11 Centrosome NA 0 PE1 -NX_Q9BRQ5 31499 295 7.21 16 Membrane;Nucleoplasm;Cytosol NA 4 PE1 -NX_Q9BRQ6 26458 235 9.01 3 Cytoplasm;Nucleus;Mitochondrion;Mitochondrion inner membrane;Mitochondrion NA 0 PE1 -NX_Q9BRQ8 40527 373 9.16 10 Cytoplasm;Mitochondrion outer membrane;Membrane;Cytosol NA 1 PE1 -NX_Q9BRR0 60641 538 5.98 6 Nucleus;Cytoplasm NA 0 PE1 -NX_Q9BRR3 46588 403 7.27 9 Mitochondrion;Membrane NA 3 PE1 -NX_Q9BRR6 54089 497 5.77 15 Nucleus;Cytoplasm;Centrosome;Secreted NA 0 PE1 -NX_Q9BRR8 103345 931 6.59 19 Cell membrane;Nucleoplasm;Cell junction NA 0 PE1 -NX_Q9BRR9 83260 750 8.65 12 NA NA 0 PE1 -NX_Q9BRS2 65583 568 5.84 6 Cytosol;Cytoplasm;Nucleus speckle;Nucleolus NA 0 PE1 -NX_Q9BRS8 54737 491 8.4 15 Cytoplasm;Cytoskeleton;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9BRT2 14875 126 6.84 6 Mitochondrion;Nucleus;Mitochondrion inner membrane;Mitochondrion matrix;Mitochondrion intermembrane space;Mitochondrion;Mitochondrion nucleoid Mitochondrial complex III deficiency, nuclear 7 0 PE1 -NX_Q9BRT3 12403 115 4.4 17 Cytosol;Cell membrane NA 0 PE1 -NX_Q9BRT6 15225 129 10.38 12 Nucleolus;Chromosome;Nucleolus NA 0 PE1 -NX_Q9BRT7 10958 94 10.65 1 NA NA 0 PE5 -NX_Q9BRT8 44068 395 4.76 9 NA NA 0 PE1 -NX_Q9BRT9 26047 223 4.94 8 Centrosome;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BRU2 12324 100 8.46 X Nucleus;Nucleus NA 0 PE2 -NX_Q9BRU9 28402 249 10.08 8 Nucleolus;Nucleolus NA 0 PE1 -NX_Q9BRV3 25030 221 8.8 1 Cell membrane;Golgi apparatus membrane NA 7 PE1 -NX_Q9BRV8 23721 207 5.09 1 Cytoplasmic vesicle;Cytoplasm;Focal adhesion NA 0 PE1 -NX_Q9BRX2 43359 385 5.93 5 Nucleolus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9BRX5 24535 216 5.21 16 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9BRX8 25764 229 8.92 10 Cytoplasm;Secreted NA 0 PE1 -NX_Q9BRX9 34343 315 5.36 19 Cytoplasm;Nucleus;Centrosome;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9BRY0 33601 314 6.39 19 Cytoplasmic vesicle;Membrane NA 8 PE1 -NX_Q9BRZ2 81488 755 8.02 7 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9BS16 31655 269 4.83 5 Nucleus;Centromere;Kinetochore NA 0 PE1 -NX_Q9BS18 8521 74 4.04 3 Nucleus;Cytosol;Mitochondrion NA 0 PE1 -NX_Q9BS26 46971 406 5.09 9 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q9BS31 57683 505 9.03 19 Nucleus;Nucleus NA 0 PE1 -NX_Q9BS34 44603 389 8.8 1 Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_Q9BS40 25750 222 5.54 3 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9BS86 40142 351 9.42 7 Secreted;Acrosome membrane NA 0 PE1 -NX_Q9BS91 48500 424 8.55 3 Membrane;Golgi apparatus NA 10 PE1 -NX_Q9BS92 28313 247 9.32 9 NA NA 0 PE1 -NX_Q9BSA4 58772 534 5.48 17 Cell membrane NA 5 PE1 -NX_Q9BSA9 55615 504 7.61 4 Endosome membrane;Lysosome membrane;Nucleus;Nucleus membrane Parkinson disease 12 PE1 -NX_Q9BSB4 25003 218 5.81 12 Cytoplasm;Preautophagosomal structure NA 0 PE1 -NX_Q9BSC4 80302 688 8.64 2 Nucleolus;Nucleolus NA 0 PE1 -NX_Q9BSD3 26709 238 9.69 12 Nucleus;Chromosome NA 0 PE1 -NX_Q9BSD7 20713 190 9.61 1 Cytosol NA 0 PE1 -NX_Q9BSE2 43520 394 4.87 1 Nucleolus;Lysosome;trans-Golgi network;Membrane NA 5 PE1 -NX_Q9BSE4 45147 406 4.93 7 Nucleolus;Membrane NA 1 PE1 -NX_Q9BSE5 37660 352 7.54 1 Mitochondrion NA 0 PE1 -NX_Q9BSF0 10970 95 4.84 2 Cell membrane NA 0 PE1 -NX_Q9BSF4 29233 260 8.29 19 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion NA 1 PE1 -NX_Q9BSF8 53779 475 7.65 11 Nucleus;Nucleus;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q9BSG0 21042 188 5.23 2 Secreted NA 0 PE1 -NX_Q9BSG1 48863 426 8.91 2 Nucleus;Nucleoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_Q9BSG5 24615 229 8.59 19 Interphotoreceptor matrix;Endoplasmic reticulum;Cell membrane NA 0 PE1 -NX_Q9BSH3 24202 213 6.59 3 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9BSH4 32477 297 8.37 17 Mitochondrion;Mitochondrion Leigh syndrome 0 PE1 -NX_Q9BSH5 28000 251 6.21 9 Nucleolus NA 0 PE1 -NX_Q9BSI4 50023 451 8.2 14 Nucleus;Telomere;Nucleus matrix;Nucleus Dyskeratosis congenita, autosomal dominant, 3;Dyskeratosis congenita, autosomal dominant, 5 0 PE1 -NX_Q9BSJ1 52285 452 5.72 11 NA NA 0 PE2 -NX_Q9BSJ2 102534 902 6.38 10 Nucleoplasm;Centrosome;Centrosome NA 0 PE1 -NX_Q9BSJ5 67315 609 9.3 17 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 1 PE1 -NX_Q9BSJ6 27480 248 10.22 17 Nucleolus;Nucleus;Nucleus;Nucleolus;Cytosol NA 0 PE1 -NX_Q9BSJ8 122856 1104 5.57 12 Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane;Endoplasmic reticulum membrane NA 2 PE1 -NX_Q9BSK0 18914 173 9.69 10 Cell membrane;Cytoskeleton;Nucleus NA 4 PE1 -NX_Q9BSK1 54939 485 9.39 19 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q9BSK2 35375 321 9.65 1 Mitochondrion inner membrane NA 6 PE1 -NX_Q9BSK4 73639 669 5.71 19 Cytosol;Nucleus;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q9BSL1 45338 405 4.82 9 Cytosol;Golgi apparatus;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q9BSM1 30346 259 9.14 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BSN7 24540 226 8.1 16 Adherens junction;Cell membrane NA 4 PE2 -NX_Q9BSQ5 48837 444 5.32 7 Mitochondrion;Cytoplasm Cerebral cavernous malformations 2 0 PE1 -NX_Q9BSR8 27083 244 4.5 2 Endoplasmic reticulum;cis-Golgi network membrane;Golgi apparatus;Cell membrane;Cytoplasmic vesicle NA 5 PE1 -NX_Q9BST9 62667 563 7.18 2 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q9BSU1 47524 422 7.64 16 Nucleus speckle;Cytosol NA 0 PE1 -NX_Q9BSU3 25979 229 5.05 4 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BSV6 33652 310 8.53 19 Nucleus;Nucleus;Nucleolus Pontocerebellar hypoplasia 2C 0 PE1 -NX_Q9BSW2 45592 395 4.95 12 Cytoplasm NA 0 PE1 -NX_Q9BSW7 53849 474 7.23 16 Cytosol;Membrane;Nucleus NA 0 PE1 -NX_Q9BSY4 12395 110 6.28 2 Mitochondrion;Mitochondrion intermembrane space NA 0 PE1 -NX_Q9BSY9 21444 194 4.86 1 Cytoplasm;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q9BT04 45679 418 5.9 19 Cytosol;Cilium basal body;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q9BT09 30748 278 5.36 6 Endoplasmic reticulum NA 0 PE1 -NX_Q9BT17 37237 334 9.54 10 Mitochondrion inner membrane;Mitochondrion NA 0 PE1 -NX_Q9BT22 52518 464 6.8 16 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1K 1 PE1 -NX_Q9BT23 14070 127 9.23 17 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BT25 44857 410 6.6 19 Spindle pole;Spindle;Centrosome;Cytoplasm NA 0 PE1 -NX_Q9BT30 24516 221 6.61 19 Mitochondrion matrix NA 0 PE1 -NX_Q9BT40 51090 448 6.07 17 Endoplasmic reticulum Muscular dystrophy, congenital, with cataracts and intellectual disability 0 PE1 -NX_Q9BT43 25334 218 4.49 1 Nucleus;Golgi apparatus;Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9BT49 34414 309 9.54 22 Cytoplasmic vesicle;Chromosome;Nucleus;Nucleus NA 0 PE1 -NX_Q9BT56 13302 116 9.73 12 Secreted;Extracellular space;Secretory vesicle NA 0 PE1 -NX_Q9BT67 24899 221 4.55 5 Endosome membrane;Golgi apparatus membrane;Synaptosome;Secreted;Dendrite NA 3 PE1 -NX_Q9BT73 13104 122 7.72 7 Cytoplasm NA 0 PE1 -NX_Q9BT76 33882 320 6.33 7 Cytosol;Nucleus;Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_Q9BT78 46269 406 5.57 4 Synaptic vesicle;Nucleus;Cytoplasm;Nucleus speckle NA 0 PE1 -NX_Q9BT81 42197 388 6.2 8 Nucleus;Golgi apparatus;Cytoplasm;Nucleus speckle NA 0 PE1 -NX_Q9BT88 48297 431 9.15 1 Synapse;Synaptic vesicle membrane;Membrane NA 1 PE1 -NX_Q9BT92 61072 498 6.2 12 Cytosol;Cytoskeleton;Cytoplasm;Cell membrane;Mitochondrion;Desmosome;Cell membrane;Centrosome NA 0 PE1 -NX_Q9BTA0 18414 163 5.28 1 Cytoskeleton NA 0 PE1 -NX_Q9BTA9 70724 647 9.49 10 Nucleoplasm;Nucleus speckle;Nucleus DeSanto-Shinawi syndrome 0 PE1 -NX_Q9BTC0 243873 2240 8.09 20 Nucleoplasm;Cytoplasmic vesicle;Spindle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9BTC8 67504 594 8.8 2 Cytoplasmic vesicle;Nucleus;Nucleus NA 0 PE1 -NX_Q9BTD1 13317 123 9.49 11 NA NA 0 PE5 -NX_Q9BTD3 35814 319 9.39 14 Cytosol;Membrane NA 7 PE2 -NX_Q9BTD8 50414 480 9.65 19 Nucleus;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BTE0 23361 207 4.67 17 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9BTE1 20127 182 8.32 16 Nucleoplasm;Nucleus membrane;Cytoskeleton;Kinetochore NA 0 PE1 -NX_Q9BTE3 72980 642 5.56 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BTE6 45480 412 6 17 Cytosol;Nucleus membrane;Cytoplasm NA 0 PE1 -NX_Q9BTE7 27508 237 5.44 11 Nucleus;Nucleolus NA 0 PE1 -NX_Q9BTF0 56433 503 7.92 2 Nucleoplasm NA 0 PE1 -NX_Q9BTK2 4916 45 11.19 X NA NA 0 PE5 -NX_Q9BTK6 27716 254 4.4 16 Nucleus NA 0 PE1 -NX_Q9BTL3 14381 118 8.89 15 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BTL4 24196 223 6.46 19 Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9BTM1 14019 129 10.9 12 Nucleus;Chromosome NA 0 PE1 -NX_Q9BTM9 11380 101 4.54 9 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9BTN0 66260 628 6.88 19 Synapse;Dendrite;Axon;Cell membrane;Presynaptic cell membrane;Postsynaptic cell membrane NA 1 PE1 -NX_Q9BTP6 25122 218 6.57 3 Mitochondrion;Nucleus;Cytosol NA 0 PE1 -NX_Q9BTP7 23897 215 9.28 19 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9BTT0 30692 268 3.77 1 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BTT4 15688 135 5.82 5 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9BTT6 59242 524 4.94 6 Cytosol;Cytoplasm;Membrane NA 0 PE1 -NX_Q9BTU6 54022 479 8.51 10 Cell membrane;trans-Golgi network membrane;Membrane raft;Dendrite;Presynaptic cell membrane;Synaptosome;Mitochondrion;Endosome;Cell membrane;Cytoplasmic vesicle;Membrane NA 0 PE1 -NX_Q9BTV4 44876 400 7.86 3 Golgi apparatus;Endoplasmic reticulum;Nucleus inner membrane Arrhythmogenic right ventricular dysplasia, familial, 5;Emery-Dreifuss muscular dystrophy 7, autosomal dominant 4 PE1 -NX_Q9BTV5 55820 496 6.54 19 Centrosome;Cleavage furrow;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9BTV6 50575 452 6.11 9 Nucleus NA 0 PE1 -NX_Q9BTV7 52235 478 9.84 20 Nucleus;Cell junction NA 0 PE1 -NX_Q9BTW9 132600 1192 5.8 17 Centrosome;Tight junction;Lateral cell membrane;Cytoplasm;Adherens junction Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 0 PE1 -NX_Q9BTX1 76305 674 9.22 1 Cytoskeleton;Nucleus membrane;Nucleus membrane;Cell membrane;Nuclear pore complex NA 6 PE1 -NX_Q9BTX3 19642 173 9.33 16 Endoplasmic reticulum membrane NA 3 PE1 -NX_Q9BTX7 38515 342 6.03 20 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q9BTY2 54067 467 5.84 6 Secreted NA 0 PE1 -NX_Q9BTY7 42129 390 4.73 8 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BTZ2 29537 278 8.81 14 Peroxisome;Nucleus NA 0 PE1 -NX_Q9BU02 25566 230 4.75 14 Nucleolus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9BU19 56968 519 7.54 1 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9BU20 28498 258 7.06 1 Cilium basal body;Nucleoplasm NA 0 PE1 -NX_Q9BU23 79698 707 10.1 22 Endoplasmic reticulum;Endoplasmic reticulum membrane;Centrosome NA 11 PE1 -NX_Q9BU40 51168 450 8.52 X Secreted Megalocornea 1, X-linked 0 PE1 -NX_Q9BU61 20350 184 8.48 3 Nucleus;Mitochondrion inner membrane Mitochondrial complex I deficiency 0 PE1 -NX_Q9BU64 33786 300 7.63 2 Nucleus;Kinetochore;Centromere;Nucleus NA 0 PE1 -NX_Q9BU68 11705 103 9.49 17 Cytosol NA 0 PE1 -NX_Q9BU70 48587 441 6.74 9 Nucleoplasm NA 0 PE1 -NX_Q9BU76 29412 263 10.03 1 Nucleus speckle;Cell membrane;Cytosol NA 0 PE1 -NX_Q9BU79 13391 118 8.4 7 Membrane NA 3 PE1 -NX_Q9BU89 32904 302 4.74 19 Nucleus;Cytosol NA 0 PE1 -NX_Q9BUA3 41037 381 4.92 11 Nucleus speckle NA 0 PE1 -NX_Q9BUA6 25308 226 5.56 7 Mitochondrion NA 0 PE1 -NX_Q9BUB4 55392 502 9.2 16 Nucleoplasm NA 0 PE1 -NX_Q9BUB5 51342 465 6.26 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BUB7 28969 260 9.02 8 Mitochondrion inner membrane;Nucleoplasm;Mitochondrion Mitochondrial complex V deficiency, nuclear 2 2 PE1 -NX_Q9BUD6 35846 331 5.35 4 Extracellular matrix;Cytoplasmic vesicle NA 0 PE1 -NX_Q9BUE0 23663 208 6.06 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BUE6 14179 129 9.19 9 Mitochondrion Multiple mitochondrial dysfunctions syndrome 5 0 PE1 -NX_Q9BUF5 49857 446 4.77 18 Cytoskeleton NA 0 PE1 -NX_Q9BUF7 12854 120 9.96 19 Tight junction;Apical cell membrane;Cell junction NA 1 PE1 -NX_Q9BUG6 55865 496 8.7 19 Nucleus NA 0 PE1 -NX_Q9BUH6 21640 204 5.39 9 Nucleus;Nucleus NA 0 PE1 -NX_Q9BUH8 64803 593 5.4 14 Cytoplasm;Nucleus;Golgi apparatus;Cytosol;Membrane NA 0 PE1 -NX_Q9BUI4 60612 534 6.88 1 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9BUJ0 29765 271 8.74 3 Endoplasmic reticulum;Cytoplasm;Membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q9BUJ2 95739 856 6.49 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BUK0 10095 85 9.1 8 Mitochondrion intermembrane space;Cell junction NA 0 PE1 -NX_Q9BUK6 61835 570 5.7 1 Nucleus;Cytoplasm;Cytosol;Mitochondrion outer membrane;Nucleus membrane NA 0 PE1 -NX_Q9BUL5 43818 403 5.62 17 Nucleus;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9BUL8 24702 212 7.8 3 Cell membrane;Golgi apparatus membrane;Cytoplasm Cerebral cavernous malformations 3 0 PE1 -NX_Q9BUL9 20632 199 9.66 15 Nucleoplasm;Microtubule organizing center;Nucleus NA 0 PE1 -NX_Q9BUM1 38735 346 8.47 17 Endoplasmic reticulum;Endoplasmic reticulum membrane Dursun syndrome;Neutropenia, severe congenital 4, autosomal recessive 9 PE1 -NX_Q9BUN1 36769 341 8.96 1 Secreted NA 0 PE1 -NX_Q9BUN5 22037 200 5.23 1 Centrosome Bardet-Biedl syndrome 0 PE1 -NX_Q9BUN8 28801 251 9.54 8 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 4 PE1 -NX_Q9BUP0 26928 239 5.34 2 Golgi apparatus;Nucleolus;Mitochondrion inner membrane NA 0 PE1 -NX_Q9BUP3 27049 242 8.58 11 Cytoplasm;Cytosol;Nucleus envelope NA 0 PE1 -NX_Q9BUQ8 95583 820 9.58 12 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q9BUR4 59309 548 4.46 17 Nucleoplasm;Cytoplasm;Cajal body;Cytosol;Nucleus Dyskeratosis congenita, autosomal recessive, 3 0 PE1 -NX_Q9BUR5 22285 198 9.18 X Cytosol;Mitochondrion;Mitochondrion inner membrane;Secreted;Mitochondrion;Golgi apparatus membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9BUT1 26724 245 7.56 4 Cytoplasm;Cytosol NA 0 PE1 -NX_Q9BUT9 17828 160 9.5 16 Nucleus;Cytoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BUU2 44486 404 4.9 16 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q9BUV0 33613 290 11.76 1 Nucleoplasm NA 0 PE1 -NX_Q9BUV8 15487 137 5.06 20 Cytosol NA 0 PE1 -NX_Q9BUW7 9054 83 4.13 9 Cytoskeleton NA 0 PE1 -NX_Q9BUX1 28747 264 5.96 15 Cytosol;trans-Golgi network;Mitochondrion NA 0 PE1 -NX_Q9BUY5 63106 554 7.96 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BUY7 19225 163 8.59 14 Cell junction;Cytosol NA 0 PE1 -NX_Q9BUZ4 53543 470 8.54 17 Cytoplasm;Tight junction;Nucleus;Perinuclear region;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9BV10 54655 488 9.63 22 Endoplasmic reticulum;Endoplasmic reticulum membrane Congenital disorder of glycosylation 1G 12 PE1 -NX_Q9BV19 21877 199 5.54 1 NA NA 0 PE1 -NX_Q9BV20 39150 369 5.89 19 Cytoplasm;Cytosol;Nucleoplasm;Nucleolus;Cell projection;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BV23 38331 337 8.67 3 Membrane;Nucleoplasm;Mitochondrion;Cytoplasmic vesicle NA 1 PE1 -NX_Q9BV29 20656 185 4.42 15 Cytoplasmic vesicle;Nucleus speckle NA 0 PE1 -NX_Q9BV35 52378 468 6.85 19 Mitochondrion inner membrane;Mitochondrion NA 6 PE1 -NX_Q9BV36 65949 600 5.73 2 Cytoplasm Griscelli syndrome 3 0 PE1 -NX_Q9BV38 47405 432 6.21 19 Nucleoplasm;Nucleolus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9BV40 11438 100 6.73 2 Late endosome membrane;Lysosome membrane;Early endosome membrane;Cell membrane NA 1 PE1 -NX_Q9BV44 57003 507 5.97 3 Cytosol;Nucleolus NA 0 PE1 -NX_Q9BV47 23946 211 9.66 8 Nucleus;Golgi apparatus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9BV57 21498 179 5.43 2 Nucleoplasm;Cell membrane;Nucleus;Golgi apparatus;Cytoplasm NA 0 PE1 -NX_Q9BV68 35585 326 5.44 19 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BV73 281137 2442 5 20 Centriole;Centrosome;Perinuclear region;Cilium basal body NA 0 PE1 -NX_Q9BV79 40462 373 8.99 1 Mitochondrion;Cytoplasm;Mitochondrion;Nucleus Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 PE1 -NX_Q9BV81 12017 110 10.08 17 Membrane;Nucleus;Centrosome NA 2 PE1 -NX_Q9BV86 25387 223 5.32 9 Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9BV87 45456 410 5.47 2 Membrane NA 1 PE2 -NX_Q9BV90 15270 132 7.75 16 Cytosol;Nucleus;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q9BV94 64753 578 5.16 20 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q9BV97 20610 191 10.78 16 NA NA 0 PE1 -NX_Q9BV99 28014 259 4.69 7 Nucleoplasm NA 0 PE2 -NX_Q9BVA0 72334 655 7.51 16 Cytosol;Cytoskeleton;Cytoskeleton;Cytoplasm;Centrosome;Spindle pole;Spindle;Cell membrane Lissencephaly 6, with microcephaly 0 PE1 -NX_Q9BVA1 49953 445 4.78 6 Cytoskeleton Fetal akinesia deformation sequence;Cortical dysplasia, complex, with other brain malformations 7 0 PE1 -NX_Q9BVA6 51778 458 7.31 12 Nucleus;Membrane NA 1 PE1 -NX_Q9BVC3 44825 393 5.05 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BVC4 35876 326 5.5 16 Nucleoplasm;Golgi apparatus;Cytoplasm;Cell junction NA 0 PE1 -NX_Q9BVC5 25858 232 9.76 2 Cytoplasm;Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q9BVC6 26210 243 10.48 11 Cytosol;Sarcoplasmic reticulum membrane;Nucleus membrane;Nucleus outer membrane;Endoplasmic reticulum membrane NA 3 PE1 -NX_Q9BVG3 54268 475 6.17 1 Cytoplasmic vesicle;Focal adhesion;Cytoplasm NA 0 PE1 -NX_Q9BVG4 26057 233 4.72 X Cytoplasm;Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q9BVG8 92775 833 7.62 16 Adherens junction;Centrosome;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q9BVG9 56253 487 5.86 11 Endoplasmic reticulum membrane NA 7 PE1 -NX_Q9BVH7 38443 336 9.56 1 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 -NX_Q9BVI0 115386 1012 6.55 20 Nucleus;Nucleus membrane;Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9BVI4 58468 516 7.08 12 Nucleus;Nucleus membrane;Nucleolus;Nucleolus NA 3 PE1 -NX_Q9BVJ6 87978 771 7.67 X Nucleolus NA 0 PE1 -NX_Q9BVJ7 16588 150 8.44 1 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9BVK2 60088 526 9.28 11 Endoplasmic reticulum membrane;Nucleoplasm Congenital disorder of glycosylation 1H 11 PE1 -NX_Q9BVK6 27277 235 7.81 5 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;trans-Golgi network membrane NA 1 PE1 -NX_Q9BVK8 25261 224 7.61 19 Golgi apparatus;Endoplasmic reticulum membrane;Cytosol;Cytoskeleton NA 6 PE1 -NX_Q9BVL2 60897 599 9.36 13 Nuclear pore complex;Nucleus membrane;Cell membrane;Nucleus membrane;Mitochondrion;Cytosol NA 0 PE1 -NX_Q9BVL4 73489 669 5.69 22 Mitochondrion NA 0 PE1 -NX_Q9BVM2 23240 203 9.11 10 Nucleus speckle NA 0 PE1 -NX_Q9BVM4 17329 153 6.37 13 NA NA 0 PE1 -NX_Q9BVN2 96444 902 5.9 1 Nucleus;Cytoplasm;Cytosol;Cytoskeleton;Cytoplasmic vesicle;Early endosome;Postsynaptic density;Golgi apparatus NA 0 PE1 -NX_Q9BVP2 61993 549 9.23 3 Nucleus;Nucleus;Nucleolus;Nucleolus NA 0 PE1 -NX_Q9BVQ7 80710 753 8.42 15 Cytoplasm;Nucleus;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q9BVR0 128943 1158 6.45 15 NA NA 0 PE5 -NX_Q9BVS4 63283 552 5.66 5 Cell membrane;Cytosol;Cytoplasm NA 0 PE1 -NX_Q9BVS5 52965 477 6.17 2 Cytosol;Mitochondrion NA 0 PE1 -NX_Q9BVT8 26261 246 5.44 7 Cytosol;Nucleoplasm;Postsynaptic cell membrane;Recycling endosome;Cytoplasm;Membrane;Nucleus;Nucleolus;Cytoplasm;Centrosome;Nucleolus;Nucleus NA 3 PE1 -NX_Q9BVV2 36526 318 8.82 20 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9BVV6 169307 1533 5.37 14 Centrosome;Cytosol;Nucleoplasm;Cilium basal body;Photoreceptor inner segment;Centriole Joubert syndrome 23;Short-rib thoracic dysplasia 14 with polydactyly 0 PE1 -NX_Q9BVV7 28202 248 9.73 18 Mitochondrion membrane;Nucleoplasm NA 1 PE1 -NX_Q9BVV8 14249 132 9.23 19 Membrane;Nucleus speckle;Golgi apparatus NA 1 PE1 -NX_Q9BVW5 34555 301 4.73 15 Nucleus;Nucleus;Nucleus;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9BVW6 9520 85 5.19 13 Membrane NA 1 PE1 -NX_Q9BVX2 27875 250 6.3 12 Endoplasmic reticulum membrane;Membrane NA 2 PE1 -NX_Q9BW04 63964 601 8.78 1 Cytoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_Q9BW11 23477 206 9.32 5 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q9BW19 73748 673 9.15 6 Centrosome;Nucleus;Centrosome;Spindle;Early endosome NA 0 PE1 -NX_Q9BW27 75019 656 5.36 17 Nucleus membrane;Cytosol;Nucleus;Nuclear pore complex;Kinetochore;Spindle;Cytoplasm NA 0 PE1 -NX_Q9BW30 18985 176 9.19 16 Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q9BW60 32663 279 9.62 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA 7 PE1 -NX_Q9BW61 11835 102 8.73 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q9BW62 55392 490 6.35 13 Cytosol;Cytoplasm;Spindle pole;Spindle;Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q9BW66 24324 212 5.87 14 Nucleus NA 0 PE1 -NX_Q9BW71 61957 556 8.71 16 Nucleus;Nucleus NA 0 PE1 -NX_Q9BW72 11529 106 10.21 5 Mitochondrion inner membrane;Mitochondrion membrane NA 2 PE1 -NX_Q9BW83 20480 186 5.28 22 Cilium;Nucleoplasm;Mitochondrion Bardet-Biedl syndrome 19 0 PE1 -NX_Q9BW85 37086 323 5.75 19 Nucleoplasm NA 0 PE1 -NX_Q9BW91 39125 350 8.26 4 Mitochondrion;Nucleus membrane;Cell junction;Mitochondrion NA 0 PE1 -NX_Q9BW92 81036 718 6.9 1 Cytosol;Nucleoplasm;Cytoskeleton;Mitochondrion matrix Combined oxidative phosphorylation deficiency 21 0 PE1 -NX_Q9BWC9 32032 280 9.47 19 Nucleus;Nucleus;Cytosol NA 0 PE1 -NX_Q9BWD1 41351 397 6.47 6 Cytoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9BWD3 13188 113 4.94 X NA NA 0 PE1 -NX_Q9BWE0 63575 567 10.05 7 Nucleus;Nucleus NA 0 PE1 -NX_Q9BWF2 53294 469 8.75 3 Cell membrane;Nucleus;Nucleolus;Perinuclear region;Cytoplasm;Cytosol Seckel syndrome 9 0 PE1 -NX_Q9BWF3 40314 364 6.61 11 Nucleus speckle;Cytoplasm;Cytoplasmic granule;Nucleus;Nucleolus NA 0 PE1 -NX_Q9BWG4 39388 385 6.3 19 Nucleus NA 0 PE1 -NX_Q9BWG6 25949 230 9.03 1 Nucleus;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9BWH2 20676 189 9.74 X Mitochondrion NA 0 PE1 -NX_Q9BWH6 152755 1393 5.95 15 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9BWJ2 6658 59 6.1 8 NA NA 0 PE5 -NX_Q9BWJ5 10135 86 5.89 6 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9BWK5 16829 157 5.16 7 Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9BWL3 28779 253 9.61 1 Membrane NA 1 PE1 -NX_Q9BWM5 67188 594 8.33 19 Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_Q9BWM7 35503 321 9.26 10 Mitochondrion;Mitochondrion membrane NA 4 PE1 -NX_Q9BWN1 64328 585 10.35 16 Chromosome;Nucleus;Nucleus lamina;Nucleoplasm;Nucleoplasm NA 0 PE1 -NX_Q9BWP8 28665 271 5.26 2 Secreted 3MC syndrome 2 0 PE1 -NX_Q9BWQ6 35151 316 5.43 19 Golgi apparatus;Golgi apparatus;cis-Golgi network membrane;trans-Golgi network membrane;Late endosome membrane;Mitochondrion NA 5 PE1 -NX_Q9BWQ8 35110 316 6.06 12 Cytoskeleton;Membrane raft;Postsynaptic cell membrane;Cell membrane NA 7 PE1 -NX_Q9BWS9 44941 393 8.74 11 Nucleoplasm;Secreted;Lysosome;Cytoskeleton NA 0 PE1 -NX_Q9BWT1 42573 371 9.57 2 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Immunodeficiency-centromeric instability-facial anomalies syndrome 3 0 PE1 -NX_Q9BWT3 82803 736 9.21 2 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9BWT6 23753 205 8.28 4 Nucleus NA 0 PE1 -NX_Q9BWT7 115931 1032 5.74 22 Cytosol;Cytoskeleton;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9BWU0 88814 796 5.11 2 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BWU1 56802 502 8.66 6 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9BWV1 121059 1114 6.58 3 Cell membrane;Cell membrane;Nucleoplasm NA 1 PE1 -NX_Q9BWV2 28740 254 9.53 5 Mitochondrion;Membrane NA 1 PE1 -NX_Q9BWV3 58455 514 8.34 13 Nucleoplasm NA 0 PE1 -NX_Q9BWV7 67336 592 9 6 Nucleus membrane;Nucleolus NA 0 PE2 -NX_Q9BWW4 40421 388 6.4 1 Nucleus NA 0 PE1 -NX_Q9BWW7 35570 348 9.56 8 Nucleus;Nucleus NA 0 PE1 -NX_Q9BWW8 38128 343 8.58 22 Cytosol;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9BWW9 47044 433 9.39 22 Cytoplasm NA 0 PE2 -NX_Q9BWX1 43767 381 8.58 3 Nucleoplasm;Golgi apparatus;Nucleus NA 0 PE1 -NX_Q9BWX5 41299 397 9.17 20 Cytosol;Nucleoplasm;Nucleus Tetralogy of Fallot 0 PE1 -NX_Q9BX10 65768 602 8.32 6 Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9BX26 175639 1530 9.01 20 Cytosol;Nucleoplasm;Cell membrane;Nucleus;Chromosome NA 0 PE1 -NX_Q9BX40 42071 385 9.69 20 Nucleolus;Cytoplasmic vesicle NA 0 PE1 -NX_Q9BX46 24776 236 8.52 6 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9BX51 24274 225 5 20 NA NA 0 PE2 -NX_Q9BX59 50183 468 5.12 12 Cell membrane;Endoplasmic reticulum membrane;Microsome membrane;Golgi apparatus membrane NA 1 PE1 -NX_Q9BX63 140878 1249 6.49 17 Nucleus membrane;Nucleus;Nucleus Breast cancer;Fanconi anemia complementation group J 0 PE1 -NX_Q9BX66 142513 1292 6.4 10 Cytoskeleton;Centrosome;Cell membrane;Nucleus;Nucleus matrix;Focal adhesion;Focal adhesion;Cytoskeleton;Cell membrane;Adherens junction NA 0 PE1 -NX_Q9BX67 35020 310 7.53 11 Desmosome;Cell membrane;Golgi apparatus;Extracellular space Hemorrhagic destruction of the brain with subependymal calcification and cataracts 1 PE1 -NX_Q9BX68 17162 163 9.2 9 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9BX69 116468 1037 5.98 5 Focal adhesion;Cytosol NA 0 PE1 -NX_Q9BX70 55931 525 5.63 19 P-body NA 0 PE1 -NX_Q9BX73 22871 214 4.83 8 Membrane;Nucleoplasm;Cytoplasmic vesicle;Cell membrane NA 2 PE1 -NX_Q9BX74 22327 207 6.09 1 Membrane NA 2 PE1 -NX_Q9BX79 73503 667 9.18 15 Nucleus;Cytosol;Cell membrane Microphthalmia, syndromic, 9 9 PE1 -NX_Q9BX82 73009 626 8.88 19 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_Q9BX84 231708 2022 7.86 9 Cell membrane Hypomagnesemia 1 6 PE1 -NX_Q9BX93 21659 195 5.75 10 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q9BX95 49108 441 9.08 14 Nucleus;Cell membrane;Endoplasmic reticulum membrane NA 9 PE1 -NX_Q9BX97 50594 442 9.01 19 Cell membrane;Cytosol;Caveola;Perinuclear region NA 1 PE1 -NX_Q9BXA5 38698 334 9.14 3 Cell membrane NA 7 PE1 -NX_Q9BXA6 30331 273 9.24 19 NA NA 0 PE1 -NX_Q9BXA7 41618 367 7.6 5 Cytoplasm;Acrosome;Flagellum NA 0 PE1 -NX_Q9BXA9 135346 1300 6.56 18 Nucleus NA 0 PE1 -NX_Q9BXB1 104475 951 5.78 11 Microtubule organizing center;Cell membrane Osteoporosis 7 PE1 -NX_Q9BXB4 83643 747 6.6 3 Nucleoplasm;Golgi apparatus;Late endosome membrane;trans-Golgi network membrane NA 0 PE1 -NX_Q9BXB5 83970 764 8.56 3 Golgi apparatus;Cell membrane;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9BXB7 65263 569 9.21 3 Golgi apparatus Spermatogenic failure 6 0 PE1 -NX_Q9BXC0 39295 346 9.14 12 Cell membrane NA 7 PE1 -NX_Q9BXC1 38503 333 8.73 X Cell membrane;Cytoplasmic vesicle NA 7 PE2 -NX_Q9BXC9 79871 721 5.74 16 Cilium membrane;Cytoplasm;Centriolar satellite Retinitis pigmentosa 74;Bardet-Biedl syndrome 2 0 PE1 -NX_Q9BXD5 35163 320 5.4 1 Cytoplasmic vesicle;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q9BXE9 34713 311 9.83 16 Cell membrane NA 7 PE2 -NX_Q9BXF3 164213 1484 6.51 22 Nucleolus;Nucleus NA 0 PE1 -NX_Q9BXF6 70415 653 9.28 2 Cytoplasm;Cytoplasmic vesicle;Recycling endosome membrane;Microtubule organizing center;Early endosome membrane;Golgi apparatus membrane;Secretory vesicle membrane;Mitochondrion membrane NA 0 PE1 -NX_Q9BXF9 56636 490 6.93 17 Flagellum axoneme;Cilium axoneme NA 0 PE1 -NX_Q9BXG8 49445 430 7.21 5 Nucleus;Cytoplasm NA 0 PE1 -NX_Q9BXH1 20532 193 9.09 19 Mitochondrion;Cytosol NA 0 PE1 -NX_Q9BXI2 32580 301 9.22 5 Mitochondrion inner membrane NA 6 PE1 -NX_Q9BXI3 41021 368 6.11 1 Cytoplasm NA 0 PE1 -NX_Q9BXI6 57118 508 8.69 22 Nucleoplasm;Cell membrane;Microvillus NA 0 PE1 -NX_Q9BXI9 28669 259 5.65 22 Secreted;Nucleus NA 0 PE1 -NX_Q9BXJ0 25298 243 6.05 11 Secreted Late-onset retinal degeneration 0 PE1 -NX_Q9BXJ1 31743 281 6.42 17 Nucleus;Cytosol;Secreted NA 0 PE1 -NX_Q9BXJ2 30683 289 5.11 4 Secreted NA 0 PE1 -NX_Q9BXJ3 35256 329 8.38 11 Secreted NA 0 PE1 -NX_Q9BXJ4 26994 246 6.04 5 Golgi apparatus;Secreted NA 0 PE1 -NX_Q9BXJ5 29952 285 9.04 5 Secreted NA 0 PE1 -NX_Q9BXJ7 47754 453 5.76 14 Apical cell membrane;Cell membrane;Endosome;Coated pit Recessive hereditary megaloblastic anemia 1 1 PE1 -NX_Q9BXJ8 40610 343 9.14 7 Nucleus inner membrane NA 5 PE1 -NX_Q9BXJ9 101272 866 7.23 4 Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9BXK1 25431 252 9.95 19 Nucleus;Nucleus NA 0 PE1 -NX_Q9BXK5 52723 485 4.41 22 Mitochondrion membrane;Nucleus;Mitochondrion NA 1 PE1 -NX_Q9BXL5 55341 484 4.82 9 Nucleus NA 0 PE1 -NX_Q9BXL6 113270 1004 5.65 17 Cytoplasm Psoriasis 2;Pityriasis rubra pilaris 0 PE1 -NX_Q9BXL7 133284 1154 5.78 7 Cytoplasm;Membrane raft B-cell expansion with NFKB and T-cell anergy;Immunodeficiency 11B with atopic dermatitis;Immunodeficiency 11 A 0 PE1 -NX_Q9BXL8 26114 241 4.86 14 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9BXM0 154905 1461 7.22 19 Cytoplasmic vesicle;Cell membrane;Golgi apparatus;Cell junction;Cell membrane;Cell membrane;Nucleus;Cytoplasm Charcot-Marie-Tooth disease 4F;Dejerine-Sottas syndrome 0 PE1 -NX_Q9BXM7 62769 581 9.43 1 Cytosol;Mitochondrion outer membrane;Mitochondrion inner membrane Parkinson disease 6 1 PE1 -NX_Q9BXM9 59578 530 5.86 9 Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9BXN1 43417 380 6.61 9 Nucleoplasm;Cytoplasmic vesicle;Extracellular matrix Osteoarthritis 3;Intervertebral disc disease 0 PE1 -NX_Q9BXN2 27627 247 5.21 12 Cell membrane;Nucleoplasm;Cytoplasmic vesicle;Cytoplasm Candidiasis, familial, 4 1 PE1 -NX_Q9BXN6 11029 97 5.87 X Nucleus;Cytoplasm NA 0 PE1 -NX_Q9BXP2 96110 914 8.35 7 Cell membrane NA 12 PE1 -NX_Q9BXP5 100666 876 5.7 7 Nucleoplasm;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9BXP8 198539 1791 5.26 1 Endoplasmic reticulum;Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q9BXQ6 58425 578 9.35 22 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q9BXR0 44048 403 6.82 19 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA 0 PE1 -NX_Q9BXR3 107688 956 9.07 7 NA NA 0 PE2 -NX_Q9BXR5 94564 811 6.32 4 Membrane NA 1 PE1 -NX_Q9BXR6 64419 569 6.81 1 Secreted CFHR5 deficiency 0 PE1 -NX_Q9BXS0 64771 654 8.6 4 Cytosol;Cytoplasmic vesicle;Membrane;Endoplasmic reticulum Fibrosis of extraocular muscles, congenital, 5 1 PE1 -NX_Q9BXS1 26753 227 6.01 10 Peroxisome NA 0 PE1 -NX_Q9BXS4 36223 323 5 1 Cell membrane;Late endosome membrane;Lysosome membrane;Golgi apparatus membrane NA 1 PE1 -NX_Q9BXS5 48587 423 6.82 19 Golgi apparatus;Clathrin-coated vesicle membrane NA 0 PE1 -NX_Q9BXS6 49452 441 9.92 15 Nucleolus;Cytosol;Cytoplasm;Spindle;Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_Q9BXS9 82967 759 8.57 3 Cell membrane;Cytosol;Basolateral cell membrane;Cytoplasmic vesicle membrane;Microsome;Membrane;Apical cell membrane NA 8 PE1 -NX_Q9BXT2 28129 260 9.4 19 Cytosol;Membrane;Nucleolus NA 4 PE2 -NX_Q9BXT4 132024 1180 5.96 10 Cytoplasm NA 0 PE1 -NX_Q9BXT5 315336 2789 5.81 8 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE2 -NX_Q9BXT6 135293 1211 6.07 22 Cytoplasm NA 0 PE1 -NX_Q9BXT8 184643 1623 5.27 13 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BXU0 14107 123 5.22 11 NA NA 0 PE1 -NX_Q9BXU1 115694 1019 5.04 7 NA NA 0 PE1 -NX_Q9BXU2 33967 312 5.79 X NA NA 0 PE1 -NX_Q9BXU3 45583 409 5.36 X NA NA 0 PE1 -NX_Q9BXU7 104047 913 8.91 X Nucleus NA 0 PE1 -NX_Q9BXU8 21142 183 6.05 X NA NA 0 PE1 -NX_Q9BXU9 24837 219 4.76 7 Cell membrane;Perinuclear region;trans-Golgi network membrane;Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_Q9BXV9 10859 100 4.08 14 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9BXW3 6988 62 4.63 1 NA NA 0 PE5 -NX_Q9BXW4 16852 147 9.14 1 Cytosol;Cytoskeleton;Endomembrane system;Autophagosome membrane;Autophagosome NA 0 PE1 -NX_Q9BXW6 108470 950 5.96 18 Cytosol;Nucleoplasm;Late endosome NA 0 PE1 -NX_Q9BXW7 46321 423 8.38 22 Mitochondrion NA 0 PE1 -NX_Q9BXW9 164128 1451 5.58 3 Nucleus;Nucleus;Nucleus;Cytosol Fanconi anemia complementation group D2 0 PE1 -NX_Q9BXX0 115687 1053 6.04 18 Extracellular matrix NA 0 PE1 -NX_Q9BXX2 158049 1392 6.01 18 NA NA 0 PE2 -NX_Q9BXX3 158835 1397 6.08 10 NA NA 0 PE1 -NX_Q9BXY0 35369 300 5.27 8 Nucleolus;Cytoplasmic vesicle;Nucleolus NA 0 PE1 -NX_Q9BXY4 30929 272 9.53 6 Secreted NA 0 PE1 -NX_Q9BXY5 63835 557 8.87 12 Nucleus;Nucleolus;Centrosome NA 0 PE2 -NX_Q9BXY8 15321 128 5.89 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BY07 126255 1137 8.1 2 Apical cell membrane NA 12 PE1 -NX_Q9BY08 23204 206 5.91 13 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 4 PE1 -NX_Q9BY10 51067 475 9.18 9 Cell membrane NA 12 PE2 -NX_Q9BY11 50966 444 5.15 6 Cytoplasm;Nucleus;Cytoplasm;Cell projection;Synaptosome;Ruffle membrane;Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Synapse;Cytosol;Membrane;Cell membrane NA 0 PE1 -NX_Q9BY12 158287 1400 7.21 15 Cytosol;Nucleus;Endoplasmic reticulum;Nucleus NA 0 PE1 -NX_Q9BY14 26667 249 4.9 19 Membrane raft;Cell membrane;Acrosome;Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_Q9BY15 72621 652 8.41 19 Cell membrane;Secreted NA 7 PE1 -NX_Q9BY19 26290 250 5.76 11 Membrane NA 4 PE2 -NX_Q9BY21 41436 358 9.55 3 Nucleoplasm;Lipid droplet;Mitochondrion;Cell membrane NA 7 PE2 -NX_Q9BY27 24932 220 7.02 22 Nucleus NA 0 PE1 -NX_Q9BY31 105251 904 8.91 3 Nucleus NA 0 PE1 -NX_Q9BY32 21446 194 5.5 20 Cytosol;Cytoplasm Epileptic encephalopathy, early infantile, 35;Inosine triphosphate pyrophosphohydrolase deficiency 0 PE1 -NX_Q9BY41 41758 377 5.36 X Cell membrane;Nucleus;Cytoplasm;Nucleus Cornelia de Lange syndrome 5;Wilson-Turner X-linked mental retardation syndrome 0 PE1 -NX_Q9BY42 33887 306 8.87 20 Nucleus;Nucleolus NA 0 PE1 -NX_Q9BY43 25098 222 4.65 14 Cytoplasmic vesicle membrane;Late endosome membrane NA 0 PE1 -NX_Q9BY44 64990 585 9 3 Cytosol;Mitochondrion NA 0 PE1 -NX_Q9BY49 32544 303 8.97 2 Peroxisome;Peroxisome NA 0 PE1 -NX_Q9BY50 21542 192 9.2 18 Microsome membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9BY60 13976 117 8.71 15 Cytoskeleton;Autophagosome membrane NA 0 PE2 -NX_Q9BY64 60906 529 8.84 4 Microsome membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9BY65 11990 106 7.72 3 NA NA 0 PE4 -NX_Q9BY66 174073 1539 5.59 Y Nucleolus;Nucleus NA 0 PE1 -NX_Q9BY67 48509 442 4.94 11 Cell junction;Synapse;Cell membrane NA 1 PE1 -NX_Q9BY71 28108 257 6.45 21 Membrane NA 1 PE1 -NX_Q9BY76 45214 406 9.07 19 Nucleoplasm;Cytoplasmic vesicle;Secreted;Extracellular matrix NA 0 PE1 -NX_Q9BY77 46089 421 10 22 Cytosol;Nucleus speckle;Nucleus;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q9BY78 47737 433 8.86 11 Cytoplasmic vesicle;Nucleoplasm;Cytosol;Endoplasmic reticulum membrane NA 5 PE1 -NX_Q9BY79 62212 579 4.84 11 Apical cell membrane Microphthalmia, isolated, 5;Nanophthalmos 2 1 PE1 -NX_Q9BY84 73102 665 7.24 12 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9BY89 196711 1806 8.69 22 Cytoskeleton NA 0 PE1 -NX_Q9BYB0 184667 1731 8.99 22 Cytoplasm;Postsynaptic density;Dendritic spine Phelan-McDermid syndrome;Schizophrenia 15 0 PE1 -NX_Q9BYB4 35618 327 8.27 22 Cytosol NA 0 PE1 -NX_Q9BYC2 56140 517 6.73 1 Mitochondrion NA 0 PE1 -NX_Q9BYC5 66516 575 7.36 14 Cytosol;Golgi stack membrane;Golgi apparatus NA 1 PE1 -NX_Q9BYC8 21405 188 9.78 7 Mitochondrion NA 0 PE1 -NX_Q9BYC9 17443 149 10.87 1 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9BYD1 20692 178 9.18 8 Mitochondrion NA 0 PE1 -NX_Q9BYD2 30243 267 10.09 1 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9BYD3 34919 311 9.73 19 Mitochondrion NA 0 PE1 -NX_Q9BYD5 12376 112 5.7 19 Cytoplasm;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q9BYD6 36909 325 8.88 4 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9BYD9 41008 372 5.53 3 Nucleoplasm;Cytoskeleton;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BYE0 24899 225 10.49 17 Nucleoplasm;Nucleus;Nucleolus Spondylocostal dysostosis 4, autosomal recessive 0 PE1 -NX_Q9BYE2 63153 586 8.96 11 Membrane NA 1 PE1 -NX_Q9BYE3 9444 92 9.03 1 NA NA 0 PE1 -NX_Q9BYE4 8158 73 8.3 1 Cytoplasm NA 0 PE1 -NX_Q9BYE7 39047 350 4.92 10 Nucleus NA 0 PE1 -NX_Q9BYE9 141543 1310 4.31 5 Apical cell membrane;Microvillus membrane;Cell junction NA 1 PE1 -NX_Q9BYF1 92463 805 5.36 X Cytoplasm;Cell membrane;Secreted NA 1 PE1 -NX_Q9BYG0 44053 378 8 3 Golgi apparatus membrane;Nucleolus NA 1 PE1 -NX_Q9BYG3 34222 293 9.88 2 Nucleolus;Nucleus;Nucleolus;Nucleolus;Chromosome NA 0 PE1 -NX_Q9BYG4 40883 376 8.36 18 Cytoplasm;Cell membrane;Tight junction;Cell membrane NA 0 PE1 -NX_Q9BYG5 41182 372 5.37 20 Cytoplasm;Cell membrane;Tight junction;Cytosol NA 0 PE1 -NX_Q9BYG7 29054 248 9.93 18 Nucleolus NA 0 PE2 -NX_Q9BYG8 57692 508 5.55 8 Cytosol;Cell membrane;Mitochondrion NA 0 PE1 -NX_Q9BYH1 111782 1024 4.68 22 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9BYH8 78061 718 6.15 3 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9BYI3 57625 521 8.45 7 Cell membrane;Cytosol;Cytosol;Cell membrane Leukodystrophy, hypomyelinating, 5 0 PE1 -NX_Q9BYJ0 24581 223 9.15 4 Extracellular space NA 0 PE1 -NX_Q9BYJ1 80543 711 6.53 17 Cell membrane;Cytosol;Cytoplasm Ichthyosis, congenital, autosomal recessive 3 0 PE1 -NX_Q9BYJ4 56864 488 7.43 11 Nucleolus;Centrosome;Cytoplasm NA 0 PE1 -NX_Q9BYJ9 60874 559 8.86 20 Cytoplasm NA 0 PE1 -NX_Q9BYK8 294651 2649 7.36 20 Nucleus NA 0 PE1 -NX_Q9BYL1 22770 202 10.02 20 Nucleoplasm NA 0 PE1 -NX_Q9BYM8 57572 510 5.47 20 NA Polyglucosan body myopathy 1 with or without immunodeficiency 0 PE1 -NX_Q9BYN0 14259 137 7.92 20 Nucleus;Cytoplasm;Cytoplasm NA 0 PE1 -NX_Q9BYN7 92728 854 9.11 20 Cytoplasmic vesicle;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9BYN8 24212 205 10.39 20 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9BYP7 198416 1800 5.77 X Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9BYP8 9504 105 3.83 17 NA NA 0 PE1 -NX_Q9BYP9 16266 154 8.22 17 NA NA 0 PE1 -NX_Q9BYQ0 16723 159 8.04 17 NA NA 0 PE1 -NX_Q9BYQ2 16378 154 7.95 17 NA NA 0 PE1 -NX_Q9BYQ3 16854 159 7.93 17 NA NA 0 PE1 -NX_Q9BYQ4 18287 174 8.15 17 NA NA 0 PE1 -NX_Q9BYQ5 21825 205 8.43 17 NA NA 0 PE1 -NX_Q9BYQ6 20927 195 8.4 17 NA NA 0 PE1 -NX_Q9BYQ7 15241 146 8.15 17 NA NA 0 PE1 -NX_Q9BYQ8 22405 210 8.29 17 NA NA 0 PE2 -NX_Q9BYQ9 19627 185 8.21 17 NA NA 0 PE1 -NX_Q9BYR0 22535 210 8.31 17 NA NA 0 PE1 -NX_Q9BYR2 19363 181 8.25 17 NA NA 0 PE1 -NX_Q9BYR3 18023 166 8.39 17 NA NA 0 PE1 -NX_Q9BYR4 20504 195 8.43 17 NA NA 0 PE1 -NX_Q9BYR5 14462 136 8.31 17 NA NA 0 PE1 -NX_Q9BYR6 10365 98 5.4 17 NA NA 0 PE1 -NX_Q9BYR7 10407 98 5.4 17 NA NA 0 PE1 -NX_Q9BYR8 10539 98 5.99 17 NA NA 0 PE1 -NX_Q9BYR9 13480 128 8.32 17 NA NA 0 PE1 -NX_Q9BYS1 18010 174 6.59 17 NA NA 0 PE1 -NX_Q9BYS8 42943 371 5.79 3 NA NA 0 PE1 -NX_Q9BYT1 47482 436 7.96 20 Membrane;Nucleoplasm Porokeratosis 8, disseminated superficial actinic type 10 PE1 -NX_Q9BYT3 57831 514 6.6 11 Cytosol;Nucleus;Perinuclear region;Nucleolus NA 0 PE1 -NX_Q9BYT5 12957 123 8.26 17 NA NA 0 PE2 -NX_Q9BYT8 80652 704 6.21 5 Mitochondrion;Mitochondrion intermembrane space;Cytoplasm NA 0 PE1 -NX_Q9BYT9 114657 981 8.87 11 Cell membrane Dystonia 24 8 PE1 -NX_Q9BYU1 40854 374 9.05 19 Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q9BYU5 13514 128 8.32 17 NA NA 0 PE2 -NX_Q9BYV1 57156 514 8.08 5 Mitochondrion NA 0 PE1 -NX_Q9BYV2 40301 358 5.15 2 Cytoskeleton;Z line NA 0 PE1 -NX_Q9BYV6 60466 548 4.74 8 Nucleus;Golgi apparatus;Cytosol;Cytoplasm NA 0 PE1 -NX_Q9BYV7 65674 579 8.65 11 Mitochondrion NA 0 PE1 -NX_Q9BYV8 41368 373 8.46 7 Centrosome;Cilium;Cilium basal body Joubert syndrome 15 0 PE1 -NX_Q9BYV9 92537 841 5 6 Nucleus;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BYW1 53703 496 8.57 22 Cell junction;Cell membrane;Nucleus NA 12 PE2 -NX_Q9BYW2 287597 2564 5.8 3 Nucleus;Cytosol;Nucleus speckle;Chromosome Luscan-Lumish syndrome;Renal cell carcinoma;Leukemia, acute lymphoblastic;Leukemia, acute myelogenous 0 PE1 -NX_Q9BYW3 12174 111 9.47 20 Secreted NA 0 PE1 -NX_Q9BYX2 105414 928 6.15 9 Cytosol;Nucleus;Cytoplasm;Cytoplasmic vesicle;Cell junction NA 0 PE1 -NX_Q9BYX4 116689 1025 5.38 2 Nucleus;Cytoplasm Diabetes mellitus, insulin-dependent, 19;Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1 0 PE1 -NX_Q9BYX7 42016 375 5.91 2 Cytoskeleton NA 0 PE5 -NX_Q9BYZ2 41943 381 8.88 15 NA NA 0 PE1 -NX_Q9BYZ6 82626 727 6.27 8 Cell membrane NA 0 PE1 -NX_Q9BYZ8 18230 158 9.33 1 Secreted NA 0 PE1 -NX_Q9BZ11 87739 813 6.54 20 Cell membrane;Nucleus speckle;Membrane Asthma 1 PE1 -NX_Q9BZ19 37630 345 9.2 20 NA NA 0 PE4 -NX_Q9BZ23 62681 570 9.39 20 Cytosol;Mitochondrion;Cytoplasm Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration;Neurodegeneration with brain iron accumulation 1 0 PE1 -NX_Q9BZ29 236446 2069 7.25 13 Endomembrane system NA 0 PE1 -NX_Q9BZ67 51218 464 5.83 11 Nucleus;Nucleolus;Cytosol NA 0 PE1 -NX_Q9BZ68 41136 369 5.54 X NA NA 0 PE5 -NX_Q9BZ71 106781 974 6.69 17 Endomembrane system;Cell membrane Cone-rod dystrophy 5 0 PE1 -NX_Q9BZ72 148933 1349 6.72 12 Cytoplasmic vesicle;Endomembrane system NA 0 PE1 -NX_Q9BZ76 140690 1288 8.02 9 Cell membrane;Secreted NA 1 PE1 -NX_Q9BZ81 31906 275 7.56 X NA NA 0 PE2 -NX_Q9BZ95 161613 1437 8.57 8 Mitochondrion;Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q9BZ97 6256 58 4.45 Y Membrane NA 1 PE5 -NX_Q9BZ98 10490 90 9.55 Y NA NA 0 PE5 -NX_Q9BZA0 7782 68 9.63 Y NA NA 0 PE5 -NX_Q9BZA5 14632 131 5.22 Y NA NA 0 PE5 -NX_Q9BZA7 147558 1347 5.04 X Cell membrane NA 1 PE1 -NX_Q9BZA8 146775 1340 5.03 Y Cell membrane NA 1 PE1 -NX_Q9BZB8 62595 566 7.55 15 Synapse;Membrane;Cytoplasmic granule;P-body;Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Postsynaptic density;Nucleus;Dendrite NA 0 PE1 -NX_Q9BZC1 51966 486 8.11 18 Nucleus;Cytoplasm NA 0 PE1 -NX_Q9BZC7 269873 2435 6.38 9 Endosome membrane;Lysosome membrane NA 14 PE1 -NX_Q9BZD2 51815 475 7.95 10 Late endosome membrane;Lysosome membrane;Cytoplasmic vesicle;Membrane;Golgi apparatus Histiocytosis-lymphadenopathy plus syndrome 11 PE1 -NX_Q9BZD3 41713 368 6.36 4 NA NA 0 PE5 -NX_Q9BZD4 54304 464 8.41 1 Nucleus;Kinetochore;Nucleus NA 0 PE1 -NX_Q9BZD6 25403 226 7.08 11 Golgi apparatus;Membrane NA 1 PE1 -NX_Q9BZD7 25875 231 5.75 X Membrane NA 1 PE2 -NX_Q9BZE0 55689 524 9.08 16 Cytosol;Cell membrane;Nucleoplasm;Cytoplasm;Nucleus speckle Nephronophthisis 7 0 PE1 -NX_Q9BZE1 48117 423 8.83 1 Cytoplasm;Mitochondrion;Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9BZE2 55647 481 7.2 11 Nucleus;Nucleus;Cytosol Mental retardation, autosomal recessive 55 0 PE1 -NX_Q9BZE3 35074 327 9.05 9 Nucleus NA 0 PE2 -NX_Q9BZE4 73964 634 9.52 10 Nucleolus;Nucleolus;Nucleus membrane NA 0 PE1 -NX_Q9BZE7 24956 217 9.83 22 NA NA 0 PE1 -NX_Q9BZE9 60183 553 6.23 17 Cytoplasmic vesicle;Endomembrane system;Endoplasmic reticulum-Golgi intermediate compartment membrane;Nucleoplasm;Cell membrane;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9BZF1 101196 889 6.52 12 Cell membrane;Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum membrane;Nucleus membrane NA 1 PE1 -NX_Q9BZF2 95432 842 8.31 17 Cytosol;Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Cell membrane NA 0 PE1 -NX_Q9BZF3 106306 934 6.48 2 Cell membrane;Nucleus envelope;Endoplasmic reticulum membrane;Cytosol;Cell membrane NA 0 PE1 -NX_Q9BZF9 162505 1416 6.6 15 Cytosol;Cytoskeleton;Cytoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q9BZG1 29044 259 8.07 17 Phagosome;Cytoplasm;Golgi apparatus;Phagosome membrane NA 0 PE1 -NX_Q9BZG2 46090 426 8.45 19 Membrane Amelogenesis imperfecta 1J 1 PE1 -NX_Q9BZG8 48805 443 8.47 17 Nucleoplasm;Cytoplasm;Cell junction;Nucleus Developmental delay with short stature, dysmorphic features, and sparse hair 0 PE1 -NX_Q9BZH6 136685 1224 6.48 10 Cytosol;Nucleus;Cytoskeleton;Membrane;Cytoplasm Hypogonadotropic hypogonadism 14 with or without anosmia 1 PE1 -NX_Q9BZI1 49129 471 5.14 5 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q9BZI7 57762 483 9.48 X Nucleus;Cytoplasm;Nucleus;Nucleolus;Cytosol Mental retardation, X-linked, syndromic, 14 0 PE1 -NX_Q9BZJ0 100452 848 8.1 20 Cytoplasm;Nucleus speckle NA 0 PE1 -NX_Q9BZJ3 26584 242 5.51 16 Secreted NA 0 PE1 -NX_Q9BZJ4 39249 359 9.68 17 Mitochondrion;Mitochondrion inner membrane NA 6 PE1 -NX_Q9BZJ6 47578 419 9.6 6 Cytosol;Cell membrane;Nucleus;Cell membrane NA 7 PE2 -NX_Q9BZJ7 37614 368 10.86 3 Cell membrane NA 7 PE2 -NX_Q9BZJ8 49292 451 6.19 1 Cell membrane NA 7 PE1 -NX_Q9BZK3 23306 213 4.53 8 NA NA 0 PE5 -NX_Q9BZK7 55595 514 5.28 3 Nucleus;Nucleoplasm Mental retardation, autosomal dominant 41;Pierpont syndrome 0 PE1 -NX_Q9BZK8 8369 76 8.97 1 NA NA 0 PE4 -NX_Q9BZL1 8547 73 8.58 19 Cytoplasm NA 0 PE1 -NX_Q9BZL3 6593 60 6.69 5 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q9BZL4 84881 782 5.44 19 Cytoplasm NA 0 PE1 -NX_Q9BZL6 96750 878 6.39 19 Cytosol;Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;trans-Golgi network NA 0 PE1 -NX_Q9BZM1 21067 189 6.95 4 Secreted;Cytoplasm NA 0 PE1 -NX_Q9BZM2 18658 168 5.09 1 Secreted NA 0 PE1 -NX_Q9BZM3 32031 304 9.22 4 Nucleus NA 0 PE2 -NX_Q9BZM4 27949 244 8.2 6 Cytoplasmic vesicle;Microtubule organizing center;Cell membrane NA 0 PE1 -NX_Q9BZM5 27368 246 6.93 6 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane;Cell membrane;Secreted NA 0 PE1 -NX_Q9BZM6 27997 244 7.07 6 Cell membrane;Endoplasmic reticulum;Cytoskeleton;Cell membrane;Cytosol NA 0 PE1 -NX_Q9BZP3 9646 86 4.99 18 NA NA 0 PE5 -NX_Q9BZP6 52271 476 5.54 1 Secreted;Cytoplasm NA 0 PE1 -NX_Q9BZQ2 72632 653 5.2 1 Spindle NA 0 PE1 -NX_Q9BZQ4 34439 307 6.59 1 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q9BZQ6 104664 932 4.82 1 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 -NX_Q9BZQ8 103135 928 4.74 1 Cytosol;Membrane;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9BZR6 50708 473 9.22 22 Endoplasmic reticulum;Perikaryon;Cell membrane;Membrane raft;Dendrite;Cell membrane;Cytoskeleton;Focal adhesion;Axon Schizophrenia 0 PE1 -NX_Q9BZR8 36598 327 6.17 12 Cytosol;Endomembrane system;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9BZR9 61489 551 7.26 10 Nucleoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q9BZS1 47244 431 9.52 X Nucleoplasm;Nucleus;Cytoplasm Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome 0 PE1 -NX_Q9BZS9 5619 49 5.91 7 NA NA 0 PE5 -NX_Q9BZV1 49754 441 6.46 19 Golgi apparatus;Lysosome membrane;Late endosome membrane;Cytosol;Centrosome;Nucleus;Membrane;Cytoplasm;Early endosome membrane;Cytosol NA 0 PE1 -NX_Q9BZV2 55665 496 6.01 2 Nucleoplasm;Cytosol;Membrane Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type 12 PE1 -NX_Q9BZV3 138621 1241 4.52 3 Membrane Macular dystrophy, vitelliform, 5;Retinitis pigmentosa 56 1 PE1 -NX_Q9BZW2 66134 595 8.35 7 Membrane NA 13 PE1 -NX_Q9BZW4 42554 377 7.95 19 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane NA 9 PE1 -NX_Q9BZW5 41636 370 7.55 15 Lysosome membrane;Cytoskeleton NA 9 PE1 -NX_Q9BZW7 81421 698 5.73 2 Nucleus membrane;Nucleus;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9BZW8 41616 370 9.14 1 Cell membrane;Membrane NA 1 PE1 -NX_Q9BZX2 29299 261 6.24 1 Nucleus NA 0 PE1 -NX_Q9BZX4 23964 212 5.11 3 Flagellum NA 0 PE1 -NX_Q9BZY9 48244 425 7.55 6 Cytoplasm;Mitochondrion NA 0 PE1 -NX_Q9BZZ2 182624 1709 6.15 20 Secreted;Cell membrane NA 1 PE1 -NX_Q9BZZ5 59005 524 6.99 11 Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9C000 165866 1473 6.39 17 Nucleoplasm;Cytosol;Cytoplasm;Cytosol;Nucleus;Inflammasome Vitiligo-associated multiple autoimmune disease 1;Autoinflammation with arthritis and dyskeratosis;Palmoplantar carcinoma, multiple self-healing 0 PE1 -NX_Q9C002 9617 83 9.45 15 Mitochondrion;Nucleus NA 0 PE1 -NX_Q9C004 32541 299 8.25 5 Cytoplasm;Ruffle membrane Hypogonadotropic hypogonadism 17 with or without anosmia 0 PE1 -NX_Q9C005 11250 99 4.84 2 Nucleoplasm;Golgi apparatus;trans-Golgi network;Nucleus NA 0 PE1 -NX_Q9C009 41526 403 9.52 6 Nucleus;Nucleus NA 0 PE1 -NX_Q9C010 8468 78 4.76 6 NA NA 0 PE1 -NX_Q9C019 52113 465 5.4 6 NA NA 0 PE1 -NX_Q9C026 79177 710 6.4 14 Cytosol;Cytoplasm;Dendrite;Synaptic vesicle;Cytoskeleton;Synapse NA 0 PE1 -NX_Q9C029 56631 511 7.81 5 Cytoplasmic vesicle;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9C030 56400 488 7.5 11 Cytoplasm NA 0 PE1 -NX_Q9C035 56338 493 5.73 11 Cytosol;P-body;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9C037 57461 500 8.4 7 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9C040 81530 744 6.51 4 Cytoplasm;Centrosome Charcot-Marie-Tooth disease 2R 0 PE1 -NX_Q9C056 29263 277 9.71 10 Nucleus Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 0 PE1 -NX_Q9C073 48319 453 8.67 17 Nucleoplasm NA 0 PE1 -NX_Q9C075 48131 422 6.09 17 Cytoskeleton;Cytosol NA 0 PE1 -NX_Q9C086 38637 356 9.66 2 Cell membrane;Cytosol;Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q9C091 214354 1923 6.18 18 Membrane;Mitochondrion;Nucleolus NA 1 PE1 -NX_Q9C093 209811 1822 5.4 5 NA NA 0 PE1 -NX_Q9C098 73814 648 9 3 Nucleus;Cytoplasm NA 0 PE2 -NX_Q9C099 119596 1032 5.62 8 Centriole NA 0 PE1 -NX_Q9C0A0 145274 1308 6.22 16 Presynaptic cell membrane NA 1 PE1 -NX_Q9C0A1 274176 2572 5.59 14 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q9C0A6 157515 1442 8.74 3 Cytosol;Nucleus;Nucleus Mental retardation, autosomal dominant 23 0 PE1 -NX_Q9C0B0 88084 810 6.4 17 Cytosol;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9C0B1 58282 505 5.1 16 Cytosol;Nucleus;Nucleus speckle;Cytoplasmic vesicle Obesity;Growth retardation, developmental delay, and facial dysmorphism 0 PE1 -NX_Q9C0B2 178589 1584 6.01 1 Cilium axoneme NA 0 PE1 -NX_Q9C0B5 77545 715 9.17 11 Cytosol;Cell membrane;Nucleoplasm;Cell membrane;Cell junction NA 4 PE1 -NX_Q9C0B6 89005 783 8.18 1 Nucleolus;Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_Q9C0B7 120748 1094 5.75 16 Cytosol;Golgi apparatus;Membrane NA 1 PE1 -NX_Q9C0B9 125936 1178 6.55 18 Nucleolus;Nucleus;Cytosol NA 0 PE1 -NX_Q9C0C2 181796 1729 4.77 11 Nucleus;Cytoskeleton;Chromosome NA 0 PE1 -NX_Q9C0C4 92623 833 6.92 2 Synaptic vesicle membrane;Postsynaptic density NA 1 PE1 -NX_Q9C0C6 42692 399 9.08 14 Cytosol;Nucleus;Cytosol;Nucleus;Nucleolus NA 0 PE1 -NX_Q9C0C7 142507 1298 6.73 11 Autophagosome;Mitochondrion;Cytoplasmic vesicle NA 0 PE1 -NX_Q9C0C9 141293 1292 5.01 17 Nucleus;Cytoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q9C0D0 66308 580 6.51 6 Cytoplasm;Synapse;Cell membrane;Nucleus NA 0 PE1 -NX_Q9C0D2 295176 2601 5.68 11 Cell membrane;Cytosol;Centrosome;Centriole NA 0 PE1 -NX_Q9C0D3 83921 744 6.38 1 Golgi apparatus;Cytoskeleton NA 0 PE1 -NX_Q9C0D4 119531 1074 9.52 4 Nucleus;Nucleus NA 0 PE1 -NX_Q9C0D5 202219 1861 8.63 2 Postsynaptic density NA 0 PE1 -NX_Q9C0D6 124762 1143 9.17 4 NA NA 0 PE1 -NX_Q9C0D7 99340 883 6.48 11 Golgi apparatus;Nucleus membrane NA 0 PE1 -NX_Q9C0D9 45229 397 6.12 2 Membrane NA 10 PE1 -NX_Q9C0E2 130139 1151 4.95 13 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9C0E4 112501 1043 6.06 3 Cytosol;Membrane;Cytoplasm NA 0 PE1 -NX_Q9C0E8 47740 428 5.07 2 Nucleoplasm;Endoplasmic reticulum;Endoplasmic reticulum membrane NA 2 PE1 -NX_Q9C0F0 241919 2248 5.8 18 Nucleus Bainbridge-Ropers syndrome 0 PE2 -NX_Q9C0F1 44140 390 5.13 4 Centrosome;Spindle pole;Midbody NA 0 PE1 -NX_Q9C0F3 54277 470 6.75 1 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9C0G0 247367 2248 6.05 18 Cell membrane;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9C0G6 475983 4158 5.72 2 Cilium axoneme NA 0 PE1 -NX_Q9C0H2 57545 523 5.19 7 Cell membrane NA 5 PE1 -NX_Q9C0H5 121286 1083 7.3 8 Nucleus;Nucleoplasm;Cytoskeleton;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9C0H6 80245 718 6.39 X Cytoskeleton;Cytoskeleton;Microtubule organizing center NA 0 PE1 -NX_Q9C0H9 112453 1055 9.32 17 Cell junction;Cytoplasm;Axon;Cytoskeleton;Dendrite;Synapse;Postsynaptic density NA 0 PE1 -NX_Q9C0I1 86148 747 6.17 5 Cytoplasm NA 0 PE1 -NX_Q9C0I3 99510 900 7.88 4 NA NA 0 PE1 -NX_Q9C0I4 179402 1608 7.93 2 Nucleoplasm;Membrane;Cytosol NA 1 PE1 -NX_Q9C0I9 60089 530 9.62 10 Golgi apparatus;Nucleus NA 0 PE2 -NX_Q9C0J1 42310 378 9.44 12 Golgi apparatus membrane;Mitochondrion;Nucleolus NA 1 PE1 -NX_Q9C0J8 145891 1336 9.24 2 Nucleoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_Q9C0J9 50498 482 6.95 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9C0K0 95519 894 6.1 14 Nucleus;Nucleolus;Nucleus Immunodeficiency 49 0 PE1 -NX_Q9C0K1 49631 460 5.71 4 Membrane Congenital disorder of glycosylation 2N 8 PE1 -NX_Q9C0K3 23712 210 5.36 7 NA NA 0 PE2 -NX_Q9C0K7 47026 418 6.52 2 Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9GIP4 19840 190 6.72 16 Membrane NA 3 PE5 -NX_Q9GIY3 30139 266 8.22 6 Endoplasmic reticulum membrane;Late endosome membrane;Cell membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane NA 1 PE1 -NX_Q9GZK3 40412 357 8.61 6 Cell membrane NA 7 PE2 -NX_Q9GZK4 35339 316 9.02 6 Cell membrane NA 7 PE2 -NX_Q9GZK6 35454 312 8.31 6 Cell membrane NA 7 PE3 -NX_Q9GZK7 35250 315 8.05 6 Cell membrane NA 7 PE2 -NX_Q9GZL7 47708 423 5.57 2 Nucleus;Nucleolus;Cell membrane;Nucleolus;Nucleoplasm;Nucleolus;Cytosol NA 0 PE1 -NX_Q9GZL8 12676 116 4.52 3 NA NA 0 PE2 -NX_Q9GZM3 13088 115 6.28 7 Nucleus NA 0 PE1 -NX_Q9GZM5 38248 350 5.47 6 Endoplasmic reticulum;Nucleoplasm;Golgi apparatus;Cell membrane;Cytoplasm;cis-Golgi network membrane NA 5 PE1 -NX_Q9GZM6 34857 311 8.37 11 Cell membrane NA 7 PE2 -NX_Q9GZM7 52387 467 6.54 1 Secreted NA 0 PE1 -NX_Q9GZM8 38375 345 5.16 17 Centrosome;Kinetochore;Spindle;Cytoskeleton NA 0 PE1 -NX_Q9GZN0 40246 384 9.8 1 Cell membrane;Cytoplasm;Nucleus Chorea, childhood-onset, with psychomotor retardation 7 PE2 -NX_Q9GZN1 45810 396 4.92 12 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 -NX_Q9GZN2 25878 237 7.77 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9GZN4 33732 317 7.55 16 Nucleoplasm;Secreted NA 0 PE1 -NX_Q9GZN6 82200 736 8.59 19 Golgi apparatus;Membrane NA 12 PE1 -NX_Q9GZN7 32254 287 8.3 16 Cytoplasm;Nucleus;Nucleus envelope Kohlschuetter-Toenz syndrome 0 PE1 -NX_Q9GZN8 19291 174 6.34 20 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9GZP0 42848 370 8.28 11 Secreted;Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q9GZP1 21983 204 4.69 20 Cell membrane;Golgi apparatus;Nucleoplasm;Cytosol;Cytoplasmic vesicle;Membrane NA 2 PE1 -NX_Q9GZP4 24178 211 5.47 1 NA NA 0 PE1 -NX_Q9GZP7 40021 353 9.46 19 Cytoplasmic vesicle;Cell membrane;Nucleus NA 7 PE2 -NX_Q9GZP8 10897 106 9.73 19 Nucleus;Nucleus;Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q9GZP9 27567 239 6.73 17 Endoplasmic reticulum;Endoplasmic reticulum membrane NA 4 PE1 -NX_Q9GZQ3 24670 224 6.52 8 Cytoplasm;Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9GZQ4 47696 415 8.96 5 Cell membrane NA 7 PE1 -NX_Q9GZQ6 47819 430 9.54 10 Cell membrane NA 7 PE2 -NX_Q9GZQ8 14688 125 8.89 16 Nucleus;Cytoplasm;Autophagosome;Cytoskeleton;Endomembrane system;Autophagosome membrane NA 0 PE1 -NX_Q9GZR1 126146 1112 6.3 6 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9GZR2 46672 422 9.79 9 Nucleus;Nucleolus;Nucleus;Nucleolus NA 0 PE1 -NX_Q9GZR5 36829 314 9.49 6 Endoplasmic reticulum membrane Spinocerebellar ataxia 34;Stargardt disease 3;Ichthyosis, spastic quadriplegia, and mental retardation 7 PE1 -NX_Q9GZR7 96332 859 9.14 14 Nucleus;Nucleolus;Cytosol NA 0 PE1 -NX_Q9GZS0 68821 605 4.68 17 Cilium axoneme Ciliary dyskinesia, primary, 9 0 PE1 -NX_Q9GZS1 53962 481 8.8 9 Nucleus;Nucleolus;Nucleolus NA 0 PE1 -NX_Q9GZS3 33581 305 5.16 15 Cytosol;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9GZS9 46161 411 10.07 16 Golgi apparatus membrane NA 1 PE1 -NX_Q9GZT3 12349 109 10.26 14 Mitochondrion;Mitochondrion;Nucleus NA 0 PE1 -NX_Q9GZT4 36566 340 6.11 17 Cytoplasmic vesicle NA 0 PE1 -NX_Q9GZT5 46444 417 9.38 2 Extracellular matrix Tooth agenesis, selective, 4;Schopf-Schulz-Passarge syndrome;Odonto-onycho-dermal dysplasia 0 PE1 -NX_Q9GZT6 29506 254 6.99 11 Mitochondrion;Mitochondrion;Mitochondrion membrane NA 1 PE1 -NX_Q9GZT8 41968 377 6.19 2 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9GZT9 46021 426 8.83 1 Cytoplasm;Cytosol;Nucleus Erythrocytosis, familial, 3 0 PE1 -NX_Q9GZU0 27083 229 9.05 6 Nucleus;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9GZU1 65022 580 6.9 19 Cell membrane;Cytosol;Late endosome membrane;Lysosome membrane;Phagocytic cup;Phagosome membrane;Cell membrane Mucolipidosis 4 6 PE1 -NX_Q9GZU2 180827 1588 5.31 19 Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9GZU3 56274 492 9.51 1 Cytoplasmic vesicle;Membrane NA 8 PE1 -NX_Q9GZU5 52000 481 9.1 X Extracellular matrix Night blindness, congenital stationary, 1A 0 PE1 -NX_Q9GZU7 29203 261 5.62 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9GZU8 28912 254 5.38 16 Nucleus;Nucleus;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q9GZV1 39859 360 5.72 10 Cytoplasmic vesicle;Nucleus;PML body;I band;Cytosol NA 0 PE1 -NX_Q9GZV3 63204 580 5 2 Membrane;Cytoskeleton;Cell membrane;Nucleus;Synapse;Cell junction Myasthenic syndrome, congenital, 20, presynaptic;Neuronopathy, distal hereditary motor, 7A 13 PE1 -NX_Q9GZV4 16793 153 5.38 3 Cytoplasm;Nucleus;Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nuclear pore complex NA 0 PE1 -NX_Q9GZV5 44101 400 5.49 3 Cytosol;Nucleus;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9GZV7 37775 340 9.12 1 Extracellular matrix NA 0 PE1 -NX_Q9GZV8 64062 571 6.65 8 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9GZV9 27954 251 9.17 12 Secreted Tumoral calcinosis, hyperphosphatemic, familial;Hypophosphatemic rickets, autosomal dominant 0 PE1 -NX_Q9GZW5 34217 306 10.67 15 Nucleus NA 0 PE5 -NX_Q9GZW8 26131 240 6.17 11 Membrane NA 4 PE2 -NX_Q9GZX3 44099 395 10.03 16 Golgi apparatus membrane Macular dystrophy, corneal 1 PE1 -NX_Q9GZX5 60011 532 8.92 19 Nucleoplasm;Nucleus;Nucleus;Nucleus matrix NA 0 PE1 -NX_Q9GZX6 20011 179 7.65 12 Secreted NA 0 PE1 -NX_Q9GZX7 23954 198 9.5 12 Cytoplasm;Nucleus;Cytoplasm Immunodeficiency with hyper-IgM 2 0 PE1 -NX_Q9GZX9 25017 223 5.17 18 Cytosol;Centrosome;Secreted NA 0 PE1 -NX_Q9GZY0 71627 626 7.74 X Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9GZY1 15722 135 9.77 6 Cytoplasm;Nucleus NA 0 PE2 -NX_Q9GZY4 16694 146 8.76 7 Mitochondrion inner membrane;Mitochondrion NA 1 PE1 -NX_Q9GZY6 26550 243 4.69 7 Cell membrane NA 1 PE1 -NX_Q9GZY8 38465 342 9.01 2 Mitochondrion outer membrane;Mitochondrion;Peroxisome;Synaptic vesicle Encephalopathy due to defective mitochondrial and peroxisomal fission 2 1 PE1 -NX_Q9GZZ0 34093 328 9.15 2 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9GZZ1 19398 169 8.96 3 Cytoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9GZZ6 49705 450 8.2 11 Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_Q9GZZ7 31670 299 10.47 20 Secreted;Cell membrane NA 0 PE1 -NX_Q9GZZ8 14246 138 5.44 12 Secreted NA 0 PE1 -NX_Q9GZZ9 44863 404 4.79 3 Cytoplasm;Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol Spinocerebellar ataxia, autosomal recessive, 24;Epileptic encephalopathy, early infantile, 44 0 PE1 -NX_Q9H000 46940 416 7.73 3 Cytoplasm;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9H008 29165 270 5.8 10 Nucleus speckle;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H009 23223 215 4.68 17 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H013 104997 955 8.75 5 Membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q9H015 62155 551 6.85 5 Cytosol;Nucleoplasm;Membrane Rheumatoid arthritis 12 PE1 -NX_Q9H019 31957 292 5.77 1 Cytoplasm;Cell junction;Mitochondrion NA 0 PE1 -NX_Q9H040 55134 489 8.38 1 Nucleus;Nucleoplasm;Chromosome;Nucleus Ruijs-Aalfs syndrome 0 PE1 -NX_Q9H061 21527 195 9.36 11 Mitochondrion;Nucleus;Mitochondrion inner membrane;Cytosol Optic atrophy 7 with or without auditory neuropathy 4 PE1 -NX_Q9H063 28771 256 4.47 8 Nucleus;Cytoplasm;Nucleolus;Nucleus;Nucleus;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q9H069 61054 523 4.68 17 Cytoplasm;Cilium axoneme NA 0 PE1 -NX_Q9H074 53525 479 4.71 5 Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q9H078 78729 707 9.13 11 Mitochondrion 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 0 PE1 -NX_Q9H079 34767 304 9.18 15 Nucleus;Spindle;Nucleus;Nucleus;Spindle pole;Midbody NA 0 PE1 -NX_Q9H081 24140 205 5.5 17 Nucleus;Kinetochore NA 0 PE1 -NX_Q9H082 25718 229 6.7 4 Golgi apparatus;Golgi apparatus membrane;cis-Golgi network Smith-McCort dysplasia 2 0 PE1 -NX_Q9H089 75225 658 5.96 3 Endoplasmic reticulum;Cytosol;Cytoplasm;Nucleus;Nucleus;Endoplasmic reticulum;Cajal body NA 0 PE1 -NX_Q9H091 81860 742 6.38 17 Cytosol;Nucleus speckle;Nucleus;Cytoplasm Spermatogenic failure 14 0 PE1 -NX_Q9H093 69612 628 9.01 1 Nucleus;Nucleus;Nucleolus;Cytosol NA 0 PE1 -NX_Q9H094 72951 633 4.4 1 Cytoplasm;Cytoplasm NA 0 PE2 -NX_Q9H095 51918 443 6.18 3 Cytosol;Cytoskeleton;Cytoplasm;Flagellum;Cilium;Cytoskeleton NA 0 PE1 -NX_Q9H098 15558 131 7.89 10 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9H0A0 115730 1025 8.5 11 Nucleolus;Nucleolus;Midbody NA 0 PE1 -NX_Q9H0A3 17963 160 8.95 22 Membrane NA 1 PE2 -NX_Q9H0A6 41516 362 9.15 7 Cell membrane;Cytoplasm NA 0 PE1 -NX_Q9H0A8 21764 199 6.89 15 Cytoplasm;Cell membrane;Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9H0A9 37613 340 7.05 21 Nucleus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q9H0B3 127693 1180 10.25 19 Mitochondrion NA 0 PE1 -NX_Q9H0B6 68935 622 6.72 11 Cytoplasm;Cell membrane;Cytoskeleton;Nucleoplasm;Cytosol Spastic paraplegia, optic atrophy, and neuropathy 0 PE1 -NX_Q9H0B8 55920 497 8.36 16 Golgi apparatus;Secreted;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9H0C1 41818 365 5.82 1 Nucleus;Cytoplasm NA 0 PE1 -NX_Q9H0C2 35022 315 9.91 4 Mitochondrion;Mitochondrion inner membrane;Flagellum NA 6 PE1 -NX_Q9H0C3 60185 514 8.67 12 Endoplasmic reticulum;Cell membrane NA 8 PE1 -NX_Q9H0C5 52771 482 5.79 15 Cytoplasm;P-body NA 0 PE1 -NX_Q9H0C8 42907 392 6.68 2 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9H0D2 145587 1346 8.28 19 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9H0D6 108582 950 7.26 20 Nucleolus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9H0E2 30282 274 5.68 11 Endosome;Cytoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_Q9H0E3 110324 1048 9.83 2 Nucleus;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9H0E7 81185 712 8.21 12 Nucleus;Nucleus;Nucleolus;Cytoskeleton NA 0 PE1 -NX_Q9H0E9 135336 1235 4.52 5 Nucleus;Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q9H0F5 57595 515 7.68 9 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H0F6 39949 387 5.53 8 Cytosol;Synapse;Nucleus;Cytosol NA 0 PE1 -NX_Q9H0F7 21097 186 8.72 3 Cilium axoneme;Cilium basal body;Cilium membrane;Nucleoplasm;Cytoplasmic vesicle Bardet-Biedl syndrome 3;Retinitis pigmentosa 55 0 PE1 -NX_Q9H0G5 66390 558 8.9 17 Nucleus;Nucleoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9H0H0 134323 1204 5.72 17 Nucleus;Cytoplasm;Nucleus membrane;Nucleoplasm;Cytoplasm NA 1 PE1 -NX_Q9H0H3 65923 589 6.1 15 Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9H0H5 71027 632 9.08 12 Nucleus envelope;Nucleus;Nucleoplasm;Midbody ring;Cytoplasm;Spindle;Acrosome;Cleavage furrow;Cell membrane NA 0 PE1 -NX_Q9H0H9 12413 118 9.49 2 NA NA 0 PE5 -NX_Q9H0I2 38759 346 9.84 16 Cytoskeleton;Cell membrane;Centrosome;Cytosol NA 0 PE1 -NX_Q9H0I3 44220 377 8.75 16 Nucleus;Cytoplasm;Cytosol;Centriolar satellite;Nucleoplasm NA 0 PE1 -NX_Q9H0I9 67877 626 5.9 4 Cytoplasm NA 0 PE1 -NX_Q9H0J4 180827 1663 6.25 17 Cytoplasmic vesicle;Nucleoplasm;Nucleus membrane NA 0 PE1 -NX_Q9H0J9 79064 701 8.84 7 Nucleus;Nucleus NA 0 PE1 -NX_Q9H0K1 103915 926 5.7 11 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q9H0K4 80913 717 4.36 19 Nucleus;Cytoplasm NA 0 PE1 -NX_Q9H0K6 80700 701 7.31 12 Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9H0L4 64437 616 6.79 10 Nucleus;Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H0M0 105202 922 5.64 8 Cytoplasm;Golgi apparatus;Cell membrane;Cell membrane;Nucleus;Cytosol NA 0 PE1 -NX_Q9H0M4 72007 648 7.47 7 Golgi apparatus NA 0 PE1 -NX_Q9H0M5 86232 742 9.15 19 Nucleus NA 0 PE1 -NX_Q9H0N0 28355 254 7.58 2 Golgi apparatus;Nucleus;Centrosome;Cytoplasm NA 0 PE1 -NX_Q9H0N5 14365 130 9.17 5 Nucleus;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9H0P0 37948 336 6.67 7 Nucleus;Mitochondrion;Endoplasmic reticulum;Cytoplasm;Cytoplasm P5N deficiency 0 PE1 -NX_Q9H0P7 20949 198 6.01 6 Cytoplasm NA 0 PE5 -NX_Q9H0Q0 37313 323 5.71 2 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9H0Q3 10542 95 5.05 11 Cell membrane;Membrane;Golgi apparatus NA 1 PE1 -NX_Q9H0R1 54767 490 6.17 14 Cytosol;Late endosome membrane;Lysosome membrane NA 0 PE1 -NX_Q9H0R3 23230 208 6.04 1 Cytosol;Membrane;Cell membrane NA 3 PE1 -NX_Q9H0R4 28536 259 5.84 18 Nucleus;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9H0R5 68114 595 6.11 1 Cytoplasm;Cytoplasm;Perinuclear region;Golgi apparatus membrane NA 0 PE1 -NX_Q9H0R6 57460 528 5.47 6 Mitochondrion;Centrosome;Cytoplasmic vesicle NA 0 PE1 -NX_Q9H0R8 14044 117 8.67 12 Nucleus;Cytoplasm;Cytoplasmic vesicle membrane;Endoplasmic reticulum;Golgi apparatus;Autophagosome;Cytoskeleton NA 0 PE1 -NX_Q9H0S4 50647 455 9.18 12 Nucleus;Nucleolus;Nucleolus NA 0 PE1 -NX_Q9H0T7 23491 212 7.7 2 Nucleus;Cytoplasm;Dendrite;Recycling endosome membrane;Melanosome NA 0 PE1 -NX_Q9H0U3 38037 335 9.68 X Endoplasmic reticulum;Cell membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 4 PE1 -NX_Q9H0U4 22171 201 5.55 11 Golgi apparatus;Endoplasmic reticulum;Golgi apparatus;Cytoplasm;Membrane;Preautophagosomal structure membrane NA 0 PE1 -NX_Q9H0U6 20577 180 9.63 6 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9H0U9 49192 437 5.36 6 Nucleus;Nucleus;Nucleolus;Nucleolus Sudden infant death with dysgenesis of the testes syndrome 0 PE1 -NX_Q9H0V1 79755 697 8.34 7 Golgi apparatus;Membrane NA 11 PE1 -NX_Q9H0V9 39711 348 8.55 2 Endoplasmic reticulum;Endoplasmic reticulum membrane;Golgi apparatus membrane Mental retardation, autosomal recessive 52 1 PE1 -NX_Q9H0W5 59374 538 8.72 19 Cell membrane;Cytosol;Nucleus;Cell membrane;Cytoplasm;Centrosome 3M syndrome 3 0 PE1 -NX_Q9H0W7 26260 228 10.17 12 Cell membrane;Golgi apparatus;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q9H0W8 57651 520 6.52 19 Nucleus;Cytoplasm;Mitochondrion;Cytosol Heart and brain malformation syndrome 0 PE1 -NX_Q9H0W9 35117 315 6.23 11 Nucleus;Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q9H0X4 59660 552 5.84 16 Cell membrane;Membrane;Mitochondrion;Nucleoplasm NA 1 PE1 -NX_Q9H0X6 27964 261 7.45 9 Nucleus;Cytoplasm;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9H0X9 98616 879 7.29 11 Endoplasmic reticulum;Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9H0Y0 25279 220 5.35 5 Nucleus;Cytoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9H0Z9 25498 239 8.76 20 Cytosol;Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9H106 21687 197 9.56 20 Secreted NA 0 PE2 -NX_Q9H112 16506 138 6.51 20 Nucleus;Cytoplasm NA 0 PE1 -NX_Q9H114 16989 145 9.84 20 Secreted NA 0 PE2 -NX_Q9H115 33557 298 5.32 20 Membrane NA 0 PE1 -NX_Q9H116 80492 711 8.11 20 Nucleoplasm;Nucleolus;Nucleus;Nucleolus NA 0 PE1 -NX_Q9H147 37013 329 9.11 20 Nucleus;Nucleus NA 0 PE1 -NX_Q9H156 95404 845 7.95 X Membrane;Cell membrane NA 1 PE1 -NX_Q9H158 103942 963 5.05 5 Cytoplasmic vesicle;Nucleolus;Nucleus;Cell membrane NA 1 PE2 -NX_Q9H159 87002 772 4.62 18 Cell membrane NA 1 PE1 -NX_Q9H160 32808 280 8.17 4 Cytosol;Golgi apparatus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H161 44241 411 8.56 11 Nucleoplasm;Nucleus Potocki-Shaffer syndrome;Parietal foramina 2;Craniosynostosis 5;Frontonasal dysplasia 2 0 PE1 -NX_Q9H165 91197 835 6.15 2 Nucleus;Nucleoplasm;Cytoplasm;Nucleus Intellectual developmental disorder with persistence of fetal hemoglobin 0 PE1 -NX_Q9H169 22071 189 5.76 8 Golgi apparatus;Cytoplasmic vesicle;Axon;Golgi apparatus;Growth cone NA 0 PE1 -NX_Q9H171 46343 429 6.29 20 NA NA 0 PE1 -NX_Q9H172 71896 646 8.49 11 Membrane NA 6 PE1 -NX_Q9H173 52085 461 5.27 5 Endoplasmic reticulum lumen Marinesco-Sjoegren syndrome 0 PE1 -NX_Q9H175 59591 543 4.68 12 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9H190 31594 292 9.15 20 Cytosol;Cytoplasmic vesicle;Cytoplasm;Nucleoplasm;Cell membrane;Nucleolus;Nucleus speckle NA 0 PE1 -NX_Q9H195 131402 1237 5.28 7 Membrane NA 1 PE2 -NX_Q9H1A3 36536 318 6.96 16 Cytosol;Nucleus;Cell junction NA 0 PE1 -NX_Q9H1A4 216500 1944 5.88 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q9H1A7 13092 115 5.88 7 Nucleus NA 0 PE2 -NX_Q9H1B4 45628 397 9.1 X Cytoplasm;Nucleus NA 0 PE2 -NX_Q9H1B5 96767 865 8.5 17 Cytosol;Endoplasmic reticulum membrane;Golgi apparatus membrane;Nucleus Spondyloocular syndrome;Pseudoxanthoma elasticum 1 PE1 -NX_Q9H1B7 82659 796 8.56 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H1C0 41347 372 10.22 12 Cell membrane NA 7 PE1 -NX_Q9H1C3 40026 349 6.57 12 Cytosol;Membrane NA 1 PE1 -NX_Q9H1C4 66631 597 6.48 11 Nucleoplasm;Endoplasmic reticulum membrane;Endosome;Lysosome;Phagosome Herpes simplex encephalitis 1 12 PE1 -NX_Q9H1C7 10631 97 4.2 5 Membrane NA 1 PE1 -NX_Q9H1D0 87286 765 7.86 7 Cell membrane NA 6 PE1 -NX_Q9H1D9 35684 316 5.79 20 Nucleus;Nucleus NA 0 PE1 -NX_Q9H1E1 17419 156 9.76 14 Secreted NA 0 PE1 -NX_Q9H1E3 27296 243 5 1 Nucleus;Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9H1E5 38952 349 4.31 20 Membrane;Nucleus membrane NA 1 PE1 -NX_Q9H1F0 8943 79 8.8 20 Secreted NA 0 PE2 -NX_Q9H1H1 16872 148 6.3 20 NA NA 0 PE1 -NX_Q9H1H9 202308 1805 5.43 6 Golgi apparatus membrane;Endosome membrane;Centrosome;Midbody NA 0 PE1 -NX_Q9H1I8 86360 757 5.02 22 Nucleus;Cytosol;Focal adhesion;Nucleus NA 0 PE1 -NX_Q9H1J1 54696 476 9.12 13 Cytoplasm;Nucleus;Cytosol;Nucleus;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q9H1J5 38849 351 8.1 5 Extracellular matrix;Cell membrane;Cytosol NA 0 PE2 -NX_Q9H1J7 40323 359 8.8 12 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_Q9H1K0 88870 784 5.36 3 Early endosome membrane;Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q9H1K1 17999 167 9.54 12 Cytosol;Mitochondrion;Cytoplasm;Nucleus Myopathy with exercise intolerance Swedish type 0 PE1 -NX_Q9H1K4 33849 315 9.39 22 Mitochondrion inner membrane NA 6 PE1 -NX_Q9H1K6 37758 362 8.54 15 Cytoplasmic vesicle NA 0 PE1 -NX_Q9H1L0 12410 117 6.4 20 NA NA 0 PE4 -NX_Q9H1M0 20837 184 4.41 X NA NA 0 PE1 -NX_Q9H1M3 20299 183 9.04 20 Secreted NA 0 PE1 -NX_Q9H1M4 11343 99 9.05 20 Secreted NA 0 PE1 -NX_Q9H1N7 44593 401 9.34 6 Golgi apparatus membrane NA 10 PE1 -NX_Q9H1P3 55201 480 5.94 20 Cytosol Deafness, autosomal dominant, 67 0 PE1 -NX_Q9H1P6 15719 137 8.72 20 NA NA 0 PE1 -NX_Q9H1Q7 51782 454 6.41 20 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9H1R2 31882 295 8.77 20 Cell membrane;Cytoplasm;Cell membrane;Cytosol NA 0 PE1 -NX_Q9H1R3 64685 596 6.6 20 Cytoplasm;Endoplasmic reticulum Cardiomyopathy, familial hypertrophic 0 PE1 -NX_Q9H1U4 62984 602 5.45 9 Cytosol;Nucleus;Membrane NA 1 PE1 -NX_Q9H1U9 33672 297 9.51 9 Mitochondrion inner membrane NA 6 PE1 -NX_Q9H1V8 81001 727 5.68 1 Golgi apparatus;Nucleus;Synaptic vesicle membrane Mental retardation, autosomal recessive 48 12 PE1 -NX_Q9H1X1 31292 276 5.28 6 Cilium axoneme Ciliary dyskinesia, primary, 12 0 PE1 -NX_Q9H1X3 42404 360 9.2 9 Cytosol;Nucleoplasm;Membrane NA 3 PE1 -NX_Q9H1Y0 32447 275 5.48 6 Preautophagosomal structure membrane;Centrosome;Cytoplasm Spinocerebellar ataxia, autosomal recessive, 25 0 PE1 -NX_Q9H1Y3 44873 402 9.3 1 Nucleoplasm;Membrane NA 7 PE1 -NX_Q9H1Z4 53696 485 9.33 X Nucleoplasm;Microtubule organizing center;Cell membrane;Nucleus NA 0 PE1 -NX_Q9H1Z8 17183 148 8.57 2 Secreted;Secretory vesicle NA 0 PE2 -NX_Q9H1Z9 36498 355 5.57 17 Membrane NA 3 PE1 -NX_Q9H201 68222 632 5.64 17 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Perinuclear region;Clathrin-coated vesicle;Nucleus NA 0 PE1 -NX_Q9H204 19520 178 5.39 4 Membrane;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9H205 35270 316 8.38 11 Cell membrane NA 7 PE1 -NX_Q9H207 35519 317 9.06 11 Cell membrane NA 7 PE2 -NX_Q9H208 33817 303 9.12 11 Cell membrane NA 7 PE2 -NX_Q9H209 35117 315 7.56 11 Cell membrane NA 7 PE2 -NX_Q9H210 34172 308 9.31 11 Cell membrane NA 7 PE2 -NX_Q9H211 60390 546 9.82 16 Nucleus;Nucleus;Nucleus;Kinetochore Meier-Gorlin syndrome 4 0 PE1 -NX_Q9H213 24441 219 9.05 X Nucleolus NA 0 PE1 -NX_Q9H221 75679 673 8.52 2 Cytoplasmic vesicle;Membrane Gallbladder disease 4;Sitosterolemia 6 PE1 -NX_Q9H222 72504 651 9.15 2 Membrane;Nucleus Sitosterolemia 6 PE1 -NX_Q9H223 61175 541 6.33 15 Early endosome membrane;Recycling endosome membrane;Cell membrane NA 0 PE1 -NX_Q9H227 53696 469 5.39 4 Cytosol NA 0 PE1 -NX_Q9H228 41775 398 9.86 19 Cell membrane NA 7 PE1 -NX_Q9H237 52318 461 9.08 X Cytoplasmic vesicle;Endoplasmic reticulum membrane Focal dermal hypoplasia 8 PE1 -NX_Q9H239 58939 520 9.7 17 Extracellular matrix NA 0 PE1 -NX_Q9H244 39439 342 9.6 3 Cell membrane Bleeding disorder, platelet-type 8 7 PE1 -NX_Q9H246 13865 121 5.17 1 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9H251 369494 3354 4.5 10 Cell membrane Usher syndrome 1D;Usher syndrome 1D/F;Deafness, autosomal recessive, 12 1 PE1 -NX_Q9H252 109925 994 6.55 17 Membrane NA 6 PE1 -NX_Q9H254 288985 2564 5.72 19 Nucleolus;Cytoskeleton;Cell cortex;Nucleus Myopathy, congenital, with neuropathy and deafness 0 PE1 -NX_Q9H255 35493 320 9.16 11 Cell membrane NA 7 PE2 -NX_Q9H257 62241 536 5.79 9 Cytoplasm Candidiasis, familial, 2 0 PE1 -NX_Q9H267 70585 617 6.29 15 Late endosome membrane;Lysosome membrane;Recycling endosome;Clathrin-coated vesicle;Early endosome Arthrogryposis, renal dysfunction and cholestasis syndrome 1 0 PE1 -NX_Q9H269 94694 839 6.32 20 Late endosome membrane;Autophagosome;Lysosome membrane;Early endosome;Clathrin-coated vesicle NA 0 PE1 -NX_Q9H270 107837 941 6.6 11 Endosome;Cytosol;Late endosome membrane;Lysosome membrane;Early endosome;Cytoplasmic vesicle;Autophagosome;Clathrin-coated vesicle Leukodystrophy, hypomyelinating, 12 0 PE1 -NX_Q9H293 20330 177 8.73 14 Secreted NA 0 PE1 -NX_Q9H295 53393 470 9.41 8 Cell membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Endosome NA 6 PE1 -NX_Q9H299 10438 93 4.82 1 Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H2A2 53401 487 6.76 6 Centrosome;Cytoplasm NA 0 PE1 -NX_Q9H2A3 28621 272 7.65 4 Nucleus NA 0 PE2 -NX_Q9H2A7 27579 254 9.06 17 Cell membrane;Cytoplasmic vesicle;Golgi apparatus;Secreted NA 1 PE1 -NX_Q9H2A9 48834 424 10.18 19 Golgi apparatus membrane Peeling skin syndrome 3 1 PE1 -NX_Q9H2B2 47958 425 8.72 18 Cytoplasmic vesicle;Cell membrane;Synaptic vesicle membrane NA 1 PE1 -NX_Q9H2B4 75016 701 8.47 4 Cell membrane;Basolateral cell membrane;Cytoskeleton Nephrolithiasis, calcium oxalate 9 PE1 -NX_Q9H2C0 67638 597 5.58 16 Cytoskeleton;Cytoskeleton;Cytoplasm Giant axonal neuropathy 1, autosomal recessive 0 PE1 -NX_Q9H2C1 44406 402 7.87 12 Nucleus NA 0 PE2 -NX_Q9H2C2 31052 271 8.59 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane Epileptic encephalopathy, early infantile, 38 3 PE1 -NX_Q9H2C5 35955 316 9.02 11 Cell membrane NA 7 PE3 -NX_Q9H2C8 36749 321 8.95 11 Cell membrane NA 7 PE3 -NX_Q9H2D1 35407 315 9.49 8 Mitochondrion;Mitochondrion inner membrane Exercise intolerance, riboflavin-responsive 6 PE1 -NX_Q9H2D6 261376 2365 8.86 22 Cytosol;Cytoskeleton;Nucleus;Centrosome;Midbody Deafness, autosomal recessive, 28 0 PE1 -NX_Q9H2E6 114395 1030 8.68 5 Cell membrane;Nucleus;Cytoskeleton NA 1 PE1 -NX_Q9H2F3 41016 369 8.48 16 Lipid droplet;Endoplasmic reticulum membrane Congenital bile acid synthesis defect 1 2 PE1 -NX_Q9H2F5 93463 836 8.77 10 Nucleus NA 0 PE1 -NX_Q9H2F9 38869 335 8.78 18 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q9H2G2 142695 1235 5.08 10 Cytoplasm;Cell membrane;Cytosol NA 0 PE1 -NX_Q9H2G4 79435 693 4.45 X Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H2G9 44910 400 8.74 1 Golgi apparatus lumen;Nucleus;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9H2H0 20978 198 9.39 4 Cytoplasm NA 0 PE1 -NX_Q9H2H8 18155 161 6.29 2 Nucleus NA 0 PE1 -NX_Q9H2H9 54048 487 6.6 12 Cell membrane NA 11 PE1 -NX_Q9H2I8 22568 198 6.23 10 Nucleus;Cytosol Albinism, oculocutaneous, 7 0 PE1 -NX_Q9H2J1 18048 176 7.75 9 NA NA 0 PE2 -NX_Q9H2J4 27614 239 4.78 2 Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_Q9H2J7 81836 730 5.06 12 Cytoplasmic vesicle;Nucleolus;Membrane NA 12 PE1 -NX_Q9H2K0 31725 278 9.7 13 Mitochondrion;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q9H2K2 126918 1166 6.76 10 Cytoplasm;Cytoskeleton;Golgi apparatus membrane;Nucleus;Telomere NA 0 PE1 -NX_Q9H2K8 105406 898 6.83 12 Cytoplasm;Cell membrane;Mitochondrion NA 0 PE1 -NX_Q9H2L4 15500 133 9.62 7 Membrane NA 4 PE2 -NX_Q9H2L5 36748 321 7.66 10 Nucleus;Nucleolus;Cell junction NA 0 PE1 -NX_Q9H2M3 40354 363 5.61 5 NA NA 0 PE1 -NX_Q9H2M9 155985 1393 5.4 1 Cell membrane;Cytosol;Cytoplasm Warburg micro syndrome 2;Martsolf syndrome 0 PE1 -NX_Q9H2P0 123563 1102 6.97 20 Nucleus;Nucleoplasm Helsmoortel-van der Aa syndrome 0 PE1 -NX_Q9H2P9 31651 285 5.19 1 Golgi apparatus NA 0 PE1 -NX_Q9H2Q1 14539 129 8.65 11 Golgi apparatus;Membrane;Endoplasmic reticulum NA 2 PE2 -NX_Q9H2R5 28087 256 8.27 19 Secreted NA 0 PE1 -NX_Q9H2S1 63760 579 9.58 5 Membrane;Cytosol;Nucleoplasm NA 6 PE1 -NX_Q9H2S5 45525 420 8.69 6 Cytoplasmic vesicle;Cell membrane;Cytoplasm;Centrosome NA 0 PE1 -NX_Q9H2S6 37130 317 5.12 X Cytoplasm;Nucleus envelope;Membrane NA 1 PE1 -NX_Q9H2S9 64106 585 6.39 12 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H2T7 124375 1088 6.02 5 Nucleus;Cytosol;Nucleus membrane;Nuclear pore complex;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9H2U1 114760 1008 7.58 3 Cytosol;Nucleus;Telomere;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9H2U2 37920 334 7.07 4 Mitochondrion;Mitochondrion;Nucleus Sudden cardiac failure, alcohol-induced;Sudden cardiac failure, infantile 0 PE1 -NX_Q9H2U6 11474 94 7.64 15 NA NA 0 PE5 -NX_Q9H2U9 85669 754 6.08 8 Membrane NA 1 PE1 -NX_Q9H2V7 56630 528 6.19 16 Endosome;Endoplasmic reticulum;Cytosol;Golgi apparatus;Mitochondrion inner membrane;Cytoplasmic vesicle;Nucleolus NA 12 PE1 -NX_Q9H2W1 26943 248 6.57 11 Membrane NA 4 PE1 -NX_Q9H2W2 24659 232 9.04 1 Nucleus;Nucleus NA 0 PE1 -NX_Q9H2W6 31705 279 6.55 15 Cell junction;Mitochondrion;Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q9H2X0 102032 955 8.07 3 Secreted NA 0 PE1 -NX_Q9H2X3 45350 399 5.12 19 Secreted;Cell membrane NA 1 PE1 -NX_Q9H2X6 130966 1198 8.69 7 Cytoplasm;Nucleus;PML body NA 0 PE1 -NX_Q9H2X8 12410 130 5.36 14 Cytosol;Membrane;Nucleolus NA 1 PE1 -NX_Q9H2X9 126184 1139 6.29 20 Membrane Epileptic encephalopathy, early infantile, 34;Epilepsy, idiopathic generalized 14 12 PE1 -NX_Q9H2Y7 208883 1883 6.73 15 Nucleus;Cytosol;Nucleolus;Nucleolus NA 0 PE1 -NX_Q9H2Y9 91864 848 7.96 8 Cell membrane NA 12 PE2 -NX_Q9H2Z4 36179 354 9.6 20 Nucleus;Nucleus NA 0 PE1 -NX_Q9H300 42190 379 9.82 3 Mitochondrion;Nucleus;Mitochondrion inner membrane NA 7 PE1 -NX_Q9H305 21892 208 5.55 16 Centrosome;Nucleoplasm;Lysosome membrane;Late endosome membrane NA 0 PE1 -NX_Q9H306 59026 513 8.83 11 Endoplasmic reticulum membrane NA 0 PE1 -NX_Q9H307 81614 717 6.71 14 Nucleus speckle;Nucleus speckle;Desmosome NA 0 PE1 -NX_Q9H310 47231 441 8.74 1 Nucleoplasm;Cytoplasmic vesicle membrane;Basolateral cell membrane NA 12 PE1 -NX_Q9H313 49051 450 4.88 19 Cell membrane NA 5 PE1 -NX_Q9H320 22289 206 4.37 X NA NA 0 PE2 -NX_Q9H321 26878 246 4.2 X NA NA 0 PE2 -NX_Q9H322 14661 139 6.18 X NA NA 0 PE2 -NX_Q9H324 120874 1103 8.34 19 Extracellular matrix;Cytosol Weill-Marchesani syndrome 1 0 PE1 -NX_Q9H329 99712 900 9.17 9 Cytoplasm;Cytosol;Cell membrane;Tight junction NA 0 PE1 -NX_Q9H330 100945 911 9.03 9 Cell membrane;Cytosol;Membrane NA 14 PE1 -NX_Q9H334 75317 677 6.2 3 Nucleoplasm;Nucleus Mental retardation with language impairment and autistic features 0 PE1 -NX_Q9H336 56888 500 8.47 8 Secreted NA 0 PE1 -NX_Q9H339 35241 312 8.59 11 Cell membrane NA 7 PE2 -NX_Q9H340 35269 312 9.26 11 Cell membrane NA 7 PE3 -NX_Q9H341 36669 326 9.1 11 Cell membrane NA 7 PE3 -NX_Q9H342 34838 316 8.5 11 Cell membrane NA 7 PE3 -NX_Q9H343 35484 314 9.22 11 Cell membrane NA 7 PE2 -NX_Q9H344 35002 312 8.98 11 Cell membrane NA 7 PE3 -NX_Q9H346 35122 318 8.57 11 Cell membrane NA 7 PE2 -NX_Q9H347 70841 655 5.01 11 NA NA 0 PE1 -NX_Q9H354 14747 126 10.34 10 Membrane NA 1 PE5 -NX_Q9H361 70031 631 9.68 13 Cytoplasm;Cytoplasm NA 0 PE1 -NX_Q9H379 10324 93 7.47 9 NA NA 0 PE5 -NX_Q9H3C7 79086 697 5.97 17 Cytoplasmic vesicle;Endoplasmic reticulum NA 0 PE1 -NX_Q9H3D4 76785 680 6.12 3 Nucleus;Nucleoplasm;Golgi apparatus;Cytosol Acro-dermato-ungual-lacrimal-tooth syndrome;Non-syndromic orofacial cleft 8;Ectodermal dysplasia, Rapp-Hodgkin type;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3;Limb-mammary syndrome;Ankyloblepharon-ectodermal defects-cleft lip/palate;Split-hand/foot malformation 4 0 PE1 -NX_Q9H3E2 97945 840 5.99 4 Cytoplasmic vesicle;Endosome membrane NA 0 PE1 -NX_Q9H3F6 35432 313 5.97 12 Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9H3G5 54164 476 5.39 7 Endoplasmic reticulum NA 0 PE1 -NX_Q9H3H1 52725 467 8.35 1 Cytosol;Nucleoplasm;Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q9H3H3 27355 251 5.28 11 Nucleus;Nucleolus NA 0 PE1 -NX_Q9H3H5 46090 408 8.25 11 Endoplasmic reticulum membrane Myasthenic syndrome, congenital, 13;Congenital disorder of glycosylation 1J 10 PE1 -NX_Q9H3H9 25850 227 5.79 X Cytosol;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9H3J6 18828 166 9.82 12 Mitochondrion;Nucleus;Mitochondrion;Cytosol Combined oxidative phosphorylation deficiency 7;Spastic paraplegia 55, autosomal recessive 0 PE1 -NX_Q9H3K2 37205 345 9.95 10 Mitochondrion;Mitochondrion inner membrane;Mitochondrion NA 7 PE1 -NX_Q9H3K6 10117 86 6.07 16 Cytoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H3L0 32940 296 5.16 2 Cytoplasm;Cytoplasm;Mitochondrion Methylmalonic aciduria and homocystinuria type cblD 0 PE1 -NX_Q9H3M0 55584 494 5.9 2 Membrane;Golgi apparatus NA 6 PE1 -NX_Q9H3M7 43661 391 7.46 1 Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q9H3M9 40747 355 4.87 X Nucleus NA 0 PE1 -NX_Q9H3N1 31791 280 4.91 14 Membrane;Endoplasmic reticulum membrane;Nucleolus;Endoplasmic reticulum NA 1 PE1 -NX_Q9H3N8 44496 390 9.62 18 Cell membrane NA 7 PE1 -NX_Q9H3P2 57277 528 9.1 4 Nucleus;Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9H3P7 60593 528 5.02 1 Golgi apparatus;Golgi apparatus membrane;Mitochondrion NA 0 PE1 -NX_Q9H3Q1 37980 356 5.05 17 Cytoskeleton;Endomembrane system;Cytoskeleton;Cell membrane;Cytoskeleton NA 0 PE1 -NX_Q9H3Q3 46110 398 10.03 2 Golgi stack membrane NA 1 PE1 -NX_Q9H3R0 119982 1056 6.06 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H3R1 100716 872 7.19 4 Golgi apparatus membrane NA 1 PE1 -NX_Q9H3R2 54604 512 4.91 3 Cell membrane;Apical cell membrane;Secreted NA 1 PE1 -NX_Q9H3R5 28481 247 5.23 5 Kinetochore;Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q9H3S1 83574 761 6.38 1 Nucleus;Cell membrane Retinitis pigmentosa 35;Cone-rod dystrophy 10 1 PE1 -NX_Q9H3S3 49560 457 6.24 11 Nucleoplasm;Cell membrane NA 1 PE1 -NX_Q9H3S4 27265 243 5.03 7 Cytoplasmic vesicle Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type 0 PE1 -NX_Q9H3S5 49460 423 9.26 1 Endoplasmic reticulum membrane Glycosylphosphatidylinositol deficiency 10 PE1 -NX_Q9H3S7 178974 1636 6.45 3 Nucleus;Nucleus;Early endosome;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Endosome;Cilium basal body NA 0 PE1 -NX_Q9H3T2 99686 930 8.36 1 Endoplasmic reticulum;Cell membrane NA 1 PE1 -NX_Q9H3T3 95285 888 8.83 19 Cell membrane NA 1 PE1 -NX_Q9H3U1 103077 944 5.8 15 Nucleus speckle;Cytosol;Perinuclear region;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9H3U5 51209 465 6.32 3 Endoplasmic reticulum;Nucleus;Nucleolus;Membrane NA 11 PE1 -NX_Q9H3U7 49674 446 8.8 6 Basement membrane Dentin dysplasia 1 0 PE1 -NX_Q9H3V2 22283 200 6.27 11 Membrane NA 4 PE2 -NX_Q9H3W5 79424 708 8.02 7 Cytosol;Nucleus;Membrane NA 1 PE2 -NX_Q9H3Y0 28605 253 9.25 20 Secreted NA 0 PE2 -NX_Q9H3Y6 54507 488 8.51 20 Cytosol;Cytoskeleton;Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q9H3Y8 11777 114 6.89 20 Nucleoplasm;Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q9H3Z4 22149 198 4.93 20 Membrane;Melanosome;Golgi apparatus;Cell membrane Ceroid lipofuscinosis, neuronal, 4B 0 PE1 -NX_Q9H3Z7 52555 469 8.9 20 Nucleoplasm NA 0 PE1 -NX_Q9H400 31288 295 9.7 20 Cell membrane NA 1 PE1 -NX_Q9H410 40067 356 6.57 20 Nucleus;Kinetochore;Nucleus NA 0 PE1 -NX_Q9H422 133743 1215 7.16 11 Nucleus;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9H425 36346 327 5.6 1 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9H426 29329 269 5.65 20 Synapse;Nucleoplasm NA 0 PE1 -NX_Q9H427 36130 330 9.89 20 Membrane NA 4 PE1 -NX_Q9H444 24950 224 4.76 20 Nucleus envelope;Cytosol;Late endosome membrane;Midbody Cataract 31, multiple types 0 PE1 -NX_Q9H446 27940 243 4.11 6 NA NA 0 PE1 -NX_Q9H461 73300 694 8.58 10 Endoplasmic reticulum;Membrane;Golgi apparatus;Cell membrane NA 7 PE1 -NX_Q9H467 32009 287 4.74 10 Nucleoplasm;Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_Q9H469 32998 300 7.13 10 Cytoplasm NA 0 PE1 -NX_Q9H477 34143 322 4.94 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H478 7384 68 9.59 11 NA NA 0 PE2 -NX_Q9H479 35171 309 7.13 17 Mitochondrion NA 0 PE1 -NX_Q9H488 43956 388 8.77 20 Centrosome;Endoplasmic reticulum Dowling-Degos disease 2 0 PE1 -NX_Q9H489 39573 355 8.24 20 NA NA 0 PE5 -NX_Q9H490 50052 435 7.59 20 Cytosol;Nucleoplasm;Endoplasmic reticulum membrane NA 9 PE1 -NX_Q9H492 14272 121 8.73 20 Cytoskeleton;Endomembrane system;Autophagosome membrane;Autophagosome NA 0 PE1 -NX_Q9H496 15348 131 6.88 1 NA NA 0 PE1 -NX_Q9H497 46199 397 5.67 1 Cytoplasm;Endoplasmic reticulum lumen NA 0 PE1 -NX_Q9H4A3 250794 2382 5.94 12 Cytoplasm;Cytosol Neuropathy, hereditary sensory and autonomic, 2A;Pseudohypoaldosteronism 2C 0 PE1 -NX_Q9H4A4 72596 650 5.51 1 Nucleoplasm;Golgi apparatus;Secreted NA 0 PE1 -NX_Q9H4A5 32767 285 5.62 1 Cytosol;Cell membrane;Nucleoplasm;Golgi stack membrane;trans-Golgi network membrane NA 0 PE1 -NX_Q9H4A6 33811 298 6.05 5 Cytoplasmic vesicle;Golgi stack membrane;trans-Golgi network membrane;Mitochondrion intermembrane space;Golgi apparatus;Cell membrane;Endosome NA 0 PE1 -NX_Q9H4A9 53306 486 5.97 16 Membrane NA 0 PE1 -NX_Q9H4B0 45123 414 8.83 2 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9H4B4 71629 646 9.28 1 Cytoplasm;Nucleus;Nucleolus;Golgi apparatus;Centrosome NA 0 PE1 -NX_Q9H4B6 44634 383 9.12 14 Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9H4B7 50327 451 5.05 20 Cytoplasm;Cytoskeleton Macrothrombocytopenia, autosomal dominant, TUBB1-related 0 PE1 -NX_Q9H4B8 53687 488 8.11 16 Membrane NA 0 PE1 -NX_Q9H4D0 107006 955 5.21 3 Cytoplasmic vesicle;Cell membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane NA 1 PE1 -NX_Q9H4D5 60102 531 6.29 X Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9H4E5 23821 214 6.37 14 Cell membrane;Nucleus;Nucleolus;Cell membrane NA 0 PE1 -NX_Q9H4E7 73910 631 5.78 6 Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;Cytoskeleton;Perinuclear region;Filopodium NA 0 PE1 -NX_Q9H4F1 34201 302 8.9 9 Nucleus;Golgi apparatus;Golgi apparatus membrane NA 1 PE1 -NX_Q9H4F8 48163 434 8.59 14 Basement membrane;Cell membrane Ophthalmoacromelic syndrome 0 PE1 -NX_Q9H4G0 98503 881 5.43 20 Cell membrane;Cytoskeleton Mental retardation, autosomal dominant 11 0 PE1 -NX_Q9H4G1 17276 147 5.93 20 Secreted NA 0 PE1 -NX_Q9H4G4 17218 154 9.44 9 Golgi apparatus membrane;Cytoskeleton;Cytoplasmic vesicle NA 0 PE1 -NX_Q9H4G8 8721 78 3.96 20 NA NA 0 PE5 -NX_Q9H4H8 64424 585 6.1 20 Cytoplasm;Spindle;Spindle pole NA 0 PE1 -NX_Q9H4I0 63324 556 5.07 20 Nucleus;Chromosome NA 0 PE2 -NX_Q9H4I2 104658 956 5.73 20 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9H4I3 42321 376 8.15 22 Nucleus;Mitochondrion NA 0 PE1 -NX_Q9H4I8 35369 314 6.3 22 Peroxisome;Perinuclear region NA 0 PE1 -NX_Q9H4I9 11441 107 6.56 22 Mitochondrion inner membrane;Nucleus;Mitochondrion NA 1 PE1 -NX_Q9H4K1 37060 309 9.57 22 NA NA 0 PE1 -NX_Q9H4K7 43955 406 9.52 20 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_Q9H4L4 65010 574 8.82 17 Nucleus;Nucleolus;Nucleus;Nucleoplasm;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q9H4L5 101224 887 6.42 7 Cytosol;Nucleolus;Endoplasmic reticulum membrane;Cytosol;Cell membrane;Filopodium tip;Nucleus membrane NA 0 PE1 -NX_Q9H4L7 117402 1026 5.39 4 Nucleus;Chromosome;Nucleoplasm Adermatoglyphia;Basan syndrome 0 PE1 -NX_Q9H4M3 29747 255 5.52 1 Nucleoplasm NA 0 PE1 -NX_Q9H4M7 85401 779 10.57 19 Cytosol;Cell membrane;Centrosome;Cytoskeleton;Cytoplasm;Membrane NA 0 PE1 -NX_Q9H4M9 60627 534 6.35 11 Recycling endosome membrane;Cilium membrane;Cell membrane;Early endosome membrane NA 0 PE1 -NX_Q9H4P4 35905 317 5.75 12 Midbody ring;Nucleus;Nucleus NA 0 PE1 -NX_Q9H4Q3 73981 707 9 6 Nucleus NA 0 PE2 -NX_Q9H4Q4 40403 367 8.58 9 Nucleus;Nucleus Neuropathy, hereditary sensory and autonomic, 8 0 PE1 -NX_Q9H4R4 11336 102 6.96 20 NA NA 0 PE5 -NX_Q9H4S2 27883 264 9.17 13 Nucleus NA 0 PE2 -NX_Q9H4T2 40792 348 8.36 6 Nucleus;Nucleus NA 0 PE1 -NX_Q9H4W6 64864 596 8.91 10 Nucleus Hypotonia, ataxia, and delayed development syndrome 0 PE1 -NX_Q9H4X1 14559 137 4.59 13 Cytoplasm;Nucleus;Centrosome;Nucleus;Nucleolus NA 0 PE1 -NX_Q9H4Y5 28254 243 7.51 10 Nucleolus;Nucleus NA 0 PE1 -NX_Q9H4Z2 144893 1342 5.97 20 Nucleus;Nucleoplasm Microcephaly 10, primary, autosomal recessive 0 PE1 -NX_Q9H4Z3 80670 704 7.09 20 Nucleus;Nucleoplasm;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q9H501 98796 851 5.01 20 Nucleoplasm;Nucleus;Nucleolus;Nucleolus NA 0 PE1 -NX_Q9H503 10309 90 5.5 20 Nucleus;Cytoplasm NA 0 PE1 -NX_Q9H511 70246 634 6.3 6 Nucleus NA 0 PE1 -NX_Q9H521 9322 79 4.71 13 NA NA 0 PE5 -NX_Q9H553 47092 416 6.61 9 Membrane;Cytosol;Cytoskeleton Myasthenic syndrome, congenital, 14;Congenital disorder of glycosylation 1I 1 PE1 -NX_Q9H560 30436 264 9.15 9 NA NA 0 PE5 -NX_Q9H568 41360 366 5.78 1 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9H579 54816 483 5.96 20 Nucleus NA 0 PE1 -NX_Q9H582 149565 1327 8.43 1 Cytoplasmic vesicle;Nucleus Myopia 21, autosomal dominant 0 PE1 -NX_Q9H583 242370 2144 6.11 1 Nucleolus;Mitochondrion;Nucleolus NA 0 PE1 -NX_Q9H596 21529 190 8.95 X Cytoplasm;Mitochondrion inner membrane;Nucleus NA 0 PE1 -NX_Q9H598 57415 525 6.19 20 Cytoplasmic vesicle membrane NA 10 PE1 -NX_Q9H5F2 17785 150 8.68 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H5H4 60229 540 8.27 16 Cytoplasmic vesicle;Nucleus;Nucleus NA 0 PE1 -NX_Q9H5I1 46682 410 8.55 10 Nucleus;Centromere;Mitochondrion NA 0 PE1 -NX_Q9H5I5 318064 2752 5.82 18 Membrane;Cytoplasmic vesicle Arthrogryposis, distal, 3;Marden-Walker syndrome;Arthrogryposis, distal, with impaired proprioception and touch;Arthrogryposis, distal, 5 37 PE1 -NX_Q9H5J0 61827 574 5.4 11 Nucleus;Mitochondrion NA 0 PE1 -NX_Q9H5J4 31376 265 9.42 4 Endoplasmic reticulum membrane NA 7 PE1 -NX_Q9H5J8 32058 278 8.8 11 Nucleus;Microtubule organizing center;Nucleoplasm NA 0 PE1 -NX_Q9H5K3 40050 350 5.68 8 Cytosol;Endoplasmic reticulum membrane;Nucleus Muscular dystrophy-dystroglycanopathy limb-girdle C12;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 1 PE1 -NX_Q9H5L6 103411 903 9.26 4 Mitochondrion NA 0 PE1 -NX_Q9H5L9 15570 145 8.9 5 NA NA 0 PE5 -NX_Q9H5N1 63543 569 4.76 16 Cytosol;Early endosome;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q9H5P4 55677 517 9.11 10 Cilium;Nucleus Usher syndrome 2A;Usher syndrome 2C 0 PE1 -NX_Q9H5Q4 45349 396 9.3 1 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9H5U6 59010 513 9.06 4 Nucleus speckle;Golgi apparatus NA 0 PE1 -NX_Q9H5V7 46510 419 7.09 10 Nucleus;Cell membrane;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9H5V8 92932 836 8.28 3 Cell membrane;Secreted NA 1 PE1 -NX_Q9H5V9 25625 222 8.94 X Centrosome;Nucleus NA 0 PE1 -NX_Q9H5X1 18355 160 4.88 15 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9H5Y7 95110 841 6.07 13 Endoplasmic reticulum;Cell membrane;Cell membrane Deafness and myopia 1 PE1 -NX_Q9H5Z1 78910 703 8.81 20 Centrosome;Nucleus;Nucleus NA 0 PE1 -NX_Q9H5Z6 50961 455 6.86 2 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9H606 19976 182 10.13 Y NA NA 0 PE2 -NX_Q9H607 29404 264 10.01 19 Golgi apparatus NA 0 PE2 -NX_Q9H609 18890 170 8.79 19 Nucleus;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q9H611 69799 641 9.81 15 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H628 23855 205 9.56 12 NA NA 0 PE2 -NX_Q9H633 17570 154 9.64 6 Nucleolus NA 0 PE1 -NX_Q9H649 38244 340 9.09 3 Nucleus membrane;Mitochondrion matrix;Nucleoplasm NA 0 PE1 -NX_Q9H665 37895 355 6.7 19 Focal adhesion;Cell membrane NA 1 PE1 -NX_Q9H668 42119 368 5.72 10 Nucleus;Nucleus;Telomere Cerebroretinal microangiopathy with calcifications and cysts 2 0 PE1 -NX_Q9H672 36011 318 8.57 15 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9H693 16793 158 9.83 16 Endoplasmic reticulum NA 0 PE1 -NX_Q9H694 104844 974 8.75 10 Nucleoplasm;Cytoplasm Renal dysplasia, cystic 0 PE1 -NX_Q9H6A0 53672 471 7.55 1 Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9H6A9 222039 2034 6.19 11 Cytosol;Membrane NA 13 PE1 -NX_Q9H6B1 42296 395 10.04 3 Nucleus NA 0 PE1 -NX_Q9H6B4 41281 373 8.11 11 Tight junction;Cell membrane Congenital short bowel syndrome 1 PE1 -NX_Q9H6B9 40909 360 7.67 19 Microsome membrane NA 1 PE1 -NX_Q9H6D3 44655 395 7.62 1 Endoplasmic reticulum;Golgi apparatus;Cell membrane NA 8 PE1 -NX_Q9H6D7 42400 363 5.52 14 Cell membrane;Focal adhesion;Centrosome;Spindle NA 0 PE1 -NX_Q9H6D8 25159 234 8.39 2 Membrane;Cytosol;Nucleoplasm;Secreted NA 1 PE2 -NX_Q9H6E4 26561 229 8.89 22 Endoplasmic reticulum;Nucleus;Cytoplasm;Secreted NA 0 PE1 -NX_Q9H6E5 93847 874 5.8 11 Cytosol;Nucleolus;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9H6F2 33260 299 8.56 19 Nucleus;Sarcoplasmic reticulum membrane;Nucleus membrane NA 7 PE1 -NX_Q9H6F5 40236 360 10.33 11 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q9H6H4 29395 257 9.74 8 Cytosol;Endoplasmic reticulum membrane NA 2 PE1 -NX_Q9H6I2 44117 414 6 8 Nucleus;Nucleoplasm Vesicoureteral reflux 3 0 PE1 -NX_Q9H6J7 37353 331 5.16 11 Nucleus;Cytoplasm;Nucleus speckle NA 0 PE1 -NX_Q9H6K1 32872 298 4.43 6 Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9H6K4 19996 179 9.07 19 Cytosol;Mitochondrion;Nucleoplasm Optic atrophy 3;3-methylglutaconic aciduria 3 0 PE1 -NX_Q9H6K5 132748 1346 10.48 19 Golgi apparatus;Nucleus NA 0 PE1 -NX_Q9H6L2 36059 316 7.76 16 Cilium membrane;Cytoplasmic vesicle Meckel syndrome 11;Joubert syndrome 20 2 PE1 -NX_Q9H6L4 21924 198 5.73 17 Cytosol NA 0 PE1 -NX_Q9H6L5 54681 497 4.53 5 Nucleus;Endoplasmic reticulum;cis-Golgi network membrane;Endoplasmic reticulum membrane Neuropathy, hereditary sensory and autonomic, 2B 4 PE1 -NX_Q9H6N6 128290 1097 5.4 7 NA NA 0 PE1 -NX_Q9H6P5 44455 420 7.89 20 Cell membrane NA 0 PE1 -NX_Q9H6Q3 28585 261 5.23 20 Cytoplasmic vesicle;Cytoplasmic vesicle;Cell membrane;Cytoplasm;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q9H6Q4 53020 476 6.81 16 Cell membrane;Cytosol NA 0 PE1 -NX_Q9H6R0 78874 707 9.08 17 Nucleolus;Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q9H6R3 74778 686 8.84 12 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9H6R4 127593 1146 7.42 9 Nucleolus;Chromosome;Nucleolus;Mitochondrion;Nucleus NA 0 PE1 -NX_Q9H6R6 47663 413 8.81 10 Endoplasmic reticulum membrane NA 4 PE1 -NX_Q9H6R7 79136 721 6.23 2 Nucleolus;Cytosol NA 0 PE1 -NX_Q9H6S0 160248 1430 8.68 5 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9H6S1 44935 392 6.15 3 Cytoplasm NA 0 PE1 -NX_Q9H6S3 80621 715 6.39 11 Cytosol;Cytoplasm;Cell membrane;Stereocilium Deafness, autosomal recessive, 106 0 PE1 -NX_Q9H6T0 78401 727 6.27 16 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9H6T3 75719 665 6.46 12 Cytosol NA 0 PE1 -NX_Q9H6U6 101237 928 6.23 17 Nucleus;Cytoplasm;Nucleolus;Cytoskeleton NA 0 PE1 -NX_Q9H6U8 69863 611 8.91 11 Endoplasmic reticulum;Endoplasmic reticulum membrane;Endoplasmic reticulum Gillessen-Kaesbach-Nishimura syndrome;Congenital disorder of glycosylation 1L 8 PE1 -NX_Q9H6V9 37319 325 6.09 2 Cytosol;Lipid droplet;Endoplasmic reticulum;Nucleus speckle NA 0 PE1 -NX_Q9H6W3 71086 641 6.02 14 Nucleolus;Nucleolus;Nucleoplasm NA 0 PE1 -NX_Q9H6X2 62789 564 7.54 2 Cytoplasmic vesicle;Filopodium membrane;Lamellipodium membrane;Cell membrane Hemangioma, capillary infantile;GAPO syndrome 1 PE1 -NX_Q9H6X4 21586 195 6.08 11 Cytosol;Membrane;Perinuclear region NA 2 PE1 -NX_Q9H6X5 71343 657 5.52 19 Nucleus;Nucleus NA 0 PE1 -NX_Q9H6Y2 42070 383 4.78 5 Nucleolus;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9H6Y5 35217 334 10.82 X NA NA 0 PE1 -NX_Q9H6Y7 38299 350 5.37 17 Cytosol;Endomembrane system NA 1 PE1 -NX_Q9H6Z4 60210 567 4.7 19 Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9H6Z9 27261 239 7.56 14 Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9H706 97186 876 6.32 18 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9H707 46198 407 8.84 19 Nucleus NA 0 PE1 -NX_Q9H714 73457 662 5.69 13 Cytosol NA 0 PE1 -NX_Q9H720 78584 699 8.75 4 Membrane NA 10 PE1 -NX_Q9H741 23594 205 8.49 12 Secreted NA 0 PE1 -NX_Q9H756 42334 370 5.01 9 Membrane NA 1 PE1 -NX_Q9H765 31642 288 5.58 12 Cytoplasm NA 0 PE1 -NX_Q9H772 19320 168 9.36 1 Secreted Tooth agenesis, selective, 9 0 PE1 -NX_Q9H773 18681 170 4.93 16 Cytosol;Cytosol;Nucleus;Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q9H777 40019 363 6.32 18 Cytosol;Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q9H788 52727 454 8.09 8 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9H790 41816 373 5.28 1 Cytosol;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9H792 193106 1746 6.46 15 Cytoskeleton;Focal adhesion NA 0 PE1 -NX_Q9H799 361746 3197 6.55 5 Cytosol;Membrane;Cilium Orofaciodigital syndrome 6;Joubert syndrome 17 2 PE1 -NX_Q9H7B2 35583 306 10 6 Nucleus;Nucleolus;Nucleolus;Nucleus;Nucleolus NA 0 PE1 -NX_Q9H7B4 49097 428 7.05 1 Cytoplasm;Nucleus;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q9H7B7 14425 122 9.47 7 Secreted NA 0 PE2 -NX_Q9H7C4 55299 482 4.59 1 Perinuclear region;Cell membrane;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q9H7C9 13332 122 8.58 11 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9H7D0 215309 1870 8.08 8 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9H7D7 72124 661 5.74 1 Cytosol;Nucleoplasm;Mitochondrion;Cytoplasm Skraban-Deardorff syndrome 0 PE1 -NX_Q9H7E2 73185 651 9.27 13 Nucleus;Cytoplasm;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9H7E9 24993 229 9.99 8 Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9H7F0 138043 1226 6.21 3 Cell membrane;Cytosol;Membrane;Nucleolus NA 11 PE1 -NX_Q9H7F4 40599 350 7.66 2 Membrane NA 7 PE1 -NX_Q9H7H0 50734 456 9.45 14 Mitochondrion;Nucleus NA 0 PE1 -NX_Q9H7J1 30644 279 11.16 14 Mitochondrion;Cytoskeleton NA 0 PE1 -NX_Q9H7L2 38777 352 8.69 19 Secreted NA 0 PE5 -NX_Q9H7L9 38136 328 5.55 12 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q9H7M6 110138 989 6.63 19 NA NA 0 PE2 -NX_Q9H7M9 33908 311 6.45 10 Nucleoplasm;Cell membrane NA 1 PE1 -NX_Q9H7N4 139270 1312 9.31 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H7P6 35620 319 8.42 9 Cytoplasmic vesicle;Golgi apparatus;Late endosome membrane;Endosome NA 0 PE1 -NX_Q9H7P9 147969 1386 5.57 19 Cytosol;Nucleoplasm Leukodystrophy and acquired microcephaly with or without dystonia 0 PE1 -NX_Q9H7R0 72863 627 9.03 19 Cytoplasmic vesicle;Nucleus;Nucleus membrane NA 0 PE2 -NX_Q9H7R5 70223 613 9.4 19 Nucleus membrane;Nucleus NA 0 PE1 -NX_Q9H7S9 58222 590 8.99 8 Nucleus;Cytoplasm NA 0 PE1 -NX_Q9H7T0 126924 1116 6.72 14 Membrane;Cytoplasmic vesicle NA 4 PE1 -NX_Q9H7T3 26270 257 11.69 10 NA NA 0 PE1 -NX_Q9H7T9 40253 357 7.19 1 Centrosome;Spindle pole;Centrosome NA 0 PE1 -NX_Q9H7U1 93548 834 6.4 10 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9H7V2 28551 258 4.74 20 Cell membrane;Early endosome membrane;Postsynaptic density;Synapse;Dendrite;Dendritic spine;Cytoplasmic vesicle NA 1 PE1 -NX_Q9H7X0 27451 242 7.21 16 Cytosol;Cytoskeleton;Golgi apparatus membrane NA 0 PE1 -NX_Q9H7X2 15517 142 9.87 1 Membrane NA 1 PE2 -NX_Q9H7X3 40575 374 9.26 8 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q9H7X7 20835 185 5.03 7 Cytoskeleton;Cytosol;Cilium NA 0 PE1 -NX_Q9H7Y0 48555 433 8.11 X Secreted NA 0 PE1 -NX_Q9H7Z3 132673 1164 7.72 14 Nucleus;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q9H7Z6 52403 458 8.48 16 Nucleoplasm;Chromosome;Nucleus NA 0 PE1 -NX_Q9H7Z7 41943 377 9.22 9 Mitochondrion;Golgi apparatus membrane;Perinuclear region NA 1 PE1 -NX_Q9H808 63473 572 5.78 19 Cytoplasm Preimplantation embryonic lethality 1 0 PE1 -NX_Q9H813 40043 350 9.01 1 Membrane NA 2 PE1 -NX_Q9H814 44403 394 5.27 5 Nucleoplasm;Nucleoplasm;Cajal body;Cytoplasm NA 0 PE1 -NX_Q9H816 60002 532 8.64 1 Nucleus;Telomere;Nucleoplasm;Nucleus;Centrosome Hoyeraal-Hreidarsson syndrome 0 PE1 -NX_Q9H819 41551 358 7.04 5 Cell junction;Membrane NA 1 PE1 -NX_Q9H825 33387 291 6.46 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H832 38210 354 5.37 17 Cytosol;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9H840 14537 131 6.83 19 Nucleus;Cytosol;Cytoplasm;Nucleoplasm;Gem NA 0 PE1 -NX_Q9H841 40785 368 9.05 8 Membrane NA 9 PE1 -NX_Q9H845 68760 621 8.15 3 Mitochondrion;Mitochondrion Acyl-CoA dehydrogenase family, member 9, deficiency 0 PE1 -NX_Q9H853 27551 241 7.71 2 Cytoskeleton NA 0 PE5 -NX_Q9H857 60719 520 6.3 3 NA NA 0 PE1 -NX_Q9H867 25807 229 4.83 14 Cytoplasm NA 0 PE1 -NX_Q9H869 87944 796 8.04 1 Nucleolus;Cytoplasm;Nucleus;Nucleolus;Nucleoplasm Grange syndrome 0 PE1 -NX_Q9H871 43993 391 5.71 2 Nucleoplasm NA 0 PE1 -NX_Q9H875 20997 184 9.78 7 Cytosol;Nucleolus;Cytoskeleton NA 0 PE1 -NX_Q9H892 78756 705 5.5 11 Nucleoplasm NA 0 PE1 -NX_Q9H898 25833 229 9.49 8 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q9H8E8 88844 782 6.14 20 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H8G1 66319 570 8.94 19 Nucleus NA 0 PE1 -NX_Q9H8G2 38368 361 4.63 9 Cytoplasmic vesicle NA 0 PE1 -NX_Q9H8H0 81124 719 5.74 17 Nucleolus;Nucleolus NA 0 PE1 -NX_Q9H8H2 94087 851 10.01 9 Golgi apparatus;Nucleolus;Nucleolus;Cytoplasmic vesicle NA 0 PE1 -NX_Q9H8H3 28319 244 8.7 12 Lipid droplet;Endoplasmic reticulum;Membrane;Lipid droplet NA 0 PE1 -NX_Q9H8J5 46810 431 6.09 12 Membrane;Cytoplasmic vesicle;Golgi apparatus NA 1 PE1 -NX_Q9H8K7 49249 445 5.85 10 NA NA 0 PE1 -NX_Q9H8L6 104409 949 5.56 10 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_Q9H8M1 27071 238 9.67 2 Mitochondrion inner membrane;Cytosol NA 0 PE1 -NX_Q9H8M2 67000 597 5.81 5 Nucleoplasm NA 0 PE1 -NX_Q9H8M5 96623 875 6 10 Cytoplasmic vesicle;Cell membrane Hypomagnesemia 6;Hypomagnesemia, seizures, and mental retardation 3 PE1 -NX_Q9H8M7 49725 445 4.69 10 Nucleus membrane;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9H8M9 17470 152 6.44 2 Endoplasmic reticulum membrane;Cell membrane;Lysosome membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q9H8N7 54939 513 7.17 8 Nucleus;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H8P0 36521 318 9.49 4 Cell membrane;Cytosol;Endoplasmic reticulum membrane Congenital disorder of glycosylation 1Q;Kahrizi syndrome 6 PE1 -NX_Q9H8Q6 16103 139 9.14 15 NA NA 0 PE5 -NX_Q9H8S5 33574 307 8.96 19 NA NA 0 PE2 -NX_Q9H8S9 25080 216 6.45 2 NA NA 0 PE1 -NX_Q9H8T0 33128 292 9.34 16 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9H8U3 25184 227 7.43 6 Nucleus;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q9H8V3 103505 914 7.77 3 Nucleus;Cell junction;Midbody;Cleavage furrow;Spindle;Tight junction;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9H8V8 14815 135 11.93 4 NA NA 0 PE5 -NX_Q9H8W2 13851 130 12.08 6 NA NA 0 PE5 -NX_Q9H8W3 27021 233 7.69 10 Nucleus;Nucleolus NA 0 PE1 -NX_Q9H8W4 27798 249 8.55 8 Endosome;Early endosome membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q9H8W5 64359 580 8.26 1 Cytosol;Cytoplasm;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q9H8X2 56017 491 8.67 9 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H8X3 13648 128 8.17 6 NA NA 0 PE5 -NX_Q9H8X9 45975 412 8.65 5 Membrane NA 4 PE1 -NX_Q9H8Y1 78260 702 9.17 14 Nucleoplasm NA 0 PE1 -NX_Q9H8Y5 80927 726 8.69 2 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9H8Y8 47145 452 4.73 2 Golgi apparatus;Golgi apparatus membrane;Membrane;Membrane NA 0 PE1 -NX_Q9H900 67214 591 5.85 15 Kinetochore NA 0 PE1 -NX_Q9H902 22255 201 9.52 2 Membrane;Mitochondrion membrane;Endoplasmic reticulum Spastic paraplegia 31, autosomal dominant;Neuronopathy, distal hereditary motor, 5B 2 PE1 -NX_Q9H903 37315 347 9.38 4 Cytoplasm;Mitochondrion inner membrane NA 0 PE1 -NX_Q9H910 20063 190 9.3 16 Cytosol;Nucleus;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9H920 37882 327 6.6 11 Membrane;Nucleus;Cytoplasmic vesicle;Golgi apparatus NA 6 PE1 -NX_Q9H930 67005 580 8.79 2 Nucleoplasm NA 0 PE1 -NX_Q9H936 34470 323 9.42 11 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane Epileptic encephalopathy, early infantile, 3 6 PE1 -NX_Q9H939 38858 334 8.72 18 Membrane;Mitochondrion;Cell membrane;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9H944 23222 212 6.42 6 Nucleus;Nucleoplasm;Centrosome NA 0 PE1 -NX_Q9H963 15019 129 9.39 19 Nucleus NA 0 PE5 -NX_Q9H967 69769 626 9.35 15 Nucleolus;Nucleus NA 0 PE1 -NX_Q9H972 58697 538 5.71 14 Secreted;Cell membrane;Nucleus NA 0 PE1 -NX_Q9H974 46713 415 6.36 3 Cytoplasm;Mitochondrion outer membrane;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q9H977 35891 334 5.77 2 Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_Q9H981 70484 624 7.86 3 Centrosome;Nucleus;Nucleus;Chromosome NA 0 PE1 -NX_Q9H987 102481 977 9.77 10 Nucleus speckle;Cell junction;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9H992 78051 704 6.32 2 Cytosol;Cell membrane NA 0 PE1 -NX_Q9H993 51172 441 5.48 6 Nucleus;Nucleus;Cytosol NA 0 PE1 -NX_Q9H999 41094 370 6.13 5 Golgi apparatus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9H9A5 82310 744 7.95 3 Nucleoplasm;Centrosome;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H9A6 68250 602 6.04 1 Nucleolus NA 0 PE1 -NX_Q9H9A7 70144 625 4.86 9 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q9H9B1 141466 1298 5.5 9 Nucleus;Chromosome;Nucleus;Nucleoplasm Kleefstra syndrome 0 PE1 -NX_Q9H9B4 35619 322 9.22 5 Mitochondrion membrane;Mitochondrion NA 5 PE1 -NX_Q9H9C1 57005 493 6.94 14 Cytoplasm;Cytoplasmic vesicle;Early endosome;Recycling endosome;Late endosome Arthrogryposis, renal dysfunction and cholestasis syndrome 2 0 PE1 -NX_Q9H9D4 78439 720 6.88 11 Microtubule organizing center;Cytosol;Nucleus Retinitis pigmentosa 72;Vitreoretinopathy, exudative 6 0 PE1 -NX_Q9H9E1 34272 313 4.99 5 Cytoskeleton;Cell junction;Cell membrane;Membrane NA 0 PE1 -NX_Q9H9E3 89083 785 5.09 16 Cytoplasmic vesicle;Golgi apparatus;Golgi apparatus membrane Congenital disorder of glycosylation 2J 0 PE1 -NX_Q9H9F9 68297 607 5.17 20 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H9G7 97360 860 9.26 1 Nucleoplasm;Cytosol;P-body NA 0 PE1 -NX_Q9H9H4 31307 285 6.78 12 Late endosome membrane NA 0 PE1 -NX_Q9H9H5 21005 199 10.08 3 Cytoskeleton;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q9H9J2 37535 332 8.65 2 Cell membrane;Nucleus;Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 16 0 PE1 -NX_Q9H9J4 145392 1324 8.87 7 Nucleus NA 0 PE1 -NX_Q9H9K5 63547 563 8.16 4 Nucleus;Membrane;Virion;Cytosol NA 1 PE1 -NX_Q9H9L3 39154 353 9.94 1 Nucleolus;Nucleoplasm NA 0 PE1 -NX_Q9H9L4 55042 492 6.18 12 Cytosol;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9H9L7 21867 192 8.91 1 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9H9P2 30431 273 6.38 21 Cytoplasm;Membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q9H9P5 73828 680 8.42 16 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H9P8 50316 463 8.45 14 Mitochondrion;Mitochondrion L-2-hydroxyglutaric aciduria 0 PE1 -NX_Q9H9Q2 29622 264 5.83 2 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9H9Q4 33337 299 5.65 2 Nucleus;Nucleolus;Nucleus Severe combined immunodeficiency due to NHEJ1 deficiency 0 PE1 -NX_Q9H9R9 17042 158 4.26 16 Nucleus speckle;Cytosol NA 0 PE1 -NX_Q9H9S0 34620 305 6.32 12 Nucleus NA 0 PE1 -NX_Q9H9S3 52248 476 8.31 10 Endoplasmic reticulum membrane NA 10 PE1 -NX_Q9H9S4 39088 337 8.49 13 Cytoplasmic vesicle NA 0 PE1 -NX_Q9H9S5 54568 495 7.05 19 Nucleus;Golgi apparatus;Cytosol;Secreted;Rough endoplasmic reticulum;Golgi apparatus membrane;Sarcolemma Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5;Muscular dystrophy-dystroglycanopathy limb-girdle C5;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 1 PE1 -NX_Q9H9T3 62259 547 9.04 8 Cytoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9H9V4 17475 155 8.21 8 Golgi apparatus;Endoplasmic reticulum;Membrane NA 1 PE1 -NX_Q9H9V9 52493 463 5.79 1 Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q9H9Y2 40111 349 10.01 1 Nucleolus;Nucleolus NA 0 PE1 -NX_Q9H9Y4 34561 310 5.07 1 NA NA 0 PE1 -NX_Q9H9Y6 128229 1135 8.07 2 Nucleolus;Cytosol;Nucleolus NA 0 PE1 -NX_Q9H9Z2 22743 209 8.35 1 Cytoplasm;Nucleoplasm;Nucleolus;Rough endoplasmic reticulum NA 0 PE1 -NX_Q9HA38 32059 289 9.12 3 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9HA47 31435 277 6.8 9 Nucleus NA 0 PE1 -NX_Q9HA64 34412 309 6.84 17 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9HA65 72728 648 5.05 19 Autophagosome NA 0 PE1 -NX_Q9HA72 36175 323 7.61 10 Cytosol;Mitochondrion;Nucleoplasm;Membrane NA 4 PE1 -NX_Q9HA77 62224 564 8.58 13 Nucleoplasm;Mitochondrion;Mitochondrion matrix Combined oxidative phosphorylation deficiency 27 0 PE1 -NX_Q9HA82 46399 394 9.19 19 Endoplasmic reticulum;Nucleus;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Nucleus membrane NA 6 PE1 -NX_Q9HA90 65701 598 5.44 3 NA NA 0 PE1 -NX_Q9HA92 48714 442 7.7 17 Cytosol;Mitochondrion;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9HAA7 14475 133 9.61 21 NA NA 0 PE5 -NX_Q9HAB3 45777 445 6.73 8 Cell membrane Brown-Vialetto-Van Laere syndrome 2 11 PE1 -NX_Q9HAB8 34005 311 6.26 1 Mitochondrion;Nucleus;Nucleolus NA 0 PE1 -NX_Q9HAC7 48462 445 8.54 7 Mitochondrion Glutaric aciduria 3 0 PE1 -NX_Q9HAC8 25938 227 7.69 10 Cytosol;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q9HAD4 51728 459 5.25 5 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9HAE3 24488 211 4.91 8 Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9HAF1 21635 191 9.32 1 Nucleus;Nucleolus;Kinetochore;Nucleoplasm NA 0 PE1 -NX_Q9HAH1 51581 456 9.94 19 Nucleus;Nucleus NA 0 PE1 -NX_Q9HAH7 48388 460 9.96 16 Nucleoplasm NA 0 PE1 -NX_Q9HAI6 33894 301 4.94 X NA NA 0 PE1 -NX_Q9HAJ7 20877 183 9.43 5 Nucleolus;Nucleus;Nucleolus NA 0 PE1 -NX_Q9HAK2 62650 575 9.21 8 Nucleus NA 0 PE1 -NX_Q9HAN9 31932 279 8.98 1 Nucleus;Nucleoplasm;Nucleus Leber congenital amaurosis 9 0 PE1 -NX_Q9HAP2 101185 919 8.61 12 Cytoplasm;Nucleus;Mitochondrion outer membrane NA 0 PE1 -NX_Q9HAP6 22896 207 8.71 19 Cell membrane;Cell membrane;Basolateral cell membrane;Synaptosome;Cell junction;Postsynaptic density;Tight junction NA 0 PE1 -NX_Q9HAQ2 89986 790 6.71 3 Nucleus;Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q9HAR2 161812 1447 5.99 4 Axon;Cell membrane;Cell junction NA 7 PE1 -NX_Q9HAS0 44622 396 4.98 17 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q9HAS3 76930 691 7.56 9 Cell membrane;Endoplasmic reticulum membrane NA 13 PE1 -NX_Q9HAT0 23893 212 5.52 3 Flagellum NA 0 PE1 -NX_Q9HAT1 57129 526 7.73 15 Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE2 -NX_Q9HAT2 58315 523 6.93 11 Lysosome;Secreted Autoimmune disease 6 0 PE1 -NX_Q9HAT8 46435 420 6.97 14 Nucleolus;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9HAU0 127464 1116 7.2 12 Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9HAU4 86196 748 8.18 17 Nucleus speckle;Nucleus;Cytoplasm;Membrane raft;Cell membrane NA 0 PE1 -NX_Q9HAU5 147810 1272 5.5 10 Cytoplasm;Cytosol;Perinuclear region;Cytosol NA 0 PE1 -NX_Q9HAU6 15994 139 5.42 8 NA NA 0 PE5 -NX_Q9HAU8 80000 725 5.06 2 Nucleus;Nucleolus NA 0 PE1 -NX_Q9HAV0 37567 340 5.59 3 NA Charcot-Marie-Tooth disease, dominant, intermediate type, F 0 PE1 -NX_Q9HAV4 136311 1204 5.56 6 Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9HAV5 32759 297 4.91 X Cell junction;Membrane NA 1 PE1 -NX_Q9HAV7 24279 217 8.24 4 Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_Q9HAW0 46533 419 8.29 8 Nucleus;Nucleolus NA 0 PE1 -NX_Q9HAW4 151094 1339 4.74 1 Nucleoplasm;Golgi apparatus;Nucleus NA 0 PE1 -NX_Q9HAW7 59819 530 7.88 2 Endoplasmic reticulum membrane;Microsome NA 1 PE1 -NX_Q9HAW8 59810 530 6.88 2 Microsome;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9HAW9 59742 530 7.6 2 Endoplasmic reticulum membrane;Microsome NA 1 PE1 -NX_Q9HAY2 35222 307 9.71 3 Cytoskeleton NA 0 PE1 -NX_Q9HAY6 62637 547 6.21 16 Microtubule organizing center;Cytoskeleton Hypercarotenemia and vitamin A deficiency, autosomal dominant 0 PE1 -NX_Q9HAZ1 57492 481 8.92 5 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9HAZ2 140251 1276 5.81 1 Nucleoplasm;Nucleus Left ventricular non-compaction 8;Cardiomyopathy, dilated 1LL 0 PE1 -NX_Q9HB03 31500 270 9.55 10 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cytosol NA 7 PE1 -NX_Q9HB07 42449 376 6.19 12 Nucleus;Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q9HB09 36821 334 9.45 19 Cytosol NA 0 PE1 -NX_Q9HB14 45391 408 8.73 14 Membrane;Cell junction;Nucleus speckle NA 4 PE1 -NX_Q9HB15 46889 430 9.89 2 Membrane NA 4 PE1 -NX_Q9HB19 47255 425 8.92 8 Nucleus;Nucleus;Cytosol;Cytoplasm;Cell membrane;Nucleus NA 0 PE1 -NX_Q9HB20 33861 300 6.19 2 trans-Golgi network membrane;Golgi apparatus NA 0 PE1 -NX_Q9HB21 45553 404 8.77 10 Cytoplasm;Cell membrane;Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q9HB29 65405 575 7.24 2 Membrane NA 1 PE1 -NX_Q9HB31 22879 216 9.12 17 Nucleus NA 0 PE3 -NX_Q9HB40 50831 452 5.6 17 Secreted;Golgi apparatus NA 0 PE1 -NX_Q9HB55 57670 503 8.27 7 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_Q9HB58 78396 689 9.1 2 Nucleus;Nucleus Hepatic venoocclusive disease with immunodeficiency 0 PE1 -NX_Q9HB63 70071 628 8.44 12 Basement membrane NA 0 PE1 -NX_Q9HB65 45361 397 5.73 15 Nucleus;Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q9HB71 26210 228 8.28 1 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9HB75 99712 910 6.01 11 Cytoplasm;Cytosol;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9HB89 47351 426 9.06 2 Cell membrane NA 7 PE2 -NX_Q9HB90 44224 399 4.94 1 Nucleus;Nucleus;Lysosome;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q9HB96 58711 536 5.17 6 Nucleoplasm;Nucleus Fanconi anemia complementation group E 0 PE1 -NX_Q9HBA0 98281 871 7.83 12 Cell membrane;Cilium;Adherens junction;Apical cell membrane Parastremmatic dwarfism;Metatropic dysplasia;Scapuloperoneal spinal muscular atrophy;Spondylometaphyseal dysplasia Kozlowski type;Brachyolmia 3;Avascular necrosis of the femoral head, primary 2;Digital arthropathy-brachydactyly, familial;Spondyloepiphyseal dysplasia Maroteaux type;Neuronopathy, distal hereditary motor, 8;Charcot-Marie-Tooth disease 2C 6 PE1 -NX_Q9HBA9 50045 442 6.53 11 Cytoplasm NA 0 PE2 -NX_Q9HBB8 88223 845 4.81 11 Microvillus membrane;Apical cell membrane NA 1 PE1 -NX_Q9HBD1 131669 1191 6.43 9 P-body;Cytosol NA 0 PE1 -NX_Q9HBE1 74060 687 8.71 22 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9HBE4 17923 155 9.42 4 Secreted Immunodeficiency, common variable, 11 0 PE1 -NX_Q9HBE5 59130 538 4.57 16 Cytosol;Membrane;Cell membrane IL21R immunodeficiency 1 PE1 -NX_Q9HBF4 87176 777 7.29 14 Golgi stack;Endoplasmic reticulum NA 0 PE1 -NX_Q9HBF5 9024 79 8.52 15 NA NA 0 PE2 -NX_Q9HBG4 96386 840 5.75 7 Cytosol;Apical cell membrane Renal tubular acidosis, distal, autosomal recessive 8 PE1 -NX_Q9HBG6 141825 1241 6.08 3 Cytosol;Nucleoplasm;Cytoplasm;Cilium;Cilium basal body Cranioectodermal dysplasia 1 0 PE1 -NX_Q9HBG7 72139 655 5.36 1 Membrane;Cell membrane NA 1 PE1 -NX_Q9HBH0 23625 211 8.9 12 Golgi apparatus;Nucleus;Cell membrane;Cytoskeleton NA 0 PE1 -NX_Q9HBH1 27013 243 9.48 16 Mitochondrion;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q9HBH5 36865 336 9.02 2 Endoplasmic reticulum;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9HBH7 14860 125 6.31 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q9HBH9 51875 465 5.8 19 Cytoplasm;Nucleus;Nucleolus;Nucleus;PML body NA 0 PE1 -NX_Q9HBI0 37485 331 5.32 22 Cell membrane;Cytoskeleton;Focal adhesion NA 0 PE1 -NX_Q9HBI1 41714 364 6.26 22 Focal adhesion;Cytosol;Cell membrane;Cytoskeleton;Z line;Sarcomere;Lamellipodium NA 0 PE1 -NX_Q9HBI5 15007 128 5.67 3 Cytosol;Cell membrane NA 0 PE1 -NX_Q9HBI6 60146 524 6.26 19 Microsome membrane NA 1 PE1 -NX_Q9HBJ0 23616 212 6.23 X Cell membrane;Nucleus;Secreted NA 0 PE2 -NX_Q9HBJ7 104156 922 5.62 19 NA NA 0 PE2 -NX_Q9HBJ8 25235 222 5.43 X Membrane;Cytoplasmic vesicle;Endoplasmic reticulum NA 1 PE1 -NX_Q9HBK9 41748 375 5.83 10 Cytoplasm NA 0 PE1 -NX_Q9HBL0 185701 1735 7.55 2 Focal adhesion;Cytoskeleton;Focal adhesion;Cell surface NA 0 PE1 -NX_Q9HBL6 38171 345 6.26 3 Membrane NA 1 PE2 -NX_Q9HBL7 17201 147 9.58 9 Mitochondrion;Cell membrane NA 2 PE1 -NX_Q9HBL8 33344 299 7.06 16 Nucleus;Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 -NX_Q9HBM0 88665 779 5.11 12 Cytosol;Cell membrane;Adherens junction;Nucleus;Acrosome;Nucleoplasm NA 2 PE1 -NX_Q9HBM1 26153 224 7.7 2 Cytosol;Nucleus;Kinetochore NA 0 PE1 -NX_Q9HBM6 27622 251 9.58 X Nucleus NA 0 PE1 -NX_Q9HBQ8 15482 144 5.27 12 NA NA 0 PE5 -NX_Q9HBR0 119762 1119 5.51 17 Golgi apparatus;Membrane NA 10 PE1 -NX_Q9HBT6 88993 801 4.54 18 Cell membrane NA 1 PE1 -NX_Q9HBT7 87565 754 8.8 17 Golgi apparatus;Nucleus NA 0 PE1 -NX_Q9HBT8 60175 521 8.64 17 Nucleolus;Nucleus NA 0 PE1 -NX_Q9HBU1 27298 254 9.72 9 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9HBU6 50968 452 6.09 12 Cell membrane;Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9HBU9 40448 364 5.23 3 Membrane;Sarcolemma NA 2 PE1 -NX_Q9HBV1 33870 291 8.12 6 Membrane;Nucleolus;Cytosol NA 3 PE2 -NX_Q9HBV2 32143 294 4.57 6 Membrane NA 1 PE1 -NX_Q9HBW0 39084 351 9.48 19 Cell membrane;Cell surface NA 7 PE1 -NX_Q9HBW1 72717 653 6.58 7 Membrane;Golgi apparatus;Postsynaptic cell membrane NA 1 PE1 -NX_Q9HBW9 77811 690 7.81 1 Cell membrane NA 7 PE1 -NX_Q9HBX3 12922 110 8.84 7 NA NA 0 PE4 -NX_Q9HBX8 104298 967 5.43 1 Cell membrane;Nucleoplasm;Cell membrane NA 7 PE1 -NX_Q9HBX9 86975 757 8.39 4 Cell membrane NA 7 PE1 -NX_Q9HBY0 64935 568 8.28 6 Cytoplasmic vesicle;Membrane NA 6 PE1 -NX_Q9HBY8 47604 427 7.16 20 Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9HBZ2 78691 717 6.25 15 Nucleus;Nucleus;Mitochondrion Webb-Dattani syndrome 0 PE1 -NX_Q9HC07 34906 324 6.53 4 Golgi apparatus membrane;Cytoplasmic vesicle;trans-Golgi network membrane;Golgi apparatus;Late endosome membrane;Lysosome membrane;Early endosome membrane Congenital disorder of glycosylation 2K 6 PE1 -NX_Q9HC10 226753 1997 5.49 2 Basolateral cell membrane;Endoplasmic reticulum membrane;Synaptic vesicle membrane;Cell membrane Auditory neuropathy, autosomal recessive, 1;Deafness, autosomal recessive, 9 1 PE1 -NX_Q9HC16 46408 384 8.28 22 Nucleus;P-body;Cytoplasm NA 0 PE1 -NX_Q9HC21 35511 320 9.61 17 Mitochondrion inner membrane Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type;Microcephaly, Amish type 6 PE1 -NX_Q9HC23 14314 129 10.12 3 Secreted Hypogonadotropic hypogonadism 4 with or without anosmia 0 PE1 -NX_Q9HC24 26971 238 6.58 12 Golgi apparatus membrane NA 6 PE1 -NX_Q9HC29 115283 1040 6.3 16 Golgi apparatus;Cytosol;Cytoplasm;Membrane;Basolateral cell membrane Blau syndrome;Yao syndrome;Inflammatory bowel disease 1 0 PE1 -NX_Q9HC35 108916 981 5.96 2 Cytosol;Cytoskeleton;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q9HC36 47020 420 8.89 17 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9HC38 34793 313 5.4 17 Cytosol;Mitochondrion;Nucleus;Nucleolus NA 0 PE1 -NX_Q9HC44 52302 474 6.36 1 Nucleus;Focal adhesion;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9HC47 8406 74 5.3 18 Membrane NA 2 PE2 -NX_Q9HC52 43396 389 9.92 17 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9HC56 136064 1237 5.26 13 Nucleoplasm;Centrosome;Cell membrane NA 1 PE1 -NX_Q9HC57 23977 220 8.77 16 Secreted NA 0 PE1 -NX_Q9HC58 71992 644 5.19 20 Membrane NA 10 PE1 -NX_Q9HC62 67855 589 9.54 3 Cytosol;Cytoplasm;Nucleus membrane;Nuclear pore complex NA 0 PE1 -NX_Q9HC73 42013 371 5.11 X Cell membrane;Secreted NA 1 PE1 -NX_Q9HC77 153000 1338 6.23 13 Centrosome;Centrosome;Centriole;Cell membrane;Nucleoplasm Seckel syndrome 4;Microcephaly 6, primary, autosomal recessive 0 PE1 -NX_Q9HC78 81083 741 6.03 3 Nucleus;Nucleus;Nucleus;Nucleoplasm Primrose syndrome 0 PE1 -NX_Q9HC84 596340 5762 6.2 11 Secreted;Cytoplasmic vesicle Pulmonary fibrosis, idiopathic 0 PE1 -NX_Q9HC96 74952 672 7.97 2 Nucleoplasm;Cytosol Diabetes mellitus, non-insulin-dependent, 1 0 PE1 -NX_Q9HC97 34072 309 9.06 2 Cell membrane NA 7 PE1 -NX_Q9HC98 35714 313 8.26 9 Cytoplasm;Nucleus;Microtubule organizing center;Nucleus speckle;Spindle pole;Centrosome;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9HCB6 90973 807 5.85 11 Extracellular matrix NA 0 PE1 -NX_Q9HCC0 61333 563 7.58 5 Mitochondrion;Mitochondrion matrix 3-methylcrotonoyl-CoA carboxylase 2 deficiency 0 PE1 -NX_Q9HCC6 23523 221 11.11 1 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA 0 PE2 -NX_Q9HCC8 61729 539 8.77 X Cell membrane;Cytoplasm;Cytoskeleton NA 6 PE1 -NX_Q9HCC9 96490 887 4.99 4 Early endosome membrane;Cytosol;Cytosol;Cell membrane;Nucleus NA 0 PE1 -NX_Q9HCD5 65536 579 9.62 20 Nucleus;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9HCD6 219650 1990 8.31 17 Cytosol NA 0 PE1 -NX_Q9HCE0 292481 2579 5.99 18 Nucleus speckle Vici syndrome 0 PE1 -NX_Q9HCE1 113671 1003 9 1 Cytosol;P-body NA 0 PE1 -NX_Q9HCE3 141696 1301 8.92 18 Golgi apparatus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9HCE5 52150 456 5.89 4 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9HCE6 140409 1279 5.59 1 Cytoplasmic vesicle;Cytosol;Golgi apparatus;Cytoplasm NA 0 PE1 -NX_Q9HCE7 86114 757 6.56 7 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9HCE9 136034 1232 5.62 19 Nucleoplasm;Cell membrane;Nucleolus NA 8 PE1 -NX_Q9HCF6 197571 1732 6.74 9 Membrane NA 7 PE1 -NX_Q9HCG1 94112 818 9.44 19 Nucleus speckle;Nucleus;Cytosol NA 0 PE1 -NX_Q9HCG7 104649 927 5.61 9 Golgi apparatus;Endoplasmic reticulum membrane;Cytosol;Nucleoplasm;Golgi apparatus membrane Spastic paraplegia 46, autosomal recessive 0 PE1 -NX_Q9HCG8 105466 908 6.6 2 Nucleus speckle;Cytosol;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9HCH0 139013 1330 8.45 12 Centrosome;Golgi apparatus NA 0 PE1 -NX_Q9HCH3 65734 593 5.65 6 Cell projection;Perikaryon;Cytosol NA 0 PE1 -NX_Q9HCH5 104930 934 7.96 11 Cell membrane;Nucleus;Cell membrane;Golgi apparatus;Cytoplasm NA 0 PE1 -NX_Q9HCI5 103254 957 5.24 X Cytoskeleton;Perinuclear region;Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q9HCI6 89673 787 7.78 6 Nucleus membrane;Nucleus NA 0 PE1 -NX_Q9HCI7 62541 577 8.11 3 Cytosol NA 0 PE1 -NX_Q9HCJ0 175964 1690 6.47 17 Nucleus NA 0 PE1 -NX_Q9HCJ1 54241 492 8 5 Cytosol;Membrane Craniometaphyseal dysplasia, autosomal dominant;Chondrocalcinosis 2 8 PE1 -NX_Q9HCJ2 71950 640 6.7 11 Cytosol;Postsynaptic cell membrane NA 1 PE1 -NX_Q9HCJ3 74339 691 7.12 1 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9HCJ5 133470 1215 7.01 5 Cytosol Acromelic frontonasal dysostosis 0 PE1 -NX_Q9HCJ6 45899 419 4.98 16 Cytosol NA 0 PE1 -NX_Q9HCK0 49953 441 6.62 9 Nucleus NA 0 PE1 -NX_Q9HCK1 265618 2354 5.79 2 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9HCK4 151200 1378 5.95 3 Membrane;Microtubule organizing center;Nucleus Vesicoureteral reflux 2 1 PE1 -NX_Q9HCK5 97097 861 9.21 1 P-body;Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9HCK8 290519 2581 6.04 14 Nucleoplasm;Nucleus Autism 18 0 PE1 -NX_Q9HCL0 126149 1135 4.99 4 Cell membrane;Golgi apparatus;Cytosol NA 1 PE1 -NX_Q9HCL2 93795 828 7.81 10 Mitochondrion;Mitochondrion;Mitochondrion outer membrane NA 2 PE1 -NX_Q9HCL3 63463 533 8.92 19 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9HCM1 194857 1747 8.95 12 Cytosol;Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q9HCM2 212455 1894 6.42 7 Cell membrane NA 1 PE1 -NX_Q9HCM3 210755 1950 5.75 7 Membrane;Nucleus membrane;Cytoskeleton NA 2 PE1 -NX_Q9HCM4 81856 733 6.15 2 Cytoplasm;Cell membrane;Adherens junction NA 0 PE1 -NX_Q9HCM7 110907 1045 9.7 12 Cytosol;Cell membrane;Nucleus NA 0 PE1 -NX_Q9HCM9 59690 518 7.8 6 Cytosol;Cytosol;Mitochondrion NA 0 PE1 -NX_Q9HCN2 12935 124 10.26 11 Mitochondrion NA 0 PE2 -NX_Q9HCN3 84761 771 7.67 16 Cytoskeleton;Nucleoplasm;Cell membrane;Lysosome membrane NA 7 PE1 -NX_Q9HCN4 41740 374 4.8 2 Nucleoplasm;Mitochondrion;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9HCN6 36866 339 9.35 19 Cell membrane;Nucleoplasm Bleeding disorder, platelet-type 11 1 PE1 -NX_Q9HCN8 23598 221 6.52 22 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q9HCP0 48511 422 9.13 15 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9HCP6 56703 504 6.67 3 Endoplasmic reticulum membrane NA 8 PE1 -NX_Q9HCQ5 68359 603 8.73 12 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 -NX_Q9HCQ7 22309 196 9.26 7 Secreted NA 0 PE1 -NX_Q9HCR9 104752 933 6.15 2 Cytosol Primary pigmented nodular adrenocortical disease 2 0 PE1 -NX_Q9HCS2 60270 524 7.02 19 Endoplasmic reticulum membrane;Microsome membrane NA 2 PE1 -NX_Q9HCS4 62631 588 9 2 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9HCS5 79059 686 9.44 5 Cell membrane;Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q9HCS7 100010 855 5.87 19 Cytoplasmic vesicle;Nucleus;Nucleus NA 0 PE1 -NX_Q9HCT0 19663 170 11.81 19 Secreted NA 0 PE1 -NX_Q9HCU0 80859 757 5.18 11 Membrane;Cell membrane;Nucleoplasm NA 1 PE1 -NX_Q9HCU4 317453 2923 5.14 1 Cytosol;Cell membrane NA 7 PE1 -NX_Q9HCU5 45468 417 8.02 2 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus NA 1 PE1 -NX_Q9HCU8 12433 107 6.29 11 Nucleus;Cytosol;Mitochondrion;Nucleolus;Nucleus NA 0 PE1 -NX_Q9HCU9 28461 246 4.69 11 Endoplasmic reticulum;Centrosome;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9HCX3 75047 659 8.73 19 Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9HCX4 99562 862 8.02 5 Nucleus envelope;Cell membrane;Cytoskeleton;Focal adhesion NA 6 PE1 -NX_Q9HCY8 11662 104 5.16 1 Nucleus;Cytoplasm;Cell junction;Cytosol NA 0 PE1 -NX_Q9HCZ1 79649 680 9.33 20 Nucleus;Nucleus;Cytosol NA 0 PE1 -NX_Q9HD15 25673 236 6.54 5 Cytosol;Cytoplasm;Nucleus;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q9HD20 132955 1204 8.46 19 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 10 PE1 -NX_Q9HD23 50318 443 6.44 6 Mitochondrion inner membrane NA 2 PE1 -NX_Q9HD26 50520 462 5.59 6 Golgi apparatus membrane;Golgi apparatus;trans-Golgi network membrane;Cytoplasm;Synapse;Cytosol;Postsynaptic density;Dendrite NA 0 PE1 -NX_Q9HD33 29450 250 10.38 3 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9HD34 10758 91 10.73 6 Nucleus;Mitochondrion;Nucleus Combined oxidative phosphorylation deficiency 19 0 PE1 -NX_Q9HD36 21973 194 9.63 15 Mitochondrion;Nucleus membrane NA 1 PE1 -NX_Q9HD40 55726 501 8.31 4 Cytoplasmic vesicle;Cytoplasm Pontocerebellar hypoplasia 2D 0 PE1 -NX_Q9HD42 21703 196 7.77 16 Endosome membrane;Nucleus matrix;Cytoplasm Pontocerebellar hypoplasia 8 0 PE1 -NX_Q9HD43 122352 1115 5.21 19 Apical cell membrane;Microvillus membrane;Cytoplasm;Mitochondrion NA 1 PE1 -NX_Q9HD45 67888 589 6.83 10 Membrane;Cytoplasmic vesicle;Golgi apparatus NA 9 PE1 -NX_Q9HD47 20448 186 4.8 17 Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9HD64 9078 81 9.65 X Nucleus speckle NA 0 PE1 -NX_Q9HD67 237347 2058 5.85 5 Cytosol;Lamellipodium;Ruffle;Nucleolus;Cytoskeleton;Filopodium tip;Cell cortex;Cell membrane;Cytosol;Filopodium membrane NA 0 PE1 -NX_Q9HD87 12368 102 8.35 6 Membrane NA 1 PE5 -NX_Q9HD89 11419 108 6.52 19 Secreted NA 0 PE1 -NX_Q9HD90 37041 331 6.37 12 Nucleus NA 0 PE1 -NX_Q9HDB5 69305 637 6.75 14 Membrane NA 1 PE1 -NX_Q9HDB8 27904 245 5.6 3 Virion NA 0 PE2 -NX_Q9HDB9 73588 667 9.26 3 Cell membrane NA 0 PE1 -NX_Q9HDC5 71686 661 9.37 8 Cell membrane;Endoplasmic reticulum membrane;Nucleus;Sarcoplasmic reticulum membrane NA 1 PE1 -NX_Q9HDC9 46480 416 5.82 20 Membrane;Cell membrane NA 1 PE1 -NX_Q9HDD0 18750 168 5.37 3 Membrane;Focal adhesion;Cytosol NA 1 PE2 -NX_Q9N2J8 60911 555 8.88 2 Cell membrane;Virion NA 1 PE2 -NX_Q9N2K0 64318 584 8.61 2 Virion;Cell membrane NA 1 PE2 -NX_Q9NNW5 121725 1121 6.41 3 Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q9NNW7 56507 524 7.24 22 Nucleus;Cytoplasm;Mitochondrion;Cytosol;Mitochondrion NA 0 PE1 -NX_Q9NNX1 44264 390 5.68 1 Cytoplasm;Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q9NNX6 45775 404 5.43 19 Cell membrane;Secreted NA 1 PE1 -NX_Q9NNX9 20020 186 4.51 X NA NA 0 PE2 -NX_Q9NNZ3 27593 241 10.56 11 Membrane NA 1 PE1 -NX_Q9NNZ6 11232 103 4.56 16 Nucleus;Chromosome NA 0 PE1 -NX_Q9NP08 36155 348 6.28 4 Nucleus Oculoauricular syndrome 0 PE1 -NX_Q9NP31 42934 389 6.96 1 Cytoplasm NA 0 PE1 -NX_Q9NP50 24852 221 9.51 12 Nucleus;Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NP55 26713 256 5.42 20 Secreted NA 0 PE1 -NX_Q9NP56 51835 450 6.54 6 Nucleoplasm NA 0 PE1 -NX_Q9NP58 93886 842 8.75 2 Cytosol;Golgi apparatus;Cell membrane;Mitochondrion;Cell membrane;Mitochondrion outer membrane;Golgi apparatus membrane;Endosome membrane;Nucleoplasm;Endoplasmic reticulum membrane Pseudohyperkalemia, familial, 2, due to red cell leak;Microphthalmia, isolated, with coloboma, 7;Dyschromatosis universalis hereditaria 3 10 PE1 -NX_Q9NP59 62542 571 6.08 2 Cell membrane;Cytosol;Cell membrane;Nucleoplasm;Cell membrane Hemochromatosis 4 10 PE1 -NX_Q9NP60 78670 686 6.05 X Membrane NA 1 PE2 -NX_Q9NP61 56928 516 7.04 22 Cytosol;Cytoplasm;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 -NX_Q9NP62 49268 436 6.57 6 Cytoplasmic vesicle;Nucleus NA 0 PE2 -NX_Q9NP64 27570 241 9.72 1 Nucleus speckle;Nucleolus NA 0 PE1 -NX_Q9NP66 40144 347 6.08 15 Nucleus;Nucleus NA 0 PE1 -NX_Q9NP70 48283 447 4.79 4 Extracellular matrix Amelogenesis imperfecta 1F 0 PE1 -NX_Q9NP71 93073 852 8.7 7 Nucleus;Nucleus NA 0 PE1 -NX_Q9NP72 22977 206 5.11 10 Nucleus;Cytoplasm;Cell membrane Warburg micro syndrome 3 0 PE1 -NX_Q9NP73 126056 1137 6.28 X Endoplasmic reticulum Epileptic encephalopathy, early infantile, 36 0 PE1 -NX_Q9NP74 62758 551 5.31 1 Cytoskeleton;Cytoplasm;Dendrite;Dendritic spine;Focal adhesion;Cell membrane NA 0 PE1 -NX_Q9NP77 22574 194 5.16 1 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9NP78 84475 766 8 12 Cytoplasmic vesicle;Lysosome membrane NA 8 PE1 -NX_Q9NP79 33879 307 5.87 6 Nucleoplasm;Cytosol;Cytoplasmic vesicle;Endosome membrane;Cytoplasm NA 0 PE1 -NX_Q9NP80 88477 782 9.31 7 Cytoskeleton;Golgi apparatus;Nucleoplasm;Endoplasmic reticulum membrane;Cytosol;Perinuclear region;Golgi apparatus membrane Mitochondrial myopathy with lactic acidosis 1 PE1 -NX_Q9NP81 58283 518 8.35 19 Mitochondrion matrix Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 0 PE1 -NX_Q9NP84 13911 129 9.37 16 Cell membrane;Cytosol;Membrane NA 1 PE1 -NX_Q9NP85 42201 383 8.95 1 Cell membrane;Endoplasmic reticulum Nephrotic syndrome 2 0 PE1 -NX_Q9NP86 19826 173 4.45 19 Cytoplasm NA 0 PE1 -NX_Q9NP87 54816 494 8.74 7 Nucleus;Nucleus NA 0 PE1 -NX_Q9NP90 22719 201 4.74 X Phagosome;Cell membrane;Phagosome membrane NA 0 PE1 -NX_Q9NP91 65914 592 6.25 3 Apical cell membrane Hyperglycinuria;Iminoglycinuria 12 PE1 -NX_Q9NP92 50365 439 8.21 5 Mitochondrion NA 0 PE1 -NX_Q9NP94 32742 309 5.85 14 Cell membrane NA 8 PE1 -NX_Q9NP95 23499 211 8.89 8 Secreted Renal hypodysplasia/aplasia 2 0 PE1 -NX_Q9NP97 10922 96 6.58 20 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q9NP98 31745 299 8.86 10 Nucleus;Pseudopodium NA 0 PE1 -NX_Q9NP99 26387 234 9 6 Secreted;Cell membrane NA 1 PE1 -NX_Q9NPA0 26471 242 9.24 15 Nucleoplasm;Membrane NA 1 PE1 -NX_Q9NPA1 31604 279 6.88 3 Nucleus;Mitochondrion;Membrane NA 2 PE1 -NX_Q9NPA2 62554 562 8.76 16 Cell membrane;Extracellular matrix NA 0 PE1 -NX_Q9NPA3 20202 183 5.25 X Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9NPA5 74644 681 8.77 20 Nucleus NA 0 PE1 -NX_Q9NPA8 11529 101 9.39 8 Nucleus;Nucleoplasm;Nucleoplasm;Nuclear pore complex;Mitochondrion NA 0 PE1 -NX_Q9NPB0 20163 183 8.95 6 Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA 1 PE1 -NX_Q9NPB1 25862 228 8.21 17 Mitochondrion NA 0 PE1 -NX_Q9NPB3 24482 220 4.6 11 Perinuclear region;Cell membrane;Golgi apparatus Deafness, autosomal recessive, 93 0 PE1 -NX_Q9NPB6 37388 346 9.29 16 Cell junction;Cytosol;Cytoplasm;Cell membrane;Ruffle;Tight junction;Centrosome;Centriolar satellite;Cytoskeleton NA 0 PE1 -NX_Q9NPB8 76035 672 5.34 20 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9NPB9 39914 350 8.8 3 Cytosol;Early endosome;Recycling endosome;Cell membrane NA 7 PE1 -NX_Q9NPC1 41525 389 11 14 Cell membrane;Nucleoplasm;Cell membrane NA 7 PE1 -NX_Q9NPC2 42264 374 8.85 8 Cell membrane Birk-Barel mental retardation dysmorphism syndrome 4 PE1 -NX_Q9NPC3 31544 277 8.59 14 Nucleus;Chromosome NA 0 PE1 -NX_Q9NPC4 40499 353 9.16 22 Golgi apparatus membrane;Mitochondrion NA 1 PE1 -NX_Q9NPC6 29898 264 7.86 4 Z line;Nucleus;Cytosol Cardiomyopathy, familial hypertrophic 16 0 PE1 -NX_Q9NPC7 68682 610 8.56 3 Nucleus;Nucleus NA 0 PE1 -NX_Q9NPC8 32286 291 9.14 2 Nucleus;Nucleoplasm;Nucleus membrane NA 0 PE1 -NX_Q9NPD3 26383 245 6.07 8 Cytosol;Cytoskeleton;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NPD5 77403 702 9.01 12 Cell membrane;Basolateral cell membrane Hyperbilirubinemia, Rotor type 12 PE1 -NX_Q9NPD7 15333 142 6.54 6 Cell membrane;Synapse NA 0 PE1 -NX_Q9NPD8 22521 197 7.78 1 Nucleolus;Nucleus;Nucleus Fanconi anemia complementation group T 0 PE1 -NX_Q9NPE2 32408 291 9.16 15 Nucleus;Cytoplasm;Nucleus;Secreted NA 0 PE1 -NX_Q9NPE3 7706 64 10.01 15 Nucleolus;Cajal body;Nucleus Dyskeratosis congenita, autosomal recessive, 1 0 PE1 -NX_Q9NPE6 48165 437 6.65 20 Membrane;Nucleus inner membrane;Cytoskeleton;Flagellum axoneme;Nucleus envelope NA 2 PE1 -NX_Q9NPF0 28991 282 4.61 19 Endoplasmic reticulum;Cell membrane;Cytosol Methylmalonic aciduria, transient, due to transcobalamin receptor defect 1 PE1 -NX_Q9NPF2 41555 352 9.04 12 Golgi apparatus;Golgi apparatus membrane NA 1 PE1 -NX_Q9NPF4 36427 335 5.94 14 Nucleus;Cell membrane;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9NPF5 52993 467 9.51 1 Nucleus;Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9NPF7 20730 189 6.02 12 Secreted;Cytosol NA 0 PE1 -NX_Q9NPF8 44349 381 9.44 17 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9NPG1 76263 666 7.94 8 Membrane;Cell membrane;Nucleoplasm;Cytoplasmic vesicle;Cell surface;Apical cell membrane NA 7 PE1 -NX_Q9NPG2 16933 151 5.42 14 Mitochondrion;Perikaryon;Cytoplasm NA 0 PE1 -NX_Q9NPG3 121520 1134 9.37 16 Nucleoplasm;PML body;Tight junction;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NPG4 128995 1184 5.13 5 Cell membrane;Cell junction NA 1 PE1 -NX_Q9NPG8 39787 344 7.01 7 Endoplasmic reticulum membrane;Nucleus NA 5 PE1 -NX_Q9NPH0 48854 428 6.04 1 Mitochondrion NA 0 PE1 -NX_Q9NPH2 61068 558 5.52 19 Cytoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9NPH3 65418 570 8.37 3 Cytosol;Cytoplasmic vesicle;Cell membrane;Secreted NA 1 PE1 -NX_Q9NPH5 66932 578 8.96 11 Nucleus;Endoplasmic reticulum membrane;Cell membrane;Focal adhesion;Nucleus;Nucleolus NA 6 PE1 -NX_Q9NPH6 19457 170 8.91 9 Secreted NA 0 PE1 -NX_Q9NPH9 19843 171 10 12 Secreted NA 0 PE1 -NX_Q9NPI0 19262 162 9.67 11 Vacuole membrane;Cilium;Cytoskeleton Joubert syndrome 16 4 PE1 -NX_Q9NPI1 74139 651 6 16 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9NPI5 26046 230 5.77 19 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9NPI6 63309 582 5.84 3 Cytosol;Nucleus;P-body NA 0 PE1 -NX_Q9NPI7 30980 259 9.35 2 Cytosol;Nucleolus NA 0 PE1 -NX_Q9NPI8 42254 374 9.11 11 Nucleus Fanconi anemia complementation group F 0 PE1 -NX_Q9NPI9 47949 418 7.98 17 Cytoplasmic vesicle;Membrane;Basolateral cell membrane NA 2 PE1 -NX_Q9NPJ1 62342 570 6.67 20 Nucleus;Cytoplasm;Centrosome;Centrosome;Cytosol McKusick-Kaufman syndrome;Bardet-Biedl syndrome 6 0 PE1 -NX_Q9NPJ3 14960 140 9.23 6 Cell junction;Cytosol;Spindle;Nucleus;Mitochondrion NA 0 PE1 -NX_Q9NPJ4 15591 139 10.4 1 Nucleoplasm;Nucleus;P-body;Golgi apparatus NA 0 PE1 -NX_Q9NPJ6 29745 270 5.02 13 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NPJ8 16228 142 5.24 X Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NPL8 32178 285 8.65 3 Mitochondrion;Nucleus;Mitochondrion membrane;Mitochondrion NA 4 PE1 -NX_Q9NPP4 116159 1024 6.32 2 Cytoplasm;Cytosol Autoinflammation with infantile enterocolitis;Familial cold autoinflammatory syndrome 4 0 PE1 -NX_Q9NPQ8 59710 531 5.2 11 Cytoplasm;Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q9NPR2 92193 832 6.51 15 Membrane NA 1 PE1 -NX_Q9NPR9 60633 543 8.88 19 Membrane;Cytoplasmic vesicle;Golgi apparatus NA 7 PE1 -NX_Q9NPU4 8830 83 3.8 14 Membrane NA 1 PE3 -NX_Q9NPY3 68560 652 5.27 20 Cell membrane;Golgi apparatus;Cell membrane;Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q9NPZ5 36919 323 10.63 6 Golgi apparatus membrane NA 1 PE1 -NX_Q9NQ03 32584 307 9.39 20 Nucleoplasm;Nucleus NA 0 PE2 -NX_Q9NQ11 128794 1180 8.47 1 Membrane;Lysosome;Lysosome membrane Spastic paraplegia 78, autosomal recessive;Kufor-Rakeb syndrome 12 PE1 -NX_Q9NQ25 37421 335 6.02 1 Endoplasmic reticulum;Membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q9NQ29 43728 371 9.95 16 Mitochondrion;Nucleus NA 0 PE1 -NX_Q9NQ30 20095 184 7.36 5 Secreted NA 0 PE1 -NX_Q9NQ31 23114 210 8.31 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NQ32 51609 467 8.45 11 NA NA 0 PE2 -NX_Q9NQ33 20797 180 8.71 11 Nucleus NA 0 PE2 -NX_Q9NQ34 22531 198 8.35 11 Lysosome membrane;Early endosome membrane NA 1 PE1 -NX_Q9NQ35 26975 241 8.82 11 Cytoplasm;Cytosol NA 0 PE1 -NX_Q9NQ36 109966 999 6.23 11 Secreted;Cell surface NA 0 PE1 -NX_Q9NQ38 120714 1064 8.45 5 Secreted;Cytoplasmic vesicle Netherton syndrome 0 PE1 -NX_Q9NQ39 20120 176 10.13 20 NA NA 0 PE5 -NX_Q9NQ40 50805 469 5.46 20 Apical cell membrane;Cell membrane Brown-Vialetto-Van Laere syndrome 1;Fazio-Londe disease 11 PE1 -NX_Q9NQ48 34592 299 5.3 3 Cytosol;Cytoplasm Bardet-Biedl syndrome 17 0 PE1 -NX_Q9NQ50 24490 206 9.62 22 Nucleolus;Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9NQ55 53194 473 10.13 19 Nucleolus NA 0 PE1 -NX_Q9NQ60 32840 294 4.89 9 Acrosome membrane;Acrosome outer membrane;Acrosome inner membrane NA 1 PE1 -NX_Q9NQ66 138567 1216 5.9 20 Nucleus membrane;Cytoplasm;Cell membrane Epileptic encephalopathy, early infantile, 12 0 PE1 -NX_Q9NQ69 43976 397 9 1 Nucleus;Nucleus NA 0 PE1 -NX_Q9NQ75 87144 786 6.66 20 Cytoskeleton;Focal adhesion NA 0 PE1 -NX_Q9NQ76 58419 525 8.62 4 Extracellular matrix NA 0 PE1 -NX_Q9NQ79 71421 661 4.95 10 Extracellular matrix NA 0 PE1 -NX_Q9NQ84 48193 441 8.72 17 Cytoplasmic vesicle membrane;Cell membrane;Nucleus;Cytosol;Microtubule organizing center NA 7 PE1 -NX_Q9NQ86 83013 728 5.77 5 Acrosome;Cytoskeleton;Cytoplasm;Cytosol;Nucleus Anencephaly 0 PE1 -NX_Q9NQ87 35087 328 10.69 1 Nucleus;Mitochondrion;Cytosol NA 0 PE1 -NX_Q9NQ88 30063 270 7.6 12 Nucleus;Mitochondrion;Cytosol;Cytoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NQ89 63801 552 5.94 12 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NQ90 113969 1003 6.12 12 Nucleoplasm;Cell membrane;Cell membrane NA 8 PE1 -NX_Q9NQ92 20066 184 4.06 17 Cytosol;Nucleus;Nucleus;Cell membrane NA 0 PE1 -NX_Q9NQ94 65202 594 8.6 10 Nucleus;Cytoplasm;Endoplasmic reticulum;Nucleoplasm NA 0 PE1 -NX_Q9NQA3 47990 447 5.48 X Recycling endosome membrane;Early endosome membrane NA 0 PE1 -NX_Q9NQA5 82551 729 6.01 7 Apical cell membrane NA 6 PE1 -NX_Q9NQB0 67919 619 8.73 10 PML body;Nucleus;Nucleoplasm Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_Q9NQC1 87466 790 5.15 5 Nucleoplasm NA 0 PE1 -NX_Q9NQC3 129931 1192 4.43 2 Nucleus membrane;Endoplasmic reticulum;Cell membrane;Endoplasmic reticulum;Endoplasmic reticulum membrane NA 2 PE1 -NX_Q9NQC7 107316 956 5.42 16 Cytoplasm;Perinuclear region;Cytoskeleton;Cell membrane;Centrosome;Spindle;Cilium basal body;Microtubule organizing center;Nucleoplasm Brooke-Spiegler syndrome;Multiple familial trichoepithelioma 1;Cylindromatosis, familial 0 PE1 -NX_Q9NQC8 34286 304 4.37 11 Cytoplasm;Cytoskeleton;Cilium;Cilium basal body NA 0 PE1 -NX_Q9NQE7 55049 514 8.28 6 Cytoplasmic vesicle NA 0 PE2 -NX_Q9NQE9 20361 182 6.12 6 Cytoplasm;Nucleolus;Cytosol;Mitochondrion;Nucleus NA 0 PE1 -NX_Q9NQF3 22471 203 6.64 22 NA NA 0 PE2 -NX_Q9NQG1 9467 85 9.21 20 Membrane;Mitochondrion;Nucleus NA 1 PE1 -NX_Q9NQG5 36900 326 5.73 20 Centrosome;Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NQG6 51293 463 7.55 22 Mitochondrion;Mitochondrion;Cytoskeleton;Mitochondrion outer membrane NA 1 PE1 -NX_Q9NQG7 76919 708 5.26 22 Centrosome Hermansky-Pudlak syndrome 4 0 PE1 -NX_Q9NQH7 57034 507 6.37 22 Mitochondrion Nephronophthisis-like nephropathy 1 0 PE1 -NX_Q9NQI0 79308 724 5.62 5 Cytoplasm;Perinuclear region NA 0 PE1 -NX_Q9NQL2 45588 400 4.76 6 Centrosome;Lysosome;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NQL9 51199 472 7 9 Nucleus NA 0 PE1 -NX_Q9NQM4 24069 214 3.99 X Cytoplasm Ciliary dyskinesia, primary, 36, X-linked 0 PE1 -NX_Q9NQN1 35172 319 8.37 9 Cell membrane NA 7 PE2 -NX_Q9NQP4 15314 134 4.42 20 Nucleus;Cytoplasm;Mitochondrion NA 0 PE1 -NX_Q9NQQ7 40432 365 8.31 20 Nucleoplasm;Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment membrane;cis-Golgi network membrane;Membrane NA 8 PE1 -NX_Q9NQR1 42890 393 9.69 12 Nucleus;Chromosome;Nucleus NA 0 PE1 -NX_Q9NQR4 30608 276 6.83 3 Cytoplasm;Cytosol;Centrosome NA 0 PE1 -NX_Q9NQR7 79739 707 10.74 14 NA NA 0 PE1 -NX_Q9NQR9 40580 355 8.64 2 Endoplasmic reticulum membrane NA 9 PE1 -NX_Q9NQS1 38506 362 4.9 15 Endomembrane system;Centrosome;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9NQS3 61002 549 5.79 3 Microtubule organizing center;Cell membrane;Postsynaptic cell membrane NA 1 PE1 -NX_Q9NQS5 43705 396 9.63 12 Cell membrane NA 7 PE1 -NX_Q9NQS7 105429 918 9.46 11 Nucleus;Nucleus;Centromere;Spindle;Midbody;Kinetochore;Midbody;Nucleus NA 0 PE1 -NX_Q9NQT4 25249 235 7.54 19 Nucleolus;Cytoplasm;Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q9NQT5 29572 275 8.39 9 Nucleus;Cytoplasm;Nucleoplasm;Nucleolus Pontocerebellar hypoplasia 1B 0 PE1 -NX_Q9NQT6 56624 498 7.83 7 Cytoskeleton NA 0 PE1 -NX_Q9NQT8 202789 1826 5.64 8 Cytoskeleton;Axon NA 0 PE1 -NX_Q9NQU5 74869 681 9.57 15 Cytoplasm;Nucleus;Nucleus;Cell junction;Nucleolus NA 0 PE1 -NX_Q9NQV5 57863 511 5.85 11 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NQV6 130136 1147 6.27 11 Nucleolus;Nucleus;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9NQV7 103376 894 9.36 5 Nucleus;Chromosome NA 0 PE1 -NX_Q9NQV8 71663 689 8.05 4 Nucleus;Nucleus Epilepsy, progressive myoclonic 10 0 PE1 -NX_Q9NQW1 128697 1179 8.62 10 Nucleus;Nucleolus;Cytosol;Cytoplasm;COPII-coated vesicle membrane;Endoplasmic reticulum membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q9NQW5 55777 492 7.99 16 Nucleus speckle;Nucleus;Chromosome NA 0 PE1 -NX_Q9NQW6 124199 1124 8.38 7 Cytoskeleton;Nucleus;Nucleoplasm;Nucleus;Cytoskeleton;Bleb;Cell cortex Focal segmental glomerulosclerosis 8 0 PE1 -NX_Q9NQW7 69918 623 5.42 10 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9NQW8 92167 809 8.06 8 Membrane Achromatopsia 3;Stargardt disease 1 6 PE1 -NX_Q9NQX0 64452 595 7.93 5 Nucleus;Nucleoplasm Patent ductus arteriosus 3 0 PE1 -NX_Q9NQX1 73090 630 9.08 4 Nucleus;Nucleus;Nucleolus;Nucleus Brittle cornea syndrome 2 0 PE1 -NX_Q9NQX3 79748 736 5.25 14 Cytosol;Synapse;Postsynaptic cell membrane;Cytoskeleton;Cell membrane;Dendrite Molybdenum cofactor deficiency, complementation group C 0 PE1 -NX_Q9NQX4 202810 1742 7.69 15 Cytosol;Nucleus NA 0 PE1 -NX_Q9NQX5 34516 325 6.55 9 Nucleus;Cytosol;Membrane NA 1 PE1 -NX_Q9NQX6 53739 463 9.16 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NQX7 30224 267 8.16 2 Cell membrane;Golgi apparatus;Lysosome membrane;Cell membrane NA 1 PE1 -NX_Q9NQY0 29665 253 6.94 8 Cytoskeleton NA 0 PE1 -NX_Q9NQZ2 54558 479 5.5 4 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q9NQZ3 82764 744 9.36 Y Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 0 PE1 -NX_Q9NQZ5 43113 370 9.03 2 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9NQZ6 26244 224 6.68 X Cytoplasmic vesicle;Cytoskeleton;Cytoplasm;Nucleus;Postsynaptic cell membrane Wieacker-Wolf syndrome 0 PE1 -NX_Q9NQZ7 68960 604 7.29 10 Nucleoplasm;Cytoplasmic vesicle membrane NA 2 PE1 -NX_Q9NQZ8 54498 489 9 19 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q9NR00 12337 106 10.14 8 Nucleolus;Nucleus speckle;Nucleus;Cytoplasm;Cytosol;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9NR09 530255 4857 5.67 2 Spindle pole;Golgi apparatus;Endosome;Midbody ring;Centrosome;Cytoplasmic vesicle;trans-Golgi network membrane NA 0 PE1 -NX_Q9NR11 54814 478 9.13 19 Nucleus;Cytoskeleton;Cytoplasmic vesicle NA 0 PE1 -NX_Q9NR12 49845 457 8.76 5 Focal adhesion;Cytoplasm;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q9NR16 159239 1453 5.44 12 Nucleoplasm;Cytosol;Centrosome;Secreted;Cell membrane NA 1 PE1 -NX_Q9NR19 78580 701 6.02 20 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q9NR20 59608 520 9.03 12 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NR21 38739 331 7.62 12 Nuclear pore complex NA 0 PE1 -NX_Q9NR22 45291 394 6.47 12 Cell membrane NA 0 PE1 -NX_Q9NR23 41387 364 8.2 12 Secreted;Cytoplasm Klippel-Feil syndrome 3, autosomal dominant;Microphthalmia, isolated, with coloboma, 6;Microphthalmia, isolated, 7 0 PE1 -NX_Q9NR28 27131 239 5.68 12 Mitochondrion;Mitochondrion Deafness, autosomal dominant, 64 0 PE1 -NX_Q9NR30 87344 783 9.32 10 Nucleus;Nucleolus;Nucleolus;Nucleolus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NR31 22367 198 6.22 10 Endoplasmic reticulum;Golgi apparatus NA 0 PE1 -NX_Q9NR33 12209 117 4.87 2 Nucleus;Nucleus;Cytosol NA 0 PE1 -NX_Q9NR34 70911 630 7.01 1 Cytoplasmic vesicle;Nucleus;Golgi apparatus membrane NA 1 PE1 -NX_Q9NR45 40308 359 6.29 9 Nucleoplasm Spondyloepimetaphyseal dysplasia, Genevieve type 0 PE1 -NX_Q9NR46 43974 395 5.72 9 Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_Q9NR48 332790 2969 9.46 1 Nucleoplasm;Nucleus;Chromosome;Golgi apparatus;Tight junction NA 0 PE1 -NX_Q9NR50 50240 452 6.08 1 Cytoplasm;Cytosol;Cytoplasmic vesicle Leukodystrophy with vanishing white matter 0 PE1 -NX_Q9NR55 14468 127 9.12 1 Nucleus NA 0 PE1 -NX_Q9NR56 41817 388 9.16 3 Cytosol;Cytoplasmic granule;Nucleus;Cytoplasm;Nucleoplasm Dystrophia myotonica 1;Corneal dystrophy, Fuchs endothelial, 3 0 PE1 -NX_Q9NR61 74605 685 6.51 15 Cell membrane Adams-Oliver syndrome 6 1 PE1 -NX_Q9NR63 57513 512 8.68 2 Cytosol;Endoplasmic reticulum membrane;Microsome membrane Radiohumeral fusions with other skeletal and craniofacial anomalies 0 PE1 -NX_Q9NR64 82680 748 5.95 13 Cytoskeleton NA 0 PE2 -NX_Q9NR71 85516 780 6.77 10 Cell membrane NA 1 PE1 -NX_Q9NR77 22253 195 10.58 12 Peroxisome membrane NA 4 PE1 -NX_Q9NR80 79067 690 6.55 2 Cytoplasm;Ruffle membrane NA 0 PE1 -NX_Q9NR81 59783 526 6.03 3 Nucleus;Cytoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9NR82 102179 932 9.55 6 Cytoplasmic vesicle;Cell membrane Mental retardation, autosomal dominant 46 6 PE1 -NX_Q9NR83 41267 387 8.57 20 Nucleus speckle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NR90 54989 486 8.9 Y Nucleus;Cytoplasm Spermatogenic failure Y-linked 2 0 PE1 -NX_Q9NR96 115860 1032 8.55 3 Endoplasmic reticulum membrane;Endosome;Phagosome;Lysosome NA 1 PE1 -NX_Q9NR97 119828 1041 6.2 X Membrane NA 1 PE1 -NX_Q9NR99 312150 2828 8.57 X Mitochondrion;Secreted Lung cancer 0 PE1 -NX_Q9NRA0 69217 654 6.47 19 Cytoplasmic vesicle;Lysosome membrane;Cytoplasm;Membrane NA 0 PE1 -NX_Q9NRA1 39029 345 5.77 4 Cytosol;Cytosol;Secreted;Nucleus;Cell membrane;Cell membrane;Cytoplasmic granule NA 0 PE1 -NX_Q9NRA2 54640 495 8.51 6 Cytosol;Lysosome membrane;Synaptic vesicle membrane;Cell membrane;Cell membrane Infantile sialic acid storage disorder;Salla disease 12 PE1 -NX_Q9NRA8 108201 985 8.45 22 Cytoplasm;Cytoplasmic vesicle;Nucleus;PML body;Nucleus speckle NA 0 PE1 -NX_Q9NRB3 48414 414 9.37 7 Golgi apparatus;Golgi apparatus membrane NA 1 PE1 -NX_Q9NRC1 67166 585 6.82 7 Cytosol;Membrane;Nucleoplasm NA 3 PE1 -NX_Q9NRC6 416750 3674 6.21 15 Cytoskeleton NA 0 PE1 -NX_Q9NRC8 44898 400 9.8 17 Cytoplasmic vesicle;Nucleolus;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q9NRC9 14332 128 4.87 20 Secreted NA 0 PE1 -NX_Q9NRD0 37068 319 7.62 4 Nucleoplasm;Cytosol NA 0 PE2 -NX_Q9NRD1 33933 293 5.73 1 Cytoplasm NA 0 PE1 -NX_Q9NRD5 46600 415 5.17 22 Mitochondrion;Cytoskeleton;Synaptosome;Postsynaptic density;Membrane;Membrane;Perinuclear region;Cytosol NA 0 PE1 -NX_Q9NRD8 175364 1548 8.02 15 Apical cell membrane;Cell junction Thyroid dyshormonogenesis 6 7 PE1 -NX_Q9NRD9 177235 1551 8.12 15 Apical cell membrane NA 7 PE1 -NX_Q9NRE1 29708 261 5.96 11 Extracellular matrix NA 0 PE2 -NX_Q9NRE2 115005 1034 8 20 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9NRF2 79366 756 5.26 16 Membrane;Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NRF8 65678 586 6.46 X Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9NRF9 16860 147 4.68 9 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NRG0 14711 131 4.99 8 Nucleus;Nucleus NA 0 PE1 -NX_Q9NRG1 25674 225 5.76 10 Golgi apparatus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9NRG4 49688 433 6.27 1 Cytosol;Nucleus;Cytosol;Cytoskeleton;Mitochondrion NA 0 PE1 -NX_Q9NRG7 34748 319 9.79 14 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9NRG9 59574 546 7.26 12 Cytosol;Nucleus membrane;Nuclear pore complex;Centrosome Achalasia-addisonianism-alacrima syndrome 0 PE1 -NX_Q9NRH1 25299 226 5.35 7 Cytosol NA 0 PE1 -NX_Q9NRH2 84276 765 6.62 3 Cytoplasmic vesicle;Nucleus;Cell junction;Cell membrane;Nucleus NA 0 PE1 -NX_Q9NRH3 51092 451 5.5 17 Centrosome;Microtubule organizing center NA 0 PE1 -NX_Q9NRI5 93611 854 5.96 1 Cytoplasm;Postsynaptic density;Cytoskeleton;Centrosome Schizophrenia 9 0 PE1 -NX_Q9NRI6 3432 33 3.92 17 Secreted NA 0 PE5 -NX_Q9NRI7 2179 21 7.74 17 NA NA 0 PE5 -NX_Q9NRJ1 11219 99 8.59 8 Cytoplasm;Microsome membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_Q9NRJ2 17657 163 10.93 9 NA NA 0 PE5 -NX_Q9NRJ3 14280 127 10.23 5 Secreted NA 0 PE1 -NX_Q9NRJ4 169000 1543 7.49 6 Cytoplasm NA 0 PE1 -NX_Q9NRJ5 71681 636 6.02 7 Nucleus NA 0 PE1 -NX_Q9NRJ7 84983 776 5 5 Cell membrane;Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q9NRK6 79148 738 9.87 1 Mitochondrion inner membrane NA 5 PE1 -NX_Q9NRL2 178702 1556 6.2 14 Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q9NRL3 80596 753 5.21 19 Dendritic spine;Cytosol;Cytoplasm;Membrane NA 0 PE1 -NX_Q9NRM0 58702 540 9.09 4 Basolateral cell membrane;Apical cell membrane Hypouricemia renal 2 12 PE1 -NX_Q9NRM1 128785 1142 6.36 4 Extracellular matrix Amelogenesis imperfecta 1C;Amelogenesis imperfecta 1B 0 PE1 -NX_Q9NRM2 52788 450 5.19 7 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9NRM6 55885 502 8.44 3 Cell membrane;Secreted NA 1 PE1 -NX_Q9NRM7 120136 1088 8.44 13 Spindle pole;Cytosol;Nucleus;Microtubule organizing center;Centrosome;Cytoplasm NA 0 PE1 -NX_Q9NRN5 46010 406 6.17 1 Secreted NA 0 PE1 -NX_Q9NRN7 35776 309 6.35 11 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q9NRN9 23719 209 6.23 2 Cytosol;Nucleolus NA 0 PE1 -NX_Q9NRP0 16829 149 9.23 4 Nucleoplasm;Membrane;Endoplasmic reticulum NA 3 PE1 -NX_Q9NRP2 9460 79 7.73 16 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9NRP4 14652 125 9.13 7 Mitochondrion matrix;Cytoskeleton;Mitochondrion NA 0 PE1 -NX_Q9NRP7 143995 1315 5.57 2 Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9NRQ2 37005 329 5.53 3 Nucleus;Nucleoplasm;Membrane NA 1 PE1 -NX_Q9NRQ5 6738 59 10.28 11 Membrane NA 1 PE1 -NX_Q9NRR1 15577 136 8.81 4 Secreted NA 0 PE1 -NX_Q9NRR2 33815 321 6.69 16 Membrane NA 1 PE2 -NX_Q9NRR3 9223 84 8.61 5 Cytoskeleton;Cell membrane;Phagocytic cup NA 0 PE1 -NX_Q9NRR4 159316 1374 8 5 Nucleoplasm;Cell membrane;Nucleus;Nucleolus NA 0 PE1 -NX_Q9NRR5 63853 601 5.14 1 Nucleus;Autophagosome;Perinuclear region;Endoplasmic reticulum;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NRR6 70205 644 9.16 9 Cilium axoneme;Golgi stack membrane;Cell membrane;Ruffle;Cytoplasm Joubert syndrome 1;Mental retardation, truncal obesity, retinal dystrophy, and micropenis 0 PE1 -NX_Q9NRR8 8925 79 10.03 1 Cell membrane;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9NRS4 48246 437 5.2 11 Membrane;Nucleoplasm;Cytosol NA 1 PE1 -NX_Q9NRS6 38291 342 5.09 11 Cytoplasm;Cytosol;Membrane;Cytoplasmic vesicle membrane;Nucleolus NA 0 PE1 -NX_Q9NRU3 104351 951 5.91 10 Cytosol;Cell membrane;Cell membrane NA 4 PE1 -NX_Q9NRV9 21097 189 5.71 12 Nucleus;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9NRW1 23462 208 5.41 3 Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment;Cytoplasmic vesicle NA 0 PE1 -NX_Q9NRW3 22826 190 7.52 22 Cytoskeleton;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NRW4 20910 184 8.28 6 Cytoplasmic vesicle;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9NRW7 65077 570 8.41 1 Golgi apparatus membrane;Cytoskeleton;Endosome membrane Neutropenia, severe congenital 5, autosomal recessive 0 PE1 -NX_Q9NRX1 27924 252 9.75 2 Nucleolus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NRX2 20050 175 10.12 11 Mitochondrion NA 0 PE1 -NX_Q9NRX3 9966 87 9.94 12 NA NA 0 PE1 -NX_Q9NRX4 13833 125 5.65 9 Nucleus;Cytoplasm;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NRX5 50495 453 5.59 6 Cytosol;Endoplasmic reticulum membrane NA 10 PE1 -NX_Q9NRX6 8294 74 9.67 1 Golgi apparatus membrane NA 1 PE1 -NX_Q9NRY2 11425 104 9.22 9 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NRY4 170514 1499 6.2 19 Nucleus;Nucleus;Cell membrane;Cilium basal body;Cytoplasm NA 0 PE1 -NX_Q9NRY5 55468 505 4.85 5 Cytoplasmic vesicle NA 0 PE1 -NX_Q9NRY6 31648 295 6.22 17 Mitochondrion;Mitochondrion membrane NA 1 PE1 -NX_Q9NRY7 33504 297 6.69 3 Membrane;Nucleus NA 1 PE1 -NX_Q9NRZ5 44021 378 8.95 6 Golgi apparatus;Cytoplasmic vesicle;Membrane;Nucleolus NA 4 PE1 -NX_Q9NRZ7 43381 376 8.96 21 Nucleus envelope;Endoplasmic reticulum membrane NA 2 PE1 -NX_Q9NRZ9 97074 838 8.07 10 Golgi apparatus;Nucleus;Cytoplasmic vesicle;Nucleus Immunodeficiency-centromeric instability-facial anomalies syndrome 4 0 PE1 -NX_Q9NS00 42203 363 6.17 7 Nucleus;Membrane;Cytosol NA 1 PE1 -NX_Q9NS15 139359 1303 5.71 11 Nucleoplasm;Secreted Dental anomalies and short stature 0 PE1 -NX_Q9NS18 18052 164 9.25 1 Mitochondrion;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NS23 39219 344 9.2 3 Cytoskeleton;Centrosome;Spindle;Spindle pole;Nucleus NA 0 PE1 -NX_Q9NS25 11840 103 5.92 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NS26 11038 97 5.05 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NS28 27582 235 7.73 1 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q9NS37 37134 354 5.12 11 Nucleus;Mitochondrion;Nucleus NA 0 PE1 -NX_Q9NS39 80621 739 10.19 10 Nucleus NA 0 PE1 -NX_Q9NS40 135000 1196 7.57 2 Membrane NA 6 PE1 -NX_Q9NS56 119198 1045 9.56 9 Nucleoplasm;Nucleus;PML body Retinitis pigmentosa 31 0 PE1 -NX_Q9NS61 30907 270 4.97 10 Nucleus;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9NS62 94584 852 8.33 13 Membrane;Cytosol;Secreted NA 1 PE1 -NX_Q9NS64 11774 109 4.79 2 Cytoplasm;Membrane NA 1 PE1 -NX_Q9NS66 41481 373 9.36 X Cytosol;Cell membrane;Cell membrane NA 7 PE2 -NX_Q9NS67 39818 375 9.3 3 Cell membrane;Cytosol;Nucleoplasm;Cytoskeleton;Cell membrane NA 7 PE2 -NX_Q9NS68 46015 423 5.28 13 Mitochondrion;Membrane;Nucleoplasm NA 1 PE1 -NX_Q9NS69 15522 142 4.27 22 Mitochondrion outer membrane;Mitochondrion NA 1 PE1 -NX_Q9NS71 21999 199 5.9 2 Secreted NA 0 PE1 -NX_Q9NS73 39281 344 6.78 14 Nucleus;Nucleus;Nucleolus;Cytosol;Cytoplasm NA 0 PE1 -NX_Q9NS75 39635 346 9.63 13 Cell membrane NA 7 PE1 -NX_Q9NS82 56798 523 8.51 19 Nucleus;Membrane;Nucleolus NA 9 PE1 -NX_Q9NS84 54266 486 9.72 X Golgi apparatus membrane NA 1 PE1 -NX_Q9NS85 37563 328 8.22 17 Cytoplasmic vesicle NA 0 PE1 -NX_Q9NS86 50854 450 7.18 7 Cell membrane;Nucleus;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9NS87 160160 1388 5.75 3 Cytoplasm;Spindle NA 0 PE1 -NX_Q9NS91 56223 495 7.51 3 Nucleus;Nucleus;Centrosome;Nucleoplasm NA 0 PE1 -NX_Q9NS93 64166 570 6.56 12 Cytosol;Cell membrane;Nucleus NA 7 PE1 -NX_Q9NS98 86701 782 7.97 3 Secreted NA 0 PE1 -NX_Q9NSA0 59972 550 8.96 11 Cell membrane NA 12 PE1 -NX_Q9NSA1 22300 209 5.01 19 Secreted NA 0 PE1 -NX_Q9NSA2 71330 647 8.79 X Nucleus;Membrane;Dendrite NA 6 PE1 -NX_Q9NSA3 9170 81 5.33 1 Mitochondrion;Cell membrane;Cell junction;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NSB2 64842 600 7.74 12 NA NA 0 PE1 -NX_Q9NSB4 56653 513 6.4 12 NA NA 0 PE1 -NX_Q9NSB8 40627 354 6.03 15 Cytosol;Cytoplasm;Postsynaptic density;Synapse;Stereocilium Deafness, autosomal dominant, 68 0 PE1 -NX_Q9NSC2 140405 1324 6.57 16 Nucleus;Cytosol;Nucleus Townes-Brocks syndrome 1 0 PE1 -NX_Q9NSC5 39836 361 5.39 19 Cytoplasm;Cytosol;Cell membrane;Cytosol;Postsynaptic density;Synapse NA 0 PE1 -NX_Q9NSC7 68564 600 9.93 17 Golgi apparatus membrane NA 1 PE1 -NX_Q9NSD4 48443 429 9.33 X Nucleus;Nucleolus NA 0 PE1 -NX_Q9NSD5 68009 602 7.36 12 Cell membrane;Mitochondrion NA 12 PE1 -NX_Q9NSD7 51124 469 9.07 5 Cell membrane NA 7 PE1 -NX_Q9NSD9 66116 589 6.39 2 Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9NSE2 28663 258 6.52 3 Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q9NSE4 113792 1012 6.78 1 Mitochondrion matrix;Mitochondrion Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 0 PE1 -NX_Q9NSE7 30831 274 9.59 21 Membrane NA 2 PE2 -NX_Q9NSG2 96554 853 5.64 1 Mitochondrion NA 0 PE1 -NX_Q9NSI2 25456 230 11.07 21 Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q9NSI5 44593 407 8.14 21 Apical cell membrane;Tight junction NA 1 PE2 -NX_Q9NSI6 262936 2320 8.73 21 Nucleus;Nucleolus;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NSI8 41708 373 5.28 21 Cytoplasm;Ruffle;Nucleus NA 0 PE1 -NX_Q9NSJ1 49689 428 8.9 21 Nucleus NA 0 PE5 -NX_Q9NSK0 68640 619 5.82 6 Cytosol;Mitochondrion;Cytoskeleton NA 0 PE1 -NX_Q9NSK7 16286 152 6.83 19 Mitochondrion;Mitochondrion membrane;Endoplasmic reticulum;Cytosol Neurodegeneration with brain iron accumulation 4;Spastic paraplegia 43, autosomal recessive 1 PE1 -NX_Q9NSN8 57969 517 6.24 8 Cytoskeleton;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9NSP4 19737 180 6.7 22 Kinetochore;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NSQ0 12575 103 9.73 22 NA NA 0 PE5 -NX_Q9NST1 52865 481 6.27 22 Nucleolus;Mitochondrion;Cytosol;Membrane Non-alcoholic fatty liver disease 1 1 PE1 -NX_Q9NSU2 38923 369 8.78 3 Nucleus;Cytosol;Endoplasmic reticulum membrane Vasculopathy, retinal, with cerebral leukodystrophy;Chilblain lupus 1;Aicardi-Goutieres syndrome 1;Systemic lupus erythematosus 0 PE1 -NX_Q9NSV4 136926 1193 6.64 13 Cytoskeleton;Cell membrane;Cytosol Auditory neuropathy, autosomal dominant, 1 0 PE1 -NX_Q9NSY0 57803 501 6.05 8 Cytoplasm;Cytosol NA 0 PE1 -NX_Q9NSY1 129172 1161 6.05 4 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9NSY2 23794 213 6.22 15 NA NA 0 PE1 -NX_Q9NT22 82647 766 7.84 20 Extracellular matrix NA 0 PE1 -NX_Q9NT62 35864 314 4.66 3 Cytoplasm;Cytoplasm;Cell membrane;Cytosol NA 0 PE1 -NX_Q9NT68 307787 2774 6.23 5 Cell membrane;Nucleolus;PML body;Synaptosome;Postsynaptic cell membrane;Growth cone;Filopodium;Dendritic spine;Synapse;Golgi apparatus;Endoplasmic reticulum;Cell membrane NA 1 PE1 -NX_Q9NT99 76434 713 6.8 19 Membrane;Presynaptic cell membrane NA 1 PE1 -NX_Q9NTG1 255449 2253 9.26 22 Membrane NA 11 PE2 -NX_Q9NTG7 43573 399 8.98 11 Mitochondrion matrix NA 0 PE1 -NX_Q9NTI2 129242 1148 7.99 13 Membrane;Cell membrane;Golgi apparatus;Endosome;Photoreceptor outer segment;Nucleoplasm;Cell membrane Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 10 PE1 -NX_Q9NTI5 164667 1447 8.67 13 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NTI7 32759 297 8.92 1 Nucleus;Nucleus NA 0 PE1 -NX_Q9NTJ3 147182 1288 6.37 3 Nucleus speckle;Cytosol;Nucleus;Cytoplasm;Chromosome NA 0 PE1 -NX_Q9NTJ4 115835 1040 6.1 15 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9NTJ5 66967 587 6.66 3 Golgi apparatus;Golgi apparatus;Nucleoplasm;Endoplasmic reticulum membrane NA 3 PE1 -NX_Q9NTK1 23406 212 10.68 10 Mitochondrion;Cytoplasm;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q9NTK5 44744 396 7.64 2 Cytoplasm;Cytoplasm;Cytosol;Nucleus;Nucleolus NA 0 PE1 -NX_Q9NTM9 29341 273 8.47 10 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NTN3 39240 355 9.06 1 Cytoplasm;Endoplasmic reticulum membrane Schneckenbecken dysplasia 8 PE1 -NX_Q9NTN9 91497 838 8.1 10 Cell membrane NA 1 PE1 -NX_Q9NTQ9 30419 266 8.4 1 Cell membrane;Cell junction;Gap junction Erythrokeratodermia variabilis et progressiva 2 4 PE1 -NX_Q9NTU4 22839 200 5.8 11 Cytoplasm;Nucleoplasm;Flagellum membrane NA 0 PE1 -NX_Q9NTU7 21808 201 8.85 20 Secreted;Synapse NA 0 PE1 -NX_Q9NTW7 72217 645 8.8 20 Nucleus NA 0 PE1 -NX_Q9NTX5 33698 307 8.32 6 Cytosol NA 0 PE1 -NX_Q9NTX7 38950 359 5.17 6 Cytoplasm;Nucleoplasm;Nucleus;Cytosol;Cell membrane;Cytosol NA 0 PE1 -NX_Q9NTX9 42052 383 9.76 20 Nucleoplasm NA 0 PE1 -NX_Q9NTZ6 97395 932 8.74 20 Nucleus;Nucleoplasm Schizophrenia 19 0 PE1 -NX_Q9NU02 86664 776 8.51 20 Cytosol;Cell membrane;Nucleolus NA 0 PE1 -NX_Q9NU19 59081 505 6.94 6 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9NU22 632820 5596 5.46 6 Nucleolus;Nucleus;Cytosol;Nucleolus;Cytoskeleton;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9NU23 10449 88 10.46 6 Cytoplasm;Cytosol NA 0 PE1 -NX_Q9NU39 43610 408 9.36 2 Nucleus NA 0 PE1 -NX_Q9NU53 36840 330 4.81 6 Nucleolus;Cell membrane;Membrane NA 1 PE1 -NX_Q9NU63 51919 452 9.34 6 Nucleus Transient neonatal diabetes mellitus 1 0 PE1 -NX_Q9NUA8 138118 1239 6.11 1 Nucleus;Nucleus NA 0 PE1 -NX_Q9NUB1 74857 689 6.66 20 Mitochondrion matrix NA 0 PE1 -NX_Q9NUB4 17394 165 7.8 20 Membrane NA 1 PE2 -NX_Q9NUC0 39348 356 6.27 1 Nucleoplasm NA 0 PE1 -NX_Q9NUD5 43618 404 8.86 20 Cytoplasmic vesicle NA 0 PE1 -NX_Q9NUD7 42859 363 8.81 20 Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9NUD9 55713 493 8.2 1 Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum Hyperphosphatasia with mental retardation syndrome 1 10 PE1 -NX_Q9NUE0 42031 388 9.33 1 Membrane;Cytoskeleton NA 4 PE1 -NX_Q9NUG4 62179 571 5.62 20 Nucleoplasm NA 0 PE1 -NX_Q9NUG6 15511 133 5.81 20 Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q9NUH8 12078 114 9.57 6 Membrane NA 4 PE2 -NX_Q9NUI1 30778 292 9.38 16 Peroxisome;Peroxisome NA 0 PE1 -NX_Q9NUJ1 33933 306 8.81 3 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9NUJ3 57035 509 5.41 11 Cytosol NA 0 PE1 -NX_Q9NUJ7 36668 323 6.11 X Cytoplasm;Cytosol NA 0 PE1 -NX_Q9NUK0 38532 354 9.13 X Nucleus;Cytoplasmic vesicle;Golgi apparatus;Cytoplasm NA 0 PE1 -NX_Q9NUL3 62641 570 9.62 8 Nucleus;Nucleolus;Cytoplasm;Cytosol;Nucleoplasm;Endoplasmic reticulum NA 0 PE1 -NX_Q9NUL5 33110 291 6.86 19 Nucleus;Cytoplasm NA 0 PE1 -NX_Q9NUL7 59581 540 10.43 16 Mitochondrion;Cytosol;Nucleolus;Nucleus;Mitochondrion;Mitochondrion nucleoid;Mitochondrion matrix NA 0 PE1 -NX_Q9NUM3 32251 307 6.21 14 Endoplasmic reticulum;Membrane NA 8 PE1 -NX_Q9NUM4 31127 274 6.52 7 Endosome;Late endosome membrane;Lysosome membrane;Membrane;Lysosome Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;Ubiquitin-positive frontotemporal dementia 1 PE1 -NX_Q9NUN5 61389 540 7.89 6 Lysosome membrane Methylmalonic aciduria and homocystinuria type cblF 9 PE1 -NX_Q9NUN7 31552 267 8.87 11 Endoplasmic reticulum membrane;Golgi apparatus membrane NA 7 PE1 -NX_Q9NUP1 23351 217 4.9 4 Cytoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q9NUP7 54247 481 8.36 1 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q9NUP9 21834 197 8.52 11 Cell membrane;Basolateral cell membrane;Cell junction;Postsynaptic density;Tight junction;Synaptosome NA 0 PE1 -NX_Q9NUQ2 42072 364 9.18 8 Mitochondrion;Endoplasmic reticulum membrane;Nucleus envelope;Mitochondrion NA 3 PE1 -NX_Q9NUQ3 60586 528 7.23 X Cytosol;Cytosol;Nucleus membrane NA 0 PE1 -NX_Q9NUQ6 61729 558 9.67 2 Cytoskeleton;Nucleus;Nucleolus;Cytosol;Nucleolus;Nucleolus;Cytoplasm;Cytoplasm NA 0 PE1 -NX_Q9NUQ7 53261 469 6.52 4 Nucleus;Cytoplasm;Endoplasmic reticulum;Nucleus;Cytosol Beukes familial hip dysplasia 0 PE1 -NX_Q9NUQ8 79745 709 5.95 3 Nucleolus;Cytosol NA 0 PE1 -NX_Q9NUQ9 36748 324 5.76 8 Membrane;Nucleus;Cytosol NA 0 PE1 -NX_Q9NUR3 27551 256 6.97 20 Nucleoplasm;Membrane;Golgi apparatus NA 2 PE2 -NX_Q9NUS5 22522 200 6.38 20 Nucleoplasm;Cytosol;Lysosome membrane;Cytosol;Late endosome membrane NA 0 PE1 -NX_Q9NUT2 79989 735 9.21 7 Mitochondrion;Nucleus;Mitochondrion inner membrane NA 5 PE1 -NX_Q9NUU6 42196 356 9.36 5 Cytosol;Nucleolus NA 0 PE1 -NX_Q9NUU7 53975 478 6.2 16 Cytoplasm;Nuclear pore complex;Nucleus membrane NA 0 PE1 -NX_Q9NUV7 62049 552 8.9 20 Cytoskeleton;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9NUV9 37534 329 7.66 7 Cytosol NA 0 PE1 -NX_Q9NUW8 68420 608 7.34 14 Cell membrane;Nucleus;Nucleus;Cytoplasm Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 0 PE1 -NX_Q9NUX5 71442 634 6.26 7 Nucleus;Telomere;Nucleus Melanoma, cutaneous malignant 10;Glioma 9 0 PE1 -NX_Q9NUY8 78322 699 5.23 3 Golgi apparatus NA 0 PE1 -NX_Q9NUZ1 61795 547 8.78 2 Nucleolus;Cytosol NA 0 PE2 -NX_Q9NV06 51402 445 9.3 8 Nucleus;Nucleolus;Centrosome;Cytosol;Cell junction;Nucleolus NA 0 PE1 -NX_Q9NV12 20419 185 7.62 7 Membrane NA 4 PE1 -NX_Q9NV23 29931 265 5.81 10 NA NA 0 PE1 -NX_Q9NV29 14386 134 9.55 17 Cell membrane;Membrane;Perikaryon;Perinuclear region;Endoplasmic reticulum NA 2 PE1 -NX_Q9NV31 21850 184 9.54 15 Nucleus;Nucleus;Nucleolus;Nucleolus NA 0 PE1 -NX_Q9NV35 18609 164 5.75 13 Nucleoplasm NA 0 PE1 -NX_Q9NV39 14718 138 12.42 22 NA NA 0 PE1 -NX_Q9NV44 13706 126 7.06 21 NA NA 0 PE5 -NX_Q9NV56 22417 204 5.57 20 Nucleus;Nucleus NA 0 PE1 -NX_Q9NV58 90696 838 6.59 8 Membrane;Centrosome NA 2 PE1 -NX_Q9NV64 55667 488 9.01 3 Membrane;Nucleoplasm;Cytoplasmic vesicle NA 8 PE1 -NX_Q9NV66 83702 732 6.42 7 NA NA 0 PE1 -NX_Q9NV70 101982 894 6.17 4 Cell membrane;Midbody ring;Cytosol;Cytoskeleton;Cytoplasm;Perinuclear region NA 0 PE1 -NX_Q9NV72 60903 531 9.41 19 Microtubule organizing center;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NV79 41072 361 5.8 20 Cytoplasm;Nucleoplasm;Cytoplasm;Mitochondrion NA 0 PE1 -NX_Q9NV88 73814 658 5.9 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NV92 36390 336 4.99 13 Cytoplasmic vesicle;Endosome membrane;Golgi apparatus membrane;Multivesicular body membrane NA 3 PE1 -NX_Q9NV96 40684 361 8.81 6 Membrane;Cell membrane;Golgi apparatus;Apical cell membrane;Mitochondrion;Secretory vesicle membrane NA 2 PE1 -NX_Q9NVA1 34600 299 9.1 20 Mitochondrion inner membrane;Cytoplasmic vesicle;Cell membrane;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q9NVA2 49398 429 6.36 4 Cell membrane;Cytoskeleton;Cytoplasm;Synapse;Dendritic spine;Cytoskeleton;Axon NA 0 PE1 -NX_Q9NVA4 50142 438 5.85 4 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 7 PE1 -NX_Q9NVC3 49966 462 4.98 16 Cytosol;Nucleoplasm;Endosome;Membrane;Cell membrane NA 11 PE1 -NX_Q9NVC6 72890 651 7.05 11 Cytoplasmic vesicle;Nucleus Microcephaly, postnatal progressive, with seizures and brain atrophy 0 PE1 -NX_Q9NVD3 50416 440 8.53 21 Nucleus speckle NA 0 PE1 -NX_Q9NVD7 42244 372 5.69 11 Focal adhesion;Cytoskeleton;Focal adhesion;Cell membrane;Cytoskeleton;Z line;Cytosol NA 0 PE1 -NX_Q9NVE4 96402 849 8.74 11 NA NA 0 PE1 -NX_Q9NVE5 140130 1235 5.46 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q9NVE7 85991 773 5.88 1 Cytoplasm;Cytosol NA 0 PE1 -NX_Q9NVF7 41149 368 9.59 1 Nucleoplasm;Focal adhesion;Kinetochore NA 0 PE1 -NX_Q9NVF9 44781 386 6.94 1 NA NA 0 PE1 -NX_Q9NVG8 46554 400 5.11 9 Cytoplasm;Membrane;Nucleolus NA 0 PE1 -NX_Q9NVH0 70353 621 8.63 14 Mitochondrion;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9NVH1 63278 559 8.54 1 Cytosol;Mitochondrion outer membrane;Mitochondrion NA 0 PE1 -NX_Q9NVH2 106834 962 8.3 1 Centrosome;Nucleus speckle;Nucleus;Nucleus;Cytoplasm;Chromosome NA 0 PE1 -NX_Q9NVH6 49518 421 7.64 X Mitochondrion;Mitochondrion;Mitochondrion matrix Autism, X-linked 6 0 PE1 -NX_Q9NVI1 149324 1328 6.31 15 Nucleoplasm;Nucleus Fanconi anemia complementation group I 0 PE1 -NX_Q9NVI7 71369 634 9.08 1 Mitochondrion nucleoid;Mitochondrion inner membrane Harel-Yoon syndrome 1 PE1 -NX_Q9NVJ2 21539 186 8.67 3 Late endosome membrane;Lysosome membrane;Spindle NA 0 PE1 -NX_Q9NVK5 29426 253 5.69 12 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q9NVL1 18454 165 8.51 11 NA NA 0 PE1 -NX_Q9NVL8 34690 296 9.28 14 Cytosol;Nucleus NA 0 PE1 -NX_Q9NVM1 18374 165 4.62 1 Cytosol;Membrane NA 1 PE1 -NX_Q9NVM4 78459 692 5.33 16 Nucleoplasm;Cytosol;Nucleus;Nucleolus Short stature, brachydactyly, intellectual developmental disability, and seizures 0 PE1 -NX_Q9NVM6 34687 304 8.61 15 Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9NVM9 80225 706 6.24 12 Nucleus;Cytoplasm NA 0 PE1 -NX_Q9NVN3 58825 520 5.52 12 Centrosome;Cytosol;Cell cortex NA 0 PE1 -NX_Q9NVN8 65573 582 8.68 X Nucleus;Cytosol;Nucleolus;Nucleolus NA 0 PE1 -NX_Q9NVP1 75407 670 9.52 2 Nucleolus;Nucleus;Nucleolus;Nucleolus;Chromosome NA 0 PE1 -NX_Q9NVP2 22434 202 4.46 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NVP4 82192 752 8.44 20 Nucleolus NA 0 PE1 -NX_Q9NVQ4 20215 179 5.55 3 Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q9NVR0 80148 708 5.78 17 NA NA 0 PE1 -NX_Q9NVR2 82236 710 7.24 8 Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9NVR5 91114 837 5.1 14 Cytosol;Cytoplasm Ciliary dyskinesia, primary, 10 0 PE1 -NX_Q9NVR7 63530 557 8.93 3 Spindle pole;Centrosome NA 0 PE1 -NX_Q9NVS2 22184 196 10.35 6 Mitochondrion NA 0 PE1 -NX_Q9NVS9 29988 261 6.61 17 Cytosol;Nucleoplasm Pyridoxine-5'-phosphate oxidase deficiency 0 PE1 -NX_Q9NVT9 31281 282 5.54 8 Mitochondrion NA 0 PE1 -NX_Q9NVU0 79898 708 6.05 16 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NVU7 79871 687 9.29 4 Nucleolus;Nucleus;Nucleolus NA 0 PE1 -NX_Q9NVV0 32510 291 9.16 9 Endoplasmic reticulum membrane Osteogenesis imperfecta 14 7 PE1 -NX_Q9NVV2 13750 129 12 19 Nucleus;Cytosol NA 0 PE1 -NX_Q9NVV4 66172 582 9.24 10 Cytoplasm;Mitochondrion;Mitochondrion Spastic ataxia 4, autosomal recessive 0 PE1 -NX_Q9NVV5 28222 245 8.49 6 Golgi apparatus;Membrane NA 6 PE1 -NX_Q9NVV9 24944 213 8.66 8 Nucleus;Nucleoplasm;PML body Dystonia 6, torsion 0 PE1 -NX_Q9NVW2 68549 624 7.2 X Nucleoplasm;Nucleus;Cytosol Mental retardation, X-linked 61 0 PE1 -NX_Q9NVX0 26933 235 7.74 15 Nucleoplasm;Centrosome;Spindle;Centrosome;Cytosol NA 0 PE1 -NX_Q9NVX2 53320 485 6.92 17 Nucleolus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NVX7 58144 518 5.42 11 Cytoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA 0 PE1 -NX_Q9NVZ3 28339 263 8.49 1 Cytoplasm;Nucleus;Endoplasmic reticulum;Clathrin-coated vesicle membrane;Cell membrane NA 0 PE1 -NX_Q9NW07 59287 568 6.11 19 Nucleus;Nucleus NA 0 PE1 -NX_Q9NW08 127785 1133 8.77 12 Nucleus speckle;Nucleus Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 0 PE1 -NX_Q9NW13 85738 759 9.26 7 Nucleolus;Nucleolus Alopecia, neurologic defects, and endocrinopathy syndrome 0 PE1 -NX_Q9NW15 76329 660 7.1 3 Cell membrane Spinocerebellar ataxia, autosomal recessive, 10 8 PE1 -NX_Q9NW38 42905 375 6.02 2 Cytoplasmic vesicle;Nucleus;Cytoplasm;Nucleus Fanconi anemia complementation group L 0 PE1 -NX_Q9NW61 17551 149 7.69 19 Mitochondrion NA 0 PE1 -NX_Q9NW64 46896 420 8.83 5 Nucleus;Cytoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q9NW68 47163 430 4.43 1 Golgi apparatus NA 0 PE1 -NX_Q9NW75 58944 528 9.2 1 Nucleolus;Nucleus speckle;Nucleus speckle NA 0 PE1 -NX_Q9NW81 29267 257 6 19 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9NW82 73201 654 5.94 5 Cytosol;Mitochondrion NA 0 PE1 -NX_Q9NW97 27759 253 5.4 1 Cytosol;Membrane;Nucleoplasm NA 2 PE1 -NX_Q9NWA0 16403 146 6.84 17 Midbody;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NWB1 42784 397 6.37 16 Cytoplasm;Cytosol;Nucleus;Golgi apparatus;Nucleus NA 0 PE1 -NX_Q9NWB6 33216 273 10.35 13 Nucleus;Nucleoplasm;Nucleus;Mitochondrion NA 0 PE1 -NX_Q9NWB7 49108 429 4.93 3 Cilium basal body;Cytosol;Nucleus speckle;Mitochondrion NA 0 PE1 -NX_Q9NWC5 31680 275 7.13 3 Cytoskeleton;Membrane;Cytoskeleton NA 5 PE1 -NX_Q9NWD8 35052 314 5.91 7 Membrane;Cytoplasmic vesicle NA 4 PE1 -NX_Q9NWD9 14067 120 5.97 X Nucleus;Cytoplasm;Nucleus;Spindle pole;Cytosol NA 0 PE1 -NX_Q9NWF4 46317 448 5.9 17 Cell membrane Riboflavin deficiency 11 PE1 -NX_Q9NWF9 99406 866 4.83 7 Nucleus;Nucleoplasm;Cytosol;Cytoplasm Gordon Holmes syndrome 0 PE1 -NX_Q9NWH2 14758 141 9.17 6 Membrane NA 2 PE1 -NX_Q9NWH7 55989 488 8.8 1 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus;Secreted;Flagellum NA 0 PE1 -NX_Q9NWH9 117148 1034 7.69 15 Nucleus;Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q9NWK9 53918 470 5.62 1 Cytoplasmic vesicle;Nucleus speckle NA 0 PE1 -NX_Q9NWL6 72080 643 6.4 2 Cytosol NA 0 PE1 -NX_Q9NWM0 61819 555 5.29 20 Cytoplasm;Nucleus;Nucleus membrane;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q9NWM3 42258 386 5.48 17 Cytosol;Centrosome;Mitochondrion NA 0 PE1 -NX_Q9NWM8 24172 211 5.7 7 Cytosol;Golgi apparatus;Endoplasmic reticulum lumen;Nucleus Ehlers-Danlos syndrome, with progressive kyphoscoliosis, myopathy, and hearing loss 0 PE1 -NX_Q9NWN3 78711 711 8.32 14 Nucleus speckle NA 0 PE1 -NX_Q9NWQ4 54260 482 8.77 14 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9NWQ8 46981 432 4.57 8 Cell membrane;Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_Q9NWQ9 16009 140 4.89 14 Cytosol;Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9NWR8 39082 336 9.23 4 Nucleoplasm;Cytosol;Mitochondrion inner membrane NA 2 PE1 -NX_Q9NWS0 32363 290 5.05 19 Cytosol NA 0 PE1 -NX_Q9NWS1 65054 579 8.96 12 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9NWS6 40269 357 5.7 22 Cytosol;Membrane;Cytoskeleton NA 1 PE1 -NX_Q9NWS8 51604 449 8.88 6 Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 11 0 PE1 -NX_Q9NWS9 48957 450 5.72 19 Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9NWT1 43964 392 9.07 6 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q9NWT6 40285 349 5.39 10 Nucleoplasm;Perinuclear region;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9NWT8 22354 199 10.76 1 Mitochondrion;Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NWU1 48843 459 7.59 3 Mitochondrion;Mitochondrion;Cytosol NA 0 PE1 -NX_Q9NWU2 26749 228 4.92 20 Nucleus;Cell junction;Nucleoplasm NA 0 PE1 -NX_Q9NWU5 23641 206 9.95 5 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9NWV4 18048 160 4.93 1 Cytosol NA 0 PE1 -NX_Q9NWV8 36560 329 4.6 19 Nucleus;Cytoplasm;Cytoplasm;Nucleus;Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_Q9NWW0 15291 138 6.83 16 Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NWW5 35919 311 8.94 15 Cytoplasmic vesicle;Endoplasmic reticulum;Endoplasmic reticulum membrane Ceroid lipofuscinosis, neuronal, 4A;Ceroid lipofuscinosis, neuronal, 6 7 PE1 -NX_Q9NWW6 23193 199 4.82 9 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9NWW7 64077 574 9.15 2 Nucleus NA 0 PE1 -NX_Q9NWW9 17394 162 9.3 11 Membrane;Cytoplasm NA 1 PE1 -NX_Q9NWX5 47136 421 5.62 9 Cytoplasm NA 0 PE1 -NX_Q9NWX6 34831 298 8.12 5 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q9NWY4 39436 346 6.34 4 Nucleus NA 0 PE1 -NX_Q9NWZ3 51530 460 5.24 12 Cytoplasm;Cytoskeleton;Cytosol;Nucleolus Recurrent isolated invasive pneumococcal disease 1;IRAK4 deficiency 0 PE1 -NX_Q9NWZ5 61141 548 6.93 20 Endoplasmic reticulum;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9NWZ8 28637 242 6.31 X Gem;Cytoplasm;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9NX00 19658 188 7.84 19 Membrane NA 3 PE1 -NX_Q9NX01 17015 149 5.63 16 Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9NX02 120515 1062 5.74 19 Cytoplasmic vesicle;Golgi apparatus;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9NX04 23373 203 5.47 1 Cytosol;Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9NX05 120588 1096 9.19 X Nucleus speckle NA 0 PE1 -NX_Q9NX07 32499 287 4.61 1 Cytosol;Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NX08 21090 183 5.3 4 Nucleus;Cytoplasm;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9NX09 25371 232 4.87 10 Nucleus;Cytosol;Mitochondrion;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9NX14 17317 153 5.17 X Mitochondrion;Mitochondrion inner membrane;Mitochondrion Cardiomyopathy, infantile histiocytoid;Linear skin defects with multiple congenital anomalies 3;Mitochondrial complex I deficiency 1 PE1 -NX_Q9NX18 19599 166 6.33 11 Nucleolus;Mitochondrion matrix;Mitochondrion;Cytosol Paragangliomas 2 0 PE1 -NX_Q9NX20 28449 251 10.13 11 Mitochondrion NA 0 PE1 -NX_Q9NX24 17201 153 8.48 5 Cytosol;Nucleoplasm;Nucleolus;Cajal body Dyskeratosis congenita, autosomal recessive, 2 0 PE1 -NX_Q9NX31 31779 292 8.74 20 Nucleolus;Nucleus speckle NA 0 PE1 -NX_Q9NX36 45806 388 9.57 21 NA NA 0 PE1 -NX_Q9NX38 20378 181 8.12 9 Nucleus speckle;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9NX40 27626 245 7.02 4 Endosome;Mitochondrion NA 0 PE1 -NX_Q9NX45 46941 425 6.79 13 Cytoplasmic vesicle;Nucleus NA 0 PE2 -NX_Q9NX46 38947 363 4.95 1 Cytoplasm;Mitochondrion matrix;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NX47 31232 278 9 10 Mitochondrion outer membrane;Endoplasmic reticulum membrane;Mitochondrion NA 4 PE1 -NX_Q9NX52 34021 303 6.61 1 Cell membrane NA 7 PE1 -NX_Q9NX53 26357 252 9.73 9 NA NA 0 PE1 -NX_Q9NX55 14665 129 4.9 15 Cytoplasm;Cytoskeleton;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NX57 26277 234 6.12 13 Cytoplasmic vesicle;Golgi apparatus;Phagosome membrane;Phagosome;Golgi apparatus NA 0 PE1 -NX_Q9NX58 43615 379 9.57 4 Nucleolus;Nucleus;Nucleolus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NX61 53602 479 8.75 19 Cytosol;Membrane NA 8 PE1 -NX_Q9NX62 38681 359 6.38 8 Cytosol;Nucleus;Golgi apparatus;trans-Golgi network membrane Chondrodysplasia with joint dislocations, GPAPP type 1 PE1 -NX_Q9NX63 26152 227 8.48 7 Mitochondrion;Mitochondrion;Nucleus;Mitochondrion inner membrane;Cytoplasm NA 0 PE1 -NX_Q9NX65 78728 697 8.37 16 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NX70 21073 200 5.86 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NX74 55050 493 6.74 16 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_Q9NX76 20419 183 5.23 3 Cytoskeleton;Cytosol;Membrane NA 3 PE1 -NX_Q9NX77 55045 482 8.96 16 Virion;Cell membrane NA 1 PE2 -NX_Q9NX78 79536 707 8.67 14 Membrane;Cytosol;Nucleus;Focal adhesion;Membrane Structural heart defects and renal anomalies syndrome 8 PE1 -NX_Q9NX94 37828 342 5.02 10 Membrane;Nucleoplasm;Cytoskeleton NA 1 PE1 -NX_Q9NX95 72388 663 5.87 8 Cytoplasmic vesicle;Cytoskeleton;Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 -NX_Q9NXA8 33881 310 8.82 6 Mitochondrion matrix;Mitochondrion intermembrane space;Cytosol;Nucleus;Cytoplasm;Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9NXB0 64528 559 6.04 17 Centrosome;Cilium basal body Meckel syndrome 1;Bardet-Biedl syndrome 13;Joubert syndrome 28 0 PE1 -NX_Q9NXB9 34585 296 9.32 6 Endoplasmic reticulum membrane NA 7 PE1 -NX_Q9NXC2 43158 390 5.63 6 Cytosol;Secreted;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q9NXC5 98584 875 6.29 7 Cytosol;Nucleoplasm;Lysosome membrane NA 0 PE1 -NX_Q9NXD2 88273 777 8.78 15 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NXE4 93352 827 8.11 2 Nucleus membrane;Cytosol;Endoplasmic reticulum membrane;Golgi apparatus membrane NA 1 PE1 -NX_Q9NXE8 49647 425 10.18 17 Nucleus speckle NA 0 PE1 -NX_Q9NXF1 105674 929 9.43 9 Cytoplasm;Nucleolus;Nucleoplasm NA 0 PE1 -NX_Q9NXF7 24193 216 5.71 4 Cell membrane;Cytosol NA 0 PE1 -NX_Q9NXF8 35140 308 8.28 16 Golgi apparatus membrane;Golgi apparatus NA 4 PE1 -NX_Q9NXG0 161603 1405 8.28 9 Centrosome;Cytosol;Nucleoplasm;Centriole NA 0 PE1 -NX_Q9NXG2 39315 353 8.01 16 Cytosol NA 0 PE1 -NX_Q9NXG6 56661 502 5.68 3 Cytosol;Endoplasmic reticulum membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q9NXH3 16508 145 7.72 15 Cytoplasm NA 0 PE1 -NX_Q9NXH8 46914 423 9.98 9 Membrane;Nucleoplasm NA 1 PE1 -NX_Q9NXH9 72234 659 7.77 19 Nucleus;Cell membrane;Cytosol NA 0 PE1 -NX_Q9NXI6 24145 227 7.02 1 Membrane NA 2 PE2 -NX_Q9NXJ0 28069 267 6.81 11 Membrane NA 4 PE1 -NX_Q9NXJ5 23138 209 5.54 19 Golgi apparatus;Cytoplasm NA 0 PE1 -NX_Q9NXK6 38014 330 8.6 15 Cytoplasmic vesicle;Cell membrane NA 7 PE1 -NX_Q9NXK8 37026 326 9.11 19 Mitochondrion NA 0 PE1 -NX_Q9NXL2 89078 777 5.87 4 Centrosome;Nucleoplasm NA 0 PE1 -NX_Q9NXL6 93839 827 6.95 3 Membrane NA 11 PE1 -NX_Q9NXL9 127313 1143 7.87 6 Nucleoplasm;Nucleus Ovarian dysgenesis 4 0 PE1 -NX_Q9NXN4 56225 497 5.48 1 Endoplasmic reticulum NA 0 PE1 -NX_Q9NXP7 59842 522 8.01 5 Nucleolus;Nucleus NA 0 PE1 -NX_Q9NXR1 38808 346 5.2 16 Spindle;Kinetochore;Cytoskeleton;Cleavage furrow;Centrosome Lissencephaly 4;Microhydranencephaly 0 PE1 -NX_Q9NXR5 44768 420 5.58 13 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9NXR7 43552 383 5.53 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NXR8 46743 418 5.88 7 Nucleus;Nucleus Squamous cell carcinoma of the head and neck 0 PE1 -NX_Q9NXS2 42924 382 9.84 19 Golgi apparatus;Golgi apparatus membrane NA 1 PE1 -NX_Q9NXS3 64192 571 5.74 14 Cytosol NA 0 PE2 -NX_Q9NXT0 46413 402 9.14 19 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NXU5 22876 204 5.41 5 Cell membrane;Cell junction;Golgi apparatus NA 0 PE1 -NX_Q9NXV2 26093 234 5.89 16 Cytosol;Nucleus NA 0 PE1 -NX_Q9NXV6 61125 580 9.13 4 Nucleoplasm;Nucleoplasm NA 0 PE1 -NX_Q9NXW2 41819 375 8.67 10 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus membrane NA 1 PE1 -NX_Q9NXW9 33838 302 6.27 7 Cytoplasm;Nucleus;Midbody NA 0 PE1 -NX_Q9NXX6 44301 385 5.25 10 Cytoplasm;Nucleoplasm;Telomere;Nucleus NA 0 PE1 -NX_Q9NXZ1 99225 904 6.02 X Nucleus NA 0 PE1 -NX_Q9NXZ2 72844 648 8.91 6 Nucleus;Cytoplasm NA 0 PE1 -NX_Q9NY12 22348 217 10.91 4 Nucleolus;Cajal body;Nucleolus;Nucleus NA 0 PE1 -NX_Q9NY15 275482 2570 6.05 3 Membrane NA 1 PE1 -NX_Q9NY25 21521 188 9.04 7 Cell membrane NA 1 PE1 -NX_Q9NY26 34250 324 5.6 1 Cell membrane;Cytosol;Endoplasmic reticulum membrane NA 8 PE1 -NX_Q9NY27 46898 417 4.48 3 Centrosome;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NY28 72851 637 9.02 12 Golgi apparatus membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q9NY30 25970 223 8.86 11 Golgi apparatus;Endoplasmic reticulum NA 0 PE2 -NX_Q9NY33 82589 737 5.01 11 Cell membrane;Cytosol;Nucleus speckle;Cytosol NA 0 PE1 -NX_Q9NY35 28603 253 5.53 3 Cytosol;Membrane;Nucleolus;Nucleus NA 4 PE1 -NX_Q9NY37 57464 505 8.51 4 Cell membrane NA 2 PE1 -NX_Q9NY43 41981 387 8.67 1 Nucleus NA 0 PE1 -NX_Q9NY46 226294 2000 5.6 2 Cell membrane NA 24 PE1 -NX_Q9NY47 129817 1150 5.54 3 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q9NY56 19318 170 8.37 9 Secreted NA 0 PE1 -NX_Q9NY57 47883 414 7.63 4 Cytoskeleton NA 0 PE1 -NX_Q9NY59 71081 655 5.52 16 Endoplasmic reticulum;Golgi apparatus membrane;Cell membrane NA 0 PE1 -NX_Q9NY61 63133 560 4.83 17 Nucleolus NA 0 PE1 -NX_Q9NY64 50819 477 7.55 9 Cell membrane;Cytoplasmic vesicle membrane;Cytoplasmic vesicle NA 12 PE1 -NX_Q9NY65 50094 449 4.94 22 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 8 0 PE1 -NX_Q9NY72 24702 215 4.69 11 Cell membrane;Golgi apparatus;Membrane;Cytoskeleton;Nucleus membrane Brugada syndrome 7;Atrial fibrillation, familial, 16 1 PE1 -NX_Q9NY74 103440 926 7.71 2 Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9NY84 56118 501 5.66 6 Cell membrane NA 0 PE2 -NX_Q9NY87 10982 97 5.22 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q9NY91 72456 659 5.8 22 Cell membrane NA 11 PE1 -NX_Q9NY93 61590 547 9.34 7 Nucleus;Nucleolus NA 0 PE1 -NX_Q9NY97 46022 397 8.75 2 Golgi apparatus membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q9NY99 60217 539 7.59 2 Cytoskeleton;Sarcolemma NA 0 PE1 -NX_Q9NYA1 42518 384 6.64 17 Cytoplasm;Cytosol;Cell membrane;Nucleus;Cell membrane NA 0 PE1 -NX_Q9NYA3 79946 693 5.34 15 NA NA 0 PE1 -NX_Q9NYA4 133353 1195 5.68 17 Cytoplasm;Membrane NA 0 PE1 -NX_Q9NYB0 44260 399 4.64 16 Nucleus;Nucleus;Cytoplasm;Chromosome;Telomere;Nucleoplasm NA 0 PE1 -NX_Q9NYB5 78696 712 8.82 12 Cell membrane NA 12 PE2 -NX_Q9NYB9 55663 513 5.82 2 Nucleoplasm;Cytoskeleton;Cytoplasm;Filopodium;Lamellipodium NA 0 PE1 -NX_Q9NYC9 511877 4486 5.64 17 Cilium axoneme NA 0 PE1 -NX_Q9NYD6 38073 342 8.45 12 Nucleus;Nucleus NA 0 PE1 -NX_Q9NYF0 90174 836 8.93 14 Cytoplasm;Nucleus;Synapse;Nucleoplasm Neural tube defects 0 PE1 -NX_Q9NYF3 43091 392 9 5 NA NA 0 PE1 -NX_Q9NYF5 104543 915 4.87 5 Nucleoplasm NA 0 PE1 -NX_Q9NYF8 106122 920 9.99 6 Cytoplasm;Nucleus speckle;Nucleus;Nucleus speckle;Nucleoplasm NA 0 PE1 -NX_Q9NYG2 34170 299 8.54 3 Golgi apparatus membrane;Golgi apparatus NA 4 PE1 -NX_Q9NYG5 9841 84 7.99 17 Cytoplasm;Nucleus;Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q9NYG8 42704 393 8.91 11 Cell membrane NA 4 PE1 -NX_Q9NYH9 70194 597 6.92 17 Nucleolus;Nucleolus NA 0 PE1 -NX_Q9NYI0 116034 1048 5.68 8 Cytoplasmic vesicle;Nucleus;Postsynaptic density;Ruffle membrane;Cell membrane NA 0 PE1 -NX_Q9NYJ1 10134 87 5.65 11 Nucleus;Cytoplasm;Nucleus;Nucleolus;Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9NYJ7 64618 618 7.86 19 Cytosol;Nucleoplasm;Membrane Spondylocostal dysostosis 1, autosomal recessive 1 PE1 -NX_Q9NYJ8 76494 693 8.8 6 Cytosol;Membrane;Cytosol Congenital heart defects, multiple types, 2 0 PE1 -NX_Q9NYK1 120922 1049 8.51 X Phagosome;Endoplasmic reticulum membrane;Endosome;Lysosome NA 1 PE1 -NX_Q9NYK5 38712 338 7.56 21 Mitochondrion NA 0 PE1 -NX_Q9NYK6 33948 297 6.1 21 Cytoplasm;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q9NYL2 91155 800 7.9 2 Cytosol;Cytoplasm;Nucleus Split-foot malformation with mesoaxial polydactyly 0 PE1 -NX_Q9NYL4 22180 201 9.44 12 Centrosome;Membrane NA 1 PE1 -NX_Q9NYL5 54116 469 8.85 6 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_Q9NYL9 39595 352 5.08 15 Cytosol;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q9NYM4 48339 423 9.32 11 Cell membrane NA 7 PE2 -NX_Q9NYM9 12388 111 7.87 11 Nucleus;Golgi apparatus;trans-Golgi network membrane;Golgi apparatus membrane NA 1 PE1 -NX_Q9NYN1 29662 266 9.16 15 NA NA 0 PE1 -NX_Q9NYP3 62747 566 8.84 21 Cytosol;Nucleus;Nucleoplasm;Cell junction Microcephaly-micromelia syndrome;Microcephaly, short stature, and limb abnormalities 0 PE1 -NX_Q9NYP7 35293 299 9.49 6 Endoplasmic reticulum;Endoplasmic reticulum membrane;Dendrite Spinocerebellar ataxia 38 7 PE1 -NX_Q9NYP8 24886 219 8.31 21 NA NA 0 PE2 -NX_Q9NYP9 25863 233 5.14 21 Nucleus;Nucleus;Chromosome;Nucleus;Cytosol;Centromere NA 0 PE1 -NX_Q9NYQ3 38839 351 7.57 1 Peroxisome NA 0 PE1 -NX_Q9NYQ6 329486 3014 5.59 22 Cell membrane;Cell membrane Neural tube defects 7 PE1 -NX_Q9NYQ7 358185 3312 6.23 3 Cell membrane NA 7 PE1 -NX_Q9NYQ8 479317 4349 5 5 Cell membrane;Cell junction;Nucleus NA 1 PE1 -NX_Q9NYR8 33755 311 8.74 19 Membrane NA 3 PE1 -NX_Q9NYR9 21508 191 8.22 17 Nucleus;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q9NYS0 21643 192 5.99 3 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q9NYS7 45286 404 8.36 12 NA NA 0 PE1 -NX_Q9NYT0 39971 353 9.45 14 Cytoplasmic vesicle;Cytosol;Cytoskeleton;Lamellipodium membrane NA 0 PE1 -NX_Q9NYT6 91921 803 9.01 19 Nucleus;Nucleus NA 0 PE1 -NX_Q9NYU1 174735 1516 6.43 13 Endoplasmic reticulum lumen;Endoplasmic reticulum-Golgi intermediate compartment NA 0 PE1 -NX_Q9NYU2 177190 1555 5.42 2 Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum lumen NA 0 PE1 -NX_Q9NYV4 164155 1490 9.46 17 Nucleus speckle;Nucleus;Nucleus NA 0 PE1 -NX_Q9NYV6 74107 651 5.4 16 Nucleolus;Nucleolus NA 0 PE1 -NX_Q9NYV7 33986 291 9.5 7 Cell membrane NA 7 PE1 -NX_Q9NYV8 36160 317 10.12 12 Membrane NA 7 PE1 -NX_Q9NYV9 35118 303 9.68 12 Membrane NA 7 PE1 -NX_Q9NYW0 35365 307 9.55 12 Membrane NA 7 PE1 -NX_Q9NYW1 35611 312 9.83 12 Membrane NA 7 PE1 -NX_Q9NYW2 35877 309 9.66 12 Membrane NA 7 PE1 -NX_Q9NYW3 36550 318 9.69 12 Membrane NA 7 PE1 -NX_Q9NYW4 34505 299 9.86 7 Membrane NA 7 PE1 -NX_Q9NYW5 33841 299 9.85 7 Cilium membrane;Membrane NA 7 PE1 -NX_Q9NYW6 35915 316 9.72 7 Membrane NA 7 PE2 -NX_Q9NYW7 34333 299 9.87 5 Membrane NA 7 PE1 -NX_Q9NYW8 82995 714 7.02 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NYX4 23434 217 6.43 10 Cell membrane;Cytoplasmic vesicle membrane NA 1 PE1 -NX_Q9NYY1 20072 176 8.92 1 Secreted NA 0 PE1 -NX_Q9NYY3 78237 685 8.52 5 Nucleoplasm;Mitochondrion;Centriole;Cytosol;Dendrite NA 0 PE1 -NX_Q9NYY8 81463 710 8.31 2 Mitochondrion nucleoid;Mitochondrion NA 0 PE1 -NX_Q9NYZ1 23576 205 8.62 17 Membrane NA 4 PE1 -NX_Q9NYZ2 37323 338 9.33 8 Cell membrane;Cytoplasm;Mitochondrion inner membrane NA 6 PE1 -NX_Q9NYZ3 76645 720 9.45 22 Cytoskeleton;Cell membrane;Centrosome NA 0 PE1 -NX_Q9NYZ4 54042 499 8.39 19 Membrane;Cytosol NA 1 PE1 -NX_Q9NZ01 36034 308 9.5 19 Endoplasmic reticulum;Endoplasmic reticulum membrane Mental retardation, autosomal recessive 14 3 PE1 -NX_Q9NZ08 107235 941 6.02 5 Cell membrane;Nucleoplasm;Cytosol;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9NZ09 55084 502 5.02 9 Cytoplasm;Cytosol;Cytosol;Endosome;Cell membrane NA 0 PE1 -NX_Q9NZ20 57167 509 9.35 22 Secreted;Cell membrane;Centriole NA 0 PE1 -NX_Q9NZ32 46307 417 7.06 14 Nucleolus;Cytoskeleton NA 0 PE1 -NX_Q9NZ38 21312 188 10.21 10 NA NA 0 PE2 -NX_Q9NZ42 12029 101 9.25 19 Endoplasmic reticulum membrane;Golgi stack membrane;Cell membrane;Membrane Acne inversa, familial, 2 1 PE1 -NX_Q9NZ43 29371 259 9.13 19 Endoplasmic reticulum;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9NZ45 12199 108 9.2 10 Cytoplasm;Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_Q9NZ52 78315 723 5.41 17 Golgi apparatus;trans-Golgi network membrane;Endosome membrane NA 0 PE1 -NX_Q9NZ53 65076 605 4.27 3 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 1 PE1 -NX_Q9NZ56 180106 1722 5.32 1 Cytoskeleton;Cell membrane;Nucleolus;Cytoplasmic vesicle membrane;Cell cortex;Cell membrane;Perinuclear region;Cytoskeleton;Cytosol Mental retardation, autosomal recessive 47 0 PE1 -NX_Q9NZ63 33688 289 6.33 9 Nucleoplasm NA 0 PE1 -NX_Q9NZ71 133683 1219 8.6 20 Nucleus;Nucleus Dyskeratosis congenita, autosomal recessive, 5;Dyskeratosis congenita, autosomal dominant, 4;Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 3 0 PE1 -NX_Q9NZ72 21017 180 6.99 20 Golgi apparatus;Growth cone;Axon NA 0 PE1 -NX_Q9NZ81 15385 148 9.75 12 Cell membrane;Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q9NZ94 93895 848 5.94 X Cell membrane;Synapse Autism, X-linked 1;Asperger syndrome, X-linked, 1 1 PE1 -NX_Q9NZA1 46503 410 4.71 6 Centrosome;Cytoskeleton;Cell membrane;Cell cortex;Nucleus speckle;Golgi apparatus;Membrane Deafness, autosomal recessive, 103 1 PE1 -NX_Q9NZB2 121888 1118 9.07 9 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9NZB8 70105 636 9.4 6 Cell membrane;Cytosol Molybdenum cofactor deficiency, complementation group A 0 PE1 -NX_Q9NZC2 25447 230 5.84 6 Cytoplasmic vesicle;Cell membrane;Secreted Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 PE1 -NX_Q9NZC3 37718 331 6.22 16 Cell membrane;Cytoplasmic vesicle membrane;Nucleolus;Cytoplasmic vesicle;Nucleus NA 2 PE1 -NX_Q9NZC4 34892 300 6.83 11 Golgi apparatus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NZC7 46677 414 6.71 16 Golgi apparatus;Nucleus;Cytosol;Mitochondrion;Cytoplasm;Golgi apparatus Spinocerebellar ataxia, autosomal recessive, 12;Epileptic encephalopathy, early infantile, 28;Esophageal cancer 0 PE1 -NX_Q9NZC9 105938 954 9.15 2 Nucleus;Nucleoplasm Schimke immuno-osseous dysplasia 0 PE1 -NX_Q9NZD1 38791 345 4.87 12 Cell membrane NA 7 PE1 -NX_Q9NZD2 23850 209 6.91 12 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9NZD4 11840 102 4.9 16 Cytoplasm NA 0 PE1 -NX_Q9NZD8 34960 308 5.85 15 Cytosol;trans-Golgi network membrane;Endosome membrane;Cytosol;Membrane;Cytoplasmic vesicle Spastic paraplegia 21, autosomal recessive 0 PE1 -NX_Q9NZE8 21514 188 11.29 2 Mitochondrion NA 0 PE1 -NX_Q9NZF1 12507 115 7.87 4 Cytosol NA 0 PE1 -NX_Q9NZG7 15680 142 9.52 12 Membrane NA 2 PE1 -NX_Q9NZH0 44795 403 8.56 16 Cytoplasmic vesicle;Nucleus;Cell membrane;Nucleolus;Cytoplasmic vesicle membrane NA 7 PE1 -NX_Q9NZH4 22064 202 5.54 8 Cytoplasm;Nucleus NA 0 PE5 -NX_Q9NZH5 22302 202 5.98 4 Cytoplasm;Nucleus NA 0 PE2 -NX_Q9NZH6 24126 218 6.09 2 Cytosol;Nucleus;Secreted;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q9NZH7 18522 164 9.6 2 Secreted NA 0 PE1 -NX_Q9NZH8 18721 169 5.06 2 Secreted NA 0 PE1 -NX_Q9NZI2 26817 227 5.1 5 Cell membrane;Cytoplasm;Dendrite NA 0 PE1 -NX_Q9NZI5 70113 618 6.26 2 Cytoplasmic vesicle;Nucleus;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9NZI6 54627 479 6.53 2 Nucleus;Nucleolus NA 0 PE1 -NX_Q9NZI7 60491 540 5.92 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9NZI8 63481 577 9.26 17 Cytosol;Nucleus;Axon;Dendrite;Dendritic spine;Growth cone;Filopodium;Cytoplasm;Perinuclear region;Lamellipodium NA 0 PE1 -NX_Q9NZJ0 79468 730 9.11 1 Centrosome;Cytosol;Nucleus;Nucleus;Nucleus membrane;Chromosome NA 0 PE1 -NX_Q9NZJ4 521126 4579 6.63 13 Cytoplasm Spastic ataxia Charlevoix-Saguenay type 0 PE1 -NX_Q9NZJ5 125216 1116 5.27 2 Endoplasmic reticulum membrane Wolcott-Rallison syndrome 1 PE1 -NX_Q9NZJ6 41054 369 7.1 6 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_Q9NZJ7 41544 389 9.4 6 Mitochondrion inner membrane NA 2 PE1 -NX_Q9NZJ9 20306 180 5.99 12 Cytoplasm NA 0 PE1 -NX_Q9NZK5 58934 511 7.75 22 Secreted Sneddon syndrome;Polyarteritis nodosa 0 PE1 -NX_Q9NZK7 15989 142 8.61 1 Secreted NA 0 PE1 -NX_Q9NZL3 82280 707 9.01 19 Nucleus membrane;Nucleus;Nucleus NA 0 PE1 -NX_Q9NZL4 39474 362 5.13 19 Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q9NZL6 86701 768 5.78 1 Nucleoplasm;Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q9NZL9 37552 334 6.9 5 Nucleus NA 0 PE1 -NX_Q9NZM1 234709 2061 5.84 10 Cell membrane;Nucleus membrane;Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Nucleus membrane;Cell membrane;Cell membrane NA 1 PE1 -NX_Q9NZM3 193461 1697 8.32 2 Cytoplasm;Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q9NZM4 158490 1560 6.17 19 Nucleoplasm NA 0 PE1 -NX_Q9NZM5 54389 478 10.32 19 Nucleolus;Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q9NZM6 73790 624 9 5 Cell membrane;Membrane;Cytosol NA 6 PE1 -NX_Q9NZN1 79969 696 5.87 X Cell membrane;Cytoplasm;Axon;Dendrite Mental retardation, X-linked 21 1 PE1 -NX_Q9NZN3 60887 535 6.12 2 Cell membrane;Recycling endosome membrane;Cilium membrane NA 0 PE1 -NX_Q9NZN4 61161 543 6.03 19 Cytosol;Endosome membrane;Caveola;Cell membrane NA 0 PE1 -NX_Q9NZN5 173232 1544 5.49 11 Cytoplasm;Membrane;Cytosol;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9NZN8 59738 540 7.23 12 Cytoplasm;Nucleus;Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q9NZN9 43903 384 5.63 17 Cytoplasm;Nucleus Leber congenital amaurosis 4 0 PE1 -NX_Q9NZP0 35531 311 8.75 12 Cell membrane NA 7 PE3 -NX_Q9NZP2 35178 312 8.96 12 Cell membrane NA 7 PE3 -NX_Q9NZP5 35304 309 9.13 3 Cell membrane NA 7 PE3 -NX_Q9NZP6 120954 1156 8.94 15 Nucleus inner membrane;Nucleoplasm NA 0 PE1 -NX_Q9NZP8 53498 487 6.75 12 Cytosol;Cytoskeleton;Secreted NA 0 PE1 -NX_Q9NZQ0 30855 273 8.71 2 Cytosol;Nucleus NA 0 PE1 -NX_Q9NZQ3 78960 722 5.94 3 Cell membrane;Cytosol;Nucleus NA 0 PE1 -NX_Q9NZQ7 33275 290 6.76 9 Cytosol;Cell membrane;Endomembrane system NA 1 PE1 -NX_Q9NZQ8 131451 1165 6.32 11 Cell membrane NA 6 PE2 -NX_Q9NZQ9 39335 345 4.69 1 Cytoskeleton NA 0 PE1 -NX_Q9NZR1 39595 351 5.21 15 Cytoskeleton;Nucleus;Nucleolus NA 0 PE1 -NX_Q9NZR2 515498 4599 5.09 2 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q9NZR4 38431 365 8.99 20 Nucleus Craniofacial anomalies and anterior segment dysgenesis syndrome;Keratoconus 1 0 PE1 -NX_Q9NZS2 26666 232 8.84 12 Membrane NA 1 PE1 -NX_Q9NZS9 52738 450 6.11 16 Endoplasmic reticulum membrane NA 4 PE1 -NX_Q9NZT1 15893 146 4.34 10 Cytosol;Cell membrane NA 0 PE1 -NX_Q9NZT2 73325 677 4.77 20 Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9NZU0 73004 649 7.55 20 Cytoskeleton;Cell membrane;Endoplasmic reticulum membrane;Focal adhesion;Secreted;Axon;Cytosol;Cell membrane Hypogonadotropic hypogonadism 21 with or without anosmia 1 PE1 -NX_Q9NZU1 71358 646 5.95 11 Cell membrane;Endoplasmic reticulum membrane;Focal adhesion;Secreted;Cell projection;Cell junction;Cytoplasmic vesicle membrane;Perinuclear region NA 1 PE1 -NX_Q9NZU5 40833 365 8.27 3 Cell membrane;Nucleus;Cytoplasm;Cell junction;Cytosol;Nucleus NA 0 PE1 -NX_Q9NZU7 39838 370 8.65 12 Cell membrane;Golgi apparatus;Cytoskeleton;Perinuclear region;Cell membrane;Cell cortex;Postsynaptic density NA 0 PE1 -NX_Q9NZV1 113738 1036 5.08 2 Secreted;Cell membrane NA 1 PE1 -NX_Q9NZV5 65813 590 5.32 1 Cytosol;Endoplasmic reticulum membrane Rigid spine muscular dystrophy 1;Myopathy, congenital, with fiber-type disproportion 0 PE1 -NX_Q9NZV6 12760 116 8.64 16 Cytoplasm;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q9NZV7 61164 527 6.3 19 Nucleus speckle;Cytosol;Nucleus NA 0 PE1 -NX_Q9NZV8 70537 630 8.24 7 Synapse;Cell membrane;Dendrite;Perikaryon;Postsynaptic cell membrane;Dendritic spine;Cell junction NA 6 PE1 -NX_Q9NZW4 131151 1301 3.58 4 Extracellular matrix Dentin dysplasia 2;Dentinogenesis imperfecta, Shields type 3;Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1;Dentinogenesis imperfecta, Shields type 2 0 PE1 -NX_Q9NZW5 61117 540 5.82 7 Membrane NA 0 PE1 -NX_Q9NZY2 14626 134 6.88 14 NA NA 0 PE5 -NX_Q9NZZ3 24571 219 4.68 9 Midbody;Cytosol;Cytosol;Endosome membrane;Cytoskeleton NA 0 PE1 -NX_Q9P000 21819 198 5.6 11 Cytosol;Golgi apparatus;Nucleus;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q9P003 16093 139 6.16 1 Endoplasmic reticulum;Membrane;Endoplasmic reticulum;Endoplasmic reticulum-Golgi intermediate compartment NA 3 PE1 -NX_Q9P013 26624 229 5.55 11 Nucleus speckle;Mitochondrion;Nucleus NA 0 PE1 -NX_Q9P015 33420 296 10.02 8 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9P016 25697 225 9.3 11 Cytosol;Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q9P021 11216 101 9.57 2 Cytoplasm;Synapse;Dendritic spine;Nucleolus;Nucleus Short stature with microcephaly and distinctive facies 0 PE1 -NX_Q9P031 28670 241 9.89 12 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9P032 20266 175 8.85 6 Membrane;Mitochondrion;Mitochondrion Mitochondrial complex I deficiency 0 PE1 -NX_Q9P035 43160 362 9.04 15 Cell membrane;Endoplasmic reticulum;Cytoplasm;Endoplasmic reticulum;Nucleus membrane;Cytosol;Endoplasmic reticulum membrane;Mitochondrion NA 6 PE1 -NX_Q9P055 36751 326 8.18 14 Endoplasmic reticulum;Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum membrane NA 7 PE1 -NX_Q9P086 13129 117 5.71 17 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q9P0B6 11459 97 9.52 6 Cytosol;Membrane NA 1 PE1 -NX_Q9P0G3 29122 267 9.47 19 Extracellular space NA 0 PE1 -NX_Q9P0I2 29952 261 6.33 3 Cytoskeleton;Cytosol;Membrane NA 2 PE1 -NX_Q9P0J0 16698 144 8.02 19 Mitochondrion;Mitochondrion inner membrane;Nucleus Hurthle cell thyroid carcinoma 1 PE1 -NX_Q9P0J1 61054 537 6.2 8 Cytosol;Mitochondrion matrix;Mitochondrion;Nucleoplasm Pyruvate dehydrogenase phosphatase deficiency 0 PE1 -NX_Q9P0J6 11784 103 11.27 5 Nucleus;Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9P0J7 41945 381 5.41 2 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9P0K1 100433 906 6.91 7 Cell junction;Membrane;Axon NA 1 PE1 -NX_Q9P0K7 110041 980 5.87 5 Cytosol;Cell cortex;Cell junction;Nucleus;Cytoskeleton;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9P0K8 62395 574 6.2 12 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q9P0K9 37270 344 7.55 9 Cell membrane;Synapse Epileptic encephalopathy, early infantile, 37 1 PE1 -NX_Q9P0L0 27893 249 8.8 18 Endoplasmic reticulum;Cell membrane;Endoplasmic reticulum membrane;Nucleus membrane;Tight junction;Cell membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q9P0L1 85033 754 7.26 3 Nucleus NA 0 PE1 -NX_Q9P0L2 89003 795 9.42 1 Cell membrane;Cytoskeleton NA 0 PE1 -NX_Q9P0L9 91982 805 5.34 10 Cilium membrane;Cell membrane;Endoplasmic reticulum NA 6 PE1 -NX_Q9P0M2 39518 348 5.85 6 Nucleus;Cytoplasm NA 0 PE1 -NX_Q9P0M4 21765 197 8.44 16 Secreted NA 0 PE1 -NX_Q9P0M6 40058 372 9.71 10 Nucleoplasm;Chromosome;Nucleus NA 0 PE1 -NX_Q9P0M9 16073 148 10.42 17 Mitochondrion NA 0 PE1 -NX_Q9P0N5 16487 145 9.39 11 Cilium basal body;Membrane Joubert syndrome 2;Meckel syndrome 2 4 PE1 -NX_Q9P0N8 26995 246 7.46 19 Cytosol;Endosome membrane;Lysosome membrane;Endoplasmic reticulum membrane NA 2 PE1 -NX_Q9P0N9 33972 293 8.08 6 Cytoplasmic vesicle Macrocephaly/megalencephaly syndrome, autosomal recessive 0 PE1 -NX_Q9P0P0 17909 153 4.93 2 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9P0P8 27941 240 9.31 6 NA NA 0 PE1 -NX_Q9P0R6 15648 139 4.36 14 Golgi apparatus;Cytoplasm;Nucleus;Nucleolus;Cytoplasmic vesicle NA 0 PE1 -NX_Q9P0S2 12293 106 9.49 14 Cytoplasm;Cell membrane;Mitochondrion;Mitochondrion membrane NA 1 PE1 -NX_Q9P0S3 17371 153 9.64 2 Endoplasmic reticulum;Endoplasmic reticulum membrane NA 2 PE1 -NX_Q9P0S9 11565 112 9.87 6 Mitochondrion membrane NA 4 PE1 -NX_Q9P0T4 22010 197 9.16 19 Nucleus NA 0 PE1 -NX_Q9P0T7 20574 183 6.21 1 Endoplasmic reticulum;Late endosome membrane;Lysosome membrane NA 1 PE1 -NX_Q9P0U1 6248 55 10.28 7 Cytoplasm;Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_Q9P0U3 73481 644 8.69 12 Nucleus;Focal adhesion;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9P0U4 75712 656 8.61 18 Nucleus;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9P0V3 107496 963 7.77 2 Clathrin-coated vesicle;Nucleus;Clathrin-coated pit NA 0 PE1 -NX_Q9P0V8 31670 285 5.8 1 Membrane NA 1 PE1 -NX_Q9P0V9 52593 454 6.35 2 Cytoplasm;Cell membrane;Cytoplasm;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q9P0W0 25218 207 8.66 9 Secreted NA 0 PE1 -NX_Q9P0W2 35813 317 9.38 19 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q9P0W8 67719 599 5.9 14 Cytoskeleton;Cytosol;Cytoskeleton;Cilium basal body;Cilium axoneme;Mitochondrion;Nucleoplasm Leber congenital amaurosis 3;Retinitis pigmentosa autosomal recessive 0 PE1 -NX_Q9P0X4 245103 2223 6.09 22 Membrane NA 24 PE1 -NX_Q9P0Z9 44066 390 8.67 17 Peroxisome NA 0 PE1 -NX_Q9P104 35464 306 9.02 20 Focal adhesion NA 0 PE1 -NX_Q9P107 106683 970 5.5 19 Nucleoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_Q9P109 53052 453 8.48 5 Golgi apparatus membrane;Nucleoplasm;Golgi apparatus NA 1 PE1 -NX_Q9P121 37971 344 7.98 11 Cell membrane NA 0 PE1 -NX_Q9P126 26596 229 8.79 12 Membrane NA 1 PE1 -NX_Q9P127 35937 313 9.47 X Nucleus;Cytoplasm NA 0 PE1 -NX_Q9P1A2 45908 415 4.62 20 NA NA 0 PE5 -NX_Q9P1A6 117620 1054 6.42 8 Postsynaptic density;Synapse;Cell membrane NA 0 PE1 -NX_Q9P1C3 5407 46 10.93 14 Secreted NA 0 PE5 -NX_Q9P1D8 6607 64 11.3 16 NA NA 0 PE5 -NX_Q9P1F3 9056 81 5.86 6 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9P1G2 11378 102 8.77 8 NA NA 0 PE5 -NX_Q9P1J3 7343 65 6.54 14 NA NA 0 PE5 -NX_Q9P1P4 39065 343 8.7 6 Cell membrane NA 7 PE5 -NX_Q9P1P5 40134 351 8.91 6 Cell membrane NA 7 PE2 -NX_Q9P1Q0 110589 977 6.1 2 trans-Golgi network;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q9P1Q5 34565 309 8.96 17 Cell membrane NA 7 PE2 -NX_Q9P1T7 25788 246 5.09 7 Golgi apparatus;Nucleoplasm;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q9P1U0 13904 126 4.9 6 Nucleolus;Nucleolus NA 0 PE1 -NX_Q9P1U1 47608 418 5.61 7 Cell projection;Cytoskeleton NA 0 PE1 -NX_Q9P1V8 77151 674 4.43 14 Nucleus;Nucleolus;Nucleus membrane NA 0 PE1 -NX_Q9P1W3 93317 806 6.59 14 Membrane;Centrosome NA 10 PE1 -NX_Q9P1W8 42498 387 6.71 20 Membrane NA 1 PE1 -NX_Q9P1W9 34190 311 5.58 X Cytosol NA 0 PE1 -NX_Q9P1Y5 134750 1249 8.61 19 Nucleoplasm;Centrosome;Cytoskeleton;Adherens junction;Cytoplasm NA 0 PE1 -NX_Q9P1Y6 178666 1649 9.15 11 NA NA 0 PE1 -NX_Q9P1Z0 105114 1013 8.65 17 Nucleoplasm;Nucleus;Chromosome;Cytosol;Nucleus NA 0 PE1 -NX_Q9P1Z2 77336 691 4.77 12 Cytoplasm;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9P1Z3 86032 774 9.75 1 Cell membrane NA 6 PE1 -NX_Q9P1Z9 191100 1646 5.74 9 Membrane NA 1 PE1 -NX_Q9P202 96586 907 8.85 9 Cytoplasm;Stereocilium;Growth cone Deafness, autosomal recessive, 31;Usher syndrome 2D 0 PE1 -NX_Q9P203 126368 1132 6.51 14 Focal adhesion;Nucleus NA 0 PE1 -NX_Q9P206 107095 1035 9.75 1 Nucleoplasm;Cell membrane;Cell junction NA 0 PE1 -NX_Q9P209 71718 647 6.08 5 Centrosome;Centriolar satellite;Centrosome NA 0 PE1 -NX_Q9P212 258715 2302 6.07 10 Cytosol;Cell membrane;Cytosol;Golgi apparatus membrane Nephrotic syndrome 3 0 PE1 -NX_Q9P215 69444 609 5.06 1 Cytoplasmic vesicle;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9P217 130634 1185 6.78 1 Nucleus speckle NA 0 PE2 -NX_Q9P218 135830 1284 8.27 20 Extracellular space NA 0 PE1 -NX_Q9P219 228230 2028 5.87 14 Nucleolus;Cytoplasm;Nucleus Spinocerebellar ataxia 40;Hydrocephalus, non-syndromic, autosomal recessive 1 0 PE1 -NX_Q9P225 507698 4427 5.98 17 Cytoskeleton;Cilium axoneme NA 0 PE1 -NX_Q9P227 162192 1491 9.31 17 Cell membrane;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9P232 112883 1028 5.94 3 Cell membrane NA 0 PE1 -NX_Q9P241 160274 1426 6.78 4 Cell membrane;Nucleoplasm;Cell membrane;Endoplasmic reticulum membrane NA 10 PE1 -NX_Q9P242 70548 653 8.71 2 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q9P243 139034 1243 6.9 8 Nucleoplasm;Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_Q9P244 82318 771 6.62 19 Membrane;Synapse;Postsynaptic density NA 1 PE1 -NX_Q9P246 83971 746 6.3 4 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9P253 110186 973 5.72 15 Clathrin-coated vesicle;Late endosome membrane;Lysosome membrane;Early endosome;Autophagosome NA 0 PE1 -NX_Q9P255 61158 531 9.4 19 Nucleus NA 0 PE2 -NX_Q9P258 56085 522 9.02 1 Centromere;Spindle;Nucleolus NA 0 PE1 -NX_Q9P260 134630 1216 5.28 18 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9P265 171492 1576 8.43 12 Endoplasmic reticulum NA 0 PE1 -NX_Q9P266 148351 1359 6.65 10 Cytoplasmic vesicle;Cell junction;Adherens junction NA 0 PE1 -NX_Q9P267 159895 1494 9.17 2 Nucleus;Chromosome;Nucleus;Midbody Mental retardation, autosomal dominant 1 0 PE1 -NX_Q9P270 62543 581 9.48 4 Cytosol;Centrosome;Cytoskeleton NA 0 PE1 -NX_Q9P272 51299 454 6.2 8 Cytosol;Nucleus NA 0 PE2 -NX_Q9P273 300950 2699 5.99 4 Membrane;Axon;Nucleoplasm Microphthalmia, isolated, with coloboma, 9 1 PE1 -NX_Q9P275 122652 1121 9.71 17 Nucleolus;Nucleolus;Nucleus speckle NA 0 PE1 -NX_Q9P278 122115 1114 6.2 4 Cytoplasm NA 0 PE1 -NX_Q9P281 276932 2608 9.02 17 Nucleolus NA 0 PE1 -NX_Q9P283 125913 1151 7.99 3 Cytosol;Membrane NA 1 PE1 -NX_Q9P286 80745 719 8.19 20 Cytoplasm;Nucleus;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q9P287 35979 314 4.51 10 Nucleus;Cytosol;Nucleoplasm;Spindle pole;Centriole;Nucleus;Centrosome NA 0 PE1 -NX_Q9P289 46529 416 5.16 X Cytosol;Cytoplasm;Nucleus;Centrosome;Golgi apparatus;Golgi apparatus NA 0 PE1 -NX_Q9P291 49180 453 9.32 X Nucleus;Mitochondrion;Cytosol;Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_Q9P296 36080 337 8.17 19 Cell membrane NA 7 PE1 -NX_Q9P298 11058 99 9.55 17 Membrane NA 2 PE1 -NX_Q9P299 23548 210 5.08 17 Cytoplasm;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus membrane;COPI-coated vesicle membrane NA 0 PE1 -NX_Q9P2A4 39035 366 4.99 17 Cytoplasm;Cytoplasm NA 0 PE1 -NX_Q9P2B2 98556 879 6.16 1 Endoplasmic reticulum membrane;trans-Golgi network membrane NA 1 PE1 -NX_Q9P2B4 70158 639 8.22 1 Cytoskeleton;Nucleolus;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9P2B7 59475 532 9.12 4 Cytosol;Cell membrane;Nucleolus NA 0 PE1 -NX_Q9P2C4 69325 612 9.1 6 Membrane;Cytoplasmic vesicle;Golgi apparatus NA 9 PE1 -NX_Q9P2D0 150528 1353 7.79 6 Nucleus;Membrane;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9P2D1 335927 2997 5.95 8 Nucleus;Nucleolus;Nucleus CHARGE syndrome;Hypogonadotropic hypogonadism 5 with or without anosmia;Idiopathic scoliosis 3 0 PE1 -NX_Q9P2D3 224302 2071 6.77 2 Nucleolus;Cytosol;Nucleus NA 0 PE1 -NX_Q9P2D6 169840 1515 5.22 6 Cytoplasm;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9P2D7 493953 4330 5.65 3 Flagellum;Cilium axoneme Spermatogenic failure 18;Ciliary dyskinesia, primary, 37 0 PE1 -NX_Q9P2D8 295326 2635 5.9 14 Membrane NA 2 PE2 -NX_Q9P2E2 115068 1029 5.38 1 Cell membrane;Nucleoplasm;Cilium;Cytoskeleton NA 0 PE1 -NX_Q9P2E3 220227 1918 7.06 20 Mitochondrion NA 0 PE1 -NX_Q9P2E5 85948 772 7.94 7 Nucleoplasm;Golgi stack membrane;Cytosol NA 1 PE1 -NX_Q9P2E7 112936 1040 4.74 4 Golgi apparatus;Nucleus;Cell membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q9P2E8 45528 410 8.18 2 Golgi apparatus membrane NA 2 PE2 -NX_Q9P2E9 152472 1410 8.69 20 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q9P2F5 102671 926 8.67 4 Nucleoplasm;Cytoskeleton;Cytosol NA 0 PE1 -NX_Q9P2F6 132608 1191 8.26 11 Mitochondrion NA 0 PE1 -NX_Q9P2F8 190438 1722 6.31 1 Nucleus membrane;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9P2F9 65547 582 8.75 16 Nucleus;Nucleus NA 0 PE1 -NX_Q9P2G1 122002 1089 4.98 7 Cytosol;Cell membrane NA 0 PE1 -NX_Q9P2G3 70714 628 6.21 18 Cytoskeleton;Cytosol;Cytosol;Endoplasmic reticulum membrane NA 0 PE1 -NX_Q9P2G4 100345 905 6.77 1 Cytoskeleton;Spindle pole;Centrosome;Midbody NA 0 PE1 -NX_Q9P2G9 68802 620 6.12 4 Nucleoplasm NA 0 PE1 -NX_Q9P2H0 125870 1117 8.95 11 Cytosol;Midbody;Centrosome;Cilium basal body;Nucleoplasm NA 0 PE1 -NX_Q9P2H3 88035 777 7.59 3 Cilium basal body;Cilium axoneme;Cytoplasm Short-rib thoracic dysplasia 2 with or without polydactyly 0 PE1 -NX_Q9P2H5 113405 1018 5.42 11 Nucleus;Nucleolus NA 0 PE1 -NX_Q9P2I0 88487 782 4.98 14 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9P2J2 126580 1179 6.74 1 Synapse;Cell membrane NA 1 PE1 -NX_Q9P2J3 69429 617 5.92 9 NA NA 0 PE1 -NX_Q9P2J5 134466 1176 6.95 5 Cytoplasm;Nucleus;Cytosol Infantile liver failure syndrome 1 0 PE1 -NX_Q9P2J8 99929 865 9.13 17 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9P2J9 59978 529 5.69 16 Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_Q9P2K1 186185 1620 6.3 4 Cytoplasm;Cilium basal body Joubert syndrome 9;COACH syndrome;Meckel syndrome 6 0 PE1 -NX_Q9P2K2 93572 825 5.1 14 Secreted;Endoplasmic reticulum lumen;Mitochondrion NA 0 PE1 -NX_Q9P2K3 55581 495 8.26 1 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q9P2K5 64122 600 8.86 15 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9P2K6 56868 505 5.52 12 Spindle;Cytoplasm NA 0 PE1 -NX_Q9P2K8 186911 1649 5.88 15 Cytosol;Cytoplasm Pulmonary venoocclusive disease 2, autosomal recessive 0 PE1 -NX_Q9P2K9 153048 1392 7.5 1 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Nucleus membrane;Cytoplasmic vesicle membrane;Membrane NA 12 PE2 -NX_Q9P2L0 133547 1181 5.98 2 Centrosome;Cilium axoneme;Cilium basal body Cranioectodermal dysplasia 2;Short-rib thoracic dysplasia 7 with or without polydactyly 0 PE1 -NX_Q9P2M1 39780 347 7.99 4 Cytoplasm NA 0 PE1 -NX_Q9P2M4 78137 693 6.57 4 Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus;cis-Golgi network;trans-Golgi network NA 0 PE1 -NX_Q9P2M7 136386 1197 5.46 1 Cell membrane;Tight junction;Cell junction NA 0 PE1 -NX_Q9P2N2 82060 729 7.62 18 Cell junction NA 0 PE1 -NX_Q9P2N4 216491 1935 8.13 3 Cytoplasmic vesicle;Endoplasmic reticulum;Endoplasmic reticulum;Extracellular matrix NA 0 PE1 -NX_Q9P2N5 118718 1060 9.24 5 Cytoplasm;Cytoplasm;Nucleus speckle;Nucleus speckle NA 0 PE1 -NX_Q9P2N6 95992 904 9.46 2 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_Q9P2N7 73868 655 6.17 X NA NA 0 PE1 -NX_Q9P2P1 208366 1898 8.27 14 Nucleoplasm;Golgi apparatus;Cytoplasmic vesicle;Membrane NA 2 PE1 -NX_Q9P2P5 175769 1572 5.26 2 Nucleolus;Cytoplasm;Spindle;Endoplasmic reticulum Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 PE1 -NX_Q9P2P6 516343 4700 5.91 15 Centriole;Cytosol;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q9P2Q2 115458 1039 8.98 10 Cytoskeleton;Adherens junction;Golgi apparatus;Nucleus;Tight junction Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia 0 PE1 -NX_Q9P2R3 128399 1169 5.7 17 Endosome membrane;Endosome;Cytoplasm;Early endosome NA 0 PE1 -NX_Q9P2R6 172424 1566 7.44 1 Nucleus Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 PE1 -NX_Q9P2R7 50317 463 7.05 13 Mitochondrion;Mitochondrion Mitochondrial DNA depletion syndrome 5 0 PE1 -NX_Q9P2S2 184982 1712 5.61 11 Nucleus;Cytosol;Membrane;Nucleus membrane NA 1 PE1 -NX_Q9P2S5 51588 460 6.37 1 Cytoplasm;Centrosome;Centriole;Centriolar satellite;Nucleoplasm;Cell junction NA 0 PE1 -NX_Q9P2S6 105516 941 6.28 2 Cytoplasm;Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q9P2T0 43444 379 9.17 19 Nucleus NA 0 PE1 -NX_Q9P2T1 37874 348 6.8 14 Nucleolus;Nucleoplasm NA 0 PE1 -NX_Q9P2U7 61613 560 7.2 19 Synaptic vesicle membrane;Membrane;Synaptosome NA 12 PE1 -NX_Q9P2U8 64392 582 6.62 11 Synaptic vesicle membrane;Membrane;Synaptosome NA 12 PE1 -NX_Q9P2V4 68041 623 8.9 10 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9P2W1 24906 217 7.62 17 Nucleoplasm;Nucleus Ovarian dysgenesis 3 0 PE1 -NX_Q9P2W3 7949 67 5.05 16 Cell membrane NA 0 PE1 -NX_Q9P2W6 14447 132 9.55 11 Cytoplasm NA 0 PE2 -NX_Q9P2W7 38256 334 9.64 11 Golgi apparatus membrane;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Secreted NA 1 PE1 -NX_Q9P2W9 38674 335 5.36 4 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane NA 1 PE1 -NX_Q9P2X0 10094 92 5.66 1 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1O 2 PE1 -NX_Q9P2X3 36476 320 4.86 18 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9P2X7 7542 70 7.93 9 NA NA 0 PE2 -NX_Q9P2X8 7854 69 7.77 9 NA NA 0 PE5 -NX_Q9P2Y4 76877 722 9.56 14 Nucleus;Nucleus NA 0 PE1 -NX_Q9P2Y5 78151 699 8.56 11 Late endosome;Lysosome;Early endosome;Endoplasmic reticulum;Centromere;Midbody NA 0 PE1 -NX_Q9P2Z0 28351 257 8.95 15 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9QC07 91948 812 9.21 1 NA NA 0 PE3 -NX_Q9TNN7 40912 366 7.11 6 Membrane NA 1 PE1 -NX_Q9TQE0 29826 266 7.67 6 Lysosome membrane;Late endosome membrane;Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane NA 1 PE1 -NX_Q9UBA6 8344 75 5.78 6 NA NA 0 PE2 -NX_Q9UBB4 53489 475 5.12 22 Cytoplasm;Cytosol;Cell membrane;Perinuclear region Spinocerebellar ataxia 10 0 PE1 -NX_Q9UBB5 43255 411 10.06 18 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UBB6 78864 729 5.34 1 Cytosol;Dendrite;Cytosol NA 0 PE1 -NX_Q9UBB9 96820 837 5.45 22 Nucleus;Cytoplasm;Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UBC0 51023 465 9.71 15 Nucleus NA 0 PE1 -NX_Q9UBC1 43204 381 6.86 6 Nucleus Rheumatoid arthritis 0 PE1 -NX_Q9UBC2 94255 864 4.93 19 Cell membrane;Nucleus;Coated pit;Cytoplasmic vesicle NA 0 PE1 -NX_Q9UBC3 95751 853 8.74 20 Nucleus;Nucleoplasm;Cytoplasmic vesicle Facioscapulohumeral muscular dystrophy 2;Immunodeficiency-centromeric instability-facial anomalies syndrome 1 0 PE1 -NX_Q9UBC5 118401 1043 9.37 12 NA NA 0 PE1 -NX_Q9UBC7 12545 116 5.86 19 Secreted NA 0 PE2 -NX_Q9UBC9 18154 169 8.86 1 Cytoplasm NA 0 PE1 -NX_Q9UBD0 46742 423 6.63 X Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9UBD3 12567 114 10.62 1 Secreted NA 0 PE1 -NX_Q9UBD5 82254 711 7.54 6 Nucleus;Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UBD6 53179 479 5.93 15 Apical cell membrane NA 12 PE1 -NX_Q9UBD9 25176 225 8.68 11 Nucleus;Secreted;Cytoplasmic vesicle Cold-induced sweating syndrome 2 0 PE1 -NX_Q9UBE0 38450 346 5.17 19 Nucleus;Nucleus NA 0 PE1 -NX_Q9UBE8 58283 527 8.35 17 Nucleus;Cytoplasm;Nucleus;Cell junction;Nucleolus NA 0 PE1 -NX_Q9UBF1 41163 373 4.26 X Cytoplasm;Cytosol;Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q9UBF2 97622 871 5.56 7 COPI-coated vesicle membrane;Cytosol;Golgi apparatus membrane NA 0 PE1 -NX_Q9UBF6 12683 113 5.24 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UBF8 91379 816 5.86 1 Perinuclear region;Golgi apparatus;Golgi apparatus;Rough endoplasmic reticulum membrane;Endomembrane system;Mitochondrion outer membrane;Golgi apparatus membrane NA 0 PE1 -NX_Q9UBF9 55395 498 9.18 5 Sarcolemma;Cytoskeleton;Z line Myopathy, myofibrillar, 3;Spheroid body myopathy;Limb-girdle muscular dystrophy 1A 0 PE1 -NX_Q9UBG0 166674 1479 5.54 17 Membrane NA 1 PE1 -NX_Q9UBG3 53533 495 5.73 1 Cytoplasm NA 0 PE1 -NX_Q9UBG7 56751 517 7.86 20 Nucleus NA 0 PE2 -NX_Q9UBH0 16962 155 5.12 2 Secreted Psoriasis 14, pustular 0 PE1 -NX_Q9UBH6 81535 696 8.68 1 Endoplasmic reticulum;Golgi apparatus;Cell membrane Basal ganglia calcification, idiopathic, 6 8 PE1 -NX_Q9UBI1 22151 195 5.62 10 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UBI4 42968 398 8.18 15 Cytoplasmic vesicle;Membrane;Cytosol;Late endosome membrane;Membrane raft;Cell membrane NA 1 PE1 -NX_Q9UBI6 8006 72 9.14 1 Mitochondrion;Cell membrane NA 0 PE1 -NX_Q9UBI9 58837 543 8.89 6 NA NA 0 PE1 -NX_Q9UBJ2 83233 740 9.04 12 Peroxisome membrane NA 4 PE1 -NX_Q9UBK2 91027 798 5.71 4 Nucleoplasm;Cytoplasm;Nucleus;PML body NA 0 PE1 -NX_Q9UBK5 9489 93 8.63 19 Cell membrane;Cytoplasm;Membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q9UBK7 26115 228 4.75 2 NA NA 0 PE1 -NX_Q9UBK8 80410 725 6.05 5 Cytoskeleton;Nucleoplasm;Cytosol;Cytoplasm Homocystinuria-megaloblastic anemia, cblE complementation type;Neural tube defects, folate-sensitive 0 PE1 -NX_Q9UBK9 18246 157 7.02 X Spindle pole;Nucleus;Nucleus;Microtubule organizing center;Cytosol;Cytoplasm;Centrosome NA 0 PE1 -NX_Q9UBL0 89196 812 6.51 3 Cytosol;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q9UBL3 68723 628 5.45 8 Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9UBL6 70294 633 5.97 16 Cell membrane;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UBL9 51754 471 8.4 12 Cell membrane Deafness, autosomal dominant, 41 2 PE1 -NX_Q9UBM1 22134 199 8.89 17 Mitochondrion membrane;Endoplasmic reticulum membrane;Cytosol NA 3 PE1 -NX_Q9UBM4 37261 332 5.39 1 Extracellular matrix NA 0 PE1 -NX_Q9UBM7 54489 475 8.95 11 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cytosol Smith-Lemli-Opitz syndrome 7 PE1 -NX_Q9UBM8 56061 478 8.28 12 Golgi apparatus membrane NA 1 PE2 -NX_Q9UBN1 36579 327 9.23 17 Cytosol;Cell membrane NA 4 PE1 -NX_Q9UBN4 112101 977 7.81 13 Membrane;Cell membrane NA 6 PE1 -NX_Q9UBN6 41823 386 6.19 8 Cytoskeleton;Cell membrane;Membrane NA 1 PE1 -NX_Q9UBN7 131419 1215 5.14 X Cytoplasm;Perikaryon;Dendrite;Nucleoplasm;Nucleus;Axon Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 0 PE1 -NX_Q9UBP0 67197 616 9.67 2 Nucleoplasm;Cytosol;Endosome;Lipid droplet;Endoplasmic reticulum;Membrane;Midbody;Centrosome;Cytoskeleton;Perinuclear region;Nucleus;Spindle;Cytoplasm;Endoplasmic reticulum membrane;Nucleus membrane Spastic paraplegia 4, autosomal dominant 0 PE1 -NX_Q9UBP4 38390 350 4.59 11 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q9UBP5 35808 337 8.31 6 Nucleus;Nucleus NA 0 PE1 -NX_Q9UBP6 31471 276 7.19 12 Nucleus;Nucleus NA 0 PE1 -NX_Q9UBP8 8969 84 9.51 6 NA NA 0 PE2 -NX_Q9UBP9 34490 304 8.04 2 Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9UBQ0 20506 182 6.29 12 Endosome;Cytoplasm;Lysosome;Cytosol;Cytoplasmic vesicle;Early endosome;Late endosome;Cytoplasm;Membrane;Endosome membrane NA 0 PE1 -NX_Q9UBQ5 25060 218 4.81 19 Nucleus;Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_Q9UBQ6 37466 330 9.08 1 Secreted;Nucleus;Cytosol;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9UBQ7 35668 328 7.01 9 Cytosol;Nucleoplasm Hyperoxaluria primary 2 0 PE1 -NX_Q9UBR1 43166 384 6.09 22 Cytoplasm Beta-ureidopropionase deficiency 0 PE1 -NX_Q9UBR2 33868 303 6.7 20 Endoplasmic reticulum;Lysosome;Cytoplasmic vesicle NA 0 PE1 -NX_Q9UBR4 43358 397 8.47 9 Nucleus Pituitary hormone deficiency, combined, 3 0 PE1 -NX_Q9UBR5 17170 152 9.41 16 Secreted;Cytoplasmic vesicle;Membrane NA 3 PE1 -NX_Q9UBS0 53455 482 6.91 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UBS3 25518 223 8.37 7 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum;Endoplasmic reticulum lumen NA 0 PE1 -NX_Q9UBS4 40514 358 5.81 3 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 -NX_Q9UBS5 108320 961 8.49 6 Dendrite;Secreted;Centrosome;Postsynaptic cell membrane;Cell membrane NA 7 PE1 -NX_Q9UBS8 53837 474 4.66 5 Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9UBS9 139430 1254 4.93 1 Nucleolus;Cytosol;Rough endoplasmic reticulum membrane NA 1 PE1 -NX_Q9UBT2 71224 640 5.15 19 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9UBT3 24876 224 8.81 8 Secreted NA 0 PE1 -NX_Q9UBT6 98809 870 8.42 5 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UBT7 81896 734 6.22 9 Cell membrane;Cytoskeleton NA 0 PE1 -NX_Q9UBU2 28447 259 9.34 4 Secreted;Golgi apparatus NA 0 PE1 -NX_Q9UBU3 12911 117 5.35 3 Secreted NA 0 PE1 -NX_Q9UBU6 44123 413 6.76 6 Membrane;Golgi apparatus NA 3 PE1 -NX_Q9UBU7 76858 674 8.03 7 Nucleus;Nucleus NA 0 PE1 -NX_Q9UBU8 41474 362 9.29 15 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9UBU9 70182 619 8.74 11 Nucleoplasm;Nucleus speckle;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UBV2 88755 794 5.23 14 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9UBV4 40690 365 8.97 7 Extracellular matrix NA 0 PE1 -NX_Q9UBV7 37406 327 9.18 5 Golgi stack membrane Ehlers-Danlos syndrome with short stature and limb anomalies 1 PE1 -NX_Q9UBV8 30381 284 6.1 1 Cytoplasm;Endoplasmic reticulum;Membrane;COPII-coated vesicle membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q9UBW5 61874 565 5.11 12 Cytoplasm;Podosome membrane;Cell cortex;Phagocytic cup NA 0 PE1 -NX_Q9UBW7 154911 1377 5.95 13 Nucleus;Nucleoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q9UBW8 30277 275 8.33 12 Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UBX0 21409 185 9.01 3 Nucleus;Nucleus Pituitary hormone deficiency, combined, 5;Septooptic dysplasia;Growth hormone deficiency with pituitary anomalies 0 PE1 -NX_Q9UBX1 53366 484 8.52 11 Cytosol;Lysosome;Cytoplasmic vesicle;Cell membrane Ceroid lipofuscinosis, neuronal, 13 0 PE1 -NX_Q9UBX2 44940 424 8.72 4 Nucleus Facioscapulohumeral muscular dystrophy 1 0 PE1 -NX_Q9UBX3 31282 287 9.62 17 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA 6 PE1 -NX_Q9UBX5 50180 448 4.58 14 Cytosol;Secreted;Cell membrane;Extracellular matrix Macular degeneration, age-related, 3;Neuropathy, hereditary, with or without age-related macular degeneration;Cutis laxa, autosomal dominant, 2;Cutis laxa, autosomal recessive, 1A 0 PE1 -NX_Q9UBX7 31059 282 9.23 19 Secreted;Golgi apparatus NA 0 PE1 -NX_Q9UBX8 44914 382 8.59 18 Golgi stack membrane NA 1 PE1 -NX_Q9UBY0 91520 812 9.2 2 Cell junction;Membrane NA 10 PE1 -NX_Q9UBY5 40128 353 9.53 1 Cell membrane;Cell membrane NA 7 PE1 -NX_Q9UBY8 32787 286 8.47 8 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant;Ceroid lipofuscinosis, neuronal, 8 5 PE1 -NX_Q9UBY9 18611 170 6.04 1 Nucleoplasm;Cytoplasm;Nucleus;Cajal body NA 0 PE1 -NX_Q9UBZ4 57401 518 8.65 X Nucleolus;Cytoplasmic vesicle;Mitochondrion;Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9UBZ9 138248 1251 8.76 2 Nucleus;Cytosol NA 0 PE1 -NX_Q9UC06 50802 446 8.68 22 Nucleus;Cytosol NA 0 PE1 -NX_Q9UC07 65761 566 9.13 19 Nucleus NA 0 PE1 -NX_Q9UD57 32381 310 9.7 10 Nucleus NA 0 PE1 -NX_Q9UD71 22963 204 4.48 17 Cytoplasm NA 0 PE1 -NX_Q9UDR5 102132 926 6.18 7 Mitochondrion;Cytoplasmic vesicle;Mitochondrion Hyperlysinemia, 1;2,4-dienoyl-CoA reductase deficiency 0 PE1 -NX_Q9UDT6 115837 1046 6.29 7 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q9UDV6 55447 495 6.97 7 Nucleus;Nucleus NA 0 PE1 -NX_Q9UDV7 74295 671 5.62 7 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UDW1 7308 63 9.45 22 Mitochondrion inner membrane NA 0 PE1 -NX_Q9UDW3 19971 170 8.85 22 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UDX3 46644 406 6.16 22 Centrosome NA 0 PE1 -NX_Q9UDX4 46048 400 5.79 22 NA NA 0 PE1 -NX_Q9UDX5 18010 166 9.33 22 Mitochondrion inner membrane;Mitochondrion NA 3 PE1 -NX_Q9UDY2 133958 1190 6.96 9 Cytosol;Cell membrane;Cell junction;Adherens junction;Cell membrane;Tight junction;Nucleus Cholestasis, progressive familial intrahepatic, 4;Familial hypercholanemia 0 PE1 -NX_Q9UDY4 37807 337 8.65 1 Cytoplasm;Cytosol;Nucleoplasm;Cell membrane;Cell membrane NA 0 PE1 -NX_Q9UDY6 55037 481 5.69 6 Cytoplasm NA 0 PE1 -NX_Q9UDY8 92272 824 5.47 18 Cytosol;Perinuclear region;Nucleus;Nucleolus Immunodeficiency 12 0 PE1 -NX_Q9UEE5 46558 414 5.08 7 Nucleus;Nucleus speckle;Cell membrane NA 0 PE1 -NX_Q9UEE9 33593 299 4.77 16 Nucleoplasm;Kinetochore NA 0 PE1 -NX_Q9UEF7 116181 1012 8.06 13 Cell membrane;Apical cell membrane;Secreted;Secreted Tumoral calcinosis, hyperphosphatemic, familial 1 PE1 -NX_Q9UEG4 96620 869 8.24 16 Nucleus;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q9UER7 81373 740 4.8 6 Nucleus;Nucleoplasm;PML body;Nucleolus;Centromere;Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UET6 36079 329 5.42 X Cytoplasm;Cytosol Mental retardation, X-linked 44 0 PE1 -NX_Q9UEU0 26688 232 9.02 14 Lysosome membrane;Late endosome membrane;Early endosome membrane;Cytoplasmic vesicle;Recycling endosome membrane;Cytoplasmic granule;Golgi apparatus NA 1 PE1 -NX_Q9UEU5 12764 116 4.23 X NA NA 0 PE1 -NX_Q9UEW3 52658 520 8.95 2 Cytoplasmic vesicle;Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q9UEW8 59474 545 5.92 2 Nucleus;Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q9UEY8 79155 706 5.92 10 Cell membrane;Cell membrane;Cytoskeleton Cerebral palsy, spastic quadriplegic 3 0 PE1 -NX_Q9UF02 30903 275 6.94 17 Postsynaptic density;Membrane NA 4 PE2 -NX_Q9UF11 27186 243 7 11 Cytoplasm;Membrane NA 0 PE1 -NX_Q9UF12 58871 536 8.94 19 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9UF33 116379 1036 6.55 3 Membrane;Nucleoplasm NA 1 PE1 -NX_Q9UF47 22496 199 5.16 8 Membrane NA 0 PE1 -NX_Q9UF56 75695 701 8.49 5 Nucleus NA 0 PE1 -NX_Q9UF72 20603 201 5.93 1 Secreted NA 0 PE5 -NX_Q9UF83 59412 564 13.06 13 NA NA 0 PE1 -NX_Q9UFB7 82760 747 5.52 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UFC0 70861 647 6.88 7 Cytosol;Nucleus;Centromere;Telomere;Centrosome;Kinetochore;Nucleus NA 0 PE1 -NX_Q9UFD9 180717 1639 6.46 22 Cytoskeleton NA 0 PE1 -NX_Q9UFE4 109901 941 6.1 3 Mitochondrion;Cilium axoneme Ciliary dyskinesia, primary, 14 0 PE1 -NX_Q9UFF9 33540 292 4.69 5 Nucleus;Cytoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UFG5 12878 118 5.03 19 Cytoskeleton NA 0 PE1 -NX_Q9UFH2 511787 4485 5.56 17 Cilium axoneme NA 0 PE1 -NX_Q9UFN0 28467 247 9.21 9 Cytosol NA 0 PE1 -NX_Q9UFP1 63637 575 7.1 3 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q9UFV1 16280 150 9.33 17 NA NA 0 PE2 -NX_Q9UFV3 14889 132 10.08 15 NA NA 0 PE5 -NX_Q9UFW8 18820 167 9.14 3 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_Q9UG01 197576 1749 5.78 2 Cilium;Cytoplasmic vesicle Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71 0 PE1 -NX_Q9UG22 38017 337 8.6 7 Membrane;Cytoplasm;Lipid droplet NA 2 PE1 -NX_Q9UG56 46672 409 9.51 22 Mitochondrion inner membrane;Mitochondrion inner membrane;Cytosol;Golgi apparatus NA 1 PE1 -NX_Q9UG63 71290 623 6.95 7 Cytosol NA 0 PE1 -NX_Q9UGB4 5874 50 4.33 20 NA NA 0 PE4 -NX_Q9UGB7 33010 285 5.5 22 Cytoplasm NA 0 PE1 -NX_Q9UGC6 24359 210 5.56 6 Membrane;Synaptosome;Nucleus;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q9UGC7 43600 380 8.36 6 Mitochondrion NA 0 PE1 -NX_Q9UGF5 35892 321 8.9 6 Cell membrane NA 7 PE2 -NX_Q9UGF6 36057 321 8.79 6 Cell membrane NA 7 PE2 -NX_Q9UGF7 35791 316 8.86 6 Cell membrane NA 7 PE2 -NX_Q9UGH3 70337 650 7.83 20 Golgi apparatus;Cytoplasmic vesicle;Cell membrane NA 12 PE1 -NX_Q9UGI0 80967 708 5.48 10 Cytosol;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9UGI6 82026 736 9.12 1 Membrane;Nucleoplasm NA 6 PE1 -NX_Q9UGI8 47996 421 7.96 7 Focal adhesion;Cytoplasm;Cell membrane;Cell junction;Cytosol;Focal adhesion NA 0 PE1 -NX_Q9UGI9 54258 489 5.59 2 NA NA 0 PE1 -NX_Q9UGJ0 63066 569 9.37 7 Nucleoplasm Cardiomyopathy, familial hypertrophic 6;Wolff-Parkinson-White syndrome;Glycogen storage disease of heart lethal congenital 0 PE1 -NX_Q9UGJ1 76089 667 6.17 15 Centrosome;Centrosome Microcephaly and chorioretinopathy, autosomal recessive, 3 0 PE1 -NX_Q9UGK3 44894 403 8.34 19 Cytoplasm NA 0 PE1 -NX_Q9UGK8 48981 458 6.01 11 Nucleoplasm;Cytosol;Nucleus;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9UGL1 175658 1544 6.29 1 Nucleus;Nucleus NA 0 PE1 -NX_Q9UGL9 9736 99 9.13 1 NA NA 0 PE1 -NX_Q9UGM1 54807 479 6.04 4 Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_Q9UGM3 260735 2413 5.18 10 Secreted Glioma 0 PE1 -NX_Q9UGM5 42055 382 6.46 3 Secreted NA 0 PE1 -NX_Q9UGM6 40147 360 9.31 1 Mitochondrion;Mitochondrion matrix;Cell membrane NA 0 PE1 -NX_Q9UGN4 33201 299 5.35 17 Cell membrane NA 1 PE1 -NX_Q9UGN5 66206 583 9.02 14 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q9UGP4 72190 676 6.2 3 Focal adhesion;Cytoplasm;Nucleus;P-body;Adherens junction;Focal adhesion;Nucleus NA 0 PE1 -NX_Q9UGP5 63482 575 7.96 10 Nucleus;Golgi apparatus;Nucleus NA 0 PE1 -NX_Q9UGP8 87997 760 5.21 6 Endoplasmic reticulum;Endoplasmic reticulum membrane Polycystic liver disease 2 3 PE1 -NX_Q9UGQ2 18470 172 5.37 9 Membrane;Nucleoplasm NA 3 PE1 -NX_Q9UGQ3 54539 507 8.9 9 Cell membrane NA 12 PE1 -NX_Q9UGR2 111578 993 6.82 22 Cytosol;Nucleus NA 0 PE1 -NX_Q9UGT4 90208 822 5.84 22 Cell membrane;Cell membrane NA 1 PE1 -NX_Q9UGU0 211771 1960 9.16 22 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UGU5 65712 601 9.35 22 Nucleus;Nucleus NA 0 PE1 -NX_Q9UGV2 41409 375 5.12 20 NA NA 0 PE1 -NX_Q9UGY1 24663 213 10.22 22 Nucleus;Nucleolus;Cytoplasmic vesicle;Nucleolus NA 0 PE1 -NX_Q9UH03 40704 358 6.74 22 Cytoskeleton;Cytoskeleton;Nucleoplasm;Cytoplasm;Cytoskeleton;Synapse;Cell membrane NA 0 PE1 -NX_Q9UH17 45924 382 5.74 22 Nucleus NA 0 PE1 -NX_Q9UH36 38573 339 5.31 22 Cytosol NA 0 PE1 -NX_Q9UH62 42501 379 8.6 X Cytosol;Mitochondrion outer membrane;Nucleoplasm;Golgi apparatus;Cytoplasm;Nucleus NA 1 PE1 -NX_Q9UH64 8851 79 11.58 9 NA NA 0 PE4 -NX_Q9UH65 68998 585 5.66 11 Cytoplasm;Cell membrane;Cytoskeleton;Lamellipodium;Nucleus NA 0 PE1 -NX_Q9UH73 64464 591 9 5 Nucleus NA 0 PE1 -NX_Q9UH77 64970 587 5.29 5 Cytoskeleton;Cytosol Pseudohypoaldosteronism 2D 0 PE1 -NX_Q9UH90 79782 709 6.69 3 Cytoplasm NA 0 PE1 -NX_Q9UH92 33300 298 8.18 17 Cytoplasm;Nucleus membrane;Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9UH99 80311 717 6.27 22 Nucleus envelope;Nucleus inner membrane;Nucleus envelope;Nucleus membrane;Endosome membrane NA 1 PE1 -NX_Q9UHA2 8835 77 5.62 3 Mitochondrion;Nucleus;Nucleolus NA 0 PE1 -NX_Q9UHA3 19621 163 9.99 15 Nucleolus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UHA4 13623 124 6.72 4 Late endosome membrane NA 0 PE1 -NX_Q9UHA7 17684 158 5.89 2 Secreted NA 0 PE1 -NX_Q9UHB4 66763 597 5.95 9 Cytosol;Perinuclear region;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q9UHB6 85226 759 6.41 12 Cytoplasm;Cytoplasm;Cytosol;Cytoskeleton;Focal adhesion;Focal adhesion;Cytoskeleton;Cell membrane;Cytoskeleton NA 0 PE1 -NX_Q9UHB7 127459 1163 9.33 5 Nucleus;Nucleolus;Nucleus CHOPS syndrome 0 PE1 -NX_Q9UHB9 70730 627 8.75 17 Focal adhesion;Cytoplasm;Nucleolus;Cytosol NA 0 PE1 -NX_Q9UHC1 163711 1453 6.33 14 Nucleus;Nucleus Colorectal cancer;Hereditary non-polyposis colorectal cancer 7 0 PE1 -NX_Q9UHC3 58905 531 6.73 7 Cell membrane;Nucleoplasm;Cytosol;Cytoplasm NA 2 PE1 -NX_Q9UHC6 148167 1331 6.12 7 Axon;Membrane;Paranodal septate junction Cortical dysplasia-focal epilepsy syndrome;Autism 15 1 PE1 -NX_Q9UHC7 53349 482 5.05 7 NA NA 0 PE1 -NX_Q9UHC9 148728 1359 5.95 7 Apical cell membrane;Cell membrane;Cytoplasmic vesicle membrane NA 13 PE1 -NX_Q9UHD0 20452 177 7.62 1 Secreted NA 0 PE1 -NX_Q9UHD1 37490 332 8.1 11 Cytoplasm;Cytosol NA 0 PE1 -NX_Q9UHD2 83642 729 6.32 12 Nucleoplasm;Cytoplasm Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;Glaucoma 1, open angle, P 0 PE1 -NX_Q9UHD4 24678 219 9.01 14 NA NA 0 PE1 -NX_Q9UHD8 65401 586 9.06 17 Cytoskeleton;Cytoskeleton Hereditary neuralgic amyotrophy 0 PE1 -NX_Q9UHD9 65696 624 5.15 X Membrane;Cytosol;Cell membrane;Autophagosome;Cytoplasm;Nucleus Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia 0 PE1 -NX_Q9UHE5 25619 227 9.08 2 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9UHE8 39851 339 9.28 7 Endosome membrane NA 6 PE1 -NX_Q9UHF0 13438 121 6.74 12 Secreted Hypogonadotropic hypogonadism 10 with or without anosmia 0 PE1 -NX_Q9UHF1 29618 273 8.58 9 Extracellular space NA 0 PE1 -NX_Q9UHF3 25366 227 9.39 2 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE5 -NX_Q9UHF4 62485 553 4.78 6 Membrane;Cytosol NA 1 PE1 -NX_Q9UHF5 20437 180 9.46 5 Secreted NA 0 PE1 -NX_Q9UHF7 141521 1281 7.53 8 Nucleoplasm;Nucleus Tricho-rhino-phalangeal syndrome 1;Tricho-rhino-phalangeal syndrome 2;Tricho-rhino-phalangeal syndrome 3 0 PE1 -NX_Q9UHG0 52834 476 5.84 6 Cytosol;Cilium;Cilium axoneme;Cytoskeleton;Nucleus;Kinocilium Dyslexia 2;Deafness, autosomal recessive, 66;Sclerosing cholangitis, neonatal;Nephronophthisis 19 0 PE1 -NX_Q9UHG2 27372 260 6.22 X Secreted;trans-Golgi network;Cytoplasmic vesicle NA 0 PE1 -NX_Q9UHG3 56640 505 5.8 2 Lysosome NA 0 PE1 -NX_Q9UHH9 49186 426 6.37 3 Nucleus;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q9UHI5 58382 535 5.69 14 Cytoplasm;Basolateral cell membrane NA 12 PE1 -NX_Q9UHI6 92241 824 6.49 1 Gem;Cytoplasm;Nucleus;Nucleus;Cytosol NA 0 PE1 -NX_Q9UHI7 64831 598 6.16 5 Cell membrane NA 12 PE1 -NX_Q9UHI8 105358 967 6.4 21 Extracellular matrix;Cytosol NA 0 PE1 -NX_Q9UHJ3 98141 866 5.86 3 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UHJ6 51491 478 6.35 17 Nucleus speckle;Nucleoplasm;Cytoplasm Sedoheptulokinase deficiency 0 PE1 -NX_Q9UHJ9 29400 254 8.47 11 Cytoskeleton;Golgi apparatus membrane;Endoplasmic reticulum membrane Hyperphosphatasia with mental retardation syndrome 3 5 PE1 -NX_Q9UHK0 56300 495 9.21 13 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UHK6 42387 382 6.07 5 Cell membrane;Mitochondrion;Peroxisome;Cytoplasmic vesicle Congenital bile acid synthesis defect 4;Alpha-methylacyl-CoA racemase deficiency 0 PE1 -NX_Q9UHL0 54692 483 5.89 11 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UHL3 34712 310 4.68 5 NA NA 0 PE2 -NX_Q9UHL4 54341 492 5.91 9 Cytoplasmic vesicle;Golgi apparatus;Lysosome;Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q9UHL9 106057 959 6.45 7 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9UHM6 52635 478 9.35 10 Cell membrane NA 7 PE1 -NX_Q9UHN1 54911 485 8.64 17 Nucleus;Mitochondrion;Mitochondrion Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 0 PE1 -NX_Q9UHN6 154374 1383 8.41 9 Cytoplasmic vesicle;Cytosol;Cell membrane NA 1 PE1 -NX_Q9UHP3 122218 1055 5.22 21 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UHP6 38592 348 6.43 22 Nucleolus NA 0 PE1 -NX_Q9UHP7 21849 191 6.37 12 Nucleoplasm;Cell membrane;Golgi apparatus;Endoplasmic reticulum NA 1 PE1 -NX_Q9UHP9 9559 88 9.21 X NA Deafness, X-linked, 4 0 PE1 -NX_Q9UHQ1 51156 456 6.63 17 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q9UHQ4 28320 241 9.55 7 Endoplasmic reticulum membrane;Cytosol NA 3 PE1 -NX_Q9UHQ7 12749 104 5.35 X Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UHQ9 34095 305 9.41 1 Cytosol;Mitochondrion;Membrane;Nucleolus NA 1 PE1 -NX_Q9UHR4 56883 511 8.82 7 Cytoskeleton;Cell membrane;Cytosol NA 0 PE1 -NX_Q9UHR5 33870 308 4.74 17 Nucleus;Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UHR6 42884 403 5.69 11 NA NA 0 PE1 -NX_Q9UHT4 8314 67 10.1 7 NA NA 0 PE5 -NX_Q9UHU1 4899 43 8.16 11 NA NA 0 PE5 -NX_Q9UHV2 24704 236 4.29 19 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q9UHV5 73265 662 5.94 17 Cytoskeleton;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q9UHV7 239297 2174 5.4 17 Nucleus;Nucleus NA 0 PE1 -NX_Q9UHV8 16119 139 5.43 19 NA NA 0 PE1 -NX_Q9UHV9 16648 154 6.2 1 Cytoplasm;Nucleus;Cytoplasm;Mitochondrion;Cytosol NA 0 PE1 -NX_Q9UHW5 32761 284 4.38 12 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q9UHW9 127617 1150 6.64 15 Cytosol;Cytoplasmic vesicle;Basolateral cell membrane Agenesis of the corpus callosum, with peripheral neuropathy 12 PE1 -NX_Q9UHX1 59875 559 5.19 8 Nucleus;Cytoplasm;Nucleoplasm;Nucleus Verheij syndrome 0 PE1 -NX_Q9UHX3 90472 823 6.47 19 Cell membrane;Ruffle membrane;Cytoplasmic vesicle Vibratory urticaria 7 PE1 -NX_Q9UHY1 59845 535 5.02 2 Cell cortex;Endomembrane system;Lamellipodium;Cytosol NA 0 PE1 -NX_Q9UHY7 28933 261 4.66 4 Nucleus;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UHY8 39666 353 4.52 2 Cytosol;Nucleolus;Golgi apparatus NA 0 PE1 -NX_Q9UI08 44620 416 8.91 14 Cytoskeleton;Lamellipodium;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q9UI09 17114 145 9.63 12 Mitochondrion inner membrane;Mitochondrion Leigh syndrome 0 PE1 -NX_Q9UI10 57557 523 9.45 2 Cytoskeleton;Nucleus membrane Leukodystrophy with vanishing white matter 0 PE1 -NX_Q9UI12 55883 483 6.07 8 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9UI14 20648 185 6.83 19 Nucleolus;Cell membrane;Cytoplasm;Golgi apparatus;Synaptic vesicle;Nucleus membrane NA 4 PE1 -NX_Q9UI15 22473 199 6.84 3 NA NA 0 PE1 -NX_Q9UI17 96811 866 7.31 5 Mitochondrion;Mitochondrion DMGDH deficiency 0 PE1 -NX_Q9UI25 6971 63 6.23 16 NA NA 0 PE5 -NX_Q9UI26 112535 975 5.14 5 Cytoplasm;Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q9UI30 14199 125 5.21 11 Nucleus;Nucleoplasm;Perinuclear region;Cytoskeleton NA 0 PE1 -NX_Q9UI32 66323 602 6.9 12 Mitochondrion NA 0 PE1 -NX_Q9UI33 204922 1791 8.32 3 Cell membrane Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, 7 24 PE1 -NX_Q9UI36 78676 760 8.75 13 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9UI38 43088 385 8.58 3 Endoplasmic reticulum NA 0 PE1 -NX_Q9UI40 73664 661 5.71 9 Membrane NA 11 PE1 -NX_Q9UI42 47351 421 6.23 7 Secreted;Cytosol;Nucleoplasm;Centrosome NA 0 PE1 -NX_Q9UI43 27424 246 9.6 7 Mitochondrion NA 0 PE1 -NX_Q9UI46 79283 699 6.4 9 Cilium axoneme Ciliary dyskinesia, primary, 1;Kartagener syndrome 0 PE1 -NX_Q9UI47 99809 895 5.83 10 Cytoskeleton Arrhythmogenic right ventricular dysplasia, familial, 13 0 PE1 -NX_Q9UI54 6387 55 10.3 20 NA NA 0 PE5 -NX_Q9UI72 8249 69 9.35 5 NA NA 0 PE5 -NX_Q9UI95 24334 211 6.05 1 Nucleolus;Cytosol;Nucleus;Spindle;Cytoplasm Fanconi anemia, complementation group V 0 PE1 -NX_Q9UIA0 45672 394 6.08 22 Cell membrane NA 0 PE1 -NX_Q9UIA9 123907 1087 5.91 8 Nucleus;Cytoplasm;Nucleus;Nuclear pore complex NA 0 PE1 -NX_Q9UIB8 38782 345 6.61 1 Cell membrane NA 1 PE1 -NX_Q9UIC8 38379 334 5.73 16 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9UID3 86042 782 6.06 11 Nucleolus;Cytoplasmic vesicle;Golgi apparatus;trans-Golgi network;Recycling endosome NA 0 PE1 -NX_Q9UID6 56054 485 5.3 3 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UIE0 54542 474 8.75 19 Mitochondrion;Nucleus NA 0 PE1 -NX_Q9UIF3 49672 430 5.39 1 Microtubule organizing center;Flagellum axoneme;Cilium axoneme;Cytoskeleton NA 0 PE1 -NX_Q9UIF7 60069 546 8.99 1 Mitochondrion;Nucleus;Nucleus Familial adenomatous polyposis 2;Gastric cancer 0 PE1 -NX_Q9UIF8 240459 2168 6.13 2 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9UIF9 211198 1905 6.22 12 Nucleolus;Nucleus speckle NA 0 PE1 -NX_Q9UIG0 170903 1483 8.7 7 Nucleus;Nucleus NA 0 PE1 -NX_Q9UIG4 15101 136 4.48 6 Secreted NA 0 PE1 -NX_Q9UIG5 16580 152 5.93 6 Nucleus NA 0 PE2 -NX_Q9UIG8 76553 710 6.34 15 Cell membrane NA 12 PE1 -NX_Q9UIH9 43992 416 8.48 3 Nucleus NA 0 PE1 -NX_Q9UII2 12249 106 9.34 1 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9UII4 116852 1024 7.71 4 Perinuclear region NA 0 PE1 -NX_Q9UII5 90673 783 9.43 7 Nucleus NA 0 PE1 -NX_Q9UII6 22149 198 9.27 10 NA NA 0 PE1 -NX_Q9UIJ5 42022 367 8.7 8 Membrane NA 4 PE1 -NX_Q9UIJ7 25565 227 9.15 9 Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_Q9UIK4 42898 370 6.45 15 Cytoplasmic vesicle;Golgi apparatus;Cytoplasm;Autophagosome lumen NA 0 PE1 -NX_Q9UIK5 41428 374 5.01 2 Cytoskeleton;Cytoskeleton;Membrane;Secreted NA 1 PE1 -NX_Q9UIL1 18045 159 9 4 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus;trans-Golgi network;Cytosol NA 0 PE1 -NX_Q9UIL4 40686 384 8.61 6 Centrosome NA 0 PE2 -NX_Q9UIL8 37582 331 7.87 13 Nucleus;Nucleus membrane;Nucleoplasm NA 0 PE1 -NX_Q9UIM3 38176 349 5.38 6 Nucleoplasm NA 0 PE1 -NX_Q9UIQ6 117349 1025 5.5 5 Cell membrane;Secreted NA 1 PE1 -NX_Q9UIR0 50436 455 4.96 6 Membrane Sarcoidosis 2 1 PE2 -NX_Q9UIS9 66607 605 9.32 18 Nucleus;Nucleus;Nucleus matrix;Nucleus speckle;Chromosome NA 0 PE1 -NX_Q9UIU6 82933 781 5.45 14 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9UIV1 32745 285 4.77 8 P-body;Nucleus;Nucleus NA 0 PE1 -NX_Q9UIV8 44276 391 5.48 18 Nucleus speckle;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9UIW0 30874 290 9.56 2 Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9UIW2 211067 1896 6.49 3 Cytosol;Cell membrane;Nucleus NA 1 PE1 -NX_Q9UIX4 57913 513 5.94 20 Cytoplasmic vesicle;Cell membrane NA 6 PE1 -NX_Q9UIY3 33893 292 6.01 6 Cytoplasmic vesicle NA 0 PE1 -NX_Q9UJ04 45126 414 8.8 6 NA NA 0 PE1 -NX_Q9UJ14 70467 662 4.96 20 Nucleus;Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q9UJ37 41939 374 9.38 17 Golgi apparatus membrane NA 1 PE1 -NX_Q9UJ41 79371 708 6.42 7 Cytoplasm;Early endosome;Recycling endosome;Cytosol;Nucleolus NA 0 PE1 -NX_Q9UJ42 39787 338 8.84 3 Cell membrane;Cell membrane NA 7 PE2 -NX_Q9UJ55 132822 1249 9.55 15 Early endosome;Cytoplasm;Nucleus Schaaf-Yang syndrome 0 PE1 -NX_Q9UJ68 26132 235 8.22 8 Cell membrane;Cytosol;Mitochondrion;Nucleoplasm;Nucleus;Cytoplasm;Membrane NA 0 PE1 -NX_Q9UJ70 37376 344 5.82 2 Cytosol;Nucleus NA 0 PE1 -NX_Q9UJ71 36725 328 8.45 2 Membrane;Cytosol Birbeck granule deficiency 1 PE1 -NX_Q9UJ72 37278 324 5.13 4 Nucleolus;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q9UJ78 74817 669 8.5 13 Nucleus NA 0 PE1 -NX_Q9UJ83 63729 578 7.08 3 Cytoplasmic vesicle;Peroxisome NA 0 PE1 -NX_Q9UJ90 14993 142 5.9 X Cytosol;Membrane Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis 1 PE1 -NX_Q9UJ94 16537 153 6.04 21 NA NA 0 PE5 -NX_Q9UJ96 51240 466 9.33 18 Membrane NA 6 PE1 -NX_Q9UJ98 139034 1225 5.23 7 Nucleus;Centromere;Chromosome Premature ovarian failure 8 0 PE1 -NX_Q9UJ99 89091 828 4.62 20 Cell membrane NA 1 PE1 -NX_Q9UJA2 32593 301 9.73 20 Mitochondrion inner membrane NA 5 PE1 -NX_Q9UJA3 93697 840 7.82 20 Nucleus;Nucleus Premature ovarian failure 10 0 PE1 -NX_Q9UJA5 55799 497 7.18 20 Nucleus;Nucleus NA 0 PE1 -NX_Q9UJA9 54666 477 5.94 6 Secreted;Membrane NA 1 PE1 -NX_Q9UJC3 84648 728 5.09 1 Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q9UJC5 12326 107 6.3 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UJD0 32796 308 9.38 1 Nucleolus;Synapse;Mitochondrion NA 0 PE1 -NX_Q9UJF2 128558 1139 8.52 1 Focal adhesion;Cell membrane NA 0 PE1 -NX_Q9UJG1 24086 213 7.66 X Nucleoplasm;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus membrane NA 2 PE1 -NX_Q9UJH8 31207 293 8.47 16 Secreted;Nucleoplasm;Cytosol;Nucleus membrane NA 0 PE1 -NX_Q9UJJ7 34756 312 6.6 16 Golgi apparatus;Cell junction;Cytosol;Nucleus NA 0 PE1 -NX_Q9UJJ9 33974 305 6.47 16 Cytosol;Endoplasmic reticulum;Secreted;Golgi apparatus Mucolipidosis type III complementation group C 0 PE1 -NX_Q9UJK0 33596 312 6.48 16 Golgi apparatus;Cytosol NA 0 PE1 -NX_Q9UJL9 61481 534 9.23 1 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q9UJM3 50560 462 8.38 1 Cytoplasm;Cell membrane;Nucleus;Cytosol NA 0 PE1 -NX_Q9UJM8 40924 370 8.2 20 Peroxisome NA 0 PE1 -NX_Q9UJN7 40659 358 8.94 6 Nucleus NA 0 PE1 -NX_Q9UJP4 66617 597 5.17 1 Spindle;Centrosome NA 0 PE1 -NX_Q9UJQ1 31472 280 5.99 20 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endosome membrane;Cytoplasmic vesicle membrane;Dendrite;Growth cone membrane;Early endosome membrane;Recycling endosome;Cell membrane;Cytosol;Synaptic vesicle membrane NA 1 PE1 -NX_Q9UJQ4 112231 1053 7.2 20 Nucleoplasm;Cytoplasm;Nucleus Duane-radial ray syndrome;Oculootoradial syndrome 0 PE1 -NX_Q9UJQ7 17663 156 9.33 20 NA NA 0 PE2 -NX_Q9UJS0 74176 675 8.79 7 Mitochondrion inner membrane;Mitochondrion Cholestasis, neonatal intrahepatic, caused by citrin deficiency;Citrullinemia 2 6 PE1 -NX_Q9UJT0 52932 475 6.17 6 Centrosome NA 0 PE1 -NX_Q9UJT1 51034 453 6.35 17 Cytosol;Nucleoplasm;Centriole;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UJT2 65050 592 5.7 19 Centriole NA 0 PE1 -NX_Q9UJT9 54575 491 8.67 5 Centrosome NA 0 PE1 -NX_Q9UJU2 44201 399 6.9 4 Nucleoplasm;Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q9UJU3 105842 913 8.6 19 Nucleus;Centrosome NA 0 PE1 -NX_Q9UJU5 47630 478 6.01 1 Nucleus Autoimmune disease 1 0 PE1 -NX_Q9UJU6 48207 430 5.02 7 Cytosol;Cell projection;Cell membrane;Clathrin-coated vesicle membrane;Golgi apparatus membrane;Podosome;Early endosome;Synapse;Cytoskeleton;Lamellipodium;Ruffle;Cell cortex;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9UJV3 83210 735 7.24 X Cytoskeleton;Cytoplasm Mental retardation, X-linked 101 0 PE1 -NX_Q9UJV8 39556 347 9.57 8 Nucleus;Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_Q9UJV9 69838 622 6.4 5 Nucleus;Nucleus Myeloproliferative/lymphoproliferative neoplasms, familial 0 PE1 -NX_Q9UJW0 52337 460 7.1 5 Nucleus;Centrosome;Cytoskeleton;Centrosome NA 0 PE1 -NX_Q9UJW2 54605 476 8.31 6 Cytoplasmic vesicle;Basement membrane NA 0 PE1 -NX_Q9UJW3 43583 386 5.59 21 Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9UJW7 93707 825 8.88 19 Nucleus;Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q9UJW8 79111 692 8.04 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UJW9 21769 196 4.56 19 Nucleus;Nucleolus NA 0 PE1 -NX_Q9UJX0 60849 560 7.01 16 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9UJX2 68834 597 6.59 5 Nucleus;Cytoplasm NA 0 PE1 -NX_Q9UJX3 66855 599 5.45 12 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9UJX4 85077 755 6.4 12 Nucleoplasm NA 0 PE1 -NX_Q9UJX5 92116 808 5.36 4 Cytoskeleton NA 0 PE1 -NX_Q9UJX6 93828 822 5.12 9 Nucleoplasm NA 0 PE1 -NX_Q9UJY1 21604 196 5 12 Nucleus;Cytoplasm;Cytoplasm;Cytosol;Nucleus Charcot-Marie-Tooth disease 2L;Neuronopathy, distal hereditary motor, 2A 0 PE1 -NX_Q9UJY4 67150 613 6.13 16 trans-Golgi network membrane;Endosome membrane;Golgi apparatus NA 0 PE1 -NX_Q9UJY5 70384 639 5.18 22 Cytoplasmic vesicle;Nucleoplasm;trans-Golgi network membrane;Endosome membrane NA 0 PE1 -NX_Q9UJZ1 38534 356 6.87 9 Cytosol;Cytoskeleton;Cell membrane;Mitochondrion;Cell membrane;Mitochondrion inner membrane;Mitochondrion intermembrane space;Membrane raft NA 0 PE1 -NX_Q9UK00 17468 162 5.36 3 Membrane;Cytosol NA 1 PE2 -NX_Q9UK05 47320 429 6.03 10 Secreted Telangiectasia, hereditary hemorrhagic, 5 0 PE1 -NX_Q9UK08 7841 70 6.55 19 Cell membrane NA 0 PE1 -NX_Q9UK10 82471 706 9.18 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UK11 55763 482 9.04 19 Nucleus;Mitochondrion;Nucleus NA 0 PE1 -NX_Q9UK12 52484 451 8.96 19 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UK13 71170 617 8.8 19 Nucleus;Nucleus NA 0 PE1 -NX_Q9UK17 73451 655 8.56 1 Cell membrane;Sarcolemma;Dendrite Spinocerebellar ataxia 19;Brugada syndrome 9 6 PE1 -NX_Q9UK22 33328 296 4.29 1 Cytosol;Cytoplasm;Microsome membrane;Nucleoplasm NA 0 PE1 -NX_Q9UK23 56073 515 6.15 16 Golgi stack membrane;trans-Golgi network NA 1 PE1 -NX_Q9UK28 37619 342 6.11 19 Nucleoplasm;Golgi apparatus membrane;Cytoskeleton NA 1 PE1 -NX_Q9UK32 83872 745 5.92 X Nucleolus;Nucleus;Cytosol;Nucleus;Mitochondrion NA 0 PE1 -NX_Q9UK33 18756 172 10.13 19 Nucleus;Nucleus NA 0 PE1 -NX_Q9UK39 48196 431 6.85 4 Nucleoplasm;Cytoplasm;Nucleus;Perinuclear region;Cytosol;Nucleus NA 0 PE1 -NX_Q9UK41 25425 221 5.37 8 Cell membrane;Late endosome membrane NA 0 PE1 -NX_Q9UK45 11602 103 5.1 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q9UK53 46738 422 9.28 13 Cytosol;Nucleus;Nucleoplasm Squamous cell carcinoma of the head and neck 0 PE1 -NX_Q9UK55 50707 444 8.28 14 Cytosol;Nucleoplasm;Secreted NA 0 PE1 -NX_Q9UK58 59634 526 10.71 3 Nucleus;Nucleus speckle;Nucleoplasm;Nucleoplasm NA 0 PE1 -NX_Q9UK59 61555 544 5.25 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UK61 189032 1670 5.55 3 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q9UK73 70264 627 6.14 15 Cytosol;Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9UK76 16015 154 5.47 17 Nucleus;Nucleus membrane;Nucleolus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UK80 62656 565 9.91 1 Cytosol;Nucleoplasm;Cell membrane;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UK85 27007 242 8.1 19 Endoplasmic reticulum;Nucleus membrane;Secreted;Acrosome;Cytoplasmic vesicle NA 0 PE1 -NX_Q9UK96 105195 956 8.47 9 Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9UK97 52329 447 5.8 6 Cell membrane;Centrosome;Cytoplasm NA 0 PE1 -NX_Q9UK99 54561 471 4.88 11 Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9UKA1 78555 691 5.32 4 Perinuclear region NA 0 PE1 -NX_Q9UKA2 70097 621 6.1 6 Nucleus speckle;Mitochondrion;Nucleus;Cytoplasm Mitochondrial DNA depletion syndrome 13 0 PE1 -NX_Q9UKA4 210512 1901 5.23 13 Cell membrane;Cytoplasm;Nucleolus;Centrosome;Cytosol NA 0 PE1 -NX_Q9UKA8 27492 241 4.54 1 Nucleolus;Nucleus speckle NA 0 PE1 -NX_Q9UKA9 57491 531 8.72 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UKB1 62091 542 6.73 5 Nucleus;Nucleolus;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q9UKB3 23415 198 5.51 10 Cytosol;Nucleus;Cytoplasm Hyperphenylalaninemia, mild, non-BH4-deficient 0 PE1 -NX_Q9UKB5 44536 411 9.63 1 Basolateral cell membrane;Apical cell membrane;Adherens junction NA 1 PE1 -NX_Q9UKC9 47062 423 7.4 3 Cell membrane;Membrane;Nucleus;Nucleolus NA 0 PE1 -NX_Q9UKD1 56421 530 5.38 20 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9UKD2 27560 239 8.34 1 Nucleolus;Nucleus;Nucleus membrane;Nucleus;Nucleolus;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q9UKE5 154943 1360 6.7 3 Nucleoplasm;Cytosol;Nucleus;Cytoplasm;Recycling endosome;Cytoskeleton Mental retardation, autosomal recessive 54 0 PE1 -NX_Q9UKF2 88940 790 7.84 1 Late endosome membrane NA 1 PE1 -NX_Q9UKF5 92759 820 7.29 4 Membrane NA 1 PE1 -NX_Q9UKF6 77486 684 5.37 2 Nucleus NA 0 PE1 -NX_Q9UKF7 38388 332 5.99 17 Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9UKG1 79663 709 5.28 3 Spindle;Centrosome;Early endosome membrane;Nucleus Maturity-onset diabetes of the young 14 0 PE1 -NX_Q9UKG4 69358 626 7.16 7 Membrane NA 12 PE1 -NX_Q9UKG9 70178 612 6.63 7 Cytoplasmic vesicle;Peroxisome NA 0 PE1 -NX_Q9UKH3 79016 698 9.15 6 Cell membrane;Cell membrane;Virion NA 1 PE1 -NX_Q9UKI2 27678 254 5.49 2 Cytoskeleton;Cytosol;Endomembrane system;Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q9UKI3 13710 123 5.1 22 NA NA 0 PE1 -NX_Q9UKI8 86700 766 8.88 2 Nucleus;Nucleus NA 0 PE1 -NX_Q9UKI9 47432 436 8.66 11 Nucleus NA 0 PE2 -NX_Q9UKJ0 25542 227 10.39 7 Mitochondrion;Membrane NA 1 PE1 -NX_Q9UKJ1 34005 303 10.22 7 Cell membrane;Secreted NA 1 PE1 -NX_Q9UKJ3 164197 1502 8.81 17 Mitochondrion;Nucleus speckle NA 0 PE1 -NX_Q9UKJ5 19254 165 6.34 4 Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q9UKJ8 80834 722 6.22 14 Membrane NA 1 PE1 -NX_Q9UKK3 192595 1724 5.43 13 Cytosol;Cytoplasm;Nucleus;Spindle NA 0 PE1 -NX_Q9UKK6 15847 140 4.91 20 Nucleoplasm;Cytosol;Nucleus;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q9UKK9 24328 219 4.87 10 Nucleus;Cytoplasmic vesicle;Nucleus;Centrosome NA 0 PE1 -NX_Q9UKL0 53327 485 6.56 14 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UKL2 35322 312 8.89 11 Cell membrane NA 7 PE2 -NX_Q9UKL3 222658 1982 6.14 6 Cytoplasm;Mitochondrion;Nucleus;Nucleolus;PML body;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9UKL4 36093 321 8.95 15 Cell membrane;Gap junction NA 4 PE1 -NX_Q9UKL6 24843 214 5.62 17 Cytoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_Q9UKM7 79580 699 7.38 9 Cytoplasmic vesicle;Endoplasmic reticulum membrane Mental retardation, autosomal recessive 15 1 PE1 -NX_Q9UKM9 32463 306 9.2 20 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UKN1 558164 5478 5.31 7 Membrane NA 1 PE1 -NX_Q9UKN5 87920 801 5.93 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UKN7 395293 3530 9.26 17 Cytoskeleton;Stereocilium Deafness, autosomal recessive, 3 0 PE1 -NX_Q9UKN8 91982 822 6.21 9 Nucleus;Nucleus NA 0 PE1 -NX_Q9UKP3 38382 347 5.04 X Cytosol NA 0 PE1 -NX_Q9UKP4 184095 1686 5.81 15 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_Q9UKP5 125273 1117 6.24 5 Extracellular matrix NA 0 PE1 -NX_Q9UKP6 42130 389 10.68 17 Cell membrane NA 7 PE1 -NX_Q9UKQ2 87148 775 6.55 8 Cell membrane;Secreted;Mitochondrion;Cell membrane NA 1 PE1 -NX_Q9UKQ9 27513 250 7.1 19 Secreted NA 0 PE1 -NX_Q9UKR0 26734 248 7.57 19 Secreted NA 0 PE1 -NX_Q9UKR3 30570 277 8.78 19 Secreted NA 0 PE1 -NX_Q9UKR5 15864 140 9.86 14 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum membrane;Nucleoplasm NA 4 PE1 -NX_Q9UKR8 26266 245 8.61 19 Membrane NA 4 PE1 -NX_Q9UKS6 48487 424 5.83 11 Cytosol;Cell membrane;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9UKS7 59574 526 6.3 2 Nucleoplasm;Nucleus;Nucleus;Cytosol NA 0 PE1 -NX_Q9UKT4 50146 447 9.17 6 Spindle;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9UKT5 44136 387 5.77 5 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UKT6 49152 434 6.02 5 Cytosol;Nucleus NA 0 PE1 -NX_Q9UKT7 48707 428 6.41 13 Nucleus;Cytoplasm NA 0 PE1 -NX_Q9UKT8 51512 454 6.11 9 Nucleoplasm NA 0 PE1 -NX_Q9UKT9 58023 509 6.11 17 Nucleus;Cytoplasm;Cell membrane;Cytosol NA 0 PE1 -NX_Q9UKU0 77752 697 7.2 5 Peroxisome membrane;Mitochondrion outer membrane;Microsome membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9UKU6 117000 1024 6.51 12 Membrane NA 1 PE1 -NX_Q9UKU7 45070 415 8.12 11 Mitochondrion Isobutyryl-CoA dehydrogenase deficiency 0 PE1 -NX_Q9UKU9 57104 493 7.23 9 Secreted NA 0 PE1 -NX_Q9UKV0 111297 1011 6.4 7 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UKV3 151862 1341 6.08 14 Cytosol;Nucleus;Nucleus speckle;Nucleoplasm;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q9UKV5 72996 643 5.95 16 Golgi apparatus;Endoplasmic reticulum membrane;Endoplasmic reticulum NA 7 PE1 -NX_Q9UKV8 97208 859 9.32 8 Cell junction;P-body;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UKW4 97776 847 6.65 1 NA NA 0 PE1 -NX_Q9UKW6 31263 265 5.81 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UKX2 223044 1941 5.64 17 Cytoplasm;Myofibril Myopathy, proximal, and ophthalmoplegia 0 PE1 -NX_Q9UKX3 223605 1938 5.54 17 Myofibril NA 0 PE1 -NX_Q9UKX5 133470 1188 6.24 15 Membrane NA 1 PE1 -NX_Q9UKX7 50144 468 6.64 22 Nucleus membrane;Nucleus membrane;Nuclear pore complex;Nucleoplasm NA 0 PE1 -NX_Q9UKY0 20293 176 9.24 20 Cell membrane NA 0 PE1 -NX_Q9UKY1 98098 873 5.76 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UKY3 30679 287 7.83 16 Secreted NA 0 PE5 -NX_Q9UKY4 84214 750 9.25 14 Endoplasmic reticulum membrane Muscular dystrophy-dystroglycanopathy limb-girdle C2;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 10 PE1 -NX_Q9UKY7 27335 258 6.06 3 Cell membrane;Cytosol;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q9UKZ1 55215 510 5.99 2 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UKZ4 305011 2725 5.98 X Cell membrane;Nucleus;Nucleus speckle;Nucleus matrix;Cytoskeleton;Nucleus;Cytoplasm;Cell membrane NA 1 PE1 -NX_Q9UKZ9 45717 415 8.81 3 Cytosol;Secreted;Nucleoplasm NA 0 PE1 -NX_Q9UL01 109773 958 8.23 6 Cytosol;Nucleoplasm;Membrane Ehlers-Danlos syndrome, musculocontractural type 2 2 PE1 -NX_Q9UL03 100390 887 8.79 13 Nucleus;Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q9UL12 101037 918 6.8 9 Mitochondrion matrix;Mitochondrion Sarcosinemia 0 PE1 -NX_Q9UL15 51200 447 5.76 14 Cytoplasmic vesicle NA 0 PE1 -NX_Q9UL16 65730 551 8.94 1 Nucleoplasm;Cilium NA 0 PE1 -NX_Q9UL17 58328 535 5.67 17 Nucleus Asthma, with nasal polyps and aspirin intolerance 0 PE1 -NX_Q9UL18 97214 857 9.27 1 P-body NA 0 PE1 -NX_Q9UL19 18179 164 8.78 11 Membrane NA 1 PE1 -NX_Q9UL25 24348 225 8.11 12 Endosome;Endoplasmic reticulum membrane;trans-Golgi network;Golgi apparatus membrane;Early endosome membrane;Cytoplasmic vesicle membrane;Cleavage furrow NA 0 PE1 -NX_Q9UL26 21855 194 8.32 20 Phagosome membrane;Cytoplasmic vesicle;Phagosome;Endosome membrane;Cell membrane;Early endosome;Late endosome;Ruffle;Centrosome NA 0 PE1 -NX_Q9UL33 16146 140 6.28 16 Cytoplasmic vesicle;Cytosol;Perinuclear region;Endoplasmic reticulum;Golgi apparatus NA 0 PE1 -NX_Q9UL36 203704 1845 8.46 18 Nucleoplasm;Cell junction;Nucleus;Cytosol NA 0 PE1 -NX_Q9UL40 32933 294 9.24 5 Nucleus;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q9UL41 52404 463 9.59 X Nucleus;Nucleolus NA 0 PE1 -NX_Q9UL42 41509 364 4.84 8 Nucleolus NA 0 PE1 -NX_Q9UL45 19744 172 6.01 15 Cytoplasm;Membrane Hermansky-Pudlak syndrome 9 0 PE1 -NX_Q9UL46 27402 239 5.54 14 Nucleus NA 0 PE1 -NX_Q9UL49 52697 500 6.44 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UL51 96950 889 9.15 19 Cell membrane NA 6 PE1 -NX_Q9UL52 47696 423 8.85 4 Cell membrane;Secreted NA 1 PE1 -NX_Q9UL54 138251 1235 6.84 16 Cytosol;Cytoskeleton;Nucleus;Dendrite;Cytoplasmic vesicle membrane;Nucleus;Nucleolus NA 5 PE1 -NX_Q9UL58 60034 517 8.96 11 Cytoplasmic vesicle;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UL59 70992 606 8.84 11 Nucleus NA 0 PE1 -NX_Q9UL62 111412 973 6.94 X Cell membrane NA 6 PE1 -NX_Q9UL63 84768 735 5.91 7 Cell membrane;Cytosol;Cytoplasmic vesicle;Cytoplasm;Ruffle;Cell cortex NA 0 PE1 -NX_Q9UL68 133043 1186 4.86 2 Nucleus;Chromosome Mental retardation, autosomal dominant 39 0 PE1 -NX_Q9ULA0 52428 475 7.03 2 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9ULB1 161883 1477 5.61 2 Synapse;Cell membrane NA 1 PE1 -NX_Q9ULB4 88689 789 4.73 5 Cell membrane NA 1 PE1 -NX_Q9ULB5 87086 785 4.64 18 Cell membrane NA 1 PE1 -NX_Q9ULC0 27452 261 7.72 4 Cell membrane;Membrane;Secreted NA 1 PE1 -NX_Q9ULC3 26659 237 6.22 6 Cytosol;Cell membrane;Phagosome;Phagosome membrane;Cytoplasm;Autophagosome;Endosome membrane;Cell membrane Carpenter syndrome 1 0 PE1 -NX_Q9ULC4 20555 181 8.98 X Cytoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_Q9ULC5 75991 683 6.49 10 Mitochondrion outer membrane;Endoplasmic reticulum;Mitochondrion;Nucleus;Endoplasmic reticulum membrane;Mitochondrion NA 1 PE1 -NX_Q9ULC6 74666 663 6.07 1 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9ULC8 81443 765 9.33 22 Nucleoplasm;Cytosol;Cytoplasmic vesicle membrane NA 4 PE1 -NX_Q9ULD0 114481 1010 6.18 10 Nucleus;Nucleolus;Mitochondrion matrix;Cytosol NA 0 PE1 -NX_Q9ULD2 141397 1270 7.33 8 Spindle;Centrosome;Cytoskeleton;Nucleolus;Mitochondrion;Golgi apparatus;Cell membrane;Nucleus Hepatocellular carcinoma 0 PE1 -NX_Q9ULD4 135745 1205 6.17 6 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q9ULD5 85176 760 5.62 7 Nucleus;Nucleus NA 0 PE1 -NX_Q9ULD6 105648 942 5.59 4 Cell surface;Cytoplasmic vesicle;Cilium basal body;Cytoplasm NA 0 PE1 -NX_Q9ULD8 117129 1083 8.25 12 Nucleus;Mitochondrion;Membrane NA 6 PE1 -NX_Q9ULD9 162208 1512 8.92 5 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9ULE0 122676 1092 6 X Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9ULE3 113853 1009 9.11 7 Cytoskeleton NA 0 PE1 -NX_Q9ULE4 121044 1060 5.87 4 NA NA 0 PE1 -NX_Q9ULE6 96754 856 6.08 10 Cytosol NA 0 PE1 -NX_Q9ULF5 94132 831 6.25 2 Membrane;Cell membrane;Nucleoplasm;Cytosol NA 7 PE1 -NX_Q9ULG1 176753 1556 9.53 15 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9ULG3 46740 409 8.11 3 NA NA 0 PE1 -NX_Q9ULG6 87340 757 5.67 15 Endoplasmic reticulum;Golgi apparatus;Cytoplasmic granule membrane NA 1 PE1 -NX_Q9ULH0 196542 1771 6.19 2 Nucleoplasm;Membrane;Late endosome Spastic paraplegia, intellectual disability, nystagmus, and obesity 4 PE1 -NX_Q9ULH1 125498 1129 6.95 8 Cytoplasm;Membrane;Cell membrane;Cytosol;Centrosome NA 0 PE1 -NX_Q9ULH4 84731 789 6.27 6 Membrane;Postsynaptic cell membrane;Synapse;Cytoplasmic vesicle NA 1 PE1 -NX_Q9ULH7 118127 1088 5.89 16 Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9ULI0 164914 1458 6.36 2 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9ULI1 197466 1742 5.85 4 NA NA 0 PE1 -NX_Q9ULI2 42464 386 5.67 12 Nucleoplasm;Cytoplasm;Microtubule organizing center NA 0 PE1 -NX_Q9ULI3 147461 1381 5.8 3 Cytoplasmic vesicle;Cell membrane;Cell junction;Secreted NA 1 PE1 -NX_Q9ULI4 194590 1882 9.12 14 Cytosol;Cytoskeleton;Cell membrane;Nucleus NA 0 PE1 -NX_Q9ULJ1 73728 636 6.09 1 Mitochondrion NA 0 PE1 -NX_Q9ULJ3 118870 1066 8.61 21 Nucleus;Nucleus NA 0 PE1 -NX_Q9ULJ6 115483 1067 7.09 10 Cytoplasmic vesicle;Nucleus speckle;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9ULJ7 155859 1429 6.13 4 Cytosol;Endosome;Nucleoplasm NA 0 PE1 -NX_Q9ULJ8 123342 1098 5.01 7 Cytosol;Cytoskeleton;Synaptosome;Nucleoplasm NA 0 PE1 -NX_Q9ULK0 112131 1009 6.23 10 Cell membrane;Postsynaptic cell membrane NA 3 PE1 -NX_Q9ULK2 91514 861 9.82 7 Nucleus;Cytoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9ULK4 156474 1368 7.09 6 Nucleus;Nucleus;Cytoplasmic vesicle;Nucleoplasm Mental retardation, autosomal recessive 18 0 PE1 -NX_Q9ULK5 59714 521 9.27 1 Cell membrane Neural tube defects 4 PE1 -NX_Q9ULK6 48072 438 5.11 4 Membrane NA 1 PE1 -NX_Q9ULL0 187021 1709 8.72 X Acrosome NA 0 PE1 -NX_Q9ULL1 155439 1385 5.84 6 Nucleoplasm NA 0 PE1 -NX_Q9ULL4 206847 1909 5.96 X Cell membrane NA 1 PE1 -NX_Q9ULL5 129991 1215 8.18 19 Cytosol;Nucleus;Synaptosome;Postsynaptic density NA 0 PE1 -NX_Q9ULL8 164857 1493 6.2 X Cytoskeleton Mental retardation, X-linked, syndromic, Stocco dos Santos type 0 PE1 -NX_Q9ULM0 151232 1364 8.17 14 Centrosome NA 0 PE1 -NX_Q9ULM2 61340 529 9.02 19 Nucleus NA 0 PE1 -NX_Q9ULM3 150782 1422 9.1 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9ULM6 63307 557 6.82 5 Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9ULN7 30513 279 6.04 19 NA NA 0 PE1 -NX_Q9ULP0 38459 352 5.79 16 Golgi apparatus;Cytosol;Nucleus;Cytosol NA 0 PE1 -NX_Q9ULP9 62919 559 7.14 16 Cell junction;Cell membrane;Cytoplasm Familial infantile myoclonic epilepsy;Epileptic encephalopathy, early infantile, 16;Deafness, autosomal dominant, 65;Deafness, autosomal recessive, 86;Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 0 PE1 -NX_Q9ULQ0 95360 834 5.65 7 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9ULQ1 94147 816 8.47 12 Lysosome membrane;Endosome membrane NA 12 PE1 -NX_Q9ULR0 32992 285 5.15 3 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9ULR3 56448 514 6.14 12 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9ULR5 14237 123 4.06 2 Cytosol NA 0 PE1 -NX_Q9ULS5 53785 477 8.77 12 Membrane;Cytosol NA 2 PE1 -NX_Q9ULS6 54237 477 5.58 8 Cell membrane NA 6 PE1 -NX_Q9ULT0 96185 858 6.03 2 Cytoplasm;Cell membrane Gastrointestinal defects and immunodeficiency syndrome 0 PE1 -NX_Q9ULT6 100574 936 8.14 22 Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q9ULT8 289384 2610 5.21 14 Nucleolus;Nucleus NA 0 PE1 -NX_Q9ULU4 131692 1186 6.83 20 Nucleus;Nucleus;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q9ULU8 152786 1353 5.5 3 Cytoplasmic vesicle membrane;Cytoplasmic vesicle;Synapse NA 0 PE1 -NX_Q9ULV0 213672 1848 6.77 18 Cytoplasm;Cell membrane Diarrhea 2, with microvillus atrophy 0 PE1 -NX_Q9ULV1 59881 537 7.05 11 Cell membrane;Cytosol;Nucleoplasm;Membrane;Cell membrane Vitreoretinopathy, exudative 1 7 PE1 -NX_Q9ULV3 100045 898 5.77 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9ULV4 53249 474 6.65 12 Cytoskeleton;Cytoplasm;Cell membrane;Lamellipodium;Cytoskeleton NA 0 PE1 -NX_Q9ULV5 53011 492 5.29 16 Nucleus speckle;Nucleus Cataract 5, multiple types 0 PE1 -NX_Q9ULV8 52456 474 7.83 19 Nucleoplasm NA 0 PE1 -NX_Q9ULW0 85653 747 9.29 20 Nucleus;Spindle;Nucleus;Spindle;Spindle pole;Nucleoplasm NA 0 PE1 -NX_Q9ULW2 65336 581 8.83 12 Cell membrane;Nucleoplasm NA 7 PE1 -NX_Q9ULW3 31079 272 9.87 6 Nucleus;Nucleolus NA 0 PE1 -NX_Q9ULW5 27900 256 9.43 16 Cell membrane;Cytoplasmic vesicle;Centrosome;Secretory vesicle membrane;Golgi apparatus membrane NA 0 PE1 -NX_Q9ULW6 52542 460 4.39 X Cell membrane;Cytosol;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9ULW8 74743 664 5.3 1 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle Uncombable hair syndrome 1 0 PE1 -NX_Q9ULX3 46675 412 6.72 16 Focal adhesion;Nucleus;Cytosol NA 0 PE1 -NX_Q9ULX5 68298 631 8.88 17 Nucleus speckle;Membrane NA 2 PE2 -NX_Q9ULX6 71649 646 4.97 19 Nucleus;Nucleus speckle;Nucleus;Nucleus matrix;Nucleus speckle;PML body;Cytoplasm NA 0 PE1 -NX_Q9ULX7 37668 337 5.9 1 Cell membrane;Membrane NA 1 PE1 -NX_Q9ULX9 17760 164 9.85 22 Mitochondrion;Nucleus;Nucleus NA 0 PE1 -NX_Q9ULY5 25073 219 5.12 12 Membrane;Cytosol NA 1 PE1 -NX_Q9ULZ0 13627 132 8.45 16 Nucleus;Cytoplasm NA 0 PE2 -NX_Q9ULZ1 8569 77 11.83 X Secreted NA 0 PE1 -NX_Q9ULZ2 34291 295 7.61 4 Nucleus;Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Mitochondrion NA 0 PE1 -NX_Q9ULZ3 21627 195 5.95 16 Cytosol;Cytoplasm;Endoplasmic reticulum;Mitochondrion;Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9ULZ9 66653 603 6.08 12 Cell membrane;Extracellular matrix NA 0 PE1 -NX_Q9UM00 21175 188 9.77 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Golgi apparatus membrane Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome;Glaucoma, primary open angle 2 PE1 -NX_Q9UM01 55991 511 5.29 14 Basolateral cell membrane Lysinuric protein intolerance 12 PE1 -NX_Q9UM07 74079 663 6.15 1 Cytoplasmic granule;Nucleus;Cytoplasm Rheumatoid arthritis 0 PE1 -NX_Q9UM11 55179 496 9.41 19 Nucleus;Cytoplasm;Nucleus membrane;Nucleoplasm NA 0 PE1 -NX_Q9UM13 21252 185 9.17 4 Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q9UM19 22202 191 4.76 1 Nucleus;Cytoplasm NA 0 PE1 -NX_Q9UM21 61544 535 6.94 2 Golgi apparatus membrane;Secreted;Golgi apparatus NA 1 PE1 -NX_Q9UM22 25437 224 6.33 7 Secreted NA 0 PE1 -NX_Q9UM44 46850 414 5.77 3 Membrane NA 1 PE1 -NX_Q9UM47 243631 2321 5.18 19 Cytosol;Nucleoplasm;Cell membrane;Nucleus;Cytoskeleton Lateral meningocele syndrome;Myofibromatosis, infantile 2;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 1 PE1 -NX_Q9UM54 149691 1294 8.74 6 Perinuclear region;trans-Golgi network membrane;Ruffle membrane;Nucleoplasm;Golgi apparatus;Nucleus;Clathrin-coated pit;Ruffle membrane;Clathrin-coated vesicle membrane Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy;Deafness, autosomal recessive, 37;Deafness, autosomal dominant, 22 0 PE1 -NX_Q9UM63 50819 463 8.85 6 Golgi apparatus;Cytoplasmic vesicle;Nucleus;Nucleus NA 0 PE1 -NX_Q9UM73 176442 1620 6.67 2 Cell membrane;Cell membrane Neuroblastoma 3 1 PE1 -NX_Q9UM82 58427 520 9 20 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q9UMD9 150419 1497 8.89 10 Hemidesmosome;Membrane;Basement membrane;Basement membrane Epithelial recurrent erosion dystrophy;Generalized atrophic benign epidermolysis bullosa 1 PE1 -NX_Q9UMF0 97116 924 5.71 19 Nucleoplasm;Membrane NA 1 PE1 -NX_Q9UMN6 293515 2715 8.59 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UMQ3 31188 279 8.65 11 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UMQ6 84423 739 5.39 6 Acrosome NA 0 PE1 -NX_Q9UMR2 53927 479 5.96 16 Nucleus envelope;Cytoplasm;Nuclear pore complex;Nucleus membrane NA 0 PE1 -NX_Q9UMR3 49232 447 7.29 7 Nucleus Atrial septal defect 4 0 PE1 -NX_Q9UMR5 34225 302 5.87 6 Endoplasmic reticulum;Lysosome NA 0 PE1 -NX_Q9UMR7 27512 237 6.32 12 Membrane NA 1 PE1 -NX_Q9UMS0 28463 254 4.97 2 Cytosol;Nucleoplasm;Mitochondrion;Cytosol Multiple mitochondrial dysfunctions syndrome 1 0 PE1 -NX_Q9UMS4 55181 504 6.14 11 Nucleus speckle;Nucleus;Nucleoplasm;Spindle;Cytoplasm;Lipid droplet NA 0 PE1 -NX_Q9UMS5 87252 762 9.64 1 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UMS6 117514 1093 8.75 4 Cytoskeleton;Cytoskeleton;Cytosol;Cytoplasmic vesicle;Nucleus;Cytoplasm;Cytoskeleton;Z line;Focal adhesion NA 0 PE1 -NX_Q9UMW8 43011 372 8.05 22 Nucleus;Cytosol;Cytoplasm;Nucleus Pseudo-TORCH syndrome 2 0 PE1 -NX_Q9UMX0 62519 589 5.02 9 Cytoplasm;Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Autophagosome;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q9UMX1 53947 484 5.16 10 Nucleus;Cytoplasm;Nucleus Medulloblastoma 0 PE1 -NX_Q9UMX2 27413 235 6.38 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UMX3 23280 212 9.33 2 Endoplasmic reticulum;Nucleus;Mitochondrion;Mitochondrion outer membrane;Early endosome membrane;Mitochondrion membrane;Endoplasmic reticulum membrane;Recycling endosome membrane;Membrane;trans-Golgi network membrane;cis-Golgi network membrane;Nucleus outer membrane;Mitochondrion inner membrane;Cytoplasm NA 1 PE1 -NX_Q9UMX5 18856 172 5.51 1 Extracellular space;Nucleus NA 0 PE1 -NX_Q9UMX6 23420 200 4.75 6 Cell membrane Retinitis pigmentosa 48 0 PE1 -NX_Q9UMX9 58268 530 7.17 5 Melanosome membrane Albinism, oculocutaneous, 4 12 PE1 -NX_Q9UMY1 29426 257 9.68 6 Nucleolus;Nucleus;Mitochondrion;Nucleolus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UMY4 19730 172 7.71 X Membrane NA 0 PE1 -NX_Q9UMZ2 140654 1314 4.9 17 trans-Golgi network membrane;Cytosol;Cytoplasm NA 0 PE1 -NX_Q9UMZ3 260924 2332 5.57 12 Cytosol;Membrane Deafness, autosomal recessive, 84A 1 PE1 -NX_Q9UN19 32194 280 7.66 4 Cytoplasm;Membrane NA 0 PE1 -NX_Q9UN30 37447 329 6.42 X Nucleus;Nucleus NA 0 PE1 -NX_Q9UN36 40798 371 5.08 14 Golgi apparatus;Cytosol;Cytoplasm;Perinuclear region;Growth cone;Nucleoplasm;Microtubule organizing center NA 0 PE1 -NX_Q9UN37 48898 437 7.64 16 Midbody;Prevacuolar compartment membrane;Late endosome membrane;Midbody NA 0 PE1 -NX_Q9UN42 41598 357 4.69 X Nucleus inner membrane NA 1 PE1 -NX_Q9UN66 87639 801 4.77 5 Cell membrane NA 1 PE1 -NX_Q9UN67 87621 800 4.75 5 Cell membrane NA 1 PE1 -NX_Q9UN70 101077 934 5.07 5 Cell membrane;Cell membrane NA 1 PE1 -NX_Q9UN71 99927 923 4.8 5 Cell membrane NA 1 PE2 -NX_Q9UN72 100865 937 5.08 5 Cell membrane NA 1 PE2 -NX_Q9UN73 102716 950 4.93 5 Cytoplasmic vesicle;Cell membrane;Secreted NA 1 PE1 -NX_Q9UN74 102293 947 4.96 5 Nucleoplasm;Cytosol;Cell membrane;Cell membrane NA 1 PE1 -NX_Q9UN75 101652 941 5.13 5 Cell membrane;Cytosol NA 1 PE1 -NX_Q9UN76 72153 642 8.53 X Cytoplasmic vesicle;Membrane NA 12 PE1 -NX_Q9UN79 69228 622 6.26 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UN81 40056 338 9.54 unknown Nucleolus;Cytoplasm NA 0 PE1 -NX_Q9UN86 54121 482 5.41 4 Cytoplasm;Cytosol NA 0 PE1 -NX_Q9UN88 72022 632 5.55 X Cell membrane;Postsynaptic cell membrane NA 3 PE2 -NX_Q9UNA0 101718 930 9.13 21 Nucleoplasm;Extracellular matrix NA 0 PE1 -NX_Q9UNA1 92235 814 6.2 5 Cytosol;Focal adhesion;Cytoskeleton Leukemia, juvenile myelomonocytic 0 PE1 -NX_Q9UNA3 39497 340 6.42 3 Golgi apparatus membrane NA 1 PE1 -NX_Q9UNA4 83006 740 5.73 18 Nucleus;Cytoplasm;Nucleus speckle;Cytosol;Nucleus NA 0 PE1 -NX_Q9UND3 40133 350 9.48 16 Nuclear pore complex;Nucleus membrane NA 0 PE2 -NX_Q9UNE0 48582 448 5.08 2 Membrane Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 1 PE1 -NX_Q9UNE2 34464 315 9.23 17 Secretory vesicle membrane;Cytoplasm NA 0 PE1 -NX_Q9UNE7 34856 303 5.61 16 Nucleus;Cytosol;Nucleoplasm;Cytoplasm Spinocerebellar ataxia, autosomal recessive, 16 0 PE1 -NX_Q9UNF0 55739 486 5.08 22 Cytoplasm;Cell membrane;Cell projection;Caveola;Cytoplasmic vesicle;Nucleus speckle;Cytosol;Cytoskeleton;Cytoplasmic vesicle membrane;Early endosome;Recycling endosome membrane;Ruffle membrane;Cell membrane NA 0 PE1 -NX_Q9UNF1 64954 606 9.35 X Cytosol;Nucleus;Nucleolus Bartter syndrome 5, antenatal, transient 0 PE1 -NX_Q9UNG2 22724 199 7.62 1 Cell membrane NA 1 PE1 -NX_Q9UNH5 66574 594 9.21 1 Nucleus;Nucleus;Cytosol;Nucleoplasm;Centrosome;Spindle pole;Spindle;Kinocilium Deafness, autosomal recessive, 105 0 PE1 -NX_Q9UNH6 45303 387 5.02 1 Cytosol;Nucleolus;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q9UNH7 46649 406 5.81 14 Golgi apparatus;Cytoplasm;Cytoplasm;Nucleus;Early endosome;Early endosome membrane;Cytoplasmic vesicle;Endosome;Lysosome NA 0 PE1 -NX_Q9UNI1 27798 258 8.59 12 Secreted NA 0 PE1 -NX_Q9UNI6 37687 340 6.41 1 Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_Q9UNK0 26907 236 4.91 17 Nucleus;Cytoskeleton;Membrane;Cytosol;Golgi apparatus NA 1 PE1 -NX_Q9UNK4 16546 145 8.6 1 Secreted NA 0 PE1 -NX_Q9UNK9 75276 670 4.72 14 Nucleoplasm NA 0 PE1 -NX_Q9UNL2 21080 185 9.61 3 Cytosol;Endoplasmic reticulum membrane NA 4 PE1 -NX_Q9UNL4 28530 249 7.53 12 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UNM6 42945 376 5.53 11 Nucleus speckle;Cytosol NA 0 PE1 -NX_Q9UNN4 52444 478 4.58 2 Nucleus NA 0 PE1 -NX_Q9UNN5 73954 650 4.81 1 Nucleus;Nucleus NA 0 PE1 -NX_Q9UNN8 26671 238 6.7 20 Cytoplasm;Cell membrane;Membrane NA 1 PE1 -NX_Q9UNP4 47990 418 9.13 2 Golgi apparatus membrane;Cytoplasmic vesicle Salt and pepper developmental regression syndrome 1 PE1 -NX_Q9UNP9 33431 301 5.41 1 Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9UNQ0 72314 655 8.91 4 Cell membrane;Cell membrane;Nucleus;Mitochondrion membrane NA 6 PE1 -NX_Q9UNQ2 35236 313 10.01 5 Nucleolus;Cytosol;Nucleus;Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q9UNS1 138658 1208 5.28 12 Nucleus;Nucleus NA 0 PE1 -NX_Q9UNS2 47873 423 6.19 17 Cytosol;Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UNT1 26101 228 4.75 22 Centriole;Cilium basal body;Cytoplasm NA 0 PE1 -NX_Q9UNU6 58068 501 8.78 3 Microsome membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9UNW1 55051 487 7.93 10 Endoplasmic reticulum lumen Thyroid cancer, non-medullary, 2 0 PE1 -NX_Q9UNW8 42499 380 8.95 14 Cell membrane NA 7 PE1 -NX_Q9UNW9 49009 492 8.24 19 Nucleoplasm;Nucleus;Golgi apparatus;Nucleus NA 0 PE1 -NX_Q9UNX3 17256 145 10.55 5 NA NA 0 PE1 -NX_Q9UNX4 106099 943 6.2 1 Nucleus;Nucleolus;Nucleus membrane;Nucleolus NA 0 PE1 -NX_Q9UNX9 47846 436 5.25 19 Nucleolus;Membrane NA 2 PE1 -NX_Q9UNY4 129588 1162 8.63 1 Nucleus;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9UNY5 47688 417 6.28 17 Cytoplasmic vesicle;Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q9UNZ2 40573 370 4.99 20 Cytosol;Nucleus;Golgi stack;Chromosome;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q9UNZ5 10577 99 11.55 19 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UP38 71158 647 8.33 7 Cell membrane;Membrane;Cell membrane NA 7 PE1 -NX_Q9UP52 88755 801 5.72 7 Cell membrane;Cytoplasm Hemochromatosis 3 1 PE1 -NX_Q9UP65 60939 541 6.46 19 Membrane;Cytosol NA 0 PE1 -NX_Q9UP79 96460 889 5.78 11 Extracellular matrix NA 0 PE1 -NX_Q9UP83 92743 839 6.15 7 Nucleoplasm;Cytosol;Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2I 0 PE1 -NX_Q9UP95 120650 1085 6.02 16 Endosome;Membrane NA 12 PE1 -NX_Q9UPA5 416469 3926 7.28 3 Cytoskeleton;Cytoplasm;Synaptosome NA 0 PE1 -NX_Q9UPC5 43860 381 9.89 X Nucleus;Cytosol;Cell membrane NA 7 PE2 -NX_Q9UPE1 62014 567 6.83 X NA NA 0 PE1 -NX_Q9UPG8 54584 496 8.95 20 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UPI3 57241 526 5.78 14 Cell membrane;Cell membrane Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 12 PE1 -NX_Q9UPM6 40045 363 8.77 9 Nucleus;Nucleolus;Cell membrane;Nucleus NA 0 PE1 -NX_Q9UPM8 127287 1137 5.66 15 trans-Golgi network membrane Spastic paraplegia 51, autosomal recessive;Stuttering, familial persistent 1 0 PE1 -NX_Q9UPM9 22775 204 6.73 17 Cilium basal body;Cilium axoneme Joubert syndrome 27;Meckel syndrome 9 0 PE1 -NX_Q9UPN3 838308 7388 5.28 1 Cytoplasm;Cytoplasm;Golgi apparatus;Ruffle membrane;Cell membrane;Cytoskeleton NA 0 PE1 -NX_Q9UPN4 122149 1083 8.84 17 Microtubule organizing center;Centrosome;Centriolar satellite;Cilium basal body;Acrosome;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q9UPN6 140519 1271 8.41 6 Nucleoplasm;Nucleus;Nucleus matrix NA 0 PE1 -NX_Q9UPN7 96724 881 4.45 19 Cytoplasm;Cytosol NA 0 PE1 -NX_Q9UPN9 122533 1127 6.23 1 Nucleus;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9UPP1 117864 1060 8.92 X Nucleus;Nucleolus;Nucleus Mental retardation, X-linked, syndromic, Siderius type 0 PE1 -NX_Q9UPP2 127621 1182 6.08 12 Cytoplasm NA 0 PE1 -NX_Q9UPP5 155681 1409 5.83 1 Cell membrane;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q9UPQ0 121867 1083 6.1 4 Cell membrane;Cytoskeleton NA 0 PE1 -NX_Q9UPQ3 94470 857 8.18 2 Cytoplasm NA 0 PE1 -NX_Q9UPQ4 56540 493 6.71 8 Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9UPQ7 119596 1066 5.68 3 Cytosol;Nucleus NA 0 PE1 -NX_Q9UPQ8 59268 538 8.87 9 Golgi apparatus;Nucleus;Cytosol;Endoplasmic reticulum membrane Congenital disorder of glycosylation 1M 15 PE1 -NX_Q9UPQ9 194002 1833 6.31 22 P-body NA 0 PE1 -NX_Q9UPR0 125866 1127 6.47 3 Cytoplasm NA 0 PE1 -NX_Q9UPR3 113928 1016 5.63 1 Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9UPR5 100368 921 5.02 19 Basolateral cell membrane;Cell membrane;Dendritic spine;Perikaryon;Dendrite NA 11 PE1 -NX_Q9UPR6 101330 939 8.76 19 Nucleoplasm NA 0 PE1 -NX_Q9UPS6 212803 1966 4.86 12 Nucleus speckle;Chromosome;Nucleoplasm NA 0 PE1 -NX_Q9UPS8 196324 1709 5.54 10 Golgi apparatus;Cytoplasmic vesicle Thrombocytopenia 2 0 PE1 -NX_Q9UPT5 83382 735 6.33 17 Cytosol;Midbody ring;Cytosol;Cell membrane;Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q9UPT6 147457 1336 5.26 16 Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9UPT8 140257 1303 5.87 19 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9UPT9 59961 525 8.37 17 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q9UPU3 135755 1222 6.14 10 Membrane NA 1 PE1 -NX_Q9UPU5 294365 2620 5.79 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9UPU7 109880 963 5.85 15 Cytoplasmic vesicle NA 0 PE1 -NX_Q9UPU9 79415 718 8.61 14 Cell junction;Cytosol;Cytoplasm;Dendrite;Synaptosome NA 0 PE1 -NX_Q9UPV0 164314 1460 5.27 11 Centriole;Nucleus;Centrosome;Nucleoplasm Nephronophthisis 15 0 PE1 -NX_Q9UPV7 45192 400 5.48 9 NA NA 0 PE1 -NX_Q9UPV9 106040 953 5.59 3 Cytoplasm;Nucleoplasm;Endoplasmic reticulum;Cytoplasm;Nucleus;Mitochondrion;Endosome;Early endosome NA 0 PE1 -NX_Q9UPW0 68960 622 6.59 1 Nucleoplasm;Nucleus;Nucleus speckle;Cytoplasmic vesicle NA 0 PE1 -NX_Q9UPW5 138448 1226 5.78 9 Nucleolus;Cytoplasmic vesicle;Mitochondrion;Cytoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q9UPW6 82555 733 6.44 2 Nucleoplasm;Nucleus matrix Cleft palate isolated 0 PE1 -NX_Q9UPW8 193014 1703 5.21 19 Cytoplasm;Presynaptic cell membrane;Cell membrane NA 0 PE1 -NX_Q9UPX0 147089 1349 6.22 11 Cytosol;Postsynaptic cell membrane;Postsynaptic density NA 1 PE1 -NX_Q9UPX6 102993 916 7.04 15 Golgi apparatus;Membrane NA 1 PE1 -NX_Q9UPX8 158822 1470 6.48 11 Dendritic spine;Apical cell membrane;Cytoplasm;Synapse;Postsynaptic density;Growth cone Autism 17 0 PE1 -NX_Q9UPY3 218682 1922 5.47 14 Cytoplasm;Cytosol Rhabdomyosarcoma, embryonal, 2;Pleuropulmonary blastoma;Goiter multinodular 1, with or without Sertoli-Leydig cell tumors 0 PE1 -NX_Q9UPY5 55423 501 9.29 4 Membrane;Cytoplasmic vesicle NA 12 PE1 -NX_Q9UPY6 55293 502 6 13 Cytoskeleton NA 0 PE1 -NX_Q9UPY8 31982 281 5.33 2 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q9UPZ3 127449 1129 5.35 11 Cytosol Hermansky-Pudlak syndrome 5 0 PE1 -NX_Q9UPZ6 185363 1657 7.74 7 Cell membrane;Secreted NA 1 PE1 -NX_Q9UPZ9 71427 632 9.79 6 Cilium basal body;Cilium;Cytosol;Nucleus Endocrine-cerebroosteodysplasia 0 PE1 -NX_Q9UQ03 54953 480 8.53 15 Cytoskeleton;Focal adhesion;Cell membrane NA 0 PE1 -NX_Q9UQ05 111693 1017 8.87 17 Membrane NA 6 PE2 -NX_Q9UQ07 48014 419 9.64 14 Endoplasmic reticulum;Cytoplasm;Cilium;Nucleus NA 0 PE2 -NX_Q9UQ10 36382 334 6.76 19 Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q9UQ13 64888 582 8.65 10 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Noonan syndrome-like disorder with loose anagen hair 0 PE1 -NX_Q9UQ16 97746 869 8.51 1 Cytoplasm;Golgi apparatus;Cytoskeleton NA 0 PE1 -NX_Q9UQ26 160403 1411 9.17 8 Synapse;Cytosol;Cell membrane;Presynaptic cell membrane NA 0 PE1 -NX_Q9UQ35 299615 2752 12.05 16 Nucleus;Cytoplasm;Nucleus speckle;Nucleus speckle NA 0 PE1 -NX_Q9UQ49 48252 428 6.78 11 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q9UQ52 113956 1028 5.73 3 Cell membrane NA 0 PE1 -NX_Q9UQ53 63198 548 7.72 5 Golgi apparatus membrane NA 1 PE1 -NX_Q9UQ72 37146 335 6.65 19 Secreted NA 0 PE1 -NX_Q9UQ74 47772 426 8.94 19 Secreted NA 0 PE2 -NX_Q9UQ80 43787 394 6.13 12 Cytoplasm;Cytosol;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q9UQ84 94103 846 8.59 1 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q9UQ88 91362 783 5.28 1 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9UQ90 88235 795 8.79 16 Mitochondrion inner membrane Spastic paraplegia 7, autosomal recessive 2 PE1 -NX_Q9UQB3 132656 1225 7.78 5 Nucleoplasm;Golgi apparatus;Cell junction;Perikaryon;Dendrite;Adherens junction;Nucleus NA 0 PE1 -NX_Q9UQB8 60868 552 8.99 17 Filopodium;Ruffle;Membrane;Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9UQB9 35591 309 8.96 19 Nucleus;Spindle;Chromosome;Centromere Spermatogenic failure 5 0 PE1 -NX_Q9UQC2 74458 676 8.54 11 Cell membrane;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9UQC9 103941 943 6.56 1 Cell junction;Basal cell membrane;Cell membrane;Nucleus;Cell junction;Secreted NA 1 PE1 -NX_Q9UQD0 225280 1980 5.95 12 Cell membrane;Cytoplasmic vesicle;Cell junction;Cytoplasmic vesicle Seizures, benign familial infantile, 5;Epileptic encephalopathy, early infantile, 13;Cognitive impairment with or without cerebellar ataxia 24 PE1 -NX_Q9UQE7 141542 1217 6.77 10 Nucleus;Chromosome;Centromere;Nucleoplasm Cornelia de Lange syndrome 3 0 PE1 -NX_Q9UQF0 59866 538 8.8 7 Cell membrane;Cell membrane;Virion NA 1 PE1 -NX_Q9UQF2 77524 711 4.87 11 Cell membrane;Cytoplasm;Perinuclear region;Nucleus;Endoplasmic reticulum membrane;Mitochondrion membrane Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_Q9UQG0 109665 969 9.15 3 NA NA 0 PE2 -NX_Q9UQK1 36445 317 7.15 10 NA NA 0 PE1 -NX_Q9UQL6 121978 1122 5.83 17 Nucleus;Cytoplasm;Nucleus speckle;Golgi apparatus;Cytosol NA 0 PE1 -NX_Q9UQM7 54088 478 6.61 5 Presynaptic cell membrane;Synapse NA 0 PE1 -NX_Q9UQN3 23907 213 8.81 3 Nucleus;Cytoplasm;Cytosol;Late endosome membrane;Cytosol Amyotrophic lateral sclerosis 17;Frontotemporal dementia, chromosome 3-linked 0 PE1 -NX_Q9UQP3 144034 1299 5.41 1 Extracellular matrix NA 0 PE1 -NX_Q9UQQ1 80558 740 5.2 11 Cytosol;Apical cell membrane NA 1 PE1 -NX_Q9UQQ2 63225 575 6.75 12 Nucleoplasm Celiac disease 13;Diabetes mellitus, insulin-dependent 0 PE1 -NX_Q9UQR0 77257 700 8.79 X Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_Q9UQR1 88976 794 6.03 3 Nucleus;Golgi apparatus;Nucleus Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 PE1 -NX_Q9UQV4 44346 416 8.64 3 Nucleus;Lysosome membrane;Cytoplasmic vesicle membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q9WJR5 108106 959 8.99 19 NA NA 0 PE2 -NX_Q9XRX5 12913 114 9.14 1 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9Y210 106326 931 6.24 11 Cytosol;Membrane;Nucleoplasm Focal segmental glomerulosclerosis 2 6 PE1 -NX_Q9Y215 47766 455 8.42 3 Cell membrane;Cell junction;Synapse Myasthenic syndrome, congenital, 5 0 PE1 -NX_Q9Y216 75833 660 5.94 8 Cytoplasm NA 0 PE1 -NX_Q9Y217 71968 621 7.59 13 Cytoplasm;Nucleus envelope NA 0 PE1 -NX_Q9Y219 133367 1238 5.53 14 Membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q9Y221 20463 180 8.66 16 Nucleolus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y222 84471 760 4.5 7 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9Y223 79275 722 6.32 9 Cytosol;Cytoplasm Nonaka myopathy;Sialuria 0 PE1 -NX_Q9Y224 28068 244 6.19 14 Nucleus;Cytosol;Perinuclear region;Centrosome;Nucleoplasm NA 0 PE1 -NX_Q9Y225 17210 148 8.88 20 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q9Y226 60862 551 7.98 3 Membrane NA 12 PE1 -NX_Q9Y227 70255 616 8.55 8 Cytoplasmic vesicle;Autophagosome membrane;Golgi apparatus membrane NA 2 PE1 -NX_Q9Y228 63626 551 8.79 1 Membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q9Y230 51157 463 5.49 19 Nucleus;Cytoplasm;Nucleus matrix;Centrosome;Nucleoplasm;Cytoplasm;Membrane;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9Y231 42071 359 7.6 6 Cytoskeleton;Nucleoplasm;Golgi stack membrane;Cytosol;Cytoskeleton NA 1 PE1 -NX_Q9Y232 66482 598 9.5 6 Nucleus speckle;Chromosome;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9Y233 88412 779 6.15 6 Cytoplasm Dyskinesia, limb and orofacial, infantile-onset;Striatal degeneration, autosomal dominant 2 0 PE1 -NX_Q9Y234 42479 373 8.66 2 Mitochondrion Lipoyltransferase 1 deficiency 0 PE1 -NX_Q9Y235 25703 224 4.81 6 NA NA 0 PE1 -NX_Q9Y236 56672 505 7.05 8 Nucleolus NA 0 PE2 -NX_Q9Y237 13810 131 9.78 X Nucleus;Nucleolus;Mitochondrion matrix;Cytoplasm;Mitochondrion;Cytoplasm;Spindle;Nucleolus NA 0 PE1 -NX_Q9Y238 195684 1755 5.92 3 Cytoplasm;Cytosol Esophageal cancer;Lung cancer 0 PE1 -NX_Q9Y239 107691 953 6.71 7 Apical cell membrane;Mitochondrion;Cell membrane;Cytoplasm;Basolateral cell membrane NA 0 PE1 -NX_Q9Y240 35695 323 5.06 19 Secreted;Centrosome;Cytoplasm NA 0 PE1 -NX_Q9Y241 10143 93 9.79 3 Mitochondrion;Mitochondrion membrane;Mitochondrion;Mitochondrion inner membrane;Nucleoplasm NA 2 PE1 -NX_Q9Y242 37184 345 8.71 6 Nucleus NA 0 PE1 -NX_Q9Y243 55775 479 5.72 1 Nucleus;Cytoplasm;Cytosol;Membrane;Nucleus;Cytoplasm Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 PE1 -NX_Q9Y244 15789 141 5.01 13 Cytoplasm;Nucleus;Nucleus speckle;Microsome membrane;Nucleus;Cytosol Keratosis linearis with ichthyosis congenita and sclerosing keratoderma 0 PE1 -NX_Q9Y247 38709 325 8.9 6 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q9Y248 21428 185 5.29 16 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y250 66613 596 6.64 8 Cytoplasm;Cell membrane;Synapse;Cell membrane;Nucleolus;Dendritic spine;Postsynaptic density Esophageal cancer 0 PE1 -NX_Q9Y251 61149 543 9.32 4 Lysosome membrane;Nucleoplasm;Cytoplasmic vesicle;Secreted;Nucleus NA 0 PE1 -NX_Q9Y252 78091 685 9.16 13 Nucleus;Cytoplasm;Axon;PML body;Nucleus membrane Esophageal cancer 0 PE1 -NX_Q9Y253 78413 713 8.74 6 Cytosol;Nucleoplasm;Nucleus Xeroderma pigmentosum variant type 0 PE1 -NX_Q9Y255 25181 219 9.56 5 Mitochondrion;Mitochondrion;Mitochondrion intermembrane space;Nucleoplasm NA 0 PE1 -NX_Q9Y256 35833 329 8.33 11 Endoplasmic reticulum membrane NA 7 PE1 -NX_Q9Y257 33747 313 6.05 19 Cell membrane;Cytosol;Cytoskeleton;Membrane NA 4 PE1 -NX_Q9Y258 10648 94 10.22 7 Secreted NA 0 PE1 -NX_Q9Y259 45271 395 5.35 22 Cytosol NA 0 PE1 -NX_Q9Y261 48306 457 8.82 20 Nucleus;Cytoplasm;Nucleoplasm;Cell junction NA 0 PE1 -NX_Q9Y262 66727 564 5.93 22 Nucleus;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q9Y263 87157 795 5.96 9 Nucleus;Cytoplasm;Cell membrane;Cytosol;Nucleus;Cytoplasm;Synapse;Nucleoplasm Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 PE1 -NX_Q9Y264 56849 503 9.1 20 Secreted NA 0 PE1 -NX_Q9Y265 50228 456 6.02 3 Cytosol;Centrosome;Membrane;Cytoplasm;Nucleoplasm;Nucleus matrix;Nucleoplasm NA 0 PE1 -NX_Q9Y266 38243 331 5.27 1 Nucleus;Cytosol;Cytoskeleton;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9Y267 66684 594 8.71 3 Membrane NA 12 PE2 -NX_Q9Y271 38541 337 9.43 X Cell membrane NA 7 PE1 -NX_Q9Y272 31642 281 9.15 17 Nucleoplasm;Cell membrane;Cell membrane;Perinuclear region;Nucleus NA 0 PE1 -NX_Q9Y274 38214 331 9.13 3 Golgi apparatus membrane NA 1 PE1 -NX_Q9Y275 31223 285 5.92 13 Cell membrane;Secreted NA 1 PE1 -NX_Q9Y276 47534 419 8.63 2 Cytoplasmic vesicle;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 1;GRACILE syndrome;Bjoernstad syndrome 1 PE1 -NX_Q9Y277 30659 283 8.84 8 Mitochondrion outer membrane;Mitochondrion NA 0 PE1 -NX_Q9Y278 41501 367 9.93 16 Golgi apparatus membrane NA 1 PE1 -NX_Q9Y279 43987 399 5.93 X Membrane;Nucleolus;Cell membrane;Cytosol NA 1 PE1 -NX_Q9Y281 18737 166 7.66 14 Nucleus matrix;Nucleoplasm;Cell membrane;Cytosol;Cytoskeleton Nemaline myopathy 7 0 PE1 -NX_Q9Y282 43222 383 5.68 20 Nucleoplasm;Endoplasmic reticulum-Golgi intermediate compartment membrane;cis-Golgi network membrane;Endoplasmic reticulum membrane NA 2 PE1 -NX_Q9Y283 117826 1065 9.43 9 Cytoplasm;Cytoskeleton;Cytosol;Nucleus;Cilium;Spindle;Membrane Nephronophthisis 2 0 PE1 -NX_Q9Y284 12068 106 8.41 19 Membrane;Endoplasmic reticulum NA 2 PE1 -NX_Q9Y285 57564 508 7.31 19 Cytosol;Cytoplasm NA 0 PE1 -NX_Q9Y286 51143 467 6.89 19 Membrane NA 1 PE1 -NX_Q9Y287 30338 266 5 13 Golgi apparatus membrane;Secreted;Secreted;Endosome membrane;Golgi apparatus;Cytoplasmic vesicle;Cell membrane Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities;Cerebral amyloid angiopathy, ITM2B-related 2;Cerebral amyloid angiopathy, ITM2B-related 1 1 PE1 -NX_Q9Y289 68642 635 8.61 2 Membrane;Cell junction NA 13 PE1 -NX_Q9Y291 12629 106 10.11 7 Mitochondrion NA 0 PE1 -NX_Q9Y294 22969 204 4.29 6 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_Q9Y295 40542 367 9 22 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y296 24340 219 5.84 11 Cytosol;cis-Golgi network;Endoplasmic reticulum NA 0 PE1 -NX_Q9Y297 68867 605 8.3 10 Cytoplasm;Nucleus;Nucleoplasm;Cell membrane;Cytosol NA 0 PE1 -NX_Q9Y2A0 10275 90 10.04 7 NA NA 0 PE2 -NX_Q9Y2A4 77516 671 9.3 19 Nucleus NA 0 PE1 -NX_Q9Y2A7 128790 1128 6.18 2 Cytosol;Cell membrane;Lamellipodium membrane NA 1 PE1 -NX_Q9Y2A9 42534 372 8.96 19 Golgi apparatus membrane NA 1 PE1 -NX_Q9Y2B0 20652 182 4.81 12 Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_Q9Y2B1 51146 443 8.57 12 Golgi apparatus;Nucleoplasm;Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 1 PE1 -NX_Q9Y2B2 28531 252 8.28 17 Nucleoplasm;Endoplasmic reticulum membrane;Cytosol Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome 1 PE1 -NX_Q9Y2B4 34019 290 10.56 20 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y2B5 68956 631 7.1 16 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9Y2B9 7910 76 4.11 20 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9Y2C2 47673 406 8.88 6 Mitochondrion;Golgi apparatus membrane NA 1 PE1 -NX_Q9Y2C3 36189 310 9.03 21 Golgi apparatus membrane NA 1 PE1 -NX_Q9Y2C4 41085 368 8.45 3 Mitochondrion inner membrane NA 0 PE1 -NX_Q9Y2C5 54055 497 7.45 6 Apical cell membrane;Cell membrane NA 10 PE2 -NX_Q9Y2C9 91880 796 6.83 4 Endoplasmic reticulum;Golgi apparatus;Cell membrane;Phagosome membrane;Membrane raft NA 1 PE1 -NX_Q9Y2D0 36434 317 7.7 X Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9Y2D1 30674 282 4.9 19 Cytosol;Cytoplasm;Nucleus;Centrosome;Nucleoplasm NA 0 PE1 -NX_Q9Y2D2 35985 325 9.22 1 Golgi apparatus membrane Arthrogryposis, mental retardation, and seizures 8 PE1 -NX_Q9Y2D4 94201 811 6.03 2 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y2D5 94661 859 5.04 9 NA NA 0 PE1 -NX_Q9Y2D8 71236 614 6.03 1 Cytoplasm;Adherens junction;Nucleus;Centriolar satellite;Cell junction;Cilium basal body NA 0 PE1 -NX_Q9Y2D9 69744 606 8.92 17 Nucleus;Nucleus NA 0 PE1 -NX_Q9Y2E4 170767 1556 7.12 10 Nucleoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q9Y2E5 113979 1009 6.74 4 Secreted NA 0 PE1 -NX_Q9Y2E6 67258 619 9.65 11 Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q9Y2E8 65422 581 6.07 20 Golgi apparatus membrane NA 11 PE1 -NX_Q9Y2F5 247891 2266 5.32 5 Nucleus;Nucleoplasm;Cajal body;Nucleus NA 0 PE1 -NX_Q9Y2F9 58420 522 7.42 20 Cytosol;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q9Y2G0 92487 817 6.26 2 Nucleus;Cell membrane;Cytosol NA 0 PE1 -NX_Q9Y2G1 124397 1151 7.06 11 Nucleoplasm;Endoplasmic reticulum membrane;Cytosol;Endoplasmic reticulum membrane;Nucleus;Cytoplasm NA 1 PE1 -NX_Q9Y2G2 48933 431 5.1 19 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y2G3 134190 1177 6.52 3 Cytosol;Microtubule organizing center;Endoplasmic reticulum;trans-Golgi network;Recycling endosome membrane;Early endosome NA 10 PE1 -NX_Q9Y2G4 79971 727 9.42 6 Cytoplasmic vesicle NA 0 PE1 -NX_Q9Y2G5 49976 429 6.15 21 Endoplasmic reticulum;Golgi apparatus NA 0 PE1 -NX_Q9Y2G7 61558 519 9.16 19 Cytosol;Nucleus NA 0 PE1 -NX_Q9Y2G8 90591 782 6.67 1 Membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q9Y2G9 150275 1366 6.09 19 NA NA 0 PE1 -NX_Q9Y2H0 108012 992 6.65 20 Cytoplasm;Cell membrane;Focal adhesion;Cytosol;Nucleoplasm;Membrane NA 0 PE1 -NX_Q9Y2H1 54003 464 6.36 12 Cytoplasm;Cytoskeleton;Membrane NA 0 PE1 -NX_Q9Y2H2 128407 1132 6.57 10 Recycling endosome;Early endosome;Clathrin-coated pit NA 0 PE1 -NX_Q9Y2H5 117128 1048 9.15 1 Microtubule organizing center;Cell junction;Cytoplasmic vesicle NA 0 PE1 -NX_Q9Y2H6 131852 1198 6.29 13 Endoplasmic reticulum;Golgi apparatus membrane NA 1 PE1 -NX_Q9Y2H8 79142 683 9.18 9 Cell membrane;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y2H9 170677 1570 8.67 19 Cytoplasmic vesicle;Cell membrane;Cytoskeleton NA 0 PE1 -NX_Q9Y2I1 166629 1504 5.04 3 Recycling endosome;Early endosome;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q9Y2I2 60541 539 5.84 1 Cell membrane;Cell membrane NA 0 PE1 -NX_Q9Y2I6 156344 1382 5.01 20 Cytoskeleton;Cytoplasm;Cytosol;Centrosome NA 0 PE1 -NX_Q9Y2I7 237136 2098 6.24 2 Endosome membrane;Nucleus speckle Corneal dystrophy, fleck 0 PE1 -NX_Q9Y2I8 54665 494 6.79 10 Cytoplasm;Cytosol;Cytoskeleton;Centrosome NA 0 PE1 -NX_Q9Y2I9 102743 924 8.57 12 Cytosol;Cell membrane;Cell membrane NA 0 PE1 -NX_Q9Y2J0 76872 694 8.62 12 Membrane;Synapse NA 0 PE1 -NX_Q9Y2J2 120678 1087 5.09 18 Cell membrane;Cytoskeleton;Cell junction;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q9Y2J4 85764 779 6.81 3 Recycling endosome;Centrosome;Cell junction NA 0 PE1 -NX_Q9Y2J8 75564 665 5.4 1 Cytoplasm NA 0 PE1 -NX_Q9Y2K1 82016 713 5.97 14 Nucleoplasm;Nucleus membrane;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9Y2K2 139980 1263 6.22 11 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9Y2K3 224619 1946 5.67 3 Centrosome;Myofibril;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q9Y2K5 106999 976 8.99 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y2K6 102003 914 5.75 9 Cytosol;Centrosome;Perinuclear region;Cell membrane;Nucleus NA 0 PE1 -NX_Q9Y2K7 132793 1162 7.73 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y2K9 131887 1186 6.51 3 Cytoplasm;Membrane;Cell membrane NA 0 PE1 -NX_Q9Y2L1 109003 958 6.69 13 Nucleus;Cytosol;Cytoplasm;Nucleolus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y2L5 160997 1435 6.41 18 Nucleus;Cytoplasm;Cytoskeleton;cis-Golgi network;Cytosol NA 0 PE1 -NX_Q9Y2L6 118047 1034 8.79 3 Cytoskeleton;Adherens junction;Tight junction NA 0 PE1 -NX_Q9Y2L8 96903 839 7.43 7 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q9Y2L9 80875 728 5.59 13 Cytoskeleton;Cytoplasm;Nucleolus;Cytosol NA 0 PE1 -NX_Q9Y2M0 114225 1017 7.1 15 Nucleoplasm;Nucleus;Cytoskeleton;Cytosol Interstitial nephritis, karyomegalic 0 PE1 -NX_Q9Y2M2 39845 353 9.26 3 Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y2M5 67955 609 6.45 1 Axon;Cytosol;Dendrite;trans-Golgi network;Nucleus;Perinuclear region;Golgi apparatus NA 0 PE1 -NX_Q9Y2N7 72433 669 5.67 19 Cell membrane;Cytosol;Cytoplasm;Nucleus;Nucleoplasm;Nucleus speckle;Mitochondrion NA 0 PE1 -NX_Q9Y2P0 59631 537 8.88 19 Nucleus;Cytoskeleton NA 0 PE1 -NX_Q9Y2P4 70112 619 8.75 5 Nucleus;Sarcolemma;Membrane NA 2 PE1 -NX_Q9Y2P5 75385 690 7.8 19 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q9Y2P7 71871 627 9.12 19 Nucleus;Nucleus NA 0 PE1 -NX_Q9Y2P8 40843 373 9.36 9 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q9Y2Q0 131369 1164 6.41 4 Cytoplasmic granule;Chromaffin granule membrane;Golgi apparatus;Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane NA 10 PE1 -NX_Q9Y2Q1 65779 563 9.23 19 Nucleus NA 0 PE1 -NX_Q9Y2Q3 25497 226 8.51 7 Nucleus;Cytoplasm;Peroxisome;Peroxisome NA 0 PE1 -NX_Q9Y2Q5 13508 125 5.3 1 Cytoplasm;Cytoplasmic vesicle;Lysosome membrane;Late endosome membrane;Nucleoplasm Immunodeficiency due to defect in MAPBP-interacting protein 0 PE1 -NX_Q9Y2Q9 20843 187 9.22 8 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9Y2R0 11731 106 9.59 17 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_Q9Y2R2 91705 807 7.5 1 Nucleoplasm;Cytoplasmic vesicle;Cytoplasm;Cell membrane Rheumatoid arthritis;Systemic lupus erythematosus;Vitiligo;Diabetes mellitus, insulin-dependent 0 PE1 -NX_Q9Y2R4 67498 599 9.69 17 Nucleolus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y2R5 14502 130 9.87 7 Mitochondrion NA 0 PE1 -NX_Q9Y2R9 28134 242 10 17 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9Y2S2 35419 319 5.81 13 Cell membrane;Golgi apparatus;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y2S6 7066 64 10 3 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q9Y2S7 42033 368 8.8 17 Mitochondrion;Nucleus;Mitochondrion NA 0 PE1 -NX_Q9Y2T1 93558 843 7.82 17 Cytoplasm;Nucleus;Cytosol;Cell membrane Colorectal cancer;Oligodontia-colorectal cancer syndrome 0 PE1 -NX_Q9Y2T2 46939 418 6.47 10 Golgi apparatus;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q9Y2T3 51003 454 5.44 9 Nucleus NA 0 PE1 -NX_Q9Y2T4 51515 447 5.92 4 NA NA 0 PE1 -NX_Q9Y2T5 41354 361 8.45 1 Cell membrane NA 7 PE2 -NX_Q9Y2T6 36637 319 8.8 2 Cell membrane NA 7 PE1 -NX_Q9Y2T7 38518 364 10.8 17 Nucleus;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q9Y2U2 31947 307 6.7 11 Membrane;Cell membrane NA 4 PE2 -NX_Q9Y2U5 69741 619 8.04 2 Nucleus;Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9Y2U8 99997 911 7.32 12 Nucleus membrane;Nucleus inner membrane Melorheostosis;Buschke-Ollendorff syndrome 2 PE1 -NX_Q9Y2U9 46099 406 6.13 14 Nucleoplasm;Nucleus;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9Y2V0 32264 281 6.15 15 Nucleoplasm Anemia, congenital dyserythropoietic, 1B 0 PE1 -NX_Q9Y2V2 15892 147 8.41 16 Cytoplasm;P-body;Cytoplasmic granule NA 0 PE1 -NX_Q9Y2V3 36676 346 9.11 18 Nucleus Microphthalmia, isolated, 3 0 PE1 -NX_Q9Y2V7 73279 657 5.51 13 Golgi apparatus membrane;Nucleus speckle;Golgi apparatus Congenital disorder of glycosylation 2L;Shaheen syndrome 0 PE1 -NX_Q9Y2W1 108666 955 10.16 1 Nucleus;Nucleoplasm;Nucleus speckle;Nucleus speckle NA 0 PE1 -NX_Q9Y2W2 69998 641 8.28 12 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9Y2W3 84541 782 8.01 1 Membrane Intellectual developmental disorder with neuropsychiatric features 12 PE1 -NX_Q9Y2W6 62046 561 4.91 1 Cytosol;Cytoplasm;Centrosome;Mitochondrion NA 0 PE1 -NX_Q9Y2W7 29231 256 5.23 2 Cytoplasm;Cell membrane;Endoplasmic reticulum;Golgi apparatus;Nucleus NA 0 PE1 -NX_Q9Y2X0 96793 877 7.12 19 Nucleus;Nucleolus NA 0 PE1 -NX_Q9Y2X3 59578 529 9.03 2 Nucleolus;Nucleus;Nucleolus;Nucleoplasm NA 0 PE1 -NX_Q9Y2X7 84341 761 6.33 17 Cytoplasm;Cytosol;Focal adhesion NA 0 PE1 -NX_Q9Y2X8 16649 147 6.88 7 NA NA 0 PE1 -NX_Q9Y2X9 96915 895 8.71 1 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9Y2Y0 18822 163 4.23 16 Mitochondrion intermembrane space;Cilium basal body;Spindle;Centrosome;Nucleus;Cytoplasm Retinitis pigmentosa with or without situs inversus 0 PE1 -NX_Q9Y2Y1 12336 108 8.05 16 Nucleus;Nucleolus;Cytosol NA 0 PE1 -NX_Q9Y2Y4 52963 487 9.36 19 Nucleus NA 0 PE1 -NX_Q9Y2Y6 24611 226 4.81 17 Endosome;Membrane;Nucleoplasm Nanophthalmos 4 1 PE1 -NX_Q9Y2Y8 25406 225 4.69 11 Cytoplasmic granule NA 0 PE1 -NX_Q9Y2Y9 31180 288 9.63 15 Nucleus NA 0 PE1 -NX_Q9Y2Z0 41024 365 5.07 13 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane;Nucleus NA 0 PE1 -NX_Q9Y2Z2 79964 717 8.59 6 Cytosol;Mitochondrion;Nucleoplasm Combined oxidative phosphorylation deficiency 10 0 PE1 -NX_Q9Y2Z4 53199 477 9.07 12 Mitochondrion;Nucleus;Mitochondrion;Mitochondrion matrix Myopathy with lactic acidosis and sideroblastic anemia 2 0 PE1 -NX_Q9Y2Z9 50870 468 6.81 14 Cell projection;Golgi apparatus;Mitochondrion inner membrane Coenzyme Q10 deficiency, primary, 6 0 PE1 -NX_Q9Y303 43748 409 6.21 16 Cytosol;Nucleolus NA 0 PE1 -NX_Q9Y305 49902 439 8.81 X Cytosol;Mitochondrion;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q9Y312 43472 384 5.66 20 Cytosol NA 0 PE1 -NX_Q9Y314 33172 301 9.05 19 Cytoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q9Y315 35231 318 9.08 12 Cytoplasm;Cytoplasmic granule;Nucleus;Nucleus NA 0 PE1 -NX_Q9Y316 33733 297 6.66 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q9Y320 34038 296 8.9 11 Cytosol;Nucleoplasm;Membrane NA 1 PE1 -NX_Q9Y324 23370 198 9.74 14 Nucleolus;Nucleoplasm NA 0 PE1 -NX_Q9Y328 19085 171 9.42 5 Golgi apparatus;Cytoplasmic vesicle membrane;Golgi stack membrane;Multivesicular body membrane NA 1 PE1 -NX_Q9Y330 49148 459 7.26 6 Nucleus NA 0 PE1 -NX_Q9Y333 10835 95 6.05 6 Nucleus;Nucleus NA 0 PE1 -NX_Q9Y334 96060 891 5.74 6 Secreted;Cell membrane;Cytosol NA 0 PE1 -NX_Q9Y336 50082 463 6.86 19 Membrane NA 1 PE1 -NX_Q9Y337 32020 293 8.64 19 Secreted NA 0 PE1 -NX_Q9Y342 19987 182 9.43 16 Membrane NA 4 PE1 -NX_Q9Y343 19818 169 6.71 5 Cytoplasmic vesicle membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q9Y345 87434 797 7.68 11 Cell membrane Hyperekplexia 3 12 PE1 -NX_Q9Y365 33049 291 6.67 11 Flagellum;Cytoplasm;Membrane NA 0 PE1 -NX_Q9Y366 49706 437 5.14 20 Cilium;Cytosol Short-rib thoracic dysplasia 16 with or without polydactyly 0 PE1 -NX_Q9Y371 40796 365 5.78 1 Cytoplasm;Cytosol;Midbody;Cytoplasm;Golgi apparatus membrane;Mitochondrion outer membrane;Autophagosome membrane NA 0 PE1 -NX_Q9Y375 37764 327 7.11 15 Mitochondrion;Cytosol NA 0 PE1 -NX_Q9Y376 39869 341 6.43 2 Cytoplasm;Cytoplasm;Cytosol;Nucleolus NA 0 PE1 -NX_Q9Y383 46514 392 10.02 7 Nucleus;Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_Q9Y385 35199 318 6.26 6 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9Y388 37336 322 9.84 X Nucleolus;Nucleus membrane NA 0 PE1 -NX_Q9Y394 38299 339 8.59 14 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q9Y397 40916 364 8.12 X Endoplasmic reticulum membrane;Golgi apparatus;Cytosol;Golgi apparatus membrane Mental retardation, X-linked, syndromic, ZDHHC9-related 4 PE1 -NX_Q9Y399 33249 296 9.37 9 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9Y3A0 29657 265 9.29 9 Mitochondrion;Mitochondrion inner membrane Coenzyme Q10 deficiency, primary, 7 0 PE1 -NX_Q9Y3A2 30447 253 10.16 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y3A3 26032 225 5.5 2 Golgi apparatus;Membrane;Golgi stack membrane;Perinuclear region NA 0 PE1 -NX_Q9Y3A4 32334 280 9.61 22 NA NA 0 PE1 -NX_Q9Y3A5 28764 250 8.91 7 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus;Spindle Shwachman-Diamond syndrome 0 PE1 -NX_Q9Y3A6 26005 229 4.71 1 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE1 -NX_Q9Y3B1 21495 194 6.24 20 Nucleus NA 0 PE1 -NX_Q9Y3B2 21452 195 8.51 10 Nucleolus;Nucleus;Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y3B3 25172 224 6.43 5 COPII-coated vesicle membrane;COPI-coated vesicle membrane;Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE1 -NX_Q9Y3B4 14585 125 9.41 2 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y3B6 23061 208 5.53 14 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q9Y3B7 20683 192 9.91 11 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9Y3B8 26833 237 6.4 11 Nucleus;Focal adhesion;Cytoplasm;Nucleus;Mitochondrion matrix;Mitochondrion intermembrane space;Mitochondrion;Nucleolus NA 0 PE1 -NX_Q9Y3B9 31484 282 5.39 1 Cytoplasm;Nucleolus;Nucleus;Mitochondrion NA 0 PE1 -NX_Q9Y3C0 21173 194 4.35 12 Cytoplasmic vesicle;Early endosome NA 0 PE1 -NX_Q9Y3C1 21188 178 9.94 5 Nucleolus;Nucleolus NA 0 PE1 -NX_Q9Y3C4 19661 175 6.31 2 Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9Y3C5 17444 154 4.64 1 Recycling endosome;Cytoplasm;Nucleus;Early endosome NA 0 PE1 -NX_Q9Y3C6 18237 166 7.78 6 Nucleolus NA 0 PE1 -NX_Q9Y3C7 15805 131 8.72 17 Nucleus;Nucleus NA 0 PE1 -NX_Q9Y3C8 19458 167 6.91 1 Nucleus speckle;Cytosol NA 0 PE1 -NX_Q9Y3D0 17663 163 5.07 16 Nucleoplasm;Cytosol;Nucleus;Spindle NA 0 PE1 -NX_Q9Y3D2 19536 182 8.95 10 Mitochondrion NA 0 PE1 -NX_Q9Y3D3 15345 137 9.59 10 Cytosol;Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 2 0 PE1 -NX_Q9Y3D5 15850 142 9.63 4 Mitochondrion NA 0 PE1 -NX_Q9Y3D6 16938 152 8.84 7 Mitochondrion outer membrane;Mitochondrion;Peroxisome membrane NA 1 PE1 -NX_Q9Y3D7 13825 125 9.69 16 Mitochondrion inner membrane Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 0 PE1 -NX_Q9Y3D8 20061 172 4.48 5 Nucleoplasm;Cajal body;Nucleoplasm NA 0 PE1 -NX_Q9Y3D9 21771 190 8.94 17 Mitochondrion;Nucleus membrane;Mitochondrion NA 0 PE1 -NX_Q9Y3E0 15426 138 10.36 12 Endoplasmic reticulum;Cytoplasmic vesicle;Golgi apparatus membrane NA 4 PE1 -NX_Q9Y3E1 22620 203 7.7 15 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9Y3E2 14289 137 7.82 1 Mitochondrion NA 0 PE1 -NX_Q9Y3E5 19194 179 8.95 17 Mitochondrion;Mitochondrion Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 0 PE1 -NX_Q9Y3E7 25073 222 5.1 2 Cytosol;Membrane;Endosome;Late endosome membrane NA 0 PE1 -NX_Q9Y3F1 6535 56 4.49 6 NA NA 0 PE5 -NX_Q9Y3F4 38438 350 4.98 12 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y3I0 55210 505 6.77 22 Cytosol;Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9Y3I1 58503 522 6.11 22 Cytoplasm;Nucleus;Cytosol;Cytosol;Nucleus;Cytoplasm;Nucleus;Mitochondrion Parkinson disease 15 0 PE1 -NX_Q9Y3L3 75713 701 6.33 22 Cytosol;Adherens junction;Phagocytic cup;Nucleus;Cytosol;Cell projection;Tight junction NA 0 PE1 -NX_Q9Y3L5 20745 183 4.87 X Recycling endosome membrane;Cytoplasm NA 0 PE1 -NX_Q9Y3M2 14470 126 9.09 22 Cilium basal body;trans-Golgi network;Nucleus speckle;Centriole;Golgi apparatus NA 0 PE1 -NX_Q9Y3M8 124967 1113 6.57 13 Cytoplasm;Lipid droplet;Mitochondrion membrane;Membrane;Cytosol;Nucleolus;Nucleus membrane NA 0 PE1 -NX_Q9Y3M9 86875 751 9.74 20 Nucleus speckle;Cell membrane;Nucleus NA 0 PE1 -NX_Q9Y3N9 36101 320 9.24 6 Cell membrane NA 7 PE2 -NX_Q9Y3P4 40484 386 6.1 22 Cytoskeleton;Membrane NA 5 PE1 -NX_Q9Y3P8 21126 196 5.91 9 Cell membrane NA 1 PE1 -NX_Q9Y3P9 121737 1069 5.15 9 Cytosol;Cytosol;Centrosome NA 0 PE1 -NX_Q9Y3Q0 83592 740 8.56 11 Nucleus;Cell membrane NA 1 PE1 -NX_Q9Y3Q3 24777 217 5.4 15 cis-Golgi network membrane;Golgi stack membrane;Endoplasmic reticulum membrane;Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment membrane;COPI-coated vesicle membrane NA 1 PE1 -NX_Q9Y3Q4 129042 1203 9.07 15 Cell membrane Sick sinus syndrome 2;Brugada syndrome 8 6 PE1 -NX_Q9Y3Q7 82856 739 7.16 8 Membrane NA 1 PE1 -NX_Q9Y3Q8 41026 395 6.69 7 Nucleus;Cytosol NA 0 PE1 -NX_Q9Y3R0 122422 1128 6.03 12 Cytoplasmic vesicle;Endoplasmic reticulum;Postsynaptic cell membrane Fraser syndrome 0 PE1 -NX_Q9Y3R4 42254 380 6.39 2 Cytoplasm NA 0 PE1 -NX_Q9Y3R5 258230 2298 5.9 21 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q9Y3S1 242676 2297 5.79 9 Cell membrane;Cytosol;Cytoplasm NA 0 PE1 -NX_Q9Y3S2 36201 320 5.79 4 Nucleus;Nucleolus;Centromere;Nucleolus NA 0 PE1 -NX_Q9Y3T6 49092 440 5.47 8 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9Y3T9 84919 749 5.46 1 Nucleus;Nucleolus;Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q9Y3U8 12254 105 11.59 19 Nucleus;Nucleolus;Cytoplasm;Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_Q9Y3V2 30543 267 5.81 1 Nucleus;Cytoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9Y3X0 59703 531 5.32 19 Cytoplasm;Cytosol NA 0 PE1 -NX_Q9Y3Y2 26397 248 12.24 1 Nucleus speckle;Nucleus;Nucleus speckle;Nucleolus;Nucleoplasm NA 0 PE1 -NX_Q9Y3Y4 45116 419 6.38 15 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y3Z3 72201 626 6.69 20 Nucleus;Nucleoplasm;Cell membrane;Nucleus Chilblain lupus 2;Aicardi-Goutieres syndrome 5 0 PE1 -NX_Q9Y421 13178 112 9.99 19 Nucleus;Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y426 75533 696 6.47 21 Membrane;Nucleoplasm NA 1 PE1 -NX_Q9Y442 17735 160 8.46 22 Membrane NA 1 PE2 -NX_Q9Y446 87082 797 9.39 11 Nucleoplasm;Cytosol;Desmosome;Cell junction;Nucleus NA 0 PE1 -NX_Q9Y448 35438 316 5.98 15 Kinetochore;Cytosol;Nucleus;Cytoskeleton;Spindle pole NA 0 PE1 -NX_Q9Y450 75473 684 6.17 6 Nucleus;Cytosol NA 0 PE1 -NX_Q9Y458 57910 520 6.92 X Nucleus Abruzzo-Erickson syndrome;Cleft palate with or without ankyloglossia, X-linked 0 PE1 -NX_Q9Y462 86245 761 6.4 X Nucleoplasm;Nucleus Mental retardation, X-linked 97 0 PE1 -NX_Q9Y463 69198 629 9.25 19 Nucleus;Nucleus Abdominal obesity-metabolic syndrome 3 0 PE1 -NX_Q9Y466 42589 385 9.18 6 Nucleus;Nucleus NA 0 PE1 -NX_Q9Y467 105309 1007 5.89 14 Nucleus;Nucleus;Cytoplasmic vesicle Coloboma, ocular, autosomal recessive 0 PE1 -NX_Q9Y468 83884 752 5.6 20 Nucleus;Cell membrane;Nucleus NA 0 PE1 -NX_Q9Y471 58380 501 5.96 6 Cytoplasm NA 0 PE1 -NX_Q9Y473 81609 711 8.98 19 Cytosol;Cytoplasm;Nucleus;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q9Y478 30382 270 5.94 12 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9Y483 67106 593 8.98 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y484 39868 360 6.74 X Nucleolus Neurodegeneration with brain iron accumulation 5 0 PE1 -NX_Q9Y485 337839 3027 5.91 5 Cytosol;Nucleolus NA 0 PE1 -NX_Q9Y487 98082 856 6.18 12 Cell membrane;Cell membrane;Endosome membrane;Cytosol Cutis laxa, autosomal recessive, 2A;Wrinkly skin syndrome 8 PE1 -NX_Q9Y490 269767 2541 5.77 9 Microtubule organizing center;Cytosol;Cell membrane;Focal adhesion;Ruffle membrane;Cytoskeleton;Cell surface;Focal adhesion NA 0 PE1 -NX_Q9Y493 305663 2812 5.77 7 Cell membrane NA 1 PE2 -NX_Q9Y496 80041 699 6.16 5 Cytoskeleton;Cytoskeleton;Cilium;Centriole;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9Y4A0 59912 524 8.26 11 Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q9Y4A5 437600 3859 8.49 7 Golgi apparatus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y4A8 76154 694 5.21 7 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q9Y4A9 35254 318 9.07 19 Cell membrane NA 7 PE2 -NX_Q9Y4B4 162769 1467 5.75 3 Nucleus;Nucleus;Cytosol NA 0 PE1 -NX_Q9Y4B5 209526 1905 6.03 18 Spindle pole;Midbody;Nucleoplasm;Cytoskeleton;Cytoskeleton;Lateral cell membrane;Apical cell membrane NA 0 PE1 -NX_Q9Y4B6 169007 1507 4.92 3 Cytoplasm;Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y4C0 180599 1643 5.33 14 Membrane NA 1 PE1 -NX_Q9Y4C1 147341 1321 8.4 2 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y4C2 102126 921 6.12 7 Cell membrane;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q9Y4C4 116950 1052 8.02 8 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9Y4C5 57857 530 10 3 trans-Golgi network membrane;Golgi apparatus NA 1 PE1 -NX_Q9Y4C8 107332 960 6.13 12 Nucleolus;Nucleoplasm;Cytoplasm;Chromosome;Nucleolus NA 0 PE1 -NX_Q9Y4D1 123473 1078 6.81 14 Cilium basal body;Cytoplasm;Cell membrane;Cytosol NA 0 PE1 -NX_Q9Y4D2 114952 1042 5.95 11 Cell membrane Spinocerebellar ataxia 20 4 PE1 -NX_Q9Y4D7 212007 1925 6.8 3 Lamellipodium membrane;Cell membrane NA 1 PE1 -NX_Q9Y4D8 439344 3996 5.82 12 Nucleoplasm;Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q9Y4E1 144668 1318 4.67 10 Cell membrane;Early endosome membrane NA 0 PE1 -NX_Q9Y4E5 121484 1061 6.3 6 Nucleus;PML body;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y4E6 163810 1490 6.47 18 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q9Y4E8 112419 981 5.06 12 Cytosol;Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y4F1 118633 1045 8.33 13 Cytosol;Cell membrane;Synapse;Synaptosome;Cytosol;Filopodium;Dendrite;Dendritic spine NA 0 PE1 -NX_Q9Y4F3 192859 1742 8.14 16 Cytoplasmic vesicle;Golgi apparatus;Peroxisome NA 0 PE1 -NX_Q9Y4F4 189360 1720 8.73 14 Nucleoplasm;Cilium;Cytoskeleton NA 0 PE1 -NX_Q9Y4F5 171688 1589 6.39 14 Cytosol;Centrosome;Cytoskeleton NA 0 PE1 -NX_Q9Y4F9 118519 1068 5.29 6 Apical cell membrane;Stereocilium membrane;Stereocilium;Filopodium;Cytoskeleton;Cytoplasm Deafness, autosomal recessive, 104 0 PE1 -NX_Q9Y4G2 117443 1056 6.08 17 Nucleolus;Cytoplasmic vesicle;Cytoplasm;Endosome membrane;Lysosome;Lysosome membrane Osteopetrosis, autosomal recessive 6 0 PE1 -NX_Q9Y4G6 271613 2542 5.4 15 Cytoplasm;Focal adhesion;Synapse;Cytosol;Focal adhesion;Cytoplasm;Cell membrane;Cytoskeleton NA 0 PE1 -NX_Q9Y4G8 167417 1499 6.21 4 Centrosome;Nucleoplasm;Cytoplasm;Perinuclear region;Cell junction;Late endosome;Cell membrane NA 0 PE1 -NX_Q9Y4H2 137334 1338 8.9 13 Cytosol;Cytosol NA 0 PE1 -NX_Q9Y4H4 17866 160 4.95 6 Cytoplasm NA 0 PE1 -NX_Q9Y4I1 215405 1855 8.7 15 Microtubule organizing center;Focal adhesion Elejalde syndrome;Griscelli syndrome 3;Griscelli syndrome 1 0 PE1 -NX_Q9Y4I5 55025 508 5.5 11 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q9Y4J8 83901 743 6.43 18 Nucleoplasm;Cytoskeleton;Cell junction;Cell membrane;Synapse;Cytoplasm Left ventricular non-compaction 1 0 PE1 -NX_Q9Y4K0 86725 774 5.95 8 Cytoplasm;Endoplasmic reticulum;Nucleus;Chromosome;Nucleoplasm;Basement membrane NA 0 PE1 -NX_Q9Y4K1 188676 1723 5.61 6 Cytosol;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q9Y4K3 59573 522 6 11 Cytoplasm;Cell cortex;Nucleus;Lipid droplet;Nucleolus;Mitochondrion NA 0 PE1 -NX_Q9Y4K4 95040 846 7.56 14 Cell membrane;Cytosol;Cytoplasm NA 0 PE1 -NX_Q9Y4L1 111335 999 5.16 11 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q9Y4L5 33703 304 5.39 1 Cytosol;Mitochondrion;Nucleolus NA 0 PE1 -NX_Q9Y4M8 16018 146 11.24 8 NA NA 0 PE5 -NX_Q9Y4P1 44294 393 4.91 2 Nucleus;Cytoplasm;Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q9Y4P3 49798 447 9.52 7 Cytosol NA 0 PE1 -NX_Q9Y4P8 49408 454 6.04 7 Cytoplasm;Nucleoplasm;Cytosol;Preautophagosomal structure membrane NA 0 PE1 -NX_Q9Y4P9 26987 236 9.7 20 Cytoskeleton;Cilium axoneme;Cytoplasm;Flagellum NA 0 PE1 -NX_Q9Y4R7 87414 772 8.73 3 Cytoskeleton;Cilium;Cilium axoneme NA 0 PE1 -NX_Q9Y4R8 91747 837 5.54 16 Nucleus;Cytoplasm;Cytosol;Nucleus;Telomere;Cytoplasm;Membrane;Nucleus You-Hoover-Fong syndrome 0 PE1 -NX_Q9Y4U1 31728 282 7.69 1 Cytosol;Cell membrane;Nucleoplasm;Cytoplasm Methylmalonic aciduria and homocystinuria type cblC 0 PE1 -NX_Q9Y4W2 83065 734 4.64 X Cytosol;Nucleolus;Nucleoplasm;Cytoplasm;Nucleoplasm;Microtubule organizing center Wilson-Turner X-linked mental retardation syndrome 0 PE1 -NX_Q9Y4W6 88584 797 8.81 18 Mitochondrion;Mitochondrion inner membrane;Mitochondrion Spastic ataxia 5, autosomal recessive;Spinocerebellar ataxia 28 2 PE1 -NX_Q9Y4X0 35463 333 8.96 X Nucleus Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis;Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis 0 PE1 -NX_Q9Y4X1 59926 527 9.07 4 Membrane NA 1 PE1 -NX_Q9Y4X3 12618 112 8.95 9 Secreted NA 0 PE1 -NX_Q9Y4X4 44240 402 9.74 13 Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9Y4X5 64118 557 4.97 15 Nucleus;Golgi apparatus;Cajal body;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y4Y9 9937 91 4.42 7 Nucleus NA 0 PE1 -NX_Q9Y4Z0 15350 139 10.02 19 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q9Y4Z2 23077 214 9.61 10 Nucleus Diarrhea 4, malabsorptive, congenital 0 PE1 -NX_Q9Y508 25694 228 6.99 20 Nucleus;Cytoplasm;Cytosol;Nucleus;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q9Y512 51976 469 6.44 22 Mitochondrion outer membrane;Mitochondrion;Cytoplasm;Mitochondrion NA 0 PE1 -NX_Q9Y519 45562 407 6.45 22 Membrane;Cytosol;Golgi apparatus;Nucleoplasm NA 7 PE1 -NX_Q9Y520 316911 2896 9.17 1 Cytosol NA 0 PE1 -NX_Q9Y530 17025 152 8.55 6 Nucleus;Nucleolus NA 0 PE1 -NX_Q9Y534 16786 153 7.02 22 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9Y535 22918 204 4.47 22 Nucleoplasm;Centrosome;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q9Y536 18182 164 9.32 1 Cytoplasm NA 0 PE1 -NX_Q9Y543 18470 173 9.88 1 Nucleus NA 0 PE2 -NX_Q9Y546 48571 428 7.2 1 Nucleoplasm NA 0 PE1 -NX_Q9Y547 16297 144 4.93 1 Cytosol;Cilium;Nucleoplasm NA 0 PE1 -NX_Q9Y548 34277 306 5.13 1 Endoplasmic reticulum;Nucleoplasm;cis-Golgi network membrane;trans-Golgi network membrane;Late endosome membrane NA 5 PE1 -NX_Q9Y561 94984 859 5.07 8 Nucleolus;Cell membrane;Mitochondrion;Membrane;Coated pit NA 1 PE1 -NX_Q9Y566 224959 2161 8.29 19 Cell membrane;Cytoplasm;Postsynaptic density;Synapse NA 0 PE1 -NX_Q9Y570 42315 386 5.67 11 Nucleus NA 0 PE1 -NX_Q9Y572 56887 518 6.08 14 Cytosol;Cell membrane;Mitochondrion NA 0 PE1 -NX_Q9Y573 65261 584 5.49 1 Cytoskeleton NA 0 PE1 -NX_Q9Y574 48195 426 7.57 7 NA NA 0 PE2 -NX_Q9Y575 57745 518 5.84 2 NA NA 0 PE1 -NX_Q9Y576 37014 335 8.55 2 Nucleoplasm NA 0 PE1 -NX_Q9Y577 54418 477 6.62 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q9Y580 30504 266 9.56 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y581 24860 213 9.71 9 Secreted NA 0 PE1 -NX_Q9Y584 20031 194 7.51 17 Mitochondrion inner membrane NA 3 PE1 -NX_Q9Y585 34396 309 8.81 17 Cell membrane NA 7 PE2 -NX_Q9Y586 40923 359 8.87 4 Cytoplasm;Nucleus Microphthalmia, syndromic, 14 0 PE1 -NX_Q9Y587 17005 144 5.08 14 trans-Golgi network membrane Spastic paraplegia 52, autosomal recessive 0 PE1 -NX_Q9Y592 82059 693 5.95 12 Golgi apparatus;Centriole;Nucleus Nephronophthisis 18 0 PE1 -NX_Q9Y597 88984 815 6.58 1 Cytosol;Cell membrane NA 0 PE1 -NX_Q9Y5A6 53658 473 7.81 7 Nucleus;Endoplasmic reticulum;Nucleus NA 0 PE1 -NX_Q9Y5A7 70538 615 5.71 7 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q9Y5A9 62334 579 8.87 1 Cytoplasm;Cytosol;Cytosol;Nucleus;P-body NA 0 PE1 -NX_Q9Y5B0 104399 961 5.17 18 Nucleus;Cytoskeleton;Centrosome;Spindle pole;Midbody;Nucleus speckle Congenital cataracts, facial dysmorphism, and neuropathy 0 PE1 -NX_Q9Y5B6 104804 917 5.52 21 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9Y5B8 42492 376 6.03 1 Mitochondrion NA 0 PE1 -NX_Q9Y5B9 119914 1047 5.5 14 Nucleus;Chromosome;Nucleus;Nucleolus NA 0 PE1 -NX_Q9Y5C1 53637 460 6.24 1 Secreted;Lamellipodium Hypobetalipoproteinemia, familial, 2 0 PE1 -NX_Q9Y5E1 87099 797 4.88 5 Cell membrane NA 1 PE2 -NX_Q9Y5E2 86707 793 4.9 5 Cell membrane NA 1 PE2 -NX_Q9Y5E3 87350 794 4.89 5 Cytosol;Nucleus;Cell membrane;Cell membrane NA 1 PE2 -NX_Q9Y5E4 86423 795 4.87 5 Cell membrane NA 1 PE1 -NX_Q9Y5E5 87270 795 5.05 5 Cell membrane;Cytoskeleton;Cell membrane;Cytosol NA 1 PE2 -NX_Q9Y5E6 86773 796 4.88 5 Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_Q9Y5E7 87254 798 4.76 5 Nucleoplasm;Cell membrane NA 1 PE1 -NX_Q9Y5E8 86329 787 4.74 5 Cell membrane NA 1 PE1 -NX_Q9Y5E9 87548 798 4.81 5 Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_Q9Y5F0 87552 798 4.81 5 Cell membrane NA 1 PE1 -NX_Q9Y5F1 86770 795 4.72 5 Cell membrane NA 1 PE2 -NX_Q9Y5F2 87088 797 4.74 5 Cell membrane NA 1 PE1 -NX_Q9Y5F3 90491 818 5.2 5 Cell membrane NA 1 PE2 -NX_Q9Y5F6 101921 944 4.85 5 Nucleoplasm;Cell membrane NA 1 PE1 -NX_Q9Y5F7 101214 938 5.16 5 Golgi apparatus;Cell membrane NA 1 PE1 -NX_Q9Y5F8 100974 929 4.94 5 Cell membrane NA 1 PE1 -NX_Q9Y5F9 101043 930 5.09 5 Cell membrane NA 1 PE2 -NX_Q9Y5G0 99875 923 4.92 5 Cell membrane NA 1 PE1 -NX_Q9Y5G1 101204 929 4.87 5 Cell membrane NA 1 PE1 -NX_Q9Y5G2 100875 931 4.89 5 Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_Q9Y5G3 100360 927 4.92 5 Cell membrane;Focal adhesion;Cell membrane;Midbody NA 1 PE2 -NX_Q9Y5G4 101687 932 4.91 5 Cell membrane NA 1 PE2 -NX_Q9Y5G5 101480 932 5.1 5 Cell membrane NA 1 PE2 -NX_Q9Y5G6 101722 932 4.73 5 Cell junction;Cell membrane;Cell membrane NA 1 PE2 -NX_Q9Y5G7 100871 932 4.75 5 Cell membrane NA 1 PE1 -NX_Q9Y5G8 100935 931 4.71 5 Cell membrane NA 1 PE2 -NX_Q9Y5G9 103968 962 4.79 5 Cell membrane NA 1 PE1 -NX_Q9Y5H0 100971 932 4.86 5 Cell membrane;Nucleoplasm;Centrosome NA 1 PE2 -NX_Q9Y5H1 101484 932 4.85 5 Cell membrane NA 1 PE1 -NX_Q9Y5H2 101543 935 4.81 5 Cell membrane NA 1 PE1 -NX_Q9Y5H3 101447 936 4.78 5 Cell membrane NA 1 PE2 -NX_Q9Y5H4 101226 931 4.87 5 Cell membrane NA 1 PE2 -NX_Q9Y5H5 102402 950 4.94 5 Cell membrane NA 1 PE2 -NX_Q9Y5H6 103051 950 5.13 5 Cell membrane NA 1 PE2 -NX_Q9Y5H7 102048 936 5.28 5 Cell membrane NA 1 PE1 -NX_Q9Y5H8 102428 950 4.95 5 Cell membrane NA 1 PE2 -NX_Q9Y5H9 102063 948 5.08 5 Cell membrane NA 1 PE1 -NX_Q9Y5I0 102483 950 5.08 5 Cell membrane NA 1 PE2 -NX_Q9Y5I1 103298 949 5.22 5 Cell membrane;Cell junction;Cytoplasmic vesicle NA 1 PE2 -NX_Q9Y5I2 102875 948 5.04 5 Cell membrane;Secreted NA 1 PE2 -NX_Q9Y5I3 102952 950 5.03 5 Secreted;Cell membrane;Cell membrane NA 1 PE2 -NX_Q9Y5I4 109450 1007 5.26 5 Cell membrane;Mitochondrion;Nucleoplasm NA 1 PE1 -NX_Q9Y5I7 33836 305 8.26 3 Cell membrane;Tight junction Hypomagnesemia 3 4 PE1 -NX_Q9Y5J1 62004 556 8.93 17 Nucleolus;Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 -NX_Q9Y5J3 32613 304 8.99 8 Nucleoplasm;Nucleus membrane;Cytosol;Nucleus NA 0 PE1 -NX_Q9Y5J5 13891 127 9.72 1 Membrane;Cytoplasm NA 0 PE1 -NX_Q9Y5J6 11586 103 6.95 11 Mitochondrion inner membrane NA 0 PE1 -NX_Q9Y5J7 10378 89 6.71 14 Mitochondrion inner membrane;Mitochondrion NA 0 PE1 -NX_Q9Y5J9 9344 83 5.02 11 Mitochondrion inner membrane NA 0 PE1 -NX_Q9Y5K1 44537 396 9.05 20 Nucleus NA 0 PE2 -NX_Q9Y5K2 27032 254 4.8 19 Secreted Amelogenesis imperfecta, hypomaturation type, 2A1 0 PE1 -NX_Q9Y5K3 41940 369 5.99 X Endoplasmic reticulum NA 0 PE1 -NX_Q9Y5K5 37607 329 5.23 1 Cytoplasm;Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q9Y5K6 71451 639 6.07 6 Cytoplasm;Cytosol;Cytoskeleton;Cell junction;Cell membrane;Ruffle Focal segmental glomerulosclerosis 3 0 PE1 -NX_Q9Y5K8 28263 247 9.36 14 Nucleoplasm;Membrane NA 0 PE1 -NX_Q9Y5L0 104203 923 5.35 7 Cytoplasmic vesicle;Cytoplasm;Nucleus Limb-girdle muscular dystrophy 1F 0 PE1 -NX_Q9Y5L2 6950 63 6.71 7 Nucleoplasm;Lipid droplet;Membrane;Lipid droplet;Secreted NA 1 PE1 -NX_Q9Y5L3 53665 495 8.58 9 Cell membrane;Endoplasmic reticulum membrane NA 2 PE1 -NX_Q9Y5L4 10500 95 8.42 19 Nucleolus;Mitochondrion inner membrane;Mitochondrion NA 0 PE1 -NX_Q9Y5L5 6908 61 8.61 1 NA NA 0 PE2 -NX_Q9Y5M1 11973 114 7.75 17 NA NA 0 PE4 -NX_Q9Y5M6 5321 44 9.78 1 NA NA 0 PE2 -NX_Q9Y5M8 29702 271 9.17 3 Cell membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9Y5N1 48671 445 9.43 20 Cell membrane NA 7 PE1 -NX_Q9Y5N5 22957 214 5.02 21 Nucleoplasm;Centrosome NA 0 PE1 -NX_Q9Y5N6 28107 252 8.91 16 Nucleus;Nucleus;Nucleolus Meier-Gorlin syndrome 3 0 PE1 -NX_Q9Y5P0 34912 310 8.35 11 Cell membrane NA 7 PE2 -NX_Q9Y5P1 35373 312 8.94 11 Cell membrane NA 7 PE3 -NX_Q9Y5P2 14430 127 10.33 X NA NA 0 PE2 -NX_Q9Y5P3 57180 530 5.14 X Cell membrane NA 0 PE1 -NX_Q9Y5P4 70835 624 5.29 5 Nucleoplasm;Endoplasmic reticulum;Golgi apparatus;Golgi apparatus;Cytoplasm Mental retardation, autosomal dominant 34 0 PE1 -NX_Q9Y5P6 39834 360 6.16 3 Nucleus;Cytoplasm Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14;Muscular dystrophy-dystroglycanopathy limb-girdle C14;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 0 PE1 -NX_Q9Y5P8 65061 575 5.01 X Endoplasmic reticulum;Nucleus NA 0 PE1 -NX_Q9Y5Q0 51145 445 7.42 11 Endoplasmic reticulum membrane NA 4 PE1 -NX_Q9Y5Q3 35792 323 7.17 20 Nucleolus;Nucleus;Nucleus Multicentric carpotarsal osteolysis syndrome;Duane retraction syndrome 3 with or without deafness 0 PE1 -NX_Q9Y5Q5 116486 1042 4.87 4 Cytoskeleton;Cell membrane;Nucleus;Cell membrane;Secreted;Secreted;Secreted Pre-eclampsia/eclampsia 5 1 PE1 -NX_Q9Y5Q6 15333 135 6.81 1 Secreted NA 0 PE1 -NX_Q9Y5Q8 59571 519 6.47 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y5Q9 101272 886 4.98 2 Nucleus membrane;Nucleus;Nucleus NA 0 PE1 -NX_Q9Y5R2 73231 645 9.3 20 Nucleolus;Cell membrane;Cell membrane;trans-Golgi network membrane;Extracellular matrix NA 1 PE1 -NX_Q9Y5R4 38231 338 6.22 3 Mitochondrion NA 0 PE1 -NX_Q9Y5R5 61814 561 6.37 9 Nucleus NA 0 PE2 -NX_Q9Y5R6 39473 373 7.54 9 Nucleus Testicular germ cell tumor;46,XY sex reversal 4 0 PE1 -NX_Q9Y5R8 16832 145 9.23 17 Endoplasmic reticulum;cis-Golgi network NA 0 PE1 -NX_Q9Y5S1 85981 764 5.56 17 Cell membrane;Cell membrane;Cytoplasm;Melanosome NA 6 PE1 -NX_Q9Y5S2 194315 1711 5.97 14 Cytoplasm;Cell membrane;Lamellipodium;Cytosol;Nucleus speckle;Cell junction NA 0 PE1 -NX_Q9Y5S8 64871 564 8.79 X Invadopodium membrane;Cell membrane NA 6 PE1 -NX_Q9Y5S9 19889 174 5.5 1 Nucleus;Cytoplasm;Nucleus speckle;Nucleus;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q9Y5T4 16383 150 10.08 13 Mitochondrion inner membrane NA 1 PE1 -NX_Q9Y5T5 93570 823 6.5 21 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9Y5U2 34326 329 5.07 11 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9Y5U4 24778 225 8.16 2 Endoplasmic reticulum membrane NA 5 PE1 -NX_Q9Y5U5 26000 241 5.97 1 Secreted;Cell membrane NA 1 PE1 -NX_Q9Y5U8 12347 109 9.67 6 Mitochondrion;Mitochondrion inner membrane Mitochondrial pyruvate carrier deficiency 2 PE1 -NX_Q9Y5U9 8969 82 7.96 18 Endoplasmic reticulum;Endoplasmic reticulum membrane;Endoplasmic reticulum Microcephaly, epilepsy, and diabetes syndrome 2 PE1 -NX_Q9Y5V0 8498 76 10.02 8 Cytoplasm;Cell membrane;Nucleus NA 0 PE1 -NX_Q9Y5V3 86161 778 5.64 X Cytosol;Cytoplasm;Cell membrane;Nucleus NA 0 PE1 -NX_Q9Y5W3 37420 355 9.06 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9Y5W5 41528 379 7.84 12 Secreted NA 0 PE1 -NX_Q9Y5W7 110182 946 6.28 6 Lysosome membrane;Late endosome membrane;Cytosol;Dendrite Spinocerebellar ataxia, autosomal recessive, 20 2 PE1 -NX_Q9Y5W8 112189 968 6.15 7 Early endosome membrane NA 0 PE1 -NX_Q9Y5W9 30433 270 6.61 17 Cytosol;Membrane;Endosome NA 0 PE1 -NX_Q9Y5X0 23598 201 5.5 7 Cytoskeleton;Centrosome;Nucleus;Nucleolus;Cytoplasm;Endosome membrane Osteopetrosis, autosomal recessive 8 0 PE1 -NX_Q9Y5X1 66592 595 5.4 6 Cytoplasm;Cytoplasmic vesicle membrane;Cytosol;Clathrin-coated vesicle;trans-Golgi network;Ruffle;Cytoplasm;Cell membrane;Cell membrane NA 0 PE1 -NX_Q9Y5X2 52569 465 6.96 7 Early endosome membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q9Y5X3 46816 404 6.31 20 Cell membrane;Cytoplasmic vesicle membrane;Cytoplasm;Phagocytic cup;Ruffle;Cytosol;Nucleolus;Endosome;Early endosome;Early endosome membrane NA 0 PE1 -NX_Q9Y5X4 44692 410 8.17 15 Nucleus Enhanced S cone syndrome;Retinitis pigmentosa 37 0 PE1 -NX_Q9Y5X5 60270 522 9.43 4 Cell membrane;Cytoskeleton;Cell membrane NA 7 PE1 -NX_Q9Y5X9 56795 500 8.13 18 Secreted NA 0 PE1 -NX_Q9Y5Y0 59863 555 5.72 1 Cell membrane;Mitochondrion membrane;Cell junction Posterior column ataxia with retinitis pigmentosa 12 PE1 -NX_Q9Y5Y2 28825 271 5.55 16 Cytosol;Nucleus;Microtubule organizing center;Centriole;Cilium axoneme;Cytoplasm;Centrosome;Nucleus NA 0 PE1 -NX_Q9Y5Y3 41967 372 9.45 2 Cell membrane NA 7 PE2 -NX_Q9Y5Y4 43268 395 10.52 11 Cell membrane NA 7 PE1 -NX_Q9Y5Y5 38629 336 9.85 11 Peroxisome membrane;Endoplasmic reticulum membrane Peroxisome biogenesis disorder complementation group 9;Peroxisome biogenesis disorder 8A;Peroxisome biogenesis disorder 8B 2 PE1 -NX_Q9Y5Y6 94770 855 6.11 11 Membrane;Cytoplasmic vesicle;Nucleoplasm Ichthyosis, congenital, autosomal recessive 11 1 PE1 -NX_Q9Y5Y7 35213 322 8.59 11 Membrane NA 1 PE1 -NX_Q9Y5Y9 220626 1956 5.67 3 Cell membrane Episodic pain syndrome, familial, 2 24 PE1 -NX_Q9Y5Z0 56180 518 5.05 21 Membrane;Golgi apparatus;Endoplasmic reticulum;Endosome;Cell surface NA 1 PE1 -NX_Q9Y5Z4 22875 205 4.58 6 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q9Y5Z6 37993 326 9.38 2 Golgi apparatus membrane NA 1 PE1 -NX_Q9Y5Z7 86779 792 8.75 12 Cytosol;Nucleus;Cytoplasm;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q9Y5Z9 36831 338 8.4 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Mitochondrion membrane;Cytoplasm;Nucleus;Cytoplasmic vesicle Corneal dystrophy, Schnyder type 8 PE1 -NX_Q9Y600 55023 493 6.06 12 NA NA 0 PE1 -NX_Q9Y603 38998 341 8.27 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y605 14650 127 4.69 4 Nucleus;Nucleus;Perinuclear region NA 0 PE1 -NX_Q9Y606 47470 427 8.69 12 Nucleus;Mitochondrion;Nucleus;Mitochondrion Myopathy with lactic acidosis and sideroblastic anemia 1 0 PE1 -NX_Q9Y608 82171 721 6.5 3 Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9Y613 126551 1164 6.01 16 Cytoplasm;Cytosol;Cytoskeleton;Bleb NA 0 PE1 -NX_Q9Y614 45234 415 5.32 9 Cytoskeleton NA 0 PE1 -NX_Q9Y615 48644 435 6.64 9 Cytoskeleton;Golgi apparatus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y616 67767 596 6.25 12 Cytoplasmic vesicle Asthma-related traits 5 0 PE1 -NX_Q9Y617 40423 370 7.56 9 Cytosol Phosphoserine aminotransferase deficiency;Neu-Laxova syndrome 2 0 PE1 -NX_Q9Y618 274804 2525 7.21 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y619 32736 301 9.28 13 Mitochondrion inner membrane Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 6 PE1 -NX_Q9Y620 102967 910 8.44 8 Nucleus NA 0 PE1 -NX_Q9Y623 223071 1939 5.65 17 Myofibril NA 0 PE1 -NX_Q9Y624 32583 299 8.09 1 Cell membrane;Cytoskeleton;Cell junction;Tight junction;Cell membrane NA 1 PE1 -NX_Q9Y625 62736 555 5.29 13 Cell membrane;Extracellular space;Cytoplasmic vesicle;Golgi apparatus Omodysplasia 1 0 PE1 -NX_Q9Y639 44387 398 8.11 15 Cytoskeleton;Mitochondrion;Cell membrane NA 1 PE1 -NX_Q9Y644 36424 331 9.3 17 Nucleus;Golgi apparatus membrane NA 1 PE1 -NX_Q9Y646 51888 472 5.79 8 Endoplasmic reticulum;Cytoplasmic vesicle;Golgi apparatus;Golgi apparatus;Lysosome;Secreted NA 0 PE1 -NX_Q9Y651 28580 276 9.74 13 Nucleus;Nucleus NA 0 PE1 -NX_Q9Y653 77738 693 8.79 16 Cell membrane;Membrane raft;Secreted Polymicrogyria, bilateral perisylvian, autosomal recessive;Polymicrogyria, bilateral frontoparietal 7 PE1 -NX_Q9Y657 29601 262 6.46 9 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q9Y661 49799 456 8.82 16 Golgi apparatus membrane NA 1 PE2 -NX_Q9Y662 43324 390 9.67 17 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 -NX_Q9Y663 44900 406 9.54 17 Cytoskeleton;Golgi apparatus membrane NA 1 PE1 -NX_Q9Y664 48080 436 5.12 19 Cytosol;Stereocilium;Cell membrane;Nucleoplasm;Lamellipodium;Lysosome membrane Mental retardation, autosomal recessive 41 0 PE1 -NX_Q9Y666 119106 1083 6.28 5 Cytosol;Cell membrane NA 12 PE1 -NX_Q9Y672 58121 507 8.8 1 Endoplasmic reticulum;Endoplasmic reticulum membrane Congenital disorder of glycosylation 1C 11 PE1 -NX_Q9Y673 36946 324 9.34 13 Endoplasmic reticulum membrane;Cytosol NA 1 PE1 -NX_Q9Y675 8412 71 10.58 15 Nucleus NA 0 PE1 -NX_Q9Y676 29396 258 9.47 6 Cytoplasm;Mitochondrion;Mitochondrion;Cell junction NA 0 PE1 -NX_Q9Y678 97718 874 5.32 3 Golgi apparatus;Nucleoplasm;Cytosol;Cytoplasm;Golgi apparatus membrane;COPI-coated vesicle membrane NA 0 PE1 -NX_Q9Y679 53028 476 8.37 2 Nucleoplasm;Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q9Y680 30009 259 6.09 2 Endoplasmic reticulum;Endoplasmic reticulum lumen NA 0 PE1 -NX_Q9Y689 20728 179 6.3 2 NA NA 0 PE1 -NX_Q9Y691 27130 235 8.71 3 Membrane NA 2 PE1 -NX_Q9Y692 62591 573 4.76 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y693 21598 200 7.87 13 Nucleolus;Membrane NA 3 PE1 -NX_Q9Y694 60026 548 6.57 6 Basolateral cell membrane NA 12 PE1 -NX_Q9Y696 28772 253 5.45 1 Nucleus;Cytoplasm;Cell membrane;Cytosol;Nucleus matrix;Cell membrane;Mitochondrion;Cell junction;Centrosome;Cytoplasmic vesicle membrane NA 1 PE1 -NX_Q9Y697 50196 457 8.54 20 Cytoplasm;Mitochondrion;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q9Y698 35966 323 9.13 22 Membrane;Synaptosome Mental retardation, autosomal dominant 10 4 PE1 -NX_Q9Y6A1 84881 747 8.69 9 Golgi apparatus;Endoplasmic reticulum membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1;Muscular dystrophy-dystroglycanopathy limb-girdle C1 12 PE1 -NX_Q9Y6A2 56821 500 9.15 14 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_Q9Y6A4 22774 193 9.78 16 Nucleus;Centriole;Cilium basal body;Cilium;Nucleus NA 0 PE1 -NX_Q9Y6A5 90360 838 4.97 4 Cytosol;Endoplasmic reticulum;Spindle pole;Spindle;Centrosome;Cytoplasm;Centrosome NA 0 PE1 -NX_Q9Y6A9 11805 102 9.34 3 Cell membrane;Endoplasmic reticulum;Microsome membrane;Endoplasmic reticulum membrane NA 2 PE1 -NX_Q9Y6B2 20876 187 3.89 15 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q9Y6B6 22410 198 5.76 5 Endoplasmic reticulum membrane;Golgi stack membrane Chylomicron retention disease 0 PE1 -NX_Q9Y6B7 83260 739 5.59 1 Cytoplasmic vesicle;trans-Golgi network membrane Spastic paraplegia 47, autosomal recessive 0 PE1 -NX_Q9Y6C2 106695 1016 5.1 2 Extracellular matrix NA 0 PE1 -NX_Q9Y6C5 130544 1203 6 1 Membrane Basal cell carcinoma;Medulloblastoma 12 PE2 -NX_Q9Y6C7 11024 94 10.19 3 NA NA 0 PE5 -NX_Q9Y6C9 33331 303 8.25 11 Mitochondrion;Mitochondrion inner membrane NA 3 PE1 -NX_Q9Y6D0 10645 94 10.86 3 Cytosol;Endoplasmic reticulum membrane;Cell membrane;Nucleoplasm NA 1 PE1 -NX_Q9Y6D5 202038 1785 5.93 20 Cytoplasm;Golgi apparatus;Membrane;Golgi apparatus;Perinuclear region;trans-Golgi network;Endosome;Centrosome;Dendrite;Cytoplasmic vesicle;Synapse;Cytoskeleton Periventricular nodular heterotopia 2 0 PE1 -NX_Q9Y6D6 208767 1849 5.58 8 Cytoplasm;Perinuclear region;Golgi apparatus;Membrane;Golgi apparatus;Cytosol;Nucleoplasm;Nucleus matrix;Nucleolus;Nucleus;trans-Golgi network NA 0 PE1 -NX_Q9Y6D9 83067 718 5.72 7 Cytosol;Cytoskeleton;Nucleus;Kinetochore;Nucleus envelope;Centrosome;Spindle;Spindle pole;Nucleus NA 0 PE1 -NX_Q9Y6E0 49308 443 5.49 13 Cytoplasm;Nucleolus;Cytosol;Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_Q9Y6E2 48162 419 6.26 7 Cytosol;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q9Y6E7 35188 314 9.04 12 Mitochondrion matrix NA 0 PE1 -NX_Q9Y6F1 60089 533 6.34 3 Nucleus;Centrosome;Centriole;Nucleolus;Cytosol NA 0 PE1 -NX_Q9Y6F6 96145 885 5.44 11 Cytosol;Nucleus;Sarcoplasmic reticulum;Membrane;Perinuclear region NA 1 PE1 -NX_Q9Y6F7 60524 541 9.14 Y Nucleus NA 0 PE1 -NX_Q9Y6F8 60473 540 9.21 Y Nucleus NA 0 PE1 -NX_Q9Y6F9 39721 365 9.22 2 Extracellular matrix NA 0 PE1 -NX_Q9Y6G1 10712 99 10.55 6 Endoplasmic reticulum;Nucleoplasm;Endoplasmic reticulum membrane;Mitochondrion membrane NA 3 PE1 -NX_Q9Y6G3 16661 142 8.58 12 Cell membrane;Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9Y6G5 22966 202 6.09 5 Cytosol;Cell membrane;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9Y6G9 56579 523 6.01 3 Cytosol;Centrosome;Cytoplasm;Kinetochore;Spindle pole NA 0 PE1 -NX_Q9Y6H1 15513 151 9.43 7 Nucleus;Mitochondrion;Mitochondrion intermembrane space Parkinson disease 22 0 PE1 -NX_Q9Y6H3 28081 246 8.3 12 Cytoplasmic vesicle;Cytosol;Cell junction;Cell membrane NA 0 PE1 -NX_Q9Y6H5 100409 919 5.96 5 Cytoplasm;Cytosol Parkinson disease 0 PE1 -NX_Q9Y6H6 11710 103 8.82 11 Cell membrane;Cytoplasm;Perikaryon;Dendrite;Membrane raft NA 1 PE1 -NX_Q9Y6H8 47410 435 6.15 13 Cell membrane;Gap junction Cataract 14, multiple types 4 PE1 -NX_Q9Y6I0 16972 156 5.86 7 NA NA 0 PE3 -NX_Q9Y6I3 60293 576 4.72 19 Cytosol;Cytoplasm;Cell membrane;Nucleus;Clathrin-coated pit NA 0 PE1 -NX_Q9Y6I4 58897 520 8.54 15 Nucleus;Nucleus NA 0 PE1 -NX_Q9Y6I7 47432 421 7.63 17 Nucleus;Cytoplasm;Mitochondrion NA 0 PE1 -NX_Q9Y6I8 24264 212 10.07 20 Peroxisome;Nucleolus;Peroxisome;Peroxisome membrane NA 2 PE1 -NX_Q9Y6I9 34189 313 4.79 3 Secreted;Cytosol;Nucleolus NA 0 PE1 -NX_Q9Y6J0 246352 2220 5.7 22 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9Y6J3 10312 95 9.43 5 NA NA 0 PE2 -NX_Q9Y6J6 14472 123 5.57 21 Cell membrane Long QT syndrome 6;Atrial fibrillation, familial, 4 1 PE1 -NX_Q9Y6J8 35818 313 5.73 7 Nucleus speckle NA 0 PE1 -NX_Q9Y6J9 67814 622 9.14 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q9Y6K0 46554 416 8.55 1 Nucleus membrane;Endoplasmic reticulum membrane NA 8 PE1 -NX_Q9Y6K1 101858 912 6.19 2 Nucleus;Cytoplasm;Nucleoplasm Tatton-Brown-Rahman syndrome 0 PE1 -NX_Q9Y6K5 121170 1087 8.73 12 Cell membrane;Nucleoplasm;Nucleus;Cytoplasm;Cytosol NA 0 PE1 -NX_Q9Y6K8 63333 562 4.96 1 Cytoplasm;Microtubule organizing center;Cytosol NA 0 PE1 -NX_Q9Y6K9 48198 419 5.56 X Nucleus;Cytoplasm;Cytoplasm;Nucleus;Cytosol Immunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia;Incontinentia pigmenti;Immunodeficiency 33;Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema;Recurrent isolated invasive pneumococcal disease 2;Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked 0 PE1 -NX_Q9Y6L6 76449 691 8.85 12 Basolateral cell membrane Hyperbilirubinemia, Rotor type 12 PE1 -NX_Q9Y6L7 113557 1015 5.6 10 Secreted NA 0 PE1 -NX_Q9Y6M0 34884 314 7.56 16 Cytosol;Cell membrane NA 0 PE1 -NX_Q9Y6M1 66121 599 8.48 3 Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q9Y6M4 51389 447 9.29 5 Cytoplasm NA 0 PE1 -NX_Q9Y6M5 55300 507 6.02 1 Cell membrane;Cell membrane;Cytoplasmic vesicle NA 6 PE1 -NX_Q9Y6M7 136044 1214 6.26 3 Cell membrane;Apical cell membrane;Cell membrane;Focal adhesion;Stereocilium;Basolateral cell membrane NA 11 PE1 -NX_Q9Y6M9 21831 179 8.57 8 Mitochondrion inner membrane;Mitochondrion NA 0 PE1 -NX_Q9Y6N1 31430 276 9.22 17 Mitochondrion inner membrane NA 1 PE1 -NX_Q9Y6N3 29971 262 8.42 1 Secreted NA 0 PE1 -NX_Q9Y6N5 49961 450 9.18 15 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q9Y6N6 171227 1575 6.14 9 Basement membrane Cortical malformations occipital 0 PE1 -NX_Q9Y6N7 180930 1651 5.7 3 Cell membrane;Axon;Cell membrane NA 1 PE1 -NX_Q9Y6N8 88451 788 4.83 5 Cell membrane NA 1 PE1 -NX_Q9Y6N9 62211 552 5.36 11 Cytosol;Cytoskeleton;Microvillus;Cytosol Deafness, autosomal recessive, 18A;Usher syndrome 1C 0 PE1 -NX_Q9Y6P5 56557 492 5.68 6 Nucleus;Nucleus;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q9Y6Q1 74576 641 6.62 X Perinuclear region;Spindle;Cytosol NA 0 PE1 -NX_Q9Y6Q2 83141 735 5.82 2 Membrane;Cytoplasm NA 0 PE1 -NX_Q9Y6Q3 71209 630 9.26 9 Cytoplasmic vesicle;Nucleus;Nucleus NA 0 PE1 -NX_Q9Y6Q5 48108 423 8.23 19 Cytoplasmic vesicle;Clathrin-coated vesicle membrane;Golgi apparatus NA 0 PE1 -NX_Q9Y6Q6 66034 616 5.21 18 Cell membrane;Cell membrane;Cytosol Paget disease of bone 2, early-onset;Familial expansile osteolysis;Osteopetrosis, autosomal recessive 7 1 PE1 -NX_Q9Y6Q9 155293 1424 7.16 20 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q9Y6R0 64891 609 9.1 19 Cytoplasm NA 0 PE1 -NX_Q9Y6R1 121461 1079 6.35 4 Basolateral cell membrane Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 10 PE1 -NX_Q9Y6R4 181685 1608 5.94 6 Perinuclear region;Cytosol NA 0 PE1 -NX_Q9Y6R6 96807 833 9.17 19 Nucleus NA 0 PE1 -NX_Q9Y6R7 572017 5405 5.14 19 Secreted;Cell membrane;Cytoskeleton;Golgi apparatus NA 0 PE1 -NX_Q9Y6R9 57368 512 10.27 19 Nucleus NA 0 PE1 -NX_Q9Y6S9 60036 549 7.06 14 Nucleoplasm NA 0 PE2 -NX_Q9Y6T7 90595 804 8.11 7 Cytoplasm NA 0 PE1 -NX_Q9Y6U3 80489 715 5.5 7 Cell membrane;Cytosol;Cytoskeleton;Podosome NA 0 PE1 -NX_Q9Y6U7 41101 377 8.98 22 Nucleolus;Cytoskeleton;Membrane NA 2 PE2 -NX_Q9Y6V0 553277 5065 6.09 7 Cell membrane;Nucleus speckle;Synapse Pontocerebellar hypoplasia 3 0 PE1 -NX_Q9Y6V7 54226 483 9.21 19 Mitochondrion;Nucleolus NA 0 PE1 -NX_Q9Y6W3 92652 813 7.55 3 Nucleus;Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q9Y6W5 54284 498 5.38 1 Cytoskeleton;Cytoplasm;Lamellipodium;Cytosol;Cell membrane;Cytoskeleton NA 0 PE1 -NX_Q9Y6W6 52642 482 7.87 1 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q9Y6W8 22625 199 9.01 2 Cell membrane;Secreted Immunodeficiency, common variable, 1 1 PE1 -NX_Q9Y6X0 175008 1596 9.76 18 Nucleus;Cytosol;Nucleus;Nucleus Leukemia, chronic myeloid, atypical;Mental retardation, autosomal dominant 29;Myelodysplastic syndrome;Leukemia, juvenile myelomonocytic;Schinzel-Giedion midface retraction syndrome;Leukemia, acute myelogenous 0 PE1 -NX_Q9Y6X1 7374 66 11.01 3 Cell membrane;Endoplasmic reticulum membrane;Membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q9Y6X2 68017 628 7.81 1 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q9Y6X3 69082 613 6.84 19 Nucleoplasm;Nucleoplasm NA 0 PE1 -NX_Q9Y6X4 74955 670 4.52 5 Nucleus membrane;Nucleus inner membrane;Cytosol;Nucleus envelope NA 0 PE1 -NX_Q9Y6X5 51641 453 5.71 6 Cell membrane NA 1 PE1 -NX_Q9Y6X6 206129 1858 6.37 13 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q9Y6X8 92307 837 6.42 8 Nucleus NA 0 PE1 -NX_Q9Y6X9 117823 1032 8.6 22 Cytosol;Cytosol;Nucleus;Nucleus Charcot-Marie-Tooth disease 2Z 0 PE1 -NX_Q9Y6Y0 71729 642 5.33 1 Cytosol;Cytoplasm;Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q9Y6Y1 183672 1673 7.29 1 Nucleolus;Cytosol;Nucleus;Cytoplasm Cerebellar ataxia, non-progressive, with mental retardation 0 PE1 -NX_Q9Y6Y8 111076 1000 5.35 10 COPII-coated vesicle membrane;Cytoplasmic vesicle;Endoplasmic reticulum NA 0 PE1 -NX_Q9Y6Y9 18546 160 8.8 8 Cytoplasmic vesicle;Secreted;Extracellular space NA 0 PE1 -NX_Q9Y6Z2 6189 57 5.98 6 NA NA 0 PE4 -NX_Q9Y6Z4 19411 181 9.48 6 NA NA 0 PE5 -NX_Q9Y6Z5 26128 254 11.81 6 NA NA 0 PE5 -NX_Q9Y6Z7 30705 277 6.96 8 Cytoplasm;Golgi apparatus;Secreted 3MC syndrome 3 0 PE1 -NX_Q9YNA8 74183 666 9.05 19 Cell membrane NA 0 PE1 -NX_S4R3P1 2751 24 5.87 4 Secreted;Cytoplasm NA 0 PE3 -NX_S4R3Y5 2737 24 7.98 1 Secreted;Cytoplasm NA 0 PE2 -NX_U3KPV4 38754 340 9.39 1 Golgi stack membrane NA 1 PE2 -NX_W5XKT8 36333 324 6.15 19 Membrane NA 1 PE1 -NX_A0A075B6H9 12773 119 6.01 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6I0 12814 122 4.33 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6I1 12987 120 5.8 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6I4 12395 117 7.85 22 Secreted;Cell membrane NA 0 PE1 -NX_A0A075B6I9 12468 117 6.69 22 Secreted;Cell membrane NA 0 PE1 -NX_A0A075B6J1 13277 123 4.75 22 Secreted;Cell membrane NA 0 PE1 -NX_A0A075B6J6 12549 115 3.95 22 Cell membrane;Secreted NA 0 PE3 -NX_A0A075B6J9 12412 118 4.66 22 Secreted;Cell membrane NA 0 PE1 -NX_A0A075B6K0 12466 115 4.58 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6K2 12387 115 5.34 22 Secreted;Cell membrane NA 0 PE1 -NX_A0A075B6K4 12441 115 4.72 22 Secreted;Cell membrane NA 0 PE1 -NX_A0A075B6K5 12332 115 6.81 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A075B6K6 13330 122 5.39 22 Secreted;Cell membrane NA 0 PE1 -NX_A0A075B6P5 12957 120 5.61 2 Secreted;Cell membrane NA 0 PE1 -NX_A0A075B6Q5 12891 118 7.69 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A075B6R2 12848 117 9.64 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A075B6S2 13143 120 6.53 2 Secreted;Cell membrane NA 0 PE1 -NX_A0A075B6S4 12835 117 9.22 2 Secreted;Cell membrane NA 0 PE1 -NX_A0A075B6S5 12712 117 8.5 2 Secreted;Cell membrane NA 0 PE1 -NX_A0A075B6S6 13215 120 7.79 2 Secreted;Cell membrane NA 0 PE3 -NX_A0A075B759 18197 164 9.43 1 Cytoplasm NA 0 PE3 -NX_A0A087WSX0 13162 123 6.69 22 Secreted;Cell membrane NA 0 PE1 -NX_A0A087WSY4 13025 118 9.7 3 Secreted;Cell membrane NA 0 PE1 -NX_A0A087WSY6 12534 115 5.14 2 Secreted;Cell membrane NA 0 PE3 -NX_A0A087WSZ0 12837 117 7.62 2 Secreted;Cell membrane NA 0 PE1 -NX_A0A087WTH1 11832 108 7.61 16 Membrane NA 2 PE2 -NX_A0A087WTH5 15028 132 8.73 21 Membrane NA 1 PE3 -NX_A0A087WUL8 440408 3843 4.53 1 Cytoplasm NA 0 PE5 -NX_A0A087WVF3 62187 549 9.2 17 Cell membrane NA 0 PE2 -NX_A0A087WW87 13310 121 4.43 2 Cell membrane;Secreted NA 0 PE1 -NX_A0A087WX78 41674 387 8.87 18 Nucleus NA 0 PE5 -NX_A0A087WXM9 40829 373 8.65 5 Kinetochore;Centromere NA 0 PE2 -NX_A0A087WXS9 62205 549 9.2 17 Cell membrane NA 0 PE3 -NX_A0A087X179 62131 549 9.18 17 Cell membrane NA 0 PE2 -NX_A0A087X1C5 57489 515 8.7 22 Mitochondrion;Cytoplasm;Membrane NA 2 PE5 -NX_A0A087X1G2 62171 549 9.23 17 Cell membrane NA 0 PE3 -NX_A0A096LNP1 8156 70 8.26 11 Secreted NA 0 PE2 -NX_A0A096LP01 10908 95 6.24 20 Nucleoplasm;Cytosol;Membrane NA 1 PE1 -NX_A0A096LP49 114856 1063 9.76 9 NA NA 0 PE1 -NX_A0A096LP55 10752 91 4.39 1 Mitochondrion inner membrane NA 0 PE3 -NX_A0A096LPI5 11989 108 8.8 6 NA NA 0 PE4 -NX_A0A0A0MRZ7 13297 120 4.9 2 Cell membrane;Secreted NA 0 PE3 -NX_A0A0A0MRZ8 12625 115 5.15 2 Secreted;Cell membrane NA 0 PE3 -NX_A0A0A0MRZ9 13446 124 7.76 22 Secreted;Cell membrane NA 0 PE1 -NX_A0A0A0MS14 13508 117 9.2 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A0A0MS15 13056 119 8.84 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A0A0MT36 12340 114 6.7 2 Secreted;Cell membrane NA 0 PE3 -NX_A0A0A0MT76 4776 42 9.53 22 Secreted;Cell membrane NA 0 PE4 -NX_A0A0A0MT89 1394 13 7.1 2 Secreted;Cell membrane NA 0 PE4 -NX_A0A0B4J1U3 12478 117 4.56 22 Secreted;Cell membrane NA 0 PE1 -NX_A0A0B4J1U7 13481 121 9.3 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0B4J1V0 12926 119 8.84 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A0B4J1V1 12840 117 8.49 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0B4J1V2 13182 119 8.49 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A0B4J1V6 12858 119 9.3 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0B4J1X5 12840 117 8.91 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A0B4J1X8 13077 118 5.28 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A0B4J1Y8 13024 123 6.7 22 Cell membrane;Secreted NA 0 PE1 -NX_A0A0B4J1Y9 13203 119 7.69 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A0B4J1Z2 12989 117 9.1 2 Secreted;Cell membrane NA 0 PE1 -NX_A0A0B4J2A2 18156 164 9.32 1 Cytoplasm NA 0 PE2 -NX_A0A0B4J2D9 12569 117 7.68 2 Secreted;Cell membrane NA 0 PE1 -NX_A0A0B4J2F0 6313 54 8.04 15 Secreted NA 0 PE1 -NX_A0A0B4J2H0 12660 117 8.64 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A0C4DH24 12430 114 6.7 2 Secreted;Cell membrane NA 0 PE3 -NX_A0A0C4DH25 12515 116 4.46 2 Secreted;Cell membrane NA 0 PE1 -NX_A0A0C4DH29 13008 117 9.59 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A0C4DH31 12820 117 8.98 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A0C4DH32 12673 117 7.71 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A0C4DH33 12824 117 5.04 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A0C4DH34 13124 117 9.36 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH38 12675 117 8.45 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH39 13005 117 9.34 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A0C4DH41 13066 118 9.36 14 Cell membrane;Secreted NA 0 PE3 -NX_A0A0C4DH42 12698 116 8.38 14 Secreted;Cell membrane NA 0 PE3 -NX_A0A0C4DH43 13312 119 8.5 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A0C4DH55 13148 119 5.64 2 Secreted;Cell membrane NA 0 PE1 -NX_A0A0C4DH62 1910 17 5.24 14 Secreted;Cell membrane NA 0 PE4 -NX_A0A0C4DH67 12537 115 9.21 2 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH68 13079 120 8.74 2 Secreted;Cell membrane NA 0 PE1 -NX_A0A0C4DH69 12715 117 8.52 2 Cell membrane;Secreted NA 0 PE1 -NX_A0A0C4DH72 12697 117 8.52 2 Secreted;Cell membrane NA 0 PE1 -NX_A0A0C4DH73 12645 117 8.55 2 Secreted;Cell membrane NA 0 PE3 -NX_A0A0C5B5G6 2175 16 10.27 MT Secreted NA 0 PE1 -NX_A0A0G2JMD5 55092 474 8.62 1 NA NA 0 PE3 -NX_A0A0G2JMI3 12871 117 4.72 14 Cell membrane;Secreted NA 0 PE1 -NX_A0A0G2JS06 13394 123 8.84 22 Secreted;Cell membrane NA 0 PE1 -NX_A0A0J9YVY3 12849 117 8.86 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A0J9YWL9 109806 993 8.94 X NA NA 0 PE5 -NX_A0A0J9YX35 12823 117 7.68 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A0J9YX94 60071 578 4.47 X NA NA 0 PE1 -NX_A0A0J9YXQ4 65155 647 4.62 X NA NA 0 PE1 -NX_A0A0J9YXX1 12773 117 8.46 14 Secreted;Cell membrane NA 0 PE1 -NX_A0A0U1RR37 20280 186 4.63 1 NA NA 0 PE4 -NX_A0A0U1RRE5 7025 68 9.51 X P-body NA 0 PE1 -NX_A0A183 9022 80 9.13 1 NA NA 0 PE2 -NX_A0A1B0GTD5 15631 131 9.56 12 NA NA 0 PE4 -NX_A0A1B0GTK4 20560 181 8.96 2 Membrane NA 1 PE3 -NX_A0A1B0GTK5 8682 79 8.8 X NA NA 0 PE3 -NX_A0A1B0GTQ4 9607 84 11.45 6 Cell membrane NA 0 PE3 -NX_A0A1B0GTR0 18455 161 8.6 19 NA NA 0 PE3 -NX_A0A1B0GTR4 11945 108 8.55 1 NA NA 0 PE5 -NX_A0A1B0GTS1 37155 333 6.48 X Nucleus NA 0 PE3 -NX_A0A1B0GTY4 20847 177 9.36 1 Membrane NA 1 PE1 -NX_A0A1B0GTZ2 34479 297 8.83 14 NA NA 0 PE5 -NX_A0A1B0GU29 16551 152 4.52 6 Membrane NA 1 PE3 -NX_A0A1B0GUA6 21921 201 8.34 2 NA NA 0 PE5 -NX_A0A1B0GUA7 18842 166 7.59 2 Membrane NA 1 PE3 -NX_A0A1B0GUC4 12046 108 9 1 NA NA 0 PE4 -NX_A0A1B0GUJ8 22873 204 9.07 19 NA NA 0 PE3 -NX_A0A1B0GUQ0 8715 79 7.8 X NA NA 0 PE3 -NX_A0A1B0GUU1 72432 675 5.84 17 Membrane NA 1 PE3 -NX_A0A1B0GUV7 13937 120 8.99 9 NA NA 0 PE4 -NX_A0A1B0GV22 8715 79 7.8 X NA NA 0 PE3 -NX_A0A1B0GVG4 24954 234 10.03 19 NA NA 0 PE3 -NX_A0A1B0GVH4 25576 220 8.73 8 Secreted NA 0 PE3 -NX_A0A1B0GVH7 59586 501 9.96 4 NA NA 0 PE4 -NX_A0A1B0GVK7 9685 77 9.92 3 NA NA 0 PE4 -NX_A0A1B0GVM6 13914 126 9.43 11 NA NA 0 PE4 -NX_A0A1B0GVQ0 9632 90 8.51 9 Late endosome membrane;Lysosome membrane NA 1 PE1 -NX_A0A1B0GVS7 21509 189 4.64 3 NA NA 0 PE2 -NX_A0A1B0GVZ2 9744 78 8.52 9 NA NA 0 PE4 -NX_A0A1B0GVZ6 22665 204 11.53 19 NA NA 0 PE3 -NX_A0A1B0GVZ9 26874 245 6.68 1 Membrane NA 5 PE3 -NX_A0A1B0GWH4 37128 333 6.48 X Nucleus NA 0 PE3 -NX_A0A1W2PPG7 7528 69 5.14 19 Cell membrane NA 0 PE5 -NX_A0A5B9 19969 178 5.81 7 Membrane NA 1 PE1 -NX_A0AUZ9 112253 987 8.69 2 Cytosol NA 0 PE1 -NX_A0AV02 78239 714 5.51 3 Membrane;Nucleoplasm NA 13 PE1 -NX_A0AV96 64099 593 7.56 4 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_A0AVF1 64178 554 6.5 7 Cytoplasm;Nucleus;Nucleus speckle;Cilium;Cytoskeleton;Cytosol NA 0 PE1 -NX_A0AVI2 237935 2057 8.3 2 Cell membrane;Membrane NA 1 PE1 -NX_A0AVI4 40464 362 7.84 4 Endoplasmic reticulum membrane;Cytoplasmic vesicle NA 3 PE1 -NX_A0AVK6 94166 867 9.11 11 Cytosol;Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_A0AVT1 117970 1052 5.76 4 Cytoplasm;Cytosol;Nucleoplasm NA 0 PE1 -NX_A0FGR8 102357 921 9.33 7 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA 2 PE1 -NX_A0FGR9 100035 886 8.68 3 Cell membrane;Endoplasmic reticulum membrane NA 2 PE1 -NX_A0JLT2 26273 244 9.83 11 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_A0JNW5 164199 1464 5.89 12 Cell membrane NA 0 PE1 -NX_A0JP26 65710 581 6.24 15 NA NA 0 PE2 -NX_A0M8Q6 11254 106 8.5 22 Secreted;Cell membrane NA 0 PE1 -NX_A0MZ66 71640 631 5.27 10 Perikaryon;Axon;Cytoskeleton;Filopodium;Nucleus;Growth cone;Lamellipodium;Cell membrane;Cytosol NA 0 PE1 -NX_A0PG75 30027 271 5.12 3 NA NA 0 PE2 -NX_A0PJE2 35146 317 6.84 13 Golgi apparatus;Nucleoplasm;Cytoplasmic vesicle NA 0 PE2 -NX_A0PJK1 64342 596 7.55 17 Endoplasmic reticulum;Cell membrane NA 14 PE1 -NX_A0PJW6 22049 202 11.03 11 Mitochondrion;Membrane;Nucleus;Nucleus membrane NA 2 PE1 -NX_A0PJW8 11880 107 10 2 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_A0PJX0 21745 185 4.64 2 NA NA 0 PE1 -NX_A0PJX2 23912 215 4.67 20 NA NA 0 PE2 -NX_A0PJX4 25832 238 6.5 4 Cytosol;Lipid droplet;Endoplasmic reticulum membrane NA 1 PE1 -NX_A0PJX8 37222 343 8.57 1 Membrane NA 8 PE1 -NX_A0PJY2 52038 475 9.62 7 Nucleus;Nucleus;Cytosol Hypogonadotropic hypogonadism 22 with or without anosmia 0 PE1 -NX_A0PJZ0 18446 165 8.26 18 NA NA 0 PE5 -NX_A0PJZ3 51056 443 9.79 3 Midbody ring;Cytoskeleton;Nucleoplasm;Membrane NA 1 PE1 -NX_A0PK00 40246 339 9.08 12 Nucleus inner membrane NA 6 PE1 -NX_A0PK05 29891 275 6.07 10 Membrane NA 4 PE1 -NX_A0PK11 25446 232 6.51 4 Membrane NA 4 PE2 -NX_A0ZSE6 13039 113 8.2 3 Membrane NA 1 PE2 -NX_A1A4F0 15626 135 9.28 3 Nucleoplasm;Nucleus NA 0 PE2 -NX_A1A4G5 21321 178 8.59 3 Nucleus speckle;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_A1A4S6 89375 786 6.75 4 Cytoplasm;Perinuclear region;Cell membrane;Nucleoplasm;Cytosol;Nucleus membrane NA 0 PE1 -NX_A1A4V9 37921 331 6.29 16 Cytosol NA 0 PE1 -NX_A1A4Y4 20142 181 5.23 5 Phagocytic cup;Cell membrane;Phagosome membrane;Autophagosome membrane;Golgi apparatus membrane Inflammatory bowel disease 19 0 PE1 -NX_A1A519 37158 330 5 5 Nucleus NA 0 PE1 -NX_A1A580 6892 65 5.26 21 NA NA 0 PE1 -NX_A1A5B4 90333 782 8.45 11 Cell membrane;Golgi apparatus NA 8 PE1 -NX_A1A5C7 73748 686 7.98 6 Cytosol;Cytoplasmic vesicle;Membrane;Nucleoplasm NA 10 PE1 -NX_A1A5D9 56834 508 4.99 16 Cytoskeleton;Cytoskeleton;Cytosol NA 0 PE1 -NX_A1E959 30777 279 4.49 4 Secreted;Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_A1IGU5 76278 675 6.47 5 Cytosol NA 0 PE1 -NX_A1KXE4 20324 195 9.26 2 Nucleus;Cytoplasm;Perinuclear region;Cell membrane;Axon NA 2 PE1 -NX_A1KZ92 163686 1463 7.25 8 Nucleoplasm;Cytosol;Cytoplasm;Secreted NA 0 PE1 -NX_A1L020 54173 520 7.02 1 Cytosol;Cytoplasm;Nucleus;P-body NA 0 PE1 -NX_A1L0T0 67868 632 8.42 19 Cytoplasmic vesicle;Membrane;Golgi apparatus NA 1 PE1 -NX_A1L157 28245 253 7.53 12 Cytoplasmic vesicle;Membrane NA 4 PE2 -NX_A1L162 17672 156 3.86 2 Cytoplasmic vesicle;Nucleolus NA 0 PE1 -NX_A1L167 18338 161 7.74 5 Cell membrane;Nucleus;Nucleus NA 0 PE1 -NX_A1L168 13591 122 9.13 20 NA NA 0 PE2 -NX_A1L170 29057 272 5.19 1 Nucleoplasm NA 0 PE1 -NX_A1L188 7756 74 9.56 17 Mitochondrion;Mitochondrion NA 0 PE1 -NX_A1L190 10601 88 4.53 22 Nucleus;Nucleus;Chromosome;Nucleolus;Golgi apparatus NA 0 PE1 -NX_A1L1A6 20591 192 6.28 19 Nucleus;Cell junction;Membrane NA 1 PE2 -NX_A1L390 134412 1219 6.13 14 Centrosome;Cytoskeleton;Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_A1L3X0 33356 281 9.34 5 Endoplasmic reticulum membrane NA 7 PE1 -NX_A1L3X4 4983 49 8.38 16 NA NA 0 PE5 -NX_A1L429 12925 117 4.23 X NA NA 0 PE1 -NX_A1L443 80770 756 8.51 9 NA NA 0 PE2 -NX_A1L453 35356 326 6.04 1 Secreted NA 0 PE1 -NX_A1L4H1 165743 1573 5.71 19 Nucleoplasm;Cytosol;Secreted;Cytoplasm NA 0 PE1 -NX_A1L4K1 85385 749 4.81 15 Cytosol NA 0 PE1 -NX_A1L4L8 19885 177 7.94 5 Nucleus NA 0 PE2 -NX_A1L4Q6 18020 167 6.08 11 NA NA 0 PE5 -NX_A1X283 101579 911 8.82 5 Cytoplasm;Nucleus;Podosome;Cell membrane;Nucleolus Frank-Ter Haar syndrome 0 PE1 -NX_A1XBS5 33431 289 5.89 8 Cytoplasm;Centriole;Nucleus;Cilium basal body;Mitochondrion NA 0 PE1 -NX_A1YPR0 69017 619 5.09 18 NA NA 0 PE1 -NX_A1Z1Q3 50050 448 4.53 20 Centrosome;Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_A2A288 58078 527 8.92 6 P-body;Cytoplasm;Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_A2A2V5 11458 107 4.33 13 Cytoplasmic vesicle;Membrane NA 1 PE2 -NX_A2A2Y4 68772 597 5.97 9 Golgi apparatus;Cell membrane;Nucleoplasm;Membrane NA 1 PE1 -NX_A2A2Z9 118231 1011 8.35 9 NA NA 0 PE1 -NX_A2A368 36178 324 5.25 X NA NA 0 PE4 -NX_A2A3K4 84457 754 7.35 9 Nucleoplasm NA 0 PE1 -NX_A2A3L6 63396 582 9.37 1 NA NA 0 PE4 -NX_A2A3N6 95048 862 5.46 10 Cytoplasm NA 0 PE5 -NX_A2AJT9 83871 711 9.71 X Mitochondrion;Nucleoplasm NA 0 PE1 -NX_A2CJ06 65320 578 9.18 2 Cell membrane NA 0 PE2 -NX_A2IDD5 48521 438 8.27 16 Sarcoplasmic reticulum;Sarcolemma;Perinuclear region;Centriole Myopathy, centronuclear, 4 0 PE1 -NX_A2NJV5 13085 120 6.7 2 Secreted;Cell membrane NA 0 PE1 -NX_A2PYH4 162610 1435 6.66 1 Golgi apparatus;Cytoplasmic vesicle Premature ovarian failure 9 0 PE1 -NX_A2RRD8 59326 509 9.16 19 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_A2RRH5 90038 827 8.25 6 Nucleoplasm NA 0 PE1 -NX_A2RRL7 11520 107 5.41 7 Membrane NA 1 PE2 -NX_A2RRP1 268571 2371 5.65 2 Nucleus membrane;Cytoplasm;Nucleolus;Golgi apparatus;Endoplasmic reticulum;Endoplasmic reticulum membrane Infantile liver failure syndrome 2;Short stature, optic nerve atrophy, and Pelger-Huet anomaly 0 PE1 -NX_A2RTX5 92646 802 5.74 15 Cytosol;Cytoplasm NA 0 PE1 -NX_A2RTY3 65681 570 9.32 17 NA NA 0 PE1 -NX_A2RU14 12459 115 6.7 11 Membrane;Cytosol;Cilium;Cell membrane NA 3 PE1 -NX_A2RU30 59213 521 5.48 12 Cytoplasm;Endoplasmic reticulum membrane NA 0 PE1 -NX_A2RU37 13369 121 10.58 9 NA NA 0 PE2 -NX_A2RU48 24877 225 8.32 12 Membrane NA 1 PE1 -NX_A2RU49 41933 373 6.36 15 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_A2RU54 29598 273 9.16 10 Nucleus NA 0 PE1 -NX_A2RU67 67039 622 4.88 12 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_A2RUB1 107559 952 6.68 17 Cytoplasm;Cell junction;Nucleus NA 0 PE1 -NX_A2RUB6 109411 948 8.47 3 Midbody ring;Cell junction;Microtubule organizing center NA 0 PE1 -NX_A2RUC4 36548 315 7.1 2 Nucleus NA 0 PE1 -NX_A2RUG3 12988 117 8.91 Y Membrane NA 3 PE2 -NX_A2RUH7 38733 354 8.65 1 NA NA 0 PE1 -NX_A2RUQ5 17761 167 10.63 17 NA NA 0 PE2 -NX_A2RUR9 165125 1427 5.26 17 NA NA 0 PE2 -NX_A2RUS2 135890 1198 6.63 8 Cytosol;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_A2RUT3 17572 159 10.06 3 Membrane NA 1 PE1 -NX_A2RUU4 14057 121 8.92 6 Secreted NA 0 PE2 -NX_A2VCK2 37665 349 9 1 NA NA 0 PE1 -NX_A2VCL2 103842 907 8.13 6 NA NA 0 PE2 -NX_A2VDF0 16765 154 5.49 10 NA NA 0 PE1 -NX_A2VDJ0 179339 1609 6.43 4 Cell membrane;Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleolus NA 1 PE1 -NX_A2VEC9 547504 5147 5.66 7 Extracellular space NA 0 PE2 -NX_A3KFT3 35112 312 8.56 1 Cell membrane NA 7 PE3 -NX_A3KMH1 214824 1905 7.01 13 Lipid droplet;Mitochondrion;Cytoplasmic vesicle NA 0 PE1 -NX_A3KN83 154312 1393 7.96 12 Nucleoplasm NA 0 PE1 -NX_A3QJZ6 55489 481 8.4 1 NA NA 0 PE3 -NX_A3QJZ7 55206 478 8.58 1 NA NA 0 PE3 -NX_A4D0S4 193540 1761 5.93 7 Basement membrane;Cytosol NA 0 PE2 -NX_A4D0T2 13234 115 9.3 7 Membrane NA 1 PE4 -NX_A4D0T7 6102 59 5.93 7 Membrane NA 1 PE3 -NX_A4D0V7 117491 1026 8.41 7 Endoplasmic reticulum;Nucleus NA 0 PE2 -NX_A4D0Y5 10046 90 6.55 7 NA NA 0 PE4 -NX_A4D126 49873 451 5.86 7 Nucleolus;Nucleus;Cytosol Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7;Muscular dystrophy-dystroglycanopathy limb-girdle C7 0 PE1 -NX_A4D161 33083 298 6.33 7 Cytosol NA 0 PE1 -NX_A4D174 19096 169 9.51 7 NA NA 0 PE2 -NX_A4D1B5 97802 854 6.38 7 Cytoplasmic vesicle;trans-Golgi network NA 0 PE1 -NX_A4D1E1 152573 1349 8.84 7 NA NA 0 PE2 -NX_A4D1E9 42933 387 9.12 7 Nucleolus;Chromosome NA 0 PE1 -NX_A4D1F6 98035 860 7.24 7 NA NA 0 PE1 -NX_A4D1N5 16741 150 7.87 7 NA NA 0 PE2 -NX_A4D1P6 83344 747 6.15 7 Early endosome membrane;Late endosome membrane;Nucleoplasm NA 0 PE1 -NX_A4D1S0 42851 409 5.63 7 Membrane NA 1 PE1 -NX_A4D1S5 24400 217 6.06 7 Cell membrane NA 0 PE1 -NX_A4D1T9 26445 235 9.05 7 Acrosome;Secreted NA 0 PE1 -NX_A4D1U4 51446 455 5.18 7 Golgi apparatus NA 0 PE1 -NX_A4D1Z8 15999 144 6.28 7 NA NA 0 PE2 -NX_A4D250 19503 179 4.86 7 NA NA 0 PE2 -NX_A4D256 63299 554 8.86 7 Nucleolus;Membrane NA 1 PE1 -NX_A4D263 49672 438 8.67 7 NA NA 0 PE1 -NX_A4D2B0 27202 266 4.73 7 NA NA 0 PE1 -NX_A4D2B8 47508 440 8.75 7 NA NA 0 PE5 -NX_A4D2G3 34606 310 8.65 7 Cell membrane NA 7 PE2 -NX_A4D2H0 87868 777 5.15 7 Membrane NA 1 PE2 -NX_A4D2P6 132276 1211 7.11 7 Postsynaptic cell membrane NA 0 PE1 -NX_A4FU01 79545 709 6.59 1 Centrosome NA 0 PE1 -NX_A4FU28 87953 777 5.22 6 Membrane NA 1 PE2 -NX_A4FU49 70519 640 5.6 1 Nucleus;Cell membrane NA 0 PE1 -NX_A4FU69 173404 1503 5.58 17 NA NA 0 PE1 -NX_A4GXA9 41178 379 5.97 16 Nucleus NA 0 PE1 -NX_A4IF30 57809 521 9 14 Nucleolus;Membrane NA 10 PE2 -NX_A4QMS7 16991 147 7.02 5 NA NA 0 PE1 -NX_A4QN01 15288 128 9.18 10 NA NA 0 PE2 -NX_A4QPB2 28483 252 5.92 22 Nucleoplasm NA 0 PE2 -NX_A4QPH2 66944 592 6.68 22 NA NA 0 PE5 -NX_A4UGR9 382300 3374 5.99 2 Cell junction NA 0 PE1 -NX_A5A3E0 121445 1075 5.82 2 Cell cortex NA 0 PE1 -NX_A5D6W6 32207 292 9.86 14 Endoplasmic reticulum membrane NA 6 PE1 -NX_A5D8T8 49602 446 8.47 16 Secreted;Endoplasmic reticulum;Endosome;Golgi apparatus NA 0 PE1 -NX_A5D8V6 38659 355 5.19 11 Late endosome membrane;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_A5D8V7 69140 595 9.11 19 Nucleoplasm;Cilium;Cilium basal body;Centriole;Cilium axoneme Ciliary dyskinesia, primary, 30 0 PE1 -NX_A5D8W1 105883 941 6.81 7 NA NA 0 PE1 -NX_A5LHX3 32530 300 5.99 14 Cytoplasm;Nucleus NA 0 PE1 -NX_A5PKW4 109543 1024 6.43 10 Cell membrane;Cytosol;Cell membrane;Nucleoplasm;Cleavage furrow;Ruffle membrane NA 0 PE1 -NX_A5PL33 107498 1030 8.09 7 Nucleus;Cytosol NA 0 PE1 -NX_A5PLK6 125688 1076 9.15 1 Membrane NA 1 PE1 -NX_A5PLL1 56414 514 7.61 5 Cytoplasm;Nucleus;Lipid droplet NA 0 PE1 -NX_A5PLL7 31135 270 6.33 20 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 3 PE1 -NX_A5PLN7 82698 773 9.53 4 Nucleus NA 0 PE1 -NX_A5PLN9 46524 417 5.4 5 Cell membrane;Nucleus NA 0 PE1 -NX_A5X5Y0 51438 456 6.46 3 Cell membrane NA 4 PE1 -NX_A5YKK6 266939 2376 6.65 16 Cytosol;P-body;Nucleus NA 0 PE1 -NX_A5YM69 53287 484 4.27 7 NA NA 0 PE1 -NX_A5YM72 88484 827 5.83 11 NA NA 0 PE1 -NX_A6BM72 110844 1044 5.78 15 Basolateral cell membrane;Cell membrane NA 1 PE2 -NX_A6H8M9 85827 788 5.24 3 Membrane NA 1 PE2 -NX_A6H8Y1 293885 2624 5.06 5 Nucleus NA 0 PE1 -NX_A6H8Z2 45394 402 5.37 9 NA NA 0 PE1 -NX_A6NC05 15764 138 9.26 5 Mitochondrion NA 0 PE1 -NX_A6NC42 13498 116 9.26 6 Cytoplasm NA 0 PE1 -NX_A6NC51 25701 233 9.05 19 Endosome membrane;Autophagosome membrane;Cell membrane NA 6 PE2 -NX_A6NC57 106446 917 6.25 18 NA NA 0 PE2 -NX_A6NC62 12297 111 9.05 7 NA NA 0 PE5 -NX_A6NC78 71330 632 7.14 15 Golgi stack membrane NA 0 PE5 -NX_A6NC86 21926 204 8.37 19 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_A6NC97 41969 362 8.59 3 Membrane NA 1 PE5 -NX_A6NC98 164809 1476 5.09 11 Centrosome;Nucleoplasm;Membrane;Golgi apparatus;Microtubule organizing center;Cytosol;Endoplasmic reticulum;Cytoplasm NA 0 PE1 -NX_A6NCC3 71536 632 5.98 15 NA NA 0 PE1 -NX_A6NCE7 14628 125 8.73 12 Autophagosome membrane;Cytoskeleton;Endomembrane system NA 0 PE2 -NX_A6NCF5 57810 533 6.98 14 NA NA 0 PE2 -NX_A6NCF6 37899 341 5.98 X NA NA 0 PE5 -NX_A6NCI4 134020 1184 8.74 16 Secreted NA 0 PE2 -NX_A6NCI5 10419 91 6.94 1 Membrane NA 1 PE5 -NX_A6NCI8 100170 922 9.12 2 NA NA 0 PE2 -NX_A6NCJ1 24176 209 9.14 19 Cell membrane;Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_A6NCK2 52310 446 8.07 2 NA NA 0 PE3 -NX_A6NCL1 37887 334 5.79 3 Nucleus NA 0 PE1 -NX_A6NCL2 17834 159 8.55 12 NA NA 0 PE1 -NX_A6NCL7 53975 494 8.27 5 Mitochondrion NA 0 PE1 -NX_A6NCM1 94931 817 9.3 7 NA NA 0 PE1 -NX_A6NCN2 29117 255 5.64 12 NA NA 0 PE5 -NX_A6NCN8 35334 305 10.17 12 NA NA 0 PE1 -NX_A6NCQ9 23767 220 9.08 17 Membrane NA 1 PE4 -NX_A6NCS4 32121 301 9.91 8 Nucleus Conotruncal heart malformations 0 PE1 -NX_A6NCS6 30481 295 8.73 2 Cell membrane;Nucleus NA 0 PE1 -NX_A6NCV1 35253 312 8.95 12 Cell membrane NA 7 PE3 -NX_A6NCW0 59536 530 7.83 8 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_A6NCW3 18250 169 7.7 1 NA NA 0 PE3 -NX_A6NCW7 59636 530 7.1 8 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_A6ND01 28672 250 5.88 11 Cell membrane NA 0 PE1 -NX_A6ND36 90835 823 5.97 17 Cytosol;Nucleus;Cytosol NA 0 PE1 -NX_A6ND48 35175 311 8.89 1 Cell membrane NA 7 PE3 -NX_A6ND91 29946 283 6.79 19 NA NA 0 PE1 -NX_A6NDA9 60168 550 5.65 10 Membrane NA 1 PE1 -NX_A6NDB9 71695 673 4.53 19 Cell membrane;Nucleus;Cell membrane;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_A6NDD5 25796 238 4.55 14 Membrane;cis-Golgi network NA 2 PE2 -NX_A6NDE4 55835 496 9.96 Y Nucleus NA 0 PE2 -NX_A6NDE8 12924 117 4.33 X NA NA 0 PE2 -NX_A6NDG6 34006 321 5.85 16 Nucleus NA 0 PE1 -NX_A6NDH6 35352 313 8.77 3 Cell membrane NA 7 PE3 -NX_A6NDI0 52747 452 7.06 11 NA NA 0 PE2 -NX_A6NDK9 79884 693 5.31 15 NA NA 0 PE3 -NX_A6NDL7 31188 271 5.73 13 NA NA 0 PE5 -NX_A6NDL8 35296 312 9.01 12 Cell membrane NA 7 PE3 -NX_A6NDN3 79913 693 5.4 15 NA NA 0 PE3 -NX_A6NDN8 10909 102 8.84 11 NA NA 0 PE4 -NX_A6NDP7 32967 307 8.82 17 Membrane NA 7 PE2 -NX_A6NDR6 30204 274 4.84 17 Nucleus NA 0 PE5 -NX_A6NDS4 62320 549 9.25 17 Cell membrane NA 0 PE2 -NX_A6NDU8 33620 294 5.15 5 Nucleoplasm;Cytosol NA 0 PE1 -NX_A6NDV4 51941 472 8.35 9 Cytoplasmic vesicle;Cell membrane;Nucleus;Mitochondrion;Endoplasmic reticulum;Cytoplasm NA 7 PE1 -NX_A6NDX4 13671 124 8.96 15 Membrane NA 1 PE5 -NX_A6NDX5 83235 716 9.69 20 Nucleus NA 0 PE5 -NX_A6NDY0 30386 278 4.84 16 Cytoplasm NA 0 PE2 -NX_A6NDY2 49635 464 9.76 8 NA NA 0 PE5 -NX_A6NDZ8 23121 208 11.45 19 NA NA 0 PE5 -NX_A6NE01 262758 2351 8.66 12 NA NA 0 PE1 -NX_A6NE02 52471 478 8.91 17 Secreted NA 0 PE1 -NX_A6NE21 49680 464 9.93 8 NA NA 0 PE5 -NX_A6NE52 180307 1622 7.56 8 NA NA 0 PE1 -NX_A6NE82 23095 208 11.45 19 NA NA 0 PE5 -NX_A6NEC2 53747 478 5.17 17 NA NA 0 PE1 -NX_A6NED2 40079 376 5.18 15 Cytosol;Cell membrane;Chromosome NA 0 PE1 -NX_A6NEE1 59203 506 6.1 14 NA NA 0 PE1 -NX_A6NEF3 67563 574 4.81 15 NA NA 0 PE3 -NX_A6NEH6 25168 219 5.51 2 Membrane NA 2 PE1 -NX_A6NEH8 20902 195 11.72 10 NA NA 0 PE5 -NX_A6NEK1 38383 342 6.22 19 NA NA 0 PE1 -NX_A6NEL2 85742 793 9.64 4 Nucleolus NA 0 PE1 -NX_A6NEL3 18478 165 8.19 11 NA NA 0 PE5 -NX_A6NEM1 49193 432 5.08 15 NA NA 0 PE1 -NX_A6NEN9 21305 183 10.33 X NA NA 0 PE1 -NX_A6NEQ0 55759 496 9.95 Y Nucleus NA 0 PE2 -NX_A6NEQ2 42657 426 5.39 11 Nucleus membrane;Mitochondrion NA 0 PE2 -NX_A6NER0 62185 549 9.24 17 Cell membrane NA 0 PE2 -NX_A6NER3 12896 117 4.22 X NA NA 0 PE2 -NX_A6NES4 189561 1674 6.23 2 Cytosol NA 0 PE1 -NX_A6NET4 36711 321 8.32 3 Cell membrane NA 7 PE3 -NX_A6NEV1 28155 266 4.57 3 NA NA 0 PE3 -NX_A6NEW6 49759 464 9.95 8 NA NA 0 PE5 -NX_A6NEY3 55643 463 4.81 15 NA NA 0 PE5 -NX_A6NEY8 18658 169 5.82 2 NA NA 0 PE5 -NX_A6NF01 83015 834 9.95 7 Nuclear pore complex NA 0 PE5 -NX_A6NF34 70629 631 8.78 10 Membrane NA 1 PE1 -NX_A6NF36 17536 153 6.19 17 NA NA 0 PE2 -NX_A6NF83 11356 97 10.5 7 Nucleus NA 0 PE1 -NX_A6NF89 35963 314 8.98 12 Cell membrane NA 7 PE3 -NX_A6NFA0 37613 338 8.24 9 Membrane NA 1 PE1 -NX_A6NFA1 57421 517 6.19 1 Cell membrane NA 1 PE1 -NX_A6NFC5 23360 223 5.56 17 Membrane;Endoplasmic reticulum NA 3 PE2 -NX_A6NFC9 35528 320 6.35 1 Cell membrane NA 4 PE5 -NX_A6NFD8 26913 242 9.39 4 Nucleus NA 0 PE2 -NX_A6NFE2 39487 343 4.74 12 Membrane NA 1 PE2 -NX_A6NFE3 14721 127 5.28 7 NA NA 0 PE1 -NX_A6NFF2 12045 107 6.13 X NA NA 0 PE5 -NX_A6NFH5 15565 140 7.71 8 NA NA 0 PE1 -NX_A6NFI3 108437 1004 5.18 7 Nucleus NA 0 PE1 -NX_A6NFK2 28284 248 6.26 5 Stereocilium Deafness, autosomal recessive, 101 0 PE3 -NX_A6NFN3 33873 312 6.71 17 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_A6NFN9 47648 424 9.13 3 NA NA 0 PE2 -NX_A6NFQ2 100906 919 6.75 7 Cell junction;Endoplasmic reticulum;Cell membrane;Cell membrane NA 0 PE1 -NX_A6NFQ7 21648 191 9.55 19 Nucleus NA 0 PE3 -NX_A6NFR6 39250 353 9.54 5 Membrane NA 1 PE1 -NX_A6NFT4 35914 308 7.01 12 Cilium axoneme NA 0 PE2 -NX_A6NFU0 47349 413 8.23 17 Membrane NA 1 PE1 -NX_A6NFU8 21631 196 8.26 15 NA NA 0 PE2 -NX_A6NFX1 52964 497 9.03 2 Membrane NA 10 PE1 -NX_A6NFY4 48664 417 8.63 2 Nucleoplasm;Nucleus inner membrane NA 5 PE1 -NX_A6NFY7 12806 115 11.39 19 Mitochondrion matrix;Mitochondrion Mitochondrial complex II deficiency 0 PE1 -NX_A6NFZ4 11258 105 8.08 10 Secreted NA 0 PE1 -NX_A6NG13 43743 374 9.62 4 Endoplasmic reticulum membrane;Golgi apparatus membrane NA 1 PE2 -NX_A6NGA9 31353 273 8.84 15 Membrane NA 4 PE2 -NX_A6NGB0 39292 347 8.72 22 Membrane NA 1 PE3 -NX_A6NGB7 30293 291 8.62 19 Nucleus membrane;Membrane NA 4 PE1 -NX_A6NGB9 49458 483 10.16 7 Mitochondrion;Cytoplasm NA 0 PE1 -NX_A6NGC4 28733 264 10.14 17 Nucleolus;Cytoplasmic vesicle;Membrane NA 6 PE1 -NX_A6NGD5 55729 496 8.32 19 Nucleus NA 0 PE5 -NX_A6NGE4 67373 600 4.75 X NA NA 0 PE1 -NX_A6NGE7 19130 173 5.78 13 Peroxisome NA 0 PE5 -NX_A6NGG3 8520 77 9.6 9 NA NA 0 PE4 -NX_A6NGG8 139655 1288 8.4 2 Photoreceptor outer segment Retinitis pigmentosa 54 0 PE1 -NX_A6NGH7 38277 325 5.35 X NA NA 0 PE1 -NX_A6NGH8 46141 418 9.1 7 NA NA 0 PE2 -NX_A6NGJ6 51566 449 5.01 11 NA NA 0 PE2 -NX_A6NGK3 12651 116 4.3 X NA NA 0 PE1 -NX_A6NGN4 55354 478 8.95 1 NA NA 0 PE3 -NX_A6NGN9 36795 336 6.96 19 Nucleus;Secreted NA 0 PE1 -NX_A6NGQ2 17170 149 6.59 6 Cytoplasm NA 0 PE1 -NX_A6NGR9 77186 719 9.88 8 Nucleus NA 0 PE1 -NX_A6NGS2 14477 130 4.26 19 Nucleoplasm;Cytosol NA 0 PE1 -NX_A6NGU5 61502 568 6.68 22 Membrane NA 1 PE5 -NX_A6NGU7 7222 62 10.44 X NA NA 0 PE4 -NX_A6NGW2 192437 1772 5.26 15 Secreted NA 0 PE5 -NX_A6NGY1 30798 282 7.09 3 Nucleus NA 0 PE3 -NX_A6NGY3 17908 159 10.21 5 NA NA 0 PE1 -NX_A6NGY5 35849 319 8.3 11 Cell membrane NA 7 PE3 -NX_A6NGZ8 10777 99 8.46 X Cell membrane NA 1 PE3 -NX_A6NH00 34659 312 8.66 1 Cell membrane NA 7 PE3 -NX_A6NH11 31642 291 10.19 17 Cytoplasmic vesicle NA 0 PE1 -NX_A6NH13 15587 148 9.94 10 NA NA 0 PE2 -NX_A6NH21 56870 518 8.75 15 Membrane NA 10 PE2 -NX_A6NH52 24111 213 6.51 16 Cytoplasmic vesicle;Membrane NA 4 PE2 -NX_A6NH57 20591 179 5.44 17 NA NA 0 PE3 -NX_A6NHA9 34533 309 8.19 11 Cell membrane NA 7 PE3 -NX_A6NHC0 79144 703 5.1 1 Nucleus membrane;Nucleoplasm;Cytoplasm;Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_A6NHG4 14195 134 5.89 22 Cytoplasm NA 0 PE2 -NX_A6NHG9 35099 310 8.72 3 Cell membrane NA 7 PE2 -NX_A6NHJ4 73757 632 9.46 3 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_A6NHL2 49909 446 5.68 10 Cytoskeleton NA 0 PE1 -NX_A6NHM9 56320 499 4.65 7 NA NA 0 PE5 -NX_A6NHN0 49422 477 8.6 3 Secreted NA 0 PE3 -NX_A6NHN6 51267 443 10.5 16 Secreted NA 0 PE2 -NX_A6NHP3 48290 402 9.78 7 NA NA 0 PE3 -NX_A6NHQ2 34803 334 10.35 5 Nucleolus NA 0 PE1 -NX_A6NHQ4 39322 379 9.77 17 Cytosol;Chromosome;Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_A6NHR8 46757 397 9.11 X NA NA 0 PE5 -NX_A6NHR9 226374 2005 6.95 18 Chromosome;Nucleus;Nucleoplasm Facioscapulohumeral muscular dystrophy 2;Bosma arhinia microphthalmia syndrome 0 PE1 -NX_A6NHS1 10211 94 4.1 11 NA NA 0 PE5 -NX_A6NHS7 37879 340 8.33 12 Membrane NA 1 PE3 -NX_A6NHT5 37825 357 7.85 10 Microtubule organizing center;Nucleus;Nucleus NA 0 PE1 -NX_A6NHX0 36056 329 5.02 7 Cytosol NA 0 PE1 -NX_A6NHY2 59088 528 8.33 5 NA NA 0 PE4 -NX_A6NHY6 7904 69 8.42 9 NA NA 0 PE4 -NX_A6NHZ5 56758 514 6.74 5 NA NA 0 PE1 -NX_A6NI03 51557 449 5.1 11 NA NA 0 PE5 -NX_A6NI15 20778 193 9.03 2 Nucleus NA 0 PE3 -NX_A6NI28 98569 874 8.18 11 Nucleus speckle NA 0 PE1 -NX_A6NI47 57067 508 6.64 14 NA NA 0 PE3 -NX_A6NI56 76013 674 8.62 16 Early endosome;Golgi apparatus;Cell membrane NA 0 PE1 -NX_A6NI61 24699 221 8.98 9 Cell membrane Carey-Fineman-Ziter syndrome 6 PE1 -NX_A6NI72 44817 391 9.2 7 Cytoplasm NA 0 PE5 -NX_A6NI73 32755 299 6.5 19 Secreted;Cell membrane NA 1 PE1 -NX_A6NI79 34796 296 5.57 5 Cytoskeleton;Cell membrane;Golgi apparatus;Spindle;Midbody NA 0 PE1 -NX_A6NI86 60902 522 4.83 15 NA NA 0 PE3 -NX_A6NI87 27343 242 10.65 5 NA NA 0 PE1 -NX_A6NIE6 38035 340 5.02 16 NA NA 0 PE5 -NX_A6NIE9 34063 313 6.58 16 Secreted NA 0 PE5 -NX_A6NIH7 28137 251 5.45 12 Cilium NA 0 PE1 -NX_A6NIJ5 50026 464 9.93 8 NA NA 0 PE5 -NX_A6NIJ9 35468 312 9.17 12 Cell membrane NA 7 PE3 -NX_A6NIK2 32714 292 6.88 11 Nucleolus;Nucleus NA 0 PE2 -NX_A6NIL9 12312 109 8.89 16 Membrane NA 1 PE5 -NX_A6NIM6 65263 579 7.77 12 Membrane NA 11 PE3 -NX_A6NIN4 10921 97 5.89 17 NA NA 0 PE5 -NX_A6NIR3 75492 686 6.28 10 NA NA 0 PE2 -NX_A6NIU2 8470 74 4.97 21 NA NA 0 PE5 -NX_A6NIV6 63977 560 8.43 3 NA NA 0 PE1 -NX_A6NIX2 45124 430 8.53 19 Nucleus;P-body;Adherens junction NA 0 PE1 -NX_A6NIY4 40483 337 9.59 7 NA NA 0 PE5 -NX_A6NIZ1 20925 184 5.37 5 Cell membrane;Cytosol NA 0 PE2 -NX_A6NJ08 22976 208 11.47 19 NA NA 0 PE5 -NX_A6NJ46 28948 265 9.3 8 Nucleus NA 0 PE2 -NX_A6NJ64 45575 397 9.95 16 Nucleus NA 0 PE5 -NX_A6NJ69 5937 53 9.13 5 Secreted;Cytoplasmic vesicle NA 0 PE2 -NX_A6NJ78 46121 407 8.8 11 Cytoskeleton;Cell membrane;Golgi apparatus NA 0 PE1 -NX_A6NJ88 69022 616 5.68 X NA NA 0 PE5 -NX_A6NJB7 38716 356 10.48 19 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_A6NJG2 33803 315 9.62 X NA NA 0 PE1 -NX_A6NJG6 35617 315 6.84 3 Nucleus NA 0 PE2 -NX_A6NJI1 13172 115 11.47 11 NA NA 0 PE2 -NX_A6NJI9 33656 287 8.92 7 NA NA 0 PE1 -NX_A6NJJ6 39779 358 4.78 19 NA NA 0 PE3 -NX_A6NJL1 55826 495 8.88 19 Nucleus NA 0 PE3 -NX_A6NJQ4 49661 464 9.91 8 NA NA 0 PE5 -NX_A6NJR5 34699 290 5.99 7 NA NA 0 PE5 -NX_A6NJT0 53690 531 6.74 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_A6NJU9 125964 1138 9.9 16 Membrane NA 1 PE3 -NX_A6NJV1 23421 201 10 2 Cytoplasmic vesicle;Nucleus;Cytosol NA 0 PE1 -NX_A6NJW4 29314 275 6.15 17 Membrane NA 1 PE2 -NX_A6NJW9 23768 211 9.88 2 Cell membrane NA 1 PE5 -NX_A6NJY1 30828 282 7.66 Y Membrane NA 7 PE5 -NX_A6NJY4 8713 79 4.43 17 Membrane NA 2 PE5 -NX_A6NJZ3 35198 312 8.87 12 Cell membrane NA 7 PE2 -NX_A6NJZ7 180950 1639 6.34 22 Cytoskeleton NA 0 PE1 -NX_A6NK02 53678 468 7.79 4 NA NA 0 PE5 -NX_A6NK06 52628 481 7.01 13 Mitochondrion NA 0 PE1 -NX_A6NK44 18322 160 7.7 X Mitochondrion NA 0 PE1 -NX_A6NK53 76861 670 8.61 19 Nucleoplasm;Nucleus NA 0 PE2 -NX_A6NK58 25195 231 8.63 11 Cytoplasmic vesicle;Centrosome;Mitochondrion NA 0 PE1 -NX_A6NK59 65331 587 6.24 3 NA NA 0 PE2 -NX_A6NK75 65799 572 9.33 19 Nucleus NA 0 PE1 -NX_A6NK89 56900 507 5.29 11 Cytosol;Centrosome;Spindle pole NA 0 PE1 -NX_A6NK97 60459 555 8.63 11 Membrane NA 11 PE2 -NX_A6NKB5 237277 2137 6.29 1 Membrane;Endoplasmic reticulum NA 15 PE2 -NX_A6NKC0 49804 464 9.88 8 NA NA 0 PE5 -NX_A6NKC9 49807 451 5.99 15 NA NA 0 PE4 -NX_A6NKD2 35100 308 5.3 Y Cytoplasm;Nucleus NA 0 PE2 -NX_A6NKD9 45210 419 6.48 14 Tight junction;Cell junction;Nucleus speckle NA 0 PE1 -NX_A6NKF1 43553 404 9.04 11 Cytosol;Centrosome;Spindle NA 0 PE1 -NX_A6NKF2 44073 412 5.34 9 Nucleus NA 0 PE3 -NX_A6NKF7 17097 163 8.53 1 Membrane NA 2 PE1 -NX_A6NKG5 155048 1358 5.09 14 Cytosol;Membrane NA 2 PE1 -NX_A6NKH3 10583 93 10.22 11 NA NA 0 PE5 -NX_A6NKK0 35387 313 8.8 3 Cell membrane NA 7 PE2 -NX_A6NKL6 63928 621 10.1 18 Membrane;Cytoskeleton NA 2 PE1 -NX_A6NKN8 7476 68 6.28 1 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_A6NKP2 46869 422 9.66 16 NA NA 0 PE3 -NX_A6NKQ9 20468 187 9.02 19 Secreted NA 0 PE2 -NX_A6NKT7 197487 1758 5.95 2 NA NA 0 PE2 -NX_A6NKU9 63895 549 6.06 7 NA NA 0 PE2 -NX_A6NKW6 17663 160 5.88 5 Membrane NA 1 PE3 -NX_A6NKX1 13778 122 10.05 X NA NA 0 PE3 -NX_A6NKX4 58987 558 9.89 16 Membrane NA 12 PE2 -NX_A6NL05 18299 159 9.63 9 Membrane NA 1 PE3 -NX_A6NL08 35372 312 9.29 12 Cell membrane NA 7 PE3 -NX_A6NL26 34174 309 6.73 11 Cell membrane NA 7 PE3 -NX_A6NL46 37797 340 10.95 6 NA NA 0 PE3 -NX_A6NL82 15996 134 8.67 1 NA NA 0 PE1 -NX_A6NL88 56214 538 10.06 19 Membrane NA 1 PE1 -NX_A6NL99 37357 342 7.83 9 Membrane NA 8 PE5 -NX_A6NLC5 27769 250 4.85 3 Cytosol NA 0 PE1 -NX_A6NLC8 21962 198 5.72 5 NA NA 0 PE1 -NX_A6NLE4 20025 172 4.76 5 Cell membrane NA 1 PE2 -NX_A6NLF2 59772 546 9.86 18 Nucleus NA 0 PE3 -NX_A6NLI5 51329 447 5.31 11 NA NA 0 PE5 -NX_A6NLJ0 38769 364 11.07 15 Nucleus NA 0 PE1 -NX_A6NLP5 20896 189 5.02 11 Nucleoplasm NA 0 PE1 -NX_A6NLU0 32238 287 7.89 19 NA NA 0 PE1 -NX_A6NLU5 30297 285 7.88 19 Membrane NA 1 PE1 -NX_A6NLW8 23817 204 9.51 19 Nucleus NA 0 PE3 -NX_A6NLX3 27806 237 4.93 17 NA NA 0 PE2 -NX_A6NLX4 15516 147 4.19 9 Membrane NA 1 PE1 -NX_A6NM03 35270 316 8.79 11 Cell membrane NA 7 PE3 -NX_A6NM10 31475 295 8.18 2 Membrane NA 6 PE2 -NX_A6NM11 188393 1700 5.33 17 Membrane NA 1 PE1 -NX_A6NM28 45791 416 10.23 X Nucleus NA 0 PE1 -NX_A6NM36 34034 301 9.48 18 NA NA 0 PE4 -NX_A6NM43 59514 557 5.91 7 Cytoplasm NA 0 PE5 -NX_A6NM45 24421 220 4.87 4 Tight junction;Cell membrane NA 4 PE5 -NX_A6NM62 140742 1247 8.11 1 Membrane NA 1 PE4 -NX_A6NM66 11668 108 8.23 21 NA NA 0 PE4 -NX_A6NM76 35119 312 9.04 12 Cell membrane NA 7 PE3 -NX_A6NMA1 12326 111 3.47 X NA NA 0 PE1 -NX_A6NMB1 52992 481 9.28 19 Membrane NA 1 PE2 -NX_A6NMB9 66603 653 6.3 12 NA NA 0 PE5 -NX_A6NMD0 24599 228 6.59 11 Cell membrane NA 2 PE1 -NX_A6NMD2 71775 632 8.5 15 NA NA 0 PE3 -NX_A6NMK7 20727 179 8.93 17 NA NA 0 PE2 -NX_A6NMK8 59204 535 8.39 5 NA NA 0 PE2 -NX_A6NML5 21425 194 8.15 3 Nucleolus;Endoplasmic reticulum;Membrane NA 5 PE2 -NX_A6NMN3 32092 283 4.67 10 Acrosome;Acrosome outer membrane NA 0 PE1 -NX_A6NMS3 36711 321 8.44 3 Cell membrane NA 7 PE3 -NX_A6NMS7 188258 1700 5.32 17 Membrane NA 1 PE1 -NX_A6NMT0 37283 343 9.54 11 Nucleus NA 0 PE3 -NX_A6NMU1 34901 304 8.28 11 Cell membrane NA 7 PE2 -NX_A6NMX2 27596 242 6.68 5 NA NA 0 PE1 -NX_A6NMY6 38659 339 6.49 9 Basement membrane;Melanosome NA 0 PE5 -NX_A6NMZ2 16468 147 8.43 3 Cilium NA 0 PE1 -NX_A6NMZ5 35341 311 7.99 11 Cell membrane NA 7 PE3 -NX_A6NMZ7 247173 2263 6.44 3 Extracellular matrix NA 0 PE1 -NX_A6NN06 10596 94 11.9 9 NA NA 0 PE5 -NX_A6NN14 145022 1252 9.58 19 Nucleus NA 0 PE2 -NX_A6NN73 67128 597 8.72 15 NA NA 0 PE3 -NX_A6NN90 63053 581 5.44 2 Nucleolus;Nucleus NA 0 PE1 -NX_A6NN92 23755 205 8.68 6 Cell membrane;Gap junction NA 4 PE3 -NX_A6NNA2 65249 597 11.68 7 Cell membrane;Cytoskeleton;Cytoskeleton NA 0 PE2 -NX_A6NNA5 28672 263 8.74 10 Nucleolus;Cytosol;Nucleus;Nucleus NA 0 PE3 -NX_A6NNB3 14378 132 8.48 11 Cell membrane Osteogenesis imperfecta 5 2 PE1 -NX_A6NNC1 94058 897 10.28 5 Membrane NA 1 PE5 -NX_A6NND4 35503 320 6.21 11 Cell membrane NA 7 PE2 -NX_A6NNE9 43878 402 6.47 5 Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA 2 PE1 -NX_A6NNF4 85539 738 9.27 19 Nucleus NA 0 PE2 -NX_A6NNH2 49646 459 9.97 19 NA NA 0 PE1 -NX_A6NNJ1 49738 464 9.91 8 NA NA 0 PE5 -NX_A6NNL0 93984 878 8.12 10 NA NA 0 PE3 -NX_A6NNL5 18091 157 9.9 15 Cytoplasmic vesicle;Cytosol;Nucleolus;Secreted NA 0 PE1 -NX_A6NNM3 180952 1639 6.34 22 Cytoskeleton NA 0 PE2 -NX_A6NNM8 93645 815 9.12 15 NA NA 0 PE1 -NX_A6NNN8 46731 435 7.42 16 Membrane Foveal hypoplasia 2 11 PE1 -NX_A6NNP5 25253 214 9.33 13 NA NA 0 PE2 -NX_A6NNS2 34878 312 8.72 17 Secreted NA 0 PE1 -NX_A6NNT2 125041 1141 6.58 16 NA NA 0 PE1 -NX_A6NNV3 37499 312 8.38 7 NA NA 0 PE5 -NX_A6NNW6 68821 628 5.7 10 Mitochondrion NA 0 PE1 -NX_A6NNX1 10810 92 9.57 1 Nucleoplasm;Cytosol NA 0 PE1 -NX_A6NNY8 49630 438 6.75 X Cytosol;Nucleus;Cytoplasmic vesicle Mental retardation, X-linked 105 0 PE1 -NX_A6NNZ2 49573 444 4.75 18 Cytoskeleton NA 0 PE1 -NX_A6NP11 57006 495 9.34 7 Nucleus NA 0 PE2 -NX_A6NP61 36010 321 9.27 13 NA NA 0 PE1 -NX_A6PVC2 94676 850 8.55 22 Cytoskeleton;Cilium;Cilium axoneme NA 0 PE2 -NX_A6PVI3 17685 153 6.89 X NA NA 0 PE3 -NX_A6PVL3 12832 124 9.51 1 Membrane NA 2 PE2 -NX_A6PVS8 73675 624 9.73 1 Cell membrane NA 0 PE1 -NX_A6PVY3 18145 158 4.84 1 NA NA 0 PE1 -NX_A6QL63 120884 1104 6.36 12 Nucleoplasm;Membrane NA 1 PE1 -NX_A6QL64 217465 1941 8.84 2 NA NA 0 PE1 -NX_A6XGL0 32585 299 5.75 19 Mitochondrion NA 0 PE1 -NX_A6ZKI3 13171 113 4.94 X NA NA 0 PE1 -NX_A7E2F4 70117 631 5.89 15 Golgi stack membrane NA 0 PE2 -NX_A7E2S9 28549 258 7.05 2 NA NA 0 PE2 -NX_A7E2U8 34376 309 9.64 4 Centrosome;Cytoplasmic vesicle NA 0 PE1 -NX_A7E2V4 197297 1837 6.35 10 Cell membrane;Cytosol NA 0 PE1 -NX_A7E2Y1 221388 1941 5.77 20 Membrane NA 0 PE1 -NX_A7KAX9 230529 2087 6.27 11 Nucleolus;Golgi apparatus membrane;Postsynaptic density;Dendritic spine;Endosome membrane;Cell cortex;Membrane;Endoplasmic reticulum membrane;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_A7MBM2 152003 1401 8.18 15 Membrane;Cytoplasmic vesicle;Nucleoplasm NA 12 PE1 -NX_A7MCY6 67702 615 5.62 17 Nucleoplasm NA 0 PE1 -NX_A7MD48 68559 611 11.75 12 Nucleus NA 0 PE1 -NX_A7XYQ1 92658 873 7.77 6 Cytoplasmic vesicle;Nucleoplasm Mental retardation, anterior maxillary protrusion, and strabismus 0 PE1 -NX_A8CG34 125059 1229 10.38 7 Nucleus membrane;Endoplasmic reticulum membrane;Nuclear pore complex NA 1 PE1 -NX_A8K010 21118 186 10.18 6 NA NA 0 PE5 -NX_A8K0R7 87484 811 6.11 14 Cytoplasm;Cell membrane;Nucleoplasm NA 0 PE1 -NX_A8K0S8 39220 358 4.89 17 Nucleus NA 0 PE2 -NX_A8K0Z3 50328 465 5.49 9 Early endosome membrane;Centriole;Recycling endosome membrane;Late endosome;Autophagosome NA 0 PE1 -NX_A8K2U0 161107 1454 5.5 12 Secreted NA 0 PE1 -NX_A8K4G0 22689 201 6.83 17 Cell membrane NA 1 PE1 -NX_A8K554 15437 130 6.04 7 NA NA 0 PE5 -NX_A8K5M9 19679 175 8.66 15 Mitochondrion NA 0 PE1 -NX_A8K7I4 100226 914 5.97 1 Extracellular space;Cell membrane NA 0 PE1 -NX_A8K830 16850 154 4.27 11 Cytoplasm NA 0 PE2 -NX_A8K855 71981 629 6.01 1 Nucleolus;Cytosol;Cilium membrane;Cell membrane;Nucleus NA 0 PE1 -NX_A8K8P3 147664 1242 10.82 22 Centriole NA 0 PE1 -NX_A8K8V0 46168 405 9.28 16 Cell membrane;Nucleoplasm;Nucleus NA 0 PE1 -NX_A8K979 77401 691 9.12 16 Nucleus;Golgi apparatus NA 0 PE1 -NX_A8MPP1 101811 907 7.28 12 Nucleolus NA 0 PE1 -NX_A8MPS7 34466 323 5.96 22 Nucleoplasm NA 0 PE1 -NX_A8MPX8 71643 630 8.93 3 Nucleoplasm;Cytoskeleton NA 0 PE2 -NX_A8MPY1 54272 467 8.33 3 Postsynaptic cell membrane;Cell membrane NA 4 PE3 -NX_A8MQ03 15313 144 6.67 9 Endoplasmic reticulum;Midbody;Nucleus speckle;Cytoplasmic vesicle NA 0 PE1 -NX_A8MQ11 15170 134 10.61 7 NA NA 0 PE5 -NX_A8MQ14 125431 1090 9.02 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_A8MQ27 59270 555 8.76 5 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_A8MQB3 24325 221 9.82 17 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_A8MQT2 67278 603 6.46 15 Golgi stack membrane NA 0 PE2 -NX_A8MRT5 126459 1133 10.12 16 Membrane NA 1 PE2 -NX_A8MSI8 9374 78 9.69 17 NA NA 0 PE1 -NX_A8MT19 65945 583 6.51 15 NA NA 0 PE5 -NX_A8MT33 27397 242 4.99 16 Cytoskeleton NA 0 PE1 -NX_A8MT65 63592 544 9.01 12 Nucleus NA 0 PE2 -NX_A8MT66 19292 165 6.16 21 NA NA 0 PE5 -NX_A8MT69 8959 81 5.59 17 Nucleus;Centromere;Kinetochore NA 0 PE1 -NX_A8MT70 91426 800 5.43 3 NA NA 0 PE1 -NX_A8MT82 75435 685 6.41 10 NA NA 0 PE3 -NX_A8MTA8 30575 275 8.38 9 NA NA 0 PE1 -NX_A8MTB9 43320 384 5.94 19 Midbody NA 0 PE2 -NX_A8MTI9 41188 375 9 9 Secreted NA 0 PE5 -NX_A8MTJ3 40357 354 5.69 7 Cytoplasm NA 0 PE1 -NX_A8MTJ6 43326 420 8.51 2 Nucleus NA 0 PE2 -NX_A8MTL0 18048 148 10.05 3 NA NA 0 PE1 -NX_A8MTL3 33570 300 9.78 14 NA NA 0 PE2 -NX_A8MTL9 15355 139 5.27 18 Secreted NA 0 PE2 -NX_A8MTQ0 27003 251 9.43 2 Nucleus NA 0 PE2 -NX_A8MTT3 9336 80 9.7 2 Nucleoplasm;Mitochondrion membrane NA 1 PE1 -NX_A8MTW9 8750 85 10.5 2 Secreted NA 0 PE5 -NX_A8MTY0 71172 619 9.29 19 Nucleus NA 0 PE1 -NX_A8MTY7 17793 169 8.01 17 NA NA 0 PE3 -NX_A8MTZ0 10506 92 9.42 10 Cilium;Cytoplasm Bardet-Biedl syndrome 18 0 PE1 -NX_A8MTZ7 30355 269 5.21 12 NA NA 0 PE1 -NX_A8MU10 10262 97 9.79 17 NA NA 0 PE4 -NX_A8MU46 48953 457 4.7 11 Myofibril;I band;M line;Nucleus NA 0 PE1 -NX_A8MU76 37608 341 10.73 16 NA NA 0 PE3 -NX_A8MU93 18001 164 11.39 17 Cytosol;Nucleus;Cytoskeleton NA 0 PE1 -NX_A8MUA0 37841 341 10.75 2 NA NA 0 PE3 -NX_A8MUH7 44056 402 5.4 1 NA NA 0 PE5 -NX_A8MUI8 37626 341 9.9 1 NA NA 0 PE3 -NX_A8MUK1 59683 530 8.35 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_A8MUL3 15836 147 7.71 10 NA NA 0 PE5 -NX_A8MUM7 16576 142 5.53 19 NA NA 0 PE2 -NX_A8MUN3 14205 132 9.1 17 Secreted NA 0 PE5 -NX_A8MUP2 25910 240 5.51 11 Mitochondrion NA 0 PE2 -NX_A8MUP6 32443 293 6.3 17 Membrane NA 4 PE3 -NX_A8MUU1 11299 101 7.66 7 NA NA 0 PE5 -NX_A8MUU9 55306 505 13.3 22 NA NA 0 PE5 -NX_A8MUV8 57972 499 9.3 7 Nucleus NA 0 PE5 -NX_A8MUX0 53912 517 5.37 17 NA NA 0 PE1 -NX_A8MUZ8 34765 300 9.37 8 Nucleus NA 0 PE2 -NX_A8MV23 46963 424 6.7 13 Secreted NA 0 PE1 -NX_A8MV24 17565 154 9.8 17 NA NA 0 PE1 -NX_A8MV57 15138 137 5.89 1 NA NA 0 PE5 -NX_A8MV65 36009 326 5.9 3 Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_A8MV72 34164 311 10.58 8 NA NA 0 PE5 -NX_A8MV81 11079 97 9.72 12 Membrane NA 2 PE3 -NX_A8MVA2 16800 160 7.95 17 NA NA 0 PE1 -NX_A8MVJ9 39722 347 8.28 9 NA NA 0 PE5 -NX_A8MVM7 73452 634 9.81 4 NA NA 0 PE5 -NX_A8MVS1 34857 300 9.31 8 Nucleus NA 0 PE3 -NX_A8MVS5 24753 230 6.82 19 Cytosol;Cell membrane;Golgi apparatus;Membrane NA 1 PE1 -NX_A8MVU1 41851 366 8.95 7 Cytoplasm NA 0 PE5 -NX_A8MVW0 87435 826 8.14 17 Membrane NA 1 PE1 -NX_A8MVW5 51407 462 6.09 7 Spindle;Centrosome;Midbody;Golgi apparatus membrane NA 1 PE1 -NX_A8MVX0 94633 844 6.37 2 Cytoplasmic vesicle NA 0 PE2 -NX_A8MVZ5 32612 291 8.7 1 Membrane NA 1 PE5 -NX_A8MW92 115010 1017 6.39 8 Cell membrane;Nucleoplasm NA 0 PE1 -NX_A8MW95 48153 431 4.78 1 Cytoplasm NA 0 PE1 -NX_A8MW99 44024 385 5.82 6 Chromosome NA 0 PE3 -NX_A8MWA4 34897 302 9.01 11 Nucleus NA 0 PE3 -NX_A8MWA6 49874 464 9.86 8 NA NA 0 PE5 -NX_A8MWD9 8544 76 8.93 19 Nucleus NA 0 PE5 -NX_A8MWE9 16428 144 5.04 20 NA NA 0 PE4 -NX_A8MWK0 56358 482 8.02 11 Endoplasmic reticulum membrane NA 4 PE5 -NX_A8MWL6 24647 223 4.38 15 Membrane NA 4 PE5 -NX_A8MWL7 12177 114 9.57 10 Membrane NA 4 PE5 -NX_A8MWP4 24535 228 9.77 21 NA NA 0 PE5 -NX_A8MWP6 18109 167 5.64 17 NA NA 0 PE2 -NX_A8MWS1 36055 328 6.7 19 Secreted NA 0 PE2 -NX_A8MWV9 15007 139 8.6 21 Membrane NA 1 PE5 -NX_A8MWX3 51595 477 6.24 16 Early endosome membrane;Recycling endosome membrane NA 0 PE5 -NX_A8MWY0 113842 1029 5.75 7 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_A8MX19 49786 464 9.98 8 NA NA 0 PE5 -NX_A8MX34 35211 341 5.89 17 NA NA 0 PE3 -NX_A8MX76 79568 684 8.86 2 NA NA 0 PE2 -NX_A8MX80 37634 341 10.46 13 NA NA 0 PE3 -NX_A8MXD5 32294 290 7.48 4 Stereocilium;Microvillus;Kinocilium Deafness, autosomal recessive, 25 0 PE1 -NX_A8MXE2 42761 369 7.08 9 Golgi apparatus membrane NA 1 PE5 -NX_A8MXJ8 49840 464 9.86 8 NA NA 0 PE5 -NX_A8MXK1 22377 200 8.15 11 Endoplasmic reticulum;Cell membrane;Dendrite;Axon NA 1 PE3 -NX_A8MXK9 18008 166 6.09 17 NA NA 0 PE2 -NX_A8MXQ7 68295 604 6.18 8 NA NA 0 PE5 -NX_A8MXT2 37578 336 9.25 X NA NA 0 PE4 -NX_A8MXU0 8390 73 8.9 8 Secreted NA 0 PE5 -NX_A8MXV4 42233 375 7.28 19 Nucleus;Nucleolus;Cytosol;Peroxisome NA 0 PE1 -NX_A8MXV6 30100 281 9.53 17 Membrane NA 1 PE2 -NX_A8MXY4 100791 864 9.54 19 Nucleus NA 0 PE2 -NX_A8MXZ1 49910 464 9.98 8 NA NA 0 PE5 -NX_A8MXZ3 26333 250 8.05 17 NA NA 0 PE3 -NX_A8MY62 54653 500 8.75 1 NA NA 0 PE1 -NX_A8MYA2 54417 514 9.18 X NA NA 0 PE1 -NX_A8MYB1 35763 307 4.98 15 Membrane NA 1 PE3 -NX_A8MYJ7 60903 566 6.98 1 NA NA 0 PE2 -NX_A8MYP8 27280 253 10.42 22 NA NA 0 PE1 -NX_A8MYU2 129543 1149 8.08 8 Cell membrane NA 7 PE1 -NX_A8MYV0 40425 355 9.46 2 NA NA 0 PE1 -NX_A8MYX2 18345 175 6.23 10 NA NA 0 PE2 -NX_A8MYZ0 41070 360 8.05 3 NA NA 0 PE3 -NX_A8MYZ5 13059 107 11.71 3 NA NA 0 PE1 -NX_A8MYZ6 50595 492 5.25 1 Nucleus;Cytoplasm NA 0 PE1 -NX_A8MZ25 18125 164 11.55 17 NA NA 0 PE5 -NX_A8MZ26 23937 197 8.95 5 NA NA 0 PE1 -NX_A8MZ36 33953 301 5.8 17 Nucleoplasm;Nucleus NA 0 PE2 -NX_A8MZ59 18626 168 5.68 19 Nucleus;Nucleus;Nucleolus NA 0 PE2 -NX_A8MZ97 21915 194 6.01 2 Centrosome;Membrane NA 1 PE1 -NX_A8MZA4 90952 724 5.06 15 NA NA 0 PE3 -NX_A8MZF0 35187 331 8.54 11 NA NA 0 PE1 -NX_A8MZG2 18426 172 9.05 16 NA NA 0 PE2 -NX_A8MZH6 14433 123 8.23 11 Secreted NA 0 PE5 -NX_A8TX70 289926 2615 6.5 3 Extracellular matrix NA 0 PE1 -NX_A9QM74 56938 516 5.73 7 Nucleus NA 0 PE1 -NX_A9UHW6 25423 222 5.23 17 Cytosol;Cytoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_A9YTQ3 76265 701 9.14 5 Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_A9Z1Z3 200980 1794 5.88 20 Membrane NA 1 PE2 -NX_B0FP48 28385 263 8.4 7 Membrane NA 1 PE1 -NX_B0I1T2 116442 1018 8.96 7 Phagocytic cup;Cell membrane NA 0 PE1 -NX_B0YJ81 32388 288 9.1 10 Endoplasmic reticulum membrane Myopathy, congenital, with fiber-type disproportion 6 PE1 -NX_B1AH88 10537 102 8.81 22 NA NA 0 PE5 -NX_B1AJZ1 14253 125 7.82 1 NA NA 0 PE5 -NX_B1AJZ9 161904 1412 6.52 1 Nucleus NA 0 PE1 -NX_B1AK53 91733 854 6.47 1 Cytoskeleton;Stereocilium;Microvillus;Cytoplasmic vesicle Deafness, autosomal recessive, 36, with or without vestibular involvement 0 PE1 -NX_B1AK76 14245 121 8.82 X NA NA 0 PE5 -NX_B1AKI9 52107 464 5.22 20 Secreted NA 0 PE1 -NX_B1AL46 93979 878 7.97 10 NA NA 0 PE3 -NX_B1AL88 51493 458 6.2 13 Membrane;Nucleus;Cytoplasmic vesicle;Centrosome NA 2 PE2 -NX_B1AMM8 8554 73 6.39 9 NA NA 0 PE5 -NX_B1ANH7 12198 110 9.26 1 NA NA 0 PE5 -NX_B1ANS9 123631 1081 8.47 1 NA NA 0 PE1 -NX_B1ANY3 29405 271 8.89 9 NA NA 0 PE5 -NX_B1APH4 51624 448 8.07 10 Cytosol;Nucleus;Nucleoplasm;Nucleus membrane NA 0 PE5 -NX_B1ATL7 31890 298 7.26 X NA NA 0 PE4 -NX_B2CW77 19958 178 11.27 10 Nucleus;Nucleus Cowden syndrome 4 0 PE1 -NX_B2RBV5 13369 119 8.49 4 NA NA 0 PE1 -NX_B2RC85 100547 870 7.16 7 NA NA 0 PE2 -NX_B2RD01 21052 187 6.54 16 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE2 -NX_B2RN74 36530 326 8.14 14 Cell membrane NA 7 PE2 -NX_B2RNN3 34713 333 8.23 13 Secreted NA 0 PE1 -NX_B2RPK0 24238 211 5.92 20 Nucleus;Chromosome NA 0 PE5 -NX_B2RTY4 292706 2548 9.03 15 Membrane;Cell membrane NA 1 PE1 -NX_B2RU33 61188 542 6.31 18 NA NA 0 PE2 -NX_B2RUY7 24570 222 5.06 2 Secreted;Synapse NA 0 PE1 -NX_B2RUZ4 8749 78 9.22 1 Cell membrane NA 1 PE1 -NX_B2RV13 19546 164 10.07 17 NA NA 0 PE1 -NX_B2RXF0 42370 380 9.95 7 Membrane;Cell membrane NA 6 PE1 -NX_B2RXF5 46491 422 8.85 14 Nucleus;Cytoplasm;Nucleus;Nucleoplasm Lethal congenital contracture syndrome 6 0 PE1 -NX_B2RXH2 56804 506 7.95 11 Nucleus NA 0 PE1 -NX_B2RXH4 77931 712 4.94 11 Nucleus NA 0 PE2 -NX_B2RXH8 32072 293 5.29 1 Nucleus NA 0 PE1 -NX_B3EWF7 35169 344 11.93 6 Nucleus NA 0 PE1 -NX_B3EWG3 9320 89 5.78 10 NA NA 0 PE1 -NX_B3EWG5 9320 89 5.78 10 NA NA 0 PE1 -NX_B3EWG6 9320 89 5.78 10 NA NA 0 PE1 -NX_B3GLJ2 11747 98 9.3 11 Secreted NA 0 PE1 -NX_B3KS81 80355 715 12.05 19 NA NA 0 PE1 -NX_B3KU38 62248 563 5.08 3 Cytoplasm;Axon NA 0 PE1 -NX_B3SHH9 24166 223 5.9 16 Cell membrane NA 4 PE2 -NX_B4DH59 103816 902 4.35 1 Cytoplasm NA 0 PE5 -NX_B4DJY2 12074 109 4.93 12 Membrane NA 2 PE1 -NX_B4DS77 46925 424 8.95 16 Endoplasmic reticulum;Dendritic spine membrane;Synapse NA 1 PE1 -NX_B4DU55 64577 563 9.63 5 Nucleus;Nucleus NA 0 PE1 -NX_B4DX44 49868 427 9.1 7 Nucleus NA 0 PE1 -NX_B4DXR9 67839 585 9.19 4 Nucleus NA 0 PE2 -NX_B4DYI2 124429 1134 9.42 9 Membrane NA 1 PE1 -NX_B4DZS4 34563 312 4.6 X NA NA 0 PE2 -NX_B4E2M5 27916 251 9.3 6 NA NA 0 PE2 -NX_B5MCN3 45364 397 6.63 22 Nucleoplasm NA 0 PE5 -NX_B5MCY1 221722 1934 6.67 2 NA NA 0 PE2 -NX_B5MD39 24102 225 5.75 22 NA NA 0 PE5 -NX_B5ME19 105473 914 5.45 16 Cytoplasm NA 0 PE2 -NX_B6A8C7 29474 271 8.87 19 Cell membrane NA 1 PE1 -NX_B6SEH8 52557 477 8.76 19 Membrane NA 1 PE2 -NX_B6SEH9 59317 535 8.87 19 Membrane NA 2 PE2 -NX_B7U540 48880 433 5.76 17 Cell membrane Thyrotoxic periodic paralysis 2 2 PE1 -NX_B7Z1M9 37583 353 11.24 1 NA NA 0 PE1 -NX_B7Z368 13757 130 9.83 10 NA NA 0 PE2 -NX_B7Z6K7 97337 855 9.14 19 NA NA 0 PE1 -NX_B7Z8K6 17085 153 9.42 14 Membrane NA 1 PE1 -NX_B7ZAP0 29038 253 5.28 1 NA NA 0 PE1 -NX_B7ZAQ6 52917 455 9.34 1 Golgi apparatus membrane NA 9 PE1 -NX_B7ZBB8 38019 358 4.88 6 NA NA 0 PE1 -NX_B7ZC32 108254 967 8.68 1 Mitochondrion membrane NA 0 PE3 -NX_B7ZW38 32029 293 5.48 1 Nucleus NA 0 PE1 -NX_B8ZZ34 51412 492 10.83 22 Membrane NA 1 PE5 -NX_B9A014 29214 251 8.7 21 NA NA 0 PE2 -NX_B9A064 23063 214 9.08 22 Secreted NA 0 PE1 -NX_B9A6J9 62187 549 9.2 17 Cell membrane NA 0 PE2 -NX_B9EJG8 27887 249 6.08 4 Cell membrane;Lysosome membrane NA 6 PE2 -NX_B9ZVM9 38357 353 7.18 6 NA NA 0 PE3 -NX_C4AMC7 49995 463 5.36 15 Early endosome membrane;Recycling endosome membrane;Lamellipodium;Early endosome;Filopodium;Autophagosome;Centriole NA 0 PE1 -NX_C9J069 106650 976 9.26 9 Cytosol;Focal adhesion NA 0 PE1 -NX_C9J1S8 52496 452 8.74 11 NA NA 0 PE1 -NX_C9J202 24154 215 5.47 3 NA NA 0 PE3 -NX_C9J2P7 59676 530 8.22 4 Endoplasmic reticulum;Nucleus NA 0 PE3 -NX_C9J302 23001 202 8.57 4 NA NA 0 PE2 -NX_C9J3I9 11666 102 6.84 5 NA NA 0 PE1 -NX_C9J3V5 16880 150 10.33 14 Cytoplasm;Acrosome NA 0 PE2 -NX_C9J442 27532 243 8.94 22 Secreted;Nucleolus;Nucleus NA 0 PE2 -NX_C9J6K1 22444 198 6.97 19 Cytoplasmic vesicle NA 0 PE1 -NX_C9J798 90406 803 7.81 7 Cell membrane;Cytosol NA 0 PE2 -NX_C9J7I0 11180 102 4.12 7 NA NA 0 PE1 -NX_C9JBD0 14906 128 9.42 3 Nucleoplasm;Golgi apparatus NA 0 PE2 -NX_C9JC47 42896 383 11.26 3 NA NA 0 PE3 -NX_C9JCN9 8384 74 4.86 18 Nucleoplasm NA 0 PE2 -NX_C9JDP6 25394 229 5.37 11 Cell membrane;Tight junction NA 4 PE5 -NX_C9JDV5 16178 145 9.67 12 NA NA 0 PE2 -NX_C9JE40 61464 543 5 15 Nucleus;Cytoplasm NA 0 PE1 -NX_C9JFL3 7706 82 7.25 15 Cytoplasmic vesicle NA 0 PE1 -NX_C9JG80 126699 1138 10.08 16 Membrane NA 1 PE2 -NX_C9JH25 92712 899 6.27 7 Peroxisome;Cell membrane;Nucleoplasm;Membrane NA 5 PE1 -NX_C9JI98 18040 176 11.54 19 Membrane NA 2 PE1 -NX_C9JJ37 32365 291 6.21 1 Cytosol NA 0 PE2 -NX_C9JJH3 59886 530 8.46 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_C9JL84 58297 531 9.11 8 Secreted NA 0 PE2 -NX_C9JLJ4 59694 530 8.22 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_C9JLR9 73197 678 5.82 11 Cytoskeleton NA 0 PE1 -NX_C9JLW8 10920 97 9.39 17 Nucleus;Cytoplasm;Cytosol NA 0 PE1 -NX_C9JN71 61540 531 9.55 19 Nucleus;Nucleolus;Nucleus NA 0 PE3 -NX_C9JPN9 59687 530 8.35 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_C9JQI7 76453 657 8.29 5 Membrane NA 2 PE2 -NX_C9JQL5 14796 133 9.61 12 Membrane NA 2 PE5 -NX_C9JR72 49485 458 5.47 15 Cytoplasm Nemaline myopathy 6 0 PE1 -NX_C9JRZ8 36537 316 6.23 7 Cytosol;Mitochondrion NA 0 PE1 -NX_C9JSJ3 70198 638 9.1 19 Nucleus NA 0 PE3 -NX_C9JTQ0 39620 380 11.04 15 NA NA 0 PE1 -NX_C9JUS6 16532 153 9.48 19 Secreted NA 0 PE2 -NX_C9JVI0 59630 530 8.22 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_C9JVW0 14668 142 10.69 19 Membrane NA 1 PE1 -NX_C9JXX5 10902 98 9.97 11 Secreted NA 0 PE2 -NX_D3DTV9 10428 90 12 17 Nucleus NA 0 PE5 -NX_D3W0D1 24008 207 5.83 12 Cell membrane NA 1 PE1 -NX_D6R901 59659 530 8.22 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_D6R9N7 59657 530 8.35 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_D6RA61 59671 530 8.35 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_D6RBM5 20302 183 7.13 4 Nucleus;Endoplasmic reticulum NA 0 PE5 -NX_D6RBQ6 59627 530 8.22 4 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_D6RCP7 59658 530 8.35 4 Endoplasmic reticulum;Nucleus NA 0 PE3 -NX_D6REC4 52293 459 10.55 4 Flagellum NA 0 PE1 -NX_D6RF30 68878 607 8.64 15 NA NA 0 PE3 -NX_D6RGH6 41720 385 5.62 5 Nucleus;Nucleus NA 0 PE1 -NX_D6RJB6 59626 530 8.22 4 Endoplasmic reticulum;Nucleus NA 0 PE3 -NX_E0CX11 5265 47 9.1 7 Mitochondrion;Mitochondrion membrane NA 1 PE1 -NX_E2RYF6 173478 1773 3.9 6 Membrane NA 1 PE1 -NX_E2RYF7 26282 251 4.36 6 Secreted NA 0 PE2 -NX_E5RG02 19341 174 9.32 3 NA NA 0 PE5 -NX_E5RHQ5 129208 1161 10.06 16 Membrane NA 1 PE2 -NX_E5RIL1 28385 263 8.4 7 Membrane NA 1 PE1 -NX_E5RJ46 11413 101 11.36 8 NA NA 0 PE4 -NX_E5RJM6 41497 399 6.09 1 Nucleoplasm NA 0 PE1 -NX_E5RQL4 16268 147 9.21 2 Cytoplasmic vesicle NA 0 PE2 -NX_E7EML9 36995 344 8.46 3 Secreted NA 0 PE3 -NX_E7ERA6 26629 249 9.43 1 Membrane NA 1 PE1 -NX_E7ETH6 45541 402 8.73 19 Nucleus NA 0 PE1 -NX_E7EU14 19623 171 9.4 19 Cytosol NA 0 PE2 -NX_E7EW31 106917 1015 9.68 5 Nucleoplasm NA 0 PE1 -NX_E9PAV3 205422 2078 9.6 12 Cytoplasm;Nucleus NA 0 PE1 -NX_E9PB15 19074 166 4.81 17 NA NA 0 PE5 -NX_E9PGG2 41695 379 5.25 12 Nucleus NA 0 PE1 -NX_E9PI22 31050 279 6.08 8 NA NA 0 PE2 -NX_E9PIF3 42223 369 9.62 16 NA NA 0 PE3 -NX_E9PJ23 49162 425 10.38 16 NA NA 0 PE2 -NX_E9PJI5 42230 369 9.22 16 NA NA 0 PE1 -NX_E9PKD4 40105 350 9.48 16 NA NA 0 PE2 -NX_E9PQ53 13408 114 8.47 11 Mitochondrion inner membrane NA 1 PE1 -NX_E9PQR5 49617 432 10.15 16 NA NA 0 PE2 -NX_E9PQX1 13758 116 6.11 11 Membrane NA 3 PE2 -NX_E9PRG8 13798 122 11.69 11 NA NA 0 PE1 -NX_F2Z333 24218 226 9.11 1 Membrane NA 1 PE1 -NX_F2Z398 13273 122 5 13 NA NA 0 PE2 -NX_F2Z3F1 14123 127 9.23 5 NA NA 0 PE2 -NX_F2Z3M2 12668 114 5.7 17 NA NA 0 PE4 -NX_F5GYI3 40592 381 5.37 15 Nucleus NA 0 PE2 -NX_F5H284 18167 164 9.43 1 Cytoplasm NA 0 PE3 -NX_F5H4A9 25682 247 5.51 3 Membrane NA 1 PE1 -NX_F5H4B4 66188 570 9.39 22 Nucleoplasm NA 0 PE1 -NX_F7VJQ1 8691 73 9.24 20 Mitochondrion outer membrane NA 1 PE1 -NX_F8VTS6 32249 287 7.47 19 NA NA 0 PE2 -NX_F8W1W9 49181 429 10.44 16 NA NA 0 PE2 -NX_F8WBI6 71524 632 5.93 15 NA NA 0 PE2 -NX_F8WCM5 21537 200 5.93 11 NA NA 0 PE1 -NX_F8WFD2 40061 350 9.48 16 NA NA 0 PE3 -NX_G3V0H7 71247 640 8.8 12 Cell membrane NA 11 PE5 -NX_G3V211 13510 115 9.43 12 NA NA 0 PE4 -NX_H0UI37 11268 97 5.43 6 NA NA 0 PE3 -NX_H0Y354 16730 149 6.27 1 NA NA 0 PE3 -NX_H0Y7S4 44302 382 8.65 1 NA NA 0 PE5 -NX_H0YKK7 64493 550 4.78 15 NA NA 0 PE5 -NX_H0YL09 14853 131 5.27 15 NA NA 0 PE5 -NX_H0YL14 16083 139 10.48 9 Cytoplasm;Nucleoplasm;Membrane;Nucleus NA 2 PE1 -NX_H0YM25 107774 854 5.05 15 NA NA 0 PE3 -NX_H3BMG3 7091 65 10.3 7 Nucleolus NA 0 PE2 -NX_H3BN30 14216 126 9.41 16 NA NA 0 PE2 -NX_H3BNL1 23376 204 9.32 3 NA NA 0 PE1 -NX_H3BNL8 26547 230 9.09 6 NA NA 0 PE1 -NX_H3BPM6 25451 223 5.83 3 Golgi apparatus NA 0 PE2 -NX_H3BQB6 30984 276 8.61 6 Cytoskeleton NA 0 PE1 -NX_H3BQJ8 15317 138 9.07 8 Cell membrane NA 0 PE3 -NX_H3BQW9 12972 127 7.75 1 NA NA 0 PE2 -NX_H3BR10 12312 107 10.43 6 Membrane NA 2 PE1 -NX_H3BRN8 13763 121 8.49 15 Nucleus;Cytosol NA 0 PE1 -NX_H3BS89 33409 294 9.45 7 Nucleolus;Membrane;Cytoplasmic vesicle NA 3 PE1 -NX_H3BSY2 71498 632 6.65 15 NA NA 0 PE2 -NX_H3BTG2 14053 121 9.86 1 NA NA 0 PE1 -NX_H3BU77 8104 68 9.78 11 NA NA 0 PE2 -NX_H3BUK9 61708 544 5.75 15 NA NA 0 PE3 -NX_H3BV60 32819 316 11.72 19 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_H7BZ55 185872 1655 5.42 2 NA NA 0 PE5 -NX_H7C241 24226 214 8.21 X Tight junction;Cell membrane NA 4 PE3 -NX_H7C350 43548 402 8.61 22 Nucleoplasm;Membrane;Nucleus NA 1 PE1 -NX_I0J062 22842 215 12.21 11 Nucleolus NA 0 PE2 -NX_I1YAP6 52450 450 8.59 11 NA NA 0 PE2 -NX_I3L0S3 21949 204 11.32 16 NA NA 0 PE5 -NX_I3L1E1 19614 186 6.96 19 NA NA 0 PE1 -NX_I3L1I5 41200 382 6.18 19 Membrane NA 1 PE5 -NX_I3L273 56104 518 5.64 19 Golgi apparatus membrane NA 1 PE3 -NX_I3L3R5 30352 266 5.22 19 Secreted NA 0 PE1 -NX_I6L899 71490 631 5.98 15 NA NA 0 PE1 -NX_J3KSC0 14903 135 7.65 18 NA NA 0 PE5 -NX_K7EIQ3 11601 104 8.99 19 NA NA 0 PE4 -NX_K7EJ46 14570 135 6.06 16 Membrane;Cytosol;Nucleoplasm NA 1 PE1 -NX_K9M1U5 19675 179 11.29 19 Cytoplasm;Secreted NA 0 PE1 -NX_L0R6Q1 11133 103 7.81 5 Membrane NA 1 PE1 -NX_L0R819 11250 96 8.83 2 Cytoplasm NA 0 PE1 -NX_L0R8F8 8445 70 10.59 22 NA NA 0 PE1 -NX_M0QZC1 34789 329 9.43 19 Membrane NA 1 PE3 -NX_M5A8F1 18128 160 9.24 21 Secreted NA 0 PE1 -NX_O00110 23826 214 10.2 19 Nucleus NA 0 PE3 -NX_O00115 39581 360 8.3 19 Lysosome NA 0 PE1 -NX_O00116 72912 658 6.99 2 Peroxisome;Peroxisome membrane Rhizomelic chondrodysplasia punctata 3 0 PE1 -NX_O00124 30541 270 7.63 8 Nucleolus;Endoplasmic reticulum membrane;Endoplasmic reticulum NA 2 PE1 -NX_O00139 79955 706 6.28 5 Nucleus;Centrosome;Nucleolus;Cytoplasm;Centrosome;Spindle pole;Spindle Cortical dysplasia, complex, with other brain malformations 3 0 PE1 -NX_O00141 48942 431 8.7 6 Nucleus;Endoplasmic reticulum membrane;Cell membrane;Mitochondrion;Cytoplasm;Cytosol;Nucleus speckle NA 0 PE1 -NX_O00142 31005 265 8.71 16 Mitochondrion Mitochondrial DNA depletion syndrome 2;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 0 PE1 -NX_O00144 64466 591 8.63 7 Cell membrane NA 7 PE1 -NX_O00148 49130 427 5.46 19 Nucleus;Cytoplasm NA 0 PE1 -NX_O00151 36072 329 6.56 10 Cell junction;Cytoplasm;Cytoskeleton;Cytoskeleton;Cell membrane;Z line NA 0 PE1 -NX_O00154 41796 380 8.85 1 Mitochondrion;Cytoplasm;Cytoplasm;Nucleoplasm;Cytosol;Mitochondrion NA 0 PE1 -NX_O00155 38779 361 9.56 1 Cell membrane NA 7 PE1 -NX_O00159 121682 1063 9.46 17 Cytoplasm;Cytoplasmic vesicle;Nuclear pore complex;Nucleolus;Nucleoplasm;Ruffle;Stereocilium membrane;Cell membrane;Nucleus;Nucleus;Cell membrane NA 0 PE1 -NX_O00160 124844 1098 9.21 19 NA NA 0 PE1 -NX_O00161 23354 211 4.89 15 Cell membrane;Cell membrane;Cell membrane;Synaptosome NA 0 PE1 -NX_O00165 31621 279 4.76 1 Cytoplasmic vesicle;Cytoplasm;Mitochondrion;Endoplasmic reticulum;Nucleus;Mitochondrion;Cell cortex;Cell membrane;Sarcoplasmic reticulum;P-body;Nucleus membrane Neutropenia, severe congenital 3, autosomal recessive 0 PE1 -NX_O00167 59232 538 6.02 20 Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_O00168 10441 92 9.35 19 Nucleus;Cytosol;Nucleolus;Sarcolemma;Apical cell membrane;Caveola NA 1 PE1 -NX_O00170 37636 330 5.88 11 Cytoplasm;Cytosol;Cytoplasm Pituitary adenoma, growth hormone-secreting, 1;Prolactin-secreting pituitary adenoma;ACTH-secreting pituitary adenoma 0 PE1 -NX_O00175 13134 119 10 7 Secreted NA 0 PE1 -NX_O00178 72454 669 8.6 22 Nucleus;Cytoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_O00180 38143 336 5.94 1 Synapse;Cytoplasmic vesicle;Perikaryon;Cell membrane;Recycling endosome;Cytoplasmic vesicle;Dendrite;Cell projection;Apical cell membrane NA 4 PE1 -NX_O00182 39518 355 9.34 17 Cytoplasm;Nucleus;Secreted NA 0 PE1 -NX_O00186 67764 592 7.98 1 Nucleoplasm;Cytosol;Cytosol;Cell membrane NA 0 PE1 -NX_O00187 75702 686 5.39 1 Golgi apparatus;Secreted MASP2 deficiency 0 PE1 -NX_O00189 49977 453 6.71 7 trans-Golgi network membrane;Early endosome Spastic paraplegia 50, autosomal recessive 0 PE1 -NX_O00192 104642 962 6.38 22 Nucleus speckle;Cell membrane;Cell junction NA 0 PE1 -NX_O00193 20333 183 4.57 11 Nucleoplasm;Endoplasmic reticulum NA 0 PE1 -NX_O00194 24608 218 5.35 18 Cytosol;Membrane;Golgi apparatus;Cell membrane NA 0 PE1 -NX_O00198 9884 91 11.75 12 Mitochondrion;Membrane NA 1 PE1 -NX_O00203 121320 1094 5.75 5 Golgi apparatus;Clathrin-coated vesicle membrane;Nucleoplasm;Golgi apparatus Hermansky-Pudlak syndrome 2 0 PE1 -NX_O00204 41308 365 5.24 19 Cytosol;Nucleus;Cytosol;Cytoplasmic vesicle;Cytoplasm;Microsome Ichthyosis, congenital, autosomal recessive 14 0 PE1 -NX_O00206 95680 839 5.88 9 Cell membrane;Golgi apparatus;Cytosol NA 1 PE1 -NX_O00212 23413 210 8.15 11 Cell membrane;Early endosome NA 0 PE1 -NX_O00213 77244 710 4.98 11 Nucleus;Growth cone;Nucleus speckle;Cell membrane;Cytoplasm;Cell membrane NA 0 PE1 -NX_O00214 35808 317 8.33 1 Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_O00217 23705 210 6 11 Mitochondrion;Mitochondrion Leigh syndrome 0 PE1 -NX_O00219 62998 553 8.77 16 Cytoskeleton;Membrane NA 7 PE1 -NX_O00220 50089 468 6.64 8 Nucleoplasm;Membrane NA 1 PE1 -NX_O00221 52864 500 6.22 6 Cytoplasm;Nucleus;Cytosol;Nucleolus NA 0 PE1 -NX_O00222 101741 908 8.49 7 Cell membrane NA 7 PE2 -NX_O00230 11532 105 8.84 1 Secreted NA 0 PE2 -NX_O00231 47464 422 6.08 17 Golgi apparatus;Nucleus;Nucleus;Cytosol NA 0 PE1 -NX_O00232 52904 456 7.53 17 Nucleus;Cytoplasm;Nucleus;Cytosol;Cytoskeleton Stankiewicz-Isidor syndrome 0 PE1 -NX_O00233 24682 223 6.46 12 Cell membrane;Cytosol NA 0 PE1 -NX_O00237 79405 685 5.45 2 Endoplasmic reticulum membrane NA 4 PE1 -NX_O00238 56930 502 7.78 4 Cell membrane;Membrane Brachydactyly A1, D;Brachydactyly A2;Acromesomelic dysplasia, Demirhan type 1 PE1 -NX_O00241 43211 398 6.06 20 Membrane;Cytoplasmic vesicle NA 1 PE1 -NX_O00244 7402 68 6.71 5 Cytoplasm;Cell membrane;Nucleoplasm;Nucleus NA 0 PE1 -NX_O00253 14440 132 7.44 16 Secreted;Golgi apparatus lumen Obesity 0 PE1 -NX_O00254 42508 374 8.56 5 Endoplasmic reticulum;Cell membrane NA 7 PE1 -NX_O00255 68023 615 6.14 11 Nucleus;Nucleoplasm;Cytosol Familial multiple endocrine neoplasia type I 0 PE1 -NX_O00257 61368 560 9.41 17 Nucleoplasm;Nucleus;Nucleus;Nucleus speckle NA 0 PE1 -NX_O00258 19780 174 9.71 21 Endoplasmic reticulum membrane NA 3 PE1 -NX_O00264 21671 195 4.56 X Endoplasmic reticulum;Microsome membrane;Smooth endoplasmic reticulum membrane;Nucleolus;Endoplasmic reticulum NA 1 PE1 -NX_O00267 121000 1087 4.95 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_O00268 110114 1085 9.95 20 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_O00270 35075 319 9.37 6 Cell membrane NA 7 PE2 -NX_O00273 36522 331 4.68 1 Cytoplasm;Cell membrane;Cytosol NA 0 PE1 -NX_O00287 28232 272 5.41 13 Nucleus speckle;Nucleus Bare lymphocyte syndrome 2 0 PE1 -NX_O00291 116221 1037 5.2 7 Cytoplasm;Cytoplasmic vesicle;Clathrin-coated vesicle membrane;Endomembrane system;Nucleus NA 0 PE1 -NX_O00292 40920 366 8.91 1 Secreted Left-right axis malformations 0 PE1 -NX_O00294 60609 542 9.49 6 Cytoplasm;Cell membrane;Secreted;Synapse Retinitis pigmentosa 14;Leber congenital amaurosis 15 0 PE1 -NX_O00295 58664 520 8.31 19 Secreted;Cytoplasm NA 0 PE2 -NX_O00299 26923 241 5.09 6 Cytoplasm;Nucleus;Cytoplasm;Cytosol;Nucleus;Nucleus membrane;Cell membrane NA 1 PE1 -NX_O00300 46026 401 8.66 8 Secreted Paget disease of bone 5, juvenile-onset 0 PE1 -NX_O00303 37564 357 5.24 11 Cytoplasm;Cytosol;Nucleolus NA 0 PE1 -NX_O00305 58169 520 9.37 2 NA Epilepsy, idiopathic generalized 9;Juvenile myoclonic epilepsy 6;Episodic ataxia 5 0 PE1 -NX_O00308 98912 870 6.67 16 Nucleus NA 0 PE1 -NX_O00311 63888 574 8.96 1 Spindle;Cytoskeleton;Nucleoplasm;Nucleus NA 0 PE1 -NX_O00321 36633 342 5.88 19 Nucleus NA 0 PE2 -NX_O00322 28879 258 5.16 19 Membrane NA 4 PE1 -NX_O00327 68762 626 6.4 11 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;PML body;Nucleus NA 0 PE1 -NX_O00329 119479 1044 6.79 1 Cytoplasmic vesicle;Cytoskeleton;Cytoplasm Activated PI3K-delta syndrome 0 PE1 -NX_O00330 54122 501 8.8 11 Nucleus;Mitochondrion matrix;Cell membrane;Mitochondrion Pyruvate dehydrogenase E3-binding protein deficiency 0 PE1 -NX_O00337 71584 649 7.77 15 Cell membrane NA 13 PE1 -NX_O00338 34880 296 7.12 2 Cytoplasm NA 0 PE1 -NX_O00339 106837 956 5.86 8 Secreted NA 0 PE1 -NX_O00341 60658 560 6.33 1 Membrane NA 10 PE2 -NX_O00358 38076 373 9.62 9 Nucleus Bamforth-Lazarus syndrome;Thyroid cancer, non-medullary, 4 0 PE1 -NX_O00370 149012 1275 9.68 unknown NA NA 0 PE1 -NX_O00391 82578 747 9.13 1 Cytoplasmic vesicle;Extracellular space;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_O00398 38774 339 9.26 X Cell membrane NA 7 PE1 -NX_O00399 20747 190 5.94 8 Cytosol;Cell membrane;Nucleolus;Cytoskeleton;Kinetochore NA 0 PE1 -NX_O00400 60909 549 6.98 3 Endoplasmic reticulum membrane Congenital cataracts, hearing loss, and neurodegeneration;Spastic paraplegia 42, autosomal dominant 11 PE1 -NX_O00401 54827 505 8.05 7 Nucleus;Nucleolus;Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_O00408 105717 941 5.22 11 Mitochondrion matrix;Cytoplasm;Mitochondrion inner membrane;Mitochondrion outer membrane;Mitochondrion;Cell membrane;Cytosol NA 0 PE1 -NX_O00409 53835 490 6.19 14 Cytoskeleton;Nucleus;Nucleus;Cell membrane NA 0 PE1 -NX_O00410 123630 1097 4.83 13 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_O00411 138620 1230 9.19 19 Mitochondrion;Mitochondrion NA 0 PE1 -NX_O00418 82144 725 5.16 16 Nucleoplasm NA 0 PE1 -NX_O00421 39513 344 7.92 3 Cell membrane NA 7 PE1 -NX_O00422 17561 153 9.38 13 Nucleus;Cytosol;Nucleus speckle;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_O00423 89861 815 6.61 14 Cytoskeleton;Perinuclear region;Cytoplasm Band heterotopia 0 PE1 -NX_O00425 63705 579 8.99 7 Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_O00429 81877 736 6.37 12 Synaptic vesicle membrane;Cytoplasmic vesicle;Cytosol;Peroxisome;Clathrin-coated pit;Endomembrane system;Mitochondrion outer membrane;Cytosol;Golgi apparatus Encephalopathy due to defective mitochondrial and peroxisomal fission 1 0 PE1 -NX_O00442 39337 366 8.01 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_O00443 190680 1686 8.25 11 Cell membrane;Golgi apparatus;Clathrin-coated vesicle;Cytoplasm;Nucleus;Nucleus NA 0 PE1 -NX_O00444 108972 970 8.79 4 Centrosome;Centriole;Nucleolus;Cleavage furrow;Cytosol Microcephaly and chorioretinopathy, autosomal recessive, 2 0 PE1 -NX_O00445 42900 386 9.27 19 Synaptic vesicle membrane;Recycling endosome membrane NA 1 PE1 -NX_O00451 51544 464 8 8 Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_O00453 10792 97 8.43 6 Membrane;Golgi apparatus membrane;Endomembrane system NA 1 PE1 -NX_O00458 50269 451 6.8 7 Cytosol;Cell membrane NA 0 PE1 -NX_O00459 81545 728 6.03 19 Golgi apparatus Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 PE1 -NX_O00461 81880 696 4.73 3 Golgi apparatus;Golgi stack membrane;Endosome membrane;Membrane NA 1 PE1 -NX_O00462 100895 879 5.33 4 Cytoplasmic vesicle;Lysosome Mannosidosis, beta A, lysosomal 0 PE1 -NX_O00463 64406 557 7.26 1 Cytosol;Cytoplasm;Cytosol NA 0 PE1 -NX_O00468 217232 2067 6.01 1 Cytosol;Extracellular matrix;Cell membrane;Synapse;Cell membrane Myasthenic syndrome, congenital, 8 0 PE1 -NX_O00469 84686 737 6.24 3 Rough endoplasmic reticulum membrane;Nucleolus;Cytosol Bruck syndrome 2 0 PE1 -NX_O00470 43016 390 5.86 2 Nucleoplasm;Nucleus Restless legs syndrome 7 0 PE1 -NX_O00471 81853 708 6.27 14 Midbody;Cytoplasm NA 0 PE1 -NX_O00472 72324 640 9.09 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_O00476 46106 420 8.69 6 Endoplasmic reticulum membrane;Cell membrane NA 8 PE1 -NX_O00478 65002 584 5.37 6 Cell membrane NA 1 PE1 -NX_O00479 9539 90 10.48 6 Nucleus NA 0 PE1 -NX_O00481 57677 513 8.23 6 Cell membrane;Cytoplasmic vesicle NA 1 PE1 -NX_O00482 61331 541 8.08 1 Nucleus speckle;Nucleus NA 0 PE1 -NX_O00483 9370 81 9.42 7 Mitochondrion inner membrane Leigh syndrome 0 PE1 -NX_O00487 34577 310 6.06 2 Nucleoplasm NA 0 PE1 -NX_O00488 15199 134 9.85 1 Nucleus;Nucleolus;Nucleolus NA 0 PE1 -NX_O00499 64699 593 4.97 2 Nucleus;Cytoplasm;Nucleus;Cytoplasm;Cytosol Myopathy, centronuclear, 2 0 PE1 -NX_O00501 23147 218 8.25 22 Cell membrane;Tight junction NA 4 PE1 -NX_O00505 57811 521 4.8 13 Nucleoplasm;Nucleus;Cytoplasm;Cytosol NA 0 PE1 -NX_O00506 48112 426 6.27 2 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_O00507 291077 2555 5.56 Y Cytoplasmic vesicle;Cytoplasm Spermatogenic failure Y-linked 2 0 PE1 -NX_O00512 149290 1426 8.99 1 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_O00515 57131 517 9.67 1 Cytoskeleton;Basement membrane NA 0 PE1 -NX_O00519 63066 579 7.82 1 Cytosol;Endomembrane system;Cytoskeleton NA 1 PE1 -NX_O00522 84348 736 8.63 7 Cytoskeleton;Cell junction;Cytoplasmic vesicle;Cell membrane Cerebral cavernous malformations 1 0 PE1 -NX_O00526 19438 184 10.41 11 Endoplasmic reticulum;Cell membrane NA 1 PE1 -NX_O00533 135071 1208 5.51 3 Extracellular matrix;Cell membrane NA 1 PE1 -NX_O00534 86489 786 6.13 11 Nucleus NA 0 PE1 -NX_O00541 68003 588 6.93 22 Nucleus;Chromosome;Nucleoplasm;Nucleolus;Nucleolus NA 0 PE1 -NX_O00548 78056 723 5.85 6 Apical cell membrane;Adherens junction;Membrane raft NA 1 PE1 -NX_O00555 282365 2505 9 19 Cytoplasmic vesicle;Golgi apparatus;Nucleoplasm;Cell membrane Epileptic encephalopathy, early infantile, 42;Episodic ataxia 2;Spinocerebellar ataxia 6;Migraine, familial hemiplegic, 1 24 PE1 -NX_O00559 24377 213 6.04 8 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_O00560 32444 298 7.06 8 Cytosol;Cytosol;Focal adhesion;Melanosome;Membrane raft;Exosome;Cytoskeleton;Nucleus membrane;Adherens junction;Cell membrane;Endoplasmic reticulum membrane;Nucleus;Nucleoplasm NA 0 PE1 -NX_O00562 134848 1244 5.64 11 Cytosol;Cytosol;Midbody;Cytoplasm;Golgi stack membrane;Endoplasmic reticulum membrane;Lipid droplet;Cleavage furrow NA 0 PE1 -NX_O00566 78864 681 4.77 2 Nucleolus;Nucleolus;Chromosome NA 0 PE1 -NX_O00567 66050 594 9.24 20 Cytoplasm;Nucleoplasm;Nucleolus;Nucleolus Spinocerebellar ataxia 36 0 PE1 -NX_O00570 39023 391 9.7 13 Nucleus NA 0 PE1 -NX_O00571 73243 662 6.73 X Mitochondrion outer membrane;Nucleus speckle;Cytoplasm Mental retardation, X-linked 102 0 PE1 -NX_O00574 39280 342 8.28 3 Cell membrane NA 7 PE2 -NX_O00584 29481 256 6.66 6 Secreted;Lysosome lumen;Endoplasmic reticulum lumen Leukoencephalopathy, cystic, without megalencephaly 0 PE1 -NX_O00585 14646 134 10.13 9 Secreted NA 0 PE1 -NX_O00587 36202 321 9.01 22 Golgi apparatus membrane;Cytoskeleton NA 1 PE1 -NX_O00590 43443 384 7.61 3 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Cell membrane;Early endosome;Recycling endosome NA 7 PE1 -NX_O00591 50640 440 6.55 5 Postsynaptic cell membrane;Cell membrane NA 4 PE2 -NX_O00592 58635 558 5.28 7 Cell membrane;Membrane raft;Microtubule organizing center;Cytoplasmic vesicle;Filopodium;Ruffle;Microvillus;Apical cell membrane;Membrane;Lamellipodium NA 1 PE1 -NX_O00602 35078 326 6.39 9 Secreted;Cell membrane NA 0 PE1 -NX_O00622 42027 381 8.64 1 Secreted NA 0 PE1 -NX_O00623 40797 359 9.21 17 Peroxisome membrane Peroxisome biogenesis disorder 3A;Peroxisome biogenesis disorder complementation group 3;Peroxisome biogenesis disorder 3B 2 PE1 -NX_O00624 47277 439 8.85 6 Membrane NA 9 PE2 -NX_O00625 32113 290 6.42 X Cytoplasm;Cytosol;Nucleus NA 0 PE1 -NX_O00626 10625 93 8.8 16 Secreted NA 0 PE1 -NX_O00628 35892 323 5.41 6 Peroxisome;Cytoplasm Rhizomelic chondrodysplasia punctata 1;Peroxisome biogenesis disorder 9B;Peroxisome biogenesis disorder complementation group 11 0 PE1 -NX_O00629 57887 521 4.8 3 Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_O00631 3762 31 8.34 11 Cytoskeleton;Sarcoplasmic reticulum membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_O00634 61466 580 9.2 16 Extracellular matrix NA 0 PE1 -NX_O00635 53416 465 6.61 6 Cell membrane;Cell junction;Centrosome NA 0 PE1 -NX_O00712 47442 420 9.01 9 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_O00716 49162 465 5.29 6 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_O00743 35144 305 5.43 9 Cytoplasm NA 0 PE1 -NX_O00744 43000 389 9.37 12 Golgi apparatus;Extracellular matrix Tooth agenesis, selective, 8;Split-hand/foot malformation 6 0 PE1 -NX_O00746 20659 187 10.3 16 Mitochondrion intermembrane space;Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_O00748 61807 559 5.71 16 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum lumen;Golgi apparatus NA 0 PE1 -NX_O00750 184768 1634 6.95 1 Nucleoplasm;Cytosol;Cytosol;Nucleus;Endoplasmic reticulum;Microsome;Cell membrane NA 0 PE1 -NX_O00754 113744 1011 6.84 19 Cytoplasmic vesicle;Nucleoplasm;Lysosome Mannosidosis, alpha B, lysosomal 0 PE1 -NX_O00755 39005 349 9.05 3 Extracellular matrix Fuhrmann syndrome;Limb pelvis hypoplasia aplasia syndrome 0 PE1 -NX_O00757 36743 339 6.84 9 Nucleoplasm;Cell junction;Z line;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_O00762 19652 179 6.83 20 Cell membrane;Cytosol NA 0 PE1 -NX_O00763 276541 2458 6.05 12 Endomembrane system;Mitochondrion;Nucleus NA 0 PE1 -NX_O00764 35102 312 5.75 21 Nucleus;Cytoplasm NA 0 PE1 -NX_O00767 41523 359 9.07 10 Endoplasmic reticulum;Endoplasmic reticulum membrane NA 4 PE1 -NX_O14490 108873 977 6.66 18 Postsynaptic density;Cell membrane;Synapse NA 0 PE1 -NX_O14492 67738 632 5.85 7 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_O14493 22077 209 8.38 7 Tight junction;Cell membrane;Cell membrane NA 4 PE1 -NX_O14494 32156 284 8.1 5 Cell membrane;Cell membrane;Cell membrane NA 6 PE1 -NX_O14495 35116 311 9.31 1 Golgi apparatus;trans-Golgi network membrane;Cell membrane NA 6 PE1 -NX_O14497 242045 2285 6.24 1 Nucleoplasm;Nucleus Coffin-Siris syndrome 2 0 PE1 -NX_O14498 45997 428 5 15 Secreted;Cell membrane;Golgi apparatus NA 0 PE1 -NX_O14503 45510 412 8.3 3 Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_O14508 22172 198 8.9 12 Endoplasmic reticulum NA 0 PE1 -NX_O14511 91679 850 9.51 5 Cell membrane;Nucleolus;Secreted;Nucleus NA 1 PE1 -NX_O14512 62969 581 8.35 17 Cytoplasm;Cytosol;Cell membrane;Nucleus NA 0 PE1 -NX_O14513 208537 1909 8.34 2 Cytosol;Nucleolus;Golgi apparatus;Cell membrane NA 0 PE1 -NX_O14514 173501 1584 8.27 8 Cell membrane;Phagocytic cup;Focal adhesion;Dendritic spine;Postsynaptic density;Secreted;Secreted NA 7 PE1 -NX_O14519 12365 115 9.41 12 Nucleoplasm NA 0 PE1 -NX_O14520 37232 342 9.04 9 Membrane NA 6 PE1 -NX_O14521 17043 159 8.92 11 Mitochondrion inner membrane Intestinal carcinoid tumor;Pheochromocytoma;Cowden syndrome 3;Paraganglioma and gastric stromal sarcoma;Paragangliomas 1;Mitochondrial complex II deficiency 3 PE1 -NX_O14522 162134 1441 6.44 20 Membrane NA 1 PE1 -NX_O14523 76181 706 7.61 11 Endoplasmic reticulum membrane;Cell membrane;Nucleus membrane;Nucleolus;Nucleus;Cytosol NA 1 PE1 -NX_O14524 50640 444 6.56 12 Nucleus inner membrane;Nucleus envelope;Nucleoplasm NA 5 PE1 -NX_O14525 144913 1302 5.09 1 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Perikaryon;Endosome;Clathrin-coated vesicle NA 2 PE1 -NX_O14526 96861 889 6.51 19 Cytosol;Nucleoplasm;Clathrin-coated pit NA 0 PE1 -NX_O14529 161677 1486 5.38 12 Nucleus NA 0 PE1 -NX_O14530 26534 226 5.61 2 Nucleus;Cytosol;Midbody;Cytoplasm;Centrosome NA 0 PE1 -NX_O14531 61878 572 6.64 10 Mitochondrion;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_O14543 24770 225 8.97 17 Cytosol NA 0 PE1 -NX_O14544 59528 535 6.79 18 Cytosol;Nucleus speckle NA 0 PE1 -NX_O14545 64841 582 5.19 12 Cytosol;Nucleoplasm NA 0 PE1 -NX_O14548 12615 114 9.43 2 Nucleolus;Mitochondrion inner membrane;Mitochondrion NA 0 PE1 -NX_O14556 44501 408 8.39 19 Nucleoplasm;Cytoplasm;Centrosome NA 0 PE1 -NX_O14558 17136 160 5.95 19 Nucleus;Secreted;Cytoplasm NA 0 PE1 -NX_O14559 137213 1287 9.05 19 Cell membrane;Cytoskeleton;Cytosol NA 0 PE1 -NX_O14561 17417 156 4.82 16 Nucleoplasm;Mitochondrion;Mitochondrion NA 0 PE1 -NX_O14562 33382 309 5.55 16 Nucleolus;Nucleus NA 0 PE1 -NX_O14569 23974 222 9.93 3 Membrane NA 6 PE1 -NX_O14576 72955 645 5 7 Cytoplasm;Spindle pole;Kinetochore NA 0 PE1 -NX_O14578 231431 2027 6.16 12 Cytosol;Cytoplasm Microcephaly 17, primary, autosomal recessive 0 PE1 -NX_O14579 34482 308 4.98 19 Golgi apparatus;Cytoplasm;Golgi apparatus;Golgi apparatus membrane;COPI-coated vesicle membrane NA 0 PE1 -NX_O14581 34013 309 6.48 19 Cell membrane NA 7 PE2 -NX_O14593 28102 260 4.45 19 Nucleoplasm;Cytoplasm;Nucleus Bare lymphocyte syndrome 2 0 PE1 -NX_O14594 143093 1321 5.22 19 Cytoplasmic vesicle;Centrosome;Secreted NA 0 PE1 -NX_O14595 30664 271 5.34 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_O14598 12917 125 9.43 Y NA NA 0 PE1 -NX_O14599 12063 106 10.19 Y NA NA 0 PE1 -NX_O14602 16442 144 5.07 Y NA NA 0 PE1 -NX_O14603 16512 147 8.27 Y NA NA 0 PE1 -NX_O14604 5013 44 5.34 Y Cytoskeleton NA 0 PE1 -NX_O14607 149548 1347 7.91 Y Nucleus NA 0 PE1 -NX_O14609 18083 159 6.56 Y Membrane NA 3 PE2 -NX_O14610 7747 69 6.27 17 Cell membrane NA 0 PE1 -NX_O14613 22484 210 4.94 11 Cytosol;Cytoskeleton;Cytoskeleton;Endomembrane system NA 0 PE1 -NX_O14617 130158 1153 8.69 19 Cytoplasm;Cytosol;Golgi apparatus membrane Hermansky-Pudlak syndrome 10 0 PE1 -NX_O14618 29041 274 5.32 11 Cytoplasm NA 0 PE1 -NX_O14625 10365 94 9.94 4 Secreted NA 0 PE1 -NX_O14626 36754 319 9.1 3 Cell membrane NA 7 PE1 -NX_O14627 30480 284 9.03 X Nucleus NA 0 PE1 -NX_O14628 72332 629 8.45 11 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_O14633 11219 110 8.54 1 NA NA 0 PE1 -NX_O14638 100124 875 6.12 6 Secreted;Membrane NA 1 PE1 -NX_O14639 87688 778 8.91 10 Cytoplasm;Cytoskeleton;Cytosol NA 0 PE1 -NX_O14640 75187 695 7.69 1 Cytoplasmic vesicle;Cell membrane;Cytosol Robinow syndrome, autosomal dominant 2 0 PE1 -NX_O14641 78948 736 5.67 17 Nucleoplasm;Cell membrane;Cytosol;Nucleus;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_O14645 29662 258 8.73 1 NA NA 0 PE1 -NX_O14646 196688 1710 6.68 5 Nucleus;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 -NX_O14647 211344 1828 8.22 15 Nucleus;Nucleus Epileptic encephalopathy, childhood-onset 0 PE1 -NX_O14649 43518 394 9.26 2 Cell membrane Pulmonary hypertension, primary, 4 4 PE1 -NX_O14653 24775 212 7.86 17 Nucleoplasm;Golgi apparatus;Endoplasmic reticulum membrane;cis-Golgi network membrane;Golgi apparatus membrane Epilepsy, progressive myoclonic 6 1 PE1 -NX_O14654 133768 1257 8.72 X Cell membrane NA 0 PE1 -NX_O14656 37809 332 6.51 9 Nucleus membrane;Growth cone;Cytoplasmic vesicle membrane;Secretory vesicle;Synaptic vesicle;Nucleus membrane;Cytoskeleton;Cytoplasmic vesicle;Endoplasmic reticulum lumen Dystonia 1, torsion, autosomal dominant 0 PE1 -NX_O14657 37979 336 8.76 9 Nucleus membrane;Endoplasmic reticulum lumen;Nucleus speckle;Cytosol NA 0 PE1 -NX_O14662 37031 325 5.75 20 Cytoplasmic vesicle;Golgi apparatus membrane;Cytoplasm Pseudohypoparathyroidism 1B 1 PE1 -NX_O14668 24947 218 5.13 X Cell membrane;Membrane;Cytoplasmic vesicle NA 1 PE1 -NX_O14669 22393 202 5.22 19 Nucleus;Nucleolus;Cytosol;Membrane NA 1 PE1 -NX_O14672 84142 748 8.04 15 Cell membrane;Golgi apparatus membrane;Cell membrane;Cytoplasmic vesicle Reticulate acropigmentation of Kitamura;Alzheimer disease 18 1 PE1 -NX_O14678 68597 606 6.12 14 Peroxisome membrane Methylmalonic aciduria and homocystinuria type cblJ 5 PE1 -NX_O14681 38965 340 9.75 11 Golgi apparatus;Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus membrane;Cytoplasm NA 5 PE1 -NX_O14682 66130 589 6.4 5 Cell membrane;Nucleus matrix;Cytoplasm;Cytoskeleton;Cytosol NA 0 PE1 -NX_O14683 21054 189 9.57 11 Golgi apparatus;Endoplasmic reticulum;Membrane NA 4 PE1 -NX_O14684 17102 152 9.59 9 Endoplasmic reticulum;Membrane NA 4 PE1 -NX_O14686 593389 5537 5.4 12 Nucleus;Cytosol;Nucleus;Cell membrane Kabuki syndrome 1 0 PE1 -NX_O14709 118847 1029 8.91 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_O14713 21782 200 5.95 2 Ruffle;Nucleus;Cytosol;Nucleoplasm;Cytoplasm;Cytoskeleton;Cell membrane;Lamellipodium NA 0 PE1 -NX_O14715 198993 1765 6.09 2 NA NA 0 PE1 -NX_O14717 44597 391 5.78 10 Nucleus;Nucleolus;Centrosome;Nucleus NA 0 PE1 -NX_O14718 37423 337 8.78 4 Membrane NA 7 PE1 -NX_O14727 141840 1248 5.96 12 Cytosol;Cytoplasm;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_O14730 59093 519 5.52 18 Golgi apparatus;Cytoplasm;Cell membrane;Microtubule organizing center;Cytosol NA 0 PE1 -NX_O14732 31321 288 6.15 18 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_O14733 47485 419 9.26 19 Cytoplasm;Cytosol;Nucleus;Golgi apparatus;Cell membrane NA 0 PE1 -NX_O14734 35914 319 7.22 20 Peroxisome matrix;Cytoplasm;Mitochondrion;Cytoplasmic vesicle NA 0 PE1 -NX_O14735 23539 213 8.23 16 Nucleus membrane;Cell membrane;Golgi apparatus membrane;Cell membrane;Endoplasmic reticulum membrane;Membrane;Nucleoplasm NA 5 PE1 -NX_O14737 14285 125 5.77 19 Cytosol;Nucleus NA 0 PE1 -NX_O14744 72684 637 5.88 14 Cytosol;Cytoplasm;Nucleus;Nucleus;Golgi apparatus NA 0 PE1 -NX_O14745 38868 358 5.55 17 Cell membrane;Cytoplasm;Cytoplasm;Apical cell membrane;Microtubule organizing center;Cytoplasmic vesicle;Microvillus;Cell membrane;Endomembrane system;Filopodium;Ruffle Nephrolithiasis/osteoporosis, hypophosphatemic, 2 0 PE1 -NX_O14746 126997 1132 10.54 5 Telomere;PML body;Nucleoplasm;Nucleus;Nucleolus;Nucleoplasm;Cytoplasm Aplastic anemia;Dyskeratosis congenita, autosomal recessive, 4;Melanoma, cutaneous malignant 9;Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1;Dyskeratosis congenita, autosomal dominant, 2;Pulmonary fibrosis, idiopathic 0 PE1 -NX_O14753 30259 267 9.02 11 Nucleus;Nucleus NA 0 PE1 -NX_O14756 35966 317 8.94 12 Microsome membrane;Early endosome membrane;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_O14757 54434 476 8.5 11 Nucleus;Cytoplasmic vesicle;Cytoplasm;Centrosome;Nucleoplasm NA 0 PE1 -NX_O14763 47878 440 5.39 8 Membrane Squamous cell carcinoma of the head and neck 1 PE1 -NX_O14764 50708 452 8.7 1 Golgi apparatus;Cytoplasmic vesicle;Postsynaptic cell membrane;Cell membrane Epilepsy, idiopathic generalized 10;Juvenile myoclonic epilepsy 7;Generalized epilepsy with febrile seizures plus 5 4 PE1 -NX_O14770 51790 477 5.92 15 Nucleus;Cytosol;Nucleoplasm;Perinuclear region Cleft palate, cardiac defects, and mental retardation 0 PE1 -NX_O14771 51263 459 6.48 16 Nucleus;Nucleus;Cytoplasmic vesicle;Nucleus membrane;Cytosol NA 0 PE1 -NX_O14772 66599 594 6.06 1 Cytoplasm NA 0 PE1 -NX_O14773 61248 563 6.01 11 Cytoplasm;Lysosome;Melanosome Ceroid lipofuscinosis, neuronal, 2;Spinocerebellar ataxia, autosomal recessive, 7 0 PE1 -NX_O14775 43566 395 6.02 15 Nucleus;Cytoplasm;Membrane;Nucleus speckle;Centrosome;Cytoplasm Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia;Intellectual developmental disorder with cardiac arrhythmia 0 PE1 -NX_O14776 123901 1098 8.71 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_O14777 73913 642 5.48 18 Nucleus;Centrosome;Nucleoplasm;Kinetochore NA 0 PE1 -NX_O14782 89426 793 8.28 2 Nucleus;Nucleus membrane;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_O14786 103134 923 5.58 10 Endoplasmic reticulum;Mitochondrion;Secreted;Cell membrane NA 1 PE1 -NX_O14787 101388 897 4.87 19 Cytoplasm;Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_O14788 35478 317 7.25 13 Cell membrane;Secreted;Cytoplasm Osteopetrosis, autosomal recessive 2 1 PE1 -NX_O14791 43974 398 5.6 22 Secreted Focal segmental glomerulosclerosis 4 0 PE1 -NX_O14792 35773 307 8.91 4 Cytoplasmic vesicle;Golgi apparatus lumen NA 0 PE1 -NX_O14793 42750 375 6.35 2 Secreted Muscle hypertrophy 0 PE1 -NX_O14795 180679 1591 5.67 9 Cytoskeleton;Nucleoplasm;Cytoplasm;Cytosol;Membrane;Cell membrane;Synapse NA 0 PE1 -NX_O14796 15297 132 8.97 1 NA NA 0 PE1 -NX_O14798 27407 259 4.79 8 Cell membrane NA 0 PE1 -NX_O14802 155641 1390 8.76 10 Nucleus;Nucleoplasm Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 0 PE1 -NX_O14804 38242 337 8.49 6 Cell membrane NA 7 PE2 -NX_O14807 23846 208 8.82 3 Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_O14810 15030 134 4.93 4 Cytosol NA 0 PE1 -NX_O14813 29653 284 8.98 11 Nucleus;Nucleus membrane;Cytoplasmic vesicle;Nucleus Fibrosis of extraocular muscles, congenital, 2 0 PE1 -NX_O14815 79097 690 5.37 1 NA NA 0 PE1 -NX_O14817 26118 238 6.07 11 Membrane NA 4 PE1 -NX_O14818 27887 248 8.6 20 Cytoplasm;Nucleus NA 0 PE1 -NX_O14827 140764 1237 7.37 5 Endoplasmic reticulum;Cell membrane;Endoplasmic reticulum membrane;Cytoplasm NA 0 PE1 -NX_O14828 38287 347 7.55 1 Membrane;Cytoplasmic vesicle NA 4 PE1 -NX_O14829 75792 653 6.37 X Cytoskeleton;Cell membrane NA 0 PE1 -NX_O14830 86518 753 6.7 4 Photoreceptor outer segment;Photoreceptor inner segment;Cytoplasm NA 0 PE1 -NX_O14832 38538 338 8.71 10 Peroxisome Refsum disease 0 PE1 -NX_O14836 31816 293 8.35 17 Membrane Immunodeficiency, common variable, 2;Immunoglobulin A deficiency 2 1 PE1 -NX_O14841 137457 1288 6.12 8 Nucleolus 5-oxoprolinase deficiency 0 PE1 -NX_O14842 31457 300 9.63 19 Cell membrane NA 7 PE1 -NX_O14843 38649 346 8 19 Cell membrane NA 7 PE1 -NX_O14862 38954 343 9.79 1 Nucleoplasm;Cytosol;Mitochondrion;Nucleus;Cytoplasm NA 0 PE1 -NX_O14863 47483 429 6.11 15 Lysosome membrane;Endosome membrane;Late endosome membrane NA 6 PE1 -NX_O14867 81958 736 4.95 21 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_O14874 46360 412 8.97 16 Mitochondrion;Mitochondrion matrix;Mitochondrion Branched-chain ketoacid dehydrogenase kinase deficiency 0 PE1 -NX_O14879 55985 490 5.12 10 Cytoplasm;Cytosol;Mitochondrion;Mitochondrion NA 0 PE1 -NX_O14880 16516 152 9.46 1 Microsome membrane;Microsome membrane;Endoplasmic reticulum membrane NA 3 PE1 -NX_O14893 31585 280 5.43 14 Gem;Nucleus;Nucleus;Cytoplasm;Nucleolus NA 0 PE1 -NX_O14894 20823 197 8.56 17 Nucleoplasm;Cell junction;Membrane;Cell membrane NA 4 PE1 -NX_O14896 53130 467 5.18 1 Cytosol;Nucleus;Nucleus;Cytoplasm Van der Woude syndrome 1;Popliteal pterygium syndrome;Non-syndromic orofacial cleft 6 0 PE1 -NX_O14901 55139 512 8.45 2 Cytosol;Nucleoplasm;Nucleus;Focal adhesion Maturity-onset diabetes of the young 7 0 PE1 -NX_O14904 40320 365 9.08 1 Extracellular matrix NA 0 PE1 -NX_O14905 39001 357 9.2 17 Extracellular matrix NA 0 PE1 -NX_O14907 13735 124 8.05 17 Cytoplasm;Cytoskeleton;Cytoplasmic vesicle;Nucleolus;Nucleus;Cell membrane NA 0 PE1 -NX_O14908 36049 333 5.9 19 Cytoplasm;Cell junction;Membrane;Cell membrane;Nucleus NA 0 PE1 -NX_O14910 25997 233 8.83 12 Cell membrane;Basolateral cell membrane;Cell junction;Postsynaptic density;Tight junction;Synaptosome NA 0 PE1 -NX_O14917 126229 1159 5.03 13 Cell membrane;Cell membrane;Cytoplasmic vesicle;Cytosol NA 1 PE1 -NX_O14920 86564 756 5.58 8 Cytoplasm;Cytosol;Nucleus;Membrane raft Immunodeficiency 15 0 PE1 -NX_O14921 19135 159 9.07 1 NA NA 0 PE2 -NX_O14924 156357 1447 7.2 4 Nucleolus;Dendrite;Nucleus;Synapse;Nucleus matrix;Nucleus;Cytoplasm NA 0 PE1 -NX_O14925 21943 209 8.81 10 Mitochondrion;Mitochondrion;Mitochondrion inner membrane NA 3 PE1 -NX_O14926 55057 492 7.95 17 Cytoskeleton;Stereocilium Retinitis pigmentosa 30 0 PE1 -NX_O14929 49513 419 5.52 2 Nucleus;Cytoplasm;Nucleus matrix;Nucleus;Nucleoplasm;Nucleoplasm NA 0 PE1 -NX_O14931 21593 201 9.17 6 Cell membrane NA 1 PE1 -NX_O14933 17769 153 7.72 11 Cytosol NA 0 PE1 -NX_O14936 105123 926 5.99 X Cytosol;Nucleoplasm;Nucleus;Cytoplasm;Cell membrane Mental retardation and microcephaly with pontine and cerebellar hypoplasia;FG syndrome 4 0 PE1 -NX_O14939 105987 933 7.41 17 Membrane NA 0 PE1 -NX_O14944 19044 169 7.49 4 Cytoplasmic vesicle;Extracellular space;Cell membrane NA 1 PE1 -NX_O14948 38788 347 5.3 7 Nucleus;Nucleoplasm NA 0 PE1 -NX_O14949 9906 82 10.07 5 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex III deficiency, nuclear 4 0 PE1 -NX_O14950 19779 172 4.71 18 Cytoplasm NA 0 PE1 -NX_O14957 6570 56 9.87 19 Mitochondrion inner membrane NA 1 PE1 -NX_O14958 46436 399 4.22 1 Sarcoplasmic reticulum lumen Ventricular tachycardia, catecholaminergic polymorphic, 2 0 PE1 -NX_O14960 16390 151 9.49 5 Secreted;Cytoplasm NA 0 PE1 -NX_O14964 86192 777 5.84 17 Cytosol;Multivesicular body membrane;Endosome;Cytoplasm;Early endosome membrane;Lysosome NA 0 PE1 -NX_O14965 45809 403 9.45 20 Cytosol;Centriole;Cilium basal body;Spindle pole;Centrosome;Nucleus;Centrosome NA 0 PE1 -NX_O14966 23155 203 6.73 1 Cell membrane;Nucleus membrane;Cytoplasm;Perinuclear region;Golgi apparatus;trans-Golgi network;Vacuole;Cytoskeleton;Nucleolus NA 0 PE1 -NX_O14967 70039 610 4.58 4 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_O14972 33010 297 7.6 21 Mitochondrion NA 0 PE1 -NX_O14974 115281 1030 5.31 12 Cytoskeleton;Cytosol;Cytoplasm NA 0 PE1 -NX_O14975 70312 620 8.75 15 Peroxisome membrane;Endoplasmic reticulum membrane NA 3 PE1 -NX_O14976 143191 1311 5.49 4 Perinuclear region;Golgi apparatus;Cytoplasmic vesicle;trans-Golgi network;Focal adhesion NA 0 PE1 -NX_O14977 49535 448 4.66 8 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_O14978 77299 683 6.54 16 Nucleoplasm;Nucleus;Cytosol;Spindle NA 0 PE1 -NX_O14979 46438 420 9.59 4 Nucleoplasm;Cytoplasm;Nucleus Limb-girdle muscular dystrophy 1G 0 PE1 -NX_O14980 123386 1071 5.71 2 Nucleolus;Cytosol;Cytoplasm;Nucleoplasm;Nucleoplasm;Cytoplasmic vesicle;Nucleus membrane;Cajal body NA 0 PE1 -NX_O14981 206887 1849 6.08 10 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_O14983 110252 1001 5.07 16 Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane;Endoplasmic reticulum Brody myopathy 10 PE1 -NX_O14986 61036 540 6.39 9 Nucleus;Cytoplasmic vesicle;Endomembrane system NA 0 PE1 -NX_O14990 22660 202 5.04 X NA NA 0 PE1 -NX_O14994 63303 580 9.42 22 Synaptic vesicle membrane NA 0 PE1 -NX_O15013 151612 1369 5.46 8 Nucleoplasm Slowed nerve conduction velocity 0 PE1 -NX_O15014 151191 1411 8.24 15 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_O15015 200762 1829 6.97 16 Nucleus;Cytosol;Cell membrane;Nucleoplasm;Nucleus NA 0 PE1 -NX_O15016 134663 1216 6.53 11 Nucleoplasm;Nucleus NA 0 PE2 -NX_O15018 301641 2839 7.14 5 Secreted;Endoplasmic reticulum;Cell membrane;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_O15020 271325 2390 5.79 11 Cell junction;Cytosol;Cell cortex;Cytoskeleton Spinocerebellar ataxia, autosomal recessive, 14;Spinocerebellar ataxia 5 0 PE1 -NX_O15021 284378 2626 8.85 5 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_O15027 233517 2179 5.4 9 Endoplasmic reticulum;Golgi apparatus membrane;Endoplasmic reticulum membrane;Golgi apparatus NA 0 PE1 -NX_O15031 205127 1838 5.85 22 Cell membrane NA 1 PE1 -NX_O15033 94223 823 6.85 14 Cytosol NA 0 PE1 -NX_O15034 116026 1052 5.16 12 Cell membrane;Synapse;Nucleus;Golgi apparatus NA 0 PE1 -NX_O15037 74534 678 6.57 14 Nucleoplasm;Cytosol NA 0 PE1 -NX_O15040 153848 1411 5.34 14 Nucleus Spastic paraplegia 49, autosomal recessive 0 PE1 -NX_O15041 89228 775 7.2 7 Nucleoplasm;Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_O15042 118292 1029 8.59 3 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_O15047 186034 1707 5.07 16 Nucleus speckle;Chromosome;Nucleus speckle NA 0 PE1 -NX_O15049 60470 544 8.33 5 Nucleoplasm;Cytoplasmic vesicle;Axon;Dendrite;Centrosome NA 0 PE1 -NX_O15050 336221 2925 6.34 3 Nucleoplasm NA 0 PE1 -NX_O15054 176632 1643 8.83 17 Nucleus;Nucleus speckle NA 0 PE1 -NX_O15055 136579 1255 6.04 2 Cytoplasm;Perinuclear region;Nucleolus;Nucleus Advanced sleep phase syndrome, familial, 1 0 PE1 -NX_O15056 165538 1496 6.96 6 Cytosol;Cytoskeleton;Cytoskeleton;Cytoplasm;Cell membrane;Membrane raft;Axon NA 0 PE1 -NX_O15060 79001 712 6.06 12 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_O15061 172768 1565 5.09 15 Cytoskeleton;Cytoskeleton;Adherens junction NA 0 PE1 -NX_O15062 74278 677 5.79 9 Nucleoplasm;Golgi apparatus;Nucleus;Nucleus NA 0 PE1 -NX_O15063 116020 1070 6.72 19 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_O15066 85125 747 7.3 20 Nucleolus;Golgi apparatus;Nucleoplasm;Cytoskeleton;Cilium NA 0 PE1 -NX_O15067 144734 1338 5.5 17 Cytoplasm;Cell membrane;Nucleoplasm NA 0 PE1 -NX_O15068 128109 1137 6.02 13 Cytoplasm;Cell membrane;Endomembrane system NA 0 PE1 -NX_O15069 161101 1562 4.12 7 Cytosol;Cytoplasm;Nucleus;Nucleus NA 0 PE1 -NX_O15072 135603 1205 6.76 4 Cytoskeleton;Extracellular matrix NA 0 PE1 -NX_O15075 82224 740 8.84 13 Nucleus;Cytosol NA 0 PE1 -NX_O15078 290386 2479 5.75 12 Cytoplasmic vesicle;Centriole;Cilium;Nucleus;Centrosome;Centriolar satellite;Centrosome;Cilium basal body Joubert syndrome 5;Leber congenital amaurosis 10;Meckel syndrome 4;Senior-Loken syndrome 6;Bardet-Biedl syndrome 14 0 PE1 -NX_O15079 53537 494 5.41 20 Cytoskeleton;Mitochondrion;Membrane;Synaptosome NA 1 PE1 -NX_O15083 110558 957 6.51 3 Cytoskeleton;Cytoplasm;Synapse;Synaptosome NA 0 PE1 -NX_O15084 112966 1053 5.8 3 Nucleoplasm NA 0 PE1 -NX_O15085 167704 1522 5.33 1 Golgi apparatus;Cytoplasm;Membrane;Cell membrane NA 0 PE1 -NX_O15090 141417 1300 6.86 19 Nucleus NA 0 PE1 -NX_O15091 67315 583 8.97 14 Mitochondrion;Nucleus;Mitochondrion NA 0 PE1 -NX_O15105 46426 426 8.63 18 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Colorectal cancer 3 0 PE1 -NX_O15111 84640 745 6.27 10 Cytosol;Nucleoplasm;Nucleus;Cytoplasm;Cytoplasmic vesicle Cocoon syndrome 0 PE1 -NX_O15116 15179 133 5.11 8 Cytosol;Cytoplasmic vesicle;Cytoplasm;P-body NA 0 PE1 -NX_O15117 85387 783 6.11 5 Cytoplasm;Nucleus;Cell junction;Cell membrane Thrombocytopenia 3 0 PE1 -NX_O15118 142167 1278 5.17 18 Late endosome membrane;Lysosome membrane Niemann-Pick disease C1 13 PE1 -NX_O15119 79389 743 8.3 12 Cytosol;Nucleoplasm;Nucleus Ulnar-mammary syndrome 0 PE1 -NX_O15120 30914 278 9.21 9 Endoplasmic reticulum membrane;Centrosome Congenital generalized lipodystrophy 1 3 PE1 -NX_O15121 37866 323 6.97 1 Mitochondrion;Mitochondrion;Endoplasmic reticulum membrane;Membrane NA 6 PE1 -NX_O15123 56919 496 5.41 8 Secreted NA 0 PE1 -NX_O15126 37920 338 7.03 5 Nucleoplasm;Cell junction;Cytoplasmic vesicle;Recycling endosome membrane;trans-Golgi network membrane NA 4 PE1 -NX_O15127 36649 329 5.72 15 Cell membrane;Golgi apparatus;Recycling endosome membrane;trans-Golgi network membrane;Cytoplasmic vesicle NA 4 PE1 -NX_O15130 12440 113 5.04 12 Secreted NA 0 PE2 -NX_O15131 60349 536 5.07 6 Cytoplasm;Cytosol NA 0 PE1 -NX_O15143 40950 372 8.68 7 Cytoplasmic vesicle;Cytoskeleton;Cytosol NA 0 PE1 -NX_O15144 34333 300 6.84 2 Cytoplasm;Cell projection;Cytoskeleton;Synaptosome;Golgi apparatus;Cytosol NA 0 PE1 -NX_O15145 20547 178 8.78 12 Cytoplasm;Nucleoplasm;Cytoskeleton;Cell projection NA 0 PE1 -NX_O15146 97056 869 6.96 9 Postsynaptic cell membrane Fetal akinesia deformation sequence;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 1 PE1 -NX_O15151 54864 490 4.85 1 Nucleus;Nucleus NA 0 PE1 -NX_O15155 13289 118 9.14 7 Endoplasmic reticulum membrane;cis-Golgi network membrane;Golgi apparatus membrane NA 1 PE1 -NX_O15156 58027 539 5.53 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_O15160 39250 346 5.31 6 Nucleus;Nucleus Treacher Collins syndrome 3;Leukodystrophy, hypomyelinating, 11 0 PE1 -NX_O15162 35049 318 4.83 3 Nucleus;Golgi apparatus;Nucleus;Membrane;Cell membrane;Cell membrane NA 1 PE1 -NX_O15164 116831 1050 6.73 7 Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_O15165 33900 306 5.86 18 Cytoplasmic vesicle;Nucleoplasm;Early endosome membrane NA 1 PE1 -NX_O15169 95635 862 6.5 16 Nucleolus;Cytoplasmic vesicle;Cell membrane;Membrane;Nucleus;Cytoplasm Caudal duplication anomaly;Hepatocellular carcinoma 0 PE1 -NX_O15172 7804 72 6.02 7 NA NA 0 PE5 -NX_O15173 23818 223 4.76 4 Nucleus;Membrane;Cell membrane;Cytosol NA 1 PE1 -NX_O15178 47443 435 6.62 6 Nucleus;Nucleus Neural tube defects;Sacral agenesis with vertebral anomalies;Chordoma 0 PE1 -NX_O15182 19550 167 4.62 5 Centriole;Nucleolus;Centrosome;Centrosome NA 0 PE1 -NX_O15194 31129 276 5.32 3 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_O15195 95907 856 6.55 3 NA NA 0 PE1 -NX_O15197 110700 1021 6.19 7 Nucleus speckle;Membrane;Secreted NA 1 PE1 -NX_O15198 52493 467 7.87 13 Cytoplasm;Cytosol;Nucleoplasm;Nucleus Pulmonary hypertension, primary, 2 0 PE1 -NX_O15204 52775 470 7.01 8 Secreted NA 0 PE1 -NX_O15205 18473 165 9.08 6 Nucleolus;Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_O15209 65602 634 5.93 6 Nucleus;Nucleoplasm NA 0 PE1 -NX_O15211 83549 777 5.82 6 NA NA 0 PE1 -NX_O15212 14583 129 8.83 6 Golgi apparatus;Nucleus NA 0 PE1 -NX_O15213 68071 610 9.69 6 Nucleolus NA 0 PE1 -NX_O15217 25704 222 7.89 6 Cytoplasm NA 0 PE1 -NX_O15218 45323 404 7.28 12 Cell membrane NA 7 PE2 -NX_O15225 5365 51 7 X NA NA 0 PE5 -NX_O15226 77673 690 8.94 X Nucleus;Nucleolus;Nucleolus NA 0 PE1 -NX_O15228 77188 680 6.16 1 Peroxisome membrane Rhizomelic chondrodysplasia punctata 2 0 PE1 -NX_O15229 55810 486 9.18 1 Mitochondrion outer membrane NA 2 PE1 -NX_O15230 399737 3695 6.66 20 Cytoplasmic vesicle;Basement membrane;Nucleoplasm NA 0 PE1 -NX_O15231 73525 689 6.68 X Cytoskeleton;Focal adhesion NA 0 PE1 -NX_O15232 52817 486 6.25 2 Golgi apparatus;Endoplasmic reticulum;Secreted Multiple epiphyseal dysplasia 5;Spondyloepimetaphyseal dysplasia MATN3-related;Osteoarthritis 2 0 PE1 -NX_O15234 76278 703 6.05 17 Nucleus membrane;Perinuclear region;Nucleus;Nucleus speckle NA 0 PE1 -NX_O15235 15173 138 10.31 19 Mitochondrion NA 0 PE1 -NX_O15239 8072 70 8.93 X Cytosol;Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency 1 PE1 -NX_O15240 67258 615 4.76 7 Secreted;Cytoplasmic vesicle;Secretory vesicle NA 0 PE1 -NX_O15243 14254 131 6.01 1 Golgi apparatus membrane;Endosome membrane;Centrosome NA 4 PE1 -NX_O15244 62581 555 8.68 6 Membrane NA 12 PE1 -NX_O15245 61154 554 6.4 6 Basolateral cell membrane NA 12 PE1 -NX_O15247 28356 247 5.44 X Cytoplasm;Nucleus;Cell membrane;Cytoplasm;Membrane Mental retardation, X-linked, syndromic, 32 1 PE1 -NX_O15254 77629 700 6.84 4 Peroxisome;Peroxisome NA 0 PE1 -NX_O15255 22278 209 8.56 X Cell membrane NA 0 PE2 -NX_O15258 22958 196 9.56 1 Golgi apparatus membrane;Golgi apparatus NA 3 PE1 -NX_O15259 83299 732 5.11 2 Cytoplasmic vesicle;Adherens junction;Cilium;Cilium axoneme;Tight junction Senior-Loken syndrome 1;Joubert syndrome 4;Nephronophthisis 1 0 PE1 -NX_O15260 30394 269 7.64 9 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus membrane NA 5 PE1 -NX_O15263 7038 64 9.46 8 Secreted NA 0 PE1 -NX_O15264 42090 365 8.48 6 Cytosol;Nucleus;Nucleolus NA 0 PE1 -NX_O15265 95451 892 9.89 3 Cytosol;Cytoplasm;Nucleus;Nucleolus;Nucleus matrix;Cytoskeleton;Nucleoplasm Spinocerebellar ataxia 7 0 PE1 -NX_O15266 32236 292 7.23 X Cytoplasmic vesicle;Nucleus;Nucleoplasm Short stature, idiopathic, X-linked;Langer mesomelic dysplasia;Leri-Weill dyschondrosteosis 0 PE1 -NX_O15269 52744 473 5.72 9 Endoplasmic reticulum;Endoplasmic reticulum membrane Neuropathy, hereditary sensory and autonomic, 1A 1 PE1 -NX_O15270 62924 562 7.89 14 Endoplasmic reticulum membrane;Mitochondrion Neuropathy, hereditary sensory and autonomic, 1C 1 PE1 -NX_O15273 19052 167 5.2 17 Sarcomere Cardiomyopathy, familial hypertrophic 25;Limb-girdle muscular dystrophy 2G 0 PE1 -NX_O15287 68554 622 5.32 9 Cell membrane;Cytosol;Nucleus;Cytoplasm;Nucleolus Fanconi anemia complementation group G 0 PE1 -NX_O15294 116925 1046 6.22 X Membrane;Cell membrane;Cytoplasm;Nucleus;Cell membrane;Mitochondrion;Cytosol;Nucleoplasm Mental retardation, X-linked 106 0 PE1 -NX_O15296 75857 676 5.73 17 Cell membrane;Cytosol;Nucleus;Membrane;Cytoskeleton;Cytosol NA 0 PE1 -NX_O15297 66675 605 9.14 17 Endoplasmic reticulum NA 0 PE1 -NX_O15303 95468 877 8.34 5 Cell membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane;Dendrite Night blindness, congenital stationary, 1B 7 PE1 -NX_O15304 18695 175 7.86 14 Cytoplasm;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O15305 28082 246 6.35 16 Nucleus;Cytosol;Cytoplasm Congenital disorder of glycosylation 1A 0 PE1 -NX_O15315 42196 384 5.49 14 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_O15318 25914 223 4.53 5 Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_O15320 90996 804 5.15 14 Endoplasmic reticulum membrane NA 1 PE1 -NX_O15321 68861 606 6.7 14 Golgi apparatus;Lysosome membrane;Autophagosome membrane NA 9 PE1 -NX_O15327 104738 924 5.87 4 Cytoplasm;Centrosome NA 0 PE1 -NX_O15335 40476 359 9.49 17 Extracellular matrix NA 0 PE1 -NX_O15342 9374 81 8.96 5 Membrane NA 2 PE2 -NX_O15344 75251 667 6.35 X Spindle;Cytoplasm;Cytoskeleton Opitz GBBB syndrome 1 0 PE1 -NX_O15347 22980 200 8.48 X Cytoplasm;Nucleus;Nucleolus;Nucleus;Chromosome Microphthalmia, syndromic, 13 0 PE1 -NX_O15350 69623 636 6.47 1 Nucleus;Golgi apparatus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_O15353 68925 648 5.93 17 Nucleus T-cell immunodeficiency, congenital alopecia, and nail dystrophy 0 PE1 -NX_O15354 67114 613 8.68 7 Endoplasmic reticulum membrane;Cell membrane;Nucleus membrane;Cytosol NA 7 PE1 -NX_O15355 59272 546 4.28 2 Cytoplasm;Membrane;Nucleoplasm NA 0 PE1 -NX_O15357 138599 1258 6.1 11 Cytosol;Cytosol;Lamellipodium;Filopodium;Membrane;Cytoskeleton;Golgi apparatus Opsismodysplasia;Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_O15360 162775 1455 6.13 16 Nucleus;Nucleus;Cytoplasm Fanconi anemia, complementation group A 0 PE1 -NX_O15370 34122 315 5.08 20 Nucleus;Nucleoplasm NA 0 PE1 -NX_O15371 63973 548 5.79 22 Cytosol;Cytoplasm NA 0 PE1 -NX_O15372 39930 352 6.09 8 Cytosol;Cytoplasm NA 0 PE1 -NX_O15374 54022 487 8.25 1 Cytoskeleton;Cytosol;Cytoskeleton;Cell membrane NA 12 PE1 -NX_O15375 54994 505 8.59 17 Cell membrane NA 12 PE2 -NX_O15379 48848 428 4.98 5 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_O15381 95051 856 6.11 1 Nucleolus;Nucleoplasm;Nucleolus NA 0 PE1 -NX_O15382 44288 392 8.88 19 Mitochondrion;Cytoplasm NA 0 PE1 -NX_O15389 60715 551 7.01 19 Membrane NA 1 PE1 -NX_O15391 41347 372 5.76 X Nucleus;Nucleus NA 0 PE2 -NX_O15392 16389 142 5.66 17 Cytoplasm;Nucleus;Centromere;Spindle;Cytoskeleton;Midbody;Kinetochore;Chromosome;Cytoplasm NA 0 PE1 -NX_O15393 53859 492 8.12 21 Secreted;Cell membrane;Cell junction;Nucleoplasm NA 1 PE1 -NX_O15394 93046 837 5.44 21 Cell membrane;Nucleus;Cell membrane NA 1 PE1 -NX_O15397 119938 1037 5.04 12 Cytoplasm;Nucleus;Nucleus NA 0 PE1 -NX_O15399 143752 1336 8.68 19 Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, early infantile, 46 3 PE1 -NX_O15400 29816 261 5.41 6 Lysosome;Early endosome membrane NA 1 PE1 -NX_O15403 57393 523 7.95 17 Cell membrane;Cytoplasmic vesicle NA 12 PE1 -NX_O15405 63342 576 7.36 16 Nucleus;Nucleoplasm NA 0 PE1 -NX_O15409 79919 715 6.06 7 Centrosome;Cytoplasmic vesicle;Nucleus;Nucleoplasm Speech-language disorder 1 0 PE1 -NX_O15417 314519 2968 8.88 7 Cytosol;Nucleoplasm;Nucleus membrane;Mitochondrion NA 0 PE1 -NX_O15427 49469 465 8.23 17 Nucleus membrane;Cell membrane;Cell membrane NA 12 PE1 -NX_O15428 11021 100 9.59 1 NA NA 0 PE5 -NX_O15431 21091 190 6.89 9 Cell membrane NA 3 PE1 -NX_O15432 15681 143 6.25 9 Nucleus speckle;Cell membrane;Membrane;Cytoskeleton NA 3 PE1 -NX_O15438 169343 1527 6.79 17 Membrane;Cell membrane NA 17 PE1 -NX_O15439 149527 1325 8.41 13 Cytosol;Membrane;Nucleolus;Cell membrane NA 14 PE1 -NX_O15440 160660 1437 8.87 3 Nucleus;Cell junction;Cell membrane;Membrane NA 13 PE1 -NX_O15442 37207 326 6.17 22 NA NA 0 PE2 -NX_O15444 16609 150 10.2 19 Secreted NA 0 PE1 -NX_O15446 54986 510 8.66 19 Nucleolus;Mitochondrion;Nucleus;Nucleolus;Chromosome NA 0 PE1 -NX_O15453 12357 112 7.7 17 NA NA 0 PE2 -NX_O15455 103829 904 6.73 4 Endoplasmic reticulum membrane;Early endosome;Endosome membrane Herpes simplex encephalitis 2 1 PE1 -NX_O15457 104756 936 7.16 1 NA NA 0 PE1 -NX_O15460 60902 535 5.49 5 Endoplasmic reticulum;Endoplasmic reticulum lumen;Cytoplasmic vesicle Myopia 25, autosomal dominant 0 PE1 -NX_O15466 43895 376 9.19 18 Cell membrane;Golgi apparatus membrane;Midbody NA 1 PE1 -NX_O15467 13600 120 9.61 17 Secreted NA 0 PE1 -NX_O15479 35277 319 8.87 X Cytosol;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_O15480 39211 346 10.07 X NA NA 0 PE1 -NX_O15481 38923 346 9.28 X Cytoplasm NA 0 PE1 -NX_O15482 46131 410 5.86 X Membrane NA 1 PE2 -NX_O15484 73169 640 7.57 11 Cytosol;Nucleus Vitreoretinopathy, neovascular inflammatory 0 PE1 -NX_O15488 55184 501 4.97 X Cytosol;Nucleus;Nucleolus NA 0 PE1 -NX_O15492 22749 202 6.18 1 Cytosol;Membrane NA 0 PE1 -NX_O15496 18153 165 6.07 16 Secreted NA 0 PE1 -NX_O15498 22418 198 6.44 7 Cytosol;Cytoplasmic vesicle membrane;Cytosol;Golgi apparatus membrane;Mitochondrion NA 0 PE1 -NX_O15499 21545 205 10.58 22 Nucleus NA 0 PE2 -NX_O15503 29987 277 9.08 7 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 6 PE1 -NX_O15504 44872 423 9.25 7 Nuclear pore complex;Nucleus membrane;Nucleus NA 0 PE1 -NX_O15511 16320 151 5.47 1 Cytoskeleton;Cell junction;Cytosol;Cell membrane;Cytoplasmic vesicle;Cell projection NA 0 PE1 -NX_O15514 16311 142 4.75 2 Nucleoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_O15516 95304 846 6.51 4 Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_O15519 55344 480 8.19 2 Cytoplasm;Nucleus;Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_O15520 23436 208 9.61 5 Secreted Lacrimo-auriculo-dento-digital syndrome;Aplasia of lacrimal and salivary glands 0 PE1 -NX_O15522 25866 239 9.47 14 Nucleoplasm;Cell membrane;Nucleus NA 0 PE2 -NX_O15523 73154 660 7.24 Y Cytoplasm;Nucleus NA 0 PE1 -NX_O15524 23551 211 10.98 16 Nucleus;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_O15525 17850 162 10.04 17 Nucleus NA 0 PE1 -NX_O15527 38782 345 8.89 3 Nucleus;Nucleoplasm;Nucleus speckle;Nucleus matrix;Nucleoplasm;Mitochondrion Renal cell carcinoma 0 PE1 -NX_O15528 56504 508 9.34 12 Mitochondrion membrane Rickets vitamin D-dependent 1A 0 PE1 -NX_O15529 38695 346 7.55 19 Cell membrane NA 7 PE1 -NX_O15530 63152 556 6.95 16 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cell membrane;Focal adhesion NA 0 PE1 -NX_O15533 47626 448 6.68 6 Endoplasmic reticulum membrane Bare lymphocyte syndrome 1 1 PE1 -NX_O15534 136212 1290 5.73 17 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_O15535 45954 394 6.94 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_O15537 25592 224 5.51 X Cell membrane;Secreted Retinoschisis juvenile X-linked 1 0 PE1 -NX_O15539 20946 181 6.85 1 Nucleus;Cytoplasm;Membrane;Cytoplasm;Cytosol NA 0 PE1 -NX_O15540 14889 132 5.4 6 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_O15541 38787 343 5.51 X NA Trichothiodystrophy 5, non-photosensitive 0 PE1 -NX_O15544 16056 149 6.27 3 NA NA 0 PE2 -NX_O15547 48829 441 7.52 22 Cytosol;Nucleolus;Membrane NA 2 PE1 -NX_O15550 154177 1401 7.17 X Nucleus Kabuki syndrome 2 0 PE1 -NX_O15551 23319 220 8.37 7 Tight junction;Cell membrane;Cell junction NA 4 PE1 -NX_O15552 37144 330 9.5 19 Cell membrane NA 7 PE1 -NX_O15553 86444 781 8.3 16 Autophagosome;Cytoskeleton;Ruffle;Lamellipodium;Nucleus;Cytoplasm Familial Mediterranean fever, autosomal dominant;Familial Mediterranean fever, autosomal recessive 0 PE1 -NX_O15554 47696 427 9.87 19 Cell membrane Dehydrated hereditary stomatocytosis 2 6 PE1 -NX_O42043 63671 560 7.83 1 Cell membrane;Cell membrane;Virion NA 1 PE1 -NX_O43143 90933 795 7.12 4 Nucleus;Nucleus speckle;Nucleus;Nucleolus NA 0 PE1 -NX_O43147 113285 1006 6.2 17 Melanosome;Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_O43148 54844 476 6.29 18 Nucleoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_O43149 331075 2961 5.62 17 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_O43150 111651 1006 6.24 2 Cytosol;Cytoplasm;Golgi stack membrane;Cell membrane;Cytoplasm NA 0 PE1 -NX_O43151 179350 1660 7.01 2 Cytoplasmic vesicle;Chromosome;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_O43155 74049 660 7.88 14 Cell membrane;Microsome membrane;Endoplasmic reticulum membrane;Focal adhesion;Extracellular matrix;Secreted;Synaptosome NA 1 PE1 -NX_O43156 122069 1089 5.63 20 Nucleoplasm;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_O43157 232298 2135 5.29 3 Cell membrane;Secreted NA 1 PE1 -NX_O43159 50715 456 9.51 11 Nucleolus;Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_O43164 78214 708 4.28 5 Cell membrane;Endoplasmic reticulum membrane;Cytoskeleton;Golgi apparatus membrane;Cytoplasm;Postsynaptic density;Synapse NA 0 PE1 -NX_O43166 200029 1804 8.4 14 Synaptosome;Postsynaptic density;Cell membrane;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_O43167 78282 697 7.42 6 Centrosome;Nucleus;Cytoskeleton;Nucleus Immunodeficiency-centromeric instability-facial anomalies syndrome 2 0 PE1 -NX_O43169 16332 146 4.88 16 Mitochondrion outer membrane;Microtubule organizing center;Endoplasmic reticulum;Cytosol NA 1 PE1 -NX_O43172 58449 522 7.05 9 Nucleus speckle;Nucleus speckle Retinitis pigmentosa 70 0 PE1 -NX_O43173 43970 380 9.56 18 Golgi apparatus;Golgi apparatus membrane NA 1 PE1 -NX_O43174 56199 497 8.96 10 Microsome membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_O43175 56650 533 6.29 1 Cell membrane;Cytosol;Nucleoplasm Phosphoglycerate dehydrogenase deficiency;Neu-Laxova syndrome 1 0 PE1 -NX_O43181 20108 175 10.3 5 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex I deficiency;Leigh syndrome 0 PE1 -NX_O43182 105947 974 7 X Cytoplasm NA 0 PE1 -NX_O43184 99542 909 8.79 10 Cell membrane;Cell membrane;Secreted NA 1 PE1 -NX_O43186 32261 299 9.23 19 Nucleus Leber congenital amaurosis 7;Retinitis pigmentosa;Cone-rod dystrophy 2 0 PE1 -NX_O43187 69433 625 5.51 3 Cytoplasmic vesicle NA 0 PE1 -NX_O43189 62106 567 9.27 6 Centrosome;Nucleoplasm;Nucleus NA 0 PE1 -NX_O43193 45344 412 9.97 13 Cell membrane NA 7 PE2 -NX_O43194 51329 453 9.43 2 Cell membrane NA 7 PE1 -NX_O43196 92875 834 5.95 6 Cytoplasmic vesicle;Endoplasmic reticulum Premature ovarian failure 13 0 PE1 -NX_O43236 55098 478 5.77 17 Cytoplasm;Cytoskeleton;Flagellum;Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_O43237 54099 492 5.97 16 Centrosome;Cytosol;Cytoskeleton NA 0 PE1 -NX_O43240 30170 276 8.95 19 Cytosol;Cell membrane;Secreted NA 0 PE1 -NX_O43242 60978 534 8.47 17 Cytosol;Nucleoplasm NA 0 PE1 -NX_O43246 68268 635 6.59 22 Membrane NA 13 PE1 -NX_O43247 30725 280 7.77 22 NA NA 0 PE1 -NX_O43248 33748 304 8.81 12 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_O43251 41374 390 6.71 22 Nucleoplasm;Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_O43252 70833 624 6.4 4 Nucleus;Nucleolus NA 0 PE1 -NX_O43255 34615 324 6.71 3 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O43257 17536 154 9.55 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_O43261 8962 78 5.14 13 Cytosol;Cell membrane NA 0 PE1 -NX_O43264 88829 779 5.89 11 Endoplasmic reticulum;Cytoplasm;Cytosol;Cytoplasm;Endoplasmic reticulum membrane;Kinetochore;Spindle NA 0 PE1 -NX_O43272 68002 600 7.96 22 Mitochondrion matrix Hyperprolinemia 1;Schizophrenia 4 0 PE1 -NX_O43278 58398 529 5.89 15 Cell membrane;Secreted;Cytosol NA 0 PE1 -NX_O43280 66568 583 5.46 11 Cell membrane NA 0 PE1 -NX_O43281 58815 561 4.98 14 Nucleoplasm;Cytosol NA 0 PE1 -NX_O43283 108296 966 6.05 3 Microtubule organizing center;Cytosol;Nucleoplasm;Membrane;Cytoplasm NA 0 PE1 -NX_O43286 45119 388 8.21 20 Golgi stack membrane NA 1 PE1 -NX_O43290 90255 800 5.89 11 Nucleus speckle;Golgi apparatus;Nucleus NA 0 PE1 -NX_O43291 28228 252 8.68 19 Cytosol;Cell membrane;Cytoskeleton;Membrane Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies 1 PE1 -NX_O43292 67623 621 8.15 8 Endoplasmic reticulum membrane NA 7 PE1 -NX_O43293 52536 454 6.44 19 Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_O43294 49814 461 6.62 16 Nucleus matrix;Cytosol;Focal adhesion;Focal adhesion;Cytoskeleton NA 0 PE1 -NX_O43295 124504 1099 6.23 3 Nucleoplasm NA 0 PE1 -NX_O43296 70587 627 7.36 19 Nucleus NA 0 PE1 -NX_O43298 52630 467 5.46 9 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_O43299 88605 807 6.57 7 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle Spastic paraplegia 48, autosomal recessive 0 PE1 -NX_O43300 59076 516 8.27 5 Cell membrane;Postsynaptic cell membrane NA 1 PE1 -NX_O43301 74978 675 6.32 10 Cytosol;Golgi apparatus NA 0 PE1 -NX_O43303 113424 1012 8.83 16 Centriole;Centrosome;Centrosome;Cilium basal body NA 0 PE1 -NX_O43304 78942 696 6.08 16 Golgi apparatus;Cytosol NA 0 PE1 -NX_O43306 130615 1168 8.56 12 Cell membrane;Cilium;Golgi apparatus Lethal congenital contracture syndrome 8 12 PE1 -NX_O43307 60982 516 5.47 X Cytosol;Cytoplasm Epileptic encephalopathy, early infantile, 8 0 PE1 -NX_O43309 70222 604 6.28 6 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 -NX_O43310 67587 598 6.1 18 Cytosol;Perinuclear region NA 0 PE1 -NX_O43312 82251 755 6.47 8 Cytoskeleton NA 0 PE1 -NX_O43313 88348 823 5.02 16 Nucleus;Nucleus NA 0 PE1 -NX_O43314 140407 1243 8.47 5 Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_O43315 31431 295 7.67 15 Membrane NA 6 PE1 -NX_O43316 37833 350 9.42 7 Nucleus Maturity-onset diabetes of the young 9;Diabetes mellitus, non-insulin-dependent;Diabetes mellitus, insulin-dependent;Diabetes mellitus, ketosis-prone 0 PE1 -NX_O43318 67196 606 6.69 6 Cytoplasm;Cell membrane;Cytosol;Nucleus speckle Frontometaphyseal dysplasia 2;Cardiospondylocarpofacial syndrome 0 PE1 -NX_O43320 23759 207 9.22 X Secreted Metacarpal 4-5 fusion 0 PE1 -NX_O43323 43577 396 9.4 12 Extracellular space;Cell membrane 46,XY sex reversal 7;Partial gonadal dysgenesis with minifascicular neuropathy 46,XY 0 PE1 -NX_O43324 19811 174 8.55 6 Cytoplasm;Nucleus;Cytosol;Nucleus;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_O43325 14282 122 9.95 16 Nucleus;Midbody;Nucleoplasm NA 0 PE1 -NX_O43345 147487 1280 9.2 19 Nucleus NA 0 PE2 -NX_O43347 39125 362 7.7 12 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_O43353 61195 540 6.63 8 Cytosol;Cytoplasm NA 0 PE1 -NX_O43361 90364 778 9.01 19 Nucleus;Nucleus membrane;Nucleoplasm NA 0 PE1 -NX_O43364 41002 376 5.54 7 Nucleus;Cytoplasmic vesicle;Nucleus Microtia, hearing impairment, and cleft palate;Microtia with or without hearing impairment 0 PE1 -NX_O43365 46369 443 9.3 7 Nucleus;Nucleoplasm NA 0 PE1 -NX_O43374 90458 803 8.01 7 Cytosol;Cell membrane NA 0 PE2 -NX_O43379 165954 1518 5.57 19 Cytosol;Nucleus;Centriole;Spindle pole;Centrosome Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 PE1 -NX_O43390 70943 633 8.23 1 Nucleoplasm;Microsome;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O43395 77529 683 9.5 1 Nucleus speckle;Nucleoplasm Retinitis pigmentosa 18 0 PE1 -NX_O43396 32251 289 4.84 18 Cytoplasm;Nucleus;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_O43399 22238 206 5.26 20 Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_O43402 23773 210 5.92 16 Mitochondrion;Cytoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_O43405 59483 550 8.17 14 Cytoplasmic vesicle;Extracellular matrix Deafness, autosomal dominant, 9 0 PE1 -NX_O43414 37238 337 8.33 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_O43422 87704 761 5.58 11 Nucleoplasm NA 0 PE1 -NX_O43423 26762 234 4.14 4 NA NA 0 PE1 -NX_O43424 113356 1007 5.73 4 Postsynaptic cell membrane;Cell membrane Spinocerebellar ataxia, autosomal recessive, 18 3 PE1 -NX_O43426 173103 1573 7.13 21 Cytosol;Centrosome;Perinuclear region;Nucleoplasm Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset 0 PE1 -NX_O43427 41878 364 6.02 11 Nucleus speckle;Nucleus;Endomembrane system Thauvin-Robinet-Faivre syndrome 0 PE1 -NX_O43432 176652 1585 5.27 1 Cytoplasm;Cytosol NA 0 PE1 -NX_O43435 43133 398 8.37 22 Cytosol;Nucleus;Nucleus Velocardiofacial syndrome;Conotruncal heart malformations;DiGeorge syndrome 0 PE1 -NX_O43439 67133 604 8.32 20 Nucleus speckle;Nucleus NA 0 PE1 -NX_O43447 19208 177 8.28 1 Nucleus speckle;Cytoplasm NA 0 PE1 -NX_O43448 43670 404 8.87 17 Mitochondrion;Cytoplasm NA 0 PE2 -NX_O43451 209852 1857 5.27 7 Apical cell membrane NA 1 PE1 -NX_O43462 57444 519 7.21 X Cytosol;Mitochondrion;Membrane;Cytoplasm;Nucleoplasm Keratosis follicularis spinulosa decalvans X-linked;IFAP syndrome with or without BRESHECK syndrome;Olmsted syndrome, X-linked 10 PE1 -NX_O43463 47907 412 8.38 X Nucleus;Nucleus lamina;Nucleoplasm;Centromere NA 0 PE1 -NX_O43464 48841 458 10.07 2 Mitochondrion;Mitochondrion intermembrane space;Mitochondrion membrane Parkinson disease 13;3-methylglutaconic aciduria 8 1 PE1 -NX_O43474 54671 513 8.69 9 Nucleus;Nucleoplasm NA 0 PE1 -NX_O43482 24691 229 7.02 15 Nucleus;Chromosome;Centromere;Nucleoplasm NA 0 PE1 -NX_O43488 39589 359 6.7 1 Golgi apparatus;Cytoplasm NA 0 PE1 -NX_O43490 97202 865 6.97 4 Cell membrane;Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum;Apical cell membrane;Microvillus membrane;Photoreceptor outer segment Stargardt disease 4;Retinitis pigmentosa 41;Retinal macular dystrophy 2;Cone-rod dystrophy 12 5 PE1 -NX_O43491 112588 1005 5.34 6 Cell cortex;Nucleus;Cytoskeleton;Cell junction;Cell membrane;Cell membrane NA 0 PE1 -NX_O43493 51113 480 5.53 2 Nucleoplasm;Golgi apparatus;trans-Golgi network membrane;Cell membrane NA 1 PE1 -NX_O43497 262472 2377 6.14 17 Cell membrane;Cytoplasm Spinocerebellar ataxia 42 24 PE1 -NX_O43502 42190 376 6.28 17 Cytoplasmic vesicle;Nucleus;Cell junction;Cytosol;Nucleus;Cytoplasm;Perinuclear region;Mitochondrion;Mitochondrion Fanconi anemia complementation group O;Breast-ovarian cancer, familial, 3 0 PE1 -NX_O43504 9614 91 4.69 1 Cytoplasm;Lysosome NA 0 PE1 -NX_O43505 47119 415 6.77 11 Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 1 PE1 -NX_O43506 81603 726 6.02 14 Membrane NA 1 PE1 -NX_O43508 27216 249 9.5 17 Cell membrane;Secreted;Cell membrane NA 1 PE1 -NX_O43511 85723 780 6.04 7 Membrane;Cell membrane Pendred syndrome;Deafness, autosomal recessive, 4 12 PE1 -NX_O43513 27245 233 5.5 5 Nucleus;Nucleus NA 0 PE1 -NX_O43516 51258 503 11.47 2 Cell membrane;Cytoplasmic vesicle;Cytoskeleton;Ruffle;Cytosol Wiskott-Aldrich syndrome 2 0 PE1 -NX_O43520 143695 1251 6.77 18 Cell membrane;Apical cell membrane;Stereocilium;Golgi apparatus;Endoplasmic reticulum Cholestasis of pregnancy, intrahepatic 1;Cholestasis, progressive familial intrahepatic, 1;Cholestasis, benign recurrent intrahepatic, 1 10 PE1 -NX_O43521 22171 198 8.43 2 Endomembrane system;Mitochondrion NA 0 PE1 -NX_O43524 71277 673 4.98 6 Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_O43525 96742 872 8.98 8 Cell membrane Seizures, benign familial neonatal 2 6 PE1 -NX_O43526 95848 872 9.35 20 Cell membrane;Endoplasmic reticulum Epileptic encephalopathy, early infantile, 7;Seizures, benign familial neonatal 1 6 PE1 -NX_O43529 42207 356 8.11 2 Golgi apparatus membrane;Cytosol NA 1 PE1 -NX_O43541 53497 496 8.46 15 Nucleus;Nucleus;Nucleus;Golgi apparatus Aortic valve disease 2;Craniosynostosis 7 0 PE1 -NX_O43542 37850 346 8.81 14 Nucleus;Perinuclear region;Mitochondrion;Nucleus;Cytoplasm Melanoma, cutaneous malignant 6;Breast cancer 0 PE1 -NX_O43543 31956 280 5.67 7 Centrosome;Nucleus;Cytoplasmic vesicle;Nucleoplasm Fanconi anemia, complementation group U 0 PE1 -NX_O43548 80778 720 6.01 15 Cytoplasm Peeling skin syndrome 2 0 PE1 -NX_O43555 12918 120 11.12 20 Secreted NA 0 PE2 -NX_O43556 49851 437 6.12 7 Sarcolemma;Cytoskeleton;Dendrite;Golgi apparatus;Golgi apparatus;Nucleoplasm;Cell membrane;Cytoplasmic vesicle Dystonia 11, myoclonic 1 PE1 -NX_O43557 26350 240 9.09 19 Cytoplasm;Secreted;Cell membrane NA 1 PE1 -NX_O43559 54462 492 6.81 6 Membrane;Nucleoplasm NA 0 PE1 -NX_O43561 27930 262 4.27 16 Cell membrane Immunodeficiency 52 1 PE1 -NX_O43566 61447 566 8.46 5 Membrane;PML body;Cytoplasm;Cell membrane;Nucleoplasm;Cytoplasmic vesicle;Centrosome;Spindle;Spindle pole;Dendrite;Dendritic spine;Postsynaptic density;Nucleus NA 0 PE1 -NX_O43567 42814 381 4.83 3 Cytoplasmic vesicle;Cytosol;Nucleoplasm;Endoplasmic reticulum membrane;Golgi apparatus membrane;Late endosome membrane;Lysosome membrane;Nucleus inner membrane NA 1 PE1 -NX_O43570 39451 354 6.73 15 Nucleus;Membrane;Cytoplasmic vesicle Hyperchlorhidrosis, isolated 1 PE1 -NX_O43572 73818 662 5.96 17 Mitochondrion;Membrane;Cytoplasm;Cell membrane;Cytosol Sudden cardiac death 0 PE1 -NX_O43581 45501 403 9.29 11 Secretory vesicle membrane;Phagosome membrane;Lysosome membrane;Cell membrane;Presynaptic cell membrane;Synaptic vesicle membrane;Peroxisome membrane NA 1 PE1 -NX_O43583 22092 198 5.21 12 Cytosol NA 0 PE1 -NX_O43586 47591 416 5.35 15 Cytoplasm;Cell membrane;Uropodium;Cytoskeleton;Perinuclear region;Lamellipodium;Cleavage furrow PAPA syndrome 0 PE1 -NX_O43592 109964 962 5.24 12 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O43593 127495 1189 6.67 8 Nucleoplasm;Nucleus Hypotrichosis 4;Atrichia with papular lesions;Alopecia universalis congenita 0 PE1 -NX_O43597 34688 315 8.78 13 Endosome;Ruffle membrane;Cytoskeleton;Cytoskeleton IgA nephropathy 3 0 PE1 -NX_O43598 19108 174 4.97 6 Nucleus;Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_O43602 40574 365 9.33 X Cytoplasm;Cell projection Lissencephaly, X-linked 1;Subcortical band heterotopia X-linked 0 PE1 -NX_O43603 41700 387 9.6 17 Cell membrane NA 7 PE1 -NX_O43609 35122 319 8.65 4 Membrane;Nucleoplasm;Golgi apparatus;Cytosol;Cytoplasm NA 0 PE1 -NX_O43610 31222 288 7.4 X Cytoplasm;Membrane;Nucleolus;Cytosol NA 0 PE1 -NX_O43612 13363 131 10.8 17 Synapse;Rough endoplasmic reticulum;Cytoplasmic vesicle Narcolepsy 1 0 PE1 -NX_O43613 47536 425 9.3 1 Cell membrane NA 7 PE1 -NX_O43614 50694 444 8.99 6 Cell membrane NA 7 PE1 -NX_O43615 51356 452 8.51 19 Mitochondrion inner membrane;Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_O43617 20274 180 4.88 1 Golgi apparatus;Endoplasmic reticulum;Golgi apparatus;Cytosol;cis-Golgi network;Endoplasmic reticulum NA 0 PE1 -NX_O43623 29986 268 9.01 8 Nucleus;Nucleus;Cytoplasm Piebald trait;Waardenburg syndrome 2D 0 PE1 -NX_O43633 25104 222 5.87 19 Nucleus;Cell membrane;Late endosome membrane;Cytosol NA 0 PE1 -NX_O43638 35434 330 9.28 20 Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_O43639 42915 380 6.49 2 Endoplasmic reticulum;Cytoplasm NA 0 PE1 -NX_O43653 12912 123 5.07 8 Cell membrane;Cell membrane NA 0 PE1 -NX_O43657 27563 245 8.44 X Membrane;Cytosol NA 4 PE1 -NX_O43660 57194 514 9.24 4 Nucleus membrane;Nucleus speckle;Nucleus speckle;Nucleus NA 0 PE1 -NX_O43663 71607 620 6.29 15 Nucleus;Nucleus;Cytoplasm;Spindle pole;Midbody;Cytoskeleton;Nucleoplasm;Cell membrane NA 0 PE1 -NX_O43665 20236 173 5.35 10 Nucleus;Cytoplasm;Nucleus;Nucleus;Cell membrane;Cytosol NA 0 PE1 -NX_O43670 50751 478 9.19 17 Nucleus;Kinetochore;Spindle;Nucleus NA 0 PE1 -NX_O43674 21750 189 9.62 3 Mitochondrion;Mitochondrion inner membrane;Nucleoplasm NA 1 PE1 -NX_O43676 11402 98 9.19 2 Mitochondrion inner membrane Mitochondrial complex I deficiency 1 PE1 -NX_O43677 8734 76 10.2 4 Cell membrane;Mitochondrion;Mitochondrion inner membrane;Mitochondrion NA 1 PE1 -NX_O43678 10922 99 9.62 5 Mitochondrion inner membrane NA 0 PE1 -NX_O43679 42793 373 6.47 4 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_O43680 19715 179 9.15 6 Nucleus NA 0 PE2 -NX_O43681 38793 348 4.81 19 Nucleus;Nucleolus;Nucleolus;Endoplasmic reticulum;Cytoplasm NA 0 PE1 -NX_O43683 122375 1085 6.03 2 Kinetochore;Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_O43684 37155 328 6.36 10 Nucleoplasm;Kinetochore;Nucleus NA 0 PE1 -NX_O43687 11465 104 4.89 6 Lateral cell membrane;Apical cell membrane NA 0 PE1 -NX_O43688 32574 288 8.65 19 Membrane;Mitochondrion NA 6 PE1 -NX_O43692 29065 258 8.37 8 Secreted NA 0 PE1 -NX_O43699 49913 453 6.7 19 Cell membrane;Secreted NA 1 PE1 -NX_O43704 34899 296 6.57 4 Golgi apparatus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_O43707 104854 911 5.27 19 Cytosol;Cell junction;Cytoplasm;Nucleus;Nucleus Focal segmental glomerulosclerosis 1 0 PE1 -NX_O43708 24212 216 8.8 14 Nucleus;Cytosol;Cytoplasm Maleylacetoacetate isomerase deficiency 0 PE1 -NX_O43709 31880 281 8.95 7 Nucleus;Nucleolus;Nucleoplasm;Perinuclear region;Cytoplasm;Nucleus NA 0 PE1 -NX_O43711 31867 291 9.95 5 Centrosome;Nucleoplasm;Nucleus NA 0 PE1 -NX_O43715 8786 76 5.37 12 Mitochondrion;Nucleoplasm;Mitochondrion intermembrane space;Mitochondrion;Perinuclear region NA 0 PE1 -NX_O43716 15086 136 4.94 12 Mitochondrion NA 0 PE1 -NX_O43719 85853 755 4.29 X Nucleus;Nucleoplasm NA 0 PE1 -NX_O43731 25027 214 9.07 22 Endoplasmic reticulum;Endoplasmic reticulum membrane NA 7 PE1 -NX_O43734 64666 574 6.27 6 Golgi apparatus;Cytoplasmic vesicle Psoriasis 13;Candidiasis, familial, 8 0 PE1 -NX_O43736 29741 263 5.65 X Nucleoplasm;Membrane NA 1 PE1 -NX_O43739 46349 400 5.35 7 Cytosol;Cell membrane;Adherens junction;Nucleoplasm;Cytosol;Tight junction NA 0 PE1 -NX_O43741 30302 272 5.99 1 Nucleoplasm NA 0 PE1 -NX_O43745 22452 196 5.89 16 Nucleus;Cytoplasm;Cell membrane NA 0 PE1 -NX_O43747 91351 822 6.36 16 Golgi apparatus;Cytosol;Cytoplasmic vesicle;Clathrin-coated vesicle membrane NA 0 PE1 -NX_O43749 34866 312 7.59 16 Cell membrane NA 7 PE2 -NX_O43752 29176 255 4.84 1 Golgi apparatus membrane;Nucleoplasm;Golgi apparatus NA 1 PE1 -NX_O43759 25456 233 4.5 22 Cytosol;Synaptic vesicle membrane;Melanosome NA 4 PE1 -NX_O43760 24810 224 4.75 17 Cytoplasmic vesicle membrane;Synaptic vesicle membrane;Lipid droplet NA 4 PE1 -NX_O43761 24555 229 8.42 16 Cell membrane;Synapse;Synaptic vesicle membrane NA 4 PE1 -NX_O43763 30251 284 11.09 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_O43765 34063 313 4.81 19 Cytoplasm;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_O43766 41911 372 8.84 4 Mitochondrion;Mitochondrion;Nucleoplasm Hyperglycinemia, lactic acidosis, and seizures 0 PE1 -NX_O43768 13389 121 6.62 1 Cytosol;Cytoplasm;Nucleolus;Cytoskeleton;Nucleus NA 0 PE1 -NX_O43772 32944 301 9.48 3 Mitochondrion inner membrane;Cytosol;Mitochondrion Carnitine-acylcarnitine translocase deficiency 6 PE1 -NX_O43776 62943 548 5.9 18 Cytosol;Cytoplasm NA 0 PE1 -NX_O43781 65714 588 9.41 1 Cytosol;Nucleoplasm;Cytoplasmic granule;Nucleus NA 0 PE1 -NX_O43790 53501 486 5.56 12 Cytosol Monilethrix 0 PE1 -NX_O43791 42132 374 5.58 17 Nucleus;Nucleus speckle NA 0 PE1 -NX_O43795 131985 1136 9.43 2 Cell membrane NA 0 PE1 -NX_O43805 13596 119 5.37 9 Nucleus;Centrosome NA 0 PE1 -NX_O43808 34567 307 10.09 22 Peroxisome;Peroxisome membrane;Cytoplasm NA 6 PE1 -NX_O43809 26227 227 8.85 16 Centrosome;Nucleus;Microtubule organizing center;Nucleus NA 0 PE1 -NX_O43812 19347 170 11.17 10 Nucleus NA 0 PE1 -NX_O43813 45283 399 7.86 2 Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_O43815 86132 780 5.12 2 Nucleoplasm;Cytoplasm;Membrane;Dendritic spine;Cytosol NA 0 PE1 -NX_O43818 51841 475 7.97 3 Nucleus;Nucleolus NA 0 PE1 -NX_O43819 29810 266 9.01 22 Mitochondrion;Nucleoplasm;Mitochondrion Myopia 6;Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1;Leigh syndrome 0 PE1 -NX_O43820 46501 417 8.55 3 Secreted;Endoplasmic reticulum;Acrosome;Early endosome;Cell membrane NA 0 PE1 -NX_O43822 28340 256 6.97 21 Cilium basal body;Cytoplasm;Photoreceptor outer segment;Mitochondrion;Nucleoplasm Retinal dystrophy with or without macular staphyloma;Spondylometaphyseal dysplasia, axial 0 PE1 -NX_O43823 76108 692 5.03 19 Nucleoplasm;Nucleus;Nucleus matrix;Nucleolus;Cytoplasm NA 0 PE1 -NX_O43824 56883 516 9.49 X Mitochondrion NA 0 PE1 -NX_O43825 49213 422 9.5 1 Cell membrane;Golgi apparatus membrane NA 1 PE1 -NX_O43826 46360 429 8.85 11 Mitochondrion;Endoplasmic reticulum membrane Glycogen storage disease 1D;Glycogen storage disease 1C;Glycogen storage disease 1B 10 PE1 -NX_O43827 40018 346 7.98 1 Secreted NA 0 PE1 -NX_O43829 50956 449 5.69 18 Cytosol;Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_O43830 38241 326 9.35 22 Nucleus NA 0 PE3 -NX_O43837 42184 385 8.64 20 Mitochondrion;Mitochondrion Retinitis pigmentosa 46 0 PE1 -NX_O43847 131572 1150 4.89 1 Nucleoplasm NA 0 PE1 -NX_O43852 37107 315 4.47 7 Sarcoplasmic reticulum lumen;Endoplasmic reticulum membrane;Endoplasmic reticulum;Golgi apparatus;Secreted;Melanosome NA 0 PE1 -NX_O43854 53765 480 7.08 5 Secreted NA 0 PE1 -NX_O43861 129304 1147 7.67 18 trans-Golgi network membrane NA 10 PE1 -NX_O43865 58951 530 6.49 1 Cytosol;Cytosol;Microsome;Apical cell membrane;Endoplasmic reticulum NA 0 PE1 -NX_O43866 38088 347 5.28 1 Secreted;Cytoplasm NA 0 PE1 -NX_O43868 71926 658 8.29 15 Membrane NA 14 PE2 -NX_O43869 41996 369 8.71 1 Cell membrane NA 7 PE3 -NX_O43889 43917 395 4.84 9 Endoplasmic reticulum membrane;Membrane;Nucleus;Cytoplasm;Cytosol;Nucleus NA 1 PE1 -NX_O43895 75625 674 5.69 X Cell membrane;Golgi apparatus Angioedema induced by ACE inhibitors 0 PE1 -NX_O43896 122947 1103 6.47 17 Cytoskeleton Spastic ataxia 2, autosomal recessive 0 PE1 -NX_O43897 114709 1013 5.69 4 Secreted;Cytoplasmic vesicle Atrial septal defect 6 0 PE1 -NX_O43900 68609 615 8.24 X Cell membrane;Nucleus;Cytoplasm;Cell membrane;Centrosome NA 0 PE1 -NX_O43903 34945 313 8.76 11 Cytosol;Nucleolus;Cell membrane;Nucleus;Cytoskeleton;Membrane NA 0 PE1 -NX_O43908 18234 158 9.28 12 Membrane NA 1 PE2 -NX_O43909 104749 919 6.08 8 Endoplasmic reticulum membrane;Golgi apparatus Immunoskeletal dysplasia with neurodevelopmental abnormalities 1 PE1 -NX_O43913 50283 435 7.63 7 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_O43914 12179 113 8.55 19 Membrane Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 PE1 -NX_O43915 40444 354 8.16 X Secreted NA 0 PE1 -NX_O43916 46715 411 9.17 11 Golgi apparatus membrane NA 1 PE1 -NX_O43918 57727 545 7.53 21 Nucleus;Cytoplasm Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia 0 PE1 -NX_O43920 12518 106 9.27 1 Cytosol;Mitochondrion intermembrane space;Nucleus;Mitochondrion inner membrane NA 0 PE1 -NX_O43921 23878 213 6.99 19 Cell membrane NA 0 PE1 -NX_O43924 17420 150 5.57 2 Cytosol;Cytoplasmic vesicle membrane;Cilium basal body Joubert syndrome 22 0 PE1 -NX_O43927 12664 109 10.35 4 Secreted NA 0 PE1 -NX_O43929 50377 436 8.08 2 Nucleolus;Nucleus;Nucleus Meier-Gorlin syndrome 2 0 PE1 -NX_O43930 31708 277 6.46 Y NA NA 0 PE5 -NX_O43933 142867 1283 5.91 7 Peroxisome;Cytoplasm;Peroxisome membrane Peroxisome biogenesis disorder complementation group 1;Heimler syndrome 1;Peroxisome biogenesis disorder 1A;Peroxisome biogenesis disorder 1B 0 PE1 -NX_O43934 49202 449 5.48 17 Nucleus speckle;Membrane NA 12 PE1 -NX_O60216 71690 631 4.54 8 Nucleoplasm;Nucleus;Chromosome;Centromere Cornelia de Lange syndrome 4 0 PE1 -NX_O60218 36020 316 7.66 7 Lysosome;Secreted NA 0 PE1 -NX_O60220 10998 97 5.08 X Mitochondrion inner membrane;Mitochondrion Mohr-Tranebjaerg syndrome 0 PE1 -NX_O60224 21858 188 9.16 X NA NA 0 PE2 -NX_O60225 21660 188 9.35 X NA NA 0 PE1 -NX_O60229 340174 2985 5.72 3 Cytoplasm;Cytoskeleton;Nucleoplasm;Cytosol Coronary heart disease 5 0 PE1 -NX_O60231 119264 1041 6.39 6 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_O60232 21474 199 5.12 11 Cytosol NA 0 PE1 -NX_O60234 16801 142 5.18 19 NA NA 0 PE1 -NX_O60235 46263 418 8.69 4 Cell membrane;Secreted NA 1 PE1 -NX_O60237 110404 982 5.53 1 Cytoskeleton;Cell membrane;Cytoplasm NA 0 PE1 -NX_O60238 23930 219 5.52 8 Nucleus;Cytoplasm;Nucleus speckle;Membrane;Mitochondrion;Nucleus envelope;Endoplasmic reticulum;Mitochondrion outer membrane NA 1 PE1 -NX_O60239 50425 455 4.92 3 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_O60240 55990 522 6.03 15 Endoplasmic reticulum;Peroxisome;Lipid droplet Lipodystrophy, familial partial, 4 0 PE1 -NX_O60241 172656 1585 7.5 1 Centrosome;Cell membrane NA 7 PE1 -NX_O60242 171518 1522 6.69 6 Cell membrane NA 7 PE1 -NX_O60243 48226 411 9.04 2 Membrane;Nucleoplasm Hypogonadotropic hypogonadism 15 with or without anosmia 1 PE1 -NX_O60244 160607 1454 8.97 X Nucleoplasm;Nucleus NA 0 PE1 -NX_O60245 116071 1069 5.02 4 Cell junction;Cell membrane;Cell membrane NA 1 PE1 -NX_O60248 25251 233 9.78 17 Cytoplasmic vesicle;Nucleus;Nucleus;Nucleolus;Golgi apparatus NA 0 PE1 -NX_O60256 40926 369 7.08 17 Nucleoplasm;Cytosol NA 0 PE1 -NX_O60258 24891 216 10.43 8 Secreted Hypogonadotropic hypogonadism 20 with or without anosmia 0 PE1 -NX_O60259 28048 260 7.52 19 Secreted;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_O60260 51641 465 6.71 6 Endoplasmic reticulum;Mitochondrion;Cytosol;Nucleus Parkinson disease;Parkinson disease 2 0 PE1 -NX_O60262 7522 68 8.71 19 Cell membrane NA 0 PE1 -NX_O60264 121905 1052 8.27 4 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_O60266 128960 1144 6.15 2 Cell membrane;Cytoplasm;Cilium;Golgi apparatus NA 12 PE1 -NX_O60268 46639 411 4.98 16 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_O60269 47450 458 6.28 10 NA NA 0 PE1 -NX_O60271 146205 1321 5.05 17 Microtubule organizing center;Cytoplasm;Cytosol;Acrosome;Perinuclear region;Cytoplasm NA 0 PE1 -NX_O60279 68021 629 4.79 3 Golgi apparatus;Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_O60281 304816 2723 7.27 6 Nucleus;Nucleus membrane;Nucleus NA 0 PE1 -NX_O60282 109495 957 5.86 2 Cell membrane;Nucleolus;Cytoskeleton;Cytosol Cortical dysplasia, complex, with other brain malformations 2 0 PE1 -NX_O60284 115155 1047 5.72 8 Nucleus NA 0 PE1 -NX_O60285 74305 661 8.97 12 Nucleolus;Nucleus;Nucleus;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_O60287 254389 2271 6.03 21 Nucleolus;Nucleolus NA 0 PE1 -NX_O60290 131654 1169 6.87 7 Mitochondrion;Nucleus NA 0 PE2 -NX_O60291 60753 552 5.01 16 Nucleus;Cell membrane;Early endosome;Cytosol NA 0 PE1 -NX_O60292 194610 1781 8.57 19 Nucleus speckle;Nucleus membrane;Apical cell membrane Cataract 45 0 PE1 -NX_O60293 226356 1989 8.39 12 Nucleus;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_O60294 75602 686 6.25 15 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_O60296 101419 914 5.15 2 Nucleoplasm;Cytoplasm;Early endosome;Cytoplasmic vesicle;Mitochondrion;Nucleus NA 0 PE1 -NX_O60299 71791 673 7.56 20 Synapse;Postsynaptic density;Cytoskeleton NA 0 PE1 -NX_O60303 180918 1618 5.57 16 Nucleus speckle;Cilium axoneme;Cell membrane;Cilium basal body;Cytoskeleton Joubert syndrome 26 0 PE1 -NX_O60304 53674 480 6.84 16 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_O60306 171295 1485 5.96 15 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_O60307 143137 1309 8.24 19 Nucleus speckle NA 0 PE1 -NX_O60308 104448 925 7.54 1 Centriole;Centrosome;Spindle pole;Cilium Joubert syndrome 25 0 PE1 -NX_O60309 180621 1634 5.2 17 Membrane NA 1 PE1 -NX_O60312 167688 1499 8.7 15 Endoplasmic reticulum membrane;Cell membrane Angelman syndrome 10 PE1 -NX_O60313 111631 960 7.87 3 Mitochondrion intermembrane space;Mitochondrion;Mitochondrion inner membrane;Nucleoplasm;Mitochondrion membrane Dominant optic atrophy plus syndrome;Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type;Behr syndrome;Optic atrophy 1 1 PE1 -NX_O60315 136447 1214 5.9 2 Cytosol;Nucleus;Nucleolus;Nucleus Mowat-Wilson syndrome 0 PE1 -NX_O60318 218405 1980 5.99 21 Cytoplasm;Cytosol;Nucleoplasm;Nucleus envelope;Nuclear pore complex;Nucleus;Nucleus membrane NA 0 PE1 -NX_O60320 56544 539 5.18 15 Membrane;Nucleus NA 4 PE2 -NX_O60330 100955 932 4.9 5 Cell membrane NA 1 PE2 -NX_O60331 73260 668 5.17 19 Nucleoplasm;Cytosol;Nucleus;Cytoplasm;Focal adhesion;Adherens junction;Ruffle membrane;Phagocytic cup;Uropodium;Cell membrane;Endomembrane system Lethal congenital contracture syndrome 3 0 PE1 -NX_O60333 204476 1816 5.42 1 Cytosol;Nucleolus;Cytoplasmic vesicle;Cytoskeleton;Mitochondrion Neuroblastoma 1;Pheochromocytoma;Charcot-Marie-Tooth disease 2A1 0 PE1 -NX_O60336 163818 1514 6.31 15 Nucleolus;Spindle pole;Nucleus;Cytoplasm Nephronophthisis 20 0 PE1 -NX_O60337 102545 910 5.85 5 Endoplasmic reticulum;Endoplasmic reticulum membrane NA 14 PE1 -NX_O60341 92903 852 6.11 1 Cytosol;Nucleoplasm;Nucleus Cleft palate, psychomotor retardation, and distinctive facial features 0 PE1 -NX_O60343 146563 1298 6.57 13 Cytoplasm;Cytosol Diabetes mellitus, non-insulin-dependent, 5 0 PE1 -NX_O60344 99773 883 4.98 3 Cytosol;Golgi apparatus membrane;Cytoplasmic granule membrane;Nucleus NA 1 PE1 -NX_O60346 184672 1717 5.88 18 Cytoplasm;Membrane;Nucleus;Cell membrane NA 0 PE1 -NX_O60347 85626 775 5.56 10 Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_O60353 79292 706 8.29 8 Membrane;Cell membrane;Cell surface;Apical cell membrane;Cytoplasmic vesicle membrane;Cell membrane Nail disorder, non-syndromic congenital, 10 7 PE1 -NX_O60356 8873 82 9.98 16 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_O60359 35549 315 9.53 16 Membrane NA 4 PE1 -NX_O60361 15529 137 8.76 12 NA NA 0 PE5 -NX_O60381 57645 514 5.79 7 Nucleus speckle;Nucleus NA 0 PE1 -NX_O60383 51444 454 9.19 5 Secreted NA 0 PE1 -NX_O60384 11997 105 8.91 19 NA NA 0 PE5 -NX_O60391 112992 1043 9.37 19 Cell membrane;Postsynaptic cell membrane NA 3 PE2 -NX_O60393 73906 691 5.79 7 Nucleus Premature ovarian failure 5 0 PE1 -NX_O60397 11841 106 9.57 4 Mitochondrion inner membrane NA 0 PE5 -NX_O60403 34663 315 8.71 19 Cell membrane NA 7 PE2 -NX_O60404 35721 316 9.22 19 Cell membrane NA 7 PE2 -NX_O60412 35323 319 7.99 19 Cell membrane NA 7 PE3 -NX_O60422 50037 494 9.9 19 Nucleoplasm;Nucleus NA 0 PE3 -NX_O60423 146752 1300 8.18 19 Acrosome membrane;Endoplasmic reticulum membrane NA 10 PE1 -NX_O60427 51964 444 8.98 11 Endoplasmic reticulum membrane;Mitochondrion NA 4 PE1 -NX_O60431 39297 355 7.14 19 Cell membrane NA 7 PE3 -NX_O60437 204747 1756 5.47 16 Nucleoplasm;Cell membrane;Cytoskeleton;Desmosome;Cytosol;Mitochondrion;Nucleus;Cell membrane NA 0 PE1 -NX_O60443 54555 496 5.03 7 Cytosol;Cytosol;Cell membrane Deafness, autosomal dominant, 5 0 PE1 -NX_O60447 92949 810 5.78 1 Nucleus;Golgi apparatus;Spindle;Centrosome;Cytoplasmic vesicle NA 0 PE1 -NX_O60449 198311 1722 6.22 2 Membrane;Golgi apparatus NA 1 PE1 -NX_O60462 104859 931 5.04 2 Cytoplasmic vesicle;Cell membrane;Membrane;Secreted NA 1 PE1 -NX_O60469 222260 2012 7.78 21 Synapse;Cytosol;Nucleoplasm;Axon;Secreted;Cell membrane NA 1 PE1 -NX_O60476 73004 641 7.17 1 Golgi apparatus;Golgi apparatus membrane NA 1 PE1 -NX_O60477 88760 761 9.15 9 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_O60478 45599 399 8.95 1 Lysosome membrane NA 7 PE1 -NX_O60479 31738 287 8.98 17 Nucleus Amelogenesis imperfecta 4;Trichodentoosseous syndrome 0 PE1 -NX_O60481 50569 467 8.89 X Nucleoplasm;Nucleus;Cytoplasm VACTERL association X-linked with or without hydrocephalus;Heterotaxy, visceral, 1, X-linked;Congenital heart defects, multiple types, 1, X-linked 0 PE1 -NX_O60486 175742 1568 7.78 12 Mitochondrion;Membrane NA 1 PE1 -NX_O60487 24484 215 6.53 11 Cell junction;Membrane NA 1 PE1 -NX_O60488 79188 711 8.66 X Endoplasmic reticulum membrane;Microsome membrane;Peroxisome membrane;Mitochondrion outer membrane;Mitochondrion;Golgi apparatus Mental retardation, X-linked 63;Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis 1 PE1 -NX_O60493 18762 162 8.71 6 Cytoplasm;Phagosome;Early endosome Microphthalmia, syndromic, 8 0 PE1 -NX_O60494 398736 3623 5.14 10 Lysosome membrane;Apical cell membrane;Endosome;Coated pit;Cell membrane Recessive hereditary megaloblastic anemia 1 0 PE1 -NX_O60496 45379 412 5.78 8 NA NA 0 PE1 -NX_O60499 28114 249 4.81 19 Golgi apparatus;Golgi apparatus membrane NA 1 PE1 -NX_O60500 134742 1241 5.42 19 Cell membrane Nephrotic syndrome 1 1 PE1 -NX_O60502 102915 916 4.82 10 Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_O60503 150701 1353 7.07 16 Cytosol;Cell membrane NA 12 PE1 -NX_O60504 75341 671 9.48 8 Nucleus;Nucleoplasm;Focal adhesion;Cell junction;Cytoskeleton NA 0 PE1 -NX_O60506 69603 623 8.68 6 Cytoplasm;Microsome;Endoplasmic reticulum;Nucleoplasm;Cytosol;Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_O60507 42188 370 9.21 7 Golgi apparatus membrane;Cytosol NA 1 PE1 -NX_O60508 65521 579 6.62 6 Nucleus;Nucleus NA 0 PE1 -NX_O60512 43928 393 9.34 1 Golgi stack membrane;Golgi apparatus NA 1 PE1 -NX_O60513 40041 344 9.18 3 Golgi apparatus;Golgi stack membrane NA 1 PE1 -NX_O60516 10873 100 4.37 5 NA NA 0 PE1 -NX_O60518 124714 1105 4.88 9 Cytoplasm;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_O60519 13784 120 9.93 12 Cytosol;Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 -NX_O60522 236517 2096 5.14 6 Cytoplasm NA 0 PE1 -NX_O60524 122954 1076 5.97 14 Cytosol;Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_O60542 16600 156 9.54 19 Secreted NA 0 PE2 -NX_O60543 24687 219 9.34 18 Lipid droplet;Nucleus NA 0 PE1 -NX_O60547 41950 372 6.87 6 NA NA 0 PE1 -NX_O60548 48748 495 6.76 1 Nucleus NA 0 PE1 -NX_O60551 56980 498 7.23 10 Cell membrane;Cytosol;Golgi apparatus;Membrane;Cytoplasm NA 0 PE1 -NX_O60563 80685 726 8.9 12 Nucleus;Nucleoplasm NA 0 PE1 -NX_O60565 20697 184 9.53 15 Secreted Polyposis syndrome, mixed hereditary 1 0 PE1 -NX_O60566 119545 1050 5.2 15 Cytoplasm;Cytosol;Kinetochore;Nucleus;Centrosome;Cytoplasm Mosaic variegated aneuploidy syndrome 1;Premature chromatid separation trait 0 PE1 -NX_O60568 84785 738 5.69 7 Rough endoplasmic reticulum membrane Lysyl hydroxylase 3 deficiency 0 PE1 -NX_O60573 28362 245 8.97 2 Cytosol;Mitochondrion NA 0 PE1 -NX_O60575 9454 86 7.57 9 Golgi apparatus;Cytoplasmic vesicle;Nucleus;Secreted NA 0 PE1 -NX_O60583 81029 730 9.04 2 Cytosol;Nucleus;Perinuclear region;Nucleoplasm;Cell membrane NA 0 PE1 -NX_O60602 97834 858 6.21 1 Golgi apparatus;Membrane;Cytosol;Nucleus Systemic lupus erythematosus 1 1 PE1 -NX_O60603 89838 784 6.17 4 Mitochondrion;Nucleus;Membrane;Phagosome membrane;Membrane raft NA 1 PE1 -NX_O60609 44511 400 8.06 5 Cell membrane;Cell membrane;Cytosol NA 0 PE1 -NX_O60610 141347 1272 5.31 5 Cell membrane;Ruffle membrane;Cell membrane;Cytoskeleton;Centrosome;Spindle Deafness, autosomal dominant, 1;Seizures, cortical blindness, and microcephaly syndrome 0 PE1 -NX_O60613 17790 162 4.96 1 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum lumen;Nucleolus NA 0 PE1 -NX_O60635 26301 241 5.12 1 Nucleoplasm;Lysosome membrane;Cytoplasmic vesicle NA 4 PE1 -NX_O60636 24148 221 7.98 1 Nucleoplasm;Membrane NA 4 PE1 -NX_O60637 28018 253 5.52 15 Nucleoplasm;Golgi apparatus;Membrane NA 4 PE1 -NX_O60641 92502 907 4.69 6 Coated pit;Centrosome;Cytosol;Cell membrane NA 0 PE1 -NX_O60645 86845 756 5.8 5 Mitochondrion;Golgi apparatus;Nucleoplasm;Midbody;Growth cone;Perinuclear region;Cytoplasm NA 0 PE1 -NX_O60656 59941 530 8.08 2 Endoplasmic reticulum membrane;Microsome NA 1 PE1 -NX_O60658 93304 829 5.75 15 Golgi apparatus NA 0 PE1 -NX_O60662 68037 606 5.14 2 M line;Sarcoplasmic reticulum membrane;Nucleus;Cytoplasm;Ruffle;Cytosol;Cell membrane;Endoplasmic reticulum membrane;Cytoskeleton;Pseudopodium Nemaline myopathy 9 0 PE1 -NX_O60663 44917 402 6.22 9 Nucleus;Nucleus Nail-patella syndrome 0 PE1 -NX_O60664 47075 434 5.3 19 Cytoplasm;Lipid droplet;Cytosol;Endosome membrane;Lipid droplet NA 0 PE1 -NX_O60667 43146 390 9.78 1 Membrane;Secreted;Nucleus;Cytosol;Focal adhesion NA 1 PE1 -NX_O60669 52200 478 9.37 12 Nucleoplasm;Cell membrane;Cell membrane NA 12 PE1 -NX_O60671 31827 282 4.73 5 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_O60673 352776 3130 8.72 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_O60674 130674 1132 6.82 9 Endomembrane system;Focal adhesion;Nucleoplasm;Nucleus;Cytoplasm;Cell membrane Budd-Chiari syndrome;Polycythemia vera;Leukemia, acute myelogenous;Thrombocythemia 3;Myelofibrosis 0 PE1 -NX_O60675 17523 156 10.1 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_O60676 16275 142 9.05 20 Secreted NA 0 PE1 -NX_O60678 59876 531 5.18 11 Cytoplasm NA 0 PE1 -NX_O60682 22068 206 9.23 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_O60683 37069 326 10.03 1 Peroxisome membrane;Nucleoplasm Peroxisome biogenesis disorder 6A;Peroxisome biogenesis disorder 6B;Peroxisome biogenesis disorder complementation group 7 0 PE1 -NX_O60684 60030 536 4.89 1 Nucleoplasm;Cytosol NA 0 PE1 -NX_O60687 52972 465 7.05 X Cytoskeleton;Secreted;Cytoplasm;Cell surface;Synapse Rolandic epilepsy with speech dyspraxia and mental retardation X-linked 0 PE1 -NX_O60688 13575 119 8.21 22 Nucleus NA 0 PE2 -NX_O60701 55024 494 6.73 4 Nucleoplasm NA 0 PE1 -NX_O60704 41912 377 9.22 22 Endoplasmic reticulum;Golgi apparatus membrane NA 1 PE1 -NX_O60706 174223 1549 7.05 12 Cytosol;Membrane;Nucleoplasm Atrial fibrillation, familial, 12;Cardiomyopathy, dilated 1O;Hypertrichotic osteochondrodysplasia 15 PE1 -NX_O60711 43332 386 5.62 11 Nucleus speckle;Cytosol;Cytoplasm;Focal adhesion;Podosome;Cell membrane;Focal adhesion;Nucleus;Perinuclear region NA 0 PE1 -NX_O60716 108170 968 5.86 11 Cell membrane;Cell membrane;Cytoplasm;Nucleus NA 0 PE1 -NX_O60721 121374 1099 4.9 15 Cytoskeleton;Membrane Night blindness, congenital stationary, 1D 11 PE1 -NX_O60725 31938 284 8.13 1 Endoplasmic reticulum membrane NA 8 PE1 -NX_O60729 56802 498 9.19 9 Nucleoplasm;Nucleolus NA 0 PE1 -NX_O60732 123643 1142 4.23 X Cytosol;Nucleoplasm NA 0 PE1 -NX_O60733 89903 806 6.86 22 Membrane;Cytoplasm;Cytosol;Microtubule organizing center Neurodegeneration with brain iron accumulation 2B;Neurodegeneration with brain iron accumulation 2A;Parkinson disease 14 0 PE1 -NX_O60739 12824 113 6.82 3 NA NA 0 PE1 -NX_O60741 98796 890 8.63 5 Cell membrane Epileptic encephalopathy, early infantile, 24 6 PE1 -NX_O60749 58471 519 5.04 5 Lamellipodium;Early endosome membrane;Endosome;Lysosome NA 0 PE1 -NX_O60755 39573 368 10.23 22 Cell membrane NA 7 PE1 -NX_O60756 9784 84 10.67 9 NA NA 0 PE5 -NX_O60759 40010 359 6.55 2 Cytoplasm;Early endosome;Nucleoplasm;Cytosol NA 0 PE1 -NX_O60760 23344 199 5.54 4 Cytoplasm NA 0 PE1 -NX_O60762 29634 260 9.57 20 Endoplasmic reticulum Congenital disorder of glycosylation 1E 0 PE1 -NX_O60763 107895 962 4.85 4 Golgi apparatus;Cytosol;Golgi apparatus membrane;Nucleolus;Golgi apparatus NA 0 PE1 -NX_O60765 69237 605 9.65 5 Nucleolus;Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_O60774 61291 539 5.99 1 Microsome membrane;Endoplasmic reticulum membrane NA 1 PE5 -NX_O60779 55400 497 6.35 1 Cell membrane;Cytosol Thiamine-responsive megaloblastic anemia syndrome 12 PE1 -NX_O60783 15139 128 11.42 1 Mitochondrion;Mitochondrion;Nucleus membrane NA 0 PE1 -NX_O60784 53818 492 4.59 22 Microtubule organizing center;Cell membrane;Membrane;Cytoplasm;Cytosol NA 0 PE1 -NX_O60806 48238 448 6.66 1 Nucleus;Nucleus speckle ACTH deficiency, isolated 0 PE1 -NX_O60809 55211 474 8.71 1 NA NA 0 PE2 -NX_O60810 55439 478 8.69 1 NA NA 0 PE2 -NX_O60811 54872 474 8.12 1 NA NA 0 PE2 -NX_O60812 32142 293 4.93 1 Nucleus NA 0 PE1 -NX_O60813 50598 436 8.83 1 NA NA 0 PE2 -NX_O60814 13890 126 10.31 6 Nucleus;Chromosome NA 0 PE1 -NX_O60825 58477 505 8.61 1 Nucleus NA 0 PE1 -NX_O60826 70756 627 6.3 X Cytosol;Nucleoplasm;Endosome Ritscher-Schinzel syndrome 2 0 PE1 -NX_O60828 30472 265 5.92 X Nucleus;Nucleus speckle;Nucleus speckle;Cytoplasmic granule Renpenning syndrome 1 0 PE1 -NX_O60829 11153 102 4.71 X Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_O60830 18273 172 9.21 X Cytoskeleton;Mitochondrion inner membrane;Mitochondrion NA 3 PE1 -NX_O60831 19258 178 9.41 X Endosome membrane;Endoplasmic reticulum;Cytoplasmic vesicle NA 4 PE1 -NX_O60832 57674 514 9.46 X Nucleus;Nucleus;Nucleolus;Cytoplasm;Cajal body;Nucleolus Dyskeratosis congenita, X-linked;Hoyeraal-Hreidarsson syndrome 0 PE1 -NX_O60840 220678 1977 5.76 X Membrane Cone-rod dystrophy, X-linked 3;Night blindness, congenital stationary, 2A;Aaland island eye disease 24 PE1 -NX_O60841 138827 1220 5.39 2 Cytoplasm;Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_O60844 18147 167 9.43 16 Extracellular matrix;Cytoplasmic vesicle lumen;Golgi apparatus lumen NA 0 PE1 -NX_O60858 46988 407 5.75 13 Endoplasmic reticulum membrane NA 1 PE1 -NX_O60861 54371 476 6.91 17 Focal adhesion;Cytoskeleton;Cytoplasm;Cell membrane NA 0 PE1 -NX_O60869 16369 148 9.95 9 Cytosol;Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_O60870 45374 393 9.07 10 Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_O60879 125569 1101 6.2 X Cytoplasmic vesicle;Endoplasmic reticulum;Early endosome;Cytosol;Nucleolus Premature ovarian failure 2A 0 PE1 -NX_O60880 14187 128 8.74 X Cytoplasm Lymphoproliferative syndrome, X-linked, 1 0 PE1 -NX_O60882 54387 483 8.92 11 Extracellular matrix Amelogenesis imperfecta, hypomaturation type, 2A2 0 PE1 -NX_O60883 52771 481 7.37 1 Cell membrane NA 7 PE1 -NX_O60884 45746 412 6.06 16 Nucleolus;Membrane;Cytoskeleton;Cytosol NA 0 PE1 -NX_O60885 152219 1362 9.23 19 Nucleoplasm;Chromosome;Nucleus NA 0 PE1 -NX_O60888 19116 179 5.42 6 Focal adhesion;Cell membrane NA 0 PE1 -NX_O60890 91641 802 8.08 X Dendrite;Cell membrane;Cytoplasm;Dendritic spine;Synapse;Nucleus;Axon Mental retardation, X-linked, syndromic, OPHN1-related 0 PE1 -NX_O60894 16988 148 8.55 2 Nucleoplasm;Nucleus membrane;Membrane NA 1 PE1 -NX_O60895 19608 175 5.49 17 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_O60896 16518 148 5.32 7 Cell membrane;Membrane NA 1 PE1 -NX_O60902 34953 331 8.99 3 Nucleus NA 0 PE1 -NX_O60906 47646 423 6.49 6 Cytoplasmic vesicle;Cell membrane;Cell junction;Membrane NA 2 PE1 -NX_O60907 62496 577 6.08 X Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_O60909 41972 372 9.47 1 Cytoplasmic vesicle;Golgi apparatus;Golgi stack membrane NA 1 PE1 -NX_O60911 37329 334 8.98 9 Cytosol;Nucleolus;Lysosome;Nucleus;Cell membrane NA 0 PE1 -NX_O60921 31691 280 6.37 7 Cytosol;Nucleus NA 0 PE1 -NX_O60925 14210 122 6.32 5 Cytoplasm;Cytosol;Nucleolus;Cell membrane NA 0 PE1 -NX_O60927 13952 126 6.52 6 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_O60928 40530 360 5.84 2 Membrane Leber congenital amaurosis 16;Snowflake vitreoretinal degeneration 2 PE1 -NX_O60930 32064 286 9.28 2 Cytoplasm Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 0 PE1 -NX_O60931 41738 367 9.12 17 Cytoplasmic vesicle;Cell membrane;Lysosome membrane;Melanosome;Cytoskeleton Cystinosis, nephropathic type;Cystinosis, adult, non-nephropathic type;Cystinosis, late-onset juvenile or adolescent nephropathic type 7 PE1 -NX_O60934 84959 754 6.5 8 Nucleoplasm;Golgi apparatus;Nucleus;Telomere;PML body Breast cancer;Aplastic anemia;Nijmegen breakage syndrome 0 PE1 -NX_O60936 22629 208 4.11 16 Cytosol;Nucleus;Cytoplasm;Sarcoplasmic reticulum;Membrane;Mitochondrion;Nucleolus Myoclonus, familial cortical 0 PE1 -NX_O60938 40509 352 7.11 12 Extracellular matrix Cornea plana 2, autosomal recessive 0 PE1 -NX_O60939 24326 215 5.98 11 Membrane Atrial fibrillation, familial, 14 1 PE1 -NX_O60941 71356 627 8.11 2 Mitochondrion;Cytoplasm NA 0 PE1 -NX_O60942 68557 597 8.43 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_O71037 79252 699 9.2 19 Cell membrane;Cell membrane;Virion NA 1 PE1 -NX_O75015 26216 233 6.22 1 Cell membrane;Secreted NA 0 PE1 -NX_O75019 53275 489 7.97 19 Membrane NA 1 PE2 -NX_O75022 69386 631 6.45 19 Cell membrane NA 1 PE1 -NX_O75023 64126 590 6.92 19 Membrane NA 1 PE1 -NX_O75027 82641 752 9.37 X Mitochondrion inner membrane;Mitochondrion Anemia, sideroblastic, spinocerebellar ataxia 6 PE1 -NX_O75030 58795 526 5.93 3 Nucleus Waardenburg syndrome 2, with ocular albinism, autosomal recessive;Waardenburg syndrome 2A;Tietz albinism-deafness syndrome;Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;Melanoma, cutaneous malignant 8 0 PE1 -NX_O75031 37645 334 5.43 21 Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_O75037 182662 1637 6.7 1 Cytoskeleton;Dendrite;Growth cone;Axon;Cytoplasmic vesicle NA 0 PE1 -NX_O75038 154668 1416 8.04 1 Cell membrane;Cytoplasm NA 0 PE1 -NX_O75044 120881 1071 6.25 1 Nucleoplasm;Cytosol;Cell membrane;Dendritic spine;Postsynaptic density;Postsynaptic cell membrane;Lamellipodium;Phagosome;Nucleus;Cytoplasm NA 0 PE1 -NX_O75051 211104 1894 6.05 1 Cell membrane NA 1 PE1 -NX_O75052 56150 506 5.89 1 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_O75054 135196 1194 5.75 1 Nucleoplasm;Membrane;Cytosol Lacrimal duct defect 1 PE1 -NX_O75056 45497 442 4.61 1 Mitochondrion;Membrane;Nucleoplasm NA 1 PE1 -NX_O75061 99997 913 6.82 1 Cell membrane;Cytosol;Nucleoplasm Parkinson disease 19B, early-onset;Parkinson disease 19A, juvenile-onset 0 PE1 -NX_O75063 46432 409 6.4 1 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_O75064 163847 1496 6.85 1 Nucleus;Golgi apparatus;Golgi apparatus NA 0 PE1 -NX_O75069 77449 709 6.34 1 Membrane;Endoplasmic reticulum NA 2 PE1 -NX_O75071 55031 495 5.98 1 Nucleolus;Golgi apparatus;Cytosol NA 0 PE1 -NX_O75072 53724 461 8.63 9 Golgi apparatus membrane Cardiomyopathy, dilated 1X;Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4;Muscular dystrophy-dystroglycanopathy limb-girdle C4;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 1 PE1 -NX_O75074 82884 770 5.83 19 Membrane;Coated pit NA 1 PE1 -NX_O75077 91926 832 7.85 2 Cell membrane;Secreted NA 1 PE1 -NX_O75078 83418 769 6.91 17 Membrane NA 1 PE1 -NX_O75081 71192 653 8.5 16 Nucleoplasm;Nucleolus;Golgi apparatus membrane;Nucleoplasm NA 0 PE1 -NX_O75083 66194 606 6.17 4 Cytoplasm;Cytosol;Cell junction;Podosome;Cytoskeleton NA 0 PE1 -NX_O75084 63620 574 8.12 2 Cell membrane;Nucleoplasm;Cell membrane;Endosome membrane NA 7 PE1 -NX_O75093 167926 1534 6.14 10 Secreted NA 0 PE1 -NX_O75094 167713 1523 7.99 5 Cell junction;Secreted NA 0 PE1 -NX_O75095 161185 1541 5.94 1 Cytoplasm;Cytoskeleton;Secreted;Cytoskeleton NA 0 PE1 -NX_O75096 212045 1905 5.06 11 Mitochondrion;Cell membrane;Nucleus;Nucleolus Myasthenic syndrome, congenital, 17;Cenani-Lenz syndactyly syndrome;Sclerosteosis 2 1 PE1 -NX_O75106 83673 756 6.54 17 Cell membrane;Cytoplasm NA 0 PE1 -NX_O75110 118583 1047 8.01 20 Early endosome membrane;Recycling endosome;trans-Golgi network membrane NA 10 PE1 -NX_O75112 77135 727 8.47 10 Cytosol;Focal adhesion;Pseudopodium;Nucleoplasm;Cytoskeleton;Z line;Perinuclear region Left ventricular non-compaction 3;Cardiomyopathy, dilated 1C, with or without left ventricular non-compaction;Myopathy, myofibrillar, 4 0 PE1 -NX_O75113 100379 896 5.24 16 Nucleolus;Nucleolus;PML body NA 0 PE1 -NX_O75116 160900 1388 5.75 2 Cytoplasm;Cytosol;Cell membrane;Nucleus;Centrosome NA 0 PE1 -NX_O75121 45380 409 5.13 4 Cell membrane;Cell membrane;Nucleus;Cytoplasm NA 1 PE1 -NX_O75122 141133 1294 8.68 3 Cytosol;Golgi apparatus;Centrosome;Kinetochore;Spindle;Golgi apparatus;trans-Golgi network;Cell membrane;Ruffle membrane;Cytoskeleton NA 0 PE1 -NX_O75123 61392 536 8.52 8 Nucleus;Nucleus NA 0 PE1 -NX_O75127 78856 700 8.81 7 Mitochondrion;Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_O75128 135617 1261 7.66 7 Ruffle;Cytoskeleton;Cytoplasm;Cell junction;Cell membrane;Cell membrane NA 0 PE1 -NX_O75129 148243 1339 5.66 9 Nucleoplasm;Cytosol;Membrane;Perikaryon;Cell cortex;Early endosome;Late endosome;Clathrin-coated vesicle;Cytoplasmic vesicle NA 2 PE1 -NX_O75131 60131 537 5.6 8 Cytosol;Mitochondrion;Nucleus;Cytoplasm;Cell membrane;Cell junction;Focal adhesion;Nucleus;Nucleolus NA 0 PE1 -NX_O75132 130322 1171 6.38 22 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_O75140 181264 1603 6.27 22 Cytosol;Golgi apparatus;Lysosome membrane;Perinuclear region Epilepsy, familial focal, with variable foci 1 0 PE1 -NX_O75143 56572 517 4.98 11 Nucleoplasm;Cell membrane;Cytosol;Cytosol;Preautophagosomal structure NA 0 PE1 -NX_O75144 33349 302 5.15 21 Cell membrane;Mitochondrion NA 1 PE1 -NX_O75145 133496 1194 5.53 19 Nucleolus;Acrosome;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_O75146 119388 1068 6.22 12 Cytosol;Clathrin-coated vesicle membrane;Cell membrane;Cytoplasmic vesicle;Perinuclear region;Endomembrane system NA 0 PE1 -NX_O75147 206947 1896 5.42 2 Centrosome;Cytoplasm;Centrosome;Perinuclear region;Golgi apparatus 3M syndrome 2 0 PE1 -NX_O75150 113650 1001 5.93 16 Nucleus;Nucleoplasm NA 0 PE1 -NX_O75151 120775 1096 9.25 9 Nucleus;Kinetochore;Nucleolus;Cytosol;Nucleolus NA 0 PE1 -NX_O75152 89131 810 8.62 1 Nucleus speckle NA 0 PE1 -NX_O75153 146670 1309 5.75 17 Cytoplasm;Cytoplasmic granule;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_O75154 82440 756 4.44 16 Microtubule organizing center;Recycling endosome membrane;Centrosome;Cleavage furrow;Midbody;Cytoskeleton;Cytoplasmic vesicle NA 0 PE1 -NX_O75155 135256 1236 5.44 3 Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_O75157 79228 780 4.9 3 Cytosol NA 0 PE1 -NX_O75159 61246 536 8.87 2 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_O75161 157598 1426 8.4 1 Cilium basal body;Centrosome;Tight junction;Nucleus Senior-Loken syndrome 4;Nephronophthisis 4 0 PE1 -NX_O75164 120662 1064 5.61 1 Nucleus;Nucleolus NA 0 PE1 -NX_O75165 254415 2243 6.31 3 Early endosome membrane;Cytoplasmic vesicle;Early endosome;Endosome membrane;Cytosol Parkinson disease 0 PE1 -NX_O75167 69700 634 8.14 6 Membrane NA 0 PE1 -NX_O75170 104942 966 4.74 22 Cytoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_O75173 90197 837 8.18 1 Nucleus speckle;Extracellular matrix NA 0 PE1 -NX_O75175 81872 753 5.82 19 Cytosol;P-body;Nucleus;Cytoplasm NA 0 PE1 -NX_O75177 42990 396 5.96 20 Nucleoplasm;Cytosol;Nucleus;Kinetochore NA 0 PE1 -NX_O75179 274258 2603 6.07 4 Nucleus membrane;Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_O75182 133066 1162 6.48 19 Cell membrane;Nucleoplasm;Nucleus NA 0 PE1 -NX_O75185 103187 946 5.53 16 Cell membrane;Focal adhesion;Membrane NA 10 PE1 -NX_O75190 36087 326 9.17 7 Nucleus;Cytoplasm;Nucleoplasm;Perinuclear region;Nucleus;Z line Limb-girdle muscular dystrophy 1E 0 PE1 -NX_O75191 58382 536 5.55 3 Nucleus speckle NA 0 PE1 -NX_O75192 28353 247 9.68 15 Peroxisome membrane NA 2 PE1 -NX_O75197 179145 1615 5.11 11 Endoplasmic reticulum;Membrane Vitreoretinopathy, exudative 1;Osteopetrosis, autosomal dominant 1;Vitreoretinopathy, exudative 4;High bone mass trait;Van Buchem disease 2;Osteoporosis-pseudoglioma syndrome;Osteoporosis;Endosteal hyperostosis, Worth type 1 PE1 -NX_O75200 47714 414 10.35 16 Secreted NA 0 PE2 -NX_O75204 25842 238 6.23 2 Cell membrane;Cytoplasm Pheochromocytoma 3 PE1 -NX_O75208 35509 318 5.61 16 Cytosol;Mitochondrion Coenzyme Q10 deficiency, primary, 5 0 PE1 -NX_O75223 21008 188 5.07 7 Cell membrane;Cytoplasm NA 0 PE1 -NX_O75251 23564 213 10.02 19 Mitochondrion Leigh syndrome;Mitochondrial complex I deficiency 0 PE1 -NX_O75264 14964 130 5.25 19 Nucleoplasm;Cytosol;Membrane NA 1 PE1 -NX_O75290 74531 641 8.96 19 Nucleus NA 0 PE1 -NX_O75293 17818 160 4.33 19 Nucleoplasm;Cytosol NA 0 PE1 -NX_O75298 59264 545 5.19 19 Endoplasmic reticulum membrane;Nucleus speckle Spastic paraplegia 12, autosomal dominant 2 PE1 -NX_O75306 52546 463 7.21 1 Mitochondrion inner membrane;Mitochondrion;Nucleoplasm Mitochondrial complex I deficiency 0 PE1 -NX_O75309 89923 829 4.82 16 Cell membrane NA 1 PE1 -NX_O75310 61038 529 9.06 4 Microsome membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_O75311 53800 464 8.6 4 Perikaryon;Dendrite;Postsynaptic cell membrane;Synapse;Cell membrane NA 4 PE1 -NX_O75312 50925 459 4.66 11 Nucleus;Growth cone;Axon;Nucleolus;Gem;Cajal body;Perinuclear region;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_O75317 42858 370 6.16 13 NA NA 0 PE1 -NX_O75319 38939 330 9.47 2 Cytoskeleton;Nucleus;Nucleolus;Nucleus;Nucleus speckle NA 0 PE1 -NX_O75323 33743 286 9.42 7 Cytoplasm;Mitochondrion outer membrane;Mitochondrion NA 0 PE1 -NX_O75324 9497 88 5.19 16 Cytosol;Mitochondrion outer membrane NA 1 PE1 -NX_O75325 78859 713 7.06 1 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_O75326 74824 666 7.57 15 Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_O75330 84100 724 5.68 5 Cytosol;Cell surface;Cytoplasm;Cytoskeleton;Centrosome NA 0 PE1 -NX_O75333 42341 385 9.33 11 Nucleus NA 0 PE2 -NX_O75334 143291 1257 5.8 12 Cytoplasm;Cell surface NA 0 PE1 -NX_O75335 134404 1185 6.28 1 Cytoplasm;Cell surface NA 0 PE1 -NX_O75339 132565 1184 8.76 15 Extracellular matrix Intervertebral disc disease 0 PE1 -NX_O75340 21868 191 5.16 5 Cytosol;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Cytoplasm;Nucleus;Endosome NA 0 PE1 -NX_O75342 80356 701 7.57 17 Cytoplasm;Cytosol Ichthyosis, congenital, autosomal recessive 2 0 PE1 -NX_O75343 70368 617 8.84 13 Cytoplasm NA 0 PE5 -NX_O75344 37214 327 6.48 7 Nucleus;Chromosome;Cytosol NA 0 PE1 -NX_O75346 57602 499 9.32 19 Nucleus NA 0 PE2 -NX_O75347 12855 108 5.25 5 Cytoplasm;Cytoskeleton;Nucleolus;Cytoskeleton NA 0 PE1 -NX_O75348 13758 118 8.93 9 Nucleolus;Nucleus NA 0 PE1 -NX_O75351 49302 444 6.75 18 Prevacuolar compartment membrane;Late endosome membrane;Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 -NX_O75352 26638 247 9.13 17 Membrane;Endoplasmic reticulum;Mitochondrion Congenital disorder of glycosylation 1F 7 PE1 -NX_O75354 53246 484 9.32 20 Golgi apparatus;Golgi apparatus;Golgi apparatus membrane;Secreted NA 1 PE1 -NX_O75355 59105 529 5.98 3 Cytosol;Membrane NA 2 PE1 -NX_O75356 47517 428 5.92 14 Endoplasmic reticulum;Cytosol;Secreted NA 0 PE1 -NX_O75360 24984 226 10.36 5 Nucleus Pituitary hormone deficiency, combined, 2 0 PE1 -NX_O75362 115272 1048 8.78 20 Nucleus speckle;Nucleus NA 0 PE1 -NX_O75363 61709 584 4.99 20 Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_O75364 31832 302 9.28 10 Nucleus Cataract 11, multiple types;Anterior segment dysgenesis 1 0 PE1 -NX_O75365 19535 173 9.35 8 Cell membrane;Early endosome NA 0 PE1 -NX_O75366 92027 819 5.47 12 Cytoskeleton;Cell projection;Axon NA 0 PE1 -NX_O75367 39617 372 9.8 5 Chromosome;Nucleus;Nucleus NA 0 PE1 -NX_O75368 12774 114 5.22 X Cytoplasmic vesicle NA 0 PE1 -NX_O75369 278164 2602 5.47 3 Cell membrane;Golgi apparatus;Cytosol;Cytoskeleton;Cytoskeleton;Cell cortex;Z line Spondylocarpotarsal synostosis syndrome;Boomerang dysplasia;Larsen syndrome;Atelosteogenesis 1;Atelosteogenesis 3 0 PE1 -NX_O75373 61931 536 9.41 19 Nucleus NA 0 PE2 -NX_O75376 270210 2440 6.66 17 Nucleus NA 0 PE1 -NX_O75379 16397 141 6.75 1 Golgi apparatus;trans-Golgi network membrane NA 1 PE1 -NX_O75380 13712 124 8.58 5 Mitochondrion inner membrane Mitochondrial complex I deficiency 0 PE1 -NX_O75381 41237 377 4.89 1 Nucleolus;Peroxisome membrane;Peroxisome Peroxisome biogenesis disorder 13A;Peroxisome biogenesis disorder complementation group K 0 PE1 -NX_O75382 80830 744 8.03 11 Mitochondrion;Cytoplasm;Early endosome;trans-Golgi network;Dendrite NA 0 PE1 -NX_O75385 112631 1050 9.03 12 Preautophagosomal structure;Cytosol;Cytosol NA 0 PE1 -NX_O75386 49642 442 7.63 12 Nucleolus;Nucleus;Cell membrane;Nucleus;Cell membrane;Cilium;Cytoplasm;Secreted NA 0 PE1 -NX_O75387 61477 559 7.85 11 Golgi apparatus;Cytoplasmic vesicle;Membrane;Cell membrane NA 12 PE1 -NX_O75388 40087 356 9.35 19 Cell membrane NA 7 PE2 -NX_O75390 51712 466 8.45 12 Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_O75391 26034 227 7.69 17 Nucleus;Nucleus NA 0 PE1 -NX_O75394 7619 65 10.81 2 Mitochondrion NA 0 PE1 -NX_O75396 24593 215 6.43 1 trans-Golgi network membrane;Melanosome;Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;cis-Golgi network membrane NA 1 PE1 -NX_O75398 59327 565 5.21 11 Cytoplasm;Nucleolus;Nucleus;Secreted;Nucleus Mental retardation, autosomal dominant 24;Dyskinesia, seizures, and intellectual developmental disorder 0 PE1 -NX_O75400 108805 957 7.18 2 Nucleus;Nucleus speckle;Nucleus matrix;Nucleus speckle NA 0 PE1 -NX_O75409 13442 117 4.93 X NA NA 0 PE1 -NX_O75410 87794 805 4.82 8 Cytoplasm;Nucleus;Centrosome;Midbody;Membrane;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_O75414 21142 186 8.51 3 Cytoplasmic vesicle NA 0 PE1 -NX_O75417 289619 2590 7.07 3 Nucleus;Nucleus;Chromosome;Cytosol;Golgi apparatus Breast cancer 0 PE1 -NX_O75419 65569 566 5.31 22 Nucleoplasm;Cytosol;Centrosome;Nucleus;Cytoplasm NA 0 PE1 -NX_O75420 114601 1035 5.29 7 Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 -NX_O75425 25519 235 9.29 7 Nucleoplasm;Cytosol;Membrane NA 2 PE1 -NX_O75426 64889 580 9.01 7 NA NA 0 PE1 -NX_O75427 73450 683 8.55 7 Nucleoplasm;Focal adhesion;Cytosol NA 0 PE1 -NX_O75431 29763 263 5.9 2 Mitochondrion outer membrane;Mitochondrion;Mitochondrion;Nucleolus NA 0 PE1 -NX_O75436 38170 327 6.13 10 Golgi apparatus;Cytoplasm;Cell membrane;Endosome;Lysosome;Cytoplasm;Endosome membrane;Early endosome NA 0 PE1 -NX_O75437 77160 659 9.4 19 Nucleus NA 0 PE1 -NX_O75438 6961 58 9.03 14 Cytoplasm;Nucleus speckle;Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_O75439 54366 489 6.38 7 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_O75443 239527 2155 5.23 11 Cell membrane;Extracellular matrix Deafness, autosomal recessive, 21;Deafness, autosomal dominant, 12 0 PE1 -NX_O75444 38492 373 6.44 16 Nucleus Cataract 21, multiple types;Ayme-Gripp syndrome 0 PE1 -NX_O75445 575600 5202 6.4 1 Stereocilium membrane;Secreted Retinitis pigmentosa 39;Usher syndrome 2A 1 PE1 -NX_O75446 23306 220 9.28 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_O75448 110305 989 6.51 17 Nucleus NA 0 PE1 -NX_O75449 55965 491 6.47 6 Cytoplasm;Cell membrane;Midbody;Centrosome;Spindle pole;Cytoplasm;Microtubule organizing center;Nucleus;Spindle NA 0 PE1 -NX_O75452 35673 317 8.83 12 Microsome membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_O75459 16150 146 4.15 X Nucleolus;Nucleus;Mitochondrion NA 0 PE1 -NX_O75460 109735 977 5.98 17 Endoplasmic reticulum membrane NA 1 PE1 -NX_O75461 31844 281 5.35 2 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_O75462 46302 422 9.3 19 Secreted Cold-induced sweating syndrome 1 0 PE1 -NX_O75467 61104 553 9.69 19 Nucleus membrane;Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_O75469 49762 434 8.7 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_O75473 99998 907 6.12 12 Cell membrane;trans-Golgi network membrane NA 7 PE1 -NX_O75474 24051 233 5.4 10 Nucleus;Mitochondrion NA 0 PE2 -NX_O75475 60103 530 9.15 9 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_O75477 38926 346 7.67 10 Endoplasmic reticulum;Endoplasmic reticulum membrane Spastic paraplegia 62, autosomal recessive 1 PE1 -NX_O75478 51506 443 6.45 17 Nucleus;Nucleus speckle;Chromosome NA 0 PE1 -NX_O75486 44362 399 8.69 6 Nucleus;Nucleoplasm NA 0 PE1 -NX_O75487 62412 556 6.26 X Extracellular space;Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_O75489 30242 264 6.98 11 Mitochondrion;Mitochondrion inner membrane;Nucleus NA 0 PE1 -NX_O75493 36238 328 9.78 19 Cytoskeleton;Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_O75494 31301 262 11.26 1 Nucleoplasm;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_O75496 23565 209 4.93 6 Cytoplasm;Nucleus;Nucleoplasm;Nucleus Meier-Gorlin syndrome 6 0 PE1 -NX_O75503 41497 358 7.04 13 Membrane;Lysosome Ceroid lipofuscinosis, neuronal, 5 1 PE1 -NX_O75506 8544 76 4.17 16 Nucleus NA 0 PE1 -NX_O75508 21993 207 8.22 3 Tight junction;Cell membrane NA 4 PE1 -NX_O75509 71845 655 8.09 6 Cell membrane NA 1 PE1 -NX_O75521 43585 394 9.13 6 Peroxisome;Peroxisome;Mitochondrion;Peroxisome matrix NA 0 PE1 -NX_O75525 38800 346 7.04 8 Nucleus;Nucleoplasm NA 0 PE1 -NX_O75526 42814 392 10.33 11 Nucleus NA 0 PE1 -NX_O75528 48902 432 5.9 3 Nucleus;Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_O75529 66155 589 5.55 1 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_O75530 50198 441 6.57 11 Nucleus;Nucleoplasm;Nucleus;Chromosome Cohen-Gibson syndrome 0 PE1 -NX_O75531 10059 89 5.81 11 Nucleoplasm;Cytosol;Nucleus;Cytoplasm;Chromosome;Nucleus envelope Nestor-Guillermo progeria syndrome 0 PE1 -NX_O75533 145830 1304 6.65 2 Nucleus;Nucleus speckle;Nucleus;Nucleus speckle NA 0 PE1 -NX_O75534 88885 798 5.88 1 Cytosol;Cytoplasm;Cytoplasm NA 0 PE1 -NX_O75541 46794 412 6.14 16 Nucleus speckle;Nucleus;Nucleoplasm NA 0 PE1 -NX_O75553 63775 588 4.88 1 Cytoplasmic vesicle Spinocerebellar ataxia 37 0 PE1 -NX_O75554 42507 376 5.45 13 Cell membrane;Nucleoplasm;Cytoplasmic vesicle;Nucleus speckle NA 0 PE1 -NX_O75556 10884 95 5.48 11 NA NA 0 PE1 -NX_O75558 33196 287 6.11 6 Membrane;trans-Golgi network membrane;Nucleus;Mitochondrion Familial hemophagocytic lymphohistiocytosis 4 0 PE1 -NX_O75563 41217 359 4.54 7 Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_O75564 57402 520 8.42 8 Nucleus;Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_O75569 34404 313 8.68 2 Cytoplasm;Cytosol;Nucleoplasm;Cytoplasm;Perinuclear region Dystonia 16 0 PE1 -NX_O75570 52306 445 8.75 13 Mitochondrion NA 0 PE1 -NX_O75575 16871 148 5.29 7 Nucleus;Nucleus;Cell membrane NA 0 PE1 -NX_O75578 127602 1167 6.21 1 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_O75581 180429 1613 5.12 12 Endoplasmic reticulum;Cell membrane;Membrane raft Coronary artery disease, autosomal dominant, 2;Tooth agenesis, selective, 7 1 PE1 -NX_O75582 89865 802 6.63 14 Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_O75586 28425 246 8.71 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_O75592 510084 4640 6.63 13 Nucleus;Cytosol NA 0 PE1 -NX_O75593 39257 365 9.6 8 Nucleus NA 0 PE1 -NX_O75594 21731 196 8.92 19 Secreted;Cytoplasmic granule NA 0 PE1 -NX_O75596 22233 197 9.07 16 Secreted NA 0 PE1 -NX_O75600 45285 419 8.3 22 Mitochondrion;Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_O75602 55476 509 6.37 10 Flagellum;Cytoskeleton;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_O75603 56610 506 7.14 6 Nucleus Hyperparathyroidism 4;Hypoparathyroidism, familial isolated 0 PE1 -NX_O75604 68072 605 9.15 11 Perinuclear region;Cytoplasm;Nucleus;Cell membrane;Cytosol;Membrane NA 0 PE1 -NX_O75607 19344 178 4.55 10 Cytosol;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 -NX_O75608 24670 230 6.29 8 Cytoplasm NA 0 PE1 -NX_O75610 40880 366 8.6 1 Secreted NA 0 PE1 -NX_O75616 48350 437 9.05 17 Cytosol;Mitochondrion inner membrane;Mitochondrion matrix;Mitochondrion Perrault syndrome 6 0 PE1 -NX_O75618 36794 318 9.07 1 Nucleus;Cytoplasm;Nucleolus NA 0 PE1 -NX_O75626 91771 825 8.76 6 Nucleus;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 -NX_O75628 32947 298 9.02 20 NA NA 0 PE1 -NX_O75629 24075 220 7.06 1 Cytoplasmic vesicle;Cytoskeleton;Secreted NA 0 PE1 -NX_O75631 30670 287 4.69 22 Nucleus membrane;Nucleus;Endoplasmic reticulum membrane NA 1 PE1 -NX_O75635 42905 380 6.34 18 Endoplasmic reticulum;Mitochondrion;Cytoplasm Keratoderma, palmoplantar, Nagashima type 0 PE1 -NX_O75636 32903 299 6.2 1 Secreted Ficolin 3 deficiency 0 PE1 -NX_O75638 21061 210 10.02 X Centrosome NA 0 PE1 -NX_O75643 244508 2136 5.73 2 Nucleus;Nucleoplasm Retinitis pigmentosa 33 0 PE1 -NX_O75648 47745 421 8.24 22 Mitochondrion;Nucleoplasm;Mitochondrion Liver failure, infantile, transient 0 PE1 -NX_O75663 31444 272 5.6 1 Cytosol;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_O75665 116671 1012 5.82 X Centriole;Cytoskeleton;Cilium basal body;Nucleus;Centriolar satellite Retinitis pigmentosa 23;Joubert syndrome 10;Simpson-Golabi-Behmel syndrome 2;Orofaciodigital syndrome 1 0 PE1 -NX_O75674 52989 476 5.11 17 Golgi stack;Endosome membrane;Cytoplasm;Membrane NA 0 PE1 -NX_O75676 85606 772 8.51 11 Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_O75677 35491 317 7.49 22 NA NA 0 PE2 -NX_O75678 42077 378 8.08 22 NA NA 0 PE2 -NX_O75679 35386 317 7.43 22 Cytoplasm;Nucleus NA 0 PE1 -NX_O75683 41450 361 10.65 9 Nucleolus;Nucleolus;Nucleoplasm;Nucleus NA 0 PE1 -NX_O75688 52643 479 4.95 2 Cytosol;Membrane;Cytosol;Nucleolus NA 0 PE1 -NX_O75689 43395 374 9.1 7 Cell membrane;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_O75690 17519 187 8.24 11 NA NA 0 PE1 -NX_O75691 318385 2785 7.07 12 Nucleolus;Cell membrane;Nucleolus NA 0 PE1 -NX_O75694 155199 1391 5.78 5 Nucleus membrane;Nuclear pore complex;Nucleus membrane;Nucleus membrane Atrial fibrillation, familial, 15 0 PE1 -NX_O75695 39641 350 5 X Cell membrane;Cilium;Cell membrane;Nucleus;Nucleoplasm Retinitis pigmentosa 2 0 PE1 -NX_O75711 11081 98 6.23 4 Secreted NA 0 PE1 -NX_O75712 30818 270 8.94 1 Cell junction;Cytoplasmic vesicle;Cell membrane;Gap junction Erythrokeratodermia variabilis;Deafness, autosomal dominant, 2B 4 PE1 -NX_O75715 25202 221 8.83 6 Secreted NA 0 PE1 -NX_O75716 34656 305 6.42 2 Membrane;Perinuclear region;Cytosol NA 0 PE1 -NX_O75717 125967 1129 5.42 14 Nucleoplasm;Nucleoplasm NA 0 PE1 -NX_O75718 46562 401 5.5 3 Cytosol;Cytoskeleton;Extracellular matrix;Cytoskeleton Osteogenesis imperfecta 7 0 PE1 -NX_O75746 74762 678 8.57 2 Mitochondrion inner membrane Epileptic encephalopathy, early infantile, 39 6 PE1 -NX_O75747 165715 1445 6.46 12 Membrane NA 0 PE1 -NX_O75751 61280 556 8.92 6 Cytoplasmic vesicle;Cytosol;Nucleoplasm;Membrane NA 7 PE1 -NX_O75752 39512 331 7.67 3 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 -NX_O75762 127501 1119 6.69 8 Cell membrane Episodic pain syndrome, familial, 1 6 PE1 -NX_O75764 38972 348 9.32 1 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_O75771 35049 328 5.89 17 Telomere;Nucleus;Centrosome Breast-ovarian cancer, familial, 4 0 PE1 -NX_O75781 42076 387 4.94 19 Nucleus;Axon;Dendrite;Filopodium membrane;Dendritic spine;Basolateral cell membrane;Apicolateral cell membrane;Cell membrane;Cell membrane NA 0 PE1 -NX_O75783 48314 438 8.04 16 Nucleoplasm;Membrane NA 7 PE1 -NX_O75787 39008 350 5.76 X Membrane Parkinsonism with spasticity, X-linked;Mental retardation, X-linked, with epilepsy 1 PE1 -NX_O75791 37909 330 6.44 22 Nucleus;Cytoplasm;Endosome NA 0 PE1 -NX_O75792 33395 299 5.14 19 Nucleus;Cytosol;Nucleus Aicardi-Goutieres syndrome 4 0 PE1 -NX_O75794 39135 336 4.64 10 Nucleoplasm;Cytosol;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_O75795 61095 530 8.76 4 Microsome membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_O75800 50344 440 5.81 3 Cytoplasm;Cytoplasm;Centriolar satellite;Cytosol;Cell membrane Ciliary dyskinesia, primary, 22 0 PE1 -NX_O75807 73478 674 4.55 19 Mitochondrion outer membrane;Endoplasmic reticulum membrane;Cytoplasmic vesicle NA 0 PE1 -NX_O75808 117314 1086 6.27 16 Nucleus NA 0 PE1 -NX_O75815 92566 825 8.19 1 Centrosome;Cytosol;Cell membrane NA 0 PE1 -NX_O75817 15651 140 9.09 7 Cytoplasm;Nucleolus;Cytoplasmic vesicle;Nucleolus;Cytoplasmic granule NA 0 PE1 -NX_O75818 41834 363 6.21 6 Nucleolus;Nucleoplasm NA 0 PE1 -NX_O75820 72976 626 8.85 9 Nucleus;Cytoskeleton NA 0 PE1 -NX_O75821 35611 320 5.87 19 Cytosol;Perinuclear region;Nucleus;Cytoplasm NA 0 PE1 -NX_O75822 29062 258 4.72 15 Cytosol;Cytoplasm NA 0 PE1 -NX_O75828 30850 277 5.82 21 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_O75829 37102 334 7.5 13 Endomembrane system;Extracellular matrix NA 1 PE1 -NX_O75830 46145 405 5.08 3 Secreted NA 0 PE1 -NX_O75832 24428 226 5.71 X Cytosol;Cytoplasm;Nucleus;Cytoskeleton NA 0 PE1 -NX_O75838 21644 187 4.48 15 Cytoplasm;Stereocilium;Photoreceptor inner segment;Photoreceptor outer segment;Sarcolemma Deafness, autosomal recessive, 48;Usher syndrome 1J 0 PE1 -NX_O75840 33362 302 8.19 2 Golgi apparatus;Nucleus NA 0 PE1 -NX_O75841 29643 260 5.16 3 Membrane NA 4 PE1 -NX_O75843 87117 785 6.09 14 Golgi apparatus membrane;Cytoplasmic vesicle membrane;Endosome membrane NA 0 PE1 -NX_O75844 54813 475 7.11 1 Endoplasmic reticulum membrane;Cytosol;Nucleus inner membrane;Golgi apparatus Mandibuloacral dysplasia with type B lipodystrophy;Lethal tight skin contracture syndrome 7 PE1 -NX_O75845 35301 299 7.85 11 Nucleoplasm;Cell membrane;Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum Lathosterolosis 4 PE1 -NX_O75864 74767 691 4.97 19 Cytosol NA 0 PE1 -NX_O75865 17605 159 5.14 19 cis-Golgi network;Endoplasmic reticulum;Golgi apparatus NA 0 PE1 -NX_O75871 25909 244 6.03 19 Membrane NA 1 PE1 -NX_O75874 46659 414 6.53 2 Cytosol;Cytoplasm;Peroxisome;Nucleus;Cytoplasm Glioma 0 PE1 -NX_O75879 61864 557 8.85 4 Mitochondrion;Mitochondrion NA 0 PE1 -NX_O75880 33814 301 9.01 17 Mitochondrion Mitochondrial complex IV deficiency 0 PE1 -NX_O75881 58256 506 8.2 8 Endoplasmic reticulum membrane;Microsome membrane Congenital bile acid synthesis defect 3;Spastic paraplegia 5A, autosomal recessive 0 PE1 -NX_O75882 158537 1429 7.24 20 Secreted;Cell membrane;Cytosol NA 1 PE1 -NX_O75884 21000 186 5.79 20 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_O75886 58164 525 4.94 2 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Cytoplasm;Early endosome membrane NA 0 PE1 -NX_O75888 27433 250 9.67 17 Secreted NA 0 PE1 -NX_O75891 98829 902 5.63 3 Cytosol;Cytoplasm NA 0 PE1 -NX_O75896 12074 110 9.69 3 Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_O75897 35520 302 8.22 2 Cytoplasm;Cytosol NA 0 PE1 -NX_O75899 105821 941 8.89 9 Cell membrane;Postsynaptic cell membrane NA 7 PE1 -NX_O75900 43935 390 9.94 1 Endoplasmic reticulum membrane;Membrane NA 1 PE1 -NX_O75901 50021 435 5.2 12 Endosome NA 0 PE1 -NX_O75907 55278 488 9.41 8 Endoplasmic reticulum membrane;Nucleolus;Endoplasmic reticulum Diarrhea 7 3 PE1 -NX_O75908 59896 522 8.96 12 Endoplasmic reticulum membrane NA 5 PE1 -NX_O75909 64240 580 8.6 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_O75911 33548 302 9.07 1 Mitochondrion;Membrane;Nucleolus NA 4 PE1 -NX_O75912 116997 1065 7.98 7 Cytoplasm;Nucleus NA 0 PE1 -NX_O75914 62310 559 5.33 X Cytosol;Cytoplasm Mental retardation, X-linked 30 0 PE1 -NX_O75915 21615 188 9.77 3 Endoplasmic reticulum membrane;Cell membrane;Cytoplasm;Cytoskeleton;Endoplasmic reticulum NA 4 PE1 -NX_O75916 76966 674 9.42 17 Nucleoplasm;Membrane Prolonged electroretinal response suppression 0 PE1 -NX_O75920 12349 110 9.79 5 Nucleus NA 0 PE2 -NX_O75923 237295 2080 5.44 2 Microtubule organizing center;Cell membrane;Cell membrane;Sarcolemma;Cytoplasmic vesicle membrane Limb-girdle muscular dystrophy 2B;Miyoshi muscular dystrophy 1;Distal myopathy with anterior tibial onset 1 PE1 -NX_O75925 71836 651 6.9 15 Nucleus speckle;PML body;Cytoskeleton NA 0 PE1 -NX_O75928 68240 621 7.47 18 Nucleoplasm;PML body;Nucleus speckle;Nucleus NA 0 PE1 -NX_O75934 26131 225 5.48 1 Nucleus speckle;Centrosome;Nucleolus NA 0 PE1 -NX_O75935 21119 186 5.37 9 Cytoplasm;Midbody;Cleavage furrow;Spindle;Kinetochore;Centrosome;Nucleolus;Cytosol NA 0 PE1 -NX_O75936 44715 387 6.28 11 Cytoplasm NA 0 PE1 -NX_O75937 29842 253 9.04 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_O75940 26711 238 6.78 10 Nucleus;Nucleus;Nucleus speckle;Cajal body NA 0 PE1 -NX_O75943 77055 681 6.63 5 Nucleus;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_O75947 18491 161 5.21 17 Mitochondrion inner membrane;Mitochondrion;Mitochondrion;Nucleoplasm NA 0 PE1 -NX_O75949 52605 473 8.29 X Membrane NA 2 PE2 -NX_O75951 16956 148 5.73 17 Flagellum;Cell surface;Secreted NA 0 PE1 -NX_O75952 52774 493 4.51 18 Cytosol;Cytoskeleton;Flagellum;Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_O75953 39133 348 9.12 9 Nucleus;Cytosol NA 0 PE1 -NX_O75954 26779 239 7.89 12 Cytosol;Golgi apparatus;Nucleoplasm;Membrane NA 4 PE1 -NX_O75955 47355 427 7.08 6 Cell membrane;Endosome;Caveola;Melanosome;Membrane raft;Cytoplasmic vesicle;Cell membrane;Golgi apparatus NA 0 PE1 -NX_O75956 13101 126 9.51 11 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_O75962 346900 3097 5.94 5 Cytoplasm;Cytosol;Cytoplasmic vesicle Mental retardation, autosomal dominant 44 0 PE1 -NX_O75964 11428 103 9.65 11 Mitochondrion;Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_O75969 94751 853 5.84 12 Acrosome NA 0 PE1 -NX_O75970 221618 2070 4.95 9 Postsynaptic density;Apical cell membrane;Cell membrane;Tight junction;Synapse;Synaptosome;Dendrite Hydrocephalus, non-syndromic, autosomal recessive 2 0 PE1 -NX_O75971 11328 98 4.55 15 Nucleus;Nucleus NA 0 PE1 -NX_O75973 26453 258 5.32 17 Secreted NA 0 PE1 -NX_O75976 152931 1380 5.68 17 Nucleus membrane;Nucleoplasm;Nucleus speckle;Cell membrane NA 1 PE1 -NX_O75995 41595 380 5.17 X NA NA 0 PE1 -NX_O76000 35543 313 8.77 6 Cell membrane NA 7 PE3 -NX_O76001 34950 311 7.6 6 Cell membrane NA 7 PE1 -NX_O76002 35204 312 8.5 6 Cell membrane NA 7 PE2 -NX_O76003 37432 335 5.31 10 Cytosol;Cell cortex;Z line NA 0 PE1 -NX_O76009 45940 404 4.78 17 NA NA 0 PE1 -NX_O76011 49424 436 5.01 17 Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_O76013 52247 467 4.9 17 NA NA 0 PE1 -NX_O76014 49747 449 4.9 17 NA NA 0 PE1 -NX_O76015 50480 456 4.79 17 NA NA 0 PE1 -NX_O76021 54973 490 10.13 16 Nucleolus;Nucleolus NA 0 PE1 -NX_O76024 100292 890 8.34 4 Endoplasmic reticulum membrane Wolfram syndrome 1;Wolfram-like syndrome autosomal dominant;Cataract 41;Deafness, autosomal dominant, 6 11 PE1 -NX_O76027 38364 345 5.53 1 Cytosol;Nucleus speckle NA 0 PE1 -NX_O76031 69224 633 7.51 15 Mitochondrion;Mitochondrion nucleoid;Mitochondrion NA 0 PE1 -NX_O76036 34481 304 7.63 19 Cell membrane;Endoplasmic reticulum NA 1 PE1 -NX_O76038 32040 276 5.25 6 Cytoplasm;Secreted;Secretory vesicle membrane NA 0 PE1 -NX_O76039 115538 1030 9.58 X Nucleus;Nucleoplasm Epileptic encephalopathy, early infantile, 2 0 PE1 -NX_O76041 116453 1014 7.89 10 Cytoplasm NA 0 PE1 -NX_O76042 14968 136 8.57 3 NA NA 0 PE5 -NX_O76050 61860 574 8.89 10 Postsynaptic density;Perinuclear region;Cell membrane;Perikaryon;Dendrite NA 0 PE1 -NX_O76054 46145 403 7.95 22 Nucleus;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_O76061 33249 302 6.93 5 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_O76062 46406 418 9.05 11 Endoplasmic reticulum membrane;Microsome membrane;Cytoplasmic vesicle;Endoplasmic reticulum NA 7 PE1 -NX_O76064 55518 485 7.08 6 Nucleus;Telomere;Midbody;Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_O76070 13331 127 4.89 10 Spindle;Golgi apparatus;Cell membrane;Perinuclear region;Centrosome NA 0 PE1 -NX_O76071 37840 339 4.81 2 Cytosol;Nucleoplasm NA 0 PE1 -NX_O76074 99985 875 5.74 4 Cytosol NA 0 PE1 -NX_O76075 39110 338 9.2 1 Nucleus;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_O76076 26825 250 8.32 20 Secreted NA 0 PE1 -NX_O76080 23132 213 8.86 9 Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_O76081 43692 388 6.48 8 Membrane;Nucleus;Cytoplasm NA 0 PE1 -NX_O76082 62752 557 8.07 5 Mitochondrion;Membrane Systemic primary carnitine deficiency 12 PE1 -NX_O76083 68493 593 5.85 21 Cytoplasm;Ruffle membrane;Nucleoplasm;Cytoplasmic vesicle;Perinuclear region;Golgi apparatus;Endoplasmic reticulum;Sarcolemma NA 0 PE1 -NX_O76087 12978 117 4.3 X NA NA 0 PE2 -NX_O76090 67684 585 6.43 11 Cell membrane;Basolateral cell membrane Retinitis pigmentosa 50;Bestrophinopathy, autosomal recessive;Macular dystrophy, vitelliform, 2;Vitreoretinochoroidopathy, autosomal dominant 4 PE1 -NX_O76093 23989 207 9.86 5 Secreted NA 0 PE1 -NX_O76094 74606 671 9.31 4 Endoplasmic reticulum;Cytoplasm Bone marrow failure syndrome 1 0 PE1 -NX_O76095 16358 146 8.67 1 Membrane;Spindle;Centrosome;Cytoplasm;Mitochondrion;Cytoplasmic vesicle;Cytoskeleton NA 1 PE1 -NX_O76096 16454 145 8.82 20 Cytoplasm;Secreted NA 0 PE1 -NX_O76099 35519 320 7.55 19 Cell membrane NA 7 PE2 -NX_O76100 34406 309 8.02 19 Cell membrane NA 7 PE3 -NX_O77932 44929 396 7.6 6 Cytosol;Cell membrane;Nucleus;Nucleoplasm NA 0 PE1 -NX_O94759 171198 1503 7.27 21 Cell membrane;Perikaryon;Cell projection;Nucleus membrane;Lysosome;Cytoplasmic vesicle NA 6 PE1 -NX_O94760 31122 285 5.53 1 Cell membrane;Cytosol;Nucleolus NA 0 PE1 -NX_O94761 133077 1208 8.45 8 Nucleus;Cytoplasm;Nucleus RAPADILINO syndrome;Baller-Gerold syndrome;Rothmund-Thomson syndrome 0 PE1 -NX_O94762 108858 991 8.86 17 Cytosol;Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_O94763 59832 535 4.92 19 Cytosol;Mitochondrion;Nucleoplasm;Cytoplasm;Nucleus;Dendrite NA 0 PE1 -NX_O94766 37122 335 8.4 11 Golgi apparatus membrane;cis-Golgi network Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 1 PE1 -NX_O94768 42344 372 5.13 2 Cytosol;Cell membrane;Nucleus;Cell membrane;Endoplasmic reticulum-Golgi intermediate compartment NA 0 PE1 -NX_O94769 79789 699 5.3 9 Extracellular matrix NA 0 PE1 -NX_O94772 14669 140 6.91 8 Cell membrane NA 0 PE1 -NX_O94776 75023 668 9.7 11 Nucleus;Nucleoplasm NA 0 PE1 -NX_O94777 9312 84 9.82 9 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1U 2 PE1 -NX_O94778 27381 261 6.41 16 Membrane NA 6 PE2 -NX_O94779 120686 1100 5.99 11 Cell membrane;Cytosol NA 0 PE1 -NX_O94782 88207 785 5.37 1 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_O94788 56724 518 5.79 15 Cytoplasm NA 0 PE1 -NX_O94804 112135 968 6.52 5 Cell membrane Testicular germ cell tumor 0 PE1 -NX_O94805 46877 426 5.48 7 Nucleus;Nucleolus NA 0 PE1 -NX_O94806 100471 890 6.42 2 Cytosol;Cytoplasm;Membrane;Nucleoplasm NA 0 PE1 -NX_O94808 76931 682 7.03 5 Cytoplasmic vesicle NA 0 PE1 -NX_O94810 52946 467 8.99 16 NA NA 0 PE1 -NX_O94811 23694 219 9.48 5 Cytoplasm;Cytoskeleton;Cytosol;Mitochondrion;Nucleus NA 0 PE1 -NX_O94812 131901 1187 5.95 16 NA NA 0 PE1 -NX_O94813 169870 1529 6.8 4 Secreted NA 0 PE1 -NX_O94817 15113 140 5.01 5 Cytoplasm;Preautophagosomal structure membrane NA 0 PE1 -NX_O94818 71357 638 5.42 18 Nucleus;Nucleolus NA 0 PE1 -NX_O94819 65720 623 5.78 8 Cytoskeleton NA 0 PE1 -NX_O94822 200552 1766 5.89 21 Cytosol NA 0 PE1 -NX_O94823 165391 1461 6.46 5 Cytoplasmic vesicle membrane;Endoplasmic reticulum membrane NA 10 PE1 -NX_O94826 67455 608 6.75 3 Cell membrane;Mitochondrion;Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_O94827 117451 1062 5.93 1 Nucleus;Cytoplasm;Cell membrane;Perinuclear region;Cell junction;Lamellipodium Charcot-Marie-Tooth disease, recessive, intermediate type, C;Distal spinal muscular atrophy, autosomal recessive, 4 0 PE1 -NX_O94829 108195 963 5.15 1 Cytoplasm;Nucleus NA 0 PE1 -NX_O94830 81032 711 5.23 8 Cytosol;Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;Microtubule organizing center;cis-Golgi network Spastic paraplegia 54, autosomal recessive 0 PE1 -NX_O94832 116202 1006 9.44 17 Cytosol NA 0 PE1 -NX_O94842 66195 621 4.92 14 Nucleus;Nucleus;Nucleolus;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_O94844 79417 696 6.42 10 Cytosol;Nucleoplasm NA 0 PE1 -NX_O94850 75996 711 10.18 12 Cytosol;Nucleoplasm;Dendritic spine membrane;Cytoplasm;Endoplasmic reticulum membrane;Perikaryon;Nucleus NA 0 PE1 -NX_O94851 126689 1124 8.9 11 Golgi apparatus;Nucleus NA 0 PE1 -NX_O94854 135148 1291 4.14 1 Cell junction;Cell membrane;Cytoskeleton NA 0 PE1 -NX_O94855 113010 1032 6.91 4 Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum membrane;COPII-coated vesicle membrane Cole-Carpenter syndrome 2 0 PE1 -NX_O94856 150027 1347 6.24 1 Cell membrane NA 1 PE1 -NX_O94864 46193 414 5.01 2 Nucleus;Nucleoplasm NA 0 PE1 -NX_O94868 84276 740 5.55 11 Cell membrane;Nucleus speckle;Cytoskeleton;Focal adhesion NA 0 PE1 -NX_O94874 89595 794 6.35 6 Endoplasmic reticulum;Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_O94875 124108 1100 8.56 4 Perinuclear region;Lamellipodium;Nucleoplasm;Apical cell membrane;Focal adhesion NA 0 PE1 -NX_O94876 72083 653 6.12 3 Endoplasmic reticulum membrane NA 2 PE1 -NX_O94880 100053 888 5.22 7 NA NA 0 PE1 -NX_O94885 136653 1247 5.78 6 Cytosol;Nucleoplasm NA 0 PE1 -NX_O94886 92126 807 6.98 1 Microtubule organizing center;Cytoplasmic vesicle;Lysosome membrane NA 10 PE1 -NX_O94887 119888 1054 8.96 2 Cytosol NA 0 PE1 -NX_O94888 54862 489 5.06 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_O94889 63638 574 5.36 3 Nucleus;Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_O94892 74836 652 9.04 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_O94898 118965 1065 5.35 1 Cell membrane;Cytoplasm;Nucleus;Golgi apparatus Urofacial syndrome 2 1 PE1 -NX_O94900 57513 526 6.85 8 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_O94901 90064 812 6.61 7 Cytoplasm;Nucleus inner membrane;Nucleus membrane NA 1 PE1 -NX_O94903 30344 275 7.09 8 Nucleus;Cytosol;Cytoplasm Epilepsy, early-onset, vitamin B6-dependent 0 PE1 -NX_O94905 37840 339 5.47 8 Endoplasmic reticulum;Endoplasmic reticulum membrane;Endoplasmic reticulum Spastic paraplegia 18, autosomal recessive 1 PE1 -NX_O94906 106925 941 8.49 20 Nucleus speckle;Nucleoplasm;Nucleus speckle Retinitis pigmentosa 60 0 PE1 -NX_O94907 28672 266 8.8 10 Secreted NA 0 PE1 -NX_O94910 162717 1474 6.17 19 Cell membrane;Synaptosome;Presynaptic cell membrane;Synapse;Growth cone;Axon NA 7 PE1 -NX_O94911 179245 1581 6.81 17 Nucleoplasm;Cytosol;Cell membrane NA 14 PE1 -NX_O94913 173050 1555 8.65 11 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_O94915 339598 3013 5.36 4 Cytosol;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_O94916 165763 1531 5.12 16 Nucleus;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_O94919 55017 500 5.55 11 Secreted;Nucleus membrane NA 0 PE1 -NX_O94921 53057 469 9.06 7 Nucleus;Cytosol;Nucleus;Cytoplasm;Cell membrane NA 0 PE1 -NX_O94923 70101 617 9.04 15 Golgi apparatus membrane;Mitochondrion NA 1 PE1 -NX_O94925 73461 669 7.85 2 Mitochondrion;Mitochondrion;Cytosol NA 0 PE1 -NX_O94927 71682 633 8.83 19 Centrosome;Spindle NA 0 PE1 -NX_O94929 77802 683 8.86 5 Cell membrane;Nucleoplasm;Cell junction;Cytoplasm NA 0 PE1 -NX_O94933 108934 977 7.03 3 Membrane;Mitochondrion NA 1 PE1 -NX_O94941 58966 541 7.53 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_O94952 72270 628 5.73 12 Mitochondrion NA 0 PE1 -NX_O94953 121897 1096 6.72 19 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_O94955 69413 611 7.72 5 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_O94956 76711 709 8.7 11 Cell membrane NA 12 PE1 -NX_O94964 159760 1423 6.08 20 Nucleolus;Cytosol;Secreted NA 0 PE1 -NX_O94966 145651 1318 5.89 3 Endoplasmic reticulum membrane NA 1 PE1 -NX_O94967 101949 919 5.59 1 Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_O94972 107906 964 5.04 17 Perinuclear region;Peroxisome Mulibrey nanism 0 PE1 -NX_O94973 103960 939 6.53 11 Cytoplasmic vesicle;Cell membrane;Nucleoplasm;Coated pit NA 0 PE1 -NX_O94979 133015 1220 6.43 4 Cytosol;Cytoplasmic vesicle;COPII-coated vesicle membrane;Cytoplasm;Endoplasmic reticulum membrane NA 0 PE1 -NX_O94983 131530 1202 6.92 17 Nucleus;Nucleus;Mitochondrion;Cytoskeleton NA 0 PE1 -NX_O94985 109793 981 4.81 1 Nucleus;Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell projection;Postsynaptic cell membrane NA 1 PE1 -NX_O94986 195626 1710 5.45 15 Centriole;Centrosome;Centrosome Microcephaly 9, primary, autosomal recessive;Seckel syndrome 5 0 PE1 -NX_O94988 116932 1023 6.07 4 Cytosol;Cell junction;Nucleolus NA 0 PE1 -NX_O94989 91940 841 8.61 17 Cell membrane;Dendrite NA 0 PE1 -NX_O94991 107486 958 6.48 13 Nucleoplasm;Golgi apparatus;Membrane NA 1 PE1 -NX_O94992 40623 359 4.84 17 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoplasm NA 0 PE1 -NX_O94993 81854 753 6.92 5 Nucleus NA 0 PE1 -NX_O95006 35294 317 8.66 7 Cell membrane NA 7 PE2 -NX_O95007 35299 311 8.82 7 Cell membrane NA 7 PE2 -NX_O95013 35094 312 9.03 8 Cell membrane NA 7 PE3 -NX_O95025 89651 777 7.94 7 Cell membrane;Secreted;Golgi apparatus NA 0 PE1 -NX_O95045 35527 317 6.21 2 Cytoplasmic vesicle;Mitochondrion;Nucleus NA 0 PE1 -NX_O95047 34802 310 9.18 6 Cell membrane NA 7 PE2 -NX_O95049 101397 919 6.29 19 Nucleoplasm;Cell junction;Cell membrane;Tight junction NA 0 PE1 -NX_O95050 28891 263 5.15 7 Cytoplasmic vesicle;Golgi apparatus;Cytoplasm NA 0 PE1 -NX_O95057 22329 198 8.94 19 Cell membrane NA 0 PE1 -NX_O95059 13693 124 7.62 3 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_O95067 45282 398 9 15 Cytoskeleton;Golgi apparatus;Cytosol NA 0 PE1 -NX_O95069 47093 426 8.46 1 Cytosol;Mitochondrion;Endoplasmic reticulum membrane;Cell membrane NA 4 PE1 -NX_O95070 32011 293 8.98 11 Endoplasmic reticulum membrane;Microtubule organizing center;Cytoplasmic vesicle;Golgi apparatus;Golgi apparatus membrane NA 5 PE1 -NX_O95071 309352 2799 5.59 8 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_O95072 62614 547 5 14 Nucleus;Chromosome;Centromere;Nucleoplasm NA 0 PE1 -NX_O95073 34768 299 6.62 8 Nucleus;Nucleus NA 0 PE1 -NX_O95076 36935 343 8.81 1 Nucleus Frontonasal dysplasia 1 0 PE1 -NX_O95081 48963 481 9.28 7 NA NA 0 PE1 -NX_O95084 43001 383 9.48 11 Golgi apparatus;Secreted NA 0 PE1 -NX_O95096 30133 273 7.81 20 Nucleus NA 0 PE1 -NX_O95104 125869 1147 9.58 21 Nucleoplasm;Nucleus NA 0 PE1 -NX_O95125 74720 648 5.63 11 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_O95136 38867 353 9.21 19 Cell membrane Deafness, autosomal recessive, 68 7 PE1 -NX_O95139 15489 128 9.63 9 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_O95140 86402 757 6.52 1 Mitochondrion outer membrane Charcot-Marie-Tooth disease 2A2A;Charcot-Marie-Tooth disease 2A2B;Neuropathy, hereditary motor and sensory, 6A 2 PE1 -NX_O95147 22255 198 9.62 17 Nucleoplasm;Cytosol NA 0 PE1 -NX_O95149 41143 360 6.17 15 Cytoplasm;Nucleus membrane;Nucleus;Cytoplasm NA 0 PE1 -NX_O95150 28087 251 6.31 9 Cytosol;Nucleus membrane;Membrane;Secreted;Nucleus NA 1 PE1 -NX_O95153 200051 1857 5.05 17 Cytoplasm;Mitochondrion NA 0 PE1 -NX_O95154 37206 331 6.67 1 Cytoplasm NA 0 PE1 -NX_O95155 146185 1302 6.13 1 Nucleus;Cytoplasm NA 0 PE1 -NX_O95156 29938 264 8.95 2 Secreted NA 0 PE2 -NX_O95157 28127 252 8.82 17 Secreted NA 0 PE1 -NX_O95158 33065 308 9.89 12 Secreted NA 0 PE1 -NX_O95159 34114 310 8.42 11 Golgi apparatus;cis-Golgi network membrane NA 1 PE1 -NX_O95163 150254 1332 5.61 9 Cytoplasm;Cytosol;Nucleus;Nucleoplasm Neuropathy, hereditary sensory and autonomic, 3 0 PE1 -NX_O95164 13157 117 6.27 13 Nucleus;Cytoplasm;Centrosome;Cell membrane NA 0 PE1 -NX_O95166 13918 117 8.73 17 Endomembrane system;Cytoskeleton;Golgi apparatus membrane;Autophagosome;Cytoplasmic vesicle NA 0 PE1 -NX_O95167 9279 84 8.01 19 Mitochondrion inner membrane NA 1 PE1 -NX_O95168 15209 129 9.85 3 Mitochondrion;Mitochondrion inner membrane;Nucleus membrane NA 1 PE1 -NX_O95169 21766 186 6.29 10 Mitochondrion;Mitochondrion;Mitochondrion inner membrane;Endoplasmic reticulum NA 1 PE1 -NX_O95170 85370 752 9.23 17 NA NA 0 PE2 -NX_O95171 77552 688 9.42 13 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm;Membrane NA 0 PE1 -NX_O95177 12619 125 8.04 16 NA NA 0 PE2 -NX_O95178 12058 105 5.47 7 Mitochondrion inner membrane NA 0 PE1 -NX_O95180 259163 2353 7.13 16 Cytoplasmic vesicle;Membrane;Nucleoplasm Hyperaldosteronism, familial, 4;Epilepsy, idiopathic generalized 6;Epilepsy, childhood absence 6 24 PE1 -NX_O95182 12551 113 10.19 19 Cell membrane;Cytoplasm;Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_O95183 12805 116 7.7 2 Endomembrane system;trans-Golgi network membrane;Cell membrane;Nucleoplasm;Cell membrane NA 1 PE1 -NX_O95185 103146 931 5.74 4 Cell membrane;Synaptosome NA 1 PE1 -NX_O95190 21011 189 5.21 15 Nucleus;Golgi apparatus NA 0 PE1 -NX_O95196 60016 566 4.39 3 Mitochondrion;Nucleoplasm;Cell surface;Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane NA 1 PE1 -NX_O95197 112611 1032 4.85 11 Endoplasmic reticulum;Endoplasmic reticulum membrane;Golgi apparatus membrane NA 0 PE1 -NX_O95198 65975 593 6.3 4 Cytoplasmic vesicle;Nucleoplasm;Cytoskeleton;Ruffle;Cell projection;Lamellipodium;Cytosol NA 0 PE1 -NX_O95199 60315 551 5.29 13 Golgi apparatus;Nucleus NA 0 PE1 -NX_O95201 60630 554 8.88 16 Nucleus;Nucleoplasm NA 0 PE1 -NX_O95202 83354 739 6.3 4 Mitochondrion inner membrane;Mitochondrion NA 1 PE1 -NX_O95206 113019 1070 5.35 13 Cell membrane;Dendrite;Presynaptic cell membrane;Postsynaptic cell membrane NA 1 PE1 -NX_O95208 68482 641 7.11 17 Cytoplasm;Clathrin-coated vesicle;Cytoplasmic vesicle NA 0 PE1 -NX_O95210 39007 358 5.46 4 Cytosol;Preautophagosomal structure membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_O95214 14428 131 5.55 8 Membrane NA 4 PE1 -NX_O95218 37404 330 10.03 1 Nucleus;Nucleus NA 0 PE1 -NX_O95219 51909 450 5.69 3 Early endosome membrane NA 0 PE1 -NX_O95221 35132 314 8.9 11 Cell membrane NA 7 PE2 -NX_O95222 36154 327 8.4 11 Cell membrane NA 7 PE2 -NX_O95229 31293 277 5.1 10 Nucleus;Nucleoplasm;Kinetochore;Cytosol;Nucleus NA 0 PE1 -NX_O95231 27552 258 9.74 10 Nucleus;Nucleolus;Cytosol NA 0 PE1 -NX_O95232 51466 432 9.81 17 Nucleus speckle;Nucleus speckle NA 0 PE1 -NX_O95235 100278 890 6.49 5 Spindle;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_O95236 44278 402 8.4 22 Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_O95237 25703 230 7.01 4 Endoplasmic reticulum membrane;Multivesicular body;Perinuclear region;Rough endoplasmic reticulum;Endoplasmic reticulum;Golgi apparatus Leber congenital amaurosis 14 1 PE1 -NX_O95238 37518 335 5.89 6 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_O95239 139881 1232 5.99 X Midbody;Nucleus matrix;Spindle;Chromosome NA 0 PE1 -NX_O95243 66051 580 9.01 3 Nucleus speckle;Nucleus NA 0 PE1 -NX_O95248 208315 1867 6.46 22 Nucleus;Endoplasmic reticulum;Cytoplasmic vesicle Charcot-Marie-Tooth disease 4B3 0 PE1 -NX_O95249 28613 250 9.46 17 Golgi apparatus membrane NA 1 PE1 -NX_O95251 70642 611 9.01 17 Nucleoplasm;Nucleoplasm NA 0 PE1 -NX_O95255 164906 1503 8.82 16 Cell membrane;Basolateral cell membrane;Endoplasmic reticulum membrane Arterial calcification of infancy, generalized, 2;Pseudoxanthoma elasticum 17 PE1 -NX_O95256 68310 599 8.67 2 Cell membrane NA 1 PE1 -NX_O95257 17121 159 4.26 9 Nucleus NA 0 PE1 -NX_O95258 36202 325 9.66 X Mitochondrion;Mitochondrion inner membrane NA 6 PE1 -NX_O95259 111423 989 7.52 1 Cell membrane;Nucleus inner membrane;Dendrite;Cytoplasmic vesicle;Postsynaptic density;Early endosome membrane;Axon;Presynaptic cell membrane;Perikaryon Temple-Baraitser syndrome;Zimmermann-Laband syndrome 1 6 PE1 -NX_O95260 59090 518 8.17 10 Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_O95263 98979 885 6.35 5 Nucleoplasm;Cytosol Striatal degeneration, autosomal dominant 1;Primary pigmented nodular adrenocortical disease 3 0 PE1 -NX_O95264 50292 441 5.15 11 Cell membrane NA 4 PE1 -NX_O95267 90402 797 8.2 15 Golgi apparatus membrane;Endoplasmic reticulum membrane;Cytosol;Cell membrane;Cell membrane;Cytosol Systemic lupus erythematosus 0 PE1 -NX_O95271 142039 1327 6.58 8 Nucleus membrane;Cytoplasm;Spindle pole;Golgi apparatus membrane;Nucleoplasm;Nuclear pore complex;Centromere;Telomere NA 0 PE1 -NX_O95273 40262 360 4.71 15 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_O95274 35971 346 8.05 19 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane NA 0 PE1 -NX_O95278 37158 331 6.19 6 Nucleoplasm;Endoplasmic reticulum membrane;Nucleus;Cell membrane;Cytoplasm Epilepsy, progressive myoclonic 2 0 PE1 -NX_O95279 55130 499 6.3 6 Nucleus;Membrane NA 4 PE1 -NX_O95292 27228 243 6.85 20 Endoplasmic reticulum membrane;Endoplasmic reticulum Spinal muscular atrophy, proximal, adult, autosomal dominant;Amyotrophic lateral sclerosis 8 1 PE1 -NX_O95294 90016 804 6.09 12 Cell membrane;Cytosol;Cell junction NA 0 PE1 -NX_O95295 14874 136 9.35 1 Synaptic vesicle membrane;Lysosome membrane;Golgi apparatus membrane;Perinuclear region;Cytosol;Golgi apparatus;Nucleolus;Membrane NA 0 PE1 -NX_O95297 29082 269 8.85 1 Membrane;Cell membrane;Cytoplasmic vesicle NA 1 PE1 -NX_O95298 14188 119 9.04 11 Cytoplasm;Mitochondrion inner membrane NA 1 PE1 -NX_O95299 40751 355 8.67 2 Mitochondrion;Mitochondrion matrix Leigh syndrome 0 PE1 -NX_O95302 63084 570 4.91 7 Endoplasmic reticulum NA 0 PE1 -NX_O95319 54285 508 8.98 10 Nucleus;Cytoplasm;Nucleoplasm;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_O95336 27547 258 5.7 19 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_O95340 69501 614 8.18 10 Mitochondrion Brachyolmia type 4 with mild epiphyseal and metaphyseal changes 0 PE1 -NX_O95342 146407 1321 6.17 2 Nucleoplasm;Cell membrane;Membrane;Cytosol Cholestasis, benign recurrent intrahepatic, 2;Cholestasis, progressive familial intrahepatic, 2 12 PE1 -NX_O95343 35487 332 8.95 2 Nucleoplasm;Nucleus Holoprosencephaly 2;Schizencephaly 0 PE1 -NX_O95347 135656 1197 8.54 9 Nucleolus;Nucleus;Chromosome;Nucleus;Cytoplasm NA 0 PE1 -NX_O95352 77960 703 5.85 3 Cytosol;Nucleoplasm;Cell membrane;Preautophagosomal structure;Cytoplasm NA 0 PE1 -NX_O95359 309427 2948 4.71 10 Cell membrane;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Centrosome NA 0 PE1 -NX_O95361 63955 564 5.34 17 Cytoplasm NA 0 PE1 -NX_O95363 52357 451 6.99 6 Cell membrane;Mitochondrion;Mitochondrion matrix Spastic paraplegia 77, autosomal recessive;Combined oxidative phosphorylation deficiency 14 0 PE1 -NX_O95365 61439 584 4.98 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_O95371 34412 312 8.96 16 Cell membrane NA 7 PE2 -NX_O95372 24737 231 6.74 1 Cytoplasm NA 0 PE1 -NX_O95373 119517 1038 4.7 11 Nucleus;Cytoplasm;Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O95376 57819 493 5.4 3 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_O95377 31088 273 8.53 1 Cell membrane;Gap junction NA 4 PE1 -NX_O95379 23003 198 7.75 5 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_O95382 142596 1288 6.7 1 Nucleus;Cytosol;Cytoskeleton;Cell membrane NA 0 PE1 -NX_O95388 40331 367 6.84 8 Cytosol;Secreted NA 0 PE1 -NX_O95389 39293 354 8.87 6 Secreted;Endoplasmic reticulum Progressive pseudorheumatoid arthropathy of childhood 0 PE1 -NX_O95390 45091 407 8.18 12 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_O95391 68387 586 6.69 5 Nucleoplasm;Nucleus;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_O95393 48047 424 4.89 2 Secreted NA 0 PE1 -NX_O95394 59852 542 5.84 6 Cytosol;Nucleoplasm Immunodeficiency 23 0 PE1 -NX_O95395 50864 438 8.53 15 Cytoplasmic vesicle;Golgi apparatus;Golgi apparatus membrane NA 1 PE1 -NX_O95396 49669 460 5.85 20 Cytoplasm NA 0 PE1 -NX_O95397 43539 391 5.03 12 NA NA 0 PE5 -NX_O95398 103751 923 7.28 12 Endomembrane system;Cytosol NA 0 PE1 -NX_O95399 14296 124 7.67 1 Secreted NA 0 PE1 -NX_O95400 37646 341 4.49 16 Cytosol;Nucleus speckle;Cytoplasm;Nucleus NA 0 PE1 -NX_O95402 65446 600 9.27 19 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytosol NA 0 PE1 -NX_O95405 156403 1425 4.89 1 Early endosome membrane;Cytosol;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_O95406 16699 144 5.39 14 Golgi apparatus membrane;Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 3 PE1 -NX_O95407 32680 300 8.68 20 Secreted NA 0 PE1 -NX_O95409 55006 532 8.68 13 Nucleus;Nucleus;Cytoplasm Holoprosencephaly 5 0 PE1 -NX_O95411 12414 115 8.35 17 Nucleus NA 0 PE2 -NX_O95415 13645 125 8.69 7 Lysosome membrane NA 2 PE1 -NX_O95416 26485 240 9.68 3 Nucleus NA 0 PE1 -NX_O95424 10429 95 3.61 16 Cytoplasm;Nucleus speckle;Cytosol NA 0 PE2 -NX_O95425 247746 2214 6.55 10 Cytosol;Invadopodium;Cytoskeleton;Cell membrane;Cytoskeleton;Cell membrane;Podosome;Midbody;Cleavage furrow NA 0 PE1 -NX_O95427 105810 931 8.82 18 Endoplasmic reticulum membrane;Cell membrane;Cytosol Multiple congenital anomalies-hypotonia-seizures syndrome 1 15 PE1 -NX_O95428 137700 1278 6.45 14 Secreted;Nucleoplasm NA 0 PE1 -NX_O95429 49594 457 5.02 8 Cytoplasm NA 0 PE1 -NX_O95433 38274 338 5.41 14 Endoplasmic reticulum;Cytosol;Cytosol NA 0 PE1 -NX_O95436 75759 690 8.54 4 Membrane Pulmonary alveolar microlithiasis 8 PE1 -NX_O95445 21253 188 5.66 6 Cell membrane;Secreted;Golgi apparatus NA 0 PE1 -NX_O95447 76505 670 9.51 21 Nucleoplasm;Cytosol NA 0 PE1 -NX_O95450 134755 1211 6.76 5 Cytoplasmic vesicle;Cell membrane;Extracellular matrix Ehlers-Danlos syndrome 7C 0 PE1 -NX_O95452 30387 261 8.81 13 Cell junction;Cell membrane;Gap junction Ectodermal dysplasia 2, Clouston type;Deafness, autosomal dominant, 3B;Deafness, autosomal recessive, 1B 4 PE1 -NX_O95453 73451 639 5.86 16 Nucleus speckle;Nucleus;Cytoplasm;Nucleolus;Nucleolus Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 4;Dyskeratosis congenita, autosomal recessive, 6 0 PE1 -NX_O95455 40214 350 6.15 13 Nucleus;Nucleolus;Cytoskeleton Catel-Manzke syndrome 0 PE1 -NX_O95456 32854 288 6.88 21 Nucleoplasm;Golgi apparatus;Cytoplasm;Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_O95460 68487 622 5.73 20 Secreted NA 0 PE1 -NX_O95461 88066 756 7.89 22 Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 1 PE1 -NX_O95466 121854 1100 5.56 17 Cytoplasm;Cytosol;Cell membrane;Bleb;Phagosome;Cell cortex NA 0 PE1 -NX_O95467 28029 245 5.37 20 Secreted;Secretory vesicle Pseudohypoparathyroidism 1B;ACTH-independent macronodular adrenal hyperplasia 1;GNAS hyperfunction 0 PE1 -NX_O95470 63524 568 9.24 10 Endoplasmic reticulum membrane;Endoplasmic reticulum Nephrotic syndrome 14 1 PE1 -NX_O95471 22418 211 8.91 17 Cell junction;Cytoplasmic vesicle;Basolateral cell membrane;Cell membrane;Tight junction NA 4 PE1 -NX_O95473 25820 234 7.64 19 Golgi apparatus;Membrane NA 4 PE1 -NX_O95475 27687 246 9.49 14 Nucleoplasm;Nucleus Optic disk anomalies with retinal and/or macular dystrophy 0 PE1 -NX_O95476 28377 244 9.78 17 Nucleus membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_O95477 254302 2261 6.43 9 Nucleoplasm;Membrane;Cytoplasmic vesicle High density lipoprotein deficiency 1;High density lipoprotein deficiency 2 15 PE1 -NX_O95478 30065 260 10.28 5 Nucleus;Nucleolus;Nucleolus;Nucleolus;Nucleus NA 0 PE1 -NX_O95479 88893 791 6.84 1 Cytosol;Endoplasmic reticulum lumen Cortisone reductase deficiency 0 PE1 -NX_O95484 22848 217 6.54 16 Tight junction;Cytoplasmic vesicle;Cell membrane;Cell junction NA 4 PE1 -NX_O95486 119749 1093 7.58 5 Cytoplasmic vesicle;Nucleolus;Cytosol;Endoplasmic reticulum membrane;COPII-coated vesicle membrane NA 0 PE1 -NX_O95487 137418 1268 6.19 4 Cytoplasmic vesicle;Cytosol;Nucleus;Endoplasmic reticulum membrane;COPII-coated vesicle membrane NA 0 PE1 -NX_O95490 163349 1459 6.02 1 Membrane;Cell membrane;Cell junction NA 7 PE1 -NX_O95497 57012 513 5.32 6 Cell membrane NA 0 PE1 -NX_O95498 58503 520 6.07 6 Cell membrane NA 0 PE1 -NX_O95500 25699 239 8.94 21 Tight junction;Cell membrane Deafness, autosomal recessive, 29 4 PE1 -NX_O95502 52846 500 5.82 22 Cytosol;Nucleoplasm;Membrane;Cell membrane NA 1 PE1 -NX_O95503 43898 412 10.02 22 Nucleus;Mitochondrion;Chromosome;Nucleus NA 0 PE1 -NX_O95521 55149 474 8.88 1 NA NA 0 PE2 -NX_O95522 54633 483 6.11 1 Nucleoplasm NA 0 PE3 -NX_O95528 56911 541 8.9 20 Endomembrane system;Cytosol;Perinuclear region Arterial tortuosity syndrome 12 PE1 -NX_O95544 49228 446 6.03 1 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_O95551 40930 362 5.02 6 PML body;Nucleolus;Cytoplasm;Nucleus;Nucleoplasm;Nucleus Spinocerebellar ataxia, autosomal recessive, 23 0 PE1 -NX_O95561 21209 183 9.86 1 NA NA 0 PE1 -NX_O95562 17779 160 9.34 1 Membrane NA 4 PE1 -NX_O95563 14279 127 10.44 1 Mitochondrion;Mitochondrion inner membrane NA 3 PE1 -NX_O95567 32655 290 10.06 22 NA NA 0 PE2 -NX_O95568 42148 372 6.29 1 Nucleoplasm;Cytosol NA 0 PE1 -NX_O95571 27873 254 6.35 19 Mitochondrion matrix;Nucleus;Cytoplasm;Mitochondrion Ethylmalonic encephalopathy 0 PE1 -NX_O95573 80420 720 8.65 2 Mitochondrion outer membrane;Lipid droplet;Nucleolus;Peroxisome membrane;Microsome membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_O95600 39314 359 7.19 X Nucleoplasm;Nucleus NA 0 PE1 -NX_O95602 194811 1720 6.61 2 Nucleus;Nucleolus;Nucleolus Acrofacial dysostosis, Cincinnati type 0 PE1 -NX_O95613 378037 3336 5.4 21 Centrosome;Centrosome Microcephalic osteodysplastic primordial dwarfism 2 0 PE1 -NX_O95619 26499 227 8.4 12 Nucleus;Nucleoplasm;Nucleus membrane NA 0 PE1 -NX_O95620 35816 317 7.04 7 Cytosol NA 0 PE1 -NX_O95622 138908 1261 6.9 3 Cilium;Cell membrane;Cytoskeleton Dyskinesia, familial, with facial myokymia 12 PE1 -NX_O95625 119384 1053 8.93 3 Nucleus;Nucleoplasm NA 0 PE1 -NX_O95626 14806 131 4.98 12 NA NA 0 PE1 -NX_O95628 63510 575 6.58 7 Cytoplasm;Nucleus NA 0 PE1 -NX_O95630 48077 424 5.89 2 Cytosol;Early endosome;Cytoplasm;Nucleoplasm;Cell membrane;Membrane;Nucleus Microcephaly-capillary malformation syndrome 0 PE1 -NX_O95631 67748 604 9.1 17 Extracellular matrix NA 0 PE1 -NX_O95633 27663 263 6.37 19 Nucleoplasm;Secreted;Nucleus NA 0 PE1 -NX_O95639 30255 269 8.68 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_O95644 101243 943 6.52 18 Nucleus;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O95661 25861 229 9.46 1 Nucleus membrane;Cytosol;Cell membrane NA 0 PE1 -NX_O95665 45385 410 9.5 2 Cell membrane NA 7 PE1 -NX_O95670 13604 118 10.26 6 Melanosome NA 0 PE1 -NX_O95671 68857 621 5.71 X Cytosol NA 0 PE1 -NX_O95672 87791 775 6.58 2 Nucleus membrane;Nucleoplasm;Nucleolus;Membrane Arthrogryposis, distal, 5D 1 PE1 -NX_O95674 51418 445 6.64 20 Cytosol;Mitochondrion inner membrane;Endoplasmic reticulum NA 6 PE1 -NX_O95677 69505 639 5.04 6 Cytoplasm;Nucleoplasm;Nucleus Deafness, autosomal dominant, 10;Cardiomyopathy, dilated 1J 0 PE1 -NX_O95678 59560 551 7.6 12 Cell membrane;Cytosol Loose anagen hair syndrome 0 PE1 -NX_O95684 43065 399 4.67 6 Centrosome;Centrosome;Centriole;Cilium basal body NA 0 PE1 -NX_O95685 32559 299 8.44 20 Nucleolus;Cytoplasmic vesicle;Mitochondrion NA 0 PE1 -NX_O95696 119520 1058 8.91 22 Nucleus;Nucleus speckle NA 0 PE1 -NX_O95704 52585 486 5.97 5 Nucleus;Cytoplasm;Cytoskeleton;Cytosol NA 0 PE1 -NX_O95707 25425 220 10.08 19 Nucleolus NA 0 PE1 -NX_O95711 17906 162 5.83 6 Extracellular space NA 0 PE1 -NX_O95714 527228 4834 5.88 15 Centriole;Cytoplasm;Nucleus;Cytoplasmic vesicle Mental retardation, autosomal recessive 38 0 PE1 -NX_O95715 13078 111 10.1 5 Golgi apparatus;Secreted NA 0 PE1 -NX_O95716 24267 219 4.76 19 Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_O95718 48054 433 8.09 14 Nucleus;Chromosome;Cytoplasm Deafness, autosomal recessive, 35 0 PE1 -NX_O95721 28970 258 5.56 22 Cytoplasm;Golgi apparatus membrane;Cytosol;Autophagosome membrane;Nucleoplasm;Cilium membrane Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 0 PE1 -NX_O95727 44641 393 6.37 11 Membrane NA 1 PE1 -NX_O95741 61991 557 5.32 14 Cytoplasm;Endosome;Clathrin-coated vesicle;Perikaryon;Dendrite;Cell membrane NA 0 PE1 -NX_O95744 32669 297 9.52 7 NA NA 0 PE5 -NX_O95747 58022 527 6.03 3 Cytosol;Cytoplasm NA 0 PE1 -NX_O95749 34871 300 5.78 1 Cytoplasm NA 0 PE1 -NX_O95750 24003 216 6.55 11 Secreted NA 0 PE1 -NX_O95751 16968 146 4.11 X Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_O95754 83511 770 6.5 2 Endoplasmic reticulum;Nucleus;Membrane;Centrosome;Cell membrane NA 1 PE1 -NX_O95755 36322 333 8.05 22 Golgi apparatus membrane;Cytoplasmic vesicle NA 0 PE1 -NX_O95757 94512 839 5.63 4 Centrosome;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_O95758 59690 552 9.13 9 Nucleus NA 0 PE1 -NX_O95759 130835 1140 5.32 2 Nucleus NA 0 PE1 -NX_O95760 30759 270 8.89 9 Secretory vesicle;Cytosol;Secreted;Nucleus;Chromosome;Nucleoplasm NA 0 PE1 -NX_O95772 26655 234 4.75 7 Cytoplasmic vesicle;Late endosome membrane NA 4 PE1 -NX_O95777 10403 96 4.34 7 Cytoplasmic vesicle;Nucleus;Nucleoplasm NA 0 PE1 -NX_O95780 58361 498 9.22 19 Golgi apparatus;Nucleus NA 0 PE2 -NX_O95782 107546 977 6.63 19 Cytoplasmic vesicle;Cell membrane;Coated pit NA 0 PE1 -NX_O95785 178674 1651 6.4 19 Nucleus;Midbody;Nucleoplasm NA 0 PE1 -NX_O95786 106600 925 6.03 9 Cytosol;Cytoskeleton;Tight junction;Cytoplasm;Ruffle membrane Singleton-Merten syndrome 2 0 PE1 -NX_O95789 148089 1325 8.59 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_O95793 63182 577 9.46 20 Cytosol;Cytoplasm;Rough endoplasmic reticulum;Cytoplasm NA 0 PE1 -NX_O95800 59359 540 9.28 2 Cell membrane NA 7 PE1 -NX_O95801 44679 387 5.43 1 Nucleus speckle;Cytosol NA 0 PE1 -NX_O95803 100902 873 8.21 4 Golgi apparatus membrane NA 1 PE2 -NX_O95807 17400 157 5.57 1 Endoplasmic reticulum;Cell membrane;Cytosol;Membrane;Cytoskeleton NA 4 PE1 -NX_O95810 47173 425 5.14 2 Cytosol;Cell membrane;Cytosol;Caveola NA 0 PE1 -NX_O95813 30084 267 7.7 9 Secreted NA 0 PE1 -NX_O95816 23772 211 6.25 6 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_O95817 61595 575 6.46 10 Cytoplasm;Nucleus;Cytoplasm;Cytosol;Cell membrane Cardiomyopathy, dilated 1HH;Myopathy, myofibrillar, 6 0 PE1 -NX_O95819 142101 1239 7.09 2 Cytoplasm NA 0 PE1 -NX_O95822 55003 493 9.11 16 Cytoplasm;Mitochondrion matrix;Peroxisome;Peroxisome matrix Malonyl-CoA decarboxylase deficiency 0 PE1 -NX_O95825 38697 349 5.49 21 Nucleoplasm;Cytosol NA 0 PE1 -NX_O95831 66901 613 9.04 X Mitochondrion intermembrane space;Mitochondrion inner membrane;Cytoplasm;Nucleus;Perinuclear region Cowchock syndrome;Combined oxidative phosphorylation deficiency 6;Deafness, X-linked, 5 0 PE1 -NX_O95832 22744 211 8.41 3 Basolateral cell membrane;Tight junction;Cell membrane Ichthyosis-sclerosing cholangitis neonatal syndrome 4 PE1 -NX_O95833 26648 236 5.99 9 Nucleus;Membrane;Cytoplasm;Nucleus NA 1 PE1 -NX_O95834 70679 649 5.86 19 Spindle;Cytoskeleton;Cytoplasmic vesicle NA 0 PE1 -NX_O95835 126870 1130 8.84 6 Centrosome;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_O95837 41571 355 5.81 9 NA NA 0 PE1 -NX_O95838 63001 553 9.1 17 Cell membrane;Cell membrane NA 7 PE2 -NX_O95841 56720 491 8.42 1 Secreted NA 0 PE1 -NX_O95843 23822 209 4.95 3 NA NA 0 PE1 -NX_O95847 36064 323 9.15 6 Mitochondrion;Mitochondrion inner membrane NA 6 PE1 -NX_O95848 24118 222 4.95 14 Nucleolus;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_O95857 22147 204 8.27 7 Nucleus;Membrane NA 4 PE1 -NX_O95858 33165 294 5.3 10 Cell membrane;Cytosol;Nucleoplasm;Late endosome membrane NA 4 PE1 -NX_O95859 35383 305 5.72 7 Cytoskeleton;Cytoplasmic vesicle;Cell membrane Vitreoretinopathy, exudative 5 4 PE1 -NX_O95861 33392 308 5.46 1 Nucleus speckle NA 0 PE1 -NX_O95863 29083 264 8.97 20 Nucleus;Cytoplasm;Cytosol;Nucleus NA 0 PE1 -NX_O95864 52259 444 8.86 11 Endoplasmic reticulum membrane NA 4 PE1 -NX_O95865 29644 285 5.66 6 Microtubule organizing center;Mitochondrion;Cytoplasm;Cytosol NA 0 PE1 -NX_O95866 26163 241 9.68 6 Golgi apparatus;Endoplasmic reticulum;Golgi apparatus;Cell membrane Thrombocytopenia, anemia, and myelofibrosis 1 PE1 -NX_O95867 13821 125 8.53 6 Cell membrane NA 0 PE1 -NX_O95868 13691 133 6.56 6 Filopodium;Cell membrane NA 0 PE1 -NX_O95870 63243 558 8.39 6 Membrane NA 2 PE1 -NX_O95872 39314 356 8.36 6 Endoplasmic reticulum NA 0 PE1 -NX_O95873 31710 294 5.95 6 Cytosol NA 0 PE1 -NX_O95876 85084 746 5.97 2 Cell junction;Cell membrane;Cilium axoneme;Cilium basal body Bardet-Biedl syndrome 15;Congenital heart defects, hamartomas of tongue, and polysyndactyly 0 PE1 -NX_O95881 19206 172 5.25 1 Endoplasmic reticulum lumen NA 0 PE1 -NX_O95886 106040 979 8.99 1 Cell membrane;Postsynaptic density;Synapse NA 0 PE1 -NX_O95897 51386 454 8.06 19 Secreted;Synapse;Nucleoplasm;Membrane;Nucleus;Cytoplasm NA 0 PE1 -NX_O95900 36694 331 9.12 9 Cytosol;Mitochondrion matrix NA 0 PE1 -NX_O95905 72758 644 4.75 10 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_O95907 52319 504 5.53 22 Cell membrane;Focal adhesion;Cytoskeleton NA 12 PE1 -NX_O95918 34763 312 8.51 6 Cell membrane NA 7 PE2 -NX_O95922 48988 423 8.87 22 Mitochondrion;Cytoskeleton;Nucleolus NA 0 PE1 -NX_O95925 15284 133 8.52 20 Cell surface;Secreted NA 0 PE1 -NX_O95926 28722 243 8.38 1 Nucleus;Nucleus;Nucleus speckle NA 0 PE1 -NX_O95931 28341 251 9.46 22 Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_O95932 79312 706 6.85 20 Cytoplasm Spinocerebellar ataxia 35 0 PE1 -NX_O95935 64753 607 8.98 6 Nucleus Congenital anomalies of kidney and urinary tract 2 0 PE1 -NX_O95936 72732 686 6.94 3 Nucleus NA 0 PE1 -NX_O95944 30677 276 8.15 6 Cell membrane NA 1 PE1 -NX_O95947 47045 436 8.16 16 Nucleus Spondylocostal dysostosis 5 0 PE1 -NX_O95948 54303 504 9.65 18 Nucleoplasm;Nucleus;Cytoskeleton NA 0 PE1 -NX_O95954 58927 541 5.58 21 Centriole;Golgi apparatus;Cell membrane;Cytosol Glutamate formiminotransferase deficiency 0 PE1 -NX_O95965 53921 494 5.39 13 Secreted NA 0 PE1 -NX_O95967 49405 443 4.79 11 Secreted Cutis laxa, autosomal recessive, 1B 0 PE1 -NX_O95968 9898 90 9.41 11 Secreted NA 0 PE1 -NX_O95969 9925 90 8.58 11 Secreted NA 0 PE1 -NX_O95970 63818 557 8.5 10 Secreted;Synapse Epilepsy, familial temporal lobe, 1 0 PE1 -NX_O95971 19810 181 6.94 1 Cell membrane NA 0 PE1 -NX_O95972 45055 392 9.28 X Secreted Premature ovarian failure 4;Ovarian dysgenesis 2 0 PE1 -NX_O95976 27013 241 8.93 16 Membrane NA 1 PE1 -NX_O95977 41623 384 10.04 19 Mitochondrion;Cell membrane NA 7 PE1 -NX_O95980 106457 971 6.35 9 Cell membrane;Cell membrane NA 0 PE1 -NX_O95983 32844 291 5.22 19 Nucleus;Chromosome;Nucleoplasm NA 0 PE1 -NX_O95985 96662 862 8.47 22 Cytoplasmic vesicle NA 0 PE1 -NX_O95988 14846 128 6.84 14 Cytosol NA 0 PE1 -NX_O95989 19471 172 5.99 6 Cytoplasm NA 0 PE1 -NX_O95990 17455 144 9.71 3 Nucleus;Nucleus speckle;Nucleus NA 0 PE1 -NX_O95992 31745 272 6.77 10 Endoplasmic reticulum membrane NA 3 PE1 -NX_O95994 19979 175 9.03 7 Cytosol;Endoplasmic reticulum;Secreted NA 0 PE1 -NX_O95995 56356 478 7.72 16 Cytoskeleton;Flagellum;Cilium axoneme;Cilium basal body;Golgi apparatus;Cytoplasm;Cell membrane;Cytosol Ciliary dyskinesia, primary, 33 0 PE1 -NX_O95996 243949 2303 9.08 19 Cytoskeleton;Cytosol;Midbody ring;Cytoskeleton;Golgi apparatus;Cytoplasm;Perinuclear region Sotos syndrome 3 0 PE1 -NX_O95997 22024 202 6.18 5 Cytoplasm;Nucleus NA 0 PE1 -NX_O95998 21099 194 6.99 11 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_O95999 26252 233 5.57 1 Nucleoplasm;Perinuclear region;Membrane raft Immunodeficiency 37;Lymphoma, mucosa-associated lymphoid type 0 PE1 -NX_O96000 20777 172 8.72 16 Mitochondrion inner membrane NA 0 PE1 -NX_O96001 17866 155 8.48 7 NA NA 0 PE1 -NX_O96002 13452 111 9.61 X Membrane NA 2 PE5 -NX_O96004 23627 215 9.69 5 Nucleoplasm;Nucleolus;Nucleus membrane;Nucleus NA 0 PE2 -NX_O96005 76097 669 5.88 19 Cell membrane;Golgi apparatus;Endoplasmic reticulum;Nucleus membrane;Membrane;Microtubule organizing center NA 5 PE1 -NX_O96006 78156 694 5.79 X Centrosome;Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 -NX_O96007 20944 188 5.35 5 Cytosol;Nucleus;Cytosol Molybdenum cofactor deficiency, complementation group B 0 PE1 -NX_O96008 37893 361 6.79 19 Mitochondrion outer membrane;Cytosol;Mitochondrion NA 0 PE1 -NX_O96009 45387 420 6.15 19 Secreted NA 0 PE1 -NX_O96011 28431 259 9.91 1 Peroxisome membrane Peroxisome biogenesis disorder 14B 1 PE1 -NX_O96013 64072 591 9.76 19 Cell membrane;Cell junction;Cytoplasm NA 0 PE1 -NX_O96014 39179 354 9.05 11 Extracellular matrix;Centrosome;Cytosol NA 0 PE1 -NX_O96015 12009 105 5.36 22 Cytosol;Cilium axoneme;Nucleus;Centrosome;Nucleolus Mirror movements 3 0 PE1 -NX_O96017 60915 543 5.65 22 Nucleus;PML body;Nucleoplasm;Golgi apparatus;Nucleoplasm Osteogenic sarcoma;Li-Fraumeni syndrome 2;Breast cancer;Prostate cancer 0 PE1 -NX_O96018 61454 575 4.83 19 Perinuclear region;Cytoplasmic vesicle NA 0 PE1 -NX_O96019 47461 429 5.39 3 Cell membrane;Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_O96020 46757 404 7.95 8 Nucleus NA 0 PE1 -NX_O96024 41537 378 8.63 6 Golgi apparatus membrane NA 1 PE1 -NX_O96028 152258 1365 9 4 Nucleus;Nucleus;Chromosome;Cytoplasm NA 0 PE1 -NX_O96033 9755 88 4.67 5 Cytosol Molybdenum cofactor deficiency, complementation group B 0 PE1 -NX_O97980 4965 41 4.95 5 NA NA 0 PE1 -NX_P00156 42718 380 7.83 MT Mitochondrion inner membrane;Mitochondrion Leber hereditary optic neuropathy;Cardiomyopathy, infantile histiocytoid 8 PE1 -NX_P00167 15330 134 4.88 18 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cytosol;Microsome membrane;Cytoplasm Methemoglobinemia CYB5A-related 1 PE1 -NX_P00325 39855 375 8.63 4 Cytoplasm NA 0 PE1 -NX_P00326 39868 375 8.63 4 Cytoplasm NA 0 PE1 -NX_P00338 36689 332 8.44 11 Cytoplasm;Cytosol;Cytoplasm;Cytoplasmic vesicle Glycogen storage disease 11 0 PE1 -NX_P00352 54862 501 6.3 9 Cytosol;Cytosol NA 0 PE1 -NX_P00367 61398 558 7.66 10 Mitochondrion matrix Familial hyperinsulinemic hypoglycemia 6 0 PE1 -NX_P00374 21453 187 6.85 5 Mitochondrion;Cytoplasm Megaloblastic anemia due to dihydrofolate reductase deficiency 0 PE1 -NX_P00387 34235 301 7.18 22 Endoplasmic reticulum;Mitochondrion outer membrane;Endoplasmic reticulum membrane;Cytoplasm Methemoglobinemia CYB5R3-related 0 PE1 -NX_P00390 56257 522 8.74 8 Cytosol;Mitochondrion;Cytoplasm;Cell membrane NA 0 PE1 -NX_P00395 57041 513 6.19 MT Mitochondrion inner membrane;Mitochondrion Leber hereditary optic neuropathy;Recurrent myoglobinuria mitochondrial;Deafness, sensorineural, mitochondrial;Colorectal cancer;Mitochondrial complex IV deficiency 12 PE1 -NX_P00403 25565 227 4.67 MT Mitochondrion inner membrane Mitochondrial complex IV deficiency 2 PE1 -NX_P00414 29951 261 6.78 MT Nucleoplasm;Mitochondrion inner membrane Recurrent myoglobinuria mitochondrial;Leber hereditary optic neuropathy;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Mitochondrial complex IV deficiency 7 PE1 -NX_P00439 51862 452 6.15 12 Endoplasmic reticulum;Cytoplasmic vesicle Hyperphenylalaninemia;Non-phenylketonuria hyperphenylalaninemia;Phenylketonuria 0 PE1 -NX_P00441 15936 154 5.7 21 Cytoplasm;Nucleus;Cytosol;Cell membrane;Nucleus;Mitochondrion Amyotrophic lateral sclerosis 1 0 PE1 -NX_P00450 122205 1065 5.44 3 Secreted Aceruloplasminemia 0 PE1 -NX_P00451 267009 2351 6.95 X Extracellular space Hemophilia A 0 PE1 -NX_P00480 39935 354 8.75 X Mitochondrion;Mitochondrion matrix Ornithine carbamoyltransferase deficiency 0 PE1 -NX_P00488 83267 732 5.75 6 Cytoplasm;Secreted Factor XIII subunit A deficiency 0 PE1 -NX_P00491 32118 289 6.45 14 Cytoskeleton;Cytoplasm Purine nucleoside phosphorylase deficiency 0 PE1 -NX_P00492 24579 218 6.21 X Nucleus;Cytoplasm;Cytosol;Cytoplasm Gout HPRT-related;Lesch-Nyhan syndrome 0 PE1 -NX_P00505 47518 430 9.14 16 Mitochondrion matrix;Cell membrane NA 0 PE1 -NX_P00519 122873 1130 8.84 9 Nucleus;Cytoskeleton;Nucleus;Nucleoplasm;Nucleus membrane;Mitochondrion Congenital heart defects and skeletal malformations syndrome;Leukemia, chronic myeloid 0 PE1 -NX_P00533 134277 1210 6.26 7 Nucleus;Cell membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane;Secreted;Nucleus membrane;Endosome;Endosome membrane Lung cancer;Inflammatory skin and bowel disease, neonatal, 2 1 PE1 -NX_P00540 37820 346 9.15 8 NA NA 0 PE1 -NX_P00558 44615 417 8.3 X Cytoplasm;Cytoplasm Phosphoglycerate kinase 1 deficiency 0 PE1 -NX_P00568 21635 194 8.73 9 Cytoplasm;Cytosol Hemolytic anemia due to adenylate kinase deficiency 0 PE1 -NX_P00709 16225 142 4.83 12 Secreted NA 0 PE1 -NX_P00734 70037 622 5.64 11 Extracellular space Ischemic stroke;Thrombophilia due to thrombin defect;Factor II deficiency;Pregnancy loss, recurrent, 2 0 PE1 -NX_P00736 80119 705 5.82 12 Cytosol;Nucleoplasm;Secreted Ehlers-Danlos syndrome, periodontal type, 1 0 PE1 -NX_P00738 45205 406 6.13 16 Secreted Anhaptoglobinemia 0 PE1 -NX_P00739 39030 348 6.63 16 Secreted NA 0 PE1 -NX_P00740 51778 461 5.34 X Secreted Hemophilia B;Thrombophilia, X-linked, due to factor IX defect 0 PE1 -NX_P00742 54732 488 5.68 13 Secreted Factor X deficiency 0 PE1 -NX_P00746 27033 253 7.65 19 Cell membrane;Secreted Complement factor D deficiency 0 PE1 -NX_P00747 90569 810 7.04 6 Secreted Plasminogen deficiency 0 PE1 -NX_P00748 67792 615 8.04 5 Secreted Factor XII deficiency;Hereditary angioedema 3 0 PE1 -NX_P00749 48507 431 8.78 10 Secreted;Cytosol;Cell membrane Quebec platelet disorder 0 PE1 -NX_P00750 62917 562 8.14 8 Cytoskeleton;Extracellular space NA 0 PE1 -NX_P00751 85533 764 6.67 6 Cytoplasmic vesicle;Cell junction;Secreted Hemolytic uremic syndrome atypical 4;Complement factor B deficiency 0 PE1 -NX_P00797 45057 406 6.61 1 Secreted;Membrane Renal tubular dysgenesis;Familial juvenile hyperuricemic nephropathy 2 0 PE1 -NX_P00813 40764 363 5.63 20 Cell membrane;Cell junction;Cytoplasmic vesicle lumen;Cytoplasm;Lysosome Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency 0 PE1 -NX_P00846 24817 226 10.09 MT Mitochondrion inner membrane Leigh syndrome;Myopathy, lactic acidosis, and sideroblastic anemia 3;Neuropathy, ataxia, and retinitis pigmentosa;Mitochondrial infantile bilateral striatal necrosis;Mitochondrial complex V deficiency, mitochondrial 1;Leber hereditary optic neuropathy;Ataxia and polyneuropathy, adult-onset;Cardiomyopathy, infantile hypertrophic 6 PE1 -NX_P00915 28870 261 6.59 8 Cytoplasm NA 0 PE1 -NX_P00918 29246 260 6.87 8 Cell membrane;Cytoplasm Osteopetrosis, autosomal recessive 3 0 PE1 -NX_P00966 46530 412 8.08 9 Nucleoplasm;Cytosol;Cytosol Citrullinemia 1 0 PE1 -NX_P00973 46029 400 8.51 12 Mitochondrion;Cytoplasm;Cytosol;Nucleus;Secreted;Microsome;Endoplasmic reticulum NA 0 PE1 -NX_P00995 8507 79 7.54 5 Secreted Tropical calcific pancreatitis;Pancreatitis, hereditary 0 PE1 -NX_P01008 52602 464 6.32 1 Extracellular space Antithrombin III deficiency 0 PE1 -NX_P01009 46737 418 5.37 14 Extracellular matrix;Cytoplasmic vesicle;Endoplasmic reticulum;Secreted Alpha-1-antitrypsin deficiency 0 PE1 -NX_P01011 47651 423 5.33 14 Secreted NA 0 PE1 -NX_P01019 53154 485 5.87 1 Secreted Essential hypertension;Renal tubular dysgenesis 0 PE1 -NX_P01023 163291 1474 6.03 12 Secreted NA 0 PE1 -NX_P01024 187148 1663 6.02 19 Secreted Hemolytic uremic syndrome atypical 5;Macular degeneration, age-related, 9;Complement component 3 deficiency 0 PE1 -NX_P01031 188305 1676 6.11 9 Secreted Complement component 5 deficiency 0 PE1 -NX_P01033 23171 207 8.46 X Golgi apparatus;Secreted NA 0 PE1 -NX_P01034 15799 146 9 20 Cytoplasmic vesicle;Secreted;Golgi apparatus Macular degeneration, age-related, 11;Amyloidosis 6 0 PE1 -NX_P01036 16214 141 4.95 20 Secreted NA 0 PE1 -NX_P01037 16388 141 6.73 20 Secreted NA 0 PE1 -NX_P01040 11006 98 5.38 3 Cytosol;Nucleus;Cytoplasm Peeling skin syndrome 4 0 PE1 -NX_P01042 71957 644 6.34 3 Extracellular space High molecular weight kininogen deficiency 0 PE1 -NX_P01100 40695 380 4.77 14 Nucleus;Nucleoplasm;Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_P01106 48804 439 5.33 8 Nucleoplasm;Nucleolus;Nucleoplasm Burkitt lymphoma 0 PE1 -NX_P01111 21229 189 5.01 1 Cell membrane;Golgi apparatus membrane Melanosis, neurocutaneous;Leukemia, juvenile myelomonocytic;Noonan syndrome 6;Melanocytic nevus syndrome, congenital;Keratinocytic non-epidermolytic nevus;Thyroid cancer, non-medullary, 2;RAS-associated autoimmune leukoproliferative disorder 0 PE1 -NX_P01112 21298 189 5.16 11 Perinuclear region;Nucleus;Cytoplasm;Golgi apparatus membrane;Golgi apparatus;Cell membrane;Cell membrane Congenital myopathy with excess of muscle spindles;Costello syndrome;Schimmelpenning-Feuerstein-Mims syndrome;Bladder cancer;Thyroid cancer, non-medullary, 2 0 PE1 -NX_P01116 21656 189 6.33 12 Cytosol;Cell membrane Leukemia, juvenile myelomonocytic;Cardiofaciocutaneous syndrome 2;Leukemia, acute myelogenous;Gastric cancer;Noonan syndrome 3 0 PE1 -NX_P01127 27283 241 9.39 22 Cytoplasmic vesicle;Secreted Basal ganglia calcification, idiopathic, 5 0 PE1 -NX_P01130 95376 860 4.86 19 Late endosome;Lysosome;Cell membrane;Clathrin-coated pit;Golgi apparatus;Early endosome Familial hypercholesterolemia 1 PE1 -NX_P01133 133994 1207 5.53 4 Membrane Hypomagnesemia 4 1 PE1 -NX_P01135 17006 160 7.51 2 Cell membrane;Extracellular space;Cytoplasmic vesicle NA 1 PE1 -NX_P01137 44341 390 8.83 19 Cytosol;Extracellular matrix Camurati-Engelmann disease 0 PE1 -NX_P01138 26959 241 9.94 1 Secreted Neuropathy, hereditary sensory and autonomic, 5 0 PE1 -NX_P01148 10380 92 6.1 8 Secreted Hypogonadotropic hypogonadism 12 with or without anosmia 0 PE1 -NX_P01160 16708 153 6.59 1 Secreted Atrial fibrillation, familial, 6;Atrial standstill 2 0 PE1 -NX_P01178 12722 125 5.72 20 Secreted NA 0 PE1 -NX_P01185 17325 164 5.2 20 Secreted Diabetes insipidus, neurohypophyseal 0 PE1 -NX_P01189 29424 267 7.57 2 Secreted Obesity;Pro-opiomelanocortinin deficiency 0 PE1 -NX_P01210 30787 267 5.44 8 Secreted NA 0 PE1 -NX_P01213 28385 254 6.07 20 Secreted Spinocerebellar ataxia 23 0 PE1 -NX_P01215 13075 116 8.54 6 Secreted NA 0 PE1 -NX_P01222 15639 138 7.92 1 Secreted NA 0 PE1 -NX_P01225 14700 129 6.77 11 Secreted Hypogonadotropic hypogonadism 24 without anosmia 0 PE1 -NX_P01229 15345 141 8 19 Secreted Hypogonadotropic hypogonadism 23 without anosmia 0 PE1 -NX_P01236 25876 227 6.5 6 Secreted;Cytosol NA 0 PE1 -NX_P01241 24847 217 5.29 17 Secreted Growth hormone deficiency, isolated, 1A;Growth hormone deficiency, isolated, 2;Growth hormone deficiency, isolated, 1B;Kowarski syndrome 0 PE1 -NX_P01242 25000 217 7.59 17 Secreted NA 0 PE1 -NX_P01258 15466 141 6.06 11 Secreted NA 0 PE1 -NX_P01266 304790 2768 5.4 8 Secreted Autoimmune thyroid disease 3;Thyroid dyshormonogenesis 3 0 PE1 -NX_P01270 12861 115 9.72 11 Secreted Hypoparathyroidism, familial isolated 0 PE1 -NX_P01275 20909 180 5.85 2 Golgi apparatus;Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_P01282 19169 170 6.15 6 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_P01286 12447 108 10.54 20 Secreted NA 0 PE1 -NX_P01298 10445 95 6.71 17 Secreted NA 0 PE1 -NX_P01303 10851 97 6.57 7 Golgi apparatus;Secreted NA 0 PE1 -NX_P01308 11981 110 5.22 11 Secreted Diabetes mellitus, permanent neonatal;Maturity-onset diabetes of the young 10;Diabetes mellitus, insulin-dependent, 2;Hyperproinsulinemia 0 PE1 -NX_P01344 20140 180 9.5 11 Nucleoplasm;Cytoplasmic vesicle;Secreted Growth restriction, severe, with distinctive facies;Silver-Russell syndrome 0 PE1 -NX_P01350 11394 101 5.08 17 Secreted NA 0 PE1 -NX_P01374 22297 205 9.1 6 Membrane;Secreted Psoriatic arthritis 0 PE1 -NX_P01375 25644 233 6.44 6 Secreted;Membrane;Secreted;Secreted;Cell membrane Psoriatic arthritis 1 PE1 -NX_P01562 21725 189 5.32 9 Secreted NA 0 PE1 -NX_P01563 21550 188 6.32 9 Secreted NA 0 PE1 -NX_P01566 21835 189 5.97 9 Secreted NA 0 PE1 -NX_P01567 22107 189 6.44 9 Secreted NA 0 PE1 -NX_P01568 21741 189 6.33 9 Secreted NA 0 PE1 -NX_P01569 21942 189 5.68 9 Secreted NA 0 PE1 -NX_P01570 22063 189 6.83 9 Secreted NA 0 PE1 -NX_P01571 21728 189 5.68 9 Secreted NA 0 PE1 -NX_P01574 22294 187 8.93 9 Secreted NA 0 PE1 -NX_P01579 19348 166 9.5 12 Secreted Aplastic anemia 0 PE1 -NX_P01583 30607 271 5.04 2 Secreted NA 0 PE1 -NX_P01584 30748 269 4.7 2 Cytosol;Lysosome;Exosome;Secreted NA 0 PE1 -NX_P01588 21307 193 8.3 7 Secreted Microvascular complications of diabetes 2 0 PE1 -NX_P01589 30819 272 6.11 10 Membrane Immunodeficiency 41 with lymphoproliferation and autoimmunity;Diabetes mellitus, insulin-dependent, 10 1 PE1 -NX_P01591 18099 159 5.12 4 Secreted NA 0 PE1 -NX_P01593 12848 117 4.53 2 Cell membrane;Secreted NA 0 PE1 -NX_P01594 12848 117 4.53 2 Secreted;Cell membrane NA 0 PE1 -NX_P01597 12737 117 8.91 2 Secreted;Cell membrane NA 0 PE1 -NX_P01599 12779 117 8.93 2 Cell membrane;Secreted NA 0 PE1 -NX_P01601 12730 117 7.62 2 Cell membrane;Secreted NA 0 PE1 -NX_P01602 12782 117 8.49 2 Secreted;Cell membrane NA 0 PE1 -NX_P01611 12620 117 7.69 2 Secreted;Cell membrane NA 0 PE1 -NX_P01614 13310 121 4.43 2 Secreted;Cell membrane NA 0 PE1 -NX_P01615 12957 120 5.61 2 Secreted;Cell membrane NA 0 PE1 -NX_P01619 12557 116 4.85 2 Secreted;Cell membrane NA 0 PE1 -NX_P01624 12496 115 5.14 2 Secreted;Cell membrane NA 0 PE1 -NX_P01699 12201 117 4.94 22 Cell membrane;Secreted NA 0 PE1 -NX_P01700 12284 117 5.55 22 Secreted;Cell membrane NA 0 PE1 -NX_P01701 12249 117 6.5 22 Secreted;Cell membrane NA 0 PE1 -NX_P01703 12302 118 5.39 22 Cell membrane;Secreted NA 0 PE1 -NX_P01704 12597 120 6 22 Secreted;Cell membrane NA 0 PE1 -NX_P01705 11893 113 5.59 22 Secreted;Cell membrane NA 0 PE1 -NX_P01706 12644 119 6.69 22 Cell membrane;Secreted NA 0 PE1 -NX_P01709 12382 118 5.59 22 Secreted;Cell membrane NA 0 PE1 -NX_P01714 12042 112 4.76 22 Secreted;Cell membrane NA 0 PE1 -NX_P01715 12296 115 4.75 22 Secreted;Cell membrane NA 0 PE1 -NX_P01717 12011 112 4.37 22 Secreted;Cell membrane NA 0 PE1 -NX_P01718 12165 113 4.89 22 Secreted;Cell membrane NA 0 PE1 -NX_P01721 12566 117 4.59 22 Secreted;Cell membrane NA 0 PE1 -NX_P01730 51111 458 9.6 12 Cell membrane;Cell membrane NA 1 PE1 -NX_P01732 25729 235 9.64 2 Cell membrane;Secreted CD8 deficiency, familial 1 PE1 -NX_P01733 15097 135 6.26 7 NA NA 0 PE1 -NX_P01737 14708 135 7.79 14 NA NA 0 PE1 -NX_P01742 12659 117 9.26 14 Secreted;Cell membrane NA 0 PE1 -NX_P01743 12933 117 9.1 14 Secreted;Cell membrane NA 0 PE1 -NX_P01762 12909 117 8.82 14 Secreted;Cell membrane NA 0 PE1 -NX_P01763 12813 117 5.31 14 Secreted;Cell membrane NA 0 PE1 -NX_P01764 12582 117 8.49 14 Secreted;Cell membrane NA 0 PE1 -NX_P01766 12506 116 6.54 14 Cell membrane;Secreted NA 0 PE1 -NX_P01767 12770 116 8.49 14 Secreted;Cell membrane NA 0 PE1 -NX_P01768 12947 117 9.1 14 Secreted;Cell membrane NA 0 PE1 -NX_P01772 13074 117 9.12 14 Secreted;Cell membrane NA 0 PE1 -NX_P01780 12943 117 6.21 14 Secreted;Cell membrane NA 0 PE1 -NX_P01782 12945 118 6.55 14 Secreted;Cell membrane NA 0 PE1 -NX_P01814 13260 119 6.1 14 Secreted;Cell membrane NA 0 PE1 -NX_P01817 13231 119 8.49 14 Secreted;Cell membrane NA 0 PE1 -NX_P01824 13917 125 9.35 14 Secreted;Cell membrane NA 0 PE1 -NX_P01825 12936 116 9.36 14 Secreted;Cell membrane NA 0 PE1 -NX_P01833 83284 764 5.59 1 Nucleolus;Cytosol;Nucleus;Cell membrane;Secreted NA 1 PE1 -NX_P01834 11765 107 6.11 2 Secreted;Cell membrane Immunoglobulin kappa light chain deficiency 0 PE1 -NX_P01848 15928 142 4.58 14 Membrane Immunodeficiency 7 1 PE1 -NX_P01850 19899 177 5.56 7 Membrane NA 1 PE1 -NX_P01854 47019 428 8.39 14 Secreted;Cell membrane NA 0 PE1 -NX_P01857 36106 330 8.46 14 Secreted;Cell membrane Multiple myeloma 0 PE1 -NX_P01859 35901 326 7.66 14 Secreted;Cell membrane NA 0 PE1 -NX_P01860 41287 377 8.23 14 Secreted;Cell membrane NA 0 PE1 -NX_P01861 35941 327 7.18 14 Secreted;Cell membrane NA 0 PE1 -NX_P01871 49440 453 6.35 14 Cell membrane;Secreted Agammaglobulinemia 1, autosomal recessive 0 PE1 -NX_P01876 37655 353 6.08 14 Cell membrane;Secreted NA 0 PE1 -NX_P01877 36591 340 5.86 14 Cell membrane;Secreted NA 0 PE1 -NX_P01880 42353 384 8.38 14 Secreted;Cell membrane NA 0 PE1 -NX_P01889 40460 362 5.57 6 Membrane NA 1 PE1 -NX_P01891 40909 365 6.22 6 Membrane NA 1 PE1 -NX_P01892 40922 365 6.5 6 Membrane NA 1 PE1 -NX_P01893 40892 362 5.91 6 Cell membrane NA 1 PE5 -NX_P01903 28607 254 4.91 6 trans-Golgi network membrane;Late endosome membrane;Lysosome membrane;Endosome membrane;Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 -NX_P01906 28033 255 4.78 6 Cell membrane;Endoplasmic reticulum membrane;Endosome membrane;Lysosome membrane;trans-Golgi network membrane NA 1 PE1 -NX_P01909 27805 254 5.44 6 Cell membrane;trans-Golgi network membrane;Endoplasmic reticulum membrane;Lysosome membrane;Endosome membrane NA 1 PE1 -NX_P01911 29966 266 7.64 6 Lysosome membrane;Late endosome membrane;Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane NA 1 PE1 -NX_P01912 30120 266 8.21 6 Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane;Late endosome membrane NA 1 PE1 -NX_P01920 29991 261 6.76 6 Golgi apparatus;Lysosome membrane;trans-Golgi network membrane;Endosome membrane;Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 -NX_P02008 15637 142 7.94 16 NA NA 0 PE1 -NX_P02042 16055 147 7.84 11 NA NA 0 PE1 -NX_P02100 16203 147 8.67 11 NA NA 0 PE1 -NX_P02144 17184 154 7.14 22 NA NA 0 PE1 -NX_P02452 138941 1464 5.6 17 Cytosol;Cytoplasmic vesicle;Extracellular matrix Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome 7A;Osteoporosis;Osteogenesis imperfecta 4;Osteogenesis imperfecta 1;Osteogenesis imperfecta 3;Osteogenesis imperfecta 2;Caffey disease 0 PE1 -NX_P02458 141785 1487 6.58 12 Nucleoplasm;Extracellular matrix Spondyloperipheral dysplasia;Platyspondylic lethal skeletal dysplasia Torrance type;Spondyloepiphyseal dysplasia congenital type;Spondyloepimetaphyseal dysplasia, Strudwick type;Legg-Calve-Perthes disease;Kniest dysplasia;Osteoarthritis with mild chondrodysplasia;Avascular necrosis of femoral head, primary, 1;Czech dysplasia;Rhegmatogenous retinal detachment autosomal dominant;Spondyloepiphyseal dysplasia, Stanescu type;Stickler syndrome 1;Stickler syndrome 1 non-syndromic ocular;Achondrogenesis 2;Multiple epiphyseal dysplasia with myopia and conductive deafness 0 PE1 -NX_P02461 138564 1466 6.21 2 Extracellular matrix Ehlers-Danlos syndrome 3;Ehlers-Danlos syndrome 4 0 PE1 -NX_P02462 160615 1669 8.55 13 Cytosol;Nucleoplasm;Basement membrane Hereditary angiopathy with nephropathy aneurysms and muscle cramps;Brain small vessel disease with or without ocular anomalies;Schizencephaly;Porencephaly 1;Intracerebral hemorrhage;Tortuosity of retinal arteries 0 PE1 -NX_P02489 19909 173 5.77 21 Nucleus;Cytosol;Nucleoplasm;Cytoplasm Cataract 9, multiple types 0 PE1 -NX_P02511 20159 175 6.76 11 Cell membrane;Cytosol;Nucleus;Cytoplasm Cataract 16, multiple types;Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related;Myopathy, myofibrillar, 2;Cardiomyopathy, dilated 1II 0 PE1 -NX_P02533 51561 472 5.09 17 Nucleus;Cytoplasm Epidermolysis bullosa simplex, Weber-Cockayne type;Dermatopathia pigmentosa reticularis;Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, autosomal recessive 1;Epidermolysis bullosa simplex, Dowling-Meara type;Naegeli-Franceschetti-Jadassohn syndrome 0 PE1 -NX_P02538 60045 564 8.09 12 NA Pachyonychia congenita 3 0 PE1 -NX_P02545 74139 664 6.57 1 Nucleus;Nucleus;Nucleus envelope;Nucleus lamina;Nucleoplasm;Nucleus speckle Cardiomyopathy, dilated 1A;Emery-Dreifuss muscular dystrophy 3, autosomal recessive;Mandibuloacral dysplasia with type A lipodystrophy;Lipodystrophy, familial partial, 2;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Cardiomyopathy, dilated, with hypergonadotropic hypogonadism;Lethal tight skin contracture syndrome;Hutchinson-Gilford progeria syndrome;Limb-girdle muscular dystrophy 1B;Heart-hand syndrome Slovenian type;Muscular dystrophy congenital LMNA-related;Charcot-Marie-Tooth disease 2B1 0 PE1 -NX_P02549 280014 2419 4.95 1 Cytoskeleton;Cell cortex Spherocytosis 3;Elliptocytosis 2;Hereditary pyropoikilocytosis 0 PE1 -NX_P02585 18122 160 4.06 20 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_P02647 30778 267 5.56 11 Cytosol;Secreted;Cytoplasmic vesicle High density lipoprotein deficiency 1;High density lipoprotein deficiency 2;Amyloidosis 8 0 PE1 -NX_P02649 36154 317 5.65 19 Cytoplasmic vesicle;Secreted Hyperlipoproteinemia 3;Familial hypercholesterolemia;Sea-blue histiocyte disease;Alzheimer disease 2;Lipoprotein glomerulopathy 0 PE1 -NX_P02652 11175 100 6.27 1 Secreted NA 0 PE1 -NX_P02654 9332 83 8.01 19 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_P02655 11284 101 4.72 19 Secreted Hyperlipoproteinemia 1B 0 PE1 -NX_P02656 10852 99 5.23 11 Secreted Hyperalphalipoproteinemia 2 0 PE1 -NX_P02671 94973 866 5.7 4 Secreted Congenital afibrinogenemia;Dysfibrinogenemia, congenital;Amyloidosis 8 0 PE1 -NX_P02675 55928 491 8.54 4 Secreted Congenital afibrinogenemia;Dysfibrinogenemia, congenital 0 PE1 -NX_P02679 51512 453 5.37 4 Secreted Congenital afibrinogenemia;Dysfibrinogenemia, congenital 0 PE1 -NX_P02686 33117 304 9.79 18 Cell membrane;Nucleus;Myelin membrane NA 0 PE1 -NX_P02689 14909 132 9.84 8 Cytoplasm NA 0 PE1 -NX_P02708 54546 482 5.78 2 Cell membrane;Cell membrane;Postsynaptic cell membrane Myasthenic syndrome, congenital, 1B, fast-channel;Myasthenic syndrome, congenital, 1A, slow-channel;Multiple pterygium syndrome, lethal type 4 PE1 -NX_P02724 16331 150 5.29 4 Cell membrane NA 1 PE1 -NX_P02730 101792 911 5.08 17 Basolateral cell membrane;Cell membrane Spherocytosis 4;Renal tubular acidosis, distal, with hemolytic anemia;Ovalocytosis, Southeast Asian;Cryohydrocytosis;Renal tubular acidosis, distal, autosomal dominant;Renal tubular acidosis, distal, with normal red cell morphology 10 PE1 -NX_P02741 25039 224 5.45 1 Secreted NA 0 PE1 -NX_P02743 25387 223 6.1 1 Secreted NA 0 PE1 -NX_P02745 26017 245 9.26 1 Secreted;Golgi apparatus;Cytosol Complement component C1q deficiency 0 PE1 -NX_P02746 26722 253 8.83 1 Secreted Complement component C1q deficiency 0 PE1 -NX_P02747 25774 245 8.61 1 Secreted;Cytoplasmic vesicle Complement component C1q deficiency 0 PE1 -NX_P02748 63173 559 5.43 5 Secreted;Target cell membrane;Cell membrane;Cytosol Macular degeneration, age-related, 15;Complement component 9 deficiency 0 PE1 -NX_P02749 38298 345 8.34 17 Golgi apparatus;Secreted NA 0 PE1 -NX_P02750 38178 347 6.45 19 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P02751 262625 2386 5.46 2 Extracellular matrix Glomerulopathy with fibronectin deposits 2 0 PE1 -NX_P02753 23010 201 5.76 10 Secreted Microphthalmia, isolated, with coloboma, 10;Retinal dystrophy, iris coloboma, and comedogenic acne syndrome 0 PE1 -NX_P02760 38999 352 5.95 9 Secreted NA 0 PE1 -NX_P02763 23512 201 4.93 9 Secreted NA 0 PE1 -NX_P02765 39325 367 5.43 3 Golgi apparatus;Secreted NA 0 PE1 -NX_P02766 15887 147 5.52 18 Golgi apparatus;Secreted;Cytoplasm Carpal tunnel syndrome 1;Amyloidosis, transthyretin-related;Hyperthyroxinemia, dystransthyretinemic 0 PE1 -NX_P02768 69367 609 5.92 4 Golgi apparatus;Endoplasmic reticulum;Secreted Hyperthyroxinemia, familial dysalbuminemic;Analbuminemia 0 PE1 -NX_P02771 68678 609 5.48 4 Secreted;Cytosol Alpha-fetoprotein deficiency;Alpha-fetoprotein, hereditary persistence 0 PE1 -NX_P02774 52964 474 5.4 4 Secreted NA 0 PE1 -NX_P02775 13894 128 9.04 4 Secreted NA 0 PE1 -NX_P02776 10845 101 8.93 4 Secreted NA 0 PE1 -NX_P02778 10881 98 9.93 4 Secreted NA 0 PE1 -NX_P02786 84871 760 6.18 3 Endosome;Lysosome;Cell membrane;Melanosome;Secreted Immunodeficiency 46 1 PE1 -NX_P02787 77064 698 6.81 3 Mitochondrion;Secreted Atransferrinemia 0 PE1 -NX_P02788 78182 710 8.5 3 Secreted;Cytoplasmic granule;Nucleus;Cytoplasm NA 0 PE1 -NX_P02790 51676 462 6.55 11 Secreted NA 0 PE1 -NX_P02792 20020 175 5.51 19 Cytosol Hyperferritinemia with or without cataract;Neurodegeneration with brain iron accumulation 3;L-ferritin deficiency 0 PE1 -NX_P02794 21226 183 5.31 11 Cytoskeleton Hemochromatosis 5 0 PE1 -NX_P02795 6042 61 8.23 16 Nucleus;Nucleolus NA 0 PE1 -NX_P02808 7304 62 8.01 4 Secreted NA 0 PE1 -NX_P02810 17016 166 4.63 12 Secreted NA 0 PE1 -NX_P02812 40799 416 11.63 12 Secreted NA 0 PE1 -NX_P02814 8188 79 9.62 4 Secreted NA 0 PE1 -NX_P02818 10963 100 6.56 1 Secreted NA 0 PE1 -NX_P03372 66216 595 8.3 6 Nucleus;Cytoplasmic vesicle;Nucleus;Cell membrane;Cytoplasm;Cell membrane;Golgi apparatus;Cell membrane Estrogen resistance 0 PE1 -NX_P03886 35661 318 6.11 MT Mitochondrion inner membrane Leber hereditary optic neuropathy;Alzheimer disease mitochondrial;Mitochondrial complex I deficiency;Diabetes mellitus, non-insulin-dependent;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome 8 PE1 -NX_P03891 38961 347 9.84 MT Mitochondrion inner membrane Alzheimer disease mitochondrial;Leber hereditary optic neuropathy 10 PE1 -NX_P03897 13186 115 4.45 MT Mitochondrion membrane;Cytosol Mitochondrial complex I deficiency;Leigh syndrome 3 PE1 -NX_P03901 10741 98 5.73 MT Mitochondrion membrane;Mitochondrion Leber hereditary optic neuropathy 3 PE1 -NX_P03905 51581 459 9.4 MT Mitochondrion membrane Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Leber hereditary optic neuropathy;Leber hereditary optic neuropathy with dystonia 11 PE1 -NX_P03915 67027 603 9.14 MT Mitochondrion inner membrane Mitochondrial complex I deficiency;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Leber hereditary optic neuropathy;Leigh syndrome 15 PE1 -NX_P03923 18622 174 4.18 MT Mitochondrion membrane Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Leber hereditary optic neuropathy with dystonia;Mitochondrial complex I deficiency;Leber hereditary optic neuropathy 6 PE1 -NX_P03928 7992 68 9.92 MT Mitochondrion membrane Mitochondrial complex V deficiency, mitochondrial 2;Cardiomyopathy, infantile hypertrophic 1 PE1 -NX_P03950 16550 147 9.73 14 Secretory vesicle lumen;Secreted;Nucleus;Nucleolus Amyotrophic lateral sclerosis 9 0 PE1 -NX_P03951 70109 625 8.47 4 Cytoplasmic vesicle;Secreted Factor XI deficiency 0 PE1 -NX_P03952 71370 638 8.6 4 Secreted Prekallikrein deficiency 0 PE1 -NX_P03956 54007 469 6.47 11 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_P03971 59195 560 7.04 19 Secreted Persistent Muellerian duct syndrome 1 0 PE1 -NX_P03973 14326 132 9.11 20 Secreted;Golgi apparatus NA 0 PE1 -NX_P03979 13664 118 8.97 7 NA NA 0 PE2 -NX_P03986 21554 189 5.42 7 Membrane NA 1 PE1 -NX_P03989 40428 362 5.54 6 Membrane Spondyloarthropathy 1 1 PE1 -NX_P03999 39135 348 8.91 7 Membrane Tritan color blindness 7 PE1 -NX_P04000 40572 364 8.89 X Membrane Colorblindness, partial, protan series;Blue cone monochromacy 7 PE1 -NX_P04001 40584 364 8.9 X Cell membrane Cone dystrophy 5;Blue cone monochromacy;Colorblindness, partial, deutan series 7 PE1 -NX_P04003 67033 597 7.15 1 Secreted NA 0 PE1 -NX_P04004 54306 478 5.55 17 Endoplasmic reticulum;Cytoplasmic vesicle;Extracellular space NA 0 PE1 -NX_P04035 97476 888 6.33 5 Endoplasmic reticulum membrane NA 7 PE1 -NX_P04040 59756 527 6.9 11 Peroxisome;Cytoplasmic vesicle;Cytosol Acatalasemia 0 PE1 -NX_P04049 73052 648 9.33 3 Nucleus speckle;Nucleus;Cytoplasm;Mitochondrion;Cell membrane Cardiomyopathy, dilated 1NN;Noonan syndrome 5;LEOPARD syndrome 2 0 PE1 -NX_P04053 58536 509 8.66 10 Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_P04054 16360 148 8.16 12 Cytosol;Secreted NA 0 PE1 -NX_P04062 59716 536 7.29 1 Lysosome membrane Gaucher disease 3C;Gaucher disease 2;Gaucher disease 1;Gaucher disease 3;Parkinson disease;Gaucher disease;Gaucher disease perinatal lethal 0 PE1 -NX_P04066 53689 466 6.37 1 Lysosome Fucosidosis 0 PE1 -NX_P04070 52071 461 5.85 2 Endoplasmic reticulum;Secreted;Golgi apparatus Thrombophilia due to protein C deficiency, autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive 0 PE1 -NX_P04075 39420 364 8.3 16 Nucleus;Cytosol;I band;M line Glycogen storage disease 12 0 PE1 -NX_P04080 11140 98 6.96 21 Nucleolus;Cytosol;Cytoplasm;Nucleus Epilepsy, progressive myoclonic 1 0 PE1 -NX_P04083 38714 346 6.57 9 Cytoplasm;Cell membrane;Cytoplasmic vesicle membrane;Cytoplasm;Cilium;Cell membrane;Cytosol;Secreted;Extracellular space;Cell membrane;Exosome;Secretory vesicle lumen;Nucleus;Membrane;Endosome membrane;Basolateral cell membrane;Apical cell membrane;Lateral cell membrane;Cell membrane;Early endosome;Phagocytic cup;Nucleoplasm NA 0 PE1 -NX_P04085 24043 211 9.52 7 Microtubule organizing center;Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_P04090 21043 185 8.88 9 Secreted NA 0 PE1 -NX_P04114 515605 4563 6.58 2 Cytoplasmic vesicle;Cytosol;Secreted;Cytoplasm Hypobetalipoproteinemia, familial, 1;Familial ligand-defective apolipoprotein B-100 0 PE1 -NX_P04118 11954 112 7.48 6 Secreted NA 0 PE1 -NX_P04141 16295 144 5.21 5 Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_P04150 85659 777 6 5 Cytosol;Cytoplasm;Centrosome;Mitochondrion;Nucleoplasm;Spindle;Nucleus;Mitochondrion Glucocorticoid resistance, generalized 0 PE1 -NX_P04155 9150 84 4.29 21 Secreted NA 0 PE1 -NX_P04156 27661 253 9.13 20 Cytosol;Cell membrane;Golgi apparatus;Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleus membrane Huntington disease-like 1;Spongiform encephalopathy with neuropsychiatric features;Fatal familial insomnia;Kuru;Gerstmann-Straussler disease;Creutzfeldt-Jakob disease 0 PE1 -NX_P04179 24722 222 8.35 6 Mitochondrion matrix Microvascular complications of diabetes 6 0 PE1 -NX_P04180 49578 440 5.71 16 Secreted;Nucleoplasm Fish-eye disease;Lecithin-cholesterol acyltransferase deficiency 0 PE1 -NX_P04181 48535 439 6.57 10 Mitochondrion;Nucleoplasm;Mitochondrion matrix Hyperornithinemia with gyrate atrophy of choroid and retina 0 PE1 -NX_P04183 25469 234 8.85 17 Cytoplasm NA 0 PE1 -NX_P04196 59578 525 7.09 3 Secreted Thrombophilia due to histidine-rich glycoprotein deficiency 0 PE1 -NX_P04198 49561 464 5.45 2 Nucleus;Nucleolus;Nucleus Feingold syndrome 1 0 PE1 -NX_P04201 37465 325 8.9 6 Cell membrane NA 7 PE1 -NX_P04211 12451 117 6.52 22 Secreted;Cell membrane NA 0 PE1 -NX_P04216 17935 161 8.96 11 Endoplasmic reticulum;Cell membrane;Nucleus;Cell membrane NA 0 PE1 -NX_P04217 54254 495 5.56 19 Secreted NA 0 PE1 -NX_P04222 40861 366 5.97 6 Membrane NA 1 PE1 -NX_P04229 29914 266 7.61 6 Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane;Late endosome membrane Sarcoidosis 1 1 PE1 -NX_P04233 33516 296 8.72 5 Golgi apparatus;Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network;Endosome;Lysosome NA 1 PE1 -NX_P04234 18930 171 5.3 11 Cell membrane Immunodeficiency 19 1 PE1 -NX_P04259 60067 564 8.09 12 NA Pachyonychia congenita 4 0 PE1 -NX_P04264 66039 644 8.15 12 Cell membrane Keratoderma, palmoplantar, non-epidermolytic;Ichthyosis annular epidermolytic;Epidermolytic hyperkeratosis;Ichthyosis hystrix, Curth-Macklin type;Keratoderma, palmoplantar, striate 3 0 PE1 -NX_P04271 10713 92 4.57 21 Cytoplasm;Nucleus;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_P04275 309265 2813 5.29 12 Extracellular matrix;Secreted von Willebrand disease 3;von Willebrand disease 1;von Willebrand disease 2 0 PE1 -NX_P04278 43779 402 6.22 17 Secreted NA 0 PE1 -NX_P04279 52131 462 9.3 20 Secreted NA 0 PE1 -NX_P04280 38546 392 11.22 12 Secreted NA 0 PE1 -NX_P04350 49586 444 4.78 19 Cytoskeleton Leukodystrophy, hypomyelinating, 6;Dystonia 4, torsion, autosomal dominant 0 PE1 -NX_P04406 36053 335 8.57 12 Cytoplasm;Cytosol;Cell membrane;Cytoskeleton;Cytosol;Nucleus;Perinuclear region;Membrane NA 0 PE1 -NX_P04424 51658 464 6.04 7 Cytosol Argininosuccinic aciduria 0 PE1 -NX_P04430 12618 117 8.4 2 Secreted;Cell membrane NA 0 PE1 -NX_P04432 12737 117 8.91 2 Secreted;Cell membrane NA 0 PE1 -NX_P04433 12575 115 4.85 2 Cell membrane;Secreted NA 0 PE1 -NX_P04435 14999 133 6.89 7 NA NA 0 PE1 -NX_P04436 14771 131 5.38 14 NA NA 0 PE1 -NX_P04437 15441 139 8.55 14 NA NA 0 PE1 -NX_P04439 40841 365 5.66 6 Membrane NA 1 PE1 -NX_P04440 29159 258 8.83 6 Endosome membrane;Endoplasmic reticulum membrane;Cell membrane;Cell junction;Nucleus;Lysosome membrane;trans-Golgi network membrane NA 1 PE1 -NX_P04553 6823 51 12.08 16 Nucleus;Chromosome NA 0 PE1 -NX_P04554 13051 102 11.9 16 Chromosome;Nucleus NA 0 PE1 -NX_P04626 137910 1255 5.58 17 Cell membrane;Cytosol;Cell membrane;Perinuclear region;Cytoplasm;Nucleus Lung cancer;Ovarian cancer;Glioma;Gastric cancer 1 PE1 -NX_P04628 40982 370 9.28 12 Extracellular matrix Osteogenesis imperfecta 15;Osteogenesis imperfecta 14;Osteoporosis 0 PE1 -NX_P04629 87497 796 6.17 1 Late endosome membrane;Cytosol;Cell membrane;Early endosome membrane;Cytoplasmic vesicle Congenital insensitivity to pain with anhidrosis 1 PE1 -NX_P04632 28316 268 5.05 19 Cell membrane;Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_P04637 43653 393 6.33 17 PML body;Endoplasmic reticulum;Mitochondrion matrix;Nucleoplasm;Cytoplasm;Nucleus Adrenocortical carcinoma;Squamous cell carcinoma of the head and neck;Basal cell carcinoma 7;Lung cancer;Li-Fraumeni syndrome;Papilloma of choroid plexus;Esophageal cancer 0 PE1 -NX_P04731 6120 61 8.38 16 NA NA 0 PE1 -NX_P04732 6014 61 8.38 16 NA NA 0 PE1 -NX_P04733 6086 61 8.23 16 NA NA 0 PE1 -NX_P04745 57768 511 6.47 1 Secreted NA 0 PE1 -NX_P04746 57707 511 6.6 1 Extracellular space NA 0 PE1 -NX_P04792 22783 205 5.98 7 Cytoplasm;Cell membrane;Cytosol;Cell membrane;Cytoplasm;Nucleus;Spindle Neuronopathy, distal hereditary motor, 2B;Charcot-Marie-Tooth disease 2F 0 PE1 -NX_P04798 58165 512 8.61 15 Microsome membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_P04808 21146 185 8.97 9 Secreted NA 0 PE1 -NX_P04818 35716 313 6.51 18 Nucleus;Cytoplasm;Mitochondrion;Mitochondrion matrix;Mitochondrion inner membrane NA 0 PE1 -NX_P04839 65336 570 8.9 X Cell membrane Granulomatous disease, chronic, X-linked;Immunodeficiency 34 6 PE1 -NX_P04843 68569 607 5.96 3 Endoplasmic reticulum;Endoplasmic reticulum;Endoplasmic reticulum membrane;Melanosome NA 1 PE1 -NX_P04844 69284 631 5.44 20 Endoplasmic reticulum membrane;Endoplasmic reticulum;Endoplasmic reticulum NA 3 PE1 -NX_P04899 40451 355 5.34 3 Cytosol;Cytoplasm;Nucleoplasm;Centrosome;Cell membrane;Membrane;Cell membrane NA 0 PE1 -NX_P04908 14135 130 11.05 6 Chromosome;Nucleoplasm;Nucleus NA 0 PE1 -NX_P04920 137009 1241 5.9 7 Cytosol;Nucleus speckle;Cell membrane;Membrane NA 10 PE1 -NX_P04921 13811 128 4.68 2 Cell membrane;Cytosol;Cytoplasmic vesicle NA 1 PE1 -NX_P05000 22319 195 9.18 9 Secreted NA 0 PE1 -NX_P05013 22141 189 6.9 9 Secreted NA 0 PE1 -NX_P05014 21808 189 5.76 9 Secreted NA 0 PE1 -NX_P05015 21711 189 6.31 9 Secreted NA 0 PE2 -NX_P05019 21841 195 9.78 12 Secreted Insulin-like growth factor I deficiency 0 PE1 -NX_P05023 112896 1023 5.33 1 Cell membrane;Sarcolemma;Melanosome NA 10 PE1 -NX_P05026 35061 303 8.74 1 Cell membrane;Sarcolemma NA 1 PE1 -NX_P05060 78276 677 5.02 20 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P05062 39473 364 8.01 9 Centriolar satellite Hereditary fructose intolerance 0 PE1 -NX_P05067 86943 770 4.73 21 Membrane;Golgi apparatus;Cytoplasmic vesicle;Clathrin-coated pit Alzheimer disease 1;Cerebral amyloid angiopathy, APP-related 1 PE1 -NX_P05089 34735 322 6.72 6 Cytoplasm;Cytoplasmic granule Argininemia 0 PE1 -NX_P05090 21276 189 5.06 3 Secreted NA 0 PE1 -NX_P05091 56381 517 6.63 12 Mitochondrion matrix NA 0 PE1 -NX_P05093 57371 508 8.72 10 Membrane Adrenal hyperplasia 5 0 PE1 -NX_P05106 87058 788 5.09 17 Focal adhesion;Cell membrane;Lamellipodium membrane Glanzmann thrombasthenia;Bleeding disorder, platelet-type 16 1 PE1 -NX_P05107 84782 769 6.66 21 Membrane;Cytosol Leukocyte adhesion deficiency 1 1 PE1 -NX_P05108 60102 521 8.89 15 Mitochondrion membrane Adrenal insufficiency, congenital, with 46,XY sex reversal 0 PE1 -NX_P05109 10835 93 6.51 1 Secreted;Cytoskeleton;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_P05111 39670 366 8.29 2 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P05112 17492 153 9.17 5 Secreted Ischemic stroke 0 PE1 -NX_P05113 15238 134 7.81 5 Secreted NA 0 PE1 -NX_P05114 10659 100 9.6 21 Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_P05120 46596 415 5.46 18 Golgi apparatus;Extracellular space;Cytoplasm NA 0 PE1 -NX_P05121 45060 402 6.68 7 Cytosol;Secreted Plasminogen activator inhibitor-1 deficiency 0 PE1 -NX_P05129 78448 697 7.27 19 Cytoplasm;Perinuclear region;Cell membrane;Synaptosome;Dendrite Spinocerebellar ataxia 14 0 PE1 -NX_P05141 32852 298 9.71 X Cytoplasm;Mitochondrion inner membrane NA 6 PE1 -NX_P05154 45675 406 9.3 14 Mitochondrion;Extracellular space NA 0 PE1 -NX_P05155 55154 500 6.09 11 Secreted Hereditary angioedema 0 PE1 -NX_P05156 65750 583 7.72 4 Extracellular space Macular degeneration, age-related, 13;Complement factor I deficiency;Hemolytic uremic syndrome atypical 3 0 PE1 -NX_P05160 75511 661 6.01 1 Secreted Factor XIII subunit B deficiency 0 PE1 -NX_P05161 17888 165 6.83 1 Cytoplasm;Secreted Immunodeficiency 38, with basal ganglia calcification 0 PE1 -NX_P05162 14644 132 5.93 22 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_P05164 83869 745 9.19 17 Nucleus;Cytoplasmic vesicle;Lysosome Myeloperoxidase deficiency 0 PE1 -NX_P05165 80059 728 7.24 13 Mitochondrion matrix Propionic acidemia type I 0 PE1 -NX_P05166 58216 539 7.56 3 Mitochondrion matrix Propionic acidemia type II 0 PE1 -NX_P05177 58294 515 9.18 15 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P05181 56849 493 8.28 10 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P05186 57305 524 6.19 1 Cell membrane;Cytosol Hypophosphatasia childhood type;Hypophosphatasia;Hypophosphatasia infantile type 0 PE1 -NX_P05187 57954 535 5.86 2 Cell membrane NA 1 PE1 -NX_P05198 36112 315 5.02 14 Cytoplasmic granule;Nucleoplasm;Cytosol NA 0 PE1 -NX_P05204 9393 90 10 1 Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_P05230 17460 155 6.52 5 Secreted;Cytoplasm;Cell cortex;Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_P05231 23718 212 6.17 7 Secreted;Cytoplasmic vesicle Rheumatoid arthritis systemic juvenile 0 PE1 -NX_P05305 24425 212 9.52 6 Golgi apparatus;Nucleolus;Nucleus;Secreted Question mark ears, isolated;Auriculocondylar syndrome 3 0 PE1 -NX_P05362 57825 532 8.31 19 Cell membrane;Cytosol;Membrane NA 1 PE1 -NX_P05386 11514 114 4.26 15 Cytoplasm;Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_P05387 11665 115 4.42 11 Cytoplasm NA 0 PE1 -NX_P05388 34274 317 5.72 12 Cytoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P05408 23730 212 5.62 15 Secreted NA 0 PE1 -NX_P05412 35676 331 8.9 1 Nucleus;Nucleoplasm NA 0 PE1 -NX_P05413 14858 133 6.29 1 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_P05423 44396 398 6.51 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_P05451 18731 166 5.65 2 Secreted NA 0 PE1 -NX_P05452 22537 202 5.52 3 Secreted NA 0 PE1 -NX_P05455 46837 408 6.68 2 Nucleus;Nucleoplasm NA 0 PE1 -NX_P05496 14277 136 9.81 17 Mitochondrion;Mitochondrion membrane NA 2 PE1 -NX_P05534 40689 365 5.91 6 Membrane NA 1 PE1 -NX_P05538 30387 268 6.32 6 Cell membrane;Endoplasmic reticulum membrane;Lysosome membrane;Endosome membrane;trans-Golgi network membrane NA 1 PE1 -NX_P05543 46325 415 5.87 X Secreted NA 0 PE1 -NX_P05546 57071 499 6.41 22 Cytoplasmic vesicle Thrombophilia due to heparin cofactor 2 deficiency 0 PE1 -NX_P05549 48062 437 8.1 6 Nucleoplasm;Nucleus Branchiooculofacial syndrome 0 PE1 -NX_P05556 88415 798 5.27 10 Focal adhesion;Cell membrane;Invadopodium membrane;Ruffle membrane;Endoplasmic reticulum;Cell membrane;Cell junction;Recycling endosome;Melanosome;Cleavage furrow;Lamellipodium;Ruffle;Focal adhesion;Cell surface;Sarcolemma NA 1 PE1 -NX_P05771 76869 671 6.57 16 Nucleoplasm;Cytosol;Cytoplasm;Membrane;Nucleus NA 0 PE1 -NX_P05783 48058 430 5.34 12 Cytoplasm;Cytosol;Perinuclear region;Nucleolus Cirrhosis 0 PE1 -NX_P05787 53704 483 5.52 12 Cytoskeleton;Cytoplasm;Nucleus matrix;Nucleoplasm;Cytoplasm;Cytoskeleton Cirrhosis 0 PE1 -NX_P05813 25150 215 5.82 17 NA Cataract 10, multiple types 0 PE1 -NX_P05814 25382 226 5.52 4 Secreted NA 0 PE1 -NX_P05937 30025 261 4.7 8 Cytoplasmic vesicle NA 0 PE1 -NX_P05976 21145 194 4.97 2 NA NA 0 PE1 -NX_P05981 45011 417 7.8 19 Cell membrane;Apical cell membrane NA 1 PE1 -NX_P05997 144910 1499 6.07 2 Extracellular matrix Ehlers-Danlos syndrome, classic type 0 PE1 -NX_P06028 9782 91 9.43 4 Cell membrane NA 1 PE1 -NX_P06126 37077 327 6.3 1 Membrane raft;Endosome membrane;Cell membrane NA 1 PE1 -NX_P06127 54578 495 8.59 11 Cell membrane NA 1 PE1 -NX_P06132 40787 367 5.77 1 Cytosol;Cytoplasm;Nucleoplasm Hepatoerythropoietic porphyria;Familial porphyria cutanea tarda 0 PE1 -NX_P06133 60513 528 8.7 4 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_P06213 156333 1382 5.83 19 Cell membrane;Cytoplasmic vesicle Diabetes mellitus, non-insulin-dependent;Insulin-resistant diabetes mellitus with acanthosis nigricans type A;Familial hyperinsulinemic hypoglycemia 5;Leprechaunism;Rabson-Mendenhall syndrome 1 PE1 -NX_P06239 58001 509 5.23 1 Golgi apparatus;Cell membrane;Cytoplasm Immunodeficiency 22 0 PE1 -NX_P06241 60762 537 6.23 6 Cytosol;Cell membrane;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_P06276 68418 602 7.12 3 Secreted Butyrylcholinesterase deficiency 0 PE1 -NX_P06280 48767 429 5.35 X Lysosome Fabry disease 0 PE1 -NX_P06307 12669 115 9.18 3 Secreted NA 0 PE1 -NX_P06310 13185 120 8.71 2 Cell membrane;Secreted NA 0 PE1 -NX_P06312 13380 121 5.09 2 Secreted;Cell membrane NA 0 PE1 -NX_P06315 12728 115 4.21 2 Secreted;Cell membrane NA 0 PE1 -NX_P06331 13815 123 9.39 14 Secreted;Cell membrane NA 0 PE1 -NX_P06340 27599 250 5.57 6 Lysosome membrane;Endosome membrane NA 1 PE1 -NX_P06396 85698 782 5.9 9 Secreted;Cytoskeleton;Cytoskeleton Amyloidosis 5 0 PE1 -NX_P06400 106159 928 8.13 13 Nucleoplasm;Nucleus Osteogenic sarcoma;Childhood cancer retinoblastoma;Bladder cancer 0 PE1 -NX_P06401 98981 933 6.09 11 Nucleus;Cytoplasm;Mitochondrion outer membrane NA 0 PE1 -NX_P06454 12203 111 3.69 2 Nucleus;Nucleus NA 0 PE1 -NX_P06493 34095 297 8.38 10 Cytoplasm;Cytosol;Mitochondrion;Centrosome;Nucleus;Spindle;Nucleus NA 0 PE1 -NX_P06576 56560 529 5.26 12 Mitochondrion;Mitochondrion;Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P06681 83268 752 7.23 6 Secreted Complement component 2 deficiency 0 PE1 -NX_P06702 13242 114 5.71 1 Secreted;Nucleoplasm;Cell junction;Cytosol;Cytoskeleton;Cell membrane;Cytoplasm NA 0 PE1 -NX_P06703 10180 90 5.32 1 Cytosol;Nucleus envelope;Cytoplasm;Cell membrane NA 0 PE1 -NX_P06727 45399 396 5.28 11 Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_P06729 39448 351 9.66 1 Membrane NA 1 PE1 -NX_P06730 25097 217 5.79 4 Cytosol;Cytosol;Cytoplasm;P-body;Cytoplasm Autism 19 0 PE1 -NX_P06731 76795 702 5.59 19 Cell membrane;Cell membrane NA 0 PE1 -NX_P06732 43101 381 6.77 19 Cytoplasm NA 0 PE1 -NX_P06733 47169 434 7.01 1 Nucleus;Cytoplasm;Cytoplasm;Cell membrane;M line;Nucleus NA 0 PE1 -NX_P06734 36469 321 5.38 19 Cell membrane;Cell membrane;Secreted NA 1 PE1 -NX_P06737 97149 847 6.71 14 Cytosol;Cell membrane Glycogen storage disease 6 0 PE1 -NX_P06744 63147 558 8.42 19 Cytoplasm;Secreted;Cytosol;Cell membrane;Nucleoplasm Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency 0 PE1 -NX_P06746 38178 335 9.01 8 Nucleus;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_P06748 32575 294 4.64 5 Nucleolus;Nucleus;Nucleolus;Nucleolus;Nucleus;Nucleoplasm;Centrosome NA 0 PE1 -NX_P06753 32950 285 4.68 1 Cytoskeleton;Cytoplasm;Cytoskeleton Cap myopathy 1;Myopathy, congenital, with fiber-type disproportion;Nemaline myopathy 1 0 PE1 -NX_P06756 116038 1048 5.45 2 Cytosol;Focal adhesion;Focal adhesion;Membrane NA 1 PE1 -NX_P06850 21422 196 10 8 Secreted NA 0 PE1 -NX_P06858 53162 475 8.37 8 Cell membrane;Cytoplasmic vesicle;Secreted Lipoprotein lipase deficiency 0 PE1 -NX_P06865 60703 529 5.04 15 Lysosome GM2-gangliosidosis 1 0 PE1 -NX_P06870 28890 262 4.68 19 NA NA 0 PE1 -NX_P06881 13898 128 9.5 11 Secreted NA 0 PE1 -NX_P06899 13904 126 10.31 6 Chromosome;Nucleus NA 0 PE1 -NX_P07093 44002 398 9.35 2 Extracellular space NA 0 PE1 -NX_P07098 45238 398 6.83 10 Secreted NA 0 PE1 -NX_P07099 52949 455 6.77 1 Microsome membrane;Endoplasmic reticulum membrane Familial hypercholanemia 1 PE1 -NX_P07101 58600 528 5.9 11 NA Segawa syndrome autosomal recessive 0 PE1 -NX_P07108 10044 87 6.12 2 Golgi apparatus;Endoplasmic reticulum NA 0 PE1 -NX_P07148 14208 127 6.6 2 Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_P07195 36638 334 5.71 12 Cytosol;Cytoplasm Lactate dehydrogenase B deficiency 0 PE1 -NX_P07196 61517 543 4.64 8 Cytoskeleton;Nucleus speckle Charcot-Marie-Tooth disease 1F;Charcot-Marie-Tooth disease 2E 0 PE1 -NX_P07197 102472 916 4.9 8 Cytosol NA 0 PE1 -NX_P07199 65171 599 4.49 20 Nucleus;Nucleus;Centromere NA 0 PE1 -NX_P07202 102963 933 6.32 2 Cell surface;Membrane Thyroid dyshormonogenesis 2A 1 PE1 -NX_P07203 22088 203 6.15 3 Cytoplasm;Cytosol NA 0 PE1 -NX_P07204 60329 575 4.78 20 Membrane;Cytosol;Nucleoplasm Thrombophilia due to thrombomodulin defect;Hemolytic uremic syndrome atypical 6 1 PE1 -NX_P07205 44796 417 8.74 6 Cytoplasm NA 0 PE1 -NX_P07225 75123 676 5.48 3 Secreted Thrombophilia due to protein S deficiency, autosomal recessive;Thrombophilia due to protein S deficiency, autosomal dominant 0 PE1 -NX_P07237 57116 508 4.76 17 Endoplasmic reticulum;Endoplasmic reticulum;Endoplasmic reticulum lumen;Melanosome;Cell membrane Cole-Carpenter syndrome 1 0 PE1 -NX_P07288 28741 261 7.61 19 Secreted NA 0 PE1 -NX_P07305 20863 194 10.84 22 Nucleus;Chromosome;Cytoskeleton;Nucleus;Golgi apparatus;Nucleus NA 0 PE1 -NX_P07306 33186 291 5.28 17 Cell junction;Cytoplasmic vesicle;Membrane;Secreted NA 1 PE1 -NX_P07307 35092 311 5.81 17 Endoplasmic reticulum;Cell membrane;Membrane NA 1 PE1 -NX_P07311 11261 99 9.3 14 Cytosol;Nucleus NA 0 PE1 -NX_P07315 20879 174 6.88 2 NA Cataract 2, multiple types 0 PE1 -NX_P07316 20908 175 6.88 2 NA Cataract 39, multiple types 0 PE1 -NX_P07320 20738 174 7 2 NA Cataract 4, multiple types 0 PE1 -NX_P07327 39859 375 8.26 4 Cytoplasm NA 0 PE1 -NX_P07332 93497 822 6.27 15 Cytosol;Cytosol;Nucleus;Cytoplasmic vesicle;Golgi apparatus;Focal adhesion;Cytoskeleton;Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_P07333 107984 972 5.93 5 Cell membrane;Cell membrane;Cytoplasmic vesicle Leukoencephalopathy, diffuse hereditary, with spheroids 1 PE1 -NX_P07339 44552 412 6.1 11 Lysosome;Melanosome;Extracellular space Ceroid lipofuscinosis, neuronal, 10 0 PE1 -NX_P07355 38604 339 7.57 15 Basement membrane;Melanosome NA 0 PE1 -NX_P07357 65163 584 6.07 1 Secreted;Cell membrane Complement component 8 deficiency, 1 0 PE1 -NX_P07358 67047 591 8.5 1 Secreted Complement component 8 deficiency, 2 0 PE1 -NX_P07359 71540 652 5.87 17 Membrane Bernard-Soulier syndrome;Non-arteritic anterior ischemic optic neuropathy;Bernard-Soulier syndrome A2, autosomal dominant;Pseudo-von Willebrand disease 1 PE1 -NX_P07360 22277 202 8.49 9 Secreted;Endoplasmic reticulum NA 0 PE1 -NX_P07384 81890 714 5.49 11 Cytoplasm;Cytosol;Cell membrane Spastic paraplegia 76, autosomal recessive 0 PE1 -NX_P07437 49671 444 4.78 6 Cytoplasm;Cytoskeleton Skin creases, congenital symmetric circumferential, 1;Cortical dysplasia, complex, with other brain malformations 6 0 PE1 -NX_P07438 6115 61 8.47 16 NA NA 0 PE1 -NX_P07451 29557 260 6.86 8 Cytoplasm NA 0 PE1 -NX_P07476 68479 585 4.62 1 Centrosome;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_P07477 26558 247 6.08 7 Extracellular space Pancreatitis, hereditary 0 PE1 -NX_P07478 26488 247 4.78 7 Extracellular space NA 0 PE1 -NX_P07492 16213 148 10.22 18 Secreted;Secretory vesicle lumen NA 0 PE1 -NX_P07498 20305 182 8.97 4 Secreted NA 0 PE1 -NX_P07510 57883 517 5.86 2 Postsynaptic cell membrane;Cell membrane Multiple pterygium syndrome, Escobar variant;Multiple pterygium syndrome, lethal type 4 PE1 -NX_P07550 46459 413 6.59 5 Cytosol;Cell membrane;Early endosome NA 7 PE1 -NX_P07585 39747 359 8.75 12 Extracellular matrix Corneal dystrophy, congenital stromal 0 PE1 -NX_P07602 58113 524 5.06 10 Cytoplasmic vesicle;Lysosome;Secreted Gaucher disease, atypical, due to saposin C deficiency;Combined saposin deficiency;Krabbe disease, atypical, due to saposin A deficiency;Leukodystrophy metachromatic due to saposin-B deficiency 0 PE1 -NX_P07686 63111 556 6.29 5 Lysosome GM2-gangliosidosis 2 0 PE1 -NX_P07711 37564 333 5.32 9 Lysosome NA 0 PE1 -NX_P07737 15054 140 8.44 17 Cytoplasm;Cytoskeleton;Cytosol Amyotrophic lateral sclerosis 18 0 PE1 -NX_P07738 30005 259 6.1 7 Nucleolus Bisphosphoglycerate mutase deficiency 0 PE1 -NX_P07741 19608 180 5.78 16 Cytosol;Cytoplasm;Nucleoplasm Adenine phosphoribosyltransferase deficiency 0 PE1 -NX_P07766 23147 207 6.32 11 Cell membrane Immunodeficiency 18 1 PE1 -NX_P07814 170591 1512 7.02 1 Cytoplasm;Cytosol;Cytosol NA 0 PE1 -NX_P07858 37822 339 5.88 8 Lysosome;Extracellular space;Melanosome;Cytoplasmic vesicle;Nucleolus NA 0 PE1 -NX_P07864 36311 332 7.08 11 Cytoplasm NA 0 PE1 -NX_P07900 84660 732 4.94 14 Nucleus;Cytoplasm;Melanosome;Cell membrane;Cytoplasm;Cytosol NA 0 PE1 -NX_P07902 43363 379 6.49 9 Cytosol Galactosemia 0 PE1 -NX_P07910 33670 306 4.95 14 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_P07911 69761 640 5.05 16 Basolateral cell membrane;Apical cell membrane;Secreted;Cilium membrane Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Familial juvenile hyperuricemic nephropathy 1;Medullary cystic kidney disease 2 0 PE1 -NX_P07919 10739 91 4.39 1 Mitochondrion inner membrane NA 0 PE1 -NX_P07942 198038 1786 4.83 7 Basement membrane Lissencephaly 5 0 PE1 -NX_P07947 60801 543 6.32 18 Cell membrane;Cytosol;Cell membrane;Centrosome;Cytosol NA 0 PE1 -NX_P07948 58574 512 6.7 8 Golgi apparatus;Cytoplasmic vesicle;Cell membrane;Nucleus;Cell membrane;Perinuclear region;Golgi apparatus;Membrane;Cytoplasm NA 0 PE1 -NX_P07949 124319 1114 6.17 10 Cytosol;Cytoplasmic vesicle;Cell membrane;Cell membrane;Endosome membrane Multiple neoplasia 2B;Multiple neoplasia 2A;Colorectal cancer;Hirschsprung disease 1;Medullary thyroid carcinoma;Pheochromocytoma;Congenital central hypoventilation syndrome 1 PE1 -NX_P07951 32851 284 4.66 9 Cytoplasm;Cytoskeleton Nemaline myopathy 4;Arthrogryposis, distal, 1A;Arthrogryposis, distal, 2B;Cap myopathy 2 0 PE1 -NX_P07954 54637 510 8.85 1 Mitochondrion;Mitochondrion;Cytoplasm Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer 0 PE1 -NX_P07988 42117 381 5.27 2 Surface film Respiratory distress syndrome in premature infants;Pulmonary surfactant metabolism dysfunction 1 0 PE1 -NX_P07992 32562 297 5.9 19 Nucleus;Cytoplasm;Nucleus;Nucleoplasm Cerebro-oculo-facio-skeletal syndrome 4 0 PE1 -NX_P07996 129383 1170 4.71 15 Cell membrane;Endoplasmic reticulum;Sarcoplasmic reticulum NA 0 PE1 -NX_P07998 17644 156 9.1 14 Nucleoplasm;Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P08034 32025 283 9.19 X Cell membrane;Gap junction Dejerine-Sottas syndrome;Charcot-Marie-Tooth disease, X-linked dominant, 1 4 PE1 -NX_P08047 80693 785 6.94 12 Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_P08048 90505 801 5.65 Y Nucleus NA 0 PE1 -NX_P08069 154793 1367 5.58 15 Cytoplasmic vesicle;Cell membrane Insulin-like growth factor 1 resistance 1 PE1 -NX_P08100 38893 348 6.21 3 Cell membrane;Membrane Retinitis pigmentosa 4;Night blindness, congenital stationary, autosomal dominant 1 7 PE1 -NX_P08118 12865 114 5.36 10 Secreted Prostate cancer, hereditary, 13 0 PE1 -NX_P08123 129314 1366 9.08 7 Endoplasmic reticulum;Extracellular matrix Osteogenesis imperfecta 4;Osteogenesis imperfecta 2;Ehlers-Danlos syndrome 7B;Osteogenesis imperfecta 3;Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form;Osteogenesis imperfecta 1 0 PE1 -NX_P08133 75873 673 5.42 5 Nucleus speckle;Cytoplasm;Melanosome NA 0 PE1 -NX_P08134 22006 193 6.2 1 Cell membrane;Cleavage furrow NA 0 PE1 -NX_P08138 45183 427 4.59 17 Membrane;Cell membrane;Nucleoplasm NA 1 PE1 -NX_P08151 117904 1106 6.98 12 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P08172 51715 466 9.07 7 Cell membrane;Postsynaptic cell membrane Major depressive disorder 7 PE1 -NX_P08173 53049 479 9.87 11 Postsynaptic cell membrane;Nucleus;Cell membrane;Golgi apparatus NA 7 PE1 -NX_P08174 41400 381 7.79 1 Cytoplasmic vesicle;Midbody ring;Secreted;Cell membrane;Cell membrane Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 0 PE1 -NX_P08183 141479 1280 9.06 7 Cytosol;Cell membrane;Nucleoplasm;Focal adhesion Inflammatory bowel disease 13 12 PE1 -NX_P08185 45141 405 5.64 14 Secreted Corticosteroid-binding globulin deficiency 0 PE1 -NX_P08195 67994 630 4.89 11 Cell membrane;Cell membrane;Melanosome;Nucleus;Cytosol;Apical cell membrane NA 1 PE1 -NX_P08217 28888 269 8.8 1 Secreted NA 0 PE1 -NX_P08218 28810 269 6.48 1 Secreted NA 0 PE1 -NX_P08235 107067 984 7.22 4 Nucleoplasm;Cytoplasm;Nucleus;Endoplasmic reticulum membrane Early-onset hypertension with severe exacerbation in pregnancy;Pseudohypoaldosteronism 1, autosomal dominant 0 PE1 -NX_P08236 74732 651 6.54 7 Cytoplasmic vesicle;Lysosome Mucopolysaccharidosis 7 0 PE1 -NX_P08237 85183 780 8.23 12 Cytoplasm;Endoplasmic reticulum Glycogen storage disease 7 0 PE1 -NX_P08238 83264 724 4.97 6 Cytoplasm;Cytoplasm;Melanosome;Nucleus;Secreted;Cell membrane NA 0 PE1 -NX_P08240 69811 638 9.07 11 Endoplasmic reticulum membrane NA 0 PE1 -NX_P08243 64370 561 6.39 7 Cytosol Asparagine synthetase deficiency 0 PE1 -NX_P08246 28518 267 9.71 19 NA Neutropenia, severe congenital 1, autosomal dominant;Cyclic haematopoiesis 0 PE1 -NX_P08247 33845 313 4.66 X Synaptic vesicle membrane;Synaptosome Mental retardation, X-linked 96 4 PE1 -NX_P08253 73882 660 5.26 16 Cytosol;Extracellular matrix;Membrane;Nucleus;Cytoplasm;Cytoplasmic vesicle;Mitochondrion Multicentric osteolysis, nodulosis, and arthropathy 0 PE1 -NX_P08254 53977 477 5.77 11 Cytoplasmic vesicle;Extracellular matrix Coronary heart disease 6 0 PE1 -NX_P08263 25631 222 8.91 6 Cytoplasm NA 0 PE1 -NX_P08294 25851 240 6.13 4 Extracellular space NA 0 PE1 -NX_P08311 28837 255 11.19 14 Cell surface NA 0 PE1 -NX_P08319 40222 380 8.25 4 Nucleus;Cytoplasm;Cytosol NA 0 PE1 -NX_P08397 39330 361 6.68 11 Lipid droplet;Cytoplasm Acute intermittent porphyria 0 PE1 -NX_P08473 85514 750 5.54 3 Cell membrane Spinocerebellar ataxia 43;Charcot-Marie-Tooth disease 2T 1 PE1 -NX_P08476 47442 426 8.3 7 Secreted NA 0 PE1 -NX_P08493 12353 103 9.71 12 Secreted Keutel syndrome 0 PE1 -NX_P08514 113377 1039 5.21 17 Cytosol;Nucleoplasm;Cell junction;Membrane Glanzmann thrombasthenia;Bleeding disorder, platelet-type 16 1 PE1 -NX_P08519 501319 4548 5.58 6 NA NA 0 PE1 -NX_P08559 43296 390 8.35 X Mitochondrion matrix Pyruvate dehydrogenase E1-alpha deficiency 0 PE1 -NX_P08567 40125 350 8.51 2 NA NA 0 PE1 -NX_P08571 40076 375 5.84 5 Cytoplasmic vesicle;Cell membrane;Golgi apparatus;Secreted;Membrane raft NA 0 PE1 -NX_P08572 167553 1712 8.89 13 Cytoplasmic vesicle;Basement membrane Porencephaly 2;Intracerebral hemorrhage 0 PE1 -NX_P08574 35422 325 9.15 8 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 6 1 PE1 -NX_P08575 147254 1304 5.77 1 Membrane;Membrane raft Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive;Multiple sclerosis 1 PE1 -NX_P08579 25486 225 9.72 20 Nucleus;Nucleus speckle NA 0 PE1 -NX_P08581 155541 1390 7.02 7 Cytosol;Membrane;Secreted;Cell membrane Renal cell carcinoma papillary;Osteofibrous dysplasia;Deafness, autosomal recessive, 97;Hepatocellular carcinoma 1 PE1 -NX_P08582 80215 738 5.61 3 Cell membrane NA 0 PE1 -NX_P08588 51323 477 9.23 10 Cell membrane;Early endosome NA 7 PE1 -NX_P08590 21932 195 5.03 3 Cytoplasmic vesicle Cardiomyopathy, familial hypertrophic 8 0 PE1 -NX_P08603 139096 1231 6.21 1 Secreted Macular degeneration, age-related, 4;Basal laminar drusen;Hemolytic uremic syndrome atypical 1;Complement factor H deficiency 0 PE1 -NX_P08620 22048 206 9.73 11 Secreted NA 0 PE1 -NX_P08621 51557 437 9.94 19 Nucleus speckle;Nucleoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_P08631 59600 526 6.27 20 Caveola;Cytoplasmic vesicle;Nucleus;Focal adhesion;Lysosome;Membrane;Podosome membrane;Cytosol;Cell membrane;Golgi apparatus;Cytoskeleton;Nucleoplasm;Cell membrane;Secretory vesicle NA 0 PE1 -NX_P08637 29089 254 8.2 1 Secreted;Cell membrane Immunodeficiency 20 1 PE1 -NX_P08648 114536 1049 5.5 12 Membrane;Focal adhesion;Cell surface NA 1 PE1 -NX_P08651 55675 508 8.62 19 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_P08670 53652 466 5.06 10 Cell membrane;Cytoplasm;Cytoskeleton;Cytoplasm;Golgi apparatus Cataract 30, multiple types 0 PE1 -NX_P08684 57343 503 8.27 7 Microsome membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_P08686 55887 494 7.71 6 Endoplasmic reticulum membrane;Microsome membrane Adrenal hyperplasia 3 0 PE1 -NX_P08697 54566 491 5.87 17 Nucleoplasm;Cytoplasmic vesicle;Secreted Alpha-2-plasmin inhibitor deficiency 0 PE1 -NX_P08700 17233 152 8.69 5 Secreted NA 0 PE1 -NX_P08708 15550 135 9.85 15 Nucleolus;Cytoplasm;Nucleus;Nucleolus;Endoplasmic reticulum;Cytosol Diamond-Blackfan anemia 4 0 PE1 -NX_P08709 51594 466 6.92 13 Secreted Factor VII deficiency 0 PE1 -NX_P08727 44106 400 5.05 17 Cytoskeleton NA 0 PE1 -NX_P08729 51386 469 5.4 12 Cytoplasm NA 0 PE1 -NX_P08754 40532 354 5.5 1 Cytoplasm;Cell membrane;Centrosome;Membrane Auriculocondylar syndrome 1 0 PE1 -NX_P08758 35937 320 4.94 4 Nucleus;Nucleus membrane;Cytoplasm Pregnancy loss, recurrent, 3 0 PE1 -NX_P08779 51268 473 4.98 17 NA Pachyonychia congenita 1;Keratoderma, palmoplantar, non-epidermolytic, focal 1 0 PE1 -NX_P08833 27904 259 5.11 7 Golgi apparatus;Secreted NA 0 PE1 -NX_P08842 65492 583 7.6 X Endoplasmic reticulum membrane Ichthyosis, X-linked 2 PE1 -NX_P08861 29263 270 5.85 1 NA NA 0 PE1 -NX_P08865 32854 295 4.79 3 Cytoplasm;Cytosol;Cell membrane;Cell membrane;Nucleus Asplenia, isolated congenital 0 PE1 -NX_P08887 51548 468 8.56 1 Basolateral cell membrane;Secreted NA 1 PE1 -NX_P08908 46107 422 9.13 5 Cell membrane Periodic fever, menstrual cycle-dependent 7 PE1 -NX_P08910 48315 425 6.24 15 Flagellum membrane;Cell membrane;Cytosol;Nucleoplasm NA 1 PE1 -NX_P08912 60074 532 9.39 15 Cell membrane;Postsynaptic cell membrane NA 7 PE2 -NX_P08913 48957 450 9.8 10 Cell membrane NA 7 PE1 -NX_P08922 263915 2347 5.76 6 Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_P08949 13252 121 11.87 15 Cell membrane;Nucleus;Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_P08962 25637 238 8.14 12 Cytoplasm;Nucleus;Cell membrane;Lysosome membrane;Multivesicular body;Melanosome;Cytoplasmic vesicle;Lysosome;Late endosome membrane;Exosome;Cell surface NA 4 PE1 -NX_P08F94 446702 4074 6.12 6 Cytoplasm;Cell membrane;Centromere;Spindle;Cilium basal body;Cilium Polycystic kidney disease 4, with or without hepatic disease 1 PE1 -NX_P09001 38633 348 9.52 3 Mitochondrion Combined oxidative phosphorylation deficiency 9 0 PE1 -NX_P09012 31280 282 9.83 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_P09016 27885 255 9.44 2 Nucleus;Nucleus;Cell junction NA 0 PE1 -NX_P09017 29811 264 9.24 12 Nucleus;Nucleus NA 0 PE1 -NX_P09038 30770 288 11.18 4 Nucleoplasm;Nucleus;Secreted;Nucleus NA 0 PE1 -NX_P09067 29434 269 9.1 17 Nucleus;Nucleus NA 0 PE1 -NX_P09086 51209 479 8.6 19 Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_P09093 29489 270 6.43 1 NA NA 0 PE1 -NX_P09104 47269 434 4.91 12 Cytoplasm;Cell membrane NA 0 PE1 -NX_P09105 15508 142 7.09 16 Lipid droplet NA 0 PE1 -NX_P09110 44292 424 8.76 3 Peroxisome;Peroxisome NA 0 PE1 -NX_P09131 50333 477 7.65 X Endoplasmic reticulum;Cytoskeleton;Membrane NA 8 PE2 -NX_P09132 16156 144 9.87 5 Cytoplasm NA 0 PE1 -NX_P09172 69065 617 5.97 9 Cytoplasmic vesicle;Chromaffin granule membrane;Secretory vesicle membrane;Secretory vesicle lumen;Chromaffin granule lumen;Secreted Dopamine beta-hydroxylase deficiency 1 PE1 -NX_P09210 25664 222 8.51 6 Cytoplasm NA 0 PE1 -NX_P09211 23356 210 5.43 11 Mitochondrion;Cytoplasm;Cytosol;Mitochondrion;Nucleus NA 0 PE1 -NX_P09228 16445 141 4.85 20 Secreted NA 0 PE1 -NX_P09234 17394 159 9.72 6 Nucleus NA 0 PE1 -NX_P09237 29677 267 7.73 11 Cytoplasmic vesicle;Nucleoplasm;Extracellular matrix NA 0 PE1 -NX_P09238 54151 476 5.49 11 Extracellular matrix;Cell membrane;Cytosol NA 0 PE1 -NX_P09326 27683 243 8.34 1 Cell membrane;Nucleolus;Cytosol;Cell membrane NA 0 PE1 -NX_P09327 92695 827 5.99 2 Filopodium;Filopodium tip;Cell membrane;Cytoskeleton;Lamellipodium;Ruffle;Microvillus NA 0 PE1 -NX_P09341 11301 107 10.46 4 Secreted NA 0 PE1 -NX_P09382 14716 135 5.33 22 Cytoplasm;Extracellular matrix;Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P09417 25790 244 6.9 4 Mitochondrion Hyperphenylalaninemia, BH4-deficient, C 0 PE1 -NX_P09429 24894 215 5.62 13 Nucleus;Nucleus;Nucleus;Secreted;Cell membrane;Cytoplasm;Chromosome;Endosome;Endoplasmic reticulum-Golgi intermediate compartment NA 0 PE1 -NX_P09430 6424 55 12.09 2 Chromosome;Nucleus NA 0 PE1 -NX_P09455 15850 135 4.99 3 Cytoplasm;Nucleoplasm;Cytosol;Lipid droplet NA 0 PE1 -NX_P09466 20624 180 5.36 9 Secreted NA 0 PE1 -NX_P09467 36842 338 6.54 9 Mitochondrion Fructose-1,6-bisphosphatase deficiency 0 PE1 -NX_P09471 40051 354 5.34 16 Cell membrane;Membrane Neurodevelopmental disorder with involuntary movements;Epileptic encephalopathy, early infantile, 17 0 PE1 -NX_P09486 34632 303 4.73 5 Basement membrane Osteogenesis imperfecta 17 0 PE1 -NX_P09488 25712 218 6.24 1 Cytoplasm NA 0 PE1 -NX_P09493 32709 284 4.69 15 Cytoplasm;Cytoskeleton Cardiomyopathy, dilated 1Y;Cardiomyopathy, familial hypertrophic 3;Left ventricular non-compaction 9 0 PE1 -NX_P09496 27077 248 4.43 9 Endosome;Lysosome;Cytoplasmic vesicle membrane;Coated pit;Spindle NA 0 PE1 -NX_P09497 25190 229 4.57 5 Cytosol;Cell membrane;Cytoplasmic vesicle;Coated pit;Cytoplasmic vesicle membrane NA 0 PE1 -NX_P09525 35883 319 5.84 2 Cytosol NA 0 PE1 -NX_P09529 45122 407 8.35 2 Secreted;Nucleoplasm NA 0 PE1 -NX_P09543 47579 421 9.17 17 Cytosol;Membrane;Nucleus;Melanosome NA 0 PE1 -NX_P09544 40418 360 9.06 7 Extracellular matrix;Cytoplasmic vesicle NA 0 PE1 -NX_P09564 25409 240 6.87 17 Membrane NA 1 PE1 -NX_P09565 12087 113 9.65 11 NA NA 0 PE1 -NX_P09601 32819 288 7.89 22 Cell membrane;Microsome;Endoplasmic reticulum membrane;Golgi apparatus Heme oxygenase 1 deficiency 0 PE1 -NX_P09603 60179 554 5.16 1 Cell membrane;Extracellular space;Cell membrane NA 1 PE1 -NX_P09619 123968 1106 4.88 5 Cytosol;Cell membrane;Cytoplasmic vesicle;Lysosome lumen;Cytoplasmic vesicle Basal ganglia calcification, idiopathic, 4;Leukemia, acute myelogenous;Leukemia, juvenile myelomonocytic;Myofibromatosis, infantile 1;Myeloproliferative disorder chronic with eosinophilia;Kosaki overgrowth syndrome;Premature aging syndrome, Penttinen type 1 PE1 -NX_P09622 54177 509 7.95 7 Mitochondrion matrix;Acrosome;Flagellum;Mitochondrion Dihydrolipoamide dehydrogenase deficiency 0 PE1 -NX_P09629 24015 217 8.83 17 Cytosol;Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_P09630 26915 235 9.18 12 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P09651 38747 372 9.17 12 Nucleus;Cytoplasm;Nucleus Amyotrophic lateral sclerosis 20;Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 0 PE1 -NX_P09661 28416 255 8.71 15 Nucleus speckle;Nucleus NA 0 PE1 -NX_P09668 37394 335 8.35 15 Cytosol;Cytoplasmic vesicle;Cytosol;Lysosome NA 0 PE1 -NX_P09669 8781 75 10.38 8 Mitochondrion inner membrane;Mitochondrion NA 1 PE1 -NX_P09681 17108 153 7.8 17 Secreted NA 0 PE1 -NX_P09683 13016 121 11.27 11 Secreted NA 0 PE1 -NX_P09693 20469 182 8.6 11 Cell membrane Immunodeficiency 17 1 PE1 -NX_P09758 35709 323 9.14 1 Nucleolus;Cell membrane;Cytoplasmic vesicle;Membrane Corneal dystrophy, gelatinous drop-like 1 PE1 -NX_P09769 59479 529 5.41 1 Mitochondrion intermembrane space;Cytosol;Cell membrane;Ruffle membrane;Cell membrane;Cell membrane;Cytoskeleton;Mitochondrion inner membrane NA 0 PE1 -NX_P09848 218587 1927 5.9 2 Apical cell membrane Congenital lactase deficiency 1 PE1 -NX_P09871 76684 688 4.86 12 Nucleus;Cytosol Complement component C1s deficiency;Ehlers-Danlos syndrome, periodontal type, 2 0 PE1 -NX_P09874 113084 1014 8.99 1 Nucleolus;Nucleus;Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_P09884 165913 1462 5.61 X Nucleus;Nucleoplasm;Cytosol;Cytosol Pigmentary disorder, reticulate, with systemic manifestations, X-linked 0 PE1 -NX_P09912 12927 130 5.27 1 Membrane;Mitochondrion NA 2 PE1 -NX_P09913 54632 472 6.32 10 Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle NA 0 PE1 -NX_P09914 55360 478 6.75 10 Cytosol;Cytoplasm NA 0 PE1 -NX_P09917 77983 674 5.51 10 Nucleoplasm;Nucleus matrix;Nucleus membrane;Cytoplasm NA 0 PE1 -NX_P09919 22293 207 5.61 17 Secreted NA 0 PE1 -NX_P09923 56812 528 5.53 2 Cell membrane NA 0 PE1 -NX_P09936 24824 223 5.33 4 Cytosol;Cytoplasm;Nucleoplasm;Endoplasmic reticulum membrane Spastic paraplegia 79, autosomal recessive;Parkinson disease 5 0 PE1 -NX_P09958 86678 794 6.01 15 trans-Golgi network membrane;Golgi apparatus;Nucleoplasm;Secreted;Endosome membrane;Cell membrane NA 1 PE1 -NX_P09960 69285 611 5.8 12 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_P09972 39456 364 6.41 17 Cytoplasmic vesicle;Nucleus;Cytosol;Nucleolus NA 0 PE1 -NX_P0C024 26942 238 6.55 16 Peroxisome NA 0 PE1 -NX_P0C025 35923 328 6.2 1 Centrosome;Cytosol NA 0 PE1 -NX_P0C091 238179 2139 5.14 4 Extracellular matrix NA 0 PE3 -NX_P0C0E4 31239 278 9.64 X Membrane;Cytoplasm;Mitochondrion Mental retardation, X-linked, syndromic, Martin-Probst type 0 PE1 -NX_P0C0L4 192785 1744 6.66 6 Synapse;Axon;Dendrite;Secreted Complement component 4A deficiency;Systemic lupus erythematosus 0 PE1 -NX_P0C0L5 192751 1744 6.89 6 Secreted;Synapse;Axon;Dendrite Systemic lupus erythematosus;Complement component 4B deficiency 0 PE1 -NX_P0C0P6 10103 89 10.3 10 Secreted NA 0 PE3 -NX_P0C0S5 13553 128 10.58 4 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_P0C0S8 14091 130 10.9 6 Nucleus;Chromosome NA 0 PE1 -NX_P0C1H6 17001 154 10.08 X Nucleus;Chromosome NA 0 PE1 -NX_P0C1S8 62925 567 6.06 7 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_P0C1Z6 28278 253 5.19 19 Nucleus;Nucleoplasm;Nucleus membrane;Nucleus NA 0 PE1 -NX_P0C221 93626 793 6.34 14 Nucleus;Nucleolus;Cytosol NA 0 PE1 -NX_P0C263 38088 348 5.3 19 NA NA 0 PE1 -NX_P0C264 38488 359 4.71 19 NA NA 0 PE2 -NX_P0C2L3 18190 166 4.86 9 Nucleus;Membrane;Cell membrane;Cytosol NA 1 PE1 -NX_P0C2S0 8980 81 4.36 15 Membrane NA 1 PE3 -NX_P0C2W1 30633 286 8.01 3 Presynaptic cell membrane;Postsynaptic cell membrane;Cytosol NA 0 PE1 -NX_P0C2W7 31319 299 4.11 X NA NA 0 PE1 -NX_P0C2Y1 48090 421 4.73 1 Cytoplasm NA 0 PE5 -NX_P0C5J1 36771 330 5.85 8 NA NA 0 PE1 -NX_P0C5K6 3500 33 9.5 X NA NA 0 PE5 -NX_P0C5K7 15412 136 9.08 15 NA NA 0 PE2 -NX_P0C5Y4 12324 121 6.14 17 NA NA 0 PE2 -NX_P0C5Y9 12697 115 10.67 X Nucleus;Chromosome NA 0 PE1 -NX_P0C5Z0 12713 115 10.67 X Nucleus;Chromosome NA 0 PE1 -NX_P0C604 35621 315 7.93 11 Cell membrane NA 7 PE3 -NX_P0C617 36816 328 7.52 11 Cell membrane NA 7 PE3 -NX_P0C623 35487 313 8.63 14 Cell membrane NA 7 PE3 -NX_P0C626 35647 314 8.86 11 Cell membrane NA 7 PE3 -NX_P0C628 34762 307 9.22 3 Cell membrane NA 7 PE3 -NX_P0C629 34891 311 9.2 1 Cell membrane NA 7 PE3 -NX_P0C645 35862 316 8.43 14 Cell membrane NA 7 PE3 -NX_P0C646 33279 297 9.02 11 Cell membrane NA 7 PE3 -NX_P0C671 71930 652 8.7 6 NA NA 0 PE1 -NX_P0C672 28460 248 7.55 12 Membrane NA 3 PE5 -NX_P0C6A0 29628 271 9.34 19 Cytoplasmic vesicle;Nucleus;Nucleus NA 0 PE1 -NX_P0C6C1 58256 535 9.15 15 Mitochondrion NA 0 PE3 -NX_P0C6P0 11233 100 8.77 15 NA NA 0 PE5 -NX_P0C6S8 64881 592 8.94 19 Mitochondrion;Membrane NA 1 PE1 -NX_P0C6T2 4193 37 6.52 2 Endoplasmic reticulum;Endoplasmic reticulum membrane NA 1 PE1 -NX_P0C7A2 43591 387 4.71 5 NA NA 0 PE2 -NX_P0C7H8 13480 128 8.32 17 NA NA 0 PE1 -NX_P0C7H9 59751 530 8.09 8 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_P0C7I0 59635 530 7.3 8 Nucleus;Endoplasmic reticulum NA 0 PE3 -NX_P0C7I6 46012 412 5.88 19 Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_P0C7L1 10821 97 4.9 3 Secreted NA 0 PE2 -NX_P0C7M3 10526 94 6.81 14 Secreted;Cytoplasm NA 0 PE1 -NX_P0C7M4 31637 288 4.52 X Nucleus NA 0 PE1 -NX_P0C7M6 18251 154 10.51 3 NA NA 0 PE1 -NX_P0C7M7 65703 580 8.84 12 Mitochondrion matrix NA 0 PE2 -NX_P0C7M8 23927 214 6.83 7 Membrane NA 1 PE1 -NX_P0C7N1 36334 319 8.77 11 Cell membrane NA 7 PE3 -NX_P0C7N4 39065 346 8.39 22 Membrane NA 1 PE2 -NX_P0C7N5 35054 309 8.4 11 Cell membrane NA 7 PE3 -NX_P0C7N8 34020 305 8.1 11 Cell membrane NA 7 PE3 -NX_P0C7P0 14216 127 10.56 17 Mitochondrion NA 0 PE1 -NX_P0C7P1 55775 496 9.95 Y Nucleus NA 0 PE2 -NX_P0C7P2 11739 107 10.07 22 NA NA 0 PE2 -NX_P0C7P3 103907 912 8.57 17 Nucleus Bleeding disorder, platelet-type 20 0 PE1 -NX_P0C7P4 30815 283 9.04 22 NA NA 0 PE5 -NX_P0C7Q2 11437 107 9.03 10 Cytoplasm Macular degeneration, age-related, 8 0 PE1 -NX_P0C7Q3 28609 252 4.92 1 NA NA 0 PE5 -NX_P0C7Q5 35378 338 6.77 18 Membrane NA 7 PE5 -NX_P0C7Q6 35103 338 6.11 17 Membrane NA 9 PE2 -NX_P0C7T2 34287 308 8.56 1 Cell membrane NA 7 PE3 -NX_P0C7T3 35317 313 9.02 11 Cell membrane NA 7 PE3 -NX_P0C7T4 6023 53 5.01 18 NA NA 0 PE1 -NX_P0C7T5 73306 689 6.13 16 Nucleus;Nucleus;Dendrite NA 0 PE1 -NX_P0C7T7 38799 363 11.74 14 NA NA 0 PE5 -NX_P0C7T8 23522 217 6.71 14 Membrane NA 4 PE2 -NX_P0C7U0 90477 828 8.67 7 Dendrite;Membrane NA 1 PE1 -NX_P0C7U1 19025 165 9.1 10 NA NA 0 PE2 -NX_P0C7U3 41895 371 8.88 5 Membrane NA 5 PE3 -NX_P0C7U9 31739 286 10.05 8 Membrane NA 2 PE2 -NX_P0C7V0 29146 271 11.35 6 NA NA 0 PE5 -NX_P0C7V4 49895 464 9.95 8 NA NA 0 PE5 -NX_P0C7V6 87541 817 9.02 X NA NA 0 PE5 -NX_P0C7V7 19160 166 9.66 8 Membrane NA 1 PE5 -NX_P0C7V8 71191 631 4.64 X NA NA 0 PE1 -NX_P0C7V9 26716 234 5.61 3 NA NA 0 PE5 -NX_P0C7W0 20715 189 4.83 17 Nucleolus NA 0 PE2 -NX_P0C7W6 31035 258 5.01 10 Cilium;Cytoplasm NA 0 PE1 -NX_P0C7W8 49853 464 9.95 8 NA NA 0 PE5 -NX_P0C7W9 49953 464 9.9 8 NA NA 0 PE5 -NX_P0C7X0 49829 464 9.95 8 NA NA 0 PE5 -NX_P0C7X1 62219 549 9.2 17 Cell membrane NA 0 PE2 -NX_P0C7X2 30575 276 9.42 16 Nucleus;Cell membrane;Nucleoplasm;Cell junction NA 0 PE1 -NX_P0C7X3 39078 344 7.28 16 NA NA 0 PE3 -NX_P0C7X4 22644 201 6.65 X NA NA 0 PE5 -NX_P0C7X5 67808 589 8.76 2 Nucleus NA 0 PE3 -NX_P0C841 5233 47 6.01 8 NA NA 0 PE5 -NX_P0C842 13547 121 4.49 10 NA NA 0 PE5 -NX_P0C843 12082 101 10.05 9 NA NA 0 PE5 -NX_P0C851 15334 137 9.86 17 Membrane;Cell membrane;Cytosol NA 2 PE2 -NX_P0C853 11579 105 5.82 8 NA NA 0 PE5 -NX_P0C854 23602 216 10.5 22 Secreted NA 0 PE5 -NX_P0C860 51070 447 8.6 2 Nucleus NA 0 PE5 -NX_P0C862 34681 333 8.59 13 Secreted NA 0 PE1 -NX_P0C864 16785 163 10.29 4 NA NA 0 PE5 -NX_P0C866 30847 280 5.49 1 NA NA 0 PE5 -NX_P0C869 87978 781 5.64 15 Early endosome membrane;Cytosol;Mitochondrion membrane NA 0 PE1 -NX_P0C870 35932 316 5.22 15 NA NA 0 PE1 -NX_P0C874 102419 917 8.32 9 Membrane NA 1 PE5 -NX_P0C875 37405 321 9.37 2 Golgi apparatus NA 0 PE1 -NX_P0C879 14498 139 12 10 NA NA 0 PE5 -NX_P0C880 14177 135 11.84 20 NA NA 0 PE5 -NX_P0C881 100635 870 7.16 7 NA NA 0 PE2 -NX_P0C8F1 11407 98 8.97 11 Acrosome;Secreted NA 0 PE1 -NX_P0CAP1 54206 466 5.91 15 Cytoskeleton;Cell membrane;I band;Z line;Cell junction NA 0 PE1 -NX_P0CAP2 41740 368 6.01 15 Nucleus envelope;Nucleus NA 0 PE1 -NX_P0CAT3 13375 122 10.82 10 NA NA 0 PE5 -NX_P0CB33 47565 412 9.31 7 Nucleus NA 0 PE5 -NX_P0CB38 41854 370 9.53 4 NA NA 0 PE1 -NX_P0CB47 46134 393 9.52 11 Cytoplasm;Nucleus NA 0 PE3 -NX_P0CB48 46551 400 9.11 2 Nucleus NA 0 PE5 -NX_P0CE67 11337 100 9.02 3 NA NA 0 PE4 -NX_P0CE71 12129 109 4.11 7 NA NA 0 PE5 -NX_P0CE72 12184 109 4.19 7 NA NA 0 PE1 -NX_P0CF51 19804 173 7.7 7 Membrane NA 1 PE1 -NX_P0CF74 11277 106 6.91 22 Secreted;Cell membrane NA 0 PE1 -NX_P0CF75 40313 366 7 10 NA NA 0 PE2 -NX_P0CF97 76034 657 8.33 4 NA NA 0 PE2 -NX_P0CG00 56244 497 8.95 19 Nucleus NA 0 PE5 -NX_P0CG01 20221 181 8.64 2 Secreted NA 0 PE3 -NX_P0CG04 11348 106 7.89 22 Secreted;Cell membrane NA 0 PE1 -NX_P0CG08 52917 455 9.34 1 Golgi apparatus membrane NA 9 PE1 -NX_P0CG12 51391 524 12.42 16 Nucleus;Nucleoplasm NA 0 PE1 -NX_P0CG13 13314 121 7.9 16 Nucleus NA 0 PE1 -NX_P0CG20 59354 571 9.16 16 NA NA 0 PE1 -NX_P0CG21 12631 123 4.78 16 NA NA 0 PE1 -NX_P0CG22 30608 281 9.81 14 NA NA 0 PE5 -NX_P0CG23 74878 659 5.19 7 Nucleolus NA 0 PE1 -NX_P0CG24 43967 379 9.03 9 Nucleus NA 0 PE2 -NX_P0CG29 27506 244 6.53 22 Cytoplasm NA 0 PE1 -NX_P0CG30 27507 244 5.99 22 Cytoplasm NA 0 PE1 -NX_P0CG31 59572 522 8.7 17 Nucleus speckle;Nucleus;Cytosol NA 0 PE5 -NX_P0CG32 45160 403 7.02 X NA NA 0 PE3 -NX_P0CG33 79896 693 5.37 15 NA NA 0 PE2 -NX_P0CG34 5229 45 5.31 X Cytoskeleton NA 0 PE1 -NX_P0CG35 5229 45 5.31 X Cytoskeleton NA 0 PE1 -NX_P0CG36 24642 223 9.04 2 Secreted NA 0 PE3 -NX_P0CG37 24612 223 9.14 2 Cell membrane;Secreted Heterotaxy, visceral, 2, autosomal 0 PE1 -NX_P0CG38 121282 1075 5.83 2 NA NA 0 PE1 -NX_P0CG39 117390 1038 5.66 2 NA NA 0 PE1 -NX_P0CG40 48915 484 9.05 2 Nucleus;Mitochondrion NA 0 PE1 -NX_P0CG41 88077 777 5.23 7 Membrane NA 1 PE2 -NX_P0CG42 43129 384 11.41 9 NA NA 0 PE3 -NX_P0CG43 43408 387 11.19 16 NA NA 0 PE3 -NX_P0CG47 25762 229 6.86 17 Cytoplasm;Nucleus NA 0 PE1 -NX_P0CG48 77039 685 7.16 12 Nucleus speckle;Cytoplasm;Nucleus NA 0 PE1 -NX_P0CH98 18676 169 5.62 17 NA NA 0 PE5 -NX_P0CH99 34712 300 9.14 8 Nucleus NA 0 PE2 -NX_P0CI00 34732 300 9.08 8 Nucleus NA 0 PE5 -NX_P0CI01 48349 402 9.83 7 NA NA 0 PE4 -NX_P0CI25 52888 452 7.53 11 NA NA 0 PE2 -NX_P0CI26 52933 452 7.28 11 NA NA 0 PE2 -NX_P0CJ68 2691 24 9.49 17 Cytoplasm;Secreted NA 0 PE2 -NX_P0CJ69 3081 28 7.98 5 Secreted;Cytoplasm NA 0 PE2 -NX_P0CJ70 2796 24 10.69 20 Cytoplasm;Secreted NA 0 PE2 -NX_P0CJ71 3247 28 9.19 16 Cytoplasm;Secreted NA 0 PE2 -NX_P0CJ72 2666 24 7.98 10 Cytoplasm;Secreted NA 0 PE2 -NX_P0CJ73 2719 24 9.49 7 Secreted;Cytoplasm NA 0 PE2 -NX_P0CJ74 2647 24 7.98 10 Secreted;Cytoplasm NA 0 PE2 -NX_P0CJ75 2661 24 9.49 11 Secreted;Cytoplasm NA 0 PE2 -NX_P0CJ76 2694 24 11.54 6 Secreted;Cytoplasm NA 0 PE2 -NX_P0CJ77 2806 24 10.69 X Secreted;Cytoplasm NA 0 PE2 -NX_P0CJ78 111077 1059 9.4 19 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_P0CJ79 58727 500 9.28 19 Nucleus NA 0 PE1 -NX_P0CJ85 44926 424 8.72 4 Nucleus NA 0 PE3 -NX_P0CJ86 44926 424 8.72 4 Nucleus NA 0 PE3 -NX_P0CJ87 44826 422 8.36 4 Nucleus NA 0 PE3 -NX_P0CJ88 44926 424 8.72 4 Nucleus NA 0 PE3 -NX_P0CJ89 44926 424 8.72 4 Nucleus NA 0 PE3 -NX_P0CJ90 44926 424 8.72 4 Nucleus NA 0 PE3 -NX_P0CJ92 71342 632 8.15 15 NA NA 0 PE3 -NX_P0CK96 43777 405 8.65 1 Membrane NA 10 PE1 -NX_P0CK97 29079 266 8.28 1 Nucleus;Membrane NA 4 PE2 -NX_P0CL80 12978 117 4.3 X NA NA 0 PE1 -NX_P0CL81 12978 117 4.3 X NA NA 0 PE3 -NX_P0CL82 12978 117 4.3 X NA NA 0 PE1 -NX_P0CL83 23775 205 7.61 7 Nucleus NA 0 PE5 -NX_P0CL84 15630 134 8.27 7 Nucleus NA 0 PE5 -NX_P0CL85 15609 134 7.57 7 Nucleus NA 0 PE2 -NX_P0CV98 35101 308 5.23 Y Nucleus;Cytoplasm NA 0 PE1 -NX_P0CV99 35727 314 5.12 Y Cytoplasm;Nucleus NA 0 PE2 -NX_P0CW00 35147 308 5.16 Y Cytoplasm;Nucleus NA 0 PE2 -NX_P0CW01 35727 314 5.12 Y Cytoplasm;Nucleus NA 0 PE3 -NX_P0CW18 64597 603 9.15 2 NA Microphthalmia, isolated, 6 0 PE1 -NX_P0CW19 13251 117 5.38 2 Cytoplasm NA 0 PE2 -NX_P0CW20 13251 117 5.38 2 NA NA 0 PE1 -NX_P0CW21 6167 52 9.69 13 NA NA 0 PE5 -NX_P0CW23 7848 69 6.73 18 NA NA 0 PE1 -NX_P0CW24 43875 399 5.24 X Nucleolus;Mitochondrion NA 0 PE1 -NX_P0CW27 48709 439 10.6 8 NA NA 0 PE1 -NX_P0CW71 32982 290 4.84 unknown Nucleus;Chromosome NA 0 PE5 -NX_P0CZ25 17537 163 9.57 12 NA NA 0 PE2 -NX_P0DH78 16549 156 7.43 9 NA NA 0 PE4 -NX_P0DI80 7017 62 3.72 17 Membrane;Nucleus NA 1 PE2 -NX_P0DI81 16445 140 6.02 X Cytoplasm;Nucleus;Perinuclear region;Endoplasmic reticulum-Golgi intermediate compartment Spondyloepiphyseal dysplasia tarda 0 PE1 -NX_P0DI82 16445 140 6.02 19 Perinuclear region;Endoplasmic reticulum-Golgi intermediate compartment;Cytoplasm;Nucleus NA 0 PE1 -NX_P0DI83 21118 198 12.15 17 Nucleus;Nucleolus NA 0 PE1 -NX_P0DJ07 9114 73 6.31 19 Membrane;Mitochondrion NA 1 PE1 -NX_P0DJ93 10351 91 6.17 6 Golgi apparatus;Nucleus membrane;Membrane;Nucleus NA 1 PE1 -NX_P0DJD0 196662 1748 5.8 2 NA NA 0 PE2 -NX_P0DJD1 197308 1756 5.85 2 NA NA 0 PE2 -NX_P0DJD3 55784 496 9.95 Y Nucleus NA 0 PE1 -NX_P0DJD4 55784 496 9.93 Y Nucleus NA 0 PE1 -NX_P0DJD7 41977 388 4.16 11 Secreted NA 0 PE1 -NX_P0DJD8 41976 388 4.22 11 Secreted NA 0 PE1 -NX_P0DJD9 41993 388 4.21 11 Secreted NA 0 PE1 -NX_P0DJG4 53028 465 9.33 4 NA NA 0 PE1 -NX_P0DJH9 23209 198 5.98 14 NA NA 0 PE2 -NX_P0DJI8 13532 122 6.28 11 Secreted NA 0 PE1 -NX_P0DJI9 13527 122 9.2 11 Secreted NA 0 PE1 -NX_P0DJJ0 53484 459 5.98 1 NA NA 0 PE1 -NX_P0DJR0 24463 217 8.18 4 NA NA 0 PE2 -NX_P0DKB5 40400 382 8.64 11 Membrane NA 1 PE1 -NX_P0DKB6 15138 136 9.95 X Membrane NA 2 PE1 -NX_P0DKL9 17712 152 8.71 5 NA NA 0 PE4 -NX_P0DKV0 130522 1188 9.52 9 Membrane NA 1 PE1 -NX_P0DKX0 71801 622 9.32 19 NA NA 0 PE2 -NX_P0DKX4 11088 95 6.7 8 Nucleus;Centrosome;Membrane NA 1 PE2 -NX_P0DL12 13332 118 4.56 19 Cytoplasmic vesicle;Membrane NA 1 PE4 -NX_P0DM35 6094 61 8.75 1 NA NA 0 PE3 -NX_P0DM63 42230 369 9.22 16 NA NA 0 PE2 -NX_P0DMB1 31050 279 6.08 8 NA NA 0 PE2 -NX_P0DMB2 13372 117 9.81 8 NA NA 0 PE1 -NX_P0DMC3 6622 54 12.22 4 Extracellular space;Secreted NA 0 PE1 -NX_P0DME0 34882 302 4.2 1 Nucleus;Cytoplasm NA 0 PE1 -NX_P0DML2 25020 217 5.34 17 Secreted NA 0 PE1 -NX_P0DML3 24994 217 5.34 17 Secreted NA 0 PE1 -NX_P0DMM9 34196 295 5.68 16 Cytoplasm NA 0 PE1 -NX_P0DMN0 34196 295 5.68 16 Cytoplasm NA 0 PE1 -NX_P0DMP1 2961 27 9.49 3 Secreted;Cytoplasm NA 0 PE2 -NX_P0DMP2 53406 458 6.46 1 NA NA 0 PE2 -NX_P0DMQ5 15439 153 9.3 15 Membrane NA 1 PE1 -NX_P0DMQ9 18160 161 9.49 8 NA NA 0 PE2 -NX_P0DMR1 32029 293 5.48 1 Nucleus NA 0 PE1 -NX_P0DMR2 10457 95 4.7 17 Secreted NA 0 PE3 -NX_P0DMR3 22759 200 8.47 13 Cytoplasm NA 0 PE5 -NX_P0DMS8 36185 318 9.11 1 Cell membrane NA 7 PE1 -NX_P0DMS9 30327 266 8.9 1 Membrane NA 2 PE1 -NX_P0DMT0 5194 46 5.97 10 Sarcoplasmic reticulum membrane NA 1 PE2 -NX_P0DMU2 34506 310 7.57 11 Cell membrane NA 7 PE5 -NX_P0DMU3 18266 169 8.91 1 NA NA 0 PE3 -NX_P0DMU4 18266 169 8.91 1 NA NA 0 PE3 -NX_P0DMU5 18266 169 8.91 1 NA NA 0 PE3 -NX_P0DMU7 21232 189 9.72 X NA NA 0 PE2 -NX_P0DMU8 21232 189 9.72 X NA NA 0 PE2 -NX_P0DMU9 21145 189 9.61 X NA NA 0 PE1 -NX_P0DMV0 21232 189 9.72 X NA NA 0 PE3 -NX_P0DMV1 21363 189 9.67 X NA NA 0 PE3 -NX_P0DMV2 21363 189 9.67 X NA NA 0 PE3 -NX_P0DMV8 70052 641 5.48 6 Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_P0DMV9 70052 641 5.48 6 Cytoplasm;Centrosome NA 0 PE1 -NX_P0DMW2 4993 45 5.92 X Nucleus;Cytoplasm NA 0 PE2 -NX_P0DMW3 9236 83 10.36 12 Membrane NA 1 PE1 -NX_P0DMW4 8389 78 11.25 X NA NA 0 PE2 -NX_P0DMW5 8389 78 11.25 X NA NA 0 PE2 -NX_P0DN24 10933 101 7.77 3 NA NA 0 PE1 -NX_P0DN25 36396 315 5.41 2 Membrane NA 1 PE2 -NX_P0DN26 18197 164 9.43 1 Cytoplasm NA 0 PE3 -NX_P0DN37 18166 164 9.19 1 Cytoplasm NA 0 PE3 -NX_P0DN76 27872 240 9.09 21 Nucleus;Nucleus speckle NA 0 PE1 -NX_P0DN77 40584 364 8.9 X Cell membrane NA 7 PE3 -NX_P0DN78 40584 364 8.9 X Cell membrane NA 7 PE3 -NX_P0DN79 60587 551 6.2 21 Cytoplasm;Nucleus NA 0 PE1 -NX_P0DN80 34772 308 7.05 3 Cell membrane NA 7 PE3 -NX_P0DN81 34899 318 9.01 9 Cell membrane NA 7 PE3 -NX_P0DN82 35330 309 9.29 6 Cell membrane NA 7 PE3 -NX_P0DN84 3765 34 6.5 3 Sarcoplasmic reticulum membrane NA 1 PE3 -NX_P0DN86 17739 165 8.49 19 Secreted NA 0 PE1 -NX_P0DN87 17757 165 8.66 19 Secreted NA 0 PE2 -NX_P0DO92 9002 83 8.53 16 NA NA 0 PE1 -NX_P0DO97 32479 292 4.98 5 NA NA 0 PE1 -NX_P0DOY2 11294 106 6.91 22 Cell membrane;Secreted NA 0 PE1 -NX_P0DOY3 11266 106 6.91 22 Secreted;Cell membrane NA 0 PE1 -NX_P0DOY5 435 5 5.53 14 Cell membrane;Secreted NA 0 PE4 -NX_P0DP01 12992 117 9.26 14 Secreted;Cell membrane NA 0 PE1 -NX_P0DP02 12989 117 9.12 14 Secreted;Cell membrane NA 0 PE3 -NX_P0DP03 12947 117 9.1 14 Secreted;Cell membrane NA 0 PE3 -NX_P0DP04 13017 118 5.28 14 Cell membrane;Secreted NA 0 PE3 -NX_P0DP06 13156 118 9.33 14 Secreted;Cell membrane NA 0 PE3 -NX_P0DP07 13095 118 9.33 14 Secreted;Cell membrane NA 0 PE1 -NX_P0DP08 13016 117 9.36 14 Secreted;Cell membrane NA 0 PE1 -NX_P0DP09 12569 117 7.68 2 Secreted;Cell membrane NA 0 PE1 -NX_P0DP23 16838 149 4.09 14 Spindle pole;Spindle Long QT syndrome 14;Ventricular tachycardia, catecholaminergic polymorphic, 4 0 PE1 -NX_P0DP24 16838 149 4.09 2 Spindle pole;Spindle Long QT syndrome 15 0 PE1 -NX_P0DP25 16838 149 4.09 19 Spindle pole;Spindle NA 0 PE1 -NX_P0DP42 25027 221 5.35 7 Membrane NA 0 PE1 -NX_P0DP57 10160 97 6.14 8 Secreted NA 0 PE1 -NX_P0DP58 12641 116 8.04 8 Dendrite;Cell membrane;Endoplasmic reticulum NA 0 PE1 -NX_P0DP71 8682 79 8.8 X NA NA 0 PE3 -NX_P0DP72 81629 767 5.95 11 Membrane NA 1 PE3 -NX_P0DP73 8736 79 9.47 8 Secreted NA 0 PE2 -NX_P0DP74 8736 79 9.47 8 Secreted NA 0 PE2 -NX_P0DP75 14289 135 12.24 X NA NA 0 PE5 -NX_P0DP91 119487 1061 6.15 10 Nucleus Premature ovarian failure 11 0 PE1 -NX_P0DPA2 43891 414 6.84 1 Membrane NA 1 PE1 -NX_P0DPA3 25086 235 9.42 1 NA NA 0 PE5 -NX_P0DPB3 53480 487 4.98 3 Cytoplasm NA 0 PE1 -NX_P0DPB5 14332 122 9.88 13 NA NA 0 PE1 -NX_P0DPB6 15237 133 5.55 13 Nucleus Treacher Collins syndrome 2 0 PE1 -NX_P10070 167783 1586 6.9 2 Cytoplasm;Nucleus;Nucleolus;Nucleus;Cilium Culler-Jones syndrome;Holoprosencephaly 9 0 PE1 -NX_P10071 169863 1580 7.02 7 Nucleus;Cilium;Cytoplasm Greig cephalo-poly-syndactyly syndrome;Pallister-Hall syndrome;Polydactyly, postaxial A1;Polydactyly, postaxial B;Polydactyly preaxial 4 0 PE1 -NX_P10072 75128 659 9.44 19 Nucleoplasm;Nucleus;Golgi apparatus;Mitochondrion NA 0 PE1 -NX_P10073 54561 491 7.36 19 Nucleus;Nucleus;Cytosol;Cytoskeleton;Cell membrane NA 0 PE1 -NX_P10074 77054 688 8.55 1 Nucleoplasm;Cytosol;Telomere;Nucleus NA 0 PE1 -NX_P10075 41145 376 9.13 8 Nucleus;Nucleus;Cytoskeleton NA 0 PE1 -NX_P10082 11145 97 7.88 17 Secreted NA 0 PE1 -NX_P10092 13706 127 10.1 11 Secreted NA 0 PE1 -NX_P10109 19393 184 5.51 11 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_P10114 20615 183 4.73 13 Midbody;Recycling endosome membrane NA 0 PE1 -NX_P10124 17652 158 4.81 10 Extracellular space;Cytoplasmic granule;Golgi apparatus NA 0 PE1 -NX_P10144 27716 247 9.62 14 Cytoplasmic granule NA 0 PE1 -NX_P10145 11098 99 9.1 4 Golgi apparatus;Secreted NA 0 PE1 -NX_P10147 10085 92 4.77 17 Secreted NA 0 PE1 -NX_P10153 18354 161 9.1 14 Lysosome;Cytoplasmic granule NA 0 PE1 -NX_P10155 60671 538 8.27 1 Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_P10163 31326 310 10.52 12 Secreted NA 0 PE1 -NX_P10176 7579 69 10.26 11 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_P10242 72341 640 6.35 6 Cell membrane;Nucleus;Nucleus NA 0 PE1 -NX_P10243 85887 752 6.69 8 Nucleus;Cytosol;Nucleolus;Nucleus NA 0 PE1 -NX_P10244 78764 700 6.43 20 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_P10253 105324 952 5.62 17 Lysosome;Lysosome membrane Glycogen storage disease 2 0 PE1 -NX_P10265 17108 156 5.86 5 NA NA 0 PE1 -NX_P10266 114827 1014 9.11 5 NA NA 0 PE3 -NX_P10275 99188 920 6.01 X Mitochondrion;Cytoplasm;Nucleus Androgen insensitivity syndrome;Androgen insensitivity, partial;Spinal and bulbar muscular atrophy X-linked 1 0 PE1 -NX_P10276 50771 462 8.21 17 Nucleus;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_P10301 23480 218 6.43 19 Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_P10314 41048 365 6.02 6 Membrane NA 1 PE1 -NX_P10316 40977 365 6.42 6 Membrane NA 1 PE1 -NX_P10319 40337 362 5.9 6 Membrane NA 1 PE1 -NX_P10321 40649 366 5.71 6 Membrane NA 1 PE1 -NX_P10323 45847 421 9.26 22 NA NA 0 PE1 -NX_P10398 67585 606 9.2 X Nucleolus;Nucleus NA 0 PE1 -NX_P10412 21865 219 11.03 6 Nucleus speckle;Nucleus;Chromosome Rahman syndrome 0 PE1 -NX_P10415 26266 239 6.75 18 Endoplasmic reticulum membrane;Mitochondrion outer membrane;Nucleus membrane;Nucleoplasm;Nucleus membrane NA 1 PE1 -NX_P10451 35423 314 4.37 4 Golgi apparatus;Golgi apparatus;Secreted NA 0 PE1 -NX_P10515 68997 647 7.96 11 Mitochondrion matrix;Mitochondrion Pyruvate dehydrogenase E2 deficiency 0 PE1 -NX_P10523 45120 405 6.14 2 NA Night blindness, congenital stationary, Oguchi type 1;Retinitis pigmentosa 47 0 PE1 -NX_P10586 212879 1907 5.92 1 Membrane;Golgi apparatus Aplasia or hypoplasia of the breasts and/or nipples 2 1 PE1 -NX_P10588 42979 404 7.96 19 Nucleus NA 0 PE1 -NX_P10589 46156 423 8.62 5 Cytosol;Nucleoplasm;Nucleus Bosch-Boonstra-Schaaf optic atrophy syndrome 0 PE1 -NX_P10599 11737 105 4.82 9 Nucleus;Cytoplasm;Nucleolus;Nucleus;Nucleus;Cytosol;Cytoplasm;Secreted NA 0 PE1 -NX_P10600 47328 412 8.31 14 Secreted;Cytoplasmic vesicle Arrhythmogenic right ventricular dysplasia, familial, 1;Loeys-Dietz syndrome 5 0 PE1 -NX_P10606 13696 129 9.07 2 Mitochondrion inner membrane;Mitochondrion NA 0 PE1 -NX_P10619 54466 480 6.16 20 Lysosome;Cytoplasmic vesicle Galactosialidosis 0 PE1 -NX_P10620 17599 155 9.41 12 Endoplasmic reticulum;Mitochondrion;Microsome;Mitochondrion outer membrane;Endoplasmic reticulum membrane NA 4 PE1 -NX_P10632 55825 490 8.8 10 Microsome membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_P10635 55769 497 6.77 22 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P10636 78928 758 6.25 17 Cytoskeleton;Cell membrane;Nucleus speckle;Cytosol;Cell membrane;Cytoskeleton;Axon Frontotemporal dementia;Pick disease of the brain;Progressive supranuclear palsy 1;Parkinson-dementia syndrome 0 PE1 -NX_P10643 93518 843 6.09 5 Secreted Complement component 7 deficiency 0 PE1 -NX_P10644 42982 381 5.27 17 Cytosol;Cell membrane Carney complex 1;Intracardiac myxoma;Primary pigmented nodular adrenocortical disease 1;Acrodysostosis 1, with or without hormone resistance 0 PE1 -NX_P10645 50688 457 4.58 14 Cytoplasmic vesicle;Secreted;Secretory vesicle lumen;Secretory vesicle membrane;Secreted;Secretory vesicle NA 0 PE1 -NX_P10646 35015 304 8.61 2 Secreted;Microsome membrane;Cytoskeleton;Cytosol NA 0 PE1 -NX_P10696 57377 532 5.9 2 Cell membrane NA 0 PE1 -NX_P10720 11553 104 9.3 4 Secreted NA 0 PE1 -NX_P10721 109865 976 6.54 4 Cell membrane;Cell membrane;Cytoplasm Testicular germ cell tumor;Gastrointestinal stromal tumor;Leukemia, acute myelogenous;Piebald trait 1 PE1 -NX_P10745 135363 1247 4.98 10 Interphotoreceptor matrix Retinitis pigmentosa 66 0 PE1 -NX_P10746 28628 265 5.35 10 Nucleoplasm;Cytosol Congenital erythropoietic porphyria 0 PE1 -NX_P10747 25066 220 9.46 2 Cell surface;Membrane NA 1 PE1 -NX_P10767 22905 208 10 12 Extracellular space NA 0 PE1 -NX_P10768 31463 282 6.54 13 Golgi apparatus;Cytoplasm;Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_P10809 61055 573 5.7 2 Mitochondrion matrix;Mitochondrion Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, autosomal dominant 0 PE1 -NX_P10826 50489 455 8.04 3 Nucleoplasm;Cytoplasm;Nucleus Microphthalmia, syndromic, 12 0 PE1 -NX_P10827 54816 490 6.42 17 Cytosol;Nucleus Hypothyroidism, congenital, non-goitrous, 6 0 PE1 -NX_P10828 52788 461 6.68 3 Nucleus;Nucleus Selective pituitary thyroid hormone resistance;Generalized thyroid hormone resistance;Generalized thyroid hormone resistance autosomal recessive 0 PE1 -NX_P10909 52495 449 5.89 8 Mitochondrion membrane;Secreted;Microsome;Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Chromaffin granule NA 0 PE1 -NX_P10911 107673 925 5.72 X Cytoplasm;Membrane NA 0 PE1 -NX_P10912 71500 638 4.76 5 Cytosol;Cell membrane;Cytosol;Cell membrane;Secreted Laron syndrome;Growth hormone insensitivity, partial 1 PE1 -NX_P10914 36502 325 5.22 5 Cytosol;Nucleus;Cytoplasm;Nucleoplasm Gastric cancer 0 PE1 -NX_P10915 40166 354 7.1 5 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_P10916 18789 166 4.92 12 Cytoskeleton;A band Cardiomyopathy, familial hypertrophic 10 0 PE1 -NX_P10966 23722 210 10.03 2 Cell membrane;Cell membrane;Secreted NA 1 PE1 -NX_P10997 9806 89 9.83 12 Secreted NA 0 PE1 -NX_P11021 72333 654 5.07 9 Cytosol;Cytoplasm;Melanosome;Endoplasmic reticulum lumen NA 0 PE1 -NX_P11047 177603 1609 5.01 1 Cell membrane;Endoplasmic reticulum;Basement membrane NA 0 PE1 -NX_P11049 31703 281 8.25 19 Membrane NA 4 PE1 -NX_P11055 223905 1940 5.62 17 Myofibril Arthrogryposis, distal, 8;Arthrogryposis, distal, 2B;Arthrogryposis, distal, 2A 0 PE1 -NX_P11086 30855 282 5.73 17 Cytoplasmic vesicle NA 0 PE1 -NX_P11117 48344 423 6.28 11 Lysosome lumen;Lysosome membrane NA 1 PE1 -NX_P11137 199526 1827 4.82 2 Cytosol;Nucleolus;Dendrite;Cytoskeleton NA 0 PE1 -NX_P11142 70898 646 5.37 11 Nucleolus;Cell membrane;Melanosome;Cytoplasm NA 0 PE1 -NX_P11150 55914 499 9.22 15 Secreted Hepatic lipase deficiency 0 PE1 -NX_P11161 50302 476 9.02 10 Nucleoplasm;Nucleus Charcot-Marie-Tooth disease 1D;Neuropathy, congenital hypomyelinating or amyelinating;Dejerine-Sottas syndrome 0 PE1 -NX_P11166 54084 492 8.93 1 Cell membrane;Cell membrane;Melanosome GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 2;Epilepsy, idiopathic generalized 12;Stomatin-deficient cryohydrocytosis with neurologic defects;Dystonia 9 12 PE1 -NX_P11168 57490 524 8.09 3 Nucleoplasm;Membrane Fanconi-Bickel syndrome 12 PE1 -NX_P11169 53924 496 6.84 12 Cell membrane;Cell membrane NA 12 PE1 -NX_P11171 97017 864 5.42 1 Cytosol;Cell junction;Cell membrane;Cytoskeleton;Cell cortex;Nucleus Elliptocytosis 1 0 PE1 -NX_P11172 52222 480 6.81 3 Cytosol Orotic aciduria 1 0 PE1 -NX_P11177 39233 359 6.2 3 Cytoplasm;Mitochondrion matrix;Mitochondrion;Nucleoplasm Pyruvate dehydrogenase E1-beta deficiency 0 PE1 -NX_P11182 53487 482 8.71 1 Mitochondrion matrix;Mitochondrion Maple syrup urine disease 2 0 PE1 -NX_P11215 127179 1152 6.88 16 Membrane Systemic lupus erythematosus 6 1 PE1 -NX_P11216 96696 843 6.4 20 Cytosol NA 0 PE1 -NX_P11217 97092 842 6.57 11 NA Glycogen storage disease 5 0 PE1 -NX_P11226 26144 248 5.39 10 Secreted NA 0 PE1 -NX_P11229 51421 460 9.45 11 Postsynaptic cell membrane;Nucleus;Cytosol;Cell membrane NA 7 PE1 -NX_P11230 56698 501 5.5 17 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, 2A, slow-channel 4 PE1 -NX_P11233 23567 206 6.66 7 Cell membrane;Midbody ring;Cleavage furrow;Cell membrane NA 0 PE1 -NX_P11234 23409 206 6.24 2 Midbody;Cell membrane NA 0 PE1 -NX_P11245 33542 290 5.6 8 Cytoplasm NA 0 PE1 -NX_P11274 142819 1271 6.62 22 Cytosol;Postsynaptic density;Nucleoplasm Leukemia, chronic myeloid 0 PE1 -NX_P11277 246468 2137 5.15 14 Cytosol;Golgi apparatus;Cytoskeleton;Cell cortex Spherocytosis 2;Elliptocytosis 3 0 PE1 -NX_P11279 44882 417 9 13 Cell membrane;Endosome membrane;Lysosome membrane;Late endosome NA 1 PE1 -NX_P11308 54608 486 7.01 21 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Ewing sarcoma 0 PE1 -NX_P11309 45412 404 6.51 6 Cytosol;Nucleolus;Cell membrane;Cytoplasm;Nucleus NA 0 PE1 -NX_P11310 46588 421 8.61 1 Mitochondrion matrix;Mitochondrion Acyl-CoA dehydrogenase medium-chain deficiency 0 PE1 -NX_P11362 91868 822 5.82 8 Cytosol;Nucleus;Cell membrane;Cytoplasmic vesicle;Nucleolus Hartsfield syndrome;Trigonocephaly 1;Pfeiffer syndrome;Jackson-Weiss syndrome;Hypogonadotropic hypogonadism 2 with or without anosmia;Encephalocraniocutaneous lipomatosis;Osteoglophonic dysplasia 1 PE1 -NX_P11387 90726 765 9.33 20 Nucleus;Nucleolus;Nucleolus;Nucleolus;Nucleoplasm;Nucleus NA 0 PE1 -NX_P11388 174385 1531 8.82 17 Nucleus;Nucleoplasm;Nucleolus;Cytoplasm NA 0 PE1 -NX_P11413 59257 515 6.39 X Cytoplasm;Cytosol;Microtubule organizing center;Cytoplasmic vesicle Anemia, non-spherocytic hemolytic, due to G6PD deficiency 0 PE1 -NX_P11441 17777 157 8.71 X Cytosol;Nucleus NA 0 PE1 -NX_P11464 47223 419 8.32 19 Secreted NA 0 PE1 -NX_P11465 37216 335 7.66 19 Secreted NA 0 PE1 -NX_P11473 48289 427 6.08 12 Nucleoplasm;Nucleus;Cytoplasm Rickets vitamin D-dependent 2A 0 PE1 -NX_P11474 45510 423 6.01 11 Cytoskeleton;Nucleus;Nucleolus;Nucleus;Cytoskeleton NA 0 PE1 -NX_P11487 26887 239 10.88 11 Secreted Deafness with labyrinthine aplasia, microtia and microdontia 0 PE1 -NX_P11488 40041 350 5.4 3 NA Night blindness, congenital stationary, 1G;Night blindness, congenital stationary, autosomal dominant 3 0 PE1 -NX_P11498 129634 1178 6.37 11 Mitochondrion;Mitochondrion matrix Pyruvate carboxylase deficiency 0 PE1 -NX_P11509 56501 494 9.25 19 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P11511 57883 503 7.2 15 Endoplasmic reticulum;Cytoplasmic vesicle;Membrane Aromatase excess syndrome;Aromatase deficiency 0 PE1 -NX_P11532 426750 3685 5.64 X Sarcolemma;Postsynaptic cell membrane;Cytoskeleton Duchenne muscular dystrophy;Cardiomyopathy, dilated, X-linked 3B;Becker muscular dystrophy 0 PE1 -NX_P11586 101559 935 6.89 14 Cytosol;Cytoplasm Colorectal cancer;Neural tube defects, folate-sensitive 0 PE1 -NX_P11597 54756 493 5.7 16 Extracellular space Hyperalphalipoproteinemia 1 0 PE1 -NX_P11678 81040 715 10.31 17 Cytoplasmic granule Eosinophil peroxidase deficiency 0 PE1 -NX_P11684 9994 91 4.99 11 Secreted NA 0 PE1 -NX_P11686 21053 197 6.19 8 Surface film Pulmonary surfactant metabolism dysfunction 2;Respiratory distress syndrome in premature infants 0 PE1 -NX_P11712 55628 490 8.13 10 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P11717 274375 2491 5.64 6 Lysosome membrane;Cytoplasmic vesicle;Golgi apparatus NA 1 PE1 -NX_P11766 39724 374 7.45 4 Cytoplasm;Cytoplasm NA 0 PE1 -NX_P11801 48035 424 9.82 16 Cell membrane;Cytoplasm;Nucleoplasm;Golgi apparatus;Centrosome;Nucleus speckle;Endoplasmic reticulum membrane NA 0 PE1 -NX_P11802 33730 303 6.52 12 Nucleus membrane;Nucleus;Cytosol;Cytoplasm;Nucleolus;Nucleus;Membrane Melanoma, cutaneous malignant 3 0 PE1 -NX_P11831 51593 508 7.83 6 Nucleus;Nucleus NA 0 PE1 -NX_P11836 33077 297 5.04 11 Cell membrane;Cell membrane Immunodeficiency, common variable, 5 4 PE1 -NX_P11844 20877 174 8.05 2 NA NA 0 PE1 -NX_P11908 34769 318 6.15 X NA NA 0 PE1 -NX_P11912 25038 226 4.87 19 Cell membrane Agammaglobulinemia 3, autosomal recessive 1 PE1 -NX_P11926 51148 461 5.1 2 Cell membrane;Cytosol NA 0 PE1 -NX_P11940 70671 636 9.52 8 Cytoplasm;Nucleus NA 0 PE1 -NX_P12004 28769 261 4.57 20 Nucleus;Nucleoplasm;Nucleus Ataxia-telangiectasia-like disorder 2 0 PE1 -NX_P12018 16605 145 6.3 22 NA NA 0 PE1 -NX_P12034 29551 268 10.54 4 Cytosol;Nucleus;Secreted;Nucleolus Trichomegaly 0 PE1 -NX_P12035 64417 628 6.12 12 NA Corneal dystrophy, Meesmann 0 PE1 -NX_P12036 112479 1026 5.99 22 Nucleus;Cytoplasm;Centrosome;Nucleus Amyotrophic lateral sclerosis;Charcot-Marie-Tooth disease 2CC 0 PE1 -NX_P12074 12155 109 9.3 12 Mitochondrion;Mitochondrion inner membrane Charcot-Marie-Tooth disease, recessive, intermediate type, D 0 PE1 -NX_P12081 57411 509 5.72 5 Cytosol;Cytoplasm Charcot-Marie-Tooth disease 2W;Usher syndrome 3B 0 PE1 -NX_P12104 15207 132 6.62 4 Cytoplasm;Cell membrane;Cytosol;Cytoskeleton NA 0 PE1 -NX_P12107 181065 1806 5.06 1 Endoplasmic reticulum;Extracellular matrix Marshall syndrome;Stickler syndrome 2;Fibrochondrogenesis 1 0 PE1 -NX_P12109 108529 1028 5.26 21 Cytosol;Extracellular matrix Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1 0 PE1 -NX_P12110 108579 1019 5.85 21 Cytosol;Extracellular matrix;Membrane;Cell membrane Myosclerosis autosomal recessive;Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1 0 PE1 -NX_P12111 343669 3177 6.26 2 Extracellular matrix Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Dystonia 27 0 PE1 -NX_P12235 33064 298 9.78 4 Mitochondrion inner membrane Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2;Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type 6 PE1 -NX_P12236 32866 298 9.76 X Mitochondrion inner membrane NA 6 PE1 -NX_P12259 251703 2224 5.68 1 Golgi apparatus;Secreted Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;Ischemic stroke;Pregnancy loss, recurrent, 1;Factor V deficiency 0 PE1 -NX_P12268 55805 514 6.44 3 Cytosol;Nucleus;Cytoplasm;Cytoplasm NA 0 PE1 -NX_P12270 267293 2363 4.97 1 Nucleus membrane;Nucleus envelope;Kinetochore;Nucleus membrane;Nucleus;Nucleus membrane;Nuclear pore complex;Cytoplasm;Spindle NA 0 PE1 -NX_P12271 36474 317 4.98 15 Cytosol;Centrosome;Cytoplasm;Nucleoplasm Retinitis punctata albescens;Rod-cone dystrophy Newfoundland;Bothnia retinal dystrophy 0 PE1 -NX_P12272 20194 177 10.19 12 Cytosol;Secreted;Nucleoplasm;Nucleus;Cytoplasm;Golgi apparatus Brachydactyly E2 0 PE1 -NX_P12273 16572 146 8.26 7 Secreted NA 0 PE1 -NX_P12277 42644 381 5.34 14 Cytoplasm;Cytosol NA 0 PE1 -NX_P12314 42632 374 8.09 1 Cell membrane NA 1 PE1 -NX_P12318 35001 317 6.19 1 Cell membrane NA 1 PE1 -NX_P12319 29596 257 6.23 1 Cell membrane NA 1 PE1 -NX_P12429 36375 323 5.63 4 Cytosol NA 0 PE1 -NX_P12524 40327 364 5.47 1 Nucleus;Nucleus NA 0 PE1 -NX_P12525 40868 358 5.14 X Nucleus NA 0 PE5 -NX_P12532 47037 417 8.6 15 Mitochondrion inner membrane NA 0 PE1 -NX_P12544 28999 262 9.14 5 Cytoplasmic granule;Secreted NA 0 PE1 -NX_P12643 44702 396 9.15 20 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P12644 46555 408 8.97 14 Extracellular matrix Non-syndromic orofacial cleft 11;Microphthalmia, syndromic, 6 0 PE1 -NX_P12645 53372 472 9.64 4 Secreted NA 0 PE1 -NX_P12694 50471 445 8.42 19 Mitochondrion matrix Maple syrup urine disease 1A 0 PE1 -NX_P12724 18385 160 10.12 14 Secreted NA 0 PE1 -NX_P12755 80005 728 7.73 1 Nucleoplasm;Nucleus;Nucleus Shprintzen-Goldberg craniosynostosis syndrome 0 PE1 -NX_P12757 76976 684 6.72 3 Cytosol;Nucleoplasm NA 0 PE1 -NX_P12814 103058 892 5.25 14 Cytoplasm;Focal adhesion;Z line;Cytoskeleton;Ruffle;Cell junction;Cell membrane;Cell membrane Bleeding disorder, platelet-type 15 0 PE1 -NX_P12821 149715 1306 5.95 17 Cytoplasmic vesicle;Cytoplasm;Secreted;Cell membrane Intracerebral hemorrhage;Renal tubular dysgenesis;Ischemic stroke;Microvascular complications of diabetes 3 1 PE1 -NX_P12829 21565 197 4.98 17 Cell membrane Atrial fibrillation, familial, 18 0 PE1 -NX_P12830 97456 882 4.58 16 trans-Golgi network;Cell junction;Cell membrane;Endosome;Cell junction;Golgi apparatus;Cell membrane Breast cancer, lobular;Endometrial cancer;Hereditary diffuse gastric cancer;Ovarian cancer 1 PE1 -NX_P12838 10504 97 8.3 8 Secreted NA 0 PE1 -NX_P12872 12920 115 6.14 6 Secreted NA 0 PE1 -NX_P12882 223145 1939 5.59 17 Myofibril NA 0 PE1 -NX_P12883 223097 1935 5.63 14 Myofibril;Sarcomere Myopathy, myosin storage, autosomal dominant;Cardiomyopathy, dilated 1S;Myopathy, myosin storage, autosomal recessive;Scapuloperoneal myopathy MYH7-related;Cardiomyopathy, familial hypertrophic 1;Myopathy, distal, 1 0 PE1 -NX_P12931 59835 536 7.1 20 Cell membrane;Mitochondrion inner membrane;Cytosol;Perinuclear region;Cytoskeleton;Nucleus;Cell membrane Thrombocytopenia 6 0 PE1 -NX_P12955 54548 493 5.64 19 Nucleoplasm Prolidase deficiency 0 PE1 -NX_P12956 69843 609 6.23 22 Nucleus;Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_P12980 29938 280 10.69 19 Golgi apparatus;Nucleus NA 0 PE1 -NX_P13010 82705 732 5.55 2 Nucleus;Nucleus;Nucleoplasm;Nucleolus;Chromosome NA 0 PE1 -NX_P13051 34645 313 9.37 12 Mitochondrion;Cytosol;Nucleus Immunodeficiency with hyper-IgM 5 0 PE1 -NX_P13056 67315 603 5.89 12 PML body;Cytosol;Nucleus;Cell junction;Nucleus NA 0 PE1 -NX_P13073 19577 169 9.52 16 Mitochondrion inner membrane;Mitochondrion NA 0 PE1 -NX_P13164 13964 125 7.78 11 Cytosol;Cell membrane NA 1 PE1 -NX_P13196 70581 640 8.74 3 Mitochondrion matrix;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_P13224 21718 206 9.67 22 Membrane Bernard-Soulier syndrome 1 PE1 -NX_P13232 20187 177 8.87 8 Secreted NA 0 PE1 -NX_P13236 10212 92 5.13 17 Secreted NA 0 PE1 -NX_P13284 27964 250 4.79 19 Cytoplasmic vesicle;Cytosol;Secreted;Lysosome NA 0 PE1 -NX_P13349 28296 255 5.9 12 Nucleoplasm;Nucleus NA 0 PE2 -NX_P13378 31911 290 8.7 2 Nucleus NA 0 PE1 -NX_P13385 21169 188 8.54 3 Secreted;Cell membrane NA 0 PE1 -NX_P13473 44961 410 5.35 X Endosome membrane;Autophagosome membrane;Lysosome membrane;Cell membrane Danon disease 1 PE1 -NX_P13489 49973 461 4.71 11 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_P13497 111249 986 6.48 8 Extracellular matrix;trans-Golgi network Osteogenesis imperfecta 13 0 PE1 -NX_P13498 21013 195 9.58 16 Cell membrane Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive 0 PE1 -NX_P13500 11025 99 9.4 17 Golgi apparatus;Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P13501 9990 91 9.27 17 Secreted NA 0 PE1 -NX_P13521 70941 617 4.67 2 Secreted NA 0 PE1 -NX_P13533 223735 1939 5.58 14 Myofibril Cardiomyopathy, dilated 1EE;Cardiomyopathy, familial hypertrophic 14;Sick sinus syndrome 3;Atrial septal defect 3 0 PE1 -NX_P13535 222763 1937 5.59 17 Myofibril Carney complex variant;Arthrogryposis, distal, 7 0 PE1 -NX_P13569 168142 1480 8.91 7 Early endosome membrane;Cell membrane;Recycling endosome membrane;Endoplasmic reticulum membrane;Apical cell membrane Congenital bilateral absence of the vas deferens;Cystic fibrosis 11 PE1 -NX_P13584 58991 511 8.47 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P13591 94574 858 4.79 11 Cell membrane;Cytosol;Cell membrane;Secreted;Cell membrane NA 1 PE1 -NX_P13598 30654 275 7.09 17 Cytosol;Membrane NA 1 PE1 -NX_P13611 372820 3396 4.43 5 Cytoplasmic vesicle;Extracellular matrix Wagner vitreoretinopathy 0 PE1 -NX_P13612 114900 1032 6.05 2 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 1 PE1 -NX_P13631 50342 454 7.44 12 Nucleus;Nucleoplasm NA 0 PE1 -NX_P13637 111749 1013 5.22 19 Cell membrane Dystonia 12;Alternating hemiplegia of childhood 2;Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 10 PE1 -NX_P13639 95338 858 6.41 19 Cytoplasm;Cytosol;Cytoplasm;Cell membrane;Nucleus Spinocerebellar ataxia 26 0 PE1 -NX_P13640 6141 62 8.38 16 NA NA 0 PE1 -NX_P13645 58827 584 5.13 17 NA Erythroderma, ichthyosiform, congenital reticular;Ichthyosis annular epidermolytic;Epidermolytic hyperkeratosis 0 PE1 -NX_P13646 49588 458 4.91 17 Cytoskeleton White sponge nevus 2 0 PE1 -NX_P13647 62378 590 7.58 12 NA Dowling-Degos disease 1;Epidermolysis bullosa simplex, with migratory circinate erythema;Epidermolysis bullosa simplex, with mottled pigmentation;Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, Weber-Cockayne type;Epidermolysis bullosa simplex, Dowling-Meara type 0 PE1 -NX_P13667 72932 645 4.96 7 Endoplasmic reticulum lumen;Melanosome;Endoplasmic reticulum NA 0 PE1 -NX_P13671 104786 934 6.39 5 Secreted Complement component 6 deficiency 0 PE1 -NX_P13674 61049 534 5.7 10 Endoplasmic reticulum lumen;Mitochondrion;Cytoplasmic vesicle;Endoplasmic reticulum NA 0 PE1 -NX_P13682 59089 527 8.44 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_P13686 36599 325 8.82 19 Cytosol;Lysosome Spondyloenchondrodysplasia with immune dysregulation 0 PE1 -NX_P13688 57560 526 5.65 19 Cell membrane;Lateral cell membrane;Apical cell membrane;Microvillus membrane;Secretory vesicle membrane;Apical cell membrane;Basal cell membrane;Cell junction;Adherens junction;Secreted NA 1 PE1 -NX_P13693 19595 172 4.84 13 Cytoplasm NA 0 PE1 -NX_P13716 36295 330 6.32 9 NA Acute hepatic porphyria 0 PE1 -NX_P13725 28484 252 10.71 22 Secreted NA 0 PE1 -NX_P13726 33068 295 6.64 1 Secreted;Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_P13727 25206 222 6.32 11 Secreted;Secretory vesicle NA 0 PE1 -NX_P13746 40937 365 5.77 6 Membrane NA 1 PE1 -NX_P13747 40157 358 5.6 6 Membrane NA 1 PE1 -NX_P13760 30112 266 6.71 6 Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane;Late endosome membrane NA 1 PE1 -NX_P13761 29822 266 7.04 6 Late endosome membrane;Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane NA 1 PE1 -NX_P13762 29941 266 6.95 6 Lysosome membrane;Late endosome membrane;Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane NA 1 PE1 -NX_P13765 30822 273 6.31 6 Endosome membrane;Lysosome membrane NA 1 PE1 -NX_P13796 70288 627 5.29 13 Cytoskeleton;Cell junction;Cell projection;Ruffle membrane;Cell membrane;Cytoskeleton;Cytosol NA 0 PE1 -NX_P13797 70811 630 5.41 X Cytoplasm;Cytosol;Cytoplasm;Cell membrane Osteoporosis 0 PE1 -NX_P13798 81225 732 5.29 3 Cytosol;Cytoplasm NA 0 PE1 -NX_P13804 35080 333 8.62 15 Mitochondrion matrix;Mitochondrion Glutaric aciduria 2A 0 PE1 -NX_P13805 32948 278 5.86 19 Golgi apparatus;Cytosol;Nucleus Nemaline myopathy 5 0 PE1 -NX_P13807 83786 737 5.8 19 Cytosol;Cytoskeleton Muscle glycogen storage disease 0 0 PE1 -NX_P13861 45518 404 4.96 3 Cytoplasm;Cytoplasm;Cell membrane;Microtubule organizing center;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_P13866 73498 664 7.82 22 Nucleoplasm;Membrane;Cytoplasmic vesicle Congenital glucose/galactose malabsorption 13 PE1 -NX_P13928 36881 327 5.56 10 NA NA 0 PE1 -NX_P13929 46987 434 7.58 17 Cytoplasm Glycogen storage disease 13 0 PE1 -NX_P13942 171791 1736 5.89 6 Extracellular matrix Deafness, autosomal recessive, 53;Deafness, autosomal dominant, 13;Weissenbacher-Zweymueller syndrome;Otospondylomegaepiphyseal dysplasia;Fibrochondrogenesis 2;Stickler syndrome 3 0 PE1 -NX_P13945 43519 408 9.39 8 Cell membrane NA 7 PE1 -NX_P13984 28380 249 9.24 13 Nucleolus;Nucleus;Nucleus;Cytoskeleton;Nucleus NA 0 PE1 -NX_P13985 24343 223 12.23 1 NA NA 0 PE5 -NX_P13987 14177 128 6.02 11 Cell membrane;Golgi apparatus;Cytoplasmic vesicle;Secreted Hemolytic anemia, CD59-mediated, with or without polyneuropathy 0 PE1 -NX_P13994 44802 396 8.47 19 Cytoplasmic vesicle NA 0 PE1 -NX_P13995 37895 350 8.86 2 Mitochondrion NA 0 PE1 -NX_P14060 42252 373 8.86 1 Mitochondrion membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_P14061 34950 328 5.46 17 Cytosol;Cytoplasm NA 0 PE1 -NX_P14091 43312 401 4.69 1 Endosome NA 0 PE1 -NX_P14136 49880 432 5.42 17 Cytoskeleton;Cytoplasm Alexander disease 0 PE1 -NX_P14138 25454 238 6.24 20 Secreted Waardenburg syndrome 4B;Congenital central hypoventilation syndrome;Hirschsprung disease 4 0 PE1 -NX_P14151 42187 372 6.2 1 Cytosol;Membrane NA 1 PE1 -NX_P14174 12476 115 7.73 22 Cytoplasm;Cytosol;Nucleoplasm;Secreted Rheumatoid arthritis systemic juvenile 0 PE1 -NX_P14207 29280 255 7.5 11 Cell membrane;Secreted NA 0 PE1 -NX_P14209 18848 185 4.58 X Membrane;Golgi apparatus NA 1 PE1 -NX_P14210 83134 728 8.22 7 Cytosol;Centrosome Deafness, autosomal recessive, 39 0 PE1 -NX_P14222 61377 555 8.04 10 Cytosol;Cytoplasmic granule lumen;Secreted;Cell membrane;Endosome lumen Familial hemophagocytic lymphohistiocytosis 2 0 PE1 -NX_P14314 59425 528 4.33 19 Endoplasmic reticulum;Endoplasmic reticulum Polycystic liver disease 1 0 PE1 -NX_P14316 39354 349 7.07 4 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P14317 54014 486 4.74 3 Membrane;Cell membrane;Cytoplasm;Cytosol;Mitochondrion NA 0 PE1 -NX_P14324 48275 419 5.83 1 Nucleoplasm;Cytoplasm;Cytosol Porokeratosis 9, multiple types 0 PE1 -NX_P14373 58490 513 5.83 6 Nucleolus;Nucleus;Nucleus;Cytoplasm;PML body;Early endosome NA 0 PE1 -NX_P14384 50514 443 6.94 12 Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_P14406 9396 83 9.75 6 Mitochondrion inner membrane;Cell membrane;Mitochondrion NA 0 PE1 -NX_P14410 209453 1827 5.38 3 Apical cell membrane Congenital sucrase-isomaltase deficiency 1 PE1 -NX_P14415 33367 290 8.57 17 Cell membrane NA 1 PE1 -NX_P14416 50619 443 9.55 11 Cell membrane NA 7 PE1 -NX_P14543 136377 1247 5.12 1 Basement membrane NA 0 PE1 -NX_P14550 36573 325 6.32 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_P14555 16083 144 9.44 1 Endoplasmic reticulum;Nucleolus;Nucleus;Cell membrane;Secreted NA 0 PE1 -NX_P14598 44652 390 9.2 7 Cytosol;Membrane Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive 0 PE1 -NX_P14616 143720 1297 6.03 1 Membrane NA 1 PE1 -NX_P14618 57937 531 7.96 15 Cytosol;Cytoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P14621 11140 99 9.52 2 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P14625 92469 803 4.76 12 Endoplasmic reticulum;Endoplasmic reticulum lumen;Melanosome NA 0 PE1 -NX_P14635 48337 433 7.09 5 Cytosol;Cytoplasm;Nucleus;Centrosome NA 0 PE1 -NX_P14649 22764 208 5.56 12 Cytoplasmic vesicle NA 0 PE1 -NX_P14651 44340 431 9.27 17 Nucleus;Nucleus NA 0 PE1 -NX_P14652 37914 356 5.03 17 Nucleus;Nucleus NA 0 PE1 -NX_P14653 32193 301 6.45 17 Nucleus Facial paresis, hereditary congenital, 3 0 PE1 -NX_P14672 54787 509 6.48 17 Cell membrane;Endomembrane system;Perinuclear region Diabetes mellitus, non-insulin-dependent 12 PE1 -NX_P14678 24610 240 11.2 20 Nucleus;Nucleus;Cytosol Cerebrocostomandibular syndrome 0 PE1 -NX_P14679 60393 529 5.71 11 Cytoplasmic vesicle;Melanosome membrane;Melanosome Albinism, oculocutaneous, 1A;Albinism, oculocutaneous, 1B 1 PE1 -NX_P14735 117968 1019 6.16 10 Secreted;Cytoplasm;Cell membrane NA 0 PE1 -NX_P14770 19046 177 5.89 3 Membrane Bernard-Soulier syndrome 1 PE1 -NX_P14778 65402 569 8 2 Membrane;Cell membrane;Cytoplasmic vesicle;Secreted NA 1 PE1 -NX_P14780 78458 707 5.69 20 Cytosol;Extracellular matrix Intervertebral disc disease;Metaphyseal anadysplasia 2 0 PE1 -NX_P14784 61117 551 4.93 22 Membrane NA 1 PE1 -NX_P14854 10192 86 6.54 19 Mitochondrion;Mitochondrion intermembrane space Mitochondrial complex IV deficiency 0 PE1 -NX_P14859 76472 743 6.34 1 Endoplasmic reticulum;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P14866 64133 589 8.46 19 Nucleus;Nucleoplasm;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_P14867 51802 456 9.27 5 Postsynaptic cell membrane;Cell membrane;Cytoplasmic vesicle membrane Juvenile myoclonic epilepsy 5;Epileptic encephalopathy, early infantile, 19;Epilepsy, idiopathic generalized 13;Epilepsy, childhood absence 4 4 PE1 -NX_P14868 57136 501 6.11 2 Cytosol;Cytosol Hypomyelination with brainstem and spinal cord involvement and leg spasticity 0 PE1 -NX_P14902 45326 403 6.87 8 Cytosol NA 0 PE1 -NX_P14920 39474 347 6.36 12 Peroxisome Schizophrenia 0 PE1 -NX_P14921 50408 441 5.04 11 Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_P14923 81745 745 5.75 17 Adherens junction;Cell junction;Cytoplasmic vesicle;Cell membrane;Desmosome;Cytoskeleton;Membrane Arrhythmogenic right ventricular dysplasia, familial, 12;Naxos disease 0 PE1 -NX_P14927 13530 111 8.73 8 Mitochondrion;Cytoplasm;Nucleus;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 3 0 PE1 -NX_P15018 22008 202 9.44 22 Cytosol;Secreted NA 0 PE1 -NX_P15036 53001 469 4.93 21 Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 -NX_P15056 84437 766 7.29 7 Cytoplasm;Cytoplasmic vesicle;Cytosol;Cell membrane;Nucleus Lung cancer;Cardiofaciocutaneous syndrome 1;Familial non-Hodgkin lymphoma;Noonan syndrome 7;LEOPARD syndrome 3;Colorectal cancer 0 PE1 -NX_P15085 47140 419 5.45 7 Secreted NA 0 PE1 -NX_P15086 47368 417 6.16 3 Secreted NA 0 PE1 -NX_P15088 48670 417 9.08 3 Secretory vesicle NA 0 PE1 -NX_P15090 14719 132 6.59 8 Cytoplasm;Nucleus NA 0 PE1 -NX_P15104 42064 373 6.43 1 Mitochondrion;Cytosol;Cytoplasm;Mitochondrion Congenital systemic glutamine deficiency 0 PE1 -NX_P15121 35853 316 6.51 7 Cytoplasm;Cytosol;Nucleus NA 0 PE1 -NX_P15144 109540 967 5.31 15 Cell membrane;Cell membrane;Nucleus NA 1 PE1 -NX_P15151 45303 417 6.07 19 Cell membrane;Cytoplasmic vesicle;Cell membrane;Nucleoplasm;Secreted NA 1 PE1 -NX_P15153 21429 192 7.52 22 Cytoplasm Neutrophil immunodeficiency syndrome 0 PE1 -NX_P15169 52286 458 6.86 10 Extracellular space;Nucleolus;Nucleus Carboxypeptidase N deficiency 0 PE1 -NX_P15170 55756 499 5.45 16 Cytoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_P15172 34501 320 5.56 11 Nucleus;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_P15173 25037 224 5.45 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_P15248 15909 144 8.93 5 Secreted NA 0 PE2 -NX_P15259 28766 253 8.99 7 Cytosol;Nucleus;Nucleolus Glycogen storage disease 10 0 PE1 -NX_P15260 54405 489 4.83 6 Cell membrane;Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane Immunodeficiency 27A;Immunodeficiency 27B 1 PE1 -NX_P15289 53588 507 5.65 22 Lysosome;Cytosol;Golgi apparatus Leukodystrophy metachromatic;Multiple sulfatase deficiency 0 PE1 -NX_P15291 43920 398 8.88 9 Secreted;Golgi stack membrane;Cell membrane;Cell surface;Golgi apparatus;Filopodium Congenital disorder of glycosylation 2D 1 PE1 -NX_P15309 44566 386 5.83 3 Lysosome membrane;Cell membrane;Secreted NA 0 PE1 -NX_P15311 69413 586 5.94 6 Cytoskeleton;Apical cell membrane;Cell projection;Microvillus membrane;Ruffle membrane;Cell cortex;Cell membrane NA 0 PE1 -NX_P15313 56833 513 5.44 2 Nucleus membrane;Endomembrane system;Nucleus Renal tubular acidosis, distal, with progressive nerve deafness 0 PE1 -NX_P15328 29819 257 8.3 11 Apical cell membrane;Nucleus membrane;Cell membrane;Secreted;Cytoplasmic vesicle;Clathrin-coated vesicle;Endosome Neurodegeneration due to cerebral folate transport deficiency 0 PE1 -NX_P15336 54537 505 7.75 2 Nucleoplasm;Cytoplasm;Mitochondrion outer membrane;Nucleus NA 0 PE1 -NX_P15374 26183 230 4.84 13 Cytoplasm;Cytosol;Nucleus NA 0 PE1 -NX_P15382 14675 129 6.83 21 Membrane raft;Cell membrane;Apical cell membrane Jervell and Lange-Nielsen syndrome 2;Long QT syndrome 5 1 PE1 -NX_P15391 61128 556 4.87 16 Membrane Immunodeficiency, common variable, 3 1 PE1 -NX_P15407 29413 271 8.21 11 Cytoplasm;Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_P15408 35193 326 7.03 2 Nucleus;Nucleus NA 0 PE1 -NX_P15421 8463 78 9.51 4 Membrane NA 1 PE2 -NX_P15428 28977 266 5.56 4 Nucleoplasm;Cytosol;Cytoplasm Hypertrophic osteoarthropathy, primary, autosomal recessive, 1;Isolated congenital nail clubbing;Cranioosteoarthropathy 0 PE1 -NX_P15498 98314 845 6.2 19 Cytosol NA 0 PE1 -NX_P15502 68469 786 10.4 7 Mitochondrion;Extracellular matrix;Cell membrane Supravalvular aortic stenosis;Cutis laxa, autosomal dominant, 1 0 PE1 -NX_P15509 46207 400 7.91 X Secreted;Cell membrane Pulmonary surfactant metabolism dysfunction 4 1 PE1 -NX_P15514 27895 252 7.01 4 Mitochondrion;Membrane NA 1 PE1 -NX_P15515 6963 57 9.1 4 Secreted NA 0 PE1 -NX_P15516 6149 51 10.09 4 Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_P15529 43747 392 6.34 1 Cell membrane;Acrosome inner membrane Hemolytic uremic syndrome atypical 2 1 PE1 -NX_P15531 17149 152 5.83 17 Cytoplasm;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_P15538 57573 503 9.4 8 Mitochondrion membrane Adrenal hyperplasia 4;Hyperaldosteronism, familial, 1 0 PE1 -NX_P15559 30868 274 8.91 16 Cytoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_P15586 62082 552 8.6 12 Lysosome Mucopolysaccharidosis 3D 0 PE1 -NX_P15621 76524 663 9 19 Cytosol;Nucleoplasm;Nucleus;Cytoskeleton NA 0 PE1 -NX_P15622 63468 560 8.65 8 Nucleus speckle;Nucleus NA 0 PE1 -NX_P15692 27042 232 9.21 6 Secreted Microvascular complications of diabetes 1 0 PE1 -NX_P15735 46442 406 5.95 16 Cytosol Glycogen storage disease 9C 0 PE1 -NX_P15812 43626 388 8.87 1 Early endosome;Late endosome;Lysosome lumen;Golgi apparatus membrane NA 1 PE1 -NX_P15813 37717 335 8.43 1 Endoplasmic reticulum;Cell membrane;Basolateral cell membrane;Endosome membrane;Lysosome membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_P15814 22963 213 10.1 22 Endoplasmic reticulum;Secreted Agammaglobulinemia 2, autosomal recessive 0 PE1 -NX_P15822 296865 2718 7.98 6 Nucleus;Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_P15848 59687 533 8.43 5 Lysosome;Cell surface Mucopolysaccharidosis 6;Multiple sulfatase deficiency 0 PE1 -NX_P15863 55499 534 9.9 20 Nucleus Otofaciocervical syndrome 2 0 PE1 -NX_P15880 31324 293 10.25 16 Cytoplasm;Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P15882 53172 459 6.51 2 Cytosol Duane retraction syndrome 2 0 PE1 -NX_P15884 71308 667 6.51 18 Cytosol;Nucleus;Nucleoplasm Pitt-Hopkins syndrome;Corneal dystrophy, Fuchs endothelial, 3 0 PE1 -NX_P15907 46605 406 9.13 3 Secreted;Golgi stack membrane NA 1 PE1 -NX_P15918 119097 1043 8.94 11 Nucleus Omenn syndrome;Combined cellular and humoral immune defects with granulomas;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive;Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity 0 PE1 -NX_P15923 67600 654 6 19 Nucleus;Nucleoplasm Agammaglobulinemia 8, autosomal dominant 0 PE1 -NX_P15924 331774 2871 6.44 6 Cell junction;Desmosome;Cytoskeleton;Cell membrane Arrhythmogenic right ventricular dysplasia, familial, 8;Keratoderma, palmoplantar, striate 2;Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis;Cardiomyopathy, dilated, with woolly hair and keratoderma;Skin fragility-woolly hair syndrome;Epidermolysis bullosa, lethal acantholytic 0 PE1 -NX_P15927 29247 270 5.75 1 Nucleus;Nucleus;PML body;Nucleus;Nucleoplasm NA 0 PE1 -NX_P15941 122102 1255 6.96 1 Cell membrane;Cytoplasmic vesicle;Nucleus;Cytoplasm;Cell membrane;Apical cell membrane;Secreted Medullary cystic kidney disease 1 1 PE1 -NX_P15954 7246 63 10.29 5 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_P15976 42751 413 9.03 X Nucleus Anemia without thrombocytopenia, X-linked;X-linked dyserythropoietic anemia and thrombocytopenia;Thrombocytopenia with beta-thalassemia, X-linked 0 PE1 -NX_P16035 24399 220 7.46 17 Cytoplasm;Secreted NA 0 PE1 -NX_P16050 74804 662 6.14 17 Lipid droplet;Cell membrane;Cytosol NA 0 PE1 -NX_P16066 118919 1061 6.19 1 Membrane;Cell membrane;Nucleolus;Nucleus NA 1 PE1 -NX_P16070 81538 742 5.13 11 Cell membrane;Golgi apparatus;Cell membrane;Cell membrane;Golgi apparatus NA 1 PE1 -NX_P16083 25919 231 5.87 6 Cytoplasm;Cytosol;Nucleoplasm NA 0 PE1 -NX_P16104 15145 143 10.74 11 Nucleoplasm;Nucleus speckle;Nucleus;Chromosome NA 0 PE1 -NX_P16109 90834 830 6.17 1 Membrane Ischemic stroke 1 PE1 -NX_P16112 250193 2415 4.1 15 Extracellular matrix Spondyloepiphyseal dysplasia type Kimberley;Osteochondritis dissecans short stature and early-onset osteoarthritis;Spondyloepimetaphyseal dysplasia, aggrecan type 0 PE1 -NX_P16118 54681 471 6.14 X NA NA 0 PE1 -NX_P16144 202167 1822 5.74 17 Nucleus;Cell membrane;Cell membrane;Hemidesmosome;Cell membrane;Cell junction Epidermolysis bullosa letalis, with pyloric atresia;Generalized atrophic benign epidermolysis bullosa 1 PE1 -NX_P16150 40322 400 5.01 16 Membrane;Golgi apparatus;Cell membrane;Cell junction NA 1 PE1 -NX_P16152 30375 277 8.55 21 Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_P16157 206265 1881 5.65 8 Sarcoplasmic reticulum;M line;Membrane;Cytoskeleton Spherocytosis 1 0 PE1 -NX_P16188 40905 365 5.73 6 Membrane NA 1 PE1 -NX_P16189 41004 365 6.02 6 Membrane NA 1 PE1 -NX_P16190 40892 365 6.22 6 Membrane NA 1 PE1 -NX_P16219 44297 412 8.13 12 Mitochondrion;Mitochondrion matrix;Nucleoplasm Acyl-CoA dehydrogenase short-chain deficiency 0 PE1 -NX_P16220 36688 341 5.46 2 Nucleus;Nucleoplasm Angiomatoid fibrous histiocytoma 0 PE1 -NX_P16233 51157 465 6.27 10 Secreted Pancreatic lipase deficiency 0 PE1 -NX_P16234 122670 1089 5.05 4 Cell junction;Cell membrane;Nucleus;Cell membrane Gastrointestinal stromal tumor 1 PE1 -NX_P16260 36224 332 9.87 10 Mitochondrion inner membrane;Mitochondrion NA 6 PE1 -NX_P16278 76075 677 6.1 3 Perinuclear region;Lysosome;Cytoplasmic vesicle;Golgi apparatus GM1-gangliosidosis 3;GM1-gangliosidosis 1;GM1-gangliosidosis 2;Mucopolysaccharidosis 4B 0 PE1 -NX_P16284 82536 738 6.55 17 Cell membrane;Cell junction;Membrane raft NA 1 PE1 -NX_P16298 59024 524 5.6 10 Mitochondrion NA 0 PE1 -NX_P16333 42864 377 6.06 3 Cytosol;Cell membrane;Cytoplasm;Endoplasmic reticulum;Nucleus NA 0 PE1 -NX_P16383 89385 781 5.71 2 Cytosol;Nucleoplasm;Nucleoplasm;Nucleolus NA 0 PE1 -NX_P16389 56717 499 4.78 1 Synapse;Cell membrane;Endoplasmic reticulum membrane;Lamellipodium membrane;Synaptosome;Membrane;Axon;Paranodal septate junction;Presynaptic cell membrane;Dendrite Epileptic encephalopathy, early infantile, 32 6 PE1 -NX_P16401 22580 226 10.91 6 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_P16402 22350 221 11.02 6 Nucleus;Chromosome NA 0 PE1 -NX_P16403 21365 213 10.94 6 Chromosome;Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_P16410 24656 223 6.7 2 Cell membrane Systemic lupus erythematosus;Celiac disease 3;Autoimmune lymphoproliferative syndrome 5;Diabetes mellitus, insulin-dependent, 12 1 PE1 -NX_P16415 70270 610 9.04 19 Nucleus NA 0 PE1 -NX_P16422 34932 314 7.42 2 Cell membrane;Lateral cell membrane;Tight junction Diarrhea 5, with tufting enteropathy, congenital;Hereditary non-polyposis colorectal cancer 8 1 PE1 -NX_P16435 76690 677 5.38 7 Endoplasmic reticulum;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cytosol;Nucleoplasm Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis;Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency 1 PE1 -NX_P16442 40934 354 9.14 9 Golgi stack membrane;Secreted NA 1 PE1 -NX_P16444 45674 411 5.75 16 Microvillus membrane;Apical cell membrane;Cell junction;Nucleus NA 0 PE1 -NX_P16452 77009 691 8.39 15 Cytoskeleton;Cell membrane Spherocytosis 5 0 PE1 -NX_P16455 21646 207 8.28 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_P16471 69506 622 5.23 5 Secreted;Membrane Multiple fibroadenomas of the breast;Hyperprolactinemia 1 PE1 -NX_P16473 86830 764 6.56 14 Cell membrane;Basolateral cell membrane Hypothyroidism, congenital, non-goitrous, 1;Familial gestational hyperthyroidism;Hyperthyroidism, non-autoimmune 7 PE1 -NX_P16499 99547 860 5.48 5 Cell membrane Retinitis pigmentosa 43 0 PE1 -NX_P16519 70565 638 6.04 20 Secretory vesicle;Cytoplasmic vesicle NA 0 PE1 -NX_P16520 37221 340 5.39 12 NA Night blindness, congenital stationary, 1H 0 PE1 -NX_P16562 27259 243 6.09 6 Secreted NA 0 PE1 -NX_P16581 66655 610 5.2 1 Cell membrane NA 1 PE1 -NX_P16591 94638 822 6.72 5 Cytosol;Cell cortex;Cell junction;Membrane;Nucleus;Cell membrane;Cytoplasm;Cytoskeleton;Cell projection NA 0 PE1 -NX_P16615 114757 1042 5.23 12 Nucleoplasm;Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane Acrokeratosis verruciformis;Darier disease 10 PE1 -NX_P16619 10161 93 4.77 17 Secreted NA 0 PE1 -NX_P16662 60695 529 8.54 4 Microsome membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_P16671 53053 472 8.19 7 Cell membrane;Membrane raft;Golgi apparatus;Apical cell membrane Coronary heart disease 7;Platelet glycoprotein IV deficiency 2 PE1 -NX_P16860 14726 134 10.34 1 Secreted NA 0 PE1 -NX_P16870 53151 476 5.03 4 Centrosome;Nucleoplasm;Secretory vesicle membrane;Secreted;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_P16871 51581 459 5.27 5 Secreted;Cell membrane;Cell membrane Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive;Multiple sclerosis 3 1 PE1 -NX_P16885 147870 1265 6.21 16 Cytoplasmic vesicle Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated;Familial cold autoinflammatory syndrome 3 0 PE1 -NX_P16930 46374 419 6.46 15 Cytosol Tyrosinemia 1 0 PE1 -NX_P16949 17303 149 5.76 1 Nucleus;Cytoskeleton;Cytosol;Cytoplasm NA 0 PE1 -NX_P16989 40090 372 9.77 12 Nucleus;Cytoplasm;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P17010 90522 805 5.71 X Nucleus NA 0 PE1 -NX_P17014 81202 697 8.12 7 Nucleus;Nucleoplasm;Centrosome NA 0 PE1 -NX_P17017 75353 642 9.36 19 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_P17019 57357 499 9.5 19 Nucleus NA 0 PE1 -NX_P17020 76472 682 8.31 8 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_P17021 77204 662 8.81 19 Nucleus NA 0 PE1 -NX_P17022 62288 549 5.65 17 Cell membrane;Nucleus;Golgi apparatus;Cytosol;Nucleoplasm NA 0 PE1 -NX_P17023 52449 458 7.98 16 Mitochondrion;Nucleus NA 0 PE1 -NX_P17024 61567 532 8.94 19 Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 -NX_P17025 73646 639 8.97 X Nucleus;Nucleus NA 0 PE1 -NX_P17026 25915 224 10.06 10 Nucleus;Nucleus NA 0 PE1 -NX_P17027 73059 643 8.49 16 Cytosol;Nucleus NA 0 PE1 -NX_P17028 42155 368 5.82 18 Nucleus;Nucleus NA 0 PE1 -NX_P17029 63630 563 6.6 7 Nucleus;Nucleus;Mitochondrion;Nucleus NA 0 PE1 -NX_P17030 53545 456 9.22 10 Nucleus;Nucleoplasm;Golgi apparatus NA 0 PE2 -NX_P17031 61282 533 9.12 12 Nucleus;Mitochondrion;Nucleus NA 0 PE1 -NX_P17032 65418 561 8.53 10 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P17035 83658 718 9.25 19 Nucleus NA 0 PE1 -NX_P17036 50916 446 7.31 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_P17038 94124 809 9.35 19 Nucleus;Nucleus NA 0 PE2 -NX_P17039 71417 623 9.27 19 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_P17040 117541 1043 6.01 1 Nucleus;Nucleoplasm NA 0 PE1 -NX_P17041 31029 273 9.52 10 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_P17050 46565 411 4.98 22 Lysosome Kanzaki disease;Schindler disease 0 PE1 -NX_P17066 71028 643 5.81 1 NA NA 0 PE1 -NX_P17081 22659 205 5.94 2 Cytoplasm;Cell membrane;Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_P17096 11676 107 10.31 6 Nucleus;Chromosome;Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_P17097 77887 686 8.67 8 Nucleus;Mitochondrion NA 0 PE1 -NX_P17098 64970 575 7.04 19 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_P17152 21541 192 6.98 17 Cell membrane;Mitochondrion;Mitochondrion inner membrane NA 2 PE1 -NX_P17174 46248 413 6.53 10 Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_P17181 63525 557 5.58 21 Cell membrane;Cytosol;Late endosome;Lysosome NA 1 PE1 -NX_P17213 53900 487 9.41 20 Secreted;Cytoplasmic granule membrane NA 0 PE1 -NX_P17252 76750 672 6.61 17 Cell membrane;Cytosol;Cytoplasm;Cell membrane;Mitochondrion membrane;Nucleus NA 0 PE1 -NX_P17275 35879 347 9.27 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_P17301 129295 1181 5.16 5 Cytosol;Nucleus;Membrane NA 1 PE1 -NX_P17302 43008 382 8.96 6 Cell membrane;Gap junction;Endoplasmic reticulum Atrioventricular septal defect 3;Craniometaphyseal dysplasia, autosomal recessive;Hypoplastic left heart syndrome 1;Syndactyly 3;Hallermann-Streiff syndrome;Palmoplantar keratoderma and congenital alopecia 1;Oculodentodigital dysplasia;Oculodentodigital dysplasia, autosomal recessive;Erythrokeratodermia variabilis et progressiva 3 4 PE1 -NX_P17342 59808 541 5.93 5 Cytosol;Membrane NA 1 PE1 -NX_P17405 69752 629 6.9 11 Secreted;Lysosome Niemann-Pick disease A;Niemann-Pick disease B 0 PE1 -NX_P17480 89406 764 5.63 17 Nucleolus;Nucleolus NA 0 PE1 -NX_P17481 27574 243 8.48 17 Nucleus;Nucleoplasm NA 0 PE1 -NX_P17482 28059 250 9.01 17 Nucleus;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_P17483 27604 251 9.82 17 Nucleus;Nucleus;Centrosome NA 0 PE1 -NX_P17509 25432 224 8.45 17 Nucleus;Golgi apparatus;Nucleus NA 0 PE1 -NX_P17516 37067 323 6.46 10 Cytoplasm 46,XY sex reversal 8 0 PE1 -NX_P17535 35174 347 6.86 19 Nucleus;Nucleus NA 0 PE1 -NX_P17538 27713 263 6.79 16 Extracellular space NA 0 PE2 -NX_P17540 47504 419 8.46 5 Mitochondrion inner membrane NA 0 PE1 -NX_P17542 34271 331 7.81 1 Nucleus;Nucleus NA 0 PE1 -NX_P17544 52967 494 8.88 12 Nucleus;Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_P17568 16402 137 9.1 19 Cytoplasm;Mitochondrion inner membrane;Mitochondrion intermembrane space NA 0 PE1 -NX_P17600 74111 705 9.84 X Synapse;Golgi apparatus Epilepsy X-linked, with variable learning disabilities and behavior disorders 0 PE1 -NX_P17612 40590 351 8.84 19 Cytoplasm;Cell membrane;Nucleus;Mitochondrion;Membrane;Flagellum;Acrosome Primary pigmented nodular adrenocortical disease 4 0 PE1 -NX_P17643 60724 537 5.62 9 Cytoplasmic vesicle;Melanosome membrane;Melanosome Albinism, oculocutaneous, 3 1 PE1 -NX_P17655 79995 700 4.87 1 Cytoplasm;Cell membrane;Cytosol NA 0 PE1 -NX_P17658 58729 529 4.9 12 Cell membrane NA 6 PE1 -NX_P17661 53536 470 5.21 2 Cytoplasm;Cytoskeleton;Z line;Sarcolemma;Nucleus Limb-girdle muscular dystrophy 2R;Cardiomyopathy, dilated 1I;Myopathy, myofibrillar, 1;Neurogenic scapuloperoneal syndrome Kaeser type 0 PE1 -NX_P17676 36106 345 8.55 20 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P17677 24803 238 4.64 3 Cytoplasm;Cell membrane;Cell membrane;Synapse;Cell membrane;Growth cone membrane;Filopodium membrane NA 0 PE1 -NX_P17693 38224 338 5.47 6 Cell membrane;Secreted NA 1 PE1 -NX_P17706 48473 415 8.51 18 Nucleoplasm;Endoplasmic reticulum;Cell membrane;Endoplasmic reticulum-Golgi intermediate compartment;Nucleus;Cytoplasm NA 0 PE1 -NX_P17707 38340 334 5.71 6 Nucleoplasm NA 0 PE1 -NX_P17735 50399 454 5.92 16 NA Tyrosinemia 2 0 PE1 -NX_P17752 50985 444 6.77 11 Cytosol NA 0 PE1 -NX_P17787 57019 502 6.33 1 Postsynaptic cell membrane;Cell membrane Epilepsy, nocturnal frontal lobe, 3 4 PE1 -NX_P17812 66690 591 6.02 1 Cytosol;Cytoskeleton Immunodeficiency 24 0 PE1 -NX_P17813 70578 658 6.14 9 Cell membrane Telangiectasia, hereditary hemorrhagic, 1 1 PE1 -NX_P17844 69148 614 9.06 17 Nucleus;Nucleolus;Nucleoplasm;Nucleolus NA 0 PE1 -NX_P17858 85018 780 7.26 21 Cytoplasm;Nucleolus;Mitochondrion NA 0 PE1 -NX_P17861 28695 261 9.71 22 Nucleus;Nucleus;Cytoplasm;Endoplasmic reticulum;Nucleus;Cytoplasm;Endoplasmic reticulum membrane;Endoplasmic reticulum membrane;Membrane Major affective disorder 7 1 PE1 -NX_P17900 20838 193 5.17 5 Lysosome GM2-gangliosidosis AB 0 PE1 -NX_P17927 223663 2039 6.57 1 Membrane NA 1 PE1 -NX_P17931 26152 250 8.58 14 Nucleus;Cytoplasm;Nucleus;Cytoplasm;Cell membrane;Secreted;Nucleoplasm;Cytosol NA 0 PE1 -NX_P17936 31674 291 9.03 7 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Secreted NA 0 PE1 -NX_P17947 31083 270 6.31 11 Nucleus;Nucleoplasm NA 0 PE1 -NX_P17948 150769 1338 8.66 13 Cell membrane;Cytoskeleton;Secreted;Cell membrane;Endosome;Cytoplasm NA 1 PE1 -NX_P17980 49204 439 5.13 11 Nucleus;P-body;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_P17987 60344 556 5.8 6 Cytoplasm;Cytoplasm;Centrosome NA 0 PE1 -NX_P18031 49967 435 5.88 20 Endoplasmic reticulum;Endoplasmic reticulum;Endoplasmic reticulum membrane NA 0 PE1 -NX_P18054 75694 663 5.82 17 Nucleus speckle;Cytosol;Cytosol;Membrane Esophageal cancer;Colorectal cancer 0 PE1 -NX_P18065 34814 325 7.48 2 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_P18074 86909 760 6.72 19 Nucleoplasm;Nucleus;Spindle Xeroderma pigmentosum complementation group D;Trichothiodystrophy 1, photosensitive;Cerebro-oculo-facio-skeletal syndrome 2 0 PE1 -NX_P18075 49313 431 7.74 20 Nucleolus;Cytoplasmic vesicle;Nucleus;Secreted NA 0 PE1 -NX_P18077 12538 110 11.07 3 NA Diamond-Blackfan anemia 5 0 PE1 -NX_P18084 88054 799 5.72 3 Cell membrane;Mitochondrion;Membrane NA 1 PE1 -NX_P18085 20511 180 6.6 3 Golgi apparatus;Golgi apparatus;Membrane NA 0 PE1 -NX_P18089 49954 450 8.8 2 Cell membrane Epilepsy, familial adult myoclonic, 2 7 PE1 -NX_P18124 29226 248 10.66 8 Nucleolus;Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P18146 57507 543 8.51 5 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P18206 123799 1134 5.5 10 Cytoplasm;Cytoskeleton;Focal adhesion;Sarcolemma;Cell membrane;Focal adhesion;Adherens junction Cardiomyopathy, familial hypertrophic 15;Cardiomyopathy, dilated 1W 0 PE1 -NX_P18283 21954 190 7.64 14 Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_P18405 29459 259 9.19 5 Microsome membrane;Endoplasmic reticulum membrane NA 5 PE1 -NX_P18428 53384 481 6.23 20 Secreted;Cytoplasmic granule membrane NA 0 PE1 -NX_P18433 90600 802 6.26 20 Membrane;Nucleus;Cytoplasmic vesicle NA 1 PE1 -NX_P18440 33899 290 6.09 8 Cytoplasm NA 0 PE1 -NX_P18462 41218 365 6.09 6 Membrane NA 1 PE1 -NX_P18463 40456 362 5.78 6 Membrane NA 1 PE1 -NX_P18464 40566 362 5.96 6 Membrane NA 1 PE1 -NX_P18465 40224 362 5.89 6 Membrane NA 1 PE1 -NX_P18505 54235 474 8.88 4 Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, early infantile, 45 4 PE1 -NX_P18507 54162 467 8.72 5 Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane;Dendrite Generalized epilepsy with febrile seizures plus 3;Epilepsy, childhood absence 2;Febrile seizures, familial, 8 4 PE1 -NX_P18509 18835 176 9.83 18 Secreted NA 0 PE1 -NX_P18510 20055 177 5.83 2 Secreted;Cytoplasm Microvascular complications of diabetes 4;Interleukin 1 receptor antagonist deficiency 0 PE1 -NX_P18545 9643 87 9.52 17 NA Retinitis pigmentosa 57 0 PE1 -NX_P18564 85936 788 5.34 2 Centrosome;Nucleoplasm;Cell junction;Membrane;Focal adhesion Amelogenesis imperfecta 1H 1 PE1 -NX_P18577 45560 417 9.45 1 Membrane NA 11 PE1 -NX_P18583 263830 2426 5.5 21 Nucleus;Nucleus speckle;Nucleus speckle ZTTK syndrome 0 PE1 -NX_P18615 43240 380 9.36 6 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_P18621 21397 184 10.18 18 Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P18627 57449 525 8.14 12 Membrane NA 1 PE1 -NX_P18669 28804 254 6.67 10 NA NA 0 PE1 -NX_P18754 44969 421 7.18 1 Nucleus;Cytoplasm;Nucleus membrane;Nucleus NA 0 PE1 -NX_P18825 49522 462 10.32 4 Cell membrane NA 7 PE2 -NX_P18827 32462 310 4.53 2 Focal adhesion;Membrane;Secreted;Exosome NA 1 PE1 -NX_P18846 29233 271 8.44 12 Nucleoplasm;Nucleus;Nucleus Angiomatoid fibrous histiocytoma 0 PE1 -NX_P18847 20576 181 8.8 1 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_P18848 38590 351 4.83 22 Cytosol;Microtubule organizing center;Cell membrane;Nucleus;Centrosome;Cytoplasm NA 0 PE1 -NX_P18850 74585 670 8.36 1 Cytosol;Endoplasmic reticulum membrane;Nucleus Achromatopsia 7 1 PE1 -NX_P18858 101736 919 5.49 19 Golgi apparatus;Nucleus;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_P18859 12588 108 9.52 21 Mitochondrion inner membrane;Mitochondrion;Mitochondrion NA 0 PE1 -NX_P18887 69477 633 6.02 19 Nucleoplasm;Nucleus Spinocerebellar ataxia, autosomal recessive, 26 0 PE1 -NX_P19012 49212 456 4.71 17 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_P19013 57285 534 6.25 12 Cytoskeleton White sponge nevus 1 0 PE1 -NX_P19021 108332 973 5.98 5 Cytosol;Golgi apparatus;Secreted;Membrane NA 1 PE1 -NX_P19022 99809 906 4.64 18 Cell junction;Cell surface;Cell junction;Cell membrane;Cell membrane;Sarcolemma NA 1 PE1 -NX_P19075 26044 237 5.48 12 Nucleoplasm;Membrane NA 4 PE1 -NX_P19086 40924 355 7.53 22 Cytoplasmic vesicle;Membrane NA 0 PE1 -NX_P19087 40176 354 5.1 1 NA Achromatopsia 4 0 PE1 -NX_P19099 57560 503 9.47 8 Mitochondrion membrane Corticosterone methyloxidase 1 deficiency;Corticosterone methyloxidase 2 deficiency;Hyperaldosteronism, familial, 1 0 PE1 -NX_P19105 19794 171 4.67 18 NA NA 0 PE1 -NX_P19113 74141 662 8.3 15 NA NA 0 PE1 -NX_P19174 148532 1290 5.73 20 Cytosol;Ruffle;Lamellipodium NA 0 PE1 -NX_P19224 60751 532 8.66 2 Microsome;Endoplasmic reticulum membrane NA 1 PE1 -NX_P19235 55065 508 4.64 19 Cell membrane;Secreted;Cytoplasmic vesicle Erythrocytosis, familial, 1 1 PE1 -NX_P19237 21692 187 9.61 1 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_P19256 28147 250 6.3 1 Cell membrane;Cell membrane NA 1 PE1 -NX_P19320 81276 739 5.14 1 Membrane;Cell junction NA 1 PE1 -NX_P19338 76614 710 4.6 2 Nucleus;Nucleolus;Nucleolus;Cytoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_P19367 102486 917 6.36 10 Mitochondrion;Mitochondrion outer membrane Hexokinase deficiency;Neuropathy, hereditary motor and sensory, Russe type;Retinitis pigmentosa 79 0 PE1 -NX_P19387 31441 275 4.79 16 Cytosol;Nucleus;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_P19388 24551 210 5.69 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_P19397 24341 219 7.48 1 Cell membrane;Cell junction;Membrane NA 4 PE1 -NX_P19404 27392 249 8.22 18 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P19419 44888 428 6.42 X Nucleoplasm;Nucleus NA 0 PE1 -NX_P19429 24008 210 9.87 19 Cytosol;Cytoplasmic vesicle Cardiomyopathy, familial restrictive 1;Cardiomyopathy, dilated 1FF;Cardiomyopathy, dilated 2A;Cardiomyopathy, familial hypertrophic 7 0 PE1 -NX_P19438 50495 455 6.23 12 Cell membrane;Golgi apparatus membrane;Secreted Multiple sclerosis 5;Familial hibernian fever 1 PE1 -NX_P19440 61410 569 6.65 22 Cell membrane Glutathionuria 1 PE1 -NX_P19447 89278 782 6.83 2 Nucleus;Nucleoplasm Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum complementation group B 0 PE1 -NX_P19474 54170 475 5.98 11 Cytoplasm;Autophagosome;Nucleus;P-body;Nucleoplasm NA 0 PE1 -NX_P19484 52865 476 5.87 6 Cytoplasm;Nucleus NA 0 PE1 -NX_P19525 62094 551 8.58 2 Nucleus;Cytosol;Cytoplasm;Perinuclear region NA 0 PE1 -NX_P19526 41251 365 6.92 19 Golgi stack membrane NA 1 PE1 -NX_P19532 61521 575 5.41 X Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P19544 49188 449 9.23 11 Nucleus;Nucleolus;Cytoplasm;Nucleus speckle;Nucleoplasm;Nucleoplasm Meacham syndrome;Mesothelioma, malignant;Wilms tumor 1;Denys-Drash syndrome;Nephrotic syndrome 4;Frasier syndrome 0 PE1 -NX_P19622 34211 333 9.49 7 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_P19623 33825 302 5.3 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_P19634 90763 815 6.74 1 Cell membrane;Membrane;Endoplasmic reticulum membrane;Cell membrane Lichtenstein-Knorr syndrome 12 PE1 -NX_P19652 23603 201 5.03 9 Secreted NA 0 PE1 -NX_P19784 41213 350 8.65 16 Nucleoplasm;Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_P19793 50811 462 7.92 9 Nucleus;Nucleus;Golgi apparatus NA 0 PE1 -NX_P19801 85378 751 6.6 7 Extracellular space NA 0 PE1 -NX_P19823 106463 946 6.4 10 Golgi apparatus;Secreted NA 0 PE1 -NX_P19827 101389 911 6.31 3 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P19835 79322 753 5.13 9 Secreted Maturity-onset diabetes of the young 8 with exocrine dysfunction 0 PE1 -NX_P19838 105356 968 5.2 4 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Immunodeficiency, common variable, 12 0 PE1 -NX_P19875 11389 107 10.57 4 Secreted NA 0 PE1 -NX_P19876 11342 107 10.4 4 Secreted NA 0 PE1 -NX_P19878 59762 526 5.88 1 Cytosol;Nucleolus;Cytoplasm Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive 0 PE1 -NX_P19883 38007 344 5.53 5 Secreted NA 0 PE1 -NX_P19957 12270 117 9.14 20 Cell membrane;Secreted NA 0 PE1 -NX_P19961 57710 511 6.64 1 Secreted NA 0 PE1 -NX_P19971 49955 482 5.36 22 Golgi apparatus;Nucleus Mitochondrial DNA depletion syndrome 1, MNGIE type 0 PE1 -NX_P20020 138755 1258 5.73 12 Cell membrane;Cell membrane NA 10 PE1 -NX_P20023 112916 1033 7.74 1 Membrane Systemic lupus erythematosus 9;Immunodeficiency, common variable, 7 1 PE1 -NX_P20036 29381 260 5.07 6 trans-Golgi network membrane;Endoplasmic reticulum membrane;Cell membrane;Cytoplasmic vesicle;Lysosome membrane;Endosome membrane NA 1 PE1 -NX_P20039 30160 266 6.71 6 Cell membrane;Endoplasmic reticulum membrane;Late endosome membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane NA 1 PE1 -NX_P20042 38388 333 5.6 20 Cytoplasm;Nucleolus;Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_P20061 48207 433 4.96 11 Secreted NA 0 PE1 -NX_P20062 47535 427 6.52 22 Secreted;Cytosol Transcobalamin II deficiency 0 PE1 -NX_P20073 52739 488 5.52 10 Nucleoplasm;Cytosol NA 0 PE1 -NX_P20132 34625 328 8.15 12 Mitochondrion;Cytosol;Cytoplasm NA 0 PE1 -NX_P20138 39825 364 8.68 19 Cell membrane;Nucleus;Cell membrane NA 1 PE1 -NX_P20142 42426 388 4.36 6 Secreted;Nucleus NA 0 PE1 -NX_P20151 28671 261 6.44 19 NA NA 0 PE1 -NX_P20155 9291 84 9.3 4 Secreted NA 0 PE1 -NX_P20160 26886 251 9.75 19 Cytoplasmic granule membrane NA 0 PE1 -NX_P20226 37698 339 9.8 6 Nucleoplasm;Nucleus Spinocerebellar ataxia 17 0 PE1 -NX_P20231 30515 275 6.62 16 Secreted NA 0 PE1 -NX_P20248 48551 432 6.1 4 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_P20264 50327 500 7.51 2 Nucleus;Nucleus NA 0 PE1 -NX_P20265 46893 443 7.51 6 Nucleus;Nucleus NA 0 PE1 -NX_P20273 95348 847 6.21 19 Cell membrane NA 1 PE1 -NX_P20290 22168 206 9.41 5 Nucleus;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P20292 18157 161 8.58 13 Nucleus membrane;Endoplasmic reticulum membrane Ischemic stroke 4 PE1 -NX_P20309 66128 590 9.33 1 Cell membrane;Cell membrane;Postsynaptic cell membrane;Basolateral cell membrane Prune belly syndrome 7 PE1 -NX_P20333 48291 461 5.88 1 Secreted;Cell membrane;Secreted NA 1 PE1 -NX_P20336 24984 220 4.85 19 Nucleoplasm;Cytosol;Centrosome;Cell membrane NA 0 PE1 -NX_P20337 24758 219 4.85 1 Cell membrane NA 0 PE1 -NX_P20338 24390 218 5.82 1 Cytoplasm;Early endosome membrane;Recycling endosome membrane;Membrane;Cytoplasm NA 0 PE1 -NX_P20339 23659 215 8.32 3 Cell membrane;Early endosome membrane;Melanosome;Cytoplasmic vesicle;Ruffle;Membrane;Cytosol;Phagosome membrane;Endosome membrane NA 0 PE1 -NX_P20340 23593 208 5.42 11 Golgi apparatus membrane NA 0 PE1 -NX_P20366 15003 129 8.89 7 Secreted NA 0 PE1 -NX_P20382 18679 165 6.74 12 Secreted NA 0 PE1 -NX_P20393 66805 614 8.83 17 Nucleus;Nucleus;Cytoplasm;Dendrite;Dendritic spine NA 0 PE1 -NX_P20396 27404 242 5.34 3 Secreted NA 0 PE1 -NX_P20472 12059 110 4.98 22 Nucleoplasm;Cell junction;Nucleolus NA 0 PE1 -NX_P20585 127412 1137 8.2 5 Nucleus Endometrial cancer;Familial adenomatous polyposis 4 0 PE1 -NX_P20591 75520 662 5.6 21 Cytosol;Cytoplasm;Endoplasmic reticulum membrane;Perinuclear region;Nucleus membrane;Nucleus NA 0 PE1 -NX_P20592 82089 715 8.91 21 Cytoplasm;Nucleus;Nuclear pore complex NA 0 PE1 -NX_P20594 117022 1047 6.41 9 Cell membrane Short stature with non-specific skeletal abnormalities;Acromesomelic dysplasia, Maroteaux type;Epiphyseal chondrodysplasia, Miura type 1 PE1 -NX_P20618 26489 241 8.27 6 Nucleus;Cytoplasm;Cytoplasm;Nucleus;Nucleus NA 0 PE1 -NX_P20645 30993 277 5.57 12 Lysosome membrane NA 1 PE1 -NX_P20648 114119 1035 5.58 19 Cell membrane NA 10 PE1 -NX_P20671 14107 130 10.9 6 Nucleus;Chromosome NA 0 PE1 -NX_P20674 16762 150 6.3 15 Mitochondrion inner membrane NA 0 PE1 -NX_P20700 66408 586 5.11 5 Nucleus;Nucleus membrane;Nucleus inner membrane Leukodystrophy, demyelinating, autosomal dominant, adult-onset 0 PE1 -NX_P20701 128770 1170 5.4 16 Cell membrane NA 1 PE1 -NX_P20702 127829 1163 6.19 16 Membrane NA 1 PE1 -NX_P20711 53926 480 6.77 7 Cytoskeleton Aromatic L-amino-acid decarboxylase deficiency 0 PE1 -NX_P20718 27315 246 9.83 14 Cytoplasmic granule NA 0 PE1 -NX_P20719 29345 270 9.32 7 Nucleus NA 0 PE1 -NX_P20742 163863 1482 5.97 12 Secreted NA 0 PE1 -NX_P20749 47584 454 8.72 19 Cytoplasmic vesicle;Nucleoplasm;Perinuclear region;Cytoplasm;Midbody;Nucleus NA 0 PE1 -NX_P20774 33922 298 5.46 9 Endoplasmic reticulum;Endoplasmic reticulum;Extracellular matrix NA 0 PE1 -NX_P20783 29355 257 9.46 12 Secreted NA 0 PE1 -NX_P20794 70581 623 9.67 6 Centrosome;Nucleus;Photoreceptor outer segment;Midbody;Spindle;Photoreceptor inner segment Retinitis pigmentosa 62 0 PE1 -NX_P20800 19960 178 10.3 1 Cytosol;Secreted NA 0 PE1 -NX_P20807 94254 821 5.81 15 Cytoplasm Limb-girdle muscular dystrophy 2A 0 PE1 -NX_P20809 21429 199 10.64 19 Mitochondrion;Secreted NA 0 PE1 -NX_P20810 76573 708 4.98 5 Cytoplasm;Cytosol;Endoplasmic reticulum Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 0 PE1 -NX_P20813 56278 491 8.43 19 Cytosol;Nucleus membrane;Endoplasmic reticulum membrane;Microsome membrane;Nucleoplasm NA 0 PE1 -NX_P20815 57109 502 8.86 7 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P20823 67356 631 5.82 12 Nucleus Maturity-onset diabetes of the young 3;Diabetes mellitus, insulin-dependent, 20;Hepatic adenomas familial 0 PE1 -NX_P20827 23787 205 6.34 1 Cell membrane;Secreted NA 0 PE1 -NX_P20839 55406 514 6.43 7 Cytoplasm;Nucleus Leber congenital amaurosis 11;Retinitis pigmentosa 10 0 PE1 -NX_P20848 47891 420 7.73 14 Endoplasmic reticulum NA 0 PE1 -NX_P20849 91869 921 8.94 6 Extracellular matrix Stickler syndrome 4;Multiple epiphyseal dysplasia 6 0 PE1 -NX_P20851 28357 252 5.05 1 Secreted NA 0 PE1 -NX_P20853 56425 494 7.69 19 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P20908 183560 1838 4.94 9 Cytoplasmic vesicle;Extracellular matrix Ehlers-Danlos syndrome, classic type 0 PE1 -NX_P20916 69069 626 4.97 19 Cell membrane;Membrane raft Spastic paraplegia 75, autosomal recessive 1 PE1 -NX_P20929 772914 6669 9.11 2 Cytoskeleton;Sarcomere Nemaline myopathy 2 0 PE1 -NX_P20930 435170 4061 9.24 1 Cytoplasmic vesicle;Cytoplasmic granule Dermatitis atopic 2;Ichthyosis vulgaris 0 PE1 -NX_P20933 37208 346 5.86 4 Lysosome Aspartylglucosaminuria 0 PE1 -NX_P20936 116403 1047 6.11 5 Cytoplasm Capillary malformation-arteriovenous malformation;Parkes Weber syndrome 0 PE1 -NX_P20941 28246 246 5.08 1 Cytosol;Nucleus;Photoreceptor outer segment;Photoreceptor inner segment NA 0 PE1 -NX_P20962 11530 102 4.14 12 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_P20963 18696 164 9.28 1 Membrane Immunodeficiency 25 1 PE1 -NX_P21108 34839 318 5.92 7 NA NA 0 PE1 -NX_P21127 92707 795 5.45 1 Nucleus;Cytoplasm NA 0 PE1 -NX_P21128 46872 410 5.26 12 Secreted NA 0 PE1 -NX_P21145 16714 153 5.55 2 Centrosome;Membrane NA 4 PE1 -NX_P21217 42117 361 9.16 19 Golgi stack membrane NA 1 PE1 -NX_P21246 18942 168 9.66 7 Golgi apparatus;Secreted NA 0 PE1 -NX_P21266 26560 225 5.37 1 Nucleolus;Cytosol;Cytoplasm NA 0 PE1 -NX_P21281 56501 511 5.57 8 Endomembrane system;Melanosome;Cytoplasmic vesicle Zimmermann-Laband syndrome 2;Deafness, congenital, with onychodystrophy, autosomal dominant 0 PE1 -NX_P21283 43942 382 7.02 8 Cytosol;Nucleoplasm NA 0 PE1 -NX_P21291 20567 193 8.9 1 Nucleus NA 0 PE1 -NX_P21333 280739 2647 5.7 X Cell cortex;Cytosol;Cytoskeleton;Cell membrane;Cytoskeleton Congenital short bowel syndrome, X-linked;FG syndrome 2;Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked;Terminal osseous dysplasia;Frontometaphyseal dysplasia 1;Otopalatodigital syndrome 2;Otopalatodigital syndrome 1;Cardiac valvular dysplasia X-linked 0 PE1 -NX_P21359 319372 2839 7.1 17 Mitochondrion;Nucleus;Nucleolus Neurofibromatosis 1;Neurofibromatosis-Noonan syndrome;Familial spinal neurofibromatosis;Watson syndrome;Colorectal cancer;Leukemia, juvenile myelomonocytic 0 PE1 -NX_P21397 59682 527 7.94 X Mitochondrion outer membrane;Mitochondrion Brunner syndrome 1 PE1 -NX_P21399 98399 889 6.23 9 Cytosol;Mitochondrion;Cytoplasm NA 0 PE1 -NX_P21439 141523 1286 8.65 7 Membrane raft;Cell membrane;Apical cell membrane;Cytoskeleton;Cell membrane;Focal adhesion;Cytoplasm;Clathrin-coated vesicle;Nucleoplasm Cholestasis, progressive familial intrahepatic, 3;Cholestasis of pregnancy, intrahepatic 3;Gallbladder disease 1 12 PE1 -NX_P21452 44442 398 8.86 10 Cell membrane NA 7 PE1 -NX_P21453 42811 382 9.59 1 Cell membrane;Endosome;Cytoplasmic vesicle;Membrane raft NA 7 PE1 -NX_P21462 38446 350 9.23 19 Golgi apparatus;Cell membrane;Nucleus;Nucleolus NA 7 PE1 -NX_P21506 66455 573 8.68 12 Nucleus;Cell membrane;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_P21549 43010 392 8.61 2 Mitochondrion;Peroxisome;Cytoplasmic vesicle Hyperoxaluria primary 1 0 PE1 -NX_P21554 52858 472 8.47 6 Mitochondrion outer membrane;Cell membrane;Cell membrane;Axon;Cytoskeleton;Membrane raft Obesity 7 PE1 -NX_P21579 47573 422 8.26 12 Cytoplasm;Secretory vesicle membrane;Synaptic vesicle membrane;Chromaffin granule membrane NA 1 PE1 -NX_P21580 89614 790 8.61 6 Cytosol;Centrosome;Lysosome;Nucleus;Cytoplasm;Cytoplasm Autoinflammatory syndrome, familial, Behcet-like 0 PE1 -NX_P21583 30899 273 5.86 12 Cytoplasmic vesicle;Cell membrane;Cytoskeleton;Lamellipodium;Secreted;Filopodium;Cytoplasm Deafness, congenital, unilateral or asymmetric;Hyperpigmentation with or without hypopigmentation, familial progressive 1 PE1 -NX_P21589 63368 574 6.58 6 Cell membrane;Cell membrane;Cytosol Calcification of joints and arteries 0 PE1 -NX_P21673 20024 171 5.09 X Nucleus;Cytoplasm;Cytoplasm Keratosis follicularis spinulosa decalvans X-linked 0 PE1 -NX_P21675 212677 1872 4.97 X Nucleus;Nucleoplasm Mental retardation, X-linked, syndromic, 33;Dystonia 3, torsion, X-linked 0 PE1 -NX_P21695 37568 349 5.81 12 Cytoplasm Hypertriglyceridemia, transient infantile 0 PE1 -NX_P21709 108127 976 6.2 7 Cell membrane NA 1 PE1 -NX_P21728 49293 446 8.64 5 Endoplasmic reticulum membrane;Cell membrane NA 7 PE1 -NX_P21730 39336 350 9.22 19 Cell membrane;Cytoplasmic vesicle NA 7 PE1 -NX_P21731 37431 343 10 19 Cell membrane;Nucleus speckle;Cell membrane Bleeding disorder, platelet-type 13 7 PE1 -NX_P21741 15585 143 9.84 11 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P21754 47018 424 5.49 7 Cytoplasm;Extracellular matrix;Cell membrane NA 1 PE1 -NX_P21757 49762 451 5.61 8 Membrane Barrett esophagus;Prostate cancer 1 PE1 -NX_P21781 22509 194 9.29 15 Nucleolus;Nucleus;Secreted NA 0 PE1 -NX_P21796 30773 283 8.62 5 Cytosol;Membrane raft;Cell membrane;Mitochondrion outer membrane NA 0 PE1 -NX_P21802 92025 821 5.61 10 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Cytoplasmic vesicle;Secreted Jackson-Weiss syndrome;Crouzon syndrome;Familial scaphocephaly syndrome;Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis;Lacrimo-auriculo-dento-digital syndrome;Bent bone dysplasia syndrome;Pfeiffer syndrome;Beare-Stevenson cutis gyrata syndrome;Saethre-Chotzen syndrome;Apert syndrome 1 PE1 -NX_P21810 41654 368 7.16 X Golgi apparatus;Golgi apparatus;Endoplasmic reticulum;Extracellular matrix Meester-Loeys syndrome;Spondyloepimetaphyseal dysplasia, X-linked 0 PE1 -NX_P21815 35148 317 4.14 4 Secreted NA 0 PE1 -NX_P21817 565176 5038 5.18 19 Sarcoplasmic reticulum;Cytoplasmic vesicle;Golgi apparatus;Sarcoplasmic reticulum membrane;Cytosol Multiminicore disease with external ophthalmoplegia;Malignant hyperthermia 1;Central core disease of muscle 6 PE1 -NX_P21854 40220 359 8.62 9 Membrane;Nucleus;Mitochondrion NA 1 PE1 -NX_P21860 148098 1342 6.11 12 Cell membrane;Cell membrane;Cytoskeleton;Secreted Lethal congenital contracture syndrome 2 1 PE1 -NX_P21912 31630 280 9.03 1 Cell membrane;Mitochondrion;Nucleoplasm;Mitochondrion inner membrane Pheochromocytoma;Paragangliomas 4;Cowden syndrome 2;Paraganglioma and gastric stromal sarcoma 0 PE1 -NX_P21917 48361 467 8.79 11 Cell membrane NA 7 PE1 -NX_P21918 52951 477 5.23 4 Cell membrane Benign essential blepharospasm 7 PE1 -NX_P21926 25416 228 6.8 12 Cytoplasm;Cell membrane;Membrane;Cell membrane NA 4 PE1 -NX_P21941 53701 496 7.85 1 Extracellular matrix NA 0 PE1 -NX_P21953 43122 392 5.89 6 Mitochondrion matrix Maple syrup urine disease 1B 0 PE1 -NX_P21964 30037 271 5.26 22 Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane;Cytoplasm Schizophrenia 1 PE1 -NX_P21980 77329 687 5.11 20 Cytosol;Cell membrane NA 0 PE1 -NX_P22001 63842 575 5.61 1 Cell membrane NA 6 PE1 -NX_P22003 51737 454 9.07 6 Secreted NA 0 PE2 -NX_P22004 57226 513 8.39 6 Mitochondrion;Secreted NA 0 PE1 -NX_P22033 83134 750 6.48 6 Mitochondrion;Mitochondrion matrix;Cytosol Methylmalonic aciduria type mut 0 PE1 -NX_P22059 89421 807 6.91 11 Cytosol;Golgi apparatus;Cytosol;Nucleus;Perinuclear region;Golgi apparatus membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_P22061 24636 227 6.7 6 Cytoplasm;Cytosol NA 0 PE1 -NX_P22079 80288 712 8.89 17 Secreted NA 0 PE1 -NX_P22083 59084 530 10.04 11 Cytoplasmic vesicle;Golgi stack membrane NA 1 PE1 -NX_P22087 33784 321 10.18 19 Nucleolus;Nucleolus;Nucleus NA 0 PE1 -NX_P22090 29456 263 10.25 Y NA NA 0 PE1 -NX_P22102 107767 1010 6.26 21 Nucleoplasm;Mitochondrion;Cytosol NA 0 PE1 -NX_P22105 458220 4242 5.05 6 Extracellular matrix Ehlers-Danlos syndrome due to tenascin X deficiency;Vesicoureteral reflux 8 0 PE1 -NX_P22223 91418 829 4.61 16 Cell membrane;Cytosol;Cell junction Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome;Hypotrichosis congenital with juvenile macular dystrophy 1 PE1 -NX_P22234 47079 425 6.94 4 Cytosol NA 0 PE1 -NX_P22301 20517 178 8.19 1 Secreted NA 0 PE1 -NX_P22303 67796 614 5.87 7 Nucleus;Cell membrane;Cell membrane;Synapse;Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 -NX_P22304 61873 550 5.21 X Endoplasmic reticulum;Lysosome Mucopolysaccharidosis 2 0 PE1 -NX_P22307 58994 547 6.44 1 Peroxisome;Peroxisome;Mitochondrion;Cytoplasm Leukoencephalopathy with dystonia and motor neuropathy 0 PE1 -NX_P22309 59591 533 8.19 2 Endoplasmic reticulum membrane;Endoplasmic reticulum;Microsome Crigler-Najjar syndrome 1;Gilbert syndrome;Crigler-Najjar syndrome 2;Transient familial neonatal hyperbilirubinemia 1 PE1 -NX_P22310 60025 534 8.79 2 Microsome;Endoplasmic reticulum membrane Gilbert syndrome;Crigler-Najjar syndrome 2;Crigler-Najjar syndrome 1 1 PE1 -NX_P22314 117849 1058 5.49 X Nucleoplasm;Nucleus;Mitochondrion;Cytoplasm Spinal muscular atrophy X-linked 2 0 PE1 -NX_P22352 25552 226 8.26 5 Secreted NA 0 PE1 -NX_P22362 10992 96 9.3 17 Secreted NA 0 PE1 -NX_P22392 17298 152 8.52 17 Lamellipodium;Ruffle;Cytoplasm;Nucleus NA 0 PE1 -NX_P22413 104924 925 6.76 6 Cell membrane;Basolateral cell membrane;Secreted Cole disease;Hypophosphatemic rickets, autosomal recessive, 2;Ossification of the posterior longitudinal ligament of the spine;Diabetes mellitus, non-insulin-dependent;Arterial calcification of infancy, generalized, 1 1 PE1 -NX_P22415 33538 310 5.36 1 Nucleoplasm;Nucleus Hyperlipidemia combined 1 0 PE1 -NX_P22455 87954 802 6.36 5 Cell membrane;Endosome;Cytoplasm;Endoplasmic reticulum;Secreted Prostate cancer 1 PE1 -NX_P22459 73257 653 5.08 11 Cell membrane;Axon NA 6 PE1 -NX_P22460 67228 613 5.68 12 Cell membrane Atrial fibrillation, familial, 7 6 PE1 -NX_P22466 13302 123 6.84 11 Secreted;Cytoplasmic vesicle;Golgi apparatus Epilepsy, familial temporal lobe, 8 0 PE1 -NX_P22492 22019 207 11.71 6 Chromosome;Nucleus NA 0 PE1 -NX_P22528 9888 89 8.85 1 Cytoplasm NA 0 PE1 -NX_P22531 7855 72 8.73 1 Cytoplasm NA 0 PE2 -NX_P22532 7905 72 8.77 1 Cytoplasm NA 0 PE2 -NX_P22557 64633 587 8.39 X Mitochondrion matrix Anemia, sideroblastic, 1;Erythropoietic protoporphyria, X-linked dominant 0 PE1 -NX_P22570 53837 491 8.72 17 Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_P22607 87710 806 5.59 4 Secreted;Cell membrane;Cytoplasmic vesicle;Endoplasmic reticulum;Endoplasmic reticulum Achondroplasia, severe, with developmental delay and acanthosis nigricans;Keratinocytic non-epidermolytic nevus;Muenke syndrome;Lacrimo-auriculo-dento-digital syndrome;Cervical cancer;Bladder cancer;Crouzon syndrome with acanthosis nigricans;Camptodactyly, tall stature, and hearing loss syndrome;Thanatophoric dysplasia 1;Thanatophoric dysplasia 2;Achondroplasia;Testicular germ cell tumor;Hypochondroplasia;Keratosis, seborrheic;Multiple myeloma 1 PE1 -NX_P22612 40434 351 8.7 9 NA Bleeding disorder, platelet-type 19 0 PE1 -NX_P22626 37430 353 8.97 7 Nucleus;Cytoplasm;Nucleoplasm;Cytoplasmic granule;Exosome;Nucleus Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 0 PE1 -NX_P22670 104758 979 5.89 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_P22674 38096 350 8.44 5 Cytoplasm Ciliary dyskinesia, primary, 29 0 PE1 -NX_P22676 31540 271 5.06 16 Cytosol NA 0 PE1 -NX_P22680 57661 504 8.48 8 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P22681 99633 906 6.1 11 Cytoplasm;Cytosol;Cell membrane Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 0 PE1 -NX_P22692 27934 258 6.81 17 Secreted NA 0 PE1 -NX_P22694 40623 351 8.84 1 Cytoplasm;Cell membrane;Membrane;Nucleus NA 0 PE1 -NX_P22695 48443 453 8.74 16 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex III deficiency, nuclear 5 0 PE1 -NX_P22732 54974 501 5.81 1 Apical cell membrane;Cell membrane;Sarcolemma NA 12 PE1 -NX_P22735 89787 817 5.68 14 Membrane Ichthyosis, congenital, autosomal recessive 1 0 PE1 -NX_P22736 64463 598 6.82 12 Cytosol;Cytoplasm;Nucleus;Nucleus NA 0 PE1 -NX_P22748 35032 312 7.68 17 Cell membrane;Cytoplasmic vesicle Retinitis pigmentosa 17 0 PE1 -NX_P22749 16374 145 9.39 2 Secreted NA 0 PE1 -NX_P22760 45734 399 8.75 3 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_P22792 60557 545 5.63 3 Secreted NA 0 PE1 -NX_P22794 26213 236 8.73 17 Nucleoplasm;Nucleus;Membrane NA 1 PE1 -NX_P22830 47862 423 8.96 18 Mitochondrion inner membrane Erythropoietic protoporphyria 0 PE1 -NX_P22888 78643 699 8.82 2 Cell membrane Familial male precocious puberty;Luteinizing hormone resistance 7 PE1 -NX_P22891 44744 400 5.64 13 Secreted NA 0 PE1 -NX_P22894 53412 467 6.38 11 Extracellular matrix;Cytoplasmic granule NA 0 PE1 -NX_P22897 166012 1456 6.11 10 Endosome membrane;Cell membrane NA 1 PE1 -NX_P22914 21007 178 6.44 3 Cytosol Cataract 20, multiple types 0 PE1 -NX_P23025 31368 273 6.29 9 Nucleus;Cytoskeleton;Nucleus Xeroderma pigmentosum complementation group A 0 PE1 -NX_P23083 13085 117 9.23 14 Secreted;Cell membrane NA 0 PE1 -NX_P23109 90219 780 6.53 1 NA Myopathy due to myoadenylate deaminase deficiency 0 PE1 -NX_P23141 62521 567 6.15 16 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 -NX_P23142 77214 703 5.07 22 Extracellular matrix;Endoplasmic reticulum NA 0 PE1 -NX_P23193 33970 301 8.65 8 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_P23219 68686 599 6.81 9 Cytoplasmic vesicle;Golgi apparatus;Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P23229 126606 1130 6.21 2 Cell membrane;Cell membrane Epidermolysis bullosa letalis, with pyloric atresia 1 PE1 -NX_P23246 76149 707 9.45 1 Nucleoplasm;Nucleus speckle;Nucleus matrix;Cytoplasm NA 0 PE1 -NX_P23258 51170 451 5.75 17 Centrosome Cortical dysplasia, complex, with other brain malformations 4 0 PE1 -NX_P23276 82824 732 8.09 7 Cell membrane NA 1 PE1 -NX_P23280 35367 308 6.51 1 Secreted NA 0 PE1 -NX_P23284 23743 216 9.42 15 Nucleus;Endoplasmic reticulum;Melanosome;Endoplasmic reticulum lumen Osteogenesis imperfecta 9 0 PE1 -NX_P23297 10546 94 4.39 1 Cytoplasm NA 0 PE1 -NX_P23327 80244 699 4.62 19 Sarcoplasmic reticulum lumen NA 0 PE1 -NX_P23352 76112 680 9.33 X Secreted;Cell membrane Hypogonadotropic hypogonadism 1 with or without anosmia 0 PE1 -NX_P23368 65444 584 7.52 18 Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_P23378 112730 1020 6.68 9 Mitochondrion;Nucleus;Mitochondrion Non-ketotic hyperglycinemia 0 PE1 -NX_P23381 53165 471 5.83 14 Cytoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_P23396 26688 243 9.68 11 Cytoplasm;Nucleus;Endoplasmic reticulum;Cytosol;Nucleolus;Mitochondrion inner membrane;Spindle;Cytoplasm;Nucleus NA 0 PE1 -NX_P23409 26953 242 5.71 12 Nucleus Myopathy, centronuclear, 3 0 PE1 -NX_P23415 52624 457 8.97 5 Synapse;Postsynaptic cell membrane;Cell membrane;Perikaryon;Dendrite Hyperekplexia 1 4 PE1 -NX_P23416 52002 452 9.06 X Postsynaptic cell membrane;Synapse;Cell membrane;Cell projection NA 4 PE1 -NX_P23434 18885 173 4.91 16 Mitochondrion Non-ketotic hyperglycinemia 0 PE1 -NX_P23435 21097 193 6.73 16 Postsynaptic cell membrane;Secreted NA 0 PE1 -NX_P23443 59140 525 6.21 17 Mitochondrion;Nucleus;Nucleoplasm;Synaptosome;Mitochondrion outer membrane;Cytoplasm NA 0 PE1 -NX_P23458 133277 1154 7.48 1 Endomembrane system NA 0 PE1 -NX_P23467 224301 1997 7.44 12 Membrane;Cell membrane;Cell junction;Cytoplasmic vesicle NA 1 PE1 -NX_P23468 214760 1912 6.14 9 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_P23469 80642 700 6.57 10 Cytoplasm;Cytoskeleton;Cell membrane NA 1 PE1 -NX_P23470 162003 1445 5.99 3 Membrane NA 1 PE1 -NX_P23471 254587 2315 4.76 7 Cytoplasmic vesicle;Cell membrane;Secreted NA 1 PE1 -NX_P23490 25761 312 8.5 1 Cytoplasm;Nucleoplasm Vohwinkel syndrome with ichthyosis 0 PE1 -NX_P23497 100417 879 8.49 2 Nucleus;Nucleus;PML body;Cytoplasm;Nucleus NA 0 PE1 -NX_P23508 93027 829 5.4 5 Cell membrane;Lamellipodium;Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_P23510 21050 183 6.95 1 Membrane;Cytoplasmic vesicle;Nucleus Systemic lupus erythematosus 1 PE1 -NX_P23511 36877 347 8.89 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_P23515 49608 440 8.06 17 Cell membrane NA 0 PE1 -NX_P23526 47716 432 5.92 20 Cytoplasm;Cytosol;Melanosome Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency 0 PE1 -NX_P23527 13906 126 10.31 6 Chromosome;Nucleus NA 0 PE1 -NX_P23528 18502 166 8.22 11 Lamellipodium;Nucleus matrix;Cytoskeleton;Ruffle membrane;Lamellipodium membrane NA 0 PE1 -NX_P23560 27818 247 9.01 11 Secreted;Mitochondrion;Nucleus speckle Congenital central hypoventilation syndrome;Bulimia nervosa 2 0 PE1 -NX_P23582 13246 126 10.25 2 Secreted NA 0 PE1 -NX_P23588 69151 611 5.55 12 Cytosol NA 0 PE1 -NX_P23610 39103 371 6.37 X Nucleus NA 0 PE1 -NX_P23634 137920 1241 6.19 1 Cell membrane;Cell membrane;Flagellum membrane;Cell membrane NA 10 PE1 -NX_P23677 51009 461 7.59 15 Cytoplasmic vesicle NA 0 PE1 -NX_P23743 82630 735 6.28 12 Nucleoplasm;Mitochondrion;Cytoplasmic vesicle NA 0 PE1 -NX_P23759 55119 505 9.1 1 Nucleus Rhabdomyosarcoma 2 0 PE1 -NX_P23760 52968 479 8.92 2 Nucleoplasm;Nucleus Rhabdomyosarcoma 2;Waardenburg syndrome 1;Craniofacial-deafness-hand syndrome;Waardenburg syndrome 3 0 PE1 -NX_P23763 12902 118 6.24 12 Mitochondrion outer membrane;Synaptic vesicle membrane;Synaptosome;Cytoplasmic vesicle membrane Spastic ataxia 1, autosomal dominant 1 PE1 -NX_P23769 50500 480 9.43 3 Nucleus;Nucleoplasm Lymphedema, primary, with myelodysplasia;Immunodeficiency 21;Myelodysplastic syndrome 0 PE1 -NX_P23771 47916 443 9.52 10 Nucleus;Nucleus;Nucleoplasm Hypoparathyroidism, sensorineural deafness, and renal disease 0 PE1 -NX_P23786 73777 658 8.38 1 Nucleolus;Nucleoplasm;Mitochondrion inner membrane;Mitochondrion Carnitine palmitoyltransferase 2 deficiency, infantile;Carnitine palmitoyltransferase 2 deficiency, lethal neonatal;Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced;Encephalopathy, acute, infection-induced, 4 0 PE1 -NX_P23919 23819 212 8.4 2 Mitochondrion NA 0 PE1 -NX_P23921 90070 792 6.76 11 Cytoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_P23942 39186 346 8.5 6 Membrane Retinitis pigmentosa 7;Choroidal dystrophy, central areolar 2;Macular dystrophy, vitelliform, 3;Macular dystrophy, patterned, 1;Retinitis punctata albescens 4 PE1 -NX_P23945 78265 695 6.77 2 Cell membrane Ovarian hyperstimulation syndrome;Ovarian dysgenesis 1 7 PE1 -NX_P23946 27325 247 9.44 14 Secreted;Cytoplasmic granule NA 0 PE1 -NX_P23975 69332 617 7.18 16 Cell membrane;Mitochondrion;Cytosol Orthostatic intolerance 12 PE1 -NX_P24001 26676 234 5.14 16 Secreted NA 0 PE1 -NX_P24043 343905 3122 6.01 6 Basement membrane Merosin-deficient congenital muscular dystrophy 1A 0 PE1 -NX_P24046 55883 479 8.71 6 Postsynaptic cell membrane;Cell membrane NA 4 PE2 -NX_P24071 32265 287 6.44 19 Cell membrane;Cell membrane;Secreted NA 1 PE1 -NX_P24158 27807 256 8.72 19 NA NA 0 PE1 -NX_P24278 48990 435 6.09 14 Nucleus;Nucleoplasm NA 0 PE1 -NX_P24298 54637 496 6.77 8 Cytoplasm NA 0 PE1 -NX_P24310 9118 79 10.12 19 Mitochondrion inner membrane NA 1 PE1 -NX_P24311 9161 80 10.28 X Mitochondrion inner membrane Linear skin defects with multiple congenital anomalies 2 1 PE1 -NX_P24347 54590 488 6.38 22 Extracellular matrix NA 0 PE1 -NX_P24385 33729 295 4.97 11 Nucleus;Cytoplasm;Nucleus;Cytoplasm;Membrane;Nucleoplasm Multiple myeloma 0 PE1 -NX_P24386 73476 653 4.68 X Cytosol;Cytosol;Nucleoplasm Choroideremia 0 PE1 -NX_P24387 36144 322 6.06 5 Secreted NA 0 PE1 -NX_P24390 24542 212 8.8 19 Cytoplasmic vesicle;Golgi apparatus;COPI-coated vesicle membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 7 PE1 -NX_P24394 89658 825 4.99 16 Cytosol;Secreted;Cell membrane NA 1 PE1 -NX_P24462 57526 503 9.21 7 Microsome membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_P24468 45571 414 8.66 15 Nucleus Congenital heart defects, multiple types, 4 0 PE1 -NX_P24522 18336 165 4.36 1 Nucleus;Nucleus speckle;Nucleus NA 0 PE1 -NX_P24530 49644 442 9.15 13 Cytosol;Cell membrane;Cell membrane Waardenburg syndrome 4A;ABCD syndrome;Hirschsprung disease 2 7 PE1 -NX_P24534 24764 225 4.5 2 Cytosol;Nucleolus NA 0 PE1 -NX_P24539 28909 256 9.37 1 Nucleoplasm;Mitochondrion;Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P24557 60518 533 7.56 7 Endoplasmic reticulum membrane;Cytoplasmic vesicle Ghosal hematodiaphyseal dysplasia 4 PE1 -NX_P24588 47088 427 4.87 14 Nucleoplasm;Membrane NA 0 PE1 -NX_P24592 25322 240 8.15 12 Secreted NA 0 PE1 -NX_P24593 30570 272 8.58 2 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P24666 18042 158 6.29 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P24723 77828 683 7.94 14 Cytosol;Cell membrane;Cytoplasm Ischemic stroke 0 PE1 -NX_P24752 45200 427 8.98 11 Mitochondrion;Mitochondrion 3-ketothiolase deficiency 0 PE1 -NX_P24821 240853 2201 4.79 9 Extracellular matrix Deafness, autosomal dominant, 56 0 PE1 -NX_P24844 19827 172 4.8 20 NA NA 0 PE1 -NX_P24855 31434 282 4.71 16 Endoplasmic reticulum;Cytoplasmic vesicle;Secreted;Nucleus envelope Systemic lupus erythematosus 0 PE1 -NX_P24863 33243 283 6.95 6 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_P24864 47077 410 5.7 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_P24903 55501 491 6.93 19 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P24928 217176 1970 7.02 17 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P24941 33930 298 8.8 12 Centrosome;Nucleoplasm;Centrosome;Cytosol;Cajal body;Cytoplasm;Endosome NA 0 PE1 -NX_P25021 40098 359 9.36 5 Cell membrane NA 7 PE2 -NX_P25024 39791 350 8.98 2 Cell membrane NA 7 PE1 -NX_P25025 40759 360 8.66 2 Cell membrane NA 7 PE1 -NX_P25054 311646 2843 7.92 5 Adherens junction;Cell membrane;Cytoplasm;Ruffle membrane;Lamellipodium;Cytoskeleton Familial adenomatous polyposis;Medulloblastoma;Hepatocellular carcinoma;Gastric cancer;Hereditary desmoid disease 0 PE1 -NX_P25063 8097 80 9.69 6 Cell membrane Multiple sclerosis 0 PE1 -NX_P25067 67244 703 9.05 1 Golgi apparatus;Basement membrane Corneal dystrophy, posterior polymorphous, 2;Corneal dystrophy, Fuchs endothelial, 1 0 PE1 -NX_P25089 39965 353 8.12 19 Cell membrane NA 7 PE2 -NX_P25090 38964 351 8.09 19 Cell membrane NA 7 PE1 -NX_P25092 123403 1073 6.77 12 Cytoplasmic vesicle;Cell membrane;Endoplasmic reticulum membrane Diarrhea 6;Meconium ileus 1 PE1 -NX_P25098 79574 689 6.89 11 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA 0 PE1 -NX_P25100 60463 572 9.41 20 Cell membrane NA 7 PE1 -NX_P25101 48722 427 8.73 4 Cell membrane Mandibulofacial dysostosis with alopecia 7 PE1 -NX_P25103 46251 407 6.78 2 Cell membrane NA 7 PE1 -NX_P25105 39203 342 9.2 1 Cell membrane;Cytoplasmic vesicle;Cell membrane;Nucleoplasm NA 7 PE1 -NX_P25106 41493 362 7.52 2 Cytoplasmic vesicle;Cell membrane;Cell membrane;Perinuclear region;Early endosome;Recycling endosome NA 7 PE1 -NX_P25116 47441 425 8.62 5 Cell membrane NA 7 PE1 -NX_P25189 27555 248 9.57 1 Cell membrane;Myelin membrane Adie pupil;Roussy-Levy syndrome;Charcot-Marie-Tooth disease 1B;Charcot-Marie-Tooth disease 2J;Charcot-Marie-Tooth disease 2I;Dejerine-Sottas syndrome;Charcot-Marie-Tooth disease, dominant, intermediate type, D;Neuropathy, congenital hypomyelinating or amyelinating 1 PE1 -NX_P25205 90981 808 5.53 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_P25208 22831 207 4.46 12 Nucleus;Nucleoplasm NA 0 PE1 -NX_P25311 34259 298 5.71 7 Secreted NA 0 PE1 -NX_P25325 33178 297 6.13 22 Cytoplasm;Cytosol;Mitochondrion;Mitochondrion;Synaptosome NA 0 PE1 -NX_P25391 337084 3075 5.93 18 Basement membrane Poretti-Boltshauser syndrome 0 PE1 -NX_P25398 14515 132 6.81 6 Nucleolus;Cytoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_P25440 88061 801 9.13 6 Nucleus;Nucleus speckle NA 0 PE1 -NX_P25445 37732 335 8.29 10 Cytosol;Cell membrane;Cell membrane;Secreted Autoimmune lymphoproliferative syndrome 1A 1 PE1 -NX_P25490 44713 414 5.8 14 Nucleus;Nucleoplasm;Nucleus matrix;Nucleolus;Cytoplasmic vesicle Gabriele-de Vries syndrome 0 PE1 -NX_P25685 38044 340 8.74 19 Cytoplasm;Nucleus;Nucleus;Nucleolus;Cytosol NA 0 PE1 -NX_P25686 35580 324 5.69 2 Endoplasmic reticulum membrane;Nucleus;Cytoplasm;Nucleus membrane Distal spinal muscular atrophy, autosomal recessive, 5 0 PE1 -NX_P25705 59751 553 9.16 18 Mitochondrion;Mitochondrion inner membrane;Cell membrane Combined oxidative phosphorylation deficiency 22;Mitochondrial complex V deficiency, nuclear 4 0 PE1 -NX_P25713 6927 68 4.79 16 NA NA 0 PE1 -NX_P25774 37496 331 8.61 1 Lysosome;Cytoplasmic vesicle NA 0 PE1 -NX_P25786 29556 263 6.15 11 Nucleus;Cytoplasm;Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_P25787 25899 234 6.91 7 Cytoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P25788 28433 255 5.19 14 Nucleus;Cytoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P25789 29484 261 7.58 15 Nucleus;Cytosol;Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_P25791 18358 158 6.79 11 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P25800 17828 156 8.33 11 Nucleus NA 0 PE1 -NX_P25815 10400 95 4.75 4 Nucleus;Nucleus;Cytoplasm;Microvillus membrane NA 0 PE1 -NX_P25874 33005 307 9.26 4 Mitochondrion inner membrane NA 6 PE1 -NX_P25929 44392 384 7.94 4 Nucleus;Cell membrane;Mitochondrion;Cytosol NA 7 PE1 -NX_P25940 172121 1745 6.44 19 Extracellular matrix NA 0 PE1 -NX_P25942 30619 277 5.49 20 Cell membrane;Secreted Immunodeficiency with hyper-IgM 3 1 PE1 -NX_P25963 35609 317 4.57 14 Cytoplasm;Nucleus;Cytosol Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant 0 PE1 -NX_P26006 116612 1051 6.32 17 Cell membrane;Invadopodium membrane;Filopodium membrane;Cell membrane;Cell membrane Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 1 PE1 -NX_P26010 86903 798 5.67 12 Membrane;Cell membrane;Cytosol NA 1 PE1 -NX_P26012 85632 769 7.06 7 Cell membrane;Cytosol;Membrane NA 1 PE1 -NX_P26022 41976 381 4.94 3 Secreted NA 0 PE1 -NX_P26038 67820 577 6.08 X Microvillus membrane;Cell membrane;Cell membrane;Cytoskeleton;Apical cell membrane Immunodeficiency 50 0 PE1 -NX_P26045 103990 913 6.58 9 Cell membrane;Cytoskeleton NA 0 PE1 -NX_P26196 54417 483 8.85 11 Cytosol;Cytosol;P-body;Cytoplasm;Nucleus NA 0 PE1 -NX_P26232 105313 953 5.52 2 Cell membrane;Cytoplasm;Cytoskeleton;Axon;Nucleus;Adherens junction NA 0 PE1 -NX_P26358 183165 1616 7.99 19 Nucleus;Nucleus;Nucleoplasm Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant;Neuropathy, hereditary sensory, 1E 0 PE1 -NX_P26367 46683 422 9.45 11 Nucleus;Nucleoplasm Coloboma of optic nerve;Bilateral optic nerve hypoplasia;Keratitis hereditary;Coloboma, ocular, autosomal dominant;Foveal hypoplasia 1;Aniridia 1;Anterior segment dysgenesis 5;Aniridia 2 0 PE1 -NX_P26368 53501 475 9.19 19 Nucleus;Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_P26371 16276 169 8.34 11 NA NA 0 PE1 -NX_P26373 24261 211 11.65 16 Nucleolus;Cytoplasm;Endoplasmic reticulum;Cytosol;Nucleolus NA 0 PE1 -NX_P26374 74071 656 4.84 1 Cytosol;Cytosol;Nucleoplasm NA 0 PE1 -NX_P26378 41770 380 9.45 1 NA NA 0 PE1 -NX_P26436 28156 265 4.68 11 Acrosome NA 0 PE1 -NX_P26439 42052 372 8.12 1 Endoplasmic reticulum membrane;Mitochondrion membrane Adrenal hyperplasia 2 1 PE1 -NX_P26440 46319 423 8.45 15 Nucleoplasm;Mitochondrion;Mitochondrion matrix Isovaleric acidemia 0 PE1 -NX_P26441 22931 200 6.35 11 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_P26447 11729 101 5.85 1 Cell membrane NA 0 PE1 -NX_P26572 50878 445 9.25 5 Golgi apparatus membrane NA 1 PE1 -NX_P26583 24034 209 7.62 4 Nucleus;Nucleus;Nucleolus;Chromosome;Cytoplasm;Secreted NA 0 PE1 -NX_P26599 57221 531 9.22 19 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_P26639 83435 723 6.23 5 Cytoplasm;Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_P26640 140476 1264 7.53 6 Cytosol NA 0 PE1 -NX_P26641 50119 437 6.25 11 Cytoplasm;Mitochondrion NA 0 PE1 -NX_P26651 34003 326 8.86 19 Nucleus;Cytoplasm;Cytoplasmic granule;P-body;Cytoplasmic vesicle NA 0 PE1 -NX_P26678 6109 52 9.5 6 Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane;Mitochondrion membrane;Membrane Cardiomyopathy, familial hypertrophic 18;Cardiomyopathy, dilated 1P 1 PE1 -NX_P26715 26314 233 8.53 12 Membrane NA 1 PE1 -NX_P26717 26072 231 8.69 12 Membrane NA 1 PE1 -NX_P26718 25274 216 8.56 12 Cell membrane;Cell membrane NA 1 PE1 -NX_P26842 29137 260 7.8 12 Membrane Lymphoproliferative syndrome 2 1 PE1 -NX_P26885 15649 142 9.24 11 Endoplasmic reticulum membrane;Cell membrane NA 0 PE1 -NX_P26927 80320 711 7.98 3 Secreted NA 0 PE1 -NX_P26951 43330 378 8.6 X Cell membrane;Membrane NA 1 PE1 -NX_P26992 40633 372 6.26 9 Golgi apparatus;Cell membrane NA 0 PE1 -NX_P26998 24252 211 6.25 22 NA Cataract 22, multiple types 0 PE1 -NX_P27037 57848 513 5.61 2 Cytosol;Membrane NA 1 PE1 -NX_P27105 31731 288 7.71 9 Cell membrane;Cytoskeleton;Cell membrane;Cytoplasmic vesicle;Melanosome;Cytosol;Membrane raft NA 0 PE1 -NX_P27144 25268 223 8.47 1 Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_P27169 39731 355 5.08 7 Extracellular space Microvascular complications of diabetes 5 0 PE1 -NX_P27216 35415 316 5.47 8 Cell membrane;Cell membrane NA 0 PE1 -NX_P27338 58763 520 7.2 X Mitochondrion;Nucleolus;Mitochondrion outer membrane NA 1 PE1 -NX_P27348 27764 245 4.68 2 Cytoplasm;Cytosol;Nucleoplasm NA 0 PE1 -NX_P27352 45416 417 5.8 11 Secreted Hereditary intrinsic factor deficiency 0 PE1 -NX_P27361 43136 379 6.28 16 Nucleoplasm;Nucleus;Caveola;Cytoplasm NA 0 PE1 -NX_P27448 84489 753 9.59 14 Cell membrane;Nucleus membrane NA 0 PE1 -NX_P27449 15736 155 7.98 16 Cytosol;Vacuole membrane NA 4 PE1 -NX_P27469 11321 103 9.73 1 Mitochondrion NA 0 PE1 -NX_P27482 16891 149 4.3 10 NA NA 0 PE1 -NX_P27487 88279 766 5.67 2 Invadopodium membrane;Lamellipodium membrane;Cell junction;Membrane raft;Secreted;Cell membrane;Apical cell membrane NA 1 PE1 -NX_P27539 39475 372 9.51 19 Secreted Tetralogy of Fallot;Right atrial isomerism;Conotruncal heart malformations;Transposition of the great arteries dextro-looped 3 0 PE1 -NX_P27540 86636 789 6.11 1 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_P27544 39536 350 9.17 19 Endoplasmic reticulum;Golgi apparatus membrane;Endoplasmic reticulum membrane Epilepsy, progressive myoclonic 8 6 PE1 -NX_P27635 24604 214 10.11 X Nucleus Mental retardation, X-linked, syndromic, 35;Autism, X-linked 5 0 PE1 -NX_P27658 73364 744 9.62 3 Cytoplasmic vesicle;Basement membrane NA 0 PE1 -NX_P27694 68138 616 6.92 17 PML body;Nucleus;Nucleoplasm NA 0 PE1 -NX_P27695 35555 318 8.33 14 Mitochondrion;Nucleus;Nucleolus;Nucleus speckle;Endoplasmic reticulum;Cytoplasm;Nucleus NA 0 PE1 -NX_P27701 29626 267 5.14 11 Membrane;Cytoplasmic vesicle NA 4 PE1 -NX_P27707 30519 260 5.14 4 Nucleus;Nucleus NA 0 PE1 -NX_P27708 242984 2225 6.02 2 Nucleoplasm;Nucleus;Cytoplasm Epileptic encephalopathy, early infantile, 50 0 PE1 -NX_P27797 48142 417 4.29 19 Extracellular matrix;Endoplasmic reticulum lumen;Cytosol;Cell surface;Sarcoplasmic reticulum lumen NA 0 PE1 -NX_P27815 98143 886 5.09 19 Perinuclear region;Membrane;Cytoplasm;Membrane;Ruffle membrane;Cell membrane NA 0 PE1 -NX_P27816 121005 1152 5.32 3 Cytoskeleton;Cytosol;Cytoskeleton;Cell membrane;Cytoskeleton NA 0 PE1 -NX_P27824 67568 592 4.47 5 Endoplasmic reticulum;Endoplasmic reticulum membrane;Endoplasmic reticulum;Melanosome NA 1 PE1 -NX_P27918 51276 469 8.32 X Secreted Properdin deficiency 0 PE1 -NX_P27930 45421 398 8.03 2 Secreted;Cell membrane NA 1 PE1 -NX_P27986 83598 724 5.84 5 Cytosol Immunodeficiency 36;Agammaglobulinemia 7, autosomal recessive;SHORT syndrome 0 PE1 -NX_P27987 102376 946 8.7 1 Nucleus NA 0 PE1 -NX_P28039 65105 575 8.45 7 Nucleus;Cytoplasm;Lysosome;Secreted NA 0 PE1 -NX_P28062 30354 276 7.04 6 Cytoskeleton;Cytoplasmic vesicle;Nucleus;Cytoplasm Nakajo syndrome 0 PE1 -NX_P28065 23264 219 4.93 6 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P28066 26411 241 4.74 1 Nucleus;Cytoplasm NA 0 PE1 -NX_P28067 29194 261 4.51 6 Late endosome membrane;Lysosome membrane;Cytoplasmic vesicle NA 1 PE1 -NX_P28068 28943 263 7.09 6 Late endosome membrane;Lysosome membrane NA 1 PE1 -NX_P28069 32912 291 8.36 3 Nucleus Pituitary hormone deficiency, combined, 1 0 PE1 -NX_P28070 29204 264 5.72 1 Cytoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P28072 25358 239 4.8 17 Nucleus;Cytoplasm;Cytosol;Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_P28074 28480 263 6.44 14 Nucleus;Centrosome;Cytoplasm;Nucleus NA 0 PE1 -NX_P28161 25745 218 5.99 1 Cytosol;Cytoplasmic vesicle;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P28221 41907 377 9.03 1 Cell membrane NA 7 PE1 -NX_P28222 43568 390 8.96 6 Cell membrane;Cell membrane NA 7 PE1 -NX_P28223 52603 471 7.83 13 Caveola;Cell membrane;Dendrite;Axon;Cytoplasmic vesicle NA 7 PE1 -NX_P28288 75476 659 9.41 1 Peroxisome;Peroxisome membrane Congenital bile acid synthesis defect 5 4 PE1 -NX_P28289 40569 359 5.03 9 Cytoskeleton;Cytosol NA 0 PE1 -NX_P28290 138386 1259 5.11 2 Nucleus;Cytoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_P28300 46944 417 8.36 5 Endoplasmic reticulum;Extracellular space;Secreted Aortic aneurysm, familial thoracic 10 0 PE1 -NX_P28324 46900 431 7.68 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_P28325 16080 142 6.71 20 Secreted NA 0 PE1 -NX_P28328 34843 305 8.98 8 Peroxisome membrane;Cytoplasmic vesicle Peroxisome biogenesis disorder complementation group 5;Peroxisome biogenesis disorder 5A;Peroxisome biogenesis disorder 5B 2 PE1 -NX_P28329 82536 748 8.9 10 NA Myasthenic syndrome, congenital, 6, presynaptic 0 PE1 -NX_P28330 47656 430 7.68 2 Mitochondrion matrix Acyl-CoA dehydrogenase very long-chain deficiency 0 PE1 -NX_P28331 79468 727 5.89 2 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency 0 PE1 -NX_P28332 39089 368 8.05 4 Cytoplasm NA 0 PE1 -NX_P28335 51821 458 9.13 X Cell membrane NA 7 PE1 -NX_P28336 43435 390 8.93 6 Cell membrane;Cytosol;Cell membrane NA 7 PE1 -NX_P28340 123631 1107 6.64 19 Nucleoplasm;Nucleus Colorectal cancer 10;Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 0 PE1 -NX_P28347 47946 426 8.33 11 Nucleus;Cytosol;Nucleus Sveinsson chorioretinal atrophy 0 PE1 -NX_P28356 36495 352 9.36 2 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_P28358 38411 340 8.62 2 Cytosol;Nucleoplasm;Cytosol;Nucleus Vertical talus, congenital 0 PE1 -NX_P28360 31496 303 9.89 4 Nucleoplasm;Nucleus Non-syndromic orofacial cleft 5;Tooth agenesis, selective, 1;Ectodermal dysplasia 3, Witkop type 0 PE1 -NX_P28370 122605 1054 8.27 X Nucleus;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_P28472 54116 473 9.21 15 Postsynaptic cell membrane;Cell membrane;Cytoplasmic vesicle membrane Epileptic encephalopathy, early infantile, 43;Epilepsy, childhood absence 5 4 PE1 -NX_P28476 54151 465 9.27 6 Postsynaptic cell membrane;Cell membrane NA 4 PE2 -NX_P28482 41390 360 6.5 22 Cytoplasm;Nucleus;Spindle;Caveola;Nucleus;Centrosome;Cytoplasm NA 0 PE1 -NX_P28562 39298 367 6.78 5 Nucleolus;Cytosol;Nucleus NA 0 PE1 -NX_P28566 41682 365 9.09 6 Cell membrane NA 7 PE1 -NX_P28676 24010 217 5.02 2 Cytosol;Cell membrane;Cytoplasmic granule membrane;Cytoplasm NA 0 PE1 -NX_P28698 82055 734 8.59 19 Nucleus;Nucleus NA 0 PE1 -NX_P28702 56922 533 8.52 6 Nucleus;Nucleus NA 0 PE1 -NX_P28715 133108 1186 5.13 13 Nucleoplasm;Nucleus Cerebro-oculo-facio-skeletal syndrome 3;Xeroderma pigmentosum complementation group G 0 PE1 -NX_P28749 120847 1068 7.32 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_P28799 63544 593 6.43 17 Endoplasmic reticulum;Endosome;Lysosome;Secreted Ceroid lipofuscinosis, neuronal, 11;Ubiquitin-positive frontotemporal dementia 0 PE1 -NX_P28827 163682 1452 6.21 18 Membrane;Cell membrane NA 1 PE1 -NX_P28838 56166 519 8.03 4 Cytosol;Nucleoplasm;Midbody;Cytoplasm;Cytoplasm NA 0 PE1 -NX_P28845 32401 292 8.71 1 Endoplasmic reticulum membrane Cortisone reductase deficiency 1 PE1 -NX_P28906 40716 385 7 1 Membrane;Cell membrane;Cell junction;Nucleus NA 1 PE1 -NX_P28907 34328 300 7.85 4 Cell membrane;Membrane NA 1 PE1 -NX_P28908 63747 595 5.44 1 Cell membrane;Cytoplasm NA 1 PE1 -NX_P29016 36939 333 5.89 1 Cell membrane;Endosome membrane;Lysosome membrane NA 1 PE1 -NX_P29017 37654 333 5.7 1 Cell membrane;Endosome membrane;Lysosome NA 1 PE1 -NX_P29033 26215 226 9.11 13 Mitochondrion;Cell membrane;Gap junction Vohwinkel syndrome;Deafness, autosomal dominant, 3A;Keratitis-ichthyosis-deafness syndrome;Deafness, autosomal recessive, 1A;Ichthyosis hystrix-like with deafness syndrome;Keratoderma, palmoplantar, with deafness;Bart-Pumphrey syndrome 4 PE1 -NX_P29034 11117 98 4.68 1 Cytoplasm;Cell membrane;Nucleus;Cytosol;Nucleolus NA 0 PE1 -NX_P29074 105911 926 7.15 2 Cell membrane;Cytosol;Nucleus;Cell membrane;Cytoskeleton NA 0 PE1 -NX_P29083 49452 439 4.74 3 Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_P29084 33044 291 9.66 8 Nucleoplasm;Cytosol;Nucleus Trichothiodystrophy 6, non-photosensitive 0 PE1 -NX_P29120 84152 753 5.66 5 Secretory vesicle Proprotein convertase 1 deficiency 0 PE1 -NX_P29122 106420 969 7.96 15 Secreted;Endomembrane system;Endoplasmic reticulum NA 0 PE1 -NX_P29144 138350 1249 5.9 13 Nucleus;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_P29218 30189 277 5.16 8 Cytoplasm;Nucleoplasm;Mitochondrion Mental retardation, autosomal recessive 59 0 PE1 -NX_P29274 44707 412 8.34 22 Cell membrane NA 7 PE1 -NX_P29275 36333 332 8.62 17 Cell membrane;Cytosol NA 7 PE2 -NX_P29279 38091 349 8.43 6 Secreted;Extracellular matrix;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_P29317 108266 976 5.86 1 Cytoplasmic vesicle;Cell membrane;Ruffle membrane;Lamellipodium membrane;Focal adhesion Cataract 6, multiple types 1 PE1 -NX_P29320 110131 983 6.33 3 Cytosol;Cell membrane;Golgi apparatus;Secreted;Nucleoplasm Colorectal cancer 1 PE1 -NX_P29322 111003 1005 8.42 1 Cell membrane;Cell projection;Early endosome membrane NA 1 PE1 -NX_P29323 117493 1055 6.14 1 Nucleus;Cell membrane;Axon;Cell membrane;Dendrite Prostate cancer 1 PE1 -NX_P29350 67561 595 7.65 12 Nucleolus;Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_P29353 62822 583 6.01 1 Mitochondrion matrix;Cytosol;Cytoplasm;Mitochondrion NA 0 PE1 -NX_P29371 52202 465 9.42 4 Cell membrane Hypogonadotropic hypogonadism 11 with or without anosmia 7 PE1 -NX_P29372 32869 298 9.65 16 Nucleoplasm;Cytoplasm;Cytosol;Mitochondrion nucleoid;Nucleus NA 0 PE1 -NX_P29373 15693 138 5.42 1 Cytosol;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Nucleus NA 0 PE1 -NX_P29374 142752 1257 5.02 14 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_P29375 192095 1690 6.12 12 Cytosol;Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_P29376 91681 864 6.07 15 Membrane;Cytoplasmic vesicle NA 1 PE1 -NX_P29377 9016 79 4.69 X NA NA 0 PE1 -NX_P29400 161044 1685 7.71 X Lipid droplet;Basement membrane Alport syndrome, X-linked 0 PE1 -NX_P29401 67878 623 7.58 3 Nucleoplasm Short stature, developmental delay, and congenital heart defects 0 PE1 -NX_P29459 24874 219 6.21 3 Secreted NA 0 PE1 -NX_P29460 37169 328 5.52 5 Secreted Psoriasis 11;Immunodeficiency 29 0 PE1 -NX_P29466 45159 404 5.63 11 Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_P29474 133289 1203 6.94 7 Cell membrane;Caveola;Cytoskeleton;Golgi apparatus NA 0 PE1 -NX_P29475 160970 1434 7.1 12 Nucleoplasm;Sarcolemma;Dendritic spine;Cell membrane NA 0 PE1 -NX_P29508 44565 390 6.35 18 Cytoplasm;Cell membrane;Cytosol NA 0 PE1 -NX_P29536 67030 600 9.35 1 Cytosol;Cytoskeleton;Sarcomere NA 0 PE1 -NX_P29558 44505 406 8.91 2 Cytosol;Nucleus NA 0 PE1 -NX_P29590 97551 882 5.88 15 Nucleus;Nucleus;Nucleoplasm;Cytoplasm;PML body;Nucleolus;Endoplasmic reticulum membrane;Early endosome membrane NA 0 PE1 -NX_P29597 133650 1187 6.71 19 Cytosol Immunodeficiency 35 0 PE1 -NX_P29622 48542 427 7.34 14 Secreted NA 0 PE1 -NX_P29692 31122 281 4.9 8 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_P29728 82431 719 8.55 12 Cytosol;Nucleoplasm;Microsome;Endoplasmic reticulum;Cytoplasm;Perinuclear region;Mitochondrion;Nucleus NA 0 PE1 -NX_P29762 15566 137 5.3 15 Cytoplasm NA 0 PE1 -NX_P29803 42933 388 8.76 4 Mitochondrion matrix NA 0 PE1 -NX_P29965 29274 261 8.53 X Cell surface;Secreted;Cell membrane X-linked immunodeficiency with hyper-IgM 1 1 PE1 -NX_P29966 31555 332 4.47 6 Membrane;Nucleolus;Cell membrane;Cytosol;Cytoskeleton NA 0 PE1 -NX_P29972 28526 269 6.95 7 Cell membrane;Cell membrane NA 6 PE1 -NX_P29973 79586 690 7.85 4 Cytoplasmic vesicle;Cell membrane;Membrane Retinitis pigmentosa 49 6 PE1 -NX_P29992 42123 359 5.51 19 Cell membrane;Cytoplasm Hypocalciuric hypercalcemia, familial 2;Hypocalcemia, autosomal dominant 2 0 PE1 -NX_P30038 61719 563 8.25 1 Mitochondrion matrix Hyperprolinemia 2 0 PE1 -NX_P30039 31785 288 6.06 10 Cytoplasmic vesicle NA 0 PE1 -NX_P30040 28993 261 6.77 12 Endoplasmic reticulum;Cytoskeleton;Melanosome;Nucleoplasm;Endoplasmic reticulum lumen NA 0 PE1 -NX_P30041 25035 224 6 1 Cytosol;Lysosome;Cytoplasm;Cell membrane NA 0 PE1 -NX_P30042 28170 268 8.5 21 Mitochondrion NA 0 PE1 -NX_P30043 22119 206 7.13 19 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_P30044 22086 214 8.93 11 Cytoplasm;Cytosol;Peroxisome matrix;Mitochondrion;Cytoplasm;Mitochondrion NA 0 PE1 -NX_P30046 12712 118 6.72 22 Cytoplasm;Mitochondrion;Cytoplasm NA 0 PE1 -NX_P30047 9698 84 6.08 15 Cytoplasm;Nucleoplasm;Cytosol;Nucleus membrane;Nucleus NA 0 PE1 -NX_P30048 27693 256 7.68 10 Mitochondrion;Cytoplasm NA 0 PE1 -NX_P30049 17490 168 5.38 19 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P30050 17819 165 9.48 9 NA NA 0 PE1 -NX_P30084 31387 290 8.34 10 Mitochondrion;Mitochondrion matrix Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 0 PE1 -NX_P30085 22222 196 5.44 1 Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_P30086 21057 187 7.01 12 Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_P30101 56782 505 5.98 15 Endoplasmic reticulum;Endoplasmic reticulum lumen;Endoplasmic reticulum;Melanosome NA 0 PE1 -NX_P30153 65309 589 5 19 Cytosol;Dendrite;Lateral cell membrane;Cytoplasm;Centromere Mental retardation, autosomal dominant 36 0 PE1 -NX_P30154 66214 601 4.84 11 Nucleus;Centrosome;Cell membrane;Cytosol NA 0 PE1 -NX_P30203 71801 668 4.82 11 Cell membrane;Secreted NA 1 PE1 -NX_P30260 91867 824 6.59 17 Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_P30273 9667 86 6.54 1 Cell membrane NA 1 PE1 -NX_P30279 33067 289 5.06 12 Nucleus;Cytoplasm;Membrane;Nucleoplasm Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 0 PE1 -NX_P30281 32520 292 6.66 6 Cytosol;Cell membrane;Focal adhesion;Membrane;Cytoplasm;Nucleus NA 0 PE1 -NX_P30291 71597 646 6.33 11 Nucleolus;Nucleus NA 0 PE1 -NX_P30301 28122 263 8.62 12 Gap junction;Cell membrane Cataract 15, multiple types 6 PE1 -NX_P30304 59087 524 6.49 3 Nucleus;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_P30305 64987 580 6 20 Spindle pole;Centrosome;Cytosol;Nucleoplasm NA 0 PE1 -NX_P30307 53365 473 6.34 5 Nucleus speckle;Nucleus NA 0 PE1 -NX_P30405 22040 207 9.49 10 Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_P30408 21632 202 4.88 3 Cell membrane;Membrane NA 4 PE1 -NX_P30411 44461 391 8.5 14 Cell membrane NA 7 PE1 -NX_P30414 165677 1462 10.01 3 Nucleoplasm;Cell membrane;Cytosol;Membrane NA 0 PE1 -NX_P30419 56806 496 7.65 17 Cytoplasm;Cell membrane;Cytosol;Cytoplasm;Cytosol;Membrane NA 0 PE1 -NX_P30443 40846 365 6.09 6 Membrane NA 1 PE1 -NX_P30447 40733 365 5.91 6 Membrane NA 1 PE1 -NX_P30450 41062 365 6.08 6 Membrane NA 1 PE1 -NX_P30453 41055 365 5.89 6 Membrane NA 1 PE1 -NX_P30455 40934 365 5.96 6 Membrane NA 1 PE1 -NX_P30456 41033 365 5.96 6 Membrane NA 1 PE1 -NX_P30457 41082 365 5.89 6 Membrane NA 1 PE1 -NX_P30459 40891 365 6.02 6 Membrane NA 1 PE1 -NX_P30460 40331 362 5.46 6 Membrane NA 1 PE1 -NX_P30461 40474 362 5.77 6 Membrane NA 1 PE1 -NX_P30462 40358 362 5.56 6 Membrane NA 1 PE1 -NX_P30464 40388 362 5.9 6 Membrane Stevens-Johnson syndrome 1 PE1 -NX_P30466 40275 362 6.27 6 Membrane NA 1 PE1 -NX_P30475 40328 362 5.77 6 Membrane NA 1 PE1 -NX_P30479 40539 362 6.09 6 Membrane NA 1 PE1 -NX_P30480 40333 362 5.56 6 Membrane NA 1 PE1 -NX_P30481 40481 362 5.7 6 Membrane NA 1 PE1 -NX_P30483 40414 362 6.03 6 Membrane NA 1 PE1 -NX_P30484 40440 362 6.17 6 Membrane NA 1 PE1 -NX_P30485 40571 362 5.78 6 Membrane NA 1 PE1 -NX_P30486 40362 362 5.67 6 Membrane NA 1 PE1 -NX_P30487 40581 362 6.03 6 Membrane NA 1 PE1 -NX_P30488 40541 362 6.03 6 Membrane NA 1 PE1 -NX_P30490 40521 362 5.85 6 Membrane NA 1 PE1 -NX_P30491 40495 362 6.02 6 Membrane NA 1 PE1 -NX_P30492 40380 362 5.89 6 Membrane NA 1 PE1 -NX_P30493 40496 362 5.66 6 Membrane NA 1 PE1 -NX_P30495 40478 362 5.77 6 Membrane NA 1 PE1 -NX_P30498 40478 362 5.84 6 Membrane NA 1 PE1 -NX_P30499 40965 366 5.49 6 Membrane NA 1 PE1 -NX_P30501 41095 366 5.76 6 Membrane NA 1 PE1 -NX_P30504 40995 366 6.04 6 Membrane NA 1 PE1 -NX_P30505 40773 366 6.52 6 Membrane NA 1 PE1 -NX_P30508 40886 366 5.91 6 Membrane NA 1 PE1 -NX_P30510 40838 366 5.79 6 Membrane NA 1 PE1 -NX_P30511 39062 346 5.37 6 Membrane NA 1 PE1 -NX_P30512 40863 365 6.52 6 Membrane NA 1 PE1 -NX_P30518 40279 371 9.49 X Cell membrane Nephrogenic syndrome of inappropriate antidiuresis;Diabetes insipidus, nephrogenic, X-linked 7 PE1 -NX_P30519 36033 316 5.31 16 Endoplasmic reticulum;Microsome;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_P30520 50097 456 6.13 1 Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_P30530 98336 894 5.27 19 Cell membrane;Cytoskeleton NA 1 PE1 -NX_P30531 67074 599 8.39 3 Mitochondrion;Cell membrane;Membrane Myoclonic-atonic epilepsy 12 PE1 -NX_P30532 53054 468 6.52 15 Cell membrane;Focal adhesion;Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_P30533 41466 357 8.73 4 Rough endoplasmic reticulum lumen;Endoplasmic reticulum;Endoplasmic reticulum-Golgi intermediate compartment lumen;cis-Golgi network;Golgi apparatus lumen;Endosome lumen;Cell surface Myopia 23, autosomal recessive 0 PE1 -NX_P30536 18828 169 9.43 22 Mitochondrion membrane;Cytoplasmic vesicle;Mitochondrion;Cytosol NA 5 PE1 -NX_P30542 36512 326 8.9 1 Cell membrane;Cell membrane NA 7 PE1 -NX_P30550 43199 384 8.78 X Cell membrane;Cell membrane NA 7 PE1 -NX_P30556 41061 359 9.44 3 Cytoplasmic vesicle;Cell membrane Renal tubular dysgenesis 7 PE1 -NX_P30559 42772 389 9.63 3 Cell membrane NA 7 PE1 -NX_P30566 54889 484 6.68 22 Cytosol Adenylosuccinase deficiency 0 PE1 -NX_P30613 61830 574 7.65 1 Cytosol Pyruvate kinase hyperactivity;Pyruvate kinase deficiency of red cells 0 PE1 -NX_P30622 162246 1438 5.29 12 Cytoplasm;Cytoskeleton;Cytosol;Cytoskeleton;Cytoplasmic vesicle membrane;Ruffle NA 0 PE1 -NX_P30626 21676 198 5.32 7 Cytosol;Nucleoplasm;Cytoplasm;Sarcoplasmic reticulum membrane NA 0 PE1 -NX_P30679 43568 374 8.74 19 NA NA 0 PE1 -NX_P30685 40455 362 6.02 6 Membrane NA 1 PE1 -NX_P30711 27335 240 7.01 22 Cytoplasm NA 0 PE1 -NX_P30740 42742 379 5.9 6 Cytoplasm;Cytoplasmic granule NA 0 PE1 -NX_P30793 27903 250 8.73 14 Nucleus membrane;Nucleoplasm;Cytosol;Cytoplasm;Nucleus Dystonia, dopa-responsive;Hyperphenylalaninemia, BH4-deficient, B 0 PE1 -NX_P30825 67638 629 5.29 13 Membrane NA 14 PE1 -NX_P30837 57206 517 6.36 9 Nucleoplasm;Cytoplasmic vesicle;Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_P30838 50395 453 6.11 17 Cell membrane;Cytosol;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_P30872 42686 391 8.68 14 Cell membrane NA 7 PE1 -NX_P30874 41333 369 9.15 17 Cytosol;Cytoplasm;Cell membrane NA 7 PE1 -NX_P30876 133897 1174 6.44 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_P30926 56380 498 8.64 15 Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_P30939 41709 366 9.09 3 Cell membrane NA 7 PE2 -NX_P30953 35264 314 7.98 17 Cell membrane NA 7 PE3 -NX_P30954 35925 320 9.29 1 Cell membrane NA 7 PE2 -NX_P30968 37731 328 9.56 4 Cell membrane Hypogonadotropic hypogonadism 7 with or without anosmia 7 PE1 -NX_P30988 59352 508 8.98 7 Cell membrane NA 7 PE1 -NX_P30989 46259 418 9.46 20 Cell membrane;Cell membrane;Membrane raft NA 7 PE1 -NX_P30990 19795 170 6.59 12 Secreted;Secretory vesicle NA 0 PE1 -NX_P31025 19250 176 5.39 9 Secreted NA 0 PE1 -NX_P31040 72692 664 7.06 5 Mitochondrion;Mitochondrion inner membrane Paragangliomas 5;Cardiomyopathy, dilated 1GG;Leigh syndrome;Mitochondrial complex II deficiency 0 PE1 -NX_P31146 51026 461 6.25 16 Cytoskeleton;Cytosol;Cell cortex;Phagosome membrane Immunodeficiency 8 0 PE1 -NX_P31150 50583 447 5 X Cytoplasm;Cytoplasmic vesicle;trans-Golgi network;Cytoplasm Mental retardation, X-linked 41 0 PE1 -NX_P31151 11471 101 6.27 1 Cytoplasm;Secreted NA 0 PE1 -NX_P31152 65922 587 5.25 18 Cytoplasm;Nucleus NA 0 PE1 -NX_P31153 43661 395 6.02 2 Cytosol;Nucleoplasm NA 0 PE1 -NX_P31213 28393 254 9.47 2 Microsome membrane;Endoplasmic reticulum membrane Pseudovaginal perineoscrotal hypospadias 4 PE1 -NX_P31249 45730 432 8.98 2 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_P31260 42414 410 8.63 7 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_P31267 26339 233 9.18 7 Nucleus NA 0 PE2 -NX_P31268 25355 230 5.26 7 Nucleus membrane;Nucleoplasm;Nucleus NA 0 PE1 -NX_P31269 30172 272 8.8 7 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_P31270 34486 313 8.91 7 Nucleoplasm;Nucleus Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 0 PE1 -NX_P31271 39727 388 9.24 7 Cytoskeleton;Nucleoplasm;Nucleus Guttmacher syndrome;Hand-foot-genital syndrome 0 PE1 -NX_P31273 27755 242 6.56 12 Nucleus;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_P31274 29248 260 9.14 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_P31275 30171 282 8.93 12 Nucleus NA 0 PE1 -NX_P31276 35379 330 9.11 12 Nucleus Ectodermal dysplasia 9, hair/nail type 0 PE1 -NX_P31277 35197 338 9.02 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_P31314 34365 330 9.53 10 Nucleus NA 0 PE1 -NX_P31321 43073 381 5.53 7 Cell membrane NA 0 PE1 -NX_P31323 46302 418 4.82 7 Cytosol;Centrosome;Mitochondrion;Golgi apparatus;Cytoplasm;Cell membrane NA 0 PE1 -NX_P31327 164939 1500 6.3 2 Mitochondrion;Nucleolus;Nucleolus Carbamoyl phosphate synthetase 1 deficiency;Pulmonary hypertension, neonatal 0 PE1 -NX_P31350 44878 389 5.28 2 Cytosol;Cytoplasm NA 0 PE1 -NX_P31358 6614 61 8 1 Cell membrane NA 0 PE1 -NX_P31371 23441 208 7.06 13 Secreted Multiple synostoses syndrome 3 0 PE1 -NX_P31391 42003 388 9.09 20 Cell membrane NA 7 PE2 -NX_P31415 45160 396 4.03 1 Mitochondrion;Nucleoplasm;Sarcoplasmic reticulum;Sarcoplasmic reticulum lumen;Sarcoplasmic reticulum membrane;Mitochondrion matrix Myopathy, vacuolar, with CASQ1 aggregates 0 PE1 -NX_P31431 21642 198 4.39 20 Cell membrane;Golgi apparatus;Membrane;Secreted NA 1 PE1 -NX_P31483 42963 386 7.62 2 Nucleoplasm;Cytosol;Cytoplasmic granule;Nucleus Welander distal myopathy 0 PE1 -NX_P31512 63343 558 8.74 1 Microsome membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_P31513 60033 532 7.9 1 Microsome membrane;Endoplasmic reticulum membrane Trimethylaminuria 0 PE1 -NX_P31629 269053 2446 6.5 6 Nucleoplasm;Nucleus Mental retardation, autosomal dominant 43 0 PE1 -NX_P31639 72897 672 7.45 16 Membrane Renal glucosuria 11 PE1 -NX_P31641 69830 620 7.37 3 Cell junction;Cytosol;Cell membrane NA 12 PE1 -NX_P31644 52146 462 9.22 15 Cell junction;Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_P31645 70325 630 5.89 17 Cytoplasmic vesicle;Golgi apparatus;Endosome membrane;Cell membrane;Endomembrane system NA 12 PE1 -NX_P31689 44868 397 6.65 9 Cell membrane;Cytoplasm;Cytosol;Membrane;Cytoskeleton;Cytoplasm;Microsome;Nucleus;Perinuclear region;Mitochondrion NA 0 PE1 -NX_P31749 55686 480 5.75 14 Cytoplasm;Nucleus;Cell membrane;Nucleus;Cytoskeleton Proteus syndrome;Cowden syndrome 6;Breast cancer;Colorectal cancer 0 PE1 -NX_P31751 55769 481 5.98 19 Cytoplasmic vesicle;Cytosol;Early endosome;Cytoplasm;Nucleus;Cell membrane;Nucleus Diabetes mellitus, non-insulin-dependent;Hypoinsulinemic hypoglycemia with hemihypertrophy 0 PE1 -NX_P31785 42287 369 5.9 X Cytoplasmic vesicle;Membrane Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative;X-linked combined immunodeficiency 1 PE1 -NX_P31930 52646 480 5.94 3 Cytosol;Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P31937 35329 336 8.38 7 Mitochondrion NA 0 PE1 -NX_P31939 64616 592 6.27 2 Cell membrane;Cytosol AICAR transformylase/IMP cyclohydrolase deficiency 0 PE1 -NX_P31941 23012 199 6.34 22 Nucleus;Cytoplasm NA 0 PE1 -NX_P31942 36926 346 6.37 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_P31943 49229 449 5.89 5 Nucleoplasm NA 0 PE1 -NX_P31944 27680 242 5.44 19 Cytosol;Nucleus;Cytoplasm Ichthyosis, congenital, autosomal recessive 12 0 PE1 -NX_P31946 28082 246 4.76 20 Cytosol;Cytoplasm;Melanosome NA 0 PE1 -NX_P31947 27774 248 4.68 1 Cytosol;Secreted;Nucleus;Cytoplasm NA 0 PE1 -NX_P31948 62639 543 6.4 11 Cytoplasm;Nucleus;Cytosol;Cell membrane;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P31949 11740 105 6.56 1 Nucleus;Cytoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P31994 34044 310 5.74 1 Cell membrane Systemic lupus erythematosus 1 PE1 -NX_P31995 35578 323 6.4 1 Cytoplasm;Cell membrane NA 1 PE1 -NX_P31997 38154 349 6.95 19 Cell membrane NA 0 PE1 -NX_P32004 140003 1257 5.84 X Axon;Cell membrane;Growth cone;Cell membrane;Dendrite;Nucleoplasm Hydrocephalus due to stenosis of the aqueduct of Sylvius;Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome;Agenesis of the corpus callosum, X-linked, partial 1 PE1 -NX_P32019 112852 993 5.37 1 Endoplasmic reticulum-Golgi intermediate compartment;Early endosome membrane;Cytosol;Cytosol;Phagosome membrane;Membrane;Golgi apparatus NA 0 PE1 -NX_P32119 21892 198 5.66 19 Cytoplasm NA 0 PE1 -NX_P32121 46106 409 7.59 17 Cytoplasmic vesicle;Cytoplasmic vesicle;Cell membrane;Nucleus;Cytoplasm;Clathrin-coated pit NA 0 PE1 -NX_P32189 61245 559 6.12 X Mitochondrion outer membrane;Cytoplasm Glycerol kinase deficiency 0 PE1 -NX_P32238 47841 428 9.37 4 Cell membrane NA 7 PE1 -NX_P32239 48419 447 10.03 11 Cell membrane NA 7 PE1 -NX_P32241 51547 457 8.52 3 Cell membrane NA 7 PE1 -NX_P32242 37327 354 9.41 2 Nucleus speckle;Cytosol;Nucleus NA 0 PE1 -NX_P32243 31636 289 9.4 14 Nucleus Pituitary hormone deficiency, combined, 6;Microphthalmia, syndromic, 5;Retinal dystrophy, early-onset, with or without pituitary dysfunction 0 PE1 -NX_P32245 36943 332 7.88 18 Cell membrane Obesity 7 PE1 -NX_P32246 41173 355 8.38 3 Cell membrane NA 7 PE1 -NX_P32247 44411 399 8.99 X Cell membrane NA 7 PE1 -NX_P32248 42874 378 8.82 17 Mitochondrion;Cell membrane NA 7 PE1 -NX_P32249 41224 361 9.31 13 Cell membrane;Nucleus membrane;Cytoplasmic vesicle NA 7 PE1 -NX_P32297 57480 505 6.05 15 Cell membrane;Postsynaptic cell membrane NA 4 PE1 -NX_P32298 66583 578 7.93 4 Cell cortex;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_P32302 41955 372 8.52 11 Cell membrane NA 7 PE1 -NX_P32314 47161 431 5.98 2 Nucleus;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_P32320 16185 146 6.55 1 Nucleoplasm NA 0 PE1 -NX_P32321 20016 178 7.5 4 Cytosol;Nucleoplasm NA 0 PE1 -NX_P32322 33361 319 7.18 17 Mitochondrion Cutis laxa, autosomal recessive, 3B;Cutis laxa, autosomal recessive, 2B 0 PE1 -NX_P32418 108547 973 4.91 2 Nucleoplasm;Cell membrane;Cell membrane NA 10 PE1 -NX_P32455 67931 592 5.97 1 Secreted;Cell membrane;Golgi apparatus membrane;Cytoplasm NA 0 PE1 -NX_P32456 67209 591 5.54 1 Nucleoplasm;Cytosol;Cytoskeleton;Cytoplasm;Perinuclear region;Golgi apparatus membrane;Membrane NA 0 PE1 -NX_P32519 67498 619 5.09 13 Nucleoplasm;Nucleus NA 0 PE1 -NX_P32745 45847 418 8.91 22 Cell membrane NA 7 PE1 -NX_P32754 44934 393 6.52 12 Nucleus speckle Hawkinsinuria;Tyrosinemia 3 0 PE1 -NX_P32780 62032 548 8.8 11 Nucleus;Nucleoplasm NA 0 PE1 -NX_P32856 33341 288 5.92 12 Cytosol;Nucleus;Membrane NA 1 PE1 -NX_P32881 21989 189 5.32 9 Secreted NA 0 PE1 -NX_P32926 107533 999 4.86 18 Cell membrane;Desmosome NA 1 PE1 -NX_P32927 97336 897 5.33 22 Membrane;Golgi apparatus Pulmonary surfactant metabolism dysfunction 5 1 PE1 -NX_P32929 44508 405 6.21 1 Cytoplasm Cystathioninuria 0 PE1 -NX_P32942 59541 547 5.31 19 Mitochondrion;Nucleus;Membrane;Nucleus membrane NA 1 PE1 -NX_P32969 21863 192 9.96 X Cytoplasm;Cytosol;Nucleolus;Endoplasmic reticulum;Nucleolus NA 0 PE1 -NX_P32970 21118 193 8.93 19 Nucleoplasm;Membrane NA 1 PE1 -NX_P32971 26017 234 7.62 9 Membrane NA 1 PE1 -NX_P33032 36601 325 8.75 18 Cell membrane NA 7 PE1 -NX_P33076 123514 1130 5.3 16 Nucleus;PML body;Nucleoplasm Bare lymphocyte syndrome 2 0 PE1 -NX_P33121 77943 698 6.81 4 Peroxisome membrane;Microsome membrane;Mitochondrion outer membrane;Mitochondrion;Nucleus;Endoplasmic reticulum membrane NA 1 PE1 -NX_P33151 87528 784 5.22 16 Cell membrane;Cell junction NA 1 PE1 -NX_P33176 109685 963 6.12 10 Cytosol;Microtubule organizing center;Cytoskeleton NA 0 PE1 -NX_P33240 60959 577 6.36 X Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_P33241 37192 339 4.69 11 Cell membrane;Cell membrane NA 0 PE1 -NX_P33260 55711 490 6.83 10 Microsome membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_P33261 55931 490 7.11 10 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_P33316 26563 252 9.46 15 Nucleoplasm;Nucleus;Mitochondrion NA 0 PE1 -NX_P33402 81750 732 7.77 11 Cytoplasm NA 0 PE1 -NX_P33527 171591 1531 6.71 16 Cell membrane;Cell membrane NA 17 PE1 -NX_P33552 9860 79 8.07 9 Cytoplasm NA 0 PE1 -NX_P33681 33048 288 7.58 3 Membrane NA 1 PE1 -NX_P33763 10744 92 5.01 1 Nucleoplasm NA 0 PE1 -NX_P33764 11713 101 4.71 1 Nucleolus;Cytosol;Cytoplasm NA 0 PE1 -NX_P33778 13950 126 10.31 6 Nucleus;Chromosome NA 0 PE1 -NX_P33897 82937 745 9.09 X Peroxisome membrane Adrenoleukodystrophy 5 PE1 -NX_P33908 72969 653 6.04 6 Cytosol;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_P33947 24422 212 8.86 7 Endoplasmic reticulum membrane NA 7 PE1 -NX_P33981 97072 857 8.41 6 Nucleolus;Cytosol NA 0 PE1 -NX_P33991 96558 863 6.28 8 Nucleoplasm;Nucleus Natural killer cell and glucocorticoid deficiency with DNA repair defect 0 PE1 -NX_P33992 82286 734 8.64 22 Nucleus;Cytosol;Nucleoplasm Meier-Gorlin syndrome 8 0 PE1 -NX_P33993 81308 719 6.08 7 Nucleus;Nucleoplasm NA 0 PE1 -NX_P34059 58026 522 6.25 16 Cytosol;Lysosome Mucopolysaccharidosis 4A 0 PE1 -NX_P34096 16840 147 9.3 14 Secreted NA 0 PE1 -NX_P34130 22427 210 9.01 19 Secreted;Golgi apparatus Glaucoma 1, open angle, O 0 PE1 -NX_P34741 22160 201 4.75 8 Cytosol;Membrane;Cell membrane NA 1 PE1 -NX_P34810 37408 354 9.1 17 Cell membrane;Endosome membrane;Lysosome membrane;Golgi apparatus;Cytoplasmic vesicle NA 1 PE1 -NX_P34820 44768 402 8.76 1 Secreted NA 0 PE1 -NX_P34896 53083 483 7.61 17 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P34897 55993 504 8.76 12 Mitochondrion;Mitochondrion;Cytoskeleton;Mitochondrion nucleoid;Mitochondrion inner membrane;Cytoplasm;Nucleus NA 0 PE1 -NX_P34903 55165 492 8.81 X Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_P34910 48666 448 4.67 17 Membrane NA 1 PE1 -NX_P34913 62616 555 5.91 8 Cytosol;Peroxisome;Cytoplasm NA 0 PE1 -NX_P34925 67507 604 7.52 3 Nucleolus;Nucleus;Membrane;Nucleus;Cytoplasm NA 1 PE1 -NX_P34931 70375 641 5.76 6 NA NA 0 PE1 -NX_P34932 94331 840 5.11 5 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P34947 67787 590 8.39 10 Nucleus speckle;Nucleus membrane;Cytoplasm;Cell membrane;Nucleus;Cell membrane NA 0 PE1 -NX_P34949 46656 423 5.62 15 Cell membrane;Cytosol;Cytoplasm Congenital disorder of glycosylation 1B 0 PE1 -NX_P34969 53555 479 9.09 10 Cytosol;Nucleus speckle;Cell membrane;Cell membrane NA 7 PE1 -NX_P34972 39681 360 8.52 1 Cell membrane;Dendrite;Perikaryon NA 7 PE1 -NX_P34981 45085 398 8.62 8 Cell membrane NA 7 PE1 -NX_P34982 35240 312 9.07 17 Cell membrane NA 7 PE1 -NX_P34995 41801 402 11.72 19 Cell membrane NA 7 PE2 -NX_P34998 50719 444 9.47 17 Cell membrane;Endosome NA 7 PE1 -NX_P35030 32529 304 7.46 9 Secreted NA 0 PE1 -NX_P35052 61680 558 7.07 2 Cell membrane;Cytosol;Extracellular space;Endosome;Cell membrane NA 0 PE1 -NX_P35070 19746 178 8.53 4 Extracellular space;Cell membrane NA 1 PE1 -NX_P35080 15046 140 6.55 3 Cytoskeleton NA 0 PE1 -NX_P35125 158658 1406 7.87 17 Cytoplasm;Cell membrane;Endosome NA 0 PE1 -NX_P35212 37414 333 7.5 1 Cell membrane;Gap junction NA 4 PE1 -NX_P35218 34750 305 7.18 16 Mitochondrion Hyperammonemia due to carbonic anhydrase VA deficiency 0 PE1 -NX_P35219 32973 290 4.78 8 NA Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 0 PE1 -NX_P35221 100071 906 5.95 5 Cell junction;Cell membrane;Cell junction;Adherens junction;Cytoskeleton;Cell membrane Macular dystrophy, patterned, 2 0 PE1 -NX_P35222 85497 781 5.53 3 Cytoplasm;Nucleus;Cytoskeleton;Cell membrane;Spindle pole;Adherens junction;Synapse;Cell membrane;Centrosome;Cell junction Pilomatrixoma;Medulloblastoma;Mental retardation, autosomal dominant 19;Ovarian cancer;Colorectal cancer;Mesothelioma, malignant;Vitreoretinopathy, exudative 7 0 PE1 -NX_P35225 15816 146 8.69 5 Secreted;Cell membrane;Cytosol Allergic rhinitis 0 PE1 -NX_P35226 36949 326 8.9 10 Nucleus;Nucleolus;Nucleus;Nucleus;Cytoplasm;Cytosol NA 0 PE1 -NX_P35227 37788 344 8.21 17 Nucleus;Nucleus NA 0 PE1 -NX_P35228 131117 1153 8.2 17 NA NA 0 PE1 -NX_P35232 29804 272 5.57 17 Mitochondrion;Cytoplasmic vesicle;Mitochondrion inner membrane;Mitochondrion NA 0 PE1 -NX_P35236 40529 360 6.33 1 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_P35237 42622 376 5.18 6 Cytoplasm;Centrosome;Cytoplasm Deafness, autosomal recessive, 91 0 PE1 -NX_P35240 69690 595 6.11 22 Filopodium membrane;Cytosol;Cytoskeleton;Ruffle membrane;Nucleus;Perinuclear region;Nucleus;Cytoplasmic granule;Cell membrane Mesothelioma, malignant;Schwannomatosis 1;Neurofibromatosis 2 0 PE1 -NX_P35241 68564 583 6.03 11 Cytoplasm;Cell membrane;Cell membrane;Cytoskeleton;Cleavage furrow Deafness, autosomal recessive, 24 0 PE1 -NX_P35243 23130 200 5.06 17 NA NA 0 PE1 -NX_P35244 13569 121 4.96 7 Nucleus NA 0 PE1 -NX_P35247 37728 375 6.25 10 Surface film;Extracellular matrix NA 0 PE1 -NX_P35249 39682 363 8.26 3 Nucleus;Nucleoplasm NA 0 PE1 -NX_P35250 39157 354 6.04 7 Nucleus;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_P35251 128255 1148 9.38 4 Nucleus;Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_P35268 14787 128 9.21 1 Nucleolus;Cytoplasm NA 0 PE1 -NX_P35269 58240 517 7.04 19 Cell junction;Nucleus;Nucleus NA 0 PE1 -NX_P35270 28048 261 8.25 2 Nucleoplasm;Cytosol;Cytoplasm Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency 0 PE1 -NX_P35318 20420 185 10.84 11 Secreted NA 0 PE1 -NX_P35321 9877 89 8.85 1 Cytoplasm NA 0 PE1 -NX_P35325 7975 72 8.81 1 Cytoplasm NA 0 PE2 -NX_P35326 7965 72 8.81 1 Cytoplasm NA 0 PE1 -NX_P35346 39202 364 9.58 16 Cell membrane;Cell membrane NA 7 PE1 -NX_P35348 51487 466 9.26 8 Nucleus membrane;Cell membrane;Caveola;Cytoplasm NA 7 PE1 -NX_P35354 68996 604 7.02 1 Endoplasmic reticulum;Microsome membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_P35367 55784 487 9.33 3 Cytosol;Cell membrane;Cell membrane NA 7 PE1 -NX_P35368 56836 520 9.53 5 Cell membrane;Caveola;Nucleus membrane;Cell membrane;Cytoplasm NA 7 PE1 -NX_P35372 44779 400 8.62 6 Endosome;Cytoplasm;Cell membrane;Axon;Perikaryon;Dendrite NA 7 PE1 -NX_P35398 58975 523 6.3 15 Nucleus NA 0 PE1 -NX_P35408 53119 488 9.08 5 Cell membrane NA 7 PE1 -NX_P35410 42411 378 8.71 6 Cell membrane;Nucleoplasm;Cell membrane;Cytosol NA 7 PE2 -NX_P35414 42660 380 7.46 11 Cell membrane NA 7 PE1 -NX_P35442 129991 1172 4.62 6 Nucleus speckle;Cytosol;Cell membrane Intervertebral disc disease 0 PE1 -NX_P35443 105869 961 4.44 5 Sarcoplasmic reticulum;Cytoplasmic vesicle;Secreted;Extracellular space;Extracellular matrix;Endoplasmic reticulum NA 0 PE1 -NX_P35452 29031 270 9.82 2 Nucleus NA 0 PE1 -NX_P35453 36101 343 9.5 2 Nucleus;Nucleus Synpolydactyly 1;Brachydactyly D;Brachydactyly-syndactyly-oligodactyly syndrome;Syndactyly 5;Brachydactyly-syndactyly syndrome;VACTERL association;Brachydactyly E1 0 PE1 -NX_P35462 44225 400 9.2 3 Cell membrane Tremor, hereditary essential 1;Schizophrenia 7 PE1 -NX_P35475 72670 653 9.25 4 Lysosome Mucopolysaccharidosis 1H/S;Mucopolysaccharidosis 1S;Mucopolysaccharidosis 1H 0 PE1 -NX_P35498 228972 2009 5.6 2 Cell membrane;Nucleoplasm;Nucleus;Cell membrane Generalized epilepsy with febrile seizures plus 2;Intractable childhood epilepsy with generalized tonic-clonic seizures;Migraine, familial hemiplegic, 3;Febrile seizures, familial, 3A;Epileptic encephalopathy, early infantile, 6 24 PE1 -NX_P35499 208061 1836 4.99 17 Nucleoplasm;Cell membrane;Microtubule organizing center Periodic paralysis normokalemic;Periodic paralysis hypokalemic 2;Periodic paralysis hyperkalemic;Paramyotonia congenita of von Eulenburg;Myotonia SCN4A-related;Myasthenic syndrome, congenital, 16 24 PE1 -NX_P35503 60338 534 8.41 2 Microsome;Endoplasmic reticulum membrane NA 1 PE1 -NX_P35504 60071 534 8.24 2 Endoplasmic reticulum membrane;Microsome NA 1 PE2 -NX_P35520 60587 551 6.2 21 Cytoplasm;Nucleus Cystathionine beta-synthase deficiency 0 PE1 -NX_P35523 108626 988 5.68 7 Cell membrane Myotonia congenita, autosomal dominant;Myotonia congenita, autosomal recessive 10 PE1 -NX_P35527 62064 623 5.14 17 NA Keratoderma, palmoplantar, epidermolytic 0 PE1 -NX_P35542 14747 130 9.17 11 Secreted NA 0 PE1 -NX_P35544 7760 74 4.31 11 NA NA 0 PE1 -NX_P35548 28897 267 9.68 5 Nucleus speckle;Nucleus Parietal foramina 1;Parietal foramina with cleidocranial dysplasia;Craniosynostosis 2 0 PE1 -NX_P35555 312237 2871 4.81 15 Extracellular matrix;Cytosol;Secreted;Secreted Geleophysic dysplasia 2;Acromicric dysplasia;Stiff skin syndrome;Marfan syndrome;Marfan lipodystrophy syndrome;Overlap connective tissue disease;Weill-Marchesani syndrome 2;Ectopia lentis 1, isolated, autosomal dominant 0 PE1 -NX_P35556 314775 2912 4.73 5 Nucleoplasm;Cytosol;Extracellular matrix Macular degeneration, early-onset;Arthrogryposis, distal, 9 0 PE1 -NX_P35557 52191 465 5.1 7 Golgi apparatus;Nucleus;Cytosol;Cytoplasm Maturity-onset diabetes of the young 2;Familial hyperinsulinemic hypoglycemia 3;Diabetes mellitus, non-insulin-dependent;Diabetes mellitus, permanent neonatal 0 PE1 -NX_P35558 69195 622 5.8 20 Cytoplasm Cytosolic phosphoenolpyruvate carboxykinase deficiency 0 PE1 -NX_P35568 131591 1242 8.83 2 Cytosol;Nucleoplasm Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_P35573 174764 1532 6.31 1 Cytoplasm;Nucleoplasm;Cytosol Glycogen storage disease 3 0 PE1 -NX_P35575 40484 357 8.72 17 Endoplasmic reticulum membrane Glycogen storage disease 1A 9 PE1 -NX_P35579 226532 1960 5.5 22 Cell membrane;Cytosol;Cytoskeleton;Cytoskeleton;Cell cortex Deafness, autosomal dominant, 17;Macrothrombocytopenia and progressive sensorineural deafness;Epstein syndrome;Fechtner syndrome;Sebastian syndrome;May-Hegglin anomaly 0 PE1 -NX_P35580 228999 1976 5.44 17 Lamellipodium;Mitochondrion;Cytosol;Cytoskeleton NA 0 PE1 -NX_P35590 125090 1138 6.63 1 Cell membrane;Cytoplasmic vesicle NA 1 PE1 -NX_P35606 102487 906 5.15 3 COPI-coated vesicle membrane;Golgi apparatus;Cytoplasm;Cytosol;Cytosol;Golgi apparatus membrane NA 0 PE1 -NX_P35609 103854 894 5.31 1 Z line Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction;Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction 0 PE1 -NX_P35610 64735 550 9.08 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 5 PE1 -NX_P35611 80955 737 5.6 4 Nucleoplasm;Cell membrane;Cell membrane;Cytoskeleton NA 0 PE1 -NX_P35612 80854 726 5.67 2 Cell membrane;Cytoskeleton;Nucleoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_P35613 42200 385 5.39 19 Cell membrane;Melanosome;Cell membrane;Cytoplasmic vesicle NA 1 PE1 -NX_P35625 24145 211 9 22 Extracellular matrix Sorsby fundus dystrophy 0 PE1 -NX_P35626 79710 688 7.55 22 Cell membrane;Nucleus NA 0 PE1 -NX_P35637 53426 526 9.4 16 Nucleus;Nucleoplasm Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia;Angiomatoid fibrous histiocytoma;Tremor, hereditary essential 4 0 PE1 -NX_P35638 19175 169 4.61 12 Nucleoplasm;Cytoplasm;Nucleus Myxoid liposarcoma 0 PE1 -NX_P35658 213620 2090 7.15 9 Nucleus;Cytoplasmic vesicle;Focal adhesion;Nuclear pore complex NA 0 PE1 -NX_P35659 42674 375 8.69 6 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_P35663 74242 651 9.68 X Calyx NA 0 PE1 -NX_P35670 157263 1465 6.25 13 Golgi apparatus;Cytoplasm;Mitochondrion;trans-Golgi network membrane;Late endosome;Golgi apparatus membrane Wilson disease 8 PE1 -NX_P35680 61324 557 7.39 17 Nucleoplasm;Nucleus Diabetes mellitus, non-insulin-dependent;Prostate cancer, hereditary, 11;Renal cysts and diabetes syndrome 0 PE1 -NX_P35711 84026 763 6.15 12 Nucleus;Nucleoplasm Lamb-Shaffer syndrome 0 PE1 -NX_P35712 91921 828 7.65 11 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_P35713 40891 384 8.16 20 Nucleus;Nucleus Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome;Hypotrichosis-lymphedema-telangiectasia syndrome 0 PE1 -NX_P35716 46679 441 4.91 2 Nucleus Mental retardation, autosomal dominant 27 0 PE1 -NX_P35749 227339 1972 5.42 16 Melanosome;Cell membrane;Cytosol Aortic aneurysm, familial thoracic 4 0 PE1 -NX_P35754 11776 106 8.33 5 Cytoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_P35789 70971 620 9.4 19 Nucleus NA 0 PE1 -NX_P35790 52249 457 6.16 11 Endoplasmic reticulum;Cytoplasm NA 0 PE1 -NX_P35813 42448 382 5.19 14 Membrane;Nucleus;Cytosol;Cytosol;Cell membrane NA 0 PE1 -NX_P35858 66035 605 6.33 16 Extracellular space;Nucleoplasm Acid-labile subunit deficiency 0 PE1 -NX_P35869 96147 848 5.94 7 Nucleus;Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_P35900 48487 424 5.52 17 Cytoplasm;Cytosol NA 0 PE1 -NX_P35908 65433 639 8.07 12 Cytoskeleton;Golgi apparatus;Cytosol Ichthyosis bullosa of Siemens 0 PE1 -NX_P35913 98336 854 5.11 4 Membrane;Cytosol Night blindness, congenital stationary, autosomal dominant 2;Retinitis pigmentosa 40 0 PE1 -NX_P35914 34360 325 8.81 1 Peroxisome;Mitochondrion matrix 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 0 PE1 -NX_P35916 152757 1363 5.9 5 Cell junction;Nucleus speckle;Cell membrane;Cell membrane;Cytoplasm;Nucleus;Secreted Lymphedema, hereditary, 1A;Hemangioma, capillary infantile 1 PE1 -NX_P35968 151527 1356 5.6 4 Early endosome;Secreted;Cell membrane;Cell junction;Endoplasmic reticulum;Cell membrane;Cytoplasm;Nucleus;Cytoplasmic vesicle Hemangioma, capillary infantile 1 PE1 -NX_P35998 48634 433 5.71 7 Cytosol;Cytosol;Cytoplasm;P-body;Nucleus NA 0 PE1 -NX_P36021 59511 539 5.43 X Cell membrane;Cell membrane Monocarboxylate transporter 8 deficiency 12 PE1 -NX_P36222 42625 383 8.69 1 Endoplasmic reticulum;Perinuclear region;Cytoplasm;Extracellular space;Cytoplasmic vesicle Schizophrenia;Asthma-related traits 7 0 PE1 -NX_P36268 61771 569 7.22 22 Perinuclear region;Endoplasmic reticulum NA 0 PE1 -NX_P36269 62261 586 7.24 22 Nucleolus;Membrane NA 1 PE1 -NX_P36382 40380 358 8.81 1 Cell membrane;Gap junction Atrial standstill 1;Atrial fibrillation, familial, 11 4 PE1 -NX_P36383 45470 396 6.9 17 Cytosol;Cell membrane;Gap junction;Nucleolus;Cell junction NA 4 PE1 -NX_P36402 41642 384 6.32 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_P36404 20878 184 5.95 11 Cytoplasm;Nucleus;Centrosome;Nucleus;Golgi apparatus;Cytosol;Focal adhesion;Nucleolus;Mitochondrion intermembrane space NA 0 PE1 -NX_P36405 20456 182 6.74 10 Cell membrane;Cytoplasm;Golgi apparatus membrane;Spindle;Centrosome;Nucleus;Centrosome;Cilium;Nucleus NA 0 PE1 -NX_P36406 64067 574 5.93 5 Endomembrane system;Golgi apparatus membrane;Lysosome membrane NA 0 PE1 -NX_P36507 44424 400 6.12 19 Cytoplasm;Cytosol;Membrane;Cytoplasm Cardiofaciocutaneous syndrome 4 0 PE1 -NX_P36508 61831 570 5.66 6 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_P36537 60774 528 9.12 4 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_P36542 32996 298 9.23 10 Cytoplasm;Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P36543 26145 226 7.7 22 Nucleoplasm Cutis laxa, autosomal recessive, 2C 0 PE1 -NX_P36544 56449 502 6.02 15 Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_P36551 50152 454 8.59 3 Mitochondrion intermembrane space;Mitochondrion Hereditary coproporphyria 0 PE1 -NX_P36575 42778 388 5.53 X NA NA 0 PE1 -NX_P36578 47697 427 11.07 15 Endoplasmic reticulum;Nucleolus;Cytosol;Nucleus NA 0 PE1 -NX_P36639 22520 197 5.15 7 Cytosol;Cytoplasm;Mitochondrion matrix;Nucleus NA 0 PE1 -NX_P36776 106489 959 6.01 19 Mitochondrion;Mitochondrion matrix;Nucleus CODAS syndrome 0 PE1 -NX_P36871 61449 562 6.3 1 Cytoplasm;Cytoskeleton Congenital disorder of glycosylation 1T 0 PE1 -NX_P36873 36984 323 6.12 12 Cytoplasm;Kinetochore;Mitochondrion;Midbody;Cleavage furrow;Nucleus speckle;Nucleoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_P36888 112903 993 5.48 13 Endoplasmic reticulum lumen;Endoplasmic reticulum;Membrane Leukemia, acute myelogenous 1 PE1 -NX_P36894 60198 532 7.71 10 Membrane;Cytosol Juvenile polyposis syndrome;Polyposis syndrome, mixed hereditary 2 1 PE1 -NX_P36896 56807 505 6.6 12 Cell membrane;Cytosol NA 1 PE1 -NX_P36897 55960 503 7.51 9 Cell membrane;Cell membrane;Tight junction;Cell surface;Cytoplasmic vesicle;Membrane raft Multiple self-healing squamous epithelioma;Loeys-Dietz syndrome 1 1 PE1 -NX_P36915 68661 607 5.57 6 Cytoplasmic vesicle NA 0 PE1 -NX_P36941 46709 435 5.53 12 Membrane;Golgi apparatus NA 1 PE1 -NX_P36952 42100 375 5.72 18 Cytoplasmic vesicle;Extracellular space NA 0 PE1 -NX_P36954 14523 125 5.04 19 Nucleolus;Nucleoplasm NA 0 PE1 -NX_P36955 46312 418 5.97 17 Secreted;Melanosome Osteogenesis imperfecta 6 0 PE1 -NX_P36956 121675 1147 8.43 17 Endoplasmic reticulum membrane;Golgi apparatus;Nucleus;Golgi apparatus membrane;COPII-coated vesicle membrane;Nucleus;Cytosol NA 2 PE1 -NX_P36957 48755 453 9.1 14 Mitochondrion NA 0 PE1 -NX_P36959 37419 345 6.6 6 NA NA 0 PE1 -NX_P36969 22175 197 8.69 19 Cytoplasm;Mitochondrion;Nucleoplasm;Mitochondrion;Cytoplasm Spondylometaphyseal dysplasia, Sedaghatian type 0 PE1 -NX_P36980 30651 270 6 1 Secreted NA 0 PE1 -NX_P37023 56124 503 7.56 12 Cell membrane Telangiectasia, hereditary hemorrhagic, 2 1 PE1 -NX_P37058 34516 310 8.9 9 Cytoplasmic vesicle;Endoplasmic reticulum Male pseudohermaphrodism with gynecomastia 0 PE1 -NX_P37059 42785 387 8.79 16 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_P37088 75704 669 7.47 12 Cytoplasm;Cytoplasmic granule;Apical cell membrane;Cilium Pseudohypoaldosteronism 1, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 2 2 PE1 -NX_P37108 14570 136 10.05 15 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P37173 64568 567 5.6 3 Cell membrane;Cell membrane;Membrane raft Loeys-Dietz syndrome 2;Esophageal cancer;Hereditary non-polyposis colorectal cancer 6 1 PE1 -NX_P37198 53255 522 5.21 19 Nucleus envelope;Spindle pole;Cytoplasmic vesicle;Nucleus membrane;Centrosome;Nuclear pore complex;Nucleus envelope Infantile striatonigral degeneration 0 PE1 -NX_P37231 57620 505 5.61 3 Cytoplasmic vesicle;Nucleus;Nucleus;Cytoplasm Obesity;Glioma 1;Lipodystrophy, familial partial, 3 0 PE1 -NX_P37235 22313 193 5.21 2 Membrane NA 0 PE1 -NX_P37268 48115 417 6.1 8 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 2 PE1 -NX_P37275 124074 1124 4.87 10 Nucleus;Nucleoplasm Corneal dystrophy, Fuchs endothelial, 6;Corneal dystrophy, posterior polymorphous, 3 0 PE1 -NX_P37287 54127 484 8.63 X Endoplasmic reticulum membrane Paroxysmal nocturnal hemoglobinuria 1;Multiple congenital anomalies-hypotonia-seizures syndrome 2 1 PE1 -NX_P37288 46800 418 9.48 12 Cell membrane NA 7 PE1 -NX_P37802 22391 199 8.41 1 Cytosol;Cytoskeleton NA 0 PE1 -NX_P37837 37540 337 6.36 11 Cytoplasm;Cytosol;Nucleoplasm;Nucleus;Cytoplasm Transaldolase deficiency 0 PE1 -NX_P37840 14460 140 4.67 4 Cytosol;Membrane;Secreted;Synapse;Nucleus Parkinson disease 4, autosomal dominant;Parkinson disease 1, autosomal dominant;Dementia Lewy body 0 PE1 -NX_P38117 27844 255 8.25 19 Cytoplasm;Mitochondrion matrix;Mitochondrion Glutaric aciduria 2B 0 PE1 -NX_P38159 42332 391 10.06 X Nucleus Mental retardation, X-linked, syndromic, 11 0 PE1 -NX_P38398 207721 1863 5.29 17 Nucleus;Chromosome;Cytoplasm Breast-ovarian cancer, familial, 1;Breast cancer;Pancreatic cancer 4;Ovarian cancer 0 PE1 -NX_P38405 44308 381 6.23 18 Nucleus;Cytosol Dystonia 25 0 PE1 -NX_P38432 62608 576 9.2 17 Nucleus;Nucleus;Nucleolus;Nucleus;Cajal body NA 0 PE1 -NX_P38435 87561 758 8.17 2 Endoplasmic reticulum membrane Combined deficiency of vitamin K-dependent clotting factors 1;Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 5 PE1 -NX_P38484 37806 337 5.27 21 Cell membrane;Golgi apparatus;Cytoplasmic vesicle membrane;Nucleoplasm;Golgi apparatus membrane;Endoplasmic reticulum membrane;Cytoplasm Immunodeficiency 28 1 PE1 -NX_P38567 57848 509 6.62 7 Cell membrane NA 0 PE1 -NX_P38570 130159 1179 5.48 17 Membrane NA 1 PE1 -NX_P38571 45419 399 6.42 10 Cytoplasmic vesicle;Lysosome Cholesteryl ester storage disease;Wolman disease 0 PE1 -NX_P38606 68304 617 5.35 3 Cytoplasmic vesicle;Cytosol;Nucleus Cutis laxa, autosomal recessive, 2D 0 PE1 -NX_P38646 73680 679 5.87 5 Mitochondrion;Mitochondrion;Nucleolus Even-plus syndrome;Anemia, sideroblastic, 4 0 PE1 -NX_P38919 46871 411 6.3 17 Nucleoplasm;Cytoplasm;Nucleus speckle;Nucleus Richieri-Costa-Pereira syndrome 0 PE1 -NX_P38935 109149 993 9.13 11 Nucleus;Nucleus;Cytoplasm;Axon Charcot-Marie-Tooth disease 2S;Neuronopathy, distal hereditary motor, 6 0 PE1 -NX_P38936 18119 164 8.69 6 Nucleus;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P39019 16060 145 10.31 19 Nucleus Diamond-Blackfan anemia 1 0 PE1 -NX_P39023 46109 403 10.19 22 Nucleolus;Nucleolus;Cytosol;Cytoplasm NA 0 PE1 -NX_P39059 141720 1388 4.9 9 Endoplasmic reticulum;Extracellular matrix NA 0 PE1 -NX_P39060 178188 1754 5.67 21 Golgi apparatus;Basement membrane;Basement membrane;Extracellular matrix;Secreted;Secreted;Basement membrane Knobloch syndrome 1 0 PE1 -NX_P39086 103981 918 6.65 21 Cell membrane;Postsynaptic cell membrane NA 3 PE1 -NX_P39210 19733 176 9.54 2 Mitochondrion inner membrane Mitochondrial DNA depletion syndrome 6 4 PE1 -NX_P39656 50801 456 6.09 1 Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1R 1 PE1 -NX_P39687 28585 249 3.99 15 Nucleus;Cytoplasm;Endoplasmic reticulum NA 0 PE1 -NX_P39748 42593 380 8.8 11 Nucleolus;Nucleolus;Nucleus;Nucleoplasm;Mitochondrion;Mitochondrion;Cell membrane NA 0 PE1 -NX_P39877 15674 138 8.79 1 Secreted Fleck retina, familial benign 0 PE1 -NX_P39880 164187 1505 5.72 7 Nucleus NA 0 PE1 -NX_P39900 54002 470 8.75 11 Extracellular matrix NA 0 PE1 -NX_P39905 23720 211 9.26 5 Cytoplasmic vesicle;Secreted;Nucleoplasm Pheochromocytoma;Hirschsprung disease 3;Congenital central hypoventilation syndrome 0 PE1 -NX_P40121 38499 348 5.82 2 Nucleus;Nucleus;Cytoplasm;Secreted;Melanosome NA 0 PE1 -NX_P40123 52824 477 5.95 6 Cytosol;Cell membrane;Cell membrane;Nucleoplasm NA 0 PE1 -NX_P40126 59145 519 6.73 13 Melanosome;Melanosome membrane NA 1 PE1 -NX_P40145 140122 1251 6.53 8 Membrane NA 12 PE1 -NX_P40189 103537 918 5.62 5 Golgi apparatus;Cell membrane;Secreted;Cell membrane NA 1 PE1 -NX_P40197 60959 560 9.73 3 Membrane NA 1 PE1 -NX_P40198 27091 252 6.15 19 Membrane NA 1 PE1 -NX_P40199 37195 344 5.56 19 Cell membrane NA 0 PE1 -NX_P40200 65634 585 6.71 3 Membrane C syndrome 1 PE1 -NX_P40205 11733 109 9.03 2 Cytoplasm;Nucleus NA 0 PE1 -NX_P40222 61891 546 6.15 1 Cytoplasm;Cytosol;Nucleoplasm;Centrosome NA 0 PE1 -NX_P40225 37823 353 9.54 3 Secreted Thrombocythemia 1 0 PE1 -NX_P40227 58024 531 6.24 7 Cytoplasm;Cytoplasm NA 0 PE1 -NX_P40238 71245 635 6.03 1 Cell membrane;Golgi apparatus;Cell surface;Cell membrane Myelofibrosis with myeloid metaplasia;Congenital amegakaryocytic thrombocytopenia;Thrombocythemia 2 1 PE1 -NX_P40259 26048 229 5.67 17 Nucleoplasm;Cell membrane;Cell membrane;Cytosol Agammaglobulinemia 6, autosomal recessive 1 PE1 -NX_P40261 29574 264 5.56 11 Golgi apparatus;Cytoplasm NA 0 PE1 -NX_P40305 11268 119 11.07 14 Endosome;Mitochondrion;Membrane NA 3 PE1 -NX_P40306 28936 273 7.69 16 Cytosol;Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_P40313 28002 264 8.56 16 Nucleoplasm NA 0 PE1 -NX_P40337 24153 213 4.7 3 Cytoplasm;Nucleus;Nucleoplasm;Cytosol;Membrane Pheochromocytoma;von Hippel-Lindau disease;Erythrocytosis, familial, 2;Renal cell carcinoma 0 PE1 -NX_P40394 41481 386 8.12 4 Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_P40424 46626 430 6.54 1 Nucleus Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0 PE1 -NX_P40425 45881 430 7.18 6 Nucleus;Nucleoplasm NA 0 PE1 -NX_P40426 47190 434 6.57 9 Cytoplasm;Nucleus;Nucleus NA 0 PE1 -NX_P40429 23577 203 10.94 19 Cytoplasm NA 0 PE1 -NX_P40616 20418 181 5.63 12 Golgi apparatus;Golgi apparatus;Golgi apparatus membrane;Membrane NA 0 PE1 -NX_P40617 22615 200 9.26 7 Nucleoplasm;Cell membrane;Cytoplasm;Cytosol;Nucleolus NA 0 PE1 -NX_P40692 84601 756 5.51 3 Nucleoplasm;Nucleus Endometrial cancer;Mismatch repair cancer syndrome;Hereditary non-polyposis colorectal cancer 2;Muir-Torre syndrome;Colorectal cancer 0 PE1 -NX_P40763 88068 770 5.94 17 Cytoplasm;Nucleoplasm;Nucleus;Cytoplasm;Cytosol Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant;Autoimmune disease, multisystem, infantile-onset, 1 0 PE1 -NX_P40818 127523 1118 8.7 15 Golgi apparatus;Cytosol;Cytoplasm;Nucleus;Endosome membrane;Cell membrane NA 0 PE1 -NX_P40855 32807 299 4.26 1 Peroxisome;Cytoplasm;Peroxisome membrane Peroxisome biogenesis disorder complementation group 14;Peroxisome biogenesis disorder 12A 0 PE1 -NX_P40879 84505 764 8.87 7 Apical cell membrane;Membrane Diarrhea 1, secretory chloride, congenital 10 PE1 -NX_P40925 36426 334 6.91 2 Cytoplasm;Cytoplasm;Centrosome;Cytosol NA 0 PE1 -NX_P40926 35503 338 8.92 7 Mitochondrion;Mitochondrion matrix Epileptic encephalopathy, early infantile, 51 0 PE1 -NX_P40933 18086 162 5.13 4 Nucleus speckle;Nucleoplasm;Cytoplasm;Nucleus;Secreted NA 0 PE1 -NX_P40937 38497 340 6.72 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_P40938 40556 356 8.66 13 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_P40939 83000 763 9.16 2 Mitochondrion;Mitochondrion Mitochondrial trifunctional protein deficiency;Maternal acute fatty liver of pregnancy;Long-chain 3-hydroxyl-CoA dehydrogenase deficiency 0 PE1 -NX_P40967 70255 661 5.37 12 Endoplasmic reticulum membrane;Golgi apparatus;Melanosome;Multivesicular body;Secreted NA 1 PE1 -NX_P41002 87640 786 5.92 16 Nucleus;Centriole;Centrosome NA 0 PE1 -NX_P41091 51109 472 8.66 X NA Mental retardation, X-linked, syndromic, Borck type 0 PE1 -NX_P41134 16133 155 6.57 20 Golgi apparatus;Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_P41143 40369 372 9.21 1 Cell membrane NA 7 PE1 -NX_P41145 42645 380 7.92 8 Cell membrane NA 7 PE1 -NX_P41146 40693 370 8.74 20 Cell membrane;Cytoplasmic vesicle NA 7 PE1 -NX_P41159 18641 167 5.88 7 Secreted Leptin deficiency 0 PE1 -NX_P41161 57838 510 5.43 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_P41162 57001 512 8.73 1 Nucleus;Nucleus NA 0 PE1 -NX_P41180 120675 1078 5.62 3 Cell membrane Hyperparathyroidism, neonatal severe;Epilepsy, idiopathic generalized 8;Hypocalciuric hypercalcemia, familial 1;Hypocalcemia, autosomal dominant 1 7 PE1 -NX_P41181 28837 271 6.44 12 Apical cell membrane;Basolateral cell membrane;Cytoplasmic vesicle membrane;trans-Golgi network membrane Diabetes insipidus, nephrogenic, autosomal 6 PE1 -NX_P41182 78846 706 8.28 3 Golgi apparatus;Nucleoplasm;Nucleus NA 0 PE1 -NX_P41208 19738 172 4.91 X Nucleus;Cytoplasm;Centriole;Nucleus NA 0 PE1 -NX_P41212 53000 452 6.95 12 Nucleus;Nucleolus;Cytosol Myeloproliferative disorder chronic with eosinophilia;Thrombocytopenia 5;Leukemia, acute myelogenous 0 PE1 -NX_P41214 64706 584 7.56 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P41217 31264 278 8.78 3 Cell membrane NA 1 PE1 -NX_P41218 45836 407 9.76 1 Nucleus;Cytoplasm;Nucleoplasm;Nucleolus NA 0 PE1 -NX_P41219 53651 470 5.37 12 NA NA 0 PE1 -NX_P41220 24382 211 9.05 1 Cytosol;Nucleolus;Cytoplasm;Cell membrane;Mitochondrion NA 0 PE1 -NX_P41221 42339 380 8.83 3 Extracellular matrix Robinow syndrome, autosomal dominant 1 0 PE1 -NX_P41222 21029 190 7.66 9 Nucleus membrane;Rough endoplasmic reticulum;Secreted;Perinuclear region;Golgi apparatus NA 0 PE1 -NX_P41223 17000 144 9.1 7 Cytoskeleton;Nucleus;Centrosome;Nucleus NA 0 PE1 -NX_P41225 45210 446 9.78 X Nucleoplasm;Nucleus Panhypopituitarism X-linked;Mental retardation, X-linked, with isolated growth hormone deficiency;46,XX sex reversal 3 0 PE1 -NX_P41226 111694 1012 5.64 3 Nucleoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_P41227 26459 235 5.41 X Nucleus;Cytoplasm;Cytosol;Cytoplasm;Nucleolus;Nucleus Microphthalmia, syndromic, 1;N-terminal acetyltransferase deficiency 0 PE1 -NX_P41229 175720 1560 5.44 X Cytosol;Nucleoplasm;Nucleus Mental retardation, X-linked, syndromic, Claes-Jensen type 0 PE1 -NX_P41231 42273 377 9.72 11 Cell membrane;Cytosol NA 7 PE1 -NX_P41235 52785 474 7.15 20 Nucleoplasm;Nucleus Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young;Maturity-onset diabetes of the young 1;Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_P41236 23015 205 4.64 3 Cytoplasm;Nucleus NA 0 PE1 -NX_P41238 28192 236 9.06 12 Cytoplasm NA 0 PE1 -NX_P41240 50704 450 6.62 15 Cytoplasmic vesicle;Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_P41247 27980 253 9.21 X Mitochondrion NA 0 PE1 -NX_P41250 83166 739 6.61 7 Cytoplasm;Cytosol;Cytoplasm;Axon;Exosome;Secreted Charcot-Marie-Tooth disease 2D;Neuronopathy, distal hereditary motor, 5A 0 PE1 -NX_P41252 144498 1262 5.82 9 Cytosol;Cytosol;Cytoplasm Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 PE1 -NX_P41271 19408 181 5.15 1 Secreted NA 0 PE1 -NX_P41273 26625 254 6.52 19 Golgi apparatus;Membrane NA 1 PE1 -NX_P41279 52925 467 5.54 10 Cytosol;Cytoplasm NA 0 PE1 -NX_P41439 27638 243 8.12 11 Secreted NA 0 PE1 -NX_P41440 64868 591 9.15 21 Membrane;Cell membrane NA 12 PE1 -NX_P41567 12732 113 6.9 17 NA NA 0 PE1 -NX_P41586 53314 468 5.5 7 Cytoplasmic vesicle;Cell membrane NA 7 PE1 -NX_P41587 49479 438 8.29 7 Cell membrane NA 7 PE1 -NX_P41594 132469 1212 8.07 11 Cell membrane NA 7 PE1 -NX_P41595 54298 481 9.22 2 Nucleoplasm;Cell membrane;Synaptosome NA 7 PE1 -NX_P41597 41915 374 9.24 3 Cell membrane NA 7 PE1 -NX_P41732 27574 249 6.86 X Membrane Mental retardation, X-linked 58 4 PE1 -NX_P41743 68262 596 5.54 3 Cytosol;Cytoplasm;Membrane;Endosome;Nucleus;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_P41968 36043 323 6.34 20 Cell membrane NA 7 PE1 -NX_P41970 44240 407 9.04 12 Mitochondrion;Nucleus;Nucleoplasm NA 0 PE1 -NX_P42025 42293 376 5.98 2 Cytoplasm;Cytoskeleton;Centrosome NA 0 PE1 -NX_P42081 37682 329 6.46 3 Cell membrane NA 1 PE1 -NX_P42126 32816 302 8.8 16 Mitochondrion matrix NA 0 PE1 -NX_P42127 14515 132 9.78 20 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P42166 75492 694 7.56 12 Nucleus membrane;Nucleus;Nucleus;Chromosome NA 0 PE1 -NX_P42167 50670 454 9.39 12 Cytoplasm;Nucleus inner membrane NA 1 PE1 -NX_P42224 87335 750 5.74 2 Nucleoplasm;Cytoplasm;Cytosol;Nucleus Immunodeficiency 31B;Immunodeficiency 31A;Immunodeficiency 31C 0 PE1 -NX_P42226 94135 847 5.84 12 Cytosol;Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_P42229 90647 794 5.98 17 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P42261 101506 906 7.79 5 Postsynaptic density;Early endosome membrane;Cell membrane;Endoplasmic reticulum membrane;Postsynaptic cell membrane;Dendrite;Dendritic spine;Recycling endosome membrane NA 3 PE1 -NX_P42262 98821 883 7.48 4 Cell membrane;Endoplasmic reticulum membrane;Postsynaptic cell membrane NA 3 PE1 -NX_P42263 101157 894 8.72 X Cell membrane;Postsynaptic cell membrane Mental retardation, X-linked 94 3 PE1 -NX_P42285 117805 1042 6.12 5 Nucleus;Nucleoplasm;Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_P42330 36853 323 8.06 10 Nucleus;Cytoplasm;Cytoplasm NA 0 PE1 -NX_P42331 73435 645 6.04 2 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_P42336 124284 1068 6.88 3 Cytosol Keratosis, seborrheic;Megalencephaly-capillary malformation-polymicrogyria syndrome;Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi;Ovarian cancer;Colorectal cancer;Hepatocellular carcinoma;Breast cancer;Cowden syndrome 5 0 PE1 -NX_P42338 122762 1070 6.69 3 Nucleolus;Midbody;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_P42345 288892 2549 6.73 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus membrane;Mitochondrion outer membrane;Lysosome;Cytoplasm;PML body;Microsome membrane;Cytosol Focal cortical dysplasia 2;Smith-Kingsmore syndrome 0 PE1 -NX_P42356 236830 2102 6.64 22 Cytoplasm;Cell membrane Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 PE1 -NX_P42357 72698 657 6.49 12 Cytosol Histidinemia 0 PE1 -NX_P42566 98656 896 4.52 1 Cytoplasmic vesicle;Early endosome membrane;Clathrin-coated pit;Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_P42568 63351 568 8.77 9 Cytosol;Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_P42574 31608 277 6.09 4 Cytoplasm;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_P42575 50685 452 6.35 7 Nucleoplasm NA 0 PE1 -NX_P42658 97588 865 5.95 7 Cell membrane Mental retardation, autosomal dominant 33;Familial paroxysmal ventricular fibrillation 2 1 PE1 -NX_P42677 9461 84 9.57 1 NA Diamond-Blackfan anemia 17 0 PE1 -NX_P42679 56469 507 9.01 19 Membrane;Cytoplasm NA 0 PE1 -NX_P42680 73581 631 8.69 4 Cell membrane;Cell membrane;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_P42681 61258 527 8.23 4 Cytoplasm;Nucleus;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_P42684 128343 1182 8.31 1 Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_P42685 58254 505 6.22 6 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P42694 218970 1942 7.04 17 Nucleolus;Nucleus;Cell membrane;Cytoskeleton NA 0 PE1 -NX_P42695 168891 1498 7.38 11 Nucleus;Nucleoplasm NA 0 PE1 -NX_P42696 48565 430 10.11 1 Nucleus;Nucleolus;Nucleolus NA 0 PE1 -NX_P42701 73109 662 5.28 19 Membrane;Cell membrane Immunodeficiency 30 1 PE1 -NX_P42702 123743 1097 5.5 5 Golgi apparatus;Nucleus speckle;Cell membrane Stueve-Wiedemann syndrome 1 PE1 -NX_P42704 157905 1394 5.81 2 Mitochondrion;Nucleus inner membrane;Nucleus outer membrane;Mitochondrion;Nucleoplasm Leigh syndrome French-Canadian type 0 PE1 -NX_P42765 41924 397 8.32 18 Mitochondrion;Mitochondrion NA 0 PE1 -NX_P42766 14551 123 11.04 9 Nucleolus;Cytoplasm;Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_P42768 52913 502 6.18 X Cytoskeleton Neutropenia, severe congenital, X-linked;Thrombocytopenia 1;Wiskott-Aldrich syndrome 0 PE1 -NX_P42771 16533 156 5.52 9 Nucleus;Cytoplasm Melanoma-astrocytoma syndrome;Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome;Melanoma, cutaneous malignant 2 0 PE1 -NX_P42772 14722 138 6.08 9 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P42773 18127 168 6.05 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_P42785 55800 496 6.76 11 Lysosome NA 0 PE1 -NX_P42830 11972 114 9.17 4 Secreted NA 0 PE1 -NX_P42857 20913 185 5.6 4 Mitochondrion;Golgi apparatus membrane NA 1 PE1 -NX_P42858 347603 3142 5.81 4 Cytoplasm;Nucleus;Nucleoplasm;Cytosol Huntington disease;Lopes-Maciel-Rodan syndrome 0 PE1 -NX_P42892 87164 770 5.61 1 Cell membrane Hirschsprung disease, cardiac defects, and autonomic dysfunction 1 PE1 -NX_P42898 74597 656 5.22 1 Cell junction Methylenetetrahydrofolate reductase deficiency;Ischemic stroke;Neural tube defects, folate-sensitive;Schizophrenia 0 PE1 -NX_P43003 59572 542 8.52 5 Nucleolus;Mitochondrion;Cell membrane Episodic ataxia 6 8 PE1 -NX_P43004 62104 574 6.09 11 Cell membrane Epileptic encephalopathy, early infantile, 41 8 PE1 -NX_P43005 57100 524 5.56 9 Cell membrane;Apical cell membrane Schizophrenia 18;Dicarboxylic aminoaciduria 8 PE1 -NX_P43007 55723 532 5.88 2 Microtubule organizing center;Centrosome;Membrane;Melanosome Spastic tetraplegia, thin corpus callosum, and progressive microcephaly 9 PE1 -NX_P43026 55411 501 9.82 20 Secreted;Cell membrane Du Pan syndrome;Osteoarthritis 5;Symphalangism, proximal 1B;Brachydactyly A1, C;Acromesomelic chondrodysplasia, Hunter-Thompson type;Acromesomelic chondrodysplasia, Grebe type;Brachydactyly C;Multiple synostoses syndrome 2;Brachydactyly A2 0 PE1 -NX_P43034 46638 410 6.97 17 Centrosome;Spindle;Nucleus membrane;Centrosome;Cytoskeleton Miller-Dieker lissencephaly syndrome;Lissencephaly 1;Subcortical band heterotopia 0 PE1 -NX_P43080 22920 201 4.34 6 Membrane;Cell membrane Cone dystrophy 3 0 PE1 -NX_P43088 40055 359 9.19 1 Cell membrane NA 7 PE1 -NX_P43115 43310 390 9.73 1 Cell membrane NA 7 PE1 -NX_P43116 39761 358 9.37 14 Cell membrane NA 7 PE1 -NX_P43119 40956 386 8.9 19 Cell membrane NA 7 PE1 -NX_P43121 71607 646 5.58 11 Membrane;Cell membrane NA 1 PE1 -NX_P43146 158457 1447 6.32 18 Golgi apparatus;Membrane Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2 1 PE1 -NX_P43155 70858 626 8.63 9 Endoplasmic reticulum;Peroxisome;Mitochondrion inner membrane;Mitochondrion;Nucleoplasm;Nucleus membrane NA 0 PE1 -NX_P43166 29658 264 6.92 16 Cytoplasm NA 0 PE1 -NX_P43220 53026 463 8.49 6 Cell membrane NA 7 PE1 -NX_P43234 35958 321 7.06 4 Lysosome NA 0 PE1 -NX_P43235 36966 329 8.72 1 Cytoplasmic vesicle;Lysosome Pycnodysostosis 0 PE1 -NX_P43243 94623 847 5.87 5 Nucleoplasm;Nucleus matrix Amyotrophic lateral sclerosis 21 0 PE1 -NX_P43246 104743 934 5.58 2 Nucleus;Nucleoplasm;Cytoplasmic vesicle Mismatch repair cancer syndrome;Hereditary non-polyposis colorectal cancer 1;Muir-Torre syndrome;Endometrial cancer;Colorectal cancer 0 PE1 -NX_P43250 65991 576 8.32 5 Mitochondrion;Membrane NA 0 PE1 -NX_P43251 61133 543 5.81 3 Extracellular space Biotinidase deficiency 0 PE1 -NX_P43268 53938 484 5.31 17 Nucleolus;Nucleus NA 0 PE1 -NX_P43304 80853 727 7.58 2 Mitochondrion NA 0 PE1 -NX_P43307 32235 286 4.39 6 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_P43308 20135 183 7.94 1 Endoplasmic reticulum membrane NA 1 PE1 -NX_P43320 23380 205 6.5 22 Nucleoplasm Cataract 3, multiple types 0 PE1 -NX_P43351 46169 418 8.49 12 Cell membrane;Nucleus speckle;Nucleus NA 0 PE1 -NX_P43353 51840 468 7.55 11 Cell membrane;Cell membrane NA 0 PE1 -NX_P43354 66591 598 8.19 2 Nucleus speckle;Cytoplasm;Nucleus NA 0 PE1 -NX_P43355 34342 309 4.83 X Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P43356 35055 314 4.7 X Nucleus;PML body NA 0 PE1 -NX_P43357 34747 314 4.57 X NA NA 0 PE1 -NX_P43358 34899 317 4.68 X Cytosol;Nucleus speckle NA 0 PE1 -NX_P43359 13016 124 4.63 X NA NA 0 PE2 -NX_P43360 34891 314 4.57 X NA NA 0 PE1 -NX_P43361 35215 318 4.71 X NA NA 0 PE1 -NX_P43362 35088 315 4.49 X Golgi apparatus NA 0 PE1 -NX_P43363 40780 369 4.32 X Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_P43364 48129 429 4.69 X Nucleus;Cytoplasm;Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_P43365 34836 314 4.71 X NA NA 0 PE1 -NX_P43366 39037 347 8.56 X NA NA 0 PE1 -NX_P43378 68020 593 8.19 15 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_P43403 69872 619 7.78 2 Cytoplasm;Cell membrane Autoimmune disease, multisystem, infantile-onset, 2;Immunodeficiency 48 0 PE1 -NX_P43405 72066 635 8.43 9 Cytosol;Cytoplasmic vesicle;Cell membrane;Cytosol;Cell membrane NA 0 PE1 -NX_P43487 23310 201 5.19 22 Cytoplasm;Cytosol NA 0 PE1 -NX_P43489 29341 277 8.68 1 Membrane Immunodeficiency 16 1 PE1 -NX_P43490 55521 491 6.69 7 Nucleus speckle;Cell junction;Cytoplasm;Secreted;Nucleus NA 0 PE1 -NX_P43626 38505 348 6.34 19 Cell membrane NA 1 PE1 -NX_P43627 38472 348 6.46 19 Cell membrane NA 1 PE1 -NX_P43628 37886 341 6.23 19 Cell membrane NA 1 PE1 -NX_P43629 49098 444 9.02 19 Cell membrane NA 1 PE1 -NX_P43630 50230 455 8.78 19 Cell membrane NA 1 PE1 -NX_P43631 33502 304 6.13 19 Cell membrane NA 1 PE1 -NX_P43632 33583 304 5.98 19 Cell membrane NA 1 PE1 -NX_P43652 69069 599 5.64 4 Secreted NA 0 PE1 -NX_P43657 39392 344 9.22 13 Cell membrane;Cell membrane;Cytoplasmic vesicle Hypotrichosis 8;Woolly hair autosomal recessive 1 with or without hypotrichosis 7 PE1 -NX_P43681 69957 627 6.81 20 Postsynaptic cell membrane;Cell membrane;Cell membrane Epilepsy, nocturnal frontal lobe, 1 4 PE1 -NX_P43686 47366 418 5.09 19 Nucleus;Cytoplasm;Cytoplasm;Nucleus;Nucleus;Cytosol NA 0 PE1 -NX_P43694 44565 442 9.39 8 Nucleus;Nucleus Atrioventricular septal defect 4;Tetralogy of Fallot;Testicular anomalies with or without congenital heart disease;Atrial septal defect 2;Ventricular septal defect 1 0 PE1 -NX_P43699 38596 371 9.72 14 Golgi apparatus;Cytoplasmic vesicle;Nucleus Thyroid cancer, non-medullary, 1;Chorea, hereditary benign;Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 0 PE1 -NX_P43897 35391 325 8.62 12 Nucleus;Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 3 0 PE1 -NX_P45378 31825 269 5.71 11 NA Arthrogryposis, distal, 2B 0 PE1 -NX_P45379 35924 298 4.94 1 Focal adhesion;Nucleolus;Nucleus Cardiomyopathy, dilated 1D;Cardiomyopathy, familial hypertrophic 2;Cardiomyopathy, familial restrictive 3 0 PE1 -NX_P45381 35735 313 6.06 17 Nucleus;Cytoplasm;Cytosol Canavan disease 0 PE1 -NX_P45452 53820 471 5.32 11 Secreted;Extracellular matrix Metaphyseal dysplasia, Spahr type;Metaphyseal anadysplasia 1;Spondyloepimetaphyseal dysplasia Missouri type 0 PE1 -NX_P45844 75592 678 8.02 21 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cytoplasmic vesicle;Golgi apparatus NA 6 PE1 -NX_P45877 22763 212 8.48 5 Cytoplasm NA 0 PE1 -NX_P45880 31567 294 7.5 10 Mitochondrion outer membrane;Mitochondrion NA 0 PE1 -NX_P45954 47485 432 6.53 10 Mitochondrion matrix;Mitochondrion Short/branched-chain acyl-CoA dehydrogenase deficiency 0 PE1 -NX_P45973 22225 191 5.71 12 Nucleus;Nucleus;Centromere;Nucleus;Chromosome NA 0 PE1 -NX_P45974 95786 858 4.91 12 Cytosol;Nucleoplasm NA 0 PE1 -NX_P45983 48296 427 6.43 10 Nucleus;Cytoplasm NA 0 PE1 -NX_P45984 48139 424 5.41 5 Cytoplasm;Nucleus NA 0 PE1 -NX_P45985 44288 399 8.28 17 Nucleoplasm;Cell junction;Cytoplasm;Nucleus NA 0 PE1 -NX_P46013 358694 3256 9.49 10 Nucleolus;Nucleus;Nucleolus;Nucleus;Chromosome;Nucleus;Nucleolus NA 0 PE1 -NX_P46019 138408 1235 5.99 X Nucleoplasm;Cell membrane Glycogen storage disease 9A 0 PE1 -NX_P46020 137312 1223 5.8 X Cytoplasmic vesicle;Cell membrane Glycogen storage disease 9D 0 PE1 -NX_P46059 78806 708 8.72 13 Cytosol;Nucleoplasm;Membrane NA 12 PE1 -NX_P46060 63542 587 4.63 22 Cytoplasmic vesicle;Spindle pole;Kinetochore;Nucleus membrane;Cytoplasm;Cytosol;Nucleus membrane NA 0 PE1 -NX_P46063 73457 649 8.13 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_P46087 89302 812 9.27 12 Nucleus;Nucleolus;Nucleolus;Nucleolus NA 0 PE1 -NX_P46089 35010 330 8.4 1 Cell membrane NA 7 PE1 -NX_P46091 41431 355 6.98 2 Cell membrane;Cytoplasmic vesicle;Cell membrane NA 7 PE1 -NX_P46092 38416 362 9.85 17 Endoplasmic reticulum;Cell membrane NA 7 PE1 -NX_P46093 40982 362 8.82 19 Cell membrane NA 7 PE2 -NX_P46094 38508 333 8.94 3 Cell membrane NA 7 PE1 -NX_P46095 37881 362 7.61 6 Cell membrane NA 7 PE1 -NX_P46098 55280 478 7.04 11 Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_P46100 282586 2492 6.2 X Nucleus;Nucleus;Telomere;PML body Mental retardation, X-linked, syndromic, with hypotonic facies 1;Alpha-thalassemia myelodysplasia syndrome;Alpha-thalassemia mental retardation syndrome, X-linked 0 PE1 -NX_P46108 33831 304 5.38 17 Cell membrane;Cytoplasm;Cell membrane NA 0 PE1 -NX_P46109 33777 303 6.26 22 Cell membrane;Cytosol;Nucleoplasm NA 0 PE1 -NX_P46199 81317 727 6.71 2 Mitochondrion;Mitochondrion NA 0 PE1 -NX_P46379 119409 1132 5.4 6 Cytosol;Nucleoplasm;Cytosol;Nucleus;Exosome NA 0 PE1 -NX_P46439 25675 218 6.91 1 Cytoplasm NA 0 PE1 -NX_P46459 82594 744 6.52 17 Cytosol;Cytoplasm NA 0 PE1 -NX_P46527 22073 198 6.54 12 Cytoplasmic vesicle;Nucleus;Endosome;Nucleus;Cytoplasm Multiple endocrine neoplasia 4 0 PE1 -NX_P46531 272505 2555 4.95 9 Nucleoplasm;Cell membrane;Nucleus Adams-Oliver syndrome 5;Aortic valve disease 1 1 PE1 -NX_P46597 38453 345 5.05 X NA NA 0 PE1 -NX_P46663 40495 353 9.5 14 Cell membrane NA 7 PE1 -NX_P46695 16903 156 8.61 6 Membrane NA 1 PE1 -NX_P46721 74145 670 5.69 12 Cell membrane;Cell membrane NA 12 PE2 -NX_P46734 39318 347 7.05 17 Nucleoplasm;Cytosol NA 0 PE1 -NX_P46736 36072 316 5.59 X Nucleus;Cytoplasm;Nucleoplasm;Cytoplasm;Nucleus;Spindle pole NA 0 PE1 -NX_P46776 16561 148 11 11 Nucleolus;Nucleus;Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P46777 34363 297 9.73 1 Nucleolus;Cytoplasm Diamond-Blackfan anemia 6 0 PE1 -NX_P46778 18565 160 10.49 13 Cytosol;Endoplasmic reticulum;Nucleolus Hypotrichosis 12 0 PE1 -NX_P46779 15748 137 12.02 19 Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P46781 22591 194 10.66 19 Cytoplasm NA 0 PE1 -NX_P46782 22876 204 9.73 19 Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_P46783 18898 165 10.15 6 Cytoplasm;Nucleolus Diamond-Blackfan anemia 9 0 PE1 -NX_P46821 270634 2468 4.73 5 Cytosol;Dendritic spine;Cytoskeleton;Cytoplasm;Synapse NA 0 PE1 -NX_P46926 32669 289 6.42 5 Cytoplasm NA 0 PE1 -NX_P46934 149114 1319 6.15 15 Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_P46937 54462 504 5 11 Cytoplasm;Cytoplasm;Nucleus;Nucleolus;Nucleus Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 0 PE1 -NX_P46939 394466 3433 5.2 6 Cell membrane;Nucleoplasm;Postsynaptic cell membrane;Cytoskeleton NA 0 PE1 -NX_P46940 189252 1657 6.08 15 Cell junction;Cell membrane;Cell membrane NA 0 PE1 -NX_P46952 32556 286 5.62 2 Cytoplasm NA 0 PE1 -NX_P46976 39384 350 5.27 3 Cytoplasmic vesicle Polyglucosan body myopathy 2;Glycogen storage disease 15 0 PE1 -NX_P46977 80530 705 8.28 11 Endoplasmic reticulum;Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum membrane;Nucleoplasm Congenital disorder of glycosylation 1W 11 PE1 -NX_P47211 38953 349 9.55 18 Cell membrane NA 7 PE1 -NX_P47224 13839 123 5.37 1 NA NA 0 PE1 -NX_P47710 21671 185 5.32 4 Secreted NA 0 PE1 -NX_P47712 85239 749 5.22 1 Cytosol;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_P47736 73361 663 5.55 1 Golgi apparatus membrane NA 0 PE1 -NX_P47755 32949 286 5.57 7 Cytoplasm;Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P47756 31350 277 5.36 1 Cytoplasm;Cytosol;Sarcomere;Cytoskeleton;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_P47775 36730 334 6.63 13 Cell membrane NA 7 PE1 -NX_P47804 31874 291 8.35 10 Membrane Retinitis pigmentosa 44 7 PE1 -NX_P47813 16460 144 5.07 X Cytoplasm NA 0 PE1 -NX_P47869 51326 451 9.17 4 Cytoplasmic vesicle membrane;Cell membrane;Postsynaptic cell membrane NA 4 PE1 -NX_P47870 59150 512 9.39 5 Postsynaptic cell membrane;Cytoplasmic vesicle membrane;Cell membrane NA 4 PE1 -NX_P47871 54009 477 9.01 17 Cell membrane;Golgi apparatus NA 7 PE1 -NX_P47872 50207 440 7.88 2 Cell membrane NA 7 PE1 -NX_P47874 18937 163 5.33 11 Cytoplasm NA 0 PE1 -NX_P47881 34609 315 9.27 17 Cell membrane NA 7 PE2 -NX_P47883 37194 348 6.47 17 Cell membrane NA 7 PE5 -NX_P47884 35227 311 8.29 17 Cell membrane NA 7 PE1 -NX_P47887 36391 323 7.9 17 Cell membrane NA 7 PE2 -NX_P47888 34963 321 7.01 17 Cell membrane NA 7 PE2 -NX_P47890 34924 313 6.53 17 Cell membrane NA 7 PE2 -NX_P47893 35207 321 7.56 17 Cell membrane NA 7 PE2 -NX_P47895 56108 512 6.99 15 Cytosol;Nucleus;Cytoplasm Microphthalmia, isolated, 8 0 PE1 -NX_P47897 87799 775 6.71 3 Cytosol;Cytoplasm;Cytosol Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 0 PE1 -NX_P47898 40255 357 9 7 Cell membrane NA 7 PE2 -NX_P47900 42072 373 9.45 3 Cell membrane NA 7 PE1 -NX_P47901 46971 424 9.21 1 Cell membrane NA 7 PE2 -NX_P47902 28138 265 9.58 5 Nucleus NA 0 PE1 -NX_P47914 17752 159 11.66 3 Nucleolus;Nucleolus;Endoplasmic reticulum;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_P47928 16622 161 8.69 6 Nucleus;Nucleus NA 0 PE1 -NX_P47929 15075 136 7.02 19 Cytoplasm;Nucleus;Secreted NA 0 PE1 -NX_P47944 6509 62 8.26 16 NA NA 0 PE2 -NX_P47972 47042 431 5.45 7 Secreted NA 0 PE1 -NX_P47974 51063 494 8.52 2 Nucleus;Cytoplasm NA 0 PE1 -NX_P47985 29668 274 8.55 19 Cytoplasm;Mitochondrion inner membrane NA 1 PE1 -NX_P47989 146424 1333 7.86 2 Nucleus;Cytoplasm;Secreted;Peroxisome Xanthinuria 1 0 PE1 -NX_P47992 12517 114 10.22 1 Secreted NA 0 PE1 -NX_P48023 31485 281 9.41 1 Cell membrane;Cytoplasmic vesicle lumen;Lysosome lumen;Secreted;Nucleus Autoimmune lymphoproliferative syndrome 1B 1 PE1 -NX_P48029 70523 635 6.02 X Membrane Cerebral creatine deficiency syndrome 1 12 PE1 -NX_P48039 39375 350 9.55 4 Cell membrane NA 7 PE1 -NX_P48047 23277 213 9.97 21 Mitochondrion;Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P48048 44795 391 9.03 11 Cell membrane Bartter syndrome 2, antenatal 2 PE1 -NX_P48050 49500 445 5.82 22 Postsynaptic cell membrane;Cytoplasmic vesicle membrane;Cell membrane NA 2 PE1 -NX_P48051 48451 423 5.24 21 Membrane Keppen-Lubinsky syndrome 2 PE1 -NX_P48052 47030 419 5.68 7 Secreted NA 0 PE1 -NX_P48058 100871 902 8.32 11 Cell membrane;Postsynaptic cell membrane;Dendrite NA 3 PE1 -NX_P48059 37251 325 8.43 2 Focal adhesion;Cell membrane NA 0 PE1 -NX_P48060 30366 266 8.8 12 Membrane NA 1 PE1 -NX_P48061 10666 93 9.92 10 Secreted NA 0 PE1 -NX_P48065 69368 614 5.96 12 Membrane;Golgi apparatus NA 12 PE1 -NX_P48066 70606 632 6.52 3 Membrane NA 12 PE1 -NX_P48067 78260 706 8.21 1 Golgi apparatus;Nucleus;Membrane Glycine encephalopathy with normal serum glycine 12 PE1 -NX_P48145 36103 328 9.05 8 Cell membrane NA 7 PE1 -NX_P48146 36861 333 9.35 20 Cell membrane NA 7 PE1 -NX_P48147 80700 710 5.53 6 Cytoplasm;Cytosol NA 0 PE1 -NX_P48163 64150 572 5.79 6 Cytosol;Nucleoplasm;Cytoplasm;Cell membrane NA 0 PE1 -NX_P48165 48229 433 5.21 1 Cell membrane;Gap junction Cataract 1, multiple types 4 PE1 -NX_P48167 56122 497 9.03 4 Postsynaptic cell membrane;Synapse;Dendrite;Cell membrane;Cytoplasm Hyperekplexia 2 4 PE1 -NX_P48169 61623 554 9.59 4 Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_P48200 105045 963 6.62 15 Cytosol;Cell junction;Cytoplasm NA 0 PE1 -NX_P48201 14693 142 9.57 2 Mitochondrion membrane NA 2 PE2 -NX_P48230 21396 202 4.91 3 Cytosol;Cell membrane;Membrane NA 4 PE1 -NX_P48304 18665 166 5.67 2 Secreted NA 0 PE1 -NX_P48307 26934 235 8.88 7 Secreted NA 0 PE1 -NX_P48357 132494 1165 6.09 1 Cytoplasmic vesicle;Cell membrane;Basolateral cell membrane;Secreted Leptin receptor deficiency 1 PE1 -NX_P48378 79987 723 6.29 19 Cytosol;Nucleus;Cytoplasm;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_P48380 83530 749 5.64 9 Nucleus;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_P48382 65323 616 9.35 1 Nucleus Bare lymphocyte syndrome 2 0 PE1 -NX_P48426 46225 406 6.5 10 Cytoplasm;Nucleus;Cell membrane;Golgi apparatus;Cell membrane;Cytosol NA 0 PE1 -NX_P48431 34310 317 9.74 3 Nucleoplasm;Nucleus Microphthalmia, syndromic, 3 0 PE1 -NX_P48436 56137 509 6.31 17 Nucleus;Nucleoplasm 46,XX sex reversal 2;46,XY sex reversal 10;Campomelic dysplasia 0 PE1 -NX_P48443 50871 463 7.55 1 Nucleus NA 0 PE1 -NX_P48444 57210 511 5.89 11 Golgi apparatus;Cytoplasmic vesicle;Cytoplasm;Golgi apparatus membrane;COPI-coated vesicle membrane Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 0 PE1 -NX_P48448 42635 385 5.65 11 Lipid droplet NA 0 PE2 -NX_P48449 83309 732 6.16 21 Cytosol;Endoplasmic reticulum membrane Cataract 44 0 PE1 -NX_P48454 58129 512 6.51 8 Cytoplasmic vesicle NA 0 PE1 -NX_P48506 72766 637 5.74 6 Nucleus;Nucleolus;Cytosol Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 0 PE1 -NX_P48507 30727 274 5.7 1 Nucleoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_P48509 28295 253 7.45 11 Membrane Nephropathy with pretibial epidermolysis bullosa and deafness 4 PE1 -NX_P48539 6791 62 6.21 21 Nucleolus;Cytosol;Nucleus NA 0 PE1 -NX_P48544 47668 419 5.24 11 Membrane Long QT syndrome 13;Hyperaldosteronism, familial, 3 2 PE1 -NX_P48546 53157 466 9.09 19 Cell membrane NA 7 PE1 -NX_P48547 57942 511 6.13 11 Cytosol;Cell membrane;Nucleus membrane;Nucleus;Cytoplasmic vesicle Epilepsy, progressive myoclonic 7 6 PE1 -NX_P48549 56603 501 8.46 2 Membrane NA 2 PE1 -NX_P48551 57759 515 4.37 21 Cell membrane;Secreted Immunodeficiency 45 1 PE1 -NX_P48552 126942 1158 8.36 21 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_P48553 142189 1259 5.68 21 cis-Golgi network NA 0 PE1 -NX_P48556 39612 350 9.73 19 Cytoplasm;Golgi apparatus;Nucleus speckle;Cytosol NA 0 PE1 -NX_P48594 44854 390 5.86 18 Cytoplasm NA 0 PE1 -NX_P48595 45403 397 5.8 18 Nucleus;Cytoplasm NA 0 PE1 -NX_P48634 228863 2157 9.48 6 Cytoplasm;Nucleus NA 0 PE1 -NX_P48637 52385 474 5.67 20 Nucleus Glutathione synthetase deficiency;Glutathione synthetase deficiency of erythrocytes 0 PE1 -NX_P48643 59671 541 5.45 5 Cytoplasm;Cytosol;Centrosome;Cytoplasm;Nucleolus Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 0 PE1 -NX_P48645 19741 174 9.14 4 Secreted NA 0 PE1 -NX_P48651 55528 473 8.71 8 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleoplasm Lenz-Majewski hyperostotic dwarfism 9 PE1 -NX_P48664 61565 564 9.26 19 Cytoskeleton;Cell membrane NA 8 PE1 -NX_P48668 60025 564 8.09 12 NA Palmoplantar keratoderma, non-epidermolytic, focal or diffuse 0 PE1 -NX_P48681 177439 1621 4.35 1 Cytoskeleton NA 0 PE1 -NX_P48723 51927 471 5.52 21 Microsome;Endoplasmic reticulum NA 0 PE1 -NX_P48728 43946 403 8.87 3 Nucleoplasm;Mitochondrion;Mitochondrion Non-ketotic hyperglycinemia 0 PE1 -NX_P48729 38915 337 9.59 5 Nucleus speckle;Kinetochore;Cytoplasm;Centrosome;Cilium basal body NA 0 PE1 -NX_P48730 47330 415 9.77 17 Nucleolus;Nucleus;Centrosome;Perinuclear region;Cell membrane;Golgi apparatus;Nucleus;Spindle;Cytoplasm Advanced sleep phase syndrome, familial, 2 0 PE1 -NX_P48735 50909 452 8.88 15 Mitochondrion;Mitochondrion D-2-hydroxyglutaric aciduria 2;Glioma 0 PE1 -NX_P48736 126454 1102 7.23 7 Cell membrane;Cytoplasm;Cell membrane NA 0 PE1 -NX_P48739 31540 271 6.41 22 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_P48740 79247 699 5.29 3 Nucleoplasm;Cytosol;Secreted 3MC syndrome 1 0 PE1 -NX_P48741 40244 367 7.72 1 NA NA 0 PE5 -NX_P48742 44808 406 7.86 17 Nucleus NA 0 PE1 -NX_P48745 39162 357 8.12 8 Cytoplasmic vesicle;Secreted;Cytoplasm;Gap junction NA 0 PE1 -NX_P48751 135791 1232 6.01 2 Membrane;Nucleoplasm NA 10 PE1 -NX_P48764 92855 834 7.05 5 Cell membrane;Apical cell membrane Diarrhea 8, secretory sodium, congenital 10 PE1 -NX_P48775 47872 406 6.46 4 Cell membrane;Cytosol NA 0 PE1 -NX_P48788 21339 182 8.87 11 Nucleoplasm;Cytoskeleton Arthrogryposis, distal, 2B 0 PE1 -NX_P48960 91869 835 6.5 19 Cytosol;Cell membrane;Extracellular space NA 7 PE1 -NX_P48995 91212 793 8.33 3 Membrane;Cytoplasmic vesicle NA 6 PE1 -NX_P49005 51289 469 5.35 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_P49006 19529 195 4.68 1 Cell membrane;Cytoplasm;Cytosol;Cell membrane;Cytoskeleton;Nucleoplasm;Membrane NA 0 PE1 -NX_P49019 44478 387 9.09 12 Cell membrane NA 7 PE1 -NX_P49023 64505 591 5.8 12 Cell cortex;Focal adhesion;Cytosol;Cytoskeleton;Focal adhesion NA 0 PE1 -NX_P49069 32953 296 8.2 5 Nucleolus;Cytoplasmic vesicle;Membrane;Nucleus NA 2 PE1 -NX_P49116 65414 596 5.89 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_P49137 45568 400 8.87 1 Nucleus;Centrosome;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P49146 42731 381 6.79 4 Cell membrane NA 7 PE1 -NX_P49184 33893 302 5.45 X Endoplasmic reticulum;Endoplasmic reticulum NA 0 PE1 -NX_P49189 53802 494 5.69 1 Cytoplasm;Cytosol NA 0 PE1 -NX_P49190 62236 550 6.65 2 Cell membrane NA 7 PE1 -NX_P49207 13293 117 11.48 4 Cytosol;Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_P49221 77145 684 6.31 3 NA NA 0 PE1 -NX_P49223 10252 89 6.21 20 Secreted NA 0 PE1 -NX_P49238 40396 355 6.74 3 Cell membrane Macular degeneration, age-related, 12 7 PE1 -NX_P49247 33269 311 8.78 2 Cell membrane;Cytoplasmic vesicle;Nucleoplasm Ribose 5-phosphate isomerase deficiency 0 PE1 -NX_P49257 57549 510 6.3 18 Cytosol;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus membrane;Endoplasmic reticulum membrane Factor V and factor VIII combined deficiency 1 1 PE1 -NX_P49279 59872 550 7.58 2 Membrane NA 12 PE1 -NX_P49281 62266 568 5.72 12 Cell membrane;Mitochondrion outer membrane;Mitochondrion;Early endosome;Endosome membrane Anemia, hypochromic microcytic, with iron overload 1 12 PE1 -NX_P49286 40188 362 9.12 11 Cell membrane NA 7 PE1 -NX_P49321 85238 788 4.26 1 Cytoplasm;Nucleus;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P49326 60221 533 8.41 1 Cytosol;Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum NA 0 PE1 -NX_P49327 273427 2511 6.01 17 Cytosol;Melanosome;Cell membrane;Cytoplasm NA 0 PE1 -NX_P49335 39427 361 7.07 X Nucleus Deafness, X-linked, 2 0 PE1 -NX_P49336 53284 464 8.72 13 Nucleus;Nucleus NA 0 PE1 -NX_P49354 44409 379 4.96 8 Cytosol NA 0 PE1 -NX_P49356 48774 437 5.51 14 Centrosome NA 0 PE1 -NX_P49366 40971 369 5.22 19 Cytosol;Cell membrane;Nucleoplasm NA 0 PE1 -NX_P49368 60534 545 6.1 1 Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_P49406 33535 292 9.55 2 Mitochondrion;Mitochondrion NA 0 PE1 -NX_P49407 47066 418 5.84 11 Cytoplasm;Nucleoplasm;Nucleus;Cell membrane;Clathrin-coated pit;Pseudopodium;Cytoplasmic vesicle NA 0 PE1 -NX_P49411 49542 452 7.26 16 Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 4 0 PE1 -NX_P49418 76257 695 4.58 7 Synaptic vesicle membrane;Cytosol;Cell membrane;Cytoskeleton NA 0 PE1 -NX_P49419 58487 539 8.21 5 Cytosol;Cytosol;Nucleus;Mitochondrion;Mitochondrion Pyridoxine-dependent epilepsy 0 PE1 -NX_P49427 26737 236 4.41 19 Nucleus speckle;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P49441 43998 399 5.15 2 Microtubule organizing center;Cytoplasmic vesicle NA 0 PE1 -NX_P49447 27559 251 8.73 17 Membrane NA 6 PE1 -NX_P49448 61434 558 8.63 X Mitochondrion matrix NA 0 PE1 -NX_P49450 15991 140 11.71 2 Nucleus;Nucleus;Kinetochore;Centromere NA 0 PE1 -NX_P49454 367764 3210 5.03 1 Nucleus matrix;Kinetochore;Spindle;Nucleoplasm;Perinuclear region Stromme syndrome 0 PE1 -NX_P49458 10112 86 7.76 1 Cytoplasm NA 0 PE1 -NX_P49459 17315 152 5.06 X NA Mental retardation, X-linked, syndromic, Nascimento-type 0 PE1 -NX_P49585 41731 367 6.82 3 Nucleus;Cytosol;Membrane Spondylometaphyseal dysplasia with cone-rod dystrophy 0 PE1 -NX_P49588 106810 968 5.34 16 Cytoplasm;Cytosol Charcot-Marie-Tooth disease 2N;Epileptic encephalopathy, early infantile, 29 0 PE1 -NX_P49589 85473 748 6.31 11 Cytoplasm;Cytosol NA 0 PE1 -NX_P49590 56888 506 8.53 5 Cytosol;Mitochondrion matrix Perrault syndrome 2 0 PE1 -NX_P49591 58777 514 6.05 1 Cytoplasm;Cytosol;Nucleus NA 0 PE1 -NX_P49593 49831 454 4.99 22 Cell membrane;Nucleoplasm NA 0 PE1 -NX_P49619 89124 791 6.36 3 Cytoplasmic vesicle;Cytoplasm;Membrane;Cell membrane NA 0 PE1 -NX_P49638 31750 278 7.17 8 Cytoplasm Ataxia with isolated vitamin E deficiency 0 PE1 -NX_P49639 36641 335 8.13 7 Nucleus Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome 0 PE1 -NX_P49640 42440 407 6.41 7 Nucleus;Nucleoplasm NA 0 PE2 -NX_P49641 130539 1150 6.35 15 Golgi apparatus membrane NA 1 PE1 -NX_P49642 49902 420 8.39 12 Cytoplasmic vesicle NA 0 PE1 -NX_P49643 58806 509 7.97 6 Nucleoplasm NA 0 PE1 -NX_P49662 43262 377 5.69 11 Cell membrane;Cytosol;Secreted;Inflammasome;Mitochondrion;Endoplasmic reticulum membrane;Cytosol NA 0 PE1 -NX_P49674 47315 416 9.68 22 Nucleus;Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_P49675 31914 285 9.17 8 Mitochondrion Adrenal hyperplasia 1 0 PE1 -NX_P49682 40660 368 7.92 X Cell membrane NA 7 PE1 -NX_P49683 41121 370 9.43 10 Cell membrane NA 7 PE1 -NX_P49685 40787 360 9.01 3 Cell membrane NA 7 PE1 -NX_P49703 22156 201 9.94 17 Cytoplasmic vesicle;Nucleolus;Golgi apparatus;Cell membrane;Nucleus;Cytoplasm NA 0 PE1 -NX_P49711 82785 727 6.51 16 Nucleoplasm;Centromere;Chromosome;Nucleoplasm Mental retardation, autosomal dominant 21 0 PE1 -NX_P49715 37561 358 7.27 19 Nucleus;Nucleolus;Nucleoplasm;Cytoplasmic vesicle Leukemia, acute myelogenous 0 PE1 -NX_P49716 28467 269 8.44 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_P49720 22949 205 6.14 17 Nucleus;Cytoplasm NA 0 PE1 -NX_P49721 22836 201 6.52 1 Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_P49736 101896 904 5.34 3 Nucleus;Cytosol;Nucleoplasm Deafness, autosomal dominant, 70 0 PE1 -NX_P49746 104201 956 4.43 1 NA NA 0 PE1 -NX_P49747 82860 757 4.36 19 Extracellular matrix Multiple epiphyseal dysplasia 1;Pseudoachondroplasia 0 PE1 -NX_P49748 70390 655 8.92 17 Mitochondrion inner membrane;Mitochondrion;Nucleus;Nucleolus Acyl-CoA dehydrogenase very long-chain deficiency 0 PE1 -NX_P49750 219985 1951 6.14 14 Nucleus speckle;Nucleoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_P49753 53218 483 8.7 14 Mitochondrion NA 0 PE1 -NX_P49754 98566 854 5.56 7 Endosome membrane;Late endosome;Lysosome;trans-Golgi network;Early endosome;Clathrin-coated vesicle NA 0 PE1 -NX_P49755 24976 219 6.98 14 Golgi apparatus;Melanosome;Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Secretory vesicle membrane;Cell membrane;trans-Golgi network membrane NA 1 PE1 -NX_P49756 100185 843 6.06 14 Nucleus speckle;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_P49757 70804 651 8.79 14 Cytosol;Cell junction;Membrane NA 0 PE1 -NX_P49758 54423 472 7.05 14 Cytoplasm;Cytosol;Cell membrane;Nucleus;Membrane NA 0 PE1 -NX_P49759 57291 484 9.05 2 Nucleus membrane;Nucleus;Nucleoplasm NA 0 PE1 -NX_P49760 60090 499 9.69 1 Nucleus;Nucleus;Nucleus speckle;Nucleoplasm NA 0 PE1 -NX_P49761 73515 638 9.94 15 Nucleus;Cytoskeleton;Nucleoplasm;Cytoplasm;Acrosome;Nucleus speckle NA 0 PE1 -NX_P49763 24789 221 8.52 14 Cytosol;Mitochondrion;Secreted;Nucleoplasm NA 0 PE1 -NX_P49765 21602 207 8.46 11 Secreted NA 0 PE1 -NX_P49767 46883 419 7.77 4 Secreted Lymphedema, hereditary, 1D 0 PE1 -NX_P49768 52668 467 5.18 14 Endoplasmic reticulum membrane;Cell junction;Golgi apparatus membrane;Golgi apparatus;Nucleus;Cytoplasmic granule;Cell membrane Frontotemporal dementia;Acne inversa, familial, 3;Alzheimer disease 3;Cardiomyopathy, dilated 1U 9 PE1 -NX_P49770 38990 351 5.77 14 Cell membrane;Focal adhesion;Nucleoplasm Leukodystrophy with vanishing white matter 0 PE1 -NX_P49771 26416 235 7.6 19 Cell membrane;Secreted NA 1 PE1 -NX_P49773 13802 126 6.43 5 Cytosol;Cytoplasm;Nucleus;Nucleus;Cell membrane Neuromyotonia and axonal neuropathy, autosomal recessive 0 PE1 -NX_P49788 33285 294 8.74 3 Membrane;Endoplasmic reticulum;Golgi apparatus NA 1 PE1 -NX_P49789 16858 147 6.54 3 Nucleolus;Cell membrane;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_P49790 153938 1475 8.97 6 Nucleus membrane;Nucleus;Nuclear pore complex;Nucleus membrane;Nucleus;Nucleus membrane NA 0 PE1 -NX_P49792 358199 3224 5.86 2 Nucleus;Nucleus membrane;Nuclear pore complex;Nucleus envelope Encephalopathy, acute, infection-induced, 3 0 PE1 -NX_P49795 24636 217 5.43 20 Cytoplasmic vesicle;Nucleolus;Membrane NA 0 PE1 -NX_P49796 132336 1198 5.9 9 Cytosol;Cytoplasm;Nucleus;Cell membrane;Mitochondrion;Nucleoplasm NA 0 PE1 -NX_P49798 23256 205 8.69 1 Endoplasmic reticulum Schizophrenia 0 PE1 -NX_P49802 57668 495 8.33 1 Cytoplasm;Nucleus;Cell membrane;Membrane;Cytosol NA 0 PE1 -NX_P49810 50140 448 4.51 1 Endoplasmic reticulum membrane;Golgi apparatus membrane Cardiomyopathy, dilated 1V;Alzheimer disease 4 8 PE1 -NX_P49815 200608 1807 6.98 16 Cytosol;Membrane;Cytoplasm Focal cortical dysplasia 2;Tuberous sclerosis 2;Lymphangioleiomyomatosis 0 PE1 -NX_P49821 50817 464 8.51 11 Mitochondrion;Mitochondrion inner membrane;Cytosol Leigh syndrome;Mitochondrial complex I deficiency 0 PE1 -NX_P49840 50981 483 8.95 19 Cytosol NA 0 PE1 -NX_P49841 46744 420 8.98 3 Cell membrane;Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_P49842 40916 368 9.8 6 Nucleus;Nucleus speckle NA 0 PE1 -NX_P49848 72668 677 8.83 7 Nucleus;Cytosol;Nucleus Alazami-Yuan syndrome 0 PE1 -NX_P49862 27525 253 8.82 19 Cell membrane;Secreted NA 0 PE1 -NX_P49863 28882 264 9.48 5 Cytoplasmic granule;Secreted NA 0 PE1 -NX_P49888 35126 294 6.18 4 Cytoplasm NA 0 PE1 -NX_P49895 28924 249 8.9 1 Endoplasmic reticulum membrane NA 1 PE1 -NX_P49901 12767 116 8.49 1 Cytoplasm;Mitochondrion membrane NA 0 PE1 -NX_P49902 64970 561 5.75 10 Cytoplasm Spastic paraplegia 45, autosomal recessive 0 PE1 -NX_P49903 42911 392 5.65 10 Cell membrane;Nucleus membrane;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P49908 43174 381 8.08 5 Nucleus;Golgi apparatus;Secreted NA 0 PE1 -NX_P49910 55771 485 6.74 6 Nucleus;Cytoskeleton;Nucleus speckle NA 0 PE1 -NX_P49913 19301 170 9.48 3 Secreted NA 0 PE1 -NX_P49914 23256 203 7.71 15 Cytosol;Cytoplasm NA 0 PE1 -NX_P49915 76715 693 6.42 3 Cytosol;Cytoplasm NA 0 PE1 -NX_P49916 112907 1009 9.17 17 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_P49917 103971 911 8.17 13 Nucleus;Nucleoplasm;Cytosol;Cell membrane Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation;LIG4 syndrome 0 PE1 -NX_P49918 32177 316 5.39 11 Nucleus;Nucleus;Cytosol;Nucleoplasm Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies;Beckwith-Wiedemann syndrome 0 PE1 -NX_P49959 80593 708 5.61 11 Nucleus;Telomere;Nucleoplasm Ataxia-telangiectasia-like disorder 1 0 PE1 -NX_P49961 57965 510 5.93 10 Membrane;Cytoskeleton Spastic paraplegia 64, autosomal recessive 2 PE1 -NX_P50052 41184 363 9.31 X Cell membrane NA 7 PE1 -NX_P50053 32523 298 5.91 2 Cytosol Fructosuria 0 PE1 -NX_P50120 15707 134 5.27 3 Golgi apparatus;Cytoplasm NA 0 PE1 -NX_P50135 33295 292 5.18 2 Cytoplasm Mental retardation, autosomal recessive 51 0 PE1 -NX_P50148 42142 359 5.48 9 Nucleus speckle;Nucleus;Membrane;Nucleus membrane;Cytosol;Cell membrane Capillary malformations, congenital;Sturge-Weber syndrome 0 PE1 -NX_P50150 8389 75 6.55 1 Cell membrane NA 0 PE1 -NX_P50151 7205 68 7.71 9 Cell membrane NA 0 PE1 -NX_P50213 39592 366 6.46 15 Mitochondrion;Mitochondrion NA 0 PE1 -NX_P50219 40569 401 7.27 7 Nucleus;Nucleolus;Cytosol;Nucleus Currarino syndrome 0 PE1 -NX_P50221 27997 254 7.79 17 Mitochondrion;Nucleolus;Nucleus;Cytoplasm Klippel-Feil syndrome 2, autosomal recessive 0 PE1 -NX_P50222 33594 304 7.87 7 Nucleus speckle;Nucleus NA 0 PE1 -NX_P50225 34165 295 6.16 16 Cytoplasm NA 0 PE1 -NX_P50226 34310 295 7.75 16 Cytoplasm NA 0 PE1 -NX_P50238 8533 77 9.05 14 Nucleus speckle;Centrosome;Cytosol NA 0 PE1 -NX_P50281 65894 582 7.63 14 Cytoskeleton;Cytosol;Cytoplasm;Membrane;Melanosome Winchester syndrome 1 PE1 -NX_P50336 50765 477 8.43 1 Mitochondrion inner membrane;Mitochondrion;Cytosol Variegate porphyria 0 PE1 -NX_P50391 42195 375 8.46 10 Cell membrane NA 7 PE2 -NX_P50395 50663 445 6.11 10 Cytoplasm;Membrane NA 0 PE1 -NX_P50402 28994 254 5.29 X Nucleus envelope;Nucleus inner membrane;Nucleus outer membrane;Nucleus membrane;Endoplasmic reticulum Emery-Dreifuss muscular dystrophy 1, X-linked 1 PE1 -NX_P50406 46954 440 9.27 1 Cell membrane NA 7 PE1 -NX_P50416 88368 773 8.85 11 Mitochondrion;Mitochondrion outer membrane Carnitine palmitoyltransferase 1A deficiency 2 PE1 -NX_P50440 48455 423 8.26 15 Mitochondrion;Cytoplasm;Mitochondrion inner membrane Cerebral creatine deficiency syndrome 3 0 PE1 -NX_P50443 81662 739 8.67 5 Cytoplasmic vesicle;Cell membrane Atelosteogenesis 2;Diastrophic dysplasia;Achondrogenesis 1B;Multiple epiphyseal dysplasia 4 8 PE1 -NX_P50452 42767 374 5.41 18 Cytosol;Cytoplasm;Nucleus Peeling skin syndrome 5 0 PE1 -NX_P50453 42404 376 5.61 6 Cytoplasm NA 0 PE1 -NX_P50454 46441 418 8.75 11 Endoplasmic reticulum lumen;Endoplasmic reticulum Osteogenesis imperfecta 10 0 PE1 -NX_P50458 44373 406 8.81 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_P50461 20969 194 8.89 11 Cytoplasm;Cytoskeleton;Z line;Nucleus;Sarcomere Cardiomyopathy, dilated 1M;Cardiomyopathy, familial hypertrophic 12 0 PE1 -NX_P50479 35398 330 8.07 5 Cytoskeleton;Cytosol;Cytoskeleton;Nucleus;Cytoplasm;Perinuclear region;Lamellipodium;Dendritic spine;Early endosome membrane;Recycling endosome membrane;Synaptosome NA 0 PE1 -NX_P50502 41332 369 5.18 22 Cytoplasm NA 0 PE1 -NX_P50539 26062 228 6.57 10 Nucleolus;Nucleus;Nucleus Prostate cancer 0 PE1 -NX_P50542 70865 639 4.43 12 Cytosol;Cytoplasm;Golgi apparatus;Peroxisome membrane Rhizomelic chondrodysplasia punctata 5;Peroxisome biogenesis disorder 2A;Peroxisome biogenesis disorder 2B 0 PE1 -NX_P50548 58703 548 6.85 19 Nucleoplasm;Nucleus Chitayat syndrome;Craniosynostosis 4 0 PE1 -NX_P50549 55131 477 5.7 7 Nucleoplasm;Nucleus Ewing sarcoma 0 PE1 -NX_P50552 39830 380 9.05 19 Cytoplasm;Focal adhesion;Lamellipodium membrane;Filopodium membrane;Cell junction;Cell membrane;Cytoplasm;Cytoskeleton;Focal adhesion;Tight junction NA 0 PE1 -NX_P50553 25454 236 8.93 12 Nucleus NA 0 PE1 -NX_P50570 98064 870 7.04 19 Cytoplasm;Cytoskeleton;Cytosol;Cell junction;Clathrin-coated pit;Postsynaptic density;Synapse;Midbody;Phagocytic cup;Phagosome membrane;Golgi apparatus Myopathy, centronuclear, 1;Charcot-Marie-Tooth disease 2M;Lethal congenital contracture syndrome 5;Charcot-Marie-Tooth disease, dominant, intermediate type, B 0 PE1 -NX_P50579 52892 478 5.57 12 Cytoplasm;Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_P50583 16829 147 5.23 9 Nucleoplasm NA 0 PE1 -NX_P50591 32509 281 7.01 3 Cytoskeleton;Membrane NA 1 PE1 -NX_P50607 55651 506 8.88 11 Cytoplasm;Nucleus;Secreted;Cell membrane;Microtubule organizing center;Centrosome;Nucleolus Retinal dystrophy and obesity 0 PE1 -NX_P50613 39038 346 8.66 5 Nucleus;Cytoplasm;Perinuclear region NA 0 PE1 -NX_P50616 38155 345 6.45 17 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoplasm NA 0 PE1 -NX_P50747 80760 726 5.4 21 Cytoplasm;Mitochondrion;Cytosol Holocarboxylase synthetase deficiency 0 PE1 -NX_P50748 250749 2209 5.67 12 Cytosol;Spindle;Cell membrane;Cytoplasm;Nucleus;Kinetochore NA 0 PE1 -NX_P50749 37790 326 8.93 20 Nucleoplasm;Cytosol;Kinetochore;Cytoplasm;Nucleus NA 0 PE1 -NX_P50750 42778 372 8.97 9 Cytosol;Nucleoplasm;PML body;Cytoplasm;Nucleus NA 0 PE1 -NX_P50851 319108 2863 5.39 4 Lysosome;trans-Golgi network;Endoplasmic reticulum;Cell membrane;Golgi apparatus;Cytosol Immunodeficiency, common variable, 8, with autoimmunity 1 PE1 -NX_P50876 32890 292 5.91 2 Cell membrane;Cytoplasmic vesicle membrane;Cytoplasmic vesicle NA 1 PE1 -NX_P50895 67405 628 5.53 19 Membrane;Nucleolus NA 1 PE1 -NX_P50897 34193 306 6.07 1 Secreted;Lysosome Ceroid lipofuscinosis, neuronal, 1 0 PE1 -NX_P50914 23432 215 10.94 3 Cytoplasm NA 0 PE1 -NX_P50990 59621 548 5.42 21 Cytoplasm;Cytoskeleton;Cytosol;Cytoplasm;Centrosome;Cilium basal body;Nucleus NA 0 PE1 -NX_P50991 57924 539 7.96 2 Cytosol;Cilium basal body;Centrosome;Melanosome;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P50993 112265 1020 5.47 1 Membrane;Cell membrane Alternating hemiplegia of childhood 1;Migraine, familial hemiplegic, 2 10 PE1 -NX_P50995 54390 505 7.53 10 Cytoplasm;Cytosol;Nucleus envelope;Nucleoplasm;Spindle;Nucleoplasm;Cytoplasm;Melanosome NA 0 PE1 -NX_P51003 82843 745 6.96 14 Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_P51114 69721 621 5.84 3 Cytoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_P51116 74223 673 5.95 17 Cytoplasm;Cytosol NA 0 PE1 -NX_P51124 27545 257 10.16 19 Secreted;Cytoplasmic granule NA 0 PE1 -NX_P51148 23483 216 8.64 17 Melanosome;Cell membrane;Endosome;Early endosome membrane NA 0 PE1 -NX_P51149 23490 207 6.39 3 Lysosome;Phagosome membrane;Late endosome membrane;Lysosome membrane;Melanosome membrane;Autophagosome membrane;Lipid droplet;Endosome membrane Charcot-Marie-Tooth disease 2B 0 PE1 -NX_P51151 22838 201 5.26 X Cytosol;Nucleoplasm;Golgi apparatus membrane;Late endosome;Phagosome membrane;Phagosome;Cytoplasmic vesicle membrane;Melanosome;Cell membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_P51153 22774 203 9.27 1 Cytosol;Lamellipodium;Recycling endosome membrane;trans-Golgi network membrane;Cell membrane;Cell membrane;Cytoplasmic vesicle membrane;Tight junction NA 0 PE1 -NX_P51157 24841 221 5.7 4 Cell membrane;Cilium basal body Cone-rod dystrophy 18 0 PE1 -NX_P51159 24868 221 5.09 15 Membrane;Lysosome;Melanosome;Late endosome Griscelli syndrome 2 0 PE1 -NX_P51160 99147 858 5.5 10 Cell membrane Achromatopsia 5;Cone dystrophy 4 0 PE1 -NX_P51161 14371 128 6.29 5 Cytoplasm;Membrane NA 0 PE1 -NX_P51164 33367 291 6.98 13 Cell membrane NA 1 PE1 -NX_P51168 72659 640 5.89 16 Apical cell membrane;Cytoplasmic vesicle membrane Bronchiectasis with or without elevated sweat chloride 1;Liddle syndrome;Pseudohypoaldosteronism 1, autosomal recessive 2 PE1 -NX_P51170 74270 649 7.47 16 Cell membrane;Apical cell membrane;Nucleolus;Nucleoplasm Liddle syndrome;Bronchiectasis with or without elevated sweat chloride 3 2 PE1 -NX_P51172 70215 638 8.06 1 Cell membrane;Cell membrane;Cytoskeleton NA 2 PE1 -NX_P51178 85665 756 6.23 3 Cytoskeleton Nail disorder, non-syndromic congenital, 3 0 PE1 -NX_P51397 11165 102 9.3 5 Cytoplasm NA 0 PE1 -NX_P51398 45566 398 9.02 1 Mitochondrion;Mitochondrion;Mitochondrion;Nucleoplasm NA 0 PE1 -NX_P51449 58195 518 8.88 1 Nucleus;Nucleus;Nucleus Immunodeficiency 42 0 PE1 -NX_P51451 57706 505 7.98 8 Cell membrane Maturity-onset diabetes of the young 11 0 PE1 -NX_P51452 20478 185 7.66 17 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_P51460 14502 131 9.18 19 Secreted Cryptorchidism 0 PE1 -NX_P51504 31224 273 9.04 3 Nucleus NA 0 PE1 -NX_P51508 75960 661 8.96 X Nucleus NA 0 PE1 -NX_P51511 75807 669 7.03 16 Nucleoplasm;Cell membrane;Cytosol;Membrane NA 1 PE1 -NX_P51512 69521 607 8.72 8 Extracellular matrix;Cytosol;Cell membrane;Cell surface;Cytoplasmic vesicle NA 1 PE1 -NX_P51513 52056 510 8.93 14 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_P51522 59710 516 9.38 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_P51523 85457 738 9.05 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_P51530 120415 1060 7.95 10 Mitochondrion;Mitochondrion;Nucleus Seckel syndrome 8;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 0 PE1 -NX_P51531 181279 1590 6.76 9 Cytoskeleton;Nucleoplasm;Nucleus;Cytoplasmic vesicle Schizophrenia;Nicolaides-Baraitser syndrome 0 PE1 -NX_P51532 184646 1647 7.83 19 Nucleoplasm;Nucleus Rhabdoid tumor predisposition syndrome 2;Coffin-Siris syndrome 4 0 PE1 -NX_P51553 42794 393 8.75 X Mitochondrion;Mitochondrion;Mitochondrion NA 0 PE1 -NX_P51570 42272 392 6.04 17 Cytosol;Golgi apparatus Galactosemia II 0 PE1 -NX_P51571 18999 173 5.76 X Endoplasmic reticulum membrane Congenital disorder of glycosylation 1Y 1 PE1 -NX_P51572 27992 246 8.44 X Endoplasmic reticulum;Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane Deafness, dystonia, and cerebral hypomyelination 3 PE1 -NX_P51575 44980 399 8.75 17 Membrane NA 2 PE1 -NX_P51580 28180 245 5.85 6 Cytoplasm NA 0 PE1 -NX_P51582 40963 365 8.92 X Cell membrane NA 7 PE1 -NX_P51587 384202 3418 6.29 13 Nucleoplasm;Nucleus;Centrosome;Cytosol Breast-ovarian cancer, familial, 2;Glioma 3;Pancreatic cancer 2;Breast cancer;Fanconi anemia complementation group D1 0 PE1 -NX_P51589 57611 502 8.76 1 Microsome membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_P51606 48831 427 5.95 X Nucleus;Cytoplasm NA 0 PE1 -NX_P51608 52441 486 9.95 X Nucleus;Nucleus;Nucleus Autism, X-linked 3;Rett syndrome;Mental retardation, X-linked, syndromic, Lubs type;Mental retardation, X-linked, syndromic, 13;Encephalopathy, neonatal severe, due to MECP2 mutations;Angelman syndrome 0 PE1 -NX_P51610 208732 2035 7.32 X Cytoplasm;Nucleus;Nucleoplasm;Mitochondrion Mental retardation, X-linked 3 0 PE1 -NX_P51617 76537 712 6.18 X Mitochondrion;Cytosol;Lipid droplet;Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_P51636 18291 162 5.06 7 Cell membrane;Golgi apparatus;Caveola;Nucleus;Cytoplasm;Golgi apparatus membrane;Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_P51648 54848 485 7.98 17 Endoplasmic reticulum membrane Sjoegren-Larsson syndrome 1 PE1 -NX_P51649 57215 535 8.62 6 Mitochondrion;Mitochondrion Succinic semialdehyde dehydrogenase deficiency 0 PE1 -NX_P51654 65563 580 5.96 X Extracellular space;Cell membrane;Cell membrane Simpson-Golabi-Behmel syndrome 1 0 PE1 -NX_P51659 79686 736 8.96 5 Peroxisome;Peroxisome D-bifunctional protein deficiency;Perrault syndrome 1 0 PE1 -NX_P51665 37025 324 6.29 16 Nucleoplasm NA 0 PE1 -NX_P51668 16602 147 6.94 10 Cytoplasm NA 0 PE1 -NX_P51671 10732 97 9.98 17 Secreted NA 0 PE1 -NX_P51674 31210 278 5.17 4 Axon;Cell membrane;Dendritic spine;Filopodium NA 4 PE1 -NX_P51677 41044 355 8.49 3 Cell membrane NA 7 PE1 -NX_P51679 41403 360 7.47 3 Cell membrane NA 7 PE1 -NX_P51681 40524 352 9.21 3 Cell membrane Diabetes mellitus, insulin-dependent, 22 7 PE1 -NX_P51684 42494 374 9.23 6 Cell membrane;Cell surface NA 7 PE1 -NX_P51685 40844 355 8.66 3 Cell membrane NA 7 PE1 -NX_P51686 42016 369 8.54 3 Cell membrane NA 7 PE1 -NX_P51687 60283 545 5.72 12 Mitochondrion intermembrane space Isolated sulfite oxidase deficiency 0 PE1 -NX_P51688 56695 502 6.46 17 Lysosome Mucopolysaccharidosis 3A 0 PE1 -NX_P51689 64860 593 6.78 X Cytoplasmic vesicle;Lipid droplet;Lysosome NA 0 PE1 -NX_P51690 65669 589 6.48 X Golgi apparatus;Golgi stack Chondrodysplasia punctata 1, X-linked recessive 0 PE1 -NX_P51692 89866 787 5.71 17 Nucleus;Cytoplasm Growth hormone insensitivity with immunodeficiency 0 PE1 -NX_P51693 72176 650 5.54 19 Cell membrane;Cytoplasm NA 1 PE1 -NX_P51784 109817 963 5.28 X Nucleoplasm;Nucleus;Cytoplasm;Chromosome NA 0 PE1 -NX_P51786 58291 506 8.83 X Nucleus NA 0 PE1 -NX_P51787 74699 676 9.88 11 Cell membrane;Cytoplasmic vesicle membrane;Early endosome;Membrane raft;Endoplasmic reticulum;Basolateral cell membrane Jervell and Lange-Nielsen syndrome 1;Diabetes mellitus, non-insulin-dependent;Short QT syndrome 2;Long QT syndrome 1;Atrial fibrillation, familial, 3 6 PE1 -NX_P51788 98535 898 8.7 3 Cytosol;Cell membrane Juvenile absence epilepsy 2;Juvenile myoclonic epilepsy 8;Epilepsy, idiopathic generalized 11;Leukoencephalopathy with ataxia 10 PE1 -NX_P51790 90966 818 5.88 4 Endoplasmic reticulum;Cytosol;Early endosome membrane;Late endosome membrane;Secretory vesicle membrane;Golgi apparatus membrane NA 10 PE1 -NX_P51793 84917 760 6.43 X Endoplasmic reticulum membrane;Late endosome membrane;Early endosome membrane;Cytoplasmic vesicle Mental retardation, X-linked 49 10 PE1 -NX_P51795 83147 746 6.37 X Golgi apparatus;Cell membrane;Cytosol;Golgi apparatus membrane;Endosome membrane;Cell membrane Nephrolithiasis 2;Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis;Nephrolithiasis 1;Hypophosphatemic rickets, X-linked recessive 10 PE1 -NX_P51797 97289 869 6.39 1 Cytosol;Cell membrane;Endosome membrane NA 10 PE1 -NX_P51798 88679 805 8.66 16 Lysosome membrane;Nucleoplasm Osteopetrosis, autosomal recessive 2;Osteopetrosis, autosomal dominant 2;Osteopetrosis, autosomal recessive 4 10 PE1 -NX_P51800 75285 687 7.62 1 Membrane Bartter syndrome 4B, neonatal, with sensorineural deafness 10 PE1 -NX_P51801 75446 687 8.2 1 Cell membrane Bartter syndrome 3;Bartter syndrome 4B, neonatal, with sensorineural deafness 11 PE1 -NX_P51805 207703 1871 7.06 X Cell junction;Cytoplasmic vesicle;Cell membrane;Cell membrane NA 1 PE1 -NX_P51808 13062 116 5.37 X Nucleus;Cytoskeleton;Kinetochore NA 0 PE1 -NX_P51809 24935 220 8.86 X Cytoplasmic vesicle;Secretory vesicle membrane;trans-Golgi network membrane;Late endosome membrane;Lysosome membrane;Endoplasmic reticulum membrane;Phagosome membrane;Synaptosome NA 1 PE1 -NX_P51810 43878 404 7.53 X Lysosome membrane;Apical cell membrane;Melanosome membrane Albinism ocular 1;Nystagmus congenital X-linked 6 7 PE1 -NX_P51811 50902 444 8.6 X Nucleoplasm;Membrane;Cytoplasmic vesicle;Mitochondrion McLeod syndrome 10 PE1 -NX_P51812 83736 740 6.41 X Cytoplasm;Nucleus;Nucleus;Nucleolus;Cytosol Mental retardation, X-linked 19;Coffin-Lowry syndrome 0 PE1 -NX_P51813 78011 675 8.7 X Cell membrane;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P51814 93728 821 9.06 X Nucleoplasm;Nucleus NA 0 PE1 -NX_P51815 59298 510 9.35 X Nucleoplasm;Golgi apparatus;Nucleus NA 0 PE2 -NX_P51816 144771 1311 8.23 X Nucleus speckle Mental retardation, X-linked, associated with fragile site FRAXE 0 PE1 -NX_P51817 40896 358 6.37 X Cytoplasm;Nucleus;Nucleus NA 0 PE1 -NX_P51825 131422 1210 9.26 4 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_P51826 133476 1226 8.35 2 Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_P51828 120308 1080 8.49 16 Cytosol;Membrane NA 12 PE1 -NX_P51841 124850 1108 6.87 X Membrane NA 1 PE1 -NX_P51843 51718 470 8.47 X Cytoplasm;Nucleoplasm;Nucleus Adrenal hypoplasia, congenital;46,XY sex reversal 2 0 PE1 -NX_P51854 65333 596 5.56 X Cytoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P51857 37377 326 7.14 7 Nucleoplasm;Cytosol;Cytoplasm Congenital bile acid synthesis defect 2 0 PE1 -NX_P51858 26788 240 4.7 1 Nucleus;Cytoplasm;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P51861 31279 262 4.35 X Centrosome;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_P51864 21181 188 8.2 X Cell membrane NA 0 PE5 -NX_P51878 49736 434 9.28 11 NA NA 0 PE1 -NX_P51884 38429 338 6.16 12 Extracellular matrix NA 0 PE1 -NX_P51888 43810 382 9.47 1 Extracellular matrix NA 0 PE1 -NX_P51911 33170 297 9.14 19 Cytoskeleton NA 0 PE1 -NX_P51946 37643 323 6.73 5 Nucleus;Nucleoplasm NA 0 PE1 -NX_P51948 35823 309 5.79 14 Nucleus;Nucleoplasm NA 0 PE1 -NX_P51955 51763 445 9.03 1 Centrosome;Nucleus;Nucleolus;Cytoplasm;Kinetochore;Centrosome;Centromere;Nucleus;Spindle pole Retinitis pigmentosa 67 0 PE1 -NX_P51956 57705 506 6.72 13 Cytoskeleton;Cytoplasm;Axon NA 0 PE1 -NX_P51957 94597 841 8.04 3 Nucleoplasm;Cilium;Cytoplasm NA 0 PE1 -NX_P51959 34074 295 9.06 5 Nucleus;Nucleoplasm NA 0 PE1 -NX_P51965 21404 193 8.77 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_P51970 20105 172 7.58 9 Mitochondrion;Mitochondrion inner membrane;Mitochondrion intermembrane space NA 0 PE1 -NX_P51991 39595 378 9.1 2 Nucleus;Nucleus NA 0 PE1 -NX_P51993 41860 359 8.92 19 Golgi apparatus;Golgi stack membrane NA 1 PE1 -NX_P52179 187627 1685 6.5 18 M line NA 0 PE1 -NX_P52198 25369 227 8.66 17 Acrosome membrane NA 0 PE1 -NX_P52209 53140 483 6.8 1 Cytoskeleton;Cytosol;Cytoplasm NA 0 PE1 -NX_P52272 77516 730 8.84 19 Nucleus;Nucleoplasm;Nucleolus NA 0 PE1 -NX_P52292 57862 529 5.25 17 Cytoplasm;Nucleus;Nucleoplasm;Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_P52294 60222 538 4.94 3 Nucleus;Cytosol;Nucleus;Nucleus;Cytoplasm;Cytoplasm NA 0 PE1 -NX_P52298 18001 156 8.34 3 Nucleus;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P52306 66317 607 5.17 4 Cytosol NA 0 PE1 -NX_P52333 125099 1124 6.77 19 Cytosol;Cytoplasm;Endomembrane system Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative 0 PE1 -NX_P52429 63927 567 8.02 17 Membrane;Nucleus;Membrane;Cytoplasm;Cytosol Nephrotic syndrome 7;Hemolytic uremic syndrome atypical 7 2 PE1 -NX_P52434 17143 150 4.5 3 Nucleus;Nucleolus NA 0 PE1 -NX_P52435 13293 117 5.63 7 Nucleus NA 0 PE1 -NX_P52564 37492 334 7.01 17 Nucleus;Cytoplasm;Cytoskeleton;Cytosol;Nucleus NA 0 PE1 -NX_P52565 23207 204 5.03 17 Cytosol;Cytoplasm Nephrotic syndrome 8 0 PE1 -NX_P52566 22988 201 5.1 12 Cytosol;Cytosol NA 0 PE1 -NX_P52569 71673 658 7.01 8 Cell junction;Cell membrane;Cell membrane NA 14 PE1 -NX_P52594 58260 562 8.82 2 Cytoplasmic vesicle;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_P52597 45672 415 5.38 10 Nucleoplasm NA 0 PE1 -NX_P52630 97916 851 5.34 12 Cytosol;Cell membrane;Cytoplasm;Nucleus Immunodeficiency 44 0 PE1 -NX_P52655 41514 376 4.4 14 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P52657 12457 109 6.26 15 Nucleoplasm;Nucleus NA 0 PE1 -NX_P52701 152786 1360 6.5 2 Nucleus;Nucleoplasm;Nucleus;Chromosome;Golgi apparatus;Cytoplasmic vesicle Endometrial cancer;Mismatch repair cancer syndrome;Colorectal cancer;Hereditary non-polyposis colorectal cancer 5 0 PE1 -NX_P52732 119159 1056 5.47 10 Cytosol;Cytoplasm;Spindle pole Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 0 PE1 -NX_P52735 101289 878 6.67 9 Cytoplasmic vesicle NA 0 PE1 -NX_P52736 73388 654 9.26 20 Nucleus;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_P52737 62784 540 9.32 19 Nucleus;Nucleolus NA 0 PE1 -NX_P52738 52996 457 8.95 12 Nucleus NA 0 PE1 -NX_P52739 71422 623 5.1 5 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_P52740 80623 706 8.77 19 Cytoskeleton;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P52741 48480 427 8.96 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_P52742 75261 658 8.49 19 Nucleus;Cytosol NA 0 PE1 -NX_P52743 24115 207 9.77 19 Nucleus NA 0 PE5 -NX_P52744 30592 262 9.63 7 Nucleus;Cytosol NA 0 PE1 -NX_P52746 187880 1687 8.24 2 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_P52747 68896 638 5.64 11 Cytoplasmic vesicle;Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_P52756 92154 815 5.94 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_P52757 53924 468 7.04 7 Membrane NA 0 PE1 -NX_P52758 14494 137 8.73 8 Mitochondrion;Peroxisome;Cytoplasm;Nucleus NA 0 PE1 -NX_P52788 41268 366 4.87 X Cytoplasm;Nucleus;Cytosol X-linked syndromic mental retardation Snyder-Robinson type 0 PE1 -NX_P52789 102380 917 5.71 2 Mitochondrion;Mitochondrion outer membrane NA 0 PE1 -NX_P52790 99025 923 5.23 5 NA NA 0 PE1 -NX_P52797 26350 238 8.85 1 Cell membrane NA 0 PE1 -NX_P52798 22386 201 6.89 1 Secreted;Cell membrane;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_P52799 36923 333 9.04 13 Cytosol;Nucleoplasm;Membrane NA 1 PE1 -NX_P52803 26297 228 5.97 5 Cytoplasmic vesicle;Cell membrane;Caveola;Cytosol NA 0 PE1 -NX_P52815 21348 198 9.05 17 Mitochondrion;Mitochondrion NA 0 PE1 -NX_P52823 27621 247 8.28 8 Secreted NA 0 PE1 -NX_P52824 101155 942 7.35 4 Cytoplasm;Cell membrane;Cytoskeleton;Nucleus;Nucleus speckle NA 0 PE1 -NX_P52848 100868 882 8.07 5 Golgi apparatus membrane Mental retardation, autosomal recessive 46 1 PE1 -NX_P52849 100875 883 8.81 10 Cytosol;Golgi apparatus membrane NA 1 PE1 -NX_P52888 78840 689 5.72 19 Cytoplasm;Cytosol NA 0 PE1 -NX_P52895 36735 323 7.13 10 Cytoplasm 46,XY sex reversal 8 0 PE1 -NX_P52907 32923 286 5.45 1 Cytoskeleton;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_P52926 11832 109 10.63 12 Nucleus;Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_P52943 22493 208 9.01 14 Cell membrane;Nucleus;Nucleolus NA 0 PE1 -NX_P52945 30771 283 7.1 13 Cytosol;Nucleoplasm;Nucleus Maturity-onset diabetes of the young 4;Diabetes mellitus, non-insulin-dependent;Pancreatic agenesis 1 0 PE1 -NX_P52948 197579 1817 5.97 11 Nuclear pore complex;Nucleus membrane;Nucleoplasm;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_P52951 37348 348 8.43 2 Nucleus;Nucleoplasm NA 0 PE1 -NX_P52952 34918 324 9.46 5 Cytosol;Nucleus;Nucleoplasm Conotruncal heart malformations;Hypoplastic left heart syndrome 2;Ventricular septal defect 3;Atrial septal defect 7, with or without atrioventricular conduction defects;Tetralogy of Fallot;Hypothyroidism, congenital, non-goitrous, 5 0 PE1 -NX_P52954 30221 281 6.47 10 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_P52961 36335 327 8.53 11 Sarcoplasmic reticulum membrane NA 0 PE2 -NX_P53004 33428 296 6.06 7 Cytoplasm;Cytosol Hyperbiliverdinemia 0 PE1 -NX_P53007 34013 311 9.91 22 Mitochondrion inner membrane Combined D-2- and L-2-hydroxyglutaric aciduria 6 PE1 -NX_P53041 56879 499 5.88 19 Cell membrane;Cytosol;Nucleus;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_P53350 68255 603 9.09 16 Centrosome;Spindle;Midbody;Nucleus;Kinetochore;Centrosome NA 0 PE1 -NX_P53355 160046 1430 6.37 9 Cytoplasm;Cytoskeleton;Centrosome NA 0 PE1 -NX_P53365 37856 341 5.72 11 Nucleus;Nucleolus;Golgi apparatus NA 0 PE1 -NX_P53367 41738 373 6.24 4 Nucleus;Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_P53370 35679 316 8.15 4 Cytoplasm;Nucleus;Mitochondrion;Cytoskeleton NA 0 PE1 -NX_P53384 34534 320 5.15 16 Cytosol;Microtubule organizing center;Centriole;Cytoplasm;Nucleus;Cell projection;Cilium axoneme;Cilium basal body;Centrosome NA 0 PE1 -NX_P53396 120839 1101 6.95 17 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol NA 0 PE1 -NX_P53420 164038 1690 8.9 2 Basement membrane Hematuria, benign familial;Alport syndrome, autosomal recessive 0 PE1 -NX_P53539 35928 338 4.78 19 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P53567 16408 150 9.77 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_P53582 43215 386 6.75 4 Cytoplasm;Nucleoplasm;Cell membrane;Cytosol NA 0 PE1 -NX_P53597 36250 346 9.01 2 Cell membrane;Mitochondrion;Mitochondrion Mitochondrial DNA depletion syndrome 9 0 PE1 -NX_P53602 43405 400 6.8 16 Cytosol;Cell junction Porokeratosis 7, multiple types 0 PE1 -NX_P53609 42368 377 6.37 5 Nucleoplasm;Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P53611 36924 331 4.89 1 Cytoplasmic vesicle NA 0 PE1 -NX_P53618 107142 953 5.72 11 Golgi apparatus;Golgi apparatus;Cytosol;Cytoplasmic vesicle;Cytoplasm;Golgi apparatus membrane;COPI-coated vesicle membrane;Cell membrane;Endoplasmic reticulum-Golgi intermediate compartment NA 0 PE1 -NX_P53621 138346 1224 7.7 1 Cytosol;COPI-coated vesicle membrane;Secreted;Nucleoplasm;Cytoplasm;Golgi apparatus membrane;Golgi apparatus Autoimmune interstitial lung, joint, and kidney disease 0 PE1 -NX_P53634 51854 463 6.53 11 Endoplasmic reticulum;Cytoplasmic vesicle;Lysosome Papillon-Lefevre syndrome;Periodontititis, aggressive, 1;Haim-Munk syndrome 0 PE1 -NX_P53667 72585 647 6.53 7 Nucleus;Nucleus speckle;Cytosol;Cytoplasm;Lamellipodium NA 0 PE1 -NX_P53671 72232 638 6.83 22 Endoplasmic reticulum;Cytoplasm;Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_P53672 22096 197 5.94 2 NA Cataract 42 0 PE1 -NX_P53673 22374 196 5.83 22 NA Cataract 23, multiple types 0 PE1 -NX_P53674 28023 252 8.59 22 NA Cataract 17, multiple types 0 PE1 -NX_P53675 187030 1640 5.57 22 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Coated pit NA 0 PE1 -NX_P53677 46977 418 7.15 8 Golgi apparatus;Cytoplasmic vesicle membrane NA 0 PE1 -NX_P53680 17018 142 5.82 19 Cell membrane;Coated pit Hypocalciuric hypercalcemia, familial 3 0 PE1 -NX_P53701 30602 268 6.25 X Mitochondrion;Mitochondrion inner membrane;Membrane Linear skin defects with multiple congenital anomalies 1 0 PE1 -NX_P53708 117474 1063 5.37 10 Cell membrane;Membrane Renal hypodysplasia/aplasia 1 1 PE1 -NX_P53778 41940 367 5.98 22 Nucleus speckle;Cytoplasm;Nucleus;Mitochondrion;Cytosol NA 0 PE1 -NX_P53779 52585 464 6.33 4 Nucleoplasm;Cytoplasm;Membrane;Mitochondrion;Nucleus NA 0 PE1 -NX_P53794 79694 718 7.01 21 Cell membrane;Membrane;Cytosol NA 12 PE1 -NX_P53801 20324 180 9.14 21 Golgi apparatus;Cell membrane;Cytoplasm;Nucleus membrane;Nucleus;Nucleoplasm;Nucleus;Cytoplasm;Membrane NA 1 PE1 -NX_P53803 7004 58 9.27 8 Cytosol;Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_P53804 229869 2025 7.53 21 Cytoplasm;Nucleus;Nucleolus;Nucleus;Cytosol NA 0 PE1 -NX_P53805 28079 252 5.09 21 Cytosol NA 0 PE1 -NX_P53814 99059 917 9.2 22 Nucleoplasm;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_P53816 17937 162 7.76 11 Membrane;Peroxisome membrane;Cytoplasm;Perinuclear region NA 1 PE1 -NX_P53985 53944 500 8.91 1 Cell membrane;Cell junction;Cell membrane Familial hyperinsulinemic hypoglycemia 7;Symptomatic deficiency in lactate transport;Monocarboxylate transporter 1 deficiency 12 PE1 -NX_P53990 39751 364 5.22 16 Cytoplasmic vesicle;Nucleus envelope;Midbody;Centrosome;Cytoplasmic vesicle NA 0 PE1 -NX_P53992 118325 1094 6.71 10 Golgi apparatus;Cytoplasm;Cytoplasmic vesicle;COPII-coated vesicle membrane;Endoplasmic reticulum membrane;Cytosol NA 0 PE1 -NX_P53999 14395 127 9.6 5 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_P54098 139562 1239 6.46 15 Mitochondrion;Mitochondrion nucleoid Sensory ataxic neuropathy dysarthria and ophthalmoparesis;Mitochondrial DNA depletion syndrome 4A;Leigh syndrome;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1;Mitochondrial DNA depletion syndrome 4B;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1;Spinocerebellar ataxia with epilepsy 0 PE1 -NX_P54105 26215 237 3.97 11 Nucleus;Cytosol;Cytoskeleton;Cytosol;Nucleus;Cytoskeleton NA 0 PE1 -NX_P54107 28481 249 5.57 6 NA NA 0 PE1 -NX_P54108 27630 245 8.09 6 Secreted NA 0 PE1 -NX_P54132 159000 1417 7.33 15 Nucleus;Nucleus;Cytosol Bloom syndrome 0 PE1 -NX_P54136 75379 660 6.26 5 Nucleoplasm;Cytosol;Cytoplasm;Cytosol Leukodystrophy, hypomyelinating, 9 0 PE1 -NX_P54198 111835 1017 8.4 22 Nucleoplasm;Nucleus;PML body NA 0 PE1 -NX_P54219 56257 525 5.6 8 Synaptic vesicle membrane;Endoplasmic reticulum membrane;Cytoplasmic vesicle membrane NA 12 PE1 -NX_P54252 41781 364 4.81 14 Cell membrane;Nucleus;Nucleolus;Nucleus matrix Spinocerebellar ataxia 3 0 PE1 -NX_P54253 86923 815 8.49 6 Nucleus;Cytoplasm;Cytosol;Nucleolus;Nucleus Spinocerebellar ataxia 1 0 PE1 -NX_P54257 75506 671 4.68 17 Endoplasmic reticulum;Cytoplasm;Axon;Nucleolus;Cytosol;Cytoskeleton;Lysosome;Synaptic vesicle;Mitochondrion;Nucleus;Autophagosome NA 0 PE1 -NX_P54259 125414 1190 9.01 12 Nucleoplasm;Nucleus;Perinuclear region;Cell junction Dentatorubral-pallidoluysian atrophy 0 PE1 -NX_P54274 50246 439 5.99 8 Spindle;Nucleus;Nucleolus;Nucleus;Telomere NA 0 PE1 -NX_P54277 105830 932 6.23 2 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_P54278 95797 862 6.4 7 Nucleus Mismatch repair cancer syndrome;Hereditary non-polyposis colorectal cancer 4 0 PE1 -NX_P54284 54532 484 5.93 12 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_P54289 124568 1103 5.12 7 Cytoplasm;Membrane NA 1 PE1 -NX_P54296 164896 1465 5.82 8 Mitochondrion;M line NA 0 PE1 -NX_P54315 51848 467 5.47 10 Secreted NA 0 PE1 -NX_P54317 51947 469 5.27 10 Secreted NA 0 PE1 -NX_P54368 25406 228 7.12 19 Cytoplasmic vesicle;Microtubule organizing center NA 0 PE1 -NX_P54577 59143 528 6.61 1 Cytoplasm;Cytosol Charcot-Marie-Tooth disease, dominant, intermediate type, C 0 PE1 -NX_P54578 56069 494 5.2 18 Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_P54619 37579 331 6.42 12 Cytosol;Nucleoplasm NA 0 PE1 -NX_P54646 62320 552 7.65 1 Cytoplasm;Nucleus;Nucleus speckle;Golgi apparatus NA 0 PE1 -NX_P54652 70021 639 5.56 14 Spindle NA 0 PE1 -NX_P54687 42966 386 5.17 12 Cytoplasm NA 0 PE1 -NX_P54707 115511 1039 6.12 13 Membrane NA 10 PE1 -NX_P54709 31513 279 8.58 3 Cell membrane;Melanosome;Cell membrane NA 1 PE1 -NX_P54710 7283 66 7.88 11 Mitochondrion;Membrane Hypomagnesemia 2 1 PE1 -NX_P54725 39609 363 4.56 19 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_P54727 43171 409 4.79 9 Cytosol;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P54750 61252 535 5.72 2 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P54753 110330 998 5.95 3 Dendrite;Cell membrane NA 1 PE1 -NX_P54756 114803 1037 6.53 4 Endoplasmic reticulum;Cell membrane;Dendrite;Axon NA 1 PE1 -NX_P54760 108270 987 6.48 7 Cell membrane Hydrops fetalis, non-immune, and/or atrial septal defect 1 PE1 -NX_P54762 109885 984 6.03 3 Cytosol;Endoplasmic reticulum;Cell membrane;Cell membrane;Early endosome membrane;Dendrite NA 1 PE1 -NX_P54764 109860 986 6.21 2 Cell membrane;Axon;Dendrite;Postsynaptic density;Early endosome NA 1 PE1 -NX_P54792 73254 670 6.02 22 Cytoplasm NA 0 PE5 -NX_P54793 65940 590 6.78 X Cytosol;Secreted NA 0 PE1 -NX_P54802 82266 743 6.2 17 Lysosome Charcot-Marie-Tooth disease 2V;Mucopolysaccharidosis 3B 0 PE1 -NX_P54803 77063 685 6.17 14 Lysosome Leukodystrophy, globoid cell 0 PE1 -NX_P54819 26478 239 7.67 1 Mitochondrion intermembrane space Reticular dysgenesis 0 PE1 -NX_P54821 27296 245 9.48 1 Nucleus;Nucleolus;Nucleus;Nucleus Agnathia-otocephaly complex 0 PE1 -NX_P54826 35693 345 5.35 9 Nucleus speckle;Cell membrane NA 0 PE1 -NX_P54829 63538 565 4.82 11 Endoplasmic reticulum;Endoplasmic reticulum membrane NA 2 PE1 -NX_P54840 80989 703 6.35 12 NA Glycogen storage disease 0 0 PE1 -NX_P54845 25940 237 7.73 14 Cytosol;Nucleoplasm;Cytoplasm;Nucleus Retinitis pigmentosa 27;Retinal degeneration autosomal recessive clumped pigment type 0 PE1 -NX_P54849 17563 157 8.18 12 Nucleoplasm;Membrane NA 4 PE1 -NX_P54851 19199 167 7.55 16 Cytosol;Nucleoplasm;Apical cell membrane;Golgi apparatus membrane;Cell membrane;Membrane raft;Cytoplasm;Nucleus Nephrotic syndrome 10 4 PE1 -NX_P54852 18429 163 8.18 19 Cell membrane;Golgi apparatus;Nucleus;Membrane NA 4 PE1 -NX_P54855 61036 530 8.98 4 Microsome membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_P54868 56635 508 8.4 1 Mitochondrion;Mitochondrion 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency 0 PE1 -NX_P54886 87302 795 6.66 10 Mitochondrion inner membrane;Mitochondrion Spastic paraplegia 9B, autosomal recessive;Cutis laxa, autosomal recessive, 3A;Spastic paraplegia 9A, autosomal dominant;Cutis laxa, autosomal dominant, 3 0 PE1 -NX_P54920 33233 295 5.23 19 Cell membrane NA 0 PE1 -NX_P54922 39507 357 6.05 3 Nucleus;Nucleus membrane NA 0 PE1 -NX_P55000 11186 103 5.21 8 Secreted Mal de Meleda 0 PE1 -NX_P55001 20826 183 4.86 1 Extracellular matrix NA 0 PE1 -NX_P55008 16703 147 5.97 6 Phagocytic cup;Ruffle membrane;Cytoskeleton NA 0 PE1 -NX_P55010 49223 431 5.41 14 Cell membrane;Cytosol NA 0 PE1 -NX_P55011 131447 1212 5.98 5 Cell membrane;Cytoplasmic vesicle;Membrane NA 12 PE1 -NX_P55017 113139 1021 8.1 16 Cell membrane Gitelman syndrome 12 PE1 -NX_P55036 40737 377 4.68 1 NA NA 0 PE1 -NX_P55039 40746 364 9.02 17 Cytoplasmic vesicle;Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_P55040 33949 296 8.77 8 Cell membrane NA 0 PE1 -NX_P55042 33245 308 9.06 16 Golgi apparatus;Cell membrane;Cell membrane;Nucleoplasm NA 0 PE1 -NX_P55055 50974 460 7.9 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_P55056 14553 127 9.19 19 Secreted NA 0 PE1 -NX_P55058 54739 493 6.53 20 Secreted NA 0 PE1 -NX_P55060 110417 971 5.51 20 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_P55061 26538 237 8.79 12 Endoplasmic reticulum membrane NA 6 PE1 -NX_P55064 28292 265 8.82 12 Cell membrane;Apical cell membrane Keratoderma, palmoplantar, Bothnian type 6 PE1 -NX_P55072 89322 806 5.14 9 Cytosol;Nucleus;Nucleoplasm;Cytosol;Endoplasmic reticulum Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1;Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;Charcot-Marie-Tooth disease 2Y 0 PE1 -NX_P55073 33947 304 6.25 14 Cell membrane;Endosome membrane NA 1 PE1 -NX_P55075 26525 233 10.44 10 Secreted Hypogonadotropic hypogonadism 6 with or without anosmia 0 PE1 -NX_P55081 51958 439 4.95 15 Cell membrane;Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P55082 40165 362 4.87 5 Cell membrane;Nucleoplasm;Golgi apparatus NA 1 PE1 -NX_P55083 28648 255 5.38 17 Endoplasmic reticulum;Extracellular matrix NA 0 PE1 -NX_P55084 51294 474 9.45 2 Mitochondrion;Mitochondrion;Mitochondrion outer membrane;Mitochondrion inner membrane;Endoplasmic reticulum Mitochondrial trifunctional protein deficiency 0 PE1 -NX_P55085 44126 397 9.66 5 Cell membrane;Cell membrane NA 7 PE1 -NX_P55087 34830 323 7.59 18 Membrane;Cell membrane;Cell junction NA 6 PE1 -NX_P55089 13458 124 11.7 2 Secreted;Endoplasmic reticulum NA 0 PE1 -NX_P55103 38238 352 6.66 12 Secreted NA 0 PE1 -NX_P55107 53122 478 9.58 10 Secreted NA 0 PE1 -NX_P55145 20700 182 8.94 3 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_P55157 99351 894 8.61 4 Endoplasmic reticulum;Cytosol Abetalipoproteinemia 0 PE1 -NX_P55160 128153 1127 6.39 12 Cell membrane;Cytosol;Cell membrane;Cytoplasm NA 1 PE1 -NX_P55196 206804 1824 6.06 6 Cytoplasm;Cell membrane;Nucleoplasm;Cell junction;Adherens junction;Cell membrane NA 0 PE1 -NX_P55197 113320 1068 8.49 10 Nucleus;Nucleoplasm NA 0 PE1 -NX_P55198 112076 1093 8.93 17 Nucleus;Nucleus NA 0 PE1 -NX_P55199 68265 621 9.43 19 Cajal body;Nucleus;Nucleus speckle NA 0 PE1 -NX_P55201 137499 1214 8.16 3 Cell membrane;Cytosol;Nucleus;Cytoplasm Intellectual developmental disorder with dysmorphic facies and ptosis 0 PE1 -NX_P55209 45374 391 4.36 12 Cytoplasm;Nucleus;Melanosome;Cytoskeleton NA 0 PE1 -NX_P55210 34277 303 5.72 10 Cytoplasm NA 0 PE1 -NX_P55211 46281 416 5.73 1 Mitochondrion NA 0 PE1 -NX_P55212 33310 293 6.46 4 Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_P55259 59480 537 5.08 16 Cell membrane;Secreted NA 0 PE1 -NX_P55263 40545 362 6.24 10 Cytosol;Nucleus;Cytoplasm;Nucleoplasm Hypermethioninemia due to adenosine kinase deficiency 0 PE1 -NX_P55265 136066 1226 8.86 1 Cytoplasm;Nucleus;Nucleus;Nucleolus;Nucleolus Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria 0 PE1 -NX_P55268 195981 1798 6.07 3 Basement membrane;Cytoplasmic vesicle;Cytosol Pierson syndrome;Nephrotic syndrome 5 with or without ocular abnormalities 0 PE1 -NX_P55273 17700 166 5.69 19 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P55283 100281 916 4.65 20 Cell membrane;Cell membrane NA 1 PE1 -NX_P55285 88309 790 4.77 5 Cell membrane NA 1 PE1 -NX_P55286 88253 799 4.55 16 Cell membrane;Cell membrane NA 1 PE1 -NX_P55287 87965 796 4.75 16 Cell membrane NA 1 PE1 -NX_P55289 88332 794 4.64 5 Cytoplasmic vesicle;Cell membrane NA 1 PE1 -NX_P55290 78287 713 4.8 16 Cell membrane;Cell membrane NA 0 PE1 -NX_P55291 88916 814 4.81 16 Golgi apparatus;Cell membrane;Cytosol Mental retardation, autosomal dominant 3 1 PE1 -NX_P55316 52352 489 8.99 14 Nucleus Rett syndrome congenital variant 0 PE1 -NX_P55317 49148 472 8.93 14 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P55318 37140 350 7.01 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_P55327 24327 224 4.79 8 Golgi apparatus;Cytosol NA 0 PE1 -NX_P55344 19674 173 9.64 19 Membrane Cataract, multiple types 19 4 PE1 -NX_P55345 49042 433 5.03 21 Cytosol;Nucleoplasm;Cytoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_P55347 47607 436 4.79 21 Nucleus;Nucleoplasm NA 0 PE1 -NX_P55735 35541 322 5.22 3 Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Nuclear pore complex;Nucleoplasm;COPII-coated vesicle membrane;Lysosome membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_P55769 14174 128 8.72 22 Nucleolus;Nucleus;Nucleolus NA 0 PE1 -NX_P55771 36310 341 9.39 14 Nucleoplasm;Nucleus;Mitochondrion Tooth agenesis, selective, 3 0 PE1 -NX_P55773 13411 120 9.21 17 Secreted NA 0 PE1 -NX_P55774 9849 89 9.06 17 Secreted NA 0 PE1 -NX_P55786 103276 919 5.49 17 Cytoplasm;Cytosol;Cytosol;Nucleus NA 0 PE1 -NX_P55789 23449 205 7.57 16 Mitochondrion;Cytoplasm;Mitochondrion intermembrane space;Secreted;Cytosol Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay 0 PE1 -NX_P55795 49264 449 5.89 X Nucleoplasm Mental retardation, X-linked, syndromic, Bain type 0 PE1 -NX_P55808 19723 180 6.95 X Cell membrane NA 1 PE2 -NX_P55809 56158 520 7.13 5 Mitochondrion matrix;Mitochondrion Succinyl-CoA:3-oxoacid CoA transferase deficiency 0 PE1 -NX_P55822 26086 239 4.09 21 Cytosol;Cell membrane NA 0 PE1 -NX_P55851 33229 309 9.74 11 Mitochondrion inner membrane NA 6 PE1 -NX_P55854 11637 103 5.32 21 Cytoplasm;Nucleus;PML body NA 0 PE1 -NX_P55884 92482 814 4.89 7 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_P55895 59241 527 5.56 11 Nucleus Omenn syndrome;Combined cellular and humoral immune defects with granulomas;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive 0 PE1 -NX_P55899 39743 365 6.09 19 Cell membrane NA 1 PE1 -NX_P55916 34216 312 9.31 11 Mitochondrion inner membrane;Cytosol;Cell membrane;Nucleoplasm Obesity 6 PE1 -NX_P55957 21995 195 5.27 22 Cytosol;Mitochondrion membrane;Mitochondrion membrane;Cytoplasm;Mitochondrion membrane NA 0 PE1 -NX_P56134 10918 94 9.7 7 Cytoplasm;Nucleoplasm;Mitochondrion;Mitochondrion inner membrane;Mitochondrion NA 1 PE1 -NX_P56159 51456 465 8.3 10 Cell membrane;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_P56177 27320 255 9.71 2 Cell junction;Nucleus;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_P56178 31540 289 9.31 7 Nucleus;Nucleus Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 0 PE1 -NX_P56179 19708 175 9.95 7 Nucleus;Nucleus NA 0 PE1 -NX_P56180 64322 551 8.81 21 Membrane NA 3 PE1 -NX_P56181 11941 108 9.72 21 Mitochondrion inner membrane;Mitochondrion NA 0 PE1 -NX_P56182 52839 461 9.39 21 Nucleolus;Nucleolus NA 0 PE1 -NX_P56192 101116 900 5.82 12 Cytosol;Cytosol Interstitial lung and liver disease;Charcot-Marie-Tooth disease 2U 0 PE1 -NX_P56199 130848 1179 5.91 5 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_P56202 42120 376 7.14 11 NA NA 0 PE1 -NX_P56211 12323 112 9.07 15 Cytoplasm NA 0 PE1 -NX_P56270 48608 477 9.21 16 Nucleus;Nucleus NA 0 PE1 -NX_P56277 7747 68 8.5 X Nucleus;Mitochondrion;Mitochondrion;Cytoplasm NA 0 PE1 -NX_P56278 12600 107 5.07 X Cell membrane;Nucleoplasm NA 0 PE1 -NX_P56279 13460 114 4.98 14 Endoplasmic reticulum;Cytoplasm;Nucleus;Microsome NA 0 PE1 -NX_P56282 59537 527 5.95 14 Nucleus;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P56373 44289 397 7.88 11 Membrane NA 2 PE1 -NX_P56377 18615 157 5.39 X Clathrin-coated pit;Cytoplasmic vesicle membrane;Golgi apparatus Pettigrew syndrome 0 PE1 -NX_P56378 6662 58 10.08 14 Cytoplasm;Mitochondrion;Mitochondrion;Mitochondrion membrane;Nucleolus NA 1 PE1 -NX_P56381 5780 51 9.93 20 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex V deficiency, nuclear 3 0 PE1 -NX_P56385 7933 69 9.34 4 Mitochondrion;Mitochondrion inner membrane;Mitochondrion NA 0 PE1 -NX_P56470 35941 323 9.21 19 NA NA 0 PE1 -NX_P56524 119040 1084 6.49 2 Cytoplasm;Cytosol;Nucleoplasm;Nucleus Brachydactyly-mental retardation syndrome 0 PE1 -NX_P56537 26599 245 4.56 20 Nucleoplasm;Cytoplasm;Nucleolus NA 0 PE1 -NX_P56539 17259 151 5.5 3 Cell membrane;Cytoplasmic vesicle;Sarcolemma;Caveola;Cell membrane;Golgi apparatus membrane Cardiomyopathy, familial hypertrophic;Long QT syndrome 9;Limb-girdle muscular dystrophy 1C;HyperCKmia;Myopathy, distal, Tateyama type;Sudden infant death syndrome;Rippling muscle disease 2 0 PE1 -NX_P56545 48945 445 6.47 10 Nucleus;Synapse;Cytosol NA 0 PE1 -NX_P56555 12955 118 7.76 21 NA NA 0 PE2 -NX_P56556 17871 154 10.15 22 Mitochondrion inner membrane NA 0 PE1 -NX_P56557 17936 158 5.23 21 Golgi apparatus;Nucleolus;Membrane NA 4 PE1 -NX_P56559 21487 192 9.17 2 Cytosol;Cell membrane;Filopodium;Cell membrane;Cytoplasm NA 0 PE1 -NX_P56589 42140 373 8.37 6 Nucleoplasm;Peroxisome membrane;Peroxisome Peroxisome biogenesis disorder 10A;Peroxisome biogenesis disorder 10B;Peroxisome biogenesis disorder complementation group 12 2 PE1 -NX_P56597 24236 212 5.89 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_P56645 131888 1201 6.44 1 Cytosol;Cytoplasm;Nucleus Advanced sleep phase syndrome, familial, 3 0 PE1 -NX_P56693 49911 466 6.19 22 Nucleoplasm;Mitochondrion outer membrane;Cytoplasm;Nucleus Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease;Waardenburg syndrome 2E;Waardenburg syndrome 4C 0 PE1 -NX_P56696 77101 695 9.6 1 Basal cell membrane Deafness, autosomal dominant, 2A 6 PE1 -NX_P56703 39645 355 7.47 17 Extracellular matrix Tetraamelia syndrome, autosomal recessive 0 PE1 -NX_P56704 39365 352 8.52 1 Extracellular matrix NA 0 PE1 -NX_P56705 39052 351 8.92 1 Cytoplasmic vesicle;Extracellular matrix Mullerian aplasia and hyperandrogenism;46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs 0 PE1 -NX_P56706 39327 349 9.11 22 Extracellular matrix NA 0 PE1 -NX_P56715 240661 2156 5.55 8 Cilium axoneme;Photoreceptor outer segment Retinitis pigmentosa 1 0 PE1 -NX_P56730 97067 875 8.41 4 Nucleus;Cytoskeleton;Secreted Mental retardation, autosomal recessive 1 0 PE1 -NX_P56746 24356 228 5.61 7 Cell membrane;Tight junction NA 4 PE1 -NX_P56747 23292 220 8.32 16 Tight junction;Cell membrane NA 4 PE1 -NX_P56748 24845 225 9 21 Cell membrane;Tight junction NA 4 PE1 -NX_P56749 27110 244 8.8 7 Tight junction;Cell membrane NA 4 PE1 -NX_P56750 24603 224 9.8 21 Tight junction;Cell membrane NA 4 PE1 -NX_P56817 55764 501 5.31 11 Cell membrane;Membrane raft;Endosome;Membrane;trans-Golgi network;Endoplasmic reticulum;Cell surface;Cytoplasmic vesicle membrane NA 1 PE1 -NX_P56851 17584 147 6.51 14 Secreted NA 0 PE1 -NX_P56856 27856 261 8.39 3 Cell membrane;Tight junction NA 4 PE1 -NX_P56880 23515 219 6.98 6 Tight junction;Cell membrane NA 4 PE2 -NX_P56915 28150 257 8.86 14 Nucleus;Nucleus;Nucleus Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 0 PE1 -NX_P56937 38206 341 8.35 1 Cell membrane NA 1 PE1 -NX_P56945 93372 870 5.41 16 Cytosol;Focal adhesion;Cytoplasm;Cell membrane NA 0 PE1 -NX_P56962 33403 302 6.14 9 Cytosol;COPII-coated vesicle membrane;Cytosol;Endoplasmic reticulum membrane;Nucleolus;Smooth endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Autophagosome membrane NA 2 PE1 -NX_P56975 77901 720 7.79 10 Cell membrane;Secreted;Cell membrane NA 1 PE1 -NX_P57052 32179 281 8.87 21 Nucleus speckle;Nucleoplasm;Nucleoplasm NA 0 PE1 -NX_P57053 13944 126 10.37 21 Nucleus;Chromosome NA 0 PE1 -NX_P57054 18059 158 8.8 21 Membrane;Cytoplasmic vesicle Epileptic encephalopathy, early infantile, 55 2 PE1 -NX_P57055 20368 190 5.98 21 Nucleus NA 0 PE1 -NX_P57057 57648 533 8.61 21 Nucleus;Endoplasmic reticulum membrane NA 12 PE1 -NX_P57058 79686 714 9.24 21 Nucleoplasm;Cell membrane NA 0 PE1 -NX_P57059 84902 783 6.81 21 Cytosol;Nucleus;Cytoplasm Epileptic encephalopathy, early infantile, 30 0 PE1 -NX_P57060 36332 319 5.61 21 NA NA 0 PE1 -NX_P57071 169269 1507 8.59 21 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_P57073 47314 446 6.49 16 Nucleus;Nucleus NA 0 PE1 -NX_P57075 74123 661 7.77 21 Cytoplasm;Nucleus NA 0 PE1 -NX_P57076 33224 290 6.99 21 Cytoplasm;Cytoplasm;Cilium basal body;Cytoplasm Ciliary dyskinesia, primary, 26 0 PE1 -NX_P57077 27248 242 4.81 21 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P57078 91611 832 6.69 21 Membrane;Cytoplasm Popliteal pterygium syndrome, lethal type 0 PE1 -NX_P57081 45490 412 6.71 21 Nucleus;Nucleus;Cytosol NA 0 PE1 -NX_P57082 60204 545 7.34 17 Cytoplasmic vesicle;Nucleus Ischiocoxopodopatellar syndrome 0 PE1 -NX_P57086 19082 179 9.73 20 Nucleus;Cytosol;Nucleus;Cytoskeleton;Nucleus NA 0 PE1 -NX_P57087 33207 298 9.23 21 Cytosol;Cell membrane;Tight junction NA 1 PE1 -NX_P57088 27978 247 9.76 4 Nucleus envelope;Endoplasmic reticulum membrane;Melanosome NA 3 PE1 -NX_P57103 103010 927 5.01 14 Endoplasmic reticulum membrane;Cell membrane;Perikaryon;Dendrite;Dendritic spine;Sarcolemma;Sarcoplasm;Cell junction;Mitochondrion outer membrane;Perinuclear region NA 11 PE1 -NX_P57105 15928 145 5.86 14 Mitochondrion outer membrane;Mitochondrion NA 1 PE1 -NX_P57678 120037 1058 5.7 17 Nucleus;Cytosol;Cytoplasm;Gem;Nucleolus;Nucleus NA 0 PE1 -NX_P57679 111990 992 6.29 4 Nucleoplasm;Cilium membrane;Cilium;Cilium basal body;Cell membrane;Cytosol Acrofacial dysostosis, Weyers type;Ellis-van Creveld syndrome 1 PE1 -NX_P57682 38829 345 9.44 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_P57721 39465 371 8.22 21 Cytoplasm NA 0 PE1 -NX_P57723 41482 403 8.42 3 Cytosol;Cytoplasm NA 0 PE1 -NX_P57727 49405 454 5.95 21 Endoplasmic reticulum membrane Deafness, autosomal recessive, 8 1 PE1 -NX_P57729 23712 211 7.65 11 Nucleus;Mitochondrion;Cell membrane;Melanosome;Phagosome;Phagosome membrane;Melanosome membrane NA 0 PE1 -NX_P57730 10138 90 6.27 11 NA NA 0 PE1 -NX_P57735 23496 213 5.72 1 Cytosol;Cytoplasmic vesicle;Pseudopodium membrane;Cell membrane;Cell junction NA 0 PE1 -NX_P57737 100605 925 5.51 16 Cytoplasmic vesicle;Cytosol;trans-Golgi network;Golgi apparatus membrane NA 0 PE1 -NX_P57738 11341 103 5.51 3 Cytosol;Membrane NA 2 PE1 -NX_P57739 24549 230 8.47 X Tight junction;Nucleoplasm;Cell junction;Cell membrane NA 4 PE1 -NX_P57740 106374 925 5.28 12 Nucleoplasm;Centrosome;Nucleus membrane;Nuclear pore complex;Kinetochore Ovarian dysgenesis 1;Nephrotic syndrome 11 0 PE1 -NX_P57764 52801 484 5 8 Cytosol;Inflammasome;Cell membrane;Nucleoplasm;Secreted NA 0 PE1 -NX_P57768 39167 344 4.59 8 Early endosome membrane;Late endosome membrane;Cytoplasm;Lysosome;Cytoplasmic vesicle NA 0 PE1 -NX_P57771 20917 180 9.36 1 Cell membrane;Membrane;Perikaryon;Nucleus;Dendrite NA 0 PE1 -NX_P57772 65305 596 8.61 3 Nucleus;Cytosol;Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_P57773 58842 515 8.67 1 Cell membrane;Gap junction NA 4 PE2 -NX_P57775 46337 412 7.54 10 Golgi apparatus Split-hand/foot malformation 3 0 PE1 -NX_P57789 59765 538 8.9 14 Membrane NA 4 PE1 -NX_P57796 30433 275 5.27 11 Cytoplasm Cone-rod synaptic disorder, congenital non-progressive 0 PE1 -NX_P58004 54494 480 5.57 1 Cytoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_P58005 57291 492 5.84 11 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_P58012 38772 376 9.26 3 Cytoskeleton;Nucleus;Nucleus Premature ovarian failure 3;Blepharophimosis, ptosis, and epicanthus inversus syndrome 0 PE1 -NX_P58062 9232 85 7.52 5 Secreted NA 0 PE1 -NX_P58107 555621 5090 5.44 8 Hemidesmosome;Cell projection;Apicolateral cell membrane;Basolateral cell membrane;Cell junction;Cytoskeleton;Tight junction;Cytoskeleton NA 0 PE1 -NX_P58166 38561 350 9.49 12 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P58170 35424 312 8.76 17 Cell membrane NA 7 PE3 -NX_P58173 35414 313 8.64 6 Cell membrane NA 7 PE2 -NX_P58180 34958 307 9.1 17 Cell membrane NA 7 PE2 -NX_P58181 35535 314 8.87 11 Cell membrane NA 7 PE2 -NX_P58182 34813 307 8.79 6 Cell membrane NA 7 PE2 -NX_P58215 83166 753 6.4 2 Extracellular space;Cytoplasm;Nucleus NA 0 PE1 -NX_P58294 11715 105 9.01 1 Secreted NA 0 PE1 -NX_P58304 39411 361 7.11 14 Nucleus Microphthalmia, isolated, 2;Microphthalmia with cataracts and iris abnormalities;Microphthalmia, isolated, with coloboma, 3 0 PE1 -NX_P58317 44694 390 8.37 19 Centrosome;Nucleus;Nucleolus;Nucleoplasm NA 0 PE1 -NX_P58335 53666 489 7.42 4 Secreted;Cell membrane;Endoplasmic reticulum membrane Hyaline fibromatosis syndrome 1 PE1 -NX_P58340 30627 268 9.46 3 Cytoplasm;Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_P58397 177676 1594 8.25 5 Extracellular matrix NA 0 PE1 -NX_P58400 50424 472 8.19 2 Cell membrane;Synapse NA 1 PE1 -NX_P58401 70927 666 5.96 11 Membrane NA 1 PE1 -NX_P58417 31082 271 8.86 7 Secreted NA 0 PE1 -NX_P58418 25719 232 8.8 3 Cell membrane Retinitis pigmentosa 61;Usher syndrome 3A 4 PE1 -NX_P58499 25982 235 8.97 21 Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_P58505 35003 322 10.06 21 Nucleus;Nucleoplasm NA 0 PE2 -NX_P58511 6886 58 9.87 21 Membrane;Focal adhesion NA 1 PE1 -NX_P58512 21308 204 5.95 21 NA NA 0 PE2 -NX_P58513 9586 81 9.89 21 NA NA 0 PE5 -NX_P58546 12895 118 5.27 7 Cytoplasm;Nucleus;Perinuclear region;Cell membrane;Cytosol NA 0 PE1 -NX_P58549 8524 80 8.5 19 Membrane NA 1 PE1 -NX_P58550 10590 94 6.81 X Membrane NA 1 PE5 -NX_P58557 19298 167 7.06 21 Nucleus;Nucleoplasm NA 0 PE1 -NX_P58658 49483 441 6.52 21 Membrane NA 1 PE1 -NX_P58743 81264 744 5.91 7 Cell membrane Deafness, autosomal recessive, 61 12 PE2 -NX_P58753 23883 221 7.56 11 Cytosol;Nucleoplasm;Membrane;Cell membrane;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_P58872 45245 404 7.25 17 Membrane NA 7 PE1 -NX_P58876 13936 126 10.31 6 Chromosome;Nucleus NA 0 PE1 -NX_P59020 16743 149 11.26 21 NA NA 0 PE2 -NX_P59022 9286 87 5.35 21 NA NA 0 PE1 -NX_P59025 30913 263 7.99 3 Cell membrane NA 1 PE2 -NX_P59036 7298 64 11.56 21 NA NA 0 PE5 -NX_P59037 8510 77 7.58 21 NA NA 0 PE5 -NX_P59044 98768 892 8.43 11 Cytoplasm;Inflammasome;Cell membrane;Nucleus membrane NA 0 PE1 -NX_P59045 117779 1033 7.98 19 NA NA 0 PE1 -NX_P59046 120173 1061 6.59 19 Cytoplasm Familial cold autoinflammatory syndrome 2 0 PE1 -NX_P59047 134342 1200 6.08 19 Cytoplasm;Nucleolus;Mitochondrion NA 0 PE1 -NX_P59051 16132 145 12.1 21 NA NA 0 PE5 -NX_P59052 15706 145 9.21 21 NA NA 0 PE5 -NX_P59074 19069 171 5.17 14 NA NA 0 PE5 -NX_P59089 18635 165 11.68 21 NA NA 0 PE5 -NX_P59090 7097 65 9.38 21 NA NA 0 PE5 -NX_P59091 15087 139 9.9 21 NA NA 0 PE5 -NX_P59095 25022 220 9.36 18 NA NA 0 PE1 -NX_P59103 18108 153 8.73 13 Golgi apparatus Schizophrenia 0 PE1 -NX_P59190 24391 212 5.53 14 Cell membrane;Cytoplasmic vesicle;Microtubule organizing center NA 0 PE1 -NX_P59282 18503 170 9.07 14 Cytoplasm NA 0 PE1 -NX_P59510 214721 1910 6.98 12 Extracellular matrix NA 0 PE2 -NX_P59533 37892 333 9.6 7 Membrane NA 7 PE2 -NX_P59534 38626 338 9.12 7 Membrane NA 7 PE2 -NX_P59535 36812 323 9.95 7 Membrane NA 7 PE2 -NX_P59536 35896 307 9.98 7 Membrane NA 7 PE2 -NX_P59537 35599 309 10.05 12 Membrane;Cilium membrane NA 7 PE2 -NX_P59538 35278 309 10.05 12 Membrane NA 7 PE2 -NX_P59539 34278 299 10.06 12 Membrane NA 7 PE2 -NX_P59540 35523 309 9.79 12 Membrane;Cilium membrane NA 7 PE2 -NX_P59541 36874 319 10.12 12 Membrane NA 7 PE2 -NX_P59542 33908 299 9.97 12 Membrane NA 7 PE2 -NX_P59543 35358 309 10.06 12 Membrane NA 7 PE2 -NX_P59544 34558 299 9.83 12 Membrane NA 7 PE2 -NX_P59551 36337 318 9.94 7 Membrane NA 7 PE2 -NX_P59646 9373 89 7.65 10 Membrane NA 1 PE2 -NX_P59665 10201 94 6.54 8 Secreted NA 0 PE1 -NX_P59666 10245 94 5.71 8 Secreted NA 0 PE1 -NX_P59768 7850 71 7.78 14 Cell membrane;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_P59773 21573 190 7.86 5 Membrane NA 1 PE2 -NX_P59780 22017 193 5.11 15 Golgi apparatus;Cytoplasmic vesicle membrane NA 0 PE1 -NX_P59796 24971 221 6.21 6 Secreted NA 0 PE2 -NX_P59797 36800 346 9.68 19 NA NA 0 PE1 -NX_P59817 60816 542 9.03 22 Nucleus;Nucleoplasm NA 0 PE1 -NX_P59826 50342 476 6.27 20 Secreted;Cytoplasm NA 0 PE2 -NX_P59827 65055 614 4.95 20 Secreted;Cytoplasm NA 0 PE1 -NX_P59861 8199 70 7.59 4 Secreted NA 0 PE1 -NX_P59894 39859 354 9.4 11 NA NA 0 PE2 -NX_P59901 55165 499 8.29 19 Cell membrane NA 1 PE1 -NX_P59910 36118 316 7.68 11 Flagellum Ciliary dyskinesia, primary, 34 0 PE1 -NX_P59922 35019 312 8.89 6 Cell membrane NA 7 PE5 -NX_P59923 118963 1031 9.5 3 Cytosol;Mitochondrion;Nucleus;Nucleus NA 0 PE1 -NX_P59942 13259 119 7.85 6 Mitochondrion NA 0 PE2 -NX_P59990 9737 96 8.22 21 NA NA 0 PE1 -NX_P59991 14689 146 8.17 21 NA NA 0 PE1 -NX_P59998 19667 168 8.53 3 Cytoskeleton;Cell projection NA 0 PE1 -NX_P60002 9462 83 8.24 19 Cytosol;Nucleus NA 0 PE1 -NX_P60006 14281 121 3.47 11 Nucleus;Cytoplasm;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_P60008 25632 231 10.95 17 Nucleus;Chromosome NA 0 PE1 -NX_P60014 25571 251 7.35 21 NA NA 0 PE1 -NX_P60022 7420 68 8.96 8 Membrane;Secreted NA 0 PE1 -NX_P60033 25809 236 5.09 11 Basolateral cell membrane;Cell membrane Immunodeficiency, common variable, 6 4 PE1 -NX_P60059 7741 68 10.01 7 Endoplasmic reticulum;Endoplasmic reticulum membrane NA 1 PE1 -NX_P60153 24307 205 6.18 14 Secreted NA 0 PE1 -NX_P60174 30791 286 5.65 12 Nucleoplasm Triosephosphate isomerase deficiency 0 PE1 -NX_P60201 30077 277 8.71 X Myelin membrane;Cell membrane Leukodystrophy, hypomyelinating, 1;Spastic paraplegia 2, X-linked 4 PE1 -NX_P60228 52221 445 5.71 8 Nucleus;Cytosol;Cytoplasm;PML body NA 0 PE1 -NX_P60321 15132 138 9.02 19 Perinuclear region;P-body;Cytoplasm NA 0 PE1 -NX_P60323 18844 173 9.17 19 Nucleus;Golgi apparatus;Cytoplasm;Nucleolus;Cytoplasmic granule;Cytoplasm;P-body;Nucleus NA 0 PE1 -NX_P60328 9947 96 8.02 21 NA NA 0 PE1 -NX_P60329 11433 112 7.68 21 NA NA 0 PE1 -NX_P60331 28660 282 7.77 21 NA NA 0 PE2 -NX_P60368 25616 255 7.52 21 NA NA 0 PE2 -NX_P60369 22348 221 7.99 21 NA NA 0 PE2 -NX_P60370 27626 271 7.5 21 NA NA 0 PE1 -NX_P60371 36791 365 6 21 NA NA 0 PE1 -NX_P60372 40429 401 7.12 21 NA NA 0 PE1 -NX_P60409 37816 375 7.16 21 NA NA 0 PE1 -NX_P60410 26299 259 7.82 21 NA NA 0 PE1 -NX_P60411 30037 292 7.87 21 NA NA 0 PE1 -NX_P60412 30243 298 7.93 21 NA NA 0 PE1 -NX_P60413 25107 245 7.94 21 NA NA 0 PE1 -NX_P60468 9974 96 11.57 9 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 -NX_P60484 47166 403 5.94 10 Cytosol;Cytoplasm;Secreted;PML body;Nucleus;Nucleoplasm Lhermitte-Duclos disease;Prostate cancer;Macrocephaly/autism syndrome;Bannayan-Riley-Ruvalcaba syndrome;Cowden syndrome 1;Glioma 2;VACTERL association with hydrocephalus;Endometrial cancer;Squamous cell carcinoma of the head and neck 0 PE1 -NX_P60507 65248 584 8.56 X Cell membrane;Virion NA 1 PE1 -NX_P60508 59523 538 9.14 6 Virion;Cell membrane;Cell membrane NA 1 PE1 -NX_P60509 58521 514 7.61 3 Cell membrane NA 1 PE2 -NX_P60510 35080 307 4.91 16 Cytoplasm;Centrosome;Nucleus;Cell membrane;Cytosol;Nucleus NA 0 PE1 -NX_P60520 13667 117 7.81 16 Nucleus;Cytoplasm;Nucleoplasm;Cytosol;Golgi apparatus;Autophagosome NA 0 PE1 -NX_P60568 17628 153 7.67 4 Secreted NA 0 PE1 -NX_P60602 8183 79 9.58 20 Cytoplasm;Mitochondrion inner membrane NA 1 PE1 -NX_P60604 18566 165 4.62 21 NA NA 0 PE1 -NX_P60606 9045 82 5.08 19 Cell junction;Nucleoplasm;Membrane;Cell membrane NA 1 PE2 -NX_P60608 58319 527 8.65 7 Virion NA 0 PE1 -NX_P60660 16930 151 4.56 12 NA NA 0 PE1 -NX_P60673 14596 137 9.49 5 Nucleus;Cytoskeleton NA 0 PE1 -NX_P60709 41737 375 5.29 7 Cytoskeleton Baraitser-Winter syndrome 1;Dystonia, juvenile-onset 0 PE1 -NX_P60763 21379 192 8.43 17 Cytoplasm;Lamellipodium;Perinuclear region;Cell membrane;Cytoskeleton;Endomembrane system NA 0 PE1 -NX_P60827 27685 252 9.7 16 Secreted NA 0 PE1 -NX_P60842 46154 406 5.32 17 Nucleus;Cytoplasm NA 0 PE1 -NX_P60852 70049 638 6.63 11 Extracellular matrix;Cell membrane Oocyte maturation defect 1 1 PE1 -NX_P60866 13373 119 9.95 8 Cytoplasm;Endoplasmic reticulum;Cytoplasm;Cytosol NA 0 PE1 -NX_P60880 23315 206 4.66 20 Perinuclear region;Cell membrane;Synaptosome Myasthenic syndrome, congenital, 18 0 PE1 -NX_P60891 34834 318 6.51 X NA Phosphoribosylpyrophosphate synthetase superactivity;Deafness, X-linked, 1;Charcot-Marie-Tooth disease, X-linked recessive, 5;ARTS syndrome 0 PE1 -NX_P60893 41995 370 9.75 7 Cell membrane;Golgi apparatus;Cell membrane;Endoplasmic reticulum NA 7 PE1 -NX_P60896 8278 70 3.81 7 Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_P60900 27399 246 6.35 14 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P60903 11203 97 6.82 1 Cytoplasm;Mitochondrion NA 0 PE1 -NX_P60953 21259 191 6.16 1 Cytoskeleton;Cytoskeleton;Midbody;Cell membrane;Centrosome;Spindle Takenouchi-Kosaki syndrome 0 PE1 -NX_P60981 18506 165 8.06 20 NA NA 0 PE1 -NX_P60983 16713 142 5.19 14 NA NA 0 PE1 -NX_P60985 11050 99 6.72 19 Secreted NA 0 PE1 -NX_P61006 23668 207 9.15 19 Cell membrane;Phagosome;Cilium;Cell membrane;Cilium basal body;Nucleus;Golgi apparatus;Recycling endosome membrane;Phagosome membrane;Centriole NA 0 PE1 -NX_P61009 20313 180 8.66 4 Endoplasmic reticulum;Microsome membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_P61011 55705 504 8.87 14 Cytosol;Nucleolus;Cytoplasm;Nucleus speckle NA 0 PE1 -NX_P61018 23587 213 5.8 19 Cell membrane NA 0 PE1 -NX_P61019 23546 212 6.08 8 Endoplasmic reticulum-Golgi intermediate compartment membrane;Melanosome;Endoplasmic reticulum membrane;Golgi apparatus membrane NA 0 PE1 -NX_P61020 23707 215 8.29 12 Nucleus;Cytoplasm;Cytoplasmic vesicle;Cell membrane;Early endosome membrane;Melanosome NA 0 PE1 -NX_P61024 9660 79 8.89 1 NA NA 0 PE1 -NX_P61026 22541 200 8.58 2 Cytoplasmic vesicle membrane;Golgi apparatus membrane;trans-Golgi network membrane;Endosome membrane;Recycling endosome membrane;Phagosome membrane;Cilium;Endoplasmic reticulum membrane NA 0 PE1 -NX_P61073 39746 352 8.46 2 Lysosome;Cell membrane;Cell junction;Early endosome;Late endosome WHIM syndrome 7 PE1 -NX_P61077 16687 147 7.67 4 Cell membrane;Endosome membrane NA 0 PE1 -NX_P61081 20900 183 7.57 19 Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_P61086 22407 200 5.33 4 Cytoplasm;Nucleus;Cytoplasm;Cytosol;Cytoskeleton NA 0 PE1 -NX_P61088 17138 152 6.13 12 Cytoplasm;Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_P61106 23897 215 5.85 9 Nucleus;Cytoplasm;Cytoplasmic vesicle;trans-Golgi network membrane;Phagosome;Early endosome membrane;Golgi apparatus membrane;Recycling endosome NA 0 PE1 -NX_P61129 131670 1189 7.31 2 NA NA 0 PE1 -NX_P61158 47371 418 5.61 2 Cell projection;Cytoskeleton;Cytoplasm NA 0 PE1 -NX_P61160 44761 394 6.29 2 Cytoplasm;Cell projection;Cytoskeleton;Cytosol NA 0 PE1 -NX_P61163 42614 376 6.19 10 Cytoskeleton;Cell cortex;Cytoplasm;Centrosome NA 0 PE1 -NX_P61165 9079 79 5.57 11 Cytosol;Cell membrane;Endoplasmic reticulum;Membrane NA 2 PE1 -NX_P61201 51597 443 5.36 15 Cytoskeleton;Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_P61204 20601 181 6.84 12 Golgi apparatus;Perinuclear region NA 0 PE1 -NX_P61218 14478 127 4.11 22 Nucleolus;Nucleus;Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_P61221 67314 599 8.63 4 Cytosol;Cytoplasm;Mitochondrion NA 0 PE1 -NX_P61224 20825 184 5.65 12 Nucleus;Cytoplasm;Cell membrane;Cell junction;Cytosol NA 0 PE1 -NX_P61225 20504 183 4.73 3 Recycling endosome membrane NA 0 PE1 -NX_P61236 13608 119 7.66 16 Nucleolus NA 0 PE2 -NX_P61244 18275 160 5.88 14 Cytoplasmic vesicle;Golgi apparatus;Dendrite;Nucleus;Nucleoplasm Pheochromocytoma 0 PE1 -NX_P61247 29945 264 9.75 4 Cytosol;Endoplasmic reticulum;Nucleolus;Cytoplasm;Nucleus NA 0 PE1 -NX_P61254 17258 145 10.55 17 NA Diamond-Blackfan anemia 11 0 PE1 -NX_P61266 33245 288 5.25 16 Membrane;Nucleus;Centrosome;Spindle Generalized epilepsy with febrile seizures plus 9 1 PE1 -NX_P61278 12736 116 5.47 3 Secreted NA 0 PE1 -NX_P61289 29506 254 5.69 17 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P61296 23666 217 9.23 4 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_P61313 24146 204 11.62 3 Membrane Diamond-Blackfan anemia 12 0 PE1 -NX_P61326 17164 146 5.74 1 Cytoplasm;Nucleus;Nucleus;Nucleus speckle NA 0 PE1 -NX_P61328 27399 243 9.98 3 Nucleoplasm;Cytosol;Nucleus Epileptic encephalopathy, early infantile, 47 0 PE1 -NX_P61353 15798 136 10.56 17 Cytoplasm;Nucleolus Diamond-Blackfan anemia 16 0 PE1 -NX_P61366 14722 133 9.62 3 Secreted NA 0 PE1 -NX_P61371 39036 349 8.64 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_P61421 40329 351 4.89 16 Membrane NA 0 PE1 -NX_P61457 12000 104 6.28 10 Nucleus;Cytoplasm;Cytosol;Nucleoplasm;Cytoplasm;Nucleus Hyperphenylalaninemia, BH4-deficient, D 0 PE1 -NX_P61513 10275 92 10.44 2 NA NA 0 PE1 -NX_P61550 68171 626 8.25 19 Cell membrane NA 1 PE1 -NX_P61565 79236 698 9.22 12 Virion;Cell membrane;Cell membrane NA 1 PE1 -NX_P61566 66585 588 8.23 22 Virion;Cell membrane;Cell membrane NA 1 PE2 -NX_P61567 66649 588 8.55 1 Virion;Cell membrane NA 1 PE2 -NX_P61568 21462 191 6.29 1 Virion NA 0 PE5 -NX_P61570 74892 661 9 11 Cell membrane;Virion NA 1 PE3 -NX_P61571 11722 104 10.39 12 Nucleolus;Cytoplasm NA 0 PE1 -NX_P61572 11828 105 10.22 19 Cytoplasm;Nucleolus NA 0 PE1 -NX_P61573 11828 105 10.22 6 Cytoplasm;Nucleolus NA 0 PE1 -NX_P61574 11920 105 10.13 19 Cytoplasm;Nucleolus NA 0 PE1 -NX_P61575 11844 105 10.22 8 Cytoplasm;Nucleolus NA 0 PE1 -NX_P61576 11735 105 9.95 5 Cytoplasm;Nucleolus NA 0 PE1 -NX_P61578 11808 105 10 10 Nucleolus;Cytoplasm NA 0 PE1 -NX_P61579 11828 105 10.22 11 Nucleolus;Cytoplasm NA 0 PE1 -NX_P61580 8892 75 9.91 5 Nucleus NA 0 PE1 -NX_P61581 8893 75 9.74 22 Nucleus NA 0 PE1 -NX_P61582 8820 75 9.58 1 Nucleus NA 0 PE3 -NX_P61583 8907 75 9.66 3 Nucleus NA 0 PE3 -NX_P61586 21768 193 5.83 3 Cytosol;Midbody;Cell cortex;Cleavage furrow;Cytoskeleton;Lamellipodium;Cell membrane NA 0 PE1 -NX_P61587 27368 244 8.78 2 Golgi apparatus membrane NA 0 PE1 -NX_P61599 20368 178 4.98 20 Nucleus;Cytoplasm;Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_P61601 22245 193 5.23 8 NA NA 0 PE1 -NX_P61604 10932 102 8.89 2 Mitochondrion matrix NA 0 PE1 -NX_P61619 52265 476 8.3 3 Endoplasmic reticulum membrane;Endoplasmic reticulum Familial juvenile hyperuricemic nephropathy 4 10 PE1 -NX_P61626 16537 148 9.38 12 Secreted Amyloidosis 8 0 PE1 -NX_P61647 44836 398 9.19 10 Golgi apparatus membrane;Endoplasmic reticulum NA 1 PE1 -NX_P61758 22658 197 6.64 X Nucleus;Cytoplasm;Cytosol;Cytoplasmic vesicle;Nucleus;Cytoplasm NA 0 PE1 -NX_P61764 67569 594 6.5 9 Cytosol;Cytosol;Membrane;Nucleoplasm Epileptic encephalopathy, early infantile, 4 0 PE1 -NX_P61769 13715 119 6.06 15 Golgi apparatus;Cell membrane;Golgi apparatus;Cell surface;Secreted;Cytosol Amyloidosis 8;Immunodeficiency 43 0 PE1 -NX_P61803 12497 113 6.52 14 Cytosol;Endoplasmic reticulum membrane NA 3 PE1 -NX_P61812 47748 414 8.82 1 Secreted Loeys-Dietz syndrome 4 0 PE1 -NX_P61916 16570 151 7.57 14 Secreted;Endoplasmic reticulum;Lysosome Niemann-Pick disease C2 0 PE1 -NX_P61923 20198 177 4.69 12 Cytoplasm;Cell membrane;Golgi apparatus;Cytoplasm;Golgi apparatus membrane;COPI-coated vesicle membrane NA 0 PE1 -NX_P61925 7989 76 4.45 8 NA NA 0 PE1 -NX_P61927 11078 97 11.74 5 Nucleus;Cytoplasm;Nucleolus NA 0 PE1 -NX_P61952 8481 73 5.47 7 Cell membrane;Cytoplasm;Cell membrane NA 0 PE1 -NX_P61956 10871 95 5.32 17 Nucleus;PML body NA 0 PE1 -NX_P61960 9118 85 9.36 13 Nucleus;Cytoplasm NA 0 PE1 -NX_P61962 38926 342 5.27 17 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P61964 36588 334 8.54 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_P61966 18733 158 5.6 7 Golgi apparatus;Cytoplasmic vesicle membrane;Clathrin-coated pit Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 0 PE1 -NX_P61968 17994 165 8.75 1 Nucleoplasm;Midbody ring NA 0 PE1 -NX_P61970 14478 127 5.1 16 Nucleoplasm;Nucleus inner membrane;Nuclear pore complex;Cytoskeleton;Nucleus outer membrane;Cytosol NA 0 PE1 -NX_P61978 50976 463 5.39 9 Nucleoplasm;Cytoplasm;Nucleoplasm;Podosome Au-Kline syndrome 0 PE1 -NX_P61981 28303 247 4.8 7 Cytoplasm NA 0 PE1 -NX_P62068 42442 366 6.39 4 Nucleolus NA 0 PE1 -NX_P62070 23400 204 5.74 11 Cytosol;Nucleus;Cell membrane Ovarian cancer 0 PE1 -NX_P62072 10333 90 5.89 11 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_P62079 30337 268 4.59 4 Cell membrane NA 4 PE1 -NX_P62081 22127 194 10.09 2 Nucleus;Nucleolus;Endoplasmic reticulum;Cytosol;Centrosome Diamond-Blackfan anemia 8 0 PE1 -NX_P62136 37512 330 5.94 11 Cytosol;Nucleoplasm;Cell membrane;Nucleus;Cytoplasm;Nucleoplasm;Nucleolus NA 0 PE1 -NX_P62140 37187 327 5.84 2 Cell membrane;Cytoplasm;Nucleus;Nucleus;Nucleoplasm;Nucleolus;Cytosol Noonan syndrome-like disorder with loose anagen hair 2 0 PE1 -NX_P62166 21879 190 4.71 9 Postsynaptic density;Cell membrane;Perinuclear region;Cytoplasm;Golgi apparatus;Cell membrane;Membrane NA 0 PE1 -NX_P62191 49185 440 5.87 14 Cytoplasm;Nucleus;Cytosol;Nucleoplasm;Membrane;Cytoplasm;Nucleus NA 0 PE1 -NX_P62195 45626 406 7.11 17 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_P62241 24205 208 10.32 1 Nucleus;Nucleolus;Endoplasmic reticulum;Cytosol;Cytoplasm;Membrane NA 0 PE1 -NX_P62244 14840 130 10.14 16 Cytoplasm NA 0 PE1 -NX_P62249 16445 146 10.21 19 Cytoplasm;Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_P62253 19509 170 5.2 17 Cytosol;Nucleoplasm NA 0 PE1 -NX_P62256 20655 183 4.55 7 Mitochondrion NA 0 PE1 -NX_P62258 29174 255 4.63 17 Cytosol;Nucleus;Cytoplasm;Melanosome NA 0 PE1 -NX_P62263 16273 151 10.07 5 Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P62266 15808 143 10.5 5 Endoplasmic reticulum;Cytosol Brachycephaly, trichomegaly, and developmental delay 0 PE1 -NX_P62269 17719 152 10.99 6 Cytoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_P62273 6677 56 10.16 14 Endoplasmic reticulum;Cytosol Diamond-Blackfan anemia 13 0 PE1 -NX_P62277 17222 151 10.53 11 Nucleolus;Nucleus NA 0 PE1 -NX_P62280 18431 158 10.31 19 Cytosol;Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_P62304 10804 92 9.46 1 Cytosol;Nucleus Hypotrichosis 11 0 PE1 -NX_P62306 9725 86 4.7 12 Nucleolus;Nucleus;Nucleus;Cytosol NA 0 PE1 -NX_P62308 8496 76 8.98 2 Cytosol;Nucleus NA 0 PE1 -NX_P62310 11845 102 4.58 3 Nucleus;Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_P62312 9128 80 9.61 4 Cytoplasm;Nucleus;Cytoskeleton NA 0 PE1 -NX_P62314 13282 119 11.56 18 Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_P62316 13527 118 9.92 19 Cytosol;Nucleus;Cytosol NA 0 PE1 -NX_P62318 13916 126 10.33 22 Nucleoplasm;Cytosol;Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_P62324 19209 171 8.35 12 Cytosol;Nucleoplasm NA 0 PE1 -NX_P62328 5053 44 5.02 X Cytoskeleton;Cytoplasmic vesicle;Nucleoplasm;Cytosol NA 0 PE1 -NX_P62330 20082 175 9.04 14 Cleavage furrow;Ruffle;Cytosol;Endosome membrane;Recycling endosome membrane;Filopodium membrane;Golgi apparatus;Midbody ring;Cell membrane NA 0 PE1 -NX_P62333 44173 389 7.09 14 Cytosol;Cell membrane;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_P62341 22324 195 8.79 3 Endoplasmic reticulum membrane NA 1 PE1 -NX_P62380 20887 186 9.61 6 Cytoplasm;Nucleoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_P62424 29996 266 10.61 9 NA NA 0 PE1 -NX_P62487 19294 172 5.33 11 Nucleus;Nucleoplasm NA 0 PE1 -NX_P62491 24394 216 6.12 15 Golgi apparatus;Cell membrane;Cell membrane;Phagosome;Cleavage furrow;Recycling endosome membrane;Microtubule organizing center NA 0 PE1 -NX_P62495 49031 437 5.51 5 Cytoplasm NA 0 PE1 -NX_P62502 18045 163 4.84 9 Secreted NA 0 PE1 -NX_P62508 51306 458 6.04 1 Nucleus;Nucleus NA 0 PE1 -NX_P62633 19463 177 8 3 Cytosol;Nucleus;Cytoplasm;Endoplasmic reticulum Dystrophia myotonica 2 0 PE1 -NX_P62683 74000 666 8.86 12 Cell membrane NA 0 PE1 -NX_P62684 74038 666 8.95 19 Cell membrane NA 0 PE1 -NX_P62685 72181 647 8.88 8 Cell membrane NA 0 PE1 -NX_P62699 13842 121 6.82 2 Nucleoplasm;Cytosol NA 0 PE1 -NX_P62701 29598 263 10.16 X Nucleolus;Nucleus;Cytoplasm NA 0 PE1 -NX_P62714 35575 309 5.21 8 Nucleoplasm;Cytoplasm;Nucleus;Centromere;Spindle pole NA 0 PE1 -NX_P62736 42009 377 5.24 10 Cytoskeleton Moyamoya disease 5;Aortic aneurysm, familial thoracic 6;Multisystemic smooth muscle dysfunction syndrome 0 PE1 -NX_P62745 22123 196 5.1 2 Late endosome membrane;Cell membrane;Nucleus;Cleavage furrow NA 0 PE1 -NX_P62750 17695 156 10.44 17 Nucleolus;Nucleus;Nucleolus;Cytosol NA 0 PE1 -NX_P62753 28681 249 10.85 9 Nucleus;Nucleolus;Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_P62760 22142 191 5.01 2 NA NA 0 PE1 -NX_P62805 11367 103 11.36 6 Chromosome;Nucleus;Nucleoplasm NA 0 PE1 -NX_P62807 13906 126 10.31 6 Nucleus;Chromosome NA 0 PE1 -NX_P62820 22678 205 5.93 2 Endoplasmic reticulum;Endoplasmic reticulum;Cytosol;Membrane;Melanosome;Cytosol;Cytoplasm;Golgi apparatus;Endoplasmic reticulum;Early endosome NA 0 PE1 -NX_P62826 24423 216 7.01 12 Nucleus;Nucleus;Nucleus envelope;Cytoplasm;Melanosome NA 0 PE1 -NX_P62829 14865 140 10.51 17 Cytosol;Cytoplasm NA 0 PE1 -NX_P62834 20987 184 6.39 1 Cell membrane;Cytoplasm;Perinuclear region;Cell junction;Early endosome NA 0 PE1 -NX_P62837 16735 147 7.69 5 NA NA 0 PE1 -NX_P62841 17040 145 10.39 19 Nucleolus;Nucleus;Cytoplasm;Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P62847 15423 133 10.79 10 Nucleus;Cytosol;Endoplasmic reticulum;Nucleus Diamond-Blackfan anemia 3 0 PE1 -NX_P62851 13742 125 10.12 11 Cytoplasm;Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_P62854 13015 115 11.01 12 NA Diamond-Blackfan anemia 10 0 PE1 -NX_P62857 7841 69 10.7 19 Cytoplasm;Cytosol Diamond-Blackfan anemia 15, with mandibulofacial dysostosis 0 PE1 -NX_P62861 6648 59 12.15 11 Nucleus;Nucleolus;Nucleolus;Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_P62873 37377 340 5.6 1 NA Mental retardation, autosomal dominant 42 0 PE1 -NX_P62875 7645 67 7.65 11 Nucleus;Nucleus NA 0 PE1 -NX_P62877 12274 108 6.49 22 Cytoplasm;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_P62879 37331 340 5.6 7 Perinuclear region NA 0 PE1 -NX_P62888 12784 115 9.65 8 Cytoplasm;Nucleolus;Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P62891 6407 51 12.55 X NA NA 0 PE1 -NX_P62899 14463 125 10.54 2 NA NA 0 PE1 -NX_P62906 24831 217 9.94 6 Endoplasmic reticulum;Nucleolus;Cytosol NA 0 PE1 -NX_P62910 15860 135 11.32 3 Cytoplasm;Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_P62913 20252 178 9.64 1 Cytoplasmic vesicle;Nucleolus;Cytoplasm Diamond-Blackfan anemia 7 0 PE1 -NX_P62917 28025 257 11.04 8 Nucleus;Cytoplasm;Nucleolus;Endoplasmic reticulum;Nucleolus;Cytoplasm;Cytosol NA 0 PE1 -NX_P62937 18012 165 7.68 7 Cytoplasm;Cytoplasm;Secreted NA 0 PE1 -NX_P62942 11951 108 7.89 20 Sarcoplasmic reticulum membrane;Cytosol NA 0 PE1 -NX_P62945 3456 25 12.96 12 Nucleolus;Nucleus;Cytoplasm NA 0 PE1 -NX_P62952 9876 87 6.21 20 Membrane;Nucleolus NA 2 PE1 -NX_P62955 31003 275 6.65 19 Membrane NA 4 PE1 -NX_P62979 17965 156 9.68 2 Nucleus;Nucleolus;Endoplasmic reticulum;Cytoplasm;Cytosol NA 0 PE1 -NX_P62987 14728 128 9.87 19 Nucleus;Cytoplasm;Nucleoplasm;Cytoplasm;Cell membrane;Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_P62993 25206 217 5.89 17 Cytoplasm;Nucleus;Golgi apparatus;Endosome;Cytoplasm;Nucleus NA 0 PE1 -NX_P62995 33666 288 11.25 3 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_P63000 21450 192 8.77 7 Cytoplasm;Cell membrane;Nucleus;Cytosol;Melanosome;Cytoplasm;Cell membrane;Nucleolus NA 0 PE1 -NX_P63010 104553 937 5.22 17 Cell membrane;Coated pit;Cytoplasmic vesicle NA 0 PE1 -NX_P63027 12663 116 7.84 17 Synaptic vesicle membrane;Synaptosome;Cell membrane NA 1 PE1 -NX_P63092 45665 394 5.59 20 Cell membrane GNAS hyperfunction;McCune-Albright syndrome;Progressive osseous heteroplasia;Pituitary adenoma, growth hormone-secreting, 1;Albright hereditary osteodystrophy;Pseudohypoparathyroidism 1B;Pseudohypoparathyroidism 1A;Pseudohypoparathyroidism 1C;ACTH-independent macronodular adrenal hyperplasia 1 0 PE1 -NX_P63096 40361 354 5.69 7 Cell membrane;Golgi apparatus;Cell cortex;Nucleus;Cytoplasm;Cell membrane;Centrosome;Membrane NA 0 PE1 -NX_P63098 19300 170 4.64 2 Cytoplasm;Cytosol;Cell membrane;Membrane;Sarcolemma NA 0 PE1 -NX_P63104 27745 245 4.73 8 Melanosome;Cytoplasm NA 0 PE1 -NX_P63119 17107 156 7.92 12 NA NA 0 PE3 -NX_P63120 17107 156 7.92 19 NA NA 0 PE3 -NX_P63121 17136 156 5.86 19 NA NA 0 PE3 -NX_P63122 17206 156 8.56 8 NA NA 0 PE3 -NX_P63123 17101 156 7.95 1 NA NA 0 PE3 -NX_P63124 17121 156 5.86 5 NA NA 0 PE3 -NX_P63125 17077 156 7.92 11 NA NA 0 PE3 -NX_P63126 74005 666 9.02 6 Cell membrane NA 0 PE1 -NX_P63127 17194 156 8.56 6 NA NA 0 PE3 -NX_P63128 123620 1117 9.04 6 Cell membrane NA 0 PE3 -NX_P63129 17139 156 7.92 22 NA NA 0 PE3 -NX_P63130 74111 666 8.99 1 Cell membrane NA 0 PE3 -NX_P63131 17078 156 5.86 1 NA NA 0 PE3 -NX_P63132 107766 956 9.06 19 NA NA 0 PE3 -NX_P63133 107703 956 9.11 8 NA NA 0 PE3 -NX_P63135 165184 1459 9.09 1 NA NA 0 PE3 -NX_P63136 107472 954 9.14 11 NA NA 0 PE3 -NX_P63145 74040 666 8.99 22 Cell membrane NA 0 PE1 -NX_P63146 17312 152 4.91 5 Nucleus;Cell membrane NA 0 PE1 -NX_P63151 51692 447 5.82 8 NA NA 0 PE1 -NX_P63162 24614 240 11.2 15 Nucleus NA 0 PE1 -NX_P63165 11557 101 5.34 2 Nucleus;Nucleus membrane;Cytoplasm;Nucleus speckle;Nucleus;Nucleus membrane;Nucleolus;PML body;Cell membrane;Nucleus Non-syndromic orofacial cleft 10 0 PE1 -NX_P63167 10366 89 6.89 12 Nucleus;Mitochondrion;Cytoskeleton NA 0 PE1 -NX_P63172 12452 113 5 6 Nucleoplasm;Spindle;Golgi apparatus;Cytoplasm NA 0 PE1 -NX_P63173 8218 70 10.1 17 Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_P63208 18658 163 4.4 5 Cytosol;Nucleus NA 0 PE1 -NX_P63211 8496 74 4.76 7 Cell membrane NA 0 PE1 -NX_P63215 8305 75 7.65 11 Cell membrane NA 0 PE1 -NX_P63218 7318 68 9.9 1 Cell membrane NA 0 PE1 -NX_P63220 9111 83 8.68 20 Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_P63241 16832 154 5.07 17 Cytosol;Nucleoplasm;Endoplasmic reticulum membrane;Nuclear pore complex;Cytoplasm;Nucleus NA 0 PE1 -NX_P63244 35077 317 7.6 5 Nucleus;Cell membrane;Cytoplasm;Cytosol;Cell membrane;Phagocytic cup;Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus;Perikaryon;Dendrite NA 0 PE1 -NX_P63252 48288 427 5.47 17 Membrane;Membrane Long QT syndrome 7;Short QT syndrome 3;Atrial fibrillation, familial, 9 2 PE1 -NX_P63261 41793 375 5.31 17 Cytoplasm;Cytoskeleton Deafness, autosomal dominant, 20;Baraitser-Winter syndrome 2 0 PE1 -NX_P63267 41877 376 5.31 2 Cytoskeleton Visceral myopathy 0 PE1 -NX_P63272 13193 117 8.29 17 Nucleus;Nucleus NA 0 PE1 -NX_P63279 18007 158 8.87 16 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_P63302 9448 87 9.3 19 Cytoplasm NA 0 PE1 -NX_P63313 5026 44 5.31 2 Cytoskeleton NA 0 PE1 -NX_P63316 18403 161 4.04 3 Mitochondrion;Cytoskeleton;Nucleoplasm Cardiomyopathy, familial hypertrophic 13;Cardiomyopathy, dilated 1Z 0 PE1 -NX_P67775 35594 309 5.3 5 Cytoplasm;Nucleus;Centromere;Spindle pole NA 0 PE1 -NX_P67809 35924 324 9.87 1 Nucleolus;Nucleus;Cytosol;Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytoplasmic granule;Secreted NA 0 PE1 -NX_P67812 20625 179 9.48 15 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_P67870 24942 215 5.33 6 NA NA 0 PE1 -NX_P67936 28522 248 4.67 19 Cytoplasm;Cytosol;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_P68032 42019 377 5.23 15 Cytoskeleton;Cytoskeleton Cardiomyopathy, familial hypertrophic 11;Cardiomyopathy, dilated 1R;Atrial septal defect 5 0 PE1 -NX_P68036 17862 154 8.68 22 Cytoplasm;Nucleus;Nucleus;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_P68104 50141 462 9.1 6 Cytoplasm;Cytoplasm;Nucleus;Cell membrane;Nucleolus NA 0 PE1 -NX_P68106 11783 108 8.62 2 Cytoplasm;Sarcoplasmic reticulum NA 0 PE1 -NX_P68133 42051 377 5.23 1 Cytoskeleton Myopathy, actin, congenital, with excess of thin myofilaments;Nemaline myopathy 3;Myopathy, congenital, with fiber-type disproportion;Myopathy, scapulohumeroperoneal 0 PE1 -NX_P68363 50152 451 4.94 12 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_P68366 49924 448 4.95 2 Cytoskeleton Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia 0 PE1 -NX_P68371 49831 445 4.79 9 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_P68400 45144 391 7.29 20 Nucleus Okur-Chung neurodevelopmental syndrome 0 PE1 -NX_P68402 25569 229 5.57 11 Cytosol;Cell membrane;Nucleolus;Cytoplasm NA 0 PE1 -NX_P68431 15404 136 11.13 6 Nucleus;Chromosome Glioma 0 PE1 -NX_P68543 29278 259 5.91 2 Nucleus;Cytoplasm;Centrosome NA 0 PE1 -NX_P68871 15998 147 6.74 11 Nucleus;Cytoplasm Beta-thalassemia, dominant, inclusion body type;Heinz body anemias;Beta-thalassemia;Sickle cell anemia 0 PE1 -NX_P69849 134134 1222 5.44 16 Membrane NA 1 PE3 -NX_P69891 16140 147 6.64 11 NA NA 0 PE1 -NX_P69892 16126 147 6.64 11 NA Cyanosis transient neonatal 0 PE1 -NX_P69905 15258 142 8.72 16 NA Hemoglobin H disease;Heinz body anemias;Alpha-thalassemia 0 PE1 -NX_P78310 40030 365 7.49 21 Cell membrane;Adherens junction;Secreted;Cell membrane;Cell junction;Basolateral cell membrane;Tight junction NA 1 PE1 -NX_P78312 139988 1265 6.04 4 Cytosol;Cell membrane NA 0 PE1 -NX_P78314 62244 561 7.67 4 Cytoskeleton;Nucleus Cherubism 0 PE1 -NX_P78316 97668 857 7.33 4 Nucleus;Nucleolus;Nucleolus NA 0 PE1 -NX_P78317 21319 190 6.59 4 Nucleoplasm;Cytoplasm;Nucleus;PML body NA 0 PE1 -NX_P78318 39222 339 5.26 X Cytoplasm;Cytosol;Cytoskeleton Mental retardation, X-linked, syndromic, 28 0 PE1 -NX_P78324 54967 504 6.51 20 Membrane NA 1 PE1 -NX_P78325 88771 824 7.63 10 Membrane NA 1 PE1 -NX_P78329 59853 520 6.6 19 Endoplasmic reticulum membrane;Microsome membrane Coumarin resistance 0 PE1 -NX_P78330 25008 225 5.53 7 Cytosol Phosphoserine phosphatase deficiency 0 PE1 -NX_P78332 128644 1123 5.93 3 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_P78333 63707 572 6.38 13 Cytosol;Nucleus;Cell membrane;Extracellular space NA 0 PE1 -NX_P78334 57972 506 8.36 X Cell membrane;Postsynaptic cell membrane NA 4 PE2 -NX_P78337 34128 314 9.13 5 Nucleus;Nucleolus Liebenberg syndrome;Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 0 PE1 -NX_P78344 102362 907 6.7 11 Cytosol NA 0 PE1 -NX_P78345 31834 283 9.94 10 Nucleolus;Nucleolus NA 0 PE1 -NX_P78346 29321 268 9.11 10 Cytoskeleton;Nucleolus;Nucleolus;Nucleus;Cytosol NA 0 PE1 -NX_P78347 112416 998 6.09 7 Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_P78348 59909 528 5.48 12 Cell membrane;Golgi apparatus;Cell membrane NA 1 PE1 -NX_P78352 80495 724 5.58 17 Cytoplasmic vesicle;Cell membrane;Postsynaptic density;Axon;Synapse NA 0 PE1 -NX_P78356 47378 416 6.9 17 Nucleoplasm;Endoplasmic reticulum membrane;Cell membrane;Nucleus;Cytoplasm NA 0 PE1 -NX_P78357 156267 1384 6.61 17 Nucleoplasm;Paranodal septate junction;Membrane Lethal congenital contracture syndrome 7 1 PE1 -NX_P78358 17992 180 8.79 X Cytoplasm NA 0 PE1 -NX_P78362 77527 688 4.87 7 Nucleus;Nucleus;Cytoplasm;Cytosol NA 0 PE1 -NX_P78363 255944 2273 5.89 1 Membrane Stargardt disease 1;Macular degeneration, age-related, 2;Fundus flavimaculatus;Cone-rod dystrophy 3;Retinitis pigmentosa 19 12 PE1 -NX_P78364 105534 1004 9.17 12 Nucleus;Nucleus Microcephaly 11, primary, autosomal recessive 0 PE1 -NX_P78367 34814 333 8.12 4 Nucleoplasm;Nucleus Spondylo-megaepiphyseal-metaphyseal dysplasia 0 PE1 -NX_P78368 47457 415 9.16 19 Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_P78369 24488 228 8.32 13 Tight junction;Cell membrane NA 4 PE1 -NX_P78371 57488 535 6.01 12 Cytoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_P78380 30959 273 6.94 12 Cell membrane;Membrane raft;Secreted;Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Cell membrane NA 1 PE1 -NX_P78381 41307 396 9.98 X Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2M 10 PE1 -NX_P78382 36779 337 9.11 6 Golgi apparatus membrane Congenital disorder of glycosylation 2F 10 PE1 -NX_P78383 35760 322 9.36 17 Cytoplasmic vesicle;Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus NA 8 PE1 -NX_P78385 54195 493 5.54 12 NA Monilethrix 0 PE1 -NX_P78386 55802 507 6.27 12 NA Ectodermal dysplasia 4, hair/nail type 0 PE1 -NX_P78395 57890 509 6.44 22 Nucleus;Cell membrane NA 0 PE1 -NX_P78396 52358 465 4.99 13 Cytoskeleton;Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_P78406 40968 368 7.96 20 Spindle pole;Nucleolus;Cytoplasm;Nucleus;Nucleus NA 0 PE1 -NX_P78410 36428 334 5.23 6 Cell membrane NA 1 PE1 -NX_P78411 50361 483 6.03 16 Nucleus;Nucleus speckle;Cytoskeleton;Cytosol Hamamy syndrome 0 PE1 -NX_P78412 48240 446 5.81 16 Nucleus;Mitochondrion;Nucleus NA 0 PE2 -NX_P78413 54445 519 5.84 5 Nucleus;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_P78414 49621 480 5.78 5 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_P78415 52119 501 4.88 16 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_P78417 27566 241 6.24 10 Cytosol NA 0 PE1 -NX_P78423 42203 397 6.08 16 Cell membrane;Secreted;Cell membrane NA 1 PE1 -NX_P78424 73265 691 7.31 7 Nucleus Hereditary susceptibility to Wilms tumor 5 0 PE1 -NX_P78426 37849 367 9.46 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_P78504 133799 1218 5.7 20 Membrane;Cell membrane;Golgi apparatus Alagille syndrome 1;Tetralogy of Fallot 1 PE1 -NX_P78508 42508 379 8.18 1 Membrane;Basolateral cell membrane Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 2 PE1 -NX_P78509 388388 3460 5.54 7 Focal adhesion;Cell membrane;Extracellular matrix Lissencephaly 2;Epilepsy, familial temporal lobe, 7 0 PE1 -NX_P78524 126485 1137 9.35 11 Nucleoplasm NA 0 PE1 -NX_P78527 469089 4128 6.75 8 Nucleus;Nucleolus;Nucleoplasm Immunodeficiency 26 with or without neurologic abnormalities 0 PE1 -NX_P78536 93021 824 5.5 2 Cytosol;Membrane Inflammatory skin and bowel disease, neonatal, 1 1 PE1 -NX_P78537 17263 153 9.37 12 Mitochondrion intermembrane space;Mitochondrion matrix;Cytosol;Lysosome membrane NA 0 PE1 -NX_P78539 51572 464 8.98 X Cell surface NA 0 PE1 -NX_P78540 38578 354 6 14 Mitochondrion;Mitochondrion NA 0 PE1 -NX_P78543 17416 158 8.29 1 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_P78545 41454 371 5.52 1 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_P78549 34390 312 9.72 16 Nucleus;Mitochondrion Familial adenomatous polyposis 3 0 PE1 -NX_P78552 48760 427 5.7 X Golgi apparatus;Nucleoplasm;Membrane NA 1 PE1 -NX_P78556 10762 96 9.21 2 Secreted NA 0 PE1 -NX_P78559 305485 2803 4.85 15 Cytoskeleton;Cytosol NA 0 PE1 -NX_P78560 22745 199 6.32 12 Cytosol;Nucleus;Cytoplasm;Nucleus Mental retardation, autosomal recessive 34, with variant lissencephaly 0 PE1 -NX_P78562 86474 749 8.91 X Membrane Hypophosphatemic rickets, X-linked dominant 1 PE1 -NX_P78563 80763 741 9.11 21 Cytosol;Nucleolus;Nucleus;Nucleoplasm NA 0 PE1 -NX_P79483 29962 266 8.81 6 Cell membrane;Endoplasmic reticulum membrane;Endosome membrane;Lysosome membrane;Late endosome membrane;trans-Golgi network membrane NA 1 PE1 -NX_P79522 20640 188 9.87 6 Nucleoplasm;Cytosol NA 0 PE1 -NX_P80075 11246 99 9.47 17 Secreted NA 0 PE1 -NX_P80098 11200 99 9.72 17 Secreted NA 0 PE1 -NX_P80108 92336 840 5.91 6 Secreted NA 0 PE1 -NX_P80162 11897 114 9.91 4 Secreted NA 0 PE1 -NX_P80188 22588 198 9.02 9 Secreted NA 0 PE1 -NX_P80192 121895 1104 5.63 14 Nucleolus;Nucleus NA 0 PE1 -NX_P80217 31546 286 5.75 17 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_P80294 6039 61 8.49 16 NA NA 0 PE1 -NX_P80297 6068 61 8.38 16 Nucleus;Cytoplasm NA 0 PE1 -NX_P80303 50196 420 5.03 11 Nucleus envelope;Secreted;Golgi apparatus;Membrane;Cytoplasm;Secreted;Endoplasmic reticulum NA 0 PE1 -NX_P80365 44127 405 9.42 16 Cytoplasmic vesicle;Microsome;Endoplasmic reticulum Apparent mineralocorticoid excess 0 PE1 -NX_P80370 41300 383 5.43 14 Membrane;Golgi apparatus NA 1 PE1 -NX_P80404 56439 500 8.17 16 Mitochondrion;Mitochondrion matrix GABA transaminase deficiency 0 PE1 -NX_P80511 10575 92 5.83 1 Secreted;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 -NX_P80723 22693 227 4.64 5 Cell membrane;Cell membrane;Growth cone NA 0 PE1 -NX_P80748 12446 117 5.03 22 Secreted;Cell membrane NA 0 PE1 -NX_P81133 85515 766 7.03 6 Nucleus speckle;Nucleus NA 0 PE1 -NX_P81172 9408 84 9.24 19 Secreted Hemochromatosis 2B 0 PE1 -NX_P81274 76662 684 5.97 1 Cytosol;Cytoplasm;Cell cortex;Spindle pole;Lateral cell membrane Chudley-McCullough syndrome 0 PE1 -NX_P81277 9639 87 11.66 2 Secreted NA 0 PE1 -NX_P81408 71355 668 8.87 1 Nucleoplasm;Membrane NA 4 PE1 -NX_P81534 7697 67 10.15 8 Nucleus;Secreted NA 0 PE1 -NX_P81605 11284 110 6.09 12 Secreted NA 0 PE1 -NX_P81877 37828 361 6.16 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_P82094 122842 1093 4.88 3 Golgi apparatus;Golgi apparatus membrane;Nucleus;Cytoplasm NA 0 PE1 -NX_P82251 53481 487 8.4 19 Apical cell membrane Cystinuria 12 PE1 -NX_P82279 154183 1406 4.84 1 Cytoplasmic vesicle;Secreted;Apical cell membrane Leber congenital amaurosis 8;Pigmented paravenous chorioretinal atrophy;Retinitis pigmentosa 12 1 PE1 -NX_P82650 41280 360 7.7 3 Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 5 0 PE1 -NX_P82663 20116 173 8.99 3 Mitochondrion;Mitochondrion NA 0 PE1 -NX_P82664 22999 201 7.78 6 Cytoskeleton;Mitochondrion;Mitochondrion NA 0 PE1 -NX_P82673 36844 323 8.41 12 Cytosol;Mitochondrion;Mitochondrion NA 0 PE1 -NX_P82675 48006 430 9.93 2 Mitochondrion;Mitochondrion NA 0 PE1 -NX_P82909 11466 103 9.99 5 Mitochondrion;Mitochondrion NA 0 PE1 -NX_P82912 20616 194 10.82 15 Mitochondrion;Mitochondrion NA 0 PE1 -NX_P82914 29842 257 10.48 1 Mitochondrion;Mitochondrion NA 0 PE1 -NX_P82921 10742 87 10.23 1 Mitochondrion;Mitochondrion NA 0 PE1 -NX_P82930 25650 218 9.98 16 Mitochondrion;Mitochondrion NA 0 PE1 -NX_P82932 14227 125 9.3 21 Mitochondrion;Mitochondrion NA 0 PE1 -NX_P82933 45835 396 9.54 2 Nucleolus;Mitochondrion;Mitochondrion NA 0 PE1 -NX_P82970 31525 282 4.5 X Nucleus;Nucleus NA 0 PE1 -NX_P82979 23671 210 6.1 12 Nucleus;Nucleus;Nucleus speckle;Nucleus speckle NA 0 PE1 -NX_P82980 15931 135 6.09 12 Golgi apparatus;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_P82987 188692 1691 8.2 15 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_P83105 50979 476 8.37 8 Secreted NA 0 PE1 -NX_P83110 48608 453 6.71 4 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P83111 60694 547 8.71 15 Mitochondrion;Mitochondrion NA 0 PE1 -NX_P83369 39500 360 10.99 5 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_P83436 86344 770 5.27 16 Golgi apparatus;Golgi apparatus membrane Congenital disorder of glycosylation 2E 0 PE1 -NX_P83731 17779 157 11.26 3 Cytoplasm;Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_P83859 14941 136 10.25 9 Secreted NA 0 PE2 -NX_P83876 16786 142 5.53 18 Nucleus membrane;Nucleus;Nucleus;Cytosol Burn-McKeown syndrome 0 PE1 -NX_P83881 12441 106 10.59 X Cytoplasm;Cytoplasm NA 0 PE1 -NX_P83916 21418 185 4.85 17 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_P84022 48081 425 6.73 15 Nucleus;Cytoplasm;Cytosol;Cytoplasm;Nucleus;Nucleoplasm Colorectal cancer;Loeys-Dietz syndrome 3 0 PE1 -NX_P84074 22427 193 4.87 1 Cytosol;Membrane Dystonia 2, torsion, autosomal recessive 0 PE1 -NX_P84077 20697 181 6.31 1 Cytosol;Cell membrane;Golgi apparatus;Perinuclear region;Synaptosome;Postsynaptic density;Membrane NA 0 PE1 -NX_P84085 20530 180 6.3 7 Membrane;Golgi apparatus;Perinuclear region NA 0 PE1 -NX_P84090 12259 104 5.62 14 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_P84095 21309 191 8.41 11 Cell membrane NA 0 PE1 -NX_P84098 23466 196 11.48 17 Endoplasmic reticulum;Cytosol;Nucleolus NA 0 PE1 -NX_P84101 6900 59 10.44 15 Cytoplasm;Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_P84103 19330 164 11.64 6 Nucleus;Nucleoplasm;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_P84157 21466 204 4.24 17 Nucleus;Endoplasmic reticulum;Membrane NA 1 PE1 -NX_P84243 15328 136 11.27 17 Nucleus;Nucleus;Chromosome;Nucleoplasm Glioma 0 PE1 -NX_P84550 99831 965 6.11 15 Nucleus NA 0 PE1 -NX_P84996 67948 626 11.55 20 Cell membrane;Ruffle Colorectal cancer;Pseudohypoparathyroidism 1B;GNAS hyperfunction;ACTH-independent macronodular adrenal hyperplasia 1 0 PE1 -NX_P85037 75457 733 9.41 7 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_P85298 53484 464 9.45 22 Nucleus NA 0 PE1 -NX_P85299 42753 388 8.31 22 NA NA 0 PE1 -NX_P86397 18559 168 9.1 3 Nucleolus;Mitochondrion;Mitochondrion NA 0 PE1 -NX_P86434 17238 159 6.18 22 NA NA 0 PE5 -NX_P86452 109973 979 6.09 1 Microtubule organizing center;Nucleus;Nucleoplasm;Nucleolus NA 0 PE1 -NX_P86478 23262 221 5.85 13 NA NA 0 PE1 -NX_P86479 23262 221 5.85 13 NA NA 0 PE1 -NX_P86480 23262 221 5.85 13 NA NA 0 PE1 -NX_P86481 23262 221 5.85 13 NA NA 0 PE4 -NX_P86496 23262 221 5.85 13 NA NA 0 PE2 -NX_P86790 55866 482 6.07 7 Lysosome membrane NA 0 PE1 -NX_P86791 55866 482 6.07 7 Lysosome membrane NA 0 PE1 -NX_P87889 74139 666 8.95 5 Cell membrane NA 0 PE1 -NX_P98066 31203 277 6.3 2 NA NA 0 PE1 -NX_P98073 112935 1019 4.89 21 Membrane Enterokinase deficiency 1 PE1 -NX_P98077 61916 582 6.29 19 Cytosol NA 0 PE1 -NX_P98082 82448 770 5.34 5 Cell membrane;Cytoplasmic vesicle;Nucleolus;Cytoplasm;Clathrin-coated vesicle membrane;Clathrin-coated pit NA 0 PE1 -NX_P98088 585570 5654 6.71 11 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_P98095 126573 1184 4.73 3 Cell membrane;Extracellular matrix NA 0 PE1 -NX_P98153 60811 550 5.11 22 Nucleus;Nucleoplasm;Membrane NA 1 PE1 -NX_P98155 96098 873 4.62 9 Microtubule organizing center;Clathrin-coated pit;Cytoskeleton;Cytoplasmic vesicle;Membrane Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 1 PE1 -NX_P98160 468830 4391 6.06 1 Cytosol;Nucleoplasm;Basement membrane;Cell membrane Dyssegmental dysplasia Silverman-Handmaker type;Schwartz-Jampel syndrome 0 PE1 -NX_P98161 462529 4303 6.28 16 Cilium;Cell membrane Polycystic kidney disease 1 11 PE1 -NX_P98164 521958 4655 4.89 2 Mitochondrion;Apical cell membrane;Coated pit;Dendrite;Axon;Endosome lumen;Cytoplasmic vesicle Donnai-Barrow syndrome 1 PE1 -NX_P98168 84771 799 7.35 X Nucleus NA 0 PE1 -NX_P98169 84792 803 6.46 X Nucleus NA 0 PE1 -NX_P98170 56685 497 6.22 X Cell membrane;Cytosol;Cytoplasm;Nucleus;Nucleoplasm Lymphoproliferative syndrome, X-linked, 2 0 PE1 -NX_P98171 105026 946 5.96 X Cytoplasm;Nucleoplasm;Focal adhesion;Cytoplasm NA 0 PE1 -NX_P98172 38007 346 9.1 X Cell membrane;Membrane Craniofrontonasal syndrome 1 PE1 -NX_P98173 25152 230 8.9 X Endoplasmic reticulum;Nucleolus;Nucleus;Secreted NA 0 PE1 -NX_P98174 106561 961 6.14 X Cell membrane;Cytosol;Cytoplasm;Lamellipodium;Ruffle;Cytoskeleton Aarskog-Scott syndrome 0 PE1 -NX_P98175 103533 930 5.69 X Nucleus speckle;Nucleus TARP syndrome 0 PE1 -NX_P98177 53684 505 5.13 X Cytosol;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_P98179 17170 157 8.86 X Nucleus;Cytoplasm;Dendrite;Nucleoplasm NA 0 PE1 -NX_P98182 45534 395 8.64 16 Nucleus;Mitochondrion NA 0 PE1 -NX_P98187 59995 520 8.73 19 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_P98194 100577 919 6.34 3 Golgi apparatus;Golgi apparatus membrane Hailey-Hailey disease 10 PE1 -NX_P98196 129756 1134 6.17 13 Cell membrane;Cytoplasmic vesicle;Early endosome;Recycling endosome;Endoplasmic reticulum NA 10 PE1 -NX_P98198 137440 1209 6.57 1 Cell membrane;Endoplasmic reticulum membrane;Golgi apparatus;Cytoplasmic vesicle;Cytosol NA 10 PE1 -NX_P99999 11749 105 9.59 7 Nucleus;Mitochondrion intermembrane space;Mitochondrion Thrombocytopenia 4 0 PE1 -NX_Q00005 51710 443 6.01 5 Cytoplasm;Cytoskeleton;Membrane;Mitochondrion;Mitochondrion outer membrane Spinocerebellar ataxia 12 0 PE1 -NX_Q00013 52296 466 6.91 X Nucleus;Cytoplasm;Cytosol;Nucleolus;Nucleus speckle;Stereocilium;Membrane NA 0 PE1 -NX_Q00056 34499 320 9.95 7 Nucleus;Nucleus NA 0 PE1 -NX_Q00059 29097 246 9.74 10 Mitochondrion;Mitochondrion;Mitochondrion nucleoid;Mitochondrion Mitochondrial DNA depletion syndrome 15, hepatocerebral type 0 PE1 -NX_Q00169 31806 270 6.12 17 Cytoplasm NA 0 PE1 -NX_Q00266 43648 395 5.86 10 NA Methionine adenosyltransferase deficiency 0 PE1 -NX_Q00325 40095 362 9.45 12 Mitochondrion inner membrane;Mitochondrion Mitochondrial phosphate carrier deficiency 6 PE1 -NX_Q00341 141456 1268 6.43 2 Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q00403 34833 316 8.67 1 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_Q00444 24976 222 9.57 12 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q00526 35046 305 8.86 17 Cytosol NA 0 PE1 -NX_Q00532 41671 357 9.04 14 Nucleoplasm;Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q00534 36938 326 6.02 7 Ruffle;Cytosol;Nucleoplasm;Nucleus;Cytoplasm;Centrosome Microcephaly 12, primary, autosomal recessive 0 PE1 -NX_Q00535 33304 292 7.57 7 Cell membrane;Cytosol;Cell junction;Nucleus;Nucleus;Postsynaptic density;Growth cone;Cytoplasm;Cell membrane;Lamellipodium;Perikaryon Lissencephaly 7, with cerebellar hypoplasia 0 PE1 -NX_Q00536 55716 496 7.23 X Cell membrane;Cytosol;Cytoskeleton;Cytoplasm;Synaptosome;Secretory vesicle;Cell membrane NA 0 PE1 -NX_Q00537 59582 523 9.1 12 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q00577 34911 322 6.07 5 Nucleus Mental retardation, autosomal dominant 31 0 PE1 -NX_Q00587 40295 391 6.64 22 Endomembrane system;Cytoskeleton;Cell membrane;Cytoskeleton NA 0 PE1 -NX_Q00597 63429 558 5.77 9 Nucleoplasm;Nucleus;Cytoplasm Fanconi anemia complementation group C 0 PE1 -NX_Q00604 15044 133 9.17 X Nucleus;Secreted;Nucleolus;Cytoplasmic vesicle Vitreoretinopathy, exudative 2;Norrie disease 0 PE1 -NX_Q00610 191615 1675 5.48 17 Endosome;Lysosome;Spindle;Melanosome;Coated pit;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q00613 57260 529 5.02 8 Nucleus;Cytosol;Cytoplasm;Kinetochore;Centrosome;Spindle pole;Perinuclear region;Nucleoplasm;Nucleoplasm NA 0 PE1 -NX_Q00653 96749 900 5.84 10 Nucleus;Cytoplasm;Nucleoplasm;Cytosol Immunodeficiency, common variable, 10 0 PE1 -NX_Q00688 25177 224 9.29 14 Nucleus;Cytosol NA 0 PE1 -NX_Q00722 134024 1185 5.96 15 Cytosol NA 0 PE1 -NX_Q00765 21493 189 8.25 5 Endoplasmic reticulum;Membrane;Endoplasmic reticulum NA 2 PE1 -NX_Q00796 38325 357 8.23 15 Mitochondrion membrane;Cytosol;Flagellum NA 0 PE1 -NX_Q00839 90584 825 5.76 1 Nucleus;Spindle;Midbody;Cytoplasm;Cell surface;Cytoplasmic granule;Nucleoplasm;Spindle pole;Chromosome;Nucleus matrix;Nucleus speckle;Centrosome;Kinetochore Epileptic encephalopathy, early infantile, 54 0 PE1 -NX_Q00872 128294 1141 5.78 12 Cytoplasm Lethal congenital contracture syndrome 4;Arthrogryposis, distal, 1B 0 PE1 -NX_Q00887 48272 426 8.27 19 Secreted NA 0 PE1 -NX_Q00888 47113 419 9.34 19 Secreted NA 0 PE1 -NX_Q00889 48814 435 8.86 19 Secreted NA 0 PE1 -NX_Q008S8 104880 904 8.65 6 NA NA 0 PE2 -NX_Q00973 58882 533 8.93 12 Golgi apparatus membrane Spastic paraplegia 26, autosomal recessive 1 PE1 -NX_Q00975 262496 2339 8.78 9 Membrane Dystonia 23 24 PE1 -NX_Q00978 43696 393 5.58 14 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q00987 55233 491 4.6 12 Nucleus;Nucleolus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q00994 12958 111 5.31 X Nucleus;Cytoplasm;Cytosol NA 0 PE1 -NX_Q00G26 50791 463 5.08 19 Mitochondrion;Cytoplasm;Lipid droplet NA 0 PE1 -NX_Q00LT1 6007 54 7.96 17 Secreted;Cytoplasm;Golgi apparatus;Endoplasmic reticulum Retinitis pigmentosa 36 0 PE1 -NX_Q01064 61380 536 5.33 12 Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_Q01081 27872 240 9.09 21 Nucleus;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q01082 274609 2364 5.39 2 Cytoplasm;Cell membrane;Cytoskeleton;Golgi apparatus;M line;Cell membrane NA 0 PE1 -NX_Q01085 41591 375 7.62 10 Cytoplasmic vesicle;Nucleus;Cytoplasm;Nucleus;Cytoplasmic granule NA 0 PE1 -NX_Q01094 46920 437 4.79 20 Nucleus;Nucleoplasm;Centrosome NA 0 PE1 -NX_Q01101 52923 510 9.19 20 Nucleus NA 0 PE1 -NX_Q01105 33489 290 4.23 9 Nucleus;Cytosol;Endoplasmic reticulum;Nucleoplasm NA 0 PE1 -NX_Q01113 57147 521 5.27 X Cell membrane;Secreted NA 1 PE1 -NX_Q01118 193493 1682 8.26 2 Cell membrane NA 24 PE1 -NX_Q01130 25476 221 11.86 17 Nucleus;Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_Q01151 23042 205 8.45 6 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q01167 69062 660 9.56 17 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q01196 48737 453 9.4 21 Cytoplasmic vesicle;Nucleus;Nucleoplasm Familial platelet disorder with associated myeloid malignancy 0 PE1 -NX_Q01201 62134 579 5.84 19 Cytosol;Centrosome;Nucleus;Nucleoplasm Immunodeficiency 53 0 PE1 -NX_Q01344 47685 420 5.36 3 Membrane NA 1 PE1 -NX_Q01362 26534 244 5.05 11 Membrane NA 4 PE1 -NX_Q01415 50378 458 6.19 15 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q01432 88812 767 6.51 11 Nucleus membrane Adenosine monophosphate deaminase deficiency erythrocyte type 0 PE1 -NX_Q01433 100688 879 6.46 1 Cytosol Spastic paraplegia 63, autosomal recessive;Pontocerebellar hypoplasia 9 0 PE1 -NX_Q01449 19448 175 4.83 7 NA NA 0 PE1 -NX_Q01453 17891 160 7.75 17 Cell membrane Charcot-Marie-Tooth disease 1A;Hereditary neuropathy with liability to pressure palsies;Dejerine-Sottas syndrome;Inflammatory demyelinating polyneuropathy;Charcot-Marie-Tooth disease 1E 4 PE1 -NX_Q01459 43760 385 6.19 1 Lysosome;Cytosol NA 0 PE1 -NX_Q01469 15164 135 6.6 8 Cytoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q01484 433715 3957 5.03 4 M line;Apical cell membrane;Cytoskeleton;Membrane;Cell membrane;Postsynaptic cell membrane;Early endosome;Recycling endosome;Lysosome;Mitochondrion Long QT syndrome 4 0 PE1 -NX_Q01518 51901 475 8.24 1 Cell membrane;Cytosol NA 0 PE1 -NX_Q01523 10071 94 8.3 8 Secretory vesicle;Secreted NA 0 PE1 -NX_Q01524 10975 100 5.21 8 Secreted NA 0 PE1 -NX_Q01534 35012 308 5.29 Y Cytoplasm;Nucleus NA 0 PE1 -NX_Q01538 122329 1121 4.81 20 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q01543 50982 452 6.57 11 Nucleus;Nucleus;Nucleus Ewing sarcoma;Bleeding disorder, platelet-type 21 0 PE1 -NX_Q01546 65841 638 8.38 12 NA NA 0 PE1 -NX_Q01581 57294 520 5.22 5 Nucleus;Cytosol;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q01628 14632 133 6.49 11 Endosome;Lysosome membrane;Late endosome membrane;Cell membrane NA 1 PE1 -NX_Q01629 14632 132 6.89 11 Cell membrane NA 1 PE1 -NX_Q01638 63358 556 8.63 2 Cytoplasmic vesicle;Cell membrane;Secreted;Cell membrane NA 1 PE1 -NX_Q01650 55010 507 7.9 16 Cytosol;Cytoplasmic vesicle;Cytosol;Apical cell membrane;Cell membrane NA 12 PE1 -NX_Q01658 19444 176 4.69 1 Nucleus;Nucleus NA 0 PE1 -NX_Q01664 38726 338 5.63 16 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q01668 245141 2161 6.32 3 Membrane;Nucleus membrane Sinoatrial node dysfunction and deafness;Primary aldosteronism, seizures, and neurologic abnormalities 24 PE1 -NX_Q01718 33927 297 9.02 18 Cell membrane Glucocorticoid deficiency 1 7 PE1 -NX_Q01726 34706 317 8.78 16 Cell membrane Melanoma, cutaneous malignant 5 7 PE1 -NX_Q01740 60311 532 6.8 1 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_Q01780 100831 885 8.68 1 Nucleus;Cytoplasm;Nucleolus;Nucleus;Nucleolus;Cytosol NA 0 PE1 -NX_Q01804 124045 1114 6.25 4 Cytosol NA 0 PE1 -NX_Q01813 85596 784 7.5 10 Cytoplasm;Cytosol NA 0 PE1 -NX_Q01814 136876 1243 5.66 3 Cell membrane;Synapse NA 10 PE1 -NX_Q01826 85957 763 6.1 3 Nucleoplasm;Nucleus;Nucleus matrix;PML body NA 0 PE1 -NX_Q01831 105953 940 9.03 3 Cell membrane;Nucleus;Cytoplasm;Nucleus Xeroderma pigmentosum complementation group C 0 PE1 -NX_Q01844 68478 656 9.37 22 Nucleolus;Nucleus;Nucleus;Cell membrane;Cytoplasm Angiomatoid fibrous histiocytoma;Ewing sarcoma 0 PE1 -NX_Q01850 51855 454 5.01 16 Nucleoplasm NA 0 PE1 -NX_Q01851 42697 419 9.15 13 Nucleus;Cytoplasm NA 0 PE2 -NX_Q01860 38571 360 5.69 6 Cytoplasm;Nucleus NA 0 PE1 -NX_Q01892 28819 262 5.35 19 Cytoplasm;Nucleus NA 0 PE1 -NX_Q01954 110972 994 7 15 Nucleoplasm;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q01955 161813 1670 9.28 2 Cytoplasmic vesicle;Endoplasmic reticulum;Basement membrane Hematuria, benign familial;Alport syndrome, autosomal recessive;Alport syndrome, autosomal dominant 0 PE1 -NX_Q01959 68495 620 6.46 5 Cytoplasmic vesicle;Cell membrane Parkinsonism-dystonia infantile 12 PE1 -NX_Q01968 104205 901 6.13 X Cytosol;Phagosome membrane;Early endosome membrane;Clathrin-coated pit;Photoreceptor outer segment;Cytoskeleton;Cilium;Cytoplasmic vesicle;Endosome;trans-Golgi network Lowe oculocerebrorenal syndrome;Dent disease 2 0 PE1 -NX_Q01970 138799 1234 5.68 11 Nucleoplasm;Membrane NA 0 PE1 -NX_Q01973 104283 937 6.76 1 Cytoskeleton;Axon;Membrane;Cytoskeleton Deafness, autosomal recessive, 108 1 PE1 -NX_Q01974 104757 943 6.1 9 Cell membrane Robinow syndrome autosomal recessive;Brachydactyly B1 1 PE1 -NX_Q01995 22611 201 8.87 11 Cytosol;Cytoskeleton;Cytoplasm;Mitochondrion NA 0 PE1 -NX_Q02040 80735 695 9.76 X Nucleus speckle;Nucleus speckle;Cytosol NA 0 PE1 -NX_Q02045 19534 173 4.87 4 Nucleolus;Nucleus NA 0 PE2 -NX_Q02078 54811 507 7.72 15 Nucleus;Nucleus;Nucleoplasm Coronary artery disease, autosomal dominant, 1 0 PE1 -NX_Q02080 38639 365 9.58 19 Nucleus NA 0 PE1 -NX_Q02083 40066 359 8.88 4 Lysosome NA 0 PE1 -NX_Q02086 64900 613 9.95 17 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q02094 44198 409 6.35 6 Membrane Overhydrated hereditary stomatocytosis;Regulator type Rh-null hemolytic anemia 12 PE1 -NX_Q02108 77452 690 6.75 4 Cytosol;Nucleoplasm;Cytoplasm Moyamoya disease 6 with achalasia 0 PE1 -NX_Q02127 42867 395 9.66 16 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane Postaxial acrofacial dysostosis 1 PE1 -NX_Q02153 70514 619 5.2 4 Cytosol;Cytoplasm NA 0 PE1 -NX_Q02156 83674 737 6.73 2 Cytoplasmic vesicle;Perinuclear region;Nucleus;Cytoskeleton;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q02161 45211 417 8.71 1 Cytoplasm;Cell membrane;Membrane NA 11 PE1 -NX_Q02218 115935 1023 6.39 7 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q02221 10815 97 10.91 16 Mitochondrion inner membrane NA 0 PE1 -NX_Q02223 20165 184 5.24 16 Cell membrane;Endomembrane system NA 1 PE1 -NX_Q02224 316415 2701 5.51 4 Cytosol;Cytoskeleton;Kinetochore;Spindle;Centromere Microcephaly 13, primary, autosomal recessive 0 PE1 -NX_Q02241 110059 960 8.76 15 Midbody ring;Spindle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q02246 113393 1040 8.11 1 Cell membrane Epilepsy, familial adult myoclonic, 5 0 PE1 -NX_Q02252 57840 535 8.72 14 Mitochondrion;Mitochondrion Methylmalonate semialdehyde dehydrogenase deficiency 0 PE1 -NX_Q02297 70392 640 9 8 Cell membrane;Secreted;Membrane;Secreted;Nucleus;Nucleoplasm NA 1 PE1 -NX_Q02318 60235 531 9.05 2 Mitochondrion;Mitochondrion membrane Cerebrotendinous xanthomatosis 0 PE1 -NX_Q02325 10971 96 6.11 2 Secreted NA 0 PE2 -NX_Q02338 38157 343 9.1 3 Mitochondrion inner membrane;Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q02363 14917 134 7.82 2 Cytoplasm;Nucleus;Centrosome;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q02383 65444 582 9.09 20 Secreted NA 0 PE1 -NX_Q02386 78242 682 8.98 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q02388 295220 2944 5.95 3 Basement membrane Epidermolysis bullosa dystrophica, pretibial type;Epidermolysis bullosa dystrophica, Bart type;Epidermolysis bullosa dystrophica, Hallopeau-Siemens type;Epidermolysis bullosa pruriginosa;Transient bullous dermolysis of the newborn;Nail disorder, non-syndromic congenital, 8;Epidermolysis bullosa dystrophica, with subcorneal cleavage;Epidermolysis bullosa dystrophica, autosomal dominant;Epidermolysis bullosa dystrophica, autosomal recessive;Epidermolysis bullosa dystrophica, Pasini type 0 PE1 -NX_Q02410 92865 837 4.84 9 Cytoplasm;Perinuclear region;Golgi apparatus;Golgi apparatus;Nucleus NA 0 PE1 -NX_Q02413 113748 1049 4.9 18 Cell membrane;Desmosome Palmoplantar keratoderma 1, striate, focal, or diffuse;Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE 1 PE1 -NX_Q02446 81985 784 6.61 7 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q02447 81925 781 5.09 2 Nucleus;PML body NA 0 PE1 -NX_Q02487 99962 901 5.19 18 Cell membrane;Desmosome Arrhythmogenic right ventricular dysplasia, familial, 11 1 PE1 -NX_Q02505 345127 3323 5.14 7 Secreted;Membrane NA 1 PE1 -NX_Q02509 53454 493 4.84 8 Secreted NA 0 PE2 -NX_Q02535 12999 119 5.55 1 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q02539 21842 215 10.99 6 Nucleus;Chromosome NA 0 PE1 -NX_Q02543 20762 176 10.72 19 Nucleolus;Cytosol NA 0 PE1 -NX_Q02548 42149 391 9.08 9 Cytoplasmic vesicle;Cytosol;Nucleus;Nucleoplasm Leukemia, acute lymphoblastic, 3 0 PE1 -NX_Q02556 48356 426 6.38 16 Nucleoplasm;Cytoplasm;Nucleus Immunodeficiency 32B;Immunodeficiency 32A 0 PE1 -NX_Q02575 14618 133 9.06 1 Nucleus NA 0 PE1 -NX_Q02577 15018 135 7.91 1 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q02641 65714 598 6.33 17 Sarcolemma NA 0 PE1 -NX_Q02643 47402 423 6.26 7 Cell membrane Growth hormone deficiency, isolated, 1B 7 PE1 -NX_Q02742 49799 428 8.65 9 Nucleus speckle;Golgi apparatus membrane NA 1 PE1 -NX_Q02747 12388 115 4.56 1 Secreted NA 0 PE1 -NX_Q02750 43439 393 6.18 15 Cytosol;Centrosome;Spindle pole body;Cytoplasm;Nucleus;Membrane;Cell membrane Cardiofaciocutaneous syndrome 3 0 PE1 -NX_Q02763 125830 1124 6.46 9 Microtubule organizing center;Cell membrane;Cell membrane;Cell junction;Secreted;Focal adhesion;Cytoskeleton Dominantly inherited venous malformations;Glaucoma 3, primary congenital, E 1 PE1 -NX_Q02779 103694 954 6.56 19 Nucleus;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q02790 51805 459 5.35 12 Cytosol;Cytosol;Mitochondrion;Axon;Cytoskeleton;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q02809 83550 727 6.46 1 Cytoplasmic vesicle;Rough endoplasmic reticulum membrane;Nucleoplasm Ehlers-Danlos syndrome 6 0 PE1 -NX_Q02817 540300 5179 5.49 11 Secreted NA 0 PE1 -NX_Q02818 53879 461 5.15 19 Cytoplasm;Secreted;cis-Golgi network membrane;Golgi apparatus;Cytoskeleton NA 0 PE1 -NX_Q02833 39945 373 5.5 11 Centrosome;Microtubule organizing center NA 0 PE1 -NX_Q02846 120059 1103 7.15 17 Membrane Leber congenital amaurosis 1;Cone-rod dystrophy 6 1 PE1 -NX_Q02878 32728 288 10.59 12 NA NA 0 PE1 -NX_Q02880 183267 1626 8.14 3 Nucleus;Cytoplasm;Nucleolus NA 0 PE1 -NX_Q02928 59348 519 8.96 1 Microsome membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_Q02930 56918 508 8.76 7 Cytoplasmic vesicle;Nucleus;Nucleus;Cell membrane NA 0 PE1 -NX_Q02952 191482 1782 4.37 6 Cytoplasm;Cell membrane;Cytoskeleton;Cytosol;Cell cortex;Cytoskeleton;Membrane;Cell membrane NA 0 PE1 -NX_Q02962 44706 417 7.25 10 Golgi apparatus;Nucleolus;Nucleus Focal segmental glomerulosclerosis 7;Papillorenal syndrome 0 PE1 -NX_Q02978 34062 314 9.92 17 Mitochondrion inner membrane NA 6 PE1 -NX_Q02985 37323 330 7.72 1 Secreted NA 0 PE1 -NX_Q03001 860662 7570 5.14 6 Nucleus;Cytosol;Membrane;Endoplasmic reticulum membrane;Membrane;Nucleus envelope;Nucleus;Hemidesmosome;H zone;Z line;Cytoskeleton;Axon;Cytoskeleton;Cell membrane;Cell cortex Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, 6 0 PE1 -NX_Q03013 25561 218 5.6 1 Cytoplasm NA 0 PE1 -NX_Q03014 30022 270 6.72 10 Nucleus;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q03052 45496 451 7.29 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q03060 38940 361 6.22 10 Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleus NA 0 PE1 -NX_Q03111 62056 559 8.75 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q03112 118276 1051 6.27 3 Nucleus speckle;Nucleus;Nucleus speckle Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 PE1 -NX_Q03113 44279 381 9.84 7 Cytosol;Cytoplasm;Lateral cell membrane;Cell membrane NA 0 PE1 -NX_Q03135 20472 178 5.64 7 Cytoplasm;Golgi apparatus;Nucleus;trans-Golgi network;Golgi apparatus membrane;Cell membrane;Caveola;Golgi apparatus;Membrane raft;Cell membrane Congenital generalized lipodystrophy 3;Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome;Pulmonary hypertension, primary, 3 0 PE1 -NX_Q03154 45885 408 5.77 3 Cytoplasm Aminoacylase-1 deficiency 0 PE1 -NX_Q03164 431764 3969 9.22 11 Nucleus;Nucleus;Nucleus;Nucleoplasm;Cytosol Wiedemann-Steiner syndrome 0 PE1 -NX_Q03167 93499 851 5.45 1 Cytosol;Secreted;Extracellular space;Cell membrane NA 1 PE1 -NX_Q03169 72661 654 6.06 14 Cytosol;Nucleus;Nucleus membrane;Golgi apparatus NA 0 PE1 -NX_Q03181 49903 441 7.53 6 Nucleus NA 0 PE1 -NX_Q03188 106834 943 9.43 4 Nucleus;Nucleoplasm;Cytosol;Nucleus;Kinetochore;Centromere NA 0 PE1 -NX_Q03252 69948 620 5.5 19 Nucleus membrane;Nucleus inner membrane Epilepsy, progressive myoclonic 9;Partial acquired lipodystrophy 0 PE1 -NX_Q03393 16386 145 6.2 11 Cytosol Hyperphenylalaninemia, BH4-deficient, A 0 PE1 -NX_Q03395 37205 351 5.65 11 Cell membrane;Cytosol;Membrane Retinitis pigmentosa 7 4 PE1 -NX_Q03403 14284 129 5.51 21 Secreted NA 0 PE1 -NX_Q03405 36978 335 6.19 19 Cell membrane;Cell membrane;Secreted;Cell membrane;Invadopodium membrane NA 0 PE1 -NX_Q03426 42451 396 6.02 12 Cytoplasm Porokeratosis 3, multiple types;Mevalonic aciduria;Hyperimmunoglobulinemia D and periodic fever syndrome 0 PE1 -NX_Q03431 66361 593 8.25 3 Cell membrane Eiken skeletal dysplasia;Chondrodysplasia Blomstrand type;Jansen metaphyseal chondrodysplasia;Primary failure of tooth eruption;Enchondromatosis multiple 7 PE1 -NX_Q03468 168416 1493 8.28 10 Nucleus;Nucleus De Sanctis-Cacchione syndrome;UV-sensitive syndrome 1;Macular degeneration, age-related, 5;Cerebro-oculo-facio-skeletal syndrome 1;Cockayne syndrome B 0 PE1 -NX_Q03518 87218 808 8.24 6 Endoplasmic reticulum membrane;Endoplasmic reticulum;Microtubule organizing center Bare lymphocyte syndrome 1 10 PE1 -NX_Q03519 75664 686 8.24 6 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus speckle Bare lymphocyte syndrome 1 9 PE1 -NX_Q03591 37651 330 7.39 1 Secreted NA 0 PE1 -NX_Q03692 66158 680 9.68 6 Extracellular matrix Schmid type metaphyseal chondrodysplasia 0 PE1 -NX_Q03701 120974 1054 5.65 2 Cytoplasmic vesicle;Nucleus;Nucleus NA 0 PE1 -NX_Q03721 69767 635 6.56 1 Membrane;Cytosol;Nucleolus NA 6 PE1 -NX_Q03828 47800 476 9.12 2 Nucleus NA 0 PE2 -NX_Q03923 68736 595 9.45 19 Nucleus;Nucleus NA 0 PE1 -NX_Q03924 56376 483 9.46 7 Cytosol;Nucleolus;Nucleus NA 0 PE2 -NX_Q03933 60348 536 4.7 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q03936 68487 586 9.4 7 Nucleus NA 0 PE1 -NX_Q03938 69058 601 9.36 19 Nucleus;Golgi apparatus;Nucleus NA 0 PE1 -NX_Q03989 64074 594 9.34 2 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q04118 30980 309 10.8 12 Secreted NA 0 PE1 -NX_Q04206 60219 551 5.46 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q04323 33325 297 5.23 11 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q04446 80474 702 5.87 3 Cytosol;Nucleoplasm Glycogen storage disease 4;Polyglucosan body neuropathy, adult form 0 PE1 -NX_Q04609 84331 750 6.5 11 Cell membrane;Cytoplasm NA 1 PE1 -NX_Q04637 175491 1599 5.25 3 Cytosol Parkinson disease 18 0 PE1 -NX_Q04656 163374 1500 5.85 X Golgi apparatus;Cytoplasmic vesicle;trans-Golgi network membrane;Cell membrane;Cytosol;Endoplasmic reticulum Occipital horn syndrome;Menkes disease;Distal spinal muscular atrophy, X-linked, 3 8 PE1 -NX_Q04671 92850 838 6.84 15 Melanosome membrane Albinism, oculocutaneous, 2 12 PE1 -NX_Q04695 48106 432 4.97 17 Cytoplasm Pachyonychia congenita 2;Steatocystoma multiplex 0 PE1 -NX_Q04721 265405 2471 4.95 1 Cell membrane;Nucleoplasm;Cell membrane;Nucleus;Cytoplasm Hajdu-Cheney syndrome;Alagille syndrome 2 1 PE1 -NX_Q04724 83201 770 6.79 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q04725 79841 743 6.16 19 Nucleus;Focal adhesion;Nucleus NA 0 PE1 -NX_Q04726 83417 772 6.72 15 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q04727 83755 773 7.2 9 Nucleus;Nucleus NA 0 PE1 -NX_Q04741 28039 257 9.85 2 Nucleolus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q04743 28303 252 9.83 10 Nucleus;Nucleus Schizencephaly 0 PE1 -NX_Q04756 70682 655 6.99 4 Secreted NA 0 PE1 -NX_Q04759 81865 706 7.69 10 Microtubule organizing center;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q04760 20778 184 5.12 6 Cell membrane;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q04771 57153 509 7.12 2 Membrane Fibrodysplasia ossificans progressiva 1 PE1 -NX_Q04826 40505 362 6.09 6 Membrane NA 1 PE1 -NX_Q04828 36788 323 8.02 10 Cytoplasm NA 0 PE1 -NX_Q04837 17260 148 9.59 7 Mitochondrion;Mitochondrion;Mitochondrion nucleoid;Mitochondrion NA 0 PE1 -NX_Q04844 54697 493 5.15 17 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 4A, slow-channel;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, 4B, fast-channel 4 PE1 -NX_Q04864 68520 619 5.56 2 Nucleus NA 0 PE1 -NX_Q04900 20917 197 8.3 6 Endosome;Endoplasmic reticulum;Cell membrane;Endosome membrane;Lysosome membrane;Cell membrane;Secreted Deafness, autosomal dominant, 66 1 PE1 -NX_Q04912 152271 1400 6.09 3 Membrane;Cytosol Nasopharyngeal carcinoma, 3 1 PE1 -NX_Q04917 28219 246 4.76 22 Cytoplasm NA 0 PE1 -NX_Q04941 16691 152 6.8 X Membrane NA 4 PE1 -NX_Q05048 48358 431 6.12 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q05066 23884 204 9.55 Y Nucleus;Cytoplasm;Nucleus speckle 46,XX sex reversal 1;46,XY sex reversal 1 0 PE1 -NX_Q05084 54645 483 5.55 7 Cytoplasm;Cytosol;Cytoplasmic vesicle;Cytosol;Golgi apparatus membrane;Secretory vesicle membrane;Synaptic vesicle membrane NA 0 PE1 -NX_Q05086 100688 875 5.12 15 Cytosol;Nucleus;Cytoplasm;Nucleoplasm Angelman syndrome 0 PE1 -NX_Q05193 97408 864 6.73 9 Cytoplasm;Cytoskeleton;Nucleoplasm Epileptic encephalopathy, early infantile, 31 0 PE1 -NX_Q05195 25254 221 8.68 2 Mitochondrion;Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q05209 88106 780 5.4 7 Cytosol;Cytoplasm;Podosome;Focal adhesion;Cell membrane NA 0 PE1 -NX_Q05215 61623 589 8.74 2 Nucleus NA 0 PE2 -NX_Q05315 16453 142 6.83 19 Cytoplasmic granule;Cytosol NA 0 PE1 -NX_Q05329 65411 585 6.45 10 Cytosol;Cytoplasmic vesicle;Presynaptic cell membrane;Golgi apparatus membrane NA 0 PE1 -NX_Q05397 119233 1052 6.19 8 Nucleus;Cytosol;Centrosome;Cytoskeleton;Cell cortex;Cell membrane;Focal adhesion;Cytoplasmic vesicle;Focal adhesion NA 0 PE1 -NX_Q05469 116598 1076 6.25 19 Cell membrane;Cytosol;Caveola;Cytosol Lipodystrophy, familial partial, 6 0 PE1 -NX_Q05481 137217 1191 9.45 19 Nucleus NA 0 PE1 -NX_Q05513 67660 592 5.49 1 Cell membrane;Cytoplasm;Endosome;Cytosol;Cell junction NA 0 PE1 -NX_Q05516 74274 673 6.02 11 Nucleus Skeletal defects, genital hypoplasia, and mental retardation 0 PE1 -NX_Q05519 53542 484 10.52 1 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q05586 105373 938 9.03 9 Cell membrane;Postsynaptic cell membrane;Postsynaptic density Mental retardation, autosomal dominant 8 3 PE1 -NX_Q05639 50470 463 9.11 20 Nucleus Mental retardation, autosomal dominant 38;Epileptic encephalopathy, early infantile, 33 0 PE1 -NX_Q05655 77505 676 7.93 3 Cell membrane;Endoplasmic reticulum;Cytosol;Golgi apparatus;Nucleus;Perinuclear region;Cytoplasm Autoimmune lymphoproliferative syndrome 3 0 PE1 -NX_Q05682 93231 793 5.62 7 Cytoskeleton;Cell membrane;Cytoskeleton;Myofibril;Cytoskeleton NA 0 PE1 -NX_Q05707 193515 1796 5.16 8 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 -NX_Q05823 83533 741 6.2 1 Cytoplasm;Cytosol;Mitochondrion Prostate cancer, hereditary, 1 0 PE1 -NX_Q05901 52729 458 8.15 8 Postsynaptic cell membrane;Cell membrane NA 4 PE2 -NX_Q05923 34400 314 8.24 2 Nucleus;Nucleus membrane;Nucleus NA 0 PE1 -NX_Q05925 40115 392 9.55 2 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q05932 64609 587 8.17 9 Mitochondrion inner membrane;Mitochondrion matrix;Cytoplasm NA 0 PE1 -NX_Q05940 55713 514 5.69 10 Cytoplasmic vesicle membrane NA 12 PE1 -NX_Q05952 15641 138 11.59 16 Nucleus;Chromosome NA 0 PE1 -NX_Q05996 82357 745 6 16 Cell membrane;Extracellular matrix NA 1 PE1 -NX_Q05BQ5 70547 628 7.96 17 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q05BU3 4003 40 11.83 3 NA NA 0 PE5 -NX_Q05BV3 219427 1969 7.87 14 Cytoskeleton NA 0 PE1 -NX_Q05C16 66309 580 9.26 13 Golgi apparatus NA 0 PE2 -NX_Q05D32 52999 466 6.03 15 Nucleoplasm NA 0 PE1 -NX_Q05D60 70977 604 5.87 11 Cytoplasm NA 0 PE1 -NX_Q05DH4 116621 1040 4.76 4 Cytosol NA 0 PE1 -NX_Q06033 99849 890 5.49 3 Secreted NA 0 PE1 -NX_Q06055 14637 141 9.26 12 Mitochondrion membrane NA 2 PE2 -NX_Q06124 68436 597 6.87 12 Nucleus;Cytoplasm;Cytoplasm;Nucleus;Cytoskeleton;Nucleus;Nucleolus;Cytosol LEOPARD syndrome 1;Metachondromatosis;Leukemia, juvenile myelomonocytic;Noonan syndrome 1 0 PE1 -NX_Q06136 36187 332 6.75 18 Endoplasmic reticulum membrane Erythrokeratodermia variabilis et progressiva 4 2 PE1 -NX_Q06141 19395 175 7.56 2 Secreted NA 0 PE1 -NX_Q06187 76281 659 7.83 X Cytoplasm;Cell membrane;Nucleus;Nucleus;Cytoplasmic vesicle;Cytoplasm;Cell membrane X-linked agammaglobulinemia;X-linked hypogammaglobulinemia and isolated growth hormone deficiency 0 PE1 -NX_Q06190 130278 1150 5.09 3 Golgi apparatus NA 0 PE1 -NX_Q06203 57399 517 6.3 4 Midbody ring NA 0 PE1 -NX_Q06210 78806 699 6.66 2 Nucleolus;Nucleus Myasthenic syndrome, congenital, 12 0 PE1 -NX_Q06250 10039 92 11.65 11 NA NA 0 PE5 -NX_Q06265 48949 439 5.19 4 Cytoplasm;Nucleoplasm;Nucleolus;Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q06278 147918 1338 6.79 2 Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_Q06323 28723 249 5.78 14 NA NA 0 PE1 -NX_Q06330 55637 500 6.8 4 Nucleoplasm;Cytoplasm;Nucleus Adams-Oliver syndrome 3 0 PE1 -NX_Q06413 51221 473 8.14 5 Cytoplasmic vesicle;Sarcoplasm;Nucleoplasm;Nucleus Mental retardation, autosomal dominant 20 0 PE1 -NX_Q06416 38588 359 6.26 8 Nucleus NA 0 PE5 -NX_Q06418 96905 890 5.47 15 Cell membrane NA 1 PE1 -NX_Q06432 25028 222 6.64 17 Membrane NA 4 PE1 -NX_Q06455 67566 604 8.15 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q06481 86956 763 4.73 11 Cell membrane;Nucleus;Cytoplasmic vesicle;Cell membrane;Nucleus NA 1 PE1 -NX_Q06495 68937 639 8.99 5 Apical cell membrane Nephrolithiasis/osteoporosis, hypophosphatemic, 1;Fanconi renotubular syndrome 2;Hypercalcemia, infantile, 2 8 PE1 -NX_Q06520 33780 285 5.71 19 Cytosol;Cytoplasm NA 0 PE1 -NX_Q06546 51295 454 4.87 21 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q06547 42483 395 4.77 15 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q06587 42429 406 5.44 6 Cytosol;Nucleoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q06609 36966 339 5.44 15 Cytosol;Nucleolus;Mitochondrion;Nucleus;Cytoplasm;Perinuclear region;Mitochondrion matrix;Centrosome Fanconi anemia, complementation group R;Mirror movements 2;Breast cancer 0 PE1 -NX_Q06643 25390 244 5.25 6 Centrosome;Membrane NA 1 PE1 -NX_Q06710 48218 450 7.72 2 Nucleoplasm;Nucleus Hypothyroidism, congenital, non-goitrous, 2 0 PE1 -NX_Q06730 94384 810 8.42 10 Nucleus NA 0 PE1 -NX_Q06732 90683 778 8.6 10 Nucleus NA 0 PE1 -NX_Q06787 71174 632 7 X Cytoplasm;Perinuclear region;Cytosol;Cajal body;Nucleolus;Centromere;Chromosome;Cytoplasmic granule;Perikaryon;Cell projection;Axon;Nucleus;Cell membrane;Presynaptic cell membrane;Postsynaptic cell membrane;Synapse;Filopodium tip;Growth cone;Synaptosome;Dendritic spine;Cytoplasm;Dendrite Fragile X syndrome;Premature ovarian failure 1;Fragile X tremor/ataxia syndrome 0 PE1 -NX_Q06828 43179 376 5.66 1 Extracellular matrix NA 0 PE1 -NX_Q06830 22110 199 8.27 1 Melanosome;Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q06889 42613 387 8.62 8 Nucleus;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q06945 47263 474 6.87 6 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q07000 40863 366 5.92 6 Membrane NA 1 PE1 -NX_Q07001 58895 517 6.12 2 Cell membrane;Postsynaptic cell membrane Multiple pterygium syndrome, lethal type;Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, 3B, fast-channel;Myasthenic syndrome, congenital, 3A, slow-channel 4 PE1 -NX_Q07002 54180 472 8.84 1 Cytoskeleton NA 0 PE1 -NX_Q07011 27899 255 8.12 1 Cell membrane;Nucleolus;Membrane NA 1 PE1 -NX_Q07020 21634 188 11.73 19 Nucleolus;Cytoplasm;Nucleus;Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_Q07021 31362 282 4.74 17 Mitochondrion;Cell membrane;Mitochondrion matrix;Nucleus;Cell membrane;Secreted;Cytoplasm;Nucleolus;Cell membrane;Mitochondrion NA 0 PE1 -NX_Q07065 66022 602 5.63 12 Endoplasmic reticulum membrane;Cytosol;Perinuclear region;Cell membrane;Cytoskeleton;Nucleus speckle;Cytosol NA 1 PE1 -NX_Q07075 109244 957 5.31 4 Membrane NA 1 PE1 -NX_Q07092 157751 1604 8.14 1 Cytosol;Golgi apparatus;Cell membrane;Extracellular matrix NA 0 PE1 -NX_Q07108 22559 199 6.16 12 Membrane NA 1 PE1 -NX_Q07157 195459 1748 6.24 15 Cell membrane;Golgi apparatus;Gap junction;Cell membrane;Tight junction;Cell junction;Cell junction NA 0 PE1 -NX_Q07283 253925 1943 5.73 1 NA Uncombable hair syndrome 3 0 PE1 -NX_Q07325 14019 125 10.39 4 Secreted NA 0 PE1 -NX_Q07326 24890 219 8.88 2 Endoplasmic reticulum membrane NA 6 PE1 -NX_Q07343 83343 736 5.09 1 NA NA 0 PE1 -NX_Q07352 36314 338 8.12 14 P-body;Nucleus;Cytoplasm;Cytoplasmic granule NA 0 PE1 -NX_Q07444 27100 240 8.36 12 Cytoplasmic vesicle;Membrane NA 1 PE2 -NX_Q07507 24005 201 4.7 1 Extracellular matrix;Cytoplasmic vesicle NA 0 PE1 -NX_Q075Z2 15693 132 6.8 19 Secreted NA 0 PE1 -NX_Q07617 103639 926 6.46 8 Cytosol;Cytoplasm Ciliary dyskinesia, primary, 28 0 PE1 -NX_Q07627 18235 177 5.55 17 NA NA 0 PE1 -NX_Q07654 8641 80 5.66 21 Extracellular matrix;Cytoplasm NA 0 PE1 -NX_Q07666 48227 443 8.73 1 Nucleus;Membrane;Nucleoplasm NA 0 PE1 -NX_Q07687 34243 328 9.25 2 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q07699 24707 218 4.88 19 Cell membrane;Secreted Atrial fibrillation, familial, 13;Epileptic encephalopathy, early infantile, 52;Generalized epilepsy with febrile seizures plus 1;Brugada syndrome 5 1 PE1 -NX_Q07812 21184 192 5.08 19 Mitochondrion membrane;Cytoplasm NA 1 PE1 -NX_Q07817 26049 233 4.86 20 Mitochondrion inner membrane;Mitochondrion;Mitochondrion outer membrane;Mitochondrion matrix;Synaptic vesicle membrane;Cytosol;Nucleus membrane;Centrosome NA 1 PE1 -NX_Q07820 37337 350 5.51 1 Mitochondrion;Membrane;Cytoplasm;Mitochondrion;Nucleoplasm NA 1 PE1 -NX_Q07837 78852 685 5.61 2 Membrane Hypotonia-cystinuria syndrome;Cystinuria 1 PE1 -NX_Q07864 261518 2286 5.98 12 Cell membrane;Nucleus;Nucleus Facial dysmorphism, immunodeficiency, livedo, and short stature;Colorectal cancer 12 0 PE1 -NX_Q07866 65310 573 5.87 14 Growth cone;Cell membrane;Cytoplasmic vesicle;Cytoskeleton;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q07869 52225 468 5.86 22 Nucleus;Nucleus NA 0 PE1 -NX_Q07889 152464 1333 6.38 2 Cytosol;Nucleolus;Nucleus Fibromatosis, gingival, 1;Noonan syndrome 4 0 PE1 -NX_Q07890 152979 1332 6.39 14 Cytoplasmic vesicle;Nucleoplasm Noonan syndrome 9 0 PE1 -NX_Q07912 114569 1038 6.84 3 Endosome;Adherens junction;Cytoplasmic vesicle membrane;Clathrin-coated vesicle;Nucleus;Cell membrane;Cytosol;Perinuclear region;Clathrin-coated pit NA 0 PE1 -NX_Q07954 504606 4544 5.16 12 Cell membrane;Cytosol;Cytoplasm;Nucleus;Coated pit;Cell membrane;Coated pit;Nucleolus Keratosis pilaris atrophicans 1 PE1 -NX_Q07955 27745 248 10.37 17 Nucleus speckle;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q07960 50436 439 5.85 11 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q07973 58875 514 8.94 20 Mitochondrion;Cell membrane;Mitochondrion;Nucleoplasm Hypercalcemia, infantile, 1 0 PE1 -NX_Q08043 103241 901 5.37 11 NA NA 0 PE1 -NX_Q08050 84283 763 8 12 Cytosol;Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q08116 23858 209 8.8 1 Cytosol;Cell membrane NA 0 PE1 -NX_Q08117 21970 197 5.9 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q08170 56678 494 11.52 1 Nucleus speckle;Nucleus speckle NA 0 PE1 -NX_Q08174 114743 1060 4.91 5 Nucleolus;Cell junction;Cell junction;Cell membrane;Nucleus NA 1 PE1 -NX_Q08188 76632 693 5.62 20 Cytoplasm Uncombable hair syndrome 2 0 PE1 -NX_Q08209 58688 521 5.58 4 Nucleus;Sarcolemma;Cell membrane;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q08211 140958 1270 6.41 1 Nucleus;Nucleoplasm;Nucleus;Nucleolus;Cytoplasm;Centrosome NA 0 PE1 -NX_Q08257 35207 329 8.56 1 Cytoplasm;Cytosol NA 0 PE1 -NX_Q08289 73581 660 8.11 10 Sarcolemma Brugada syndrome 4 0 PE1 -NX_Q08334 36995 325 5.03 21 Cytosol;Membrane Inflammatory bowel disease 25 1 PE1 -NX_Q08345 101128 913 6.38 6 Nucleoplasm;Cell junction;Secreted;Cell membrane NA 1 PE1 -NX_Q08357 70392 652 6.09 8 Cell membrane;Cell membrane;Cytoplasm Basal ganglia calcification, idiopathic, 1 12 PE1 -NX_Q08378 167355 1498 5.34 12 Nucleus;Golgi stack membrane;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q08379 113086 1002 5 9 cis-Golgi network membrane;Golgi apparatus;Spindle pole NA 0 PE1 -NX_Q08380 65331 585 5.13 17 Extracellular matrix;Secreted NA 0 PE1 -NX_Q08397 63110 574 7.25 15 Endoplasmic reticulum;Extracellular space Exfoliation syndrome 0 PE1 -NX_Q08426 79495 723 9.24 3 Peroxisome Fanconi renotubular syndrome 3 0 PE1 -NX_Q08431 43123 387 8.47 15 Nucleus;Cytoplasm;Cytosol;Membrane;Secreted NA 0 PE1 -NX_Q08462 123603 1091 8.4 5 Membrane;Cell membrane;Cytoplasm NA 12 PE1 -NX_Q08477 59847 520 7.57 19 Microsome membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q08493 79902 712 5.06 19 Cilium NA 0 PE1 -NX_Q08495 45514 405 8.94 8 Cytoplasm;Cytosol;Perinuclear region;Cytoskeleton;Cell membrane;Endomembrane system;Cell projection;Membrane NA 0 PE1 -NX_Q08499 91115 809 5.31 5 Apical cell membrane;Nucleus membrane;Cytosol;Membrane;Cytoplasm;Cell membrane;Cytoskeleton;Centrosome Acrodysostosis 2, with or without hormone resistance 0 PE1 -NX_Q08554 99987 894 5.25 18 Cell membrane;Desmosome NA 1 PE1 -NX_Q08623 25249 228 5.18 X NA NA 0 PE1 -NX_Q08629 49124 439 5.74 5 Extracellular matrix;Cytoplasmic vesicle NA 0 PE1 -NX_Q08648 11431 103 11.49 8 Secreted NA 0 PE1 -NX_Q08708 24830 224 9.38 17 Cell membrane NA 1 PE2 -NX_Q08722 35214 323 6.82 3 Golgi apparatus;Cell membrane;Cytoplasmic vesicle;Cell membrane NA 5 PE1 -NX_Q08752 40764 370 6.77 4 Nucleolus;Nucleoplasm;Nucleolus;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q08828 123440 1119 8.77 7 Mitochondrion;Cell membrane;Cytoplasm;Membrane raft;Membrane Deafness, autosomal recessive, 44 12 PE1 -NX_Q08830 36379 312 5.58 8 Secreted NA 0 PE1 -NX_Q08881 71831 620 7.51 5 Cytoplasm;Nucleus Lymphoproliferative syndrome 1 0 PE1 -NX_Q08945 81075 709 6.45 11 Cytosol;Nucleus;Nucleolus;Chromosome;Nucleus NA 0 PE1 -NX_Q08999 128367 1139 7.27 16 Cytosol;Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q08AD1 168089 1489 6.36 1 Cytosol;Cytoskeleton;Golgi apparatus;Cytoskeleton NA 0 PE1 -NX_Q08AE8 85544 756 8.89 18 Endosome;Cytosol;Cytoskeleton;Perinuclear region;Cell membrane;Cytoplasmic vesicle membrane;Nucleoplasm NA 0 PE1 -NX_Q08AF3 101055 891 8.54 17 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q08AF8 48405 430 5.41 15 NA NA 0 PE5 -NX_Q08AG5 76934 666 9.14 19 Nucleus NA 0 PE1 -NX_Q08AG7 8479 82 4.76 13 Centrosome;Spindle NA 0 PE1 -NX_Q08AH1 65273 577 8.54 16 Mitochondrion matrix NA 0 PE1 -NX_Q08AH3 64223 577 8.34 16 Mitochondrion matrix NA 0 PE1 -NX_Q08AI6 44825 406 6.12 2 Membrane NA 10 PE2 -NX_Q08AI8 49565 447 6.02 2 Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q08AM6 87973 782 5.76 16 Endosome membrane;Microsome membrane;Cytoplasmic vesicle;Cytosol Striatonigral degeneration, childhood-onset 0 PE1 -NX_Q08AN1 90273 781 9.66 19 Centrosome;Nucleus NA 0 PE1 -NX_Q08E93 13507 113 11.89 9 NA NA 0 PE1 -NX_Q08ER8 68404 600 8.18 19 Nucleus;Nucleus speckle;Cytosol NA 0 PE1 -NX_Q08ET2 43970 396 8.24 19 Cell membrane NA 1 PE1 -NX_Q08J23 86471 767 6.33 5 Nucleolus;Nucleus;Spindle Mental retardation, autosomal recessive 5 0 PE1 -NX_Q09013 69385 629 4.92 19 Cytosol;Endoplasmic reticulum membrane;Nucleus outer membrane;Mitochondrion outer membrane;Cytoplasmic vesicle;Sarcoplasmic reticulum membrane;Cell membrane;Cytosol;Mitochondrion membrane Dystrophia myotonica 1 1 PE1 -NX_Q09019 70438 674 6.9 19 Nucleus;Cytoskeleton;Dendrite;Perikaryon;Cell membrane NA 0 PE1 -NX_Q09028 47656 425 4.74 1 Nucleus NA 0 PE1 -NX_Q09160 40792 365 5.9 6 Membrane NA 1 PE1 -NX_Q09161 91839 790 5.99 9 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q09327 61313 533 8.54 22 Golgi apparatus membrane NA 1 PE1 -NX_Q09328 84543 741 8.41 2 Golgi apparatus membrane NA 1 PE1 -NX_Q09428 176992 1581 7.99 11 Golgi apparatus;Cytosol;Nucleolus;Cell membrane Diabetes mellitus, permanent neonatal;Transient neonatal diabetes mellitus 2;Leucine-induced hypoglycemia;Familial hyperinsulinemic hypoglycemia 1 17 PE1 -NX_Q09470 56466 495 5.08 12 Cell membrane;Membrane;Axon;Cytoplasmic vesicle;Presynaptic cell membrane;Perikaryon;Endoplasmic reticulum;Dendrite;Cell junction;Synapse Episodic ataxia 1;Myokymia isolated 1 6 PE1 -NX_Q09472 264161 2414 8.81 22 Nucleoplasm;Cytoplasm;Nucleus;Chromosome Rubinstein-Taybi syndrome 2 0 PE1 -NX_Q09666 629101 5890 5.8 11 Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q09FC8 68798 603 9.16 19 Nucleolus;Nucleus;Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q09MP3 133907 1159 7.11 2 NA NA 0 PE1 -NX_Q0D2H9 48423 430 5.41 15 NA NA 0 PE5 -NX_Q0D2I5 61979 559 4.83 12 NA NA 0 PE1 -NX_Q0D2J5 46099 394 9.32 19 Nucleus NA 0 PE2 -NX_Q0D2K0 50058 466 7.09 5 Membrane Ichthyosis, congenital, autosomal recessive 6 9 PE1 -NX_Q0D2K2 63976 578 5.59 2 Microtubule organizing center NA 0 PE1 -NX_Q0D2K3 16379 151 4.32 X Nucleus NA 0 PE1 -NX_Q0D2K5 21632 195 8.36 3 NA NA 0 PE5 -NX_Q0GE19 39485 358 9.54 4 Nucleolus;Membrane NA 10 PE1 -NX_Q0IIM8 128709 1120 5.66 X Cytosol NA 0 PE1 -NX_Q0IIN9 22478 211 8.78 8 NA NA 0 PE5 -NX_Q0JRZ9 88924 810 6.42 5 Clathrin-coated pit;Cytoplasmic vesicle;Centrosome;Cytosol NA 0 PE1 -NX_Q0P140 8416 79 4.93 1 NA NA 0 PE5 -NX_Q0P5N6 20936 197 8.57 17 NA NA 0 PE1 -NX_Q0P5P2 13463 114 9.39 17 Secreted NA 0 PE1 -NX_Q0P641 22038 193 9.47 2 Golgi apparatus NA 0 PE2 -NX_Q0P651 46954 414 9.37 4 Secreted;Nucleus membrane NA 0 PE1 -NX_Q0P670 57131 501 9.69 17 Membrane NA 1 PE1 -NX_Q0P6D2 46420 419 6.38 18 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q0P6D6 110484 951 6.05 11 Cell membrane;Cytosol NA 0 PE1 -NX_Q0P6H9 73133 643 9.34 15 Nucleus;Cytosol;Nucleolus;Membrane;Nucleus NA 6 PE1 -NX_Q0PNE2 29793 266 6.36 3 Nucleus;Cytosol;Centrosome NA 0 PE1 -NX_Q0VAA2 54535 488 5.22 14 NA NA 0 PE1 -NX_Q0VAA5 34777 305 9.51 3 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q0VAF6 14405 134 8.11 19 Secretory vesicle membrane NA 0 PE1 -NX_Q0VAK6 64914 560 5.42 3 Cytoskeleton;Cytoplasm;M line;A band Nemaline myopathy 10 0 PE1 -NX_Q0VAM2 55359 473 8.19 4 Nucleus;Early endosome;Late endosome;Midbody NA 0 PE1 -NX_Q0VAQ4 10679 97 4.21 12 Cytoplasmic vesicle membrane;Cell membrane;Cell membrane;Nucleoplasm NA 1 PE1 -NX_Q0VD83 114874 1088 4.38 16 Cell membrane NA 0 PE1 -NX_Q0VD86 26817 236 6.92 17 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q0VDD5 6478 57 11.21 17 NA NA 0 PE5 -NX_Q0VDD7 69556 668 4.71 19 Nucleoplasm NA 0 PE1 -NX_Q0VDD8 399895 3507 6.52 1 Centrosome;Cilium axoneme NA 0 PE1 -NX_Q0VDE8 9465 80 4.68 20 Membrane;Nucleus NA 1 PE2 -NX_Q0VDF9 54794 509 5.41 10 Cytosol NA 0 PE1 -NX_Q0VDG4 48544 424 5.38 2 Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q0VDI3 24217 215 8.91 5 Membrane;Nucleoplasm NA 3 PE1 -NX_Q0VF49 135305 1180 8.53 2 NA NA 0 PE1 -NX_Q0VF96 149079 1302 5.51 15 Cell junction;Tight junction Aromatase excess syndrome 0 PE1 -NX_Q0VFX4 18056 171 8.78 12 NA NA 0 PE2 -NX_Q0VFZ6 66403 552 8.92 2 NA NA 0 PE1 -NX_Q0VG06 93433 881 5.12 17 Cytosol;Nucleus;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q0VG73 10763 95 6.38 3 NA NA 0 PE5 -NX_Q0VG99 41760 397 7.05 15 Nucleus Spondylocostal dysostosis 2, autosomal recessive 0 PE1 -NX_Q0VGE8 75725 651 9.44 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q0VGL1 10741 99 6.07 7 Lysosome;Cytoplasmic vesicle NA 0 PE1 -NX_Q0WX57 59711 530 8.35 4 Nucleolus;Endoplasmic reticulum NA 0 PE1 -NX_Q0Z7S8 15093 132 7.79 8 Cytoplasm NA 0 PE1 -NX_Q0ZGT2 80658 675 5.31 1 Cytoplasm;Cell membrane;Adherens junction;Z line;Cytoskeleton Cardiomyopathy, dilated 1CC;Cardiomyopathy, familial hypertrophic 20 0 PE1 -NX_Q0ZLH3 39913 352 9.18 2 Mitochondrion Deafness, autosomal recessive, 59 0 PE1 -NX_Q10469 51550 447 8.99 14 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2A 1 PE1 -NX_Q10471 64733 571 8.63 1 Golgi apparatus;Golgi apparatus;Golgi stack membrane;Secreted NA 1 PE1 -NX_Q10472 64219 559 7.83 18 Secreted;Golgi stack membrane NA 1 PE1 -NX_Q10567 104637 949 4.94 22 Golgi apparatus;Cytoplasmic vesicle;Golgi apparatus;Clathrin-coated vesicle membrane NA 0 PE1 -NX_Q10570 160884 1443 5.99 8 Nucleoplasm;Nucleoplasm NA 0 PE1 -NX_Q10571 136001 1320 6.22 22 Nucleoplasm NA 0 PE1 -NX_Q10586 34349 325 9.34 19 Nucleus NA 0 PE1 -NX_Q10587 33248 303 5.81 22 Nucleus NA 0 PE1 -NX_Q10588 35724 318 7.97 4 Cell membrane NA 0 PE1 -NX_Q10589 19769 180 5.43 19 Cell membrane;Cell membrane;Cytosol;Cell membrane;Apical cell membrane;trans-Golgi network;Golgi apparatus;Late endosome;Membrane raft;Cytoplasm NA 1 PE1 -NX_Q10713 58253 525 6.45 9 Mitochondrion matrix;Mitochondrion inner membrane;Mitochondrion Spinocerebellar ataxia, autosomal recessive, 2 0 PE1 -NX_Q107X0 14401 134 9.73 19 Cytoplasm;Nucleus NA 0 PE5 -NX_Q10981 39017 343 8.69 19 Golgi stack membrane;Cell membrane;Cytosol NA 1 PE1 -NX_Q11128 43008 374 8.54 19 Golgi stack membrane NA 1 PE2 -NX_Q11130 39239 342 10.07 9 Golgi stack membrane;Golgi apparatus NA 1 PE1 -NX_Q11201 39075 340 9.21 8 Secreted;Golgi stack membrane NA 1 PE1 -NX_Q11203 42171 375 9.1 1 Golgi stack membrane;Secreted Mental retardation, autosomal recessive 12;Epileptic encephalopathy, early infantile, 15 1 PE1 -NX_Q11206 38045 333 9.45 11 Secreted;Golgi stack membrane NA 1 PE1 -NX_Q12756 191064 1690 5.86 2 Cytosol;Cytoskeleton Mental retardation, autosomal dominant 9;Neuropathy, hereditary sensory, 2C;Spastic paraplegia 30, autosomal recessive 0 PE1 -NX_Q12765 46382 414 4.66 7 Cytoplasm;Cytosol NA 0 PE1 -NX_Q12766 168334 1538 8.39 5 Nucleolus;Nucleus NA 0 PE1 -NX_Q12767 151151 1356 5.99 17 Membrane NA 10 PE1 -NX_Q12768 134286 1159 6.54 8 Early endosome;Cytosol;Endoplasmic reticulum;Nucleoplasm Ritscher-Schinzel syndrome 1;Spastic paraplegia 8, autosomal dominant 0 PE1 -NX_Q12769 162121 1436 5.31 11 Nuclear pore complex NA 0 PE1 -NX_Q12770 139729 1279 6.41 3 Endoplasmic reticulum membrane;Golgi apparatus membrane;COPII-coated vesicle membrane NA 8 PE1 -NX_Q12772 123688 1141 8.72 22 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Mitochondrion;COPII-coated vesicle membrane;Nucleus;Golgi apparatus membrane;Nucleoplasm NA 2 PE1 -NX_Q12774 176799 1597 5.37 7 Cytosol;Nucleoplasm;Cell membrane;Cytoplasm;Nucleus;Podosome NA 0 PE1 -NX_Q12778 69662 655 6.28 13 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Rhabdomyosarcoma 2 0 PE1 -NX_Q12788 89035 808 6.44 16 Nucleolus;Nucleolus NA 0 PE1 -NX_Q12789 238875 2109 7.01 16 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q12791 137560 1236 6.66 10 Cell membrane Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 7 PE1 -NX_Q12792 40283 350 6.48 12 Cytoplasm;Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q12794 48368 435 6.31 3 Lysosome;Secreted Mucopolysaccharidosis 9 0 PE1 -NX_Q12796 35225 327 10.51 6 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q12797 85863 758 4.92 8 Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane;Endoplasmic reticulum Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs 1 PE1 -NX_Q12798 19570 172 4.79 18 Centrosome NA 0 PE1 -NX_Q12799 38267 353 8.46 6 NA NA 0 PE2 -NX_Q12800 57256 502 5.53 12 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q12802 307550 2813 5.12 15 Cytosol;Cytosol;Cytoplasm;Cell cortex;Nucleus;Membrane NA 0 PE1 -NX_Q12805 54641 493 4.95 2 Mitochondrion;Extracellular space;Extracellular matrix Doyne honeycomb retinal dystrophy 0 PE1 -NX_Q12809 126655 1159 8.2 7 Cell membrane Long QT syndrome 2;Short QT syndrome 1 6 PE1 -NX_Q12815 83857 778 7.2 12 Cytoplasm NA 0 PE1 -NX_Q12816 143716 1431 9.18 X Nucleus;Nucleolus NA 0 PE1 -NX_Q12824 44141 385 5.86 22 Nucleus;Nucleolus;Nucleoplasm Schwannomatosis 1;Coffin-Siris syndrome 3;Rhabdoid tumor predisposition syndrome 1 0 PE1 -NX_Q12829 30956 278 9.68 17 Cell membrane NA 0 PE1 -NX_Q12830 338262 3046 6.15 17 Cytoplasm;Nucleus NA 0 PE1 -NX_Q12834 54723 499 9.33 1 Cytosol;Nucleoplasm;Centrosome;Spindle pole NA 0 PE1 -NX_Q12836 59400 540 6.23 1 Extracellular matrix;Cell membrane NA 1 PE1 -NX_Q12837 43087 409 9.33 4 Nucleus speckle;Nucleus;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q12840 117378 1032 5.65 12 Spindle;Perinuclear region;Cytoskeleton;Nucleoplasm;Cytosol Myoclonus, intractable, neonatal;Spastic paraplegia 10, autosomal dominant 0 PE1 -NX_Q12841 34986 308 5.39 3 Cytosol;Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_Q12846 34180 297 5.92 16 Cell membrane;Cell membrane NA 1 PE1 -NX_Q12849 53126 480 5.83 4 Cytoplasm;Mitochondrion;Cytoplasm;Mitochondrion nucleoid NA 0 PE1 -NX_Q12851 91556 820 5.91 11 Cytoplasm;Golgi apparatus membrane;Cytoplasmic vesicle;Basolateral cell membrane NA 0 PE1 -NX_Q12852 93219 859 6.03 12 Nucleus;Cytoplasm;Membrane;Cell junction NA 0 PE1 -NX_Q12857 55944 509 8.66 1 Nucleoplasm;Nucleus Brain malformations and urinary tract defects 0 PE1 -NX_Q12860 113320 1018 5.62 12 Cell membrane Myopathy, congenital, Compton-North 0 PE1 -NX_Q12864 92219 832 4.99 8 Cell junction;Cell membrane NA 1 PE1 -NX_Q12866 110249 999 5.51 2 Endoplasmic reticulum;Membrane;Cytosol;Cell membrane Retinitis pigmentosa 38 1 PE1 -NX_Q12870 20816 199 9.97 20 Nucleus speckle;Nucleus NA 0 PE2 -NX_Q12872 104822 951 8.11 12 Cytosol;Nucleus;Cell membrane;Nucleus NA 0 PE1 -NX_Q12873 226592 2000 6.92 17 Microtubule organizing center;Nucleus;Centrosome;Nucleus;Nucleolus NA 0 PE1 -NX_Q12874 58849 501 5.27 1 Nucleus speckle;Nucleoplasm NA 0 PE1 -NX_Q12879 165283 1464 6.67 16 Cell membrane;Postsynaptic cell membrane Epilepsy, focal, with speech disorder and with or without mental retardation 3 PE1 -NX_Q12882 111401 1025 6.8 1 Cytoplasm Dihydropyrimidine dehydrogenase deficiency 0 PE1 -NX_Q12884 87713 760 6.21 2 Cell surface;Cell membrane;Lamellipodium membrane;Invadopodium membrane;Ruffle membrane;Membrane;Secreted;Cytoplasm NA 1 PE1 -NX_Q12887 48910 443 9.36 17 Mitochondrion membrane;Nucleolus;Cytosol;Mitochondrion Mitochondrial complex IV deficiency;Leigh syndrome 7 PE1 -NX_Q12888 213574 1972 4.62 15 Chromosome;Kinetochore;Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q12889 75421 678 8.9 1 Secretory vesicle NA 0 PE1 -NX_Q12891 53860 473 8.47 3 Cell membrane;Endoplasmic reticulum NA 0 PE1 -NX_Q12893 38197 351 8.31 3 Golgi apparatus;Golgi stack membrane NA 4 PE1 -NX_Q12894 54814 506 8.21 3 Nucleoplasm NA 0 PE1 -NX_Q12899 62166 539 4.98 6 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q12901 62081 538 8.81 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q12904 34353 312 8.61 4 Cytosol;Golgi apparatus;Nucleus;Cytosol;Secretory vesicle;Secreted;Endoplasmic reticulum Leukodystrophy, hypomyelinating, 3 0 PE1 -NX_Q12905 43062 390 5.19 1 Nucleus;Nucleolus;Nucleolus;Nucleolus;Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q12906 95338 894 8.86 19 Nucleus;Cytoplasm;Nucleolus;Nucleolus;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q12907 40229 356 6.46 5 Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q12908 37714 348 6.79 13 Membrane Primary bile acid malabsorption 7 PE1 -NX_Q12912 62122 555 5.62 12 Nucleus;Cytosol;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cytoplasm;Membrane;Nucleus envelope;Centrosome;Spindle pole;Chromosome NA 1 PE1 -NX_Q12913 145941 1337 5.38 11 Cell membrane;Ruffle membrane;Cell junction NA 1 PE1 -NX_Q12918 25415 225 5.95 12 Membrane;Nucleoplasm;Cytosol NA 1 PE1 -NX_Q12923 276906 2485 5.99 4 Nucleus;Cell membrane;Lamellipodium;Cytoskeleton;Cytosol NA 0 PE1 -NX_Q12926 39504 359 9.22 9 NA NA 0 PE1 -NX_Q12929 91882 822 7.1 12 Synaptosome;Golgi apparatus;Cell cortex;Ruffle membrane;Growth cone;Stereocilium Deafness, autosomal recessive, 102 0 PE1 -NX_Q12931 80110 704 8.3 16 Mitochondrion;Mitochondrion matrix;Mitochondrion inner membrane;Mitochondrion NA 0 PE1 -NX_Q12933 55859 501 7.66 9 Cytosol;Cytoplasm NA 0 PE1 -NX_Q12934 74544 665 5.09 20 Cytosol;Cell membrane;Cytoskeleton;Cell cortex;Cell membrane Cataract 33, multiple types 0 PE1 -NX_Q12946 40122 379 9.24 16 Nucleus;Nucleoplasm Alveolar capillary dysplasia with misalignment of pulmonary veins 0 PE1 -NX_Q12947 45993 444 9.2 6 Nucleus NA 0 PE1 -NX_Q12948 56789 553 8.7 6 Nucleus;Nucleoplasm;Cytosol Axenfeld-Rieger syndrome 3;Anterior segment dysgenesis 3 0 PE1 -NX_Q12950 47309 439 9.38 9 Nucleus NA 0 PE2 -NX_Q12951 40973 378 5.89 5 Nucleus;Nucleolus;Cytoplasmic vesicle NA 0 PE1 -NX_Q12952 36490 345 9.64 16 Nucleus NA 0 PE1 -NX_Q12955 480410 4377 6.07 10 Postsynaptic cell membrane;Cytoskeleton;Axon;Cell membrane;Golgi apparatus;Sarcolemma;Lysosome Mental retardation, autosomal recessive 37 0 PE1 -NX_Q12959 100455 904 5.51 3 Cytoplasmic vesicle;Cell membrane;Postsynaptic density;Synapse;Sarcolemma;Membrane;Basolateral cell membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_Q12962 21711 218 6.12 11 Nucleus;Nucleus NA 0 PE1 -NX_Q12965 127062 1108 9.01 15 Cytoplasm;Cytoskeleton;Cytoplasmic vesicle;Clathrin-coated vesicle;Cell junction Focal segmental glomerulosclerosis 6 0 PE1 -NX_Q12967 100607 914 5.52 9 Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q12968 115594 1075 5.91 16 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q12972 38479 351 6.87 1 Nucleus speckle;Nucleus;Nucleus speckle;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q12974 19127 167 8.67 1 Cytoplasm;Early endosome;Cell membrane NA 0 PE1 -NX_Q12979 97598 859 6.12 17 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q12980 63605 569 6.5 16 Cytosol;Lysosome membrane Epilepsy, familial focal, with variable foci 3 0 PE1 -NX_Q12981 26132 228 9.06 5 Endoplasmic reticulum;Endoplasmic reticulum membrane;Mitochondrion NA 1 PE1 -NX_Q12982 36018 314 4.7 15 Cytoplasm;Perinuclear region NA 0 PE1 -NX_Q12983 27832 259 6.66 10 Cytosol;Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_Q12986 124395 1120 8.67 9 Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_Q12988 16966 150 5.66 5 Nucleus speckle;Cytoplasm;Nucleus Neuronopathy, distal hereditary motor, 2C 0 PE1 -NX_Q12996 82922 717 8.26 11 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q12999 23053 210 8.3 12 Membrane NA 4 PE2 -NX_Q13002 102583 908 8.05 6 Cell membrane;Postsynaptic cell membrane Mental retardation, autosomal recessive 6 3 PE1 -NX_Q13003 104037 919 7.28 1 Cell membrane;Postsynaptic cell membrane NA 3 PE1 -NX_Q13007 23825 206 8.95 1 Secreted NA 0 PE1 -NX_Q13009 177508 1591 6.17 21 Nucleoplasm;Cell junction;Cytosol;Nucleus membrane;Cell junction;Cell membrane NA 0 PE1 -NX_Q13011 35816 328 8.16 19 Mitochondrion;Mitochondrion;Peroxisome NA 0 PE1 -NX_Q13015 10061 90 4.39 1 Cytoplasm;Cytosol;Nucleus;Cytoplasm;Centrosome;Nucleoplasm NA 0 PE1 -NX_Q13017 172460 1502 6.18 14 Cytoplasm;Endoplasmic reticulum;Cytosol;Membrane NA 0 PE1 -NX_Q13018 168600 1463 5.73 2 Secreted;Cell membrane;Cytosol;Secreted NA 1 PE1 -NX_Q13021 17350 153 6.15 2 Membrane NA 4 PE1 -NX_Q13023 256720 2319 4.9 14 Sarcoplasmic reticulum;Nucleus membrane NA 0 PE1 -NX_Q13029 188915 1718 7.02 1 Nucleus;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q13033 87209 797 5.17 14 Cytosol;Nucleoplasm;Cytoplasm;Membrane;Cytoskeleton NA 0 PE1 -NX_Q13042 71656 620 5.55 13 Cytoplasm;Centrosome;Spindle NA 0 PE1 -NX_Q13043 55630 487 4.97 20 Cytoplasm;Nucleus;Cytosol;Nucleus;Nucleoplasm;Cytoplasm;Nucleus T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations 0 PE1 -NX_Q13045 144751 1269 5.75 17 Cytosol;Nucleus;Nucleoplasm;Centrosome;Microtubule organizing center;Cytoskeleton;Focal adhesion NA 0 PE1 -NX_Q13046 47001 419 8.66 19 Secreted NA 0 PE5 -NX_Q13049 71989 653 6.59 9 Cytoplasm;Cytoskeleton Limb-girdle muscular dystrophy 2H;Bardet-Biedl syndrome 11 0 PE1 -NX_Q13057 62329 564 6.51 17 Cytosol;Nucleoplasm;Cytoplasm;Mitochondrion matrix Neurodegeneration with brain iron accumulation 6 0 PE1 -NX_Q13061 81595 729 9.42 6 Cell membrane;Cytosol;Cell membrane;Sarcoplasmic reticulum membrane Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 1 PE1 -NX_Q13064 55645 507 5.52 15 Nucleoplasm;Cytosol;Cell membrane Precocious puberty, central 2 0 PE1 -NX_Q13065 15610 139 4.39 X NA NA 0 PE1 -NX_Q13066 12786 116 4.34 X NA NA 0 PE1 -NX_Q13068 12885 117 4.12 X Nucleus;Cytoplasm NA 0 PE1 -NX_Q13069 12924 117 4.19 X NA NA 0 PE1 -NX_Q13070 12892 117 4.19 X NA NA 0 PE1 -NX_Q13072 4810 43 5 13 Secreted NA 0 PE2 -NX_Q13075 159582 1403 5.68 5 NA NA 0 PE1 -NX_Q13077 46164 416 5.77 9 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q13084 30157 256 8.34 16 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q13085 265554 2346 5.95 17 Cytoskeleton;Nucleolus;Cytoplasm;Cytosol Acetyl-CoA carboxylase 1 deficiency 0 PE1 -NX_Q13087 58206 525 4.89 16 Cytosol;Endoplasmic reticulum lumen;Nucleoplasm NA 0 PE1 -NX_Q13093 50077 441 7.23 6 Extracellular space;Cytoplasmic vesicle Asthma;Platelet-activating factor acetylhydrolase deficiency;Atopic hypersensitivity 0 PE1 -NX_Q13094 60188 533 5.89 5 Cytoplasm NA 0 PE1 -NX_Q13098 55537 491 6.3 17 Cytoplasm;Nucleus NA 0 PE1 -NX_Q13099 94270 833 6.2 13 Centriole;Cilium;Cilium basal body NA 0 PE1 -NX_Q13103 24338 211 8.59 2 Secreted NA 0 PE1 -NX_Q13105 87928 803 6 1 Nucleus NA 0 PE1 -NX_Q13106 49865 437 9.11 19 Nucleus NA 0 PE2 -NX_Q13107 108565 963 5.47 3 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q13111 106926 956 5.69 19 Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_Q13112 61493 559 7.18 21 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q13113 12227 114 4.79 1 Cytosol;Nucleus speckle;Membrane NA 1 PE1 -NX_Q13114 64490 568 8.23 14 Cytoplasm;Endosome;Mitochondrion Herpes simplex encephalitis 3 0 PE1 -NX_Q13115 42953 394 7.1 8 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q13117 63111 558 8.84 Y Nucleus;Cytoplasm Spermatogenic failure Y-linked 2 0 PE1 -NX_Q13118 52555 480 9.29 8 Nucleus NA 0 PE1 -NX_Q13123 65602 557 6.26 5 Nucleus;Nucleus speckle;Nucleoplasm;Chromosome;Spindle pole NA 0 PE1 -NX_Q13126 31236 283 6.75 9 Cytosol;Cytoplasm;Nucleus Diaphyseal medullary stenosis with malignant fibrous histiocytoma 0 PE1 -NX_Q13127 121872 1097 6.3 4 Cytosol;Nucleus;Nucleoplasm Wilms tumor 6;Fibromatosis, gingival, 5 0 PE1 -NX_Q13129 217953 1914 6.32 1 Nucleus;Nucleus NA 0 PE1 -NX_Q13131 64009 559 8.32 5 Nucleus speckle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q13133 50396 447 7.61 11 Nucleus NA 0 PE1 -NX_Q13136 135779 1202 5.91 11 Cytosol;Focal adhesion;Cytoplasm NA 0 PE1 -NX_Q13137 52254 446 4.94 17 Nucleus;Perinuclear region;Cytoskeleton;Autophagosome membrane;Cytoplasmic vesicle;Cytosol;Cytoplasm NA 0 PE1 -NX_Q13144 80380 721 4.98 3 Cytosol Leukodystrophy with vanishing white matter 0 PE1 -NX_Q13145 29108 260 7.91 10 Membrane;Cytoplasmic vesicle;Lipid droplet;Nucleolus NA 1 PE1 -NX_Q13148 44740 414 5.85 1 Nucleus;Nucleus;Nucleoplasm Amyotrophic lateral sclerosis 10 0 PE1 -NX_Q13151 30841 305 9.34 5 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13153 60647 545 5.55 11 Cytosol;Cytoplasm;Focal adhesion;Cell membrane;Cell membrane;Ruffle membrane;Invadopodium NA 0 PE1 -NX_Q13155 35349 320 8.45 7 Cytosol;Cytosol;Nucleus NA 0 PE1 -NX_Q13156 28868 261 6.07 X Nucleus NA 0 PE1 -NX_Q13158 23279 208 5.48 11 Cytosol;Nucleoplasm Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations 0 PE1 -NX_Q13162 30540 271 5.86 X Cytoplasm;Endoplasmic reticulum;Cytosol;Endoplasmic reticulum NA 0 PE1 -NX_Q13163 50112 448 5.98 15 Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q13164 88386 816 5.6 17 Cytosol;PML body;Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q13166 9224 79 8 7 NA NA 0 PE2 -NX_Q13177 58043 524 5.69 3 Cytoplasmic vesicle;Nucleus;Cytoplasm;Nucleus;Cytoplasm;Nucleus;Perinuclear region;Membrane NA 0 PE1 -NX_Q13183 64410 592 6.55 17 Membrane NA 12 PE1 -NX_Q13185 20811 183 5.23 7 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_Q13188 56301 491 5.12 8 Cytosol;Cytoplasm;Nucleus;Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q13190 39673 355 9.21 11 Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus membrane;Golgi apparatus;Nucleoplasm NA 1 PE1 -NX_Q13191 109450 982 8.15 3 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q13200 100200 908 5.08 3 NA NA 0 PE1 -NX_Q13201 138110 1228 8.15 4 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_Q13202 65827 625 8.58 11 Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q13203 52050 477 6.3 1 Nucleolus;Mitochondrion;Nucleus NA 0 PE1 -NX_Q13206 100888 875 8.72 11 Nucleolus;Nucleolus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q13207 75066 712 9.13 17 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13214 83122 749 9.17 3 Secreted;Endoplasmic reticulum NA 0 PE1 -NX_Q13216 44055 396 5.91 5 Nucleus speckle;Nucleus UV-sensitive syndrome 2;Cockayne syndrome A 0 PE1 -NX_Q13217 57580 504 5.83 13 Endoplasmic reticulum;Endoplasmic reticulum Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 0 PE1 -NX_Q13219 180973 1627 5.76 9 Cytosol;Secreted;Cell membrane NA 0 PE1 -NX_Q13224 166367 1484 6.47 12 Cell membrane;Postsynaptic cell membrane Epileptic encephalopathy, early infantile, 27;Mental retardation, autosomal dominant 6 3 PE1 -NX_Q13227 36689 327 9.52 17 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q13228 52391 472 5.93 1 Cytosol;Nucleus;Membrane;Nucleolus NA 0 PE1 -NX_Q13231 51681 466 6.55 1 Secreted;Lysosome NA 0 PE1 -NX_Q13232 19015 169 7.71 16 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q13233 164470 1512 7.93 5 Cytosol 46,XY sex reversal 6 0 PE1 -NX_Q13237 87432 762 8.67 4 Apical cell membrane NA 0 PE1 -NX_Q13239 31156 276 7.61 8 Nucleus membrane;Cytoplasm;Endosome NA 0 PE1 -NX_Q13241 20513 179 5.19 12 Membrane NA 1 PE1 -NX_Q13242 25542 221 8.74 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13243 31264 272 11.59 14 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q13247 39587 344 11.42 20 Nucleus;Nucleus speckle;Nucleus speckle NA 0 PE1 -NX_Q13253 25774 232 9.13 17 Secreted Brachydactyly B2;Stapes ankylosis with broad thumb and toes;Symphalangism, proximal 1A;Multiple synostoses syndrome 1;Tarsal-carpal coalition syndrome 0 PE1 -NX_Q13255 132357 1194 6.27 6 Cytoplasmic vesicle;Cell membrane Spinocerebellar ataxia, autosomal recessive, 13 7 PE1 -NX_Q13257 23510 205 5.02 4 Nucleoplasm;Nucleus;Kinetochore;Cytoplasm;Spindle pole NA 0 PE1 -NX_Q13258 40271 359 9.39 14 Cell membrane Asthma-related traits 1 7 PE2 -NX_Q13261 28233 267 8.64 10 Cell membrane;Cytosol;Membrane;Nucleus membrane;Endoplasmic reticulum membrane;Extracellular space;Golgi apparatus membrane;Cytoplasmic vesicle membrane NA 1 PE1 -NX_Q13263 88550 835 5.52 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13268 29927 280 9.21 14 Mitochondrion matrix;Nucleus;Mitochondrion;Nucleus NA 0 PE1 -NX_Q13275 88381 785 8.59 3 Secreted NA 0 PE1 -NX_Q13277 33155 289 5.31 11 Nucleus;Nucleus;Cytosol;Membrane NA 1 PE1 -NX_Q13278 11984 110 8.36 11 NA NA 0 PE5 -NX_Q13283 52164 466 5.36 5 Nucleus;Cell membrane;Cytoplasm;Cytosol;Cytoplasm;Cytosol;Cytoplasmic granule;Cell membrane;Nucleus NA 0 PE1 -NX_Q13285 51636 461 7.81 9 Nucleus 46,XY sex reversal 3;Spermatogenic failure 8;Premature ovarian failure 7;46,XX sex reversal 4;Adrenal insufficiency, NR5A1-related 0 PE1 -NX_Q13286 47623 438 5.93 16 Lysosome;Late endosome;Lysosome membrane Ceroid lipofuscinosis, neuronal, 3 6 PE1 -NX_Q13287 35057 307 5.24 2 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q13291 37231 335 8.7 1 Cell membrane;Secreted;Cell membrane NA 1 PE1 -NX_Q13296 10499 93 4.17 11 NA NA 0 PE1 -NX_Q13303 41000 367 9.11 1 Synaptosome;Cytoplasm;Membrane;Cell membrane;Axon;Cytoskeleton NA 0 PE1 -NX_Q13304 40989 367 9.58 2 Cell membrane;Cytoplasmic vesicle NA 7 PE2 -NX_Q13308 118392 1070 6.67 6 Membrane;Cell junction NA 1 PE1 -NX_Q13309 47761 424 6.67 5 Nucleus;Nucleus;Cytoplasm;Cytosol NA 0 PE1 -NX_Q13310 70783 644 9.31 1 Cytosol;Cytoplasm NA 0 PE1 -NX_Q13315 350687 3056 6.39 11 Nucleoplasm;Cytoplasmic vesicle;Nucleus Ataxia telangiectasia 0 PE1 -NX_Q13316 55782 513 4 4 Extracellular matrix;Cytoplasm;Nucleus Hypophosphatemic rickets, autosomal recessive, 1 0 PE1 -NX_Q13319 38705 367 9.76 2 Cell membrane NA 0 PE1 -NX_Q13322 67231 594 8.06 7 Nucleus membrane;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q13323 18016 160 4.21 22 Endomembrane system;Mitochondrion membrane NA 1 PE1 -NX_Q13324 47688 411 7.87 7 Cell membrane NA 7 PE1 -NX_Q13325 55847 482 7 10 Ruffle membrane;Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q13326 32379 291 5.64 13 Sarcolemma;Cytoskeleton;Nucleoplasm Limb-girdle muscular dystrophy 2C 1 PE1 -NX_Q13330 80786 715 9.34 14 Cytosol;Cytoplasm;Nucleus;Nucleus envelope;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q13332 217041 1948 6.06 19 Cytosol;Cell membrane;Cell membrane;Axon;Perikaryon;Synaptic vesicle membrane;Synaptosome;Postsynaptic density NA 1 PE1 -NX_Q13336 42528 389 6.79 18 Cell membrane;Cytoplasmic vesicle;Basolateral cell membrane NA 8 PE1 -NX_Q13342 98223 867 5.21 2 Mitochondrion;Nucleolus;Nucleus;PML body;Cytoplasm NA 0 PE1 -NX_Q13347 36502 325 5.38 1 Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q13349 126758 1161 5.5 16 Membrane NA 1 PE1 -NX_Q13351 38221 362 6.67 19 Nucleus Anemia, congenital dyserythropoietic, 4 0 PE1 -NX_Q13352 20194 177 9.13 1 Nucleoplasm;Nucleus;Centromere;Kinetochore;Cytoplasm NA 0 PE1 -NX_Q13356 58823 520 8.92 22 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q13360 54782 481 8.53 19 Nucleus NA 0 PE1 -NX_Q13361 19612 173 5.64 12 Extracellular matrix Aortic aneurysm, familial thoracic 9 0 PE1 -NX_Q13362 61061 524 6.41 14 Cytosol;Golgi apparatus;Nucleoplasm;Nucleus;Centromere NA 0 PE1 -NX_Q13363 47535 440 6.28 4 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q13367 119059 1082 5.43 15 Clathrin-coated vesicle membrane;Golgi apparatus;Cytosol;Golgi apparatus;Nucleoplasm Epileptic encephalopathy, early infantile, 48 0 PE1 -NX_Q13368 66152 585 6.34 17 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q13370 124333 1112 5.61 11 Membrane;Endoplasmic reticulum NA 6 PE1 -NX_Q13371 34282 301 4.65 9 Cytoplasm;Cytosol NA 0 PE1 -NX_Q13387 87975 824 4.36 22 Cytoplasm NA 0 PE1 -NX_Q13393 124184 1074 8.91 3 Perinuclear region;Endoplasmic reticulum membrane;Golgi apparatus membrane;Late endosome membrane;Cell membrane Cardiac valvular defect, developmental 0 PE1 -NX_Q13394 40956 359 8.94 13 Nucleus NA 0 PE1 -NX_Q13395 181675 1621 6.66 1 Nucleus speckle NA 0 PE1 -NX_Q13398 64535 564 8.83 19 Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 -NX_Q13401 18716 168 4.52 7 NA NA 0 PE5 -NX_Q13402 254390 2215 8.79 11 Cytosol;Cytoskeleton;Cell cortex;Cytoplasm Deafness, autosomal recessive, 2;Usher syndrome 1B;Deafness, autosomal dominant, 11 0 PE1 -NX_Q13404 16495 147 7.71 20 Nucleus NA 0 PE1 -NX_Q13405 19198 166 9.47 11 Mitochondrion NA 0 PE1 -NX_Q13409 71457 638 5.08 2 Nucleus;Endoplasmic reticulum;Cytoskeleton;Nucleolus;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q13410 58960 526 5.38 6 Membrane;Secreted NA 1 PE1 -NX_Q13415 97350 861 9.34 1 Cell membrane;Cytosol;Nucleus;Nucleus Meier-Gorlin syndrome 1 0 PE1 -NX_Q13416 65972 577 6.07 2 Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q13418 51419 452 8.3 11 Focal adhesion;Cell membrane;Lamellipodium;Focal adhesion;Cell junction;Sarcomere NA 0 PE1 -NX_Q13421 68986 630 6.03 16 Nucleoplasm;Cytoplasmic vesicle;Secreted;Secreted;Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q13422 57528 519 6.12 7 Nucleoplasm;Cytoplasm;Nucleus;Nucleolus;Cytoplasmic vesicle Immunodeficiency, common variable, 13 0 PE1 -NX_Q13423 113896 1086 8.31 5 Mitochondrion;Mitochondrion inner membrane;Mitochondrion Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 14 PE1 -NX_Q13424 53895 505 6.35 20 Cytoskeleton;Cell junction;Sarcolemma Long QT syndrome 12 0 PE1 -NX_Q13425 57950 540 9.03 16 Cytoskeleton;Secretory vesicle membrane;Cell junction;Membrane NA 0 PE1 -NX_Q13426 38287 336 4.91 5 Nucleus;Nucleus Short stature, microcephaly, and endocrine dysfunction 0 PE1 -NX_Q13427 88617 754 10.29 2 Nucleus;Cytosol;Nucleus speckle;Nucleus matrix;Nucleus speckle NA 0 PE1 -NX_Q13428 152106 1488 9.06 5 Nucleus;Nucleolus;Nucleolus Treacher Collins syndrome 1 0 PE1 -NX_Q13432 26962 240 6 17 Spindle;Spindle pole;Centrosome Immunodeficiency 13 0 PE1 -NX_Q13433 85047 755 6.45 18 Cell membrane NA 6 PE1 -NX_Q13434 52910 485 5.08 X NA NA 0 PE5 -NX_Q13435 100228 895 5.52 11 Nucleus speckle;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q13438 75562 667 4.8 12 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q13439 261140 2230 5.33 3 Golgi apparatus;Cytosol;Golgi apparatus;Golgi apparatus membrane;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q13442 20630 181 8.84 7 Cytosol;Cell membrane NA 0 PE1 -NX_Q13443 90556 819 7.71 8 Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane;Secreted Cone-rod dystrophy 9 1 PE1 -NX_Q13444 92959 863 6.3 1 Endomembrane system;Adherens junction;Cytoplasmic vesicle;Flagellum;Acrosome NA 1 PE1 -NX_Q13445 25206 227 4.39 19 Cytoplasmic vesicle;Cell membrane;Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE1 -NX_Q13449 37393 338 6.55 3 Cytosol;Cell membrane NA 0 PE1 -NX_Q13451 51212 457 5.71 6 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q13454 39676 348 9.93 8 Endoplasmic reticulum membrane Mental retardation, autosomal recessive 7 4 PE1 -NX_Q13459 243401 2157 8.91 19 Cytosol;Perinuclear region;Cell cortex;Cytoskeleton Celiac disease 4 0 PE1 -NX_Q13461 33234 319 9.72 1 Nucleus Cataract 34, multiple types;Aortic aneurysm, familial thoracic 11;Anterior segment dysgenesis 2 0 PE1 -NX_Q13464 158175 1354 5.66 18 Cytoskeleton;Cytoplasm;Centriole;Golgi apparatus membrane;Bleb;Cell membrane;Lamellipodium;Ruffle NA 0 PE1 -NX_Q13465 18696 169 5.75 3 NA NA 0 PE1 -NX_Q13467 64507 585 8.69 2 Cell membrane;Golgi apparatus membrane NA 7 PE1 -NX_Q13469 100146 925 6.87 20 Cytoplasm;Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q13470 72468 666 9.57 17 Cytoplasm;Cell junction;Membrane NA 0 PE1 -NX_Q13472 112372 1001 8.69 17 NA NA 0 PE1 -NX_Q13474 107962 957 5.82 X Postsynaptic density;Dendrite;Perikaryon;Cell membrane NA 0 PE1 -NX_Q13477 40155 382 5 19 Membrane NA 1 PE1 -NX_Q13478 62304 541 8.06 2 Membrane;Mitochondrion NA 1 PE1 -NX_Q13480 76616 694 5.63 4 Cytoplasmic vesicle NA 0 PE1 -NX_Q13485 60439 552 6.5 18 Nucleoplasm;Cytosol;Centrosome;Nucleus;Cytoplasm Juvenile polyposis syndrome;Pancreatic cancer;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Myhre syndrome;Colorectal cancer 0 PE1 -NX_Q13487 35556 334 5.79 19 Nucleus;Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13488 92968 830 6.66 11 Mitochondrion;Membrane Osteopetrosis, autosomal recessive 1 8 PE1 -NX_Q13489 68372 604 5.71 11 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q13490 69900 618 6.27 11 Cytoplasm;Cytosol;Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q13491 28989 265 5.53 X Cell membrane NA 4 PE1 -NX_Q13492 70755 652 7.7 11 Cytoplasmic vesicle;Nucleus;Clathrin-coated vesicle;Golgi apparatus;Clathrin-coated pit NA 0 PE1 -NX_Q13495 83231 774 8.54 X Nucleoplasm;Nucleus Hypospadias 2, X-linked 0 PE1 -NX_Q13496 69932 603 8.38 X Cytoplasm;Cell membrane;Filopodium;Ruffle;Late endosome;Cell membrane Myopathy, centronuclear, X-linked 0 PE1 -NX_Q13501 47687 440 5.1 5 Cytosol;P-body;Lysosome;PML body;Late endosome;Autophagosome;Nucleus;Endoplasmic reticulum;Cytosol;Cytoplasmic vesicle Myopathy, distal, with rimmed vacuoles;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;Paget disease of bone 3;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 0 PE1 -NX_Q13503 15564 144 4.29 12 Cytosol;Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q13505 51477 466 9.8 1 Membrane;Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_Q13506 54401 487 6.24 2 Golgi apparatus;Nucleoplasm;Cell membrane;Nucleus NA 0 PE1 -NX_Q13507 96009 836 6.25 4 Membrane Spinocerebellar ataxia 41 6 PE1 -NX_Q13508 43923 389 5.71 4 Cell membrane NA 0 PE1 -NX_Q13509 50433 450 4.83 16 Cytoskeleton Fibrosis of extraocular muscles, congenital, 3A;Cortical dysplasia, complex, with other brain malformations 1 0 PE1 -NX_Q13510 44660 395 7.52 8 Lysosome Spinal muscular atrophy with progressive myoclonic epilepsy;Farber lipogranulomatosis 0 PE1 -NX_Q13515 45880 415 5.41 3 Cell membrane;Cytoskeleton;Cell cortex;Cell membrane;Cytosol Cataract 12, multiple types 0 PE1 -NX_Q13516 32385 323 9.28 21 Cell membrane;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q13519 20295 176 8.73 8 Secreted NA 0 PE1 -NX_Q13520 29370 282 8.88 12 Cytoplasmic vesicle membrane NA 6 PE2 -NX_Q13522 19011 171 5.9 12 NA NA 0 PE1 -NX_Q13523 116987 1007 10.26 6 Nucleus;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q13526 18243 163 8.95 19 Nucleoplasm;Cytosol;Cytoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q13530 52580 473 7.43 20 Cell membrane;Golgi apparatus membrane;Perinuclear region NA 8 PE1 -NX_Q13535 301367 2644 7.17 3 Chromosome;PML body;Nucleus;Golgi apparatus;Nucleoplasm Seckel syndrome 1;Cutaneous telangiectasia and cancer syndrome, familial 0 PE1 -NX_Q13536 17231 156 6.39 1 Nucleus NA 0 PE2 -NX_Q13541 12580 118 5.32 8 Cell membrane;Cytoplasm;Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13542 12939 120 6.16 10 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q13546 75931 671 5.92 6 Cytoplasm;Cytosol;Cell membrane;Cell membrane NA 0 PE1 -NX_Q13547 55103 482 5.31 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13554 72678 666 6.87 7 Cytoskeleton;Centrosome;Sarcoplasmic reticulum membrane NA 0 PE1 -NX_Q13555 62609 558 7.9 10 Sarcoplasmic reticulum membrane NA 0 PE1 -NX_Q13557 56369 499 6.81 4 Sarcoplasmic reticulum membrane;Sarcolemma NA 0 PE1 -NX_Q13561 44231 401 5.1 12 Endosome;Centrosome;Centrosome;Membrane NA 0 PE1 -NX_Q13562 39920 356 5.2 2 Cytoplasm;Nucleus Maturity-onset diabetes of the young 6;Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_Q13563 109691 968 5.49 4 Endoplasmic reticulum;Cytoplasmic vesicle membrane;Endoplasmic reticulum membrane;Cilium membrane;Basolateral cell membrane;Cell membrane Polycystic kidney disease 2 6 PE1 -NX_Q13564 60246 534 5.25 16 Cytoplasm;Nucleus;Cytoskeleton;Centrosome;Cell membrane NA 0 PE1 -NX_Q13568 56044 498 5.54 7 Cytoplasm;Nucleus Rheumatoid arthritis;Systemic lupus erythematosus 10;Inflammatory bowel disease 14 0 PE1 -NX_Q13569 46053 410 6.36 12 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q13571 29937 262 8.95 1 Cytosol;Lysosome membrane NA 5 PE1 -NX_Q13572 45621 414 5.78 14 Mitochondrion NA 0 PE1 -NX_Q13573 61494 536 9.52 14 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q13574 124128 1117 9.24 11 Nucleus speckle;Cell membrane;Nucleus;Cytoplasm NA 0 PE1 -NX_Q13576 180578 1575 5.47 5 Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q13585 67369 617 7.64 X Cell membrane;Nucleoplasm;Cell membrane NA 7 PE1 -NX_Q13586 77423 685 6.19 11 Sarcoplasmic reticulum;Cytoskeleton;Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum Myopathy, tubular aggregate, 1;Stormorken syndrome;Immunodeficiency 10 1 PE1 -NX_Q13588 25337 217 6.54 17 NA NA 0 PE1 -NX_Q13591 120615 1074 7.03 5 Membrane NA 1 PE1 -NX_Q13595 32689 282 11.27 7 Cytoplasmic vesicle;Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q13596 59070 522 5.08 15 Endosome;Lamellipodium;Lysosome;Endosome membrane;trans-Golgi network membrane;Early endosome membrane NA 0 PE1 -NX_Q13601 43665 381 9.78 12 Nucleolus;Nucleus;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q13606 36049 314 8.25 11 Cell membrane NA 7 PE2 -NX_Q13607 35350 317 8.65 7 Cell membrane NA 7 PE2 -NX_Q13608 104061 980 5.96 6 Nucleoplasm;Cytoplasmic vesicle;Cytoplasm;Peroxisome membrane;Photoreceptor outer segment Peroxisome biogenesis disorder 4A;Peroxisome biogenesis disorder complementation group 4;Peroxisome biogenesis disorder 4B;Heimler syndrome 2 0 PE1 -NX_Q13609 35504 305 9.35 3 Endoplasmic reticulum;Golgi apparatus;Endoplasmic reticulum;Nucleus;Secreted Systemic lupus erythematosus 16 0 PE1 -NX_Q13610 55828 501 4.6 12 Nucleolus;Golgi apparatus;Nucleus NA 0 PE1 -NX_Q13613 74678 665 6.69 X Cytoplasmic vesicle;Cell membrane;Nucleoplasm;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q13614 73381 643 7.02 11 Cytoplasmic vesicle;Cytoplasm;Early endosome membrane Charcot-Marie-Tooth disease 4B1 0 PE1 -NX_Q13615 133619 1198 5.51 22 Cytosol;Membrane;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q13616 89679 776 8.19 7 Nucleus;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q13617 86983 745 6.46 10 Nucleoplasm NA 0 PE1 -NX_Q13618 88930 768 8.68 2 Nucleus;Cytoplasm;Nucleus;Golgi apparatus Pseudohypoaldosteronism 2E 0 PE1 -NX_Q13619 87680 759 8.29 13 NA NA 0 PE1 -NX_Q13620 103982 913 7.01 X Nucleus Mental retardation, X-linked, syndromic, 15 0 PE1 -NX_Q13621 121450 1099 7.18 15 Membrane Bartter syndrome 1, antenatal 12 PE1 -NX_Q13625 125616 1128 5.78 1 Perinuclear region;Cell junction;Cytosol;Nucleus NA 0 PE1 -NX_Q13627 85584 763 8.9 21 Nucleolus;Cytosol;Nucleus;Nucleus speckle Mental retardation, autosomal dominant 7 0 PE1 -NX_Q13630 35893 321 6.12 8 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q13634 88073 790 4.98 5 Cell membrane NA 1 PE1 -NX_Q13635 160545 1447 6.42 9 Golgi apparatus;Membrane Basal cell nevus syndrome;Holoprosencephaly 7;Basal cell carcinoma 12 PE1 -NX_Q13636 21569 194 6.59 18 trans-Golgi network membrane;Early endosome;Phagosome;Phagosome membrane;Cytoplasm;trans-Golgi network NA 0 PE1 -NX_Q13637 24997 225 6.08 6 Phagosome;Cytosol;Phagosome membrane;Melanosome membrane;Mitochondrion;Melanosome;Mitochondrion outer membrane NA 0 PE1 -NX_Q13639 43761 388 8.06 5 Cell membrane;Endosome NA 7 PE1 -NX_Q13641 46032 420 6.35 6 Cell membrane;Nucleoplasm NA 1 PE1 -NX_Q13642 36263 323 9.25 X Cytoplasm;Cytosol;Cell membrane;Cytosol;Nucleus Scapuloperoneal myopathy, X-linked dominant;Reducing body myopathy, X-linked 1B, with late childhood or adult onset;Emery-Dreifuss muscular dystrophy 6, X-linked;Myopathy, X-linked, with postural muscle atrophy;Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset 0 PE1 -NX_Q13643 31192 280 5.79 1 Cytoplasm;Nucleus NA 0 PE1 -NX_Q13651 63003 578 5.23 11 Membrane Inflammatory bowel disease 28 1 PE1 -NX_Q13670 28555 270 6.23 7 NA NA 0 PE5 -NX_Q13671 84099 783 8.3 11 Cytoplasm;Nucleus;Nucleus membrane;Membrane;Cytoskeleton NA 0 PE1 -NX_Q13683 128948 1181 5.47 12 Membrane;Cell membrane;Cytosol Muscular dystrophy congenital due to integrin alpha-7 deficiency 1 PE1 -NX_Q13685 46751 434 4.29 2 Cytoplasm;Cell membrane;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q13686 43832 389 6.61 14 Mitochondrion;Nucleus NA 0 PE1 -NX_Q13698 212350 1873 6.17 1 Sarcolemma Malignant hyperthermia 5;Periodic paralysis hypokalemic 1;Thyrotoxic periodic paralysis 1 24 PE1 -NX_Q13702 46328 412 8.48 11 Cytoskeleton;Cytosol;Cell membrane;Centrosome;Cell membrane;Postsynaptic cell membrane Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Fetal akinesia deformation sequence 0 PE1 -NX_Q13705 57724 512 5.46 3 Nucleus;Nucleus;Cytosol;Cell membrane Heterotaxy, visceral, 4, autosomal 1 PE1 -NX_Q13724 91918 837 8.97 2 Endoplasmic reticulum;Endoplasmic reticulum membrane Type IIb congenital disorder of glycosylation 1 PE1 -NX_Q13733 114166 1029 6.23 1 Cell membrane NA 10 PE1 -NX_Q13740 65102 583 5.92 3 Cell membrane;Axon;Dendrite;Secreted NA 1 PE1 -NX_Q13748 49960 450 4.98 13 Cytoskeleton NA 0 PE1 -NX_Q13751 129572 1172 7.14 1 Nucleolus;Mitochondrion;Basement membrane Generalized atrophic benign epidermolysis bullosa;Epidermolysis bullosa, junctional, Herlitz type;Amelogenesis imperfecta 1A 0 PE1 -NX_Q13753 130976 1193 5.83 1 Cytosol;Basement membrane Epidermolysis bullosa, junctional, Herlitz type 0 PE1 -NX_Q13761 44356 415 9.53 1 Nucleus;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q13765 23384 215 4.52 12 Cytoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q13769 78508 683 6.41 22 Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q13772 69726 614 5.72 10 Nucleolus;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q13790 35399 326 5.42 12 Secreted NA 0 PE1 -NX_Q13794 6030 54 10.3 18 Mitochondrion;Cytoplasmic vesicle NA 0 PE1 -NX_Q13795 22614 201 7.5 20 Golgi apparatus;trans-Golgi network;Golgi apparatus NA 0 PE1 -NX_Q13796 176410 1616 6.64 X Cytosol;Cell membrane;Cell junction;Apical cell membrane;Tight junction;Cytoskeleton NA 0 PE1 -NX_Q13797 114489 1035 5.76 3 Cytoplasmic vesicle;Membrane;Nucleus NA 1 PE1 -NX_Q13813 284539 2472 5.22 9 Cytoskeleton;Cytoplasmic vesicle;Cytoskeleton;Cell cortex Epileptic encephalopathy, early infantile, 5 0 PE1 -NX_Q13822 98994 863 7.14 8 Golgi apparatus;Nucleus;Cytoskeleton;Secreted NA 0 PE1 -NX_Q13823 83655 731 9.27 1 Nucleolus;Nucleolus NA 0 PE1 -NX_Q13825 35609 339 9.53 9 Mitochondrion 3-methylglutaconic aciduria 1 0 PE1 -NX_Q13829 36204 316 8.26 17 Nucleus;Cytoplasm;Nucleolus;Endosome NA 0 PE1 -NX_Q13835 82861 747 9.29 1 Nucleoplasm;Desmosome;Nucleus Ectodermal dysplasia-skin fragility syndrome 0 PE1 -NX_Q13838 48991 428 5.44 6 Cytoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q13867 52562 455 5.87 17 Nucleus;Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q13868 32789 293 7.06 9 Cytoplasm;Nucleolus;Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q13873 115201 1038 5.82 2 Cell membrane;Cell membrane;Nucleoplasm Pulmonary venoocclusive disease 1, autosomal dominant;Pulmonary hypertension, primary, 1 1 PE1 -NX_Q13875 20959 183 11.35 3 Perinuclear region NA 0 PE1 -NX_Q13882 51834 451 6.56 20 Cytosol;Cell membrane;Membrane;Ruffle;Nucleus;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q13884 58061 538 8.81 8 Sarcolemma;Cell junction;Cytoskeleton NA 0 PE1 -NX_Q13885 49907 445 4.78 6 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 5 0 PE1 -NX_Q13886 27235 244 8.8 9 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q13887 50792 457 8.86 13 Golgi apparatus;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q13888 44419 395 6.28 5 Nucleus NA 0 PE1 -NX_Q13889 34378 308 6.59 12 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13895 49601 437 8.19 6 Nucleolus;Cytoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_Q13901 16019 141 9 2 Nucleus;Nucleolus;Nucleolus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q13905 120548 1077 5.64 9 Early endosome;Cytoplasmic vesicle NA 0 PE1 -NX_Q13907 26319 227 5.93 10 Peroxisome NA 0 PE1 -NX_Q13936 248977 2221 6.33 12 Membrane;Cell membrane Timothy syndrome;Brugada syndrome 3 24 PE1 -NX_Q13938 20967 189 4.74 19 Cytoplasm;Cytosol;Cell membrane;Nucleus NA 0 PE1 -NX_Q13939 66582 588 8.49 9 Calyx NA 0 PE1 -NX_Q13946 55505 482 7.1 8 Cytosol;Cytoplasm NA 0 PE1 -NX_Q13948 77455 678 5.35 7 Golgi apparatus membrane NA 1 PE1 -NX_Q13950 56648 521 9.03 6 Nucleoplasm;Nucleus Cleidocranial dysplasia;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 0 PE1 -NX_Q13951 21508 182 6.23 16 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q13952 50302 458 5.78 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q13956 9074 83 9.3 12 NA Cone dystrophy, retinal 3A 0 PE1 -NX_Q13972 145234 1273 7.18 15 Golgi apparatus NA 0 PE1 -NX_Q13976 76364 671 5.74 10 Cytosol;Cytoplasmic vesicle;Cytoplasm Aortic aneurysm, familial thoracic 8 0 PE1 -NX_Q14002 29379 265 5.36 19 Cell membrane NA 0 PE1 -NX_Q14003 80578 757 6.08 19 Cell membrane;Presynaptic cell membrane;Perikaryon;Axon;Dendrite;Dendritic spine membrane;Cell cortex;Cytoskeleton Spinocerebellar ataxia 13 6 PE1 -NX_Q14004 164923 1512 9.71 7 Nucleus speckle;Nucleus speckle Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 PE1 -NX_Q14005 141752 1332 8.34 15 Nucleus;Cytoplasm;Secreted;Nucleus speckle;Cell membrane;Cytosol NA 0 PE1 -NX_Q14008 225495 2032 7.95 11 Nucleolus;Cytosol;Centrosome;Spindle pole;Cell membrane;Kinetochore;Spindle NA 0 PE1 -NX_Q14011 18648 172 9.51 19 Nucleus;Nucleus;Nucleolus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q14012 41337 370 5.12 3 Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q14019 15945 142 5.54 16 Cytoplasm;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q14028 139678 1251 4.76 16 Cytoplasmic vesicle;Cytosol;Membrane Retinitis pigmentosa 45 6 PE1 -NX_Q14031 163807 1691 9.31 X Endoplasmic reticulum;Basement membrane Deafness, X-linked, 6 0 PE1 -NX_Q14032 46299 418 6.5 9 Cytoplasm;Cytoplasmic vesicle Familial hypercholanemia 0 PE1 -NX_Q14050 63616 684 7.58 20 Extracellular matrix;Nucleoplasm;Cytoskeleton Multiple epiphyseal dysplasia 3;Intervertebral disc disease 0 PE1 -NX_Q14055 65131 689 9.23 1 Nucleus;Cytoplasmic vesicle;Extracellular matrix Intervertebral disc disease;Stickler syndrome 5;Multiple epiphyseal dysplasia 2 0 PE1 -NX_Q14061 6915 63 6.8 3 Cytoplasm;Mitochondrion intermembrane space;Mitochondrion NA 0 PE1 -NX_Q14088 26593 237 8.07 X Cytoplasm;Cell membrane;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q14093 39079 348 9.74 9 Calyx NA 0 PE1 -NX_Q14094 42557 377 8.23 4 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q14103 38434 355 7.61 4 Nucleus;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q14106 36632 344 6.45 22 Cytoplasm;Cytosol NA 0 PE1 -NX_Q14108 54290 478 5 4 Cytosol;Lysosome membrane Epilepsy, progressive myoclonic 4, with or without renal failure 2 PE1 -NX_Q14112 151254 1375 5.09 14 Basement membrane;Cell membrane NA 0 PE1 -NX_Q14114 105634 963 4.88 1 Cell membrane;Secreted Myocardial infarction 1 1 PE1 -NX_Q14116 22326 193 4.54 11 Nucleus;Cytosol;Golgi apparatus;Secreted NA 0 PE1 -NX_Q14117 56630 519 6.81 8 NA Dihydropyrimidinase deficiency 0 PE1 -NX_Q14118 97441 895 8.71 3 Extracellular space;Cell membrane;Postsynaptic cell membrane;Sarcolemma;Cytoplasmic vesicle;Cytoskeleton;Nucleoplasm Muscular dystrophy-dystroglycanopathy limb-girdle C9;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9 1 PE1 -NX_Q14119 56931 521 9.62 17 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14123 80760 709 8.88 7 Nucleus NA 0 PE1 -NX_Q14126 122294 1118 5.13 18 Cell membrane;Cell junction;Desmosome Arrhythmogenic right ventricular dysplasia, familial, 10;Cardiomyopathy, dilated 1BB 1 PE1 -NX_Q14129 24989 220 7.02 22 Nucleus NA 0 PE1 -NX_Q14134 65835 588 6.73 11 Nucleoplasm;Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q14135 30948 290 8.49 3 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q14137 83630 746 5.8 8 Nucleolus;Nucleus;Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q14139 122561 1066 5.11 11 Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q14140 33897 314 4.42 2 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q14141 49717 434 6.24 X Midbody;Cytoplasm;Spindle;Kinetochore;Cleavage furrow;Flagellum NA 0 PE1 -NX_Q14142 49773 442 8.13 9 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q14145 69666 624 6 19 Cytoplasm;Cytosol;Nucleoplasm;Microtubule organizing center;Nucleus NA 0 PE1 -NX_Q14146 170544 1524 6.97 1 Nucleolus;Nucleolus NA 0 PE1 -NX_Q14147 128120 1143 7.37 19 Nucleus;Cytoskeleton NA 0 PE1 -NX_Q14149 107113 939 5.42 21 Nucleoplasm;Nucleus matrix;PML body;Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q14151 107473 953 5.84 19 Nucleus;Cytoplasmic vesicle;Nucleus;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q14152 166569 1382 6.38 10 Cytoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q14153 45768 422 6.33 10 Cytosol;Nucleus NA 0 PE1 -NX_Q14154 55920 515 9.37 5 Golgi apparatus;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q14155 90012 803 6.66 13 Lamellipodium;Focal adhesion;Ruffle;Cell cortex NA 0 PE1 -NX_Q14156 92924 821 6.24 8 Cell membrane;Cytosol;Cell membrane;Cytosol NA 0 PE1 -NX_Q14157 114535 1087 6.61 1 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q14159 100316 915 6.22 8 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q14160 174885 1630 5.01 8 Cell junction;Cytoplasm;Cell membrane;Adherens junction;Lamellipodium;Cell membrane;Nucleoplasm;Cytoplasm Neural tube defects 0 PE1 -NX_Q14161 84543 759 6.78 12 Cytoskeleton NA 0 PE1 -NX_Q14162 87387 830 5.98 17 Membrane NA 1 PE1 -NX_Q14164 80462 716 7.91 1 Cytoplasm;Cytosol;Nucleus;PML body NA 0 PE1 -NX_Q14165 32234 292 5.27 12 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q14166 74404 644 5.33 22 Cell membrane;Cytosol NA 0 PE1 -NX_Q14168 64581 576 6.32 17 Mitochondrion;Cytosol;Cytoskeleton;Membrane;Dendrite;Dendritic spine membrane NA 0 PE1 -NX_Q14181 65948 598 5.13 11 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q14183 43959 400 6.83 16 Cell junction;Lysosome;Synaptic vesicle membrane;Synaptosome;Nucleolus;Nucleus NA 0 PE1 -NX_Q14184 45949 412 8.25 17 Cytoplasm;Cytoplasmic granule;Cell membrane NA 0 PE1 -NX_Q14185 215346 1865 7.29 10 Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_Q14186 45070 410 5.74 13 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q14188 49236 446 6.17 3 Nucleus;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q14190 73219 667 9.03 21 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14191 162461 1432 5.96 8 Nucleolus;Nucleus;Nucleus speckle;Nucleoplasm Werner syndrome;Colorectal cancer 0 PE1 -NX_Q14192 32193 279 7.8 2 Cytoskeleton;Focal adhesion;Nucleus;Cytoplasm NA 0 PE1 -NX_Q14194 62184 572 6.55 4 Cytosol;Cytoplasm;Centrosome;Spindle NA 0 PE1 -NX_Q14195 61963 570 6.04 5 Cytoplasm;Growth cone;Cytosol NA 0 PE1 -NX_Q14197 23630 206 10.09 17 Mitochondrion;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q14201 29116 252 9.12 21 NA NA 0 PE1 -NX_Q14202 152379 1370 6.01 X Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14203 141695 1278 5.61 2 Cytoskeleton;Cytoskeleton;Cytoplasm;Nucleus envelope;Spindle;Centriole;Centrosome;Centrosome;Cytosol;Cell cortex Neuronopathy, distal hereditary motor, 7B;Amyotrophic lateral sclerosis;Perry syndrome 0 PE1 -NX_Q14204 532408 4646 6.01 14 Cytoplasm;Cytosol;Cytoskeleton;Centrosome Charcot-Marie-Tooth disease 2O;Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant;Mental retardation, autosomal dominant 13 0 PE1 -NX_Q14206 21997 197 5.84 6 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q14207 154290 1427 5.63 11 Nucleus;Nucleus;Nucleus;Nucleoplasm;Cajal body NA 0 PE1 -NX_Q14209 47506 437 4.75 1 Nucleus NA 0 PE1 -NX_Q14210 13286 128 8.59 8 Cell membrane NA 0 PE1 -NX_Q14213 25396 229 9.41 19 Secreted NA 0 PE1 -NX_Q14232 33712 305 6.91 12 Cytosol Leukodystrophy with vanishing white matter 0 PE1 -NX_Q14236 17843 149 10.16 X NA NA 0 PE2 -NX_Q14240 46402 407 5.33 3 NA NA 0 PE1 -NX_Q14241 89909 798 9.59 1 Nucleus;Cytosol;Nucleus speckle NA 0 PE1 -NX_Q14242 43201 412 4.35 12 Membrane NA 1 PE1 -NX_Q14244 84052 749 9.62 6 Cytosol;Perinuclear region;Basolateral cell membrane;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q14246 97683 886 6.42 19 Cell membrane NA 7 PE1 -NX_Q14247 61586 550 5.24 11 Golgi apparatus;Cell junction;Focal adhesion;Clathrin-coated pit;Dendritic spine;Cell cortex;Cytoskeleton;Lamellipodium;Ruffle;Dendrite;Cell projection;Cell membrane;Cell membrane;Cytosol;Cytoplasmic vesicle;Podosome NA 0 PE1 -NX_Q14249 32620 297 9.53 9 Mitochondrion NA 0 PE1 -NX_Q14254 47064 428 5.19 17 Membrane;Cell membrane;Caveola;Endosome NA 0 PE1 -NX_Q14257 36876 317 4.26 15 Endoplasmic reticulum;Endoplasmic reticulum lumen NA 0 PE1 -NX_Q14258 70973 630 8.44 17 Cytoplasm;Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q14264 67942 604 6.84 7 Cytoplasmic vesicle;Virion NA 0 PE1 -NX_Q14289 115875 1009 5.91 8 Cytoplasm;Cell membrane;Nucleus;Cell cortex;Lamellipodium;Perinuclear region;Cell membrane;Focal adhesion;Cytosol NA 0 PE1 -NX_Q14296 61104 549 9.96 7 Nucleus speckle;Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q14314 50229 439 7.09 7 Secreted NA 0 PE1 -NX_Q14315 291022 2725 5.65 7 Cytosol;Cytoplasm;Membrane;Cytoskeleton;Z line;Cell membrane Myopathy, myofibrillar, 5;Myopathy, distal, 4;Cardiomyopathy, familial restrictive 5;Cardiomyopathy, familial hypertrophic 26 0 PE1 -NX_Q14318 44562 412 4.78 19 Endoplasmic reticulum;Cytosol;Mitochondrion;Mitochondrion;Mitochondrion membrane NA 1 PE1 -NX_Q14320 40242 339 6.39 X Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14324 128072 1141 7.44 19 NA NA 0 PE1 -NX_Q14330 38134 331 9.38 13 Cell membrane;Cytoplasmic vesicle membrane NA 7 PE1 -NX_Q14331 29172 258 9.1 4 Cajal body;Nucleolus;Cytoplasm;Z line Facioscapulohumeral muscular dystrophy 1 0 PE1 -NX_Q14332 63554 565 8.47 17 Membrane;Cell junction;Nucleus;Cell membrane NA 7 PE1 -NX_Q14344 44050 377 8.12 17 Cytosol;Melanosome;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q14353 26318 236 5.74 19 NA Cerebral creatine deficiency syndrome 2 0 PE1 -NX_Q14376 38282 348 6.26 1 Cytosol;Nucleus Epimerase-deficiency galactosemia 0 PE1 -NX_Q14390 23661 218 5.11 22 NA NA 0 PE2 -NX_Q14392 71979 662 5.73 11 Membrane NA 1 PE1 -NX_Q14393 79677 721 5.84 13 Cytosol;Microtubule organizing center;Secreted NA 0 PE1 -NX_Q14397 68685 625 6.24 2 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q14406 25391 222 5.56 17 Secreted NA 0 PE2 -NX_Q14409 60598 553 6 4 Mitochondrion outer membrane;Cytoplasm NA 0 PE1 -NX_Q14410 60594 553 5.57 4 Mitochondrion outer membrane;Cytoplasm NA 0 PE1 -NX_Q14416 95568 872 8.5 3 Cell membrane;Dendrite;Synapse NA 7 PE1 -NX_Q14432 124979 1141 5.66 12 Cytosol;Membrane Hypertension and brachydactyly syndrome 6 PE1 -NX_Q14435 72610 633 8.2 2 Golgi apparatus;Golgi stack membrane Tumoral calcinosis, hyperphosphatemic, familial 1 PE1 -NX_Q14439 56998 515 8.81 15 Cell membrane NA 7 PE1 -NX_Q14442 21081 188 6.29 14 Cytoplasm NA 0 PE1 -NX_Q14444 78366 709 5.14 11 Cytoplasm;Cytosol;Dendrite;Cytosol NA 0 PE1 -NX_Q14449 60988 540 8.56 2 Cytosol;Endosome membrane;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q14451 59681 532 8.82 17 Cytoplasm;Cell membrane;Focal adhesion;Cell projection;Cytoplasmic granule;Cell membrane NA 0 PE1 -NX_Q14457 51896 450 4.83 17 trans-Golgi network membrane;Cytoplasm;Centrosome;Endosome membrane;Endoplasmic reticulum membrane;Mitochondrion membrane;Mitochondrion;Nucleus;Cytoplasm;Autophagosome;Endosome;Mitochondrion NA 0 PE1 -NX_Q14469 29541 280 9.66 3 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14493 31286 270 7.06 4 Nucleolus;Cytoplasm;Nucleus;Cytoplasm;Nucleus;Nucleolus;Cytosol;Nucleus NA 0 PE1 -NX_Q14494 84704 772 4.52 17 Cytosol;Nucleus;Endoplasmic reticulum membrane;Nucleus NA 1 PE1 -NX_Q14498 59380 530 10.1 20 Nucleus;Nucleus speckle;Nucleus speckle;Microtubule organizing center;Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q14500 49001 433 5.63 17 Membrane;Cell membrane NA 2 PE1 -NX_Q14507 17646 147 8.64 14 Secreted NA 0 PE1 -NX_Q14508 12993 124 4.69 20 Cytosol;Secreted NA 0 PE1 -NX_Q14511 92861 834 6.23 6 Cell cortex;Nucleoplasm;Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Lamellipodium;Focal adhesion;Spindle;Cell membrane NA 0 PE1 -NX_Q14512 26264 234 9.28 4 Extracellular space;Cell membrane NA 0 PE1 -NX_Q14515 75208 664 4.71 4 Extracellular matrix;Endoplasmic reticulum NA 0 PE1 -NX_Q14517 506273 4588 4.85 4 Perinuclear region;Nucleus;Cell membrane NA 1 PE1 -NX_Q14520 62672 560 6.09 10 Secreted Thyroid cancer, non-medullary, 5 0 PE1 -NX_Q14524 226940 2016 5.34 3 Cell membrane Atrial fibrillation, familial, 10;Progressive familial heart block 1A;Sudden infant death syndrome;Atrial standstill 1;Long QT syndrome 3;Cardiomyopathy, dilated 1E;Sick sinus syndrome 1;Brugada syndrome 1;Familial paroxysmal ventricular fibrillation 1 24 PE1 -NX_Q14525 46214 404 4.81 17 NA NA 0 PE1 -NX_Q14526 76508 733 6.38 17 Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q14527 113929 1009 8.82 3 Cytoplasm;Nucleoplasm;Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q14532 50343 448 4.78 17 NA NA 0 PE1 -NX_Q14533 54928 505 5.4 12 NA Monilethrix 0 PE1 -NX_Q14534 63923 574 8.8 8 Microsome membrane;Endoplasmic reticulum membrane;Cytosol;Cytoplasmic vesicle NA 4 PE1 -NX_Q14541 45877 408 8.68 8 Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q14542 50113 456 5.76 11 Basolateral cell membrane;Nucleoplasm;Nucleus membrane NA 11 PE1 -NX_Q14549 37629 363 7.04 7 Nucleus NA 0 PE1 -NX_Q14554 59594 519 8.08 3 Cell membrane;Nucleoplasm;Golgi apparatus;Endoplasmic reticulum lumen;Nucleolus NA 0 PE1 -NX_Q14558 39394 356 6.73 17 Cytosol NA 0 PE1 -NX_Q14562 139315 1220 8.54 17 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14563 88889 771 7.05 7 Secreted;Nucleoplasm;Cytoplasmic vesicle Hypogonadotropic hypogonadism 16 with or without anosmia 0 PE1 -NX_Q14565 37681 340 5.62 22 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 -NX_Q14566 92889 821 5.29 2 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q14568 39365 343 4.57 11 Cytoplasm NA 0 PE1 -NX_Q14571 308064 2701 6.01 12 Endoplasmic reticulum;Nucleus;Endoplasmic reticulum membrane Anhidrosis, isolated, with normal sweat glands 6 PE1 -NX_Q14573 304106 2671 6.05 6 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 6 PE1 -NX_Q14574 99969 896 5.77 18 Cell membrane;Desmosome;Cell membrane;Cell junction Hypotrichosis and recurrent skin vesicles 1 PE1 -NX_Q14576 39547 367 9.33 19 Cytoplasmic vesicle NA 0 PE1 -NX_Q14582 23528 209 6.46 4 Cytosol;Nucleus NA 0 PE1 -NX_Q14584 62116 549 8.93 19 Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleus NA 0 PE1 -NX_Q14585 55383 488 8.7 19 Nucleus;Nucleus NA 0 PE1 -NX_Q14586 87376 743 9.14 16 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q14587 108374 947 9.14 12 Cytoskeleton;Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_Q14588 80560 700 8.96 19 Nucleus;Nucleus NA 0 PE1 -NX_Q14590 83977 738 8.91 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q14592 63665 562 6.55 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14593 64971 569 9.62 7 Nucleus NA 0 PE1 -NX_Q14596 107413 966 5.03 17 Nucleus;Cytoplasmic vesicle;Nucleoplasm;M line;Lysosome;Autophagosome;Cytoplasm NA 0 PE1 -NX_Q14602 4055 36 10.27 3 NA NA 0 PE5 -NX_Q14623 45251 411 8.98 2 Cell membrane;Extracellular space;Cell membrane Brachydactyly A1;Acrocapitofemoral dysplasia 0 PE1 -NX_Q14624 103357 930 6.51 3 Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_Q14626 45222 422 8.03 9 Membrane Craniosynostosis and dental anomalies 1 PE1 -NX_Q14627 44176 380 4.84 X Nucleus;Nucleolus;Membrane NA 1 PE1 -NX_Q14641 15445 139 9.28 9 Secreted NA 0 PE1 -NX_Q14642 47820 412 6.58 10 Membrane;Cytosol NA 0 PE1 -NX_Q14643 313929 2758 5.71 3 Endoplasmic reticulum membrane;Secretory vesicle membrane;Cytoplasmic vesicle;Perinuclear region Spinocerebellar ataxia 29;Gillespie syndrome;Spinocerebellar ataxia 15 6 PE1 -NX_Q14644 95699 834 6.76 13 Cell membrane NA 0 PE1 -NX_Q14651 70253 629 5.28 3 Cytoplasm NA 0 PE1 -NX_Q14653 47219 427 5.17 19 Cytoplasm;Cytosol;Nucleus Herpes simplex encephalitis 7 0 PE1 -NX_Q14654 43541 390 8.15 11 Membrane Transient neonatal diabetes mellitus 3;Diabetes mellitus, permanent neonatal;Familial hyperinsulinemic hypoglycemia 2;Maturity-onset diabetes of the young 13 2 PE1 -NX_Q14656 29148 261 9.05 X Golgi apparatus;Nucleolus;Cytosol;Membrane NA 6 PE1 -NX_Q14657 14804 143 8.88 X Nucleus;Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q14667 253700 2235 6.71 17 Nucleus speckle;Secreted;Cytosol NA 0 PE1 -NX_Q14669 220434 1992 8.76 2 Nucleus speckle;Nucleoplasm NA 0 PE1 -NX_Q14671 126473 1186 6.35 1 Cytosol;Nucleus;Cytoplasm;Cytoplasmic granule;P-body NA 0 PE1 -NX_Q14674 233175 2120 7.65 12 Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q14676 226666 2089 5.35 6 Nucleus;Nucleus;Nucleoplasm;Chromosome NA 0 PE1 -NX_Q14677 68259 625 6.01 5 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytoplasm;Perinuclear region;Membrane;Clathrin-coated vesicle NA 0 PE1 -NX_Q14678 147289 1352 5.18 9 Cytoplasm;Nucleus;Cell membrane;Ruffle membrane Cerebral palsy, spastic quadriplegic 2 0 PE1 -NX_Q14679 133378 1199 9.04 2 Cilium;Cilium basal body;Mitochondrion NA 0 PE1 -NX_Q14680 74642 651 8.92 9 Cell membrane NA 0 PE1 -NX_Q14681 28527 263 5.21 17 NA NA 0 PE1 -NX_Q14683 143233 1233 7.51 X Cytosol;Nucleoplasm;Chromosome;Kinetochore;Nucleus Cornelia de Lange syndrome 2 0 PE1 -NX_Q14684 84428 758 9.77 21 Nucleolus;Nucleolus;Nucleoplasm;Chromosome NA 0 PE1 -NX_Q14686 219145 2063 9.4 20 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q14687 136164 1217 7.36 16 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q14689 170369 1571 8.35 21 Nucleus;Nucleus NA 0 PE1 -NX_Q14690 208701 1871 8.99 10 Cytoplasmic vesicle;Nucleolus;Nucleolus NA 0 PE1 -NX_Q14691 22988 196 6.96 20 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q14692 145807 1282 6.04 10 Nucleus;Nucleolus;Nucleolus Aplasia cutis congenita, non-syndromic 0 PE1 -NX_Q14693 98664 890 6.14 2 Nucleus membrane;Cytosol;Nucleus;Nucleolus;Endoplasmic reticulum membrane Myoglobinuria, acute recurrent, autosomal recessive 0 PE1 -NX_Q14694 87134 798 5.19 16 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Cytoplasm;Early endosome NA 0 PE1 -NX_Q14695 14937 138 9.04 7 NA NA 0 PE2 -NX_Q14696 26077 234 7.6 15 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum;Nucleus NA 0 PE1 -NX_Q14697 106874 944 5.74 11 Cytosol;Endoplasmic reticulum;Endoplasmic reticulum;Golgi apparatus;Melanosome;Nucleus membrane Polycystic kidney disease 3 0 PE1 -NX_Q14699 63146 578 5.46 3 Cell membrane NA 0 PE1 -NX_Q14703 117749 1052 8.91 16 Endoplasmic reticulum membrane;Golgi apparatus membrane NA 1 PE1 -NX_Q14714 26618 243 8.12 12 Endoplasmic reticulum;Sarcolemma;Nucleus membrane;Nucleus;Postsynaptic cell membrane;Cell membrane NA 4 PE1 -NX_Q14721 95878 858 8.32 20 Membrane;Cell membrane;Dendrite;Axon;Perikaryon;Postsynaptic cell membrane;Synapse;Synaptosome;Lateral cell membrane;Sarcolemma Epileptic encephalopathy, early infantile, 26 6 PE1 -NX_Q14722 46563 419 9.1 3 Cytoplasm;Membrane;Cell membrane NA 0 PE1 -NX_Q14728 48339 455 9.68 4 Membrane;Nucleoplasm;Nucleus membrane NA 11 PE1 -NX_Q14738 69992 602 8.24 6 Nucleus;Cytoplasm;Nucleoplasm;Cytosol Mental retardation, autosomal dominant 35 0 PE1 -NX_Q14739 70703 615 9.41 1 Nucleus inner membrane;Nucleus membrane Reynolds syndrome;Greenberg dysplasia;Pelger-Huet anomaly 8 PE1 -NX_Q14746 83208 738 6.2 1 Golgi apparatus;Golgi apparatus membrane Congenital disorder of glycosylation 2Q 0 PE1 -NX_Q14749 32742 295 6.55 6 Cytosol;Cytoplasm Glycine N-methyltransferase deficiency 0 PE1 -NX_Q14761 21196 206 4.39 11 Membrane NA 1 PE1 -NX_Q14764 99327 893 5.34 16 Cytoplasm;Perinuclear region;Cytosol;Nuclear pore complex NA 0 PE1 -NX_Q14765 85941 748 6.2 2 Cytoplasm;Nucleus Systemic lupus erythematosus 11;Rheumatoid arthritis 0 PE1 -NX_Q14766 186796 1721 5.63 2 Cytosol;Secreted NA 0 PE1 -NX_Q14767 195052 1821 5.06 14 Nucleus;Extracellular matrix Glaucoma 3, primary congenital, D;Weill-Marchesani syndrome 3;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 0 PE1 -NX_Q14773 29265 271 10.13 19 Nucleus speckle;Secreted;Cell membrane NA 1 PE1 -NX_Q14774 50789 488 8.7 1 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14781 56081 532 10.02 17 Nucleus;Nucleoplasm;Chromosome 46,XY sex reversal 5 0 PE1 -NX_Q14789 376019 3259 4.96 3 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q14790 55391 479 5 2 Nucleoplasm;Cytoplasm;Cytosol Caspase-8 deficiency 0 PE1 -NX_Q147U1 60552 533 9.21 19 Cytoskeleton;Nucleus NA 0 PE1 -NX_Q147U7 24598 214 9.2 3 Membrane NA 1 PE2 -NX_Q147X3 39320 362 5.38 14 Cytoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q14802 9263 87 6.8 19 Cell membrane;Cell membrane NA 1 PE1 -NX_Q14807 73262 665 9.5 16 Nucleus;Nucleus speckle;Cytoskeleton;Nucleus Spondyloepimetaphyseal dysplasia with joint laxity, 2 0 PE1 -NX_Q14814 55938 521 7.73 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14831 102251 915 8.2 3 Cell membrane;Cytosol NA 7 PE1 -NX_Q14832 98879 879 7.93 7 Cell membrane NA 7 PE1 -NX_Q14833 101868 912 9.07 6 Cell membrane NA 7 PE1 -NX_Q14839 218005 1912 5.62 12 Nucleus;Centrosome Sifrim-Hitz-Weiss syndrome 0 PE1 -NX_Q14847 29717 261 6.61 17 Cytoplasm;Cytosol;Cytoskeleton;Cell cortex;Focal adhesion;Cell membrane NA 0 PE1 -NX_Q14849 50502 445 8.53 17 Late endosome membrane NA 4 PE1 -NX_Q14863 32645 301 9.24 12 Nucleus;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q14865 132375 1188 8.89 10 Cytosol;Cell membrane;Nucleus Leukemia, acute lymphoblastic 0 PE1 -NX_Q14872 80957 753 5.14 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q14894 33776 314 5.06 16 Cytosol;Cytoplasm Deafness, autosomal dominant, 40 0 PE1 -NX_Q14896 140762 1274 6.24 11 NA Cardiomyopathy, dilated 1MM;Cardiomyopathy, familial hypertrophic 4;Left ventricular non-compaction 10 0 PE1 -NX_Q14914 35870 329 8.45 9 Cytoplasm NA 0 PE1 -NX_Q14916 51132 467 8.89 6 Apical cell membrane;Golgi apparatus NA 10 PE1 -NX_Q14919 22350 205 5.04 11 Cytosol;Nucleus NA 0 PE1 -NX_Q14929 68488 603 9.36 9 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q14934 95449 902 5.29 14 Cytosol;Nucleus speckle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q14938 55098 502 8.9 19 Nucleus Marshall-Smith syndrome;Sotos syndrome 2 0 PE1 -NX_Q14940 99011 896 7.33 16 Membrane;Cytosol;Nucleoplasm NA 12 PE1 -NX_Q14943 42475 382 9.59 19 Cell membrane NA 1 PE1 -NX_Q14952 33717 304 6.1 19 Cell membrane NA 1 PE2 -NX_Q14953 33644 304 6.26 19 Cell membrane NA 1 PE2 -NX_Q14954 33646 304 6.09 19 Cell membrane NA 1 PE2 -NX_Q14956 63923 572 6.17 7 Melanosome;Cell membrane NA 1 PE1 -NX_Q14957 134209 1233 8.82 17 Postsynaptic cell membrane;Cell membrane NA 3 PE1 -NX_Q14964 25007 217 7.57 11 Lysosome;Cell membrane;Phagosome;Phagosome membrane NA 0 PE1 -NX_Q14966 220625 1978 6.02 2 Nucleus speckle;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q14973 38119 349 9.07 14 Membrane NA 8 PE1 -NX_Q14974 97170 876 4.68 17 Cytoplasm;Nucleoplasm;Nucleus envelope;Nucleus membrane;Cytosol NA 0 PE1 -NX_Q14978 73603 699 9.46 10 Nucleolus;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q14980 238260 2115 5.63 11 Nucleoplasm;Cell cortex;Centrosome;Spindle pole;Cell membrane;Cytoskeleton;Chromosome;Nucleus matrix;Nucleoplasm;Lateral cell membrane;Nucleus;Cytosol NA 0 PE1 -NX_Q14982 38008 345 6.45 11 Cell membrane Ovarian cancer 0 PE1 -NX_Q14990 28366 250 8.46 8 NA NA 0 PE1 -NX_Q14993 115221 1142 8.57 6 Extracellular matrix NA 0 PE1 -NX_Q14994 39942 352 8.55 1 Nucleus;Cytoplasm;Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q14995 64625 579 8.04 3 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q14997 211334 1843 6.45 2 Nucleoplasm;Cytosol;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q14999 191161 1698 5.57 6 Cytoplasm;Golgi apparatus;Centrosome;Perinuclear region 3M syndrome 1 0 PE1 -NX_Q149M9 174552 1564 6.28 19 Cytosol NA 0 PE1 -NX_Q149N8 193079 1683 7.3 6 Mitochondrion NA 0 PE1 -NX_Q14BN4 95198 828 5.35 3 Endoplasmic reticulum;Sarcolemma;Centrosome NA 1 PE1 -NX_Q14C86 164980 1478 5.09 9 Cytosol;Membrane;Endosome NA 0 PE1 -NX_Q14C87 122309 1099 5.5 12 Membrane NA 1 PE1 -NX_Q14CB8 55756 494 9.41 10 Cell membrane;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q14CM0 144379 1322 5.12 X Dendritic spine Mental retardation, X-linked 104 0 PE1 -NX_Q14CN2 101283 919 5.27 1 Cell membrane;Apical cell membrane;Secreted NA 1 PE1 -NX_Q14CN4 55877 511 6.53 12 NA NA 0 PE1 -NX_Q14CS0 37077 331 5.49 8 Nucleoplasm;Nucleus;Cytosol;Endoplasmic reticulum;Golgi apparatus NA 0 PE1 -NX_Q14CW9 38651 347 6.62 17 Nucleus speckle;Cell membrane;Nucleus NA 0 PE1 -NX_Q14CX5 57381 517 8.21 10 Golgi apparatus;Membrane;Cytosol NA 11 PE2 -NX_Q14CX7 112292 972 6.21 12 Cytoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q14CZ0 30926 275 7.77 16 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q14CZ7 75689 662 8.62 5 Nucleus;Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q14CZ8 46026 416 9.2 11 Cytoplasmic vesicle;Membrane;Cytoplasm Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A;Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B 1 PE1 -NX_Q14D04 94745 833 6.26 3 Cell membrane;Nucleus;Nucleolus;Cytosol NA 0 PE1 -NX_Q14D33 60488 572 6.12 2 Membrane NA 1 PE1 -NX_Q14DG7 119477 1078 4.63 12 Membrane NA 1 PE1 -NX_Q15003 82563 741 4.92 2 Nucleus;Cytoplasm;Nucleus;Chromosome;Cytosol NA 0 PE1 -NX_Q15004 11986 111 9.85 15 Perinuclear region;Centrosome;Nucleus NA 0 PE1 -NX_Q15005 25003 226 8.69 11 Cytoplasm;Nucleus;Endoplasmic reticulum membrane;Cell membrane;Microsome membrane NA 2 PE1 -NX_Q15006 34834 297 6.15 8 Cytoplasm;Nucleus NA 0 PE1 -NX_Q15007 44244 396 5.12 6 Nucleus speckle;Nucleoplasm;Nucleus speckle;Nucleoplasm NA 0 PE1 -NX_Q15008 45531 389 5.45 3 Nucleus;Cytoplasm;Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q15011 43720 391 5.11 16 Endoplasmic reticulum membrane;Cell membrane;Cytosol NA 2 PE1 -NX_Q15012 26801 233 6.1 2 Golgi apparatus;Cell membrane;Endomembrane system;Cytoplasmic vesicle NA 4 PE1 -NX_Q15013 31052 274 5.94 6 Nucleus membrane;Nucleus;Nucleus;Spindle;Nucleolus NA 0 PE1 -NX_Q15014 32308 288 9.72 X Nucleus;Nucleus NA 0 PE1 -NX_Q15018 46901 415 5.83 10 Cytoplasm;Cytosol;Nucleus;Cytoskeleton;Spindle pole NA 0 PE1 -NX_Q15019 41487 361 6.15 2 Cytosol;Cytoskeleton;Spindle;Cleavage furrow;Cytoplasm;Kinetochore;Midbody;Cell cortex;Cilium membrane;Flagellum;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q15020 109935 963 5.45 12 Cajal body;Nucleoplasm;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q15021 157182 1401 6.19 12 Nucleus;Cytosol;Nucleus;Cytoplasm;Chromosome NA 0 PE1 -NX_Q15022 83055 739 8.98 17 Nucleus;Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q15024 31821 291 5.08 3 Nucleus speckle;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q15025 71864 636 6.23 5 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q15027 81536 740 7.6 17 Cytoplasm;Cytoplasmic vesicle;Recycling endosome membrane NA 0 PE1 -NX_Q15029 109436 972 4.84 17 Cytosol;Nucleoplasm;Nucleus Mandibulofacial dysostosis with microcephaly 0 PE1 -NX_Q15031 101976 903 8.46 3 Nucleoplasm;Mitochondrion matrix;Mitochondrion Hydrops, lactic acidosis, and sideroblastic anemia;Perrault syndrome 4 0 PE1 -NX_Q15032 120696 1099 8.91 2 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q15034 117188 1050 5.86 4 Cytoplasmic vesicle;Cytoplasm;Cytosol NA 0 PE1 -NX_Q15035 43328 370 9.32 6 Cytosol;Membrane NA 7 PE1 -NX_Q15036 52901 470 7.07 2 Cytoplasmic vesicle;Cytoplasm;Early endosome;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q15038 17319 168 6.69 12 Cytoplasm;Nucleus;Nucleus;Nucleus speckle;Cytoplasm NA 0 PE1 -NX_Q15040 23198 202 8.78 22 Cell membrane;Cytoplasm NA 0 PE1 -NX_Q15041 23363 203 9.38 16 Cytoplasm;Endoplasmic reticulum;Cell membrane;Endomembrane system;Endoplasmic reticulum membrane;Endoplasmic reticulum;Endoplasmic reticulum Spastic paraplegia 61, autosomal recessive 3 PE1 -NX_Q15042 110524 981 5.38 2 Cytosol;Nucleoplasm;Cytoplasm Warburg micro syndrome 1 0 PE1 -NX_Q15043 54212 492 5.16 8 Cell membrane;Cell membrane;Endoplasmic reticulum;Golgi apparatus;Cytoplasm;Lamellipodium Hypermanganesemia with dystonia 2 6 PE1 -NX_Q15046 68048 597 5.94 16 Nucleus;Cytosol;Cytosol;Cytoplasm;Mitochondrion;Secreted;Cell membrane Deafness, autosomal recessive, 89;Charcot-Marie-Tooth disease, recessive, intermediate type, B 0 PE1 -NX_Q15047 143157 1291 5.74 1 Nucleus;Chromosome;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q15048 54513 493 6.43 8 Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_Q15049 41141 377 7.46 22 Membrane;Cell membrane;Perinuclear region;Endoplasmic reticulum Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 8 PE1 -NX_Q15050 41193 365 10.69 8 Nucleolus;Nucleolus NA 0 PE1 -NX_Q15051 68929 598 9.19 3 Spindle;Centrosome;Centriole;Cytoskeleton;Cytoskeleton Leber congenital amaurosis 10;Senior-Loken syndrome 5 0 PE1 -NX_Q15052 87499 776 5.79 X Lamellipodium;Cytosol Mental retardation, X-linked 46 0 PE1 -NX_Q15053 17035 153 9.58 1 NA NA 0 PE1 -NX_Q15054 51400 466 9.38 11 Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q15056 27385 248 6.67 7 Cytoplasm;Cytosol;Nucleoplasm;Perinuclear region;Nucleus NA 0 PE1 -NX_Q15057 88029 778 6.38 3 Endosome membrane;Endosome NA 0 PE1 -NX_Q15058 186492 1648 8.06 1 Cytosol;Nucleus;Cytoplasm;Spindle;Midbody Meckel syndrome 12 0 PE1 -NX_Q15059 79542 726 9.39 9 Nucleus;Nucleus NA 0 PE1 -NX_Q15061 74891 677 5.37 2 Nucleolus;Nucleolus;Nucleus NA 0 PE1 -NX_Q15063 93314 836 7.27 13 Extracellular matrix;Secreted;Golgi apparatus;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q15067 74424 660 8.35 17 Nucleus;Peroxisome;Cytoplasmic vesicle Adrenoleukodystrophy, pseudoneonatal 0 PE1 -NX_Q15070 48548 435 9.53 14 Mitochondrion;Mitochondrion inner membrane NA 5 PE1 -NX_Q15072 33308 292 9.15 19 Nucleus;Nucleolus NA 0 PE1 -NX_Q15075 162466 1411 5.55 12 Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Cytoplasm;Early endosome membrane NA 0 PE1 -NX_Q15077 36429 328 9.61 11 Cell membrane NA 7 PE1 -NX_Q15078 34060 307 9.44 17 Cytoplasmic vesicle;Perinuclear region;Nucleoplasm;Cell membrane;Nucleus NA 0 PE1 -NX_Q15080 39032 339 6.4 22 Cytosol;Cytosol;Endosome membrane;Membrane Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive 0 PE1 -NX_Q15084 48121 440 4.95 2 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum lumen;Cell membrane;Melanosome;Endoplasmic reticulum NA 0 PE1 -NX_Q15102 25734 231 6.33 19 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q15109 42803 404 5.83 6 Nucleolus;Cell membrane;Cell junction;Cell membrane;Secreted NA 1 PE1 -NX_Q15111 122728 1095 5.46 2 Cytoplasm NA 0 PE1 -NX_Q15113 47972 449 7.41 7 Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 -NX_Q15116 31647 288 8.25 2 Membrane Systemic lupus erythematosus 2 1 PE1 -NX_Q15118 49244 436 8.92 2 Nucleolus;Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_Q15119 46154 407 6.14 17 Nucleoplasm;Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_Q15120 46939 406 8.46 X Mitochondrion;Nucleolus;Mitochondrion matrix Charcot-Marie-Tooth disease, X-linked dominant, 6 0 PE1 -NX_Q15121 15040 130 4.93 1 Nucleus;Cytosol;Cytoplasm NA 0 PE1 -NX_Q15124 62225 567 6.81 9 Adherens junction;Cytoskeleton NA 0 PE1 -NX_Q15125 26353 230 7.76 X Cytoplasmic vesicle;Nucleus envelope;Endoplasmic reticulum membrane;Endoplasmic reticulum MEND syndrome;Chondrodysplasia punctata 2, X-linked dominant 4 PE1 -NX_Q15126 21995 192 5.56 1 Peroxisome Porokeratosis 1, multiple types 0 PE1 -NX_Q15131 41038 360 9.06 16 Nucleoplasm;Midbody;Midbody ring NA 0 PE1 -NX_Q15139 101704 912 6.16 14 trans-Golgi network;Cytosol;Cell membrane;Cell membrane;Cytoplasm Congenital heart defects and ectodermal dysplasia 0 PE1 -NX_Q15147 134464 1175 6.47 20 Cytoskeleton;Nucleoplasm Auriculocondylar syndrome 2 0 PE1 -NX_Q15149 531791 4684 5.74 8 Cytoplasm;Cytosol;Hemidesmosome;Focal adhesion;Cytoskeleton;Cytoskeleton Epidermolysis bullosa simplex with nail dystrophy;Limb-girdle muscular dystrophy 2Q;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type 0 PE1 -NX_Q15154 228533 2024 4.95 8 Nucleus membrane;Cytosol;Centrosome;Cytoskeleton;Centrosome;Cytoplasmic granule;Centriolar satellite;Cilium basal body NA 0 PE1 -NX_Q15155 134324 1222 5.54 16 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_Q15165 39397 354 5.33 7 Membrane NA 0 PE1 -NX_Q15166 39607 354 5.24 7 Extracellular space NA 0 PE1 -NX_Q15170 18354 157 11.2 X Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15172 56194 486 6.28 1 Cytosol;Cytoplasm;Nucleus;Centromere NA 0 PE1 -NX_Q15173 57393 497 6.27 11 Cytoplasm NA 0 PE1 -NX_Q15181 32660 289 5.54 10 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q15185 18697 160 4.35 12 Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q15195 10915 96 6.11 2 Secreted NA 0 PE2 -NX_Q15198 41861 375 8.75 8 Nucleolus;Golgi apparatus;Secreted;Nucleus Colorectal cancer 0 PE1 -NX_Q15208 54190 465 6.7 6 Nucleus;Cytoplasm NA 0 PE1 -NX_Q15223 57158 517 5.77 11 Secreted;Presynaptic cell membrane;Cell membrane Ectodermal dysplasia, Margarita Island type;Non-syndromic orofacial cleft 7 1 PE1 -NX_Q15233 54232 471 9.01 X Nucleoplasm;Nucleus;Nucleolus;Nucleus speckle Mental retardation, X-linked, syndromic, 34 0 PE1 -NX_Q15238 37713 335 9 19 Secreted NA 0 PE1 -NX_Q15256 73834 657 8.62 12 Cell membrane;Cell junction;Cell membrane;Perinuclear region;Cytosol NA 1 PE1 -NX_Q15257 40668 358 5.63 9 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q15262 162102 1439 5.59 6 Adherens junction;Cell membrane;Cell membrane;Cell junction;Cytoplasmic vesicle NA 1 PE1 -NX_Q15269 102452 919 5.76 21 Nucleolus;Cytosol;Nucleolus NA 0 PE1 -NX_Q15270 40659 411 5.93 4 Nucleus NA 0 PE2 -NX_Q15274 30846 297 5.81 16 NA NA 0 PE1 -NX_Q15276 99290 862 4.95 17 Cytoplasmic vesicle;Cytoplasm;Early endosome;Recycling endosome;Cytoplasmic vesicle NA 0 PE1 -NX_Q15283 96614 850 6.84 3 Perinuclear region;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q15286 23025 201 8.53 12 Melanosome;Endosome;Cell membrane;Clathrin-coated pit;Clathrin-coated vesicle NA 0 PE1 -NX_Q15287 34208 305 11.85 16 Cytoplasm;Nucleoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q15291 59153 538 4.96 1 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q15293 38890 331 4.86 11 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 -NX_Q15303 146808 1308 5.98 2 Cell membrane;Nucleus;Mitochondrion Amyotrophic lateral sclerosis 19 1 PE1 -NX_Q15306 51772 451 6.39 6 Nucleoplasm;Nucleus Multiple myeloma 0 PE1 -NX_Q15311 76063 655 5.68 18 Cytosol;Nucleus membrane;Cytoplasmic vesicle;Membrane NA 0 PE1 -NX_Q15319 37052 338 9.16 5 Nucleus;Nucleoplasm Deafness, autosomal dominant, 15 0 PE1 -NX_Q15323 47237 416 4.84 17 NA NA 0 PE1 -NX_Q15326 70963 602 8.83 10 Chromosome;Nucleus;Nucleoplasm Mental retardation, autosomal dominant 30 0 PE1 -NX_Q15327 36252 319 7.12 10 Nucleolus;Nucleus;Nucleus Total anomalous pulmonary venous return 0 PE1 -NX_Q15329 37610 346 4.94 8 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q15334 115418 1064 5.87 17 Early endosome membrane;trans-Golgi network membrane;Golgi apparatus membrane;Axon;Cytoskeleton NA 0 PE1 -NX_Q15345 88650 812 8.75 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15349 83239 733 8.82 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q15361 103051 905 9.41 9 Nucleolus;Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q15363 22761 201 5.08 12 Cytoplasmic vesicle membrane;cis-Golgi network membrane;Golgi stack membrane;Cytoplasmic vesicle;COPI-coated vesicle membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE1 -NX_Q15365 37498 356 6.66 2 Nucleus speckle;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q15366 38580 365 6.33 12 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q15369 12473 112 4.74 8 Nucleus;Cell junction NA 0 PE1 -NX_Q15370 13133 118 4.73 16 Nucleus NA 0 PE1 -NX_Q15375 112097 998 5.58 6 Cell membrane NA 1 PE1 -NX_Q15382 20497 184 5.65 7 Endomembrane system;Golgi apparatus membrane;Cytosol;Endoplasmic reticulum membrane NA 0 PE1 -NX_Q15386 123923 1083 6.27 7 Nucleus;Nucleoplasm;Cell membrane;Mitochondrion NA 0 PE1 -NX_Q15388 16298 145 8.81 1 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_Q15389 57513 498 6.3 8 Secreted NA 0 PE1 -NX_Q15390 37000 333 9.1 8 Cytosol;Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q15391 38971 338 9.54 3 Cell membrane NA 7 PE2 -NX_Q15392 60101 516 8.42 1 Endoplasmic reticulum membrane;Golgi apparatus membrane Desmosterolosis 1 PE1 -NX_Q15393 135577 1217 5.13 16 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q15397 73584 648 9.65 9 Chromosome;Nucleoplasm;Nucleolus;Nucleolus NA 0 PE1 -NX_Q15398 95115 846 9.11 14 Spindle;Cytoplasm;Microtubule organizing center;Cytosol;Nucleus NA 0 PE1 -NX_Q15399 90291 786 6.62 4 Golgi apparatus;Phagosome membrane;Cell membrane;Membrane raft NA 1 PE1 -NX_Q15404 31540 277 8.57 10 Cytoplasmic vesicle NA 0 PE1 -NX_Q15406 54383 480 5.87 9 Nucleus;Nucleus NA 0 PE1 -NX_Q15413 552042 4870 5.47 15 Cytoplasmic vesicle;Sarcoplasmic reticulum membrane;Sarcoplasmic reticulum;Microsome membrane;Membrane NA 7 PE1 -NX_Q15415 55728 496 9.89 Y Nucleus NA 0 PE1 -NX_Q15417 36414 329 5.69 1 Cytoplasm;Nucleus;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q15418 82723 735 7.68 1 Cytoplasm;Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q15424 102642 915 5.32 19 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q15427 44386 424 8.55 1 Nucleus speckle;Nucleus Acrofacial dysostosis 1, Nager type 0 PE1 -NX_Q15428 49256 464 9.65 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q15431 114192 976 5.78 1 Centromere;Nucleus;Chromosome NA 0 PE1 -NX_Q15434 43959 407 9.15 12 Nucleus;Nucleus;Nucleolus;Cytosol NA 0 PE1 -NX_Q15435 41564 360 4.84 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q15436 86161 765 6.64 14 Cytoplasmic vesicle;Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;COPII-coated vesicle membrane Craniolenticulosutural dysplasia 0 PE1 -NX_Q15437 86479 767 6.43 20 Cytosol;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Cytoplasmic vesicle Cowden syndrome 7;Anemia, congenital dyserythropoietic, 2 0 PE1 -NX_Q15438 46413 398 5.41 17 Nucleolus;Tight junction;Adherens junction;Nucleus;Cell membrane;Cytosol NA 0 PE1 -NX_Q15459 88886 793 5.15 22 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q15464 55042 509 9.1 9 Nucleoplasm;Cytosol;Cytoplasm;Cell membrane;Cytosol NA 0 PE1 -NX_Q15465 49607 462 8.1 7 Cell membrane Holoprosencephaly 3;Triphalangeal thumb-polysyndactyly syndrome;Hypoplasia or aplasia of tibia with polydactyly;Solitary median maxillary central incisor;Laurin-Sandrow syndrome;Preaxial polydactyly 2;Microphthalmia, isolated, with coloboma, 5 0 PE1 -NX_Q15466 28058 257 8.28 1 Cytoplasm;Nucleus Obesity 0 PE1 -NX_Q15468 142955 1287 6.01 1 Cell membrane;Cytosol;Centriole;Cytosol Microcephaly 7, primary, autosomal recessive 0 PE1 -NX_Q15475 32210 284 9.24 14 Nucleus;Nucleus;Nucleolus;Cytoplasm Branchiootic syndrome 3;Deafness, autosomal dominant, 23 0 PE1 -NX_Q15477 137755 1246 5.72 6 Nucleoplasm;Nucleus;Cytoplasm Trichohepatoenteric syndrome 2 0 PE1 -NX_Q15485 34001 313 6.31 9 Secreted NA 0 PE1 -NX_Q15486 15381 140 5.71 5 NA NA 0 PE5 -NX_Q15493 33253 299 5.89 X Nucleus;Cytoplasm NA 0 PE1 -NX_Q15506 17406 151 4.76 11 Membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q15513 7515 63 8.46 1 NA NA 0 PE4 -NX_Q15517 51522 529 8.69 6 Secreted Hypotrichosis 2;Peeling skin syndrome 1 0 PE1 -NX_Q15526 33331 300 9.64 9 Mitochondrion inner membrane Charcot-Marie-Tooth disease 4K;Leigh syndrome 2 PE1 -NX_Q15527 29648 256 9.33 9 Nucleolus;Nucleus NA 0 PE1 -NX_Q15528 22221 200 4.56 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15532 45929 418 5.95 18 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q15542 86830 800 5.4 10 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15543 14287 124 4.72 1 Nucleus;Nucleolus;Nucleus Mental retardation, autosomal recessive 60 0 PE1 -NX_Q15544 23307 211 4.78 6 Golgi apparatus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q15545 40259 349 5.07 5 Nucleoplasm;Golgi apparatus;Nucleus NA 0 PE1 -NX_Q15546 27667 238 9.09 17 Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane NA 7 PE2 -NX_Q15554 59594 542 9.38 16 Nucleus;Telomere;Nucleus NA 0 PE1 -NX_Q15555 37031 327 5.36 18 Cytoskeleton;Nucleoplasm;Cytoskeleton Skin creases, congenital symmetric circumferential, 2 0 PE1 -NX_Q15560 33601 299 9.32 20 Nucleus;Centrosome;Nucleoplasm NA 0 PE1 -NX_Q15561 48329 434 6.88 12 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q15562 49243 447 6.06 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15569 67684 626 8.44 9 NA NA 0 PE1 -NX_Q15572 95213 869 8.91 16 Nucleolus;Nucleus NA 0 PE1 -NX_Q15573 52676 450 9.15 1 Cytoskeleton;Cytoplasmic vesicle;Nucleus;Nucleus NA 0 PE1 -NX_Q15582 74681 683 7.62 5 Cytosol;Secreted;Extracellular matrix Corneal dystrophy, Thiel-Behnke type;Corneal dystrophy, lattice type 1;Corneal dystrophy, epithelial basement membrane;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Avellino type;Corneal dystrophy, Groenouw type 1;Corneal dystrophy, lattice type 3A 0 PE1 -NX_Q15583 43013 401 9.17 18 Nucleoplasm;Nucleus Holoprosencephaly 4 0 PE1 -NX_Q15596 159157 1464 6.19 8 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q15599 37414 337 7.8 16 Cell membrane;Endomembrane system;Nucleus;Apical cell membrane NA 0 PE1 -NX_Q155Q3 77478 683 5.85 11 Cytoplasm;Focal adhesion;Cytosol;Cytosol NA 0 PE1 -NX_Q15612 35598 314 9.12 9 Cell membrane NA 7 PE2 -NX_Q15615 35240 310 8.74 17 Cell membrane NA 7 PE2 -NX_Q15617 34904 311 8.37 11 Cell membrane NA 7 PE2 -NX_Q15619 35042 314 8.18 1 Cell membrane NA 7 PE2 -NX_Q15620 34482 311 8.28 11 Cell membrane NA 7 PE2 -NX_Q15622 35579 319 8.33 19 Cell membrane NA 7 PE2 -NX_Q15628 34247 312 5.94 16 Nucleus;Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q15629 43072 374 9.65 8 Endoplasmic reticulum membrane NA 8 PE1 -NX_Q15631 26183 228 6.01 2 Cytoplasm;Nucleus NA 0 PE1 -NX_Q15633 39039 366 6.11 12 Nucleoplasm;Nucleus;Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 -NX_Q15637 68330 639 9.07 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15642 68352 601 5.55 19 Nucleoplasm;Cytoplasmic vesicle;Lysosome;Cell cortex;Cytoskeleton;Perinuclear region;Phagocytic cup;Cell membrane;Golgi apparatus NA 0 PE1 -NX_Q15643 227586 1979 5.18 14 Nucleus;Golgi apparatus;cis-Golgi network membrane;Cytoskeleton Achondrogenesis 1A 0 PE1 -NX_Q15645 48551 432 5.73 5 Nucleus Mosaic variegated aneuploidy syndrome 3 0 PE1 -NX_Q15646 59226 514 7.96 12 Nucleoplasm;Cytoplasm;Cytosol;Nucleolus NA 0 PE1 -NX_Q15648 168478 1581 8.88 17 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q15649 17607 155 5.51 17 Nucleus;Mitochondrion;Cytoplasm;Nucleus PEHO syndrome 0 PE1 -NX_Q15650 66146 581 8.05 15 Nucleoplasm;Nucleus;Nucleus;Cytosol;Centrosome Muscular dystrophy, congenital, Davignon-Chauveau type;Spinal muscular atrophy with congenital bone fractures 1 0 PE1 -NX_Q15651 10666 99 9.66 6 Nucleus;Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q15652 284525 2540 7.95 10 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q15653 37771 356 4.7 19 Nucleoplasm;Cytosol;Nucleus;Centrosome;Cytoplasm NA 0 PE1 -NX_Q15654 50288 476 7.19 7 Cytosol;Focal adhesion;Cytoskeleton;Focal adhesion;Nucleus;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q15661 30515 275 6.62 16 Secreted NA 0 PE1 -NX_Q15669 21331 191 9.17 4 Cell membrane;Cytoplasm NA 0 PE1 -NX_Q15672 20954 202 9.48 7 Nucleus Saethre-Chotzen syndrome;Craniosynostosis 1;Robinow-Sorauf syndrome 0 PE1 -NX_Q15678 135261 1187 8.53 1 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus Choanal atresia and lymphedema 0 PE1 -NX_Q15691 29999 268 5.02 20 Cytosol;Microtubule organizing center;Cytoskeleton;Centrosome NA 0 PE1 -NX_Q15695 57643 479 9.44 5 Nucleus NA 0 PE2 -NX_Q15696 58045 482 9.75 X Nucleus NA 0 PE1 -NX_Q15697 46455 407 9.66 16 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q15699 36961 326 8.8 12 Nucleus;Nucleoplasm;Nucleus;Golgi apparatus Frontonasal dysplasia 3 0 PE1 -NX_Q156A1 10272 80 5.28 13 Nucleus Spinocerebellar ataxia 8 0 PE1 -NX_Q15700 97552 870 6.03 11 Cytoplasmic vesicle;Cell membrane;Postsynaptic density;Synapse;Membrane;Axon;Cell membrane NA 0 PE1 -NX_Q15714 109677 1073 5.38 13 Cytoplasm;Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15717 36092 326 9.23 19 Nucleus;Nucleolus;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q15722 37557 352 11.11 14 Cell membrane NA 7 PE1 -NX_Q15723 63967 593 6.15 4 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q15726 14705 138 10.17 1 Secreted;Cytoplasmic vesicle Hypogonadotropic hypogonadism 13 with or without anosmia 0 PE1 -NX_Q15735 107197 1006 9.22 22 Cytosol;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q15738 41900 373 8.16 X Endoplasmic reticulum membrane;Endoplasmic reticulum;Lipid droplet;Endoplasmic reticulum;Lipid droplet Congenital hemidysplasia with ichthyosiform erythroderma and limb defects;CK syndrome 1 PE1 -NX_Q15742 56594 525 6.5 12 Nucleus;Nucleus;Cytosol NA 0 PE1 -NX_Q15743 41077 365 7.87 14 Cell membrane Amelogenesis imperfecta, hypomaturation type, 2A6 7 PE1 -NX_Q15744 30603 281 9.13 14 Nucleoplasm;Nucleus Specific granule deficiency 1 0 PE1 -NX_Q15746 210715 1914 5.85 3 Cytosol;Cytoplasm;Lamellipodium;Cytoskeleton;Cleavage furrow Aortic aneurysm, familial thoracic 7 0 PE1 -NX_Q15750 54644 504 5.31 22 Cytosol;Nucleus speckle NA 0 PE1 -NX_Q15751 532228 4861 5.69 15 Golgi apparatus;Cytosol;Membrane Macrocephaly, dysmorphic facies, and psychomotor retardation 0 PE1 -NX_Q15758 56598 541 5.34 19 Melanosome;Cell membrane;Cell membrane NA 10 PE1 -NX_Q15759 41357 364 5.56 22 Nucleus;Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q15760 47687 415 9.6 12 Cell membrane NA 7 PE2 -NX_Q15761 50727 445 9 4 Cell membrane NA 7 PE2 -NX_Q15762 38614 336 8.11 18 Cell membrane NA 1 PE1 -NX_Q15768 35835 340 8.85 17 Membrane;Nucleoplasm NA 1 PE1 -NX_Q15771 23058 203 4.91 11 trans-Golgi network;Cytoplasm;Golgi apparatus;Cytoplasmic vesicle;Membrane NA 0 PE1 -NX_Q15772 354289 3267 8.82 2 Cytoplasmic vesicle;Nucleus Myopathy, centronuclear, 5 0 PE1 -NX_Q15773 28147 248 6.4 12 Cytoplasm;Nucleus;Nucleoplasm;Cell membrane;Cytosol NA 0 PE1 -NX_Q15776 65816 578 7.04 6 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q15777 33360 294 5.85 11 Mitochondrion;Cytoplasmic vesicle;Nucleolus NA 0 PE1 -NX_Q15782 43501 390 7.11 1 Secreted NA 0 PE1 -NX_Q15784 41361 382 6.29 17 Nucleus NA 0 PE1 -NX_Q15785 34559 309 9.12 20 Cytosol;Mitochondrion outer membrane;Cytoplasm NA 0 PE1 -NX_Q15788 156757 1441 5.84 2 Nucleus;Cell membrane;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q15796 52306 467 6.13 18 Nucleus;Cytosol;Cytoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_Q15797 52260 465 6.9 4 Cell membrane;Nucleus;Nucleus;Cytoplasm;Cytosol NA 0 PE1 -NX_Q15800 35216 293 6.75 4 Endoplasmic reticulum membrane Microcephaly, congenital cataract, and psoriasiform dermatitis 3 PE1 -NX_Q15811 195422 1721 7.76 21 Cell membrane;Synaptosome;Lamellipodium;Endomembrane system;Clathrin-coated pit NA 0 PE1 -NX_Q15813 59346 527 6.32 1 Cytoplasm;Cytoskeleton Kenny-Caffey syndrome 1;Encephalopathy, progressive, with amyotrophy and optic atrophy;Hypoparathyroidism-retardation-dysmorphism syndrome 0 PE1 -NX_Q15814 39248 346 5.55 6 Cytoplasm;Cytosol NA 0 PE1 -NX_Q15818 47122 432 6.16 17 Secretory vesicle NA 0 PE1 -NX_Q15819 16363 145 7.79 8 Nucleus;Cytoplasm NA 0 PE1 -NX_Q15822 59765 529 5.69 8 Postsynaptic cell membrane;Cell membrane Epilepsy, nocturnal frontal lobe, 4 4 PE1 -NX_Q15825 56898 494 6.16 8 Cell membrane;Postsynaptic cell membrane NA 4 PE1 -NX_Q15828 16511 149 8.32 11 Cell membrane;Cytosol;Secreted NA 0 PE1 -NX_Q15831 48636 433 7.12 19 Cytosol;Membrane;Cytoplasm;Mitochondrion;Nucleus;Nucleoplasm Peutz-Jeghers syndrome;Testicular germ cell tumor 0 PE1 -NX_Q15833 66453 593 6.11 19 Cytosol Familial hemophagocytic lymphohistiocytosis 5 0 PE1 -NX_Q15834 22091 202 5.06 11 Nucleus;Centrosome NA 0 PE1 -NX_Q15835 63526 563 5.63 13 Membrane Night blindness, congenital stationary, Oguchi type 2 0 PE1 -NX_Q15836 11309 100 8.89 1 Synaptosome;Membrane NA 1 PE1 -NX_Q15842 47968 424 9.38 12 Membrane Hypertrichotic osteochondrodysplasia;Sudden infant death syndrome 2 PE1 -NX_Q15843 9072 81 7.99 14 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q15846 54215 466 5.09 18 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q15847 7855 76 5.17 10 Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q15848 26414 244 5.42 3 Secreted Diabetes mellitus, non-insulin-dependent;Adiponectin deficiency 0 PE1 -NX_Q15849 101209 920 6.51 18 Apical cell membrane NA 17 PE1 -NX_Q15853 36955 346 4.97 19 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q15858 226372 1988 6.55 2 Focal adhesion;Cell membrane;Cell membrane;Cell projection;Cytoskeleton Generalized epilepsy with febrile seizures plus 7;Paroxysmal extreme pain disorder;Febrile seizures, familial, 3B;Indifference to pain, congenital, autosomal recessive;Primary erythermalgia 24 PE1 -NX_Q15878 261731 2313 8.52 1 Cell membrane;Membrane;Cytoskeleton;Cytosol NA 24 PE1 -NX_Q15884 49703 450 6.57 9 Membrane NA 1 PE1 -NX_Q15904 52026 470 5.73 X Endoplasmic reticulum;Endoplasmic reticulum membrane;Cytosol;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cell membrane;Cytoskeleton Immunodeficiency 47 1 PE1 -NX_Q15906 40594 364 6.09 1 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q15907 24489 218 5.64 19 Microtubule organizing center;Cytoplasmic vesicle;Phagosome membrane;Recycling endosome membrane;Synaptic vesicle membrane NA 0 PE1 -NX_Q15910 85363 746 6.65 7 Nucleoplasm;Nucleus Weaver syndrome 0 PE1 -NX_Q15911 404419 3703 5.82 16 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q15915 48309 447 8.7 3 Cytoplasm;Nucleoplasm;Nucleus Craniosynostosis 6 0 PE1 -NX_Q15916 48236 424 6.29 9 Mitochondrion;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q15928 55249 474 9.43 4 Nucleus Polydactyly, postaxial A6 0 PE1 -NX_Q15929 18651 161 8.85 19 Nucleus NA 0 PE5 -NX_Q15935 61964 545 9.04 19 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q15937 55350 498 8.54 9 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 -NX_Q15940 22988 193 9.85 19 NA NA 0 PE5 -NX_Q15942 61277 572 6.22 7 Focal adhesion;Cytoplasm;Cytoskeleton;Nucleus;Focal adhesion NA 0 PE1 -NX_Q15973 40217 351 9.11 1 Nucleus membrane;Nucleus;Nucleus NA 0 PE1 -NX_Q16048 9715 86 6.72 5 NA NA 0 PE5 -NX_Q16082 20233 182 5.07 11 Cytoplasm;Nucleus NA 0 PE1 -NX_Q16099 107246 956 6.3 11 Cell membrane;Postsynaptic cell membrane NA 3 PE2 -NX_Q16134 68495 617 7.31 4 Mitochondrion inner membrane Glutaric aciduria 2C 0 PE1 -NX_Q16143 14288 134 4.41 5 Cytoplasm NA 0 PE1 -NX_Q16181 50680 437 8.76 7 Cytoskeleton;Cytoskeleton;Cleavage furrow;Midbody;Cilium axoneme;Flagellum;Cytoplasm;Kinetochore;Spindle NA 0 PE1 -NX_Q16186 42153 407 4.96 20 Cytosol;Cell membrane;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q16204 53291 474 6.87 10 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q16206 70082 610 5.67 X Cell membrane;Extracellular space;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q16222 58769 522 5.92 1 Cytoplasm;Cell membrane;Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q16236 67827 605 4.67 2 Cytoplasm;Nucleus;Cytosol;Nucleus;Cell membrane;Nucleus;Cytosol NA 0 PE1 -NX_Q16254 43960 413 4.66 16 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q16270 29130 282 8.25 4 Golgi apparatus;Secreted Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 0 PE1 -NX_Q16280 76048 664 5.88 X Membrane NA 6 PE2 -NX_Q16281 78838 694 7.56 2 Membrane Achromatopsia 2 6 PE1 -NX_Q16288 94428 839 6.12 15 Nucleus membrane;Nucleolus;Membrane NA 1 PE1 -NX_Q16322 57785 511 4.85 1 Membrane;Nucleoplasm;Cytosol NA 6 PE1 -NX_Q16342 38592 344 5.25 6 Nucleoplasm;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q16348 81783 729 8.4 3 Membrane NA 13 PE1 -NX_Q16352 55391 499 5.34 10 Nucleoplasm;Cytoskeleton;Nucleus membrane NA 0 PE1 -NX_Q16363 202524 1823 5.89 6 Cytosol;Basement membrane;Cell membrane Cardiomyopathy, dilated 1JJ 0 PE1 -NX_Q16378 15097 134 6.5 12 Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_Q16384 21931 188 9.46 X NA NA 0 PE1 -NX_Q16385 21620 188 5.61 X Nucleus NA 0 PE1 -NX_Q16394 86255 746 9.16 8 Endoplasmic reticulum membrane;Golgi apparatus membrane Chondrosarcoma;Hereditary multiple exostoses 1;Tricho-rhino-phalangeal syndrome 2 1 PE1 -NX_Q16401 56196 504 5.35 9 Nucleus;Cytosol NA 0 PE1 -NX_Q16445 51024 453 8.39 5 Postsynaptic cell membrane;Cell membrane NA 4 PE2 -NX_Q16473 33740 311 5.29 6 NA NA 0 PE5 -NX_Q16478 109265 980 8.54 19 Postsynaptic cell membrane;Cell membrane NA 3 PE1 -NX_Q16512 103932 942 5.99 19 Cytoplasm;Nucleus;Cytosol;Cytoplasm;Nucleus;Endosome;Cell membrane;Cleavage furrow;Midbody;Nucleus NA 0 PE1 -NX_Q16513 112035 984 5.95 1 Cell junction;Midbody;Cleavage furrow;Cytoskeleton;Lamellipodium;Cytoplasm;Nucleus;Membrane NA 0 PE1 -NX_Q16514 17924 161 7.78 1 Nucleus NA 0 PE1 -NX_Q16515 57709 512 5.07 17 Cell membrane NA 2 PE1 -NX_Q16517 9237 81 10.17 20 NA NA 0 PE2 -NX_Q16518 60948 533 6.05 1 Cell membrane;Microsome membrane;Cytoplasm Retinitis pigmentosa 20;Leber congenital amaurosis 2 0 PE1 -NX_Q16520 14120 125 8.82 14 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q16526 66395 586 8.27 12 Nucleus membrane;Nucleus;Cytoplasm;Nucleus;Cytoskeleton Delayed sleep phase syndrome 0 PE1 -NX_Q16527 20954 193 8.95 12 Nucleus NA 0 PE1 -NX_Q16531 126968 1140 5.14 11 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q16533 42994 368 9.53 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q16534 33199 295 7.76 17 Nucleus;Nucleus NA 0 PE2 -NX_Q16537 54699 467 6.51 14 Cytosol;Cytoplasm NA 0 PE1 -NX_Q16538 63930 588 8.83 12 Microtubule organizing center;Cell membrane NA 7 PE1 -NX_Q16539 41293 360 5.48 6 Cytoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q16540 17781 153 9.69 11 Nucleolus;Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q16543 44468 378 5.17 19 Nucleus;Cytosol;Cytoplasm;Cytoplasm NA 0 PE1 -NX_Q16548 20132 175 5.32 15 Cytoplasm NA 0 PE1 -NX_Q16549 86247 785 5.51 11 trans-Golgi network membrane;Nucleus membrane;Nucleolus;Nucleus NA 1 PE1 -NX_Q16552 17504 155 8.82 6 Secreted NA 0 PE1 -NX_Q16553 13507 131 8.06 8 Cell membrane NA 0 PE1 -NX_Q16555 62294 572 5.95 8 Membrane;Cytoskeleton;Cytosol;Cell membrane;Cytosol NA 0 PE1 -NX_Q16557 47945 428 8.74 19 Secreted NA 0 PE1 -NX_Q16558 21797 191 9.12 5 Membrane NA 2 PE1 -NX_Q16559 12291 108 10.48 9 Cytosol NA 0 PE1 -NX_Q16560 29450 246 9.86 12 Nucleolus;Nucleus NA 0 PE1 -NX_Q16563 28565 259 8.69 7 Cytoplasmic vesicle membrane;Melanosome NA 4 PE1 -NX_Q16566 51926 473 5.6 5 Nucleolus;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q16568 12829 116 8.55 5 Secreted NA 0 PE1 -NX_Q16570 35553 336 6.1 1 Early endosome;Recycling endosome;Membrane NA 7 PE1 -NX_Q16572 56903 532 5.81 10 Membrane Myasthenic syndrome, congenital, 21, presynaptic 12 PE1 -NX_Q16576 47820 425 4.89 X Nucleus NA 0 PE1 -NX_Q16581 53864 482 6.2 12 Cell membrane NA 7 PE1 -NX_Q16584 92688 847 8.4 11 Centrosome;Cytosol;Microtubule organizing center NA 0 PE1 -NX_Q16585 34777 318 8.86 4 Cytosol;Sarcolemma;Cytoskeleton Limb-girdle muscular dystrophy 2E 1 PE1 -NX_Q16586 42875 387 5.5 17 Sarcolemma;Cytoskeleton Limb-girdle muscular dystrophy 2D 1 PE1 -NX_Q16587 72207 644 8.77 22 Nucleus;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q16589 38866 344 5.33 4 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q16594 28974 264 8.77 5 Nucleus NA 0 PE1 -NX_Q16595 23135 210 8.8 9 Mitochondrion;Cytosol;Mitochondrion;Cytosol Friedreich ataxia 0 PE1 -NX_Q16600 51591 458 7.71 10 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_Q16602 52929 461 6.27 2 Cell membrane;Cell membrane NA 7 PE1 -NX_Q16609 14886 132 5.21 6 Secreted NA 0 PE5 -NX_Q16610 60674 540 6.25 1 Nucleoplasm;Extracellular matrix;Cytosol Lipoid proteinosis 0 PE1 -NX_Q16611 23409 211 5.66 6 Mitochondrion membrane NA 1 PE1 -NX_Q16612 7909 68 9.16 5 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q16613 23344 207 7.2 17 Cytosol;Cytoplasm NA 0 PE1 -NX_Q16617 17665 165 5.88 19 Cytoplasmic vesicle;Cell membrane;Cytoplasmic granule membrane NA 4 PE1 -NX_Q16619 21227 201 9.18 16 Secreted NA 0 PE1 -NX_Q16620 91999 822 6.01 9 Cell membrane;Endosome membrane;Early endosome membrane;Cytosol Obesity, hyperphagia, and developmental delay 1 PE1 -NX_Q16621 41473 373 4.89 12 PML body;Cytoplasm NA 0 PE1 -NX_Q16623 33023 288 5.14 7 Synaptic vesicle membrane;Synaptosome;Cell membrane;Secreted NA 1 PE1 -NX_Q16625 59144 522 5.77 5 Cell membrane;Tight junction;Cell membrane;Cell junction Pseudo-TORCH syndrome 1 4 PE1 -NX_Q16626 19905 185 4.13 6 Nucleus;Cytosol NA 0 PE1 -NX_Q16627 10678 93 8.95 17 Secreted NA 0 PE1 -NX_Q16629 27367 238 11.83 2 Nucleus;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q16630 59210 551 6.66 12 Nucleus speckle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q16633 27436 256 4.87 11 Nucleus NA 0 PE1 -NX_Q16635 33459 292 9.1 X Endoplasmic reticulum;Cytoplasm;Membrane;Cell membrane Barth syndrome 1 PE1 -NX_Q16637 31849 294 6.13 5 Cajal body;Nucleus;Cytosol;Gem;Z line;Cytoplasmic granule;Perikaryon;Cell projection;Cytoplasm Spinal muscular atrophy 4;Spinal muscular atrophy 1;Spinal muscular atrophy 3;Spinal muscular atrophy 2 0 PE1 -NX_Q16643 71429 649 4.41 5 Cytoskeleton;Cell membrane;Cytoplasm;Cell cortex;Cell membrane;Cytoskeleton;Growth cone;Cell projection;Cell junction NA 0 PE1 -NX_Q16644 42987 382 6.87 3 Nucleoplasm;Cytoplasm;Nucleus Macular dystrophy, patterned, 3 0 PE1 -NX_Q16647 57104 500 6.8 20 Endoplasmic reticulum membrane Essential hypertension 1 PE1 -NX_Q16649 51472 462 6.7 9 Nucleus;Nucleus NA 0 PE1 -NX_Q16650 74053 682 6.89 2 Nucleus NA 0 PE1 -NX_Q16651 36431 343 5.52 16 Cytosol;Cell membrane;Extracellular space;Extracellular space NA 1 PE1 -NX_Q16653 28193 247 8.87 6 Cell membrane;Cell membrane Narcolepsy 7 2 PE1 -NX_Q16654 46469 411 6.19 7 Mitochondrion matrix NA 0 PE1 -NX_Q16655 13157 118 8.29 9 Endoplasmic reticulum membrane;Golgi apparatus;trans-Golgi network membrane;Melanosome NA 1 PE1 -NX_Q16656 53541 503 4.94 7 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q16658 54530 493 6.84 7 Cytosol;Cell membrane;Cytosol;Cytoskeleton;Filopodium;Invadopodium;Microvillus;Cell junction NA 0 PE1 -NX_Q16659 82681 721 4.91 15 Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q16661 12069 112 6.02 1 Secreted NA 0 PE1 -NX_Q16663 12248 113 8.49 17 Golgi apparatus;Secreted;Cytoplasmic vesicle NA 0 PE1 -NX_Q16665 92670 826 5.17 14 Cell membrane;Nucleus speckle;Cytoplasm;Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q16666 88256 785 9.31 1 Cytosol;Nucleus;Cytoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_Q16667 23805 212 5.97 14 Cytoplasm;Cytosol;Perinuclear region Hepatocellular carcinoma 0 PE1 -NX_Q16670 55254 478 8.36 6 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q16671 62750 573 5.53 12 Cytoplasmic vesicle;Membrane Persistent Muellerian duct syndrome 2 1 PE1 -NX_Q16674 14509 131 9.04 19 Secreted NA 0 PE1 -NX_Q16676 46140 465 5.03 5 Nucleus NA 0 PE1 -NX_Q16678 60846 543 9.18 2 Mitochondrion;Mitochondrion;Endoplasmic reticulum membrane;Microsome membrane Glaucoma 3, primary congenital, A;Glaucoma 1, open angle, A;Glaucoma, primary open angle;Anterior segment dysgenesis 6 0 PE1 -NX_Q16690 42047 384 8.69 10 Nucleus NA 0 PE1 -NX_Q16695 15508 136 11.13 1 Nucleus;Chromosome;Nucleoplasm NA 0 PE1 -NX_Q16696 56688 494 9.31 19 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 -NX_Q16698 36068 335 9.35 8 Cytosol;Mitochondrion;Mitochondrion 2,4-dienoyl-CoA reductase deficiency 0 PE1 -NX_Q16706 131141 1144 7.24 5 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q16718 13459 116 5.75 7 Mitochondrion inner membrane NA 0 PE1 -NX_Q16719 52352 465 6.56 2 Cytoplasm Hydroxykynureninuria 0 PE1 -NX_Q16720 134197 1220 5.45 X Cell membrane;Golgi apparatus;Cell membrane Spinocerebellar ataxia, X-linked 1 10 PE1 -NX_Q16739 44854 394 7.94 9 Cell membrane;Cytoplasm;Golgi apparatus membrane NA 5 PE1 -NX_Q16740 30180 277 8.26 19 Mitochondrion matrix;Mitochondrion Perrault syndrome 3 0 PE1 -NX_Q16760 134525 1214 7.62 2 Cytosol;Cytoplasm;Membrane NA 0 PE1 -NX_Q16762 33429 297 6.77 22 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q16763 23845 222 8.45 19 Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q16769 40877 361 6.12 2 Cytosol;Secreted NA 0 PE1 -NX_Q16772 25302 222 9.21 6 Cytoplasm NA 0 PE1 -NX_Q16773 47875 422 6.02 9 Cytoplasm;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q16774 21726 197 6.11 1 NA NA 0 PE1 -NX_Q16775 33806 308 8.34 16 Mitochondrion matrix;Cytoplasm NA 0 PE1 -NX_Q16777 13988 129 10.9 1 Nucleus;Chromosome NA 0 PE1 -NX_Q16778 13920 126 10.31 1 Nucleus;Chromosome NA 0 PE1 -NX_Q16787 366649 3333 7.03 18 Cytoplasmic vesicle;Basement membrane;Endoplasmic reticulum;Cytosol Epidermolysis bullosa, junctional, Herlitz type;Laryngoonychocutaneous syndrome 0 PE1 -NX_Q16790 49698 459 4.64 9 Cell membrane;Nucleus;Nucleolus;Cell membrane;Microvillus membrane;Cytosol NA 1 PE1 -NX_Q16795 42510 377 9.81 12 Nucleoplasm;Mitochondrion;Mitochondrion matrix Leigh syndrome 0 PE1 -NX_Q16798 67068 604 8.16 11 Mitochondrion matrix NA 0 PE1 -NX_Q16799 83618 776 4.62 14 Endoplasmic reticulum;Endoplasmic reticulum membrane NA 2 PE1 -NX_Q16816 45024 387 6.4 7 NA NA 0 PE1 -NX_Q16819 84419 746 5.43 6 Membrane NA 1 PE1 -NX_Q16820 79571 701 5.45 18 Cell membrane;Secreted NA 1 PE1 -NX_Q16821 125767 1122 4.91 7 Membrane Diabetes mellitus, non-insulin-dependent 1 PE1 -NX_Q16822 70730 640 7.57 14 Mitochondrion;Mitochondrion Mitochondrial phosphoenolpyruvate carboxykinase deficiency 0 PE1 -NX_Q16825 133281 1174 8 14 Nucleus;Cytoskeleton NA 0 PE1 -NX_Q16827 138344 1216 5.68 12 Membrane Nephrotic syndrome 6 1 PE1 -NX_Q16828 42320 381 4.75 12 Cytosol;Nucleoplasm;Cytoplasm Hypogonadotropic hypogonadism 19 with or without anosmia 0 PE1 -NX_Q16829 44957 419 5.73 3 Cytoplasm NA 0 PE1 -NX_Q16831 33934 310 8.17 7 Nucleoplasm NA 0 PE1 -NX_Q16832 96736 855 5.2 1 Cell membrane;Cytoskeleton;Cell membrane Spondyloepimetaphyseal dysplasia short limb-hand type 1 PE1 -NX_Q16836 34294 314 8.88 4 Mitochondrion matrix;Mitochondrion 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency;Familial hyperinsulinemic hypoglycemia 4 0 PE1 -NX_Q16842 40173 350 8.59 16 Golgi stack membrane;Cytoplasmic vesicle;Secreted NA 1 PE1 -NX_Q16849 105848 979 6.67 2 Endosome;Secretory vesicle membrane;Membrane;Secretory vesicle membrane;Cell membrane;Nucleus;Perikaryon;Axon;Synapse;Endoplasmic reticulum NA 1 PE1 -NX_Q16850 56806 503 8.72 7 Endoplasmic reticulum;Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 -NX_Q16851 56940 508 8.15 2 Cytoplasm;Centrosome;Mitochondrion;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q16853 84622 763 6.05 17 Cell membrane;Golgi apparatus;Cytosol NA 1 PE1 -NX_Q16854 32056 277 8.76 2 Mitochondrion Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4;Mitochondrial DNA depletion syndrome 3;Portal hypertension, non-cirrhotic 0 PE1 -NX_Q16864 13370 119 5.29 7 NA NA 0 PE1 -NX_Q16873 16567 150 10.2 5 Nucleus outer membrane;Endoplasmic reticulum membrane NA 4 PE1 -NX_Q16875 59609 520 8.49 10 Nucleoplasm NA 0 PE1 -NX_Q16877 54040 469 6.21 3 Nucleolus NA 0 PE1 -NX_Q16878 22972 200 6.11 5 Nucleoplasm NA 0 PE1 -NX_Q16880 61438 541 9.54 4 Mitochondrion;Membrane NA 1 PE1 -NX_Q16881 70906 649 7.16 12 Cytoplasm;Nucleus;Nucleus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q16890 22449 204 5.45 6 Cell membrane;Cytosol;Cell junction NA 0 PE1 -NX_Q16891 83678 758 6.08 2 Mitochondrion;Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_Q17R31 30333 274 6.67 1 Nucleoplasm;Golgi apparatus;Focal adhesion;Nucleus NA 0 PE1 -NX_Q17R55 42387 369 6.46 19 Membrane NA 1 PE1 -NX_Q17R60 89387 797 4.79 6 Secreted Macular dystrophy, vitelliform, 4 0 PE1 -NX_Q17R89 89247 818 6.13 17 Dendritic spine;Recycling endosome;Synapse NA 0 PE1 -NX_Q17R98 119165 1081 6.43 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q17RA5 8913 79 7.76 21 NA NA 0 PE5 -NX_Q17RB0 13246 113 5.17 X NA NA 0 PE1 -NX_Q17RB8 86725 773 6.93 8 Cell membrane;Cytosol;Centrosome NA 0 PE1 -NX_Q17RC7 79896 722 5.92 14 NA NA 0 PE1 -NX_Q17RD7 72274 645 5.39 14 NA NA 0 PE1 -NX_Q17RF5 15556 130 10.51 4 Secreted Amelogenesis imperfecta, hypomaturation type, 2A4 0 PE1 -NX_Q17RG1 104938 926 5.84 16 NA NA 0 PE1 -NX_Q17RH7 24139 258 11.48 3 NA NA 0 PE5 -NX_Q17RM4 81643 750 6.58 2 NA NA 0 PE1 -NX_Q17RN3 37329 349 6.89 19 Nucleolus;Cytosol;Nucleus NA 0 PE1 -NX_Q17RP2 58656 521 6.34 5 Nucleus;Nucleus;Cytoskeleton;Nucleoplasm;Cytoplasmic vesicle NA 0 PE2 -NX_Q17RQ9 67780 610 9.13 19 Membrane NA 3 PE1 -NX_Q17RR3 52254 467 8.56 10 Secreted NA 0 PE2 -NX_Q17RS7 102884 908 8.04 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q17RW2 175496 1714 8.46 1 Extracellular matrix NA 0 PE1 -NX_Q17RY0 80152 729 6.7 5 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm;Golgi apparatus;Dendrite;Dendritic spine;Postsynaptic density;Axon;Growth cone;Endoplasmic reticulum;Perinuclear region NA 0 PE1 -NX_Q17RY6 18673 165 7.43 8 Cell membrane;Secreted;Acrosome;Membrane raft;Cytoplasm;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q18PE1 53097 504 6.43 4 Synapse;Nucleoplasm;Cell membrane;Mitochondrion Myasthenic syndrome, congenital, 10 0 PE1 -NX_Q19AV6 15386 140 6.7 17 Nucleus;Cytosol NA 0 PE1 -NX_Q19T08 21295 205 7.73 5 Cell membrane;Cytoplasm NA 1 PE1 -NX_Q1A5X6 18226 159 9.52 3 NA NA 0 PE2 -NX_Q1A5X7 18091 153 5.71 15 Nucleus NA 0 PE5 -NX_Q1AE95 42940 376 9.25 3 Membrane NA 1 PE2 -NX_Q1ED39 51589 458 9.86 16 Nucleolus;Cytosol;Nucleolus NA 0 PE1 -NX_Q1EHB4 67647 618 8.44 11 Endoplasmic reticulum;Apical cell membrane NA 13 PE1 -NX_Q1HG43 37815 343 6.3 15 Membrane NA 5 PE1 -NX_Q1HG44 34787 320 8.51 15 Endoplasmic reticulum membrane Thyroid dyshormonogenesis 5 5 PE1 -NX_Q1KMD3 85105 747 4.85 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q1L5Z9 83654 754 5.65 2 Nucleus NA 0 PE1 -NX_Q1L6U9 14993 139 6.96 9 Cytosol;Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q1MSJ5 145522 1256 6.37 8 Microtubule organizing center;Spindle;Centrosome;Spindle pole Joubert syndrome 21 0 PE1 -NX_Q1MX18 63469 579 5.37 11 Cytoplasm;Cell cortex NA 0 PE1 -NX_Q1RMZ1 46324 405 5.75 7 Cytosol NA 0 PE1 -NX_Q1RN00 22217 199 9.19 3 NA NA 0 PE1 -NX_Q1T7F1 8815 81 6.05 19 Cytoplasm NA 0 PE5 -NX_Q1W209 24186 222 9.39 3 Nucleus NA 0 PE2 -NX_Q1W4C9 11051 94 8.51 5 Cell membrane;Secreted;Nucleus NA 0 PE2 -NX_Q1W6H9 33863 321 9.93 2 Cytoskeleton;Centrosome;Nucleus;Spindle pole NA 0 PE1 -NX_Q1X8D7 83823 754 6.68 16 NA NA 0 PE1 -NX_Q1XH10 90476 827 7.63 10 NA NA 0 PE1 -NX_Q1ZYL8 26510 232 7.18 19 Secreted;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q1ZZU3 26739 235 10.25 9 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q24JP5 110110 1023 5.43 11 Endoplasmic reticulum membrane;Golgi apparatus membrane;Mitochondrion NA 1 PE1 -NX_Q24JQ0 32647 296 8.97 18 Membrane;Cytoplasmic vesicle;Golgi apparatus NA 10 PE2 -NX_Q27J81 135624 1249 5.26 14 Endoplasmic reticulum;Perinuclear region;Nucleus Charcot-Marie-Tooth disease, dominant, intermediate type, E;Focal segmental glomerulosclerosis 5 0 PE1 -NX_Q29718 40421 362 5.66 6 Membrane NA 1 PE1 -NX_Q29836 40342 362 5.77 6 Membrane NA 1 PE1 -NX_Q29865 40933 366 6.18 6 Membrane NA 1 PE1 -NX_Q29940 40584 362 5.89 6 Membrane NA 1 PE1 -NX_Q29960 40753 366 6.09 6 Cell membrane;Secreted NA 1 PE1 -NX_Q29963 40969 366 5.68 6 Membrane Psoriasis 1 1 PE1 -NX_Q29974 30030 266 7.64 6 Late endosome membrane;Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane NA 1 PE1 -NX_Q29980 42646 383 6.5 6 Cell membrane Rheumatoid arthritis 1 PE1 -NX_Q29983 42915 383 6.49 6 Cytoplasm;Cell membrane Psoriasis 1;Psoriatic arthritis 1 PE1 -NX_Q29RF7 150830 1337 8.15 4 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q2HXU8 31616 276 5.5 12 Cell membrane NA 1 PE1 -NX_Q2I0M4 34857 334 9.6 9 Cell membrane;Cell membrane;Cytoskeleton NA 1 PE1 -NX_Q2I0M5 26171 234 9.38 20 Secreted Nail disorder, non-syndromic congenital, 4 0 PE1 -NX_Q2KHM9 109407 967 7.6 17 Cytosol;Centriole;Centrosome;Centriolar satellite;Centrosome Orofaciodigital syndrome 15 0 PE1 -NX_Q2KHN1 27412 245 9.07 16 Cytoplasm;Nucleus NA 0 PE1 -NX_Q2KHR2 146896 1363 6.29 15 Nucleus;Nucleus membrane;Nucleus;Nucleus NA 0 PE1 -NX_Q2KHR3 189972 1735 6.61 11 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q2KHT3 117715 1053 5.55 16 Endosome membrane;Lysosome membrane;Nucleus;Cytoplasmic vesicle Diabetes mellitus, insulin-dependent 0 PE1 -NX_Q2KHT4 39248 349 8.25 12 Endoplasmic reticulum membrane NA 4 PE1 -NX_Q2KJY2 223883 2108 8.76 1 Cytoskeleton;Cell membrane;Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q2L4Q9 58410 553 5.46 16 Secreted NA 0 PE2 -NX_Q2LD37 555482 5005 6.12 4 Membrane;Centrosome;Nucleoplasm NA 1 PE1 -NX_Q2M1K9 144605 1284 6.43 16 Nucleus;Nucleus Nephronophthisis 14;Joubert syndrome 19 0 PE1 -NX_Q2M1P5 150587 1343 6.37 15 Cilium basal body;Cilium Hydrolethalus syndrome 2;Al-Gazali-Bakalinova syndrome;Joubert syndrome 12;Pallister-Hall syndrome;Bardet-Biedl syndrome;Acrocallosal syndrome 0 PE1 -NX_Q2M1V0 27011 245 8.91 22 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q2M1Z3 156985 1444 5.55 3 Lamellipodium;Focal adhesion Adams-Oliver syndrome 1 0 PE1 -NX_Q2M218 76094 657 9.07 X Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q2M238 17255 152 9.03 16 NA NA 0 PE5 -NX_Q2M243 75354 656 5.53 1 NA NA 0 PE1 -NX_Q2M296 42173 383 8.93 16 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q2M2D7 24072 210 9.69 17 NA NA 0 PE2 -NX_Q2M2E3 29233 257 6.71 17 Membrane NA 3 PE1 -NX_Q2M2E5 14817 130 9.54 5 Secreted NA 0 PE2 -NX_Q2M2H8 277990 2515 5.02 7 Cytoplasmic vesicle;Membrane;Cytosol NA 1 PE1 -NX_Q2M2I3 51780 478 9.42 19 NA NA 0 PE1 -NX_Q2M2I5 55087 525 4.89 17 Cytoskeleton;Cytosol NA 0 PE1 -NX_Q2M2I8 103885 961 6.16 2 Cytosol;Cell membrane;Clathrin-coated pit;Cell membrane NA 0 PE1 -NX_Q2M2W7 11219 97 10.7 17 Cytosol;Cell membrane NA 0 PE1 -NX_Q2M2Z5 75111 673 5.44 20 Cilium basal body;Centrosome Retinitis pigmentosa 69 0 PE1 -NX_Q2M329 62711 555 4.92 4 Centrosome NA 0 PE1 -NX_Q2M385 78587 716 7.77 11 Membrane NA 1 PE1 -NX_Q2M389 136403 1173 7.1 12 Nucleoplasm;Early endosome Mental retardation, autosomal recessive 43 0 PE1 -NX_Q2M3A8 16456 158 6.69 11 NA NA 0 PE5 -NX_Q2M3C6 58444 531 4.63 15 Membrane;Cell membrane;Cell membrane;Cytosol NA 3 PE1 -NX_Q2M3C7 186456 1700 5.04 2 Cytoplasm NA 0 PE1 -NX_Q2M3D2 45859 409 7.65 19 Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q2M3G0 138641 1257 7.29 7 Cell membrane NA 11 PE1 -NX_Q2M3G4 90786 852 5.81 5 Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 -NX_Q2M3M2 74073 681 6.71 1 Cytoskeleton;Cytosol;Membrane NA 14 PE1 -NX_Q2M3R5 39836 365 8.46 10 Endoplasmic reticulum membrane;Cell membrane NA 10 PE1 -NX_Q2M3T9 54249 481 8.68 7 Membrane NA 2 PE1 -NX_Q2M3V2 57443 549 10.19 5 NA NA 0 PE1 -NX_Q2M3W8 65842 571 9.12 19 Nucleus;Nucleus NA 0 PE1 -NX_Q2M3X9 67199 581 9.32 X Nucleus NA 0 PE1 -NX_Q2M5E4 17671 152 6.6 1 NA NA 0 PE2 -NX_Q2MJR0 42670 410 8.67 19 Nucleoplasm;Cytosol;Cell membrane;Membrane NA 0 PE2 -NX_Q2MKA7 28959 263 9.46 1 Secreted;Nucleus Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal 0 PE1 -NX_Q2MV58 63570 587 5.32 12 Cytoskeleton;Secreted;Cilium basal body;Nucleoplasm Joubert syndrome 13 0 PE1 -NX_Q2NKJ3 134609 1217 8.23 17 Nucleus;Telomere Cerebroretinal microangiopathy with calcifications and cysts 1 0 PE1 -NX_Q2NKQ1 129718 1148 5.43 22 trans-Golgi network;Cytoplasmic vesicle membrane;Cytoplasm NA 0 PE1 -NX_Q2NKX8 141103 1250 5.19 X Cytosol;Centromere;Kinetochore;Nucleoplasm;Centrosome NA 0 PE1 -NX_Q2NKX9 18751 166 8.44 2 Nucleus;Nucleus membrane;Nucleolus;Mitochondrion NA 0 PE1 -NX_Q2NL67 71115 630 8.6 15 Cell membrane NA 0 PE2 -NX_Q2NL68 51075 480 6.63 19 Golgi apparatus NA 0 PE1 -NX_Q2NL82 91810 804 6.98 17 Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q2NL98 18348 169 5.44 19 Cytoplasm NA 0 PE1 -NX_Q2PPJ7 210770 1873 5.74 20 Cytoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_Q2PZI1 77319 675 9.13 7 Cytoplasmic vesicle;Membrane NA 11 PE1 -NX_Q2Q1W2 93385 868 7.57 3 Cytoskeleton;Focal adhesion;Cell membrane;P-body NA 0 PE1 -NX_Q2QD12 25023 228 5.21 10 NA NA 0 PE2 -NX_Q2QGD7 89988 858 8.48 3 Nucleus;Cytoplasmic vesicle;Nucleolus NA 0 PE1 -NX_Q2QL34 22116 196 9.92 16 Cytoplasmic vesicle;Peroxisome membrane NA 4 PE1 -NX_Q2T9J0 59309 566 5.82 10 Cytosol;Peroxisome;Centrosome;Nucleoplasm NA 0 PE1 -NX_Q2T9K0 52201 475 8.12 3 Cytosol;Membrane NA 7 PE1 -NX_Q2T9L4 31928 293 4.91 15 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q2TAA2 27599 248 5.13 2 Nucleoplasm NA 0 PE1 -NX_Q2TAA5 55651 492 8.78 13 Endoplasmic reticulum;Endoplasmic reticulum membrane Congenital disorder of glycosylation 1P 2 PE1 -NX_Q2TAA8 76773 658 4.99 16 Cytosol;Nucleus;Perinuclear region NA 0 PE1 -NX_Q2TAC2 103167 916 6.13 17 Microtubule organizing center;Cytoskeleton;Cytosol NA 0 PE1 -NX_Q2TAC6 111332 998 8.87 17 Cytoskeleton;Cilium;Cytoskeleton;Centrosome;Cell membrane NA 0 PE1 -NX_Q2TAK8 78636 710 8.83 19 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q2TAL5 50196 461 8.8 17 NA NA 0 PE1 -NX_Q2TAL6 35282 325 5.29 7 Basement membrane;Synapse NA 0 PE1 -NX_Q2TAL8 86436 776 5.59 3 Nucleoplasm NA 0 PE1 -NX_Q2TAM9 23390 212 11.18 9 Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q2TAP0 18335 167 5.77 10 Golgi apparatus membrane NA 0 PE1 -NX_Q2TAY7 57544 513 6.74 9 Nucleus;Cytoplasmic vesicle;Cytoplasm;Nucleus speckle NA 0 PE1 -NX_Q2TAZ0 212860 1938 5.57 11 Cytoplasmic vesicle;Cytosol;Lipid droplet;Preautophagosomal structure membrane;Nucleus NA 0 PE1 -NX_Q2TB10 75236 664 9.54 7 Cytosol;Nucleus;Nucleolus NA 0 PE1 -NX_Q2TB18 77093 679 8.39 3 Endoplasmic reticulum NA 0 PE1 -NX_Q2TB90 102545 917 6.77 10 Mitochondrion NA 0 PE1 -NX_Q2TBA0 69257 621 5.15 3 Cytoplasm;I band;A band Nemaline myopathy 8 0 PE1 -NX_Q2TBC4 37551 344 5.47 6 Spindle;Microtubule organizing center NA 0 PE2 -NX_Q2TBE0 103787 894 8.78 11 Nucleus speckle;Cytosol NA 0 PE1 -NX_Q2TBF2 63817 565 8.99 12 Nucleoplasm;Membrane NA 1 PE1 -NX_Q2TV78 79694 715 8.16 1 Secreted NA 0 PE1 -NX_Q2UY09 116657 1125 6.1 7 Basement membrane NA 0 PE1 -NX_Q2V2M9 158613 1422 5.7 18 Cytoskeleton;Z line NA 0 PE1 -NX_Q2VIQ3 140035 1234 5.88 5 Nucleus matrix;Cytoskeleton NA 0 PE2 -NX_Q2VIR3 51229 472 8.67 12 NA NA 0 PE5 -NX_Q2VPA4 62714 569 6.95 1 Membrane;Secreted;Cytoplasm NA 0 PE1 -NX_Q2VPB7 93949 878 5.61 11 Nucleus;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 -NX_Q2VPJ9 34740 315 9.42 22 Nucleus;Cytosol NA 0 PE2 -NX_Q2VPK5 56107 515 5.94 16 Cytoplasm NA 0 PE1 -NX_Q2VWA4 104235 1001 6.02 18 Nucleus;Cytoplasm NA 0 PE1 -NX_Q2VWP7 127076 1150 7.37 15 Cytoplasmic vesicle;Cytosol;Membrane;Cell membrane NA 1 PE1 -NX_Q2VY69 69019 593 8.77 19 Nucleus NA 0 PE1 -NX_Q2VYF4 55921 491 9.31 8 Nucleus;Nucleus;Mitochondrion inner membrane;Cytosol NA 1 PE1 -NX_Q2WEN9 45873 425 5.94 19 Secreted Deafness, autosomal dominant, 4B 0 PE1 -NX_Q2WGJ6 65541 581 8.19 8 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q2WGJ8 27046 235 9.88 8 Membrane NA 2 PE1 -NX_Q2WGJ9 209308 1857 5.98 8 Membrane NA 1 PE1 -NX_Q2WGN9 62367 574 7.35 22 NA NA 0 PE2 -NX_Q2Y0W8 122938 1093 6.22 12 Cytoskeleton;Membrane NA 11 PE1 -NX_Q2YD98 80591 709 5.93 4 Nucleoplasm;Chromosome UV-sensitive syndrome 3 0 PE1 -NX_Q30134 30004 266 6.66 6 Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane;Late endosome membrane NA 1 PE1 -NX_Q30154 30056 266 6.45 6 Late endosome membrane;Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane NA 1 PE1 -NX_Q30167 30002 266 7.66 6 trans-Golgi network membrane;Endosome membrane;Lysosome membrane;Cell membrane;Late endosome membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q30201 40108 348 6.12 6 Mitochondrion;Nucleus membrane;Cell membrane Hemochromatosis 1;Microvascular complications of diabetes 7;Variegate porphyria 1 PE1 -NX_Q309B1 40306 348 5.86 17 Cytoplasm NA 0 PE1 -NX_Q30KP8 8755 78 9.18 8 Secreted NA 0 PE3 -NX_Q30KP9 8754 77 9.54 8 Secreted NA 0 PE2 -NX_Q30KQ1 7213 61 9.06 6 Secreted NA 0 PE2 -NX_Q30KQ4 11544 102 8.71 20 Secreted NA 0 PE3 -NX_Q30KQ5 10071 88 8.77 20 Secreted NA 0 PE3 -NX_Q30KQ6 8318 69 7.5 6 Secreted NA 0 PE1 -NX_Q30KQ7 9640 82 9.1 6 Secreted NA 0 PE2 -NX_Q30KQ8 12991 113 8.82 6 Secreted NA 0 PE2 -NX_Q30KQ9 8001 67 9.06 6 Secreted NA 0 PE2 -NX_Q30KR1 9886 87 8.91 8 Secreted NA 0 PE5 -NX_Q31610 40400 362 5.67 6 Membrane NA 1 PE1 -NX_Q31612 40435 363 5.84 6 Membrane NA 1 PE1 -NX_Q32M45 111462 955 8.45 12 Cell membrane NA 8 PE2 -NX_Q32M78 73956 642 8.6 19 Nucleus NA 0 PE1 -NX_Q32M84 58481 506 9.29 10 Cytosol;Nucleolus NA 0 PE1 -NX_Q32M88 80655 737 5.11 11 Cytosol NA 0 PE1 -NX_Q32M92 20262 178 9.34 15 NA NA 0 PE2 -NX_Q32MH5 121670 1076 8.12 15 Nucleoplasm NA 0 PE1 -NX_Q32MK0 88393 819 5.76 16 Cytoplasm NA 0 PE1 -NX_Q32MQ0 77361 723 8.45 17 Nucleus;Nucleolus;Cytoplasmic vesicle;Nucleus Seborrhea-like dermatitis with psoriasiform elements 0 PE1 -NX_Q32MZ4 89253 808 4.59 2 Cytoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q32NB8 62730 556 9.08 17 Mitochondrion;Cytoplasmic vesicle;Cell junction;Cytoskeleton NA 0 PE1 -NX_Q32NC0 24827 220 10.27 18 Nucleolus;Cell membrane NA 0 PE1 -NX_Q32P28 83394 736 5.05 1 Endoplasmic reticulum;Extracellular matrix;Cytoplasmic vesicle;Nucleolus Osteogenesis imperfecta 8 0 PE1 -NX_Q32P41 58246 509 8.78 14 Nucleus;Cytoplasm;Nucleolus;Mitochondrion matrix;Nucleus Combined oxidative phosphorylation deficiency 26 0 PE1 -NX_Q32P44 95197 896 6.69 11 Cytoskeleton NA 0 PE1 -NX_Q32P51 34225 320 9.08 13 Nucleus;Cytoplasm NA 0 PE1 -NX_Q32Q52 21196 190 8.68 12 NA NA 0 PE2 -NX_Q32ZL2 35427 321 6.58 1 Nucleus;Centrosome;Cell membrane;Cell membrane NA 6 PE2 -NX_Q330K2 38176 333 9.44 8 Nucleus;Cytoplasm;Mitochondrion inner membrane Mitochondrial complex I deficiency 0 PE1 -NX_Q33E94 83368 735 6.38 12 Nucleus;Nucleus NA 0 PE1 -NX_Q38SD2 225393 2015 6.25 15 Cytosol;Cytoplasm;Mitochondrion NA 0 PE1 -NX_Q3B726 37432 338 6.53 7 Nucleus;Nucleolus;Nucleolus NA 0 PE1 -NX_Q3B7I2 10960 92 4.92 7 NA NA 0 PE3 -NX_Q3B7J2 42255 385 6.02 16 Cytosol;Nucleoplasm;Extracellular matrix NA 0 PE1 -NX_Q3B7S5 11722 101 10.62 18 Membrane NA 1 PE4 -NX_Q3B7T1 138528 1238 5.93 10 Cytosol;Nucleoplasm;Centrosome;Nucleus NA 0 PE1 -NX_Q3B7T3 28626 259 7.8 16 Nucleoplasm;Centrosome;Membrane Spinocerebellar ataxia 31 1 PE1 -NX_Q3B820 76752 660 8.21 2 Cilium basal body;Cilium Retinitis pigmentosa 28 0 PE1 -NX_Q3B8N2 39660 356 9.6 17 NA NA 0 PE1 -NX_Q3B8N5 65586 592 9.28 14 Nucleus NA 0 PE2 -NX_Q3BBV0 139343 1214 4.72 1 Cytoplasm NA 0 PE2 -NX_Q3BBV1 108576 942 4.68 1 Cytoplasm NA 0 PE2 -NX_Q3BBV2 99215 869 4.6 1 Cytoplasm NA 0 PE5 -NX_Q3BBW0 99594 867 4.76 1 Cytoplasm NA 0 PE2 -NX_Q3C1V0 34465 323 6.27 11 Membrane NA 4 PE2 -NX_Q3C1V1 20547 193 9.42 11 Cytoplasmic vesicle NA 0 PE1 -NX_Q3C1V8 25933 233 6.96 11 Nucleus NA 0 PE2 -NX_Q3C1V9 84939 767 7.76 11 NA NA 0 PE5 -NX_Q3I5F7 22991 207 8.81 14 Cytoplasm NA 0 PE1 -NX_Q3KNS1 86872 767 5.84 10 Membrane NA 8 PE1 -NX_Q3KNS6 50142 432 8.21 19 Nucleus;Nucleus;Nucleus NA 0 PE1 -NX_Q3KNT7 17679 163 5.47 7 NA NA 0 PE5 -NX_Q3KNT9 19597 176 8.98 17 Membrane NA 1 PE2 -NX_Q3KNV8 28115 242 8.54 4 Nucleoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q3KNW1 32474 292 9.45 16 Nucleoplasm;Nucleus NA 0 PE2 -NX_Q3KNW5 41259 377 8.15 4 Membrane NA 9 PE1 -NX_Q3KP22 20078 176 10.11 11 Telomere;Nucleus inner membrane NA 1 PE1 -NX_Q3KP31 66872 576 9.39 19 Nucleus;Nucleus NA 0 PE1 -NX_Q3KP44 68414 614 6.72 5 NA NA 0 PE1 -NX_Q3KP66 72914 663 9.42 1 Nucleus;Cytoplasm NA 0 PE1 -NX_Q3KPI0 32373 293 5.83 19 Membrane NA 1 PE2 -NX_Q3KQU3 92820 841 10.12 1 Cytosol;Spindle;Cytoskeleton NA 0 PE1 -NX_Q3KQV3 71577 632 8.36 19 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q3KQV9 57030 507 5.94 9 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q3KQZ1 32438 300 9.21 17 Mitochondrion;Cytoplasmic vesicle;Mitochondrion inner membrane NA 6 PE1 -NX_Q3KR16 88960 790 6.63 12 Microvillus;Spindle;Spindle pole;Cleavage furrow;Cell membrane NA 0 PE1 -NX_Q3KR37 85400 738 5.84 11 Nucleus;Membrane;Nucleolus;Cytoskeleton NA 1 PE1 -NX_Q3KRA6 14609 126 6.42 2 Endoplasmic reticulum NA 0 PE1 -NX_Q3KRA9 26483 238 8.9 19 Nucleoplasm;Focal adhesion;Cytoplasm;Nucleus NA 0 PE1 -NX_Q3KRB8 30251 267 9.27 15 Cytoplasmic vesicle NA 0 PE2 -NX_Q3L8U1 326022 2897 6.56 16 Cytosol;Cell membrane;Nucleus;Cytoplasm NA 0 PE1 -NX_Q3LFD5 41394 358 8.36 22 NA NA 0 PE2 -NX_Q3LHN0 11738 102 9.01 21 Cell membrane;Cytosol;Nucleus membrane NA 0 PE3 -NX_Q3LHN1 6456 58 7.51 21 NA NA 0 PE3 -NX_Q3LHN2 5737 52 8.48 21 NA NA 0 PE1 -NX_Q3LI54 6918 63 8.91 21 NA NA 0 PE3 -NX_Q3LI58 7937 79 8.15 21 NA NA 0 PE2 -NX_Q3LI59 8564 83 8.4 21 NA NA 0 PE3 -NX_Q3LI60 4909 44 7.61 21 NA NA 0 PE3 -NX_Q3LI61 6961 65 8.63 21 NA NA 0 PE3 -NX_Q3LI62 4623 44 9.06 21 NA NA 0 PE3 -NX_Q3LI63 6202 56 8.24 21 NA NA 0 PE3 -NX_Q3LI64 7279 71 8.36 21 NA NA 0 PE1 -NX_Q3LI66 6654 62 6.65 21 NA NA 0 PE1 -NX_Q3LI67 10409 103 7.35 21 NA NA 0 PE3 -NX_Q3LI68 5218 45 8.39 21 NA NA 0 PE3 -NX_Q3LI70 6267 58 8.97 21 NA NA 0 PE1 -NX_Q3LI72 7624 72 8.32 21 NA NA 0 PE1 -NX_Q3LI73 9106 84 8.93 21 NA NA 0 PE3 -NX_Q3LI76 14979 137 8.15 21 NA NA 0 PE1 -NX_Q3LI77 17755 160 9.08 21 NA NA 0 PE1 -NX_Q3LI81 22345 207 5.45 21 NA NA 0 PE2 -NX_Q3LI83 27719 254 8.71 21 NA NA 0 PE1 -NX_Q3LIE5 39529 342 5.31 17 NA NA 0 PE1 -NX_Q3LXA3 58947 575 7.12 11 Cytosol;Nucleus NA 0 PE1 -NX_Q3MHD2 21701 195 7.62 17 Cytoplasm;Cytosol NA 0 PE1 -NX_Q3MII6 76327 688 5.75 X Cytoplasm;Autophagosome NA 0 PE1 -NX_Q3MIN7 78079 710 7.6 19 Cytosol;Nucleus NA 0 PE1 -NX_Q3MIP1 58446 535 9.58 16 Membrane;Centrosome NA 1 PE1 -NX_Q3MIR4 38941 351 8.06 14 Cell membrane NA 2 PE1 -NX_Q3MIS6 72138 628 9.37 19 Nucleus NA 0 PE1 -NX_Q3MIT2 60244 529 6.1 2 Nucleoplasm;Nucleus;Mitochondrion NA 0 PE1 -NX_Q3MIV0 5275 48 6.48 21 NA NA 0 PE3 -NX_Q3MIW9 56347 517 9.01 6 Membrane NA 1 PE1 -NX_Q3MIX3 65897 580 9.13 8 Cytosol;Membrane;Cell membrane NA 1 PE1 -NX_Q3MJ13 123425 1102 6.22 15 Cytoplasmic vesicle;Cytoplasmic vesicle Amelogenesis imperfecta, hypomaturation type, 2A3 0 PE1 -NX_Q3MJ16 97570 856 5.66 15 Cytosol;Lysosome membrane NA 0 PE1 -NX_Q3MJ40 82951 725 4.93 17 NA NA 0 PE2 -NX_Q3MJ62 44955 389 5.91 6 Nucleus NA 0 PE1 -NX_Q3MUY2 8058 71 6.69 4 Endoplasmic reticulum membrane Hyperphosphatasia with mental retardation syndrome 6 2 PE1 -NX_Q3SX64 30781 289 10 19 NA NA 0 PE1 -NX_Q3SXM0 44264 396 8.65 4 NA NA 0 PE1 -NX_Q3SXM5 37002 330 8.93 16 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q3SXP7 22573 199 8.95 22 Cytosol;Membrane;Cytoplasmic vesicle NA 1 PE2 -NX_Q3SXR2 16908 165 8.66 3 NA NA 0 PE2 -NX_Q3SXY7 74754 679 5.46 4 Dendrite;Nucleoplasm;Mitochondrion;Cytosol;Perikaryon;Endoplasmic reticulum membrane Night blindness, congenital stationary, 1F 1 PE1 -NX_Q3SXY8 48643 428 6.2 3 Cilium membrane;Cilium;Cytosol;Cytoskeleton Joubert syndrome 8 0 PE1 -NX_Q3SXZ3 55404 478 9.55 4 Nucleus NA 0 PE1 -NX_Q3SXZ7 51472 439 8.96 20 Cilium basal body;Cytoskeleton;Nucleoplasm;Cytoskeleton NA 0 PE2 -NX_Q3SY00 62381 556 10.08 11 NA NA 0 PE1 -NX_Q3SY05 14562 128 9.74 1 NA NA 0 PE5 -NX_Q3SY17 33721 297 9.69 18 Mitochondrion inner membrane NA 6 PE2 -NX_Q3SY46 19236 172 8.78 21 NA NA 0 PE1 -NX_Q3SY52 54786 487 9.1 19 Nucleus;Cytoskeleton NA 0 PE1 -NX_Q3SY56 39840 376 6.81 17 Nucleoplasm;Nucleus;Spindle;Centrosome NA 0 PE1 -NX_Q3SY69 101746 923 6.13 12 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q3SY77 59547 523 8.51 5 Membrane;Nucleus;Cytosol NA 1 PE1 -NX_Q3SY84 57292 523 6.27 12 Cytoskeleton Hypotrichosis 13 0 PE1 -NX_Q3SY89 59760 546 9.83 18 Nucleus NA 0 PE2 -NX_Q3SYA9 45448 428 9.17 22 NA NA 0 PE5 -NX_Q3SYB3 45787 417 9.76 9 Nucleus NA 0 PE1 -NX_Q3SYC2 38196 334 9.47 11 Endoplasmic reticulum membrane NA 3 PE1 -NX_Q3SYF9 6644 63 8.49 21 NA NA 0 PE1 -NX_Q3SYG4 99280 887 5.35 7 Centriolar satellite;Cytoplasm;Cilium membrane;Centrosome Bardet-Biedl syndrome 9 0 PE1 -NX_Q3T8J9 248620 2241 4.94 1 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q3T906 143622 1256 6.74 12 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus membrane Mucolipidosis type III complementation group A;Mucolipidosis type II 2 PE1 -NX_Q3V5L5 89535 792 8.68 17 Spindle;Nucleoplasm;Golgi apparatus membrane NA 1 PE1 -NX_Q3V6T2 216042 1871 5.9 2 Lamellipodium;Cilium basal body;Centriole;Membrane;Cytoplasmic vesicle;Cell membrane;Cytosol PEHO-like syndrome 0 PE1 -NX_Q3Y452 10472 100 6.81 6 Cytoplasm NA 0 PE1 -NX_Q3YBM2 29056 270 8.81 7 Cell membrane;Nucleus membrane;Nucleoplasm;Golgi apparatus NA 4 PE1 -NX_Q3YBR2 44946 411 8.73 11 Nucleus;Nucleus NA 0 PE1 -NX_Q3YEC7 79549 729 5.11 9 Centrosome;Cytoplasm;Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_Q3ZAQ7 11354 101 6.56 X Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane;COPII-coated vesicle membrane Myopathy, X-linked, with excessive autophagy 2 PE1 -NX_Q3ZCM7 49776 444 4.79 10 Cytoskeleton;Spindle Oocyte maturation defect 2 0 PE1 -NX_Q3ZCN5 262091 2332 5.01 12 Cytosol;Secreted Deafness, autosomal recessive, 84B 0 PE1 -NX_Q3ZCQ2 21682 193 4.88 5 Nucleoplasm;Cytosol;Cytosol NA 0 PE1 -NX_Q3ZCQ3 16967 159 8.88 15 Membrane;Cytoskeleton NA 1 PE1 -NX_Q3ZCQ8 39646 353 8.55 19 Mitochondrion inner membrane;Nucleus speckle;Mitochondrion;Nucleoplasm NA 1 PE1 -NX_Q3ZCT1 47222 412 9.28 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 -NX_Q3ZCT8 71096 623 5.65 3 NA NA 0 PE2 -NX_Q3ZCU0 29382 254 9.76 11 Endoplasmic reticulum;Nucleoplasm;Centrosome NA 0 PE5 -NX_Q3ZCV2 47609 418 9.84 1 Mitochondrion NA 0 PE1 -NX_Q3ZCW2 18986 172 5.12 2 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q3ZCX4 74369 644 8.58 19 Nucleus NA 0 PE1 -NX_Q3ZLR7 89431 823 9 X NA NA 0 PE2 -NX_Q400G9 54924 498 5.64 7 NA NA 0 PE1 -NX_Q401N2 45816 412 8.45 17 Cell membrane NA 4 PE1 -NX_Q460N3 74576 678 9.02 3 Nucleus;Mitochondrion NA 0 PE1 -NX_Q460N5 202800 1801 6.81 3 Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q494R0 13218 122 9.41 16 NA NA 0 PE5 -NX_Q494R4 23858 210 9.34 11 Cytosol NA 0 PE1 -NX_Q494U1 71790 663 8.8 1 Cytoskeleton;Nucleus speckle;Cell membrane NA 0 PE1 -NX_Q494V2 71117 611 6.65 3 Cilium axoneme NA 0 PE1 -NX_Q494W8 46218 412 6.11 15 Membrane NA 5 PE2 -NX_Q494X1 16640 144 8.93 5 NA NA 0 PE1 -NX_Q494X3 65425 552 9.32 19 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q495A1 26319 244 5.5 3 Cell membrane NA 1 PE1 -NX_Q495B1 57550 522 6.22 15 Nucleoplasm NA 0 PE2 -NX_Q495C1 33365 297 9.04 4 Nucleus;Chromosome NA 0 PE2 -NX_Q495D7 15996 138 9.11 12 NA NA 0 PE2 -NX_Q495M3 53216 483 8.4 5 Cell membrane;Cytoplasm Hyperglycinuria;Iminoglycinuria 11 PE1 -NX_Q495M9 51489 461 6.48 17 Cell membrane;Cytoskeleton;Cytosol Usher syndrome 1G 0 PE1 -NX_Q495N2 51735 470 5.91 5 Membrane NA 11 PE2 -NX_Q495T6 89367 779 5.64 1 Membrane;Secreted NA 1 PE1 -NX_Q495W5 55816 492 5.59 10 Golgi stack membrane;Nucleus membrane;Golgi apparatus NA 1 PE1 -NX_Q495X7 55114 471 8.68 4 NA NA 0 PE2 -NX_Q495Y7 25253 208 8.71 7 NA NA 0 PE5 -NX_Q495Y8 48300 402 9.78 7 NA NA 0 PE1 -NX_Q495Z4 20099 193 11.93 17 NA NA 0 PE5 -NX_Q496A3 33705 300 7.08 6 Nucleoplasm NA 0 PE1 -NX_Q496F6 22918 205 8.22 17 Cell membrane NA 1 PE1 -NX_Q496H8 17786 165 8.35 16 Cell membrane NA 0 PE1 -NX_Q496J9 82342 727 4.92 5 Nucleoplasm;Cytoplasmic vesicle;Synaptic vesicle membrane NA 12 PE1 -NX_Q496M5 36329 336 5.99 19 Cytoplasm;Nucleolus NA 0 PE1 -NX_Q496Y0 84490 759 7 X Nucleus;Cell membrane NA 0 PE1 -NX_Q499Y3 20452 187 7.62 10 NA NA 0 PE2 -NX_Q499Z3 45603 407 5.61 1 Cytosol NA 0 PE1 -NX_Q499Z4 50224 452 10.01 1 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q49A17 69788 601 7.11 4 Golgi apparatus membrane NA 1 PE2 -NX_Q49A26 60556 553 9.26 16 Nucleus speckle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q49A33 23384 203 9.13 4 Nucleus NA 0 PE5 -NX_Q49A88 106302 953 8.65 3 Centrosome;Centriolar satellite NA 0 PE1 -NX_Q49A92 50489 452 4.95 8 Nucleus;Nucleolus;Golgi apparatus NA 0 PE2 -NX_Q49AA0 61181 526 8.78 1 Nucleus;Nucleus NA 0 PE1 -NX_Q49AG3 78911 693 8.57 11 Golgi apparatus;Nucleolus;Nucleus NA 0 PE1 -NX_Q49AH0 20964 187 7.5 10 Secreted NA 0 PE1 -NX_Q49AJ0 155770 1406 5.53 8 Nucleoplasm;Nucleus membrane NA 0 PE1 -NX_Q49AM1 44414 385 9.15 12 Mitochondrion;Mitochondrion nucleoid NA 0 PE1 -NX_Q49AM3 57105 519 8.52 2 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q49AN0 66947 593 8.66 11 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 -NX_Q49AR2 49967 442 4.65 5 Nucleus membrane NA 0 PE1 -NX_Q49AS3 12596 106 10.02 9 NA NA 0 PE5 -NX_Q49B96 10394 90 8.95 7 Cytosol;Cytosol NA 0 PE1 -NX_Q49MG5 74234 647 7.59 4 Cytoplasm;Cytoskeleton;Spindle NA 0 PE1 -NX_Q49MI3 62622 558 8.57 2 Nucleoplasm;Endoplasmic reticulum;trans-Golgi network;Cytosol;Nucleolus;Cytoplasm Retinitis pigmentosa 26 0 PE1 -NX_Q49SQ1 38232 333 9.57 14 Cell membrane NA 7 PE2 -NX_Q4AC94 260389 2353 6.7 11 Microtubule organizing center;Nucleus;Cilium basal body;Centriole Orofaciodigital syndrome 14 0 PE1 -NX_Q4AC99 65249 568 6.05 11 NA NA 0 PE1 -NX_Q4ADV7 159301 1423 5.95 9 Cytosol;Membrane NA 1 PE1 -NX_Q4AE62 52597 458 6.83 2 Cytosol NA 0 PE1 -NX_Q4FZB7 99187 885 8.98 11 Nucleus;Nucleus;Chromosome NA 0 PE1 -NX_Q4G0A6 84372 757 6.47 7 Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_Q4G0F5 39155 336 6.85 11 Cytoplasm;Membrane;Early endosome;Late endosome NA 0 PE1 -NX_Q4G0G2 11005 97 6.8 3 NA NA 0 PE5 -NX_Q4G0G5 10563 96 4.57 19 Secreted NA 0 PE3 -NX_Q4G0I0 15004 132 6.51 16 Membrane NA 1 PE1 -NX_Q4G0J3 66899 582 9.57 4 Cytosol;Nucleoplasm;Nucleoplasm Alazami syndrome 0 PE1 -NX_Q4G0M1 37279 354 9.88 2 Microtubule organizing center;Endoplasmic reticulum;Secreted NA 0 PE2 -NX_Q4G0N0 11568 100 5.61 9 Golgi stack membrane NA 1 PE1 -NX_Q4G0N4 49433 442 8.46 5 Mitochondrion 2,4-dienoyl-CoA reductase deficiency 0 PE1 -NX_Q4G0N7 8717 80 9.02 6 Nucleolus;Golgi apparatus;Nucleus NA 0 PE2 -NX_Q4G0N8 135206 1177 6.72 3 Flagellum membrane NA 16 PE1 -NX_Q4G0P3 575892 5121 5.73 16 Cilium;Cell membrane;Cytosol Ciliary dyskinesia, primary, 5 0 PE1 -NX_Q4G0S4 42632 372 9.31 2 Membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q4G0S7 29979 254 9.11 5 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q4G0T1 108611 1027 5.76 10 Membrane NA 1 PE1 -NX_Q4G0U5 96891 840 8.79 2 Cilium axoneme;Cytoplasm NA 0 PE1 -NX_Q4G0W2 18324 176 8.61 2 Nucleus speckle;Cytosol NA 0 PE1 -NX_Q4G0X4 29643 260 6.09 11 Cytosol NA 0 PE1 -NX_Q4G0X9 130113 1142 5.21 17 Cytoplasm;Cilium;Cytoskeleton Ciliary dyskinesia, primary, 15 0 PE1 -NX_Q4G0Z9 76219 681 6.79 8 Cytoskeleton NA 0 PE1 -NX_Q4G112 65278 596 6.78 17 Nucleus NA 0 PE1 -NX_Q4G148 50567 440 8.92 12 Membrane NA 1 PE1 -NX_Q4G163 78402 708 8.4 8 NA NA 0 PE1 -NX_Q4G176 64130 576 8.64 16 Mitochondrion Combined malonic and methylmalonic aciduria 0 PE1 -NX_Q4G1C9 40179 344 4.88 12 Membrane NA 1 PE1 -NX_Q4J6C6 83927 727 5.96 2 Cytoplasm;Cytosol Myasthenic syndrome, congenital, 22;Hypotonia-cystinuria syndrome 0 PE1 -NX_Q4JDL3 48423 420 5.54 10 Nucleus;Microtubule organizing center;Cytoplasm;Centrosome NA 0 PE1 -NX_Q4KMG0 139147 1287 6.04 11 Cell membrane Holoprosencephaly 11 1 PE1 -NX_Q4KMG9 20002 183 5.39 12 Focal adhesion;Membrane NA 1 PE2 -NX_Q4KMP7 87199 808 9.27 16 Cytoplasm NA 0 PE1 -NX_Q4KMQ1 75556 711 6.82 9 Cell membrane;Stereocilium Deafness, autosomal recessive, 79 0 PE1 -NX_Q4KMQ2 106165 910 7.92 12 Cell membrane;Cell membrane;Cytosol Scott syndrome 8 PE1 -NX_Q4KMX7 18795 169 5.78 17 NA NA 0 PE2 -NX_Q4KMZ1 53032 466 8.22 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q4KMZ8 23552 207 5.21 1 Cell membrane NA 3 PE2 -NX_Q4KN68 19514 170 6.23 20 NA NA 0 PE2 -NX_Q4KWH8 189223 1693 7.87 3 Membrane;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q4L180 130382 1135 6.17 3 Cytoplasm;Nucleus;Membrane;Cell membrane NA 0 PE1 -NX_Q4L235 122597 1098 6.9 4 NA NA 0 PE1 -NX_Q4LDE5 390170 3571 5.32 9 Secreted;Cytoplasm;Membrane NA 0 PE1 -NX_Q4LDG9 21533 190 5.87 14 Nucleus;Microtubule organizing center;Cilium axoneme Ciliary dyskinesia, primary, 16 0 PE1 -NX_Q4LDR2 8933 81 4.56 5 Membrane NA 1 PE1 -NX_Q4LE39 147809 1312 5.04 1 Nucleoplasm;Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q4LEZ3 17575 155 5.81 8 Lipid droplet NA 0 PE1 -NX_Q4QY38 7552 66 6.52 8 Secreted NA 0 PE2 -NX_Q4U2R6 15095 128 11.27 12 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q4U2R8 61816 563 9.05 11 Cell membrane NA 12 PE1 -NX_Q4UJ75 94149 823 8.11 9 NA NA 0 PE4 -NX_Q4V321 12873 117 4.26 X NA NA 0 PE3 -NX_Q4V326 12763 116 4.32 X NA NA 0 PE3 -NX_Q4V328 95990 841 5.08 X Synapse;Early endosome membrane;Recycling endosome membrane;Axon;Dendrite;Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_Q4V339 43964 395 4.76 9 NA NA 0 PE3 -NX_Q4V348 94331 819 8.9 9 Nucleus NA 0 PE2 -NX_Q4V9L6 29203 283 4.5 12 Cell membrane;Cytoplasm;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q4VC05 22810 210 5.01 12 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q4VC12 51289 460 6.49 10 Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_Q4VC31 16620 144 7.67 3 Nucleolus;Mitochondrion NA 0 PE1 -NX_Q4VC39 11405 106 8.55 15 Membrane NA 2 PE5 -NX_Q4VC44 80108 716 8.68 16 Cytosol;Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q4VCS5 118085 1084 7.27 X Tight junction NA 0 PE1 -NX_Q4VNC0 137327 1218 8.19 3 Membrane NA 10 PE2 -NX_Q4VNC1 133987 1196 6.27 3 Membrane;Nucleoplasm NA 11 PE1 -NX_Q4VX62 22766 202 8.57 6 NA NA 0 PE4 -NX_Q4VX76 68560 610 9.41 6 Nucleolus;Endomembrane system;Cytoplasmic vesicle NA 0 PE1 -NX_Q4VXA5 27160 237 8.58 6 Cytosol;Membrane;Mitochondrion NA 2 PE2 -NX_Q4VXF1 18188 159 9.41 9 Membrane NA 1 PE5 -NX_Q4VXU2 68392 614 9.06 20 Cytosol;Nucleus NA 0 PE1 -NX_Q4W4Y0 36306 310 6.18 14 Cytosol NA 0 PE2 -NX_Q4W5G0 59623 525 9.12 4 Nucleus;Nucleus NA 0 PE1 -NX_Q4W5N1 17479 156 9.43 4 NA NA 0 PE2 -NX_Q4W5P6 14221 130 10.29 4 Secreted NA 0 PE2 -NX_Q4ZG55 216467 1949 6.49 2 Cytosol;Mitochondrion;Membrane NA 1 PE1 -NX_Q4ZHG4 205558 1894 9.35 6 Nucleus speckle;Secreted NA 0 PE1 -NX_Q4ZIN3 67889 620 5.14 19 Nucleus speckle;Endoplasmic reticulum;Endoplasmic reticulum membrane NA 4 PE1 -NX_Q4ZJI4 56054 515 8.27 4 Flagellum membrane NA 13 PE1 -NX_Q502W6 145748 1294 7.01 2 Cytoplasm;Nucleus Spinocerebellar ataxia, autosomal recessive, 22 0 PE1 -NX_Q502W7 65315 563 8.81 12 Centrosome;Nucleus;Nucleolus NA 0 PE1 -NX_Q502X0 8939 79 5.4 2 Nucleus;Acrosome;Nucleoplasm NA 0 PE1 -NX_Q504Q3 135368 1202 5.64 12 Cytoplasm;Nucleus;P-body NA 0 PE1 -NX_Q504T8 49213 468 9.67 19 Nucleolus;Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q504U0 11899 113 4.24 4 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q504Y0 76666 691 5.85 10 Membrane NA 8 PE1 -NX_Q504Y2 54132 493 8.76 2 Golgi apparatus;Secreted NA 0 PE1 -NX_Q504Y3 41376 356 5.56 3 Nucleus speckle NA 0 PE1 -NX_Q50LG9 55257 513 9.24 8 Membrane;Cytoplasmic vesicle NA 1 PE2 -NX_Q52LA3 13001 116 4.89 14 Nucleus speckle NA 0 PE1 -NX_Q52LC2 25310 224 9.6 5 Membrane;Nucleolus;Cytosol NA 1 PE2 -NX_Q52LD8 55922 501 5.56 2 Cell membrane NA 0 PE1 -NX_Q52LG2 18727 175 8.72 21 NA NA 0 PE1 -NX_Q52LJ0 37191 330 5.96 15 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q52LR7 91095 807 8.95 2 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q52LW3 142064 1261 6.32 1 Cytosol;Nucleus;Cell membrane;Centrosome NA 0 PE1 -NX_Q52M58 13861 125 9.23 14 NA NA 0 PE2 -NX_Q52M75 10857 96 9.96 5 NA NA 0 PE4 -NX_Q52M93 88066 769 9.26 19 Nucleus NA 0 PE1 -NX_Q52MB2 20484 194 4.04 12 Cytoplasm;Mitochondrion;Cytosol NA 0 PE1 -NX_Q52WX2 46252 424 9.28 16 Cytoplasm NA 0 PE1 -NX_Q537H7 11356 98 10.08 1 NA NA 0 PE1 -NX_Q538Z0 6437 58 9.7 7 Lipid droplet NA 0 PE2 -NX_Q53EL6 51735 469 5.07 10 Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q53EL9 107425 994 5.16 17 Cytoskeleton;Cell membrane NA 1 PE1 -NX_Q53EP0 132888 1204 5.64 3 Endoplasmic reticulum;Membrane NA 1 PE1 -NX_Q53EQ6 69222 642 8.68 8 Nucleus NA 0 PE1 -NX_Q53ET0 73302 693 6.6 1 Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q53EU6 48705 434 9.05 4 Cell membrane;Endoplasmic reticulum membrane;Cytosol NA 3 PE1 -NX_Q53EV4 39761 343 4.57 12 Nucleolus NA 0 PE1 -NX_Q53EZ4 54178 464 6.55 10 Cell membrane;Cleavage furrow;Midbody ring;Centriole;Cytoplasm;Microtubule organizing center;Centrosome Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 0 PE1 -NX_Q53F19 70593 620 5.55 17 Cytoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q53F39 45141 396 6.71 18 Nucleoplasm;Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment membrane;cis-Golgi network membrane NA 2 PE1 -NX_Q53FA7 35536 332 6.66 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q53FD0 51658 456 9.58 14 Cytoplasm;Mitochondrion;Nucleus speckle NA 0 PE1 -NX_Q53FE4 39644 359 9.4 4 NA NA 0 PE1 -NX_Q53FP2 18440 167 10.09 X Peroxisome membrane;Cytoplasmic vesicle NA 4 PE1 -NX_Q53FT3 21628 197 5.27 11 Cytosol;Nucleus Leukodystrophy, hypomyelinating, 13 0 PE1 -NX_Q53FV1 17363 153 9.64 12 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q53FZ2 66153 586 9.16 16 Mitochondrion matrix NA 0 PE1 -NX_Q53G44 51322 452 6.33 1 Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q53G59 63277 568 5.26 1 Cytoplasmic vesicle;Microtubule organizing center;COPII-coated vesicle NA 0 PE1 -NX_Q53GA4 17092 152 9.3 11 Cytoplasm;Membrane;Nucleolus NA 0 PE1 -NX_Q53GD3 79254 710 8.91 6 Apical cell membrane;Membrane Deafness, autosomal dominant, 72 10 PE1 -NX_Q53GG5 39232 364 6.42 4 Cytosol;Z line NA 0 PE1 -NX_Q53GI3 64256 561 8.14 7 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q53GL0 46237 409 8.93 1 Mitochondrion;Cell membrane;Nucleus;Cytoplasm NA 0 PE1 -NX_Q53GL7 109998 1025 4.9 8 Nucleolus;Cytosol;Nucleolus;Cytoplasm NA 0 PE1 -NX_Q53GQ0 34324 312 9.34 11 Endoplasmic reticulum membrane NA 3 PE1 -NX_Q53GS7 79836 698 7.06 9 Nucleus;Nucleus membrane;Nucleolus;Nuclear pore complex;Cytoplasm Lethal arthrogryposis with anterior horn cell disease;Lethal congenital contracture syndrome 1 0 PE1 -NX_Q53GS9 65381 565 9.02 2 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q53GT1 71667 634 5.28 22 Spindle;Cytoplasm;Centrosome NA 0 PE1 -NX_Q53H12 47137 422 8.3 7 Mitochondrion;Mitochondrion inner membrane;Mitochondrion intermembrane space;Cytoplasmic vesicle Cataract 38;Mitochondrial DNA depletion syndrome 10 0 PE1 -NX_Q53H47 78034 684 6.75 3 Nucleolus;Nucleus;Chromosome NA 0 PE1 -NX_Q53H54 50236 448 8.21 8 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q53H64 17042 154 9.65 17 NA NA 0 PE5 -NX_Q53H76 49715 456 7.11 3 Nucleus speckle;Secreted NA 0 PE1 -NX_Q53H80 22496 203 8.96 6 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q53H82 32806 288 6.32 8 Cytosol;Golgi apparatus;Nucleus;Mitochondrion matrix NA 0 PE1 -NX_Q53H96 28663 274 7.66 8 Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q53HC0 36961 331 8.96 12 Centriole;Centrosome;Nucleoplasm NA 0 PE1 -NX_Q53HC5 68139 615 6.04 19 NA NA 0 PE1 -NX_Q53HC9 43603 387 4.87 2 Nucleolus;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q53HI1 30373 259 9.5 2 Endoplasmic reticulum;Nucleus inner membrane;Golgi apparatus membrane NA 5 PE1 -NX_Q53HL2 31323 280 9.88 1 Centromere;Spindle;Cytoplasm;Nucleolus;Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q53HV7 29862 270 6.18 12 Centrosome;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q53LP3 55672 525 6.55 2 Cytosol NA 0 PE1 -NX_Q53QV2 12217 105 4.33 2 Cytoplasm;Cytoplasmic vesicle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q53QW1 41589 395 4.97 2 Cytoplasm NA 0 PE1 -NX_Q53QZ3 54544 475 9.42 2 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus;Membrane NA 0 PE1 -NX_Q53R12 25075 229 6.4 2 Focal adhesion;Cell membrane;Membrane;Endoplasmic reticulum membrane Specific language impairment 5 4 PE1 -NX_Q53R41 97411 847 7.8 2 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q53RD9 47376 439 7.88 2 Extracellular matrix;Cell membrane;Cell junction NA 0 PE1 -NX_Q53RE8 19651 183 6.39 2 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q53RT3 36991 343 5.28 2 Membrane NA 1 PE1 -NX_Q53RY4 25627 240 8.12 2 Nucleus;Cytosol;Membrane NA 4 PE1 -NX_Q53S33 12114 107 9.66 2 Mitochondrion Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 0 PE1 -NX_Q53S58 33760 311 9.66 2 Nucleus;Nucleolus;Membrane NA 3 PE1 -NX_Q53S99 16373 150 6.18 2 Endoplasmic reticulum NA 0 PE2 -NX_Q53SF7 131787 1204 6.22 2 Cytosol;Cell membrane;Nucleus NA 0 PE1 -NX_Q53SZ7 44690 412 10.39 2 NA NA 0 PE1 -NX_Q53T59 42780 392 4.89 2 Nucleolus;Cytosol NA 0 PE1 -NX_Q53T94 68832 588 8.27 2 Nucleolus;Nucleus;Nucleolus NA 0 PE1 -NX_Q53TN4 31641 286 8.89 2 Cytosol;Golgi apparatus;Membrane NA 6 PE1 -NX_Q53TQ3 98174 878 8.48 2 Nucleus NA 0 PE1 -NX_Q53TS8 71159 623 6.55 2 NA NA 0 PE1 -NX_Q562E7 211697 1941 5.37 17 Early endosome membrane;Late endosome membrane;Lysosome membrane;Autophagosome membrane;Mitochondrion;Cytosol;Nucleoplasm Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 0 PE1 -NX_Q562F6 144739 1265 8.09 2 Nucleus;Nucleus;Centromere;Kinetochore;Nucleoplasm NA 0 PE1 -NX_Q562R1 42003 376 5.39 5 Cytoskeleton NA 0 PE1 -NX_Q567U6 73198 631 8.24 2 Cell membrane;Cytoplasmic vesicle;Early endosome NA 0 PE1 -NX_Q567V2 23180 206 9.41 19 Membrane;Mitochondrion inner membrane;Cytosol;Cell membrane NA 3 PE1 -NX_Q569G3 19206 176 10.49 5 NA NA 0 PE1 -NX_Q569H4 32812 304 9.09 5 Nucleus;Midbody;Cytosol NA 0 PE1 -NX_Q569K4 50407 471 9.92 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q569K6 83941 752 6.76 22 NA NA 0 PE1 -NX_Q56A73 28660 249 7.13 X Cytosol;Nucleolus NA 0 PE1 -NX_Q56NI9 68307 601 9.46 8 Nucleus;Chromosome;Golgi apparatus;Nucleus SC phocomelia syndrome;Roberts syndrome 0 PE1 -NX_Q56P03 32762 285 5 14 Cytosol;Nucleus;Golgi apparatus;Cytoplasm;Nucleus NA 0 PE1 -NX_Q56P42 10795 97 5.21 3 Nucleus;Cytoplasm NA 0 PE1 -NX_Q56UN5 150537 1328 6.61 2 Cytosol NA 0 PE1 -NX_Q56UQ5 15757 140 5.81 X NA NA 0 PE2 -NX_Q56VL3 16954 154 9.24 4 Endosome;Mitochondrion NA 0 PE1 -NX_Q580R0 21517 203 5.13 2 Cytoplasm;Nucleolus NA 0 PE2 -NX_Q587I9 21790 215 9.96 2 Membrane NA 4 PE1 -NX_Q587J7 132578 1177 6.3 19 NA NA 0 PE1 -NX_Q587J8 24306 217 9.47 6 NA Hydatidiform mole, recurrent, 2 0 PE1 -NX_Q58A44 10968 107 10.45 13 Cytoplasm NA 0 PE1 -NX_Q58A45 95613 887 8.8 13 P-body NA 0 PE1 -NX_Q58DX5 88682 795 5.78 3 Membrane NA 1 PE1 -NX_Q58EX2 239396 2172 6.62 17 Nucleoplasm;Cell membrane;Synapse NA 1 PE1 -NX_Q58EX7 130803 1191 5.43 16 Cell junction NA 0 PE1 -NX_Q58F21 107954 947 9.05 1 Nucleus Spermatogenic failure 21 0 PE1 -NX_Q58FF3 45859 399 5.14 15 NA NA 0 PE5 -NX_Q58FF6 58264 505 4.65 15 Cytoplasm NA 0 PE5 -NX_Q58FF7 68325 597 4.71 4 Cytoplasm NA 0 PE5 -NX_Q58FF8 44349 381 4.79 4 Cytoplasm NA 0 PE1 -NX_Q58FG0 38738 334 6.15 3 Cytoplasm NA 0 PE1 -NX_Q58FG1 47712 418 5.07 4 Cytoplasm NA 0 PE5 -NX_Q58G82 21436 188 9.56 4 NA NA 0 PE5 -NX_Q58HT5 37759 328 9.06 X Endoplasmic reticulum membrane NA 2 PE1 -NX_Q58WW2 96292 860 5.14 1 Focal adhesion;Nucleus;Nucleus NA 0 PE1 -NX_Q59EK9 49747 446 5.19 17 Cytoplasmic vesicle NA 0 PE1 -NX_Q59GN2 6323 51 12.32 3 NA NA 0 PE5 -NX_Q59H18 92851 835 6.27 1 Nucleus;Cytoplasm Cardiac conduction disease with or without dilated cardiomyopathy 0 PE1 -NX_Q5BIV9 14522 151 11.36 10 Cell membrane NA 0 PE2 -NX_Q5BJD5 32513 291 9.6 11 Peroxisome;Membrane NA 6 PE1 -NX_Q5BJE1 102011 867 6.34 18 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q5BJF2 20848 176 9.42 17 Cytosol;Nucleus membrane;Nucleus membrane;Rough endoplasmic reticulum membrane;Cell membrane NA 4 PE1 -NX_Q5BJF6 95401 829 7.53 9 Spindle pole;Centriole;Centrosome;Centrosome;Cilium NA 0 PE1 -NX_Q5BJH2 18822 165 6.27 4 Membrane NA 4 PE1 -NX_Q5BJH7 34435 314 9.21 19 Membrane;Golgi apparatus;Cytoplasmic vesicle NA 5 PE1 -NX_Q5BKT4 55606 473 9.4 12 Endoplasmic reticulum membrane NA 12 PE2 -NX_Q5BKU9 15855 147 8.57 17 Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_Q5BKX5 37779 351 7.13 19 NA NA 0 PE1 -NX_Q5BKX6 83878 768 5.33 8 Cell membrane;Membrane NA 12 PE1 -NX_Q5BKX8 41899 364 8.29 9 Cell membrane;Caveola;Sarcolemma;Cytosol;Cytoplasm;Sarcomere NA 0 PE1 -NX_Q5BKY1 31642 277 8.79 12 Nucleus NA 0 PE1 -NX_Q5BKY6 10947 102 7.82 22 NA NA 0 PE1 -NX_Q5BKY9 28385 247 10.02 7 Nucleus NA 0 PE1 -NX_Q5BKZ1 65654 582 5.08 1 Nucleoplasm;Nucleus matrix;Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q5BLP8 10170 95 8.69 4 Secreted;Cytosol NA 0 PE1 -NX_Q5BN46 15260 136 9.06 9 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q5BVD1 24295 217 4.02 3 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q5C9Z4 96257 860 8.28 7 Nucleolus;Nucleolus NA 0 PE1 -NX_Q5CZ79 93909 823 8.55 2 NA NA 0 PE2 -NX_Q5CZA5 71143 627 7.83 19 Nucleus NA 0 PE1 -NX_Q5CZC0 780607 6907 6.27 2 Mitochondrion;Cytoskeleton NA 0 PE1 -NX_Q5D0E6 59363 543 7.07 3 Nucleus;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q5D1E8 65699 599 6.5 1 Nucleoplasm;Nucleus;Cytoplasmic granule;Cytoplasm;P-body;Cytosol;Rough endoplasmic reticulum membrane NA 0 PE1 -NX_Q5D862 248073 2391 8.45 1 Cytoplasm;Cytoplasmic granule NA 0 PE1 -NX_Q5DID0 144294 1318 5.75 21 Cell membrane;Cytoplasm NA 1 PE2 -NX_Q5DJT8 21363 189 9.67 X NA NA 0 PE2 -NX_Q5DT21 9756 86 9.17 5 Secreted NA 0 PE1 -NX_Q5DX21 46120 431 6.63 3 Cell junction;Nucleus;Cytosol;Cell membrane NA 1 PE1 -NX_Q5EB52 38830 335 9.75 7 Golgi apparatus;Cytosol;Endoplasmic reticulum membrane NA 3 PE1 -NX_Q5EBL2 110887 1059 8.69 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5EBL4 47108 403 5.13 12 Cytosol;Nucleoplasm;Cell membrane;Cilium;Cytosol;Centrosome NA 0 PE1 -NX_Q5EBL8 16131 140 6.65 X Nucleus;Secreted;Cytoplasm;Cytoplasm NA 0 PE1 -NX_Q5EBM0 49448 449 6.57 2 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q5EBM4 19729 170 9.47 19 Nucleus NA 0 PE5 -NX_Q5EBN2 24047 209 8.83 4 Nucleolus;Endoplasmic reticulum NA 0 PE2 -NX_Q5EE01 10061 88 11.29 6 Nucleoplasm;Nucleus;Centromere;Kinetochore;Nucleus matrix;Nucleolus NA 0 PE1 -NX_Q5EG05 22625 197 8.72 11 Mitochondrion NA 0 PE1 -NX_Q5F1R6 62028 531 5.34 5 Cytoplasmic vesicle;Nucleus;Cytoplasm;Nucleolus Bone marrow failure syndrome 3 0 PE1 -NX_Q5FBB7 64190 561 9.27 3 Nucleus;Centrosome;Centromere;Kinetochore;Spindle pole Chronic atrial and intestinal dysrhythmia 0 PE1 -NX_Q5FVE4 74354 666 8.67 19 Membrane;Cytoplasm;Cytosol NA 0 PE1 -NX_Q5FWE3 102197 981 7.7 3 Cytosol;Nucleus;Cell membrane;Membrane NA 7 PE1 -NX_Q5FWF4 123248 1079 8.74 2 Nucleus;Chromosome;Nucleus NA 0 PE1 -NX_Q5FWF5 94983 840 9.27 18 Chromosome;Nucleus NA 0 PE1 -NX_Q5FWF6 49984 425 9.3 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5FWF7 18241 155 6.9 2 Nucleus NA 0 PE1 -NX_Q5FYA8 63525 562 8.48 X Membrane NA 2 PE2 -NX_Q5FYB0 67235 599 9.15 4 Nucleolus;Cytoskeleton;Secreted NA 0 PE2 -NX_Q5FYB1 64030 569 8.82 5 Golgi apparatus;Secreted;Endoplasmic reticulum NA 0 PE1 -NX_Q5GAN3 17845 156 8.87 14 Secreted NA 0 PE1 -NX_Q5GAN4 17177 147 6.64 14 Secreted;Cytoplasmic vesicle;Cytoskeleton NA 0 PE2 -NX_Q5GAN6 24008 216 4.86 14 Secreted NA 0 PE2 -NX_Q5GFL6 82012 755 8.38 10 Secreted NA 0 PE1 -NX_Q5GH70 43406 373 8.55 8 Mitochondrion;Membrane NA 8 PE1 -NX_Q5GH72 63826 579 9.22 20 Membrane NA 7 PE1 -NX_Q5GH73 71638 641 8.19 8 Membrane NA 7 PE2 -NX_Q5GH76 71501 650 8.08 8 Membrane NA 10 PE1 -NX_Q5GH77 53448 459 9.13 22 Cell membrane NA 10 PE1 -NX_Q5GJ75 32659 292 8.75 15 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q5GLZ8 118563 1057 5.8 10 Cytosol;Nucleolus;Cytosol NA 0 PE1 -NX_Q5H8A3 17731 153 9.76 2 Secreted NA 0 PE2 -NX_Q5H8A4 108173 983 6.7 4 Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum membrane Mental retardation, autosomal recessive 53 12 PE1 -NX_Q5H8C1 244154 2179 5.55 9 Basement membrane Bifid nose, with or without anorectal and renal anomalies;Trigonocephaly 2;Manitoba oculotrichoanal syndrome 0 PE1 -NX_Q5H913 33003 290 9.24 X NA NA 0 PE1 -NX_Q5H943 12784 113 10.2 X Cell membrane NA 1 PE1 -NX_Q5H9B9 46091 411 5.4 X NA NA 0 PE5 -NX_Q5H9E4 34481 307 9.86 X Mitochondrion inner membrane NA 6 PE1 -NX_Q5H9F3 182526 1711 6.9 X Cell membrane;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q5H9I0 44967 405 5.91 X Cytoplasm;Nucleus NA 0 PE1 -NX_Q5H9J7 12602 111 4.73 X Cytoplasm NA 0 PE1 -NX_Q5H9J9 46373 407 5.07 X NA NA 0 PE3 -NX_Q5H9K5 74755 638 8.65 X Nucleus;Nucleoplasm NA 0 PE2 -NX_Q5H9L2 23307 206 4.74 X Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q5H9L4 52588 462 4.55 X Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q5H9M0 79040 696 4.88 X NA NA 0 PE1 -NX_Q5H9R4 39406 360 9.27 X Membrane NA 1 PE1 -NX_Q5H9R7 97669 873 4.5 11 Nucleoplasm;Cell membrane;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q5H9S7 58778 520 6.58 2 Membrane;Nucleoplasm;Nucleolus Woodhouse-Sakati syndrome 2 PE1 -NX_Q5H9T9 87956 825 4.22 14 Cytoplasm;Flagellum NA 0 PE1 -NX_Q5H9U9 197674 1706 8.57 4 Cytosol;Cell membrane NA 0 PE1 -NX_Q5HY64 115338 1035 6.74 X NA NA 0 PE2 -NX_Q5HY92 82146 759 6.24 2 Nucleoplasm;Nucleus matrix;Cytosol;Cytoplasmic vesicle;Cell membrane;Centrosome;Cell junction NA 0 PE1 -NX_Q5HY98 54507 468 9.55 19 Centrosome;Nucleus NA 0 PE1 -NX_Q5HYA8 111745 995 6.34 8 Cell membrane;Endoplasmic reticulum membrane;Cilium;Cilium basal body Meckel syndrome 3;COACH syndrome;Nephronophthisis 11;Joubert syndrome 6;Bardet-Biedl syndrome 6 PE1 -NX_Q5HYC2 228087 2103 9.18 9 Cytoplasmic vesicle;Cytosol;Nucleus NA 0 PE1 -NX_Q5HYI7 35093 312 7.64 5 Mitochondrion;Mitochondrion;Mitochondrion outer membrane NA 0 PE1 -NX_Q5HYI8 26423 236 6.6 3 Nucleoplasm NA 0 PE1 -NX_Q5HYJ1 42009 363 9.63 4 Endoplasmic reticulum;Membrane Ventricular tachycardia, catecholaminergic polymorphic, 3 3 PE1 -NX_Q5HYJ3 38708 339 9.38 11 Nucleus;Nucleus speckle;Nucleus;Nucleolus NA 0 PE1 -NX_Q5HYK3 37140 327 6.47 12 Mitochondrion;Mitochondrion inner membrane;Nucleolus NA 0 PE1 -NX_Q5HYK7 86525 790 8.54 4 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q5HYK9 70161 610 9.79 19 Nucleus;Nucleus NA 0 PE1 -NX_Q5HYL7 19025 178 8.52 7 Membrane NA 4 PE2 -NX_Q5HYM0 94205 836 7.6 X Golgi apparatus;Cytoplasmic vesicle;Endoplasmic reticulum NA 0 PE2 -NX_Q5HYN5 21273 189 9.85 X NA NA 0 PE1 -NX_Q5HYR2 20139 192 6.5 X NA NA 0 PE2 -NX_Q5HYW2 76301 709 7.25 X Mitochondrion NA 0 PE1 -NX_Q5HYW3 64711 569 4.71 X Nucleoplasm NA 0 PE1 -NX_Q5I0G3 58651 518 5.85 2 NA NA 0 PE1 -NX_Q5I0X4 10566 101 8.02 6 Nucleus speckle NA 0 PE1 -NX_Q5I0X7 17296 151 4.86 2 Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q5I7T1 55448 473 9.33 12 Cell membrane NA 12 PE1 -NX_Q5IJ48 134265 1285 5.31 9 Apical cell membrane;Secreted Ventriculomegaly with cystic kidney disease;Focal segmental glomerulosclerosis 9 1 PE1 -NX_Q5J5C9 8456 76 8.99 20 Secreted NA 0 PE1 -NX_Q5J8M3 20087 183 8.84 15 Cell junction;Focal adhesion;Membrane NA 2 PE1 -NX_Q5J8X5 17307 152 8.82 11 Membrane NA 4 PE2 -NX_Q5JNZ3 76322 666 9.03 6 Nucleus NA 0 PE1 -NX_Q5JNZ5 13002 115 10.55 X NA NA 0 PE5 -NX_Q5JPB2 177949 1677 8.67 20 NA NA 0 PE1 -NX_Q5JPE7 139439 1267 5.5 16 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q5JPF3 199748 1778 8.02 2 NA NA 0 PE1 -NX_Q5JPH6 58689 523 8.97 16 Mitochondrion matrix;Nucleoplasm;Mitochondrion Combined oxidative phosphorylation deficiency 12 0 PE1 -NX_Q5JPI3 37541 329 6.01 3 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q5JPI9 31830 291 5.77 10 Nucleus;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q5JQC4 30100 288 4.2 X NA NA 0 PE1 -NX_Q5JQC9 94477 854 6.56 X Flagellum NA 0 PE1 -NX_Q5JQD4 7832 70 4.43 X Secreted NA 0 PE5 -NX_Q5JQF7 7289 62 11.22 6 NA NA 0 PE4 -NX_Q5JQF8 22799 200 9.18 X NA NA 0 PE1 -NX_Q5JQS5 35342 317 9.12 1 Cell membrane NA 7 PE2 -NX_Q5JQS6 15712 135 6.22 1 Cytosol NA 0 PE1 -NX_Q5JR12 54834 505 7.19 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q5JR59 150195 1369 6.23 13 Cytoskeleton;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q5JR98 23353 221 9.87 1 NA NA 0 PE1 -NX_Q5JRA6 213702 1907 4.76 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q5JRC9 90592 791 9.24 X NA NA 0 PE1 -NX_Q5JRK9 12041 111 4.06 X NA NA 0 PE1 -NX_Q5JRM2 39944 361 9.59 X Membrane NA 1 PE1 -NX_Q5JRS4 36549 329 8.66 1 Cell membrane NA 7 PE3 -NX_Q5JRV8 38449 349 8.23 X Nucleus;Nucleus;Membrane NA 4 PE2 -NX_Q5JRX3 117413 1037 6.45 10 Mitochondrion matrix;Mitochondrion NA 0 PE1 -NX_Q5JS13 62133 557 9.21 9 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q5JS37 38283 347 5.98 13 Secreted NA 0 PE1 -NX_Q5JS54 13775 123 6.04 6 Mitochondrion;Nucleus;Cytoplasm NA 0 PE1 -NX_Q5JSH3 101366 913 5.29 X Endosome membrane;Golgi apparatus;Cytosol;Perinuclear region;trans-Golgi network NA 0 PE1 -NX_Q5JSJ4 96673 861 8.89 X Centrosome;Mitochondrion NA 0 PE1 -NX_Q5JSL3 237671 2073 7.87 X Nucleolus;Nucleus membrane NA 0 PE1 -NX_Q5JSP0 79401 725 5.78 9 Cytosol;Cytoskeleton;Nucleus;Cytoplasm NA 0 PE1 -NX_Q5JSQ8 14546 128 5.41 6 NA NA 0 PE5 -NX_Q5JSS6 10795 88 9.14 10 NA NA 0 PE2 -NX_Q5JST6 87397 749 7.14 X NA NA 0 PE1 -NX_Q5JSZ5 242967 2229 8.55 9 Nucleus;Cytosol NA 0 PE1 -NX_Q5JT25 25038 222 5.14 X Cytoplasm NA 0 PE1 -NX_Q5JT78 10987 98 7.65 1 NA NA 0 PE4 -NX_Q5JT82 42577 389 6.27 1 Nucleus NA 0 PE1 -NX_Q5JTB6 10309 97 4.8 10 Secreted NA 0 PE1 -NX_Q5JTC6 124029 1135 4.77 X Cytoplasm;Cell membrane;Nucleus;Cytoplasmic vesicle;Cell membrane;Nucleus Osteopathia striata with cranial sclerosis 0 PE1 -NX_Q5JTD0 61821 557 5.67 6 Tight junction;Golgi apparatus;Golgi apparatus NA 0 PE1 -NX_Q5JTD7 33409 316 4.73 6 Cytosol NA 0 PE1 -NX_Q5JTH9 143702 1297 8.97 10 Nucleolus;Nucleolus;Nucleus membrane NA 1 PE1 -NX_Q5JTJ3 14116 125 8.54 1 Mitochondrion;Mitochondrion intermembrane space Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 0 PE1 -NX_Q5JTN6 34312 314 8.89 9 NA NA 0 PE1 -NX_Q5JTV8 66248 583 8.22 1 Nucleus membrane;Nucleus inner membrane Limb-girdle muscular dystrophy 2Y 1 PE1 -NX_Q5JTW2 76396 689 8.47 9 Centrosome;Cilium basal body;Centriole Cone-rod dystrophy and hearing loss 0 PE1 -NX_Q5JTY5 44038 395 4.76 9 NA NA 0 PE2 -NX_Q5JTZ5 26314 239 8.94 9 Nucleus NA 0 PE1 -NX_Q5JTZ9 107340 985 5.87 6 Mitochondrion;Mitochondrion Leukoencephalopathy, progressive, with ovarian failure;Combined oxidative phosphorylation deficiency 8 0 PE1 -NX_Q5JU00 55632 501 6.31 6 Cytoplasmic vesicle NA 0 PE1 -NX_Q5JU67 60533 520 8.88 9 Cell membrane;Cilium basal body;Cytosol NA 0 PE1 -NX_Q5JU69 35714 321 8.13 9 Endoplasmic reticulum lumen NA 0 PE1 -NX_Q5JU85 161736 1478 8.78 X Cytoplasm;Cytoplasmic vesicle Mental retardation, X-linked 1 0 PE1 -NX_Q5JUK2 34526 328 5.27 9 Nucleus speckle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q5JUK3 138343 1230 7.48 9 Cell membrane Epileptic encephalopathy, early infantile, 14;Epilepsy, nocturnal frontal lobe, 5 6 PE1 -NX_Q5JUK9 12480 113 4.61 X NA NA 0 PE1 -NX_Q5JUQ0 31968 283 8.22 9 Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q5JUR7 25585 227 8.9 13 NA NA 0 PE1 -NX_Q5JUW0 20100 171 5.54 X NA NA 0 PE2 -NX_Q5JUX0 29207 258 6.31 X Nucleoplasm NA 0 PE1 -NX_Q5JV73 199209 1810 8.44 X NA NA 0 PE1 -NX_Q5JVF3 46030 399 8.78 13 Nucleolus;Nucleus NA 0 PE1 -NX_Q5JVG2 98221 852 8.68 9 Nucleus membrane;Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q5JVG8 51537 444 9.42 19 Nucleus;Nucleus NA 0 PE2 -NX_Q5JVL4 73990 640 5.82 6 Cytosol;Cell membrane;Centrosome;Spindle Juvenile myoclonic epilepsy 1;Juvenile absence epilepsy 1 0 PE1 -NX_Q5JVS0 45785 413 6.97 9 Cytoplasm;Nucleoplasm;Cytosol;Nucleolus;Nucleus speckle;Cajal body;Gem;Nucleus;Cytoplasm;Cytoplasmic granule;Sarcoplasm;Nuclear body NA 0 PE1 -NX_Q5JVX7 46135 400 9.7 1 NA NA 0 PE2 -NX_Q5JW98 35060 314 6.44 6 Membrane NA 4 PE1 -NX_Q5JWF2 111025 1037 4.91 20 Cell membrane;Apical cell membrane Pseudohypoparathyroidism 1C;GNAS hyperfunction;Pseudohypoparathyroidism 1B;ACTH-independent macronodular adrenal hyperplasia 1 0 PE1 -NX_Q5JWF8 26751 245 9.5 20 NA NA 0 PE1 -NX_Q5JWR5 277355 2465 5.88 6 Nucleus NA 0 PE1 -NX_Q5JX69 19499 171 9.08 20 Membrane NA 1 PE1 -NX_Q5JX71 19603 171 9.51 20 Membrane NA 1 PE1 -NX_Q5JXA9 36968 342 5.47 20 Nucleus;Membrane NA 1 PE1 -NX_Q5JXB2 17377 153 5.66 X NA NA 0 PE1 -NX_Q5JXC2 42824 388 8.68 1 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q5JXM2 41330 366 9.41 6 Secreted NA 0 PE2 -NX_Q5JXX5 47728 417 8.5 X Perikaryon;Dendrite;Postsynaptic cell membrane;Synapse;Cell membrane NA 3 PE2 -NX_Q5JXX7 19813 168 6.09 X Nucleolus;Membrane NA 2 PE1 -NX_Q5JY77 156865 1395 4.64 X Cytosol;Cytoplasm NA 0 PE1 -NX_Q5JYT7 130846 1200 5.97 20 Nucleolus;Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q5JZY3 109716 1008 6.52 1 Cell membrane;Secreted NA 1 PE1 -NX_Q5K130 10963 101 9.55 12 NA NA 0 PE5 -NX_Q5K131 14228 121 9.08 12 Cytoplasm NA 0 PE2 -NX_Q5K4E3 91955 855 5.41 16 Extracellular matrix NA 0 PE1 -NX_Q5K4L6 78644 730 7.25 1 Endoplasmic reticulum;Mitochondrion membrane NA 2 PE1 -NX_Q5K651 184281 1589 7.98 7 Cytosol;Cytoplasm;Cytoplasmic vesicle Tumoral calcinosis, normophosphatemic, familial;MIRAGE syndrome 0 PE1 -NX_Q5KSL6 141829 1271 5.36 X Membrane;Cytoplasm NA 0 PE1 -NX_Q5KU26 81515 742 5.48 18 Cell junction;Membrane;Golgi apparatus;Cytoplasmic vesicle NA 1 PE1 -NX_Q5M775 118585 1068 6.29 17 Nucleus;Membrane NA 0 PE1 -NX_Q5M7Z0 49710 435 8.85 17 Endoplasmic reticulum membrane;Nucleolus NA 6 PE1 -NX_Q5M8T2 44183 416 6.94 6 Membrane;Microtubule organizing center NA 10 PE1 -NX_Q5M9N0 127140 1113 6.08 4 NA NA 0 PE1 -NX_Q5M9Q1 46312 402 9.73 6 Nucleus NA 0 PE2 -NX_Q5MAI5 43384 379 9 2 Cytoplasm NA 0 PE1 -NX_Q5MCW4 79583 686 8.97 19 Golgi apparatus;Nucleus;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q5MIZ7 97458 849 4.87 2 Nucleus speckle;Nucleus;Nucleoplasm;Centrosome;Cytoplasm;Centrosome NA 0 PE1 -NX_Q5MJ07 8277 72 8.6 X NA NA 0 PE2 -NX_Q5MJ08 11168 99 9.25 X NA NA 0 PE1 -NX_Q5MJ09 15595 141 4.22 X NA NA 0 PE1 -NX_Q5MJ10 19917 180 3.86 X NA NA 0 PE1 -NX_Q5MJ68 33166 293 8.4 11 Cytoplasm NA 0 PE1 -NX_Q5MJ70 36463 313 9.07 2 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5MNV8 51968 452 8.69 17 NA NA 0 PE2 -NX_Q5MNZ6 38122 344 7.53 17 Cytosol;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q5MNZ9 48673 446 6.14 17 Preautophagosomal structure membrane;Clathrin-coated vesicle;Endosome;Cytoskeleton;trans-Golgi network NA 0 PE1 -NX_Q5MY95 53904 495 5.19 9 Cell membrane;Cytoplasmic vesicle;Nucleoplasm;Cytosol NA 2 PE1 -NX_Q5NDL2 62011 527 6.58 3 Nucleoplasm;Cytosol;Endoplasmic reticulum lumen;Nucleus membrane Adams-Oliver syndrome 4 0 PE1 -NX_Q5NE16 25059 218 6.64 9 NA NA 0 PE5 -NX_Q5NUL3 42241 377 9.52 10 Cell membrane;Cell membrane NA 7 PE1 -NX_Q5PR19 24634 223 10.47 9 NA NA 0 PE2 -NX_Q5PRF9 75483 694 6.37 19 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q5PSV4 37629 323 5.04 14 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q5PT55 48871 438 9.02 8 Cell membrane;Membrane NA 9 PE2 -NX_Q5QFB9 12196 102 9.78 9 Endoplasmic reticulum membrane NA 2 PE5 -NX_Q5QGS0 167551 1516 6.03 X Nucleoplasm;Nucleus;Cytoplasm;Midbody Mental retardation, X-linked 98 0 PE1 -NX_Q5QGT7 26068 225 5.63 3 Cell membrane NA 1 PE1 -NX_Q5QGZ9 30762 265 8.87 12 Cell membrane NA 1 PE1 -NX_Q5QJ38 99275 904 4.62 1 Nucleus membrane;Nucleolus NA 0 PE1 -NX_Q5QJ74 48195 424 5.23 11 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q5QJE6 84469 756 5.86 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q5QJU3 31309 275 7.87 9 Golgi apparatus membrane NA 7 PE1 -NX_Q5QNW6 13920 126 10.31 1 Chromosome;Nucleus NA 0 PE1 -NX_Q5QP82 60582 559 7.3 9 Nucleolus NA 0 PE1 -NX_Q5R372 92513 815 5.18 1 Cytoplasmic vesicle;Nucleolus;Cytosol;Early endosome;Golgi apparatus Leukemia, acute myelogenous 0 PE1 -NX_Q5R387 16844 149 8.89 1 Secreted NA 0 PE3 -NX_Q5R3F8 89687 820 7.56 22 Nucleoplasm;Membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q5R3I4 52787 469 5.61 22 Cytosol NA 0 PE1 -NX_Q5R3K3 34458 315 8.87 6 Membrane NA 4 PE1 -NX_Q5RGS3 14779 127 10.5 9 Membrane NA 1 PE1 -NX_Q5RHP9 168466 1530 4.84 1 NA NA 0 PE1 -NX_Q5RI15 13291 118 9 1 Mitochondrion membrane;Mitochondrion NA 2 PE1 -NX_Q5RIA9 44068 395 4.76 9 Nucleus;Cytoplasm NA 0 PE2 -NX_Q5RKV6 28235 272 6.06 16 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q5RL73 41808 367 8.92 7 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q5S007 286103 2527 6.35 12 Cytoplasmic vesicle;Endoplasmic reticulum;Nucleus;Membrane;Cytoplasm;Golgi apparatus;Perikaryon;Mitochondrion;Axon;Mitochondrion matrix;Mitochondrion outer membrane;Mitochondrion inner membrane;Dendrite;Synaptic vesicle membrane;Endosome;Lysosome Parkinson disease 8 0 PE1 -NX_Q5SGD2 41053 360 5.58 3 Cytosol;Nucleoplasm;Membrane NA 1 PE1 -NX_Q5SNT2 72236 666 9.42 1 Nucleus membrane;Spindle pole;Nucleus inner membrane;Nucleus NA 5 PE1 -NX_Q5SNV9 162423 1468 10.71 1 NA NA 0 PE2 -NX_Q5SQ13 24070 230 9.25 9 NA NA 0 PE4 -NX_Q5SQ64 32465 297 8.91 6 Cell membrane NA 1 PE1 -NX_Q5SQ80 94087 823 8.12 9 NA NA 0 PE4 -NX_Q5SQH8 35794 315 8.99 6 NA NA 0 PE1 -NX_Q5SQI0 46810 421 9.97 6 Golgi apparatus;Cytosol;Focal adhesion;Axon;Cytoplasm;Clathrin-coated pit;Cytoskeleton;Spindle NA 0 PE1 -NX_Q5SQN1 52562 464 8.87 1 Endomembrane system;Perinuclear region;Cytosol NA 0 PE1 -NX_Q5SQQ9 34713 334 9.47 10 Nucleolus;Nucleus;Nucleus Microphthalmia, syndromic, 11 0 PE1 -NX_Q5SQS7 51232 431 5.87 10 NA NA 0 PE2 -NX_Q5SQS8 39268 335 9.5 10 NA NA 0 PE1 -NX_Q5SR53 18168 167 9.65 1 NA NA 0 PE2 -NX_Q5SR56 54545 506 5.16 9 Nucleoplasm;Cytosol;Membrane NA 12 PE1 -NX_Q5SRD0 33372 308 5.2 10 NA NA 0 PE3 -NX_Q5SRD1 28048 257 9.47 10 Mitochondrion inner membrane NA 2 PE5 -NX_Q5SRE5 196043 1749 6.27 9 Nuclear pore complex;Nucleus NA 0 PE1 -NX_Q5SRE7 32411 291 5.88 9 Nucleus speckle NA 0 PE1 -NX_Q5SRH9 69778 613 7.25 1 Centrosome NA 0 PE1 -NX_Q5SRI9 53671 462 9.14 6 Golgi apparatus;Golgi apparatus membrane NA 1 PE1 -NX_Q5SRN2 61626 563 9.28 6 Membrane NA 2 PE1 -NX_Q5SRR4 16650 150 8.04 6 Nucleoplasm;Cytosol;Secreted NA 0 PE1 -NX_Q5SSG8 54228 566 4.8 6 Cell membrane NA 1 PE1 -NX_Q5SSJ5 61207 553 9.69 1 Nucleus;Nucleus speckle;Nucleus;Chromosome NA 0 PE1 -NX_Q5SSQ6 16650 148 7.88 6 Cell junction;Cytoplasmic vesicle NA 0 PE2 -NX_Q5ST30 118490 1063 6.56 6 Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 20 0 PE1 -NX_Q5SV17 19908 173 7.71 1 Synapse;Cell membrane Spinocerebellar ataxia 21 2 PE1 -NX_Q5SV97 81351 790 5.4 1 Cytoplasm;Nucleus NA 0 PE1 -NX_Q5SVJ3 17617 147 9.64 1 NA NA 0 PE1 -NX_Q5SVQ8 105192 909 8.17 1 Nucleus;Nucleus membrane;Nucleus;Cytosol NA 0 PE1 -NX_Q5SVS4 32475 291 9.49 13 Mitochondrion inner membrane;Nucleoplasm NA 6 PE1 -NX_Q5SVZ6 128717 1142 7.51 1 Microtubule organizing center;Nucleus NA 0 PE1 -NX_Q5SW24 82700 774 9.09 6 NA NA 0 PE2 -NX_Q5SW79 175293 1584 6.64 1 Spindle;Centriole NA 0 PE1 -NX_Q5SW96 33885 308 6.25 1 Cytoplasm;Cytoskeleton Hypercholesterolemia, autosomal recessive 0 PE1 -NX_Q5SWA1 79152 713 4.59 1 Golgi apparatus Microcephaly, short stature, and impaired glucose metabolism 2 0 PE1 -NX_Q5SWH9 27551 247 9.98 1 Membrane;Nucleoplasm NA 5 PE1 -NX_Q5SWL7 49433 426 8.7 1 NA NA 0 PE3 -NX_Q5SWL8 55208 479 7.99 1 NA NA 0 PE3 -NX_Q5SWW7 16057 151 6.95 10 Nucleus NA 0 PE1 -NX_Q5SWX8 51103 454 5.62 1 Cell membrane;Membrane;Nucleoplasm NA 2 PE1 -NX_Q5SXH7 51839 462 5.55 10 Centrosome NA 0 PE1 -NX_Q5SXM1 61411 525 9.36 1 Mitochondrion;Nucleolus;Nucleus;Cytosol NA 0 PE1 -NX_Q5SXM2 159433 1469 8.51 9 Nucleoplasm;Nucleus membrane;Nucleus NA 0 PE1 -NX_Q5SXM8 19204 178 9.88 9 Nucleoplasm;Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q5SY13 6588 56 10.35 9 NA NA 0 PE5 -NX_Q5SY16 79323 702 9.3 1 Nucleus;Nucleolus;Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q5SY68 11302 101 4.99 1 NA NA 0 PE1 -NX_Q5SY80 109662 951 6.86 1 Flagellum membrane NA 1 PE1 -NX_Q5SY85 16478 155 9.12 9 NA NA 0 PE4 -NX_Q5SYB0 173437 1578 5.14 9 Cytosol;Cell membrane NA 0 PE1 -NX_Q5SYC1 38000 327 5.8 6 Early endosome membrane;trans-Golgi network membrane;Clathrin-coated vesicle NA 0 PE1 -NX_Q5SYE7 170668 1610 6.52 6 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q5SZB4 47639 431 10.38 9 NA NA 0 PE2 -NX_Q5SZD1 26754 244 8.14 6 Nucleus membrane NA 0 PE1 -NX_Q5SZD4 32704 288 9.06 6 NA NA 0 PE1 -NX_Q5SZI1 28581 272 5.45 1 Membrane NA 1 PE1 -NX_Q5SZJ8 31222 279 8.54 6 Nucleus;Cell membrane;Nucleus NA 0 PE1 -NX_Q5SZK8 351157 3169 4.89 13 Cytosol;Cell membrane Fraser syndrome 1 PE1 -NX_Q5SZL2 91808 805 5.98 6 Centrosome NA 0 PE1 -NX_Q5SZQ8 50548 465 8.74 1 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q5T011 378029 3432 5.85 1 Cytoplasmic vesicle;Peroxisome;Lysosome membrane;Nucleoplasm;Cytoskeleton Epileptic encephalopathy, early infantile, 18 0 PE1 -NX_Q5T013 30406 277 5.36 1 Golgi apparatus;Cell membrane;Cytosol NA 0 PE1 -NX_Q5T035 20715 196 6.78 9 Mitochondrion NA 0 PE4 -NX_Q5T036 27929 256 11.93 9 NA NA 0 PE2 -NX_Q5T089 53850 497 6.64 1 Nucleus;Mitochondrion NA 0 PE1 -NX_Q5T0B9 45814 420 9.7 1 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q5T0D9 30212 272 6.85 1 Cytoplasmic vesicle;Cytosol;Synaptic vesicle membrane NA 0 PE1 -NX_Q5T0F9 94224 858 5.18 1 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q5T0J3 15074 134 9.92 1 NA NA 0 PE2 -NX_Q5T0J7 26518 233 9.22 1 Cytoskeleton NA 0 PE1 -NX_Q5T0L3 29150 261 7.48 1 Nucleus membrane NA 0 PE1 -NX_Q5T0N1 125721 1121 5.57 10 Cilium NA 0 PE1 -NX_Q5T0N5 70065 605 6.2 1 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Cell cortex;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q5T0T0 32965 291 8.1 10 Cytoplasmic vesicle membrane;Lysosome membrane;Early endosome membrane NA 2 PE1 -NX_Q5T0U0 32206 273 6.54 13 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q5T0W9 114799 1011 9.04 6 Membrane;Cytoplasm NA 0 PE1 -NX_Q5T0Z8 124034 1188 9.48 6 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q5T124 57373 520 5.06 1 Cytosol;Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q5T160 65505 578 8.41 6 Cytosol;Nucleus;Mitochondrion matrix Pontocerebellar hypoplasia 6 0 PE1 -NX_Q5T197 80712 706 9.28 1 Cell membrane NA 6 PE1 -NX_Q5T1A1 86230 773 8.51 1 Membrane NA 6 PE1 -NX_Q5T1B0 118027 1012 5.49 1 NA NA 0 PE1 -NX_Q5T1B1 15403 145 6.9 10 NA NA 0 PE2 -NX_Q5T1C6 27130 240 8.58 1 Cell membrane;Mitochondrion intermembrane space;Ruffle membrane;Cytoplasm;Mitochondrion;Mitochondrion inner membrane NA 0 PE1 -NX_Q5T1H1 350796 3165 5.5 6 Secreted Retinitis pigmentosa 25 0 PE1 -NX_Q5T1J5 15490 151 9.95 9 Mitochondrion NA 0 PE5 -NX_Q5T1J6 17173 154 6.49 20 NA NA 0 PE2 -NX_Q5T1M5 133630 1219 5.11 9 Cytosol;Cytoplasm;Axon;Nucleolus;Early endosome NA 0 PE1 -NX_Q5T1N1 92864 836 6.36 1 NA NA 0 PE2 -NX_Q5T1Q4 45346 408 7.04 6 Membrane;Cytosol;Microtubule organizing center;Nucleoplasm NA 10 PE1 -NX_Q5T1R4 259465 2406 7.85 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q5T1S8 11082 102 9.86 1 Cell membrane NA 1 PE2 -NX_Q5T1V6 68810 619 7.18 1 Cytoplasm;Nucleus;Nucleus;Nucleus;Cytoplasm;Cytoskeleton Orofaciodigital syndrome 5 0 PE1 -NX_Q5T200 196635 1668 9.45 13 Nucleus membrane;Cytoskeleton;Nucleus speckle;Nucleoplasm NA 0 PE1 -NX_Q5T215 20566 181 8.11 6 cis-Golgi network;Endoplasmic reticulum NA 0 PE1 -NX_Q5T230 36439 341 10.9 10 Nucleus NA 0 PE1 -NX_Q5T280 42009 376 7.11 9 Nucleus;Centrosome;Kinetochore;Spindle;Nucleolus NA 0 PE1 -NX_Q5T292 11325 105 9.58 10 Membrane NA 1 PE2 -NX_Q5T2D2 35127 321 9.68 6 Cell membrane NA 1 PE1 -NX_Q5T2D3 45124 398 8.47 1 Cytosol;Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q5T2E6 78710 689 6.13 10 Membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q5T2L2 14588 129 5.92 10 Cytoplasm NA 0 PE5 -NX_Q5T2N8 46380 411 9.37 1 NA NA 0 PE1 -NX_Q5T2Q4 41278 361 6.17 10 NA NA 0 PE3 -NX_Q5T2R2 46261 415 9.17 10 Cytosol;Mitochondrion Coenzyme Q10 deficiency, primary, 2 0 PE1 -NX_Q5T2S8 115679 1044 7.98 10 Cilium basal body;Cilium axoneme Ciliary dyskinesia, primary, 23 0 PE1 -NX_Q5T2T1 65524 576 6.65 10 Cell junction;Tight junction;Membrane;Adherens junction NA 0 PE1 -NX_Q5T2W1 57129 519 5.36 1 Membrane;Cell membrane NA 0 PE1 -NX_Q5T319 15775 152 6.04 20 NA NA 0 PE2 -NX_Q5T3F8 94958 832 7.23 6 Cytoskeleton;Cell membrane;Membrane NA 10 PE1 -NX_Q5T3I0 50381 446 9.64 1 Nucleolus;Nucleus NA 0 PE1 -NX_Q5T3J3 84568 769 9.72 1 Nucleus matrix;Nucleus;Microtubule organizing center NA 0 PE1 -NX_Q5T3U5 161629 1492 6.64 6 Cell membrane NA 17 PE1 -NX_Q5T3Y7 11178 98 9.18 6 NA NA 0 PE5 -NX_Q5T440 38155 356 9.88 1 Mitochondrion;Mitochondrion Spastic paraplegia 74, autosomal recessive;Multiple mitochondrial dysfunctions syndrome 3 0 PE1 -NX_Q5T442 47002 439 7.56 1 Cell membrane;Gap junction Lymphedema, hereditary, 1C;Spastic paraplegia 44, autosomal recessive;Leukodystrophy, hypomyelinating, 2 4 PE1 -NX_Q5T447 97113 861 5.47 1 Perinuclear region NA 0 PE1 -NX_Q5T481 134357 1227 5.48 10 Cytoskeleton;Golgi apparatus;Nucleolus;Nucleus;Nucleus Cardiomyopathy, dilated 1DD 0 PE1 -NX_Q5T4B2 67592 595 5.7 9 Cell junction;Endoplasmic reticulum lumen;Nucleolus;Nucleus NA 0 PE1 -NX_Q5T4D3 82991 741 9.11 13 Cytoplasmic vesicle;Membrane NA 12 PE1 -NX_Q5T4F4 45843 411 5.09 10 Cytosol;Nucleoplasm;Growth cone membrane;Endoplasmic reticulum membrane;Recycling endosome membrane Spastic paraplegia 33, autosomal dominant 3 PE1 -NX_Q5T4F7 35563 317 8.88 10 Secreted NA 0 PE1 -NX_Q5T4H9 14851 136 11.17 10 Nucleoplasm NA 0 PE2 -NX_Q5T4I8 17383 152 4.52 6 Nucleus speckle NA 0 PE2 -NX_Q5T4J0 44527 391 8.36 6 Golgi apparatus membrane NA 1 PE3 -NX_Q5T4S7 573841 5183 5.7 1 Cytoplasm;Cytoskeleton;Cytosol;Membrane;Nucleoplasm;Centrosome;Nucleus NA 2 PE1 -NX_Q5T4T1 14360 132 10.4 6 Centrosome;Membrane NA 3 PE2 -NX_Q5T4T6 93599 812 5.57 6 Nucleoplasm;Nucleus;Centromere NA 0 PE1 -NX_Q5T4W7 22878 220 11.7 1 Mitochondrion;Secreted NA 0 PE1 -NX_Q5T5A4 19350 169 9.27 1 Nucleus speckle;Cytosol NA 0 PE1 -NX_Q5T5A8 9729 94 8.73 1 NA NA 0 PE1 -NX_Q5T5B0 9507 92 9.07 1 NA NA 0 PE1 -NX_Q5T5C0 127573 1151 6.96 6 Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle membrane;Synaptic vesicle;Synapse NA 0 PE1 -NX_Q5T5D7 43945 378 9.06 1 Nucleus;Cytosol;Nucleus NA 0 PE1 -NX_Q5T5F5 14090 129 11.14 1 NA NA 0 PE2 -NX_Q5T5J6 103222 900 8.98 1 Cytosol NA 0 PE1 -NX_Q5T5M9 42581 372 6.75 10 Golgi apparatus;Nucleoplasm NA 0 PE2 -NX_Q5T5N4 53772 469 8.61 6 Mitochondrion NA 0 PE2 -NX_Q5T5P2 214116 1943 6.59 10 Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q5T5S1 62689 534 8.93 9 NA NA 0 PE1 -NX_Q5T5U3 217331 1957 7.85 10 Cytoskeleton;Cell membrane;Cell junction;Golgi apparatus membrane;Cell junction;Cytoplasmic vesicle membrane;Cytoskeleton NA 0 PE1 -NX_Q5T5X7 94475 828 5.29 6 Nucleoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_Q5T5Y3 177972 1602 6.28 9 Spindle;Cytosol;Cytoskeleton NA 0 PE1 -NX_Q5T601 101365 910 8.91 6 Cell membrane;Secreted NA 7 PE1 -NX_Q5T619 62341 568 8.97 1 Nucleus NA 0 PE1 -NX_Q5T653 33301 305 11.29 6 Mitochondrion;Nucleoplasm;Mitochondrion NA 0 PE1 -NX_Q5T655 103417 872 8.44 10 Cilium;Nucleus NA 0 PE1 -NX_Q5T681 25128 223 7.08 10 NA NA 0 PE1 -NX_Q5T686 16773 147 10.84 10 Nucleus;Cell membrane NA 0 PE1 -NX_Q5T699 46784 404 8.77 6 NA NA 0 PE5 -NX_Q5T6C5 77181 722 9.4 1 Cytosol;Nucleolus;Cytoplasmic vesicle NA 0 PE1 -NX_Q5T6F0 50517 453 9.23 9 Cytoplasm;Centrosome NA 0 PE1 -NX_Q5T6F2 117116 1119 6.89 9 Cytosol NA 0 PE1 -NX_Q5T6J7 20578 187 5.84 9 Cytosol;Mitochondrion NA 0 PE1 -NX_Q5T6L9 77788 678 6.28 6 Endoplasmic reticulum membrane;Cytosol Periventricular nodular heterotopia 6 2 PE1 -NX_Q5T6M2 23040 205 11.95 6 NA NA 0 PE5 -NX_Q5T6R2 15541 138 6.89 13 NA NA 0 PE5 -NX_Q5T6S3 65591 580 9.08 9 Nucleus NA 0 PE1 -NX_Q5T6V5 39029 341 5.61 9 Golgi apparatus NA 0 PE1 -NX_Q5T6X4 17685 162 10.77 6 Membrane NA 1 PE1 -NX_Q5T6X5 104753 926 8.29 6 Cell membrane NA 7 PE1 -NX_Q5T700 21834 205 5.33 1 Membrane;Nucleoplasm;Golgi apparatus NA 1 PE1 -NX_Q5T742 14441 122 10.26 10 Secreted NA 0 PE2 -NX_Q5T749 64136 579 8.72 1 Cytoplasm NA 0 PE1 -NX_Q5T750 26238 250 8.41 1 NA NA 0 PE1 -NX_Q5T751 11543 118 8.83 1 NA NA 0 PE1 -NX_Q5T752 11230 114 8.82 1 NA NA 0 PE1 -NX_Q5T753 11616 118 8.71 1 NA NA 0 PE1 -NX_Q5T754 11654 118 8.83 1 NA NA 0 PE1 -NX_Q5T764 54993 474 7.62 10 NA NA 0 PE1 -NX_Q5T7B8 151903 1368 6.69 9 Centriole NA 0 PE1 -NX_Q5T7M4 32416 302 9.41 1 Cytoplasmic vesicle;Secreted;Secreted NA 0 PE1 -NX_Q5T7M9 49024 428 6.92 1 Cytosol;Endoplasmic reticulum membrane;Nucleus NA 1 PE1 -NX_Q5T7N2 98850 865 4.87 1 NA NA 0 PE1 -NX_Q5T7N3 107342 995 5.15 1 Cytosol;Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q5T7N8 24905 215 11.93 9 NA NA 0 PE3 -NX_Q5T7P2 10982 110 8.84 1 NA NA 0 PE1 -NX_Q5T7P3 11626 118 8.83 1 NA NA 0 PE1 -NX_Q5T7P6 15193 136 4.87 1 Membrane NA 2 PE2 -NX_Q5T7P8 57325 510 8.47 1 Cytoplasmic vesicle;Synaptic vesicle membrane;Membrane;Cytosol;Cell membrane NA 1 PE1 -NX_Q5T7R7 22411 199 7.67 1 Membrane NA 1 PE1 -NX_Q5T7V8 44993 394 6.66 1 Golgi apparatus;Cytosol;Cytoplasm;Golgi apparatus;Nucleus Geroderma osteodysplasticum 0 PE1 -NX_Q5T7W0 104956 954 6.7 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5T7W7 58263 516 6.89 9 Nucleoplasm NA 0 PE1 -NX_Q5T848 135489 1215 8.57 10 Cell membrane;Cytosol NA 7 PE1 -NX_Q5T870 12904 116 4.96 1 NA NA 0 PE1 -NX_Q5T871 10697 98 8.44 1 NA NA 0 PE1 -NX_Q5T890 177127 1561 8.83 9 Mitochondrion;Centrosome;Nucleoplasm;Cytosol;Nucleus Bone marrow failure syndrome 2 0 PE1 -NX_Q5T8A7 127351 1209 8.84 9 Nucleolus;Nucleoplasm NA 0 PE1 -NX_Q5T8D3 60092 534 5.19 10 Peroxisome;Peroxisome membrane NA 1 PE1 -NX_Q5T8I3 39308 360 6.62 1 Cytosol;Nucleolus NA 0 PE1 -NX_Q5T8I9 44525 393 5.16 1 Cell membrane;Cytoplasm;Focal adhesion NA 0 PE1 -NX_Q5T8P6 113597 1007 9.21 13 Nucleus speckle NA 0 PE1 -NX_Q5T8R8 31184 295 11.77 9 NA NA 0 PE1 -NX_Q5T953 42109 404 6.45 9 Nucleus NA 0 PE1 -NX_Q5T9A4 72573 648 9.3 1 Mitochondrion inner membrane NA 0 PE1 -NX_Q5T9C2 41785 384 8.83 9 Cytosol NA 0 PE1 -NX_Q5T9C9 44572 394 9.63 9 Cytosol;Cytoplasm;Membrane NA 0 PE1 -NX_Q5T9G4 38632 340 8.02 6 Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q5T9L3 62253 541 6.98 1 Cytoplasmic vesicle membrane;Cell membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum;Early endosome membrane NA 7 PE1 -NX_Q5T9S5 168962 1454 5.52 1 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q5T9Z0 31315 273 8.02 1 Membrane NA 6 PE2 -NX_Q5TA31 26190 235 5.7 1 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q5TA45 67663 600 8.27 1 Nucleus;Cytoplasm;Cytosol;Nucleus;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q5TA50 24365 214 6.71 1 Cytosol;Endosome membrane;Nucleus outer membrane;Cytosol;trans-Golgi network membrane;Cell membrane NA 0 PE1 -NX_Q5TA76 9146 89 8.81 1 NA NA 0 PE1 -NX_Q5TA77 9812 95 8.57 1 NA NA 0 PE1 -NX_Q5TA78 9980 99 8.64 1 NA NA 0 PE1 -NX_Q5TA79 10846 106 8.32 1 NA NA 0 PE1 -NX_Q5TA81 11224 110 8.56 1 NA NA 0 PE1 -NX_Q5TA82 11180 110 8.54 1 NA NA 0 PE1 -NX_Q5TA89 18226 166 9.52 1 Cytosol;Nucleus speckle;Nucleoplasm;Nucleus NA 0 PE2 -NX_Q5TAA0 63361 569 5.29 1 NA NA 0 PE1 -NX_Q5TAB7 13906 128 4.42 6 Nucleus Spondylocostal dysostosis 6, autosomal recessive 0 PE1 -NX_Q5TAG4 31307 269 4.67 1 Cytoplasm NA 0 PE2 -NX_Q5TAH2 129053 1124 6.5 1 Membrane NA 15 PE1 -NX_Q5TAP6 87188 766 6.7 13 Nucleolus NA 0 PE1 -NX_Q5TAQ9 66852 597 5.21 1 Cytoplasm;Nucleus;Nucleoplasm;Cytosol Giant axonal neuropathy 2, autosomal dominant 0 PE1 -NX_Q5TAT6 69950 717 9.27 10 Cell membrane;Postsynaptic cell membrane Myasthenic syndrome, congenital, 19 1 PE1 -NX_Q5TAX3 185166 1644 8.3 1 Nucleolus;Cytosol;Nucleus;Cytoplasm NA 0 PE1 -NX_Q5TB30 92960 811 8.91 1 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q5TB80 161943 1403 5.36 6 Cell membrane;Cytosol;Centriole;Spindle;Nucleus NA 0 PE1 -NX_Q5TBA9 338875 3013 5.66 13 Spindle pole;Centrosome;Cytoplasm NA 0 PE1 -NX_Q5TBB1 35139 312 9.19 13 Nucleus;Nucleus Aicardi-Goutieres syndrome 2 0 PE1 -NX_Q5TBC7 17725 163 4.33 1 NA NA 0 PE1 -NX_Q5TBE3 11254 101 9.26 9 NA NA 0 PE1 -NX_Q5TBK1 28981 243 10.07 13 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q5TC04 10240 95 6.05 1 NA NA 0 PE5 -NX_Q5TC12 36437 328 8.12 1 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q5TC63 38554 336 9 13 NA NA 0 PE1 -NX_Q5TC79 56055 503 6.3 1 Nucleus;Nucleus;Cytosol;Nucleolus NA 0 PE1 -NX_Q5TC82 125736 1133 6.86 1 Cytosol;Cell membrane;P-body;Cytoplasmic granule NA 0 PE1 -NX_Q5TC84 51252 451 5.81 6 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q5TCH4 59246 519 9.21 1 Microsome membrane;Endoplasmic reticulum membrane NA 0 PE1 -NX_Q5TCM9 11795 118 8.75 1 NA NA 0 PE1 -NX_Q5TCQ9 165608 1506 8.17 1 Nucleus;Cell junction;Tight junction;Cell membrane NA 0 PE1 -NX_Q5TCS8 221413 1911 4.96 6 Nucleus membrane;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q5TCX8 113927 1036 8.97 1 Cell membrane;Cytosol NA 0 PE1 -NX_Q5TCY1 142737 1321 5.46 6 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q5TCZ1 125289 1133 9.01 10 Podosome;Cytoplasm NA 0 PE1 -NX_Q5TD94 80733 716 4.38 6 Cilium axoneme;Cilium;Nucleus Ciliary dyskinesia, primary, 11 0 PE1 -NX_Q5TD97 32720 284 7.77 6 Nucleus NA 0 PE1 -NX_Q5TDH0 44523 399 4.95 1 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q5TDP6 57278 509 5.96 6 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q5TEA3 132287 1177 6.11 20 Mitochondrion;Nucleolus;Cytosol NA 0 PE1 -NX_Q5TEA6 77964 688 9.25 20 Membrane NA 1 PE1 -NX_Q5TEC3 60461 545 6.88 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5TEJ8 72049 643 5.77 1 Golgi apparatus NA 0 PE1 -NX_Q5TEU4 38918 345 6.14 20 Mitochondrion inner membrane Mitochondrial complex I deficiency;Leigh syndrome 0 PE1 -NX_Q5TEV5 9093 83 9.72 1 Secreted NA 0 PE3 -NX_Q5TEZ4 8388 76 8.84 6 NA NA 0 PE5 -NX_Q5TEZ5 38553 329 6.49 6 Nucleoplasm NA 0 PE1 -NX_Q5TF21 103199 947 5.81 6 Cytosol;Membrane;Nucleus NA 1 PE1 -NX_Q5TF39 56218 518 5.27 6 Cytoskeleton;Apical cell membrane NA 12 PE1 -NX_Q5TF58 57328 517 4.86 1 Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q5TFE4 51845 455 5.94 6 NA NA 0 PE1 -NX_Q5TFG8 24665 222 10.32 6 NA NA 0 PE1 -NX_Q5TFQ8 43359 398 7.7 20 Membrane NA 1 PE1 -NX_Q5TG30 68908 622 7.7 20 Centrosome;Cytosol;Nucleoplasm;Cell membrane NA 0 PE2 -NX_Q5TG53 16212 156 10.6 1 NA NA 0 PE5 -NX_Q5TG92 13826 126 10.19 1 NA NA 0 PE2 -NX_Q5TGI0 46843 409 5.34 6 Nucleoplasm;Membrane NA 1 PE1 -NX_Q5TGI4 19231 173 9.19 6 Cytoplasmic vesicle NA 0 PE2 -NX_Q5TGJ6 27234 251 4.5 6 NA NA 0 PE1 -NX_Q5TGL8 26560 231 4.94 6 Cell membrane NA 0 PE1 -NX_Q5TGP6 65050 573 5.94 1 NA NA 0 PE1 -NX_Q5TGS1 19968 186 9.74 1 Nucleus;Nucleus NA 0 PE3 -NX_Q5TGU0 19129 170 8.48 6 Endoplasmic reticulum membrane NA 5 PE1 -NX_Q5TGY1 67910 634 5.59 1 Endoplasmic reticulum;Membrane NA 3 PE1 -NX_Q5TGY3 168349 1603 9.21 1 Nucleus Mental retardation, autosomal dominant 25 0 PE1 -NX_Q5TGZ0 8808 78 8.69 1 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 -NX_Q5TH69 240652 2177 5.54 6 Cytoplasm;Secretory vesicle;Secretory vesicle membrane NA 1 PE1 -NX_Q5TH74 36786 334 9.79 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q5THJ4 491916 4388 6.15 1 Cytoplasmic vesicle;Cytosol;Nucleoplasm NA 0 PE1 -NX_Q5THK1 237300 2151 5.93 22 Nucleoplasm NA 0 PE1 -NX_Q5THR3 172930 1501 8.67 22 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q5TI25 105853 921 4.5 1 Cytoplasm NA 0 PE2 -NX_Q5TIA1 141161 1274 6.24 22 Cell membrane;Nucleoplasm NA 0 PE2 -NX_Q5TID7 60103 509 5.7 1 Nucleus speckle;Cytoskeleton;Flagellum NA 0 PE2 -NX_Q5TIE3 133802 1220 8.45 1 Secreted;Cell membrane;Mitochondrion;Cytosol NA 0 PE1 -NX_Q5TKA1 61946 542 9.17 1 Nucleoplasm;Nucleoplasm NA 0 PE1 -NX_Q5TYM5 16619 149 5.54 1 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q5TYW1 122274 1059 8.63 9 Nucleus NA 0 PE1 -NX_Q5TYW2 94048 823 7.97 9 Cell membrane NA 0 PE2 -NX_Q5TYX0 54886 476 8.53 1 NA NA 0 PE2 -NX_Q5TZ20 34890 316 8.85 1 Cell membrane NA 7 PE2 -NX_Q5TZA2 228523 2017 5.45 1 Cell membrane;Centrosome;Centrosome;Cilium basal body;Centriole NA 0 PE1 -NX_Q5TZF3 31810 282 4.59 1 NA NA 0 PE1 -NX_Q5TZJ5 148561 1347 9.07 9 Membrane NA 1 PE3 -NX_Q5TZK3 14773 123 10.66 9 NA NA 0 PE1 -NX_Q5U3C3 33508 297 8.41 X Membrane;Cytoplasmic vesicle;Cell junction NA 7 PE1 -NX_Q5U4N7 28211 250 12.03 20 Mitochondrion NA 0 PE2 -NX_Q5U4P2 41128 390 8.94 16 Membrane NA 1 PE1 -NX_Q5U5Q3 69366 659 4.93 18 Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q5U5R9 88122 776 8.42 10 Nucleoplasm NA 0 PE1 -NX_Q5U5X0 11955 104 9.67 5 Mitochondrion matrix Mitochondrial complex III deficiency, nuclear 8 0 PE1 -NX_Q5U5X8 46792 452 9.2 12 Cell membrane;Focal adhesion;Nucleoplasm;Mitochondrion NA 0 PE2 -NX_Q5U5Z8 104194 902 9.14 11 Cytosol;Centriole;Cilium basal body NA 0 PE1 -NX_Q5U623 75764 682 7.96 16 Nucleus NA 0 PE1 -NX_Q5U649 27626 245 7.73 12 Cytosol;Nucleus NA 0 PE1 -NX_Q5U651 103457 963 8.17 19 Perinuclear region;Golgi stack NA 0 PE1 -NX_Q5UAW9 36623 335 9.27 1 Cell junction;Cell membrane;Nucleolus;Cilium membrane NA 7 PE1 -NX_Q5UCC4 27347 262 5.78 19 Membrane;Secreted NA 1 PE1 -NX_Q5UE93 84258 754 7.58 17 Cytoplasm;Cell membrane NA 0 PE1 -NX_Q5UIP0 274466 2472 5.39 2 Nucleus;Cell membrane;Spindle;Nucleus;Nucleus;Telomere;Chromosome NA 0 PE1 -NX_Q5VIR6 79653 699 5.74 17 Recycling endosome;Golgi apparatus;Cytosol;trans-Golgi network membrane;Endosome membrane Pontocerebellar hypoplasia 2E 0 PE1 -NX_Q5VIY5 60573 522 9.1 19 Nucleus NA 0 PE1 -NX_Q5VSD8 8201 79 9.82 9 NA NA 0 PE4 -NX_Q5VSG8 51317 457 6.47 1 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 -NX_Q5VSL9 95576 837 5.92 1 Cytosol;Cytoplasm NA 0 PE1 -NX_Q5VSP4 17918 162 4.93 9 Secreted NA 0 PE5 -NX_Q5VSR9 8263 72 5.79 X NA NA 0 PE3 -NX_Q5VST6 32215 288 5.89 9 Secreted NA 0 PE1 -NX_Q5VST9 868484 7968 5.69 1 Cell membrane;Cytosol;Z line;Nucleus;Sarcolemma;M line NA 0 PE1 -NX_Q5VSY0 42078 366 8.89 9 Golgi apparatus;Cytosol;Microtubule organizing center NA 0 PE1 -NX_Q5VT03 86276 806 6.98 10 NA NA 0 PE3 -NX_Q5VT06 350930 3117 5.95 1 Centrosome;Centrosome;Spindle;Nucleus;Centriole;Cilium basal body NA 0 PE1 -NX_Q5VT25 197307 1732 6.16 1 Cytoskeleton;Lamellipodium;Cytoplasm NA 0 PE1 -NX_Q5VT28 7388 67 7.82 9 NA NA 0 PE3 -NX_Q5VT33 9515 79 10.54 X NA NA 0 PE4 -NX_Q5VT40 29835 261 9.46 1 Cytoplasmic vesicle;Golgi apparatus NA 0 PE2 -NX_Q5VT52 156020 1461 6.97 1 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q5VT66 37499 337 9.12 1 Mitochondrion outer membrane;Membrane;Mitochondrion NA 1 PE1 -NX_Q5VT79 36879 327 5.56 10 NA NA 0 PE1 -NX_Q5VT97 133230 1194 8.83 1 Nucleolus;Golgi apparatus NA 0 PE1 -NX_Q5VT98 54784 475 8.45 1 NA NA 0 PE3 -NX_Q5VT99 32082 294 4.82 1 Cell membrane NA 1 PE1 -NX_Q5VTA0 54769 474 8.41 1 NA NA 0 PE2 -NX_Q5VTB9 62765 566 5.7 1 Cytoplasm NA 0 PE1 -NX_Q5VTD9 37492 330 9.25 9 Nucleus Bleeding disorder, platelet-type 17 0 PE1 -NX_Q5VTE0 50185 462 9.15 9 Cytoplasm NA 0 PE5 -NX_Q5VTE6 62339 544 8 1 Mitochondrion;Nucleoplasm NA 0 PE1 -NX_Q5VTH2 19293 177 10.09 1 Cilium;Apical cell membrane;Cilium basal body NA 0 PE1 -NX_Q5VTH9 94573 848 5.53 1 NA NA 0 PE1 -NX_Q5VTJ3 84479 777 7.93 1 Membrane;Nucleus speckle NA 1 PE1 -NX_Q5VTL7 78236 733 5.46 1 Nucleoplasm;Cytoskeleton;Secreted NA 0 PE1 -NX_Q5VTL8 64468 546 10.54 1 Nucleus NA 0 PE1 -NX_Q5VTM2 77972 703 8.14 10 NA NA 0 PE2 -NX_Q5VTQ0 76956 682 7.16 9 Endoplasmic reticulum NA 0 PE1 -NX_Q5VTR2 113662 975 5.73 9 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5VTT2 26445 229 6.75 9 Cell membrane;Cytoplasm NA 1 PE1 -NX_Q5VTT5 162189 1437 5.89 1 Cytoplasmic vesicle;M line NA 0 PE1 -NX_Q5VTU8 5807 51 10.15 13 Mitochondrion;Mitochondrion inner membrane NA 0 PE3 -NX_Q5VTY9 57313 493 6.9 1 Golgi apparatus;Endoplasmic reticulum membrane NA 10 PE1 -NX_Q5VU36 148687 1347 9 9 Membrane NA 1 PE3 -NX_Q5VU43 265080 2346 5.32 1 Centrosome;Golgi apparatus;Golgi apparatus NA 0 PE1 -NX_Q5VU57 58230 503 8.66 1 Cytosol;Centriole;Golgi apparatus;Cilium basal body NA 0 PE2 -NX_Q5VU65 210605 1888 7.15 1 Nucleus;Membrane NA 1 PE1 -NX_Q5VU69 12131 101 9.72 1 NA NA 0 PE1 -NX_Q5VU92 51201 463 8.84 X NA NA 0 PE1 -NX_Q5VU97 142290 1274 5.97 1 Nucleolus;Nucleus;Membrane NA 1 PE1 -NX_Q5VUA4 251112 2279 6.78 6 Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q5VUB5 97854 890 6.12 10 Cell membrane;Membrane;Nucleoplasm NA 1 PE1 -NX_Q5VUD6 48583 431 9 9 Cytoplasmic vesicle;Nucleus;Nucleus;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q5VUE5 15483 145 9.03 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q5VUG0 100563 894 6.14 10 Nucleus speckle;Nucleus NA 0 PE1 -NX_Q5VUJ5 73211 663 6.25 10 NA NA 0 PE5 -NX_Q5VUJ6 84588 765 6.11 X Cell membrane;Nucleolus NA 0 PE1 -NX_Q5VUJ9 29714 269 8.92 1 Cell membrane;Cytosol NA 0 PE1 -NX_Q5VUM1 12213 108 9.43 6 Mitochondrion;Mitochondrion matrix;Nucleus NA 0 PE1 -NX_Q5VUR7 94108 823 8.12 9 NA NA 0 PE4 -NX_Q5VUY0 39743 350 7.12 1 NA NA 0 PE2 -NX_Q5VUY2 46082 407 8.54 1 Membrane NA 1 PE3 -NX_Q5VV11 10769 94 11.91 9 NA NA 0 PE5 -NX_Q5VV16 45780 416 9.58 9 Nucleus NA 0 PE3 -NX_Q5VV17 51063 481 5.68 10 Nucleus;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q5VV41 80105 709 6.9 1 Cytoplasm NA 0 PE1 -NX_Q5VV42 65111 579 7.2 6 Cytoplasmic vesicle;Endoplasmic reticulum membrane Diabetes mellitus, non-insulin-dependent 1 PE1 -NX_Q5VV43 117763 1072 5.34 6 Cell membrane;Early endosome membrane Dyslexia 2 1 PE1 -NX_Q5VV52 35681 312 8.12 1 Nucleolus;Nucleus;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q5VV63 152639 1379 7.31 10 Nucleus;Mitochondrion;Membrane NA 1 PE1 -NX_Q5VV67 177544 1664 6.11 10 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q5VVB8 14657 128 5.82 6 Membrane NA 3 PE4 -NX_Q5VVC0 20418 180 9.03 1 NA NA 0 PE2 -NX_Q5VVH5 29106 260 9.07 6 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 -NX_Q5VVJ2 95032 828 5.4 1 Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q5VVM6 91333 783 5.57 1 NA NA 0 PE2 -NX_Q5VVP1 147818 1343 8.99 9 Membrane NA 1 PE3 -NX_Q5VVQ6 38322 348 5.77 1 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA 0 PE1 -NX_Q5VVS0 13926 124 6.89 1 NA NA 0 PE5 -NX_Q5VVW2 112852 1013 7.57 9 Cytoplasmic vesicle NA 0 PE1 -NX_Q5VVX9 37741 321 5.06 1 NA NA 0 PE1 -NX_Q5VVY1 32400 283 6.51 1 Nucleus NA 0 PE1 -NX_Q5VW00 50803 463 9.36 X NA NA 0 PE1 -NX_Q5VW22 73127 663 6.41 10 NA NA 0 PE2 -NX_Q5VW32 46476 411 7.55 1 Membrane;Cytosol;Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q5VW36 200072 1801 6.17 9 Mitochondrion;Membrane;Focal adhesion NA 3 PE1 -NX_Q5VW38 66990 600 6.77 9 trans-Golgi network membrane;Nucleoplasm;Golgi apparatus NA 7 PE1 -NX_Q5VWC8 27520 232 8.76 9 Endoplasmic reticulum membrane NA 6 PE1 -NX_Q5VWG9 103582 929 9.13 10 Nucleoplasm;Nucleus membrane;Nucleus NA 0 PE1 -NX_Q5VWI1 65660 586 9.84 10 NA NA 0 PE2 -NX_Q5VWJ9 49677 437 5.21 9 Nucleolus;Nucleus;Cytosol NA 0 PE1 -NX_Q5VWK0 72239 638 4.84 1 Cytoplasm NA 0 PE2 -NX_Q5VWK5 71722 629 5.32 1 Cell membrane Inflammatory bowel disease 17 1 PE1 -NX_Q5VWM3 55334 479 8.31 1 NA NA 0 PE3 -NX_Q5VWM4 53655 474 5.99 1 NA NA 0 PE2 -NX_Q5VWM5 55420 478 8.82 1 NA NA 0 PE2 -NX_Q5VWM6 54914 474 8.85 1 NA NA 0 PE5 -NX_Q5VWN6 268843 2430 5.61 10 Cytosol;Nucleus NA 0 PE1 -NX_Q5VWP2 44944 391 5.45 1 Nucleoplasm NA 0 PE1 -NX_Q5VWP3 50429 458 5.96 6 Nucleus;PML body;Nucleus envelope;Nucleoplasm;Sarcolemma NA 0 PE1 -NX_Q5VWQ0 90072 802 8.85 1 Nucleus;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q5VWQ8 131625 1189 8.92 9 Cytoplasm;Cell membrane;Membrane;Dendrite NA 0 PE1 -NX_Q5VWT5 82070 728 8.58 1 Membrane raft NA 0 PE1 -NX_Q5VWW1 26719 255 6.29 10 Secreted NA 0 PE1 -NX_Q5VWX1 38927 349 5.94 6 Nucleus NA 0 PE1 -NX_Q5VWZ2 26316 237 7.71 1 Cytosol;Cytosol NA 0 PE1 -NX_Q5VX52 50307 437 8.54 1 NA NA 0 PE2 -NX_Q5VX71 53778 490 4.78 1 Cytoplasmic vesicle;Secreted;Membrane NA 1 PE2 -NX_Q5VXD3 13570 122 4.98 1 Mitochondrion NA 0 PE1 -NX_Q5VXH4 54852 476 8.54 1 NA NA 0 PE2 -NX_Q5VXH5 53627 474 5.99 1 NA NA 0 PE2 -NX_Q5VXI9 45534 398 6.35 10 Secreted Ichthyosis, congenital, autosomal recessive 8 0 PE2 -NX_Q5VXJ0 45563 399 8.39 10 Secreted NA 0 PE2 -NX_Q5VXM1 48752 449 5.81 1 Secreted NA 0 PE2 -NX_Q5VXT5 30156 272 5.4 1 Membrane;Nucleoplasm NA 4 PE1 -NX_Q5VXU1 23831 208 4.94 6 Cytosol;Cell membrane NA 4 PE2 -NX_Q5VXU3 25616 224 4.51 X Cytoplasmic vesicle;Nucleus speckle;Cytoplasmic vesicle;Cell membrane;Cytosol NA 0 PE1 -NX_Q5VXU9 165202 1444 5.1 9 Cytosol;Cytoplasmic vesicle NA 0 PE2 -NX_Q5VY09 33704 327 4.91 1 Cytoplasm;Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q5VY43 110666 1037 6.4 1 Centrosome;Cell membrane;Cell junction;Nucleoplasm NA 1 PE1 -NX_Q5VY80 27509 246 5.96 6 Endoplasmic reticulum;Cell membrane NA 0 PE1 -NX_Q5VYJ5 241008 2156 5.04 10 Cytoplasmic vesicle membrane;Golgi apparatus NA 1 PE1 -NX_Q5VYK3 204291 1845 6.74 9 Cytoplasm;Nucleus;Multivesicular body;Nucleus;Cytoplasmic vesicle;Nucleus;Endosome;Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum;Centrosome NA 0 PE1 -NX_Q5VYM1 117724 1079 7 9 Mitochondrion NA 0 PE2 -NX_Q5VYP0 148706 1347 8.99 9 Membrane NA 1 PE2 -NX_Q5VYS4 34190 303 6.06 13 Cytoplasm NA 0 PE1 -NX_Q5VYS8 171229 1495 6.4 9 Cytoplasm;Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 -NX_Q5VYV0 45581 432 9.55 9 Nucleus NA 0 PE4 -NX_Q5VYV7 45552 408 9.5 20 Cytosol NA 0 PE1 -NX_Q5VYX0 37847 342 6.06 10 Secreted NA 0 PE1 -NX_Q5VYY1 21849 191 9.07 10 Nucleus NA 0 PE1 -NX_Q5VYY2 48233 423 6.64 10 Secreted NA 0 PE2 -NX_Q5VZ03 17614 156 6.9 9 Cytosol NA 0 PE2 -NX_Q5VZ18 53950 495 9.23 1 NA NA 0 PE1 -NX_Q5VZ19 40941 366 8.1 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q5VZ46 126604 1190 9.1 1 Nucleus membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q5VZ52 18731 161 5.58 9 NA NA 0 PE1 -NX_Q5VZ66 98529 844 5.53 10 Golgi apparatus NA 0 PE1 -NX_Q5VZ72 27768 239 8.62 9 Cell membrane NA 1 PE1 -NX_Q5VZ89 212711 1909 6.39 9 Cytosol;Golgi apparatus;Cell membrane;Cytoplasmic vesicle membrane;Cytosol;Cytoplasmic vesicle NA 0 PE1 -NX_Q5VZB9 53125 504 9.15 9 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q5VZE5 83639 725 6.6 9 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q5VZF2 40518 373 8.77 13 Cytoplasm;Nucleus;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q5VZI3 37569 342 5.19 9 Membrane;Cell membrane;Cytosol NA 2 PE1 -NX_Q5VZK9 151557 1371 8.02 6 Cytoplasm;Cytoskeleton;Cell membrane;Lamellipodium;Cytosol NA 0 PE1 -NX_Q5VZL5 172788 1548 6.46 1 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q5VZM2 43250 374 5.85 X Lysosome;Cytoplasm NA 0 PE1 -NX_Q5VZP5 130176 1158 5.1 1 Sarcomere;Nucleoplasm NA 0 PE1 -NX_Q5VZQ5 21545 186 9.79 10 NA NA 0 PE1 -NX_Q5VZR2 79011 741 8.51 9 NA NA 0 PE3 -NX_Q5VZR4 14477 134 5.5 9 Membrane NA 3 PE2 -NX_Q5VZT2 17689 155 10.01 10 NA NA 0 PE2 -NX_Q5VZV1 29565 264 4.85 13 Nucleus NA 0 PE1 -NX_Q5VZV4 19635 182 5.33 9 NA NA 0 PE5 -NX_Q5VZY2 30395 271 8.5 10 Nucleolus;Nucleus;Membrane NA 6 PE1 -NX_Q5W041 96405 872 5.89 10 NA NA 0 PE1 -NX_Q5W064 42388 366 6.11 10 NA NA 0 PE2 -NX_Q5W0A0 81686 696 4.73 13 NA NA 0 PE1 -NX_Q5W0B1 81116 726 5.53 13 Cytoplasm;Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5W0B7 39663 351 9.36 10 Membrane NA 6 PE1 -NX_Q5W0N0 18115 161 8.62 9 Membrane NA 1 PE2 -NX_Q5W0Q7 120440 1092 5.8 13 Cajal body NA 0 PE1 -NX_Q5W0U4 44381 402 5.99 9 Membrane;Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q5W0V3 86558 765 5.13 10 Nucleus speckle;Cytosol NA 0 PE1 -NX_Q5W0Z9 42278 365 7.87 13 Membrane;Cytoplasmic vesicle;Cell membrane;Mitochondrion NA 4 PE1 -NX_Q5W111 21666 196 6.22 13 Cytoplasmic vesicle NA 0 PE1 -NX_Q5W150 15095 140 9.75 20 NA NA 0 PE1 -NX_Q5W186 18135 159 8.18 20 Secreted NA 0 PE2 -NX_Q5W188 17316 147 4.97 20 Secreted NA 0 PE5 -NX_Q5W5W9 19021 173 5.62 2 Secreted;Endoplasmic reticulum;Golgi apparatus NA 0 PE2 -NX_Q5W5X9 50009 447 8.6 15 Cell membrane;Cytosol NA 0 PE1 -NX_Q5XG85 10725 94 11.96 9 NA NA 0 PE5 -NX_Q5XG87 82360 772 9.56 5 Golgi apparatus;Nucleus membrane;Cytoplasm;Nucleoplasm;Nucleoplasm NA 0 PE1 -NX_Q5XG92 63529 561 9.37 16 Cytosol;Secreted NA 0 PE1 -NX_Q5XG99 32066 296 5.99 15 Cytoskeleton;Cytosol;Membrane NA 1 PE2 -NX_Q5XKE5 57836 535 6.75 12 NA NA 0 PE1 -NX_Q5XKK7 21103 198 8.54 15 Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q5XKL5 42793 378 5.68 1 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q5XKP0 13087 118 9.44 19 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane NA 1 PE1 -NX_Q5XKR4 34159 325 9.54 5 Nucleus NA 0 PE1 -NX_Q5XKR9 13109 115 9.64 X NA NA 0 PE2 -NX_Q5XLA6 11868 110 5.34 11 Cytoplasm NA 0 PE1 -NX_Q5XPI4 148515 1314 6.31 3 Cytosol;Cytoplasm NA 0 PE1 -NX_Q5XUX0 60664 539 6.56 16 Golgi apparatus;Nucleoplasm;Cytosol Mental retardation, autosomal recessive 45 0 PE1 -NX_Q5XUX1 54115 488 6.02 19 Cytosol NA 0 PE1 -NX_Q5XX13 119846 1052 9.47 17 Nucleoplasm NA 0 PE1 -NX_Q5XXA6 114078 986 8.76 11 Cytoplasm;Cell membrane NA 8 PE1 -NX_Q5Y7A7 30008 266 6.51 6 Cell membrane;Late endosome membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane NA 1 PE1 -NX_Q5YKI7 12309 109 5.3 6 Membrane;Cytoplasm;Golgi apparatus NA 0 PE5 -NX_Q5ZPR3 57235 534 4.77 15 Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q60I27 107748 953 5.75 3 Cytoplasm NA 0 PE1 -NX_Q629K1 9683 86 9.36 8 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q63HK3 110941 967 8.68 16 Nucleus;Nucleoplasm;Nucleolus;Golgi apparatus NA 0 PE1 -NX_Q63HK5 118566 1081 6.83 19 Nucleus;Mitochondrion;Nucleus;Nucleoplasm;Growth cone NA 0 PE1 -NX_Q63HM1 33992 303 5.57 17 Mitochondrion;Cytosol;Nucleus NA 0 PE1 -NX_Q63HM2 132702 1172 5.88 14 Nucleus;Cytosol;Membrane;Cytoplasm NA 15 PE1 -NX_Q63HM9 36313 321 5.87 5 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q63HN1 61860 556 7.14 9 NA NA 0 PE5 -NX_Q63HN8 591407 5207 6.05 17 Cytosol;Cytosol Moyamoya disease 2 0 PE1 -NX_Q63HQ0 34280 302 4.79 4 Cell membrane;Golgi apparatus;trans-Golgi network;Late endosome;Early endosome;Golgi apparatus NA 0 PE1 -NX_Q63HQ2 111271 1017 7.24 5 Extracellular matrix;Synapse NA 0 PE1 -NX_Q63HR2 152580 1409 8.67 12 Focal adhesion;Cell membrane NA 0 PE1 -NX_Q63ZE4 60257 541 8.89 11 Membrane NA 11 PE2 -NX_Q63ZY3 91174 851 5.44 19 Mitochondrion;Cytoplasm Palmoplantar keratoderma and woolly hair 0 PE1 -NX_Q63ZY6 34347 315 9.01 7 NA NA 0 PE5 -NX_Q641Q2 147184 1341 4.69 10 Cell membrane;Early endosome membrane NA 0 PE1 -NX_Q641Q3 34398 311 8.72 17 Secreted NA 0 PE1 -NX_Q643R3 57219 524 9.17 15 Endoplasmic reticulum membrane NA 2 PE1 -NX_Q64ET8 30490 278 7.6 4 Nucleus NA 0 PE2 -NX_Q64LD2 60161 544 9.21 14 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q658K8 14137 133 5.94 13 NA NA 0 PE5 -NX_Q658L1 45933 398 9.12 15 Golgi apparatus;Nucleoplasm NA 0 PE2 -NX_Q658N2 65694 575 9.34 17 Nucleoplasm;Golgi apparatus;Membrane NA 1 PE1 -NX_Q658P3 54601 488 8.86 2 Nucleolus;Cytosol;Endosome membrane Anemia, hypochromic microcytic, with iron overload 2 6 PE1 -NX_Q658T7 50084 463 10.2 8 NA NA 0 PE5 -NX_Q658Y4 93909 838 5.95 8 Cytoskeleton;Nucleoplasm NA 0 PE1 -NX_Q659A1 110011 982 6.69 15 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q659C4 105322 914 7.33 4 Nucleus;Cytosol NA 0 PE1 -NX_Q66GS9 133490 1140 5.87 4 Centriole Microcephaly 8, primary, autosomal recessive 0 PE1 -NX_Q66K14 140525 1250 5.14 5 Nucleolus;Cell membrane;Membrane;Nucleus NA 1 PE1 -NX_Q66K41 44107 422 10.42 17 Nucleus NA 0 PE1 -NX_Q66K64 66463 600 6.14 19 Mitochondrion;Cytoplasmic vesicle NA 0 PE1 -NX_Q66K66 39475 360 9.97 2 Membrane;Cell membrane;Cytoplasmic vesicle;Cytoplasmic vesicle NA 7 PE1 -NX_Q66K74 112211 1059 6.93 19 Nucleus;Cytosol;Cytosol;Cytoskeleton;Spindle NA 0 PE1 -NX_Q66K79 73655 652 8.22 4 Extracellular matrix NA 0 PE1 -NX_Q66K80 24494 236 10.2 1 NA NA 0 PE5 -NX_Q66K89 83496 784 5.91 16 Nucleoplasm;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q66LE6 52042 453 5.96 10 Cytoplasm NA 0 PE1 -NX_Q66PJ3 44915 421 10.93 12 Nucleolus;Nucleus speckle NA 0 PE1 -NX_Q674R7 101019 924 8.62 7 Autophagosome membrane NA 6 PE1 -NX_Q674X7 86351 775 6.57 1 Cytosol;Cytoskeleton;Nucleoplasm;Nucleus;Desmosome;Cytoplasm NA 0 PE1 -NX_Q676U5 68265 607 6.2 2 Cytosol;Cytoplasm;Preautophagosomal structure membrane Inflammatory bowel disease 10 0 PE1 -NX_Q67FW5 40713 361 6.97 17 Nucleolus NA 0 PE1 -NX_Q684P5 80056 730 6.22 17 Cytosol;Cytoplasm;Perinuclear region;Nucleus membrane NA 0 PE1 -NX_Q685J3 451741 4493 4.03 7 Secreted;Cell membrane;Cell membrane NA 1 PE1 -NX_Q687X5 51981 459 9.39 7 Golgi apparatus;Cell membrane;Early endosome membrane;Golgi apparatus membrane NA 6 PE1 -NX_Q68BL7 73054 652 7.89 9 Cytosol;Nucleoplasm;Secreted NA 0 PE1 -NX_Q68BL8 83999 750 5.07 1 Cytosol;Secreted NA 0 PE1 -NX_Q68CJ6 91132 796 8.85 8 Nucleus speckle NA 0 PE2 -NX_Q68CJ9 49077 461 4.99 19 Endoplasmic reticulum membrane;Nucleus NA 1 PE1 -NX_Q68CK6 64271 577 8.5 16 Mitochondrion matrix NA 0 PE1 -NX_Q68CL5 33318 300 6.25 18 Cytoskeleton;Nucleolus NA 0 PE1 -NX_Q68CP4 73293 663 8.69 8 Lysosome membrane Retinitis pigmentosa 73;Mucopolysaccharidosis 3C 11 PE1 -NX_Q68CP9 197391 1835 7.08 12 Nucleoplasm;Cell membrane;Nucleus NA 0 PE1 -NX_Q68CQ1 145647 1323 6.51 1 Membrane NA 2 PE1 -NX_Q68CQ4 87055 756 5.6 1 Nucleus;Nucleolus;Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q68CQ7 41935 371 9.37 3 Mitochondrion;Membrane NA 1 PE1 -NX_Q68CR1 128567 1132 6.87 4 Nucleus;Membrane NA 1 PE1 -NX_Q68CR7 97778 880 6.01 4 Membrane NA 2 PE2 -NX_Q68CZ1 151201 1315 5.21 16 Cell membrane;Cytoplasm;Cilium basal body;Tight junction;Centrosome;Cilium axoneme;Cytosol Meckel syndrome 5;COACH syndrome;Joubert syndrome 7 0 PE1 -NX_Q68CZ2 155266 1445 6.34 7 Focal adhesion;Focal adhesion NA 0 PE1 -NX_Q68CZ6 69650 603 5.4 4 Centrosome;Spindle;Mitochondrion;Cytoskeleton NA 0 PE1 -NX_Q68D06 102045 897 6.55 17 Cytoskeleton NA 0 PE1 -NX_Q68D10 75599 685 9.79 11 Nucleolus;Nucleus;Nucleus;Nucleolus;Nucleolus NA 0 PE1 -NX_Q68D20 20909 193 5.15 7 NA NA 0 PE1 -NX_Q68D42 25806 235 5.23 9 Membrane NA 2 PE2 -NX_Q68D51 106865 928 8.75 1 Nucleus NA 0 PE1 -NX_Q68D85 50827 454 5.39 11 Cell membrane NA 1 PE1 -NX_Q68D86 60448 513 5.71 18 Mitochondrion;Cytosol NA 0 PE1 -NX_Q68D91 31372 279 6.41 5 Nucleus;Nucleus NA 0 PE1 -NX_Q68DA7 157578 1419 8.67 15 Cytosol;Nucleoplasm;Nucleus;Cytoplasm;Adherens junction;Cell membrane NA 0 PE1 -NX_Q68DC2 92219 871 6.91 9 Cytoplasm;Nucleolus;Nucleus;Cilium;Cytosol Nephronophthisis 16 0 PE1 -NX_Q68DD2 95082 849 5.28 15 Lysosome membrane;Nucleus;Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q68DE3 241681 2245 7.41 3 Centrosome;Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q68DH5 81172 695 7.25 5 Membrane;Cytosol;Nucleoplasm NA 9 PE1 -NX_Q68DI1 59613 518 8.68 19 Nucleus;Nucleus;Cytosol NA 0 PE1 -NX_Q68DK2 284576 2539 5.97 14 Midbody;Centrosome Spastic paraplegia 15, autosomal recessive 0 PE1 -NX_Q68DK7 67128 614 9.1 17 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q68DL7 77230 685 9.83 18 Mitochondrion NA 0 PE1 -NX_Q68DN1 224321 1984 10.09 2 Nucleus NA 0 PE1 -NX_Q68DQ2 330633 2970 5.1 3 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q68DU8 49138 428 8.4 5 Postsynaptic cell membrane;Nucleus speckle;Presynaptic cell membrane NA 0 PE1 -NX_Q68DV7 85722 783 8.1 17 Endoplasmic reticulum membrane;Cell membrane;Nucleus envelope Sessile serrated polyposis cancer syndrome 1 PE1 -NX_Q68DX3 144282 1309 6.29 10 Cytoplasm;Basolateral cell membrane;Tight junction NA 0 PE1 -NX_Q68DY1 60893 528 9.29 19 Nucleus;Nucleus membrane;Cytoplasmic vesicle;Nucleoplasm NA 0 PE2 -NX_Q68DY9 55367 489 7.78 19 Cytosol;Nucleus NA 0 PE1 -NX_Q68E01 118070 1043 5.53 1 Nucleolus;Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q68EA5 64428 555 9.06 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q68EM7 95437 881 7.22 16 Cell membrane;Cytoplasm;Membrane;Cytoplasm;Nucleus;Tight junction;Cytosol NA 0 PE1 -NX_Q68EN5 53446 471 9.27 16 Nucleoplasm;Cytoplasmic vesicle NA 0 PE2 -NX_Q68G74 39301 356 8.61 1 Nucleus;Cytosol;Nucleus;Nucleolus NA 0 PE1 -NX_Q68G75 20326 181 8.74 1 Nucleolus;Membrane;Cytosol NA 1 PE1 -NX_Q68J44 25336 220 5.68 10 Cytoplasm NA 0 PE1 -NX_Q69383 11828 105 10.22 7 Nucleolus;Cytoplasm NA 0 PE1 -NX_Q69384 79218 699 9.14 7 Virion;Cell membrane;Cell membrane NA 1 PE1 -NX_Q693B1 25887 232 6.2 17 Nucleoplasm NA 0 PE1 -NX_Q695T7 71110 634 4.92 5 Membrane Hyperglycinuria;Hartnup disorder;Iminoglycinuria 12 PE1 -NX_Q69YG0 16991 159 8.97 3 Membrane NA 4 PE2 -NX_Q69YH5 112676 1023 8.71 8 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q69YI7 35164 327 6.73 9 Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q69YL0 10891 99 12 3 NA NA 0 PE1 -NX_Q69YN2 60619 538 6.87 10 Golgi apparatus;Nucleoplasm Spinocerebellar ataxia, autosomal recessive, 17 0 PE1 -NX_Q69YN4 202025 1812 4.9 8 Nucleoplasm;Nucleus speckle;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q69YQ0 124602 1117 5.52 22 Cytoskeleton;Spindle;Cytoskeleton;Gap junction Opitz GBBB syndrome 2;Facial clefting, oblique, 1 0 PE1 -NX_Q69YU3 52636 496 9.5 1 Cytosol NA 0 PE1 -NX_Q69YU5 8023 71 9.21 12 Secreted;Mitochondrion;Cell membrane;Centrosome NA 0 PE1 -NX_Q69YW2 15007 141 6.7 1 Cell membrane;Membrane NA 2 PE1 -NX_Q69YZ2 32750 307 11.44 1 Membrane NA 2 PE2 -NX_Q6A162 48139 431 4.35 17 NA NA 0 PE1 -NX_Q6A163 55651 491 5.19 17 NA NA 0 PE1 -NX_Q6A1A2 44765 396 8.61 16 Cytoplasm;Membrane NA 0 PE5 -NX_Q6A555 14575 127 9.56 9 Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q6AHZ1 166782 1483 9.38 10 Nucleus;Nucleus NA 0 PE1 -NX_Q6AI08 128781 1181 6.64 17 Mitochondrion NA 0 PE1 -NX_Q6AI12 41088 368 4.88 17 Cytosol;Golgi apparatus NA 0 PE1 -NX_Q6AI14 89814 798 8.76 2 Nucleoplasm;Cell membrane;Basolateral cell membrane;Cytoplasmic granule membrane;Apical cell membrane NA 10 PE2 -NX_Q6AI39 115084 1079 6.38 6 Nucleoplasm NA 0 PE1 -NX_Q6AW86 60602 544 9.78 19 Cytosol;Nucleus;Nucleolus NA 0 PE1 -NX_Q6AWC2 133891 1192 5.4 4 Cytoskeleton NA 0 PE1 -NX_Q6AWC8 16804 147 9.84 11 NA NA 0 PE5 -NX_Q6AZW8 38270 331 9.46 3 Nucleolus;Nucleus;Cytosol NA 0 PE1 -NX_Q6AZY7 65137 606 6.08 8 Endoplasmic reticulum;Endoplasmic reticulum membrane;Golgi apparatus membrane NA 1 PE1 -NX_Q6AZZ1 56259 485 6.07 11 Perinuclear region;Nucleus;Nucleus;Cytosol NA 0 PE1 -NX_Q6B0B8 52027 471 7.12 11 Nucleus;Nucleus membrane;Nucleoplasm NA 0 PE2 -NX_Q6B0I6 58603 523 9.28 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6B0K9 15618 141 6.12 16 NA NA 0 PE1 -NX_Q6B8I1 20658 188 7.08 10 Cytoplasm NA 0 PE1 -NX_Q6B9Z1 13885 124 6.06 19 Cytosol;Secreted NA 0 PE2 -NX_Q6BAA4 46904 426 9.16 1 Cytoplasm;Endoplasmic reticulum;Cytosol NA 0 PE1 -NX_Q6BCY4 31458 276 8.49 11 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q6BDI9 26571 236 6.89 12 Early endosome membrane NA 0 PE1 -NX_Q6BDS2 159485 1440 5.75 6 Cytoplasm;Cytosol;Nucleus membrane;Nucleoplasm NA 0 PE1 -NX_Q6BEB4 41964 398 9.43 2 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q6DCA0 34499 310 9.18 2 Nucleus;Cytosol NA 0 PE1 -NX_Q6DD87 40543 383 8.08 19 Nucleus;Mitochondrion;Nucleus;Nucleolus NA 0 PE1 -NX_Q6DD88 60542 541 5.43 11 Endoplasmic reticulum membrane;Endoplasmic reticulum Neuropathy, hereditary sensory, 1F 2 PE1 -NX_Q6DHV5 122955 1058 6.68 10 Nucleolus NA 0 PE2 -NX_Q6DHV7 40264 355 5.89 15 Cytoskeleton NA 0 PE1 -NX_Q6DHY5 62231 549 9.2 17 Cell membrane NA 0 PE2 -NX_Q6DJT9 55909 500 8.84 8 Nucleus;Nucleus speckle NA 0 PE1 -NX_Q6DKI1 28661 246 10.51 6 Nucleolus;Mitochondrion NA 0 PE1 -NX_Q6DKI2 39607 356 9.36 17 NA NA 0 PE1 -NX_Q6DKI7 34344 326 9.27 7 Cell membrane;Nucleolus;Endoplasmic reticulum NA 3 PE1 -NX_Q6DKJ4 48392 435 4.88 17 Cytosol;Cytosol;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q6DKK2 42457 380 5.57 17 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex III deficiency, nuclear 2 0 PE1 -NX_Q6DN03 21472 193 10.7 1 Chromosome;Nucleus NA 0 PE5 -NX_Q6DN12 99596 878 7.48 15 Nucleoplasm;Cytosol;Membrane NA 2 PE1 -NX_Q6DN14 111624 999 8.39 5 Cytosol;Synaptic vesicle membrane;Nucleoplasm;Recycling endosome;Endoplasmic reticulum membrane NA 2 PE1 -NX_Q6DN72 47748 434 7.53 1 Cell membrane NA 1 PE1 -NX_Q6DN90 108314 963 6.49 3 Cytoplasm;Nucleus;Nucleolus;Cytoplasmic vesicle NA 0 PE1 -NX_Q6DRA6 18018 164 10.6 1 Nucleus;Chromosome NA 0 PE5 -NX_Q6DT37 172459 1551 5.91 11 Cytoplasm;Cytosol NA 0 PE1 -NX_Q6DWJ6 40679 353 9.43 16 Cell membrane NA 7 PE2 -NX_Q6E0U4 47082 476 6.8 19 Secreted;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q6E213 38094 333 9.42 X Endoplasmic reticulum membrane NA 3 PE1 -NX_Q6EBC2 18205 164 5.28 12 Secreted NA 0 PE1 -NX_Q6ECI4 82650 717 8.91 19 Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6EEV4 15131 148 8.68 15 NA NA 0 PE1 -NX_Q6EEV6 10685 95 6.57 6 NA NA 0 PE1 -NX_Q6EIG7 23998 209 5.86 12 Membrane NA 1 PE1 -NX_Q6EKJ0 107233 949 5.62 7 Nucleus NA 0 PE1 -NX_Q6EMB2 143577 1281 8.82 14 Nucleus envelope;Cell membrane;Cytosol;Cilium basal body;Nucleus;Cytoplasm;Cilium Cone-rod dystrophy 19 0 PE1 -NX_Q6EMK4 71713 673 7.16 16 Membrane;Secreted NA 1 PE1 -NX_Q6F5E7 14331 133 8.23 3 NA NA 0 PE2 -NX_Q6F5E8 154689 1435 6.31 16 Cytoplasm;Cell membrane;Cytoskeleton;Lamellipodium;Ruffle NA 0 PE1 -NX_Q6FHJ7 39827 346 9.12 7 Secreted Pyle disease 0 PE1 -NX_Q6FI13 14095 130 10.9 1 Nucleus;Chromosome NA 0 PE1 -NX_Q6FI81 33582 312 5.44 16 Cytoplasm;Mitochondrion;Cytoplasm;Nucleus;Mitochondrion;Mitochondrion intermembrane space NA 0 PE1 -NX_Q6FIF0 22555 208 6.87 15 Cytoplasm NA 0 PE1 -NX_Q6GMR7 58304 532 9.2 X Membrane NA 1 PE1 -NX_Q6GMV1 21132 187 4.96 3 NA NA 0 PE2 -NX_Q6GMV2 47341 418 4.98 2 Mitochondrion NA 0 PE1 -NX_Q6GMV3 15805 140 9.2 2 Nucleoplasm NA 0 PE1 -NX_Q6GPH4 34626 301 8.57 17 Mitochondrion;Cytoplasm;Cytoplasm;Nucleus;Mitochondrion;Nucleus NA 0 PE1 -NX_Q6GPH6 63395 555 6 2 Membrane NA 1 PE1 -NX_Q6GPI1 27923 263 7.98 16 Extracellular space NA 0 PE1 -NX_Q6GQQ9 92526 843 6.27 1 Nucleus;Cytoplasm;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q6GTS8 55741 502 6.2 1 Secreted NA 0 PE1 -NX_Q6GTX8 31412 287 5.4 19 Cell membrane;Cell membrane NA 1 PE1 -NX_Q6GV28 25828 225 8.4 11 Acrosome membrane NA 4 PE2 -NX_Q6GYQ0 229832 2036 5.79 14 Cytoplasm;Mitochondrion;Cytosol;Nucleus NA 0 PE1 -NX_Q6H3X3 37106 334 6.88 6 Cytoplasmic vesicle;Cell membrane;Endoplasmic reticulum;Secreted NA 1 PE1 -NX_Q6H8Q1 67812 611 8.29 4 Nucleoplasm;Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q6H9L7 63906 571 4.7 14 Nucleoplasm;Secreted NA 0 PE1 -NX_Q6HA08 45936 431 7.67 2 Cytoplasm;Secretory vesicle;Cell membrane;Cytoplasmic granule NA 0 PE1 -NX_Q6I9Y2 23743 204 5.47 3 Cytosol;Nucleus speckle;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 -NX_Q6IA17 45679 410 6.02 11 Membrane;Nucleolus;Cytosol NA 1 PE1 -NX_Q6IA69 79285 706 6.02 11 Cytosol NA 0 PE1 -NX_Q6IA86 92500 826 5.6 18 Cytosol;Nucleus;Cytoplasm;Nucleus Mental retardation, autosomal recessive 48 0 PE1 -NX_Q6IAA8 17745 161 5.01 11 Cell membrane;Cell membrane;Golgi apparatus;Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane NA 0 PE1 -NX_Q6IAN0 35119 325 9.59 17 Cytosol;Endoplasmic reticulum membrane;Cell junction;Cell membrane NA 1 PE1 -NX_Q6IB77 33924 296 8.38 11 Mitochondrion NA 0 PE1 -NX_Q6IBS0 39548 349 6.37 3 Cytoskeleton;Perinuclear region;Stereocilium;Cell membrane NA 0 PE1 -NX_Q6IBW4 68227 605 4.66 22 Nucleoplasm;Cytoskeleton;Nucleus;Chromosome NA 0 PE1 -NX_Q6IC83 27691 251 5.02 22 NA NA 0 PE2 -NX_Q6IC98 66408 578 8.98 22 Mitochondrion membrane NA 3 PE1 -NX_Q6ICB0 18263 168 4.86 22 Cytosol;Cytoskeleton;Nucleus;Cytoplasm NA 0 PE1 -NX_Q6ICB4 28338 259 6.66 22 Early endosome;Recycling endosome;trans-Golgi network;Clathrin-coated vesicle NA 0 PE1 -NX_Q6ICC9 26154 239 11.18 22 Nucleus speckle;Cytosol NA 0 PE1 -NX_Q6ICG6 45794 404 8.06 22 Nucleus membrane;Mitochondrion NA 0 PE1 -NX_Q6ICG8 31909 309 7.66 22 NA NA 0 PE1 -NX_Q6ICH7 41699 369 7.47 22 Membrane NA 1 PE1 -NX_Q6ICI0 21740 200 8.82 22 Membrane NA 4 PE2 -NX_Q6ICL3 30937 276 5.04 22 Golgi apparatus Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 0 PE1 -NX_Q6ICL7 36747 350 9.66 22 Cytosol;Membrane NA 8 PE1 -NX_Q6IE36 161251 1432 5.16 12 Secreted NA 0 PE2 -NX_Q6IE37 134499 1185 5.17 12 Secreted NA 0 PE2 -NX_Q6IE38 11057 97 9.17 5 Secreted NA 0 PE3 -NX_Q6IE81 95533 842 8.2 4 Cytoplasm;Nucleus;Cilium basal body;Mitochondrion NA 0 PE1 -NX_Q6IED9 27571 249 9.67 7 NA NA 0 PE5 -NX_Q6IEE7 107094 984 5.58 17 Membrane NA 1 PE1 -NX_Q6IEE8 67096 588 8.34 17 Membrane NA 1 PE2 -NX_Q6IEG0 39965 339 6.49 6 Nucleoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q6IEU7 35592 315 8.56 11 Cell membrane NA 7 PE2 -NX_Q6IEV9 35003 310 9.11 11 Cell membrane NA 7 PE2 -NX_Q6IEY1 35074 312 9.04 1 Cell membrane NA 7 PE2 -NX_Q6IEZ7 35595 315 8.71 1 Cell membrane NA 7 PE3 -NX_Q6IF00 36228 324 9.03 1 Cell membrane NA 7 PE2 -NX_Q6IF36 33950 304 7.11 11 Cell membrane NA 7 PE5 -NX_Q6IF42 35820 318 8.74 7 Cell membrane NA 7 PE2 -NX_Q6IF63 34414 320 9.04 11 Cell membrane NA 7 PE2 -NX_Q6IF82 34760 309 8.77 11 Cell membrane NA 7 PE3 -NX_Q6IF99 35029 312 8.92 1 Cell membrane NA 7 PE3 -NX_Q6IFG1 35913 317 9.4 11 Cell membrane NA 7 PE2 -NX_Q6IFH4 35029 312 8.41 2 Cell membrane NA 7 PE2 -NX_Q6IFN5 38279 339 7.14 19 Cell membrane NA 7 PE2 -NX_Q6IMI4 34919 303 6.01 2 Cytoplasm NA 0 PE2 -NX_Q6IMI6 35889 304 6.43 2 Cytoplasm NA 0 PE1 -NX_Q6IMN6 125925 1127 6.28 12 Cytoplasm;Centrosome;Cell membrane;Mitochondrion;Nucleus;Cytosol NA 0 PE1 -NX_Q6IN84 38638 353 8.15 17 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q6IN85 95368 833 4.83 14 Nucleus;Centrosome;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q6IN97 35161 320 5.87 10 NA NA 0 PE5 -NX_Q6IPM2 77298 695 9.15 7 Mitochondrion;Cytoplasm;Nucleoplasm;Cilium membrane;Cytosol NA 0 PE1 -NX_Q6IPR1 10864 90 9.92 12 Mitochondrion;Microtubule organizing center NA 0 PE1 -NX_Q6IPR3 29794 259 7.59 1 Cytosol;Cell membrane NA 0 PE1 -NX_Q6IPT2 27609 247 8.86 19 Nucleolus NA 0 PE1 -NX_Q6IPT4 35892 315 5.05 1 Nucleoplasm NA 0 PE2 -NX_Q6IPU0 33165 288 5.9 9 Nucleolus;Nucleus;Centromere;Nucleus NA 0 PE1 -NX_Q6IPW1 13249 123 11.73 11 Nucleoplasm NA 0 PE2 -NX_Q6IPX1 62187 549 9.24 17 Cell membrane NA 0 PE2 -NX_Q6IPX3 22298 200 5.15 X Nucleus NA 0 PE1 -NX_Q6IQ16 44647 392 6.99 2 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q6IQ19 30216 270 7.7 1 Nucleoplasm;Spindle;Cytoskeleton;Cilium basal body;Cilium axoneme;Centriole;Cytoskeleton;Axon;Cilium;Centrosome NA 0 PE1 -NX_Q6IQ20 45596 393 5.71 7 Cytosol;Membrane NA 0 PE1 -NX_Q6IQ21 80007 691 9.64 15 Nucleus NA 0 PE1 -NX_Q6IQ22 27248 244 8.68 18 Cytoplasmic vesicle;Recycling endosome membrane;Lysosome membrane;Golgi apparatus membrane;Autophagosome NA 0 PE1 -NX_Q6IQ23 127135 1121 9.39 11 Cell junction;Cytosol;Adherens junction;Cytoplasm;Centrosome NA 0 PE1 -NX_Q6IQ26 147096 1287 6.21 11 Golgi apparatus;Golgi apparatus membrane;Cytoplasmic vesicle Epileptic encephalopathy, early infantile, 49 0 PE1 -NX_Q6IQ32 122833 1131 9.3 18 Mitochondrion;Cytosol;Nucleus NA 0 PE1 -NX_Q6IQ49 49742 451 5.77 1 Golgi apparatus;Cytosol;Nucleus speckle;Cell membrane NA 0 PE1 -NX_Q6IQ55 137412 1244 6.54 15 Centriole;Cilium basal body;Cytosol;Nucleus;Cilium Spinocerebellar ataxia 11 0 PE1 -NX_Q6IS14 16773 154 4.85 10 Cytoplasm;Nucleus;Endoplasmic reticulum membrane;Nuclear pore complex NA 0 PE2 -NX_Q6IS24 67751 598 9.07 7 Nucleus;Nucleolus;Golgi apparatus;Golgi apparatus membrane;Nucleus NA 1 PE1 -NX_Q6ISB3 71105 625 6.06 8 Nucleoplasm;Nucleus;Membrane Deafness, autosomal dominant, 28;Ectodermal dysplasia/short stature syndrome 0 PE1 -NX_Q6ISS4 16280 152 5.13 19 Secreted NA 0 PE1 -NX_Q6ISU1 29266 281 6.58 6 Membrane NA 1 PE1 -NX_Q6IV72 87721 752 9.43 7 Nucleus;Nucleus;Cytoplasm NA 0 PE1 -NX_Q6IWH7 105532 933 8.11 2 Cell membrane;Cell junction;Endoplasmic reticulum;Cytosol NA 8 PE1 -NX_Q6J272 36165 317 7.68 9 NA NA 0 PE1 -NX_Q6J4K2 64231 584 8.32 12 Mitochondrion inner membrane NA 13 PE1 -NX_Q6J9G0 47577 422 7.1 12 Cell membrane;Golgi apparatus;Membrane;Nucleus;Cell membrane NA 1 PE1 -NX_Q6JBY9 44504 416 5.34 1 Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q6JEL2 68942 608 5.47 17 Cytoplasm Spermatogenic failure 11 0 PE1 -NX_Q6JQN1 118834 1059 8.33 12 NA NA 0 PE1 -NX_Q6JVE5 21500 192 5.48 9 Secreted NA 0 PE2 -NX_Q6JVE6 20759 187 10.36 9 Secreted NA 0 PE1 -NX_Q6JVE9 19080 175 6.83 9 Secreted NA 0 PE2 -NX_Q6K0P9 55065 492 9.82 1 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 -NX_Q6KB66 50525 452 5.58 12 Cytoskeleton NA 0 PE1 -NX_Q6KC79 316051 2804 8.09 5 Nucleus;Nucleoplasm;Cytoplasmic vesicle Cornelia de Lange syndrome 1 0 PE1 -NX_Q6KCM7 52663 469 8.54 9 Mitochondrion;Cytoplasmic vesicle;Mitochondrion inner membrane NA 6 PE1 -NX_Q6KF10 50662 455 9.1 8 Secreted Microphthalmia, isolated, 4;Klippel-Feil syndrome 1, autosomal dominant;Leber congenital amaurosis 17 0 PE1 -NX_Q6L8G4 14610 156 8.16 11 NA NA 0 PE1 -NX_Q6L8G5 17984 202 8.19 11 NA NA 0 PE2 -NX_Q6L8G8 15150 165 8.05 11 NA NA 0 PE1 -NX_Q6L8G9 11784 129 8.18 11 NA NA 0 PE1 -NX_Q6L8H1 25249 288 8.38 11 NA NA 0 PE1 -NX_Q6L8H2 22106 238 8.32 11 NA NA 0 PE1 -NX_Q6L8H4 24194 278 8.39 11 NA NA 0 PE1 -NX_Q6L8Q7 67352 609 6.11 3 Mitochondrion matrix NA 0 PE1 -NX_Q6L9T8 16688 149 6.27 1 NA NA 0 PE2 -NX_Q6L9W6 114975 998 7.07 12 Golgi apparatus;Cytoplasmic vesicle;Golgi stack membrane NA 1 PE1 -NX_Q6MZM0 131603 1159 6.27 11 Membrane NA 1 PE1 -NX_Q6MZM9 22720 219 4.82 4 Endoplasmic reticulum;Secreted NA 0 PE1 -NX_Q6MZN7 14098 132 7.83 6 NA NA 0 PE2 -NX_Q6MZP7 79494 749 9.22 4 Nucleus;Cytosol NA 0 PE1 -NX_Q6MZQ0 40836 368 6.28 11 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q6MZT1 28962 257 8.79 5 Nucleus;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q6MZW2 93096 842 5.88 5 Mitochondrion;Secreted NA 0 PE1 -NX_Q6MZZ7 76696 669 7.01 2 Nucleoplasm NA 0 PE1 -NX_Q6N021 223811 2002 8.22 4 Nucleoplasm Polycythemia vera;Myelodysplastic syndrome 0 PE1 -NX_Q6N022 307957 2769 6.1 11 Cell membrane;Cell projection;Nucleus;Cytoplasm Tremor, hereditary essential 5 1 PE1 -NX_Q6N043 109285 979 8.51 15 Cytoplasm;Nucleus;Centrosome;Nucleoplasm;Golgi apparatus;Cytosol NA 0 PE1 -NX_Q6N063 38996 350 5.45 12 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q6N069 101462 864 8.06 13 Cytosol NA 0 PE1 -NX_Q6N075 49765 450 7.96 12 Golgi apparatus;Cell membrane NA 12 PE1 -NX_Q6NS38 29322 261 9.68 12 Nucleus;Nucleus NA 0 PE1 -NX_Q6NSI1 35437 321 5.23 16 NA NA 0 PE5 -NX_Q6NSI3 42585 398 9.21 4 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q6NSI4 97554 855 8.65 X Cytoskeleton;Chromosome NA 0 PE1 -NX_Q6NSI8 82007 718 6.5 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q6NSJ0 81087 714 8.6 9 Mitochondrion;Nucleus membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q6NSJ2 71912 640 6.16 19 Nucleus speckle;Cell membrane;Cytosol NA 0 PE1 -NX_Q6NSJ5 90247 796 6.52 19 Endoplasmic reticulum;Cell membrane;Endoplasmic reticulum membrane NA 4 PE1 -NX_Q6NSW5 40514 357 6.09 X NA NA 0 PE5 -NX_Q6NSW7 34615 305 6.11 15 Nucleus NA 0 PE5 -NX_Q6NSX1 28767 233 5.7 13 Cell membrane;Secreted NA 0 PE1 -NX_Q6NSZ9 61474 544 7.82 7 Nucleus;Nucleus;Nucleolus NA 0 PE1 -NX_Q6NT04 63236 549 8.91 16 Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q6NT16 48869 456 5.15 6 Golgi apparatus;Cytosol;Membrane NA 12 PE1 -NX_Q6NT32 63926 575 5.98 16 Secreted NA 0 PE1 -NX_Q6NT46 12785 116 4.37 X NA NA 0 PE1 -NX_Q6NT52 21221 195 8.78 19 Secreted NA 0 PE1 -NX_Q6NT55 61958 531 8.95 19 Endoplasmic reticulum membrane;Microsome membrane Ichthyosis, congenital, autosomal recessive 5 0 PE1 -NX_Q6NT76 47278 420 5.72 8 Nucleus;Cytosol;Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q6NT89 23482 227 11.43 1 Nucleus NA 0 PE2 -NX_Q6NTE8 37743 343 8.98 5 Cytosol;Nucleoplasm;Cell membrane;Nucleus NA 0 PE1 -NX_Q6NTF7 23531 200 9.02 22 P-body;Cytoplasm;Nucleus NA 0 PE1 -NX_Q6NTF9 39202 364 9.48 7 Golgi apparatus;cis-Golgi network membrane NA 5 PE1 -NX_Q6NUI1 23810 221 6.67 17 Cell membrane;Nucleus NA 0 PE5 -NX_Q6NUI2 87835 795 7.74 2 Mitochondrion;Mitochondrion outer membrane NA 2 PE1 -NX_Q6NUI6 82388 762 9.2 22 Extracellular matrix;Secreted NA 0 PE1 -NX_Q6NUJ1 56627 521 7.12 4 Secreted;Cytosol NA 0 PE1 -NX_Q6NUJ2 20623 197 9.85 11 Membrane NA 1 PE1 -NX_Q6NUJ5 63967 590 8.52 10 Nucleoplasm NA 0 PE1 -NX_Q6NUK1 53354 477 6 1 Mitochondrion inner membrane;Mitochondrion NA 6 PE1 -NX_Q6NUK4 29264 255 9.57 10 Endoplasmic reticulum membrane NA 3 PE1 -NX_Q6NUM6 76916 668 5.86 7 NA NA 0 PE2 -NX_Q6NUM9 66820 610 8.54 2 Endoplasmic reticulum membrane;Nucleolus NA 0 PE1 -NX_Q6NUN0 64760 579 8.69 16 Mitochondrion matrix NA 0 PE1 -NX_Q6NUN7 88569 778 9.28 11 Golgi apparatus;Nucleoplasm NA 0 PE2 -NX_Q6NUN9 69136 644 6.41 7 Cytoplasm;Nucleus NA 0 PE1 -NX_Q6NUP7 99452 873 7.96 14 Cytosol;Cytoplasm NA 0 PE1 -NX_Q6NUQ1 90632 792 5.29 7 Cytoplasm;Endoplasmic reticulum membrane;Golgi apparatus NA 0 PE1 -NX_Q6NUQ4 77151 689 9.28 2 Endoplasmic reticulum membrane;Golgi apparatus;Endoplasmic reticulum;Cytosol NA 2 PE1 -NX_Q6NUR6 5133 42 5.4 7 NA NA 0 PE5 -NX_Q6NUS6 66157 607 8.6 10 Endoplasmic reticulum;Cytoskeleton;Membrane Orofaciodigital syndrome 4;Joubert syndrome 18 1 PE1 -NX_Q6NUS8 59151 523 8.2 5 Cytosol;Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q6NUT2 87374 758 9.24 12 Mitochondrion;Nucleus;Membrane Spermatogenic failure 9 11 PE1 -NX_Q6NUT3 52075 480 8.67 19 Mitochondrion;Nucleoplasm;Membrane NA 12 PE1 -NX_Q6NV74 102157 962 8.14 2 Cytoskeleton;Centrosome;Cytoskeleton NA 0 PE1 -NX_Q6NV75 65361 609 7.9 1 Cell membrane NA 7 PE2 -NX_Q6NVH7 24311 229 5.09 19 Nucleus NA 0 PE1 -NX_Q6NVU6 15060 142 5.9 7 NA NA 0 PE1 -NX_Q6NVV0 3805 33 3.31 12 NA NA 0 PE5 -NX_Q6NVV1 12135 102 10.76 14 NA NA 0 PE5 -NX_Q6NVV3 44638 410 5.68 4 Membrane;Golgi apparatus NA 9 PE1 -NX_Q6NVV7 13877 123 8.34 22 Cytosol;Nucleus NA 0 PE1 -NX_Q6NVV9 47181 412 6.34 8 NA NA 0 PE5 -NX_Q6NVY1 43482 386 8.38 2 Nucleoplasm;Mitochondrion;Mitochondrion 3-hydroxyisobutryl-CoA hydrolase deficiency 0 PE1 -NX_Q6NW29 21251 188 5.24 4 Cytoskeleton NA 0 PE1 -NX_Q6NW34 64552 567 9.79 3 Nucleus;Nucleus;Nucleolus;Nucleolus NA 0 PE1 -NX_Q6NW40 47547 437 5.92 5 Nucleoplasm;Cell membrane;Membrane raft NA 0 PE1 -NX_Q6NWY9 99358 871 6.39 12 Cytosol;Nucleus;Nucleus speckle;Nucleoplasm NA 0 PE1 -NX_Q6NX45 55068 483 8.72 15 Cytoskeleton;Cytosol;Nucleus NA 0 PE1 -NX_Q6NX49 81742 715 8.15 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6NXE6 54142 501 5.83 19 Cytosol NA 0 PE1 -NX_Q6NXG1 75585 681 6.24 8 Nucleoplasm;Nucleus;Nucleus NA 0 PE1 -NX_Q6NXN4 28036 242 9.85 7 Membrane NA 3 PE2 -NX_Q6NXP0 66551 572 9.51 3 NA NA 0 PE1 -NX_Q6NXP2 34516 309 6.15 7 Nucleoplasm NA 0 PE2 -NX_Q6NXP6 39880 359 6.2 14 NA NA 0 PE1 -NX_Q6NXR0 50288 463 5.22 19 NA NA 0 PE1 -NX_Q6NXR4 56915 508 6.63 8 Centrosome Mental retardation, autosomal recessive 39 0 PE1 -NX_Q6NXS1 23048 205 4.82 5 NA NA 0 PE1 -NX_Q6NXT1 32505 300 5.84 22 Cytoskeleton;Midbody;Cytoplasm;Midbody;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q6NXT2 15214 135 11.11 12 Chromosome;Nucleus NA 0 PE1 -NX_Q6NXT4 51116 461 9.28 2 Golgi apparatus;trans-Golgi network membrane NA 6 PE1 -NX_Q6NXT6 64260 567 8.56 4 Cytoplasmic vesicle;Centrosome;Cilium basal body;Membrane Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 5 PE1 -NX_Q6NY19 88425 840 5.17 19 Cell membrane NA 0 PE1 -NX_Q6NYC1 46462 403 8.84 17 Nucleoplasm;Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q6NYC8 67943 613 5.38 6 Cytoskeleton;Cell membrane;Nucleoplasm NA 0 PE1 -NX_Q6NZ36 19869 180 6.9 1 Nucleoplasm;Nucleus;Nucleus;Cell junction;Chromosome NA 0 PE1 -NX_Q6NZ63 28815 245 8.82 7 Membrane NA 4 PE2 -NX_Q6NZ67 16226 158 10.16 2 Cytoplasm;Centrosome;Spindle NA 0 PE1 -NX_Q6NZI2 43476 390 5.51 17 Cytoplasmic vesicle;Cell membrane;Cell membrane;Microsome;Endoplasmic reticulum;Cytosol;Mitochondrion;Nucleus;Caveola Congenital generalized lipodystrophy 4 0 PE1 -NX_Q6NZY4 78577 707 4.8 12 Nucleoplasm;Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q6NZY7 15207 148 6.9 19 Endomembrane system;Cytoskeleton NA 0 PE1 -NX_Q6P047 33735 294 7.74 8 Nucleoplasm NA 0 PE1 -NX_Q6P050 27269 247 9.99 15 Nucleolus;Cytosol;Z line NA 0 PE1 -NX_Q6P087 38461 351 10.33 3 Nucleus;Mitochondrion matrix NA 0 PE1 -NX_Q6P093 46099 401 7.2 3 Secreted NA 0 PE2 -NX_Q6P0A1 25167 224 4.95 11 Membrane NA 1 PE1 -NX_Q6P0N0 129085 1132 9.31 14 Cytosol;Nucleolus;Chromosome;Centromere;Nucleus NA 0 PE1 -NX_Q6P0Q8 196436 1798 8.41 1 Cytosol;Cytoskeleton;Cell membrane NA 0 PE1 -NX_Q6P158 155604 1386 7.83 2 Nucleolus;Cytoskeleton;Cytoskeleton;Cytosol NA 0 PE1 -NX_Q6P161 15819 138 9.6 19 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q6P179 110462 960 6.25 5 Mitochondrion;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q6P1A2 56035 487 8.88 12 Endoplasmic reticulum membrane NA 9 PE1 -NX_Q6P1J6 163081 1458 5.57 2 Apical cell membrane;Cytosol NA 1 PE1 -NX_Q6P1J9 60577 531 9.63 1 Cytosol;Nucleus;Nucleus Hyperparathyroidism 2 with jaw tumors;Parathyroid carcinoma;Hyperparathyroidism 1 0 PE1 -NX_Q6P1K1 16419 146 9.66 12 Cytoplasmic vesicle;Endosome membrane;Lysosome membrane NA 4 PE1 -NX_Q6P1K2 23339 205 5.39 1 Nucleus;Nucleoplasm;Cytoplasmic vesicle;Kinetochore;Nucleus NA 0 PE1 -NX_Q6P1K8 44452 395 6.13 5 Nucleus NA 0 PE1 -NX_Q6P1L5 61968 589 9.86 2 Nucleus;Centrosome NA 0 PE1 -NX_Q6P1L6 69220 599 9.19 20 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6P1L8 15948 145 10.26 6 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q6P1M0 72064 643 8.77 9 Cytoplasmic vesicle;Membrane;Endoplasmic reticulum membrane Ichthyosis prematurity syndrome 2 PE1 -NX_Q6P1M3 113448 1020 7.22 17 Cytoplasmic vesicle;Cytoplasm;Cytosol NA 0 PE1 -NX_Q6P1M9 62346 558 8.85 X Cytosol;Nucleus speckle NA 0 PE1 -NX_Q6P1N0 104062 951 8.22 19 Nucleolus;Cell membrane;Cytosol;Cytoplasm;Nucleus;Centrosome Mental retardation, autosomal recessive 3 0 PE1 -NX_Q6P1N9 33602 297 6.51 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6P1Q0 41790 360 10.32 12 Mitochondrion;Mitochondrion outer membrane;Nucleoplasm NA 1 PE1 -NX_Q6P1Q9 43426 378 5.59 7 NA NA 0 PE1 -NX_Q6P1R3 61319 559 5.86 11 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6P1R4 53230 473 8.65 17 Cell membrane NA 0 PE1 -NX_Q6P1S2 33765 294 9.85 3 Nucleoplasm;Cytosol;Membrane;Secreted NA 1 PE1 -NX_Q6P1W5 65353 598 8.56 1 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q6P1X5 136971 1199 8.45 8 Nucleus Mental retardation, autosomal recessive 40 0 PE1 -NX_Q6P1X6 23889 216 9.36 8 Nucleus NA 0 PE1 -NX_Q6P280 65865 563 8.54 19 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6P2C0 77378 686 5.99 15 Cytoskeleton NA 0 PE1 -NX_Q6P2C8 35432 311 9.37 9 Cytosol;Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q6P2D0 47516 407 8.85 16 Nucleus;Nucleus NA 0 PE1 -NX_Q6P2D8 89864 792 9.06 11 Nucleus;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q6P2E9 151661 1401 5.55 16 Cytosol;P-body;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6P2H3 85639 762 5.68 1 Golgi apparatus;Cytosol;Nucleolus;Nucleolus;Centrosome;Spindle pole NA 0 PE1 -NX_Q6P2H8 31630 277 8.81 1 Golgi apparatus;Focal adhesion;Membrane NA 1 PE1 -NX_Q6P2I3 34613 314 7.64 2 NA NA 0 PE1 -NX_Q6P2I7 30450 272 9.2 3 Nucleoplasm;Nucleus NA 0 PE2 -NX_Q6P2M8 38500 343 6.28 X Cell membrane;Cytoplasm;Nucleus;Golgi apparatus;Cytosol NA 0 PE1 -NX_Q6P2P2 94501 845 5.12 4 Nucleoplasm;Cytosol;Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q6P2Q9 273600 2335 8.95 17 Nucleus speckle;Nucleoplasm Retinitis pigmentosa 13 0 PE1 -NX_Q6P2S7 151684 1318 8.53 12 Cytoplasm NA 0 PE5 -NX_Q6P387 43418 395 8.79 16 Cytosol;Nucleoplasm NA 0 PE2 -NX_Q6P3R8 81445 708 9.05 13 NA NA 0 PE2 -NX_Q6P3S1 86552 775 5.54 1 Nucleus speckle;Cytosol;Cytosol;Clathrin-coated vesicle Asthma 0 PE1 -NX_Q6P3S6 77839 717 7.07 1 Nucleoplasm NA 0 PE1 -NX_Q6P3V2 87974 769 9.26 19 Nucleus NA 0 PE1 -NX_Q6P3W2 17008 148 4.53 11 Cytoskeleton;Cytosol NA 0 PE1 -NX_Q6P3W6 96426 841 4.63 1 Cytoplasm NA 0 PE2 -NX_Q6P3W7 103709 929 8.45 12 Perinuclear region;Clathrin-coated vesicle;trans-Golgi network membrane;Endosome membrane NA 0 PE1 -NX_Q6P3X3 96632 843 5.42 2 Mitochondrion;Nucleolus NA 0 PE1 -NX_Q6P3X8 68011 592 8.82 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q6P435 17652 159 9.6 16 NA NA 0 PE5 -NX_Q6P444 43384 385 6.53 6 Mitochondrion;Cytoplasmic vesicle NA 0 PE1 -NX_Q6P461 53585 480 8.73 10 Mitochondrion NA 0 PE2 -NX_Q6P474 51810 469 5.65 16 NA NA 0 PE5 -NX_Q6P499 44742 406 8.1 1 Nucleoplasm;Membrane NA 9 PE1 -NX_Q6P4A7 37998 337 9.3 10 Mitochondrion inner membrane;Cytoplasmic vesicle Combined oxidative phosphorylation deficiency 18 5 PE1 -NX_Q6P4A8 63255 553 9.11 12 Lysosome NA 0 PE1 -NX_Q6P4D5 22522 195 9.92 X Nucleoplasm NA 0 PE1 -NX_Q6P4E1 48864 433 5.54 15 Golgi apparatus;Membrane NA 1 PE1 -NX_Q6P4F1 56094 479 8.62 8 Golgi apparatus;Golgi stack membrane;Endoplasmic reticulum;Nucleoplasm NA 1 PE2 -NX_Q6P4F2 19521 183 5.2 19 Mitochondrion;Mitochondrion matrix NA 0 PE1 -NX_Q6P4F7 113866 1023 9.19 15 Nucleolus;Cytosol NA 0 PE1 -NX_Q6P4H8 26110 233 9.04 5 Cell membrane;Cytoplasm;Cytoplasmic vesicle;Nucleus;Membrane NA 1 PE1 -NX_Q6P4I2 41685 378 5.46 15 Cytosol;Spindle;Spindle pole;Cleavage furrow Galloway-Mowat syndrome 0 PE1 -NX_Q6P4Q7 86607 775 5.75 2 Cell membrane;Cell membrane;Cytoskeleton Jalili syndrome 3 PE1 -NX_Q6P4R8 139001 1299 9.29 11 Nucleus;Nucleus NA 0 PE1 -NX_Q6P531 50509 493 5.66 17 Membrane NA 1 PE1 -NX_Q6P575 29908 273 6.54 22 NA NA 0 PE5 -NX_Q6P582 16221 158 9.66 2 Cytoplasm;Centrosome;Spindle NA 0 PE1 -NX_Q6P587 24843 224 6.96 16 Mitochondrion;Nucleus;Mitochondrion;Mitochondrion;Cytosol NA 0 PE1 -NX_Q6P589 20556 184 8.54 1 Cytoplasmic vesicle NA 0 PE1 -NX_Q6P597 55364 504 6.06 19 Cytosol;Nucleoplasm;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q6P5Q4 61675 547 5.63 7 Sarcomere;Myofibril;M line;Cytoskeleton NA 0 PE1 -NX_Q6P5R6 14607 122 9.37 3 NA NA 0 PE1 -NX_Q6P5S2 37926 330 5.78 6 Secreted NA 0 PE1 -NX_Q6P5S7 15420 137 9.21 17 Membrane NA 2 PE1 -NX_Q6P5W5 68408 647 5.27 8 Recycling endosome membrane;Cell membrane Acrodermatitis enteropathica, zinc-deficiency type 6 PE1 -NX_Q6P5X5 16805 142 8.22 22 Endoplasmic reticulum NA 0 PE1 -NX_Q6P5X7 32983 295 6.06 8 Mitochondrion;Membrane NA 2 PE2 -NX_Q6P5Z2 99421 889 8.77 9 Perinuclear region;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q6P656 34294 301 5.84 15 NA NA 0 PE1 -NX_Q6P6B1 39936 374 4.46 8 Nucleoplasm;Golgi apparatus;Cytosol NA 0 PE1 -NX_Q6P6B7 39284 361 6.82 10 Endoplasmic reticulum NA 0 PE1 -NX_Q6P6C2 44256 394 9.19 17 Golgi apparatus;Nucleoplasm;Cytosol;Nucleus speckle NA 0 PE1 -NX_Q6P7N7 28468 255 8.92 1 Membrane;Cytoskeleton NA 1 PE2 -NX_Q6P988 55699 496 7.52 17 Secreted NA 0 PE1 -NX_Q6P995 92181 826 8.79 2 Nucleus;Membrane;Mitochondrion NA 1 PE1 -NX_Q6P996 86707 788 5.25 16 NA NA 0 PE1 -NX_Q6P9A1 68837 599 9.01 19 Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q6P9A2 69561 607 6.07 11 Golgi apparatus membrane;Mitochondrion NA 1 PE1 -NX_Q6P9A3 74439 640 8.88 19 Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q6P9B6 50994 456 5.81 16 Nucleolus;Membrane;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q6P9B9 107995 1019 6.58 11 Cytoplasm;Nucleus membrane;Nucleus;Nucleus NA 3 PE1 -NX_Q6P9F0 77748 684 5.73 12 Nucleoplasm;Cell membrane;Cytoplasm;Nucleus NA 0 PE1 -NX_Q6P9F5 29336 258 7.54 6 NA NA 0 PE1 -NX_Q6P9F7 92390 803 6.4 1 Nucleus speckle;Cell membrane;Endoplasmic reticulum membrane NA 4 PE1 -NX_Q6P9G0 26689 228 5.37 17 Nucleolus;Golgi apparatus NA 0 PE1 -NX_Q6P9G4 20498 183 4.5 4 Membrane;Nucleoplasm;Nucleus membrane NA 1 PE1 -NX_Q6P9G9 59932 518 6.96 X Nucleus;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q6P9H4 61904 555 8.94 6 Cytosol;Mitochondrion NA 0 PE1 -NX_Q6P9H5 32949 292 4.86 7 Cytosol;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q6PB30 8669 78 10.69 X NA NA 0 PE2 -NX_Q6PCB0 46804 445 7.18 1 Basement membrane NA 0 PE1 -NX_Q6PCB5 94870 846 8.91 7 Nucleus speckle;Cell membrane;Nucleus NA 0 PE1 -NX_Q6PCB6 35831 329 5.42 15 NA NA 0 PE1 -NX_Q6PCB7 71108 646 8.83 19 Cell membrane;Endomembrane system;Cytoplasm NA 1 PE1 -NX_Q6PCB8 36881 327 6.13 5 Cell membrane;Synapse NA 1 PE1 -NX_Q6PCD5 85094 774 6.02 16 Nucleoplasm;Cytosol;Cytoplasm;Nucleus;PML body NA 0 PE1 -NX_Q6PCE3 70442 622 6.81 11 Mitochondrion NA 0 PE1 -NX_Q6PCT2 75707 694 9.44 16 Cytoskeleton NA 0 PE1 -NX_Q6PD62 133502 1173 6.32 11 Nucleoplasm;Nucleus speckle NA 0 PE1 -NX_Q6PD74 34594 315 4.5 15 Cytoplasm;Cytosol;Cytosol;Nucleus speckle Keratoderma, palmoplantar, punctate 1A 0 PE1 -NX_Q6PDA7 13842 123 10.54 8 Secreted NA 0 PE2 -NX_Q6PDB4 66762 577 9.45 19 Cytoskeleton NA 0 PE2 -NX_Q6PEV8 42801 388 4.95 X Golgi apparatus;Cytosol;Nucleus NA 0 PE1 -NX_Q6PEW0 43832 395 6.22 16 Secreted NA 0 PE1 -NX_Q6PEW1 45369 402 5.87 X Nucleus NA 0 PE1 -NX_Q6PEX3 22554 210 8.03 21 NA NA 0 PE1 -NX_Q6PEX7 23280 206 5.84 1 Membrane NA 1 PE1 -NX_Q6PEY0 25860 223 8.91 6 Cell membrane;Gap junction NA 4 PE2 -NX_Q6PEY1 17251 159 10.11 17 Cell membrane NA 2 PE1 -NX_Q6PEY2 49859 450 5.01 2 Cytoskeleton NA 0 PE1 -NX_Q6PEZ8 56539 512 9.91 19 Extracellular matrix NA 0 PE1 -NX_Q6PF04 70143 617 9.17 19 Nucleus;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q6PF05 40837 361 6.81 5 Spindle;Midbody;Centrosome NA 0 PE1 -NX_Q6PF06 36124 316 7.05 9 Nucleoplasm;Cell membrane NA 0 PE2 -NX_Q6PF15 62892 583 8.08 11 Nucleus;Nucleolus;Centrosome NA 0 PE1 -NX_Q6PF18 27585 240 8.63 12 Nucleoplasm NA 0 PE1 -NX_Q6PFW1 159521 1433 5.26 15 Cytosol;Cell membrane;Cytosol NA 0 PE1 -NX_Q6PG37 74571 636 8.81 19 Nucleolus;Nucleus NA 0 PE1 -NX_Q6PGN9 38796 363 11.21 1 Cytoplasm;Spindle;Nucleoplasm;Spindle pole;Cytosol NA 0 PE1 -NX_Q6PGP7 175486 1564 7.47 5 Cytosol;Nucleoplasm;Cytoplasm;Nucleus Trichohepatoenteric syndrome 1 0 PE1 -NX_Q6PGQ1 25064 229 3.88 22 Cell membrane;Nucleus;Nucleolus NA 0 PE1 -NX_Q6PGQ7 61203 559 4.8 13 Nucleolus;Nucleus NA 0 PE1 -NX_Q6PH81 17799 154 10.09 16 Nucleoplasm NA 0 PE1 -NX_Q6PH85 30179 259 5.7 13 Cytosol;Cell membrane NA 0 PE1 -NX_Q6PHR2 53444 472 6.91 15 Cytoplasm NA 0 PE1 -NX_Q6PHW0 33360 289 7.16 6 Cell membrane;Cell membrane;Cytoplasmic vesicle membrane Thyroid dyshormonogenesis 4 1 PE1 -NX_Q6PI25 18931 160 6.87 11 Endoplasmic reticulum membrane;Postsynaptic cell membrane;Dendrite;Dendritic spine;Postsynaptic density NA 3 PE1 -NX_Q6PI26 65125 577 4.7 3 Cytosol;Nucleoplasm;Nucleoplasm NA 0 PE1 -NX_Q6PI47 46739 426 9.23 2 Mitochondrion NA 0 PE1 -NX_Q6PI48 73563 645 8.19 1 Mitochondrion;Nucleus;Mitochondrion matrix Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 0 PE1 -NX_Q6PI73 52399 481 7.67 19 Membrane NA 1 PE1 -NX_Q6PI77 60291 547 7.51 X Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q6PI78 25498 240 8.9 8 Nucleoplasm;Cell membrane;Mitochondrion inner membrane NA 3 PE1 -NX_Q6PI97 19340 169 8.9 11 NA NA 0 PE1 -NX_Q6PI98 20643 192 10.03 18 Nucleolus;Nucleus NA 0 PE1 -NX_Q6PID6 29411 262 5.32 5 Nucleoplasm;Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q6PID8 49098 442 9.47 7 Nucleus;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q6PIF2 24690 218 5.57 19 Nucleus;Nucleus NA 0 PE1 -NX_Q6PIF6 241599 2116 8.82 2 Cytoskeleton;Microvillus NA 0 PE1 -NX_Q6PII3 53958 467 6.04 3 Nucleus;Cytoplasm;Nucleolus;Nucleoplasm;Nucleus Hypotonia, infantile, with psychomotor retardation 0 PE1 -NX_Q6PII5 31557 290 8.57 16 NA NA 0 PE1 -NX_Q6PIJ6 133944 1188 5.92 5 Cytosol;Cytoplasm;Nucleus;Nucleoplasm;Cell membrane;Cytoskeleton Neuronopathy, distal hereditary motor, 2D 0 PE1 -NX_Q6PIL6 28729 250 5.12 4 Endoplasmic reticulum;Cytoplasm;Cell membrane NA 0 PE1 -NX_Q6PIS1 64531 610 7.24 2 Nucleus;Cell junction;Membrane NA 12 PE2 -NX_Q6PIU1 56304 500 5.75 8 Cell membrane NA 6 PE1 -NX_Q6PIU2 45808 408 6.76 3 Endoplasmic reticulum;Membrane;Microsome NA 1 PE1 -NX_Q6PIV2 33310 292 9.3 11 Nucleus NA 0 PE1 -NX_Q6PIV7 32224 304 9.28 1 Mitochondrion;Mitochondrion inner membrane NA 6 PE2 -NX_Q6PIW4 74077 674 8.07 7 Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 -NX_Q6PIY5 48855 440 5.56 1 Cytosol NA 0 PE1 -NX_Q6PIY7 56028 484 9.45 5 Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q6PIZ9 21211 186 5.23 3 Cell membrane NA 1 PE1 -NX_Q6PJ21 39376 355 8.74 16 Mitochondrion NA 0 PE1 -NX_Q6PJ61 64631 603 7.19 19 Cytosol;Nucleus;Cytoplasmic vesicle NA 0 PE1 -NX_Q6PJ69 57353 517 6.26 17 Cytosol;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q6PJE2 20620 187 6.81 7 NA NA 0 PE2 -NX_Q6PJF5 96686 856 9.1 17 Endoplasmic reticulum membrane;Cell membrane Tylosis with esophageal cancer 7 PE1 -NX_Q6PJG2 114989 1045 9.26 14 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6PJG6 88119 821 5.11 7 Nucleoplasm;Nucleus;Cytoplasm Rigidity and multifocal seizure syndrome, lethal neonatal 0 PE1 -NX_Q6PJG9 66860 635 6.44 11 Membrane NA 1 PE1 -NX_Q6PJI9 109793 974 8.2 16 Cytosol;Lysosome membrane NA 0 PE1 -NX_Q6PJP8 116400 1040 8.24 10 Nucleoplasm;Nucleus;Nucleolus NA 0 PE1 -NX_Q6PJQ5 35924 311 4.92 X Nucleus;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6PJT7 82876 736 6.99 14 Nucleus speckle;Nucleus speckle;Cytoplasm Mental retardation, autosomal recessive 56 0 PE1 -NX_Q6PJW8 79597 725 4.4 1 Cytoplasmic vesicle;Cell membrane;trans-Golgi network membrane;Secretory vesicle NA 1 PE1 -NX_Q6PK04 33231 289 10.94 17 Nucleolus;Chromosome NA 0 PE1 -NX_Q6PK18 35646 319 8.3 17 Nucleoplasm;Membrane NA 1 PE1 -NX_Q6PK57 11596 102 4.82 15 NA NA 0 PE5 -NX_Q6PK81 50502 442 9.18 19 Nucleus NA 0 PE1 -NX_Q6PKC3 110529 985 6.11 16 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 -NX_Q6PKG0 123510 1096 8.91 5 Cytoplasm;Cytoplasmic granule;Cytoplasm;Cytosol;Endoplasmic reticulum;Nucleus NA 0 PE1 -NX_Q6PKH6 24586 230 10.13 14 Secreted NA 0 PE2 -NX_Q6PKX4 38318 331 8.72 18 Cytosol;Focal adhesion NA 0 PE1 -NX_Q6PL18 158554 1390 5.94 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6PL24 35740 325 4.61 14 NA NA 0 PE1 -NX_Q6PL45 28486 260 6.98 16 Cytoskeleton;Membrane;Nucleoplasm NA 2 PE1 -NX_Q6PML9 63515 568 8.6 4 Cytoplasm;Cytoplasmic vesicle;Endoplasmic reticulum;Membrane;Nucleus Birk-Landau-Perez syndrome 5 PE1 -NX_Q6PP77 52052 449 8.46 X Cell membrane NA 10 PE2 -NX_Q6PRD1 257363 2367 5.54 17 Cell membrane Night blindness, congenital stationary, 1E 7 PE1 -NX_Q6PRD7 25959 247 9.73 16 Nucleus;Cytoplasm NA 0 PE1 -NX_Q6PUV4 15394 134 5.06 5 Cytosol NA 0 PE1 -NX_Q6PXP3 55728 512 8.68 1 Membrane NA 12 PE2 -NX_Q6Q0C0 74609 670 6.77 16 Cytoplasmic vesicle;Cell membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q6Q0C1 33435 308 9.39 14 Mitochondrion inner membrane NA 6 PE2 -NX_Q6Q4G3 113283 990 5.42 5 Membrane NA 1 PE1 -NX_Q6Q6R5 24088 217 8.98 6 Nucleus speckle;Cytoplasm NA 0 PE2 -NX_Q6Q759 251742 2223 5.88 1 Flagellum axoneme;Cytoplasm;Nucleoplasm NA 0 PE1 -NX_Q6Q788 41213 366 5.98 11 Secreted Hypertriglyceridemia, familial;Hyperlipoproteinemia 5 0 PE1 -NX_Q6Q795 13358 121 8.84 3 NA NA 0 PE5 -NX_Q6Q8B3 29920 271 9.31 3 Membrane NA 1 PE2 -NX_Q6QAJ8 17754 160 6.95 17 Membrane NA 5 PE2 -NX_Q6QEF8 52762 472 5.63 17 Golgi apparatus NA 0 PE1 -NX_Q6QHC5 37197 323 9.38 14 Endoplasmic reticulum membrane;Nucleus;Nucleolus NA 3 PE1 -NX_Q6QHF9 70290 649 5.34 10 Cytoplasm;Centrosome;Peroxisome;Nucleoplasm NA 0 PE1 -NX_Q6QHK4 24123 219 7.76 2 Nucleus Premature ovarian failure 6 0 PE1 -NX_Q6QN14 44690 398 6.86 4 Nucleus;Cytoplasm NA 0 PE1 -NX_Q6QNK2 96530 874 8.02 12 Nucleus;Cytosol;Cell membrane NA 7 PE1 -NX_Q6QNY0 21256 202 5.08 19 Golgi apparatus;Cytoplasm Hermansky-Pudlak syndrome 8 0 PE1 -NX_Q6QNY1 15961 142 4.78 10 Lysosome membrane;Centrosome NA 0 PE1 -NX_Q6R2W3 151666 1325 6.29 6 Nucleus;Nucleolus;Golgi apparatus NA 0 PE1 -NX_Q6R327 192218 1708 7.22 5 Mitochondrion NA 0 PE1 -NX_Q6R6M4 59619 530 8.5 8 Nucleus;Endoplasmic reticulum NA 0 PE1 -NX_Q6RFH5 42441 385 8.64 11 Nucleolus;Nucleus;Nucleolus NA 0 PE1 -NX_Q6RFH8 39442 374 11.11 4 Nucleus NA 0 PE1 -NX_Q6RI45 203598 1802 8.02 X Cytosol;Nucleoplasm Mental retardation, X-linked 93 0 PE1 -NX_Q6RSH7 15781 139 6.41 1 NA NA 0 PE1 -NX_Q6RUI8 13085 117 8.49 19 Cell membrane NA 0 PE2 -NX_Q6RVD6 11727 105 10.09 15 NA NA 0 PE1 -NX_Q6RW13 17419 159 5.71 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA 3 PE1 -NX_Q6S545 60965 545 7 22 NA NA 0 PE2 -NX_Q6S5H4 65710 581 6.24 15 NA NA 0 PE2 -NX_Q6S5H5 57096 508 6.66 14 NA NA 0 PE2 -NX_Q6S5L8 68785 630 8.03 15 Postsynaptic cell membrane;Cytosol NA 0 PE1 -NX_Q6S8J3 121363 1075 5.83 2 NA NA 0 PE2 -NX_Q6S8J7 56166 498 6.01 8 NA NA 0 PE2 -NX_Q6S9Z5 40315 364 9.59 5 NA NA 0 PE2 -NX_Q6SA08 37454 328 8.78 14 Cell junction NA 0 PE1 -NX_Q6SJ93 84674 734 8.83 11 Cytosol;Nucleus Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 0 PE1 -NX_Q6SJ96 41524 375 6.05 14 Cytoplasm;Nucleus NA 0 PE1 -NX_Q6SPF0 56052 538 7.13 19 Cytoplasm;Secreted;Mitochondrion;Cytosol NA 0 PE1 -NX_Q6STE5 55016 483 9.38 7 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6SZW1 79388 724 6.14 17 Cytoplasmic vesicle;Dendrite;Synapse;Cytoplasm;Mitochondrion;Axon NA 0 PE1 -NX_Q6T310 27006 242 9.05 13 Nucleus;Nucleolus NA 0 PE1 -NX_Q6T311 20755 187 6.04 4 Mitochondrion;Nucleolus NA 0 PE2 -NX_Q6T423 61008 547 7.53 11 Membrane NA 12 PE2 -NX_Q6T4P5 76037 718 5.66 19 Cytosol;Membrane;Nucleoplasm;Golgi apparatus NA 6 PE1 -NX_Q6T4R5 179135 1651 6.4 X Cytoplasm;Apical cell membrane;Tight junction;Cell junction;Lamellipodium;Focal adhesion Nance-Horan syndrome;Cataract 40 0 PE1 -NX_Q6TCH4 37989 344 8.22 1 Nucleus;Cell membrane;Nucleolus NA 7 PE1 -NX_Q6TCH7 36217 311 8.84 4 Golgi apparatus membrane NA 7 PE1 -NX_Q6TDP4 69874 642 7.64 1 Synapse;Postsynaptic density;Nucleoplasm;Nucleus NA 0 PE2 -NX_Q6TDU7 83160 716 5.22 12 NA NA 0 PE1 -NX_Q6TFL3 152810 1326 6.37 9 Nucleus NA 0 PE1 -NX_Q6TFL4 68361 600 5.98 3 Adherens junction;Desmosome;Cytoplasm;Axon;Perikaryon Epidermolysis bullosa simplex, generalized, with scarring and hair loss 0 PE1 -NX_Q6TGC4 77727 694 5.13 1 Nucleus;Cytoplasm Preimplantation embryonic lethality 2 0 PE1 -NX_Q6U736 39727 354 9.11 6 Membrane NA 7 PE1 -NX_Q6U7Q0 46941 402 8.98 6 Nucleus;Cytoplasm;Cytosol;Centrosome;Nucleus NA 0 PE1 -NX_Q6U841 125946 1118 6.05 2 Cell membrane NA 12 PE1 -NX_Q6U949 18035 168 12.13 11 NA NA 0 PE2 -NX_Q6UB28 37088 335 6.35 2 Cytoplasmic vesicle;Mitochondrion NA 0 PE1 -NX_Q6UB35 105790 978 8.32 6 Mitochondrion;Mitochondrion NA 0 PE1 -NX_Q6UB98 235652 2062 6.57 18 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6UB99 297913 2663 6.7 16 Nucleus;Cytosol;Nucleoplasm KBG syndrome 0 PE1 -NX_Q6UDR6 11421 99 9.4 20 Secreted NA 0 PE2 -NX_Q6UE05 29433 265 7.67 7 Membrane NA 3 PE1 -NX_Q6ULP2 102200 937 4.4 2 Cytosol;Cytoplasmic vesicle;Cytoplasm;Golgi apparatus NA 0 PE1 -NX_Q6UN15 66526 594 5.42 4 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q6UQ28 23385 207 5.01 11 Apical cell membrane NA 0 PE2 -NX_Q6URK8 30717 271 9.09 16 Secreted NA 0 PE1 -NX_Q6UUV7 66959 619 6.35 15 Nucleus;Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 -NX_Q6UUV9 67300 634 5.65 19 Nucleoplasm;Nucleus;Cytosol;Cell membrane;Cytoplasm;Nucleus NA 0 PE1 -NX_Q6UVJ0 74397 657 7.26 1 Centriole;Centrosome;Cytosol;Microtubule organizing center Microcephaly 14, primary, autosomal recessive 0 PE1 -NX_Q6UVK1 250537 2322 5.27 15 Cell membrane;Apical cell membrane;Lamellipodium membrane;Cell surface NA 1 PE1 -NX_Q6UVM3 130501 1135 6.97 1 Cell membrane;Cytoplasmic vesicle NA 6 PE1 -NX_Q6UVW9 19972 174 8.75 12 Cell membrane;Cell membrane NA 1 PE1 -NX_Q6UVY6 69652 613 5.97 6 Cytosol;Nucleoplasm;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q6UW01 21521 205 6.58 14 Nucleus;Endoplasmic reticulum;cis-Golgi network;Secreted;Synapse NA 0 PE1 -NX_Q6UW02 52432 462 5.84 2 Cytoskeleton;Cell junction;Cell membrane;Membrane NA 1 PE1 -NX_Q6UW10 8396 78 7.01 6 Secreted;Secretory vesicle;Golgi apparatus NA 0 PE1 -NX_Q6UW15 19330 175 6.7 2 Secreted;Cytoplasm NA 0 PE1 -NX_Q6UW32 12363 110 8.22 19 Secreted NA 0 PE1 -NX_Q6UW49 38931 350 5.53 15 Acrosome NA 0 PE1 -NX_Q6UW56 24747 229 6.95 2 Cell membrane;Nucleus envelope;Cell membrane NA 1 PE1 -NX_Q6UW60 82795 755 8.67 19 Membrane;Acrosome membrane NA 1 PE1 -NX_Q6UW63 58043 502 7.59 13 Endoplasmic reticulum lumen;Nucleus NA 0 PE1 -NX_Q6UW68 21198 189 8.91 19 Nucleoplasm;Nucleus membrane;Membrane;Endoplasmic reticulum NA 4 PE1 -NX_Q6UW78 10081 93 9.39 11 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane;Cytosol Mitochondrial complex III deficiency, nuclear 9 1 PE1 -NX_Q6UW88 17091 154 6.5 4 Cytosol;Membrane;Nucleus membrane;Secreted;Nucleus NA 1 PE1 -NX_Q6UWB1 69474 636 5.48 19 Cytosol;Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q6UWB4 38856 352 7.49 8 Membrane;Cytosol NA 1 PE1 -NX_Q6UWD8 24360 224 5.97 16 Membrane NA 1 PE1 -NX_Q6UWE0 83594 723 5.7 9 Cytosol;Cytoplasm Charcot-Marie-Tooth disease 2P 0 PE1 -NX_Q6UWE3 10812 100 8.85 6 Secreted NA 0 PE1 -NX_Q6UWF3 16618 145 5.21 17 Membrane;Membrane NA 1 PE1 -NX_Q6UWF5 12886 114 6.56 6 Membrane NA 2 PE4 -NX_Q6UWF7 62263 544 9.03 11 Secreted NA 0 PE1 -NX_Q6UWF9 19733 173 8.59 7 Secreted NA 0 PE1 -NX_Q6UWH4 57552 519 9.75 4 Golgi apparatus membrane;Nucleolus;Nucleoplasm;Golgi apparatus NA 1 PE1 -NX_Q6UWH6 22538 196 6.56 2 Cytosol;Membrane;Nucleoplasm NA 5 PE1 -NX_Q6UWI2 32289 310 4.59 4 Endosome;Cytoplasmic vesicle;Cytosol;Nucleus;Endosome membrane;Golgi apparatus membrane;Cell membrane NA 1 PE1 -NX_Q6UWI4 31375 295 7.89 13 Nucleoplasm;Endoplasmic reticulum membrane;Nucleus;Cytoplasmic vesicle NA 1 PE1 -NX_Q6UWJ1 75598 677 6.47 13 Cytosol;Membrane NA 10 PE1 -NX_Q6UWJ8 18534 174 7 1 Membrane NA 1 PE1 -NX_Q6UWK7 9173 81 10.54 10 Secreted NA 0 PE1 -NX_Q6UWL2 82710 747 6.02 9 Nucleoplasm;Membrane NA 1 PE1 -NX_Q6UWL6 75092 708 6.48 19 Nucleus;Cytoplasm;Cell membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q6UWM5 27151 242 8.57 12 Membrane raft;Cell membrane;Acrosome NA 0 PE1 -NX_Q6UWM7 65088 567 8.17 15 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum NA 1 PE1 -NX_Q6UWM9 60254 527 8.15 4 Membrane NA 1 PE1 -NX_Q6UWN0 26763 246 8.76 19 Cell membrane NA 0 PE1 -NX_Q6UWN5 26936 251 6.98 19 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q6UWN8 8585 80 8.74 5 Secreted NA 0 PE1 -NX_Q6UWP2 28308 260 6.17 17 Golgi apparatus;Cytosol;Secreted NA 0 PE1 -NX_Q6UWP7 48920 414 8.83 2 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cytosol NA 4 PE1 -NX_Q6UWP8 60541 590 6.5 19 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q6UWQ5 16654 148 8.35 10 Secreted NA 0 PE2 -NX_Q6UWQ7 13248 119 7.4 19 Nucleoplasm;Secreted;Cell membrane NA 0 PE2 -NX_Q6UWR7 50241 440 8.07 4 Golgi apparatus;Cell membrane NA 0 PE1 -NX_Q6UWS5 9223 81 10.1 20 Mitochondrion NA 0 PE1 -NX_Q6UWT2 7927 76 5.38 9 Secreted NA 0 PE2 -NX_Q6UWT4 9693 87 4.67 5 Secreted;Mitochondrion;Nucleus speckle NA 0 PE1 -NX_Q6UWU2 74158 654 9.01 2 Secreted NA 0 PE1 -NX_Q6UWU4 39870 347 6.36 6 Golgi apparatus membrane;Midbody;Nucleolus;Cytoplasm NA 1 PE1 -NX_Q6UWV2 25989 235 8.12 11 Golgi apparatus;Membrane NA 1 PE1 -NX_Q6UWV6 51494 458 6.39 17 Membrane NA 1 PE1 -NX_Q6UWV7 20306 190 4.94 1 Membrane NA 2 PE2 -NX_Q6UWW0 20454 184 4.8 9 Secreted NA 0 PE1 -NX_Q6UWW8 62282 571 5.41 16 Nucleus membrane;Endoplasmic reticulum;Endoplasmic reticulum lumen NA 0 PE1 -NX_Q6UWW9 16116 146 4.95 3 Membrane NA 1 PE1 -NX_Q6UWX4 80779 724 9.21 1 Mitochondrion;Cytosol;Secreted NA 0 PE1 -NX_Q6UWY0 61450 536 9.02 5 Cytoplasmic vesicle;Nucleus;Secreted NA 0 PE1 -NX_Q6UWY2 30334 283 9.56 19 Cytoplasmic granule lumen;Secreted NA 0 PE1 -NX_Q6UWY5 45951 402 8.29 11 Secreted NA 0 PE1 -NX_Q6UWZ7 46663 409 6.58 4 Nucleus;Nucleus Breast cancer 0 PE1 -NX_Q6UX01 55209 489 8.39 12 Cell membrane NA 9 PE1 -NX_Q6UX04 53847 472 5.6 5 Nucleoplasm Retinitis pigmentosa with or without skeletal anomalies 0 PE1 -NX_Q6UX06 57280 510 5.5 13 Extracellular space;Mitochondrion NA 0 PE1 -NX_Q6UX07 40849 377 7.63 17 Cytoplasmic vesicle;Secreted NA 0 PE1 -NX_Q6UX15 43108 382 4.85 11 Cytosol;Membrane NA 1 PE1 -NX_Q6UX27 26109 236 4.98 19 Membrane;Secreted;Cytoplasmic vesicle NA 1 PE1 -NX_Q6UX34 12073 121 4.11 2 Membrane;Nucleus;Nucleolus NA 1 PE2 -NX_Q6UX39 21588 209 5.29 4 Secreted Amelogenesis imperfecta 3B 0 PE1 -NX_Q6UX40 15503 140 6.05 17 Midbody;Midbody ring;Cytosol;Nucleoplasm;Membrane;Cilium Meckel syndrome 13;Orofaciodigital syndrome 16 4 PE1 -NX_Q6UX41 56748 500 8.38 5 Membrane NA 1 PE1 -NX_Q6UX46 16915 152 9.75 2 Secreted NA 0 PE1 -NX_Q6UX52 29091 265 8.93 17 Secreted;Cytosol NA 0 PE1 -NX_Q6UX53 27775 244 8.71 12 Cytoskeleton;Cytoplasmic vesicle NA 0 PE1 -NX_Q6UX65 29766 266 8.2 1 Golgi apparatus;Lysosome membrane;Photoreceptor inner segment;Apical cell membrane;Cytoplasmic vesicle NA 6 PE1 -NX_Q6UX68 74982 686 6.21 8 Membrane NA 5 PE1 -NX_Q6UX71 59583 529 5.99 10 Membrane;Nucleus NA 1 PE1 -NX_Q6UX72 43751 402 9.33 16 Golgi apparatus membrane;Golgi apparatus;Nucleolus NA 1 PE1 -NX_Q6UX73 45391 402 5.82 16 Secreted NA 0 PE1 -NX_Q6UX82 25265 237 5.48 1 Cell membrane;Secreted NA 0 PE1 -NX_Q6UX98 30176 284 9.01 11 Membrane;Cytoplasmic vesicle;Cytosol NA 5 PE1 -NX_Q6UXA7 34195 325 7.88 6 Extracellular matrix NA 0 PE1 -NX_Q6UXB0 36108 335 4.49 3 Nucleolus;Nucleus;Secreted NA 0 PE2 -NX_Q6UXB1 14198 125 8.97 19 Secreted NA 0 PE1 -NX_Q6UXB2 13819 119 10.97 19 Secreted NA 0 PE1 -NX_Q6UXB3 13115 125 5.69 8 Cell membrane NA 0 PE2 -NX_Q6UXB4 32562 293 6.15 19 Cell membrane NA 1 PE1 -NX_Q6UXB8 49471 463 5.24 6 Secreted NA 0 PE1 -NX_Q6UXC1 131499 1216 5.66 9 Cytosol;Nucleoplasm;Membrane NA 1 PE1 -NX_Q6UXD1 13183 115 12.13 9 Membrane;Nucleoplasm NA 1 PE2 -NX_Q6UXD5 97560 910 4.8 16 Cell membrane;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q6UXD7 58427 560 6.45 4 Membrane NA 12 PE1 -NX_Q6UXE8 52251 466 5.84 5 Membrane NA 1 PE1 -NX_Q6UXF1 59948 575 9.62 3 Membrane;Postsynaptic density;Endosome membrane;Axon;Dendrite;Early endosome;Cytosol;Cytoplasmic vesicle;Nucleolus NA 2 PE1 -NX_Q6UXF7 50490 455 8.39 16 Secreted;Endoplasmic reticulum;Golgi apparatus;Endosome NA 0 PE2 -NX_Q6UXG2 111382 1013 6.13 1 Lysosome membrane;Late endosome membrane;trans-Golgi network membrane;Cell membrane;Cell membrane NA 1 PE1 -NX_Q6UXG3 36060 332 5.68 17 Basolateral cell membrane;Multivesicular body membrane;Apical cell membrane NA 1 PE1 -NX_Q6UXG8 59716 535 6 5 Nucleus membrane;Membrane;Cytoplasmic vesicle NA 1 PE1 -NX_Q6UXH0 22105 198 7.08 19 Nucleoplasm;Golgi apparatus;Secreted Diabetes mellitus, insulin-dependent;Diabetes mellitus, non-insulin-dependent 0 PE1 -NX_Q6UXH1 38192 353 4.5 22 Secreted;Endoplasmic reticulum NA 0 PE1 -NX_Q6UXH8 44103 406 7.74 18 Cell membrane;Cytosol;Secreted Hennekam lymphangiectasia-lymphedema syndrome 1 0 PE1 -NX_Q6UXH9 80199 720 7.57 11 Secreted NA 0 PE1 -NX_Q6UXI7 73930 678 9.29 2 Extracellular matrix NA 0 PE1 -NX_Q6UXI9 61907 565 8.74 4 Cytosol;Nucleus;Extracellular matrix;Cell junction NA 0 PE1 -NX_Q6UXK2 78990 745 5.17 15 Cell membrane NA 1 PE1 -NX_Q6UXK5 80716 716 5.77 3 Cytosol;Membrane NA 1 PE1 -NX_Q6UXL0 35076 311 4.98 3 Membrane NA 1 PE1 -NX_Q6UXM1 123434 1119 5.79 12 Cytoplasmic vesicle membrane;Cytosol;Cell membrane NA 1 PE1 -NX_Q6UXN2 21924 200 8.87 6 Secreted NA 0 PE2 -NX_Q6UXN7 17700 152 8.87 14 Mitochondrion outer membrane NA 1 PE1 -NX_Q6UXN8 27324 241 6.42 12 Membrane NA 1 PE1 -NX_Q6UXN9 35079 313 7.59 3 Nucleolus;Nucleus NA 0 PE1 -NX_Q6UXP3 13608 125 8.46 3 Membrane NA 2 PE5 -NX_Q6UXP7 31367 276 5.6 5 Cytosol NA 0 PE1 -NX_Q6UXP9 19777 181 9.67 15 NA NA 0 PE5 -NX_Q6UXQ4 13321 117 9.57 2 Secreted NA 0 PE3 -NX_Q6UXQ8 13410 127 11.87 15 Secreted NA 0 PE5 -NX_Q6UXR4 34864 307 5.95 14 Secreted NA 0 PE5 -NX_Q6UXR6 19530 183 6.19 9 Secreted NA 0 PE5 -NX_Q6UXR8 12794 122 7.65 19 NA NA 0 PE5 -NX_Q6UXS0 15448 136 6.17 16 Secreted NA 0 PE2 -NX_Q6UXS9 38865 341 5.63 11 NA NA 0 PE2 -NX_Q6UXT8 14269 129 10.6 8 Secreted NA 0 PE1 -NX_Q6UXT9 51771 468 7.57 17 Cytosol;Secreted;Nucleoplasm NA 0 PE1 -NX_Q6UXU0 14541 137 10.84 19 Secreted NA 0 PE2 -NX_Q6UXU4 36774 331 6.59 16 Cell membrane;Synapse NA 4 PE1 -NX_Q6UXU6 17229 159 5.48 17 Nucleoplasm;Membrane NA 1 PE2 -NX_Q6UXV0 44518 394 8.28 6 Membrane NA 1 PE1 -NX_Q6UXV1 24856 221 9.07 19 Membrane NA 1 PE1 -NX_Q6UXV3 16883 157 5.18 22 Secreted;Nucleus;Cytosol NA 0 PE2 -NX_Q6UXV4 29159 268 9.55 X Mitochondrion;Mitochondrion inner membrane;Mitochondrion NA 2 PE1 -NX_Q6UXX5 143187 1313 9.1 X Secreted NA 0 PE1 -NX_Q6UXX9 28315 243 9.42 8 Secreted NA 0 PE1 -NX_Q6UXY1 58987 529 9.53 22 Cell membrane;Cell junction;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q6UXY8 114797 1006 8.46 16 Cell membrane;Nucleus;Membrane NA 10 PE1 -NX_Q6UXZ0 29185 262 8.07 17 Cell membrane;Cytoplasm;Mitochondrion NA 1 PE1 -NX_Q6UXZ3 21558 194 9.12 17 Cell membrane NA 1 PE1 -NX_Q6UXZ4 105880 953 5.71 8 Cell membrane NA 1 PE1 -NX_Q6UY01 61489 552 5.71 3 NA NA 0 PE1 -NX_Q6UY09 64502 585 5.54 19 Microvillus membrane;Apical cell membrane NA 1 PE2 -NX_Q6UY11 40548 383 6.09 6 Nucleus;Membrane NA 1 PE1 -NX_Q6UY13 10734 95 9.78 2 Secreted NA 0 PE3 -NX_Q6UY14 116545 1074 8.79 1 Cytosol;Extracellular matrix;Cell membrane Ectopia lentis et pupillae;Ectopia lentis 2, isolated, autosomal recessive 0 PE1 -NX_Q6UY18 63774 593 8.53 1 Membrane NA 1 PE2 -NX_Q6UY27 13015 113 6.91 11 Secreted NA 0 PE1 -NX_Q6UYE1 23924 221 7.77 13 NA NA 0 PE2 -NX_Q6V0I7 542687 4981 4.77 4 Cytosol;Membrane Hennekam lymphangiectasia-lymphedema syndrome 2;Van Maldergem syndrome 2 1 PE1 -NX_Q6V0L0 57111 522 9.24 10 Membrane Focal facial dermal dysplasia 4 1 PE1 -NX_Q6V1P9 322234 2916 4.63 4 Cytoplasmic vesicle;Cell membrane;Membrane NA 1 PE1 -NX_Q6V1X1 103358 898 5.52 15 Cytoplasm;Cytosol NA 0 PE1 -NX_Q6V702 26869 233 5.28 4 Cytosol;Cell membrane NA 0 PE1 -NX_Q6V9R5 48563 426 8.76 19 Nucleus NA 0 PE1 -NX_Q6VAB6 107632 950 8.95 12 Membrane;Cytoplasm NA 0 PE1 -NX_Q6VB84 45820 417 9.82 9 Nucleus NA 0 PE1 -NX_Q6VEQ5 50312 465 5.53 2 Early endosome membrane;Recycling endosome membrane;Late endosome;Autophagosome;Centriole NA 0 PE2 -NX_Q6VMQ6 136394 1270 4.58 12 Nucleus;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q6VN20 67257 620 6.29 16 Cytosol;Nucleus NA 0 PE1 -NX_Q6VUC0 46212 442 8.64 1 Nucleus NA 0 PE2 -NX_Q6VVB1 42293 395 6.99 6 Cytoplasmic vesicle;Nucleus;Endoplasmic reticulum Epilepsy, progressive myoclonic 2 0 PE1 -NX_Q6VVX0 57359 501 7.25 11 Endoplasmic reticulum membrane;Microsome membrane Rickets vitamin D-dependent 1B 0 PE1 -NX_Q6VY07 104898 963 7.6 11 Cytosol;Cytoskeleton;trans-Golgi network Schuurs-Hoeijmakers syndrome 0 PE1 -NX_Q6W0C5 17851 159 8.86 12 Nucleus;Cytoplasm NA 0 PE1 -NX_Q6W2J9 192189 1755 6.06 X Nucleus;Nucleus Microphthalmia, syndromic, 2 0 PE1 -NX_Q6W349 10157 94 5.34 4 NA NA 0 PE5 -NX_Q6W3E5 71996 623 9.16 11 Membrane NA 6 PE2 -NX_Q6W4X9 257051 2439 7.22 11 Secreted NA 0 PE1 -NX_Q6W5P4 42687 371 8.63 7 Cytoplasm;Cell membrane Asthma-related traits 2 7 PE1 -NX_Q6WBX8 47832 426 6.47 12 NA NA 0 PE1 -NX_Q6WCQ1 116533 1025 5.89 17 Cytosol;Cytoskeleton;Cytoskeleton NA 0 PE1 -NX_Q6WKZ4 137167 1283 5.3 8 Recycling endosome;Phagosome membrane;Cytoplasmic vesicle NA 0 PE1 -NX_Q6WN34 47495 429 8.23 11 Secreted;Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q6WQI6 10305 88 8.04 11 Golgi apparatus;Cytoplasm NA 0 PE5 -NX_Q6WRI0 290838 2623 9.25 3 Secreted;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q6WRX3 85808 759 8.3 1 Nucleus NA 0 PE1 -NX_Q6X4T0 14485 127 8.66 12 NA NA 0 PE2 -NX_Q6X4U4 23307 206 9.81 7 Secreted NA 0 PE1 -NX_Q6X4W1 60143 530 9.19 9 Synapse;Cytoplasm;Nucleus membrane;Nucleoplasm;Synaptosome;Cell cortex;Cytoskeleton;Cell membrane;Dendrite;Nucleus matrix;Postsynaptic density;Membrane;Nucleus envelope;Nucleus Hypogonadotropic hypogonadism 9 with or without anosmia 0 PE1 -NX_Q6X784 38652 338 8.04 17 Secreted;Acrosome NA 0 PE1 -NX_Q6X9E4 53056 464 7.85 3 NA NA 0 PE1 -NX_Q6XCG6 11455 107 7.94 1 NA NA 0 PE4 -NX_Q6XD76 19253 172 9.23 12 Nucleus NA 0 PE1 -NX_Q6XE24 47840 437 8.12 3 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 -NX_Q6XE38 9201 83 9.14 11 Secreted NA 0 PE1 -NX_Q6XLA1 11902 102 8.53 10 NA NA 0 PE2 -NX_Q6XPR3 90731 784 6.42 1 Extracellular matrix NA 0 PE1 -NX_Q6XPS3 61112 522 8.8 13 Cytoplasm;Endoplasmic reticulum membrane NA 3 PE1 -NX_Q6XQN6 57578 538 5.51 8 Cytosol;Cytosol;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q6XR72 52684 485 6.28 1 trans-Golgi network;Cell membrane;Early endosome;Recycling endosome Hypermanganesemia with dystonia 1 6 PE1 -NX_Q6XUX3 105206 929 6.29 1 Cytoskeleton;Apical cell membrane;Cytoplasm;Cell membrane;Nucleus speckle;Basolateral cell membrane;Cell junction Congenital anomalies of the kidney and urinary tract 1;Spastic paraplegia 23 0 PE1 -NX_Q6XXX2 15753 140 9.79 21 NA NA 0 PE5 -NX_Q6XYB7 21482 198 8.95 2 Midbody;Nucleus;Nucleus NA 0 PE1 -NX_Q6XYQ8 59127 523 7.57 12 Secretory vesicle membrane;Nucleoplasm;Cytoplasmic vesicle NA 1 PE1 -NX_Q6XZB0 52992 460 9.22 21 Membrane;Secreted Hypertriglyceridemia, familial 0 PE1 -NX_Q6XZF7 177347 1577 5.26 10 Cytoplasm;Golgi apparatus;Nucleus;Nucleolus;Cytosol;Synapse;Golgi stack;Cytoskeleton NA 0 PE1 -NX_Q6Y1H2 28368 254 9.56 3 Endoplasmic reticulum membrane NA 6 PE1 -NX_Q6Y288 56564 498 7.23 13 Endoplasmic reticulum membrane Peters-plus syndrome 1 PE1 -NX_Q6Y2X3 78569 702 8.37 12 Endoplasmic reticulum membrane NA 3 PE1 -NX_Q6Y7W6 150070 1299 5.45 2 Cytosol Parkinson disease 11 0 PE1 -NX_Q6YBV0 56157 504 6.6 11 Membrane;Cell membrane;Golgi apparatus;Cytosol NA 10 PE1 -NX_Q6YFQ2 10529 88 9.21 19 Mitochondrion intermembrane space;Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 -NX_Q6YHK3 161689 1445 5.59 6 Endoplasmic reticulum;Cell membrane NA 0 PE1 -NX_Q6YHU6 219607 1953 5.71 2 Cytosol NA 0 PE1 -NX_Q6YI46 39665 380 8.78 8 Membrane;Endoplasmic reticulum NA 6 PE1 -NX_Q6YN16 45395 418 8.07 9 Peroxisome;Mitochondrion NA 0 PE1 -NX_Q6YP21 51400 454 8.4 1 Cytosol;Nucleolus NA 0 PE1 -NX_Q6ZMB0 42748 384 7.65 11 Golgi apparatus membrane NA 1 PE1 -NX_Q6ZMB5 45777 413 8.4 7 Nucleoplasm;Perinuclear region;Cytoplasmic vesicle membrane;Cell membrane;Early endosome membrane;Endosome;Secretory vesicle membrane NA 7 PE1 -NX_Q6ZMC9 35653 328 8.86 18 Nucleoplasm;Membrane;Golgi apparatus NA 1 PE1 -NX_Q6ZMD2 54769 512 6.14 17 Membrane NA 12 PE1 -NX_Q6ZMG9 44890 384 7.56 2 Nucleus membrane;Endoplasmic reticulum membrane;Nucleus NA 5 PE1 -NX_Q6ZMH5 56461 540 6.33 12 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Basolateral cell membrane Myopia 24, autosomal dominant 6 PE1 -NX_Q6ZMI0 88314 780 6.4 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q6ZMI3 58957 551 8.1 15 Axon;Secreted;Extracellular matrix;Cell membrane Lethal congenital contracture syndrome 11 1 PE1 -NX_Q6ZMJ2 53994 495 6.65 8 Cell membrane NA 1 PE1 -NX_Q6ZMJ4 27482 242 6.82 16 Secreted NA 0 PE1 -NX_Q6ZMK1 40703 362 6.87 8 Cytoplasm;Perinuclear region;Nucleoplasm NA 0 PE1 -NX_Q6ZMM2 53193 481 8.59 19 Golgi apparatus;Extracellular matrix;Secreted NA 0 PE1 -NX_Q6ZMN7 117103 1036 5.61 12 NA NA 0 PE1 -NX_Q6ZMN8 40622 369 8.07 5 Nucleoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q6ZMP0 112450 1018 7.94 15 Extracellular matrix;Nucleolus;Nucleus NA 0 PE1 -NX_Q6ZMQ8 144569 1374 4.48 17 Membrane;Cytoplasm;Mitochondrion;Perinuclear region NA 1 PE1 -NX_Q6ZMR3 36507 332 6.51 11 Cytoplasm NA 0 PE1 -NX_Q6ZMR5 47569 421 9.32 4 Membrane NA 1 PE1 -NX_Q6ZMS4 62084 543 8.45 3 Nucleus NA 0 PE1 -NX_Q6ZMS7 31422 281 4.9 7 Cell membrane;Nucleus;Cytosol NA 0 PE1 -NX_Q6ZMT1 45009 411 7.03 17 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 -NX_Q6ZMT4 106557 941 8.34 7 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 -NX_Q6ZMT9 88329 781 6.81 4 NA NA 0 PE2 -NX_Q6ZMU1 40197 363 6.32 19 NA NA 0 PE5 -NX_Q6ZMU5 52731 477 6.05 16 Nucleus;Nucleolus;Sarcolemma;Cytoplasmic vesicle membrane NA 0 PE1 -NX_Q6ZMV5 95776 832 4.72 X NA NA 0 PE5 -NX_Q6ZMV7 45158 388 6.29 3 NA NA 0 PE2 -NX_Q6ZMV8 59040 503 9.48 19 Nucleus NA 0 PE2 -NX_Q6ZMV9 92569 814 6.47 6 Cytoskeleton;Centrosome NA 0 PE1 -NX_Q6ZMW2 80904 699 9.21 9 Nucleus;Nucleus;Mitochondrion NA 0 PE1 -NX_Q6ZMW3 217899 1958 7.17 2 Mitochondrion;Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 -NX_Q6ZMY3 130027 1216 6.82 1 Cytosol;Nucleus;Nucleolus NA 0 PE1 -NX_Q6ZMY6 52621 472 6.98 19 Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q6ZMY9 54711 492 9.26 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q6ZMZ0 77925 732 5.81 1 Cytoplasmic granule membrane;Cytosol;Endoplasmic reticulum membrane NA 2 PE1 -NX_Q6ZMZ3 112216 975 5.88 14 Nucleus membrane;Nucleus outer membrane;Nucleus envelope;Rough endoplasmic reticulum NA 1 PE1 -NX_Q6ZN01 44632 415 6.57 19 Nucleus speckle;Nucleus NA 0 PE2 -NX_Q6ZN03 32374 302 9.1 21 NA NA 0 PE5 -NX_Q6ZN04 58832 569 6.44 15 Cytosol;Nucleoplasm;P-body;Cytoplasmic granule;Nucleus;Cytoplasm NA 0 PE1 -NX_Q6ZN06 71721 617 9.5 19 Nucleus NA 0 PE1 -NX_Q6ZN08 65874 573 9.46 19 Nucleus NA 0 PE5 -NX_Q6ZN11 46927 406 9.48 19 Nucleus;Nucleolus;Nucleus;Cytosol NA 0 PE2 -NX_Q6ZN16 147437 1313 5.42 X Cytoplasmic vesicle NA 0 PE1 -NX_Q6ZN17 27084 250 9.15 6 Nucleolus;Nucleus;Nucleolus;Cytoplasm;Nucleus;Cytosol NA 0 PE1 -NX_Q6ZN18 54467 517 5.1 12 Nucleus;Nucleus NA 0 PE1 -NX_Q6ZN19 93148 808 9.48 19 Nucleus NA 0 PE1 -NX_Q6ZN28 96639 852 6.43 7 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 -NX_Q6ZN30 122330 1099 6.07 9 Cytosol;Nucleus;Nucleus NA 0 PE1 -NX_Q6ZN32 39948 361 9 1 Nucleus NA 0 PE2 -NX_Q6ZN44 92932 842 6.33 5 Membrane raft;Cell membrane;Cytosol;Cell membrane;Cell projection NA 1 PE1 -NX_Q6ZN54 58710 512 6.09 16 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q6ZN55 98900 896 8.44 19 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q6ZN57 52740 461 8.91 5 Nucleus NA 0 PE1 -NX_Q6ZN66 72427 633 5.98 1 NA NA 0 PE1 -NX_Q6ZN68 43060 376 8.74 7 Endoplasmic reticulum;Membrane NA 6 PE5 -NX_Q6ZN79 34734 300 9.36 12 Nucleus NA 0 PE2 -NX_Q6ZN84 76084 652 9.25 11 Centrosome;Cell membrane NA 0 PE1 -NX_Q6ZN92 15492 141 7.06 9 NA NA 0 PE5 -NX_Q6ZNA1 107717 936 9.39 19 Nucleus NA 0 PE2 -NX_Q6ZNA4 108862 994 6.67 15 Nucleus;Cytoplasm;PML body;Nucleus;Cytosol NA 0 PE1 -NX_Q6ZNA5 66114 592 7.11 1 Membrane NA 7 PE1 -NX_Q6ZNB5 15763 142 8.53 11 Nucleolus NA 0 PE5 -NX_Q6ZNB6 101339 911 8.85 4 Nucleoplasm;Membrane NA 1 PE1 -NX_Q6ZNB7 51500 445 7.75 7 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 5 PE1 -NX_Q6ZNC4 45276 412 8.8 8 Nucleoplasm NA 0 PE1 -NX_Q6ZNC8 56557 495 9.33 6 Membrane;Mitochondrion NA 9 PE1 -NX_Q6ZNE5 55309 492 6.59 14 Cytoplasm;Endoplasmic reticulum membrane;Preautophagosomal structure membrane;Autophagosome membrane NA 0 PE1 -NX_Q6ZNE9 64350 571 6.44 2 NA NA 0 PE1 -NX_Q6ZNF0 50480 438 9.3 19 Secreted NA 0 PE1 -NX_Q6ZNG0 48503 422 8.64 3 Cell membrane;Nucleus NA 0 PE1 -NX_Q6ZNG1 83124 722 9.4 19 Nucleus NA 0 PE1 -NX_Q6ZNG2 36555 339 9.47 12 Nucleus NA 0 PE2 -NX_Q6ZNG9 56205 492 5.67 17 Nucleoplasm NA 0 PE1 -NX_Q6ZNH5 54721 498 9.27 19 Cell junction;Nucleus;Nucleus NA 0 PE1 -NX_Q6ZNI0 49319 430 8.93 20 Golgi apparatus membrane NA 1 PE2 -NX_Q6ZNJ1 302517 2754 5.95 3 Endoplasmic reticulum Gray platelet syndrome 0 PE1 -NX_Q6ZNK6 17888 161 6.96 5 NA NA 0 PE1 -NX_Q6ZNL6 159891 1462 4.93 3 Cytoskeleton;Ruffle membrane;Endoplasmic reticulum;Golgi apparatus;Early endosome NA 0 PE1 -NX_Q6ZNM6 15452 134 9.3 5 NA NA 0 PE1 -NX_Q6ZNQ3 39592 347 8.89 8 Cell membrane NA 0 PE1 -NX_Q6ZNR0 18162 172 4.96 19 Membrane NA 2 PE2 -NX_Q6ZNR8 22251 217 11.45 20 NA NA 0 PE5 -NX_Q6ZNW5 42362 385 6.01 15 Cytosol;Cytoplasm NA 0 PE1 -NX_Q6ZNX1 28842 250 9.18 5 Nucleoplasm;Nucleolus NA 0 PE2 -NX_Q6ZP01 117985 1051 5.48 2 Cytoplasm NA 0 PE1 -NX_Q6ZP29 31947 291 8.23 1 Cytoplasmic vesicle;Lysosome membrane NA 7 PE1 -NX_Q6ZP65 64841 573 4.93 12 Cytosol;Nucleoplasm;Centrosome;Cytoplasmic vesicle NA 0 PE1 -NX_Q6ZP68 13416 121 8.66 13 NA NA 0 PE2 -NX_Q6ZP80 25879 229 6.42 2 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 3 PE1 -NX_Q6ZP82 166261 1450 5.41 2 Cytoplasm;Centrosome;Nucleoplasm NA 0 PE1 -NX_Q6ZP98 14599 133 10.17 16 NA NA 0 PE2 -NX_Q6ZPA2 13472 131 6.7 19 NA NA 0 PE2 -NX_Q6ZPB5 16112 146 8.99 6 Membrane NA 2 PE1 -NX_Q6ZPD8 38593 337 9.87 X Endoplasmic reticulum membrane NA 2 PE2 -NX_Q6ZPD9 83197 716 8.94 19 Membrane;Cytoskeleton NA 12 PE1 -NX_Q6ZQN5 32979 318 8.93 10 Nucleus NA 0 PE2 -NX_Q6ZQN7 78948 724 7.67 5 Basolateral cell membrane NA 12 PE1 -NX_Q6ZQQ2 175618 1576 9.07 9 Membrane NA 1 PE1 -NX_Q6ZQQ6 333185 2873 6.94 19 NA NA 0 PE1 -NX_Q6ZQR2 36499 320 10.26 9 Cytosol;Cilium NA 0 PE1 -NX_Q6ZQT0 15498 140 7.4 4 NA NA 0 PE5 -NX_Q6ZQT7 25248 251 10.23 10 NA NA 0 PE2 -NX_Q6ZQV5 71992 615 9.64 19 Nucleus;Nucleus NA 0 PE2 -NX_Q6ZQW0 47075 420 6.39 8 NA NA 0 PE1 -NX_Q6ZQX7 49656 453 7.79 17 Nucleolus;Cytosol NA 0 PE1 -NX_Q6ZQY2 41621 392 5.01 22 NA NA 0 PE2 -NX_Q6ZQY3 59246 521 5.98 3 Cell membrane;Cytosol NA 0 PE1 -NX_Q6ZQY7 14345 126 9.3 15 NA NA 0 PE2 -NX_Q6ZR03 31336 302 7.13 21 NA NA 0 PE2 -NX_Q6ZR08 356942 3092 5.85 3 Cilium axoneme NA 0 PE1 -NX_Q6ZR37 44301 379 8.55 12 NA NA 0 PE2 -NX_Q6ZR52 75342 646 9.44 19 Nucleus NA 0 PE1 -NX_Q6ZR54 19406 194 10.93 22 NA NA 0 PE5 -NX_Q6ZR62 34685 310 5.5 X Cell membrane;Cytosol;Nucleus NA 0 PE2 -NX_Q6ZR85 19931 190 6.91 17 Nucleus NA 0 PE2 -NX_Q6ZRC1 30622 276 5.57 4 NA NA 0 PE2 -NX_Q6ZRF7 15513 136 10.24 19 Nucleus NA 0 PE5 -NX_Q6ZRF8 70861 634 6.21 1 Cytosol;Cytoplasm NA 0 PE1 -NX_Q6ZRG5 24122 221 4.39 17 NA NA 0 PE5 -NX_Q6ZRH7 133032 1159 5.95 19 Membrane;Nucleolus;Nucleus;Cytosol NA 1 PE1 -NX_Q6ZRI0 314794 2925 5.57 11 Extracellular space;Apical cell membrane Deafness, autosomal recessive, 18B 0 PE1 -NX_Q6ZRI6 110673 1047 7.72 15 Cytosol NA 0 PE1 -NX_Q6ZRI8 61664 547 9.48 X Cytoplasmic vesicle;Cell membrane;Nucleus NA 0 PE1 -NX_Q6ZRK6 124154 1079 5.42 11 NA NA 0 PE1 -NX_Q6ZRM9 21770 215 9.15 7 NA NA 0 PE2 -NX_Q6ZRN7 21161 208 11.78 16 NA NA 0 PE2 -NX_Q6ZRP0 27805 262 4.48 3 NA NA 0 PE2 -NX_Q6ZRP5 25262 223 11.34 4 NA NA 0 PE5 -NX_Q6ZRP7 77529 698 7.64 9 Membrane;Secreted;Cell membrane;Nucleus membrane;Golgi apparatus;Nucleoplasm NA 1 PE1 -NX_Q6ZRQ5 142321 1243 6.72 6 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q6ZRR5 27859 245 8.83 11 Membrane;Cytosol;Cytoplasmic vesicle NA 6 PE2 -NX_Q6ZRR7 166911 1453 7.66 14 NA NA 0 PE1 -NX_Q6ZRR9 72753 648 9.05 11 NA NA 0 PE2 -NX_Q6ZRS2 343555 3230 5.69 16 Nucleus;Cytoplasm;Nucleus;Nucleoplasm;Nucleus Floating-Harbor syndrome 0 PE1 -NX_Q6ZRS4 115403 1044 5.18 7 Nucleoplasm NA 0 PE2 -NX_Q6ZRT6 28269 265 4.65 3 NA NA 0 PE2 -NX_Q6ZRU5 16879 148 9.72 17 Secreted NA 0 PE5 -NX_Q6ZRV2 127122 1179 6.52 8 Cytosol;Cytoskeleton Amelogenesis imperfecta 3A 0 PE1 -NX_Q6ZRV3 16900 163 4.89 3 NA NA 0 PE5 -NX_Q6ZRX8 18969 168 10.14 12 NA NA 0 PE5 -NX_Q6ZRY4 22497 209 8.63 15 Cytoplasm NA 0 PE1 -NX_Q6ZRZ4 22306 202 10.08 9 Secreted NA 0 PE2 -NX_Q6ZS02 23740 220 8.42 15 NA NA 0 PE5 -NX_Q6ZS10 42935 378 4.6 19 Membrane NA 1 PE1 -NX_Q6ZS11 62466 566 5.59 19 Nucleoplasm;Cytoplasmic vesicle;Ruffle;Cytoplasmic vesicle NA 0 PE1 -NX_Q6ZS17 132308 1223 5.87 16 Cytoplasm;Cytosol;Golgi apparatus;Golgi apparatus NA 0 PE1 -NX_Q6ZS27 48496 426 7.76 3 Nucleus NA 0 PE1 -NX_Q6ZS30 307237 2694 6.01 2 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q6ZS46 22150 218 10.58 6 NA NA 0 PE5 -NX_Q6ZS49 13061 121 9.78 17 NA NA 0 PE5 -NX_Q6ZS52 17352 159 10.74 6 NA NA 0 PE5 -NX_Q6ZS62 13401 124 4.47 11 Membrane NA 1 PE2 -NX_Q6ZS72 50509 473 8.86 19 NA NA 0 PE1 -NX_Q6ZS81 353610 3184 5.9 10 Cytosol;Nucleoplasm;Membrane NA 2 PE1 -NX_Q6ZS82 25148 235 6.84 19 Membrane Prolonged electroretinal response suppression 1 PE1 -NX_Q6ZS86 59156 529 6.48 3 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q6ZS92 18106 163 9.99 4 NA NA 0 PE5 -NX_Q6ZS94 24356 237 11.59 1 NA NA 0 PE2 -NX_Q6ZSA7 34424 311 5.72 11 Cell membrane NA 1 PE1 -NX_Q6ZSA8 13825 131 11.82 19 NA NA 0 PE5 -NX_Q6ZSB3 15654 139 7.82 2 NA NA 0 PE5 -NX_Q6ZSB9 85061 765 6.52 4 Cytoplasm;Cytosol;Cytoskeleton;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q6ZSC3 40666 357 9.67 2 Nucleolus;Nucleus NA 0 PE1 -NX_Q6ZSG1 39526 346 8.19 18 Cell membrane;Nucleus;Nucleus NA 0 PE1 -NX_Q6ZSG2 52909 479 8.23 10 NA NA 0 PE1 -NX_Q6ZSI9 81037 719 5.95 19 Nucleoplasm;Focal adhesion NA 0 PE1 -NX_Q6ZSJ8 11471 110 6.29 1 NA NA 0 PE1 -NX_Q6ZSJ9 55764 500 9.44 17 Membrane NA 1 PE1 -NX_Q6ZSK4 15188 140 9.61 11 NA NA 0 PE5 -NX_Q6ZSM3 53075 486 8.49 10 Cell membrane Cataract 47 12 PE1 -NX_Q6ZSN1 16659 163 11.74 9 NA NA 0 PE2 -NX_Q6ZSR3 17863 168 8.77 15 Mitochondrion NA 0 PE5 -NX_Q6ZSR6 22955 202 6.09 16 NA NA 0 PE2 -NX_Q6ZSR9 37976 355 5.14 2 NA NA 0 PE1 -NX_Q6ZSS3 49205 439 9.16 3 Nucleus;Nucleus speckle NA 0 PE1 -NX_Q6ZSS7 88088 791 5.35 2 Cytosol;Cytoskeleton;Membrane;Nucleoplasm NA 12 PE1 -NX_Q6ZST2 14410 131 9.53 4 NA NA 0 PE2 -NX_Q6ZST4 17784 164 8.42 9 NA NA 0 PE2 -NX_Q6ZSU1 16683 146 6.27 19 NA NA 0 PE5 -NX_Q6ZSV7 16907 163 8.74 6 NA NA 0 PE2 -NX_Q6ZSY5 82798 799 4.5 X Nucleoplasm;Membrane NA 1 PE1 -NX_Q6ZSZ5 130780 1173 6.65 19 Cytoplasm;Cytosol;Cytoskeleton;Apical cell membrane Retinitis pigmentosa 78 0 PE1 -NX_Q6ZSZ6 117916 1077 6.62 18 Nucleoplasm;Nucleus Aural atresia, congenital 0 PE1 -NX_Q6ZT07 143229 1266 5.18 4 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q6ZT12 212433 1888 5.74 2 Membrane;Nucleus;Nucleolus NA 3 PE1 -NX_Q6ZT21 49453 453 6.43 3 Nucleoplasm;Mitochondrion;Membrane NA 5 PE1 -NX_Q6ZT52 36776 329 10.36 1 Cytosol NA 0 PE1 -NX_Q6ZT62 73599 677 5.13 22 Cell membrane;Cytosol NA 0 PE1 -NX_Q6ZT77 20580 177 10.14 19 Nucleus NA 0 PE5 -NX_Q6ZT83 14355 130 10.52 18 NA NA 0 PE2 -NX_Q6ZT89 33440 311 8.95 5 Cytoskeleton;Cytoskeleton;Mitochondrion inner membrane NA 6 PE1 -NX_Q6ZT98 102999 887 9.36 1 Cytosol;Dendrite;Perikaryon;Cilium;Cilium basal body NA 0 PE1 -NX_Q6ZTA4 83823 783 7.08 1 Cytoskeleton;Cytoplasm NA 0 PE1 -NX_Q6ZTB9 21749 187 8.93 19 NA NA 0 PE5 -NX_Q6ZTC4 22100 211 10.68 20 NA NA 0 PE2 -NX_Q6ZTI0 12888 123 10 11 NA NA 0 PE5 -NX_Q6ZTI6 23610 216 8.75 12 Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q6ZTK2 61934 550 9.07 16 NA NA 0 PE2 -NX_Q6ZTN6 58476 518 5.26 11 Mitochondrion;Cell membrane;Nucleus;Late endosome NA 0 PE1 -NX_Q6ZTQ3 43384 369 8.79 4 Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q6ZTQ4 97977 885 5.26 7 Cell membrane;Nucleolus NA 1 PE1 -NX_Q6ZTR5 351950 3102 7.18 X NA NA 0 PE1 -NX_Q6ZTR6 17236 163 10.37 18 NA NA 0 PE2 -NX_Q6ZTR7 34755 304 8.84 16 Cilium basal body;Centriole NA 0 PE1 -NX_Q6ZTU2 51753 488 6.76 12 NA NA 0 PE1 -NX_Q6ZTW0 31275 290 9.26 19 Flagellum axoneme;Cilium axoneme;Centrosome;Dendrite;Axon;Flagellum basal body;Cilium basal body NA 0 PE1 -NX_Q6ZTY9 16773 151 9.48 7 NA NA 0 PE2 -NX_Q6ZTZ1 31632 278 8.99 4 NA NA 0 PE2 -NX_Q6ZU15 50025 432 5.87 7 Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q6ZU35 136760 1233 5.5 4 Nucleoplasm;Golgi apparatus NA 0 PE1 -NX_Q6ZU45 25812 233 6.3 1 NA NA 0 PE5 -NX_Q6ZU52 79163 694 8.64 6 Cytosol;Centrosome NA 0 PE1 -NX_Q6ZU64 217250 1925 6.07 2 Flagellum membrane NA 1 PE1 -NX_Q6ZU65 146089 1347 9.24 7 Nucleoplasm NA 0 PE1 -NX_Q6ZU67 58375 534 5.75 4 Nucleolus;Cytosol;Nucleus NA 0 PE2 -NX_Q6ZU69 148096 1335 8.62 9 Membrane NA 1 PE1 -NX_Q6ZU80 128015 1094 6.11 14 Centriole;Spindle pole;Microtubule organizing center NA 0 PE1 -NX_Q6ZUA9 149091 1318 7.63 8 NA NA 0 PE2 -NX_Q6ZUB0 102390 917 8.2 9 Membrane NA 1 PE5 -NX_Q6ZUB1 157136 1445 9.29 9 Membrane NA 1 PE1 -NX_Q6ZUF6 20903 198 11.57 6 NA NA 0 PE5 -NX_Q6ZUG5 66039 572 6.81 3 NA NA 0 PE1 -NX_Q6ZUI0 31230 275 6.61 3 Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q6ZUJ4 30194 267 5.36 3 Nucleus speckle NA 0 PE1 -NX_Q6ZUJ8 90398 805 5.25 10 Cytoplasm;Cell membrane;Cytosol;Nucleus;Cell membrane NA 0 PE1 -NX_Q6ZUK4 41672 368 6.4 10 Membrane NA 8 PE1 -NX_Q6ZUL3 24736 223 9.59 8 NA NA 0 PE2 -NX_Q6ZUM4 98396 889 5.4 17 Cytoplasm;Membrane;Nucleus;Cytosol NA 0 PE1 -NX_Q6ZUS5 33061 278 9.84 2 Cytosol;Cytoskeleton NA 0 PE1 -NX_Q6ZUS6 52796 474 5.92 4 Nucleolus NA 0 PE1 -NX_Q6ZUT1 34110 292 9.73 11 Cytosol NA 0 PE1 -NX_Q6ZUT3 81614 714 8.05 X Cell projection;Growth cone Nystagmus congenital X-linked 1 0 PE1 -NX_Q6ZUT4 14221 128 9.39 12 NA NA 0 PE5 -NX_Q6ZUT6 57325 534 9.31 15 Nucleoplasm;Cytosol NA 0 PE1 -NX_Q6ZUT9 145020 1274 6.29 12 Nucleolus;Cytoskeleton;Membrane NA 1 PE1 -NX_Q6ZUU3 18625 175 11.34 3 Nucleolus NA 0 PE2 -NX_Q6ZUV0 28164 252 6.71 4 Cytoplasm NA 0 PE5 -NX_Q6ZUX3 111153 1019 9.51 2 NA NA 0 PE1 -NX_Q6ZUX7 24486 228 6.06 5 Membrane;Cytoskeleton;Cytoplasmic vesicle NA 4 PE1 -NX_Q6ZV29 145733 1317 7.77 9 Nucleus membrane;Mitochondrion membrane;Lysosome membrane;Microsome membrane;Membrane;Microtubule organizing center;Cytosol NA 1 PE1 -NX_Q6ZV50 66266 586 5.75 2 Nucleus;Nucleoplasm;Nucleus NA 0 PE2 -NX_Q6ZV56 16313 151 6.5 22 NA NA 0 PE2 -NX_Q6ZV60 16386 143 9.92 12 NA NA 0 PE5 -NX_Q6ZV65 45662 393 9.47 4 Cytosol;Cell membrane NA 0 PE2 -NX_Q6ZV70 46319 420 6.71 X NA NA 0 PE1 -NX_Q6ZV73 160816 1430 6.61 12 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton NA 0 PE1 -NX_Q6ZV77 20001 190 6.99 9 NA NA 0 PE2 -NX_Q6ZV80 14825 131 9.55 2 NA NA 0 PE2 -NX_Q6ZV89 46797 423 8.89 1 Postsynaptic density;Cytosol NA 0 PE1 -NX_Q6ZVC0 87928 841 9.72 7 Golgi apparatus;Cytoplasmic vesicle NA 0 PE1 -NX_Q6ZVD7 110962 989 7.82 10 Cytoplasm;Nucleus;Centrosome;Nucleoplasm;Nucleolus;Cytosol;Nucleolus Pre-eclampsia/eclampsia 4 0 PE1 -NX_Q6ZVD8 146751 1323 5.45 16 Cytoplasm;Membrane;Cytoplasmic vesicle;Nucleus NA 0 PE1 -NX_Q6ZVE7 14887 132 10.38 1 Golgi apparatus membrane NA 4 PE1 -NX_Q6ZVF9 82439 776 7.52 4 Nucleus;Nucleolus NA 0 PE1 -NX_Q6ZVH6 15831 145 8.23 11 NA NA 0 PE2 -NX_Q6ZVH7 108132 1005 6.01 2 Stereocilium NA 0 PE1 -NX_Q6ZVK1 26378 233 5.07 14 Mitochondrion;Membrane NA 4 PE1 -NX_Q6ZVK8 35501 323 5.83 8 Golgi apparatus;Nucleoplasm NA 0 PE1 -NX_Q6ZVL6 198999 1849 8.32 11 Nucleoplasm;Membrane NA 1 PE1 -NX_Q6ZVL8 15891 140 9.03 16 NA NA 0 PE2 -NX_Q6ZVM7 55556 507 4.69 17 Golgi apparatus;Cytoskeleton NA 0 PE1 -NX_Q6ZVN7 14085 128 9.69 7 NA NA 0 PE2 -NX_Q6ZVN8 45080 426 7.57 1 Cell membrane Hemochromatosis 2A 0 PE1 -NX_Q6ZVQ6 17006 151 11.05 19 NA NA 0 PE2 -NX_Q6ZVS7 16193 135 8.06 7 NA NA 0 PE5 -NX_Q6ZVT0 75042 673 9.36 1 NA NA 0 PE1 -NX_Q6ZVT6 76271 689 5.09 3 Nucleus;Golgi apparatus NA 0 PE2 -NX_Q6ZVU0 18168 165 9.05 11 NA NA 0 PE5 -NX_Q6ZVW7 37514 336 8.74 22 NA NA 0 PE1 -NX_Q6ZVX7 30847 275 6.16 19 Mitochondrion;Cytoplasm NA 0 PE1 -NX_Q6ZVX9 42692 377 8.92 3 Cell membrane NA 7 PE1 -NX_Q6ZVZ8 50803 466 6.49 2 NA NA 0 PE2 -NX_Q6ZW05 96371 846 8.84 6 Membrane;Cell membrane;Cytosol NA 12 PE2 -NX_Q6ZW13 33511 317 5.29 16 NA NA 0 PE1 -NX_Q6ZW31 79793 735 8.72 19 Nucleoplasm;Cytosol;Golgi apparatus NA 0 PE1 -NX_Q6ZW33 77277 695 8.64 11 Cell membrane;Cytoplasm;Nucleoplasm;Cytosol NA 0 PE1 -NX_Q6ZW35 18328 169 7 1 NA NA 0 PE2 -NX_Q6ZW49 121341 1069 6.24 7 Chromosome;Nucleus matrix;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q6ZW61 79085 710 5.8 4 Cilium Bardet-Biedl syndrome 12 0 PE1 -NX_Q6ZW76 72038 656 5.31 16 Cytosol;Nucleoplasm NA 0 PE1 -NX_Q6ZWB6 52440 473 8.6 4 Presynaptic cell membrane;Cytoplasmic vesicle;Postsynaptic cell membrane NA 0 PE1 -NX_Q6ZWC4 22988 215 9.32 19 NA NA 0 PE5 -NX_Q6ZWE6 87166 761 6.69 2 Cytoplasmic vesicle;Cytosol NA 0 PE1 -NX_Q6ZWH5 133259 1172 6.35 3 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q6ZWI9 29922 263 5.52 6 NA NA 0 PE2 -NX_Q6ZWJ1 61662 553 5.12 17 Cytosol;Cell membrane;Cytoplasm NA 0 PE1 -NX_Q6ZWJ8 159938 1503 5.46 7 Secreted NA 0 PE1 -NX_Q6ZWK4 19405 172 4.76 1 Membrane NA 1 PE1 -NX_Q6ZWK6 49410 438 9.33 4 Membrane NA 1 PE2 -NX_Q6ZWL3 60724 525 7.19 4 Nucleus speckle;Endoplasmic reticulum membrane Bietti crystalline corneoretinal dystrophy 1 PE1 -NX_Q6ZWT7 59527 520 8.3 2 Cytoplasmic vesicle;Membrane NA 9 PE1 -NX_Q6ZXV5 104009 915 9.03 12 Endoplasmic reticulum;Endoplasmic reticulum;Cytoskeleton;Membrane Lissencephaly 8 9 PE1 -NX_Q6ZYL4 8053 71 4.5 6 Nucleus Trichothiodystrophy 3, photosensitive 0 PE1 -NX_Q701N2 21409 237 8.39 11 NA NA 0 PE2 -NX_Q701N4 16271 177 8.31 11 NA NA 0 PE1 -NX_Q702N8 198561 1843 5.78 3 Nucleus;Cytoskeleton;Cell junction NA 0 PE1 -NX_Q709C8 422390 3753 6.38 15 Mitochondrion outer membrane;Cytoskeleton Parkinson disease 23, autosomal recessive, early onset 0 PE1 -NX_Q709F0 87283 780 8.35 3 Mitochondrion;Peroxisome NA 0 PE1 -NX_Q70CQ1 79198 688 9.37 6 Nucleus NA 0 PE1 -NX_Q70CQ2 404233 3546 5.51 2 Cytoplasm;Nucleus NA 0 PE1 -NX_Q70CQ3 58503 517 8.57 12 Mitochondrion outer membrane NA 1 PE1 -NX_Q70CQ4 146651 1352 9.35 16 Cytosol NA 0 PE1 -NX_Q70E73 135256 1250 8.97 2 Cytosol;Nucleus;Cell membrane;Cytoskeleton;Cell membrane;Lamellipodium;Filopodium NA 0 PE1 -NX_Q70EK8 120806 1073 7.54 4 Golgi apparatus;Tight junction;Nucleoplasm NA 0 PE1 -NX_Q70EK9 79756 711 8.73 X Chromosome NA 0 PE1 -NX_Q70EL1 187388 1684 6.89 10 Mitochondrion NA 0 PE1 -NX_Q70EL2 91733 814 8.32 6 Cytosol;Nucleus NA 0 PE1 -NX_Q70EL3 38955 339 6.31 15 NA NA 0 PE2 -NX_Q70EL4 122809 1123 9.35 17 NA NA 0 PE1 -NX_Q70HW3 29381 274 9.39 3 Mitochondrion;Mitochondrion inner membrane Combined oxidative phosphorylation deficiency 28 6 PE1 -NX_Q70IA6 26927 237 6.3 11 Cytosol;Nucleus;Perinuclear region;Nucleolus;Nucleus NA 0 PE1 -NX_Q70IA8 25623 216 9.01 1 NA NA 0 PE1 -NX_Q70J99 123282 1090 6.19 17 Cytosol;Lysosome;Recycling endosome;Late endosome;Membrane;Cytoplasm Familial hemophagocytic lymphohistiocytosis 3 0 PE1 -NX_Q70JA7 100284 882 8.91 5 Golgi stack membrane NA 1 PE1 -NX_Q70SY1 57415 520 5.3 7 Endoplasmic reticulum;Nucleoplasm;Nucleus;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q70UQ0 39309 350 9.21 12 Endoplasmic reticulum;Endoplasmic reticulum membrane NA 1 PE1 -NX_Q70YC4 24036 216 8.19 10 NA Uric acid nephrolithiasis 0 PE2 -NX_Q70YC5 46542 407 9.3 10 Centrosome;Cytoplasmic vesicle;Microtubule organizing center NA 0 PE1 -NX_Q70Z35 182622 1606 7.26 8 Endoplasmic reticulum NA 0 PE1 -NX_Q70Z44 50191 454 9.02 3 Cell membrane NA 4 PE1 -NX_Q70Z53 37548 315 8.25 10 Nucleus NA 0 PE1 -NX_Q711Q0 156477 1435 5.98 10 NA NA 0 PE1 -NX_Q712K3 27166 238 4.26 9 Nucleolus;Nucleus NA 0 PE1 -NX_Q717R9 16393 158 6.76 2 Cilium membrane;Cilium axoneme NA 0 PE1 -NX_Q719H9 29405 257 6.61 18 Nucleus Scalp-ear-nipple syndrome 0 PE1 -NX_Q719I0 33806 299 6.98 2 Nucleus;Cytoplasm;Cytoskeleton;Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 -NX_Q71DI3 15388 136 11.27 1 Nucleus;Chromosome NA 0 PE1 -NX_Q71F23 47522 418 9.18 4 Kinetochore;Nucleus;Microtubule organizing center;Nucleus;Cytoplasm NA 0 PE1 -NX_Q71F56 242602 2210 5.67 12 Nucleus;Nucleus;Golgi apparatus Transposition of the great arteries dextro-looped 1;Mental retardation and distinctive facial features with or without cardiac defects 0 PE1 -NX_Q71F78 17306 164 9.33 X NA NA 0 PE2 -NX_Q71H61 71200 639 8.43 1 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q71RC2 80596 724 6.2 12 Cytoplasm;Nucleus;Cytosol;Cytoplasmic granule;Cytosol NA 0 PE1 -NX_Q71RC9 8540 77 8.24 17 Golgi apparatus;Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q71RG4 33788 321 4.92 17 Endoplasmic reticulum;Cytosol;Cytoplasmic vesicle;Membrane NA 3 PE1 -NX_Q71RG6 21376 208 9.25 8 Secreted NA 0 PE5 -NX_Q71RH2 30629 274 9.12 16 Endoplasmic reticulum;Golgi apparatus membrane;Endoplasmic reticulum membrane NA 4 PE1 -NX_Q71RS6 54888 500 5.77 15 Melanosome;trans-Golgi network membrane Albinism, oculocutaneous, 6 11 PE1 -NX_Q71SY5 78171 747 8.61 19 Cytoplasm;Nucleus;Nucleoplasm;Nucleus Basel-Vanagaite-Smirin-Yosef syndrome;Charcot-Marie-Tooth disease 2B2 0 PE1 -NX_Q71U36 50136 451 4.94 12 Cytoskeleton Lissencephaly 3 0 PE1 -NX_Q71UI9 13509 128 10.58 7 Nucleus;Chromosome NA 0 PE1 -NX_Q71UM5 9477 84 9.57 15 NA NA 0 PE1 -NX_Q75L30 13422 129 9.14 7 NA NA 0 PE5 -NX_Q75LS8 15591 142 4.29 7 NA NA 0 PE5 -NX_Q75MW2 17236 155 9.66 7 NA NA 0 PE5 -NX_Q75N03 54519 491 8.57 7 Nucleus speckle;Nucleus speckle;Nucleoplasm NA 0 PE1 -NX_Q75N90 300356 2809 4.92 19 Extracellular matrix NA 0 PE1 -NX_Q75NE6 8163 70 9.26 13 Membrane Feingold syndrome 2 1 PE5 -NX_Q75QN2 113088 995 6.65 8 Nucleoplasm;Nucleus NA 0 PE1 -NX_Q75T13 105383 922 9.14 2 Endoplasmic reticulum membrane Mental retardation, autosomal recessive 42 7 PE1 -NX_Q75V66 107188 913 6.37 11 Endoplasmic reticulum membrane;Cell membrane Limb-girdle muscular dystrophy 2L;Gnathodiaphyseal dysplasia;Miyoshi muscular dystrophy 3 8 PE1 -NX_Q75VX8 92882 874 6.48 2 Cytosol NA 0 PE1 -NX_Q75WM6 28116 255 11.77 12 Nucleus;Chromosome NA 0 PE1 -NX_Q765I0 13749 119 6.11 3 Mitochondrion;Secreted NA 0 PE3 -NX_Q765P7 79929 747 7.18 16 Focal adhesion;Cytoplasm;Ruffle NA 0 PE1 -NX_Q76B58 88445 766 8.06 1 Mitochondrion;Secreted NA 0 PE1 -NX_Q76EJ3 36673 337 8.89 9 Golgi apparatus;Golgi apparatus membrane NA 8 PE1 -NX_Q76FK4 131616 1167 6.67 9 Nucleolus;Nucleolus NA 0 PE1 -NX_Q76G19 86171 769 5.8 X Cell cortex NA 0 PE1 -NX_Q76I76 158216 1423 5.26 17 Cytoskeleton NA 0 PE1 -NX_Q76KD6 62399 591 8.31 8 Cytoplasm;Centrosome NA 0 PE1 -NX_Q76KP1 116513 1039 6.51 11 Cytoskeleton;Spindle;Golgi stack membrane;Nucleoplasm;Cytoskeleton NA 1 PE1 -NX_Q76KX8 77167 674 9.42 19 Nucleus NA 0 PE2 -NX_Q76L83 153820 1435 9 2 Nucleoplasm;Nucleus Shashi-Pena syndrome 0 PE1 -NX_Q76LX8 153604 1427 6.96 9 Secreted Thrombotic thrombocytopenic purpura congenital 0 PE1 -NX_Q76M96 108174 950 9.72 3 Extracellular matrix NA 0 PE1 -NX_Q76MJ5 102480 926 6.73 16 Endoplasmic reticulum membrane NA 1 PE1 -NX_Q76N32 81102 757 5.04 2 Microtubule organizing center;Nucleus;Centrosome NA 0 PE1 -NX_Q76N89 179554 1606 5.33 7 Cytoplasm;Cytosol NA 0 PE1 -NX_Q76NI1 191397 1749 5.83 10 Perikaryon;Dendrite NA 0 PE1 -NX_Q7KYR7 59633 527 6.08 6 Membrane;Cell membrane NA 1 PE1 -NX_Q7KZ85 199073 1726 4.81 17 Cell membrane;Cytosol;Nucleus;Nucleoplasm NA 0 PE1 -NX_Q7KZF4 101997 910 6.74 7 Cytosol;Cytoplasm;Nucleus;Melanosome NA 0 PE1 -NX_Q7KZI7 87911 788 9.73 11 Cytoskeleton;Nucleoplasm;Cell membrane;Cell membrane;Lateral cell membrane;Cytoplasm NA 0 PE1 -NX_Q7KZN9 46030 410 9.85 10 Mitochondrion;Mitochondrion membrane Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2;Leigh syndrome 8 PE1 -NX_Q7L014 117362 1031 9.33 5 Nucleus speckle;Membrane;Nucleus;Nucleus speckle;Cajal body NA 0 PE1 -NX_Q7L099 52965 469 5.36 4 Cytoplasm;Endomembrane system;Invadopodium;Perikaryon;Cytosol;Filopodium;Cell projection;Growth cone;Lamellipodium NA 0 PE1 -NX_Q7L0J3 82695 742 5.38 1 Endoplasmic reticulum;Cytosol;Synapse;Synaptic vesicle membrane NA 12 PE1 -NX_Q7L0L9 23184 218 10.99 1 Membrane NA 2 PE2 -NX_Q7L0Q8 28218 258 8.39 1 Podosome;Cell membrane;Golgi apparatus membrane;Focal adhesion NA 0 PE1 -NX_Q7L0R7 47728 432 6.4 5 Nucleoplasm NA 0 PE2 -NX_Q7L0X0 88723 811 9.7 7 Membrane NA 1 PE1 -NX_Q7L0X2 75255 663 4.87 3 NA NA 0 PE2 -NX_Q7L0Y3 47347 403 9.4 3 Mitochondrion;Nucleoplasm;Mitochondrion nucleoid Combined oxidative phosphorylation deficiency 30 0 PE1 -NX_Q7L190 33541 304 9.57 3 Nucleus NA 0 PE1 -NX_Q7L1I2 77444 683 5.26 15 Acrosome;Synaptic vesicle membrane NA 12 PE1 -NX_Q7L1Q6 48043 419 5.75 2 Cytoplasmic vesicle NA 0 PE1 -NX_Q7L1S5 52055 443 9.41 18 Secreted;Golgi apparatus membrane NA 1 PE1 -NX_Q7L1T6 59474 521 7.6 6 Endoplasmic reticulum NA 0 PE1 -NX_Q7L1V2 59217 547 5.88 16 Cytosol NA 0 PE1 -NX_Q7L1W4 98201 858 7.76 1 Nucleoplasm;Endoplasmic reticulum membrane;Mitochondrion;Cell membrane NA 4 PE1 -NX_Q7L211 38548 337 8.74 13 Cytosol;Membrane NA 1 PE1 -NX_Q7L266 32055 308 5.84 11 Cytoskeleton;Nucleoplasm;Cytoplasm NA 0 PE1 -NX_Q7L273 42567 389 5.95 8 Cytosol;Nucleoplasm;Cytoskeleton NA 0 PE1 -NX_Q7L2E3 133938 1194 8.99 3 Cytoplasm;Mitochondrion nucleoid;Mitochondrion;Cytosol;Mitochondrion NA 0 PE1 -NX_Q7L2H7 42503 374 5.41 11 Cytoplasm;Cytosol;Cytoplasm;Nucleus NA 0 PE1 -NX_Q7L2J0 74355 689 9.62 7 Cell junction;Nucleoplasm NA 0 PE1 -NX_Q7L2K0 46402 433 9.54 16 Cell junction;Nucleoplasm NA 0 PE1 -NX_Q7L2R6 61633 523 8.92 19 Nucleus NA 0 PE1 -NX_Q7L2Z9 30595 268 9.43 6 Nucleus;Centromere;Nucleoplasm NA 0 PE1 -NX_Q7L311 65683 632 8.68 X Nucleus;Mitochondrion;Mitochondrion;Mitochondrion outer membrane NA 1 PE1 -NX_Q7L3B6 38835 337 5.22 9 Cytoplasm;Cytosol NA 0 PE1 -NX_Q7L3S4 35702 317 9.15 16 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q7L3T8 53263 475 8.45 1 Mitochondrion matrix;Nucleolus;Mitochondrion NA 0 PE1 -NX_Q7L3V2 39299 364 4.93 22 Mitochondrion NA 0 PE1 -NX_Q7L4E1 65531 593 5.62 9 Cell junction;Cytosol;Mitochondrion outer membrane NA 2 PE1 -NX_Q7L4I2 50560 434 11.33 12 Cytoplasm;Nucleus;Nucleus speckle;Nucleolus;Cytosol NA 0 PE1 -NX_Q7L4P6 48182 421 5.88 1 Nucleus speckle;Cytosol NA 0 PE1 -NX_Q7L4S7 33019 300 4.69 X Cytoplasm;Mitochondrion;Mitochondrion outer membrane;Nucleus membrane;Nucleus;Cytosol;Nucleus;Cell membrane NA 1 PE1 -NX_Q7L513 38927 359 5.22 1 Cytoplasm NA 0 PE1 -NX_Q7L523 36566 313 7.62 9 Cytoplasm;Nucleus;Lysosome NA 0 PE1 -NX_Q7L576 145182 1253 6.46 15 Cytoplasm;Perinuclear region;Lamellipodium;Ruffle;Synaptosome NA 0 PE1 -NX_Q7L590 98183 875 8.96 10 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q7L591 53288 496 7.93 5 Cell membrane;Cytoplasm NA 0 PE1 -NX_Q7L592 49238 441 8.47 2 Mitochondrion NA 0 PE1 -NX_Q7L5A3 56690 538 9.09 9 Nucleus;Nucleolus;Nucleus NA 0 PE1 -NX_Q7L5A8 42791 372 8.76 16 Nucleus membrane;Microsome membrane;Endoplasmic reticulum membrane Spastic paraplegia 35, autosomal recessive 4 PE1 -NX_Q7L5D6 36504 327 5.29 7 Cytosol;Cytosol;Nucleoplasm;Nucleolus NA 0 PE1 -NX_Q7L5L3 36596 318 8.13 16 Cytoskeleton;Membrane;Cytosol;Nucleoplasm;Perinuclear region;Endoplasmic reticulum NA 2 PE1 -NX_Q7L5N1 36163 327 5.47 7 Nucleus;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q7L5N7 60208 544 6.14 16 Lipid droplet;Golgi apparatus membrane;Endoplasmic reticulum membrane;Lipid droplet;Endoplasmic reticulum NA 1 PE1 -NX_Q7L5Y1 49786 443 6.03 18 Mitochondrion NA 0 PE1 -NX_Q7L5Y6 63848 550 7.32 15 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 -NX_Q7L5Y9 45287 396 8.95 4 Nucleoplasm;Nucleus matrix;Cell membrane;Cytoskeleton NA 0 PE1 -NX_Q7L622 80504 706 7.9 14 Cytoplasm;Nucleolus NA 0 PE1 -NX_Q7L775 70370 607 5.77 3 Endoplasmic reticulum NA 0 PE1 -NX_Q7L7L0 14121 130 11.05 1 Nucleus;Chromosome NA 0 PE1 -NX_Q7L7V1 84419 743 4.88 10 Nucleus;Mitochondrion NA 0 PE1 -NX_Q7L7X3 116070 1001 7.3 17 Cytoplasm NA 0 PE1 -NX_Q7L804 58279 512 9.33 10 Cytoplasmic vesicle;Nucleoplasm;Cell membrane;Recycling endosome membrane NA 0 PE1 -NX_Q7L8A9 40957 365 9.5 14 Secreted NA 0 PE1 -NX_Q7L8C5 46885 426 7.6 11 Golgi apparatus;Cytoplasmic vesicle;Membrane NA 1 PE1 -NX_Q7L8J4 43499 393 5.57 1 Golgi apparatus;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 -NX_Q7L8L6 86574 764 8.41 20 Mitochondrion nucleoid NA 0 PE1 -NX_Q7L8S5 33300 288 6.29 X NA NA 0 PE1 -NX_Q7L8W6 30307 267 5.24 15 Nucleus;Nucleolus NA 0 PE1 -NX_Q7L945 52853 461 9.18 19 Nucleolus;Nucleus;Nucleus NA 0 PE1 -NX_Q7L985 68066 606 8.44 9 Membrane NA 1 PE1 -NX_Q7L9B9 62403 569 8.64 7 Nucleus speckle;Cytoplasmic vesicle;Cell membrane NA 0 PE1 -NX_Q7L9L4 25091 216 6.24 4 Cytoplasm;Nucleus NA 0 PE1 -NX_Q7LBC6 191581 1761 6.78 5 Nucleus;Nucleoplasm NA 0 PE1 -NX_Q7LBE3 86988 791 8.47 1 Membrane;Nucleus;Cell junction NA 13 PE1 -NX_Q7LBR1 22109 199 7.81 18 Nucleus;Late endosome membrane;Midbody;Cytosol;Endosome NA 0 PE1 -NX_Q7LC44 45316 396 5.45 8 Cytoskeleton;Synapse;Cytoplasmic vesicle;Cytoskeleton;Endosome;Acrosome;Postsynaptic density;Dendrite;Dendritic spine NA 0 PE1 -NX_Q7LDG7 69248 609 7.89 11 Synaptosome;Ruffle membrane;Cell membrane;Cytosol Bleeding disorder, platelet-type 18 0 PE1 -NX_Q7LDI9 74079 666 9.11 7 Cell membrane NA 0 PE1 -NX_Q7LFL8 32977 322 9.27 5 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 -NX_Q7LFX5 64926 561 8.56 10 Centrosome;Cytosol;Golgi apparatus membrane NA 1 PE1 -NX_Q7LG56 40737 351 4.89 8 Nucleus;Nucleoplasm;Cytoplasm;Cytosol Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5;Mitochondrial DNA depletion syndrome 8A;Mitochondrial DNA depletion syndrome 8B 0 PE1 -NX_Q7LGA3 41881 356 8.83 1 Mitochondrion;Golgi apparatus membrane NA 1 PE1 -NX_Q7LGC8 54706 479 8.84 10 Cytosol;Golgi apparatus;Golgi apparatus membrane Spondyloepiphyseal dysplasia with congenital joint dislocations 1 PE1 -NX_Q7M4L6 46768 423 6.01 15 Nucleus NA 0 PE1 -NX_Q7RTM1 67353 612 8.71 4 Extracellular space;Membrane NA 10 PE2 -NX_Q7RTN6 48369 431 6.02 17 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 -NX_Q7RTP0 34562 329 8.7 15 Cell membrane;Early endosome Spastic paraplegia 6, autosomal dominant 9 PE1 -NX_Q7RTP6 224295 2002 5.43 22 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Cell cortex;Cilium basal body;Spindle;Midbody;Nucleus;Cytoskeleton NA 0 PE1 -NX_Q7RTR0 113312 991 6.08 19 Cytoplasm;Inflammasome NA 0 PE1 -NX_Q7RTR2 114658 1065 8.64 16 Cytosol;Microtubule organizing center;Cytoplasm NA 0 PE1 -NX_Q7RTR8 36195 314 9.64 12 Membrane;Focal adhesion;Nucleoplasm;Cytoskeleton NA 7 PE2 -NX_Q7RTS1 20818 189 11.26 7 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 -NX_Q7RTS3 34970 328 5.1 10 Nucleus;Nucleoplasm;Cytoplasm Pancreatic agenesis 2;Pancreatic and cerebellar agenesis 0 PE1 -NX_Q7RTS5 66296 596 8.96 17 Membrane NA 12 PE1 -NX_Q7RTS6 62236 562 7.04 17 Membrane NA 10 PE1 -NX_Q8WZ42 3816030 34350 6.02 2 Cytoplasm;Nucleus Early-onset myopathy with fatal cardiomyopathy;Cardiomyopathy, familial hypertrophic 9;Cardiomyopathy, dilated 1G;Tardive tibial muscular dystrophy;Hereditary myopathy with early respiratory failure;Limb-girdle muscular dystrophy 2J 0 PE1 +NextprotID SeqLength MW IsoPoint TMDomains SubcellLocations Diseases ProteinExistence Chr +NX_Q7RTS7 529 57865 7.59 0 NA Ectodermal dysplasia 7, hair/nail type;Woolly hair autosomal dominant;Hypotrichosis 3 PE1 12 +NX_Q7RTS9 669 75935 5.56 0 Golgi apparatus;Cytoplasm;Golgi apparatus;Membrane Smith-McCort dysplasia 1;Dyggve-Melchior-Clausen syndrome PE1 18 +NX_Q7RTT3 188 21553 9.19 0 NA NA PE2 X +NX_Q7RTT4 187 21859 9.46 0 NA NA PE2 X +NX_Q7RTT5 188 21591 9.19 0 NA NA PE2 X +NX_Q7RTT6 188 21688 9.32 0 NA NA PE5 X +NX_Q7RTT9 530 58059 7.64 10 Cytoskeleton;Cytoskeleton;Apical cell membrane;Cell membrane NA PE1 7 +NX_Q7RTU0 167 17516 10.24 0 Nucleus NA PE3 8 +NX_Q7RTU1 214 23309 11.33 0 Nucleus NA PE2 2 +NX_Q7RTU3 272 29358 9.54 0 Nucleus NA PE1 6 +NX_Q7RTU4 235 24132 11.21 0 Nucleus;Cytoplasm Camptosynpolydactyly, complex;Syndactyly, mesoaxial synostotic, with phalangeal reduction;Split-hand/foot malformation with long bone deficiency 3 PE1 17 +NX_Q7RTU5 278 29462 8.71 0 Nucleus NA PE3 1 +NX_Q7RTU7 201 21596 10.17 0 Nucleus NA PE3 8 +NX_Q7RTU9 1775 192967 5.27 0 Kinocilium;Stereocilium;Cell surface Deafness, autosomal recessive, 16;Deafness-infertility syndrome PE2 15 +NX_Q7RTV0 110 12405 8.79 0 Nucleoplasm;Nucleus;Nucleus speckle NA PE1 22 +NX_Q7RTV2 222 25722 7.74 0 Cytoplasm NA PE1 6 +NX_Q7RTV3 350 38411 8.07 0 Nucleus;Nucleoplasm NA PE1 9 +NX_Q7RTV5 226 24857 9.07 0 NA NA PE1 9 +NX_Q7RTW8 1153 128533 5.53 0 Extracellular matrix;Apical cell membrane Deafness, autosomal recessive, 22 PE1 16 +NX_Q7RTX0 852 93386 6.75 7 Cell membrane NA PE1 1 +NX_Q7RTX1 841 93074 8.32 7 Cell membrane NA PE2 1 +NX_Q7RTX7 472 54092 5.15 6 Flagellum membrane NA PE1 1 +NX_Q7RTX9 510 56254 6.45 12 Cytosol;Cell membrane NA PE2 2 +NX_Q7RTY0 426 44992 6.44 12 Golgi apparatus;Golgi apparatus membrane;Cell membrane Diabetes mellitus, non-insulin-dependent PE1 17 +NX_Q7RTY1 509 55794 8.25 12 Cell membrane;Cell junction;Nucleus NA PE1 10 +NX_Q7RTY3 260 29329 8.42 0 NA NA PE2 3 +NX_Q7RTY5 328 35970 7.49 0 Secreted NA PE2 4 +NX_Q7RTY7 1134 125066 8.67 0 Secreted NA PE1 12 +NX_Q7RTY8 843 94415 8.84 1 Cell membrane NA PE2 3 +NX_Q7RTY9 318 35078 9.36 0 Cell membrane NA PE1 16 +NX_Q7RTZ1 564 62642 7.22 0 Secreted NA PE1 11 +NX_Q7RTZ2 530 59590 7.81 0 Endoplasmic reticulum;Nucleus NA PE3 8 +NX_Q7Z2D5 763 82983 9 6 Membrane NA PE1 1 +NX_Q7Z2E3 356 40740 9.27 0 Cytoplasm;Nucleolus;Nucleus;Nucleoplasm;Nucleolus Ataxia-oculomotor apraxia syndrome PE1 9 +NX_Q7Z2F6 126 14454 4.9 0 Nucleoplasm;Cytosol NA PE2 16 +NX_Q7Z2G1 175 19618 10.69 0 Nucleus membrane;Chromosome NA PE1 X +NX_Q7Z2H8 476 53076 6.54 11 Endoplasmic reticulum;Cell membrane;Lysosome membrane NA PE1 5 +NX_Q7Z2K6 904 100231 7.2 9 Nucleus;Nucleolus;Endoplasmic reticulum membrane NA PE1 9 +NX_Q7Z2K8 1008 102399 8.33 0 Cell membrane;Cytoplasmic vesicle;Cell membrane;Growth cone NA PE1 5 +NX_Q7Z2Q7 622 70301 9.02 1 Membrane NA PE2 5 +NX_Q7Z2R9 100 10995 12.15 0 Secreted NA PE5 1 +NX_Q7Z2T5 733 81747 8.11 0 Nucleolus;Nucleus NA PE1 1 +NX_Q7Z2V1 217 23111 6.41 0 NA NA PE1 16 +NX_Q7Z2W4 902 101431 8.72 0 Cytosol;Nucleus;Golgi apparatus;Cytoplasm NA PE1 7 +NX_Q7Z2W7 1104 127685 6.91 6 Cell membrane;Membrane raft;Endoplasmic reticulum membrane NA PE1 2 +NX_Q7Z2W9 205 22815 9.91 0 Nucleoplasm;Mitochondrion;Mitochondrion NA PE1 11 +NX_Q7Z2X4 250 28272 6.53 0 Endoplasmic reticulum;Cytoplasm NA PE1 2 +NX_Q7Z2X7 111 12090 4 0 NA NA PE1 X +NX_Q7Z2Y5 1582 178479 5.93 0 Cytoplasm;Cytosol;Nucleoplasm NA PE1 X +NX_Q7Z2Y8 2422 279048 6.12 0 Cytosol;Nucleus NA PE2 11 +NX_Q7Z2Z1 1910 210857 9 0 Nucleus;Nucleoplasm NA PE1 15 +NX_Q7Z2Z2 1120 125430 5.66 0 Cytosol NA PE1 15 +NX_Q7Z304 686 77556 5.05 0 Endoplasmic reticulum;Extracellular matrix NA PE1 9 +NX_Q7Z309 247 26928 5.98 0 Nucleus;Nucleoplasm NA PE1 X +NX_Q7Z333 2677 302880 6.83 0 Cytoskeleton;Nucleus;Nucleolus;Nucleus;Nucleoplasm;Cytoplasm;Chromosome;Telomere;Axon;Growth cone Spinocerebellar ataxia, autosomal recessive, 1;Amyotrophic lateral sclerosis 4 PE1 9 +NX_Q7Z340 670 77515 8.73 0 Nucleus speckle;Nucleus;Nucleoplasm NA PE1 19 +NX_Q7Z353 690 77206 5.61 0 Nucleus;Cytosol NA PE1 X +NX_Q7Z388 723 83756 8.41 12 Endoplasmic reticulum;Cytoplasmic vesicle;Membrane NA PE1 8 +NX_Q7Z392 1133 128881 6.72 0 Nucleus membrane;Nucleoplasm;cis-Golgi network;Golgi apparatus Limb-girdle muscular dystrophy 2S PE1 4 +NX_Q7Z398 422 48381 8.95 0 Cytoskeleton;Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_Q7Z3B0 74 8625 9.82 1 Membrane NA PE1 5 +NX_Q7Z3B1 354 38719 5.84 0 Cytosol;Cytoplasmic vesicle;Cell membrane;Cytoskeleton NA PE1 1 +NX_Q7Z3B3 1105 121025 9 0 Nucleus;Nucleus;Nucleoplasm;Kinetochore NA PE1 17 +NX_Q7Z3B4 507 55435 6.53 0 Nucleoplasm;Nuclear pore complex;Nucleus membrane;Nucleus membrane NA PE1 4 +NX_Q7Z3C6 839 94447 6.19 6 Endoplasmic reticulum;Cytoplasmic vesicle;Autophagosome membrane;Late endosome membrane;trans-Golgi network membrane;Endoplasmic reticulum membrane NA PE1 2 +NX_Q7Z3D4 306 34538 5.62 1 Membrane;Cytosol NA PE1 5 +NX_Q7Z3D6 616 66437 6.32 0 Mitochondrion;Cytosol;Mitochondrion matrix NA PE1 14 +NX_Q7Z3E1 657 76227 6.19 0 Nucleus;Cytoskeleton;Microtubule organizing center;Nucleoplasm NA PE1 3 +NX_Q7Z3E2 898 103687 5.94 0 Golgi apparatus NA PE1 10 +NX_Q7Z3E5 817 91762 5.83 0 Cytoplasm;Nucleolus;Cytosol NA PE1 2 +NX_Q7Z3F1 870 96919 6.42 17 Endosome;Cytosol;Membrane;Nucleus NA PE1 2 +NX_Q7Z3G6 844 95615 7.12 0 Cytoplasmic vesicle;Golgi apparatus;Nucleus membrane NA PE1 3 +NX_Q7Z3H0 272 29011 5.63 0 NA NA PE2 12 +NX_Q7Z3H4 446 49112 6.32 0 Nucleus;Cytoplasm NA PE1 3 +NX_Q7Z3I7 529 61238 8.32 0 Nucleus;Nucleus speckle;Nucleus NA PE1 8 +NX_Q7Z3J2 963 109563 6.82 1 Nucleus;Cytoplasm;Early endosome;Membrane;Mitochondrion NA PE1 16 +NX_Q7Z3J3 1758 197289 5.9 0 NA NA PE1 2 +NX_Q7Z3K3 1410 155344 7.14 0 Nucleus;Cytoplasm;Chromosome;Nucleus;Nucleoplasm;Cytoplasm White-Sutton syndrome PE1 1 +NX_Q7Z3K6 550 61437 4.42 0 Nucleoplasm;Nucleus NA PE1 5 +NX_Q7Z3Q1 461 51519 5.56 11 Endosome;Cytosol;Cytoskeleton;Cell membrane;Membrane NA PE1 13 +NX_Q7Z3S7 1137 127938 5.18 1 Membrane Retinal cone dystrophy 4 PE1 12 +NX_Q7Z3S9 236 25835 5.44 0 Secreted;Cytoplasm NA PE1 1 +NX_Q7Z3T1 314 34789 8.92 7 Cell membrane NA PE2 1 +NX_Q7Z3T8 1539 168903 4.67 0 Cytosol;Cytoplasm;Cytoplasmic vesicle;Early endosome membrane NA PE1 5 +NX_Q7Z3U7 1717 190359 5.72 0 Nucleoplasm;Nucleolus NA PE1 12 +NX_Q7Z3V4 1068 123098 8.51 0 Nucleus speckle;Mitochondrion Kaufman oculocerebrofacial syndrome PE1 12 +NX_Q7Z3V5 609 70792 8.71 0 Nucleus;Cell membrane;Nucleolus;Nucleus;Nucleus NA PE1 19 +NX_Q7Z3Y7 464 50567 5.33 0 Cytoplasm NA PE1 17 +NX_Q7Z3Y8 459 49822 4.98 0 Cytoplasm NA PE1 17 +NX_Q7Z3Y9 468 51911 4.86 0 NA NA PE1 17 +NX_Q7Z3Z0 450 49318 5 0 Cytoplasm Woolly hair autosomal recessive 3 PE1 17 +NX_Q7Z3Z2 195 22704 7.73 0 NA Leber congenital amaurosis 12 PE1 1 +NX_Q7Z3Z3 882 101089 9.56 0 Cytoplasm NA PE1 22 +NX_Q7Z3Z4 852 96589 9.09 0 Nucleus;Cytoplasm NA PE1 11 +NX_Q7Z401 1863 209244 7.07 0 Nucleus;Nucleolus;Nucleus NA PE1 15 +NX_Q7Z402 723 83502 8.74 9 Membrane;Cytoplasmic vesicle NA PE1 16 +NX_Q7Z403 805 90045 8.98 10 Endoplasmic reticulum membrane Epidermodysplasia verruciformis PE1 17 +NX_Q7Z404 712 79208 9.16 9 Membrane NA PE1 19 +NX_Q7Z406 1995 227871 5.52 0 Nucleoplasm Deafness, autosomal dominant, 4A;Peripheral neuropathy, myopathy, hoarseness, and hearing loss PE1 19 +NX_Q7Z407 3707 406000 5.63 2 Cell membrane NA PE1 8 +NX_Q7Z408 3487 380039 5.69 1 Cell membrane NA PE1 1 +NX_Q7Z410 1059 114021 8.46 1 Cell membrane NA PE1 19 +NX_Q7Z412 305 33898 5.94 1 Peroxisome membrane Peroxisome biogenesis disorder 7A;Peroxisome biogenesis disorder complementation group 8;Peroxisome biogenesis disorder 7B PE1 22 +NX_Q7Z417 695 76121 8.7 0 Cytosol;Nucleus;Nucleoplasm;Cytoplasm;Nucleus NA PE1 17 +NX_Q7Z418 384 43671 6.6 4 Cell membrane Migraine with or without aura 13 PE1 10 +NX_Q7Z419 303 33697 7.62 1 Mitochondrion;Nucleolus;Mitochondrion membrane;Cytoplasm NA PE1 6 +NX_Q7Z422 152 16997 8.92 0 Nucleoplasm;Cytosol NA PE1 1 +NX_Q7Z429 371 41203 5.21 7 Nucleolus;Cytosol;Membrane NA PE1 8 +NX_Q7Z434 540 56528 5.36 1 Mitochondrion outer membrane;Mitochondrion;Peroxisome;Mitochondrion NA PE1 20 +NX_Q7Z442 2459 272575 5.54 12 Membrane NA PE1 16 +NX_Q7Z443 1732 195894 8.78 12 Cell membrane NA PE1 16 +NX_Q7Z444 233 25287 6.1 0 Cell membrane NA PE2 X +NX_Q7Z449 544 61987 8.63 5 Golgi apparatus;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Microsome membrane;Nucleoplasm Spastic paraplegia 56, autosomal recessive PE1 4 +NX_Q7Z460 1538 169451 9.14 0 trans-Golgi network;Centrosome;Kinetochore;Cytoskeleton;Spindle NA PE1 2 +NX_Q7Z465 357 39713 5.26 0 NA NA PE1 1 +NX_Q7Z478 1369 155236 8.3 0 Cytosol;Cytoplasm NA PE1 5 +NX_Q7Z494 1330 150864 6.31 0 Cilium Meckel syndrome 7;Renal-hepatic-pancreatic dysplasia 1;Nephronophthisis 3 PE1 3 +NX_Q7Z4B0 112 12600 9.98 0 Secreted NA PE5 18 +NX_Q7Z4F1 713 76193 5.3 1 Membrane;Coated pit;Nucleus;Nucleolus NA PE1 14 +NX_Q7Z4G1 85 9638 5.69 0 Cytoplasm;Nucleus NA PE1 13 +NX_Q7Z4G4 463 53421 7.65 0 Nucleus NA PE1 6 +NX_Q7Z4H3 204 23390 5.33 0 Nucleolus;Nucleus NA PE1 6 +NX_Q7Z4H4 148 15865 11.81 0 Secreted NA PE2 22 +NX_Q7Z4H7 955 108621 6.04 0 Cytosol;Microtubule organizing center;Nucleus speckle;Cytoskeleton;Spindle;Centrosome NA PE1 9 +NX_Q7Z4H8 507 58572 8.42 0 Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum lumen NA PE1 11 +NX_Q7Z4H9 259 28021 8.86 0 Cytoplasmic vesicle;Nucleus NA PE2 7 +NX_Q7Z4I7 341 38916 8.44 0 Focal adhesion;Nucleus;Focal adhesion;Cell membrane Limb-girdle muscular dystrophy 2W PE1 2 +NX_Q7Z4J2 308 36274 9.37 1 Membrane NA PE2 9 +NX_Q7Z4K8 759 83424 7.99 0 Cytosol;Cytoskeleton;Axon;Cytoskeleton NA PE1 1 +NX_Q7Z4L0 72 8129 12.08 1 Mitochondrion inner membrane NA PE2 14 +NX_Q7Z4L5 1316 150937 6.53 0 Mitochondrion;Cilium axoneme Nephronophthisis 12;Joubert syndrome 11;Short-rib thoracic dysplasia 4 with or without polydactyly;Bardet-Biedl syndrome PE1 2 +NX_Q7Z4L9 355 40902 6.81 0 Centrosome;Cytoskeleton NA PE2 8 +NX_Q7Z4M0 266 29155 5.48 0 NA NA PE1 15 +NX_Q7Z4N2 1603 182178 6.4 9 Cytosol;Cell membrane;Nucleoplasm Night blindness, congenital stationary, 1C PE1 15 +NX_Q7Z4N8 544 61126 6.05 0 Endoplasmic reticulum lumen NA PE1 11 +NX_Q7Z4P5 450 46950 9.9 0 Secreted NA PE1 2 +NX_Q7Z4Q2 680 74583 5.02 0 Cytosol;Nucleus NA PE1 16 +NX_Q7Z4R8 191 20772 4.75 0 Secreted NA PE1 6 +NX_Q7Z4S6 1674 187179 6.05 0 Cell membrane;Cytoskeleton;Cytosol Fibrosis of extraocular muscles, congenital, 1 PE1 12 +NX_Q7Z4S9 175 19279 9.18 0 NA NA PE2 2 +NX_Q7Z4T8 443 51427 8.88 1 Late endosome membrane NA PE2 7 +NX_Q7Z4T9 603 70999 7.34 0 Cytoplasm;Mitochondrion;Cilium axoneme NA PE1 3 +NX_Q7Z4U5 140 16243 10.39 0 NA NA PE2 6 +NX_Q7Z4V0 828 91836 9.49 0 Cytosol;Nucleus;Nucleoplasm NA PE1 10 +NX_Q7Z4V5 671 74317 7.11 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q7Z4W1 244 25913 8.33 0 Nucleolus;Cytoskeleton;Membrane Pentosuria PE1 17 +NX_Q7Z4W2 148 16656 8.04 0 Secreted NA PE1 10 +NX_Q7Z4W3 81 8247 8.57 0 NA NA PE3 21 +NX_Q7Z4Y8 100 11037 9.91 0 Mitochondrion membrane NA PE5 22 +NX_Q7Z553 956 107436 6.88 0 Cell membrane NA PE1 14 +NX_Q7Z569 592 67305 5.64 0 Cytosol;Cytoplasm;Nucleus membrane NA PE1 12 +NX_Q7Z570 1209 136888 8.19 0 Endoplasmic reticulum NA PE2 2 +NX_Q7Z572 469 52207 6.74 0 Cytosol;Cytoplasmic vesicle NA PE2 1 +NX_Q7Z589 1322 141468 9.37 0 Nucleus;Nucleoplasm NA PE1 11 +NX_Q7Z591 1439 155139 5.91 0 Centrosome;Nucleus;Nucleoplasm NA PE1 9 +NX_Q7Z5A4 293 32006 6.93 0 Secreted NA PE1 3 +NX_Q7Z5A7 132 14301 9.32 1 Membrane;Secreted NA PE1 22 +NX_Q7Z5A8 133 14776 8.71 0 Secreted NA PE2 1 +NX_Q7Z5A9 133 14901 8.49 0 Endoplasmic reticulum;Secreted NA PE1 3 +NX_Q7Z5B4 369 41092 5.04 1 Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE1 11 +NX_Q7Z5D8 188 22750 9.73 0 Nucleus NA PE2 12 +NX_Q7Z5G4 137 15824 6.6 0 Golgi apparatus membrane NA PE1 8 +NX_Q7Z5H3 698 76779 8.4 0 Cell membrane;Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA PE1 10 +NX_Q7Z5H4 357 40779 9.35 7 Cell membrane NA PE2 1 +NX_Q7Z5H5 301 33557 9.58 7 Cell membrane NA PE2 19 +NX_Q7Z5J1 315 34288 9.76 0 Cytoplasmic vesicle;Secreted NA PE2 19 +NX_Q7Z5J4 1906 203352 9.03 0 Nucleoplasm;Cytoplasm;Nucleus Smith-Magenis syndrome PE1 17 +NX_Q7Z5J8 1434 162026 8.39 1 Nucleus;Microtubule organizing center;Membrane NA PE1 2 +NX_Q7Z5K2 1190 132946 5.27 0 Nucleus;Cytoplasm;Chromosome NA PE1 10 +NX_Q7Z5L0 202 21534 4.9 0 Secreted NA PE1 17 +NX_Q7Z5L2 792 87884 5.01 0 Nucleus speckle;Nucleoplasm NA PE1 10 +NX_Q7Z5L3 287 29468 5.5 0 Secreted NA PE1 2 +NX_Q7Z5L4 167 19186 6.44 0 Mitochondrion outer membrane NA PE1 11 +NX_Q7Z5L7 613 68976 6.51 0 Extracellular matrix;Cytoplasm NA PE1 1 +NX_Q7Z5L9 587 61025 9 0 Nucleus;Nucleoplasm;Cytoplasm NA PE1 1 +NX_Q7Z5M5 1100 125685 9.28 10 Membrane;Cytosol NA PE2 15 +NX_Q7Z5M8 362 40776 8.57 0 Nucleus NA PE2 14 +NX_Q7Z5N4 2213 242112 5.99 1 Cytosol;Cell membrane;Synapse NA PE1 7 +NX_Q7Z5P4 300 33655 9.14 0 Secreted;Golgi apparatus;Cytoplasmic vesicle NA PE1 4 +NX_Q7Z5P9 8384 805253 4.97 0 Secreted NA PE1 12 +NX_Q7Z5Q1 589 64944 6.78 0 Nucleoplasm;Cytosol;Cytoplasm NA PE1 4 +NX_Q7Z5Q5 900 100307 8.57 0 Nucleus;Nucleoplasm NA PE1 4 +NX_Q7Z5R6 666 73183 5.39 0 Cytosol;Cell membrane;Cell membrane;Lamellipodium;Focal adhesion;Cytoskeleton NA PE1 10 +NX_Q7Z5S9 345 37653 6.63 10 Mitochondrion;Membrane NA PE2 4 +NX_Q7Z5U6 358 38989 6.07 0 Cell membrane;Cytosol NA PE1 3 +NX_Q7Z5V6 425 47295 8.74 0 NA NA PE1 11 +NX_Q7Z5W3 292 33200 6.22 0 Cytoplasm;Cytosol;Nucleus NA PE1 12 +NX_Q7Z5Y6 402 44798 9.06 0 Secreted NA PE2 1 +NX_Q7Z5Y7 419 47480 5.16 0 Nucleus speckle;Endoplasmic reticulum;Cytoplasm NA PE1 6 +NX_Q7Z601 462 51106 9.52 7 Cell membrane;Cell junction;Cell membrane;Cytosol NA PE2 17 +NX_Q7Z602 305 35464 9.41 7 Cell membrane NA PE2 7 +NX_Q7Z614 316 36178 8.94 0 Early endosome membrane;Cell membrane;Cytoplasm;Nucleus;Nucleoplasm NA PE1 16 +NX_Q7Z624 323 36128 6.38 0 Nucleus;Cytoplasm;Nucleus;Golgi apparatus NA PE1 2 +NX_Q7Z628 596 67740 9.31 0 Cytoplasmic vesicle;Nucleus;Cytoplasm;Nucleus NA PE1 10 +NX_Q7Z692 300 32638 5.74 1 Mitochondrion;Membrane;Nucleus;Nucleolus NA PE2 19 +NX_Q7Z695 626 68982 9.03 1 Centrosome;Membrane;Cytosol NA PE1 7 +NX_Q7Z698 418 47558 6.32 0 Cytosol;Cell membrane;Cytoplasm;Nucleoplasm;Secretory vesicle membrane NA PE1 2 +NX_Q7Z699 444 50477 6.12 0 Nucleus;Cell membrane;Caveola;Nucleus Neurofibromatosis 1-like syndrome PE1 15 +NX_Q7Z6A9 289 32834 6.09 1 Membrane NA PE1 3 +NX_Q7Z6B0 441 49971 5.03 0 trans-Golgi network;Golgi apparatus;Nucleoplasm;Membrane;trans-Golgi network membrane NA PE1 12 +NX_Q7Z6B7 1085 124264 6.36 0 Nucleus speckle Thyroid cancer, non-medullary, 2 PE1 12 +NX_Q7Z6E9 1792 201564 9.65 0 Nucleolus;Nucleus speckle;Chromosome;Centrosome NA PE1 16 +NX_Q7Z6G3 386 43194 5.33 0 Dendrite;Cytoplasm;Cytoplasmic vesicle;Cell membrane;Axon NA PE1 16 +NX_Q7Z6G8 1248 138066 5.93 0 Cytoplasmic vesicle;Cell membrane;Cajal body;Cytoplasm;Cytosol;Nucleus;Postsynaptic density;Dendritic spine NA PE1 12 +NX_Q7Z6I5 190 20418 5.23 0 Mitochondrion;Cell membrane;Nucleoplasm;Cytosol NA PE1 3 +NX_Q7Z6I6 1101 118582 4.75 0 Cytoplasmic vesicle;Cytoplasmic vesicle NA PE1 1 +NX_Q7Z6I8 188 20132 9.87 0 Nucleus NA PE1 5 +NX_Q7Z6J0 888 93129 8.85 0 trans-Golgi network;Cytoplasmic vesicle;Cytoskeleton;Perinuclear region;Cytoplasm;Lamellipodium NA PE1 4 +NX_Q7Z6J2 395 42623 9.01 0 Cytoplasmic vesicle;Nucleus;Cell membrane;Postsynaptic cell membrane;Perinuclear region NA PE1 12 +NX_Q7Z6J4 655 74892 6.51 0 Cytoskeleton;Cytoplasm;Nucleus;Early endosome;Early endosome membrane;Ruffle membrane NA PE1 6 +NX_Q7Z6J6 570 65065 8.62 1 Membrane;Centrosome;Golgi apparatus;Adherens junction NA PE1 15 +NX_Q7Z6J8 389 43657 8.51 0 Cytoplasm;Cytoplasm NA PE1 6 +NX_Q7Z6J9 526 58819 8.04 0 Nucleus;Nucleolus Pontocerebellar hypoplasia 5;Pontocerebellar hypoplasia 2A;Pontocerebellar hypoplasia 4 PE1 17 +NX_Q7Z6K1 395 45416 6.26 0 Nucleus;Nucleus NA PE1 7 +NX_Q7Z6K3 402 46405 6.5 0 Cytoplasm;Microtubule organizing center NA PE1 9 +NX_Q7Z6K4 114 12492 6.82 0 Nucleoplasm;Cytosol NA PE2 9 +NX_Q7Z6K5 226 24943 5.57 0 Lamellipodium NA PE1 15 +NX_Q7Z6L0 340 34945 4.64 2 Cell membrane;Synapse;Cell membrane Seizures, benign familial infantile, 2;Episodic kinesigenic dyskinesia 1;Convulsions, familial infantile, with paroxysmal choreoathetosis PE1 16 +NX_Q7Z6L1 1165 129696 5.83 0 Cytoplasmic vesicle;Lysosome membrane;Autophagosome membrane NA PE1 7 +NX_Q7Z6M1 372 40565 5.8 0 Cell membrane;Cytoplasm;Endosome membrane NA PE1 9 +NX_Q7Z6M2 555 62630 6.95 0 Nucleoplasm NA PE1 14 +NX_Q7Z6M3 343 38735 7.91 1 Cell membrane NA PE1 17 +NX_Q7Z6M4 381 43958 4.71 0 Cytosol;Mitochondrion;Mitochondrion NA PE1 2 +NX_Q7Z6P3 723 77638 4.83 0 Cell membrane NA PE1 6 +NX_Q7Z6R9 452 49578 8.41 0 Nucleus NA PE1 6 +NX_Q7Z6V5 191 21046 6.34 0 Cytosol;Golgi apparatus;Nucleoplasm NA PE1 6 +NX_Q7Z6W1 182 20071 8.9 1 Membrane NA PE1 1 +NX_Q7Z6W7 309 35434 5.34 0 NA NA PE2 22 +NX_Q7Z6Z6 429 47912 6.31 0 NA NA PE2 22 +NX_Q7Z6Z7 4374 481891 5.1 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Mental retardation, X-linked, syndromic, Turner type;Mental retardation, X-linked 17 PE1 X +NX_Q7Z713 158 16872 5.75 0 Nucleus;Cytoplasm;Nucleus;Cytosol;Mitochondrion NA PE2 4 +NX_Q7Z736 793 85317 8.07 0 Golgi apparatus NA PE1 17 +NX_Q7Z739 585 63861 9.07 0 Cytoplasm;Nucleus speckle;Cytosol;Nucleus membrane;Cytosol NA PE1 8 +NX_Q7Z745 1585 180781 5.9 0 Cytoplasm;Acrosome;Flagellum NA PE1 5 +NX_Q7Z769 313 35066 9.29 9 Membrane NA PE2 12 +NX_Q7Z794 578 61901 5.73 0 Nucleus membrane;Cell membrane NA PE1 12 +NX_Q7Z7A1 2325 268886 5.44 0 Cytosol;Centrosome;Midbody ring;Centrosome NA PE1 9 +NX_Q7Z7A3 348 36450 9.48 0 Cytoplasm NA PE1 19 +NX_Q7Z7A4 578 64950 9.41 0 Cell membrane;Microtubule organizing center;Cytosol;Cell membrane;Cytoplasm NA PE1 3 +NX_Q7Z7B0 1213 138109 8.46 0 Cell membrane;Cytoskeleton;Cytoskeleton NA PE1 6 +NX_Q7Z7B1 504 56882 9.31 12 Cell membrane;Endoplasmic reticulum membrane Hyperphosphatasia with mental retardation syndrome 5 PE1 17 +NX_Q7Z7B7 95 10610 9.72 0 Secreted NA PE1 20 +NX_Q7Z7B8 93 10650 9.08 0 Secreted NA PE2 20 +NX_Q7Z7C7 330 36908 4.97 0 Cytoplasm;Nucleus NA PE1 7 +NX_Q7Z7C8 310 34262 6.03 0 Nucleus;Cytoplasm;Nucleus NA PE1 6 +NX_Q7Z7D3 282 30878 5.2 1 Focal adhesion;Cell junction;Cell membrane;Cell membrane NA PE1 1 +NX_Q7Z7E8 422 46127 4.96 0 Centrosome;Nucleoplasm;Cytosol;Nucleus;Filopodium NA PE1 1 +NX_Q7Z7F0 614 64845 8.84 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 1 +NX_Q7Z7F7 128 15128 11.15 0 Mitochondrion NA PE1 1 +NX_Q7Z7G0 1075 118642 9.48 0 Nucleolus;Centrosome;Nucleus speckle;Cytosol;Secreted NA PE1 3 +NX_Q7Z7G1 428 49554 9.11 0 Cytoplasmic vesicle NA PE1 4 +NX_Q7Z7G2 160 18336 4.54 0 Membrane;Synapse NA PE1 18 +NX_Q7Z7G8 4022 448664 6.03 0 Cell junction Cohen syndrome PE1 8 +NX_Q7Z7H3 387 43900 5.28 0 Cytoskeleton;Cell membrane;Cytoplasm;Nucleus NA PE1 2 +NX_Q7Z7H5 227 25943 8.41 1 Endoplasmic reticulum membrane NA PE1 7 +NX_Q7Z7H8 261 29283 9.63 0 Mitochondrion;Mitochondrion NA PE1 17 +NX_Q7Z7J5 298 33784 9.35 0 Nucleus;Nucleus NA PE1 3 +NX_Q7Z7J7 247 27007 6.85 4 Golgi apparatus;Nucleus;Membrane NA PE1 3 +NX_Q7Z7J9 78 8553 5.22 0 Synaptosome;Postsynaptic density NA PE1 1 +NX_Q7Z7K0 106 12490 8.89 0 Mitochondrion NA PE1 3 +NX_Q7Z7K2 595 65124 9.12 0 Nucleus;Mitochondrion NA PE1 7 +NX_Q7Z7K6 275 29946 9.78 0 Cytosol;Kinetochore;Nucleus;Spindle;Nucleoplasm NA PE1 17 +NX_Q7Z7L1 901 102836 8 0 Nucleus;Nucleoplasm;Nucleus NA PE1 17 +NX_Q7Z7L7 766 88169 5.43 0 Cytosol NA PE1 9 +NX_Q7Z7L8 435 46114 10.04 0 Cytosol;Nucleus;Focal adhesion NA PE1 11 +NX_Q7Z7L9 614 69547 7.04 0 Nucleus;Cytosol;Nucleoplasm NA PE1 15 +NX_Q7Z7M0 2845 303100 6.45 1 Membrane Carpenter syndrome 2 PE1 19 +NX_Q7Z7M1 963 104087 8.33 7 Membrane NA PE2 9 +NX_Q7Z7M8 397 43396 8.66 1 Golgi apparatus membrane NA PE1 19 +NX_Q7Z7M9 940 106266 9.51 1 Cytosol;Golgi apparatus membrane;Nucleolus;Golgi apparatus;Cytoplasmic vesicle NA PE1 2 +NX_Q7Z7N9 219 23550 8.1 4 Nucleus speckle;Membrane NA PE1 11 +NX_Q86SE5 291 32331 7.69 0 Nucleoplasm NA PE1 8 +NX_Q86SE8 214 24152 4.97 0 Nucleus;Nucleolus;Nucleus NA PE1 8 +NX_Q86SE9 256 29714 6.11 0 Centrosome;Nucleoplasm;Nucleolus;Nucleus NA PE1 10 +NX_Q86SF2 657 75389 6.67 1 Nucleus;Golgi apparatus membrane;Golgi apparatus NA PE1 4 +NX_Q86SG2 305 34297 9.51 0 Nucleus;Nucleoplasm;Cytoskeleton NA PE1 2 +NX_Q86SG3 579 64785 9.23 0 Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 PE1 Y +NX_Q86SG4 172 20403 9.89 0 NA NA PE5 15 +NX_Q86SG5 101 11305 6.89 0 Cytoplasm NA PE1 1 +NX_Q86SG6 692 74806 8.02 0 Cytoplasm;Cytoskeleton;Cilium Renal-hepatic-pancreatic dysplasia 2;Nephronophthisis 9 PE1 17 +NX_Q86SG7 212 23498 9.03 0 Secreted NA PE1 2 +NX_Q86SH2 424 45873 9.31 0 Cytoplasm NA PE1 4 +NX_Q86SH4 94 10756 9.57 0 Secreted NA PE5 20 +NX_Q86SI9 138 15091 11.42 0 Secreted;Cytoplasmic vesicle;Golgi apparatus NA PE2 5 +NX_Q86SJ2 522 57934 8.73 1 Cell membrane;Cell membrane;Cytosol;Nucleus;Golgi apparatus NA PE1 12 +NX_Q86SJ6 1040 113824 4.42 1 Desmosome;Cell membrane Hypotrichosis 6 PE1 18 +NX_Q86SK9 330 37610 9.65 4 Endoplasmic reticulum membrane NA PE1 4 +NX_Q86SM5 289 31518 9.59 7 Cell membrane NA PE2 11 +NX_Q86SM8 312 34286 8.49 7 Cell membrane NA PE2 11 +NX_Q86SP6 731 80984 6.56 7 Cell membrane NA PE2 3 +NX_Q86SQ0 1253 142158 7.06 0 Membrane;Cell membrane;Cytosol;Cytoplasm NA PE1 3 +NX_Q86SQ3 457 50903 8.7 7 Cell membrane;Secreted NA PE5 19 +NX_Q86SQ4 1221 136695 8.18 7 Cell membrane Lethal congenital contracture syndrome 9 PE1 6 +NX_Q86SQ6 560 60885 8.25 7 Membrane NA PE1 10 +NX_Q86SQ7 713 82682 5.59 0 Centrosome;Cytoplasm;Cell junction;Centriole Senior-Loken syndrome 7;Bardet-Biedl syndrome 16 PE1 1 +NX_Q86SQ9 333 38657 8.56 0 Cell membrane;Endoplasmic reticulum membrane Retinitis pigmentosa 59 PE1 1 +NX_Q86SR1 603 68992 8.84 1 Nucleoplasm;Cell membrane;Golgi apparatus;Golgi apparatus membrane NA PE1 5 +NX_Q86SS6 491 56188 6.79 1 Synaptic vesicle membrane NA PE1 11 +NX_Q86SU0 546 62815 9.12 1 Cell membrane;Cytosol Deafness, autosomal recessive, 42 PE1 3 +NX_Q86SX3 495 54231 8.4 0 Cytosol;Nucleoplasm;Golgi apparatus NA PE1 14 +NX_Q86SX6 157 16628 6.28 0 Mitochondrion;Mitochondrion matrix Anemia, sideroblastic, 3, pyridoxine-refractory;Spasticity, childhood-onset, with hyperglycinemia PE1 14 +NX_Q86SY8 53 5770 5.43 0 NA NA PE5 14 +NX_Q86SZ2 158 17983 8.88 0 Endoplasmic reticulum;Endoplasmic reticulum;cis-Golgi network NA PE1 14 +NX_Q86T03 277 29470 9.24 2 Late endosome membrane;Lysosome membrane NA PE1 14 +NX_Q86T13 490 51636 5.98 1 Golgi apparatus;Endoplasmic reticulum;Membrane NA PE1 14 +NX_Q86T20 159 17113 9.03 0 Secreted NA PE2 6 +NX_Q86T23 111 12396 4.45 0 NA NA PE5 1 +NX_Q86T24 672 74484 4.97 0 Nucleus;Cytosol;Nucleus;Cell membrane;Nucleus;Cytoplasm NA PE1 X +NX_Q86T26 416 46337 9.04 1 Endoplasmic reticulum;Cell membrane NA PE1 4 +NX_Q86T29 641 74376 9.32 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA PE1 12 +NX_Q86T65 1068 123499 6.36 0 Cytosol;Nucleus NA PE1 6 +NX_Q86T75 865 99433 4.75 0 Cytoplasm NA PE2 1 +NX_Q86T82 979 110170 5.87 0 Nucleus;Nucleolus;Nucleus NA PE1 2 +NX_Q86T90 577 65373 8.36 0 Lipid droplet;Cytoplasmic vesicle;Nucleus speckle NA PE1 18 +NX_Q86T96 592 68254 8.89 1 Endoplasmic reticulum membrane;Cytosol;Nucleus envelope NA PE1 5 +NX_Q86TA1 216 25464 8.72 0 NA NA PE1 9 +NX_Q86TA4 180 19528 7.57 0 NA NA PE5 2 +NX_Q86TB3 2170 237013 5.14 0 Cytosol NA PE1 18 +NX_Q86TB9 770 86850 6.22 0 Cytosol;Nucleus speckle;PML body;P-body;Nucleus NA PE1 11 +NX_Q86TC9 1320 145257 6.33 0 Cytoskeleton;Nucleus;Cytosol;Cytoplasm;Sarcomere;Cytoplasmic vesicle;Nucleus;Z line Cardiomyopathy, familial hypertrophic 22;Cardiomyopathy, dilated 1KK;Nemaline myopathy 11;Cardiomyopathy, familial restrictive 4 PE1 10 +NX_Q86TD4 932 100788 4.34 0 Sarcoplasmic reticulum lumen NA PE1 16 +NX_Q86TE4 346 38958 8.9 0 Secreted;Cell membrane;Nucleoplasm;Cytosol NA PE1 11 +NX_Q86TG1 271 28835 5.45 6 Nucleoplasm;Cytoplasmic vesicle;Cell membrane NA PE1 2 +NX_Q86TG7 708 80173 5.94 0 Cytosol;Cytoplasm;Nucleus;Nucleus NA PE1 7 +NX_Q86TH1 951 104621 6.02 0 Cytoplasmic vesicle;Nucleoplasm;Secreted Geleophysic dysplasia 1 PE1 9 +NX_Q86TI0 1168 133084 6.52 0 Nucleolus;Nucleus NA PE1 4 +NX_Q86TI2 863 98263 6.01 0 Cytosol;Cytosol;Nucleus NA PE1 19 +NX_Q86TI4 376 40731 8.54 0 NA NA PE2 7 +NX_Q86TJ2 420 48470 7.93 0 Nucleus speckle;Nucleus NA PE1 4 +NX_Q86TJ5 538 60582 7.56 0 Nucleolus;Nucleoplasm;Nucleus NA PE1 19 +NX_Q86TL0 474 52922 8.93 0 Mitochondrion matrix;Cytoplasm;Cytoplasm NA PE1 19 +NX_Q86TL2 294 33187 8.28 5 Cytosol;Endoplasmic reticulum membrane NA PE1 3 +NX_Q86TM3 631 71154 9.16 0 Nucleus NA PE1 X +NX_Q86TM6 617 67685 6.47 5 Endoplasmic reticulum;Endoplasmic reticulum;Cell membrane;Nucleoplasm;Endoplasmic reticulum membrane NA PE1 11 +NX_Q86TN4 253 27742 10.01 0 Mitochondrion NA PE1 11 +NX_Q86TP1 453 50200 5.28 0 Cytoplasm;Focal adhesion;Nucleus;Cytosol Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies PE1 1 +NX_Q86TS7 51 6040 4.72 0 NA NA PE5 14 +NX_Q86TS9 123 13664 10.27 0 Mitochondrion;Mitochondrion NA PE1 14 +NX_Q86TU6 105 12089 9.74 0 NA NA PE5 14 +NX_Q86TU7 594 67257 5.72 0 Nucleus;Mitochondrion NA PE1 14 +NX_Q86TV6 843 94179 6.43 0 Cell membrane;Cytosol;Cell membrane NA PE1 14 +NX_Q86TW2 530 60577 8.84 0 Nucleoplasm;Secreted NA PE1 14 +NX_Q86TX2 421 46277 6.9 0 Cytoplasm NA PE1 14 +NX_Q86TY3 774 84173 4.26 1 Cell membrane;Membrane NA PE1 14 +NX_Q86TZ1 520 59379 5.95 0 Centrosome NA PE1 14 +NX_Q86U02 117 13541 6.01 1 Membrane NA PE5 14 +NX_Q86U06 439 48731 9.86 0 Nucleus;Nucleoplasm;Cytoskeleton NA PE1 14 +NX_Q86U10 573 60883 5.44 0 NA NA PE1 14 +NX_Q86U17 422 46989 7.25 0 Secreted NA PE1 14 +NX_Q86U28 154 16476 5.16 0 Mitochondrion Multiple mitochondrial dysfunctions syndrome 4 PE1 14 +NX_Q86U37 167 18828 9.74 0 NA NA PE2 14 +NX_Q86U38 636 69438 6.86 0 Cytosol;Nucleus;Nucleolus NA PE1 14 +NX_Q86U42 306 32749 5.04 0 Cytoplasm;Nucleus;Nucleus speckle;Cytoplasm;Nucleus Oculopharyngeal muscular dystrophy PE1 14 +NX_Q86U44 580 64474 5.98 0 Nucleus speckle;Cytoplasm;Nucleus NA PE1 14 +NX_Q86U70 411 46533 6.52 0 Nucleoplasm;Nucleus NA PE1 10 +NX_Q86U86 1689 192948 6.46 0 Nucleoplasm;Nucleus Renal cell carcinoma PE1 3 +NX_Q86U90 279 29328 8.9 0 Mitochondrion;Membrane;Mitochondrion NA PE1 1 +NX_Q86UA1 669 78430 5.26 0 Nucleoplasm;Nucleus NA PE1 14 +NX_Q86UA6 219 24784 4.93 0 Nucleolus;Nucleus;Cytoplasm;Nucleus;PML body NA PE1 17 +NX_Q86UB2 503 56774 9.15 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 13 +NX_Q86UB9 458 52291 9.53 6 Peroxisome membrane;Cytoplasmic vesicle;Mitochondrion membrane NA PE1 11 +NX_Q86UC2 560 63687 5.53 0 Cytoplasmic vesicle;Cell membrane;Cytosol;Cilium axoneme Ciliary dyskinesia, primary, 32 PE1 6 +NX_Q86UD0 394 42637 9.14 0 Cytosol;Cytoplasm;Nucleus;Cell cortex;Apical cell membrane;Tight junction;Nucleolus;Nucleus NA PE1 9 +NX_Q86UD1 273 30688 6.39 0 Nucleus NA PE1 11 +NX_Q86UD3 253 28504 8.58 2 Cytoplasmic vesicle membrane;Early endosome membrane NA PE1 5 +NX_Q86UD4 541 61725 8.94 0 Nucleus membrane;Nucleoplasm;Nucleus NA PE1 19 +NX_Q86UD5 537 57564 6.28 12 Apical cell membrane;Basolateral cell membrane;Flagellum membrane;Mitochondrion membrane;Cell membrane;Synaptic vesicle membrane;Endosome membrane;Nucleoplasm;Cell junction NA PE1 4 +NX_Q86UD7 250 28839 9.74 0 NA NA PE2 17 +NX_Q86UE3 836 98405 8.94 0 Cytosol;Nucleus;Nucleus NA PE1 19 +NX_Q86UE4 582 63837 9.33 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus membrane;Endoplasmic reticulum;Tight junction;Nucleolus;Perinuclear region NA PE1 8 +NX_Q86UE6 522 58641 7.01 1 Cell membrane;Postsynaptic cell membrane NA PE1 2 +NX_Q86UE8 772 87661 8.65 0 Nucleus;Cytoskeleton;Perinuclear region NA PE1 17 +NX_Q86UF1 283 31538 6.85 4 Cytoskeleton;Cell membrane NA PE1 7 +NX_Q86UF2 777 87900 5.09 1 Membrane NA PE2 7 +NX_Q86UF4 302 34103 9.62 0 Cytoplasmic vesicle NA PE2 1 +NX_Q86UG4 719 79232 8.93 12 Cell membrane NA PE1 5 +NX_Q86UK0 2595 293237 7.89 14 Membrane Ichthyosis, congenital, autosomal recessive 4A;Ichthyosis, congenital, autosomal recessive 4B PE1 2 +NX_Q86UK5 1308 147948 6.53 1 Mitochondrion;Cell membrane;Cilium basal body;Cilium;Cilium membrane;Nucleus Ellis-van Creveld syndrome;Acrofacial dysostosis, Weyers type PE1 4 +NX_Q86UK7 904 98637 8.75 0 Cytosol;Cell membrane NA PE1 16 +NX_Q86UL3 456 52071 9.28 2 Endoplasmic reticulum membrane NA PE1 8 +NX_Q86UL8 1455 158754 5.95 0 Synaptosome;Cytoplasm;Late endosome;Cell membrane Nephrotic syndrome 15 PE1 7 +NX_Q86UN2 441 49065 9.25 0 Cell membrane;Membrane raft;Perikaryon;Cell projection NA PE1 17 +NX_Q86UN3 420 46106 7.58 0 Axon;Cell membrane;Membrane raft;Dendrite;Perikaryon NA PE1 11 +NX_Q86UN6 197 22815 6.31 0 Cytoplasm NA PE1 X +NX_Q86UP0 819 87752 4.65 1 Nucleoplasm;Cell membrane NA PE1 14 +NX_Q86UP2 1357 156275 5.52 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 14 +NX_Q86UP3 3567 393730 5.94 0 Nucleus;Nucleoplasm;Nucleolus NA PE1 8 +NX_Q86UP6 607 68153 6.05 1 Nucleolus;Cytoplasmic vesicle;Secretory vesicle membrane NA PE1 10 +NX_Q86UP8 949 107231 5.6 0 Nucleus NA PE1 7 +NX_Q86UP9 236 25769 5.69 4 Membrane;Cytoplasmic vesicle NA PE2 7 +NX_Q86UQ0 364 41189 8.61 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q86UQ4 5058 576159 6.01 14 Cytoplasmic vesicle;Membrane;Centrosome;Cytosol NA PE1 7 +NX_Q86UQ5 136 15623 7.12 1 Membrane NA PE5 18 +NX_Q86UQ8 179 19019 9.46 0 Nucleus NA PE1 7 +NX_Q86UR1 476 50933 6.06 0 Cytoplasm;Cell membrane;Cytoplasmic vesicle NA PE1 9 +NX_Q86UR5 1692 189073 9.68 0 Cell membrane;Presynaptic cell membrane;Synapse Cone-rod dystrophy 7 PE1 6 +NX_Q86US8 1419 160462 6.66 0 Nucleolus;Nucleolus;Cytosol;Cytosol;Telomere NA PE1 17 +NX_Q86UT5 571 61032 6.24 0 Cell membrane;Cytoplasm NA PE1 11 +NX_Q86UT6 975 107616 7 0 Cell membrane;Cell junction;Mitochondrion;Mitochondrion outer membrane NA PE1 11 +NX_Q86UT8 332 37974 8.48 0 Cytoplasm;Nucleus NA PE1 11 +NX_Q86UU0 1499 157129 8.79 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q86UU1 1377 151162 8.85 0 Nucleoplasm NA PE1 11 +NX_Q86UU5 652 66699 10.3 0 NA NA PE1 19 +NX_Q86UU9 113 12305 5.24 0 Secreted NA PE1 17 +NX_Q86UV5 1035 119032 5.75 0 Nucleus;Nucleoplasm;Cytoplasm;Cytosol;Mitochondrion NA PE1 1 +NX_Q86UV6 250 28547 5.84 0 NA NA PE1 7 +NX_Q86UV7 250 28517 5.95 0 NA NA PE2 7 +NX_Q86UW1 340 37735 8.89 7 Cell membrane;Endoplasmic reticulum membrane NA PE1 3 +NX_Q86UW2 128 14346 4.58 1 Mitochondrion;Cytoplasmic vesicle;Cell membrane NA PE1 15 +NX_Q86UW6 1770 198801 5.11 0 Centrosome;Cell membrane;Cytoplasm;Nucleoplasm NA PE1 4 +NX_Q86UW7 1296 147735 5.83 0 Cytoplasmic vesicle membrane;Synapse;Nucleoplasm;Cytoplasmic vesicle NA PE1 7 +NX_Q86UW8 402 42801 9.12 0 Extracellular matrix NA PE1 19 +NX_Q86UW9 622 67246 8.79 0 Nucleus membrane;Cytoplasm;Nucleoplasm;Nucleus NA PE1 7 +NX_Q86UX2 942 104576 8.47 0 Secreted;Golgi apparatus;Cytoplasmic vesicle NA PE1 10 +NX_Q86UX6 486 54994 6.16 0 NA NA PE1 10 +NX_Q86UX7 667 75953 6.53 0 Cytoplasmic vesicle;Podosome Leukocyte adhesion deficiency 3 PE1 11 +NX_Q86UY5 434 47458 9.04 0 Nucleoplasm;Cytoplasm NA PE1 8 +NX_Q86UY6 237 27194 7.06 0 Nucleus;Nucleus;Cytoplasm NA PE1 11 +NX_Q86UY8 548 63420 8.46 0 Cytosol;Mitochondrion NA PE1 12 +NX_Q86UZ6 589 64083 5.55 0 Nucleus;Nucleus NA PE1 20 +NX_Q86V15 1759 190069 6.59 0 Cytosol;Nucleus;Nucleoplasm NA PE1 1 +NX_Q86V20 835 93705 6.41 0 Nucleoplasm;Cytoskeleton NA PE1 10 +NX_Q86V21 672 75144 5.86 0 Cytosol;Cytoplasmic vesicle NA PE1 12 +NX_Q86V24 386 43884 6.11 7 Cell membrane NA PE1 12 +NX_Q86V25 355 40450 10.02 0 Secreted;Cytosol NA PE1 1 +NX_Q86V35 215 24453 4.56 1 trans-Golgi network membrane;Perinuclear region;Cell membrane NA PE1 22 +NX_Q86V40 505 57676 9.03 1 Cell membrane NA PE1 2 +NX_Q86V42 546 60104 6.12 0 Nucleus;Cytosol NA PE1 13 +NX_Q86V48 1076 120275 8.67 0 Cytosol;Cytoplasmic vesicle;Nucleus;Cytoskeleton NA PE1 1 +NX_Q86V59 439 48161 9.09 0 Nucleus;Nucleoplasm;Nucleus;Cytosol NA PE1 19 +NX_Q86V71 674 78152 9.5 0 Nucleus;Nucleus NA PE2 19 +NX_Q86V81 257 26888 11.15 0 Nucleus;Nucleus speckle;Cytoplasm;Nucleus NA PE1 17 +NX_Q86V85 440 49395 7.01 7 Membrane;Cytoplasmic vesicle NA PE1 13 +NX_Q86V86 326 35891 5.75 0 Cytosol;Cytoplasm NA PE1 22 +NX_Q86V87 743 82340 5.27 0 Cytosol;Nucleoplasm NA PE1 8 +NX_Q86V88 176 20109 5.95 0 Nucleoplasm NA PE1 14 +NX_Q86V97 674 76138 5.74 0 NA NA PE1 13 +NX_Q86VB7 1156 125451 5.61 1 Cell membrane;Cell membrane;Secreted NA PE1 12 +NX_Q86VD1 984 112881 8.11 0 Nucleus NA PE1 3 +NX_Q86VD7 318 35409 10.08 6 Mitochondrion inner membrane;Mitochondrion NA PE1 19 +NX_Q86VD9 579 63471 8.66 8 Endoplasmic reticulum membrane;Cytoplasmic vesicle NA PE2 3 +NX_Q86VE0 399 42508 10.08 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q86VE3 508 55833 5.17 0 NA NA PE1 X +NX_Q86VE9 423 47009 7.88 9 Nucleus;Cell membrane;Perinuclear region;Golgi apparatus;Cytoplasmic vesicle NA PE1 5 +NX_Q86VF2 1251 137763 7.51 0 Midbody ring;Nucleus;Z line NA PE1 1 +NX_Q86VF5 341 38730 8.86 3 Centrosome;Endoplasmic reticulum membrane NA PE1 7 +NX_Q86VF7 1730 197074 9.24 0 Centrosome NA PE1 10 +NX_Q86VG3 221 25407 4.39 0 Cytosol NA PE1 11 +NX_Q86VH2 1401 160283 6.9 0 Cytoskeleton;Cilium NA PE1 9 +NX_Q86VH4 590 67217 9.12 1 Postsynaptic cell membrane;Cell membrane NA PE1 2 +NX_Q86VH5 581 65896 9.28 1 Cell membrane;Postsynaptic cell membrane NA PE1 10 +NX_Q86VI1 746 81678 5.44 0 Cell membrane;Cytoplasmic vesicle;Secretory vesicle NA PE2 16 +NX_Q86VI3 1631 184699 7.34 0 Nucleolus;Nucleus NA PE1 1 +NX_Q86VI4 370 41146 9.22 4 Golgi apparatus;Late endosome membrane;Cell membrane;Cell projection;Lysosome membrane;Endomembrane system;Endosome membrane;Multivesicular body membrane;Multivesicular body lumen NA PE1 8 +NX_Q86VK4 478 52113 5.86 0 Nucleus;Nucleus NA PE1 14 +NX_Q86VL8 602 65085 8.63 13 Endoplasmic reticulum;Cell membrane NA PE1 17 +NX_Q86VM9 953 106378 8.39 0 Nucleus;Nucleus speckle NA PE1 16 +NX_Q86VN1 386 43817 6.75 0 Cytoplasm;Endosome;Late endosome;Cell membrane;Cell junction;Lysosome;Cytoplasmic vesicle;Membrane;Nucleus NA PE1 13 +NX_Q86VP1 789 90877 5.3 0 Nucleoplasm;Cytosol;Nucleus NA PE1 7 +NX_Q86VP3 889 97702 6.15 0 Mitochondrion;Endoplasmic reticulum;Mitochondrion NA PE1 14 +NX_Q86VP6 1230 136376 5.52 0 Cytosol;Golgi apparatus;Cytoplasm;Nucleus;Nucleoplasm NA PE1 12 +NX_Q86VQ0 697 80554 7.31 0 Centrosome;Cilium basal body;Cilium axoneme;Cytoskeleton Leber congenital amaurosis 5 PE1 6 +NX_Q86VQ1 547 58024 9.54 0 Nucleolus NA PE1 7 +NX_Q86VQ3 553 60404 4.81 0 Cytoplasm;Cytosol;Nucleus NA PE1 18 +NX_Q86VQ6 643 70683 8.13 0 Nucleus;Microsome;Cytoplasm;Endoplasmic reticulum NA PE1 3 +NX_Q86VR2 466 51396 4.83 3 Membrane;Nucleoplasm;Cytosol;Nucleus membrane NA PE1 17 +NX_Q86VR7 867 91625 7.91 1 Nucleus;Membrane NA PE1 19 +NX_Q86VR8 437 48507 10.66 0 Cytoplasmic vesicle;Secreted NA PE2 11 +NX_Q86VS3 1027 117349 9.19 0 Cytosol NA PE1 15 +NX_Q86VS8 718 83126 5.12 0 Cytoskeleton;Cytosol;Golgi apparatus;Microtubule organizing center;Golgi apparatus NA PE1 8 +NX_Q86VU5 262 28809 8.71 1 Membrane;Golgi apparatus;Cell membrane;Cytosol NA PE1 10 +NX_Q86VV4 465 52211 9.15 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 5 +NX_Q86VV8 2226 248630 6.25 0 Cilium basal body Microcephaly, short stature, and polymicrogyria with or without seizures PE1 18 +NX_Q86VW0 696 79348 4.99 0 Cytosol;Microtubule organizing center NA PE1 2 +NX_Q86VW1 577 64614 8.44 12 Membrane;Cell membrane NA PE1 6 +NX_Q86VW2 580 63843 6.19 0 Cytoplasmic vesicle;Cell membrane;Sarcomere NA PE1 12 +NX_Q86VX2 200 22540 5.69 0 Cytoplasmic vesicle;Cytoplasmic vesicle NA PE1 20 +NX_Q86VX9 555 62131 5.9 0 Cytosol NA PE1 3 +NX_Q86VY4 417 45143 9.57 0 Cytosol;Golgi apparatus NA PE1 8 +NX_Q86VY9 491 54356 9.24 2 Membrane NA PE1 6 +NX_Q86VZ1 359 40635 9.62 7 Cell membrane NA PE1 X +NX_Q86VZ2 330 36338 7.53 0 NA NA PE1 3 +NX_Q86VZ4 500 53311 6.04 1 Membrane;Mitochondrion NA PE1 6 +NX_Q86VZ5 419 49208 8.66 5 Cytosol;Golgi apparatus membrane;Nucleoplasm NA PE1 10 +NX_Q86VZ6 243 27079 8.63 0 Nucleus;Nucleus;Nucleolus NA PE1 7 +NX_Q86W10 505 59086 9.29 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 1 +NX_Q86W11 494 56364 6.24 0 Nucleus;Nucleoplasm;Cytosol NA PE1 18 +NX_Q86W24 1093 124733 6.18 0 Cytosol NA PE1 11 +NX_Q86W25 1043 118884 5.43 0 NA NA PE1 19 +NX_Q86W26 655 75032 6.81 0 Cell membrane;Nucleoplasm;Cytoplasm;Nucleus membrane NA PE1 11 +NX_Q86W28 1048 119430 8.32 0 Cytoplasm NA PE2 19 +NX_Q86W33 373 41053 5.72 7 Cytoplasmic vesicle;Membrane NA PE1 3 +NX_Q86W34 360 41263 8.41 0 Nucleus;Nucleoplasm;Cytosol NA PE1 17 +NX_Q86W42 341 37535 7.12 0 Nucleus speckle;Nucleus;Nucleoplasm;Nucleus speckle Beaulieu-Boycott-Innes syndrome PE1 16 +NX_Q86W47 210 23949 6.29 2 Membrane;Cytosol NA PE1 12 +NX_Q86W50 562 63621 8.08 0 Nucleoplasm;Nucleus;Cytosol NA PE1 17 +NX_Q86W54 205 23587 7.77 0 Nucleus;Cytosol;Cytoplasm;Nucleolus;Nucleoplasm NA PE1 5 +NX_Q86W56 976 111110 6.03 0 Mitochondrion matrix;Nucleus;Nucleus;Cytoplasm;Cytoplasmic vesicle;Mitochondrion NA PE1 10 +NX_Q86W67 206 23752 9.07 0 NA NA PE2 2 +NX_Q86W74 232 25967 6.65 1 Cytosol;Membrane NA PE1 8 +NX_Q86W92 1011 114024 5.4 0 Cytoplasm;Cell membrane;Cytosol NA PE1 12 +NX_Q86WA6 291 32543 9.2 0 Mitochondrion;Nucleoplasm NA PE1 6 +NX_Q86WA8 852 94617 6.88 0 Peroxisome matrix NA PE1 16 +NX_Q86WA9 606 65299 7.02 12 Golgi apparatus;Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Lysosome membrane NA PE1 17 +NX_Q86WB0 502 55262 5.44 0 Nucleus;Nucleus;Nucleus membrane;Nucleus NA PE1 7 +NX_Q86WB7 457 50270 7.46 11 Cell membrane NA PE1 6 +NX_Q86WC4 334 37257 5.69 1 Lysosome membrane;Nucleus;Cytoplasmic vesicle;Cytosol Osteopetrosis, autosomal recessive 5 PE1 6 +NX_Q86WC6 154 17438 6.51 0 NA NA PE1 17 +NX_Q86WD7 417 46557 9.58 0 Secreted;Cytoplasm;Membrane NA PE1 14 +NX_Q86WG3 371 42120 4.54 0 Mitochondrion envelope;Cytoplasm;Synapse;Dendrite;Axon Cerebellar ataxia, cayman type PE1 19 +NX_Q86WG5 1849 208464 6.62 0 Cytosol;Nucleoplasm;Cytoskeleton;Cytoplasm;Membrane Charcot-Marie-Tooth disease 4B2 PE1 11 +NX_Q86WH2 238 27562 7.02 0 Cytoplasm;Cytoskeleton;Cell membrane;Cytosol NA PE1 12 +NX_Q86WI0 220 23777 8.39 3 Membrane NA PE2 X +NX_Q86WI1 4243 465734 5.71 1 Membrane NA PE1 8 +NX_Q86WI3 1866 204595 5.99 0 Centrosome;Cytoplasm NA PE1 16 +NX_Q86WJ1 897 100984 6.45 0 Nucleus;Nucleoplasm NA PE1 1 +NX_Q86WK6 493 55239 6.22 1 Cell membrane;Nucleoplasm;Nucleus;Perikaryon;Dendrite;Axon NA PE1 1 +NX_Q86WK7 504 55250 8.11 1 Membrane NA PE2 3 +NX_Q86WK9 346 39719 6.99 7 Cytosol;Cell membrane NA PE1 1 +NX_Q86WN1 690 76942 5.23 0 Cytosol;Nucleoplasm NA PE1 5 +NX_Q86WN2 208 24414 8.75 0 Secreted NA PE2 9 +NX_Q86WP2 473 53339 6.56 0 Cytoplasm;Cytosol;Cell membrane;Cytoplasmic vesicle;Nucleus;Cytoplasm NA PE1 5 +NX_Q86WQ0 139 15876 5.77 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q86WR0 208 24479 6.34 0 Nucleoplasm;Cytosol;Golgi apparatus NA PE1 8 +NX_Q86WR6 236 27182 9.65 0 Nucleoplasm;Cytoplasmic vesicle NA PE2 17 +NX_Q86WR7 435 45802 6.74 0 Cytosol;Cell membrane NA PE1 10 +NX_Q86WS3 158 17971 4.71 0 Secreted NA PE1 11 +NX_Q86WS4 652 74505 8.21 0 NA NA PE1 12 +NX_Q86WS5 348 38605 8.91 1 Membrane NA PE1 12 +NX_Q86WT1 665 76136 5.11 0 Cilium NA PE1 2 +NX_Q86WT6 500 57419 6.04 0 Nucleus speckle;Nucleus;Cytoplasm NA PE1 15 +NX_Q86WU2 507 54871 6.2 0 Mitochondrion;Cytosol NA PE1 16 +NX_Q86WV1 359 41432 4.47 0 Cell membrane;Nucleus;Cytoplasm NA PE1 17 +NX_Q86WV5 123 13856 7.76 0 Nucleus;Nucleus;Telomere NA PE1 17 +NX_Q86WV6 379 42193 6.6 4 Cytosol;Cytoplasm;Perinuclear region;Cell membrane;Mitochondrion outer membrane;Endoplasmic reticulum membrane STING-associated vasculopathy, infantile-onset PE1 5 +NX_Q86WW8 74 8376 8.97 0 Mitochondrion Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 PE1 2 +NX_Q86WX3 136 15434 10.75 0 Nucleus;Nucleus;Cytosol;Nucleolus;Nucleolus;Nucleolus NA PE1 22 +NX_Q86WZ0 1026 117175 9.21 0 NA NA PE1 14 +NX_Q86WZ6 799 92033 9.1 0 Nucleus;Cell membrane NA PE1 19 +NX_Q86X02 465 53010 5.7 0 Cytosol NA PE1 17 +NX_Q86X10 1494 166799 6.33 0 Nucleus speckle NA PE1 20 +NX_Q86X19 198 23046 6.3 4 Cytoskeleton;Cilium membrane Orofaciodigital syndrome 6 PE1 2 +NX_Q86X24 394 45200 5.66 0 Nucleus;Nucleoplasm;Nucleus;Chromosome NA PE1 1 +NX_Q86X27 583 65167 8.86 0 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA PE1 1 +NX_Q86X29 649 71439 8.29 1 Cell membrane;Nucleoplasm;Cell membrane;Cytosol NA PE1 19 +NX_Q86X40 367 41912 8.18 0 Nucleus;Mitochondrion;Golgi apparatus NA PE1 15 +NX_Q86X45 466 54255 6.08 0 Cytoplasm;Cilium Ciliary dyskinesia, primary, 19 PE1 8 +NX_Q86X51 503 51894 10.15 0 Nucleoplasm NA PE1 X +NX_Q86X52 802 91784 9.31 1 Golgi stack membrane;Secreted Temtamy preaxial brachydactyly syndrome PE1 15 +NX_Q86X53 443 48984 4.68 0 Nucleolus;Cytosol;Nucleus NA PE1 8 +NX_Q86X55 608 65854 6.25 0 Nucleus;Nucleoplasm;Cytoplasm NA PE1 19 +NX_Q86X59 251 25393 10.38 0 NA NA PE1 17 +NX_Q86X60 149 16617 5.54 0 NA NA PE2 1 +NX_Q86X67 352 39688 7.11 0 Nucleus NA PE2 10 +NX_Q86X76 327 35896 7.91 0 Mitochondrion;Cytoplasm NA PE1 1 +NX_Q86X83 199 22745 6.24 0 Nucleus;Nucleoplasm;Cytoplasm NA PE1 3 +NX_Q86X95 450 52313 9.88 0 Nucleus speckle;Nucleus speckle;Centrosome NA PE1 2 +NX_Q86XA0 190 21469 4.91 1 Cytoplasm;Membrane Mental retardation, autosomal recessive 44 PE1 17 +NX_Q86XA9 2040 222004 6.14 0 NA NA PE1 14 +NX_Q86XD5 332 35769 4.34 0 Cytosol;Nucleoplasm NA PE1 7 +NX_Q86XD8 727 80358 8.66 0 Golgi apparatus NA PE2 10 +NX_Q86XE0 403 46399 6.63 0 Cell junction;Focal adhesion NA PE1 11 +NX_Q86XE3 530 60711 8.35 1 Mitochondrion;Membrane NA PE1 8 +NX_Q86XE5 327 35249 8.13 0 Mitochondrion Hyperoxaluria primary 3 PE1 10 +NX_Q86XF0 187 21620 7.75 0 Mitochondrion matrix;Mitochondrion inner membrane;Mitochondrion NA PE1 3 +NX_Q86XF7 245 26763 9.83 0 Nucleolus;Nucleus;Cytosol;Nucleus NA PE1 19 +NX_Q86XG9 351 40546 4.95 0 Cytoplasm NA PE5 1 +NX_Q86XH1 822 95341 9.48 0 Nucleus NA PE1 2 +NX_Q86XI2 1143 130960 6.43 0 Nucleus speckle;Nucleus NA PE1 7 +NX_Q86XI6 285 32695 5.86 0 Cytosol NA PE1 8 +NX_Q86XI8 627 70073 8.92 0 Nucleus NA PE1 19 +NX_Q86XJ0 350 39087 8.9 4 Membrane;Nucleoplasm NA PE2 10 +NX_Q86XJ1 694 75214 9.67 0 Cytoskeleton;Cytoplasm NA PE1 12 +NX_Q86XK2 927 103585 6.53 0 Nucleus;Nucleus;Chromosome NA PE1 2 +NX_Q86XK3 245 28262 6.06 0 Nucleus NA PE1 10 +NX_Q86XK7 387 41811 4.59 1 Cytoplasmic vesicle;Cytosol;Membrane NA PE1 X +NX_Q86XL3 938 104114 6.66 1 Endoplasmic reticulum;Cell membrane;Endoplasmic reticulum membrane Microcephaly 16, primary, autosomal recessive PE1 12 +NX_Q86XM0 798 90468 7.04 1 Flagellum membrane NA PE1 19 +NX_Q86XN6 746 87719 9.23 0 Nucleus NA PE1 19 +NX_Q86XN7 944 95698 9.06 0 Cytosol;Nucleus NA PE1 13 +NX_Q86XN8 651 64883 5.19 0 Nucleus;Cytoplasm NA PE1 19 +NX_Q86XP0 818 91952 5.33 0 Membrane;Cytosol NA PE1 15 +NX_Q86XP1 1220 134866 6.11 0 Cell membrane;Cytoplasm NA PE1 13 +NX_Q86XP3 938 102975 6.54 0 Nucleus speckle;Cytoplasm;Nucleus speckle;Cajal body NA PE1 17 +NX_Q86XP6 184 20487 7.03 0 Secreted NA PE1 2 +NX_Q86XQ3 398 46422 5.88 6 Flagellum membrane NA PE1 5 +NX_Q86XR2 697 77413 8.99 0 NA NA PE1 19 +NX_Q86XR5 153 16689 8.83 1 Cell membrane;Cytosol;Nucleolus;Cell junction;Cell membrane;Synapse NA PE1 14 +NX_Q86XR7 235 26916 4.99 0 Early endosome membrane;Late endosome membrane;Cytoplasm;Golgi apparatus;Cell membrane;Endoplasmic reticulum NA PE1 5 +NX_Q86XR8 500 57089 9.35 0 Nucleus;Cytoplasm;Centrosome;Cytosol;Cytoskeleton Mosaic variegated aneuploidy syndrome 2 PE1 11 +NX_Q86XS5 388 44144 6.14 0 Secreted NA PE1 11 +NX_Q86XS8 419 46405 9.12 1 Membrane;Cytoplasm NA PE1 5 +NX_Q86XT2 251 27730 9.2 0 Cytoplasmic vesicle;Late endosome membrane NA PE1 7 +NX_Q86XT4 487 54774 7.28 0 Cytoplasm NA PE1 7 +NX_Q86XT9 240 25724 8.81 1 Cell membrane NA PE1 16 +NX_Q86XU0 584 67996 9.3 0 Centrosome;Nucleus;Nucleus NA PE1 19 +NX_Q86XW9 330 36856 4.82 0 Cytoskeleton;Cytoplasm NA PE1 3 +NX_Q86XX4 4008 443214 5.32 1 Nucleolus;Cell membrane Fraser syndrome PE1 4 +NX_Q86XZ4 545 59545 9.01 0 Cytoplasm;Cytosol;Cytoplasm NA PE1 12 +NX_Q86Y01 620 67368 9.67 0 Nucleus;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA PE1 12 +NX_Q86Y07 508 58141 8.97 1 Nucleus;Cytoplasm;Mitochondrion membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 2 +NX_Q86Y13 1208 138604 6.45 0 Cytoplasm;Cytoplasmic vesicle NA PE1 3 +NX_Q86Y22 540 51944 6.88 1 Cell membrane NA PE1 5 +NX_Q86Y25 554 64847 8.36 0 Nucleus membrane;Nucleus;Cytosol NA PE1 5 +NX_Q86Y26 1132 120314 5.32 0 Cytoplasm;Nucleus NA PE1 15 +NX_Q86Y27 43 4711 4.58 0 Secreted NA PE2 13 +NX_Q86Y28 39 4230 4.25 0 Secreted NA PE2 21 +NX_Q86Y29 109 12112 8.59 0 Secreted NA PE2 21 +NX_Q86Y30 109 12114 9.02 0 Secreted NA PE2 21 +NX_Q86Y33 519 57335 8.76 0 NA NA PE1 5 +NX_Q86Y34 549 60861 9.01 7 Cell membrane NA PE1 16 +NX_Q86Y37 369 41064 5.08 0 Nucleoplasm NA PE1 10 +NX_Q86Y38 959 107569 9.32 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum;Secreted Desbuquois dysplasia 2;Pseudoxanthoma elasticum PE1 16 +NX_Q86Y39 141 14852 8.95 2 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency PE1 19 +NX_Q86Y46 540 58923 6.93 0 NA NA PE1 12 +NX_Q86Y56 855 93521 5.98 0 Cytosol;Nucleoplasm;Cytoplasm;Cytoplasmic granule Ciliary dyskinesia, primary, 18 PE1 7 +NX_Q86Y78 171 19118 5.69 0 Cytosol;Secreted;Cytoplasm;Cell membrane;Synaptosome;Membrane raft NA PE1 2 +NX_Q86Y79 214 22937 10.59 0 NA NA PE1 9 +NX_Q86Y82 276 31642 5.45 1 Recycling endosome membrane;Early endosome membrane;Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus;Endomembrane system;Endosome membrane;Golgi apparatus membrane NA PE1 1 +NX_Q86Y91 864 94223 9.01 0 Cytoskeleton;Cytosol;Cytoskeleton;Nucleus;Nucleus;Cytoplasm NA PE1 17 +NX_Q86Y97 462 52113 9.9 0 Nucleus;Chromosome;Nucleoplasm NA PE1 19 +NX_Q86YA3 2104 236602 5.81 1 Cytosol;Membrane NA PE1 4 +NX_Q86YB7 292 31126 9.03 0 Mitochondrion;Mitochondrion NA PE1 1 +NX_Q86YB8 467 53543 8.25 0 Endoplasmic reticulum membrane NA PE1 1 +NX_Q86YC2 1186 131295 6.03 0 Nucleoplasm;Nucleus Pancreatic cancer 3;Fanconi anemia complementation group N;Breast cancer PE1 16 +NX_Q86YC3 692 76366 5.75 1 Cell membrane;Endoplasmic reticulum membrane NA PE1 3 +NX_Q86YD1 416 46869 10.54 0 Nucleus;Perinuclear region;Nucleus;Cell membrane NA PE1 19 +NX_Q86YD3 366 39285 7.06 1 Secreted;Cell membrane;Cytoplasmic vesicle;Golgi apparatus NA PE1 11 +NX_Q86YD5 345 37419 4.74 1 Cell membrane;Cell junction NA PE1 11 +NX_Q86YD7 464 49793 9.71 0 NA NA PE1 12 +NX_Q86YE8 665 78181 9.32 0 Cytosol;Cytoskeleton;Nucleus NA PE1 19 +NX_Q86YF9 867 98664 5.8 0 Nucleoplasm;Cytosol;Microtubule organizing center;Nucleus;Cytoplasm;Cilium basal body;Centriole NA PE1 13 +NX_Q86YG4 428 48951 5.68 0 NA NA PE1 2 +NX_Q86YH2 543 61584 7.62 0 Nucleus;Nucleoplasm NA PE1 22 +NX_Q86YH6 399 44129 8.43 0 Mitochondrion;Cytosol Coenzyme Q10 deficiency, primary, 3 PE1 6 +NX_Q86YI8 300 33582 7.89 0 Nucleus;Nucleoplasm NA PE1 1 +NX_Q86YJ5 346 37772 9.36 2 Golgi apparatus membrane;Lysosome membrane NA PE1 12 +NX_Q86YJ6 484 54116 6.07 0 Secreted NA PE1 2 +NX_Q86YJ7 626 70205 6.47 0 Cell membrane;Early endosome;Late endosome;Cytoplasmic vesicle NA PE1 17 +NX_Q86YL5 185 20403 5.76 0 Cytosol;Cytoplasmic vesicle;Nucleus;Cytoplasm NA PE1 8 +NX_Q86YL7 162 16698 4.37 1 Ruffle membrane;Cytoplasmic vesicle;Membrane;Lamellipodium membrane;Filopodium membrane;Membrane raft;Apical cell membrane;Basolateral cell membrane;Microvillus membrane;Invadopodium;Cytosol NA PE1 1 +NX_Q86YM7 354 40277 5.33 0 Cytosol;Cytoplasm;Postsynaptic density;Synapse NA PE1 5 +NX_Q86YN1 238 27031 9.48 4 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cytoskeleton NA PE1 9 +NX_Q86YN6 1023 113222 4.94 0 Nucleus;Nucleus NA PE1 5 +NX_Q86YP4 633 68063 9.95 0 Nucleoplasm;Nucleus speckle NA PE1 19 +NX_Q86YQ2 179 19456 5.33 0 Secreted NA PE5 20 +NX_Q86YQ8 564 63108 5.66 0 NA NA PE1 12 +NX_Q86YR5 675 74510 6.1 0 Golgi apparatus;Cell membrane;Nucleoplasm;Cytosol;Golgi apparatus membrane;Endoplasmic reticulum membrane NA PE1 9 +NX_Q86YR6 584 66394 6.32 0 Cell membrane NA PE2 21 +NX_Q86YR7 1114 126993 6 0 Cell membrane;Cytosol Diabetes mellitus, non-insulin-dependent PE1 3 +NX_Q86YS3 637 71928 4.78 0 Cytoplasmic vesicle;Midbody;Cleavage furrow;Recycling endosome membrane;Centrosome;Spindle;Endosome;Cytoplasmic vesicle NA PE1 17 +NX_Q86YS6 212 23339 5.44 0 Cell membrane;Golgi apparatus;trans-Golgi network membrane;trans-Golgi network;Phagosome;Phagosome membrane NA PE1 3 +NX_Q86YS7 1000 110447 5.47 0 Cytoplasmic vesicle membrane;Cytosol;Cell membrane;Ruffle;Microtubule organizing center;Cell cortex NA PE1 12 +NX_Q86YT5 568 63062 8.52 12 Nucleoplasm;Cell membrane;Membrane Epileptic encephalopathy, early infantile, 25 PE1 17 +NX_Q86YT6 1006 110136 6.47 0 Centriolar satellite;Cell membrane;Cytoplasm;Nucleus membrane;Cytoplasmic vesicle;Cell membrane Left ventricular non-compaction 7 PE1 18 +NX_Q86YT9 394 44339 6.68 1 Cell membrane;Cell junction NA PE1 11 +NX_Q86YV0 1011 111898 9.03 0 Cytoplasm;Cell cortex NA PE1 19 +NX_Q86YV5 1406 149624 6.83 0 Nucleoplasm;Centrosome;Cytosol NA PE1 8 +NX_Q86YV6 388 44508 5.89 0 NA NA PE1 6 +NX_Q86YV9 775 82975 5.92 0 Lysosome membrane;Microsome membrane;Early endosome membrane;Cytosol Hermansky-Pudlak syndrome 6 PE1 10 +NX_Q86YW0 608 70411 9.14 0 Nucleus;Perinuclear region Spermatogenic failure 17 PE1 12 +NX_Q86YW5 311 32679 5.7 1 Cytoplasm;Cell membrane NA PE1 6 +NX_Q86YW7 130 14232 8 0 Secreted NA PE1 14 +NX_Q86YW9 2145 240120 7.97 0 Nucleolus;Nucleus NA PE1 3 +NX_Q86YZ3 2850 282390 10.05 0 Mitochondrion;Cytoplasmic granule NA PE1 1 +NX_Q86Z02 1210 130843 8.48 0 Nucleus;Cytosol;Nucleoplasm;Centrosome;Cytoplasm NA PE1 1 +NX_Q86Z14 1044 119808 9.28 1 Cell membrane NA PE1 4 +NX_Q86Z20 511 58629 6.86 0 Nucleus membrane;Cytoplasm;Cytoskeleton;Nucleoplasm NA PE1 5 +NX_Q86Z23 238 24909 8.41 0 Secreted NA PE1 12 +NX_Q8HWS3 928 102461 6.11 0 Nucleus;Nucleolus;Nucleus Mitchell-Riley syndrome PE1 6 +NX_Q8IU53 76 8607 10.35 0 NA NA PE4 10 +NX_Q8IU54 200 21898 9.08 0 Secreted NA PE1 19 +NX_Q8IU57 520 57653 4.89 1 Cytosol;Membrane NA PE1 1 +NX_Q8IU60 420 48457 8.21 0 Cytosol;Cell junction;Nucleoplasm;P-body;Nucleus NA PE1 5 +NX_Q8IU68 726 81641 9.49 8 Golgi apparatus;Endoplasmic reticulum membrane Epidermodysplasia verruciformis PE1 17 +NX_Q8IU80 811 90000 6.25 1 Cell membrane Iron-refractory iron deficiency anemia PE1 22 +NX_Q8IU81 584 61688 8.52 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q8IU85 385 42914 6.77 0 Nucleus;Nucleus;Cytosol;Cytoplasm NA PE1 10 +NX_Q8IU89 383 46316 7.63 6 Nucleus membrane Ichthyosis, congenital, autosomal recessive 9 PE1 15 +NX_Q8IU99 346 38264 8.53 4 Cell membrane;Endoplasmic reticulum membrane NA PE1 10 +NX_Q8IUA0 241 27824 8.43 0 Secreted NA PE1 20 +NX_Q8IUA7 1624 184362 6.49 14 Membrane NA PE1 17 +NX_Q8IUB2 231 24687 7.58 0 Secreted NA PE2 20 +NX_Q8IUB3 73 8325 8.82 0 Secreted NA PE2 20 +NX_Q8IUB5 93 10386 8.41 0 Secreted NA PE2 20 +NX_Q8IUB9 90 9008 8.45 0 NA NA PE1 21 +NX_Q8IUC0 172 18320 8.54 0 NA NA PE1 21 +NX_Q8IUC1 163 17085 8.32 0 NA NA PE1 21 +NX_Q8IUC2 63 6826 7.6 0 NA NA PE1 21 +NX_Q8IUC3 87 9288 8.57 0 NA NA PE1 21 +NX_Q8IUC4 686 76993 6.35 0 Perinuclear region NA PE1 19 +NX_Q8IUC6 712 76422 5.24 0 Cell membrane;Autophagosome;Nucleus;Nucleolus Herpes simplex encephalitis 4 PE1 19 +NX_Q8IUC8 556 64051 6.41 1 Golgi apparatus membrane NA PE1 2 +NX_Q8IUD2 1116 128086 5.72 0 Cytoplasm;Cytosol;Cell membrane;Cytoplasmic vesicle;Membrane;Golgi apparatus membrane NA PE1 12 +NX_Q8IUD6 432 47888 6.37 0 Cytoplasm;Cytoplasmic vesicle Macrocephaly, macrosomia, facial dysmorphism syndrome PE1 17 +NX_Q8IUE0 185 20814 9.84 0 Nucleus NA PE1 Y +NX_Q8IUE1 241 26675 9.13 0 Nucleoplasm;Nucleus NA PE1 X +NX_Q8IUE6 130 13995 10.88 0 Nucleus;Nucleus;Chromosome NA PE1 1 +NX_Q8IUF1 395 44034 4.79 0 NA NA PE1 2 +NX_Q8IUF8 465 52800 6.23 0 Nucleolus;Nucleolus;Nucleus;Nucleus NA PE1 3 +NX_Q8IUG1 177 18184 5.53 0 NA NA PE2 17 +NX_Q8IUG5 2567 285185 6.49 0 Cytoplasm;Centrosome;Nucleoplasm;Sarcomere;Nucleus Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism PE1 22 +NX_Q8IUH2 290 32109 9.18 0 Secreted NA PE1 2 +NX_Q8IUH3 476 53502 6.74 0 Nucleus;Cytoplasm;Nucleus NA PE1 2 +NX_Q8IUH4 622 70861 8.39 6 Cytoplasmic vesicle membrane;Golgi apparatus membrane;Cytoplasmic vesicle NA PE1 11 +NX_Q8IUH5 632 72640 7.29 6 Golgi apparatus membrane;Cytoplasmic vesicle;Cytosol;Cytoplasmic vesicle membrane;Presynaptic cell membrane;Golgi apparatus NA PE1 12 +NX_Q8IUH8 684 74503 6.28 9 Endoplasmic reticulum membrane;Membrane NA PE1 17 +NX_Q8IUI4 249 27226 4.8 0 NA NA PE5 16 +NX_Q8IUI8 442 49766 5.01 0 Cytosol;Cell membrane;Cytoplasm NA PE1 17 +NX_Q8IUK5 500 55760 5.49 1 Secreted;Cytoplasm;Tight junction;Cell membrane NA PE1 17 +NX_Q8IUK8 224 24084 8.8 0 Secreted NA PE1 18 +NX_Q8IUL8 1156 126291 8.63 0 Extracellular matrix NA PE1 19 +NX_Q8IUM7 802 87117 4.53 0 Nucleus NA PE1 11 +NX_Q8IUN9 316 35446 5.66 1 Membrane NA PE1 17 +NX_Q8IUQ0 354 40788 6.68 0 trans-Golgi network membrane;Early endosome membrane;Clathrin-coated vesicle NA PE1 8 +NX_Q8IUQ4 282 31123 6.35 0 Mitochondrion;Nucleoplasm;Nucleus;Cytoplasm NA PE1 16 +NX_Q8IUR0 188 20783 9.69 0 cis-Golgi network;Endoplasmic reticulum;Cytoplasmic vesicle NA PE1 19 +NX_Q8IUR5 882 98847 9.05 9 Cytosol;Nucleoplasm;Membrane NA PE1 12 +NX_Q8IUR6 639 72149 4.76 0 Nucleus;Nucleus NA PE1 5 +NX_Q8IUR7 673 75509 6.28 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol NA PE1 3 +NX_Q8IUS5 362 42324 8.64 1 Cytoplasmic vesicle;Membrane NA PE1 1 +NX_Q8IUW3 424 46179 5.35 0 Nucleoplasm;Cytosol;Mitochondrion NA PE1 16 +NX_Q8IUW5 271 29340 8.57 1 Cell membrane;Cell membrane;Cytoskeleton NA PE1 4 +NX_Q8IUX1 230 25943 8.96 4 Mitochondrion membrane;Mitochondrion NA PE1 11 +NX_Q8IUX4 373 45020 6.85 0 Cytoplasm;P-body NA PE1 22 +NX_Q8IUX7 1158 130929 5.05 0 Cytoplasmic vesicle;Nucleus;Nucleoplasm;Cytosol;Cytoplasm;Secreted NA PE1 7 +NX_Q8IUX8 553 61317 8.45 0 Basement membrane NA PE2 X +NX_Q8IUY3 354 40249 8.73 1 Membrane;Cytosol;Nucleus speckle;Nucleolus NA PE1 15 +NX_Q8IUZ0 686 78894 7.94 0 Cytoskeleton NA PE1 15 +NX_Q8IUZ5 450 49711 6.28 0 Mitochondrion;Mitochondrion Phosphohydroxylysinuria PE1 5 +NX_Q8IV01 421 46537 5.37 1 Synaptic vesicle membrane NA PE1 11 +NX_Q8IV03 231 24583 4.98 0 Nucleolus;Nucleus NA PE1 9 +NX_Q8IV04 446 49712 9.03 0 Nucleus NA PE1 11 +NX_Q8IV08 490 54705 6.02 1 Endoplasmic reticulum membrane NA PE1 19 +NX_Q8IV13 435 48406 7.28 0 Nucleus speckle NA PE2 5 +NX_Q8IV16 184 19806 4.71 0 Basolateral cell membrane;Cell membrane;Apical cell membrane Hyperlipoproteinemia 1D PE1 8 +NX_Q8IV20 430 47780 6.64 0 Nucleoplasm;Peroxisome;Cytoskeleton;Cytosol Rheumatoid arthritis systemic juvenile PE1 13 +NX_Q8IV31 216 23729 4.7 1 Focal adhesion;Membrane;Cell membrane NA PE1 7 +NX_Q8IV32 467 49648 11.8 0 Nucleus membrane NA PE1 3 +NX_Q8IV33 1275 147763 6.18 0 NA NA PE1 5 +NX_Q8IV35 697 79295 8.76 0 NA NA PE2 3 +NX_Q8IV36 788 88745 5.69 0 Cytosol;Cytoplasm;Golgi apparatus membrane;Golgi apparatus NA PE1 17 +NX_Q8IV38 441 49299 5.88 0 Nucleus;Cytoplasm;Cytosol;Nucleoplasm;Cilium NA PE1 7 +NX_Q8IV42 348 39527 8.62 0 Nucleolus;Cytoskeleton;Nucleus NA PE1 10 +NX_Q8IV45 518 57818 6.21 1 Membrane;Centrosome;Cytoplasm NA PE1 6 +NX_Q8IV48 349 40064 6.29 0 Cytoskeleton;Cytoplasmic vesicle;Nucleolus;Nucleus;Cytoplasm NA PE1 8 +NX_Q8IV50 215 23463 5.27 0 Nucleus;Mitochondrion NA PE1 15 +NX_Q8IV53 801 87065 5.46 0 Cytosol;Clathrin-coated vesicle NA PE1 19 +NX_Q8IV56 129 13715 9.64 0 Cell junction;Cytoplasmic vesicle NA PE1 7 +NX_Q8IV61 690 78332 6.33 0 Golgi apparatus;Nucleoplasm NA PE1 2 +NX_Q8IV63 474 52881 9.21 0 Nucleus;Nucleus;Cytoplasmic vesicle NA PE1 19 +NX_Q8IV76 773 87428 4.96 0 Nucleus;Nucleus;Nucleus speckle NA PE1 X +NX_Q8IV77 575 65999 5.4 6 Membrane NA PE1 11 +NX_Q8IVA1 136 14547 4.67 0 Cytoplasmic vesicle;Nucleus speckle NA PE1 19 +NX_Q8IVB4 645 72565 5.8 13 Late endosome membrane Autism 16 PE1 3 +NX_Q8IVB5 337 36563 8.8 0 Cytosol NA PE1 1 +NX_Q8IVC4 421 48272 9.05 0 Nucleus speckle;Nucleus NA PE1 19 +NX_Q8IVD9 361 40822 5.16 0 Cell membrane;Cytosol;Nucleus NA PE1 7 +NX_Q8IVE0 287 33334 10.84 0 NA NA PE5 1 +NX_Q8IVE3 1493 168229 7.5 0 Cytoplasm;Cytoplasm;Cell membrane;Cytoskeleton;Cell membrane;Lamellipodium NA PE1 2 +NX_Q8IVF1 878 93890 8.6 0 NA NA PE2 10 +NX_Q8IVF2 5795 616629 5.2 0 Cytosol;Cell membrane;Nucleus NA PE1 14 +NX_Q8IVF4 4471 514841 5.64 0 Cilium axoneme NA PE1 12 +NX_Q8IVF5 1701 190103 6.8 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleolus;Growth cone;Filopodium;Lamellipodium NA PE1 6 +NX_Q8IVF6 992 115597 7.92 0 NA NA PE2 9 +NX_Q8IVF7 1028 117213 6.23 0 Cytosol;Cytoplasm;Cell membrane;Golgi apparatus;Cytoplasmic vesicle;Cell membrane NA PE1 12 +NX_Q8IVG5 1584 184533 8.25 0 Cytosol;Early endosome Ataxia-pancytopenia syndrome PE1 7 +NX_Q8IVG9 24 2687 9.49 0 Secreted;Cytoplasm NA PE1 MT +NX_Q8IVH2 680 73488 5.97 0 Cytosol;Nucleoplasm;Nucleus NA PE1 6 +NX_Q8IVH4 418 46538 9.37 0 Cytosol;Mitochondrion Methylmalonic aciduria type cblA PE1 4 +NX_Q8IVH8 894 101316 7.38 0 Centrosome NA PE1 2 +NX_Q8IVI9 506 57660 9.08 0 Cell membrane;Cytoplasmic vesicle;Cytoskeleton;Nucleus NA PE1 2 +NX_Q8IVJ1 513 54901 5.12 10 Cell membrane;Mitochondrion NA PE1 1 +NX_Q8IVJ8 170 18525 10.7 1 Membrane NA PE2 3 +NX_Q8IVK1 47 5018 9.3 0 NA NA PE5 12 +NX_Q8IVL0 2385 255648 8.92 0 Cytosol;Nucleus membrane;Nucleus outer membrane NA PE1 12 +NX_Q8IVL1 2488 268167 9.13 0 Nucleus;Nucleoplasm NA PE1 11 +NX_Q8IVL5 708 80984 5.48 0 Endoplasmic reticulum;Sarcoplasmic reticulum;Golgi apparatus Myopia, high, with cataract and vitreoretinal degeneration PE1 3 +NX_Q8IVL6 736 81837 5.93 0 Endoplasmic reticulum NA PE1 12 +NX_Q8IVL8 374 42529 6.6 0 Apical cell membrane NA PE1 2 +NX_Q8IVM0 306 35822 6.2 0 Cytoplasm;Cytosol;Cytoplasm Deafness, autosomal dominant, 44 PE1 3 +NX_Q8IVM7 164 18094 9.29 0 NA NA PE5 13 +NX_Q8IVM8 553 62169 8.4 12 Basolateral cell membrane NA PE1 11 +NX_Q8IVN3 82 8911 9.87 0 Nucleus NA PE1 3 +NX_Q8IVN8 264 29610 7.71 0 Extracellular matrix NA PE1 8 +NX_Q8IVP5 155 17178 8.67 3 Mitochondrion outer membrane NA PE1 X +NX_Q8IVP9 402 45956 8.71 0 Nucleus NA PE1 19 +NX_Q8IVQ6 265 31385 8.81 4 Membrane;Golgi apparatus;Golgi apparatus;Cytosol NA PE1 9 +NX_Q8IVS2 390 42962 8.97 0 Mitochondrion;Mitochondrion NA PE1 22 +NX_Q8IVS8 523 55253 6.25 0 Golgi apparatus;Cytoplasm;Cytosol;Mitochondrion;Cytoplasm D-glyceric aciduria PE1 3 +NX_Q8IVT2 679 75357 6.36 0 Cell cortex;Cell membrane;Focal adhesion;Focal adhesion;Cytoskeleton NA PE1 19 +NX_Q8IVT5 923 102160 8.94 0 Cytoplasm;Membrane;Cell membrane;Ruffle membrane;Endoplasmic reticulum membrane NA PE1 17 +NX_Q8IVU1 814 86724 7.58 1 Membrane NA PE1 15 +NX_Q8IVU3 1022 115126 8.22 0 Cytosol;Nucleus;Cytosol NA PE1 4 +NX_Q8IVU9 208 23883 4.36 0 Centrosome;Nucleoplasm;Cytosol NA PE1 10 +NX_Q8IVV2 1947 221947 5.24 0 Stereocilium Deafness, autosomal recessive, 77 PE1 18 +NX_Q8IVV7 300 33514 9.26 0 Cytosol NA PE1 17 +NX_Q8IVV8 208 23240 5.43 3 Cell membrane NA PE2 20 +NX_Q8IVW1 177 19388 9.85 0 Golgi apparatus NA PE2 17 +NX_Q8IVW4 592 67514 9.35 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle NA PE1 5 +NX_Q8IVW6 561 60637 7.05 0 Nucleus;Nucleoplasm NA PE1 15 +NX_Q8IVW8 549 58044 9.43 11 Membrane NA PE1 17 +NX_Q8IVY1 113 12024 5.46 1 Membrane;Early endosome;Cell membrane;Recycling endosome;Nucleolus NA PE1 1 +NX_Q8IW00 320 36146 9.88 1 Cytoplasmic vesicle;Nucleus;Secreted;Cell membrane NA PE1 10 +NX_Q8IW03 269 30660 7.21 0 Mitochondrion NA PE2 13 +NX_Q8IW19 511 56956 4.98 0 Nucleus;Nucleoplasm;Cytosol NA PE1 2 +NX_Q8IW35 865 96981 4.92 0 Centrosome;Cytosol;Microtubule organizing center NA PE1 3 +NX_Q8IW36 515 60149 8.98 0 Nucleus;Nucleus speckle NA PE1 1 +NX_Q8IW40 242 27163 5.74 0 Cytosol;Flagellum;Cytoplasm Ciliary dyskinesia, primary, 17 PE1 17 +NX_Q8IW41 473 54220 7.66 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 12 +NX_Q8IW45 347 36576 8.21 0 Mitochondrion NA PE1 13 +NX_Q8IW50 185 20400 4.53 0 Nucleoplasm;Golgi apparatus;Cytoplasmic vesicle NA PE1 9 +NX_Q8IW52 837 94331 7.95 1 Membrane;Cell membrane;Cytoskeleton NA PE1 X +NX_Q8IW70 566 61506 6.72 2 Membrane NA PE1 6 +NX_Q8IW75 414 47175 9.31 0 Secreted NA PE1 14 +NX_Q8IW92 636 72079 7.2 0 Secreted;Nucleus NA PE1 11 +NX_Q8IW93 802 89197 7.31 0 Nucleus NA PE1 1 +NX_Q8IWA0 830 94499 5.65 0 Nucleoplasm;Nucleolus NA PE1 2 +NX_Q8IWA4 741 84100 5.87 2 Mitochondrion;Mitochondrion outer membrane;Cytoplasm NA PE1 3 +NX_Q8IWA5 706 80124 8.89 10 Cytoplasmic vesicle;Cell junction;Membrane NA PE1 19 +NX_Q8IWA6 550 63091 9.71 0 NA NA PE1 12 +NX_Q8IWB1 547 62060 5.58 0 Cell membrane;Cytoplasmic vesicle NA PE1 10 +NX_Q8IWB4 1347 148734 8.96 1 Membrane NA PE2 9 +NX_Q8IWB6 1497 167901 5.04 0 Cell junction;Cytosol;Cytoplasm;Midbody;Cell membrane;Cytoplasmic vesicle;Kinetochore NA PE1 17 +NX_Q8IWB7 410 46324 6.99 0 Early endosome NA PE1 2 +NX_Q8IWB9 1127 125303 5.71 2 Nucleus;Membrane NA PE1 17 +NX_Q8IWC1 876 98429 9.34 0 Spindle;Centrosome NA PE1 X +NX_Q8IWD4 279 30541 4.99 0 Nucleus;Cytoskeleton;Cytosol NA PE1 22 +NX_Q8IWD5 586 64005 8.87 11 Endoplasmic reticulum;Membrane NA PE2 17 +NX_Q8IWE2 563 60742 4.61 0 Nucleus;Cytoplasm;Golgi apparatus;Cytosol NA PE1 4 +NX_Q8IWE4 304 34291 5.05 0 Nucleoplasm;Cytosol;Cell membrane NA PE1 16 +NX_Q8IWE5 1019 112780 4.82 0 Cytoplasm NA PE1 1 +NX_Q8IWF2 684 77791 7.39 0 Endoplasmic reticulum lumen NA PE1 22 +NX_Q8IWF6 608 69575 8.52 0 Recycling endosome;Cytoplasmic vesicle;Cytoplasm NA PE1 3 +NX_Q8IWF7 75 8761 8.85 0 NA NA PE5 X +NX_Q8IWF9 413 48851 5.33 0 Nucleus;Cell membrane;Cytosol NA PE1 11 +NX_Q8IWG1 891 102935 5.52 0 NA NA PE1 1 +NX_Q8IWI9 3026 331836 6.35 0 Cytosol;Nucleus;Nucleoplasm NA PE1 15 +NX_Q8IWJ2 1684 195910 5.1 0 Golgi apparatus;trans-Golgi network membrane;Cytoplasm;Nucleoplasm NA PE1 2 +NX_Q8IWK6 1321 146151 8.8 7 Membrane NA PE1 4 +NX_Q8IWL1 248 26182 5.07 0 Extracellular matrix;Surface film Pulmonary fibrosis, idiopathic PE1 10 +NX_Q8IWL2 248 26242 4.89 0 Extracellular matrix;Surface film Respiratory distress syndrome in premature infants;Pulmonary fibrosis, idiopathic PE1 10 +NX_Q8IWL3 235 27422 7.59 0 Cytoplasm;Cytosol;Nucleus;Mitochondrion;Mitochondrion NA PE1 22 +NX_Q8IWL8 128 13652 4.72 0 Cytoplasm;Nucleus NA PE1 17 +NX_Q8IWN6 122 13808 9.87 0 NA NA PE2 X +NX_Q8IWN7 2480 261207 4.38 0 Photoreceptor outer segment;Cilium axoneme Occult macular dystrophy PE1 8 +NX_Q8IWP9 274 30367 9.32 0 Cytosol NA PE1 6 +NX_Q8IWQ3 736 81633 8.97 0 Centrosome;Perinuclear region;Endoplasmic reticulum;Golgi apparatus NA PE1 11 +NX_Q8IWR0 971 110538 7 0 Cytosol;Nucleus NA PE1 16 +NX_Q8IWR1 403 47114 6.36 1 Endoplasmic reticulum membrane NA PE1 3 +NX_Q8IWS0 365 41290 8.97 0 Nucleolus;Nucleus;Nucleolus;Nucleus;Kinetochore Boerjeson-Forssman-Lehmann syndrome PE1 X +NX_Q8IWT0 167 19491 4.39 0 Cell membrane NA PE1 1 +NX_Q8IWT1 228 24969 6.9 1 Cell membrane Atrial fibrillation, familial, 17;Long QT syndrome 10 PE1 11 +NX_Q8IWT3 2517 281229 5.3 0 Cytosol;Cytoplasm NA PE1 6 +NX_Q8IWT6 810 94199 8.15 4 Cell membrane Agammaglobulinemia 5, autosomal dominant PE1 9 +NX_Q8IWU2 1503 164900 4.35 2 Nucleus speckle;Membrane;Microtubule organizing center;Cytosol;Cell membrane NA PE1 7 +NX_Q8IWU4 369 40755 6.11 6 Endoplasmic reticulum;Cell membrane;Secretory vesicle membrane NA PE1 8 +NX_Q8IWU5 870 100455 9.3 0 Cell surface;Endoplasmic reticulum;Golgi stack NA PE1 20 +NX_Q8IWU6 871 101027 9.23 0 Endoplasmic reticulum;Golgi stack;Cell surface NA PE1 8 +NX_Q8IWU9 490 56057 6.03 0 NA Attention deficit-hyperactivity disorder 7;Major depressive disorder PE1 12 +NX_Q8IWV1 398 44085 4.85 1 Cell membrane;Golgi apparatus;Cell membrane;Cytosol NA PE1 1 +NX_Q8IWV2 1026 113454 7.24 0 Cell membrane;Secreted NA PE1 3 +NX_Q8IWV7 1749 200211 5.67 0 Cytoplasmic vesicle;Nucleoplasm;Cytosol Johanson-Blizzard syndrome PE1 15 +NX_Q8IWV8 1755 200538 5.84 0 Nucleus;Nucleoplasm;Cell membrane NA PE1 6 +NX_Q8IWW6 846 96254 7.29 0 NA NA PE1 10 +NX_Q8IWW8 467 50308 7.65 0 Mitochondrion;Cytoplasmic vesicle NA PE1 8 +NX_Q8IWX5 399 44741 9.17 9 Endoplasmic reticulum membrane NA PE2 2 +NX_Q8IWX7 931 103733 8.03 0 Cytosol;Cytosol Cataract 43 PE1 17 +NX_Q8IWX8 916 103702 9.15 0 Cytoplasm;Perinuclear region;Endoplasmic reticulum NA PE1 19 +NX_Q8IWY4 988 107910 6.42 0 Cell membrane;Secreted NA PE1 22 +NX_Q8IWY8 852 96719 6.55 0 Cytoskeleton;Nucleus;Nucleoplasm;Cell membrane NA PE1 15 +NX_Q8IWY9 1227 134120 6.35 2 Cytosol;Cell membrane;Membrane;Nucleus;Cytoplasm Anemia, congenital dyserythropoietic, 1A PE1 15 +NX_Q8IWZ3 2542 269458 5.46 0 Cytoplasm NA PE1 5 +NX_Q8IWZ4 208 24498 8.69 0 NA NA PE2 11 +NX_Q8IWZ5 723 82745 8.3 0 Nucleoplasm;Mitochondrion NA PE1 3 +NX_Q8IWZ6 715 80353 5.7 0 Cilium basal body;Centriolar satellite;Cilium membrane;Cytoplasm Bardet-Biedl syndrome 7 PE1 4 +NX_Q8IWZ8 645 72471 7.2 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q8IX01 1082 120207 6.92 0 Nucleus;Nucleoplasm;Nucleus NA PE1 19 +NX_Q8IX03 1113 125301 5.65 0 Golgi apparatus;Ruffle membrane;Cytoplasm;Perinuclear region;Nucleus NA PE1 5 +NX_Q8IX04 471 52264 6.61 0 Nucleus;Cytosol NA PE1 11 +NX_Q8IX05 232 26183 4.45 1 Filopodium;Microvillus;Cell cortex;Membrane NA PE1 2 +NX_Q8IX06 675 73855 9.33 0 Cytoplasm;Nucleus NA PE5 8 +NX_Q8IX07 1006 104888 8.14 0 Cytosol;Nucleoplasm;Nucleus NA PE1 16 +NX_Q8IX12 1150 132821 5.57 0 Perinuclear region NA PE1 10 +NX_Q8IX15 550 61240 4.86 0 Nucleolus;Nucleus;Nucleus NA PE1 14 +NX_Q8IX18 779 88560 8.93 0 Nucleus NA PE1 17 +NX_Q8IX19 187 21229 9.03 1 Membrane NA PE1 19 +NX_Q8IX21 1173 131873 9.09 0 Cytoplasmic vesicle;Nucleus;Nucleus NA PE1 10 +NX_Q8IX29 292 34588 10.05 0 Cytosol;Cytoplasmic vesicle;Cell membrane;Nucleoplasm NA PE2 8 +NX_Q8IX30 993 109282 7.85 0 Secreted;Cell surface NA PE1 6 +NX_Q8IX90 412 46359 4.99 0 Spindle;Kinetochore;Cell membrane;Cytosol NA PE1 13 +NX_Q8IX94 777 87989 5.18 1 Membrane NA PE2 7 +NX_Q8IX95 158 18015 4.85 0 NA NA PE5 13 +NX_Q8IXA5 215 23431 8.27 1 Secreted;Acrosome membrane NA PE1 17 +NX_Q8IXB1 793 91080 6.78 0 Endoplasmic reticulum lumen NA PE1 2 +NX_Q8IXB3 177 19254 7.79 2 Membrane NA PE1 17 +NX_Q8IXE1 308 34696 7.99 7 Cell membrane NA PE3 14 +NX_Q8IXF0 933 100805 6.16 0 Nucleus;Nucleoplasm NA PE1 14 +NX_Q8IXF9 295 31475 8.49 6 Membrane NA PE2 2 +NX_Q8IXH6 220 23980 6.33 0 Cytosol;Nucleus;PML body;Autophagosome NA PE1 20 +NX_Q8IXH7 590 66247 4.98 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Nucleus;Cytosol NA PE1 20 +NX_Q8IXH8 852 95278 5.62 1 Cell membrane;Cell membrane;Cytoskeleton NA PE1 20 +NX_Q8IXI1 618 68118 5.55 1 Cytosol;Mitochondrion outer membrane NA PE1 16 +NX_Q8IXI2 618 70784 5.87 1 Mitochondrion outer membrane NA PE1 17 +NX_Q8IXJ6 389 43182 5.22 0 Cytosol;Nucleolus;Nucleus;Nucleus;Perinuclear region;Cytoplasm;Cytoskeleton;Centrosome;Centriole;Myelin membrane;Spindle;Midbody;Chromosome;Perikaryon;Cell projection;Growth cone NA PE1 19 +NX_Q8IXJ9 1541 165448 5.85 0 Nucleus;Nucleus;Nucleolus Bohring-Opitz syndrome;Myelodysplastic syndrome PE1 20 +NX_Q8IXK0 858 90713 8.93 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q8IXK2 581 66938 6.35 1 Golgi apparatus membrane Colorectal cancer 1 PE1 9 +NX_Q8IXL6 584 66234 7.65 0 Golgi apparatus;Cytosol;Nucleoplasm;Secreted;Golgi apparatus Raine syndrome PE1 7 +NX_Q8IXL7 192 20702 7.01 0 Endoplasmic reticulum;Mitochondrion Deafness, autosomal recessive, 74 PE1 12 +NX_Q8IXL9 164 19627 10.57 0 NA NA PE1 3 +NX_Q8IXM2 172 17900 6.74 0 Cytosol;Nucleoplasm;Nucleus NA PE1 17 +NX_Q8IXM3 137 15383 9.59 0 Mitochondrion;Mitochondrion NA PE1 9 +NX_Q8IXM6 262 29379 8.82 6 Nucleus membrane;Nucleus inner membrane NA PE1 6 +NX_Q8IXM7 274 31065 9.6 0 NA NA PE1 15 +NX_Q8IXN7 391 42864 6.22 0 Nucleolus;Cytoplasm NA PE1 1 +NX_Q8IXP5 236 25393 4.7 0 NA NA PE2 11 +NX_Q8IXQ3 194 21063 4.89 0 Cytoplasm;Centrosome;Nucleoplasm;Cytosol NA PE1 9 +NX_Q8IXQ4 340 38142 5.25 0 Nucleolus;Nucleus NA PE1 13 +NX_Q8IXQ5 586 65992 6.08 0 Nucleus;Cytosol;Cytoplasm;Nucleoplasm;Nucleus Cold-induced sweating syndrome 3;Retinitis pigmentosa 42 PE1 7 +NX_Q8IXQ6 854 96343 8.12 0 Nucleoplasm;Mitochondrion;Nucleus;Cytosol;Cytosol NA PE1 3 +NX_Q8IXQ8 264 29904 8.99 0 NA NA PE2 16 +NX_Q8IXQ9 262 29461 6.05 0 Cytoplasm;Mitochondrion matrix NA PE1 12 +NX_Q8IXR5 827 93514 5.98 0 Nucleus speckle;Golgi apparatus NA PE2 2 +NX_Q8IXR9 622 71046 9.33 0 NA NA PE2 12 +NX_Q8IXS0 508 57420 8.72 0 NA NA PE2 6 +NX_Q8IXS2 484 57297 6.96 0 Microtubule organizing center;Cytoplasmic vesicle Ciliary dyskinesia, primary, 27 PE1 12 +NX_Q8IXS6 379 42185 5.04 0 Cell membrane;Cell membrane NA PE1 9 +NX_Q8IXS8 530 58647 8.01 0 Nucleus;Cytosol;Cell membrane;Cell junction NA PE1 2 +NX_Q8IXT1 998 111616 6.8 0 Cytosol;Nucleus;Cytoplasm;Cell membrane NA PE1 11 +NX_Q8IXT2 367 39124 9.18 0 Nucleus NA PE1 19 +NX_Q8IXT5 1001 118103 6.34 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q8IXU6 374 41212 5.86 10 Membrane;Mitochondrion NA PE1 11 +NX_Q8IXV7 354 37676 8.61 0 Cytoplasm;Cytosol;Midbody Lymphoma, Hodgkin, classic PE1 3 +NX_Q8IXW0 634 70379 9.12 0 Cytosol NA PE1 11 +NX_Q8IXW5 612 69509 7.86 0 Cytoplasm;Cytosol;Nucleolus;Nucleus NA PE1 1 +NX_Q8IXX5 376 42826 9.28 1 Membrane NA PE1 1 +NX_Q8IXY8 311 35228 6.55 0 Cytosol;Nucleus;Golgi apparatus NA PE1 6 +NX_Q8IXZ2 948 101941 10.95 0 Nucleus;Golgi apparatus;Nucleoplasm NA PE1 8 +NX_Q8IXZ3 490 48674 9.1 0 Nucleus;Nucleus NA PE1 7 +NX_Q8IY17 1366 149995 8.02 1 Endoplasmic reticulum membrane Laurence-Moon syndrome;Boucher-Neuhauser syndrome;Oliver-McFarlane syndrome;Spastic paraplegia 39, autosomal recessive PE1 19 +NX_Q8IY18 1101 128806 8.63 0 Nucleus;Chromosome;Nucleus speckle;PML body;Telomere NA PE1 9 +NX_Q8IY21 1712 197853 7.53 0 Cytosol;Cytoskeleton;Cytoplasm NA PE1 4 +NX_Q8IY22 773 86331 6.26 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 16 +NX_Q8IY26 295 32194 10.03 4 Cytoplasmic vesicle;Membrane;Nucleoplasm NA PE1 9 +NX_Q8IY31 132 15281 5.07 0 Golgi apparatus;Cytoskeleton;cis-Golgi network;Cilium basal body;Cilium;Centriole NA PE1 17 +NX_Q8IY33 904 97502 9.63 0 Tight junction;Recycling endosome;Cell projection;Cytoskeleton;Cytosol;Cell membrane NA PE1 7 +NX_Q8IY34 581 63560 9.27 12 Lysosome membrane;Cytoplasmic vesicle NA PE1 11 +NX_Q8IY37 1157 129545 8.36 0 Nucleus membrane NA PE1 12 +NX_Q8IY42 314 33742 4.36 0 Cell junction NA PE1 4 +NX_Q8IY45 258 28408 8.15 0 Centrosome NA PE1 12 +NX_Q8IY47 623 71331 5.42 0 Cytoplasm;Nucleus;Nucleolus NA PE1 7 +NX_Q8IY49 270 31264 8.97 7 Golgi apparatus membrane NA PE1 7 +NX_Q8IY50 421 46817 9.57 10 Cell membrane;Membrane;Golgi apparatus;Nucleolus NA PE1 1 +NX_Q8IY51 512 57468 6.05 0 Nucleoplasm;Cytosol;Nucleus NA PE1 4 +NX_Q8IY57 180 19901 9.74 0 Nucleus;Nucleoplasm;Nucleus NA PE1 12 +NX_Q8IY63 956 106574 6.62 0 Cytoskeleton;Cell junction;Cytosol;Tight junction NA PE1 11 +NX_Q8IY67 606 63877 8.79 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 19 +NX_Q8IY81 847 96558 8.53 0 Nucleolus;Nucleolus NA PE1 17 +NX_Q8IY82 874 103497 5.49 0 Flagellum;Cilium axoneme NA PE1 16 +NX_Q8IY84 436 49606 8.53 0 Cytosol NA PE1 5 +NX_Q8IY85 973 110129 6.15 0 NA NA PE2 17 +NX_Q8IY92 1834 200012 5.74 0 Cytosol;Nucleus;Nucleoplasm;Cell junction Fanconi anemia complementation group P PE1 16 +NX_Q8IY95 271 30922 8.13 4 Nucleoplasm;Endosome;Lysosome;Lysosome membrane;Late endosome NA PE1 4 +NX_Q8IYA2 1237 143112 5.51 0 NA NA PE5 17 +NX_Q8IYA6 745 83587 9.84 0 Spindle;Spindle pole;Cytosol Filippi syndrome PE1 2 +NX_Q8IYA7 352 39331 9.66 0 Nucleus speckle;Nucleoplasm;Nucleus NA PE1 10 +NX_Q8IYA8 594 66343 8.55 0 Nucleoplasm;Chromosome NA PE1 3 +NX_Q8IYB0 196 21182 9.8 0 NA NA PE5 11 +NX_Q8IYB1 491 55800 6.58 0 Cytosol NA PE1 3 +NX_Q8IYB3 904 102335 11.84 0 Nucleus;Nucleus speckle;Nucleus speckle;Nucleus matrix NA PE1 1 +NX_Q8IYB4 626 69697 5.18 0 Membrane;Cytoplasm NA PE1 3 +NX_Q8IYB5 467 50386 8.92 0 Cytosol;Cell membrane;Cell membrane;Golgi apparatus NA PE1 6 +NX_Q8IYB7 885 99279 5.74 0 Cytoplasm;P-body Perlman syndrome PE1 2 +NX_Q8IYB8 786 87991 8.21 0 Nucleus;Mitochondrion matrix;Mitochondrion nucleoid;Mitochondrion NA PE1 10 +NX_Q8IYB9 648 74290 9.3 0 Nucleus NA PE1 4 +NX_Q8IYD1 628 68883 5.31 0 Cytosol;Cytoplasm NA PE1 X +NX_Q8IYD2 350 38859 9.36 0 NA NA PE2 1 +NX_Q8IYD8 2048 232191 5.76 0 Nucleoplasm;Nucleus NA PE1 14 +NX_Q8IYD9 372 41811 8.43 0 Nucleoplasm;Secreted NA PE1 18 +NX_Q8IYE0 955 112806 8.59 0 Centriole;Golgi apparatus;Cytoplasmic vesicle NA PE1 7 +NX_Q8IYE1 715 80884 8.82 0 Centrosome;Centriolar satellite;Cilium basal body NA PE1 3 +NX_Q8IYF1 753 83921 9.76 0 Nucleus NA PE1 18 +NX_Q8IYF3 940 107889 5.07 0 Chromosome Spermatogenic failure, X-linked, 2 PE1 X +NX_Q8IYG6 542 58733 8.05 0 NA NA PE2 11 +NX_Q8IYH5 903 102023 5.48 0 Nucleolus;Nucleus;Nucleus NA PE1 1 +NX_Q8IYI0 205 22938 4.72 0 Golgi apparatus;Cytoplasmic vesicle;Endoplasmic reticulum NA PE2 20 +NX_Q8IYI6 725 81799 5.35 0 Cytosol;Growth cone;Perinuclear region;Cell projection;Cytoplasm NA PE1 1 +NX_Q8IYI8 595 69106 9.33 0 Nucleus NA PE1 19 +NX_Q8IYJ0 282 30076 9.29 1 Nucleoplasm;Membrane NA PE1 12 +NX_Q8IYJ1 553 61864 5.18 0 NA NA PE1 3 +NX_Q8IYJ2 551 63656 8.91 0 Mitochondrion;Nucleoplasm;Nucleolus NA PE1 10 +NX_Q8IYJ3 562 61857 5.32 0 Cell membrane NA PE1 1 +NX_Q8IYK2 499 56909 9.89 0 NA NA PE1 19 +NX_Q8IYK4 626 72924 5.82 0 Nucleus;Endoplasmic reticulum lumen;Cytoplasmic vesicle NA PE1 1 +NX_Q8IYK8 340 37139 8.33 0 Cell membrane NA PE1 14 +NX_Q8IYL2 757 84629 6.98 0 Nucleoplasm;Cytoplasm NA PE1 4 +NX_Q8IYL3 243 25977 6.45 0 Nucleus;Nucleus NA PE1 1 +NX_Q8IYL9 337 39333 8.12 7 Cytosol;Cell membrane NA PE1 14 +NX_Q8IYM0 893 103722 9.08 0 NA NA PE1 12 +NX_Q8IYM1 358 40748 6.67 0 Spindle;Cytoskeleton;Cytoplasm;Cytoskeleton;Nucleus;Flagellum Spermatogenic failure 10 PE1 16 +NX_Q8IYM2 578 66972 8.84 0 NA NA PE1 17 +NX_Q8IYM9 498 56947 7.97 0 Nucleus;Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle;Cajal body NA PE1 11 +NX_Q8IYN0 542 62745 9.17 0 Nucleus NA PE1 19 +NX_Q8IYN2 117 13616 5.32 0 Nucleoplasm;Nucleus NA PE1 X +NX_Q8IYN6 164 17877 6.78 0 NA NA PE1 17 +NX_Q8IYP2 241 27085 6.36 0 Secreted NA PE1 7 +NX_Q8IYP9 409 45983 8.97 6 Nucleus;Membrane NA PE1 3 +NX_Q8IYQ7 743 83070 6.69 0 Cytosol;Nucleus;Mitochondrion NA PE1 10 +NX_Q8IYR0 622 71193 6.38 0 Cilium axoneme;Cell junction;Nucleoplasm NA PE1 6 +NX_Q8IYR2 804 89225 6.39 0 Cytosol;Golgi apparatus;Cytoplasmic vesicle;Nucleoplasm NA PE1 17 +NX_Q8IYR6 380 40934 6.27 1 Cell membrane NA PE1 9 +NX_Q8IYS0 662 76035 6.81 1 Membrane;Cell membrane;Cytosol NA PE1 3 +NX_Q8IYS1 436 47776 5.56 0 Nucleoplasm NA PE1 6 +NX_Q8IYS2 634 69157 8.44 1 Cytosol;Golgi apparatus;Membrane NA PE1 1 +NX_Q8IYS4 520 55682 4.83 0 Nucleus speckle NA PE1 16 +NX_Q8IYS5 282 30481 6.09 0 Nucleus;Nucleus membrane;Cell membrane;Secreted;Cytoplasmic vesicle NA PE1 19 +NX_Q8IYS8 172 18075 5.1 0 Kinetochore;Centrosome NA PE1 18 +NX_Q8IYT1 594 63177 9.67 0 NA NA PE1 1 +NX_Q8IYT2 770 88120 6.57 0 Nucleus speckle;Nucleus;Cytoplasm;Cell junction NA PE1 16 +NX_Q8IYT3 715 82277 6.22 0 Cell junction;Golgi apparatus NA PE1 6 +NX_Q8IYT4 538 61253 7.22 0 Nucleoplasm;Cytoskeleton;Cytoskeleton;Cytoplasm;Spindle;Spindle pole NA PE1 18 +NX_Q8IYT8 1036 112694 8.84 0 Cytoplasmic vesicle membrane NA PE1 17 +NX_Q8IYU2 909 102342 5.58 0 Endoplasmic reticulum;Endoplasmic reticulum;Cytoplasm;Golgi stack membrane Spastic paraplegia and psychomotor retardation with or without seizures PE1 6 +NX_Q8IYU4 475 52897 5.67 0 NA NA PE1 11 +NX_Q8IYU8 434 49666 9.17 0 Mitochondrion;Mitochondrion intermembrane space;Nucleus NA PE1 13 +NX_Q8IYV9 350 38930 6.11 1 Cell membrane NA PE1 19 +NX_Q8IYW2 2715 303500 7.07 0 Cilium axoneme NA PE1 10 +NX_Q8IYW4 607 67538 6.16 0 NA NA PE1 22 +NX_Q8IYW5 571 65020 8.26 0 Nucleus;Nucleoplasm;Nucleus Riddle syndrome PE1 3 +NX_Q8IYX0 411 47179 9.17 0 Nucleus NA PE1 7 +NX_Q8IYX1 336 39221 5.81 0 Acrosome;Cytoskeleton NA PE1 15 +NX_Q8IYX3 515 56940 9.7 0 Centrosome NA PE1 22 +NX_Q8IYX4 353 38687 9.74 0 Nucleus;Cytoplasm NA PE1 5 +NX_Q8IYX7 474 54621 8.68 0 Centriole;Cilium axoneme;Centrosome;Flagellum axoneme;Cilium basal body NA PE1 9 +NX_Q8IYX8 460 53649 8.82 0 Cell membrane;Centrosome;Cytosol NA PE1 6 +NX_Q8IYY4 767 86848 6.85 0 Cytoskeleton;Nucleoplasm;Centriole;Cilium basal body;Cytoskeleton Polycystic kidney disease 5 PE1 3 +NX_Q8IZ02 419 46384 6.07 0 Cytoskeleton;Nucleus;Cytoskeleton;Cell junction;Nucleolus;Cytoplasm NA PE1 3 +NX_Q8IZ07 590 67619 4.93 0 Late endosome;Cell membrane;Cell membrane NA PE1 12 +NX_Q8IZ08 494 51736 9.88 7 Cell membrane NA PE2 14 +NX_Q8IZ13 594 68327 5.98 0 Nucleoplasm NA PE1 5 +NX_Q8IZ16 206 23862 10.41 0 Cytoplasmic vesicle NA PE1 7 +NX_Q8IZ20 524 56905 9.01 0 Nucleus NA PE1 1 +NX_Q8IZ21 702 78211 6.2 0 Cytoplasm;Cytoskeleton;Cytosol;Cell membrane;Lamellipodium NA PE1 1 +NX_Q8IZ26 560 64038 9.05 0 Nucleus;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA PE1 8 +NX_Q8IZ40 523 58012 9.08 0 Midbody;Nucleus;Cytoplasmic vesicle;Nucleus NA PE1 11 +NX_Q8IZ41 740 82879 4.99 0 Cytoskeleton;Perinuclear region NA PE1 9 +NX_Q8IZ52 775 85467 6.45 1 Centrosome;Cytoplasmic vesicle;Cytosol;Golgi stack membrane;Cytosol;Mitochondrion matrix;Mitochondrion NA PE1 2 +NX_Q8IZ57 195 21475 7.61 2 Membrane;Nucleus;Cytoplasmic vesicle NA PE1 6 +NX_Q8IZ63 422 43980 4.97 0 Nucleus;Cytosol;Cytoplasmic vesicle NA PE1 19 +NX_Q8IZ69 625 68726 8.21 0 Cytosol;Nucleus NA PE1 22 +NX_Q8IZ73 545 61311 6.72 0 Nucleoplasm;Cytoskeleton NA PE1 15 +NX_Q8IZ81 293 34961 8.12 0 Nucleolus;Nucleus;Cytosol NA PE1 4 +NX_Q8IZ83 802 85127 6.35 0 Mitochondrion NA PE1 19 +NX_Q8IZ96 169 18576 6.5 4 Nucleoplasm;Membrane NA PE1 16 +NX_Q8IZA0 1049 115658 5.71 2 Golgi apparatus;Nucleolus;Cell membrane;trans-Golgi network membrane;Golgi apparatus membrane;Cytoplasmic granule membrane NA PE1 1 +NX_Q8IZA3 346 35813 11.27 0 Cytoplasm;Nucleus;Chromosome NA PE2 3 +NX_Q8IZC4 609 69304 8.03 0 Mitochondrion;Nucleoplasm NA PE1 10 +NX_Q8IZC6 1860 186892 9.83 0 Extracellular matrix Steel syndrome PE1 9 +NX_Q8IZC7 436 50339 9.67 0 Nucleus NA PE1 19 +NX_Q8IZD0 417 45056 9.41 0 Nucleus;Nucleolus NA PE1 17 +NX_Q8IZD2 1858 204965 7.41 0 Cell membrane;Cytoplasm;Nucleus speckle NA PE1 7 +NX_Q8IZD4 617 67723 8.75 0 Cytoplasm;Nucleus;Cytosol;Cytoplasmic vesicle NA PE1 12 +NX_Q8IZD6 547 60540 5.41 12 Membrane;Cytoplasmic vesicle NA PE1 1 +NX_Q8IZD9 2030 233103 6.52 0 Cytoplasm;Cytosol NA PE1 3 +NX_Q8IZE3 742 82857 4.96 0 Golgi apparatus;Nucleus;Cytoskeleton;Cytoplasm;Golgi apparatus;Lamellipodium NA PE1 1 +NX_Q8IZF0 1738 200331 8.93 24 Membrane Hypotonia, infantile, with psychomotor retardation and characteristic facies 1;Congenital contractures of the limbs and face, hypotonia, and developmental delay PE1 13 +NX_Q8IZF2 1346 149457 6.23 7 Cell membrane NA PE1 6 +NX_Q8IZF3 695 77719 9.23 7 Mitochondrion;Membrane NA PE1 6 +NX_Q8IZF4 528 59000 8.69 7 Cytoplasmic vesicle;Nucleus membrane;Nucleoplasm;Cell membrane NA PE1 16 +NX_Q8IZF5 1079 116341 7.44 7 Membrane NA PE2 2 +NX_Q8IZF6 3080 333368 5.82 7 Membrane NA PE2 X +NX_Q8IZF7 708 78569 8.45 7 Membrane NA PE2 6 +NX_Q8IZH2 1706 194107 6.78 0 Cytoplasm;Cell membrane;Cytosol NA PE1 3 +NX_Q8IZI9 196 21706 8.69 0 Secreted NA PE1 19 +NX_Q8IZJ0 200 22288 8.15 0 Secreted NA PE2 19 +NX_Q8IZJ1 945 103638 5.68 1 Cell membrane;Membrane raft NA PE1 10 +NX_Q8IZJ3 1885 206702 6 0 Cell membrane;Secreted;Focal adhesion Anterior segment dysgenesis 8 PE1 19 +NX_Q8IZJ4 473 52346 8.17 0 Cytoplasmic vesicle NA PE2 22 +NX_Q8IZJ6 230 25407 9.58 0 Mitochondrion NA PE2 8 +NX_Q8IZK6 566 65942 7.73 6 Cell membrane;Cytoskeleton;Late endosome membrane;Lysosome membrane;Recycling endosome membrane NA PE1 1 +NX_Q8IZL2 1156 125197 9.45 0 Nucleus;Nucleus speckle;Cytosol;Nucleoplasm NA PE1 11 +NX_Q8IZL8 1130 119700 4.29 0 Nucleus;Nucleolus;Nucleus;Nucleolus;Nucleoplasm;Cytoplasm NA PE1 17 +NX_Q8IZL9 346 38695 6.27 0 Nucleoplasm;Cilium;Cytoplasm;Nucleus NA PE1 9 +NX_Q8IZM0 81 9081 11.39 0 NA NA PE5 4 +NX_Q8IZM8 581 65854 5.36 0 Nucleus;Cytoskeleton;Nucleus NA PE1 3 +NX_Q8IZM9 456 50929 8.02 11 Cytoskeleton;Cell membrane;Cell junction;Cell membrane NA PE1 14 +NX_Q8IZN3 488 53388 8.59 4 Mitochondrion;Nucleolus;Membrane NA PE1 6 +NX_Q8IZN7 70 7846 9.45 0 Secreted NA PE2 8 +NX_Q8IZP0 508 55081 6.57 0 Cell membrane;Cell junction;Cytoplasm;Nucleus;Lamellipodium;Filopodium;Growth cone;Postsynaptic density;Cytoskeleton NA PE1 10 +NX_Q8IZP1 549 62187 9.24 0 Cell membrane;Cell membrane NA PE1 17 +NX_Q8IZP2 240 27407 5.01 0 Cytoplasm NA PE5 13 +NX_Q8IZP6 322 36259 7.54 0 NA NA PE1 13 +NX_Q8IZP7 471 54844 6.39 1 Nucleolus;Nucleus;Membrane NA PE1 13 +NX_Q8IZP9 1017 111593 7.66 7 Cell membrane;Cytosol;Apical cell membrane Congenital bilateral aplasia of the vas deferens, X-linked PE1 X +NX_Q8IZQ1 3526 395258 6.3 0 Cytosol;Nucleus membrane;Nucleolus;Cell membrane;PML body;Membrane;Cytosol;Perikaryon;Axon Microcephaly 18, primary, autosomal dominant PE1 4 +NX_Q8IZQ5 122 13453 9.76 0 Nucleus;Nucleolus NA PE1 11 +NX_Q8IZQ8 938 101997 6.17 0 Nucleus NA PE1 17 +NX_Q8IZR5 234 25828 7.65 4 Golgi apparatus;Cytoplasmic vesicle;Cell membrane;Membrane NA PE1 16 +NX_Q8IZS5 231 26754 5.89 0 NA NA PE1 6 +NX_Q8IZS6 198 23176 9.34 0 Cytoskeleton;Cytoplasmic granule;Membrane NA PE1 6 +NX_Q8IZS7 167 19115 9.44 1 Cell membrane NA PE2 12 +NX_Q8IZS8 1091 123011 5.53 1 Membrane;Nucleus;Cytosol NA PE1 3 +NX_Q8IZT6 3477 409800 10.45 0 Cytosol;Cytoplasm;Spindle;Nucleus;Cell membrane Microcephaly 5, primary, autosomal recessive PE1 1 +NX_Q8IZT8 346 40408 9.8 1 Golgi apparatus membrane NA PE1 6 +NX_Q8IZT9 166 19210 5.16 0 Nucleus NA PE1 X +NX_Q8IZU0 186 22438 5.31 0 Nucleus;Nucleoplasm NA PE1 X +NX_Q8IZU1 332 37339 4.82 0 Nucleolus NA PE1 X +NX_Q8IZU2 1322 147703 6.01 0 Nucleus speckle NA PE1 4 +NX_Q8IZU3 236 27729 9.22 0 Nucleus;Chromosome;Centromere Spermatogenic failure 4;Pregnancy loss, recurrent, 4 PE1 12 +NX_Q8IZU8 1212 139238 8.48 2 Cell membrane;Nucleoplasm;Membrane NA PE1 18 +NX_Q8IZU9 778 85255 6.46 1 Cell membrane;Secreted Mental retardation, autosomal dominant 4 PE1 11 +NX_Q8IZV2 173 19572 6.06 4 Nucleoplasm;Membrane;Cytoplasm;Nucleus NA PE1 3 +NX_Q8IZV5 341 38087 7.11 1 Endoplasmic reticulum membrane;Microsome membrane;Lipid droplet NA PE1 8 +NX_Q8IZW8 715 76764 7.01 0 Focal adhesion;Cytoskeleton NA PE1 17 +NX_Q8IZX4 1826 207302 5.26 0 Nucleus NA PE1 9 +NX_Q8IZY2 2146 234350 6.85 15 Golgi apparatus;Cell junction;Cell membrane;Golgi apparatus membrane;Early endosome membrane;Cell membrane Alzheimer disease 9 PE1 19 +NX_Q8IZY5 108 12045 6.73 0 Cytoplasm;Mitochondrion NA PE1 11 +NX_Q8J025 514 58797 8.43 1 Cell membrane Hypotrichosis 1 PE1 18 +NX_Q8MH63 180 18779 6.72 3 Membrane NA PE5 16 +NX_Q8N0S2 351 39699 5.89 0 Nucleus;Cytosol;Nucleoplasm;Chromosome Spermatogenic failure, 15;Premature ovarian failure 12 PE1 10 +NX_Q8N0S6 344 38998 6.08 0 Nucleus;Centromere NA PE1 1 +NX_Q8N0T1 100 11456 10.46 0 Mitochondrion;Cytosol;Nucleolus;Nucleus NA PE1 8 +NX_Q8N0U2 210 22170 4.54 2 Membrane NA PE2 1 +NX_Q8N0U4 392 42301 8.22 0 Cytosol NA PE1 7 +NX_Q8N0U6 118 13361 4.89 0 NA NA PE5 6 +NX_Q8N0U7 546 62035 8.82 0 NA NA PE1 1 +NX_Q8N0U8 176 19836 9.28 4 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 7 +NX_Q8N0V1 137 14971 9.08 0 NA NA PE5 21 +NX_Q8N0V3 343 38359 8.01 0 Mitochondrion;Mitochondrion NA PE1 18 +NX_Q8N0V4 545 62298 6.47 0 Secreted;Centrosome NA PE1 4 +NX_Q8N0V5 402 45873 6.73 1 Golgi apparatus;Golgi apparatus membrane;Golgi apparatus Cataract 13, with adult i phenotype PE1 6 +NX_Q8N0W3 1084 117623 5.84 0 Cytoplasmic vesicle NA PE1 16 +NX_Q8N0W4 816 91915 5.78 1 Cell membrane;Postsynaptic density Autism, X-linked 2;Asperger syndrome, X-linked, 2 PE1 X +NX_Q8N0W5 287 33292 8.49 0 Nucleolus;Cytosol;Nucleus speckle;Nucleus NA PE1 16 +NX_Q8N0W7 255 29241 9.19 2 Membrane NA PE1 X +NX_Q8N0X2 631 70818 5.9 0 Cell membrane;Cytoplasm;Cytosol;Flagellum axoneme;Cilium axoneme NA PE1 2 +NX_Q8N0X4 340 37359 8.88 0 Cytosol;Mitochondrion NA PE1 13 +NX_Q8N0X7 666 72833 5.66 0 Cytoplasm;Midbody;Cytosol;Cytoplasm;Cell membrane Spastic paraplegia 20, autosomal recessive PE1 13 +NX_Q8N0Y2 327 35204 8.9 0 Nucleolus;Nucleus;Nucleus NA PE1 19 +NX_Q8N0Y3 316 35724 9.03 7 Centrosome;Cell membrane NA PE2 15 +NX_Q8N0Y5 310 34661 8.56 7 Cell membrane NA PE2 11 +NX_Q8N0Y7 254 28777 6.19 0 NA NA PE1 X +NX_Q8N0Z2 381 43117 8.7 0 Sarcomere;Cytoskeleton NA PE1 8 +NX_Q8N0Z3 855 96264 7.03 0 Centriole;Spindle;Centrosome NA PE1 3 +NX_Q8N0Z6 440 48928 6.05 0 Nucleus;Nucleoplasm;Cytoplasm NA PE1 14 +NX_Q8N0Z8 303 33233 9.89 0 Cytoplasmic vesicle NA PE1 1 +NX_Q8N0Z9 540 59217 4.62 1 Cell membrane;Cytosol;Membrane NA PE1 12 +NX_Q8N100 152 16871 9.61 0 Nucleus Persistent hyperplastic primary vitreous, autosomal recessive PE1 10 +NX_Q8N103 731 80703 6.04 0 NA NA PE1 6 +NX_Q8N104 65 7369 8.96 0 Secreted;Membrane NA PE1 8 +NX_Q8N108 512 57983 4.34 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 1 +NX_Q8N109 375 40678 8.36 1 Cell membrane NA PE3 19 +NX_Q8N111 149 14954 9.24 1 Mitochondrion;Membrane NA PE1 11 +NX_Q8N112 164 17868 5.69 1 Membrane NA PE1 3 +NX_Q8N114 240 25582 6.26 1 Nucleus membrane;Endoplasmic reticulum membrane NA PE1 3 +NX_Q8N118 509 58875 8.74 1 Microsome membrane;Endoplasmic reticulum membrane NA PE1 1 +NX_Q8N119 569 65043 9.19 0 Secreted Heterotaxy, visceral, 7, autosomal PE2 10 +NX_Q8N122 1335 149038 6.43 0 Lysosome;Cytoplasmic granule;Cytosol;Nucleoplasm;Cytoplasm;Lysosome NA PE1 17 +NX_Q8N123 301 34727 8.9 0 NA NA PE2 X +NX_Q8N126 398 43300 5.71 1 Cell membrane;Cell junction NA PE1 1 +NX_Q8N127 324 36653 8.63 7 Cell membrane NA PE3 11 +NX_Q8N128 213 23757 4.4 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 14 +NX_Q8N129 248 28310 4.6 0 Cytoplasmic vesicle;Secreted NA PE1 7 +NX_Q8N130 599 63550 8.62 8 Membrane Hereditary hypophosphatemic rickets with hypercalciuria PE1 9 +NX_Q8N131 208 21531 8.76 1 Membrane;Cytosol;Cell membrane NA PE1 11 +NX_Q8N135 537 59141 7.28 0 Secreted;Golgi apparatus NA PE1 19 +NX_Q8N136 415 45777 6.12 0 Nucleoplasm;Cilium;Nucleus NA PE1 2 +NX_Q8N137 903 101253 5.41 0 Cytosol;Centrosome;Centriole NA PE1 17 +NX_Q8N138 153 17495 9.64 2 Endoplasmic reticulum membrane Asthma PE1 17 +NX_Q8N139 1617 184286 7.05 14 Nucleoplasm;Membrane NA PE1 17 +NX_Q8N140 333 38168 5.03 0 Nucleolus;Cytoplasm;Nucleus;Nucleus;Telomere NA PE1 12 +NX_Q8N141 532 62578 9.2 0 Nucleus;Nucleus NA PE1 19 +NX_Q8N142 457 50208 8.76 0 Cytoplasm Myopathy, distal, 5 PE1 14 +NX_Q8N143 479 51531 9.23 0 Nucleus NA PE1 17 +NX_Q8N144 294 31933 8.94 4 Gap junction;Cell membrane NA PE1 17 +NX_Q8N145 548 61704 8.15 0 Secreted;Synaptic vesicle;Synaptosome;Cytosol NA PE1 8 +NX_Q8N146 312 35219 8.53 7 Cell membrane NA PE3 11 +NX_Q8N148 313 34902 8.32 7 Cell membrane NA PE2 7 +NX_Q8N149 483 52992 6.43 1 Cell membrane;Secreted NA PE1 19 +NX_Q8N157 1196 137115 6.67 0 Cytoplasm;Centrosome;Cilium basal body;Adherens junction;Centriole Joubert syndrome 3 PE1 6 +NX_Q8N158 579 62830 8.33 0 Endoplasmic reticulum;Nucleolus;Nucleus;Cell membrane;Extracellular space;Golgi apparatus NA PE1 7 +NX_Q8N159 534 58156 9.12 0 Mitochondrion matrix;Mitochondrion N-acetylglutamate synthase deficiency PE1 17 +NX_Q8N162 312 35422 9.03 7 Cell membrane NA PE3 11 +NX_Q8N163 923 102902 5.14 0 Nucleus;Nucleoplasm;Nucleus;Nucleus;Cytoplasm NA PE1 8 +NX_Q8N165 341 38546 6.42 0 Nucleus;Nucleoplasm NA PE1 1 +NX_Q8N183 169 19856 8.94 0 Mitochondrion;Mitochondrion;Mitochondrion Mitochondrial complex I deficiency;Leigh syndrome PE1 5 +NX_Q8N184 647 75164 9.3 0 Nucleoplasm;Cytosol;Nucleus NA PE1 19 +NX_Q8N187 725 80698 5.47 0 Nucleus;Cytoskeleton;Nucleolus;Cytoplasmic vesicle;Cytosol NA PE1 2 +NX_Q8N196 739 74562 4.93 0 Nucleus;Cytoplasm Branchiootorenal syndrome 2 PE1 19 +NX_Q8N1A0 295 34158 5.63 0 Cytoplasmic vesicle;Lipid droplet NA PE1 17 +NX_Q8N1A6 199 23468 5.27 0 Nucleus;Golgi apparatus NA PE1 4 +NX_Q8N1B3 248 28369 5.84 0 Nucleus;Cytoplasm Toe syndactyly, telecanthus, and anogenital and renal malformations PE1 X +NX_Q8N1B4 723 82221 5.7 0 Recycling endosome;Endosome membrane;trans-Golgi network membrane NA PE1 6 +NX_Q8N1C3 465 53595 8.39 4 Cell membrane;Postsynaptic cell membrane NA PE2 4 +NX_Q8N1D0 253 27061 9.87 0 Nucleus;Nucleoplasm NA PE2 11 +NX_Q8N1D5 194 23067 9.73 0 Cytosol NA PE1 1 +NX_Q8N1E2 194 21431 8.47 0 Secreted NA PE2 2 +NX_Q8N1E6 418 45886 9.15 0 Nucleoplasm;Cytosol;Cytoplasm;Golgi apparatus NA PE1 12 +NX_Q8N1F1 130 13824 9.49 0 Mitochondrion NA PE5 17 +NX_Q8N1F7 819 93488 5.5 0 Nucleus membrane;Nucleus;Nucleus membrane;Nuclear pore complex;Nucleus envelope Nephrotic syndrome 12 PE1 16 +NX_Q8N1F8 1099 121401 5.26 0 Cytoplasmic vesicle;Cytoplasm NA PE1 2 +NX_Q8N1G0 1237 129529 8.56 0 Cytoplasm;Nucleoplasm;Nucleus Paget disease of bone 6 PE1 1 +NX_Q8N1G1 1221 131510 9.12 0 Nucleus;Nucleoplasm;Nucleus NA PE1 19 +NX_Q8N1G2 835 95321 6.64 0 Nucleoplasm;Cytosol;Nucleus NA PE1 6 +NX_Q8N1G4 583 63473 8.55 0 Nucleolus NA PE1 1 +NX_Q8N1H7 587 68166 5.39 0 Chromosome;Nucleolus;Nucleus NA PE1 14 +NX_Q8N1I0 1966 225206 7.57 0 Cytosol;Cell membrane;Cytosol;Cell projection;Cell membrane;Golgi apparatus;Nucleolus NA PE1 7 +NX_Q8N1I8 211 22698 6.31 0 NA NA PE2 19 +NX_Q8N1K5 641 73452 5.62 0 Cytoplasm;Nucleus NA PE1 6 +NX_Q8N1L1 170 18115 6.03 0 NA NA PE5 22 +NX_Q8N1L4 340 40159 9.25 1 Membrane NA PE5 1 +NX_Q8N1L9 274 29398 7.2 0 Nucleolus;Nucleus NA PE1 11 +NX_Q8N1M1 668 76107 6.13 4 Cytoplasm;Cell membrane;Cell membrane NA PE2 12 +NX_Q8N1N0 589 65519 6.23 1 Membrane NA PE2 2 +NX_Q8N1N2 210 22529 5.27 1 Cell membrane;Golgi apparatus membrane NA PE1 18 +NX_Q8N1N4 520 56866 5.79 0 NA NA PE1 12 +NX_Q8N1N5 446 48076 8.42 0 Nucleus;Membrane;Cytoplasm NA PE1 4 +NX_Q8N1P7 616 68646 4.99 0 Nucleoplasm NA PE1 1 +NX_Q8N1Q1 262 29443 6.45 0 Nucleolus;Cytoplasmic vesicle;Nucleus NA PE1 8 +NX_Q8N1Q8 247 27677 7.61 0 Mitochondrion matrix NA PE1 1 +NX_Q8N1S5 342 35396 5.44 7 Cytoplasm;Cell membrane;Golgi apparatus;Nucleus;Nucleoplasm NA PE1 17 +NX_Q8N1T3 1032 119037 9.19 0 NA NA PE1 12 +NX_Q8N1V2 620 68298 6.51 0 Cytoplasm;Flagellum NA PE1 17 +NX_Q8N1V8 128 13299 7.66 0 NA NA PE2 10 +NX_Q8N1W1 1705 191891 5.69 0 Cell membrane;Cytoplasm;Cytosol;Cytoskeleton;Cell membrane NA PE1 5 +NX_Q8N1W2 664 74461 6.33 0 Nucleoplasm;Nucleus;Mitochondrion NA PE1 15 +NX_Q8N1X5 172 16487 12.11 0 NA NA PE2 6 +NX_Q8N1Y9 231 24915 6.89 1 Membrane NA PE5 9 +NX_Q8N201 2190 244297 5.77 1 Nucleoplasm;Nucleus membrane NA PE1 7 +NX_Q8N205 404 43512 5.48 1 Nucleus outer membrane Deafness, autosomal recessive, 76 PE1 19 +NX_Q8N228 414 45023 9.78 0 Nucleoplasm;Nucleus NA PE1 6 +NX_Q8N239 644 70612 5.41 0 NA NA PE2 X +NX_Q8N257 126 13908 10.31 0 Chromosome;Nucleus NA PE1 1 +NX_Q8N264 748 84258 6.24 0 Cytoskeleton;Cell membrane;Adherens junction;Cytoskeleton;Focal adhesion;Cell projection;Cytosol NA PE1 4 +NX_Q8N268 126 14459 9.37 0 NA NA PE2 20 +NX_Q8N271 834 91883 5.8 5 Basolateral cell membrane;Apical cell membrane;Cell junction;Cell membrane;Microvillus membrane;Cilium membrane;Nucleoplasm NA PE1 2 +NX_Q8N283 1001 109966 5.76 0 Cell membrane NA PE1 1 +NX_Q8N292 157 17883 8.67 1 Cell membrane NA PE1 5 +NX_Q8N2A0 174 18329 6.74 0 NA NA PE5 X +NX_Q8N2A8 252 28273 9.53 1 Mitochondrion outer membrane NA PE1 17 +NX_Q8N2B8 174 19079 11.57 0 NA NA PE2 2 +NX_Q8N2C3 294 33694 6.71 0 Cytoskeleton NA PE2 12 +NX_Q8N2C7 3258 363390 6.4 4 Membrane;Cytoplasmic vesicle Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 PE1 2 +NX_Q8N2C9 162 18019 7.18 0 NA NA PE2 21 +NX_Q8N2E2 1590 176780 5.42 0 Secreted;Nucleoplasm;Cytosol NA PE1 7 +NX_Q8N2E6 242 26262 10.17 0 Secreted NA PE1 9 +NX_Q8N2F6 343 37540 6.16 1 Mitochondrion;Endoplasmic reticulum membrane NA PE1 7 +NX_Q8N2G4 141 15240 8.4 0 Endoplasmic reticulum;Cell membrane NA PE1 2 +NX_Q8N2G6 241 26955 8.97 0 Mitochondrion;Nucleoplasm NA PE1 10 +NX_Q8N2G8 530 57523 8.05 0 Endoplasmic reticulum;Nucleus envelope NA PE1 17 +NX_Q8N2H3 581 63068 6.47 0 Mitochondrion NA PE1 10 +NX_Q8N2H4 156 17615 7.62 4 Golgi apparatus membrane NA PE1 20 +NX_Q8N2H9 469 50755 7.24 0 Nucleolus;Cytoplasmic vesicle;Nucleus NA PE1 11 +NX_Q8N2I2 560 63322 8.72 0 Nucleoplasm;Nucleus;Cytoskeleton NA PE1 3 +NX_Q8N2I9 435 49001 8.04 0 Nucleus;Cytoplasm;Nucleoplasm;Cytosol NA PE1 1 +NX_Q8N2K0 398 45097 8.87 1 Membrane Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract PE1 20 +NX_Q8N2K1 259 28898 8.6 1 Endoplasmic reticulum membrane NA PE1 1 +NX_Q8N2M4 240 26398 8.92 7 Membrane NA PE2 11 +NX_Q8N2M8 674 77161 10.44 0 Nucleus;Nucleus NA PE1 19 +NX_Q8N2N9 1353 153582 9.01 0 NA NA PE1 2 +NX_Q8N2Q7 840 93835 5.79 1 Cell membrane;Cell membrane;Postsynaptic density;Nucleus;Synapse NA PE1 3 +NX_Q8N2R0 312 35513 9.66 0 Nucleus;Nucleus;Cell membrane NA PE1 8 +NX_Q8N2R8 423 45776 6.1 0 Cytoplasmic vesicle NA PE1 3 +NX_Q8N2S1 1624 173435 5.27 0 Extracellular matrix Duchenne muscular dystrophy;Urban-Rifkin-Davis syndrome PE1 19 +NX_Q8N2U0 113 11742 9.1 2 Membrane;Cytoplasmic vesicle NA PE1 17 +NX_Q8N2U9 271 30478 8.34 6 Membrane;Nucleoplasm NA PE1 18 +NX_Q8N2W9 510 56504 5.84 0 PML body;Nucleoplasm NA PE1 19 +NX_Q8N2X6 119 12661 11.04 0 Secreted NA PE1 5 +NX_Q8N2Y8 1516 161225 6.17 0 Cytosol NA PE1 9 +NX_Q8N2Z9 138 15893 5.83 0 Nucleus;Centromere;Kinetochore NA PE1 1 +NX_Q8N300 66 7808 9.21 0 Nucleus;Secreted;Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 1 +NX_Q8N302 714 80977 5.29 0 Secreted;Cytoplasm Klippel-Trenaunay syndrome PE1 5 +NX_Q8N307 709 71982 4.95 0 Cytosol;Nucleoplasm;Cell membrane;Secreted;Apical cell membrane;Basolateral cell membrane;Microvillus membrane NA PE1 3 +NX_Q8N309 656 73022 5.17 0 Cytoplasmic vesicle;Golgi apparatus NA PE1 12 +NX_Q8N319 242 26113 12.2 0 Nucleolus NA PE2 6 +NX_Q8N323 547 63178 8.78 0 Secreted NA PE1 11 +NX_Q8N326 155 17766 10.01 1 Membrane NA PE1 10 +NX_Q8N328 593 67595 7.81 0 Nucleus NA PE1 10 +NX_Q8N335 351 38419 6.61 0 Cytoplasm Sudden infant death syndrome;Brugada syndrome 2 PE1 3 +NX_Q8N336 334 39052 8.78 0 Cytosol;Nucleoplasm NA PE1 11 +NX_Q8N339 61 6110 8.05 0 NA NA PE1 16 +NX_Q8N344 545 59944 4.53 0 Cytosol;Nucleoplasm;Nucleus NA PE1 19 +NX_Q8N349 312 35634 9.09 7 Cell membrane NA PE2 1 +NX_Q8N350 705 73929 5.96 1 Synaptic vesicle membrane;Nucleoplasm;Cell membrane;Growth cone NA PE1 19 +NX_Q8N357 371 40214 6.44 9 Endosome;Nucleoplasm;Cytosol;Cytoplasmic vesicle;Mitochondrion;Lysosome membrane NA PE1 2 +NX_Q8N365 385 41443 9.49 0 Nucleus;Nucleoplasm;PML body NA PE1 1 +NX_Q8N370 569 62747 8.25 12 Cell membrane;Golgi apparatus;Membrane NA PE1 17 +NX_Q8N371 416 47270 5.51 0 Cytosol;Nucleoplasm;Nucleus NA PE1 16 +NX_Q8N377 158 15598 7.64 0 NA NA PE5 10 +NX_Q8N386 305 33179 4.88 1 Membrane NA PE1 19 +NX_Q8N387 334 36294 4.93 1 Cell membrane;Secreted NA PE1 11 +NX_Q8N392 663 74977 6.1 0 Cytoplasm;Cytoplasm;Nucleus speckle;Cell membrane;Cytosol NA PE1 6 +NX_Q8N393 782 89815 9.39 0 Nucleus;Nucleoplasm;Nucleus speckle;Nucleus NA PE1 7 +NX_Q8N394 836 94130 8.94 10 Endoplasmic reticulum;Cytosol;Cytoskeleton;Membrane NA PE1 12 +NX_Q8N398 1253 132764 6.02 0 Nucleus;Golgi apparatus NA PE1 3 +NX_Q8N3A8 854 95871 8.58 0 Cytoplasm;Nucleus;Nucleoplasm;Cytosol NA PE1 5 +NX_Q8N3C0 2202 251460 6.64 0 Nucleus;Cytoplasm;Nucleus;Cytosol;Golgi apparatus NA PE1 6 +NX_Q8N3C7 705 76317 8.93 0 Cytoplasmic vesicle NA PE1 2 +NX_Q8N3D4 1523 161854 4.8 0 Nucleolus;Endosome;Cell membrane;Cytosol NA PE1 11 +NX_Q8N3E9 789 89258 6.52 0 Membrane;Cytoplasm;Cleavage furrow;Cell membrane NA PE1 17 +NX_Q8N3F0 131 14925 4.03 0 Cytosol NA PE1 7 +NX_Q8N3F8 863 93441 6.88 0 Late endosome membrane;Recycling endosome membrane;Cell junction;Cytosol;Microtubule organizing center NA PE1 22 +NX_Q8N3F9 429 47075 7.16 7 Membrane;Cytoplasmic vesicle NA PE1 14 +NX_Q8N3G9 435 48329 6.07 1 Golgi apparatus membrane;Golgi apparatus;Golgi apparatus;Endoplasmic reticulum NA PE1 7 +NX_Q8N3H0 131 14620 9.46 0 Cytoplasm NA PE1 12 +NX_Q8N3I7 341 38755 5.39 0 Nucleus;Cytoplasm;Cilium membrane;Cytoplasm;Cilium basal body;Centriolar satellite Bardet-Biedl syndrome 5 PE1 2 +NX_Q8N3J2 472 54041 6.39 0 Mitochondrion NA PE1 18 +NX_Q8N3J3 647 69771 5.85 0 Nucleoplasm;Cytosol NA PE1 17 +NX_Q8N3J5 372 40997 6.27 0 Mitochondrion;Mitochondrion matrix;Mitochondrion Maple syrup urine disease, mild variant PE1 4 +NX_Q8N3J6 435 47554 5.17 1 Axon;Cell membrane;Cell membrane;Synapse NA PE1 3 +NX_Q8N3J9 261 30284 9.03 0 Nucleus;Nucleoplasm;Nucleus NA PE1 12 +NX_Q8N3K9 4069 449211 4.73 0 M line;Cytoplasm;Perinuclear region NA PE1 5 +NX_Q8N3L3 684 76519 4.9 0 NA NA PE1 6 +NX_Q8N3P4 1428 161754 5.41 0 Early endosome;Cytosol;Cell membrane NA PE1 3 +NX_Q8N3R3 496 57925 8.9 0 Mitochondrion;Mitochondrion NA PE1 3 +NX_Q8N3R9 675 77294 5.77 0 Cytoplasm;Cell membrane;Endomembrane system;Cytosol;Nucleoplasm;Tight junction;Cell membrane NA PE1 14 +NX_Q8N3S3 785 88757 9.09 0 Endoplasmic reticulum;Nucleus;Cytosol;Nucleoplasm NA PE1 7 +NX_Q8N3T1 639 73063 6.44 1 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus;Cell membrane NA PE1 3 +NX_Q8N3T6 1108 121787 5.95 1 Centrosome;Membrane;Cytosol NA PE1 12 +NX_Q8N3U1 123 12695 5.54 0 NA NA PE2 19 +NX_Q8N3U4 1231 141326 5.27 0 Nucleus;Chromosome;Centromere NA PE1 X +NX_Q8N3V7 929 99463 8.92 0 Cytoskeleton;Cytoskeleton;Cytoskeleton;Nucleoplasm;Cytosol;Tight junction;Perikaryon;Dendritic spine;Postsynaptic density;Synapse NA PE1 5 +NX_Q8N3X1 1017 110266 4.68 0 Nucleus speckle NA PE1 11 +NX_Q8N3X6 602 66964 8.2 0 Nucleus membrane;Nucleus;Nucleoplasm NA PE1 4 +NX_Q8N3Y1 598 67394 5.42 0 Perinuclear region;Golgi apparatus;Cytosol NA PE1 12 +NX_Q8N3Y3 721 81787 7.69 1 Golgi apparatus membrane NA PE1 11 +NX_Q8N3Y7 309 34095 8.72 2 Endoplasmic reticulum membrane NA PE1 8 +NX_Q8N3Z0 413 47098 9.72 0 Secreted NA PE1 6 +NX_Q8N3Z3 284 32147 9.47 0 Mitochondrion NA PE1 3 +NX_Q8N3Z6 543 63052 7.03 0 Cytosol;Nucleolus;Nucleolus NA PE1 9 +NX_Q8N402 240 26933 4.58 0 NA NA PE2 22 +NX_Q8N412 459 50660 9.6 0 NA NA PE2 4 +NX_Q8N413 288 31906 9.32 6 Cytosol;Nucleoplasm;Mitochondrion inner membrane NA PE2 11 +NX_Q8N414 524 58464 9.03 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q8N423 598 65039 6.79 1 Membrane NA PE1 19 +NX_Q8N427 588 67270 4.9 0 Cytoplasm Ciliary dyskinesia, primary, 6 PE1 7 +NX_Q8N428 558 63074 9.28 1 Nucleus;Golgi apparatus membrane NA PE1 14 +NX_Q8N431 466 52870 7.58 0 Mitochondrion NA PE2 5 +NX_Q8N434 492 53991 9.07 10 Membrane NA PE2 7 +NX_Q8N436 756 85870 6.4 0 Secreted NA PE1 10 +NX_Q8N441 504 54537 9.79 1 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Membrane NA PE1 4 +NX_Q8N442 669 74328 8.75 0 Mitochondrion;Mitochondrion inner membrane;Nucleus Epileptic encephalopathy, early infantile, 40 PE1 4 +NX_Q8N443 379 44015 8.92 0 Nucleus NA PE1 X +NX_Q8N446 348 37065 9.85 0 NA NA PE1 16 +NX_Q8N448 690 76004 6.17 0 Cell membrane;Cytoplasmic vesicle NA PE1 13 +NX_Q8N456 261 29737 9.83 0 Cytoplasm NA PE1 10 +NX_Q8N461 479 51658 6.09 0 NA NA PE1 16 +NX_Q8N465 521 56416 8.21 0 Mitochondrion D-2-hydroxyglutaric aciduria 1 PE1 2 +NX_Q8N468 514 56265 8.67 12 Endosome;Membrane NA PE1 1 +NX_Q8N474 314 35386 9.1 0 Nucleolus;Cytosol;Secreted NA PE1 8 +NX_Q8N475 847 95751 5.61 0 Secreted NA PE1 4 +NX_Q8N485 282 31891 5.37 0 NA NA PE2 5 +NX_Q8N488 228 24822 9.66 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 3 +NX_Q8N490 385 42876 9.22 0 Mitochondrion;Membrane;Cytoplasm;Nucleus;Mitochondrion Dystonia 8 PE1 2 +NX_Q8N4A0 578 66666 7.55 1 Golgi apparatus;Golgi apparatus membrane NA PE1 12 +NX_Q8N4B1 249 27215 9.18 0 Clathrin-coated vesicle;trans-Golgi network;Recycling endosome;Early endosome NA PE1 12 +NX_Q8N4B4 442 52646 9.1 0 NA NA PE2 17 +NX_Q8N4B5 295 30926 11.09 0 NA NA PE1 6 +NX_Q8N4C0 152 16682 10.45 0 NA NA PE2 9 +NX_Q8N4C6 2090 243249 4.99 0 Centrosome;Nucleolus;Nucleus;Centriole;Centrosome Seckel syndrome 7 PE1 14 +NX_Q8N4C7 294 34324 7.05 0 Membrane NA PE1 3 +NX_Q8N4C8 1332 149822 7.85 0 Golgi apparatus;Dendrite;Cytoplasm;Postsynaptic density;Axon NA PE1 17 +NX_Q8N4C9 275 30555 9.62 1 Membrane NA PE2 17 +NX_Q8N4E4 241 28071 4.79 0 NA NA PE1 4 +NX_Q8N4E7 242 27538 6.79 0 Mitochondrion NA PE1 5 +NX_Q8N4F0 458 49172 8.82 0 Cytoplasmic vesicle;Secreted NA PE1 20 +NX_Q8N4F4 322 35933 5.39 6 Membrane NA PE2 11 +NX_Q8N4F7 328 38266 9.07 5 Membrane NA PE1 4 +NX_Q8N4G2 192 21588 8.93 0 Cytoplasmic vesicle NA PE1 3 +NX_Q8N4H0 392 45058 9.22 0 NA NA PE2 9 +NX_Q8N4H5 51 6035 9.69 1 Mitochondrion;Mitochondrion outer membrane NA PE1 9 +NX_Q8N4J0 409 47186 5.93 0 Cytosol;Nucleus NA PE1 9 +NX_Q8N4K4 120 12312 5.51 1 Membrane NA PE2 17 +NX_Q8N4L1 468 51278 8.31 2 Nucleolus;Membrane;Cytosol NA PE1 11 +NX_Q8N4L2 257 28081 9.07 2 Late endosome membrane;Lysosome membrane NA PE1 8 +NX_Q8N4L4 309 34773 8.07 1 Cytoplasm;Membrane NA PE1 17 +NX_Q8N4L8 307 34322 6.57 0 Cytosol;Cell membrane NA PE1 1 +NX_Q8N4M1 653 73783 7.92 8 Membrane NA PE1 1 +NX_Q8N4M7 172 19474 5.3 0 NA NA PE2 10 +NX_Q8N4N3 616 69896 5.85 0 Cytosol NA PE1 16 +NX_Q8N4N8 673 76254 8.89 0 Nucleus;Nucleolus;Cytoskeleton;Centrosome;Spindle;Kinetochore NA PE1 17 +NX_Q8N4P2 665 76099 5.12 0 Cilium NA PE1 2 +NX_Q8N4P3 179 20329 6.25 0 Cytosol;Nucleoplasm NA PE1 15 +NX_Q8N4P6 559 61825 9.3 0 NA NA PE1 1 +NX_Q8N4Q0 377 40140 8.38 0 Golgi apparatus;Nucleus;Cytoplasmic vesicle;Peroxisome NA PE1 18 +NX_Q8N4Q1 142 15996 4.23 0 Mitochondrion;Mitochondrion intermembrane space NA PE1 3 +NX_Q8N4S0 544 64002 4.91 0 Cytosol;Nucleus NA PE1 11 +NX_Q8N4S7 273 29126 9.26 6 Cytoplasmic vesicle;Membrane NA PE1 16 +NX_Q8N4S9 558 64168 7.21 6 Cell membrane;Cell junction;Tight junction Deafness, autosomal recessive, 49 PE1 5 +NX_Q8N4T0 437 51008 9.58 0 Extracellular matrix Epilepsy, familial temporal lobe, 5;Febrile seizures, familial, 11 PE1 8 +NX_Q8N4T4 335 38295 9.71 0 Cell membrane NA PE1 9 +NX_Q8N4T8 237 25301 9.4 0 Mitochondrion matrix NA PE1 4 +NX_Q8N4U5 519 58091 4.89 0 Nucleus speckle NA PE1 12 +NX_Q8N4V1 131 14686 9.2 2 Endoplasmic reticulum membrane;Early endosome membrane;Golgi apparatus membrane NA PE1 X +NX_Q8N4V2 548 60769 5.6 12 Synaptic vesicle membrane NA PE1 12 +NX_Q8N4W6 341 38086 9.39 7 Cytoplasmic vesicle;Membrane NA PE1 12 +NX_Q8N4W9 903 104825 9.59 0 Nucleus NA PE1 19 +NX_Q8N4X5 818 91300 5.22 0 Cell membrane;Cytosol;Cytoplasm NA PE1 10 +NX_Q8N4Y2 399 44956 5.28 0 Nucleus NA PE1 11 +NX_Q8N4Z0 105 11364 5.84 0 Membrane;Endoplasmic reticulum NA PE5 1 +NX_Q8N511 208 23130 9.09 2 Endoplasmic reticulum membrane;COPI-coated vesicle membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane Congenital disorder of glycosylation 2P PE1 17 +NX_Q8N531 539 58588 9.51 0 Nucleus NA PE1 8 +NX_Q8N535 108 12106 5.44 0 NA NA PE5 2 +NX_Q8N539 461 50744 6.02 1 Cell junction;Membrane NA PE1 9 +NX_Q8N543 542 63246 5.03 0 Cytosol;Nucleus;Nucleus;Cytoplasm NA PE1 16 +NX_Q8N554 614 67219 8.87 0 Nucleus;Cytosol;Nucleolus;Cell membrane;Nucleus;Kinetochore NA PE1 16 +NX_Q8N556 730 80725 8.87 0 Cytoskeleton;Focal adhesion;Cytosol;Cytoskeleton NA PE1 4 +NX_Q8N565 214 24927 5.53 0 Cytoplasmic vesicle;Apical cell membrane NA PE1 2 +NX_Q8N567 271 30477 9.33 0 Cytoskeleton;Nucleolus;Nucleus NA PE1 5 +NX_Q8N568 766 83606 8.63 0 Cytoskeleton NA PE1 4 +NX_Q8N573 874 97970 5.32 0 Cytoplasmic vesicle;Mitochondrion NA PE1 8 +NX_Q8N584 583 65870 6.59 0 Nucleoplasm NA PE1 18 +NX_Q8N587 486 55197 9.09 0 Nucleus NA PE1 19 +NX_Q8N594 471 50662 5.49 0 Nucleus;Nucleolus NA PE1 19 +NX_Q8N5A5 531 57359 5.3 0 Nucleus;Cell membrane;Nucleus NA PE1 20 +NX_Q8N5B7 392 45752 8.21 6 Nucleus;Nucleolus;Endoplasmic reticulum membrane;Nucleus membrane NA PE1 12 +NX_Q8N5C1 309 35170 8.49 4 Golgi apparatus;Membrane NA PE1 6 +NX_Q8N5C6 995 111776 8.94 0 Mitochondrion;Cytosol NA PE1 2 +NX_Q8N5C7 304 35248 8.65 0 Cytoplasmic vesicle;Nucleus;Nucleolus NA PE1 15 +NX_Q8N5C8 712 78683 8.73 0 Cytosol;Nucleus speckle NA PE1 X +NX_Q8N5D0 677 75920 6.85 0 Golgi apparatus;Cytoplasmic vesicle NA PE1 1 +NX_Q8N5D6 347 40127 8.68 1 Golgi apparatus membrane NA PE2 9 +NX_Q8N5F7 415 47138 10.12 0 Nucleoplasm;Cytosol;Nucleus NA PE1 X +NX_Q8N5G0 67 7702 9.86 1 Nucleus;Cytosol;Mitochondrion inner membrane;Nucleolus NA PE1 4 +NX_Q8N5G2 664 76178 9.17 4 Nucleus membrane;Cytosol;Axon NA PE1 1 +NX_Q8N5H3 189 20147 5.1 0 Cytoplasm;Lamellipodium NA PE1 11 +NX_Q8N5H7 860 94411 8.2 0 Cytoplasm;Membrane NA PE1 9 +NX_Q8N5I2 433 45981 6.53 0 Cell membrane;Nucleus;Nucleolus NA PE1 9 +NX_Q8N5I3 272 31048 6.91 0 Cytoplasmic vesicle;Endoplasmic reticulum NA PE1 13 +NX_Q8N5I4 330 36443 9.1 0 Cytosol;Cytoskeleton;Secreted NA PE1 X +NX_Q8N5I9 185 20123 5.1 0 Nucleus;Nucleus membrane;Nucleoplasm NA PE1 12 +NX_Q8N5J2 469 51778 4.75 0 Nucleoplasm NA PE1 1 +NX_Q8N5J4 248 29180 9.02 0 Nucleus NA PE2 12 +NX_Q8N5K1 135 15278 9.66 1 Mitochondrion outer membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum Wolfram syndrome 2 PE1 4 +NX_Q8N5L8 163 17631 10.32 0 Nucleus;Nucleus NA PE1 9 +NX_Q8N5M1 289 32772 6.62 0 Cytosol;Mitochondrion Mitochondrial complex V deficiency, nuclear 1 PE1 17 +NX_Q8N5M4 171 20013 9.02 0 Cytoplasm;Nucleoplasm NA PE1 11 +NX_Q8N5M9 183 21125 9.72 4 Cytoplasm;Endoplasmic reticulum;Nucleus;Endoplasmic reticulum membrane;Cytoplasmic vesicle Neutropenia, severe congenital 6, autosomal recessive PE1 3 +NX_Q8N5N4 141 15686 9.89 0 NA NA PE2 3 +NX_Q8N5N7 158 18325 7.73 0 Mitochondrion NA PE1 9 +NX_Q8N5P1 291 33576 8.55 0 Nucleoplasm;Nucleus;Nucleus NA PE1 2 +NX_Q8N5Q1 922 99915 9.45 0 NA NA PE1 19 +NX_Q8N5R6 958 107216 6.32 0 NA NA PE1 15 +NX_Q8N5S1 370 40795 9.35 6 Mitochondrion inner membrane NA PE1 19 +NX_Q8N5S3 287 32142 9.07 0 NA NA PE1 2 +NX_Q8N5S9 505 55735 5.55 0 Cytosol;Cytoplasm;Nucleus NA PE1 17 +NX_Q8N5T2 526 60208 5.67 0 Nucleoplasm;Nucleus membrane NA PE1 4 +NX_Q8N5U0 333 36368 8.57 0 NA NA PE1 11 +NX_Q8N5U1 240 25050 5.63 4 Membrane NA PE2 11 +NX_Q8N5U6 811 89927 6.48 0 Nucleus;Cytoplasm;Nucleoplasm;Mitochondrion NA PE1 12 +NX_Q8N5V2 710 82496 5.42 0 Cytosol;Cytoplasm;Membrane;Growth cone;Cell membrane NA PE1 2 +NX_Q8N5W8 94 10147 6.68 0 Secreted NA PE1 10 +NX_Q8N5W9 214 22882 5.27 0 Cytoskeleton;Cell membrane;Cytoskeleton;Cytosol NA PE1 17 +NX_Q8N5X7 224 24441 5.98 0 Nucleolus NA PE1 3 +NX_Q8N5Y2 521 59824 8.4 0 Nucleus NA PE1 X +NX_Q8N5Y8 322 36383 9.17 1 Endoplasmic reticulum membrane NA PE1 15 +NX_Q8N5Z0 425 47352 6.47 0 Mitochondrion;Cytoplasmic vesicle;Cell membrane NA PE1 4 +NX_Q8N5Z5 321 35670 4.82 0 Cytoplasm Dystonia 26, myoclonic PE1 22 +NX_Q8N608 796 90888 6.11 1 Cytosol;Nucleus;Cytoplasmic vesicle;Cell membrane Asthma PE1 2 +NX_Q8N609 369 42162 9.38 8 Endoplasmic reticulum;Mitochondrion;Endoplasmic reticulum membrane NA PE1 4 +NX_Q8N612 972 105568 6.33 0 Nucleus;Cytoplasm;Mitochondrion NA PE1 11 +NX_Q8N614 296 34323 7.98 2 Membrane NA PE2 4 +NX_Q8N616 119 12924 6.53 0 NA NA PE5 16 +NX_Q8N628 320 35376 7.13 7 Cell membrane;Cell membrane NA PE2 1 +NX_Q8N635 442 49313 5.98 0 Chromosome;Nucleus;Nucleolus;Cytoplasm;Nucleus NA PE1 16 +NX_Q8N653 840 94719 6.12 0 Nucleus Schwannomatosis 2;Noonan syndrome 10 PE1 22 +NX_Q8N660 670 77563 4.63 0 Cytoplasm NA PE2 1 +NX_Q8N661 226 24352 6.15 7 Centrosome;Membrane;Cytoplasm;Midbody NA PE1 19 +NX_Q8N668 190 21178 5.85 0 Nucleus;Cytosol;Nucleoplasm;Cytoplasm;Endosome membrane;Cytoplasmic vesicle;Early endosome;Recycling endosome NA PE1 2 +NX_Q8N680 514 57337 5.71 0 Cytosol;Nucleus;Nucleoplasm NA PE1 6 +NX_Q8N682 238 26253 6.39 6 Lysosome membrane NA PE1 12 +NX_Q8N684 471 52050 7.82 0 Nucleus;Cytosol;Nucleoplasm NA PE1 11 +NX_Q8N687 156 17537 5.31 0 Secreted NA PE2 20 +NX_Q8N688 67 8105 9.77 0 Secreted NA PE2 20 +NX_Q8N690 84 9822 8.92 0 Secreted NA PE1 20 +NX_Q8N693 406 44297 5.19 0 Cytoplasm;Nucleus speckle;Nucleus NA PE1 X +NX_Q8N695 610 66578 7.9 13 Apical cell membrane NA PE1 12 +NX_Q8N697 577 62034 9.2 12 Membrane NA PE1 12 +NX_Q8N699 235 26593 9.88 0 Nucleus;Nucleoplasm NA PE1 6 +NX_Q8N6C5 1336 148936 5.63 2 Cytosol;Membrane;Secreted Hypothyroidism, central, and testicular enlargement PE1 X +NX_Q8N6C7 128 14321 10.38 0 NA NA PE5 19 +NX_Q8N6C8 439 47472 8.37 0 Secreted NA PE1 19 +NX_Q8N6D2 247 27402 5.82 2 Golgi apparatus;Cytoplasmic vesicle;Nucleus;Membrane;Cytoplasm NA PE1 6 +NX_Q8N6D5 301 32442 9.46 0 Nucleus;Nucleoplasm NA PE1 18 +NX_Q8N6F1 224 23229 8.49 4 Cell membrane;Tight junction Hypomagnesemia 5 PE1 1 +NX_Q8N6F7 178 21005 6.07 0 Cytoplasm;Cell membrane NA PE1 3 +NX_Q8N6F8 245 26522 5.74 0 Focal adhesion NA PE1 7 +NX_Q8N6G1 96 10504 9.35 0 NA NA PE5 1 +NX_Q8N6G2 289 33595 9.4 0 NA NA PE1 13 +NX_Q8N6G5 542 62572 5.5 1 Golgi stack membrane;Endoplasmic reticulum NA PE1 10 +NX_Q8N6G6 1762 193409 8.18 0 Extracellular matrix NA PE1 9 +NX_Q8N6H7 521 56720 8.08 0 Golgi apparatus;Golgi apparatus membrane;Cytoplasm NA PE1 11 +NX_Q8N6I1 236 25190 6.94 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q8N6I4 163 18747 8.38 2 Membrane;Golgi apparatus;Cell junction NA PE2 14 +NX_Q8N6K0 151 16649 4.99 1 Membrane NA PE1 13 +NX_Q8N6K4 173 17423 9.65 0 NA NA PE2 16 +NX_Q8N6K7 520 61237 6.67 0 NA NA PE1 6 +NX_Q8N6L0 562 62783 4.65 1 Telomere;Nucleus;Nucleus outer membrane NA PE1 19 +NX_Q8N6L1 136 14679 9.67 3 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 1 +NX_Q8N6L7 170 18703 4.88 2 Membrane NA PE2 9 +NX_Q8N6M0 293 33813 5.77 0 Cytosol;Golgi apparatus;Nucleoplasm NA PE1 8 +NX_Q8N6M3 262 29855 8.93 6 Endoplasmic reticulum membrane NA PE1 20 +NX_Q8N6M5 410 45750 5.8 0 NA NA PE2 2 +NX_Q8N6M6 819 93572 5.81 0 Cell junction;Cytoplasm NA PE1 9 +NX_Q8N6M8 205 23699 9.68 0 Acrosome NA PE1 3 +NX_Q8N6M9 145 16477 8.7 0 Cytoplasm;Nucleus;Cytoplasm NA PE1 7 +NX_Q8N6N2 239 25932 9.55 0 NA NA PE1 19 +NX_Q8N6N3 182 20599 5.14 0 Nucleus NA PE1 1 +NX_Q8N6N6 113 13032 8.84 0 NA NA PE1 17 +NX_Q8N6N7 88 9790 6.26 0 Cytoplasmic vesicle;Cytosol NA PE1 10 +NX_Q8N6P7 574 63077 5.81 1 Membrane NA PE1 1 +NX_Q8N6Q1 288 34174 5.83 1 Membrane NA PE1 15 +NX_Q8N6Q3 437 46363 5.87 0 Cell membrane NA PE1 19 +NX_Q8N6Q8 603 68213 6.69 0 Cell membrane;Mitochondrion;Cytosol NA PE1 12 +NX_Q8N6R0 699 78768 6.29 0 Cytosol NA PE1 1 +NX_Q8N6R1 65 7431 10.61 1 Membrane;Endoplasmic reticulum membrane NA PE1 13 +NX_Q8N6S4 541 60818 6.46 0 Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 1 +NX_Q8N6S5 226 24676 5.94 3 Membrane;Cytosol;Nucleus membrane NA PE1 2 +NX_Q8N6T0 577 64047 6.2 0 Chromosome;Centrosome NA PE2 11 +NX_Q8N6T3 406 44668 5.46 0 Cytoplasmic vesicle;Nucleus membrane;Cytoplasm;Golgi apparatus;Golgi apparatus NA PE1 20 +NX_Q8N6T7 355 39119 9.31 0 Nucleoplasm;Nucleoplasm NA PE1 19 +NX_Q8N6U2 182 18370 11.05 0 NA NA PE5 12 +NX_Q8N6U8 529 58559 8.56 7 Nucleolus;Nucleus;Cilium membrane;Cell membrane NA PE1 1 +NX_Q8N6V4 93 10399 5.02 0 NA NA PE1 10 +NX_Q8N6V9 391 44826 6.21 0 Cell membrane;Cytosol NA PE1 15 +NX_Q8N6W0 485 52355 8.57 0 Nucleus;Cytoplasm NA PE1 19 +NX_Q8N6Y0 703 76068 5.58 0 NA NA PE1 19 +NX_Q8N6Y1 951 104919 4.91 1 Cell membrane NA PE2 13 +NX_Q8N6Y2 441 51800 8.5 0 Cell membrane;Extracellular space;Nucleoplasm;Nucleus speckle NA PE1 7 +NX_Q8N715 623 72349 10.13 0 NA NA PE1 1 +NX_Q8N720 491 57407 6.7 0 Nucleus;Nucleoplasm;Cell membrane NA PE1 7 +NX_Q8N726 132 13903 12.41 0 Mitochondrion;Nucleoplasm;Nucleolus;Nucleolus NA PE1 9 +NX_Q8N729 165 18048 11.62 0 Secreted NA PE1 16 +NX_Q8N743 410 44928 7.27 1 Cell membrane NA PE2 19 +NX_Q8N752 337 39086 9.48 0 Cytoplasm NA PE1 13 +NX_Q8N755 202 22575 9.14 4 Cytosol;Membrane NA PE1 2 +NX_Q8N766 993 111759 7.38 1 Membrane;Cytoskeleton;Cytoskeleton Cerebellar atrophy, visual impairment, and psychomotor retardation PE1 1 +NX_Q8N769 122 13377 5.55 0 NA NA PE2 14 +NX_Q8N782 197 23070 8.98 0 Nucleus NA PE1 19 +NX_Q8N7A1 406 46720 5.67 0 Cytoplasm;Cytosol NA PE2 14 +NX_Q8N7B1 307 35284 6.86 0 Chromosome;Nucleus NA PE1 22 +NX_Q8N7B6 248 27152 9.71 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 4 +NX_Q8N7B9 438 50147 9.31 0 NA NA PE1 17 +NX_Q8N7C0 313 35126 5.44 1 Cell membrane NA PE1 1 +NX_Q8N7C3 387 43983 5.52 0 Cytosol;Cell membrane NA PE1 4 +NX_Q8N7C4 229 26582 9.33 4 Membrane NA PE2 6 +NX_Q8N7C7 305 34397 8.49 1 Membrane NA PE1 7 +NX_Q8N7E2 425 48785 9.57 0 Cytoplasm NA PE2 X +NX_Q8N7F7 174 19909 5.63 0 Mitochondrion;Cytoplasm;Cytoskeleton NA PE1 1 +NX_Q8N7G0 328 36051 10.11 0 Nucleus NA PE1 5 +NX_Q8N7H1 131 13435 11.32 0 NA NA PE2 12 +NX_Q8N7H5 531 59976 4.53 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8N7I0 195 21479 8.73 0 Mitochondrion NA PE2 9 +NX_Q8N7J2 671 69507 6.55 0 Cell membrane NA PE1 13 +NX_Q8N7K0 673 77243 9.38 0 Nucleus;Nucleus NA PE1 19 +NX_Q8N7L0 139 16362 11.54 0 NA NA PE2 13 +NX_Q8N7M0 179 20730 9.04 0 NA NA PE1 1 +NX_Q8N7M2 679 77942 8.62 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q8N7N1 296 32865 6 0 NA NA PE2 8 +NX_Q8N7P1 536 61312 8.93 1 Cytoplasmic vesicle;Mitochondrion;Cytosol;Membrane NA PE1 1 +NX_Q8N7P3 220 24509 5.7 4 Tight junction;Cell membrane NA PE2 4 +NX_Q8N7P7 452 48314 10.01 0 NA NA PE2 8 +NX_Q8N7Q2 184 20470 9.22 0 Secreted NA PE5 10 +NX_Q8N7Q3 588 67624 9.1 0 Nucleus NA PE2 19 +NX_Q8N7R0 232 26880 9.08 0 Nucleus NA PE5 12 +NX_Q8N7R1 296 31848 9.32 0 NA NA PE1 7 +NX_Q8N7R7 359 40705 5.7 0 Cell membrane NA PE1 2 +NX_Q8N7S2 189 21433 7.92 0 Membrane NA PE2 2 +NX_Q8N7S6 290 30424 11.74 1 Membrane NA PE2 3 +NX_Q8N7U6 833 93802 7.51 0 NA NA PE1 3 +NX_Q8N7U7 411 40603 10 0 Nucleus NA PE1 19 +NX_Q8N7U9 141 15976 5.8 0 NA NA PE5 17 +NX_Q8N7W2 519 57549 9.26 0 Nucleolus;Cytoplasmic vesicle;Nucleus NA PE1 10 +NX_Q8N7X0 1667 189713 8.49 0 Nucleoplasm;Mitochondrion NA PE1 6 +NX_Q8N7X1 1067 114938 9.19 0 NA NA PE1 X +NX_Q8N7X2 389 42877 10.01 0 Cytoplasmic vesicle NA PE1 9 +NX_Q8N7X4 407 43992 5.39 0 NA NA PE1 X +NX_Q8N7X8 197 21283 9.59 1 Membrane NA PE2 19 +NX_Q8N7Y1 241 25772 10.92 0 NA NA PE5 11 +NX_Q8N7Z2 621 77076 5.31 0 NA NA PE2 15 +NX_Q8N7Z5 1873 210816 5.82 0 NA NA PE5 5 +NX_Q8N801 248 27807 9.61 0 Nucleus;Cytoplasm;Cytosol;Nucleoplasm NA PE1 2 +NX_Q8N806 425 47999 4.7 0 Nucleus NA PE1 14 +NX_Q8N807 584 66657 6.41 0 Endoplasmic reticulum NA PE1 16 +NX_Q8N808 338 35381 6.63 9 Membrane NA PE2 17 +NX_Q8N812 135 14959 6.63 0 Cytoskeleton;Cell membrane NA PE2 12 +NX_Q8N813 242 26007 8.48 0 NA NA PE2 3 +NX_Q8N814 137 14437 5.26 0 NA NA PE5 7 +NX_Q8N815 330 36921 6.46 0 Focal adhesion;Nucleoplasm;Cell membrane NA PE2 17 +NX_Q8N816 258 27975 6.33 3 Cytosol;Membrane NA PE2 17 +NX_Q8N819 430 46170 6.21 0 Cytoplasmic vesicle NA PE2 19 +NX_Q8N823 705 81449 9.16 0 Nucleus NA PE1 19 +NX_Q8N831 410 45874 5.45 0 Nucleolus;Centrosome;Cytosol NA PE1 2 +NX_Q8N841 843 96401 9.03 0 Cilium;Cilium basal body;Cytoplasmic vesicle;Cytoskeleton NA PE1 17 +NX_Q8N859 430 50172 6.51 0 Nucleolus;Nucleus NA PE1 7 +NX_Q8N865 590 68464 6.9 0 Nucleoplasm;Mitochondrion;Centrosome NA PE1 7 +NX_Q8N878 549 62523 8.52 0 Cytoskeleton NA PE2 6 +NX_Q8N883 585 67215 9.25 0 Cytoplasmic vesicle;Nucleoplasm;Cytosol;Nucleus NA PE1 19 +NX_Q8N884 522 58814 9.54 0 Cytosol;Microtubule organizing center;Cytosol NA PE1 6 +NX_Q8N888 145 16258 9.12 0 NA NA PE5 Y +NX_Q8N895 744 85107 8.88 0 Nucleus NA PE1 5 +NX_Q8N8A2 993 107603 5.85 0 Nucleus speckle;Mitochondrion NA PE1 2 +NX_Q8N8A6 666 72457 8.43 0 Nucleolus;Nucleolus;Cytosol;Nucleus NA PE1 12 +NX_Q8N8A8 192 21411 5.58 0 NA NA PE2 15 +NX_Q8N8B7 351 40245 8.86 0 NA NA PE1 X +NX_Q8N8C0 355 41526 10.4 0 Nucleus;Nucleoplasm NA PE2 19 +NX_Q8N8D1 485 54700 9.97 0 Nucleolus;Cell membrane;Nucleus NA PE1 15 +NX_Q8N8D7 197 22620 5.41 4 Cell membrane NA PE2 8 +NX_Q8N8D9 126 14652 6.77 0 Mitochondrion NA PE2 5 +NX_Q8N8E1 139 13175 11.41 0 NA NA PE5 12 +NX_Q8N8E2 541 57882 7.49 0 Nucleus Retinitis pigmentosa 58 PE1 2 +NX_Q8N8E3 955 112749 6.25 0 Nucleoplasm;Golgi apparatus;Centrosome NA PE1 17 +NX_Q8N8F6 280 30632 4.76 5 Endoplasmic reticulum membrane;cis-Golgi network membrane;trans-Golgi network membrane NA PE1 4 +NX_Q8N8F7 131 14462 5.22 1 Membrane;Cytosol NA PE1 7 +NX_Q8N8G2 317 33426 6.33 0 Nucleus NA PE1 6 +NX_Q8N8G6 183 21040 9.87 0 NA NA PE2 15 +NX_Q8N8H1 164 18964 6.49 0 Nucleoplasm NA PE5 19 +NX_Q8N8I0 201 22907 9.4 0 Cytosol;Golgi apparatus NA PE1 8 +NX_Q8N8I6 264 28326 11.2 0 NA NA PE5 17 +NX_Q8N8J0 262 29179 6.83 0 NA NA PE5 22 +NX_Q8N8J6 731 83739 9.35 0 Nucleolus;Nucleus;Mitochondrion NA PE1 19 +NX_Q8N8J7 132 14653 4.6 1 Golgi apparatus;Membrane NA PE1 4 +NX_Q8N8K9 716 79212 6.38 0 Cytosol;Cell membrane NA PE1 9 +NX_Q8N8L2 437 50950 9.45 0 Nucleus NA PE1 19 +NX_Q8N8L6 244 27459 4.58 0 NA NA PE1 5 +NX_Q8N8M0 369 40521 6.49 0 Nucleus NA PE2 7 +NX_Q8N8N0 203 22357 8.2 1 Lysosome membrane NA PE1 18 +NX_Q8N8N7 351 38499 5.27 0 Cytoplasmic vesicle;Cytoplasm NA PE1 14 +NX_Q8N8P6 123 13896 9.36 0 NA NA PE2 X +NX_Q8N8P7 122 13691 5.58 0 Secreted NA PE2 11 +NX_Q8N8Q1 229 25424 10.02 6 Membrane NA PE2 1 +NX_Q8N8Q3 282 30792 8.34 0 Cytoplasm;Nucleolus NA PE1 17 +NX_Q8N8Q8 333 37063 9.86 3 Mitochondrion inner membrane NA PE1 4 +NX_Q8N8Q9 360 39185 8.46 9 Golgi apparatus;Early endosome;Cell membrane NA PE1 15 +NX_Q8N8R3 303 32062 9.03 6 Mitochondrion inner membrane NA PE1 14 +NX_Q8N8R5 385 43448 8.31 0 Secreted NA PE1 2 +NX_Q8N8R7 260 29338 8.42 0 Cytosol;Cytoplasmic vesicle;Nucleus;Cytoplasm;Focal adhesion NA PE1 11 +NX_Q8N8S7 591 66510 6.51 0 Cytoplasm;Cytoskeleton;Cytosol;Focal adhesion;Filopodium;Focal adhesion;Synapse;Cell membrane;Lamellipodium NA PE1 1 +NX_Q8N8U2 506 56500 8.99 0 Nucleus NA PE1 16 +NX_Q8N8U3 475 52817 4.43 0 Nucleoplasm;Cell membrane;Golgi apparatus;Nucleus NA PE2 X +NX_Q8N8U9 685 75997 8.18 0 Secreted Diaphanospondylodysostosis PE1 7 +NX_Q8N8V2 638 72513 5.72 0 Membrane NA PE1 1 +NX_Q8N8V4 417 46597 4.99 0 Cytosol;Microvillus;Nucleoplasm NA PE1 16 +NX_Q8N8V8 129 13990 11.62 2 Membrane NA PE2 17 +NX_Q8N8W4 532 57875 8.35 0 Cytoskeleton;Cytoplasm Ichthyosis, congenital, autosomal recessive 10 PE1 6 +NX_Q8N8X9 362 42357 8.84 0 Nucleoplasm NA PE1 1 +NX_Q8N8Y2 350 40426 5.18 0 Cytoplasmic vesicle NA PE1 8 +NX_Q8N8Y5 198 22806 9.46 0 Nucleus;Nucleus;Nucleolus;Cell membrane NA PE2 8 +NX_Q8N8Z3 221 24207 11.22 0 NA NA PE2 10 +NX_Q8N8Z6 715 77920 8.26 1 Cytosol;Membrane NA PE1 6 +NX_Q8N8Z8 693 80136 8.82 0 Nucleus;Nucleus speckle NA PE1 19 +NX_Q8N907 189 20180 9.89 0 Secreted NA PE2 19 +NX_Q8N910 161 17040 11.89 0 NA NA PE2 15 +NX_Q8N912 160 18051 11.21 1 Cell membrane NA PE1 14 +NX_Q8N944 861 90445 5.48 0 Cytosol;Nucleoplasm;Cell membrane;Nucleus NA PE1 2 +NX_Q8N945 189 21905 8.98 0 Nucleoplasm NA PE2 5 +NX_Q8N954 259 30199 5.19 0 Kinetochore;Nucleus NA PE1 2 +NX_Q8N957 763 87604 8.69 0 NA NA PE2 17 +NX_Q8N960 986 112640 5.9 0 Cytosol;Centrosome;Cytoskeleton Short-rib thoracic dysplasia 13 with or without polydactyly PE1 5 +NX_Q8N961 1025 113656 5.87 0 Nucleus NA PE1 11 +NX_Q8N966 263 29100 9.5 2 Cell membrane;Membrane NA PE1 14 +NX_Q8N967 370 41158 8.17 1 Membrane NA PE1 12 +NX_Q8N972 641 74652 9.22 0 Nucleus NA PE1 19 +NX_Q8N976 141 14881 6.53 0 NA NA PE5 7 +NX_Q8N983 215 23431 8.97 0 Nucleoplasm;Mitochondrion;Mitochondrion NA PE1 10 +NX_Q8N987 351 40571 4.83 0 Cytosol;Nucleoplasm;Cytoplasm NA PE1 8 +NX_Q8N988 423 48627 9.22 0 Cytosol;Nucleus;Cytoskeleton;Nucleus NA PE1 19 +NX_Q8N998 374 43809 5.33 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 11 +NX_Q8N999 325 37490 6.6 0 Cytoplasm;Cytoplasmic vesicle NA PE1 12 +NX_Q8N9A8 125 14267 8.71 2 Cytosol;Nucleus membrane;Cytoplasm NA PE1 16 +NX_Q8N9B4 389 43052 6.01 0 Nucleoplasm;Cell membrane;Cytosol NA PE1 11 +NX_Q8N9B5 988 111445 5.88 0 Nucleus;Cytoskeleton;Nucleoplasm NA PE1 5 +NX_Q8N9B8 481 54556 7.6 0 Golgi apparatus NA PE2 10 +NX_Q8N9C0 903 100400 6.7 0 NA NA PE2 11 +NX_Q8N9E0 248 28941 10.1 0 NA NA PE1 X +NX_Q8N9F0 302 32837 9.05 1 Cytoplasm;Mitochondrion;Membrane;Microsome membrane;Mitochondrion membrane;Rough endoplasmic reticulum membrane N-acetylaspartate deficiency PE1 4 +NX_Q8N9F7 314 36167 8.66 2 Membrane;Perinuclear region;Cytoplasm NA PE1 17 +NX_Q8N9F8 522 60008 8.96 0 Nucleus NA PE2 5 +NX_Q8N9G6 341 37462 10.42 0 NA NA PE2 10 +NX_Q8N9H6 132 14527 9.23 0 NA NA PE2 8 +NX_Q8N9H8 876 96598 8.6 0 Focal adhesion;Cytoskeleton NA PE1 9 +NX_Q8N9H9 656 69787 5.32 0 NA NA PE2 1 +NX_Q8N9I0 419 46872 8.18 1 Synaptic vesicle membrane;Chromaffin granule membrane;Cytoplasmic vesicle Myasthenic syndrome, congenital, 7, presynaptic PE1 1 +NX_Q8N9I5 356 40447 8.13 6 Membrane NA PE1 17 +NX_Q8N9I9 347 37988 9.02 0 Nucleolus;Cytoplasm;Golgi apparatus;Nucleus NA PE1 12 +NX_Q8N9K5 539 62445 8.58 0 Nucleoplasm;Nucleus;Nucleus NA PE1 19 +NX_Q8N9K7 121 13671 10.94 0 NA NA PE2 8 +NX_Q8N9L1 334 36567 9.61 0 Cytosol;Nucleus;Nucleus NA PE2 3 +NX_Q8N9L7 120 13535 9.8 0 NA NA PE5 22 +NX_Q8N9L9 421 46327 8.31 0 Peroxisome NA PE1 14 +NX_Q8N9M1 422 44746 10.12 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q8N9M5 508 54175 5.59 1 Cell membrane NA PE1 17 +NX_Q8N9N2 400 45509 5.36 0 Nucleus;Nucleoplasm;Cytosol Spinal muscular atrophy with congenital bone fractures 2;Barrett esophagus PE1 10 +NX_Q8N9N5 519 56494 5.27 0 Nucleus;Nucleus;Nucleoplasm NA PE1 16 +NX_Q8N9N7 239 26754 8.7 0 Cytosol;Membrane;Mitochondrion NA PE1 15 +NX_Q8N9N8 165 19053 5.14 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 11 +NX_Q8N9P0 234 25159 11.75 0 NA NA PE5 6 +NX_Q8N9P6 203 22154 11.66 0 NA NA PE2 9 +NX_Q8N9Q2 155 18177 9.86 0 Nucleolus;Nucleus NA PE1 5 +NX_Q8N9R0 145 15610 11.42 0 NA NA PE5 16 +NX_Q8N9R6 151 17514 10.05 0 Mitochondrion NA PE2 17 +NX_Q8N9R8 606 70399 8.78 1 Nucleus membrane;Nucleus;Membrane;Nucleus;Cytoplasm NA PE1 9 +NX_Q8N9S9 440 50802 6.62 0 Nucleoplasm;Golgi apparatus;Cytosol NA PE1 8 +NX_Q8N9T2 125 14163 9.29 0 NA NA PE5 X +NX_Q8N9T8 703 82598 5.06 0 Nucleolus NA PE1 19 +NX_Q8N9U0 490 55284 9.29 0 Nucleus;Nucleus;Nucleoplasm NA PE1 14 +NX_Q8N9U9 137 13254 12.18 0 NA NA PE5 X +NX_Q8N9V2 468 53002 5.36 0 NA NA PE1 4 +NX_Q8N9V3 476 52817 5.93 0 Nucleolus;Cytosol;Nucleus NA PE1 2 +NX_Q8N9V6 530 59571 9.58 0 Spindle pole;Spindle NA PE1 2 +NX_Q8N9V7 1692 190927 8.16 0 Cytosol NA PE2 3 +NX_Q8N9W4 650 79343 5.49 0 NA NA PE1 15 +NX_Q8N9W5 541 59411 5.6 0 Cytoplasm;Nucleus;Mitochondrion Ciliary dyskinesia, primary, 2 PE1 19 +NX_Q8N9W6 283 31301 6.59 0 Cytoplasm NA PE1 2 +NX_Q8N9W7 124 13731 8.96 1 Membrane NA PE5 15 +NX_Q8N9W8 422 47076 5.6 0 NA NA PE1 14 +NX_Q8N9X3 169 18887 11.31 0 NA NA PE5 1 +NX_Q8N9X5 138 15361 8.88 2 Cell membrane;Cytoplasm;Membrane NA PE2 8 +NX_Q8N9Y4 354 38724 9.75 0 NA NA PE2 14 +NX_Q8N9Z0 462 53489 9.36 0 Nucleus NA PE1 19 +NX_Q8N9Z2 235 26261 11.71 0 Cytoskeleton;Cytosol;Golgi apparatus NA PE1 7 +NX_Q8N9Z9 388 43408 9.18 0 Centrosome;Nucleoplasm NA PE1 12 +NX_Q8NA03 581 66121 5.08 0 Nucleoplasm NA PE1 15 +NX_Q8NA19 623 71122 7.11 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA PE1 18 +NX_Q8NA23 367 40840 8.65 0 Cytosol;Nucleus NA PE1 9 +NX_Q8NA29 543 60170 6.51 11 Endoplasmic reticulum membrane;Cell membrane;Cell membrane;Cytosol;Cytosol Microcephaly 15, primary, autosomal recessive PE1 1 +NX_Q8NA31 727 83064 7.29 0 Telomere;Nucleus inner membrane NA PE1 16 +NX_Q8NA42 475 54613 8.21 0 Nucleus;Nucleus membrane;Nucleus;Cytoplasm NA PE1 19 +NX_Q8NA47 563 66250 9.08 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 12 +NX_Q8NA54 791 92581 6.21 0 NA NA PE1 7 +NX_Q8NA56 475 55082 5.5 0 NA NA PE1 4 +NX_Q8NA57 414 47326 8.79 0 NA NA PE1 12 +NX_Q8NA58 520 60124 8.82 1 Endoplasmic reticulum membrane NA PE1 6 +NX_Q8NA61 448 51570 6.7 0 Cell membrane;Cell junction NA PE1 13 +NX_Q8NA66 436 50224 9.15 0 NA NA PE2 8 +NX_Q8NA69 505 57331 9.04 0 NA NA PE1 19 +NX_Q8NA70 645 73945 8.96 0 NA NA PE2 X +NX_Q8NA72 575 63351 6.97 0 Centriole;Nucleus NA PE1 5 +NX_Q8NA75 395 43747 8.85 0 NA NA PE1 8 +NX_Q8NA77 164 18469 3.85 0 Cytoplasm NA PE1 17 +NX_Q8NA82 808 90511 6.26 0 Cell membrane;Cytosol NA PE1 17 +NX_Q8NA92 274 30082 10.24 0 Nucleoplasm NA PE1 19 +NX_Q8NA96 180 19635 8.97 0 NA NA PE5 5 +NX_Q8NA97 138 15156 8.17 0 NA NA PE2 8 +NX_Q8NAA4 619 68998 9.2 0 Cytoplasm;Nucleoplasm NA PE1 11 +NX_Q8NAA5 344 37780 8.66 0 NA NA PE1 17 +NX_Q8NAA6 179 19737 9.93 0 NA NA PE2 15 +NX_Q8NAB2 608 69395 5.22 0 NA NA PE1 11 +NX_Q8NAC3 791 86240 5.73 1 Cell membrane;Centrosome;Cytoskeleton Candidiasis, familial, 9 PE1 3 +NX_Q8NAE3 123 13125 6.11 0 NA NA PE1 1 +NX_Q8NAF0 562 60509 9.07 0 Nucleus;Nucleus NA PE1 19 +NX_Q8NAG6 615 66890 5.98 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 19 +NX_Q8NAJ2 232 25113 8.89 0 NA NA PE2 9 +NX_Q8NAM6 433 48957 6.47 0 Nucleus;Telomere NA PE1 19 +NX_Q8NAN2 632 71006 5.42 1 Mitochondrion;Mitochondrion outer membrane NA PE1 1 +NX_Q8NAP1 163 17846 8.78 0 NA NA PE5 7 +NX_Q8NAP3 1195 134257 8.34 0 Nucleoplasm;Nucleus;Chromosome NA PE1 3 +NX_Q8NAP8 495 54175 4.98 0 Nucleus NA PE1 1 +NX_Q8NAQ8 132 14168 11.48 0 NA NA PE2 16 +NX_Q8NAS9 161 17397 4.87 0 NA NA PE2 5 +NX_Q8NAT1 580 66615 8.81 1 Endoplasmic reticulum membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8 PE1 3 +NX_Q8NAT2 981 109737 8.31 0 Cytoplasm NA PE1 1 +NX_Q8NAU1 212 23659 6.91 1 Cell membrane;Peroxisome membrane;Secreted NA PE1 1 +NX_Q8NAV1 312 37477 9.97 0 Nucleus;Nucleus NA PE1 1 +NX_Q8NAV2 365 39661 8.52 0 Nucleus NA PE2 8 +NX_Q8NAX2 398 43642 6.1 0 Nucleoplasm;Cytoplasm;Spindle;Cell junction;Cell junction Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type PE1 1 +NX_Q8NB12 490 56617 6.66 0 Cytoplasm;Nucleus NA PE1 2 +NX_Q8NB14 1042 116546 5.82 0 Nucleoplasm;Cytosol NA PE1 4 +NX_Q8NB15 262 29428 6.31 0 Nucleus NA PE1 10 +NX_Q8NB16 471 54479 9 0 Cytoplasm;Cell membrane NA PE1 16 +NX_Q8NB25 1140 132965 5.59 0 Golgi apparatus;Cytosol;Nucleoplasm NA PE1 6 +NX_Q8NB37 220 23298 6.14 0 Secreted;Nucleoplasm NA PE1 11 +NX_Q8NB42 609 70902 8.35 0 Golgi apparatus;Nucleus speckle;Nucleus NA PE1 19 +NX_Q8NB46 1076 115077 6.01 0 Nucleoplasm;Mitochondrion NA PE1 12 +NX_Q8NB49 1132 129477 6.25 10 Cell membrane;Endoplasmic reticulum membrane NA PE1 X +NX_Q8NB50 900 102511 9.24 0 Cytoskeleton;Nucleoplasm;Nucleus NA PE1 5 +NX_Q8NB59 555 62287 6.02 1 Membrane;Cytoplasmic vesicle Spinocerebellar ataxia, autosomal recessive, 11 PE1 1 +NX_Q8NB66 2214 250911 5.64 0 Cytoplasm;Presynaptic cell membrane;Membrane NA PE1 15 +NX_Q8NB78 822 92098 8.13 0 Nucleus;Nucleus NA PE1 6 +NX_Q8NB90 893 97904 5.5 0 Cytosol;Mitochondrion;Cytoplasm Epilepsy, hearing loss, and mental retardation syndrome PE1 4 +NX_Q8NB91 859 97726 7.79 0 Nucleus Fanconi anemia complementation group B PE1 X +NX_Q8NBA8 298 33416 8.95 0 Nucleus NA PE1 5 +NX_Q8NBB2 130 13907 11.83 0 NA NA PE2 15 +NX_Q8NBB4 408 45286 8.85 0 Nucleus;Nucleolus NA PE1 19 +NX_Q8NBC4 194 21159 11.74 0 Cytoplasm NA PE2 20 +NX_Q8NBD8 167 19531 5.68 4 Membrane NA PE2 14 +NX_Q8NBE8 558 63923 5.4 0 Nucleoplasm;Cytoskeleton NA PE1 2 +NX_Q8NBF1 620 65976 7.56 0 Nucleus NA PE1 1 +NX_Q8NBF2 726 79444 5.33 0 Nucleoplasm NA PE1 10 +NX_Q8NBF4 154 16182 11.26 0 NA NA PE5 7 +NX_Q8NBF6 648 71947 5.79 1 Endoplasmic reticulum;Recycling endosome;Membrane NA PE1 7 +NX_Q8NBH2 561 63855 7.1 0 Cytoskeleton;Z line;Nucleoplasm Myopathy, myofibrillar, 7 PE1 3 +NX_Q8NBI2 242 27214 9.64 6 Lysosome membrane;Late endosome membrane NA PE1 11 +NX_Q8NBI3 349 38650 7.62 0 Secreted NA PE1 1 +NX_Q8NBI5 491 54529 8.81 12 Membrane NA PE1 11 +NX_Q8NBI6 393 43807 8.35 1 Endoplasmic reticulum membrane NA PE1 3 +NX_Q8NBJ4 401 45333 4.91 1 cis-Golgi network membrane;Golgi apparatus NA PE1 9 +NX_Q8NBJ5 622 71636 6.85 0 Endoplasmic reticulum lumen;Cytoplasmic vesicle NA PE1 19 +NX_Q8NBJ7 301 33843 7.78 0 Endoplasmic reticulum lumen;Cytoplasmic vesicle;Cell membrane NA PE1 7 +NX_Q8NBJ9 832 94454 6.55 10 Lysosome membrane;Cell membrane NA PE1 11 +NX_Q8NBK3 374 40556 6.18 0 Endoplasmic reticulum lumen Multiple sulfatase deficiency PE1 3 +NX_Q8NBL1 392 46189 8.91 0 Endoplasmic reticulum lumen Dowling-Degos disease 4;Limb-girdle muscular dystrophy 2Z PE1 3 +NX_Q8NBL3 297 33019 8.83 3 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nucleus NA PE2 2 +NX_Q8NBM4 344 38964 9.21 3 Endoplasmic reticulum membrane;Cytosol NA PE1 13 +NX_Q8NBM8 494 54646 6.81 0 Nucleoplasm;Mitochondrion;Secreted NA PE1 5 +NX_Q8NBN3 555 63430 6.32 7 Golgi apparatus membrane;Golgi apparatus NA PE1 15 +NX_Q8NBN7 331 35932 8.23 0 Mitochondrion;Cytosol NA PE1 19 +NX_Q8NBP0 860 96813 6.56 0 Nucleoplasm NA PE1 1 +NX_Q8NBP5 474 50619 9.28 9 Membrane;Nucleolus NA PE1 2 +NX_Q8NBP7 692 74286 6.14 0 Cell surface;Lysosome;Endosome;Secreted;Endoplasmic reticulum;Cytoplasm;Golgi apparatus Hypercholesterolemia, autosomal dominant, 3 PE1 1 +NX_Q8NBQ5 300 32936 9.2 0 Lipid droplet;Secreted NA PE1 4 +NX_Q8NBQ7 271 30203 8.08 6 Cytoplasmic vesicle;Membrane;Nucleoplasm NA PE1 11 +NX_Q8NBR0 393 42238 10.97 1 Cell membrane;Cytoplasm NA PE1 17 +NX_Q8NBR6 621 67106 4.44 0 Nucleoplasm NA PE1 15 +NX_Q8NBR9 251 27887 9.56 0 NA NA PE2 11 +NX_Q8NBS3 891 99581 7.59 11 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Membrane Corneal dystrophy and perceptive deafness;Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy PE1 20 +NX_Q8NBS9 432 47629 5.63 0 Endoplasmic reticulum lumen;Endoplasmic reticulum NA PE1 6 +NX_Q8NBT0 407 45009 7.31 0 Centriole;Cilium basal body;Spindle pole Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis PE1 3 +NX_Q8NBT2 197 22478 4.65 0 Nucleolus;Nucleus;Kinetochore;Nucleus NA PE1 19 +NX_Q8NBT3 493 55534 8.88 8 Cytoplasmic vesicle;Membrane NA PE2 19 +NX_Q8NBU5 361 40744 6.43 0 Cytoplasm;Postsynaptic cell membrane;Mitochondrion;Peroxisome;Nucleolus;Nucleus NA PE1 10 +NX_Q8NBV4 271 29448 9.98 4 Nucleus;Cytoplasmic vesicle;Nucleus envelope;Endoplasmic reticulum membrane;Membrane NA PE1 9 +NX_Q8NBV8 401 44138 9.65 1 Nucleoplasm;Cell membrane;Acrosome;Cell junction NA PE2 11 +NX_Q8NBW4 561 63776 7.59 11 Lysosome membrane;Late endosome membrane;Cytoplasmic vesicle;Nucleoplasm NA PE1 5 +NX_Q8NBX0 429 47151 9.24 0 Cytoplasmic vesicle NA PE1 1 +NX_Q8NBZ0 244 26478 8.41 0 Nucleus;Nucleoplasm;Nucleolus NA PE1 16 +NX_Q8NBZ7 420 47577 8.99 1 Golgi stack membrane NA PE1 2 +NX_Q8NBZ9 246 25156 10.69 0 NA NA PE5 1 +NX_Q8NC01 280 31952 5.93 1 Membrane NA PE2 12 +NX_Q8NC06 268 30308 6.83 0 Nucleus;Cytoplasmic vesicle NA PE1 17 +NX_Q8NC24 303 32405 6.42 1 Cytoplasmic vesicle;Cell membrane NA PE1 5 +NX_Q8NC26 417 47747 8.9 0 Nucleus;Cytosol;Nucleus NA PE1 19 +NX_Q8NC38 126 14381 9.35 0 NA NA PE2 1 +NX_Q8NC42 400 43165 6.08 1 Membrane;Cell membrane;Cytoplasmic vesicle NA PE1 2 +NX_Q8NC44 543 57830 4.39 3 Cytosol;Membrane NA PE1 2 +NX_Q8NC51 408 44965 8.66 0 Nucleus;Cytoplasm;Perinuclear region;Cytosol;Cytoplasm NA PE1 1 +NX_Q8NC54 265 29235 4.93 1 Golgi apparatus;Membrane NA PE1 5 +NX_Q8NC56 503 56975 9.16 2 Nucleus inner membrane;Nucleus membrane Cataract 46, juvenile-onset PE1 6 +NX_Q8NC60 698 78458 8.87 0 Mitochondrion;Mitochondrion inner membrane NA PE1 4 +NX_Q8NC67 525 59393 6.38 1 Membrane;Golgi apparatus NA PE1 16 +NX_Q8NC69 237 27610 5.61 0 Nucleolus;Mitochondrion;M line NA PE1 3 +NX_Q8NC74 664 71432 6.08 0 NA NA PE1 20 +NX_Q8NC96 275 29737 6.33 0 Clathrin-coated vesicle membrane;Cytoplasmic vesicle;Cell membrane;Cytosol Epileptic encephalopathy, early infantile, 21 PE1 12 +NX_Q8NCA5 519 55401 9.15 0 Cytoplasmic vesicle NA PE1 2 +NX_Q8NCA9 323 34237 7.95 0 Nucleus;Nucleus NA PE1 19 +NX_Q8NCB2 501 54354 5.38 0 Nucleus;Cytoplasm;Cell membrane;Nucleoplasm;Cytoplasmic vesicle membrane;Cytoskeleton NA PE1 3 +NX_Q8NCC3 412 46658 6.26 0 Mitochondrion;Lysosome;Secreted;Membrane;Nucleoplasm;Cytoplasmic vesicle NA PE1 16 +NX_Q8NCC5 494 54486 5.46 12 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cytosol NA PE1 7 +NX_Q8NCD3 748 83539 9.4 0 Cytosol;Nucleolus;Nucleus;Nucleolus;Centromere NA PE1 2 +NX_Q8NCE0 465 53247 7.95 0 Nucleus;Nucleoplasm;Nucleolus;Cytosol Pontocerebellar hypoplasia 2B PE1 3 +NX_Q8NCE2 650 72203 5.85 0 Cytoplasm;Cytoplasm Myopathy, centronuclear, 1 PE1 3 +NX_Q8NCF0 446 49585 8.54 0 Secreted;Endoplasmic reticulum;Golgi apparatus;Endosome NA PE2 16 +NX_Q8NCF5 419 45817 6.19 0 Nucleus;Cytoplasm;Nucleus NA PE1 16 +NX_Q8NCG5 386 45134 9.11 1 Golgi apparatus membrane NA PE1 16 +NX_Q8NCG7 672 73732 6.09 4 Cell membrane;Cell membrane NA PE1 7 +NX_Q8NCH0 376 42997 9.55 1 Cytoplasmic vesicle;Golgi apparatus membrane Ehlers-Danlos syndrome, musculocontractural type 1 PE1 15 +NX_Q8NCI6 653 74823 9.05 0 NA NA PE1 11 +NX_Q8NCJ5 442 49694 5.78 0 Cytosol;Nucleoplasm;Cytoskeleton NA PE1 12 +NX_Q8NCK3 441 50280 9.68 0 Nucleus NA PE1 10 +NX_Q8NCK7 471 47791 8.67 12 Endoplasmic reticulum membrane;Cell membrane Diabetes mellitus, non-insulin-dependent PE1 17 +NX_Q8NCL4 622 71159 8.47 1 Golgi apparatus membrane;Golgi apparatus;Nucleoplasm NA PE1 12 +NX_Q8NCL8 245 27464 9.13 4 Membrane;Nucleoplasm;Cytoskeleton NA PE2 12 +NX_Q8NCL9 501 55635 9.15 1 Mitochondrion;Membrane NA PE1 20 +NX_Q8NCM2 988 111877 7.51 6 Cytoskeleton;Spindle;Membrane NA PE1 14 +NX_Q8NCM8 4307 492622 6.13 0 Cytoplasm;Cell membrane;Cilium axoneme;Mitochondrion Short-rib thoracic dysplasia 3 with or without polydactyly PE1 11 +NX_Q8NCN2 500 55534 6 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q8NCN4 708 77194 9.28 0 Nucleoplasm;Nucleus speckle NA PE1 11 +NX_Q8NCN5 879 99364 5.93 0 Mitochondrion matrix;Mitochondrion NA PE1 16 +NX_Q8NCP5 570 63848 6.16 0 Nucleus;Nucleoplasm NA PE1 11 +NX_Q8NCQ2 148 16070 11.82 0 NA NA PE2 19 +NX_Q8NCQ3 95 11012 8.74 1 Membrane NA PE5 11 +NX_Q8NCQ5 510 57258 8.88 0 NA NA PE1 18 +NX_Q8NCQ7 364 40522 7.94 0 NA NA PE1 17 +NX_Q8NCR0 500 56704 5.46 1 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus;Endoplasmic reticulum Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 PE1 1 +NX_Q8NCR3 313 36720 7.22 0 NA NA PE1 11 +NX_Q8NCR6 262 30167 8.76 0 Cytoskeleton;Nucleus;Cytoplasm NA PE1 9 +NX_Q8NCR9 226 25321 9.3 4 Membrane NA PE1 10 +NX_Q8NCS4 154 16885 9.26 3 Nucleolus;Nucleus;Membrane NA PE1 1 +NX_Q8NCS7 719 81674 8.54 10 Membrane;Cytosol NA PE1 1 +NX_Q8NCT1 418 45479 5.84 0 Early endosome;Cell membrane;Cytoplasmic vesicle NA PE1 15 +NX_Q8NCT3 520 60525 10.03 0 Cell membrane;Cytosol;Nucleus;Cell junction NA PE1 7 +NX_Q8NCU1 140 15808 6.11 0 NA NA PE5 14 +NX_Q8NCU4 936 110568 9.61 0 Mitochondrion NA PE1 3 +NX_Q8NCU7 369 39744 11.28 0 Nucleus NA PE1 15 +NX_Q8NCU8 138 15608 11.19 1 Membrane NA PE1 2 +NX_Q8NCV1 583 61755 9.11 0 NA NA PE1 16 +NX_Q8NCW0 462 48849 7.44 1 Nucleolus;Membrane NA PE1 16 +NX_Q8NCW5 288 31675 7.56 0 Cytosol;Mitochondrion;Secreted;Nucleoplasm Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy PE1 1 +NX_Q8NCW6 608 68919 8.47 1 Golgi apparatus membrane NA PE1 7 +NX_Q8NCX0 1101 128761 6.58 0 Nucleoplasm NA PE1 2 +NX_Q8NCY6 345 41150 5.37 0 Nucleus;Nucleus NA PE1 11 +NX_Q8ND04 991 109684 7.74 0 Nucleoplasm NA PE1 17 +NX_Q8ND07 529 61987 9.07 0 Cell membrane;Microtubule organizing center;Cilium basal body;Nucleus NA PE1 14 +NX_Q8ND23 1372 150230 7.2 0 Cytoplasm;Cell membrane NA PE1 14 +NX_Q8ND24 703 77667 6.51 0 Cytosol;Golgi apparatus NA PE1 11 +NX_Q8ND25 227 23783 6.18 0 Cell membrane;Synaptic vesicle membrane;Membrane;Lysosome;Endosome;Golgi apparatus NA PE1 16 +NX_Q8ND30 876 98544 5.88 0 Mitochondrion NA PE1 11 +NX_Q8ND56 463 50530 9.55 0 Cytosol;P-body;Cytoplasm;Cytosol NA PE1 19 +NX_Q8ND61 904 101266 9.24 1 Cytoplasm;Membrane NA PE1 3 +NX_Q8ND71 665 74890 8.62 0 Endoplasmic reticulum;Golgi apparatus;Mitochondrion;Cytosol NA PE1 7 +NX_Q8ND76 341 39337 6.76 0 Nucleus;Cell membrane;Nucleus NA PE1 10 +NX_Q8ND82 737 83096 9.29 0 Nucleolus;Nucleus;Nucleus NA PE1 X +NX_Q8ND83 568 60595 7.57 0 Cytoskeleton;Cytosol;Nucleoplasm;Cytoskeleton NA PE1 13 +NX_Q8ND90 353 39761 4.78 0 Cytosol;Focal adhesion;Nucleolus NA PE1 14 +NX_Q8ND94 238 25262 6.07 1 Nucleus;Nucleoplasm;Membrane NA PE1 11 +NX_Q8NDA2 5059 541978 5.57 0 Extracellular matrix;Cytoplasmic vesicle;Cleavage furrow NA PE1 9 +NX_Q8NDA8 1641 181249 6.44 0 NA NA PE1 8 +NX_Q8NDB2 785 89282 5.28 0 Nucleoplasm;Cell membrane;Cytosol Systemic lupus erythematosus PE1 4 +NX_Q8NDB6 213 24412 9.75 1 Nucleus envelope;Membrane NA PE1 X +NX_Q8NDC0 245 24269 5.3 0 Cytosol;Nucleoplasm NA PE1 14 +NX_Q8NDC4 146 16236 7.88 0 Nucleus;Cytoplasm;Cytoplasm;Filopodium tip;Stereocilium NA PE1 10 +NX_Q8NDD1 294 32766 9.92 0 Nucleus;Chromosome;Nucleolus;Cytosol NA PE1 1 +NX_Q8NDF8 572 63267 9.07 0 Nucleus;Cytoplasm;Nucleolus NA PE1 16 +NX_Q8NDG6 1382 155683 6.62 0 Cytoplasm;Nucleus NA PE1 14 +NX_Q8NDH2 2452 277951 9.35 0 NA NA PE1 13 +NX_Q8NDH3 523 55861 6.41 0 Nucleoplasm NA PE1 20 +NX_Q8NDH6 482 54407 5.18 0 Mitochondrion NA PE1 2 +NX_Q8NDI1 1231 140017 5.24 0 Cell membrane;Cytosol;Membrane;Endosome;Cytoplasm Prostate cancer, hereditary, 12 PE1 2 +NX_Q8NDL9 886 97534 9.34 0 Spindle;Cytoplasm;Cytosol;Midbody;Nucleus;Cytosol Retinitis pigmentosa 75 PE1 2 +NX_Q8NDM7 1665 191984 5.71 0 Cytoplasm;Nucleus;Flagellum NA PE1 10 +NX_Q8NDN9 531 58252 6.02 0 Cytoplasm;Nucleus;Nucleoplasm Retinal dystrophy with or without extraocular anomalies PE1 13 +NX_Q8NDP4 499 58395 9.4 0 Nucleus NA PE1 19 +NX_Q8NDQ6 660 77094 9.58 0 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoplasm NA PE1 19 +NX_Q8NDT2 890 97205 9.86 0 Nucleoplasm;Nucleoplasm NA PE1 3 +NX_Q8NDV1 305 35395 9.23 1 Nucleoplasm;Golgi apparatus membrane NA PE1 1 +NX_Q8NDV2 337 37604 9.82 7 Cell membrane NA PE1 10 +NX_Q8NDV3 1235 143908 7.69 0 Cytosol;Nucleus;Nucleoplasm;Chromosome;Centromere NA PE1 22 +NX_Q8NDV7 1962 210297 6.55 0 Golgi apparatus;P-body;Cytoplasmic vesicle;Nucleoplasm NA PE1 16 +NX_Q8NDW4 579 67087 8.59 0 Nucleoplasm;Nucleus NA PE1 10 +NX_Q8NDW8 1320 150944 6.85 0 Nucleoplasm NA PE1 3 +NX_Q8NDX1 1056 116249 5.31 0 Cell membrane;Ruffle membrane NA PE1 2 +NX_Q8NDX2 589 64991 5.95 12 Synaptic vesicle membrane;Membrane;Synaptosome Deafness, autosomal dominant, 25 PE1 12 +NX_Q8NDX5 983 106162 6.15 0 Nucleus;Nucleus NA PE1 3 +NX_Q8NDX6 193 21857 9.38 0 Nucleus;Nucleus NA PE1 12 +NX_Q8NDX9 201 22572 6.17 0 Secreted NA PE1 6 +NX_Q8NDY3 354 40105 5.58 0 Nucleoplasm NA PE1 13 +NX_Q8NDY4 140 15384 8.83 0 NA NA PE2 1 +NX_Q8NDY6 225 23665 9.37 0 Nucleus NA PE2 20 +NX_Q8NDY8 209 22122 5.53 1 Membrane NA PE2 1 +NX_Q8NDZ0 799 87919 5.23 0 NA NA PE1 X +NX_Q8NDZ2 872 96838 6.1 0 Nucleus;Nucleolus NA PE1 5 +NX_Q8NDZ4 430 49482 8.84 0 COPI-coated vesicle;Golgi apparatus;Secreted NA PE1 3 +NX_Q8NDZ6 487 55482 8.59 8 Membrane NA PE1 5 +NX_Q8NDZ9 215 22305 12.41 0 NA NA PE5 10 +NX_Q8NE00 496 55679 6.79 11 Membrane;Nucleoplasm;Golgi apparatus NA PE1 17 +NX_Q8NE01 707 76119 5.76 4 Cytosol;Cell membrane NA PE1 2 +NX_Q8NE09 1264 147163 8.08 0 Cytoplasm;Nucleus NA PE1 8 +NX_Q8NE18 718 81039 8.95 0 Cytoplasmic vesicle NA PE1 4 +NX_Q8NE22 299 34095 8.93 0 Nucleoplasm NA PE1 5 +NX_Q8NE28 680 75676 5.23 0 NA NA PE1 9 +NX_Q8NE31 585 65727 5.5 0 Cytosol;Nucleoplasm NA PE1 10 +NX_Q8NE35 698 76014 6.56 0 Cytoplasm;Nucleus;Synapse;Dendrite;Postsynaptic density NA PE1 10 +NX_Q8NE62 594 65358 8.57 0 Mitochondrion inner membrane NA PE1 3 +NX_Q8NE63 616 69425 6.18 0 Cytoplasm NA PE1 19 +NX_Q8NE65 137 15884 4.99 0 Nucleus NA PE1 19 +NX_Q8NE71 845 95926 6.4 0 Cytoplasm;Nucleoplasm;Cytoplasm;Nucleus envelope;Cytosol NA PE1 6 +NX_Q8NE79 360 41451 8.02 3 Lateral cell membrane;Caveola;Cell junction;Tight junction;Membrane;Sarcolemma Limb-girdle muscular dystrophy 2X PE1 6 +NX_Q8NE86 351 39867 8.83 2 Mitochondrion;Mitochondrion inner membrane NA PE1 10 +NX_Q8NEA4 188 22105 8.64 0 Nucleolus;Nucleus NA PE1 2 +NX_Q8NEA5 215 24151 9.06 1 Golgi apparatus;Membrane NA PE1 19 +NX_Q8NEA6 775 83636 8.34 0 Nucleus;Nucleoplasm Diabetes mellitus, neonatal, with congenital hypothyroidism PE1 9 +NX_Q8NEA9 526 60201 8.04 0 Nucleus matrix NA PE1 5 +NX_Q8NEB5 264 29484 8.81 5 Cytoplasmic vesicle;Membrane NA PE1 8 +NX_Q8NEB7 543 61359 5.09 0 Acrosome;Secreted;Nucleoplasm;Cytoplasmic vesicle NA PE1 12 +NX_Q8NEB9 887 101549 6.37 0 Late endosome;Midbody;Autophagosome NA PE1 18 +NX_Q8NEC5 780 90091 7.22 6 Flagellum membrane Spermatogenic failure 7 PE1 11 +NX_Q8NEC7 633 71079 8.04 0 Nucleus;Cytoplasm NA PE1 4 +NX_Q8NEE0 82 9662 10.17 0 NA NA PE5 2 +NX_Q8NEE6 735 83924 9.03 0 NA NA PE2 7 +NX_Q8NEE8 873 98309 9.15 0 NA NA PE1 9 +NX_Q8NEF3 446 53565 9.48 0 Cell membrane;Cytosol;Nucleoplasm NA PE1 5 +NX_Q8NEF9 429 48634 9.59 0 Perinuclear region;Nucleus;Nucleolus;Cytoplasmic vesicle NA PE1 5 +NX_Q8NEG0 241 27472 6.53 0 NA NA PE1 12 +NX_Q8NEG2 295 32846 7.78 0 NA NA PE1 7 +NX_Q8NEG4 500 55486 8.38 0 Nucleus;Mitochondrion NA PE1 22 +NX_Q8NEG5 633 72732 8.95 0 NA NA PE1 2 +NX_Q8NEG7 585 66464 9.11 0 Cytoplasm;Cell membrane;Recycling endosome NA PE1 22 +NX_Q8NEH6 495 60571 6.73 0 Nucleoplasm;Nucleus;Nucleus speckle NA PE1 15 +NX_Q8NEJ0 188 21066 7.04 0 Mitochondrion inner membrane;Nucleus;Nucleoplasm;Cytoplasm NA PE1 22 +NX_Q8NEJ9 315 35894 9.57 0 Nucleus;Filopodium;Centromere;Cytoplasm;Axon;Dendrite;Nucleolus;Nucleus;Mitochondrion;Nucleolus NA PE1 14 +NX_Q8NEK5 533 62728 8.37 0 Nucleus;Nucleus NA PE1 19 +NX_Q8NEK8 389 44500 6.17 0 NA NA PE1 X +NX_Q8NEL0 328 37886 8.61 0 NA NA PE1 3 +NX_Q8NEL9 900 100435 5.42 0 Cytoplasm Spastic paraplegia 28, autosomal recessive PE1 14 +NX_Q8NEM0 835 92849 8.56 0 Nucleus;Nucleoplasm;Centrosome Microcephaly 1, primary, autosomal recessive PE1 8 +NX_Q8NEM1 530 61798 9.19 0 Nucleus;Nucleus NA PE1 7 +NX_Q8NEM2 672 75690 4.66 0 Midbody;Spindle;Cytoskeleton;Nucleus NA PE1 16 +NX_Q8NEM7 779 85789 8.77 0 Nucleus;Nucleolus NA PE1 13 +NX_Q8NEM8 1001 116011 8.98 0 Cytosol;Nucleus speckle;Cytosol;Mitochondrion NA PE2 7 +NX_Q8NEN0 867 96867 8.53 0 Nucleus;Cytoplasm;Nucleus NA PE2 6 +NX_Q8NEN9 1154 128563 5.78 0 Nucleolus;Cell membrane NA PE1 10 +NX_Q8NEP3 725 80026 4.57 0 Cilium;Cytoplasm;Spindle pole;Nucleus speckle;Cell membrane;Cytosol Ciliary dyskinesia, primary, 13 PE1 16 +NX_Q8NEP4 570 63111 9.29 0 NA NA PE1 17 +NX_Q8NEP7 349 37754 8.71 0 Nucleoplasm NA PE1 1 +NX_Q8NEP9 628 73084 9.26 0 Nucleus NA PE1 19 +NX_Q8NEQ5 155 16886 9.05 1 Membrane NA PE1 1 +NX_Q8NEQ6 169 17657 9.23 0 Nucleoplasm NA PE1 1 +NX_Q8NER1 839 94956 6.9 6 Endoplasmic reticulum;Dendritic spine membrane;Postsynaptic cell membrane;Cell membrane NA PE1 17 +NX_Q8NER5 493 54871 8.22 1 Membrane NA PE1 2 +NX_Q8NES3 379 41773 9.35 1 Golgi apparatus membrane Spondylocostal dysostosis 3, autosomal recessive PE1 7 +NX_Q8NES8 71 8058 8.26 0 Secreted NA PE3 20 +NX_Q8NET1 73 8326 8.65 0 Secreted NA PE2 11 +NX_Q8NET4 1388 144280 5.81 0 NA NA PE1 X +NX_Q8NET5 270 29686 9.04 1 Cell membrane NA PE1 22 +NX_Q8NET6 341 38920 10.56 1 Golgi apparatus membrane NA PE1 3 +NX_Q8NET8 790 90636 6.17 6 Membrane;Cytosol;Centrosome;Cell membrane Olmsted syndrome;Palmoplantar keratoderma, non-epidermolytic, focal 2 PE1 17 +NX_Q8NEU8 664 74493 4.87 0 Early endosome membrane;Nucleus NA PE1 12 +NX_Q8NEV1 391 45220 8.54 0 NA NA PE1 11 +NX_Q8NEV4 1616 186208 9.04 0 Cell membrane;Cytoskeleton;Cytoskeleton;Cytoplasm;Filopodium tip;Stereocilium;Cytosol Deafness, autosomal recessive, 30 PE1 10 +NX_Q8NEV8 1989 222519 7.98 0 NA Epidermolysis bullosa, non-specific, autosomal recessive PE1 11 +NX_Q8NEV9 243 27493 6.18 0 Secreted NA PE1 16 +NX_Q8NEW0 376 41626 6.43 6 Golgi apparatus;Golgi apparatus;trans-Golgi network membrane NA PE1 1 +NX_Q8NEW7 156 17241 9.43 1 Cytoplasmic vesicle;Membrane;Cytosol Deafness, autosomal recessive, 6 PE1 3 +NX_Q8NEX5 89 10506 7.5 0 Secreted NA PE1 20 +NX_Q8NEX6 87 10340 8.75 0 Secreted NA PE2 20 +NX_Q8NEX9 313 35263 9.26 0 Cytoplasm;Nucleolus;Cytosol Ichthyosis, congenital, autosomal recessive 13 PE1 12 +NX_Q8NEY1 1877 202472 8.2 0 Cytoskeleton;Cytoskeleton NA PE1 1 +NX_Q8NEY3 305 34751 9.86 0 NA NA PE1 4 +NX_Q8NEY4 427 48759 5.82 0 Mitochondrion NA PE1 2 +NX_Q8NEY8 458 52737 9.15 0 Golgi apparatus;Nucleoplasm;Nucleus;Cytoplasm;Chromosome NA PE1 12 +NX_Q8NEZ2 397 44314 5.37 0 Late endosome membrane;Nucleus;Cytoplasmic vesicle;Centrosome;Cytosol Spastic paraplegia 53, autosomal recessive PE1 8 +NX_Q8NEZ3 1342 151581 5.94 0 Nucleoplasm;Cilium;Cilium basal body;Photoreceptor outer segment;Nucleus Cranioectodermal dysplasia 4;Senior-Loken syndrome 8;Short-rib thoracic dysplasia 5 with or without polydactyly;Nephronophthisis 13 PE1 4 +NX_Q8NEZ4 4911 541370 6.07 0 Nucleus;Nucleoplasm NA PE1 7 +NX_Q8NEZ5 403 44508 6.61 0 Z line NA PE1 15 +NX_Q8NF37 534 59151 5.77 1 Lipid droplet;Lipid droplet;Golgi apparatus membrane;Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 5 +NX_Q8NF50 2099 238529 6.43 0 Cytosol;Nucleoplasm;Cytoplasm;Cell membrane;Centrosome;Lamellipodium membrane;Mitochondrion Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;Mental retardation, autosomal dominant 2 PE1 9 +NX_Q8NF64 920 96537 6.68 0 Nucleus;Nucleoplasm NA PE1 7 +NX_Q8NF67 263 31171 5.19 0 NA NA PE5 1 +NX_Q8NF86 280 29787 10.03 0 Secreted NA PE1 16 +NX_Q8NF91 8797 1011086 5.37 1 Cytoskeleton;Golgi apparatus;Nucleus outer membrane;Nucleus;Nucleus envelope;Nucleoplasm;Sarcomere;Nucleus membrane Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive, 8 PE1 6 +NX_Q8NF99 534 61139 6.93 0 Cell membrane;Nucleolus;Nucleus;Cytoskeleton;Cytoplasm;Cytosol NA PE1 18 +NX_Q8NFA0 1604 181656 6.01 0 Cytosol;Membrane;Golgi apparatus;Golgi apparatus NA PE1 17 +NX_Q8NFA2 376 41253 9.9 0 Cell membrane NA PE1 16 +NX_Q8NFB2 350 40631 6.79 7 Dendrite;Membrane NA PE1 X +NX_Q8NFC6 3051 330466 5 0 Cytoplasm;Nucleoplasm;Chromosome NA PE1 4 +NX_Q8NFD2 765 84632 6.6 0 NA NA PE2 11 +NX_Q8NFD4 153 16997 11.11 0 NA NA PE2 9 +NX_Q8NFD5 2236 236123 6.26 0 Nucleus;Nucleolus;Nucleoplasm;Nucleus Coffin-Siris syndrome 1 PE1 6 +NX_Q8NFF2 622 69042 7.48 10 Cytoplasm;Cell membrane Amelogenesis imperfecta, hypomaturation type, 2A5 PE1 14 +NX_Q8NFF5 587 65266 6.49 0 Mitochondrion matrix;Cytosol;Cytoplasm;Cell membrane Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency PE1 1 +NX_Q8NFG4 579 64473 5.83 0 Cytoplasm;Cell membrane;Cytosol;Nucleus Renal cell carcinoma;Primary spontaneous pneumothorax;Birt-Hogg-Dube syndrome PE1 17 +NX_Q8NFH3 380 42151 5.31 0 Kinetochore;Nuclear pore complex NA PE1 6 +NX_Q8NFH4 326 36708 5.55 0 Nucleoplasm;Kinetochore;Nuclear pore complex NA PE1 12 +NX_Q8NFH5 326 34774 9.15 0 Cell membrane;Nuclear pore complex;Nucleus membrane;Nucleus membrane;Nucleoplasm NA PE1 2 +NX_Q8NFH8 660 71534 7.56 0 Cytoplasm NA PE1 X +NX_Q8NFI3 743 83987 6.34 0 Cytosol;Cytosol;Centrosome NA PE1 17 +NX_Q8NFI4 369 41378 4.96 0 Cytoplasm NA PE5 11 +NX_Q8NFJ5 357 40251 8.39 7 Cell membrane;Cytoplasmic vesicle;Cell membrane;Cytoplasmic vesicle membrane NA PE1 12 +NX_Q8NFJ6 384 43996 9.04 7 Cell membrane Hypogonadotropic hypogonadism 3 with or without anosmia PE1 20 +NX_Q8NFJ8 381 36997 7.04 0 Nucleus NA PE2 8 +NX_Q8NFJ9 593 65083 8.02 0 Midbody;Centriolar satellite;Cilium membrane;Cytoplasm Bardet-Biedl syndrome 1 PE1 11 +NX_Q8NFK1 279 31299 9.35 4 Gap junction;Cell membrane NA PE1 7 +NX_Q8NFL0 401 45987 9.2 1 Golgi apparatus membrane NA PE1 2 +NX_Q8NFM4 1077 119794 7.31 12 Cytoplasm;Cell membrane NA PE1 14 +NX_Q8NFM7 739 82411 6.78 1 Golgi apparatus;Golgi apparatus membrane;Cell membrane;Cytoplasm;Nucleoplasm Hypogonadotropic hypogonadism 18 with or without anosmia PE1 3 +NX_Q8NFN8 814 89097 7.74 7 Cell membrane;Cell membrane NA PE2 3 +NX_Q8NFP0 134 16023 9.17 0 Peroxisome NA PE2 6 +NX_Q8NFP4 955 105790 8.65 0 Cell membrane;Golgi apparatus;Cell membrane NA PE1 6 +NX_Q8NFP7 164 18500 5.52 0 Cytoplasm NA PE1 X +NX_Q8NFP9 2946 327822 5.78 0 Nucleus;Membrane;Golgi apparatus;Nucleolus;Cytoplasm NA PE1 13 +NX_Q8NFQ5 453 49717 8.97 0 Secreted NA PE1 20 +NX_Q8NFQ6 507 56469 5.56 0 Secreted NA PE2 22 +NX_Q8NFQ8 470 51263 4.84 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus membrane NA PE1 1 +NX_Q8NFR3 76 9198 7.72 2 Endoplasmic reticulum membrane NA PE1 3 +NX_Q8NFR7 591 71076 9 0 Nucleus;Nucleolus NA PE1 2 +NX_Q8NFR9 667 74810 9.43 1 Secreted;Cytoplasm;Cell membrane NA PE1 3 +NX_Q8NFT2 490 56056 9.28 6 Endosome membrane;Cell membrane;Cytoplasmic vesicle NA PE1 7 +NX_Q8NFT6 615 67243 8.72 0 Nucleus;Nucleus NA PE1 17 +NX_Q8NFT8 737 78475 5.03 1 Cell membrane NA PE1 2 +NX_Q8NFU0 473 53497 5.81 4 Cell membrane NA PE1 1 +NX_Q8NFU1 509 57139 5.11 4 Cell membrane NA PE1 19 +NX_Q8NFU3 115 12530 5.85 0 Cytosol;Cytosol;Perinuclear region NA PE1 1 +NX_Q8NFU4 85 9700 9.3 0 Secreted NA PE1 4 +NX_Q8NFU5 416 47222 7.27 0 Nucleus;Nucleus NA PE1 10 +NX_Q8NFU7 2136 235309 8.53 0 Nucleus membrane;Nucleus;Nucleus NA PE1 10 +NX_Q8NFV4 315 34690 9.5 0 Mitochondrion NA PE1 7 +NX_Q8NFV5 336 40668 9.52 0 NA NA PE2 7 +NX_Q8NFW1 1626 161145 6.88 0 Cytoplasmic vesicle;Endoplasmic reticulum;Extracellular matrix;Cytoplasm NA PE1 8 +NX_Q8NFW5 382 41198 8.76 0 Nucleus NA PE1 1 +NX_Q8NFW8 434 48379 8.16 0 Cytosol;Nucleus;Nucleolus NA PE1 12 +NX_Q8NFW9 859 95706 5.44 0 Nucleolus;Nucleus;Golgi apparatus;Cytoplasm;Perinuclear region;Secretory vesicle NA PE1 3 +NX_Q8NFX7 210 23554 9.19 0 Cytoplasm;Membrane NA PE1 14 +NX_Q8NFY4 1073 119872 8.77 1 Cytoplasm;Cell membrane;Golgi apparatus;Cell membrane NA PE1 15 +NX_Q8NFY9 601 68823 5.88 0 Spindle;Golgi apparatus NA PE1 3 +NX_Q8NFZ0 1043 117686 8.58 0 Nucleus;Chromosome NA PE1 10 +NX_Q8NFZ3 816 92021 5.77 1 Cell membrane;Postsynaptic density NA PE2 Y +NX_Q8NFZ4 835 90820 5.78 1 Cell membrane;Presynaptic cell membrane;Postsynaptic cell membrane;Mitochondrion NA PE1 17 +NX_Q8NFZ5 429 48700 6.03 0 Nucleus;Cytosol;Nucleoplasm;Cytoplasm NA PE1 4 +NX_Q8NFZ6 395 44476 9.52 8 Cell membrane NA PE2 19 +NX_Q8NFZ8 388 42785 5.92 1 Nucleus;Nucleus membrane;Membrane NA PE1 19 +NX_Q8NG04 563 60059 8.6 5 Membrane NA PE2 12 +NX_Q8NG06 486 54766 5.87 0 NA NA PE1 1 +NX_Q8NG08 1087 123252 5.59 0 Nucleus;Cytoplasm;Chromosome NA PE1 12 +NX_Q8NG11 270 30691 6.41 4 Cell membrane;Cytoplasmic vesicle NA PE1 10 +NX_Q8NG27 643 71002 5.05 0 Nucleolus;Nucleus NA PE1 X +NX_Q8NG31 2342 265391 5.3 0 Nucleus;Nucleoplasm;Nucleus;Kinetochore Microcephaly 4, primary, autosomal recessive PE1 15 +NX_Q8NG35 78 8923 8.71 0 Secreted NA PE2 8 +NX_Q8NG41 125 13097 9.97 0 Secreted NA PE1 17 +NX_Q8NG48 757 85857 6.07 0 Nucleoplasm Mental retardation, autosomal recessive 27 PE1 15 +NX_Q8NG50 284 31970 5.75 0 Nucleolus;Nucleus;Cytosol;Cajal body;PML body;Cytoplasm;Nucleolus NA PE1 17 +NX_Q8NG57 546 59744 9.86 0 Nucleus NA PE1 18 +NX_Q8NG66 645 74192 5 0 Nucleolus;Nucleus;Nucleoplasm NA PE1 3 +NX_Q8NG68 377 43212 6.28 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 2 +NX_Q8NG75 326 36885 7.57 7 Cell membrane NA PE2 11 +NX_Q8NG76 320 35876 8.91 7 Cell membrane NA PE2 1 +NX_Q8NG77 320 35946 8.96 7 Cell membrane NA PE3 1 +NX_Q8NG78 346 38798 8.65 7 Cell membrane NA PE2 11 +NX_Q8NG80 312 35648 8.87 7 Cell membrane NA PE3 1 +NX_Q8NG81 312 34902 7.52 7 Cell membrane NA PE2 1 +NX_Q8NG83 312 34827 8.45 7 Cell membrane NA PE2 1 +NX_Q8NG84 335 37763 9.23 7 Cell membrane NA PE2 1 +NX_Q8NG85 312 35282 8.96 7 Cell membrane NA PE2 1 +NX_Q8NG92 308 34570 9.25 7 Cell membrane NA PE2 X +NX_Q8NG94 326 36578 8.35 7 Cell membrane NA PE3 22 +NX_Q8NG95 312 34439 8.53 7 Cell membrane NA PE3 19 +NX_Q8NG97 314 34444 7.57 7 Cell membrane NA PE2 19 +NX_Q8NG98 312 34448 7.05 7 Cell membrane NA PE2 19 +NX_Q8NG99 324 35931 8.51 7 Cell membrane NA PE3 19 +NX_Q8NGA0 311 34803 8.77 7 Cell membrane NA PE3 19 +NX_Q8NGA1 313 34840 9.18 7 Cell membrane NA PE2 19 +NX_Q8NGA2 310 34430 6.42 7 Cell membrane NA PE5 19 +NX_Q8NGA4 272 30291 9.49 5 Cell membrane NA PE5 19 +NX_Q8NGA5 316 35765 8.92 7 Cell membrane NA PE3 19 +NX_Q8NGA6 315 34900 8.92 7 Cell membrane NA PE2 19 +NX_Q8NGA8 305 34212 8.69 7 Cell membrane NA PE2 19 +NX_Q8NGB2 326 36862 6.57 7 Cell membrane NA PE3 11 +NX_Q8NGB4 309 34800 9 7 Cell membrane NA PE3 11 +NX_Q8NGB6 313 35416 7.48 7 Cell membrane NA PE2 15 +NX_Q8NGB8 312 35369 8.84 7 Cell membrane NA PE2 15 +NX_Q8NGB9 312 35355 8.88 7 Cell membrane NA PE2 15 +NX_Q8NGC0 362 40658 9.24 7 Cell membrane NA PE2 14 +NX_Q8NGC1 345 38871 9.47 7 Cell membrane NA PE3 14 +NX_Q8NGC2 313 35466 8.26 7 Cell membrane NA PE3 14 +NX_Q8NGC3 310 34472 9.04 7 Cell membrane NA PE2 14 +NX_Q8NGC4 313 35055 9.17 7 Cell membrane NA PE3 14 +NX_Q8NGC5 347 38693 8.84 7 Cell membrane NA PE3 14 +NX_Q8NGC6 315 35312 8.97 7 Cell membrane NA PE3 14 +NX_Q8NGC7 330 36788 8.59 7 Cell membrane NA PE3 14 +NX_Q8NGC8 314 35499 8.71 7 Cell membrane NA PE3 14 +NX_Q8NGC9 324 36886 9.05 7 Cell membrane NA PE2 14 +NX_Q8NGD0 313 35488 8.41 7 Cell membrane NA PE2 14 +NX_Q8NGD1 307 34721 9.06 7 Cell membrane NA PE2 14 +NX_Q8NGD2 314 35357 7.59 7 Cell membrane NA PE2 14 +NX_Q8NGD3 323 36258 8.77 7 Cell membrane NA PE3 14 +NX_Q8NGD4 311 35201 6.43 7 Cell membrane NA PE2 14 +NX_Q8NGD5 310 35053 8.46 7 Cell membrane NA PE3 14 +NX_Q8NGE0 317 35698 8.46 7 Cell membrane NA PE2 12 +NX_Q8NGE1 309 35010 8.91 7 Cell membrane NA PE2 12 +NX_Q8NGE2 309 34902 8.66 7 Cell membrane NA PE3 12 +NX_Q8NGE3 313 34741 9.77 7 Cell membrane NA PE2 12 +NX_Q8NGE5 316 35695 8.78 7 Cell membrane NA PE3 12 +NX_Q8NGE7 335 37746 8.68 6 Cell membrane NA PE2 12 +NX_Q8NGE8 314 35666 9.08 7 Cell membrane NA PE3 11 +NX_Q8NGE9 314 35363 8.83 7 Cell membrane NA PE3 11 +NX_Q8NGF0 335 36963 8.61 7 Cell membrane NA PE3 11 +NX_Q8NGF1 315 34943 8.49 7 Cell membrane NA PE3 11 +NX_Q8NGF3 324 35839 8.99 7 Cell membrane NA PE2 11 +NX_Q8NGF4 316 35508 8.9 7 Cell membrane NA PE2 11 +NX_Q8NGF6 305 33376 6.83 7 Cell membrane NA PE2 11 +NX_Q8NGF7 314 35091 7.56 7 Cell membrane NA PE3 11 +NX_Q8NGF8 309 34456 7.54 7 Cell membrane NA PE3 11 +NX_Q8NGF9 303 34289 8.75 7 Cell membrane NA PE2 11 +NX_Q8NGG0 315 35481 8.62 7 Cell membrane NA PE3 11 +NX_Q8NGG1 315 35160 8.51 7 Membrane NA PE3 11 +NX_Q8NGG2 359 40696 8.91 7 Cell membrane NA PE2 11 +NX_Q8NGG3 340 38346 8.3 7 Cell membrane NA PE3 11 +NX_Q8NGG4 311 35228 9.03 7 Cell membrane NA PE2 11 +NX_Q8NGG5 319 36581 9.18 7 Cell membrane NA PE2 11 +NX_Q8NGG6 310 34372 8.51 7 Cell membrane NA PE2 11 +NX_Q8NGG7 326 36388 8.69 7 Cell membrane NA PE2 11 +NX_Q8NGG8 313 35305 9.07 7 Cell membrane NA PE3 11 +NX_Q8NGH3 330 37489 9.21 7 Cell membrane NA PE2 11 +NX_Q8NGH5 318 35823 9.03 7 Cell membrane NA PE2 11 +NX_Q8NGH6 319 35227 8.98 7 Cell membrane NA PE5 11 +NX_Q8NGH7 329 36221 8.57 7 Cell membrane NA PE2 11 +NX_Q8NGH8 313 35116 9.03 7 Cell membrane NA PE2 11 +NX_Q8NGH9 312 35480 8.84 7 Cell membrane NA PE3 11 +NX_Q8NGI0 321 35940 8.35 7 Cell membrane NA PE3 11 +NX_Q8NGI1 322 35955 8.99 7 Cell membrane NA PE5 11 +NX_Q8NGI2 321 36080 8.48 7 Cell membrane NA PE2 11 +NX_Q8NGI3 324 36050 8.5 7 Cell membrane NA PE2 11 +NX_Q8NGI4 311 34969 9.06 7 Cell membrane NA PE3 11 +NX_Q8NGI6 311 35300 9.07 7 Cell membrane NA PE2 11 +NX_Q8NGI7 309 34746 8.69 7 Cell membrane NA PE3 11 +NX_Q8NGI8 311 34789 8.83 7 Cell membrane NA PE2 11 +NX_Q8NGI9 324 36016 8.46 7 Cell membrane NA PE2 11 +NX_Q8NGJ0 315 35152 8.53 7 Cell membrane NA PE2 11 +NX_Q8NGJ1 314 35954 8.75 7 Cell membrane NA PE2 11 +NX_Q8NGJ2 320 35592 8.18 7 Cell membrane NA PE2 11 +NX_Q8NGJ3 308 34714 8.64 7 Cell membrane NA PE3 11 +NX_Q8NGJ4 325 36630 8.69 7 Cell membrane NA PE3 11 +NX_Q8NGJ5 315 35369 7.65 7 Cell membrane NA PE3 11 +NX_Q8NGJ6 313 35256 9.15 7 Cell membrane NA PE3 11 +NX_Q8NGJ7 313 35078 9.06 7 Cell membrane NA PE3 11 +NX_Q8NGJ8 323 35313 9.13 7 Cell membrane NA PE2 11 +NX_Q8NGJ9 327 36998 9.45 7 Cell membrane NA PE3 11 +NX_Q8NGK0 314 35012 8.93 7 Cell membrane NA PE2 11 +NX_Q8NGK1 321 36290 8.97 7 Cell membrane NA PE2 11 +NX_Q8NGK2 314 35584 8.82 7 Cell membrane NA PE3 11 +NX_Q8NGK3 314 34926 8.8 7 Cell membrane NA PE2 11 +NX_Q8NGK4 314 35231 8.97 7 Cell membrane NA PE2 11 +NX_Q8NGK5 317 35037 8.99 7 Cell membrane NA PE3 11 +NX_Q8NGK6 324 35386 7.16 7 Cell membrane NA PE3 11 +NX_Q8NGK9 328 37278 8.62 7 Cell membrane NA PE3 11 +NX_Q8NGL0 311 34682 8.46 7 Cell membrane NA PE2 11 +NX_Q8NGL1 313 35348 8.68 7 Cell membrane NA PE2 11 +NX_Q8NGL2 311 34559 8.29 7 Cell membrane NA PE2 11 +NX_Q8NGL3 314 35823 9.01 7 Cell membrane NA PE3 11 +NX_Q8NGL4 314 35447 8.19 7 Cell membrane NA PE3 11 +NX_Q8NGL6 344 38828 9.01 7 Cell membrane NA PE3 11 +NX_Q8NGL7 312 35795 8.76 7 Cell membrane NA PE3 11 +NX_Q8NGL9 310 34991 8.8 7 Cell membrane NA PE3 11 +NX_Q8NGM1 316 35667 8.02 7 Cell membrane NA PE3 11 +NX_Q8NGM8 313 35328 8.54 7 Cell membrane NA PE2 11 +NX_Q8NGM9 314 35019 9.04 7 Cell membrane NA PE2 11 +NX_Q8NGN0 318 35771 8.95 7 Cell membrane NA PE2 11 +NX_Q8NGN1 323 36348 9.39 7 Cell membrane NA PE2 11 +NX_Q8NGN2 331 36501 8.47 7 Cell membrane NA PE2 11 +NX_Q8NGN3 311 34569 8.99 7 Cell membrane NA PE3 11 +NX_Q8NGN4 311 34574 8.57 7 Cell membrane NA PE3 11 +NX_Q8NGN5 311 34519 9.14 7 Cell membrane NA PE2 11 +NX_Q8NGN6 311 34517 8.85 7 Cell membrane NA PE3 11 +NX_Q8NGN7 298 33107 8.33 7 Cell membrane NA PE5 11 +NX_Q8NGN8 299 33593 8.83 7 Cell membrane NA PE5 11 +NX_Q8NGP0 309 34582 8.72 7 Cell membrane NA PE2 11 +NX_Q8NGP2 316 35415 8.61 7 Cell membrane NA PE2 11 +NX_Q8NGP3 310 35093 8.7 7 Cell membrane NA PE3 11 +NX_Q8NGP4 307 35156 9.19 7 Cell membrane NA PE2 11 +NX_Q8NGP6 311 35603 8.78 7 Cell membrane NA PE2 11 +NX_Q8NGP8 315 35608 8.41 7 Cell membrane NA PE3 11 +NX_Q8NGP9 310 34815 7.52 7 Cell membrane NA PE3 11 +NX_Q8NGQ1 327 36344 8.25 7 Cell membrane NA PE3 11 +NX_Q8NGQ2 317 35736 8.32 7 Cell membrane NA PE2 11 +NX_Q8NGQ3 325 36579 7.63 7 Cell membrane NA PE3 11 +NX_Q8NGQ4 319 35602 8.16 7 Cell membrane NA PE3 11 +NX_Q8NGQ5 310 34757 5.72 7 Cell membrane NA PE2 11 +NX_Q8NGQ6 314 34908 9 7 Cell membrane NA PE3 11 +NX_Q8NGR1 328 36494 8.7 7 Cell membrane NA PE2 10 +NX_Q8NGR2 347 39515 9.6 7 Cell membrane NA PE3 9 +NX_Q8NGR3 316 34268 8.1 7 Cell membrane NA PE2 9 +NX_Q8NGR4 320 34991 8.88 7 Cell membrane NA PE2 9 +NX_Q8NGR5 311 35277 9.44 7 Cell membrane NA PE3 9 +NX_Q8NGR6 318 35293 8.48 7 Cell membrane NA PE3 9 +NX_Q8NGR8 309 35083 8.96 7 Cell membrane NA PE2 9 +NX_Q8NGR9 330 36889 7.98 7 Cell membrane NA PE2 9 +NX_Q8NGS0 311 34650 7.92 7 Cell membrane NA PE3 9 +NX_Q8NGS1 313 34959 6.42 7 Cell membrane NA PE2 9 +NX_Q8NGS2 313 35385 6.48 7 Cell membrane NA PE2 9 +NX_Q8NGS3 322 35493 7.96 7 Cell membrane NA PE2 9 +NX_Q8NGS4 319 35646 8.94 7 Cell membrane NA PE3 9 +NX_Q8NGS5 318 35576 9.3 7 Cell membrane NA PE3 9 +NX_Q8NGS6 347 38729 8.83 7 Cell membrane NA PE2 9 +NX_Q8NGS7 320 35294 8.47 7 Cell membrane NA PE3 9 +NX_Q8NGS8 318 35796 8.53 7 Cell membrane NA PE2 9 +NX_Q8NGS9 318 35694 7.58 7 Cell membrane NA PE2 9 +NX_Q8NGT0 318 35854 8.56 7 Cell membrane NA PE3 9 +NX_Q8NGT1 345 38473 8.76 7 Cell membrane NA PE2 9 +NX_Q8NGT2 312 34689 8.87 7 Cell membrane NA PE2 9 +NX_Q8NGT5 310 35330 8.84 6 Cell membrane NA PE2 7 +NX_Q8NGT7 310 35213 9.24 7 Cell membrane NA PE3 7 +NX_Q8NGT9 310 34714 8.9 7 Cell membrane NA PE3 7 +NX_Q8NGU1 263 29546 7.46 6 Cell membrane NA PE5 7 +NX_Q8NGU2 314 35758 8.8 7 Cell membrane NA PE2 7 +NX_Q8NGU4 316 34115 9.61 7 Cell membrane NA PE5 6 +NX_Q8NGU9 434 46353 10.17 7 Cell membrane NA PE3 5 +NX_Q8NGV0 311 34731 8.66 7 Cell membrane NA PE2 5 +NX_Q8NGV5 346 39125 7.53 7 Cell membrane NA PE2 9 +NX_Q8NGV6 325 36713 6.64 7 Cell membrane NA PE2 3 +NX_Q8NGV7 314 35974 7.57 7 Cell membrane NA PE3 3 +NX_Q8NGW1 331 37232 8.53 7 Cell membrane NA PE3 2 +NX_Q8NGW6 343 38362 8.39 7 Cell membrane NA PE2 1 +NX_Q8NGX0 322 36763 9.22 7 Cell membrane NA PE3 1 +NX_Q8NGX1 318 35681 8.7 7 Cell membrane NA PE2 1 +NX_Q8NGX2 323 36101 9.03 7 Cell membrane NA PE3 1 +NX_Q8NGX3 314 35011 9.24 7 Cell membrane NA PE3 1 +NX_Q8NGX5 313 35079 9.33 7 Cell membrane NA PE2 1 +NX_Q8NGX6 335 37486 8.88 7 Cell membrane NA PE3 1 +NX_Q8NGX8 325 36636 8.38 7 Cell membrane NA PE3 1 +NX_Q8NGX9 317 35831 8.77 7 Cell membrane NA PE3 1 +NX_Q8NGY0 326 36446 8.51 7 Cell membrane NA PE3 1 +NX_Q8NGY1 313 34609 8.48 7 Cell membrane NA PE3 1 +NX_Q8NGY2 324 36513 8.21 7 Cell membrane NA PE2 1 +NX_Q8NGY3 331 37352 6.97 7 Cell membrane NA PE3 1 +NX_Q8NGY5 312 34869 8.63 7 Cell membrane NA PE3 1 +NX_Q8NGY6 317 35692 9.08 7 Cell membrane NA PE3 1 +NX_Q8NGY7 276 31021 8.87 7 Cell membrane NA PE5 1 +NX_Q8NGY9 312 35444 8.86 7 Cell membrane NA PE3 1 +NX_Q8NGZ0 328 37063 9.12 7 Cell membrane NA PE3 1 +NX_Q8NGZ2 314 34861 8.77 7 Cell membrane NA PE3 1 +NX_Q8NGZ3 307 34672 8.52 7 Cell membrane NA PE2 1 +NX_Q8NGZ4 309 34506 8.04 7 Cell membrane NA PE2 1 +NX_Q8NGZ5 317 35559 9.44 7 Cell membrane NA PE3 1 +NX_Q8NGZ6 308 33961 8.9 7 Cell membrane NA PE2 1 +NX_Q8NGZ9 312 35403 8.81 7 Cell membrane NA PE2 1 +NX_Q8NH00 348 39414 7.2 7 Cell membrane NA PE3 1 +NX_Q8NH01 316 34797 8.18 7 Cell membrane NA PE3 1 +NX_Q8NH02 315 35595 8.59 7 Cell membrane NA PE3 1 +NX_Q8NH03 318 35598 8.42 7 Cell membrane NA PE2 1 +NX_Q8NH04 317 35514 8.47 7 Cell membrane NA PE3 1 +NX_Q8NH05 313 35491 7.83 7 Cell membrane NA PE3 14 +NX_Q8NH06 330 36638 8.32 7 Cell membrane NA PE2 17 +NX_Q8NH07 326 36531 8.35 7 Cell membrane NA PE3 14 +NX_Q8NH08 325 35157 9.34 7 Cell membrane NA PE3 7 +NX_Q8NH09 359 39645 8.84 7 Cell membrane;Cell membrane NA PE3 12 +NX_Q8NH10 309 35088 7.97 7 Cell membrane NA PE3 11 +NX_Q8NH16 312 35495 8.94 7 Cell membrane NA PE2 1 +NX_Q8NH18 312 34808 8.3 7 Cell membrane NA PE3 11 +NX_Q8NH19 301 34105 9.07 7 Cell membrane NA PE2 11 +NX_Q8NH21 305 34330 8.53 7 Cell membrane NA PE3 1 +NX_Q8NH37 302 33726 6.68 7 Cell membrane NA PE2 11 +NX_Q8NH40 331 36127 8.66 7 Cell membrane NA PE3 14 +NX_Q8NH41 348 39088 9.1 7 Cell membrane NA PE2 14 +NX_Q8NH42 304 34261 9.04 7 Cell membrane NA PE3 14 +NX_Q8NH43 312 35264 9.03 7 Cell membrane NA PE3 14 +NX_Q8NH48 314 35258 6.48 7 Cell membrane NA PE3 11 +NX_Q8NH49 305 34222 8.74 7 Cell membrane NA PE3 11 +NX_Q8NH50 307 35190 6.48 7 Cell membrane NA PE3 11 +NX_Q8NH51 312 35463 8.02 7 Cell membrane NA PE3 11 +NX_Q8NH53 320 35785 8.57 7 Cell membrane NA PE3 11 +NX_Q8NH54 315 35611 8.82 7 Cell membrane NA PE3 11 +NX_Q8NH55 327 36851 9.12 7 Cell membrane NA PE3 11 +NX_Q8NH56 324 36212 8.88 7 Cell membrane NA PE2 11 +NX_Q8NH57 321 34890 8.69 7 Cell membrane NA PE5 11 +NX_Q8NH59 317 35747 8.69 7 Cell membrane NA PE2 11 +NX_Q8NH60 311 35091 8.82 7 Cell membrane NA PE3 11 +NX_Q8NH61 342 38518 9.06 7 Cell membrane NA PE2 11 +NX_Q8NH63 302 33766 8.97 7 Cell membrane NA PE3 11 +NX_Q8NH64 312 35132 9.12 7 Cell membrane NA PE2 11 +NX_Q8NH67 350 38353 8.42 7 Cell membrane NA PE2 11 +NX_Q8NH69 310 35167 6.57 7 Cell membrane NA PE3 11 +NX_Q8NH70 328 36922 8.58 7 Cell membrane NA PE3 11 +NX_Q8NH72 309 34558 8.45 7 Cell membrane NA PE2 11 +NX_Q8NH73 311 35172 8.53 7 Cell membrane NA PE3 11 +NX_Q8NH74 314 35318 8.37 7 Cell membrane NA PE3 11 +NX_Q8NH76 319 35454 8.01 7 Cell membrane NA PE2 11 +NX_Q8NH79 312 34727 9.1 7 Cell membrane NA PE2 11 +NX_Q8NH80 312 34812 8.31 7 Cell membrane NA PE5 11 +NX_Q8NH81 332 36823 7.53 7 Cell membrane NA PE3 11 +NX_Q8NH83 315 34915 8.41 7 Cell membrane NA PE3 11 +NX_Q8NH85 324 36708 8.61 7 Cell membrane NA PE3 11 +NX_Q8NH87 305 34071 8.14 7 Cell membrane NA PE3 11 +NX_Q8NH89 298 33542 7.55 7 Cell membrane NA PE5 11 +NX_Q8NH90 309 34627 8.42 7 Cell membrane NA PE2 11 +NX_Q8NH92 325 36707 8.79 7 Cell membrane NA PE3 11 +NX_Q8NH93 324 36633 9.36 7 Cell membrane NA PE2 9 +NX_Q8NH94 360 41046 9.01 7 Cell membrane NA PE3 9 +NX_Q8NH95 151 16702 8.4 3 Cell membrane NA PE5 9 +NX_Q8NHA4 323 36588 9.28 7 Cell membrane NA PE2 7 +NX_Q8NHA6 318 35283 8.66 7 Cell membrane NA PE5 6 +NX_Q8NHA8 337 36933 7.95 7 Cell membrane NA PE3 6 +NX_Q8NHB1 315 34857 8.92 7 Cell membrane NA PE3 5 +NX_Q8NHB7 308 35185 8.39 7 Cell membrane NA PE2 3 +NX_Q8NHB8 316 35763 8.37 7 Cell membrane NA PE2 3 +NX_Q8NHC4 309 34401 8.65 7 Cell membrane NA PE2 1 +NX_Q8NHC5 309 34307 8.41 7 Cell membrane NA PE3 1 +NX_Q8NHC6 308 34709 8.72 7 Cell membrane NA PE5 1 +NX_Q8NHC7 312 34815 8.71 7 Cell membrane NA PE3 1 +NX_Q8NHC8 308 34765 8.38 7 Cell membrane NA PE3 1 +NX_Q8NHE4 81 9184 8.8 2 Membrane NA PE2 7 +NX_Q8NHG7 77 8443 9.06 0 Smooth endoplasmic reticulum membrane;Membrane;Cell membrane;Golgi apparatus membrane NA PE1 11 +NX_Q8NHG8 242 24115 6.64 0 Endosome membrane;Lysosome membrane;Presynaptic cell membrane NA PE1 7 +NX_Q8NHH1 800 87612 9.08 0 Cilium basal body NA PE1 9 +NX_Q8NHH9 583 66229 5.3 2 Endoplasmic reticulum membrane NA PE1 2 +NX_Q8NHJ6 448 49356 6.19 1 Cell membrane NA PE1 19 +NX_Q8NHK3 375 40607 8.36 1 Cell membrane NA PE3 19 +NX_Q8NHL6 650 70819 5.69 1 Cell membrane;Secreted NA PE1 19 +NX_Q8NHM4 247 26537 5.64 0 Secreted NA PE5 7 +NX_Q8NHM5 1336 152615 8.85 0 Nucleoplasm;Nucleolus NA PE1 12 +NX_Q8NHP1 331 36964 6.27 0 NA NA PE1 1 +NX_Q8NHP6 518 59746 5.7 1 Endoplasmic reticulum;Cell membrane NA PE1 X +NX_Q8NHP7 514 58335 5.5 0 Cytoplasm NA PE1 15 +NX_Q8NHP8 589 65472 6.34 0 Lysosome lumen NA PE1 12 +NX_Q8NHQ1 597 69752 5.52 0 Centrosome;Cytosol;Nucleoplasm NA PE1 3 +NX_Q8NHQ8 419 48327 6.21 0 Cytosol;Mitochondrion NA PE1 12 +NX_Q8NHQ9 600 68547 9.32 0 Cytosol;Nucleus;Nucleolus NA PE1 12 +NX_Q8NHR7 220 25316 7.12 0 Nucleus;Nucleolus;Telomere;Nucleus inner membrane;Centrosome NA PE1 15 +NX_Q8NHR9 129 14319 8.76 0 Cytoskeleton NA PE1 2 +NX_Q8NHS0 232 25686 6 0 NA NA PE1 3 +NX_Q8NHS1 167 17984 7.56 4 Membrane;Nucleoplasm NA PE2 19 +NX_Q8NHS2 421 47305 6.56 0 Cytoplasm NA PE1 8 +NX_Q8NHS3 518 57628 6.41 12 Endosome;Nucleoplasm;Cytoplasmic vesicle;Lysosome membrane Ceroid lipofuscinosis, neuronal, 7;Macular dystrophy with central cone involvement PE1 4 +NX_Q8NHS4 586 67250 6.09 0 Centrosome;Nucleolus NA PE1 2 +NX_Q8NHS9 363 41318 9.45 0 Chromosome NA PE1 17 +NX_Q8NHU0 189 21331 9.79 0 NA NA PE1 X +NX_Q8NHU2 1237 141349 5.76 0 Cilium axoneme NA PE1 20 +NX_Q8NHU3 365 42280 9.01 6 Golgi apparatus membrane;Cell membrane NA PE1 4 +NX_Q8NHU6 1098 123586 6.84 0 Cytoplasm Cataract 36 PE1 9 +NX_Q8NHV1 300 34509 6.1 0 Lipid droplet;Cytoplasm;Endoplasmic reticulum;Golgi apparatus;Cytoplasmic vesicle;Cytosol NA PE1 7 +NX_Q8NHV4 660 71966 8.15 0 Centrosome NA PE1 12 +NX_Q8NHV5 167 18250 8.6 0 NA NA PE2 16 +NX_Q8NHV9 184 20542 5.77 0 Nucleus NA PE1 X +NX_Q8NHW3 353 36982 7.49 0 Nucleus NA PE1 8 +NX_Q8NHW4 92 10166 5.13 0 Secreted NA PE1 17 +NX_Q8NHW5 317 34364 5.41 0 NA NA PE5 2 +NX_Q8NHW6 89 9939 4.47 0 Secreted NA PE2 2 +NX_Q8NHX4 192 20901 10.11 0 NA NA PE1 2 +NX_Q8NHX9 752 85243 6.65 12 Lysosome membrane;Nucleolus NA PE1 11 +NX_Q8NHY0 566 63258 8.79 1 Golgi apparatus membrane NA PE1 17 +NX_Q8NHY2 731 80474 6.41 0 Cytoplasm;Nucleus speckle NA PE1 1 +NX_Q8NHY3 880 96520 9.3 0 Cytoskeleton NA PE1 17 +NX_Q8NHY5 278 30982 9.49 0 Nucleoplasm;Cytosol NA PE1 6 +NX_Q8NHY6 868 98705 9.44 0 Nucleus;Nucleoplasm;Cytosol NA PE1 19 +NX_Q8NHZ7 208 22994 11.53 0 NA NA PE2 19 +NX_Q8NHZ8 85 9777 6.32 0 Nucleus;Nucleoplasm NA PE1 9 +NX_Q8NI08 942 106162 5.43 0 Cytoplasm;Golgi apparatus;Nucleus;Nucleus;Nucleus NA PE1 6 +NX_Q8NI17 732 82954 6.75 1 Cytoplasmic vesicle;Nucleoplasm;Cell membrane;Presynaptic cell membrane;Axon Amyloidosis, primary localized cutaneous, 2 PE1 5 +NX_Q8NI22 146 16390 4.51 0 Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum;Golgi apparatus Factor V and factor VIII combined deficiency 2 PE1 2 +NX_Q8NI27 1593 182775 8.67 0 Nucleoplasm;Nucleus speckle;Nucleus Mental retardation, X-linked 12 PE1 X +NX_Q8NI28 216 22304 11.7 1 Membrane NA PE5 7 +NX_Q8NI29 283 31623 8.92 0 Nucleoplasm NA PE1 19 +NX_Q8NI32 183 20656 7.97 0 Cell membrane NA PE1 2 +NX_Q8NI35 1801 196368 4.84 0 Microtubule organizing center;Cell junction;Cytosol;Perinuclear region;Tight junction;Apical cell membrane;Cell membrane NA PE1 1 +NX_Q8NI36 951 105322 7.33 0 Nucleolus;Nucleolus Glaucoma 1, open angle, G PE1 5 +NX_Q8NI37 304 32646 4.99 0 Cytosol;Cell membrane NA PE1 12 +NX_Q8NI38 313 33481 6.9 0 Mitochondrion;Nucleus NA PE1 19 +NX_Q8NI51 663 75747 8.58 0 Cytoplasm;Nucleus NA PE1 20 +NX_Q8NI60 647 71950 6.51 1 Mitochondrion;Membrane;Mitochondrion Coenzyme Q10 deficiency, primary, 4 PE1 1 +NX_Q8NI77 898 102281 9.09 0 Nucleus;Cytoskeleton;Ruffle;Cytoskeleton;Cytoplasm;Nucleus;Centrosome NA PE1 11 +NX_Q8NI99 470 51694 8.78 0 Secreted NA PE1 19 +NX_Q8TA86 221 26107 9.8 0 Nucleus;Nucleus;Cytosol Retinitis pigmentosa 9 PE1 7 +NX_Q8TA94 476 55434 9.34 0 Nucleus NA PE1 19 +NX_Q8TAA1 199 22427 6.1 0 Secreted NA PE2 14 +NX_Q8TAA3 256 28530 9.07 0 Nucleus;Cytoplasm NA PE1 18 +NX_Q8TAA5 225 25431 7.63 0 Mitochondrion matrix;Mitochondrion NA PE1 5 +NX_Q8TAA9 524 59975 8.94 4 Cell membrane;Cell membrane Neural tube defects;Sacral defect with anterior meningocele PE1 1 +NX_Q8TAB3 1148 126253 5.19 1 Cytosol;Cell membrane Epileptic encephalopathy, early infantile, 9 PE1 X +NX_Q8TAB5 229 24968 5.17 0 Cytosol;Nucleoplasm NA PE1 1 +NX_Q8TAB7 109 13192 9.51 0 NA NA PE5 8 +NX_Q8TAC1 157 17762 6.37 0 Nucleoplasm NA PE1 5 +NX_Q8TAC2 188 20756 6.91 0 Cytosol NA PE1 19 +NX_Q8TAC9 235 26104 8.8 4 Golgi apparatus;Synaptic vesicle membrane;Cell membrane;Recycling endosome membrane;Golgi apparatus membrane;trans-Golgi network membrane NA PE1 15 +NX_Q8TAD2 202 21893 9.25 0 Secreted NA PE1 13 +NX_Q8TAD4 765 84047 6.87 16 Golgi apparatus;Nucleus;trans-Golgi network membrane NA PE1 5 +NX_Q8TAD7 63 6407 6.11 0 Cytoplasmic vesicle NA PE1 12 +NX_Q8TAD8 396 45778 10 0 Nucleoplasm;Cytosol;Nucleus Psychomotor retardation, epilepsy, and craniofacial dysmorphism PE1 1 +NX_Q8TAE6 165 17843 5.09 0 Cytoplasm;Membrane NA PE1 6 +NX_Q8TAE7 436 49593 8.6 6 Cytosol;Cell membrane;Cytoplasm NA PE1 2 +NX_Q8TAE8 222 25384 10.03 0 Mitochondrion;Nucleus;Mitochondrion NA PE1 19 +NX_Q8TAF3 677 76210 6.59 0 Cytoplasmic vesicle;Nucleus;Late endosome;Cytoplasm;Lysosome NA PE1 3 +NX_Q8TAF5 88 10021 11.38 0 NA NA PE5 1 +NX_Q8TAF7 563 66214 8.61 0 Golgi apparatus;Nucleolus;Nucleus;Nucleus NA PE1 19 +NX_Q8TAF8 219 24201 6.69 4 Cell membrane Deafness, autosomal recessive, 67 PE1 6 +NX_Q8TAG5 236 25833 8.39 0 Secreted NA PE1 7 +NX_Q8TAG6 207 22584 10.05 0 Nucleus;Nucleus speckle;Cytoplasm NA PE1 8 +NX_Q8TAG9 804 93722 5.82 0 Midbody ring;Growth cone;Nucleoplasm;Perinuclear region;Cytoplasm;Cytoplasmic vesicle NA PE1 10 +NX_Q8TAI1 123 13402 12.04 0 NA NA PE5 18 +NX_Q8TAI7 183 20682 6.24 0 Centrosome;Nucleus;Endomembrane system;Cytoplasm NA PE1 12 +NX_Q8TAK5 448 48650 5.15 0 Cytosol;Nucleus;Nucleoplasm NA PE1 1 +NX_Q8TAK6 271 27905 9.71 0 Nucleus NA PE1 21 +NX_Q8TAL5 461 52222 9.01 0 Cytosol NA PE1 9 +NX_Q8TAL6 211 24273 5.3 0 Endoplasmic reticulum;Golgi apparatus;Secreted NA PE1 11 +NX_Q8TAM1 723 80838 7.95 0 Cilium;Nucleoplasm Bardet-Biedl syndrome 10 PE1 12 +NX_Q8TAM2 541 61534 6.33 0 Centrosome;Cilium membrane;Cytoplasm;Centriolar satellite;Cilium Retinitis pigmentosa 51;Bardet-Biedl syndrome 8 PE1 14 +NX_Q8TAM6 284 32783 4.75 0 Cytoskeleton NA PE1 2 +NX_Q8TAP4 145 16594 8.6 0 NA NA PE1 12 +NX_Q8TAP6 659 74413 6.31 0 Centriole;Centrosome NA PE1 18 +NX_Q8TAP8 253 27953 8.9 0 Nucleoplasm NA PE1 7 +NX_Q8TAP9 179 19147 10.23 0 Nucleus;Golgi apparatus;Cytoplasmic vesicle;Cytoplasm;Centrosome;Nucleoplasm Trichothiodystrophy 4, non-photosensitive PE1 7 +NX_Q8TAQ2 1214 132879 5.49 0 Nucleus;Nucleoplasm NA PE1 12 +NX_Q8TAQ5 688 80247 8.94 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8TAQ9 357 40503 7.68 1 Golgi apparatus;Nucleus envelope;Nucleus inner membrane;Membrane NA PE1 7 +NX_Q8TAS1 419 46546 5.59 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 1 +NX_Q8TAT2 258 27590 9.96 0 Secreted NA PE1 10 +NX_Q8TAT5 605 67769 9.23 0 Nucleoplasm;Nucleus NA PE1 4 +NX_Q8TAT6 608 68120 5.94 0 Nucleus;Cytosol;Cytosol;Endoplasmic reticulum;Nucleoplasm NA PE1 17 +NX_Q8TAT8 98 10982 11.47 0 NA NA PE5 11 +NX_Q8TAU0 364 38406 7.19 0 Nucleus;Cytosol;Nucleolus NA PE1 10 +NX_Q8TAU3 575 65733 9.29 0 Nucleus NA PE1 19 +NX_Q8TAV0 307 35049 9.33 0 NA NA PE1 1 +NX_Q8TAV3 490 53844 9.03 0 Endoplasmic reticulum lumen;Cell membrane NA PE1 7 +NX_Q8TAV4 291 32135 8.83 1 Cell membrane NA PE1 13 +NX_Q8TAV5 145 15559 7.73 0 Cytosol;Secreted NA PE2 11 +NX_Q8TAW3 534 60972 9.06 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q8TAX0 266 29611 9.77 0 Nucleus;Nucleus NA PE1 2 +NX_Q8TAX7 377 39159 8.99 0 Secreted Asthma PE1 4 +NX_Q8TAX9 411 46786 5.15 0 Cytoplasm;Cytosol;Cell membrane NA PE1 17 +NX_Q8TAY7 271 28710 10.08 0 NA NA PE2 1 +NX_Q8TAZ6 248 27496 9.91 3 Membrane NA PE1 16 +NX_Q8TB03 319 36670 5.92 0 Cytosol NA PE1 X +NX_Q8TB05 177 18954 6.13 0 Nucleus;Cell junction;Cytosol NA PE1 16 +NX_Q8TB22 786 87899 7.08 0 Secreted;Nucleoplasm NA PE1 17 +NX_Q8TB24 985 107854 6.17 0 Cytoplasm;Cytoplasmic vesicle;Early endosome NA PE1 14 +NX_Q8TB33 94 10359 11.18 0 NA NA PE4 X +NX_Q8TB36 358 41346 8.48 2 Cytosol;Mitochondrion;Mitochondrion outer membrane;Cytoplasm Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease 4A;Charcot-Marie-Tooth disease, recessive, intermediate type, A;Charcot-Marie-Tooth disease 2K PE1 8 +NX_Q8TB37 319 34083 9.17 0 Mitochondrion;Mitochondrion Mitochondrial complex I deficiency PE1 14 +NX_Q8TB40 342 38794 7.13 0 Nucleus NA PE1 14 +NX_Q8TB45 409 46294 8.29 0 Nucleus;Cytoplasm;Mitochondrion;Nucleoplasm NA PE1 8 +NX_Q8TB52 745 82304 5.21 0 Cytoskeleton NA PE1 6 +NX_Q8TB61 432 47515 9.32 9 Golgi apparatus membrane;Cytoplasmic vesicle NA PE1 6 +NX_Q8TB68 274 30930 8.91 1 Nucleoplasm;Cell membrane;Cytosol;Nucleus;Cell membrane;Postsynaptic cell membrane;Perinuclear region;Synapse;Dendrite NA PE1 5 +NX_Q8TB69 540 63020 9.48 0 Nucleus;Nucleolus NA PE1 18 +NX_Q8TB72 1066 114216 6.61 0 Cytosol;Cytoplasm;Cytoplasmic granule;Perinuclear region NA PE1 2 +NX_Q8TB73 568 64673 9.07 0 Cytoplasmic vesicle;Secreted NA PE1 4 +NX_Q8TB92 370 39514 6.12 0 Cytosol;Endoplasmic reticulum membrane NA PE1 6 +NX_Q8TB96 612 68108 5.15 1 Secreted;Membrane;Cytoskeleton NA PE1 16 +NX_Q8TBA6 731 83024 5.6 1 Golgi apparatus membrane;Golgi apparatus NA PE1 14 +NX_Q8TBB0 222 25691 8.99 0 Nucleus;Centrosome;Nucleus NA PE1 4 +NX_Q8TBB1 728 80629 6.67 0 Cytoplasm;Cytosol;Cell junction NA PE1 4 +NX_Q8TBB5 520 57892 5.52 0 Nucleolus NA PE1 16 +NX_Q8TBB6 771 84052 5.13 15 Lysosome membrane Retinitis pigmentosa 68 PE1 3 +NX_Q8TBC3 707 76344 8.58 0 Cell junction;Lysosome NA PE1 19 +NX_Q8TBC4 463 51852 5.3 0 Nucleus;Centrosome;Cell membrane;Nucleoplasm;Cytosol NA PE1 3 +NX_Q8TBC5 510 54804 4.76 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8TBE0 780 84652 9.27 0 Nucleus;Chromosome;Nucleoplasm NA PE1 15 +NX_Q8TBE1 160 18976 6.17 3 Postsynaptic cell membrane NA PE2 1 +NX_Q8TBE3 224 25275 5.33 1 Membrane NA PE2 5 +NX_Q8TBE7 412 46422 6.99 10 Endosome;Cytosol;Cell membrane NA PE1 3 +NX_Q8TBE9 248 27813 6.01 0 Nucleus membrane NA PE1 20 +NX_Q8TBF2 198 21223 6.2 0 Cytosol;Cytosol;Nucleoplasm;Cell membrane NA PE1 1 +NX_Q8TBF4 217 24592 8.69 0 Nucleoplasm NA PE1 12 +NX_Q8TBF5 258 28788 5.91 1 Cytosol;Endoplasmic reticulum membrane;Nucleoplasm NA PE1 3 +NX_Q8TBF8 368 42392 8.98 0 Nucleoplasm;Cytosol NA PE1 15 +NX_Q8TBG4 499 55671 8.32 0 Nucleus;Mitochondrion NA PE1 4 +NX_Q8TBG9 265 29166 6.07 4 Cell membrane;Golgi apparatus;Synaptic vesicle membrane;Synaptosome NA PE1 3 +NX_Q8TBH0 407 44379 9.33 0 Nucleoplasm;Cytosol NA PE1 19 +NX_Q8TBJ4 325 35795 7.04 6 Membrane;Nucleoplasm NA PE1 9 +NX_Q8TBJ5 459 48811 9.52 0 Nucleus NA PE2 3 +NX_Q8TBK2 473 53189 5.24 0 Cytosol;Nucleus;Nucleus NA PE1 16 +NX_Q8TBK6 192 20967 8.69 0 Nucleus;Nucleolus NA PE1 5 +NX_Q8TBM7 123 14243 9.7 3 Cell membrane;Nucleoplasm;Membrane NA PE1 10 +NX_Q8TBM8 379 42516 8.79 1 Nucleus membrane;Endoplasmic reticulum membrane NA PE1 4 +NX_Q8TBN0 382 42637 6.07 0 Cytosol NA PE1 11 +NX_Q8TBP0 767 86372 5.55 0 Cytoskeleton NA PE1 17 +NX_Q8TBP5 190 19954 5.92 1 Cytosol;Membrane;Golgi apparatus NA PE1 5 +NX_Q8TBP6 338 38125 9.43 6 Mitochondrion inner membrane NA PE1 7 +NX_Q8TBQ9 72 8060 9.26 1 Golgi apparatus membrane NA PE1 5 +NX_Q8TBR4 150 17020 5.92 0 NA NA PE5 7 +NX_Q8TBR5 109 12399 12.01 0 NA NA PE5 19 +NX_Q8TBR7 257 29383 9.57 7 Cell membrane NA PE1 17 +NX_Q8TBX8 421 47300 6.36 0 Cytoplasmic vesicle;Cytoplasm;Membrane NA PE1 12 +NX_Q8TBY0 533 60023 7.56 0 NA NA PE1 4 +NX_Q8TBY8 1022 119033 5.94 0 Endoplasmic reticulum NA PE1 16 +NX_Q8TBY9 1149 129952 4.99 0 Cytosol;Cell membrane;Golgi apparatus;Cilium axoneme NA PE1 12 +NX_Q8TBZ0 833 96726 5.88 0 Nucleus NA PE1 4 +NX_Q8TBZ2 947 108153 7.13 0 Cytoplasmic vesicle;Cytoplasm;Membrane NA PE1 17 +NX_Q8TBZ3 569 62893 8.26 0 NA NA PE1 14 +NX_Q8TBZ5 544 62920 9.02 0 Nucleus NA PE1 3 +NX_Q8TBZ6 339 39719 7.29 0 Cytosol;Nucleoplasm;Nucleolus;Nucleolus;Cytoskeleton;Nucleus Microcephaly, short stature, and impaired glucose metabolism 1 PE1 4 +NX_Q8TBZ8 553 63735 8.99 0 Golgi apparatus;Nucleus NA PE1 19 +NX_Q8TBZ9 253 29483 7.21 0 Nucleoplasm;Mitochondrion NA PE1 7 +NX_Q8TC05 714 80735 9.16 0 Centrosome;Centrosome;Nucleus;Cytosol;Centriole NA PE1 12 +NX_Q8TC07 691 79491 5.44 0 Cytoplasm;Mitochondrion;Cytosol;Cytoplasm NA PE1 12 +NX_Q8TC12 318 35386 9.05 1 Endoplasmic reticulum membrane Retinal dystrophy, juvenile cataracts, and short stature syndrome PE1 14 +NX_Q8TC17 118 13442 7.89 0 NA NA PE2 17 +NX_Q8TC20 777 90250 5.21 0 NA NA PE1 6 +NX_Q8TC21 504 58513 9.19 0 Mitochondrion;Nucleolus;Nucleus NA PE1 8 +NX_Q8TC26 289 31469 7.06 6 Synaptic vesicle membrane;Early endosome membrane NA PE1 2 +NX_Q8TC27 787 87948 5.39 1 Nucleus;Cytoplasmic vesicle;Membrane NA PE1 8 +NX_Q8TC29 256 29454 9.34 0 Flagellum NA PE1 10 +NX_Q8TC36 379 43081 8.61 1 Nucleus inner membrane Spermatogenic failure 16 PE1 20 +NX_Q8TC41 542 59372 7.65 1 Membrane NA PE1 6 +NX_Q8TC44 478 53668 6.79 0 Centriole;Cilium basal body;Spindle pole Cone-rod dystrophy 20 PE1 12 +NX_Q8TC56 605 64756 9.52 0 Nucleus NA PE1 5 +NX_Q8TC57 530 59386 6.4 0 Cytoplasm;Mitochondrion;Nucleolus NA PE1 2 +NX_Q8TC59 973 109849 9.16 0 Cytoplasm NA PE1 8 +NX_Q8TC71 538 61109 8.93 0 Mitochondrion outer membrane;Cytoplasm NA PE1 4 +NX_Q8TC76 370 40728 9.45 0 Mitochondrion;Cytoplasm;Centrosome;Cytosol NA PE1 8 +NX_Q8TC84 345 38341 8.93 0 Nucleoplasm;Cytosol;Nucleus NA PE1 10 +NX_Q8TC90 406 46482 4.64 0 NA NA PE1 12 +NX_Q8TC92 643 73348 5.4 0 Extracellular space;Cell membrane;Cell membrane NA PE1 13 +NX_Q8TC94 416 45627 6.61 0 Cytoskeleton NA PE1 19 +NX_Q8TC99 324 35921 5.01 0 NA NA PE1 17 +NX_Q8TCA0 184 20509 6.11 0 Nucleoplasm;Cytosol NA PE1 10 +NX_Q8TCB0 444 50491 6.44 0 Nucleoplasm;Cytoplasm NA PE1 1 +NX_Q8TCB6 317 35271 8.71 7 Cell membrane NA PE2 11 +NX_Q8TCB7 284 33251 5.85 0 Cytoplasmic vesicle NA PE1 3 +NX_Q8TCC3 161 18546 10.01 0 Mitochondrion NA PE1 2 +NX_Q8TCC7 542 59856 9.07 11 Basolateral cell membrane NA PE1 11 +NX_Q8TCD1 76 8669 9.24 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 18 +NX_Q8TCD5 201 23383 6.18 0 Cytoplasm;Cytosol NA PE1 17 +NX_Q8TCD6 241 27769 6.31 0 Cytoplasmic vesicle NA PE1 2 +NX_Q8TCE6 357 40513 6.15 0 NA NA PE1 10 +NX_Q8TCE9 139 16094 6.4 0 Nucleus NA PE1 19 +NX_Q8TCF1 268 30787 7.14 0 Centrosome;Cytosol NA PE1 8 +NX_Q8TCG1 905 102185 5.85 1 Cell membrane;Cytosol;Membrane;Cytoplasm NA PE1 3 +NX_Q8TCG2 481 54744 5.71 0 Cytosol;Cytoplasm;Membrane NA PE1 4 +NX_Q8TCG5 803 90989 8.33 2 Centrosome;Mitochondrion outer membrane;Synapse;Dendrite;Axon;Endoplasmic reticulum Spastic paraplegia 73, autosomal dominant PE1 19 +NX_Q8TCH9 128 14227 7.15 0 NA NA PE2 22 +NX_Q8TCI5 191 21973 9.91 0 Cytoplasmic vesicle;trans-Golgi network;Cytoplasm NA PE1 1 +NX_Q8TCJ0 367 43313 8.35 0 Nucleus NA PE1 8 +NX_Q8TCJ2 826 93674 9.04 11 Endoplasmic reticulum;Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1X PE1 3 +NX_Q8TCN5 953 105767 5.47 0 Nucleolus;Cytosol;Nucleus NA PE1 19 +NX_Q8TCP9 573 66276 5.82 1 Membrane NA PE1 7 +NX_Q8TCQ1 289 32308 8.76 2 Mitochondrion;trans-Golgi network membrane;Lysosome membrane;Cytoplasmic vesicle membrane;Late endosome membrane;Early endosome membrane;Cell membrane NA PE1 4 +NX_Q8TCS8 783 85951 7.87 0 Cytoplasm;Mitochondrion;Mitochondrion;Mitochondrion intermembrane space Combined oxidative phosphorylation deficiency 13;Deafness, autosomal recessive, 70 PE1 2 +NX_Q8TCT0 537 59977 8.54 0 Cytoplasm;Membrane;Cytoplasmic vesicle NA PE1 22 +NX_Q8TCT1 267 29713 7.64 0 NA NA PE1 17 +NX_Q8TCT6 385 42563 8.6 9 Cell membrane;Endoplasmic reticulum membrane;Cytoplasmic vesicle;Golgi apparatus;Membrane NA PE1 12 +NX_Q8TCT7 592 64644 8.67 9 Centrosome;Nucleoplasm;Cell membrane;Cell membrane;Lysosome membrane;Golgi apparatus membrane;Endosome membrane;Membrane NA PE1 19 +NX_Q8TCT8 520 58143 8.65 9 Cytoplasmic vesicle;Lysosome membrane;Membrane;Late endosome membrane NA PE1 15 +NX_Q8TCT9 377 41488 6 9 Endoplasmic reticulum;Endoplasmic reticulum;Endoplasmic reticulum membrane;Membrane;Cell membrane NA PE1 20 +NX_Q8TCU3 470 52114 9.08 12 Membrane NA PE2 8 +NX_Q8TCU4 4167 460965 5.87 0 Cytosol;Spindle pole;Cilium basal body;Centrosome;Cytoplasm Alstrom syndrome PE1 2 +NX_Q8TCU5 1115 125465 7.4 3 Cell membrane;Postsynaptic cell membrane;Postsynaptic density NA PE1 9 +NX_Q8TCU6 1659 186203 6.03 0 Cell membrane;Cytosol;Cytoplasm;Cytosol;Cytoplasmic vesicle NA PE1 20 +NX_Q8TCV5 224 24238 8.4 0 Secreted NA PE1 20 +NX_Q8TCW7 415 45530 7.92 1 Cytoplasmic vesicle membrane;Extracellular matrix NA PE2 3 +NX_Q8TCW9 393 44770 8.68 7 Cell membrane NA PE1 2 +NX_Q8TCX1 351 39625 7.1 0 Cytosol;Cytoplasm;Cilium;Cilium basal body;Cilium axoneme;Centrosome Short-rib thoracic dysplasia 15 with polydactyly PE1 2 +NX_Q8TCX5 695 76292 7.88 0 Nucleoplasm NA PE1 8 +NX_Q8TCY0 68 7880 9.49 1 Membrane NA PE3 21 +NX_Q8TCY5 172 19136 7.75 1 Cell membrane;Endoplasmic reticulum membrane Glucocorticoid deficiency 2 PE1 21 +NX_Q8TCY9 931 104987 6 0 Nucleus;Cytosol;Cytoplasm NA PE1 7 +NX_Q8TCZ2 262 27986 4.92 1 Cell membrane;Golgi apparatus;Cell membrane;Cell junction;Cell membrane;Golgi apparatus;Cytoskeleton NA PE1 X +NX_Q8TCZ7 52 5991 8.8 0 NA NA PE5 21 +NX_Q8TD06 166 19171 7.76 0 Endoplasmic reticulum;Endoplasmic reticulum NA PE1 7 +NX_Q8TD07 263 30122 8.45 1 Cytosol;Focal adhesion;Secreted;Membrane NA PE1 6 +NX_Q8TD08 544 59832 9.17 0 Cytosol;Nucleoplasm;Cell junction NA PE1 8 +NX_Q8TD10 442 51537 5.55 0 Cytosol NA PE1 14 +NX_Q8TD16 824 93533 5.35 0 Nucleus envelope;Nuclear pore complex;Cytoskeleton;Golgi apparatus;Cell membrane;Cytoplasm;Golgi apparatus;Cytosol Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant PE1 9 +NX_Q8TD17 642 71311 6.2 0 Nucleus;Nucleoplasm;Mitochondrion NA PE1 7 +NX_Q8TD19 979 107168 5.51 0 Cytoplasm;Nucleus;Mitochondrion Lethal congenital contracture syndrome 10;Nevus comedonicus;Arthrogryposis, Perthes disease, and upward gaze palsy PE1 14 +NX_Q8TD20 617 66966 8.66 12 Cell junction;Endomembrane system;Cell membrane;Perinuclear region NA PE1 6 +NX_Q8TD22 340 37124 9.4 4 Mitochondrion;Mitochondrion membrane;Nucleoplasm NA PE1 2 +NX_Q8TD23 568 66299 9.11 0 Nucleus NA PE1 19 +NX_Q8TD26 2715 305412 5.9 0 Nucleoplasm;Nucleus NA PE1 20 +NX_Q8TD30 523 57904 7.85 0 Mitochondrion Mental retardation, autosomal recessive 49 PE1 16 +NX_Q8TD31 782 88671 5.76 0 Cytosol;Nucleus;Cytoplasm NA PE1 6 +NX_Q8TD33 95 10414 4.55 0 Secreted NA PE3 11 +NX_Q8TD35 194 21508 10.61 0 NA NA PE1 20 +NX_Q8TD43 1214 134301 8.49 6 Golgi apparatus;Nucleoplasm;Cell membrane;Endoplasmic reticulum;Cell membrane Progressive familial heart block 1B PE1 19 +NX_Q8TD46 325 36620 8.19 1 Cell membrane;Secreted NA PE1 3 +NX_Q8TD47 263 29295 10.1 0 NA NA PE2 Y +NX_Q8TD55 490 53350 5.34 0 Cytosol;Cell membrane;Nucleoplasm NA PE1 15 +NX_Q8TD57 4116 470771 6.04 0 Cytoskeleton;Nucleus membrane;Cilium axoneme NA PE1 16 +NX_Q8TD84 2053 224463 8.43 1 Cell membrane;Synapse NA PE1 11 +NX_Q8TD86 181 20690 4.47 0 Cytoplasm;Nucleus NA PE2 1 +NX_Q8TD90 523 60378 5 0 NA NA PE2 X +NX_Q8TD91 643 71909 4.77 0 NA NA PE1 X +NX_Q8TD94 323 33124 8.26 0 Nucleus NA PE1 7 +NX_Q8TDB4 240 25390 4.4 1 Mitochondrion outer membrane;Mitochondrion;Mitochondrion NA PE1 4 +NX_Q8TDB6 740 83554 8.31 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm;Early endosome membrane;Lysosome membrane NA PE1 3 +NX_Q8TDB8 520 56320 8 12 Membrane NA PE1 12 +NX_Q8TDC0 251 27157 9.42 0 Z line NA PE1 5 +NX_Q8TDC3 778 85087 9.39 0 Cytoplasm;Nucleoplasm;Centrosome;Nucleus;Synapse NA PE1 19 +NX_Q8TDD1 881 98595 10.03 0 Golgi apparatus;Nucleolus;Nucleolus;Nucleus NA PE1 12 +NX_Q8TDD2 431 44994 8.67 0 Nucleus Osteogenesis imperfecta 12 PE1 12 +NX_Q8TDD5 553 64248 5.8 6 Nucleolus;Cytosol;Membrane;Late endosome membrane;Lysosome membrane;Cell membrane;Early endosome membrane;Autophagosome membrane NA PE1 1 +NX_Q8TDE3 154 17041 8.69 0 Secreted NA PE1 14 +NX_Q8TDF5 533 60191 6.61 1 Golgi apparatus;Postsynaptic density;Secreted;Cell membrane NA PE1 18 +NX_Q8TDF6 673 74882 8.34 0 Cell membrane;Cytoplasm NA PE1 19 +NX_Q8TDG2 376 41696 6.32 0 Cytoskeleton NA PE2 X +NX_Q8TDG4 1101 124131 6.17 0 Nucleus speckle;Nucleoplasm NA PE1 4 +NX_Q8TDH9 187 21609 7.14 0 Cytoplasmic vesicle NA PE1 6 +NX_Q8TDI0 1954 223050 5.82 0 Nucleus;Nucleoplasm;Nucleus speckle;Cytosol NA PE1 1 +NX_Q8TDI7 906 102610 9.5 6 Cell membrane NA PE2 20 +NX_Q8TDI8 760 87768 6.22 6 Cell membrane Deafness, autosomal dominant, 36;Deafness, autosomal recessive, 7 PE1 9 +NX_Q8TDJ6 3036 339641 5.93 0 Synaptic vesicle membrane Deafness, autosomal dominant, 71;Polyendocrine-polyneuropathy syndrome PE1 15 +NX_Q8TDL5 484 52442 6.72 0 Secreted NA PE1 20 +NX_Q8TDM0 211 22758 5.59 0 Cytoskeleton;Cytosol;Cytoplasm NA PE1 20 +NX_Q8TDM5 124 13004 5.49 0 Acrosome;Cell membrane NA PE1 19 +NX_Q8TDM6 1919 213868 7.1 0 Cell junction;Cell membrane;Cell junction;Cilium basal body;Postsynaptic density NA PE1 10 +NX_Q8TDN1 519 58979 6.23 6 Cell membrane NA PE1 16 +NX_Q8TDN2 545 62459 6.08 6 Cell membrane Cone dystrophy retinal 3B PE1 9 +NX_Q8TDN4 633 67599 9.32 0 Nucleus speckle;Nucleus;Cytoplasm NA PE1 18 +NX_Q8TDN6 353 41401 9.92 0 Nucleolus;Nucleolus;Nucleolus;Nucleus NA PE1 5 +NX_Q8TDN7 264 31095 6.64 7 Endoplasmic reticulum membrane NA PE2 19 +NX_Q8TDP1 164 17840 4.95 0 Nucleus;Nucleus Aicardi-Goutieres syndrome 3 PE1 11 +NX_Q8TDQ0 301 33394 5.54 1 Membrane;Cell junction;Nucleoplasm NA PE1 5 +NX_Q8TDQ1 290 32335 5.45 1 Cell membrane NA PE1 17 +NX_Q8TDQ7 276 31085 6.45 0 Cytoplasm NA PE1 4 +NX_Q8TDR0 691 78632 7.95 0 Cilium;Cilium axoneme;Cilium basal body;Cytoskeleton Senior-Loken syndrome 9 PE1 2 +NX_Q8TDR2 534 58051 9.78 0 Nucleus;Nucleus;Nucleolus;Cytoplasm;Nucleus NA PE1 20 +NX_Q8TDR4 215 23863 9.71 0 Nucleus NA PE1 21 +NX_Q8TDS4 363 41850 9.34 7 Cell membrane NA PE1 12 +NX_Q8TDS5 423 45811 9.75 7 Cell membrane NA PE1 2 +NX_Q8TDS7 321 36118 9.25 7 Cell membrane NA PE2 11 +NX_Q8TDT2 470 50962 4.59 7 Cell membrane NA PE2 11 +NX_Q8TDU5 208 23857 9.14 5 Cell membrane NA PE5 1 +NX_Q8TDU6 330 35248 9.62 7 Cell membrane NA PE2 2 +NX_Q8TDU9 374 41141 10.32 7 Cell membrane NA PE1 1 +NX_Q8TDV0 419 46637 6.13 7 Cell membrane NA PE2 5 +NX_Q8TDV2 347 38288 8.81 7 Cell membrane NA PE2 2 +NX_Q8TDV5 335 36889 9.1 7 Cell membrane NA PE1 X +NX_Q8TDW0 803 92450 7.54 4 Cell membrane;Golgi apparatus;Endoplasmic reticulum membrane NA PE1 1 +NX_Q8TDW4 575 64779 7.26 2 Centrosome;Membrane NA PE1 1 +NX_Q8TDW5 730 81523 8.96 0 Cytoskeleton;Cytosol;Nucleoplasm;Membrane NA PE1 X +NX_Q8TDW7 4589 505523 4.71 1 Membrane NA PE1 11 +NX_Q8TDX5 336 38035 6.52 0 Cytosol NA PE1 2 +NX_Q8TDX6 532 61294 8.63 1 Golgi stack membrane;Cytoskeleton NA PE1 8 +NX_Q8TDX7 302 34551 8.49 0 Centrosome;Nucleus;Nucleoplasm;Cytoplasm;Spindle pole NA PE1 1 +NX_Q8TDX9 2849 315435 6.64 11 Cilium membrane Heterotaxy, visceral, 8, autosomal PE1 7 +NX_Q8TDY2 1594 183091 5.3 0 Cytosol;Nucleus;Cytoplasm;Cytosol;Preautophagosomal structure;Nucleus membrane NA PE1 8 +NX_Q8TDY3 377 41702 5.28 0 Cytoskeleton NA PE1 1 +NX_Q8TDY4 903 99155 5.98 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle NA PE1 1 +NX_Q8TDY8 1250 134210 5.81 1 Nucleoplasm;Cytosol;Cell membrane NA PE1 15 +NX_Q8TDZ2 1067 117875 6 0 Cytoskeleton;Cytoplasm;Midbody NA PE1 6 +NX_Q8TE02 316 34841 4.81 0 Nucleus;Cytosol;Cytoplasm NA PE1 17 +NX_Q8TE04 598 64339 7.51 0 Cytoplasm NA PE1 10 +NX_Q8TE12 382 42747 7.03 0 Nucleus;Nucleoplasm;Golgi apparatus;Cytoplasmic vesicle NA PE1 1 +NX_Q8TE23 839 95183 6.08 7 Cell membrane NA PE3 1 +NX_Q8TE49 926 100677 8.68 0 Nucleus;Cytoplasm;Nucleolus;Cytosol NA PE1 15 +NX_Q8TE54 656 72213 8.17 11 Recycling endosome membrane NA PE1 8 +NX_Q8TE56 1095 121127 8.47 0 Nucleus;Extracellular matrix Weill-Marchesani-like syndrome PE2 15 +NX_Q8TE57 1224 136203 8.99 0 Extracellular matrix NA PE1 5 +NX_Q8TE58 950 103287 8.94 0 Cytosol;Extracellular matrix NA PE1 11 +NX_Q8TE59 1207 134048 7.8 0 Cytoplasmic vesicle;Midbody;Extracellular matrix NA PE1 5 +NX_Q8TE60 1221 135167 8.91 0 Extracellular matrix Microcornea, myopic chorioretinal atrophy, and telecanthus PE1 16 +NX_Q8TE67 593 66861 8.09 0 Cytoplasmic vesicle;Cytoplasm NA PE1 1 +NX_Q8TE68 723 80251 5.76 0 Cytosol;Cytoplasm NA PE1 19 +NX_Q8TE69 158 17921 6.43 0 NA NA PE1 X +NX_Q8TE73 4624 529021 5.79 0 Cilium axoneme Ciliary dyskinesia, primary, 3 PE1 5 +NX_Q8TE76 937 106348 7.22 0 Nucleoplasm;Nucleus NA PE1 X +NX_Q8TE77 659 72996 5.19 0 Nucleus speckle;Cytosol;Cytoskeleton;Cell membrane;Cytoskeleton;Nucleus NA PE1 11 +NX_Q8TE82 1336 146961 5.85 0 Nucleolus;Cytosol;Nucleus NA PE1 4 +NX_Q8TE85 626 70345 6.4 0 Nucleus;Nucleoplasm Van der Woude syndrome 2 PE1 1 +NX_Q8TE96 717 79476 4.93 0 Nucleus;Cell membrane;Cytosol NA PE1 2 +NX_Q8TE99 480 55240 9.17 1 Golgi apparatus membrane NA PE1 3 +NX_Q8TEA1 469 51770 8.18 0 Golgi apparatus NA PE1 10 +NX_Q8TEA7 893 100679 6.12 0 Cytoplasm;Nucleolus;Nucleoplasm;Spindle;Midbody Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 PE1 4 +NX_Q8TEA8 209 23424 8.35 0 Cytoplasm;Nucleolus;Cytosol;Nucleus NA PE1 20 +NX_Q8TEB1 546 61670 5.97 0 Nucleoplasm NA PE1 14 +NX_Q8TEB7 428 46521 5.92 1 Endomembrane system;Cytoskeleton;Perinuclear region NA PE1 X +NX_Q8TEB9 315 35823 8.47 4 Endoplasmic reticulum membrane;Membrane;Mitochondrion;Endoplasmic reticulum NA PE1 2 +NX_Q8TEC5 729 79320 9.96 0 Nucleoplasm NA PE1 5 +NX_Q8TED0 518 58415 9.18 0 Endoplasmic reticulum;Nucleolus;Nucleolus NA PE1 5 +NX_Q8TED1 209 23881 9.41 1 Cytoskeleton;Cytosol;Membrane NA PE1 5 +NX_Q8TED4 501 54436 6.36 12 Endoplasmic reticulum membrane NA PE1 11 +NX_Q8TED9 768 86432 6.38 0 Cytoplasm;Podosome;Invadopodium NA PE1 5 +NX_Q8TEE9 199 20873 7.64 0 Cytoplasm;Nucleus;Nucleus NA PE1 7 +NX_Q8TEF2 133 14519 8.75 1 Membrane NA PE2 10 +NX_Q8TEH3 1009 110577 6.51 0 Presynaptic cell membrane;Cytoplasmic vesicle;Cytosol;Clathrin-coated vesicle membrane;Nucleoplasm NA PE1 9 +NX_Q8TEJ3 882 92776 9.09 0 Nucleoplasm;Cytosol;Centrosome NA PE1 2 +NX_Q8TEK3 1739 184853 9.39 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q8TEL6 797 90852 7.54 0 Cytosol NA PE1 20 +NX_Q8TEM1 1887 205111 6.33 1 Nuclear pore complex;Nucleus membrane;Endoplasmic reticulum membrane NA PE1 3 +NX_Q8TEP8 1941 213146 6.09 0 Cytosol;Centriole;Centrosome NA PE1 18 +NX_Q8TEQ0 813 91254 5.86 0 NA NA PE1 16 +NX_Q8TEQ6 1508 168589 6.17 0 Cytosol;Cytoplasm;Gem;Nucleus;Nucleoplasm NA PE1 5 +NX_Q8TEQ8 1089 118699 8.38 14 Nucleolus;Endoplasmic reticulum membrane;Nucleus Hyperphosphatasia with mental retardation syndrome 2 PE1 9 +NX_Q8TER0 1413 152204 6.59 0 Secreted NA PE1 2 +NX_Q8TER5 1519 164658 5.8 0 Cytoplasm NA PE1 14 +NX_Q8TES7 1133 125446 6.62 0 Cell junction;Spindle pole;Centrosome;Centriole NA PE1 17 +NX_Q8TET4 914 104334 5.82 0 Cytoskeleton;Nucleoplasm NA PE1 15 +NX_Q8TEU7 1601 179423 5.98 0 Centrosome;Cytosol;Cytoplasm;Cell membrane NA PE1 5 +NX_Q8TEU8 576 63941 5.85 0 Secreted NA PE1 17 +NX_Q8TEV8 140 15285 10.67 0 NA NA PE2 17 +NX_Q8TEV9 937 105022 5.36 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 17 +NX_Q8TEW0 1356 151423 7.41 0 Adherens junction;Cell membrane;Cell junction;Cytoplasm;Endomembrane system;Cell junction;Tight junction;Cell cortex;Cytoskeleton NA PE1 10 +NX_Q8TEW6 326 37028 8.37 0 Cytoskeleton;Cytoplasmic vesicle;Cytoskeleton NA PE1 16 +NX_Q8TEW8 1205 132494 8.54 0 Endomembrane system;Cell junction;Cell junction;Tight junction NA PE1 2 +NX_Q8TEX9 1081 118715 4.88 0 Nucleus;Cytosol;Cytoplasm NA PE1 14 +NX_Q8TEY5 395 43432 5.28 1 Nucleus;Endoplasmic reticulum membrane;Golgi apparatus membrane;Nucleoplasm;Nucleus membrane;Mitochondrion NA PE1 1 +NX_Q8TEY7 942 106727 5.69 0 Perinuclear region;Centrosome;Golgi apparatus;Nucleoplasm;Golgi apparatus NA PE1 1 +NX_Q8TEZ7 354 40464 8.69 7 Cell membrane;Cell membrane;Golgi apparatus NA PE1 6 +NX_Q8TF01 805 92577 10.02 0 Cytosol;Nucleus speckle;Nucleus speckle NA PE1 6 +NX_Q8TF05 950 107004 4.64 0 Nucleoplasm NA PE1 18 +NX_Q8TF08 81 9077 9.74 1 Mitochondrion inner membrane NA PE2 4 +NX_Q8TF09 96 10855 6.91 0 Cytoskeleton NA PE1 16 +NX_Q8TF17 1288 144777 5.95 0 Nucleoplasm;Cytosol Mononeuropathy of the median nerve mild;Charcot-Marie-Tooth disease 4C PE1 5 +NX_Q8TF20 911 105084 9.55 0 Nucleus NA PE1 4 +NX_Q8TF21 1146 124187 4.98 0 Cytosol;Cytoskeleton NA PE1 19 +NX_Q8TF27 550 60549 7.82 0 NA NA PE2 10 +NX_Q8TF30 809 90924 6.67 0 Cytoplasm;Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;Cytoplasmic vesicle membrane;cis-Golgi network NA PE1 15 +NX_Q8TF32 576 67217 9.03 0 Nucleus NA PE1 19 +NX_Q8TF39 744 85098 8.88 0 Nucleolus;Nucleus NA PE1 9 +NX_Q8TF40 1166 130555 5.33 0 Cytoplasm NA PE1 5 +NX_Q8TF42 649 72696 6.48 0 Cell membrane;Cytoplasm;Nucleus NA PE1 11 +NX_Q8TF44 421 44576 9.75 0 Cytoplasmic vesicle NA PE1 19 +NX_Q8TF45 676 77858 8.75 0 Nucleus NA PE1 19 +NX_Q8TF46 1054 120787 6.09 0 Cytosol;Centrosome;Cytoplasm;Cell membrane NA PE1 15 +NX_Q8TF47 636 73031 8.37 0 Cell membrane;Nucleus;Cytoplasmic vesicle;Centrosome NA PE1 16 +NX_Q8TF50 670 73622 6.01 0 Golgi apparatus;Nucleus;Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_Q8TF61 875 94496 8.6 0 Nucleus;Cell membrane;Cytosol NA PE1 2 +NX_Q8TF62 1192 135868 6.56 10 Nucleoplasm;Golgi apparatus;Cell membrane;Cytoplasmic vesicle NA PE1 15 +NX_Q8TF63 244 26704 9.97 0 Nucleus;Cytoplasm NA PE1 5 +NX_Q8TF64 312 33982 5.5 0 Nucleus;Nucleoplasm;Golgi apparatus Deafness, autosomal recessive, 15 PE1 19 +NX_Q8TF65 315 34354 6.07 0 Cytosol;Nucleus;Cytoplasm NA PE1 1 +NX_Q8TF66 581 64366 6.24 1 Cytoplasmic vesicle;Cell membrane;Membrane NA PE1 3 +NX_Q8TF68 577 63219 9.18 0 Nucleus;Nucleoplasm NA PE1 12 +NX_Q8TF71 515 55493 7.87 12 Cell membrane;Basolateral cell membrane;Cytoplasmic vesicle;Cell junction NA PE1 6 +NX_Q8TF72 1996 216857 7.87 0 Cytoskeleton;Adherens junction NA PE1 4 +NX_Q8TF74 440 46289 10.93 0 Nucleoplasm;Cytoskeleton NA PE1 17 +NX_Q8TF76 798 88495 9.32 0 Chromosome;Spindle;Nucleus;Nucleus NA PE1 17 +NX_Q8WTP8 325 36350 9.4 0 Nucleolus;Nucleus membrane;Nucleus;Nucleolus;Nucleus NA PE1 15 +NX_Q8WTP9 111 12302 4.4 0 NA NA PE1 X +NX_Q8WTQ1 72 8526 9.41 0 Secreted NA PE1 8 +NX_Q8WTQ4 265 30819 9.8 0 NA NA PE1 16 +NX_Q8WTQ7 553 62212 6.18 0 Membrane NA PE1 3 +NX_Q8WTR2 217 24194 6.11 0 Nucleoplasm NA PE1 2 +NX_Q8WTR4 605 68586 7.64 6 Golgi apparatus;Endomembrane system;Perinuclear region;Growth cone NA PE1 11 +NX_Q8WTR7 871 100182 8.63 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q8WTR8 489 53174 9.63 0 Endoplasmic reticulum;Secreted NA PE2 19 +NX_Q8WTS1 349 39096 6.17 0 Cytoplasm;Lipid droplet;Cytoplasmic vesicle Chanarin-Dorfman syndrome PE1 3 +NX_Q8WTS6 366 40721 4.5 0 Nucleolus;Nucleus;Chromosome NA PE1 4 +NX_Q8WTT0 213 25038 6.59 1 Cell membrane NA PE1 12 +NX_Q8WTT2 800 92548 9.22 0 Nucleolus;Nucleus speckle;Nucleolus;Nucleus NA PE1 10 +NX_Q8WTU0 396 44124 5.51 0 NA NA PE1 11 +NX_Q8WTU2 575 60819 5.57 0 Secreted NA PE1 7 +NX_Q8WTV0 552 60878 8.55 2 Cytoplasmic vesicle;Caveola;Cell membrane NA PE1 12 +NX_Q8WTV1 239 27059 10.26 0 Nucleus NA PE1 1 +NX_Q8WTW3 980 108978 6.96 0 Golgi apparatus membrane Congenital disorder of glycosylation 2G PE1 17 +NX_Q8WTW4 380 43658 6.1 0 Cytosol;Lysosome membrane Epilepsy, familial focal, with variable foci 2 PE1 3 +NX_Q8WTX7 329 36275 5.05 0 Cytosol NA PE1 22 +NX_Q8WTX9 485 54818 10.35 4 Cytosol;Membrane NA PE2 16 +NX_Q8WTZ3 238 27158 8.81 0 Nucleus NA PE2 19 +NX_Q8WTZ4 195 22622 10.76 0 NA NA PE5 X +NX_Q8WU03 294 34277 6.22 0 Endoplasmic reticulum;Mitochondrion NA PE1 11 +NX_Q8WU08 396 46369 6.87 0 Cell membrane;Centrosome NA PE1 5 +NX_Q8WU10 500 55793 5.58 0 Nucleus speckle;Sarcomere;Nucleus Myopathy, myofibrillar, 8 PE1 12 +NX_Q8WU17 664 75994 5.99 12 Endoplasmic reticulum membrane Renal cell carcinoma PE1 8 +NX_Q8WU20 508 57029 5.65 0 Cell junction;Endomembrane system NA PE1 12 +NX_Q8WU39 189 20694 5.37 0 Secreted;Cytoplasm;Endoplasmic reticulum lumen NA PE1 5 +NX_Q8WU43 125 13691 5.92 0 NA NA PE1 2 +NX_Q8WU49 177 19475 10.26 0 NA NA PE2 7 +NX_Q8WU58 562 59652 9.35 0 Nucleoplasm NA PE1 17 +NX_Q8WU66 669 74924 6.01 0 Secreted;Cell surface;Stereocilium Deafness, autosomal recessive, 98 PE1 21 +NX_Q8WU67 409 46009 6.7 1 Membrane;Nucleus;Cell membrane;Cytoplasmic vesicle NA PE1 18 +NX_Q8WU68 220 25744 6.7 0 Nucleoplasm;Nucleus;Nucleus speckle;Cytoplasm NA PE1 19 +NX_Q8WU76 684 75127 6.21 0 Nucleus NA PE1 4 +NX_Q8WU79 429 46786 9.01 0 Cytoplasm NA PE1 1 +NX_Q8WU90 426 48602 5.22 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q8WUA2 492 57225 5.63 0 Nucleus;Nucleoplasm NA PE1 6 +NX_Q8WUA4 911 100680 6.94 0 Nucleus NA PE1 2 +NX_Q8WUA7 517 59121 5.63 0 Nucleoplasm;Golgi apparatus;Cytoplasmic vesicle NA PE1 22 +NX_Q8WUA8 353 37807 6.38 0 Nucleus;Nucleus;Secreted NA PE1 11 +NX_Q8WUB2 273 30792 9.39 0 Cytoskeleton NA PE1 12 +NX_Q8WUB8 498 56051 6.23 0 Nucleus;Nucleus NA PE1 6 +NX_Q8WUD1 216 24214 7.69 0 Cell membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE1 14 +NX_Q8WUD4 166 19181 6.81 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q8WUD6 406 45097 6.45 8 Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 12 +NX_Q8WUE5 264 29052 5.26 0 NA NA PE1 X +NX_Q8WUF5 828 89091 6.37 0 Cytosol;Nucleus;Cytoplasm NA PE1 19 +NX_Q8WUF8 416 47972 5.75 0 Endoplasmic reticulum;Cytosol;Secreted;Nucleoplasm NA PE1 5 +NX_Q8WUG5 538 57686 7.14 11 Cell membrane;Vacuole membrane NA PE1 14 +NX_Q8WUH1 139 16111 5.35 0 Cytoplasm;Nucleus;Cytosol NA PE1 14 +NX_Q8WUH2 860 97158 6.1 0 Early endosome;Cytoplasmic vesicle;Cytoplasm NA PE1 2 +NX_Q8WUH6 116 11748 9.3 2 Membrane NA PE1 12 +NX_Q8WUI4 952 102927 7.24 0 Cytoplasm;Nucleus;Cytosol NA PE1 12 +NX_Q8WUJ0 223 25492 5.89 0 Nucleoplasm;Nucleus;Cytosol NA PE1 14 +NX_Q8WUJ1 264 28690 8.73 0 Secreted;Nucleolus;Nucleus membrane;Centrosome NA PE1 17 +NX_Q8WUJ3 1361 152998 7.98 0 Endoplasmic reticulum;Cell membrane;Clathrin-coated pit;Secreted;Nucleus;Cytoplasm NA PE1 15 +NX_Q8WUK0 201 22844 9.8 0 Mitochondrion;Mitochondrion inner membrane NA PE1 11 +NX_Q8WUM0 1156 128979 4.97 0 Nuclear pore complex;Kinetochore;Nucleus membrane NA PE1 1 +NX_Q8WUM4 868 96023 6.13 0 Cytosol;Midbody ring;Cytosol;Melanosome;Centrosome;Tight junction;Exosome NA PE1 3 +NX_Q8WUM9 679 73700 6.65 10 Membrane;Cytoplasmic vesicle NA PE1 2 +NX_Q8WUN7 234 26190 5.45 0 Cytoplasm NA PE1 5 +NX_Q8WUP2 373 40670 5.71 0 Focal adhesion;Cell cortex;Focal adhesion;Cytoskeleton;Cell junction;Nucleolus NA PE1 1 +NX_Q8WUQ7 758 88702 9.17 0 Nucleus;Cytosol;Nucleus speckle;Nucleoplasm NA PE1 19 +NX_Q8WUR7 153 16353 9.85 0 Cytosol;Nucleus NA PE1 15 +NX_Q8WUS8 393 44284 8.43 2 Membrane NA PE2 16 +NX_Q8WUT4 740 78843 6.82 1 Cytosol;Nucleus;Nucleolus;Membrane NA PE1 20 +NX_Q8WUT9 341 37718 9.91 6 Mitochondrion inner membrane;Nucleus NA PE1 X +NX_Q8WUU4 475 50810 9.13 0 Nucleoplasm;Centrosome;Nucleus NA PE1 19 +NX_Q8WUU5 269 28690 9.47 0 Nucleus;Nucleus Cardiomyopathy, dilated 2B PE1 7 +NX_Q8WUU8 243 26287 4.2 2 Endoplasmic reticulum membrane NA PE1 5 +NX_Q8WUW1 75 8745 5.35 0 Cytoskeleton;Cell junction;Nucleus speckle NA PE1 3 +NX_Q8WUX1 472 51457 8.53 11 Cell membrane;Cell membrane;Cytosol;Cytoplasmic vesicle NA PE1 X +NX_Q8WUX2 184 20875 5.31 0 Cytosol;Cytosol NA PE1 2 +NX_Q8WUX9 453 50911 5.26 0 Cytosol;Cytoplasm;Nucleus envelope;Nucleus NA PE1 8 +NX_Q8WUY1 208 23865 9.71 0 Cytosol;Nucleus speckle;Secreted NA PE1 8 +NX_Q8WUY3 3088 340635 4.34 0 Cytoplasm NA PE1 9 +NX_Q8WUY8 206 21650 10.75 1 Mitochondrion;Membrane NA PE1 19 +NX_Q8WUY9 529 61771 9.04 0 Cytosol;Golgi apparatus;Nucleoplasm NA PE1 5 +NX_Q8WUZ0 217 23468 5.15 0 Nucleoplasm NA PE1 16 +NX_Q8WV07 137 15354 5.5 0 Nucleoplasm NA PE1 11 +NX_Q8WV15 326 34609 6.28 4 Nucleoplasm;Membrane NA PE2 13 +NX_Q8WV16 495 55694 9.38 0 Nucleoplasm NA PE1 14 +NX_Q8WV19 159 17804 8.98 4 Nucleus;Nucleoplasm;Cytosol;Membrane NA PE1 6 +NX_Q8WV22 266 30855 7.13 0 Cytoplasmic vesicle;Telomere;Nucleus;Nucleoplasm NA PE1 16 +NX_Q8WV24 401 45016 9.94 0 Nucleolus;Nucleolus;Cytoplasmic vesicle;Cytoplasm NA PE1 12 +NX_Q8WV28 456 50466 8.18 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol Agammaglobulinemia 4, autosomal recessive PE1 10 +NX_Q8WV35 223 23797 8.08 0 Nucleoplasm NA PE1 16 +NX_Q8WV37 535 61708 9.26 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q8WV41 574 65265 6.3 0 Cytosol;Membrane;Cytoplasmic vesicle membrane NA PE1 15 +NX_Q8WV44 630 71670 4.99 0 Nucleus;Nucleus;Cytoplasm;Nucleolus NA PE1 5 +NX_Q8WV48 283 30509 5.04 1 Membrane;Cell membrane;Nucleoplasm NA PE2 9 +NX_Q8WV60 388 43968 9.33 0 Mitochondrion NA PE1 5 +NX_Q8WV74 236 25370 8.74 0 Nucleolus;Cytosol NA PE1 11 +NX_Q8WV83 523 58887 9.39 10 Membrane;Cell membrane NA PE1 2 +NX_Q8WV92 249 29314 8.12 0 Cytoplasmic vesicle;Midbody;Late endosome membrane;Membrane NA PE1 2 +NX_Q8WV93 481 54845 6.87 0 Mitochondrion membrane;Cell membrane;Cytosol NA PE1 6 +NX_Q8WV99 257 28023 6.5 0 Cytosol;Endoplasmic reticulum;Nucleus;Nucleolus NA PE1 2 +NX_Q8WVB3 486 53790 5.61 0 Mitochondrion;Nucleolus;Nucleus;Cytoplasm NA PE1 17 +NX_Q8WVB6 975 107383 6.78 0 Nucleus;Cytosol;Nucleoplasm NA PE1 16 +NX_Q8WVC0 666 75404 4.38 0 Nucleoplasm;Nucleus;Nucleolus NA PE1 15 +NX_Q8WVC6 231 26550 9.61 0 Nucleus NA PE1 17 +NX_Q8WVD3 245 28193 6.5 0 Chromosome;Mitochondrion NA PE1 18 +NX_Q8WVD5 230 25535 5.07 0 Nucleoplasm;Cytoskeleton;Membrane NA PE1 11 +NX_Q8WVE0 214 24506 4.47 0 Cytosol;Cell membrane;Cytoplasm NA PE1 13 +NX_Q8WVE6 324 34760 4.73 4 Membrane NA PE1 5 +NX_Q8WVE7 144 15250 9.3 3 Endoplasmic reticulum membrane;Nucleus envelope NA PE1 16 +NX_Q8WVF1 389 44586 5.64 0 Nucleolus;Basal cell membrane;Nucleus;Cell membrane NA PE1 1 +NX_Q8WVF2 138 16563 5.47 0 Extracellular matrix NA PE1 10 +NX_Q8WVF5 259 29967 6.62 0 Microtubule organizing center NA PE1 13 +NX_Q8WVH0 158 17557 4.89 0 Membrane;Synapse NA PE1 15 +NX_Q8WVI0 70 8696 10.87 1 Nucleoplasm;Cell membrane;Membrane;Mitochondrion NA PE1 3 +NX_Q8WVI7 109 12346 6.31 0 Cytoplasm;Nucleolus;Golgi apparatus;Nucleus NA PE1 2 +NX_Q8WVJ2 157 17676 4.99 0 Spindle pole;Centrosome;Kinetochore;Nucleus;Cytoplasm;Cytosol;Cytoskeleton NA PE1 5 +NX_Q8WVJ9 160 18124 9.51 0 Nucleus;Nucleolus;Nucleus;Cytoplasm Barber-Say syndrome;Ablepharon-macrostomia syndrome;Focal facial dermal dysplasia 3, Setleis type PE1 2 +NX_Q8WVK2 155 18860 11.62 0 Nucleus;Nucleus;Nucleoplasm NA PE1 2 +NX_Q8WVK7 121 14188 6.75 0 Kinetochore;Spindle NA PE1 17 +NX_Q8WVL7 239 27290 5 0 Nucleus;Nucleus;Nucleolus;Golgi apparatus NA PE1 11 +NX_Q8WVM0 346 39543 9.35 0 Mitochondrion NA PE1 6 +NX_Q8WVM7 1258 144427 5.4 0 Chromosome;Centromere;Nucleus;Nucleus;Nucleus Mental retardation, autosomal dominant 47 PE1 3 +NX_Q8WVM8 642 72380 5.89 0 Cytosol;Nucleoplasm;Cytoplasm;Endoplasmic reticulum membrane;Golgi stack membrane NA PE1 14 +NX_Q8WVN6 248 27039 7 1 Cell membrane;Secreted NA PE1 17 +NX_Q8WVN8 375 42818 4.87 0 Cytoplasm;Cytoplasm NA PE1 15 +NX_Q8WVP5 186 20827 9.57 0 Cytoplasm NA PE1 19 +NX_Q8WVP7 490 55098 5.68 9 Membrane;Cytosol Laurin-Sandrow syndrome;Acheiropody;Hypoplasia or aplasia of tibia with polydactyly;Syndactyly 4;Preaxial polydactyly 2 PE1 7 +NX_Q8WVQ1 401 44840 5.72 1 Endoplasmic reticulum membrane;Golgi stack membrane;Cell membrane Desbuquois dysplasia 1 PE1 17 +NX_Q8WVR3 580 62597 9.13 0 Cytoplasm;Cell membrane;Cytoplasmic vesicle;Microtubule organizing center NA PE1 7 +NX_Q8WVS4 1066 122571 6.88 0 Microtubule organizing center;Cilium Short-rib thoracic dysplasia 8 with or without polydactyly PE1 7 +NX_Q8WVT3 735 79375 4.81 0 Nucleus;Endoplasmic reticulum-Golgi intermediate compartment NA PE1 2 +NX_Q8WVV4 589 68065 5.89 0 Golgi apparatus;Nucleoplasm;Tight junction Premature ovarian failure 2B PE1 X +NX_Q8WVV5 523 59070 5.73 1 Mitochondrion;Membrane NA PE1 6 +NX_Q8WVV9 542 60083 7.83 0 Cytosol;Mitochondrion;Nucleus NA PE1 2 +NX_Q8WVX3 66 7604 5.07 1 Cytosol;Membrane NA PE1 4 +NX_Q8WVX9 515 59357 9.25 1 Peroxisome membrane;Peroxisome Peroxisomal fatty acyl-CoA reductase 1 disorder PE1 11 +NX_Q8WVY7 318 36805 6.07 0 Nucleus;Nucleus;Nucleolus NA PE1 5 +NX_Q8WVZ1 309 34352 8.54 4 Membrane NA PE1 3 +NX_Q8WVZ7 376 42294 7.22 1 Endoplasmic reticulum membrane NA PE1 7 +NX_Q8WVZ9 684 77163 5.35 0 NA NA PE1 13 +NX_Q8WW01 171 18641 4.46 0 Nucleolus;Nucleus;Nucleus;Nucleolus Pontocerebellar hypoplasia 2F PE1 1 +NX_Q8WW12 178 18925 6.86 0 Nucleus;Nucleus NA PE1 3 +NX_Q8WW14 230 25923 8.78 0 Mitochondrion NA PE1 10 +NX_Q8WW18 174 19346 5.26 0 Nucleoplasm NA PE1 17 +NX_Q8WW22 397 44798 7.52 0 Cell membrane;Cytosol;Membrane NA PE1 15 +NX_Q8WW24 435 50649 6.01 0 Cilium axoneme;Flagellum;Flagellum axoneme;Cytoskeleton NA PE1 2 +NX_Q8WW27 367 41581 8.08 0 NA NA PE2 1 +NX_Q8WW32 186 22490 10.21 0 Nucleus;Chromosome NA PE1 1 +NX_Q8WW33 167 19266 6.04 0 Cytoplasm;Nucleoplasm NA PE1 12 +NX_Q8WW34 195 21842 8.5 2 Membrane NA PE1 20 +NX_Q8WW35 142 16122 4.82 0 Cytosol Short-rib thoracic dysplasia 17 with or without polydactyly PE1 3 +NX_Q8WW36 166 18005 9.33 0 NA NA PE1 X +NX_Q8WW38 1151 128159 6.03 0 Nucleoplasm;Nucleus 46,XY sex reversal 9;Conotruncal heart malformations;Diaphragmatic hernia 3;Tetralogy of Fallot PE1 8 +NX_Q8WW43 257 28460 9.21 7 Endoplasmic reticulum;Membrane NA PE1 15 +NX_Q8WW52 585 64028 6.19 1 Membrane;Nucleoplasm NA PE1 1 +NX_Q8WW59 207 23129 6.44 0 Nucleoplasm NA PE1 12 +NX_Q8WW62 240 27631 8.38 1 Endoplasmic reticulum membrane NA PE1 16 +NX_Q8WWA0 313 34962 5.66 0 Cell membrane;Secreted NA PE1 1 +NX_Q8WWA1 233 25495 5.36 2 Membrane;Cytosol NA PE1 3 +NX_Q8WWB3 177 20893 4.64 0 NA NA PE1 10 +NX_Q8WWB5 315 35957 5.96 0 Nucleoplasm;Cytosol NA PE1 11 +NX_Q8WWB7 406 43864 6.1 1 Lysosome membrane NA PE1 1 +NX_Q8WWC4 291 32545 9.31 0 Mitochondrion;Mitochondrion matrix NA PE1 2 +NX_Q8WWF1 131 14923 4 0 Secreted;Cytoplasmic vesicle NA PE2 1 +NX_Q8WWF3 244 28167 7.64 1 Membrane NA PE1 7 +NX_Q8WWF5 429 46958 8.34 1 Endoplasmic reticulum membrane NA PE1 19 +NX_Q8WWF6 145 16559 4.85 0 NA NA PE1 2 +NX_Q8WWF8 208 24229 5.76 0 Nucleus;Cytoskeleton;Cytoplasm NA PE1 5 +NX_Q8WWG1 115 12722 6.12 1 Cell membrane;Secreted NA PE1 15 +NX_Q8WWG9 221 23806 4.68 1 Cytoskeleton;Membrane;Nucleus NA PE1 2 +NX_Q8WWH4 475 53458 5.6 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 7 +NX_Q8WWH5 349 37253 8.44 0 Cytoskeleton;Cytoplasmic vesicle NA PE1 10 +NX_Q8WWI1 1683 192696 8.34 0 Cytosol;Cytoskeleton NA PE1 13 +NX_Q8WWI5 657 73302 8.93 9 Mitochondrion;Nucleoplasm;Cell membrane;Mitochondrion outer membrane NA PE1 9 +NX_Q8WWK9 683 76987 9.45 0 Cytoskeleton;Spindle;Spindle pole;Cytoskeleton;Cytosol NA PE1 13 +NX_Q8WWL2 714 79671 7.75 0 Cytoplasmic vesicle;Nucleus;Cytoplasmic vesicle membrane;Cytosol;Perinuclear region;Cell membrane;Cytoskeleton;Cytoskeleton NA PE1 16 +NX_Q8WWL7 1395 157916 6.28 0 Nucleus;Nucleus speckle NA PE1 X +NX_Q8WWM1 108 12077 4.81 0 Cytoplasmic vesicle;Nucleoplasm NA PE3 X +NX_Q8WWM7 1075 113374 8.7 0 Cytosol;Cytoplasmic granule;Nucleus speckle;Cytoplasm;Membrane NA PE1 16 +NX_Q8WWM9 190 21405 6.32 0 Nucleus speckle;Cytoplasm NA PE1 17 +NX_Q8WWN8 1544 169844 6.69 0 Cytoplasm;Cytoskeleton;Cell membrane;Lamellipodium;Ruffle NA PE1 5 +NX_Q8WWN9 437 48993 7.17 0 Cytoplasm;Cell membrane NA PE1 6 +NX_Q8WWP7 306 34369 9.11 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Golgi apparatus membrane;Golgi apparatus NA PE1 7 +NX_Q8WWQ0 1821 206689 9.02 0 Nucleus;Nucleoplasm NA PE1 6 +NX_Q8WWQ2 592 66596 9.95 0 Extracellular matrix Urofacial syndrome 1 PE1 10 +NX_Q8WWQ8 2551 276988 6 1 Cell membrane;Cytoplasm;Cytosol NA PE1 12 +NX_Q8WWR8 484 51572 7.97 0 Lysosome lumen;Membrane NA PE1 2 +NX_Q8WWR9 84 9188 6.53 0 NA NA PE2 8 +NX_Q8WWT9 602 66841 8.58 11 Cell membrane NA PE1 20 +NX_Q8WWU5 503 56141 5.08 1 Membrane;Flagellum;Acrosome NA PE1 6 +NX_Q8WWU7 325 36212 8.61 0 Secreted NA PE1 1 +NX_Q8WWV3 396 43590 9.22 0 Mitochondrion outer membrane Optic atrophy 10 with or without ataxia, mental retardation, and seizures PE1 6 +NX_Q8WWV6 532 57144 9.37 1 Cell membrane NA PE1 1 +NX_Q8WWW0 418 47090 9.31 0 Cytoskeleton;Cytoplasm NA PE1 1 +NX_Q8WWW8 586 65589 6.8 0 NA NA PE1 X +NX_Q8WWX0 329 36341 6.34 0 Cell membrane NA PE2 4 +NX_Q8WWX8 675 74036 6.33 14 Cytosol;Nucleus;Membrane NA PE1 16 +NX_Q8WWX9 145 16232 5.39 0 Cytoplasm;Nucleus;Cytosol;Nucleoplasm;Golgi apparatus;Endoplasmic reticulum;Perinuclear region NA PE1 22 +NX_Q8WWY3 499 55456 5.63 0 Nucleus;Nucleus speckle;Cajal body;Nucleus Retinitis pigmentosa 11 PE1 19 +NX_Q8WWY6 194 21616 8.52 0 Nucleus NA PE1 19 +NX_Q8WWY7 111 12050 5.35 0 Secreted NA PE1 20 +NX_Q8WWY8 451 50859 7.15 0 Membrane;Secreted Woolly hair autosomal recessive 2;Hypotrichosis 7 PE1 3 +NX_Q8WWZ1 152 16943 4.94 0 Secreted NA PE1 2 +NX_Q8WWZ3 215 24802 5.23 0 Cytosol;Nucleus;Cytoplasm Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant PE1 1 +NX_Q8WWZ4 1543 175790 6.22 15 Membrane NA PE2 17 +NX_Q8WWZ7 1642 186508 6.51 15 Golgi apparatus membrane;Late endosome membrane;Lysosome membrane NA PE1 17 +NX_Q8WWZ8 545 60022 5.34 0 Nucleus envelope NA PE1 10 +NX_Q8WX39 176 20285 5.72 0 Secreted NA PE2 9 +NX_Q8WX77 278 29005 8.29 0 Cytoplasmic vesicle;Nucleoplasm;Secreted NA PE1 9 +NX_Q8WX92 580 65697 5.77 0 Nucleus;Nucleoplasm NA PE1 9 +NX_Q8WX93 1383 150564 6.67 0 Cytosol;Z line;Cell membrane;Cytoskeleton;Cytoskeleton;Focal adhesion;Ruffle;Podosome;Lamellipodium;Axon;Growth cone Pancreatic cancer 1 PE1 4 +NX_Q8WX94 980 111807 5.87 0 Golgi apparatus Hydatidiform mole, recurrent, 1 PE1 19 +NX_Q8WXA2 126 14271 8.28 0 Secreted NA PE1 11 +NX_Q8WXA3 655 75055 6.11 0 Nucleus;Nucleoplasm NA PE1 10 +NX_Q8WXA8 447 50220 5.59 4 Cell membrane NA PE1 3 +NX_Q8WXA9 508 59380 10.39 0 Nucleus speckle;Nucleoplasm;Nucleus NA PE1 5 +NX_Q8WXB1 218 24600 5.84 0 Cytosol;Nucleus;Cytoplasm NA PE1 2 +NX_Q8WXB4 792 91812 8.16 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q8WXC3 89 10107 6.3 0 Cytoplasm NA PE1 16 +NX_Q8WXC6 57 6211 3.6 0 Nucleus;Cytosol;Nucleoplasm;Cytoplasm;Nucleoplasm NA PE1 2 +NX_Q8WXD0 754 86453 9.04 7 Cell membrane Cryptorchidism PE1 13 +NX_Q8WXD2 468 53005 4.94 0 Cytoplasmic vesicle;Secreted;Secretory vesicle membrane;Secretory vesicle lumen NA PE1 15 +NX_Q8WXD5 167 18824 5.02 0 Nucleoplasm;Gem;Nucleoplasm;Nucleus;Cytoplasm NA PE1 2 +NX_Q8WXD9 1431 149814 9.21 0 Cytoplasm;Cytosol;Nucleus NA PE1 16 +NX_Q8WXE0 1202 126783 6.63 0 Cytoplasm;Nucleoplasm NA PE1 17 +NX_Q8WXE1 791 85838 5.9 0 Nucleus;Nucleus NA PE1 3 +NX_Q8WXE9 905 101165 5.2 0 Nucleolus;Cytoplasm;Membrane;Synaptosome;Cytosol NA PE1 14 +NX_Q8WXF0 261 30512 11.69 0 Nucleus NA PE1 6 +NX_Q8WXF1 523 58744 6.26 0 Nucleus;Nucleolus;Nucleus speckle;Nucleoplasm;Nucleolus;Nucleus matrix;Cytoplasm NA PE1 13 +NX_Q8WXF3 142 15451 5.41 0 Secreted NA PE1 19 +NX_Q8WXF5 182 20624 5.4 0 NA NA PE2 7 +NX_Q8WXF7 558 63544 5.82 2 Endoplasmic reticulum membrane;Golgi apparatus membrane;Axon Neuropathy, hereditary sensory, 1D;Spastic paraplegia 3, autosomal dominant PE1 14 +NX_Q8WXF8 326 36179 9.23 0 Nucleoplasm;Nucleolus NA PE1 19 +NX_Q8WXG1 361 42170 8.53 0 Endoplasmic reticulum;Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleolus;Golgi apparatus;Lipid droplet;Mitochondrion;Mitochondrion inner membrane;Mitochondrion outer membrane NA PE1 2 +NX_Q8WXG6 1647 183303 5.72 0 Cytosol;Membrane;Cell membrane;Cytoplasm NA PE1 11 +NX_Q8WXG8 99 11620 7.73 0 NA NA PE1 5 +NX_Q8WXG9 6306 693069 4.53 7 Cell membrane Febrile seizures, familial, 4;Usher syndrome 2C PE1 5 +NX_Q8WXH0 6885 796442 5.26 1 Nucleus membrane;Mitochondrion;Nucleoplasm;Z line;Focal adhesion;Cytoskeleton;Nucleus outer membrane;Sarcoplasmic reticulum membrane;Cell membrane Emery-Dreifuss muscular dystrophy 5, autosomal dominant PE1 14 +NX_Q8WXH2 748 81469 9.43 1 Nucleoplasm;Cytosol;Cell membrane;Endoplasmic reticulum membrane Huntington disease-like 2 PE1 16 +NX_Q8WXH4 323 35367 8.39 0 NA NA PE1 X +NX_Q8WXH5 440 50623 6.63 0 Nucleus;Cytosol NA PE1 14 +NX_Q8WXH6 277 31076 9.45 0 Cell membrane NA PE2 X +NX_Q8WXI2 1034 117535 6.34 0 Cytoplasm;Membrane;Golgi apparatus;Cell membrane NA PE1 X +NX_Q8WXI3 467 50894 6.55 0 Nucleus;Cytoplasm Glaucoma 1, open angle, F PE1 7 +NX_Q8WXI4 607 68492 8.66 0 Cytosol;Cytoplasm NA PE1 1 +NX_Q8WXI7 14507 1519175 5.13 1 Extracellular space;Cell membrane NA PE1 19 +NX_Q8WXI8 215 24704 8.28 1 Membrane NA PE1 12 +NX_Q8WXI9 593 65261 9.73 0 Nucleoplasm;Nucleus speckle Mental retardation, autosomal dominant 18 PE1 1 +NX_Q8WXJ9 295 34282 9.05 0 NA NA PE1 1 +NX_Q8WXK1 588 65799 5.51 0 NA NA PE1 7 +NX_Q8WXK3 278 30007 6.36 0 Golgi apparatus;Nucleus NA PE1 10 +NX_Q8WXK4 309 33943 5.53 0 NA NA PE1 X +NX_Q8WXQ3 324 35482 5.84 0 NA NA PE2 14 +NX_Q8WXQ8 436 49036 6.24 0 Nucleus;Secreted NA PE1 7 +NX_Q8WXR4 1341 151829 8.4 0 Cytoskeleton;Stereocilium NA PE1 2 +NX_Q8WXS3 180 19224 5.47 0 Postsynaptic density;Membrane raft;Synaptosome;Cytosol;Nucleus;Cytoplasm NA PE1 8 +NX_Q8WXS4 190 20932 7.65 4 Nucleolus;Cytosol;Membrane;Nucleus NA PE2 2 +NX_Q8WXS5 425 43313 9.34 5 Membrane;Postsynaptic density NA PE1 19 +NX_Q8WXS8 1223 133888 6.81 0 Extracellular matrix;Cytosol NA PE1 10 +NX_Q8WXT5 416 45892 9.74 0 Nucleus NA PE2 9 +NX_Q8WXU2 420 48527 8.88 0 Cytosol;Cell membrane;Cytoplasm;Nucleus Dyslexia 1;Ciliary dyskinesia, primary, 25 PE1 15 +NX_Q8WXW3 757 89805 5.78 0 Cytoplasm;Microtubule organizing center;Centrosome;Secreted;Nucleus;Nucleoplasm;Centriolar satellite NA PE1 13 +NX_Q8WXX0 4024 461159 5.7 0 Cytosol;Cilium axoneme NA PE1 2 +NX_Q8WXX5 260 29910 5.58 0 Nucleus;Nucleoplasm;Nucleus;Cell membrane;Cytoplasm;Cell membrane NA PE1 10 +NX_Q8WXX7 1259 138982 9.41 0 Cytosol;Nucleus;Cytoskeleton;Growth cone;Nucleoplasm Mental retardation, autosomal dominant 26 PE1 7 +NX_Q8WY07 619 67169 5.82 14 Cell membrane NA PE1 X +NX_Q8WY21 1168 129635 7.38 1 Membrane;Cytosol;Cell membrane NA PE1 10 +NX_Q8WY22 251 27836 9.48 4 Mitochondrion;Nucleoplasm;Mitochondrion outer membrane NA PE1 12 +NX_Q8WY36 941 105130 8.96 0 Nucleus;Nucleoplasm;Cytosol NA PE1 3 +NX_Q8WY41 292 30230 8.29 0 Cytosol;Cytoplasm;Perinuclear region;Nucleoplasm Spermatogenic failure 12 PE1 10 +NX_Q8WY50 150 16680 7.02 0 NA NA PE2 21 +NX_Q8WY54 764 85002 4.96 0 Nucleus;Cytoplasm;Nucleolus;Nucleus NA PE1 17 +NX_Q8WY64 445 49910 6.9 0 Cell membrane;Cytoplasm NA PE1 6 +NX_Q8WY91 577 62890 9.39 0 Nucleus speckle;Nucleoplasm NA PE1 2 +NX_Q8WY98 164 17601 8.76 3 Membrane;Cytoplasmic vesicle NA PE1 1 +NX_Q8WYA0 676 79746 8.9 0 Centrosome;Cytosol;Cilium NA PE1 12 +NX_Q8WYA1 636 70887 7.01 0 Nucleus;Nucleus;Nucleolus NA PE1 12 +NX_Q8WYA6 563 65173 4.96 0 Cytoplasm;Nucleus;Nucleoplasm NA PE1 20 +NX_Q8WYB5 2073 231378 5.68 0 Nucleus;Nucleus;Nucleus Genitopatellar syndrome;Ohdo syndrome, SBBYS variant PE1 10 +NX_Q8WYH8 240 27751 7.53 0 Nucleus NA PE1 2 +NX_Q8WYJ6 367 41971 5.56 0 Cytoskeleton;Cytoplasm;Cytoskeleton;Centrosome;Midbody NA PE1 16 +NX_Q8WYK0 555 62034 6.3 0 Cytoplasm;Nucleoplasm;Cytosol NA PE1 5 +NX_Q8WYK1 1306 145623 5.86 1 Membrane;Cytoplasmic vesicle;Nucleolus;Nucleus NA PE1 2 +NX_Q8WYK2 163 18704 9.3 0 Nucleus;Nucleus speckle;Nucleoplasm NA PE1 14 +NX_Q8WYL5 1049 115511 5.87 0 Cytosol;Lamellipodium;Cytoskeleton;Midbody;Cleavage furrow;Cell membrane;Nucleoplasm NA PE1 12 +NX_Q8WYN0 398 45378 4.93 0 Cytoskeleton;Cytoskeleton;Cytoplasm NA PE1 X +NX_Q8WYN3 585 64900 4.68 0 Nucleus;Nucleus;Nucleolus NA PE2 2 +NX_Q8WYP3 895 100163 6.15 0 Cytoplasm;Cytosol;Nucleolus;Golgi apparatus;Cytoplasm MACS syndrome PE1 20 +NX_Q8WYP5 2266 252498 6.19 0 Nucleus membrane;Cytoplasm;Nucleus;Nucleus envelope;Nucleus matrix;Kinetochore;Nucleoplasm;Nuclear pore complex NA PE1 1 +NX_Q8WYQ3 142 14149 7.73 0 Mitochondrion;Cytoplasm;Mitochondrion;Mitochondrion intermembrane space Spinal muscular atrophy, Jokela type;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2;Myopathy, isolated mitochondrial, autosomal dominant PE1 22 +NX_Q8WYQ4 148 16487 9.03 0 NA NA PE2 22 +NX_Q8WYQ5 773 86045 5.68 0 Nucleus;Nucleolus NA PE1 22 +NX_Q8WYQ9 949 100042 8.47 0 Nucleus membrane NA PE1 16 +NX_Q8WYR1 880 97348 6.3 0 Microtubule organizing center;Cytosol;Nucleus;Cytoplasm;Cell membrane Ataxia-oculomotor apraxia 3 PE1 17 +NX_Q8WYR4 309 35124 4.58 0 Cytoplasm;Cilium;Nucleoplasm Ciliary dyskinesia, primary, 24 PE1 21 +NX_Q8WZ04 291 32155 9.3 1 Membrane;Endoplasmic reticulum;Cytoplasm Deafness, autosomal recessive, 63 PE1 11 +NX_Q8WZ19 329 36357 6.77 0 Nucleus;Nucleus;Nucleus NA PE1 16 +NX_Q8WZ26 134 14832 8.26 0 NA NA PE2 19 +NX_Q8WZ33 124 13947 7.7 0 Nucleolus;Cytoplasm NA PE1 4 +NX_Q8WZ55 320 35197 4.24 2 Cytoplasm;Cell membrane Bartter syndrome 4A, neonatal, with sensorineural deafness PE1 1 +NX_Q8WZ59 177 19457 5.15 1 Membrane NA PE1 19 +NX_Q8WZ60 621 70359 5.89 0 NA NA PE1 3 +NX_Q8WZ64 1704 193452 7.11 0 Cytosol;Cytoplasm;Cytoskeleton;Focal adhesion;Nucleoplasm NA PE1 4 +NX_Q8WZ69 217 24620 7.61 0 NA NA PE2 11 +NX_Q8WZ71 300 30404 8.74 2 Membrane NA PE1 3 +NX_Q8WZ73 363 40514 5.33 0 Cytosol;Cytoplasmic vesicle;Cell membrane;Recycling endosome membrane NA PE1 17 +NX_Q8WZ74 1663 181051 8.23 0 Dendritic spine;Midbody ring;Cytosol;Cell cortex NA PE1 7 +NX_Q8WZ75 1007 107457 6.18 0 Cell membrane NA PE1 11 +NX_Q8WZ79 361 41713 9.4 0 Lysosome NA PE2 1 +NX_Q8WZ82 227 24418 6.44 0 Cytosol;Nucleoplasm NA PE1 17 +NX_Q8WZ84 308 34445 8.7 7 Cell membrane NA PE2 11 +NX_Q8WZ92 322 35786 8.01 7 Cell membrane NA PE2 11 +NX_Q8WZ94 311 34296 8.67 7 Cell membrane NA PE2 11 +NX_Q8WZA0 190 21495 4.88 0 Cytosol;Nucleoplasm NA PE1 1 +NX_Q8WZA1 660 75252 6.37 1 Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3;Retinitis pigmentosa 76;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3;Muscular dystrophy-dystroglycanopathy limb-girdle C3 PE1 1 +NX_Q8WZA2 1011 115522 6.37 0 Focal adhesion;Membrane;Cytoplasm NA PE1 2 +NX_Q8WZA6 343 38518 8.85 7 Cell membrane NA PE3 17 +NX_Q8WZA8 35 3819 7.96 0 NA NA PE5 11 +NX_Q8WZA9 623 62717 4.81 0 Cytoplasmic vesicle NA PE1 19 +NX_Q8WZB0 136 14715 11.93 0 NA NA PE5 9 +NX_Q902F8 699 79168 9.26 1 Cell membrane;Cell membrane;Virion NA PE1 8 +NX_Q902F9 699 79195 9.06 1 Cell membrane;Cell membrane;Virion NA PE1 19 +NX_Q92185 356 40519 9.41 1 Golgi apparatus membrane NA PE1 12 +NX_Q92186 375 42430 9.48 1 Microtubule organizing center;Golgi apparatus membrane NA PE2 15 +NX_Q92187 359 41295 9.77 1 Golgi apparatus membrane;Golgi apparatus NA PE1 5 +NX_Q92466 427 47864 9.56 0 Nucleus;Nucleoplasm;Cell junction Xeroderma pigmentosum complementation group E PE1 11 +NX_Q92478 149 17307 9.02 1 Membrane NA PE1 12 +NX_Q92481 460 50474 8.41 0 Nucleoplasm;Nucleus Char syndrome;Patent ductus arteriosus 2 PE1 6 +NX_Q92482 292 31544 6.74 6 Cell membrane;Nucleus;Basolateral cell membrane NA PE1 9 +NX_Q92484 453 51260 5.88 0 Nucleus;Mitochondrion;Secreted;Nucleolus NA PE1 6 +NX_Q92485 455 50814 5.36 0 Cytosol;Secreted;Golgi apparatus;Cell membrane NA PE1 1 +NX_Q92496 578 65351 4.85 0 Secreted NA PE1 1 +NX_Q92499 740 82432 6.8 0 Cytoplasmic granule;Cytoplasm;Cytosol;Nucleus;Nucleoplasm NA PE1 2 +NX_Q92502 1023 112601 5.87 0 Focal adhesion NA PE1 X +NX_Q92503 715 81250 6.01 0 Nucleus;Cytosol;Cytoplasm;Golgi apparatus;Nucleoplasm;Cytoplasm NA PE1 17 +NX_Q92504 469 50118 6.36 6 cis-Golgi network membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 6 +NX_Q92506 261 26974 6.09 0 Mitochondrion matrix NA PE1 6 +NX_Q92508 2521 286790 7.37 36 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cell membrane;Lamellipodium membrane Lymphedema, hereditary, 3;Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema PE1 16 +NX_Q92519 343 38801 5.77 0 Cytoplasm;Cytosol;Cytoskeleton;Nucleoplasm NA PE1 2 +NX_Q92520 227 24680 8.52 0 Golgi apparatus;Secreted;Cytoplasmic vesicle NA PE1 7 +NX_Q92521 554 65056 9.39 9 Cell membrane;Cytosol;Endoplasmic reticulum membrane NA PE1 15 +NX_Q92522 213 22487 10.76 0 Nucleus;Nucleolus;Nucleus;Chromosome NA PE1 3 +NX_Q92523 772 87801 8.86 2 Mitochondrion outer membrane NA PE1 22 +NX_Q92526 530 57821 6.85 0 Cytoplasm NA PE1 17 +NX_Q92527 254 29029 9.09 0 Nucleus NA PE1 7 +NX_Q92529 594 64056 8.57 0 Nucleoplasm;Cytosol NA PE1 9 +NX_Q92530 271 29817 5.42 0 Cytoplasm;Cytosol;Endoplasmic reticulum;Cytoplasm NA PE1 20 +NX_Q92535 297 33583 8.66 8 Endoplasmic reticulum membrane NA PE1 1 +NX_Q92536 515 56828 5.63 12 Cell membrane;Cytoplasmic vesicle;Basolateral cell membrane NA PE1 16 +NX_Q92537 303 32090 5.01 1 Nucleoplasm;Cytoskeleton;Membrane NA PE1 14 +NX_Q92538 1859 206446 5.48 0 Endoplasmic reticulum-Golgi intermediate compartment;trans-Golgi network;cis-Golgi network;Lipid droplet;Cytoplasm;Membrane;Golgi apparatus NA PE1 10 +NX_Q92539 896 99399 5.18 0 Nucleus;Cytosol;Nucleus;Cytosol;Endoplasmic reticulum membrane;Cell membrane;Cytoskeleton Majeed syndrome PE1 18 +NX_Q92540 1137 127282 8.87 0 Cytoskeleton;Cytoplasm;Nucleus;Cytosol NA PE1 1 +NX_Q92541 710 80313 8.21 0 Nucleoplasm;Cytosol;Nucleus NA PE1 15 +NX_Q92542 709 78411 5.67 1 Cytosol;Melanosome;Membrane;Cytoplasmic vesicle membrane Acne inversa, familial, 1 PE1 1 +NX_Q92543 992 108598 4.97 0 Mitochondrion;Early endosome membrane;Cytoplasmic vesicle membrane NA PE1 11 +NX_Q92544 642 74519 6.11 9 Membrane;Mitochondrion;Golgi apparatus;Early endosome NA PE1 20 +NX_Q92545 1883 205138 8.74 2 Membrane;Cytoplasmic vesicle;Cytoskeleton NA PE1 2 +NX_Q92546 391 42455 5.65 0 Cell membrane;Cytosol;Membrane;Cytosol NA PE1 9 +NX_Q92547 1522 170679 6.52 0 Nucleus;Chromosome;Spindle pole;Centrosome;Nucleus NA PE1 3 +NX_Q92551 441 50236 6.81 0 Cytoplasm;Nucleolus;Nucleus;Cytosol;Nucleus NA PE1 3 +NX_Q92552 414 47611 5.83 0 Cytoplasm;Mitochondrion NA PE1 5 +NX_Q92556 727 83829 5.89 0 Cytoplasm;Cytoplasm;Cell membrane NA PE1 7 +NX_Q92558 559 61652 6.01 0 Cytoskeleton;Synapse;Focal adhesion NA PE1 6 +NX_Q92560 729 80362 6.38 0 Cytoplasm;Cytosol;Nucleus;Nucleoplasm Tumor predisposition syndrome;Mesothelioma, malignant PE1 3 +NX_Q92561 330 37573 6.53 0 Mitochondrion NA PE1 8 +NX_Q92562 907 103635 6.46 0 Endosome membrane;Cytoplasmic vesicle;Lipid droplet Polymicrogyria, bilateral temporooccipital;Charcot-Marie-Tooth disease 4J;Amyotrophic lateral sclerosis 11;Yunis-Varon syndrome PE1 6 +NX_Q92563 424 46779 4.71 0 Nucleus speckle;Extracellular matrix NA PE1 10 +NX_Q92564 292 34068 5.58 0 Cytoplasmic vesicle;Nucleus NA PE1 4 +NX_Q92565 580 67733 5.89 0 Nucleoplasm;Nucleus;Nucleus NA PE1 7 +NX_Q92567 244 26184 9.01 0 Nucleoplasm NA PE1 11 +NX_Q92569 461 54448 5.68 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 1 +NX_Q92570 626 68230 8 0 Nucleus Ewing sarcoma PE1 9 +NX_Q92572 193 21732 5.23 0 Golgi apparatus;Cytoplasmic vesicle membrane NA PE1 5 +NX_Q92574 1164 129767 6.02 0 Cytosol;Cytoplasm;Membrane Focal cortical dysplasia 2;Lymphangioleiomyomatosis;Tuberous sclerosis 1 PE1 9 +NX_Q92575 508 56778 6.1 0 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus envelope NA PE1 2 +NX_Q92576 2039 229481 6.52 0 Nucleoplasm NA PE1 6 +NX_Q92581 669 74162 6.03 13 Cytoplasmic vesicle;Endosome membrane Mental retardation, X-linked, syndromic, Christianson type PE1 X +NX_Q92583 94 10507 9.59 0 Secreted NA PE1 16 +NX_Q92585 1016 108054 8.45 0 Nucleus speckle;Nucleoplasm NA PE1 5 +NX_Q92597 394 42835 5.49 0 Cytosol;Cytoskeleton;Cytosol;Centrosome;Nucleus;Cell membrane Charcot-Marie-Tooth disease 4D PE1 8 +NX_Q92598 858 96865 5.28 0 Cytoplasm;Cytoplasm;Nucleoplasm;Cytosol NA PE1 13 +NX_Q92599 483 55756 5.89 0 Cytoskeleton;Cytoplasm;Cytoskeleton;Cytosol NA PE1 5 +NX_Q92600 299 33631 8.18 0 Nucleus;P-body NA PE1 2 +NX_Q92604 370 43089 9.02 2 Endoplasmic reticulum membrane NA PE1 1 +NX_Q92608 1830 211948 6.43 0 Cytoskeleton;Endomembrane system Immunodeficiency 40 PE1 5 +NX_Q92609 795 89004 6.1 0 Autophagosome;Endosome membrane;Golgi apparatus;Cytoplasmic vesicle NA PE1 3 +NX_Q92610 1267 137528 8.1 0 Nucleoplasm;Nucleus NA PE1 15 +NX_Q92611 657 73768 6.45 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 3 +NX_Q92613 823 93808 6.79 0 Nucleolus;Nucleus NA PE1 X +NX_Q92614 2054 233115 5.95 0 trans-Golgi network;Cell surface;Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment;Cytoskeleton;Cytoplasm NA PE1 17 +NX_Q92615 738 80552 6.48 0 Cytosol;Cytosol NA PE1 10 +NX_Q92616 2671 292758 7.29 0 Cytosol;Cytoplasm NA PE1 12 +NX_Q92617 1050 116847 10.04 1 Membrane NA PE2 16 +NX_Q92618 1163 124289 9.02 0 Nucleoplasm;Nucleus;Cytosol NA PE1 18 +NX_Q92619 1136 124614 5.76 0 Cytoplasm;Ruffle membrane NA PE1 19 +NX_Q92620 1227 140503 6.11 0 Nucleus;Nucleus NA PE1 16 +NX_Q92621 2012 227922 5.81 0 Nucleus membrane;Nuclear pore complex Nephrotic syndrome 13 PE1 7 +NX_Q92622 972 108622 5.86 0 Cytoplasmic vesicle;Early endosome;Late endosome;Lysosome;Cytosol Spinocerebellar ataxia, autosomal recessive, 15 PE1 3 +NX_Q92623 222 24379 9.13 0 NA NA PE1 14 +NX_Q92624 585 66853 6.44 0 Cytosol;Nucleus;Cytoskeleton;Membrane NA PE1 17 +NX_Q92625 1134 123108 5.93 0 Cytosol;Nucleoplasm;Cell projection;Cytoplasm NA PE1 6 +NX_Q92626 1479 165275 6.79 0 Extracellular matrix Anterior segment dysgenesis 7 PE1 2 +NX_Q92628 1395 154789 4.71 0 Cytosol NA PE1 4 +NX_Q92629 289 32071 9.24 1 Cytoskeleton;Sarcolemma Cardiomyopathy, dilated 1L;Limb-girdle muscular dystrophy 2F PE1 5 +NX_Q92630 601 66652 9.7 0 Cytosol;Cytoplasm;Nucleoplasm;Nucleus NA PE1 12 +NX_Q92633 364 41109 8.87 7 Cell membrane;Nucleus speckle;Cell surface;Endosome;Cell membrane NA PE1 9 +NX_Q92636 917 104372 5.8 0 Nucleolus NA PE1 8 +NX_Q92637 280 32232 8.87 1 Cell membrane NA PE2 1 +NX_Q92643 395 45252 5.76 1 Endoplasmic reticulum membrane NA PE1 1 +NX_Q92664 365 41515 9.34 0 Nucleus;Nucleus NA PE1 13 +NX_Q92665 395 45318 9.32 0 Mitochondrion;Nucleolus;Mitochondrion NA PE1 13 +NX_Q92667 903 97342 4.84 0 Mitochondrion outer membrane;Mitochondrion NA PE1 17 +NX_Q92670 426 49753 9.07 0 Nucleus NA PE5 11 +NX_Q92673 2214 248426 5.32 1 Cell junction;Membrane;Nucleoplasm;Golgi apparatus;Endosome;Secreted Alzheimer disease PE1 11 +NX_Q92674 756 86720 8.98 0 Nucleus;Centromere;Cytosol;Nucleus NA PE1 X +NX_Q92681 617 66790 4.78 0 Cell membrane;Nucleoplasm;Nucleus;trans-Golgi network;Cell junction NA PE1 1 +NX_Q92685 438 50126 9.56 11 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1D PE1 3 +NX_Q92686 78 7618 7.72 0 NA NA PE1 11 +NX_Q92688 251 28788 3.94 0 Nucleus;Cytoplasm;Nucleus NA PE1 9 +NX_Q92692 538 57742 4.74 1 Nucleolus;Cell junction;Cell membrane NA PE1 19 +NX_Q92696 567 65072 5.45 0 Nucleoplasm NA PE1 14 +NX_Q92698 747 84352 8.85 0 Nucleus;Nucleoplasm NA PE1 1 +NX_Q92729 1446 162423 6.46 1 Cell junction;Cell membrane NA PE1 1 +NX_Q92730 232 26056 8.24 0 Cytoskeleton;Cell membrane;Cytoplasmic vesicle;Cell membrane;Cytoskeleton NA PE1 12 +NX_Q92731 530 59216 8.81 0 Nucleus;Nucleoplasm NA PE1 14 +NX_Q92733 491 52418 5.02 0 Nucleus speckle;Nucleus NA PE1 1 +NX_Q92734 400 43448 4.94 0 Cytosol;Cytoplasmic vesicle;Endoplasmic reticulum Neuropathy, hereditary motor and sensory, Okinawa type;Spastic paraplegia 57, autosomal recessive PE1 3 +NX_Q92736 4967 564567 5.73 6 Cell membrane;Nucleoplasm;Cytosol;Sarcoplasmic reticulum membrane;Sarcoplasmic reticulum;Membrane Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy;Arrhythmogenic right ventricular dysplasia, familial, 2 PE1 1 +NX_Q92737 203 22541 9.79 0 Cell membrane;Nucleolus NA PE1 22 +NX_Q92738 828 94104 9.1 0 Cytoplasmic vesicle;Golgi apparatus NA PE1 10 +NX_Q92743 480 51287 8.09 0 Cell membrane;Cell membrane;Secreted;Cytosol Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2;Macular degeneration, age-related, 7;Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy PE1 10 +NX_Q92747 370 41569 8.46 0 Cytoskeleton;Cell membrane;Cell junction;Cytosol;Cytoskeleton NA PE1 7 +NX_Q92748 146 16561 4.79 0 Cytoplasm;Nucleus;Nucleoplasm NA PE1 11 +NX_Q92750 862 91091 9.59 0 Cytoplasm;Nucleoplasm;Nucleolus;Nucleus Spermatogenic failure 13 PE1 18 +NX_Q92752 1358 149562 4.71 0 Extracellular matrix NA PE1 1 +NX_Q92753 470 53220 7.78 0 Nucleus;Nucleus NA PE1 9 +NX_Q92754 450 49177 7.72 0 Nucleus;Nucleoplasm NA PE1 20 +NX_Q92759 462 52186 9.12 0 Nucleus speckle;Nucleus NA PE1 6 +NX_Q92764 455 50361 4.85 0 NA NA PE1 17 +NX_Q92765 325 36254 8.82 0 Secreted Osteoarthritis 1 PE1 2 +NX_Q92766 1687 181420 6.54 0 Nucleus speckle;Nucleolus;Nucleus speckle NA PE1 6 +NX_Q92769 488 55364 5.59 0 Cytoplasm;Nucleus;Cytoplasm;Nucleus;Nucleus NA PE1 6 +NX_Q92771 950 106006 8.57 0 Nucleus NA PE5 12 +NX_Q92772 493 56019 8.45 0 Cytoplasm;Nucleus;Centrosome;Nucleus NA PE1 4 +NX_Q92777 582 62847 8.58 0 Nucleoplasm;Synapse Schizophrenia PE1 3 +NX_Q92781 318 34979 9.47 0 Cytosol;Cytoplasmic vesicle;Endoplasmic reticulum lumen;Membrane Fundus albipunctatus PE1 12 +NX_Q92782 380 42502 6.47 0 Cytosol;Mitochondrion;Nucleus;Cytoplasm;Nucleoplasm NA PE1 19 +NX_Q92783 540 59180 4.7 0 Early endosome membrane;Cytoplasm;Cytoplasmic vesicle NA PE1 10 +NX_Q92784 378 43084 6.01 0 Nucleoplasm;Nucleus NA PE1 14 +NX_Q92785 391 44155 5.94 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 11 +NX_Q92786 737 83203 6.74 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q92791 437 50381 4.68 0 Endoplasmic reticulum NA PE1 17 +NX_Q92793 2442 265351 8.83 0 Nucleoplasm;Nucleus;Nucleus;Cytoplasm Rubinstein-Taybi syndrome 1 PE1 16 +NX_Q92794 2004 225028 5.5 0 Nucleus;Nucleolus;PML body;Nucleus speckle;Nucleolus;Nucleoplasm;Cytosol Mental retardation, autosomal dominant 32 PE1 8 +NX_Q92796 817 90314 6.56 0 Nucleus;Nucleolus Mental retardation, X-linked 90 PE1 X +NX_Q92797 1274 141148 5.82 0 Tight junction;Cytosol;Cytoskeleton;Cell membrane;Cell junction;Nucleoplasm;Cell membrane;Nucleoplasm NA PE1 19 +NX_Q92800 747 85271 8.01 0 Nucleus;Nucleoplasm NA PE1 17 +NX_Q92802 583 67459 5.96 0 Nucleoplasm NA PE1 13 +NX_Q92804 592 61830 8.04 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 17 +NX_Q92805 767 88184 5.24 0 Golgi stack membrane;Golgi apparatus NA PE1 9 +NX_Q92806 393 44020 4.86 2 Membrane NA PE1 1 +NX_Q92813 273 30552 8.18 1 Cytosol;Nucleoplasm;Membrane NA PE1 14 +NX_Q92817 2033 231604 6.56 0 Cytosol;Cytoskeleton;Desmosome;Cornified envelope;Cytoskeleton NA PE1 17 +NX_Q92819 552 63566 8.85 7 Nucleus speckle;Membrane NA PE1 8 +NX_Q92820 318 35964 6.66 0 Lysosome;Melanosome;Extracellular space NA PE1 8 +NX_Q92823 1304 143890 5.45 1 Cell membrane;Secreted;Axon NA PE1 7 +NX_Q92824 1860 206942 5.71 1 Golgi apparatus;Golgi apparatus;Endomembrane system;Secreted NA PE1 9 +NX_Q92826 284 30676 9.15 0 Nucleoplasm;Nucleus Prostate cancer PE1 17 +NX_Q92828 525 59763 8.24 0 Cell membrane;Cytosol NA PE1 9 +NX_Q92830 837 93926 9.18 0 Nucleus NA PE1 17 +NX_Q92831 832 93013 9.16 0 Nucleus;Nucleus NA PE1 3 +NX_Q92832 810 89635 5.66 0 Cytoplasm;Nucleus envelope;Secreted NA PE1 11 +NX_Q92833 1246 138734 9.46 0 Nucleus;Mitochondrion;Nucleus NA PE1 6 +NX_Q92834 1020 113387 4.79 0 Golgi apparatus;Cilium axoneme;Flagellum axoneme;Golgi apparatus;Centrosome;Cilium basal body Macular degeneration, X-linked, atrophic;Retinitis pigmentosa and sinorespiratory infections with or without deafness;Cone-rod dystrophy, X-linked 1;Retinitis pigmentosa 3 PE1 X +NX_Q92835 1189 133292 7.38 0 Cytoplasm;Cytosol;Membrane raft;Cell membrane;Cytoskeleton;Membrane NA PE1 2 +NX_Q92837 279 29093 7.65 0 Cytoplasm;Cytoplasmic vesicle;Cytosol NA PE1 10 +NX_Q92838 391 41294 8.54 1 Lipid droplet;Cell membrane;Secreted;Cytoplasmic vesicle Ectodermal dysplasia 1, hypohidrotic, X-linked;Tooth agenesis, selective, X-linked, 1 PE1 X +NX_Q92839 578 64832 9.35 7 Nucleoplasm;Cell membrane;Membrane NA PE2 19 +NX_Q92841 729 80272 8.53 0 Nucleus speckle;Nucleolus;Nucleus;Cytosol NA PE1 22 +NX_Q92843 193 20746 5.21 0 Mitochondrion membrane NA PE1 14 +NX_Q92844 425 47816 5.46 0 Cytosol;Nucleolus;Cytoplasm NA PE1 2 +NX_Q92845 792 91205 4.96 0 NA NA PE1 1 +NX_Q92847 366 41329 8.65 7 Cell membrane Growth hormone deficiency, isolated partial PE1 3 +NX_Q92851 521 58951 6.95 0 Golgi apparatus;Cytoplasmic vesicle Familial non-Hodgkin lymphoma;Gastric cancer;Autoimmune lymphoproliferative syndrome 2A PE1 2 +NX_Q92854 862 96150 8.25 1 Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane NA PE1 9 +NX_Q92858 354 38160 8.26 0 Nucleus NA PE2 4 +NX_Q92859 1461 160017 6.08 1 Nucleoplasm;Golgi apparatus;Cell membrane;Cell membrane NA PE1 15 +NX_Q92870 758 83374 5.74 0 Mitochondrion NA PE1 4 +NX_Q92871 262 29747 5.53 0 Cytoplasm NA PE1 22 +NX_Q92874 299 32853 4.8 0 Endoplasmic reticulum;Mitochondrion;Cytoplasm;Secreted NA PE1 16 +NX_Q92876 244 26856 7.15 0 Nucleolus;Cytoskeleton;Secreted;Cytoplasm;Nucleoplasm;Nucleus membrane;Microsome;Mitochondrion NA PE1 19 +NX_Q92878 1312 153892 6.47 0 Nucleoplasm;Nucleus;Telomere Nijmegen breakage syndrome-like disorder PE1 5 +NX_Q92879 486 52063 8.7 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 11 +NX_Q92882 214 23787 5.46 0 Cytosol;Cytoplasm NA PE1 9 +NX_Q92886 237 25718 6.9 0 Nucleus NA PE1 5 +NX_Q92887 1545 174207 8.57 17 Apical cell membrane Dubin-Johnson syndrome PE1 10 +NX_Q92888 912 102435 5.47 0 Cytoplasm;Cytosol;Cell membrane;Membrane NA PE1 19 +NX_Q92889 916 104486 6.5 0 Nucleus;Nucleoplasm;Nucleus Xeroderma pigmentosum complementation group F;XFE progeroid syndrome;Fanconi anemia complementation group Q;Xeroderma pigmentosum type F/Cockayne syndrome PE1 16 +NX_Q92890 307 34500 6.27 0 Endoplasmic reticulum;Nucleus;Cytosol NA PE1 22 +NX_Q92896 1179 134552 6.52 1 Golgi apparatus membrane;Golgi apparatus NA PE1 16 +NX_Q92900 1129 124345 6.18 0 Cytoplasm;P-body;Nucleoplasm;Nucleus NA PE1 19 +NX_Q92901 407 46296 10.45 0 Nucleus speckle NA PE1 16 +NX_Q92902 700 79292 5.62 0 NA Hermansky-Pudlak syndrome 1 PE1 10 +NX_Q92903 461 53304 8.29 6 Nucleus membrane;Nucleus;Endoplasmic reticulum membrane NA PE1 4 +NX_Q92904 295 33178 8.92 0 Nucleus;Cytoplasm NA PE1 3 +NX_Q92905 334 37579 6.1 0 Nucleus;Perinuclear region;Synaptic vesicle;Nucleoplasm;Cytosol NA PE1 8 +NX_Q92908 595 60033 8.68 0 Nucleus;Nucleus Pancreatic agenesis and congenital heart defects;Atrioventricular septal defect 5;Tetralogy of Fallot;Atrial septal defect 9;Conotruncal heart malformations PE1 18 +NX_Q92911 643 68666 7.37 13 Membrane Thyroid dyshormonogenesis 1 PE1 19 +NX_Q92913 245 27564 9.92 0 Cytosol;Nucleolus;Cytoplasm;Nucleus;Dendrite;Growth cone;Filopodium NA PE1 X +NX_Q92914 225 25005 9.92 0 Centrosome NA PE2 17 +NX_Q92915 247 27702 10.11 0 Nucleus;Nucleolus Spinocerebellar ataxia 27 PE1 13 +NX_Q92917 476 52229 5.85 0 Nucleus;Nucleoplasm NA PE1 X +NX_Q92918 833 91296 8.65 0 Nucleoplasm;Cell membrane NA PE1 19 +NX_Q92922 1105 122867 5.51 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q92925 531 58921 9.66 0 Nucleoplasm;Nucleus Specific granule deficiency 2 PE1 17 +NX_Q92928 201 22017 5.25 0 Membrane;Cytoplasm NA PE5 9 +NX_Q92930 207 23584 9.15 0 Cytoplasmic vesicle;Nucleoplasm;Cell membrane;Phagosome;Phagosome membrane NA PE1 15 +NX_Q92932 1015 111271 5.55 1 Secretory vesicle membrane;Synaptic vesicle membrane;Secretory vesicle membrane;Cell membrane;Cytoplasmic vesicle NA PE1 7 +NX_Q92934 168 18392 6.6 0 Mitochondrion outer membrane;Mitochondrion;Cytoplasm NA PE1 11 +NX_Q92935 676 74697 8.51 1 Endoplasmic reticulum membrane NA PE1 1 +NX_Q92945 711 73115 6.85 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 19 +NX_Q92947 438 48127 8.31 0 Mitochondrion;Mitochondrion matrix Glutaric aciduria 1 PE1 19 +NX_Q92949 421 45247 5.04 0 Nucleus Allergic rhinitis PE1 17 +NX_Q92952 543 59987 9.04 6 Cytosol;Cytoskeleton;Membrane NA PE2 19 +NX_Q92953 911 102563 5.81 6 Midbody;Cell membrane;Nucleolus;Cell membrane;Perikaryon;Dendrite NA PE1 8 +NX_Q92954 1404 151077 9.53 0 Secreted Camptodactyly-arthropathy-coxa vara-pericarditis syndrome PE1 1 +NX_Q92956 283 30392 6.93 1 Cytosol;Membrane;Cytoplasm NA PE1 1 +NX_Q92959 643 70044 9.13 12 Cell membrane Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 PE1 3 +NX_Q92963 219 25145 9.2 0 Cell membrane Noonan syndrome 8 PE1 1 +NX_Q92966 411 46753 5.12 0 Nucleus;Nucleus;Nucleus NA PE1 9 +NX_Q92968 403 44130 7.77 1 Cytoplasmic vesicle;Peroxisome membrane Peroxisome biogenesis disorder 11A;Peroxisome biogenesis disorder complementation group 13;Peroxisome biogenesis disorder 11B PE1 2 +NX_Q92973 898 102355 4.83 0 Cytosol;Cytoplasm;Cytosol;Nucleoplasm;Nucleus NA PE1 5 +NX_Q92974 986 111543 6.89 0 Cytoskeleton;Tight junction;Cytoskeleton;Cytoplasm;Golgi apparatus;Spindle;Ruffle membrane;Cytoplasmic vesicle Neurodevelopmental disorder with midbrain and hindbrain malformations PE1 1 +NX_Q92979 244 26720 9.28 0 Nucleolus;Nucleolus;Nucleus Bowen-Conradi syndrome PE1 12 +NX_Q92982 152 16345 5.83 2 Membrane NA PE1 9 +NX_Q92985 503 54278 5.89 0 Nucleus;Nucleoplasm;Cytosol;Cytoplasm Immunodeficiency 39 PE1 11 +NX_Q92988 240 26263 9.25 0 Nucleoplasm;Nucleus Non-syndromic orofacial cleft 15 PE1 17 +NX_Q92989 425 47646 6.2 0 Nucleus;Nucleoplasm Pontocerebellar hypoplasia 10 PE1 11 +NX_Q92990 594 68208 5.24 0 Cytosol;Nucleoplasm Glomuvenous malformations PE1 1 +NX_Q92993 513 58582 8.75 0 Nucleolus;Perinuclear region;Nucleus;Nucleoplasm NA PE1 11 +NX_Q92994 677 73840 5.29 0 Nucleoplasm;Nucleus;Nucleus Cerebellofaciodental syndrome PE1 14 +NX_Q92995 863 97327 5.33 0 Nucleoplasm;Cytosol NA PE1 3 +NX_Q92997 716 78055 6.18 0 Cytoskeleton;Centrosome;Cytoplasm;Midbody ring Robinow syndrome, autosomal dominant 3 PE1 3 +NX_Q93008 2570 292280 5.52 0 Growth cone;Cytoplasm;Cytoplasmic vesicle Mental retardation, X-linked 99 PE1 X +NX_Q93009 1102 128302 5.33 0 Nucleus;Chromosome;Nucleus;Cytoplasm;PML body NA PE1 16 +NX_Q93015 286 31445 7.75 0 Cytoplasm NA PE1 3 +NX_Q93033 1021 115109 6.51 1 Membrane NA PE1 1 +NX_Q93034 780 90955 8.08 0 Cytosol;Golgi apparatus NA PE1 11 +NX_Q93038 417 45385 6.01 1 Cell membrane;Cell junction;Secreted NA PE1 1 +NX_Q93045 179 20828 8.4 0 Endoplasmic reticulum;Cytoplasmic vesicle;Cytoplasm;Perinuclear region;Growth cone;Membrane;Axon;Golgi apparatus;Endosome;Lamellipodium NA PE1 8 +NX_Q93050 837 96413 6.02 8 Cell membrane;Cytosol;Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Nucleus speckle;Melanosome;Golgi apparatus NA PE1 17 +NX_Q93052 612 65746 7.18 0 Cytosol;Nucleus;Cytoplasm;Focal adhesion;Cell junction;Cell membrane NA PE1 3 +NX_Q93062 196 21802 7.77 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm;P-body NA PE1 8 +NX_Q93063 718 82255 6.12 1 Golgi apparatus;Golgi apparatus membrane;Endoplasmic reticulum membrane Hereditary multiple exostoses 2;Potocki-Shaffer syndrome;Seizures, scoliosis, and macrocephaly syndrome PE1 11 +NX_Q93070 314 35878 9.31 0 Cytoplasm;Cell membrane NA PE1 12 +NX_Q93073 1101 121776 5.76 0 Nucleoplasm NA PE1 15 +NX_Q93074 2177 243081 6.63 0 Nucleoplasm;Nucleus Opitz-Kaveggia syndrome;Lujan-Fryns syndrome;Ohdo syndrome, X-linked PE1 X +NX_Q93075 761 85023 7.07 0 Nucleus;Nucleus speckle;Cytosol;Nucleus NA PE1 3 +NX_Q93077 130 14105 11.05 0 Chromosome;Nucleus NA PE1 6 +NX_Q93079 126 13892 10.31 0 Chromosome;Nucleus NA PE1 6 +NX_Q93083 61 6062 8.38 0 NA NA PE1 16 +NX_Q93084 1043 113977 5.42 10 Nucleus membrane;Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane NA PE1 17 +NX_Q93086 422 47205 7.46 2 Cytosol;Membrane NA PE1 17 +NX_Q93088 406 44998 6.58 0 Cytoplasm;Cytosol NA PE1 5 +NX_Q93091 150 17196 9.09 0 Secreted NA PE1 14 +NX_Q93096 173 19815 9.17 0 Cell membrane;Spindle;Cytoplasm;Endoplasmic reticulum;Early endosome NA PE1 6 +NX_Q93097 391 43770 9.32 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 1 +NX_Q93098 351 38721 8.93 0 Extracellular matrix NA PE2 10 +NX_Q93099 445 49964 6.5 0 Nucleus;Nucleolus Alkaptonuria PE1 3 +NX_Q93100 1093 124884 6.5 0 Golgi apparatus;Cell membrane Glycogen storage disease 9B PE1 16 +NX_Q95365 362 40416 5.89 1 Membrane NA PE1 6 +NX_Q95460 341 39366 5.87 1 Cell membrane;Cell membrane;Endoplasmic reticulum membrane;Secreted;Endoplasmic reticulum;Cell membrane NA PE1 1 +NX_Q95604 372 41238 6.33 1 Membrane NA PE1 6 +NX_Q95IE3 266 29878 7.69 1 Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane;Late endosome membrane NA PE1 6 +NX_Q969D9 159 18141 9.75 0 Secreted NA PE1 5 +NX_Q969E1 77 8814 10.31 0 Secreted NA PE1 5 +NX_Q969E2 229 25728 9.07 4 Cytoplasmic vesicle;Membrane;Golgi apparatus;Cell membrane;Lipid droplet NA PE1 19 +NX_Q969E3 161 17961 10.41 0 Secreted NA PE1 10 +NX_Q969E4 200 22502 4.85 0 Nucleus NA PE1 X +NX_Q969E8 191 20894 4.25 0 Cytosol;Nucleolus;Cell junction;Nucleus Diamond-Blackfan anemia 14, with mandibulofacial dysostosis PE1 X +NX_Q969F0 183 20712 9.51 1 Endoplasmic reticulum;Mitochondrion outer membrane;Mitochondrion;Endoplasmic reticulum membrane NA PE1 X +NX_Q969F1 213 24049 4.13 0 Nucleoplasm;Nucleus;Nucleus NA PE1 6 +NX_Q969F2 451 50055 7.83 0 Cell membrane;Cytoplasm;Cytoplasmic vesicle NA PE1 5 +NX_Q969F8 398 42586 9.93 7 Cell membrane;Cell membrane;Cytoplasmic vesicle Precocious puberty, central 1;Hypogonadotropic hypogonadism 8 with or without anosmia PE1 19 +NX_Q969F9 1004 113736 6.01 0 Golgi apparatus;Cytoplasm;Cytosol;Cell membrane Hermansky-Pudlak syndrome 3 PE1 3 +NX_Q969G2 390 43124 7.52 0 Nucleus speckle;Nucleus Pituitary hormone deficiency, combined, 4 PE1 1 +NX_Q969G3 411 46649 4.85 0 Nucleus;Nucleus;Nucleoplasm Coffin-Siris syndrome 5;Meningioma PE1 17 +NX_Q969G5 261 27701 6.05 0 Cell membrane;Cytoplasm;Cytosol;Caveola NA PE1 11 +NX_Q969G6 155 17623 7.85 0 Golgi apparatus;Cytoplasm NA PE1 9 +NX_Q969G9 470 52285 8.82 0 Nucleolus;Cell membrane;Cytoplasm NA PE1 16 +NX_Q969H0 707 79663 5.5 0 Cytoplasmic vesicle;Nucleoplasm;Nucleoplasm;Cytoplasm;Nucleolus NA PE1 4 +NX_Q969H4 720 79706 5.22 0 Cytosol;Cytoplasm;Membrane NA PE1 1 +NX_Q969H6 163 18820 6.89 0 Nucleolus;Nucleus;Nucleolus NA PE1 12 +NX_Q969H8 173 18795 6.2 0 Secreted;Endoplasmic reticulum-Golgi intermediate compartment NA PE1 19 +NX_Q969H9 104 11440 8.68 0 Cytosol NA PE2 2 +NX_Q969I3 302 35101 6.41 0 Cytosol;Golgi apparatus NA PE1 11 +NX_Q969I6 547 60764 6.02 10 Cell membrane NA PE1 12 +NX_Q969J2 545 61579 7.56 0 Nucleus NA PE1 6 +NX_Q969J3 196 22222 5.97 0 Cytosol;Lysosome membrane NA PE1 12 +NX_Q969J5 263 30550 8.31 0 Secreted NA PE1 6 +NX_Q969K3 372 41641 4.83 0 Cell membrane;Nucleoplasm;Endomembrane system;Nucleus;Nucleus;Nucleus speckle;Cytosol NA PE1 12 +NX_Q969K4 478 53979 5.15 0 Cytosol;Nucleolus;Cytoplasm NA PE1 3 +NX_Q969K7 222 23772 8.06 4 Cytoplasmic vesicle;Membrane NA PE1 1 +NX_Q969L2 176 19125 5.76 4 Endomembrane system;Perinuclear region;Cell membrane;Apical cell membrane NA PE1 8 +NX_Q969L4 123 14080 9.3 0 Nucleus;Nucleus;Nucleus NA PE1 1 +NX_Q969M1 308 33917 6.73 0 Nucleus;Cytoplasm;Mitochondrion outer membrane NA PE1 1 +NX_Q969M2 543 61872 7.89 4 Cell membrane;Gap junction NA PE2 6 +NX_Q969M3 257 27989 4.18 5 Golgi apparatus;Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum;COPII-coated vesicle;Endoplasmic reticulum membrane;cis-Golgi network membrane NA PE1 5 +NX_Q969M7 185 21077 6.31 0 Cytosol NA PE1 2 +NX_Q969N2 578 65700 8.64 1 Endoplasmic reticulum membrane Paroxysmal nocturnal hemoglobinuria 2;Multiple congenital anomalies-hypotonia-seizures syndrome 3 PE1 20 +NX_Q969N4 342 38029 6.42 7 Cell membrane NA PE2 6 +NX_Q969P0 613 65034 8.23 1 Cell membrane NA PE1 1 +NX_Q969P5 355 41637 9.45 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA PE1 8 +NX_Q969P6 601 69872 9.46 0 Mitochondrion;Mitochondrion NA PE1 8 +NX_Q969Q0 106 12469 10.67 0 Cytoplasm NA PE1 14 +NX_Q969Q1 353 40248 4.85 0 Cytoplasm;Nucleus;M line;Z line NA PE1 1 +NX_Q969Q4 196 21391 5.96 0 NA Leukemia, chronic lymphocytic PE1 13 +NX_Q969Q5 203 23124 5.85 0 Focal adhesion;Cytosol;Membrane NA PE1 5 +NX_Q969Q6 453 53316 5.07 0 Nucleus;Nucleus;Cytoplasm;Golgi apparatus NA PE1 14 +NX_Q969R2 916 101266 6.1 0 Membrane;Cytosol NA PE1 22 +NX_Q969R5 705 79110 6.4 0 Nucleus;Nucleoplasm;Nucleus NA PE1 22 +NX_Q969R8 447 49313 5.06 0 Lysosome membrane;Nucleoplasm;Endoplasmic reticulum;Cytoskeleton NA PE1 12 +NX_Q969S0 331 37424 9.24 11 Golgi apparatus membrane NA PE1 7 +NX_Q969S2 332 36826 6.32 0 Nucleus;Nucleolus;Nucleus;Nucleus NA PE1 8 +NX_Q969S3 477 54272 5.8 0 Golgi apparatus;Nucleus;Nucleolus;Cytosol;Cytoplasm;Nucleus NA PE1 5 +NX_Q969S6 136 15760 8.8 4 Endoplasmic reticulum membrane NA PE1 9 +NX_Q969S8 669 71445 5.44 0 Nucleus;Cytoplasm;Nucleolus NA PE1 22 +NX_Q969S9 779 86601 6.08 0 Mitochondrion NA PE1 5 +NX_Q969T3 373 41365 5.11 0 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Early endosome membrane;Microtubule organizing center NA PE1 20 +NX_Q969T4 207 22913 6.73 0 Nucleus;Cytoplasm NA PE1 2 +NX_Q969T7 300 34389 5.95 0 Cytoplasm NA PE1 17 +NX_Q969T9 261 28087 5.65 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Deafness, autosomal recessive, 107 PE1 17 +NX_Q969U6 566 63922 5.89 0 Mitochondrion;Cytoplasm NA PE1 9 +NX_Q969U7 264 29396 6.61 0 Nucleus;Nucleus;Nucleus NA PE1 18 +NX_Q969V1 340 38849 9.09 7 Cell membrane NA PE1 6 +NX_Q969V3 563 62974 6.4 1 Endoplasmic reticulum;Lipid droplet;Endoplasmic reticulum membrane;Nucleoplasm NA PE1 19 +NX_Q969V4 418 48283 5.98 0 Flagellum axoneme;Cilium axoneme NA PE1 17 +NX_Q969V5 352 39800 8.46 2 Mitochondrion;Cytosol;Mitochondrion;Nucleoplasm;Mitochondrion outer membrane;Peroxisome NA PE1 1 +NX_Q969V6 931 98919 5.59 0 Cytosol;Nucleus;Nucleoplasm;Cytoplasm NA PE1 22 +NX_Q969W0 71 8466 6.7 2 Endoplasmic reticulum membrane NA PE1 14 +NX_Q969W1 377 43633 9.71 4 Cytosol;Nucleus;Endoplasmic reticulum membrane;Nucleus membrane NA PE1 10 +NX_Q969W3 186 19484 11.26 0 Cytosol;Nucleoplasm NA PE1 17 +NX_Q969W8 418 49219 8.36 0 Nucleus;Nucleus NA PE1 19 +NX_Q969W9 287 31609 6.41 1 Cytoplasmic vesicle;Golgi apparatus membrane;Early endosome membrane NA PE1 20 +NX_Q969X0 211 23986 4.95 0 Cytosol;Cilium;Cytosol;Centrosome NA PE1 12 +NX_Q969X1 311 34607 7.6 7 Cytoplasmic vesicle;Membrane;Lysosome membrane;Endosome membrane NA PE1 2 +NX_Q969X2 333 38068 9.91 1 Nucleus;Golgi apparatus membrane NA PE1 9 +NX_Q969X5 290 32592 6.59 2 Centrosome;Golgi apparatus membrane;Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 5 +NX_Q969X6 686 76890 9.03 0 Nucleolus;Nucleolus;Chromosome NA PE1 16 +NX_Q969Y0 559 63800 9.05 0 Nucleoplasm;Cytoplasmic vesicle;Secreted NA PE1 3 +NX_Q969Y2 492 52058 6.03 0 Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 23 PE1 19 +NX_Q969Z0 631 70738 6.98 0 Mitochondrion;Mitochondrion NA PE1 7 +NX_Q969Z3 335 38023 9.32 0 Mitochondrion;Peroxisome;Mitochondrion outer membrane NA PE1 1 +NX_Q969Z4 430 46092 8.75 1 Nucleus;Cell membrane;Cytoplasm NA PE1 11 +NX_Q96A00 147 16693 9.41 0 Nucleus;Cytoplasm;Cytoplasm;Nucleoplasm;Nucleus NA PE1 19 +NX_Q96A04 125 13670 9.18 0 Nucleus;Nucleus NA PE1 1 +NX_Q96A05 226 26074 8.79 0 NA NA PE1 2 +NX_Q96A08 127 14167 10.31 0 Nucleus;Chromosome NA PE1 6 +NX_Q96A09 425 46688 8.39 0 NA NA PE1 1 +NX_Q96A11 431 48956 9.96 1 Golgi stack membrane NA PE1 11 +NX_Q96A19 550 62596 5.49 0 Nucleus;Nucleoplasm NA PE1 16 +NX_Q96A22 123 13921 9.51 0 Cell junction NA PE1 11 +NX_Q96A23 557 62395 5.92 0 Cytosol;Nucleoplasm NA PE1 3 +NX_Q96A25 262 28920 6.74 1 Membrane NA PE1 17 +NX_Q96A26 154 17342 9.81 1 Cytosol;Mitochondrion;Membrane;Mitochondrion NA PE1 3 +NX_Q96A28 289 32436 7.58 1 Membrane NA PE2 1 +NX_Q96A29 364 39809 8.66 8 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2C PE1 11 +NX_Q96A32 169 19015 4.91 0 NA NA PE1 16 +NX_Q96A33 483 55874 4.76 1 Endoplasmic reticulum;Membrane NA PE1 17 +NX_Q96A35 216 24915 9.33 0 Mitochondrion NA PE1 1 +NX_Q96A37 237 26122 8.42 0 Cytosol;Cell membrane;Nucleoplasm NA PE1 16 +NX_Q96A44 273 30179 9.39 0 Cytoplasm;Nucleoplasm;Cell membrane NA PE1 3 +NX_Q96A46 364 39272 8.86 6 Mitochondrion inner membrane NA PE1 10 +NX_Q96A47 359 39768 8.64 0 Cytoplasm;Nucleus NA PE1 15 +NX_Q96A49 352 39933 4.45 0 Cytosol;Nucleoplasm;Golgi apparatus NA PE1 X +NX_Q96A54 375 42616 6.53 7 Cell membrane NA PE1 1 +NX_Q96A56 240 27366 4.75 0 Cytosol;Cytosol;Nucleus;PML body;Autophagosome NA PE1 8 +NX_Q96A57 120 13188 9.3 2 Endoplasmic reticulum;Membrane;trans-Golgi network;Synaptic vesicle;Early endosome;Recycling endosome;Late endosome;Autophagosome Parkinson disease PE1 20 +NX_Q96A58 199 22608 6.91 0 Cytoplasm NA PE1 12 +NX_Q96A59 401 44911 8.84 4 Cytoplasmic vesicle;Cytoskeleton;Membrane;Tight junction NA PE1 16 +NX_Q96A61 297 34653 4.14 0 Nucleolus;Cytoskeleton NA PE1 5 +NX_Q96A65 974 110498 6.07 0 Cytoplasm;Midbody ring;Cell projection;Nucleolus;Nucleus NA PE1 7 +NX_Q96A70 460 49980 5.4 0 Cytosol;Dendrite;Axon;Cytoplasmic granule;trans-Golgi network;Cytoplasmic vesicle;Membrane;Endoplasmic reticulum-Golgi intermediate compartment;cis-Golgi network;Perikaryon;Perinuclear region;Nucleus;Cytoplasm NA PE1 1 +NX_Q96A72 148 17276 5.96 0 Nucleus NA PE1 12 +NX_Q96A73 305 33247 9.39 0 Cytoplasm;Nucleoplasm;Cytoplasm NA PE1 5 +NX_Q96A83 441 45381 7.02 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 7 +NX_Q96A84 441 45292 9.31 0 Extracellular matrix NA PE1 22 +NX_Q96A98 100 11202 11.83 0 Secreted NA PE1 19 +NX_Q96A99 478 52339 9.64 0 Cytosol;Secreted NA PE2 16 +NX_Q96AA3 541 60335 9.07 12 Cytoplasmic vesicle;Membrane Congenital disorder of glycosylation 1N PE1 3 +NX_Q96AA8 810 94934 5.88 0 Golgi apparatus;Golgi apparatus NA PE1 5 +NX_Q96AB3 205 22337 7.67 0 Cytosol;Nucleus;Cytoplasm;Mitochondrion NA PE1 19 +NX_Q96AB6 310 34677 5.82 0 Cytoplasm;Golgi apparatus;Nucleoplasm;Cytoplasm NA PE1 16 +NX_Q96AC1 680 77861 6.26 0 Cell cortex;Cytoskeleton;Focal adhesion;Focal adhesion;Nucleoplasm;Membrane;Lamellipodium membrane;Nucleus;I band;Cell surface;Cytoplasm NA PE1 14 +NX_Q96AC6 838 90147 9.62 0 Cytosol;Nucleoplasm;Cytoskeleton NA PE1 8 +NX_Q96AD5 504 55316 6.65 1 Nucleoplasm;Lipid droplet;Cell membrane;Lipid droplet Neutral lipid storage disease with myopathy PE1 11 +NX_Q96AE4 644 67560 7.18 0 Nucleus;Nucleus;Nucleoplasm NA PE1 1 +NX_Q96AE7 1141 129558 6.11 0 Cell membrane;Cytosol;Cytoplasm;Cell membrane;Cytoskeleton NA PE1 11 +NX_Q96AG3 418 46174 6.97 6 Mitochondrion;Mitochondrion outer membrane Neuropathy, hereditary motor and sensory, 6B PE1 5 +NX_Q96AG4 307 34930 9.61 1 Endoplasmic reticulum;Microsome membrane;Endoplasmic reticulum membrane;Nucleus envelope;Endoplasmic reticulum NA PE1 17 +NX_Q96AH0 204 22423 9.63 0 Nucleoplasm;Nucleus;Cytosol NA PE1 2 +NX_Q96AH8 199 22511 6.31 0 Late endosome;Lysosome;Golgi apparatus;trans-Golgi network;Phagosome;Phagosome membrane NA PE1 1 +NX_Q96AJ1 413 48125 4.68 0 Nucleoplasm;Nucleus;Cilium;Cytoplasmic vesicle NA PE1 16 +NX_Q96AJ9 217 25218 6.06 1 Golgi apparatus;Cytoplasmic vesicle;Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 10 +NX_Q96AK3 386 46598 8.73 0 Cytoplasm;P-body NA PE1 22 +NX_Q96AM1 343 38171 8.96 7 Nucleus membrane;Cell membrane;Cell membrane NA PE1 11 +NX_Q96AN5 459 51715 9.69 2 Membrane;Nucleolus NA PE1 19 +NX_Q96AP0 544 57733 6.29 0 Nucleus;Telomere;Nucleus Dyskeratosis congenita, autosomal recessive, 7;Dyskeratosis congenita, autosomal dominant, 6 PE1 16 +NX_Q96AP4 578 65959 6.05 0 Cytosol;Nucleoplasm NA PE1 6 +NX_Q96AP7 390 41176 9.42 1 Cytoskeleton;Adherens junction;Tight junction;Cell membrane NA PE1 11 +NX_Q96AQ1 378 41605 10.52 0 Nucleus NA PE1 2 +NX_Q96AQ2 219 22172 8.32 4 Midbody;Cytosol;Membrane NA PE2 1 +NX_Q96AQ6 731 80643 5.21 0 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Nucleus NA PE1 1 +NX_Q96AQ7 238 26754 8.95 0 Nucleus;Endoplasmic reticulum;Lipid droplet Lipodystrophy, familial partial, 5 PE1 3 +NX_Q96AQ8 359 39694 9.67 2 Mitochondrion inner membrane NA PE1 6 +NX_Q96AQ9 280 30351 4.51 0 Cytosol;Cytoskeleton;Nucleolus NA PE1 1 +NX_Q96AT1 154 17465 5.86 0 Nucleus;Cytoskeleton NA PE1 3 +NX_Q96AT9 228 24928 5.33 0 NA NA PE1 2 +NX_Q96AV8 911 99888 8.33 0 Nucleus;Nucleus speckle NA PE1 12 +NX_Q96AW1 172 19224 8.77 1 Golgi apparatus;Cytoplasmic vesicle membrane NA PE1 7 +NX_Q96AX1 596 67611 6.5 0 Nucleoplasm;Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane;Early endosome;Autophagosome;Clathrin-coated vesicle Mucopolysaccharidosis-plus syndrome PE1 12 +NX_Q96AX2 223 24815 5.98 0 Cytoplasmic vesicle NA PE1 17 +NX_Q96AX9 1013 109939 8.81 0 Cytoplasm;Endosome NA PE1 1 +NX_Q96AY2 570 63252 6.7 0 Nucleus;Nucleolus;Cytosol NA PE1 17 +NX_Q96AY3 582 64245 5.36 0 Endoplasmic reticulum lumen;Cytoplasmic vesicle Bruck syndrome 1;Osteogenesis imperfecta 11 PE1 17 +NX_Q96AY4 2481 270884 6.42 0 Cytoskeleton;Centrosome;Spindle;Mitochondrion;Nucleolus;Spindle pole;Midbody NA PE1 22 +NX_Q96AZ1 226 24911 5.29 0 Nucleus;Golgi apparatus;Cytoplasm;Nucleoplasm;Centrosome;Cytoplasm NA PE1 12 +NX_Q96AZ6 181 20363 9.09 0 Cajal body;Nucleus;Cytoplasm;Nucleolus;Nucleus NA PE1 15 +NX_Q96B01 352 38457 9.18 0 Nucleus;Nucleus NA PE1 12 +NX_Q96B02 151 17331 7.64 0 Nucleolus;Nucleus NA PE1 8 +NX_Q96B18 629 64949 10.38 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 19 +NX_Q96B21 275 31826 6.45 7 Nucleoplasm;Cytosol;Membrane NA PE1 11 +NX_Q96B23 403 43324 4.77 0 Cytosol;Nucleoplasm NA PE1 18 +NX_Q96B26 276 30040 5.17 0 Cytoplasm;Nucleus;Nucleolus;Mitochondrion Pontocerebellar hypoplasia 1C PE1 13 +NX_Q96B33 292 31915 7.51 4 Cell membrane;Nucleus;Tight junction;Cell membrane NA PE1 8 +NX_Q96B36 256 27383 4.65 0 Cytosol;Cytosol NA PE1 19 +NX_Q96B42 140 16265 9.35 3 Mitochondrion;Cytoplasm;Nucleus membrane NA PE1 2 +NX_Q96B45 105 11564 6.27 0 Lysosome membrane;Cytosol;Nucleus speckle NA PE1 10 +NX_Q96B49 74 8002 4.66 0 Mitochondrion outer membrane;Mitochondrion NA PE1 6 +NX_Q96B54 188 20481 4.14 0 Nucleolus;Mitochondrion NA PE1 19 +NX_Q96B67 414 46395 6.16 0 Cytoplasm;Cell membrane;Lysosome;Endosome;Early endosome NA PE1 5 +NX_Q96B70 501 53167 8.01 0 Nucleolus NA PE1 19 +NX_Q96B77 213 24893 9.9 2 Mitochondrion;Cell junction;Membrane NA PE1 16 +NX_Q96B86 450 49347 7.18 0 Endoplasmic reticulum;Cell membrane;Nucleoplasm;Cytosol NA PE1 15 +NX_Q96B96 161 17522 5.05 3 Cytoplasmic vesicle;Membrane NA PE1 16 +NX_Q96B97 665 73126 6.24 0 Cytoplasm;Cell membrane;Cytoskeleton;Cytoplasm;Cytoplasmic vesicle membrane;Synaptosome;Focal adhesion;Cytosol NA PE1 X +NX_Q96BA8 519 57005 5.03 1 Cell membrane;Endoplasmic reticulum membrane;Cytosol;Nucleus Osteogenesis imperfecta 16 PE1 11 +NX_Q96BD0 722 77193 8.15 12 Cell membrane;Cell junction NA PE1 20 +NX_Q96BD5 680 74854 9.51 0 Nucleus NA PE1 11 +NX_Q96BD6 273 30942 8.34 0 Cytoplasm NA PE1 1 +NX_Q96BD8 255 29484 6.68 0 Cytoskeleton;Spindle;Kinetochore NA PE1 18 +NX_Q96BF3 282 30675 9.13 1 Cell membrane NA PE1 19 +NX_Q96BF6 587 62837 5.64 0 Nucleus;Nucleolus;Mitochondrion NA PE1 9 +NX_Q96BH1 459 51219 6.1 0 Nucleoplasm;Cytosol NA PE1 2 +NX_Q96BH3 223 26106 6.2 0 Secreted NA PE1 19 +NX_Q96BI1 424 44846 9.66 10 Apical cell membrane Lung cancer;Rhabdomyosarcoma, embryonal, 1 PE1 11 +NX_Q96BI3 265 28996 7.74 7 Endoplasmic reticulum membrane;Golgi stack membrane NA PE1 1 +NX_Q96BJ3 306 35023 6.13 0 Cytosol;Cytoskeleton;Cytoskeleton NA PE1 1 +NX_Q96BJ8 720 81467 5.94 0 Cell junction;Cytoplasm;Cell membrane NA PE1 16 +NX_Q96BK5 328 37035 9.61 0 Nucleus;Nucleolus;Telomere;Kinetochore NA PE1 8 +NX_Q96BM0 104 9549 9.7 3 Membrane NA PE1 14 +NX_Q96BM1 317 34295 9.59 0 NA NA PE1 14 +NX_Q96BM9 186 21416 7.63 0 Late endosome membrane;Lysosome membrane NA PE1 1 +NX_Q96BN2 335 37382 6.92 0 Focal adhesion;Nucleoplasm;Nucleus;Cytosol NA PE1 1 +NX_Q96BN6 582 64618 6.3 0 Nucleoplasm NA PE1 10 +NX_Q96BN8 352 40263 5.35 0 Cell membrane;Mitochondrion;Cytoplasm Autoinflammation, panniculitis, and dermatosis syndrome PE1 5 +NX_Q96BP2 118 13475 10.24 0 Nucleoplasm;Mitochondrion;Nucleolus;Mitochondrion;Nucleus NA PE1 10 +NX_Q96BP3 646 73575 6.7 0 Nucleus;Nucleus NA PE1 5 +NX_Q96BQ1 224 24963 9.42 0 Secreted NA PE1 3 +NX_Q96BQ3 446 52265 8.24 0 NA NA PE1 2 +NX_Q96BQ5 260 30834 9.26 0 Nucleus;Nucleolus NA PE1 5 +NX_Q96BR1 496 57108 6.45 0 Cytoplasmic vesicle;Early endosome;Recycling endosome NA PE1 8 +NX_Q96BR5 231 25709 5.66 0 Mitochondrion intermembrane space;Mitochondrion;Nucleus NA PE1 1 +NX_Q96BR6 464 52597 9.06 0 Nucleolus;Nucleus NA PE1 1 +NX_Q96BR9 441 50141 6.81 0 Focal adhesion;Nucleus;Nucleus speckle NA PE1 1 +NX_Q96BS2 214 24750 4.84 0 Cytosol;Cell membrane;Lamellipodium;Ruffle membrane;Nucleus;Nucleus;Cytoplasm;Membrane NA PE1 12 +NX_Q96BT1 292 33461 10.19 0 NA NA PE2 3 +NX_Q96BT3 561 60423 6.14 0 Centromere;Kinetochore;Nucleus;Nucleus NA PE1 16 +NX_Q96BT7 664 75208 8.21 0 Nucleus;Cytoplasm;Nucleus;Nucleoplasm NA PE1 11 +NX_Q96BU1 408 45582 5.02 0 Nucleus speckle;Nucleus NA PE1 1 +NX_Q96BV0 537 59752 10.23 0 Nucleus NA PE1 7 +NX_Q96BW1 309 33786 5.71 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 X +NX_Q96BW5 349 39018 6.07 0 Cytosol;Nucleoplasm NA PE1 10 +NX_Q96BW9 452 51067 8.23 0 Cytosol;Mitochondrion inner membrane NA PE1 3 +NX_Q96BX8 217 25464 8.81 0 NA NA PE1 19 +NX_Q96BY2 351 39513 5.21 0 Cytoplasm;Nucleus;Cell junction NA PE1 14 +NX_Q96BY6 2186 249531 6.72 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm;Dendritic spine NA PE1 2 +NX_Q96BY7 2078 232763 5.49 0 Nucleoplasm;Preautophagosomal structure membrane;Lipid droplet NA PE1 14 +NX_Q96BY9 339 36975 7.5 1 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum NA PE1 8 +NX_Q96BZ4 506 55626 8.61 1 Membrane NA PE1 14 +NX_Q96BZ8 264 30529 9.68 0 Cell membrane;Nucleus NA PE1 19 +NX_Q96BZ9 403 45855 6.37 2 Membrane Warburg micro syndrome 4 PE1 20 +NX_Q96C00 473 50602 6.29 0 Nucleus NA PE1 6 +NX_Q96C01 138 15641 7.56 0 Mitochondrion NA PE1 2 +NX_Q96C03 454 49269 5.01 1 Mitochondrion outer membrane NA PE1 17 +NX_Q96C10 678 76613 6.98 0 Nucleoplasm;Golgi apparatus;Cytosol;Cytoplasm NA PE1 17 +NX_Q96C11 551 59993 5.9 0 Cytoplasm;Nucleus;Nucleus;Nucleoplasm Amyotrophic lateral sclerosis PE1 1 +NX_Q96C12 935 97682 6.75 0 Nucleoplasm;Cytosol;Cytoplasm;Focal adhesion ACTH-independent macronodular adrenal hyperplasia 2 PE1 16 +NX_Q96C19 240 26697 5.15 0 Cytosol;Membrane raft NA PE1 1 +NX_Q96C23 342 37766 6.18 0 Cytoplasm;Nucleoplasm NA PE1 2 +NX_Q96C24 671 76024 9.1 0 Cytosol;Microtubule organizing center;Membrane;Nucleoplasm;Cell membrane;Secretory vesicle membrane NA PE1 X +NX_Q96C28 371 43088 9.73 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q96C34 613 67643 5.84 0 Nucleus speckle;Cytosol NA PE1 17 +NX_Q96C36 320 33637 7.66 0 Mitochondrion;Cytoplasm;Mitochondrion Leukodystrophy, hypomyelinating, 10 PE1 1 +NX_Q96C45 1275 142442 5.9 0 Cytosol;Nucleoplasm;Mitochondrion NA PE1 3 +NX_Q96C55 264 28709 9.07 0 Nucleus;Nucleus NA PE1 19 +NX_Q96C57 262 28171 9.44 0 Nucleus;Golgi apparatus;Nucleolus NA PE1 12 +NX_Q96C74 230 26107 7.62 0 Flagellum NA PE1 5 +NX_Q96C86 337 38609 5.93 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Al-Raqad syndrome PE1 11 +NX_Q96C90 147 15911 4.75 0 Cytoplasm;Cytoplasm NA PE1 11 +NX_Q96C92 435 47961 5.03 0 Cytoplasm;Midbody;Early endosome;Recycling endosome NA PE1 9 +NX_Q96CA5 298 32798 5.43 0 Microtubule organizing center;Nucleus;Golgi apparatus;Cytoplasm;Cytosol;Nucleus NA PE1 20 +NX_Q96CB5 159 18380 10.91 0 Nucleus;Nucleoplasm NA PE2 8 +NX_Q96CB8 462 48808 9.72 0 Cytosol;Nucleus;Nucleoplasm;Nucleus;Cell membrane NA PE1 4 +NX_Q96CB9 384 43089 8.47 0 Mitochondrion NA PE1 1 +NX_Q96CC6 855 97401 8.8 7 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE1 16 +NX_Q96CD0 374 40516 6.96 0 Golgi apparatus NA PE1 16 +NX_Q96CD2 204 22395 5.72 0 Cytosol NA PE1 15 +NX_Q96CE8 201 22277 7.4 4 Membrane;Cytoplasmic vesicle;Nucleolus NA PE2 3 +NX_Q96CF2 233 26411 5.83 0 Midbody ring;Late endosome membrane;Cytosol NA PE1 8 +NX_Q96CG3 184 21445 5.04 0 Cytosol;Nucleolus;Nucleus NA PE1 4 +NX_Q96CG8 243 26224 8.31 0 Extracellular matrix;Nucleoplasm Barrett esophagus PE1 8 +NX_Q96CH1 333 36580 8.55 7 Cell membrane NA PE2 7 +NX_Q96CJ1 260 28792 5.04 0 Nucleus speckle NA PE1 3 +NX_Q96CK0 615 67235 6.53 0 Cytosol;Nucleus;Nucleus NA PE1 19 +NX_Q96CM3 377 42205 9.9 0 Mitochondrion;Nucleoplasm;Mitochondrion matrix;Mitochondrion NA PE1 11 +NX_Q96CM4 212 23943 4.72 0 Nucleus outer membrane NA PE1 19 +NX_Q96CM8 615 68125 7.5 0 Cytosol;Cytoskeleton;Mitochondrion;Nucleoplasm NA PE1 17 +NX_Q96CN4 794 91376 5.25 0 Nucleus NA PE1 19 +NX_Q96CN5 670 75951 5.95 0 Cytosol;Centrosome;Nucleoplasm;Cell membrane;Centrosome NA PE1 17 +NX_Q96CN7 298 32237 6.96 0 Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle NA PE1 5 +NX_Q96CN9 775 87811 5.35 0 Cytosol;Golgi apparatus membrane;Cytoplasm;Cell membrane;Golgi apparatus NA PE1 7 +NX_Q96CP2 140 14564 8.6 0 Nucleus NA PE1 16 +NX_Q96CP6 724 80680 6.29 1 Cytosol;Membrane;Cell membrane NA PE1 19 +NX_Q96CP7 247 28548 9.54 4 Cell membrane;Cytoplasm;Cell membrane NA PE1 17 +NX_Q96CQ1 311 34283 8.8 6 Cytosol;Mitochondrion inner membrane;Nucleus;Mitochondrion NA PE1 3 +NX_Q96CS2 278 31863 5.41 0 Cytosol;Cytoplasm;Centrosome;Spindle;Spindle pole NA PE1 18 +NX_Q96CS3 445 52623 5.46 0 Lipid droplet;Endoplasmic reticulum;Cytoplasm;Lipid droplet;Endoplasmic reticulum NA PE1 5 +NX_Q96CS4 500 56907 9.89 0 Nucleolus;Nucleus;Nucleus NA PE1 16 +NX_Q96CS7 222 24736 5.15 0 Recycling endosome membrane NA PE1 2 +NX_Q96CT2 875 94228 6.73 0 Mitochondrion;Cytosol NA PE1 2 +NX_Q96CT7 223 25835 9.54 0 Midbody;Centrosome;Cell membrane;Cytosol NA PE1 19 +NX_Q96CU9 486 53812 7.66 1 Mitochondrion;Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency PE1 11 +NX_Q96CV9 577 65921 5.17 0 Cytosol;Cytoplasmic vesicle;Autophagosome;trans-Golgi network;Perinuclear region;Recycling endosome;Golgi apparatus Glaucoma, normal pressure;Glaucoma 1, open angle, E;Amyotrophic lateral sclerosis 12 PE1 10 +NX_Q96CW1 435 49655 9.57 0 Cell membrane;Coated pit;Cell membrane NA PE1 3 +NX_Q96CW5 907 103571 8.35 0 Centrosome NA PE1 13 +NX_Q96CW6 309 35028 4.52 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 16 +NX_Q96CW9 530 59799 6.13 0 Cell membrane NA PE1 9 +NX_Q96CX2 325 35701 5.51 0 Mitochondrion;Postsynaptic cell membrane;Presynaptic cell membrane NA PE1 13 +NX_Q96CX3 271 31179 9.39 0 Endoplasmic reticulum;Nucleus NA PE1 3 +NX_Q96CX6 371 40586 6.41 0 Cytosol;Nucleus NA PE1 3 +NX_Q96D03 193 21740 7.49 0 Cell membrane;Nucleoplasm;Cytoplasm;Cytoskeleton NA PE1 4 +NX_Q96D05 121 13238 11.58 1 Cytosol;Membrane;Nucleus;Centrosome NA PE1 10 +NX_Q96D09 838 93773 4.96 0 Cytoplasm;Cytosol;Nucleoplasm NA PE1 X +NX_Q96D15 328 37493 4.74 0 Endoplasmic reticulum;Cytoplasmic vesicle;Endoplasmic reticulum lumen NA PE1 19 +NX_Q96D21 266 30366 9.09 0 Cell membrane;Cell membrane;Cytosol NA PE1 22 +NX_Q96D31 301 32668 8.45 4 Cytosol;Cell membrane Immunodeficiency 9;Myopathy, tubular aggregate, 2 PE1 12 +NX_Q96D42 359 38720 6.44 1 Cytoplasmic vesicle;Membrane NA PE1 5 +NX_Q96D46 503 57603 6.76 0 Cytoplasm;Nucleolus;Nucleus;Nucleus NA PE1 3 +NX_Q96D53 544 60069 6.84 1 Mitochondrion;Mitochondrion membrane;Cytosol;Cell membrane Nephrotic syndrome 9 PE1 19 +NX_Q96D59 192 21617 7.59 1 Endoplasmic reticulum;Membrane NA PE1 9 +NX_Q96D70 268 30350 8.82 0 Cytosol;Nucleus;Nucleus NA PE1 19 +NX_Q96D71 796 86662 5.45 0 Cytoplasmic vesicle;Clathrin-coated pit;Cell membrane;Cytosol NA PE1 6 +NX_Q96D96 273 31683 6.33 4 Cell membrane;Membrane;Cell membrane NA PE1 12 +NX_Q96D98 161 16985 4.67 0 Nucleus NA PE1 19 +NX_Q96DA0 208 22739 6.74 0 Cytoplasmic vesicle;Secreted;Nucleoplasm NA PE1 16 +NX_Q96DA2 213 24622 7.69 0 Golgi apparatus;Cell membrane;Golgi apparatus;Cytoplasmic vesicle membrane Waisman syndrome;Mental retardation, X-linked 72 PE1 X +NX_Q96DA6 116 12499 10.1 1 Mitochondrion inner membrane 3-methylglutaconic aciduria 5 PE1 3 +NX_Q96DB2 347 39183 7.17 0 Cell membrane;Nucleus NA PE1 3 +NX_Q96DB5 314 35808 8.64 0 Cytoplasm;Centrosome;Cytoplasm;Spindle;Spindle pole NA PE1 8 +NX_Q96DB9 178 19472 5.51 1 Cell membrane;Membrane;Endoplasmic reticulum NA PE1 19 +NX_Q96DC7 493 54442 5.58 2 Mitochondrion;Membrane;Nucleoplasm NA PE1 5 +NX_Q96DC8 303 32634 8.9 0 Nucleolus;Mitochondrion;Mitochondrion;Nucleus NA PE1 10 +NX_Q96DC9 234 27213 5.81 0 Nucleoplasm NA PE1 14 +NX_Q96DD0 335 38793 5.99 0 M line NA PE1 1 +NX_Q96DD7 197 21522 8.21 1 Membrane NA PE1 1 +NX_Q96DE0 195 21273 6.38 0 Nucleus;Nucleolus;Nucleus;Nucleoplasm;Nucleolus;Cytoplasm NA PE1 3 +NX_Q96DE5 110 11667 4.91 0 Cytosol;Cytoplasm;Nucleus;Kinetochore NA PE1 10 +NX_Q96DE9 158 17780 6.43 0 NA NA PE2 X +NX_Q96DF8 476 52568 7.06 0 Nucleoplasm;Nucleus NA PE1 22 +NX_Q96DG6 245 28048 6.71 0 Cytosol NA PE1 5 +NX_Q96DH6 328 35197 8.62 0 Cytosol;Cytoplasm NA PE1 17 +NX_Q96DI7 357 39311 8.34 0 Nucleus speckle;Nucleus NA PE1 1 +NX_Q96DL1 559 64901 8.85 1 Membrane NA PE1 11 +NX_Q96DM1 585 67004 9.29 0 Nucleoplasm;Centrosome NA PE2 15 +NX_Q96DM3 657 74975 7.89 0 Nucleus NA PE1 18 +NX_Q96DN0 273 30480 4.57 0 Endoplasmic reticulum lumen NA PE1 12 +NX_Q96DN2 955 99915 6.06 0 Nucleus;Cytosol;Secreted;Cytoplasmic vesicle NA PE1 11 +NX_Q96DN5 1066 124189 8.84 0 Centrosome NA PE1 8 +NX_Q96DN6 1003 101201 9.72 0 Chromosome;Nucleus;Nucleus NA PE1 12 +NX_Q96DP5 389 43832 9.7 0 Cytosol;Nucleoplasm;Mitochondrion Combined oxidative phosphorylation deficiency 15;Leigh syndrome PE1 15 +NX_Q96DR4 205 23517 5.12 0 Cell membrane NA PE1 5 +NX_Q96DR5 249 27011 5.35 0 Secreted NA PE1 20 +NX_Q96DR7 871 97346 9.07 0 Cell membrane;Ruffle;Nucleoplasm;Cytosol NA PE1 3 +NX_Q96DR8 90 9039 4.41 0 Membrane;Secreted NA PE1 12 +NX_Q96DS6 147 15909 8.48 2 Membrane NA PE2 11 +NX_Q96DT0 336 37542 9.3 0 Nucleus NA PE1 11 +NX_Q96DT5 4516 520369 6.03 0 Cilium axoneme Ciliary dyskinesia, primary, 7 PE1 7 +NX_Q96DT6 458 52497 5.65 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 1 +NX_Q96DT7 871 94894 5.05 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q96DU3 332 37345 6.32 1 Cell membrane NA PE1 1 +NX_Q96DU7 683 75207 5.03 0 Nucleus speckle;Nucleus;Cytoplasm Kawasaki disease PE1 19 +NX_Q96DU9 382 43331 9.55 0 Mitochondrion matrix;Cytoplasm NA PE1 X +NX_Q96DV4 380 44597 7.19 0 Mitochondrion;Mitochondrion NA PE1 17 +NX_Q96DW6 304 33566 9.57 6 Mitochondrion inner membrane Anemia, sideroblastic, 2, pyridoxine-refractory PE1 3 +NX_Q96DX4 576 64180 5.35 0 Secreted Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type PE1 16 +NX_Q96DX5 294 31858 6.48 0 Nucleus;Cytosol;Mitochondrion NA PE1 X +NX_Q96DX7 344 38472 4.16 0 Cytoplasmic vesicle;Cell membrane Aniridia 3 PE1 11 +NX_Q96DX8 246 27863 8.56 1 Membrane;Nucleus NA PE1 3 +NX_Q96DY2 449 52359 9.26 0 Nucleus NA PE1 12 +NX_Q96DY7 904 102193 7.91 0 Nucleus NA PE1 8 +NX_Q96DZ1 483 54858 5.88 0 Endoplasmic reticulum lumen NA PE1 2 +NX_Q96DZ5 547 59560 7.93 0 Golgi apparatus;Golgi stack;Cytoplasm;Cell membrane NA PE1 19 +NX_Q96DZ7 209 22433 8.87 4 Membrane NA PE2 3 +NX_Q96DZ9 223 24653 6.13 4 Membrane NA PE1 14 +NX_Q96E09 287 30529 6.32 0 Nucleus;Nucleoplasm NA PE1 9 +NX_Q96E11 262 29277 9.8 0 Mitochondrion;Cytoskeleton;Cytoskeleton NA PE1 9 +NX_Q96E14 147 15865 7.76 0 Nucleus;Cytosol;Nucleus speckle NA PE1 16 +NX_Q96E16 107 12439 5.37 1 Membrane NA PE1 8 +NX_Q96E17 227 25952 5.09 0 Cell membrane;Cytosol NA PE1 5 +NX_Q96E22 293 33224 8.81 3 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cell membrane Congenital disorder of glycosylation 1AA PE1 6 +NX_Q96E29 417 47971 8.6 0 Mitochondrion;Mitochondrion;Nucleoplasm NA PE1 8 +NX_Q96E35 227 26433 6.4 0 Cell membrane;Cytoplasmic vesicle;Golgi apparatus;Cytoplasm NA PE1 9 +NX_Q96E39 390 42142 9.9 0 Nucleus NA PE1 1 +NX_Q96E40 222 25166 9.3 0 Cytoplasm;Acrosome;Mitochondrion NA PE1 9 +NX_Q96E52 524 60120 9.36 2 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion NA PE1 1 +NX_Q96E66 192 22206 9.38 0 Nucleolus;Cytoskeleton;Cytoplasm NA PE1 11 +NX_Q96E93 195 21831 5.27 1 Cytoplasmic vesicle;Cell membrane NA PE1 12 +NX_Q96EA4 605 70172 5.41 0 Kinetochore;Centrosome;Nucleus;Cytosol;Spindle pole NA PE1 5 +NX_Q96EB1 424 46588 8.75 0 Nucleus;Cytoplasm;Cytoplasm;Nucleus;Nucleoplasm Aniridia 2 PE1 11 +NX_Q96EB6 747 81681 4.55 0 Cytosol;Nucleus;Cytoplasm;PML body;Nucleus;Mitochondrion;Cytoplasm;Mitochondrion NA PE1 10 +NX_Q96EC8 236 26256 5.46 5 Endoplasmic reticulum;Golgi apparatus membrane;Cytoplasmic vesicle NA PE1 X +NX_Q96ED9 719 83207 5.36 0 Centrosome;Cytoplasm;Cytoskeleton;Cytoplasmic vesicle;Cytosol NA PE1 19 +NX_Q96EE3 360 39649 8.34 0 Nuclear pore complex;Kinetochore;Lysosome membrane NA PE1 18 +NX_Q96EE4 140 15668 9.87 0 Secreted;Nucleoplasm NA PE1 7 +NX_Q96EF0 704 78919 6.2 0 Nucleus envelope NA PE1 X +NX_Q96EF6 278 31479 8.46 0 NA NA PE1 19 +NX_Q96EF9 292 33285 6.61 0 NA NA PE2 8 +NX_Q96EG1 525 57061 6.16 0 Lysosome NA PE1 17 +NX_Q96EG3 531 58078 9.52 0 Nucleolus;Nucleus NA PE1 19 +NX_Q96EH3 234 26170 5.32 0 Mitochondrion matrix;Mitochondrion NA PE1 7 +NX_Q96EH5 51 6293 12.41 0 NA NA PE1 3 +NX_Q96EH8 262 28789 8.36 0 NA NA PE2 2 +NX_Q96EI5 215 24647 5.16 0 Nucleus NA PE1 X +NX_Q96EK2 531 57455 9.43 0 Nucleus;Nucleolus NA PE2 22 +NX_Q96EK4 314 34455 9.18 0 Nucleoplasm;Nucleus;Cytoplasm;Cytoskeleton NA PE1 16 +NX_Q96EK5 621 71814 5.34 0 Cytoskeleton Goldberg-Shprintzen syndrome PE1 10 +NX_Q96EK6 184 20749 8.17 0 Endosome membrane;Golgi apparatus membrane NA PE1 14 +NX_Q96EK7 910 103783 5.49 0 Nucleus;Cytosol;Nucleoplasm NA PE1 6 +NX_Q96EK9 354 38616 6.47 0 NA NA PE1 1 +NX_Q96EL1 285 31328 5.28 0 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Nucleus NA PE1 3 +NX_Q96EL2 167 19015 9.48 0 Mitochondrion NA PE1 7 +NX_Q96EL3 112 12107 9.05 0 Mitochondrion NA PE1 2 +NX_Q96EM0 354 38138 6.2 0 Cytoplasmic vesicle NA PE1 14 +NX_Q96EN8 888 98120 6.23 0 Mitochondrion;Cytosol Xanthinuria 2 PE1 18 +NX_Q96EN9 201 22599 6.47 0 Cytoplasmic vesicle NA PE1 19 +NX_Q96EP0 1072 119652 6.14 0 Cytosol;Cytoplasm NA PE1 14 +NX_Q96EP1 664 73386 5.71 0 PML body;Cytoskeleton;Nucleus NA PE1 12 +NX_Q96EP5 407 43383 8.73 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA PE1 19 +NX_Q96EP9 437 46504 5.09 7 Cell membrane NA PE1 4 +NX_Q96EQ0 304 33429 4.8 0 Nucleus NA PE1 5 +NX_Q96EQ8 232 26454 6.74 0 Golgi apparatus membrane;Nucleolus;Golgi apparatus;Cytosol Tenorio syndrome PE1 18 +NX_Q96ER3 474 53558 4.38 0 Nucleus;Nucleoplasm NA PE1 11 +NX_Q96ER9 411 45811 8.3 2 Nucleoplasm;Membrane;Mitochondrion;Centrosome NA PE1 3 +NX_Q96ES6 412 42696 9.34 12 Membrane;Cytoplasmic vesicle NA PE1 8 +NX_Q96ES7 293 33238 8.2 0 Nucleus;Nucleus;Nucleolus NA PE1 16 +NX_Q96ET8 276 31105 9.47 2 Cell membrane;Membrane NA PE1 17 +NX_Q96EU6 259 29823 10.17 0 Nucleolus;Nucleus;Nucleolus NA PE1 6 +NX_Q96EU7 318 36382 6.36 1 Cytosol;Membrane Tn polyagglutination syndrome PE1 X +NX_Q96EV2 1170 129986 6.45 0 Nucleoplasm NA PE1 7 +NX_Q96EV8 351 39493 4.59 0 Midbody;Endoplasmic reticulum;Cytoplasmic vesicle membrane;Endosome membrane;Melanosome membrane;Postsynaptic density;Postsynaptic cell membrane;Synaptic vesicle membrane;Cytoplasm;Nucleus;Cytoskeleton Hermansky-Pudlak syndrome 7 PE1 6 +NX_Q96EW2 488 55167 5.38 0 Cytoplasm;Mitochondrion NA PE1 3 +NX_Q96EX1 92 10799 8.01 1 Membrane;Mitochondrion NA PE1 1 +NX_Q96EX2 444 48965 8.08 4 Nucleoplasm;Cytosol;Membrane NA PE1 12 +NX_Q96EX3 536 57801 6.16 0 Cytosol;Cilium basal body;Cilium axoneme;Cytoplasm Short-rib thoracic dysplasia 11 with or without polydactyly PE1 9 +NX_Q96EY1 480 52489 9.37 0 Mitochondrion;Mitochondrion matrix;Cytosol;Postsynaptic cell membrane NA PE1 16 +NX_Q96EY4 203 23864 9.33 0 Nucleolus NA PE1 4 +NX_Q96EY5 273 28783 9.1 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Nucleus;Endosome;Centrosome;Late endosome membrane NA PE1 19 +NX_Q96EY7 689 78550 6 0 Mitochondrion;Mitochondrion NA PE1 2 +NX_Q96EY8 250 27388 8.86 0 Mitochondrion;Mitochondrion Methylmalonic aciduria type cblB PE1 12 +NX_Q96EY9 351 38071 8.06 0 Nucleus Mental retardation, autosomal recessive 36 PE1 19 +NX_Q96EZ4 313 33556 9.21 0 Cytoplasmic vesicle;Nucleus;Cytoplasm NA PE2 11 +NX_Q96EZ8 462 51803 9.41 0 Nucleus;Nucleolus;Cytoplasm;Nucleoplasm NA PE1 12 +NX_Q96F05 449 46101 5.59 1 Cytoplasmic vesicle;Cell membrane;trans-Golgi network membrane;Nucleoplasm NA PE1 11 +NX_Q96F07 1278 148399 7.03 0 Cytoplasm;Endoplasmic reticulum;Cell membrane;Cytoplasm;Nucleus;Perinuclear region;Cytosol;Synaptosome NA PE1 5 +NX_Q96F10 170 19155 5.77 0 Cytoplasm NA PE1 17 +NX_Q96F15 307 34846 7.6 1 Mitochondrion outer membrane;Lysosome NA PE1 7 +NX_Q96F24 287 32378 5.61 0 Cytoplasm;Nucleus;Cytosol;Nucleoplasm;Cytoplasmic vesicle;Cytoplasm;Autophagosome NA PE1 10 +NX_Q96F25 216 24151 9.13 1 Endoplasmic reticulum membrane;Nucleus membrane;Nucleolus;Nucleus Myasthenic syndrome, congenital, 15 PE1 1 +NX_Q96F44 468 52774 5.5 0 Nucleus;Cytosol;Cytoplasm;Nucleus NA PE1 1 +NX_Q96F45 646 62555 8.94 0 Cell membrane;Nucleus;Cytosol;Nucleoplasm NA PE1 10 +NX_Q96F46 866 96122 5.06 1 Cytosol;Cell membrane;Nucleoplasm;Secreted Immunodeficiency 51 PE1 22 +NX_Q96F63 343 38947 4.52 0 Cytosol;Cell membrane;Nucleoplasm NA PE1 19 +NX_Q96F81 1524 170934 6.44 12 Membrane;Nucleus NA PE1 1 +NX_Q96F83 325 35690 5.96 0 Nucleus;Nucleoplasm;Cytosol NA PE2 14 +NX_Q96F85 164 18648 7.72 0 Cytosol NA PE1 2 +NX_Q96F86 508 56078 6.65 0 Cytosol;P-body Mental retardation, autosomal recessive 50 PE1 15 +NX_Q96FA3 418 46286 8.33 0 NA NA PE1 2 +NX_Q96FA7 236 26352 7.05 0 Cytoplasmic vesicle;Nucleus membrane NA PE2 7 +NX_Q96FB5 475 52981 8.22 1 Nucleolus;Cytosol;Membrane NA PE1 1 +NX_Q96FC7 376 42486 5.97 0 Mitochondrion;Cytoplasm;Cytosol NA PE1 10 +NX_Q96FC9 970 108313 7.07 0 Nucleolus;Nucleus;Centrosome;Midbody;Spindle pole;Chromosome Warsaw breakage syndrome PE1 12 +NX_Q96FE5 620 69876 8.86 1 Cell membrane;Cell membrane NA PE1 15 +NX_Q96FE7 263 28248 4.92 1 Cell membrane NA PE1 22 +NX_Q96FF7 219 24028 10.92 0 NA NA PE1 19 +NX_Q96FF9 252 27601 9.65 0 Chromosome;Nucleus;Cytoplasm;Nucleoplasm NA PE1 11 +NX_Q96FG2 381 43046 8.11 0 Nucleoplasm;Stereocilium;Cytoskeleton;Mitochondrion;Kinocilium Deafness, autosomal recessive, 88 PE1 2 +NX_Q96FH0 119 13403 5.54 0 Cytoplasmic vesicle;Nucleoplasm;Lysosome membrane NA PE1 19 +NX_Q96FI4 390 43684 9.94 0 Nucleoplasm;Centrosome;Nucleus;Chromosome NA PE1 15 +NX_Q96FJ0 436 49783 6.79 0 Cell membrane NA PE1 10 +NX_Q96FJ2 89 10350 6.81 0 Cytoskeleton NA PE1 17 +NX_Q96FK6 387 43215 5.72 0 Cytosol;Cytoskeleton NA PE1 14 +NX_Q96FL8 570 61922 7.53 13 Cell membrane NA PE1 17 +NX_Q96FL9 552 64321 7.84 1 Golgi apparatus membrane;Golgi apparatus;Nucleus NA PE1 2 +NX_Q96FM1 320 36475 6.84 7 Cytosol;Cell membrane;Golgi apparatus membrane;Endoplasmic reticulum membrane Hyperphosphatasia with mental retardation syndrome 4 PE1 17 +NX_Q96FN4 548 61190 5.71 0 Cytosol;Mitochondrion;Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA PE1 16 +NX_Q96FN5 646 70660 9.19 0 Cytoskeleton;Mitochondrion NA PE1 9 +NX_Q96FN9 168 18660 7.71 0 Cytoplasmic vesicle;Cytoplasm NA PE1 14 +NX_Q96FQ6 103 11801 6.28 0 Cytoplasm;Cytosol;Nucleolus;Cell membrane NA PE1 1 +NX_Q96FQ7 95 10201 7.81 0 NA NA PE5 18 +NX_Q96FS4 1042 112149 6.16 0 Cell membrane;Nucleolus;Nucleus;Golgi apparatus;Perinuclear region;Endomembrane system;Nucleus NA PE1 11 +NX_Q96FT7 647 70105 8.04 2 Membrane;Golgi apparatus NA PE1 2 +NX_Q96FT9 208 23529 4.62 0 Microtubule organizing center;Cytoskeleton;Cytoskeleton;Cilium Cranioectodermal dysplasia 3 PE1 14 +NX_Q96FV0 321 35340 4.86 0 Cytosol NA PE1 17 +NX_Q96FV2 425 46597 5.44 0 Nucleoplasm;Golgi apparatus NA PE1 17 +NX_Q96FV3 270 30264 4.96 4 Nucleoplasm;Membrane NA PE2 5 +NX_Q96FV9 657 75666 4.92 0 Nucleus speckle;Cytoplasm;Nucleus matrix;Nucleoplasm;Nucleus speckle NA PE1 18 +NX_Q96FW1 271 31284 4.85 0 Nucleus;Cytosol;Cytoplasm NA PE1 11 +NX_Q96FX2 82 9240 3.94 0 Cytoplasm;Nucleus NA PE1 3 +NX_Q96FX7 289 31382 6.89 0 Nucleus NA PE1 14 +NX_Q96FX8 193 21386 6.68 4 Cell membrane;Desmosome NA PE1 6 +NX_Q96FZ2 354 40575 8.43 0 Nucleus NA PE1 3 +NX_Q96FZ5 175 18834 8.23 4 Cell membrane;Membrane NA PE1 3 +NX_Q96FZ7 201 23485 5.28 0 Late endosome membrane;Endosome membrane;Membrane;Endomembrane system NA PE1 17 +NX_Q96G01 975 110750 5.6 0 Cytoplasmic vesicle;Golgi apparatus NA PE1 12 +NX_Q96G03 612 68283 6.28 0 Cytoskeleton;Cytoplasm NA PE1 4 +NX_Q96G04 330 36915 5.7 0 Cytoplasm;Cytoplasm NA PE1 16 +NX_Q96G21 291 33757 9.49 0 Nucleolus;Nucleolus NA PE1 2 +NX_Q96G23 380 44876 9.03 6 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus membrane;Nucleus membrane NA PE1 1 +NX_Q96G25 268 29080 6.92 0 Nucleus;Nucleoplasm;Golgi apparatus NA PE1 1 +NX_Q96G27 269 29140 5.61 0 Cytosol NA PE1 2 +NX_Q96G28 342 39447 4.93 0 Nucleus;Cytoplasm;Flagellum NA PE1 2 +NX_Q96G30 205 23548 4.92 1 Cell membrane;Endoplasmic reticulum membrane Obesity PE1 6 +NX_Q96G42 594 63314 9.25 0 NA NA PE1 22 +NX_Q96G46 650 72594 8.4 0 Nucleoplasm;Cytosol NA PE1 19 +NX_Q96G61 164 18559 5.73 0 Nucleus;Cytoplasm;Cytoplasm NA PE1 X +NX_Q96G74 571 60626 6.1 0 Nucleus;Nucleolus;Cytosol NA PE1 X +NX_Q96G75 393 44414 6.15 0 Nucleoplasm NA PE1 5 +NX_Q96G79 324 34593 9.77 9 Nucleoplasm;Golgi apparatus membrane NA PE2 5 +NX_Q96G91 374 40345 9.35 7 Cell membrane NA PE1 19 +NX_Q96G97 398 44392 5.07 2 Endoplasmic reticulum membrane Neuronopathy, distal hereditary motor, 5A;Spastic paraplegia 17, autosomal dominant;Encephalopathy, progressive, with or without lipodystrophy;Congenital generalized lipodystrophy 2 PE1 11 +NX_Q96GA3 475 54855 4.8 0 Cytosol;Nucleoplasm NA PE1 6 +NX_Q96GA7 329 34674 6.41 0 Cytosol NA PE1 12 +NX_Q96GC5 212 23935 9.04 0 Mitochondrion NA PE1 11 +NX_Q96GC6 653 74177 6.3 0 Centrosome;Nucleolus;Cytoplasm;Nucleus NA PE1 19 +NX_Q96GC9 406 46238 6.47 7 Cytoplasm;Golgi apparatus;Nucleolus;Endoplasmic reticulum;Endoplasmic reticulum;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cell membrane;Vacuole membrane;Endoplasmic reticulum NA PE1 17 +NX_Q96GD0 296 31698 6.12 0 Cytosol;Cytoskeleton;Ruffle membrane;Lamellipodium membrane;Cell membrane NA PE1 22 +NX_Q96GD3 660 73354 9.37 0 Nucleus;Nucleus;Nucleoplasm NA PE1 1 +NX_Q96GD4 344 39311 9.36 0 Nucleoplasm;Spindle;Midbody;Centromere;Midbody;Chromosome;Nucleus NA PE1 17 +NX_Q96GE4 821 95297 8.76 0 Centrosome;Nucleoplasm;Cytosol;Centrosome;Spindle pole NA PE1 17 +NX_Q96GE5 643 74288 9.29 0 Nucleus NA PE1 19 +NX_Q96GE6 196 21883 7.02 0 Nucleoplasm;Cytosol;Golgi apparatus NA PE1 15 +NX_Q96GE9 116 12257 9.8 2 Mitochondrion inner membrane NA PE1 9 +NX_Q96GF1 192 20459 6.09 2 Mitochondrion outer membrane;Endoplasmic reticulum membrane NA PE1 22 +NX_Q96GG9 259 30124 5.18 0 Nucleus;Nucleus;Cytosol NA PE1 3 +NX_Q96GI7 184 19569 5.64 0 Nucleoplasm;Golgi apparatus;Cytoplasmic vesicle NA PE1 1 +NX_Q96GJ1 504 56476 9.04 0 Nucleus;Nucleoplasm NA PE1 X +NX_Q96GK7 314 34596 8.48 0 NA NA PE1 2 +NX_Q96GL9 167 17641 5.56 1 Membrane NA PE2 1 +NX_Q96GM1 343 36880 9.64 6 Nucleoplasm;Membrane NA PE1 19 +NX_Q96GM5 515 58233 9.31 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 12 +NX_Q96GM8 510 56548 6.76 0 Nucleus;Nucleolus;Nucleus speckle;Nucleoplasm Pontocerebellar hypoplasia 7 PE1 1 +NX_Q96GN5 454 52206 5.59 0 Cytosol;Nucleus;Nucleolus;Cytoplasm;Nucleus NA PE1 7 +NX_Q96GP6 870 92479 8.89 1 Nucleus;Cytosol;Nucleoplasm;Membrane Van den Ende-Gupta syndrome PE1 22 +NX_Q96GQ5 468 51018 6.47 1 Nucleoplasm;Cytosol;Cytoplasmic vesicle;Nucleolus;Golgi apparatus;Membrane NA PE1 16 +NX_Q96GQ7 796 89835 9.33 0 Nucleolus;Nucleolus;Chromosome NA PE1 20 +NX_Q96GR2 724 81290 5.73 0 Cytoplasmic vesicle;Cytoplasm;Cytoplasmic vesicle;Microsome;Endoplasmic reticulum NA PE1 15 +NX_Q96GR4 267 30813 6.75 4 Nucleoplasm;Membrane NA PE1 9 +NX_Q96GS4 357 37226 5.56 0 Lysosome membrane;Cytosol;Centrosome NA PE1 17 +NX_Q96GS6 310 33990 6.39 0 Cytoplasmic vesicle;Secreted NA PE1 19 +NX_Q96GT9 111 12354 5.12 0 NA NA PE1 X +NX_Q96GU1 130 14046 4.27 0 Mitochondrion NA PE1 X +NX_Q96GV9 206 23083 9.51 0 Cilium;Mitochondrion;Nucleus;Cytoplasm NA PE1 5 +NX_Q96GW7 911 99118 4.57 0 Membrane;Extracellular matrix NA PE1 1 +NX_Q96GW9 593 66591 8.38 0 Cytosol;Mitochondrion matrix;Cytoskeleton Combined oxidative phosphorylation deficiency 25;Spastic ataxia 3, autosomal recessive PE1 2 +NX_Q96GX1 697 76871 5.09 1 Golgi apparatus;Cytoplasmic vesicle;Membrane;Cilium basal body Meckel syndrome 8;Joubert syndrome 24 PE1 12 +NX_Q96GX2 97 10771 4.27 0 Nucleoplasm;Cytoplasm NA PE1 12 +NX_Q96GX5 879 97319 5.67 0 Centrosome;Nucleus;Cleavage furrow;Nucleoplasm NA PE1 10 +NX_Q96GX8 76 8118 4.13 0 Cell membrane;Centrosome NA PE1 16 +NX_Q96GX9 242 27125 6.7 0 Cytoplasm;Nucleoplasm;Cytosol;Cytoplasm NA PE1 11 +NX_Q96GY0 325 35092 9.86 0 Cytoskeleton;Cytosol NA PE1 8 +NX_Q96GY3 246 28383 8.93 0 Nucleoplasm NA PE1 19 +NX_Q96GZ6 507 54767 7.97 10 Endoplasmic reticulum;Cell membrane;Cell membrane NA PE1 3 +NX_Q96H12 275 32363 8.58 0 Cytoplasm;Nucleoplasm NA PE1 9 +NX_Q96H15 378 41578 5.75 1 Membrane;Cell membrane;Cytosol NA PE1 5 +NX_Q96H20 258 28864 6.2 0 Nucleoplasm;Cytoplasm;Endosome membrane;Nucleus;Late endosome membrane;Cytosol NA PE1 17 +NX_Q96H22 339 39555 9.18 0 Nucleus;Nucleus;Kinetochore NA PE1 16 +NX_Q96H35 190 21649 9.46 0 Midbody;Nucleus;Nucleolus NA PE1 9 +NX_Q96H40 463 53631 9.27 0 Nucleus NA PE1 19 +NX_Q96H55 970 109135 7.87 0 Cytosol;Cytoskeleton;Mitochondrion outer membrane NA PE1 17 +NX_Q96H72 371 39011 5.21 8 Cytosol;Golgi apparatus membrane Ehlers-Danlos syndrome-like spondylocheirodysplasia PE1 11 +NX_Q96H78 314 35392 9.64 6 Mitochondrion;Mitochondrion inner membrane;Nucleus NA PE1 1 +NX_Q96H79 300 32962 8.5 0 Cytosol NA PE1 7 +NX_Q96H86 408 44943 9.19 0 Cytosol;Nucleus NA PE1 16 +NX_Q96H96 371 40489 9.27 9 Mitochondrion inner membrane;Cytosol Coenzyme Q10 deficiency, primary, 1;Multiple system atrophy 1 PE1 4 +NX_Q96HA1 1249 127720 10.58 1 Nuclear pore complex;Nucleus membrane;Endoplasmic reticulum membrane NA PE1 7 +NX_Q96HA4 380 40283 10.07 1 Cytosol;Membrane;Nucleolus NA PE1 1 +NX_Q96HA7 1378 150929 5.99 0 Nucleus;Nucleoplasm;Cytoplasm;Nucleus NA PE1 8 +NX_Q96HA8 205 23680 5.46 0 Nucleoplasm;Nucleus;Cytosol;Cytoplasmic vesicle NA PE1 8 +NX_Q96HA9 241 26636 9.35 2 Peroxisome membrane NA PE1 19 +NX_Q96HB5 630 67567 9.51 0 Cytoplasm;Cell projection;Growth cone;Mitochondrion;Endosome NA PE1 X +NX_Q96HC4 596 63945 8.55 0 Nucleoplasm;Focal adhesion;Synaptosome;Cell membrane;Postsynaptic density;Cytoplasm NA PE1 4 +NX_Q96HD1 420 45440 4.81 2 Golgi apparatus;Endoplasmic reticulum;Membrane;Nucleolus;Cytosol Atrioventricular septal defect 2 PE1 3 +NX_Q96HD9 319 35241 5.57 0 Apical cell membrane;Cytoplasm NA PE1 11 +NX_Q96HE7 468 54393 5.48 0 Endoplasmic reticulum membrane NA PE1 14 +NX_Q96HE8 168 18160 9.83 4 Membrane;Golgi apparatus;Cilium NA PE2 11 +NX_Q96HE9 360 40085 10.13 0 Endoplasmic reticulum;Cytoplasm;Nucleus NA PE1 17 +NX_Q96HF1 295 33490 7.41 0 Secreted NA PE1 4 +NX_Q96HG1 83 9236 10.36 1 Membrane NA PE1 X +NX_Q96HH4 297 33611 4.76 2 Focal adhesion;Membrane NA PE2 2 +NX_Q96HH6 336 36392 8.73 6 Membrane NA PE1 12 +NX_Q96HH9 432 47869 8 0 Golgi apparatus;Cytosol;Nucleoplasm NA PE1 5 +NX_Q96HI0 755 86693 9.3 0 Nucleolus NA PE1 3 +NX_Q96HJ3 373 43225 7.06 0 Nucleus membrane;Nucleolus NA PE1 11 +NX_Q96HJ5 214 22933 5.18 4 Endomembrane system;Perinuclear region NA PE1 11 +NX_Q96HJ9 113 12749 10.08 0 Mitochondrion NA PE1 7 +NX_Q96HL8 342 37148 9.18 0 Nucleus NA PE1 2 +NX_Q96HM7 432 49727 9.58 0 Golgi apparatus;Cytoplasmic vesicle NA PE1 12 +NX_Q96HN2 611 66721 7.13 0 Cytosol;Cytoplasm;Microsome;Nucleoplasm NA PE1 7 +NX_Q96HP0 2047 229558 6.28 0 Cytosol;Cytoplasm;Perinuclear region Adams-Oliver syndrome 2 PE1 19 +NX_Q96HP4 312 34854 8.68 0 Nucleus NA PE1 3 +NX_Q96HP8 235 26116 8.83 4 Mitochondrion;Membrane NA PE1 7 +NX_Q96HQ0 510 58564 9.22 0 Nucleus NA PE1 19 +NX_Q96HQ2 116 13196 4.87 0 NA NA PE1 5 +NX_Q96HR3 178 20277 8.45 0 Nucleus;Nucleoplasm NA PE1 8 +NX_Q96HR8 494 53717 4.76 0 Cytosol;Nucleus;Nucleus;Cytoplasm NA PE1 4 +NX_Q96HR9 211 23418 8.74 2 Endoplasmic reticulum membrane;Endoplasmic reticulum Retinitis pigmentosa 77 PE1 19 +NX_Q96HS1 289 32004 8.88 1 Mitochondrion;Mitochondrion outer membrane NA PE1 12 +NX_Q96HT8 127 14808 4.46 0 NA NA PE1 4 +NX_Q96HU1 749 85354 5.66 0 Golgi apparatus;Cytoplasm NA PE1 22 +NX_Q96HU8 199 22485 8.98 0 Cell membrane NA PE1 9 +NX_Q96HV5 264 29665 9.23 5 Nucleoplasm;Golgi apparatus;Membrane;Cytosol NA PE1 3 +NX_Q96HW7 963 108171 6 0 Nucleolus;Nucleus NA PE1 11 +NX_Q96HY6 314 35611 5.12 0 Endoplasmic reticulum;Nucleolus;Endoplasmic reticulum NA PE1 20 +NX_Q96HY7 919 103077 6.46 0 Mitochondrion;Mitochondrion 2-aminoadipic 2-oxoadipic aciduria;Charcot-Marie-Tooth disease 2Q PE1 10 +NX_Q96HZ4 224 24129 5.18 0 Nucleolus;Nucleus;Nucleus;Nucleus;Cytosol NA PE2 2 +NX_Q96HZ7 61 6513 12.37 0 NA NA PE5 21 +NX_Q96I13 439 47331 6.54 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q96I15 445 48149 6.63 0 Golgi apparatus;Cytosol NA PE1 2 +NX_Q96I23 114 12655 9.45 0 Nucleoplasm;Mitochondrion NA PE1 4 +NX_Q96I24 572 61640 8.6 0 Cytosol;Nucleoplasm;Nucleus NA PE1 9 +NX_Q96I25 401 44962 5.76 0 Nucleoplasm;Nucleus NA PE1 10 +NX_Q96I27 306 34746 9.21 0 Mitochondrion;Nucleus;Nucleus NA PE1 19 +NX_Q96I34 528 57811 5.68 0 Cell membrane;Cell membrane NA PE1 8 +NX_Q96I36 57 6600 9.58 1 Mitochondrion;Mitochondrion membrane NA PE1 12 +NX_Q96I45 108 11875 8.69 2 Mitochondrion;Membrane;Cell junction NA PE1 9 +NX_Q96I51 464 49997 8.74 0 Mitochondrion;Cytosol;Nucleus NA PE1 7 +NX_Q96I59 477 54090 6.79 0 Mitochondrion;Mitochondrion;Mitochondrion matrix;Nucleoplasm;Cytosol Leigh syndrome;Combined oxidative phosphorylation deficiency 24 PE1 11 +NX_Q96I76 525 59338 4.93 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 1 +NX_Q96I82 304 32945 4.67 0 Extracellular matrix NA PE1 10 +NX_Q96I85 54 5742 4.96 0 Secreted NA PE3 14 +NX_Q96I99 432 46511 6.15 0 Cell membrane;Mitochondrion;Mitochondrion NA PE1 3 +NX_Q96IC2 774 86886 8.64 0 Nucleus;Endoplasmic reticulum;Nucleolus;Nucleus membrane NA PE1 16 +NX_Q96ID5 467 51835 6.48 0 Secreted NA PE1 1 +NX_Q96IF1 538 56934 6.86 0 Cytoskeleton;Cell membrane;Cell junction;P-body;Centrosome;Nucleus;Golgi apparatus;Nucleus NA PE1 14 +NX_Q96IG2 436 48423 7.65 0 Cytoskeleton;Cytoplasm NA PE1 17 +NX_Q96II8 777 86083 6.25 0 Cytosol;Secreted NA PE1 3 +NX_Q96IJ6 420 46291 6.73 0 Cytoplasm;Nucleoplasm Alacrima, achalasia, and mental retardation syndrome PE1 2 +NX_Q96IK0 257 28795 9.62 8 Cell membrane;Nucleoplasm;Membrane NA PE1 17 +NX_Q96IK1 185 19196 5.89 0 Centrosome;Kinetochore NA PE1 5 +NX_Q96IK5 515 58685 7.42 0 Nucleus matrix NA PE1 2 +NX_Q96IL0 206 24153 9.99 0 Mitochondrion NA PE1 14 +NX_Q96IM9 177 20586 5.46 0 NA NA PE1 10 +NX_Q96IP4 442 49666 5.03 0 NA NA PE1 6 +NX_Q96IQ7 327 34348 7.5 1 Nucleoplasm;Membrane NA PE1 11 +NX_Q96IQ9 312 32782 8.02 0 Cytosol;Nucleus;Nucleus NA PE1 19 +NX_Q96IR2 970 113133 9.47 0 Nucleus NA PE1 19 +NX_Q96IR3 41 4679 5.05 0 NA NA PE5 22 +NX_Q96IR7 371 39386 6.55 0 Mitochondrion NA PE1 1 +NX_Q96IS3 184 20086 9.45 0 Nucleus Cone-rod dystrophy 11;Macular degeneration, age-related, 6 PE1 19 +NX_Q96IT1 587 66908 5.48 0 Golgi apparatus;Nucleus NA PE1 1 +NX_Q96IT6 56 6106 10.42 0 NA NA PE5 14 +NX_Q96IU2 234 25132 8.65 0 Nucleoplasm;Cell membrane;Cytoplasm;Membrane NA PE1 5 +NX_Q96IU4 210 22346 5.94 0 Cytosol;Nucleus;Nucleus;Cytoplasm;Nucleolus NA PE1 3 +NX_Q96IV0 654 74390 6.47 0 Cytoplasm Congenital disorder of deglycosylation PE1 3 +NX_Q96IV6 333 39002 9.01 5 Membrane NA PE2 5 +NX_Q96IW2 340 38264 4.88 0 Cytosol;Microtubule organizing center NA PE1 19 +NX_Q96IW7 307 34948 8.57 4 Endoplasmic reticulum membrane NA PE1 3 +NX_Q96IX5 58 6458 9.78 1 Mitochondrion membrane;Mitochondrion NA PE1 10 +NX_Q96IX9 119 14172 9.1 0 NA NA PE5 1 +NX_Q96IY1 281 32162 6.35 0 Nucleus;Kinetochore;Nucleoplasm;Cytosol;Nucleus speckle NA PE1 1 +NX_Q96IY4 423 48424 7.61 0 Secreted NA PE1 13 +NX_Q96IZ0 340 36568 5.35 0 Cytoplasm;Cytoplasm;Cell membrane;Cytoskeleton;Nucleus NA PE1 12 +NX_Q96IZ2 230 26842 9.74 6 Nucleolus;Cell membrane NA PE1 6 +NX_Q96IZ5 413 47100 8.85 0 Cytoplasm;Nucleus speckle;Cytosol NA PE1 X +NX_Q96IZ6 378 43537 5.69 0 NA NA PE1 17 +NX_Q96IZ7 334 38677 11.08 0 Nucleus;Nucleus speckle;Cytoplasm;Nucleus speckle NA PE1 3 +NX_Q96J01 351 38772 5.7 0 Nucleus speckle;Nucleoplasm;Nucleus NA PE1 5 +NX_Q96J02 903 102803 5.94 0 Nucleoplasm;Cell membrane;Early endosome membrane;Endosome membrane;Nucleus;Cytoplasm Autoimmune disease, multisystem, with facial dysmorphism PE1 20 +NX_Q96J42 360 39885 4.77 1 Golgi apparatus;Membrane NA PE1 5 +NX_Q96J65 1359 152297 8.64 10 Membrane NA PE1 16 +NX_Q96J66 1382 154301 8.39 10 Cytoplasmic vesicle membrane;Cell membrane;Vacuole membrane NA PE1 16 +NX_Q96J77 140 15503 9.96 0 NA NA PE1 9 +NX_Q96J84 757 83536 5.49 1 Cell membrane NA PE1 1 +NX_Q96J86 154 16626 8.28 1 Nucleoplasm;Membrane NA PE2 21 +NX_Q96J87 481 50477 8.87 0 Cytosol;Cytoplasm;Nucleus NA PE1 15 +NX_Q96J88 318 36793 9.9 0 Cytosol NA PE1 13 +NX_Q96J92 1243 134739 5.36 0 Tight junction Pseudohypoaldosteronism 2B PE1 17 +NX_Q96J94 861 98603 9.5 0 Cytoplasm NA PE1 12 +NX_Q96JA1 1093 119113 6.66 1 Cytosol;Cell membrane NA PE1 3 +NX_Q96JA3 519 58261 5.03 0 Membrane;trans-Golgi network membrane NA PE1 7 +NX_Q96JA4 679 76580 5.39 4 Membrane NA PE2 11 +NX_Q96JB1 4490 514664 5.95 0 Cilium axoneme NA PE1 6 +NX_Q96JB2 828 94096 5.39 0 Golgi stack membrane NA PE1 13 +NX_Q96JB3 615 66156 5.95 0 Nucleus;Nucleus NA PE1 22 +NX_Q96JB5 506 56921 4.68 0 Cytosol;Nucleus;Cytoplasm;Centrosome NA PE1 17 +NX_Q96JB6 756 84483 7.32 0 Cytoplasmic vesicle;Extracellular space NA PE1 10 +NX_Q96JB8 637 72779 5.4 0 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Cytoplasm NA PE1 2 +NX_Q96JC1 886 101809 6.53 0 Cytoplasm;Cytoplasm;Lysosome membrane;Late endosome membrane;Late endosome;Lysosome NA PE1 15 +NX_Q96JC4 524 60598 9.21 0 Nucleus NA PE2 7 +NX_Q96JC9 268 29042 5.24 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus speckle;Cajal body;Nucleus NA PE1 3 +NX_Q96JD6 320 36589 7.19 0 Nucleoplasm;Cytoplasm;Golgi apparatus NA PE1 10 +NX_Q96JE7 1060 116604 5.71 0 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cytoskeleton;Endoplasmic reticulum;Cell membrane NA PE1 1 +NX_Q96JE9 813 86505 9.2 0 Cell membrane;Cytoskeleton;Golgi apparatus NA PE1 11 +NX_Q96JF0 529 60158 9.77 1 Golgi stack membrane;Nucleolus;Nucleus NA PE1 2 +NX_Q96JF6 807 93907 9.01 0 Nucleus;Nucleus NA PE1 17 +NX_Q96JG6 964 111174 5.85 0 Cell membrane;Cytosol;Recycling endosome NA PE1 7 +NX_Q96JG8 741 81378 6.34 0 NA NA PE1 X +NX_Q96JG9 3925 410202 7.88 0 Cytoplasmic vesicle;Nucleus Brittle cornea syndrome 1 PE1 16 +NX_Q96JH7 1222 134321 6.77 0 Cytoplasm;Endoplasmic reticulum;Golgi stack;Cell membrane NA PE1 8 +NX_Q96JH8 1075 117455 6.67 0 Nucleus;Nucleus membrane NA PE1 7 +NX_Q96JI7 2443 278868 5.63 0 Cytosol;Cytosol;Nucleolus;Nucleus;Axon;Dendrite;Cell membrane Amyotrophic lateral sclerosis 5, juvenile;Spastic paraplegia 11, autosomal recessive;Charcot-Marie-Tooth disease 2X PE1 15 +NX_Q96JJ3 720 82615 5.62 0 Cytosol;Cytoplasm;Cytosol;Membrane Vascular malformation, primary intraosseous PE1 20 +NX_Q96JJ6 628 65861 6.39 1 Nucleoplasm;Golgi apparatus;Endoplasmic reticulum membrane;Cell membrane NA PE1 14 +NX_Q96JJ7 454 51872 4.8 1 Endoplasmic reticulum membrane NA PE1 18 +NX_Q96JK2 942 103963 5.48 0 Mitochondrion NA PE1 14 +NX_Q96JK4 782 86731 7.69 0 Secreted NA PE1 14 +NX_Q96JK9 1138 122293 7.12 0 Nucleus speckle;Nucleus speckle NA PE1 4 +NX_Q96JL9 665 75544 8.27 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q96JM2 2506 284688 7.53 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q96JM3 812 89099 8.7 0 Nucleus;Nucleoplasm;Spindle;Nucleus;Chromosome;Kinetochore Mental retardation, autosomal dominant 40 PE1 13 +NX_Q96JM4 1722 199300 5.85 0 NA NA PE2 12 +NX_Q96JM7 780 88337 6.02 0 Nucleus;Nucleolus;Nucleus NA PE1 6 +NX_Q96JN0 433 47007 9.39 0 Nucleoplasm;Nucleus NA PE1 10 +NX_Q96JN2 1154 134045 4.63 1 Acrosome membrane;Nucleolus NA PE1 7 +NX_Q96JN8 1562 166907 5.57 0 Centriole NA PE1 17 +NX_Q96JP0 617 68673 7.6 0 Nucleoplasm;Cytosol;Cytoplasm NA PE1 5 +NX_Q96JP2 1530 167118 8.69 0 Cytoplasm NA PE1 17 +NX_Q96JP5 570 63445 7.02 0 Nucleolus;Nucleus;Nucleus NA PE1 11 +NX_Q96JP9 859 93595 5.34 1 Cell membrane Cone-rod dystrophy 15 PE1 10 +NX_Q96JQ0 3298 346181 4.79 1 Cell membrane;Cell membrane Van Maldergem syndrome 1;Mitral valve prolapse 2 PE1 11 +NX_Q96JQ2 1002 111651 4.84 1 Nucleus;Cytosol;Membrane NA PE1 14 +NX_Q96JQ5 239 25441 7.63 4 Membrane NA PE1 11 +NX_Q96JS3 809 92515 5.45 0 Nucleoplasm;Cytosol NA PE1 6 +NX_Q96JT2 553 59323 7.44 11 Cytoplasmic vesicle;Nucleoplasm;Membrane NA PE1 1 +NX_Q96JW4 573 62473 5.69 11 Endoplasmic reticulum;Cell membrane NA PE1 12 +NX_Q96JX3 654 74147 7.59 1 Membrane;Endoplasmic reticulum;Mitochondrion 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PE1 6 +NX_Q96JY0 434 49219 8.94 0 Nucleus;Cytoplasm NA PE1 1 +NX_Q96JY6 352 37459 9 0 Cytoplasm;Nucleus;Cytoskeleton;Focal adhesion;Cytoskeleton NA PE1 8 +NX_Q96JZ2 352 39002 6.64 0 Cytosol;Cytoplasm;Nucleus;Cell membrane;Focal adhesion NA PE1 19 +NX_Q96K12 515 59438 9.44 1 Peroxisome membrane;Nucleolus;Golgi apparatus NA PE1 12 +NX_Q96K17 158 17271 5.95 0 Cytosol;Nucleus NA PE1 1 +NX_Q96K19 258 29815 5.34 3 Endoplasmic reticulum;Endoplasmic reticulum membrane Ataxia, sensory, 1, autosomal dominant PE1 8 +NX_Q96K21 471 51546 5.57 0 Midbody ring;Centrosome;Cleavage furrow NA PE1 15 +NX_Q96K30 269 28619 11.07 0 Nucleus;Cytoplasm;Nucleus;Centrosome NA PE1 12 +NX_Q96K31 380 43273 5.31 0 NA NA PE1 8 +NX_Q96K37 410 44773 9.82 9 Golgi apparatus;Membrane NA PE1 19 +NX_Q96K49 555 63536 7.16 7 Golgi apparatus membrane;Golgi apparatus;Cytoplasmic vesicle NA PE1 2 +NX_Q96K58 619 67890 9.2 0 Nucleus;Nucleolus;Nucleus NA PE1 16 +NX_Q96K62 511 54008 6.44 0 Cytosol;Nucleus NA PE1 19 +NX_Q96K75 400 45938 9.13 0 Nucleus;Nucleoplasm;Nucleus NA PE1 2 +NX_Q96K76 1375 157311 4.97 0 Cytoplasm;Cytoskeleton NA PE1 11 +NX_Q96K78 797 88909 8.77 7 Membrane NA PE1 3 +NX_Q96K80 434 46052 7.58 0 Cytoplasmic vesicle;Nucleus NA PE1 12 +NX_Q96K83 1311 147866 6.56 0 Nucleoplasm;Nucleus NA PE1 18 +NX_Q96KA5 538 62229 8.71 6 Endoplasmic reticulum;Membrane NA PE1 5 +NX_Q96KB5 322 36085 4.98 0 Cytosol NA PE1 8 +NX_Q96KC2 179 20375 6.06 0 NA NA PE1 10 +NX_Q96KC8 554 63883 8.77 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus membrane;Microsome membrane NA PE1 10 +NX_Q96KC9 395 43003 4.07 0 Cytoplasm;Mitochondrion;Flagellum NA PE1 4 +NX_Q96KD3 344 38946 9.51 0 Cytosol NA PE2 7 +NX_Q96KE9 485 53411 5.87 0 Nucleoplasm;P-body NA PE1 14 +NX_Q96KF2 57 5959 9.9 0 Nucleus NA PE2 17 +NX_Q96KF7 97 11059 9.3 1 Membrane;Cytoplasmic vesicle NA PE1 6 +NX_Q96KG7 1140 122205 6.5 1 Cell membrane;Phagocytic cup Myopathy, early-onset, areflexia, respiratory distress, and dysphagia PE1 5 +NX_Q96KG9 808 89631 5.93 0 cis-Golgi network;Cytoplasm;Cytosol;Centrosome;Endoplasmic reticulum-Golgi intermediate compartment;Nucleus Spinocerebellar ataxia, autosomal recessive, 21 PE1 11 +NX_Q96KH6 178 19680 6.12 0 NA NA PE2 18 +NX_Q96KJ4 702 74540 6.71 1 Membrane NA PE3 16 +NX_Q96KJ9 171 20010 9.65 0 Mitochondrion inner membrane Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis PE1 20 +NX_Q96KK3 526 58372 6.71 6 Cell membrane NA PE1 20 +NX_Q96KK4 312 34384 8.64 7 Cell membrane NA PE2 6 +NX_Q96KK5 128 13906 10.88 0 Nucleus;Chromosome NA PE1 6 +NX_Q96KM6 892 97264 9.87 0 Nucleoplasm;Nucleus NA PE1 20 +NX_Q96KN1 310 34474 5.34 0 Nucleoplasm NA PE1 8 +NX_Q96KN2 507 56706 5.14 0 Secreted NA PE1 18 +NX_Q96KN3 472 52028 4.76 0 Nucleus;Nucleoplasm NA PE1 11 +NX_Q96KN4 292 32491 5.46 0 Nucleus NA PE1 2 +NX_Q96KN7 1286 146682 5.47 0 Cilium Cone-rod dystrophy 13;Leber congenital amaurosis 6 PE1 14 +NX_Q96KN8 279 30312 8.33 0 NA NA PE1 11 +NX_Q96KN9 370 40140 9.26 4 Cell membrane;Gap junction NA PE2 10 +NX_Q96KP1 924 104066 6.46 0 Midbody ring;Cytoplasmic vesicle NA PE1 6 +NX_Q96KP4 475 52878 5.66 0 Cytosol;Nucleoplasm;Cytoplasm NA PE1 18 +NX_Q96KP6 325 38943 7.56 0 NA NA PE1 4 +NX_Q96KQ4 1090 119565 6.33 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA PE1 14 +NX_Q96KQ7 1210 132370 5.3 0 Nucleoplasm;Chromosome;Nucleus;Nucleus speckle NA PE1 6 +NX_Q96KR1 1074 117012 9.17 0 Nucleus;Nucleoplasm;Nucleus;Cytoplasm;Cytoplasmic granule;Chromosome NA PE1 5 +NX_Q96KR4 655 73568 6.5 0 Cytosol;Focal adhesion;Cytoplasm;Lipid droplet NA PE1 3 +NX_Q96KR6 192 20424 10.45 2 Cell membrane;Mitochondrion outer membrane;Cytosol;Mitochondrion NA PE1 20 +NX_Q96KR7 559 62552 9.27 0 Nucleoplasm;Nucleus matrix NA PE1 20 +NX_Q96KS0 407 43650 8.18 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q96KS9 214 24182 5.93 0 Endoplasmic reticulum NA PE1 8 +NX_Q96KT0 104 11632 9.8 0 NA NA PE4 8 +NX_Q96KT6 92 9816 8.81 0 NA NA PE5 8 +NX_Q96KT7 338 35161 6.68 9 Membrane NA PE2 8 +NX_Q96KV6 586 65713 5.48 1 Membrane NA PE5 6 +NX_Q96KV7 1748 187437 6.56 0 Nucleus speckle NA PE1 16 +NX_Q96KW2 1035 109912 9.92 0 NA NA PE2 6 +NX_Q96KW9 195 21466 4.71 0 Secreted;Acrosome;Acrosome lumen NA PE1 13 +NX_Q96KX0 146 16433 8.6 0 Secreted;Acrosome;Flagellum NA PE1 3 +NX_Q96KX1 117 13276 9.54 0 Focal adhesion;Cytosol NA PE2 4 +NX_Q96KX2 299 35025 7.61 0 NA NA PE1 12 +NX_Q96L03 361 43499 9.87 0 Cytoplasm;Nucleus;Nucleolus NA PE1 1 +NX_Q96L08 255 27119 10.24 1 Cell membrane;Nucleus NA PE1 9 +NX_Q96L11 122 13527 5.89 0 Secreted NA PE2 7 +NX_Q96L12 384 44996 6.19 0 Endoplasmic reticulum lumen Cardiomyopathy, familial hypertrophic 19 PE1 19 +NX_Q96L14 293 32648 5.45 0 NA NA PE5 4 +NX_Q96L15 291 32054 8.52 0 Secreted NA PE1 11 +NX_Q96L21 214 24519 10.03 0 Nucleus NA PE1 14 +NX_Q96L33 236 26217 8.36 0 Cell membrane;Endosome membrane NA PE1 15 +NX_Q96L34 752 82520 9.7 0 Microtubule organizing center;Cilium basal body;Centrosome;Cilium axoneme;Cytoplasm;Cytosol NA PE1 19 +NX_Q96L42 1107 123804 6.46 6 Membrane NA PE2 3 +NX_Q96L46 248 27660 5.51 0 Cytoplasm;Cell membrane NA PE1 16 +NX_Q96L50 414 46723 9.27 0 Nucleus membrane;Nucleoplasm;Cytoplasmic vesicle NA PE1 14 +NX_Q96L58 329 37138 9.72 1 Golgi stack membrane Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures;Ehlers-Danlos syndrome, progeroid type, 2 PE1 1 +NX_Q96L73 2696 296652 8.4 0 Cell membrane;Nucleus;Nucleus;Chromosome Beckwith-Wiedemann syndrome;Sotos syndrome 1 PE1 5 +NX_Q96L91 3159 343489 9.27 0 Nucleus;Nucleus NA PE1 12 +NX_Q96L92 541 61265 6.06 0 Nucleoplasm;Cytosol;Early endosome membrane;Cytosol NA PE1 1 +NX_Q96L93 1317 152011 5.86 0 Mitochondrion;Cytoskeleton;Early endosome membrane NA PE1 20 +NX_Q96L94 193 22068 9.6 0 Nucleoplasm;Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA PE1 15 +NX_Q96L96 1907 201272 7.73 0 Nucleus;Nucleus NA PE1 15 +NX_Q96LA5 508 55542 5.98 1 Cell membrane NA PE1 1 +NX_Q96LA6 429 46936 5.32 1 Cell membrane NA PE1 1 +NX_Q96LA8 375 41938 5.32 0 Nucleus;Nucleus;Nucleolus NA PE1 1 +NX_Q96LA9 322 36461 9 7 Cell membrane NA PE2 11 +NX_Q96LB0 322 36483 8.79 7 Cell membrane NA PE2 11 +NX_Q96LB1 330 37099 8.36 7 Cell membrane NA PE1 11 +NX_Q96LB2 322 36250 7.5 7 Cell membrane NA PE1 11 +NX_Q96LB3 600 69239 5.73 0 Golgi apparatus;Cilium;Cytoplasmic vesicle Bardet-Biedl syndrome 20 PE1 9 +NX_Q96LB4 118 13917 9.16 0 NA NA PE1 1 +NX_Q96LB8 373 40620 7.2 0 Secreted;Cytoplasmic vesicle;Cell membrane NA PE1 1 +NX_Q96LB9 341 37611 6.48 0 Secreted NA PE1 1 +NX_Q96LC7 697 76592 8.69 1 Cytoskeleton;Cell membrane;Cell membrane;Secreted;Cytosol NA PE1 19 +NX_Q96LC9 184 20508 4.91 0 Nucleoplasm NA PE1 15 +NX_Q96LD1 299 32949 7.59 1 Cytoskeleton;Sarcolemma NA PE2 8 +NX_Q96LD4 638 69532 6.03 0 Cytosol;Cytoplasm;Nucleus NA PE1 17 +NX_Q96LD8 212 24107 5.6 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 15 +NX_Q96LI5 555 63001 6.26 0 Cytosol;Nucleus;Cytoplasm NA PE1 4 +NX_Q96LI6 401 45107 6.68 0 Nucleus;Cytoplasm NA PE1 Y +NX_Q96LI9 332 38899 10.19 0 NA NA PE2 X +NX_Q96LJ7 313 33909 8.01 0 Endoplasmic reticulum;Nucleus;Centrosome;Cytosol NA PE1 14 +NX_Q96LJ8 280 30811 8.87 0 Cilium;Nucleoplasm;Cell membrane;Cell junction NA PE1 1 +NX_Q96LK0 163 19166 5.24 0 Centrosome;Spindle pole;Centriole;Cilium basal body Morbid obesity and spermatogenic failure PE1 3 +NX_Q96LK8 384 42325 4.7 0 NA NA PE1 17 +NX_Q96LL3 132 14383 9.23 1 Membrane NA PE2 16 +NX_Q96LL4 319 36790 8.84 0 Nucleoplasm;Cytosol NA PE1 8 +NX_Q96LL9 226 25961 10.49 0 NA NA PE1 7 +NX_Q96LM1 132 14531 9.93 0 NA NA PE5 12 +NX_Q96LM5 186 21723 9.97 0 NA NA PE1 4 +NX_Q96LM6 180 20615 7.14 0 Cytoplasm;Nucleus NA PE1 2 +NX_Q96LM9 149 16552 6.25 0 NA NA PE2 20 +NX_Q96LP2 452 52032 9.15 0 NA NA PE1 5 +NX_Q96LP6 360 39738 9.69 0 NA NA PE2 12 +NX_Q96LQ0 422 49440 9.41 0 NA NA PE1 14 +NX_Q96LR2 239 25806 4.74 0 Cytoplasmic vesicle;Cytoplasm NA PE1 1 +NX_Q96LR4 140 15682 9.24 0 Secreted NA PE1 3 +NX_Q96LR5 201 22255 7.59 0 Nucleoplasm NA PE1 3 +NX_Q96LR7 162 17838 9.51 0 NA NA PE1 2 +NX_Q96LR9 279 30546 10.45 3 Nucleoplasm;Cell membrane;Cytosol NA PE2 12 +NX_Q96LS8 159 17367 9.49 0 NA NA PE2 2 +NX_Q96LT4 415 48321 8.35 6 Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 10 +NX_Q96LT6 269 29561 5.41 0 Cytosol;Cell membrane NA PE2 1 +NX_Q96LT7 481 54328 5.82 0 Nucleus;Cytoplasm;Endosome;Lysosome;Autophagosome;Secreted Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PE1 9 +NX_Q96LT9 517 58575 7.61 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q96LU5 166 18504 8.29 0 Mitochondrion inner membrane NA PE1 11 +NX_Q96LU7 910 101670 6.4 1 Membrane;Nucleolus NA PE2 12 +NX_Q96LW1 612 70529 9.6 0 Nucleus;Nucleoplasm NA PE1 5 +NX_Q96LW2 274 31044 9.12 0 Cell membrane;Cytoplasmic vesicle;Nucleoplasm NA PE2 17 +NX_Q96LW4 560 64383 5.15 0 Nucleus;Cytoplasm;Cytosol;Nucleoplasm;Nucleus;Mitochondrion matrix Myopia 22, autosomal dominant PE1 4 +NX_Q96LW7 228 25589 9.43 0 Nucleus;Mitochondrion;Nucleus;Endoplasmic reticulum membrane;Mitochondrion membrane NA PE1 9 +NX_Q96LW9 406 47293 6.42 0 Nucleoplasm;Cytosol;Nucleus NA PE1 6 +NX_Q96LX7 622 67721 6.76 0 NA NA PE1 1 +NX_Q96LX8 424 48076 6.29 0 Nucleus;Cytosol;Nucleus;Nucleolus NA PE1 16 +NX_Q96LY2 380 41826 10.46 0 NA NA PE2 2 +NX_Q96LZ2 347 38971 5.74 0 NA NA PE1 X +NX_Q96LZ3 170 19533 4.73 0 NA NA PE1 9 +NX_Q96LZ7 410 47399 6.12 1 Spindle pole;Cytoplasm;Spindle;Membrane;Cytosol NA PE1 2 +NX_Q96M02 699 77910 9.21 0 Cytoplasm;Nucleoplasm;Cell membrane;Cytosol;Centrosome NA PE1 10 +NX_Q96M11 299 34359 6.98 0 Cytosol;Cytoplasm;Cell membrane;Cilium;Centriole Hydrolethalus syndrome 1 PE1 11 +NX_Q96M15 143 15995 9.42 0 NA NA PE2 3 +NX_Q96M19 166 18185 10.52 3 Membrane NA PE5 12 +NX_Q96M20 576 67512 9.33 0 Cytosol NA PE1 20 +NX_Q96M27 445 46701 5.56 0 Golgi apparatus;Cytoplasmic vesicle NA PE1 5 +NX_Q96M29 485 56294 6.8 0 Flagellum;Cytoskeleton NA PE1 16 +NX_Q96M32 723 82658 4.67 0 Cytosol NA PE1 14 +NX_Q96M34 536 60162 5.51 0 NA NA PE1 3 +NX_Q96M42 142 15208 8.28 0 NA NA PE5 21 +NX_Q96M43 638 72053 4.83 0 Cytoplasm NA PE2 1 +NX_Q96M53 351 39460 9.21 0 Cytosol NA PE2 10 +NX_Q96M60 508 59956 9 0 Nucleus speckle NA PE2 15 +NX_Q96M61 343 38533 6.81 0 Cytoplasm NA PE1 X +NX_Q96M63 670 75046 5.87 0 Cilium Ciliary dyskinesia, primary, 20 PE1 19 +NX_Q96M66 194 20693 9.73 0 NA NA PE2 16 +NX_Q96M69 825 93618 6 0 Acrosome;Cytoskeleton;Cilium basal body NA PE1 7 +NX_Q96M78 137 15528 6.44 0 NA NA PE2 8 +NX_Q96M83 1385 157448 7.16 0 Cytosol;Nucleolus NA PE1 10 +NX_Q96M85 177 19601 9.71 0 NA NA PE2 22 +NX_Q96M86 4753 533644 6.25 0 Cytoskeleton;Nucleoplasm NA PE1 11 +NX_Q96M89 665 76219 8.75 0 Cytosol;Nucleus NA PE1 2 +NX_Q96M91 514 61835 9 0 Midbody;Cilium Heterotaxy, visceral, 6, autosomal PE1 18 +NX_Q96M93 576 64411 9.14 0 Nucleus NA PE1 4 +NX_Q96M94 604 69775 5.98 0 Nucleus;Cytosol Mental retardation, X-linked 103 PE1 X +NX_Q96M95 316 38019 9.18 0 NA NA PE1 17 +NX_Q96M96 766 86626 5.8 0 Cytoskeleton;Filopodium;Cytoskeleton Charcot-Marie-Tooth disease 4H PE1 12 +NX_Q96M98 296 33342 8.42 0 NA NA PE1 6 +NX_Q96MA1 342 36205 6.6 0 Nucleus NA PE1 1 +NX_Q96MA6 479 54926 5.77 0 Cytosol NA PE1 9 +NX_Q96MB7 349 39146 5.28 0 Cell membrane;Nucleus;Cytoplasm;Cytosol NA PE1 11 +NX_Q96MC2 740 87134 5.3 0 Cilium axoneme Ciliary dyskinesia, primary, 21 PE1 2 +NX_Q96MC4 621 69839 9.65 0 Cytoplasmic vesicle;Cilium NA PE1 17 +NX_Q96MC5 204 23732 5.93 0 Cytosol;Nucleoplasm NA PE1 16 +NX_Q96MC6 490 53027 8.63 12 Cytoplasmic vesicle;Membrane NA PE1 1 +NX_Q96MC9 270 29841 10.45 0 NA NA PE2 1 +NX_Q96MD2 445 50415 8.95 0 Lysosome membrane;Cytoskeleton;Spindle;Cytoskeleton NA PE1 12 +NX_Q96MD7 179 20166 9.54 0 Nucleus;Golgi apparatus;Nucleolus NA PE1 9 +NX_Q96ME1 805 88341 8.73 0 Nucleoplasm;Cytosol NA PE1 7 +NX_Q96ME7 567 64682 9.8 0 Nucleus;Nucleus NA PE1 2 +NX_Q96MF0 132 14640 8.82 0 NA NA PE5 15 +NX_Q96MF2 364 41507 6.5 0 Nucleoplasm;Cytosol Native American myopathy PE1 12 +NX_Q96MF4 163 18252 10.64 0 NA NA PE2 2 +NX_Q96MF6 247 27686 9.81 0 Endoplasmic reticulum;Cytosol;Mitochondrion inner membrane;Golgi apparatus NA PE1 12 +NX_Q96MF7 247 27932 7.62 0 Telomere;Nucleus;Nucleus;Nucleus;PML body Seckel syndrome 10 PE1 8 +NX_Q96MG2 331 36319 9.43 0 Endoplasmic reticulum;Sarcoplasmic reticulum membrane;Endoplasmic reticulum membrane NA PE1 19 +NX_Q96MG7 304 34308 9.3 0 Cytoplasm;Nucleus;Telomere Lung disease, immunodeficiency, and chromosome breakage syndrome PE1 15 +NX_Q96MG8 357 40675 5.46 0 Cell membrane;Membrane;Cytoplasm;Nucleoplasm NA PE1 8 +NX_Q96MH2 286 32419 6.13 0 Nucleus speckle;Nucleoplasm;Nucleus NA PE1 17 +NX_Q96MH6 324 37425 7.72 2 Cytoplasmic vesicle;Membrane NA PE1 8 +NX_Q96MH7 638 72898 8.16 0 NA NA PE1 5 +NX_Q96MI6 270 30375 5.34 0 Nucleus;Nucleus NA PE1 3 +NX_Q96MI9 1066 120281 6.85 0 Cytosol Corneal dystrophy, Fuchs endothelial, 8 PE1 15 +NX_Q96MK2 946 105290 7.26 0 Nucleoplasm NA PE1 20 +NX_Q96MK3 541 61417 8.2 0 Secreted;Golgi apparatus;Endoplasmic reticulum Amelogenesis imperfecta 1G PE1 17 +NX_Q96MM3 310 34802 9.12 0 Nucleus NA PE1 4 +NX_Q96MM6 686 75688 8.81 0 NA NA PE1 20 +NX_Q96MM7 605 69130 9.79 1 Nucleoplasm;Membrane NA PE1 X +NX_Q96MN2 994 113415 5.54 0 NA NA PE1 19 +NX_Q96MN5 208 24150 10.05 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA PE1 1 +NX_Q96MN9 340 36962 9.2 0 Cytosol;Nucleoplasm;Nucleus NA PE1 10 +NX_Q96MP5 696 79454 7.27 0 Cytoplasmic vesicle;Cytosol;Nucleolus NA PE1 20 +NX_Q96MP8 289 33132 5.58 0 Cell membrane;Cytosol Epilepsy, progressive myoclonic 3, with or without intracellular inclusions PE1 7 +NX_Q96MR6 1250 144961 5.61 0 Cytosol NA PE1 1 +NX_Q96MR7 158 17524 11.82 0 NA NA PE5 1 +NX_Q96MR9 790 91121 8.99 0 Nucleus NA PE2 19 +NX_Q96MS0 1386 148209 6.74 1 Membrane Gaze palsy, familial horizontal, with progressive scoliosis, 1 PE1 11 +NX_Q96MS3 346 38507 6.02 0 Cytosol;Secreted NA PE1 12 +NX_Q96MT0 163 16963 5.29 0 NA NA PE2 10 +NX_Q96MT1 663 75617 6.39 14 Cytoplasm;Membrane;Nucleoplasm;Cell membrane;Cytosol NA PE1 5 +NX_Q96MT3 831 94300 5.84 0 Cytosol;Nucleoplasm;Nucleus membrane Neural tube defects;Epilepsy, progressive myoclonic 1B PE1 12 +NX_Q96MT4 127 13896 7.59 0 NA NA PE1 6 +NX_Q96MT7 982 111729 4.75 0 Flagellum NA PE1 3 +NX_Q96MT8 703 81344 5.78 0 Nucleoplasm;Centrosome;Centriole;Centriolar satellite Seckel syndrome 6 PE1 3 +NX_Q96MU5 243 26264 6.58 0 Secreted NA PE2 17 +NX_Q96MU6 729 81964 8.77 0 Nucleus;Nucleus;Nucleus NA PE1 16 +NX_Q96MU7 727 84700 5.87 0 Nucleus;Cell membrane;Nucleoplasm;Nucleus speckle;Nucleus NA PE1 4 +NX_Q96MU8 473 51744 6.69 1 Cell membrane;Nucleoplasm;Cytosol;Nucleus Ectodermal dysplasia 13, hair/tooth type PE1 22 +NX_Q96MV1 263 30041 9.4 6 Membrane;Nucleus speckle NA PE1 1 +NX_Q96MV8 337 39331 8.42 4 Nucleus speckle;Cytosol;Membrane Mental retardation, X-linked 91 PE2 X +NX_Q96MW1 224 25248 4.85 0 Cytosol NA PE1 17 +NX_Q96MW5 612 68424 5.12 0 Golgi apparatus;Golgi apparatus membrane Congenital disorder of glycosylation 2H PE1 16 +NX_Q96MW7 591 67299 8.53 0 Nucleus;Nucleus;Nucleolus;Nucleus NA PE1 2 +NX_Q96MX0 182 19714 4.39 3 Nucleoplasm;Membrane NA PE1 16 +NX_Q96MX3 618 67820 9.51 0 Mitochondrion;Nucleus NA PE1 16 +NX_Q96MX6 357 39740 8.32 0 Nucleoplasm NA PE1 2 +NX_Q96MY1 436 47215 4.92 0 Nucleoplasm NA PE1 20 +NX_Q96MY7 647 73647 9.44 0 NA NA PE1 14 +NX_Q96MZ0 367 41973 6.13 0 Endoplasmic reticulum NA PE1 20 +NX_Q96MZ4 157 17021 11.82 0 NA NA PE1 4 +NX_Q96N03 204 22349 8.75 0 NA NA PE1 20 +NX_Q96N06 139 15461 9.27 0 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 16 +NX_Q96N11 449 50047 7.61 0 Cytoskeleton;Nucleolus;Nucleus;Cytosol NA PE1 7 +NX_Q96N16 626 73209 5.84 0 Cytoskeleton;Membrane NA PE1 4 +NX_Q96N19 417 46059 8.78 7 Cytoskeleton;Membrane;Nucleolus;Nucleus NA PE1 11 +NX_Q96N20 296 34694 9.55 0 Nucleolus;Nucleus;Nucleoplasm NA PE1 16 +NX_Q96N21 525 55137 6.57 0 Golgi apparatus;Nucleus membrane;Cytoplasmic vesicle;trans-Golgi network membrane;Cytosol;Nucleus speckle NA PE1 17 +NX_Q96N22 645 75059 9.27 0 Nucleus NA PE2 19 +NX_Q96N23 3096 351970 8.41 0 Cilium axoneme;Cytosol;Cytoskeleton NA PE1 12 +NX_Q96N28 172 19247 7.02 0 Mitochondrion NA PE1 18 +NX_Q96N35 136 15076 7.18 1 Membrane NA PE5 15 +NX_Q96N38 554 63883 9.29 0 Nucleus NA PE1 19 +NX_Q96N46 770 88319 8.77 0 Nucleus NA PE1 3 +NX_Q96N53 147 15424 11.86 0 NA NA PE5 11 +NX_Q96N58 590 68531 9.19 0 Nucleus NA PE1 19 +NX_Q96N64 755 81960 9.09 0 Nucleus;Focal adhesion;Nucleoplasm NA PE1 5 +NX_Q96N66 472 52765 9.16 7 Cytosol;Membrane Mental retardation, autosomal recessive 57 PE1 19 +NX_Q96N67 2140 242561 6.34 0 Axon Epileptic encephalopathy, early infantile, 23 PE1 1 +NX_Q96N68 181 19136 7.45 1 Membrane NA PE5 18 +NX_Q96N76 676 74831 6.34 0 NA Urocanase deficiency PE1 3 +NX_Q96N77 438 49528 5.78 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q96N87 628 70897 7.03 12 Endoplasmic reticulum;Membrane NA PE2 5 +NX_Q96N95 335 38612 8.26 0 Nucleus;Cytoplasm NA PE1 18 +NX_Q96N96 652 74820 7.01 0 Cytosol;Filopodium;Cytoplasm;Nucleoplasm;Ruffle membrane;Lamellipodium NA PE1 13 +NX_Q96NA2 401 44200 5.47 0 Late endosome membrane;Lysosome membrane;Phagosome membrane NA PE1 17 +NX_Q96NA8 513 55949 9.23 1 Cell membrane;Nucleus;Membrane NA PE1 8 +NX_Q96NB1 174 19778 6.6 0 Cilium;Centriole;Centriolar satellite;Cytoplasmic granule;Centrosome;Cilium basal body;Centrosome NA PE1 16 +NX_Q96NB2 322 36232 9.48 5 Mitochondrion membrane;Mitochondrion NA PE1 10 +NX_Q96NB3 372 41999 5.22 0 Nucleoplasm;Chromosome;Nucleus speckle;Nucleus NA PE1 17 +NX_Q96NC0 199 23612 9.08 0 Nucleus;Mitochondrion;Nucleus NA PE1 5 +NX_Q96ND0 272 30777 9.77 1 Golgi apparatus;Nucleus;Mitochondrion;Membrane;Mitochondrion NA PE1 18 +NX_Q96ND8 569 66033 9.07 0 Cytosol;Nucleolus;Nucleus NA PE1 19 +NX_Q96NE9 622 72044 7.12 0 Mitochondrion;Cytoplasm;Cell membrane NA PE1 14 +NX_Q96NF6 230 25558 9.67 1 Membrane NA PE2 8 +NX_Q96NG3 672 76655 5.49 0 Cytoplasm;Cilium axoneme Ciliary dyskinesia, primary, 35 PE1 17 +NX_Q96NG5 402 45755 9.2 0 Nucleus NA PE1 19 +NX_Q96NG8 517 60498 8.79 0 Nucleoplasm;Nucleus;Cytosol NA PE1 19 +NX_Q96NH3 1257 144756 6.3 0 Mitochondrion;Cytoplasm;Cilium NA PE1 6 +NX_Q96NI6 719 79445 7.26 1 Membrane NA PE1 14 +NX_Q96NI8 536 62330 8.63 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q96NJ1 140 14269 11.49 0 NA NA PE2 9 +NX_Q96NJ3 590 68261 8.59 0 Nucleus NA PE1 19 +NX_Q96NJ5 620 70362 5.97 0 NA NA PE2 6 +NX_Q96NJ6 502 57662 6.99 0 Cytosol;Nucleoplasm;Nucleus NA PE1 17 +NX_Q96NK8 337 38705 8.76 0 Nucleus NA PE1 7 +NX_Q96NL0 473 52813 5.44 0 NA NA PE1 7 +NX_Q96NL1 305 33338 5.12 2 Cytosol;Autophagosome membrane;Lysosome membrane NA PE1 8 +NX_Q96NL3 588 67492 8.73 0 Cytosol;Nucleoplasm;Cell membrane;Nucleus NA PE1 19 +NX_Q96NL6 688 80910 5.83 0 Cytosol;Centriole;Cytoskeleton NA PE1 4 +NX_Q96NL8 207 23381 6.52 0 Cell membrane;Cytoplasm;Cell junction;Cytosol Retinitis pigmentosa 64;Bardet-Biedl syndrome 21;Cone-rod dystrophy 16 PE1 8 +NX_Q96NM4 488 51604 6.23 0 Nucleus;Nucleoplasm NA PE1 20 +NX_Q96NN9 605 66791 9.2 0 Mitochondrion;Mitochondrion NA PE1 22 +NX_Q96NR2 134 14382 11.88 0 NA NA PE2 20 +NX_Q96NR3 888 101341 8.57 11 Cell membrane Autism, X-linked 4 PE2 X +NX_Q96NR7 200 21356 12.28 0 NA NA PE5 4 +NX_Q96NR8 316 35094 9.73 0 NA Leber congenital amaurosis 13;Retinitis pigmentosa 53 PE1 14 +NX_Q96NS1 127 14301 8.42 0 Nucleolus NA PE2 11 +NX_Q96NS5 453 49637 8.39 0 Focal adhesion NA PE1 17 +NX_Q96NS8 147 16687 6.48 0 NA NA PE5 16 +NX_Q96NT0 180 19761 6.44 0 Endosome;Lysosome;Cell membrane;Endoplasmic reticulum-Golgi intermediate compartment;COPI-coated vesicle;Endoplasmic reticulum;Cytoplasmic vesicle Congenital disorder of glycosylation 2O PE1 2 +NX_Q96NT1 182 19593 4.12 0 Cytosol;Nucleus;Nucleoplasm NA PE1 4 +NX_Q96NT3 240 27207 6.4 0 Nucleoplasm NA PE1 22 +NX_Q96NT5 459 49771 9.03 12 Apical cell membrane;Cytoplasm;Cytosol;Cell membrane Hereditary folate malabsorption PE1 17 +NX_Q96NU0 1288 140468 7.49 1 Membrane NA PE2 9 +NX_Q96NU1 681 72708 7.34 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA PE1 1 +NX_Q96NU7 426 46743 6.14 0 Cell membrane;Cytoskeleton;Focal adhesion NA PE1 12 +NX_Q96NW4 1050 116984 6.42 0 Endosome;Cytosol;Early endosome;Late endosome;Cytoplasmic vesicle membrane;Lysosome;Cell membrane;Melanosome NA PE1 19 +NX_Q96NW7 1537 172581 6.37 0 Postsynaptic density;Cytoplasm NA PE1 1 +NX_Q96NX5 476 53087 7.83 0 Cytoplasm;Golgi apparatus membrane;Cell membrane NA PE1 1 +NX_Q96NX9 599 65323 9.22 0 Nucleus NA PE2 X +NX_Q96NY7 704 73012 4.29 1 Cytoplasm;Cell membrane NA PE1 21 +NX_Q96NY8 510 55454 5.23 1 Cell membrane;Secreted;Adherens junction;Cell membrane Ectodermal dysplasia-syndactyly syndrome 1 PE1 1 +NX_Q96NY9 551 61173 9.78 0 Nucleolus;Nucleus;Nucleolus NA PE1 11 +NX_Q96NZ1 517 55215 5.93 0 Nucleus;Cytosol;Mitochondrion;Nucleus NA PE1 12 +NX_Q96NZ8 548 58798 5.84 0 Secreted NA PE1 16 +NX_Q96NZ9 151 17208 5.2 0 Cell membrane;Nucleoplasm;Secreted;Cytoplasmic vesicle NA PE1 10 +NX_Q96P09 236 27089 6.99 0 Cytoplasm NA PE1 19 +NX_Q96P11 429 46692 8.91 0 NA NA PE1 7 +NX_Q96P15 392 44099 8.42 0 Cytoplasm NA PE2 18 +NX_Q96P16 312 35720 7.13 0 Nucleus;Golgi apparatus NA PE1 18 +NX_Q96P20 1036 118173 6.22 0 Cytosol;Inflammasome;Endoplasmic reticulum;Secreted;Nucleus Muckle-Wells syndrome;Chronic infantile neurologic cutaneous and articular syndrome;Familial cold autoinflammatory syndrome 1 PE1 1 +NX_Q96P26 610 68804 9.03 0 Cytoplasm NA PE1 2 +NX_Q96P31 734 80856 6.56 1 Cell membrane Rheumatoid arthritis PE1 1 +NX_Q96P44 957 99369 8.57 0 Cytosol;Extracellular matrix;Cytoplasm NA PE1 6 +NX_Q96P47 875 95044 8.22 0 Cytoplasm NA PE1 7 +NX_Q96P48 1450 162192 5.86 0 Cytoplasmic vesicle;Cell membrane;Cell membrane;Cytosol;Golgi stack membrane;Cytoplasm;Nucleoplasm NA PE1 11 +NX_Q96P50 834 92495 5.69 0 Golgi apparatus;Nucleoplasm NA PE1 1 +NX_Q96P53 400 45154 6.46 0 Cytoplasm;Endosome;Early endosome NA PE1 13 +NX_Q96P56 530 62041 6.83 6 Flagellum membrane Deafness-infertility syndrome PE1 15 +NX_Q96P63 405 46276 5.36 0 Cytoplasm NA PE1 18 +NX_Q96P64 663 73070 7.03 0 NA NA PE2 10 +NX_Q96P65 431 49488 9.27 7 Cell membrane NA PE2 4 +NX_Q96P66 508 56716 5.51 7 Cell membrane Pituitary adenoma, growth hormone-secreting, 2 PE1 X +NX_Q96P67 336 38409 9.21 6 Cell membrane NA PE2 X +NX_Q96P68 337 38251 8.54 7 Cell membrane;Cell membrane NA PE2 13 +NX_Q96P69 363 39332 10.26 7 Cell membrane NA PE1 4 +NX_Q96P70 1041 115963 4.71 0 Cytosol;Cytoplasm;Nucleus;Cytoplasmic vesicle NA PE1 1 +NX_Q96P71 396 44350 5.83 0 Golgi apparatus;Golgi apparatus NA PE1 20 +NX_Q96P88 292 32537 9.45 5 Cell membrane NA PE5 1 +NX_Q96PB1 797 91680 9.04 15 Nucleoplasm;Golgi apparatus membrane NA PE1 7 +NX_Q96PB7 478 54930 8.29 0 Cytoplasmic vesicle;Secreted;Synapse NA PE1 1 +NX_Q96PB8 259 29275 6.49 1 Membrane NA PE1 3 +NX_Q96PC2 410 46417 8.28 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 6 +NX_Q96PC3 154 18280 6.32 0 Cytoplasmic vesicle;Golgi apparatus;Cytoplasmic vesicle membrane;Clathrin-coated pit Psoriasis 15, pustular PE1 2 +NX_Q96PC5 1412 159836 4.61 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 14 +NX_Q96PD2 775 85035 6.77 1 Cell membrane;Cytosol;Membrane;Cell membrane;Golgi apparatus NA PE1 3 +NX_Q96PD4 163 18045 9.15 0 Secreted Candidiasis, familial, 6 PE1 6 +NX_Q96PD5 576 62217 7.25 0 Cell junction;Secreted;Membrane NA PE1 19 +NX_Q96PD6 335 38812 9.52 3 Endoplasmic reticulum membrane NA PE2 2 +NX_Q96PD7 388 43831 9.46 2 Endoplasmic reticulum membrane;Lipid droplet NA PE1 11 +NX_Q96PE1 1338 142647 8.82 7 Filopodium;Cell membrane NA PE1 8 +NX_Q96PE2 2063 221673 5.9 0 Cytosol NA PE1 11 +NX_Q96PE3 977 109956 6.53 0 Nucleus;Nucleus membrane NA PE1 2 +NX_Q96PE5 141 15683 5.83 1 Cell membrane;Golgi apparatus;Cell membrane NA PE1 10 +NX_Q96PE6 472 54498 9.43 0 Nucleus NA PE1 19 +NX_Q96PE7 176 18749 9.17 0 Cytoplasm;Nucleolus;Mitochondrion Methylmalonyl-CoA epimerase deficiency PE1 2 +NX_Q96PF1 710 79941 6.54 0 NA NA PE2 15 +NX_Q96PF2 358 40939 9.02 0 Centriole;Cytoplasm NA PE1 22 +NX_Q96PG1 132 15209 8.42 2 Membrane NA PE2 11 +NX_Q96PG2 267 29747 9.14 4 Membrane NA PE2 11 +NX_Q96PG8 261 26498 11.98 0 Mitochondrion NA PE1 19 +NX_Q96PH1 765 86439 8.88 7 Membrane;Endoplasmic reticulum NA PE1 15 +NX_Q96PH6 123 13614 6.88 0 Secreted NA PE1 20 +NX_Q96PI1 79 8793 9.76 0 Cytoplasm;Cell cortex NA PE2 1 +NX_Q96PJ5 515 57224 6.08 1 Cell membrane NA PE1 1 +NX_Q96PK6 669 69492 9.68 0 Nucleus speckle;Cytoplasm;Nucleolus;Nucleus NA PE1 11 +NX_Q96PL1 93 10161 6.71 0 Secreted NA PE1 5 +NX_Q96PL2 329 36956 8.34 0 Cell membrane;Extracellular matrix NA PE2 10 +NX_Q96PL5 475 52605 8.75 1 Cell membrane;Cytoplasm NA PE1 1 +NX_Q96PM5 261 30110 6.26 0 Nucleus;Cytosol;Cytoplasm;Nucleus speckle;Nucleoplasm NA PE1 4 +NX_Q96PM9 386 40454 9.88 0 Nucleus;Cytosol;Cytoplasm;Nucleolus;Dendrite NA PE1 12 +NX_Q96PN6 1610 187149 6.99 0 Mitochondrion;Perinuclear region;Cytoskeleton;Cell membrane;Cilium;Cytoplasm;Nucleus Hypercalciuria absorptive 2 PE1 1 +NX_Q96PN7 1200 132256 6.26 0 Cytosol;Nucleoplasm;Nucleus NA PE1 6 +NX_Q96PN8 268 30102 6.25 0 Nucleolus;Nucleus;Nucleus NA PE1 1 +NX_Q96PP4 275 31778 10.07 0 NA NA PE1 7 +NX_Q96PP8 586 66617 5.38 0 Cytoplasm;Endoplasmic reticulum;Golgi apparatus membrane NA PE1 1 +NX_Q96PP9 640 73165 5.73 0 Cell membrane;Cytoplasm;Perinuclear region;Nucleus;Golgi apparatus membrane NA PE1 1 +NX_Q96PQ0 1159 128152 6.64 1 Membrane;Cytosol;Nucleus NA PE1 4 +NX_Q96PQ1 595 64984 6.21 1 Membrane NA PE1 19 +NX_Q96PQ5 205 22863 4.73 0 NA NA PE5 6 +NX_Q96PQ6 595 67959 9.21 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q96PQ7 755 84457 6.2 0 Cytoskeleton NA PE1 4 +NX_Q96PR1 638 70226 8.24 6 Membrane;Basolateral cell membrane;Apical cell membrane;Axon;Dendrite;Postsynaptic cell membrane;Cell membrane;Cytosol;Presynaptic cell membrane;Synaptosome;Synapse;Cell membrane;Perikaryon NA PE1 12 +NX_Q96PS1 177 20188 9.45 0 NA NA PE2 3 +NX_Q96PS6 74 8425 8.48 1 Membrane NA PE4 14 +NX_Q96PS8 301 31763 6.29 5 Membrane NA PE1 1 +NX_Q96PT3 197 22164 10.66 0 Nucleus NA PE2 unknown +NX_Q96PT4 197 22130 10.87 0 Nucleus NA PE2 unknown +NX_Q96PU4 802 89985 8.55 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q96PU5 975 111932 5.56 0 Focal adhesion;Cytoplasm;Golgi apparatus;Multivesicular body Periventricular nodular heterotopia 7 PE1 18 +NX_Q96PU8 341 37671 8.63 0 Cytoplasm;Nucleus;Nucleoplasm NA PE1 6 +NX_Q96PU9 254 27710 9.9 0 Cytoplasm NA PE1 11 +NX_Q96PV0 1343 148284 9.12 0 Nucleus Mental retardation, autosomal dominant 5 PE1 6 +NX_Q96PV4 448 49934 6.33 0 NA NA PE1 X +NX_Q96PV6 779 86129 9.43 0 Nucleus NA PE1 19 +NX_Q96PV7 902 96543 8.18 0 Nucleus;Cytoplasm;Nucleolus;Nucleus NA PE1 5 +NX_Q96PW8 444 48591 4.63 0 NA NA PE5 15 +NX_Q96PX1 679 73579 4.6 0 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus NA PE1 17 +NX_Q96PX6 553 59976 9.03 0 NA NA PE1 2 +NX_Q96PX8 696 77735 6.01 1 Membrane;Secreted;Synapse Trichotillomania PE1 13 +NX_Q96PX9 1271 139667 6.33 0 Nucleoplasm NA PE1 5 +NX_Q96PY0 264 28245 11.15 0 NA NA PE5 7 +NX_Q96PY5 1086 123321 6.98 0 Cytosol;Cell membrane;Cytoplasm;Golgi apparatus NA PE1 2 +NX_Q96PY6 1258 142828 5.67 0 Nucleolus;Nucleus membrane;Nucleus;Cytoplasm;Centrosome Short-rib thoracic dysplasia 6 with or without polydactyly PE1 4 +NX_Q96PZ0 661 75035 5.98 0 Nucleus NA PE1 7 +NX_Q96PZ2 611 70196 8.77 0 Nucleolus;Nucleus;Nucleus;Cytoplasm Gracile bone dysplasia;Kenny-Caffey syndrome 2 PE1 11 +NX_Q96PZ7 3565 388869 5.68 1 Cytoplasmic vesicle;Membrane NA PE1 8 +NX_Q96Q04 1460 153661 4.77 1 Cell junction;Nucleoplasm;Membrane;Dendrite;Golgi apparatus membrane;Axon NA PE1 19 +NX_Q96Q05 1148 128530 6.17 0 Golgi apparatus;Nucleoplasm;Cytoplasmic vesicle;cis-Golgi network;Endoplasmic reticulum;Cytoplasm Mental retardation, autosomal recessive 13 PE1 8 +NX_Q96Q06 1357 134431 8.92 0 Cytosol;Cell membrane;Cytoplasmic vesicle;Cell membrane;Cytoplasm;Lipid droplet;Lipid droplet NA PE1 19 +NX_Q96Q07 612 69188 5.48 0 Nucleoplasm Restless legs syndrome 6 PE1 6 +NX_Q96Q11 434 50128 8.14 0 Mitochondrion;Mitochondrion;Mitochondrion Retinitis pigmentosa and erythrocytic microcytosis;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay PE1 3 +NX_Q96Q15 3661 410501 6.03 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 16 +NX_Q96Q27 587 65084 7.55 0 NA NA PE1 14 +NX_Q96Q35 445 52439 6.29 0 Flagellum;Cell membrane;Cytosol;Cytoplasm;Cytoplasmic granule NA PE1 2 +NX_Q96Q40 435 49023 6.68 0 Nucleus;Golgi apparatus NA PE1 2 +NX_Q96Q42 1657 183634 5.88 0 Cytosol;Cytoskeleton Infantile-onset ascending spastic paralysis;Juvenile primary lateral sclerosis;Amyotrophic lateral sclerosis 2 PE1 2 +NX_Q96Q45 408 45526 6.09 4 Membrane;Cilium Joubert syndrome 14 PE1 2 +NX_Q96Q77 187 21802 4.52 0 NA NA PE1 19 +NX_Q96Q80 235 26679 8.64 4 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA PE1 22 +NX_Q96Q83 286 33375 8.58 0 Nucleus;Cytoplasm;Nucleoplasm;Mitochondrion NA PE1 11 +NX_Q96Q89 1820 210629 5.54 0 Nucleus;Cytoplasm;Midbody;Cytosol;Midbody;Axon;Growth cone;Nucleoplasm;Nucleus;Centrosome;Nucleolus;Nucleoplasm;Spindle;Spindle pole NA PE1 10 +NX_Q96Q91 983 108248 6.66 12 Membrane NA PE2 5 +NX_Q96QA5 445 49365 5.19 0 Perinuclear region;Cytosol;Cell membrane NA PE1 17 +NX_Q96QA6 119 13577 8.21 0 Nucleolus NA PE1 17 +NX_Q96QB1 1528 170591 5.98 0 Nucleoplasm;Golgi apparatus;Cytoplasmic vesicle;Cytoplasm;Focal adhesion;Membrane NA PE1 8 +NX_Q96QC0 940 99058 9.22 0 Nucleus;Nucleoplasm;Nucleus;Nucleus NA PE1 6 +NX_Q96QD5 511 58310 7.62 0 Nucleus;Cytosol;Nucleolus NA PE1 11 +NX_Q96QD8 506 56026 8.08 11 Cell membrane;Cytoplasmic vesicle NA PE1 12 +NX_Q96QD9 318 35818 11.78 0 Nucleus envelope;Nucleus speckle;Nucleoplasm;Nucleus speckle NA PE1 3 +NX_Q96QE2 648 70371 5.81 12 Nucleus membrane;Membrane NA PE1 12 +NX_Q96QE3 1844 207570 9.27 0 Nucleus NA PE1 17 +NX_Q96QE4 947 105567 4.83 1 Cytosol;Membrane NA PE1 17 +NX_Q96QE5 360 41676 9.39 0 Mitochondrion nucleoid;Mitochondrion matrix;Mitochondrion NA PE1 17 +NX_Q96QF0 476 53021 5.73 0 Cytoplasm;Lamellipodium;Cytoskeleton;Nucleus;Cytoskeleton NA PE1 12 +NX_Q96QF7 691 76112 4.37 0 Cytoplasmic vesicle;Nucleus NA PE1 X +NX_Q96QG7 549 63462 5.98 0 Cytoskeleton;Centrosome;Cytoplasm NA PE1 8 +NX_Q96QH2 718 79245 9.63 0 Golgi apparatus NA PE1 19 +NX_Q96QH8 159 17896 5.94 0 Secreted NA PE1 X +NX_Q96QI5 342 37186 10.8 1 Golgi apparatus membrane NA PE1 16 +NX_Q96QK1 796 91707 5.32 0 Endosome;Cytoplasm;Endosome;Early endosome;Lysosome;Membrane;Endosome;Late endosome Parkinson disease 17 PE1 16 +NX_Q96QK8 99 10710 5.15 1 Mitochondrion;Endoplasmic reticulum membrane NA PE1 4 +NX_Q96QP1 1244 138861 5.83 0 Centrosome NA PE1 4 +NX_Q96QR1 104 10100 8.57 0 Secreted NA PE1 5 +NX_Q96QR8 312 33241 5.35 0 Nucleus;Nucleus NA PE1 7 +NX_Q96QS1 320 34631 8.81 4 Membrane NA PE1 11 +NX_Q96QS3 562 58160 5.14 0 Nucleus Agenesis of the corpus callosum, with abnormal genitalia;Mental retardation, X-linked, ARX-related;Partington syndrome;Epileptic encephalopathy, early infantile, 1;Lissencephaly, X-linked 2 PE1 X +NX_Q96QS6 385 43027 9.65 0 NA NA PE2 8 +NX_Q96QT4 1865 212697 8.1 6 Nucleoplasm;Membrane Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 PE1 15 +NX_Q96QT6 1004 109698 7.94 0 Nucleoplasm;Nucleus NA PE1 17 +NX_Q96QU1 1955 216069 4.94 1 Cell membrane;Secreted Deafness, autosomal recessive, 23;Usher syndrome 1D/F;Usher syndrome 1F PE1 10 +NX_Q96QU4 278 30564 8.29 0 Nucleus NA PE2 10 +NX_Q96QU6 501 57324 6.01 0 Golgi apparatus NA PE1 11 +NX_Q96QU8 1125 128883 5.94 0 Cytosol;Nucleolus;Nucleus;Nucleus;Cytoplasm;Cell membrane NA PE1 16 +NX_Q96QV1 700 78851 8.24 0 Nucleoplasm;Cell membrane;Cytoplasm;Secreted NA PE1 4 +NX_Q96QV6 131 14234 10.86 0 Nucleus;Chromosome NA PE1 6 +NX_Q96QZ0 392 44683 8.48 4 Gap junction;Cell membrane NA PE2 11 +NX_Q96QZ7 1491 164581 7.3 0 Nucleoplasm;Cell junction;Tight junction;Cell membrane NA PE1 3 +NX_Q96R05 134 15536 7.67 0 Cytosol;Nucleus speckle;Cytoplasm NA PE1 1 +NX_Q96R06 1193 134422 4.93 0 Cytoplasmic granule;Centrosome;Midbody;Kinetochore;Spindle pole;Centriolar satellite;Cytoplasm;Cytoskeleton;Spindle NA PE1 17 +NX_Q96R08 314 35182 6.58 7 Cell membrane NA PE2 11 +NX_Q96R09 309 34568 8.58 7 Cell membrane NA PE2 11 +NX_Q96R27 311 35071 8.82 7 Cell membrane NA PE2 1 +NX_Q96R28 347 39177 7.07 7 Cell membrane NA PE3 1 +NX_Q96R30 315 35339 8.81 7 Cell membrane NA PE3 5 +NX_Q96R45 310 34742 8.96 7 Cell membrane NA PE2 7 +NX_Q96R47 310 34993 8.63 7 Cell membrane NA PE3 7 +NX_Q96R48 311 35207 9.44 7 Cell membrane NA PE2 7 +NX_Q96R54 314 34780 8.67 7 Cell membrane NA PE3 1 +NX_Q96R67 309 34491 8.67 7 Cell membrane NA PE2 11 +NX_Q96R69 305 34259 8.49 7 Cell membrane NA PE2 15 +NX_Q96R72 315 35408 8.69 7 Cell membrane NA PE3 14 +NX_Q96R84 312 34944 8.92 7 Cell membrane NA PE5 16 +NX_Q96RA2 312 34747 6.57 7 Cell membrane NA PE2 19 +NX_Q96RB7 305 34450 8.7 7 Cell membrane NA PE2 11 +NX_Q96RC9 309 34404 6.57 7 Cell membrane NA PE2 11 +NX_Q96RD0 313 35272 9.23 7 Cell membrane NA PE3 11 +NX_Q96RD1 312 35660 9.09 7 Cell membrane NA PE2 12 +NX_Q96RD2 323 36185 8.9 7 Cell membrane NA PE2 11 +NX_Q96RD3 313 35524 8.11 7 Cell membrane NA PE3 11 +NX_Q96RD6 677 74447 8.19 4 Cell membrane;Cell membrane;Gap junction NA PE2 22 +NX_Q96RD7 426 48050 5.75 4 Cell membrane;Cell membrane;Gap junction;Endoplasmic reticulum membrane NA PE1 11 +NX_Q96RD9 977 106437 6.7 1 Cell membrane NA PE1 1 +NX_Q96RE7 527 57258 5.52 0 Nucleus;Cytoplasm;Nucleoplasm Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination PE1 19 +NX_Q96RE9 604 68743 9 0 Nucleus;Nucleoplasm;Nucleolus NA PE1 5 +NX_Q96RF0 628 68894 5.44 0 Cytosol;Endomembrane system;Cytoplasmic vesicle membrane;Endosome membrane;Cell membrane NA PE1 5 +NX_Q96RG2 1323 142929 4.75 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q96RI0 385 41133 9.17 7 Cell membrane NA PE1 19 +NX_Q96RI1 486 55914 6.39 0 Nucleus;Nucleoplasm Cholestasis, progressive familial intrahepatic, 5 PE1 12 +NX_Q96RI8 345 38451 8.28 7 Cell membrane NA PE2 6 +NX_Q96RI9 348 39016 6.22 7 Cell membrane NA PE2 6 +NX_Q96RJ0 339 39092 8.99 7 Cell membrane NA PE2 6 +NX_Q96RJ3 184 18864 8.47 1 Membrane;Nucleus Immunodeficiency, common variable, 4 PE1 22 +NX_Q96RJ6 166 19017 5.11 0 Nucleus NA PE1 7 +NX_Q96RK0 1608 163820 8.74 0 Nucleus;Cytoplasmic vesicle;Nucleoplasm Mental retardation, autosomal dominant 45 PE1 19 +NX_Q96RK1 184 18569 5.38 0 Cytoplasm;Cytoplasmic vesicle;Nucleus NA PE1 1 +NX_Q96RK4 519 58282 6.9 0 Cytosol;Cytoplasm;Cilium;Flagellum;Centriolar satellite;Cilium membrane;Centrosome Bardet-Biedl syndrome 4 PE1 15 +NX_Q96RL1 719 79727 5.35 0 Nucleus;Nucleus NA PE1 5 +NX_Q96RL6 698 75795 7.28 1 Membrane NA PE1 19 +NX_Q96RL7 3174 360276 5.94 0 NA Choreoacanthocytosis PE1 9 +NX_Q96RM1 72 7805 8.73 0 Cytoplasm NA PE1 1 +NX_Q96RN1 970 109006 5.86 12 Membrane Spermatogenic failure 3 PE1 6 +NX_Q96RN5 788 86753 9.49 0 Nucleus;Cytoplasm;Nucleus NA PE1 22 +NX_Q96RP3 112 12146 11.58 0 Cytoplasmic vesicle;Secreted NA PE1 3 +NX_Q96RP7 486 54166 10.2 1 Golgi stack membrane;Nucleoplasm;Cytosol NA PE1 7 +NX_Q96RP8 456 50559 7.03 6 Membrane NA PE2 19 +NX_Q96RP9 751 83471 6.58 0 Nucleus;Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 1 PE1 3 +NX_Q96RQ1 377 42549 6.27 2 Cytoplasmic vesicle;Nucleus;Cytoplasm;Endoplasmic reticulum membrane;cis-Golgi network membrane;Nucleolus;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 12 +NX_Q96RQ3 725 80473 7.66 0 Mitochondrion matrix;Mitochondrion 3-methylcrotonoyl-CoA carboxylase 1 deficiency PE1 3 +NX_Q96RQ9 567 62881 8.79 0 Lysosome NA PE1 19 +NX_Q96RR1 684 77154 9.13 0 Mitochondrion nucleoid Perrault syndrome 5;Mitochondrial DNA depletion syndrome 7;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 PE1 10 +NX_Q96RR4 588 64746 6.25 0 Cell projection;Cytosol;Nucleus;Cytoplasm NA PE1 12 +NX_Q96RS0 853 96620 4.84 0 Cytoplasm;Nucleus;Cytosol;Cajal body;Nucleolus NA PE1 8 +NX_Q96RS6 583 66756 4.99 0 Cytoplasm;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA PE1 8 +NX_Q96RT1 1412 158298 5.32 0 Nucleus speckle;Hemidesmosome;Cell membrane;Nucleus membrane;Basolateral cell membrane NA PE1 5 +NX_Q96RT6 745 85282 5.85 1 Membrane NA PE1 18 +NX_Q96RT7 1819 200498 5.89 0 Centrosome Microcephaly and chorioretinopathy, autosomal recessive, 1 PE1 22 +NX_Q96RT8 1024 118321 5.58 0 Cytosol;Centrosome;Centrosome NA PE1 15 +NX_Q96RU2 1077 122491 5.1 0 Nucleoplasm;Nucleus;Nucleoplasm NA PE1 11 +NX_Q96RU3 617 71307 5.53 0 Cytoplasm;Cell membrane;Cytoplasmic vesicle;Clathrin-coated pit;Lysosome;Cell cortex;Cytoskeleton;Cytoplasm NA PE1 9 +NX_Q96RU7 358 39578 8.34 0 Nucleus NA PE1 20 +NX_Q96RU8 372 41009 6.86 0 Cell membrane NA PE1 8 +NX_Q96RV3 2341 258676 6.8 10 Membrane;Nucleoplasm NA PE1 14 +NX_Q96RW7 5635 613390 6.07 0 Basement membrane;Cleavage furrow;Cell junction;Cytoplasm Macular degeneration, age-related, 1 PE1 1 +NX_Q96RY5 1269 134718 8.08 0 Nucleus;Nucleus;Nucleolus;Cytosol NA PE1 16 +NX_Q96RY7 1462 165193 5.69 0 Cilium;Cilium basal body;Centrosome Short-rib thoracic dysplasia 9 with or without polydactyly PE1 16 +NX_Q96S06 567 64873 9.42 5 Endoplasmic reticulum membrane Combined lipase deficiency PE1 16 +NX_Q96S07 402 40998 11.09 0 NA NA PE4 16 +NX_Q96S15 920 101989 6.11 0 Cytoplasm;Lysosome membrane NA PE1 16 +NX_Q96S16 334 36870 9.74 0 NA NA PE1 16 +NX_Q96S19 204 22578 7.71 0 NA NA PE1 16 +NX_Q96S21 281 31304 9.34 0 Cell membrane NA PE1 16 +NX_Q96S37 553 59630 8.61 12 Cell membrane Hypouricemia renal 1 PE1 11 +NX_Q96S38 1066 118682 4.76 0 Nucleus;Cytoplasm;Cytosol;Cytoplasm;Membrane;Endosome;Lysosome NA PE1 1 +NX_Q96S42 347 39561 6.5 0 Secreted Heterotaxy, visceral, 5, autosomal PE1 10 +NX_Q96S44 253 28160 9.56 0 Nucleus NA PE1 20 +NX_Q96S52 555 61656 6.05 2 Endoplasmic reticulum membrane NA PE1 17 +NX_Q96S53 571 63639 6.63 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q96S55 665 72133 5.73 0 Nucleus;Nucleoplasm NA PE1 6 +NX_Q96S59 729 77847 6.31 0 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Cell membrane NA PE1 6 +NX_Q96S65 589 63508 4.61 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA PE1 3 +NX_Q96S66 551 62023 5.36 3 Endoplasmic reticulum;Membrane;Endoplasmic reticulum;Golgi apparatus;Nucleus NA PE1 1 +NX_Q96S79 203 23229 9.55 0 Cell membrane;Cytoplasmic vesicle NA PE2 17 +NX_Q96S82 380 40510 4.88 0 Cytosol;Nucleoplasm NA PE1 15 +NX_Q96S86 360 40894 6.07 0 Cell membrane;Cytosol;Extracellular matrix NA PE1 15 +NX_Q96S90 227 25003 8.59 0 Nucleus NA PE1 1 +NX_Q96S94 520 58147 10.27 0 Nucleus speckle;Nucleoplasm;Nucleoplasm NA PE1 1 +NX_Q96S95 79 8658 5.32 0 Centrosome;Nucleus;Nucleus;Cytosol NA PE2 3 +NX_Q96S96 227 25733 6.08 0 Lysosome NA PE1 8 +NX_Q96S97 322 35274 8.53 8 Nucleus speckle;Membrane NA PE1 19 +NX_Q96S99 279 31195 8.59 0 Nucleus;Perinuclear region;Lysosome NA PE1 19 +NX_Q96SA4 455 50742 5.81 11 Membrane NA PE1 1 +NX_Q96SB3 815 89192 4.91 0 Lamellipodium;Synapse;Cytoplasm;Filopodium;Ruffle membrane;Cell membrane;Cytoskeleton;Nucleus;Dendritic spine;Adherens junction NA PE1 17 +NX_Q96SB4 655 74325 5.81 0 Cytoplasm;Nucleus;Cell membrane;Cytosol;Cytoplasm;Nucleus;Nucleus matrix;Microsome;Nucleus NA PE1 6 +NX_Q96SB8 1091 126326 6.57 0 Nucleus;Cytoplasm;Nucleoplasm;Telomere;PML body;Chromosome;Nucleus speckle;Nucleus NA PE1 2 +NX_Q96SC8 542 53356 8.05 0 Mitochondrion;Nucleus NA PE2 1 +NX_Q96SD1 692 78436 5.69 0 Nucleoplasm;Golgi apparatus;Nucleus Omenn syndrome;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation;Severe combined immunodeficiency Athabaskan type PE1 10 +NX_Q96SE0 405 45207 5.8 1 Membrane NA PE1 2 +NX_Q96SE7 839 95770 9.34 0 Nucleus;Cytoskeleton NA PE1 19 +NX_Q96SF2 557 59388 5.49 0 Cytoplasm NA PE1 22 +NX_Q96SF7 602 65757 7.05 0 Nucleoplasm;Centrosome;Nucleus Cousin syndrome PE1 1 +NX_Q96SI1 283 31942 7.05 0 Golgi apparatus;Nucleoplasm NA PE1 19 +NX_Q96SI9 672 73653 8.91 0 Nucleus;Cytoplasm NA PE1 9 +NX_Q96SJ8 248 27710 4.9 4 Membrane NA PE1 11 +NX_Q96SK2 561 62922 8.8 2 Cytoplasmic vesicle;Nucleus membrane;Nucleus speckle;Membrane NA PE1 7 +NX_Q96SK3 696 80507 8.93 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q96SL1 478 52088 8.85 12 Cytoplasmic vesicle;Lysosome membrane NA PE1 3 +NX_Q96SL4 187 20996 8.42 0 Nucleolus;Secreted Barrett esophagus PE1 1 +NX_Q96SL8 496 51996 8.59 0 Nucleus;Cytoplasm;Nucleus NA PE1 19 +NX_Q96SM3 734 81668 6.19 0 Secreted NA PE1 20 +NX_Q96SN7 254 28570 8.7 4 Membrane;Nucleus NA PE1 7 +NX_Q96SN8 1893 215038 5.44 0 Centrosome;Golgi apparatus;Cytoplasm;Centrosome;Cell junction Microcephaly 3, primary, autosomal recessive PE1 9 +NX_Q96SQ5 575 65622 9.2 0 Nucleus NA PE1 19 +NX_Q96SQ7 321 34644 10.24 0 Nucleus;Nucleus speckle;Cytoplasm;Nucleoplasm NA PE2 2 +NX_Q96SQ9 504 55817 8.8 0 Endoplasmic reticulum;Endoplasmic reticulum membrane;Microsome membrane NA PE1 19 +NX_Q96SR6 550 64010 9.42 0 Nucleus speckle;Nucleus NA PE1 19 +NX_Q96ST2 819 91955 4.58 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q96ST3 1273 145175 6.82 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 15 +NX_Q96ST8 783 89590 6.36 0 Cytosol;Centrosome;Cytosol;Cell membrane;Mitochondrion intermembrane space;Centriole;Spindle pole NA PE1 19 +NX_Q96SU4 736 83185 5.77 0 Cytoplasm;Cytoplasmic vesicle;Golgi apparatus;Late endosome membrane;trans-Golgi network membrane NA PE1 1 +NX_Q96SW2 442 50546 5.41 0 Cytoplasm;Nucleus;Nucleolus;Membrane Mental retardation, autosomal recessive 2A PE1 3 +NX_Q96SY0 518 57471 4.99 0 Cytoplasm;Mitochondrion;Nucleus membrane;Nucleus;Nucleoplasm;Nucleus NA PE1 15 +NX_Q96SZ4 725 80387 9.17 0 Nucleus NA PE1 16 +NX_Q96SZ5 270 29751 5.68 0 NA NA PE1 10 +NX_Q96SZ6 601 67689 8.52 0 Nucleus speckle;Mitochondrion NA PE1 20 +NX_Q96T17 732 81965 8.95 0 Cytosol;Nucleoplasm NA PE1 X +NX_Q96T21 854 95462 8.31 0 Mitochondrion;Nucleus;Nucleoplasm;Mitochondrion Abnormal thyroid hormone metabolism PE1 9 +NX_Q96T23 1441 163821 4.94 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q96T25 663 68448 9.01 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA PE1 13 +NX_Q96T37 977 107189 10.09 0 Nucleoplasm;Nucleus;Nucleus membrane;Nucleus speckle;Nucleoplasm NA PE1 1 +NX_Q96T49 567 63551 6.06 0 Cell membrane;Cell projection;Cell membrane;Nucleus speckle;Cell membrane;Nucleus NA PE1 20 +NX_Q96T51 708 79818 5.54 0 Cytoplasmic vesicle;Nucleus;Early endosome membrane;Cytosol;Cytoplasm NA PE1 5 +NX_Q96T52 175 19718 9.43 1 Mitochondrion inner membrane;Mitochondrion Gilles de la Tourette syndrome PE1 7 +NX_Q96T53 435 49716 8.82 7 Golgi apparatus;Endoplasmic reticulum membrane NA PE1 8 +NX_Q96T54 332 36895 8.61 4 Membrane NA PE2 6 +NX_Q96T55 309 34153 8.94 4 Membrane NA PE1 6 +NX_Q96T58 3664 402248 7.35 0 Nucleus;Nucleoplasm NA PE1 1 +NX_Q96T59 188 20651 8.31 0 Cell junction NA PE1 17 +NX_Q96T60 521 57076 8.73 0 Nucleus;Nucleolus;Nucleus Microcephaly, seizures, and developmental delay;Ataxia-oculomotor apraxia 4 PE1 19 +NX_Q96T66 252 28322 9.28 0 Mitochondrion;Mitochondrion NA PE1 3 +NX_Q96T68 719 81894 7.62 0 Nucleus;Chromosome;Nucleoplasm NA PE1 13 +NX_Q96T75 97 10969 8.71 0 NA NA PE1 21 +NX_Q96T76 1030 113290 5.92 0 Nucleus;Nucleoplasm;Spindle NA PE1 10 +NX_Q96T83 725 80131 5.97 13 Recycling endosome membrane;trans-Golgi network membrane;Cytoplasmic vesicle NA PE1 X +NX_Q96T88 793 89814 7.66 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q96T91 129 14163 8.58 0 Secreted NA PE1 11 +NX_Q96T92 566 59491 9.46 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 14 +NX_Q96TA0 734 80449 4.84 1 Cell membrane NA PE5 5 +NX_Q96TA1 746 84138 5.82 0 Nucleoplasm;Cytosol;Cell membrane;Cytosol;Adherens junction;Membrane NA PE1 9 +NX_Q96TA2 773 86455 8.86 1 Nucleus;Mitochondrion;Mitochondrion inner membrane;Mitochondrion Optic atrophy 11 PE1 10 +NX_Q96TC7 470 52118 5.02 1 Mitochondrion;Mitochondrion membrane;Mitochondrion outer membrane;Cytoplasm;Nucleus;Spindle;Spindle pole NA PE1 15 +NX_Q99062 836 92156 5.76 1 Secreted;Cell membrane Neutropenia, severe congenital 7, autosomal recessive;Hereditary neutrophilia PE1 1 +NX_Q99075 208 23067 9.47 1 Extracellular space;Cell membrane NA PE1 5 +NX_Q99081 682 72965 6.52 0 Nucleus;Nucleoplasm;Nucleus;Nucleus speckle Craniosynostosis 3 PE1 15 +NX_Q99102 2169 231518 5.85 1 Cell membrane;Membrane;Secreted;Secreted;Cell membrane NA PE1 3 +NX_Q99217 191 21603 6.51 0 Extracellular matrix Amelogenesis imperfecta 1E PE1 X +NX_Q99218 206 23250 6.92 0 Extracellular matrix NA PE2 Y +NX_Q99250 2005 227975 5.56 24 Cell membrane Epileptic encephalopathy, early infantile, 11;Seizures, benign familial infantile, 3 PE1 2 +NX_Q99259 594 66897 7.54 0 Cytoplasmic vesicle Cerebral palsy, spastic quadriplegic 1 PE1 2 +NX_Q99417 103 11967 5.71 0 Cytoplasm;Nucleus;Mitochondrion;Cytosol;Mitochondrion NA PE1 1 +NX_Q99418 400 46546 5.43 0 Golgi apparatus;Cell membrane;Cytosol;Growth cone;Tight junction;Cell membrane;Cell projection;Adherens junction;Cytoplasm NA PE1 19 +NX_Q99424 681 76827 7.32 0 Mitochondrion;Cytoplasmic vesicle;Peroxisome Congenital bile acid synthesis defect 6 PE1 3 +NX_Q99426 244 27326 5.06 0 Cytoplasm;Cell membrane;Cytoplasm;Cytosol;Cytoskeleton NA PE1 19 +NX_Q99435 816 91346 5.44 0 Secreted;Cytoplasmic vesicle NA PE1 12 +NX_Q99436 277 29965 7.58 0 Cytoplasm;Nucleus;Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 9 +NX_Q99437 205 21406 7.61 5 Cytosol;Vacuole membrane NA PE1 1 +NX_Q99439 309 33697 6.94 0 Cytosol;Nucleoplasm;Cytoskeleton NA PE1 19 +NX_Q99440 93 10499 8.85 0 NA NA PE2 4 +NX_Q99442 399 45862 6.67 2 Endoplasmic reticulum;Endoplasmic reticulum;Cytoskeleton;Endoplasmic reticulum membrane NA PE1 3 +NX_Q99445 158 17730 6.1 0 Cell membrane NA PE2 8 +NX_Q99447 389 43835 6.44 0 Cytoskeleton;Centrosome NA PE1 17 +NX_Q99453 314 31621 9.02 0 Nucleus;Nucleoplasm Congenital central hypoventilation syndrome;Neuroblastoma 2 PE1 4 +NX_Q99456 494 53511 4.71 0 NA Corneal dystrophy, Meesmann PE1 17 +NX_Q99457 506 57593 5.01 0 Nucleus;Cytoplasmic vesicle NA PE1 X +NX_Q99459 802 92251 8.22 0 Nucleus;Nucleoplasm;Nucleus speckle;Cytoplasm NA PE1 6 +NX_Q99460 953 105836 5.25 0 Cytoskeleton;Nucleoplasm NA PE1 2 +NX_Q99463 290 33180 9.26 6 Membrane NA PE5 5 +NX_Q99466 2003 209622 5.43 1 Cell membrane;Nucleus NA PE1 6 +NX_Q99467 661 74179 5.96 1 Cell membrane NA PE1 5 +NX_Q99469 402 44554 8.74 0 Nucleoplasm;Cytoplasm;Cell membrane NA PE1 3 +NX_Q99470 211 23026 6.83 0 Secreted;Cytoplasmic vesicle NA PE1 17 +NX_Q99471 154 17328 5.94 0 Cytoplasm;Nucleus;Nucleus;Cytoplasm NA PE1 12 +NX_Q99487 392 44036 6.43 0 Cytoplasm NA PE1 1 +NX_Q99489 341 37535 8.07 0 Peroxisome;Cytosol NA PE1 6 +NX_Q99490 1192 124674 9.91 0 Nucleus;Cytoplasm;Mitochondrion;Nucleolus;Nucleus NA PE1 12 +NX_Q99496 336 37655 6.38 0 Nucleus;Nucleus;Chromosome;Nucleoplasm NA PE1 1 +NX_Q99497 189 19891 6.33 0 Nucleus;Cytosol;Mitochondrion;Cell membrane;Cytoplasm;Nucleus;Membrane raft Parkinson disease 7 PE1 1 +NX_Q99500 378 42250 9.78 7 Cell membrane NA PE1 9 +NX_Q99501 681 72717 10.1 0 Cytoskeleton;Cell junction;Cell membrane NA PE1 22 +NX_Q99502 592 64593 5.79 0 Nucleus;Nucleoplasm;Cytoplasm;Nucleus Otofaciocervical syndrome 1;Anterior segment anomalies with or without cataract;Branchiootorenal syndrome 1;Branchiootic syndrome 1 PE1 8 +NX_Q99504 573 62663 5.06 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q99518 471 53644 6.8 0 Microsome membrane;Endoplasmic reticulum membrane NA PE1 1 +NX_Q99519 415 45467 5.59 0 Lysosome membrane;Cell membrane;Lysosome lumen;Cytoplasmic vesicle;Cytoplasmic vesicle;Cell junction;Lysosome Sialidosis PE1 6 +NX_Q99523 831 92068 5.46 1 Membrane;Endoplasmic reticulum membrane;Golgi apparatus;Endosome membrane;Golgi stack membrane;Nucleus membrane;Cell membrane;Lysosome membrane;Cell membrane;Cytosol NA PE1 1 +NX_Q99525 98 11009 11.06 0 Nucleus;Chromosome NA PE1 6 +NX_Q99527 375 42248 8.63 7 Nucleus;Golgi apparatus membrane;Recycling endosome;Cytoplasm;Perinuclear region;Cytoskeleton;Cell membrane;Basolateral cell membrane;Cytoplasmic vesicle membrane;Early endosome;Axon;Postsynaptic density;Mitochondrion membrane;trans-Golgi network;Endoplasmic reticulum membrane;Dendrite;Dendritic spine membrane NA PE1 7 +NX_Q99536 393 41920 5.88 0 Cytoplasm;Mitochondrion outer membrane NA PE1 17 +NX_Q99538 433 49411 6.07 0 Cytosol;Lysosome NA PE1 14 +NX_Q99541 437 48075 6.34 0 Lipid droplet;Lipid droplet;Membrane NA PE1 9 +NX_Q99542 508 57357 7.22 0 Endoplasmic reticulum;Cytoplasmic vesicle;Extracellular matrix Cavitary optic disc anomalies PE1 12 +NX_Q99543 621 71996 8.85 0 Nucleus;Cytosol;Cytosol NA PE1 7 +NX_Q99547 160 19024 5.15 0 Nucleolus;Cytoplasm;Nucleus;Nucleolus NA PE1 16 +NX_Q99549 860 97182 5.81 0 Cytosol;Cell membrane;Nucleus;Chromosome;Nucleus NA PE1 13 +NX_Q99550 1183 133024 5.87 0 Centriole;Cell membrane;Nucleus;Cytosol;Golgi apparatus membrane NA PE1 12 +NX_Q99551 399 45778 9.49 0 Mitochondrion;Mitochondrion NA PE1 7 +NX_Q99558 947 104042 7.77 0 Cytosol;Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus NA PE1 17 +NX_Q99567 741 83542 5.47 0 Nucleoplasm;Nuclear pore complex NA PE1 17 +NX_Q99569 1192 131868 9.07 0 Cell junction;Spindle;Midbody;Cell membrane;Cell membrane;Desmosome NA PE1 2 +NX_Q99570 1358 153103 6.74 0 Late endosome;Autophagosome;Membrane;Cytoplasmic vesicle;Cytoskeleton NA PE1 3 +NX_Q99571 388 43369 8.29 2 Cytoskeleton;Cytosol;Membrane NA PE1 12 +NX_Q99572 595 68585 8.57 2 Cell membrane NA PE1 12 +NX_Q99574 410 46427 4.84 0 Cytosol;Secreted;Secretory vesicle lumen;Perikaryon Encephalopathy, familial, with neuroserpin inclusion bodies PE1 3 +NX_Q99575 1024 114709 9.36 0 Nucleolus;Nucleolus Anauxetic dysplasia 2 PE1 8 +NX_Q99576 134 14810 4.51 0 Cytoplasm;Cytosol;Nucleus;Cytoplasm;Nucleus speckle;Golgi apparatus NA PE1 X +NX_Q99578 217 24668 6.14 0 Nucleus;Cell membrane NA PE1 18 +NX_Q99581 238 25030 9.28 0 Nucleus;Nucleus speckle Sudden infant death syndrome PE1 2 +NX_Q99583 582 62300 8.79 0 Nucleus;Nucleoplasm NA PE1 17 +NX_Q99584 98 11471 5.9 0 Nucleus;Cytosol;Cytoplasm;Secreted;Nucleolus;Cell membrane NA PE1 1 +NX_Q99590 1463 164652 8.69 0 Nucleus;Nucleus;Nucleoplasm NA PE1 12 +NX_Q99592 522 58354 5.41 0 Nucleoplasm;Cytoskeleton;Cytoskeleton;Nucleus Mental retardation, autosomal dominant 22 PE1 1 +NX_Q99593 518 57711 7.14 0 Nucleoplasm;Nucleus Holt-Oram syndrome PE1 12 +NX_Q99594 435 48676 8.49 0 Nucleus NA PE1 6 +NX_Q99595 171 18024 7.72 3 Mitochondrion inner membrane;Nucleoplasm;Mitochondrion NA PE1 1 +NX_Q99598 290 33112 6.1 0 Perinuclear region;Nucleoplasm;Golgi apparatus;Nucleus;Cytosol NA PE1 1 +NX_Q99607 663 70730 5.41 0 Nucleoplasm;PML body;Nucleus NA PE1 X +NX_Q99608 321 36086 8.81 0 Nucleoplasm;Cytosol;Perikaryon;Nucleus NA PE1 15 +NX_Q99611 448 47305 5.63 0 Nucleoplasm NA PE1 16 +NX_Q99612 283 31865 6.46 0 Nucleus;Cytosol;Cytoplasmic vesicle;Nucleus;Nucleolus Prostate cancer;Gastric cancer PE1 10 +NX_Q99613 913 105344 5.48 0 Cytoplasm NA PE1 16 +NX_Q99614 292 33526 4.78 0 Cytoplasm;Cytosol NA PE1 5 +NX_Q99615 494 56441 6.56 0 Nucleus;Cytoplasm;Cytosol;Cytoplasm;Nucleus;Cytoskeleton;Nucleoplasm NA PE1 17 +NX_Q99616 98 10986 9.94 0 Secreted NA PE1 17 +NX_Q99618 268 28998 6.02 0 Cytosol;Cytosol NA PE1 12 +NX_Q99619 263 28630 8.32 0 Cytoplasm NA PE1 12 +NX_Q99622 126 13178 5.04 0 Cytoplasm;Nucleus speckle Temtamy syndrome PE1 12 +NX_Q99623 299 33296 9.83 0 Cytoplasm;Mitochondrion inner membrane;Cytoplasm;Nucleus;Mitochondrion NA PE1 12 +NX_Q99624 504 55773 8.03 10 Cell membrane;Cytosol;Cytoskeleton;Cell membrane NA PE1 3 +NX_Q99626 313 33520 9.65 0 Nucleus;Nucleoplasm NA PE1 13 +NX_Q99627 209 23226 5.25 0 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 2 +NX_Q99633 342 39860 8.19 0 Nucleus speckle;Cytosol;Nucleus speckle NA PE1 10 +NX_Q99638 391 42547 5.41 0 Nucleus;Nucleoplasm NA PE1 11 +NX_Q99640 499 54521 6.48 0 Endoplasmic reticulum membrane;Golgi apparatus;Golgi apparatus membrane;Nucleus;Nucleolus NA PE1 16 +NX_Q99643 169 18610 9.74 3 Mitochondrion inner membrane Paragangliomas 3;Paraganglioma and gastric stromal sarcoma PE1 1 +NX_Q99645 322 36637 4.67 0 Extracellular matrix NA PE1 12 +NX_Q99650 979 110509 5.54 1 Nucleolus;Membrane Amyloidosis, primary localized cutaneous, 1 PE1 5 +NX_Q99653 195 22456 4.98 0 Nucleus;Cytoplasmic vesicle;Cytoskeleton;Endomembrane system;Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum;Cytoplasm;Cell membrane;Membrane NA PE1 15 +NX_Q99661 725 81313 8.03 0 Cytoskeleton;Nucleoplasm;Centrosome;Centromere;Nucleus;Cytoskeleton;Kinetochore NA PE1 1 +NX_Q99665 862 97135 7.91 1 Membrane;Cell membrane;Cytosol NA PE1 1 +NX_Q99666 1765 198924 6.03 0 Nucleus envelope;Cytoplasm NA PE1 2 +NX_Q99674 301 31905 4.35 0 Secreted NA PE1 2 +NX_Q99675 332 38242 5.05 0 Cytoplasmic vesicle;Endoplasmic reticulum;Nucleus;Nucleoplasm NA PE1 14 +NX_Q99676 751 86174 8.41 0 Nucleus;Cytosol;Nucleus NA PE1 6 +NX_Q99677 370 41895 9.28 7 Cell membrane NA PE1 X +NX_Q99678 358 38650 9.36 7 Cell membrane NA PE1 8 +NX_Q99679 349 39515 7.87 7 Cell membrane NA PE2 9 +NX_Q99680 433 49265 9.43 7 Cell membrane NA PE2 7 +NX_Q99683 1374 154537 5.52 0 Endoplasmic reticulum;Cytoplasm;Cytosol NA PE1 6 +NX_Q99684 422 45297 9.24 0 Nucleus Dominant nonimmune chronic idiopathic neutropenia of adults;Neutropenia, severe congenital 2, autosomal dominant PE1 1 +NX_Q99685 303 33261 6.49 0 Cytosol;Nucleoplasm;Membrane NA PE1 3 +NX_Q99687 375 41115 5 0 Nucleus NA PE2 19 +NX_Q99689 392 45119 4.24 0 Centrosome;Cell membrane;Cytoskeleton;Cytosol NA PE1 11 +NX_Q99697 317 35370 9.53 0 Nucleus;Nucleus Anterior segment dysgenesis 4;Axenfeld-Rieger syndrome 1;Ring dermoid of cornea PE1 4 +NX_Q99698 3801 429139 6.15 0 Nucleoplasm;Cytoplasm Chediak-Higashi syndrome PE1 1 +NX_Q99700 1313 140283 9.6 0 Cytosol;Cytoplasm Amyotrophic lateral sclerosis 13;Spinocerebellar ataxia 2 PE1 12 +NX_Q99704 481 52392 6.05 0 Cytoplasm;Nucleus;Cytosol;Perinuclear region NA PE1 2 +NX_Q99705 422 45963 9.23 7 Cell membrane NA PE1 22 +NX_Q99706 377 41487 7.29 1 Cell membrane NA PE1 19 +NX_Q99707 1265 140527 5.39 0 Cytoplasm;Cytosol Homocystinuria-megaloblastic anemia, cblG complementation type;Neural tube defects, folate-sensitive PE1 1 +NX_Q99708 897 101942 5.92 0 Nucleus;Chromosome;Nucleoplasm Jawad syndrome;Seckel syndrome 2 PE1 18 +NX_Q99712 375 42577 7.6 2 Membrane;Cytoplasmic vesicle;Cell membrane;Cytosol NA PE1 21 +NX_Q99714 261 26923 7.65 0 Mitochondrion Mental retardation, X-linked 17;HDS10 mitochondrial disease PE1 X +NX_Q99715 3063 333147 5.38 0 Nucleus;Extracellular matrix Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 PE1 6 +NX_Q99717 465 52258 7.63 0 Nucleus;Cytoplasm;Nucleoplasm;Cytosol NA PE1 5 +NX_Q99719 369 42777 6.21 0 Cytoskeleton;Cytosol;Cytoskeleton;Nucleoplasm;Cytoplasm NA PE1 22 +NX_Q99720 223 25128 5.61 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cell junction;Cell membrane;Postsynaptic density;Growth cone;Nucleus inner membrane;Nucleus outer membrane;Nucleus envelope;Membrane;Lipid droplet Distal spinal muscular atrophy, autosomal recessive, 2;Amyotrophic lateral sclerosis 16, juvenile PE1 9 +NX_Q99726 388 41945 6 6 Nucleus;Nucleolus;Synaptic vesicle membrane;Synaptosome;Late endosome membrane;Lysosome membrane;Synaptic vesicle;Cytoplasmic vesicle;Cytosol NA PE1 2 +NX_Q99727 224 25503 7.95 0 Secreted NA PE1 3 +NX_Q99728 777 86648 8.99 0 Nucleus;Cytoplasm;Nucleus;Nucleus speckle NA PE1 2 +NX_Q99729 332 36225 8.21 0 Nucleus;Nucleus;Cytoplasm;Nucleoplasm NA PE1 5 +NX_Q99731 98 10993 9.84 0 Secreted NA PE1 9 +NX_Q99732 161 17107 5.99 0 Cytosol;Cytoplasm;Early endosome membrane;Lysosome membrane;Nucleus;Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus membrane;Cell membrane;Endosome membrane;Late endosome membrane Charcot-Marie-Tooth disease 1C PE1 16 +NX_Q99733 375 42823 4.6 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 11 +NX_Q99735 147 16621 9.6 3 Nucleoplasm;Endoplasmic reticulum membrane;Microsome membrane NA PE1 4 +NX_Q99741 560 62720 9.64 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleoplasm Meier-Gorlin syndrome 5 PE1 17 +NX_Q99742 590 62702 8.61 0 Nucleoplasm;Nucleus NA PE2 19 +NX_Q99743 824 91791 6.35 0 Nucleus;Nucleoplasm NA PE1 2 +NX_Q99747 312 34746 5.3 0 Membrane;Cytosol;Cell membrane NA PE1 18 +NX_Q99748 197 22405 10.92 0 Golgi apparatus;Secreted NA PE1 19 +NX_Q99750 246 25029 4.29 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 6 +NX_Q99755 562 62633 8.41 0 Nucleus speckle;Ruffle;Cell membrane;Cytoplasm NA PE1 1 +NX_Q99757 166 18383 8.46 0 Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 29 PE1 22 +NX_Q99758 1704 191362 7.55 14 Nucleoplasm;Cytosol;Membrane Pulmonary surfactant metabolism dysfunction 3 PE1 16 +NX_Q99759 626 70898 8.98 0 Cytoplasm;Nucleoplasm NA PE1 17 +NX_Q99766 215 24866 7.51 0 Mitochondrion;Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA PE1 14 +NX_Q99767 749 82512 4.77 0 Nucleoplasm;Golgi apparatus;Cell membrane;Cytoplasmic vesicle NA PE1 15 +NX_Q99784 485 55343 6.48 0 Cytosol;Perikaryon;Nucleus;Nucleolus;Secreted;Synapse;Endoplasmic reticulum;Axon NA PE1 9 +NX_Q99788 373 42322 8.71 7 Cell membrane NA PE1 12 +NX_Q99795 319 35632 4.85 1 Membrane NA PE1 1 +NX_Q99797 713 80641 6.6 0 Mitochondrion;Mitochondrion matrix Combined oxidative phosphorylation deficiency 31 PE1 13 +NX_Q99798 780 85425 7.36 0 Mitochondrion;Mitochondrion Infantile cerebellar-retinal degeneration;Optic atrophy 9 PE1 22 +NX_Q99801 234 26350 9.23 0 Nucleus NA PE1 8 +NX_Q99805 663 75776 7.22 9 Cytoplasm;Cell membrane;Endosome membrane NA PE1 13 +NX_Q99807 217 24277 8.77 0 Mitochondrion;Cell membrane;Nucleoplasm;Mitochondrion inner membrane Coenzyme Q10 deficiency, primary, 8 PE1 16 +NX_Q99808 456 50219 8.62 11 Apical cell membrane;Cell membrane;Basolateral cell membrane NA PE1 6 +NX_Q99811 253 27079 10.15 0 Nucleoplasm;Nucleus;Nucleus NA PE1 9 +NX_Q99814 870 96459 5.87 0 Nucleus speckle;Nucleoplasm;Nucleus;Cytosol Erythrocytosis, familial, 4 PE1 2 +NX_Q99816 390 43944 6.06 0 Cytosol;Cytoplasm;Cell membrane;Nucleus;Midbody ring;Centrosome;Late endosome membrane;Early endosome membrane;Nucleolus NA PE1 11 +NX_Q99819 225 25098 5.45 0 Cytoplasm NA PE1 16 +NX_Q99828 191 21703 4.65 0 Lamellipodium;trans-Golgi network;Membrane;Growth cone;Perinuclear region;Cell membrane;Nucleoplasm;Nucleus;Sarcolemma;Cell membrane;Apical cell membrane;Ruffle membrane;Filopodium tip;Cytoplasm;Cytoskeleton;Centrosome NA PE1 15 +NX_Q99829 537 59059 5.52 0 Nucleoplasm;Cell membrane;Nucleus membrane;Nucleus;Cytoplasm NA PE1 20 +NX_Q99832 543 59367 7.55 0 Cytoplasm;Cytoplasm;Cytosol NA PE1 2 +NX_Q99835 787 86397 8.71 7 Membrane;Cilium Curry-Jones syndrome PE1 7 +NX_Q99836 296 33233 5.89 0 Mitochondrion;Cytoplasm;Cytosol;Cytoplasmic vesicle MYD88 deficiency PE1 3 +NX_Q99848 306 34852 10.1 0 Nucleolus;Nucleolus NA PE1 1 +NX_Q99853 325 34978 9.66 0 Mitochondrion;Nucleoplasm;Nucleus NA PE1 15 +NX_Q99856 593 62889 4.84 0 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoplasm NA PE1 19 +NX_Q99865 258 29188 6.72 0 NA NA PE1 X +NX_Q99871 368 40778 4.73 0 Nucleus;Cytoplasm;Cytosol;Centrosome;Spindle;Centrosome;Cell membrane;Nucleolus NA PE1 X +NX_Q99873 361 41516 5.24 0 Nucleus;Cytoplasm;Nucleus;Nucleoplasm;Nucleoplasm;Cytosol NA PE1 19 +NX_Q99877 126 13922 10.31 0 Nucleus;Chromosome NA PE1 6 +NX_Q99878 128 13936 10.88 0 Chromosome;Nucleus NA PE1 6 +NX_Q99879 126 13989 10.31 0 Chromosome;Nucleus NA PE1 6 +NX_Q99880 126 13952 10.31 0 Nucleus;Chromosome NA PE1 6 +NX_Q99884 636 70911 6.22 12 Cell membrane;Cytoplasm;Membrane NA PE1 5 +NX_Q99895 268 29484 7.54 0 NA Pancreatitis, hereditary PE1 1 +NX_Q99909 188 21697 8.82 0 NA NA PE1 X +NX_Q99928 467 54289 7.46 4 Postsynaptic cell membrane;Cell membrane NA PE2 15 +NX_Q99929 193 20185 11.18 0 Nucleus NA PE1 11 +NX_Q99932 426 44819 5.31 0 Acrosome;Microtubule organizing center;Cytoplasm;Nucleus;Spindle NA PE1 9 +NX_Q99933 345 38779 7.68 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 9 +NX_Q99935 248 27217 10.42 0 Secreted NA PE1 4 +NX_Q99941 703 76709 5.9 1 Nucleus;Endoplasmic reticulum membrane;Nucleus;Nucleolus NA PE1 6 +NX_Q99942 180 19881 6.2 2 Mitochondrion membrane;Endoplasmic reticulum membrane;Membrane;Endoplasmic reticulum NA PE1 6 +NX_Q99943 283 31717 9.48 3 Endoplasmic reticulum;Endoplasmic reticulum membrane;Cytoplasm NA PE1 6 +NX_Q99944 293 32262 6.37 0 Secreted;Nucleus speckle;Cytoplasmic vesicle NA PE1 6 +NX_Q99946 306 31430 7.26 2 Cell membrane;Synapse NA PE1 6 +NX_Q99952 460 50482 8.57 0 Nucleus;Cytoplasm NA PE1 2 +NX_Q99954 134 14048 9.62 0 Secreted NA PE1 4 +NX_Q99956 384 41868 5.8 0 Cytoplasm;Endoplasmic reticulum NA PE1 X +NX_Q99958 501 53719 8.68 0 Nucleus;Nucleoplasm;Nucleus Lymphedema-distichiasis PE1 16 +NX_Q99959 881 97415 9.39 0 Nucleoplasm;Cell junction;Nucleus;Desmosome Arrhythmogenic right ventricular dysplasia, familial, 9 PE1 12 +NX_Q99961 368 41490 5.31 0 Cytosol;Cytoplasm;Early endosome membrane;Podosome NA PE1 19 +NX_Q99962 352 39962 5.32 0 Cytoskeleton;Cytoplasm;Membrane;Cytoskeleton;Early endosome NA PE1 9 +NX_Q99963 347 39285 5.27 0 Cytosol;Cytoplasm;Early endosome membrane NA PE1 15 +NX_Q99965 735 82457 5.77 1 Membrane NA PE1 8 +NX_Q99966 193 19896 4.63 0 Nucleoplasm;Nucleus;Cytosol;Cytoplasm NA PE1 X +NX_Q99967 270 28497 6.42 0 Nucleoplasm;Nucleus Atrial septal defect 8;Ventricular septal defect 2 PE1 6 +NX_Q99969 163 18618 9.3 0 Cytosol;Secreted NA PE1 7 +NX_Q99972 504 56972 5.44 0 Mitochondrion intermembrane space;Mitochondrion inner membrane;Secreted;Secreted;Golgi apparatus;Cytoplasmic vesicle;Extracellular space;Extracellular matrix;Rough endoplasmic reticulum;Mitochondrion outer membrane;Endoplasmic reticulum;Exosome;Mitochondrion;Cell projection;Cilium Glaucoma 1, open angle, A;Glaucoma 3, primary congenital, A PE1 1 +NX_Q99973 2627 290490 8.26 0 Cytoplasmic vesicle;Nucleus;Nucleoplasm;Telomere NA PE1 14 +NX_Q99983 421 49492 5.34 0 Extracellular matrix NA PE1 9 +NX_Q99985 751 85207 8.96 0 Cytosol;Cell membrane;Golgi apparatus;Secreted NA PE1 7 +NX_Q99986 396 45476 9.02 0 Spindle;Cytoplasm;Nucleus;Cytosol;Nucleus Pontocerebellar hypoplasia 1A PE1 14 +NX_Q99988 308 34140 9.79 0 Secreted;Golgi apparatus NA PE1 19 +NX_Q99990 258 28707 9.26 0 Nucleus;Nucleus NA PE1 X +NX_Q99996 3911 453667 4.95 0 Golgi apparatus;Cytoplasmic vesicle;Centrosome;Golgi apparatus;Cytoplasm;Centrosome Long QT syndrome 11 PE1 7 +NX_Q99999 423 48764 8.84 1 Golgi apparatus membrane;Cytoplasmic vesicle NA PE1 22 +NX_Q9BPU6 564 61421 6.73 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 2 +NX_Q9BPU9 175 19261 7.14 0 Cilium axoneme;Cilium basal body;Nucleus Meckel syndrome 10 PE1 19 +NX_Q9BPV8 354 40789 9.94 7 Cell membrane NA PE1 3 +NX_Q9BPW4 351 39164 7.78 0 Cytoplasmic vesicle;Secreted NA PE1 22 +NX_Q9BPW5 248 27508 9.28 0 Nucleus NA PE2 4 +NX_Q9BPW8 284 33310 9.35 0 NA NA PE1 22 +NX_Q9BPW9 319 35227 8.78 0 Microsome membrane;Endoplasmic reticulum membrane NA PE1 2 +NX_Q9BPX1 270 28317 5.8 0 Cytoplasm NA PE1 19 +NX_Q9BPX3 1015 114334 5.44 0 Nucleus;Cytoplasm;Chromosome NA PE1 4 +NX_Q9BPX5 153 16941 6.15 0 Cytoskeleton NA PE1 9 +NX_Q9BPX6 476 54351 8.61 1 Mitochondrion;Mitochondrion intermembrane space;Mitochondrion inner membrane Myopathy with extrapyramidal signs PE1 10 +NX_Q9BPX7 421 46451 6 0 Cytosol;Nucleoplasm NA PE1 7 +NX_Q9BPY3 351 39499 5.65 0 Cytosol;Cajal body;Cytoskeleton NA PE1 11 +NX_Q9BPY8 73 8260 4.8 0 Cytoskeleton;Nucleus;Cytoplasm NA PE1 4 +NX_Q9BPZ2 258 29158 6.72 0 Nucleus NA PE2 X +NX_Q9BPZ3 127 14984 4.03 0 Cytoplasm;Cytoplasmic vesicle;Cytoplasm NA PE1 5 +NX_Q9BPZ7 522 59123 7.24 0 Cell membrane;Nucleoplasm;Cytosol;Cell membrane;Cytoplasmic vesicle;Nucleus NA PE1 9 +NX_Q9BQ04 359 40150 6.28 0 Nucleus;Nucleolus NA PE1 11 +NX_Q9BQ08 111 11730 7.44 0 Secreted NA PE2 3 +NX_Q9BQ13 255 29591 8.78 0 NA NA PE1 11 +NX_Q9BQ15 211 22338 9.17 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q9BQ16 436 49429 4.79 0 Extracellular matrix;Golgi apparatus;Nucleolus;Nucleus NA PE1 4 +NX_Q9BQ24 234 26506 8.78 0 Cytoplasm;Focal adhesion;Cytoplasmic vesicle;Endosome NA PE1 14 +NX_Q9BQ31 491 56001 4.92 6 Cell membrane;Cytosol;Golgi apparatus;Cell membrane NA PE1 2 +NX_Q9BQ39 737 82565 9.26 0 Nucleolus;Nucleolus NA PE1 10 +NX_Q9BQ48 92 10165 12.25 0 Mitochondrion NA PE1 19 +NX_Q9BQ49 75 8631 7.9 1 Membrane;Golgi apparatus NA PE1 19 +NX_Q9BQ50 279 30621 6.37 0 Nucleus NA PE1 X +NX_Q9BQ51 273 30957 8.18 1 Secreted;Cytosol;Endomembrane system;Cell membrane NA PE1 9 +NX_Q9BQ52 826 92219 8.13 0 Nucleoplasm;Nucleus;Mitochondrion Combined oxidative phosphorylation deficiency 17;Prostate cancer, hereditary, 2 PE1 17 +NX_Q9BQ61 176 18419 9.46 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q9BQ65 265 30268 6.06 0 Nucleus;Nucleus Poikiloderma with neutropenia PE1 16 +NX_Q9BQ66 201 21407 8.37 0 NA NA PE1 17 +NX_Q9BQ67 446 49419 4.82 0 Nucleus;Chromosome;Nucleolus;Nucleus;Nucleolus NA PE1 19 +NX_Q9BQ69 325 35505 9.58 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q9BQ70 676 76667 5.96 0 Nucleus;Nucleus NA PE1 16 +NX_Q9BQ75 279 31884 9.26 0 Nucleus;Nucleus;Mitochondrion;Nucleolus;Nucleus membrane NA PE1 3 +NX_Q9BQ83 275 30771 6.59 0 Nucleus;Nucleoplasm NA PE1 16 +NX_Q9BQ87 522 56688 5.33 0 Nucleus NA PE1 Y +NX_Q9BQ89 295 31271 10.46 0 Cytoplasm;Cytoplasmic vesicle;Cytosol;Nucleus;Spindle pole;Centrosome NA PE1 20 +NX_Q9BQ90 382 43088 8.37 0 Nucleoplasm;Cytoplasm NA PE1 6 +NX_Q9BQ95 431 49148 5.89 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm;Mitochondrion NA PE1 19 +NX_Q9BQA1 342 36724 5.03 0 Nucleoplasm;Golgi apparatus;Nucleus;Cytoplasm;Cytosol NA PE1 1 +NX_Q9BQA5 517 59678 5.77 0 Cytosol;Nucleus;Nucleus;Cell junction NA PE1 11 +NX_Q9BQA9 187 20774 6.3 1 Membrane;Cell membrane;Cell junction NA PE1 17 +NX_Q9BQB4 213 24031 9.43 0 Extracellular matrix Craniodiaphyseal dysplasia autosomal dominant;Van Buchem disease;Sclerosteosis 1 PE1 17 +NX_Q9BQB6 163 18235 9.53 4 Endoplasmic reticulum membrane Coumarin resistance;Combined deficiency of vitamin K-dependent clotting factors 2 PE1 16 +NX_Q9BQC3 489 52083 5.36 0 Nucleus NA PE1 1 +NX_Q9BQC6 102 12266 11.45 0 Mitochondrion;Mitochondrion NA PE1 13 +NX_Q9BQD1 86 9856 8.66 0 NA NA PE5 5 +NX_Q9BQD3 176 19668 4.79 0 Lysosome membrane;Nucleolus;Centrosome;Cytosol NA PE1 19 +NX_Q9BQD7 235 25130 9.45 1 Membrane;Cytosol NA PE1 16 +NX_Q9BQE3 449 49895 4.96 0 Cytoplasm;Cytoskeleton NA PE1 12 +NX_Q9BQE4 189 21163 9.72 1 Cytoplasm;Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 15 +NX_Q9BQE5 337 37092 6.28 0 Cytoplasm NA PE1 22 +NX_Q9BQE6 289 31565 4.52 0 Cytosol;Nucleoplasm NA PE1 11 +NX_Q9BQE9 202 22195 4.67 0 Nucleoplasm NA PE1 7 +NX_Q9BQF6 1050 119658 6.19 0 Cytosol;Nucleoplasm NA PE1 3 +NX_Q9BQG0 1328 148855 9.34 0 Nucleolus;Nucleolus;Cytoplasm;Nucleus;Cytoplasmic vesicle NA PE1 17 +NX_Q9BQG1 590 63304 6.16 1 Cell membrane;Secretory vesicle membrane;Cell membrane NA PE1 19 +NX_Q9BQG2 462 52076 6.38 0 Nucleus;Peroxisome NA PE1 5 +NX_Q9BQI0 150 17068 6.63 0 Cytoskeleton;Cytoskeleton;Ruffle membrane NA PE1 9 +NX_Q9BQI3 630 71106 5.68 0 Cytoplasm;Nucleus;Cytoplasm;Cytosol NA PE1 7 +NX_Q9BQI4 270 30731 8.95 0 Endoplasmic reticulum;Cytosol;Secreted;Nucleus NA PE1 10 +NX_Q9BQI5 828 89109 8.39 0 Cytoplasm;Mitochondrion;Clathrin-coated pit NA PE1 1 +NX_Q9BQI6 1058 121050 8.7 0 Nucleus;Cytoplasm;Centrosome;Nucleus NA PE1 5 +NX_Q9BQI7 771 84660 5.04 1 Ruffle membrane;Cell membrane;Cleavage furrow NA PE1 5 +NX_Q9BQI9 281 31331 8.75 0 Nucleus NA PE1 12 +NX_Q9BQJ4 181 19998 6.26 4 Cell membrane;Membrane;Adherens junction;Nucleus membrane NA PE1 X +NX_Q9BQK8 851 93614 5.35 0 Nucleus;Cytosol NA PE1 20 +NX_Q9BQL6 677 77437 5.91 0 Ruffle membrane;Focal adhesion;Cytoskeleton Kindler syndrome PE1 20 +NX_Q9BQM9 153 17214 11.47 0 NA NA PE1 20 +NX_Q9BQN1 747 81078 8.28 0 NA NA PE1 20 +NX_Q9BQP7 344 39421 7.58 0 Mitochondrion;Mitochondrion Mitochondrial DNA depletion syndrome 11 PE1 20 +NX_Q9BQP9 254 28436 6.17 0 Secreted NA PE1 20 +NX_Q9BQQ3 440 46482 4.42 0 cis-Golgi network membrane;Golgi apparatus NA PE1 3 +NX_Q9BQQ7 232 27031 8.97 1 Mitochondrion;Membrane NA PE1 3 +NX_Q9BQR3 290 31940 8.47 0 Secreted NA PE1 16 +NX_Q9BQS2 421 47375 7.12 1 Cell membrane;Golgi apparatus NA PE1 10 +NX_Q9BQS6 159 17486 9.16 0 Cytoplasm;Nucleus NA PE1 17 +NX_Q9BQS7 1158 130449 5.61 1 Membrane NA PE1 X +NX_Q9BQS8 1478 166983 4.86 0 Autophagosome;Lysosome;Cytoplasmic vesicle;Endosome Cataract 18 PE1 3 +NX_Q9BQT8 299 33303 9.53 6 Mitochondrion inner membrane NA PE1 14 +NX_Q9BQT9 956 106098 5.24 1 Cell membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE1 12 +NX_Q9BQW3 602 64473 8.9 0 Nucleus NA PE2 20 +NX_Q9BQY4 288 31692 4.53 0 Nucleus NA PE1 X +NX_Q9BQY6 131 14626 8.64 0 Secreted NA PE2 20 +NX_Q9BQY9 259 27671 4.45 0 Cytoplasm;Cytosol;Nucleoplasm NA PE1 20 +NX_Q9BR01 284 33085 5.42 0 Cytoplasm NA PE1 22 +NX_Q9BR09 285 31690 7.76 0 Cytoplasm;Cytoplasmic vesicle NA PE2 20 +NX_Q9BR10 227 23834 8.59 1 Membrane;Golgi apparatus NA PE1 20 +NX_Q9BR11 485 55071 7.05 0 Cytosol;Cell membrane NA PE1 20 +NX_Q9BR26 566 61579 8.88 6 Membrane NA PE2 20 +NX_Q9BR39 696 74222 8.82 1 Cell membrane;Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane Cardiomyopathy, familial hypertrophic 17 PE1 20 +NX_Q9BR46 151 17183 8.93 0 NA NA PE4 20 +NX_Q9BR61 282 31151 5 0 Cytoplasm;Nucleoplasm;Cytosol NA PE1 1 +NX_Q9BR76 489 54235 5.6 0 Cell membrane;Cytoskeleton;Cytosol NA PE1 11 +NX_Q9BR77 488 57486 8.91 0 Nucleus membrane NA PE1 12 +NX_Q9BR84 538 62318 8.9 0 Nucleoplasm;Cytosol;Nucleus NA PE1 19 +NX_Q9BRA0 125 13514 5.37 0 Nucleus;Cytoplasm;Nucleus NA PE1 17 +NX_Q9BRA2 123 13941 5.4 0 Cytoplasm NA PE1 17 +NX_Q9BRB3 760 84082 8.37 5 Golgi apparatus;Nucleoplasm;Membrane;Cytoplasmic vesicle NA PE1 16 +NX_Q9BRC7 762 87585 5.08 0 Endoplasmic reticulum;Nucleus membrane;Cell membrane;Cytosol;Membrane;Nucleus;Cytoplasm NA PE1 2 +NX_Q9BRD0 619 70521 9.86 0 Nucleus NA PE1 11 +NX_Q9BRF8 314 35548 5.79 0 Cytoplasm;Cell membrane;Cytosol NA PE1 16 +NX_Q9BRG1 176 20748 5.97 0 Cytoplasm;Endosome membrane;Nucleoplasm;Centrosome NA PE1 17 +NX_Q9BRG2 576 63093 7.03 0 Nucleoplasm;Cytoskeleton;Cytoskeleton NA PE1 19 +NX_Q9BRH9 671 75763 9.36 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q9BRI3 323 35178 5.7 5 Vacuole membrane;Lysosome membrane;Cytoplasmic vesicle Zinc deficiency, transient neonatal PE1 1 +NX_Q9BRJ2 306 35351 9.14 0 Mitochondrion;Mitochondrion NA PE1 17 +NX_Q9BRJ6 194 22083 9.65 0 Nucleolus;Nucleus;Nucleus;Nucleolus NA PE1 7 +NX_Q9BRJ7 211 23338 9.07 0 Nucleus;Cytosol;Cell membrane NA PE1 16 +NX_Q9BRJ9 268 28501 9.26 0 Nucleus;Nucleolus;Nucleus NA PE2 15 +NX_Q9BRK0 252 28261 9.54 2 Membrane Spastic paraplegia 72 PE1 5 +NX_Q9BRK3 442 49132 6.75 1 Membrane;Nucleolus NA PE1 1 +NX_Q9BRK4 669 72759 6.13 0 Cell membrane;Centrosome;Cytoplasm;Cytosol NA PE1 10 +NX_Q9BRK5 362 41807 4.76 0 Cell membrane;Bleb;Golgi apparatus;Golgi apparatus lumen;Cytoplasm NA PE1 1 +NX_Q9BRL6 282 32288 11.72 0 Nucleus NA PE1 11 +NX_Q9BRL7 303 34269 5.91 4 Golgi apparatus;Endoplasmic reticulum membrane NA PE1 3 +NX_Q9BRN9 247 27118 8.43 2 Cytosol;Membrane;Nucleoplasm NA PE1 15 +NX_Q9BRP0 275 30438 9.02 0 Cytosol;Nucleoplasm;Nucleus Corneal dystrophy, posterior polymorphous, 1 PE1 20 +NX_Q9BRP1 358 39417 4.71 0 Mitochondrion NA PE1 19 +NX_Q9BRP4 392 42190 5.92 0 Nucleus;Cytosol NA PE1 11 +NX_Q9BRP7 624 70416 6.29 0 Cytosol;Nucleus NA PE1 11 +NX_Q9BRP8 204 22656 9.45 0 Nucleus;Nucleolus;Cell junction;Cytoplasm;Nucleolus;Nucleoplasm;Cytosol NA PE1 12 +NX_Q9BRP9 147 15625 9.02 0 NA NA PE5 11 +NX_Q9BRQ0 406 41244 6.89 0 Nucleus;Nucleoplasm NA PE1 1 +NX_Q9BRQ3 303 32580 4.99 0 Nucleoplasm NA PE1 11 +NX_Q9BRQ4 267 30859 6.39 0 Centrosome NA PE1 11 +NX_Q9BRQ5 295 31499 7.21 4 Membrane;Nucleoplasm;Cytosol NA PE1 16 +NX_Q9BRQ6 235 26458 9.01 0 Cytoplasm;Nucleus;Mitochondrion;Mitochondrion inner membrane;Mitochondrion NA PE1 3 +NX_Q9BRQ8 373 40527 9.16 1 Cytoplasm;Mitochondrion outer membrane;Membrane;Cytosol NA PE1 10 +NX_Q9BRR0 538 60641 5.98 0 Nucleus;Cytoplasm NA PE1 6 +NX_Q9BRR3 403 46588 7.27 3 Mitochondrion;Membrane NA PE1 9 +NX_Q9BRR6 497 54089 5.77 0 Nucleus;Cytoplasm;Centrosome;Secreted NA PE1 15 +NX_Q9BRR8 931 103345 6.59 0 Cell membrane;Nucleoplasm;Cell junction NA PE1 19 +NX_Q9BRR9 750 83260 8.65 0 NA NA PE1 12 +NX_Q9BRS2 568 65583 5.84 0 Cytosol;Cytoplasm;Nucleus speckle;Nucleolus NA PE1 6 +NX_Q9BRS8 491 54737 8.4 0 Cytoplasm;Cytoskeleton;Cytoskeleton;Nucleus NA PE1 15 +NX_Q9BRT2 126 14875 6.84 0 Mitochondrion;Nucleus;Mitochondrion inner membrane;Mitochondrion matrix;Mitochondrion intermembrane space;Mitochondrion;Mitochondrion nucleoid Mitochondrial complex III deficiency, nuclear 7 PE1 6 +NX_Q9BRT3 115 12403 4.4 0 Cytosol;Cell membrane NA PE1 17 +NX_Q9BRT6 129 15225 10.38 0 Nucleolus;Chromosome;Nucleolus NA PE1 12 +NX_Q9BRT7 94 10958 10.65 0 NA NA PE5 1 +NX_Q9BRT8 395 44068 4.76 0 NA NA PE1 9 +NX_Q9BRT9 223 26047 4.94 0 Centrosome;Nucleoplasm;Cytoplasm;Nucleus NA PE1 8 +NX_Q9BRU2 100 12324 8.46 0 Nucleus;Nucleus NA PE2 X +NX_Q9BRU9 249 28402 10.08 0 Nucleolus;Nucleolus NA PE1 8 +NX_Q9BRV3 221 25030 8.8 7 Cell membrane;Golgi apparatus membrane NA PE1 1 +NX_Q9BRV8 207 23721 5.09 0 Cytoplasmic vesicle;Cytoplasm;Focal adhesion NA PE1 1 +NX_Q9BRX2 385 43359 5.93 0 Nucleolus;Nucleus;Cytoplasm NA PE1 5 +NX_Q9BRX5 216 24535 5.21 0 Nucleus;Nucleoplasm NA PE1 16 +NX_Q9BRX8 229 25764 8.92 0 Cytoplasm;Secreted NA PE1 10 +NX_Q9BRX9 315 34343 5.36 0 Cytoplasm;Nucleus;Centrosome;Nucleoplasm;Cytoplasmic vesicle NA PE1 19 +NX_Q9BRY0 314 33601 6.39 8 Cytoplasmic vesicle;Membrane NA PE1 19 +NX_Q9BRZ2 755 81488 8.02 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 7 +NX_Q9BS16 269 31655 4.83 0 Nucleus;Centromere;Kinetochore NA PE1 5 +NX_Q9BS18 74 8521 4.04 0 Nucleus;Cytosol;Mitochondrion NA PE1 3 +NX_Q9BS26 406 46971 5.09 0 Endoplasmic reticulum lumen NA PE1 9 +NX_Q9BS31 505 57683 9.03 0 Nucleus;Nucleus NA PE1 19 +NX_Q9BS34 389 44603 8.8 0 Nucleus;Cytosol;Nucleus NA PE1 1 +NX_Q9BS40 222 25750 5.54 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 3 +NX_Q9BS86 351 40142 9.42 0 Secreted;Acrosome membrane NA PE1 7 +NX_Q9BS91 424 48500 8.55 10 Membrane;Golgi apparatus NA PE1 3 +NX_Q9BS92 247 28313 9.32 0 NA NA PE1 9 +NX_Q9BSA4 534 58772 5.48 5 Cell membrane NA PE1 17 +NX_Q9BSA9 504 55615 7.61 12 Endosome membrane;Lysosome membrane;Nucleus;Nucleus membrane Parkinson disease PE1 4 +NX_Q9BSB4 218 25003 5.81 0 Cytoplasm;Preautophagosomal structure NA PE1 12 +NX_Q9BSC4 688 80302 8.64 0 Nucleolus;Nucleolus NA PE1 2 +NX_Q9BSD3 238 26709 9.69 0 Nucleus;Chromosome NA PE1 12 +NX_Q9BSD7 190 20713 9.61 0 Cytosol NA PE1 1 +NX_Q9BSE2 394 43520 4.87 5 Nucleolus;Lysosome;trans-Golgi network;Membrane NA PE1 1 +NX_Q9BSE4 406 45147 4.93 1 Nucleolus;Membrane NA PE1 7 +NX_Q9BSE5 352 37660 7.54 0 Mitochondrion NA PE1 1 +NX_Q9BSF0 95 10970 4.84 0 Cell membrane NA PE1 2 +NX_Q9BSF4 260 29233 8.29 1 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion NA PE1 19 +NX_Q9BSF8 475 53779 7.65 0 Nucleus;Nucleus;Nucleolus;Cytoplasm NA PE1 11 +NX_Q9BSG0 188 21042 5.23 0 Secreted NA PE1 2 +NX_Q9BSG1 426 48863 8.91 0 Nucleus;Nucleoplasm;Cytosol;Cell membrane NA PE1 2 +NX_Q9BSG5 229 24615 8.59 0 Interphotoreceptor matrix;Endoplasmic reticulum;Cell membrane NA PE1 19 +NX_Q9BSH3 213 24202 6.59 0 Nucleus;Nucleoplasm NA PE1 3 +NX_Q9BSH4 297 32477 8.37 0 Mitochondrion;Mitochondrion Leigh syndrome PE1 17 +NX_Q9BSH5 251 28000 6.21 0 Nucleolus NA PE1 9 +NX_Q9BSI4 451 50023 8.2 0 Nucleus;Telomere;Nucleus matrix;Nucleus Dyskeratosis congenita, autosomal dominant, 3;Dyskeratosis congenita, autosomal dominant, 5 PE1 14 +NX_Q9BSJ1 452 52285 5.72 0 NA NA PE2 11 +NX_Q9BSJ2 902 102534 6.38 0 Nucleoplasm;Centrosome;Centrosome NA PE1 10 +NX_Q9BSJ5 609 67315 9.3 1 Cytoplasmic vesicle;Nucleoplasm;Membrane NA PE1 17 +NX_Q9BSJ6 248 27480 10.22 0 Nucleolus;Nucleus;Nucleus;Nucleolus;Cytosol NA PE1 17 +NX_Q9BSJ8 1104 122856 5.57 2 Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane;Endoplasmic reticulum membrane NA PE1 12 +NX_Q9BSK0 173 18914 9.69 4 Cell membrane;Cytoskeleton;Nucleus NA PE1 10 +NX_Q9BSK1 485 54939 9.39 0 Nucleus;Nucleus;Nucleolus NA PE1 19 +NX_Q9BSK2 321 35375 9.65 6 Mitochondrion inner membrane NA PE1 1 +NX_Q9BSK4 669 73639 5.71 0 Cytosol;Nucleus;Cytoplasm;Golgi apparatus NA PE1 19 +NX_Q9BSL1 405 45338 4.82 0 Cytosol;Golgi apparatus;Cell membrane;Cytoplasm NA PE1 9 +NX_Q9BSM1 259 30346 9.14 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q9BSN7 226 24540 8.1 4 Adherens junction;Cell membrane NA PE2 16 +NX_Q9BSQ5 444 48837 5.32 0 Mitochondrion;Cytoplasm Cerebral cavernous malformations 2 PE1 7 +NX_Q9BSR8 244 27083 4.5 5 Endoplasmic reticulum;cis-Golgi network membrane;Golgi apparatus;Cell membrane;Cytoplasmic vesicle NA PE1 2 +NX_Q9BST9 563 62667 7.18 0 Nucleoplasm;Mitochondrion NA PE1 2 +NX_Q9BSU1 422 47524 7.64 0 Nucleus speckle;Cytosol NA PE1 16 +NX_Q9BSU3 229 25979 5.05 0 Cytoplasm;Nucleus NA PE1 4 +NX_Q9BSV6 310 33652 8.53 0 Nucleus;Nucleus;Nucleolus Pontocerebellar hypoplasia 2C PE1 19 +NX_Q9BSW2 395 45592 4.95 0 Cytoplasm NA PE1 12 +NX_Q9BSW7 474 53849 7.23 0 Cytosol;Membrane;Nucleus NA PE1 16 +NX_Q9BSY4 110 12395 6.28 0 Mitochondrion;Mitochondrion intermembrane space NA PE1 2 +NX_Q9BSY9 194 21444 4.86 0 Cytoplasm;Cytoplasmic vesicle;Cytoplasm NA PE1 1 +NX_Q9BT04 418 45679 5.9 0 Cytosol;Cilium basal body;Cytoplasm;Cytoskeleton NA PE1 19 +NX_Q9BT09 278 30748 5.36 0 Endoplasmic reticulum NA PE1 6 +NX_Q9BT17 334 37237 9.54 0 Mitochondrion inner membrane;Mitochondrion NA PE1 10 +NX_Q9BT22 464 52518 6.8 1 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1K PE1 16 +NX_Q9BT23 127 14070 9.23 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 17 +NX_Q9BT25 410 44857 6.6 0 Spindle pole;Spindle;Centrosome;Cytoplasm NA PE1 19 +NX_Q9BT30 221 24516 6.61 0 Mitochondrion matrix NA PE1 19 +NX_Q9BT40 448 51090 6.07 0 Endoplasmic reticulum Muscular dystrophy, congenital, with cataracts and intellectual disability PE1 17 +NX_Q9BT43 218 25334 4.49 0 Nucleus;Golgi apparatus;Cytosol;Nucleus;Nucleoplasm NA PE1 1 +NX_Q9BT49 309 34414 9.54 0 Cytoplasmic vesicle;Chromosome;Nucleus;Nucleus NA PE1 22 +NX_Q9BT56 116 13302 9.73 0 Secreted;Extracellular space;Secretory vesicle NA PE1 12 +NX_Q9BT67 221 24899 4.55 3 Endosome membrane;Golgi apparatus membrane;Synaptosome;Secreted;Dendrite NA PE1 5 +NX_Q9BT73 122 13104 7.72 0 Cytoplasm NA PE1 7 +NX_Q9BT76 320 33882 6.33 1 Cytosol;Nucleus;Cytoplasmic vesicle;Cell membrane NA PE1 7 +NX_Q9BT78 406 46269 5.57 0 Synaptic vesicle;Nucleus;Cytoplasm;Nucleus speckle NA PE1 4 +NX_Q9BT81 388 42197 6.2 0 Nucleus;Golgi apparatus;Cytoplasm;Nucleus speckle NA PE1 8 +NX_Q9BT88 431 48297 9.15 1 Synapse;Synaptic vesicle membrane;Membrane NA PE1 1 +NX_Q9BT92 498 61072 6.2 0 Cytosol;Cytoskeleton;Cytoplasm;Cell membrane;Mitochondrion;Desmosome;Cell membrane;Centrosome NA PE1 12 +NX_Q9BTA0 163 18414 5.28 0 Cytoskeleton NA PE1 1 +NX_Q9BTA9 647 70724 9.49 0 Nucleoplasm;Nucleus speckle;Nucleus DeSanto-Shinawi syndrome PE1 10 +NX_Q9BTC0 2240 243873 8.09 0 Nucleoplasm;Cytoplasmic vesicle;Spindle;Nucleus;Cytoplasm NA PE1 20 +NX_Q9BTC8 594 67504 8.8 0 Cytoplasmic vesicle;Nucleus;Nucleus NA PE1 2 +NX_Q9BTD1 123 13317 9.49 0 NA NA PE5 11 +NX_Q9BTD3 319 35814 9.39 7 Cytosol;Membrane NA PE2 14 +NX_Q9BTD8 480 50414 9.65 0 Nucleus;Cytosol;Cytoplasm;Nucleus NA PE1 19 +NX_Q9BTE0 207 23361 4.67 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 17 +NX_Q9BTE1 182 20127 8.32 0 Nucleoplasm;Nucleus membrane;Cytoskeleton;Kinetochore NA PE1 16 +NX_Q9BTE3 642 72980 5.56 0 Nucleoplasm;Nucleus NA PE1 10 +NX_Q9BTE6 412 45480 6 0 Cytosol;Nucleus membrane;Cytoplasm NA PE1 17 +NX_Q9BTE7 237 27508 5.44 0 Nucleus;Nucleolus NA PE1 11 +NX_Q9BTF0 503 56433 7.92 0 Nucleoplasm NA PE1 2 +NX_Q9BTK2 45 4916 11.19 0 NA NA PE5 X +NX_Q9BTK6 254 27716 4.4 0 Nucleus NA PE1 16 +NX_Q9BTL3 118 14381 8.89 0 Nucleoplasm;Nucleus NA PE1 15 +NX_Q9BTL4 223 24196 6.46 0 Nucleus;Nucleoplasm;Cytoplasm NA PE1 19 +NX_Q9BTM1 129 14019 10.9 0 Nucleus;Chromosome NA PE1 12 +NX_Q9BTM9 101 11380 4.54 0 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm NA PE1 9 +NX_Q9BTN0 628 66260 6.88 1 Synapse;Dendrite;Axon;Cell membrane;Presynaptic cell membrane;Postsynaptic cell membrane NA PE1 19 +NX_Q9BTP6 218 25122 6.57 0 Mitochondrion;Nucleus;Cytosol NA PE1 3 +NX_Q9BTP7 215 23897 9.28 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_Q9BTT0 268 30692 3.77 0 Cytoplasm;Nucleus NA PE1 1 +NX_Q9BTT4 135 15688 5.82 0 Nucleus;Nucleoplasm NA PE1 5 +NX_Q9BTT6 524 59242 4.94 0 Cytosol;Cytoplasm;Membrane NA PE1 6 +NX_Q9BTU6 479 54022 8.51 0 Cell membrane;trans-Golgi network membrane;Membrane raft;Dendrite;Presynaptic cell membrane;Synaptosome;Mitochondrion;Endosome;Cell membrane;Cytoplasmic vesicle;Membrane NA PE1 10 +NX_Q9BTV4 400 44876 7.86 4 Golgi apparatus;Endoplasmic reticulum;Nucleus inner membrane Arrhythmogenic right ventricular dysplasia, familial, 5;Emery-Dreifuss muscular dystrophy 7, autosomal dominant PE1 3 +NX_Q9BTV5 496 55820 6.54 0 Centrosome;Cleavage furrow;Nucleus;Cytoplasm NA PE1 19 +NX_Q9BTV6 452 50575 6.11 0 Nucleus NA PE1 9 +NX_Q9BTV7 478 52235 9.84 0 Nucleus;Cell junction NA PE1 20 +NX_Q9BTW9 1192 132600 5.8 0 Centrosome;Tight junction;Lateral cell membrane;Cytoplasm;Adherens junction Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum PE1 17 +NX_Q9BTX1 674 76305 9.22 6 Cytoskeleton;Nucleus membrane;Nucleus membrane;Cell membrane;Nuclear pore complex NA PE1 1 +NX_Q9BTX3 173 19642 9.33 3 Endoplasmic reticulum membrane NA PE1 16 +NX_Q9BTX7 342 38515 6.03 0 Cytosol;Golgi apparatus NA PE1 20 +NX_Q9BTY2 467 54067 5.84 0 Secreted NA PE1 6 +NX_Q9BTY7 390 42129 4.73 0 Cytosol;Nucleoplasm;Nucleus NA PE1 8 +NX_Q9BTZ2 278 29537 8.81 0 Peroxisome;Nucleus NA PE1 14 +NX_Q9BU02 230 25566 4.75 0 Nucleolus;Nucleus;Cytoplasm NA PE1 14 +NX_Q9BU19 519 56968 7.54 0 Nucleus;Nucleolus;Nucleus NA PE1 1 +NX_Q9BU20 258 28498 7.06 0 Cilium basal body;Nucleoplasm NA PE1 1 +NX_Q9BU23 707 79698 10.1 11 Endoplasmic reticulum;Endoplasmic reticulum membrane;Centrosome NA PE1 22 +NX_Q9BU40 450 51168 8.52 0 Secreted Megalocornea 1, X-linked PE1 X +NX_Q9BU61 184 20350 8.48 0 Nucleus;Mitochondrion inner membrane Mitochondrial complex I deficiency PE1 3 +NX_Q9BU64 300 33786 7.63 0 Nucleus;Kinetochore;Centromere;Nucleus NA PE1 2 +NX_Q9BU68 103 11705 9.49 0 Cytosol NA PE1 17 +NX_Q9BU70 441 48587 6.74 0 Nucleoplasm NA PE1 9 +NX_Q9BU76 263 29412 10.03 0 Nucleus speckle;Cell membrane;Cytosol NA PE1 1 +NX_Q9BU79 118 13391 8.4 3 Membrane NA PE1 7 +NX_Q9BU89 302 32904 4.74 0 Nucleus;Cytosol NA PE1 19 +NX_Q9BUA3 381 41037 4.92 0 Nucleus speckle NA PE1 11 +NX_Q9BUA6 226 25308 5.56 0 Mitochondrion NA PE1 7 +NX_Q9BUB4 502 55392 9.2 0 Nucleoplasm NA PE1 16 +NX_Q9BUB5 465 51342 6.26 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q9BUB7 260 28969 9.02 2 Mitochondrion inner membrane;Nucleoplasm;Mitochondrion Mitochondrial complex V deficiency, nuclear 2 PE1 8 +NX_Q9BUD6 331 35846 5.35 0 Extracellular matrix;Cytoplasmic vesicle NA PE1 4 +NX_Q9BUE0 208 23663 6.06 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q9BUE6 129 14179 9.19 0 Mitochondrion Multiple mitochondrial dysfunctions syndrome 5 PE1 9 +NX_Q9BUF5 446 49857 4.77 0 Cytoskeleton NA PE1 18 +NX_Q9BUF7 120 12854 9.96 1 Tight junction;Apical cell membrane;Cell junction NA PE1 19 +NX_Q9BUG6 496 55865 8.7 0 Nucleus NA PE1 19 +NX_Q9BUH6 204 21640 5.39 0 Nucleus;Nucleus NA PE1 9 +NX_Q9BUH8 593 64803 5.4 0 Cytoplasm;Nucleus;Golgi apparatus;Cytosol;Membrane NA PE1 14 +NX_Q9BUI4 534 60612 6.88 0 Nucleus;Nucleoplasm NA PE1 1 +NX_Q9BUJ0 271 29765 8.74 1 Endoplasmic reticulum;Cytoplasm;Membrane;Cytoplasmic vesicle NA PE1 3 +NX_Q9BUJ2 856 95739 6.49 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q9BUK0 85 10095 9.1 0 Mitochondrion intermembrane space;Cell junction NA PE1 8 +NX_Q9BUK6 570 61835 5.7 0 Nucleus;Cytoplasm;Cytosol;Mitochondrion outer membrane;Nucleus membrane NA PE1 1 +NX_Q9BUL5 403 43818 5.62 0 Nucleus;Nucleus;Cytoplasm;Nucleoplasm NA PE1 17 +NX_Q9BUL8 212 24702 7.8 0 Cell membrane;Golgi apparatus membrane;Cytoplasm Cerebral cavernous malformations 3 PE1 3 +NX_Q9BUL9 199 20632 9.66 0 Nucleoplasm;Microtubule organizing center;Nucleus NA PE1 15 +NX_Q9BUM1 346 38735 8.47 9 Endoplasmic reticulum;Endoplasmic reticulum membrane Dursun syndrome;Neutropenia, severe congenital 4, autosomal recessive PE1 17 +NX_Q9BUN1 341 36769 8.96 0 Secreted NA PE1 1 +NX_Q9BUN5 200 22037 5.23 0 Centrosome Bardet-Biedl syndrome PE1 1 +NX_Q9BUN8 251 28801 9.54 4 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 8 +NX_Q9BUP0 239 26928 5.34 0 Golgi apparatus;Nucleolus;Mitochondrion inner membrane NA PE1 2 +NX_Q9BUP3 242 27049 8.58 0 Cytoplasm;Cytosol;Nucleus envelope NA PE1 11 +NX_Q9BUQ8 820 95583 9.58 0 Nucleolus;Nucleus;Nucleus NA PE1 12 +NX_Q9BUR4 548 59309 4.46 0 Nucleoplasm;Cytoplasm;Cajal body;Cytosol;Nucleus Dyskeratosis congenita, autosomal recessive, 3 PE1 17 +NX_Q9BUR5 198 22285 9.18 1 Cytosol;Mitochondrion;Mitochondrion inner membrane;Secreted;Mitochondrion;Golgi apparatus membrane;Endoplasmic reticulum membrane NA PE1 X +NX_Q9BUT1 245 26724 7.56 0 Cytoplasm;Cytosol NA PE1 4 +NX_Q9BUT9 160 17828 9.5 0 Nucleus;Cytoplasm;Cytoplasm;Nucleus NA PE1 16 +NX_Q9BUU2 404 44486 4.9 0 Nucleolus;Nucleus;Nucleus NA PE1 16 +NX_Q9BUV0 290 33613 11.76 0 Nucleoplasm NA PE1 1 +NX_Q9BUV8 137 15487 5.06 0 Cytosol NA PE1 20 +NX_Q9BUW7 83 9054 4.13 0 Cytoskeleton NA PE1 9 +NX_Q9BUX1 264 28747 5.96 0 Cytosol;trans-Golgi network;Mitochondrion NA PE1 15 +NX_Q9BUY5 554 63106 7.96 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q9BUY7 163 19225 8.59 0 Cell junction;Cytosol NA PE1 14 +NX_Q9BUZ4 470 53543 8.54 0 Cytoplasm;Tight junction;Nucleus;Perinuclear region;Cytoskeleton;Cell membrane NA PE1 17 +NX_Q9BV10 488 54655 9.63 12 Endoplasmic reticulum;Endoplasmic reticulum membrane Congenital disorder of glycosylation 1G PE1 22 +NX_Q9BV19 199 21877 5.54 0 NA NA PE1 1 +NX_Q9BV20 369 39150 5.89 0 Cytoplasm;Cytosol;Nucleoplasm;Nucleolus;Cell projection;Cytoplasm;Nucleus NA PE1 19 +NX_Q9BV23 337 38331 8.67 1 Membrane;Nucleoplasm;Mitochondrion;Cytoplasmic vesicle NA PE1 3 +NX_Q9BV29 185 20656 4.42 0 Cytoplasmic vesicle;Nucleus speckle NA PE1 15 +NX_Q9BV35 468 52378 6.85 6 Mitochondrion inner membrane;Mitochondrion NA PE1 19 +NX_Q9BV36 600 65949 5.73 0 Cytoplasm Griscelli syndrome 3 PE1 2 +NX_Q9BV38 432 47405 6.21 0 Nucleoplasm;Nucleolus;Nucleoplasm;Cytoplasm NA PE1 19 +NX_Q9BV40 100 11438 6.73 1 Late endosome membrane;Lysosome membrane;Early endosome membrane;Cell membrane NA PE1 2 +NX_Q9BV44 507 57003 5.97 0 Cytosol;Nucleolus NA PE1 3 +NX_Q9BV47 211 23946 9.66 0 Nucleus;Golgi apparatus;Nucleus;Cytoplasm NA PE1 8 +NX_Q9BV57 179 21498 5.43 0 Nucleoplasm;Cell membrane;Nucleus;Golgi apparatus;Cytoplasm NA PE1 2 +NX_Q9BV68 326 35585 5.44 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA PE1 19 +NX_Q9BV73 2442 281137 5 0 Centriole;Centrosome;Perinuclear region;Cilium basal body NA PE1 20 +NX_Q9BV79 373 40462 8.99 0 Mitochondrion;Cytoplasm;Mitochondrion;Nucleus Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities PE1 1 +NX_Q9BV81 110 12017 10.08 2 Membrane;Nucleus;Centrosome NA PE1 17 +NX_Q9BV86 223 25387 5.32 0 Nucleus;Nucleoplasm;Cytosol NA PE1 9 +NX_Q9BV87 410 45456 5.47 1 Membrane NA PE2 2 +NX_Q9BV90 132 15270 7.75 0 Cytosol;Nucleus;Nucleoplasm;Cytoskeleton NA PE1 16 +NX_Q9BV94 578 64753 5.16 0 Endoplasmic reticulum lumen NA PE1 20 +NX_Q9BV97 191 20610 10.78 0 NA NA PE1 16 +NX_Q9BV99 259 28014 4.69 0 Nucleoplasm NA PE2 7 +NX_Q9BVA0 655 72334 7.51 0 Cytosol;Cytoskeleton;Cytoskeleton;Cytoplasm;Centrosome;Spindle pole;Spindle;Cell membrane Lissencephaly 6, with microcephaly PE1 16 +NX_Q9BVA1 445 49953 4.78 0 Cytoskeleton Fetal akinesia deformation sequence;Cortical dysplasia, complex, with other brain malformations 7 PE1 6 +NX_Q9BVA6 458 51778 7.31 1 Nucleus;Membrane NA PE1 12 +NX_Q9BVC3 393 44825 5.05 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q9BVC4 326 35876 5.5 0 Nucleoplasm;Golgi apparatus;Cytoplasm;Cell junction NA PE1 16 +NX_Q9BVC5 232 25858 9.76 0 Cytoplasm;Mitochondrion;Nucleoplasm NA PE1 2 +NX_Q9BVC6 243 26210 10.48 3 Cytosol;Sarcoplasmic reticulum membrane;Nucleus membrane;Nucleus outer membrane;Endoplasmic reticulum membrane NA PE1 11 +NX_Q9BVG3 475 54268 6.17 0 Cytoplasmic vesicle;Focal adhesion;Cytoplasm NA PE1 1 +NX_Q9BVG4 233 26057 4.72 0 Cytoplasm;Cytosol;Nucleolus;Nucleus NA PE1 X +NX_Q9BVG8 833 92775 7.62 0 Adherens junction;Centrosome;Cytoplasmic vesicle membrane NA PE1 16 +NX_Q9BVG9 487 56253 5.86 7 Endoplasmic reticulum membrane NA PE1 11 +NX_Q9BVH7 336 38443 9.56 1 Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 1 +NX_Q9BVI0 1012 115386 6.55 0 Nucleus;Nucleus membrane;Nucleus;Nucleoplasm;Cytosol NA PE1 20 +NX_Q9BVI4 516 58468 7.08 3 Nucleus;Nucleus membrane;Nucleolus;Nucleolus NA PE1 12 +NX_Q9BVJ6 771 87978 7.67 0 Nucleolus NA PE1 X +NX_Q9BVJ7 150 16588 8.44 0 Cytosol;Nucleus;Nucleoplasm NA PE1 1 +NX_Q9BVK2 526 60088 9.28 11 Endoplasmic reticulum membrane;Nucleoplasm Congenital disorder of glycosylation 1H PE1 11 +NX_Q9BVK6 235 27277 7.81 1 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;trans-Golgi network membrane NA PE1 5 +NX_Q9BVK8 224 25261 7.61 6 Golgi apparatus;Endoplasmic reticulum membrane;Cytosol;Cytoskeleton NA PE1 19 +NX_Q9BVL2 599 60897 9.36 0 Nuclear pore complex;Nucleus membrane;Cell membrane;Nucleus membrane;Mitochondrion;Cytosol NA PE1 13 +NX_Q9BVL4 669 73489 5.69 0 Mitochondrion NA PE1 22 +NX_Q9BVM2 203 23240 9.11 0 Nucleus speckle NA PE1 10 +NX_Q9BVM4 153 17329 6.37 0 NA NA PE1 13 +NX_Q9BVN2 902 96444 5.9 0 Nucleus;Cytoplasm;Cytosol;Cytoskeleton;Cytoplasmic vesicle;Early endosome;Postsynaptic density;Golgi apparatus NA PE1 1 +NX_Q9BVP2 549 61993 9.23 0 Nucleus;Nucleus;Nucleolus;Nucleolus NA PE1 3 +NX_Q9BVQ7 753 80710 8.42 0 Cytoplasm;Nucleus;Cytoplasm;Nucleolus NA PE1 15 +NX_Q9BVR0 1158 128943 6.45 0 NA NA PE5 15 +NX_Q9BVS4 552 63283 5.66 0 Cell membrane;Cytosol;Cytoplasm NA PE1 5 +NX_Q9BVS5 477 52965 6.17 0 Cytosol;Mitochondrion NA PE1 2 +NX_Q9BVT8 246 26261 5.44 3 Cytosol;Nucleoplasm;Postsynaptic cell membrane;Recycling endosome;Cytoplasm;Membrane;Nucleus;Nucleolus;Cytoplasm;Centrosome;Nucleolus;Nucleus NA PE1 7 +NX_Q9BVV2 318 36526 8.82 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 20 +NX_Q9BVV6 1533 169307 5.37 0 Centrosome;Cytosol;Nucleoplasm;Cilium basal body;Photoreceptor inner segment;Centriole Joubert syndrome 23;Short-rib thoracic dysplasia 14 with polydactyly PE1 14 +NX_Q9BVV7 248 28202 9.73 1 Mitochondrion membrane;Nucleoplasm NA PE1 18 +NX_Q9BVV8 132 14249 9.23 1 Membrane;Nucleus speckle;Golgi apparatus NA PE1 19 +NX_Q9BVW5 301 34555 4.73 0 Nucleus;Nucleus;Nucleus;Cytoplasm;Cytoplasmic vesicle NA PE1 15 +NX_Q9BVW6 85 9520 5.19 1 Membrane NA PE1 13 +NX_Q9BVX2 250 27875 6.3 2 Endoplasmic reticulum membrane;Membrane NA PE1 12 +NX_Q9BW04 601 63964 8.78 0 Cytoplasm;Cytosol;Cell membrane NA PE1 1 +NX_Q9BW11 206 23477 9.32 0 Nucleus;Nucleus;Nucleolus NA PE1 5 +NX_Q9BW19 673 73748 9.15 0 Centrosome;Nucleus;Centrosome;Spindle;Early endosome NA PE1 6 +NX_Q9BW27 656 75019 5.36 0 Nucleus membrane;Cytosol;Nucleus;Nuclear pore complex;Kinetochore;Spindle;Cytoplasm NA PE1 17 +NX_Q9BW30 176 18985 9.19 0 Cytoskeleton;Nucleolus NA PE1 16 +NX_Q9BW60 279 32663 9.62 7 Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 1 +NX_Q9BW61 102 11835 8.73 0 Nucleolus;Nucleus NA PE1 19 +NX_Q9BW62 490 55392 6.35 0 Cytosol;Cytoplasm;Spindle pole;Spindle;Cytoskeleton;Nucleoplasm NA PE1 13 +NX_Q9BW66 212 24324 5.87 0 Nucleus NA PE1 14 +NX_Q9BW71 556 61957 8.71 0 Nucleus;Nucleus NA PE1 16 +NX_Q9BW72 106 11529 10.21 2 Mitochondrion inner membrane;Mitochondrion membrane NA PE1 5 +NX_Q9BW83 186 20480 5.28 0 Cilium;Nucleoplasm;Mitochondrion Bardet-Biedl syndrome 19 PE1 22 +NX_Q9BW85 323 37086 5.75 0 Nucleoplasm NA PE1 19 +NX_Q9BW91 350 39125 8.26 0 Mitochondrion;Nucleus membrane;Cell junction;Mitochondrion NA PE1 4 +NX_Q9BW92 718 81036 6.9 0 Cytosol;Nucleoplasm;Cytoskeleton;Mitochondrion matrix Combined oxidative phosphorylation deficiency 21 PE1 1 +NX_Q9BWC9 280 32032 9.47 0 Nucleus;Nucleus;Cytosol NA PE1 19 +NX_Q9BWD1 397 41351 6.47 0 Cytoplasm;Cytosol;Nucleus NA PE1 6 +NX_Q9BWD3 113 13188 4.94 0 NA NA PE1 X +NX_Q9BWE0 567 63575 10.05 0 Nucleus;Nucleus NA PE1 7 +NX_Q9BWF2 469 53294 8.75 0 Cell membrane;Nucleus;Nucleolus;Perinuclear region;Cytoplasm;Cytosol Seckel syndrome 9 PE1 3 +NX_Q9BWF3 364 40314 6.61 0 Nucleus speckle;Cytoplasm;Cytoplasmic granule;Nucleus;Nucleolus NA PE1 11 +NX_Q9BWG4 385 39388 6.3 0 Nucleus NA PE1 19 +NX_Q9BWG6 230 25949 9.03 0 Nucleus;Nucleus speckle;Nucleus NA PE1 1 +NX_Q9BWH2 189 20676 9.74 0 Mitochondrion NA PE1 X +NX_Q9BWH6 1393 152755 5.95 0 Nucleus;Cytosol;Nucleoplasm NA PE1 15 +NX_Q9BWJ2 59 6658 6.1 0 NA NA PE5 8 +NX_Q9BWJ5 86 10135 5.89 0 Nucleus;Nucleoplasm;Nucleus NA PE1 6 +NX_Q9BWK5 157 16829 5.16 0 Cytoplasm;Nucleus;Golgi apparatus NA PE1 7 +NX_Q9BWL3 253 28779 9.61 1 Membrane NA PE1 1 +NX_Q9BWM5 594 67188 8.33 0 Nucleus;Cytosol;Nucleus NA PE1 19 +NX_Q9BWM7 321 35503 9.26 4 Mitochondrion;Mitochondrion membrane NA PE1 10 +NX_Q9BWN1 585 64328 10.35 0 Chromosome;Nucleus;Nucleus lamina;Nucleoplasm;Nucleoplasm NA PE1 16 +NX_Q9BWP8 271 28665 5.26 0 Secreted 3MC syndrome 2 PE1 2 +NX_Q9BWQ6 316 35151 5.43 5 Golgi apparatus;Golgi apparatus;cis-Golgi network membrane;trans-Golgi network membrane;Late endosome membrane;Mitochondrion NA PE1 19 +NX_Q9BWQ8 316 35110 6.06 7 Cytoskeleton;Membrane raft;Postsynaptic cell membrane;Cell membrane NA PE1 12 +NX_Q9BWS9 393 44941 8.74 0 Nucleoplasm;Secreted;Lysosome;Cytoskeleton NA PE1 11 +NX_Q9BWT1 371 42573 9.57 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Immunodeficiency-centromeric instability-facial anomalies syndrome 3 PE1 2 +NX_Q9BWT3 736 82803 9.21 0 Nucleus;Nucleoplasm NA PE1 2 +NX_Q9BWT6 205 23753 8.28 0 Nucleus NA PE1 4 +NX_Q9BWT7 1032 115931 5.74 0 Cytosol;Cytoskeleton;Cytoplasm;Cytoplasmic vesicle NA PE1 22 +NX_Q9BWU0 796 88814 5.11 0 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Nucleus NA PE1 2 +NX_Q9BWU1 502 56802 8.66 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 6 +NX_Q9BWV1 1114 121059 6.58 1 Cell membrane;Cell membrane;Nucleoplasm NA PE1 3 +NX_Q9BWV2 254 28740 9.53 1 Mitochondrion;Membrane NA PE1 5 +NX_Q9BWV3 514 58455 8.34 0 Nucleoplasm NA PE1 13 +NX_Q9BWV7 592 67336 9 0 Nucleus membrane;Nucleolus NA PE2 6 +NX_Q9BWW4 388 40421 6.4 0 Nucleus NA PE1 1 +NX_Q9BWW7 348 35570 9.56 0 Nucleus;Nucleus NA PE1 8 +NX_Q9BWW8 343 38128 8.58 0 Cytosol;Nucleus;Cytoplasm;Nucleoplasm NA PE1 22 +NX_Q9BWW9 433 47044 9.39 0 Cytoplasm NA PE2 22 +NX_Q9BWX1 381 43767 8.58 0 Nucleoplasm;Golgi apparatus;Nucleus NA PE1 3 +NX_Q9BWX5 397 41299 9.17 0 Cytosol;Nucleoplasm;Nucleus Tetralogy of Fallot PE1 20 +NX_Q9BX10 602 65768 8.32 0 Cytoplasm;Cytoplasmic vesicle NA PE1 6 +NX_Q9BX26 1530 175639 9.01 0 Cytosol;Nucleoplasm;Cell membrane;Nucleus;Chromosome NA PE1 20 +NX_Q9BX40 385 42071 9.69 0 Nucleolus;Cytoplasmic vesicle NA PE1 20 +NX_Q9BX46 236 24776 8.52 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 6 +NX_Q9BX51 225 24274 5 0 NA NA PE2 20 +NX_Q9BX59 468 50183 5.12 1 Cell membrane;Endoplasmic reticulum membrane;Microsome membrane;Golgi apparatus membrane NA PE1 12 +NX_Q9BX63 1249 140878 6.49 0 Nucleus membrane;Nucleus;Nucleus Breast cancer;Fanconi anemia complementation group J PE1 17 +NX_Q9BX66 1292 142513 6.4 0 Cytoskeleton;Centrosome;Cell membrane;Nucleus;Nucleus matrix;Focal adhesion;Focal adhesion;Cytoskeleton;Cell membrane;Adherens junction NA PE1 10 +NX_Q9BX67 310 35020 7.53 1 Desmosome;Cell membrane;Golgi apparatus;Extracellular space Hemorrhagic destruction of the brain with subependymal calcification and cataracts PE1 11 +NX_Q9BX68 163 17162 9.2 0 Mitochondrion;Mitochondrion NA PE1 9 +NX_Q9BX69 1037 116468 5.98 0 Focal adhesion;Cytosol NA PE1 5 +NX_Q9BX70 525 55931 5.63 0 P-body NA PE1 19 +NX_Q9BX73 214 22871 4.83 2 Membrane;Nucleoplasm;Cytoplasmic vesicle;Cell membrane NA PE1 8 +NX_Q9BX74 207 22327 6.09 2 Membrane NA PE1 1 +NX_Q9BX79 667 73503 9.18 9 Nucleus;Cytosol;Cell membrane Microphthalmia, syndromic, 9 PE1 15 +NX_Q9BX82 626 73009 8.88 0 Nucleus;Nucleus;Nucleus NA PE1 19 +NX_Q9BX84 2022 231708 7.86 6 Cell membrane Hypomagnesemia 1 PE1 9 +NX_Q9BX93 195 21659 5.75 0 Cytoplasmic vesicle;Secreted NA PE1 10 +NX_Q9BX95 441 49108 9.08 9 Nucleus;Cell membrane;Endoplasmic reticulum membrane NA PE1 14 +NX_Q9BX97 442 50594 9.01 1 Cell membrane;Cytosol;Caveola;Perinuclear region NA PE1 19 +NX_Q9BXA5 334 38698 9.14 7 Cell membrane NA PE1 3 +NX_Q9BXA6 273 30331 9.24 0 NA NA PE1 19 +NX_Q9BXA7 367 41618 7.6 0 Cytoplasm;Acrosome;Flagellum NA PE1 5 +NX_Q9BXA9 1300 135346 6.56 0 Nucleus NA PE1 18 +NX_Q9BXB1 951 104475 5.78 7 Microtubule organizing center;Cell membrane Osteoporosis PE1 11 +NX_Q9BXB4 747 83643 6.6 0 Nucleoplasm;Golgi apparatus;Late endosome membrane;trans-Golgi network membrane NA PE1 3 +NX_Q9BXB5 764 83970 8.56 0 Golgi apparatus;Cell membrane;Cytosol;Cytoskeleton NA PE1 3 +NX_Q9BXB7 569 65263 9.21 0 Golgi apparatus Spermatogenic failure 6 PE1 3 +NX_Q9BXC0 346 39295 9.14 7 Cell membrane NA PE1 12 +NX_Q9BXC1 333 38503 8.73 7 Cell membrane;Cytoplasmic vesicle NA PE2 X +NX_Q9BXC9 721 79871 5.74 0 Cilium membrane;Cytoplasm;Centriolar satellite Retinitis pigmentosa 74;Bardet-Biedl syndrome 2 PE1 16 +NX_Q9BXD5 320 35163 5.4 0 Cytoplasmic vesicle;Cell membrane;Cytoplasm NA PE1 1 +NX_Q9BXE9 311 34713 9.83 7 Cell membrane NA PE2 16 +NX_Q9BXF3 1484 164213 6.51 0 Nucleolus;Nucleus NA PE1 22 +NX_Q9BXF6 653 70415 9.28 0 Cytoplasm;Cytoplasmic vesicle;Recycling endosome membrane;Microtubule organizing center;Early endosome membrane;Golgi apparatus membrane;Secretory vesicle membrane;Mitochondrion membrane NA PE1 2 +NX_Q9BXF9 490 56636 6.93 0 Flagellum axoneme;Cilium axoneme NA PE1 17 +NX_Q9BXG8 430 49445 7.21 0 Nucleus;Cytoplasm NA PE1 5 +NX_Q9BXH1 193 20532 9.09 0 Mitochondrion;Cytosol NA PE1 19 +NX_Q9BXI2 301 32580 9.22 6 Mitochondrion inner membrane NA PE1 5 +NX_Q9BXI3 368 41021 6.11 0 Cytoplasm NA PE1 1 +NX_Q9BXI6 508 57118 8.69 0 Nucleoplasm;Cell membrane;Microvillus NA PE1 22 +NX_Q9BXI9 259 28669 5.65 0 Secreted;Nucleus NA PE1 22 +NX_Q9BXJ0 243 25298 6.05 0 Secreted Late-onset retinal degeneration PE1 11 +NX_Q9BXJ1 281 31743 6.42 0 Nucleus;Cytosol;Secreted NA PE1 17 +NX_Q9BXJ2 289 30683 5.11 0 Secreted NA PE1 4 +NX_Q9BXJ3 329 35256 8.38 0 Secreted NA PE1 11 +NX_Q9BXJ4 246 26994 6.04 0 Golgi apparatus;Secreted NA PE1 5 +NX_Q9BXJ5 285 29952 9.04 0 Secreted NA PE1 5 +NX_Q9BXJ7 453 47754 5.76 1 Apical cell membrane;Cell membrane;Endosome;Coated pit Recessive hereditary megaloblastic anemia 1 PE1 14 +NX_Q9BXJ8 343 40610 9.14 5 Nucleus inner membrane NA PE1 7 +NX_Q9BXJ9 866 101272 7.23 0 Cytoplasm;Nucleus;Cytosol NA PE1 4 +NX_Q9BXK1 252 25431 9.95 0 Nucleus;Nucleus NA PE1 19 +NX_Q9BXK5 485 52723 4.41 1 Mitochondrion membrane;Nucleus;Mitochondrion NA PE1 22 +NX_Q9BXL5 484 55341 4.82 0 Nucleus NA PE1 9 +NX_Q9BXL6 1004 113270 5.65 0 Cytoplasm Psoriasis 2;Pityriasis rubra pilaris PE1 17 +NX_Q9BXL7 1154 133284 5.78 0 Cytoplasm;Membrane raft B-cell expansion with NFKB and T-cell anergy;Immunodeficiency 11B with atopic dermatitis;Immunodeficiency 11 A PE1 7 +NX_Q9BXL8 241 26114 4.86 0 Nucleus;Cytosol;Nucleoplasm NA PE1 14 +NX_Q9BXM0 1461 154905 7.22 0 Cytoplasmic vesicle;Cell membrane;Golgi apparatus;Cell junction;Cell membrane;Cell membrane;Nucleus;Cytoplasm Charcot-Marie-Tooth disease 4F;Dejerine-Sottas syndrome PE1 19 +NX_Q9BXM7 581 62769 9.43 1 Cytosol;Mitochondrion outer membrane;Mitochondrion inner membrane Parkinson disease 6 PE1 1 +NX_Q9BXM9 530 59578 5.86 0 Cytoskeleton;Cell membrane NA PE1 9 +NX_Q9BXN1 380 43417 6.61 0 Nucleoplasm;Cytoplasmic vesicle;Extracellular matrix Osteoarthritis 3;Intervertebral disc disease PE1 9 +NX_Q9BXN2 247 27627 5.21 1 Cell membrane;Nucleoplasm;Cytoplasmic vesicle;Cytoplasm Candidiasis, familial, 4 PE1 12 +NX_Q9BXN6 97 11029 5.87 0 Nucleus;Cytoplasm NA PE1 X +NX_Q9BXP2 914 96110 8.35 12 Cell membrane NA PE1 7 +NX_Q9BXP5 876 100666 5.7 0 Nucleoplasm;Cytoplasm;Nucleoplasm NA PE1 7 +NX_Q9BXP8 1791 198539 5.26 0 Endoplasmic reticulum;Cytoplasmic vesicle;Secreted NA PE1 1 +NX_Q9BXQ6 578 58425 9.35 0 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA PE1 22 +NX_Q9BXR0 403 44048 6.82 0 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA PE1 19 +NX_Q9BXR3 956 107688 9.07 0 NA NA PE2 7 +NX_Q9BXR5 811 94564 6.32 1 Membrane NA PE1 4 +NX_Q9BXR6 569 64419 6.81 0 Secreted CFHR5 deficiency PE1 1 +NX_Q9BXS0 654 64771 8.6 1 Cytosol;Cytoplasmic vesicle;Membrane;Endoplasmic reticulum Fibrosis of extraocular muscles, congenital, 5 PE1 4 +NX_Q9BXS1 227 26753 6.01 0 Peroxisome NA PE1 10 +NX_Q9BXS4 323 36223 5 1 Cell membrane;Late endosome membrane;Lysosome membrane;Golgi apparatus membrane NA PE1 1 +NX_Q9BXS5 423 48587 6.82 0 Golgi apparatus;Clathrin-coated vesicle membrane NA PE1 19 +NX_Q9BXS6 441 49452 9.92 0 Nucleolus;Cytosol;Cytoplasm;Spindle;Nucleolus;Nucleus;Chromosome NA PE1 15 +NX_Q9BXS9 759 82967 8.57 8 Cell membrane;Cytosol;Basolateral cell membrane;Cytoplasmic vesicle membrane;Microsome;Membrane;Apical cell membrane NA PE1 3 +NX_Q9BXT2 260 28129 9.4 4 Cytosol;Membrane;Nucleolus NA PE2 19 +NX_Q9BXT4 1180 132024 5.96 0 Cytoplasm NA PE1 10 +NX_Q9BXT5 2789 315336 5.81 0 Cytoplasm;Nucleus;Nucleus speckle NA PE2 8 +NX_Q9BXT6 1211 135293 6.07 0 Cytoplasm NA PE1 22 +NX_Q9BXT8 1623 184643 5.27 0 Cytoplasm;Nucleus NA PE1 13 +NX_Q9BXU0 123 14107 5.22 0 NA NA PE1 11 +NX_Q9BXU1 1019 115694 5.04 0 NA NA PE1 7 +NX_Q9BXU2 312 33967 5.79 0 NA NA PE1 X +NX_Q9BXU3 409 45583 5.36 0 NA NA PE1 X +NX_Q9BXU7 913 104047 8.91 0 Nucleus NA PE1 X +NX_Q9BXU8 183 21142 6.05 0 NA NA PE1 X +NX_Q9BXU9 219 24837 4.76 1 Cell membrane;Perinuclear region;trans-Golgi network membrane;Cytoplasmic vesicle;Cell membrane NA PE1 7 +NX_Q9BXV9 100 10859 4.08 0 Nucleus;Nucleolus;Nucleus NA PE1 14 +NX_Q9BXW3 62 6988 4.63 0 NA NA PE5 1 +NX_Q9BXW4 147 16852 9.14 0 Cytosol;Cytoskeleton;Endomembrane system;Autophagosome membrane;Autophagosome NA PE1 1 +NX_Q9BXW6 950 108470 5.96 0 Cytosol;Nucleoplasm;Late endosome NA PE1 18 +NX_Q9BXW7 423 46321 8.38 0 Mitochondrion NA PE1 22 +NX_Q9BXW9 1451 164128 5.58 0 Nucleus;Nucleus;Nucleus;Cytosol Fanconi anemia complementation group D2 PE1 3 +NX_Q9BXX0 1053 115687 6.04 0 Extracellular matrix NA PE1 18 +NX_Q9BXX2 1392 158049 6.01 0 NA NA PE2 18 +NX_Q9BXX3 1397 158835 6.08 0 NA NA PE1 10 +NX_Q9BXY0 300 35369 5.27 0 Nucleolus;Cytoplasmic vesicle;Nucleolus NA PE1 8 +NX_Q9BXY4 272 30929 9.53 0 Secreted NA PE1 6 +NX_Q9BXY5 557 63835 8.87 0 Nucleus;Nucleolus;Centrosome NA PE2 12 +NX_Q9BXY8 128 15321 5.89 0 Cytoplasm;Nucleus NA PE1 X +NX_Q9BY07 1137 126255 8.1 12 Apical cell membrane NA PE1 2 +NX_Q9BY08 206 23204 5.91 4 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 13 +NX_Q9BY10 475 51067 9.18 12 Cell membrane NA PE2 9 +NX_Q9BY11 444 50966 5.15 0 Cytoplasm;Nucleus;Cytoplasm;Cell projection;Synaptosome;Ruffle membrane;Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Synapse;Cytosol;Membrane;Cell membrane NA PE1 6 +NX_Q9BY12 1400 158287 7.21 0 Cytosol;Nucleus;Endoplasmic reticulum;Nucleus NA PE1 15 +NX_Q9BY14 249 26667 4.9 0 Membrane raft;Cell membrane;Acrosome;Secreted;Cytoplasmic vesicle NA PE1 19 +NX_Q9BY15 652 72621 8.41 7 Cell membrane;Secreted NA PE1 19 +NX_Q9BY19 250 26290 5.76 4 Membrane NA PE2 11 +NX_Q9BY21 358 41436 9.55 7 Nucleoplasm;Lipid droplet;Mitochondrion;Cell membrane NA PE2 3 +NX_Q9BY27 220 24932 7.02 0 Nucleus NA PE1 22 +NX_Q9BY31 904 105251 8.91 0 Nucleus NA PE1 3 +NX_Q9BY32 194 21446 5.5 0 Cytosol;Cytoplasm Epileptic encephalopathy, early infantile, 35;Inosine triphosphate pyrophosphohydrolase deficiency PE1 20 +NX_Q9BY41 377 41758 5.36 0 Cell membrane;Nucleus;Cytoplasm;Nucleus Cornelia de Lange syndrome 5;Wilson-Turner X-linked mental retardation syndrome PE1 X +NX_Q9BY42 306 33887 8.87 0 Nucleus;Nucleolus NA PE1 20 +NX_Q9BY43 222 25098 4.65 0 Cytoplasmic vesicle membrane;Late endosome membrane NA PE1 14 +NX_Q9BY44 585 64990 9 0 Cytosol;Mitochondrion NA PE1 3 +NX_Q9BY49 303 32544 8.97 0 Peroxisome;Peroxisome NA PE1 2 +NX_Q9BY50 192 21542 9.2 1 Microsome membrane;Endoplasmic reticulum membrane NA PE1 18 +NX_Q9BY60 117 13976 8.71 0 Cytoskeleton;Autophagosome membrane NA PE2 15 +NX_Q9BY64 529 60906 8.84 1 Microsome membrane;Endoplasmic reticulum membrane NA PE1 4 +NX_Q9BY65 106 11990 7.72 0 NA NA PE4 3 +NX_Q9BY66 1539 174073 5.59 0 Nucleolus;Nucleus NA PE1 Y +NX_Q9BY67 442 48509 4.94 1 Cell junction;Synapse;Cell membrane NA PE1 11 +NX_Q9BY71 257 28108 6.45 1 Membrane NA PE1 21 +NX_Q9BY76 406 45214 9.07 0 Nucleoplasm;Cytoplasmic vesicle;Secreted;Extracellular matrix NA PE1 19 +NX_Q9BY77 421 46089 10 0 Cytosol;Nucleus speckle;Nucleus;Nucleus speckle;Cytoplasm NA PE1 22 +NX_Q9BY78 433 47737 8.86 5 Cytoplasmic vesicle;Nucleoplasm;Cytosol;Endoplasmic reticulum membrane NA PE1 11 +NX_Q9BY79 579 62212 4.84 1 Apical cell membrane Microphthalmia, isolated, 5;Nanophthalmos 2 PE1 11 +NX_Q9BY84 665 73102 7.24 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA PE1 12 +NX_Q9BY89 1806 196711 8.69 0 Cytoskeleton NA PE1 22 +NX_Q9BYB0 1731 184667 8.99 0 Cytoplasm;Postsynaptic density;Dendritic spine Phelan-McDermid syndrome;Schizophrenia 15 PE1 22 +NX_Q9BYB4 327 35618 8.27 0 Cytosol NA PE1 22 +NX_Q9BYC2 517 56140 6.73 0 Mitochondrion NA PE1 1 +NX_Q9BYC5 575 66516 7.36 1 Cytosol;Golgi stack membrane;Golgi apparatus NA PE1 14 +NX_Q9BYC8 188 21405 9.78 0 Mitochondrion NA PE1 7 +NX_Q9BYC9 149 17443 10.87 0 Mitochondrion;Mitochondrion NA PE1 1 +NX_Q9BYD1 178 20692 9.18 0 Mitochondrion NA PE1 8 +NX_Q9BYD2 267 30243 10.09 0 Mitochondrion;Mitochondrion NA PE1 1 +NX_Q9BYD3 311 34919 9.73 0 Mitochondrion NA PE1 19 +NX_Q9BYD5 112 12376 5.7 0 Cytoplasm;Cytoskeleton;Cytoskeleton NA PE1 19 +NX_Q9BYD6 325 36909 8.88 0 Mitochondrion;Mitochondrion NA PE1 4 +NX_Q9BYD9 372 41008 5.53 0 Nucleoplasm;Cytoskeleton;Cytoplasm;Nucleus NA PE1 3 +NX_Q9BYE0 225 24899 10.49 0 Nucleoplasm;Nucleus;Nucleolus Spondylocostal dysostosis 4, autosomal recessive PE1 17 +NX_Q9BYE2 586 63153 8.96 1 Membrane NA PE1 11 +NX_Q9BYE3 92 9444 9.03 0 NA NA PE1 1 +NX_Q9BYE4 73 8158 8.3 0 Cytoplasm NA PE1 1 +NX_Q9BYE7 350 39047 4.92 0 Nucleus NA PE1 10 +NX_Q9BYE9 1310 141543 4.31 1 Apical cell membrane;Microvillus membrane;Cell junction NA PE1 5 +NX_Q9BYF1 805 92463 5.36 1 Cytoplasm;Cell membrane;Secreted NA PE1 X +NX_Q9BYG0 378 44053 8 1 Golgi apparatus membrane;Nucleolus NA PE1 3 +NX_Q9BYG3 293 34222 9.88 0 Nucleolus;Nucleus;Nucleolus;Nucleolus;Chromosome NA PE1 2 +NX_Q9BYG4 376 40883 8.36 0 Cytoplasm;Cell membrane;Tight junction;Cell membrane NA PE1 18 +NX_Q9BYG5 372 41182 5.37 0 Cytoplasm;Cell membrane;Tight junction;Cytosol NA PE1 20 +NX_Q9BYG7 248 29054 9.93 0 Nucleolus NA PE2 18 +NX_Q9BYG8 508 57692 5.55 0 Cytosol;Cell membrane;Mitochondrion NA PE1 8 +NX_Q9BYH1 1024 111782 4.68 1 Endoplasmic reticulum membrane NA PE1 22 +NX_Q9BYH8 718 78061 6.15 0 Cytosol;Nucleus speckle;Nucleus NA PE1 3 +NX_Q9BYI3 521 57625 8.45 0 Cell membrane;Cytosol;Cytosol;Cell membrane Leukodystrophy, hypomyelinating, 5 PE1 7 +NX_Q9BYJ0 223 24581 9.15 0 Extracellular space NA PE1 4 +NX_Q9BYJ1 711 80543 6.53 0 Cell membrane;Cytosol;Cytoplasm Ichthyosis, congenital, autosomal recessive 3 PE1 17 +NX_Q9BYJ4 488 56864 7.43 0 Nucleolus;Centrosome;Cytoplasm NA PE1 11 +NX_Q9BYJ9 559 60874 8.86 0 Cytoplasm NA PE1 20 +NX_Q9BYK8 2649 294651 7.36 0 Nucleus NA PE1 20 +NX_Q9BYL1 202 22770 10.02 0 Nucleoplasm NA PE1 20 +NX_Q9BYM8 510 57572 5.47 0 NA Polyglucosan body myopathy 1 with or without immunodeficiency PE1 20 +NX_Q9BYN0 137 14259 7.92 0 Nucleus;Cytoplasm;Cytoplasm NA PE1 20 +NX_Q9BYN7 854 92728 9.11 0 Cytoplasmic vesicle;Nucleus;Nucleoplasm NA PE1 20 +NX_Q9BYN8 205 24212 10.39 0 Mitochondrion;Mitochondrion NA PE1 20 +NX_Q9BYP7 1800 198416 5.77 0 Cytoplasm;Cytoplasmic vesicle NA PE1 X +NX_Q9BYP8 105 9504 3.83 0 NA NA PE1 17 +NX_Q9BYP9 154 16266 8.22 0 NA NA PE1 17 +NX_Q9BYQ0 159 16723 8.04 0 NA NA PE1 17 +NX_Q9BYQ2 154 16378 7.95 0 NA NA PE1 17 +NX_Q9BYQ3 159 16854 7.93 0 NA NA PE1 17 +NX_Q9BYQ4 174 18287 8.15 0 NA NA PE1 17 +NX_Q9BYQ5 205 21825 8.43 0 NA NA PE1 17 +NX_Q9BYQ6 195 20927 8.4 0 NA NA PE1 17 +NX_Q9BYQ7 146 15241 8.15 0 NA NA PE1 17 +NX_Q9BYQ8 210 22405 8.29 0 NA NA PE2 17 +NX_Q9BYQ9 185 19627 8.21 0 NA NA PE1 17 +NX_Q9BYR0 210 22535 8.31 0 NA NA PE1 17 +NX_Q9BYR2 181 19363 8.25 0 NA NA PE1 17 +NX_Q9BYR3 166 18023 8.39 0 NA NA PE1 17 +NX_Q9BYR4 195 20504 8.43 0 NA NA PE1 17 +NX_Q9BYR5 136 14462 8.31 0 NA NA PE1 17 +NX_Q9BYR6 98 10365 5.4 0 NA NA PE1 17 +NX_Q9BYR7 98 10407 5.4 0 NA NA PE1 17 +NX_Q9BYR8 98 10539 5.99 0 NA NA PE1 17 +NX_Q9BYR9 128 13480 8.32 0 NA NA PE1 17 +NX_Q9BYS1 174 18010 6.59 0 NA NA PE1 17 +NX_Q9BYS8 371 42943 5.79 0 NA NA PE1 3 +NX_Q9BYT1 436 47482 7.96 10 Membrane;Nucleoplasm Porokeratosis 8, disseminated superficial actinic type PE1 20 +NX_Q9BYT3 514 57831 6.6 0 Cytosol;Nucleus;Perinuclear region;Nucleolus NA PE1 11 +NX_Q9BYT5 123 12957 8.26 0 NA NA PE2 17 +NX_Q9BYT8 704 80652 6.21 0 Mitochondrion;Mitochondrion intermembrane space;Cytoplasm NA PE1 5 +NX_Q9BYT9 981 114657 8.87 8 Cell membrane Dystonia 24 PE1 11 +NX_Q9BYU1 374 40854 9.05 0 Nucleus;Cytoplasmic vesicle NA PE1 19 +NX_Q9BYU5 128 13514 8.32 0 NA NA PE2 17 +NX_Q9BYV1 514 57156 8.08 0 Mitochondrion NA PE1 5 +NX_Q9BYV2 358 40301 5.15 0 Cytoskeleton;Z line NA PE1 2 +NX_Q9BYV6 548 60466 4.74 0 Nucleus;Golgi apparatus;Cytosol;Cytoplasm NA PE1 8 +NX_Q9BYV7 579 65674 8.65 0 Mitochondrion NA PE1 11 +NX_Q9BYV8 373 41368 8.46 0 Centrosome;Cilium;Cilium basal body Joubert syndrome 15 PE1 7 +NX_Q9BYV9 841 92537 5 0 Nucleus;Cytosol;Cytoplasm;Nucleus NA PE1 6 +NX_Q9BYW1 496 53703 8.57 12 Cell junction;Cell membrane;Nucleus NA PE2 22 +NX_Q9BYW2 2564 287597 5.8 0 Nucleus;Cytosol;Nucleus speckle;Chromosome Luscan-Lumish syndrome;Renal cell carcinoma;Leukemia, acute lymphoblastic;Leukemia, acute myelogenous PE1 3 +NX_Q9BYW3 111 12174 9.47 0 Secreted NA PE1 20 +NX_Q9BYX2 928 105414 6.15 0 Cytosol;Nucleus;Cytoplasm;Cytoplasmic vesicle;Cell junction NA PE1 9 +NX_Q9BYX4 1025 116689 5.38 0 Nucleus;Cytoplasm Diabetes mellitus, insulin-dependent, 19;Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1 PE1 2 +NX_Q9BYX7 375 42016 5.91 0 Cytoskeleton NA PE5 2 +NX_Q9BYZ2 381 41943 8.88 0 NA NA PE1 15 +NX_Q9BYZ6 727 82626 6.27 0 Cell membrane NA PE1 8 +NX_Q9BYZ8 158 18230 9.33 0 Secreted NA PE1 1 +NX_Q9BZ11 813 87739 6.54 1 Cell membrane;Nucleus speckle;Membrane Asthma PE1 20 +NX_Q9BZ19 345 37630 9.2 0 NA NA PE4 20 +NX_Q9BZ23 570 62681 9.39 0 Cytosol;Mitochondrion;Cytoplasm Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration;Neurodegeneration with brain iron accumulation 1 PE1 20 +NX_Q9BZ29 2069 236446 7.25 0 Endomembrane system NA PE1 13 +NX_Q9BZ67 464 51218 5.83 0 Nucleus;Nucleolus;Cytosol NA PE1 11 +NX_Q9BZ68 369 41136 5.54 0 NA NA PE5 X +NX_Q9BZ71 974 106781 6.69 0 Endomembrane system;Cell membrane Cone-rod dystrophy 5 PE1 17 +NX_Q9BZ72 1349 148933 6.72 0 Cytoplasmic vesicle;Endomembrane system NA PE1 12 +NX_Q9BZ76 1288 140690 8.02 1 Cell membrane;Secreted NA PE1 9 +NX_Q9BZ81 275 31906 7.56 0 NA NA PE2 X +NX_Q9BZ95 1437 161613 8.57 0 Mitochondrion;Nucleoplasm;Nucleus;Chromosome NA PE1 8 +NX_Q9BZ97 58 6256 4.45 1 Membrane NA PE5 Y +NX_Q9BZ98 90 10490 9.55 0 NA NA PE5 Y +NX_Q9BZA0 68 7782 9.63 0 NA NA PE5 Y +NX_Q9BZA5 131 14632 5.22 0 NA NA PE5 Y +NX_Q9BZA7 1347 147558 5.04 1 Cell membrane NA PE1 X +NX_Q9BZA8 1340 146775 5.03 1 Cell membrane NA PE1 Y +NX_Q9BZB8 566 62595 7.55 0 Synapse;Membrane;Cytoplasmic granule;P-body;Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Postsynaptic density;Nucleus;Dendrite NA PE1 15 +NX_Q9BZC1 486 51966 8.11 0 Nucleus;Cytoplasm NA PE1 18 +NX_Q9BZC7 2435 269873 6.38 14 Endosome membrane;Lysosome membrane NA PE1 9 +NX_Q9BZD2 475 51815 7.95 11 Late endosome membrane;Lysosome membrane;Cytoplasmic vesicle;Membrane;Golgi apparatus Histiocytosis-lymphadenopathy plus syndrome PE1 10 +NX_Q9BZD3 368 41713 6.36 0 NA NA PE5 4 +NX_Q9BZD4 464 54304 8.41 0 Nucleus;Kinetochore;Nucleus NA PE1 1 +NX_Q9BZD6 226 25403 7.08 1 Golgi apparatus;Membrane NA PE1 11 +NX_Q9BZD7 231 25875 5.75 1 Membrane NA PE2 X +NX_Q9BZE0 524 55689 9.08 0 Cytosol;Cell membrane;Nucleoplasm;Cytoplasm;Nucleus speckle Nephronophthisis 7 PE1 16 +NX_Q9BZE1 423 48117 8.83 0 Cytoplasm;Mitochondrion;Mitochondrion;Mitochondrion NA PE1 1 +NX_Q9BZE2 481 55647 7.2 0 Nucleus;Nucleus;Cytosol Mental retardation, autosomal recessive 55 PE1 11 +NX_Q9BZE3 327 35074 9.05 0 Nucleus NA PE2 9 +NX_Q9BZE4 634 73964 9.52 0 Nucleolus;Nucleolus;Nucleus membrane NA PE1 10 +NX_Q9BZE7 217 24956 9.83 0 NA NA PE1 22 +NX_Q9BZE9 553 60183 6.23 0 Cytoplasmic vesicle;Endomembrane system;Endoplasmic reticulum-Golgi intermediate compartment membrane;Nucleoplasm;Cell membrane;Cytoplasm;Nucleus NA PE1 17 +NX_Q9BZF1 889 101196 6.52 1 Cell membrane;Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum membrane;Nucleus membrane NA PE1 12 +NX_Q9BZF2 842 95432 8.31 0 Cytosol;Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Cell membrane NA PE1 17 +NX_Q9BZF3 934 106306 6.48 0 Cell membrane;Nucleus envelope;Endoplasmic reticulum membrane;Cytosol;Cell membrane NA PE1 2 +NX_Q9BZF9 1416 162505 6.6 0 Cytosol;Cytoskeleton;Cytoplasm;Nucleus;Nucleus NA PE1 15 +NX_Q9BZG1 259 29044 8.07 0 Phagosome;Cytoplasm;Golgi apparatus;Phagosome membrane NA PE1 17 +NX_Q9BZG2 426 46090 8.45 1 Membrane Amelogenesis imperfecta 1J PE1 19 +NX_Q9BZG8 443 48805 8.47 0 Nucleoplasm;Cytoplasm;Cell junction;Nucleus Developmental delay with short stature, dysmorphic features, and sparse hair PE1 17 +NX_Q9BZH6 1224 136685 6.48 1 Cytosol;Nucleus;Cytoskeleton;Membrane;Cytoplasm Hypogonadotropic hypogonadism 14 with or without anosmia PE1 10 +NX_Q9BZI1 471 49129 5.14 0 Nucleus;Nucleus;Nucleolus NA PE1 5 +NX_Q9BZI7 483 57762 9.48 0 Nucleus;Cytoplasm;Nucleus;Nucleolus;Cytosol Mental retardation, X-linked, syndromic, 14 PE1 X +NX_Q9BZJ0 848 100452 8.1 0 Cytoplasm;Nucleus speckle NA PE1 20 +NX_Q9BZJ3 242 26584 5.51 0 Secreted NA PE1 16 +NX_Q9BZJ4 359 39249 9.68 6 Mitochondrion;Mitochondrion inner membrane NA PE1 17 +NX_Q9BZJ6 419 47578 9.6 7 Cytosol;Cell membrane;Nucleus;Cell membrane NA PE2 6 +NX_Q9BZJ7 368 37614 10.86 7 Cell membrane NA PE2 3 +NX_Q9BZJ8 451 49292 6.19 7 Cell membrane NA PE1 1 +NX_Q9BZK3 213 23306 4.53 0 NA NA PE5 8 +NX_Q9BZK7 514 55595 5.28 0 Nucleus;Nucleoplasm Mental retardation, autosomal dominant 41;Pierpont syndrome PE1 3 +NX_Q9BZK8 76 8369 8.97 0 NA NA PE4 1 +NX_Q9BZL1 73 8547 8.58 0 Cytoplasm NA PE1 19 +NX_Q9BZL3 60 6593 6.69 1 Cytoplasmic vesicle;Membrane NA PE1 5 +NX_Q9BZL4 782 84881 5.44 0 Cytoplasm NA PE1 19 +NX_Q9BZL6 878 96750 6.39 0 Cytosol;Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;trans-Golgi network NA PE1 19 +NX_Q9BZM1 189 21067 6.95 0 Secreted;Cytoplasm NA PE1 4 +NX_Q9BZM2 168 18658 5.09 0 Secreted NA PE1 1 +NX_Q9BZM3 304 32031 9.22 0 Nucleus NA PE2 4 +NX_Q9BZM4 244 27949 8.2 0 Cytoplasmic vesicle;Microtubule organizing center;Cell membrane NA PE1 6 +NX_Q9BZM5 246 27368 6.93 0 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane;Cell membrane;Secreted NA PE1 6 +NX_Q9BZM6 244 27997 7.07 0 Cell membrane;Endoplasmic reticulum;Cytoskeleton;Cell membrane;Cytosol NA PE1 6 +NX_Q9BZP3 86 9646 4.99 0 NA NA PE5 18 +NX_Q9BZP6 476 52271 5.54 0 Secreted;Cytoplasm NA PE1 1 +NX_Q9BZQ2 653 72632 5.2 0 Spindle NA PE1 1 +NX_Q9BZQ4 307 34439 6.59 0 Cytoplasm;Golgi apparatus NA PE1 1 +NX_Q9BZQ6 932 104664 4.82 0 Endoplasmic reticulum lumen;Endoplasmic reticulum NA PE1 1 +NX_Q9BZQ8 928 103135 4.74 0 Cytosol;Membrane;Cytoplasm;Cell membrane NA PE1 1 +NX_Q9BZR6 473 50708 9.22 0 Endoplasmic reticulum;Perikaryon;Cell membrane;Membrane raft;Dendrite;Cell membrane;Cytoskeleton;Focal adhesion;Axon Schizophrenia PE1 22 +NX_Q9BZR8 327 36598 6.17 0 Cytosol;Endomembrane system;Cytoplasm;Cytosol NA PE1 12 +NX_Q9BZR9 551 61489 7.26 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol NA PE1 10 +NX_Q9BZS1 431 47244 9.52 0 Nucleoplasm;Nucleus;Cytoplasm Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome PE1 X +NX_Q9BZS9 49 5619 5.91 0 NA NA PE5 7 +NX_Q9BZV1 441 49754 6.46 0 Golgi apparatus;Lysosome membrane;Late endosome membrane;Cytosol;Centrosome;Nucleus;Membrane;Cytoplasm;Early endosome membrane;Cytosol NA PE1 19 +NX_Q9BZV2 496 55665 6.01 12 Nucleoplasm;Cytosol;Membrane Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type PE1 2 +NX_Q9BZV3 1241 138621 4.52 1 Membrane Macular dystrophy, vitelliform, 5;Retinitis pigmentosa 56 PE1 3 +NX_Q9BZW2 595 66134 8.35 13 Membrane NA PE1 7 +NX_Q9BZW4 377 42554 7.95 9 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane NA PE1 19 +NX_Q9BZW5 370 41636 7.55 9 Lysosome membrane;Cytoskeleton NA PE1 15 +NX_Q9BZW7 698 81421 5.73 0 Nucleus membrane;Nucleus;Cytoplasm;Cytosol NA PE1 2 +NX_Q9BZW8 370 41616 9.14 1 Cell membrane;Membrane NA PE1 1 +NX_Q9BZX2 261 29299 6.24 0 Nucleus NA PE1 1 +NX_Q9BZX4 212 23964 5.11 0 Flagellum NA PE1 3 +NX_Q9BZY9 425 48244 7.55 0 Cytoplasm;Mitochondrion NA PE1 6 +NX_Q9BZZ2 1709 182624 6.15 1 Secreted;Cell membrane NA PE1 20 +NX_Q9BZZ5 524 59005 6.99 0 Nucleus speckle;Nucleus;Cytoplasm NA PE1 11 +NX_Q9C000 1473 165866 6.39 0 Nucleoplasm;Cytosol;Cytoplasm;Cytosol;Nucleus;Inflammasome Vitiligo-associated multiple autoimmune disease 1;Autoinflammation with arthritis and dyskeratosis;Palmoplantar carcinoma, multiple self-healing PE1 17 +NX_Q9C002 83 9617 9.45 0 Mitochondrion;Nucleus NA PE1 15 +NX_Q9C004 299 32541 8.25 0 Cytoplasm;Ruffle membrane Hypogonadotropic hypogonadism 17 with or without anosmia PE1 5 +NX_Q9C005 99 11250 4.84 0 Nucleoplasm;Golgi apparatus;trans-Golgi network;Nucleus NA PE1 2 +NX_Q9C009 403 41526 9.52 0 Nucleus;Nucleus NA PE1 6 +NX_Q9C010 78 8468 4.76 0 NA NA PE1 6 +NX_Q9C019 465 52113 5.4 0 NA NA PE1 6 +NX_Q9C026 710 79177 6.4 0 Cytosol;Cytoplasm;Dendrite;Synaptic vesicle;Cytoskeleton;Synapse NA PE1 14 +NX_Q9C029 511 56631 7.81 0 Cytoplasmic vesicle;Nucleoplasm;Cytosol NA PE1 5 +NX_Q9C030 488 56400 7.5 0 Cytoplasm NA PE1 11 +NX_Q9C035 493 56338 5.73 0 Cytosol;P-body;Nucleus;Cytoplasm NA PE1 11 +NX_Q9C037 500 57461 8.4 0 Cytosol;Cytoplasm;Cell membrane NA PE1 7 +NX_Q9C040 744 81530 6.51 0 Cytoplasm;Centrosome Charcot-Marie-Tooth disease 2R PE1 4 +NX_Q9C056 277 29263 9.71 0 Nucleus Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy PE1 10 +NX_Q9C073 453 48319 8.67 0 Nucleoplasm NA PE1 17 +NX_Q9C075 422 48131 6.09 0 Cytoskeleton;Cytosol NA PE1 17 +NX_Q9C086 356 38637 9.66 0 Cell membrane;Cytosol;Nucleus;Nucleus;Nucleolus NA PE1 2 +NX_Q9C091 1923 214354 6.18 1 Membrane;Mitochondrion;Nucleolus NA PE1 18 +NX_Q9C093 1822 209811 5.4 0 NA NA PE1 5 +NX_Q9C098 648 73814 9 0 Nucleus;Cytoplasm NA PE2 3 +NX_Q9C099 1032 119596 5.62 0 Centriole NA PE1 8 +NX_Q9C0A0 1308 145274 6.22 1 Presynaptic cell membrane NA PE1 16 +NX_Q9C0A1 2572 274176 5.59 0 Nucleolus;Nucleus;Nucleus NA PE1 14 +NX_Q9C0A6 1442 157515 8.74 0 Cytosol;Nucleus;Nucleus Mental retardation, autosomal dominant 23 PE1 3 +NX_Q9C0B0 810 88084 6.4 0 Cytosol;Cytoplasm;Cytosol NA PE1 17 +NX_Q9C0B1 505 58282 5.1 0 Cytosol;Nucleus;Nucleus speckle;Cytoplasmic vesicle Obesity;Growth retardation, developmental delay, and facial dysmorphism PE1 16 +NX_Q9C0B2 1584 178589 6.01 0 Cilium axoneme NA PE1 1 +NX_Q9C0B5 715 77545 9.17 4 Cytosol;Cell membrane;Nucleoplasm;Cell membrane;Cell junction NA PE1 11 +NX_Q9C0B6 783 89005 8.18 0 Nucleolus;Secreted;Cytoplasmic vesicle NA PE1 1 +NX_Q9C0B7 1094 120748 5.75 1 Cytosol;Golgi apparatus;Membrane NA PE1 16 +NX_Q9C0B9 1178 125936 6.55 0 Nucleolus;Nucleus;Cytosol NA PE1 18 +NX_Q9C0C2 1729 181796 4.77 0 Nucleus;Cytoskeleton;Chromosome NA PE1 11 +NX_Q9C0C4 833 92623 6.92 1 Synaptic vesicle membrane;Postsynaptic density NA PE1 2 +NX_Q9C0C6 399 42692 9.08 0 Cytosol;Nucleus;Cytosol;Nucleus;Nucleolus NA PE1 14 +NX_Q9C0C7 1298 142507 6.73 0 Autophagosome;Mitochondrion;Cytoplasmic vesicle NA PE1 11 +NX_Q9C0C9 1292 141293 5.01 0 Nucleus;Cytoplasm;Nucleus;Nucleus NA PE1 17 +NX_Q9C0D0 580 66308 6.51 0 Cytoplasm;Synapse;Cell membrane;Nucleus NA PE1 6 +NX_Q9C0D2 2601 295176 5.68 0 Cell membrane;Cytosol;Centrosome;Centriole NA PE1 11 +NX_Q9C0D3 744 83921 6.38 0 Golgi apparatus;Cytoskeleton NA PE1 1 +NX_Q9C0D4 1074 119531 9.52 0 Nucleus;Nucleus NA PE1 4 +NX_Q9C0D5 1861 202219 8.63 0 Postsynaptic density NA PE1 2 +NX_Q9C0D6 1143 124762 9.17 0 NA NA PE1 4 +NX_Q9C0D7 883 99340 6.48 0 Golgi apparatus;Nucleus membrane NA PE1 11 +NX_Q9C0D9 397 45229 6.12 10 Membrane NA PE1 2 +NX_Q9C0E2 1151 130139 4.95 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA PE1 13 +NX_Q9C0E4 1043 112501 6.06 0 Cytosol;Membrane;Cytoplasm NA PE1 3 +NX_Q9C0E8 428 47740 5.07 2 Nucleoplasm;Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 2 +NX_Q9C0F0 2248 241919 5.8 0 Nucleus Bainbridge-Ropers syndrome PE2 18 +NX_Q9C0F1 390 44140 5.13 0 Centrosome;Spindle pole;Midbody NA PE1 4 +NX_Q9C0F3 470 54277 6.75 0 Cytosol;Nucleoplasm;Nucleus NA PE1 1 +NX_Q9C0G0 2248 247367 6.05 0 Cell membrane;Nucleus;Nucleoplasm NA PE1 18 +NX_Q9C0G6 4158 475983 5.72 0 Cilium axoneme NA PE1 2 +NX_Q9C0H2 523 57545 5.19 5 Cell membrane NA PE1 7 +NX_Q9C0H5 1083 121286 7.3 0 Nucleus;Nucleoplasm;Cytoskeleton;Cytosol;Cytoskeleton NA PE1 8 +NX_Q9C0H6 718 80245 6.39 0 Cytoskeleton;Cytoskeleton;Microtubule organizing center NA PE1 X +NX_Q9C0H9 1055 112453 9.32 0 Cell junction;Cytoplasm;Axon;Cytoskeleton;Dendrite;Synapse;Postsynaptic density NA PE1 17 +NX_Q9C0I1 747 86148 6.17 0 Cytoplasm NA PE1 5 +NX_Q9C0I3 900 99510 7.88 0 NA NA PE1 4 +NX_Q9C0I4 1608 179402 7.93 1 Nucleoplasm;Membrane;Cytosol NA PE1 2 +NX_Q9C0I9 530 60089 9.62 0 Golgi apparatus;Nucleus NA PE2 10 +NX_Q9C0J1 378 42310 9.44 1 Golgi apparatus membrane;Mitochondrion;Nucleolus NA PE1 12 +NX_Q9C0J8 1336 145891 9.24 0 Nucleoplasm;Nucleus;Nucleolus NA PE1 2 +NX_Q9C0J9 482 50498 6.95 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q9C0K0 894 95519 6.1 0 Nucleus;Nucleolus;Nucleus Immunodeficiency 49 PE1 14 +NX_Q9C0K1 460 49631 5.71 8 Membrane Congenital disorder of glycosylation 2N PE1 4 +NX_Q9C0K3 210 23712 5.36 0 NA NA PE2 7 +NX_Q9C0K7 418 47026 6.52 0 Cytosol;Nucleus;Cytoplasm NA PE1 2 +NX_Q9GIP4 190 19840 6.72 3 Membrane NA PE5 16 +NX_Q9GIY3 266 30139 8.22 1 Endoplasmic reticulum membrane;Late endosome membrane;Cell membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane NA PE1 6 +NX_Q9GZK3 357 40412 8.61 7 Cell membrane NA PE2 6 +NX_Q9GZK4 316 35339 9.02 7 Cell membrane NA PE2 6 +NX_Q9GZK6 312 35454 8.31 7 Cell membrane NA PE3 6 +NX_Q9GZK7 315 35250 8.05 7 Cell membrane NA PE2 6 +NX_Q9GZL7 423 47708 5.57 0 Nucleus;Nucleolus;Cell membrane;Nucleolus;Nucleoplasm;Nucleolus;Cytosol NA PE1 2 +NX_Q9GZL8 116 12676 4.52 0 NA NA PE2 3 +NX_Q9GZM3 115 13088 6.28 0 Nucleus NA PE1 7 +NX_Q9GZM5 350 38248 5.47 5 Endoplasmic reticulum;Nucleoplasm;Golgi apparatus;Cell membrane;Cytoplasm;cis-Golgi network membrane NA PE1 6 +NX_Q9GZM6 311 34857 8.37 7 Cell membrane NA PE2 11 +NX_Q9GZM7 467 52387 6.54 0 Secreted NA PE1 1 +NX_Q9GZM8 345 38375 5.16 0 Centrosome;Kinetochore;Spindle;Cytoskeleton NA PE1 17 +NX_Q9GZN0 384 40246 9.8 7 Cell membrane;Cytoplasm;Nucleus Chorea, childhood-onset, with psychomotor retardation PE2 1 +NX_Q9GZN1 396 45810 4.92 0 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA PE1 12 +NX_Q9GZN2 237 25878 7.77 0 Nucleoplasm;Nucleus NA PE1 20 +NX_Q9GZN4 317 33732 7.55 0 Nucleoplasm;Secreted NA PE1 16 +NX_Q9GZN6 736 82200 8.59 12 Golgi apparatus;Membrane NA PE1 19 +NX_Q9GZN7 287 32254 8.3 0 Cytoplasm;Nucleus;Nucleus envelope Kohlschuetter-Toenz syndrome PE1 16 +NX_Q9GZN8 174 19291 6.34 0 Nucleoplasm;Cytosol NA PE1 20 +NX_Q9GZP0 370 42848 8.28 0 Secreted;Golgi apparatus;Cytoplasmic vesicle NA PE1 11 +NX_Q9GZP1 204 21983 4.69 2 Cell membrane;Golgi apparatus;Nucleoplasm;Cytosol;Cytoplasmic vesicle;Membrane NA PE1 20 +NX_Q9GZP4 211 24178 5.47 0 NA NA PE1 1 +NX_Q9GZP7 353 40021 9.46 7 Cytoplasmic vesicle;Cell membrane;Nucleus NA PE2 19 +NX_Q9GZP8 106 10897 9.73 0 Nucleus;Nucleus;Cytosol;Nucleus;Cell membrane NA PE1 19 +NX_Q9GZP9 239 27567 6.73 4 Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 17 +NX_Q9GZQ3 224 24670 6.52 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus NA PE1 8 +NX_Q9GZQ4 415 47696 8.96 7 Cell membrane NA PE1 5 +NX_Q9GZQ6 430 47819 9.54 7 Cell membrane NA PE2 10 +NX_Q9GZQ8 125 14688 8.89 0 Nucleus;Cytoplasm;Autophagosome;Cytoskeleton;Endomembrane system;Autophagosome membrane NA PE1 16 +NX_Q9GZR1 1112 126146 6.3 0 Cytosol;Nucleoplasm;Nucleus NA PE1 6 +NX_Q9GZR2 422 46672 9.79 0 Nucleus;Nucleolus;Nucleus;Nucleolus NA PE1 9 +NX_Q9GZR5 314 36829 9.49 7 Endoplasmic reticulum membrane Spinocerebellar ataxia 34;Stargardt disease 3;Ichthyosis, spastic quadriplegia, and mental retardation PE1 6 +NX_Q9GZR7 859 96332 9.14 0 Nucleus;Nucleolus;Cytosol NA PE1 14 +NX_Q9GZS0 605 68821 4.68 0 Cilium axoneme Ciliary dyskinesia, primary, 9 PE1 17 +NX_Q9GZS1 481 53962 8.8 0 Nucleus;Nucleolus;Nucleolus NA PE1 9 +NX_Q9GZS3 305 33581 5.16 0 Cytosol;Nucleus;Cytoplasm;Nucleoplasm NA PE1 15 +NX_Q9GZS9 411 46161 10.07 1 Golgi apparatus membrane NA PE1 16 +NX_Q9GZT3 109 12349 10.26 0 Mitochondrion;Mitochondrion;Nucleus NA PE1 14 +NX_Q9GZT4 340 36566 6.11 0 Cytoplasmic vesicle NA PE1 17 +NX_Q9GZT5 417 46444 9.38 0 Extracellular matrix Tooth agenesis, selective, 4;Schopf-Schulz-Passarge syndrome;Odonto-onycho-dermal dysplasia PE1 2 +NX_Q9GZT6 254 29506 6.99 1 Mitochondrion;Mitochondrion;Mitochondrion membrane NA PE1 11 +NX_Q9GZT8 377 41968 6.19 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 2 +NX_Q9GZT9 426 46021 8.83 0 Cytoplasm;Cytosol;Nucleus Erythrocytosis, familial, 3 PE1 1 +NX_Q9GZU0 229 27083 9.05 0 Nucleus;Cytoplasm;Cytosol NA PE1 6 +NX_Q9GZU1 580 65022 6.9 6 Cell membrane;Cytosol;Late endosome membrane;Lysosome membrane;Phagocytic cup;Phagosome membrane;Cell membrane Mucolipidosis 4 PE1 19 +NX_Q9GZU2 1588 180827 5.31 0 Nucleus;Nucleoplasm;Cytoplasm NA PE1 19 +NX_Q9GZU3 492 56274 9.51 8 Cytoplasmic vesicle;Membrane NA PE1 1 +NX_Q9GZU5 481 52000 9.1 0 Extracellular matrix Night blindness, congenital stationary, 1A PE1 X +NX_Q9GZU7 261 29203 5.62 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q9GZU8 254 28912 5.38 0 Nucleus;Nucleus;Cytoplasmic vesicle;Nucleoplasm NA PE1 16 +NX_Q9GZV1 360 39859 5.72 0 Cytoplasmic vesicle;Nucleus;PML body;I band;Cytosol NA PE1 10 +NX_Q9GZV3 580 63204 5 13 Membrane;Cytoskeleton;Cell membrane;Nucleus;Synapse;Cell junction Myasthenic syndrome, congenital, 20, presynaptic;Neuronopathy, distal hereditary motor, 7A PE1 2 +NX_Q9GZV4 153 16793 5.38 0 Cytoplasm;Nucleus;Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nuclear pore complex NA PE1 3 +NX_Q9GZV5 400 44101 5.49 0 Cytosol;Nucleus;Nucleoplasm;Cytoplasm;Nucleus NA PE1 3 +NX_Q9GZV7 340 37775 9.12 0 Extracellular matrix NA PE1 1 +NX_Q9GZV8 571 64062 6.65 0 Nucleus;Nucleoplasm NA PE1 8 +NX_Q9GZV9 251 27954 9.17 0 Secreted Tumoral calcinosis, hyperphosphatemic, familial;Hypophosphatemic rickets, autosomal dominant PE1 12 +NX_Q9GZW5 306 34217 10.67 0 Nucleus NA PE5 15 +NX_Q9GZW8 240 26131 6.17 4 Membrane NA PE2 11 +NX_Q9GZX3 395 44099 10.03 1 Golgi apparatus membrane Macular dystrophy, corneal PE1 16 +NX_Q9GZX5 532 60011 8.92 0 Nucleoplasm;Nucleus;Nucleus;Nucleus matrix NA PE1 19 +NX_Q9GZX6 179 20011 7.65 0 Secreted NA PE1 12 +NX_Q9GZX7 198 23954 9.5 0 Cytoplasm;Nucleus;Cytoplasm Immunodeficiency with hyper-IgM 2 PE1 12 +NX_Q9GZX9 223 25017 5.17 0 Cytosol;Centrosome;Secreted NA PE1 18 +NX_Q9GZY0 626 71627 7.74 0 Nucleoplasm;Cytoplasm NA PE1 X +NX_Q9GZY1 135 15722 9.77 0 Cytoplasm;Nucleus NA PE2 6 +NX_Q9GZY4 146 16694 8.76 1 Mitochondrion inner membrane;Mitochondrion NA PE1 7 +NX_Q9GZY6 243 26550 4.69 1 Cell membrane NA PE1 7 +NX_Q9GZY8 342 38465 9.01 1 Mitochondrion outer membrane;Mitochondrion;Peroxisome;Synaptic vesicle Encephalopathy due to defective mitochondrial and peroxisomal fission 2 PE1 2 +NX_Q9GZZ0 328 34093 9.15 0 Nucleus;Nucleoplasm NA PE1 2 +NX_Q9GZZ1 169 19398 8.96 0 Cytoplasm;Cytoplasm;Nucleus NA PE1 3 +NX_Q9GZZ6 450 49705 8.2 4 Postsynaptic cell membrane;Cell membrane NA PE1 11 +NX_Q9GZZ7 299 31670 10.47 0 Secreted;Cell membrane NA PE1 20 +NX_Q9GZZ8 138 14246 5.44 0 Secreted NA PE1 12 +NX_Q9GZZ9 404 44863 4.79 0 Cytoplasm;Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol Spinocerebellar ataxia, autosomal recessive, 24;Epileptic encephalopathy, early infantile, 44 PE1 3 +NX_Q9H000 416 46940 7.73 0 Cytoplasm;Cytosol;Nucleoplasm NA PE1 3 +NX_Q9H008 270 29165 5.8 0 Nucleus speckle;Cytosol;Cytoplasm;Nucleus NA PE1 10 +NX_Q9H009 215 23223 4.68 0 Cytoplasm;Nucleus NA PE1 17 +NX_Q9H013 955 104997 8.75 1 Membrane;Cytoplasmic vesicle NA PE1 5 +NX_Q9H015 551 62155 6.85 12 Cytosol;Nucleoplasm;Membrane Rheumatoid arthritis PE1 5 +NX_Q9H019 292 31957 5.77 0 Cytoplasm;Cell junction;Mitochondrion NA PE1 1 +NX_Q9H040 489 55134 8.38 0 Nucleus;Nucleoplasm;Chromosome;Nucleus Ruijs-Aalfs syndrome PE1 1 +NX_Q9H061 195 21527 9.36 4 Mitochondrion;Nucleus;Mitochondrion inner membrane;Cytosol Optic atrophy 7 with or without auditory neuropathy PE1 11 +NX_Q9H063 256 28771 4.47 0 Nucleus;Cytoplasm;Nucleolus;Nucleus;Nucleus;Cytoplasmic vesicle;Cytoplasm NA PE1 8 +NX_Q9H069 523 61054 4.68 0 Cytoplasm;Cilium axoneme NA PE1 17 +NX_Q9H074 479 53525 4.71 0 Cytosol;Cell membrane;Cytoplasm NA PE1 5 +NX_Q9H078 707 78729 9.13 0 Mitochondrion 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia PE1 11 +NX_Q9H079 304 34767 9.18 0 Nucleus;Spindle;Nucleus;Nucleus;Spindle pole;Midbody NA PE1 15 +NX_Q9H081 205 24140 5.5 0 Nucleus;Kinetochore NA PE1 17 +NX_Q9H082 229 25718 6.7 0 Golgi apparatus;Golgi apparatus membrane;cis-Golgi network Smith-McCort dysplasia 2 PE1 4 +NX_Q9H089 658 75225 5.96 0 Endoplasmic reticulum;Cytosol;Cytoplasm;Nucleus;Nucleus;Endoplasmic reticulum;Cajal body NA PE1 3 +NX_Q9H091 742 81860 6.38 0 Cytosol;Nucleus speckle;Nucleus;Cytoplasm Spermatogenic failure 14 PE1 17 +NX_Q9H093 628 69612 9.01 0 Nucleus;Nucleus;Nucleolus;Cytosol NA PE1 1 +NX_Q9H094 633 72951 4.4 0 Cytoplasm;Cytoplasm NA PE2 1 +NX_Q9H095 443 51918 6.18 0 Cytosol;Cytoskeleton;Cytoplasm;Flagellum;Cilium;Cytoskeleton NA PE1 3 +NX_Q9H098 131 15558 7.89 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 10 +NX_Q9H0A0 1025 115730 8.5 0 Nucleolus;Nucleolus;Midbody NA PE1 11 +NX_Q9H0A3 160 17963 8.95 1 Membrane NA PE2 22 +NX_Q9H0A6 362 41516 9.15 0 Cell membrane;Cytoplasm NA PE1 7 +NX_Q9H0A8 199 21764 6.89 0 Cytoplasm;Cell membrane;Nucleus;Nucleus;Cytoplasm NA PE1 15 +NX_Q9H0A9 340 37613 7.05 0 Nucleus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol NA PE1 21 +NX_Q9H0B3 1180 127693 10.25 0 Mitochondrion NA PE1 19 +NX_Q9H0B6 622 68935 6.72 0 Cytoplasm;Cell membrane;Cytoskeleton;Nucleoplasm;Cytosol Spastic paraplegia, optic atrophy, and neuropathy PE1 11 +NX_Q9H0B8 497 55920 8.36 0 Golgi apparatus;Secreted;Cytosol;Nucleoplasm NA PE1 16 +NX_Q9H0C1 365 41818 5.82 0 Nucleus;Cytoplasm NA PE1 1 +NX_Q9H0C2 315 35022 9.91 6 Mitochondrion;Mitochondrion inner membrane;Flagellum NA PE1 4 +NX_Q9H0C3 514 60185 8.67 8 Endoplasmic reticulum;Cell membrane NA PE1 12 +NX_Q9H0C5 482 52771 5.79 0 Cytoplasm;P-body NA PE1 15 +NX_Q9H0C8 392 42907 6.68 0 Nucleoplasm;Cytoplasm NA PE1 2 +NX_Q9H0D2 1346 145587 8.28 0 Cytosol;Nucleus;Nucleoplasm NA PE1 19 +NX_Q9H0D6 950 108582 7.26 0 Nucleolus;Nucleolus;Nucleus NA PE1 20 +NX_Q9H0E2 274 30282 5.68 0 Endosome;Cytoplasm;Cytosol;Cell membrane NA PE1 11 +NX_Q9H0E3 1048 110324 9.83 0 Nucleus;Nucleus speckle;Nucleus NA PE1 2 +NX_Q9H0E7 712 81185 8.21 0 Nucleus;Nucleus;Nucleolus;Cytoskeleton NA PE1 12 +NX_Q9H0E9 1235 135336 4.52 0 Nucleus;Mitochondrion;Nucleoplasm NA PE1 5 +NX_Q9H0F5 515 57595 7.68 0 Nucleus;Nucleoplasm;Nucleus NA PE1 9 +NX_Q9H0F6 387 39949 5.53 0 Cytosol;Synapse;Nucleus;Cytosol NA PE1 8 +NX_Q9H0F7 186 21097 8.72 0 Cilium axoneme;Cilium basal body;Cilium membrane;Nucleoplasm;Cytoplasmic vesicle Bardet-Biedl syndrome 3;Retinitis pigmentosa 55 PE1 3 +NX_Q9H0G5 558 66390 8.9 0 Nucleus;Nucleoplasm;Nucleus;Nucleus speckle NA PE1 17 +NX_Q9H0H0 1204 134323 5.72 1 Nucleus;Cytoplasm;Nucleus membrane;Nucleoplasm;Cytoplasm NA PE1 17 +NX_Q9H0H3 589 65923 6.1 0 Cytoplasm;Nucleoplasm;Cytosol NA PE1 15 +NX_Q9H0H5 632 71027 9.08 0 Nucleus envelope;Nucleus;Nucleoplasm;Midbody ring;Cytoplasm;Spindle;Acrosome;Cleavage furrow;Cell membrane NA PE1 12 +NX_Q9H0H9 118 12413 9.49 0 NA NA PE5 2 +NX_Q9H0I2 346 38759 9.84 0 Cytoskeleton;Cell membrane;Centrosome;Cytosol NA PE1 16 +NX_Q9H0I3 377 44220 8.75 0 Nucleus;Cytoplasm;Cytosol;Centriolar satellite;Nucleoplasm NA PE1 16 +NX_Q9H0I9 626 67877 5.9 0 Cytoplasm NA PE1 4 +NX_Q9H0J4 1663 180827 6.25 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus membrane NA PE1 17 +NX_Q9H0J9 701 79064 8.84 0 Nucleus;Nucleus NA PE1 7 +NX_Q9H0K1 926 103915 5.7 0 Cytoplasm;Golgi apparatus NA PE1 11 +NX_Q9H0K4 717 80913 4.36 0 Nucleus;Cytoplasm NA PE1 19 +NX_Q9H0K6 701 80700 7.31 0 Nucleus;Nucleus speckle NA PE1 12 +NX_Q9H0L4 616 64437 6.79 0 Nucleus;Cytoplasm;Nucleoplasm;Nucleus NA PE1 10 +NX_Q9H0M0 922 105202 5.64 0 Cytoplasm;Golgi apparatus;Cell membrane;Cell membrane;Nucleus;Cytosol NA PE1 8 +NX_Q9H0M4 648 72007 7.47 0 Golgi apparatus NA PE1 7 +NX_Q9H0M5 742 86232 9.15 0 Nucleus NA PE1 19 +NX_Q9H0N0 254 28355 7.58 0 Golgi apparatus;Nucleus;Centrosome;Cytoplasm NA PE1 2 +NX_Q9H0N5 130 14365 9.17 0 Nucleus;Cytoplasm;Cell membrane NA PE1 5 +NX_Q9H0P0 336 37948 6.67 0 Nucleus;Mitochondrion;Endoplasmic reticulum;Cytoplasm;Cytoplasm P5N deficiency PE1 7 +NX_Q9H0P7 198 20949 6.01 0 Cytoplasm NA PE5 6 +NX_Q9H0Q0 323 37313 5.71 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 2 +NX_Q9H0Q3 95 10542 5.05 1 Cell membrane;Membrane;Golgi apparatus NA PE1 11 +NX_Q9H0R1 490 54767 6.17 0 Cytosol;Late endosome membrane;Lysosome membrane NA PE1 14 +NX_Q9H0R3 208 23230 6.04 3 Cytosol;Membrane;Cell membrane NA PE1 1 +NX_Q9H0R4 259 28536 5.84 0 Nucleus;Cytoplasm;Cytoplasmic vesicle NA PE1 18 +NX_Q9H0R5 595 68114 6.11 0 Cytoplasm;Cytoplasm;Perinuclear region;Golgi apparatus membrane NA PE1 1 +NX_Q9H0R6 528 57460 5.47 0 Mitochondrion;Centrosome;Cytoplasmic vesicle NA PE1 6 +NX_Q9H0R8 117 14044 8.67 0 Nucleus;Cytoplasm;Cytoplasmic vesicle membrane;Endoplasmic reticulum;Golgi apparatus;Autophagosome;Cytoskeleton NA PE1 12 +NX_Q9H0S4 455 50647 9.18 0 Nucleus;Nucleolus;Nucleolus NA PE1 12 +NX_Q9H0T7 212 23491 7.7 0 Nucleus;Cytoplasm;Dendrite;Recycling endosome membrane;Melanosome NA PE1 2 +NX_Q9H0U3 335 38037 9.68 4 Endoplasmic reticulum;Cell membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia PE1 X +NX_Q9H0U4 201 22171 5.55 0 Golgi apparatus;Endoplasmic reticulum;Golgi apparatus;Cytoplasm;Membrane;Preautophagosomal structure membrane NA PE1 11 +NX_Q9H0U6 180 20577 9.63 0 Mitochondrion;Mitochondrion NA PE1 6 +NX_Q9H0U9 437 49192 5.36 0 Nucleus;Nucleus;Nucleolus;Nucleolus Sudden infant death with dysgenesis of the testes syndrome PE1 6 +NX_Q9H0V1 697 79755 8.34 11 Golgi apparatus;Membrane NA PE1 7 +NX_Q9H0V9 348 39711 8.55 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Golgi apparatus membrane Mental retardation, autosomal recessive 52 PE1 2 +NX_Q9H0W5 538 59374 8.72 0 Cell membrane;Cytosol;Nucleus;Cell membrane;Cytoplasm;Centrosome 3M syndrome 3 PE1 19 +NX_Q9H0W7 228 26260 10.17 0 Cell membrane;Golgi apparatus;Nucleoplasm;Golgi apparatus NA PE1 12 +NX_Q9H0W8 520 57651 6.52 0 Nucleus;Cytoplasm;Mitochondrion;Cytosol Heart and brain malformation syndrome PE1 19 +NX_Q9H0W9 315 35117 6.23 0 Nucleus;Nucleoplasm;Nucleus;Nucleus NA PE1 11 +NX_Q9H0X4 552 59660 5.84 1 Cell membrane;Membrane;Mitochondrion;Nucleoplasm NA PE1 16 +NX_Q9H0X6 261 27964 7.45 0 Nucleus;Cytoplasm;Cytosol;Nucleoplasm NA PE1 9 +NX_Q9H0X9 879 98616 7.29 1 Endoplasmic reticulum;Cytoplasmic vesicle;Endoplasmic reticulum membrane NA PE1 11 +NX_Q9H0Y0 220 25279 5.35 0 Nucleus;Cytoplasm;Cytoplasm;Nucleolus;Nucleus NA PE1 5 +NX_Q9H0Z9 239 25498 8.76 0 Cytosol;Nucleoplasm;Cytosol;Nucleus NA PE1 20 +NX_Q9H106 197 21687 9.56 0 Secreted NA PE2 20 +NX_Q9H112 138 16506 6.51 0 Nucleus;Cytoplasm NA PE1 20 +NX_Q9H114 145 16989 9.84 0 Secreted NA PE2 20 +NX_Q9H115 298 33557 5.32 0 Membrane NA PE1 20 +NX_Q9H116 711 80492 8.11 0 Nucleoplasm;Nucleolus;Nucleus;Nucleolus NA PE1 20 +NX_Q9H147 329 37013 9.11 0 Nucleus;Nucleus NA PE1 20 +NX_Q9H156 845 95404 7.95 1 Membrane;Cell membrane NA PE1 X +NX_Q9H158 963 103942 5.05 1 Cytoplasmic vesicle;Nucleolus;Nucleus;Cell membrane NA PE2 5 +NX_Q9H159 772 87002 4.62 1 Cell membrane NA PE1 18 +NX_Q9H160 280 32808 8.17 0 Cytosol;Golgi apparatus;Nucleoplasm;Nucleus NA PE1 4 +NX_Q9H161 411 44241 8.56 0 Nucleoplasm;Nucleus Potocki-Shaffer syndrome;Parietal foramina 2;Craniosynostosis 5;Frontonasal dysplasia 2 PE1 11 +NX_Q9H165 835 91197 6.15 0 Nucleus;Nucleoplasm;Cytoplasm;Nucleus Intellectual developmental disorder with persistence of fetal hemoglobin PE1 2 +NX_Q9H169 189 22071 5.76 0 Golgi apparatus;Cytoplasmic vesicle;Axon;Golgi apparatus;Growth cone NA PE1 8 +NX_Q9H171 429 46343 6.29 0 NA NA PE1 20 +NX_Q9H172 646 71896 8.49 6 Membrane NA PE1 11 +NX_Q9H173 461 52085 5.27 0 Endoplasmic reticulum lumen Marinesco-Sjoegren syndrome PE1 5 +NX_Q9H175 543 59591 4.68 0 Nucleus speckle;Nucleus NA PE1 12 +NX_Q9H190 292 31594 9.15 0 Cytosol;Cytoplasmic vesicle;Cytoplasm;Nucleoplasm;Cell membrane;Nucleolus;Nucleus speckle NA PE1 20 +NX_Q9H195 1237 131402 5.28 1 Membrane NA PE2 7 +NX_Q9H1A3 318 36536 6.96 0 Cytosol;Nucleus;Cell junction NA PE1 16 +NX_Q9H1A4 1944 216500 5.88 0 Cytoplasmic vesicle NA PE1 2 +NX_Q9H1A7 115 13092 5.88 0 Nucleus NA PE2 7 +NX_Q9H1B4 397 45628 9.1 0 Cytoplasm;Nucleus NA PE2 X +NX_Q9H1B5 865 96767 8.5 1 Cytosol;Endoplasmic reticulum membrane;Golgi apparatus membrane;Nucleus Spondyloocular syndrome;Pseudoxanthoma elasticum PE1 17 +NX_Q9H1B7 796 82659 8.56 0 Nucleoplasm;Nucleus NA PE1 14 +NX_Q9H1C0 372 41347 10.22 7 Cell membrane NA PE1 12 +NX_Q9H1C3 349 40026 6.57 1 Cytosol;Membrane NA PE1 12 +NX_Q9H1C4 597 66631 6.48 12 Nucleoplasm;Endoplasmic reticulum membrane;Endosome;Lysosome;Phagosome Herpes simplex encephalitis 1 PE1 11 +NX_Q9H1C7 97 10631 4.2 1 Membrane NA PE1 5 +NX_Q9H1D0 765 87286 7.86 6 Cell membrane NA PE1 7 +NX_Q9H1D9 316 35684 5.79 0 Nucleus;Nucleus NA PE1 20 +NX_Q9H1E1 156 17419 9.76 0 Secreted NA PE1 14 +NX_Q9H1E3 243 27296 5 0 Nucleus;Nucleus;Nucleolus;Nucleus NA PE1 1 +NX_Q9H1E5 349 38952 4.31 1 Membrane;Nucleus membrane NA PE1 20 +NX_Q9H1F0 79 8943 8.8 0 Secreted NA PE2 20 +NX_Q9H1H1 148 16872 6.3 0 NA NA PE1 20 +NX_Q9H1H9 1805 202308 5.43 0 Golgi apparatus membrane;Endosome membrane;Centrosome;Midbody NA PE1 6 +NX_Q9H1I8 757 86360 5.02 0 Nucleus;Cytosol;Focal adhesion;Nucleus NA PE1 22 +NX_Q9H1J1 476 54696 9.12 0 Cytoplasm;Nucleus;Cytosol;Nucleus;Cytoplasmic vesicle;Cytoplasm NA PE1 13 +NX_Q9H1J5 351 38849 8.1 0 Extracellular matrix;Cell membrane;Cytosol NA PE2 5 +NX_Q9H1J7 359 40323 8.8 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 12 +NX_Q9H1K0 784 88870 5.36 0 Early endosome membrane;Cell membrane;Cytoplasmic vesicle NA PE1 3 +NX_Q9H1K1 167 17999 9.54 0 Cytosol;Mitochondrion;Cytoplasm;Nucleus Myopathy with exercise intolerance Swedish type PE1 12 +NX_Q9H1K4 315 33849 9.39 6 Mitochondrion inner membrane NA PE1 22 +NX_Q9H1K6 362 37758 8.54 0 Cytoplasmic vesicle NA PE1 15 +NX_Q9H1L0 117 12410 6.4 0 NA NA PE4 20 +NX_Q9H1M0 184 20837 4.41 0 NA NA PE1 X +NX_Q9H1M3 183 20299 9.04 0 Secreted NA PE1 20 +NX_Q9H1M4 99 11343 9.05 0 Secreted NA PE1 20 +NX_Q9H1N7 401 44593 9.34 10 Golgi apparatus membrane NA PE1 6 +NX_Q9H1P3 480 55201 5.94 0 Cytosol Deafness, autosomal dominant, 67 PE1 20 +NX_Q9H1P6 137 15719 8.72 0 NA NA PE1 20 +NX_Q9H1Q7 454 51782 6.41 0 Cytosol;Nucleoplasm NA PE1 20 +NX_Q9H1R2 295 31882 8.77 0 Cell membrane;Cytoplasm;Cell membrane;Cytosol NA PE1 20 +NX_Q9H1R3 596 64685 6.6 0 Cytoplasm;Endoplasmic reticulum Cardiomyopathy, familial hypertrophic PE1 20 +NX_Q9H1U4 602 62984 5.45 1 Cytosol;Nucleus;Membrane NA PE1 9 +NX_Q9H1U9 297 33672 9.51 6 Mitochondrion inner membrane NA PE1 9 +NX_Q9H1V8 727 81001 5.68 12 Golgi apparatus;Nucleus;Synaptic vesicle membrane Mental retardation, autosomal recessive 48 PE1 1 +NX_Q9H1X1 276 31292 5.28 0 Cilium axoneme Ciliary dyskinesia, primary, 12 PE1 6 +NX_Q9H1X3 360 42404 9.2 3 Cytosol;Nucleoplasm;Membrane NA PE1 9 +NX_Q9H1Y0 275 32447 5.48 0 Preautophagosomal structure membrane;Centrosome;Cytoplasm Spinocerebellar ataxia, autosomal recessive, 25 PE1 6 +NX_Q9H1Y3 402 44873 9.3 7 Nucleoplasm;Membrane NA PE1 1 +NX_Q9H1Z4 485 53696 9.33 0 Nucleoplasm;Microtubule organizing center;Cell membrane;Nucleus NA PE1 X +NX_Q9H1Z8 148 17183 8.57 0 Secreted;Secretory vesicle NA PE2 2 +NX_Q9H1Z9 355 36498 5.57 3 Membrane NA PE1 17 +NX_Q9H201 632 68222 5.64 0 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Perinuclear region;Clathrin-coated vesicle;Nucleus NA PE1 17 +NX_Q9H204 178 19520 5.39 0 Membrane;Cytoplasm;Nucleus;Nucleoplasm NA PE1 4 +NX_Q9H205 316 35270 8.38 7 Cell membrane NA PE1 11 +NX_Q9H207 317 35519 9.06 7 Cell membrane NA PE2 11 +NX_Q9H208 303 33817 9.12 7 Cell membrane NA PE2 11 +NX_Q9H209 315 35117 7.56 7 Cell membrane NA PE2 11 +NX_Q9H210 308 34172 9.31 7 Cell membrane NA PE2 11 +NX_Q9H211 546 60390 9.82 0 Nucleus;Nucleus;Nucleus;Kinetochore Meier-Gorlin syndrome 4 PE1 16 +NX_Q9H213 219 24441 9.05 0 Nucleolus NA PE1 X +NX_Q9H221 673 75679 8.52 6 Cytoplasmic vesicle;Membrane Gallbladder disease 4;Sitosterolemia PE1 2 +NX_Q9H222 651 72504 9.15 6 Membrane;Nucleus Sitosterolemia PE1 2 +NX_Q9H223 541 61175 6.33 0 Early endosome membrane;Recycling endosome membrane;Cell membrane NA PE1 15 +NX_Q9H227 469 53696 5.39 0 Cytosol NA PE1 4 +NX_Q9H228 398 41775 9.86 7 Cell membrane NA PE1 19 +NX_Q9H237 461 52318 9.08 8 Cytoplasmic vesicle;Endoplasmic reticulum membrane Focal dermal hypoplasia PE1 X +NX_Q9H239 520 58939 9.7 0 Extracellular matrix NA PE1 17 +NX_Q9H244 342 39439 9.6 7 Cell membrane Bleeding disorder, platelet-type 8 PE1 3 +NX_Q9H246 121 13865 5.17 0 Nucleoplasm;Cytosol NA PE1 1 +NX_Q9H251 3354 369494 4.5 1 Cell membrane Usher syndrome 1D;Usher syndrome 1D/F;Deafness, autosomal recessive, 12 PE1 10 +NX_Q9H252 994 109925 6.55 6 Membrane NA PE1 17 +NX_Q9H254 2564 288985 5.72 0 Nucleolus;Cytoskeleton;Cell cortex;Nucleus Myopathy, congenital, with neuropathy and deafness PE1 19 +NX_Q9H255 320 35493 9.16 7 Cell membrane NA PE2 11 +NX_Q9H257 536 62241 5.79 0 Cytoplasm Candidiasis, familial, 2 PE1 9 +NX_Q9H267 617 70585 6.29 0 Late endosome membrane;Lysosome membrane;Recycling endosome;Clathrin-coated vesicle;Early endosome Arthrogryposis, renal dysfunction and cholestasis syndrome 1 PE1 15 +NX_Q9H269 839 94694 6.32 0 Late endosome membrane;Autophagosome;Lysosome membrane;Early endosome;Clathrin-coated vesicle NA PE1 20 +NX_Q9H270 941 107837 6.6 0 Endosome;Cytosol;Late endosome membrane;Lysosome membrane;Early endosome;Cytoplasmic vesicle;Autophagosome;Clathrin-coated vesicle Leukodystrophy, hypomyelinating, 12 PE1 11 +NX_Q9H293 177 20330 8.73 0 Secreted NA PE1 14 +NX_Q9H295 470 53393 9.41 6 Cell membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Endosome NA PE1 8 +NX_Q9H299 93 10438 4.82 0 Nucleus;Cytoplasm;Nucleus NA PE1 1 +NX_Q9H2A2 487 53401 6.76 0 Centrosome;Cytoplasm NA PE1 6 +NX_Q9H2A3 272 28621 7.65 0 Nucleus NA PE2 4 +NX_Q9H2A7 254 27579 9.06 1 Cell membrane;Cytoplasmic vesicle;Golgi apparatus;Secreted NA PE1 17 +NX_Q9H2A9 424 48834 10.18 1 Golgi apparatus membrane Peeling skin syndrome 3 PE1 19 +NX_Q9H2B2 425 47958 8.72 1 Cytoplasmic vesicle;Cell membrane;Synaptic vesicle membrane NA PE1 18 +NX_Q9H2B4 701 75016 8.47 9 Cell membrane;Basolateral cell membrane;Cytoskeleton Nephrolithiasis, calcium oxalate PE1 4 +NX_Q9H2C0 597 67638 5.58 0 Cytoskeleton;Cytoskeleton;Cytoplasm Giant axonal neuropathy 1, autosomal recessive PE1 16 +NX_Q9H2C1 402 44406 7.87 0 Nucleus NA PE2 12 +NX_Q9H2C2 271 31052 8.59 3 Cytoplasmic vesicle;Endoplasmic reticulum membrane Epileptic encephalopathy, early infantile, 38 PE1 1 +NX_Q9H2C5 316 35955 9.02 7 Cell membrane NA PE3 11 +NX_Q9H2C8 321 36749 8.95 7 Cell membrane NA PE3 11 +NX_Q9H2D1 315 35407 9.49 6 Mitochondrion;Mitochondrion inner membrane Exercise intolerance, riboflavin-responsive PE1 8 +NX_Q9H2D6 2365 261376 8.86 0 Cytosol;Cytoskeleton;Nucleus;Centrosome;Midbody Deafness, autosomal recessive, 28 PE1 22 +NX_Q9H2E6 1030 114395 8.68 1 Cell membrane;Nucleus;Cytoskeleton NA PE1 5 +NX_Q9H2F3 369 41016 8.48 2 Lipid droplet;Endoplasmic reticulum membrane Congenital bile acid synthesis defect 1 PE1 16 +NX_Q9H2F5 836 93463 8.77 0 Nucleus NA PE1 10 +NX_Q9H2F9 335 38869 8.78 0 Cytosol;Golgi apparatus NA PE1 18 +NX_Q9H2G2 1235 142695 5.08 0 Cytoplasm;Cell membrane;Cytosol NA PE1 10 +NX_Q9H2G4 693 79435 4.45 0 Nucleus;Cytoplasm;Nucleus NA PE1 X +NX_Q9H2G9 400 44910 8.74 0 Golgi apparatus lumen;Nucleus;Cytoplasm;Nucleus;Golgi apparatus NA PE1 1 +NX_Q9H2H0 198 20978 9.39 0 Cytoplasm NA PE1 4 +NX_Q9H2H8 161 18155 6.29 0 Nucleus NA PE1 2 +NX_Q9H2H9 487 54048 6.6 11 Cell membrane NA PE1 12 +NX_Q9H2I8 198 22568 6.23 0 Nucleus;Cytosol Albinism, oculocutaneous, 7 PE1 10 +NX_Q9H2J1 176 18048 7.75 0 NA NA PE2 9 +NX_Q9H2J4 239 27614 4.78 0 Nucleus;Cytosol;Cytoplasm NA PE1 2 +NX_Q9H2J7 730 81836 5.06 12 Cytoplasmic vesicle;Nucleolus;Membrane NA PE1 12 +NX_Q9H2K0 278 31725 9.7 0 Mitochondrion;Nucleoplasm;Mitochondrion NA PE1 13 +NX_Q9H2K2 1166 126918 6.76 0 Cytoplasm;Cytoskeleton;Golgi apparatus membrane;Nucleus;Telomere NA PE1 10 +NX_Q9H2K8 898 105406 6.83 0 Cytoplasm;Cell membrane;Mitochondrion NA PE1 12 +NX_Q9H2L4 133 15500 9.62 4 Membrane NA PE2 7 +NX_Q9H2L5 321 36748 7.66 0 Nucleus;Nucleolus;Cell junction NA PE1 10 +NX_Q9H2M3 363 40354 5.61 0 NA NA PE1 5 +NX_Q9H2M9 1393 155985 5.4 0 Cell membrane;Cytosol;Cytoplasm Warburg micro syndrome 2;Martsolf syndrome PE1 1 +NX_Q9H2P0 1102 123563 6.97 0 Nucleus;Nucleoplasm Helsmoortel-van der Aa syndrome PE1 20 +NX_Q9H2P9 285 31651 5.19 0 Golgi apparatus NA PE1 1 +NX_Q9H2Q1 129 14539 8.65 2 Golgi apparatus;Membrane;Endoplasmic reticulum NA PE2 11 +NX_Q9H2R5 256 28087 8.27 0 Secreted NA PE1 19 +NX_Q9H2S1 579 63760 9.58 6 Membrane;Cytosol;Nucleoplasm NA PE1 5 +NX_Q9H2S5 420 45525 8.69 0 Cytoplasmic vesicle;Cell membrane;Cytoplasm;Centrosome NA PE1 6 +NX_Q9H2S6 317 37130 5.12 1 Cytoplasm;Nucleus envelope;Membrane NA PE1 X +NX_Q9H2S9 585 64106 6.39 0 Nucleus;Nucleoplasm;Nucleus NA PE1 12 +NX_Q9H2T7 1088 124375 6.02 0 Nucleus;Cytosol;Nucleus membrane;Nuclear pore complex;Nucleus;Cytoplasm NA PE1 5 +NX_Q9H2U1 1008 114760 7.58 0 Cytosol;Nucleus;Telomere;Nucleus;Cytoplasm NA PE1 3 +NX_Q9H2U2 334 37920 7.07 0 Mitochondrion;Mitochondrion;Nucleus Sudden cardiac failure, alcohol-induced;Sudden cardiac failure, infantile PE1 4 +NX_Q9H2U6 94 11474 7.64 0 NA NA PE5 15 +NX_Q9H2U9 754 85669 6.08 1 Membrane NA PE1 8 +NX_Q9H2V7 528 56630 6.19 12 Endosome;Endoplasmic reticulum;Cytosol;Golgi apparatus;Mitochondrion inner membrane;Cytoplasmic vesicle;Nucleolus NA PE1 16 +NX_Q9H2W1 248 26943 6.57 4 Membrane NA PE1 11 +NX_Q9H2W2 232 24659 9.04 0 Nucleus;Nucleus NA PE1 1 +NX_Q9H2W6 279 31705 6.55 0 Cell junction;Mitochondrion;Mitochondrion;Nucleoplasm NA PE1 15 +NX_Q9H2X0 955 102032 8.07 0 Secreted NA PE1 3 +NX_Q9H2X3 399 45350 5.12 1 Secreted;Cell membrane NA PE1 19 +NX_Q9H2X6 1198 130966 8.69 0 Cytoplasm;Nucleus;PML body NA PE1 7 +NX_Q9H2X8 130 12410 5.36 1 Cytosol;Membrane;Nucleolus NA PE1 14 +NX_Q9H2X9 1139 126184 6.29 12 Membrane Epileptic encephalopathy, early infantile, 34;Epilepsy, idiopathic generalized 14 PE1 20 +NX_Q9H2Y7 1883 208883 6.73 0 Nucleus;Cytosol;Nucleolus;Nucleolus NA PE1 15 +NX_Q9H2Y9 848 91864 7.96 12 Cell membrane NA PE2 8 +NX_Q9H2Z4 354 36179 9.6 0 Nucleus;Nucleus NA PE1 20 +NX_Q9H300 379 42190 9.82 7 Mitochondrion;Nucleus;Mitochondrion inner membrane NA PE1 3 +NX_Q9H305 208 21892 5.55 0 Centrosome;Nucleoplasm;Lysosome membrane;Late endosome membrane NA PE1 16 +NX_Q9H306 513 59026 8.83 0 Endoplasmic reticulum membrane NA PE1 11 +NX_Q9H307 717 81614 6.71 0 Nucleus speckle;Nucleus speckle;Desmosome NA PE1 14 +NX_Q9H310 441 47231 8.74 12 Nucleoplasm;Cytoplasmic vesicle membrane;Basolateral cell membrane NA PE1 1 +NX_Q9H313 450 49051 4.88 5 Cell membrane NA PE1 19 +NX_Q9H320 206 22289 4.37 0 NA NA PE2 X +NX_Q9H321 246 26878 4.2 0 NA NA PE2 X +NX_Q9H322 139 14661 6.18 0 NA NA PE2 X +NX_Q9H324 1103 120874 8.34 0 Extracellular matrix;Cytosol Weill-Marchesani syndrome 1 PE1 19 +NX_Q9H329 900 99712 9.17 0 Cytoplasm;Cytosol;Cell membrane;Tight junction NA PE1 9 +NX_Q9H330 911 100945 9.03 14 Cell membrane;Cytosol;Membrane NA PE1 9 +NX_Q9H334 677 75317 6.2 0 Nucleoplasm;Nucleus Mental retardation with language impairment and autistic features PE1 3 +NX_Q9H336 500 56888 8.47 0 Secreted NA PE1 8 +NX_Q9H339 312 35241 8.59 7 Cell membrane NA PE2 11 +NX_Q9H340 312 35269 9.26 7 Cell membrane NA PE3 11 +NX_Q9H341 326 36669 9.1 7 Cell membrane NA PE3 11 +NX_Q9H342 316 34838 8.5 7 Cell membrane NA PE3 11 +NX_Q9H343 314 35484 9.22 7 Cell membrane NA PE2 11 +NX_Q9H344 312 35002 8.98 7 Cell membrane NA PE3 11 +NX_Q9H346 318 35122 8.57 7 Cell membrane NA PE2 11 +NX_Q9H347 655 70841 5.01 0 NA NA PE1 11 +NX_Q9H354 126 14747 10.34 1 Membrane NA PE5 10 +NX_Q9H361 631 70031 9.68 0 Cytoplasm;Cytoplasm NA PE1 13 +NX_Q9H379 93 10324 7.47 0 NA NA PE5 9 +NX_Q9H3C7 697 79086 5.97 0 Cytoplasmic vesicle;Endoplasmic reticulum NA PE1 17 +NX_Q9H3D4 680 76785 6.12 0 Nucleus;Nucleoplasm;Golgi apparatus;Cytosol Acro-dermato-ungual-lacrimal-tooth syndrome;Non-syndromic orofacial cleft 8;Ectodermal dysplasia, Rapp-Hodgkin type;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3;Limb-mammary syndrome;Ankyloblepharon-ectodermal defects-cleft lip/palate;Split-hand/foot malformation 4 PE1 3 +NX_Q9H3E2 840 97945 5.99 0 Cytoplasmic vesicle;Endosome membrane NA PE1 4 +NX_Q9H3F6 313 35432 5.97 0 Nucleus;Nucleoplasm;Cytosol NA PE1 12 +NX_Q9H3G5 476 54164 5.39 0 Endoplasmic reticulum NA PE1 7 +NX_Q9H3H1 467 52725 8.35 0 Cytosol;Nucleoplasm;Mitochondrion;Cytoplasm NA PE1 1 +NX_Q9H3H3 251 27355 5.28 0 Nucleus;Nucleolus NA PE1 11 +NX_Q9H3H5 408 46090 8.25 10 Endoplasmic reticulum membrane Myasthenic syndrome, congenital, 13;Congenital disorder of glycosylation 1J PE1 11 +NX_Q9H3H9 227 25850 5.79 0 Cytosol;Nucleus;Nucleus speckle NA PE1 X +NX_Q9H3J6 166 18828 9.82 0 Mitochondrion;Nucleus;Mitochondrion;Cytosol Combined oxidative phosphorylation deficiency 7;Spastic paraplegia 55, autosomal recessive PE1 12 +NX_Q9H3K2 345 37205 9.95 7 Mitochondrion;Mitochondrion inner membrane;Mitochondrion NA PE1 10 +NX_Q9H3K6 86 10117 6.07 0 Cytoplasm;Cytoplasm;Nucleus NA PE1 16 +NX_Q9H3L0 296 32940 5.16 0 Cytoplasm;Cytoplasm;Mitochondrion Methylmalonic aciduria and homocystinuria type cblD PE1 2 +NX_Q9H3M0 494 55584 5.9 6 Membrane;Golgi apparatus NA PE1 2 +NX_Q9H3M7 391 43661 7.46 0 Cytosol;Cell membrane;Cytoplasm NA PE1 1 +NX_Q9H3M9 355 40747 4.87 0 Nucleus NA PE1 X +NX_Q9H3N1 280 31791 4.91 1 Membrane;Endoplasmic reticulum membrane;Nucleolus;Endoplasmic reticulum NA PE1 14 +NX_Q9H3N8 390 44496 9.62 7 Cell membrane NA PE1 18 +NX_Q9H3P2 528 57277 9.1 0 Nucleus;Cytosol;Nucleus;Nucleoplasm NA PE1 4 +NX_Q9H3P7 528 60593 5.02 0 Golgi apparatus;Golgi apparatus membrane;Mitochondrion NA PE1 1 +NX_Q9H3Q1 356 37980 5.05 0 Cytoskeleton;Endomembrane system;Cytoskeleton;Cell membrane;Cytoskeleton NA PE1 17 +NX_Q9H3Q3 398 46110 10.03 1 Golgi stack membrane NA PE1 2 +NX_Q9H3R0 1056 119982 6.06 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q9H3R1 872 100716 7.19 1 Golgi apparatus membrane NA PE1 4 +NX_Q9H3R2 512 54604 4.91 1 Cell membrane;Apical cell membrane;Secreted NA PE1 3 +NX_Q9H3R5 247 28481 5.23 0 Kinetochore;Nucleus;Nucleus;Nucleolus NA PE1 5 +NX_Q9H3S1 761 83574 6.38 1 Nucleus;Cell membrane Retinitis pigmentosa 35;Cone-rod dystrophy 10 PE1 1 +NX_Q9H3S3 457 49560 6.24 1 Nucleoplasm;Cell membrane NA PE1 11 +NX_Q9H3S4 243 27265 5.03 0 Cytoplasmic vesicle Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type PE1 7 +NX_Q9H3S5 423 49460 9.26 10 Endoplasmic reticulum membrane Glycosylphosphatidylinositol deficiency PE1 1 +NX_Q9H3S7 1636 178974 6.45 0 Nucleus;Nucleus;Early endosome;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Endosome;Cilium basal body NA PE1 3 +NX_Q9H3T2 930 99686 8.36 1 Endoplasmic reticulum;Cell membrane NA PE1 1 +NX_Q9H3T3 888 95285 8.83 1 Cell membrane NA PE1 19 +NX_Q9H3U1 944 103077 5.8 0 Nucleus speckle;Cytosol;Perinuclear region;Nucleus;Cytoplasm NA PE1 15 +NX_Q9H3U5 465 51209 6.32 11 Endoplasmic reticulum;Nucleus;Nucleolus;Membrane NA PE1 3 +NX_Q9H3U7 446 49674 8.8 0 Basement membrane Dentin dysplasia 1 PE1 6 +NX_Q9H3V2 200 22283 6.27 4 Membrane NA PE2 11 +NX_Q9H3W5 708 79424 8.02 1 Cytosol;Nucleus;Membrane NA PE2 7 +NX_Q9H3Y0 253 28605 9.25 0 Secreted NA PE2 20 +NX_Q9H3Y6 488 54507 8.51 0 Cytosol;Cytoskeleton;Cytoskeleton;Cytoplasm NA PE1 20 +NX_Q9H3Y8 114 11777 6.89 0 Nucleoplasm;Cytoskeleton;Nucleolus NA PE1 20 +NX_Q9H3Z4 198 22149 4.93 0 Membrane;Melanosome;Golgi apparatus;Cell membrane Ceroid lipofuscinosis, neuronal, 4B PE1 20 +NX_Q9H3Z7 469 52555 8.9 0 Nucleoplasm NA PE1 20 +NX_Q9H400 295 31288 9.7 1 Cell membrane NA PE1 20 +NX_Q9H410 356 40067 6.57 0 Nucleus;Kinetochore;Nucleus NA PE1 20 +NX_Q9H422 1215 133743 7.16 0 Nucleus;Cytoplasm;Nucleus;Cytosol NA PE1 11 +NX_Q9H425 327 36346 5.6 0 Cytosol;Cytoplasm NA PE1 1 +NX_Q9H426 269 29329 5.65 0 Synapse;Nucleoplasm NA PE1 20 +NX_Q9H427 330 36130 9.89 4 Membrane NA PE1 20 +NX_Q9H444 224 24950 4.76 0 Nucleus envelope;Cytosol;Late endosome membrane;Midbody Cataract 31, multiple types PE1 20 +NX_Q9H446 243 27940 4.11 0 NA NA PE1 6 +NX_Q9H461 694 73300 8.58 7 Endoplasmic reticulum;Membrane;Golgi apparatus;Cell membrane NA PE1 10 +NX_Q9H467 287 32009 4.74 0 Nucleoplasm;Nucleus;Cytosol;Cytoplasm NA PE1 10 +NX_Q9H469 300 32998 7.13 0 Cytoplasm NA PE1 10 +NX_Q9H477 322 34143 4.94 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q9H478 68 7384 9.59 0 NA NA PE2 11 +NX_Q9H479 309 35171 7.13 0 Mitochondrion NA PE1 17 +NX_Q9H488 388 43956 8.77 0 Centrosome;Endoplasmic reticulum Dowling-Degos disease 2 PE1 20 +NX_Q9H489 355 39573 8.24 0 NA NA PE5 20 +NX_Q9H490 435 50052 7.59 9 Cytosol;Nucleoplasm;Endoplasmic reticulum membrane NA PE1 20 +NX_Q9H492 121 14272 8.73 0 Cytoskeleton;Endomembrane system;Autophagosome membrane;Autophagosome NA PE1 20 +NX_Q9H496 131 15348 6.88 0 NA NA PE1 1 +NX_Q9H497 397 46199 5.67 0 Cytoplasm;Endoplasmic reticulum lumen NA PE1 1 +NX_Q9H4A3 2382 250794 5.94 0 Cytoplasm;Cytosol Neuropathy, hereditary sensory and autonomic, 2A;Pseudohypoaldosteronism 2C PE1 12 +NX_Q9H4A4 650 72596 5.51 0 Nucleoplasm;Golgi apparatus;Secreted NA PE1 1 +NX_Q9H4A5 285 32767 5.62 0 Cytosol;Cell membrane;Nucleoplasm;Golgi stack membrane;trans-Golgi network membrane NA PE1 1 +NX_Q9H4A6 298 33811 6.05 0 Cytoplasmic vesicle;Golgi stack membrane;trans-Golgi network membrane;Mitochondrion intermembrane space;Golgi apparatus;Cell membrane;Endosome NA PE1 5 +NX_Q9H4A9 486 53306 5.97 0 Membrane NA PE1 16 +NX_Q9H4B0 414 45123 8.83 0 Mitochondrion;Mitochondrion NA PE1 2 +NX_Q9H4B4 646 71629 9.28 0 Cytoplasm;Nucleus;Nucleolus;Golgi apparatus;Centrosome NA PE1 1 +NX_Q9H4B6 383 44634 9.12 0 Cytosol;Nucleus;Cytoplasm NA PE1 14 +NX_Q9H4B7 451 50327 5.05 0 Cytoplasm;Cytoskeleton Macrothrombocytopenia, autosomal dominant, TUBB1-related PE1 20 +NX_Q9H4B8 488 53687 8.11 0 Membrane NA PE1 16 +NX_Q9H4D0 955 107006 5.21 1 Cytoplasmic vesicle;Cell membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE1 3 +NX_Q9H4D5 531 60102 6.29 0 Cytoplasm;Nucleus;Nucleoplasm NA PE1 X +NX_Q9H4E5 214 23821 6.37 0 Cell membrane;Nucleus;Nucleolus;Cell membrane NA PE1 14 +NX_Q9H4E7 631 73910 5.78 0 Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;Cytoskeleton;Perinuclear region;Filopodium NA PE1 6 +NX_Q9H4F1 302 34201 8.9 1 Nucleus;Golgi apparatus;Golgi apparatus membrane NA PE1 9 +NX_Q9H4F8 434 48163 8.59 0 Basement membrane;Cell membrane Ophthalmoacromelic syndrome PE1 14 +NX_Q9H4G0 881 98503 5.43 0 Cell membrane;Cytoskeleton Mental retardation, autosomal dominant 11 PE1 20 +NX_Q9H4G1 147 17276 5.93 0 Secreted NA PE1 20 +NX_Q9H4G4 154 17218 9.44 0 Golgi apparatus membrane;Cytoskeleton;Cytoplasmic vesicle NA PE1 9 +NX_Q9H4G8 78 8721 3.96 0 NA NA PE5 20 +NX_Q9H4H8 585 64424 6.1 0 Cytoplasm;Spindle;Spindle pole NA PE1 20 +NX_Q9H4I0 556 63324 5.07 0 Nucleus;Chromosome NA PE2 20 +NX_Q9H4I2 956 104658 5.73 0 Nucleus;Nucleoplasm NA PE1 20 +NX_Q9H4I3 376 42321 8.15 0 Nucleus;Mitochondrion NA PE1 22 +NX_Q9H4I8 314 35369 6.3 0 Peroxisome;Perinuclear region NA PE1 22 +NX_Q9H4I9 107 11441 6.56 1 Mitochondrion inner membrane;Nucleus;Mitochondrion NA PE1 22 +NX_Q9H4K1 309 37060 9.57 0 NA NA PE1 22 +NX_Q9H4K7 406 43955 9.52 0 Mitochondrion;Mitochondrion inner membrane NA PE1 20 +NX_Q9H4L4 574 65010 8.82 0 Nucleus;Nucleolus;Nucleus;Nucleoplasm;Cytoplasm;Nucleolus NA PE1 17 +NX_Q9H4L5 887 101224 6.42 0 Cytosol;Nucleolus;Endoplasmic reticulum membrane;Cytosol;Cell membrane;Filopodium tip;Nucleus membrane NA PE1 7 +NX_Q9H4L7 1026 117402 5.39 0 Nucleus;Chromosome;Nucleoplasm Adermatoglyphia;Basan syndrome PE1 4 +NX_Q9H4M3 255 29747 5.52 0 Nucleoplasm NA PE1 1 +NX_Q9H4M7 779 85401 10.57 0 Cytosol;Cell membrane;Centrosome;Cytoskeleton;Cytoplasm;Membrane NA PE1 19 +NX_Q9H4M9 534 60627 6.35 0 Recycling endosome membrane;Cilium membrane;Cell membrane;Early endosome membrane NA PE1 11 +NX_Q9H4P4 317 35905 5.75 0 Midbody ring;Nucleus;Nucleus NA PE1 12 +NX_Q9H4Q3 707 73981 9 0 Nucleus NA PE2 6 +NX_Q9H4Q4 367 40403 8.58 0 Nucleus;Nucleus Neuropathy, hereditary sensory and autonomic, 8 PE1 9 +NX_Q9H4R4 102 11336 6.96 0 NA NA PE5 20 +NX_Q9H4S2 264 27883 9.17 0 Nucleus NA PE2 13 +NX_Q9H4T2 348 40792 8.36 0 Nucleus;Nucleus NA PE1 6 +NX_Q9H4W6 596 64864 8.91 0 Nucleus Hypotonia, ataxia, and delayed development syndrome PE1 10 +NX_Q9H4X1 137 14559 4.59 0 Cytoplasm;Nucleus;Centrosome;Nucleus;Nucleolus NA PE1 13 +NX_Q9H4Y5 243 28254 7.51 0 Nucleolus;Nucleus NA PE1 10 +NX_Q9H4Z2 1342 144893 5.97 0 Nucleus;Nucleoplasm Microcephaly 10, primary, autosomal recessive PE1 20 +NX_Q9H4Z3 704 80670 7.09 0 Nucleus;Nucleoplasm;Cytoskeleton;Cytoskeleton NA PE1 20 +NX_Q9H501 851 98796 5.01 0 Nucleoplasm;Nucleus;Nucleolus;Nucleolus NA PE1 20 +NX_Q9H503 90 10309 5.5 0 Nucleus;Cytoplasm NA PE1 20 +NX_Q9H511 634 70246 6.3 0 Nucleus NA PE1 6 +NX_Q9H521 79 9322 4.71 0 NA NA PE5 13 +NX_Q9H553 416 47092 6.61 1 Membrane;Cytosol;Cytoskeleton Myasthenic syndrome, congenital, 14;Congenital disorder of glycosylation 1I PE1 9 +NX_Q9H560 264 30436 9.15 0 NA NA PE5 9 +NX_Q9H568 366 41360 5.78 0 Cytosol;Cytoskeleton NA PE1 1 +NX_Q9H579 483 54816 5.96 0 Nucleus NA PE1 20 +NX_Q9H582 1327 149565 8.43 0 Cytoplasmic vesicle;Nucleus Myopia 21, autosomal dominant PE1 1 +NX_Q9H583 2144 242370 6.11 0 Nucleolus;Mitochondrion;Nucleolus NA PE1 1 +NX_Q9H596 190 21529 8.95 0 Cytoplasm;Mitochondrion inner membrane;Nucleus NA PE1 X +NX_Q9H598 525 57415 6.19 10 Cytoplasmic vesicle membrane NA PE1 20 +NX_Q9H5F2 150 17785 8.68 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q9H5H4 540 60229 8.27 0 Cytoplasmic vesicle;Nucleus;Nucleus NA PE1 16 +NX_Q9H5I1 410 46682 8.55 0 Nucleus;Centromere;Mitochondrion NA PE1 10 +NX_Q9H5I5 2752 318064 5.82 37 Membrane;Cytoplasmic vesicle Arthrogryposis, distal, 3;Marden-Walker syndrome;Arthrogryposis, distal, with impaired proprioception and touch;Arthrogryposis, distal, 5 PE1 18 +NX_Q9H5J0 574 61827 5.4 0 Nucleus;Mitochondrion NA PE1 11 +NX_Q9H5J4 265 31376 9.42 7 Endoplasmic reticulum membrane NA PE1 4 +NX_Q9H5J8 278 32058 8.8 0 Nucleus;Microtubule organizing center;Nucleoplasm NA PE1 11 +NX_Q9H5K3 350 40050 5.68 1 Cytosol;Endoplasmic reticulum membrane;Nucleus Muscular dystrophy-dystroglycanopathy limb-girdle C12;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 PE1 8 +NX_Q9H5L6 903 103411 9.26 0 Mitochondrion NA PE1 4 +NX_Q9H5L9 145 15570 8.9 0 NA NA PE5 5 +NX_Q9H5N1 569 63543 4.76 0 Cytosol;Early endosome;Cytoplasmic vesicle;Cytoplasm NA PE1 16 +NX_Q9H5P4 517 55677 9.11 0 Cilium;Nucleus Usher syndrome 2A;Usher syndrome 2C PE1 10 +NX_Q9H5Q4 396 45349 9.3 0 Mitochondrion;Mitochondrion NA PE1 1 +NX_Q9H5U6 513 59010 9.06 0 Nucleus speckle;Golgi apparatus NA PE1 4 +NX_Q9H5V7 419 46510 7.09 0 Nucleus;Cell membrane;Cytosol;Nucleoplasm NA PE1 10 +NX_Q9H5V8 836 92932 8.28 1 Cell membrane;Secreted NA PE1 3 +NX_Q9H5V9 222 25625 8.94 0 Centrosome;Nucleus NA PE1 X +NX_Q9H5X1 160 18355 4.88 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 15 +NX_Q9H5Y7 841 95110 6.07 1 Endoplasmic reticulum;Cell membrane;Cell membrane Deafness and myopia PE1 13 +NX_Q9H5Z1 703 78910 8.81 0 Centrosome;Nucleus;Nucleus NA PE1 20 +NX_Q9H5Z6 455 50961 6.86 0 Nucleus;Nucleoplasm NA PE1 2 +NX_Q9H606 182 19976 10.13 0 NA NA PE2 Y +NX_Q9H607 264 29404 10.01 0 Golgi apparatus NA PE2 19 +NX_Q9H609 170 18890 8.79 0 Nucleus;Golgi apparatus;Nucleoplasm NA PE1 19 +NX_Q9H611 641 69799 9.81 0 Mitochondrion;Nucleoplasm;Nucleus NA PE1 15 +NX_Q9H628 205 23855 9.56 0 NA NA PE2 12 +NX_Q9H633 154 17570 9.64 0 Nucleolus NA PE1 6 +NX_Q9H649 340 38244 9.09 0 Nucleus membrane;Mitochondrion matrix;Nucleoplasm NA PE1 3 +NX_Q9H665 355 37895 6.7 1 Focal adhesion;Cell membrane NA PE1 19 +NX_Q9H668 368 42119 5.72 0 Nucleus;Nucleus;Telomere Cerebroretinal microangiopathy with calcifications and cysts 2 PE1 10 +NX_Q9H672 318 36011 8.57 0 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA PE1 15 +NX_Q9H693 158 16793 9.83 0 Endoplasmic reticulum NA PE1 16 +NX_Q9H694 974 104844 8.75 0 Nucleoplasm;Cytoplasm Renal dysplasia, cystic PE1 10 +NX_Q9H6A0 471 53672 7.55 0 Cytoplasm;Nucleoplasm;Cytosol NA PE1 1 +NX_Q9H6A9 2034 222039 6.19 13 Cytosol;Membrane NA PE1 11 +NX_Q9H6B1 395 42296 10.04 0 Nucleus NA PE1 3 +NX_Q9H6B4 373 41281 8.11 1 Tight junction;Cell membrane Congenital short bowel syndrome PE1 11 +NX_Q9H6B9 360 40909 7.67 1 Microsome membrane NA PE1 19 +NX_Q9H6D3 395 44655 7.62 8 Endoplasmic reticulum;Golgi apparatus;Cell membrane NA PE1 1 +NX_Q9H6D7 363 42400 5.52 0 Cell membrane;Focal adhesion;Centrosome;Spindle NA PE1 14 +NX_Q9H6D8 234 25159 8.39 1 Membrane;Cytosol;Nucleoplasm;Secreted NA PE2 2 +NX_Q9H6E4 229 26561 8.89 0 Endoplasmic reticulum;Nucleus;Cytoplasm;Secreted NA PE1 22 +NX_Q9H6E5 874 93847 5.8 0 Cytosol;Nucleolus;Nucleus;Nucleus speckle NA PE1 11 +NX_Q9H6F2 299 33260 8.56 7 Nucleus;Sarcoplasmic reticulum membrane;Nucleus membrane NA PE1 19 +NX_Q9H6F5 360 40236 10.33 0 Nucleolus;Nucleus;Nucleus NA PE1 11 +NX_Q9H6H4 257 29395 9.74 2 Cytosol;Endoplasmic reticulum membrane NA PE1 8 +NX_Q9H6I2 414 44117 6 0 Nucleus;Nucleoplasm Vesicoureteral reflux 3 PE1 8 +NX_Q9H6J7 331 37353 5.16 0 Nucleus;Cytoplasm;Nucleus speckle NA PE1 11 +NX_Q9H6K1 298 32872 4.43 0 Nucleus;Nucleus speckle NA PE1 6 +NX_Q9H6K4 179 19996 9.07 0 Cytosol;Mitochondrion;Nucleoplasm Optic atrophy 3;3-methylglutaconic aciduria 3 PE1 19 +NX_Q9H6K5 1346 132748 10.48 0 Golgi apparatus;Nucleus NA PE1 19 +NX_Q9H6L2 316 36059 7.76 2 Cilium membrane;Cytoplasmic vesicle Meckel syndrome 11;Joubert syndrome 20 PE1 16 +NX_Q9H6L4 198 21924 5.73 0 Cytosol NA PE1 17 +NX_Q9H6L5 497 54681 4.53 4 Nucleus;Endoplasmic reticulum;cis-Golgi network membrane;Endoplasmic reticulum membrane Neuropathy, hereditary sensory and autonomic, 2B PE1 5 +NX_Q9H6N6 1097 128290 5.4 0 NA NA PE1 7 +NX_Q9H6P5 420 44455 7.89 0 Cell membrane NA PE1 20 +NX_Q9H6Q3 261 28585 5.23 0 Cytoplasmic vesicle;Cytoplasmic vesicle;Cell membrane;Cytoplasm;Golgi apparatus;Nucleoplasm NA PE1 20 +NX_Q9H6Q4 476 53020 6.81 0 Cell membrane;Cytosol NA PE1 16 +NX_Q9H6R0 707 78874 9.08 0 Nucleolus;Nucleoplasm;Nucleolus NA PE1 17 +NX_Q9H6R3 686 74778 8.84 0 Mitochondrion;Mitochondrion NA PE1 12 +NX_Q9H6R4 1146 127593 7.42 0 Nucleolus;Chromosome;Nucleolus;Mitochondrion;Nucleus NA PE1 9 +NX_Q9H6R6 413 47663 8.81 4 Endoplasmic reticulum membrane NA PE1 10 +NX_Q9H6R7 721 79136 6.23 0 Nucleolus;Cytosol NA PE1 2 +NX_Q9H6S0 1430 160248 8.68 0 Nucleus;Cytosol;Nucleoplasm NA PE1 5 +NX_Q9H6S1 392 44935 6.15 0 Cytoplasm NA PE1 3 +NX_Q9H6S3 715 80621 6.39 0 Cytosol;Cytoplasm;Cell membrane;Stereocilium Deafness, autosomal recessive, 106 PE1 11 +NX_Q9H6T0 727 78401 6.27 0 Nucleus;Nucleoplasm NA PE1 16 +NX_Q9H6T3 665 75719 6.46 0 Cytosol NA PE1 12 +NX_Q9H6U6 928 101237 6.23 0 Nucleus;Cytoplasm;Nucleolus;Cytoskeleton NA PE1 17 +NX_Q9H6U8 611 69863 8.91 8 Endoplasmic reticulum;Endoplasmic reticulum membrane;Endoplasmic reticulum Gillessen-Kaesbach-Nishimura syndrome;Congenital disorder of glycosylation 1L PE1 11 +NX_Q9H6V9 325 37319 6.09 0 Cytosol;Lipid droplet;Endoplasmic reticulum;Nucleus speckle NA PE1 2 +NX_Q9H6W3 641 71086 6.02 0 Nucleolus;Nucleolus;Nucleoplasm NA PE1 14 +NX_Q9H6X2 564 62789 7.54 1 Cytoplasmic vesicle;Filopodium membrane;Lamellipodium membrane;Cell membrane Hemangioma, capillary infantile;GAPO syndrome PE1 2 +NX_Q9H6X4 195 21586 6.08 2 Cytosol;Membrane;Perinuclear region NA PE1 11 +NX_Q9H6X5 657 71343 5.52 0 Nucleus;Nucleus NA PE1 19 +NX_Q9H6Y2 383 42070 4.78 0 Nucleolus;Cytoplasm;Nucleolus;Nucleus NA PE1 5 +NX_Q9H6Y5 334 35217 10.82 0 NA NA PE1 X +NX_Q9H6Y7 350 38299 5.37 1 Cytosol;Endomembrane system NA PE1 17 +NX_Q9H6Z4 567 60210 4.7 0 Cytoplasm;Nucleus;Nucleoplasm NA PE1 19 +NX_Q9H6Z9 239 27261 7.56 0 Cytosol;Nucleus;Cytoplasm NA PE1 14 +NX_Q9H706 876 97186 6.32 0 Cytosol;Nucleoplasm NA PE1 18 +NX_Q9H707 407 46198 8.84 0 Nucleus NA PE1 19 +NX_Q9H714 662 73457 5.69 0 Cytosol NA PE1 13 +NX_Q9H720 699 78584 8.75 10 Membrane NA PE1 4 +NX_Q9H741 205 23594 8.49 0 Secreted NA PE1 12 +NX_Q9H756 370 42334 5.01 1 Membrane NA PE1 9 +NX_Q9H765 288 31642 5.58 0 Cytoplasm NA PE1 12 +NX_Q9H772 168 19320 9.36 0 Secreted Tooth agenesis, selective, 9 PE1 1 +NX_Q9H773 170 18681 4.93 0 Cytosol;Cytosol;Nucleus;Mitochondrion;Nucleoplasm NA PE1 16 +NX_Q9H777 363 40019 6.32 0 Cytosol;Cytosol;Nucleus;Nucleus NA PE1 18 +NX_Q9H788 454 52727 8.09 0 Cytosol;Cytoplasm NA PE1 8 +NX_Q9H790 373 41816 5.28 0 Cytosol;Nucleus;Cytosol;Nucleoplasm NA PE1 1 +NX_Q9H792 1746 193106 6.46 0 Cytoskeleton;Focal adhesion NA PE1 15 +NX_Q9H799 3197 361746 6.55 2 Cytosol;Membrane;Cilium Orofaciodigital syndrome 6;Joubert syndrome 17 PE1 5 +NX_Q9H7B2 306 35583 10 0 Nucleus;Nucleolus;Nucleolus;Nucleus;Nucleolus NA PE1 6 +NX_Q9H7B4 428 49097 7.05 0 Cytoplasm;Nucleus;Cytoplasmic vesicle;Golgi apparatus NA PE1 1 +NX_Q9H7B7 122 14425 9.47 0 Secreted NA PE2 7 +NX_Q9H7C4 482 55299 4.59 0 Perinuclear region;Cell membrane;Cytoplasmic vesicle;Golgi apparatus NA PE1 1 +NX_Q9H7C9 122 13332 8.58 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 11 +NX_Q9H7D0 1870 215309 8.08 0 Cytosol;Cytoplasm;Cell membrane NA PE1 8 +NX_Q9H7D7 661 72124 5.74 0 Cytosol;Nucleoplasm;Mitochondrion;Cytoplasm Skraban-Deardorff syndrome PE1 1 +NX_Q9H7E2 651 73185 9.27 0 Nucleus;Cytoplasm;Cytosol;Nucleoplasm NA PE1 13 +NX_Q9H7E9 229 24993 9.99 0 Cell membrane;Nucleoplasm NA PE1 8 +NX_Q9H7F0 1226 138043 6.21 11 Cell membrane;Cytosol;Membrane;Nucleolus NA PE1 3 +NX_Q9H7F4 350 40599 7.66 7 Membrane NA PE1 2 +NX_Q9H7H0 456 50734 9.45 0 Mitochondrion;Nucleus NA PE1 14 +NX_Q9H7J1 279 30644 11.16 0 Mitochondrion;Cytoskeleton NA PE1 14 +NX_Q9H7L2 352 38777 8.69 0 Secreted NA PE5 19 +NX_Q9H7L9 328 38136 5.55 0 Cytosol;Nucleus;Nucleus NA PE1 12 +NX_Q9H7M6 989 110138 6.63 0 NA NA PE2 19 +NX_Q9H7M9 311 33908 6.45 1 Nucleoplasm;Cell membrane NA PE1 10 +NX_Q9H7N4 1312 139270 9.31 0 Cytosol;Nucleoplasm;Nucleus NA PE1 19 +NX_Q9H7P6 319 35620 8.42 0 Cytoplasmic vesicle;Golgi apparatus;Late endosome membrane;Endosome NA PE1 9 +NX_Q9H7P9 1386 147969 5.57 0 Cytosol;Nucleoplasm Leukodystrophy and acquired microcephaly with or without dystonia PE1 19 +NX_Q9H7R0 627 72863 9.03 0 Cytoplasmic vesicle;Nucleus;Nucleus membrane NA PE2 19 +NX_Q9H7R5 613 70223 9.4 0 Nucleus membrane;Nucleus NA PE1 19 +NX_Q9H7S9 590 58222 8.99 0 Nucleus;Cytoplasm NA PE1 8 +NX_Q9H7T0 1116 126924 6.72 4 Membrane;Cytoplasmic vesicle NA PE1 14 +NX_Q9H7T3 257 26270 11.69 0 NA NA PE1 10 +NX_Q9H7T9 357 40253 7.19 0 Centrosome;Spindle pole;Centrosome NA PE1 1 +NX_Q9H7U1 834 93548 6.4 0 Cytosol;Nucleoplasm NA PE1 10 +NX_Q9H7V2 258 28551 4.74 1 Cell membrane;Early endosome membrane;Postsynaptic density;Synapse;Dendrite;Dendritic spine;Cytoplasmic vesicle NA PE1 20 +NX_Q9H7X0 242 27451 7.21 0 Cytosol;Cytoskeleton;Golgi apparatus membrane NA PE1 16 +NX_Q9H7X2 142 15517 9.87 1 Membrane NA PE2 1 +NX_Q9H7X3 374 40575 9.26 0 Nucleus;Nucleus;Nucleolus NA PE1 8 +NX_Q9H7X7 185 20835 5.03 0 Cytoskeleton;Cytosol;Cilium NA PE1 7 +NX_Q9H7Y0 433 48555 8.11 0 Secreted NA PE1 X +NX_Q9H7Z3 1164 132673 7.72 0 Nucleus;Nucleoplasm;Mitochondrion NA PE1 14 +NX_Q9H7Z6 458 52403 8.48 0 Nucleoplasm;Chromosome;Nucleus NA PE1 16 +NX_Q9H7Z7 377 41943 9.22 1 Mitochondrion;Golgi apparatus membrane;Perinuclear region NA PE1 9 +NX_Q9H808 572 63473 5.78 0 Cytoplasm Preimplantation embryonic lethality 1 PE1 19 +NX_Q9H813 350 40043 9.01 2 Membrane NA PE1 1 +NX_Q9H814 394 44403 5.27 0 Nucleoplasm;Nucleoplasm;Cajal body;Cytoplasm NA PE1 5 +NX_Q9H816 532 60002 8.64 0 Nucleus;Telomere;Nucleoplasm;Nucleus;Centrosome Hoyeraal-Hreidarsson syndrome PE1 1 +NX_Q9H819 358 41551 7.04 1 Cell junction;Membrane NA PE1 5 +NX_Q9H825 291 33387 6.46 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q9H832 354 38210 5.37 0 Cytosol;Nucleus;Cytoplasm;Nucleoplasm NA PE1 17 +NX_Q9H840 131 14537 6.83 0 Nucleus;Cytosol;Cytoplasm;Nucleoplasm;Gem NA PE1 19 +NX_Q9H841 368 40785 9.05 9 Membrane NA PE1 8 +NX_Q9H845 621 68760 8.15 0 Mitochondrion;Mitochondrion Acyl-CoA dehydrogenase family, member 9, deficiency PE1 3 +NX_Q9H853 241 27551 7.71 0 Cytoskeleton NA PE5 2 +NX_Q9H857 520 60719 6.3 0 NA NA PE1 3 +NX_Q9H867 229 25807 4.83 0 Cytoplasm NA PE1 14 +NX_Q9H869 796 87944 8.04 0 Nucleolus;Cytoplasm;Nucleus;Nucleolus;Nucleoplasm Grange syndrome PE1 1 +NX_Q9H871 391 43993 5.71 0 Nucleoplasm NA PE1 2 +NX_Q9H875 184 20997 9.78 0 Cytosol;Nucleolus;Cytoskeleton NA PE1 7 +NX_Q9H892 705 78756 5.5 0 Nucleoplasm NA PE1 11 +NX_Q9H898 229 25833 9.49 0 Nucleolus;Nucleus;Nucleus NA PE1 8 +NX_Q9H8E8 782 88844 6.14 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 20 +NX_Q9H8G1 570 66319 8.94 0 Nucleus NA PE1 19 +NX_Q9H8G2 361 38368 4.63 0 Cytoplasmic vesicle NA PE1 9 +NX_Q9H8H0 719 81124 5.74 0 Nucleolus;Nucleolus NA PE1 17 +NX_Q9H8H2 851 94087 10.01 0 Golgi apparatus;Nucleolus;Nucleolus;Cytoplasmic vesicle NA PE1 9 +NX_Q9H8H3 244 28319 8.7 0 Lipid droplet;Endoplasmic reticulum;Membrane;Lipid droplet NA PE1 12 +NX_Q9H8J5 431 46810 6.09 1 Membrane;Cytoplasmic vesicle;Golgi apparatus NA PE1 12 +NX_Q9H8K7 445 49249 5.85 0 NA NA PE1 10 +NX_Q9H8L6 949 104409 5.56 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 10 +NX_Q9H8M1 238 27071 9.67 0 Mitochondrion inner membrane;Cytosol NA PE1 2 +NX_Q9H8M2 597 67000 5.81 0 Nucleoplasm NA PE1 5 +NX_Q9H8M5 875 96623 6 3 Cytoplasmic vesicle;Cell membrane Hypomagnesemia 6;Hypomagnesemia, seizures, and mental retardation PE1 10 +NX_Q9H8M7 445 49725 4.69 0 Nucleus membrane;Nucleoplasm;Nucleus NA PE1 10 +NX_Q9H8M9 152 17470 6.44 1 Endoplasmic reticulum membrane;Cell membrane;Lysosome membrane;Cytoplasmic vesicle NA PE1 2 +NX_Q9H8N7 513 54939 7.17 0 Nucleus;Cytosol;Cytoplasm;Nucleus NA PE1 8 +NX_Q9H8P0 318 36521 9.49 6 Cell membrane;Cytosol;Endoplasmic reticulum membrane Congenital disorder of glycosylation 1Q;Kahrizi syndrome PE1 4 +NX_Q9H8Q6 139 16103 9.14 0 NA NA PE5 15 +NX_Q9H8S5 307 33574 8.96 0 NA NA PE2 19 +NX_Q9H8S9 216 25080 6.45 0 NA NA PE1 2 +NX_Q9H8T0 292 33128 9.34 0 Cytoplasm;Cell membrane NA PE1 16 +NX_Q9H8U3 227 25184 7.43 0 Nucleus;Cytoplasmic vesicle;Nucleoplasm NA PE1 6 +NX_Q9H8V3 914 103505 7.77 0 Nucleus;Cell junction;Midbody;Cleavage furrow;Spindle;Tight junction;Nucleus;Cytoplasm NA PE1 3 +NX_Q9H8V8 135 14815 11.93 0 NA NA PE5 4 +NX_Q9H8W2 130 13851 12.08 0 NA NA PE5 6 +NX_Q9H8W3 233 27021 7.69 0 Nucleus;Nucleolus NA PE1 10 +NX_Q9H8W4 249 27798 8.55 0 Endosome;Early endosome membrane;Endoplasmic reticulum NA PE1 8 +NX_Q9H8W5 580 64359 8.26 0 Cytosol;Cytoplasm;Nucleus;Cytoskeleton NA PE1 1 +NX_Q9H8X2 491 56017 8.67 0 Cytosol;Cytoplasm;Nucleus NA PE1 9 +NX_Q9H8X3 128 13648 8.17 0 NA NA PE5 6 +NX_Q9H8X9 412 45975 8.65 4 Membrane NA PE1 5 +NX_Q9H8Y1 702 78260 9.17 0 Nucleoplasm NA PE1 14 +NX_Q9H8Y5 726 80927 8.69 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 2 +NX_Q9H8Y8 452 47145 4.73 0 Golgi apparatus;Golgi apparatus membrane;Membrane;Membrane NA PE1 2 +NX_Q9H900 591 67214 5.85 0 Kinetochore NA PE1 15 +NX_Q9H902 201 22255 9.52 2 Membrane;Mitochondrion membrane;Endoplasmic reticulum Spastic paraplegia 31, autosomal dominant;Neuronopathy, distal hereditary motor, 5B PE1 2 +NX_Q9H903 347 37315 9.38 0 Cytoplasm;Mitochondrion inner membrane NA PE1 4 +NX_Q9H910 190 20063 9.3 0 Cytosol;Nucleus;Cytoplasm;Cell membrane NA PE1 16 +NX_Q9H920 327 37882 6.6 6 Membrane;Nucleus;Cytoplasmic vesicle;Golgi apparatus NA PE1 11 +NX_Q9H930 580 67005 8.79 0 Nucleoplasm NA PE1 2 +NX_Q9H936 323 34470 9.42 6 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane Epileptic encephalopathy, early infantile, 3 PE1 11 +NX_Q9H939 334 38858 8.72 0 Membrane;Mitochondrion;Cell membrane;Nucleus;Cytoplasm NA PE1 18 +NX_Q9H944 212 23222 6.42 0 Nucleus;Nucleoplasm;Centrosome NA PE1 6 +NX_Q9H963 129 15019 9.39 0 Nucleus NA PE5 19 +NX_Q9H967 626 69769 9.35 0 Nucleolus;Nucleus NA PE1 15 +NX_Q9H972 538 58697 5.71 0 Secreted;Cell membrane;Nucleus NA PE1 14 +NX_Q9H974 415 46713 6.36 0 Cytoplasm;Mitochondrion outer membrane;Nucleoplasm;Cytoskeleton NA PE1 3 +NX_Q9H977 334 35891 5.77 0 Cytosol;Cytoplasmic vesicle NA PE1 2 +NX_Q9H981 624 70484 7.86 0 Centrosome;Nucleus;Nucleus;Chromosome NA PE1 3 +NX_Q9H987 977 102481 9.77 0 Nucleus speckle;Cell junction;Cytosol;Cytoskeleton NA PE1 10 +NX_Q9H992 704 78051 6.32 0 Cytosol;Cell membrane NA PE1 2 +NX_Q9H993 441 51172 5.48 0 Nucleus;Nucleus;Cytosol NA PE1 6 +NX_Q9H999 370 41094 6.13 0 Golgi apparatus;Nucleoplasm;Cytoplasm NA PE1 5 +NX_Q9H9A5 744 82310 7.95 0 Nucleoplasm;Centrosome;Cytosol;Cytoplasm;Nucleus NA PE1 3 +NX_Q9H9A6 602 68250 6.04 0 Nucleolus NA PE1 1 +NX_Q9H9A7 625 70144 4.86 0 Nucleoplasm;Nucleus;Nucleus NA PE1 9 +NX_Q9H9B1 1298 141466 5.5 0 Nucleus;Chromosome;Nucleus;Nucleoplasm Kleefstra syndrome PE1 9 +NX_Q9H9B4 322 35619 9.22 5 Mitochondrion membrane;Mitochondrion NA PE1 5 +NX_Q9H9C1 493 57005 6.94 0 Cytoplasm;Cytoplasmic vesicle;Early endosome;Recycling endosome;Late endosome Arthrogryposis, renal dysfunction and cholestasis syndrome 2 PE1 14 +NX_Q9H9D4 720 78439 6.88 0 Microtubule organizing center;Cytosol;Nucleus Retinitis pigmentosa 72;Vitreoretinopathy, exudative 6 PE1 11 +NX_Q9H9E1 313 34272 4.99 0 Cytoskeleton;Cell junction;Cell membrane;Membrane NA PE1 5 +NX_Q9H9E3 785 89083 5.09 0 Cytoplasmic vesicle;Golgi apparatus;Golgi apparatus membrane Congenital disorder of glycosylation 2J PE1 16 +NX_Q9H9F9 607 68297 5.17 0 Cytoplasm;Nucleus NA PE1 20 +NX_Q9H9G7 860 97360 9.26 0 Nucleoplasm;Cytosol;P-body NA PE1 1 +NX_Q9H9H4 285 31307 6.78 0 Late endosome membrane NA PE1 12 +NX_Q9H9H5 199 21005 10.08 0 Cytoskeleton;Cytosol;Golgi apparatus NA PE1 3 +NX_Q9H9J2 332 37535 8.65 0 Cell membrane;Nucleus;Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 16 PE1 2 +NX_Q9H9J4 1324 145392 8.87 0 Nucleus NA PE1 7 +NX_Q9H9K5 563 63547 8.16 1 Nucleus;Membrane;Virion;Cytosol NA PE1 4 +NX_Q9H9L3 353 39154 9.94 0 Nucleolus;Nucleoplasm NA PE1 1 +NX_Q9H9L4 492 55042 6.18 0 Cytosol;Nucleus;Cell membrane;Nucleoplasm NA PE1 12 +NX_Q9H9L7 192 21867 8.91 0 Nucleoplasm;Nucleus;Nucleus membrane NA PE1 1 +NX_Q9H9P2 273 30431 6.38 1 Cytoplasm;Membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 21 +NX_Q9H9P5 680 73828 8.42 0 Cytosol;Cytoplasm;Nucleus NA PE1 16 +NX_Q9H9P8 463 50316 8.45 0 Mitochondrion;Mitochondrion L-2-hydroxyglutaric aciduria PE1 14 +NX_Q9H9Q2 264 29622 5.83 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 2 +NX_Q9H9Q4 299 33337 5.65 0 Nucleus;Nucleolus;Nucleus Severe combined immunodeficiency due to NHEJ1 deficiency PE1 2 +NX_Q9H9R9 158 17042 4.26 0 Nucleus speckle;Cytosol NA PE1 16 +NX_Q9H9S0 305 34620 6.32 0 Nucleus NA PE1 12 +NX_Q9H9S3 476 52248 8.31 10 Endoplasmic reticulum membrane NA PE1 10 +NX_Q9H9S4 337 39088 8.49 0 Cytoplasmic vesicle NA PE1 13 +NX_Q9H9S5 495 54568 7.05 1 Nucleus;Golgi apparatus;Cytosol;Secreted;Rough endoplasmic reticulum;Golgi apparatus membrane;Sarcolemma Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5;Muscular dystrophy-dystroglycanopathy limb-girdle C5;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 PE1 19 +NX_Q9H9T3 547 62259 9.04 0 Cytoplasm;Cytoplasm;Nucleus NA PE1 8 +NX_Q9H9V4 155 17475 8.21 1 Golgi apparatus;Endoplasmic reticulum;Membrane NA PE1 8 +NX_Q9H9V9 463 52493 5.79 0 Cytoplasmic vesicle;Cell membrane NA PE1 1 +NX_Q9H9Y2 349 40111 10.01 0 Nucleolus;Nucleolus NA PE1 1 +NX_Q9H9Y4 310 34561 5.07 0 NA NA PE1 1 +NX_Q9H9Y6 1135 128229 8.07 0 Nucleolus;Cytosol;Nucleolus NA PE1 2 +NX_Q9H9Z2 209 22743 8.35 0 Cytoplasm;Nucleoplasm;Nucleolus;Rough endoplasmic reticulum NA PE1 1 +NX_Q9HA38 289 32059 9.12 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 3 +NX_Q9HA47 277 31435 6.8 0 Nucleus NA PE1 9 +NX_Q9HA64 309 34412 6.84 0 Cytoplasm;Nucleoplasm NA PE1 17 +NX_Q9HA65 648 72728 5.05 0 Autophagosome NA PE1 19 +NX_Q9HA72 323 36175 7.61 4 Cytosol;Mitochondrion;Nucleoplasm;Membrane NA PE1 10 +NX_Q9HA77 564 62224 8.58 0 Nucleoplasm;Mitochondrion;Mitochondrion matrix Combined oxidative phosphorylation deficiency 27 PE1 13 +NX_Q9HA82 394 46399 9.19 6 Endoplasmic reticulum;Nucleus;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Nucleus membrane NA PE1 19 +NX_Q9HA90 598 65701 5.44 0 NA NA PE1 3 +NX_Q9HA92 442 48714 7.7 0 Cytosol;Mitochondrion;Cell membrane;Nucleoplasm NA PE1 17 +NX_Q9HAA7 133 14475 9.61 0 NA NA PE5 21 +NX_Q9HAB3 445 45777 6.73 11 Cell membrane Brown-Vialetto-Van Laere syndrome 2 PE1 8 +NX_Q9HAB8 311 34005 6.26 0 Mitochondrion;Nucleus;Nucleolus NA PE1 1 +NX_Q9HAC7 445 48462 8.54 0 Mitochondrion Glutaric aciduria 3 PE1 7 +NX_Q9HAC8 227 25938 7.69 0 Cytosol;Cytoplasmic vesicle;Cell membrane NA PE1 10 +NX_Q9HAD4 459 51728 5.25 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA PE1 5 +NX_Q9HAE3 211 24488 4.91 0 Cell membrane;Nucleoplasm NA PE1 8 +NX_Q9HAF1 191 21635 9.32 0 Nucleus;Nucleolus;Kinetochore;Nucleoplasm NA PE1 1 +NX_Q9HAH1 456 51581 9.94 0 Nucleus;Nucleus NA PE1 19 +NX_Q9HAH7 460 48388 9.96 0 Nucleoplasm NA PE1 16 +NX_Q9HAI6 301 33894 4.94 0 NA NA PE1 X +NX_Q9HAJ7 183 20877 9.43 0 Nucleolus;Nucleus;Nucleolus NA PE1 5 +NX_Q9HAK2 575 62650 9.21 0 Nucleus NA PE1 8 +NX_Q9HAN9 279 31932 8.98 0 Nucleus;Nucleoplasm;Nucleus Leber congenital amaurosis 9 PE1 1 +NX_Q9HAP2 919 101185 8.61 0 Cytoplasm;Nucleus;Mitochondrion outer membrane NA PE1 12 +NX_Q9HAP6 207 22896 8.71 0 Cell membrane;Cell membrane;Basolateral cell membrane;Synaptosome;Cell junction;Postsynaptic density;Tight junction NA PE1 19 +NX_Q9HAQ2 790 89986 6.71 0 Nucleus;Cytoskeleton;Nucleolus NA PE1 3 +NX_Q9HAR2 1447 161812 5.99 7 Axon;Cell membrane;Cell junction NA PE1 4 +NX_Q9HAS0 396 44622 4.98 0 Cytosol;Golgi apparatus NA PE1 17 +NX_Q9HAS3 691 76930 7.56 13 Cell membrane;Endoplasmic reticulum membrane NA PE1 9 +NX_Q9HAT0 212 23893 5.52 0 Flagellum NA PE1 3 +NX_Q9HAT1 526 57129 7.73 1 Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE2 15 +NX_Q9HAT2 523 58315 6.93 0 Lysosome;Secreted Autoimmune disease 6 PE1 11 +NX_Q9HAT8 420 46435 6.97 0 Nucleolus;Cytoskeleton;Nucleus NA PE1 14 +NX_Q9HAU0 1116 127464 7.2 0 Cytoplasm;Nucleoplasm;Cytosol NA PE1 12 +NX_Q9HAU4 748 86196 8.18 0 Nucleus speckle;Nucleus;Cytoplasm;Membrane raft;Cell membrane NA PE1 17 +NX_Q9HAU5 1272 147810 5.5 0 Cytoplasm;Cytosol;Perinuclear region;Cytosol NA PE1 10 +NX_Q9HAU6 139 15994 5.42 0 NA NA PE5 8 +NX_Q9HAU8 725 80000 5.06 0 Nucleus;Nucleolus NA PE1 2 +NX_Q9HAV0 340 37567 5.59 0 NA Charcot-Marie-Tooth disease, dominant, intermediate type, F PE1 3 +NX_Q9HAV4 1204 136311 5.56 0 Nucleus;Nucleoplasm;Cytoplasm NA PE1 6 +NX_Q9HAV5 297 32759 4.91 1 Cell junction;Membrane NA PE1 X +NX_Q9HAV7 217 24279 8.24 0 Mitochondrion;Mitochondrion matrix NA PE1 4 +NX_Q9HAW0 419 46533 8.29 0 Nucleus;Nucleolus NA PE1 8 +NX_Q9HAW4 1339 151094 4.74 0 Nucleoplasm;Golgi apparatus;Nucleus NA PE1 1 +NX_Q9HAW7 530 59819 7.88 1 Endoplasmic reticulum membrane;Microsome NA PE1 2 +NX_Q9HAW8 530 59810 6.88 1 Microsome;Endoplasmic reticulum membrane NA PE1 2 +NX_Q9HAW9 530 59742 7.6 1 Endoplasmic reticulum membrane;Microsome NA PE1 2 +NX_Q9HAY2 307 35222 9.71 0 Cytoskeleton NA PE1 3 +NX_Q9HAY6 547 62637 6.21 0 Microtubule organizing center;Cytoskeleton Hypercarotenemia and vitamin A deficiency, autosomal dominant PE1 16 +NX_Q9HAZ1 481 57492 8.92 0 Cytoskeleton;Nucleus NA PE1 5 +NX_Q9HAZ2 1276 140251 5.81 0 Nucleoplasm;Nucleus Left ventricular non-compaction 8;Cardiomyopathy, dilated 1LL PE1 1 +NX_Q9HB03 270 31500 9.55 7 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cytosol NA PE1 10 +NX_Q9HB07 376 42449 6.19 0 Nucleus;Mitochondrion;Nucleoplasm NA PE1 12 +NX_Q9HB09 334 36821 9.45 0 Cytosol NA PE1 19 +NX_Q9HB14 408 45391 8.73 4 Membrane;Cell junction;Nucleus speckle NA PE1 14 +NX_Q9HB15 430 46889 9.89 4 Membrane NA PE1 2 +NX_Q9HB19 425 47255 8.92 0 Nucleus;Nucleus;Cytosol;Cytoplasm;Cell membrane;Nucleus NA PE1 8 +NX_Q9HB20 300 33861 6.19 0 trans-Golgi network membrane;Golgi apparatus NA PE1 2 +NX_Q9HB21 404 45553 8.77 0 Cytoplasm;Cell membrane;Cytosol;Nucleus;Nucleus NA PE1 10 +NX_Q9HB29 575 65405 7.24 1 Membrane NA PE1 2 +NX_Q9HB31 216 22879 9.12 0 Nucleus NA PE3 17 +NX_Q9HB40 452 50831 5.6 0 Secreted;Golgi apparatus NA PE1 17 +NX_Q9HB55 503 57670 8.27 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 7 +NX_Q9HB58 689 78396 9.1 0 Nucleus;Nucleus Hepatic venoocclusive disease with immunodeficiency PE1 2 +NX_Q9HB63 628 70071 8.44 0 Basement membrane NA PE1 12 +NX_Q9HB65 397 45361 5.73 0 Nucleus;Nucleoplasm;Nucleolus NA PE1 15 +NX_Q9HB71 228 26210 8.28 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 1 +NX_Q9HB75 910 99712 6.01 0 Cytoplasm;Cytosol;Nucleus;Golgi apparatus NA PE1 11 +NX_Q9HB89 426 47351 9.06 7 Cell membrane NA PE2 2 +NX_Q9HB90 399 44224 4.94 0 Nucleus;Nucleus;Lysosome;Cytoplasmic vesicle;Cytoplasm NA PE1 1 +NX_Q9HB96 536 58711 5.17 0 Nucleoplasm;Nucleus Fanconi anemia complementation group E PE1 6 +NX_Q9HBA0 871 98281 7.83 6 Cell membrane;Cilium;Adherens junction;Apical cell membrane Parastremmatic dwarfism;Metatropic dysplasia;Scapuloperoneal spinal muscular atrophy;Spondylometaphyseal dysplasia Kozlowski type;Brachyolmia 3;Avascular necrosis of the femoral head, primary 2;Digital arthropathy-brachydactyly, familial;Spondyloepiphyseal dysplasia Maroteaux type;Neuronopathy, distal hereditary motor, 8;Charcot-Marie-Tooth disease 2C PE1 12 +NX_Q9HBA9 442 50045 6.53 0 Cytoplasm NA PE2 11 +NX_Q9HBB8 845 88223 4.81 1 Microvillus membrane;Apical cell membrane NA PE1 11 +NX_Q9HBD1 1191 131669 6.43 0 P-body;Cytosol NA PE1 9 +NX_Q9HBE1 687 74060 8.71 0 Nucleoplasm;Nucleus NA PE1 22 +NX_Q9HBE4 155 17923 9.42 0 Secreted Immunodeficiency, common variable, 11 PE1 4 +NX_Q9HBE5 538 59130 4.57 1 Cytosol;Membrane;Cell membrane IL21R immunodeficiency PE1 16 +NX_Q9HBF4 777 87176 7.29 0 Golgi stack;Endoplasmic reticulum NA PE1 14 +NX_Q9HBF5 79 9024 8.52 0 NA NA PE2 15 +NX_Q9HBG4 840 96386 5.75 8 Cytosol;Apical cell membrane Renal tubular acidosis, distal, autosomal recessive PE1 7 +NX_Q9HBG6 1241 141825 6.08 0 Cytosol;Nucleoplasm;Cytoplasm;Cilium;Cilium basal body Cranioectodermal dysplasia 1 PE1 3 +NX_Q9HBG7 655 72139 5.36 1 Membrane;Cell membrane NA PE1 1 +NX_Q9HBH0 211 23625 8.9 0 Golgi apparatus;Nucleus;Cell membrane;Cytoskeleton NA PE1 12 +NX_Q9HBH1 243 27013 9.48 0 Mitochondrion;Nucleoplasm;Mitochondrion NA PE1 16 +NX_Q9HBH5 336 36865 9.02 0 Endoplasmic reticulum;Nucleoplasm;Cytosol NA PE1 2 +NX_Q9HBH7 125 14860 6.31 0 Cytoplasm;Nucleus NA PE1 X +NX_Q9HBH9 465 51875 5.8 0 Cytoplasm;Nucleus;Nucleolus;Nucleus;PML body NA PE1 19 +NX_Q9HBI0 331 37485 5.32 0 Cell membrane;Cytoskeleton;Focal adhesion NA PE1 22 +NX_Q9HBI1 364 41714 6.26 0 Focal adhesion;Cytosol;Cell membrane;Cytoskeleton;Z line;Sarcomere;Lamellipodium NA PE1 22 +NX_Q9HBI5 128 15007 5.67 0 Cytosol;Cell membrane NA PE1 3 +NX_Q9HBI6 524 60146 6.26 1 Microsome membrane NA PE1 19 +NX_Q9HBJ0 212 23616 6.23 0 Cell membrane;Nucleus;Secreted NA PE2 X +NX_Q9HBJ7 922 104156 5.62 0 NA NA PE2 19 +NX_Q9HBJ8 222 25235 5.43 1 Membrane;Cytoplasmic vesicle;Endoplasmic reticulum NA PE1 X +NX_Q9HBK9 375 41748 5.83 0 Cytoplasm NA PE1 10 +NX_Q9HBL0 1735 185701 7.55 0 Focal adhesion;Cytoskeleton;Focal adhesion;Cell surface NA PE1 2 +NX_Q9HBL6 345 38171 6.26 1 Membrane NA PE2 3 +NX_Q9HBL7 147 17201 9.58 2 Mitochondrion;Cell membrane NA PE1 9 +NX_Q9HBL8 299 33344 7.06 0 Nucleus;Cytoplasm;Perinuclear region;Nucleus NA PE1 16 +NX_Q9HBM0 779 88665 5.11 2 Cytosol;Cell membrane;Adherens junction;Nucleus;Acrosome;Nucleoplasm NA PE1 12 +NX_Q9HBM1 224 26153 7.7 0 Cytosol;Nucleus;Kinetochore NA PE1 2 +NX_Q9HBM6 251 27622 9.58 0 Nucleus NA PE1 X +NX_Q9HBQ8 144 15482 5.27 0 NA NA PE5 12 +NX_Q9HBR0 1119 119762 5.51 10 Golgi apparatus;Membrane NA PE1 17 +NX_Q9HBT6 801 88993 4.54 1 Cell membrane NA PE1 18 +NX_Q9HBT7 754 87565 8.8 0 Golgi apparatus;Nucleus NA PE1 17 +NX_Q9HBT8 521 60175 8.64 0 Nucleolus;Nucleus NA PE1 17 +NX_Q9HBU1 254 27298 9.72 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 9 +NX_Q9HBU6 452 50968 6.09 0 Cell membrane;Cytosol;Cytoplasm;Nucleoplasm NA PE1 12 +NX_Q9HBU9 364 40448 5.23 2 Membrane;Sarcolemma NA PE1 3 +NX_Q9HBV1 291 33870 8.12 3 Membrane;Nucleolus;Cytosol NA PE2 6 +NX_Q9HBV2 294 32143 4.57 1 Membrane NA PE1 6 +NX_Q9HBW0 351 39084 9.48 7 Cell membrane;Cell surface NA PE1 19 +NX_Q9HBW1 653 72717 6.58 1 Membrane;Golgi apparatus;Postsynaptic cell membrane NA PE1 7 +NX_Q9HBW9 690 77811 7.81 7 Cell membrane NA PE1 1 +NX_Q9HBX3 110 12922 8.84 0 NA NA PE4 7 +NX_Q9HBX8 967 104298 5.43 7 Cell membrane;Nucleoplasm;Cell membrane NA PE1 1 +NX_Q9HBX9 757 86975 8.39 7 Cell membrane NA PE1 4 +NX_Q9HBY0 568 64935 8.28 6 Cytoplasmic vesicle;Membrane NA PE1 6 +NX_Q9HBY8 427 47604 7.16 0 Cytoplasm;Nucleus;Nucleoplasm NA PE1 20 +NX_Q9HBZ2 717 78691 6.25 0 Nucleus;Nucleus;Mitochondrion Webb-Dattani syndrome PE1 15 +NX_Q9HC07 324 34906 6.53 6 Golgi apparatus membrane;Cytoplasmic vesicle;trans-Golgi network membrane;Golgi apparatus;Late endosome membrane;Lysosome membrane;Early endosome membrane Congenital disorder of glycosylation 2K PE1 4 +NX_Q9HC10 1997 226753 5.49 1 Basolateral cell membrane;Endoplasmic reticulum membrane;Synaptic vesicle membrane;Cell membrane Auditory neuropathy, autosomal recessive, 1;Deafness, autosomal recessive, 9 PE1 2 +NX_Q9HC16 384 46408 8.28 0 Nucleus;P-body;Cytoplasm NA PE1 22 +NX_Q9HC21 320 35511 9.61 6 Mitochondrion inner membrane Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type;Microcephaly, Amish type PE1 17 +NX_Q9HC23 129 14314 10.12 0 Secreted Hypogonadotropic hypogonadism 4 with or without anosmia PE1 3 +NX_Q9HC24 238 26971 6.58 6 Golgi apparatus membrane NA PE1 12 +NX_Q9HC29 1040 115283 6.3 0 Golgi apparatus;Cytosol;Cytoplasm;Membrane;Basolateral cell membrane Blau syndrome;Yao syndrome;Inflammatory bowel disease 1 PE1 16 +NX_Q9HC35 981 108916 5.96 0 Cytosol;Cytoskeleton;Cytoskeleton;Cytoskeleton NA PE1 2 +NX_Q9HC36 420 47020 8.89 0 Mitochondrion;Mitochondrion NA PE1 17 +NX_Q9HC38 313 34793 5.4 0 Cytosol;Mitochondrion;Nucleus;Nucleolus NA PE1 17 +NX_Q9HC44 474 52302 6.36 0 Nucleus;Focal adhesion;Cell membrane;Nucleoplasm NA PE1 1 +NX_Q9HC47 74 8406 5.3 2 Membrane NA PE2 18 +NX_Q9HC52 389 43396 9.92 0 Nucleoplasm;Nucleus NA PE1 17 +NX_Q9HC56 1237 136064 5.26 1 Nucleoplasm;Centrosome;Cell membrane NA PE1 13 +NX_Q9HC57 220 23977 8.77 0 Secreted NA PE1 16 +NX_Q9HC58 644 71992 5.19 10 Membrane NA PE1 20 +NX_Q9HC62 589 67855 9.54 0 Cytosol;Cytoplasm;Nucleus membrane;Nuclear pore complex NA PE1 3 +NX_Q9HC73 371 42013 5.11 1 Cell membrane;Secreted NA PE1 X +NX_Q9HC77 1338 153000 6.23 0 Centrosome;Centrosome;Centriole;Cell membrane;Nucleoplasm Seckel syndrome 4;Microcephaly 6, primary, autosomal recessive PE1 13 +NX_Q9HC78 741 81083 6.03 0 Nucleus;Nucleus;Nucleus;Nucleoplasm Primrose syndrome PE1 3 +NX_Q9HC84 5762 596340 6.2 0 Secreted;Cytoplasmic vesicle Pulmonary fibrosis, idiopathic PE1 11 +NX_Q9HC96 672 74952 7.97 0 Nucleoplasm;Cytosol Diabetes mellitus, non-insulin-dependent, 1 PE1 2 +NX_Q9HC97 309 34072 9.06 7 Cell membrane NA PE1 2 +NX_Q9HC98 313 35714 8.26 0 Cytoplasm;Nucleus;Microtubule organizing center;Nucleus speckle;Spindle pole;Centrosome;Cytosol;Nucleoplasm NA PE1 9 +NX_Q9HCB6 807 90973 5.85 0 Extracellular matrix NA PE1 11 +NX_Q9HCC0 563 61333 7.58 0 Mitochondrion;Mitochondrion matrix 3-methylcrotonoyl-CoA carboxylase 2 deficiency PE1 5 +NX_Q9HCC6 221 23523 11.11 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA PE2 1 +NX_Q9HCC8 539 61729 8.77 6 Cell membrane;Cytoplasm;Cytoskeleton NA PE1 X +NX_Q9HCC9 887 96490 4.99 0 Early endosome membrane;Cytosol;Cytosol;Cell membrane;Nucleus NA PE1 4 +NX_Q9HCD5 579 65536 9.62 0 Nucleus;Cytoskeleton;Nucleus NA PE1 20 +NX_Q9HCD6 1990 219650 8.31 0 Cytosol NA PE1 17 +NX_Q9HCE0 2579 292481 5.99 0 Nucleus speckle Vici syndrome PE1 18 +NX_Q9HCE1 1003 113671 9 0 Cytosol;P-body NA PE1 1 +NX_Q9HCE3 1301 141696 8.92 0 Golgi apparatus;Nucleoplasm;Nucleus NA PE1 18 +NX_Q9HCE5 456 52150 5.89 0 Nucleus;Nucleoplasm NA PE1 4 +NX_Q9HCE6 1279 140409 5.59 0 Cytoplasmic vesicle;Cytosol;Golgi apparatus;Cytoplasm NA PE1 1 +NX_Q9HCE7 757 86114 6.56 0 Cytoplasm;Cell membrane NA PE1 7 +NX_Q9HCE9 1232 136034 5.62 8 Nucleoplasm;Cell membrane;Nucleolus NA PE1 19 +NX_Q9HCF6 1732 197571 6.74 7 Membrane NA PE1 9 +NX_Q9HCG1 818 94112 9.44 0 Nucleus speckle;Nucleus;Cytosol NA PE1 19 +NX_Q9HCG7 927 104649 5.61 0 Golgi apparatus;Endoplasmic reticulum membrane;Cytosol;Nucleoplasm;Golgi apparatus membrane Spastic paraplegia 46, autosomal recessive PE1 9 +NX_Q9HCG8 908 105466 6.6 0 Nucleus speckle;Cytosol;Nucleus;Nucleus speckle NA PE1 2 +NX_Q9HCH0 1330 139013 8.45 0 Centrosome;Golgi apparatus NA PE1 12 +NX_Q9HCH3 593 65734 5.65 0 Cell projection;Perikaryon;Cytosol NA PE1 6 +NX_Q9HCH5 934 104930 7.96 0 Cell membrane;Nucleus;Cell membrane;Golgi apparatus;Cytoplasm NA PE1 11 +NX_Q9HCI5 957 103254 5.24 0 Cytoskeleton;Perinuclear region;Cytosol;Nucleus;Cell membrane NA PE1 X +NX_Q9HCI6 787 89673 7.78 0 Nucleus membrane;Nucleus NA PE1 6 +NX_Q9HCI7 577 62541 8.11 0 Cytosol NA PE1 3 +NX_Q9HCJ0 1690 175964 6.47 0 Nucleus NA PE1 17 +NX_Q9HCJ1 492 54241 8 8 Cytosol;Membrane Craniometaphyseal dysplasia, autosomal dominant;Chondrocalcinosis 2 PE1 5 +NX_Q9HCJ2 640 71950 6.7 1 Cytosol;Postsynaptic cell membrane NA PE1 11 +NX_Q9HCJ3 691 74339 7.12 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 1 +NX_Q9HCJ5 1215 133470 7.01 0 Cytosol Acromelic frontonasal dysostosis PE1 5 +NX_Q9HCJ6 419 45899 4.98 0 Cytosol NA PE1 16 +NX_Q9HCK0 441 49953 6.62 0 Nucleus NA PE1 9 +NX_Q9HCK1 2354 265618 5.79 0 Nucleoplasm;Cytosol NA PE1 2 +NX_Q9HCK4 1378 151200 5.95 1 Membrane;Microtubule organizing center;Nucleus Vesicoureteral reflux 2 PE1 3 +NX_Q9HCK5 861 97097 9.21 0 P-body;Nucleus;Nucleoplasm;Cytosol NA PE1 1 +NX_Q9HCK8 2581 290519 6.04 0 Nucleoplasm;Nucleus Autism 18 PE1 14 +NX_Q9HCL0 1135 126149 4.99 1 Cell membrane;Golgi apparatus;Cytosol NA PE1 4 +NX_Q9HCL2 828 93795 7.81 2 Mitochondrion;Mitochondrion;Mitochondrion outer membrane NA PE1 10 +NX_Q9HCL3 533 63463 8.92 0 Nucleus speckle;Nucleus NA PE1 19 +NX_Q9HCM1 1747 194857 8.95 0 Cytosol;Cytoskeleton;Nucleolus NA PE1 12 +NX_Q9HCM2 1894 212455 6.42 1 Cell membrane NA PE1 7 +NX_Q9HCM3 1950 210755 5.75 2 Membrane;Nucleus membrane;Cytoskeleton NA PE1 7 +NX_Q9HCM4 733 81856 6.15 0 Cytoplasm;Cell membrane;Adherens junction NA PE1 2 +NX_Q9HCM7 1045 110907 9.7 0 Cytosol;Cell membrane;Nucleus NA PE1 12 +NX_Q9HCM9 518 59690 7.8 0 Cytosol;Cytosol;Mitochondrion NA PE1 6 +NX_Q9HCN2 124 12935 10.26 0 Mitochondrion NA PE2 11 +NX_Q9HCN3 771 84761 7.67 7 Cytoskeleton;Nucleoplasm;Cell membrane;Lysosome membrane NA PE1 16 +NX_Q9HCN4 374 41740 4.8 0 Nucleoplasm;Mitochondrion;Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q9HCN6 339 36866 9.35 1 Cell membrane;Nucleoplasm Bleeding disorder, platelet-type 11 PE1 19 +NX_Q9HCN8 221 23598 6.52 0 Endoplasmic reticulum lumen NA PE1 22 +NX_Q9HCP0 422 48511 9.13 0 Cytosol;Cytoplasm NA PE1 15 +NX_Q9HCP6 504 56703 6.67 8 Endoplasmic reticulum membrane NA PE1 3 +NX_Q9HCQ5 603 68359 8.73 1 Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 12 +NX_Q9HCQ7 196 22309 9.26 0 Secreted NA PE1 7 +NX_Q9HCR9 933 104752 6.15 0 Cytosol Primary pigmented nodular adrenocortical disease 2 PE1 2 +NX_Q9HCS2 524 60270 7.02 2 Endoplasmic reticulum membrane;Microsome membrane NA PE1 19 +NX_Q9HCS4 588 62631 9 0 Cytosol;Nucleus;Nucleoplasm NA PE1 2 +NX_Q9HCS5 686 79059 9.44 0 Cell membrane;Cytoskeleton;Nucleoplasm NA PE1 5 +NX_Q9HCS7 855 100010 5.87 0 Cytoplasmic vesicle;Nucleus;Nucleus NA PE1 19 +NX_Q9HCT0 170 19663 11.81 0 Secreted NA PE1 19 +NX_Q9HCU0 757 80859 5.18 1 Membrane;Cell membrane;Nucleoplasm NA PE1 11 +NX_Q9HCU4 2923 317453 5.14 7 Cytosol;Cell membrane NA PE1 1 +NX_Q9HCU5 417 45468 8.02 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus NA PE1 2 +NX_Q9HCU8 107 12433 6.29 0 Nucleus;Cytosol;Mitochondrion;Nucleolus;Nucleus NA PE1 11 +NX_Q9HCU9 246 28461 4.69 0 Endoplasmic reticulum;Centrosome;Nucleus;Cytoplasm NA PE1 11 +NX_Q9HCX3 659 75047 8.73 0 Nucleus;Nucleus speckle NA PE1 19 +NX_Q9HCX4 862 99562 8.02 6 Nucleus envelope;Cell membrane;Cytoskeleton;Focal adhesion NA PE1 5 +NX_Q9HCY8 104 11662 5.16 0 Nucleus;Cytoplasm;Cell junction;Cytosol NA PE1 1 +NX_Q9HCZ1 680 79649 9.33 0 Nucleus;Nucleus;Cytosol NA PE1 20 +NX_Q9HD15 236 25673 6.54 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm;Cytoskeleton NA PE1 5 +NX_Q9HD20 1204 132955 8.46 10 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA PE1 19 +NX_Q9HD23 443 50318 6.44 2 Mitochondrion inner membrane NA PE1 6 +NX_Q9HD26 462 50520 5.59 0 Golgi apparatus membrane;Golgi apparatus;trans-Golgi network membrane;Cytoplasm;Synapse;Cytosol;Postsynaptic density;Dendrite NA PE1 6 +NX_Q9HD33 250 29450 10.38 0 Mitochondrion;Mitochondrion NA PE1 3 +NX_Q9HD34 91 10758 10.73 0 Nucleus;Mitochondrion;Nucleus Combined oxidative phosphorylation deficiency 19 PE1 6 +NX_Q9HD36 194 21973 9.63 1 Mitochondrion;Nucleus membrane NA PE1 15 +NX_Q9HD40 501 55726 8.31 0 Cytoplasmic vesicle;Cytoplasm Pontocerebellar hypoplasia 2D PE1 4 +NX_Q9HD42 196 21703 7.77 0 Endosome membrane;Nucleus matrix;Cytoplasm Pontocerebellar hypoplasia 8 PE1 16 +NX_Q9HD43 1115 122352 5.21 1 Apical cell membrane;Microvillus membrane;Cytoplasm;Mitochondrion NA PE1 19 +NX_Q9HD45 589 67888 6.83 9 Membrane;Cytoplasmic vesicle;Golgi apparatus NA PE1 10 +NX_Q9HD47 186 20448 4.8 0 Nucleus;Nucleoplasm;Cytoplasm NA PE1 17 +NX_Q9HD64 81 9078 9.65 0 Nucleus speckle NA PE1 X +NX_Q9HD67 2058 237347 5.85 0 Cytosol;Lamellipodium;Ruffle;Nucleolus;Cytoskeleton;Filopodium tip;Cell cortex;Cell membrane;Cytosol;Filopodium membrane NA PE1 5 +NX_Q9HD87 102 12368 8.35 1 Membrane NA PE5 6 +NX_Q9HD89 108 11419 6.52 0 Secreted NA PE1 19 +NX_Q9HD90 331 37041 6.37 0 Nucleus NA PE1 12 +NX_Q9HDB5 637 69305 6.75 1 Membrane NA PE1 14 +NX_Q9HDB8 245 27904 5.6 0 Virion NA PE2 3 +NX_Q9HDB9 667 73588 9.26 0 Cell membrane NA PE1 3 +NX_Q9HDC5 661 71686 9.37 1 Cell membrane;Endoplasmic reticulum membrane;Nucleus;Sarcoplasmic reticulum membrane NA PE1 8 +NX_Q9HDC9 416 46480 5.82 1 Membrane;Cell membrane NA PE1 20 +NX_Q9HDD0 168 18750 5.37 1 Membrane;Focal adhesion;Cytosol NA PE2 3 +NX_Q9N2J8 555 60911 8.88 1 Cell membrane;Virion NA PE2 2 +NX_Q9N2K0 584 64318 8.61 1 Virion;Cell membrane NA PE2 2 +NX_Q9NNW5 1121 121725 6.41 0 Cytosol;Cell membrane;Cytoplasm NA PE1 3 +NX_Q9NNW7 524 56507 7.24 0 Nucleus;Cytoplasm;Mitochondrion;Cytosol;Mitochondrion NA PE1 22 +NX_Q9NNX1 390 44264 5.68 0 Cytoplasm;Cytoplasmic vesicle;Secreted NA PE1 1 +NX_Q9NNX6 404 45775 5.43 1 Cell membrane;Secreted NA PE1 19 +NX_Q9NNX9 186 20020 4.51 0 NA NA PE2 X +NX_Q9NNZ3 241 27593 10.56 1 Membrane NA PE1 11 +NX_Q9NNZ6 103 11232 4.56 0 Nucleus;Chromosome NA PE1 16 +NX_Q9NP08 348 36155 6.28 0 Nucleus Oculoauricular syndrome PE1 4 +NX_Q9NP31 389 42934 6.96 0 Cytoplasm NA PE1 1 +NX_Q9NP50 221 24852 9.51 0 Nucleus;Cytosol;Nucleus;Nucleoplasm NA PE1 12 +NX_Q9NP55 256 26713 5.42 0 Secreted NA PE1 20 +NX_Q9NP56 450 51835 6.54 0 Nucleoplasm NA PE1 6 +NX_Q9NP58 842 93886 8.75 10 Cytosol;Golgi apparatus;Cell membrane;Mitochondrion;Cell membrane;Mitochondrion outer membrane;Golgi apparatus membrane;Endosome membrane;Nucleoplasm;Endoplasmic reticulum membrane Pseudohyperkalemia, familial, 2, due to red cell leak;Microphthalmia, isolated, with coloboma, 7;Dyschromatosis universalis hereditaria 3 PE1 2 +NX_Q9NP59 571 62542 6.08 10 Cell membrane;Cytosol;Cell membrane;Nucleoplasm;Cell membrane Hemochromatosis 4 PE1 2 +NX_Q9NP60 686 78670 6.05 1 Membrane NA PE2 X +NX_Q9NP61 516 56928 7.04 0 Cytosol;Cytoplasm;Golgi apparatus membrane;Golgi apparatus NA PE1 22 +NX_Q9NP62 436 49268 6.57 0 Cytoplasmic vesicle;Nucleus NA PE2 6 +NX_Q9NP64 241 27570 9.72 0 Nucleus speckle;Nucleolus NA PE1 1 +NX_Q9NP66 347 40144 6.08 0 Nucleus;Nucleus NA PE1 15 +NX_Q9NP70 447 48283 4.79 0 Extracellular matrix Amelogenesis imperfecta 1F PE1 4 +NX_Q9NP71 852 93073 8.7 0 Nucleus;Nucleus NA PE1 7 +NX_Q9NP72 206 22977 5.11 0 Nucleus;Cytoplasm;Cell membrane Warburg micro syndrome 3 PE1 10 +NX_Q9NP73 1137 126056 6.28 0 Endoplasmic reticulum Epileptic encephalopathy, early infantile, 36 PE1 X +NX_Q9NP74 551 62758 5.31 0 Cytoskeleton;Cytoplasm;Dendrite;Dendritic spine;Focal adhesion;Cell membrane NA PE1 1 +NX_Q9NP77 194 22574 5.16 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 1 +NX_Q9NP78 766 84475 8 8 Cytoplasmic vesicle;Lysosome membrane NA PE1 12 +NX_Q9NP79 307 33879 5.87 0 Nucleoplasm;Cytosol;Cytoplasmic vesicle;Endosome membrane;Cytoplasm NA PE1 6 +NX_Q9NP80 782 88477 9.31 1 Cytoskeleton;Golgi apparatus;Nucleoplasm;Endoplasmic reticulum membrane;Cytosol;Perinuclear region;Golgi apparatus membrane Mitochondrial myopathy with lactic acidosis PE1 7 +NX_Q9NP81 518 58283 8.35 0 Mitochondrion matrix Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome PE1 19 +NX_Q9NP84 129 13911 9.37 1 Cell membrane;Cytosol;Membrane NA PE1 16 +NX_Q9NP85 383 42201 8.95 0 Cell membrane;Endoplasmic reticulum Nephrotic syndrome 2 PE1 1 +NX_Q9NP86 173 19826 4.45 0 Cytoplasm NA PE1 19 +NX_Q9NP87 494 54816 8.74 0 Nucleus;Nucleus NA PE1 7 +NX_Q9NP90 201 22719 4.74 0 Phagosome;Cell membrane;Phagosome membrane NA PE1 X +NX_Q9NP91 592 65914 6.25 12 Apical cell membrane Hyperglycinuria;Iminoglycinuria PE1 3 +NX_Q9NP92 439 50365 8.21 0 Mitochondrion NA PE1 5 +NX_Q9NP94 309 32742 5.85 8 Cell membrane NA PE1 14 +NX_Q9NP95 211 23499 8.89 0 Secreted Renal hypodysplasia/aplasia 2 PE1 8 +NX_Q9NP97 96 10922 6.58 0 Cytoplasm;Cytoskeleton NA PE1 20 +NX_Q9NP98 299 31745 8.86 0 Nucleus;Pseudopodium NA PE1 10 +NX_Q9NP99 234 26387 9 1 Secreted;Cell membrane NA PE1 6 +NX_Q9NPA0 242 26471 9.24 1 Nucleoplasm;Membrane NA PE1 15 +NX_Q9NPA1 279 31604 6.88 2 Nucleus;Mitochondrion;Membrane NA PE1 3 +NX_Q9NPA2 562 62554 8.76 0 Cell membrane;Extracellular matrix NA PE1 16 +NX_Q9NPA3 183 20202 5.25 0 Cytoplasm;Cytoskeleton;Nucleus NA PE1 X +NX_Q9NPA5 681 74644 8.77 0 Nucleus NA PE1 20 +NX_Q9NPA8 101 11529 9.39 0 Nucleus;Nucleoplasm;Nucleoplasm;Nuclear pore complex;Mitochondrion NA PE1 8 +NX_Q9NPB0 183 20163 8.95 1 Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA PE1 6 +NX_Q9NPB1 228 25862 8.21 0 Mitochondrion NA PE1 17 +NX_Q9NPB3 220 24482 4.6 0 Perinuclear region;Cell membrane;Golgi apparatus Deafness, autosomal recessive, 93 PE1 11 +NX_Q9NPB6 346 37388 9.29 0 Cell junction;Cytosol;Cytoplasm;Cell membrane;Ruffle;Tight junction;Centrosome;Centriolar satellite;Cytoskeleton NA PE1 16 +NX_Q9NPB8 672 76035 5.34 0 Nucleoplasm;Cytosol NA PE1 20 +NX_Q9NPB9 350 39914 8.8 7 Cytosol;Early endosome;Recycling endosome;Cell membrane NA PE1 3 +NX_Q9NPC1 389 41525 11 7 Cell membrane;Nucleoplasm;Cell membrane NA PE1 14 +NX_Q9NPC2 374 42264 8.85 4 Cell membrane Birk-Barel mental retardation dysmorphism syndrome PE1 8 +NX_Q9NPC3 277 31544 8.59 0 Nucleus;Chromosome NA PE1 14 +NX_Q9NPC4 353 40499 9.16 1 Golgi apparatus membrane;Mitochondrion NA PE1 22 +NX_Q9NPC6 264 29898 7.86 0 Z line;Nucleus;Cytosol Cardiomyopathy, familial hypertrophic 16 PE1 4 +NX_Q9NPC7 610 68682 8.56 0 Nucleus;Nucleus NA PE1 3 +NX_Q9NPC8 291 32286 9.14 0 Nucleus;Nucleoplasm;Nucleus membrane NA PE1 2 +NX_Q9NPD3 245 26383 6.07 0 Cytosol;Cytoskeleton;Cytoplasm;Nucleolus;Nucleus NA PE1 8 +NX_Q9NPD5 702 77403 9.01 12 Cell membrane;Basolateral cell membrane Hyperbilirubinemia, Rotor type PE1 12 +NX_Q9NPD7 142 15333 6.54 0 Cell membrane;Synapse NA PE1 6 +NX_Q9NPD8 197 22521 7.78 0 Nucleolus;Nucleus;Nucleus Fanconi anemia complementation group T PE1 1 +NX_Q9NPE2 291 32408 9.16 0 Nucleus;Cytoplasm;Nucleus;Secreted NA PE1 15 +NX_Q9NPE3 64 7706 10.01 0 Nucleolus;Cajal body;Nucleus Dyskeratosis congenita, autosomal recessive, 1 PE1 15 +NX_Q9NPE6 437 48165 6.65 2 Membrane;Nucleus inner membrane;Cytoskeleton;Flagellum axoneme;Nucleus envelope NA PE1 20 +NX_Q9NPF0 282 28991 4.61 1 Endoplasmic reticulum;Cell membrane;Cytosol Methylmalonic aciduria, transient, due to transcobalamin receptor defect PE1 19 +NX_Q9NPF2 352 41555 9.04 1 Golgi apparatus;Golgi apparatus membrane NA PE1 12 +NX_Q9NPF4 335 36427 5.94 0 Nucleus;Cell membrane;Nucleoplasm;Cytoplasm NA PE1 14 +NX_Q9NPF5 467 52993 9.51 0 Nucleus;Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 1 +NX_Q9NPF7 189 20730 6.02 0 Secreted;Cytosol NA PE1 12 +NX_Q9NPF8 381 44349 9.44 0 Cytoplasm;Cell membrane NA PE1 17 +NX_Q9NPG1 666 76263 7.94 7 Membrane;Cell membrane;Nucleoplasm;Cytoplasmic vesicle;Cell surface;Apical cell membrane NA PE1 8 +NX_Q9NPG2 151 16933 5.42 0 Mitochondrion;Perikaryon;Cytoplasm NA PE1 14 +NX_Q9NPG3 1134 121520 9.37 0 Nucleoplasm;PML body;Tight junction;Nucleoplasm;Nucleus NA PE1 16 +NX_Q9NPG4 1184 128995 5.13 1 Cell membrane;Cell junction NA PE1 5 +NX_Q9NPG8 344 39787 7.01 5 Endoplasmic reticulum membrane;Nucleus NA PE1 7 +NX_Q9NPH0 428 48854 6.04 0 Mitochondrion NA PE1 1 +NX_Q9NPH2 558 61068 5.52 0 Cytoplasm;Cytosol;Nucleus NA PE1 19 +NX_Q9NPH3 570 65418 8.37 1 Cytosol;Cytoplasmic vesicle;Cell membrane;Secreted NA PE1 3 +NX_Q9NPH5 578 66932 8.96 6 Nucleus;Endoplasmic reticulum membrane;Cell membrane;Focal adhesion;Nucleus;Nucleolus NA PE1 11 +NX_Q9NPH6 170 19457 8.91 0 Secreted NA PE1 9 +NX_Q9NPH9 171 19843 10 0 Secreted NA PE1 12 +NX_Q9NPI0 162 19262 9.67 4 Vacuole membrane;Cilium;Cytoskeleton Joubert syndrome 16 PE1 11 +NX_Q9NPI1 651 74139 6 0 Nucleoplasm;Cytosol;Nucleus NA PE1 16 +NX_Q9NPI5 230 26046 5.77 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 19 +NX_Q9NPI6 582 63309 5.84 0 Cytosol;Nucleus;P-body NA PE1 3 +NX_Q9NPI7 259 30980 9.35 0 Cytosol;Nucleolus NA PE1 2 +NX_Q9NPI8 374 42254 9.11 0 Nucleus Fanconi anemia complementation group F PE1 11 +NX_Q9NPI9 418 47949 7.98 2 Cytoplasmic vesicle;Membrane;Basolateral cell membrane NA PE1 17 +NX_Q9NPJ1 570 62342 6.67 0 Nucleus;Cytoplasm;Centrosome;Centrosome;Cytosol McKusick-Kaufman syndrome;Bardet-Biedl syndrome 6 PE1 20 +NX_Q9NPJ3 140 14960 9.23 0 Cell junction;Cytosol;Spindle;Nucleus;Mitochondrion NA PE1 6 +NX_Q9NPJ4 139 15591 10.4 0 Nucleoplasm;Nucleus;P-body;Golgi apparatus NA PE1 1 +NX_Q9NPJ6 270 29745 5.02 0 Nucleus;Nucleoplasm NA PE1 13 +NX_Q9NPJ8 142 16228 5.24 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA PE1 X +NX_Q9NPL8 285 32178 8.65 4 Mitochondrion;Nucleus;Mitochondrion membrane;Mitochondrion NA PE1 3 +NX_Q9NPP4 1024 116159 6.32 0 Cytoplasm;Cytosol Autoinflammation with infantile enterocolitis;Familial cold autoinflammatory syndrome 4 PE1 2 +NX_Q9NPQ8 531 59710 5.2 0 Cytoplasm;Cytosol;Cell membrane;Cytoplasm NA PE1 11 +NX_Q9NPR2 832 92193 6.51 1 Membrane NA PE1 15 +NX_Q9NPR9 543 60633 8.88 7 Membrane;Cytoplasmic vesicle;Golgi apparatus NA PE1 19 +NX_Q9NPU4 83 8830 3.8 1 Membrane NA PE3 14 +NX_Q9NPY3 652 68560 5.27 1 Cell membrane;Golgi apparatus;Cell membrane;Cytoplasmic vesicle;Membrane NA PE1 20 +NX_Q9NPZ5 323 36919 10.63 1 Golgi apparatus membrane NA PE1 6 +NX_Q9NQ03 307 32584 9.39 0 Nucleoplasm;Nucleus NA PE2 20 +NX_Q9NQ11 1180 128794 8.47 12 Membrane;Lysosome;Lysosome membrane Spastic paraplegia 78, autosomal recessive;Kufor-Rakeb syndrome PE1 1 +NX_Q9NQ25 335 37421 6.02 1 Endoplasmic reticulum;Membrane;Cytoplasmic vesicle NA PE1 1 +NX_Q9NQ29 371 43728 9.95 0 Mitochondrion;Nucleus NA PE1 16 +NX_Q9NQ30 184 20095 7.36 0 Secreted NA PE1 5 +NX_Q9NQ31 210 23114 8.31 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q9NQ32 467 51609 8.45 0 NA NA PE2 11 +NX_Q9NQ33 180 20797 8.71 0 Nucleus NA PE2 11 +NX_Q9NQ34 198 22531 8.35 1 Lysosome membrane;Early endosome membrane NA PE1 11 +NX_Q9NQ35 241 26975 8.82 0 Cytoplasm;Cytosol NA PE1 11 +NX_Q9NQ36 999 109966 6.23 0 Secreted;Cell surface NA PE1 11 +NX_Q9NQ38 1064 120714 8.45 0 Secreted;Cytoplasmic vesicle Netherton syndrome PE1 5 +NX_Q9NQ39 176 20120 10.13 0 NA NA PE5 20 +NX_Q9NQ40 469 50805 5.46 11 Apical cell membrane;Cell membrane Brown-Vialetto-Van Laere syndrome 1;Fazio-Londe disease PE1 20 +NX_Q9NQ48 299 34592 5.3 0 Cytosol;Cytoplasm Bardet-Biedl syndrome 17 PE1 3 +NX_Q9NQ50 206 24490 9.62 0 Nucleolus;Mitochondrion;Mitochondrion NA PE1 22 +NX_Q9NQ55 473 53194 10.13 0 Nucleolus NA PE1 19 +NX_Q9NQ60 294 32840 4.89 1 Acrosome membrane;Acrosome outer membrane;Acrosome inner membrane NA PE1 9 +NX_Q9NQ66 1216 138567 5.9 0 Nucleus membrane;Cytoplasm;Cell membrane Epileptic encephalopathy, early infantile, 12 PE1 20 +NX_Q9NQ69 397 43976 9 0 Nucleus;Nucleus NA PE1 1 +NX_Q9NQ75 786 87144 6.66 0 Cytoskeleton;Focal adhesion NA PE1 20 +NX_Q9NQ76 525 58419 8.62 0 Extracellular matrix NA PE1 4 +NX_Q9NQ79 661 71421 4.95 0 Extracellular matrix NA PE1 10 +NX_Q9NQ84 441 48193 8.72 7 Cytoplasmic vesicle membrane;Cell membrane;Nucleus;Cytosol;Microtubule organizing center NA PE1 17 +NX_Q9NQ86 728 83013 5.77 0 Acrosome;Cytoskeleton;Cytoplasm;Cytosol;Nucleus Anencephaly PE1 5 +NX_Q9NQ87 328 35087 10.69 0 Nucleus;Mitochondrion;Cytosol NA PE1 1 +NX_Q9NQ88 270 30063 7.6 0 Nucleus;Mitochondrion;Cytosol;Cytoplasm;Cytoplasm;Nucleus NA PE1 12 +NX_Q9NQ89 552 63801 5.94 0 Cytoplasm;Nucleus NA PE1 12 +NX_Q9NQ90 1003 113969 6.12 8 Nucleoplasm;Cell membrane;Cell membrane NA PE1 12 +NX_Q9NQ92 184 20066 4.06 0 Cytosol;Nucleus;Nucleus;Cell membrane NA PE1 17 +NX_Q9NQ94 594 65202 8.6 0 Nucleus;Cytoplasm;Endoplasmic reticulum;Nucleoplasm NA PE1 10 +NX_Q9NQA3 447 47990 5.48 0 Recycling endosome membrane;Early endosome membrane NA PE1 X +NX_Q9NQA5 729 82551 6.01 6 Apical cell membrane NA PE1 7 +NX_Q9NQB0 619 67919 8.73 0 PML body;Nucleus;Nucleoplasm Diabetes mellitus, non-insulin-dependent PE1 10 +NX_Q9NQC1 790 87466 5.15 0 Nucleoplasm NA PE1 5 +NX_Q9NQC3 1192 129931 4.43 2 Nucleus membrane;Endoplasmic reticulum;Cell membrane;Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 2 +NX_Q9NQC7 956 107316 5.42 0 Cytoplasm;Perinuclear region;Cytoskeleton;Cell membrane;Centrosome;Spindle;Cilium basal body;Microtubule organizing center;Nucleoplasm Brooke-Spiegler syndrome;Multiple familial trichoepithelioma 1;Cylindromatosis, familial PE1 16 +NX_Q9NQC8 304 34286 4.37 0 Cytoplasm;Cytoskeleton;Cilium;Cilium basal body NA PE1 11 +NX_Q9NQE7 514 55049 8.28 0 Cytoplasmic vesicle NA PE2 6 +NX_Q9NQE9 182 20361 6.12 0 Cytoplasm;Nucleolus;Cytosol;Mitochondrion;Nucleus NA PE1 6 +NX_Q9NQF3 203 22471 6.64 0 NA NA PE2 22 +NX_Q9NQG1 85 9467 9.21 1 Membrane;Mitochondrion;Nucleus NA PE1 20 +NX_Q9NQG5 326 36900 5.73 0 Centrosome;Cytosol;Nucleoplasm;Nucleus NA PE1 20 +NX_Q9NQG6 463 51293 7.55 1 Mitochondrion;Mitochondrion;Cytoskeleton;Mitochondrion outer membrane NA PE1 22 +NX_Q9NQG7 708 76919 5.26 0 Centrosome Hermansky-Pudlak syndrome 4 PE1 22 +NX_Q9NQH7 507 57034 6.37 0 Mitochondrion Nephronophthisis-like nephropathy 1 PE1 22 +NX_Q9NQI0 724 79308 5.62 0 Cytoplasm;Perinuclear region NA PE1 5 +NX_Q9NQL2 400 45588 4.76 0 Centrosome;Lysosome;Cytoplasm;Nucleus;Nucleoplasm NA PE1 6 +NX_Q9NQL9 472 51199 7 0 Nucleus NA PE1 9 +NX_Q9NQM4 214 24069 3.99 0 Cytoplasm Ciliary dyskinesia, primary, 36, X-linked PE1 X +NX_Q9NQN1 319 35172 8.37 7 Cell membrane NA PE2 9 +NX_Q9NQP4 134 15314 4.42 0 Nucleus;Cytoplasm;Mitochondrion NA PE1 20 +NX_Q9NQQ7 365 40432 8.31 8 Nucleoplasm;Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment membrane;cis-Golgi network membrane;Membrane NA PE1 20 +NX_Q9NQR1 393 42890 9.69 0 Nucleus;Chromosome;Nucleus NA PE1 12 +NX_Q9NQR4 276 30608 6.83 0 Cytoplasm;Cytosol;Centrosome NA PE1 3 +NX_Q9NQR7 707 79739 10.74 0 NA NA PE1 14 +NX_Q9NQR9 355 40580 8.64 9 Endoplasmic reticulum membrane NA PE1 2 +NX_Q9NQS1 362 38506 4.9 0 Endomembrane system;Centrosome;Cytoskeleton;Cell membrane NA PE1 15 +NX_Q9NQS3 549 61002 5.79 1 Microtubule organizing center;Cell membrane;Postsynaptic cell membrane NA PE1 3 +NX_Q9NQS5 396 43705 9.63 7 Cell membrane NA PE1 12 +NX_Q9NQS7 918 105429 9.46 0 Nucleus;Nucleus;Centromere;Spindle;Midbody;Kinetochore;Midbody;Nucleus NA PE1 11 +NX_Q9NQT4 235 25249 7.54 0 Nucleolus;Cytoplasm;Nucleolus;Nucleus;Nucleus NA PE1 19 +NX_Q9NQT5 275 29572 8.39 0 Nucleus;Cytoplasm;Nucleoplasm;Nucleolus Pontocerebellar hypoplasia 1B PE1 9 +NX_Q9NQT6 498 56624 7.83 0 Cytoskeleton NA PE1 7 +NX_Q9NQT8 1826 202789 5.64 0 Cytoskeleton;Axon NA PE1 8 +NX_Q9NQU5 681 74869 9.57 0 Cytoplasm;Nucleus;Nucleus;Cell junction;Nucleolus NA PE1 15 +NX_Q9NQV5 511 57863 5.85 0 Cytoplasm;Nucleus NA PE1 11 +NX_Q9NQV6 1147 130136 6.27 0 Nucleolus;Nucleus;Nucleoplasm;Cytoplasmic vesicle NA PE1 11 +NX_Q9NQV7 894 103376 9.36 0 Nucleus;Chromosome NA PE1 5 +NX_Q9NQV8 689 71663 8.05 0 Nucleus;Nucleus Epilepsy, progressive myoclonic 10 PE1 4 +NX_Q9NQW1 1179 128697 8.62 0 Nucleus;Nucleolus;Cytosol;Cytoplasm;COPII-coated vesicle membrane;Endoplasmic reticulum membrane;Cytoplasmic vesicle NA PE1 10 +NX_Q9NQW5 492 55777 7.99 0 Nucleus speckle;Nucleus;Chromosome NA PE1 16 +NX_Q9NQW6 1124 124199 8.38 0 Cytoskeleton;Nucleus;Nucleoplasm;Nucleus;Cytoskeleton;Bleb;Cell cortex Focal segmental glomerulosclerosis 8 PE1 7 +NX_Q9NQW7 623 69918 5.42 0 Cytosol;Cytoplasm NA PE1 10 +NX_Q9NQW8 809 92167 8.06 6 Membrane Achromatopsia 3;Stargardt disease 1 PE1 8 +NX_Q9NQX0 595 64452 7.93 0 Nucleus;Nucleoplasm Patent ductus arteriosus 3 PE1 5 +NX_Q9NQX1 630 73090 9.08 0 Nucleus;Nucleus;Nucleolus;Nucleus Brittle cornea syndrome 2 PE1 4 +NX_Q9NQX3 736 79748 5.25 0 Cytosol;Synapse;Postsynaptic cell membrane;Cytoskeleton;Cell membrane;Dendrite Molybdenum cofactor deficiency, complementation group C PE1 14 +NX_Q9NQX4 1742 202810 7.69 0 Cytosol;Nucleus NA PE1 15 +NX_Q9NQX5 325 34516 6.55 1 Nucleus;Cytosol;Membrane NA PE1 9 +NX_Q9NQX6 463 53739 9.16 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q9NQX7 267 30224 8.16 1 Cell membrane;Golgi apparatus;Lysosome membrane;Cell membrane NA PE1 2 +NX_Q9NQY0 253 29665 6.94 0 Cytoskeleton NA PE1 8 +NX_Q9NQZ2 479 54558 5.5 0 Nucleolus;Nucleus;Nucleus NA PE1 4 +NX_Q9NQZ3 744 82764 9.36 0 Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 PE1 Y +NX_Q9NQZ5 370 43113 9.03 0 Mitochondrion;Mitochondrion NA PE1 2 +NX_Q9NQZ6 224 26244 6.68 0 Cytoplasmic vesicle;Cytoskeleton;Cytoplasm;Nucleus;Postsynaptic cell membrane Wieacker-Wolf syndrome PE1 X +NX_Q9NQZ7 604 68960 7.29 2 Nucleoplasm;Cytoplasmic vesicle membrane NA PE1 10 +NX_Q9NQZ8 489 54498 9 0 Nucleolus;Nucleus;Nucleus NA PE1 19 +NX_Q9NR00 106 12337 10.14 0 Nucleolus;Nucleus speckle;Nucleus;Cytoplasm;Cytosol;Cell membrane;Nucleoplasm NA PE1 8 +NX_Q9NR09 4857 530255 5.67 0 Spindle pole;Golgi apparatus;Endosome;Midbody ring;Centrosome;Cytoplasmic vesicle;trans-Golgi network membrane NA PE1 2 +NX_Q9NR11 478 54814 9.13 0 Nucleus;Cytoskeleton;Cytoplasmic vesicle NA PE1 19 +NX_Q9NR12 457 49845 8.76 0 Focal adhesion;Cytoplasm;Cytoskeleton;Cytoskeleton NA PE1 5 +NX_Q9NR16 1453 159239 5.44 1 Nucleoplasm;Cytosol;Centrosome;Secreted;Cell membrane NA PE1 12 +NX_Q9NR19 701 78580 6.02 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA PE1 20 +NX_Q9NR20 520 59608 9.03 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 12 +NX_Q9NR21 331 38739 7.62 0 Nuclear pore complex NA PE1 12 +NX_Q9NR22 394 45291 6.47 0 Cell membrane NA PE1 12 +NX_Q9NR23 364 41387 8.2 0 Secreted;Cytoplasm Klippel-Feil syndrome 3, autosomal dominant;Microphthalmia, isolated, with coloboma, 6;Microphthalmia, isolated, 7 PE1 12 +NX_Q9NR28 239 27131 5.68 0 Mitochondrion;Mitochondrion Deafness, autosomal dominant, 64 PE1 12 +NX_Q9NR30 783 87344 9.32 0 Nucleus;Nucleolus;Nucleolus;Nucleolus;Nucleoplasm;Nucleus NA PE1 10 +NX_Q9NR31 198 22367 6.22 0 Endoplasmic reticulum;Golgi apparatus NA PE1 10 +NX_Q9NR33 117 12209 4.87 0 Nucleus;Nucleus;Cytosol NA PE1 2 +NX_Q9NR34 630 70911 7.01 1 Cytoplasmic vesicle;Nucleus;Golgi apparatus membrane NA PE1 1 +NX_Q9NR45 359 40308 6.29 0 Nucleoplasm Spondyloepimetaphyseal dysplasia, Genevieve type PE1 9 +NX_Q9NR46 395 43974 5.72 0 Nucleoplasm;Cytosol;Cytoplasm NA PE1 9 +NX_Q9NR48 2969 332790 9.46 0 Nucleoplasm;Nucleus;Chromosome;Golgi apparatus;Tight junction NA PE1 1 +NX_Q9NR50 452 50240 6.08 0 Cytoplasm;Cytosol;Cytoplasmic vesicle Leukodystrophy with vanishing white matter PE1 1 +NX_Q9NR55 127 14468 9.12 0 Nucleus NA PE1 1 +NX_Q9NR56 388 41817 9.16 0 Cytosol;Cytoplasmic granule;Nucleus;Cytoplasm;Nucleoplasm Dystrophia myotonica 1;Corneal dystrophy, Fuchs endothelial, 3 PE1 3 +NX_Q9NR61 685 74605 6.51 1 Cell membrane Adams-Oliver syndrome 6 PE1 15 +NX_Q9NR63 512 57513 8.68 0 Cytosol;Endoplasmic reticulum membrane;Microsome membrane Radiohumeral fusions with other skeletal and craniofacial anomalies PE1 2 +NX_Q9NR64 748 82680 5.95 0 Cytoskeleton NA PE2 13 +NX_Q9NR71 780 85516 6.77 1 Cell membrane NA PE1 10 +NX_Q9NR77 195 22253 10.58 4 Peroxisome membrane NA PE1 12 +NX_Q9NR80 690 79067 6.55 0 Cytoplasm;Ruffle membrane NA PE1 2 +NX_Q9NR81 526 59783 6.03 0 Nucleus;Cytoplasm;Cytoplasm;Cytosol NA PE1 3 +NX_Q9NR82 932 102179 9.55 6 Cytoplasmic vesicle;Cell membrane Mental retardation, autosomal dominant 46 PE1 6 +NX_Q9NR83 387 41267 8.57 0 Nucleus speckle;Cytoplasm;Nucleus NA PE1 20 +NX_Q9NR90 486 54989 8.9 0 Nucleus;Cytoplasm Spermatogenic failure Y-linked 2 PE1 Y +NX_Q9NR96 1032 115860 8.55 1 Endoplasmic reticulum membrane;Endosome;Phagosome;Lysosome NA PE1 3 +NX_Q9NR97 1041 119828 6.2 1 Membrane NA PE1 X +NX_Q9NR99 2828 312150 8.57 0 Mitochondrion;Secreted Lung cancer PE1 X +NX_Q9NRA0 654 69217 6.47 0 Cytoplasmic vesicle;Lysosome membrane;Cytoplasm;Membrane NA PE1 19 +NX_Q9NRA1 345 39029 5.77 0 Cytosol;Cytosol;Secreted;Nucleus;Cell membrane;Cell membrane;Cytoplasmic granule NA PE1 4 +NX_Q9NRA2 495 54640 8.51 12 Cytosol;Lysosome membrane;Synaptic vesicle membrane;Cell membrane;Cell membrane Infantile sialic acid storage disorder;Salla disease PE1 6 +NX_Q9NRA8 985 108201 8.45 0 Cytoplasm;Cytoplasmic vesicle;Nucleus;PML body;Nucleus speckle NA PE1 22 +NX_Q9NRB3 414 48414 9.37 1 Golgi apparatus;Golgi apparatus membrane NA PE1 7 +NX_Q9NRC1 585 67166 6.82 3 Cytosol;Membrane;Nucleoplasm NA PE1 7 +NX_Q9NRC6 3674 416750 6.21 0 Cytoskeleton NA PE1 15 +NX_Q9NRC8 400 44898 9.8 0 Cytoplasmic vesicle;Nucleolus;Cytoplasm;Nucleolus NA PE1 17 +NX_Q9NRC9 128 14332 4.87 0 Secreted NA PE1 20 +NX_Q9NRD0 319 37068 7.62 0 Nucleoplasm;Cytosol NA PE2 4 +NX_Q9NRD1 293 33933 5.73 0 Cytoplasm NA PE1 1 +NX_Q9NRD5 415 46600 5.17 0 Mitochondrion;Cytoskeleton;Synaptosome;Postsynaptic density;Membrane;Membrane;Perinuclear region;Cytosol NA PE1 22 +NX_Q9NRD8 1548 175364 8.02 7 Apical cell membrane;Cell junction Thyroid dyshormonogenesis 6 PE1 15 +NX_Q9NRD9 1551 177235 8.12 7 Apical cell membrane NA PE1 15 +NX_Q9NRE1 261 29708 5.96 0 Extracellular matrix NA PE2 11 +NX_Q9NRE2 1034 115005 8 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 20 +NX_Q9NRF2 756 79366 5.26 0 Membrane;Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 16 +NX_Q9NRF8 586 65678 6.46 0 Nucleoplasm;Cytosol NA PE1 X +NX_Q9NRF9 147 16860 4.68 0 Nucleus;Nucleolus;Nucleus NA PE1 9 +NX_Q9NRG0 131 14711 4.99 0 Nucleus;Nucleus NA PE1 8 +NX_Q9NRG1 225 25674 5.76 0 Golgi apparatus;Cytosol;Nucleoplasm NA PE1 10 +NX_Q9NRG4 433 49688 6.27 0 Cytosol;Nucleus;Cytosol;Cytoskeleton;Mitochondrion NA PE1 1 +NX_Q9NRG7 319 34748 9.79 0 Cytosol;Nucleoplasm NA PE1 14 +NX_Q9NRG9 546 59574 7.26 0 Cytosol;Nucleus membrane;Nuclear pore complex;Centrosome Achalasia-addisonianism-alacrima syndrome PE1 12 +NX_Q9NRH1 226 25299 5.35 0 Cytosol NA PE1 7 +NX_Q9NRH2 765 84276 6.62 0 Cytoplasmic vesicle;Nucleus;Cell junction;Cell membrane;Nucleus NA PE1 3 +NX_Q9NRH3 451 51092 5.5 0 Centrosome;Microtubule organizing center NA PE1 17 +NX_Q9NRI5 854 93611 5.96 0 Cytoplasm;Postsynaptic density;Cytoskeleton;Centrosome Schizophrenia 9 PE1 1 +NX_Q9NRI6 33 3432 3.92 0 Secreted NA PE5 17 +NX_Q9NRI7 21 2179 7.74 0 NA NA PE5 17 +NX_Q9NRJ1 99 11219 8.59 0 Cytoplasm;Microsome membrane;Endoplasmic reticulum membrane NA PE1 8 +NX_Q9NRJ2 163 17657 10.93 0 NA NA PE5 9 +NX_Q9NRJ3 127 14280 10.23 0 Secreted NA PE1 5 +NX_Q9NRJ4 1543 169000 7.49 0 Cytoplasm NA PE1 6 +NX_Q9NRJ5 636 71681 6.02 0 Nucleus NA PE1 7 +NX_Q9NRJ7 776 84983 5 1 Cell membrane;Cytoplasmic vesicle;Membrane NA PE1 5 +NX_Q9NRK6 738 79148 9.87 5 Mitochondrion inner membrane NA PE1 1 +NX_Q9NRL2 1556 178702 6.2 0 Nucleus;Endoplasmic reticulum NA PE1 14 +NX_Q9NRL3 753 80596 5.21 0 Dendritic spine;Cytosol;Cytoplasm;Membrane NA PE1 19 +NX_Q9NRM0 540 58702 9.09 12 Basolateral cell membrane;Apical cell membrane Hypouricemia renal 2 PE1 4 +NX_Q9NRM1 1142 128785 6.36 0 Extracellular matrix Amelogenesis imperfecta 1C;Amelogenesis imperfecta 1B PE1 4 +NX_Q9NRM2 450 52788 5.19 0 Nucleoplasm;Nucleus;Cell membrane NA PE1 7 +NX_Q9NRM6 502 55885 8.44 1 Cell membrane;Secreted NA PE1 3 +NX_Q9NRM7 1088 120136 8.44 0 Spindle pole;Cytosol;Nucleus;Microtubule organizing center;Centrosome;Cytoplasm NA PE1 13 +NX_Q9NRN5 406 46010 6.17 0 Secreted NA PE1 1 +NX_Q9NRN7 309 35776 6.35 0 Mitochondrion;Cytoplasm NA PE1 11 +NX_Q9NRN9 209 23719 6.23 0 Cytosol;Nucleolus NA PE1 2 +NX_Q9NRP0 149 16829 9.23 3 Nucleoplasm;Membrane;Endoplasmic reticulum NA PE1 4 +NX_Q9NRP2 79 9460 7.73 0 Mitochondrion;Mitochondrion NA PE1 16 +NX_Q9NRP4 125 14652 9.13 0 Mitochondrion matrix;Cytoskeleton;Mitochondrion NA PE1 7 +NX_Q9NRP7 1315 143995 5.57 0 Cytosol;Nucleus;Cytoplasm NA PE1 2 +NX_Q9NRQ2 329 37005 5.53 1 Nucleus;Nucleoplasm;Membrane NA PE1 3 +NX_Q9NRQ5 59 6738 10.28 1 Membrane NA PE1 11 +NX_Q9NRR1 136 15577 8.81 0 Secreted NA PE1 4 +NX_Q9NRR2 321 33815 6.69 1 Membrane NA PE2 16 +NX_Q9NRR3 84 9223 8.61 0 Cytoskeleton;Cell membrane;Phagocytic cup NA PE1 5 +NX_Q9NRR4 1374 159316 8 0 Nucleoplasm;Cell membrane;Nucleus;Nucleolus NA PE1 5 +NX_Q9NRR5 601 63853 5.14 0 Nucleus;Autophagosome;Perinuclear region;Endoplasmic reticulum;Cytoplasm;Nucleus NA PE1 1 +NX_Q9NRR6 644 70205 9.16 0 Cilium axoneme;Golgi stack membrane;Cell membrane;Ruffle;Cytoplasm Joubert syndrome 1;Mental retardation, truncal obesity, retinal dystrophy, and micropenis PE1 9 +NX_Q9NRR8 79 8925 10.03 0 Cell membrane;Cytoskeleton;Cell membrane NA PE1 1 +NX_Q9NRS4 437 48246 5.2 1 Membrane;Nucleoplasm;Cytosol NA PE1 11 +NX_Q9NRS6 342 38291 5.09 0 Cytoplasm;Cytosol;Membrane;Cytoplasmic vesicle membrane;Nucleolus NA PE1 11 +NX_Q9NRU3 951 104351 5.91 4 Cytosol;Cell membrane;Cell membrane NA PE1 10 +NX_Q9NRV9 189 21097 5.71 0 Nucleus;Cytoplasm;Cytoplasmic vesicle NA PE1 12 +NX_Q9NRW1 208 23462 5.41 0 Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment;Cytoplasmic vesicle NA PE1 3 +NX_Q9NRW3 190 22826 7.52 0 Cytoskeleton;Cytoplasm;Nucleus NA PE1 22 +NX_Q9NRW4 184 20910 8.28 0 Cytoplasmic vesicle;Nucleus;Cytoplasm;Nucleoplasm NA PE1 6 +NX_Q9NRW7 570 65077 8.41 0 Golgi apparatus membrane;Cytoskeleton;Endosome membrane Neutropenia, severe congenital 5, autosomal recessive PE1 1 +NX_Q9NRX1 252 27924 9.75 0 Nucleolus;Nucleolus;Nucleus NA PE1 2 +NX_Q9NRX2 175 20050 10.12 0 Mitochondrion NA PE1 11 +NX_Q9NRX3 87 9966 9.94 0 NA NA PE1 12 +NX_Q9NRX4 125 13833 5.65 0 Nucleus;Cytoplasm;Cytosol;Cytoplasm;Nucleus NA PE1 9 +NX_Q9NRX5 453 50495 5.59 10 Cytosol;Endoplasmic reticulum membrane NA PE1 6 +NX_Q9NRX6 74 8294 9.67 1 Golgi apparatus membrane NA PE1 1 +NX_Q9NRY2 104 11425 9.22 0 Nucleus;Nucleoplasm NA PE1 9 +NX_Q9NRY4 1499 170514 6.2 0 Nucleus;Nucleus;Cell membrane;Cilium basal body;Cytoplasm NA PE1 19 +NX_Q9NRY5 505 55468 4.85 0 Cytoplasmic vesicle NA PE1 5 +NX_Q9NRY6 295 31648 6.22 1 Mitochondrion;Mitochondrion membrane NA PE1 17 +NX_Q9NRY7 297 33504 6.69 1 Membrane;Nucleus NA PE1 3 +NX_Q9NRZ5 378 44021 8.95 4 Golgi apparatus;Cytoplasmic vesicle;Membrane;Nucleolus NA PE1 6 +NX_Q9NRZ7 376 43381 8.96 2 Nucleus envelope;Endoplasmic reticulum membrane NA PE1 21 +NX_Q9NRZ9 838 97074 8.07 0 Golgi apparatus;Nucleus;Cytoplasmic vesicle;Nucleus Immunodeficiency-centromeric instability-facial anomalies syndrome 4 PE1 10 +NX_Q9NS00 363 42203 6.17 1 Nucleus;Membrane;Cytosol NA PE1 7 +NX_Q9NS15 1303 139359 5.71 0 Nucleoplasm;Secreted Dental anomalies and short stature PE1 11 +NX_Q9NS18 164 18052 9.25 0 Mitochondrion;Nucleus;Nucleoplasm NA PE1 1 +NX_Q9NS23 344 39219 9.2 0 Cytoskeleton;Centrosome;Spindle;Spindle pole;Nucleus NA PE1 3 +NX_Q9NS25 103 11840 5.92 0 Cytoplasm;Nucleus NA PE1 X +NX_Q9NS26 97 11038 5.05 0 Cytoplasm;Nucleus NA PE1 X +NX_Q9NS28 235 27582 7.73 0 Cytoplasm;Golgi apparatus NA PE1 1 +NX_Q9NS37 354 37134 5.12 0 Nucleus;Mitochondrion;Nucleus NA PE1 11 +NX_Q9NS39 739 80621 10.19 0 Nucleus NA PE1 10 +NX_Q9NS40 1196 135000 7.57 6 Membrane NA PE1 2 +NX_Q9NS56 1045 119198 9.56 0 Nucleoplasm;Nucleus;PML body Retinitis pigmentosa 31 PE1 9 +NX_Q9NS61 270 30907 4.97 0 Nucleus;Cytoplasm;Cell membrane NA PE1 10 +NX_Q9NS62 852 94584 8.33 1 Membrane;Cytosol;Secreted NA PE1 13 +NX_Q9NS64 109 11774 4.79 1 Cytoplasm;Membrane NA PE1 2 +NX_Q9NS66 373 41481 9.36 7 Cytosol;Cell membrane;Cell membrane NA PE2 X +NX_Q9NS67 375 39818 9.3 7 Cell membrane;Cytosol;Nucleoplasm;Cytoskeleton;Cell membrane NA PE2 3 +NX_Q9NS68 423 46015 5.28 1 Mitochondrion;Membrane;Nucleoplasm NA PE1 13 +NX_Q9NS69 142 15522 4.27 1 Mitochondrion outer membrane;Mitochondrion NA PE1 22 +NX_Q9NS71 199 21999 5.9 0 Secreted NA PE1 2 +NX_Q9NS73 344 39281 6.78 0 Nucleus;Nucleus;Nucleolus;Cytosol;Cytoplasm NA PE1 14 +NX_Q9NS75 346 39635 9.63 7 Cell membrane NA PE1 13 +NX_Q9NS82 523 56798 8.51 9 Nucleus;Membrane;Nucleolus NA PE1 19 +NX_Q9NS84 486 54266 9.72 1 Golgi apparatus membrane NA PE1 X +NX_Q9NS85 328 37563 8.22 0 Cytoplasmic vesicle NA PE1 17 +NX_Q9NS86 450 50854 7.18 0 Cell membrane;Nucleus;Cytosol;Nucleus;Cytoplasm NA PE1 7 +NX_Q9NS87 1388 160160 5.75 0 Cytoplasm;Spindle NA PE1 3 +NX_Q9NS91 495 56223 7.51 0 Nucleus;Nucleus;Centrosome;Nucleoplasm NA PE1 3 +NX_Q9NS93 570 64166 6.56 7 Cytosol;Cell membrane;Nucleus NA PE1 12 +NX_Q9NS98 782 86701 7.97 0 Secreted NA PE1 3 +NX_Q9NSA0 550 59972 8.96 12 Cell membrane NA PE1 11 +NX_Q9NSA1 209 22300 5.01 0 Secreted NA PE1 19 +NX_Q9NSA2 647 71330 8.79 6 Nucleus;Membrane;Dendrite NA PE1 X +NX_Q9NSA3 81 9170 5.33 0 Mitochondrion;Cell membrane;Cell junction;Cytoplasm;Nucleus NA PE1 1 +NX_Q9NSB2 600 64842 7.74 0 NA NA PE1 12 +NX_Q9NSB4 513 56653 6.4 0 NA NA PE1 12 +NX_Q9NSB8 354 40627 6.03 0 Cytosol;Cytoplasm;Postsynaptic density;Synapse;Stereocilium Deafness, autosomal dominant, 68 PE1 15 +NX_Q9NSC2 1324 140405 6.57 0 Nucleus;Cytosol;Nucleus Townes-Brocks syndrome 1 PE1 16 +NX_Q9NSC5 361 39836 5.39 0 Cytoplasm;Cytosol;Cell membrane;Cytosol;Postsynaptic density;Synapse NA PE1 19 +NX_Q9NSC7 600 68564 9.93 1 Golgi apparatus membrane NA PE1 17 +NX_Q9NSD4 429 48443 9.33 0 Nucleus;Nucleolus NA PE1 X +NX_Q9NSD5 602 68009 7.36 12 Cell membrane;Mitochondrion NA PE1 12 +NX_Q9NSD7 469 51124 9.07 7 Cell membrane NA PE1 5 +NX_Q9NSD9 589 66116 6.39 0 Cytoplasm;Nucleus;Cytosol NA PE1 2 +NX_Q9NSE2 258 28663 6.52 0 Cytoskeleton;Cytoskeleton NA PE1 3 +NX_Q9NSE4 1012 113792 6.78 0 Mitochondrion matrix;Mitochondrion Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia PE1 1 +NX_Q9NSE7 274 30831 9.59 2 Membrane NA PE2 21 +NX_Q9NSG2 853 96554 5.64 0 Mitochondrion NA PE1 1 +NX_Q9NSI2 230 25456 11.07 0 Golgi apparatus;Cytoplasmic vesicle NA PE1 21 +NX_Q9NSI5 407 44593 8.14 1 Apical cell membrane;Tight junction NA PE2 21 +NX_Q9NSI6 2320 262936 8.73 0 Nucleus;Nucleolus;Cytosol;Cytoplasm;Nucleus NA PE1 21 +NX_Q9NSI8 373 41708 5.28 0 Cytoplasm;Ruffle;Nucleus NA PE1 21 +NX_Q9NSJ1 428 49689 8.9 0 Nucleus NA PE5 21 +NX_Q9NSK0 619 68640 5.82 0 Cytosol;Mitochondrion;Cytoskeleton NA PE1 6 +NX_Q9NSK7 152 16286 6.83 1 Mitochondrion;Mitochondrion membrane;Endoplasmic reticulum;Cytosol Neurodegeneration with brain iron accumulation 4;Spastic paraplegia 43, autosomal recessive PE1 19 +NX_Q9NSN8 517 57969 6.24 0 Cytoskeleton;Cytoskeleton;Nucleus NA PE1 8 +NX_Q9NSP4 180 19737 6.7 0 Kinetochore;Cytosol;Cytoplasm;Nucleus NA PE1 22 +NX_Q9NSQ0 103 12575 9.73 0 NA NA PE5 22 +NX_Q9NST1 481 52865 6.27 1 Nucleolus;Mitochondrion;Cytosol;Membrane Non-alcoholic fatty liver disease 1 PE1 22 +NX_Q9NSU2 369 38923 8.78 0 Nucleus;Cytosol;Endoplasmic reticulum membrane Vasculopathy, retinal, with cerebral leukodystrophy;Chilblain lupus 1;Aicardi-Goutieres syndrome 1;Systemic lupus erythematosus PE1 3 +NX_Q9NSV4 1193 136926 6.64 0 Cytoskeleton;Cell membrane;Cytosol Auditory neuropathy, autosomal dominant, 1 PE1 13 +NX_Q9NSY0 501 57803 6.05 0 Cytoplasm;Cytosol NA PE1 8 +NX_Q9NSY1 1161 129172 6.05 0 Nucleus speckle;Nucleus NA PE1 4 +NX_Q9NSY2 213 23794 6.22 0 NA NA PE1 15 +NX_Q9NT22 766 82647 7.84 0 Extracellular matrix NA PE1 20 +NX_Q9NT62 314 35864 4.66 0 Cytoplasm;Cytoplasm;Cell membrane;Cytosol NA PE1 3 +NX_Q9NT68 2774 307787 6.23 1 Cell membrane;Nucleolus;PML body;Synaptosome;Postsynaptic cell membrane;Growth cone;Filopodium;Dendritic spine;Synapse;Golgi apparatus;Endoplasmic reticulum;Cell membrane NA PE1 5 +NX_Q9NT99 713 76434 6.8 1 Membrane;Presynaptic cell membrane NA PE1 19 +NX_Q9NTG1 2253 255449 9.26 11 Membrane NA PE2 22 +NX_Q9NTG7 399 43573 8.98 0 Mitochondrion matrix NA PE1 11 +NX_Q9NTI2 1148 129242 7.99 10 Membrane;Cell membrane;Golgi apparatus;Endosome;Photoreceptor outer segment;Nucleoplasm;Cell membrane Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 PE1 13 +NX_Q9NTI5 1447 164667 8.67 0 Nucleoplasm;Nucleus NA PE1 13 +NX_Q9NTI7 297 32759 8.92 0 Nucleus;Nucleus NA PE1 1 +NX_Q9NTJ3 1288 147182 6.37 0 Nucleus speckle;Cytosol;Nucleus;Cytoplasm;Chromosome NA PE1 3 +NX_Q9NTJ4 1040 115835 6.1 0 Nucleoplasm;Cytoplasm NA PE1 15 +NX_Q9NTJ5 587 66967 6.66 3 Golgi apparatus;Golgi apparatus;Nucleoplasm;Endoplasmic reticulum membrane NA PE1 3 +NX_Q9NTK1 212 23406 10.68 0 Mitochondrion;Cytoplasm;Nucleus;Cytoplasmic vesicle NA PE1 10 +NX_Q9NTK5 396 44744 7.64 0 Cytoplasm;Cytoplasm;Cytosol;Nucleus;Nucleolus NA PE1 2 +NX_Q9NTM9 273 29341 8.47 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA PE1 10 +NX_Q9NTN3 355 39240 9.06 8 Cytoplasm;Endoplasmic reticulum membrane Schneckenbecken dysplasia PE1 1 +NX_Q9NTN9 838 91497 8.1 1 Cell membrane NA PE1 10 +NX_Q9NTQ9 266 30419 8.4 4 Cell membrane;Cell junction;Gap junction Erythrokeratodermia variabilis et progressiva 2 PE1 1 +NX_Q9NTU4 200 22839 5.8 0 Cytoplasm;Nucleoplasm;Flagellum membrane NA PE1 11 +NX_Q9NTU7 201 21808 8.85 0 Secreted;Synapse NA PE1 20 +NX_Q9NTW7 645 72217 8.8 0 Nucleus NA PE1 20 +NX_Q9NTX5 307 33698 8.32 0 Cytosol NA PE1 6 +NX_Q9NTX7 359 38950 5.17 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol;Cell membrane;Cytosol NA PE1 6 +NX_Q9NTX9 383 42052 9.76 0 Nucleoplasm NA PE1 20 +NX_Q9NTZ6 932 97395 8.74 0 Nucleus;Nucleoplasm Schizophrenia 19 PE1 20 +NX_Q9NU02 776 86664 8.51 0 Cytosol;Cell membrane;Nucleolus NA PE1 20 +NX_Q9NU19 505 59081 6.94 0 Cytosol;Nucleoplasm NA PE1 6 +NX_Q9NU22 5596 632820 5.46 0 Nucleolus;Nucleus;Cytosol;Nucleolus;Cytoskeleton;Nucleoplasm;Cytoplasm NA PE1 6 +NX_Q9NU23 88 10449 10.46 0 Cytoplasm;Cytosol NA PE1 6 +NX_Q9NU39 408 43610 9.36 0 Nucleus NA PE1 2 +NX_Q9NU53 330 36840 4.81 1 Nucleolus;Cell membrane;Membrane NA PE1 6 +NX_Q9NU63 452 51919 9.34 0 Nucleus Transient neonatal diabetes mellitus 1 PE1 6 +NX_Q9NUA8 1239 138118 6.11 0 Nucleus;Nucleus NA PE1 1 +NX_Q9NUB1 689 74857 6.66 0 Mitochondrion matrix NA PE1 20 +NX_Q9NUB4 165 17394 7.8 1 Membrane NA PE2 20 +NX_Q9NUC0 356 39348 6.27 0 Nucleoplasm NA PE1 1 +NX_Q9NUD5 404 43618 8.86 0 Cytoplasmic vesicle NA PE1 20 +NX_Q9NUD7 363 42859 8.81 0 Nucleus;Golgi apparatus NA PE1 20 +NX_Q9NUD9 493 55713 8.2 10 Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum Hyperphosphatasia with mental retardation syndrome 1 PE1 1 +NX_Q9NUE0 388 42031 9.33 4 Membrane;Cytoskeleton NA PE1 1 +NX_Q9NUG4 571 62179 5.62 0 Nucleoplasm NA PE1 20 +NX_Q9NUG6 133 15511 5.81 0 Cytoskeleton;Cytoplasm NA PE1 20 +NX_Q9NUH8 114 12078 9.57 4 Membrane NA PE2 6 +NX_Q9NUI1 292 30778 9.38 0 Peroxisome;Peroxisome NA PE1 16 +NX_Q9NUJ1 306 33933 8.81 0 Mitochondrion;Mitochondrion NA PE1 3 +NX_Q9NUJ3 509 57035 5.41 0 Cytosol NA PE1 11 +NX_Q9NUJ7 323 36668 6.11 0 Cytoplasm;Cytosol NA PE1 X +NX_Q9NUK0 354 38532 9.13 0 Nucleus;Cytoplasmic vesicle;Golgi apparatus;Cytoplasm NA PE1 X +NX_Q9NUL3 570 62641 9.62 0 Nucleus;Nucleolus;Cytoplasm;Cytosol;Nucleoplasm;Endoplasmic reticulum NA PE1 8 +NX_Q9NUL5 291 33110 6.86 0 Nucleus;Cytoplasm NA PE1 19 +NX_Q9NUL7 540 59581 10.43 0 Mitochondrion;Cytosol;Nucleolus;Nucleus;Mitochondrion;Mitochondrion nucleoid;Mitochondrion matrix NA PE1 16 +NX_Q9NUM3 307 32251 6.21 8 Endoplasmic reticulum;Membrane NA PE1 14 +NX_Q9NUM4 274 31127 6.52 1 Endosome;Late endosome membrane;Lysosome membrane;Membrane;Lysosome Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;Ubiquitin-positive frontotemporal dementia PE1 7 +NX_Q9NUN5 540 61389 7.89 9 Lysosome membrane Methylmalonic aciduria and homocystinuria type cblF PE1 6 +NX_Q9NUN7 267 31552 8.87 7 Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE1 11 +NX_Q9NUP1 217 23351 4.9 0 Cytoplasm;Cytoplasmic vesicle;Cytosol NA PE1 4 +NX_Q9NUP7 481 54247 8.36 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA PE1 1 +NX_Q9NUP9 197 21834 8.52 0 Cell membrane;Basolateral cell membrane;Cell junction;Postsynaptic density;Tight junction;Synaptosome NA PE1 11 +NX_Q9NUQ2 364 42072 9.18 3 Mitochondrion;Endoplasmic reticulum membrane;Nucleus envelope;Mitochondrion NA PE1 8 +NX_Q9NUQ3 528 60586 7.23 0 Cytosol;Cytosol;Nucleus membrane NA PE1 X +NX_Q9NUQ6 558 61729 9.67 0 Cytoskeleton;Nucleus;Nucleolus;Cytosol;Nucleolus;Nucleolus;Cytoplasm;Cytoplasm NA PE1 2 +NX_Q9NUQ7 469 53261 6.52 0 Nucleus;Cytoplasm;Endoplasmic reticulum;Nucleus;Cytosol Beukes familial hip dysplasia PE1 4 +NX_Q9NUQ8 709 79745 5.95 0 Nucleolus;Cytosol NA PE1 3 +NX_Q9NUQ9 324 36748 5.76 0 Membrane;Nucleus;Cytosol NA PE1 8 +NX_Q9NUR3 256 27551 6.97 2 Nucleoplasm;Membrane;Golgi apparatus NA PE2 20 +NX_Q9NUS5 200 22522 6.38 0 Nucleoplasm;Cytosol;Lysosome membrane;Cytosol;Late endosome membrane NA PE1 20 +NX_Q9NUT2 735 79989 9.21 5 Mitochondrion;Nucleus;Mitochondrion inner membrane NA PE1 7 +NX_Q9NUU6 356 42196 9.36 0 Cytosol;Nucleolus NA PE1 5 +NX_Q9NUU7 478 53975 6.2 0 Cytoplasm;Nuclear pore complex;Nucleus membrane NA PE1 16 +NX_Q9NUV7 552 62049 8.9 1 Cytoskeleton;Endoplasmic reticulum membrane NA PE1 20 +NX_Q9NUV9 329 37534 7.66 0 Cytosol NA PE1 7 +NX_Q9NUW8 608 68420 7.34 0 Cell membrane;Nucleus;Nucleus;Cytoplasm Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy PE1 14 +NX_Q9NUX5 634 71442 6.26 0 Nucleus;Telomere;Nucleus Melanoma, cutaneous malignant 10;Glioma 9 PE1 7 +NX_Q9NUY8 699 78322 5.23 0 Golgi apparatus NA PE1 3 +NX_Q9NUZ1 547 61795 8.78 0 Nucleolus;Cytosol NA PE2 2 +NX_Q9NV06 445 51402 9.3 0 Nucleus;Nucleolus;Centrosome;Cytosol;Cell junction;Nucleolus NA PE1 8 +NX_Q9NV12 185 20419 7.62 4 Membrane NA PE1 7 +NX_Q9NV23 265 29931 5.81 0 NA NA PE1 10 +NX_Q9NV29 134 14386 9.55 2 Cell membrane;Membrane;Perikaryon;Perinuclear region;Endoplasmic reticulum NA PE1 17 +NX_Q9NV31 184 21850 9.54 0 Nucleus;Nucleus;Nucleolus;Nucleolus NA PE1 15 +NX_Q9NV35 164 18609 5.75 0 Nucleoplasm NA PE1 13 +NX_Q9NV39 138 14718 12.42 0 NA NA PE1 22 +NX_Q9NV44 126 13706 7.06 0 NA NA PE5 21 +NX_Q9NV56 204 22417 5.57 0 Nucleus;Nucleus NA PE1 20 +NX_Q9NV58 838 90696 6.59 2 Membrane;Centrosome NA PE1 8 +NX_Q9NV64 488 55667 9.01 8 Membrane;Nucleoplasm;Cytoplasmic vesicle NA PE1 3 +NX_Q9NV66 732 83702 6.42 0 NA NA PE1 7 +NX_Q9NV70 894 101982 6.17 0 Cell membrane;Midbody ring;Cytosol;Cytoskeleton;Cytoplasm;Perinuclear region NA PE1 4 +NX_Q9NV72 531 60903 9.41 0 Microtubule organizing center;Nucleus;Nucleoplasm NA PE1 19 +NX_Q9NV79 361 41072 5.8 0 Cytoplasm;Nucleoplasm;Cytoplasm;Mitochondrion NA PE1 20 +NX_Q9NV88 658 73814 5.9 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q9NV92 336 36390 4.99 3 Cytoplasmic vesicle;Endosome membrane;Golgi apparatus membrane;Multivesicular body membrane NA PE1 13 +NX_Q9NV96 361 40684 8.81 2 Membrane;Cell membrane;Golgi apparatus;Apical cell membrane;Mitochondrion;Secretory vesicle membrane NA PE1 6 +NX_Q9NVA1 299 34600 9.1 0 Mitochondrion inner membrane;Cytoplasmic vesicle;Cell membrane;Nucleoplasm;Cytoskeleton NA PE1 20 +NX_Q9NVA2 429 49398 6.36 0 Cell membrane;Cytoskeleton;Cytoplasm;Synapse;Dendritic spine;Cytoskeleton;Axon NA PE1 4 +NX_Q9NVA4 438 50142 5.85 7 Cytoplasmic vesicle;Nucleoplasm;Membrane NA PE1 4 +NX_Q9NVC3 462 49966 4.98 11 Cytosol;Nucleoplasm;Endosome;Membrane;Cell membrane NA PE1 16 +NX_Q9NVC6 651 72890 7.05 0 Cytoplasmic vesicle;Nucleus Microcephaly, postnatal progressive, with seizures and brain atrophy PE1 11 +NX_Q9NVD3 440 50416 8.53 0 Nucleus speckle NA PE1 21 +NX_Q9NVD7 372 42244 5.69 0 Focal adhesion;Cytoskeleton;Focal adhesion;Cell membrane;Cytoskeleton;Z line;Cytosol NA PE1 11 +NX_Q9NVE4 849 96402 8.74 0 NA NA PE1 11 +NX_Q9NVE5 1235 140130 5.46 0 Cytoplasmic vesicle NA PE1 2 +NX_Q9NVE7 773 85991 5.88 0 Cytoplasm;Cytosol NA PE1 1 +NX_Q9NVF7 368 41149 9.59 0 Nucleoplasm;Focal adhesion;Kinetochore NA PE1 1 +NX_Q9NVF9 386 44781 6.94 0 NA NA PE1 1 +NX_Q9NVG8 400 46554 5.11 0 Cytoplasm;Membrane;Nucleolus NA PE1 9 +NX_Q9NVH0 621 70353 8.63 0 Mitochondrion;Cytoskeleton;Nucleus NA PE1 14 +NX_Q9NVH1 559 63278 8.54 0 Cytosol;Mitochondrion outer membrane;Mitochondrion NA PE1 1 +NX_Q9NVH2 962 106834 8.3 0 Centrosome;Nucleus speckle;Nucleus;Nucleus;Cytoplasm;Chromosome NA PE1 1 +NX_Q9NVH6 421 49518 7.64 0 Mitochondrion;Mitochondrion;Mitochondrion matrix Autism, X-linked 6 PE1 X +NX_Q9NVI1 1328 149324 6.31 0 Nucleoplasm;Nucleus Fanconi anemia complementation group I PE1 15 +NX_Q9NVI7 634 71369 9.08 1 Mitochondrion nucleoid;Mitochondrion inner membrane Harel-Yoon syndrome PE1 1 +NX_Q9NVJ2 186 21539 8.67 0 Late endosome membrane;Lysosome membrane;Spindle NA PE1 3 +NX_Q9NVK5 253 29426 5.69 0 Mitochondrion;Cytoplasm NA PE1 12 +NX_Q9NVL1 165 18454 8.51 0 NA NA PE1 11 +NX_Q9NVL8 296 34690 9.28 0 Cytosol;Nucleus NA PE1 14 +NX_Q9NVM1 165 18374 4.62 1 Cytosol;Membrane NA PE1 1 +NX_Q9NVM4 692 78459 5.33 0 Nucleoplasm;Cytosol;Nucleus;Nucleolus Short stature, brachydactyly, intellectual developmental disability, and seizures PE1 16 +NX_Q9NVM6 304 34687 8.61 0 Nucleus;Nucleoplasm;Cytoplasm NA PE1 15 +NX_Q9NVM9 706 80225 6.24 0 Nucleus;Cytoplasm NA PE1 12 +NX_Q9NVN3 520 58825 5.52 0 Centrosome;Cytosol;Cell cortex NA PE1 12 +NX_Q9NVN8 582 65573 8.68 0 Nucleus;Cytosol;Nucleolus;Nucleolus NA PE1 X +NX_Q9NVP1 670 75407 9.52 0 Nucleolus;Nucleus;Nucleolus;Nucleolus;Chromosome NA PE1 2 +NX_Q9NVP2 202 22434 4.46 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q9NVP4 752 82192 8.44 0 Nucleolus NA PE1 20 +NX_Q9NVQ4 179 20215 5.55 0 Cytosol;Cell membrane;Cytoplasm NA PE1 3 +NX_Q9NVR0 708 80148 5.78 0 NA NA PE1 17 +NX_Q9NVR2 710 82236 7.24 0 Nucleoplasm;Nucleus;Cytosol NA PE1 8 +NX_Q9NVR5 837 91114 5.1 0 Cytosol;Cytoplasm Ciliary dyskinesia, primary, 10 PE1 14 +NX_Q9NVR7 557 63530 8.93 0 Spindle pole;Centrosome NA PE1 3 +NX_Q9NVS2 196 22184 10.35 0 Mitochondrion NA PE1 6 +NX_Q9NVS9 261 29988 6.61 0 Cytosol;Nucleoplasm Pyridoxine-5'-phosphate oxidase deficiency PE1 17 +NX_Q9NVT9 282 31281 5.54 0 Mitochondrion NA PE1 8 +NX_Q9NVU0 708 79898 6.05 0 Nucleoplasm;Nucleus NA PE1 16 +NX_Q9NVU7 687 79871 9.29 0 Nucleolus;Nucleus;Nucleolus NA PE1 4 +NX_Q9NVV0 291 32510 9.16 7 Endoplasmic reticulum membrane Osteogenesis imperfecta 14 PE1 9 +NX_Q9NVV2 129 13750 12 0 Nucleus;Cytosol NA PE1 19 +NX_Q9NVV4 582 66172 9.24 0 Cytoplasm;Mitochondrion;Mitochondrion Spastic ataxia 4, autosomal recessive PE1 10 +NX_Q9NVV5 245 28222 8.49 6 Golgi apparatus;Membrane NA PE1 6 +NX_Q9NVV9 213 24944 8.66 0 Nucleus;Nucleoplasm;PML body Dystonia 6, torsion PE1 8 +NX_Q9NVW2 624 68549 7.2 0 Nucleoplasm;Nucleus;Cytosol Mental retardation, X-linked 61 PE1 X +NX_Q9NVX0 235 26933 7.74 0 Nucleoplasm;Centrosome;Spindle;Centrosome;Cytosol NA PE1 15 +NX_Q9NVX2 485 53320 6.92 0 Nucleolus;Nucleolus;Nucleus NA PE1 17 +NX_Q9NVX7 518 58144 5.42 0 Cytoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA PE1 11 +NX_Q9NVZ3 263 28339 8.49 0 Cytoplasm;Nucleus;Endoplasmic reticulum;Clathrin-coated vesicle membrane;Cell membrane NA PE1 1 +NX_Q9NW07 568 59287 6.11 0 Nucleus;Nucleus NA PE1 19 +NX_Q9NW08 1133 127785 8.77 0 Nucleus speckle;Nucleus Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism PE1 12 +NX_Q9NW13 759 85738 9.26 0 Nucleolus;Nucleolus Alopecia, neurologic defects, and endocrinopathy syndrome PE1 7 +NX_Q9NW15 660 76329 7.1 8 Cell membrane Spinocerebellar ataxia, autosomal recessive, 10 PE1 3 +NX_Q9NW38 375 42905 6.02 0 Cytoplasmic vesicle;Nucleus;Cytoplasm;Nucleus Fanconi anemia complementation group L PE1 2 +NX_Q9NW61 149 17551 7.69 0 Mitochondrion NA PE1 19 +NX_Q9NW64 420 46896 8.83 0 Nucleus;Cytoplasm;Nucleus;Nucleus NA PE1 5 +NX_Q9NW68 430 47163 4.43 0 Golgi apparatus NA PE1 1 +NX_Q9NW75 528 58944 9.2 0 Nucleolus;Nucleus speckle;Nucleus speckle NA PE1 1 +NX_Q9NW81 257 29267 6 0 Mitochondrion;Mitochondrion NA PE1 19 +NX_Q9NW82 654 73201 5.94 0 Cytosol;Mitochondrion NA PE1 5 +NX_Q9NW97 253 27759 5.4 2 Cytosol;Membrane;Nucleoplasm NA PE1 1 +NX_Q9NWA0 146 16403 6.84 0 Midbody;Nucleus;Nucleoplasm NA PE1 17 +NX_Q9NWB1 397 42784 6.37 0 Cytoplasm;Cytosol;Nucleus;Golgi apparatus;Nucleus NA PE1 16 +NX_Q9NWB6 273 33216 10.35 0 Nucleus;Nucleoplasm;Nucleus;Mitochondrion NA PE1 13 +NX_Q9NWB7 429 49108 4.93 0 Cilium basal body;Cytosol;Nucleus speckle;Mitochondrion NA PE1 3 +NX_Q9NWC5 275 31680 7.13 5 Cytoskeleton;Membrane;Cytoskeleton NA PE1 3 +NX_Q9NWD8 314 35052 5.91 4 Membrane;Cytoplasmic vesicle NA PE1 7 +NX_Q9NWD9 120 14067 5.97 0 Nucleus;Cytoplasm;Nucleus;Spindle pole;Cytosol NA PE1 X +NX_Q9NWF4 448 46317 5.9 11 Cell membrane Riboflavin deficiency PE1 17 +NX_Q9NWF9 866 99406 4.83 0 Nucleus;Nucleoplasm;Cytosol;Cytoplasm Gordon Holmes syndrome PE1 7 +NX_Q9NWH2 141 14758 9.17 2 Membrane NA PE1 6 +NX_Q9NWH7 488 55989 8.8 0 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus;Secreted;Flagellum NA PE1 1 +NX_Q9NWH9 1034 117148 7.69 0 Nucleus;Nucleoplasm;Nucleus;Nucleus NA PE1 15 +NX_Q9NWK9 470 53918 5.62 0 Cytoplasmic vesicle;Nucleus speckle NA PE1 1 +NX_Q9NWL6 643 72080 6.4 0 Cytosol NA PE1 2 +NX_Q9NWM0 555 61819 5.29 0 Cytoplasm;Nucleus;Nucleus membrane;Cytoplasmic vesicle;Nucleoplasm NA PE1 20 +NX_Q9NWM3 386 42258 5.48 0 Cytosol;Centrosome;Mitochondrion NA PE1 17 +NX_Q9NWM8 211 24172 5.7 0 Cytosol;Golgi apparatus;Endoplasmic reticulum lumen;Nucleus Ehlers-Danlos syndrome, with progressive kyphoscoliosis, myopathy, and hearing loss PE1 7 +NX_Q9NWN3 711 78711 8.32 0 Nucleus speckle NA PE1 14 +NX_Q9NWQ4 482 54260 8.77 0 Cytosol;Nucleoplasm NA PE1 14 +NX_Q9NWQ8 432 46981 4.57 1 Cell membrane;Cytoplasmic vesicle;Cell membrane NA PE1 8 +NX_Q9NWQ9 140 16009 4.89 0 Cytosol;Mitochondrion;Mitochondrion NA PE1 14 +NX_Q9NWR8 336 39082 9.23 2 Nucleoplasm;Cytosol;Mitochondrion inner membrane NA PE1 4 +NX_Q9NWS0 290 32363 5.05 0 Cytosol NA PE1 19 +NX_Q9NWS1 579 65054 8.96 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 12 +NX_Q9NWS6 357 40269 5.7 1 Cytosol;Membrane;Cytoskeleton NA PE1 22 +NX_Q9NWS8 449 51604 8.88 0 Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 11 PE1 6 +NX_Q9NWS9 450 48957 5.72 0 Nucleus;Nucleus speckle NA PE1 19 +NX_Q9NWT1 392 43964 9.07 0 Nucleoplasm;Nucleolus NA PE1 6 +NX_Q9NWT6 349 40285 5.39 0 Nucleoplasm;Perinuclear region;Cytoplasm;Nucleus;Cytosol NA PE1 10 +NX_Q9NWT8 199 22354 10.76 0 Mitochondrion;Mitochondrion;Nucleoplasm;Nucleus NA PE1 1 +NX_Q9NWU1 459 48843 7.59 0 Mitochondrion;Mitochondrion;Cytosol NA PE1 3 +NX_Q9NWU2 228 26749 4.92 0 Nucleus;Cell junction;Nucleoplasm NA PE1 20 +NX_Q9NWU5 206 23641 9.95 0 Mitochondrion;Mitochondrion NA PE1 5 +NX_Q9NWV4 160 18048 4.93 0 Cytosol NA PE1 1 +NX_Q9NWV8 329 36560 4.6 0 Nucleus;Cytoplasm;Cytoplasm;Nucleus;Nucleus;Cytosol;Nucleus NA PE1 19 +NX_Q9NWW0 138 15291 6.83 0 Cytoplasm;Nucleus;Nucleoplasm NA PE1 16 +NX_Q9NWW5 311 35919 8.94 7 Cytoplasmic vesicle;Endoplasmic reticulum;Endoplasmic reticulum membrane Ceroid lipofuscinosis, neuronal, 4A;Ceroid lipofuscinosis, neuronal, 6 PE1 15 +NX_Q9NWW6 199 23193 4.82 0 Cytosol;Nucleoplasm NA PE1 9 +NX_Q9NWW7 574 64077 9.15 0 Nucleus NA PE1 2 +NX_Q9NWW9 162 17394 9.3 1 Membrane;Cytoplasm NA PE1 11 +NX_Q9NWX5 421 47136 5.62 0 Cytoplasm NA PE1 9 +NX_Q9NWX6 298 34831 8.12 0 Mitochondrion;Cytoplasm NA PE1 5 +NX_Q9NWY4 346 39436 6.34 0 Nucleus NA PE1 4 +NX_Q9NWZ3 460 51530 5.24 0 Cytoplasm;Cytoskeleton;Cytosol;Nucleolus Recurrent isolated invasive pneumococcal disease 1;IRAK4 deficiency PE1 12 +NX_Q9NWZ5 548 61141 6.93 0 Endoplasmic reticulum;Nucleus;Cytoplasm NA PE1 20 +NX_Q9NWZ8 242 28637 6.31 0 Gem;Cytoplasm;Cytosol;Nucleoplasm NA PE1 X +NX_Q9NX00 188 19658 7.84 3 Membrane NA PE1 19 +NX_Q9NX01 149 17015 5.63 0 Nucleus;Nucleoplasm;Cytosol NA PE1 16 +NX_Q9NX02 1062 120515 5.74 0 Cytoplasmic vesicle;Golgi apparatus;Cytoplasm;Cytosol NA PE1 19 +NX_Q9NX04 203 23373 5.47 0 Cytosol;Nucleus;Nucleus;Cytoplasm NA PE1 1 +NX_Q9NX05 1096 120588 9.19 0 Nucleus speckle NA PE1 X +NX_Q9NX07 287 32499 4.61 0 Cytosol;Cytoplasm;Nucleoplasm;Nucleus NA PE1 1 +NX_Q9NX08 183 21090 5.3 0 Nucleus;Cytoplasm;Cytosol;Nucleoplasm NA PE1 4 +NX_Q9NX09 232 25371 4.87 0 Nucleus;Cytosol;Mitochondrion;Cytoplasm;Cytosol NA PE1 10 +NX_Q9NX14 153 17317 5.17 1 Mitochondrion;Mitochondrion inner membrane;Mitochondrion Cardiomyopathy, infantile histiocytoid;Linear skin defects with multiple congenital anomalies 3;Mitochondrial complex I deficiency PE1 X +NX_Q9NX18 166 19599 6.33 0 Nucleolus;Mitochondrion matrix;Mitochondrion;Cytosol Paragangliomas 2 PE1 11 +NX_Q9NX20 251 28449 10.13 0 Mitochondrion NA PE1 11 +NX_Q9NX24 153 17201 8.48 0 Cytosol;Nucleoplasm;Nucleolus;Cajal body Dyskeratosis congenita, autosomal recessive, 2 PE1 5 +NX_Q9NX31 292 31779 8.74 0 Nucleolus;Nucleus speckle NA PE1 20 +NX_Q9NX36 388 45806 9.57 0 NA NA PE1 21 +NX_Q9NX38 181 20378 8.12 0 Nucleus speckle;Nucleoplasm;Cytosol NA PE1 9 +NX_Q9NX40 245 27626 7.02 0 Endosome;Mitochondrion NA PE1 4 +NX_Q9NX45 425 46941 6.79 0 Cytoplasmic vesicle;Nucleus NA PE2 13 +NX_Q9NX46 363 38947 4.95 0 Cytoplasm;Mitochondrion matrix;Nucleus;Nucleoplasm NA PE1 1 +NX_Q9NX47 278 31232 9 4 Mitochondrion outer membrane;Endoplasmic reticulum membrane;Mitochondrion NA PE1 10 +NX_Q9NX52 303 34021 6.61 7 Cell membrane NA PE1 1 +NX_Q9NX53 252 26357 9.73 0 NA NA PE1 9 +NX_Q9NX55 129 14665 4.9 0 Cytoplasm;Cytoskeleton;Cytoplasm;Nucleus;Nucleoplasm NA PE1 15 +NX_Q9NX57 234 26277 6.12 0 Cytoplasmic vesicle;Golgi apparatus;Phagosome membrane;Phagosome;Golgi apparatus NA PE1 13 +NX_Q9NX58 379 43615 9.57 0 Nucleolus;Nucleus;Nucleolus;Nucleolus;Nucleus NA PE1 4 +NX_Q9NX61 479 53602 8.75 8 Cytosol;Membrane NA PE1 19 +NX_Q9NX62 359 38681 6.38 1 Cytosol;Nucleus;Golgi apparatus;trans-Golgi network membrane Chondrodysplasia with joint dislocations, GPAPP type PE1 8 +NX_Q9NX63 227 26152 8.48 0 Mitochondrion;Mitochondrion;Nucleus;Mitochondrion inner membrane;Cytoplasm NA PE1 7 +NX_Q9NX65 697 78728 8.37 0 Nucleoplasm;Nucleus NA PE1 16 +NX_Q9NX70 200 21073 5.86 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q9NX74 493 55050 6.74 0 Cytosol;Cytoplasm;Endoplasmic reticulum NA PE1 16 +NX_Q9NX76 183 20419 5.23 3 Cytoskeleton;Cytosol;Membrane NA PE1 3 +NX_Q9NX77 482 55045 8.96 1 Virion;Cell membrane NA PE2 16 +NX_Q9NX78 707 79536 8.67 8 Membrane;Cytosol;Nucleus;Focal adhesion;Membrane Structural heart defects and renal anomalies syndrome PE1 14 +NX_Q9NX94 342 37828 5.02 1 Membrane;Nucleoplasm;Cytoskeleton NA PE1 10 +NX_Q9NX95 663 72388 5.87 1 Cytoplasmic vesicle;Cytoskeleton;Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 8 +NX_Q9NXA8 310 33881 8.82 0 Mitochondrion matrix;Mitochondrion intermembrane space;Cytosol;Nucleus;Cytoplasm;Mitochondrion;Mitochondrion NA PE1 6 +NX_Q9NXB0 559 64528 6.04 0 Centrosome;Cilium basal body Meckel syndrome 1;Bardet-Biedl syndrome 13;Joubert syndrome 28 PE1 17 +NX_Q9NXB9 296 34585 9.32 7 Endoplasmic reticulum membrane NA PE1 6 +NX_Q9NXC2 390 43158 5.63 0 Cytosol;Secreted;Nucleoplasm;Cell membrane NA PE1 6 +NX_Q9NXC5 875 98584 6.29 0 Cytosol;Nucleoplasm;Lysosome membrane NA PE1 7 +NX_Q9NXD2 777 88273 8.78 0 Cytosol;Nucleoplasm;Nucleus NA PE1 15 +NX_Q9NXE4 827 93352 8.11 1 Nucleus membrane;Cytosol;Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE1 2 +NX_Q9NXE8 425 49647 10.18 0 Nucleus speckle NA PE1 17 +NX_Q9NXF1 929 105674 9.43 0 Cytoplasm;Nucleolus;Nucleoplasm NA PE1 9 +NX_Q9NXF7 216 24193 5.71 0 Cell membrane;Cytosol NA PE1 4 +NX_Q9NXF8 308 35140 8.28 4 Golgi apparatus membrane;Golgi apparatus NA PE1 16 +NX_Q9NXG0 1405 161603 8.28 0 Centrosome;Cytosol;Nucleoplasm;Centriole NA PE1 9 +NX_Q9NXG2 353 39315 8.01 0 Cytosol NA PE1 16 +NX_Q9NXG6 502 56661 5.68 1 Cytosol;Endoplasmic reticulum membrane;Cytoplasmic vesicle NA PE1 3 +NX_Q9NXH3 145 16508 7.72 0 Cytoplasm NA PE1 15 +NX_Q9NXH8 423 46914 9.98 1 Membrane;Nucleoplasm NA PE1 9 +NX_Q9NXH9 659 72234 7.77 0 Nucleus;Cell membrane;Cytosol NA PE1 19 +NX_Q9NXI6 227 24145 7.02 2 Membrane NA PE2 1 +NX_Q9NXJ0 267 28069 6.81 4 Membrane NA PE1 11 +NX_Q9NXJ5 209 23138 5.54 0 Golgi apparatus;Cytoplasm NA PE1 19 +NX_Q9NXK6 330 38014 8.6 7 Cytoplasmic vesicle;Cell membrane NA PE1 15 +NX_Q9NXK8 326 37026 9.11 0 Mitochondrion NA PE1 19 +NX_Q9NXL2 777 89078 5.87 0 Centrosome;Nucleoplasm NA PE1 4 +NX_Q9NXL6 827 93839 6.95 11 Membrane NA PE1 3 +NX_Q9NXL9 1143 127313 7.87 0 Nucleoplasm;Nucleus Ovarian dysgenesis 4 PE1 6 +NX_Q9NXN4 497 56225 5.48 0 Endoplasmic reticulum NA PE1 1 +NX_Q9NXP7 522 59842 8.01 0 Nucleolus;Nucleus NA PE1 5 +NX_Q9NXR1 346 38808 5.2 0 Spindle;Kinetochore;Cytoskeleton;Cleavage furrow;Centrosome Lissencephaly 4;Microhydranencephaly PE1 16 +NX_Q9NXR5 420 44768 5.58 0 Cytosol;Cytoskeleton NA PE1 13 +NX_Q9NXR7 383 43552 5.53 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_Q9NXR8 418 46743 5.88 0 Nucleus;Nucleus Squamous cell carcinoma of the head and neck PE1 7 +NX_Q9NXS2 382 42924 9.84 1 Golgi apparatus;Golgi apparatus membrane NA PE1 19 +NX_Q9NXS3 571 64192 5.74 0 Cytosol NA PE2 14 +NX_Q9NXT0 402 46413 9.14 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA PE1 19 +NX_Q9NXU5 204 22876 5.41 0 Cell membrane;Cell junction;Golgi apparatus NA PE1 5 +NX_Q9NXV2 234 26093 5.89 0 Cytosol;Nucleus NA PE1 16 +NX_Q9NXV6 580 61125 9.13 0 Nucleoplasm;Nucleoplasm NA PE1 4 +NX_Q9NXW2 375 41819 8.67 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus membrane NA PE1 10 +NX_Q9NXW9 302 33838 6.27 0 Cytoplasm;Nucleus;Midbody NA PE1 7 +NX_Q9NXX6 385 44301 5.25 0 Cytoplasm;Nucleoplasm;Telomere;Nucleus NA PE1 10 +NX_Q9NXZ1 904 99225 6.02 0 Nucleus NA PE1 X +NX_Q9NXZ2 648 72844 8.91 0 Nucleus;Cytoplasm NA PE1 6 +NX_Q9NY12 217 22348 10.91 0 Nucleolus;Cajal body;Nucleolus;Nucleus NA PE1 4 +NX_Q9NY15 2570 275482 6.05 1 Membrane NA PE1 3 +NX_Q9NY25 188 21521 9.04 1 Cell membrane NA PE1 7 +NX_Q9NY26 324 34250 5.6 8 Cell membrane;Cytosol;Endoplasmic reticulum membrane NA PE1 1 +NX_Q9NY27 417 46898 4.48 0 Centrosome;Nucleus;Nucleoplasm NA PE1 3 +NX_Q9NY28 637 72851 9.02 1 Golgi apparatus membrane;Cytoplasmic vesicle NA PE1 12 +NX_Q9NY30 223 25970 8.86 0 Golgi apparatus;Endoplasmic reticulum NA PE2 11 +NX_Q9NY33 737 82589 5.01 0 Cell membrane;Cytosol;Nucleus speckle;Cytosol NA PE1 11 +NX_Q9NY35 253 28603 5.53 4 Cytosol;Membrane;Nucleolus;Nucleus NA PE1 3 +NX_Q9NY37 505 57464 8.51 2 Cell membrane NA PE1 4 +NX_Q9NY43 387 41981 8.67 0 Nucleus NA PE1 1 +NX_Q9NY46 2000 226294 5.6 24 Cell membrane NA PE1 2 +NX_Q9NY47 1150 129817 5.54 1 Cytoplasmic vesicle;Membrane NA PE1 3 +NX_Q9NY56 170 19318 8.37 0 Secreted NA PE1 9 +NX_Q9NY57 414 47883 7.63 0 Cytoskeleton NA PE1 4 +NX_Q9NY59 655 71081 5.52 0 Endoplasmic reticulum;Golgi apparatus membrane;Cell membrane NA PE1 16 +NX_Q9NY61 560 63133 4.83 0 Nucleolus NA PE1 17 +NX_Q9NY64 477 50819 7.55 12 Cell membrane;Cytoplasmic vesicle membrane;Cytoplasmic vesicle NA PE1 9 +NX_Q9NY65 449 50094 4.94 0 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 8 PE1 22 +NX_Q9NY72 215 24702 4.69 1 Cell membrane;Golgi apparatus;Membrane;Cytoskeleton;Nucleus membrane Brugada syndrome 7;Atrial fibrillation, familial, 16 PE1 11 +NX_Q9NY74 926 103440 7.71 0 Nucleus;Nucleoplasm;Cytosol NA PE1 2 +NX_Q9NY84 501 56118 5.66 0 Cell membrane NA PE2 6 +NX_Q9NY87 97 10982 5.22 0 Cytoplasm;Nucleus NA PE1 X +NX_Q9NY91 659 72456 5.8 11 Cell membrane NA PE1 22 +NX_Q9NY93 547 61590 9.34 0 Nucleus;Nucleolus NA PE1 7 +NX_Q9NY97 397 46022 8.75 1 Golgi apparatus membrane;Cytoplasmic vesicle NA PE1 2 +NX_Q9NY99 539 60217 7.59 0 Cytoskeleton;Sarcolemma NA PE1 2 +NX_Q9NYA1 384 42518 6.64 0 Cytoplasm;Cytosol;Cell membrane;Nucleus;Cell membrane NA PE1 17 +NX_Q9NYA3 693 79946 5.34 0 NA NA PE1 15 +NX_Q9NYA4 1195 133353 5.68 0 Cytoplasm;Membrane NA PE1 17 +NX_Q9NYB0 399 44260 4.64 0 Nucleus;Nucleus;Cytoplasm;Chromosome;Telomere;Nucleoplasm NA PE1 16 +NX_Q9NYB5 712 78696 8.82 12 Cell membrane NA PE2 12 +NX_Q9NYB9 513 55663 5.82 0 Nucleoplasm;Cytoskeleton;Cytoplasm;Filopodium;Lamellipodium NA PE1 2 +NX_Q9NYC9 4486 511877 5.64 0 Cilium axoneme NA PE1 17 +NX_Q9NYD6 342 38073 8.45 0 Nucleus;Nucleus NA PE1 12 +NX_Q9NYF0 836 90174 8.93 0 Cytoplasm;Nucleus;Synapse;Nucleoplasm Neural tube defects PE1 14 +NX_Q9NYF3 392 43091 9 0 NA NA PE1 5 +NX_Q9NYF5 915 104543 4.87 0 Nucleoplasm NA PE1 5 +NX_Q9NYF8 920 106122 9.99 0 Cytoplasm;Nucleus speckle;Nucleus;Nucleus speckle;Nucleoplasm NA PE1 6 +NX_Q9NYG2 299 34170 8.54 4 Golgi apparatus membrane;Golgi apparatus NA PE1 3 +NX_Q9NYG5 84 9841 7.99 0 Cytoplasm;Nucleus;Nucleoplasm;Nucleolus NA PE1 17 +NX_Q9NYG8 393 42704 8.91 4 Cell membrane NA PE1 11 +NX_Q9NYH9 597 70194 6.92 0 Nucleolus;Nucleolus NA PE1 17 +NX_Q9NYI0 1048 116034 5.68 0 Cytoplasmic vesicle;Nucleus;Postsynaptic density;Ruffle membrane;Cell membrane NA PE1 8 +NX_Q9NYJ1 87 10134 5.65 0 Nucleus;Cytoplasm;Nucleus;Nucleolus;Mitochondrion;Mitochondrion NA PE1 11 +NX_Q9NYJ7 618 64618 7.86 1 Cytosol;Nucleoplasm;Membrane Spondylocostal dysostosis 1, autosomal recessive PE1 19 +NX_Q9NYJ8 693 76494 8.8 0 Cytosol;Membrane;Cytosol Congenital heart defects, multiple types, 2 PE1 6 +NX_Q9NYK1 1049 120922 8.51 1 Phagosome;Endoplasmic reticulum membrane;Endosome;Lysosome NA PE1 X +NX_Q9NYK5 338 38712 7.56 0 Mitochondrion NA PE1 21 +NX_Q9NYK6 297 33948 6.1 0 Cytoplasm;Cytoskeleton;Cytoskeleton NA PE1 21 +NX_Q9NYL2 800 91155 7.9 0 Cytosol;Cytoplasm;Nucleus Split-foot malformation with mesoaxial polydactyly PE1 2 +NX_Q9NYL4 201 22180 9.44 1 Centrosome;Membrane NA PE1 12 +NX_Q9NYL5 469 54116 8.85 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 6 +NX_Q9NYL9 352 39595 5.08 0 Cytosol;Cytoskeleton;Cytoskeleton NA PE1 15 +NX_Q9NYM4 423 48339 9.32 7 Cell membrane NA PE2 11 +NX_Q9NYM9 111 12388 7.87 1 Nucleus;Golgi apparatus;trans-Golgi network membrane;Golgi apparatus membrane NA PE1 11 +NX_Q9NYN1 266 29662 9.16 0 NA NA PE1 15 +NX_Q9NYP3 566 62747 8.84 0 Cytosol;Nucleus;Nucleoplasm;Cell junction Microcephaly-micromelia syndrome;Microcephaly, short stature, and limb abnormalities PE1 21 +NX_Q9NYP7 299 35293 9.49 7 Endoplasmic reticulum;Endoplasmic reticulum membrane;Dendrite Spinocerebellar ataxia 38 PE1 6 +NX_Q9NYP8 219 24886 8.31 0 NA NA PE2 21 +NX_Q9NYP9 233 25863 5.14 0 Nucleus;Nucleus;Chromosome;Nucleus;Cytosol;Centromere NA PE1 21 +NX_Q9NYQ3 351 38839 7.57 0 Peroxisome NA PE1 1 +NX_Q9NYQ6 3014 329486 5.59 7 Cell membrane;Cell membrane Neural tube defects PE1 22 +NX_Q9NYQ7 3312 358185 6.23 7 Cell membrane NA PE1 3 +NX_Q9NYQ8 4349 479317 5 1 Cell membrane;Cell junction;Nucleus NA PE1 5 +NX_Q9NYR8 311 33755 8.74 3 Membrane NA PE1 19 +NX_Q9NYR9 191 21508 8.22 0 Nucleus;Nucleolus;Cytoplasm NA PE1 17 +NX_Q9NYS0 192 21643 5.99 0 Cytoplasm;Cytoskeleton NA PE1 3 +NX_Q9NYS7 404 45286 8.36 0 NA NA PE1 12 +NX_Q9NYT0 353 39971 9.45 0 Cytoplasmic vesicle;Cytosol;Cytoskeleton;Lamellipodium membrane NA PE1 14 +NX_Q9NYT6 803 91921 9.01 0 Nucleus;Nucleus NA PE1 19 +NX_Q9NYU1 1516 174735 6.43 0 Endoplasmic reticulum lumen;Endoplasmic reticulum-Golgi intermediate compartment NA PE1 13 +NX_Q9NYU2 1555 177190 5.42 0 Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum lumen NA PE1 2 +NX_Q9NYV4 1490 164155 9.46 0 Nucleus speckle;Nucleus;Nucleus NA PE1 17 +NX_Q9NYV6 651 74107 5.4 0 Nucleolus;Nucleolus NA PE1 16 +NX_Q9NYV7 291 33986 9.5 7 Cell membrane NA PE1 7 +NX_Q9NYV8 317 36160 10.12 7 Membrane NA PE1 12 +NX_Q9NYV9 303 35118 9.68 7 Membrane NA PE1 12 +NX_Q9NYW0 307 35365 9.55 7 Membrane NA PE1 12 +NX_Q9NYW1 312 35611 9.83 7 Membrane NA PE1 12 +NX_Q9NYW2 309 35877 9.66 7 Membrane NA PE1 12 +NX_Q9NYW3 318 36550 9.69 7 Membrane NA PE1 12 +NX_Q9NYW4 299 34505 9.86 7 Membrane NA PE1 7 +NX_Q9NYW5 299 33841 9.85 7 Cilium membrane;Membrane NA PE1 7 +NX_Q9NYW6 316 35915 9.72 7 Membrane NA PE2 7 +NX_Q9NYW7 299 34333 9.87 7 Membrane NA PE1 5 +NX_Q9NYW8 714 82995 7.02 0 Nucleoplasm;Nucleus NA PE1 7 +NX_Q9NYX4 217 23434 6.43 1 Cell membrane;Cytoplasmic vesicle membrane NA PE1 10 +NX_Q9NYY1 176 20072 8.92 0 Secreted NA PE1 1 +NX_Q9NYY3 685 78237 8.52 0 Nucleoplasm;Mitochondrion;Centriole;Cytosol;Dendrite NA PE1 5 +NX_Q9NYY8 710 81463 8.31 0 Mitochondrion nucleoid;Mitochondrion NA PE1 2 +NX_Q9NYZ1 205 23576 8.62 4 Membrane NA PE1 17 +NX_Q9NYZ2 338 37323 9.33 6 Cell membrane;Cytoplasm;Mitochondrion inner membrane NA PE1 8 +NX_Q9NYZ3 720 76645 9.45 0 Cytoskeleton;Cell membrane;Centrosome NA PE1 22 +NX_Q9NYZ4 499 54042 8.39 1 Membrane;Cytosol NA PE1 19 +NX_Q9NZ01 308 36034 9.5 3 Endoplasmic reticulum;Endoplasmic reticulum membrane Mental retardation, autosomal recessive 14 PE1 19 +NX_Q9NZ08 941 107235 6.02 1 Cell membrane;Nucleoplasm;Cytosol;Endoplasmic reticulum membrane NA PE1 5 +NX_Q9NZ09 502 55084 5.02 0 Cytoplasm;Cytosol;Cytosol;Endosome;Cell membrane NA PE1 9 +NX_Q9NZ20 509 57167 9.35 0 Secreted;Cell membrane;Centriole NA PE1 22 +NX_Q9NZ32 417 46307 7.06 0 Nucleolus;Cytoskeleton NA PE1 14 +NX_Q9NZ38 188 21312 10.21 0 NA NA PE2 10 +NX_Q9NZ42 101 12029 9.25 1 Endoplasmic reticulum membrane;Golgi stack membrane;Cell membrane;Membrane Acne inversa, familial, 2 PE1 19 +NX_Q9NZ43 259 29371 9.13 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 19 +NX_Q9NZ45 108 12199 9.2 1 Cytoplasm;Mitochondrion;Mitochondrion outer membrane NA PE1 10 +NX_Q9NZ52 723 78315 5.41 0 Golgi apparatus;trans-Golgi network membrane;Endosome membrane NA PE1 17 +NX_Q9NZ53 605 65076 4.27 1 Cytoplasmic vesicle;Golgi apparatus;Membrane NA PE1 3 +NX_Q9NZ56 1722 180106 5.32 0 Cytoskeleton;Cell membrane;Nucleolus;Cytoplasmic vesicle membrane;Cell cortex;Cell membrane;Perinuclear region;Cytoskeleton;Cytosol Mental retardation, autosomal recessive 47 PE1 1 +NX_Q9NZ63 289 33688 6.33 0 Nucleoplasm NA PE1 9 +NX_Q9NZ71 1219 133683 8.6 0 Nucleus;Nucleus Dyskeratosis congenita, autosomal recessive, 5;Dyskeratosis congenita, autosomal dominant, 4;Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 3 PE1 20 +NX_Q9NZ72 180 21017 6.99 0 Golgi apparatus;Growth cone;Axon NA PE1 20 +NX_Q9NZ81 148 15385 9.75 0 Cell membrane;Nucleoplasm;Nucleus;Nucleus NA PE1 12 +NX_Q9NZ94 848 93895 5.94 1 Cell membrane;Synapse Autism, X-linked 1;Asperger syndrome, X-linked, 1 PE1 X +NX_Q9NZA1 410 46503 4.71 1 Centrosome;Cytoskeleton;Cell membrane;Cell cortex;Nucleus speckle;Golgi apparatus;Membrane Deafness, autosomal recessive, 103 PE1 6 +NX_Q9NZB2 1118 121888 9.07 0 Cytosol;Cytoplasm;Cell membrane NA PE1 9 +NX_Q9NZB8 636 70105 9.4 0 Cell membrane;Cytosol Molybdenum cofactor deficiency, complementation group A PE1 6 +NX_Q9NZC2 230 25447 5.84 1 Cytoplasmic vesicle;Cell membrane;Secreted Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy PE1 6 +NX_Q9NZC3 331 37718 6.22 2 Cell membrane;Cytoplasmic vesicle membrane;Nucleolus;Cytoplasmic vesicle;Nucleus NA PE1 16 +NX_Q9NZC4 300 34892 6.83 0 Golgi apparatus;Nucleus;Nucleoplasm NA PE1 11 +NX_Q9NZC7 414 46677 6.71 0 Golgi apparatus;Nucleus;Cytosol;Mitochondrion;Cytoplasm;Golgi apparatus Spinocerebellar ataxia, autosomal recessive, 12;Epileptic encephalopathy, early infantile, 28;Esophageal cancer PE1 16 +NX_Q9NZC9 954 105938 9.15 0 Nucleus;Nucleoplasm Schimke immuno-osseous dysplasia PE1 2 +NX_Q9NZD1 345 38791 4.87 7 Cell membrane NA PE1 12 +NX_Q9NZD2 209 23850 6.91 0 Cytosol;Cytoplasm NA PE1 12 +NX_Q9NZD4 102 11840 4.9 0 Cytoplasm NA PE1 16 +NX_Q9NZD8 308 34960 5.85 0 Cytosol;trans-Golgi network membrane;Endosome membrane;Cytosol;Membrane;Cytoplasmic vesicle Spastic paraplegia 21, autosomal recessive PE1 15 +NX_Q9NZE8 188 21514 11.29 0 Mitochondrion NA PE1 2 +NX_Q9NZF1 115 12507 7.87 0 Cytosol NA PE1 4 +NX_Q9NZG7 142 15680 9.52 2 Membrane NA PE1 12 +NX_Q9NZH0 403 44795 8.56 7 Cytoplasmic vesicle;Nucleus;Cell membrane;Nucleolus;Cytoplasmic vesicle membrane NA PE1 16 +NX_Q9NZH4 202 22064 5.54 0 Cytoplasm;Nucleus NA PE5 8 +NX_Q9NZH5 202 22302 5.98 0 Cytoplasm;Nucleus NA PE2 4 +NX_Q9NZH6 218 24126 6.09 0 Cytosol;Nucleus;Secreted;Cytoplasmic vesicle;Nucleoplasm NA PE1 2 +NX_Q9NZH7 164 18522 9.6 0 Secreted NA PE1 2 +NX_Q9NZH8 169 18721 5.06 0 Secreted NA PE1 2 +NX_Q9NZI2 227 26817 5.1 0 Cell membrane;Cytoplasm;Dendrite NA PE1 5 +NX_Q9NZI5 618 70113 6.26 0 Cytoplasmic vesicle;Nucleus;Nucleus;Golgi apparatus NA PE1 2 +NX_Q9NZI6 479 54627 6.53 0 Nucleus;Nucleolus NA PE1 2 +NX_Q9NZI7 540 60491 5.92 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q9NZI8 577 63481 9.26 0 Cytosol;Nucleus;Axon;Dendrite;Dendritic spine;Growth cone;Filopodium;Cytoplasm;Perinuclear region;Lamellipodium NA PE1 17 +NX_Q9NZJ0 730 79468 9.11 0 Centrosome;Cytosol;Nucleus;Nucleus;Nucleus membrane;Chromosome NA PE1 1 +NX_Q9NZJ4 4579 521126 6.63 0 Cytoplasm Spastic ataxia Charlevoix-Saguenay type PE1 13 +NX_Q9NZJ5 1116 125216 5.27 1 Endoplasmic reticulum membrane Wolcott-Rallison syndrome PE1 2 +NX_Q9NZJ6 369 41054 7.1 0 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA PE1 6 +NX_Q9NZJ7 389 41544 9.4 2 Mitochondrion inner membrane NA PE1 6 +NX_Q9NZJ9 180 20306 5.99 0 Cytoplasm NA PE1 12 +NX_Q9NZK5 511 58934 7.75 0 Secreted Sneddon syndrome;Polyarteritis nodosa PE1 22 +NX_Q9NZK7 142 15989 8.61 0 Secreted NA PE1 1 +NX_Q9NZL3 707 82280 9.01 0 Nucleus membrane;Nucleus;Nucleus NA PE1 19 +NX_Q9NZL4 362 39474 5.13 0 Cytoplasmic vesicle;Cytosol NA PE1 19 +NX_Q9NZL6 768 86701 5.78 0 Nucleoplasm;Golgi apparatus;Cytoplasmic vesicle NA PE1 1 +NX_Q9NZL9 334 37552 6.9 0 Nucleus NA PE1 5 +NX_Q9NZM1 2061 234709 5.84 1 Cell membrane;Nucleus membrane;Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Nucleus membrane;Cell membrane;Cell membrane NA PE1 10 +NX_Q9NZM3 1697 193461 8.32 0 Cytoplasm;Cell membrane;Cytoplasmic vesicle NA PE1 2 +NX_Q9NZM4 1560 158490 6.17 0 Nucleoplasm NA PE1 19 +NX_Q9NZM5 478 54389 10.32 0 Nucleolus;Nucleoplasm;Nucleolus NA PE1 19 +NX_Q9NZM6 624 73790 9 6 Cell membrane;Membrane;Cytosol NA PE1 5 +NX_Q9NZN1 696 79969 5.87 1 Cell membrane;Cytoplasm;Axon;Dendrite Mental retardation, X-linked 21 PE1 X +NX_Q9NZN3 535 60887 6.12 0 Cell membrane;Recycling endosome membrane;Cilium membrane NA PE1 2 +NX_Q9NZN4 543 61161 6.03 0 Cytosol;Endosome membrane;Caveola;Cell membrane NA PE1 19 +NX_Q9NZN5 1544 173232 5.49 0 Cytoplasm;Membrane;Cytosol;Cell membrane;Nucleoplasm NA PE1 11 +NX_Q9NZN8 540 59738 7.23 0 Cytoplasm;Nucleus;Cytosol;Nucleus;Nucleus NA PE1 12 +NX_Q9NZN9 384 43903 5.63 0 Cytoplasm;Nucleus Leber congenital amaurosis 4 PE1 17 +NX_Q9NZP0 311 35531 8.75 7 Cell membrane NA PE3 12 +NX_Q9NZP2 312 35178 8.96 7 Cell membrane NA PE3 12 +NX_Q9NZP5 309 35304 9.13 7 Cell membrane NA PE3 3 +NX_Q9NZP6 1156 120954 8.94 0 Nucleus inner membrane;Nucleoplasm NA PE1 15 +NX_Q9NZP8 487 53498 6.75 0 Cytosol;Cytoskeleton;Secreted NA PE1 12 +NX_Q9NZQ0 273 30855 8.71 0 Cytosol;Nucleus NA PE1 2 +NX_Q9NZQ3 722 78960 5.94 0 Cell membrane;Cytosol;Nucleus NA PE1 3 +NX_Q9NZQ7 290 33275 6.76 1 Cytosol;Cell membrane;Endomembrane system NA PE1 9 +NX_Q9NZQ8 1165 131451 6.32 6 Cell membrane NA PE2 11 +NX_Q9NZQ9 345 39335 4.69 0 Cytoskeleton NA PE1 1 +NX_Q9NZR1 351 39595 5.21 0 Cytoskeleton;Nucleus;Nucleolus NA PE1 15 +NX_Q9NZR2 4599 515498 5.09 1 Cytoplasmic vesicle;Membrane NA PE1 2 +NX_Q9NZR4 365 38431 8.99 0 Nucleus Craniofacial anomalies and anterior segment dysgenesis syndrome;Keratoconus 1 PE1 20 +NX_Q9NZS2 232 26666 8.84 1 Membrane NA PE1 12 +NX_Q9NZS9 450 52738 6.11 4 Endoplasmic reticulum membrane NA PE1 16 +NX_Q9NZT1 146 15893 4.34 0 Cytosol;Cell membrane NA PE1 10 +NX_Q9NZT2 677 73325 4.77 0 Cytoplasm;Nucleus;Nucleoplasm NA PE1 20 +NX_Q9NZU0 649 73004 7.55 1 Cytoskeleton;Cell membrane;Endoplasmic reticulum membrane;Focal adhesion;Secreted;Axon;Cytosol;Cell membrane Hypogonadotropic hypogonadism 21 with or without anosmia PE1 20 +NX_Q9NZU1 646 71358 5.95 1 Cell membrane;Endoplasmic reticulum membrane;Focal adhesion;Secreted;Cell projection;Cell junction;Cytoplasmic vesicle membrane;Perinuclear region NA PE1 11 +NX_Q9NZU5 365 40833 8.27 0 Cell membrane;Nucleus;Cytoplasm;Cell junction;Cytosol;Nucleus NA PE1 3 +NX_Q9NZU7 370 39838 8.65 0 Cell membrane;Golgi apparatus;Cytoskeleton;Perinuclear region;Cell membrane;Cell cortex;Postsynaptic density NA PE1 12 +NX_Q9NZV1 1036 113738 5.08 1 Secreted;Cell membrane NA PE1 2 +NX_Q9NZV5 590 65813 5.32 0 Cytosol;Endoplasmic reticulum membrane Rigid spine muscular dystrophy 1;Myopathy, congenital, with fiber-type disproportion PE1 1 +NX_Q9NZV6 116 12760 8.64 0 Cytoplasm;Nucleus;Cytoskeleton NA PE1 16 +NX_Q9NZV7 527 61164 6.3 0 Nucleus speckle;Cytosol;Nucleus NA PE1 19 +NX_Q9NZV8 630 70537 8.24 6 Synapse;Cell membrane;Dendrite;Perikaryon;Postsynaptic cell membrane;Dendritic spine;Cell junction NA PE1 7 +NX_Q9NZW4 1301 131151 3.58 0 Extracellular matrix Dentin dysplasia 2;Dentinogenesis imperfecta, Shields type 3;Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1;Dentinogenesis imperfecta, Shields type 2 PE1 4 +NX_Q9NZW5 540 61117 5.82 0 Membrane NA PE1 7 +NX_Q9NZY2 134 14626 6.88 0 NA NA PE5 14 +NX_Q9NZZ3 219 24571 4.68 0 Midbody;Cytosol;Cytosol;Endosome membrane;Cytoskeleton NA PE1 9 +NX_Q9P000 198 21819 5.6 0 Cytosol;Golgi apparatus;Nucleus;Nucleus;Cytoplasmic vesicle NA PE1 11 +NX_Q9P003 139 16093 6.16 3 Endoplasmic reticulum;Membrane;Endoplasmic reticulum;Endoplasmic reticulum-Golgi intermediate compartment NA PE1 1 +NX_Q9P013 229 26624 5.55 0 Nucleus speckle;Mitochondrion;Nucleus NA PE1 11 +NX_Q9P015 296 33420 10.02 0 Mitochondrion;Mitochondrion NA PE1 8 +NX_Q9P016 225 25697 9.3 0 Cytosol;Nucleolus;Nucleus;Nucleus NA PE1 11 +NX_Q9P021 101 11216 9.57 0 Cytoplasm;Synapse;Dendritic spine;Nucleolus;Nucleus Short stature with microcephaly and distinctive facies PE1 2 +NX_Q9P031 241 28670 9.89 0 Nucleus;Nucleolus;Nucleus NA PE1 12 +NX_Q9P032 175 20266 8.85 0 Membrane;Mitochondrion;Mitochondrion Mitochondrial complex I deficiency PE1 6 +NX_Q9P035 362 43160 9.04 6 Cell membrane;Endoplasmic reticulum;Cytoplasm;Endoplasmic reticulum;Nucleus membrane;Cytosol;Endoplasmic reticulum membrane;Mitochondrion NA PE1 15 +NX_Q9P055 326 36751 8.18 7 Endoplasmic reticulum;Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum membrane NA PE1 14 +NX_Q9P086 117 13129 5.71 0 Nucleoplasm;Nucleus;Nucleus NA PE1 17 +NX_Q9P0B6 97 11459 9.52 1 Cytosol;Membrane NA PE1 6 +NX_Q9P0G3 267 29122 9.47 0 Extracellular space NA PE1 19 +NX_Q9P0I2 261 29952 6.33 2 Cytoskeleton;Cytosol;Membrane NA PE1 3 +NX_Q9P0J0 144 16698 8.02 1 Mitochondrion;Mitochondrion inner membrane;Nucleus Hurthle cell thyroid carcinoma PE1 19 +NX_Q9P0J1 537 61054 6.2 0 Cytosol;Mitochondrion matrix;Mitochondrion;Nucleoplasm Pyruvate dehydrogenase phosphatase deficiency PE1 8 +NX_Q9P0J6 103 11784 11.27 0 Nucleus;Mitochondrion;Mitochondrion NA PE1 5 +NX_Q9P0J7 381 41945 5.41 0 Nucleoplasm;Cytosol NA PE1 2 +NX_Q9P0K1 906 100433 6.91 1 Cell junction;Membrane;Axon NA PE1 7 +NX_Q9P0K7 980 110041 5.87 0 Cytosol;Cell cortex;Cell junction;Nucleus;Cytoskeleton;Cytoskeleton;Nucleus NA PE1 5 +NX_Q9P0K8 574 62395 6.2 0 Nucleolus;Nucleus;Nucleus NA PE1 12 +NX_Q9P0K9 344 37270 7.55 1 Cell membrane;Synapse Epileptic encephalopathy, early infantile, 37 PE1 9 +NX_Q9P0L0 249 27893 8.8 1 Endoplasmic reticulum;Cell membrane;Endoplasmic reticulum membrane;Nucleus membrane;Tight junction;Cell membrane;Endoplasmic reticulum NA PE1 18 +NX_Q9P0L1 754 85033 7.26 0 Nucleus NA PE1 3 +NX_Q9P0L2 795 89003 9.42 0 Cell membrane;Cytoskeleton NA PE1 1 +NX_Q9P0L9 805 91982 5.34 6 Cilium membrane;Cell membrane;Endoplasmic reticulum NA PE1 10 +NX_Q9P0M2 348 39518 5.85 0 Nucleus;Cytoplasm NA PE1 6 +NX_Q9P0M4 197 21765 8.44 0 Secreted NA PE1 16 +NX_Q9P0M6 372 40058 9.71 0 Nucleoplasm;Chromosome;Nucleus NA PE1 10 +NX_Q9P0M9 148 16073 10.42 0 Mitochondrion NA PE1 17 +NX_Q9P0N5 145 16487 9.39 4 Cilium basal body;Membrane Joubert syndrome 2;Meckel syndrome 2 PE1 11 +NX_Q9P0N8 246 26995 7.46 2 Cytosol;Endosome membrane;Lysosome membrane;Endoplasmic reticulum membrane NA PE1 19 +NX_Q9P0N9 293 33972 8.08 0 Cytoplasmic vesicle Macrocephaly/megalencephaly syndrome, autosomal recessive PE1 6 +NX_Q9P0P0 153 17909 4.93 0 Nucleoplasm;Cytosol NA PE1 2 +NX_Q9P0P8 240 27941 9.31 0 NA NA PE1 6 +NX_Q9P0R6 139 15648 4.36 0 Golgi apparatus;Cytoplasm;Nucleus;Nucleolus;Cytoplasmic vesicle NA PE1 14 +NX_Q9P0S2 106 12293 9.49 1 Cytoplasm;Cell membrane;Mitochondrion;Mitochondrion membrane NA PE1 14 +NX_Q9P0S3 153 17371 9.64 2 Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 2 +NX_Q9P0S9 112 11565 9.87 4 Mitochondrion membrane NA PE1 6 +NX_Q9P0T4 197 22010 9.16 0 Nucleus NA PE1 19 +NX_Q9P0T7 183 20574 6.21 1 Endoplasmic reticulum;Late endosome membrane;Lysosome membrane NA PE1 1 +NX_Q9P0U1 55 6248 10.28 1 Cytoplasm;Mitochondrion;Mitochondrion outer membrane NA PE1 7 +NX_Q9P0U3 644 73481 8.69 0 Nucleus;Focal adhesion;Nucleus;Cytoplasm NA PE1 12 +NX_Q9P0U4 656 75712 8.61 0 Nucleus;Nucleus;Nucleus speckle NA PE1 18 +NX_Q9P0V3 963 107496 7.77 0 Clathrin-coated vesicle;Nucleus;Clathrin-coated pit NA PE1 2 +NX_Q9P0V8 285 31670 5.8 1 Membrane NA PE1 1 +NX_Q9P0V9 454 52593 6.35 0 Cytoplasm;Cell membrane;Cytoplasm;Cytoskeleton;Cytoskeleton NA PE1 2 +NX_Q9P0W0 207 25218 8.66 0 Secreted NA PE1 9 +NX_Q9P0W2 317 35813 9.38 0 Nucleoplasm;Nucleus;Chromosome NA PE1 19 +NX_Q9P0W8 599 67719 5.9 0 Cytoskeleton;Cytosol;Cytoskeleton;Cilium basal body;Cilium axoneme;Mitochondrion;Nucleoplasm Leber congenital amaurosis 3;Retinitis pigmentosa autosomal recessive PE1 14 +NX_Q9P0X4 2223 245103 6.09 24 Membrane NA PE1 22 +NX_Q9P0Z9 390 44066 8.67 0 Peroxisome NA PE1 17 +NX_Q9P104 306 35464 9.02 0 Focal adhesion NA PE1 20 +NX_Q9P107 970 106683 5.5 0 Nucleoplasm;Cytosol;Cell membrane NA PE1 19 +NX_Q9P109 453 53052 8.48 1 Golgi apparatus membrane;Nucleoplasm;Golgi apparatus NA PE1 5 +NX_Q9P121 344 37971 7.98 0 Cell membrane NA PE1 11 +NX_Q9P126 229 26596 8.79 1 Membrane NA PE1 12 +NX_Q9P127 313 35937 9.47 0 Nucleus;Cytoplasm NA PE1 X +NX_Q9P1A2 415 45908 4.62 0 NA NA PE5 20 +NX_Q9P1A6 1054 117620 6.42 0 Postsynaptic density;Synapse;Cell membrane NA PE1 8 +NX_Q9P1C3 46 5407 10.93 0 Secreted NA PE5 14 +NX_Q9P1D8 64 6607 11.3 0 NA NA PE5 16 +NX_Q9P1F3 81 9056 5.86 0 Cytosol;Nucleoplasm NA PE1 6 +NX_Q9P1G2 102 11378 8.77 0 NA NA PE5 8 +NX_Q9P1J3 65 7343 6.54 0 NA NA PE5 14 +NX_Q9P1P4 343 39065 8.7 7 Cell membrane NA PE5 6 +NX_Q9P1P5 351 40134 8.91 7 Cell membrane NA PE2 6 +NX_Q9P1Q0 977 110589 6.1 0 trans-Golgi network;Golgi apparatus;Nucleoplasm NA PE1 2 +NX_Q9P1Q5 309 34565 8.96 7 Cell membrane NA PE2 17 +NX_Q9P1T7 246 25788 5.09 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Nucleolus NA PE1 7 +NX_Q9P1U0 126 13904 4.9 0 Nucleolus;Nucleolus NA PE1 6 +NX_Q9P1U1 418 47608 5.61 0 Cell projection;Cytoskeleton NA PE1 7 +NX_Q9P1V8 674 77151 4.43 0 Nucleus;Nucleolus;Nucleus membrane NA PE1 14 +NX_Q9P1W3 806 93317 6.59 10 Membrane;Centrosome NA PE1 14 +NX_Q9P1W8 387 42498 6.71 1 Membrane NA PE1 20 +NX_Q9P1W9 311 34190 5.58 0 Cytosol NA PE1 X +NX_Q9P1Y5 1249 134750 8.61 0 Nucleoplasm;Centrosome;Cytoskeleton;Adherens junction;Cytoplasm NA PE1 19 +NX_Q9P1Y6 1649 178666 9.15 0 NA NA PE1 11 +NX_Q9P1Z0 1013 105114 8.65 0 Nucleoplasm;Nucleus;Chromosome;Cytosol;Nucleus NA PE1 17 +NX_Q9P1Z2 691 77336 4.77 0 Cytoplasm;Cytosol;Cytoplasm;Nucleus NA PE1 12 +NX_Q9P1Z3 774 86032 9.75 6 Cell membrane NA PE1 1 +NX_Q9P1Z9 1646 191100 5.74 1 Membrane NA PE1 9 +NX_Q9P202 907 96586 8.85 0 Cytoplasm;Stereocilium;Growth cone Deafness, autosomal recessive, 31;Usher syndrome 2D PE1 9 +NX_Q9P203 1132 126368 6.51 0 Focal adhesion;Nucleus NA PE1 14 +NX_Q9P206 1035 107095 9.75 0 Nucleoplasm;Cell membrane;Cell junction NA PE1 1 +NX_Q9P209 647 71718 6.08 0 Centrosome;Centriolar satellite;Centrosome NA PE1 5 +NX_Q9P212 2302 258715 6.07 0 Cytosol;Cell membrane;Cytosol;Golgi apparatus membrane Nephrotic syndrome 3 PE1 10 +NX_Q9P215 609 69444 5.06 0 Cytoplasmic vesicle;Nucleus;Nucleoplasm NA PE1 1 +NX_Q9P217 1185 130634 6.78 0 Nucleus speckle NA PE2 1 +NX_Q9P218 1284 135830 8.27 0 Extracellular space NA PE1 20 +NX_Q9P219 2028 228230 5.87 0 Nucleolus;Cytoplasm;Nucleus Spinocerebellar ataxia 40;Hydrocephalus, non-syndromic, autosomal recessive 1 PE1 14 +NX_Q9P225 4427 507698 5.98 0 Cytoskeleton;Cilium axoneme NA PE1 17 +NX_Q9P227 1491 162192 9.31 0 Cell membrane;Cytosol;Nucleoplasm NA PE1 17 +NX_Q9P232 1028 112883 5.94 0 Cell membrane NA PE1 3 +NX_Q9P241 1426 160274 6.78 10 Cell membrane;Nucleoplasm;Cell membrane;Endoplasmic reticulum membrane NA PE1 4 +NX_Q9P242 653 70548 8.71 0 Nucleoplasm;Cytoskeleton NA PE1 2 +NX_Q9P243 1243 139034 6.9 0 Nucleoplasm;Nucleus;Cytosol;Nucleus NA PE1 8 +NX_Q9P244 771 82318 6.62 1 Membrane;Synapse;Postsynaptic density NA PE1 19 +NX_Q9P246 746 83971 6.3 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA PE1 4 +NX_Q9P253 973 110186 5.72 0 Clathrin-coated vesicle;Late endosome membrane;Lysosome membrane;Early endosome;Autophagosome NA PE1 15 +NX_Q9P255 531 61158 9.4 0 Nucleus NA PE2 19 +NX_Q9P258 522 56085 9.02 0 Centromere;Spindle;Nucleolus NA PE1 1 +NX_Q9P260 1216 134630 5.28 0 Nucleoplasm;Cytosol NA PE1 18 +NX_Q9P265 1576 171492 8.43 0 Endoplasmic reticulum NA PE1 12 +NX_Q9P266 1359 148351 6.65 0 Cytoplasmic vesicle;Cell junction;Adherens junction NA PE1 10 +NX_Q9P267 1494 159895 9.17 0 Nucleus;Chromosome;Nucleus;Midbody Mental retardation, autosomal dominant 1 PE1 2 +NX_Q9P270 581 62543 9.48 0 Cytosol;Centrosome;Cytoskeleton NA PE1 4 +NX_Q9P272 454 51299 6.2 0 Cytosol;Nucleus NA PE2 8 +NX_Q9P273 2699 300950 5.99 1 Membrane;Axon;Nucleoplasm Microphthalmia, isolated, with coloboma, 9 PE1 4 +NX_Q9P275 1121 122652 9.71 0 Nucleolus;Nucleolus;Nucleus speckle NA PE1 17 +NX_Q9P278 1114 122115 6.2 0 Cytoplasm NA PE1 4 +NX_Q9P281 2608 276932 9.02 0 Nucleolus NA PE1 17 +NX_Q9P283 1151 125913 7.99 1 Cytosol;Membrane NA PE1 3 +NX_Q9P286 719 80745 8.19 0 Cytoplasm;Nucleus;Nucleoplasm;Mitochondrion NA PE1 20 +NX_Q9P287 314 35979 4.51 0 Nucleus;Cytosol;Nucleoplasm;Spindle pole;Centriole;Nucleus;Centrosome NA PE1 10 +NX_Q9P289 416 46529 5.16 0 Cytosol;Cytoplasm;Nucleus;Centrosome;Golgi apparatus;Golgi apparatus NA PE1 X +NX_Q9P291 453 49180 9.32 1 Nucleus;Mitochondrion;Cytosol;Mitochondrion;Mitochondrion outer membrane NA PE1 X +NX_Q9P296 337 36080 8.17 7 Cell membrane NA PE1 19 +NX_Q9P298 99 11058 9.55 2 Membrane NA PE1 17 +NX_Q9P299 210 23548 5.08 0 Cytoplasm;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus membrane;COPI-coated vesicle membrane NA PE1 17 +NX_Q9P2A4 366 39035 4.99 0 Cytoplasm;Cytoplasm NA PE1 17 +NX_Q9P2B2 879 98556 6.16 1 Endoplasmic reticulum membrane;trans-Golgi network membrane NA PE1 1 +NX_Q9P2B4 639 70158 8.22 0 Cytoskeleton;Nucleolus;Cytosol;Cytoskeleton NA PE1 1 +NX_Q9P2B7 532 59475 9.12 0 Cytosol;Cell membrane;Nucleolus NA PE1 4 +NX_Q9P2C4 612 69325 9.1 9 Membrane;Cytoplasmic vesicle;Golgi apparatus NA PE1 6 +NX_Q9P2D0 1353 150528 7.79 0 Nucleus;Membrane;Nucleoplasm;Cytoplasm NA PE1 6 +NX_Q9P2D1 2997 335927 5.95 0 Nucleus;Nucleolus;Nucleus CHARGE syndrome;Hypogonadotropic hypogonadism 5 with or without anosmia;Idiopathic scoliosis 3 PE1 8 +NX_Q9P2D3 2071 224302 6.77 0 Nucleolus;Cytosol;Nucleus NA PE1 2 +NX_Q9P2D6 1515 169840 5.22 0 Cytoplasm;Cytosol;Nucleoplasm NA PE1 6 +NX_Q9P2D7 4330 493953 5.65 0 Flagellum;Cilium axoneme Spermatogenic failure 18;Ciliary dyskinesia, primary, 37 PE1 3 +NX_Q9P2D8 2635 295326 5.9 2 Membrane NA PE2 14 +NX_Q9P2E2 1029 115068 5.38 0 Cell membrane;Nucleoplasm;Cilium;Cytoskeleton NA PE1 1 +NX_Q9P2E3 1918 220227 7.06 0 Mitochondrion NA PE1 20 +NX_Q9P2E5 772 85948 7.94 1 Nucleoplasm;Golgi stack membrane;Cytosol NA PE1 7 +NX_Q9P2E7 1040 112936 4.74 1 Golgi apparatus;Nucleus;Cell membrane;Cytoplasmic vesicle NA PE1 4 +NX_Q9P2E8 410 45528 8.18 2 Golgi apparatus membrane NA PE2 2 +NX_Q9P2E9 1410 152472 8.69 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 20 +NX_Q9P2F5 926 102671 8.67 0 Nucleoplasm;Cytoskeleton;Cytosol NA PE1 4 +NX_Q9P2F6 1191 132608 8.26 0 Mitochondrion NA PE1 11 +NX_Q9P2F8 1722 190438 6.31 0 Nucleus membrane;Nucleus;Golgi apparatus NA PE1 1 +NX_Q9P2F9 582 65547 8.75 0 Nucleus;Nucleus NA PE1 16 +NX_Q9P2G1 1089 122002 4.98 0 Cytosol;Cell membrane NA PE1 7 +NX_Q9P2G3 628 70714 6.21 0 Cytoskeleton;Cytosol;Cytosol;Endoplasmic reticulum membrane NA PE1 18 +NX_Q9P2G4 905 100345 6.77 0 Cytoskeleton;Spindle pole;Centrosome;Midbody NA PE1 1 +NX_Q9P2G9 620 68802 6.12 0 Nucleoplasm NA PE1 4 +NX_Q9P2H0 1117 125870 8.95 0 Cytosol;Midbody;Centrosome;Cilium basal body;Nucleoplasm NA PE1 11 +NX_Q9P2H3 777 88035 7.59 0 Cilium basal body;Cilium axoneme;Cytoplasm Short-rib thoracic dysplasia 2 with or without polydactyly PE1 3 +NX_Q9P2H5 1018 113405 5.42 0 Nucleus;Nucleolus NA PE1 11 +NX_Q9P2I0 782 88487 4.98 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA PE1 14 +NX_Q9P2J2 1179 126580 6.74 1 Synapse;Cell membrane NA PE1 1 +NX_Q9P2J3 617 69429 5.92 0 NA NA PE1 9 +NX_Q9P2J5 1176 134466 6.95 0 Cytoplasm;Nucleus;Cytosol Infantile liver failure syndrome 1 PE1 5 +NX_Q9P2J8 865 99929 9.13 0 Cytoplasmic vesicle;Nucleus NA PE1 17 +NX_Q9P2J9 529 59978 5.69 0 Mitochondrion;Mitochondrion matrix NA PE1 16 +NX_Q9P2K1 1620 186185 6.3 0 Cytoplasm;Cilium basal body Joubert syndrome 9;COACH syndrome;Meckel syndrome 6 PE1 4 +NX_Q9P2K2 825 93572 5.1 0 Secreted;Endoplasmic reticulum lumen;Mitochondrion NA PE1 14 +NX_Q9P2K3 495 55581 8.26 0 Nucleus;Nucleus;Nucleolus NA PE1 1 +NX_Q9P2K5 600 64122 8.86 0 Nucleus;Nucleoplasm NA PE1 15 +NX_Q9P2K6 505 56868 5.52 0 Spindle;Cytoplasm NA PE1 12 +NX_Q9P2K8 1649 186911 5.88 0 Cytosol;Cytoplasm Pulmonary venoocclusive disease 2, autosomal recessive PE1 15 +NX_Q9P2K9 1392 153048 7.5 12 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Nucleus membrane;Cytoplasmic vesicle membrane;Membrane NA PE2 1 +NX_Q9P2L0 1181 133547 5.98 0 Centrosome;Cilium axoneme;Cilium basal body Cranioectodermal dysplasia 2;Short-rib thoracic dysplasia 7 with or without polydactyly PE1 2 +NX_Q9P2M1 347 39780 7.99 0 Cytoplasm NA PE1 4 +NX_Q9P2M4 693 78137 6.57 0 Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus;cis-Golgi network;trans-Golgi network NA PE1 4 +NX_Q9P2M7 1197 136386 5.46 0 Cell membrane;Tight junction;Cell junction NA PE1 1 +NX_Q9P2N2 729 82060 7.62 0 Cell junction NA PE1 18 +NX_Q9P2N4 1935 216491 8.13 0 Cytoplasmic vesicle;Endoplasmic reticulum;Endoplasmic reticulum;Extracellular matrix NA PE1 3 +NX_Q9P2N5 1060 118718 9.24 0 Cytoplasm;Cytoplasm;Nucleus speckle;Nucleus speckle NA PE1 5 +NX_Q9P2N6 904 95992 9.46 0 Nucleus;Nucleus;Nucleus NA PE1 2 +NX_Q9P2N7 655 73868 6.17 0 NA NA PE1 X +NX_Q9P2P1 1898 208366 8.27 2 Nucleoplasm;Golgi apparatus;Cytoplasmic vesicle;Membrane NA PE1 14 +NX_Q9P2P5 1572 175769 5.26 0 Nucleolus;Cytoplasm;Spindle;Endoplasmic reticulum Neurodevelopmental disorder with hypotonia, seizures, and absent language PE1 2 +NX_Q9P2P6 4700 516343 5.91 0 Centriole;Cytosol;Nucleus;Cytoskeleton NA PE1 15 +NX_Q9P2Q2 1039 115458 8.98 0 Cytoskeleton;Adherens junction;Golgi apparatus;Nucleus;Tight junction Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia PE1 10 +NX_Q9P2R3 1169 128399 5.7 0 Endosome membrane;Endosome;Cytoplasm;Early endosome NA PE1 17 +NX_Q9P2R6 1566 172424 7.44 0 Nucleus Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart PE1 1 +NX_Q9P2R7 463 50317 7.05 0 Mitochondrion;Mitochondrion Mitochondrial DNA depletion syndrome 5 PE1 13 +NX_Q9P2S2 1712 184982 5.61 1 Nucleus;Cytosol;Membrane;Nucleus membrane NA PE1 11 +NX_Q9P2S5 460 51588 6.37 0 Cytoplasm;Centrosome;Centriole;Centriolar satellite;Nucleoplasm;Cell junction NA PE1 1 +NX_Q9P2S6 941 105516 6.28 0 Cytoplasm;Cytosol;Nucleus;Nucleus NA PE1 2 +NX_Q9P2T0 379 43444 9.17 0 Nucleus NA PE1 19 +NX_Q9P2T1 348 37874 6.8 0 Nucleolus;Nucleoplasm NA PE1 14 +NX_Q9P2U7 560 61613 7.2 12 Synaptic vesicle membrane;Membrane;Synaptosome NA PE1 19 +NX_Q9P2U8 582 64392 6.62 12 Synaptic vesicle membrane;Membrane;Synaptosome NA PE1 11 +NX_Q9P2V4 623 68041 8.9 1 Endoplasmic reticulum membrane NA PE1 10 +NX_Q9P2W1 217 24906 7.62 0 Nucleoplasm;Nucleus Ovarian dysgenesis 3 PE1 17 +NX_Q9P2W3 67 7949 5.05 0 Cell membrane NA PE1 16 +NX_Q9P2W6 132 14447 9.55 0 Cytoplasm NA PE2 11 +NX_Q9P2W7 334 38256 9.64 1 Golgi apparatus membrane;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Secreted NA PE1 11 +NX_Q9P2W9 335 38674 5.36 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane NA PE1 4 +NX_Q9P2X0 92 10094 5.66 2 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1O PE1 1 +NX_Q9P2X3 320 36476 4.86 0 Cytoplasm;Nucleoplasm NA PE1 18 +NX_Q9P2X7 70 7542 7.93 0 NA NA PE2 9 +NX_Q9P2X8 69 7854 7.77 0 NA NA PE5 9 +NX_Q9P2Y4 722 76877 9.56 0 Nucleus;Nucleus NA PE1 14 +NX_Q9P2Y5 699 78151 8.56 0 Late endosome;Lysosome;Early endosome;Endoplasmic reticulum;Centromere;Midbody NA PE1 11 +NX_Q9P2Z0 257 28351 8.95 0 Cytosol;Nucleoplasm NA PE1 15 +NX_Q9QC07 812 91948 9.21 0 NA NA PE3 1 +NX_Q9TNN7 366 40912 7.11 1 Membrane NA PE1 6 +NX_Q9TQE0 266 29826 7.67 1 Lysosome membrane;Late endosome membrane;Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane NA PE1 6 +NX_Q9UBA6 75 8344 5.78 0 NA NA PE2 6 +NX_Q9UBB4 475 53489 5.12 0 Cytoplasm;Cytosol;Cell membrane;Perinuclear region Spinocerebellar ataxia 10 PE1 22 +NX_Q9UBB5 411 43255 10.06 0 Nucleoplasm;Nucleus NA PE1 18 +NX_Q9UBB6 729 78864 5.34 0 Cytosol;Dendrite;Cytosol NA PE1 1 +NX_Q9UBB9 837 96820 5.45 0 Nucleus;Cytoplasm;Cytosol;Nucleoplasm;Nucleus NA PE1 22 +NX_Q9UBC0 465 51023 9.71 0 Nucleus NA PE1 15 +NX_Q9UBC1 381 43204 6.86 0 Nucleus Rheumatoid arthritis PE1 6 +NX_Q9UBC2 864 94255 4.93 0 Cell membrane;Nucleus;Coated pit;Cytoplasmic vesicle NA PE1 19 +NX_Q9UBC3 853 95751 8.74 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle Facioscapulohumeral muscular dystrophy 2;Immunodeficiency-centromeric instability-facial anomalies syndrome 1 PE1 20 +NX_Q9UBC5 1043 118401 9.37 0 NA NA PE1 12 +NX_Q9UBC7 116 12545 5.86 0 Secreted NA PE2 19 +NX_Q9UBC9 169 18154 8.86 0 Cytoplasm NA PE1 1 +NX_Q9UBD0 423 46742 6.63 0 Nucleus;Nucleus;Cytoplasm NA PE1 X +NX_Q9UBD3 114 12567 10.62 0 Secreted NA PE1 1 +NX_Q9UBD5 711 82254 7.54 0 Nucleus;Cytoplasm;Nucleoplasm;Nucleus NA PE1 6 +NX_Q9UBD6 479 53179 5.93 12 Apical cell membrane NA PE1 15 +NX_Q9UBD9 225 25176 8.68 0 Nucleus;Secreted;Cytoplasmic vesicle Cold-induced sweating syndrome 2 PE1 11 +NX_Q9UBE0 346 38450 5.17 0 Nucleus;Nucleus NA PE1 19 +NX_Q9UBE8 527 58283 8.35 0 Nucleus;Cytoplasm;Nucleus;Cell junction;Nucleolus NA PE1 17 +NX_Q9UBF1 373 41163 4.26 0 Cytoplasm;Cytosol;Nucleolus;Nucleus;Nucleus NA PE1 X +NX_Q9UBF2 871 97622 5.56 0 COPI-coated vesicle membrane;Cytosol;Golgi apparatus membrane NA PE1 7 +NX_Q9UBF6 113 12683 5.24 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 3 +NX_Q9UBF8 816 91379 5.86 0 Perinuclear region;Golgi apparatus;Golgi apparatus;Rough endoplasmic reticulum membrane;Endomembrane system;Mitochondrion outer membrane;Golgi apparatus membrane NA PE1 1 +NX_Q9UBF9 498 55395 9.18 0 Sarcolemma;Cytoskeleton;Z line Myopathy, myofibrillar, 3;Spheroid body myopathy;Limb-girdle muscular dystrophy 1A PE1 5 +NX_Q9UBG0 1479 166674 5.54 1 Membrane NA PE1 17 +NX_Q9UBG3 495 53533 5.73 0 Cytoplasm NA PE1 1 +NX_Q9UBG7 517 56751 7.86 0 Nucleus NA PE2 20 +NX_Q9UBH0 155 16962 5.12 0 Secreted Psoriasis 14, pustular PE1 2 +NX_Q9UBH6 696 81535 8.68 8 Endoplasmic reticulum;Golgi apparatus;Cell membrane Basal ganglia calcification, idiopathic, 6 PE1 1 +NX_Q9UBI1 195 22151 5.62 0 Cytoplasm;Nucleus NA PE1 10 +NX_Q9UBI4 398 42968 8.18 1 Cytoplasmic vesicle;Membrane;Cytosol;Late endosome membrane;Membrane raft;Cell membrane NA PE1 15 +NX_Q9UBI6 72 8006 9.14 0 Mitochondrion;Cell membrane NA PE1 1 +NX_Q9UBI9 543 58837 8.89 0 NA NA PE1 6 +NX_Q9UBJ2 740 83233 9.04 4 Peroxisome membrane NA PE1 12 +NX_Q9UBK2 798 91027 5.71 0 Nucleoplasm;Cytoplasm;Nucleus;PML body NA PE1 4 +NX_Q9UBK5 93 9489 8.63 1 Cell membrane;Cytoplasm;Membrane;Cytoplasmic vesicle NA PE1 19 +NX_Q9UBK7 228 26115 4.75 0 NA NA PE1 2 +NX_Q9UBK8 725 80410 6.05 0 Cytoskeleton;Nucleoplasm;Cytosol;Cytoplasm Homocystinuria-megaloblastic anemia, cblE complementation type;Neural tube defects, folate-sensitive PE1 5 +NX_Q9UBK9 157 18246 7.02 0 Spindle pole;Nucleus;Nucleus;Microtubule organizing center;Cytosol;Cytoplasm;Centrosome NA PE1 X +NX_Q9UBL0 812 89196 6.51 0 Cytosol;Nucleolus;Cytoplasm NA PE1 3 +NX_Q9UBL3 628 68723 5.45 0 Nucleus;Cell membrane;Nucleoplasm NA PE1 8 +NX_Q9UBL6 633 70294 5.97 0 Cell membrane;Cytoplasm;Nucleus NA PE1 16 +NX_Q9UBL9 471 51754 8.4 2 Cell membrane Deafness, autosomal dominant, 41 PE1 12 +NX_Q9UBM1 199 22134 8.89 3 Mitochondrion membrane;Endoplasmic reticulum membrane;Cytosol NA PE1 17 +NX_Q9UBM4 332 37261 5.39 0 Extracellular matrix NA PE1 1 +NX_Q9UBM7 475 54489 8.95 7 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cytosol Smith-Lemli-Opitz syndrome PE1 11 +NX_Q9UBM8 478 56061 8.28 1 Golgi apparatus membrane NA PE2 12 +NX_Q9UBN1 327 36579 9.23 4 Cytosol;Cell membrane NA PE1 17 +NX_Q9UBN4 977 112101 7.81 6 Membrane;Cell membrane NA PE1 13 +NX_Q9UBN6 386 41823 6.19 1 Cytoskeleton;Cell membrane;Membrane NA PE1 8 +NX_Q9UBN7 1215 131419 5.14 0 Cytoplasm;Perikaryon;Dendrite;Nucleoplasm;Nucleus;Axon Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia PE1 X +NX_Q9UBP0 616 67197 9.67 0 Nucleoplasm;Cytosol;Endosome;Lipid droplet;Endoplasmic reticulum;Membrane;Midbody;Centrosome;Cytoskeleton;Perinuclear region;Nucleus;Spindle;Cytoplasm;Endoplasmic reticulum membrane;Nucleus membrane Spastic paraplegia 4, autosomal dominant PE1 2 +NX_Q9UBP4 350 38390 4.59 0 Cytoplasmic vesicle;Secreted NA PE1 11 +NX_Q9UBP5 337 35808 8.31 0 Nucleus;Nucleus NA PE1 6 +NX_Q9UBP6 276 31471 7.19 0 Nucleus;Nucleus NA PE1 12 +NX_Q9UBP8 84 8969 9.51 0 NA NA PE2 6 +NX_Q9UBP9 304 34490 8.04 0 Cytoplasm;Cytoplasmic vesicle NA PE1 2 +NX_Q9UBQ0 182 20506 6.29 0 Endosome;Cytoplasm;Lysosome;Cytosol;Cytoplasmic vesicle;Early endosome;Late endosome;Cytoplasm;Membrane;Endosome membrane NA PE1 12 +NX_Q9UBQ5 218 25060 4.81 0 Nucleus;Nucleus;Cytosol;Cytoplasm NA PE1 19 +NX_Q9UBQ6 330 37466 9.08 1 Secreted;Nucleus;Cytosol;Endoplasmic reticulum membrane NA PE1 1 +NX_Q9UBQ7 328 35668 7.01 0 Cytosol;Nucleoplasm Hyperoxaluria primary 2 PE1 9 +NX_Q9UBR1 384 43166 6.09 0 Cytoplasm Beta-ureidopropionase deficiency PE1 22 +NX_Q9UBR2 303 33868 6.7 0 Endoplasmic reticulum;Lysosome;Cytoplasmic vesicle NA PE1 20 +NX_Q9UBR4 397 43358 8.47 0 Nucleus Pituitary hormone deficiency, combined, 3 PE1 9 +NX_Q9UBR5 152 17170 9.41 3 Secreted;Cytoplasmic vesicle;Membrane NA PE1 16 +NX_Q9UBS0 482 53455 6.91 0 Cytosol;Cytoplasm;Nucleus NA PE1 11 +NX_Q9UBS3 223 25518 8.37 0 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum;Endoplasmic reticulum lumen NA PE1 7 +NX_Q9UBS4 358 40514 5.81 0 Endoplasmic reticulum lumen;Endoplasmic reticulum NA PE1 3 +NX_Q9UBS5 961 108320 8.49 7 Dendrite;Secreted;Centrosome;Postsynaptic cell membrane;Cell membrane NA PE1 6 +NX_Q9UBS8 474 53837 4.66 0 Cytosol;Nucleus;Cytoplasm NA PE1 5 +NX_Q9UBS9 1254 139430 4.93 1 Nucleolus;Cytosol;Rough endoplasmic reticulum membrane NA PE1 1 +NX_Q9UBT2 640 71224 5.15 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 19 +NX_Q9UBT3 224 24876 8.81 0 Secreted NA PE1 8 +NX_Q9UBT6 870 98809 8.42 0 Nucleus;Nucleoplasm;Nucleus NA PE1 5 +NX_Q9UBT7 734 81896 6.22 0 Cell membrane;Cytoskeleton NA PE1 9 +NX_Q9UBU2 259 28447 9.34 0 Secreted;Golgi apparatus NA PE1 4 +NX_Q9UBU3 117 12911 5.35 0 Secreted NA PE1 3 +NX_Q9UBU6 413 44123 6.76 3 Membrane;Golgi apparatus NA PE1 6 +NX_Q9UBU7 674 76858 8.03 0 Nucleus;Nucleus NA PE1 7 +NX_Q9UBU8 362 41474 9.29 0 Nucleus speckle;Nucleus NA PE1 15 +NX_Q9UBU9 619 70182 8.74 0 Nucleoplasm;Nucleus speckle;Nucleoplasm;Cytoplasm;Nucleus NA PE1 11 +NX_Q9UBV2 794 88755 5.23 1 Endoplasmic reticulum membrane NA PE1 14 +NX_Q9UBV4 365 40690 8.97 0 Extracellular matrix NA PE1 7 +NX_Q9UBV7 327 37406 9.18 1 Golgi stack membrane Ehlers-Danlos syndrome with short stature and limb anomalies PE1 5 +NX_Q9UBV8 284 30381 6.1 0 Cytoplasm;Endoplasmic reticulum;Membrane;COPII-coated vesicle membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA PE1 1 +NX_Q9UBW5 565 61874 5.11 0 Cytoplasm;Podosome membrane;Cell cortex;Phagocytic cup NA PE1 12 +NX_Q9UBW7 1377 154911 5.95 0 Nucleus;Nucleoplasm;Nucleus;Endoplasmic reticulum NA PE1 13 +NX_Q9UBW8 275 30277 8.33 0 Cytoplasm;Nucleus;Nucleoplasm NA PE1 12 +NX_Q9UBX0 185 21409 9.01 0 Nucleus;Nucleus Pituitary hormone deficiency, combined, 5;Septooptic dysplasia;Growth hormone deficiency with pituitary anomalies PE1 3 +NX_Q9UBX1 484 53366 8.52 0 Cytosol;Lysosome;Cytoplasmic vesicle;Cell membrane Ceroid lipofuscinosis, neuronal, 13 PE1 11 +NX_Q9UBX2 424 44940 8.72 0 Nucleus Facioscapulohumeral muscular dystrophy 1 PE1 4 +NX_Q9UBX3 287 31282 9.62 6 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA PE1 17 +NX_Q9UBX5 448 50180 4.58 0 Cytosol;Secreted;Cell membrane;Extracellular matrix Macular degeneration, age-related, 3;Neuropathy, hereditary, with or without age-related macular degeneration;Cutis laxa, autosomal dominant, 2;Cutis laxa, autosomal recessive, 1A PE1 14 +NX_Q9UBX7 282 31059 9.23 0 Secreted;Golgi apparatus NA PE1 19 +NX_Q9UBX8 382 44914 8.59 1 Golgi stack membrane NA PE1 18 +NX_Q9UBY0 812 91520 9.2 10 Cell junction;Membrane NA PE1 2 +NX_Q9UBY5 353 40128 9.53 7 Cell membrane;Cell membrane NA PE1 1 +NX_Q9UBY8 286 32787 8.47 5 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant;Ceroid lipofuscinosis, neuronal, 8 PE1 8 +NX_Q9UBY9 170 18611 6.04 0 Nucleoplasm;Cytoplasm;Nucleus;Cajal body NA PE1 1 +NX_Q9UBZ4 518 57401 8.65 0 Nucleolus;Cytoplasmic vesicle;Mitochondrion;Nucleus;Nucleus;Cytoplasm NA PE1 X +NX_Q9UBZ9 1251 138248 8.76 0 Nucleus;Cytosol NA PE1 2 +NX_Q9UC06 446 50802 8.68 0 Nucleus;Cytosol NA PE1 22 +NX_Q9UC07 566 65761 9.13 0 Nucleus NA PE1 19 +NX_Q9UD57 310 32381 9.7 0 Nucleus NA PE1 10 +NX_Q9UD71 204 22963 4.48 0 Cytoplasm NA PE1 17 +NX_Q9UDR5 926 102132 6.18 0 Mitochondrion;Cytoplasmic vesicle;Mitochondrion Hyperlysinemia, 1;2,4-dienoyl-CoA reductase deficiency PE1 7 +NX_Q9UDT6 1046 115837 6.29 0 Cytoplasm;Cytoskeleton NA PE1 7 +NX_Q9UDV6 495 55447 6.97 0 Nucleus;Nucleus NA PE1 7 +NX_Q9UDV7 671 74295 5.62 0 Cytosol;Nucleus;Nucleoplasm NA PE1 7 +NX_Q9UDW1 63 7308 9.45 0 Mitochondrion inner membrane NA PE1 22 +NX_Q9UDW3 170 19971 8.85 0 Nucleus;Nucleoplasm NA PE1 22 +NX_Q9UDX3 406 46644 6.16 0 Centrosome NA PE1 22 +NX_Q9UDX4 400 46048 5.79 0 NA NA PE1 22 +NX_Q9UDX5 166 18010 9.33 3 Mitochondrion inner membrane;Mitochondrion NA PE1 22 +NX_Q9UDY2 1190 133958 6.96 0 Cytosol;Cell membrane;Cell junction;Adherens junction;Cell membrane;Tight junction;Nucleus Cholestasis, progressive familial intrahepatic, 4;Familial hypercholanemia PE1 9 +NX_Q9UDY4 337 37807 8.65 0 Cytoplasm;Cytosol;Nucleoplasm;Cell membrane;Cell membrane NA PE1 1 +NX_Q9UDY6 481 55037 5.69 0 Cytoplasm NA PE1 6 +NX_Q9UDY8 824 92272 5.47 0 Cytosol;Perinuclear region;Nucleus;Nucleolus Immunodeficiency 12 PE1 18 +NX_Q9UEE5 414 46558 5.08 0 Nucleus;Nucleus speckle;Cell membrane NA PE1 7 +NX_Q9UEE9 299 33593 4.77 0 Nucleoplasm;Kinetochore NA PE1 16 +NX_Q9UEF7 1012 116181 8.06 1 Cell membrane;Apical cell membrane;Secreted;Secreted Tumoral calcinosis, hyperphosphatemic, familial PE1 13 +NX_Q9UEG4 869 96620 8.24 0 Nucleus;Nucleus;Golgi apparatus NA PE1 16 +NX_Q9UER7 740 81373 4.8 0 Nucleus;Nucleoplasm;PML body;Nucleolus;Centromere;Nucleus;Cytoplasm;Nucleus NA PE1 6 +NX_Q9UET6 329 36079 5.42 0 Cytoplasm;Cytosol Mental retardation, X-linked 44 PE1 X +NX_Q9UEU0 232 26688 9.02 1 Lysosome membrane;Late endosome membrane;Early endosome membrane;Cytoplasmic vesicle;Recycling endosome membrane;Cytoplasmic granule;Golgi apparatus NA PE1 14 +NX_Q9UEU5 116 12764 4.23 0 NA NA PE1 X +NX_Q9UEW3 520 52658 8.95 1 Cytoplasmic vesicle;Golgi apparatus;Cell membrane NA PE1 2 +NX_Q9UEW8 545 59474 5.92 0 Nucleus;Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA PE1 2 +NX_Q9UEY8 706 79155 5.92 0 Cell membrane;Cell membrane;Cytoskeleton Cerebral palsy, spastic quadriplegic 3 PE1 10 +NX_Q9UF02 275 30903 6.94 4 Postsynaptic density;Membrane NA PE2 17 +NX_Q9UF11 243 27186 7 0 Cytoplasm;Membrane NA PE1 11 +NX_Q9UF12 536 58871 8.94 0 Nucleoplasm;Cytosol NA PE1 19 +NX_Q9UF33 1036 116379 6.55 1 Membrane;Nucleoplasm NA PE1 3 +NX_Q9UF47 199 22496 5.16 0 Membrane NA PE1 8 +NX_Q9UF56 701 75695 8.49 0 Nucleus NA PE1 5 +NX_Q9UF72 201 20603 5.93 0 Secreted NA PE5 1 +NX_Q9UF83 564 59412 13.06 0 NA NA PE1 13 +NX_Q9UFB7 747 82760 5.52 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q9UFC0 647 70861 6.88 0 Cytosol;Nucleus;Centromere;Telomere;Centrosome;Kinetochore;Nucleus NA PE1 7 +NX_Q9UFD9 1639 180717 6.46 0 Cytoskeleton NA PE1 22 +NX_Q9UFE4 941 109901 6.1 0 Mitochondrion;Cilium axoneme Ciliary dyskinesia, primary, 14 PE1 3 +NX_Q9UFF9 292 33540 4.69 0 Nucleus;Cytoplasm;Cytoplasm;Nucleus NA PE1 5 +NX_Q9UFG5 118 12878 5.03 0 Cytoskeleton NA PE1 19 +NX_Q9UFH2 4485 511787 5.56 0 Cilium axoneme NA PE1 17 +NX_Q9UFN0 247 28467 9.21 0 Cytosol NA PE1 9 +NX_Q9UFP1 575 63637 7.1 0 Cytoplasmic vesicle;Secreted NA PE1 3 +NX_Q9UFV1 150 16280 9.33 0 NA NA PE2 17 +NX_Q9UFV3 132 14889 10.08 0 NA NA PE5 15 +NX_Q9UFW8 167 18820 9.14 0 Nucleus;Nucleus;Nucleus NA PE1 3 +NX_Q9UG01 1749 197576 5.78 0 Cilium;Cytoplasmic vesicle Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71 PE1 2 +NX_Q9UG22 337 38017 8.6 2 Membrane;Cytoplasm;Lipid droplet NA PE1 7 +NX_Q9UG56 409 46672 9.51 1 Mitochondrion inner membrane;Mitochondrion inner membrane;Cytosol;Golgi apparatus NA PE1 22 +NX_Q9UG63 623 71290 6.95 0 Cytosol NA PE1 7 +NX_Q9UGB4 50 5874 4.33 0 NA NA PE4 20 +NX_Q9UGB7 285 33010 5.5 0 Cytoplasm NA PE1 22 +NX_Q9UGC6 210 24359 5.56 0 Membrane;Synaptosome;Nucleus;Cytoplasmic vesicle;Cytoplasm NA PE1 6 +NX_Q9UGC7 380 43600 8.36 0 Mitochondrion NA PE1 6 +NX_Q9UGF5 321 35892 8.9 7 Cell membrane NA PE2 6 +NX_Q9UGF6 321 36057 8.79 7 Cell membrane NA PE2 6 +NX_Q9UGF7 316 35791 8.86 7 Cell membrane NA PE2 6 +NX_Q9UGH3 650 70337 7.83 12 Golgi apparatus;Cytoplasmic vesicle;Cell membrane NA PE1 20 +NX_Q9UGI0 708 80967 5.48 0 Cytosol;Nucleus;Cytoplasm;Nucleoplasm NA PE1 10 +NX_Q9UGI6 736 82026 9.12 6 Membrane;Nucleoplasm NA PE1 1 +NX_Q9UGI8 421 47996 7.96 0 Focal adhesion;Cytoplasm;Cell membrane;Cell junction;Cytosol;Focal adhesion NA PE1 7 +NX_Q9UGI9 489 54258 5.59 0 NA NA PE1 2 +NX_Q9UGJ0 569 63066 9.37 0 Nucleoplasm Cardiomyopathy, familial hypertrophic 6;Wolff-Parkinson-White syndrome;Glycogen storage disease of heart lethal congenital PE1 7 +NX_Q9UGJ1 667 76089 6.17 0 Centrosome;Centrosome Microcephaly and chorioretinopathy, autosomal recessive, 3 PE1 15 +NX_Q9UGK3 403 44894 8.34 0 Cytoplasm NA PE1 19 +NX_Q9UGK8 458 48981 6.01 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm;Cytoplasmic vesicle NA PE1 11 +NX_Q9UGL1 1544 175658 6.29 0 Nucleus;Nucleus NA PE1 1 +NX_Q9UGL9 99 9736 9.13 0 NA NA PE1 1 +NX_Q9UGM1 479 54807 6.04 4 Postsynaptic cell membrane;Cell membrane NA PE1 4 +NX_Q9UGM3 2413 260735 5.18 0 Secreted Glioma PE1 10 +NX_Q9UGM5 382 42055 6.46 0 Secreted NA PE1 3 +NX_Q9UGM6 360 40147 9.31 0 Mitochondrion;Mitochondrion matrix;Cell membrane NA PE1 1 +NX_Q9UGN4 299 33201 5.35 1 Cell membrane NA PE1 17 +NX_Q9UGN5 583 66206 9.02 0 Nucleus;Nucleus;Nucleolus NA PE1 14 +NX_Q9UGP4 676 72190 6.2 0 Focal adhesion;Cytoplasm;Nucleus;P-body;Adherens junction;Focal adhesion;Nucleus NA PE1 3 +NX_Q9UGP5 575 63482 7.96 0 Nucleus;Golgi apparatus;Nucleus NA PE1 10 +NX_Q9UGP8 760 87997 5.21 3 Endoplasmic reticulum;Endoplasmic reticulum membrane Polycystic liver disease 2 PE1 6 +NX_Q9UGQ2 172 18470 5.37 3 Membrane;Nucleoplasm NA PE1 9 +NX_Q9UGQ3 507 54539 8.9 12 Cell membrane NA PE1 9 +NX_Q9UGR2 993 111578 6.82 0 Cytosol;Nucleus NA PE1 22 +NX_Q9UGT4 822 90208 5.84 1 Cell membrane;Cell membrane NA PE1 22 +NX_Q9UGU0 1960 211771 9.16 0 Nucleus;Nucleus;Nucleoplasm NA PE1 22 +NX_Q9UGU5 601 65712 9.35 0 Nucleus;Nucleus NA PE1 22 +NX_Q9UGV2 375 41409 5.12 0 NA NA PE1 20 +NX_Q9UGY1 213 24663 10.22 0 Nucleus;Nucleolus;Cytoplasmic vesicle;Nucleolus NA PE1 22 +NX_Q9UH03 358 40704 6.74 0 Cytoskeleton;Cytoskeleton;Nucleoplasm;Cytoplasm;Cytoskeleton;Synapse;Cell membrane NA PE1 22 +NX_Q9UH17 382 45924 5.74 0 Nucleus NA PE1 22 +NX_Q9UH36 339 38573 5.31 0 Cytosol NA PE1 22 +NX_Q9UH62 379 42501 8.6 1 Cytosol;Mitochondrion outer membrane;Nucleoplasm;Golgi apparatus;Cytoplasm;Nucleus NA PE1 X +NX_Q9UH64 79 8851 11.58 0 NA NA PE4 9 +NX_Q9UH65 585 68998 5.66 0 Cytoplasm;Cell membrane;Cytoskeleton;Lamellipodium;Nucleus NA PE1 11 +NX_Q9UH73 591 64464 9 0 Nucleus NA PE1 5 +NX_Q9UH77 587 64970 5.29 0 Cytoskeleton;Cytosol Pseudohypoaldosteronism 2D PE1 5 +NX_Q9UH90 709 79782 6.69 0 Cytoplasm NA PE1 3 +NX_Q9UH92 298 33300 8.18 0 Cytoplasm;Nucleus membrane;Nucleus;Nucleoplasm;Cytosol NA PE1 17 +NX_Q9UH99 717 80311 6.27 1 Nucleus envelope;Nucleus inner membrane;Nucleus envelope;Nucleus membrane;Endosome membrane NA PE1 22 +NX_Q9UHA2 77 8835 5.62 0 Mitochondrion;Nucleus;Nucleolus NA PE1 3 +NX_Q9UHA3 163 19621 9.99 0 Nucleolus;Nucleolus;Nucleus NA PE1 15 +NX_Q9UHA4 124 13623 6.72 0 Late endosome membrane NA PE1 4 +NX_Q9UHA7 158 17684 5.89 0 Secreted NA PE1 2 +NX_Q9UHB4 597 66763 5.95 0 Cytosol;Perinuclear region;Nucleus;Cytoskeleton NA PE1 9 +NX_Q9UHB6 759 85226 6.41 0 Cytoplasm;Cytoplasm;Cytosol;Cytoskeleton;Focal adhesion;Focal adhesion;Cytoskeleton;Cell membrane;Cytoskeleton NA PE1 12 +NX_Q9UHB7 1163 127459 9.33 0 Nucleus;Nucleolus;Nucleus CHOPS syndrome PE1 5 +NX_Q9UHB9 627 70730 8.75 0 Focal adhesion;Cytoplasm;Nucleolus;Cytosol NA PE1 17 +NX_Q9UHC1 1453 163711 6.33 0 Nucleus;Nucleus Colorectal cancer;Hereditary non-polyposis colorectal cancer 7 PE1 14 +NX_Q9UHC3 531 58905 6.73 2 Cell membrane;Nucleoplasm;Cytosol;Cytoplasm NA PE1 7 +NX_Q9UHC6 1331 148167 6.12 1 Axon;Membrane;Paranodal septate junction Cortical dysplasia-focal epilepsy syndrome;Autism 15 PE1 7 +NX_Q9UHC7 482 53349 5.05 0 NA NA PE1 7 +NX_Q9UHC9 1359 148728 5.95 13 Apical cell membrane;Cell membrane;Cytoplasmic vesicle membrane NA PE1 7 +NX_Q9UHD0 177 20452 7.62 0 Secreted NA PE1 1 +NX_Q9UHD1 332 37490 8.1 0 Cytoplasm;Cytosol NA PE1 11 +NX_Q9UHD2 729 83642 6.32 0 Nucleoplasm;Cytoplasm Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;Glaucoma 1, open angle, P PE1 12 +NX_Q9UHD4 219 24678 9.01 0 NA NA PE1 14 +NX_Q9UHD8 586 65401 9.06 0 Cytoskeleton;Cytoskeleton Hereditary neuralgic amyotrophy PE1 17 +NX_Q9UHD9 624 65696 5.15 0 Membrane;Cytosol;Cell membrane;Autophagosome;Cytoplasm;Nucleus Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia PE1 X +NX_Q9UHE5 227 25619 9.08 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane NA PE1 2 +NX_Q9UHE8 339 39851 9.28 6 Endosome membrane NA PE1 7 +NX_Q9UHF0 121 13438 6.74 0 Secreted Hypogonadotropic hypogonadism 10 with or without anosmia PE1 12 +NX_Q9UHF1 273 29618 8.58 0 Extracellular space NA PE1 9 +NX_Q9UHF3 227 25366 9.39 1 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE5 2 +NX_Q9UHF4 553 62485 4.78 1 Membrane;Cytosol NA PE1 6 +NX_Q9UHF5 180 20437 9.46 0 Secreted NA PE1 5 +NX_Q9UHF7 1281 141521 7.53 0 Nucleoplasm;Nucleus Tricho-rhino-phalangeal syndrome 1;Tricho-rhino-phalangeal syndrome 2;Tricho-rhino-phalangeal syndrome 3 PE1 8 +NX_Q9UHG0 476 52834 5.84 0 Cytosol;Cilium;Cilium axoneme;Cytoskeleton;Nucleus;Kinocilium Dyslexia 2;Deafness, autosomal recessive, 66;Sclerosing cholangitis, neonatal;Nephronophthisis 19 PE1 6 +NX_Q9UHG2 260 27372 6.22 0 Secreted;trans-Golgi network;Cytoplasmic vesicle NA PE1 X +NX_Q9UHG3 505 56640 5.8 0 Lysosome NA PE1 2 +NX_Q9UHH9 426 49186 6.37 0 Nucleus;Nucleus;Cytoskeleton NA PE1 3 +NX_Q9UHI5 535 58382 5.69 12 Cytoplasm;Basolateral cell membrane NA PE1 14 +NX_Q9UHI6 824 92241 6.49 0 Gem;Cytoplasm;Nucleus;Nucleus;Cytosol NA PE1 1 +NX_Q9UHI7 598 64831 6.16 12 Cell membrane NA PE1 5 +NX_Q9UHI8 967 105358 6.4 0 Extracellular matrix;Cytosol NA PE1 21 +NX_Q9UHJ3 866 98141 5.86 0 Nucleus;Nucleoplasm NA PE1 3 +NX_Q9UHJ6 478 51491 6.35 0 Nucleus speckle;Nucleoplasm;Cytoplasm Sedoheptulokinase deficiency PE1 17 +NX_Q9UHJ9 254 29400 8.47 5 Cytoskeleton;Golgi apparatus membrane;Endoplasmic reticulum membrane Hyperphosphatasia with mental retardation syndrome 3 PE1 11 +NX_Q9UHK0 495 56300 9.21 0 Nucleus;Nucleolus;Nucleus NA PE1 13 +NX_Q9UHK6 382 42387 6.07 0 Cell membrane;Mitochondrion;Peroxisome;Cytoplasmic vesicle Congenital bile acid synthesis defect 4;Alpha-methylacyl-CoA racemase deficiency PE1 5 +NX_Q9UHL0 483 54692 5.89 0 Cytoplasm;Nucleus NA PE1 11 +NX_Q9UHL3 310 34712 4.68 0 NA NA PE2 5 +NX_Q9UHL4 492 54341 5.91 0 Cytoplasmic vesicle;Golgi apparatus;Lysosome;Cytoplasmic vesicle;Secreted NA PE1 9 +NX_Q9UHL9 959 106057 6.45 0 Nucleoplasm;Cytosol;Nucleus NA PE1 7 +NX_Q9UHM6 478 52635 9.35 7 Cell membrane NA PE1 10 +NX_Q9UHN1 485 54911 8.64 0 Nucleus;Mitochondrion;Mitochondrion Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 PE1 17 +NX_Q9UHN6 1383 154374 8.41 1 Cytoplasmic vesicle;Cytosol;Cell membrane NA PE1 9 +NX_Q9UHP3 1055 122218 5.22 0 Cytosol;Cytoplasm;Nucleus NA PE1 21 +NX_Q9UHP6 348 38592 6.43 0 Nucleolus NA PE1 22 +NX_Q9UHP7 191 21849 6.37 1 Nucleoplasm;Cell membrane;Golgi apparatus;Endoplasmic reticulum NA PE1 12 +NX_Q9UHP9 88 9559 9.21 0 NA Deafness, X-linked, 4 PE1 X +NX_Q9UHQ1 456 51156 6.63 0 Nucleolus;Nucleus;Nucleus NA PE1 17 +NX_Q9UHQ4 241 28320 9.55 3 Endoplasmic reticulum membrane;Cytosol NA PE1 7 +NX_Q9UHQ7 104 12749 5.35 0 Cytosol;Nucleoplasm;Nucleus NA PE1 X +NX_Q9UHQ9 305 34095 9.41 1 Cytosol;Mitochondrion;Membrane;Nucleolus NA PE1 1 +NX_Q9UHR4 511 56883 8.82 0 Cytoskeleton;Cell membrane;Cytosol NA PE1 7 +NX_Q9UHR5 308 33870 4.74 0 Nucleus;Cytoplasm;Nucleoplasm;Nucleus NA PE1 17 +NX_Q9UHR6 403 42884 5.69 0 NA NA PE1 11 +NX_Q9UHT4 67 8314 10.1 0 NA NA PE5 7 +NX_Q9UHU1 43 4899 8.16 0 NA NA PE5 11 +NX_Q9UHV2 236 24704 4.29 0 Nucleoplasm;Golgi apparatus NA PE1 19 +NX_Q9UHV5 662 73265 5.94 0 Cytoskeleton;Nucleus;Cytoskeleton NA PE1 17 +NX_Q9UHV7 2174 239297 5.4 0 Nucleus;Nucleus NA PE1 17 +NX_Q9UHV8 139 16119 5.43 0 NA NA PE1 19 +NX_Q9UHV9 154 16648 6.2 0 Cytoplasm;Nucleus;Cytoplasm;Mitochondrion;Cytosol NA PE1 1 +NX_Q9UHW5 284 32761 4.38 0 Cytosol;Nucleus speckle NA PE1 12 +NX_Q9UHW9 1150 127617 6.64 12 Cytosol;Cytoplasmic vesicle;Basolateral cell membrane Agenesis of the corpus callosum, with peripheral neuropathy PE1 15 +NX_Q9UHX1 559 59875 5.19 0 Nucleus;Cytoplasm;Nucleoplasm;Nucleus Verheij syndrome PE1 8 +NX_Q9UHX3 823 90472 6.47 7 Cell membrane;Ruffle membrane;Cytoplasmic vesicle Vibratory urticaria PE1 19 +NX_Q9UHY1 535 59845 5.02 0 Cell cortex;Endomembrane system;Lamellipodium;Cytosol NA PE1 2 +NX_Q9UHY7 261 28933 4.66 0 Nucleus;Cytoplasm;Nucleus;Nucleoplasm NA PE1 4 +NX_Q9UHY8 353 39666 4.52 0 Cytosol;Nucleolus;Golgi apparatus NA PE1 2 +NX_Q9UI08 416 44620 8.91 0 Cytoskeleton;Lamellipodium;Cytoplasmic vesicle;Cytosol NA PE1 14 +NX_Q9UI09 145 17114 9.63 0 Mitochondrion inner membrane;Mitochondrion Leigh syndrome PE1 12 +NX_Q9UI10 523 57557 9.45 0 Cytoskeleton;Nucleus membrane Leukodystrophy with vanishing white matter PE1 2 +NX_Q9UI12 483 55883 6.07 0 Cytosol;Cytoskeleton NA PE1 8 +NX_Q9UI14 185 20648 6.83 4 Nucleolus;Cell membrane;Cytoplasm;Golgi apparatus;Synaptic vesicle;Nucleus membrane NA PE1 19 +NX_Q9UI15 199 22473 6.84 0 NA NA PE1 3 +NX_Q9UI17 866 96811 7.31 0 Mitochondrion;Mitochondrion DMGDH deficiency PE1 5 +NX_Q9UI25 63 6971 6.23 0 NA NA PE5 16 +NX_Q9UI26 975 112535 5.14 0 Cytoplasm;Nucleus;Nucleus;Nucleolus NA PE1 5 +NX_Q9UI30 125 14199 5.21 0 Nucleus;Nucleoplasm;Perinuclear region;Cytoskeleton NA PE1 11 +NX_Q9UI32 602 66323 6.9 0 Mitochondrion NA PE1 12 +NX_Q9UI33 1791 204922 8.32 24 Cell membrane Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, 7 PE1 3 +NX_Q9UI36 760 78676 8.75 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA PE1 13 +NX_Q9UI38 385 43088 8.58 0 Endoplasmic reticulum NA PE1 3 +NX_Q9UI40 661 73664 5.71 11 Membrane NA PE1 9 +NX_Q9UI42 421 47351 6.23 0 Secreted;Cytosol;Nucleoplasm;Centrosome NA PE1 7 +NX_Q9UI43 246 27424 9.6 0 Mitochondrion NA PE1 7 +NX_Q9UI46 699 79283 6.4 0 Cilium axoneme Ciliary dyskinesia, primary, 1;Kartagener syndrome PE1 9 +NX_Q9UI47 895 99809 5.83 0 Cytoskeleton Arrhythmogenic right ventricular dysplasia, familial, 13 PE1 10 +NX_Q9UI54 55 6387 10.3 0 NA NA PE5 20 +NX_Q9UI72 69 8249 9.35 0 NA NA PE5 5 +NX_Q9UI95 211 24334 6.05 0 Nucleolus;Cytosol;Nucleus;Spindle;Cytoplasm Fanconi anemia, complementation group V PE1 1 +NX_Q9UIA0 394 45672 6.08 0 Cell membrane NA PE1 22 +NX_Q9UIA9 1087 123907 5.91 0 Nucleus;Cytoplasm;Nucleus;Nuclear pore complex NA PE1 8 +NX_Q9UIB8 345 38782 6.61 1 Cell membrane NA PE1 1 +NX_Q9UIC8 334 38379 5.73 0 Cytosol;Nucleoplasm NA PE1 16 +NX_Q9UID3 782 86042 6.06 0 Nucleolus;Cytoplasmic vesicle;Golgi apparatus;trans-Golgi network;Recycling endosome NA PE1 11 +NX_Q9UID6 485 56054 5.3 0 Nucleus;Nucleoplasm NA PE1 3 +NX_Q9UIE0 474 54542 8.75 0 Mitochondrion;Nucleus NA PE1 19 +NX_Q9UIF3 430 49672 5.39 0 Microtubule organizing center;Flagellum axoneme;Cilium axoneme;Cytoskeleton NA PE1 1 +NX_Q9UIF7 546 60069 8.99 0 Mitochondrion;Nucleus;Nucleus Familial adenomatous polyposis 2;Gastric cancer PE1 1 +NX_Q9UIF8 2168 240459 6.13 0 Nucleoplasm;Cytosol;Nucleus NA PE1 2 +NX_Q9UIF9 1905 211198 6.22 0 Nucleolus;Nucleus speckle NA PE1 12 +NX_Q9UIG0 1483 170903 8.7 0 Nucleus;Nucleus NA PE1 7 +NX_Q9UIG4 136 15101 4.48 0 Secreted NA PE1 6 +NX_Q9UIG5 152 16580 5.93 0 Nucleus NA PE2 6 +NX_Q9UIG8 710 76553 6.34 12 Cell membrane NA PE1 15 +NX_Q9UIH9 416 43992 8.48 0 Nucleus NA PE1 3 +NX_Q9UII2 106 12249 9.34 0 Mitochondrion;Mitochondrion NA PE1 1 +NX_Q9UII4 1024 116852 7.71 0 Perinuclear region NA PE1 4 +NX_Q9UII5 783 90673 9.43 0 Nucleus NA PE1 7 +NX_Q9UII6 198 22149 9.27 0 NA NA PE1 10 +NX_Q9UIJ5 367 42022 8.7 4 Membrane NA PE1 8 +NX_Q9UIJ7 227 25565 9.15 0 Mitochondrion;Mitochondrion matrix NA PE1 9 +NX_Q9UIK4 370 42898 6.45 0 Cytoplasmic vesicle;Golgi apparatus;Cytoplasm;Autophagosome lumen NA PE1 15 +NX_Q9UIK5 374 41428 5.01 1 Cytoskeleton;Cytoskeleton;Membrane;Secreted NA PE1 2 +NX_Q9UIL1 159 18045 9 0 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus;trans-Golgi network;Cytosol NA PE1 4 +NX_Q9UIL4 384 40686 8.61 0 Centrosome NA PE2 6 +NX_Q9UIL8 331 37582 7.87 0 Nucleus;Nucleus membrane;Nucleoplasm NA PE1 13 +NX_Q9UIM3 349 38176 5.38 0 Nucleoplasm NA PE1 6 +NX_Q9UIQ6 1025 117349 5.5 1 Cell membrane;Secreted NA PE1 5 +NX_Q9UIR0 455 50436 4.96 1 Membrane Sarcoidosis 2 PE2 6 +NX_Q9UIS9 605 66607 9.32 0 Nucleus;Nucleus;Nucleus matrix;Nucleus speckle;Chromosome NA PE1 18 +NX_Q9UIU6 781 82933 5.45 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 14 +NX_Q9UIV1 285 32745 4.77 0 P-body;Nucleus;Nucleus NA PE1 8 +NX_Q9UIV8 391 44276 5.48 0 Nucleus speckle;Cytoplasm;Cytosol NA PE1 18 +NX_Q9UIW0 290 30874 9.56 0 Nucleus;Nucleus speckle NA PE1 2 +NX_Q9UIW2 1896 211067 6.49 1 Cytosol;Cell membrane;Nucleus NA PE1 3 +NX_Q9UIX4 513 57913 5.94 6 Cytoplasmic vesicle;Cell membrane NA PE1 20 +NX_Q9UIY3 292 33893 6.01 0 Cytoplasmic vesicle NA PE1 6 +NX_Q9UJ04 414 45126 8.8 0 NA NA PE1 6 +NX_Q9UJ14 662 70467 4.96 1 Nucleus;Cytoplasmic vesicle;Membrane NA PE1 20 +NX_Q9UJ37 374 41939 9.38 1 Golgi apparatus membrane NA PE1 17 +NX_Q9UJ41 708 79371 6.42 0 Cytoplasm;Early endosome;Recycling endosome;Cytosol;Nucleolus NA PE1 7 +NX_Q9UJ42 338 39787 8.84 7 Cell membrane;Cell membrane NA PE2 3 +NX_Q9UJ55 1249 132822 9.55 0 Early endosome;Cytoplasm;Nucleus Schaaf-Yang syndrome PE1 15 +NX_Q9UJ68 235 26132 8.22 0 Cell membrane;Cytosol;Mitochondrion;Nucleoplasm;Nucleus;Cytoplasm;Membrane NA PE1 8 +NX_Q9UJ70 344 37376 5.82 0 Cytosol;Nucleus NA PE1 2 +NX_Q9UJ71 328 36725 8.45 1 Membrane;Cytosol Birbeck granule deficiency PE1 2 +NX_Q9UJ72 324 37278 5.13 0 Nucleolus;Nucleus;Cytoplasmic vesicle NA PE1 4 +NX_Q9UJ78 669 74817 8.5 0 Nucleus NA PE1 13 +NX_Q9UJ83 578 63729 7.08 0 Cytoplasmic vesicle;Peroxisome NA PE1 3 +NX_Q9UJ90 142 14993 5.9 1 Cytosol;Membrane Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis PE1 X +NX_Q9UJ94 153 16537 6.04 0 NA NA PE5 21 +NX_Q9UJ96 466 51240 9.33 6 Membrane NA PE1 18 +NX_Q9UJ98 1225 139034 5.23 0 Nucleus;Centromere;Chromosome Premature ovarian failure 8 PE1 7 +NX_Q9UJ99 828 89091 4.62 1 Cell membrane NA PE1 20 +NX_Q9UJA2 301 32593 9.73 5 Mitochondrion inner membrane NA PE1 20 +NX_Q9UJA3 840 93697 7.82 0 Nucleus;Nucleus Premature ovarian failure 10 PE1 20 +NX_Q9UJA5 497 55799 7.18 0 Nucleus;Nucleus NA PE1 20 +NX_Q9UJA9 477 54666 5.94 1 Secreted;Membrane NA PE1 6 +NX_Q9UJC3 728 84648 5.09 0 Cytoskeleton;Cytoplasm NA PE1 1 +NX_Q9UJC5 107 12326 6.3 0 Nucleoplasm;Nucleus NA PE1 6 +NX_Q9UJD0 308 32796 9.38 0 Nucleolus;Synapse;Mitochondrion NA PE1 1 +NX_Q9UJF2 1139 128558 8.52 0 Focal adhesion;Cell membrane NA PE1 1 +NX_Q9UJG1 213 24086 7.66 2 Nucleoplasm;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE1 X +NX_Q9UJH8 293 31207 8.47 0 Secreted;Nucleoplasm;Cytosol;Nucleus membrane NA PE1 16 +NX_Q9UJJ7 312 34756 6.6 0 Golgi apparatus;Cell junction;Cytosol;Nucleus NA PE1 16 +NX_Q9UJJ9 305 33974 6.47 0 Cytosol;Endoplasmic reticulum;Secreted;Golgi apparatus Mucolipidosis type III complementation group C PE1 16 +NX_Q9UJK0 312 33596 6.48 0 Golgi apparatus;Cytosol NA PE1 16 +NX_Q9UJL9 534 61481 9.23 0 Cytosol;Nucleus;Nucleus NA PE1 1 +NX_Q9UJM3 462 50560 8.38 0 Cytoplasm;Cell membrane;Nucleus;Cytosol NA PE1 1 +NX_Q9UJM8 370 40924 8.2 0 Peroxisome NA PE1 20 +NX_Q9UJN7 358 40659 8.94 0 Nucleus NA PE1 6 +NX_Q9UJP4 597 66617 5.17 0 Spindle;Centrosome NA PE1 1 +NX_Q9UJQ1 280 31472 5.99 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endosome membrane;Cytoplasmic vesicle membrane;Dendrite;Growth cone membrane;Early endosome membrane;Recycling endosome;Cell membrane;Cytosol;Synaptic vesicle membrane NA PE1 20 +NX_Q9UJQ4 1053 112231 7.2 0 Nucleoplasm;Cytoplasm;Nucleus Duane-radial ray syndrome;Oculootoradial syndrome PE1 20 +NX_Q9UJQ7 156 17663 9.33 0 NA NA PE2 20 +NX_Q9UJS0 675 74176 8.79 6 Mitochondrion inner membrane;Mitochondrion Cholestasis, neonatal intrahepatic, caused by citrin deficiency;Citrullinemia 2 PE1 7 +NX_Q9UJT0 475 52932 6.17 0 Centrosome NA PE1 6 +NX_Q9UJT1 453 51034 6.35 0 Cytosol;Nucleoplasm;Centriole;Cytoplasm;Nucleus NA PE1 17 +NX_Q9UJT2 592 65050 5.7 0 Centriole NA PE1 19 +NX_Q9UJT9 491 54575 8.67 0 Centrosome NA PE1 5 +NX_Q9UJU2 399 44201 6.9 0 Nucleoplasm;Cytosol;Nucleus;Nucleus NA PE1 4 +NX_Q9UJU3 913 105842 8.6 0 Nucleus;Centrosome NA PE1 19 +NX_Q9UJU5 478 47630 6.01 0 Nucleus Autoimmune disease 1 PE1 1 +NX_Q9UJU6 430 48207 5.02 0 Cytosol;Cell projection;Cell membrane;Clathrin-coated vesicle membrane;Golgi apparatus membrane;Podosome;Early endosome;Synapse;Cytoskeleton;Lamellipodium;Ruffle;Cell cortex;Nucleoplasm;Cytosol NA PE1 7 +NX_Q9UJV3 735 83210 7.24 0 Cytoskeleton;Cytoplasm Mental retardation, X-linked 101 PE1 X +NX_Q9UJV8 347 39556 9.57 0 Nucleus;Nucleolus;Nucleus;Cell membrane NA PE1 8 +NX_Q9UJV9 622 69838 6.4 0 Nucleus;Nucleus Myeloproliferative/lymphoproliferative neoplasms, familial PE1 5 +NX_Q9UJW0 460 52337 7.1 0 Nucleus;Centrosome;Cytoskeleton;Centrosome NA PE1 5 +NX_Q9UJW2 476 54605 8.31 0 Cytoplasmic vesicle;Basement membrane NA PE1 6 +NX_Q9UJW3 386 43583 5.59 0 Nucleus;Nucleus speckle NA PE1 21 +NX_Q9UJW7 825 93707 8.88 0 Nucleus;Cell membrane;Cytoplasmic vesicle NA PE1 19 +NX_Q9UJW8 692 79111 8.04 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q9UJW9 196 21769 4.56 0 Nucleus;Nucleolus NA PE1 19 +NX_Q9UJX0 560 60849 7.01 0 Cytosol;Nucleoplasm NA PE1 16 +NX_Q9UJX2 597 68834 6.59 0 Nucleus;Cytoplasm NA PE1 5 +NX_Q9UJX3 599 66855 5.45 0 Nucleoplasm;Cytosol NA PE1 12 +NX_Q9UJX4 755 85077 6.4 0 Nucleoplasm NA PE1 12 +NX_Q9UJX5 808 92116 5.36 0 Cytoskeleton NA PE1 4 +NX_Q9UJX6 822 93828 5.12 0 Nucleoplasm NA PE1 9 +NX_Q9UJY1 196 21604 5 0 Nucleus;Cytoplasm;Cytoplasm;Cytosol;Nucleus Charcot-Marie-Tooth disease 2L;Neuronopathy, distal hereditary motor, 2A PE1 12 +NX_Q9UJY4 613 67150 6.13 0 trans-Golgi network membrane;Endosome membrane;Golgi apparatus NA PE1 16 +NX_Q9UJY5 639 70384 5.18 0 Cytoplasmic vesicle;Nucleoplasm;trans-Golgi network membrane;Endosome membrane NA PE1 22 +NX_Q9UJZ1 356 38534 6.87 0 Cytosol;Cytoskeleton;Cell membrane;Mitochondrion;Cell membrane;Mitochondrion inner membrane;Mitochondrion intermembrane space;Membrane raft NA PE1 9 +NX_Q9UK00 162 17468 5.36 1 Membrane;Cytosol NA PE2 3 +NX_Q9UK05 429 47320 6.03 0 Secreted Telangiectasia, hereditary hemorrhagic, 5 PE1 10 +NX_Q9UK08 70 7841 6.55 0 Cell membrane NA PE1 19 +NX_Q9UK10 706 82471 9.18 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q9UK11 482 55763 9.04 0 Nucleus;Mitochondrion;Nucleus NA PE1 19 +NX_Q9UK12 451 52484 8.96 0 Nucleus;Nucleus;Nucleoplasm NA PE1 19 +NX_Q9UK13 617 71170 8.8 0 Nucleus;Nucleus NA PE1 19 +NX_Q9UK17 655 73451 8.56 6 Cell membrane;Sarcolemma;Dendrite Spinocerebellar ataxia 19;Brugada syndrome 9 PE1 1 +NX_Q9UK22 296 33328 4.29 0 Cytosol;Cytoplasm;Microsome membrane;Nucleoplasm NA PE1 1 +NX_Q9UK23 515 56073 6.15 1 Golgi stack membrane;trans-Golgi network NA PE1 16 +NX_Q9UK28 342 37619 6.11 1 Nucleoplasm;Golgi apparatus membrane;Cytoskeleton NA PE1 19 +NX_Q9UK32 745 83872 5.92 0 Nucleolus;Nucleus;Cytosol;Nucleus;Mitochondrion NA PE1 X +NX_Q9UK33 172 18756 10.13 0 Nucleus;Nucleus NA PE1 19 +NX_Q9UK39 431 48196 6.85 0 Nucleoplasm;Cytoplasm;Nucleus;Perinuclear region;Cytosol;Nucleus NA PE1 4 +NX_Q9UK41 221 25425 5.37 0 Cell membrane;Late endosome membrane NA PE1 8 +NX_Q9UK45 103 11602 5.1 0 Nucleolus;Nucleus NA PE1 19 +NX_Q9UK53 422 46738 9.28 0 Cytosol;Nucleus;Nucleoplasm Squamous cell carcinoma of the head and neck PE1 13 +NX_Q9UK55 444 50707 8.28 0 Cytosol;Nucleoplasm;Secreted NA PE1 14 +NX_Q9UK58 526 59634 10.71 0 Nucleus;Nucleus speckle;Nucleoplasm;Nucleoplasm NA PE1 3 +NX_Q9UK59 544 61555 5.25 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q9UK61 1670 189032 5.55 0 Nucleoplasm;Nucleus;Chromosome NA PE1 3 +NX_Q9UK73 627 70264 6.14 0 Cytosol;Nucleus;Nucleoplasm;Cytoplasm NA PE1 15 +NX_Q9UK76 154 16015 5.47 0 Nucleus;Nucleus membrane;Nucleolus;Cytoplasm;Nucleus NA PE1 17 +NX_Q9UK80 565 62656 9.91 0 Cytosol;Nucleoplasm;Cell membrane;Cytoplasm;Nucleus NA PE1 1 +NX_Q9UK85 242 27007 8.1 0 Endoplasmic reticulum;Nucleus membrane;Secreted;Acrosome;Cytoplasmic vesicle NA PE1 19 +NX_Q9UK96 956 105195 8.47 0 Cytoplasm;Nucleus;Cytosol NA PE1 9 +NX_Q9UK97 447 52329 5.8 0 Cell membrane;Centrosome;Cytoplasm NA PE1 6 +NX_Q9UK99 471 54561 4.88 0 Nucleus;Nucleoplasm;Cytosol NA PE1 11 +NX_Q9UKA1 691 78555 5.32 0 Perinuclear region NA PE1 4 +NX_Q9UKA2 621 70097 6.1 0 Nucleus speckle;Mitochondrion;Nucleus;Cytoplasm Mitochondrial DNA depletion syndrome 13 PE1 6 +NX_Q9UKA4 1901 210512 5.23 0 Cell membrane;Cytoplasm;Nucleolus;Centrosome;Cytosol NA PE1 13 +NX_Q9UKA8 241 27492 4.54 0 Nucleolus;Nucleus speckle NA PE1 1 +NX_Q9UKA9 531 57491 8.72 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q9UKB1 542 62091 6.73 0 Nucleus;Nucleolus;Cytoplasmic vesicle;Cytoplasm NA PE1 5 +NX_Q9UKB3 198 23415 5.51 0 Cytosol;Nucleus;Cytoplasm Hyperphenylalaninemia, mild, non-BH4-deficient PE1 10 +NX_Q9UKB5 411 44536 9.63 1 Basolateral cell membrane;Apical cell membrane;Adherens junction NA PE1 1 +NX_Q9UKC9 423 47062 7.4 0 Cell membrane;Membrane;Nucleus;Nucleolus NA PE1 3 +NX_Q9UKD1 530 56421 5.38 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 20 +NX_Q9UKD2 239 27560 8.34 0 Nucleolus;Nucleus;Nucleus membrane;Nucleus;Nucleolus;Cytoplasm;Nucleolus NA PE1 1 +NX_Q9UKE5 1360 154943 6.7 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm;Recycling endosome;Cytoskeleton Mental retardation, autosomal recessive 54 PE1 3 +NX_Q9UKF2 790 88940 7.84 1 Late endosome membrane NA PE1 1 +NX_Q9UKF5 820 92759 7.29 1 Membrane NA PE1 4 +NX_Q9UKF6 684 77486 5.37 0 Nucleus NA PE1 2 +NX_Q9UKF7 332 38388 5.99 0 Cytoplasm;Nucleoplasm;Cytosol NA PE1 17 +NX_Q9UKG1 709 79663 5.28 0 Spindle;Centrosome;Early endosome membrane;Nucleus Maturity-onset diabetes of the young 14 PE1 3 +NX_Q9UKG4 626 69358 7.16 12 Membrane NA PE1 7 +NX_Q9UKG9 612 70178 6.63 0 Cytoplasmic vesicle;Peroxisome NA PE1 7 +NX_Q9UKH3 698 79016 9.15 1 Cell membrane;Cell membrane;Virion NA PE1 6 +NX_Q9UKI2 254 27678 5.49 0 Cytoskeleton;Cytosol;Endomembrane system;Cytoskeleton;Nucleolus NA PE1 2 +NX_Q9UKI3 123 13710 5.1 0 NA NA PE1 22 +NX_Q9UKI8 766 86700 8.88 0 Nucleus;Nucleus NA PE1 2 +NX_Q9UKI9 436 47432 8.66 0 Nucleus NA PE2 11 +NX_Q9UKJ0 227 25542 10.39 1 Mitochondrion;Membrane NA PE1 7 +NX_Q9UKJ1 303 34005 10.22 1 Cell membrane;Secreted NA PE1 7 +NX_Q9UKJ3 1502 164197 8.81 0 Mitochondrion;Nucleus speckle NA PE1 17 +NX_Q9UKJ5 165 19254 6.34 0 Cell membrane;Cytoplasmic vesicle NA PE1 4 +NX_Q9UKJ8 722 80834 6.22 1 Membrane NA PE1 14 +NX_Q9UKK3 1724 192595 5.43 0 Cytosol;Cytoplasm;Nucleus;Spindle NA PE1 13 +NX_Q9UKK6 140 15847 4.91 0 Nucleoplasm;Cytosol;Nucleus;Nucleus speckle;Cytoplasm NA PE1 20 +NX_Q9UKK9 219 24328 4.87 0 Nucleus;Cytoplasmic vesicle;Nucleus;Centrosome NA PE1 10 +NX_Q9UKL0 485 53327 6.56 0 Nucleus;Nucleus;Nucleoplasm NA PE1 14 +NX_Q9UKL2 312 35322 8.89 7 Cell membrane NA PE2 11 +NX_Q9UKL3 1982 222658 6.14 0 Cytoplasm;Mitochondrion;Nucleus;Nucleolus;PML body;Nucleus;Cytoplasm NA PE1 6 +NX_Q9UKL4 321 36093 8.95 4 Cell membrane;Gap junction NA PE1 15 +NX_Q9UKL6 214 24843 5.62 0 Cytoplasm;Nucleus;Nucleolus NA PE1 17 +NX_Q9UKM7 699 79580 7.38 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane Mental retardation, autosomal recessive 15 PE1 9 +NX_Q9UKM9 306 32463 9.2 0 Nucleus;Nucleoplasm NA PE1 20 +NX_Q9UKN1 5478 558164 5.31 1 Membrane NA PE1 7 +NX_Q9UKN5 801 87920 5.93 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q9UKN7 3530 395293 9.26 0 Cytoskeleton;Stereocilium Deafness, autosomal recessive, 3 PE1 17 +NX_Q9UKN8 822 91982 6.21 0 Nucleus;Nucleus NA PE1 9 +NX_Q9UKP3 347 38382 5.04 0 Cytosol NA PE1 X +NX_Q9UKP4 1686 184095 5.81 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 15 +NX_Q9UKP5 1117 125273 6.24 0 Extracellular matrix NA PE1 5 +NX_Q9UKP6 389 42130 10.68 7 Cell membrane NA PE1 17 +NX_Q9UKQ2 775 87148 6.55 1 Cell membrane;Secreted;Mitochondrion;Cell membrane NA PE1 8 +NX_Q9UKQ9 250 27513 7.1 0 Secreted NA PE1 19 +NX_Q9UKR0 248 26734 7.57 0 Secreted NA PE1 19 +NX_Q9UKR3 277 30570 8.78 0 Secreted NA PE1 19 +NX_Q9UKR5 140 15864 9.86 4 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum membrane;Nucleoplasm NA PE1 14 +NX_Q9UKR8 245 26266 8.61 4 Membrane NA PE1 19 +NX_Q9UKS6 424 48487 5.83 0 Cytosol;Cell membrane;Cytoplasm;Cell membrane NA PE1 11 +NX_Q9UKS7 526 59574 6.3 0 Nucleoplasm;Nucleus;Nucleus;Cytosol NA PE1 2 +NX_Q9UKT4 447 50146 9.17 0 Spindle;Nucleus;Cytoplasm;Nucleoplasm NA PE1 6 +NX_Q9UKT5 387 44136 5.77 0 Cytoplasm;Nucleus NA PE1 5 +NX_Q9UKT6 434 49152 6.02 0 Cytosol;Nucleus NA PE1 5 +NX_Q9UKT7 428 48707 6.41 0 Nucleus;Cytoplasm NA PE1 13 +NX_Q9UKT8 454 51512 6.11 0 Nucleoplasm NA PE1 9 +NX_Q9UKT9 509 58023 6.11 0 Nucleus;Cytoplasm;Cell membrane;Cytosol NA PE1 17 +NX_Q9UKU0 697 77752 7.2 1 Peroxisome membrane;Mitochondrion outer membrane;Microsome membrane;Endoplasmic reticulum membrane NA PE1 5 +NX_Q9UKU6 1024 117000 6.51 1 Membrane NA PE1 12 +NX_Q9UKU7 415 45070 8.12 0 Mitochondrion Isobutyryl-CoA dehydrogenase deficiency PE1 11 +NX_Q9UKU9 493 57104 7.23 0 Secreted NA PE1 9 +NX_Q9UKV0 1011 111297 6.4 0 Nucleus;Nucleoplasm NA PE1 7 +NX_Q9UKV3 1341 151862 6.08 0 Cytosol;Nucleus;Nucleus speckle;Nucleoplasm;Cell membrane;Nucleoplasm NA PE1 14 +NX_Q9UKV5 643 72996 5.95 7 Golgi apparatus;Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 16 +NX_Q9UKV8 859 97208 9.32 0 Cell junction;P-body;Nucleoplasm;Nucleus NA PE1 8 +NX_Q9UKW4 847 97776 6.65 0 NA NA PE1 1 +NX_Q9UKW6 265 31263 5.81 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q9UKX2 1941 223044 5.64 0 Cytoplasm;Myofibril Myopathy, proximal, and ophthalmoplegia PE1 17 +NX_Q9UKX3 1938 223605 5.54 0 Myofibril NA PE1 17 +NX_Q9UKX5 1188 133470 6.24 1 Membrane NA PE1 15 +NX_Q9UKX7 468 50144 6.64 0 Nucleus membrane;Nucleus membrane;Nuclear pore complex;Nucleoplasm NA PE1 22 +NX_Q9UKY0 176 20293 9.24 0 Cell membrane NA PE1 20 +NX_Q9UKY1 873 98098 5.76 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q9UKY3 287 30679 7.83 0 Secreted NA PE5 16 +NX_Q9UKY4 750 84214 9.25 10 Endoplasmic reticulum membrane Muscular dystrophy-dystroglycanopathy limb-girdle C2;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 PE1 14 +NX_Q9UKY7 258 27335 6.06 0 Cell membrane;Cytosol;Nucleolus;Cytoplasm NA PE1 3 +NX_Q9UKZ1 510 55215 5.99 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 2 +NX_Q9UKZ4 2725 305011 5.98 1 Cell membrane;Nucleus;Nucleus speckle;Nucleus matrix;Cytoskeleton;Nucleus;Cytoplasm;Cell membrane NA PE1 X +NX_Q9UKZ9 415 45717 8.81 0 Cytosol;Secreted;Nucleoplasm NA PE1 3 +NX_Q9UL01 958 109773 8.23 2 Cytosol;Nucleoplasm;Membrane Ehlers-Danlos syndrome, musculocontractural type 2 PE1 6 +NX_Q9UL03 887 100390 8.79 0 Nucleus;Cytoskeleton;Nucleoplasm NA PE1 13 +NX_Q9UL12 918 101037 6.8 0 Mitochondrion matrix;Mitochondrion Sarcosinemia PE1 9 +NX_Q9UL15 447 51200 5.76 0 Cytoplasmic vesicle NA PE1 14 +NX_Q9UL16 551 65730 8.94 0 Nucleoplasm;Cilium NA PE1 1 +NX_Q9UL17 535 58328 5.67 0 Nucleus Asthma, with nasal polyps and aspirin intolerance PE1 17 +NX_Q9UL18 857 97214 9.27 0 P-body NA PE1 1 +NX_Q9UL19 164 18179 8.78 1 Membrane NA PE1 11 +NX_Q9UL25 225 24348 8.11 0 Endosome;Endoplasmic reticulum membrane;trans-Golgi network;Golgi apparatus membrane;Early endosome membrane;Cytoplasmic vesicle membrane;Cleavage furrow NA PE1 12 +NX_Q9UL26 194 21855 8.32 0 Phagosome membrane;Cytoplasmic vesicle;Phagosome;Endosome membrane;Cell membrane;Early endosome;Late endosome;Ruffle;Centrosome NA PE1 20 +NX_Q9UL33 140 16146 6.28 0 Cytoplasmic vesicle;Cytosol;Perinuclear region;Endoplasmic reticulum;Golgi apparatus NA PE1 16 +NX_Q9UL36 1845 203704 8.46 0 Nucleoplasm;Cell junction;Nucleus;Cytosol NA PE1 18 +NX_Q9UL40 294 32933 9.24 0 Nucleus;Nucleolus;Cytoplasm NA PE1 5 +NX_Q9UL41 463 52404 9.59 0 Nucleus;Nucleolus NA PE1 X +NX_Q9UL42 364 41509 4.84 0 Nucleolus NA PE1 8 +NX_Q9UL45 172 19744 6.01 0 Cytoplasm;Membrane Hermansky-Pudlak syndrome 9 PE1 15 +NX_Q9UL46 239 27402 5.54 0 Nucleus NA PE1 14 +NX_Q9UL49 500 52697 6.44 0 Nucleoplasm;Nucleus NA PE1 20 +NX_Q9UL51 889 96950 9.15 6 Cell membrane NA PE1 19 +NX_Q9UL52 423 47696 8.85 1 Cell membrane;Secreted NA PE1 4 +NX_Q9UL54 1235 138251 6.84 5 Cytosol;Cytoskeleton;Nucleus;Dendrite;Cytoplasmic vesicle membrane;Nucleus;Nucleolus NA PE1 16 +NX_Q9UL58 517 60034 8.96 0 Cytoplasmic vesicle;Nucleus;Nucleoplasm NA PE1 11 +NX_Q9UL59 606 70992 8.84 0 Nucleus NA PE1 11 +NX_Q9UL62 973 111412 6.94 6 Cell membrane NA PE1 X +NX_Q9UL63 735 84768 5.91 0 Cell membrane;Cytosol;Cytoplasmic vesicle;Cytoplasm;Ruffle;Cell cortex NA PE1 7 +NX_Q9UL68 1186 133043 4.86 0 Nucleus;Chromosome Mental retardation, autosomal dominant 39 PE1 2 +NX_Q9ULA0 475 52428 7.03 0 Cytosol;Cytoplasm NA PE1 2 +NX_Q9ULB1 1477 161883 5.61 1 Synapse;Cell membrane NA PE1 2 +NX_Q9ULB4 789 88689 4.73 1 Cell membrane NA PE1 5 +NX_Q9ULB5 785 87086 4.64 1 Cell membrane NA PE1 18 +NX_Q9ULC0 261 27452 7.72 1 Cell membrane;Membrane;Secreted NA PE1 4 +NX_Q9ULC3 237 26659 6.22 0 Cytosol;Cell membrane;Phagosome;Phagosome membrane;Cytoplasm;Autophagosome;Endosome membrane;Cell membrane Carpenter syndrome 1 PE1 6 +NX_Q9ULC4 181 20555 8.98 0 Cytoplasm;Cytosol;Cell membrane NA PE1 X +NX_Q9ULC5 683 75991 6.49 1 Mitochondrion outer membrane;Endoplasmic reticulum;Mitochondrion;Nucleus;Endoplasmic reticulum membrane;Mitochondrion NA PE1 10 +NX_Q9ULC6 663 74666 6.07 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 1 +NX_Q9ULC8 765 81443 9.33 4 Nucleoplasm;Cytosol;Cytoplasmic vesicle membrane NA PE1 22 +NX_Q9ULD0 1010 114481 6.18 0 Nucleus;Nucleolus;Mitochondrion matrix;Cytosol NA PE1 10 +NX_Q9ULD2 1270 141397 7.33 0 Spindle;Centrosome;Cytoskeleton;Nucleolus;Mitochondrion;Golgi apparatus;Cell membrane;Nucleus Hepatocellular carcinoma PE1 8 +NX_Q9ULD4 1205 135745 6.17 0 Mitochondrion;Nucleoplasm NA PE1 6 +NX_Q9ULD5 760 85176 5.62 0 Nucleus;Nucleus NA PE1 7 +NX_Q9ULD6 942 105648 5.59 0 Cell surface;Cytoplasmic vesicle;Cilium basal body;Cytoplasm NA PE1 4 +NX_Q9ULD8 1083 117129 8.25 6 Nucleus;Mitochondrion;Membrane NA PE1 12 +NX_Q9ULD9 1512 162208 8.92 0 Cytosol;Nucleoplasm NA PE1 5 +NX_Q9ULE0 1092 122676 6 0 Cytosol;Cytoskeleton NA PE1 X +NX_Q9ULE3 1009 113853 9.11 0 Cytoskeleton NA PE1 7 +NX_Q9ULE4 1060 121044 5.87 0 NA NA PE1 4 +NX_Q9ULE6 856 96754 6.08 0 Cytosol NA PE1 10 +NX_Q9ULF5 831 94132 6.25 7 Membrane;Cell membrane;Nucleoplasm;Cytosol NA PE1 2 +NX_Q9ULG1 1556 176753 9.53 0 Nucleus;Nucleoplasm;Nucleus NA PE1 15 +NX_Q9ULG3 409 46740 8.11 0 NA NA PE1 3 +NX_Q9ULG6 757 87340 5.67 1 Endoplasmic reticulum;Golgi apparatus;Cytoplasmic granule membrane NA PE1 15 +NX_Q9ULH0 1771 196542 6.19 4 Nucleoplasm;Membrane;Late endosome Spastic paraplegia, intellectual disability, nystagmus, and obesity PE1 2 +NX_Q9ULH1 1129 125498 6.95 0 Cytoplasm;Membrane;Cell membrane;Cytosol;Centrosome NA PE1 8 +NX_Q9ULH4 789 84731 6.27 1 Membrane;Postsynaptic cell membrane;Synapse;Cytoplasmic vesicle NA PE1 6 +NX_Q9ULH7 1088 118127 5.89 0 Nucleus;Nucleus speckle NA PE1 16 +NX_Q9ULI0 1458 164914 6.36 0 Nucleus;Nucleoplasm NA PE1 2 +NX_Q9ULI1 1742 197466 5.85 0 NA NA PE1 4 +NX_Q9ULI2 386 42464 5.67 0 Nucleoplasm;Cytoplasm;Microtubule organizing center NA PE1 12 +NX_Q9ULI3 1381 147461 5.8 1 Cytoplasmic vesicle;Cell membrane;Cell junction;Secreted NA PE1 3 +NX_Q9ULI4 1882 194590 9.12 0 Cytosol;Cytoskeleton;Cell membrane;Nucleus NA PE1 14 +NX_Q9ULJ1 636 73728 6.09 0 Mitochondrion NA PE1 1 +NX_Q9ULJ3 1066 118870 8.61 0 Nucleus;Nucleus NA PE1 21 +NX_Q9ULJ6 1067 115483 7.09 0 Cytoplasmic vesicle;Nucleus speckle;Nucleoplasm;Cytoplasm NA PE1 10 +NX_Q9ULJ7 1429 155859 6.13 0 Cytosol;Endosome;Nucleoplasm NA PE1 4 +NX_Q9ULJ8 1098 123342 5.01 0 Cytosol;Cytoskeleton;Synaptosome;Nucleoplasm NA PE1 7 +NX_Q9ULK0 1009 112131 6.23 3 Cell membrane;Postsynaptic cell membrane NA PE1 10 +NX_Q9ULK2 861 91514 9.82 0 Nucleus;Cytoplasm;Cytosol;Nucleus NA PE1 7 +NX_Q9ULK4 1368 156474 7.09 0 Nucleus;Nucleus;Cytoplasmic vesicle;Nucleoplasm Mental retardation, autosomal recessive 18 PE1 6 +NX_Q9ULK5 521 59714 9.27 4 Cell membrane Neural tube defects PE1 1 +NX_Q9ULK6 438 48072 5.11 1 Membrane NA PE1 4 +NX_Q9ULL0 1709 187021 8.72 0 Acrosome NA PE1 X +NX_Q9ULL1 1385 155439 5.84 0 Nucleoplasm NA PE1 6 +NX_Q9ULL4 1909 206847 5.96 1 Cell membrane NA PE1 X +NX_Q9ULL5 1215 129991 8.18 0 Cytosol;Nucleus;Synaptosome;Postsynaptic density NA PE1 19 +NX_Q9ULL8 1493 164857 6.2 0 Cytoskeleton Mental retardation, X-linked, syndromic, Stocco dos Santos type PE1 X +NX_Q9ULM0 1364 151232 8.17 0 Centrosome NA PE1 14 +NX_Q9ULM2 529 61340 9.02 0 Nucleus NA PE1 19 +NX_Q9ULM3 1422 150782 9.1 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q9ULM6 557 63307 6.82 0 Cytoplasm;Nucleus;Cytosol NA PE1 5 +NX_Q9ULN7 279 30513 6.04 0 NA NA PE1 19 +NX_Q9ULP0 352 38459 5.79 0 Golgi apparatus;Cytosol;Nucleus;Cytosol NA PE1 16 +NX_Q9ULP9 559 62919 7.14 0 Cell junction;Cell membrane;Cytoplasm Familial infantile myoclonic epilepsy;Epileptic encephalopathy, early infantile, 16;Deafness, autosomal dominant, 65;Deafness, autosomal recessive, 86;Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome PE1 16 +NX_Q9ULQ0 834 95360 5.65 0 Cytosol;Cytoplasm NA PE1 7 +NX_Q9ULQ1 816 94147 8.47 12 Lysosome membrane;Endosome membrane NA PE1 12 +NX_Q9ULR0 285 32992 5.15 0 Nucleus speckle;Nucleus NA PE1 3 +NX_Q9ULR3 514 56448 6.14 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 12 +NX_Q9ULR5 123 14237 4.06 0 Cytosol NA PE1 2 +NX_Q9ULS5 477 53785 8.77 2 Membrane;Cytosol NA PE1 12 +NX_Q9ULS6 477 54237 5.58 6 Cell membrane NA PE1 8 +NX_Q9ULT0 858 96185 6.03 0 Cytoplasm;Cell membrane Gastrointestinal defects and immunodeficiency syndrome PE1 2 +NX_Q9ULT6 936 100574 8.14 1 Golgi apparatus;Cell membrane NA PE1 22 +NX_Q9ULT8 2610 289384 5.21 0 Nucleolus;Nucleus NA PE1 14 +NX_Q9ULU4 1186 131692 6.83 0 Nucleus;Nucleus;Nucleoplasm;Golgi apparatus NA PE1 20 +NX_Q9ULU8 1353 152786 5.5 0 Cytoplasmic vesicle membrane;Cytoplasmic vesicle;Synapse NA PE1 3 +NX_Q9ULV0 1848 213672 6.77 0 Cytoplasm;Cell membrane Diarrhea 2, with microvillus atrophy PE1 18 +NX_Q9ULV1 537 59881 7.05 7 Cell membrane;Cytosol;Nucleoplasm;Membrane;Cell membrane Vitreoretinopathy, exudative 1 PE1 11 +NX_Q9ULV3 898 100045 5.77 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q9ULV4 474 53249 6.65 0 Cytoskeleton;Cytoplasm;Cell membrane;Lamellipodium;Cytoskeleton NA PE1 12 +NX_Q9ULV5 492 53011 5.29 0 Nucleus speckle;Nucleus Cataract 5, multiple types PE1 16 +NX_Q9ULV8 474 52456 7.83 0 Nucleoplasm NA PE1 19 +NX_Q9ULW0 747 85653 9.29 0 Nucleus;Spindle;Nucleus;Spindle;Spindle pole;Nucleoplasm NA PE1 20 +NX_Q9ULW2 581 65336 8.83 7 Cell membrane;Nucleoplasm NA PE1 12 +NX_Q9ULW3 272 31079 9.87 0 Nucleus;Nucleolus NA PE1 6 +NX_Q9ULW5 256 27900 9.43 0 Cell membrane;Cytoplasmic vesicle;Centrosome;Secretory vesicle membrane;Golgi apparatus membrane NA PE1 16 +NX_Q9ULW6 460 52542 4.39 0 Cell membrane;Cytosol;Cytoplasmic vesicle;Nucleus NA PE1 X +NX_Q9ULW8 664 74743 5.3 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle Uncombable hair syndrome 1 PE1 1 +NX_Q9ULX3 412 46675 6.72 0 Focal adhesion;Nucleus;Cytosol NA PE1 16 +NX_Q9ULX5 631 68298 8.88 2 Nucleus speckle;Membrane NA PE2 17 +NX_Q9ULX6 646 71649 4.97 0 Nucleus;Nucleus speckle;Nucleus;Nucleus matrix;Nucleus speckle;PML body;Cytoplasm NA PE1 19 +NX_Q9ULX7 337 37668 5.9 1 Cell membrane;Membrane NA PE1 1 +NX_Q9ULX9 164 17760 9.85 0 Mitochondrion;Nucleus;Nucleus NA PE1 22 +NX_Q9ULY5 219 25073 5.12 1 Membrane;Cytosol NA PE1 12 +NX_Q9ULZ0 132 13627 8.45 0 Nucleus;Cytoplasm NA PE2 16 +NX_Q9ULZ1 77 8569 11.83 0 Secreted NA PE1 X +NX_Q9ULZ2 295 34291 7.61 0 Nucleus;Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Mitochondrion NA PE1 4 +NX_Q9ULZ3 195 21627 5.95 0 Cytosol;Cytoplasm;Endoplasmic reticulum;Mitochondrion;Nucleus;Nucleolus;Nucleus NA PE1 16 +NX_Q9ULZ9 603 66653 6.08 0 Cell membrane;Extracellular matrix NA PE1 12 +NX_Q9UM00 188 21175 9.77 2 Endoplasmic reticulum membrane;Endoplasmic reticulum;Golgi apparatus membrane Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome;Glaucoma, primary open angle PE1 1 +NX_Q9UM01 511 55991 5.29 12 Basolateral cell membrane Lysinuric protein intolerance PE1 14 +NX_Q9UM07 663 74079 6.15 0 Cytoplasmic granule;Nucleus;Cytoplasm Rheumatoid arthritis PE1 1 +NX_Q9UM11 496 55179 9.41 0 Nucleus;Cytoplasm;Nucleus membrane;Nucleoplasm NA PE1 19 +NX_Q9UM13 185 21252 9.17 0 Golgi apparatus;Nucleoplasm NA PE1 4 +NX_Q9UM19 191 22202 4.76 0 Nucleus;Cytoplasm NA PE1 1 +NX_Q9UM21 535 61544 6.94 1 Golgi apparatus membrane;Secreted;Golgi apparatus NA PE1 2 +NX_Q9UM22 224 25437 6.33 0 Secreted NA PE1 7 +NX_Q9UM44 414 46850 5.77 1 Membrane NA PE1 3 +NX_Q9UM47 2321 243631 5.18 1 Cytosol;Nucleoplasm;Cell membrane;Nucleus;Cytoskeleton Lateral meningocele syndrome;Myofibromatosis, infantile 2;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 PE1 19 +NX_Q9UM54 1294 149691 8.74 0 Perinuclear region;trans-Golgi network membrane;Ruffle membrane;Nucleoplasm;Golgi apparatus;Nucleus;Clathrin-coated pit;Ruffle membrane;Clathrin-coated vesicle membrane Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy;Deafness, autosomal recessive, 37;Deafness, autosomal dominant, 22 PE1 6 +NX_Q9UM63 463 50819 8.85 0 Golgi apparatus;Cytoplasmic vesicle;Nucleus;Nucleus NA PE1 6 +NX_Q9UM73 1620 176442 6.67 1 Cell membrane;Cell membrane Neuroblastoma 3 PE1 2 +NX_Q9UM82 520 58427 9 0 Nucleolus;Nucleus;Nucleus NA PE1 20 +NX_Q9UMD9 1497 150419 8.89 1 Hemidesmosome;Membrane;Basement membrane;Basement membrane Epithelial recurrent erosion dystrophy;Generalized atrophic benign epidermolysis bullosa PE1 10 +NX_Q9UMF0 924 97116 5.71 1 Nucleoplasm;Membrane NA PE1 19 +NX_Q9UMN6 2715 293515 8.59 0 Cytosol;Nucleoplasm;Nucleus NA PE1 19 +NX_Q9UMQ3 279 31188 8.65 0 Cytosol;Nucleus;Nucleoplasm NA PE1 11 +NX_Q9UMQ6 739 84423 5.39 0 Acrosome NA PE1 6 +NX_Q9UMR2 479 53927 5.96 0 Nucleus envelope;Cytoplasm;Nuclear pore complex;Nucleus membrane NA PE1 16 +NX_Q9UMR3 447 49232 7.29 0 Nucleus Atrial septal defect 4 PE1 7 +NX_Q9UMR5 302 34225 5.87 0 Endoplasmic reticulum;Lysosome NA PE1 6 +NX_Q9UMR7 237 27512 6.32 1 Membrane NA PE1 12 +NX_Q9UMS0 254 28463 4.97 0 Cytosol;Nucleoplasm;Mitochondrion;Cytosol Multiple mitochondrial dysfunctions syndrome 1 PE1 2 +NX_Q9UMS4 504 55181 6.14 0 Nucleus speckle;Nucleus;Nucleoplasm;Spindle;Cytoplasm;Lipid droplet NA PE1 11 +NX_Q9UMS5 762 87252 9.64 0 Nucleus;Nucleolus;Nucleus NA PE1 1 +NX_Q9UMS6 1093 117514 8.75 0 Cytoskeleton;Cytoskeleton;Cytosol;Cytoplasmic vesicle;Nucleus;Cytoplasm;Cytoskeleton;Z line;Focal adhesion NA PE1 4 +NX_Q9UMW8 372 43011 8.05 0 Nucleus;Cytosol;Cytoplasm;Nucleus Pseudo-TORCH syndrome 2 PE1 22 +NX_Q9UMX0 589 62519 5.02 0 Cytoplasm;Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Autophagosome;Nucleoplasm;Cell membrane NA PE1 9 +NX_Q9UMX1 484 53947 5.16 0 Nucleus;Cytoplasm;Nucleus Medulloblastoma PE1 10 +NX_Q9UMX2 235 27413 6.38 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q9UMX3 212 23280 9.33 1 Endoplasmic reticulum;Nucleus;Mitochondrion;Mitochondrion outer membrane;Early endosome membrane;Mitochondrion membrane;Endoplasmic reticulum membrane;Recycling endosome membrane;Membrane;trans-Golgi network membrane;cis-Golgi network membrane;Nucleus outer membrane;Mitochondrion inner membrane;Cytoplasm NA PE1 2 +NX_Q9UMX5 172 18856 5.51 0 Extracellular space;Nucleus NA PE1 1 +NX_Q9UMX6 200 23420 4.75 0 Cell membrane Retinitis pigmentosa 48 PE1 6 +NX_Q9UMX9 530 58268 7.17 12 Melanosome membrane Albinism, oculocutaneous, 4 PE1 5 +NX_Q9UMY1 257 29426 9.68 0 Nucleolus;Nucleus;Mitochondrion;Nucleolus;Nucleolus;Nucleus NA PE1 6 +NX_Q9UMY4 172 19730 7.71 0 Membrane NA PE1 X +NX_Q9UMZ2 1314 140654 4.9 0 trans-Golgi network membrane;Cytosol;Cytoplasm NA PE1 17 +NX_Q9UMZ3 2332 260924 5.57 1 Cytosol;Membrane Deafness, autosomal recessive, 84A PE1 12 +NX_Q9UN19 280 32194 7.66 0 Cytoplasm;Membrane NA PE1 4 +NX_Q9UN30 329 37447 6.42 0 Nucleus;Nucleus NA PE1 X +NX_Q9UN36 371 40798 5.08 0 Golgi apparatus;Cytosol;Cytoplasm;Perinuclear region;Growth cone;Nucleoplasm;Microtubule organizing center NA PE1 14 +NX_Q9UN37 437 48898 7.64 0 Midbody;Prevacuolar compartment membrane;Late endosome membrane;Midbody NA PE1 16 +NX_Q9UN42 357 41598 4.69 1 Nucleus inner membrane NA PE1 X +NX_Q9UN66 801 87639 4.77 1 Cell membrane NA PE1 5 +NX_Q9UN67 800 87621 4.75 1 Cell membrane NA PE1 5 +NX_Q9UN70 934 101077 5.07 1 Cell membrane;Cell membrane NA PE1 5 +NX_Q9UN71 923 99927 4.8 1 Cell membrane NA PE2 5 +NX_Q9UN72 937 100865 5.08 1 Cell membrane NA PE2 5 +NX_Q9UN73 950 102716 4.93 1 Cytoplasmic vesicle;Cell membrane;Secreted NA PE1 5 +NX_Q9UN74 947 102293 4.96 1 Nucleoplasm;Cytosol;Cell membrane;Cell membrane NA PE1 5 +NX_Q9UN75 941 101652 5.13 1 Cell membrane;Cytosol NA PE1 5 +NX_Q9UN76 642 72153 8.53 12 Cytoplasmic vesicle;Membrane NA PE1 X +NX_Q9UN79 622 69228 6.26 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q9UN81 338 40056 9.54 0 Nucleolus;Cytoplasm NA PE1 unknown +NX_Q9UN86 482 54121 5.41 0 Cytoplasm;Cytosol NA PE1 4 +NX_Q9UN88 632 72022 5.55 3 Cell membrane;Postsynaptic cell membrane NA PE2 X +NX_Q9UNA0 930 101718 9.13 0 Nucleoplasm;Extracellular matrix NA PE1 21 +NX_Q9UNA1 814 92235 6.2 0 Cytosol;Focal adhesion;Cytoskeleton Leukemia, juvenile myelomonocytic PE1 5 +NX_Q9UNA3 340 39497 6.42 1 Golgi apparatus membrane NA PE1 3 +NX_Q9UNA4 740 83006 5.73 0 Nucleus;Cytoplasm;Nucleus speckle;Cytosol;Nucleus NA PE1 18 +NX_Q9UND3 350 40133 9.48 0 Nuclear pore complex;Nucleus membrane NA PE2 16 +NX_Q9UNE0 448 48582 5.08 1 Membrane Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PE1 2 +NX_Q9UNE2 315 34464 9.23 0 Secretory vesicle membrane;Cytoplasm NA PE1 17 +NX_Q9UNE7 303 34856 5.61 0 Nucleus;Cytosol;Nucleoplasm;Cytoplasm Spinocerebellar ataxia, autosomal recessive, 16 PE1 16 +NX_Q9UNF0 486 55739 5.08 0 Cytoplasm;Cell membrane;Cell projection;Caveola;Cytoplasmic vesicle;Nucleus speckle;Cytosol;Cytoskeleton;Cytoplasmic vesicle membrane;Early endosome;Recycling endosome membrane;Ruffle membrane;Cell membrane NA PE1 22 +NX_Q9UNF1 606 64954 9.35 0 Cytosol;Nucleus;Nucleolus Bartter syndrome 5, antenatal, transient PE1 X +NX_Q9UNG2 199 22724 7.62 1 Cell membrane NA PE1 1 +NX_Q9UNH5 594 66574 9.21 0 Nucleus;Nucleus;Cytosol;Nucleoplasm;Centrosome;Spindle pole;Spindle;Kinocilium Deafness, autosomal recessive, 105 PE1 1 +NX_Q9UNH6 387 45303 5.02 0 Cytosol;Nucleolus;Cytoplasmic vesicle membrane NA PE1 1 +NX_Q9UNH7 406 46649 5.81 0 Golgi apparatus;Cytoplasm;Cytoplasm;Nucleus;Early endosome;Early endosome membrane;Cytoplasmic vesicle;Endosome;Lysosome NA PE1 14 +NX_Q9UNI1 258 27798 8.59 0 Secreted NA PE1 12 +NX_Q9UNI6 340 37687 6.41 0 Nucleus;Cytosol;Nucleus NA PE1 1 +NX_Q9UNK0 236 26907 4.91 1 Nucleus;Cytoskeleton;Membrane;Cytosol;Golgi apparatus NA PE1 17 +NX_Q9UNK4 145 16546 8.6 0 Secreted NA PE1 1 +NX_Q9UNK9 670 75276 4.72 0 Nucleoplasm NA PE1 14 +NX_Q9UNL2 185 21080 9.61 4 Cytosol;Endoplasmic reticulum membrane NA PE1 3 +NX_Q9UNL4 249 28530 7.53 0 Nucleus;Nucleoplasm NA PE1 12 +NX_Q9UNM6 376 42945 5.53 0 Nucleus speckle;Cytosol NA PE1 11 +NX_Q9UNN4 478 52444 4.58 0 Nucleus NA PE1 2 +NX_Q9UNN5 650 73954 4.81 0 Nucleus;Nucleus NA PE1 1 +NX_Q9UNN8 238 26671 6.7 1 Cytoplasm;Cell membrane;Membrane NA PE1 20 +NX_Q9UNP4 418 47990 9.13 1 Golgi apparatus membrane;Cytoplasmic vesicle Salt and pepper developmental regression syndrome PE1 2 +NX_Q9UNP9 301 33431 5.41 0 Nucleus;Nucleus speckle NA PE1 1 +NX_Q9UNQ0 655 72314 8.91 6 Cell membrane;Cell membrane;Nucleus;Mitochondrion membrane NA PE1 4 +NX_Q9UNQ2 313 35236 10.01 0 Nucleolus;Cytosol;Nucleus;Nucleoplasm;Nucleolus NA PE1 5 +NX_Q9UNS1 1208 138658 5.28 0 Nucleus;Nucleus NA PE1 12 +NX_Q9UNS2 423 47873 6.19 0 Cytosol;Nucleus;Cytoplasm;Nucleus NA PE1 17 +NX_Q9UNT1 228 26101 4.75 0 Centriole;Cilium basal body;Cytoplasm NA PE1 22 +NX_Q9UNU6 501 58068 8.78 1 Microsome membrane;Endoplasmic reticulum membrane NA PE1 3 +NX_Q9UNW1 487 55051 7.93 0 Endoplasmic reticulum lumen Thyroid cancer, non-medullary, 2 PE1 10 +NX_Q9UNW8 380 42499 8.95 7 Cell membrane NA PE1 14 +NX_Q9UNW9 492 49009 8.24 0 Nucleoplasm;Nucleus;Golgi apparatus;Nucleus NA PE1 19 +NX_Q9UNX3 145 17256 10.55 0 NA NA PE1 5 +NX_Q9UNX4 943 106099 6.2 0 Nucleus;Nucleolus;Nucleus membrane;Nucleolus NA PE1 1 +NX_Q9UNX9 436 47846 5.25 2 Nucleolus;Membrane NA PE1 19 +NX_Q9UNY4 1162 129588 8.63 0 Nucleus;Cytoplasm;Cytosol NA PE1 1 +NX_Q9UNY5 417 47688 6.28 0 Cytoplasmic vesicle;Cytosol;Nucleus;Nucleus NA PE1 17 +NX_Q9UNZ2 370 40573 4.99 0 Cytosol;Nucleus;Golgi stack;Chromosome;Nucleoplasm;Cell membrane NA PE1 20 +NX_Q9UNZ5 99 10577 11.55 0 Nucleus;Nucleolus;Nucleus NA PE1 19 +NX_Q9UP38 647 71158 8.33 7 Cell membrane;Membrane;Cell membrane NA PE1 7 +NX_Q9UP52 801 88755 5.72 1 Cell membrane;Cytoplasm Hemochromatosis 3 PE1 7 +NX_Q9UP65 541 60939 6.46 0 Membrane;Cytosol NA PE1 19 +NX_Q9UP79 889 96460 5.78 0 Extracellular matrix NA PE1 11 +NX_Q9UP83 839 92743 6.15 0 Nucleoplasm;Cytosol;Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2I PE1 7 +NX_Q9UP95 1085 120650 6.02 12 Endosome;Membrane NA PE1 16 +NX_Q9UPA5 3926 416469 7.28 0 Cytoskeleton;Cytoplasm;Synaptosome NA PE1 3 +NX_Q9UPC5 381 43860 9.89 7 Nucleus;Cytosol;Cell membrane NA PE2 X +NX_Q9UPE1 567 62014 6.83 0 NA NA PE1 X +NX_Q9UPG8 496 54584 8.95 0 Cytosol;Nucleus;Nucleoplasm NA PE1 20 +NX_Q9UPI3 526 57241 5.78 12 Cell membrane;Cell membrane Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome PE1 14 +NX_Q9UPM6 363 40045 8.77 0 Nucleus;Nucleolus;Cell membrane;Nucleus NA PE1 9 +NX_Q9UPM8 1137 127287 5.66 0 trans-Golgi network membrane Spastic paraplegia 51, autosomal recessive;Stuttering, familial persistent 1 PE1 15 +NX_Q9UPM9 204 22775 6.73 0 Cilium basal body;Cilium axoneme Joubert syndrome 27;Meckel syndrome 9 PE1 17 +NX_Q9UPN3 7388 838308 5.28 0 Cytoplasm;Cytoplasm;Golgi apparatus;Ruffle membrane;Cell membrane;Cytoskeleton NA PE1 1 +NX_Q9UPN4 1083 122149 8.84 0 Microtubule organizing center;Centrosome;Centriolar satellite;Cilium basal body;Acrosome;Cytoskeleton;Cytoskeleton NA PE1 17 +NX_Q9UPN6 1271 140519 8.41 0 Nucleoplasm;Nucleus;Nucleus matrix NA PE1 6 +NX_Q9UPN7 881 96724 4.45 0 Cytoplasm;Cytosol NA PE1 19 +NX_Q9UPN9 1127 122533 6.23 0 Nucleus;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA PE1 1 +NX_Q9UPP1 1060 117864 8.92 0 Nucleus;Nucleolus;Nucleus Mental retardation, X-linked, syndromic, Siderius type PE1 X +NX_Q9UPP2 1182 127621 6.08 0 Cytoplasm NA PE1 12 +NX_Q9UPP5 1409 155681 5.83 0 Cell membrane;Cytosol;Golgi apparatus NA PE1 1 +NX_Q9UPQ0 1083 121867 6.1 0 Cell membrane;Cytoskeleton NA PE1 4 +NX_Q9UPQ3 857 94470 8.18 0 Cytoplasm NA PE1 2 +NX_Q9UPQ4 493 56540 6.71 0 Cytoplasm;Nucleoplasm;Nucleus NA PE1 8 +NX_Q9UPQ7 1066 119596 5.68 0 Cytosol;Nucleus NA PE1 3 +NX_Q9UPQ8 538 59268 8.87 15 Golgi apparatus;Nucleus;Cytosol;Endoplasmic reticulum membrane Congenital disorder of glycosylation 1M PE1 9 +NX_Q9UPQ9 1833 194002 6.31 0 P-body NA PE1 22 +NX_Q9UPR0 1127 125866 6.47 0 Cytoplasm NA PE1 3 +NX_Q9UPR3 1016 113928 5.63 0 Cytosol;Nucleus;Cytoplasm NA PE1 1 +NX_Q9UPR5 921 100368 5.02 11 Basolateral cell membrane;Cell membrane;Dendritic spine;Perikaryon;Dendrite NA PE1 19 +NX_Q9UPR6 939 101330 8.76 0 Nucleoplasm NA PE1 19 +NX_Q9UPS6 1966 212803 4.86 0 Nucleus speckle;Chromosome;Nucleoplasm NA PE1 12 +NX_Q9UPS8 1709 196324 5.54 0 Golgi apparatus;Cytoplasmic vesicle Thrombocytopenia 2 PE1 10 +NX_Q9UPT5 735 83382 6.33 0 Cytosol;Midbody ring;Cytosol;Cell membrane;Cell membrane;Cytoplasmic vesicle NA PE1 17 +NX_Q9UPT6 1336 147457 5.26 0 Cytoplasm;Cytoplasmic vesicle NA PE1 16 +NX_Q9UPT8 1303 140257 5.87 0 Nucleus;Cytosol;Nucleoplasm NA PE1 19 +NX_Q9UPT9 525 59961 8.37 0 Nucleus speckle;Nucleus NA PE1 17 +NX_Q9UPU3 1222 135755 6.14 1 Membrane NA PE1 10 +NX_Q9UPU5 2620 294365 5.79 0 Cytosol;Nucleoplasm NA PE1 1 +NX_Q9UPU7 963 109880 5.85 0 Cytoplasmic vesicle NA PE1 15 +NX_Q9UPU9 718 79415 8.61 0 Cell junction;Cytosol;Cytoplasm;Dendrite;Synaptosome NA PE1 14 +NX_Q9UPV0 1460 164314 5.27 0 Centriole;Nucleus;Centrosome;Nucleoplasm Nephronophthisis 15 PE1 11 +NX_Q9UPV7 400 45192 5.48 0 NA NA PE1 9 +NX_Q9UPV9 953 106040 5.59 0 Cytoplasm;Nucleoplasm;Endoplasmic reticulum;Cytoplasm;Nucleus;Mitochondrion;Endosome;Early endosome NA PE1 3 +NX_Q9UPW0 622 68960 6.59 0 Nucleoplasm;Nucleus;Nucleus speckle;Cytoplasmic vesicle NA PE1 1 +NX_Q9UPW5 1226 138448 5.78 0 Nucleolus;Cytoplasmic vesicle;Mitochondrion;Cytoplasm;Cytosol;Nucleus NA PE1 9 +NX_Q9UPW6 733 82555 6.44 0 Nucleoplasm;Nucleus matrix Cleft palate isolated PE1 2 +NX_Q9UPW8 1703 193014 5.21 0 Cytoplasm;Presynaptic cell membrane;Cell membrane NA PE1 19 +NX_Q9UPX0 1349 147089 6.22 1 Cytosol;Postsynaptic cell membrane;Postsynaptic density NA PE1 11 +NX_Q9UPX6 916 102993 7.04 1 Golgi apparatus;Membrane NA PE1 15 +NX_Q9UPX8 1470 158822 6.48 0 Dendritic spine;Apical cell membrane;Cytoplasm;Synapse;Postsynaptic density;Growth cone Autism 17 PE1 11 +NX_Q9UPY3 1922 218682 5.47 0 Cytoplasm;Cytosol Rhabdomyosarcoma, embryonal, 2;Pleuropulmonary blastoma;Goiter multinodular 1, with or without Sertoli-Leydig cell tumors PE1 14 +NX_Q9UPY5 501 55423 9.29 12 Membrane;Cytoplasmic vesicle NA PE1 4 +NX_Q9UPY6 502 55293 6 0 Cytoskeleton NA PE1 13 +NX_Q9UPY8 281 31982 5.33 0 Cytosol;Cytoskeleton NA PE1 2 +NX_Q9UPZ3 1129 127449 5.35 0 Cytosol Hermansky-Pudlak syndrome 5 PE1 11 +NX_Q9UPZ6 1657 185363 7.74 1 Cell membrane;Secreted NA PE1 7 +NX_Q9UPZ9 632 71427 9.79 0 Cilium basal body;Cilium;Cytosol;Nucleus Endocrine-cerebroosteodysplasia PE1 6 +NX_Q9UQ03 480 54953 8.53 0 Cytoskeleton;Focal adhesion;Cell membrane NA PE1 15 +NX_Q9UQ05 1017 111693 8.87 6 Membrane NA PE2 17 +NX_Q9UQ07 419 48014 9.64 0 Endoplasmic reticulum;Cytoplasm;Cilium;Nucleus NA PE2 14 +NX_Q9UQ10 334 36382 6.76 0 Cytoskeleton;Nucleoplasm NA PE1 19 +NX_Q9UQ13 582 64888 8.65 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Noonan syndrome-like disorder with loose anagen hair PE1 10 +NX_Q9UQ16 869 97746 8.51 0 Cytoplasm;Golgi apparatus;Cytoskeleton NA PE1 1 +NX_Q9UQ26 1411 160403 9.17 0 Synapse;Cytosol;Cell membrane;Presynaptic cell membrane NA PE1 8 +NX_Q9UQ35 2752 299615 12.05 0 Nucleus;Cytoplasm;Nucleus speckle;Nucleus speckle NA PE1 16 +NX_Q9UQ49 428 48252 6.78 0 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA PE1 11 +NX_Q9UQ52 1028 113956 5.73 0 Cell membrane NA PE1 3 +NX_Q9UQ53 548 63198 7.72 1 Golgi apparatus membrane NA PE1 5 +NX_Q9UQ72 335 37146 6.65 0 Secreted NA PE1 19 +NX_Q9UQ74 426 47772 8.94 0 Secreted NA PE2 19 +NX_Q9UQ80 394 43787 6.13 0 Cytoplasm;Cytosol;Cytoplasm;Nucleolus NA PE1 12 +NX_Q9UQ84 846 94103 8.59 0 Nucleoplasm;Nucleus;Nucleus NA PE1 1 +NX_Q9UQ88 783 91362 5.28 0 Cytoplasm;Nucleus NA PE1 1 +NX_Q9UQ90 795 88235 8.79 2 Mitochondrion inner membrane Spastic paraplegia 7, autosomal recessive PE1 16 +NX_Q9UQB3 1225 132656 7.78 0 Nucleoplasm;Golgi apparatus;Cell junction;Perikaryon;Dendrite;Adherens junction;Nucleus NA PE1 5 +NX_Q9UQB8 552 60868 8.99 0 Filopodium;Ruffle;Membrane;Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA PE1 17 +NX_Q9UQB9 309 35591 8.96 0 Nucleus;Spindle;Chromosome;Centromere Spermatogenic failure 5 PE1 19 +NX_Q9UQC2 676 74458 8.54 0 Cell membrane;Cytoplasm;Cell membrane NA PE1 11 +NX_Q9UQC9 943 103941 6.56 1 Cell junction;Basal cell membrane;Cell membrane;Nucleus;Cell junction;Secreted NA PE1 1 +NX_Q9UQD0 1980 225280 5.95 24 Cell membrane;Cytoplasmic vesicle;Cell junction;Cytoplasmic vesicle Seizures, benign familial infantile, 5;Epileptic encephalopathy, early infantile, 13;Cognitive impairment with or without cerebellar ataxia PE1 12 +NX_Q9UQE7 1217 141542 6.77 0 Nucleus;Chromosome;Centromere;Nucleoplasm Cornelia de Lange syndrome 3 PE1 10 +NX_Q9UQF0 538 59866 8.8 1 Cell membrane;Cell membrane;Virion NA PE1 7 +NX_Q9UQF2 711 77524 4.87 0 Cell membrane;Cytoplasm;Perinuclear region;Nucleus;Endoplasmic reticulum membrane;Mitochondrion membrane Diabetes mellitus, non-insulin-dependent PE1 11 +NX_Q9UQG0 969 109665 9.15 0 NA NA PE2 3 +NX_Q9UQK1 317 36445 7.15 0 NA NA PE1 10 +NX_Q9UQL6 1122 121978 5.83 0 Nucleus;Cytoplasm;Nucleus speckle;Golgi apparatus;Cytosol NA PE1 17 +NX_Q9UQM7 478 54088 6.61 0 Presynaptic cell membrane;Synapse NA PE1 5 +NX_Q9UQN3 213 23907 8.81 0 Nucleus;Cytoplasm;Cytosol;Late endosome membrane;Cytosol Amyotrophic lateral sclerosis 17;Frontotemporal dementia, chromosome 3-linked PE1 3 +NX_Q9UQP3 1299 144034 5.41 0 Extracellular matrix NA PE1 1 +NX_Q9UQQ1 740 80558 5.2 1 Cytosol;Apical cell membrane NA PE1 11 +NX_Q9UQQ2 575 63225 6.75 0 Nucleoplasm Celiac disease 13;Diabetes mellitus, insulin-dependent PE1 12 +NX_Q9UQR0 700 77257 8.79 0 Cytosol;Nucleolus;Nucleus NA PE1 X +NX_Q9UQR1 794 88976 6.03 0 Nucleus;Golgi apparatus;Nucleus Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies PE1 3 +NX_Q9UQV4 416 44346 8.64 1 Nucleus;Lysosome membrane;Cytoplasmic vesicle membrane;Cytoplasmic vesicle NA PE1 3 +NX_Q9WJR5 959 108106 8.99 0 NA NA PE2 19 +NX_Q9XRX5 114 12913 9.14 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle NA PE1 1 +NX_Q9Y210 931 106326 6.24 6 Cytosol;Membrane;Nucleoplasm Focal segmental glomerulosclerosis 2 PE1 11 +NX_Q9Y215 455 47766 8.42 0 Cell membrane;Cell junction;Synapse Myasthenic syndrome, congenital, 5 PE1 3 +NX_Q9Y216 660 75833 5.94 0 Cytoplasm NA PE1 8 +NX_Q9Y217 621 71968 7.59 0 Cytoplasm;Nucleus envelope NA PE1 13 +NX_Q9Y219 1238 133367 5.53 1 Membrane;Cytoplasmic vesicle NA PE1 14 +NX_Q9Y221 180 20463 8.66 0 Nucleolus;Nucleolus;Nucleus NA PE1 16 +NX_Q9Y222 760 84471 4.5 0 Nucleus;Nucleus;Nucleoplasm NA PE1 7 +NX_Q9Y223 722 79275 6.32 0 Cytosol;Cytoplasm Nonaka myopathy;Sialuria PE1 9 +NX_Q9Y224 244 28068 6.19 0 Nucleus;Cytosol;Perinuclear region;Centrosome;Nucleoplasm NA PE1 14 +NX_Q9Y225 148 17210 8.88 1 Golgi apparatus membrane;Golgi apparatus NA PE1 20 +NX_Q9Y226 551 60862 7.98 12 Membrane NA PE1 3 +NX_Q9Y227 616 70255 8.55 2 Cytoplasmic vesicle;Autophagosome membrane;Golgi apparatus membrane NA PE1 8 +NX_Q9Y228 551 63626 8.79 1 Membrane;Cytoplasmic vesicle NA PE1 1 +NX_Q9Y230 463 51157 5.49 0 Nucleus;Cytoplasm;Nucleus matrix;Centrosome;Nucleoplasm;Cytoplasm;Membrane;Nucleoplasm;Cytosol NA PE1 19 +NX_Q9Y231 359 42071 7.6 1 Cytoskeleton;Nucleoplasm;Golgi stack membrane;Cytosol;Cytoskeleton NA PE1 6 +NX_Q9Y232 598 66482 9.5 0 Nucleus speckle;Chromosome;Nucleus;Nucleoplasm NA PE1 6 +NX_Q9Y233 779 88412 6.15 0 Cytoplasm Dyskinesia, limb and orofacial, infantile-onset;Striatal degeneration, autosomal dominant 2 PE1 6 +NX_Q9Y234 373 42479 8.66 0 Mitochondrion Lipoyltransferase 1 deficiency PE1 2 +NX_Q9Y235 224 25703 4.81 0 NA NA PE1 6 +NX_Q9Y236 505 56672 7.05 0 Nucleolus NA PE2 8 +NX_Q9Y237 131 13810 9.78 0 Nucleus;Nucleolus;Mitochondrion matrix;Cytoplasm;Mitochondrion;Cytoplasm;Spindle;Nucleolus NA PE1 X +NX_Q9Y238 1755 195684 5.92 0 Cytoplasm;Cytosol Esophageal cancer;Lung cancer PE1 3 +NX_Q9Y239 953 107691 6.71 0 Apical cell membrane;Mitochondrion;Cell membrane;Cytoplasm;Basolateral cell membrane NA PE1 7 +NX_Q9Y240 323 35695 5.06 0 Secreted;Centrosome;Cytoplasm NA PE1 19 +NX_Q9Y241 93 10143 9.79 2 Mitochondrion;Mitochondrion membrane;Mitochondrion;Mitochondrion inner membrane;Nucleoplasm NA PE1 3 +NX_Q9Y242 345 37184 8.71 0 Nucleus NA PE1 6 +NX_Q9Y243 479 55775 5.72 0 Nucleus;Cytoplasm;Cytosol;Membrane;Nucleus;Cytoplasm Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PE1 1 +NX_Q9Y244 141 15789 5.01 0 Cytoplasm;Nucleus;Nucleus speckle;Microsome membrane;Nucleus;Cytosol Keratosis linearis with ichthyosis congenita and sclerosing keratoderma PE1 13 +NX_Q9Y247 325 38709 8.9 0 Nucleoplasm;Cytoskeleton NA PE1 6 +NX_Q9Y248 185 21428 5.29 0 Nucleoplasm;Nucleus NA PE1 16 +NX_Q9Y250 596 66613 6.64 0 Cytoplasm;Cell membrane;Synapse;Cell membrane;Nucleolus;Dendritic spine;Postsynaptic density Esophageal cancer PE1 8 +NX_Q9Y251 543 61149 9.32 0 Lysosome membrane;Nucleoplasm;Cytoplasmic vesicle;Secreted;Nucleus NA PE1 4 +NX_Q9Y252 685 78091 9.16 0 Nucleus;Cytoplasm;Axon;PML body;Nucleus membrane Esophageal cancer PE1 13 +NX_Q9Y253 713 78413 8.74 0 Cytosol;Nucleoplasm;Nucleus Xeroderma pigmentosum variant type PE1 6 +NX_Q9Y255 219 25181 9.56 0 Mitochondrion;Mitochondrion;Mitochondrion intermembrane space;Nucleoplasm NA PE1 5 +NX_Q9Y256 329 35833 8.33 7 Endoplasmic reticulum membrane NA PE1 11 +NX_Q9Y257 313 33747 6.05 4 Cell membrane;Cytosol;Cytoskeleton;Membrane NA PE1 19 +NX_Q9Y258 94 10648 10.22 0 Secreted NA PE1 7 +NX_Q9Y259 395 45271 5.35 0 Cytosol NA PE1 22 +NX_Q9Y261 457 48306 8.82 0 Nucleus;Cytoplasm;Nucleoplasm;Cell junction NA PE1 20 +NX_Q9Y262 564 66727 5.93 0 Nucleus;Cytoplasm;Nucleolus NA PE1 22 +NX_Q9Y263 795 87157 5.96 0 Nucleus;Cytoplasm;Cell membrane;Cytosol;Nucleus;Cytoplasm;Synapse;Nucleoplasm Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies PE1 9 +NX_Q9Y264 503 56849 9.1 0 Secreted NA PE1 20 +NX_Q9Y265 456 50228 6.02 0 Cytosol;Centrosome;Membrane;Cytoplasm;Nucleoplasm;Nucleus matrix;Nucleoplasm NA PE1 3 +NX_Q9Y266 331 38243 5.27 0 Nucleus;Cytosol;Cytoskeleton;Nucleus;Cytoplasm NA PE1 1 +NX_Q9Y267 594 66684 8.71 12 Membrane NA PE2 3 +NX_Q9Y271 337 38541 9.43 7 Cell membrane NA PE1 X +NX_Q9Y272 281 31642 9.15 0 Nucleoplasm;Cell membrane;Cell membrane;Perinuclear region;Nucleus NA PE1 17 +NX_Q9Y274 331 38214 9.13 1 Golgi apparatus membrane NA PE1 3 +NX_Q9Y275 285 31223 5.92 1 Cell membrane;Secreted NA PE1 13 +NX_Q9Y276 419 47534 8.63 1 Cytoplasmic vesicle;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 1;GRACILE syndrome;Bjoernstad syndrome PE1 2 +NX_Q9Y277 283 30659 8.84 0 Mitochondrion outer membrane;Mitochondrion NA PE1 8 +NX_Q9Y278 367 41501 9.93 1 Golgi apparatus membrane NA PE1 16 +NX_Q9Y279 399 43987 5.93 1 Membrane;Nucleolus;Cell membrane;Cytosol NA PE1 X +NX_Q9Y281 166 18737 7.66 0 Nucleus matrix;Nucleoplasm;Cell membrane;Cytosol;Cytoskeleton Nemaline myopathy 7 PE1 14 +NX_Q9Y282 383 43222 5.68 2 Nucleoplasm;Endoplasmic reticulum-Golgi intermediate compartment membrane;cis-Golgi network membrane;Endoplasmic reticulum membrane NA PE1 20 +NX_Q9Y283 1065 117826 9.43 0 Cytoplasm;Cytoskeleton;Cytosol;Nucleus;Cilium;Spindle;Membrane Nephronophthisis 2 PE1 9 +NX_Q9Y284 106 12068 8.41 2 Membrane;Endoplasmic reticulum NA PE1 19 +NX_Q9Y285 508 57564 7.31 0 Cytosol;Cytoplasm NA PE1 19 +NX_Q9Y286 467 51143 6.89 1 Membrane NA PE1 19 +NX_Q9Y287 266 30338 5 1 Golgi apparatus membrane;Secreted;Secreted;Endosome membrane;Golgi apparatus;Cytoplasmic vesicle;Cell membrane Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities;Cerebral amyloid angiopathy, ITM2B-related 2;Cerebral amyloid angiopathy, ITM2B-related 1 PE1 13 +NX_Q9Y289 635 68642 8.61 13 Membrane;Cell junction NA PE1 2 +NX_Q9Y291 106 12629 10.11 0 Mitochondrion NA PE1 7 +NX_Q9Y294 204 22969 4.29 0 Nucleus;Nucleus;Nucleus NA PE1 6 +NX_Q9Y295 367 40542 9 0 Cytosol;Cytoplasm;Nucleus NA PE1 22 +NX_Q9Y296 219 24340 5.84 0 Cytosol;cis-Golgi network;Endoplasmic reticulum NA PE1 11 +NX_Q9Y297 605 68867 8.3 0 Cytoplasm;Nucleus;Nucleoplasm;Cell membrane;Cytosol NA PE1 10 +NX_Q9Y2A0 90 10275 10.04 0 NA NA PE2 7 +NX_Q9Y2A4 671 77516 9.3 0 Nucleus NA PE1 19 +NX_Q9Y2A7 1128 128790 6.18 1 Cytosol;Cell membrane;Lamellipodium membrane NA PE1 2 +NX_Q9Y2A9 372 42534 8.96 1 Golgi apparatus membrane NA PE1 19 +NX_Q9Y2B0 182 20652 4.81 0 Endoplasmic reticulum;Cytosol NA PE1 12 +NX_Q9Y2B1 443 51146 8.57 1 Golgi apparatus;Nucleoplasm;Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 PE1 12 +NX_Q9Y2B2 252 28531 8.28 1 Nucleoplasm;Endoplasmic reticulum membrane;Cytosol Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome PE1 17 +NX_Q9Y2B4 290 34019 10.56 0 Cytoplasm;Nucleus NA PE1 20 +NX_Q9Y2B5 631 68956 7.1 0 Cytosol;Nucleoplasm NA PE1 16 +NX_Q9Y2B9 76 7910 4.11 0 Cytosol;Nucleoplasm NA PE1 20 +NX_Q9Y2C2 406 47673 8.88 1 Mitochondrion;Golgi apparatus membrane NA PE1 6 +NX_Q9Y2C3 310 36189 9.03 1 Golgi apparatus membrane NA PE1 21 +NX_Q9Y2C4 368 41085 8.45 0 Mitochondrion inner membrane NA PE1 3 +NX_Q9Y2C5 497 54055 7.45 10 Apical cell membrane;Cell membrane NA PE2 6 +NX_Q9Y2C9 796 91880 6.83 1 Endoplasmic reticulum;Golgi apparatus;Cell membrane;Phagosome membrane;Membrane raft NA PE1 4 +NX_Q9Y2D0 317 36434 7.7 0 Mitochondrion;Mitochondrion NA PE1 X +NX_Q9Y2D1 282 30674 4.9 0 Cytosol;Cytoplasm;Nucleus;Centrosome;Nucleoplasm NA PE1 19 +NX_Q9Y2D2 325 35985 9.22 8 Golgi apparatus membrane Arthrogryposis, mental retardation, and seizures PE1 1 +NX_Q9Y2D4 811 94201 6.03 0 Cytosol;Nucleoplasm;Nucleus NA PE1 2 +NX_Q9Y2D5 859 94661 5.04 0 NA NA PE1 9 +NX_Q9Y2D8 614 71236 6.03 0 Cytoplasm;Adherens junction;Nucleus;Centriolar satellite;Cell junction;Cilium basal body NA PE1 1 +NX_Q9Y2D9 606 69744 8.92 0 Nucleus;Nucleus NA PE1 17 +NX_Q9Y2E4 1556 170767 7.12 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol NA PE1 10 +NX_Q9Y2E5 1009 113979 6.74 0 Secreted NA PE1 4 +NX_Q9Y2E6 619 67258 9.65 0 Cytoplasm;Cytoplasmic vesicle NA PE1 11 +NX_Q9Y2E8 581 65422 6.07 11 Golgi apparatus membrane NA PE1 20 +NX_Q9Y2F5 2266 247891 5.32 0 Nucleus;Nucleoplasm;Cajal body;Nucleus NA PE1 5 +NX_Q9Y2F9 522 58420 7.42 0 Cytosol;Nucleus;Cytoplasmic vesicle NA PE1 20 +NX_Q9Y2G0 817 92487 6.26 0 Nucleus;Cell membrane;Cytosol NA PE1 2 +NX_Q9Y2G1 1151 124397 7.06 1 Nucleoplasm;Endoplasmic reticulum membrane;Cytosol;Endoplasmic reticulum membrane;Nucleus;Cytoplasm NA PE1 11 +NX_Q9Y2G2 431 48933 5.1 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA PE1 19 +NX_Q9Y2G3 1177 134190 6.52 10 Cytosol;Microtubule organizing center;Endoplasmic reticulum;trans-Golgi network;Recycling endosome membrane;Early endosome NA PE1 3 +NX_Q9Y2G4 727 79971 9.42 0 Cytoplasmic vesicle NA PE1 6 +NX_Q9Y2G5 429 49976 6.15 0 Endoplasmic reticulum;Golgi apparatus NA PE1 21 +NX_Q9Y2G7 519 61558 9.16 0 Cytosol;Nucleus NA PE1 19 +NX_Q9Y2G8 782 90591 6.67 1 Membrane;Cytoplasmic vesicle NA PE1 1 +NX_Q9Y2G9 1366 150275 6.09 0 NA NA PE1 19 +NX_Q9Y2H0 992 108012 6.65 0 Cytoplasm;Cell membrane;Focal adhesion;Cytosol;Nucleoplasm;Membrane NA PE1 20 +NX_Q9Y2H1 464 54003 6.36 0 Cytoplasm;Cytoskeleton;Membrane NA PE1 12 +NX_Q9Y2H2 1132 128407 6.57 0 Recycling endosome;Early endosome;Clathrin-coated pit NA PE1 10 +NX_Q9Y2H5 1048 117128 9.15 0 Microtubule organizing center;Cell junction;Cytoplasmic vesicle NA PE1 1 +NX_Q9Y2H6 1198 131852 6.29 1 Endoplasmic reticulum;Golgi apparatus membrane NA PE1 13 +NX_Q9Y2H8 683 79142 9.18 0 Cell membrane;Nucleoplasm;Nucleus NA PE1 9 +NX_Q9Y2H9 1570 170677 8.67 0 Cytoplasmic vesicle;Cell membrane;Cytoskeleton NA PE1 19 +NX_Q9Y2I1 1504 166629 5.04 0 Recycling endosome;Early endosome;Cell membrane;Cytoplasm NA PE1 3 +NX_Q9Y2I2 539 60541 5.84 0 Cell membrane;Cell membrane NA PE1 1 +NX_Q9Y2I6 1382 156344 5.01 0 Cytoskeleton;Cytoplasm;Cytosol;Centrosome NA PE1 20 +NX_Q9Y2I7 2098 237136 6.24 0 Endosome membrane;Nucleus speckle Corneal dystrophy, fleck PE1 2 +NX_Q9Y2I8 494 54665 6.79 0 Cytoplasm;Cytosol;Cytoskeleton;Centrosome NA PE1 10 +NX_Q9Y2I9 924 102743 8.57 0 Cytosol;Cell membrane;Cell membrane NA PE1 12 +NX_Q9Y2J0 694 76872 8.62 0 Membrane;Synapse NA PE1 12 +NX_Q9Y2J2 1087 120678 5.09 0 Cell membrane;Cytoskeleton;Cell junction;Cell membrane;Cytoplasm NA PE1 18 +NX_Q9Y2J4 779 85764 6.81 0 Recycling endosome;Centrosome;Cell junction NA PE1 3 +NX_Q9Y2J8 665 75564 5.4 0 Cytoplasm NA PE1 1 +NX_Q9Y2K1 713 82016 5.97 0 Nucleoplasm;Nucleus membrane;Nucleus;Nucleoplasm NA PE1 14 +NX_Q9Y2K2 1263 139980 6.22 0 Cytoplasm;Nucleoplasm NA PE1 11 +NX_Q9Y2K3 1946 224619 5.67 0 Centrosome;Myofibril;Nucleoplasm;Mitochondrion NA PE1 3 +NX_Q9Y2K5 976 106999 8.99 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q9Y2K6 914 102003 5.75 0 Cytosol;Centrosome;Perinuclear region;Cell membrane;Nucleus NA PE1 9 +NX_Q9Y2K7 1162 132793 7.73 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q9Y2K9 1186 131887 6.51 0 Cytoplasm;Membrane;Cell membrane NA PE1 3 +NX_Q9Y2L1 958 109003 6.69 0 Nucleus;Cytosol;Cytoplasm;Nucleolus;Nucleoplasm;Nucleus NA PE1 13 +NX_Q9Y2L5 1435 160997 6.41 0 Nucleus;Cytoplasm;Cytoskeleton;cis-Golgi network;Cytosol NA PE1 18 +NX_Q9Y2L6 1034 118047 8.79 0 Cytoskeleton;Adherens junction;Tight junction NA PE1 3 +NX_Q9Y2L8 839 96903 7.43 0 Cytoskeleton;Nucleus NA PE1 7 +NX_Q9Y2L9 728 80875 5.59 0 Cytoskeleton;Cytoplasm;Nucleolus;Cytosol NA PE1 13 +NX_Q9Y2M0 1017 114225 7.1 0 Nucleoplasm;Nucleus;Cytoskeleton;Cytosol Interstitial nephritis, karyomegalic PE1 15 +NX_Q9Y2M2 353 39845 9.26 0 Cytoplasm;Nucleus NA PE1 3 +NX_Q9Y2M5 609 67955 6.45 0 Axon;Cytosol;Dendrite;trans-Golgi network;Nucleus;Perinuclear region;Golgi apparatus NA PE1 1 +NX_Q9Y2N7 669 72433 5.67 0 Cell membrane;Cytosol;Cytoplasm;Nucleus;Nucleoplasm;Nucleus speckle;Mitochondrion NA PE1 19 +NX_Q9Y2P0 537 59631 8.88 0 Nucleus;Cytoskeleton NA PE1 19 +NX_Q9Y2P4 619 70112 8.75 2 Nucleus;Sarcolemma;Membrane NA PE1 5 +NX_Q9Y2P5 690 75385 7.8 2 Endoplasmic reticulum membrane NA PE1 19 +NX_Q9Y2P7 627 71871 9.12 0 Nucleus;Nucleus NA PE1 19 +NX_Q9Y2P8 373 40843 9.36 0 Nucleoplasm;Nucleolus NA PE1 9 +NX_Q9Y2Q0 1164 131369 6.41 10 Cytoplasmic granule;Chromaffin granule membrane;Golgi apparatus;Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane NA PE1 4 +NX_Q9Y2Q1 563 65779 9.23 0 Nucleus NA PE1 19 +NX_Q9Y2Q3 226 25497 8.51 0 Nucleus;Cytoplasm;Peroxisome;Peroxisome NA PE1 7 +NX_Q9Y2Q5 125 13508 5.3 0 Cytoplasm;Cytoplasmic vesicle;Lysosome membrane;Late endosome membrane;Nucleoplasm Immunodeficiency due to defect in MAPBP-interacting protein PE1 1 +NX_Q9Y2Q9 187 20843 9.22 0 Mitochondrion;Mitochondrion NA PE1 8 +NX_Q9Y2R0 106 11731 9.59 1 Mitochondrion;Mitochondrion inner membrane NA PE1 17 +NX_Q9Y2R2 807 91705 7.5 0 Nucleoplasm;Cytoplasmic vesicle;Cytoplasm;Cell membrane Rheumatoid arthritis;Systemic lupus erythematosus;Vitiligo;Diabetes mellitus, insulin-dependent PE1 1 +NX_Q9Y2R4 599 67498 9.69 0 Nucleolus;Nucleolus;Nucleus NA PE1 17 +NX_Q9Y2R5 130 14502 9.87 0 Mitochondrion NA PE1 7 +NX_Q9Y2R9 242 28134 10 0 Mitochondrion;Mitochondrion NA PE1 17 +NX_Q9Y2S2 319 35419 5.81 0 Cell membrane;Golgi apparatus;Cytoplasm;Nucleolus;Nucleus NA PE1 13 +NX_Q9Y2S6 64 7066 10 0 Nucleolus;Nucleus;Nucleus NA PE1 3 +NX_Q9Y2S7 368 42033 8.8 0 Mitochondrion;Nucleus;Mitochondrion NA PE1 17 +NX_Q9Y2T1 843 93558 7.82 0 Cytoplasm;Nucleus;Cytosol;Cell membrane Colorectal cancer;Oligodontia-colorectal cancer syndrome PE1 17 +NX_Q9Y2T2 418 46939 6.47 0 Golgi apparatus;Cytoplasmic vesicle membrane NA PE1 10 +NX_Q9Y2T3 454 51003 5.44 0 Nucleus NA PE1 9 +NX_Q9Y2T4 447 51515 5.92 0 NA NA PE1 4 +NX_Q9Y2T5 361 41354 8.45 7 Cell membrane NA PE2 1 +NX_Q9Y2T6 319 36637 8.8 7 Cell membrane NA PE1 2 +NX_Q9Y2T7 364 38518 10.8 0 Nucleus;Cytoplasm;Nucleolus NA PE1 17 +NX_Q9Y2U2 307 31947 6.7 4 Membrane;Cell membrane NA PE2 11 +NX_Q9Y2U5 619 69741 8.04 0 Nucleus;Cytosol;Cytoplasm;Nucleoplasm NA PE1 2 +NX_Q9Y2U8 911 99997 7.32 2 Nucleus membrane;Nucleus inner membrane Melorheostosis;Buschke-Ollendorff syndrome PE1 12 +NX_Q9Y2U9 406 46099 6.13 0 Nucleoplasm;Nucleus;Nucleus;Nucleus membrane NA PE1 14 +NX_Q9Y2V0 281 32264 6.15 0 Nucleoplasm Anemia, congenital dyserythropoietic, 1B PE1 15 +NX_Q9Y2V2 147 15892 8.41 0 Cytoplasm;P-body;Cytoplasmic granule NA PE1 16 +NX_Q9Y2V3 346 36676 9.11 0 Nucleus Microphthalmia, isolated, 3 PE1 18 +NX_Q9Y2V7 657 73279 5.51 0 Golgi apparatus membrane;Nucleus speckle;Golgi apparatus Congenital disorder of glycosylation 2L;Shaheen syndrome PE1 13 +NX_Q9Y2W1 955 108666 10.16 0 Nucleus;Nucleoplasm;Nucleus speckle;Nucleus speckle NA PE1 1 +NX_Q9Y2W2 641 69998 8.28 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 12 +NX_Q9Y2W3 782 84541 8.01 12 Membrane Intellectual developmental disorder with neuropsychiatric features PE1 1 +NX_Q9Y2W6 561 62046 4.91 0 Cytosol;Cytoplasm;Centrosome;Mitochondrion NA PE1 1 +NX_Q9Y2W7 256 29231 5.23 0 Cytoplasm;Cell membrane;Endoplasmic reticulum;Golgi apparatus;Nucleus NA PE1 2 +NX_Q9Y2X0 877 96793 7.12 0 Nucleus;Nucleolus NA PE1 19 +NX_Q9Y2X3 529 59578 9.03 0 Nucleolus;Nucleus;Nucleolus;Nucleoplasm NA PE1 2 +NX_Q9Y2X7 761 84341 6.33 0 Cytoplasm;Cytosol;Focal adhesion NA PE1 17 +NX_Q9Y2X8 147 16649 6.88 0 NA NA PE1 7 +NX_Q9Y2X9 895 96915 8.71 0 Nucleus;Nucleoplasm NA PE1 1 +NX_Q9Y2Y0 163 18822 4.23 0 Mitochondrion intermembrane space;Cilium basal body;Spindle;Centrosome;Nucleus;Cytoplasm Retinitis pigmentosa with or without situs inversus PE1 16 +NX_Q9Y2Y1 108 12336 8.05 0 Nucleus;Nucleolus;Cytosol NA PE1 16 +NX_Q9Y2Y4 487 52963 9.36 0 Nucleus NA PE1 19 +NX_Q9Y2Y6 226 24611 4.81 1 Endosome;Membrane;Nucleoplasm Nanophthalmos 4 PE1 17 +NX_Q9Y2Y8 225 25406 4.69 0 Cytoplasmic granule NA PE1 11 +NX_Q9Y2Y9 288 31180 9.63 0 Nucleus NA PE1 15 +NX_Q9Y2Z0 365 41024 5.07 0 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane;Nucleus NA PE1 13 +NX_Q9Y2Z2 717 79964 8.59 0 Cytosol;Mitochondrion;Nucleoplasm Combined oxidative phosphorylation deficiency 10 PE1 6 +NX_Q9Y2Z4 477 53199 9.07 0 Mitochondrion;Nucleus;Mitochondrion;Mitochondrion matrix Myopathy with lactic acidosis and sideroblastic anemia 2 PE1 12 +NX_Q9Y2Z9 468 50870 6.81 0 Cell projection;Golgi apparatus;Mitochondrion inner membrane Coenzyme Q10 deficiency, primary, 6 PE1 14 +NX_Q9Y303 409 43748 6.21 0 Cytosol;Nucleolus NA PE1 16 +NX_Q9Y305 439 49902 8.81 0 Cytosol;Mitochondrion;Nucleoplasm;Cell membrane NA PE1 X +NX_Q9Y312 384 43472 5.66 0 Cytosol NA PE1 20 +NX_Q9Y314 301 33172 9.05 0 Cytoplasm;Nucleus;Nucleus NA PE1 19 +NX_Q9Y315 318 35231 9.08 0 Cytoplasm;Cytoplasmic granule;Nucleus;Nucleus NA PE1 12 +NX_Q9Y316 297 33733 6.66 0 Cytoplasmic vesicle NA PE1 2 +NX_Q9Y320 296 34038 8.9 1 Cytosol;Nucleoplasm;Membrane NA PE1 11 +NX_Q9Y324 198 23370 9.74 0 Nucleolus;Nucleoplasm NA PE1 14 +NX_Q9Y328 171 19085 9.42 1 Golgi apparatus;Cytoplasmic vesicle membrane;Golgi stack membrane;Multivesicular body membrane NA PE1 5 +NX_Q9Y330 459 49148 7.26 0 Nucleus NA PE1 6 +NX_Q9Y333 95 10835 6.05 0 Nucleus;Nucleus NA PE1 6 +NX_Q9Y334 891 96060 5.74 0 Secreted;Cell membrane;Cytosol NA PE1 6 +NX_Q9Y336 463 50082 6.86 1 Membrane NA PE1 19 +NX_Q9Y337 293 32020 8.64 0 Secreted NA PE1 19 +NX_Q9Y342 182 19987 9.43 4 Membrane NA PE1 16 +NX_Q9Y343 169 19818 6.71 0 Cytoplasmic vesicle membrane;Cytoplasmic vesicle NA PE1 5 +NX_Q9Y345 797 87434 7.68 12 Cell membrane Hyperekplexia 3 PE1 11 +NX_Q9Y365 291 33049 6.67 0 Flagellum;Cytoplasm;Membrane NA PE1 11 +NX_Q9Y366 437 49706 5.14 0 Cilium;Cytosol Short-rib thoracic dysplasia 16 with or without polydactyly PE1 20 +NX_Q9Y371 365 40796 5.78 0 Cytoplasm;Cytosol;Midbody;Cytoplasm;Golgi apparatus membrane;Mitochondrion outer membrane;Autophagosome membrane NA PE1 1 +NX_Q9Y375 327 37764 7.11 0 Mitochondrion;Cytosol NA PE1 15 +NX_Q9Y376 341 39869 6.43 0 Cytoplasm;Cytoplasm;Cytosol;Nucleolus NA PE1 2 +NX_Q9Y383 392 46514 10.02 0 Nucleus;Nucleoplasm;Nucleus speckle NA PE1 7 +NX_Q9Y385 318 35199 6.26 1 Endoplasmic reticulum membrane NA PE1 6 +NX_Q9Y388 322 37336 9.84 0 Nucleolus;Nucleus membrane NA PE1 X +NX_Q9Y394 339 38299 8.59 0 Mitochondrion;Nucleoplasm NA PE1 14 +NX_Q9Y397 364 40916 8.12 4 Endoplasmic reticulum membrane;Golgi apparatus;Cytosol;Golgi apparatus membrane Mental retardation, X-linked, syndromic, ZDHHC9-related PE1 X +NX_Q9Y399 296 33249 9.37 0 Mitochondrion;Mitochondrion NA PE1 9 +NX_Q9Y3A0 265 29657 9.29 0 Mitochondrion;Mitochondrion inner membrane Coenzyme Q10 deficiency, primary, 7 PE1 9 +NX_Q9Y3A2 253 30447 10.16 0 Nucleolus;Nucleus NA PE1 1 +NX_Q9Y3A3 225 26032 5.5 0 Golgi apparatus;Membrane;Golgi stack membrane;Perinuclear region NA PE1 2 +NX_Q9Y3A4 280 32334 9.61 0 NA NA PE1 22 +NX_Q9Y3A5 250 28764 8.91 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus;Spindle Shwachman-Diamond syndrome PE1 7 +NX_Q9Y3A6 229 26005 4.71 1 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 1 +NX_Q9Y3B1 194 21495 6.24 0 Nucleus NA PE1 20 +NX_Q9Y3B2 195 21452 8.51 0 Nucleolus;Nucleus;Cytoplasm;Nucleoplasm;Nucleus NA PE1 10 +NX_Q9Y3B3 224 25172 6.43 1 COPII-coated vesicle membrane;COPI-coated vesicle membrane;Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 5 +NX_Q9Y3B4 125 14585 9.41 0 Nucleus;Nucleoplasm;Nucleus NA PE1 2 +NX_Q9Y3B6 208 23061 5.53 0 Cytoplasm;Golgi apparatus NA PE1 14 +NX_Q9Y3B7 192 20683 9.91 0 Mitochondrion;Mitochondrion NA PE1 11 +NX_Q9Y3B8 237 26833 6.4 0 Nucleus;Focal adhesion;Cytoplasm;Nucleus;Mitochondrion matrix;Mitochondrion intermembrane space;Mitochondrion;Nucleolus NA PE1 11 +NX_Q9Y3B9 282 31484 5.39 0 Cytoplasm;Nucleolus;Nucleus;Mitochondrion NA PE1 1 +NX_Q9Y3C0 194 21173 4.35 0 Cytoplasmic vesicle;Early endosome NA PE1 12 +NX_Q9Y3C1 178 21188 9.94 0 Nucleolus;Nucleolus NA PE1 5 +NX_Q9Y3C4 175 19661 6.31 0 Cytosol;Nucleus;Cytoplasm NA PE1 2 +NX_Q9Y3C5 154 17444 4.64 0 Recycling endosome;Cytoplasm;Nucleus;Early endosome NA PE1 1 +NX_Q9Y3C6 166 18237 7.78 0 Nucleolus NA PE1 6 +NX_Q9Y3C7 131 15805 8.72 0 Nucleus;Nucleus NA PE1 17 +NX_Q9Y3C8 167 19458 6.91 0 Nucleus speckle;Cytosol NA PE1 1 +NX_Q9Y3D0 163 17663 5.07 0 Nucleoplasm;Cytosol;Nucleus;Spindle NA PE1 16 +NX_Q9Y3D2 182 19536 8.95 0 Mitochondrion NA PE1 10 +NX_Q9Y3D3 137 15345 9.59 0 Cytosol;Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 2 PE1 10 +NX_Q9Y3D5 142 15850 9.63 0 Mitochondrion NA PE1 4 +NX_Q9Y3D6 152 16938 8.84 1 Mitochondrion outer membrane;Mitochondrion;Peroxisome membrane NA PE1 7 +NX_Q9Y3D7 125 13825 9.69 0 Mitochondrion inner membrane Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type PE1 16 +NX_Q9Y3D8 172 20061 4.48 0 Nucleoplasm;Cajal body;Nucleoplasm NA PE1 5 +NX_Q9Y3D9 190 21771 8.94 0 Mitochondrion;Nucleus membrane;Mitochondrion NA PE1 17 +NX_Q9Y3E0 138 15426 10.36 4 Endoplasmic reticulum;Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 12 +NX_Q9Y3E1 203 22620 7.7 0 Nucleus;Nucleoplasm NA PE1 15 +NX_Q9Y3E2 137 14289 7.82 0 Mitochondrion NA PE1 1 +NX_Q9Y3E5 179 19194 8.95 0 Mitochondrion;Mitochondrion Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset PE1 17 +NX_Q9Y3E7 222 25073 5.1 0 Cytosol;Membrane;Endosome;Late endosome membrane NA PE1 2 +NX_Q9Y3F1 56 6535 4.49 0 NA NA PE5 6 +NX_Q9Y3F4 350 38438 4.98 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA PE1 12 +NX_Q9Y3I0 505 55210 6.77 0 Cytosol;Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytoplasm NA PE1 22 +NX_Q9Y3I1 522 58503 6.11 0 Cytoplasm;Nucleus;Cytosol;Cytosol;Nucleus;Cytoplasm;Nucleus;Mitochondrion Parkinson disease 15 PE1 22 +NX_Q9Y3L3 701 75713 6.33 0 Cytosol;Adherens junction;Phagocytic cup;Nucleus;Cytosol;Cell projection;Tight junction NA PE1 22 +NX_Q9Y3L5 183 20745 4.87 0 Recycling endosome membrane;Cytoplasm NA PE1 X +NX_Q9Y3M2 126 14470 9.09 0 Cilium basal body;trans-Golgi network;Nucleus speckle;Centriole;Golgi apparatus NA PE1 22 +NX_Q9Y3M8 1113 124967 6.57 0 Cytoplasm;Lipid droplet;Mitochondrion membrane;Membrane;Cytosol;Nucleolus;Nucleus membrane NA PE1 13 +NX_Q9Y3M9 751 86875 9.74 0 Nucleus speckle;Cell membrane;Nucleus NA PE1 20 +NX_Q9Y3N9 320 36101 9.24 7 Cell membrane NA PE2 6 +NX_Q9Y3P4 386 40484 6.1 5 Cytoskeleton;Membrane NA PE1 22 +NX_Q9Y3P8 196 21126 5.91 1 Cell membrane NA PE1 9 +NX_Q9Y3P9 1069 121737 5.15 0 Cytosol;Cytosol;Centrosome NA PE1 9 +NX_Q9Y3Q0 740 83592 8.56 1 Nucleus;Cell membrane NA PE1 11 +NX_Q9Y3Q3 217 24777 5.4 1 cis-Golgi network membrane;Golgi stack membrane;Endoplasmic reticulum membrane;Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment membrane;COPI-coated vesicle membrane NA PE1 15 +NX_Q9Y3Q4 1203 129042 9.07 6 Cell membrane Sick sinus syndrome 2;Brugada syndrome 8 PE1 15 +NX_Q9Y3Q7 739 82856 7.16 1 Membrane NA PE1 8 +NX_Q9Y3Q8 395 41026 6.69 0 Nucleus;Cytosol NA PE1 7 +NX_Q9Y3R0 1128 122422 6.03 0 Cytoplasmic vesicle;Endoplasmic reticulum;Postsynaptic cell membrane Fraser syndrome PE1 12 +NX_Q9Y3R4 380 42254 6.39 0 Cytoplasm NA PE1 2 +NX_Q9Y3R5 2298 258230 5.9 0 Nucleoplasm;Mitochondrion NA PE1 21 +NX_Q9Y3S1 2297 242676 5.79 0 Cell membrane;Cytosol;Cytoplasm NA PE1 9 +NX_Q9Y3S2 320 36201 5.79 0 Nucleus;Nucleolus;Centromere;Nucleolus NA PE1 4 +NX_Q9Y3T6 440 49092 5.47 0 Cytosol;Nucleoplasm NA PE1 8 +NX_Q9Y3T9 749 84919 5.46 0 Nucleus;Nucleolus;Nucleoplasm;Nucleolus NA PE1 1 +NX_Q9Y3U8 105 12254 11.59 0 Nucleus;Nucleolus;Cytoplasm;Endoplasmic reticulum;Cytosol NA PE1 19 +NX_Q9Y3V2 267 30543 5.81 0 Nucleus;Cytoplasm;Nucleus;Cytoplasm NA PE1 1 +NX_Q9Y3X0 531 59703 5.32 0 Cytoplasm;Cytosol NA PE1 19 +NX_Q9Y3Y2 248 26397 12.24 0 Nucleus speckle;Nucleus;Nucleus speckle;Nucleolus;Nucleoplasm NA PE1 1 +NX_Q9Y3Y4 419 45116 6.38 0 Cytosol;Nucleoplasm;Nucleus NA PE1 15 +NX_Q9Y3Z3 626 72201 6.69 0 Nucleus;Nucleoplasm;Cell membrane;Nucleus Chilblain lupus 2;Aicardi-Goutieres syndrome 5 PE1 20 +NX_Q9Y421 112 13178 9.99 0 Nucleus;Nucleus;Nucleolus;Nucleus NA PE1 19 +NX_Q9Y426 696 75533 6.47 1 Membrane;Nucleoplasm NA PE1 21 +NX_Q9Y442 160 17735 8.46 1 Membrane NA PE2 22 +NX_Q9Y446 797 87082 9.39 0 Nucleoplasm;Cytosol;Desmosome;Cell junction;Nucleus NA PE1 11 +NX_Q9Y448 316 35438 5.98 0 Kinetochore;Cytosol;Nucleus;Cytoskeleton;Spindle pole NA PE1 15 +NX_Q9Y450 684 75473 6.17 0 Nucleus;Cytosol NA PE1 6 +NX_Q9Y458 520 57910 6.92 0 Nucleus Abruzzo-Erickson syndrome;Cleft palate with or without ankyloglossia, X-linked PE1 X +NX_Q9Y462 761 86245 6.4 0 Nucleoplasm;Nucleus Mental retardation, X-linked 97 PE1 X +NX_Q9Y463 629 69198 9.25 0 Nucleus;Nucleus Abdominal obesity-metabolic syndrome 3 PE1 19 +NX_Q9Y466 385 42589 9.18 0 Nucleus;Nucleus NA PE1 6 +NX_Q9Y467 1007 105309 5.89 0 Nucleus;Nucleus;Cytoplasmic vesicle Coloboma, ocular, autosomal recessive PE1 14 +NX_Q9Y468 752 83884 5.6 0 Nucleus;Cell membrane;Nucleus NA PE1 20 +NX_Q9Y471 501 58380 5.96 0 Cytoplasm NA PE1 6 +NX_Q9Y473 711 81609 8.98 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm;Cytoskeleton NA PE1 19 +NX_Q9Y478 270 30382 5.94 0 Nucleoplasm;Cytosol NA PE1 12 +NX_Q9Y483 593 67106 8.98 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q9Y484 360 39868 6.74 0 Nucleolus Neurodegeneration with brain iron accumulation 5 PE1 X +NX_Q9Y485 3027 337839 5.91 0 Cytosol;Nucleolus NA PE1 5 +NX_Q9Y487 856 98082 6.18 8 Cell membrane;Cell membrane;Endosome membrane;Cytosol Cutis laxa, autosomal recessive, 2A;Wrinkly skin syndrome PE1 12 +NX_Q9Y490 2541 269767 5.77 0 Microtubule organizing center;Cytosol;Cell membrane;Focal adhesion;Ruffle membrane;Cytoskeleton;Cell surface;Focal adhesion NA PE1 9 +NX_Q9Y493 2812 305663 5.77 1 Cell membrane NA PE2 7 +NX_Q9Y496 699 80041 6.16 0 Cytoskeleton;Cytoskeleton;Cilium;Centriole;Nucleoplasm;Cytosol NA PE1 5 +NX_Q9Y4A0 524 59912 8.26 0 Nucleus;Cytoplasmic vesicle NA PE1 11 +NX_Q9Y4A5 3859 437600 8.49 0 Golgi apparatus;Nucleoplasm;Nucleus NA PE1 7 +NX_Q9Y4A8 694 76154 5.21 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA PE1 7 +NX_Q9Y4A9 318 35254 9.07 7 Cell membrane NA PE2 19 +NX_Q9Y4B4 1467 162769 5.75 0 Nucleus;Nucleus;Cytosol NA PE1 3 +NX_Q9Y4B5 1905 209526 6.03 0 Spindle pole;Midbody;Nucleoplasm;Cytoskeleton;Cytoskeleton;Lateral cell membrane;Apical cell membrane NA PE1 18 +NX_Q9Y4B6 1507 169007 4.92 0 Cytoplasm;Nucleus;Nucleolus;Nucleus NA PE1 3 +NX_Q9Y4C0 1643 180599 5.33 1 Membrane NA PE1 14 +NX_Q9Y4C1 1321 147341 8.4 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 2 +NX_Q9Y4C2 921 102126 6.12 0 Cell membrane;Nucleoplasm;Mitochondrion NA PE1 7 +NX_Q9Y4C4 1052 116950 8.02 0 Cytosol;Nucleoplasm NA PE1 8 +NX_Q9Y4C5 530 57857 10 1 trans-Golgi network membrane;Golgi apparatus NA PE1 3 +NX_Q9Y4C8 960 107332 6.13 0 Nucleolus;Nucleoplasm;Cytoplasm;Chromosome;Nucleolus NA PE1 12 +NX_Q9Y4D1 1078 123473 6.81 0 Cilium basal body;Cytoplasm;Cell membrane;Cytosol NA PE1 14 +NX_Q9Y4D2 1042 114952 5.95 4 Cell membrane Spinocerebellar ataxia 20 PE1 11 +NX_Q9Y4D7 1925 212007 6.8 1 Lamellipodium membrane;Cell membrane NA PE1 3 +NX_Q9Y4D8 3996 439344 5.82 1 Nucleoplasm;Cytoplasmic vesicle;Membrane NA PE1 12 +NX_Q9Y4E1 1318 144668 4.67 0 Cell membrane;Early endosome membrane NA PE1 10 +NX_Q9Y4E5 1061 121484 6.3 0 Nucleus;PML body;Nucleoplasm;Nucleus NA PE1 6 +NX_Q9Y4E6 1490 163810 6.47 0 Nucleoplasm;Cytosol NA PE1 18 +NX_Q9Y4E8 981 112419 5.06 0 Cytosol;Mitochondrion;Cytoplasm;Nucleus NA PE1 12 +NX_Q9Y4F1 1045 118633 8.33 0 Cytosol;Cell membrane;Synapse;Synaptosome;Cytosol;Filopodium;Dendrite;Dendritic spine NA PE1 13 +NX_Q9Y4F3 1742 192859 8.14 0 Cytoplasmic vesicle;Golgi apparatus;Peroxisome NA PE1 16 +NX_Q9Y4F4 1720 189360 8.73 0 Nucleoplasm;Cilium;Cytoskeleton NA PE1 14 +NX_Q9Y4F5 1589 171688 6.39 0 Cytosol;Centrosome;Cytoskeleton NA PE1 14 +NX_Q9Y4F9 1068 118519 5.29 0 Apical cell membrane;Stereocilium membrane;Stereocilium;Filopodium;Cytoskeleton;Cytoplasm Deafness, autosomal recessive, 104 PE1 6 +NX_Q9Y4G2 1056 117443 6.08 0 Nucleolus;Cytoplasmic vesicle;Cytoplasm;Endosome membrane;Lysosome;Lysosome membrane Osteopetrosis, autosomal recessive 6 PE1 17 +NX_Q9Y4G6 2542 271613 5.4 0 Cytoplasm;Focal adhesion;Synapse;Cytosol;Focal adhesion;Cytoplasm;Cell membrane;Cytoskeleton NA PE1 15 +NX_Q9Y4G8 1499 167417 6.21 0 Centrosome;Nucleoplasm;Cytoplasm;Perinuclear region;Cell junction;Late endosome;Cell membrane NA PE1 4 +NX_Q9Y4H2 1338 137334 8.9 0 Cytosol;Cytosol NA PE1 13 +NX_Q9Y4H4 160 17866 4.95 0 Cytoplasm NA PE1 6 +NX_Q9Y4I1 1855 215405 8.7 0 Microtubule organizing center;Focal adhesion Elejalde syndrome;Griscelli syndrome 3;Griscelli syndrome 1 PE1 15 +NX_Q9Y4I5 508 55025 5.5 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 11 +NX_Q9Y4J8 743 83901 6.43 0 Nucleoplasm;Cytoskeleton;Cell junction;Cell membrane;Synapse;Cytoplasm Left ventricular non-compaction 1 PE1 18 +NX_Q9Y4K0 774 86725 5.95 0 Cytoplasm;Endoplasmic reticulum;Nucleus;Chromosome;Nucleoplasm;Basement membrane NA PE1 8 +NX_Q9Y4K1 1723 188676 5.61 0 Cytosol;Nucleus;Cytoskeleton NA PE1 6 +NX_Q9Y4K3 522 59573 6 0 Cytoplasm;Cell cortex;Nucleus;Lipid droplet;Nucleolus;Mitochondrion NA PE1 11 +NX_Q9Y4K4 846 95040 7.56 0 Cell membrane;Cytosol;Cytoplasm NA PE1 14 +NX_Q9Y4L1 999 111335 5.16 0 Endoplasmic reticulum lumen NA PE1 11 +NX_Q9Y4L5 304 33703 5.39 0 Cytosol;Mitochondrion;Nucleolus NA PE1 1 +NX_Q9Y4M8 146 16018 11.24 0 NA NA PE5 8 +NX_Q9Y4P1 393 44294 4.91 0 Nucleus;Cytoplasm;Cytosol;Nucleoplasm;Cytoplasm NA PE1 2 +NX_Q9Y4P3 447 49798 9.52 0 Cytosol NA PE1 7 +NX_Q9Y4P8 454 49408 6.04 0 Cytoplasm;Nucleoplasm;Cytosol;Preautophagosomal structure membrane NA PE1 7 +NX_Q9Y4P9 236 26987 9.7 0 Cytoskeleton;Cilium axoneme;Cytoplasm;Flagellum NA PE1 20 +NX_Q9Y4R7 772 87414 8.73 0 Cytoskeleton;Cilium;Cilium axoneme NA PE1 3 +NX_Q9Y4R8 837 91747 5.54 0 Nucleus;Cytoplasm;Cytosol;Nucleus;Telomere;Cytoplasm;Membrane;Nucleus You-Hoover-Fong syndrome PE1 16 +NX_Q9Y4U1 282 31728 7.69 0 Cytosol;Cell membrane;Nucleoplasm;Cytoplasm Methylmalonic aciduria and homocystinuria type cblC PE1 1 +NX_Q9Y4W2 734 83065 4.64 0 Cytosol;Nucleolus;Nucleoplasm;Cytoplasm;Nucleoplasm;Microtubule organizing center Wilson-Turner X-linked mental retardation syndrome PE1 X +NX_Q9Y4W6 797 88584 8.81 2 Mitochondrion;Mitochondrion inner membrane;Mitochondrion Spastic ataxia 5, autosomal recessive;Spinocerebellar ataxia 28 PE1 18 +NX_Q9Y4X0 333 35463 8.96 0 Nucleus Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis;Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis PE1 X +NX_Q9Y4X1 527 59926 9.07 1 Membrane NA PE1 4 +NX_Q9Y4X3 112 12618 8.95 0 Secreted NA PE1 9 +NX_Q9Y4X4 402 44240 9.74 0 Nucleoplasm;Nucleus;Cytosol NA PE1 13 +NX_Q9Y4X5 557 64118 4.97 0 Nucleus;Golgi apparatus;Cajal body;Cytoplasm;Nucleus NA PE1 15 +NX_Q9Y4Y9 91 9937 4.42 0 Nucleus NA PE1 7 +NX_Q9Y4Z0 139 15350 10.02 0 Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_Q9Y4Z2 214 23077 9.61 0 Nucleus Diarrhea 4, malabsorptive, congenital PE1 10 +NX_Q9Y508 228 25694 6.99 0 Nucleus;Cytoplasm;Cytosol;Nucleus;Cytoplasm;Cell membrane NA PE1 20 +NX_Q9Y512 469 51976 6.44 0 Mitochondrion outer membrane;Mitochondrion;Cytoplasm;Mitochondrion NA PE1 22 +NX_Q9Y519 407 45562 6.45 7 Membrane;Cytosol;Golgi apparatus;Nucleoplasm NA PE1 22 +NX_Q9Y520 2896 316911 9.17 0 Cytosol NA PE1 1 +NX_Q9Y530 152 17025 8.55 0 Nucleus;Nucleolus NA PE1 6 +NX_Q9Y534 153 16786 7.02 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 22 +NX_Q9Y535 204 22918 4.47 0 Nucleoplasm;Centrosome;Nucleus;Cytoplasmic vesicle NA PE1 22 +NX_Q9Y536 164 18182 9.32 0 Cytoplasm NA PE1 1 +NX_Q9Y543 173 18470 9.88 0 Nucleus NA PE2 1 +NX_Q9Y546 428 48571 7.2 0 Nucleoplasm NA PE1 1 +NX_Q9Y547 144 16297 4.93 0 Cytosol;Cilium;Nucleoplasm NA PE1 1 +NX_Q9Y548 306 34277 5.13 5 Endoplasmic reticulum;Nucleoplasm;cis-Golgi network membrane;trans-Golgi network membrane;Late endosome membrane NA PE1 1 +NX_Q9Y561 859 94984 5.07 1 Nucleolus;Cell membrane;Mitochondrion;Membrane;Coated pit NA PE1 8 +NX_Q9Y566 2161 224959 8.29 0 Cell membrane;Cytoplasm;Postsynaptic density;Synapse NA PE1 19 +NX_Q9Y570 386 42315 5.67 0 Nucleus NA PE1 11 +NX_Q9Y572 518 56887 6.08 0 Cytosol;Cell membrane;Mitochondrion NA PE1 14 +NX_Q9Y573 584 65261 5.49 0 Cytoskeleton NA PE1 1 +NX_Q9Y574 426 48195 7.57 0 NA NA PE2 7 +NX_Q9Y575 518 57745 5.84 0 NA NA PE1 2 +NX_Q9Y576 335 37014 8.55 0 Nucleoplasm NA PE1 2 +NX_Q9Y577 477 54418 6.62 0 Cytoplasmic vesicle NA PE1 1 +NX_Q9Y580 266 30504 9.56 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q9Y581 213 24860 9.71 0 Secreted NA PE1 9 +NX_Q9Y584 194 20031 7.51 3 Mitochondrion inner membrane NA PE1 17 +NX_Q9Y585 309 34396 8.81 7 Cell membrane NA PE2 17 +NX_Q9Y586 359 40923 8.87 0 Cytoplasm;Nucleus Microphthalmia, syndromic, 14 PE1 4 +NX_Q9Y587 144 17005 5.08 0 trans-Golgi network membrane Spastic paraplegia 52, autosomal recessive PE1 14 +NX_Q9Y592 693 82059 5.95 0 Golgi apparatus;Centriole;Nucleus Nephronophthisis 18 PE1 12 +NX_Q9Y597 815 88984 6.58 0 Cytosol;Cell membrane NA PE1 1 +NX_Q9Y5A6 473 53658 7.81 0 Nucleus;Endoplasmic reticulum;Nucleus NA PE1 7 +NX_Q9Y5A7 615 70538 5.71 0 Nucleolus;Nucleus;Nucleus NA PE1 7 +NX_Q9Y5A9 579 62334 8.87 0 Cytoplasm;Cytosol;Cytosol;Nucleus;P-body NA PE1 1 +NX_Q9Y5B0 961 104399 5.17 0 Nucleus;Cytoskeleton;Centrosome;Spindle pole;Midbody;Nucleus speckle Congenital cataracts, facial dysmorphism, and neuropathy PE1 18 +NX_Q9Y5B6 917 104804 5.52 0 Cytosol;Nucleus;Nucleoplasm NA PE1 21 +NX_Q9Y5B8 376 42492 6.03 0 Mitochondrion NA PE1 1 +NX_Q9Y5B9 1047 119914 5.5 0 Nucleus;Chromosome;Nucleus;Nucleolus NA PE1 14 +NX_Q9Y5C1 460 53637 6.24 0 Secreted;Lamellipodium Hypobetalipoproteinemia, familial, 2 PE1 1 +NX_Q9Y5E1 797 87099 4.88 1 Cell membrane NA PE2 5 +NX_Q9Y5E2 793 86707 4.9 1 Cell membrane NA PE2 5 +NX_Q9Y5E3 794 87350 4.89 1 Cytosol;Nucleus;Cell membrane;Cell membrane NA PE2 5 +NX_Q9Y5E4 795 86423 4.87 1 Cell membrane NA PE1 5 +NX_Q9Y5E5 795 87270 5.05 1 Cell membrane;Cytoskeleton;Cell membrane;Cytosol NA PE2 5 +NX_Q9Y5E6 796 86773 4.88 1 Cytoplasmic vesicle;Cell membrane NA PE1 5 +NX_Q9Y5E7 798 87254 4.76 1 Nucleoplasm;Cell membrane NA PE1 5 +NX_Q9Y5E8 787 86329 4.74 1 Cell membrane NA PE1 5 +NX_Q9Y5E9 798 87548 4.81 1 Cytoplasmic vesicle;Cell membrane NA PE1 5 +NX_Q9Y5F0 798 87552 4.81 1 Cell membrane NA PE1 5 +NX_Q9Y5F1 795 86770 4.72 1 Cell membrane NA PE2 5 +NX_Q9Y5F2 797 87088 4.74 1 Cell membrane NA PE1 5 +NX_Q9Y5F3 818 90491 5.2 1 Cell membrane NA PE2 5 +NX_Q9Y5F6 944 101921 4.85 1 Nucleoplasm;Cell membrane NA PE1 5 +NX_Q9Y5F7 938 101214 5.16 1 Golgi apparatus;Cell membrane NA PE1 5 +NX_Q9Y5F8 929 100974 4.94 1 Cell membrane NA PE1 5 +NX_Q9Y5F9 930 101043 5.09 1 Cell membrane NA PE2 5 +NX_Q9Y5G0 923 99875 4.92 1 Cell membrane NA PE1 5 +NX_Q9Y5G1 929 101204 4.87 1 Cell membrane NA PE1 5 +NX_Q9Y5G2 931 100875 4.89 1 Cytoplasmic vesicle;Cell membrane NA PE1 5 +NX_Q9Y5G3 927 100360 4.92 1 Cell membrane;Focal adhesion;Cell membrane;Midbody NA PE2 5 +NX_Q9Y5G4 932 101687 4.91 1 Cell membrane NA PE2 5 +NX_Q9Y5G5 932 101480 5.1 1 Cell membrane NA PE2 5 +NX_Q9Y5G6 932 101722 4.73 1 Cell junction;Cell membrane;Cell membrane NA PE2 5 +NX_Q9Y5G7 932 100871 4.75 1 Cell membrane NA PE1 5 +NX_Q9Y5G8 931 100935 4.71 1 Cell membrane NA PE2 5 +NX_Q9Y5G9 962 103968 4.79 1 Cell membrane NA PE1 5 +NX_Q9Y5H0 932 100971 4.86 1 Cell membrane;Nucleoplasm;Centrosome NA PE2 5 +NX_Q9Y5H1 932 101484 4.85 1 Cell membrane NA PE1 5 +NX_Q9Y5H2 935 101543 4.81 1 Cell membrane NA PE1 5 +NX_Q9Y5H3 936 101447 4.78 1 Cell membrane NA PE2 5 +NX_Q9Y5H4 931 101226 4.87 1 Cell membrane NA PE2 5 +NX_Q9Y5H5 950 102402 4.94 1 Cell membrane NA PE2 5 +NX_Q9Y5H6 950 103051 5.13 1 Cell membrane NA PE2 5 +NX_Q9Y5H7 936 102048 5.28 1 Cell membrane NA PE1 5 +NX_Q9Y5H8 950 102428 4.95 1 Cell membrane NA PE2 5 +NX_Q9Y5H9 948 102063 5.08 1 Cell membrane NA PE1 5 +NX_Q9Y5I0 950 102483 5.08 1 Cell membrane NA PE2 5 +NX_Q9Y5I1 949 103298 5.22 1 Cell membrane;Cell junction;Cytoplasmic vesicle NA PE2 5 +NX_Q9Y5I2 948 102875 5.04 1 Cell membrane;Secreted NA PE2 5 +NX_Q9Y5I3 950 102952 5.03 1 Secreted;Cell membrane;Cell membrane NA PE2 5 +NX_Q9Y5I4 1007 109450 5.26 1 Cell membrane;Mitochondrion;Nucleoplasm NA PE1 5 +NX_Q9Y5I7 305 33836 8.26 4 Cell membrane;Tight junction Hypomagnesemia 3 PE1 3 +NX_Q9Y5J1 556 62004 8.93 0 Nucleolus;Nucleolus;Nucleus;Nucleus membrane NA PE1 17 +NX_Q9Y5J3 304 32613 8.99 0 Nucleoplasm;Nucleus membrane;Cytosol;Nucleus NA PE1 8 +NX_Q9Y5J5 127 13891 9.72 0 Membrane;Cytoplasm NA PE1 1 +NX_Q9Y5J6 103 11586 6.95 0 Mitochondrion inner membrane NA PE1 11 +NX_Q9Y5J7 89 10378 6.71 0 Mitochondrion inner membrane;Mitochondrion NA PE1 14 +NX_Q9Y5J9 83 9344 5.02 0 Mitochondrion inner membrane NA PE1 11 +NX_Q9Y5K1 396 44537 9.05 0 Nucleus NA PE2 20 +NX_Q9Y5K2 254 27032 4.8 0 Secreted Amelogenesis imperfecta, hypomaturation type, 2A1 PE1 19 +NX_Q9Y5K3 369 41940 5.99 0 Endoplasmic reticulum NA PE1 X +NX_Q9Y5K5 329 37607 5.23 0 Cytoplasm;Nucleoplasm;Mitochondrion;Nucleus NA PE1 1 +NX_Q9Y5K6 639 71451 6.07 0 Cytoplasm;Cytosol;Cytoskeleton;Cell junction;Cell membrane;Ruffle Focal segmental glomerulosclerosis 3 PE1 6 +NX_Q9Y5K8 247 28263 9.36 0 Nucleoplasm;Membrane NA PE1 14 +NX_Q9Y5L0 923 104203 5.35 0 Cytoplasmic vesicle;Cytoplasm;Nucleus Limb-girdle muscular dystrophy 1F PE1 7 +NX_Q9Y5L2 63 6950 6.71 1 Nucleoplasm;Lipid droplet;Membrane;Lipid droplet;Secreted NA PE1 7 +NX_Q9Y5L3 495 53665 8.58 2 Cell membrane;Endoplasmic reticulum membrane NA PE1 9 +NX_Q9Y5L4 95 10500 8.42 0 Nucleolus;Mitochondrion inner membrane;Mitochondrion NA PE1 19 +NX_Q9Y5L5 61 6908 8.61 0 NA NA PE2 1 +NX_Q9Y5M1 114 11973 7.75 0 NA NA PE4 17 +NX_Q9Y5M6 44 5321 9.78 0 NA NA PE2 1 +NX_Q9Y5M8 271 29702 9.17 1 Cell membrane;Endoplasmic reticulum membrane NA PE1 3 +NX_Q9Y5N1 445 48671 9.43 7 Cell membrane NA PE1 20 +NX_Q9Y5N5 214 22957 5.02 0 Nucleoplasm;Centrosome NA PE1 21 +NX_Q9Y5N6 252 28107 8.91 0 Nucleus;Nucleus;Nucleolus Meier-Gorlin syndrome 3 PE1 16 +NX_Q9Y5P0 310 34912 8.35 7 Cell membrane NA PE2 11 +NX_Q9Y5P1 312 35373 8.94 7 Cell membrane NA PE3 11 +NX_Q9Y5P2 127 14430 10.33 0 NA NA PE2 X +NX_Q9Y5P3 530 57180 5.14 0 Cell membrane NA PE1 X +NX_Q9Y5P4 624 70835 5.29 0 Nucleoplasm;Endoplasmic reticulum;Golgi apparatus;Golgi apparatus;Cytoplasm Mental retardation, autosomal dominant 34 PE1 5 +NX_Q9Y5P6 360 39834 6.16 0 Nucleus;Cytoplasm Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14;Muscular dystrophy-dystroglycanopathy limb-girdle C14;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 PE1 3 +NX_Q9Y5P8 575 65061 5.01 0 Endoplasmic reticulum;Nucleus NA PE1 X +NX_Q9Y5Q0 445 51145 7.42 4 Endoplasmic reticulum membrane NA PE1 11 +NX_Q9Y5Q3 323 35792 7.17 0 Nucleolus;Nucleus;Nucleus Multicentric carpotarsal osteolysis syndrome;Duane retraction syndrome 3 with or without deafness PE1 20 +NX_Q9Y5Q5 1042 116486 4.87 1 Cytoskeleton;Cell membrane;Nucleus;Cell membrane;Secreted;Secreted;Secreted Pre-eclampsia/eclampsia 5 PE1 4 +NX_Q9Y5Q6 135 15333 6.81 0 Secreted NA PE1 1 +NX_Q9Y5Q8 519 59571 6.47 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q9Y5Q9 886 101272 4.98 0 Nucleus membrane;Nucleus;Nucleus NA PE1 2 +NX_Q9Y5R2 645 73231 9.3 1 Nucleolus;Cell membrane;Cell membrane;trans-Golgi network membrane;Extracellular matrix NA PE1 20 +NX_Q9Y5R4 338 38231 6.22 0 Mitochondrion NA PE1 3 +NX_Q9Y5R5 561 61814 6.37 0 Nucleus NA PE2 9 +NX_Q9Y5R6 373 39473 7.54 0 Nucleus Testicular germ cell tumor;46,XY sex reversal 4 PE1 9 +NX_Q9Y5R8 145 16832 9.23 0 Endoplasmic reticulum;cis-Golgi network NA PE1 17 +NX_Q9Y5S1 764 85981 5.56 6 Cell membrane;Cell membrane;Cytoplasm;Melanosome NA PE1 17 +NX_Q9Y5S2 1711 194315 5.97 0 Cytoplasm;Cell membrane;Lamellipodium;Cytosol;Nucleus speckle;Cell junction NA PE1 14 +NX_Q9Y5S8 564 64871 8.79 6 Invadopodium membrane;Cell membrane NA PE1 X +NX_Q9Y5S9 174 19889 5.5 0 Nucleus;Cytoplasm;Nucleus speckle;Nucleus;Nucleus speckle;Cytoplasm NA PE1 1 +NX_Q9Y5T4 150 16383 10.08 1 Mitochondrion inner membrane NA PE1 13 +NX_Q9Y5T5 823 93570 6.5 0 Cytosol;Nucleus;Nucleoplasm NA PE1 21 +NX_Q9Y5U2 329 34326 5.07 0 Cytosol;Nucleoplasm NA PE1 11 +NX_Q9Y5U4 225 24778 8.16 5 Endoplasmic reticulum membrane NA PE1 2 +NX_Q9Y5U5 241 26000 5.97 1 Secreted;Cell membrane NA PE1 1 +NX_Q9Y5U8 109 12347 9.67 2 Mitochondrion;Mitochondrion inner membrane Mitochondrial pyruvate carrier deficiency PE1 6 +NX_Q9Y5U9 82 8969 7.96 2 Endoplasmic reticulum;Endoplasmic reticulum membrane;Endoplasmic reticulum Microcephaly, epilepsy, and diabetes syndrome PE1 18 +NX_Q9Y5V0 76 8498 10.02 0 Cytoplasm;Cell membrane;Nucleus NA PE1 8 +NX_Q9Y5V3 778 86161 5.64 0 Cytosol;Cytoplasm;Cell membrane;Nucleus NA PE1 X +NX_Q9Y5W3 355 37420 9.06 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q9Y5W5 379 41528 7.84 0 Secreted NA PE1 12 +NX_Q9Y5W7 946 110182 6.28 2 Lysosome membrane;Late endosome membrane;Cytosol;Dendrite Spinocerebellar ataxia, autosomal recessive, 20 PE1 6 +NX_Q9Y5W8 968 112189 6.15 0 Early endosome membrane NA PE1 7 +NX_Q9Y5W9 270 30433 6.61 0 Cytosol;Membrane;Endosome NA PE1 17 +NX_Q9Y5X0 201 23598 5.5 0 Cytoskeleton;Centrosome;Nucleus;Nucleolus;Cytoplasm;Endosome membrane Osteopetrosis, autosomal recessive 8 PE1 7 +NX_Q9Y5X1 595 66592 5.4 0 Cytoplasm;Cytoplasmic vesicle membrane;Cytosol;Clathrin-coated vesicle;trans-Golgi network;Ruffle;Cytoplasm;Cell membrane;Cell membrane NA PE1 6 +NX_Q9Y5X2 465 52569 6.96 0 Early endosome membrane;Cytoplasmic vesicle NA PE1 7 +NX_Q9Y5X3 404 46816 6.31 0 Cell membrane;Cytoplasmic vesicle membrane;Cytoplasm;Phagocytic cup;Ruffle;Cytosol;Nucleolus;Endosome;Early endosome;Early endosome membrane NA PE1 20 +NX_Q9Y5X4 410 44692 8.17 0 Nucleus Enhanced S cone syndrome;Retinitis pigmentosa 37 PE1 15 +NX_Q9Y5X5 522 60270 9.43 7 Cell membrane;Cytoskeleton;Cell membrane NA PE1 4 +NX_Q9Y5X9 500 56795 8.13 0 Secreted NA PE1 18 +NX_Q9Y5Y0 555 59863 5.72 12 Cell membrane;Mitochondrion membrane;Cell junction Posterior column ataxia with retinitis pigmentosa PE1 1 +NX_Q9Y5Y2 271 28825 5.55 0 Cytosol;Nucleus;Microtubule organizing center;Centriole;Cilium axoneme;Cytoplasm;Centrosome;Nucleus NA PE1 16 +NX_Q9Y5Y3 372 41967 9.45 7 Cell membrane NA PE2 2 +NX_Q9Y5Y4 395 43268 10.52 7 Cell membrane NA PE1 11 +NX_Q9Y5Y5 336 38629 9.85 2 Peroxisome membrane;Endoplasmic reticulum membrane Peroxisome biogenesis disorder complementation group 9;Peroxisome biogenesis disorder 8A;Peroxisome biogenesis disorder 8B PE1 11 +NX_Q9Y5Y6 855 94770 6.11 1 Membrane;Cytoplasmic vesicle;Nucleoplasm Ichthyosis, congenital, autosomal recessive 11 PE1 11 +NX_Q9Y5Y7 322 35213 8.59 1 Membrane NA PE1 11 +NX_Q9Y5Y9 1956 220626 5.67 24 Cell membrane Episodic pain syndrome, familial, 2 PE1 3 +NX_Q9Y5Z0 518 56180 5.05 1 Membrane;Golgi apparatus;Endoplasmic reticulum;Endosome;Cell surface NA PE1 21 +NX_Q9Y5Z4 205 22875 4.58 0 Mitochondrion;Cytoplasm NA PE1 6 +NX_Q9Y5Z6 326 37993 9.38 1 Golgi apparatus membrane NA PE1 2 +NX_Q9Y5Z7 792 86779 8.75 0 Cytosol;Nucleus;Cytoplasm;Nucleoplasm;Cell membrane NA PE1 12 +NX_Q9Y5Z9 338 36831 8.4 8 Endoplasmic reticulum membrane;Golgi apparatus membrane;Mitochondrion membrane;Cytoplasm;Nucleus;Cytoplasmic vesicle Corneal dystrophy, Schnyder type PE1 1 +NX_Q9Y600 493 55023 6.06 0 NA NA PE1 12 +NX_Q9Y603 341 38998 8.27 0 Nucleoplasm;Nucleus NA PE1 6 +NX_Q9Y605 127 14650 4.69 0 Nucleus;Nucleus;Perinuclear region NA PE1 4 +NX_Q9Y606 427 47470 8.69 0 Nucleus;Mitochondrion;Nucleus;Mitochondrion Myopathy with lactic acidosis and sideroblastic anemia 1 PE1 12 +NX_Q9Y608 721 82171 6.5 0 Cytoskeleton;Cell membrane NA PE1 3 +NX_Q9Y613 1164 126551 6.01 0 Cytoplasm;Cytosol;Cytoskeleton;Bleb NA PE1 16 +NX_Q9Y614 415 45234 5.32 0 Cytoskeleton NA PE1 9 +NX_Q9Y615 435 48644 6.64 0 Cytoskeleton;Golgi apparatus;Cytoplasm;Nucleus NA PE1 9 +NX_Q9Y616 596 67767 6.25 0 Cytoplasmic vesicle Asthma-related traits 5 PE1 12 +NX_Q9Y617 370 40423 7.56 0 Cytosol Phosphoserine aminotransferase deficiency;Neu-Laxova syndrome 2 PE1 9 +NX_Q9Y618 2525 274804 7.21 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q9Y619 301 32736 9.28 6 Mitochondrion inner membrane Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome PE1 13 +NX_Q9Y620 910 102967 8.44 0 Nucleus NA PE1 8 +NX_Q9Y623 1939 223071 5.65 0 Myofibril NA PE1 17 +NX_Q9Y624 299 32583 8.09 1 Cell membrane;Cytoskeleton;Cell junction;Tight junction;Cell membrane NA PE1 1 +NX_Q9Y625 555 62736 5.29 0 Cell membrane;Extracellular space;Cytoplasmic vesicle;Golgi apparatus Omodysplasia 1 PE1 13 +NX_Q9Y639 398 44387 8.11 1 Cytoskeleton;Mitochondrion;Cell membrane NA PE1 15 +NX_Q9Y644 331 36424 9.3 1 Nucleus;Golgi apparatus membrane NA PE1 17 +NX_Q9Y646 472 51888 5.79 0 Endoplasmic reticulum;Cytoplasmic vesicle;Golgi apparatus;Golgi apparatus;Lysosome;Secreted NA PE1 8 +NX_Q9Y651 276 28580 9.74 0 Nucleus;Nucleus NA PE1 13 +NX_Q9Y653 693 77738 8.79 7 Cell membrane;Membrane raft;Secreted Polymicrogyria, bilateral perisylvian, autosomal recessive;Polymicrogyria, bilateral frontoparietal PE1 16 +NX_Q9Y657 262 29601 6.46 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 9 +NX_Q9Y661 456 49799 8.82 1 Golgi apparatus membrane NA PE2 16 +NX_Q9Y662 390 43324 9.67 1 Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 17 +NX_Q9Y663 406 44900 9.54 1 Cytoskeleton;Golgi apparatus membrane NA PE1 17 +NX_Q9Y664 436 48080 5.12 0 Cytosol;Stereocilium;Cell membrane;Nucleoplasm;Lamellipodium;Lysosome membrane Mental retardation, autosomal recessive 41 PE1 19 +NX_Q9Y666 1083 119106 6.28 12 Cytosol;Cell membrane NA PE1 5 +NX_Q9Y672 507 58121 8.8 11 Endoplasmic reticulum;Endoplasmic reticulum membrane Congenital disorder of glycosylation 1C PE1 1 +NX_Q9Y673 324 36946 9.34 1 Endoplasmic reticulum membrane;Cytosol NA PE1 13 +NX_Q9Y675 71 8412 10.58 0 Nucleus NA PE1 15 +NX_Q9Y676 258 29396 9.47 0 Cytoplasm;Mitochondrion;Mitochondrion;Cell junction NA PE1 6 +NX_Q9Y678 874 97718 5.32 0 Golgi apparatus;Nucleoplasm;Cytosol;Cytoplasm;Golgi apparatus membrane;COPI-coated vesicle membrane NA PE1 3 +NX_Q9Y679 476 53028 8.37 1 Nucleoplasm;Cytoplasmic vesicle;Endoplasmic reticulum membrane NA PE1 2 +NX_Q9Y680 259 30009 6.09 0 Endoplasmic reticulum;Endoplasmic reticulum lumen NA PE1 2 +NX_Q9Y689 179 20728 6.3 0 NA NA PE1 2 +NX_Q9Y691 235 27130 8.71 2 Membrane NA PE1 3 +NX_Q9Y692 573 62591 4.76 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q9Y693 200 21598 7.87 3 Nucleolus;Membrane NA PE1 13 +NX_Q9Y694 548 60026 6.57 12 Basolateral cell membrane NA PE1 6 +NX_Q9Y696 253 28772 5.45 1 Nucleus;Cytoplasm;Cell membrane;Cytosol;Nucleus matrix;Cell membrane;Mitochondrion;Cell junction;Centrosome;Cytoplasmic vesicle membrane NA PE1 1 +NX_Q9Y697 457 50196 8.54 0 Cytoplasm;Mitochondrion;Nucleus;Cytosol;Nucleoplasm NA PE1 20 +NX_Q9Y698 323 35966 9.13 4 Membrane;Synaptosome Mental retardation, autosomal dominant 10 PE1 22 +NX_Q9Y6A1 747 84881 8.69 12 Golgi apparatus;Endoplasmic reticulum membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1;Muscular dystrophy-dystroglycanopathy limb-girdle C1 PE1 9 +NX_Q9Y6A2 500 56821 9.15 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 14 +NX_Q9Y6A4 193 22774 9.78 0 Nucleus;Centriole;Cilium basal body;Cilium;Nucleus NA PE1 16 +NX_Q9Y6A5 838 90360 4.97 0 Cytosol;Endoplasmic reticulum;Spindle pole;Spindle;Centrosome;Cytoplasm;Centrosome NA PE1 4 +NX_Q9Y6A9 102 11805 9.34 2 Cell membrane;Endoplasmic reticulum;Microsome membrane;Endoplasmic reticulum membrane NA PE1 3 +NX_Q9Y6B2 187 20876 3.89 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 15 +NX_Q9Y6B6 198 22410 5.76 0 Endoplasmic reticulum membrane;Golgi stack membrane Chylomicron retention disease PE1 5 +NX_Q9Y6B7 739 83260 5.59 0 Cytoplasmic vesicle;trans-Golgi network membrane Spastic paraplegia 47, autosomal recessive PE1 1 +NX_Q9Y6C2 1016 106695 5.1 0 Extracellular matrix NA PE1 2 +NX_Q9Y6C5 1203 130544 6 12 Membrane Basal cell carcinoma;Medulloblastoma PE2 1 +NX_Q9Y6C7 94 11024 10.19 0 NA NA PE5 3 +NX_Q9Y6C9 303 33331 8.25 3 Mitochondrion;Mitochondrion inner membrane NA PE1 11 +NX_Q9Y6D0 94 10645 10.86 1 Cytosol;Endoplasmic reticulum membrane;Cell membrane;Nucleoplasm NA PE1 3 +NX_Q9Y6D5 1785 202038 5.93 0 Cytoplasm;Golgi apparatus;Membrane;Golgi apparatus;Perinuclear region;trans-Golgi network;Endosome;Centrosome;Dendrite;Cytoplasmic vesicle;Synapse;Cytoskeleton Periventricular nodular heterotopia 2 PE1 20 +NX_Q9Y6D6 1849 208767 5.58 0 Cytoplasm;Perinuclear region;Golgi apparatus;Membrane;Golgi apparatus;Cytosol;Nucleoplasm;Nucleus matrix;Nucleolus;Nucleus;trans-Golgi network NA PE1 8 +NX_Q9Y6D9 718 83067 5.72 0 Cytosol;Cytoskeleton;Nucleus;Kinetochore;Nucleus envelope;Centrosome;Spindle;Spindle pole;Nucleus NA PE1 7 +NX_Q9Y6E0 443 49308 5.49 0 Cytoplasm;Nucleolus;Cytosol;Cytoplasm;Nucleus;Membrane NA PE1 13 +NX_Q9Y6E2 419 48162 6.26 0 Cytosol;Cytoskeleton;Cell membrane NA PE1 7 +NX_Q9Y6E7 314 35188 9.04 0 Mitochondrion matrix NA PE1 12 +NX_Q9Y6F1 533 60089 6.34 0 Nucleus;Centrosome;Centriole;Nucleolus;Cytosol NA PE1 3 +NX_Q9Y6F6 885 96145 5.44 1 Cytosol;Nucleus;Sarcoplasmic reticulum;Membrane;Perinuclear region NA PE1 11 +NX_Q9Y6F7 541 60524 9.14 0 Nucleus NA PE1 Y +NX_Q9Y6F8 540 60473 9.21 0 Nucleus NA PE1 Y +NX_Q9Y6F9 365 39721 9.22 0 Extracellular matrix NA PE1 2 +NX_Q9Y6G1 99 10712 10.55 3 Endoplasmic reticulum;Nucleoplasm;Endoplasmic reticulum membrane;Mitochondrion membrane NA PE1 6 +NX_Q9Y6G3 142 16661 8.58 0 Cell membrane;Mitochondrion;Mitochondrion NA PE1 12 +NX_Q9Y6G5 202 22966 6.09 0 Cytosol;Cell membrane;Nucleus;Cytoplasm NA PE1 5 +NX_Q9Y6G9 523 56579 6.01 0 Cytosol;Centrosome;Cytoplasm;Kinetochore;Spindle pole NA PE1 3 +NX_Q9Y6H1 151 15513 9.43 0 Nucleus;Mitochondrion;Mitochondrion intermembrane space Parkinson disease 22 PE1 7 +NX_Q9Y6H3 246 28081 8.3 0 Cytoplasmic vesicle;Cytosol;Cell junction;Cell membrane NA PE1 12 +NX_Q9Y6H5 919 100409 5.96 0 Cytoplasm;Cytosol Parkinson disease PE1 5 +NX_Q9Y6H6 103 11710 8.82 1 Cell membrane;Cytoplasm;Perikaryon;Dendrite;Membrane raft NA PE1 11 +NX_Q9Y6H8 435 47410 6.15 4 Cell membrane;Gap junction Cataract 14, multiple types PE1 13 +NX_Q9Y6I0 156 16972 5.86 0 NA NA PE3 7 +NX_Q9Y6I3 576 60293 4.72 0 Cytosol;Cytoplasm;Cell membrane;Nucleus;Clathrin-coated pit NA PE1 19 +NX_Q9Y6I4 520 58897 8.54 0 Nucleus;Nucleus NA PE1 15 +NX_Q9Y6I7 421 47432 7.63 0 Nucleus;Cytoplasm;Mitochondrion NA PE1 17 +NX_Q9Y6I8 212 24264 10.07 2 Peroxisome;Nucleolus;Peroxisome;Peroxisome membrane NA PE1 20 +NX_Q9Y6I9 313 34189 4.79 0 Secreted;Cytosol;Nucleolus NA PE1 3 +NX_Q9Y6J0 2220 246352 5.7 0 Cytosol;Nucleus;Nucleoplasm NA PE1 22 +NX_Q9Y6J3 95 10312 9.43 0 NA NA PE2 5 +NX_Q9Y6J6 123 14472 5.57 1 Cell membrane Long QT syndrome 6;Atrial fibrillation, familial, 4 PE1 21 +NX_Q9Y6J8 313 35818 5.73 0 Nucleus speckle NA PE1 7 +NX_Q9Y6J9 622 67814 9.14 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q9Y6K0 416 46554 8.55 8 Nucleus membrane;Endoplasmic reticulum membrane NA PE1 1 +NX_Q9Y6K1 912 101858 6.19 0 Nucleus;Cytoplasm;Nucleoplasm Tatton-Brown-Rahman syndrome PE1 2 +NX_Q9Y6K5 1087 121170 8.73 0 Cell membrane;Nucleoplasm;Nucleus;Cytoplasm;Cytosol NA PE1 12 +NX_Q9Y6K8 562 63333 4.96 0 Cytoplasm;Microtubule organizing center;Cytosol NA PE1 1 +NX_Q9Y6K9 419 48198 5.56 0 Nucleus;Cytoplasm;Cytoplasm;Nucleus;Cytosol Immunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia;Incontinentia pigmenti;Immunodeficiency 33;Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema;Recurrent isolated invasive pneumococcal disease 2;Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked PE1 X +NX_Q9Y6L6 691 76449 8.85 12 Basolateral cell membrane Hyperbilirubinemia, Rotor type PE1 12 +NX_Q9Y6L7 1015 113557 5.6 0 Secreted NA PE1 10 +NX_Q9Y6M0 314 34884 7.56 0 Cytosol;Cell membrane NA PE1 16 +NX_Q9Y6M1 599 66121 8.48 0 Cytoplasm;Nucleus;Cytosol NA PE1 3 +NX_Q9Y6M4 447 51389 9.29 0 Cytoplasm NA PE1 5 +NX_Q9Y6M5 507 55300 6.02 6 Cell membrane;Cell membrane;Cytoplasmic vesicle NA PE1 1 +NX_Q9Y6M7 1214 136044 6.26 11 Cell membrane;Apical cell membrane;Cell membrane;Focal adhesion;Stereocilium;Basolateral cell membrane NA PE1 3 +NX_Q9Y6M9 179 21831 8.57 0 Mitochondrion inner membrane;Mitochondrion NA PE1 8 +NX_Q9Y6N1 276 31430 9.22 1 Mitochondrion inner membrane NA PE1 17 +NX_Q9Y6N3 262 29971 8.42 0 Secreted NA PE1 1 +NX_Q9Y6N5 450 49961 9.18 0 Mitochondrion;Mitochondrion NA PE1 15 +NX_Q9Y6N6 1575 171227 6.14 0 Basement membrane Cortical malformations occipital PE1 9 +NX_Q9Y6N7 1651 180930 5.7 1 Cell membrane;Axon;Cell membrane NA PE1 3 +NX_Q9Y6N8 788 88451 4.83 1 Cell membrane NA PE1 5 +NX_Q9Y6N9 552 62211 5.36 0 Cytosol;Cytoskeleton;Microvillus;Cytosol Deafness, autosomal recessive, 18A;Usher syndrome 1C PE1 11 +NX_Q9Y6P5 492 56557 5.68 0 Nucleus;Nucleus;Nucleolus;Cytoplasm NA PE1 6 +NX_Q9Y6Q1 641 74576 6.62 0 Perinuclear region;Spindle;Cytosol NA PE1 X +NX_Q9Y6Q2 735 83141 5.82 0 Membrane;Cytoplasm NA PE1 2 +NX_Q9Y6Q3 630 71209 9.26 0 Cytoplasmic vesicle;Nucleus;Nucleus NA PE1 9 +NX_Q9Y6Q5 423 48108 8.23 0 Cytoplasmic vesicle;Clathrin-coated vesicle membrane;Golgi apparatus NA PE1 19 +NX_Q9Y6Q6 616 66034 5.21 1 Cell membrane;Cell membrane;Cytosol Paget disease of bone 2, early-onset;Familial expansile osteolysis;Osteopetrosis, autosomal recessive 7 PE1 18 +NX_Q9Y6Q9 1424 155293 7.16 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 20 +NX_Q9Y6R0 609 64891 9.1 0 Cytoplasm NA PE1 19 +NX_Q9Y6R1 1079 121461 6.35 10 Basolateral cell membrane Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation PE1 4 +NX_Q9Y6R4 1608 181685 5.94 0 Perinuclear region;Cytosol NA PE1 6 +NX_Q9Y6R6 833 96807 9.17 0 Nucleus NA PE1 19 +NX_Q9Y6R7 5405 572017 5.14 0 Secreted;Cell membrane;Cytoskeleton;Golgi apparatus NA PE1 19 +NX_Q9Y6R9 512 57368 10.27 0 Nucleus NA PE1 19 +NX_Q9Y6S9 549 60036 7.06 0 Nucleoplasm NA PE2 14 +NX_Q9Y6T7 804 90595 8.11 0 Cytoplasm NA PE1 7 +NX_Q9Y6U3 715 80489 5.5 0 Cell membrane;Cytosol;Cytoskeleton;Podosome NA PE1 7 +NX_Q9Y6U7 377 41101 8.98 2 Nucleolus;Cytoskeleton;Membrane NA PE2 22 +NX_Q9Y6V0 5065 553277 6.09 0 Cell membrane;Nucleus speckle;Synapse Pontocerebellar hypoplasia 3 PE1 7 +NX_Q9Y6V7 483 54226 9.21 0 Mitochondrion;Nucleolus NA PE1 19 +NX_Q9Y6W3 813 92652 7.55 0 Nucleus;Cytosol;Nucleus;Nucleoplasm NA PE1 3 +NX_Q9Y6W5 498 54284 5.38 0 Cytoskeleton;Cytoplasm;Lamellipodium;Cytosol;Cell membrane;Cytoskeleton NA PE1 1 +NX_Q9Y6W6 482 52642 7.87 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleoplasm NA PE1 1 +NX_Q9Y6W8 199 22625 9.01 1 Cell membrane;Secreted Immunodeficiency, common variable, 1 PE1 2 +NX_Q9Y6X0 1596 175008 9.76 0 Nucleus;Cytosol;Nucleus;Nucleus Leukemia, chronic myeloid, atypical;Mental retardation, autosomal dominant 29;Myelodysplastic syndrome;Leukemia, juvenile myelomonocytic;Schinzel-Giedion midface retraction syndrome;Leukemia, acute myelogenous PE1 18 +NX_Q9Y6X1 66 7374 11.01 1 Cell membrane;Endoplasmic reticulum membrane;Membrane;Endoplasmic reticulum NA PE1 3 +NX_Q9Y6X2 628 68017 7.81 0 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA PE1 1 +NX_Q9Y6X3 613 69082 6.84 0 Nucleoplasm;Nucleoplasm NA PE1 19 +NX_Q9Y6X4 670 74955 4.52 0 Nucleus membrane;Nucleus inner membrane;Cytosol;Nucleus envelope NA PE1 5 +NX_Q9Y6X5 453 51641 5.71 1 Cell membrane NA PE1 6 +NX_Q9Y6X6 1858 206129 6.37 0 Cytoplasmic vesicle;Cytoplasm NA PE1 13 +NX_Q9Y6X8 837 92307 6.42 0 Nucleus NA PE1 8 +NX_Q9Y6X9 1032 117823 8.6 0 Cytosol;Cytosol;Nucleus;Nucleus Charcot-Marie-Tooth disease 2Z PE1 22 +NX_Q9Y6Y0 642 71729 5.33 0 Cytosol;Cytoplasm;Cytoskeleton;Nucleoplasm NA PE1 1 +NX_Q9Y6Y1 1673 183672 7.29 0 Nucleolus;Cytosol;Nucleus;Cytoplasm Cerebellar ataxia, non-progressive, with mental retardation PE1 1 +NX_Q9Y6Y8 1000 111076 5.35 0 COPII-coated vesicle membrane;Cytoplasmic vesicle;Endoplasmic reticulum NA PE1 10 +NX_Q9Y6Y9 160 18546 8.8 0 Cytoplasmic vesicle;Secreted;Extracellular space NA PE1 8 +NX_Q9Y6Z2 57 6189 5.98 0 NA NA PE4 6 +NX_Q9Y6Z4 181 19411 9.48 0 NA NA PE5 6 +NX_Q9Y6Z5 254 26128 11.81 0 NA NA PE5 6 +NX_Q9Y6Z7 277 30705 6.96 0 Cytoplasm;Golgi apparatus;Secreted 3MC syndrome 3 PE1 8 +NX_Q9YNA8 666 74183 9.05 0 Cell membrane NA PE1 19 +NX_S4R3P1 24 2751 5.87 0 Secreted;Cytoplasm NA PE3 4 +NX_S4R3Y5 24 2737 7.98 0 Secreted;Cytoplasm NA PE2 1 +NX_U3KPV4 340 38754 9.39 1 Golgi stack membrane NA PE2 1 +NX_W5XKT8 324 36333 6.15 1 Membrane NA PE1 19 +NX_A0A075B6H9 119 12773 6.01 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6I0 122 12814 4.33 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6I1 120 12987 5.8 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6I4 117 12395 7.85 0 Secreted;Cell membrane NA PE1 22 +NX_A0A075B6I9 117 12468 6.69 0 Secreted;Cell membrane NA PE1 22 +NX_A0A075B6J1 123 13277 4.75 0 Secreted;Cell membrane NA PE1 22 +NX_A0A075B6J6 115 12549 3.95 0 Cell membrane;Secreted NA PE3 22 +NX_A0A075B6J9 118 12412 4.66 0 Secreted;Cell membrane NA PE1 22 +NX_A0A075B6K0 115 12466 4.58 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6K2 115 12387 5.34 0 Secreted;Cell membrane NA PE1 22 +NX_A0A075B6K4 115 12441 4.72 0 Secreted;Cell membrane NA PE1 22 +NX_A0A075B6K5 115 12332 6.81 0 Cell membrane;Secreted NA PE1 22 +NX_A0A075B6K6 122 13330 5.39 0 Secreted;Cell membrane NA PE1 22 +NX_A0A075B6P5 120 12957 5.61 0 Secreted;Cell membrane NA PE1 2 +NX_A0A075B6Q5 118 12891 7.69 0 Secreted;Cell membrane NA PE1 14 +NX_A0A075B6R2 117 12848 9.64 0 Secreted;Cell membrane NA PE1 14 +NX_A0A075B6S2 120 13143 6.53 0 Secreted;Cell membrane NA PE1 2 +NX_A0A075B6S4 117 12835 9.22 0 Secreted;Cell membrane NA PE1 2 +NX_A0A075B6S5 117 12712 8.5 0 Secreted;Cell membrane NA PE1 2 +NX_A0A075B6S6 120 13215 7.79 0 Secreted;Cell membrane NA PE3 2 +NX_A0A075B759 164 18197 9.43 0 Cytoplasm NA PE3 1 +NX_A0A087WSX0 123 13162 6.69 0 Secreted;Cell membrane NA PE1 22 +NX_A0A087WSY4 118 13025 9.7 0 Secreted;Cell membrane NA PE1 3 +NX_A0A087WSY6 115 12534 5.14 0 Secreted;Cell membrane NA PE3 2 +NX_A0A087WSZ0 117 12837 7.62 0 Secreted;Cell membrane NA PE1 2 +NX_A0A087WTH1 108 11832 7.61 2 Membrane NA PE2 16 +NX_A0A087WTH5 132 15028 8.73 1 Membrane NA PE3 21 +NX_A0A087WUL8 3843 440408 4.53 0 Cytoplasm NA PE5 1 +NX_A0A087WVF3 549 62187 9.2 0 Cell membrane NA PE2 17 +NX_A0A087WW87 121 13310 4.43 0 Cell membrane;Secreted NA PE1 2 +NX_A0A087WX78 387 41674 8.87 0 Nucleus NA PE5 18 +NX_A0A087WXM9 373 40829 8.65 0 Kinetochore;Centromere NA PE2 5 +NX_A0A087WXS9 549 62205 9.2 0 Cell membrane NA PE3 17 +NX_A0A087X179 549 62131 9.18 0 Cell membrane NA PE2 17 +NX_A0A087X1C5 515 57489 8.7 2 Mitochondrion;Cytoplasm;Membrane NA PE5 22 +NX_A0A087X1G2 549 62171 9.23 0 Cell membrane NA PE3 17 +NX_A0A096LNP1 70 8156 8.26 0 Secreted NA PE2 11 +NX_A0A096LP01 95 10908 6.24 1 Nucleoplasm;Cytosol;Membrane NA PE1 20 +NX_A0A096LP49 1063 114856 9.76 0 NA NA PE1 9 +NX_A0A096LP55 91 10752 4.39 0 Mitochondrion inner membrane NA PE3 1 +NX_A0A096LPI5 108 11989 8.8 0 NA NA PE4 6 +NX_A0A0A0MRZ7 120 13297 4.9 0 Cell membrane;Secreted NA PE3 2 +NX_A0A0A0MRZ8 115 12625 5.15 0 Secreted;Cell membrane NA PE3 2 +NX_A0A0A0MRZ9 124 13446 7.76 0 Secreted;Cell membrane NA PE1 22 +NX_A0A0A0MS14 117 13508 9.2 0 Secreted;Cell membrane NA PE1 14 +NX_A0A0A0MS15 119 13056 8.84 0 Secreted;Cell membrane NA PE1 14 +NX_A0A0A0MT36 114 12340 6.7 0 Secreted;Cell membrane NA PE3 2 +NX_A0A0A0MT76 42 4776 9.53 0 Secreted;Cell membrane NA PE4 22 +NX_A0A0A0MT89 13 1394 7.1 0 Secreted;Cell membrane NA PE4 2 +NX_A0A0B4J1U3 117 12478 4.56 0 Secreted;Cell membrane NA PE1 22 +NX_A0A0B4J1U7 121 13481 9.3 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0B4J1V0 119 12926 8.84 0 Secreted;Cell membrane NA PE1 14 +NX_A0A0B4J1V1 117 12840 8.49 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0B4J1V2 119 13182 8.49 0 Secreted;Cell membrane NA PE1 14 +NX_A0A0B4J1V6 119 12858 9.3 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0B4J1X5 117 12840 8.91 0 Secreted;Cell membrane NA PE1 14 +NX_A0A0B4J1X8 118 13077 5.28 0 Secreted;Cell membrane NA PE1 14 +NX_A0A0B4J1Y8 123 13024 6.7 0 Cell membrane;Secreted NA PE1 22 +NX_A0A0B4J1Y9 119 13203 7.69 0 Secreted;Cell membrane NA PE1 14 +NX_A0A0B4J1Z2 117 12989 9.1 0 Secreted;Cell membrane NA PE1 2 +NX_A0A0B4J2A2 164 18156 9.32 0 Cytoplasm NA PE2 1 +NX_A0A0B4J2D9 117 12569 7.68 0 Secreted;Cell membrane NA PE1 2 +NX_A0A0B4J2F0 54 6313 8.04 0 Secreted NA PE1 15 +NX_A0A0B4J2H0 117 12660 8.64 0 Secreted;Cell membrane NA PE1 14 +NX_A0A0C4DH24 114 12430 6.7 0 Secreted;Cell membrane NA PE3 2 +NX_A0A0C4DH25 116 12515 4.46 0 Secreted;Cell membrane NA PE1 2 +NX_A0A0C4DH29 117 13008 9.59 0 Secreted;Cell membrane NA PE1 14 +NX_A0A0C4DH31 117 12820 8.98 0 Secreted;Cell membrane NA PE1 14 +NX_A0A0C4DH32 117 12673 7.71 0 Secreted;Cell membrane NA PE1 14 +NX_A0A0C4DH33 117 12824 5.04 0 Secreted;Cell membrane NA PE1 14 +NX_A0A0C4DH34 117 13124 9.36 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0C4DH38 117 12675 8.45 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0C4DH39 117 13005 9.34 0 Secreted;Cell membrane NA PE1 14 +NX_A0A0C4DH41 118 13066 9.36 0 Cell membrane;Secreted NA PE3 14 +NX_A0A0C4DH42 116 12698 8.38 0 Secreted;Cell membrane NA PE3 14 +NX_A0A0C4DH43 119 13312 8.5 0 Secreted;Cell membrane NA PE1 14 +NX_A0A0C4DH55 119 13148 5.64 0 Secreted;Cell membrane NA PE1 2 +NX_A0A0C4DH62 17 1910 5.24 0 Secreted;Cell membrane NA PE4 14 +NX_A0A0C4DH67 115 12537 9.21 0 Cell membrane;Secreted NA PE1 2 +NX_A0A0C4DH68 120 13079 8.74 0 Secreted;Cell membrane NA PE1 2 +NX_A0A0C4DH69 117 12715 8.52 0 Cell membrane;Secreted NA PE1 2 +NX_A0A0C4DH72 117 12697 8.52 0 Secreted;Cell membrane NA PE1 2 +NX_A0A0C4DH73 117 12645 8.55 0 Secreted;Cell membrane NA PE3 2 +NX_A0A0C5B5G6 16 2175 10.27 0 Secreted NA PE1 MT +NX_A0A0G2JMD5 474 55092 8.62 0 NA NA PE3 1 +NX_A0A0G2JMI3 117 12871 4.72 0 Cell membrane;Secreted NA PE1 14 +NX_A0A0G2JS06 123 13394 8.84 0 Secreted;Cell membrane NA PE1 22 +NX_A0A0J9YVY3 117 12849 8.86 0 Secreted;Cell membrane NA PE1 14 +NX_A0A0J9YWL9 993 109806 8.94 0 NA NA PE5 X +NX_A0A0J9YX35 117 12823 7.68 0 Secreted;Cell membrane NA PE1 14 +NX_A0A0J9YX94 578 60071 4.47 0 NA NA PE1 X +NX_A0A0J9YXQ4 647 65155 4.62 0 NA NA PE1 X +NX_A0A0J9YXX1 117 12773 8.46 0 Secreted;Cell membrane NA PE1 14 +NX_A0A0U1RR37 186 20280 4.63 0 NA NA PE4 1 +NX_A0A0U1RRE5 68 7025 9.51 0 P-body NA PE1 X +NX_A0A183 80 9022 9.13 0 NA NA PE2 1 +NX_A0A1B0GTD5 131 15631 9.56 0 NA NA PE4 12 +NX_A0A1B0GTK4 181 20560 8.96 1 Membrane NA PE3 2 +NX_A0A1B0GTK5 79 8682 8.8 0 NA NA PE3 X +NX_A0A1B0GTQ4 84 9607 11.45 0 Cell membrane NA PE3 6 +NX_A0A1B0GTR0 161 18455 8.6 0 NA NA PE3 19 +NX_A0A1B0GTR4 108 11945 8.55 0 NA NA PE5 1 +NX_A0A1B0GTS1 333 37155 6.48 0 Nucleus NA PE3 X +NX_A0A1B0GTY4 177 20847 9.36 1 Membrane NA PE1 1 +NX_A0A1B0GTZ2 297 34479 8.83 0 NA NA PE5 14 +NX_A0A1B0GU29 152 16551 4.52 1 Membrane NA PE3 6 +NX_A0A1B0GUA6 201 21921 8.34 0 NA NA PE5 2 +NX_A0A1B0GUA7 166 18842 7.59 1 Membrane NA PE3 2 +NX_A0A1B0GUC4 108 12046 9 0 NA NA PE4 1 +NX_A0A1B0GUJ8 204 22873 9.07 0 NA NA PE3 19 +NX_A0A1B0GUQ0 79 8715 7.8 0 NA NA PE3 X +NX_A0A1B0GUU1 675 72432 5.84 1 Membrane NA PE3 17 +NX_A0A1B0GUV7 120 13937 8.99 0 NA NA PE4 9 +NX_A0A1B0GV22 79 8715 7.8 0 NA NA PE3 X +NX_A0A1B0GVG4 234 24954 10.03 0 NA NA PE3 19 +NX_A0A1B0GVH4 220 25576 8.73 0 Secreted NA PE3 8 +NX_A0A1B0GVH7 501 59586 9.96 0 NA NA PE4 4 +NX_A0A1B0GVK7 77 9685 9.92 0 NA NA PE4 3 +NX_A0A1B0GVM6 126 13914 9.43 0 NA NA PE4 11 +NX_A0A1B0GVQ0 90 9632 8.51 1 Late endosome membrane;Lysosome membrane NA PE1 9 +NX_A0A1B0GVS7 189 21509 4.64 0 NA NA PE2 3 +NX_A0A1B0GVZ2 78 9744 8.52 0 NA NA PE4 9 +NX_A0A1B0GVZ6 204 22665 11.53 0 NA NA PE3 19 +NX_A0A1B0GVZ9 245 26874 6.68 5 Membrane NA PE3 1 +NX_A0A1B0GWH4 333 37128 6.48 0 Nucleus NA PE3 X +NX_A0A1W2PPG7 69 7528 5.14 0 Cell membrane NA PE5 19 +NX_A0A5B9 178 19969 5.81 1 Membrane NA PE1 7 +NX_A0AUZ9 987 112253 8.69 0 Cytosol NA PE1 2 +NX_A0AV02 714 78239 5.51 13 Membrane;Nucleoplasm NA PE1 3 +NX_A0AV96 593 64099 7.56 0 Nucleus;Cytosol;Nucleoplasm NA PE1 4 +NX_A0AVF1 554 64178 6.5 0 Cytoplasm;Nucleus;Nucleus speckle;Cilium;Cytoskeleton;Cytosol NA PE1 7 +NX_A0AVI2 2057 237935 8.3 1 Cell membrane;Membrane NA PE1 2 +NX_A0AVI4 362 40464 7.84 3 Endoplasmic reticulum membrane;Cytoplasmic vesicle NA PE1 4 +NX_A0AVK6 867 94166 9.11 0 Cytosol;Nucleus;Nucleolus;Nucleus NA PE1 11 +NX_A0AVT1 1052 117970 5.76 0 Cytoplasm;Cytosol;Nucleoplasm NA PE1 4 +NX_A0FGR8 921 102357 9.33 2 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA PE1 7 +NX_A0FGR9 886 100035 8.68 2 Cell membrane;Endoplasmic reticulum membrane NA PE1 3 +NX_A0JLT2 244 26273 9.83 0 Nucleus;Nucleus;Nucleus NA PE1 11 +NX_A0JNW5 1464 164199 5.89 0 Cell membrane NA PE1 12 +NX_A0JP26 581 65710 6.24 0 NA NA PE2 15 +NX_A0M8Q6 106 11254 8.5 0 Secreted;Cell membrane NA PE1 22 +NX_A0MZ66 631 71640 5.27 0 Perikaryon;Axon;Cytoskeleton;Filopodium;Nucleus;Growth cone;Lamellipodium;Cell membrane;Cytosol NA PE1 10 +NX_A0PG75 271 30027 5.12 0 NA NA PE2 3 +NX_A0PJE2 317 35146 6.84 0 Golgi apparatus;Nucleoplasm;Cytoplasmic vesicle NA PE2 13 +NX_A0PJK1 596 64342 7.55 14 Endoplasmic reticulum;Cell membrane NA PE1 17 +NX_A0PJW6 202 22049 11.03 2 Mitochondrion;Membrane;Nucleus;Nucleus membrane NA PE1 11 +NX_A0PJW8 107 11880 10 0 Nucleoplasm;Mitochondrion NA PE1 2 +NX_A0PJX0 185 21745 4.64 0 NA NA PE1 2 +NX_A0PJX2 215 23912 4.67 0 NA NA PE2 20 +NX_A0PJX4 238 25832 6.5 1 Cytosol;Lipid droplet;Endoplasmic reticulum membrane NA PE1 4 +NX_A0PJX8 343 37222 8.57 8 Membrane NA PE1 1 +NX_A0PJY2 475 52038 9.62 0 Nucleus;Nucleus;Cytosol Hypogonadotropic hypogonadism 22 with or without anosmia PE1 7 +NX_A0PJZ0 165 18446 8.26 0 NA NA PE5 18 +NX_A0PJZ3 443 51056 9.79 1 Midbody ring;Cytoskeleton;Nucleoplasm;Membrane NA PE1 3 +NX_A0PK00 339 40246 9.08 6 Nucleus inner membrane NA PE1 12 +NX_A0PK05 275 29891 6.07 4 Membrane NA PE1 10 +NX_A0PK11 232 25446 6.51 4 Membrane NA PE2 4 +NX_A0ZSE6 113 13039 8.2 1 Membrane NA PE2 3 +NX_A1A4F0 135 15626 9.28 0 Nucleoplasm;Nucleus NA PE2 3 +NX_A1A4G5 178 21321 8.59 0 Nucleus speckle;Cytoplasmic vesicle;Cytosol NA PE1 3 +NX_A1A4S6 786 89375 6.75 0 Cytoplasm;Perinuclear region;Cell membrane;Nucleoplasm;Cytosol;Nucleus membrane NA PE1 4 +NX_A1A4V9 331 37921 6.29 0 Cytosol NA PE1 16 +NX_A1A4Y4 181 20142 5.23 0 Phagocytic cup;Cell membrane;Phagosome membrane;Autophagosome membrane;Golgi apparatus membrane Inflammatory bowel disease 19 PE1 5 +NX_A1A519 330 37158 5 0 Nucleus NA PE1 5 +NX_A1A580 65 6892 5.26 0 NA NA PE1 21 +NX_A1A5B4 782 90333 8.45 8 Cell membrane;Golgi apparatus NA PE1 11 +NX_A1A5C7 686 73748 7.98 10 Cytosol;Cytoplasmic vesicle;Membrane;Nucleoplasm NA PE1 6 +NX_A1A5D9 508 56834 4.99 0 Cytoskeleton;Cytoskeleton;Cytosol NA PE1 16 +NX_A1E959 279 30777 4.49 0 Secreted;Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA PE1 4 +NX_A1IGU5 675 76278 6.47 0 Cytosol NA PE1 5 +NX_A1KXE4 195 20324 9.26 2 Nucleus;Cytoplasm;Perinuclear region;Cell membrane;Axon NA PE1 2 +NX_A1KZ92 1463 163686 7.25 0 Nucleoplasm;Cytosol;Cytoplasm;Secreted NA PE1 8 +NX_A1L020 520 54173 7.02 0 Cytosol;Cytoplasm;Nucleus;P-body NA PE1 1 +NX_A1L0T0 632 67868 8.42 1 Cytoplasmic vesicle;Membrane;Golgi apparatus NA PE1 19 +NX_A1L157 253 28245 7.53 4 Cytoplasmic vesicle;Membrane NA PE2 12 +NX_A1L162 156 17672 3.86 0 Cytoplasmic vesicle;Nucleolus NA PE1 2 +NX_A1L167 161 18338 7.74 0 Cell membrane;Nucleus;Nucleus NA PE1 5 +NX_A1L168 122 13591 9.13 0 NA NA PE2 20 +NX_A1L170 272 29057 5.19 0 Nucleoplasm NA PE1 1 +NX_A1L188 74 7756 9.56 0 Mitochondrion;Mitochondrion NA PE1 17 +NX_A1L190 88 10601 4.53 0 Nucleus;Nucleus;Chromosome;Nucleolus;Golgi apparatus NA PE1 22 +NX_A1L1A6 192 20591 6.28 1 Nucleus;Cell junction;Membrane NA PE2 19 +NX_A1L390 1219 134412 6.13 0 Centrosome;Cytoskeleton;Cytosol;Nucleoplasm;Cell membrane NA PE1 14 +NX_A1L3X0 281 33356 9.34 7 Endoplasmic reticulum membrane NA PE1 5 +NX_A1L3X4 49 4983 8.38 0 NA NA PE5 16 +NX_A1L429 117 12925 4.23 0 NA NA PE1 X +NX_A1L443 756 80770 8.51 0 NA NA PE2 9 +NX_A1L453 326 35356 6.04 0 Secreted NA PE1 1 +NX_A1L4H1 1573 165743 5.71 0 Nucleoplasm;Cytosol;Secreted;Cytoplasm NA PE1 19 +NX_A1L4K1 749 85385 4.81 0 Cytosol NA PE1 15 +NX_A1L4L8 177 19885 7.94 0 Nucleus NA PE2 5 +NX_A1L4Q6 167 18020 6.08 0 NA NA PE5 11 +NX_A1X283 911 101579 8.82 0 Cytoplasm;Nucleus;Podosome;Cell membrane;Nucleolus Frank-Ter Haar syndrome PE1 5 +NX_A1XBS5 289 33431 5.89 0 Cytoplasm;Centriole;Nucleus;Cilium basal body;Mitochondrion NA PE1 8 +NX_A1YPR0 619 69017 5.09 0 NA NA PE1 18 +NX_A1Z1Q3 448 50050 4.53 0 Centrosome;Nucleus;Nucleolus;Nucleus NA PE1 20 +NX_A2A288 527 58078 8.92 0 P-body;Cytoplasm;Nucleoplasm;Cytosol;Nucleus NA PE1 6 +NX_A2A2V5 107 11458 4.33 1 Cytoplasmic vesicle;Membrane NA PE2 13 +NX_A2A2Y4 597 68772 5.97 1 Golgi apparatus;Cell membrane;Nucleoplasm;Membrane NA PE1 9 +NX_A2A2Z9 1011 118231 8.35 0 NA NA PE1 9 +NX_A2A368 324 36178 5.25 0 NA NA PE4 X +NX_A2A3K4 754 84457 7.35 0 Nucleoplasm NA PE1 9 +NX_A2A3L6 582 63396 9.37 0 NA NA PE4 1 +NX_A2A3N6 862 95048 5.46 0 Cytoplasm NA PE5 10 +NX_A2AJT9 711 83871 9.71 0 Mitochondrion;Nucleoplasm NA PE1 X +NX_A2CJ06 578 65320 9.18 0 Cell membrane NA PE2 2 +NX_A2IDD5 438 48521 8.27 0 Sarcoplasmic reticulum;Sarcolemma;Perinuclear region;Centriole Myopathy, centronuclear, 4 PE1 16 +NX_A2NJV5 120 13085 6.7 0 Secreted;Cell membrane NA PE1 2 +NX_A2PYH4 1435 162610 6.66 0 Golgi apparatus;Cytoplasmic vesicle Premature ovarian failure 9 PE1 1 +NX_A2RRD8 509 59326 9.16 0 Cytosol;Nucleolus;Nucleus NA PE1 19 +NX_A2RRH5 827 90038 8.25 0 Nucleoplasm NA PE1 6 +NX_A2RRL7 107 11520 5.41 1 Membrane NA PE2 7 +NX_A2RRP1 2371 268571 5.65 0 Nucleus membrane;Cytoplasm;Nucleolus;Golgi apparatus;Endoplasmic reticulum;Endoplasmic reticulum membrane Infantile liver failure syndrome 2;Short stature, optic nerve atrophy, and Pelger-Huet anomaly PE1 2 +NX_A2RTX5 802 92646 5.74 0 Cytosol;Cytoplasm NA PE1 15 +NX_A2RTY3 570 65681 9.32 0 NA NA PE1 17 +NX_A2RU14 115 12459 6.7 3 Membrane;Cytosol;Cilium;Cell membrane NA PE1 11 +NX_A2RU30 521 59213 5.48 0 Cytoplasm;Endoplasmic reticulum membrane NA PE1 12 +NX_A2RU37 121 13369 10.58 0 NA NA PE2 9 +NX_A2RU48 225 24877 8.32 1 Membrane NA PE1 12 +NX_A2RU49 373 41933 6.36 0 Cytoplasmic vesicle;Cytoplasm NA PE1 15 +NX_A2RU54 273 29598 9.16 0 Nucleus NA PE1 10 +NX_A2RU67 622 67039 4.88 1 Endoplasmic reticulum;Membrane NA PE1 12 +NX_A2RUB1 952 107559 6.68 0 Cytoplasm;Cell junction;Nucleus NA PE1 17 +NX_A2RUB6 948 109411 8.47 0 Midbody ring;Cell junction;Microtubule organizing center NA PE1 3 +NX_A2RUC4 315 36548 7.1 0 Nucleus NA PE1 2 +NX_A2RUG3 117 12988 8.91 3 Membrane NA PE2 Y +NX_A2RUH7 354 38733 8.65 0 NA NA PE1 1 +NX_A2RUQ5 167 17761 10.63 0 NA NA PE2 17 +NX_A2RUR9 1427 165125 5.26 0 NA NA PE2 17 +NX_A2RUS2 1198 135890 6.63 0 Cytosol;Cytoplasm;Cytoplasmic vesicle NA PE1 8 +NX_A2RUT3 159 17572 10.06 1 Membrane NA PE1 3 +NX_A2RUU4 121 14057 8.92 0 Secreted NA PE2 6 +NX_A2VCK2 349 37665 9 0 NA NA PE1 1 +NX_A2VCL2 907 103842 8.13 0 NA NA PE2 6 +NX_A2VDF0 154 16765 5.49 0 NA NA PE1 10 +NX_A2VDJ0 1609 179339 6.43 1 Cell membrane;Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleolus NA PE1 4 +NX_A2VEC9 5147 547504 5.66 0 Extracellular space NA PE2 7 +NX_A3KFT3 312 35112 8.56 7 Cell membrane NA PE3 1 +NX_A3KMH1 1905 214824 7.01 0 Lipid droplet;Mitochondrion;Cytoplasmic vesicle NA PE1 13 +NX_A3KN83 1393 154312 7.96 0 Nucleoplasm NA PE1 12 +NX_A3QJZ6 481 55489 8.4 0 NA NA PE3 1 +NX_A3QJZ7 478 55206 8.58 0 NA NA PE3 1 +NX_A4D0S4 1761 193540 5.93 0 Basement membrane;Cytosol NA PE2 7 +NX_A4D0T2 115 13234 9.3 1 Membrane NA PE4 7 +NX_A4D0T7 59 6102 5.93 1 Membrane NA PE3 7 +NX_A4D0V7 1026 117491 8.41 0 Endoplasmic reticulum;Nucleus NA PE2 7 +NX_A4D0Y5 90 10046 6.55 0 NA NA PE4 7 +NX_A4D126 451 49873 5.86 0 Nucleolus;Nucleus;Cytosol Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7;Muscular dystrophy-dystroglycanopathy limb-girdle C7 PE1 7 +NX_A4D161 298 33083 6.33 0 Cytosol NA PE1 7 +NX_A4D174 169 19096 9.51 0 NA NA PE2 7 +NX_A4D1B5 854 97802 6.38 0 Cytoplasmic vesicle;trans-Golgi network NA PE1 7 +NX_A4D1E1 1349 152573 8.84 0 NA NA PE2 7 +NX_A4D1E9 387 42933 9.12 0 Nucleolus;Chromosome NA PE1 7 +NX_A4D1F6 860 98035 7.24 0 NA NA PE1 7 +NX_A4D1N5 150 16741 7.87 0 NA NA PE2 7 +NX_A4D1P6 747 83344 6.15 0 Early endosome membrane;Late endosome membrane;Nucleoplasm NA PE1 7 +NX_A4D1S0 409 42851 5.63 1 Membrane NA PE1 7 +NX_A4D1S5 217 24400 6.06 0 Cell membrane NA PE1 7 +NX_A4D1T9 235 26445 9.05 0 Acrosome;Secreted NA PE1 7 +NX_A4D1U4 455 51446 5.18 0 Golgi apparatus NA PE1 7 +NX_A4D1Z8 144 15999 6.28 0 NA NA PE2 7 +NX_A4D250 179 19503 4.86 0 NA NA PE2 7 +NX_A4D256 554 63299 8.86 1 Nucleolus;Membrane NA PE1 7 +NX_A4D263 438 49672 8.67 0 NA NA PE1 7 +NX_A4D2B0 266 27202 4.73 0 NA NA PE1 7 +NX_A4D2B8 440 47508 8.75 0 NA NA PE5 7 +NX_A4D2G3 310 34606 8.65 7 Cell membrane NA PE2 7 +NX_A4D2H0 777 87868 5.15 1 Membrane NA PE2 7 +NX_A4D2P6 1211 132276 7.11 0 Postsynaptic cell membrane NA PE1 7 +NX_A4FU01 709 79545 6.59 0 Centrosome NA PE1 1 +NX_A4FU28 777 87953 5.22 1 Membrane NA PE2 6 +NX_A4FU49 640 70519 5.6 0 Nucleus;Cell membrane NA PE1 1 +NX_A4FU69 1503 173404 5.58 0 NA NA PE1 17 +NX_A4GXA9 379 41178 5.97 0 Nucleus NA PE1 16 +NX_A4IF30 521 57809 9 10 Nucleolus;Membrane NA PE2 14 +NX_A4QMS7 147 16991 7.02 0 NA NA PE1 5 +NX_A4QN01 128 15288 9.18 0 NA NA PE2 10 +NX_A4QPB2 252 28483 5.92 0 Nucleoplasm NA PE2 22 +NX_A4QPH2 592 66944 6.68 0 NA NA PE5 22 +NX_A4UGR9 3374 382300 5.99 0 Cell junction NA PE1 2 +NX_A5A3E0 1075 121445 5.82 0 Cell cortex NA PE1 2 +NX_A5D6W6 292 32207 9.86 6 Endoplasmic reticulum membrane NA PE1 14 +NX_A5D8T8 446 49602 8.47 0 Secreted;Endoplasmic reticulum;Endosome;Golgi apparatus NA PE1 16 +NX_A5D8V6 355 38659 5.19 0 Late endosome membrane;Cytoplasmic vesicle;Nucleus NA PE1 11 +NX_A5D8V7 595 69140 9.11 0 Nucleoplasm;Cilium;Cilium basal body;Centriole;Cilium axoneme Ciliary dyskinesia, primary, 30 PE1 19 +NX_A5D8W1 941 105883 6.81 0 NA NA PE1 7 +NX_A5LHX3 300 32530 5.99 0 Cytoplasm;Nucleus NA PE1 14 +NX_A5PKW4 1024 109543 6.43 0 Cell membrane;Cytosol;Cell membrane;Nucleoplasm;Cleavage furrow;Ruffle membrane NA PE1 10 +NX_A5PL33 1030 107498 8.09 0 Nucleus;Cytosol NA PE1 7 +NX_A5PLK6 1076 125688 9.15 1 Membrane NA PE1 1 +NX_A5PLL1 514 56414 7.61 0 Cytoplasm;Nucleus;Lipid droplet NA PE1 5 +NX_A5PLL7 270 31135 6.33 3 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 20 +NX_A5PLN7 773 82698 9.53 0 Nucleus NA PE1 4 +NX_A5PLN9 417 46524 5.4 0 Cell membrane;Nucleus NA PE1 5 +NX_A5X5Y0 456 51438 6.46 4 Cell membrane NA PE1 3 +NX_A5YKK6 2376 266939 6.65 0 Cytosol;P-body;Nucleus NA PE1 16 +NX_A5YM69 484 53287 4.27 0 NA NA PE1 7 +NX_A5YM72 827 88484 5.83 0 NA NA PE1 11 +NX_A6BM72 1044 110844 5.78 1 Basolateral cell membrane;Cell membrane NA PE2 15 +NX_A6H8M9 788 85827 5.24 1 Membrane NA PE2 3 +NX_A6H8Y1 2624 293885 5.06 0 Nucleus NA PE1 5 +NX_A6H8Z2 402 45394 5.37 0 NA NA PE1 9 +NX_A6NC05 138 15764 9.26 0 Mitochondrion NA PE1 5 +NX_A6NC42 116 13498 9.26 0 Cytoplasm NA PE1 6 +NX_A6NC51 233 25701 9.05 6 Endosome membrane;Autophagosome membrane;Cell membrane NA PE2 19 +NX_A6NC57 917 106446 6.25 0 NA NA PE2 18 +NX_A6NC62 111 12297 9.05 0 NA NA PE5 7 +NX_A6NC78 632 71330 7.14 0 Golgi stack membrane NA PE5 15 +NX_A6NC86 204 21926 8.37 0 Cytoplasmic vesicle;Secreted NA PE1 19 +NX_A6NC97 362 41969 8.59 1 Membrane NA PE5 3 +NX_A6NC98 1476 164809 5.09 0 Centrosome;Nucleoplasm;Membrane;Golgi apparatus;Microtubule organizing center;Cytosol;Endoplasmic reticulum;Cytoplasm NA PE1 11 +NX_A6NCC3 632 71536 5.98 0 NA NA PE1 15 +NX_A6NCE7 125 14628 8.73 0 Autophagosome membrane;Cytoskeleton;Endomembrane system NA PE2 12 +NX_A6NCF5 533 57810 6.98 0 NA NA PE2 14 +NX_A6NCF6 341 37899 5.98 0 NA NA PE5 X +NX_A6NCI4 1184 134020 8.74 0 Secreted NA PE2 16 +NX_A6NCI5 91 10419 6.94 1 Membrane NA PE5 1 +NX_A6NCI8 922 100170 9.12 0 NA NA PE2 2 +NX_A6NCJ1 209 24176 9.14 0 Cell membrane;Endoplasmic reticulum;Cytosol NA PE1 19 +NX_A6NCK2 446 52310 8.07 0 NA NA PE3 2 +NX_A6NCL1 334 37887 5.79 0 Nucleus NA PE1 3 +NX_A6NCL2 159 17834 8.55 0 NA NA PE1 12 +NX_A6NCL7 494 53975 8.27 0 Mitochondrion NA PE1 5 +NX_A6NCM1 817 94931 9.3 0 NA NA PE1 7 +NX_A6NCN2 255 29117 5.64 0 NA NA PE5 12 +NX_A6NCN8 305 35334 10.17 0 NA NA PE1 12 +NX_A6NCQ9 220 23767 9.08 1 Membrane NA PE4 17 +NX_A6NCS4 301 32121 9.91 0 Nucleus Conotruncal heart malformations PE1 8 +NX_A6NCS6 295 30481 8.73 0 Cell membrane;Nucleus NA PE1 2 +NX_A6NCV1 312 35253 8.95 7 Cell membrane NA PE3 12 +NX_A6NCW0 530 59536 7.83 0 Nucleus;Endoplasmic reticulum NA PE3 8 +NX_A6NCW3 169 18250 7.7 0 NA NA PE3 1 +NX_A6NCW7 530 59636 7.1 0 Nucleus;Endoplasmic reticulum NA PE3 8 +NX_A6ND01 250 28672 5.88 0 Cell membrane NA PE1 11 +NX_A6ND36 823 90835 5.97 0 Cytosol;Nucleus;Cytosol NA PE1 17 +NX_A6ND48 311 35175 8.89 7 Cell membrane NA PE3 1 +NX_A6ND91 283 29946 6.79 0 NA NA PE1 19 +NX_A6NDA9 550 60168 5.65 1 Membrane NA PE1 10 +NX_A6NDB9 673 71695 4.53 0 Cell membrane;Nucleus;Cell membrane;Nucleoplasm;Cytoplasm NA PE1 19 +NX_A6NDD5 238 25796 4.55 2 Membrane;cis-Golgi network NA PE2 14 +NX_A6NDE4 496 55835 9.96 0 Nucleus NA PE2 Y +NX_A6NDE8 117 12924 4.33 0 NA NA PE2 X +NX_A6NDG6 321 34006 5.85 0 Nucleus NA PE1 16 +NX_A6NDH6 313 35352 8.77 7 Cell membrane NA PE3 3 +NX_A6NDI0 452 52747 7.06 0 NA NA PE2 11 +NX_A6NDK9 693 79884 5.31 0 NA NA PE3 15 +NX_A6NDL7 271 31188 5.73 0 NA NA PE5 13 +NX_A6NDL8 312 35296 9.01 7 Cell membrane NA PE3 12 +NX_A6NDN3 693 79913 5.4 0 NA NA PE3 15 +NX_A6NDN8 102 10909 8.84 0 NA NA PE4 11 +NX_A6NDP7 307 32967 8.82 7 Membrane NA PE2 17 +NX_A6NDR6 274 30204 4.84 0 Nucleus NA PE5 17 +NX_A6NDS4 549 62320 9.25 0 Cell membrane NA PE2 17 +NX_A6NDU8 294 33620 5.15 0 Nucleoplasm;Cytosol NA PE1 5 +NX_A6NDV4 472 51941 8.35 7 Cytoplasmic vesicle;Cell membrane;Nucleus;Mitochondrion;Endoplasmic reticulum;Cytoplasm NA PE1 9 +NX_A6NDX4 124 13671 8.96 1 Membrane NA PE5 15 +NX_A6NDX5 716 83235 9.69 0 Nucleus NA PE5 20 +NX_A6NDY0 278 30386 4.84 0 Cytoplasm NA PE2 16 +NX_A6NDY2 464 49635 9.76 0 NA NA PE5 8 +NX_A6NDZ8 208 23121 11.45 0 NA NA PE5 19 +NX_A6NE01 2351 262758 8.66 0 NA NA PE1 12 +NX_A6NE02 478 52471 8.91 0 Secreted NA PE1 17 +NX_A6NE21 464 49680 9.93 0 NA NA PE5 8 +NX_A6NE52 1622 180307 7.56 0 NA NA PE1 8 +NX_A6NE82 208 23095 11.45 0 NA NA PE5 19 +NX_A6NEC2 478 53747 5.17 0 NA NA PE1 17 +NX_A6NED2 376 40079 5.18 0 Cytosol;Cell membrane;Chromosome NA PE1 15 +NX_A6NEE1 506 59203 6.1 0 NA NA PE1 14 +NX_A6NEF3 574 67563 4.81 0 NA NA PE3 15 +NX_A6NEH6 219 25168 5.51 2 Membrane NA PE1 2 +NX_A6NEH8 195 20902 11.72 0 NA NA PE5 10 +NX_A6NEK1 342 38383 6.22 0 NA NA PE1 19 +NX_A6NEL2 793 85742 9.64 0 Nucleolus NA PE1 4 +NX_A6NEL3 165 18478 8.19 0 NA NA PE5 11 +NX_A6NEM1 432 49193 5.08 0 NA NA PE1 15 +NX_A6NEN9 183 21305 10.33 0 NA NA PE1 X +NX_A6NEQ0 496 55759 9.95 0 Nucleus NA PE2 Y +NX_A6NEQ2 426 42657 5.39 0 Nucleus membrane;Mitochondrion NA PE2 11 +NX_A6NER0 549 62185 9.24 0 Cell membrane NA PE2 17 +NX_A6NER3 117 12896 4.22 0 NA NA PE2 X +NX_A6NES4 1674 189561 6.23 0 Cytosol NA PE1 2 +NX_A6NET4 321 36711 8.32 7 Cell membrane NA PE3 3 +NX_A6NEV1 266 28155 4.57 0 NA NA PE3 3 +NX_A6NEW6 464 49759 9.95 0 NA NA PE5 8 +NX_A6NEY3 463 55643 4.81 0 NA NA PE5 15 +NX_A6NEY8 169 18658 5.82 0 NA NA PE5 2 +NX_A6NF01 834 83015 9.95 0 Nuclear pore complex NA PE5 7 +NX_A6NF34 631 70629 8.78 1 Membrane NA PE1 10 +NX_A6NF36 153 17536 6.19 0 NA NA PE2 17 +NX_A6NF83 97 11356 10.5 0 Nucleus NA PE1 7 +NX_A6NF89 314 35963 8.98 7 Cell membrane NA PE3 12 +NX_A6NFA0 338 37613 8.24 1 Membrane NA PE1 9 +NX_A6NFA1 517 57421 6.19 1 Cell membrane NA PE1 1 +NX_A6NFC5 223 23360 5.56 3 Membrane;Endoplasmic reticulum NA PE2 17 +NX_A6NFC9 320 35528 6.35 4 Cell membrane NA PE5 1 +NX_A6NFD8 242 26913 9.39 0 Nucleus NA PE2 4 +NX_A6NFE2 343 39487 4.74 1 Membrane NA PE2 12 +NX_A6NFE3 127 14721 5.28 0 NA NA PE1 7 +NX_A6NFF2 107 12045 6.13 0 NA NA PE5 X +NX_A6NFH5 140 15565 7.71 0 NA NA PE1 8 +NX_A6NFI3 1004 108437 5.18 0 Nucleus NA PE1 7 +NX_A6NFK2 248 28284 6.26 0 Stereocilium Deafness, autosomal recessive, 101 PE3 5 +NX_A6NFN3 312 33873 6.71 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 17 +NX_A6NFN9 424 47648 9.13 0 NA NA PE2 3 +NX_A6NFQ2 919 100906 6.75 0 Cell junction;Endoplasmic reticulum;Cell membrane;Cell membrane NA PE1 7 +NX_A6NFQ7 191 21648 9.55 0 Nucleus NA PE3 19 +NX_A6NFR6 353 39250 9.54 1 Membrane NA PE1 5 +NX_A6NFT4 308 35914 7.01 0 Cilium axoneme NA PE2 12 +NX_A6NFU0 413 47349 8.23 1 Membrane NA PE1 17 +NX_A6NFU8 196 21631 8.26 0 NA NA PE2 15 +NX_A6NFX1 497 52964 9.03 10 Membrane NA PE1 2 +NX_A6NFY4 417 48664 8.63 5 Nucleoplasm;Nucleus inner membrane NA PE1 2 +NX_A6NFY7 115 12806 11.39 0 Mitochondrion matrix;Mitochondrion Mitochondrial complex II deficiency PE1 19 +NX_A6NFZ4 105 11258 8.08 0 Secreted NA PE1 10 +NX_A6NG13 374 43743 9.62 1 Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE2 4 +NX_A6NGA9 273 31353 8.84 4 Membrane NA PE2 15 +NX_A6NGB0 347 39292 8.72 1 Membrane NA PE3 22 +NX_A6NGB7 291 30293 8.62 4 Nucleus membrane;Membrane NA PE1 19 +NX_A6NGB9 483 49458 10.16 0 Mitochondrion;Cytoplasm NA PE1 7 +NX_A6NGC4 264 28733 10.14 6 Nucleolus;Cytoplasmic vesicle;Membrane NA PE1 17 +NX_A6NGD5 496 55729 8.32 0 Nucleus NA PE5 19 +NX_A6NGE4 600 67373 4.75 0 NA NA PE1 X +NX_A6NGE7 173 19130 5.78 0 Peroxisome NA PE5 13 +NX_A6NGG3 77 8520 9.6 0 NA NA PE4 9 +NX_A6NGG8 1288 139655 8.4 0 Photoreceptor outer segment Retinitis pigmentosa 54 PE1 2 +NX_A6NGH7 325 38277 5.35 0 NA NA PE1 X +NX_A6NGH8 418 46141 9.1 0 NA NA PE2 7 +NX_A6NGJ6 449 51566 5.01 0 NA NA PE2 11 +NX_A6NGK3 116 12651 4.3 0 NA NA PE1 X +NX_A6NGN4 478 55354 8.95 0 NA NA PE3 1 +NX_A6NGN9 336 36795 6.96 0 Nucleus;Secreted NA PE1 19 +NX_A6NGQ2 149 17170 6.59 0 Cytoplasm NA PE1 6 +NX_A6NGR9 719 77186 9.88 0 Nucleus NA PE1 8 +NX_A6NGS2 130 14477 4.26 0 Nucleoplasm;Cytosol NA PE1 19 +NX_A6NGU5 568 61502 6.68 1 Membrane NA PE5 22 +NX_A6NGU7 62 7222 10.44 0 NA NA PE4 X +NX_A6NGW2 1772 192437 5.26 0 Secreted NA PE5 15 +NX_A6NGY1 282 30798 7.09 0 Nucleus NA PE3 3 +NX_A6NGY3 159 17908 10.21 0 NA NA PE1 5 +NX_A6NGY5 319 35849 8.3 7 Cell membrane NA PE3 11 +NX_A6NGZ8 99 10777 8.46 1 Cell membrane NA PE3 X +NX_A6NH00 312 34659 8.66 7 Cell membrane NA PE3 1 +NX_A6NH11 291 31642 10.19 0 Cytoplasmic vesicle NA PE1 17 +NX_A6NH13 148 15587 9.94 0 NA NA PE2 10 +NX_A6NH21 518 56870 8.75 10 Membrane NA PE2 15 +NX_A6NH52 213 24111 6.51 4 Cytoplasmic vesicle;Membrane NA PE2 16 +NX_A6NH57 179 20591 5.44 0 NA NA PE3 17 +NX_A6NHA9 309 34533 8.19 7 Cell membrane NA PE3 11 +NX_A6NHC0 703 79144 5.1 0 Nucleus membrane;Nucleoplasm;Cytoplasm;Golgi apparatus;Cytoplasmic vesicle NA PE1 1 +NX_A6NHG4 134 14195 5.89 0 Cytoplasm NA PE2 22 +NX_A6NHG9 310 35099 8.72 7 Cell membrane NA PE2 3 +NX_A6NHJ4 632 73757 9.46 0 Nucleus;Nucleolus;Nucleus NA PE1 3 +NX_A6NHL2 446 49909 5.68 0 Cytoskeleton NA PE1 10 +NX_A6NHM9 499 56320 4.65 0 NA NA PE5 7 +NX_A6NHN0 477 49422 8.6 0 Secreted NA PE3 3 +NX_A6NHN6 443 51267 10.5 0 Secreted NA PE2 16 +NX_A6NHP3 402 48290 9.78 0 NA NA PE3 7 +NX_A6NHQ2 334 34803 10.35 0 Nucleolus NA PE1 5 +NX_A6NHQ4 379 39322 9.77 0 Cytosol;Chromosome;Nucleoplasm;Nucleus;Cytosol NA PE1 17 +NX_A6NHR8 397 46757 9.11 0 NA NA PE5 X +NX_A6NHR9 2005 226374 6.95 0 Chromosome;Nucleus;Nucleoplasm Facioscapulohumeral muscular dystrophy 2;Bosma arhinia microphthalmia syndrome PE1 18 +NX_A6NHS1 94 10211 4.1 0 NA NA PE5 11 +NX_A6NHS7 340 37879 8.33 1 Membrane NA PE3 12 +NX_A6NHT5 357 37825 7.85 0 Microtubule organizing center;Nucleus;Nucleus NA PE1 10 +NX_A6NHX0 329 36056 5.02 0 Cytosol NA PE1 7 +NX_A6NHY2 528 59088 8.33 0 NA NA PE4 5 +NX_A6NHY6 69 7904 8.42 0 NA NA PE4 9 +NX_A6NHZ5 514 56758 6.74 0 NA NA PE1 5 +NX_A6NI03 449 51557 5.1 0 NA NA PE5 11 +NX_A6NI15 193 20778 9.03 0 Nucleus NA PE3 2 +NX_A6NI28 874 98569 8.18 0 Nucleus speckle NA PE1 11 +NX_A6NI47 508 57067 6.64 0 NA NA PE3 14 +NX_A6NI56 674 76013 8.62 0 Early endosome;Golgi apparatus;Cell membrane NA PE1 16 +NX_A6NI61 221 24699 8.98 6 Cell membrane Carey-Fineman-Ziter syndrome PE1 9 +NX_A6NI72 391 44817 9.2 0 Cytoplasm NA PE5 7 +NX_A6NI73 299 32755 6.5 1 Secreted;Cell membrane NA PE1 19 +NX_A6NI79 296 34796 5.57 0 Cytoskeleton;Cell membrane;Golgi apparatus;Spindle;Midbody NA PE1 5 +NX_A6NI86 522 60902 4.83 0 NA NA PE3 15 +NX_A6NI87 242 27343 10.65 0 NA NA PE1 5 +NX_A6NIE6 340 38035 5.02 0 NA NA PE5 16 +NX_A6NIE9 313 34063 6.58 0 Secreted NA PE5 16 +NX_A6NIH7 251 28137 5.45 0 Cilium NA PE1 12 +NX_A6NIJ5 464 50026 9.93 0 NA NA PE5 8 +NX_A6NIJ9 312 35468 9.17 7 Cell membrane NA PE3 12 +NX_A6NIK2 292 32714 6.88 0 Nucleolus;Nucleus NA PE2 11 +NX_A6NIL9 109 12312 8.89 1 Membrane NA PE5 16 +NX_A6NIM6 579 65263 7.77 11 Membrane NA PE3 12 +NX_A6NIN4 97 10921 5.89 0 NA NA PE5 17 +NX_A6NIR3 686 75492 6.28 0 NA NA PE2 10 +NX_A6NIU2 74 8470 4.97 0 NA NA PE5 21 +NX_A6NIV6 560 63977 8.43 0 NA NA PE1 3 +NX_A6NIX2 430 45124 8.53 0 Nucleus;P-body;Adherens junction NA PE1 19 +NX_A6NIY4 337 40483 9.59 0 NA NA PE5 7 +NX_A6NIZ1 184 20925 5.37 0 Cell membrane;Cytosol NA PE2 5 +NX_A6NJ08 208 22976 11.47 0 NA NA PE5 19 +NX_A6NJ46 265 28948 9.3 0 Nucleus NA PE2 8 +NX_A6NJ64 397 45575 9.95 0 Nucleus NA PE5 16 +NX_A6NJ69 53 5937 9.13 0 Secreted;Cytoplasmic vesicle NA PE2 5 +NX_A6NJ78 407 46121 8.8 0 Cytoskeleton;Cell membrane;Golgi apparatus NA PE1 11 +NX_A6NJ88 616 69022 5.68 0 NA NA PE5 X +NX_A6NJB7 356 38716 10.48 0 Nucleus;Nucleus;Nucleolus NA PE1 19 +NX_A6NJG2 315 33803 9.62 0 NA NA PE1 X +NX_A6NJG6 315 35617 6.84 0 Nucleus NA PE2 3 +NX_A6NJI1 115 13172 11.47 0 NA NA PE2 11 +NX_A6NJI9 287 33656 8.92 0 NA NA PE1 7 +NX_A6NJJ6 358 39779 4.78 0 NA NA PE3 19 +NX_A6NJL1 495 55826 8.88 0 Nucleus NA PE3 19 +NX_A6NJQ4 464 49661 9.91 0 NA NA PE5 8 +NX_A6NJR5 290 34699 5.99 0 NA NA PE5 7 +NX_A6NJT0 531 53690 6.74 0 Nucleoplasm;Nucleus NA PE1 7 +NX_A6NJU9 1138 125964 9.9 1 Membrane NA PE3 16 +NX_A6NJV1 201 23421 10 0 Cytoplasmic vesicle;Nucleus;Cytosol NA PE1 2 +NX_A6NJW4 275 29314 6.15 1 Membrane NA PE2 17 +NX_A6NJW9 211 23768 9.88 1 Cell membrane NA PE5 2 +NX_A6NJY1 282 30828 7.66 7 Membrane NA PE5 Y +NX_A6NJY4 79 8713 4.43 2 Membrane NA PE5 17 +NX_A6NJZ3 312 35198 8.87 7 Cell membrane NA PE2 12 +NX_A6NJZ7 1639 180950 6.34 0 Cytoskeleton NA PE1 22 +NX_A6NK02 468 53678 7.79 0 NA NA PE5 4 +NX_A6NK06 481 52628 7.01 0 Mitochondrion NA PE1 13 +NX_A6NK44 160 18322 7.7 0 Mitochondrion NA PE1 X +NX_A6NK53 670 76861 8.61 0 Nucleoplasm;Nucleus NA PE2 19 +NX_A6NK58 231 25195 8.63 0 Cytoplasmic vesicle;Centrosome;Mitochondrion NA PE1 11 +NX_A6NK59 587 65331 6.24 0 NA NA PE2 3 +NX_A6NK75 572 65799 9.33 0 Nucleus NA PE1 19 +NX_A6NK89 507 56900 5.29 0 Cytosol;Centrosome;Spindle pole NA PE1 11 +NX_A6NK97 555 60459 8.63 11 Membrane NA PE2 11 +NX_A6NKB5 2137 237277 6.29 15 Membrane;Endoplasmic reticulum NA PE2 1 +NX_A6NKC0 464 49804 9.88 0 NA NA PE5 8 +NX_A6NKC9 451 49807 5.99 0 NA NA PE4 15 +NX_A6NKD2 308 35100 5.3 0 Cytoplasm;Nucleus NA PE2 Y +NX_A6NKD9 419 45210 6.48 0 Tight junction;Cell junction;Nucleus speckle NA PE1 14 +NX_A6NKF1 404 43553 9.04 0 Cytosol;Centrosome;Spindle NA PE1 11 +NX_A6NKF2 412 44073 5.34 0 Nucleus NA PE3 9 +NX_A6NKF7 163 17097 8.53 2 Membrane NA PE1 1 +NX_A6NKG5 1358 155048 5.09 2 Cytosol;Membrane NA PE1 14 +NX_A6NKH3 93 10583 10.22 0 NA NA PE5 11 +NX_A6NKK0 313 35387 8.8 7 Cell membrane NA PE2 3 +NX_A6NKL6 621 63928 10.1 2 Membrane;Cytoskeleton NA PE1 18 +NX_A6NKN8 68 7476 6.28 0 Nucleoplasm;Mitochondrion NA PE1 1 +NX_A6NKP2 422 46869 9.66 0 NA NA PE3 16 +NX_A6NKQ9 187 20468 9.02 0 Secreted NA PE2 19 +NX_A6NKT7 1758 197487 5.95 0 NA NA PE2 2 +NX_A6NKU9 549 63895 6.06 0 NA NA PE2 7 +NX_A6NKW6 160 17663 5.88 1 Membrane NA PE3 5 +NX_A6NKX1 122 13778 10.05 0 NA NA PE3 X +NX_A6NKX4 558 58987 9.89 12 Membrane NA PE2 16 +NX_A6NL05 159 18299 9.63 1 Membrane NA PE3 9 +NX_A6NL08 312 35372 9.29 7 Cell membrane NA PE3 12 +NX_A6NL26 309 34174 6.73 7 Cell membrane NA PE3 11 +NX_A6NL46 340 37797 10.95 0 NA NA PE3 6 +NX_A6NL82 134 15996 8.67 0 NA NA PE1 1 +NX_A6NL88 538 56214 10.06 1 Membrane NA PE1 19 +NX_A6NL99 342 37357 7.83 8 Membrane NA PE5 9 +NX_A6NLC5 250 27769 4.85 0 Cytosol NA PE1 3 +NX_A6NLC8 198 21962 5.72 0 NA NA PE1 5 +NX_A6NLE4 172 20025 4.76 1 Cell membrane NA PE2 5 +NX_A6NLF2 546 59772 9.86 0 Nucleus NA PE3 18 +NX_A6NLI5 447 51329 5.31 0 NA NA PE5 11 +NX_A6NLJ0 364 38769 11.07 0 Nucleus NA PE1 15 +NX_A6NLP5 189 20896 5.02 0 Nucleoplasm NA PE1 11 +NX_A6NLU0 287 32238 7.89 0 NA NA PE1 19 +NX_A6NLU5 285 30297 7.88 1 Membrane NA PE1 19 +NX_A6NLW8 204 23817 9.51 0 Nucleus NA PE3 19 +NX_A6NLX3 237 27806 4.93 0 NA NA PE2 17 +NX_A6NLX4 147 15516 4.19 1 Membrane NA PE1 9 +NX_A6NM03 316 35270 8.79 7 Cell membrane NA PE3 11 +NX_A6NM10 295 31475 8.18 6 Membrane NA PE2 2 +NX_A6NM11 1700 188393 5.33 1 Membrane NA PE1 17 +NX_A6NM28 416 45791 10.23 0 Nucleus NA PE1 X +NX_A6NM36 301 34034 9.48 0 NA NA PE4 18 +NX_A6NM43 557 59514 5.91 0 Cytoplasm NA PE5 7 +NX_A6NM45 220 24421 4.87 4 Tight junction;Cell membrane NA PE5 4 +NX_A6NM62 1247 140742 8.11 1 Membrane NA PE4 1 +NX_A6NM66 108 11668 8.23 0 NA NA PE4 21 +NX_A6NM76 312 35119 9.04 7 Cell membrane NA PE3 12 +NX_A6NMA1 111 12326 3.47 0 NA NA PE1 X +NX_A6NMB1 481 52992 9.28 1 Membrane NA PE2 19 +NX_A6NMB9 653 66603 6.3 0 NA NA PE5 12 +NX_A6NMD0 228 24599 6.59 2 Cell membrane NA PE1 11 +NX_A6NMD2 632 71775 8.5 0 NA NA PE3 15 +NX_A6NMK7 179 20727 8.93 0 NA NA PE2 17 +NX_A6NMK8 535 59204 8.39 0 NA NA PE2 5 +NX_A6NML5 194 21425 8.15 5 Nucleolus;Endoplasmic reticulum;Membrane NA PE2 3 +NX_A6NMN3 283 32092 4.67 0 Acrosome;Acrosome outer membrane NA PE1 10 +NX_A6NMS3 321 36711 8.44 7 Cell membrane NA PE3 3 +NX_A6NMS7 1700 188258 5.32 1 Membrane NA PE1 17 +NX_A6NMT0 343 37283 9.54 0 Nucleus NA PE3 11 +NX_A6NMU1 304 34901 8.28 7 Cell membrane NA PE2 11 +NX_A6NMX2 242 27596 6.68 0 NA NA PE1 5 +NX_A6NMY6 339 38659 6.49 0 Basement membrane;Melanosome NA PE5 9 +NX_A6NMZ2 147 16468 8.43 0 Cilium NA PE1 3 +NX_A6NMZ5 311 35341 7.99 7 Cell membrane NA PE3 11 +NX_A6NMZ7 2263 247173 6.44 0 Extracellular matrix NA PE1 3 +NX_A6NN06 94 10596 11.9 0 NA NA PE5 9 +NX_A6NN14 1252 145022 9.58 0 Nucleus NA PE2 19 +NX_A6NN73 597 67128 8.72 0 NA NA PE3 15 +NX_A6NN90 581 63053 5.44 0 Nucleolus;Nucleus NA PE1 2 +NX_A6NN92 205 23755 8.68 4 Cell membrane;Gap junction NA PE3 6 +NX_A6NNA2 597 65249 11.68 0 Cell membrane;Cytoskeleton;Cytoskeleton NA PE2 7 +NX_A6NNA5 263 28672 8.74 0 Nucleolus;Cytosol;Nucleus;Nucleus NA PE3 10 +NX_A6NNB3 132 14378 8.48 2 Cell membrane Osteogenesis imperfecta 5 PE1 11 +NX_A6NNC1 897 94058 10.28 1 Membrane NA PE5 5 +NX_A6NND4 320 35503 6.21 7 Cell membrane NA PE2 11 +NX_A6NNE9 402 43878 6.47 2 Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA PE1 5 +NX_A6NNF4 738 85539 9.27 0 Nucleus NA PE2 19 +NX_A6NNH2 459 49646 9.97 0 NA NA PE1 19 +NX_A6NNJ1 464 49738 9.91 0 NA NA PE5 8 +NX_A6NNL0 878 93984 8.12 0 NA NA PE3 10 +NX_A6NNL5 157 18091 9.9 0 Cytoplasmic vesicle;Cytosol;Nucleolus;Secreted NA PE1 15 +NX_A6NNM3 1639 180952 6.34 0 Cytoskeleton NA PE2 22 +NX_A6NNM8 815 93645 9.12 0 NA NA PE1 15 +NX_A6NNN8 435 46731 7.42 11 Membrane Foveal hypoplasia 2 PE1 16 +NX_A6NNP5 214 25253 9.33 0 NA NA PE2 13 +NX_A6NNS2 312 34878 8.72 0 Secreted NA PE1 17 +NX_A6NNT2 1141 125041 6.58 0 NA NA PE1 16 +NX_A6NNV3 312 37499 8.38 0 NA NA PE5 7 +NX_A6NNW6 628 68821 5.7 0 Mitochondrion NA PE1 10 +NX_A6NNX1 92 10810 9.57 0 Nucleoplasm;Cytosol NA PE1 1 +NX_A6NNY8 438 49630 6.75 0 Cytosol;Nucleus;Cytoplasmic vesicle Mental retardation, X-linked 105 PE1 X +NX_A6NNZ2 444 49573 4.75 0 Cytoskeleton NA PE1 18 +NX_A6NP11 495 57006 9.34 0 Nucleus NA PE2 7 +NX_A6NP61 321 36010 9.27 0 NA NA PE1 13 +NX_A6PVC2 850 94676 8.55 0 Cytoskeleton;Cilium;Cilium axoneme NA PE2 22 +NX_A6PVI3 153 17685 6.89 0 NA NA PE3 X +NX_A6PVL3 124 12832 9.51 2 Membrane NA PE2 1 +NX_A6PVS8 624 73675 9.73 0 Cell membrane NA PE1 1 +NX_A6PVY3 158 18145 4.84 0 NA NA PE1 1 +NX_A6QL63 1104 120884 6.36 1 Nucleoplasm;Membrane NA PE1 12 +NX_A6QL64 1941 217465 8.84 0 NA NA PE1 2 +NX_A6XGL0 299 32585 5.75 0 Mitochondrion NA PE1 19 +NX_A6ZKI3 113 13171 4.94 0 NA NA PE1 X +NX_A7E2F4 631 70117 5.89 0 Golgi stack membrane NA PE2 15 +NX_A7E2S9 258 28549 7.05 0 NA NA PE2 2 +NX_A7E2U8 309 34376 9.64 0 Centrosome;Cytoplasmic vesicle NA PE1 4 +NX_A7E2V4 1837 197297 6.35 0 Cell membrane;Cytosol NA PE1 10 +NX_A7E2Y1 1941 221388 5.77 0 Membrane NA PE1 20 +NX_A7KAX9 2087 230529 6.27 0 Nucleolus;Golgi apparatus membrane;Postsynaptic density;Dendritic spine;Endosome membrane;Cell cortex;Membrane;Endoplasmic reticulum membrane;Golgi apparatus;Nucleoplasm NA PE1 11 +NX_A7MBM2 1401 152003 8.18 12 Membrane;Cytoplasmic vesicle;Nucleoplasm NA PE1 15 +NX_A7MCY6 615 67702 5.62 0 Nucleoplasm NA PE1 17 +NX_A7MD48 611 68559 11.75 0 Nucleus NA PE1 12 +NX_A7XYQ1 873 92658 7.77 0 Cytoplasmic vesicle;Nucleoplasm Mental retardation, anterior maxillary protrusion, and strabismus PE1 6 +NX_A8CG34 1229 125059 10.38 1 Nucleus membrane;Endoplasmic reticulum membrane;Nuclear pore complex NA PE1 7 +NX_A8K010 186 21118 10.18 0 NA NA PE5 6 +NX_A8K0R7 811 87484 6.11 0 Cytoplasm;Cell membrane;Nucleoplasm NA PE1 14 +NX_A8K0S8 358 39220 4.89 0 Nucleus NA PE2 17 +NX_A8K0Z3 465 50328 5.49 0 Early endosome membrane;Centriole;Recycling endosome membrane;Late endosome;Autophagosome NA PE1 9 +NX_A8K2U0 1454 161107 5.5 0 Secreted NA PE1 12 +NX_A8K4G0 201 22689 6.83 1 Cell membrane NA PE1 17 +NX_A8K554 130 15437 6.04 0 NA NA PE5 7 +NX_A8K5M9 175 19679 8.66 0 Mitochondrion NA PE1 15 +NX_A8K7I4 914 100226 5.97 0 Extracellular space;Cell membrane NA PE1 1 +NX_A8K830 154 16850 4.27 0 Cytoplasm NA PE2 11 +NX_A8K855 629 71981 6.01 0 Nucleolus;Cytosol;Cilium membrane;Cell membrane;Nucleus NA PE1 1 +NX_A8K8P3 1242 147664 10.82 0 Centriole NA PE1 22 +NX_A8K8V0 405 46168 9.28 0 Cell membrane;Nucleoplasm;Nucleus NA PE1 16 +NX_A8K979 691 77401 9.12 0 Nucleus;Golgi apparatus NA PE1 16 +NX_A8MPP1 907 101811 7.28 0 Nucleolus NA PE1 12 +NX_A8MPS7 323 34466 5.96 0 Nucleoplasm NA PE1 22 +NX_A8MPX8 630 71643 8.93 0 Nucleoplasm;Cytoskeleton NA PE2 3 +NX_A8MPY1 467 54272 8.33 4 Postsynaptic cell membrane;Cell membrane NA PE3 3 +NX_A8MQ03 144 15313 6.67 0 Endoplasmic reticulum;Midbody;Nucleus speckle;Cytoplasmic vesicle NA PE1 9 +NX_A8MQ11 134 15170 10.61 0 NA NA PE5 7 +NX_A8MQ14 1090 125431 9.02 0 Nucleoplasm;Nucleus NA PE1 19 +NX_A8MQ27 555 59270 8.76 0 Cytoplasmic vesicle;Cytoplasm NA PE1 5 +NX_A8MQB3 221 24325 9.82 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA PE1 17 +NX_A8MQT2 603 67278 6.46 0 Golgi stack membrane NA PE2 15 +NX_A8MRT5 1133 126459 10.12 1 Membrane NA PE2 16 +NX_A8MSI8 78 9374 9.69 0 NA NA PE1 17 +NX_A8MT19 583 65945 6.51 0 NA NA PE5 15 +NX_A8MT33 242 27397 4.99 0 Cytoskeleton NA PE1 16 +NX_A8MT65 544 63592 9.01 0 Nucleus NA PE2 12 +NX_A8MT66 165 19292 6.16 0 NA NA PE5 21 +NX_A8MT69 81 8959 5.59 0 Nucleus;Centromere;Kinetochore NA PE1 17 +NX_A8MT70 800 91426 5.43 0 NA NA PE1 3 +NX_A8MT82 685 75435 6.41 0 NA NA PE3 10 +NX_A8MTA8 275 30575 8.38 0 NA NA PE1 9 +NX_A8MTB9 384 43320 5.94 0 Midbody NA PE2 19 +NX_A8MTI9 375 41188 9 0 Secreted NA PE5 9 +NX_A8MTJ3 354 40357 5.69 0 Cytoplasm NA PE1 7 +NX_A8MTJ6 420 43326 8.51 0 Nucleus NA PE2 2 +NX_A8MTL0 148 18048 10.05 0 NA NA PE1 3 +NX_A8MTL3 300 33570 9.78 0 NA NA PE2 14 +NX_A8MTL9 139 15355 5.27 0 Secreted NA PE2 18 +NX_A8MTQ0 251 27003 9.43 0 Nucleus NA PE2 2 +NX_A8MTT3 80 9336 9.7 1 Nucleoplasm;Mitochondrion membrane NA PE1 2 +NX_A8MTW9 85 8750 10.5 0 Secreted NA PE5 2 +NX_A8MTY0 619 71172 9.29 0 Nucleus NA PE1 19 +NX_A8MTY7 169 17793 8.01 0 NA NA PE3 17 +NX_A8MTZ0 92 10506 9.42 0 Cilium;Cytoplasm Bardet-Biedl syndrome 18 PE1 10 +NX_A8MTZ7 269 30355 5.21 0 NA NA PE1 12 +NX_A8MU10 97 10262 9.79 0 NA NA PE4 17 +NX_A8MU46 457 48953 4.7 0 Myofibril;I band;M line;Nucleus NA PE1 11 +NX_A8MU76 341 37608 10.73 0 NA NA PE3 16 +NX_A8MU93 164 18001 11.39 0 Cytosol;Nucleus;Cytoskeleton NA PE1 17 +NX_A8MUA0 341 37841 10.75 0 NA NA PE3 2 +NX_A8MUH7 402 44056 5.4 0 NA NA PE5 1 +NX_A8MUI8 341 37626 9.9 0 NA NA PE3 1 +NX_A8MUK1 530 59683 8.35 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_A8MUL3 147 15836 7.71 0 NA NA PE5 10 +NX_A8MUM7 142 16576 5.53 0 NA NA PE2 19 +NX_A8MUN3 132 14205 9.1 0 Secreted NA PE5 17 +NX_A8MUP2 240 25910 5.51 0 Mitochondrion NA PE2 11 +NX_A8MUP6 293 32443 6.3 4 Membrane NA PE3 17 +NX_A8MUU1 101 11299 7.66 0 NA NA PE5 7 +NX_A8MUU9 505 55306 13.3 0 NA NA PE5 22 +NX_A8MUV8 499 57972 9.3 0 Nucleus NA PE5 7 +NX_A8MUX0 517 53912 5.37 0 NA NA PE1 17 +NX_A8MUZ8 300 34765 9.37 0 Nucleus NA PE2 8 +NX_A8MV23 424 46963 6.7 0 Secreted NA PE1 13 +NX_A8MV24 154 17565 9.8 0 NA NA PE1 17 +NX_A8MV57 137 15138 5.89 0 NA NA PE5 1 +NX_A8MV65 326 36009 5.9 0 Cytosol;Nucleolus;Nucleus NA PE1 3 +NX_A8MV72 311 34164 10.58 0 NA NA PE5 8 +NX_A8MV81 97 11079 9.72 2 Membrane NA PE3 12 +NX_A8MVA2 160 16800 7.95 0 NA NA PE1 17 +NX_A8MVJ9 347 39722 8.28 0 NA NA PE5 9 +NX_A8MVM7 634 73452 9.81 0 NA NA PE5 4 +NX_A8MVS1 300 34857 9.31 0 Nucleus NA PE3 8 +NX_A8MVS5 230 24753 6.82 1 Cytosol;Cell membrane;Golgi apparatus;Membrane NA PE1 19 +NX_A8MVU1 366 41851 8.95 0 Cytoplasm NA PE5 7 +NX_A8MVW0 826 87435 8.14 1 Membrane NA PE1 17 +NX_A8MVW5 462 51407 6.09 1 Spindle;Centrosome;Midbody;Golgi apparatus membrane NA PE1 7 +NX_A8MVX0 844 94633 6.37 0 Cytoplasmic vesicle NA PE2 2 +NX_A8MVZ5 291 32612 8.7 1 Membrane NA PE5 1 +NX_A8MW92 1017 115010 6.39 0 Cell membrane;Nucleoplasm NA PE1 8 +NX_A8MW95 431 48153 4.78 0 Cytoplasm NA PE1 1 +NX_A8MW99 385 44024 5.82 0 Chromosome NA PE3 6 +NX_A8MWA4 302 34897 9.01 0 Nucleus NA PE3 11 +NX_A8MWA6 464 49874 9.86 0 NA NA PE5 8 +NX_A8MWD9 76 8544 8.93 0 Nucleus NA PE5 19 +NX_A8MWE9 144 16428 5.04 0 NA NA PE4 20 +NX_A8MWK0 482 56358 8.02 4 Endoplasmic reticulum membrane NA PE5 11 +NX_A8MWL6 223 24647 4.38 4 Membrane NA PE5 15 +NX_A8MWL7 114 12177 9.57 4 Membrane NA PE5 10 +NX_A8MWP4 228 24535 9.77 0 NA NA PE5 21 +NX_A8MWP6 167 18109 5.64 0 NA NA PE2 17 +NX_A8MWS1 328 36055 6.7 0 Secreted NA PE2 19 +NX_A8MWV9 139 15007 8.6 1 Membrane NA PE5 21 +NX_A8MWX3 477 51595 6.24 0 Early endosome membrane;Recycling endosome membrane NA PE5 16 +NX_A8MWY0 1029 113842 5.75 1 Endoplasmic reticulum;Membrane NA PE1 7 +NX_A8MX19 464 49786 9.98 0 NA NA PE5 8 +NX_A8MX34 341 35211 5.89 0 NA NA PE3 17 +NX_A8MX76 684 79568 8.86 0 NA NA PE2 2 +NX_A8MX80 341 37634 10.46 0 NA NA PE3 13 +NX_A8MXD5 290 32294 7.48 0 Stereocilium;Microvillus;Kinocilium Deafness, autosomal recessive, 25 PE1 4 +NX_A8MXE2 369 42761 7.08 1 Golgi apparatus membrane NA PE5 9 +NX_A8MXJ8 464 49840 9.86 0 NA NA PE5 8 +NX_A8MXK1 200 22377 8.15 1 Endoplasmic reticulum;Cell membrane;Dendrite;Axon NA PE3 11 +NX_A8MXK9 166 18008 6.09 0 NA NA PE2 17 +NX_A8MXQ7 604 68295 6.18 0 NA NA PE5 8 +NX_A8MXT2 336 37578 9.25 0 NA NA PE4 X +NX_A8MXU0 73 8390 8.9 0 Secreted NA PE5 8 +NX_A8MXV4 375 42233 7.28 0 Nucleus;Nucleolus;Cytosol;Peroxisome NA PE1 19 +NX_A8MXV6 281 30100 9.53 1 Membrane NA PE2 17 +NX_A8MXY4 864 100791 9.54 0 Nucleus NA PE2 19 +NX_A8MXZ1 464 49910 9.98 0 NA NA PE5 8 +NX_A8MXZ3 250 26333 8.05 0 NA NA PE3 17 +NX_A8MY62 500 54653 8.75 0 NA NA PE1 1 +NX_A8MYA2 514 54417 9.18 0 NA NA PE1 X +NX_A8MYB1 307 35763 4.98 1 Membrane NA PE3 15 +NX_A8MYJ7 566 60903 6.98 0 NA NA PE2 1 +NX_A8MYP8 253 27280 10.42 0 NA NA PE1 22 +NX_A8MYU2 1149 129543 8.08 7 Cell membrane NA PE1 8 +NX_A8MYV0 355 40425 9.46 0 NA NA PE1 2 +NX_A8MYX2 175 18345 6.23 0 NA NA PE2 10 +NX_A8MYZ0 360 41070 8.05 0 NA NA PE3 3 +NX_A8MYZ5 107 13059 11.71 0 NA NA PE1 3 +NX_A8MYZ6 492 50595 5.25 0 Nucleus;Cytoplasm NA PE1 1 +NX_A8MZ25 164 18125 11.55 0 NA NA PE5 17 +NX_A8MZ26 197 23937 8.95 0 NA NA PE1 5 +NX_A8MZ36 301 33953 5.8 0 Nucleoplasm;Nucleus NA PE2 17 +NX_A8MZ59 168 18626 5.68 0 Nucleus;Nucleus;Nucleolus NA PE2 19 +NX_A8MZ97 194 21915 6.01 1 Centrosome;Membrane NA PE1 2 +NX_A8MZA4 724 90952 5.06 0 NA NA PE3 15 +NX_A8MZF0 331 35187 8.54 0 NA NA PE1 11 +NX_A8MZG2 172 18426 9.05 0 NA NA PE2 16 +NX_A8MZH6 123 14433 8.23 0 Secreted NA PE5 11 +NX_A8TX70 2615 289926 6.5 0 Extracellular matrix NA PE1 3 +NX_A9QM74 516 56938 5.73 0 Nucleus NA PE1 7 +NX_A9UHW6 222 25423 5.23 0 Cytosol;Cytoplasm;Nucleus;Nucleolus NA PE1 17 +NX_A9YTQ3 701 76265 9.14 0 Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA PE1 5 +NX_A9Z1Z3 1794 200980 5.88 1 Membrane NA PE2 20 +NX_B0FP48 263 28385 8.4 1 Membrane NA PE1 7 +NX_B0I1T2 1018 116442 8.96 0 Phagocytic cup;Cell membrane NA PE1 7 +NX_B0YJ81 288 32388 9.1 6 Endoplasmic reticulum membrane Myopathy, congenital, with fiber-type disproportion PE1 10 +NX_B1AH88 102 10537 8.81 0 NA NA PE5 22 +NX_B1AJZ1 125 14253 7.82 0 NA NA PE5 1 +NX_B1AJZ9 1412 161904 6.52 0 Nucleus NA PE1 1 +NX_B1AK53 854 91733 6.47 0 Cytoskeleton;Stereocilium;Microvillus;Cytoplasmic vesicle Deafness, autosomal recessive, 36, with or without vestibular involvement PE1 1 +NX_B1AK76 121 14245 8.82 0 NA NA PE5 X +NX_B1AKI9 464 52107 5.22 0 Secreted NA PE1 20 +NX_B1AL46 878 93979 7.97 0 NA NA PE3 10 +NX_B1AL88 458 51493 6.2 2 Membrane;Nucleus;Cytoplasmic vesicle;Centrosome NA PE2 13 +NX_B1AMM8 73 8554 6.39 0 NA NA PE5 9 +NX_B1ANH7 110 12198 9.26 0 NA NA PE5 1 +NX_B1ANS9 1081 123631 8.47 0 NA NA PE1 1 +NX_B1ANY3 271 29405 8.89 0 NA NA PE5 9 +NX_B1APH4 448 51624 8.07 0 Cytosol;Nucleus;Nucleoplasm;Nucleus membrane NA PE5 10 +NX_B1ATL7 298 31890 7.26 0 NA NA PE4 X +NX_B2CW77 178 19958 11.27 0 Nucleus;Nucleus Cowden syndrome 4 PE1 10 +NX_B2RBV5 119 13369 8.49 0 NA NA PE1 4 +NX_B2RC85 870 100547 7.16 0 NA NA PE2 7 +NX_B2RD01 187 21052 6.54 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA PE2 16 +NX_B2RN74 326 36530 8.14 7 Cell membrane NA PE2 14 +NX_B2RNN3 333 34713 8.23 0 Secreted NA PE1 13 +NX_B2RPK0 211 24238 5.92 0 Nucleus;Chromosome NA PE5 20 +NX_B2RTY4 2548 292706 9.03 1 Membrane;Cell membrane NA PE1 15 +NX_B2RU33 542 61188 6.31 0 NA NA PE2 18 +NX_B2RUY7 222 24570 5.06 0 Secreted;Synapse NA PE1 2 +NX_B2RUZ4 78 8749 9.22 1 Cell membrane NA PE1 1 +NX_B2RV13 164 19546 10.07 0 NA NA PE1 17 +NX_B2RXF0 380 42370 9.95 6 Membrane;Cell membrane NA PE1 7 +NX_B2RXF5 422 46491 8.85 0 Nucleus;Cytoplasm;Nucleus;Nucleoplasm Lethal congenital contracture syndrome 6 PE1 14 +NX_B2RXH2 506 56804 7.95 0 Nucleus NA PE1 11 +NX_B2RXH4 712 77931 4.94 0 Nucleus NA PE2 11 +NX_B2RXH8 293 32072 5.29 0 Nucleus NA PE1 1 +NX_B3EWF7 344 35169 11.93 0 Nucleus NA PE1 6 +NX_B3EWG3 89 9320 5.78 0 NA NA PE1 10 +NX_B3EWG5 89 9320 5.78 0 NA NA PE1 10 +NX_B3EWG6 89 9320 5.78 0 NA NA PE1 10 +NX_B3GLJ2 98 11747 9.3 0 Secreted NA PE1 11 +NX_B3KS81 715 80355 12.05 0 NA NA PE1 19 +NX_B3KU38 563 62248 5.08 0 Cytoplasm;Axon NA PE1 3 +NX_B3SHH9 223 24166 5.9 4 Cell membrane NA PE2 16 +NX_B4DH59 902 103816 4.35 0 Cytoplasm NA PE5 1 +NX_B4DJY2 109 12074 4.93 2 Membrane NA PE1 12 +NX_B4DS77 424 46925 8.95 1 Endoplasmic reticulum;Dendritic spine membrane;Synapse NA PE1 16 +NX_B4DU55 563 64577 9.63 0 Nucleus;Nucleus NA PE1 5 +NX_B4DX44 427 49868 9.1 0 Nucleus NA PE1 7 +NX_B4DXR9 585 67839 9.19 0 Nucleus NA PE2 4 +NX_B4DYI2 1134 124429 9.42 1 Membrane NA PE1 9 +NX_B4DZS4 312 34563 4.6 0 NA NA PE2 X +NX_B4E2M5 251 27916 9.3 0 NA NA PE2 6 +NX_B5MCN3 397 45364 6.63 0 Nucleoplasm NA PE5 22 +NX_B5MCY1 1934 221722 6.67 0 NA NA PE2 2 +NX_B5MD39 225 24102 5.75 0 NA NA PE5 22 +NX_B5ME19 914 105473 5.45 0 Cytoplasm NA PE2 16 +NX_B6A8C7 271 29474 8.87 1 Cell membrane NA PE1 19 +NX_B6SEH8 477 52557 8.76 1 Membrane NA PE2 19 +NX_B6SEH9 535 59317 8.87 2 Membrane NA PE2 19 +NX_B7U540 433 48880 5.76 2 Cell membrane Thyrotoxic periodic paralysis 2 PE1 17 +NX_B7Z1M9 353 37583 11.24 0 NA NA PE1 1 +NX_B7Z368 130 13757 9.83 0 NA NA PE2 10 +NX_B7Z6K7 855 97337 9.14 0 NA NA PE1 19 +NX_B7Z8K6 153 17085 9.42 1 Membrane NA PE1 14 +NX_B7ZAP0 253 29038 5.28 0 NA NA PE1 1 +NX_B7ZAQ6 455 52917 9.34 9 Golgi apparatus membrane NA PE1 1 +NX_B7ZBB8 358 38019 4.88 0 NA NA PE1 6 +NX_B7ZC32 967 108254 8.68 0 Mitochondrion membrane NA PE3 1 +NX_B7ZW38 293 32029 5.48 0 Nucleus NA PE1 1 +NX_B8ZZ34 492 51412 10.83 1 Membrane NA PE5 22 +NX_B9A014 251 29214 8.7 0 NA NA PE2 21 +NX_B9A064 214 23063 9.08 0 Secreted NA PE1 22 +NX_B9A6J9 549 62187 9.2 0 Cell membrane NA PE2 17 +NX_B9EJG8 249 27887 6.08 6 Cell membrane;Lysosome membrane NA PE2 4 +NX_B9ZVM9 353 38357 7.18 0 NA NA PE3 6 +NX_C4AMC7 463 49995 5.36 0 Early endosome membrane;Recycling endosome membrane;Lamellipodium;Early endosome;Filopodium;Autophagosome;Centriole NA PE1 15 +NX_C9J069 976 106650 9.26 0 Cytosol;Focal adhesion NA PE1 9 +NX_C9J1S8 452 52496 8.74 0 NA NA PE1 11 +NX_C9J202 215 24154 5.47 0 NA NA PE3 3 +NX_C9J2P7 530 59676 8.22 0 Endoplasmic reticulum;Nucleus NA PE3 4 +NX_C9J302 202 23001 8.57 0 NA NA PE2 4 +NX_C9J3I9 102 11666 6.84 0 NA NA PE1 5 +NX_C9J3V5 150 16880 10.33 0 Cytoplasm;Acrosome NA PE2 14 +NX_C9J442 243 27532 8.94 0 Secreted;Nucleolus;Nucleus NA PE2 22 +NX_C9J6K1 198 22444 6.97 0 Cytoplasmic vesicle NA PE1 19 +NX_C9J798 803 90406 7.81 0 Cell membrane;Cytosol NA PE2 7 +NX_C9J7I0 102 11180 4.12 0 NA NA PE1 7 +NX_C9JBD0 128 14906 9.42 0 Nucleoplasm;Golgi apparatus NA PE2 3 +NX_C9JC47 383 42896 11.26 0 NA NA PE3 3 +NX_C9JCN9 74 8384 4.86 0 Nucleoplasm NA PE2 18 +NX_C9JDP6 229 25394 5.37 4 Cell membrane;Tight junction NA PE5 11 +NX_C9JDV5 145 16178 9.67 0 NA NA PE2 12 +NX_C9JE40 543 61464 5 0 Nucleus;Cytoplasm NA PE1 15 +NX_C9JFL3 82 7706 7.25 0 Cytoplasmic vesicle NA PE1 15 +NX_C9JG80 1138 126699 10.08 1 Membrane NA PE2 16 +NX_C9JH25 899 92712 6.27 5 Peroxisome;Cell membrane;Nucleoplasm;Membrane NA PE1 7 +NX_C9JI98 176 18040 11.54 2 Membrane NA PE1 19 +NX_C9JJ37 291 32365 6.21 0 Cytosol NA PE2 1 +NX_C9JJH3 530 59886 8.46 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_C9JL84 531 58297 9.11 0 Secreted NA PE2 8 +NX_C9JLJ4 530 59694 8.22 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_C9JLR9 678 73197 5.82 0 Cytoskeleton NA PE1 11 +NX_C9JLW8 97 10920 9.39 0 Nucleus;Cytoplasm;Cytosol NA PE1 17 +NX_C9JN71 531 61540 9.55 0 Nucleus;Nucleolus;Nucleus NA PE3 19 +NX_C9JPN9 530 59687 8.35 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_C9JQI7 657 76453 8.29 2 Membrane NA PE2 5 +NX_C9JQL5 133 14796 9.61 2 Membrane NA PE5 12 +NX_C9JR72 458 49485 5.47 0 Cytoplasm Nemaline myopathy 6 PE1 15 +NX_C9JRZ8 316 36537 6.23 0 Cytosol;Mitochondrion NA PE1 7 +NX_C9JSJ3 638 70198 9.1 0 Nucleus NA PE3 19 +NX_C9JTQ0 380 39620 11.04 0 NA NA PE1 15 +NX_C9JUS6 153 16532 9.48 0 Secreted NA PE2 19 +NX_C9JVI0 530 59630 8.22 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_C9JVW0 142 14668 10.69 1 Membrane NA PE1 19 +NX_C9JXX5 98 10902 9.97 0 Secreted NA PE2 11 +NX_D3DTV9 90 10428 12 0 Nucleus NA PE5 17 +NX_D3W0D1 207 24008 5.83 1 Cell membrane NA PE1 12 +NX_D6R901 530 59659 8.22 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_D6R9N7 530 59657 8.35 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_D6RA61 530 59671 8.35 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_D6RBM5 183 20302 7.13 0 Nucleus;Endoplasmic reticulum NA PE5 4 +NX_D6RBQ6 530 59627 8.22 0 Nucleus;Endoplasmic reticulum NA PE3 4 +NX_D6RCP7 530 59658 8.35 0 Endoplasmic reticulum;Nucleus NA PE3 4 +NX_D6REC4 459 52293 10.55 0 Flagellum NA PE1 4 +NX_D6RF30 607 68878 8.64 0 NA NA PE3 15 +NX_D6RGH6 385 41720 5.62 0 Nucleus;Nucleus NA PE1 5 +NX_D6RJB6 530 59626 8.22 0 Endoplasmic reticulum;Nucleus NA PE3 4 +NX_E0CX11 47 5265 9.1 1 Mitochondrion;Mitochondrion membrane NA PE1 7 +NX_E2RYF6 1773 173478 3.9 1 Membrane NA PE1 6 +NX_E2RYF7 251 26282 4.36 0 Secreted NA PE2 6 +NX_E5RG02 174 19341 9.32 0 NA NA PE5 3 +NX_E5RHQ5 1161 129208 10.06 1 Membrane NA PE2 16 +NX_E5RIL1 263 28385 8.4 1 Membrane NA PE1 7 +NX_E5RJ46 101 11413 11.36 0 NA NA PE4 8 +NX_E5RJM6 399 41497 6.09 0 Nucleoplasm NA PE1 1 +NX_E5RQL4 147 16268 9.21 0 Cytoplasmic vesicle NA PE2 2 +NX_E7EML9 344 36995 8.46 0 Secreted NA PE3 3 +NX_E7ERA6 249 26629 9.43 1 Membrane NA PE1 1 +NX_E7ETH6 402 45541 8.73 0 Nucleus NA PE1 19 +NX_E7EU14 171 19623 9.4 0 Cytosol NA PE2 19 +NX_E7EW31 1015 106917 9.68 0 Nucleoplasm NA PE1 5 +NX_E9PAV3 2078 205422 9.6 0 Cytoplasm;Nucleus NA PE1 12 +NX_E9PB15 166 19074 4.81 0 NA NA PE5 17 +NX_E9PGG2 379 41695 5.25 0 Nucleus NA PE1 12 +NX_E9PI22 279 31050 6.08 0 NA NA PE2 8 +NX_E9PIF3 369 42223 9.62 0 NA NA PE3 16 +NX_E9PJ23 425 49162 10.38 0 NA NA PE2 16 +NX_E9PJI5 369 42230 9.22 0 NA NA PE1 16 +NX_E9PKD4 350 40105 9.48 0 NA NA PE2 16 +NX_E9PQ53 114 13408 8.47 1 Mitochondrion inner membrane NA PE1 11 +NX_E9PQR5 432 49617 10.15 0 NA NA PE2 16 +NX_E9PQX1 116 13758 6.11 3 Membrane NA PE2 11 +NX_E9PRG8 122 13798 11.69 0 NA NA PE1 11 +NX_F2Z333 226 24218 9.11 1 Membrane NA PE1 1 +NX_F2Z398 122 13273 5 0 NA NA PE2 13 +NX_F2Z3F1 127 14123 9.23 0 NA NA PE2 5 +NX_F2Z3M2 114 12668 5.7 0 NA NA PE4 17 +NX_F5GYI3 381 40592 5.37 0 Nucleus NA PE2 15 +NX_F5H284 164 18167 9.43 0 Cytoplasm NA PE3 1 +NX_F5H4A9 247 25682 5.51 1 Membrane NA PE1 3 +NX_F5H4B4 570 66188 9.39 0 Nucleoplasm NA PE1 22 +NX_F7VJQ1 73 8691 9.24 1 Mitochondrion outer membrane NA PE1 20 +NX_F8VTS6 287 32249 7.47 0 NA NA PE2 19 +NX_F8W1W9 429 49181 10.44 0 NA NA PE2 16 +NX_F8WBI6 632 71524 5.93 0 NA NA PE2 15 +NX_F8WCM5 200 21537 5.93 0 NA NA PE1 11 +NX_F8WFD2 350 40061 9.48 0 NA NA PE3 16 +NX_G3V0H7 640 71247 8.8 11 Cell membrane NA PE5 12 +NX_G3V211 115 13510 9.43 0 NA NA PE4 12 +NX_H0UI37 97 11268 5.43 0 NA NA PE3 6 +NX_H0Y354 149 16730 6.27 0 NA NA PE3 1 +NX_H0Y7S4 382 44302 8.65 0 NA NA PE5 1 +NX_H0YKK7 550 64493 4.78 0 NA NA PE5 15 +NX_H0YL09 131 14853 5.27 0 NA NA PE5 15 +NX_H0YL14 139 16083 10.48 2 Cytoplasm;Nucleoplasm;Membrane;Nucleus NA PE1 9 +NX_H0YM25 854 107774 5.05 0 NA NA PE3 15 +NX_H3BMG3 65 7091 10.3 0 Nucleolus NA PE2 7 +NX_H3BN30 126 14216 9.41 0 NA NA PE2 16 +NX_H3BNL1 204 23376 9.32 0 NA NA PE1 3 +NX_H3BNL8 230 26547 9.09 0 NA NA PE1 6 +NX_H3BPM6 223 25451 5.83 0 Golgi apparatus NA PE2 3 +NX_H3BQB6 276 30984 8.61 0 Cytoskeleton NA PE1 6 +NX_H3BQJ8 138 15317 9.07 0 Cell membrane NA PE3 8 +NX_H3BQW9 127 12972 7.75 0 NA NA PE2 1 +NX_H3BR10 107 12312 10.43 2 Membrane NA PE1 6 +NX_H3BRN8 121 13763 8.49 0 Nucleus;Cytosol NA PE1 15 +NX_H3BS89 294 33409 9.45 3 Nucleolus;Membrane;Cytoplasmic vesicle NA PE1 7 +NX_H3BSY2 632 71498 6.65 0 NA NA PE2 15 +NX_H3BTG2 121 14053 9.86 0 NA NA PE1 1 +NX_H3BU77 68 8104 9.78 0 NA NA PE2 11 +NX_H3BUK9 544 61708 5.75 0 NA NA PE3 15 +NX_H3BV60 316 32819 11.72 1 Cytoplasmic vesicle;Membrane NA PE1 19 +NX_H7BZ55 1655 185872 5.42 0 NA NA PE5 2 +NX_H7C241 214 24226 8.21 4 Tight junction;Cell membrane NA PE3 X +NX_H7C350 402 43548 8.61 1 Nucleoplasm;Membrane;Nucleus NA PE1 22 +NX_I0J062 215 22842 12.21 0 Nucleolus NA PE2 11 +NX_I1YAP6 450 52450 8.59 0 NA NA PE2 11 +NX_I3L0S3 204 21949 11.32 0 NA NA PE5 16 +NX_I3L1E1 186 19614 6.96 0 NA NA PE1 19 +NX_I3L1I5 382 41200 6.18 1 Membrane NA PE5 19 +NX_I3L273 518 56104 5.64 1 Golgi apparatus membrane NA PE3 19 +NX_I3L3R5 266 30352 5.22 0 Secreted NA PE1 19 +NX_I6L899 631 71490 5.98 0 NA NA PE1 15 +NX_J3KSC0 135 14903 7.65 0 NA NA PE5 18 +NX_K7EIQ3 104 11601 8.99 0 NA NA PE4 19 +NX_K7EJ46 135 14570 6.06 1 Membrane;Cytosol;Nucleoplasm NA PE1 16 +NX_K9M1U5 179 19675 11.29 0 Cytoplasm;Secreted NA PE1 19 +NX_L0R6Q1 103 11133 7.81 1 Membrane NA PE1 5 +NX_L0R819 96 11250 8.83 0 Cytoplasm NA PE1 2 +NX_L0R8F8 70 8445 10.59 0 NA NA PE1 22 +NX_M0QZC1 329 34789 9.43 1 Membrane NA PE3 19 +NX_M5A8F1 160 18128 9.24 0 Secreted NA PE1 21 +NX_O00110 214 23826 10.2 0 Nucleus NA PE3 19 +NX_O00115 360 39581 8.3 0 Lysosome NA PE1 19 +NX_O00116 658 72912 6.99 0 Peroxisome;Peroxisome membrane Rhizomelic chondrodysplasia punctata 3 PE1 2 +NX_O00124 270 30541 7.63 2 Nucleolus;Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 8 +NX_O00139 706 79955 6.28 0 Nucleus;Centrosome;Nucleolus;Cytoplasm;Centrosome;Spindle pole;Spindle Cortical dysplasia, complex, with other brain malformations 3 PE1 5 +NX_O00141 431 48942 8.7 0 Nucleus;Endoplasmic reticulum membrane;Cell membrane;Mitochondrion;Cytoplasm;Cytosol;Nucleus speckle NA PE1 6 +NX_O00142 265 31005 8.71 0 Mitochondrion Mitochondrial DNA depletion syndrome 2;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 PE1 16 +NX_O00144 591 64466 8.63 7 Cell membrane NA PE1 7 +NX_O00148 427 49130 5.46 0 Nucleus;Cytoplasm NA PE1 19 +NX_O00151 329 36072 6.56 0 Cell junction;Cytoplasm;Cytoskeleton;Cytoskeleton;Cell membrane;Z line NA PE1 10 +NX_O00154 380 41796 8.85 0 Mitochondrion;Cytoplasm;Cytoplasm;Nucleoplasm;Cytosol;Mitochondrion NA PE1 1 +NX_O00155 361 38779 9.56 7 Cell membrane NA PE1 1 +NX_O00159 1063 121682 9.46 0 Cytoplasm;Cytoplasmic vesicle;Nuclear pore complex;Nucleolus;Nucleoplasm;Ruffle;Stereocilium membrane;Cell membrane;Nucleus;Nucleus;Cell membrane NA PE1 17 +NX_O00160 1098 124844 9.21 0 NA NA PE1 19 +NX_O00161 211 23354 4.89 0 Cell membrane;Cell membrane;Cell membrane;Synaptosome NA PE1 15 +NX_O00165 279 31621 4.76 0 Cytoplasmic vesicle;Cytoplasm;Mitochondrion;Endoplasmic reticulum;Nucleus;Mitochondrion;Cell cortex;Cell membrane;Sarcoplasmic reticulum;P-body;Nucleus membrane Neutropenia, severe congenital 3, autosomal recessive PE1 1 +NX_O00167 538 59232 6.02 0 Cytoplasm;Nucleus;Cytosol NA PE1 20 +NX_O00168 92 10441 9.35 1 Nucleus;Cytosol;Nucleolus;Sarcolemma;Apical cell membrane;Caveola NA PE1 19 +NX_O00170 330 37636 5.88 0 Cytoplasm;Cytosol;Cytoplasm Pituitary adenoma, growth hormone-secreting, 1;Prolactin-secreting pituitary adenoma;ACTH-secreting pituitary adenoma PE1 11 +NX_O00175 119 13134 10 0 Secreted NA PE1 7 +NX_O00178 669 72454 8.6 0 Nucleus;Cytoplasm;Cytosol;Golgi apparatus NA PE1 22 +NX_O00180 336 38143 5.94 4 Synapse;Cytoplasmic vesicle;Perikaryon;Cell membrane;Recycling endosome;Cytoplasmic vesicle;Dendrite;Cell projection;Apical cell membrane NA PE1 1 +NX_O00182 355 39518 9.34 0 Cytoplasm;Nucleus;Secreted NA PE1 17 +NX_O00186 592 67764 7.98 0 Nucleoplasm;Cytosol;Cytosol;Cell membrane NA PE1 1 +NX_O00187 686 75702 5.39 0 Golgi apparatus;Secreted MASP2 deficiency PE1 1 +NX_O00189 453 49977 6.71 0 trans-Golgi network membrane;Early endosome Spastic paraplegia 50, autosomal recessive PE1 7 +NX_O00192 962 104642 6.38 0 Nucleus speckle;Cell membrane;Cell junction NA PE1 22 +NX_O00193 183 20333 4.57 0 Nucleoplasm;Endoplasmic reticulum NA PE1 11 +NX_O00194 218 24608 5.35 0 Cytosol;Membrane;Golgi apparatus;Cell membrane NA PE1 18 +NX_O00198 91 9884 11.75 1 Mitochondrion;Membrane NA PE1 12 +NX_O00203 1094 121320 5.75 0 Golgi apparatus;Clathrin-coated vesicle membrane;Nucleoplasm;Golgi apparatus Hermansky-Pudlak syndrome 2 PE1 5 +NX_O00204 365 41308 5.24 0 Cytosol;Nucleus;Cytosol;Cytoplasmic vesicle;Cytoplasm;Microsome Ichthyosis, congenital, autosomal recessive 14 PE1 19 +NX_O00206 839 95680 5.88 1 Cell membrane;Golgi apparatus;Cytosol NA PE1 9 +NX_O00212 210 23413 8.15 0 Cell membrane;Early endosome NA PE1 11 +NX_O00213 710 77244 4.98 0 Nucleus;Growth cone;Nucleus speckle;Cell membrane;Cytoplasm;Cell membrane NA PE1 11 +NX_O00214 317 35808 8.33 0 Cytoplasmic vesicle;Cytosol NA PE1 1 +NX_O00217 210 23705 6 0 Mitochondrion;Mitochondrion Leigh syndrome PE1 11 +NX_O00219 553 62998 8.77 7 Cytoskeleton;Membrane NA PE1 16 +NX_O00220 468 50089 6.64 1 Nucleoplasm;Membrane NA PE1 8 +NX_O00221 500 52864 6.22 0 Cytoplasm;Nucleus;Cytosol;Nucleolus NA PE1 6 +NX_O00222 908 101741 8.49 7 Cell membrane NA PE2 7 +NX_O00230 105 11532 8.84 0 Secreted NA PE2 1 +NX_O00231 422 47464 6.08 0 Golgi apparatus;Nucleus;Nucleus;Cytosol NA PE1 17 +NX_O00232 456 52904 7.53 0 Nucleus;Cytoplasm;Nucleus;Cytosol;Cytoskeleton Stankiewicz-Isidor syndrome PE1 17 +NX_O00233 223 24682 6.46 0 Cell membrane;Cytosol NA PE1 12 +NX_O00237 685 79405 5.45 4 Endoplasmic reticulum membrane NA PE1 2 +NX_O00238 502 56930 7.78 1 Cell membrane;Membrane Brachydactyly A1, D;Brachydactyly A2;Acromesomelic dysplasia, Demirhan type PE1 4 +NX_O00241 398 43211 6.06 1 Membrane;Cytoplasmic vesicle NA PE1 20 +NX_O00244 68 7402 6.71 0 Cytoplasm;Cell membrane;Nucleoplasm;Nucleus NA PE1 5 +NX_O00253 132 14440 7.44 0 Secreted;Golgi apparatus lumen Obesity PE1 16 +NX_O00254 374 42508 8.56 7 Endoplasmic reticulum;Cell membrane NA PE1 5 +NX_O00255 615 68023 6.14 0 Nucleus;Nucleoplasm;Cytosol Familial multiple endocrine neoplasia type I PE1 11 +NX_O00257 560 61368 9.41 0 Nucleoplasm;Nucleus;Nucleus;Nucleus speckle NA PE1 17 +NX_O00258 174 19780 9.71 3 Endoplasmic reticulum membrane NA PE1 21 +NX_O00264 195 21671 4.56 1 Endoplasmic reticulum;Microsome membrane;Smooth endoplasmic reticulum membrane;Nucleolus;Endoplasmic reticulum NA PE1 X +NX_O00267 1087 121000 4.95 0 Nucleoplasm;Nucleus NA PE1 19 +NX_O00268 1085 110114 9.95 0 Nucleus;Cytosol;Nucleoplasm NA PE1 20 +NX_O00270 319 35075 9.37 7 Cell membrane NA PE2 6 +NX_O00273 331 36522 4.68 0 Cytoplasm;Cell membrane;Cytosol NA PE1 1 +NX_O00287 272 28232 5.41 0 Nucleus speckle;Nucleus Bare lymphocyte syndrome 2 PE1 13 +NX_O00291 1037 116221 5.2 0 Cytoplasm;Cytoplasmic vesicle;Clathrin-coated vesicle membrane;Endomembrane system;Nucleus NA PE1 7 +NX_O00292 366 40920 8.91 0 Secreted Left-right axis malformations PE1 1 +NX_O00294 542 60609 9.49 0 Cytoplasm;Cell membrane;Secreted;Synapse Retinitis pigmentosa 14;Leber congenital amaurosis 15 PE1 6 +NX_O00295 520 58664 8.31 0 Secreted;Cytoplasm NA PE2 19 +NX_O00299 241 26923 5.09 1 Cytoplasm;Nucleus;Cytoplasm;Cytosol;Nucleus;Nucleus membrane;Cell membrane NA PE1 6 +NX_O00300 401 46026 8.66 0 Secreted Paget disease of bone 5, juvenile-onset PE1 8 +NX_O00303 357 37564 5.24 0 Cytoplasm;Cytosol;Nucleolus NA PE1 11 +NX_O00305 520 58169 9.37 0 NA Epilepsy, idiopathic generalized 9;Juvenile myoclonic epilepsy 6;Episodic ataxia 5 PE1 2 +NX_O00308 870 98912 6.67 0 Nucleus NA PE1 16 +NX_O00311 574 63888 8.96 0 Spindle;Cytoskeleton;Nucleoplasm;Nucleus NA PE1 1 +NX_O00321 342 36633 5.88 0 Nucleus NA PE2 19 +NX_O00322 258 28879 5.16 4 Membrane NA PE1 19 +NX_O00327 626 68762 6.4 0 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;PML body;Nucleus NA PE1 11 +NX_O00329 1044 119479 6.79 0 Cytoplasmic vesicle;Cytoskeleton;Cytoplasm Activated PI3K-delta syndrome PE1 1 +NX_O00330 501 54122 8.8 0 Nucleus;Mitochondrion matrix;Cell membrane;Mitochondrion Pyruvate dehydrogenase E3-binding protein deficiency PE1 11 +NX_O00337 649 71584 7.77 13 Cell membrane NA PE1 15 +NX_O00338 296 34880 7.12 0 Cytoplasm NA PE1 2 +NX_O00339 956 106837 5.86 0 Secreted NA PE1 8 +NX_O00341 560 60658 6.33 10 Membrane NA PE2 1 +NX_O00358 373 38076 9.62 0 Nucleus Bamforth-Lazarus syndrome;Thyroid cancer, non-medullary, 4 PE1 9 +NX_O00370 1275 149012 9.68 0 NA NA PE1 unknown +NX_O00391 747 82578 9.13 1 Cytoplasmic vesicle;Extracellular space;Golgi apparatus membrane;Golgi apparatus NA PE1 1 +NX_O00398 339 38774 9.26 7 Cell membrane NA PE1 X +NX_O00399 190 20747 5.94 0 Cytosol;Cell membrane;Nucleolus;Cytoskeleton;Kinetochore NA PE1 8 +NX_O00400 549 60909 6.98 11 Endoplasmic reticulum membrane Congenital cataracts, hearing loss, and neurodegeneration;Spastic paraplegia 42, autosomal dominant PE1 3 +NX_O00401 505 54827 8.05 0 Nucleus;Nucleolus;Cytosol;Cytoplasm;Cytoskeleton NA PE1 7 +NX_O00408 941 105717 5.22 0 Mitochondrion matrix;Cytoplasm;Mitochondrion inner membrane;Mitochondrion outer membrane;Mitochondrion;Cell membrane;Cytosol NA PE1 11 +NX_O00409 490 53835 6.19 0 Cytoskeleton;Nucleus;Nucleus;Cell membrane NA PE1 14 +NX_O00410 1097 123630 4.83 0 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Nucleolus NA PE1 13 +NX_O00411 1230 138620 9.19 0 Mitochondrion;Mitochondrion NA PE1 19 +NX_O00418 725 82144 5.16 0 Nucleoplasm NA PE1 16 +NX_O00421 344 39513 7.92 7 Cell membrane NA PE1 3 +NX_O00422 153 17561 9.38 0 Nucleus;Cytosol;Nucleus speckle;Nucleoplasm;Nucleus;Cytoplasm NA PE1 13 +NX_O00423 815 89861 6.61 0 Cytoskeleton;Perinuclear region;Cytoplasm Band heterotopia PE1 14 +NX_O00425 579 63705 8.99 0 Nucleus;Cytosol;Cytoplasm NA PE1 7 +NX_O00429 736 81877 6.37 0 Synaptic vesicle membrane;Cytoplasmic vesicle;Cytosol;Peroxisome;Clathrin-coated pit;Endomembrane system;Mitochondrion outer membrane;Cytosol;Golgi apparatus Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PE1 12 +NX_O00442 366 39337 8.01 0 Nucleoplasm;Nucleus NA PE1 1 +NX_O00443 1686 190680 8.25 0 Cell membrane;Golgi apparatus;Clathrin-coated vesicle;Cytoplasm;Nucleus;Nucleus NA PE1 11 +NX_O00444 970 108972 8.79 0 Centrosome;Centriole;Nucleolus;Cleavage furrow;Cytosol Microcephaly and chorioretinopathy, autosomal recessive, 2 PE1 4 +NX_O00445 386 42900 9.27 1 Synaptic vesicle membrane;Recycling endosome membrane NA PE1 19 +NX_O00451 464 51544 8 0 Cytoplasmic vesicle;Cell membrane NA PE1 8 +NX_O00453 97 10792 8.43 1 Membrane;Golgi apparatus membrane;Endomembrane system NA PE1 6 +NX_O00458 451 50269 6.8 0 Cytosol;Cell membrane NA PE1 7 +NX_O00459 728 81545 6.03 0 Golgi apparatus Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PE1 19 +NX_O00461 696 81880 4.73 1 Golgi apparatus;Golgi stack membrane;Endosome membrane;Membrane NA PE1 3 +NX_O00462 879 100895 5.33 0 Cytoplasmic vesicle;Lysosome Mannosidosis, beta A, lysosomal PE1 4 +NX_O00463 557 64406 7.26 0 Cytosol;Cytoplasm;Cytosol NA PE1 1 +NX_O00468 2067 217232 6.01 0 Cytosol;Extracellular matrix;Cell membrane;Synapse;Cell membrane Myasthenic syndrome, congenital, 8 PE1 1 +NX_O00469 737 84686 6.24 0 Rough endoplasmic reticulum membrane;Nucleolus;Cytosol Bruck syndrome 2 PE1 3 +NX_O00470 390 43016 5.86 0 Nucleoplasm;Nucleus Restless legs syndrome 7 PE1 2 +NX_O00471 708 81853 6.27 0 Midbody;Cytoplasm NA PE1 14 +NX_O00472 640 72324 9.09 0 Nucleoplasm;Nucleus NA PE1 5 +NX_O00476 420 46106 8.69 8 Endoplasmic reticulum membrane;Cell membrane NA PE1 6 +NX_O00478 584 65002 5.37 1 Cell membrane NA PE1 6 +NX_O00479 90 9539 10.48 0 Nucleus NA PE1 6 +NX_O00481 513 57677 8.23 1 Cell membrane;Cytoplasmic vesicle NA PE1 6 +NX_O00482 541 61331 8.08 0 Nucleus speckle;Nucleus NA PE1 1 +NX_O00483 81 9370 9.42 0 Mitochondrion inner membrane Leigh syndrome PE1 7 +NX_O00487 310 34577 6.06 0 Nucleoplasm NA PE1 2 +NX_O00488 134 15199 9.85 0 Nucleus;Nucleolus;Nucleolus NA PE1 1 +NX_O00499 593 64699 4.97 0 Nucleus;Cytoplasm;Nucleus;Cytoplasm;Cytosol Myopathy, centronuclear, 2 PE1 2 +NX_O00501 218 23147 8.25 4 Cell membrane;Tight junction NA PE1 22 +NX_O00505 521 57811 4.8 0 Nucleoplasm;Nucleus;Cytoplasm;Cytosol NA PE1 13 +NX_O00506 426 48112 6.27 0 Cytoplasm;Golgi apparatus NA PE1 2 +NX_O00507 2555 291077 5.56 0 Cytoplasmic vesicle;Cytoplasm Spermatogenic failure Y-linked 2 PE1 Y +NX_O00512 1426 149290 8.99 0 Nucleoplasm;Nucleus;Nucleus NA PE1 1 +NX_O00515 517 57131 9.67 0 Cytoskeleton;Basement membrane NA PE1 1 +NX_O00519 579 63066 7.82 1 Cytosol;Endomembrane system;Cytoskeleton NA PE1 1 +NX_O00522 736 84348 8.63 0 Cytoskeleton;Cell junction;Cytoplasmic vesicle;Cell membrane Cerebral cavernous malformations 1 PE1 7 +NX_O00526 184 19438 10.41 1 Endoplasmic reticulum;Cell membrane NA PE1 11 +NX_O00533 1208 135071 5.51 1 Extracellular matrix;Cell membrane NA PE1 3 +NX_O00534 786 86489 6.13 0 Nucleus NA PE1 11 +NX_O00541 588 68003 6.93 0 Nucleus;Chromosome;Nucleoplasm;Nucleolus;Nucleolus NA PE1 22 +NX_O00548 723 78056 5.85 1 Apical cell membrane;Adherens junction;Membrane raft NA PE1 6 +NX_O00555 2505 282365 9 24 Cytoplasmic vesicle;Golgi apparatus;Nucleoplasm;Cell membrane Epileptic encephalopathy, early infantile, 42;Episodic ataxia 2;Spinocerebellar ataxia 6;Migraine, familial hemiplegic, 1 PE1 19 +NX_O00559 213 24377 6.04 1 Golgi apparatus membrane;Golgi apparatus NA PE1 8 +NX_O00560 298 32444 7.06 0 Cytosol;Cytosol;Focal adhesion;Melanosome;Membrane raft;Exosome;Cytoskeleton;Nucleus membrane;Adherens junction;Cell membrane;Endoplasmic reticulum membrane;Nucleus;Nucleoplasm NA PE1 8 +NX_O00562 1244 134848 5.64 0 Cytosol;Cytosol;Midbody;Cytoplasm;Golgi stack membrane;Endoplasmic reticulum membrane;Lipid droplet;Cleavage furrow NA PE1 11 +NX_O00566 681 78864 4.77 0 Nucleolus;Nucleolus;Chromosome NA PE1 2 +NX_O00567 594 66050 9.24 0 Cytoplasm;Nucleoplasm;Nucleolus;Nucleolus Spinocerebellar ataxia 36 PE1 20 +NX_O00570 391 39023 9.7 0 Nucleus NA PE1 13 +NX_O00571 662 73243 6.73 0 Mitochondrion outer membrane;Nucleus speckle;Cytoplasm Mental retardation, X-linked 102 PE1 X +NX_O00574 342 39280 8.28 7 Cell membrane NA PE2 3 +NX_O00584 256 29481 6.66 0 Secreted;Lysosome lumen;Endoplasmic reticulum lumen Leukoencephalopathy, cystic, without megalencephaly PE1 6 +NX_O00585 134 14646 10.13 0 Secreted NA PE1 9 +NX_O00587 321 36202 9.01 1 Golgi apparatus membrane;Cytoskeleton NA PE1 22 +NX_O00590 384 43443 7.61 7 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Cell membrane;Early endosome;Recycling endosome NA PE1 3 +NX_O00591 440 50640 6.55 4 Postsynaptic cell membrane;Cell membrane NA PE2 5 +NX_O00592 558 58635 5.28 1 Cell membrane;Membrane raft;Microtubule organizing center;Cytoplasmic vesicle;Filopodium;Ruffle;Microvillus;Apical cell membrane;Membrane;Lamellipodium NA PE1 7 +NX_O00602 326 35078 6.39 0 Secreted;Cell membrane NA PE1 9 +NX_O00622 381 42027 8.64 0 Secreted NA PE1 1 +NX_O00623 359 40797 9.21 2 Peroxisome membrane Peroxisome biogenesis disorder 3A;Peroxisome biogenesis disorder complementation group 3;Peroxisome biogenesis disorder 3B PE1 17 +NX_O00624 439 47277 8.85 9 Membrane NA PE2 6 +NX_O00625 290 32113 6.42 0 Cytoplasm;Cytosol;Nucleus NA PE1 X +NX_O00626 93 10625 8.8 0 Secreted NA PE1 16 +NX_O00628 323 35892 5.41 0 Peroxisome;Cytoplasm Rhizomelic chondrodysplasia punctata 1;Peroxisome biogenesis disorder 9B;Peroxisome biogenesis disorder complementation group 11 PE1 6 +NX_O00629 521 57887 4.8 0 Nucleus;Nucleus;Cytoplasm NA PE1 3 +NX_O00631 31 3762 8.34 1 Cytoskeleton;Sarcoplasmic reticulum membrane;Endoplasmic reticulum membrane NA PE1 11 +NX_O00634 580 61466 9.2 0 Extracellular matrix NA PE1 16 +NX_O00635 465 53416 6.61 0 Cell membrane;Cell junction;Centrosome NA PE1 6 +NX_O00712 420 47442 9.01 0 Nucleus;Nucleolus;Nucleus NA PE1 9 +NX_O00716 465 49162 5.29 0 Cytosol;Nucleus;Nucleoplasm NA PE1 6 +NX_O00743 305 35144 5.43 0 Cytoplasm NA PE1 9 +NX_O00744 389 43000 9.37 0 Golgi apparatus;Extracellular matrix Tooth agenesis, selective, 8;Split-hand/foot malformation 6 PE1 12 +NX_O00746 187 20659 10.3 0 Mitochondrion intermembrane space;Mitochondrion matrix;Mitochondrion NA PE1 16 +NX_O00748 559 61807 5.71 0 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum lumen;Golgi apparatus NA PE1 16 +NX_O00750 1634 184768 6.95 0 Nucleoplasm;Cytosol;Cytosol;Nucleus;Endoplasmic reticulum;Microsome;Cell membrane NA PE1 1 +NX_O00754 1011 113744 6.84 0 Cytoplasmic vesicle;Nucleoplasm;Lysosome Mannosidosis, alpha B, lysosomal PE1 19 +NX_O00755 349 39005 9.05 0 Extracellular matrix Fuhrmann syndrome;Limb pelvis hypoplasia aplasia syndrome PE1 3 +NX_O00757 339 36743 6.84 0 Nucleoplasm;Cell junction;Z line;Cytoplasm;Nucleus;Cell membrane NA PE1 9 +NX_O00762 179 19652 6.83 0 Cell membrane;Cytosol NA PE1 20 +NX_O00763 2458 276541 6.05 0 Endomembrane system;Mitochondrion;Nucleus NA PE1 12 +NX_O00764 312 35102 5.75 0 Nucleus;Cytoplasm NA PE1 21 +NX_O00767 359 41523 9.07 4 Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 10 +NX_O14490 977 108873 6.66 0 Postsynaptic density;Cell membrane;Synapse NA PE1 18 +NX_O14492 632 67738 5.85 0 Cytosol;Cytoplasm;Cell membrane NA PE1 7 +NX_O14493 209 22077 8.38 4 Tight junction;Cell membrane;Cell membrane NA PE1 7 +NX_O14494 284 32156 8.1 6 Cell membrane;Cell membrane;Cell membrane NA PE1 5 +NX_O14495 311 35116 9.31 6 Golgi apparatus;trans-Golgi network membrane;Cell membrane NA PE1 1 +NX_O14497 2285 242045 6.24 0 Nucleoplasm;Nucleus Coffin-Siris syndrome 2 PE1 1 +NX_O14498 428 45997 5 0 Secreted;Cell membrane;Golgi apparatus NA PE1 15 +NX_O14503 412 45510 8.3 0 Nucleus;Cytoplasm;Nucleus NA PE1 3 +NX_O14508 198 22172 8.9 0 Endoplasmic reticulum NA PE1 12 +NX_O14511 850 91679 9.51 1 Cell membrane;Nucleolus;Secreted;Nucleus NA PE1 5 +NX_O14512 581 62969 8.35 0 Cytoplasm;Cytosol;Cell membrane;Nucleus NA PE1 17 +NX_O14513 1909 208537 8.34 0 Cytosol;Nucleolus;Golgi apparatus;Cell membrane NA PE1 2 +NX_O14514 1584 173501 8.27 7 Cell membrane;Phagocytic cup;Focal adhesion;Dendritic spine;Postsynaptic density;Secreted;Secreted NA PE1 8 +NX_O14519 115 12365 9.41 0 Nucleoplasm NA PE1 12 +NX_O14520 342 37232 9.04 6 Membrane NA PE1 9 +NX_O14521 159 17043 8.92 3 Mitochondrion inner membrane Intestinal carcinoid tumor;Pheochromocytoma;Cowden syndrome 3;Paraganglioma and gastric stromal sarcoma;Paragangliomas 1;Mitochondrial complex II deficiency PE1 11 +NX_O14522 1441 162134 6.44 1 Membrane NA PE1 20 +NX_O14523 706 76181 7.61 1 Endoplasmic reticulum membrane;Cell membrane;Nucleus membrane;Nucleolus;Nucleus;Cytosol NA PE1 11 +NX_O14524 444 50640 6.56 5 Nucleus inner membrane;Nucleus envelope;Nucleoplasm NA PE1 12 +NX_O14525 1302 144913 5.09 2 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Perikaryon;Endosome;Clathrin-coated vesicle NA PE1 1 +NX_O14526 889 96861 6.51 0 Cytosol;Nucleoplasm;Clathrin-coated pit NA PE1 19 +NX_O14529 1486 161677 5.38 0 Nucleus NA PE1 12 +NX_O14530 226 26534 5.61 0 Nucleus;Cytosol;Midbody;Cytoplasm;Centrosome NA PE1 2 +NX_O14531 572 61878 6.64 0 Mitochondrion;Cytoplasmic vesicle;Cytoplasm NA PE1 10 +NX_O14543 225 24770 8.97 0 Cytosol NA PE1 17 +NX_O14544 535 59528 6.79 0 Cytosol;Nucleus speckle NA PE1 18 +NX_O14545 582 64841 5.19 0 Cytosol;Nucleoplasm NA PE1 12 +NX_O14548 114 12615 9.43 0 Nucleolus;Mitochondrion inner membrane;Mitochondrion NA PE1 2 +NX_O14556 408 44501 8.39 0 Nucleoplasm;Cytoplasm;Centrosome NA PE1 19 +NX_O14558 160 17136 5.95 0 Nucleus;Secreted;Cytoplasm NA PE1 19 +NX_O14559 1287 137213 9.05 0 Cell membrane;Cytoskeleton;Cytosol NA PE1 19 +NX_O14561 156 17417 4.82 0 Nucleoplasm;Mitochondrion;Mitochondrion NA PE1 16 +NX_O14562 309 33382 5.55 0 Nucleolus;Nucleus NA PE1 16 +NX_O14569 222 23974 9.93 6 Membrane NA PE1 3 +NX_O14576 645 72955 5 0 Cytoplasm;Spindle pole;Kinetochore NA PE1 7 +NX_O14578 2027 231431 6.16 0 Cytosol;Cytoplasm Microcephaly 17, primary, autosomal recessive PE1 12 +NX_O14579 308 34482 4.98 0 Golgi apparatus;Cytoplasm;Golgi apparatus;Golgi apparatus membrane;COPI-coated vesicle membrane NA PE1 19 +NX_O14581 309 34013 6.48 7 Cell membrane NA PE2 19 +NX_O14593 260 28102 4.45 0 Nucleoplasm;Cytoplasm;Nucleus Bare lymphocyte syndrome 2 PE1 19 +NX_O14594 1321 143093 5.22 0 Cytoplasmic vesicle;Centrosome;Secreted NA PE1 19 +NX_O14595 271 30664 5.34 0 Nucleoplasm;Nucleus NA PE1 12 +NX_O14598 125 12917 9.43 0 NA NA PE1 Y +NX_O14599 106 12063 10.19 0 NA NA PE1 Y +NX_O14602 144 16442 5.07 0 NA NA PE1 Y +NX_O14603 147 16512 8.27 0 NA NA PE1 Y +NX_O14604 44 5013 5.34 0 Cytoskeleton NA PE1 Y +NX_O14607 1347 149548 7.91 0 Nucleus NA PE1 Y +NX_O14609 159 18083 6.56 3 Membrane NA PE2 Y +NX_O14610 69 7747 6.27 0 Cell membrane NA PE1 17 +NX_O14613 210 22484 4.94 0 Cytosol;Cytoskeleton;Cytoskeleton;Endomembrane system NA PE1 11 +NX_O14617 1153 130158 8.69 0 Cytoplasm;Cytosol;Golgi apparatus membrane Hermansky-Pudlak syndrome 10 PE1 19 +NX_O14618 274 29041 5.32 0 Cytoplasm NA PE1 11 +NX_O14625 94 10365 9.94 0 Secreted NA PE1 4 +NX_O14626 319 36754 9.1 7 Cell membrane NA PE1 3 +NX_O14627 284 30480 9.03 0 Nucleus NA PE1 X +NX_O14628 629 72332 8.45 0 Cytosol;Nucleus;Nucleus NA PE1 11 +NX_O14633 110 11219 8.54 0 NA NA PE1 1 +NX_O14638 875 100124 6.12 1 Secreted;Membrane NA PE1 6 +NX_O14639 778 87688 8.91 0 Cytoplasm;Cytoskeleton;Cytosol NA PE1 10 +NX_O14640 695 75187 7.69 0 Cytoplasmic vesicle;Cell membrane;Cytosol Robinow syndrome, autosomal dominant 2 PE1 1 +NX_O14641 736 78948 5.67 0 Nucleoplasm;Cell membrane;Cytosol;Nucleus;Cytoplasmic vesicle;Nucleus NA PE1 17 +NX_O14645 258 29662 8.73 0 NA NA PE1 1 +NX_O14646 1710 196688 6.68 0 Nucleus;Nucleolus;Nucleus;Cytoplasm NA PE1 5 +NX_O14647 1828 211344 8.22 0 Nucleus;Nucleus Epileptic encephalopathy, childhood-onset PE1 15 +NX_O14649 394 43518 9.26 4 Cell membrane Pulmonary hypertension, primary, 4 PE1 2 +NX_O14653 212 24775 7.86 1 Nucleoplasm;Golgi apparatus;Endoplasmic reticulum membrane;cis-Golgi network membrane;Golgi apparatus membrane Epilepsy, progressive myoclonic 6 PE1 17 +NX_O14654 1257 133768 8.72 0 Cell membrane NA PE1 X +NX_O14656 332 37809 6.51 0 Nucleus membrane;Growth cone;Cytoplasmic vesicle membrane;Secretory vesicle;Synaptic vesicle;Nucleus membrane;Cytoskeleton;Cytoplasmic vesicle;Endoplasmic reticulum lumen Dystonia 1, torsion, autosomal dominant PE1 9 +NX_O14657 336 37979 8.76 0 Nucleus membrane;Endoplasmic reticulum lumen;Nucleus speckle;Cytosol NA PE1 9 +NX_O14662 325 37031 5.75 1 Cytoplasmic vesicle;Golgi apparatus membrane;Cytoplasm Pseudohypoparathyroidism 1B PE1 20 +NX_O14668 218 24947 5.13 1 Cell membrane;Membrane;Cytoplasmic vesicle NA PE1 X +NX_O14669 202 22393 5.22 1 Nucleus;Nucleolus;Cytosol;Membrane NA PE1 19 +NX_O14672 748 84142 8.04 1 Cell membrane;Golgi apparatus membrane;Cell membrane;Cytoplasmic vesicle Reticulate acropigmentation of Kitamura;Alzheimer disease 18 PE1 15 +NX_O14678 606 68597 6.12 5 Peroxisome membrane Methylmalonic aciduria and homocystinuria type cblJ PE1 14 +NX_O14681 340 38965 9.75 5 Golgi apparatus;Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus membrane;Cytoplasm NA PE1 11 +NX_O14682 589 66130 6.4 0 Cell membrane;Nucleus matrix;Cytoplasm;Cytoskeleton;Cytosol NA PE1 5 +NX_O14683 189 21054 9.57 4 Golgi apparatus;Endoplasmic reticulum;Membrane NA PE1 11 +NX_O14684 152 17102 9.59 4 Endoplasmic reticulum;Membrane NA PE1 9 +NX_O14686 5537 593389 5.4 0 Nucleus;Cytosol;Nucleus;Cell membrane Kabuki syndrome 1 PE1 12 +NX_O14709 1029 118847 8.91 0 Nucleoplasm;Nucleus NA PE1 3 +NX_O14713 200 21782 5.95 0 Ruffle;Nucleus;Cytosol;Nucleoplasm;Cytoplasm;Cytoskeleton;Cell membrane;Lamellipodium NA PE1 2 +NX_O14715 1765 198993 6.09 0 NA NA PE1 2 +NX_O14717 391 44597 5.78 0 Nucleus;Nucleolus;Centrosome;Nucleus NA PE1 10 +NX_O14718 337 37423 8.78 7 Membrane NA PE1 4 +NX_O14727 1248 141840 5.96 0 Cytosol;Cytoplasm;Nucleoplasm;Golgi apparatus NA PE1 12 +NX_O14730 519 59093 5.52 0 Golgi apparatus;Cytoplasm;Cell membrane;Microtubule organizing center;Cytosol NA PE1 18 +NX_O14732 288 31321 6.15 0 Mitochondrion;Nucleoplasm NA PE1 18 +NX_O14733 419 47485 9.26 0 Cytoplasm;Cytosol;Nucleus;Golgi apparatus;Cell membrane NA PE1 19 +NX_O14734 319 35914 7.22 0 Peroxisome matrix;Cytoplasm;Mitochondrion;Cytoplasmic vesicle NA PE1 20 +NX_O14735 213 23539 8.23 5 Nucleus membrane;Cell membrane;Golgi apparatus membrane;Cell membrane;Endoplasmic reticulum membrane;Membrane;Nucleoplasm NA PE1 16 +NX_O14737 125 14285 5.77 0 Cytosol;Nucleus NA PE1 19 +NX_O14744 637 72684 5.88 0 Cytosol;Cytoplasm;Nucleus;Nucleus;Golgi apparatus NA PE1 14 +NX_O14745 358 38868 5.55 0 Cell membrane;Cytoplasm;Cytoplasm;Apical cell membrane;Microtubule organizing center;Cytoplasmic vesicle;Microvillus;Cell membrane;Endomembrane system;Filopodium;Ruffle Nephrolithiasis/osteoporosis, hypophosphatemic, 2 PE1 17 +NX_O14746 1132 126997 10.54 0 Telomere;PML body;Nucleoplasm;Nucleus;Nucleolus;Nucleoplasm;Cytoplasm Aplastic anemia;Dyskeratosis congenita, autosomal recessive, 4;Melanoma, cutaneous malignant 9;Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1;Dyskeratosis congenita, autosomal dominant, 2;Pulmonary fibrosis, idiopathic PE1 5 +NX_O14753 267 30259 9.02 0 Nucleus;Nucleus NA PE1 11 +NX_O14756 317 35966 8.94 0 Microsome membrane;Early endosome membrane;Nucleus;Cytoplasmic vesicle NA PE1 12 +NX_O14757 476 54434 8.5 0 Nucleus;Cytoplasmic vesicle;Cytoplasm;Centrosome;Nucleoplasm NA PE1 11 +NX_O14763 440 47878 5.39 1 Membrane Squamous cell carcinoma of the head and neck PE1 8 +NX_O14764 452 50708 8.7 4 Golgi apparatus;Cytoplasmic vesicle;Postsynaptic cell membrane;Cell membrane Epilepsy, idiopathic generalized 10;Juvenile myoclonic epilepsy 7;Generalized epilepsy with febrile seizures plus 5 PE1 1 +NX_O14770 477 51790 5.92 0 Nucleus;Cytosol;Nucleoplasm;Perinuclear region Cleft palate, cardiac defects, and mental retardation PE1 15 +NX_O14771 459 51263 6.48 0 Nucleus;Nucleus;Cytoplasmic vesicle;Nucleus membrane;Cytosol NA PE1 16 +NX_O14772 594 66599 6.06 0 Cytoplasm NA PE1 1 +NX_O14773 563 61248 6.01 0 Cytoplasm;Lysosome;Melanosome Ceroid lipofuscinosis, neuronal, 2;Spinocerebellar ataxia, autosomal recessive, 7 PE1 11 +NX_O14775 395 43566 6.02 0 Nucleus;Cytoplasm;Membrane;Nucleus speckle;Centrosome;Cytoplasm Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia;Intellectual developmental disorder with cardiac arrhythmia PE1 15 +NX_O14776 1098 123901 8.71 0 Nucleoplasm;Nucleus NA PE1 5 +NX_O14777 642 73913 5.48 0 Nucleus;Centrosome;Nucleoplasm;Kinetochore NA PE1 18 +NX_O14782 793 89426 8.28 0 Nucleus;Nucleus membrane;Cytoskeleton;Cytoskeleton NA PE1 2 +NX_O14786 923 103134 5.58 1 Endoplasmic reticulum;Mitochondrion;Secreted;Cell membrane NA PE1 10 +NX_O14787 897 101388 4.87 0 Cytoplasm;Nucleus;Nucleus;Nucleolus NA PE1 19 +NX_O14788 317 35478 7.25 1 Cell membrane;Secreted;Cytoplasm Osteopetrosis, autosomal recessive 2 PE1 13 +NX_O14791 398 43974 5.6 0 Secreted Focal segmental glomerulosclerosis 4 PE1 22 +NX_O14792 307 35773 8.91 0 Cytoplasmic vesicle;Golgi apparatus lumen NA PE1 4 +NX_O14793 375 42750 6.35 0 Secreted Muscle hypertrophy PE1 2 +NX_O14795 1591 180679 5.67 0 Cytoskeleton;Nucleoplasm;Cytoplasm;Cytosol;Membrane;Cell membrane;Synapse NA PE1 9 +NX_O14796 132 15297 8.97 0 NA NA PE1 1 +NX_O14798 259 27407 4.79 0 Cell membrane NA PE1 8 +NX_O14802 1390 155641 8.76 0 Nucleus;Nucleoplasm Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism PE1 10 +NX_O14804 337 38242 8.49 7 Cell membrane NA PE2 6 +NX_O14807 208 23846 8.82 0 Cell membrane;Cytoplasmic vesicle NA PE1 3 +NX_O14810 134 15030 4.93 0 Cytosol NA PE1 4 +NX_O14813 284 29653 8.98 0 Nucleus;Nucleus membrane;Cytoplasmic vesicle;Nucleus Fibrosis of extraocular muscles, congenital, 2 PE1 11 +NX_O14815 690 79097 5.37 0 NA NA PE1 1 +NX_O14817 238 26118 6.07 4 Membrane NA PE1 11 +NX_O14818 248 27887 8.6 0 Cytoplasm;Nucleus NA PE1 20 +NX_O14827 1237 140764 7.37 0 Endoplasmic reticulum;Cell membrane;Endoplasmic reticulum membrane;Cytoplasm NA PE1 5 +NX_O14828 347 38287 7.55 4 Membrane;Cytoplasmic vesicle NA PE1 1 +NX_O14829 653 75792 6.37 0 Cytoskeleton;Cell membrane NA PE1 X +NX_O14830 753 86518 6.7 0 Photoreceptor outer segment;Photoreceptor inner segment;Cytoplasm NA PE1 4 +NX_O14832 338 38538 8.71 0 Peroxisome Refsum disease PE1 10 +NX_O14836 293 31816 8.35 1 Membrane Immunodeficiency, common variable, 2;Immunoglobulin A deficiency 2 PE1 17 +NX_O14841 1288 137457 6.12 0 Nucleolus 5-oxoprolinase deficiency PE1 8 +NX_O14842 300 31457 9.63 7 Cell membrane NA PE1 19 +NX_O14843 346 38649 8 7 Cell membrane NA PE1 19 +NX_O14862 343 38954 9.79 0 Nucleoplasm;Cytosol;Mitochondrion;Nucleus;Cytoplasm NA PE1 1 +NX_O14863 429 47483 6.11 6 Lysosome membrane;Endosome membrane;Late endosome membrane NA PE1 15 +NX_O14867 736 81958 4.95 0 Cytosol;Nucleus;Nucleus NA PE1 21 +NX_O14874 412 46360 8.97 0 Mitochondrion;Mitochondrion matrix;Mitochondrion Branched-chain ketoacid dehydrogenase kinase deficiency PE1 16 +NX_O14879 490 55985 5.12 0 Cytoplasm;Cytosol;Mitochondrion;Mitochondrion NA PE1 10 +NX_O14880 152 16516 9.46 3 Microsome membrane;Microsome membrane;Endoplasmic reticulum membrane NA PE1 1 +NX_O14893 280 31585 5.43 0 Gem;Nucleus;Nucleus;Cytoplasm;Nucleolus NA PE1 14 +NX_O14894 197 20823 8.56 4 Nucleoplasm;Cell junction;Membrane;Cell membrane NA PE1 17 +NX_O14896 467 53130 5.18 0 Cytosol;Nucleus;Nucleus;Cytoplasm Van der Woude syndrome 1;Popliteal pterygium syndrome;Non-syndromic orofacial cleft 6 PE1 1 +NX_O14901 512 55139 8.45 0 Cytosol;Nucleoplasm;Nucleus;Focal adhesion Maturity-onset diabetes of the young 7 PE1 2 +NX_O14904 365 40320 9.08 0 Extracellular matrix NA PE1 1 +NX_O14905 357 39001 9.2 0 Extracellular matrix NA PE1 17 +NX_O14907 124 13735 8.05 0 Cytoplasm;Cytoskeleton;Cytoplasmic vesicle;Nucleolus;Nucleus;Cell membrane NA PE1 17 +NX_O14908 333 36049 5.9 0 Cytoplasm;Cell junction;Membrane;Cell membrane;Nucleus NA PE1 19 +NX_O14910 233 25997 8.83 0 Cell membrane;Basolateral cell membrane;Cell junction;Postsynaptic density;Tight junction;Synaptosome NA PE1 12 +NX_O14917 1159 126229 5.03 1 Cell membrane;Cell membrane;Cytoplasmic vesicle;Cytosol NA PE1 13 +NX_O14920 756 86564 5.58 0 Cytoplasm;Cytosol;Nucleus;Membrane raft Immunodeficiency 15 PE1 8 +NX_O14921 159 19135 9.07 0 NA NA PE2 1 +NX_O14924 1447 156357 7.2 0 Nucleolus;Dendrite;Nucleus;Synapse;Nucleus matrix;Nucleus;Cytoplasm NA PE1 4 +NX_O14925 209 21943 8.81 3 Mitochondrion;Mitochondrion;Mitochondrion inner membrane NA PE1 10 +NX_O14926 492 55057 7.95 0 Cytoskeleton;Stereocilium Retinitis pigmentosa 30 PE1 17 +NX_O14929 419 49513 5.52 0 Nucleus;Cytoplasm;Nucleus matrix;Nucleus;Nucleoplasm;Nucleoplasm NA PE1 2 +NX_O14931 201 21593 9.17 1 Cell membrane NA PE1 6 +NX_O14933 153 17769 7.72 0 Cytosol NA PE1 11 +NX_O14936 926 105123 5.99 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm;Cell membrane Mental retardation and microcephaly with pontine and cerebellar hypoplasia;FG syndrome 4 PE1 X +NX_O14939 933 105987 7.41 0 Membrane NA PE1 17 +NX_O14944 169 19044 7.49 1 Cytoplasmic vesicle;Extracellular space;Cell membrane NA PE1 4 +NX_O14948 347 38788 5.3 0 Nucleus;Nucleoplasm NA PE1 7 +NX_O14949 82 9906 10.07 0 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex III deficiency, nuclear 4 PE1 5 +NX_O14950 172 19779 4.71 0 Cytoplasm NA PE1 18 +NX_O14957 56 6570 9.87 1 Mitochondrion inner membrane NA PE1 19 +NX_O14958 399 46436 4.22 0 Sarcoplasmic reticulum lumen Ventricular tachycardia, catecholaminergic polymorphic, 2 PE1 1 +NX_O14960 151 16390 9.49 0 Secreted;Cytoplasm NA PE1 5 +NX_O14964 777 86192 5.84 0 Cytosol;Multivesicular body membrane;Endosome;Cytoplasm;Early endosome membrane;Lysosome NA PE1 17 +NX_O14965 403 45809 9.45 0 Cytosol;Centriole;Cilium basal body;Spindle pole;Centrosome;Nucleus;Centrosome NA PE1 20 +NX_O14966 203 23155 6.73 0 Cell membrane;Nucleus membrane;Cytoplasm;Perinuclear region;Golgi apparatus;trans-Golgi network;Vacuole;Cytoskeleton;Nucleolus NA PE1 1 +NX_O14967 610 70039 4.58 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 4 +NX_O14972 297 33010 7.6 0 Mitochondrion NA PE1 21 +NX_O14974 1030 115281 5.31 0 Cytoskeleton;Cytosol;Cytoplasm NA PE1 12 +NX_O14975 620 70312 8.75 3 Peroxisome membrane;Endoplasmic reticulum membrane NA PE1 15 +NX_O14976 1311 143191 5.49 0 Perinuclear region;Golgi apparatus;Cytoplasmic vesicle;trans-Golgi network;Focal adhesion NA PE1 4 +NX_O14977 448 49535 4.66 0 Cytoplasmic vesicle;Nucleus NA PE1 8 +NX_O14978 683 77299 6.54 0 Nucleoplasm;Nucleus;Cytosol;Spindle NA PE1 16 +NX_O14979 420 46438 9.59 0 Nucleoplasm;Cytoplasm;Nucleus Limb-girdle muscular dystrophy 1G PE1 4 +NX_O14980 1071 123386 5.71 0 Nucleolus;Cytosol;Cytoplasm;Nucleoplasm;Nucleoplasm;Cytoplasmic vesicle;Nucleus membrane;Cajal body NA PE1 2 +NX_O14981 1849 206887 6.08 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 10 +NX_O14983 1001 110252 5.07 10 Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane;Endoplasmic reticulum Brody myopathy PE1 16 +NX_O14986 540 61036 6.39 0 Nucleus;Cytoplasmic vesicle;Endomembrane system NA PE1 9 +NX_O14990 202 22660 5.04 0 NA NA PE1 X +NX_O14994 580 63303 9.42 0 Synaptic vesicle membrane NA PE1 22 +NX_O15013 1369 151612 5.46 0 Nucleoplasm Slowed nerve conduction velocity PE1 8 +NX_O15014 1411 151191 8.24 0 Cytosol;Nucleus;Nucleoplasm NA PE1 15 +NX_O15015 1829 200762 6.97 0 Nucleus;Cytosol;Cell membrane;Nucleoplasm;Nucleus NA PE1 16 +NX_O15016 1216 134663 6.53 0 Nucleoplasm;Nucleus NA PE2 11 +NX_O15018 2839 301641 7.14 0 Secreted;Endoplasmic reticulum;Cell membrane;Cytosol;Cytoplasm;Nucleus NA PE1 5 +NX_O15020 2390 271325 5.79 0 Cell junction;Cytosol;Cell cortex;Cytoskeleton Spinocerebellar ataxia, autosomal recessive, 14;Spinocerebellar ataxia 5 PE1 11 +NX_O15021 2626 284378 8.85 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 5 +NX_O15027 2179 233517 5.4 0 Endoplasmic reticulum;Golgi apparatus membrane;Endoplasmic reticulum membrane;Golgi apparatus NA PE1 9 +NX_O15031 1838 205127 5.85 1 Cell membrane NA PE1 22 +NX_O15033 823 94223 6.85 0 Cytosol NA PE1 14 +NX_O15034 1052 116026 5.16 0 Cell membrane;Synapse;Nucleus;Golgi apparatus NA PE1 12 +NX_O15037 678 74534 6.57 0 Nucleoplasm;Cytosol NA PE1 14 +NX_O15040 1411 153848 5.34 0 Nucleus Spastic paraplegia 49, autosomal recessive PE1 14 +NX_O15041 775 89228 7.2 0 Nucleoplasm;Cytoplasmic vesicle;Secreted NA PE1 7 +NX_O15042 1029 118292 8.59 0 Nucleus;Nucleoplasm;Nucleus NA PE1 3 +NX_O15047 1707 186034 5.07 0 Nucleus speckle;Chromosome;Nucleus speckle NA PE1 16 +NX_O15049 544 60470 8.33 0 Nucleoplasm;Cytoplasmic vesicle;Axon;Dendrite;Centrosome NA PE1 5 +NX_O15050 2925 336221 6.34 0 Nucleoplasm NA PE1 3 +NX_O15054 1643 176632 8.83 0 Nucleus;Nucleus speckle NA PE1 17 +NX_O15055 1255 136579 6.04 0 Cytoplasm;Perinuclear region;Nucleolus;Nucleus Advanced sleep phase syndrome, familial, 1 PE1 2 +NX_O15056 1496 165538 6.96 0 Cytosol;Cytoskeleton;Cytoskeleton;Cytoplasm;Cell membrane;Membrane raft;Axon NA PE1 6 +NX_O15060 712 79001 6.06 0 Cytoplasmic vesicle;Nucleus NA PE1 12 +NX_O15061 1565 172768 5.09 0 Cytoskeleton;Cytoskeleton;Adherens junction NA PE1 15 +NX_O15062 677 74278 5.79 0 Nucleoplasm;Golgi apparatus;Nucleus;Nucleus NA PE1 9 +NX_O15063 1070 116020 6.72 0 Cytoplasm;Nucleoplasm NA PE1 19 +NX_O15066 747 85125 7.3 0 Nucleolus;Golgi apparatus;Nucleoplasm;Cytoskeleton;Cilium NA PE1 20 +NX_O15067 1338 144734 5.5 0 Cytoplasm;Cell membrane;Nucleoplasm NA PE1 17 +NX_O15068 1137 128109 6.02 0 Cytoplasm;Cell membrane;Endomembrane system NA PE1 13 +NX_O15069 1562 161101 4.12 0 Cytosol;Cytoplasm;Nucleus;Nucleus NA PE1 7 +NX_O15072 1205 135603 6.76 0 Cytoskeleton;Extracellular matrix NA PE1 4 +NX_O15075 740 82224 8.84 0 Nucleus;Cytosol NA PE1 13 +NX_O15078 2479 290386 5.75 0 Cytoplasmic vesicle;Centriole;Cilium;Nucleus;Centrosome;Centriolar satellite;Centrosome;Cilium basal body Joubert syndrome 5;Leber congenital amaurosis 10;Meckel syndrome 4;Senior-Loken syndrome 6;Bardet-Biedl syndrome 14 PE1 12 +NX_O15079 494 53537 5.41 1 Cytoskeleton;Mitochondrion;Membrane;Synaptosome NA PE1 20 +NX_O15083 957 110558 6.51 0 Cytoskeleton;Cytoplasm;Synapse;Synaptosome NA PE1 3 +NX_O15084 1053 112966 5.8 0 Nucleoplasm NA PE1 3 +NX_O15085 1522 167704 5.33 0 Golgi apparatus;Cytoplasm;Membrane;Cell membrane NA PE1 1 +NX_O15090 1300 141417 6.86 0 Nucleus NA PE1 19 +NX_O15091 583 67315 8.97 0 Mitochondrion;Nucleus;Mitochondrion NA PE1 14 +NX_O15105 426 46426 8.63 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Colorectal cancer 3 PE1 18 +NX_O15111 745 84640 6.27 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm;Cytoplasmic vesicle Cocoon syndrome PE1 10 +NX_O15116 133 15179 5.11 0 Cytosol;Cytoplasmic vesicle;Cytoplasm;P-body NA PE1 8 +NX_O15117 783 85387 6.11 0 Cytoplasm;Nucleus;Cell junction;Cell membrane Thrombocytopenia 3 PE1 5 +NX_O15118 1278 142167 5.17 13 Late endosome membrane;Lysosome membrane Niemann-Pick disease C1 PE1 18 +NX_O15119 743 79389 8.3 0 Cytosol;Nucleoplasm;Nucleus Ulnar-mammary syndrome PE1 12 +NX_O15120 278 30914 9.21 3 Endoplasmic reticulum membrane;Centrosome Congenital generalized lipodystrophy 1 PE1 9 +NX_O15121 323 37866 6.97 6 Mitochondrion;Mitochondrion;Endoplasmic reticulum membrane;Membrane NA PE1 1 +NX_O15123 496 56919 5.41 0 Secreted NA PE1 8 +NX_O15126 338 37920 7.03 4 Nucleoplasm;Cell junction;Cytoplasmic vesicle;Recycling endosome membrane;trans-Golgi network membrane NA PE1 5 +NX_O15127 329 36649 5.72 4 Cell membrane;Golgi apparatus;Recycling endosome membrane;trans-Golgi network membrane;Cytoplasmic vesicle NA PE1 15 +NX_O15130 113 12440 5.04 0 Secreted NA PE2 12 +NX_O15131 536 60349 5.07 0 Cytoplasm;Cytosol NA PE1 6 +NX_O15143 372 40950 8.68 0 Cytoplasmic vesicle;Cytoskeleton;Cytosol NA PE1 7 +NX_O15144 300 34333 6.84 0 Cytoplasm;Cell projection;Cytoskeleton;Synaptosome;Golgi apparatus;Cytosol NA PE1 2 +NX_O15145 178 20547 8.78 0 Cytoplasm;Nucleoplasm;Cytoskeleton;Cell projection NA PE1 12 +NX_O15146 869 97056 6.96 1 Postsynaptic cell membrane Fetal akinesia deformation sequence;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency PE1 9 +NX_O15151 490 54864 4.85 0 Nucleus;Nucleus NA PE1 1 +NX_O15155 118 13289 9.14 1 Endoplasmic reticulum membrane;cis-Golgi network membrane;Golgi apparatus membrane NA PE1 7 +NX_O15156 539 58027 5.53 0 Nucleoplasm;Nucleus NA PE1 1 +NX_O15160 346 39250 5.31 0 Nucleus;Nucleus Treacher Collins syndrome 3;Leukodystrophy, hypomyelinating, 11 PE1 6 +NX_O15162 318 35049 4.83 1 Nucleus;Golgi apparatus;Nucleus;Membrane;Cell membrane;Cell membrane NA PE1 3 +NX_O15164 1050 116831 6.73 0 Nucleus;Nucleoplasm;Cytoplasm NA PE1 7 +NX_O15165 306 33900 5.86 1 Cytoplasmic vesicle;Nucleoplasm;Early endosome membrane NA PE1 18 +NX_O15169 862 95635 6.5 0 Nucleolus;Cytoplasmic vesicle;Cell membrane;Membrane;Nucleus;Cytoplasm Caudal duplication anomaly;Hepatocellular carcinoma PE1 16 +NX_O15172 72 7804 6.02 0 NA NA PE5 7 +NX_O15173 223 23818 4.76 1 Nucleus;Membrane;Cell membrane;Cytosol NA PE1 4 +NX_O15178 435 47443 6.62 0 Nucleus;Nucleus Neural tube defects;Sacral agenesis with vertebral anomalies;Chordoma PE1 6 +NX_O15182 167 19550 4.62 0 Centriole;Nucleolus;Centrosome;Centrosome NA PE1 5 +NX_O15194 276 31129 5.32 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA PE1 3 +NX_O15195 856 95907 6.55 0 NA NA PE1 3 +NX_O15197 1021 110700 6.19 1 Nucleus speckle;Membrane;Secreted NA PE1 7 +NX_O15198 467 52493 7.87 0 Cytoplasm;Cytosol;Nucleoplasm;Nucleus Pulmonary hypertension, primary, 2 PE1 13 +NX_O15204 470 52775 7.01 0 Secreted NA PE1 8 +NX_O15205 165 18473 9.08 0 Nucleolus;Nucleus;Nucleus;Cytoplasm NA PE1 6 +NX_O15209 634 65602 5.93 0 Nucleus;Nucleoplasm NA PE1 6 +NX_O15211 777 83549 5.82 0 NA NA PE1 6 +NX_O15212 129 14583 8.83 0 Golgi apparatus;Nucleus NA PE1 6 +NX_O15213 610 68071 9.69 0 Nucleolus NA PE1 6 +NX_O15217 222 25704 7.89 0 Cytoplasm NA PE1 6 +NX_O15218 404 45323 7.28 7 Cell membrane NA PE2 12 +NX_O15225 51 5365 7 0 NA NA PE5 X +NX_O15226 690 77673 8.94 0 Nucleus;Nucleolus;Nucleolus NA PE1 X +NX_O15228 680 77188 6.16 0 Peroxisome membrane Rhizomelic chondrodysplasia punctata 2 PE1 1 +NX_O15229 486 55810 9.18 2 Mitochondrion outer membrane NA PE1 1 +NX_O15230 3695 399737 6.66 0 Cytoplasmic vesicle;Basement membrane;Nucleoplasm NA PE1 20 +NX_O15231 689 73525 6.68 0 Cytoskeleton;Focal adhesion NA PE1 X +NX_O15232 486 52817 6.25 0 Golgi apparatus;Endoplasmic reticulum;Secreted Multiple epiphyseal dysplasia 5;Spondyloepimetaphyseal dysplasia MATN3-related;Osteoarthritis 2 PE1 2 +NX_O15234 703 76278 6.05 0 Nucleus membrane;Perinuclear region;Nucleus;Nucleus speckle NA PE1 17 +NX_O15235 138 15173 10.31 0 Mitochondrion NA PE1 19 +NX_O15239 70 8072 8.93 1 Cytosol;Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency PE1 X +NX_O15240 615 67258 4.76 0 Secreted;Cytoplasmic vesicle;Secretory vesicle NA PE1 7 +NX_O15243 131 14254 6.01 4 Golgi apparatus membrane;Endosome membrane;Centrosome NA PE1 1 +NX_O15244 555 62581 8.68 12 Membrane NA PE1 6 +NX_O15245 554 61154 6.4 12 Basolateral cell membrane NA PE1 6 +NX_O15247 247 28356 5.44 1 Cytoplasm;Nucleus;Cell membrane;Cytoplasm;Membrane Mental retardation, X-linked, syndromic, 32 PE1 X +NX_O15254 700 77629 6.84 0 Peroxisome;Peroxisome NA PE1 4 +NX_O15255 209 22278 8.56 0 Cell membrane NA PE2 X +NX_O15258 196 22958 9.56 3 Golgi apparatus membrane;Golgi apparatus NA PE1 1 +NX_O15259 732 83299 5.11 0 Cytoplasmic vesicle;Adherens junction;Cilium;Cilium axoneme;Tight junction Senior-Loken syndrome 1;Joubert syndrome 4;Nephronophthisis 1 PE1 2 +NX_O15260 269 30394 7.64 5 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus membrane NA PE1 9 +NX_O15263 64 7038 9.46 0 Secreted NA PE1 8 +NX_O15264 365 42090 8.48 0 Cytosol;Nucleus;Nucleolus NA PE1 6 +NX_O15265 892 95451 9.89 0 Cytosol;Cytoplasm;Nucleus;Nucleolus;Nucleus matrix;Cytoskeleton;Nucleoplasm Spinocerebellar ataxia 7 PE1 3 +NX_O15266 292 32236 7.23 0 Cytoplasmic vesicle;Nucleus;Nucleoplasm Short stature, idiopathic, X-linked;Langer mesomelic dysplasia;Leri-Weill dyschondrosteosis PE1 X +NX_O15269 473 52744 5.72 1 Endoplasmic reticulum;Endoplasmic reticulum membrane Neuropathy, hereditary sensory and autonomic, 1A PE1 9 +NX_O15270 562 62924 7.89 1 Endoplasmic reticulum membrane;Mitochondrion Neuropathy, hereditary sensory and autonomic, 1C PE1 14 +NX_O15273 167 19052 5.2 0 Sarcomere Cardiomyopathy, familial hypertrophic 25;Limb-girdle muscular dystrophy 2G PE1 17 +NX_O15287 622 68554 5.32 0 Cell membrane;Cytosol;Nucleus;Cytoplasm;Nucleolus Fanconi anemia complementation group G PE1 9 +NX_O15294 1046 116925 6.22 0 Membrane;Cell membrane;Cytoplasm;Nucleus;Cell membrane;Mitochondrion;Cytosol;Nucleoplasm Mental retardation, X-linked 106 PE1 X +NX_O15296 676 75857 5.73 0 Cell membrane;Cytosol;Nucleus;Membrane;Cytoskeleton;Cytosol NA PE1 17 +NX_O15297 605 66675 9.14 0 Endoplasmic reticulum NA PE1 17 +NX_O15303 877 95468 8.34 7 Cell membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane;Dendrite Night blindness, congenital stationary, 1B PE1 5 +NX_O15304 175 18695 7.86 0 Cytoplasm;Nucleoplasm;Cytoplasm;Nucleus NA PE1 14 +NX_O15305 246 28082 6.35 0 Nucleus;Cytosol;Cytoplasm Congenital disorder of glycosylation 1A PE1 16 +NX_O15315 384 42196 5.49 0 Nucleus;Nucleoplasm;Nucleus NA PE1 14 +NX_O15318 223 25914 4.53 0 Cytoplasm;Nucleus;Nucleoplasm NA PE1 5 +NX_O15320 804 90996 5.15 1 Endoplasmic reticulum membrane NA PE1 14 +NX_O15321 606 68861 6.7 9 Golgi apparatus;Lysosome membrane;Autophagosome membrane NA PE1 14 +NX_O15327 924 104738 5.87 0 Cytoplasm;Centrosome NA PE1 4 +NX_O15335 359 40476 9.49 0 Extracellular matrix NA PE1 17 +NX_O15342 81 9374 8.96 2 Membrane NA PE2 5 +NX_O15344 667 75251 6.35 0 Spindle;Cytoplasm;Cytoskeleton Opitz GBBB syndrome 1 PE1 X +NX_O15347 200 22980 8.48 0 Cytoplasm;Nucleus;Nucleolus;Nucleus;Chromosome Microphthalmia, syndromic, 13 PE1 X +NX_O15350 636 69623 6.47 0 Nucleus;Golgi apparatus;Cytoplasm;Nucleoplasm NA PE1 1 +NX_O15353 648 68925 5.93 0 Nucleus T-cell immunodeficiency, congenital alopecia, and nail dystrophy PE1 17 +NX_O15354 613 67114 8.68 7 Endoplasmic reticulum membrane;Cell membrane;Nucleus membrane;Cytosol NA PE1 7 +NX_O15355 546 59272 4.28 0 Cytoplasm;Membrane;Nucleoplasm NA PE1 2 +NX_O15357 1258 138599 6.1 0 Cytosol;Cytosol;Lamellipodium;Filopodium;Membrane;Cytoskeleton;Golgi apparatus Opsismodysplasia;Diabetes mellitus, non-insulin-dependent PE1 11 +NX_O15360 1455 162775 6.13 0 Nucleus;Nucleus;Cytoplasm Fanconi anemia, complementation group A PE1 16 +NX_O15370 315 34122 5.08 0 Nucleus;Nucleoplasm NA PE1 20 +NX_O15371 548 63973 5.79 0 Cytosol;Cytoplasm NA PE1 22 +NX_O15372 352 39930 6.09 0 Cytosol;Cytoplasm NA PE1 8 +NX_O15374 487 54022 8.25 12 Cytoskeleton;Cytosol;Cytoskeleton;Cell membrane NA PE1 1 +NX_O15375 505 54994 8.59 12 Cell membrane NA PE2 17 +NX_O15379 428 48848 4.98 0 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleoplasm NA PE1 5 +NX_O15381 856 95051 6.11 0 Nucleolus;Nucleoplasm;Nucleolus NA PE1 1 +NX_O15382 392 44288 8.88 0 Mitochondrion;Cytoplasm NA PE1 19 +NX_O15389 551 60715 7.01 1 Membrane NA PE1 19 +NX_O15391 372 41347 5.76 0 Nucleus;Nucleus NA PE2 X +NX_O15392 142 16389 5.66 0 Cytoplasm;Nucleus;Centromere;Spindle;Cytoskeleton;Midbody;Kinetochore;Chromosome;Cytoplasm NA PE1 17 +NX_O15393 492 53859 8.12 1 Secreted;Cell membrane;Cell junction;Nucleoplasm NA PE1 21 +NX_O15394 837 93046 5.44 1 Cell membrane;Nucleus;Cell membrane NA PE1 21 +NX_O15397 1037 119938 5.04 0 Cytoplasm;Nucleus;Nucleus NA PE1 12 +NX_O15399 1336 143752 8.68 3 Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, early infantile, 46 PE1 19 +NX_O15400 261 29816 5.41 1 Lysosome;Early endosome membrane NA PE1 6 +NX_O15403 523 57393 7.95 12 Cell membrane;Cytoplasmic vesicle NA PE1 17 +NX_O15405 576 63342 7.36 0 Nucleus;Nucleoplasm NA PE1 16 +NX_O15409 715 79919 6.06 0 Centrosome;Cytoplasmic vesicle;Nucleus;Nucleoplasm Speech-language disorder 1 PE1 7 +NX_O15417 2968 314519 8.88 0 Cytosol;Nucleoplasm;Nucleus membrane;Mitochondrion NA PE1 7 +NX_O15427 465 49469 8.23 12 Nucleus membrane;Cell membrane;Cell membrane NA PE1 17 +NX_O15428 100 11021 9.59 0 NA NA PE5 1 +NX_O15431 190 21091 6.89 3 Cell membrane NA PE1 9 +NX_O15432 143 15681 6.25 3 Nucleus speckle;Cell membrane;Membrane;Cytoskeleton NA PE1 9 +NX_O15438 1527 169343 6.79 17 Membrane;Cell membrane NA PE1 17 +NX_O15439 1325 149527 8.41 14 Cytosol;Membrane;Nucleolus;Cell membrane NA PE1 13 +NX_O15440 1437 160660 8.87 13 Nucleus;Cell junction;Cell membrane;Membrane NA PE1 3 +NX_O15442 326 37207 6.17 0 NA NA PE2 22 +NX_O15444 150 16609 10.2 0 Secreted NA PE1 19 +NX_O15446 510 54986 8.66 0 Nucleolus;Mitochondrion;Nucleus;Nucleolus;Chromosome NA PE1 19 +NX_O15453 112 12357 7.7 0 NA NA PE2 17 +NX_O15455 904 103829 6.73 1 Endoplasmic reticulum membrane;Early endosome;Endosome membrane Herpes simplex encephalitis 2 PE1 4 +NX_O15457 936 104756 7.16 0 NA NA PE1 1 +NX_O15460 535 60902 5.49 0 Endoplasmic reticulum;Endoplasmic reticulum lumen;Cytoplasmic vesicle Myopia 25, autosomal dominant PE1 5 +NX_O15466 376 43895 9.19 1 Cell membrane;Golgi apparatus membrane;Midbody NA PE1 18 +NX_O15467 120 13600 9.61 0 Secreted NA PE1 17 +NX_O15479 319 35277 8.87 0 Cytosol;Nucleoplasm;Cytoplasmic vesicle NA PE1 X +NX_O15480 346 39211 10.07 0 NA NA PE1 X +NX_O15481 346 38923 9.28 0 Cytoplasm NA PE1 X +NX_O15482 410 46131 5.86 1 Membrane NA PE2 X +NX_O15484 640 73169 7.57 0 Cytosol;Nucleus Vitreoretinopathy, neovascular inflammatory PE1 11 +NX_O15488 501 55184 4.97 0 Cytosol;Nucleus;Nucleolus NA PE1 X +NX_O15492 202 22749 6.18 0 Cytosol;Membrane NA PE1 1 +NX_O15496 165 18153 6.07 0 Secreted NA PE1 16 +NX_O15498 198 22418 6.44 0 Cytosol;Cytoplasmic vesicle membrane;Cytosol;Golgi apparatus membrane;Mitochondrion NA PE1 7 +NX_O15499 205 21545 10.58 0 Nucleus NA PE2 22 +NX_O15503 277 29987 9.08 6 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA PE1 7 +NX_O15504 423 44872 9.25 0 Nuclear pore complex;Nucleus membrane;Nucleus NA PE1 7 +NX_O15511 151 16320 5.47 0 Cytoskeleton;Cell junction;Cytosol;Cell membrane;Cytoplasmic vesicle;Cell projection NA PE1 1 +NX_O15514 142 16311 4.75 0 Nucleoplasm;Nucleus;Nucleus speckle NA PE1 2 +NX_O15516 846 95304 6.51 0 Cytoplasm;Nucleus;Nucleoplasm NA PE1 4 +NX_O15519 480 55344 8.19 0 Cytoplasm;Nucleus;Cytosol;Nucleus;Cell membrane NA PE1 2 +NX_O15520 208 23436 9.61 0 Secreted Lacrimo-auriculo-dento-digital syndrome;Aplasia of lacrimal and salivary glands PE1 5 +NX_O15522 239 25866 9.47 0 Nucleoplasm;Cell membrane;Nucleus NA PE2 14 +NX_O15523 660 73154 7.24 0 Cytoplasm;Nucleus NA PE1 Y +NX_O15524 211 23551 10.98 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA PE1 16 +NX_O15525 162 17850 10.04 0 Nucleus NA PE1 17 +NX_O15527 345 38782 8.89 0 Nucleus;Nucleoplasm;Nucleus speckle;Nucleus matrix;Nucleoplasm;Mitochondrion Renal cell carcinoma PE1 3 +NX_O15528 508 56504 9.34 0 Mitochondrion membrane Rickets vitamin D-dependent 1A PE1 12 +NX_O15529 346 38695 7.55 7 Cell membrane NA PE1 19 +NX_O15530 556 63152 6.95 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cell membrane;Focal adhesion NA PE1 16 +NX_O15533 448 47626 6.68 1 Endoplasmic reticulum membrane Bare lymphocyte syndrome 1 PE1 6 +NX_O15534 1290 136212 5.73 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 17 +NX_O15535 394 45954 6.94 0 Nucleoplasm;Nucleus NA PE1 6 +NX_O15537 224 25592 5.51 0 Cell membrane;Secreted Retinoschisis juvenile X-linked 1 PE1 X +NX_O15539 181 20946 6.85 0 Nucleus;Cytoplasm;Membrane;Cytoplasm;Cytosol NA PE1 1 +NX_O15540 132 14889 5.4 0 Cytosol;Nucleoplasm;Cytoplasm NA PE1 6 +NX_O15541 343 38787 5.51 0 NA Trichothiodystrophy 5, non-photosensitive PE1 X +NX_O15544 149 16056 6.27 0 NA NA PE2 3 +NX_O15547 441 48829 7.52 2 Cytosol;Nucleolus;Membrane NA PE1 22 +NX_O15550 1401 154177 7.17 0 Nucleus Kabuki syndrome 2 PE1 X +NX_O15551 220 23319 8.37 4 Tight junction;Cell membrane;Cell junction NA PE1 7 +NX_O15552 330 37144 9.5 7 Cell membrane NA PE1 19 +NX_O15553 781 86444 8.3 0 Autophagosome;Cytoskeleton;Ruffle;Lamellipodium;Nucleus;Cytoplasm Familial Mediterranean fever, autosomal dominant;Familial Mediterranean fever, autosomal recessive PE1 16 +NX_O15554 427 47696 9.87 6 Cell membrane Dehydrated hereditary stomatocytosis 2 PE1 19 +NX_O42043 560 63671 7.83 1 Cell membrane;Cell membrane;Virion NA PE1 1 +NX_O43143 795 90933 7.12 0 Nucleus;Nucleus speckle;Nucleus;Nucleolus NA PE1 4 +NX_O43147 1006 113285 6.2 0 Melanosome;Cytoplasm;Nucleoplasm;Cytosol NA PE1 17 +NX_O43148 476 54844 6.29 0 Nucleoplasm;Nucleus;Nucleolus NA PE1 18 +NX_O43149 2961 331075 5.62 0 Nucleoplasm;Mitochondrion NA PE1 17 +NX_O43150 1006 111651 6.24 0 Cytosol;Cytoplasm;Golgi stack membrane;Cell membrane;Cytoplasm NA PE1 2 +NX_O43151 1660 179350 7.01 0 Cytoplasmic vesicle;Chromosome;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA PE1 2 +NX_O43155 660 74049 7.88 1 Cell membrane;Microsome membrane;Endoplasmic reticulum membrane;Focal adhesion;Extracellular matrix;Secreted;Synaptosome NA PE1 14 +NX_O43156 1089 122069 5.63 0 Nucleoplasm;Cytoplasmic vesicle;Cytoplasm NA PE1 20 +NX_O43157 2135 232298 5.29 1 Cell membrane;Secreted NA PE1 3 +NX_O43159 456 50715 9.51 0 Nucleolus;Cytosol;Nucleolus;Nucleus NA PE1 11 +NX_O43164 708 78214 4.28 0 Cell membrane;Endoplasmic reticulum membrane;Cytoskeleton;Golgi apparatus membrane;Cytoplasm;Postsynaptic density;Synapse NA PE1 5 +NX_O43166 1804 200029 8.4 0 Synaptosome;Postsynaptic density;Cell membrane;Cytoskeleton;Cytoskeleton NA PE1 14 +NX_O43167 697 78282 7.42 0 Centrosome;Nucleus;Cytoskeleton;Nucleus Immunodeficiency-centromeric instability-facial anomalies syndrome 2 PE1 6 +NX_O43169 146 16332 4.88 1 Mitochondrion outer membrane;Microtubule organizing center;Endoplasmic reticulum;Cytosol NA PE1 16 +NX_O43172 522 58449 7.05 0 Nucleus speckle;Nucleus speckle Retinitis pigmentosa 70 PE1 9 +NX_O43173 380 43970 9.56 1 Golgi apparatus;Golgi apparatus membrane NA PE1 18 +NX_O43174 497 56199 8.96 0 Microsome membrane;Endoplasmic reticulum membrane NA PE1 10 +NX_O43175 533 56650 6.29 0 Cell membrane;Cytosol;Nucleoplasm Phosphoglycerate dehydrogenase deficiency;Neu-Laxova syndrome 1 PE1 1 +NX_O43181 175 20108 10.3 0 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex I deficiency;Leigh syndrome PE1 5 +NX_O43182 974 105947 7 0 Cytoplasm NA PE1 X +NX_O43184 909 99542 8.79 1 Cell membrane;Cell membrane;Secreted NA PE1 10 +NX_O43186 299 32261 9.23 0 Nucleus Leber congenital amaurosis 7;Retinitis pigmentosa;Cone-rod dystrophy 2 PE1 19 +NX_O43187 625 69433 5.51 0 Cytoplasmic vesicle NA PE1 3 +NX_O43189 567 62106 9.27 0 Centrosome;Nucleoplasm;Nucleus NA PE1 6 +NX_O43193 412 45344 9.97 7 Cell membrane NA PE2 13 +NX_O43194 453 51329 9.43 7 Cell membrane NA PE1 2 +NX_O43196 834 92875 5.95 0 Cytoplasmic vesicle;Endoplasmic reticulum Premature ovarian failure 13 PE1 6 +NX_O43236 478 55098 5.77 0 Cytoplasm;Cytoskeleton;Flagellum;Mitochondrion;Nucleoplasm;Nucleus NA PE1 17 +NX_O43237 492 54099 5.97 0 Centrosome;Cytosol;Cytoskeleton NA PE1 16 +NX_O43240 276 30170 8.95 0 Cytosol;Cell membrane;Secreted NA PE1 19 +NX_O43242 534 60978 8.47 0 Cytosol;Nucleoplasm NA PE1 17 +NX_O43246 635 68268 6.59 13 Membrane NA PE1 22 +NX_O43247 280 30725 7.77 0 NA NA PE1 22 +NX_O43248 304 33748 8.81 0 Cytosol;Nucleus;Nucleoplasm NA PE1 12 +NX_O43251 390 41374 6.71 0 Nucleoplasm;Nucleus;Cytoplasm;Nucleus NA PE1 22 +NX_O43252 624 70833 6.4 0 Nucleus;Nucleolus NA PE1 4 +NX_O43255 324 34615 6.71 0 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Nucleus NA PE1 3 +NX_O43257 154 17536 9.55 0 Nucleoplasm;Nucleus NA PE1 7 +NX_O43261 78 8962 5.14 0 Cytosol;Cell membrane NA PE1 13 +NX_O43264 779 88829 5.89 0 Endoplasmic reticulum;Cytoplasm;Cytosol;Cytoplasm;Endoplasmic reticulum membrane;Kinetochore;Spindle NA PE1 11 +NX_O43272 600 68002 7.96 0 Mitochondrion matrix Hyperprolinemia 1;Schizophrenia 4 PE1 22 +NX_O43278 529 58398 5.89 0 Cell membrane;Secreted;Cytosol NA PE1 15 +NX_O43280 583 66568 5.46 0 Cell membrane NA PE1 11 +NX_O43281 561 58815 4.98 0 Nucleoplasm;Cytosol NA PE1 14 +NX_O43283 966 108296 6.05 0 Microtubule organizing center;Cytosol;Nucleoplasm;Membrane;Cytoplasm NA PE1 3 +NX_O43286 388 45119 8.21 1 Golgi stack membrane NA PE1 20 +NX_O43290 800 90255 5.89 0 Nucleus speckle;Golgi apparatus;Nucleus NA PE1 11 +NX_O43291 252 28228 8.68 1 Cytosol;Cell membrane;Cytoskeleton;Membrane Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies PE1 19 +NX_O43292 621 67623 8.15 7 Endoplasmic reticulum membrane NA PE1 8 +NX_O43293 454 52536 6.44 0 Nucleus;Cytoplasm;Nucleus NA PE1 19 +NX_O43294 461 49814 6.62 0 Nucleus matrix;Cytosol;Focal adhesion;Focal adhesion;Cytoskeleton NA PE1 16 +NX_O43295 1099 124504 6.23 0 Nucleoplasm NA PE1 3 +NX_O43296 627 70587 7.36 0 Nucleus NA PE1 19 +NX_O43298 467 52630 5.46 0 Nucleus;Nucleolus;Nucleus NA PE1 9 +NX_O43299 807 88605 6.57 0 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle Spastic paraplegia 48, autosomal recessive PE1 7 +NX_O43300 516 59076 8.27 1 Cell membrane;Postsynaptic cell membrane NA PE1 5 +NX_O43301 675 74978 6.32 0 Cytosol;Golgi apparatus NA PE1 10 +NX_O43303 1012 113424 8.83 0 Centriole;Centrosome;Centrosome;Cilium basal body NA PE1 16 +NX_O43304 696 78942 6.08 0 Golgi apparatus;Cytosol NA PE1 16 +NX_O43306 1168 130615 8.56 12 Cell membrane;Cilium;Golgi apparatus Lethal congenital contracture syndrome 8 PE1 12 +NX_O43307 516 60982 5.47 0 Cytosol;Cytoplasm Epileptic encephalopathy, early infantile, 8 PE1 X +NX_O43309 604 70222 6.28 0 Cytosol;Cytoskeleton;Nucleus NA PE1 6 +NX_O43310 598 67587 6.1 0 Cytosol;Perinuclear region NA PE1 18 +NX_O43312 755 82251 6.47 0 Cytoskeleton NA PE1 8 +NX_O43313 823 88348 5.02 0 Nucleus;Nucleus NA PE1 16 +NX_O43314 1243 140407 8.47 0 Cytoplasmic vesicle;Cytosol NA PE1 5 +NX_O43315 295 31431 7.67 6 Membrane NA PE1 15 +NX_O43316 350 37833 9.42 0 Nucleus Maturity-onset diabetes of the young 9;Diabetes mellitus, non-insulin-dependent;Diabetes mellitus, insulin-dependent;Diabetes mellitus, ketosis-prone PE1 7 +NX_O43318 606 67196 6.69 0 Cytoplasm;Cell membrane;Cytosol;Nucleus speckle Frontometaphyseal dysplasia 2;Cardiospondylocarpofacial syndrome PE1 6 +NX_O43320 207 23759 9.22 0 Secreted Metacarpal 4-5 fusion PE1 X +NX_O43323 396 43577 9.4 0 Extracellular space;Cell membrane 46,XY sex reversal 7;Partial gonadal dysgenesis with minifascicular neuropathy 46,XY PE1 12 +NX_O43324 174 19811 8.55 0 Cytoplasm;Nucleus;Cytosol;Nucleus;Cytosol;Nucleus;Cytoplasm NA PE1 6 +NX_O43325 122 14282 9.95 0 Nucleus;Midbody;Nucleoplasm NA PE1 16 +NX_O43345 1280 147487 9.2 0 Nucleus NA PE2 19 +NX_O43347 362 39125 7.7 0 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA PE1 12 +NX_O43353 540 61195 6.63 0 Cytosol;Cytoplasm NA PE1 8 +NX_O43361 778 90364 9.01 0 Nucleus;Nucleus membrane;Nucleoplasm NA PE1 19 +NX_O43364 376 41002 5.54 0 Nucleus;Cytoplasmic vesicle;Nucleus Microtia, hearing impairment, and cleft palate;Microtia with or without hearing impairment PE1 7 +NX_O43365 443 46369 9.3 0 Nucleus;Nucleoplasm NA PE1 7 +NX_O43374 803 90458 8.01 0 Cytosol;Cell membrane NA PE2 7 +NX_O43379 1518 165954 5.57 0 Cytosol;Nucleus;Centriole;Spindle pole;Centrosome Microcephaly 2, primary, autosomal recessive, with or without cortical malformations PE1 19 +NX_O43390 633 70943 8.23 0 Nucleoplasm;Microsome;Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_O43395 683 77529 9.5 0 Nucleus speckle;Nucleoplasm Retinitis pigmentosa 18 PE1 1 +NX_O43396 289 32251 4.84 0 Cytoplasm;Nucleus;Cytoplasm;Nucleus;Cytosol NA PE1 18 +NX_O43399 206 22238 5.26 0 Cytosol;Cytoplasmic vesicle NA PE1 20 +NX_O43402 210 23773 5.92 0 Mitochondrion;Cytoplasm;Cytoplasm;Cytosol NA PE1 16 +NX_O43405 550 59483 8.17 0 Cytoplasmic vesicle;Extracellular matrix Deafness, autosomal dominant, 9 PE1 14 +NX_O43414 337 37238 8.33 0 Cytosol;Nucleoplasm NA PE1 1 +NX_O43422 761 87704 5.58 0 Nucleoplasm NA PE1 11 +NX_O43423 234 26762 4.14 0 NA NA PE1 4 +NX_O43424 1007 113356 5.73 3 Postsynaptic cell membrane;Cell membrane Spinocerebellar ataxia, autosomal recessive, 18 PE1 4 +NX_O43426 1573 173103 7.13 0 Cytosol;Centrosome;Perinuclear region;Nucleoplasm Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset PE1 21 +NX_O43427 364 41878 6.02 0 Nucleus speckle;Nucleus;Endomembrane system Thauvin-Robinet-Faivre syndrome PE1 11 +NX_O43432 1585 176652 5.27 0 Cytoplasm;Cytosol NA PE1 1 +NX_O43435 398 43133 8.37 0 Cytosol;Nucleus;Nucleus Velocardiofacial syndrome;Conotruncal heart malformations;DiGeorge syndrome PE1 22 +NX_O43439 604 67133 8.32 0 Nucleus speckle;Nucleus NA PE1 20 +NX_O43447 177 19208 8.28 0 Nucleus speckle;Cytoplasm NA PE1 1 +NX_O43448 404 43670 8.87 0 Mitochondrion;Cytoplasm NA PE2 17 +NX_O43451 1857 209852 5.27 1 Apical cell membrane NA PE1 7 +NX_O43462 519 57444 7.21 10 Cytosol;Mitochondrion;Membrane;Cytoplasm;Nucleoplasm Keratosis follicularis spinulosa decalvans X-linked;IFAP syndrome with or without BRESHECK syndrome;Olmsted syndrome, X-linked PE1 X +NX_O43463 412 47907 8.38 0 Nucleus;Nucleus lamina;Nucleoplasm;Centromere NA PE1 X +NX_O43464 458 48841 10.07 1 Mitochondrion;Mitochondrion intermembrane space;Mitochondrion membrane Parkinson disease 13;3-methylglutaconic aciduria 8 PE1 2 +NX_O43474 513 54671 8.69 0 Nucleus;Nucleoplasm NA PE1 9 +NX_O43482 229 24691 7.02 0 Nucleus;Chromosome;Centromere;Nucleoplasm NA PE1 15 +NX_O43488 359 39589 6.7 0 Golgi apparatus;Cytoplasm NA PE1 1 +NX_O43490 865 97202 6.97 5 Cell membrane;Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum;Apical cell membrane;Microvillus membrane;Photoreceptor outer segment Stargardt disease 4;Retinitis pigmentosa 41;Retinal macular dystrophy 2;Cone-rod dystrophy 12 PE1 4 +NX_O43491 1005 112588 5.34 0 Cell cortex;Nucleus;Cytoskeleton;Cell junction;Cell membrane;Cell membrane NA PE1 6 +NX_O43493 480 51113 5.53 1 Nucleoplasm;Golgi apparatus;trans-Golgi network membrane;Cell membrane NA PE1 2 +NX_O43497 2377 262472 6.14 24 Cell membrane;Cytoplasm Spinocerebellar ataxia 42 PE1 17 +NX_O43502 376 42190 6.28 0 Cytoplasmic vesicle;Nucleus;Cell junction;Cytosol;Nucleus;Cytoplasm;Perinuclear region;Mitochondrion;Mitochondrion Fanconi anemia complementation group O;Breast-ovarian cancer, familial, 3 PE1 17 +NX_O43504 91 9614 4.69 0 Cytoplasm;Lysosome NA PE1 1 +NX_O43505 415 47119 6.77 1 Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 PE1 11 +NX_O43506 726 81603 6.02 1 Membrane NA PE1 14 +NX_O43508 249 27216 9.5 1 Cell membrane;Secreted;Cell membrane NA PE1 17 +NX_O43511 780 85723 6.04 12 Membrane;Cell membrane Pendred syndrome;Deafness, autosomal recessive, 4 PE1 7 +NX_O43513 233 27245 5.5 0 Nucleus;Nucleus NA PE1 5 +NX_O43516 503 51258 11.47 0 Cell membrane;Cytoplasmic vesicle;Cytoskeleton;Ruffle;Cytosol Wiskott-Aldrich syndrome 2 PE1 2 +NX_O43520 1251 143695 6.77 10 Cell membrane;Apical cell membrane;Stereocilium;Golgi apparatus;Endoplasmic reticulum Cholestasis of pregnancy, intrahepatic 1;Cholestasis, progressive familial intrahepatic, 1;Cholestasis, benign recurrent intrahepatic, 1 PE1 18 +NX_O43521 198 22171 8.43 0 Endomembrane system;Mitochondrion NA PE1 2 +NX_O43524 673 71277 4.98 0 Nucleus;Cytosol;Nucleus NA PE1 6 +NX_O43525 872 96742 8.98 6 Cell membrane Seizures, benign familial neonatal 2 PE1 8 +NX_O43526 872 95848 9.35 6 Cell membrane;Endoplasmic reticulum Epileptic encephalopathy, early infantile, 7;Seizures, benign familial neonatal 1 PE1 20 +NX_O43529 356 42207 8.11 1 Golgi apparatus membrane;Cytosol NA PE1 2 +NX_O43541 496 53497 8.46 0 Nucleus;Nucleus;Nucleus;Golgi apparatus Aortic valve disease 2;Craniosynostosis 7 PE1 15 +NX_O43542 346 37850 8.81 0 Nucleus;Perinuclear region;Mitochondrion;Nucleus;Cytoplasm Melanoma, cutaneous malignant 6;Breast cancer PE1 14 +NX_O43543 280 31956 5.67 0 Centrosome;Nucleus;Cytoplasmic vesicle;Nucleoplasm Fanconi anemia, complementation group U PE1 7 +NX_O43548 720 80778 6.01 0 Cytoplasm Peeling skin syndrome 2 PE1 15 +NX_O43555 120 12918 11.12 0 Secreted NA PE2 20 +NX_O43556 437 49851 6.12 1 Sarcolemma;Cytoskeleton;Dendrite;Golgi apparatus;Golgi apparatus;Nucleoplasm;Cell membrane;Cytoplasmic vesicle Dystonia 11, myoclonic PE1 7 +NX_O43557 240 26350 9.09 1 Cytoplasm;Secreted;Cell membrane NA PE1 19 +NX_O43559 492 54462 6.81 0 Membrane;Nucleoplasm NA PE1 6 +NX_O43561 262 27930 4.27 1 Cell membrane Immunodeficiency 52 PE1 16 +NX_O43566 566 61447 8.46 0 Membrane;PML body;Cytoplasm;Cell membrane;Nucleoplasm;Cytoplasmic vesicle;Centrosome;Spindle;Spindle pole;Dendrite;Dendritic spine;Postsynaptic density;Nucleus NA PE1 5 +NX_O43567 381 42814 4.83 1 Cytoplasmic vesicle;Cytosol;Nucleoplasm;Endoplasmic reticulum membrane;Golgi apparatus membrane;Late endosome membrane;Lysosome membrane;Nucleus inner membrane NA PE1 3 +NX_O43570 354 39451 6.73 1 Nucleus;Membrane;Cytoplasmic vesicle Hyperchlorhidrosis, isolated PE1 15 +NX_O43572 662 73818 5.96 0 Mitochondrion;Membrane;Cytoplasm;Cell membrane;Cytosol Sudden cardiac death PE1 17 +NX_O43581 403 45501 9.29 1 Secretory vesicle membrane;Phagosome membrane;Lysosome membrane;Cell membrane;Presynaptic cell membrane;Synaptic vesicle membrane;Peroxisome membrane NA PE1 11 +NX_O43583 198 22092 5.21 0 Cytosol NA PE1 12 +NX_O43586 416 47591 5.35 0 Cytoplasm;Cell membrane;Uropodium;Cytoskeleton;Perinuclear region;Lamellipodium;Cleavage furrow PAPA syndrome PE1 15 +NX_O43592 962 109964 5.24 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA PE1 12 +NX_O43593 1189 127495 6.67 0 Nucleoplasm;Nucleus Hypotrichosis 4;Atrichia with papular lesions;Alopecia universalis congenita PE1 8 +NX_O43597 315 34688 8.78 0 Endosome;Ruffle membrane;Cytoskeleton;Cytoskeleton IgA nephropathy 3 PE1 13 +NX_O43598 174 19108 4.97 0 Nucleus;Cytosol;Cytoplasm;Nucleoplasm NA PE1 6 +NX_O43602 365 40574 9.33 0 Cytoplasm;Cell projection Lissencephaly, X-linked 1;Subcortical band heterotopia X-linked PE1 X +NX_O43603 387 41700 9.6 7 Cell membrane NA PE1 17 +NX_O43609 319 35122 8.65 0 Membrane;Nucleoplasm;Golgi apparatus;Cytosol;Cytoplasm NA PE1 4 +NX_O43610 288 31222 7.4 0 Cytoplasm;Membrane;Nucleolus;Cytosol NA PE1 X +NX_O43612 131 13363 10.8 0 Synapse;Rough endoplasmic reticulum;Cytoplasmic vesicle Narcolepsy 1 PE1 17 +NX_O43613 425 47536 9.3 7 Cell membrane NA PE1 1 +NX_O43614 444 50694 8.99 7 Cell membrane NA PE1 6 +NX_O43615 452 51356 8.51 0 Mitochondrion inner membrane;Mitochondrion;Mitochondrion matrix NA PE1 19 +NX_O43617 180 20274 4.88 0 Golgi apparatus;Endoplasmic reticulum;Golgi apparatus;Cytosol;cis-Golgi network;Endoplasmic reticulum NA PE1 1 +NX_O43623 268 29986 9.01 0 Nucleus;Nucleus;Cytoplasm Piebald trait;Waardenburg syndrome 2D PE1 8 +NX_O43633 222 25104 5.87 0 Nucleus;Cell membrane;Late endosome membrane;Cytosol NA PE1 19 +NX_O43638 330 35434 9.28 0 Nucleus;Nucleoplasm;Cytosol NA PE1 20 +NX_O43639 380 42915 6.49 0 Endoplasmic reticulum;Cytoplasm NA PE1 2 +NX_O43653 123 12912 5.07 0 Cell membrane;Cell membrane NA PE1 8 +NX_O43657 245 27563 8.44 4 Membrane;Cytosol NA PE1 X +NX_O43660 514 57194 9.24 0 Nucleus membrane;Nucleus speckle;Nucleus speckle;Nucleus NA PE1 4 +NX_O43663 620 71607 6.29 0 Nucleus;Nucleus;Cytoplasm;Spindle pole;Midbody;Cytoskeleton;Nucleoplasm;Cell membrane NA PE1 15 +NX_O43665 173 20236 5.35 0 Nucleus;Cytoplasm;Nucleus;Nucleus;Cell membrane;Cytosol NA PE1 10 +NX_O43670 478 50751 9.19 0 Nucleus;Kinetochore;Spindle;Nucleus NA PE1 17 +NX_O43674 189 21750 9.62 1 Mitochondrion;Mitochondrion inner membrane;Nucleoplasm NA PE1 3 +NX_O43676 98 11402 9.19 1 Mitochondrion inner membrane Mitochondrial complex I deficiency PE1 2 +NX_O43677 76 8734 10.2 1 Cell membrane;Mitochondrion;Mitochondrion inner membrane;Mitochondrion NA PE1 4 +NX_O43678 99 10922 9.62 0 Mitochondrion inner membrane NA PE1 5 +NX_O43679 373 42793 6.47 0 Nucleus;Nucleolus;Nucleus NA PE1 4 +NX_O43680 179 19715 9.15 0 Nucleus NA PE2 6 +NX_O43681 348 38793 4.81 0 Nucleus;Nucleolus;Nucleolus;Endoplasmic reticulum;Cytoplasm NA PE1 19 +NX_O43683 1085 122375 6.03 0 Kinetochore;Nucleoplasm;Cytosol;Nucleus NA PE1 2 +NX_O43684 328 37155 6.36 0 Nucleoplasm;Kinetochore;Nucleus NA PE1 10 +NX_O43687 104 11465 4.89 0 Lateral cell membrane;Apical cell membrane NA PE1 6 +NX_O43688 288 32574 8.65 6 Membrane;Mitochondrion NA PE1 19 +NX_O43692 258 29065 8.37 0 Secreted NA PE1 8 +NX_O43699 453 49913 6.7 1 Cell membrane;Secreted NA PE1 19 +NX_O43704 296 34899 6.57 0 Golgi apparatus;Nucleoplasm;Cytoplasm NA PE1 4 +NX_O43707 911 104854 5.27 0 Cytosol;Cell junction;Cytoplasm;Nucleus;Nucleus Focal segmental glomerulosclerosis 1 PE1 19 +NX_O43708 216 24212 8.8 0 Nucleus;Cytosol;Cytoplasm Maleylacetoacetate isomerase deficiency PE1 14 +NX_O43709 281 31880 8.95 0 Nucleus;Nucleolus;Nucleoplasm;Perinuclear region;Cytoplasm;Nucleus NA PE1 7 +NX_O43711 291 31867 9.95 0 Centrosome;Nucleoplasm;Nucleus NA PE1 5 +NX_O43715 76 8786 5.37 0 Mitochondrion;Nucleoplasm;Mitochondrion intermembrane space;Mitochondrion;Perinuclear region NA PE1 12 +NX_O43716 136 15086 4.94 0 Mitochondrion NA PE1 12 +NX_O43719 755 85853 4.29 0 Nucleus;Nucleoplasm NA PE1 X +NX_O43731 214 25027 9.07 7 Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 22 +NX_O43734 574 64666 6.27 0 Golgi apparatus;Cytoplasmic vesicle Psoriasis 13;Candidiasis, familial, 8 PE1 6 +NX_O43736 263 29741 5.65 1 Nucleoplasm;Membrane NA PE1 X +NX_O43739 400 46349 5.35 0 Cytosol;Cell membrane;Adherens junction;Nucleoplasm;Cytosol;Tight junction NA PE1 7 +NX_O43741 272 30302 5.99 0 Nucleoplasm NA PE1 1 +NX_O43745 196 22452 5.89 0 Nucleus;Cytoplasm;Cell membrane NA PE1 16 +NX_O43747 822 91351 6.36 0 Golgi apparatus;Cytosol;Cytoplasmic vesicle;Clathrin-coated vesicle membrane NA PE1 16 +NX_O43749 312 34866 7.59 7 Cell membrane NA PE2 16 +NX_O43752 255 29176 4.84 1 Golgi apparatus membrane;Nucleoplasm;Golgi apparatus NA PE1 1 +NX_O43759 233 25456 4.5 4 Cytosol;Synaptic vesicle membrane;Melanosome NA PE1 22 +NX_O43760 224 24810 4.75 4 Cytoplasmic vesicle membrane;Synaptic vesicle membrane;Lipid droplet NA PE1 17 +NX_O43761 229 24555 8.42 4 Cell membrane;Synapse;Synaptic vesicle membrane NA PE1 16 +NX_O43763 284 30251 11.09 0 Nucleoplasm;Nucleus NA PE1 2 +NX_O43765 313 34063 4.81 0 Cytoplasm;Nucleus;Cytoplasm;Nucleoplasm NA PE1 19 +NX_O43766 372 41911 8.84 0 Mitochondrion;Mitochondrion;Nucleoplasm Hyperglycinemia, lactic acidosis, and seizures PE1 4 +NX_O43768 121 13389 6.62 0 Cytosol;Cytoplasm;Nucleolus;Cytoskeleton;Nucleus NA PE1 1 +NX_O43772 301 32944 9.48 6 Mitochondrion inner membrane;Cytosol;Mitochondrion Carnitine-acylcarnitine translocase deficiency PE1 3 +NX_O43776 548 62943 5.9 0 Cytosol;Cytoplasm NA PE1 18 +NX_O43781 588 65714 9.41 0 Cytosol;Nucleoplasm;Cytoplasmic granule;Nucleus NA PE1 1 +NX_O43790 486 53501 5.56 0 Cytosol Monilethrix PE1 12 +NX_O43791 374 42132 5.58 0 Nucleus;Nucleus speckle NA PE1 17 +NX_O43795 1136 131985 9.43 0 Cell membrane NA PE1 2 +NX_O43805 119 13596 5.37 0 Nucleus;Centrosome NA PE1 9 +NX_O43808 307 34567 10.09 6 Peroxisome;Peroxisome membrane;Cytoplasm NA PE1 22 +NX_O43809 227 26227 8.85 0 Centrosome;Nucleus;Microtubule organizing center;Nucleus NA PE1 16 +NX_O43812 170 19347 11.17 0 Nucleus NA PE1 10 +NX_O43813 399 45283 7.86 0 Cytoplasm;Cytoskeleton;Cell membrane NA PE1 2 +NX_O43815 780 86132 5.12 0 Nucleoplasm;Cytoplasm;Membrane;Dendritic spine;Cytosol NA PE1 2 +NX_O43818 475 51841 7.97 0 Nucleus;Nucleolus NA PE1 3 +NX_O43819 266 29810 9.01 0 Mitochondrion;Nucleoplasm;Mitochondrion Myopia 6;Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1;Leigh syndrome PE1 22 +NX_O43820 417 46501 8.55 0 Secreted;Endoplasmic reticulum;Acrosome;Early endosome;Cell membrane NA PE1 3 +NX_O43822 256 28340 6.97 0 Cilium basal body;Cytoplasm;Photoreceptor outer segment;Mitochondrion;Nucleoplasm Retinal dystrophy with or without macular staphyloma;Spondylometaphyseal dysplasia, axial PE1 21 +NX_O43823 692 76108 5.03 0 Nucleoplasm;Nucleus;Nucleus matrix;Nucleolus;Cytoplasm NA PE1 19 +NX_O43824 516 56883 9.49 0 Mitochondrion NA PE1 X +NX_O43825 422 49213 9.5 1 Cell membrane;Golgi apparatus membrane NA PE1 1 +NX_O43826 429 46360 8.85 10 Mitochondrion;Endoplasmic reticulum membrane Glycogen storage disease 1D;Glycogen storage disease 1C;Glycogen storage disease 1B PE1 11 +NX_O43827 346 40018 7.98 0 Secreted NA PE1 1 +NX_O43829 449 50956 5.69 0 Cytosol;Nucleus;Nucleus;Nucleolus NA PE1 18 +NX_O43830 326 38241 9.35 0 Nucleus NA PE3 22 +NX_O43837 385 42184 8.64 0 Mitochondrion;Mitochondrion Retinitis pigmentosa 46 PE1 20 +NX_O43847 1150 131572 4.89 0 Nucleoplasm NA PE1 1 +NX_O43852 315 37107 4.47 0 Sarcoplasmic reticulum lumen;Endoplasmic reticulum membrane;Endoplasmic reticulum;Golgi apparatus;Secreted;Melanosome NA PE1 7 +NX_O43854 480 53765 7.08 0 Secreted NA PE1 5 +NX_O43861 1147 129304 7.67 10 trans-Golgi network membrane NA PE1 18 +NX_O43865 530 58951 6.49 0 Cytosol;Cytosol;Microsome;Apical cell membrane;Endoplasmic reticulum NA PE1 1 +NX_O43866 347 38088 5.28 0 Secreted;Cytoplasm NA PE1 1 +NX_O43868 658 71926 8.29 14 Membrane NA PE2 15 +NX_O43869 369 41996 8.71 7 Cell membrane NA PE3 1 +NX_O43889 395 43917 4.84 1 Endoplasmic reticulum membrane;Membrane;Nucleus;Cytoplasm;Cytosol;Nucleus NA PE1 9 +NX_O43895 674 75625 5.69 0 Cell membrane;Golgi apparatus Angioedema induced by ACE inhibitors PE1 X +NX_O43896 1103 122947 6.47 0 Cytoskeleton Spastic ataxia 2, autosomal recessive PE1 17 +NX_O43897 1013 114709 5.69 0 Secreted;Cytoplasmic vesicle Atrial septal defect 6 PE1 4 +NX_O43900 615 68609 8.24 0 Cell membrane;Nucleus;Cytoplasm;Cell membrane;Centrosome NA PE1 X +NX_O43903 313 34945 8.76 0 Cytosol;Nucleolus;Cell membrane;Nucleus;Cytoskeleton;Membrane NA PE1 11 +NX_O43908 158 18234 9.28 1 Membrane NA PE2 12 +NX_O43909 919 104749 6.08 1 Endoplasmic reticulum membrane;Golgi apparatus Immunoskeletal dysplasia with neurodevelopmental abnormalities PE1 8 +NX_O43913 435 50283 7.63 0 Cytosol;Nucleus;Nucleus NA PE1 7 +NX_O43914 113 12179 8.55 1 Membrane Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy PE1 19 +NX_O43915 354 40444 8.16 0 Secreted NA PE1 X +NX_O43916 411 46715 9.17 1 Golgi apparatus membrane NA PE1 11 +NX_O43918 545 57727 7.53 0 Nucleus;Cytoplasm Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia PE1 21 +NX_O43920 106 12518 9.27 0 Cytosol;Mitochondrion intermembrane space;Nucleus;Mitochondrion inner membrane NA PE1 1 +NX_O43921 213 23878 6.99 0 Cell membrane NA PE1 19 +NX_O43924 150 17420 5.57 0 Cytosol;Cytoplasmic vesicle membrane;Cilium basal body Joubert syndrome 22 PE1 2 +NX_O43927 109 12664 10.35 0 Secreted NA PE1 4 +NX_O43929 436 50377 8.08 0 Nucleolus;Nucleus;Nucleus Meier-Gorlin syndrome 2 PE1 2 +NX_O43930 277 31708 6.46 0 NA NA PE5 Y +NX_O43933 1283 142867 5.91 0 Peroxisome;Cytoplasm;Peroxisome membrane Peroxisome biogenesis disorder complementation group 1;Heimler syndrome 1;Peroxisome biogenesis disorder 1A;Peroxisome biogenesis disorder 1B PE1 7 +NX_O43934 449 49202 5.48 12 Nucleus speckle;Membrane NA PE1 17 +NX_O60216 631 71690 4.54 0 Nucleoplasm;Nucleus;Chromosome;Centromere Cornelia de Lange syndrome 4 PE1 8 +NX_O60218 316 36020 7.66 0 Lysosome;Secreted NA PE1 7 +NX_O60220 97 10998 5.08 0 Mitochondrion inner membrane;Mitochondrion Mohr-Tranebjaerg syndrome PE1 X +NX_O60224 188 21858 9.16 0 NA NA PE2 X +NX_O60225 188 21660 9.35 0 NA NA PE1 X +NX_O60229 2985 340174 5.72 0 Cytoplasm;Cytoskeleton;Nucleoplasm;Cytosol Coronary heart disease 5 PE1 3 +NX_O60231 1041 119264 6.39 0 Nucleus;Nucleus;Nucleoplasm NA PE1 6 +NX_O60232 199 21474 5.12 0 Cytosol NA PE1 11 +NX_O60234 142 16801 5.18 0 NA NA PE1 19 +NX_O60235 418 46263 8.69 1 Cell membrane;Secreted NA PE1 4 +NX_O60237 982 110404 5.53 0 Cytoskeleton;Cell membrane;Cytoplasm NA PE1 1 +NX_O60238 219 23930 5.52 1 Nucleus;Cytoplasm;Nucleus speckle;Membrane;Mitochondrion;Nucleus envelope;Endoplasmic reticulum;Mitochondrion outer membrane NA PE1 8 +NX_O60239 455 50425 4.92 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 3 +NX_O60240 522 55990 6.03 0 Endoplasmic reticulum;Peroxisome;Lipid droplet Lipodystrophy, familial partial, 4 PE1 15 +NX_O60241 1585 172656 7.5 7 Centrosome;Cell membrane NA PE1 1 +NX_O60242 1522 171518 6.69 7 Cell membrane NA PE1 6 +NX_O60243 411 48226 9.04 1 Membrane;Nucleoplasm Hypogonadotropic hypogonadism 15 with or without anosmia PE1 2 +NX_O60244 1454 160607 8.97 0 Nucleoplasm;Nucleus NA PE1 X +NX_O60245 1069 116071 5.02 1 Cell junction;Cell membrane;Cell membrane NA PE1 4 +NX_O60248 233 25251 9.78 0 Cytoplasmic vesicle;Nucleus;Nucleus;Nucleolus;Golgi apparatus NA PE1 17 +NX_O60256 369 40926 7.08 0 Nucleoplasm;Cytosol NA PE1 17 +NX_O60258 216 24891 10.43 0 Secreted Hypogonadotropic hypogonadism 20 with or without anosmia PE1 8 +NX_O60259 260 28048 7.52 0 Secreted;Cytoplasm;Cytoplasmic vesicle NA PE1 19 +NX_O60260 465 51641 6.71 0 Endoplasmic reticulum;Mitochondrion;Cytosol;Nucleus Parkinson disease;Parkinson disease 2 PE1 6 +NX_O60262 68 7522 8.71 0 Cell membrane NA PE1 19 +NX_O60264 1052 121905 8.27 0 Nucleolus;Nucleus;Nucleus NA PE1 4 +NX_O60266 1144 128960 6.15 12 Cell membrane;Cytoplasm;Cilium;Golgi apparatus NA PE1 2 +NX_O60268 411 46639 4.98 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 16 +NX_O60269 458 47450 6.28 0 NA NA PE1 10 +NX_O60271 1321 146205 5.05 0 Microtubule organizing center;Cytoplasm;Cytosol;Acrosome;Perinuclear region;Cytoplasm NA PE1 17 +NX_O60279 629 68021 4.79 1 Golgi apparatus;Cytoplasmic vesicle;Membrane NA PE1 3 +NX_O60281 2723 304816 7.27 0 Nucleus;Nucleus membrane;Nucleus NA PE1 6 +NX_O60282 957 109495 5.86 0 Cell membrane;Nucleolus;Cytoskeleton;Cytosol Cortical dysplasia, complex, with other brain malformations 2 PE1 2 +NX_O60284 1047 115155 5.72 0 Nucleus NA PE1 8 +NX_O60285 661 74305 8.97 0 Nucleolus;Nucleus;Nucleus;Cytoplasm;Cytoskeleton NA PE1 12 +NX_O60287 2271 254389 6.03 0 Nucleolus;Nucleolus NA PE1 21 +NX_O60290 1169 131654 6.87 0 Mitochondrion;Nucleus NA PE2 7 +NX_O60291 552 60753 5.01 0 Nucleus;Cell membrane;Early endosome;Cytosol NA PE1 16 +NX_O60292 1781 194610 8.57 0 Nucleus speckle;Nucleus membrane;Apical cell membrane Cataract 45 PE1 19 +NX_O60293 1989 226356 8.39 0 Nucleus;Nucleoplasm;Cytoskeleton NA PE1 12 +NX_O60294 686 75602 6.25 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 15 +NX_O60296 914 101419 5.15 0 Nucleoplasm;Cytoplasm;Early endosome;Cytoplasmic vesicle;Mitochondrion;Nucleus NA PE1 2 +NX_O60299 673 71791 7.56 0 Synapse;Postsynaptic density;Cytoskeleton NA PE1 20 +NX_O60303 1618 180918 5.57 0 Nucleus speckle;Cilium axoneme;Cell membrane;Cilium basal body;Cytoskeleton Joubert syndrome 26 PE1 16 +NX_O60304 480 53674 6.84 0 Cytosol;Nucleoplasm;Nucleus NA PE1 16 +NX_O60306 1485 171295 5.96 0 Nucleus;Nucleoplasm;Nucleus NA PE1 15 +NX_O60307 1309 143137 8.24 0 Nucleus speckle NA PE1 19 +NX_O60308 925 104448 7.54 0 Centriole;Centrosome;Spindle pole;Cilium Joubert syndrome 25 PE1 1 +NX_O60309 1634 180621 5.2 1 Membrane NA PE1 17 +NX_O60312 1499 167688 8.7 10 Endoplasmic reticulum membrane;Cell membrane Angelman syndrome PE1 15 +NX_O60313 960 111631 7.87 1 Mitochondrion intermembrane space;Mitochondrion;Mitochondrion inner membrane;Nucleoplasm;Mitochondrion membrane Dominant optic atrophy plus syndrome;Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type;Behr syndrome;Optic atrophy 1 PE1 3 +NX_O60315 1214 136447 5.9 0 Cytosol;Nucleus;Nucleolus;Nucleus Mowat-Wilson syndrome PE1 2 +NX_O60318 1980 218405 5.99 0 Cytoplasm;Cytosol;Nucleoplasm;Nucleus envelope;Nuclear pore complex;Nucleus;Nucleus membrane NA PE1 21 +NX_O60320 539 56544 5.18 4 Membrane;Nucleus NA PE2 15 +NX_O60330 932 100955 4.9 1 Cell membrane NA PE2 5 +NX_O60331 668 73260 5.17 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm;Focal adhesion;Adherens junction;Ruffle membrane;Phagocytic cup;Uropodium;Cell membrane;Endomembrane system Lethal congenital contracture syndrome 3 PE1 19 +NX_O60333 1816 204476 5.42 0 Cytosol;Nucleolus;Cytoplasmic vesicle;Cytoskeleton;Mitochondrion Neuroblastoma 1;Pheochromocytoma;Charcot-Marie-Tooth disease 2A1 PE1 1 +NX_O60336 1514 163818 6.31 0 Nucleolus;Spindle pole;Nucleus;Cytoplasm Nephronophthisis 20 PE1 15 +NX_O60337 910 102545 5.85 14 Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 5 +NX_O60341 852 92903 6.11 0 Cytosol;Nucleoplasm;Nucleus Cleft palate, psychomotor retardation, and distinctive facial features PE1 1 +NX_O60343 1298 146563 6.57 0 Cytoplasm;Cytosol Diabetes mellitus, non-insulin-dependent, 5 PE1 13 +NX_O60344 883 99773 4.98 1 Cytosol;Golgi apparatus membrane;Cytoplasmic granule membrane;Nucleus NA PE1 3 +NX_O60346 1717 184672 5.88 0 Cytoplasm;Membrane;Nucleus;Cell membrane NA PE1 18 +NX_O60347 775 85626 5.56 0 Nucleoplasm;Nucleus speckle NA PE1 10 +NX_O60353 706 79292 8.29 7 Membrane;Cell membrane;Cell surface;Apical cell membrane;Cytoplasmic vesicle membrane;Cell membrane Nail disorder, non-syndromic congenital, 10 PE1 8 +NX_O60356 82 8873 9.98 0 Cytosol;Nucleus;Nucleus NA PE1 16 +NX_O60359 315 35549 9.53 4 Membrane NA PE1 16 +NX_O60361 137 15529 8.76 0 NA NA PE5 12 +NX_O60381 514 57645 5.79 0 Nucleus speckle;Nucleus NA PE1 7 +NX_O60383 454 51444 9.19 0 Secreted NA PE1 5 +NX_O60384 105 11997 8.91 0 NA NA PE5 19 +NX_O60391 1043 112992 9.37 3 Cell membrane;Postsynaptic cell membrane NA PE2 19 +NX_O60393 691 73906 5.79 0 Nucleus Premature ovarian failure 5 PE1 7 +NX_O60397 106 11841 9.57 0 Mitochondrion inner membrane NA PE5 4 +NX_O60403 315 34663 8.71 7 Cell membrane NA PE2 19 +NX_O60404 316 35721 9.22 7 Cell membrane NA PE2 19 +NX_O60412 319 35323 7.99 7 Cell membrane NA PE3 19 +NX_O60422 494 50037 9.9 0 Nucleoplasm;Nucleus NA PE3 19 +NX_O60423 1300 146752 8.18 10 Acrosome membrane;Endoplasmic reticulum membrane NA PE1 19 +NX_O60427 444 51964 8.98 4 Endoplasmic reticulum membrane;Mitochondrion NA PE1 11 +NX_O60431 355 39297 7.14 7 Cell membrane NA PE3 19 +NX_O60437 1756 204747 5.47 0 Nucleoplasm;Cell membrane;Cytoskeleton;Desmosome;Cytosol;Mitochondrion;Nucleus;Cell membrane NA PE1 16 +NX_O60443 496 54555 5.03 0 Cytosol;Cytosol;Cell membrane Deafness, autosomal dominant, 5 PE1 7 +NX_O60447 810 92949 5.78 0 Nucleus;Golgi apparatus;Spindle;Centrosome;Cytoplasmic vesicle NA PE1 1 +NX_O60449 1722 198311 6.22 1 Membrane;Golgi apparatus NA PE1 2 +NX_O60462 931 104859 5.04 1 Cytoplasmic vesicle;Cell membrane;Membrane;Secreted NA PE1 2 +NX_O60469 2012 222260 7.78 1 Synapse;Cytosol;Nucleoplasm;Axon;Secreted;Cell membrane NA PE1 21 +NX_O60476 641 73004 7.17 1 Golgi apparatus;Golgi apparatus membrane NA PE1 1 +NX_O60477 761 88760 9.15 0 Cytoplasm;Cytoskeleton NA PE1 9 +NX_O60478 399 45599 8.95 7 Lysosome membrane NA PE1 1 +NX_O60479 287 31738 8.98 0 Nucleus Amelogenesis imperfecta 4;Trichodentoosseous syndrome PE1 17 +NX_O60481 467 50569 8.89 0 Nucleoplasm;Nucleus;Cytoplasm VACTERL association X-linked with or without hydrocephalus;Heterotaxy, visceral, 1, X-linked;Congenital heart defects, multiple types, 1, X-linked PE1 X +NX_O60486 1568 175742 7.78 1 Mitochondrion;Membrane NA PE1 12 +NX_O60487 215 24484 6.53 1 Cell junction;Membrane NA PE1 11 +NX_O60488 711 79188 8.66 1 Endoplasmic reticulum membrane;Microsome membrane;Peroxisome membrane;Mitochondrion outer membrane;Mitochondrion;Golgi apparatus Mental retardation, X-linked 63;Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis PE1 X +NX_O60493 162 18762 8.71 0 Cytoplasm;Phagosome;Early endosome Microphthalmia, syndromic, 8 PE1 6 +NX_O60494 3623 398736 5.14 0 Lysosome membrane;Apical cell membrane;Endosome;Coated pit;Cell membrane Recessive hereditary megaloblastic anemia 1 PE1 10 +NX_O60496 412 45379 5.78 0 NA NA PE1 8 +NX_O60499 249 28114 4.81 1 Golgi apparatus;Golgi apparatus membrane NA PE1 19 +NX_O60500 1241 134742 5.42 1 Cell membrane Nephrotic syndrome 1 PE1 19 +NX_O60502 916 102915 4.82 0 Cytosol;Nucleus;Cytoplasm NA PE1 10 +NX_O60503 1353 150701 7.07 12 Cytosol;Cell membrane NA PE1 16 +NX_O60504 671 75341 9.48 0 Nucleus;Nucleoplasm;Focal adhesion;Cell junction;Cytoskeleton NA PE1 8 +NX_O60506 623 69603 8.68 0 Cytoplasm;Microsome;Endoplasmic reticulum;Nucleoplasm;Cytosol;Nucleus;Nucleoplasm;Cytoplasm NA PE1 6 +NX_O60507 370 42188 9.21 1 Golgi apparatus membrane;Cytosol NA PE1 7 +NX_O60508 579 65521 6.62 0 Nucleus;Nucleus NA PE1 6 +NX_O60512 393 43928 9.34 1 Golgi stack membrane;Golgi apparatus NA PE1 1 +NX_O60513 344 40041 9.18 1 Golgi apparatus;Golgi stack membrane NA PE1 3 +NX_O60516 100 10873 4.37 0 NA NA PE1 5 +NX_O60518 1105 124714 4.88 0 Cytoplasm;Nucleus;Cytoplasmic vesicle NA PE1 9 +NX_O60519 120 13784 9.93 0 Cytosol;Mitochondrion;Nucleoplasm;Nucleus NA PE1 12 +NX_O60522 2096 236517 5.14 0 Cytoplasm NA PE1 6 +NX_O60524 1076 122954 5.97 0 Cytosol;Nucleus;Nucleus;Nucleoplasm NA PE1 14 +NX_O60542 156 16600 9.54 0 Secreted NA PE2 19 +NX_O60543 219 24687 9.34 0 Lipid droplet;Nucleus NA PE1 18 +NX_O60547 372 41950 6.87 0 NA NA PE1 6 +NX_O60548 495 48748 6.76 0 Nucleus NA PE1 1 +NX_O60551 498 56980 7.23 0 Cell membrane;Cytosol;Golgi apparatus;Membrane;Cytoplasm NA PE1 10 +NX_O60563 726 80685 8.9 0 Nucleus;Nucleoplasm NA PE1 12 +NX_O60565 184 20697 9.53 0 Secreted Polyposis syndrome, mixed hereditary 1 PE1 15 +NX_O60566 1050 119545 5.2 0 Cytoplasm;Cytosol;Kinetochore;Nucleus;Centrosome;Cytoplasm Mosaic variegated aneuploidy syndrome 1;Premature chromatid separation trait PE1 15 +NX_O60568 738 84785 5.69 0 Rough endoplasmic reticulum membrane Lysyl hydroxylase 3 deficiency PE1 7 +NX_O60573 245 28362 8.97 0 Cytosol;Mitochondrion NA PE1 2 +NX_O60575 86 9454 7.57 0 Golgi apparatus;Cytoplasmic vesicle;Nucleus;Secreted NA PE1 9 +NX_O60583 730 81029 9.04 0 Cytosol;Nucleus;Perinuclear region;Nucleoplasm;Cell membrane NA PE1 2 +NX_O60602 858 97834 6.21 1 Golgi apparatus;Membrane;Cytosol;Nucleus Systemic lupus erythematosus 1 PE1 1 +NX_O60603 784 89838 6.17 1 Mitochondrion;Nucleus;Membrane;Phagosome membrane;Membrane raft NA PE1 4 +NX_O60609 400 44511 8.06 0 Cell membrane;Cell membrane;Cytosol NA PE1 5 +NX_O60610 1272 141347 5.31 0 Cell membrane;Ruffle membrane;Cell membrane;Cytoskeleton;Centrosome;Spindle Deafness, autosomal dominant, 1;Seizures, cortical blindness, and microcephaly syndrome PE1 5 +NX_O60613 162 17790 4.96 0 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum lumen;Nucleolus NA PE1 1 +NX_O60635 241 26301 5.12 4 Nucleoplasm;Lysosome membrane;Cytoplasmic vesicle NA PE1 1 +NX_O60636 221 24148 7.98 4 Nucleoplasm;Membrane NA PE1 1 +NX_O60637 253 28018 5.52 4 Nucleoplasm;Golgi apparatus;Membrane NA PE1 15 +NX_O60641 907 92502 4.69 0 Coated pit;Centrosome;Cytosol;Cell membrane NA PE1 6 +NX_O60645 756 86845 5.8 0 Mitochondrion;Golgi apparatus;Nucleoplasm;Midbody;Growth cone;Perinuclear region;Cytoplasm NA PE1 5 +NX_O60656 530 59941 8.08 1 Endoplasmic reticulum membrane;Microsome NA PE1 2 +NX_O60658 829 93304 5.75 0 Golgi apparatus NA PE1 15 +NX_O60662 606 68037 5.14 0 M line;Sarcoplasmic reticulum membrane;Nucleus;Cytoplasm;Ruffle;Cytosol;Cell membrane;Endoplasmic reticulum membrane;Cytoskeleton;Pseudopodium Nemaline myopathy 9 PE1 2 +NX_O60663 402 44917 6.22 0 Nucleus;Nucleus Nail-patella syndrome PE1 9 +NX_O60664 434 47075 5.3 0 Cytoplasm;Lipid droplet;Cytosol;Endosome membrane;Lipid droplet NA PE1 19 +NX_O60667 390 43146 9.78 1 Membrane;Secreted;Nucleus;Cytosol;Focal adhesion NA PE1 1 +NX_O60669 478 52200 9.37 12 Nucleoplasm;Cell membrane;Cell membrane NA PE1 12 +NX_O60671 282 31827 4.73 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA PE1 5 +NX_O60673 3130 352776 8.72 0 Nucleoplasm;Nucleus NA PE1 6 +NX_O60674 1132 130674 6.82 0 Endomembrane system;Focal adhesion;Nucleoplasm;Nucleus;Cytoplasm;Cell membrane Budd-Chiari syndrome;Polycythemia vera;Leukemia, acute myelogenous;Thrombocythemia 3;Myelofibrosis PE1 9 +NX_O60675 156 17523 10.1 0 Nucleoplasm;Nucleus NA PE1 7 +NX_O60676 142 16275 9.05 0 Secreted NA PE1 20 +NX_O60678 531 59876 5.18 0 Cytoplasm NA PE1 11 +NX_O60682 206 22068 9.23 0 Nucleoplasm;Nucleus NA PE1 8 +NX_O60683 326 37069 10.03 0 Peroxisome membrane;Nucleoplasm Peroxisome biogenesis disorder 6A;Peroxisome biogenesis disorder 6B;Peroxisome biogenesis disorder complementation group 7 PE1 1 +NX_O60684 536 60030 4.89 0 Nucleoplasm;Cytosol NA PE1 1 +NX_O60687 465 52972 7.05 0 Cytoskeleton;Secreted;Cytoplasm;Cell surface;Synapse Rolandic epilepsy with speech dyspraxia and mental retardation X-linked PE1 X +NX_O60688 119 13575 8.21 0 Nucleus NA PE2 22 +NX_O60701 494 55024 6.73 0 Nucleoplasm NA PE1 4 +NX_O60704 377 41912 9.22 1 Endoplasmic reticulum;Golgi apparatus membrane NA PE1 22 +NX_O60706 1549 174223 7.05 15 Cytosol;Membrane;Nucleoplasm Atrial fibrillation, familial, 12;Cardiomyopathy, dilated 1O;Hypertrichotic osteochondrodysplasia PE1 12 +NX_O60711 386 43332 5.62 0 Nucleus speckle;Cytosol;Cytoplasm;Focal adhesion;Podosome;Cell membrane;Focal adhesion;Nucleus;Perinuclear region NA PE1 11 +NX_O60716 968 108170 5.86 0 Cell membrane;Cell membrane;Cytoplasm;Nucleus NA PE1 11 +NX_O60721 1099 121374 4.9 11 Cytoskeleton;Membrane Night blindness, congenital stationary, 1D PE1 15 +NX_O60725 284 31938 8.13 8 Endoplasmic reticulum membrane NA PE1 1 +NX_O60729 498 56802 9.19 0 Nucleoplasm;Nucleolus NA PE1 9 +NX_O60732 1142 123643 4.23 0 Cytosol;Nucleoplasm NA PE1 X +NX_O60733 806 89903 6.86 0 Membrane;Cytoplasm;Cytosol;Microtubule organizing center Neurodegeneration with brain iron accumulation 2B;Neurodegeneration with brain iron accumulation 2A;Parkinson disease 14 PE1 22 +NX_O60739 113 12824 6.82 0 NA NA PE1 3 +NX_O60741 890 98796 8.63 6 Cell membrane Epileptic encephalopathy, early infantile, 24 PE1 5 +NX_O60749 519 58471 5.04 0 Lamellipodium;Early endosome membrane;Endosome;Lysosome NA PE1 5 +NX_O60755 368 39573 10.23 7 Cell membrane NA PE1 22 +NX_O60756 84 9784 10.67 0 NA NA PE5 9 +NX_O60759 359 40010 6.55 0 Cytoplasm;Early endosome;Nucleoplasm;Cytosol NA PE1 2 +NX_O60760 199 23344 5.54 0 Cytoplasm NA PE1 4 +NX_O60762 260 29634 9.57 0 Endoplasmic reticulum Congenital disorder of glycosylation 1E PE1 20 +NX_O60763 962 107895 4.85 0 Golgi apparatus;Cytosol;Golgi apparatus membrane;Nucleolus;Golgi apparatus NA PE1 4 +NX_O60765 605 69237 9.65 0 Nucleolus;Nucleus;Cytosol;Nucleus NA PE1 5 +NX_O60774 539 61291 5.99 1 Microsome membrane;Endoplasmic reticulum membrane NA PE5 1 +NX_O60779 497 55400 6.35 12 Cell membrane;Cytosol Thiamine-responsive megaloblastic anemia syndrome PE1 1 +NX_O60783 128 15139 11.42 0 Mitochondrion;Mitochondrion;Nucleus membrane NA PE1 1 +NX_O60784 492 53818 4.59 0 Microtubule organizing center;Cell membrane;Membrane;Cytoplasm;Cytosol NA PE1 22 +NX_O60806 448 48238 6.66 0 Nucleus;Nucleus speckle ACTH deficiency, isolated PE1 1 +NX_O60809 474 55211 8.71 0 NA NA PE2 1 +NX_O60810 478 55439 8.69 0 NA NA PE2 1 +NX_O60811 474 54872 8.12 0 NA NA PE2 1 +NX_O60812 293 32142 4.93 0 Nucleus NA PE1 1 +NX_O60813 436 50598 8.83 0 NA NA PE2 1 +NX_O60814 126 13890 10.31 0 Nucleus;Chromosome NA PE1 6 +NX_O60825 505 58477 8.61 0 Nucleus NA PE1 1 +NX_O60826 627 70756 6.3 0 Cytosol;Nucleoplasm;Endosome Ritscher-Schinzel syndrome 2 PE1 X +NX_O60828 265 30472 5.92 0 Nucleus;Nucleus speckle;Nucleus speckle;Cytoplasmic granule Renpenning syndrome 1 PE1 X +NX_O60829 102 11153 4.71 0 Golgi apparatus;Cytoplasmic vesicle NA PE1 X +NX_O60830 172 18273 9.21 3 Cytoskeleton;Mitochondrion inner membrane;Mitochondrion NA PE1 X +NX_O60831 178 19258 9.41 4 Endosome membrane;Endoplasmic reticulum;Cytoplasmic vesicle NA PE1 X +NX_O60832 514 57674 9.46 0 Nucleus;Nucleus;Nucleolus;Cytoplasm;Cajal body;Nucleolus Dyskeratosis congenita, X-linked;Hoyeraal-Hreidarsson syndrome PE1 X +NX_O60840 1977 220678 5.76 24 Membrane Cone-rod dystrophy, X-linked 3;Night blindness, congenital stationary, 2A;Aaland island eye disease PE1 X +NX_O60841 1220 138827 5.39 0 Cytoplasm;Cytosol;Cytoplasm;Cell membrane NA PE1 2 +NX_O60844 167 18147 9.43 0 Extracellular matrix;Cytoplasmic vesicle lumen;Golgi apparatus lumen NA PE1 16 +NX_O60858 407 46988 5.75 1 Endoplasmic reticulum membrane NA PE1 13 +NX_O60861 476 54371 6.91 0 Focal adhesion;Cytoskeleton;Cytoplasm;Cell membrane NA PE1 17 +NX_O60869 148 16369 9.95 0 Cytosol;Nucleus;Nucleus;Cytoplasm NA PE1 9 +NX_O60870 393 45374 9.07 0 Nucleus;Nucleus;Cytoplasm NA PE1 10 +NX_O60879 1101 125569 6.2 0 Cytoplasmic vesicle;Endoplasmic reticulum;Early endosome;Cytosol;Nucleolus Premature ovarian failure 2A PE1 X +NX_O60880 128 14187 8.74 0 Cytoplasm Lymphoproliferative syndrome, X-linked, 1 PE1 X +NX_O60882 483 54387 8.92 0 Extracellular matrix Amelogenesis imperfecta, hypomaturation type, 2A2 PE1 11 +NX_O60883 481 52771 7.37 7 Cell membrane NA PE1 1 +NX_O60884 412 45746 6.06 0 Nucleolus;Membrane;Cytoskeleton;Cytosol NA PE1 16 +NX_O60885 1362 152219 9.23 0 Nucleoplasm;Chromosome;Nucleus NA PE1 19 +NX_O60888 179 19116 5.42 0 Focal adhesion;Cell membrane NA PE1 6 +NX_O60890 802 91641 8.08 0 Dendrite;Cell membrane;Cytoplasm;Dendritic spine;Synapse;Nucleus;Axon Mental retardation, X-linked, syndromic, OPHN1-related PE1 X +NX_O60894 148 16988 8.55 1 Nucleoplasm;Nucleus membrane;Membrane NA PE1 2 +NX_O60895 175 19608 5.49 1 Cytoplasmic vesicle;Membrane NA PE1 17 +NX_O60896 148 16518 5.32 1 Cell membrane;Membrane NA PE1 7 +NX_O60902 331 34953 8.99 0 Nucleus NA PE1 3 +NX_O60906 423 47646 6.49 2 Cytoplasmic vesicle;Cell membrane;Cell junction;Membrane NA PE1 6 +NX_O60907 577 62496 6.08 0 Nucleolus;Nucleus;Nucleus NA PE1 X +NX_O60909 372 41972 9.47 1 Cytoplasmic vesicle;Golgi apparatus;Golgi stack membrane NA PE1 1 +NX_O60911 334 37329 8.98 0 Cytosol;Nucleolus;Lysosome;Nucleus;Cell membrane NA PE1 9 +NX_O60921 280 31691 6.37 0 Cytosol;Nucleus NA PE1 7 +NX_O60925 122 14210 6.32 0 Cytoplasm;Cytosol;Nucleolus;Cell membrane NA PE1 5 +NX_O60927 126 13952 6.52 0 Cytoplasmic vesicle;Nucleus NA PE1 6 +NX_O60928 360 40530 5.84 2 Membrane Leber congenital amaurosis 16;Snowflake vitreoretinal degeneration PE1 2 +NX_O60930 286 32064 9.28 0 Cytoplasm Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 PE1 2 +NX_O60931 367 41738 9.12 7 Cytoplasmic vesicle;Cell membrane;Lysosome membrane;Melanosome;Cytoskeleton Cystinosis, nephropathic type;Cystinosis, adult, non-nephropathic type;Cystinosis, late-onset juvenile or adolescent nephropathic type PE1 17 +NX_O60934 754 84959 6.5 0 Nucleoplasm;Golgi apparatus;Nucleus;Telomere;PML body Breast cancer;Aplastic anemia;Nijmegen breakage syndrome PE1 8 +NX_O60936 208 22629 4.11 0 Cytosol;Nucleus;Cytoplasm;Sarcoplasmic reticulum;Membrane;Mitochondrion;Nucleolus Myoclonus, familial cortical PE1 16 +NX_O60938 352 40509 7.11 0 Extracellular matrix Cornea plana 2, autosomal recessive PE1 12 +NX_O60939 215 24326 5.98 1 Membrane Atrial fibrillation, familial, 14 PE1 11 +NX_O60941 627 71356 8.11 0 Mitochondrion;Cytoplasm NA PE1 2 +NX_O60942 597 68557 8.43 0 Nucleoplasm;Nucleus NA PE1 6 +NX_O71037 699 79252 9.2 1 Cell membrane;Cell membrane;Virion NA PE1 19 +NX_O75015 233 26216 6.22 0 Cell membrane;Secreted NA PE1 1 +NX_O75019 489 53275 7.97 1 Membrane NA PE2 19 +NX_O75022 631 69386 6.45 1 Cell membrane NA PE1 19 +NX_O75023 590 64126 6.92 1 Membrane NA PE1 19 +NX_O75027 752 82641 9.37 6 Mitochondrion inner membrane;Mitochondrion Anemia, sideroblastic, spinocerebellar ataxia PE1 X +NX_O75030 526 58795 5.93 0 Nucleus Waardenburg syndrome 2, with ocular albinism, autosomal recessive;Waardenburg syndrome 2A;Tietz albinism-deafness syndrome;Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;Melanoma, cutaneous malignant 8 PE1 3 +NX_O75031 334 37645 5.43 0 Nucleus;Cytosol;Cytoplasm NA PE1 21 +NX_O75037 1637 182662 6.7 0 Cytoskeleton;Dendrite;Growth cone;Axon;Cytoplasmic vesicle NA PE1 1 +NX_O75038 1416 154668 8.04 0 Cell membrane;Cytoplasm NA PE1 1 +NX_O75044 1071 120881 6.25 0 Nucleoplasm;Cytosol;Cell membrane;Dendritic spine;Postsynaptic density;Postsynaptic cell membrane;Lamellipodium;Phagosome;Nucleus;Cytoplasm NA PE1 1 +NX_O75051 1894 211104 6.05 1 Cell membrane NA PE1 1 +NX_O75052 506 56150 5.89 0 Cytoplasmic vesicle;Nucleus NA PE1 1 +NX_O75054 1194 135196 5.75 1 Nucleoplasm;Membrane;Cytosol Lacrimal duct defect PE1 1 +NX_O75056 442 45497 4.61 1 Mitochondrion;Membrane;Nucleoplasm NA PE1 1 +NX_O75061 913 99997 6.82 0 Cell membrane;Cytosol;Nucleoplasm Parkinson disease 19B, early-onset;Parkinson disease 19A, juvenile-onset PE1 1 +NX_O75063 409 46432 6.4 1 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus NA PE1 1 +NX_O75064 1496 163847 6.85 0 Nucleus;Golgi apparatus;Golgi apparatus NA PE1 1 +NX_O75069 709 77449 6.34 2 Membrane;Endoplasmic reticulum NA PE1 1 +NX_O75071 495 55031 5.98 0 Nucleolus;Golgi apparatus;Cytosol NA PE1 1 +NX_O75072 461 53724 8.63 1 Golgi apparatus membrane Cardiomyopathy, dilated 1X;Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4;Muscular dystrophy-dystroglycanopathy limb-girdle C4;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 PE1 9 +NX_O75074 770 82884 5.83 1 Membrane;Coated pit NA PE1 19 +NX_O75077 832 91926 7.85 1 Cell membrane;Secreted NA PE1 2 +NX_O75078 769 83418 6.91 1 Membrane NA PE1 17 +NX_O75081 653 71192 8.5 0 Nucleoplasm;Nucleolus;Golgi apparatus membrane;Nucleoplasm NA PE1 16 +NX_O75083 606 66194 6.17 0 Cytoplasm;Cytosol;Cell junction;Podosome;Cytoskeleton NA PE1 4 +NX_O75084 574 63620 8.12 7 Cell membrane;Nucleoplasm;Cell membrane;Endosome membrane NA PE1 2 +NX_O75093 1534 167926 6.14 0 Secreted NA PE1 10 +NX_O75094 1523 167713 7.99 0 Cell junction;Secreted NA PE1 5 +NX_O75095 1541 161185 5.94 0 Cytoplasm;Cytoskeleton;Secreted;Cytoskeleton NA PE1 1 +NX_O75096 1905 212045 5.06 1 Mitochondrion;Cell membrane;Nucleus;Nucleolus Myasthenic syndrome, congenital, 17;Cenani-Lenz syndactyly syndrome;Sclerosteosis 2 PE1 11 +NX_O75106 756 83673 6.54 0 Cell membrane;Cytoplasm NA PE1 17 +NX_O75110 1047 118583 8.01 10 Early endosome membrane;Recycling endosome;trans-Golgi network membrane NA PE1 20 +NX_O75112 727 77135 8.47 0 Cytosol;Focal adhesion;Pseudopodium;Nucleoplasm;Cytoskeleton;Z line;Perinuclear region Left ventricular non-compaction 3;Cardiomyopathy, dilated 1C, with or without left ventricular non-compaction;Myopathy, myofibrillar, 4 PE1 10 +NX_O75113 896 100379 5.24 0 Nucleolus;Nucleolus;PML body NA PE1 16 +NX_O75116 1388 160900 5.75 0 Cytoplasm;Cytosol;Cell membrane;Nucleus;Centrosome NA PE1 2 +NX_O75121 409 45380 5.13 1 Cell membrane;Cell membrane;Nucleus;Cytoplasm NA PE1 4 +NX_O75122 1294 141133 8.68 0 Cytosol;Golgi apparatus;Centrosome;Kinetochore;Spindle;Golgi apparatus;trans-Golgi network;Cell membrane;Ruffle membrane;Cytoskeleton NA PE1 3 +NX_O75123 536 61392 8.52 0 Nucleus;Nucleus NA PE1 8 +NX_O75127 700 78856 8.81 0 Mitochondrion;Mitochondrion;Mitochondrion matrix NA PE1 7 +NX_O75128 1261 135617 7.66 0 Ruffle;Cytoskeleton;Cytoplasm;Cell junction;Cell membrane;Cell membrane NA PE1 7 +NX_O75129 1339 148243 5.66 2 Nucleoplasm;Cytosol;Membrane;Perikaryon;Cell cortex;Early endosome;Late endosome;Clathrin-coated vesicle;Cytoplasmic vesicle NA PE1 9 +NX_O75131 537 60131 5.6 0 Cytosol;Mitochondrion;Nucleus;Cytoplasm;Cell membrane;Cell junction;Focal adhesion;Nucleus;Nucleolus NA PE1 8 +NX_O75132 1171 130322 6.38 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 22 +NX_O75140 1603 181264 6.27 0 Cytosol;Golgi apparatus;Lysosome membrane;Perinuclear region Epilepsy, familial focal, with variable foci 1 PE1 22 +NX_O75143 517 56572 4.98 0 Nucleoplasm;Cell membrane;Cytosol;Cytosol;Preautophagosomal structure NA PE1 11 +NX_O75144 302 33349 5.15 1 Cell membrane;Mitochondrion NA PE1 21 +NX_O75145 1194 133496 5.53 0 Nucleolus;Acrosome;Cytoplasm;Cytoplasmic vesicle NA PE1 19 +NX_O75146 1068 119388 6.22 0 Cytosol;Clathrin-coated vesicle membrane;Cell membrane;Cytoplasmic vesicle;Perinuclear region;Endomembrane system NA PE1 12 +NX_O75147 1896 206947 5.42 0 Centrosome;Cytoplasm;Centrosome;Perinuclear region;Golgi apparatus 3M syndrome 2 PE1 2 +NX_O75150 1001 113650 5.93 0 Nucleus;Nucleoplasm NA PE1 16 +NX_O75151 1096 120775 9.25 0 Nucleus;Kinetochore;Nucleolus;Cytosol;Nucleolus NA PE1 9 +NX_O75152 810 89131 8.62 0 Nucleus speckle NA PE1 1 +NX_O75153 1309 146670 5.75 0 Cytoplasm;Cytoplasmic granule;Nucleus;Cytoplasmic vesicle NA PE1 17 +NX_O75154 756 82440 4.44 0 Microtubule organizing center;Recycling endosome membrane;Centrosome;Cleavage furrow;Midbody;Cytoskeleton;Cytoplasmic vesicle NA PE1 16 +NX_O75155 1236 135256 5.44 0 Nucleus;Cytosol;Nucleus NA PE1 3 +NX_O75157 780 79228 4.9 0 Cytosol NA PE1 3 +NX_O75159 536 61246 8.87 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 2 +NX_O75161 1426 157598 8.4 0 Cilium basal body;Centrosome;Tight junction;Nucleus Senior-Loken syndrome 4;Nephronophthisis 4 PE1 1 +NX_O75164 1064 120662 5.61 0 Nucleus;Nucleolus NA PE1 1 +NX_O75165 2243 254415 6.31 0 Early endosome membrane;Cytoplasmic vesicle;Early endosome;Endosome membrane;Cytosol Parkinson disease PE1 3 +NX_O75167 634 69700 8.14 0 Membrane NA PE1 6 +NX_O75170 966 104942 4.74 0 Cytoplasm;Cytoplasmic vesicle;Cytosol NA PE1 22 +NX_O75173 837 90197 8.18 0 Nucleus speckle;Extracellular matrix NA PE1 1 +NX_O75175 753 81872 5.82 0 Cytosol;P-body;Nucleus;Cytoplasm NA PE1 19 +NX_O75177 396 42990 5.96 0 Nucleoplasm;Cytosol;Nucleus;Kinetochore NA PE1 20 +NX_O75179 2603 274258 6.07 0 Nucleus membrane;Nucleus;Cytoplasm;Nucleus NA PE1 4 +NX_O75182 1162 133066 6.48 0 Cell membrane;Nucleoplasm;Nucleus NA PE1 19 +NX_O75185 946 103187 5.53 10 Cell membrane;Focal adhesion;Membrane NA PE1 16 +NX_O75190 326 36087 9.17 0 Nucleus;Cytoplasm;Nucleoplasm;Perinuclear region;Nucleus;Z line Limb-girdle muscular dystrophy 1E PE1 7 +NX_O75191 536 58382 5.55 0 Nucleus speckle NA PE1 3 +NX_O75192 247 28353 9.68 2 Peroxisome membrane NA PE1 15 +NX_O75197 1615 179145 5.11 1 Endoplasmic reticulum;Membrane Vitreoretinopathy, exudative 1;Osteopetrosis, autosomal dominant 1;Vitreoretinopathy, exudative 4;High bone mass trait;Van Buchem disease 2;Osteoporosis-pseudoglioma syndrome;Osteoporosis;Endosteal hyperostosis, Worth type PE1 11 +NX_O75200 414 47714 10.35 0 Secreted NA PE2 16 +NX_O75204 238 25842 6.23 3 Cell membrane;Cytoplasm Pheochromocytoma PE1 2 +NX_O75208 318 35509 5.61 0 Cytosol;Mitochondrion Coenzyme Q10 deficiency, primary, 5 PE1 16 +NX_O75223 188 21008 5.07 0 Cell membrane;Cytoplasm NA PE1 7 +NX_O75251 213 23564 10.02 0 Mitochondrion Leigh syndrome;Mitochondrial complex I deficiency PE1 19 +NX_O75264 130 14964 5.25 1 Nucleoplasm;Cytosol;Membrane NA PE1 19 +NX_O75290 641 74531 8.96 0 Nucleus NA PE1 19 +NX_O75293 160 17818 4.33 0 Nucleoplasm;Cytosol NA PE1 19 +NX_O75298 545 59264 5.19 2 Endoplasmic reticulum membrane;Nucleus speckle Spastic paraplegia 12, autosomal dominant PE1 19 +NX_O75306 463 52546 7.21 0 Mitochondrion inner membrane;Mitochondrion;Nucleoplasm Mitochondrial complex I deficiency PE1 1 +NX_O75309 829 89923 4.82 1 Cell membrane NA PE1 16 +NX_O75310 529 61038 9.06 1 Microsome membrane;Endoplasmic reticulum membrane NA PE1 4 +NX_O75311 464 53800 8.6 4 Perikaryon;Dendrite;Postsynaptic cell membrane;Synapse;Cell membrane NA PE1 4 +NX_O75312 459 50925 4.66 0 Nucleus;Growth cone;Axon;Nucleolus;Gem;Cajal body;Perinuclear region;Cytoplasm;Cytoplasmic vesicle NA PE1 11 +NX_O75317 370 42858 6.16 0 NA NA PE1 13 +NX_O75319 330 38939 9.47 0 Cytoskeleton;Nucleus;Nucleolus;Nucleus;Nucleus speckle NA PE1 2 +NX_O75323 286 33743 9.42 0 Cytoplasm;Mitochondrion outer membrane;Mitochondrion NA PE1 7 +NX_O75324 88 9497 5.19 1 Cytosol;Mitochondrion outer membrane NA PE1 16 +NX_O75325 713 78859 7.06 1 Endoplasmic reticulum;Membrane NA PE1 1 +NX_O75326 666 74824 7.57 0 Cytoplasmic vesicle;Cell membrane NA PE1 15 +NX_O75330 724 84100 5.68 0 Cytosol;Cell surface;Cytoplasm;Cytoskeleton;Centrosome NA PE1 5 +NX_O75333 385 42341 9.33 0 Nucleus NA PE2 11 +NX_O75334 1257 143291 5.8 0 Cytoplasm;Cell surface NA PE1 12 +NX_O75335 1185 134404 6.28 0 Cytoplasm;Cell surface NA PE1 1 +NX_O75339 1184 132565 8.76 0 Extracellular matrix Intervertebral disc disease PE1 15 +NX_O75340 191 21868 5.16 0 Cytosol;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Cytoplasm;Nucleus;Endosome NA PE1 5 +NX_O75342 701 80356 7.57 0 Cytoplasm;Cytosol Ichthyosis, congenital, autosomal recessive 2 PE1 17 +NX_O75343 617 70368 8.84 0 Cytoplasm NA PE5 13 +NX_O75344 327 37214 6.48 0 Nucleus;Chromosome;Cytosol NA PE1 7 +NX_O75346 499 57602 9.32 0 Nucleus NA PE2 19 +NX_O75347 108 12855 5.25 0 Cytoplasm;Cytoskeleton;Nucleolus;Cytoskeleton NA PE1 5 +NX_O75348 118 13758 8.93 0 Nucleolus;Nucleus NA PE1 9 +NX_O75351 444 49302 6.75 0 Prevacuolar compartment membrane;Late endosome membrane;Cytoplasmic vesicle;Cytoskeleton NA PE1 18 +NX_O75352 247 26638 9.13 7 Membrane;Endoplasmic reticulum;Mitochondrion Congenital disorder of glycosylation 1F PE1 17 +NX_O75354 484 53246 9.32 1 Golgi apparatus;Golgi apparatus;Golgi apparatus membrane;Secreted NA PE1 20 +NX_O75355 529 59105 5.98 2 Cytosol;Membrane NA PE1 3 +NX_O75356 428 47517 5.92 0 Endoplasmic reticulum;Cytosol;Secreted NA PE1 14 +NX_O75360 226 24984 10.36 0 Nucleus Pituitary hormone deficiency, combined, 2 PE1 5 +NX_O75362 1048 115272 8.78 0 Nucleus speckle;Nucleus NA PE1 20 +NX_O75363 584 61709 4.99 0 Cytoplasm;Cytoplasmic vesicle NA PE1 20 +NX_O75364 302 31832 9.28 0 Nucleus Cataract 11, multiple types;Anterior segment dysgenesis 1 PE1 10 +NX_O75365 173 19535 9.35 0 Cell membrane;Early endosome NA PE1 8 +NX_O75366 819 92027 5.47 0 Cytoskeleton;Cell projection;Axon NA PE1 12 +NX_O75367 372 39617 9.8 0 Chromosome;Nucleus;Nucleus NA PE1 5 +NX_O75368 114 12774 5.22 0 Cytoplasmic vesicle NA PE1 X +NX_O75369 2602 278164 5.47 0 Cell membrane;Golgi apparatus;Cytosol;Cytoskeleton;Cytoskeleton;Cell cortex;Z line Spondylocarpotarsal synostosis syndrome;Boomerang dysplasia;Larsen syndrome;Atelosteogenesis 1;Atelosteogenesis 3 PE1 3 +NX_O75373 536 61931 9.41 0 Nucleus NA PE2 19 +NX_O75376 2440 270210 6.66 0 Nucleus NA PE1 17 +NX_O75379 141 16397 6.75 1 Golgi apparatus;trans-Golgi network membrane NA PE1 1 +NX_O75380 124 13712 8.58 0 Mitochondrion inner membrane Mitochondrial complex I deficiency PE1 5 +NX_O75381 377 41237 4.89 0 Nucleolus;Peroxisome membrane;Peroxisome Peroxisome biogenesis disorder 13A;Peroxisome biogenesis disorder complementation group K PE1 1 +NX_O75382 744 80830 8.03 0 Mitochondrion;Cytoplasm;Early endosome;trans-Golgi network;Dendrite NA PE1 11 +NX_O75385 1050 112631 9.03 0 Preautophagosomal structure;Cytosol;Cytosol NA PE1 12 +NX_O75386 442 49642 7.63 0 Nucleolus;Nucleus;Cell membrane;Nucleus;Cell membrane;Cilium;Cytoplasm;Secreted NA PE1 12 +NX_O75387 559 61477 7.85 12 Golgi apparatus;Cytoplasmic vesicle;Membrane;Cell membrane NA PE1 11 +NX_O75388 356 40087 9.35 7 Cell membrane NA PE2 19 +NX_O75390 466 51712 8.45 0 Mitochondrion;Mitochondrion matrix NA PE1 12 +NX_O75391 227 26034 7.69 0 Nucleus;Nucleus NA PE1 17 +NX_O75394 65 7619 10.81 0 Mitochondrion NA PE1 2 +NX_O75396 215 24593 6.43 1 trans-Golgi network membrane;Melanosome;Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;cis-Golgi network membrane NA PE1 1 +NX_O75398 565 59327 5.21 0 Cytoplasm;Nucleolus;Nucleus;Secreted;Nucleus Mental retardation, autosomal dominant 24;Dyskinesia, seizures, and intellectual developmental disorder PE1 11 +NX_O75400 957 108805 7.18 0 Nucleus;Nucleus speckle;Nucleus matrix;Nucleus speckle NA PE1 2 +NX_O75409 117 13442 4.93 0 NA NA PE1 X +NX_O75410 805 87794 4.82 0 Cytoplasm;Nucleus;Centrosome;Midbody;Membrane;Cytoskeleton;Cytoskeleton NA PE1 8 +NX_O75414 186 21142 8.51 0 Cytoplasmic vesicle NA PE1 3 +NX_O75417 2590 289619 7.07 0 Nucleus;Nucleus;Chromosome;Cytosol;Golgi apparatus Breast cancer PE1 3 +NX_O75419 566 65569 5.31 0 Nucleoplasm;Cytosol;Centrosome;Nucleus;Cytoplasm NA PE1 22 +NX_O75420 1035 114601 5.29 0 Cytoplasmic vesicle;Cytoskeleton NA PE1 7 +NX_O75425 235 25519 9.29 2 Nucleoplasm;Cytosol;Membrane NA PE1 7 +NX_O75426 580 64889 9.01 0 NA NA PE1 7 +NX_O75427 683 73450 8.55 0 Nucleoplasm;Focal adhesion;Cytosol NA PE1 7 +NX_O75431 263 29763 5.9 0 Mitochondrion outer membrane;Mitochondrion;Mitochondrion;Nucleolus NA PE1 2 +NX_O75436 327 38170 6.13 0 Golgi apparatus;Cytoplasm;Cell membrane;Endosome;Lysosome;Cytoplasm;Endosome membrane;Early endosome NA PE1 10 +NX_O75437 659 77160 9.4 0 Nucleus NA PE1 19 +NX_O75438 58 6961 9.03 1 Cytoplasm;Nucleus speckle;Mitochondrion;Mitochondrion inner membrane NA PE1 14 +NX_O75439 489 54366 6.38 0 Mitochondrion matrix;Mitochondrion NA PE1 7 +NX_O75443 2155 239527 5.23 0 Cell membrane;Extracellular matrix Deafness, autosomal recessive, 21;Deafness, autosomal dominant, 12 PE1 11 +NX_O75444 373 38492 6.44 0 Nucleus Cataract 21, multiple types;Ayme-Gripp syndrome PE1 16 +NX_O75445 5202 575600 6.4 1 Stereocilium membrane;Secreted Retinitis pigmentosa 39;Usher syndrome 2A PE1 1 +NX_O75446 220 23306 9.28 0 Nucleoplasm;Nucleus NA PE1 4 +NX_O75448 989 110305 6.51 0 Nucleus NA PE1 17 +NX_O75449 491 55965 6.47 0 Cytoplasm;Cell membrane;Midbody;Centrosome;Spindle pole;Cytoplasm;Microtubule organizing center;Nucleus;Spindle NA PE1 6 +NX_O75452 317 35673 8.83 1 Microsome membrane;Endoplasmic reticulum membrane NA PE1 12 +NX_O75459 146 16150 4.15 0 Nucleolus;Nucleus;Mitochondrion NA PE1 X +NX_O75460 977 109735 5.98 1 Endoplasmic reticulum membrane NA PE1 17 +NX_O75461 281 31844 5.35 0 Nucleolus;Nucleus;Nucleus NA PE1 2 +NX_O75462 422 46302 9.3 0 Secreted Cold-induced sweating syndrome 1 PE1 19 +NX_O75467 553 61104 9.69 0 Nucleus membrane;Nucleus;Cytosol;Nucleus NA PE1 19 +NX_O75469 434 49762 8.7 0 Nucleoplasm;Nucleus NA PE1 3 +NX_O75473 907 99998 6.12 7 Cell membrane;trans-Golgi network membrane NA PE1 12 +NX_O75474 233 24051 5.4 0 Nucleus;Mitochondrion NA PE2 10 +NX_O75475 530 60103 9.15 0 Nucleoplasm;Nucleus;Nucleus NA PE1 9 +NX_O75477 346 38926 7.67 1 Endoplasmic reticulum;Endoplasmic reticulum membrane Spastic paraplegia 62, autosomal recessive PE1 10 +NX_O75478 443 51506 6.45 0 Nucleus;Nucleus speckle;Chromosome NA PE1 17 +NX_O75486 399 44362 8.69 0 Nucleus;Nucleoplasm NA PE1 6 +NX_O75487 556 62412 6.26 0 Extracellular space;Cell membrane;Cytoplasmic vesicle NA PE1 X +NX_O75489 264 30242 6.98 0 Mitochondrion;Mitochondrion inner membrane;Nucleus NA PE1 11 +NX_O75493 328 36238 9.78 0 Cytoskeleton;Cytoplasmic vesicle;Secreted NA PE1 19 +NX_O75494 262 31301 11.26 0 Nucleoplasm;Nucleus speckle;Cytoplasm NA PE1 1 +NX_O75496 209 23565 4.93 0 Cytoplasm;Nucleus;Nucleoplasm;Nucleus Meier-Gorlin syndrome 6 PE1 6 +NX_O75503 358 41497 7.04 1 Membrane;Lysosome Ceroid lipofuscinosis, neuronal, 5 PE1 13 +NX_O75506 76 8544 4.17 0 Nucleus NA PE1 16 +NX_O75508 207 21993 8.22 4 Tight junction;Cell membrane NA PE1 3 +NX_O75509 655 71845 8.09 1 Cell membrane NA PE1 6 +NX_O75521 394 43585 9.13 0 Peroxisome;Peroxisome;Mitochondrion;Peroxisome matrix NA PE1 6 +NX_O75525 346 38800 7.04 0 Nucleus;Nucleoplasm NA PE1 8 +NX_O75526 392 42814 10.33 0 Nucleus NA PE1 11 +NX_O75528 432 48902 5.9 0 Nucleus;Nucleus;Nucleoplasm;Cytoplasm NA PE1 3 +NX_O75529 589 66155 5.55 0 Cytosol;Nucleus speckle;Nucleus NA PE1 1 +NX_O75530 441 50198 6.57 0 Nucleus;Nucleoplasm;Nucleus;Chromosome Cohen-Gibson syndrome PE1 11 +NX_O75531 89 10059 5.81 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm;Chromosome;Nucleus envelope Nestor-Guillermo progeria syndrome PE1 11 +NX_O75533 1304 145830 6.65 0 Nucleus;Nucleus speckle;Nucleus;Nucleus speckle NA PE1 2 +NX_O75534 798 88885 5.88 0 Cytosol;Cytoplasm;Cytoplasm NA PE1 1 +NX_O75541 412 46794 6.14 0 Nucleus speckle;Nucleus;Nucleoplasm NA PE1 16 +NX_O75553 588 63775 4.88 0 Cytoplasmic vesicle Spinocerebellar ataxia 37 PE1 1 +NX_O75554 376 42507 5.45 0 Cell membrane;Nucleoplasm;Cytoplasmic vesicle;Nucleus speckle NA PE1 13 +NX_O75556 95 10884 5.48 0 NA NA PE1 11 +NX_O75558 287 33196 6.11 0 Membrane;trans-Golgi network membrane;Nucleus;Mitochondrion Familial hemophagocytic lymphohistiocytosis 4 PE1 6 +NX_O75563 359 41217 4.54 0 Nucleoplasm;Cytosol;Cytoplasm NA PE1 7 +NX_O75564 520 57402 8.42 0 Nucleus;Nucleus;Nucleus;Nucleolus NA PE1 8 +NX_O75569 313 34404 8.68 0 Cytoplasm;Cytosol;Nucleoplasm;Cytoplasm;Perinuclear region Dystonia 16 PE1 2 +NX_O75570 445 52306 8.75 0 Mitochondrion NA PE1 13 +NX_O75575 148 16871 5.29 0 Nucleus;Nucleus;Cell membrane NA PE1 7 +NX_O75578 1167 127602 6.21 1 Endoplasmic reticulum;Membrane NA PE1 1 +NX_O75581 1613 180429 5.12 1 Endoplasmic reticulum;Cell membrane;Membrane raft Coronary artery disease, autosomal dominant, 2;Tooth agenesis, selective, 7 PE1 12 +NX_O75582 802 89865 6.63 0 Cytoplasm;Nucleus;Nucleoplasm NA PE1 14 +NX_O75586 246 28425 8.71 0 Nucleoplasm;Nucleus NA PE1 14 +NX_O75592 4640 510084 6.63 0 Nucleus;Cytosol NA PE1 13 +NX_O75593 365 39257 9.6 0 Nucleus NA PE1 8 +NX_O75594 196 21731 8.92 0 Secreted;Cytoplasmic granule NA PE1 19 +NX_O75596 197 22233 9.07 0 Secreted NA PE1 16 +NX_O75600 419 45285 8.3 0 Mitochondrion;Nucleoplasm;Mitochondrion;Nucleus NA PE1 22 +NX_O75602 509 55476 6.37 0 Flagellum;Cytoskeleton;Cytoplasm;Cytoskeleton NA PE1 10 +NX_O75603 506 56610 7.14 0 Nucleus Hyperparathyroidism 4;Hypoparathyroidism, familial isolated PE1 6 +NX_O75604 605 68072 9.15 0 Perinuclear region;Cytoplasm;Nucleus;Cell membrane;Cytosol;Membrane NA PE1 11 +NX_O75607 178 19344 4.55 0 Cytosol;Cytoskeleton;Nucleolus;Nucleus NA PE1 10 +NX_O75608 230 24670 6.29 0 Cytoplasm NA PE1 8 +NX_O75610 366 40880 8.6 0 Secreted NA PE1 1 +NX_O75616 437 48350 9.05 0 Cytosol;Mitochondrion inner membrane;Mitochondrion matrix;Mitochondrion Perrault syndrome 6 PE1 17 +NX_O75618 318 36794 9.07 0 Nucleus;Cytoplasm;Nucleolus NA PE1 1 +NX_O75626 825 91771 8.76 0 Nucleus;Nucleolus;Nucleus;Cytoplasm NA PE1 6 +NX_O75628 298 32947 9.02 0 NA NA PE1 20 +NX_O75629 220 24075 7.06 0 Cytoplasmic vesicle;Cytoskeleton;Secreted NA PE1 1 +NX_O75631 287 30670 4.69 1 Nucleus membrane;Nucleus;Endoplasmic reticulum membrane NA PE1 22 +NX_O75635 380 42905 6.34 0 Endoplasmic reticulum;Mitochondrion;Cytoplasm Keratoderma, palmoplantar, Nagashima type PE1 18 +NX_O75636 299 32903 6.2 0 Secreted Ficolin 3 deficiency PE1 1 +NX_O75638 210 21061 10.02 0 Centrosome NA PE1 X +NX_O75643 2136 244508 5.73 0 Nucleus;Nucleoplasm Retinitis pigmentosa 33 PE1 2 +NX_O75648 421 47745 8.24 0 Mitochondrion;Nucleoplasm;Mitochondrion Liver failure, infantile, transient PE1 22 +NX_O75663 272 31444 5.6 0 Cytosol;Cytoplasmic vesicle;Cytoplasm NA PE1 1 +NX_O75665 1012 116671 5.82 0 Centriole;Cytoskeleton;Cilium basal body;Nucleus;Centriolar satellite Retinitis pigmentosa 23;Joubert syndrome 10;Simpson-Golabi-Behmel syndrome 2;Orofaciodigital syndrome 1 PE1 X +NX_O75674 476 52989 5.11 0 Golgi stack;Endosome membrane;Cytoplasm;Membrane NA PE1 17 +NX_O75676 772 85606 8.51 0 Nucleus;Cytosol;Nucleus NA PE1 11 +NX_O75677 317 35491 7.49 0 NA NA PE2 22 +NX_O75678 378 42077 8.08 0 NA NA PE2 22 +NX_O75679 317 35386 7.43 0 Cytoplasm;Nucleus NA PE1 22 +NX_O75683 361 41450 10.65 0 Nucleolus;Nucleolus;Nucleoplasm;Nucleus NA PE1 9 +NX_O75688 479 52643 4.95 0 Cytosol;Membrane;Cytosol;Nucleolus NA PE1 2 +NX_O75689 374 43395 9.1 0 Cell membrane;Cytosol;Nucleus;Cytoplasm NA PE1 7 +NX_O75690 187 17519 8.24 0 NA NA PE1 11 +NX_O75691 2785 318385 7.07 0 Nucleolus;Cell membrane;Nucleolus NA PE1 12 +NX_O75694 1391 155199 5.78 0 Nucleus membrane;Nuclear pore complex;Nucleus membrane;Nucleus membrane Atrial fibrillation, familial, 15 PE1 5 +NX_O75695 350 39641 5 0 Cell membrane;Cilium;Cell membrane;Nucleus;Nucleoplasm Retinitis pigmentosa 2 PE1 X +NX_O75711 98 11081 6.23 0 Secreted NA PE1 4 +NX_O75712 270 30818 8.94 4 Cell junction;Cytoplasmic vesicle;Cell membrane;Gap junction Erythrokeratodermia variabilis;Deafness, autosomal dominant, 2B PE1 1 +NX_O75715 221 25202 8.83 0 Secreted NA PE1 6 +NX_O75716 305 34656 6.42 0 Membrane;Perinuclear region;Cytosol NA PE1 2 +NX_O75717 1129 125967 5.42 0 Nucleoplasm;Nucleoplasm NA PE1 14 +NX_O75718 401 46562 5.5 0 Cytosol;Cytoskeleton;Extracellular matrix;Cytoskeleton Osteogenesis imperfecta 7 PE1 3 +NX_O75746 678 74762 8.57 6 Mitochondrion inner membrane Epileptic encephalopathy, early infantile, 39 PE1 2 +NX_O75747 1445 165715 6.46 0 Membrane NA PE1 12 +NX_O75751 556 61280 8.92 7 Cytoplasmic vesicle;Cytosol;Nucleoplasm;Membrane NA PE1 6 +NX_O75752 331 39512 7.67 1 Cytoplasmic vesicle;Golgi apparatus membrane NA PE1 3 +NX_O75762 1119 127501 6.69 6 Cell membrane Episodic pain syndrome, familial, 1 PE1 8 +NX_O75764 348 38972 9.32 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 1 +NX_O75771 328 35049 5.89 0 Telomere;Nucleus;Centrosome Breast-ovarian cancer, familial, 4 PE1 17 +NX_O75781 387 42076 4.94 0 Nucleus;Axon;Dendrite;Filopodium membrane;Dendritic spine;Basolateral cell membrane;Apicolateral cell membrane;Cell membrane;Cell membrane NA PE1 19 +NX_O75783 438 48314 8.04 7 Nucleoplasm;Membrane NA PE1 16 +NX_O75787 350 39008 5.76 1 Membrane Parkinsonism with spasticity, X-linked;Mental retardation, X-linked, with epilepsy PE1 X +NX_O75791 330 37909 6.44 0 Nucleus;Cytoplasm;Endosome NA PE1 22 +NX_O75792 299 33395 5.14 0 Nucleus;Cytosol;Nucleus Aicardi-Goutieres syndrome 4 PE1 19 +NX_O75794 336 39135 4.64 0 Nucleoplasm;Cytosol;Cytoplasm;Golgi apparatus NA PE1 10 +NX_O75795 530 61095 8.76 1 Microsome membrane;Endoplasmic reticulum membrane NA PE1 4 +NX_O75800 440 50344 5.81 0 Cytoplasm;Cytoplasm;Centriolar satellite;Cytosol;Cell membrane Ciliary dyskinesia, primary, 22 PE1 3 +NX_O75807 674 73478 4.55 0 Mitochondrion outer membrane;Endoplasmic reticulum membrane;Cytoplasmic vesicle NA PE1 19 +NX_O75808 1086 117314 6.27 0 Nucleus NA PE1 16 +NX_O75815 825 92566 8.19 0 Centrosome;Cytosol;Cell membrane NA PE1 1 +NX_O75817 140 15651 9.09 0 Cytoplasm;Nucleolus;Cytoplasmic vesicle;Nucleolus;Cytoplasmic granule NA PE1 7 +NX_O75818 363 41834 6.21 0 Nucleolus;Nucleoplasm NA PE1 6 +NX_O75820 626 72976 8.85 0 Nucleus;Cytoskeleton NA PE1 9 +NX_O75821 320 35611 5.87 0 Cytosol;Perinuclear region;Nucleus;Cytoplasm NA PE1 19 +NX_O75822 258 29062 4.72 0 Cytosol;Cytoplasm NA PE1 15 +NX_O75828 277 30850 5.82 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 21 +NX_O75829 334 37102 7.5 1 Endomembrane system;Extracellular matrix NA PE1 13 +NX_O75830 405 46145 5.08 0 Secreted NA PE1 3 +NX_O75832 226 24428 5.71 0 Cytosol;Cytoplasm;Nucleus;Cytoskeleton NA PE1 X +NX_O75838 187 21644 4.48 0 Cytoplasm;Stereocilium;Photoreceptor inner segment;Photoreceptor outer segment;Sarcolemma Deafness, autosomal recessive, 48;Usher syndrome 1J PE1 15 +NX_O75840 302 33362 8.19 0 Golgi apparatus;Nucleus NA PE1 2 +NX_O75841 260 29643 5.16 4 Membrane NA PE1 3 +NX_O75843 785 87117 6.09 0 Golgi apparatus membrane;Cytoplasmic vesicle membrane;Endosome membrane NA PE1 14 +NX_O75844 475 54813 7.11 7 Endoplasmic reticulum membrane;Cytosol;Nucleus inner membrane;Golgi apparatus Mandibuloacral dysplasia with type B lipodystrophy;Lethal tight skin contracture syndrome PE1 1 +NX_O75845 299 35301 7.85 4 Nucleoplasm;Cell membrane;Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum Lathosterolosis PE1 11 +NX_O75864 691 74767 4.97 0 Cytosol NA PE1 19 +NX_O75865 159 17605 5.14 0 cis-Golgi network;Endoplasmic reticulum;Golgi apparatus NA PE1 19 +NX_O75871 244 25909 6.03 1 Membrane NA PE1 19 +NX_O75874 414 46659 6.53 0 Cytosol;Cytoplasm;Peroxisome;Nucleus;Cytoplasm Glioma PE1 2 +NX_O75879 557 61864 8.85 0 Mitochondrion;Mitochondrion NA PE1 4 +NX_O75880 301 33814 9.01 0 Mitochondrion Mitochondrial complex IV deficiency PE1 17 +NX_O75881 506 58256 8.2 0 Endoplasmic reticulum membrane;Microsome membrane Congenital bile acid synthesis defect 3;Spastic paraplegia 5A, autosomal recessive PE1 8 +NX_O75882 1429 158537 7.24 1 Secreted;Cell membrane;Cytosol NA PE1 20 +NX_O75884 186 21000 5.79 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 20 +NX_O75886 525 58164 4.94 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Cytoplasm;Early endosome membrane NA PE1 2 +NX_O75888 250 27433 9.67 0 Secreted NA PE1 17 +NX_O75891 902 98829 5.63 0 Cytosol;Cytoplasm NA PE1 3 +NX_O75896 110 12074 9.69 0 Cytosol;Cytoplasmic vesicle NA PE1 3 +NX_O75897 302 35520 8.22 0 Cytoplasm;Cytosol NA PE1 2 +NX_O75899 941 105821 8.89 7 Cell membrane;Postsynaptic cell membrane NA PE1 9 +NX_O75900 390 43935 9.94 1 Endoplasmic reticulum membrane;Membrane NA PE1 1 +NX_O75901 435 50021 5.2 0 Endosome NA PE1 12 +NX_O75907 488 55278 9.41 3 Endoplasmic reticulum membrane;Nucleolus;Endoplasmic reticulum Diarrhea 7 PE1 8 +NX_O75908 522 59896 8.96 5 Endoplasmic reticulum membrane NA PE1 12 +NX_O75909 580 64240 8.6 0 Nucleoplasm;Nucleus NA PE1 14 +NX_O75911 302 33548 9.07 4 Mitochondrion;Membrane;Nucleolus NA PE1 1 +NX_O75912 1065 116997 7.98 0 Cytoplasm;Nucleus NA PE1 7 +NX_O75914 559 62310 5.33 0 Cytosol;Cytoplasm Mental retardation, X-linked 30 PE1 X +NX_O75915 188 21615 9.77 4 Endoplasmic reticulum membrane;Cell membrane;Cytoplasm;Cytoskeleton;Endoplasmic reticulum NA PE1 3 +NX_O75916 674 76966 9.42 0 Nucleoplasm;Membrane Prolonged electroretinal response suppression PE1 17 +NX_O75920 110 12349 9.79 0 Nucleus NA PE2 5 +NX_O75923 2080 237295 5.44 1 Microtubule organizing center;Cell membrane;Cell membrane;Sarcolemma;Cytoplasmic vesicle membrane Limb-girdle muscular dystrophy 2B;Miyoshi muscular dystrophy 1;Distal myopathy with anterior tibial onset PE1 2 +NX_O75925 651 71836 6.9 0 Nucleus speckle;PML body;Cytoskeleton NA PE1 15 +NX_O75928 621 68240 7.47 0 Nucleoplasm;PML body;Nucleus speckle;Nucleus NA PE1 18 +NX_O75934 225 26131 5.48 0 Nucleus speckle;Centrosome;Nucleolus NA PE1 1 +NX_O75935 186 21119 5.37 0 Cytoplasm;Midbody;Cleavage furrow;Spindle;Kinetochore;Centrosome;Nucleolus;Cytosol NA PE1 9 +NX_O75936 387 44715 6.28 0 Cytoplasm NA PE1 11 +NX_O75937 253 29842 9.04 0 Nucleoplasm;Nucleus NA PE1 1 +NX_O75940 238 26711 6.78 0 Nucleus;Nucleus;Nucleus speckle;Cajal body NA PE1 10 +NX_O75943 681 77055 6.63 0 Nucleus;Cytoplasm;Nucleus;Nucleoplasm NA PE1 5 +NX_O75947 161 18491 5.21 0 Mitochondrion inner membrane;Mitochondrion;Mitochondrion;Nucleoplasm NA PE1 17 +NX_O75949 473 52605 8.29 2 Membrane NA PE2 X +NX_O75951 148 16956 5.73 0 Flagellum;Cell surface;Secreted NA PE1 17 +NX_O75952 493 52774 4.51 0 Cytosol;Cytoskeleton;Flagellum;Nucleus;Nucleus;Cytoplasm NA PE1 18 +NX_O75953 348 39133 9.12 0 Nucleus;Cytosol NA PE1 9 +NX_O75954 239 26779 7.89 4 Cytosol;Golgi apparatus;Nucleoplasm;Membrane NA PE1 12 +NX_O75955 427 47355 7.08 0 Cell membrane;Endosome;Caveola;Melanosome;Membrane raft;Cytoplasmic vesicle;Cell membrane;Golgi apparatus NA PE1 6 +NX_O75956 126 13101 9.51 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 11 +NX_O75962 3097 346900 5.94 0 Cytoplasm;Cytosol;Cytoplasmic vesicle Mental retardation, autosomal dominant 44 PE1 5 +NX_O75964 103 11428 9.65 0 Mitochondrion;Mitochondrion;Mitochondrion inner membrane NA PE1 11 +NX_O75969 853 94751 5.84 0 Acrosome NA PE1 12 +NX_O75970 2070 221618 4.95 0 Postsynaptic density;Apical cell membrane;Cell membrane;Tight junction;Synapse;Synaptosome;Dendrite Hydrocephalus, non-syndromic, autosomal recessive 2 PE1 9 +NX_O75971 98 11328 4.55 0 Nucleus;Nucleus NA PE1 15 +NX_O75973 258 26453 5.32 0 Secreted NA PE1 17 +NX_O75976 1380 152931 5.68 1 Nucleus membrane;Nucleoplasm;Nucleus speckle;Cell membrane NA PE1 17 +NX_O75995 380 41595 5.17 0 NA NA PE1 X +NX_O76000 313 35543 8.77 7 Cell membrane NA PE3 6 +NX_O76001 311 34950 7.6 7 Cell membrane NA PE1 6 +NX_O76002 312 35204 8.5 7 Cell membrane NA PE2 6 +NX_O76003 335 37432 5.31 0 Cytosol;Cell cortex;Z line NA PE1 10 +NX_O76009 404 45940 4.78 0 NA NA PE1 17 +NX_O76011 436 49424 5.01 0 Nucleus;Cytoplasmic vesicle NA PE1 17 +NX_O76013 467 52247 4.9 0 NA NA PE1 17 +NX_O76014 449 49747 4.9 0 NA NA PE1 17 +NX_O76015 456 50480 4.79 0 NA NA PE1 17 +NX_O76021 490 54973 10.13 0 Nucleolus;Nucleolus NA PE1 16 +NX_O76024 890 100292 8.34 11 Endoplasmic reticulum membrane Wolfram syndrome 1;Wolfram-like syndrome autosomal dominant;Cataract 41;Deafness, autosomal dominant, 6 PE1 4 +NX_O76027 345 38364 5.53 0 Cytosol;Nucleus speckle NA PE1 1 +NX_O76031 633 69224 7.51 0 Mitochondrion;Mitochondrion nucleoid;Mitochondrion NA PE1 15 +NX_O76036 304 34481 7.63 1 Cell membrane;Endoplasmic reticulum NA PE1 19 +NX_O76038 276 32040 5.25 0 Cytoplasm;Secreted;Secretory vesicle membrane NA PE1 6 +NX_O76039 1030 115538 9.58 0 Nucleus;Nucleoplasm Epileptic encephalopathy, early infantile, 2 PE1 X +NX_O76041 1014 116453 7.89 0 Cytoplasm NA PE1 10 +NX_O76042 136 14968 8.57 0 NA NA PE5 3 +NX_O76050 574 61860 8.89 0 Postsynaptic density;Perinuclear region;Cell membrane;Perikaryon;Dendrite NA PE1 10 +NX_O76054 403 46145 7.95 0 Nucleus;Cytosol;Cytoplasm;Nucleus NA PE1 22 +NX_O76061 302 33249 6.93 0 Endoplasmic reticulum;Secreted NA PE1 5 +NX_O76062 418 46406 9.05 7 Endoplasmic reticulum membrane;Microsome membrane;Cytoplasmic vesicle;Endoplasmic reticulum NA PE1 11 +NX_O76064 485 55518 7.08 0 Nucleus;Telomere;Midbody;Nucleus;Cytosol;Cytoplasm NA PE1 6 +NX_O76070 127 13331 4.89 0 Spindle;Golgi apparatus;Cell membrane;Perinuclear region;Centrosome NA PE1 10 +NX_O76071 339 37840 4.81 0 Cytosol;Nucleoplasm NA PE1 2 +NX_O76074 875 99985 5.74 0 Cytosol NA PE1 4 +NX_O76075 338 39110 9.2 0 Nucleus;Cytoplasm;Nucleolus;Nucleus NA PE1 1 +NX_O76076 250 26825 8.32 0 Secreted NA PE1 20 +NX_O76080 213 23132 8.86 0 Cytoplasm;Nucleoplasm;Cytosol NA PE1 9 +NX_O76081 388 43692 6.48 0 Membrane;Nucleus;Cytoplasm NA PE1 8 +NX_O76082 557 62752 8.07 12 Mitochondrion;Membrane Systemic primary carnitine deficiency PE1 5 +NX_O76083 593 68493 5.85 0 Cytoplasm;Ruffle membrane;Nucleoplasm;Cytoplasmic vesicle;Perinuclear region;Golgi apparatus;Endoplasmic reticulum;Sarcolemma NA PE1 21 +NX_O76087 117 12978 4.3 0 NA NA PE2 X +NX_O76090 585 67684 6.43 4 Cell membrane;Basolateral cell membrane Retinitis pigmentosa 50;Bestrophinopathy, autosomal recessive;Macular dystrophy, vitelliform, 2;Vitreoretinochoroidopathy, autosomal dominant PE1 11 +NX_O76093 207 23989 9.86 0 Secreted NA PE1 5 +NX_O76094 671 74606 9.31 0 Endoplasmic reticulum;Cytoplasm Bone marrow failure syndrome 1 PE1 4 +NX_O76095 146 16358 8.67 1 Membrane;Spindle;Centrosome;Cytoplasm;Mitochondrion;Cytoplasmic vesicle;Cytoskeleton NA PE1 1 +NX_O76096 145 16454 8.82 0 Cytoplasm;Secreted NA PE1 20 +NX_O76099 320 35519 7.55 7 Cell membrane NA PE2 19 +NX_O76100 309 34406 8.02 7 Cell membrane NA PE3 19 +NX_O77932 396 44929 7.6 0 Cytosol;Cell membrane;Nucleus;Nucleoplasm NA PE1 6 +NX_O94759 1503 171198 7.27 6 Cell membrane;Perikaryon;Cell projection;Nucleus membrane;Lysosome;Cytoplasmic vesicle NA PE1 21 +NX_O94760 285 31122 5.53 0 Cell membrane;Cytosol;Nucleolus NA PE1 1 +NX_O94761 1208 133077 8.45 0 Nucleus;Cytoplasm;Nucleus RAPADILINO syndrome;Baller-Gerold syndrome;Rothmund-Thomson syndrome PE1 8 +NX_O94762 991 108858 8.86 0 Cytosol;Nucleus;Nucleoplasm;Cytoplasm NA PE1 17 +NX_O94763 535 59832 4.92 0 Cytosol;Mitochondrion;Nucleoplasm;Cytoplasm;Nucleus;Dendrite NA PE1 19 +NX_O94766 335 37122 8.4 1 Golgi apparatus membrane;cis-Golgi network Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects PE1 11 +NX_O94768 372 42344 5.13 0 Cytosol;Cell membrane;Nucleus;Cell membrane;Endoplasmic reticulum-Golgi intermediate compartment NA PE1 2 +NX_O94769 699 79789 5.3 0 Extracellular matrix NA PE1 9 +NX_O94772 140 14669 6.91 0 Cell membrane NA PE1 8 +NX_O94776 668 75023 9.7 0 Nucleus;Nucleoplasm NA PE1 11 +NX_O94777 84 9312 9.82 2 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1U PE1 9 +NX_O94778 261 27381 6.41 6 Membrane NA PE2 16 +NX_O94779 1100 120686 5.99 0 Cell membrane;Cytosol NA PE1 11 +NX_O94782 785 88207 5.37 0 Nucleus;Nucleoplasm;Nucleus NA PE1 1 +NX_O94788 518 56724 5.79 0 Cytoplasm NA PE1 15 +NX_O94804 968 112135 6.52 0 Cell membrane Testicular germ cell tumor PE1 5 +NX_O94805 426 46877 5.48 0 Nucleus;Nucleolus NA PE1 7 +NX_O94806 890 100471 6.42 0 Cytosol;Cytoplasm;Membrane;Nucleoplasm NA PE1 2 +NX_O94808 682 76931 7.03 0 Cytoplasmic vesicle NA PE1 5 +NX_O94810 467 52946 8.99 0 NA NA PE1 16 +NX_O94811 219 23694 9.48 0 Cytoplasm;Cytoskeleton;Cytosol;Mitochondrion;Nucleus NA PE1 5 +NX_O94812 1187 131901 5.95 0 NA NA PE1 16 +NX_O94813 1529 169870 6.8 0 Secreted NA PE1 4 +NX_O94817 140 15113 5.01 0 Cytoplasm;Preautophagosomal structure membrane NA PE1 5 +NX_O94818 638 71357 5.42 0 Nucleus;Nucleolus NA PE1 18 +NX_O94819 623 65720 5.78 0 Cytoskeleton NA PE1 8 +NX_O94822 1766 200552 5.89 0 Cytosol NA PE1 21 +NX_O94823 1461 165391 6.46 10 Cytoplasmic vesicle membrane;Endoplasmic reticulum membrane NA PE1 5 +NX_O94826 608 67455 6.75 1 Cell membrane;Mitochondrion;Mitochondrion;Mitochondrion outer membrane NA PE1 3 +NX_O94827 1062 117451 5.93 0 Nucleus;Cytoplasm;Cell membrane;Perinuclear region;Cell junction;Lamellipodium Charcot-Marie-Tooth disease, recessive, intermediate type, C;Distal spinal muscular atrophy, autosomal recessive, 4 PE1 1 +NX_O94829 963 108195 5.15 0 Cytoplasm;Nucleus NA PE1 1 +NX_O94830 711 81032 5.23 0 Cytosol;Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;Microtubule organizing center;cis-Golgi network Spastic paraplegia 54, autosomal recessive PE1 8 +NX_O94832 1006 116202 9.44 0 Cytosol NA PE1 17 +NX_O94842 621 66195 4.92 0 Nucleus;Nucleus;Nucleolus;Cytoplasmic vesicle;Nucleus NA PE1 14 +NX_O94844 696 79417 6.42 0 Cytosol;Nucleoplasm NA PE1 10 +NX_O94850 711 75996 10.18 0 Cytosol;Nucleoplasm;Dendritic spine membrane;Cytoplasm;Endoplasmic reticulum membrane;Perikaryon;Nucleus NA PE1 12 +NX_O94851 1124 126689 8.9 0 Golgi apparatus;Nucleus NA PE1 11 +NX_O94854 1291 135148 4.14 0 Cell junction;Cell membrane;Cytoskeleton NA PE1 1 +NX_O94855 1032 113010 6.91 0 Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum membrane;COPII-coated vesicle membrane Cole-Carpenter syndrome 2 PE1 4 +NX_O94856 1347 150027 6.24 1 Cell membrane NA PE1 1 +NX_O94864 414 46193 5.01 0 Nucleus;Nucleoplasm NA PE1 2 +NX_O94868 740 84276 5.55 0 Cell membrane;Nucleus speckle;Cytoskeleton;Focal adhesion NA PE1 11 +NX_O94874 794 89595 6.35 0 Endoplasmic reticulum;Endoplasmic reticulum;Cytosol NA PE1 6 +NX_O94875 1100 124108 8.56 0 Perinuclear region;Lamellipodium;Nucleoplasm;Apical cell membrane;Focal adhesion NA PE1 4 +NX_O94876 653 72083 6.12 2 Endoplasmic reticulum membrane NA PE1 3 +NX_O94880 888 100053 5.22 0 NA NA PE1 7 +NX_O94885 1247 136653 5.78 0 Cytosol;Nucleoplasm NA PE1 6 +NX_O94886 807 92126 6.98 10 Microtubule organizing center;Cytoplasmic vesicle;Lysosome membrane NA PE1 1 +NX_O94887 1054 119888 8.96 0 Cytosol NA PE1 2 +NX_O94888 489 54862 5.06 0 Nucleoplasm;Nucleus NA PE1 3 +NX_O94889 574 63638 5.36 0 Nucleus;Cytoplasm;Nucleoplasm;Nucleus NA PE1 3 +NX_O94892 652 74836 9.04 0 Nucleoplasm;Nucleus NA PE1 19 +NX_O94898 1065 118965 5.35 1 Cell membrane;Cytoplasm;Nucleus;Golgi apparatus Urofacial syndrome 2 PE1 1 +NX_O94900 526 57513 6.85 0 Nucleus;Nucleus;Nucleolus NA PE1 8 +NX_O94901 812 90064 6.61 1 Cytoplasm;Nucleus inner membrane;Nucleus membrane NA PE1 7 +NX_O94903 275 30344 7.09 0 Nucleus;Cytosol;Cytoplasm Epilepsy, early-onset, vitamin B6-dependent PE1 8 +NX_O94905 339 37840 5.47 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Endoplasmic reticulum Spastic paraplegia 18, autosomal recessive PE1 8 +NX_O94906 941 106925 8.49 0 Nucleus speckle;Nucleoplasm;Nucleus speckle Retinitis pigmentosa 60 PE1 20 +NX_O94907 266 28672 8.8 0 Secreted NA PE1 10 +NX_O94910 1474 162717 6.17 7 Cell membrane;Synaptosome;Presynaptic cell membrane;Synapse;Growth cone;Axon NA PE1 19 +NX_O94911 1581 179245 6.81 14 Nucleoplasm;Cytosol;Cell membrane NA PE1 17 +NX_O94913 1555 173050 8.65 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 11 +NX_O94915 3013 339598 5.36 0 Cytosol;Cytoskeleton;Cytoskeleton NA PE1 4 +NX_O94916 1531 165763 5.12 0 Nucleus;Cytosol;Nucleus;Cytoplasm NA PE1 16 +NX_O94919 500 55017 5.55 0 Secreted;Nucleus membrane NA PE1 11 +NX_O94921 469 53057 9.06 0 Nucleus;Cytosol;Nucleus;Cytoplasm;Cell membrane NA PE1 7 +NX_O94923 617 70101 9.04 1 Golgi apparatus membrane;Mitochondrion NA PE1 15 +NX_O94925 669 73461 7.85 0 Mitochondrion;Mitochondrion;Cytosol NA PE1 2 +NX_O94927 633 71682 8.83 0 Centrosome;Spindle NA PE1 19 +NX_O94929 683 77802 8.86 0 Cell membrane;Nucleoplasm;Cell junction;Cytoplasm NA PE1 5 +NX_O94933 977 108934 7.03 1 Membrane;Mitochondrion NA PE1 3 +NX_O94941 541 58966 7.53 0 Nucleoplasm;Nucleus NA PE1 20 +NX_O94952 628 72270 5.73 0 Mitochondrion NA PE1 12 +NX_O94953 1096 121897 6.72 0 Cytosol;Nucleus;Nucleus NA PE1 19 +NX_O94955 611 69413 7.72 0 Cytoplasmic vesicle;Golgi apparatus NA PE1 5 +NX_O94956 709 76711 8.7 12 Cell membrane NA PE1 11 +NX_O94964 1423 159760 6.08 0 Nucleolus;Cytosol;Secreted NA PE1 20 +NX_O94966 1318 145651 5.89 1 Endoplasmic reticulum membrane NA PE1 3 +NX_O94967 919 101949 5.59 0 Cytoskeleton;Cytoskeleton NA PE1 1 +NX_O94972 964 107906 5.04 0 Perinuclear region;Peroxisome Mulibrey nanism PE1 17 +NX_O94973 939 103960 6.53 0 Cytoplasmic vesicle;Cell membrane;Nucleoplasm;Coated pit NA PE1 11 +NX_O94979 1220 133015 6.43 0 Cytosol;Cytoplasmic vesicle;COPII-coated vesicle membrane;Cytoplasm;Endoplasmic reticulum membrane NA PE1 4 +NX_O94983 1202 131530 6.92 0 Nucleus;Nucleus;Mitochondrion;Cytoskeleton NA PE1 17 +NX_O94985 981 109793 4.81 1 Nucleus;Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell projection;Postsynaptic cell membrane NA PE1 1 +NX_O94986 1710 195626 5.45 0 Centriole;Centrosome;Centrosome Microcephaly 9, primary, autosomal recessive;Seckel syndrome 5 PE1 15 +NX_O94988 1023 116932 6.07 0 Cytosol;Cell junction;Nucleolus NA PE1 4 +NX_O94989 841 91940 8.61 0 Cell membrane;Dendrite NA PE1 17 +NX_O94991 958 107486 6.48 1 Nucleoplasm;Golgi apparatus;Membrane NA PE1 13 +NX_O94992 359 40623 4.84 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoplasm NA PE1 17 +NX_O94993 753 81854 6.92 0 Nucleus NA PE1 5 +NX_O95006 317 35294 8.66 7 Cell membrane NA PE2 7 +NX_O95007 311 35299 8.82 7 Cell membrane NA PE2 7 +NX_O95013 312 35094 9.03 7 Cell membrane NA PE3 8 +NX_O95025 777 89651 7.94 0 Cell membrane;Secreted;Golgi apparatus NA PE1 7 +NX_O95045 317 35527 6.21 0 Cytoplasmic vesicle;Mitochondrion;Nucleus NA PE1 2 +NX_O95047 310 34802 9.18 7 Cell membrane NA PE2 6 +NX_O95049 919 101397 6.29 0 Nucleoplasm;Cell junction;Cell membrane;Tight junction NA PE1 19 +NX_O95050 263 28891 5.15 0 Cytoplasmic vesicle;Golgi apparatus;Cytoplasm NA PE1 7 +NX_O95057 198 22329 8.94 0 Cell membrane NA PE1 19 +NX_O95059 124 13693 7.62 0 Cytosol;Nucleoplasm;Nucleus NA PE1 3 +NX_O95067 398 45282 9 0 Cytoskeleton;Golgi apparatus;Cytosol NA PE1 15 +NX_O95069 426 47093 8.46 4 Cytosol;Mitochondrion;Endoplasmic reticulum membrane;Cell membrane NA PE1 1 +NX_O95070 293 32011 8.98 5 Endoplasmic reticulum membrane;Microtubule organizing center;Cytoplasmic vesicle;Golgi apparatus;Golgi apparatus membrane NA PE1 11 +NX_O95071 2799 309352 5.59 0 Cytosol;Nucleus;Nucleoplasm NA PE1 8 +NX_O95072 547 62614 5 0 Nucleus;Chromosome;Centromere;Nucleoplasm NA PE1 14 +NX_O95073 299 34768 6.62 0 Nucleus;Nucleus NA PE1 8 +NX_O95076 343 36935 8.81 0 Nucleus Frontonasal dysplasia 1 PE1 1 +NX_O95081 481 48963 9.28 0 NA NA PE1 7 +NX_O95084 383 43001 9.48 0 Golgi apparatus;Secreted NA PE1 11 +NX_O95096 273 30133 7.81 0 Nucleus NA PE1 20 +NX_O95104 1147 125869 9.58 0 Nucleoplasm;Nucleus NA PE1 21 +NX_O95125 648 74720 5.63 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 11 +NX_O95136 353 38867 9.21 7 Cell membrane Deafness, autosomal recessive, 68 PE1 19 +NX_O95139 128 15489 9.63 1 Mitochondrion;Mitochondrion inner membrane NA PE1 9 +NX_O95140 757 86402 6.52 2 Mitochondrion outer membrane Charcot-Marie-Tooth disease 2A2A;Charcot-Marie-Tooth disease 2A2B;Neuropathy, hereditary motor and sensory, 6A PE1 1 +NX_O95147 198 22255 9.62 0 Nucleoplasm;Cytosol NA PE1 17 +NX_O95149 360 41143 6.17 0 Cytoplasm;Nucleus membrane;Nucleus;Cytoplasm NA PE1 15 +NX_O95150 251 28087 6.31 1 Cytosol;Nucleus membrane;Membrane;Secreted;Nucleus NA PE1 9 +NX_O95153 1857 200051 5.05 0 Cytoplasm;Mitochondrion NA PE1 17 +NX_O95154 331 37206 6.67 0 Cytoplasm NA PE1 1 +NX_O95155 1302 146185 6.13 0 Nucleus;Cytoplasm NA PE1 1 +NX_O95156 264 29938 8.95 0 Secreted NA PE2 2 +NX_O95157 252 28127 8.82 0 Secreted NA PE1 17 +NX_O95158 308 33065 9.89 0 Secreted NA PE1 12 +NX_O95159 310 34114 8.42 1 Golgi apparatus;cis-Golgi network membrane NA PE1 11 +NX_O95163 1332 150254 5.61 0 Cytoplasm;Cytosol;Nucleus;Nucleoplasm Neuropathy, hereditary sensory and autonomic, 3 PE1 9 +NX_O95164 117 13157 6.27 0 Nucleus;Cytoplasm;Centrosome;Cell membrane NA PE1 13 +NX_O95166 117 13918 8.73 0 Endomembrane system;Cytoskeleton;Golgi apparatus membrane;Autophagosome;Cytoplasmic vesicle NA PE1 17 +NX_O95167 84 9279 8.01 1 Mitochondrion inner membrane NA PE1 19 +NX_O95168 129 15209 9.85 1 Mitochondrion;Mitochondrion inner membrane;Nucleus membrane NA PE1 3 +NX_O95169 186 21766 6.29 1 Mitochondrion;Mitochondrion;Mitochondrion inner membrane;Endoplasmic reticulum NA PE1 10 +NX_O95170 752 85370 9.23 0 NA NA PE2 17 +NX_O95171 688 77552 9.42 0 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm;Membrane NA PE1 13 +NX_O95177 125 12619 8.04 0 NA NA PE2 16 +NX_O95178 105 12058 5.47 0 Mitochondrion inner membrane NA PE1 7 +NX_O95180 2353 259163 7.13 24 Cytoplasmic vesicle;Membrane;Nucleoplasm Hyperaldosteronism, familial, 4;Epilepsy, idiopathic generalized 6;Epilepsy, childhood absence 6 PE1 16 +NX_O95182 113 12551 10.19 0 Cell membrane;Cytoplasm;Mitochondrion;Mitochondrion inner membrane NA PE1 19 +NX_O95183 116 12805 7.7 1 Endomembrane system;trans-Golgi network membrane;Cell membrane;Nucleoplasm;Cell membrane NA PE1 2 +NX_O95185 931 103146 5.74 1 Cell membrane;Synaptosome NA PE1 4 +NX_O95190 189 21011 5.21 0 Nucleus;Golgi apparatus NA PE1 15 +NX_O95196 566 60016 4.39 1 Mitochondrion;Nucleoplasm;Cell surface;Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane NA PE1 3 +NX_O95197 1032 112611 4.85 0 Endoplasmic reticulum;Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE1 11 +NX_O95198 593 65975 6.3 0 Cytoplasmic vesicle;Nucleoplasm;Cytoskeleton;Ruffle;Cell projection;Lamellipodium;Cytosol NA PE1 4 +NX_O95199 551 60315 5.29 0 Golgi apparatus;Nucleus NA PE1 13 +NX_O95201 554 60630 8.88 0 Nucleus;Nucleoplasm NA PE1 16 +NX_O95202 739 83354 6.3 1 Mitochondrion inner membrane;Mitochondrion NA PE1 4 +NX_O95206 1070 113019 5.35 1 Cell membrane;Dendrite;Presynaptic cell membrane;Postsynaptic cell membrane NA PE1 13 +NX_O95208 641 68482 7.11 0 Cytoplasm;Clathrin-coated vesicle;Cytoplasmic vesicle NA PE1 17 +NX_O95210 358 39007 5.46 1 Cytosol;Preautophagosomal structure membrane;Endoplasmic reticulum membrane NA PE1 4 +NX_O95214 131 14428 5.55 4 Membrane NA PE1 8 +NX_O95218 330 37404 10.03 0 Nucleus;Nucleus NA PE1 1 +NX_O95219 450 51909 5.69 0 Early endosome membrane NA PE1 3 +NX_O95221 314 35132 8.9 7 Cell membrane NA PE2 11 +NX_O95222 327 36154 8.4 7 Cell membrane NA PE2 11 +NX_O95229 277 31293 5.1 0 Nucleus;Nucleoplasm;Kinetochore;Cytosol;Nucleus NA PE1 10 +NX_O95231 258 27552 9.74 0 Nucleus;Nucleolus;Cytosol NA PE1 10 +NX_O95232 432 51466 9.81 0 Nucleus speckle;Nucleus speckle NA PE1 17 +NX_O95235 890 100278 6.49 0 Spindle;Golgi apparatus;Nucleoplasm NA PE1 5 +NX_O95236 402 44278 8.4 0 Cytoplasm;Mitochondrion;Nucleus NA PE1 22 +NX_O95237 230 25703 7.01 1 Endoplasmic reticulum membrane;Multivesicular body;Perinuclear region;Rough endoplasmic reticulum;Endoplasmic reticulum;Golgi apparatus Leber congenital amaurosis 14 PE1 4 +NX_O95238 335 37518 5.89 0 Nucleolus;Nucleus;Nucleus NA PE1 6 +NX_O95239 1232 139881 5.99 0 Midbody;Nucleus matrix;Spindle;Chromosome NA PE1 X +NX_O95243 580 66051 9.01 0 Nucleus speckle;Nucleus NA PE1 3 +NX_O95248 1867 208315 6.46 0 Nucleus;Endoplasmic reticulum;Cytoplasmic vesicle Charcot-Marie-Tooth disease 4B3 PE1 22 +NX_O95249 250 28613 9.46 1 Golgi apparatus membrane NA PE1 17 +NX_O95251 611 70642 9.01 0 Nucleoplasm;Nucleoplasm NA PE1 17 +NX_O95255 1503 164906 8.82 17 Cell membrane;Basolateral cell membrane;Endoplasmic reticulum membrane Arterial calcification of infancy, generalized, 2;Pseudoxanthoma elasticum PE1 16 +NX_O95256 599 68310 8.67 1 Cell membrane NA PE1 2 +NX_O95257 159 17121 4.26 0 Nucleus NA PE1 9 +NX_O95258 325 36202 9.66 6 Mitochondrion;Mitochondrion inner membrane NA PE1 X +NX_O95259 989 111423 7.52 6 Cell membrane;Nucleus inner membrane;Dendrite;Cytoplasmic vesicle;Postsynaptic density;Early endosome membrane;Axon;Presynaptic cell membrane;Perikaryon Temple-Baraitser syndrome;Zimmermann-Laband syndrome 1 PE1 1 +NX_O95260 518 59090 8.17 0 Nucleus;Cytoplasm;Nucleus NA PE1 10 +NX_O95263 885 98979 6.35 0 Nucleoplasm;Cytosol Striatal degeneration, autosomal dominant 1;Primary pigmented nodular adrenocortical disease 3 PE1 5 +NX_O95264 441 50292 5.15 4 Cell membrane NA PE1 11 +NX_O95267 797 90402 8.2 0 Golgi apparatus membrane;Endoplasmic reticulum membrane;Cytosol;Cell membrane;Cell membrane;Cytosol Systemic lupus erythematosus PE1 15 +NX_O95271 1327 142039 6.58 0 Nucleus membrane;Cytoplasm;Spindle pole;Golgi apparatus membrane;Nucleoplasm;Nuclear pore complex;Centromere;Telomere NA PE1 8 +NX_O95273 360 40262 4.71 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 15 +NX_O95274 346 35971 8.05 0 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane NA PE1 19 +NX_O95278 331 37158 6.19 0 Nucleoplasm;Endoplasmic reticulum membrane;Nucleus;Cell membrane;Cytoplasm Epilepsy, progressive myoclonic 2 PE1 6 +NX_O95279 499 55130 6.3 4 Nucleus;Membrane NA PE1 6 +NX_O95292 243 27228 6.85 1 Endoplasmic reticulum membrane;Endoplasmic reticulum Spinal muscular atrophy, proximal, adult, autosomal dominant;Amyotrophic lateral sclerosis 8 PE1 20 +NX_O95294 804 90016 6.09 0 Cell membrane;Cytosol;Cell junction NA PE1 12 +NX_O95295 136 14874 9.35 0 Synaptic vesicle membrane;Lysosome membrane;Golgi apparatus membrane;Perinuclear region;Cytosol;Golgi apparatus;Nucleolus;Membrane NA PE1 1 +NX_O95297 269 29082 8.85 1 Membrane;Cell membrane;Cytoplasmic vesicle NA PE1 1 +NX_O95298 119 14188 9.04 1 Cytoplasm;Mitochondrion inner membrane NA PE1 11 +NX_O95299 355 40751 8.67 0 Mitochondrion;Mitochondrion matrix Leigh syndrome PE1 2 +NX_O95302 570 63084 4.91 0 Endoplasmic reticulum NA PE1 7 +NX_O95319 508 54285 8.98 0 Nucleus;Cytoplasm;Nucleoplasm;Cytoskeleton;Cytoskeleton NA PE1 10 +NX_O95336 258 27547 5.7 0 Cytosol;Nucleoplasm;Cytoplasm NA PE1 19 +NX_O95340 614 69501 8.18 0 Mitochondrion Brachyolmia type 4 with mild epiphyseal and metaphyseal changes PE1 10 +NX_O95342 1321 146407 6.17 12 Nucleoplasm;Cell membrane;Membrane;Cytosol Cholestasis, benign recurrent intrahepatic, 2;Cholestasis, progressive familial intrahepatic, 2 PE1 2 +NX_O95343 332 35487 8.95 0 Nucleoplasm;Nucleus Holoprosencephaly 2;Schizencephaly PE1 2 +NX_O95347 1197 135656 8.54 0 Nucleolus;Nucleus;Chromosome;Nucleus;Cytoplasm NA PE1 9 +NX_O95352 703 77960 5.85 0 Cytosol;Nucleoplasm;Cell membrane;Preautophagosomal structure;Cytoplasm NA PE1 3 +NX_O95359 2948 309427 4.71 0 Cell membrane;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Centrosome NA PE1 10 +NX_O95361 564 63955 5.34 0 Cytoplasm NA PE1 17 +NX_O95363 451 52357 6.99 0 Cell membrane;Mitochondrion;Mitochondrion matrix Spastic paraplegia 77, autosomal recessive;Combined oxidative phosphorylation deficiency 14 PE1 6 +NX_O95365 584 61439 4.98 0 Nucleoplasm;Nucleus NA PE1 19 +NX_O95371 312 34412 8.96 7 Cell membrane NA PE2 16 +NX_O95372 231 24737 6.74 0 Cytoplasm NA PE1 1 +NX_O95373 1038 119517 4.7 0 Nucleus;Cytoplasm;Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA PE1 11 +NX_O95376 493 57819 5.4 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 3 +NX_O95377 273 31088 8.53 4 Cell membrane;Gap junction NA PE1 1 +NX_O95379 198 23003 7.75 0 Cytoplasm;Nucleoplasm NA PE1 5 +NX_O95382 1288 142596 6.7 0 Nucleus;Cytosol;Cytoskeleton;Cell membrane NA PE1 1 +NX_O95388 367 40331 6.84 0 Cytosol;Secreted NA PE1 8 +NX_O95389 354 39293 8.87 0 Secreted;Endoplasmic reticulum Progressive pseudorheumatoid arthropathy of childhood PE1 6 +NX_O95390 407 45091 8.18 0 Cytoplasmic vesicle;Secreted NA PE1 12 +NX_O95391 586 68387 6.69 0 Nucleoplasm;Nucleus;Nucleus speckle;Cytoplasm NA PE1 5 +NX_O95393 424 48047 4.89 0 Secreted NA PE1 2 +NX_O95394 542 59852 5.84 0 Cytosol;Nucleoplasm Immunodeficiency 23 PE1 6 +NX_O95395 438 50864 8.53 1 Cytoplasmic vesicle;Golgi apparatus;Golgi apparatus membrane NA PE1 15 +NX_O95396 460 49669 5.85 0 Cytoplasm NA PE1 20 +NX_O95397 391 43539 5.03 0 NA NA PE5 12 +NX_O95398 923 103751 7.28 0 Endomembrane system;Cytosol NA PE1 12 +NX_O95399 124 14296 7.67 0 Secreted NA PE1 1 +NX_O95400 341 37646 4.49 0 Cytosol;Nucleus speckle;Cytoplasm;Nucleus NA PE1 16 +NX_O95402 600 65446 9.27 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytosol NA PE1 19 +NX_O95405 1425 156403 4.89 0 Early endosome membrane;Cytosol;Cytoplasmic vesicle;Cytoplasm NA PE1 1 +NX_O95406 144 16699 5.39 3 Golgi apparatus membrane;Cytoplasmic vesicle;Endoplasmic reticulum membrane NA PE1 14 +NX_O95407 300 32680 8.68 0 Secreted NA PE1 20 +NX_O95409 532 55006 8.68 0 Nucleus;Nucleus;Cytoplasm Holoprosencephaly 5 PE1 13 +NX_O95411 115 12414 8.35 0 Nucleus NA PE2 17 +NX_O95415 125 13645 8.69 2 Lysosome membrane NA PE1 7 +NX_O95416 240 26485 9.68 0 Nucleus NA PE1 3 +NX_O95424 95 10429 3.61 0 Cytoplasm;Nucleus speckle;Cytosol NA PE2 16 +NX_O95425 2214 247746 6.55 0 Cytosol;Invadopodium;Cytoskeleton;Cell membrane;Cytoskeleton;Cell membrane;Podosome;Midbody;Cleavage furrow NA PE1 10 +NX_O95427 931 105810 8.82 15 Endoplasmic reticulum membrane;Cell membrane;Cytosol Multiple congenital anomalies-hypotonia-seizures syndrome 1 PE1 18 +NX_O95428 1278 137700 6.45 0 Secreted;Nucleoplasm NA PE1 14 +NX_O95429 457 49594 5.02 0 Cytoplasm NA PE1 8 +NX_O95433 338 38274 5.41 0 Endoplasmic reticulum;Cytosol;Cytosol NA PE1 14 +NX_O95436 690 75759 8.54 8 Membrane Pulmonary alveolar microlithiasis PE1 4 +NX_O95445 188 21253 5.66 0 Cell membrane;Secreted;Golgi apparatus NA PE1 6 +NX_O95447 670 76505 9.51 0 Nucleoplasm;Cytosol NA PE1 21 +NX_O95450 1211 134755 6.76 0 Cytoplasmic vesicle;Cell membrane;Extracellular matrix Ehlers-Danlos syndrome 7C PE1 5 +NX_O95452 261 30387 8.81 4 Cell junction;Cell membrane;Gap junction Ectodermal dysplasia 2, Clouston type;Deafness, autosomal dominant, 3B;Deafness, autosomal recessive, 1B PE1 13 +NX_O95453 639 73451 5.86 0 Nucleus speckle;Nucleus;Cytoplasm;Nucleolus;Nucleolus Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 4;Dyskeratosis congenita, autosomal recessive, 6 PE1 16 +NX_O95455 350 40214 6.15 0 Nucleus;Nucleolus;Cytoskeleton Catel-Manzke syndrome PE1 13 +NX_O95456 288 32854 6.88 0 Nucleoplasm;Golgi apparatus;Cytoplasm;Endoplasmic reticulum;Cytosol NA PE1 21 +NX_O95460 622 68487 5.73 0 Secreted NA PE1 20 +NX_O95461 756 88066 7.89 1 Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 PE1 22 +NX_O95466 1100 121854 5.56 0 Cytoplasm;Cytosol;Cell membrane;Bleb;Phagosome;Cell cortex NA PE1 17 +NX_O95467 245 28029 5.37 0 Secreted;Secretory vesicle Pseudohypoparathyroidism 1B;ACTH-independent macronodular adrenal hyperplasia 1;GNAS hyperfunction PE1 20 +NX_O95470 568 63524 9.24 1 Endoplasmic reticulum membrane;Endoplasmic reticulum Nephrotic syndrome 14 PE1 10 +NX_O95471 211 22418 8.91 4 Cell junction;Cytoplasmic vesicle;Basolateral cell membrane;Cell membrane;Tight junction NA PE1 17 +NX_O95473 234 25820 7.64 4 Golgi apparatus;Membrane NA PE1 19 +NX_O95475 246 27687 9.49 0 Nucleoplasm;Nucleus Optic disk anomalies with retinal and/or macular dystrophy PE1 14 +NX_O95476 244 28377 9.78 1 Nucleus membrane;Endoplasmic reticulum membrane NA PE1 17 +NX_O95477 2261 254302 6.43 15 Nucleoplasm;Membrane;Cytoplasmic vesicle High density lipoprotein deficiency 1;High density lipoprotein deficiency 2 PE1 9 +NX_O95478 260 30065 10.28 0 Nucleus;Nucleolus;Nucleolus;Nucleolus;Nucleus NA PE1 5 +NX_O95479 791 88893 6.84 0 Cytosol;Endoplasmic reticulum lumen Cortisone reductase deficiency PE1 1 +NX_O95484 217 22848 6.54 4 Tight junction;Cytoplasmic vesicle;Cell membrane;Cell junction NA PE1 16 +NX_O95486 1093 119749 7.58 0 Cytoplasmic vesicle;Nucleolus;Cytosol;Endoplasmic reticulum membrane;COPII-coated vesicle membrane NA PE1 5 +NX_O95487 1268 137418 6.19 0 Cytoplasmic vesicle;Cytosol;Nucleus;Endoplasmic reticulum membrane;COPII-coated vesicle membrane NA PE1 4 +NX_O95490 1459 163349 6.02 7 Membrane;Cell membrane;Cell junction NA PE1 1 +NX_O95497 513 57012 5.32 0 Cell membrane NA PE1 6 +NX_O95498 520 58503 6.07 0 Cell membrane NA PE1 6 +NX_O95500 239 25699 8.94 4 Tight junction;Cell membrane Deafness, autosomal recessive, 29 PE1 21 +NX_O95502 500 52846 5.82 1 Cytosol;Nucleoplasm;Membrane;Cell membrane NA PE1 22 +NX_O95503 412 43898 10.02 0 Nucleus;Mitochondrion;Chromosome;Nucleus NA PE1 22 +NX_O95521 474 55149 8.88 0 NA NA PE2 1 +NX_O95522 483 54633 6.11 0 Nucleoplasm NA PE3 1 +NX_O95528 541 56911 8.9 12 Endomembrane system;Cytosol;Perinuclear region Arterial tortuosity syndrome PE1 20 +NX_O95544 446 49228 6.03 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 1 +NX_O95551 362 40930 5.02 0 PML body;Nucleolus;Cytoplasm;Nucleus;Nucleoplasm;Nucleus Spinocerebellar ataxia, autosomal recessive, 23 PE1 6 +NX_O95561 183 21209 9.86 0 NA NA PE1 1 +NX_O95562 160 17779 9.34 4 Membrane NA PE1 1 +NX_O95563 127 14279 10.44 3 Mitochondrion;Mitochondrion inner membrane NA PE1 1 +NX_O95567 290 32655 10.06 0 NA NA PE2 22 +NX_O95568 372 42148 6.29 0 Nucleoplasm;Cytosol NA PE1 1 +NX_O95571 254 27873 6.35 0 Mitochondrion matrix;Nucleus;Cytoplasm;Mitochondrion Ethylmalonic encephalopathy PE1 19 +NX_O95573 720 80420 8.65 1 Mitochondrion outer membrane;Lipid droplet;Nucleolus;Peroxisome membrane;Microsome membrane;Endoplasmic reticulum membrane NA PE1 2 +NX_O95600 359 39314 7.19 0 Nucleoplasm;Nucleus NA PE1 X +NX_O95602 1720 194811 6.61 0 Nucleus;Nucleolus;Nucleolus Acrofacial dysostosis, Cincinnati type PE1 2 +NX_O95613 3336 378037 5.4 0 Centrosome;Centrosome Microcephalic osteodysplastic primordial dwarfism 2 PE1 21 +NX_O95619 227 26499 8.4 0 Nucleus;Nucleoplasm;Nucleus membrane NA PE1 12 +NX_O95620 317 35816 7.04 0 Cytosol NA PE1 7 +NX_O95622 1261 138908 6.9 12 Cilium;Cell membrane;Cytoskeleton Dyskinesia, familial, with facial myokymia PE1 3 +NX_O95625 1053 119384 8.93 0 Nucleus;Nucleoplasm NA PE1 3 +NX_O95626 131 14806 4.98 0 NA NA PE1 12 +NX_O95628 575 63510 6.58 0 Cytoplasm;Nucleus NA PE1 7 +NX_O95630 424 48077 5.89 0 Cytosol;Early endosome;Cytoplasm;Nucleoplasm;Cell membrane;Membrane;Nucleus Microcephaly-capillary malformation syndrome PE1 2 +NX_O95631 604 67748 9.1 0 Extracellular matrix NA PE1 17 +NX_O95633 263 27663 6.37 0 Nucleoplasm;Secreted;Nucleus NA PE1 19 +NX_O95639 269 30255 8.68 0 Nucleoplasm;Nucleus NA PE1 7 +NX_O95644 943 101243 6.52 0 Nucleus;Nucleoplasm;Cytoplasm;Nucleus NA PE1 18 +NX_O95661 229 25861 9.46 0 Nucleus membrane;Cytosol;Cell membrane NA PE1 1 +NX_O95665 410 45385 9.5 7 Cell membrane NA PE1 2 +NX_O95670 118 13604 10.26 0 Melanosome NA PE1 6 +NX_O95671 621 68857 5.71 0 Cytosol NA PE1 X +NX_O95672 775 87791 6.58 1 Nucleus membrane;Nucleoplasm;Nucleolus;Membrane Arthrogryposis, distal, 5D PE1 2 +NX_O95674 445 51418 6.64 6 Cytosol;Mitochondrion inner membrane;Endoplasmic reticulum NA PE1 20 +NX_O95677 639 69505 5.04 0 Cytoplasm;Nucleoplasm;Nucleus Deafness, autosomal dominant, 10;Cardiomyopathy, dilated 1J PE1 6 +NX_O95678 551 59560 7.6 0 Cell membrane;Cytosol Loose anagen hair syndrome PE1 12 +NX_O95684 399 43065 4.67 0 Centrosome;Centrosome;Centriole;Cilium basal body NA PE1 6 +NX_O95685 299 32559 8.44 0 Nucleolus;Cytoplasmic vesicle;Mitochondrion NA PE1 20 +NX_O95696 1058 119520 8.91 0 Nucleus;Nucleus speckle NA PE1 22 +NX_O95704 486 52585 5.97 0 Nucleus;Cytoplasm;Cytoskeleton;Cytosol NA PE1 5 +NX_O95707 220 25425 10.08 0 Nucleolus NA PE1 19 +NX_O95711 162 17906 5.83 0 Extracellular space NA PE1 6 +NX_O95714 4834 527228 5.88 0 Centriole;Cytoplasm;Nucleus;Cytoplasmic vesicle Mental retardation, autosomal recessive 38 PE1 15 +NX_O95715 111 13078 10.1 0 Golgi apparatus;Secreted NA PE1 5 +NX_O95716 219 24267 4.76 0 Cytoplasmic vesicle;Cell membrane NA PE1 19 +NX_O95718 433 48054 8.09 0 Nucleus;Chromosome;Cytoplasm Deafness, autosomal recessive, 35 PE1 14 +NX_O95721 258 28970 5.56 0 Cytoplasm;Golgi apparatus membrane;Cytosol;Autophagosome membrane;Nucleoplasm;Cilium membrane Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome PE1 22 +NX_O95727 393 44641 6.37 1 Membrane NA PE1 11 +NX_O95741 557 61991 5.32 0 Cytoplasm;Endosome;Clathrin-coated vesicle;Perikaryon;Dendrite;Cell membrane NA PE1 14 +NX_O95744 297 32669 9.52 0 NA NA PE5 7 +NX_O95747 527 58022 6.03 0 Cytosol;Cytoplasm NA PE1 3 +NX_O95749 300 34871 5.78 0 Cytoplasm NA PE1 1 +NX_O95750 216 24003 6.55 0 Secreted NA PE1 11 +NX_O95751 146 16968 4.11 0 Nucleus;Nucleus;Nucleolus NA PE1 X +NX_O95754 770 83511 6.5 1 Endoplasmic reticulum;Nucleus;Membrane;Centrosome;Cell membrane NA PE1 2 +NX_O95755 333 36322 8.05 0 Golgi apparatus membrane;Cytoplasmic vesicle NA PE1 22 +NX_O95757 839 94512 5.63 0 Centrosome;Cytosol;Cytoplasm;Nucleus NA PE1 4 +NX_O95758 552 59690 9.13 0 Nucleus NA PE1 9 +NX_O95759 1140 130835 5.32 0 Nucleus NA PE1 2 +NX_O95760 270 30759 8.89 0 Secretory vesicle;Cytosol;Secreted;Nucleus;Chromosome;Nucleoplasm NA PE1 9 +NX_O95772 234 26655 4.75 4 Cytoplasmic vesicle;Late endosome membrane NA PE1 7 +NX_O95777 96 10403 4.34 0 Cytoplasmic vesicle;Nucleus;Nucleoplasm NA PE1 7 +NX_O95780 498 58361 9.22 0 Golgi apparatus;Nucleus NA PE2 19 +NX_O95782 977 107546 6.63 0 Cytoplasmic vesicle;Cell membrane;Coated pit NA PE1 19 +NX_O95785 1651 178674 6.4 0 Nucleus;Midbody;Nucleoplasm NA PE1 19 +NX_O95786 925 106600 6.03 0 Cytosol;Cytoskeleton;Tight junction;Cytoplasm;Ruffle membrane Singleton-Merten syndrome 2 PE1 9 +NX_O95789 1325 148089 8.59 0 Nucleoplasm;Nucleus NA PE1 1 +NX_O95793 577 63182 9.46 0 Cytosol;Cytoplasm;Rough endoplasmic reticulum;Cytoplasm NA PE1 20 +NX_O95800 540 59359 9.28 7 Cell membrane NA PE1 2 +NX_O95801 387 44679 5.43 0 Nucleus speckle;Cytosol NA PE1 1 +NX_O95803 873 100902 8.21 1 Golgi apparatus membrane NA PE2 4 +NX_O95807 157 17400 5.57 4 Endoplasmic reticulum;Cell membrane;Cytosol;Membrane;Cytoskeleton NA PE1 1 +NX_O95810 425 47173 5.14 0 Cytosol;Cell membrane;Cytosol;Caveola NA PE1 2 +NX_O95813 267 30084 7.7 0 Secreted NA PE1 9 +NX_O95816 211 23772 6.25 0 Cytoplasm;Nucleoplasm NA PE1 6 +NX_O95817 575 61595 6.46 0 Cytoplasm;Nucleus;Cytoplasm;Cytosol;Cell membrane Cardiomyopathy, dilated 1HH;Myopathy, myofibrillar, 6 PE1 10 +NX_O95819 1239 142101 7.09 0 Cytoplasm NA PE1 2 +NX_O95822 493 55003 9.11 0 Cytoplasm;Mitochondrion matrix;Peroxisome;Peroxisome matrix Malonyl-CoA decarboxylase deficiency PE1 16 +NX_O95825 349 38697 5.49 0 Nucleoplasm;Cytosol NA PE1 21 +NX_O95831 613 66901 9.04 0 Mitochondrion intermembrane space;Mitochondrion inner membrane;Cytoplasm;Nucleus;Perinuclear region Cowchock syndrome;Combined oxidative phosphorylation deficiency 6;Deafness, X-linked, 5 PE1 X +NX_O95832 211 22744 8.41 4 Basolateral cell membrane;Tight junction;Cell membrane Ichthyosis-sclerosing cholangitis neonatal syndrome PE1 3 +NX_O95833 236 26648 5.99 1 Nucleus;Membrane;Cytoplasm;Nucleus NA PE1 9 +NX_O95834 649 70679 5.86 0 Spindle;Cytoskeleton;Cytoplasmic vesicle NA PE1 19 +NX_O95835 1130 126870 8.84 0 Centrosome;Cytoplasmic vesicle;Nucleoplasm NA PE1 6 +NX_O95837 355 41571 5.81 0 NA NA PE1 9 +NX_O95838 553 63001 9.1 7 Cell membrane;Cell membrane NA PE2 17 +NX_O95841 491 56720 8.42 0 Secreted NA PE1 1 +NX_O95843 209 23822 4.95 0 NA NA PE1 3 +NX_O95847 323 36064 9.15 6 Mitochondrion;Mitochondrion inner membrane NA PE1 6 +NX_O95848 222 24118 4.95 0 Nucleolus;Cytoplasm;Cytoskeleton NA PE1 14 +NX_O95857 204 22147 8.27 4 Nucleus;Membrane NA PE1 7 +NX_O95858 294 33165 5.3 4 Cell membrane;Cytosol;Nucleoplasm;Late endosome membrane NA PE1 10 +NX_O95859 305 35383 5.72 4 Cytoskeleton;Cytoplasmic vesicle;Cell membrane Vitreoretinopathy, exudative 5 PE1 7 +NX_O95861 308 33392 5.46 0 Nucleus speckle NA PE1 1 +NX_O95863 264 29083 8.97 0 Nucleus;Cytoplasm;Cytosol;Nucleus NA PE1 20 +NX_O95864 444 52259 8.86 4 Endoplasmic reticulum membrane NA PE1 11 +NX_O95865 285 29644 5.66 0 Microtubule organizing center;Mitochondrion;Cytoplasm;Cytosol NA PE1 6 +NX_O95866 241 26163 9.68 1 Golgi apparatus;Endoplasmic reticulum;Golgi apparatus;Cell membrane Thrombocytopenia, anemia, and myelofibrosis PE1 6 +NX_O95867 125 13821 8.53 0 Cell membrane NA PE1 6 +NX_O95868 133 13691 6.56 0 Filopodium;Cell membrane NA PE1 6 +NX_O95870 558 63243 8.39 2 Membrane NA PE1 6 +NX_O95872 356 39314 8.36 0 Endoplasmic reticulum NA PE1 6 +NX_O95873 294 31710 5.95 0 Cytosol NA PE1 6 +NX_O95876 746 85084 5.97 0 Cell junction;Cell membrane;Cilium axoneme;Cilium basal body Bardet-Biedl syndrome 15;Congenital heart defects, hamartomas of tongue, and polysyndactyly PE1 2 +NX_O95881 172 19206 5.25 0 Endoplasmic reticulum lumen NA PE1 1 +NX_O95886 979 106040 8.99 0 Cell membrane;Postsynaptic density;Synapse NA PE1 1 +NX_O95897 454 51386 8.06 0 Secreted;Synapse;Nucleoplasm;Membrane;Nucleus;Cytoplasm NA PE1 19 +NX_O95900 331 36694 9.12 0 Cytosol;Mitochondrion matrix NA PE1 9 +NX_O95905 644 72758 4.75 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA PE1 10 +NX_O95907 504 52319 5.53 12 Cell membrane;Focal adhesion;Cytoskeleton NA PE1 22 +NX_O95918 312 34763 8.51 7 Cell membrane NA PE2 6 +NX_O95922 423 48988 8.87 0 Mitochondrion;Cytoskeleton;Nucleolus NA PE1 22 +NX_O95925 133 15284 8.52 0 Cell surface;Secreted NA PE1 20 +NX_O95926 243 28722 8.38 0 Nucleus;Nucleus;Nucleus speckle NA PE1 1 +NX_O95931 251 28341 9.46 0 Nucleoplasm;Nucleus;Cytosol NA PE1 22 +NX_O95932 706 79312 6.85 0 Cytoplasm Spinocerebellar ataxia 35 PE1 20 +NX_O95935 607 64753 8.98 0 Nucleus Congenital anomalies of kidney and urinary tract 2 PE1 6 +NX_O95936 686 72732 6.94 0 Nucleus NA PE1 3 +NX_O95944 276 30677 8.15 1 Cell membrane NA PE1 6 +NX_O95947 436 47045 8.16 0 Nucleus Spondylocostal dysostosis 5 PE1 16 +NX_O95948 504 54303 9.65 0 Nucleoplasm;Nucleus;Cytoskeleton NA PE1 18 +NX_O95954 541 58927 5.58 0 Centriole;Golgi apparatus;Cell membrane;Cytosol Glutamate formiminotransferase deficiency PE1 21 +NX_O95965 494 53921 5.39 0 Secreted NA PE1 13 +NX_O95967 443 49405 4.79 0 Secreted Cutis laxa, autosomal recessive, 1B PE1 11 +NX_O95968 90 9898 9.41 0 Secreted NA PE1 11 +NX_O95969 90 9925 8.58 0 Secreted NA PE1 11 +NX_O95970 557 63818 8.5 0 Secreted;Synapse Epilepsy, familial temporal lobe, 1 PE1 10 +NX_O95971 181 19810 6.94 0 Cell membrane NA PE1 1 +NX_O95972 392 45055 9.28 0 Secreted Premature ovarian failure 4;Ovarian dysgenesis 2 PE1 X +NX_O95976 241 27013 8.93 1 Membrane NA PE1 16 +NX_O95977 384 41623 10.04 7 Mitochondrion;Cell membrane NA PE1 19 +NX_O95980 971 106457 6.35 0 Cell membrane;Cell membrane NA PE1 9 +NX_O95983 291 32844 5.22 0 Nucleus;Chromosome;Nucleoplasm NA PE1 19 +NX_O95985 862 96662 8.47 0 Cytoplasmic vesicle NA PE1 22 +NX_O95988 128 14846 6.84 0 Cytosol NA PE1 14 +NX_O95989 172 19471 5.99 0 Cytoplasm NA PE1 6 +NX_O95990 144 17455 9.71 0 Nucleus;Nucleus speckle;Nucleus NA PE1 3 +NX_O95992 272 31745 6.77 3 Endoplasmic reticulum membrane NA PE1 10 +NX_O95994 175 19979 9.03 0 Cytosol;Endoplasmic reticulum;Secreted NA PE1 7 +NX_O95995 478 56356 7.72 0 Cytoskeleton;Flagellum;Cilium axoneme;Cilium basal body;Golgi apparatus;Cytoplasm;Cell membrane;Cytosol Ciliary dyskinesia, primary, 33 PE1 16 +NX_O95996 2303 243949 9.08 0 Cytoskeleton;Cytosol;Midbody ring;Cytoskeleton;Golgi apparatus;Cytoplasm;Perinuclear region Sotos syndrome 3 PE1 19 +NX_O95997 202 22024 6.18 0 Cytoplasm;Nucleus NA PE1 5 +NX_O95998 194 21099 6.99 0 Endoplasmic reticulum;Secreted NA PE1 11 +NX_O95999 233 26252 5.57 0 Nucleoplasm;Perinuclear region;Membrane raft Immunodeficiency 37;Lymphoma, mucosa-associated lymphoid type PE1 1 +NX_O96000 172 20777 8.72 0 Mitochondrion inner membrane NA PE1 16 +NX_O96001 155 17866 8.48 0 NA NA PE1 7 +NX_O96002 111 13452 9.61 2 Membrane NA PE5 X +NX_O96004 215 23627 9.69 0 Nucleoplasm;Nucleolus;Nucleus membrane;Nucleus NA PE2 5 +NX_O96005 669 76097 5.88 5 Cell membrane;Golgi apparatus;Endoplasmic reticulum;Nucleus membrane;Membrane;Microtubule organizing center NA PE1 19 +NX_O96006 694 78156 5.79 0 Centrosome;Nucleoplasm;Nucleus;Nucleus membrane NA PE1 X +NX_O96007 188 20944 5.35 0 Cytosol;Nucleus;Cytosol Molybdenum cofactor deficiency, complementation group B PE1 5 +NX_O96008 361 37893 6.79 0 Mitochondrion outer membrane;Cytosol;Mitochondrion NA PE1 19 +NX_O96009 420 45387 6.15 0 Secreted NA PE1 19 +NX_O96011 259 28431 9.91 1 Peroxisome membrane Peroxisome biogenesis disorder 14B PE1 1 +NX_O96013 591 64072 9.76 0 Cell membrane;Cell junction;Cytoplasm NA PE1 19 +NX_O96014 354 39179 9.05 0 Extracellular matrix;Centrosome;Cytosol NA PE1 11 +NX_O96015 105 12009 5.36 0 Cytosol;Cilium axoneme;Nucleus;Centrosome;Nucleolus Mirror movements 3 PE1 22 +NX_O96017 543 60915 5.65 0 Nucleus;PML body;Nucleoplasm;Golgi apparatus;Nucleoplasm Osteogenic sarcoma;Li-Fraumeni syndrome 2;Breast cancer;Prostate cancer PE1 22 +NX_O96018 575 61454 4.83 0 Perinuclear region;Cytoplasmic vesicle NA PE1 19 +NX_O96019 429 47461 5.39 0 Cell membrane;Cytosol;Nucleus;Nucleoplasm NA PE1 3 +NX_O96020 404 46757 7.95 0 Nucleus NA PE1 8 +NX_O96024 378 41537 8.63 1 Golgi apparatus membrane NA PE1 6 +NX_O96028 1365 152258 9 0 Nucleus;Nucleus;Chromosome;Cytoplasm NA PE1 4 +NX_O96033 88 9755 4.67 0 Cytosol Molybdenum cofactor deficiency, complementation group B PE1 5 +NX_O97980 41 4965 4.95 0 NA NA PE1 5 +NX_P00156 380 42718 7.83 8 Mitochondrion inner membrane;Mitochondrion Leber hereditary optic neuropathy;Cardiomyopathy, infantile histiocytoid PE1 MT +NX_P00167 134 15330 4.88 1 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cytosol;Microsome membrane;Cytoplasm Methemoglobinemia CYB5A-related PE1 18 +NX_P00325 375 39855 8.63 0 Cytoplasm NA PE1 4 +NX_P00326 375 39868 8.63 0 Cytoplasm NA PE1 4 +NX_P00338 332 36689 8.44 0 Cytoplasm;Cytosol;Cytoplasm;Cytoplasmic vesicle Glycogen storage disease 11 PE1 11 +NX_P00352 501 54862 6.3 0 Cytosol;Cytosol NA PE1 9 +NX_P00367 558 61398 7.66 0 Mitochondrion matrix Familial hyperinsulinemic hypoglycemia 6 PE1 10 +NX_P00374 187 21453 6.85 0 Mitochondrion;Cytoplasm Megaloblastic anemia due to dihydrofolate reductase deficiency PE1 5 +NX_P00387 301 34235 7.18 0 Endoplasmic reticulum;Mitochondrion outer membrane;Endoplasmic reticulum membrane;Cytoplasm Methemoglobinemia CYB5R3-related PE1 22 +NX_P00390 522 56257 8.74 0 Cytosol;Mitochondrion;Cytoplasm;Cell membrane NA PE1 8 +NX_P00395 513 57041 6.19 12 Mitochondrion inner membrane;Mitochondrion Leber hereditary optic neuropathy;Recurrent myoglobinuria mitochondrial;Deafness, sensorineural, mitochondrial;Colorectal cancer;Mitochondrial complex IV deficiency PE1 MT +NX_P00403 227 25565 4.67 2 Mitochondrion inner membrane Mitochondrial complex IV deficiency PE1 MT +NX_P00414 261 29951 6.78 7 Nucleoplasm;Mitochondrion inner membrane Recurrent myoglobinuria mitochondrial;Leber hereditary optic neuropathy;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Mitochondrial complex IV deficiency PE1 MT +NX_P00439 452 51862 6.15 0 Endoplasmic reticulum;Cytoplasmic vesicle Hyperphenylalaninemia;Non-phenylketonuria hyperphenylalaninemia;Phenylketonuria PE1 12 +NX_P00441 154 15936 5.7 0 Cytoplasm;Nucleus;Cytosol;Cell membrane;Nucleus;Mitochondrion Amyotrophic lateral sclerosis 1 PE1 21 +NX_P00450 1065 122205 5.44 0 Secreted Aceruloplasminemia PE1 3 +NX_P00451 2351 267009 6.95 0 Extracellular space Hemophilia A PE1 X +NX_P00480 354 39935 8.75 0 Mitochondrion;Mitochondrion matrix Ornithine carbamoyltransferase deficiency PE1 X +NX_P00488 732 83267 5.75 0 Cytoplasm;Secreted Factor XIII subunit A deficiency PE1 6 +NX_P00491 289 32118 6.45 0 Cytoskeleton;Cytoplasm Purine nucleoside phosphorylase deficiency PE1 14 +NX_P00492 218 24579 6.21 0 Nucleus;Cytoplasm;Cytosol;Cytoplasm Gout HPRT-related;Lesch-Nyhan syndrome PE1 X +NX_P00505 430 47518 9.14 0 Mitochondrion matrix;Cell membrane NA PE1 16 +NX_P00519 1130 122873 8.84 0 Nucleus;Cytoskeleton;Nucleus;Nucleoplasm;Nucleus membrane;Mitochondrion Congenital heart defects and skeletal malformations syndrome;Leukemia, chronic myeloid PE1 9 +NX_P00533 1210 134277 6.26 1 Nucleus;Cell membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane;Secreted;Nucleus membrane;Endosome;Endosome membrane Lung cancer;Inflammatory skin and bowel disease, neonatal, 2 PE1 7 +NX_P00540 346 37820 9.15 0 NA NA PE1 8 +NX_P00558 417 44615 8.3 0 Cytoplasm;Cytoplasm Phosphoglycerate kinase 1 deficiency PE1 X +NX_P00568 194 21635 8.73 0 Cytoplasm;Cytosol Hemolytic anemia due to adenylate kinase deficiency PE1 9 +NX_P00709 142 16225 4.83 0 Secreted NA PE1 12 +NX_P00734 622 70037 5.64 0 Extracellular space Ischemic stroke;Thrombophilia due to thrombin defect;Factor II deficiency;Pregnancy loss, recurrent, 2 PE1 11 +NX_P00736 705 80119 5.82 0 Cytosol;Nucleoplasm;Secreted Ehlers-Danlos syndrome, periodontal type, 1 PE1 12 +NX_P00738 406 45205 6.13 0 Secreted Anhaptoglobinemia PE1 16 +NX_P00739 348 39030 6.63 0 Secreted NA PE1 16 +NX_P00740 461 51778 5.34 0 Secreted Hemophilia B;Thrombophilia, X-linked, due to factor IX defect PE1 X +NX_P00742 488 54732 5.68 0 Secreted Factor X deficiency PE1 13 +NX_P00746 253 27033 7.65 0 Cell membrane;Secreted Complement factor D deficiency PE1 19 +NX_P00747 810 90569 7.04 0 Secreted Plasminogen deficiency PE1 6 +NX_P00748 615 67792 8.04 0 Secreted Factor XII deficiency;Hereditary angioedema 3 PE1 5 +NX_P00749 431 48507 8.78 0 Secreted;Cytosol;Cell membrane Quebec platelet disorder PE1 10 +NX_P00750 562 62917 8.14 0 Cytoskeleton;Extracellular space NA PE1 8 +NX_P00751 764 85533 6.67 0 Cytoplasmic vesicle;Cell junction;Secreted Hemolytic uremic syndrome atypical 4;Complement factor B deficiency PE1 6 +NX_P00797 406 45057 6.61 0 Secreted;Membrane Renal tubular dysgenesis;Familial juvenile hyperuricemic nephropathy 2 PE1 1 +NX_P00813 363 40764 5.63 0 Cell membrane;Cell junction;Cytoplasmic vesicle lumen;Cytoplasm;Lysosome Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency PE1 20 +NX_P00846 226 24817 10.09 6 Mitochondrion inner membrane Leigh syndrome;Myopathy, lactic acidosis, and sideroblastic anemia 3;Neuropathy, ataxia, and retinitis pigmentosa;Mitochondrial infantile bilateral striatal necrosis;Mitochondrial complex V deficiency, mitochondrial 1;Leber hereditary optic neuropathy;Ataxia and polyneuropathy, adult-onset;Cardiomyopathy, infantile hypertrophic PE1 MT +NX_P00915 261 28870 6.59 0 Cytoplasm NA PE1 8 +NX_P00918 260 29246 6.87 0 Cell membrane;Cytoplasm Osteopetrosis, autosomal recessive 3 PE1 8 +NX_P00966 412 46530 8.08 0 Nucleoplasm;Cytosol;Cytosol Citrullinemia 1 PE1 9 +NX_P00973 400 46029 8.51 0 Mitochondrion;Cytoplasm;Cytosol;Nucleus;Secreted;Microsome;Endoplasmic reticulum NA PE1 12 +NX_P00995 79 8507 7.54 0 Secreted Tropical calcific pancreatitis;Pancreatitis, hereditary PE1 5 +NX_P01008 464 52602 6.32 0 Extracellular space Antithrombin III deficiency PE1 1 +NX_P01009 418 46737 5.37 0 Extracellular matrix;Cytoplasmic vesicle;Endoplasmic reticulum;Secreted Alpha-1-antitrypsin deficiency PE1 14 +NX_P01011 423 47651 5.33 0 Secreted NA PE1 14 +NX_P01019 485 53154 5.87 0 Secreted Essential hypertension;Renal tubular dysgenesis PE1 1 +NX_P01023 1474 163291 6.03 0 Secreted NA PE1 12 +NX_P01024 1663 187148 6.02 0 Secreted Hemolytic uremic syndrome atypical 5;Macular degeneration, age-related, 9;Complement component 3 deficiency PE1 19 +NX_P01031 1676 188305 6.11 0 Secreted Complement component 5 deficiency PE1 9 +NX_P01033 207 23171 8.46 0 Golgi apparatus;Secreted NA PE1 X +NX_P01034 146 15799 9 0 Cytoplasmic vesicle;Secreted;Golgi apparatus Macular degeneration, age-related, 11;Amyloidosis 6 PE1 20 +NX_P01036 141 16214 4.95 0 Secreted NA PE1 20 +NX_P01037 141 16388 6.73 0 Secreted NA PE1 20 +NX_P01040 98 11006 5.38 0 Cytosol;Nucleus;Cytoplasm Peeling skin syndrome 4 PE1 3 +NX_P01042 644 71957 6.34 0 Extracellular space High molecular weight kininogen deficiency PE1 3 +NX_P01100 380 40695 4.77 0 Nucleus;Nucleoplasm;Endoplasmic reticulum;Cytosol NA PE1 14 +NX_P01106 439 48804 5.33 0 Nucleoplasm;Nucleolus;Nucleoplasm Burkitt lymphoma PE1 8 +NX_P01111 189 21229 5.01 0 Cell membrane;Golgi apparatus membrane Melanosis, neurocutaneous;Leukemia, juvenile myelomonocytic;Noonan syndrome 6;Melanocytic nevus syndrome, congenital;Keratinocytic non-epidermolytic nevus;Thyroid cancer, non-medullary, 2;RAS-associated autoimmune leukoproliferative disorder PE1 1 +NX_P01112 189 21298 5.16 0 Perinuclear region;Nucleus;Cytoplasm;Golgi apparatus membrane;Golgi apparatus;Cell membrane;Cell membrane Congenital myopathy with excess of muscle spindles;Costello syndrome;Schimmelpenning-Feuerstein-Mims syndrome;Bladder cancer;Thyroid cancer, non-medullary, 2 PE1 11 +NX_P01116 189 21656 6.33 0 Cytosol;Cell membrane Leukemia, juvenile myelomonocytic;Cardiofaciocutaneous syndrome 2;Leukemia, acute myelogenous;Gastric cancer;Noonan syndrome 3 PE1 12 +NX_P01127 241 27283 9.39 0 Cytoplasmic vesicle;Secreted Basal ganglia calcification, idiopathic, 5 PE1 22 +NX_P01130 860 95376 4.86 1 Late endosome;Lysosome;Cell membrane;Clathrin-coated pit;Golgi apparatus;Early endosome Familial hypercholesterolemia PE1 19 +NX_P01133 1207 133994 5.53 1 Membrane Hypomagnesemia 4 PE1 4 +NX_P01135 160 17006 7.51 1 Cell membrane;Extracellular space;Cytoplasmic vesicle NA PE1 2 +NX_P01137 390 44341 8.83 0 Cytosol;Extracellular matrix Camurati-Engelmann disease PE1 19 +NX_P01138 241 26959 9.94 0 Secreted Neuropathy, hereditary sensory and autonomic, 5 PE1 1 +NX_P01148 92 10380 6.1 0 Secreted Hypogonadotropic hypogonadism 12 with or without anosmia PE1 8 +NX_P01160 153 16708 6.59 0 Secreted Atrial fibrillation, familial, 6;Atrial standstill 2 PE1 1 +NX_P01178 125 12722 5.72 0 Secreted NA PE1 20 +NX_P01185 164 17325 5.2 0 Secreted Diabetes insipidus, neurohypophyseal PE1 20 +NX_P01189 267 29424 7.57 0 Secreted Obesity;Pro-opiomelanocortinin deficiency PE1 2 +NX_P01210 267 30787 5.44 0 Secreted NA PE1 8 +NX_P01213 254 28385 6.07 0 Secreted Spinocerebellar ataxia 23 PE1 20 +NX_P01215 116 13075 8.54 0 Secreted NA PE1 6 +NX_P01222 138 15639 7.92 0 Secreted NA PE1 1 +NX_P01225 129 14700 6.77 0 Secreted Hypogonadotropic hypogonadism 24 without anosmia PE1 11 +NX_P01229 141 15345 8 0 Secreted Hypogonadotropic hypogonadism 23 without anosmia PE1 19 +NX_P01236 227 25876 6.5 0 Secreted;Cytosol NA PE1 6 +NX_P01241 217 24847 5.29 0 Secreted Growth hormone deficiency, isolated, 1A;Growth hormone deficiency, isolated, 2;Growth hormone deficiency, isolated, 1B;Kowarski syndrome PE1 17 +NX_P01242 217 25000 7.59 0 Secreted NA PE1 17 +NX_P01258 141 15466 6.06 0 Secreted NA PE1 11 +NX_P01266 2768 304790 5.4 0 Secreted Autoimmune thyroid disease 3;Thyroid dyshormonogenesis 3 PE1 8 +NX_P01270 115 12861 9.72 0 Secreted Hypoparathyroidism, familial isolated PE1 11 +NX_P01275 180 20909 5.85 0 Golgi apparatus;Secreted;Cytoplasmic vesicle NA PE1 2 +NX_P01282 170 19169 6.15 0 Endoplasmic reticulum;Secreted NA PE1 6 +NX_P01286 108 12447 10.54 0 Secreted NA PE1 20 +NX_P01298 95 10445 6.71 0 Secreted NA PE1 17 +NX_P01303 97 10851 6.57 0 Golgi apparatus;Secreted NA PE1 7 +NX_P01308 110 11981 5.22 0 Secreted Diabetes mellitus, permanent neonatal;Maturity-onset diabetes of the young 10;Diabetes mellitus, insulin-dependent, 2;Hyperproinsulinemia PE1 11 +NX_P01344 180 20140 9.5 0 Nucleoplasm;Cytoplasmic vesicle;Secreted Growth restriction, severe, with distinctive facies;Silver-Russell syndrome PE1 11 +NX_P01350 101 11394 5.08 0 Secreted NA PE1 17 +NX_P01374 205 22297 9.1 0 Membrane;Secreted Psoriatic arthritis PE1 6 +NX_P01375 233 25644 6.44 1 Secreted;Membrane;Secreted;Secreted;Cell membrane Psoriatic arthritis PE1 6 +NX_P01562 189 21725 5.32 0 Secreted NA PE1 9 +NX_P01563 188 21550 6.32 0 Secreted NA PE1 9 +NX_P01566 189 21835 5.97 0 Secreted NA PE1 9 +NX_P01567 189 22107 6.44 0 Secreted NA PE1 9 +NX_P01568 189 21741 6.33 0 Secreted NA PE1 9 +NX_P01569 189 21942 5.68 0 Secreted NA PE1 9 +NX_P01570 189 22063 6.83 0 Secreted NA PE1 9 +NX_P01571 189 21728 5.68 0 Secreted NA PE1 9 +NX_P01574 187 22294 8.93 0 Secreted NA PE1 9 +NX_P01579 166 19348 9.5 0 Secreted Aplastic anemia PE1 12 +NX_P01583 271 30607 5.04 0 Secreted NA PE1 2 +NX_P01584 269 30748 4.7 0 Cytosol;Lysosome;Exosome;Secreted NA PE1 2 +NX_P01588 193 21307 8.3 0 Secreted Microvascular complications of diabetes 2 PE1 7 +NX_P01589 272 30819 6.11 1 Membrane Immunodeficiency 41 with lymphoproliferation and autoimmunity;Diabetes mellitus, insulin-dependent, 10 PE1 10 +NX_P01591 159 18099 5.12 0 Secreted NA PE1 4 +NX_P01593 117 12848 4.53 0 Cell membrane;Secreted NA PE1 2 +NX_P01594 117 12848 4.53 0 Secreted;Cell membrane NA PE1 2 +NX_P01597 117 12737 8.91 0 Secreted;Cell membrane NA PE1 2 +NX_P01599 117 12779 8.93 0 Cell membrane;Secreted NA PE1 2 +NX_P01601 117 12730 7.62 0 Cell membrane;Secreted NA PE1 2 +NX_P01602 117 12782 8.49 0 Secreted;Cell membrane NA PE1 2 +NX_P01611 117 12620 7.69 0 Secreted;Cell membrane NA PE1 2 +NX_P01614 121 13310 4.43 0 Secreted;Cell membrane NA PE1 2 +NX_P01615 120 12957 5.61 0 Secreted;Cell membrane NA PE1 2 +NX_P01619 116 12557 4.85 0 Secreted;Cell membrane NA PE1 2 +NX_P01624 115 12496 5.14 0 Secreted;Cell membrane NA PE1 2 +NX_P01699 117 12201 4.94 0 Cell membrane;Secreted NA PE1 22 +NX_P01700 117 12284 5.55 0 Secreted;Cell membrane NA PE1 22 +NX_P01701 117 12249 6.5 0 Secreted;Cell membrane NA PE1 22 +NX_P01703 118 12302 5.39 0 Cell membrane;Secreted NA PE1 22 +NX_P01704 120 12597 6 0 Secreted;Cell membrane NA PE1 22 +NX_P01705 113 11893 5.59 0 Secreted;Cell membrane NA PE1 22 +NX_P01706 119 12644 6.69 0 Cell membrane;Secreted NA PE1 22 +NX_P01709 118 12382 5.59 0 Secreted;Cell membrane NA PE1 22 +NX_P01714 112 12042 4.76 0 Secreted;Cell membrane NA PE1 22 +NX_P01715 115 12296 4.75 0 Secreted;Cell membrane NA PE1 22 +NX_P01717 112 12011 4.37 0 Secreted;Cell membrane NA PE1 22 +NX_P01718 113 12165 4.89 0 Secreted;Cell membrane NA PE1 22 +NX_P01721 117 12566 4.59 0 Secreted;Cell membrane NA PE1 22 +NX_P01730 458 51111 9.6 1 Cell membrane;Cell membrane NA PE1 12 +NX_P01732 235 25729 9.64 1 Cell membrane;Secreted CD8 deficiency, familial PE1 2 +NX_P01733 135 15097 6.26 0 NA NA PE1 7 +NX_P01737 135 14708 7.79 0 NA NA PE1 14 +NX_P01742 117 12659 9.26 0 Secreted;Cell membrane NA PE1 14 +NX_P01743 117 12933 9.1 0 Secreted;Cell membrane NA PE1 14 +NX_P01762 117 12909 8.82 0 Secreted;Cell membrane NA PE1 14 +NX_P01763 117 12813 5.31 0 Secreted;Cell membrane NA PE1 14 +NX_P01764 117 12582 8.49 0 Secreted;Cell membrane NA PE1 14 +NX_P01766 116 12506 6.54 0 Cell membrane;Secreted NA PE1 14 +NX_P01767 116 12770 8.49 0 Secreted;Cell membrane NA PE1 14 +NX_P01768 117 12947 9.1 0 Secreted;Cell membrane NA PE1 14 +NX_P01772 117 13074 9.12 0 Secreted;Cell membrane NA PE1 14 +NX_P01780 117 12943 6.21 0 Secreted;Cell membrane NA PE1 14 +NX_P01782 118 12945 6.55 0 Secreted;Cell membrane NA PE1 14 +NX_P01814 119 13260 6.1 0 Secreted;Cell membrane NA PE1 14 +NX_P01817 119 13231 8.49 0 Secreted;Cell membrane NA PE1 14 +NX_P01824 125 13917 9.35 0 Secreted;Cell membrane NA PE1 14 +NX_P01825 116 12936 9.36 0 Secreted;Cell membrane NA PE1 14 +NX_P01833 764 83284 5.59 1 Nucleolus;Cytosol;Nucleus;Cell membrane;Secreted NA PE1 1 +NX_P01834 107 11765 6.11 0 Secreted;Cell membrane Immunoglobulin kappa light chain deficiency PE1 2 +NX_P01848 142 15928 4.58 1 Membrane Immunodeficiency 7 PE1 14 +NX_P01850 177 19899 5.56 1 Membrane NA PE1 7 +NX_P01854 428 47019 8.39 0 Secreted;Cell membrane NA PE1 14 +NX_P01857 330 36106 8.46 0 Secreted;Cell membrane Multiple myeloma PE1 14 +NX_P01859 326 35901 7.66 0 Secreted;Cell membrane NA PE1 14 +NX_P01860 377 41287 8.23 0 Secreted;Cell membrane NA PE1 14 +NX_P01861 327 35941 7.18 0 Secreted;Cell membrane NA PE1 14 +NX_P01871 453 49440 6.35 0 Cell membrane;Secreted Agammaglobulinemia 1, autosomal recessive PE1 14 +NX_P01876 353 37655 6.08 0 Cell membrane;Secreted NA PE1 14 +NX_P01877 340 36591 5.86 0 Cell membrane;Secreted NA PE1 14 +NX_P01880 384 42353 8.38 0 Secreted;Cell membrane NA PE1 14 +NX_P01889 362 40460 5.57 1 Membrane NA PE1 6 +NX_P01891 365 40909 6.22 1 Membrane NA PE1 6 +NX_P01892 365 40922 6.5 1 Membrane NA PE1 6 +NX_P01893 362 40892 5.91 1 Cell membrane NA PE5 6 +NX_P01903 254 28607 4.91 1 trans-Golgi network membrane;Late endosome membrane;Lysosome membrane;Endosome membrane;Endoplasmic reticulum membrane;Cell membrane NA PE1 6 +NX_P01906 255 28033 4.78 1 Cell membrane;Endoplasmic reticulum membrane;Endosome membrane;Lysosome membrane;trans-Golgi network membrane NA PE1 6 +NX_P01909 254 27805 5.44 1 Cell membrane;trans-Golgi network membrane;Endoplasmic reticulum membrane;Lysosome membrane;Endosome membrane NA PE1 6 +NX_P01911 266 29966 7.64 1 Lysosome membrane;Late endosome membrane;Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane NA PE1 6 +NX_P01912 266 30120 8.21 1 Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane;Late endosome membrane NA PE1 6 +NX_P01920 261 29991 6.76 1 Golgi apparatus;Lysosome membrane;trans-Golgi network membrane;Endosome membrane;Endoplasmic reticulum membrane;Cell membrane NA PE1 6 +NX_P02008 142 15637 7.94 0 NA NA PE1 16 +NX_P02042 147 16055 7.84 0 NA NA PE1 11 +NX_P02100 147 16203 8.67 0 NA NA PE1 11 +NX_P02144 154 17184 7.14 0 NA NA PE1 22 +NX_P02452 1464 138941 5.6 0 Cytosol;Cytoplasmic vesicle;Extracellular matrix Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome 7A;Osteoporosis;Osteogenesis imperfecta 4;Osteogenesis imperfecta 1;Osteogenesis imperfecta 3;Osteogenesis imperfecta 2;Caffey disease PE1 17 +NX_P02458 1487 141785 6.58 0 Nucleoplasm;Extracellular matrix Spondyloperipheral dysplasia;Platyspondylic lethal skeletal dysplasia Torrance type;Spondyloepiphyseal dysplasia congenital type;Spondyloepimetaphyseal dysplasia, Strudwick type;Legg-Calve-Perthes disease;Kniest dysplasia;Osteoarthritis with mild chondrodysplasia;Avascular necrosis of femoral head, primary, 1;Czech dysplasia;Rhegmatogenous retinal detachment autosomal dominant;Spondyloepiphyseal dysplasia, Stanescu type;Stickler syndrome 1;Stickler syndrome 1 non-syndromic ocular;Achondrogenesis 2;Multiple epiphyseal dysplasia with myopia and conductive deafness PE1 12 +NX_P02461 1466 138564 6.21 0 Extracellular matrix Ehlers-Danlos syndrome 3;Ehlers-Danlos syndrome 4 PE1 2 +NX_P02462 1669 160615 8.55 0 Cytosol;Nucleoplasm;Basement membrane Hereditary angiopathy with nephropathy aneurysms and muscle cramps;Brain small vessel disease with or without ocular anomalies;Schizencephaly;Porencephaly 1;Intracerebral hemorrhage;Tortuosity of retinal arteries PE1 13 +NX_P02489 173 19909 5.77 0 Nucleus;Cytosol;Nucleoplasm;Cytoplasm Cataract 9, multiple types PE1 21 +NX_P02511 175 20159 6.76 0 Cell membrane;Cytosol;Nucleus;Cytoplasm Cataract 16, multiple types;Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related;Myopathy, myofibrillar, 2;Cardiomyopathy, dilated 1II PE1 11 +NX_P02533 472 51561 5.09 0 Nucleus;Cytoplasm Epidermolysis bullosa simplex, Weber-Cockayne type;Dermatopathia pigmentosa reticularis;Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, autosomal recessive 1;Epidermolysis bullosa simplex, Dowling-Meara type;Naegeli-Franceschetti-Jadassohn syndrome PE1 17 +NX_P02538 564 60045 8.09 0 NA Pachyonychia congenita 3 PE1 12 +NX_P02545 664 74139 6.57 0 Nucleus;Nucleus;Nucleus envelope;Nucleus lamina;Nucleoplasm;Nucleus speckle Cardiomyopathy, dilated 1A;Emery-Dreifuss muscular dystrophy 3, autosomal recessive;Mandibuloacral dysplasia with type A lipodystrophy;Lipodystrophy, familial partial, 2;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Cardiomyopathy, dilated, with hypergonadotropic hypogonadism;Lethal tight skin contracture syndrome;Hutchinson-Gilford progeria syndrome;Limb-girdle muscular dystrophy 1B;Heart-hand syndrome Slovenian type;Muscular dystrophy congenital LMNA-related;Charcot-Marie-Tooth disease 2B1 PE1 1 +NX_P02549 2419 280014 4.95 0 Cytoskeleton;Cell cortex Spherocytosis 3;Elliptocytosis 2;Hereditary pyropoikilocytosis PE1 1 +NX_P02585 160 18122 4.06 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle NA PE1 20 +NX_P02647 267 30778 5.56 0 Cytosol;Secreted;Cytoplasmic vesicle High density lipoprotein deficiency 1;High density lipoprotein deficiency 2;Amyloidosis 8 PE1 11 +NX_P02649 317 36154 5.65 0 Cytoplasmic vesicle;Secreted Hyperlipoproteinemia 3;Familial hypercholesterolemia;Sea-blue histiocyte disease;Alzheimer disease 2;Lipoprotein glomerulopathy PE1 19 +NX_P02652 100 11175 6.27 0 Secreted NA PE1 1 +NX_P02654 83 9332 8.01 0 Endoplasmic reticulum;Secreted NA PE1 19 +NX_P02655 101 11284 4.72 0 Secreted Hyperlipoproteinemia 1B PE1 19 +NX_P02656 99 10852 5.23 0 Secreted Hyperalphalipoproteinemia 2 PE1 11 +NX_P02671 866 94973 5.7 0 Secreted Congenital afibrinogenemia;Dysfibrinogenemia, congenital;Amyloidosis 8 PE1 4 +NX_P02675 491 55928 8.54 0 Secreted Congenital afibrinogenemia;Dysfibrinogenemia, congenital PE1 4 +NX_P02679 453 51512 5.37 0 Secreted Congenital afibrinogenemia;Dysfibrinogenemia, congenital PE1 4 +NX_P02686 304 33117 9.79 0 Cell membrane;Nucleus;Myelin membrane NA PE1 18 +NX_P02689 132 14909 9.84 0 Cytoplasm NA PE1 8 +NX_P02708 482 54546 5.78 4 Cell membrane;Cell membrane;Postsynaptic cell membrane Myasthenic syndrome, congenital, 1B, fast-channel;Myasthenic syndrome, congenital, 1A, slow-channel;Multiple pterygium syndrome, lethal type PE1 2 +NX_P02724 150 16331 5.29 1 Cell membrane NA PE1 4 +NX_P02730 911 101792 5.08 10 Basolateral cell membrane;Cell membrane Spherocytosis 4;Renal tubular acidosis, distal, with hemolytic anemia;Ovalocytosis, Southeast Asian;Cryohydrocytosis;Renal tubular acidosis, distal, autosomal dominant;Renal tubular acidosis, distal, with normal red cell morphology PE1 17 +NX_P02741 224 25039 5.45 0 Secreted NA PE1 1 +NX_P02743 223 25387 6.1 0 Secreted NA PE1 1 +NX_P02745 245 26017 9.26 0 Secreted;Golgi apparatus;Cytosol Complement component C1q deficiency PE1 1 +NX_P02746 253 26722 8.83 0 Secreted Complement component C1q deficiency PE1 1 +NX_P02747 245 25774 8.61 0 Secreted;Cytoplasmic vesicle Complement component C1q deficiency PE1 1 +NX_P02748 559 63173 5.43 0 Secreted;Target cell membrane;Cell membrane;Cytosol Macular degeneration, age-related, 15;Complement component 9 deficiency PE1 5 +NX_P02749 345 38298 8.34 0 Golgi apparatus;Secreted NA PE1 17 +NX_P02750 347 38178 6.45 0 Cytoplasmic vesicle;Secreted NA PE1 19 +NX_P02751 2386 262625 5.46 0 Extracellular matrix Glomerulopathy with fibronectin deposits 2 PE1 2 +NX_P02753 201 23010 5.76 0 Secreted Microphthalmia, isolated, with coloboma, 10;Retinal dystrophy, iris coloboma, and comedogenic acne syndrome PE1 10 +NX_P02760 352 38999 5.95 0 Secreted NA PE1 9 +NX_P02763 201 23512 4.93 0 Secreted NA PE1 9 +NX_P02765 367 39325 5.43 0 Golgi apparatus;Secreted NA PE1 3 +NX_P02766 147 15887 5.52 0 Golgi apparatus;Secreted;Cytoplasm Carpal tunnel syndrome 1;Amyloidosis, transthyretin-related;Hyperthyroxinemia, dystransthyretinemic PE1 18 +NX_P02768 609 69367 5.92 0 Golgi apparatus;Endoplasmic reticulum;Secreted Hyperthyroxinemia, familial dysalbuminemic;Analbuminemia PE1 4 +NX_P02771 609 68678 5.48 0 Secreted;Cytosol Alpha-fetoprotein deficiency;Alpha-fetoprotein, hereditary persistence PE1 4 +NX_P02774 474 52964 5.4 0 Secreted NA PE1 4 +NX_P02775 128 13894 9.04 0 Secreted NA PE1 4 +NX_P02776 101 10845 8.93 0 Secreted NA PE1 4 +NX_P02778 98 10881 9.93 0 Secreted NA PE1 4 +NX_P02786 760 84871 6.18 1 Endosome;Lysosome;Cell membrane;Melanosome;Secreted Immunodeficiency 46 PE1 3 +NX_P02787 698 77064 6.81 0 Mitochondrion;Secreted Atransferrinemia PE1 3 +NX_P02788 710 78182 8.5 0 Secreted;Cytoplasmic granule;Nucleus;Cytoplasm NA PE1 3 +NX_P02790 462 51676 6.55 0 Secreted NA PE1 11 +NX_P02792 175 20020 5.51 0 Cytosol Hyperferritinemia with or without cataract;Neurodegeneration with brain iron accumulation 3;L-ferritin deficiency PE1 19 +NX_P02794 183 21226 5.31 0 Cytoskeleton Hemochromatosis 5 PE1 11 +NX_P02795 61 6042 8.23 0 Nucleus;Nucleolus NA PE1 16 +NX_P02808 62 7304 8.01 0 Secreted NA PE1 4 +NX_P02810 166 17016 4.63 0 Secreted NA PE1 12 +NX_P02812 416 40799 11.63 0 Secreted NA PE1 12 +NX_P02814 79 8188 9.62 0 Secreted NA PE1 4 +NX_P02818 100 10963 6.56 0 Secreted NA PE1 1 +NX_P03372 595 66216 8.3 0 Nucleus;Cytoplasmic vesicle;Nucleus;Cell membrane;Cytoplasm;Cell membrane;Golgi apparatus;Cell membrane Estrogen resistance PE1 6 +NX_P03886 318 35661 6.11 8 Mitochondrion inner membrane Leber hereditary optic neuropathy;Alzheimer disease mitochondrial;Mitochondrial complex I deficiency;Diabetes mellitus, non-insulin-dependent;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome PE1 MT +NX_P03891 347 38961 9.84 10 Mitochondrion inner membrane Alzheimer disease mitochondrial;Leber hereditary optic neuropathy PE1 MT +NX_P03897 115 13186 4.45 3 Mitochondrion membrane;Cytosol Mitochondrial complex I deficiency;Leigh syndrome PE1 MT +NX_P03901 98 10741 5.73 3 Mitochondrion membrane;Mitochondrion Leber hereditary optic neuropathy PE1 MT +NX_P03905 459 51581 9.4 11 Mitochondrion membrane Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Leber hereditary optic neuropathy;Leber hereditary optic neuropathy with dystonia PE1 MT +NX_P03915 603 67027 9.14 15 Mitochondrion inner membrane Mitochondrial complex I deficiency;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Leber hereditary optic neuropathy;Leigh syndrome PE1 MT +NX_P03923 174 18622 4.18 6 Mitochondrion membrane Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Leber hereditary optic neuropathy with dystonia;Mitochondrial complex I deficiency;Leber hereditary optic neuropathy PE1 MT +NX_P03928 68 7992 9.92 1 Mitochondrion membrane Mitochondrial complex V deficiency, mitochondrial 2;Cardiomyopathy, infantile hypertrophic PE1 MT +NX_P03950 147 16550 9.73 0 Secretory vesicle lumen;Secreted;Nucleus;Nucleolus Amyotrophic lateral sclerosis 9 PE1 14 +NX_P03951 625 70109 8.47 0 Cytoplasmic vesicle;Secreted Factor XI deficiency PE1 4 +NX_P03952 638 71370 8.6 0 Secreted Prekallikrein deficiency PE1 4 +NX_P03956 469 54007 6.47 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 11 +NX_P03971 560 59195 7.04 0 Secreted Persistent Muellerian duct syndrome 1 PE1 19 +NX_P03973 132 14326 9.11 0 Secreted;Golgi apparatus NA PE1 20 +NX_P03979 118 13664 8.97 0 NA NA PE2 7 +NX_P03986 189 21554 5.42 1 Membrane NA PE1 7 +NX_P03989 362 40428 5.54 1 Membrane Spondyloarthropathy 1 PE1 6 +NX_P03999 348 39135 8.91 7 Membrane Tritan color blindness PE1 7 +NX_P04000 364 40572 8.89 7 Membrane Colorblindness, partial, protan series;Blue cone monochromacy PE1 X +NX_P04001 364 40584 8.9 7 Cell membrane Cone dystrophy 5;Blue cone monochromacy;Colorblindness, partial, deutan series PE1 X +NX_P04003 597 67033 7.15 0 Secreted NA PE1 1 +NX_P04004 478 54306 5.55 0 Endoplasmic reticulum;Cytoplasmic vesicle;Extracellular space NA PE1 17 +NX_P04035 888 97476 6.33 7 Endoplasmic reticulum membrane NA PE1 5 +NX_P04040 527 59756 6.9 0 Peroxisome;Cytoplasmic vesicle;Cytosol Acatalasemia PE1 11 +NX_P04049 648 73052 9.33 0 Nucleus speckle;Nucleus;Cytoplasm;Mitochondrion;Cell membrane Cardiomyopathy, dilated 1NN;Noonan syndrome 5;LEOPARD syndrome 2 PE1 3 +NX_P04053 509 58536 8.66 0 Nucleus;Nucleoplasm;Cytosol NA PE1 10 +NX_P04054 148 16360 8.16 0 Cytosol;Secreted NA PE1 12 +NX_P04062 536 59716 7.29 0 Lysosome membrane Gaucher disease 3C;Gaucher disease 2;Gaucher disease 1;Gaucher disease 3;Parkinson disease;Gaucher disease;Gaucher disease perinatal lethal PE1 1 +NX_P04066 466 53689 6.37 0 Lysosome Fucosidosis PE1 1 +NX_P04070 461 52071 5.85 0 Endoplasmic reticulum;Secreted;Golgi apparatus Thrombophilia due to protein C deficiency, autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive PE1 2 +NX_P04075 364 39420 8.3 0 Nucleus;Cytosol;I band;M line Glycogen storage disease 12 PE1 16 +NX_P04080 98 11140 6.96 0 Nucleolus;Cytosol;Cytoplasm;Nucleus Epilepsy, progressive myoclonic 1 PE1 21 +NX_P04083 346 38714 6.57 0 Cytoplasm;Cell membrane;Cytoplasmic vesicle membrane;Cytoplasm;Cilium;Cell membrane;Cytosol;Secreted;Extracellular space;Cell membrane;Exosome;Secretory vesicle lumen;Nucleus;Membrane;Endosome membrane;Basolateral cell membrane;Apical cell membrane;Lateral cell membrane;Cell membrane;Early endosome;Phagocytic cup;Nucleoplasm NA PE1 9 +NX_P04085 211 24043 9.52 0 Microtubule organizing center;Secreted;Cytoplasmic vesicle NA PE1 7 +NX_P04090 185 21043 8.88 0 Secreted NA PE1 9 +NX_P04114 4563 515605 6.58 0 Cytoplasmic vesicle;Cytosol;Secreted;Cytoplasm Hypobetalipoproteinemia, familial, 1;Familial ligand-defective apolipoprotein B-100 PE1 2 +NX_P04118 112 11954 7.48 0 Secreted NA PE1 6 +NX_P04141 144 16295 5.21 0 Secreted;Cytoplasmic vesicle NA PE1 5 +NX_P04150 777 85659 6 0 Cytosol;Cytoplasm;Centrosome;Mitochondrion;Nucleoplasm;Spindle;Nucleus;Mitochondrion Glucocorticoid resistance, generalized PE1 5 +NX_P04155 84 9150 4.29 0 Secreted NA PE1 21 +NX_P04156 253 27661 9.13 0 Cytosol;Cell membrane;Golgi apparatus;Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleus membrane Huntington disease-like 1;Spongiform encephalopathy with neuropsychiatric features;Fatal familial insomnia;Kuru;Gerstmann-Straussler disease;Creutzfeldt-Jakob disease PE1 20 +NX_P04179 222 24722 8.35 0 Mitochondrion matrix Microvascular complications of diabetes 6 PE1 6 +NX_P04180 440 49578 5.71 0 Secreted;Nucleoplasm Fish-eye disease;Lecithin-cholesterol acyltransferase deficiency PE1 16 +NX_P04181 439 48535 6.57 0 Mitochondrion;Nucleoplasm;Mitochondrion matrix Hyperornithinemia with gyrate atrophy of choroid and retina PE1 10 +NX_P04183 234 25469 8.85 0 Cytoplasm NA PE1 17 +NX_P04196 525 59578 7.09 0 Secreted Thrombophilia due to histidine-rich glycoprotein deficiency PE1 3 +NX_P04198 464 49561 5.45 0 Nucleus;Nucleolus;Nucleus Feingold syndrome 1 PE1 2 +NX_P04201 325 37465 8.9 7 Cell membrane NA PE1 6 +NX_P04211 117 12451 6.52 0 Secreted;Cell membrane NA PE1 22 +NX_P04216 161 17935 8.96 0 Endoplasmic reticulum;Cell membrane;Nucleus;Cell membrane NA PE1 11 +NX_P04217 495 54254 5.56 0 Secreted NA PE1 19 +NX_P04222 366 40861 5.97 1 Membrane NA PE1 6 +NX_P04229 266 29914 7.61 1 Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane;Late endosome membrane Sarcoidosis 1 PE1 6 +NX_P04233 296 33516 8.72 1 Golgi apparatus;Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network;Endosome;Lysosome NA PE1 5 +NX_P04234 171 18930 5.3 1 Cell membrane Immunodeficiency 19 PE1 11 +NX_P04259 564 60067 8.09 0 NA Pachyonychia congenita 4 PE1 12 +NX_P04264 644 66039 8.15 0 Cell membrane Keratoderma, palmoplantar, non-epidermolytic;Ichthyosis annular epidermolytic;Epidermolytic hyperkeratosis;Ichthyosis hystrix, Curth-Macklin type;Keratoderma, palmoplantar, striate 3 PE1 12 +NX_P04271 92 10713 4.57 0 Cytoplasm;Nucleus;Nucleus;Cytoplasmic vesicle NA PE1 21 +NX_P04275 2813 309265 5.29 0 Extracellular matrix;Secreted von Willebrand disease 3;von Willebrand disease 1;von Willebrand disease 2 PE1 12 +NX_P04278 402 43779 6.22 0 Secreted NA PE1 17 +NX_P04279 462 52131 9.3 0 Secreted NA PE1 20 +NX_P04280 392 38546 11.22 0 Secreted NA PE1 12 +NX_P04350 444 49586 4.78 0 Cytoskeleton Leukodystrophy, hypomyelinating, 6;Dystonia 4, torsion, autosomal dominant PE1 19 +NX_P04406 335 36053 8.57 0 Cytoplasm;Cytosol;Cell membrane;Cytoskeleton;Cytosol;Nucleus;Perinuclear region;Membrane NA PE1 12 +NX_P04424 464 51658 6.04 0 Cytosol Argininosuccinic aciduria PE1 7 +NX_P04430 117 12618 8.4 0 Secreted;Cell membrane NA PE1 2 +NX_P04432 117 12737 8.91 0 Secreted;Cell membrane NA PE1 2 +NX_P04433 115 12575 4.85 0 Cell membrane;Secreted NA PE1 2 +NX_P04435 133 14999 6.89 0 NA NA PE1 7 +NX_P04436 131 14771 5.38 0 NA NA PE1 14 +NX_P04437 139 15441 8.55 0 NA NA PE1 14 +NX_P04439 365 40841 5.66 1 Membrane NA PE1 6 +NX_P04440 258 29159 8.83 1 Endosome membrane;Endoplasmic reticulum membrane;Cell membrane;Cell junction;Nucleus;Lysosome membrane;trans-Golgi network membrane NA PE1 6 +NX_P04553 51 6823 12.08 0 Nucleus;Chromosome NA PE1 16 +NX_P04554 102 13051 11.9 0 Chromosome;Nucleus NA PE1 16 +NX_P04626 1255 137910 5.58 1 Cell membrane;Cytosol;Cell membrane;Perinuclear region;Cytoplasm;Nucleus Lung cancer;Ovarian cancer;Glioma;Gastric cancer PE1 17 +NX_P04628 370 40982 9.28 0 Extracellular matrix Osteogenesis imperfecta 15;Osteogenesis imperfecta 14;Osteoporosis PE1 12 +NX_P04629 796 87497 6.17 1 Late endosome membrane;Cytosol;Cell membrane;Early endosome membrane;Cytoplasmic vesicle Congenital insensitivity to pain with anhidrosis PE1 1 +NX_P04632 268 28316 5.05 0 Cell membrane;Cytoplasm;Nucleoplasm;Cytosol NA PE1 19 +NX_P04637 393 43653 6.33 0 PML body;Endoplasmic reticulum;Mitochondrion matrix;Nucleoplasm;Cytoplasm;Nucleus Adrenocortical carcinoma;Squamous cell carcinoma of the head and neck;Basal cell carcinoma 7;Lung cancer;Li-Fraumeni syndrome;Papilloma of choroid plexus;Esophageal cancer PE1 17 +NX_P04731 61 6120 8.38 0 NA NA PE1 16 +NX_P04732 61 6014 8.38 0 NA NA PE1 16 +NX_P04733 61 6086 8.23 0 NA NA PE1 16 +NX_P04745 511 57768 6.47 0 Secreted NA PE1 1 +NX_P04746 511 57707 6.6 0 Extracellular space NA PE1 1 +NX_P04792 205 22783 5.98 0 Cytoplasm;Cell membrane;Cytosol;Cell membrane;Cytoplasm;Nucleus;Spindle Neuronopathy, distal hereditary motor, 2B;Charcot-Marie-Tooth disease 2F PE1 7 +NX_P04798 512 58165 8.61 0 Microsome membrane;Endoplasmic reticulum membrane NA PE1 15 +NX_P04808 185 21146 8.97 0 Secreted NA PE1 9 +NX_P04818 313 35716 6.51 0 Nucleus;Cytoplasm;Mitochondrion;Mitochondrion matrix;Mitochondrion inner membrane NA PE1 18 +NX_P04839 570 65336 8.9 6 Cell membrane Granulomatous disease, chronic, X-linked;Immunodeficiency 34 PE1 X +NX_P04843 607 68569 5.96 1 Endoplasmic reticulum;Endoplasmic reticulum;Endoplasmic reticulum membrane;Melanosome NA PE1 3 +NX_P04844 631 69284 5.44 3 Endoplasmic reticulum membrane;Endoplasmic reticulum;Endoplasmic reticulum NA PE1 20 +NX_P04899 355 40451 5.34 0 Cytosol;Cytoplasm;Nucleoplasm;Centrosome;Cell membrane;Membrane;Cell membrane NA PE1 3 +NX_P04908 130 14135 11.05 0 Chromosome;Nucleoplasm;Nucleus NA PE1 6 +NX_P04920 1241 137009 5.9 10 Cytosol;Nucleus speckle;Cell membrane;Membrane NA PE1 7 +NX_P04921 128 13811 4.68 1 Cell membrane;Cytosol;Cytoplasmic vesicle NA PE1 2 +NX_P05000 195 22319 9.18 0 Secreted NA PE1 9 +NX_P05013 189 22141 6.9 0 Secreted NA PE1 9 +NX_P05014 189 21808 5.76 0 Secreted NA PE1 9 +NX_P05015 189 21711 6.31 0 Secreted NA PE2 9 +NX_P05019 195 21841 9.78 0 Secreted Insulin-like growth factor I deficiency PE1 12 +NX_P05023 1023 112896 5.33 10 Cell membrane;Sarcolemma;Melanosome NA PE1 1 +NX_P05026 303 35061 8.74 1 Cell membrane;Sarcolemma NA PE1 1 +NX_P05060 677 78276 5.02 0 Cytoplasmic vesicle;Secreted NA PE1 20 +NX_P05062 364 39473 8.01 0 Centriolar satellite Hereditary fructose intolerance PE1 9 +NX_P05067 770 86943 4.73 1 Membrane;Golgi apparatus;Cytoplasmic vesicle;Clathrin-coated pit Alzheimer disease 1;Cerebral amyloid angiopathy, APP-related PE1 21 +NX_P05089 322 34735 6.72 0 Cytoplasm;Cytoplasmic granule Argininemia PE1 6 +NX_P05090 189 21276 5.06 0 Secreted NA PE1 3 +NX_P05091 517 56381 6.63 0 Mitochondrion matrix NA PE1 12 +NX_P05093 508 57371 8.72 0 Membrane Adrenal hyperplasia 5 PE1 10 +NX_P05106 788 87058 5.09 1 Focal adhesion;Cell membrane;Lamellipodium membrane Glanzmann thrombasthenia;Bleeding disorder, platelet-type 16 PE1 17 +NX_P05107 769 84782 6.66 1 Membrane;Cytosol Leukocyte adhesion deficiency 1 PE1 21 +NX_P05108 521 60102 8.89 0 Mitochondrion membrane Adrenal insufficiency, congenital, with 46,XY sex reversal PE1 15 +NX_P05109 93 10835 6.51 0 Secreted;Cytoskeleton;Cytoplasm;Cytoskeleton;Cell membrane NA PE1 1 +NX_P05111 366 39670 8.29 0 Cytoplasmic vesicle;Secreted NA PE1 2 +NX_P05112 153 17492 9.17 0 Secreted Ischemic stroke PE1 5 +NX_P05113 134 15238 7.81 0 Secreted NA PE1 5 +NX_P05114 100 10659 9.6 0 Nucleus;Cytoplasm;Nucleus NA PE1 21 +NX_P05120 415 46596 5.46 0 Golgi apparatus;Extracellular space;Cytoplasm NA PE1 18 +NX_P05121 402 45060 6.68 0 Cytosol;Secreted Plasminogen activator inhibitor-1 deficiency PE1 7 +NX_P05129 697 78448 7.27 0 Cytoplasm;Perinuclear region;Cell membrane;Synaptosome;Dendrite Spinocerebellar ataxia 14 PE1 19 +NX_P05141 298 32852 9.71 6 Cytoplasm;Mitochondrion inner membrane NA PE1 X +NX_P05154 406 45675 9.3 0 Mitochondrion;Extracellular space NA PE1 14 +NX_P05155 500 55154 6.09 0 Secreted Hereditary angioedema PE1 11 +NX_P05156 583 65750 7.72 0 Extracellular space Macular degeneration, age-related, 13;Complement factor I deficiency;Hemolytic uremic syndrome atypical 3 PE1 4 +NX_P05160 661 75511 6.01 0 Secreted Factor XIII subunit B deficiency PE1 1 +NX_P05161 165 17888 6.83 0 Cytoplasm;Secreted Immunodeficiency 38, with basal ganglia calcification PE1 1 +NX_P05162 132 14644 5.93 0 Mitochondrion;Nucleoplasm NA PE1 22 +NX_P05164 745 83869 9.19 0 Nucleus;Cytoplasmic vesicle;Lysosome Myeloperoxidase deficiency PE1 17 +NX_P05165 728 80059 7.24 0 Mitochondrion matrix Propionic acidemia type I PE1 13 +NX_P05166 539 58216 7.56 0 Mitochondrion matrix Propionic acidemia type II PE1 3 +NX_P05177 515 58294 9.18 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 15 +NX_P05181 493 56849 8.28 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 10 +NX_P05186 524 57305 6.19 0 Cell membrane;Cytosol Hypophosphatasia childhood type;Hypophosphatasia;Hypophosphatasia infantile type PE1 1 +NX_P05187 535 57954 5.86 1 Cell membrane NA PE1 2 +NX_P05198 315 36112 5.02 0 Cytoplasmic granule;Nucleoplasm;Cytosol NA PE1 14 +NX_P05204 90 9393 10 0 Nucleus;Nucleus;Cytoplasm NA PE1 1 +NX_P05230 155 17460 6.52 0 Secreted;Cytoplasm;Cell cortex;Cytosol;Nucleus;Nucleoplasm NA PE1 5 +NX_P05231 212 23718 6.17 0 Secreted;Cytoplasmic vesicle Rheumatoid arthritis systemic juvenile PE1 7 +NX_P05305 212 24425 9.52 0 Golgi apparatus;Nucleolus;Nucleus;Secreted Question mark ears, isolated;Auriculocondylar syndrome 3 PE1 6 +NX_P05362 532 57825 8.31 1 Cell membrane;Cytosol;Membrane NA PE1 19 +NX_P05386 114 11514 4.26 0 Cytoplasm;Endoplasmic reticulum;Cytosol NA PE1 15 +NX_P05387 115 11665 4.42 0 Cytoplasm NA PE1 11 +NX_P05388 317 34274 5.72 0 Cytoplasm;Nucleus;Cytoplasm NA PE1 12 +NX_P05408 212 23730 5.62 0 Secreted NA PE1 15 +NX_P05412 331 35676 8.9 0 Nucleus;Nucleoplasm NA PE1 1 +NX_P05413 133 14858 6.29 0 Cytoplasm;Golgi apparatus NA PE1 1 +NX_P05423 398 44396 6.51 0 Nucleoplasm;Nucleus NA PE1 8 +NX_P05451 166 18731 5.65 0 Secreted NA PE1 2 +NX_P05452 202 22537 5.52 0 Secreted NA PE1 3 +NX_P05455 408 46837 6.68 0 Nucleus;Nucleoplasm NA PE1 2 +NX_P05496 136 14277 9.81 2 Mitochondrion;Mitochondrion membrane NA PE1 17 +NX_P05534 365 40689 5.91 1 Membrane NA PE1 6 +NX_P05538 268 30387 6.32 1 Cell membrane;Endoplasmic reticulum membrane;Lysosome membrane;Endosome membrane;trans-Golgi network membrane NA PE1 6 +NX_P05543 415 46325 5.87 0 Secreted NA PE1 X +NX_P05546 499 57071 6.41 0 Cytoplasmic vesicle Thrombophilia due to heparin cofactor 2 deficiency PE1 22 +NX_P05549 437 48062 8.1 0 Nucleoplasm;Nucleus Branchiooculofacial syndrome PE1 6 +NX_P05556 798 88415 5.27 1 Focal adhesion;Cell membrane;Invadopodium membrane;Ruffle membrane;Endoplasmic reticulum;Cell membrane;Cell junction;Recycling endosome;Melanosome;Cleavage furrow;Lamellipodium;Ruffle;Focal adhesion;Cell surface;Sarcolemma NA PE1 10 +NX_P05771 671 76869 6.57 0 Nucleoplasm;Cytosol;Cytoplasm;Membrane;Nucleus NA PE1 16 +NX_P05783 430 48058 5.34 0 Cytoplasm;Cytosol;Perinuclear region;Nucleolus Cirrhosis PE1 12 +NX_P05787 483 53704 5.52 0 Cytoskeleton;Cytoplasm;Nucleus matrix;Nucleoplasm;Cytoplasm;Cytoskeleton Cirrhosis PE1 12 +NX_P05813 215 25150 5.82 0 NA Cataract 10, multiple types PE1 17 +NX_P05814 226 25382 5.52 0 Secreted NA PE1 4 +NX_P05937 261 30025 4.7 0 Cytoplasmic vesicle NA PE1 8 +NX_P05976 194 21145 4.97 0 NA NA PE1 2 +NX_P05981 417 45011 7.8 1 Cell membrane;Apical cell membrane NA PE1 19 +NX_P05997 1499 144910 6.07 0 Extracellular matrix Ehlers-Danlos syndrome, classic type PE1 2 +NX_P06028 91 9782 9.43 1 Cell membrane NA PE1 4 +NX_P06126 327 37077 6.3 1 Membrane raft;Endosome membrane;Cell membrane NA PE1 1 +NX_P06127 495 54578 8.59 1 Cell membrane NA PE1 11 +NX_P06132 367 40787 5.77 0 Cytosol;Cytoplasm;Nucleoplasm Hepatoerythropoietic porphyria;Familial porphyria cutanea tarda PE1 1 +NX_P06133 528 60513 8.7 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 4 +NX_P06213 1382 156333 5.83 1 Cell membrane;Cytoplasmic vesicle Diabetes mellitus, non-insulin-dependent;Insulin-resistant diabetes mellitus with acanthosis nigricans type A;Familial hyperinsulinemic hypoglycemia 5;Leprechaunism;Rabson-Mendenhall syndrome PE1 19 +NX_P06239 509 58001 5.23 0 Golgi apparatus;Cell membrane;Cytoplasm Immunodeficiency 22 PE1 1 +NX_P06241 537 60762 6.23 0 Cytosol;Cell membrane;Cytoplasm;Nucleus;Cell membrane NA PE1 6 +NX_P06276 602 68418 7.12 0 Secreted Butyrylcholinesterase deficiency PE1 3 +NX_P06280 429 48767 5.35 0 Lysosome Fabry disease PE1 X +NX_P06307 115 12669 9.18 0 Secreted NA PE1 3 +NX_P06310 120 13185 8.71 0 Cell membrane;Secreted NA PE1 2 +NX_P06312 121 13380 5.09 0 Secreted;Cell membrane NA PE1 2 +NX_P06315 115 12728 4.21 0 Secreted;Cell membrane NA PE1 2 +NX_P06331 123 13815 9.39 0 Secreted;Cell membrane NA PE1 14 +NX_P06340 250 27599 5.57 1 Lysosome membrane;Endosome membrane NA PE1 6 +NX_P06396 782 85698 5.9 0 Secreted;Cytoskeleton;Cytoskeleton Amyloidosis 5 PE1 9 +NX_P06400 928 106159 8.13 0 Nucleoplasm;Nucleus Osteogenic sarcoma;Childhood cancer retinoblastoma;Bladder cancer PE1 13 +NX_P06401 933 98981 6.09 0 Nucleus;Cytoplasm;Mitochondrion outer membrane NA PE1 11 +NX_P06454 111 12203 3.69 0 Nucleus;Nucleus NA PE1 2 +NX_P06493 297 34095 8.38 0 Cytoplasm;Cytosol;Mitochondrion;Centrosome;Nucleus;Spindle;Nucleus NA PE1 10 +NX_P06576 529 56560 5.26 0 Mitochondrion;Mitochondrion;Mitochondrion;Mitochondrion inner membrane NA PE1 12 +NX_P06681 752 83268 7.23 0 Secreted Complement component 2 deficiency PE1 6 +NX_P06702 114 13242 5.71 0 Secreted;Nucleoplasm;Cell junction;Cytosol;Cytoskeleton;Cell membrane;Cytoplasm NA PE1 1 +NX_P06703 90 10180 5.32 0 Cytosol;Nucleus envelope;Cytoplasm;Cell membrane NA PE1 1 +NX_P06727 396 45399 5.28 0 Secreted;Cytoplasmic vesicle NA PE1 11 +NX_P06729 351 39448 9.66 1 Membrane NA PE1 1 +NX_P06730 217 25097 5.79 0 Cytosol;Cytosol;Cytoplasm;P-body;Cytoplasm Autism 19 PE1 4 +NX_P06731 702 76795 5.59 0 Cell membrane;Cell membrane NA PE1 19 +NX_P06732 381 43101 6.77 0 Cytoplasm NA PE1 19 +NX_P06733 434 47169 7.01 0 Nucleus;Cytoplasm;Cytoplasm;Cell membrane;M line;Nucleus NA PE1 1 +NX_P06734 321 36469 5.38 1 Cell membrane;Cell membrane;Secreted NA PE1 19 +NX_P06737 847 97149 6.71 0 Cytosol;Cell membrane Glycogen storage disease 6 PE1 14 +NX_P06744 558 63147 8.42 0 Cytoplasm;Secreted;Cytosol;Cell membrane;Nucleoplasm Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency PE1 19 +NX_P06746 335 38178 9.01 0 Nucleus;Cytoplasm;Cytoplasmic vesicle NA PE1 8 +NX_P06748 294 32575 4.64 0 Nucleolus;Nucleus;Nucleolus;Nucleolus;Nucleus;Nucleoplasm;Centrosome NA PE1 5 +NX_P06753 285 32950 4.68 0 Cytoskeleton;Cytoplasm;Cytoskeleton Cap myopathy 1;Myopathy, congenital, with fiber-type disproportion;Nemaline myopathy 1 PE1 1 +NX_P06756 1048 116038 5.45 1 Cytosol;Focal adhesion;Focal adhesion;Membrane NA PE1 2 +NX_P06850 196 21422 10 0 Secreted NA PE1 8 +NX_P06858 475 53162 8.37 0 Cell membrane;Cytoplasmic vesicle;Secreted Lipoprotein lipase deficiency PE1 8 +NX_P06865 529 60703 5.04 0 Lysosome GM2-gangliosidosis 1 PE1 15 +NX_P06870 262 28890 4.68 0 NA NA PE1 19 +NX_P06881 128 13898 9.5 0 Secreted NA PE1 11 +NX_P06899 126 13904 10.31 0 Chromosome;Nucleus NA PE1 6 +NX_P07093 398 44002 9.35 0 Extracellular space NA PE1 2 +NX_P07098 398 45238 6.83 0 Secreted NA PE1 10 +NX_P07099 455 52949 6.77 1 Microsome membrane;Endoplasmic reticulum membrane Familial hypercholanemia PE1 1 +NX_P07101 528 58600 5.9 0 NA Segawa syndrome autosomal recessive PE1 11 +NX_P07108 87 10044 6.12 0 Golgi apparatus;Endoplasmic reticulum NA PE1 2 +NX_P07148 127 14208 6.6 0 Nucleoplasm;Cytosol;Cytoplasm NA PE1 2 +NX_P07195 334 36638 5.71 0 Cytosol;Cytoplasm Lactate dehydrogenase B deficiency PE1 12 +NX_P07196 543 61517 4.64 0 Cytoskeleton;Nucleus speckle Charcot-Marie-Tooth disease 1F;Charcot-Marie-Tooth disease 2E PE1 8 +NX_P07197 916 102472 4.9 0 Cytosol NA PE1 8 +NX_P07199 599 65171 4.49 0 Nucleus;Nucleus;Centromere NA PE1 20 +NX_P07202 933 102963 6.32 1 Cell surface;Membrane Thyroid dyshormonogenesis 2A PE1 2 +NX_P07203 203 22088 6.15 0 Cytoplasm;Cytosol NA PE1 3 +NX_P07204 575 60329 4.78 1 Membrane;Cytosol;Nucleoplasm Thrombophilia due to thrombomodulin defect;Hemolytic uremic syndrome atypical 6 PE1 20 +NX_P07205 417 44796 8.74 0 Cytoplasm NA PE1 6 +NX_P07225 676 75123 5.48 0 Secreted Thrombophilia due to protein S deficiency, autosomal recessive;Thrombophilia due to protein S deficiency, autosomal dominant PE1 3 +NX_P07237 508 57116 4.76 0 Endoplasmic reticulum;Endoplasmic reticulum;Endoplasmic reticulum lumen;Melanosome;Cell membrane Cole-Carpenter syndrome 1 PE1 17 +NX_P07288 261 28741 7.61 0 Secreted NA PE1 19 +NX_P07305 194 20863 10.84 0 Nucleus;Chromosome;Cytoskeleton;Nucleus;Golgi apparatus;Nucleus NA PE1 22 +NX_P07306 291 33186 5.28 1 Cell junction;Cytoplasmic vesicle;Membrane;Secreted NA PE1 17 +NX_P07307 311 35092 5.81 1 Endoplasmic reticulum;Cell membrane;Membrane NA PE1 17 +NX_P07311 99 11261 9.3 0 Cytosol;Nucleus NA PE1 14 +NX_P07315 174 20879 6.88 0 NA Cataract 2, multiple types PE1 2 +NX_P07316 175 20908 6.88 0 NA Cataract 39, multiple types PE1 2 +NX_P07320 174 20738 7 0 NA Cataract 4, multiple types PE1 2 +NX_P07327 375 39859 8.26 0 Cytoplasm NA PE1 4 +NX_P07332 822 93497 6.27 0 Cytosol;Cytosol;Nucleus;Cytoplasmic vesicle;Golgi apparatus;Focal adhesion;Cytoskeleton;Cell membrane;Cytoplasmic vesicle NA PE1 15 +NX_P07333 972 107984 5.93 1 Cell membrane;Cell membrane;Cytoplasmic vesicle Leukoencephalopathy, diffuse hereditary, with spheroids PE1 5 +NX_P07339 412 44552 6.1 0 Lysosome;Melanosome;Extracellular space Ceroid lipofuscinosis, neuronal, 10 PE1 11 +NX_P07355 339 38604 7.57 0 Basement membrane;Melanosome NA PE1 15 +NX_P07357 584 65163 6.07 0 Secreted;Cell membrane Complement component 8 deficiency, 1 PE1 1 +NX_P07358 591 67047 8.5 0 Secreted Complement component 8 deficiency, 2 PE1 1 +NX_P07359 652 71540 5.87 1 Membrane Bernard-Soulier syndrome;Non-arteritic anterior ischemic optic neuropathy;Bernard-Soulier syndrome A2, autosomal dominant;Pseudo-von Willebrand disease PE1 17 +NX_P07360 202 22277 8.49 0 Secreted;Endoplasmic reticulum NA PE1 9 +NX_P07384 714 81890 5.49 0 Cytoplasm;Cytosol;Cell membrane Spastic paraplegia 76, autosomal recessive PE1 11 +NX_P07437 444 49671 4.78 0 Cytoplasm;Cytoskeleton Skin creases, congenital symmetric circumferential, 1;Cortical dysplasia, complex, with other brain malformations 6 PE1 6 +NX_P07438 61 6115 8.47 0 NA NA PE1 16 +NX_P07451 260 29557 6.86 0 Cytoplasm NA PE1 8 +NX_P07476 585 68479 4.62 0 Centrosome;Cytosol;Nucleus;Cytoplasm NA PE1 1 +NX_P07477 247 26558 6.08 0 Extracellular space Pancreatitis, hereditary PE1 7 +NX_P07478 247 26488 4.78 0 Extracellular space NA PE1 7 +NX_P07492 148 16213 10.22 0 Secreted;Secretory vesicle lumen NA PE1 18 +NX_P07498 182 20305 8.97 0 Secreted NA PE1 4 +NX_P07510 517 57883 5.86 4 Postsynaptic cell membrane;Cell membrane Multiple pterygium syndrome, Escobar variant;Multiple pterygium syndrome, lethal type PE1 2 +NX_P07550 413 46459 6.59 7 Cytosol;Cell membrane;Early endosome NA PE1 5 +NX_P07585 359 39747 8.75 0 Extracellular matrix Corneal dystrophy, congenital stromal PE1 12 +NX_P07602 524 58113 5.06 0 Cytoplasmic vesicle;Lysosome;Secreted Gaucher disease, atypical, due to saposin C deficiency;Combined saposin deficiency;Krabbe disease, atypical, due to saposin A deficiency;Leukodystrophy metachromatic due to saposin-B deficiency PE1 10 +NX_P07686 556 63111 6.29 0 Lysosome GM2-gangliosidosis 2 PE1 5 +NX_P07711 333 37564 5.32 0 Lysosome NA PE1 9 +NX_P07737 140 15054 8.44 0 Cytoplasm;Cytoskeleton;Cytosol Amyotrophic lateral sclerosis 18 PE1 17 +NX_P07738 259 30005 6.1 0 Nucleolus Bisphosphoglycerate mutase deficiency PE1 7 +NX_P07741 180 19608 5.78 0 Cytosol;Cytoplasm;Nucleoplasm Adenine phosphoribosyltransferase deficiency PE1 16 +NX_P07766 207 23147 6.32 1 Cell membrane Immunodeficiency 18 PE1 11 +NX_P07814 1512 170591 7.02 0 Cytoplasm;Cytosol;Cytosol NA PE1 1 +NX_P07858 339 37822 5.88 0 Lysosome;Extracellular space;Melanosome;Cytoplasmic vesicle;Nucleolus NA PE1 8 +NX_P07864 332 36311 7.08 0 Cytoplasm NA PE1 11 +NX_P07900 732 84660 4.94 0 Nucleus;Cytoplasm;Melanosome;Cell membrane;Cytoplasm;Cytosol NA PE1 14 +NX_P07902 379 43363 6.49 0 Cytosol Galactosemia PE1 9 +NX_P07910 306 33670 4.95 0 Nucleus;Nucleus;Nucleoplasm NA PE1 14 +NX_P07911 640 69761 5.05 0 Basolateral cell membrane;Apical cell membrane;Secreted;Cilium membrane Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Familial juvenile hyperuricemic nephropathy 1;Medullary cystic kidney disease 2 PE1 16 +NX_P07919 91 10739 4.39 0 Mitochondrion inner membrane NA PE1 1 +NX_P07942 1786 198038 4.83 0 Basement membrane Lissencephaly 5 PE1 7 +NX_P07947 543 60801 6.32 0 Cell membrane;Cytosol;Cell membrane;Centrosome;Cytosol NA PE1 18 +NX_P07948 512 58574 6.7 0 Golgi apparatus;Cytoplasmic vesicle;Cell membrane;Nucleus;Cell membrane;Perinuclear region;Golgi apparatus;Membrane;Cytoplasm NA PE1 8 +NX_P07949 1114 124319 6.17 1 Cytosol;Cytoplasmic vesicle;Cell membrane;Cell membrane;Endosome membrane Multiple neoplasia 2B;Multiple neoplasia 2A;Colorectal cancer;Hirschsprung disease 1;Medullary thyroid carcinoma;Pheochromocytoma;Congenital central hypoventilation syndrome PE1 10 +NX_P07951 284 32851 4.66 0 Cytoplasm;Cytoskeleton Nemaline myopathy 4;Arthrogryposis, distal, 1A;Arthrogryposis, distal, 2B;Cap myopathy 2 PE1 9 +NX_P07954 510 54637 8.85 0 Mitochondrion;Mitochondrion;Cytoplasm Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer PE1 1 +NX_P07988 381 42117 5.27 0 Surface film Respiratory distress syndrome in premature infants;Pulmonary surfactant metabolism dysfunction 1 PE1 2 +NX_P07992 297 32562 5.9 0 Nucleus;Cytoplasm;Nucleus;Nucleoplasm Cerebro-oculo-facio-skeletal syndrome 4 PE1 19 +NX_P07996 1170 129383 4.71 0 Cell membrane;Endoplasmic reticulum;Sarcoplasmic reticulum NA PE1 15 +NX_P07998 156 17644 9.1 0 Nucleoplasm;Cytoplasmic vesicle;Secreted NA PE1 14 +NX_P08034 283 32025 9.19 4 Cell membrane;Gap junction Dejerine-Sottas syndrome;Charcot-Marie-Tooth disease, X-linked dominant, 1 PE1 X +NX_P08047 785 80693 6.94 0 Nucleus;Nucleoplasm;Cytoplasm NA PE1 12 +NX_P08048 801 90505 5.65 0 Nucleus NA PE1 Y +NX_P08069 1367 154793 5.58 1 Cytoplasmic vesicle;Cell membrane Insulin-like growth factor 1 resistance PE1 15 +NX_P08100 348 38893 6.21 7 Cell membrane;Membrane Retinitis pigmentosa 4;Night blindness, congenital stationary, autosomal dominant 1 PE1 3 +NX_P08118 114 12865 5.36 0 Secreted Prostate cancer, hereditary, 13 PE1 10 +NX_P08123 1366 129314 9.08 0 Endoplasmic reticulum;Extracellular matrix Osteogenesis imperfecta 4;Osteogenesis imperfecta 2;Ehlers-Danlos syndrome 7B;Osteogenesis imperfecta 3;Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form;Osteogenesis imperfecta 1 PE1 7 +NX_P08133 673 75873 5.42 0 Nucleus speckle;Cytoplasm;Melanosome NA PE1 5 +NX_P08134 193 22006 6.2 0 Cell membrane;Cleavage furrow NA PE1 1 +NX_P08138 427 45183 4.59 1 Membrane;Cell membrane;Nucleoplasm NA PE1 17 +NX_P08151 1106 117904 6.98 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 12 +NX_P08172 466 51715 9.07 7 Cell membrane;Postsynaptic cell membrane Major depressive disorder PE1 7 +NX_P08173 479 53049 9.87 7 Postsynaptic cell membrane;Nucleus;Cell membrane;Golgi apparatus NA PE1 11 +NX_P08174 381 41400 7.79 0 Cytoplasmic vesicle;Midbody ring;Secreted;Cell membrane;Cell membrane Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy PE1 1 +NX_P08183 1280 141479 9.06 12 Cytosol;Cell membrane;Nucleoplasm;Focal adhesion Inflammatory bowel disease 13 PE1 7 +NX_P08185 405 45141 5.64 0 Secreted Corticosteroid-binding globulin deficiency PE1 14 +NX_P08195 630 67994 4.89 1 Cell membrane;Cell membrane;Melanosome;Nucleus;Cytosol;Apical cell membrane NA PE1 11 +NX_P08217 269 28888 8.8 0 Secreted NA PE1 1 +NX_P08218 269 28810 6.48 0 Secreted NA PE1 1 +NX_P08235 984 107067 7.22 0 Nucleoplasm;Cytoplasm;Nucleus;Endoplasmic reticulum membrane Early-onset hypertension with severe exacerbation in pregnancy;Pseudohypoaldosteronism 1, autosomal dominant PE1 4 +NX_P08236 651 74732 6.54 0 Cytoplasmic vesicle;Lysosome Mucopolysaccharidosis 7 PE1 7 +NX_P08237 780 85183 8.23 0 Cytoplasm;Endoplasmic reticulum Glycogen storage disease 7 PE1 12 +NX_P08238 724 83264 4.97 0 Cytoplasm;Cytoplasm;Melanosome;Nucleus;Secreted;Cell membrane NA PE1 6 +NX_P08240 638 69811 9.07 0 Endoplasmic reticulum membrane NA PE1 11 +NX_P08243 561 64370 6.39 0 Cytosol Asparagine synthetase deficiency PE1 7 +NX_P08246 267 28518 9.71 0 NA Neutropenia, severe congenital 1, autosomal dominant;Cyclic haematopoiesis PE1 19 +NX_P08247 313 33845 4.66 4 Synaptic vesicle membrane;Synaptosome Mental retardation, X-linked 96 PE1 X +NX_P08253 660 73882 5.26 0 Cytosol;Extracellular matrix;Membrane;Nucleus;Cytoplasm;Cytoplasmic vesicle;Mitochondrion Multicentric osteolysis, nodulosis, and arthropathy PE1 16 +NX_P08254 477 53977 5.77 0 Cytoplasmic vesicle;Extracellular matrix Coronary heart disease 6 PE1 11 +NX_P08263 222 25631 8.91 0 Cytoplasm NA PE1 6 +NX_P08294 240 25851 6.13 0 Extracellular space NA PE1 4 +NX_P08311 255 28837 11.19 0 Cell surface NA PE1 14 +NX_P08319 380 40222 8.25 0 Nucleus;Cytoplasm;Cytosol NA PE1 4 +NX_P08397 361 39330 6.68 0 Lipid droplet;Cytoplasm Acute intermittent porphyria PE1 11 +NX_P08473 750 85514 5.54 1 Cell membrane Spinocerebellar ataxia 43;Charcot-Marie-Tooth disease 2T PE1 3 +NX_P08476 426 47442 8.3 0 Secreted NA PE1 7 +NX_P08493 103 12353 9.71 0 Secreted Keutel syndrome PE1 12 +NX_P08514 1039 113377 5.21 1 Cytosol;Nucleoplasm;Cell junction;Membrane Glanzmann thrombasthenia;Bleeding disorder, platelet-type 16 PE1 17 +NX_P08519 4548 501319 5.58 0 NA NA PE1 6 +NX_P08559 390 43296 8.35 0 Mitochondrion matrix Pyruvate dehydrogenase E1-alpha deficiency PE1 X +NX_P08567 350 40125 8.51 0 NA NA PE1 2 +NX_P08571 375 40076 5.84 0 Cytoplasmic vesicle;Cell membrane;Golgi apparatus;Secreted;Membrane raft NA PE1 5 +NX_P08572 1712 167553 8.89 0 Cytoplasmic vesicle;Basement membrane Porencephaly 2;Intracerebral hemorrhage PE1 13 +NX_P08574 325 35422 9.15 1 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 6 PE1 8 +NX_P08575 1304 147254 5.77 1 Membrane;Membrane raft Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive;Multiple sclerosis PE1 1 +NX_P08579 225 25486 9.72 0 Nucleus;Nucleus speckle NA PE1 20 +NX_P08581 1390 155541 7.02 1 Cytosol;Membrane;Secreted;Cell membrane Renal cell carcinoma papillary;Osteofibrous dysplasia;Deafness, autosomal recessive, 97;Hepatocellular carcinoma PE1 7 +NX_P08582 738 80215 5.61 0 Cell membrane NA PE1 3 +NX_P08588 477 51323 9.23 7 Cell membrane;Early endosome NA PE1 10 +NX_P08590 195 21932 5.03 0 Cytoplasmic vesicle Cardiomyopathy, familial hypertrophic 8 PE1 3 +NX_P08603 1231 139096 6.21 0 Secreted Macular degeneration, age-related, 4;Basal laminar drusen;Hemolytic uremic syndrome atypical 1;Complement factor H deficiency PE1 1 +NX_P08620 206 22048 9.73 0 Secreted NA PE1 11 +NX_P08621 437 51557 9.94 0 Nucleus speckle;Nucleoplasm;Nucleoplasm;Nucleus NA PE1 19 +NX_P08631 526 59600 6.27 0 Caveola;Cytoplasmic vesicle;Nucleus;Focal adhesion;Lysosome;Membrane;Podosome membrane;Cytosol;Cell membrane;Golgi apparatus;Cytoskeleton;Nucleoplasm;Cell membrane;Secretory vesicle NA PE1 20 +NX_P08637 254 29089 8.2 1 Secreted;Cell membrane Immunodeficiency 20 PE1 1 +NX_P08648 1049 114536 5.5 1 Membrane;Focal adhesion;Cell surface NA PE1 12 +NX_P08651 508 55675 8.62 0 Nucleus;Nucleus;Nucleolus NA PE1 19 +NX_P08670 466 53652 5.06 0 Cell membrane;Cytoplasm;Cytoskeleton;Cytoplasm;Golgi apparatus Cataract 30, multiple types PE1 10 +NX_P08684 503 57343 8.27 1 Microsome membrane;Endoplasmic reticulum membrane NA PE1 7 +NX_P08686 494 55887 7.71 0 Endoplasmic reticulum membrane;Microsome membrane Adrenal hyperplasia 3 PE1 6 +NX_P08697 491 54566 5.87 0 Nucleoplasm;Cytoplasmic vesicle;Secreted Alpha-2-plasmin inhibitor deficiency PE1 17 +NX_P08700 152 17233 8.69 0 Secreted NA PE1 5 +NX_P08708 135 15550 9.85 0 Nucleolus;Cytoplasm;Nucleus;Nucleolus;Endoplasmic reticulum;Cytosol Diamond-Blackfan anemia 4 PE1 15 +NX_P08709 466 51594 6.92 0 Secreted Factor VII deficiency PE1 13 +NX_P08727 400 44106 5.05 0 Cytoskeleton NA PE1 17 +NX_P08729 469 51386 5.4 0 Cytoplasm NA PE1 12 +NX_P08754 354 40532 5.5 0 Cytoplasm;Cell membrane;Centrosome;Membrane Auriculocondylar syndrome 1 PE1 1 +NX_P08758 320 35937 4.94 0 Nucleus;Nucleus membrane;Cytoplasm Pregnancy loss, recurrent, 3 PE1 4 +NX_P08779 473 51268 4.98 0 NA Pachyonychia congenita 1;Keratoderma, palmoplantar, non-epidermolytic, focal 1 PE1 17 +NX_P08833 259 27904 5.11 0 Golgi apparatus;Secreted NA PE1 7 +NX_P08842 583 65492 7.6 2 Endoplasmic reticulum membrane Ichthyosis, X-linked PE1 X +NX_P08861 270 29263 5.85 0 NA NA PE1 1 +NX_P08865 295 32854 4.79 0 Cytoplasm;Cytosol;Cell membrane;Cell membrane;Nucleus Asplenia, isolated congenital PE1 3 +NX_P08887 468 51548 8.56 1 Basolateral cell membrane;Secreted NA PE1 1 +NX_P08908 422 46107 9.13 7 Cell membrane Periodic fever, menstrual cycle-dependent PE1 5 +NX_P08910 425 48315 6.24 1 Flagellum membrane;Cell membrane;Cytosol;Nucleoplasm NA PE1 15 +NX_P08912 532 60074 9.39 7 Cell membrane;Postsynaptic cell membrane NA PE2 15 +NX_P08913 450 48957 9.8 7 Cell membrane NA PE1 10 +NX_P08922 2347 263915 5.76 1 Cytoplasmic vesicle;Cell membrane NA PE1 6 +NX_P08949 121 13252 11.87 0 Cell membrane;Nucleus;Secreted;Cytoplasmic vesicle NA PE1 15 +NX_P08962 238 25637 8.14 4 Cytoplasm;Nucleus;Cell membrane;Lysosome membrane;Multivesicular body;Melanosome;Cytoplasmic vesicle;Lysosome;Late endosome membrane;Exosome;Cell surface NA PE1 12 +NX_P08F94 4074 446702 6.12 1 Cytoplasm;Cell membrane;Centromere;Spindle;Cilium basal body;Cilium Polycystic kidney disease 4, with or without hepatic disease PE1 6 +NX_P09001 348 38633 9.52 0 Mitochondrion Combined oxidative phosphorylation deficiency 9 PE1 3 +NX_P09012 282 31280 9.83 0 Nucleus;Nucleoplasm NA PE1 19 +NX_P09016 255 27885 9.44 0 Nucleus;Nucleus;Cell junction NA PE1 2 +NX_P09017 264 29811 9.24 0 Nucleus;Nucleus NA PE1 12 +NX_P09038 288 30770 11.18 0 Nucleoplasm;Nucleus;Secreted;Nucleus NA PE1 4 +NX_P09067 269 29434 9.1 0 Nucleus;Nucleus NA PE1 17 +NX_P09086 479 51209 8.6 0 Cytoplasm;Nucleus;Nucleoplasm NA PE1 19 +NX_P09093 270 29489 6.43 0 NA NA PE1 1 +NX_P09104 434 47269 4.91 0 Cytoplasm;Cell membrane NA PE1 12 +NX_P09105 142 15508 7.09 0 Lipid droplet NA PE1 16 +NX_P09110 424 44292 8.76 0 Peroxisome;Peroxisome NA PE1 3 +NX_P09131 477 50333 7.65 8 Endoplasmic reticulum;Cytoskeleton;Membrane NA PE2 X +NX_P09132 144 16156 9.87 0 Cytoplasm NA PE1 5 +NX_P09172 617 69065 5.97 1 Cytoplasmic vesicle;Chromaffin granule membrane;Secretory vesicle membrane;Secretory vesicle lumen;Chromaffin granule lumen;Secreted Dopamine beta-hydroxylase deficiency PE1 9 +NX_P09210 222 25664 8.51 0 Cytoplasm NA PE1 6 +NX_P09211 210 23356 5.43 0 Mitochondrion;Cytoplasm;Cytosol;Mitochondrion;Nucleus NA PE1 11 +NX_P09228 141 16445 4.85 0 Secreted NA PE1 20 +NX_P09234 159 17394 9.72 0 Nucleus NA PE1 6 +NX_P09237 267 29677 7.73 0 Cytoplasmic vesicle;Nucleoplasm;Extracellular matrix NA PE1 11 +NX_P09238 476 54151 5.49 0 Extracellular matrix;Cell membrane;Cytosol NA PE1 11 +NX_P09326 243 27683 8.34 0 Cell membrane;Nucleolus;Cytosol;Cell membrane NA PE1 1 +NX_P09327 827 92695 5.99 0 Filopodium;Filopodium tip;Cell membrane;Cytoskeleton;Lamellipodium;Ruffle;Microvillus NA PE1 2 +NX_P09341 107 11301 10.46 0 Secreted NA PE1 4 +NX_P09382 135 14716 5.33 0 Cytoplasm;Extracellular matrix;Cytosol;Nucleoplasm;Nucleus NA PE1 22 +NX_P09417 244 25790 6.9 0 Mitochondrion Hyperphenylalaninemia, BH4-deficient, C PE1 4 +NX_P09429 215 24894 5.62 0 Nucleus;Nucleus;Nucleus;Secreted;Cell membrane;Cytoplasm;Chromosome;Endosome;Endoplasmic reticulum-Golgi intermediate compartment NA PE1 13 +NX_P09430 55 6424 12.09 0 Chromosome;Nucleus NA PE1 2 +NX_P09455 135 15850 4.99 0 Cytoplasm;Nucleoplasm;Cytosol;Lipid droplet NA PE1 3 +NX_P09466 180 20624 5.36 0 Secreted NA PE1 9 +NX_P09467 338 36842 6.54 0 Mitochondrion Fructose-1,6-bisphosphatase deficiency PE1 9 +NX_P09471 354 40051 5.34 0 Cell membrane;Membrane Neurodevelopmental disorder with involuntary movements;Epileptic encephalopathy, early infantile, 17 PE1 16 +NX_P09486 303 34632 4.73 0 Basement membrane Osteogenesis imperfecta 17 PE1 5 +NX_P09488 218 25712 6.24 0 Cytoplasm NA PE1 1 +NX_P09493 284 32709 4.69 0 Cytoplasm;Cytoskeleton Cardiomyopathy, dilated 1Y;Cardiomyopathy, familial hypertrophic 3;Left ventricular non-compaction 9 PE1 15 +NX_P09496 248 27077 4.43 0 Endosome;Lysosome;Cytoplasmic vesicle membrane;Coated pit;Spindle NA PE1 9 +NX_P09497 229 25190 4.57 0 Cytosol;Cell membrane;Cytoplasmic vesicle;Coated pit;Cytoplasmic vesicle membrane NA PE1 5 +NX_P09525 319 35883 5.84 0 Cytosol NA PE1 2 +NX_P09529 407 45122 8.35 0 Secreted;Nucleoplasm NA PE1 2 +NX_P09543 421 47579 9.17 0 Cytosol;Membrane;Nucleus;Melanosome NA PE1 17 +NX_P09544 360 40418 9.06 0 Extracellular matrix;Cytoplasmic vesicle NA PE1 7 +NX_P09564 240 25409 6.87 1 Membrane NA PE1 17 +NX_P09565 113 12087 9.65 0 NA NA PE1 11 +NX_P09601 288 32819 7.89 0 Cell membrane;Microsome;Endoplasmic reticulum membrane;Golgi apparatus Heme oxygenase 1 deficiency PE1 22 +NX_P09603 554 60179 5.16 1 Cell membrane;Extracellular space;Cell membrane NA PE1 1 +NX_P09619 1106 123968 4.88 1 Cytosol;Cell membrane;Cytoplasmic vesicle;Lysosome lumen;Cytoplasmic vesicle Basal ganglia calcification, idiopathic, 4;Leukemia, acute myelogenous;Leukemia, juvenile myelomonocytic;Myofibromatosis, infantile 1;Myeloproliferative disorder chronic with eosinophilia;Kosaki overgrowth syndrome;Premature aging syndrome, Penttinen type PE1 5 +NX_P09622 509 54177 7.95 0 Mitochondrion matrix;Acrosome;Flagellum;Mitochondrion Dihydrolipoamide dehydrogenase deficiency PE1 7 +NX_P09629 217 24015 8.83 0 Cytosol;Nucleus;Nucleus;Nucleoplasm NA PE1 17 +NX_P09630 235 26915 9.18 0 Cytosol;Nucleoplasm;Nucleus NA PE1 12 +NX_P09651 372 38747 9.17 0 Nucleus;Cytoplasm;Nucleus Amyotrophic lateral sclerosis 20;Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 PE1 12 +NX_P09661 255 28416 8.71 0 Nucleus speckle;Nucleus NA PE1 15 +NX_P09668 335 37394 8.35 0 Cytosol;Cytoplasmic vesicle;Cytosol;Lysosome NA PE1 15 +NX_P09669 75 8781 10.38 1 Mitochondrion inner membrane;Mitochondrion NA PE1 8 +NX_P09681 153 17108 7.8 0 Secreted NA PE1 17 +NX_P09683 121 13016 11.27 0 Secreted NA PE1 11 +NX_P09693 182 20469 8.6 1 Cell membrane Immunodeficiency 17 PE1 11 +NX_P09758 323 35709 9.14 1 Nucleolus;Cell membrane;Cytoplasmic vesicle;Membrane Corneal dystrophy, gelatinous drop-like PE1 1 +NX_P09769 529 59479 5.41 0 Mitochondrion intermembrane space;Cytosol;Cell membrane;Ruffle membrane;Cell membrane;Cell membrane;Cytoskeleton;Mitochondrion inner membrane NA PE1 1 +NX_P09848 1927 218587 5.9 1 Apical cell membrane Congenital lactase deficiency PE1 2 +NX_P09871 688 76684 4.86 0 Nucleus;Cytosol Complement component C1s deficiency;Ehlers-Danlos syndrome, periodontal type, 2 PE1 12 +NX_P09874 1014 113084 8.99 0 Nucleolus;Nucleus;Nucleolus;Nucleus;Nucleus NA PE1 1 +NX_P09884 1462 165913 5.61 0 Nucleus;Nucleoplasm;Cytosol;Cytosol Pigmentary disorder, reticulate, with systemic manifestations, X-linked PE1 X +NX_P09912 130 12927 5.27 2 Membrane;Mitochondrion NA PE1 1 +NX_P09913 472 54632 6.32 0 Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle NA PE1 10 +NX_P09914 478 55360 6.75 0 Cytosol;Cytoplasm NA PE1 10 +NX_P09917 674 77983 5.51 0 Nucleoplasm;Nucleus matrix;Nucleus membrane;Cytoplasm NA PE1 10 +NX_P09919 207 22293 5.61 0 Secreted NA PE1 17 +NX_P09923 528 56812 5.53 0 Cell membrane NA PE1 2 +NX_P09936 223 24824 5.33 0 Cytosol;Cytoplasm;Nucleoplasm;Endoplasmic reticulum membrane Spastic paraplegia 79, autosomal recessive;Parkinson disease 5 PE1 4 +NX_P09958 794 86678 6.01 1 trans-Golgi network membrane;Golgi apparatus;Nucleoplasm;Secreted;Endosome membrane;Cell membrane NA PE1 15 +NX_P09960 611 69285 5.8 0 Cytosol;Nucleoplasm;Cytoplasm NA PE1 12 +NX_P09972 364 39456 6.41 0 Cytoplasmic vesicle;Nucleus;Cytosol;Nucleolus NA PE1 17 +NX_P0C024 238 26942 6.55 0 Peroxisome NA PE1 16 +NX_P0C025 328 35923 6.2 0 Centrosome;Cytosol NA PE1 1 +NX_P0C091 2139 238179 5.14 0 Extracellular matrix NA PE3 4 +NX_P0C0E4 278 31239 9.64 0 Membrane;Cytoplasm;Mitochondrion Mental retardation, X-linked, syndromic, Martin-Probst type PE1 X +NX_P0C0L4 1744 192785 6.66 0 Synapse;Axon;Dendrite;Secreted Complement component 4A deficiency;Systemic lupus erythematosus PE1 6 +NX_P0C0L5 1744 192751 6.89 0 Secreted;Synapse;Axon;Dendrite Systemic lupus erythematosus;Complement component 4B deficiency PE1 6 +NX_P0C0P6 89 10103 10.3 0 Secreted NA PE3 10 +NX_P0C0S5 128 13553 10.58 0 Nucleoplasm;Nucleus;Chromosome NA PE1 4 +NX_P0C0S8 130 14091 10.9 0 Nucleus;Chromosome NA PE1 6 +NX_P0C1H6 154 17001 10.08 0 Nucleus;Chromosome NA PE1 X +NX_P0C1S8 567 62925 6.06 0 Nucleus;Cytosol;Nucleoplasm NA PE1 7 +NX_P0C1Z6 253 28278 5.19 0 Nucleus;Nucleoplasm;Nucleus membrane;Nucleus NA PE1 19 +NX_P0C221 793 93626 6.34 0 Nucleus;Nucleolus;Cytosol NA PE1 14 +NX_P0C263 348 38088 5.3 0 NA NA PE1 19 +NX_P0C264 359 38488 4.71 0 NA NA PE2 19 +NX_P0C2L3 166 18190 4.86 1 Nucleus;Membrane;Cell membrane;Cytosol NA PE1 9 +NX_P0C2S0 81 8980 4.36 1 Membrane NA PE3 15 +NX_P0C2W1 286 30633 8.01 0 Presynaptic cell membrane;Postsynaptic cell membrane;Cytosol NA PE1 3 +NX_P0C2W7 299 31319 4.11 0 NA NA PE1 X +NX_P0C2Y1 421 48090 4.73 0 Cytoplasm NA PE5 1 +NX_P0C5J1 330 36771 5.85 0 NA NA PE1 8 +NX_P0C5K6 33 3500 9.5 0 NA NA PE5 X +NX_P0C5K7 136 15412 9.08 0 NA NA PE2 15 +NX_P0C5Y4 121 12324 6.14 0 NA NA PE2 17 +NX_P0C5Y9 115 12697 10.67 0 Nucleus;Chromosome NA PE1 X +NX_P0C5Z0 115 12713 10.67 0 Nucleus;Chromosome NA PE1 X +NX_P0C604 315 35621 7.93 7 Cell membrane NA PE3 11 +NX_P0C617 328 36816 7.52 7 Cell membrane NA PE3 11 +NX_P0C623 313 35487 8.63 7 Cell membrane NA PE3 14 +NX_P0C626 314 35647 8.86 7 Cell membrane NA PE3 11 +NX_P0C628 307 34762 9.22 7 Cell membrane NA PE3 3 +NX_P0C629 311 34891 9.2 7 Cell membrane NA PE3 1 +NX_P0C645 316 35862 8.43 7 Cell membrane NA PE3 14 +NX_P0C646 297 33279 9.02 7 Cell membrane NA PE3 11 +NX_P0C671 652 71930 8.7 0 NA NA PE1 6 +NX_P0C672 248 28460 7.55 3 Membrane NA PE5 12 +NX_P0C6A0 271 29628 9.34 0 Cytoplasmic vesicle;Nucleus;Nucleus NA PE1 19 +NX_P0C6C1 535 58256 9.15 0 Mitochondrion NA PE3 15 +NX_P0C6P0 100 11233 8.77 0 NA NA PE5 15 +NX_P0C6S8 592 64881 8.94 1 Mitochondrion;Membrane NA PE1 19 +NX_P0C6T2 37 4193 6.52 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 2 +NX_P0C7A2 387 43591 4.71 0 NA NA PE2 5 +NX_P0C7H8 128 13480 8.32 0 NA NA PE1 17 +NX_P0C7H9 530 59751 8.09 0 Nucleus;Endoplasmic reticulum NA PE3 8 +NX_P0C7I0 530 59635 7.3 0 Nucleus;Endoplasmic reticulum NA PE3 8 +NX_P0C7I6 412 46012 5.88 0 Nucleus;Nucleoplasm;Cytosol NA PE1 19 +NX_P0C7L1 97 10821 4.9 0 Secreted NA PE2 3 +NX_P0C7M3 94 10526 6.81 0 Secreted;Cytoplasm NA PE1 14 +NX_P0C7M4 288 31637 4.52 0 Nucleus NA PE1 X +NX_P0C7M6 154 18251 10.51 0 NA NA PE1 3 +NX_P0C7M7 580 65703 8.84 0 Mitochondrion matrix NA PE2 12 +NX_P0C7M8 214 23927 6.83 1 Membrane NA PE1 7 +NX_P0C7N1 319 36334 8.77 7 Cell membrane NA PE3 11 +NX_P0C7N4 346 39065 8.39 1 Membrane NA PE2 22 +NX_P0C7N5 309 35054 8.4 7 Cell membrane NA PE3 11 +NX_P0C7N8 305 34020 8.1 7 Cell membrane NA PE3 11 +NX_P0C7P0 127 14216 10.56 0 Mitochondrion NA PE1 17 +NX_P0C7P1 496 55775 9.95 0 Nucleus NA PE2 Y +NX_P0C7P2 107 11739 10.07 0 NA NA PE2 22 +NX_P0C7P3 912 103907 8.57 0 Nucleus Bleeding disorder, platelet-type 20 PE1 17 +NX_P0C7P4 283 30815 9.04 0 NA NA PE5 22 +NX_P0C7Q2 107 11437 9.03 0 Cytoplasm Macular degeneration, age-related, 8 PE1 10 +NX_P0C7Q3 252 28609 4.92 0 NA NA PE5 1 +NX_P0C7Q5 338 35378 6.77 7 Membrane NA PE5 18 +NX_P0C7Q6 338 35103 6.11 9 Membrane NA PE2 17 +NX_P0C7T2 308 34287 8.56 7 Cell membrane NA PE3 1 +NX_P0C7T3 313 35317 9.02 7 Cell membrane NA PE3 11 +NX_P0C7T4 53 6023 5.01 0 NA NA PE1 18 +NX_P0C7T5 689 73306 6.13 0 Nucleus;Nucleus;Dendrite NA PE1 16 +NX_P0C7T7 363 38799 11.74 0 NA NA PE5 14 +NX_P0C7T8 217 23522 6.71 4 Membrane NA PE2 14 +NX_P0C7U0 828 90477 8.67 1 Dendrite;Membrane NA PE1 7 +NX_P0C7U1 165 19025 9.1 0 NA NA PE2 10 +NX_P0C7U3 371 41895 8.88 5 Membrane NA PE3 5 +NX_P0C7U9 286 31739 10.05 2 Membrane NA PE2 8 +NX_P0C7V0 271 29146 11.35 0 NA NA PE5 6 +NX_P0C7V4 464 49895 9.95 0 NA NA PE5 8 +NX_P0C7V6 817 87541 9.02 0 NA NA PE5 X +NX_P0C7V7 166 19160 9.66 1 Membrane NA PE5 8 +NX_P0C7V8 631 71191 4.64 0 NA NA PE1 X +NX_P0C7V9 234 26716 5.61 0 NA NA PE5 3 +NX_P0C7W0 189 20715 4.83 0 Nucleolus NA PE2 17 +NX_P0C7W6 258 31035 5.01 0 Cilium;Cytoplasm NA PE1 10 +NX_P0C7W8 464 49853 9.95 0 NA NA PE5 8 +NX_P0C7W9 464 49953 9.9 0 NA NA PE5 8 +NX_P0C7X0 464 49829 9.95 0 NA NA PE5 8 +NX_P0C7X1 549 62219 9.2 0 Cell membrane NA PE2 17 +NX_P0C7X2 276 30575 9.42 0 Nucleus;Cell membrane;Nucleoplasm;Cell junction NA PE1 16 +NX_P0C7X3 344 39078 7.28 0 NA NA PE3 16 +NX_P0C7X4 201 22644 6.65 0 NA NA PE5 X +NX_P0C7X5 589 67808 8.76 0 Nucleus NA PE3 2 +NX_P0C841 47 5233 6.01 0 NA NA PE5 8 +NX_P0C842 121 13547 4.49 0 NA NA PE5 10 +NX_P0C843 101 12082 10.05 0 NA NA PE5 9 +NX_P0C851 137 15334 9.86 2 Membrane;Cell membrane;Cytosol NA PE2 17 +NX_P0C853 105 11579 5.82 0 NA NA PE5 8 +NX_P0C854 216 23602 10.5 0 Secreted NA PE5 22 +NX_P0C860 447 51070 8.6 0 Nucleus NA PE5 2 +NX_P0C862 333 34681 8.59 0 Secreted NA PE1 13 +NX_P0C864 163 16785 10.29 0 NA NA PE5 4 +NX_P0C866 280 30847 5.49 0 NA NA PE5 1 +NX_P0C869 781 87978 5.64 0 Early endosome membrane;Cytosol;Mitochondrion membrane NA PE1 15 +NX_P0C870 316 35932 5.22 0 NA NA PE1 15 +NX_P0C874 917 102419 8.32 1 Membrane NA PE5 9 +NX_P0C875 321 37405 9.37 0 Golgi apparatus NA PE1 2 +NX_P0C879 139 14498 12 0 NA NA PE5 10 +NX_P0C880 135 14177 11.84 0 NA NA PE5 20 +NX_P0C881 870 100635 7.16 0 NA NA PE2 7 +NX_P0C8F1 98 11407 8.97 0 Acrosome;Secreted NA PE1 11 +NX_P0CAP1 466 54206 5.91 0 Cytoskeleton;Cell membrane;I band;Z line;Cell junction NA PE1 15 +NX_P0CAP2 368 41740 6.01 0 Nucleus envelope;Nucleus NA PE1 15 +NX_P0CAT3 122 13375 10.82 0 NA NA PE5 10 +NX_P0CB33 412 47565 9.31 0 Nucleus NA PE5 7 +NX_P0CB38 370 41854 9.53 0 NA NA PE1 4 +NX_P0CB47 393 46134 9.52 0 Cytoplasm;Nucleus NA PE3 11 +NX_P0CB48 400 46551 9.11 0 Nucleus NA PE5 2 +NX_P0CE67 100 11337 9.02 0 NA NA PE4 3 +NX_P0CE71 109 12129 4.11 0 NA NA PE5 7 +NX_P0CE72 109 12184 4.19 0 NA NA PE1 7 +NX_P0CF51 173 19804 7.7 1 Membrane NA PE1 7 +NX_P0CF74 106 11277 6.91 0 Secreted;Cell membrane NA PE1 22 +NX_P0CF75 366 40313 7 0 NA NA PE2 10 +NX_P0CF97 657 76034 8.33 0 NA NA PE2 4 +NX_P0CG00 497 56244 8.95 0 Nucleus NA PE5 19 +NX_P0CG01 181 20221 8.64 0 Secreted NA PE3 2 +NX_P0CG04 106 11348 7.89 0 Secreted;Cell membrane NA PE1 22 +NX_P0CG08 455 52917 9.34 9 Golgi apparatus membrane NA PE1 1 +NX_P0CG12 524 51391 12.42 0 Nucleus;Nucleoplasm NA PE1 16 +NX_P0CG13 121 13314 7.9 0 Nucleus NA PE1 16 +NX_P0CG20 571 59354 9.16 0 NA NA PE1 16 +NX_P0CG21 123 12631 4.78 0 NA NA PE1 16 +NX_P0CG22 281 30608 9.81 0 NA NA PE5 14 +NX_P0CG23 659 74878 5.19 0 Nucleolus NA PE1 7 +NX_P0CG24 379 43967 9.03 0 Nucleus NA PE2 9 +NX_P0CG29 244 27506 6.53 0 Cytoplasm NA PE1 22 +NX_P0CG30 244 27507 5.99 0 Cytoplasm NA PE1 22 +NX_P0CG31 522 59572 8.7 0 Nucleus speckle;Nucleus;Cytosol NA PE5 17 +NX_P0CG32 403 45160 7.02 0 NA NA PE3 X +NX_P0CG33 693 79896 5.37 0 NA NA PE2 15 +NX_P0CG34 45 5229 5.31 0 Cytoskeleton NA PE1 X +NX_P0CG35 45 5229 5.31 0 Cytoskeleton NA PE1 X +NX_P0CG36 223 24642 9.04 0 Secreted NA PE3 2 +NX_P0CG37 223 24612 9.14 0 Cell membrane;Secreted Heterotaxy, visceral, 2, autosomal PE1 2 +NX_P0CG38 1075 121282 5.83 0 NA NA PE1 2 +NX_P0CG39 1038 117390 5.66 0 NA NA PE1 2 +NX_P0CG40 484 48915 9.05 0 Nucleus;Mitochondrion NA PE1 2 +NX_P0CG41 777 88077 5.23 1 Membrane NA PE2 7 +NX_P0CG42 384 43129 11.41 0 NA NA PE3 9 +NX_P0CG43 387 43408 11.19 0 NA NA PE3 16 +NX_P0CG47 229 25762 6.86 0 Cytoplasm;Nucleus NA PE1 17 +NX_P0CG48 685 77039 7.16 0 Nucleus speckle;Cytoplasm;Nucleus NA PE1 12 +NX_P0CH98 169 18676 5.62 0 NA NA PE5 17 +NX_P0CH99 300 34712 9.14 0 Nucleus NA PE2 8 +NX_P0CI00 300 34732 9.08 0 Nucleus NA PE5 8 +NX_P0CI01 402 48349 9.83 0 NA NA PE4 7 +NX_P0CI25 452 52888 7.53 0 NA NA PE2 11 +NX_P0CI26 452 52933 7.28 0 NA NA PE2 11 +NX_P0CJ68 24 2691 9.49 0 Cytoplasm;Secreted NA PE2 17 +NX_P0CJ69 28 3081 7.98 0 Secreted;Cytoplasm NA PE2 5 +NX_P0CJ70 24 2796 10.69 0 Cytoplasm;Secreted NA PE2 20 +NX_P0CJ71 28 3247 9.19 0 Cytoplasm;Secreted NA PE2 16 +NX_P0CJ72 24 2666 7.98 0 Cytoplasm;Secreted NA PE2 10 +NX_P0CJ73 24 2719 9.49 0 Secreted;Cytoplasm NA PE2 7 +NX_P0CJ74 24 2647 7.98 0 Secreted;Cytoplasm NA PE2 10 +NX_P0CJ75 24 2661 9.49 0 Secreted;Cytoplasm NA PE2 11 +NX_P0CJ76 24 2694 11.54 0 Secreted;Cytoplasm NA PE2 6 +NX_P0CJ77 24 2806 10.69 0 Secreted;Cytoplasm NA PE2 X +NX_P0CJ78 1059 111077 9.4 0 Nucleolus;Nucleus;Nucleus NA PE1 19 +NX_P0CJ79 500 58727 9.28 0 Nucleus NA PE1 19 +NX_P0CJ85 424 44926 8.72 0 Nucleus NA PE3 4 +NX_P0CJ86 424 44926 8.72 0 Nucleus NA PE3 4 +NX_P0CJ87 422 44826 8.36 0 Nucleus NA PE3 4 +NX_P0CJ88 424 44926 8.72 0 Nucleus NA PE3 4 +NX_P0CJ89 424 44926 8.72 0 Nucleus NA PE3 4 +NX_P0CJ90 424 44926 8.72 0 Nucleus NA PE3 4 +NX_P0CJ92 632 71342 8.15 0 NA NA PE3 15 +NX_P0CK96 405 43777 8.65 10 Membrane NA PE1 1 +NX_P0CK97 266 29079 8.28 4 Nucleus;Membrane NA PE2 1 +NX_P0CL80 117 12978 4.3 0 NA NA PE1 X +NX_P0CL81 117 12978 4.3 0 NA NA PE3 X +NX_P0CL82 117 12978 4.3 0 NA NA PE1 X +NX_P0CL83 205 23775 7.61 0 Nucleus NA PE5 7 +NX_P0CL84 134 15630 8.27 0 Nucleus NA PE5 7 +NX_P0CL85 134 15609 7.57 0 Nucleus NA PE2 7 +NX_P0CV98 308 35101 5.23 0 Nucleus;Cytoplasm NA PE1 Y +NX_P0CV99 314 35727 5.12 0 Cytoplasm;Nucleus NA PE2 Y +NX_P0CW00 308 35147 5.16 0 Cytoplasm;Nucleus NA PE2 Y +NX_P0CW01 314 35727 5.12 0 Cytoplasm;Nucleus NA PE3 Y +NX_P0CW18 603 64597 9.15 0 NA Microphthalmia, isolated, 6 PE1 2 +NX_P0CW19 117 13251 5.38 0 Cytoplasm NA PE2 2 +NX_P0CW20 117 13251 5.38 0 NA NA PE1 2 +NX_P0CW21 52 6167 9.69 0 NA NA PE5 13 +NX_P0CW23 69 7848 6.73 0 NA NA PE1 18 +NX_P0CW24 399 43875 5.24 0 Nucleolus;Mitochondrion NA PE1 X +NX_P0CW27 439 48709 10.6 0 NA NA PE1 8 +NX_P0CW71 290 32982 4.84 0 Nucleus;Chromosome NA PE5 unknown +NX_P0CZ25 163 17537 9.57 0 NA NA PE2 12 +NX_P0DH78 156 16549 7.43 0 NA NA PE4 9 +NX_P0DI80 62 7017 3.72 1 Membrane;Nucleus NA PE2 17 +NX_P0DI81 140 16445 6.02 0 Cytoplasm;Nucleus;Perinuclear region;Endoplasmic reticulum-Golgi intermediate compartment Spondyloepiphyseal dysplasia tarda PE1 X +NX_P0DI82 140 16445 6.02 0 Perinuclear region;Endoplasmic reticulum-Golgi intermediate compartment;Cytoplasm;Nucleus NA PE1 19 +NX_P0DI83 198 21118 12.15 0 Nucleus;Nucleolus NA PE1 17 +NX_P0DJ07 73 9114 6.31 1 Membrane;Mitochondrion NA PE1 19 +NX_P0DJ93 91 10351 6.17 1 Golgi apparatus;Nucleus membrane;Membrane;Nucleus NA PE1 6 +NX_P0DJD0 1748 196662 5.8 0 NA NA PE2 2 +NX_P0DJD1 1756 197308 5.85 0 NA NA PE2 2 +NX_P0DJD3 496 55784 9.95 0 Nucleus NA PE1 Y +NX_P0DJD4 496 55784 9.93 0 Nucleus NA PE1 Y +NX_P0DJD7 388 41977 4.16 0 Secreted NA PE1 11 +NX_P0DJD8 388 41976 4.22 0 Secreted NA PE1 11 +NX_P0DJD9 388 41993 4.21 0 Secreted NA PE1 11 +NX_P0DJG4 465 53028 9.33 0 NA NA PE1 4 +NX_P0DJH9 198 23209 5.98 0 NA NA PE2 14 +NX_P0DJI8 122 13532 6.28 0 Secreted NA PE1 11 +NX_P0DJI9 122 13527 9.2 0 Secreted NA PE1 11 +NX_P0DJJ0 459 53484 5.98 0 NA NA PE1 1 +NX_P0DJR0 217 24463 8.18 0 NA NA PE2 4 +NX_P0DKB5 382 40400 8.64 1 Membrane NA PE1 11 +NX_P0DKB6 136 15138 9.95 2 Membrane NA PE1 X +NX_P0DKL9 152 17712 8.71 0 NA NA PE4 5 +NX_P0DKV0 1188 130522 9.52 1 Membrane NA PE1 9 +NX_P0DKX0 622 71801 9.32 0 NA NA PE2 19 +NX_P0DKX4 95 11088 6.7 1 Nucleus;Centrosome;Membrane NA PE2 8 +NX_P0DL12 118 13332 4.56 1 Cytoplasmic vesicle;Membrane NA PE4 19 +NX_P0DM35 61 6094 8.75 0 NA NA PE3 1 +NX_P0DM63 369 42230 9.22 0 NA NA PE2 16 +NX_P0DMB1 279 31050 6.08 0 NA NA PE2 8 +NX_P0DMB2 117 13372 9.81 0 NA NA PE1 8 +NX_P0DMC3 54 6622 12.22 0 Extracellular space;Secreted NA PE1 4 +NX_P0DME0 302 34882 4.2 0 Nucleus;Cytoplasm NA PE1 1 +NX_P0DML2 217 25020 5.34 0 Secreted NA PE1 17 +NX_P0DML3 217 24994 5.34 0 Secreted NA PE1 17 +NX_P0DMM9 295 34196 5.68 0 Cytoplasm NA PE1 16 +NX_P0DMN0 295 34196 5.68 0 Cytoplasm NA PE1 16 +NX_P0DMP1 27 2961 9.49 0 Secreted;Cytoplasm NA PE2 3 +NX_P0DMP2 458 53406 6.46 0 NA NA PE2 1 +NX_P0DMQ5 153 15439 9.3 1 Membrane NA PE1 15 +NX_P0DMQ9 161 18160 9.49 0 NA NA PE2 8 +NX_P0DMR1 293 32029 5.48 0 Nucleus NA PE1 1 +NX_P0DMR2 95 10457 4.7 0 Secreted NA PE3 17 +NX_P0DMR3 200 22759 8.47 0 Cytoplasm NA PE5 13 +NX_P0DMS8 318 36185 9.11 7 Cell membrane NA PE1 1 +NX_P0DMS9 266 30327 8.9 2 Membrane NA PE1 1 +NX_P0DMT0 46 5194 5.97 1 Sarcoplasmic reticulum membrane NA PE2 10 +NX_P0DMU2 310 34506 7.57 7 Cell membrane NA PE5 11 +NX_P0DMU3 169 18266 8.91 0 NA NA PE3 1 +NX_P0DMU4 169 18266 8.91 0 NA NA PE3 1 +NX_P0DMU5 169 18266 8.91 0 NA NA PE3 1 +NX_P0DMU7 189 21232 9.72 0 NA NA PE2 X +NX_P0DMU8 189 21232 9.72 0 NA NA PE2 X +NX_P0DMU9 189 21145 9.61 0 NA NA PE1 X +NX_P0DMV0 189 21232 9.72 0 NA NA PE3 X +NX_P0DMV1 189 21363 9.67 0 NA NA PE3 X +NX_P0DMV2 189 21363 9.67 0 NA NA PE3 X +NX_P0DMV8 641 70052 5.48 0 Cytoplasm;Nucleus;Centrosome NA PE1 6 +NX_P0DMV9 641 70052 5.48 0 Cytoplasm;Centrosome NA PE1 6 +NX_P0DMW2 45 4993 5.92 0 Nucleus;Cytoplasm NA PE2 X +NX_P0DMW3 83 9236 10.36 1 Membrane NA PE1 12 +NX_P0DMW4 78 8389 11.25 0 NA NA PE2 X +NX_P0DMW5 78 8389 11.25 0 NA NA PE2 X +NX_P0DN24 101 10933 7.77 0 NA NA PE1 3 +NX_P0DN25 315 36396 5.41 1 Membrane NA PE2 2 +NX_P0DN26 164 18197 9.43 0 Cytoplasm NA PE3 1 +NX_P0DN37 164 18166 9.19 0 Cytoplasm NA PE3 1 +NX_P0DN76 240 27872 9.09 0 Nucleus;Nucleus speckle NA PE1 21 +NX_P0DN77 364 40584 8.9 7 Cell membrane NA PE3 X +NX_P0DN78 364 40584 8.9 7 Cell membrane NA PE3 X +NX_P0DN79 551 60587 6.2 0 Cytoplasm;Nucleus NA PE1 21 +NX_P0DN80 308 34772 7.05 7 Cell membrane NA PE3 3 +NX_P0DN81 318 34899 9.01 7 Cell membrane NA PE3 9 +NX_P0DN82 309 35330 9.29 7 Cell membrane NA PE3 6 +NX_P0DN84 34 3765 6.5 1 Sarcoplasmic reticulum membrane NA PE3 3 +NX_P0DN86 165 17739 8.49 0 Secreted NA PE1 19 +NX_P0DN87 165 17757 8.66 0 Secreted NA PE2 19 +NX_P0DO92 83 9002 8.53 0 NA NA PE1 16 +NX_P0DO97 292 32479 4.98 0 NA NA PE1 5 +NX_P0DOY2 106 11294 6.91 0 Cell membrane;Secreted NA PE1 22 +NX_P0DOY3 106 11266 6.91 0 Secreted;Cell membrane NA PE1 22 +NX_P0DOY5 5 435 5.53 0 Cell membrane;Secreted NA PE4 14 +NX_P0DP01 117 12992 9.26 0 Secreted;Cell membrane NA PE1 14 +NX_P0DP02 117 12989 9.12 0 Secreted;Cell membrane NA PE3 14 +NX_P0DP03 117 12947 9.1 0 Secreted;Cell membrane NA PE3 14 +NX_P0DP04 118 13017 5.28 0 Cell membrane;Secreted NA PE3 14 +NX_P0DP06 118 13156 9.33 0 Secreted;Cell membrane NA PE3 14 +NX_P0DP07 118 13095 9.33 0 Secreted;Cell membrane NA PE1 14 +NX_P0DP08 117 13016 9.36 0 Secreted;Cell membrane NA PE1 14 +NX_P0DP09 117 12569 7.68 0 Secreted;Cell membrane NA PE1 2 +NX_P0DP23 149 16838 4.09 0 Spindle pole;Spindle Long QT syndrome 14;Ventricular tachycardia, catecholaminergic polymorphic, 4 PE1 14 +NX_P0DP24 149 16838 4.09 0 Spindle pole;Spindle Long QT syndrome 15 PE1 2 +NX_P0DP25 149 16838 4.09 0 Spindle pole;Spindle NA PE1 19 +NX_P0DP42 221 25027 5.35 0 Membrane NA PE1 7 +NX_P0DP57 97 10160 6.14 0 Secreted NA PE1 8 +NX_P0DP58 116 12641 8.04 0 Dendrite;Cell membrane;Endoplasmic reticulum NA PE1 8 +NX_P0DP71 79 8682 8.8 0 NA NA PE3 X +NX_P0DP72 767 81629 5.95 1 Membrane NA PE3 11 +NX_P0DP73 79 8736 9.47 0 Secreted NA PE2 8 +NX_P0DP74 79 8736 9.47 0 Secreted NA PE2 8 +NX_P0DP75 135 14289 12.24 0 NA NA PE5 X +NX_P0DP91 1061 119487 6.15 0 Nucleus Premature ovarian failure 11 PE1 10 +NX_P0DPA2 414 43891 6.84 1 Membrane NA PE1 1 +NX_P0DPA3 235 25086 9.42 0 NA NA PE5 1 +NX_P0DPB3 487 53480 4.98 0 Cytoplasm NA PE1 3 +NX_P0DPB5 122 14332 9.88 0 NA NA PE1 13 +NX_P0DPB6 133 15237 5.55 0 Nucleus Treacher Collins syndrome 2 PE1 13 +NX_P10070 1586 167783 6.9 0 Cytoplasm;Nucleus;Nucleolus;Nucleus;Cilium Culler-Jones syndrome;Holoprosencephaly 9 PE1 2 +NX_P10071 1580 169863 7.02 0 Nucleus;Cilium;Cytoplasm Greig cephalo-poly-syndactyly syndrome;Pallister-Hall syndrome;Polydactyly, postaxial A1;Polydactyly, postaxial B;Polydactyly preaxial 4 PE1 7 +NX_P10072 659 75128 9.44 0 Nucleoplasm;Nucleus;Golgi apparatus;Mitochondrion NA PE1 19 +NX_P10073 491 54561 7.36 0 Nucleus;Nucleus;Cytosol;Cytoskeleton;Cell membrane NA PE1 19 +NX_P10074 688 77054 8.55 0 Nucleoplasm;Cytosol;Telomere;Nucleus NA PE1 1 +NX_P10075 376 41145 9.13 0 Nucleus;Nucleus;Cytoskeleton NA PE1 8 +NX_P10082 97 11145 7.88 0 Secreted NA PE1 17 +NX_P10092 127 13706 10.1 0 Secreted NA PE1 11 +NX_P10109 184 19393 5.51 0 Mitochondrion matrix;Mitochondrion NA PE1 11 +NX_P10114 183 20615 4.73 0 Midbody;Recycling endosome membrane NA PE1 13 +NX_P10124 158 17652 4.81 0 Extracellular space;Cytoplasmic granule;Golgi apparatus NA PE1 10 +NX_P10144 247 27716 9.62 0 Cytoplasmic granule NA PE1 14 +NX_P10145 99 11098 9.1 0 Golgi apparatus;Secreted NA PE1 4 +NX_P10147 92 10085 4.77 0 Secreted NA PE1 17 +NX_P10153 161 18354 9.1 0 Lysosome;Cytoplasmic granule NA PE1 14 +NX_P10155 538 60671 8.27 0 Nucleoplasm;Cytosol;Cytoplasm NA PE1 1 +NX_P10163 310 31326 10.52 0 Secreted NA PE1 12 +NX_P10176 69 7579 10.26 1 Mitochondrion;Mitochondrion inner membrane NA PE1 11 +NX_P10242 640 72341 6.35 0 Cell membrane;Nucleus;Nucleus NA PE1 6 +NX_P10243 752 85887 6.69 0 Nucleus;Cytosol;Nucleolus;Nucleus NA PE1 8 +NX_P10244 700 78764 6.43 0 Nucleus;Cytosol;Nucleoplasm NA PE1 20 +NX_P10253 952 105324 5.62 0 Lysosome;Lysosome membrane Glycogen storage disease 2 PE1 17 +NX_P10265 156 17108 5.86 0 NA NA PE1 5 +NX_P10266 1014 114827 9.11 0 NA NA PE3 5 +NX_P10275 920 99188 6.01 0 Mitochondrion;Cytoplasm;Nucleus Androgen insensitivity syndrome;Androgen insensitivity, partial;Spinal and bulbar muscular atrophy X-linked 1 PE1 X +NX_P10276 462 50771 8.21 0 Nucleus;Cytosol;Nucleus;Cytoplasm NA PE1 17 +NX_P10301 218 23480 6.43 0 Cytoplasmic vesicle;Cell membrane NA PE1 19 +NX_P10314 365 41048 6.02 1 Membrane NA PE1 6 +NX_P10316 365 40977 6.42 1 Membrane NA PE1 6 +NX_P10319 362 40337 5.9 1 Membrane NA PE1 6 +NX_P10321 366 40649 5.71 1 Membrane NA PE1 6 +NX_P10323 421 45847 9.26 0 NA NA PE1 22 +NX_P10398 606 67585 9.2 0 Nucleolus;Nucleus NA PE1 X +NX_P10412 219 21865 11.03 0 Nucleus speckle;Nucleus;Chromosome Rahman syndrome PE1 6 +NX_P10415 239 26266 6.75 1 Endoplasmic reticulum membrane;Mitochondrion outer membrane;Nucleus membrane;Nucleoplasm;Nucleus membrane NA PE1 18 +NX_P10451 314 35423 4.37 0 Golgi apparatus;Golgi apparatus;Secreted NA PE1 4 +NX_P10515 647 68997 7.96 0 Mitochondrion matrix;Mitochondrion Pyruvate dehydrogenase E2 deficiency PE1 11 +NX_P10523 405 45120 6.14 0 NA Night blindness, congenital stationary, Oguchi type 1;Retinitis pigmentosa 47 PE1 2 +NX_P10586 1907 212879 5.92 1 Membrane;Golgi apparatus Aplasia or hypoplasia of the breasts and/or nipples 2 PE1 1 +NX_P10588 404 42979 7.96 0 Nucleus NA PE1 19 +NX_P10589 423 46156 8.62 0 Cytosol;Nucleoplasm;Nucleus Bosch-Boonstra-Schaaf optic atrophy syndrome PE1 5 +NX_P10599 105 11737 4.82 0 Nucleus;Cytoplasm;Nucleolus;Nucleus;Nucleus;Cytosol;Cytoplasm;Secreted NA PE1 9 +NX_P10600 412 47328 8.31 0 Secreted;Cytoplasmic vesicle Arrhythmogenic right ventricular dysplasia, familial, 1;Loeys-Dietz syndrome 5 PE1 14 +NX_P10606 129 13696 9.07 0 Mitochondrion inner membrane;Mitochondrion NA PE1 2 +NX_P10619 480 54466 6.16 0 Lysosome;Cytoplasmic vesicle Galactosialidosis PE1 20 +NX_P10620 155 17599 9.41 4 Endoplasmic reticulum;Mitochondrion;Microsome;Mitochondrion outer membrane;Endoplasmic reticulum membrane NA PE1 12 +NX_P10632 490 55825 8.8 0 Microsome membrane;Endoplasmic reticulum membrane NA PE1 10 +NX_P10635 497 55769 6.77 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 22 +NX_P10636 758 78928 6.25 0 Cytoskeleton;Cell membrane;Nucleus speckle;Cytosol;Cell membrane;Cytoskeleton;Axon Frontotemporal dementia;Pick disease of the brain;Progressive supranuclear palsy 1;Parkinson-dementia syndrome PE1 17 +NX_P10643 843 93518 6.09 0 Secreted Complement component 7 deficiency PE1 5 +NX_P10644 381 42982 5.27 0 Cytosol;Cell membrane Carney complex 1;Intracardiac myxoma;Primary pigmented nodular adrenocortical disease 1;Acrodysostosis 1, with or without hormone resistance PE1 17 +NX_P10645 457 50688 4.58 0 Cytoplasmic vesicle;Secreted;Secretory vesicle lumen;Secretory vesicle membrane;Secreted;Secretory vesicle NA PE1 14 +NX_P10646 304 35015 8.61 0 Secreted;Microsome membrane;Cytoskeleton;Cytosol NA PE1 2 +NX_P10696 532 57377 5.9 0 Cell membrane NA PE1 2 +NX_P10720 104 11553 9.3 0 Secreted NA PE1 4 +NX_P10721 976 109865 6.54 1 Cell membrane;Cell membrane;Cytoplasm Testicular germ cell tumor;Gastrointestinal stromal tumor;Leukemia, acute myelogenous;Piebald trait PE1 4 +NX_P10745 1247 135363 4.98 0 Interphotoreceptor matrix Retinitis pigmentosa 66 PE1 10 +NX_P10746 265 28628 5.35 0 Nucleoplasm;Cytosol Congenital erythropoietic porphyria PE1 10 +NX_P10747 220 25066 9.46 1 Cell surface;Membrane NA PE1 2 +NX_P10767 208 22905 10 0 Extracellular space NA PE1 12 +NX_P10768 282 31463 6.54 0 Golgi apparatus;Cytoplasm;Cytosol;Cytoplasmic vesicle NA PE1 13 +NX_P10809 573 61055 5.7 0 Mitochondrion matrix;Mitochondrion Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, autosomal dominant PE1 2 +NX_P10826 455 50489 8.04 0 Nucleoplasm;Cytoplasm;Nucleus Microphthalmia, syndromic, 12 PE1 3 +NX_P10827 490 54816 6.42 0 Cytosol;Nucleus Hypothyroidism, congenital, non-goitrous, 6 PE1 17 +NX_P10828 461 52788 6.68 0 Nucleus;Nucleus Selective pituitary thyroid hormone resistance;Generalized thyroid hormone resistance;Generalized thyroid hormone resistance autosomal recessive PE1 3 +NX_P10909 449 52495 5.89 0 Mitochondrion membrane;Secreted;Microsome;Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Chromaffin granule NA PE1 8 +NX_P10911 925 107673 5.72 0 Cytoplasm;Membrane NA PE1 X +NX_P10912 638 71500 4.76 1 Cytosol;Cell membrane;Cytosol;Cell membrane;Secreted Laron syndrome;Growth hormone insensitivity, partial PE1 5 +NX_P10914 325 36502 5.22 0 Cytosol;Nucleus;Cytoplasm;Nucleoplasm Gastric cancer PE1 5 +NX_P10915 354 40166 7.1 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 5 +NX_P10916 166 18789 4.92 0 Cytoskeleton;A band Cardiomyopathy, familial hypertrophic 10 PE1 12 +NX_P10966 210 23722 10.03 1 Cell membrane;Cell membrane;Secreted NA PE1 2 +NX_P10997 89 9806 9.83 0 Secreted NA PE1 12 +NX_P11021 654 72333 5.07 0 Cytosol;Cytoplasm;Melanosome;Endoplasmic reticulum lumen NA PE1 9 +NX_P11047 1609 177603 5.01 0 Cell membrane;Endoplasmic reticulum;Basement membrane NA PE1 1 +NX_P11049 281 31703 8.25 4 Membrane NA PE1 19 +NX_P11055 1940 223905 5.62 0 Myofibril Arthrogryposis, distal, 8;Arthrogryposis, distal, 2B;Arthrogryposis, distal, 2A PE1 17 +NX_P11086 282 30855 5.73 0 Cytoplasmic vesicle NA PE1 17 +NX_P11117 423 48344 6.28 1 Lysosome lumen;Lysosome membrane NA PE1 11 +NX_P11137 1827 199526 4.82 0 Cytosol;Nucleolus;Dendrite;Cytoskeleton NA PE1 2 +NX_P11142 646 70898 5.37 0 Nucleolus;Cell membrane;Melanosome;Cytoplasm NA PE1 11 +NX_P11150 499 55914 9.22 0 Secreted Hepatic lipase deficiency PE1 15 +NX_P11161 476 50302 9.02 0 Nucleoplasm;Nucleus Charcot-Marie-Tooth disease 1D;Neuropathy, congenital hypomyelinating or amyelinating;Dejerine-Sottas syndrome PE1 10 +NX_P11166 492 54084 8.93 12 Cell membrane;Cell membrane;Melanosome GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 2;Epilepsy, idiopathic generalized 12;Stomatin-deficient cryohydrocytosis with neurologic defects;Dystonia 9 PE1 1 +NX_P11168 524 57490 8.09 12 Nucleoplasm;Membrane Fanconi-Bickel syndrome PE1 3 +NX_P11169 496 53924 6.84 12 Cell membrane;Cell membrane NA PE1 12 +NX_P11171 864 97017 5.42 0 Cytosol;Cell junction;Cell membrane;Cytoskeleton;Cell cortex;Nucleus Elliptocytosis 1 PE1 1 +NX_P11172 480 52222 6.81 0 Cytosol Orotic aciduria 1 PE1 3 +NX_P11177 359 39233 6.2 0 Cytoplasm;Mitochondrion matrix;Mitochondrion;Nucleoplasm Pyruvate dehydrogenase E1-beta deficiency PE1 3 +NX_P11182 482 53487 8.71 0 Mitochondrion matrix;Mitochondrion Maple syrup urine disease 2 PE1 1 +NX_P11215 1152 127179 6.88 1 Membrane Systemic lupus erythematosus 6 PE1 16 +NX_P11216 843 96696 6.4 0 Cytosol NA PE1 20 +NX_P11217 842 97092 6.57 0 NA Glycogen storage disease 5 PE1 11 +NX_P11226 248 26144 5.39 0 Secreted NA PE1 10 +NX_P11229 460 51421 9.45 7 Postsynaptic cell membrane;Nucleus;Cytosol;Cell membrane NA PE1 11 +NX_P11230 501 56698 5.5 4 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, 2A, slow-channel PE1 17 +NX_P11233 206 23567 6.66 0 Cell membrane;Midbody ring;Cleavage furrow;Cell membrane NA PE1 7 +NX_P11234 206 23409 6.24 0 Midbody;Cell membrane NA PE1 2 +NX_P11245 290 33542 5.6 0 Cytoplasm NA PE1 8 +NX_P11274 1271 142819 6.62 0 Cytosol;Postsynaptic density;Nucleoplasm Leukemia, chronic myeloid PE1 22 +NX_P11277 2137 246468 5.15 0 Cytosol;Golgi apparatus;Cytoskeleton;Cell cortex Spherocytosis 2;Elliptocytosis 3 PE1 14 +NX_P11279 417 44882 9 1 Cell membrane;Endosome membrane;Lysosome membrane;Late endosome NA PE1 13 +NX_P11308 486 54608 7.01 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Ewing sarcoma PE1 21 +NX_P11309 404 45412 6.51 0 Cytosol;Nucleolus;Cell membrane;Cytoplasm;Nucleus NA PE1 6 +NX_P11310 421 46588 8.61 0 Mitochondrion matrix;Mitochondrion Acyl-CoA dehydrogenase medium-chain deficiency PE1 1 +NX_P11362 822 91868 5.82 1 Cytosol;Nucleus;Cell membrane;Cytoplasmic vesicle;Nucleolus Hartsfield syndrome;Trigonocephaly 1;Pfeiffer syndrome;Jackson-Weiss syndrome;Hypogonadotropic hypogonadism 2 with or without anosmia;Encephalocraniocutaneous lipomatosis;Osteoglophonic dysplasia PE1 8 +NX_P11387 765 90726 9.33 0 Nucleus;Nucleolus;Nucleolus;Nucleolus;Nucleoplasm;Nucleus NA PE1 20 +NX_P11388 1531 174385 8.82 0 Nucleus;Nucleoplasm;Nucleolus;Cytoplasm NA PE1 17 +NX_P11413 515 59257 6.39 0 Cytoplasm;Cytosol;Microtubule organizing center;Cytoplasmic vesicle Anemia, non-spherocytic hemolytic, due to G6PD deficiency PE1 X +NX_P11441 157 17777 8.71 0 Cytosol;Nucleus NA PE1 X +NX_P11464 419 47223 8.32 0 Secreted NA PE1 19 +NX_P11465 335 37216 7.66 0 Secreted NA PE1 19 +NX_P11473 427 48289 6.08 0 Nucleoplasm;Nucleus;Cytoplasm Rickets vitamin D-dependent 2A PE1 12 +NX_P11474 423 45510 6.01 0 Cytoskeleton;Nucleus;Nucleolus;Nucleus;Cytoskeleton NA PE1 11 +NX_P11487 239 26887 10.88 0 Secreted Deafness with labyrinthine aplasia, microtia and microdontia PE1 11 +NX_P11488 350 40041 5.4 0 NA Night blindness, congenital stationary, 1G;Night blindness, congenital stationary, autosomal dominant 3 PE1 3 +NX_P11498 1178 129634 6.37 0 Mitochondrion;Mitochondrion matrix Pyruvate carboxylase deficiency PE1 11 +NX_P11509 494 56501 9.25 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 19 +NX_P11511 503 57883 7.2 0 Endoplasmic reticulum;Cytoplasmic vesicle;Membrane Aromatase excess syndrome;Aromatase deficiency PE1 15 +NX_P11532 3685 426750 5.64 0 Sarcolemma;Postsynaptic cell membrane;Cytoskeleton Duchenne muscular dystrophy;Cardiomyopathy, dilated, X-linked 3B;Becker muscular dystrophy PE1 X +NX_P11586 935 101559 6.89 0 Cytosol;Cytoplasm Colorectal cancer;Neural tube defects, folate-sensitive PE1 14 +NX_P11597 493 54756 5.7 0 Extracellular space Hyperalphalipoproteinemia 1 PE1 16 +NX_P11678 715 81040 10.31 0 Cytoplasmic granule Eosinophil peroxidase deficiency PE1 17 +NX_P11684 91 9994 4.99 0 Secreted NA PE1 11 +NX_P11686 197 21053 6.19 0 Surface film Pulmonary surfactant metabolism dysfunction 2;Respiratory distress syndrome in premature infants PE1 8 +NX_P11712 490 55628 8.13 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 10 +NX_P11717 2491 274375 5.64 1 Lysosome membrane;Cytoplasmic vesicle;Golgi apparatus NA PE1 6 +NX_P11766 374 39724 7.45 0 Cytoplasm;Cytoplasm NA PE1 4 +NX_P11801 424 48035 9.82 0 Cell membrane;Cytoplasm;Nucleoplasm;Golgi apparatus;Centrosome;Nucleus speckle;Endoplasmic reticulum membrane NA PE1 16 +NX_P11802 303 33730 6.52 0 Nucleus membrane;Nucleus;Cytosol;Cytoplasm;Nucleolus;Nucleus;Membrane Melanoma, cutaneous malignant 3 PE1 12 +NX_P11831 508 51593 7.83 0 Nucleus;Nucleus NA PE1 6 +NX_P11836 297 33077 5.04 4 Cell membrane;Cell membrane Immunodeficiency, common variable, 5 PE1 11 +NX_P11844 174 20877 8.05 0 NA NA PE1 2 +NX_P11908 318 34769 6.15 0 NA NA PE1 X +NX_P11912 226 25038 4.87 1 Cell membrane Agammaglobulinemia 3, autosomal recessive PE1 19 +NX_P11926 461 51148 5.1 0 Cell membrane;Cytosol NA PE1 2 +NX_P11940 636 70671 9.52 0 Cytoplasm;Nucleus NA PE1 8 +NX_P12004 261 28769 4.57 0 Nucleus;Nucleoplasm;Nucleus Ataxia-telangiectasia-like disorder 2 PE1 20 +NX_P12018 145 16605 6.3 0 NA NA PE1 22 +NX_P12034 268 29551 10.54 0 Cytosol;Nucleus;Secreted;Nucleolus Trichomegaly PE1 4 +NX_P12035 628 64417 6.12 0 NA Corneal dystrophy, Meesmann PE1 12 +NX_P12036 1026 112479 5.99 0 Nucleus;Cytoplasm;Centrosome;Nucleus Amyotrophic lateral sclerosis;Charcot-Marie-Tooth disease 2CC PE1 22 +NX_P12074 109 12155 9.3 0 Mitochondrion;Mitochondrion inner membrane Charcot-Marie-Tooth disease, recessive, intermediate type, D PE1 12 +NX_P12081 509 57411 5.72 0 Cytosol;Cytoplasm Charcot-Marie-Tooth disease 2W;Usher syndrome 3B PE1 5 +NX_P12104 132 15207 6.62 0 Cytoplasm;Cell membrane;Cytosol;Cytoskeleton NA PE1 4 +NX_P12107 1806 181065 5.06 0 Endoplasmic reticulum;Extracellular matrix Marshall syndrome;Stickler syndrome 2;Fibrochondrogenesis 1 PE1 1 +NX_P12109 1028 108529 5.26 0 Cytosol;Extracellular matrix Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1 PE1 21 +NX_P12110 1019 108579 5.85 0 Cytosol;Extracellular matrix;Membrane;Cell membrane Myosclerosis autosomal recessive;Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1 PE1 21 +NX_P12111 3177 343669 6.26 0 Extracellular matrix Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Dystonia 27 PE1 2 +NX_P12235 298 33064 9.78 6 Mitochondrion inner membrane Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2;Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type PE1 4 +NX_P12236 298 32866 9.76 6 Mitochondrion inner membrane NA PE1 X +NX_P12259 2224 251703 5.68 0 Golgi apparatus;Secreted Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;Ischemic stroke;Pregnancy loss, recurrent, 1;Factor V deficiency PE1 1 +NX_P12268 514 55805 6.44 0 Cytosol;Nucleus;Cytoplasm;Cytoplasm NA PE1 3 +NX_P12270 2363 267293 4.97 0 Nucleus membrane;Nucleus envelope;Kinetochore;Nucleus membrane;Nucleus;Nucleus membrane;Nuclear pore complex;Cytoplasm;Spindle NA PE1 1 +NX_P12271 317 36474 4.98 0 Cytosol;Centrosome;Cytoplasm;Nucleoplasm Retinitis punctata albescens;Rod-cone dystrophy Newfoundland;Bothnia retinal dystrophy PE1 15 +NX_P12272 177 20194 10.19 0 Cytosol;Secreted;Nucleoplasm;Nucleus;Cytoplasm;Golgi apparatus Brachydactyly E2 PE1 12 +NX_P12273 146 16572 8.26 0 Secreted NA PE1 7 +NX_P12277 381 42644 5.34 0 Cytoplasm;Cytosol NA PE1 14 +NX_P12314 374 42632 8.09 1 Cell membrane NA PE1 1 +NX_P12318 317 35001 6.19 1 Cell membrane NA PE1 1 +NX_P12319 257 29596 6.23 1 Cell membrane NA PE1 1 +NX_P12429 323 36375 5.63 0 Cytosol NA PE1 4 +NX_P12524 364 40327 5.47 0 Nucleus;Nucleus NA PE1 1 +NX_P12525 358 40868 5.14 0 Nucleus NA PE5 X +NX_P12532 417 47037 8.6 0 Mitochondrion inner membrane NA PE1 15 +NX_P12544 262 28999 9.14 0 Cytoplasmic granule;Secreted NA PE1 5 +NX_P12643 396 44702 9.15 0 Cytoplasmic vesicle;Secreted NA PE1 20 +NX_P12644 408 46555 8.97 0 Extracellular matrix Non-syndromic orofacial cleft 11;Microphthalmia, syndromic, 6 PE1 14 +NX_P12645 472 53372 9.64 0 Secreted NA PE1 4 +NX_P12694 445 50471 8.42 0 Mitochondrion matrix Maple syrup urine disease 1A PE1 19 +NX_P12724 160 18385 10.12 0 Secreted NA PE1 14 +NX_P12755 728 80005 7.73 0 Nucleoplasm;Nucleus;Nucleus Shprintzen-Goldberg craniosynostosis syndrome PE1 1 +NX_P12757 684 76976 6.72 0 Cytosol;Nucleoplasm NA PE1 3 +NX_P12814 892 103058 5.25 0 Cytoplasm;Focal adhesion;Z line;Cytoskeleton;Ruffle;Cell junction;Cell membrane;Cell membrane Bleeding disorder, platelet-type 15 PE1 14 +NX_P12821 1306 149715 5.95 1 Cytoplasmic vesicle;Cytoplasm;Secreted;Cell membrane Intracerebral hemorrhage;Renal tubular dysgenesis;Ischemic stroke;Microvascular complications of diabetes 3 PE1 17 +NX_P12829 197 21565 4.98 0 Cell membrane Atrial fibrillation, familial, 18 PE1 17 +NX_P12830 882 97456 4.58 1 trans-Golgi network;Cell junction;Cell membrane;Endosome;Cell junction;Golgi apparatus;Cell membrane Breast cancer, lobular;Endometrial cancer;Hereditary diffuse gastric cancer;Ovarian cancer PE1 16 +NX_P12838 97 10504 8.3 0 Secreted NA PE1 8 +NX_P12872 115 12920 6.14 0 Secreted NA PE1 6 +NX_P12882 1939 223145 5.59 0 Myofibril NA PE1 17 +NX_P12883 1935 223097 5.63 0 Myofibril;Sarcomere Myopathy, myosin storage, autosomal dominant;Cardiomyopathy, dilated 1S;Myopathy, myosin storage, autosomal recessive;Scapuloperoneal myopathy MYH7-related;Cardiomyopathy, familial hypertrophic 1;Myopathy, distal, 1 PE1 14 +NX_P12931 536 59835 7.1 0 Cell membrane;Mitochondrion inner membrane;Cytosol;Perinuclear region;Cytoskeleton;Nucleus;Cell membrane Thrombocytopenia 6 PE1 20 +NX_P12955 493 54548 5.64 0 Nucleoplasm Prolidase deficiency PE1 19 +NX_P12956 609 69843 6.23 0 Nucleus;Nucleoplasm;Nucleus;Chromosome NA PE1 22 +NX_P12980 280 29938 10.69 0 Golgi apparatus;Nucleus NA PE1 19 +NX_P13010 732 82705 5.55 0 Nucleus;Nucleus;Nucleoplasm;Nucleolus;Chromosome NA PE1 2 +NX_P13051 313 34645 9.37 0 Mitochondrion;Cytosol;Nucleus Immunodeficiency with hyper-IgM 5 PE1 12 +NX_P13056 603 67315 5.89 0 PML body;Cytosol;Nucleus;Cell junction;Nucleus NA PE1 12 +NX_P13073 169 19577 9.52 0 Mitochondrion inner membrane;Mitochondrion NA PE1 16 +NX_P13164 125 13964 7.78 1 Cytosol;Cell membrane NA PE1 11 +NX_P13196 640 70581 8.74 0 Mitochondrion matrix;Nucleoplasm;Mitochondrion NA PE1 3 +NX_P13224 206 21718 9.67 1 Membrane Bernard-Soulier syndrome PE1 22 +NX_P13232 177 20187 8.87 0 Secreted NA PE1 8 +NX_P13236 92 10212 5.13 0 Secreted NA PE1 17 +NX_P13284 250 27964 4.79 0 Cytoplasmic vesicle;Cytosol;Secreted;Lysosome NA PE1 19 +NX_P13349 255 28296 5.9 0 Nucleoplasm;Nucleus NA PE2 12 +NX_P13378 290 31911 8.7 0 Nucleus NA PE1 2 +NX_P13385 188 21169 8.54 0 Secreted;Cell membrane NA PE1 3 +NX_P13473 410 44961 5.35 1 Endosome membrane;Autophagosome membrane;Lysosome membrane;Cell membrane Danon disease PE1 X +NX_P13489 461 49973 4.71 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 11 +NX_P13497 986 111249 6.48 0 Extracellular matrix;trans-Golgi network Osteogenesis imperfecta 13 PE1 8 +NX_P13498 195 21013 9.58 0 Cell membrane Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive PE1 16 +NX_P13500 99 11025 9.4 0 Golgi apparatus;Cytoplasmic vesicle;Secreted NA PE1 17 +NX_P13501 91 9990 9.27 0 Secreted NA PE1 17 +NX_P13521 617 70941 4.67 0 Secreted NA PE1 2 +NX_P13533 1939 223735 5.58 0 Myofibril Cardiomyopathy, dilated 1EE;Cardiomyopathy, familial hypertrophic 14;Sick sinus syndrome 3;Atrial septal defect 3 PE1 14 +NX_P13535 1937 222763 5.59 0 Myofibril Carney complex variant;Arthrogryposis, distal, 7 PE1 17 +NX_P13569 1480 168142 8.91 11 Early endosome membrane;Cell membrane;Recycling endosome membrane;Endoplasmic reticulum membrane;Apical cell membrane Congenital bilateral absence of the vas deferens;Cystic fibrosis PE1 7 +NX_P13584 511 58991 8.47 0 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Microsome membrane NA PE1 1 +NX_P13591 858 94574 4.79 1 Cell membrane;Cytosol;Cell membrane;Secreted;Cell membrane NA PE1 11 +NX_P13598 275 30654 7.09 1 Cytosol;Membrane NA PE1 17 +NX_P13611 3396 372820 4.43 0 Cytoplasmic vesicle;Extracellular matrix Wagner vitreoretinopathy PE1 5 +NX_P13612 1032 114900 6.05 1 Cytoplasmic vesicle;Golgi apparatus;Membrane NA PE1 2 +NX_P13631 454 50342 7.44 0 Nucleus;Nucleoplasm NA PE1 12 +NX_P13637 1013 111749 5.22 10 Cell membrane Dystonia 12;Alternating hemiplegia of childhood 2;Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss PE1 19 +NX_P13639 858 95338 6.41 0 Cytoplasm;Cytosol;Cytoplasm;Cell membrane;Nucleus Spinocerebellar ataxia 26 PE1 19 +NX_P13640 62 6141 8.38 0 NA NA PE1 16 +NX_P13645 584 58827 5.13 0 NA Erythroderma, ichthyosiform, congenital reticular;Ichthyosis annular epidermolytic;Epidermolytic hyperkeratosis PE1 17 +NX_P13646 458 49588 4.91 0 Cytoskeleton White sponge nevus 2 PE1 17 +NX_P13647 590 62378 7.58 0 NA Dowling-Degos disease 1;Epidermolysis bullosa simplex, with migratory circinate erythema;Epidermolysis bullosa simplex, with mottled pigmentation;Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, Weber-Cockayne type;Epidermolysis bullosa simplex, Dowling-Meara type PE1 12 +NX_P13667 645 72932 4.96 0 Endoplasmic reticulum lumen;Melanosome;Endoplasmic reticulum NA PE1 7 +NX_P13671 934 104786 6.39 0 Secreted Complement component 6 deficiency PE1 5 +NX_P13674 534 61049 5.7 0 Endoplasmic reticulum lumen;Mitochondrion;Cytoplasmic vesicle;Endoplasmic reticulum NA PE1 10 +NX_P13682 527 59089 8.44 0 Nucleoplasm;Nucleus NA PE1 3 +NX_P13686 325 36599 8.82 0 Cytosol;Lysosome Spondyloenchondrodysplasia with immune dysregulation PE1 19 +NX_P13688 526 57560 5.65 1 Cell membrane;Lateral cell membrane;Apical cell membrane;Microvillus membrane;Secretory vesicle membrane;Apical cell membrane;Basal cell membrane;Cell junction;Adherens junction;Secreted NA PE1 19 +NX_P13693 172 19595 4.84 0 Cytoplasm NA PE1 13 +NX_P13716 330 36295 6.32 0 NA Acute hepatic porphyria PE1 9 +NX_P13725 252 28484 10.71 0 Secreted NA PE1 22 +NX_P13726 295 33068 6.64 1 Secreted;Cytoplasmic vesicle;Membrane NA PE1 1 +NX_P13727 222 25206 6.32 0 Secreted;Secretory vesicle NA PE1 11 +NX_P13746 365 40937 5.77 1 Membrane NA PE1 6 +NX_P13747 358 40157 5.6 1 Membrane NA PE1 6 +NX_P13760 266 30112 6.71 1 Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane;Late endosome membrane NA PE1 6 +NX_P13761 266 29822 7.04 1 Late endosome membrane;Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane NA PE1 6 +NX_P13762 266 29941 6.95 1 Lysosome membrane;Late endosome membrane;Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane NA PE1 6 +NX_P13765 273 30822 6.31 1 Endosome membrane;Lysosome membrane NA PE1 6 +NX_P13796 627 70288 5.29 0 Cytoskeleton;Cell junction;Cell projection;Ruffle membrane;Cell membrane;Cytoskeleton;Cytosol NA PE1 13 +NX_P13797 630 70811 5.41 0 Cytoplasm;Cytosol;Cytoplasm;Cell membrane Osteoporosis PE1 X +NX_P13798 732 81225 5.29 0 Cytosol;Cytoplasm NA PE1 3 +NX_P13804 333 35080 8.62 0 Mitochondrion matrix;Mitochondrion Glutaric aciduria 2A PE1 15 +NX_P13805 278 32948 5.86 0 Golgi apparatus;Cytosol;Nucleus Nemaline myopathy 5 PE1 19 +NX_P13807 737 83786 5.8 0 Cytosol;Cytoskeleton Muscle glycogen storage disease 0 PE1 19 +NX_P13861 404 45518 4.96 0 Cytoplasm;Cytoplasm;Cell membrane;Microtubule organizing center;Cytoplasmic vesicle;Golgi apparatus NA PE1 3 +NX_P13866 664 73498 7.82 13 Nucleoplasm;Membrane;Cytoplasmic vesicle Congenital glucose/galactose malabsorption PE1 22 +NX_P13928 327 36881 5.56 0 NA NA PE1 10 +NX_P13929 434 46987 7.58 0 Cytoplasm Glycogen storage disease 13 PE1 17 +NX_P13942 1736 171791 5.89 0 Extracellular matrix Deafness, autosomal recessive, 53;Deafness, autosomal dominant, 13;Weissenbacher-Zweymueller syndrome;Otospondylomegaepiphyseal dysplasia;Fibrochondrogenesis 2;Stickler syndrome 3 PE1 6 +NX_P13945 408 43519 9.39 7 Cell membrane NA PE1 8 +NX_P13984 249 28380 9.24 0 Nucleolus;Nucleus;Nucleus;Cytoskeleton;Nucleus NA PE1 13 +NX_P13985 223 24343 12.23 0 NA NA PE5 1 +NX_P13987 128 14177 6.02 0 Cell membrane;Golgi apparatus;Cytoplasmic vesicle;Secreted Hemolytic anemia, CD59-mediated, with or without polyneuropathy PE1 11 +NX_P13994 396 44802 8.47 0 Cytoplasmic vesicle NA PE1 19 +NX_P13995 350 37895 8.86 0 Mitochondrion NA PE1 2 +NX_P14060 373 42252 8.86 1 Mitochondrion membrane;Endoplasmic reticulum membrane NA PE1 1 +NX_P14061 328 34950 5.46 0 Cytosol;Cytoplasm NA PE1 17 +NX_P14091 401 43312 4.69 0 Endosome NA PE1 1 +NX_P14136 432 49880 5.42 0 Cytoskeleton;Cytoplasm Alexander disease PE1 17 +NX_P14138 238 25454 6.24 0 Secreted Waardenburg syndrome 4B;Congenital central hypoventilation syndrome;Hirschsprung disease 4 PE1 20 +NX_P14151 372 42187 6.2 1 Cytosol;Membrane NA PE1 1 +NX_P14174 115 12476 7.73 0 Cytoplasm;Cytosol;Nucleoplasm;Secreted Rheumatoid arthritis systemic juvenile PE1 22 +NX_P14207 255 29280 7.5 0 Cell membrane;Secreted NA PE1 11 +NX_P14209 185 18848 4.58 1 Membrane;Golgi apparatus NA PE1 X +NX_P14210 728 83134 8.22 0 Cytosol;Centrosome Deafness, autosomal recessive, 39 PE1 7 +NX_P14222 555 61377 8.04 0 Cytosol;Cytoplasmic granule lumen;Secreted;Cell membrane;Endosome lumen Familial hemophagocytic lymphohistiocytosis 2 PE1 10 +NX_P14314 528 59425 4.33 0 Endoplasmic reticulum;Endoplasmic reticulum Polycystic liver disease 1 PE1 19 +NX_P14316 349 39354 7.07 0 Cytosol;Nucleoplasm;Nucleus NA PE1 4 +NX_P14317 486 54014 4.74 0 Membrane;Cell membrane;Cytoplasm;Cytosol;Mitochondrion NA PE1 3 +NX_P14324 419 48275 5.83 0 Nucleoplasm;Cytoplasm;Cytosol Porokeratosis 9, multiple types PE1 1 +NX_P14373 513 58490 5.83 0 Nucleolus;Nucleus;Nucleus;Cytoplasm;PML body;Early endosome NA PE1 6 +NX_P14384 443 50514 6.94 0 Cytoplasmic vesicle;Cell membrane NA PE1 12 +NX_P14406 83 9396 9.75 0 Mitochondrion inner membrane;Cell membrane;Mitochondrion NA PE1 6 +NX_P14410 1827 209453 5.38 1 Apical cell membrane Congenital sucrase-isomaltase deficiency PE1 3 +NX_P14415 290 33367 8.57 1 Cell membrane NA PE1 17 +NX_P14416 443 50619 9.55 7 Cell membrane NA PE1 11 +NX_P14543 1247 136377 5.12 0 Basement membrane NA PE1 1 +NX_P14550 325 36573 6.32 0 Cytosol;Nucleoplasm NA PE1 1 +NX_P14555 144 16083 9.44 0 Endoplasmic reticulum;Nucleolus;Nucleus;Cell membrane;Secreted NA PE1 1 +NX_P14598 390 44652 9.2 0 Cytosol;Membrane Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive PE1 7 +NX_P14616 1297 143720 6.03 1 Membrane NA PE1 1 +NX_P14618 531 57937 7.96 0 Cytosol;Cytoplasm;Nucleus;Cytoplasm NA PE1 15 +NX_P14621 99 11140 9.52 0 Cytoplasm;Nucleoplasm NA PE1 2 +NX_P14625 803 92469 4.76 0 Endoplasmic reticulum;Endoplasmic reticulum lumen;Melanosome NA PE1 12 +NX_P14635 433 48337 7.09 0 Cytosol;Cytoplasm;Nucleus;Centrosome NA PE1 5 +NX_P14649 208 22764 5.56 0 Cytoplasmic vesicle NA PE1 12 +NX_P14651 431 44340 9.27 0 Nucleus;Nucleus NA PE1 17 +NX_P14652 356 37914 5.03 0 Nucleus;Nucleus NA PE1 17 +NX_P14653 301 32193 6.45 0 Nucleus Facial paresis, hereditary congenital, 3 PE1 17 +NX_P14672 509 54787 6.48 12 Cell membrane;Endomembrane system;Perinuclear region Diabetes mellitus, non-insulin-dependent PE1 17 +NX_P14678 240 24610 11.2 0 Nucleus;Nucleus;Cytosol Cerebrocostomandibular syndrome PE1 20 +NX_P14679 529 60393 5.71 1 Cytoplasmic vesicle;Melanosome membrane;Melanosome Albinism, oculocutaneous, 1A;Albinism, oculocutaneous, 1B PE1 11 +NX_P14735 1019 117968 6.16 0 Secreted;Cytoplasm;Cell membrane NA PE1 10 +NX_P14770 177 19046 5.89 1 Membrane Bernard-Soulier syndrome PE1 3 +NX_P14778 569 65402 8 1 Membrane;Cell membrane;Cytoplasmic vesicle;Secreted NA PE1 2 +NX_P14780 707 78458 5.69 0 Cytosol;Extracellular matrix Intervertebral disc disease;Metaphyseal anadysplasia 2 PE1 20 +NX_P14784 551 61117 4.93 1 Membrane NA PE1 22 +NX_P14854 86 10192 6.54 0 Mitochondrion;Mitochondrion intermembrane space Mitochondrial complex IV deficiency PE1 19 +NX_P14859 743 76472 6.34 0 Endoplasmic reticulum;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 1 +NX_P14866 589 64133 8.46 0 Nucleus;Nucleoplasm;Nucleoplasm;Cytoplasm NA PE1 19 +NX_P14867 456 51802 9.27 4 Postsynaptic cell membrane;Cell membrane;Cytoplasmic vesicle membrane Juvenile myoclonic epilepsy 5;Epileptic encephalopathy, early infantile, 19;Epilepsy, idiopathic generalized 13;Epilepsy, childhood absence 4 PE1 5 +NX_P14868 501 57136 6.11 0 Cytosol;Cytosol Hypomyelination with brainstem and spinal cord involvement and leg spasticity PE1 2 +NX_P14902 403 45326 6.87 0 Cytosol NA PE1 8 +NX_P14920 347 39474 6.36 0 Peroxisome Schizophrenia PE1 12 +NX_P14921 441 50408 5.04 0 Cytoplasm;Nucleoplasm;Nucleus NA PE1 11 +NX_P14923 745 81745 5.75 0 Adherens junction;Cell junction;Cytoplasmic vesicle;Cell membrane;Desmosome;Cytoskeleton;Membrane Arrhythmogenic right ventricular dysplasia, familial, 12;Naxos disease PE1 17 +NX_P14927 111 13530 8.73 0 Mitochondrion;Cytoplasm;Nucleus;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 3 PE1 8 +NX_P15018 202 22008 9.44 0 Cytosol;Secreted NA PE1 22 +NX_P15036 469 53001 4.93 0 Nucleus;Cell membrane;Nucleoplasm NA PE1 21 +NX_P15056 766 84437 7.29 0 Cytoplasm;Cytoplasmic vesicle;Cytosol;Cell membrane;Nucleus Lung cancer;Cardiofaciocutaneous syndrome 1;Familial non-Hodgkin lymphoma;Noonan syndrome 7;LEOPARD syndrome 3;Colorectal cancer PE1 7 +NX_P15085 419 47140 5.45 0 Secreted NA PE1 7 +NX_P15086 417 47368 6.16 0 Secreted NA PE1 3 +NX_P15088 417 48670 9.08 0 Secretory vesicle NA PE1 3 +NX_P15090 132 14719 6.59 0 Cytoplasm;Nucleus NA PE1 8 +NX_P15104 373 42064 6.43 0 Mitochondrion;Cytosol;Cytoplasm;Mitochondrion Congenital systemic glutamine deficiency PE1 1 +NX_P15121 316 35853 6.51 0 Cytoplasm;Cytosol;Nucleus NA PE1 7 +NX_P15144 967 109540 5.31 1 Cell membrane;Cell membrane;Nucleus NA PE1 15 +NX_P15151 417 45303 6.07 1 Cell membrane;Cytoplasmic vesicle;Cell membrane;Nucleoplasm;Secreted NA PE1 19 +NX_P15153 192 21429 7.52 0 Cytoplasm Neutrophil immunodeficiency syndrome PE1 22 +NX_P15169 458 52286 6.86 0 Extracellular space;Nucleolus;Nucleus Carboxypeptidase N deficiency PE1 10 +NX_P15170 499 55756 5.45 0 Cytoplasm;Cytoplasmic vesicle;Cytosol NA PE1 16 +NX_P15172 320 34501 5.56 0 Nucleus;Nucleus;Cytosol;Nucleoplasm NA PE1 11 +NX_P15173 224 25037 5.45 0 Nucleoplasm;Nucleus NA PE1 1 +NX_P15248 144 15909 8.93 0 Secreted NA PE2 5 +NX_P15259 253 28766 8.99 0 Cytosol;Nucleus;Nucleolus Glycogen storage disease 10 PE1 7 +NX_P15260 489 54405 4.83 1 Cell membrane;Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane Immunodeficiency 27A;Immunodeficiency 27B PE1 6 +NX_P15289 507 53588 5.65 0 Lysosome;Cytosol;Golgi apparatus Leukodystrophy metachromatic;Multiple sulfatase deficiency PE1 22 +NX_P15291 398 43920 8.88 1 Secreted;Golgi stack membrane;Cell membrane;Cell surface;Golgi apparatus;Filopodium Congenital disorder of glycosylation 2D PE1 9 +NX_P15309 386 44566 5.83 0 Lysosome membrane;Cell membrane;Secreted NA PE1 3 +NX_P15311 586 69413 5.94 0 Cytoskeleton;Apical cell membrane;Cell projection;Microvillus membrane;Ruffle membrane;Cell cortex;Cell membrane NA PE1 6 +NX_P15313 513 56833 5.44 0 Nucleus membrane;Endomembrane system;Nucleus Renal tubular acidosis, distal, with progressive nerve deafness PE1 2 +NX_P15328 257 29819 8.3 0 Apical cell membrane;Nucleus membrane;Cell membrane;Secreted;Cytoplasmic vesicle;Clathrin-coated vesicle;Endosome Neurodegeneration due to cerebral folate transport deficiency PE1 11 +NX_P15336 505 54537 7.75 0 Nucleoplasm;Cytoplasm;Mitochondrion outer membrane;Nucleus NA PE1 2 +NX_P15374 230 26183 4.84 0 Cytoplasm;Cytosol;Nucleus NA PE1 13 +NX_P15382 129 14675 6.83 1 Membrane raft;Cell membrane;Apical cell membrane Jervell and Lange-Nielsen syndrome 2;Long QT syndrome 5 PE1 21 +NX_P15391 556 61128 4.87 1 Membrane Immunodeficiency, common variable, 3 PE1 16 +NX_P15407 271 29413 8.21 0 Cytoplasm;Nucleus;Nucleus;Nucleoplasm NA PE1 11 +NX_P15408 326 35193 7.03 0 Nucleus;Nucleus NA PE1 2 +NX_P15421 78 8463 9.51 1 Membrane NA PE2 4 +NX_P15428 266 28977 5.56 0 Nucleoplasm;Cytosol;Cytoplasm Hypertrophic osteoarthropathy, primary, autosomal recessive, 1;Isolated congenital nail clubbing;Cranioosteoarthropathy PE1 4 +NX_P15498 845 98314 6.2 0 Cytosol NA PE1 19 +NX_P15502 786 68469 10.4 0 Mitochondrion;Extracellular matrix;Cell membrane Supravalvular aortic stenosis;Cutis laxa, autosomal dominant, 1 PE1 7 +NX_P15509 400 46207 7.91 1 Secreted;Cell membrane Pulmonary surfactant metabolism dysfunction 4 PE1 X +NX_P15514 252 27895 7.01 1 Mitochondrion;Membrane NA PE1 4 +NX_P15515 57 6963 9.1 0 Secreted NA PE1 4 +NX_P15516 51 6149 10.09 0 Secreted;Cytoplasmic vesicle NA PE1 4 +NX_P15529 392 43747 6.34 1 Cell membrane;Acrosome inner membrane Hemolytic uremic syndrome atypical 2 PE1 1 +NX_P15531 152 17149 5.83 0 Cytoplasm;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA PE1 17 +NX_P15538 503 57573 9.4 0 Mitochondrion membrane Adrenal hyperplasia 4;Hyperaldosteronism, familial, 1 PE1 8 +NX_P15559 274 30868 8.91 0 Cytoplasm;Cytosol;Cytoplasm NA PE1 16 +NX_P15586 552 62082 8.6 0 Lysosome Mucopolysaccharidosis 3D PE1 12 +NX_P15621 663 76524 9 0 Cytosol;Nucleoplasm;Nucleus;Cytoskeleton NA PE1 19 +NX_P15622 560 63468 8.65 0 Nucleus speckle;Nucleus NA PE1 8 +NX_P15692 232 27042 9.21 0 Secreted Microvascular complications of diabetes 1 PE1 6 +NX_P15735 406 46442 5.95 0 Cytosol Glycogen storage disease 9C PE1 16 +NX_P15812 388 43626 8.87 1 Early endosome;Late endosome;Lysosome lumen;Golgi apparatus membrane NA PE1 1 +NX_P15813 335 37717 8.43 1 Endoplasmic reticulum;Cell membrane;Basolateral cell membrane;Endosome membrane;Lysosome membrane;Endoplasmic reticulum membrane NA PE1 1 +NX_P15814 213 22963 10.1 0 Endoplasmic reticulum;Secreted Agammaglobulinemia 2, autosomal recessive PE1 22 +NX_P15822 2718 296865 7.98 0 Nucleus;Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA PE1 6 +NX_P15848 533 59687 8.43 0 Lysosome;Cell surface Mucopolysaccharidosis 6;Multiple sulfatase deficiency PE1 5 +NX_P15863 534 55499 9.9 0 Nucleus Otofaciocervical syndrome 2 PE1 20 +NX_P15880 293 31324 10.25 0 Cytoplasm;Cytosol;Endoplasmic reticulum NA PE1 16 +NX_P15882 459 53172 6.51 0 Cytosol Duane retraction syndrome 2 PE1 2 +NX_P15884 667 71308 6.51 0 Cytosol;Nucleus;Nucleoplasm Pitt-Hopkins syndrome;Corneal dystrophy, Fuchs endothelial, 3 PE1 18 +NX_P15907 406 46605 9.13 1 Secreted;Golgi stack membrane NA PE1 3 +NX_P15918 1043 119097 8.94 0 Nucleus Omenn syndrome;Combined cellular and humoral immune defects with granulomas;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive;Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity PE1 11 +NX_P15923 654 67600 6 0 Nucleus;Nucleoplasm Agammaglobulinemia 8, autosomal dominant PE1 19 +NX_P15924 2871 331774 6.44 0 Cell junction;Desmosome;Cytoskeleton;Cell membrane Arrhythmogenic right ventricular dysplasia, familial, 8;Keratoderma, palmoplantar, striate 2;Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis;Cardiomyopathy, dilated, with woolly hair and keratoderma;Skin fragility-woolly hair syndrome;Epidermolysis bullosa, lethal acantholytic PE1 6 +NX_P15927 270 29247 5.75 0 Nucleus;Nucleus;PML body;Nucleus;Nucleoplasm NA PE1 1 +NX_P15941 1255 122102 6.96 1 Cell membrane;Cytoplasmic vesicle;Nucleus;Cytoplasm;Cell membrane;Apical cell membrane;Secreted Medullary cystic kidney disease 1 PE1 1 +NX_P15954 63 7246 10.29 1 Mitochondrion;Mitochondrion inner membrane NA PE1 5 +NX_P15976 413 42751 9.03 0 Nucleus Anemia without thrombocytopenia, X-linked;X-linked dyserythropoietic anemia and thrombocytopenia;Thrombocytopenia with beta-thalassemia, X-linked PE1 X +NX_P16035 220 24399 7.46 0 Cytoplasm;Secreted NA PE1 17 +NX_P16050 662 74804 6.14 0 Lipid droplet;Cell membrane;Cytosol NA PE1 17 +NX_P16066 1061 118919 6.19 1 Membrane;Cell membrane;Nucleolus;Nucleus NA PE1 1 +NX_P16070 742 81538 5.13 1 Cell membrane;Golgi apparatus;Cell membrane;Cell membrane;Golgi apparatus NA PE1 11 +NX_P16083 231 25919 5.87 0 Cytoplasm;Cytosol;Nucleoplasm NA PE1 6 +NX_P16104 143 15145 10.74 0 Nucleoplasm;Nucleus speckle;Nucleus;Chromosome NA PE1 11 +NX_P16109 830 90834 6.17 1 Membrane Ischemic stroke PE1 1 +NX_P16112 2415 250193 4.1 0 Extracellular matrix Spondyloepiphyseal dysplasia type Kimberley;Osteochondritis dissecans short stature and early-onset osteoarthritis;Spondyloepimetaphyseal dysplasia, aggrecan type PE1 15 +NX_P16118 471 54681 6.14 0 NA NA PE1 X +NX_P16144 1822 202167 5.74 1 Nucleus;Cell membrane;Cell membrane;Hemidesmosome;Cell membrane;Cell junction Epidermolysis bullosa letalis, with pyloric atresia;Generalized atrophic benign epidermolysis bullosa PE1 17 +NX_P16150 400 40322 5.01 1 Membrane;Golgi apparatus;Cell membrane;Cell junction NA PE1 16 +NX_P16152 277 30375 8.55 0 Cytoplasm;Nucleus;Cytosol NA PE1 21 +NX_P16157 1881 206265 5.65 0 Sarcoplasmic reticulum;M line;Membrane;Cytoskeleton Spherocytosis 1 PE1 8 +NX_P16188 365 40905 5.73 1 Membrane NA PE1 6 +NX_P16189 365 41004 6.02 1 Membrane NA PE1 6 +NX_P16190 365 40892 6.22 1 Membrane NA PE1 6 +NX_P16219 412 44297 8.13 0 Mitochondrion;Mitochondrion matrix;Nucleoplasm Acyl-CoA dehydrogenase short-chain deficiency PE1 12 +NX_P16220 341 36688 5.46 0 Nucleus;Nucleoplasm Angiomatoid fibrous histiocytoma PE1 2 +NX_P16233 465 51157 6.27 0 Secreted Pancreatic lipase deficiency PE1 10 +NX_P16234 1089 122670 5.05 1 Cell junction;Cell membrane;Nucleus;Cell membrane Gastrointestinal stromal tumor PE1 4 +NX_P16260 332 36224 9.87 6 Mitochondrion inner membrane;Mitochondrion NA PE1 10 +NX_P16278 677 76075 6.1 0 Perinuclear region;Lysosome;Cytoplasmic vesicle;Golgi apparatus GM1-gangliosidosis 3;GM1-gangliosidosis 1;GM1-gangliosidosis 2;Mucopolysaccharidosis 4B PE1 3 +NX_P16284 738 82536 6.55 1 Cell membrane;Cell junction;Membrane raft NA PE1 17 +NX_P16298 524 59024 5.6 0 Mitochondrion NA PE1 10 +NX_P16333 377 42864 6.06 0 Cytosol;Cell membrane;Cytoplasm;Endoplasmic reticulum;Nucleus NA PE1 3 +NX_P16383 781 89385 5.71 0 Cytosol;Nucleoplasm;Nucleoplasm;Nucleolus NA PE1 2 +NX_P16389 499 56717 4.78 6 Synapse;Cell membrane;Endoplasmic reticulum membrane;Lamellipodium membrane;Synaptosome;Membrane;Axon;Paranodal septate junction;Presynaptic cell membrane;Dendrite Epileptic encephalopathy, early infantile, 32 PE1 1 +NX_P16401 226 22580 10.91 0 Nucleoplasm;Nucleus;Chromosome NA PE1 6 +NX_P16402 221 22350 11.02 0 Nucleus;Chromosome NA PE1 6 +NX_P16403 213 21365 10.94 0 Chromosome;Nucleus;Nucleolus;Nucleus NA PE1 6 +NX_P16410 223 24656 6.7 1 Cell membrane Systemic lupus erythematosus;Celiac disease 3;Autoimmune lymphoproliferative syndrome 5;Diabetes mellitus, insulin-dependent, 12 PE1 2 +NX_P16415 610 70270 9.04 0 Nucleus NA PE1 19 +NX_P16422 314 34932 7.42 1 Cell membrane;Lateral cell membrane;Tight junction Diarrhea 5, with tufting enteropathy, congenital;Hereditary non-polyposis colorectal cancer 8 PE1 2 +NX_P16435 677 76690 5.38 1 Endoplasmic reticulum;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cytosol;Nucleoplasm Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis;Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency PE1 7 +NX_P16442 354 40934 9.14 1 Golgi stack membrane;Secreted NA PE1 9 +NX_P16444 411 45674 5.75 0 Microvillus membrane;Apical cell membrane;Cell junction;Nucleus NA PE1 16 +NX_P16452 691 77009 8.39 0 Cytoskeleton;Cell membrane Spherocytosis 5 PE1 15 +NX_P16455 207 21646 8.28 0 Nucleoplasm;Nucleus NA PE1 10 +NX_P16471 622 69506 5.23 1 Secreted;Membrane Multiple fibroadenomas of the breast;Hyperprolactinemia PE1 5 +NX_P16473 764 86830 6.56 7 Cell membrane;Basolateral cell membrane Hypothyroidism, congenital, non-goitrous, 1;Familial gestational hyperthyroidism;Hyperthyroidism, non-autoimmune PE1 14 +NX_P16499 860 99547 5.48 0 Cell membrane Retinitis pigmentosa 43 PE1 5 +NX_P16519 638 70565 6.04 0 Secretory vesicle;Cytoplasmic vesicle NA PE1 20 +NX_P16520 340 37221 5.39 0 NA Night blindness, congenital stationary, 1H PE1 12 +NX_P16562 243 27259 6.09 0 Secreted NA PE1 6 +NX_P16581 610 66655 5.2 1 Cell membrane NA PE1 1 +NX_P16591 822 94638 6.72 0 Cytosol;Cell cortex;Cell junction;Membrane;Nucleus;Cell membrane;Cytoplasm;Cytoskeleton;Cell projection NA PE1 5 +NX_P16615 1042 114757 5.23 10 Nucleoplasm;Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane Acrokeratosis verruciformis;Darier disease PE1 12 +NX_P16619 93 10161 4.77 0 Secreted NA PE1 17 +NX_P16662 529 60695 8.54 1 Microsome membrane;Endoplasmic reticulum membrane NA PE1 4 +NX_P16671 472 53053 8.19 2 Cell membrane;Membrane raft;Golgi apparatus;Apical cell membrane Coronary heart disease 7;Platelet glycoprotein IV deficiency PE1 7 +NX_P16860 134 14726 10.34 0 Secreted NA PE1 1 +NX_P16870 476 53151 5.03 0 Centrosome;Nucleoplasm;Secretory vesicle membrane;Secreted;Nucleus;Cytoplasmic vesicle NA PE1 4 +NX_P16871 459 51581 5.27 1 Secreted;Cell membrane;Cell membrane Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive;Multiple sclerosis 3 PE1 5 +NX_P16885 1265 147870 6.21 0 Cytoplasmic vesicle Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated;Familial cold autoinflammatory syndrome 3 PE1 16 +NX_P16930 419 46374 6.46 0 Cytosol Tyrosinemia 1 PE1 15 +NX_P16949 149 17303 5.76 0 Nucleus;Cytoskeleton;Cytosol;Cytoplasm NA PE1 1 +NX_P16989 372 40090 9.77 0 Nucleus;Cytoplasm;Cytosol;Cytoplasm;Nucleus NA PE1 12 +NX_P17010 805 90522 5.71 0 Nucleus NA PE1 X +NX_P17014 697 81202 8.12 0 Nucleus;Nucleoplasm;Centrosome NA PE1 7 +NX_P17017 642 75353 9.36 0 Cytosol;Nucleus;Nucleus NA PE1 19 +NX_P17019 499 57357 9.5 0 Nucleus NA PE1 19 +NX_P17020 682 76472 8.31 0 Nucleolus;Nucleus;Nucleus NA PE1 8 +NX_P17021 662 77204 8.81 0 Nucleus NA PE1 19 +NX_P17022 549 62288 5.65 0 Cell membrane;Nucleus;Golgi apparatus;Cytosol;Nucleoplasm NA PE1 17 +NX_P17023 458 52449 7.98 0 Mitochondrion;Nucleus NA PE1 16 +NX_P17024 532 61567 8.94 0 Nucleus;Cell membrane;Nucleoplasm NA PE1 19 +NX_P17025 639 73646 8.97 0 Nucleus;Nucleus NA PE1 X +NX_P17026 224 25915 10.06 0 Nucleus;Nucleus NA PE1 10 +NX_P17027 643 73059 8.49 0 Cytosol;Nucleus NA PE1 16 +NX_P17028 368 42155 5.82 0 Nucleus;Nucleus NA PE1 18 +NX_P17029 563 63630 6.6 0 Nucleus;Nucleus;Mitochondrion;Nucleus NA PE1 7 +NX_P17030 456 53545 9.22 0 Nucleus;Nucleoplasm;Golgi apparatus NA PE2 10 +NX_P17031 533 61282 9.12 0 Nucleus;Mitochondrion;Nucleus NA PE1 12 +NX_P17032 561 65418 8.53 0 Cytoplasmic vesicle;Nucleus NA PE1 10 +NX_P17035 718 83658 9.25 0 Nucleus NA PE1 19 +NX_P17036 446 50916 7.31 0 Nucleoplasm;Nucleus NA PE1 7 +NX_P17038 809 94124 9.35 0 Nucleus;Nucleus NA PE2 19 +NX_P17039 623 71417 9.27 0 Nucleus;Cytosol;Nucleoplasm NA PE1 19 +NX_P17040 1043 117541 6.01 0 Nucleus;Nucleoplasm NA PE1 1 +NX_P17041 273 31029 9.52 0 Nucleus;Nucleus;Nucleoplasm NA PE1 10 +NX_P17050 411 46565 4.98 0 Lysosome Kanzaki disease;Schindler disease PE1 22 +NX_P17066 643 71028 5.81 0 NA NA PE1 1 +NX_P17081 205 22659 5.94 0 Cytoplasm;Cell membrane;Cytosol;Cytoplasmic vesicle NA PE1 2 +NX_P17096 107 11676 10.31 0 Nucleus;Chromosome;Nucleus;Nucleus;Nucleolus NA PE1 6 +NX_P17097 686 77887 8.67 0 Nucleus;Mitochondrion NA PE1 8 +NX_P17098 575 64970 7.04 0 Nucleus;Nucleoplasm;Nucleus NA PE1 19 +NX_P17152 192 21541 6.98 2 Cell membrane;Mitochondrion;Mitochondrion inner membrane NA PE1 17 +NX_P17174 413 46248 6.53 0 Cytoplasm;Nucleoplasm;Cytosol NA PE1 10 +NX_P17181 557 63525 5.58 1 Cell membrane;Cytosol;Late endosome;Lysosome NA PE1 21 +NX_P17213 487 53900 9.41 0 Secreted;Cytoplasmic granule membrane NA PE1 20 +NX_P17252 672 76750 6.61 0 Cell membrane;Cytosol;Cytoplasm;Cell membrane;Mitochondrion membrane;Nucleus NA PE1 17 +NX_P17275 347 35879 9.27 0 Nucleoplasm;Nucleus NA PE1 19 +NX_P17301 1181 129295 5.16 1 Cytosol;Nucleus;Membrane NA PE1 5 +NX_P17302 382 43008 8.96 4 Cell membrane;Gap junction;Endoplasmic reticulum Atrioventricular septal defect 3;Craniometaphyseal dysplasia, autosomal recessive;Hypoplastic left heart syndrome 1;Syndactyly 3;Hallermann-Streiff syndrome;Palmoplantar keratoderma and congenital alopecia 1;Oculodentodigital dysplasia;Oculodentodigital dysplasia, autosomal recessive;Erythrokeratodermia variabilis et progressiva 3 PE1 6 +NX_P17342 541 59808 5.93 1 Cytosol;Membrane NA PE1 5 +NX_P17405 629 69752 6.9 0 Secreted;Lysosome Niemann-Pick disease A;Niemann-Pick disease B PE1 11 +NX_P17480 764 89406 5.63 0 Nucleolus;Nucleolus NA PE1 17 +NX_P17481 243 27574 8.48 0 Nucleus;Nucleoplasm NA PE1 17 +NX_P17482 250 28059 9.01 0 Nucleus;Nucleoplasm;Mitochondrion NA PE1 17 +NX_P17483 251 27604 9.82 0 Nucleus;Nucleus;Centrosome NA PE1 17 +NX_P17509 224 25432 8.45 0 Nucleus;Golgi apparatus;Nucleus NA PE1 17 +NX_P17516 323 37067 6.46 0 Cytoplasm 46,XY sex reversal 8 PE1 10 +NX_P17535 347 35174 6.86 0 Nucleus;Nucleus NA PE1 19 +NX_P17538 263 27713 6.79 0 Extracellular space NA PE2 16 +NX_P17540 419 47504 8.46 0 Mitochondrion inner membrane NA PE1 5 +NX_P17542 331 34271 7.81 0 Nucleus;Nucleus NA PE1 1 +NX_P17544 494 52967 8.88 0 Nucleus;Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 12 +NX_P17568 137 16402 9.1 0 Cytoplasm;Mitochondrion inner membrane;Mitochondrion intermembrane space NA PE1 19 +NX_P17600 705 74111 9.84 0 Synapse;Golgi apparatus Epilepsy X-linked, with variable learning disabilities and behavior disorders PE1 X +NX_P17612 351 40590 8.84 0 Cytoplasm;Cell membrane;Nucleus;Mitochondrion;Membrane;Flagellum;Acrosome Primary pigmented nodular adrenocortical disease 4 PE1 19 +NX_P17643 537 60724 5.62 1 Cytoplasmic vesicle;Melanosome membrane;Melanosome Albinism, oculocutaneous, 3 PE1 9 +NX_P17655 700 79995 4.87 0 Cytoplasm;Cell membrane;Cytosol NA PE1 1 +NX_P17658 529 58729 4.9 6 Cell membrane NA PE1 12 +NX_P17661 470 53536 5.21 0 Cytoplasm;Cytoskeleton;Z line;Sarcolemma;Nucleus Limb-girdle muscular dystrophy 2R;Cardiomyopathy, dilated 1I;Myopathy, myofibrillar, 1;Neurogenic scapuloperoneal syndrome Kaeser type PE1 2 +NX_P17676 345 36106 8.55 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 20 +NX_P17677 238 24803 4.64 0 Cytoplasm;Cell membrane;Cell membrane;Synapse;Cell membrane;Growth cone membrane;Filopodium membrane NA PE1 3 +NX_P17693 338 38224 5.47 1 Cell membrane;Secreted NA PE1 6 +NX_P17706 415 48473 8.51 0 Nucleoplasm;Endoplasmic reticulum;Cell membrane;Endoplasmic reticulum-Golgi intermediate compartment;Nucleus;Cytoplasm NA PE1 18 +NX_P17707 334 38340 5.71 0 Nucleoplasm NA PE1 6 +NX_P17735 454 50399 5.92 0 NA Tyrosinemia 2 PE1 16 +NX_P17752 444 50985 6.77 0 Cytosol NA PE1 11 +NX_P17787 502 57019 6.33 4 Postsynaptic cell membrane;Cell membrane Epilepsy, nocturnal frontal lobe, 3 PE1 1 +NX_P17812 591 66690 6.02 0 Cytosol;Cytoskeleton Immunodeficiency 24 PE1 1 +NX_P17813 658 70578 6.14 1 Cell membrane Telangiectasia, hereditary hemorrhagic, 1 PE1 9 +NX_P17844 614 69148 9.06 0 Nucleus;Nucleolus;Nucleoplasm;Nucleolus NA PE1 17 +NX_P17858 780 85018 7.26 0 Cytoplasm;Nucleolus;Mitochondrion NA PE1 21 +NX_P17861 261 28695 9.71 1 Nucleus;Nucleus;Cytoplasm;Endoplasmic reticulum;Nucleus;Cytoplasm;Endoplasmic reticulum membrane;Endoplasmic reticulum membrane;Membrane Major affective disorder 7 PE1 22 +NX_P17900 193 20838 5.17 0 Lysosome GM2-gangliosidosis AB PE1 5 +NX_P17927 2039 223663 6.57 1 Membrane NA PE1 1 +NX_P17931 250 26152 8.58 0 Nucleus;Cytoplasm;Nucleus;Cytoplasm;Cell membrane;Secreted;Nucleoplasm;Cytosol NA PE1 14 +NX_P17936 291 31674 9.03 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Secreted NA PE1 7 +NX_P17947 270 31083 6.31 0 Nucleus;Nucleoplasm NA PE1 11 +NX_P17948 1338 150769 8.66 1 Cell membrane;Cytoskeleton;Secreted;Cell membrane;Endosome;Cytoplasm NA PE1 13 +NX_P17980 439 49204 5.13 0 Nucleus;P-body;Cytosol;Nucleus;Cytoplasm NA PE1 11 +NX_P17987 556 60344 5.8 0 Cytoplasm;Cytoplasm;Centrosome NA PE1 6 +NX_P18031 435 49967 5.88 0 Endoplasmic reticulum;Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 20 +NX_P18054 663 75694 5.82 0 Nucleus speckle;Cytosol;Cytosol;Membrane Esophageal cancer;Colorectal cancer PE1 17 +NX_P18065 325 34814 7.48 0 Endoplasmic reticulum;Secreted NA PE1 2 +NX_P18074 760 86909 6.72 0 Nucleoplasm;Nucleus;Spindle Xeroderma pigmentosum complementation group D;Trichothiodystrophy 1, photosensitive;Cerebro-oculo-facio-skeletal syndrome 2 PE1 19 +NX_P18075 431 49313 7.74 0 Nucleolus;Cytoplasmic vesicle;Nucleus;Secreted NA PE1 20 +NX_P18077 110 12538 11.07 0 NA Diamond-Blackfan anemia 5 PE1 3 +NX_P18084 799 88054 5.72 1 Cell membrane;Mitochondrion;Membrane NA PE1 3 +NX_P18085 180 20511 6.6 0 Golgi apparatus;Golgi apparatus;Membrane NA PE1 3 +NX_P18089 450 49954 8.8 7 Cell membrane Epilepsy, familial adult myoclonic, 2 PE1 2 +NX_P18124 248 29226 10.66 0 Nucleolus;Cytosol;Endoplasmic reticulum NA PE1 8 +NX_P18146 543 57507 8.51 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 5 +NX_P18206 1134 123799 5.5 0 Cytoplasm;Cytoskeleton;Focal adhesion;Sarcolemma;Cell membrane;Focal adhesion;Adherens junction Cardiomyopathy, familial hypertrophic 15;Cardiomyopathy, dilated 1W PE1 10 +NX_P18283 190 21954 7.64 0 Cytoplasm;Nucleoplasm;Cytosol NA PE1 14 +NX_P18405 259 29459 9.19 5 Microsome membrane;Endoplasmic reticulum membrane NA PE1 5 +NX_P18428 481 53384 6.23 0 Secreted;Cytoplasmic granule membrane NA PE1 20 +NX_P18433 802 90600 6.26 1 Membrane;Nucleus;Cytoplasmic vesicle NA PE1 20 +NX_P18440 290 33899 6.09 0 Cytoplasm NA PE1 8 +NX_P18462 365 41218 6.09 1 Membrane NA PE1 6 +NX_P18463 362 40456 5.78 1 Membrane NA PE1 6 +NX_P18464 362 40566 5.96 1 Membrane NA PE1 6 +NX_P18465 362 40224 5.89 1 Membrane NA PE1 6 +NX_P18505 474 54235 8.88 4 Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, early infantile, 45 PE1 4 +NX_P18507 467 54162 8.72 4 Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane;Dendrite Generalized epilepsy with febrile seizures plus 3;Epilepsy, childhood absence 2;Febrile seizures, familial, 8 PE1 5 +NX_P18509 176 18835 9.83 0 Secreted NA PE1 18 +NX_P18510 177 20055 5.83 0 Secreted;Cytoplasm Microvascular complications of diabetes 4;Interleukin 1 receptor antagonist deficiency PE1 2 +NX_P18545 87 9643 9.52 0 NA Retinitis pigmentosa 57 PE1 17 +NX_P18564 788 85936 5.34 1 Centrosome;Nucleoplasm;Cell junction;Membrane;Focal adhesion Amelogenesis imperfecta 1H PE1 2 +NX_P18577 417 45560 9.45 11 Membrane NA PE1 1 +NX_P18583 2426 263830 5.5 0 Nucleus;Nucleus speckle;Nucleus speckle ZTTK syndrome PE1 21 +NX_P18615 380 43240 9.36 0 Nucleus;Nucleus;Nucleoplasm NA PE1 6 +NX_P18621 184 21397 10.18 0 Cytosol;Endoplasmic reticulum NA PE1 18 +NX_P18627 525 57449 8.14 1 Membrane NA PE1 12 +NX_P18669 254 28804 6.67 0 NA NA PE1 10 +NX_P18754 421 44969 7.18 0 Nucleus;Cytoplasm;Nucleus membrane;Nucleus NA PE1 1 +NX_P18825 462 49522 10.32 7 Cell membrane NA PE2 4 +NX_P18827 310 32462 4.53 1 Focal adhesion;Membrane;Secreted;Exosome NA PE1 2 +NX_P18846 271 29233 8.44 0 Nucleoplasm;Nucleus;Nucleus Angiomatoid fibrous histiocytoma PE1 12 +NX_P18847 181 20576 8.8 0 Nucleus;Nucleolus;Nucleus NA PE1 1 +NX_P18848 351 38590 4.83 0 Cytosol;Microtubule organizing center;Cell membrane;Nucleus;Centrosome;Cytoplasm NA PE1 22 +NX_P18850 670 74585 8.36 1 Cytosol;Endoplasmic reticulum membrane;Nucleus Achromatopsia 7 PE1 1 +NX_P18858 919 101736 5.49 0 Golgi apparatus;Nucleus;Cytoplasmic vesicle;Nucleoplasm NA PE1 19 +NX_P18859 108 12588 9.52 0 Mitochondrion inner membrane;Mitochondrion;Mitochondrion NA PE1 21 +NX_P18887 633 69477 6.02 0 Nucleoplasm;Nucleus Spinocerebellar ataxia, autosomal recessive, 26 PE1 19 +NX_P19012 456 49212 4.71 0 Nucleoplasm;Cytoskeleton NA PE1 17 +NX_P19013 534 57285 6.25 0 Cytoskeleton White sponge nevus 1 PE1 12 +NX_P19021 973 108332 5.98 1 Cytosol;Golgi apparatus;Secreted;Membrane NA PE1 5 +NX_P19022 906 99809 4.64 1 Cell junction;Cell surface;Cell junction;Cell membrane;Cell membrane;Sarcolemma NA PE1 18 +NX_P19075 237 26044 5.48 4 Nucleoplasm;Membrane NA PE1 12 +NX_P19086 355 40924 7.53 0 Cytoplasmic vesicle;Membrane NA PE1 22 +NX_P19087 354 40176 5.1 0 NA Achromatopsia 4 PE1 1 +NX_P19099 503 57560 9.47 0 Mitochondrion membrane Corticosterone methyloxidase 1 deficiency;Corticosterone methyloxidase 2 deficiency;Hyperaldosteronism, familial, 1 PE1 8 +NX_P19105 171 19794 4.67 0 NA NA PE1 18 +NX_P19113 662 74141 8.3 0 NA NA PE1 15 +NX_P19174 1290 148532 5.73 0 Cytosol;Ruffle;Lamellipodium NA PE1 20 +NX_P19224 532 60751 8.66 1 Microsome;Endoplasmic reticulum membrane NA PE1 2 +NX_P19235 508 55065 4.64 1 Cell membrane;Secreted;Cytoplasmic vesicle Erythrocytosis, familial, 1 PE1 19 +NX_P19237 187 21692 9.61 0 Nucleus;Nucleolus;Nucleus NA PE1 1 +NX_P19256 250 28147 6.3 1 Cell membrane;Cell membrane NA PE1 1 +NX_P19320 739 81276 5.14 1 Membrane;Cell junction NA PE1 1 +NX_P19338 710 76614 4.6 0 Nucleus;Nucleolus;Nucleolus;Cytoplasm;Nucleus;Nucleolus NA PE1 2 +NX_P19367 917 102486 6.36 0 Mitochondrion;Mitochondrion outer membrane Hexokinase deficiency;Neuropathy, hereditary motor and sensory, Russe type;Retinitis pigmentosa 79 PE1 10 +NX_P19387 275 31441 4.79 0 Cytosol;Nucleus;Nucleoplasm;Cytoskeleton NA PE1 16 +NX_P19388 210 24551 5.69 0 Nucleus;Nucleoplasm NA PE1 19 +NX_P19397 219 24341 7.48 4 Cell membrane;Cell junction;Membrane NA PE1 1 +NX_P19404 249 27392 8.22 0 Mitochondrion;Mitochondrion inner membrane NA PE1 18 +NX_P19419 428 44888 6.42 0 Nucleoplasm;Nucleus NA PE1 X +NX_P19429 210 24008 9.87 0 Cytosol;Cytoplasmic vesicle Cardiomyopathy, familial restrictive 1;Cardiomyopathy, dilated 1FF;Cardiomyopathy, dilated 2A;Cardiomyopathy, familial hypertrophic 7 PE1 19 +NX_P19438 455 50495 6.23 1 Cell membrane;Golgi apparatus membrane;Secreted Multiple sclerosis 5;Familial hibernian fever PE1 12 +NX_P19440 569 61410 6.65 1 Cell membrane Glutathionuria PE1 22 +NX_P19447 782 89278 6.83 0 Nucleus;Nucleoplasm Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum complementation group B PE1 2 +NX_P19474 475 54170 5.98 0 Cytoplasm;Autophagosome;Nucleus;P-body;Nucleoplasm NA PE1 11 +NX_P19484 476 52865 5.87 0 Cytoplasm;Nucleus NA PE1 6 +NX_P19525 551 62094 8.58 0 Nucleus;Cytosol;Cytoplasm;Perinuclear region NA PE1 2 +NX_P19526 365 41251 6.92 1 Golgi stack membrane NA PE1 19 +NX_P19532 575 61521 5.41 0 Cytosol;Nucleoplasm;Nucleus NA PE1 X +NX_P19544 449 49188 9.23 0 Nucleus;Nucleolus;Cytoplasm;Nucleus speckle;Nucleoplasm;Nucleoplasm Meacham syndrome;Mesothelioma, malignant;Wilms tumor 1;Denys-Drash syndrome;Nephrotic syndrome 4;Frasier syndrome PE1 11 +NX_P19622 333 34211 9.49 0 Nucleus;Nucleolus;Nucleus NA PE1 7 +NX_P19623 302 33825 5.3 0 Cytosol;Nucleoplasm NA PE1 1 +NX_P19634 815 90763 6.74 12 Cell membrane;Membrane;Endoplasmic reticulum membrane;Cell membrane Lichtenstein-Knorr syndrome PE1 1 +NX_P19652 201 23603 5.03 0 Secreted NA PE1 9 +NX_P19784 350 41213 8.65 0 Nucleoplasm;Cytosol;Cytoplasmic vesicle NA PE1 16 +NX_P19793 462 50811 7.92 0 Nucleus;Nucleus;Golgi apparatus NA PE1 9 +NX_P19801 751 85378 6.6 0 Extracellular space NA PE1 7 +NX_P19823 946 106463 6.4 0 Golgi apparatus;Secreted NA PE1 10 +NX_P19827 911 101389 6.31 0 Cytoplasmic vesicle;Secreted NA PE1 3 +NX_P19835 753 79322 5.13 0 Secreted Maturity-onset diabetes of the young 8 with exocrine dysfunction PE1 9 +NX_P19838 968 105356 5.2 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Immunodeficiency, common variable, 12 PE1 4 +NX_P19875 107 11389 10.57 0 Secreted NA PE1 4 +NX_P19876 107 11342 10.4 0 Secreted NA PE1 4 +NX_P19878 526 59762 5.88 0 Cytosol;Nucleolus;Cytoplasm Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive PE1 1 +NX_P19883 344 38007 5.53 0 Secreted NA PE1 5 +NX_P19957 117 12270 9.14 0 Cell membrane;Secreted NA PE1 20 +NX_P19961 511 57710 6.64 0 Secreted NA PE1 1 +NX_P19971 482 49955 5.36 0 Golgi apparatus;Nucleus Mitochondrial DNA depletion syndrome 1, MNGIE type PE1 22 +NX_P20020 1258 138755 5.73 10 Cell membrane;Cell membrane NA PE1 12 +NX_P20023 1033 112916 7.74 1 Membrane Systemic lupus erythematosus 9;Immunodeficiency, common variable, 7 PE1 1 +NX_P20036 260 29381 5.07 1 trans-Golgi network membrane;Endoplasmic reticulum membrane;Cell membrane;Cytoplasmic vesicle;Lysosome membrane;Endosome membrane NA PE1 6 +NX_P20039 266 30160 6.71 1 Cell membrane;Endoplasmic reticulum membrane;Late endosome membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane NA PE1 6 +NX_P20042 333 38388 5.6 0 Cytoplasm;Nucleolus;Nucleolus;Endoplasmic reticulum NA PE1 20 +NX_P20061 433 48207 4.96 0 Secreted NA PE1 11 +NX_P20062 427 47535 6.52 0 Secreted;Cytosol Transcobalamin II deficiency PE1 22 +NX_P20073 488 52739 5.52 0 Nucleoplasm;Cytosol NA PE1 10 +NX_P20132 328 34625 8.15 0 Mitochondrion;Cytosol;Cytoplasm NA PE1 12 +NX_P20138 364 39825 8.68 1 Cell membrane;Nucleus;Cell membrane NA PE1 19 +NX_P20142 388 42426 4.36 0 Secreted;Nucleus NA PE1 6 +NX_P20151 261 28671 6.44 0 NA NA PE1 19 +NX_P20155 84 9291 9.3 0 Secreted NA PE1 4 +NX_P20160 251 26886 9.75 0 Cytoplasmic granule membrane NA PE1 19 +NX_P20226 339 37698 9.8 0 Nucleoplasm;Nucleus Spinocerebellar ataxia 17 PE1 6 +NX_P20231 275 30515 6.62 0 Secreted NA PE1 16 +NX_P20248 432 48551 6.1 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 4 +NX_P20264 500 50327 7.51 0 Nucleus;Nucleus NA PE1 2 +NX_P20265 443 46893 7.51 0 Nucleus;Nucleus NA PE1 6 +NX_P20273 847 95348 6.21 1 Cell membrane NA PE1 19 +NX_P20290 206 22168 9.41 0 Nucleus;Cytosol;Cytoplasm;Nucleus NA PE1 5 +NX_P20292 161 18157 8.58 4 Nucleus membrane;Endoplasmic reticulum membrane Ischemic stroke PE1 13 +NX_P20309 590 66128 9.33 7 Cell membrane;Cell membrane;Postsynaptic cell membrane;Basolateral cell membrane Prune belly syndrome PE1 1 +NX_P20333 461 48291 5.88 1 Secreted;Cell membrane;Secreted NA PE1 1 +NX_P20336 220 24984 4.85 0 Nucleoplasm;Cytosol;Centrosome;Cell membrane NA PE1 19 +NX_P20337 219 24758 4.85 0 Cell membrane NA PE1 1 +NX_P20338 218 24390 5.82 0 Cytoplasm;Early endosome membrane;Recycling endosome membrane;Membrane;Cytoplasm NA PE1 1 +NX_P20339 215 23659 8.32 0 Cell membrane;Early endosome membrane;Melanosome;Cytoplasmic vesicle;Ruffle;Membrane;Cytosol;Phagosome membrane;Endosome membrane NA PE1 3 +NX_P20340 208 23593 5.42 0 Golgi apparatus membrane NA PE1 11 +NX_P20366 129 15003 8.89 0 Secreted NA PE1 7 +NX_P20382 165 18679 6.74 0 Secreted NA PE1 12 +NX_P20393 614 66805 8.83 0 Nucleus;Nucleus;Cytoplasm;Dendrite;Dendritic spine NA PE1 17 +NX_P20396 242 27404 5.34 0 Secreted NA PE1 3 +NX_P20472 110 12059 4.98 0 Nucleoplasm;Cell junction;Nucleolus NA PE1 22 +NX_P20585 1137 127412 8.2 0 Nucleus Endometrial cancer;Familial adenomatous polyposis 4 PE1 5 +NX_P20591 662 75520 5.6 0 Cytosol;Cytoplasm;Endoplasmic reticulum membrane;Perinuclear region;Nucleus membrane;Nucleus NA PE1 21 +NX_P20592 715 82089 8.91 0 Cytoplasm;Nucleus;Nuclear pore complex NA PE1 21 +NX_P20594 1047 117022 6.41 1 Cell membrane Short stature with non-specific skeletal abnormalities;Acromesomelic dysplasia, Maroteaux type;Epiphyseal chondrodysplasia, Miura type PE1 9 +NX_P20618 241 26489 8.27 0 Nucleus;Cytoplasm;Cytoplasm;Nucleus;Nucleus NA PE1 6 +NX_P20645 277 30993 5.57 1 Lysosome membrane NA PE1 12 +NX_P20648 1035 114119 5.58 10 Cell membrane NA PE1 19 +NX_P20671 130 14107 10.9 0 Nucleus;Chromosome NA PE1 6 +NX_P20674 150 16762 6.3 0 Mitochondrion inner membrane NA PE1 15 +NX_P20700 586 66408 5.11 0 Nucleus;Nucleus membrane;Nucleus inner membrane Leukodystrophy, demyelinating, autosomal dominant, adult-onset PE1 5 +NX_P20701 1170 128770 5.4 1 Cell membrane NA PE1 16 +NX_P20702 1163 127829 6.19 1 Membrane NA PE1 16 +NX_P20711 480 53926 6.77 0 Cytoskeleton Aromatic L-amino-acid decarboxylase deficiency PE1 7 +NX_P20718 246 27315 9.83 0 Cytoplasmic granule NA PE1 14 +NX_P20719 270 29345 9.32 0 Nucleus NA PE1 7 +NX_P20742 1482 163863 5.97 0 Secreted NA PE1 12 +NX_P20749 454 47584 8.72 0 Cytoplasmic vesicle;Nucleoplasm;Perinuclear region;Cytoplasm;Midbody;Nucleus NA PE1 19 +NX_P20774 298 33922 5.46 0 Endoplasmic reticulum;Endoplasmic reticulum;Extracellular matrix NA PE1 9 +NX_P20783 257 29355 9.46 0 Secreted NA PE1 12 +NX_P20794 623 70581 9.67 0 Centrosome;Nucleus;Photoreceptor outer segment;Midbody;Spindle;Photoreceptor inner segment Retinitis pigmentosa 62 PE1 6 +NX_P20800 178 19960 10.3 0 Cytosol;Secreted NA PE1 1 +NX_P20807 821 94254 5.81 0 Cytoplasm Limb-girdle muscular dystrophy 2A PE1 15 +NX_P20809 199 21429 10.64 0 Mitochondrion;Secreted NA PE1 19 +NX_P20810 708 76573 4.98 0 Cytoplasm;Cytosol;Endoplasmic reticulum Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads PE1 5 +NX_P20813 491 56278 8.43 0 Cytosol;Nucleus membrane;Endoplasmic reticulum membrane;Microsome membrane;Nucleoplasm NA PE1 19 +NX_P20815 502 57109 8.86 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 7 +NX_P20823 631 67356 5.82 0 Nucleus Maturity-onset diabetes of the young 3;Diabetes mellitus, insulin-dependent, 20;Hepatic adenomas familial PE1 12 +NX_P20827 205 23787 6.34 0 Cell membrane;Secreted NA PE1 1 +NX_P20839 514 55406 6.43 0 Cytoplasm;Nucleus Leber congenital amaurosis 11;Retinitis pigmentosa 10 PE1 7 +NX_P20848 420 47891 7.73 0 Endoplasmic reticulum NA PE1 14 +NX_P20849 921 91869 8.94 0 Extracellular matrix Stickler syndrome 4;Multiple epiphyseal dysplasia 6 PE1 6 +NX_P20851 252 28357 5.05 0 Secreted NA PE1 1 +NX_P20853 494 56425 7.69 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 19 +NX_P20908 1838 183560 4.94 0 Cytoplasmic vesicle;Extracellular matrix Ehlers-Danlos syndrome, classic type PE1 9 +NX_P20916 626 69069 4.97 1 Cell membrane;Membrane raft Spastic paraplegia 75, autosomal recessive PE1 19 +NX_P20929 6669 772914 9.11 0 Cytoskeleton;Sarcomere Nemaline myopathy 2 PE1 2 +NX_P20930 4061 435170 9.24 0 Cytoplasmic vesicle;Cytoplasmic granule Dermatitis atopic 2;Ichthyosis vulgaris PE1 1 +NX_P20933 346 37208 5.86 0 Lysosome Aspartylglucosaminuria PE1 4 +NX_P20936 1047 116403 6.11 0 Cytoplasm Capillary malformation-arteriovenous malformation;Parkes Weber syndrome PE1 5 +NX_P20941 246 28246 5.08 0 Cytosol;Nucleus;Photoreceptor outer segment;Photoreceptor inner segment NA PE1 1 +NX_P20962 102 11530 4.14 0 Nucleus;Nucleus;Nucleolus NA PE1 12 +NX_P20963 164 18696 9.28 1 Membrane Immunodeficiency 25 PE1 1 +NX_P21108 318 34839 5.92 0 NA NA PE1 7 +NX_P21127 795 92707 5.45 0 Nucleus;Cytoplasm NA PE1 1 +NX_P21128 410 46872 5.26 0 Secreted NA PE1 12 +NX_P21145 153 16714 5.55 4 Centrosome;Membrane NA PE1 2 +NX_P21217 361 42117 9.16 1 Golgi stack membrane NA PE1 19 +NX_P21246 168 18942 9.66 0 Golgi apparatus;Secreted NA PE1 7 +NX_P21266 225 26560 5.37 0 Nucleolus;Cytosol;Cytoplasm NA PE1 1 +NX_P21281 511 56501 5.57 0 Endomembrane system;Melanosome;Cytoplasmic vesicle Zimmermann-Laband syndrome 2;Deafness, congenital, with onychodystrophy, autosomal dominant PE1 8 +NX_P21283 382 43942 7.02 0 Cytosol;Nucleoplasm NA PE1 8 +NX_P21291 193 20567 8.9 0 Nucleus NA PE1 1 +NX_P21333 2647 280739 5.7 0 Cell cortex;Cytosol;Cytoskeleton;Cell membrane;Cytoskeleton Congenital short bowel syndrome, X-linked;FG syndrome 2;Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked;Terminal osseous dysplasia;Frontometaphyseal dysplasia 1;Otopalatodigital syndrome 2;Otopalatodigital syndrome 1;Cardiac valvular dysplasia X-linked PE1 X +NX_P21359 2839 319372 7.1 0 Mitochondrion;Nucleus;Nucleolus Neurofibromatosis 1;Neurofibromatosis-Noonan syndrome;Familial spinal neurofibromatosis;Watson syndrome;Colorectal cancer;Leukemia, juvenile myelomonocytic PE1 17 +NX_P21397 527 59682 7.94 1 Mitochondrion outer membrane;Mitochondrion Brunner syndrome PE1 X +NX_P21399 889 98399 6.23 0 Cytosol;Mitochondrion;Cytoplasm NA PE1 9 +NX_P21439 1286 141523 8.65 12 Membrane raft;Cell membrane;Apical cell membrane;Cytoskeleton;Cell membrane;Focal adhesion;Cytoplasm;Clathrin-coated vesicle;Nucleoplasm Cholestasis, progressive familial intrahepatic, 3;Cholestasis of pregnancy, intrahepatic 3;Gallbladder disease 1 PE1 7 +NX_P21452 398 44442 8.86 7 Cell membrane NA PE1 10 +NX_P21453 382 42811 9.59 7 Cell membrane;Endosome;Cytoplasmic vesicle;Membrane raft NA PE1 1 +NX_P21462 350 38446 9.23 7 Golgi apparatus;Cell membrane;Nucleus;Nucleolus NA PE1 19 +NX_P21506 573 66455 8.68 0 Nucleus;Cell membrane;Nucleus;Cytoplasmic vesicle NA PE1 12 +NX_P21549 392 43010 8.61 0 Mitochondrion;Peroxisome;Cytoplasmic vesicle Hyperoxaluria primary 1 PE1 2 +NX_P21554 472 52858 8.47 7 Mitochondrion outer membrane;Cell membrane;Cell membrane;Axon;Cytoskeleton;Membrane raft Obesity PE1 6 +NX_P21579 422 47573 8.26 1 Cytoplasm;Secretory vesicle membrane;Synaptic vesicle membrane;Chromaffin granule membrane NA PE1 12 +NX_P21580 790 89614 8.61 0 Cytosol;Centrosome;Lysosome;Nucleus;Cytoplasm;Cytoplasm Autoinflammatory syndrome, familial, Behcet-like PE1 6 +NX_P21583 273 30899 5.86 1 Cytoplasmic vesicle;Cell membrane;Cytoskeleton;Lamellipodium;Secreted;Filopodium;Cytoplasm Deafness, congenital, unilateral or asymmetric;Hyperpigmentation with or without hypopigmentation, familial progressive PE1 12 +NX_P21589 574 63368 6.58 0 Cell membrane;Cell membrane;Cytosol Calcification of joints and arteries PE1 6 +NX_P21673 171 20024 5.09 0 Nucleus;Cytoplasm;Cytoplasm Keratosis follicularis spinulosa decalvans X-linked PE1 X +NX_P21675 1872 212677 4.97 0 Nucleus;Nucleoplasm Mental retardation, X-linked, syndromic, 33;Dystonia 3, torsion, X-linked PE1 X +NX_P21695 349 37568 5.81 0 Cytoplasm Hypertriglyceridemia, transient infantile PE1 12 +NX_P21709 976 108127 6.2 1 Cell membrane NA PE1 7 +NX_P21728 446 49293 8.64 7 Endoplasmic reticulum membrane;Cell membrane NA PE1 5 +NX_P21730 350 39336 9.22 7 Cell membrane;Cytoplasmic vesicle NA PE1 19 +NX_P21731 343 37431 10 7 Cell membrane;Nucleus speckle;Cell membrane Bleeding disorder, platelet-type 13 PE1 19 +NX_P21741 143 15585 9.84 0 Cytoplasmic vesicle;Secreted NA PE1 11 +NX_P21754 424 47018 5.49 1 Cytoplasm;Extracellular matrix;Cell membrane NA PE1 7 +NX_P21757 451 49762 5.61 1 Membrane Barrett esophagus;Prostate cancer PE1 8 +NX_P21781 194 22509 9.29 0 Nucleolus;Nucleus;Secreted NA PE1 15 +NX_P21796 283 30773 8.62 0 Cytosol;Membrane raft;Cell membrane;Mitochondrion outer membrane NA PE1 5 +NX_P21802 821 92025 5.61 1 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Cytoplasmic vesicle;Secreted Jackson-Weiss syndrome;Crouzon syndrome;Familial scaphocephaly syndrome;Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis;Lacrimo-auriculo-dento-digital syndrome;Bent bone dysplasia syndrome;Pfeiffer syndrome;Beare-Stevenson cutis gyrata syndrome;Saethre-Chotzen syndrome;Apert syndrome PE1 10 +NX_P21810 368 41654 7.16 0 Golgi apparatus;Golgi apparatus;Endoplasmic reticulum;Extracellular matrix Meester-Loeys syndrome;Spondyloepimetaphyseal dysplasia, X-linked PE1 X +NX_P21815 317 35148 4.14 0 Secreted NA PE1 4 +NX_P21817 5038 565176 5.18 6 Sarcoplasmic reticulum;Cytoplasmic vesicle;Golgi apparatus;Sarcoplasmic reticulum membrane;Cytosol Multiminicore disease with external ophthalmoplegia;Malignant hyperthermia 1;Central core disease of muscle PE1 19 +NX_P21854 359 40220 8.62 1 Membrane;Nucleus;Mitochondrion NA PE1 9 +NX_P21860 1342 148098 6.11 1 Cell membrane;Cell membrane;Cytoskeleton;Secreted Lethal congenital contracture syndrome 2 PE1 12 +NX_P21912 280 31630 9.03 0 Cell membrane;Mitochondrion;Nucleoplasm;Mitochondrion inner membrane Pheochromocytoma;Paragangliomas 4;Cowden syndrome 2;Paraganglioma and gastric stromal sarcoma PE1 1 +NX_P21917 467 48361 8.79 7 Cell membrane NA PE1 11 +NX_P21918 477 52951 5.23 7 Cell membrane Benign essential blepharospasm PE1 4 +NX_P21926 228 25416 6.8 4 Cytoplasm;Cell membrane;Membrane;Cell membrane NA PE1 12 +NX_P21941 496 53701 7.85 0 Extracellular matrix NA PE1 1 +NX_P21953 392 43122 5.89 0 Mitochondrion matrix Maple syrup urine disease 1B PE1 6 +NX_P21964 271 30037 5.26 1 Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane;Cytoplasm Schizophrenia PE1 22 +NX_P21980 687 77329 5.11 0 Cytosol;Cell membrane NA PE1 20 +NX_P22001 575 63842 5.61 6 Cell membrane NA PE1 1 +NX_P22003 454 51737 9.07 0 Secreted NA PE2 6 +NX_P22004 513 57226 8.39 0 Mitochondrion;Secreted NA PE1 6 +NX_P22033 750 83134 6.48 0 Mitochondrion;Mitochondrion matrix;Cytosol Methylmalonic aciduria type mut PE1 6 +NX_P22059 807 89421 6.91 0 Cytosol;Golgi apparatus;Cytosol;Nucleus;Perinuclear region;Golgi apparatus membrane;Endoplasmic reticulum membrane NA PE1 11 +NX_P22061 227 24636 6.7 0 Cytoplasm;Cytosol NA PE1 6 +NX_P22079 712 80288 8.89 0 Secreted NA PE1 17 +NX_P22083 530 59084 10.04 1 Cytoplasmic vesicle;Golgi stack membrane NA PE1 11 +NX_P22087 321 33784 10.18 0 Nucleolus;Nucleolus;Nucleus NA PE1 19 +NX_P22090 263 29456 10.25 0 NA NA PE1 Y +NX_P22102 1010 107767 6.26 0 Nucleoplasm;Mitochondrion;Cytosol NA PE1 21 +NX_P22105 4242 458220 5.05 0 Extracellular matrix Ehlers-Danlos syndrome due to tenascin X deficiency;Vesicoureteral reflux 8 PE1 6 +NX_P22223 829 91418 4.61 1 Cell membrane;Cytosol;Cell junction Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome;Hypotrichosis congenital with juvenile macular dystrophy PE1 16 +NX_P22234 425 47079 6.94 0 Cytosol NA PE1 4 +NX_P22301 178 20517 8.19 0 Secreted NA PE1 1 +NX_P22303 614 67796 5.87 0 Nucleus;Cell membrane;Cell membrane;Synapse;Cytoplasmic vesicle;Golgi apparatus;Secreted NA PE1 7 +NX_P22304 550 61873 5.21 0 Endoplasmic reticulum;Lysosome Mucopolysaccharidosis 2 PE1 X +NX_P22307 547 58994 6.44 0 Peroxisome;Peroxisome;Mitochondrion;Cytoplasm Leukoencephalopathy with dystonia and motor neuropathy PE1 1 +NX_P22309 533 59591 8.19 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Microsome Crigler-Najjar syndrome 1;Gilbert syndrome;Crigler-Najjar syndrome 2;Transient familial neonatal hyperbilirubinemia PE1 2 +NX_P22310 534 60025 8.79 1 Microsome;Endoplasmic reticulum membrane Gilbert syndrome;Crigler-Najjar syndrome 2;Crigler-Najjar syndrome 1 PE1 2 +NX_P22314 1058 117849 5.49 0 Nucleoplasm;Nucleus;Mitochondrion;Cytoplasm Spinal muscular atrophy X-linked 2 PE1 X +NX_P22352 226 25552 8.26 0 Secreted NA PE1 5 +NX_P22362 96 10992 9.3 0 Secreted NA PE1 17 +NX_P22392 152 17298 8.52 0 Lamellipodium;Ruffle;Cytoplasm;Nucleus NA PE1 17 +NX_P22413 925 104924 6.76 1 Cell membrane;Basolateral cell membrane;Secreted Cole disease;Hypophosphatemic rickets, autosomal recessive, 2;Ossification of the posterior longitudinal ligament of the spine;Diabetes mellitus, non-insulin-dependent;Arterial calcification of infancy, generalized, 1 PE1 6 +NX_P22415 310 33538 5.36 0 Nucleoplasm;Nucleus Hyperlipidemia combined 1 PE1 1 +NX_P22455 802 87954 6.36 1 Cell membrane;Endosome;Cytoplasm;Endoplasmic reticulum;Secreted Prostate cancer PE1 5 +NX_P22459 653 73257 5.08 6 Cell membrane;Axon NA PE1 11 +NX_P22460 613 67228 5.68 6 Cell membrane Atrial fibrillation, familial, 7 PE1 12 +NX_P22466 123 13302 6.84 0 Secreted;Cytoplasmic vesicle;Golgi apparatus Epilepsy, familial temporal lobe, 8 PE1 11 +NX_P22492 207 22019 11.71 0 Chromosome;Nucleus NA PE1 6 +NX_P22528 89 9888 8.85 0 Cytoplasm NA PE1 1 +NX_P22531 72 7855 8.73 0 Cytoplasm NA PE2 1 +NX_P22532 72 7905 8.77 0 Cytoplasm NA PE2 1 +NX_P22557 587 64633 8.39 0 Mitochondrion matrix Anemia, sideroblastic, 1;Erythropoietic protoporphyria, X-linked dominant PE1 X +NX_P22570 491 53837 8.72 0 Mitochondrion;Mitochondrion matrix NA PE1 17 +NX_P22607 806 87710 5.59 1 Secreted;Cell membrane;Cytoplasmic vesicle;Endoplasmic reticulum;Endoplasmic reticulum Achondroplasia, severe, with developmental delay and acanthosis nigricans;Keratinocytic non-epidermolytic nevus;Muenke syndrome;Lacrimo-auriculo-dento-digital syndrome;Cervical cancer;Bladder cancer;Crouzon syndrome with acanthosis nigricans;Camptodactyly, tall stature, and hearing loss syndrome;Thanatophoric dysplasia 1;Thanatophoric dysplasia 2;Achondroplasia;Testicular germ cell tumor;Hypochondroplasia;Keratosis, seborrheic;Multiple myeloma PE1 4 +NX_P22612 351 40434 8.7 0 NA Bleeding disorder, platelet-type 19 PE1 9 +NX_P22626 353 37430 8.97 0 Nucleus;Cytoplasm;Nucleoplasm;Cytoplasmic granule;Exosome;Nucleus Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 PE1 7 +NX_P22670 979 104758 5.89 0 Nucleus;Nucleoplasm NA PE1 19 +NX_P22674 350 38096 8.44 0 Cytoplasm Ciliary dyskinesia, primary, 29 PE1 5 +NX_P22676 271 31540 5.06 0 Cytosol NA PE1 16 +NX_P22680 504 57661 8.48 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 8 +NX_P22681 906 99633 6.1 0 Cytoplasm;Cytosol;Cell membrane Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia PE1 11 +NX_P22692 258 27934 6.81 0 Secreted NA PE1 17 +NX_P22694 351 40623 8.84 0 Cytoplasm;Cell membrane;Membrane;Nucleus NA PE1 1 +NX_P22695 453 48443 8.74 0 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex III deficiency, nuclear 5 PE1 16 +NX_P22732 501 54974 5.81 12 Apical cell membrane;Cell membrane;Sarcolemma NA PE1 1 +NX_P22735 817 89787 5.68 0 Membrane Ichthyosis, congenital, autosomal recessive 1 PE1 14 +NX_P22736 598 64463 6.82 0 Cytosol;Cytoplasm;Nucleus;Nucleus NA PE1 12 +NX_P22748 312 35032 7.68 0 Cell membrane;Cytoplasmic vesicle Retinitis pigmentosa 17 PE1 17 +NX_P22749 145 16374 9.39 0 Secreted NA PE1 2 +NX_P22760 399 45734 8.75 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 3 +NX_P22792 545 60557 5.63 0 Secreted NA PE1 3 +NX_P22794 236 26213 8.73 1 Nucleoplasm;Nucleus;Membrane NA PE1 17 +NX_P22830 423 47862 8.96 0 Mitochondrion inner membrane Erythropoietic protoporphyria PE1 18 +NX_P22888 699 78643 8.82 7 Cell membrane Familial male precocious puberty;Luteinizing hormone resistance PE1 2 +NX_P22891 400 44744 5.64 0 Secreted NA PE1 13 +NX_P22894 467 53412 6.38 0 Extracellular matrix;Cytoplasmic granule NA PE1 11 +NX_P22897 1456 166012 6.11 1 Endosome membrane;Cell membrane NA PE1 10 +NX_P22914 178 21007 6.44 0 Cytosol Cataract 20, multiple types PE1 3 +NX_P23025 273 31368 6.29 0 Nucleus;Cytoskeleton;Nucleus Xeroderma pigmentosum complementation group A PE1 9 +NX_P23083 117 13085 9.23 0 Secreted;Cell membrane NA PE1 14 +NX_P23109 780 90219 6.53 0 NA Myopathy due to myoadenylate deaminase deficiency PE1 1 +NX_P23141 567 62521 6.15 0 Endoplasmic reticulum lumen;Endoplasmic reticulum NA PE1 16 +NX_P23142 703 77214 5.07 0 Extracellular matrix;Endoplasmic reticulum NA PE1 22 +NX_P23193 301 33970 8.65 0 Nucleolus;Nucleus;Nucleus NA PE1 8 +NX_P23219 599 68686 6.81 0 Cytoplasmic vesicle;Golgi apparatus;Endoplasmic reticulum membrane;Microsome membrane NA PE1 9 +NX_P23229 1130 126606 6.21 1 Cell membrane;Cell membrane Epidermolysis bullosa letalis, with pyloric atresia PE1 2 +NX_P23246 707 76149 9.45 0 Nucleoplasm;Nucleus speckle;Nucleus matrix;Cytoplasm NA PE1 1 +NX_P23258 451 51170 5.75 0 Centrosome Cortical dysplasia, complex, with other brain malformations 4 PE1 17 +NX_P23276 732 82824 8.09 1 Cell membrane NA PE1 7 +NX_P23280 308 35367 6.51 0 Secreted NA PE1 1 +NX_P23284 216 23743 9.42 0 Nucleus;Endoplasmic reticulum;Melanosome;Endoplasmic reticulum lumen Osteogenesis imperfecta 9 PE1 15 +NX_P23297 94 10546 4.39 0 Cytoplasm NA PE1 1 +NX_P23327 699 80244 4.62 0 Sarcoplasmic reticulum lumen NA PE1 19 +NX_P23352 680 76112 9.33 0 Secreted;Cell membrane Hypogonadotropic hypogonadism 1 with or without anosmia PE1 X +NX_P23368 584 65444 7.52 0 Mitochondrion;Mitochondrion matrix NA PE1 18 +NX_P23378 1020 112730 6.68 0 Mitochondrion;Nucleus;Mitochondrion Non-ketotic hyperglycinemia PE1 9 +NX_P23381 471 53165 5.83 0 Cytoplasm;Cytosol;Cytoplasm NA PE1 14 +NX_P23396 243 26688 9.68 0 Cytoplasm;Nucleus;Endoplasmic reticulum;Cytosol;Nucleolus;Mitochondrion inner membrane;Spindle;Cytoplasm;Nucleus NA PE1 11 +NX_P23409 242 26953 5.71 0 Nucleus Myopathy, centronuclear, 3 PE1 12 +NX_P23415 457 52624 8.97 4 Synapse;Postsynaptic cell membrane;Cell membrane;Perikaryon;Dendrite Hyperekplexia 1 PE1 5 +NX_P23416 452 52002 9.06 4 Postsynaptic cell membrane;Synapse;Cell membrane;Cell projection NA PE1 X +NX_P23434 173 18885 4.91 0 Mitochondrion Non-ketotic hyperglycinemia PE1 16 +NX_P23435 193 21097 6.73 0 Postsynaptic cell membrane;Secreted NA PE1 16 +NX_P23443 525 59140 6.21 0 Mitochondrion;Nucleus;Nucleoplasm;Synaptosome;Mitochondrion outer membrane;Cytoplasm NA PE1 17 +NX_P23458 1154 133277 7.48 0 Endomembrane system NA PE1 1 +NX_P23467 1997 224301 7.44 1 Membrane;Cell membrane;Cell junction;Cytoplasmic vesicle NA PE1 12 +NX_P23468 1912 214760 6.14 1 Cytoplasmic vesicle;Membrane NA PE1 9 +NX_P23469 700 80642 6.57 1 Cytoplasm;Cytoskeleton;Cell membrane NA PE1 10 +NX_P23470 1445 162003 5.99 1 Membrane NA PE1 3 +NX_P23471 2315 254587 4.76 1 Cytoplasmic vesicle;Cell membrane;Secreted NA PE1 7 +NX_P23490 312 25761 8.5 0 Cytoplasm;Nucleoplasm Vohwinkel syndrome with ichthyosis PE1 1 +NX_P23497 879 100417 8.49 0 Nucleus;Nucleus;PML body;Cytoplasm;Nucleus NA PE1 2 +NX_P23508 829 93027 5.4 0 Cell membrane;Lamellipodium;Nucleus;Nucleoplasm;Cytoplasm NA PE1 5 +NX_P23510 183 21050 6.95 1 Membrane;Cytoplasmic vesicle;Nucleus Systemic lupus erythematosus PE1 1 +NX_P23511 347 36877 8.89 0 Nucleoplasm;Nucleus NA PE1 6 +NX_P23515 440 49608 8.06 0 Cell membrane NA PE1 17 +NX_P23526 432 47716 5.92 0 Cytoplasm;Cytosol;Melanosome Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency PE1 20 +NX_P23527 126 13906 10.31 0 Chromosome;Nucleus NA PE1 6 +NX_P23528 166 18502 8.22 0 Lamellipodium;Nucleus matrix;Cytoskeleton;Ruffle membrane;Lamellipodium membrane NA PE1 11 +NX_P23560 247 27818 9.01 0 Secreted;Mitochondrion;Nucleus speckle Congenital central hypoventilation syndrome;Bulimia nervosa 2 PE1 11 +NX_P23582 126 13246 10.25 0 Secreted NA PE1 2 +NX_P23588 611 69151 5.55 0 Cytosol NA PE1 12 +NX_P23610 371 39103 6.37 0 Nucleus NA PE1 X +NX_P23634 1241 137920 6.19 10 Cell membrane;Cell membrane;Flagellum membrane;Cell membrane NA PE1 1 +NX_P23677 461 51009 7.59 0 Cytoplasmic vesicle NA PE1 15 +NX_P23743 735 82630 6.28 0 Nucleoplasm;Mitochondrion;Cytoplasmic vesicle NA PE1 12 +NX_P23759 505 55119 9.1 0 Nucleus Rhabdomyosarcoma 2 PE1 1 +NX_P23760 479 52968 8.92 0 Nucleoplasm;Nucleus Rhabdomyosarcoma 2;Waardenburg syndrome 1;Craniofacial-deafness-hand syndrome;Waardenburg syndrome 3 PE1 2 +NX_P23763 118 12902 6.24 1 Mitochondrion outer membrane;Synaptic vesicle membrane;Synaptosome;Cytoplasmic vesicle membrane Spastic ataxia 1, autosomal dominant PE1 12 +NX_P23769 480 50500 9.43 0 Nucleus;Nucleoplasm Lymphedema, primary, with myelodysplasia;Immunodeficiency 21;Myelodysplastic syndrome PE1 3 +NX_P23771 443 47916 9.52 0 Nucleus;Nucleus;Nucleoplasm Hypoparathyroidism, sensorineural deafness, and renal disease PE1 10 +NX_P23786 658 73777 8.38 0 Nucleolus;Nucleoplasm;Mitochondrion inner membrane;Mitochondrion Carnitine palmitoyltransferase 2 deficiency, infantile;Carnitine palmitoyltransferase 2 deficiency, lethal neonatal;Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced;Encephalopathy, acute, infection-induced, 4 PE1 1 +NX_P23919 212 23819 8.4 0 Mitochondrion NA PE1 2 +NX_P23921 792 90070 6.76 0 Cytoplasm;Cytosol;Cytoplasm NA PE1 11 +NX_P23942 346 39186 8.5 4 Membrane Retinitis pigmentosa 7;Choroidal dystrophy, central areolar 2;Macular dystrophy, vitelliform, 3;Macular dystrophy, patterned, 1;Retinitis punctata albescens PE1 6 +NX_P23945 695 78265 6.77 7 Cell membrane Ovarian hyperstimulation syndrome;Ovarian dysgenesis 1 PE1 2 +NX_P23946 247 27325 9.44 0 Secreted;Cytoplasmic granule NA PE1 14 +NX_P23975 617 69332 7.18 12 Cell membrane;Mitochondrion;Cytosol Orthostatic intolerance PE1 16 +NX_P24001 234 26676 5.14 0 Secreted NA PE1 16 +NX_P24043 3122 343905 6.01 0 Basement membrane Merosin-deficient congenital muscular dystrophy 1A PE1 6 +NX_P24046 479 55883 8.71 4 Postsynaptic cell membrane;Cell membrane NA PE2 6 +NX_P24071 287 32265 6.44 1 Cell membrane;Cell membrane;Secreted NA PE1 19 +NX_P24158 256 27807 8.72 0 NA NA PE1 19 +NX_P24278 435 48990 6.09 0 Nucleus;Nucleoplasm NA PE1 14 +NX_P24298 496 54637 6.77 0 Cytoplasm NA PE1 8 +NX_P24310 79 9118 10.12 1 Mitochondrion inner membrane NA PE1 19 +NX_P24311 80 9161 10.28 1 Mitochondrion inner membrane Linear skin defects with multiple congenital anomalies 2 PE1 X +NX_P24347 488 54590 6.38 0 Extracellular matrix NA PE1 22 +NX_P24385 295 33729 4.97 0 Nucleus;Cytoplasm;Nucleus;Cytoplasm;Membrane;Nucleoplasm Multiple myeloma PE1 11 +NX_P24386 653 73476 4.68 0 Cytosol;Cytosol;Nucleoplasm Choroideremia PE1 X +NX_P24387 322 36144 6.06 0 Secreted NA PE1 5 +NX_P24390 212 24542 8.8 7 Cytoplasmic vesicle;Golgi apparatus;COPI-coated vesicle membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 19 +NX_P24394 825 89658 4.99 1 Cytosol;Secreted;Cell membrane NA PE1 16 +NX_P24462 503 57526 9.21 0 Microsome membrane;Endoplasmic reticulum membrane NA PE1 7 +NX_P24468 414 45571 8.66 0 Nucleus Congenital heart defects, multiple types, 4 PE1 15 +NX_P24522 165 18336 4.36 0 Nucleus;Nucleus speckle;Nucleus NA PE1 1 +NX_P24530 442 49644 9.15 7 Cytosol;Cell membrane;Cell membrane Waardenburg syndrome 4A;ABCD syndrome;Hirschsprung disease 2 PE1 13 +NX_P24534 225 24764 4.5 0 Cytosol;Nucleolus NA PE1 2 +NX_P24539 256 28909 9.37 0 Nucleoplasm;Mitochondrion;Mitochondrion;Mitochondrion inner membrane NA PE1 1 +NX_P24557 533 60518 7.56 4 Endoplasmic reticulum membrane;Cytoplasmic vesicle Ghosal hematodiaphyseal dysplasia PE1 7 +NX_P24588 427 47088 4.87 0 Nucleoplasm;Membrane NA PE1 14 +NX_P24592 240 25322 8.15 0 Secreted NA PE1 12 +NX_P24593 272 30570 8.58 0 Cytoplasmic vesicle;Secreted NA PE1 2 +NX_P24666 158 18042 6.29 0 Cytosol;Cytoplasm;Nucleus NA PE1 2 +NX_P24723 683 77828 7.94 0 Cytosol;Cell membrane;Cytoplasm Ischemic stroke PE1 14 +NX_P24752 427 45200 8.98 0 Mitochondrion;Mitochondrion 3-ketothiolase deficiency PE1 11 +NX_P24821 2201 240853 4.79 0 Extracellular matrix Deafness, autosomal dominant, 56 PE1 9 +NX_P24844 172 19827 4.8 0 NA NA PE1 20 +NX_P24855 282 31434 4.71 0 Endoplasmic reticulum;Cytoplasmic vesicle;Secreted;Nucleus envelope Systemic lupus erythematosus PE1 16 +NX_P24863 283 33243 6.95 0 Nucleoplasm;Cytosol;Nucleus NA PE1 6 +NX_P24864 410 47077 5.7 0 Nucleoplasm;Nucleus NA PE1 19 +NX_P24903 491 55501 6.93 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 19 +NX_P24928 1970 217176 7.02 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 17 +NX_P24941 298 33930 8.8 0 Centrosome;Nucleoplasm;Centrosome;Cytosol;Cajal body;Cytoplasm;Endosome NA PE1 12 +NX_P25021 359 40098 9.36 7 Cell membrane NA PE2 5 +NX_P25024 350 39791 8.98 7 Cell membrane NA PE1 2 +NX_P25025 360 40759 8.66 7 Cell membrane NA PE1 2 +NX_P25054 2843 311646 7.92 0 Adherens junction;Cell membrane;Cytoplasm;Ruffle membrane;Lamellipodium;Cytoskeleton Familial adenomatous polyposis;Medulloblastoma;Hepatocellular carcinoma;Gastric cancer;Hereditary desmoid disease PE1 5 +NX_P25063 80 8097 9.69 0 Cell membrane Multiple sclerosis PE1 6 +NX_P25067 703 67244 9.05 0 Golgi apparatus;Basement membrane Corneal dystrophy, posterior polymorphous, 2;Corneal dystrophy, Fuchs endothelial, 1 PE1 1 +NX_P25089 353 39965 8.12 7 Cell membrane NA PE2 19 +NX_P25090 351 38964 8.09 7 Cell membrane NA PE1 19 +NX_P25092 1073 123403 6.77 1 Cytoplasmic vesicle;Cell membrane;Endoplasmic reticulum membrane Diarrhea 6;Meconium ileus PE1 12 +NX_P25098 689 79574 6.89 0 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA PE1 11 +NX_P25100 572 60463 9.41 7 Cell membrane NA PE1 20 +NX_P25101 427 48722 8.73 7 Cell membrane Mandibulofacial dysostosis with alopecia PE1 4 +NX_P25103 407 46251 6.78 7 Cell membrane NA PE1 2 +NX_P25105 342 39203 9.2 7 Cell membrane;Cytoplasmic vesicle;Cell membrane;Nucleoplasm NA PE1 1 +NX_P25106 362 41493 7.52 7 Cytoplasmic vesicle;Cell membrane;Cell membrane;Perinuclear region;Early endosome;Recycling endosome NA PE1 2 +NX_P25116 425 47441 8.62 7 Cell membrane NA PE1 5 +NX_P25189 248 27555 9.57 1 Cell membrane;Myelin membrane Adie pupil;Roussy-Levy syndrome;Charcot-Marie-Tooth disease 1B;Charcot-Marie-Tooth disease 2J;Charcot-Marie-Tooth disease 2I;Dejerine-Sottas syndrome;Charcot-Marie-Tooth disease, dominant, intermediate type, D;Neuropathy, congenital hypomyelinating or amyelinating PE1 1 +NX_P25205 808 90981 5.53 0 Nucleoplasm;Nucleus NA PE1 6 +NX_P25208 207 22831 4.46 0 Nucleus;Nucleoplasm NA PE1 12 +NX_P25311 298 34259 5.71 0 Secreted NA PE1 7 +NX_P25325 297 33178 6.13 0 Cytoplasm;Cytosol;Mitochondrion;Mitochondrion;Synaptosome NA PE1 22 +NX_P25391 3075 337084 5.93 0 Basement membrane Poretti-Boltshauser syndrome PE1 18 +NX_P25398 132 14515 6.81 0 Nucleolus;Cytoplasm;Cytoplasm;Cytosol NA PE1 6 +NX_P25440 801 88061 9.13 0 Nucleus;Nucleus speckle NA PE1 6 +NX_P25445 335 37732 8.29 1 Cytosol;Cell membrane;Cell membrane;Secreted Autoimmune lymphoproliferative syndrome 1A PE1 10 +NX_P25490 414 44713 5.8 0 Nucleus;Nucleoplasm;Nucleus matrix;Nucleolus;Cytoplasmic vesicle Gabriele-de Vries syndrome PE1 14 +NX_P25685 340 38044 8.74 0 Cytoplasm;Nucleus;Nucleus;Nucleolus;Cytosol NA PE1 19 +NX_P25686 324 35580 5.69 0 Endoplasmic reticulum membrane;Nucleus;Cytoplasm;Nucleus membrane Distal spinal muscular atrophy, autosomal recessive, 5 PE1 2 +NX_P25705 553 59751 9.16 0 Mitochondrion;Mitochondrion inner membrane;Cell membrane Combined oxidative phosphorylation deficiency 22;Mitochondrial complex V deficiency, nuclear 4 PE1 18 +NX_P25713 68 6927 4.79 0 NA NA PE1 16 +NX_P25774 331 37496 8.61 0 Lysosome;Cytoplasmic vesicle NA PE1 1 +NX_P25786 263 29556 6.15 0 Nucleus;Cytoplasm;Nucleus;Nucleoplasm;Cytoplasm NA PE1 11 +NX_P25787 234 25899 6.91 0 Cytoplasm;Cytoplasm;Nucleus NA PE1 7 +NX_P25788 255 28433 5.19 0 Nucleus;Cytoplasm;Nucleus;Cytoplasm NA PE1 14 +NX_P25789 261 29484 7.58 0 Nucleus;Cytosol;Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 15 +NX_P25791 158 18358 6.79 0 Cytosol;Nucleoplasm;Nucleus NA PE1 11 +NX_P25800 156 17828 8.33 0 Nucleus NA PE1 11 +NX_P25815 95 10400 4.75 0 Nucleus;Nucleus;Cytoplasm;Microvillus membrane NA PE1 4 +NX_P25874 307 33005 9.26 6 Mitochondrion inner membrane NA PE1 4 +NX_P25929 384 44392 7.94 7 Nucleus;Cell membrane;Mitochondrion;Cytosol NA PE1 4 +NX_P25940 1745 172121 6.44 0 Extracellular matrix NA PE1 19 +NX_P25942 277 30619 5.49 1 Cell membrane;Secreted Immunodeficiency with hyper-IgM 3 PE1 20 +NX_P25963 317 35609 4.57 0 Cytoplasm;Nucleus;Cytosol Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant PE1 14 +NX_P26006 1051 116612 6.32 1 Cell membrane;Invadopodium membrane;Filopodium membrane;Cell membrane;Cell membrane Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital PE1 17 +NX_P26010 798 86903 5.67 1 Membrane;Cell membrane;Cytosol NA PE1 12 +NX_P26012 769 85632 7.06 1 Cell membrane;Cytosol;Membrane NA PE1 7 +NX_P26022 381 41976 4.94 0 Secreted NA PE1 3 +NX_P26038 577 67820 6.08 0 Microvillus membrane;Cell membrane;Cell membrane;Cytoskeleton;Apical cell membrane Immunodeficiency 50 PE1 X +NX_P26045 913 103990 6.58 0 Cell membrane;Cytoskeleton NA PE1 9 +NX_P26196 483 54417 8.85 0 Cytosol;Cytosol;P-body;Cytoplasm;Nucleus NA PE1 11 +NX_P26232 953 105313 5.52 0 Cell membrane;Cytoplasm;Cytoskeleton;Axon;Nucleus;Adherens junction NA PE1 2 +NX_P26358 1616 183165 7.99 0 Nucleus;Nucleus;Nucleoplasm Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant;Neuropathy, hereditary sensory, 1E PE1 19 +NX_P26367 422 46683 9.45 0 Nucleus;Nucleoplasm Coloboma of optic nerve;Bilateral optic nerve hypoplasia;Keratitis hereditary;Coloboma, ocular, autosomal dominant;Foveal hypoplasia 1;Aniridia 1;Anterior segment dysgenesis 5;Aniridia 2 PE1 11 +NX_P26368 475 53501 9.19 0 Nucleus;Nucleoplasm;Nucleus speckle NA PE1 19 +NX_P26371 169 16276 8.34 0 NA NA PE1 11 +NX_P26373 211 24261 11.65 0 Nucleolus;Cytoplasm;Endoplasmic reticulum;Cytosol;Nucleolus NA PE1 16 +NX_P26374 656 74071 4.84 0 Cytosol;Cytosol;Nucleoplasm NA PE1 1 +NX_P26378 380 41770 9.45 0 NA NA PE1 1 +NX_P26436 265 28156 4.68 0 Acrosome NA PE1 11 +NX_P26439 372 42052 8.12 1 Endoplasmic reticulum membrane;Mitochondrion membrane Adrenal hyperplasia 2 PE1 1 +NX_P26440 423 46319 8.45 0 Nucleoplasm;Mitochondrion;Mitochondrion matrix Isovaleric acidemia PE1 15 +NX_P26441 200 22931 6.35 0 Cytoplasmic vesicle;Cytoplasm NA PE1 11 +NX_P26447 101 11729 5.85 0 Cell membrane NA PE1 1 +NX_P26572 445 50878 9.25 1 Golgi apparatus membrane NA PE1 5 +NX_P26583 209 24034 7.62 0 Nucleus;Nucleus;Nucleolus;Chromosome;Cytoplasm;Secreted NA PE1 4 +NX_P26599 531 57221 9.22 0 Nucleus;Nucleus;Nucleoplasm NA PE1 19 +NX_P26639 723 83435 6.23 0 Cytoplasm;Cytosol;Cytoplasm;Cytoskeleton NA PE1 5 +NX_P26640 1264 140476 7.53 0 Cytosol NA PE1 6 +NX_P26641 437 50119 6.25 0 Cytoplasm;Mitochondrion NA PE1 11 +NX_P26651 326 34003 8.86 0 Nucleus;Cytoplasm;Cytoplasmic granule;P-body;Cytoplasmic vesicle NA PE1 19 +NX_P26678 52 6109 9.5 1 Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane;Mitochondrion membrane;Membrane Cardiomyopathy, familial hypertrophic 18;Cardiomyopathy, dilated 1P PE1 6 +NX_P26715 233 26314 8.53 1 Membrane NA PE1 12 +NX_P26717 231 26072 8.69 1 Membrane NA PE1 12 +NX_P26718 216 25274 8.56 1 Cell membrane;Cell membrane NA PE1 12 +NX_P26842 260 29137 7.8 1 Membrane Lymphoproliferative syndrome 2 PE1 12 +NX_P26885 142 15649 9.24 0 Endoplasmic reticulum membrane;Cell membrane NA PE1 11 +NX_P26927 711 80320 7.98 0 Secreted NA PE1 3 +NX_P26951 378 43330 8.6 1 Cell membrane;Membrane NA PE1 X +NX_P26992 372 40633 6.26 0 Golgi apparatus;Cell membrane NA PE1 9 +NX_P26998 211 24252 6.25 0 NA Cataract 22, multiple types PE1 22 +NX_P27037 513 57848 5.61 1 Cytosol;Membrane NA PE1 2 +NX_P27105 288 31731 7.71 0 Cell membrane;Cytoskeleton;Cell membrane;Cytoplasmic vesicle;Melanosome;Cytosol;Membrane raft NA PE1 9 +NX_P27144 223 25268 8.47 0 Mitochondrion;Mitochondrion matrix NA PE1 1 +NX_P27169 355 39731 5.08 0 Extracellular space Microvascular complications of diabetes 5 PE1 7 +NX_P27216 316 35415 5.47 0 Cell membrane;Cell membrane NA PE1 8 +NX_P27338 520 58763 7.2 1 Mitochondrion;Nucleolus;Mitochondrion outer membrane NA PE1 X +NX_P27348 245 27764 4.68 0 Cytoplasm;Cytosol;Nucleoplasm NA PE1 2 +NX_P27352 417 45416 5.8 0 Secreted Hereditary intrinsic factor deficiency PE1 11 +NX_P27361 379 43136 6.28 0 Nucleoplasm;Nucleus;Caveola;Cytoplasm NA PE1 16 +NX_P27448 753 84489 9.59 0 Cell membrane;Nucleus membrane NA PE1 14 +NX_P27449 155 15736 7.98 4 Cytosol;Vacuole membrane NA PE1 16 +NX_P27469 103 11321 9.73 0 Mitochondrion NA PE1 1 +NX_P27482 149 16891 4.3 0 NA NA PE1 10 +NX_P27487 766 88279 5.67 1 Invadopodium membrane;Lamellipodium membrane;Cell junction;Membrane raft;Secreted;Cell membrane;Apical cell membrane NA PE1 2 +NX_P27539 372 39475 9.51 0 Secreted Tetralogy of Fallot;Right atrial isomerism;Conotruncal heart malformations;Transposition of the great arteries dextro-looped 3 PE1 19 +NX_P27540 789 86636 6.11 0 Nucleus;Nucleus;Nucleus NA PE1 1 +NX_P27544 350 39536 9.17 6 Endoplasmic reticulum;Golgi apparatus membrane;Endoplasmic reticulum membrane Epilepsy, progressive myoclonic 8 PE1 19 +NX_P27635 214 24604 10.11 0 Nucleus Mental retardation, X-linked, syndromic, 35;Autism, X-linked 5 PE1 X +NX_P27658 744 73364 9.62 0 Cytoplasmic vesicle;Basement membrane NA PE1 3 +NX_P27694 616 68138 6.92 0 PML body;Nucleus;Nucleoplasm NA PE1 17 +NX_P27695 318 35555 8.33 0 Mitochondrion;Nucleus;Nucleolus;Nucleus speckle;Endoplasmic reticulum;Cytoplasm;Nucleus NA PE1 14 +NX_P27701 267 29626 5.14 4 Membrane;Cytoplasmic vesicle NA PE1 11 +NX_P27707 260 30519 5.14 0 Nucleus;Nucleus NA PE1 4 +NX_P27708 2225 242984 6.02 0 Nucleoplasm;Nucleus;Cytoplasm Epileptic encephalopathy, early infantile, 50 PE1 2 +NX_P27797 417 48142 4.29 0 Extracellular matrix;Endoplasmic reticulum lumen;Cytosol;Cell surface;Sarcoplasmic reticulum lumen NA PE1 19 +NX_P27815 886 98143 5.09 0 Perinuclear region;Membrane;Cytoplasm;Membrane;Ruffle membrane;Cell membrane NA PE1 19 +NX_P27816 1152 121005 5.32 0 Cytoskeleton;Cytosol;Cytoskeleton;Cell membrane;Cytoskeleton NA PE1 3 +NX_P27824 592 67568 4.47 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Endoplasmic reticulum;Melanosome NA PE1 5 +NX_P27918 469 51276 8.32 0 Secreted Properdin deficiency PE1 X +NX_P27930 398 45421 8.03 1 Secreted;Cell membrane NA PE1 2 +NX_P27986 724 83598 5.84 0 Cytosol Immunodeficiency 36;Agammaglobulinemia 7, autosomal recessive;SHORT syndrome PE1 5 +NX_P27987 946 102376 8.7 0 Nucleus NA PE1 1 +NX_P28039 575 65105 8.45 0 Nucleus;Cytoplasm;Lysosome;Secreted NA PE1 7 +NX_P28062 276 30354 7.04 0 Cytoskeleton;Cytoplasmic vesicle;Nucleus;Cytoplasm Nakajo syndrome PE1 6 +NX_P28065 219 23264 4.93 0 Cytosol;Cytoplasm;Nucleus NA PE1 6 +NX_P28066 241 26411 4.74 0 Nucleus;Cytoplasm NA PE1 1 +NX_P28067 261 29194 4.51 1 Late endosome membrane;Lysosome membrane;Cytoplasmic vesicle NA PE1 6 +NX_P28068 263 28943 7.09 1 Late endosome membrane;Lysosome membrane NA PE1 6 +NX_P28069 291 32912 8.36 0 Nucleus Pituitary hormone deficiency, combined, 1 PE1 3 +NX_P28070 264 29204 5.72 0 Cytoplasm;Nucleus;Cytoplasm NA PE1 1 +NX_P28072 239 25358 4.8 0 Nucleus;Cytoplasm;Cytosol;Nucleus;Nucleoplasm;Cytoplasm NA PE1 17 +NX_P28074 263 28480 6.44 0 Nucleus;Centrosome;Cytoplasm;Nucleus NA PE1 14 +NX_P28161 218 25745 5.99 0 Cytosol;Cytoplasmic vesicle;Cytoplasm;Nucleoplasm NA PE1 1 +NX_P28221 377 41907 9.03 7 Cell membrane NA PE1 1 +NX_P28222 390 43568 8.96 7 Cell membrane;Cell membrane NA PE1 6 +NX_P28223 471 52603 7.83 7 Caveola;Cell membrane;Dendrite;Axon;Cytoplasmic vesicle NA PE1 13 +NX_P28288 659 75476 9.41 4 Peroxisome;Peroxisome membrane Congenital bile acid synthesis defect 5 PE1 1 +NX_P28289 359 40569 5.03 0 Cytoskeleton;Cytosol NA PE1 9 +NX_P28290 1259 138386 5.11 0 Nucleus;Cytoplasm;Cytosol;Cell membrane NA PE1 2 +NX_P28300 417 46944 8.36 0 Endoplasmic reticulum;Extracellular space;Secreted Aortic aneurysm, familial thoracic 10 PE1 5 +NX_P28324 431 46900 7.68 0 Nucleoplasm;Nucleus NA PE1 1 +NX_P28325 142 16080 6.71 0 Secreted NA PE1 20 +NX_P28328 305 34843 8.98 2 Peroxisome membrane;Cytoplasmic vesicle Peroxisome biogenesis disorder complementation group 5;Peroxisome biogenesis disorder 5A;Peroxisome biogenesis disorder 5B PE1 8 +NX_P28329 748 82536 8.9 0 NA Myasthenic syndrome, congenital, 6, presynaptic PE1 10 +NX_P28330 430 47656 7.68 0 Mitochondrion matrix Acyl-CoA dehydrogenase very long-chain deficiency PE1 2 +NX_P28331 727 79468 5.89 0 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency PE1 2 +NX_P28332 368 39089 8.05 0 Cytoplasm NA PE1 4 +NX_P28335 458 51821 9.13 7 Cell membrane NA PE1 X +NX_P28336 390 43435 8.93 7 Cell membrane;Cytosol;Cell membrane NA PE1 6 +NX_P28340 1107 123631 6.64 0 Nucleoplasm;Nucleus Colorectal cancer 10;Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome PE1 19 +NX_P28347 426 47946 8.33 0 Nucleus;Cytosol;Nucleus Sveinsson chorioretinal atrophy PE1 11 +NX_P28356 352 36495 9.36 0 Nucleolus;Nucleus;Nucleus NA PE1 2 +NX_P28358 340 38411 8.62 0 Cytosol;Nucleoplasm;Cytosol;Nucleus Vertical talus, congenital PE1 2 +NX_P28360 303 31496 9.89 0 Nucleoplasm;Nucleus Non-syndromic orofacial cleft 5;Tooth agenesis, selective, 1;Ectodermal dysplasia 3, Witkop type PE1 4 +NX_P28370 1054 122605 8.27 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA PE1 X +NX_P28472 473 54116 9.21 4 Postsynaptic cell membrane;Cell membrane;Cytoplasmic vesicle membrane Epileptic encephalopathy, early infantile, 43;Epilepsy, childhood absence 5 PE1 15 +NX_P28476 465 54151 9.27 4 Postsynaptic cell membrane;Cell membrane NA PE2 6 +NX_P28482 360 41390 6.5 0 Cytoplasm;Nucleus;Spindle;Caveola;Nucleus;Centrosome;Cytoplasm NA PE1 22 +NX_P28562 367 39298 6.78 0 Nucleolus;Cytosol;Nucleus NA PE1 5 +NX_P28566 365 41682 9.09 7 Cell membrane NA PE1 6 +NX_P28676 217 24010 5.02 0 Cytosol;Cell membrane;Cytoplasmic granule membrane;Cytoplasm NA PE1 2 +NX_P28698 734 82055 8.59 0 Nucleus;Nucleus NA PE1 19 +NX_P28702 533 56922 8.52 0 Nucleus;Nucleus NA PE1 6 +NX_P28715 1186 133108 5.13 0 Nucleoplasm;Nucleus Cerebro-oculo-facio-skeletal syndrome 3;Xeroderma pigmentosum complementation group G PE1 13 +NX_P28749 1068 120847 7.32 0 Nucleoplasm;Nucleus NA PE1 20 +NX_P28799 593 63544 6.43 0 Endoplasmic reticulum;Endosome;Lysosome;Secreted Ceroid lipofuscinosis, neuronal, 11;Ubiquitin-positive frontotemporal dementia PE1 17 +NX_P28827 1452 163682 6.21 1 Membrane;Cell membrane NA PE1 18 +NX_P28838 519 56166 8.03 0 Cytosol;Nucleoplasm;Midbody;Cytoplasm;Cytoplasm NA PE1 4 +NX_P28845 292 32401 8.71 1 Endoplasmic reticulum membrane Cortisone reductase deficiency PE1 1 +NX_P28906 385 40716 7 1 Membrane;Cell membrane;Cell junction;Nucleus NA PE1 1 +NX_P28907 300 34328 7.85 1 Cell membrane;Membrane NA PE1 4 +NX_P28908 595 63747 5.44 1 Cell membrane;Cytoplasm NA PE1 1 +NX_P29016 333 36939 5.89 1 Cell membrane;Endosome membrane;Lysosome membrane NA PE1 1 +NX_P29017 333 37654 5.7 1 Cell membrane;Endosome membrane;Lysosome NA PE1 1 +NX_P29033 226 26215 9.11 4 Mitochondrion;Cell membrane;Gap junction Vohwinkel syndrome;Deafness, autosomal dominant, 3A;Keratitis-ichthyosis-deafness syndrome;Deafness, autosomal recessive, 1A;Ichthyosis hystrix-like with deafness syndrome;Keratoderma, palmoplantar, with deafness;Bart-Pumphrey syndrome PE1 13 +NX_P29034 98 11117 4.68 0 Cytoplasm;Cell membrane;Nucleus;Cytosol;Nucleolus NA PE1 1 +NX_P29074 926 105911 7.15 0 Cell membrane;Cytosol;Nucleus;Cell membrane;Cytoskeleton NA PE1 2 +NX_P29083 439 49452 4.74 0 Nucleus;Cytosol;Nucleus NA PE1 3 +NX_P29084 291 33044 9.66 0 Nucleoplasm;Cytosol;Nucleus Trichothiodystrophy 6, non-photosensitive PE1 8 +NX_P29120 753 84152 5.66 0 Secretory vesicle Proprotein convertase 1 deficiency PE1 5 +NX_P29122 969 106420 7.96 0 Secreted;Endomembrane system;Endoplasmic reticulum NA PE1 15 +NX_P29144 1249 138350 5.9 0 Nucleus;Cytoplasm;Nucleus;Cytosol NA PE1 13 +NX_P29218 277 30189 5.16 0 Cytoplasm;Nucleoplasm;Mitochondrion Mental retardation, autosomal recessive 59 PE1 8 +NX_P29274 412 44707 8.34 7 Cell membrane NA PE1 22 +NX_P29275 332 36333 8.62 7 Cell membrane;Cytosol NA PE2 17 +NX_P29279 349 38091 8.43 0 Secreted;Extracellular matrix;Cytoplasmic vesicle;Golgi apparatus NA PE1 6 +NX_P29317 976 108266 5.86 1 Cytoplasmic vesicle;Cell membrane;Ruffle membrane;Lamellipodium membrane;Focal adhesion Cataract 6, multiple types PE1 1 +NX_P29320 983 110131 6.33 1 Cytosol;Cell membrane;Golgi apparatus;Secreted;Nucleoplasm Colorectal cancer PE1 3 +NX_P29322 1005 111003 8.42 1 Cell membrane;Cell projection;Early endosome membrane NA PE1 1 +NX_P29323 1055 117493 6.14 1 Nucleus;Cell membrane;Axon;Cell membrane;Dendrite Prostate cancer PE1 1 +NX_P29350 595 67561 7.65 0 Nucleolus;Nucleus;Nucleus;Cytoplasm NA PE1 12 +NX_P29353 583 62822 6.01 0 Mitochondrion matrix;Cytosol;Cytoplasm;Mitochondrion NA PE1 1 +NX_P29371 465 52202 9.42 7 Cell membrane Hypogonadotropic hypogonadism 11 with or without anosmia PE1 4 +NX_P29372 298 32869 9.65 0 Nucleoplasm;Cytoplasm;Cytosol;Mitochondrion nucleoid;Nucleus NA PE1 16 +NX_P29373 138 15693 5.42 0 Cytosol;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Nucleus NA PE1 1 +NX_P29374 1257 142752 5.02 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA PE1 14 +NX_P29375 1690 192095 6.12 0 Cytosol;Nucleus;Nucleus;Nucleolus NA PE1 12 +NX_P29376 864 91681 6.07 1 Membrane;Cytoplasmic vesicle NA PE1 15 +NX_P29377 79 9016 4.69 0 NA NA PE1 X +NX_P29400 1685 161044 7.71 0 Lipid droplet;Basement membrane Alport syndrome, X-linked PE1 X +NX_P29401 623 67878 7.58 0 Nucleoplasm Short stature, developmental delay, and congenital heart defects PE1 3 +NX_P29459 219 24874 6.21 0 Secreted NA PE1 3 +NX_P29460 328 37169 5.52 0 Secreted Psoriasis 11;Immunodeficiency 29 PE1 5 +NX_P29466 404 45159 5.63 0 Nucleoplasm;Cytosol;Cytoplasm NA PE1 11 +NX_P29474 1203 133289 6.94 0 Cell membrane;Caveola;Cytoskeleton;Golgi apparatus NA PE1 7 +NX_P29475 1434 160970 7.1 0 Nucleoplasm;Sarcolemma;Dendritic spine;Cell membrane NA PE1 12 +NX_P29508 390 44565 6.35 0 Cytoplasm;Cell membrane;Cytosol NA PE1 18 +NX_P29536 600 67030 9.35 0 Cytosol;Cytoskeleton;Sarcomere NA PE1 1 +NX_P29558 406 44505 8.91 0 Cytosol;Nucleus NA PE1 2 +NX_P29590 882 97551 5.88 0 Nucleus;Nucleus;Nucleoplasm;Cytoplasm;PML body;Nucleolus;Endoplasmic reticulum membrane;Early endosome membrane NA PE1 15 +NX_P29597 1187 133650 6.71 0 Cytosol Immunodeficiency 35 PE1 19 +NX_P29622 427 48542 7.34 0 Secreted NA PE1 14 +NX_P29692 281 31122 4.9 0 Nucleus;Nucleus;Nucleolus NA PE1 8 +NX_P29728 719 82431 8.55 0 Cytosol;Nucleoplasm;Microsome;Endoplasmic reticulum;Cytoplasm;Perinuclear region;Mitochondrion;Nucleus NA PE1 12 +NX_P29762 137 15566 5.3 0 Cytoplasm NA PE1 15 +NX_P29803 388 42933 8.76 0 Mitochondrion matrix NA PE1 4 +NX_P29965 261 29274 8.53 1 Cell surface;Secreted;Cell membrane X-linked immunodeficiency with hyper-IgM 1 PE1 X +NX_P29966 332 31555 4.47 0 Membrane;Nucleolus;Cell membrane;Cytosol;Cytoskeleton NA PE1 6 +NX_P29972 269 28526 6.95 6 Cell membrane;Cell membrane NA PE1 7 +NX_P29973 690 79586 7.85 6 Cytoplasmic vesicle;Cell membrane;Membrane Retinitis pigmentosa 49 PE1 4 +NX_P29992 359 42123 5.51 0 Cell membrane;Cytoplasm Hypocalciuric hypercalcemia, familial 2;Hypocalcemia, autosomal dominant 2 PE1 19 +NX_P30038 563 61719 8.25 0 Mitochondrion matrix Hyperprolinemia 2 PE1 1 +NX_P30039 288 31785 6.06 0 Cytoplasmic vesicle NA PE1 10 +NX_P30040 261 28993 6.77 0 Endoplasmic reticulum;Cytoskeleton;Melanosome;Nucleoplasm;Endoplasmic reticulum lumen NA PE1 12 +NX_P30041 224 25035 6 0 Cytosol;Lysosome;Cytoplasm;Cell membrane NA PE1 1 +NX_P30042 268 28170 8.5 0 Mitochondrion NA PE1 21 +NX_P30043 206 22119 7.13 0 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm NA PE1 19 +NX_P30044 214 22086 8.93 0 Cytoplasm;Cytosol;Peroxisome matrix;Mitochondrion;Cytoplasm;Mitochondrion NA PE1 11 +NX_P30046 118 12712 6.72 0 Cytoplasm;Mitochondrion;Cytoplasm NA PE1 22 +NX_P30047 84 9698 6.08 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus membrane;Nucleus NA PE1 15 +NX_P30048 256 27693 7.68 0 Mitochondrion;Cytoplasm NA PE1 10 +NX_P30049 168 17490 5.38 0 Mitochondrion;Mitochondrion inner membrane NA PE1 19 +NX_P30050 165 17819 9.48 0 NA NA PE1 9 +NX_P30084 290 31387 8.34 0 Mitochondrion;Mitochondrion matrix Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency PE1 10 +NX_P30085 196 22222 5.44 0 Nucleus;Cytoplasm;Nucleus NA PE1 1 +NX_P30086 187 21057 7.01 0 Cytosol;Cell membrane;Cytoplasm NA PE1 12 +NX_P30101 505 56782 5.98 0 Endoplasmic reticulum;Endoplasmic reticulum lumen;Endoplasmic reticulum;Melanosome NA PE1 15 +NX_P30153 589 65309 5 0 Cytosol;Dendrite;Lateral cell membrane;Cytoplasm;Centromere Mental retardation, autosomal dominant 36 PE1 19 +NX_P30154 601 66214 4.84 0 Nucleus;Centrosome;Cell membrane;Cytosol NA PE1 11 +NX_P30203 668 71801 4.82 1 Cell membrane;Secreted NA PE1 11 +NX_P30260 824 91867 6.59 0 Cytoplasm;Nucleus;Nucleoplasm NA PE1 17 +NX_P30273 86 9667 6.54 1 Cell membrane NA PE1 1 +NX_P30279 289 33067 5.06 0 Nucleus;Cytoplasm;Membrane;Nucleoplasm Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 PE1 12 +NX_P30281 292 32520 6.66 0 Cytosol;Cell membrane;Focal adhesion;Membrane;Cytoplasm;Nucleus NA PE1 6 +NX_P30291 646 71597 6.33 0 Nucleolus;Nucleus NA PE1 11 +NX_P30301 263 28122 8.62 6 Gap junction;Cell membrane Cataract 15, multiple types PE1 12 +NX_P30304 524 59087 6.49 0 Nucleus;Cytoplasmic vesicle;Golgi apparatus NA PE1 3 +NX_P30305 580 64987 6 0 Spindle pole;Centrosome;Cytosol;Nucleoplasm NA PE1 20 +NX_P30307 473 53365 6.34 0 Nucleus speckle;Nucleus NA PE1 5 +NX_P30405 207 22040 9.49 0 Mitochondrion;Mitochondrion matrix NA PE1 10 +NX_P30408 202 21632 4.88 4 Cell membrane;Membrane NA PE1 3 +NX_P30411 391 44461 8.5 7 Cell membrane NA PE1 14 +NX_P30414 1462 165677 10.01 0 Nucleoplasm;Cell membrane;Cytosol;Membrane NA PE1 3 +NX_P30419 496 56806 7.65 0 Cytoplasm;Cell membrane;Cytosol;Cytoplasm;Cytosol;Membrane NA PE1 17 +NX_P30443 365 40846 6.09 1 Membrane NA PE1 6 +NX_P30447 365 40733 5.91 1 Membrane NA PE1 6 +NX_P30450 365 41062 6.08 1 Membrane NA PE1 6 +NX_P30453 365 41055 5.89 1 Membrane NA PE1 6 +NX_P30455 365 40934 5.96 1 Membrane NA PE1 6 +NX_P30456 365 41033 5.96 1 Membrane NA PE1 6 +NX_P30457 365 41082 5.89 1 Membrane NA PE1 6 +NX_P30459 365 40891 6.02 1 Membrane NA PE1 6 +NX_P30460 362 40331 5.46 1 Membrane NA PE1 6 +NX_P30461 362 40474 5.77 1 Membrane NA PE1 6 +NX_P30462 362 40358 5.56 1 Membrane NA PE1 6 +NX_P30464 362 40388 5.9 1 Membrane Stevens-Johnson syndrome PE1 6 +NX_P30466 362 40275 6.27 1 Membrane NA PE1 6 +NX_P30475 362 40328 5.77 1 Membrane NA PE1 6 +NX_P30479 362 40539 6.09 1 Membrane NA PE1 6 +NX_P30480 362 40333 5.56 1 Membrane NA PE1 6 +NX_P30481 362 40481 5.7 1 Membrane NA PE1 6 +NX_P30483 362 40414 6.03 1 Membrane NA PE1 6 +NX_P30484 362 40440 6.17 1 Membrane NA PE1 6 +NX_P30485 362 40571 5.78 1 Membrane NA PE1 6 +NX_P30486 362 40362 5.67 1 Membrane NA PE1 6 +NX_P30487 362 40581 6.03 1 Membrane NA PE1 6 +NX_P30488 362 40541 6.03 1 Membrane NA PE1 6 +NX_P30490 362 40521 5.85 1 Membrane NA PE1 6 +NX_P30491 362 40495 6.02 1 Membrane NA PE1 6 +NX_P30492 362 40380 5.89 1 Membrane NA PE1 6 +NX_P30493 362 40496 5.66 1 Membrane NA PE1 6 +NX_P30495 362 40478 5.77 1 Membrane NA PE1 6 +NX_P30498 362 40478 5.84 1 Membrane NA PE1 6 +NX_P30499 366 40965 5.49 1 Membrane NA PE1 6 +NX_P30501 366 41095 5.76 1 Membrane NA PE1 6 +NX_P30504 366 40995 6.04 1 Membrane NA PE1 6 +NX_P30505 366 40773 6.52 1 Membrane NA PE1 6 +NX_P30508 366 40886 5.91 1 Membrane NA PE1 6 +NX_P30510 366 40838 5.79 1 Membrane NA PE1 6 +NX_P30511 346 39062 5.37 1 Membrane NA PE1 6 +NX_P30512 365 40863 6.52 1 Membrane NA PE1 6 +NX_P30518 371 40279 9.49 7 Cell membrane Nephrogenic syndrome of inappropriate antidiuresis;Diabetes insipidus, nephrogenic, X-linked PE1 X +NX_P30519 316 36033 5.31 0 Endoplasmic reticulum;Microsome;Cytoplasmic vesicle;Cytosol NA PE1 16 +NX_P30520 456 50097 6.13 0 Cytosol;Cell membrane;Cytoplasm NA PE1 1 +NX_P30530 894 98336 5.27 1 Cell membrane;Cytoskeleton NA PE1 19 +NX_P30531 599 67074 8.39 12 Mitochondrion;Cell membrane;Membrane Myoclonic-atonic epilepsy PE1 3 +NX_P30532 468 53054 6.52 4 Cell membrane;Focal adhesion;Postsynaptic cell membrane;Cell membrane NA PE1 15 +NX_P30533 357 41466 8.73 0 Rough endoplasmic reticulum lumen;Endoplasmic reticulum;Endoplasmic reticulum-Golgi intermediate compartment lumen;cis-Golgi network;Golgi apparatus lumen;Endosome lumen;Cell surface Myopia 23, autosomal recessive PE1 4 +NX_P30536 169 18828 9.43 5 Mitochondrion membrane;Cytoplasmic vesicle;Mitochondrion;Cytosol NA PE1 22 +NX_P30542 326 36512 8.9 7 Cell membrane;Cell membrane NA PE1 1 +NX_P30550 384 43199 8.78 7 Cell membrane;Cell membrane NA PE1 X +NX_P30556 359 41061 9.44 7 Cytoplasmic vesicle;Cell membrane Renal tubular dysgenesis PE1 3 +NX_P30559 389 42772 9.63 7 Cell membrane NA PE1 3 +NX_P30566 484 54889 6.68 0 Cytosol Adenylosuccinase deficiency PE1 22 +NX_P30613 574 61830 7.65 0 Cytosol Pyruvate kinase hyperactivity;Pyruvate kinase deficiency of red cells PE1 1 +NX_P30622 1438 162246 5.29 0 Cytoplasm;Cytoskeleton;Cytosol;Cytoskeleton;Cytoplasmic vesicle membrane;Ruffle NA PE1 12 +NX_P30626 198 21676 5.32 0 Cytosol;Nucleoplasm;Cytoplasm;Sarcoplasmic reticulum membrane NA PE1 7 +NX_P30679 374 43568 8.74 0 NA NA PE1 19 +NX_P30685 362 40455 6.02 1 Membrane NA PE1 6 +NX_P30711 240 27335 7.01 0 Cytoplasm NA PE1 22 +NX_P30740 379 42742 5.9 0 Cytoplasm;Cytoplasmic granule NA PE1 6 +NX_P30793 250 27903 8.73 0 Nucleus membrane;Nucleoplasm;Cytosol;Cytoplasm;Nucleus Dystonia, dopa-responsive;Hyperphenylalaninemia, BH4-deficient, B PE1 14 +NX_P30825 629 67638 5.29 14 Membrane NA PE1 13 +NX_P30837 517 57206 6.36 0 Nucleoplasm;Cytoplasmic vesicle;Mitochondrion;Mitochondrion matrix NA PE1 9 +NX_P30838 453 50395 6.11 0 Cell membrane;Cytosol;Cytoplasm;Cytoplasmic vesicle NA PE1 17 +NX_P30872 391 42686 8.68 7 Cell membrane NA PE1 14 +NX_P30874 369 41333 9.15 7 Cytosol;Cytoplasm;Cell membrane NA PE1 17 +NX_P30876 1174 133897 6.44 0 Nucleoplasm;Nucleus NA PE1 4 +NX_P30926 498 56380 8.64 4 Postsynaptic cell membrane;Cell membrane NA PE1 15 +NX_P30939 366 41709 9.09 7 Cell membrane NA PE2 3 +NX_P30953 314 35264 7.98 7 Cell membrane NA PE3 17 +NX_P30954 320 35925 9.29 7 Cell membrane NA PE2 1 +NX_P30968 328 37731 9.56 7 Cell membrane Hypogonadotropic hypogonadism 7 with or without anosmia PE1 4 +NX_P30988 508 59352 8.98 7 Cell membrane NA PE1 7 +NX_P30989 418 46259 9.46 7 Cell membrane;Cell membrane;Membrane raft NA PE1 20 +NX_P30990 170 19795 6.59 0 Secreted;Secretory vesicle NA PE1 12 +NX_P31025 176 19250 5.39 0 Secreted NA PE1 9 +NX_P31040 664 72692 7.06 0 Mitochondrion;Mitochondrion inner membrane Paragangliomas 5;Cardiomyopathy, dilated 1GG;Leigh syndrome;Mitochondrial complex II deficiency PE1 5 +NX_P31146 461 51026 6.25 0 Cytoskeleton;Cytosol;Cell cortex;Phagosome membrane Immunodeficiency 8 PE1 16 +NX_P31150 447 50583 5 0 Cytoplasm;Cytoplasmic vesicle;trans-Golgi network;Cytoplasm Mental retardation, X-linked 41 PE1 X +NX_P31151 101 11471 6.27 0 Cytoplasm;Secreted NA PE1 1 +NX_P31152 587 65922 5.25 0 Cytoplasm;Nucleus NA PE1 18 +NX_P31153 395 43661 6.02 0 Cytosol;Nucleoplasm NA PE1 2 +NX_P31213 254 28393 9.47 4 Microsome membrane;Endoplasmic reticulum membrane Pseudovaginal perineoscrotal hypospadias PE1 2 +NX_P31249 432 45730 8.98 0 Nucleoplasm;Nucleus;Nucleus NA PE1 2 +NX_P31260 410 42414 8.63 0 Nucleus;Nucleoplasm;Nucleus NA PE1 7 +NX_P31267 233 26339 9.18 0 Nucleus NA PE2 7 +NX_P31268 230 25355 5.26 0 Nucleus membrane;Nucleoplasm;Nucleus NA PE1 7 +NX_P31269 272 30172 8.8 0 Nucleus;Nucleus;Nucleus NA PE1 7 +NX_P31270 313 34486 8.91 0 Nucleoplasm;Nucleus Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 PE1 7 +NX_P31271 388 39727 9.24 0 Cytoskeleton;Nucleoplasm;Nucleus Guttmacher syndrome;Hand-foot-genital syndrome PE1 7 +NX_P31273 242 27755 6.56 0 Nucleus;Nucleoplasm;Cytoskeleton NA PE1 12 +NX_P31274 260 29248 9.14 0 Nucleoplasm;Nucleus NA PE1 12 +NX_P31275 282 30171 8.93 0 Nucleus NA PE1 12 +NX_P31276 330 35379 9.11 0 Nucleus Ectodermal dysplasia 9, hair/nail type PE1 12 +NX_P31277 338 35197 9.02 0 Nucleoplasm;Nucleus NA PE1 2 +NX_P31314 330 34365 9.53 0 Nucleus NA PE1 10 +NX_P31321 381 43073 5.53 0 Cell membrane NA PE1 7 +NX_P31323 418 46302 4.82 0 Cytosol;Centrosome;Mitochondrion;Golgi apparatus;Cytoplasm;Cell membrane NA PE1 7 +NX_P31327 1500 164939 6.3 0 Mitochondrion;Nucleolus;Nucleolus Carbamoyl phosphate synthetase 1 deficiency;Pulmonary hypertension, neonatal PE1 2 +NX_P31350 389 44878 5.28 0 Cytosol;Cytoplasm NA PE1 2 +NX_P31358 61 6614 8 0 Cell membrane NA PE1 1 +NX_P31371 208 23441 7.06 0 Secreted Multiple synostoses syndrome 3 PE1 13 +NX_P31391 388 42003 9.09 7 Cell membrane NA PE2 20 +NX_P31415 396 45160 4.03 0 Mitochondrion;Nucleoplasm;Sarcoplasmic reticulum;Sarcoplasmic reticulum lumen;Sarcoplasmic reticulum membrane;Mitochondrion matrix Myopathy, vacuolar, with CASQ1 aggregates PE1 1 +NX_P31431 198 21642 4.39 1 Cell membrane;Golgi apparatus;Membrane;Secreted NA PE1 20 +NX_P31483 386 42963 7.62 0 Nucleoplasm;Cytosol;Cytoplasmic granule;Nucleus Welander distal myopathy PE1 2 +NX_P31512 558 63343 8.74 1 Microsome membrane;Endoplasmic reticulum membrane NA PE1 1 +NX_P31513 532 60033 7.9 0 Microsome membrane;Endoplasmic reticulum membrane Trimethylaminuria PE1 1 +NX_P31629 2446 269053 6.5 0 Nucleoplasm;Nucleus Mental retardation, autosomal dominant 43 PE1 6 +NX_P31639 672 72897 7.45 11 Membrane Renal glucosuria PE1 16 +NX_P31641 620 69830 7.37 12 Cell junction;Cytosol;Cell membrane NA PE1 3 +NX_P31644 462 52146 9.22 4 Cell junction;Postsynaptic cell membrane;Cell membrane NA PE1 15 +NX_P31645 630 70325 5.89 12 Cytoplasmic vesicle;Golgi apparatus;Endosome membrane;Cell membrane;Endomembrane system NA PE1 17 +NX_P31689 397 44868 6.65 0 Cell membrane;Cytoplasm;Cytosol;Membrane;Cytoskeleton;Cytoplasm;Microsome;Nucleus;Perinuclear region;Mitochondrion NA PE1 9 +NX_P31749 480 55686 5.75 0 Cytoplasm;Nucleus;Cell membrane;Nucleus;Cytoskeleton Proteus syndrome;Cowden syndrome 6;Breast cancer;Colorectal cancer PE1 14 +NX_P31751 481 55769 5.98 0 Cytoplasmic vesicle;Cytosol;Early endosome;Cytoplasm;Nucleus;Cell membrane;Nucleus Diabetes mellitus, non-insulin-dependent;Hypoinsulinemic hypoglycemia with hemihypertrophy PE1 19 +NX_P31785 369 42287 5.9 1 Cytoplasmic vesicle;Membrane Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative;X-linked combined immunodeficiency PE1 X +NX_P31930 480 52646 5.94 0 Cytosol;Mitochondrion;Mitochondrion inner membrane NA PE1 3 +NX_P31937 336 35329 8.38 0 Mitochondrion NA PE1 7 +NX_P31939 592 64616 6.27 0 Cell membrane;Cytosol AICAR transformylase/IMP cyclohydrolase deficiency PE1 2 +NX_P31941 199 23012 6.34 0 Nucleus;Cytoplasm NA PE1 22 +NX_P31942 346 36926 6.37 0 Nucleoplasm;Nucleus NA PE1 10 +NX_P31943 449 49229 5.89 0 Nucleoplasm NA PE1 5 +NX_P31944 242 27680 5.44 0 Cytosol;Nucleus;Cytoplasm Ichthyosis, congenital, autosomal recessive 12 PE1 19 +NX_P31946 246 28082 4.76 0 Cytosol;Cytoplasm;Melanosome NA PE1 20 +NX_P31947 248 27774 4.68 0 Cytosol;Secreted;Nucleus;Cytoplasm NA PE1 1 +NX_P31948 543 62639 6.4 0 Cytoplasm;Nucleus;Cytosol;Cell membrane;Nucleoplasm;Nucleus;Cytoplasm NA PE1 11 +NX_P31949 105 11740 6.56 0 Nucleus;Cytoplasm;Nucleus;Cytoplasm NA PE1 1 +NX_P31994 310 34044 5.74 1 Cell membrane Systemic lupus erythematosus PE1 1 +NX_P31995 323 35578 6.4 1 Cytoplasm;Cell membrane NA PE1 1 +NX_P31997 349 38154 6.95 0 Cell membrane NA PE1 19 +NX_P32004 1257 140003 5.84 1 Axon;Cell membrane;Growth cone;Cell membrane;Dendrite;Nucleoplasm Hydrocephalus due to stenosis of the aqueduct of Sylvius;Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome;Agenesis of the corpus callosum, X-linked, partial PE1 X +NX_P32019 993 112852 5.37 0 Endoplasmic reticulum-Golgi intermediate compartment;Early endosome membrane;Cytosol;Cytosol;Phagosome membrane;Membrane;Golgi apparatus NA PE1 1 +NX_P32119 198 21892 5.66 0 Cytoplasm NA PE1 19 +NX_P32121 409 46106 7.59 0 Cytoplasmic vesicle;Cytoplasmic vesicle;Cell membrane;Nucleus;Cytoplasm;Clathrin-coated pit NA PE1 17 +NX_P32189 559 61245 6.12 0 Mitochondrion outer membrane;Cytoplasm Glycerol kinase deficiency PE1 X +NX_P32238 428 47841 9.37 7 Cell membrane NA PE1 4 +NX_P32239 447 48419 10.03 7 Cell membrane NA PE1 11 +NX_P32241 457 51547 8.52 7 Cell membrane NA PE1 3 +NX_P32242 354 37327 9.41 0 Nucleus speckle;Cytosol;Nucleus NA PE1 2 +NX_P32243 289 31636 9.4 0 Nucleus Pituitary hormone deficiency, combined, 6;Microphthalmia, syndromic, 5;Retinal dystrophy, early-onset, with or without pituitary dysfunction PE1 14 +NX_P32245 332 36943 7.88 7 Cell membrane Obesity PE1 18 +NX_P32246 355 41173 8.38 7 Cell membrane NA PE1 3 +NX_P32247 399 44411 8.99 7 Cell membrane NA PE1 X +NX_P32248 378 42874 8.82 7 Mitochondrion;Cell membrane NA PE1 17 +NX_P32249 361 41224 9.31 7 Cell membrane;Nucleus membrane;Cytoplasmic vesicle NA PE1 13 +NX_P32297 505 57480 6.05 4 Cell membrane;Postsynaptic cell membrane NA PE1 15 +NX_P32298 578 66583 7.93 0 Cell cortex;Cytoplasm;Cytoplasmic vesicle NA PE1 4 +NX_P32302 372 41955 8.52 7 Cell membrane NA PE1 11 +NX_P32314 431 47161 5.98 0 Nucleus;Nucleus;Cytoplasmic vesicle NA PE1 2 +NX_P32320 146 16185 6.55 0 Nucleoplasm NA PE1 1 +NX_P32321 178 20016 7.5 0 Cytosol;Nucleoplasm NA PE1 4 +NX_P32322 319 33361 7.18 0 Mitochondrion Cutis laxa, autosomal recessive, 3B;Cutis laxa, autosomal recessive, 2B PE1 17 +NX_P32418 973 108547 4.91 10 Nucleoplasm;Cell membrane;Cell membrane NA PE1 2 +NX_P32455 592 67931 5.97 0 Secreted;Cell membrane;Golgi apparatus membrane;Cytoplasm NA PE1 1 +NX_P32456 591 67209 5.54 0 Nucleoplasm;Cytosol;Cytoskeleton;Cytoplasm;Perinuclear region;Golgi apparatus membrane;Membrane NA PE1 1 +NX_P32519 619 67498 5.09 0 Nucleoplasm;Nucleus NA PE1 13 +NX_P32745 418 45847 8.91 7 Cell membrane NA PE1 22 +NX_P32754 393 44934 6.52 0 Nucleus speckle Hawkinsinuria;Tyrosinemia 3 PE1 12 +NX_P32780 548 62032 8.8 0 Nucleus;Nucleoplasm NA PE1 11 +NX_P32856 288 33341 5.92 1 Cytosol;Nucleus;Membrane NA PE1 12 +NX_P32881 189 21989 5.32 0 Secreted NA PE1 9 +NX_P32926 999 107533 4.86 1 Cell membrane;Desmosome NA PE1 18 +NX_P32927 897 97336 5.33 1 Membrane;Golgi apparatus Pulmonary surfactant metabolism dysfunction 5 PE1 22 +NX_P32929 405 44508 6.21 0 Cytoplasm Cystathioninuria PE1 1 +NX_P32942 547 59541 5.31 1 Mitochondrion;Nucleus;Membrane;Nucleus membrane NA PE1 19 +NX_P32969 192 21863 9.96 0 Cytoplasm;Cytosol;Nucleolus;Endoplasmic reticulum;Nucleolus NA PE1 X +NX_P32970 193 21118 8.93 1 Nucleoplasm;Membrane NA PE1 19 +NX_P32971 234 26017 7.62 1 Membrane NA PE1 9 +NX_P33032 325 36601 8.75 7 Cell membrane NA PE1 18 +NX_P33076 1130 123514 5.3 0 Nucleus;PML body;Nucleoplasm Bare lymphocyte syndrome 2 PE1 16 +NX_P33121 698 77943 6.81 1 Peroxisome membrane;Microsome membrane;Mitochondrion outer membrane;Mitochondrion;Nucleus;Endoplasmic reticulum membrane NA PE1 4 +NX_P33151 784 87528 5.22 1 Cell membrane;Cell junction NA PE1 16 +NX_P33176 963 109685 6.12 0 Cytosol;Microtubule organizing center;Cytoskeleton NA PE1 10 +NX_P33240 577 60959 6.36 0 Nucleus;Nucleoplasm;Nucleus NA PE1 X +NX_P33241 339 37192 4.69 0 Cell membrane;Cell membrane NA PE1 11 +NX_P33260 490 55711 6.83 0 Microsome membrane;Endoplasmic reticulum membrane NA PE1 10 +NX_P33261 490 55931 7.11 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 10 +NX_P33316 252 26563 9.46 0 Nucleoplasm;Nucleus;Mitochondrion NA PE1 15 +NX_P33402 732 81750 7.77 0 Cytoplasm NA PE1 11 +NX_P33527 1531 171591 6.71 17 Cell membrane;Cell membrane NA PE1 16 +NX_P33552 79 9860 8.07 0 Cytoplasm NA PE1 9 +NX_P33681 288 33048 7.58 1 Membrane NA PE1 3 +NX_P33763 92 10744 5.01 0 Nucleoplasm NA PE1 1 +NX_P33764 101 11713 4.71 0 Nucleolus;Cytosol;Cytoplasm NA PE1 1 +NX_P33778 126 13950 10.31 0 Nucleus;Chromosome NA PE1 6 +NX_P33897 745 82937 9.09 5 Peroxisome membrane Adrenoleukodystrophy PE1 X +NX_P33908 653 72969 6.04 1 Cytosol;Golgi apparatus membrane;Golgi apparatus NA PE1 6 +NX_P33947 212 24422 8.86 7 Endoplasmic reticulum membrane NA PE1 7 +NX_P33981 857 97072 8.41 0 Nucleolus;Cytosol NA PE1 6 +NX_P33991 863 96558 6.28 0 Nucleoplasm;Nucleus Natural killer cell and glucocorticoid deficiency with DNA repair defect PE1 8 +NX_P33992 734 82286 8.64 0 Nucleus;Cytosol;Nucleoplasm Meier-Gorlin syndrome 8 PE1 22 +NX_P33993 719 81308 6.08 0 Nucleus;Nucleoplasm NA PE1 7 +NX_P34059 522 58026 6.25 0 Cytosol;Lysosome Mucopolysaccharidosis 4A PE1 16 +NX_P34096 147 16840 9.3 0 Secreted NA PE1 14 +NX_P34130 210 22427 9.01 0 Secreted;Golgi apparatus Glaucoma 1, open angle, O PE1 19 +NX_P34741 201 22160 4.75 1 Cytosol;Membrane;Cell membrane NA PE1 8 +NX_P34810 354 37408 9.1 1 Cell membrane;Endosome membrane;Lysosome membrane;Golgi apparatus;Cytoplasmic vesicle NA PE1 17 +NX_P34820 402 44768 8.76 0 Secreted NA PE1 1 +NX_P34896 483 53083 7.61 0 Cytosol;Cytoplasm;Nucleus NA PE1 17 +NX_P34897 504 55993 8.76 0 Mitochondrion;Mitochondrion;Cytoskeleton;Mitochondrion nucleoid;Mitochondrion inner membrane;Cytoplasm;Nucleus NA PE1 12 +NX_P34903 492 55165 8.81 4 Postsynaptic cell membrane;Cell membrane NA PE1 X +NX_P34910 448 48666 4.67 1 Membrane NA PE1 17 +NX_P34913 555 62616 5.91 0 Cytosol;Peroxisome;Cytoplasm NA PE1 8 +NX_P34925 604 67507 7.52 1 Nucleolus;Nucleus;Membrane;Nucleus;Cytoplasm NA PE1 3 +NX_P34931 641 70375 5.76 0 NA NA PE1 6 +NX_P34932 840 94331 5.11 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 5 +NX_P34947 590 67787 8.39 0 Nucleus speckle;Nucleus membrane;Cytoplasm;Cell membrane;Nucleus;Cell membrane NA PE1 10 +NX_P34949 423 46656 5.62 0 Cell membrane;Cytosol;Cytoplasm Congenital disorder of glycosylation 1B PE1 15 +NX_P34969 479 53555 9.09 7 Cytosol;Nucleus speckle;Cell membrane;Cell membrane NA PE1 10 +NX_P34972 360 39681 8.52 7 Cell membrane;Dendrite;Perikaryon NA PE1 1 +NX_P34981 398 45085 8.62 7 Cell membrane NA PE1 8 +NX_P34982 312 35240 9.07 7 Cell membrane NA PE1 17 +NX_P34995 402 41801 11.72 7 Cell membrane NA PE2 19 +NX_P34998 444 50719 9.47 7 Cell membrane;Endosome NA PE1 17 +NX_P35030 304 32529 7.46 0 Secreted NA PE1 9 +NX_P35052 558 61680 7.07 0 Cell membrane;Cytosol;Extracellular space;Endosome;Cell membrane NA PE1 2 +NX_P35070 178 19746 8.53 1 Extracellular space;Cell membrane NA PE1 4 +NX_P35080 140 15046 6.55 0 Cytoskeleton NA PE1 3 +NX_P35125 1406 158658 7.87 0 Cytoplasm;Cell membrane;Endosome NA PE1 17 +NX_P35212 333 37414 7.5 4 Cell membrane;Gap junction NA PE1 1 +NX_P35218 305 34750 7.18 0 Mitochondrion Hyperammonemia due to carbonic anhydrase VA deficiency PE1 16 +NX_P35219 290 32973 4.78 0 NA Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 PE1 8 +NX_P35221 906 100071 5.95 0 Cell junction;Cell membrane;Cell junction;Adherens junction;Cytoskeleton;Cell membrane Macular dystrophy, patterned, 2 PE1 5 +NX_P35222 781 85497 5.53 0 Cytoplasm;Nucleus;Cytoskeleton;Cell membrane;Spindle pole;Adherens junction;Synapse;Cell membrane;Centrosome;Cell junction Pilomatrixoma;Medulloblastoma;Mental retardation, autosomal dominant 19;Ovarian cancer;Colorectal cancer;Mesothelioma, malignant;Vitreoretinopathy, exudative 7 PE1 3 +NX_P35225 146 15816 8.69 0 Secreted;Cell membrane;Cytosol Allergic rhinitis PE1 5 +NX_P35226 326 36949 8.9 0 Nucleus;Nucleolus;Nucleus;Nucleus;Cytoplasm;Cytosol NA PE1 10 +NX_P35227 344 37788 8.21 0 Nucleus;Nucleus NA PE1 17 +NX_P35228 1153 131117 8.2 0 NA NA PE1 17 +NX_P35232 272 29804 5.57 0 Mitochondrion;Cytoplasmic vesicle;Mitochondrion inner membrane;Mitochondrion NA PE1 17 +NX_P35236 360 40529 6.33 0 Cytoplasm;Cytoskeleton NA PE1 1 +NX_P35237 376 42622 5.18 0 Cytoplasm;Centrosome;Cytoplasm Deafness, autosomal recessive, 91 PE1 6 +NX_P35240 595 69690 6.11 0 Filopodium membrane;Cytosol;Cytoskeleton;Ruffle membrane;Nucleus;Perinuclear region;Nucleus;Cytoplasmic granule;Cell membrane Mesothelioma, malignant;Schwannomatosis 1;Neurofibromatosis 2 PE1 22 +NX_P35241 583 68564 6.03 0 Cytoplasm;Cell membrane;Cell membrane;Cytoskeleton;Cleavage furrow Deafness, autosomal recessive, 24 PE1 11 +NX_P35243 200 23130 5.06 0 NA NA PE1 17 +NX_P35244 121 13569 4.96 0 Nucleus NA PE1 7 +NX_P35247 375 37728 6.25 0 Surface film;Extracellular matrix NA PE1 10 +NX_P35249 363 39682 8.26 0 Nucleus;Nucleoplasm NA PE1 3 +NX_P35250 354 39157 6.04 0 Nucleus;Golgi apparatus;Nucleoplasm NA PE1 7 +NX_P35251 1148 128255 9.38 0 Nucleus;Nucleolus;Nucleus;Nucleus NA PE1 4 +NX_P35268 128 14787 9.21 0 Nucleolus;Cytoplasm NA PE1 1 +NX_P35269 517 58240 7.04 0 Cell junction;Nucleus;Nucleus NA PE1 19 +NX_P35270 261 28048 8.25 0 Nucleoplasm;Cytosol;Cytoplasm Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency PE1 2 +NX_P35318 185 20420 10.84 0 Secreted NA PE1 11 +NX_P35321 89 9877 8.85 0 Cytoplasm NA PE1 1 +NX_P35325 72 7975 8.81 0 Cytoplasm NA PE2 1 +NX_P35326 72 7965 8.81 0 Cytoplasm NA PE1 1 +NX_P35346 364 39202 9.58 7 Cell membrane;Cell membrane NA PE1 16 +NX_P35348 466 51487 9.26 7 Nucleus membrane;Cell membrane;Caveola;Cytoplasm NA PE1 8 +NX_P35354 604 68996 7.02 0 Endoplasmic reticulum;Microsome membrane;Endoplasmic reticulum membrane NA PE1 1 +NX_P35367 487 55784 9.33 7 Cytosol;Cell membrane;Cell membrane NA PE1 3 +NX_P35368 520 56836 9.53 7 Cell membrane;Caveola;Nucleus membrane;Cell membrane;Cytoplasm NA PE1 5 +NX_P35372 400 44779 8.62 7 Endosome;Cytoplasm;Cell membrane;Axon;Perikaryon;Dendrite NA PE1 6 +NX_P35398 523 58975 6.3 0 Nucleus NA PE1 15 +NX_P35408 488 53119 9.08 7 Cell membrane NA PE1 5 +NX_P35410 378 42411 8.71 7 Cell membrane;Nucleoplasm;Cell membrane;Cytosol NA PE2 6 +NX_P35414 380 42660 7.46 7 Cell membrane NA PE1 11 +NX_P35442 1172 129991 4.62 0 Nucleus speckle;Cytosol;Cell membrane Intervertebral disc disease PE1 6 +NX_P35443 961 105869 4.44 0 Sarcoplasmic reticulum;Cytoplasmic vesicle;Secreted;Extracellular space;Extracellular matrix;Endoplasmic reticulum NA PE1 5 +NX_P35452 270 29031 9.82 0 Nucleus NA PE1 2 +NX_P35453 343 36101 9.5 0 Nucleus;Nucleus Synpolydactyly 1;Brachydactyly D;Brachydactyly-syndactyly-oligodactyly syndrome;Syndactyly 5;Brachydactyly-syndactyly syndrome;VACTERL association;Brachydactyly E1 PE1 2 +NX_P35462 400 44225 9.2 7 Cell membrane Tremor, hereditary essential 1;Schizophrenia PE1 3 +NX_P35475 653 72670 9.25 0 Lysosome Mucopolysaccharidosis 1H/S;Mucopolysaccharidosis 1S;Mucopolysaccharidosis 1H PE1 4 +NX_P35498 2009 228972 5.6 24 Cell membrane;Nucleoplasm;Nucleus;Cell membrane Generalized epilepsy with febrile seizures plus 2;Intractable childhood epilepsy with generalized tonic-clonic seizures;Migraine, familial hemiplegic, 3;Febrile seizures, familial, 3A;Epileptic encephalopathy, early infantile, 6 PE1 2 +NX_P35499 1836 208061 4.99 24 Nucleoplasm;Cell membrane;Microtubule organizing center Periodic paralysis normokalemic;Periodic paralysis hypokalemic 2;Periodic paralysis hyperkalemic;Paramyotonia congenita of von Eulenburg;Myotonia SCN4A-related;Myasthenic syndrome, congenital, 16 PE1 17 +NX_P35503 534 60338 8.41 1 Microsome;Endoplasmic reticulum membrane NA PE1 2 +NX_P35504 534 60071 8.24 1 Endoplasmic reticulum membrane;Microsome NA PE2 2 +NX_P35520 551 60587 6.2 0 Cytoplasm;Nucleus Cystathionine beta-synthase deficiency PE1 21 +NX_P35523 988 108626 5.68 10 Cell membrane Myotonia congenita, autosomal dominant;Myotonia congenita, autosomal recessive PE1 7 +NX_P35527 623 62064 5.14 0 NA Keratoderma, palmoplantar, epidermolytic PE1 17 +NX_P35542 130 14747 9.17 0 Secreted NA PE1 11 +NX_P35544 74 7760 4.31 0 NA NA PE1 11 +NX_P35548 267 28897 9.68 0 Nucleus speckle;Nucleus Parietal foramina 1;Parietal foramina with cleidocranial dysplasia;Craniosynostosis 2 PE1 5 +NX_P35555 2871 312237 4.81 0 Extracellular matrix;Cytosol;Secreted;Secreted Geleophysic dysplasia 2;Acromicric dysplasia;Stiff skin syndrome;Marfan syndrome;Marfan lipodystrophy syndrome;Overlap connective tissue disease;Weill-Marchesani syndrome 2;Ectopia lentis 1, isolated, autosomal dominant PE1 15 +NX_P35556 2912 314775 4.73 0 Nucleoplasm;Cytosol;Extracellular matrix Macular degeneration, early-onset;Arthrogryposis, distal, 9 PE1 5 +NX_P35557 465 52191 5.1 0 Golgi apparatus;Nucleus;Cytosol;Cytoplasm Maturity-onset diabetes of the young 2;Familial hyperinsulinemic hypoglycemia 3;Diabetes mellitus, non-insulin-dependent;Diabetes mellitus, permanent neonatal PE1 7 +NX_P35558 622 69195 5.8 0 Cytoplasm Cytosolic phosphoenolpyruvate carboxykinase deficiency PE1 20 +NX_P35568 1242 131591 8.83 0 Cytosol;Nucleoplasm Diabetes mellitus, non-insulin-dependent PE1 2 +NX_P35573 1532 174764 6.31 0 Cytoplasm;Nucleoplasm;Cytosol Glycogen storage disease 3 PE1 1 +NX_P35575 357 40484 8.72 9 Endoplasmic reticulum membrane Glycogen storage disease 1A PE1 17 +NX_P35579 1960 226532 5.5 0 Cell membrane;Cytosol;Cytoskeleton;Cytoskeleton;Cell cortex Deafness, autosomal dominant, 17;Macrothrombocytopenia and progressive sensorineural deafness;Epstein syndrome;Fechtner syndrome;Sebastian syndrome;May-Hegglin anomaly PE1 22 +NX_P35580 1976 228999 5.44 0 Lamellipodium;Mitochondrion;Cytosol;Cytoskeleton NA PE1 17 +NX_P35590 1138 125090 6.63 1 Cell membrane;Cytoplasmic vesicle NA PE1 1 +NX_P35606 906 102487 5.15 0 COPI-coated vesicle membrane;Golgi apparatus;Cytoplasm;Cytosol;Cytosol;Golgi apparatus membrane NA PE1 3 +NX_P35609 894 103854 5.31 0 Z line Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction;Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction PE1 1 +NX_P35610 550 64735 9.08 5 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 1 +NX_P35611 737 80955 5.6 0 Nucleoplasm;Cell membrane;Cell membrane;Cytoskeleton NA PE1 4 +NX_P35612 726 80854 5.67 0 Cell membrane;Cytoskeleton;Nucleoplasm;Cytosol;Cell membrane NA PE1 2 +NX_P35613 385 42200 5.39 1 Cell membrane;Melanosome;Cell membrane;Cytoplasmic vesicle NA PE1 19 +NX_P35625 211 24145 9 0 Extracellular matrix Sorsby fundus dystrophy PE1 22 +NX_P35626 688 79710 7.55 0 Cell membrane;Nucleus NA PE1 22 +NX_P35637 526 53426 9.4 0 Nucleus;Nucleoplasm Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia;Angiomatoid fibrous histiocytoma;Tremor, hereditary essential 4 PE1 16 +NX_P35638 169 19175 4.61 0 Nucleoplasm;Cytoplasm;Nucleus Myxoid liposarcoma PE1 12 +NX_P35658 2090 213620 7.15 0 Nucleus;Cytoplasmic vesicle;Focal adhesion;Nuclear pore complex NA PE1 9 +NX_P35659 375 42674 8.69 0 Nucleus;Nucleus;Nucleus NA PE1 6 +NX_P35663 651 74242 9.68 0 Calyx NA PE1 X +NX_P35670 1465 157263 6.25 8 Golgi apparatus;Cytoplasm;Mitochondrion;trans-Golgi network membrane;Late endosome;Golgi apparatus membrane Wilson disease PE1 13 +NX_P35680 557 61324 7.39 0 Nucleoplasm;Nucleus Diabetes mellitus, non-insulin-dependent;Prostate cancer, hereditary, 11;Renal cysts and diabetes syndrome PE1 17 +NX_P35711 763 84026 6.15 0 Nucleus;Nucleoplasm Lamb-Shaffer syndrome PE1 12 +NX_P35712 828 91921 7.65 0 Nucleus;Nucleus;Nucleoplasm NA PE1 11 +NX_P35713 384 40891 8.16 0 Nucleus;Nucleus Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome;Hypotrichosis-lymphedema-telangiectasia syndrome PE1 20 +NX_P35716 441 46679 4.91 0 Nucleus Mental retardation, autosomal dominant 27 PE1 2 +NX_P35749 1972 227339 5.42 0 Melanosome;Cell membrane;Cytosol Aortic aneurysm, familial thoracic 4 PE1 16 +NX_P35754 106 11776 8.33 0 Cytoplasm;Cytosol;Cell membrane NA PE1 5 +NX_P35789 620 70971 9.4 0 Nucleus NA PE1 19 +NX_P35790 457 52249 6.16 0 Endoplasmic reticulum;Cytoplasm NA PE1 11 +NX_P35813 382 42448 5.19 0 Membrane;Nucleus;Cytosol;Cytosol;Cell membrane NA PE1 14 +NX_P35858 605 66035 6.33 0 Extracellular space;Nucleoplasm Acid-labile subunit deficiency PE1 16 +NX_P35869 848 96147 5.94 0 Nucleus;Cytosol;Nucleoplasm;Cytoplasm NA PE1 7 +NX_P35900 424 48487 5.52 0 Cytoplasm;Cytosol NA PE1 17 +NX_P35908 639 65433 8.07 0 Cytoskeleton;Golgi apparatus;Cytosol Ichthyosis bullosa of Siemens PE1 12 +NX_P35913 854 98336 5.11 0 Membrane;Cytosol Night blindness, congenital stationary, autosomal dominant 2;Retinitis pigmentosa 40 PE1 4 +NX_P35914 325 34360 8.81 0 Peroxisome;Mitochondrion matrix 3-hydroxy-3-methylglutaryl-CoA lyase deficiency PE1 1 +NX_P35916 1363 152757 5.9 1 Cell junction;Nucleus speckle;Cell membrane;Cell membrane;Cytoplasm;Nucleus;Secreted Lymphedema, hereditary, 1A;Hemangioma, capillary infantile PE1 5 +NX_P35968 1356 151527 5.6 1 Early endosome;Secreted;Cell membrane;Cell junction;Endoplasmic reticulum;Cell membrane;Cytoplasm;Nucleus;Cytoplasmic vesicle Hemangioma, capillary infantile PE1 4 +NX_P35998 433 48634 5.71 0 Cytosol;Cytosol;Cytoplasm;P-body;Nucleus NA PE1 7 +NX_P36021 539 59511 5.43 12 Cell membrane;Cell membrane Monocarboxylate transporter 8 deficiency PE1 X +NX_P36222 383 42625 8.69 0 Endoplasmic reticulum;Perinuclear region;Cytoplasm;Extracellular space;Cytoplasmic vesicle Schizophrenia;Asthma-related traits 7 PE1 1 +NX_P36268 569 61771 7.22 0 Perinuclear region;Endoplasmic reticulum NA PE1 22 +NX_P36269 586 62261 7.24 1 Nucleolus;Membrane NA PE1 22 +NX_P36382 358 40380 8.81 4 Cell membrane;Gap junction Atrial standstill 1;Atrial fibrillation, familial, 11 PE1 1 +NX_P36383 396 45470 6.9 4 Cytosol;Cell membrane;Gap junction;Nucleolus;Cell junction NA PE1 17 +NX_P36402 384 41642 6.32 0 Nucleoplasm;Nucleus NA PE1 5 +NX_P36404 184 20878 5.95 0 Cytoplasm;Nucleus;Centrosome;Nucleus;Golgi apparatus;Cytosol;Focal adhesion;Nucleolus;Mitochondrion intermembrane space NA PE1 11 +NX_P36405 182 20456 6.74 0 Cell membrane;Cytoplasm;Golgi apparatus membrane;Spindle;Centrosome;Nucleus;Centrosome;Cilium;Nucleus NA PE1 10 +NX_P36406 574 64067 5.93 0 Endomembrane system;Golgi apparatus membrane;Lysosome membrane NA PE1 5 +NX_P36507 400 44424 6.12 0 Cytoplasm;Cytosol;Membrane;Cytoplasm Cardiofaciocutaneous syndrome 4 PE1 19 +NX_P36508 570 61831 5.66 0 Nucleus;Cytosol;Nucleoplasm NA PE1 6 +NX_P36537 528 60774 9.12 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 4 +NX_P36542 298 32996 9.23 0 Cytoplasm;Mitochondrion;Mitochondrion inner membrane NA PE1 10 +NX_P36543 226 26145 7.7 0 Nucleoplasm Cutis laxa, autosomal recessive, 2C PE1 22 +NX_P36544 502 56449 6.02 4 Postsynaptic cell membrane;Cell membrane NA PE1 15 +NX_P36551 454 50152 8.59 0 Mitochondrion intermembrane space;Mitochondrion Hereditary coproporphyria PE1 3 +NX_P36575 388 42778 5.53 0 NA NA PE1 X +NX_P36578 427 47697 11.07 0 Endoplasmic reticulum;Nucleolus;Cytosol;Nucleus NA PE1 15 +NX_P36639 197 22520 5.15 0 Cytosol;Cytoplasm;Mitochondrion matrix;Nucleus NA PE1 7 +NX_P36776 959 106489 6.01 0 Mitochondrion;Mitochondrion matrix;Nucleus CODAS syndrome PE1 19 +NX_P36871 562 61449 6.3 0 Cytoplasm;Cytoskeleton Congenital disorder of glycosylation 1T PE1 1 +NX_P36873 323 36984 6.12 0 Cytoplasm;Kinetochore;Mitochondrion;Midbody;Cleavage furrow;Nucleus speckle;Nucleoplasm;Nucleus;Nucleolus NA PE1 12 +NX_P36888 993 112903 5.48 1 Endoplasmic reticulum lumen;Endoplasmic reticulum;Membrane Leukemia, acute myelogenous PE1 13 +NX_P36894 532 60198 7.71 1 Membrane;Cytosol Juvenile polyposis syndrome;Polyposis syndrome, mixed hereditary 2 PE1 10 +NX_P36896 505 56807 6.6 1 Cell membrane;Cytosol NA PE1 12 +NX_P36897 503 55960 7.51 1 Cell membrane;Cell membrane;Tight junction;Cell surface;Cytoplasmic vesicle;Membrane raft Multiple self-healing squamous epithelioma;Loeys-Dietz syndrome 1 PE1 9 +NX_P36915 607 68661 5.57 0 Cytoplasmic vesicle NA PE1 6 +NX_P36941 435 46709 5.53 1 Membrane;Golgi apparatus NA PE1 12 +NX_P36952 375 42100 5.72 0 Cytoplasmic vesicle;Extracellular space NA PE1 18 +NX_P36954 125 14523 5.04 0 Nucleolus;Nucleoplasm NA PE1 19 +NX_P36955 418 46312 5.97 0 Secreted;Melanosome Osteogenesis imperfecta 6 PE1 17 +NX_P36956 1147 121675 8.43 2 Endoplasmic reticulum membrane;Golgi apparatus;Nucleus;Golgi apparatus membrane;COPII-coated vesicle membrane;Nucleus;Cytosol NA PE1 17 +NX_P36957 453 48755 9.1 0 Mitochondrion NA PE1 14 +NX_P36959 345 37419 6.6 0 NA NA PE1 6 +NX_P36969 197 22175 8.69 0 Cytoplasm;Mitochondrion;Nucleoplasm;Mitochondrion;Cytoplasm Spondylometaphyseal dysplasia, Sedaghatian type PE1 19 +NX_P36980 270 30651 6 0 Secreted NA PE1 1 +NX_P37023 503 56124 7.56 1 Cell membrane Telangiectasia, hereditary hemorrhagic, 2 PE1 12 +NX_P37058 310 34516 8.9 0 Cytoplasmic vesicle;Endoplasmic reticulum Male pseudohermaphrodism with gynecomastia PE1 9 +NX_P37059 387 42785 8.79 1 Endoplasmic reticulum;Membrane NA PE1 16 +NX_P37088 669 75704 7.47 2 Cytoplasm;Cytoplasmic granule;Apical cell membrane;Cilium Pseudohypoaldosteronism 1, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 2 PE1 12 +NX_P37108 136 14570 10.05 0 Cytoplasm;Nucleolus;Nucleus NA PE1 15 +NX_P37173 567 64568 5.6 1 Cell membrane;Cell membrane;Membrane raft Loeys-Dietz syndrome 2;Esophageal cancer;Hereditary non-polyposis colorectal cancer 6 PE1 3 +NX_P37198 522 53255 5.21 0 Nucleus envelope;Spindle pole;Cytoplasmic vesicle;Nucleus membrane;Centrosome;Nuclear pore complex;Nucleus envelope Infantile striatonigral degeneration PE1 19 +NX_P37231 505 57620 5.61 0 Cytoplasmic vesicle;Nucleus;Nucleus;Cytoplasm Obesity;Glioma 1;Lipodystrophy, familial partial, 3 PE1 3 +NX_P37235 193 22313 5.21 0 Membrane NA PE1 2 +NX_P37268 417 48115 6.1 2 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 8 +NX_P37275 1124 124074 4.87 0 Nucleus;Nucleoplasm Corneal dystrophy, Fuchs endothelial, 6;Corneal dystrophy, posterior polymorphous, 3 PE1 10 +NX_P37287 484 54127 8.63 1 Endoplasmic reticulum membrane Paroxysmal nocturnal hemoglobinuria 1;Multiple congenital anomalies-hypotonia-seizures syndrome 2 PE1 X +NX_P37288 418 46800 9.48 7 Cell membrane NA PE1 12 +NX_P37802 199 22391 8.41 0 Cytosol;Cytoskeleton NA PE1 1 +NX_P37837 337 37540 6.36 0 Cytoplasm;Cytosol;Nucleoplasm;Nucleus;Cytoplasm Transaldolase deficiency PE1 11 +NX_P37840 140 14460 4.67 0 Cytosol;Membrane;Secreted;Synapse;Nucleus Parkinson disease 4, autosomal dominant;Parkinson disease 1, autosomal dominant;Dementia Lewy body PE1 4 +NX_P38117 255 27844 8.25 0 Cytoplasm;Mitochondrion matrix;Mitochondrion Glutaric aciduria 2B PE1 19 +NX_P38159 391 42332 10.06 0 Nucleus Mental retardation, X-linked, syndromic, 11 PE1 X +NX_P38398 1863 207721 5.29 0 Nucleus;Chromosome;Cytoplasm Breast-ovarian cancer, familial, 1;Breast cancer;Pancreatic cancer 4;Ovarian cancer PE1 17 +NX_P38405 381 44308 6.23 0 Nucleus;Cytosol Dystonia 25 PE1 18 +NX_P38432 576 62608 9.2 0 Nucleus;Nucleus;Nucleolus;Nucleus;Cajal body NA PE1 17 +NX_P38435 758 87561 8.17 5 Endoplasmic reticulum membrane Combined deficiency of vitamin K-dependent clotting factors 1;Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency PE1 2 +NX_P38484 337 37806 5.27 1 Cell membrane;Golgi apparatus;Cytoplasmic vesicle membrane;Nucleoplasm;Golgi apparatus membrane;Endoplasmic reticulum membrane;Cytoplasm Immunodeficiency 28 PE1 21 +NX_P38567 509 57848 6.62 0 Cell membrane NA PE1 7 +NX_P38570 1179 130159 5.48 1 Membrane NA PE1 17 +NX_P38571 399 45419 6.42 0 Cytoplasmic vesicle;Lysosome Cholesteryl ester storage disease;Wolman disease PE1 10 +NX_P38606 617 68304 5.35 0 Cytoplasmic vesicle;Cytosol;Nucleus Cutis laxa, autosomal recessive, 2D PE1 3 +NX_P38646 679 73680 5.87 0 Mitochondrion;Mitochondrion;Nucleolus Even-plus syndrome;Anemia, sideroblastic, 4 PE1 5 +NX_P38919 411 46871 6.3 0 Nucleoplasm;Cytoplasm;Nucleus speckle;Nucleus Richieri-Costa-Pereira syndrome PE1 17 +NX_P38935 993 109149 9.13 0 Nucleus;Nucleus;Cytoplasm;Axon Charcot-Marie-Tooth disease 2S;Neuronopathy, distal hereditary motor, 6 PE1 11 +NX_P38936 164 18119 8.69 0 Nucleus;Nucleoplasm;Nucleus;Cytoplasm NA PE1 6 +NX_P39019 145 16060 10.31 0 Nucleus Diamond-Blackfan anemia 1 PE1 19 +NX_P39023 403 46109 10.19 0 Nucleolus;Nucleolus;Cytosol;Cytoplasm NA PE1 22 +NX_P39059 1388 141720 4.9 0 Endoplasmic reticulum;Extracellular matrix NA PE1 9 +NX_P39060 1754 178188 5.67 0 Golgi apparatus;Basement membrane;Basement membrane;Extracellular matrix;Secreted;Secreted;Basement membrane Knobloch syndrome 1 PE1 21 +NX_P39086 918 103981 6.65 3 Cell membrane;Postsynaptic cell membrane NA PE1 21 +NX_P39210 176 19733 9.54 4 Mitochondrion inner membrane Mitochondrial DNA depletion syndrome 6 PE1 2 +NX_P39656 456 50801 6.09 1 Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1R PE1 1 +NX_P39687 249 28585 3.99 0 Nucleus;Cytoplasm;Endoplasmic reticulum NA PE1 15 +NX_P39748 380 42593 8.8 0 Nucleolus;Nucleolus;Nucleus;Nucleoplasm;Mitochondrion;Mitochondrion;Cell membrane NA PE1 11 +NX_P39877 138 15674 8.79 0 Secreted Fleck retina, familial benign PE1 1 +NX_P39880 1505 164187 5.72 0 Nucleus NA PE1 7 +NX_P39900 470 54002 8.75 0 Extracellular matrix NA PE1 11 +NX_P39905 211 23720 9.26 0 Cytoplasmic vesicle;Secreted;Nucleoplasm Pheochromocytoma;Hirschsprung disease 3;Congenital central hypoventilation syndrome PE1 5 +NX_P40121 348 38499 5.82 0 Nucleus;Nucleus;Cytoplasm;Secreted;Melanosome NA PE1 2 +NX_P40123 477 52824 5.95 0 Cytosol;Cell membrane;Cell membrane;Nucleoplasm NA PE1 6 +NX_P40126 519 59145 6.73 1 Melanosome;Melanosome membrane NA PE1 13 +NX_P40145 1251 140122 6.53 12 Membrane NA PE1 8 +NX_P40189 918 103537 5.62 1 Golgi apparatus;Cell membrane;Secreted;Cell membrane NA PE1 5 +NX_P40197 560 60959 9.73 1 Membrane NA PE1 3 +NX_P40198 252 27091 6.15 1 Membrane NA PE1 19 +NX_P40199 344 37195 5.56 0 Cell membrane NA PE1 19 +NX_P40200 585 65634 6.71 1 Membrane C syndrome PE1 3 +NX_P40205 109 11733 9.03 0 Cytoplasm;Nucleus NA PE1 2 +NX_P40222 546 61891 6.15 0 Cytoplasm;Cytosol;Nucleoplasm;Centrosome NA PE1 1 +NX_P40225 353 37823 9.54 0 Secreted Thrombocythemia 1 PE1 3 +NX_P40227 531 58024 6.24 0 Cytoplasm;Cytoplasm NA PE1 7 +NX_P40238 635 71245 6.03 1 Cell membrane;Golgi apparatus;Cell surface;Cell membrane Myelofibrosis with myeloid metaplasia;Congenital amegakaryocytic thrombocytopenia;Thrombocythemia 2 PE1 1 +NX_P40259 229 26048 5.67 1 Nucleoplasm;Cell membrane;Cell membrane;Cytosol Agammaglobulinemia 6, autosomal recessive PE1 17 +NX_P40261 264 29574 5.56 0 Golgi apparatus;Cytoplasm NA PE1 11 +NX_P40305 119 11268 11.07 3 Endosome;Mitochondrion;Membrane NA PE1 14 +NX_P40306 273 28936 7.69 0 Cytosol;Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 16 +NX_P40313 264 28002 8.56 0 Nucleoplasm NA PE1 16 +NX_P40337 213 24153 4.7 0 Cytoplasm;Nucleus;Nucleoplasm;Cytosol;Membrane Pheochromocytoma;von Hippel-Lindau disease;Erythrocytosis, familial, 2;Renal cell carcinoma PE1 3 +NX_P40394 386 41481 8.12 0 Cytosol;Cell membrane;Cytoplasm NA PE1 4 +NX_P40424 430 46626 6.54 0 Nucleus Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay PE1 1 +NX_P40425 430 45881 7.18 0 Nucleus;Nucleoplasm NA PE1 6 +NX_P40426 434 47190 6.57 0 Cytoplasm;Nucleus;Nucleus NA PE1 9 +NX_P40429 203 23577 10.94 0 Cytoplasm NA PE1 19 +NX_P40616 181 20418 5.63 0 Golgi apparatus;Golgi apparatus;Golgi apparatus membrane;Membrane NA PE1 12 +NX_P40617 200 22615 9.26 0 Nucleoplasm;Cell membrane;Cytoplasm;Cytosol;Nucleolus NA PE1 7 +NX_P40692 756 84601 5.51 0 Nucleoplasm;Nucleus Endometrial cancer;Mismatch repair cancer syndrome;Hereditary non-polyposis colorectal cancer 2;Muir-Torre syndrome;Colorectal cancer PE1 3 +NX_P40763 770 88068 5.94 0 Cytoplasm;Nucleoplasm;Nucleus;Cytoplasm;Cytosol Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant;Autoimmune disease, multisystem, infantile-onset, 1 PE1 17 +NX_P40818 1118 127523 8.7 0 Golgi apparatus;Cytosol;Cytoplasm;Nucleus;Endosome membrane;Cell membrane NA PE1 15 +NX_P40855 299 32807 4.26 0 Peroxisome;Cytoplasm;Peroxisome membrane Peroxisome biogenesis disorder complementation group 14;Peroxisome biogenesis disorder 12A PE1 1 +NX_P40879 764 84505 8.87 10 Apical cell membrane;Membrane Diarrhea 1, secretory chloride, congenital PE1 7 +NX_P40925 334 36426 6.91 0 Cytoplasm;Cytoplasm;Centrosome;Cytosol NA PE1 2 +NX_P40926 338 35503 8.92 0 Mitochondrion;Mitochondrion matrix Epileptic encephalopathy, early infantile, 51 PE1 7 +NX_P40933 162 18086 5.13 0 Nucleus speckle;Nucleoplasm;Cytoplasm;Nucleus;Secreted NA PE1 4 +NX_P40937 340 38497 6.72 0 Nucleoplasm;Nucleus NA PE1 12 +NX_P40938 356 40556 8.66 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA PE1 13 +NX_P40939 763 83000 9.16 0 Mitochondrion;Mitochondrion Mitochondrial trifunctional protein deficiency;Maternal acute fatty liver of pregnancy;Long-chain 3-hydroxyl-CoA dehydrogenase deficiency PE1 2 +NX_P40967 661 70255 5.37 1 Endoplasmic reticulum membrane;Golgi apparatus;Melanosome;Multivesicular body;Secreted NA PE1 12 +NX_P41002 786 87640 5.92 0 Nucleus;Centriole;Centrosome NA PE1 16 +NX_P41091 472 51109 8.66 0 NA Mental retardation, X-linked, syndromic, Borck type PE1 X +NX_P41134 155 16133 6.57 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Nucleus NA PE1 20 +NX_P41143 372 40369 9.21 7 Cell membrane NA PE1 1 +NX_P41145 380 42645 7.92 7 Cell membrane NA PE1 8 +NX_P41146 370 40693 8.74 7 Cell membrane;Cytoplasmic vesicle NA PE1 20 +NX_P41159 167 18641 5.88 0 Secreted Leptin deficiency PE1 7 +NX_P41161 510 57838 5.43 0 Nucleoplasm;Nucleus NA PE1 3 +NX_P41162 512 57001 8.73 0 Nucleus;Nucleus NA PE1 1 +NX_P41180 1078 120675 5.62 7 Cell membrane Hyperparathyroidism, neonatal severe;Epilepsy, idiopathic generalized 8;Hypocalciuric hypercalcemia, familial 1;Hypocalcemia, autosomal dominant 1 PE1 3 +NX_P41181 271 28837 6.44 6 Apical cell membrane;Basolateral cell membrane;Cytoplasmic vesicle membrane;trans-Golgi network membrane Diabetes insipidus, nephrogenic, autosomal PE1 12 +NX_P41182 706 78846 8.28 0 Golgi apparatus;Nucleoplasm;Nucleus NA PE1 3 +NX_P41208 172 19738 4.91 0 Nucleus;Cytoplasm;Centriole;Nucleus NA PE1 X +NX_P41212 452 53000 6.95 0 Nucleus;Nucleolus;Cytosol Myeloproliferative disorder chronic with eosinophilia;Thrombocytopenia 5;Leukemia, acute myelogenous PE1 12 +NX_P41214 584 64706 7.56 0 Cytosol;Cytoplasm;Nucleus NA PE1 1 +NX_P41217 278 31264 8.78 1 Cell membrane NA PE1 3 +NX_P41218 407 45836 9.76 0 Nucleus;Cytoplasm;Nucleoplasm;Nucleolus NA PE1 1 +NX_P41219 470 53651 5.37 0 NA NA PE1 12 +NX_P41220 211 24382 9.05 0 Cytosol;Nucleolus;Cytoplasm;Cell membrane;Mitochondrion NA PE1 1 +NX_P41221 380 42339 8.83 0 Extracellular matrix Robinow syndrome, autosomal dominant 1 PE1 3 +NX_P41222 190 21029 7.66 0 Nucleus membrane;Rough endoplasmic reticulum;Secreted;Perinuclear region;Golgi apparatus NA PE1 9 +NX_P41223 144 17000 9.1 0 Cytoskeleton;Nucleus;Centrosome;Nucleus NA PE1 7 +NX_P41225 446 45210 9.78 0 Nucleoplasm;Nucleus Panhypopituitarism X-linked;Mental retardation, X-linked, with isolated growth hormone deficiency;46,XX sex reversal 3 PE1 X +NX_P41226 1012 111694 5.64 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol NA PE1 3 +NX_P41227 235 26459 5.41 0 Nucleus;Cytoplasm;Cytosol;Cytoplasm;Nucleolus;Nucleus Microphthalmia, syndromic, 1;N-terminal acetyltransferase deficiency PE1 X +NX_P41229 1560 175720 5.44 0 Cytosol;Nucleoplasm;Nucleus Mental retardation, X-linked, syndromic, Claes-Jensen type PE1 X +NX_P41231 377 42273 9.72 7 Cell membrane;Cytosol NA PE1 11 +NX_P41235 474 52785 7.15 0 Nucleoplasm;Nucleus Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young;Maturity-onset diabetes of the young 1;Diabetes mellitus, non-insulin-dependent PE1 20 +NX_P41236 205 23015 4.64 0 Cytoplasm;Nucleus NA PE1 3 +NX_P41238 236 28192 9.06 0 Cytoplasm NA PE1 12 +NX_P41240 450 50704 6.62 0 Cytoplasmic vesicle;Cytosol;Cytoplasm;Cell membrane NA PE1 15 +NX_P41247 253 27980 9.21 0 Mitochondrion NA PE1 X +NX_P41250 739 83166 6.61 0 Cytoplasm;Cytosol;Cytoplasm;Axon;Exosome;Secreted Charcot-Marie-Tooth disease 2D;Neuronopathy, distal hereditary motor, 5A PE1 7 +NX_P41252 1262 144498 5.82 0 Cytosol;Cytosol;Cytoplasm Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy PE1 9 +NX_P41271 181 19408 5.15 0 Secreted NA PE1 1 +NX_P41273 254 26625 6.52 1 Golgi apparatus;Membrane NA PE1 19 +NX_P41279 467 52925 5.54 0 Cytosol;Cytoplasm NA PE1 10 +NX_P41439 243 27638 8.12 0 Secreted NA PE1 11 +NX_P41440 591 64868 9.15 12 Membrane;Cell membrane NA PE1 21 +NX_P41567 113 12732 6.9 0 NA NA PE1 17 +NX_P41586 468 53314 5.5 7 Cytoplasmic vesicle;Cell membrane NA PE1 7 +NX_P41587 438 49479 8.29 7 Cell membrane NA PE1 7 +NX_P41594 1212 132469 8.07 7 Cell membrane NA PE1 11 +NX_P41595 481 54298 9.22 7 Nucleoplasm;Cell membrane;Synaptosome NA PE1 2 +NX_P41597 374 41915 9.24 7 Cell membrane NA PE1 3 +NX_P41732 249 27574 6.86 4 Membrane Mental retardation, X-linked 58 PE1 X +NX_P41743 596 68262 5.54 0 Cytosol;Cytoplasm;Membrane;Endosome;Nucleus;Cytoskeleton;Cytoskeleton NA PE1 3 +NX_P41968 323 36043 6.34 7 Cell membrane NA PE1 20 +NX_P41970 407 44240 9.04 0 Mitochondrion;Nucleus;Nucleoplasm NA PE1 12 +NX_P42025 376 42293 5.98 0 Cytoplasm;Cytoskeleton;Centrosome NA PE1 2 +NX_P42081 329 37682 6.46 1 Cell membrane NA PE1 3 +NX_P42126 302 32816 8.8 0 Mitochondrion matrix NA PE1 16 +NX_P42127 132 14515 9.78 0 Cytoplasmic vesicle;Secreted NA PE1 20 +NX_P42166 694 75492 7.56 0 Nucleus membrane;Nucleus;Nucleus;Chromosome NA PE1 12 +NX_P42167 454 50670 9.39 1 Cytoplasm;Nucleus inner membrane NA PE1 12 +NX_P42224 750 87335 5.74 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus Immunodeficiency 31B;Immunodeficiency 31A;Immunodeficiency 31C PE1 2 +NX_P42226 847 94135 5.84 0 Cytosol;Cytoplasm;Nucleoplasm;Nucleus NA PE1 12 +NX_P42229 794 90647 5.98 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA PE1 17 +NX_P42261 906 101506 7.79 3 Postsynaptic density;Early endosome membrane;Cell membrane;Endoplasmic reticulum membrane;Postsynaptic cell membrane;Dendrite;Dendritic spine;Recycling endosome membrane NA PE1 5 +NX_P42262 883 98821 7.48 3 Cell membrane;Endoplasmic reticulum membrane;Postsynaptic cell membrane NA PE1 4 +NX_P42263 894 101157 8.72 3 Cell membrane;Postsynaptic cell membrane Mental retardation, X-linked 94 PE1 X +NX_P42285 1042 117805 6.12 0 Nucleus;Nucleoplasm;Nucleus;Nucleolus;Nucleus NA PE1 5 +NX_P42330 323 36853 8.06 0 Nucleus;Cytoplasm;Cytoplasm NA PE1 10 +NX_P42331 645 73435 6.04 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 2 +NX_P42336 1068 124284 6.88 0 Cytosol Keratosis, seborrheic;Megalencephaly-capillary malformation-polymicrogyria syndrome;Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi;Ovarian cancer;Colorectal cancer;Hepatocellular carcinoma;Breast cancer;Cowden syndrome 5 PE1 3 +NX_P42338 1070 122762 6.69 0 Nucleolus;Midbody;Cytoplasm;Nucleus;Nucleoplasm NA PE1 3 +NX_P42345 2549 288892 6.73 0 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus membrane;Mitochondrion outer membrane;Lysosome;Cytoplasm;PML body;Microsome membrane;Cytosol Focal cortical dysplasia 2;Smith-Kingsmore syndrome PE1 1 +NX_P42356 2102 236830 6.64 0 Cytoplasm;Cell membrane Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis PE1 22 +NX_P42357 657 72698 6.49 0 Cytosol Histidinemia PE1 12 +NX_P42566 896 98656 4.52 0 Cytoplasmic vesicle;Early endosome membrane;Clathrin-coated pit;Cytosol;Cell membrane;Cytoplasm NA PE1 1 +NX_P42568 568 63351 8.77 0 Cytosol;Nucleoplasm;Nucleus;Chromosome NA PE1 9 +NX_P42574 277 31608 6.09 0 Cytoplasm;Nucleoplasm;Mitochondrion NA PE1 4 +NX_P42575 452 50685 6.35 0 Nucleoplasm NA PE1 7 +NX_P42658 865 97588 5.95 1 Cell membrane Mental retardation, autosomal dominant 33;Familial paroxysmal ventricular fibrillation 2 PE1 7 +NX_P42677 84 9461 9.57 0 NA Diamond-Blackfan anemia 17 PE1 1 +NX_P42679 507 56469 9.01 0 Membrane;Cytoplasm NA PE1 19 +NX_P42680 631 73581 8.69 0 Cell membrane;Cell membrane;Cytoplasm;Cytoskeleton NA PE1 4 +NX_P42681 527 61258 8.23 0 Cytoplasm;Nucleus;Cytoplasmic vesicle;Cell membrane NA PE1 4 +NX_P42684 1182 128343 8.31 0 Cytoskeleton;Nucleoplasm NA PE1 1 +NX_P42685 505 58254 6.22 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA PE1 6 +NX_P42694 1942 218970 7.04 0 Nucleolus;Nucleus;Cell membrane;Cytoskeleton NA PE1 17 +NX_P42695 1498 168891 7.38 0 Nucleus;Nucleoplasm NA PE1 11 +NX_P42696 430 48565 10.11 0 Nucleus;Nucleolus;Nucleolus NA PE1 1 +NX_P42701 662 73109 5.28 1 Membrane;Cell membrane Immunodeficiency 30 PE1 19 +NX_P42702 1097 123743 5.5 1 Golgi apparatus;Nucleus speckle;Cell membrane Stueve-Wiedemann syndrome PE1 5 +NX_P42704 1394 157905 5.81 0 Mitochondrion;Nucleus inner membrane;Nucleus outer membrane;Mitochondrion;Nucleoplasm Leigh syndrome French-Canadian type PE1 2 +NX_P42765 397 41924 8.32 0 Mitochondrion;Mitochondrion NA PE1 18 +NX_P42766 123 14551 11.04 0 Nucleolus;Cytoplasm;Endoplasmic reticulum;Cytosol NA PE1 9 +NX_P42768 502 52913 6.18 0 Cytoskeleton Neutropenia, severe congenital, X-linked;Thrombocytopenia 1;Wiskott-Aldrich syndrome PE1 X +NX_P42771 156 16533 5.52 0 Nucleus;Cytoplasm Melanoma-astrocytoma syndrome;Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome;Melanoma, cutaneous malignant 2 PE1 9 +NX_P42772 138 14722 6.08 0 Cytoplasm;Nucleoplasm NA PE1 9 +NX_P42773 168 18127 6.05 0 Cytosol;Nucleoplasm NA PE1 1 +NX_P42785 496 55800 6.76 0 Lysosome NA PE1 11 +NX_P42830 114 11972 9.17 0 Secreted NA PE1 4 +NX_P42857 185 20913 5.6 1 Mitochondrion;Golgi apparatus membrane NA PE1 4 +NX_P42858 3142 347603 5.81 0 Cytoplasm;Nucleus;Nucleoplasm;Cytosol Huntington disease;Lopes-Maciel-Rodan syndrome PE1 4 +NX_P42892 770 87164 5.61 1 Cell membrane Hirschsprung disease, cardiac defects, and autonomic dysfunction PE1 1 +NX_P42898 656 74597 5.22 0 Cell junction Methylenetetrahydrofolate reductase deficiency;Ischemic stroke;Neural tube defects, folate-sensitive;Schizophrenia PE1 1 +NX_P43003 542 59572 8.52 8 Nucleolus;Mitochondrion;Cell membrane Episodic ataxia 6 PE1 5 +NX_P43004 574 62104 6.09 8 Cell membrane Epileptic encephalopathy, early infantile, 41 PE1 11 +NX_P43005 524 57100 5.56 8 Cell membrane;Apical cell membrane Schizophrenia 18;Dicarboxylic aminoaciduria PE1 9 +NX_P43007 532 55723 5.88 9 Microtubule organizing center;Centrosome;Membrane;Melanosome Spastic tetraplegia, thin corpus callosum, and progressive microcephaly PE1 2 +NX_P43026 501 55411 9.82 0 Secreted;Cell membrane Du Pan syndrome;Osteoarthritis 5;Symphalangism, proximal 1B;Brachydactyly A1, C;Acromesomelic chondrodysplasia, Hunter-Thompson type;Acromesomelic chondrodysplasia, Grebe type;Brachydactyly C;Multiple synostoses syndrome 2;Brachydactyly A2 PE1 20 +NX_P43034 410 46638 6.97 0 Centrosome;Spindle;Nucleus membrane;Centrosome;Cytoskeleton Miller-Dieker lissencephaly syndrome;Lissencephaly 1;Subcortical band heterotopia PE1 17 +NX_P43080 201 22920 4.34 0 Membrane;Cell membrane Cone dystrophy 3 PE1 6 +NX_P43088 359 40055 9.19 7 Cell membrane NA PE1 1 +NX_P43115 390 43310 9.73 7 Cell membrane NA PE1 1 +NX_P43116 358 39761 9.37 7 Cell membrane NA PE1 14 +NX_P43119 386 40956 8.9 7 Cell membrane NA PE1 19 +NX_P43121 646 71607 5.58 1 Membrane;Cell membrane NA PE1 11 +NX_P43146 1447 158457 6.32 1 Golgi apparatus;Membrane Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2 PE1 18 +NX_P43155 626 70858 8.63 0 Endoplasmic reticulum;Peroxisome;Mitochondrion inner membrane;Mitochondrion;Nucleoplasm;Nucleus membrane NA PE1 9 +NX_P43166 264 29658 6.92 0 Cytoplasm NA PE1 16 +NX_P43220 463 53026 8.49 7 Cell membrane NA PE1 6 +NX_P43234 321 35958 7.06 0 Lysosome NA PE1 4 +NX_P43235 329 36966 8.72 0 Cytoplasmic vesicle;Lysosome Pycnodysostosis PE1 1 +NX_P43243 847 94623 5.87 0 Nucleoplasm;Nucleus matrix Amyotrophic lateral sclerosis 21 PE1 5 +NX_P43246 934 104743 5.58 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle Mismatch repair cancer syndrome;Hereditary non-polyposis colorectal cancer 1;Muir-Torre syndrome;Endometrial cancer;Colorectal cancer PE1 2 +NX_P43250 576 65991 8.32 0 Mitochondrion;Membrane NA PE1 5 +NX_P43251 543 61133 5.81 0 Extracellular space Biotinidase deficiency PE1 3 +NX_P43268 484 53938 5.31 0 Nucleolus;Nucleus NA PE1 17 +NX_P43304 727 80853 7.58 0 Mitochondrion NA PE1 2 +NX_P43307 286 32235 4.39 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 6 +NX_P43308 183 20135 7.94 1 Endoplasmic reticulum membrane NA PE1 1 +NX_P43320 205 23380 6.5 0 Nucleoplasm Cataract 3, multiple types PE1 22 +NX_P43351 418 46169 8.49 0 Cell membrane;Nucleus speckle;Nucleus NA PE1 12 +NX_P43353 468 51840 7.55 0 Cell membrane;Cell membrane NA PE1 11 +NX_P43354 598 66591 8.19 0 Nucleus speckle;Cytoplasm;Nucleus NA PE1 2 +NX_P43355 309 34342 4.83 0 Cytosol;Cytoplasm;Nucleus NA PE1 X +NX_P43356 314 35055 4.7 0 Nucleus;PML body NA PE1 X +NX_P43357 314 34747 4.57 0 NA NA PE1 X +NX_P43358 317 34899 4.68 0 Cytosol;Nucleus speckle NA PE1 X +NX_P43359 124 13016 4.63 0 NA NA PE2 X +NX_P43360 314 34891 4.57 0 NA NA PE1 X +NX_P43361 318 35215 4.71 0 NA NA PE1 X +NX_P43362 315 35088 4.49 0 Golgi apparatus NA PE1 X +NX_P43363 369 40780 4.32 0 Nucleus;Nucleoplasm;Cytosol NA PE1 X +NX_P43364 429 48129 4.69 0 Nucleus;Cytoplasm;Nucleoplasm;Cytosol;Nucleus NA PE1 X +NX_P43365 314 34836 4.71 0 NA NA PE1 X +NX_P43366 347 39037 8.56 0 NA NA PE1 X +NX_P43378 593 68020 8.19 0 Cytoplasmic vesicle;Cytoplasm NA PE1 15 +NX_P43403 619 69872 7.78 0 Cytoplasm;Cell membrane Autoimmune disease, multisystem, infantile-onset, 2;Immunodeficiency 48 PE1 2 +NX_P43405 635 72066 8.43 0 Cytosol;Cytoplasmic vesicle;Cell membrane;Cytosol;Cell membrane NA PE1 9 +NX_P43487 201 23310 5.19 0 Cytoplasm;Cytosol NA PE1 22 +NX_P43489 277 29341 8.68 1 Membrane Immunodeficiency 16 PE1 1 +NX_P43490 491 55521 6.69 0 Nucleus speckle;Cell junction;Cytoplasm;Secreted;Nucleus NA PE1 7 +NX_P43626 348 38505 6.34 1 Cell membrane NA PE1 19 +NX_P43627 348 38472 6.46 1 Cell membrane NA PE1 19 +NX_P43628 341 37886 6.23 1 Cell membrane NA PE1 19 +NX_P43629 444 49098 9.02 1 Cell membrane NA PE1 19 +NX_P43630 455 50230 8.78 1 Cell membrane NA PE1 19 +NX_P43631 304 33502 6.13 1 Cell membrane NA PE1 19 +NX_P43632 304 33583 5.98 1 Cell membrane NA PE1 19 +NX_P43652 599 69069 5.64 0 Secreted NA PE1 4 +NX_P43657 344 39392 9.22 7 Cell membrane;Cell membrane;Cytoplasmic vesicle Hypotrichosis 8;Woolly hair autosomal recessive 1 with or without hypotrichosis PE1 13 +NX_P43681 627 69957 6.81 4 Postsynaptic cell membrane;Cell membrane;Cell membrane Epilepsy, nocturnal frontal lobe, 1 PE1 20 +NX_P43686 418 47366 5.09 0 Nucleus;Cytoplasm;Cytoplasm;Nucleus;Nucleus;Cytosol NA PE1 19 +NX_P43694 442 44565 9.39 0 Nucleus;Nucleus Atrioventricular septal defect 4;Tetralogy of Fallot;Testicular anomalies with or without congenital heart disease;Atrial septal defect 2;Ventricular septal defect 1 PE1 8 +NX_P43699 371 38596 9.72 0 Golgi apparatus;Cytoplasmic vesicle;Nucleus Thyroid cancer, non-medullary, 1;Chorea, hereditary benign;Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction PE1 14 +NX_P43897 325 35391 8.62 0 Nucleus;Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 3 PE1 12 +NX_P45378 269 31825 5.71 0 NA Arthrogryposis, distal, 2B PE1 11 +NX_P45379 298 35924 4.94 0 Focal adhesion;Nucleolus;Nucleus Cardiomyopathy, dilated 1D;Cardiomyopathy, familial hypertrophic 2;Cardiomyopathy, familial restrictive 3 PE1 1 +NX_P45381 313 35735 6.06 0 Nucleus;Cytoplasm;Cytosol Canavan disease PE1 17 +NX_P45452 471 53820 5.32 0 Secreted;Extracellular matrix Metaphyseal dysplasia, Spahr type;Metaphyseal anadysplasia 1;Spondyloepimetaphyseal dysplasia Missouri type PE1 11 +NX_P45844 678 75592 8.02 6 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cytoplasmic vesicle;Golgi apparatus NA PE1 21 +NX_P45877 212 22763 8.48 0 Cytoplasm NA PE1 5 +NX_P45880 294 31567 7.5 0 Mitochondrion outer membrane;Mitochondrion NA PE1 10 +NX_P45954 432 47485 6.53 0 Mitochondrion matrix;Mitochondrion Short/branched-chain acyl-CoA dehydrogenase deficiency PE1 10 +NX_P45973 191 22225 5.71 0 Nucleus;Nucleus;Centromere;Nucleus;Chromosome NA PE1 12 +NX_P45974 858 95786 4.91 0 Cytosol;Nucleoplasm NA PE1 12 +NX_P45983 427 48296 6.43 0 Nucleus;Cytoplasm NA PE1 10 +NX_P45984 424 48139 5.41 0 Cytoplasm;Nucleus NA PE1 5 +NX_P45985 399 44288 8.28 0 Nucleoplasm;Cell junction;Cytoplasm;Nucleus NA PE1 17 +NX_P46013 3256 358694 9.49 0 Nucleolus;Nucleus;Nucleolus;Nucleus;Chromosome;Nucleus;Nucleolus NA PE1 10 +NX_P46019 1235 138408 5.99 0 Nucleoplasm;Cell membrane Glycogen storage disease 9A PE1 X +NX_P46020 1223 137312 5.8 0 Cytoplasmic vesicle;Cell membrane Glycogen storage disease 9D PE1 X +NX_P46059 708 78806 8.72 12 Cytosol;Nucleoplasm;Membrane NA PE1 13 +NX_P46060 587 63542 4.63 0 Cytoplasmic vesicle;Spindle pole;Kinetochore;Nucleus membrane;Cytoplasm;Cytosol;Nucleus membrane NA PE1 22 +NX_P46063 649 73457 8.13 0 Nucleoplasm;Nucleus NA PE1 12 +NX_P46087 812 89302 9.27 0 Nucleus;Nucleolus;Nucleolus;Nucleolus NA PE1 12 +NX_P46089 330 35010 8.4 7 Cell membrane NA PE1 1 +NX_P46091 355 41431 6.98 7 Cell membrane;Cytoplasmic vesicle;Cell membrane NA PE1 2 +NX_P46092 362 38416 9.85 7 Endoplasmic reticulum;Cell membrane NA PE1 17 +NX_P46093 362 40982 8.82 7 Cell membrane NA PE2 19 +NX_P46094 333 38508 8.94 7 Cell membrane NA PE1 3 +NX_P46095 362 37881 7.61 7 Cell membrane NA PE1 6 +NX_P46098 478 55280 7.04 4 Postsynaptic cell membrane;Cell membrane NA PE1 11 +NX_P46100 2492 282586 6.2 0 Nucleus;Nucleus;Telomere;PML body Mental retardation, X-linked, syndromic, with hypotonic facies 1;Alpha-thalassemia myelodysplasia syndrome;Alpha-thalassemia mental retardation syndrome, X-linked PE1 X +NX_P46108 304 33831 5.38 0 Cell membrane;Cytoplasm;Cell membrane NA PE1 17 +NX_P46109 303 33777 6.26 0 Cell membrane;Cytosol;Nucleoplasm NA PE1 22 +NX_P46199 727 81317 6.71 0 Mitochondrion;Mitochondrion NA PE1 2 +NX_P46379 1132 119409 5.4 0 Cytosol;Nucleoplasm;Cytosol;Nucleus;Exosome NA PE1 6 +NX_P46439 218 25675 6.91 0 Cytoplasm NA PE1 1 +NX_P46459 744 82594 6.52 0 Cytosol;Cytoplasm NA PE1 17 +NX_P46527 198 22073 6.54 0 Cytoplasmic vesicle;Nucleus;Endosome;Nucleus;Cytoplasm Multiple endocrine neoplasia 4 PE1 12 +NX_P46531 2555 272505 4.95 1 Nucleoplasm;Cell membrane;Nucleus Adams-Oliver syndrome 5;Aortic valve disease 1 PE1 9 +NX_P46597 345 38453 5.05 0 NA NA PE1 X +NX_P46663 353 40495 9.5 7 Cell membrane NA PE1 14 +NX_P46695 156 16903 8.61 1 Membrane NA PE1 6 +NX_P46721 670 74145 5.69 12 Cell membrane;Cell membrane NA PE2 12 +NX_P46734 347 39318 7.05 0 Nucleoplasm;Cytosol NA PE1 17 +NX_P46736 316 36072 5.59 0 Nucleus;Cytoplasm;Nucleoplasm;Cytoplasm;Nucleus;Spindle pole NA PE1 X +NX_P46776 148 16561 11 0 Nucleolus;Nucleus;Cytosol;Endoplasmic reticulum NA PE1 11 +NX_P46777 297 34363 9.73 0 Nucleolus;Cytoplasm Diamond-Blackfan anemia 6 PE1 1 +NX_P46778 160 18565 10.49 0 Cytosol;Endoplasmic reticulum;Nucleolus Hypotrichosis 12 PE1 13 +NX_P46779 137 15748 12.02 0 Cytosol;Endoplasmic reticulum NA PE1 19 +NX_P46781 194 22591 10.66 0 Cytoplasm NA PE1 19 +NX_P46782 204 22876 9.73 0 Endoplasmic reticulum;Cytosol NA PE1 19 +NX_P46783 165 18898 10.15 0 Cytoplasm;Nucleolus Diamond-Blackfan anemia 9 PE1 6 +NX_P46821 2468 270634 4.73 0 Cytosol;Dendritic spine;Cytoskeleton;Cytoplasm;Synapse NA PE1 5 +NX_P46926 289 32669 6.42 0 Cytoplasm NA PE1 5 +NX_P46934 1319 149114 6.15 0 Cytosol;Cell membrane;Cytoplasm NA PE1 15 +NX_P46937 504 54462 5 0 Cytoplasm;Cytoplasm;Nucleus;Nucleolus;Nucleus Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation PE1 11 +NX_P46939 3433 394466 5.2 0 Cell membrane;Nucleoplasm;Postsynaptic cell membrane;Cytoskeleton NA PE1 6 +NX_P46940 1657 189252 6.08 0 Cell junction;Cell membrane;Cell membrane NA PE1 15 +NX_P46952 286 32556 5.62 0 Cytoplasm NA PE1 2 +NX_P46976 350 39384 5.27 0 Cytoplasmic vesicle Polyglucosan body myopathy 2;Glycogen storage disease 15 PE1 3 +NX_P46977 705 80530 8.28 11 Endoplasmic reticulum;Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum membrane;Nucleoplasm Congenital disorder of glycosylation 1W PE1 11 +NX_P47211 349 38953 9.55 7 Cell membrane NA PE1 18 +NX_P47224 123 13839 5.37 0 NA NA PE1 1 +NX_P47710 185 21671 5.32 0 Secreted NA PE1 4 +NX_P47712 749 85239 5.22 0 Cytosol;Cytoplasm;Cytoplasmic vesicle NA PE1 1 +NX_P47736 663 73361 5.55 0 Golgi apparatus membrane NA PE1 1 +NX_P47755 286 32949 5.57 0 Cytoplasm;Cytosol;Endoplasmic reticulum NA PE1 7 +NX_P47756 277 31350 5.36 0 Cytoplasm;Cytosol;Sarcomere;Cytoskeleton;Cytoplasmic vesicle;Nucleoplasm NA PE1 1 +NX_P47775 334 36730 6.63 7 Cell membrane NA PE1 13 +NX_P47804 291 31874 8.35 7 Membrane Retinitis pigmentosa 44 PE1 10 +NX_P47813 144 16460 5.07 0 Cytoplasm NA PE1 X +NX_P47869 451 51326 9.17 4 Cytoplasmic vesicle membrane;Cell membrane;Postsynaptic cell membrane NA PE1 4 +NX_P47870 512 59150 9.39 4 Postsynaptic cell membrane;Cytoplasmic vesicle membrane;Cell membrane NA PE1 5 +NX_P47871 477 54009 9.01 7 Cell membrane;Golgi apparatus NA PE1 17 +NX_P47872 440 50207 7.88 7 Cell membrane NA PE1 2 +NX_P47874 163 18937 5.33 0 Cytoplasm NA PE1 11 +NX_P47881 315 34609 9.27 7 Cell membrane NA PE2 17 +NX_P47883 348 37194 6.47 7 Cell membrane NA PE5 17 +NX_P47884 311 35227 8.29 7 Cell membrane NA PE1 17 +NX_P47887 323 36391 7.9 7 Cell membrane NA PE2 17 +NX_P47888 321 34963 7.01 7 Cell membrane NA PE2 17 +NX_P47890 313 34924 6.53 7 Cell membrane NA PE2 17 +NX_P47893 321 35207 7.56 7 Cell membrane NA PE2 17 +NX_P47895 512 56108 6.99 0 Cytosol;Nucleus;Cytoplasm Microphthalmia, isolated, 8 PE1 15 +NX_P47897 775 87799 6.71 0 Cytosol;Cytoplasm;Cytosol Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PE1 3 +NX_P47898 357 40255 9 7 Cell membrane NA PE2 7 +NX_P47900 373 42072 9.45 7 Cell membrane NA PE1 3 +NX_P47901 424 46971 9.21 7 Cell membrane NA PE2 1 +NX_P47902 265 28138 9.58 0 Nucleus NA PE1 5 +NX_P47914 159 17752 11.66 0 Nucleolus;Nucleolus;Endoplasmic reticulum;Cytoplasm;Nucleus;Cytosol NA PE1 3 +NX_P47928 161 16622 8.69 0 Nucleus;Nucleus NA PE1 6 +NX_P47929 136 15075 7.02 0 Cytoplasm;Nucleus;Secreted NA PE1 19 +NX_P47944 62 6509 8.26 0 NA NA PE2 16 +NX_P47972 431 47042 5.45 0 Secreted NA PE1 7 +NX_P47974 494 51063 8.52 0 Nucleus;Cytoplasm NA PE1 2 +NX_P47985 274 29668 8.55 1 Cytoplasm;Mitochondrion inner membrane NA PE1 19 +NX_P47989 1333 146424 7.86 0 Nucleus;Cytoplasm;Secreted;Peroxisome Xanthinuria 1 PE1 2 +NX_P47992 114 12517 10.22 0 Secreted NA PE1 1 +NX_P48023 281 31485 9.41 1 Cell membrane;Cytoplasmic vesicle lumen;Lysosome lumen;Secreted;Nucleus Autoimmune lymphoproliferative syndrome 1B PE1 1 +NX_P48029 635 70523 6.02 12 Membrane Cerebral creatine deficiency syndrome 1 PE1 X +NX_P48039 350 39375 9.55 7 Cell membrane NA PE1 4 +NX_P48047 213 23277 9.97 0 Mitochondrion;Mitochondrion;Mitochondrion inner membrane NA PE1 21 +NX_P48048 391 44795 9.03 2 Cell membrane Bartter syndrome 2, antenatal PE1 11 +NX_P48050 445 49500 5.82 2 Postsynaptic cell membrane;Cytoplasmic vesicle membrane;Cell membrane NA PE1 22 +NX_P48051 423 48451 5.24 2 Membrane Keppen-Lubinsky syndrome PE1 21 +NX_P48052 419 47030 5.68 0 Secreted NA PE1 7 +NX_P48058 902 100871 8.32 3 Cell membrane;Postsynaptic cell membrane;Dendrite NA PE1 11 +NX_P48059 325 37251 8.43 0 Focal adhesion;Cell membrane NA PE1 2 +NX_P48060 266 30366 8.8 1 Membrane NA PE1 12 +NX_P48061 93 10666 9.92 0 Secreted NA PE1 10 +NX_P48065 614 69368 5.96 12 Membrane;Golgi apparatus NA PE1 12 +NX_P48066 632 70606 6.52 12 Membrane NA PE1 3 +NX_P48067 706 78260 8.21 12 Golgi apparatus;Nucleus;Membrane Glycine encephalopathy with normal serum glycine PE1 1 +NX_P48145 328 36103 9.05 7 Cell membrane NA PE1 8 +NX_P48146 333 36861 9.35 7 Cell membrane NA PE1 20 +NX_P48147 710 80700 5.53 0 Cytoplasm;Cytosol NA PE1 6 +NX_P48163 572 64150 5.79 0 Cytosol;Nucleoplasm;Cytoplasm;Cell membrane NA PE1 6 +NX_P48165 433 48229 5.21 4 Cell membrane;Gap junction Cataract 1, multiple types PE1 1 +NX_P48167 497 56122 9.03 4 Postsynaptic cell membrane;Synapse;Dendrite;Cell membrane;Cytoplasm Hyperekplexia 2 PE1 4 +NX_P48169 554 61623 9.59 4 Postsynaptic cell membrane;Cell membrane NA PE1 4 +NX_P48200 963 105045 6.62 0 Cytosol;Cell junction;Cytoplasm NA PE1 15 +NX_P48201 142 14693 9.57 2 Mitochondrion membrane NA PE2 2 +NX_P48230 202 21396 4.91 4 Cytosol;Cell membrane;Membrane NA PE1 3 +NX_P48304 166 18665 5.67 0 Secreted NA PE1 2 +NX_P48307 235 26934 8.88 0 Secreted NA PE1 7 +NX_P48357 1165 132494 6.09 1 Cytoplasmic vesicle;Cell membrane;Basolateral cell membrane;Secreted Leptin receptor deficiency PE1 1 +NX_P48378 723 79987 6.29 0 Cytosol;Nucleus;Cytoplasm;Nucleoplasm;Golgi apparatus NA PE1 19 +NX_P48380 749 83530 5.64 0 Nucleus;Cytoplasmic vesicle;Nucleoplasm NA PE1 9 +NX_P48382 616 65323 9.35 0 Nucleus Bare lymphocyte syndrome 2 PE1 1 +NX_P48426 406 46225 6.5 0 Cytoplasm;Nucleus;Cell membrane;Golgi apparatus;Cell membrane;Cytosol NA PE1 10 +NX_P48431 317 34310 9.74 0 Nucleoplasm;Nucleus Microphthalmia, syndromic, 3 PE1 3 +NX_P48436 509 56137 6.31 0 Nucleus;Nucleoplasm 46,XX sex reversal 2;46,XY sex reversal 10;Campomelic dysplasia PE1 17 +NX_P48443 463 50871 7.55 0 Nucleus NA PE1 1 +NX_P48444 511 57210 5.89 0 Golgi apparatus;Cytoplasmic vesicle;Cytoplasm;Golgi apparatus membrane;COPI-coated vesicle membrane Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay PE1 11 +NX_P48448 385 42635 5.65 0 Lipid droplet NA PE2 11 +NX_P48449 732 83309 6.16 0 Cytosol;Endoplasmic reticulum membrane Cataract 44 PE1 21 +NX_P48454 512 58129 6.51 0 Cytoplasmic vesicle NA PE1 8 +NX_P48506 637 72766 5.74 0 Nucleus;Nucleolus;Cytosol Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency PE1 6 +NX_P48507 274 30727 5.7 0 Nucleoplasm;Cytosol;Cell membrane NA PE1 1 +NX_P48509 253 28295 7.45 4 Membrane Nephropathy with pretibial epidermolysis bullosa and deafness PE1 11 +NX_P48539 62 6791 6.21 0 Nucleolus;Cytosol;Nucleus NA PE1 21 +NX_P48544 419 47668 5.24 2 Membrane Long QT syndrome 13;Hyperaldosteronism, familial, 3 PE1 11 +NX_P48546 466 53157 9.09 7 Cell membrane NA PE1 19 +NX_P48547 511 57942 6.13 6 Cytosol;Cell membrane;Nucleus membrane;Nucleus;Cytoplasmic vesicle Epilepsy, progressive myoclonic 7 PE1 11 +NX_P48549 501 56603 8.46 2 Membrane NA PE1 2 +NX_P48551 515 57759 4.37 1 Cell membrane;Secreted Immunodeficiency 45 PE1 21 +NX_P48552 1158 126942 8.36 0 Nucleolus;Nucleus;Nucleus NA PE1 21 +NX_P48553 1259 142189 5.68 0 cis-Golgi network NA PE1 21 +NX_P48556 350 39612 9.73 0 Cytoplasm;Golgi apparatus;Nucleus speckle;Cytosol NA PE1 19 +NX_P48594 390 44854 5.86 0 Cytoplasm NA PE1 18 +NX_P48595 397 45403 5.8 0 Nucleus;Cytoplasm NA PE1 18 +NX_P48634 2157 228863 9.48 0 Cytoplasm;Nucleus NA PE1 6 +NX_P48637 474 52385 5.67 0 Nucleus Glutathione synthetase deficiency;Glutathione synthetase deficiency of erythrocytes PE1 20 +NX_P48643 541 59671 5.45 0 Cytoplasm;Cytosol;Centrosome;Cytoplasm;Nucleolus Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive PE1 5 +NX_P48645 174 19741 9.14 0 Secreted NA PE1 4 +NX_P48651 473 55528 8.71 9 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleoplasm Lenz-Majewski hyperostotic dwarfism PE1 8 +NX_P48664 564 61565 9.26 8 Cytoskeleton;Cell membrane NA PE1 19 +NX_P48668 564 60025 8.09 0 NA Palmoplantar keratoderma, non-epidermolytic, focal or diffuse PE1 12 +NX_P48681 1621 177439 4.35 0 Cytoskeleton NA PE1 1 +NX_P48723 471 51927 5.52 0 Microsome;Endoplasmic reticulum NA PE1 21 +NX_P48728 403 43946 8.87 0 Nucleoplasm;Mitochondrion;Mitochondrion Non-ketotic hyperglycinemia PE1 3 +NX_P48729 337 38915 9.59 0 Nucleus speckle;Kinetochore;Cytoplasm;Centrosome;Cilium basal body NA PE1 5 +NX_P48730 415 47330 9.77 0 Nucleolus;Nucleus;Centrosome;Perinuclear region;Cell membrane;Golgi apparatus;Nucleus;Spindle;Cytoplasm Advanced sleep phase syndrome, familial, 2 PE1 17 +NX_P48735 452 50909 8.88 0 Mitochondrion;Mitochondrion D-2-hydroxyglutaric aciduria 2;Glioma PE1 15 +NX_P48736 1102 126454 7.23 0 Cell membrane;Cytoplasm;Cell membrane NA PE1 7 +NX_P48739 271 31540 6.41 0 Cytoplasm;Golgi apparatus NA PE1 22 +NX_P48740 699 79247 5.29 0 Nucleoplasm;Cytosol;Secreted 3MC syndrome 1 PE1 3 +NX_P48741 367 40244 7.72 0 NA NA PE5 1 +NX_P48742 406 44808 7.86 0 Nucleus NA PE1 17 +NX_P48745 357 39162 8.12 0 Cytoplasmic vesicle;Secreted;Cytoplasm;Gap junction NA PE1 8 +NX_P48751 1232 135791 6.01 10 Membrane;Nucleoplasm NA PE1 2 +NX_P48764 834 92855 7.05 10 Cell membrane;Apical cell membrane Diarrhea 8, secretory sodium, congenital PE1 5 +NX_P48775 406 47872 6.46 0 Cell membrane;Cytosol NA PE1 4 +NX_P48788 182 21339 8.87 0 Nucleoplasm;Cytoskeleton Arthrogryposis, distal, 2B PE1 11 +NX_P48960 835 91869 6.5 7 Cytosol;Cell membrane;Extracellular space NA PE1 19 +NX_P48995 793 91212 8.33 6 Membrane;Cytoplasmic vesicle NA PE1 3 +NX_P49005 469 51289 5.35 0 Nucleoplasm;Nucleus NA PE1 7 +NX_P49006 195 19529 4.68 0 Cell membrane;Cytoplasm;Cytosol;Cell membrane;Cytoskeleton;Nucleoplasm;Membrane NA PE1 1 +NX_P49019 387 44478 9.09 7 Cell membrane NA PE1 12 +NX_P49023 591 64505 5.8 0 Cell cortex;Focal adhesion;Cytosol;Cytoskeleton;Focal adhesion NA PE1 12 +NX_P49069 296 32953 8.2 2 Nucleolus;Cytoplasmic vesicle;Membrane;Nucleus NA PE1 5 +NX_P49116 596 65414 5.89 0 Nucleoplasm;Nucleus NA PE1 3 +NX_P49137 400 45568 8.87 0 Nucleus;Centrosome;Cytoplasm;Nucleoplasm NA PE1 1 +NX_P49146 381 42731 6.79 7 Cell membrane NA PE1 4 +NX_P49184 302 33893 5.45 0 Endoplasmic reticulum;Endoplasmic reticulum NA PE1 X +NX_P49189 494 53802 5.69 0 Cytoplasm;Cytosol NA PE1 1 +NX_P49190 550 62236 6.65 7 Cell membrane NA PE1 2 +NX_P49207 117 13293 11.48 0 Cytosol;Nucleolus;Endoplasmic reticulum NA PE1 4 +NX_P49221 684 77145 6.31 0 NA NA PE1 3 +NX_P49223 89 10252 6.21 0 Secreted NA PE1 20 +NX_P49238 355 40396 6.74 7 Cell membrane Macular degeneration, age-related, 12 PE1 3 +NX_P49247 311 33269 8.78 0 Cell membrane;Cytoplasmic vesicle;Nucleoplasm Ribose 5-phosphate isomerase deficiency PE1 2 +NX_P49257 510 57549 6.3 1 Cytosol;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus membrane;Endoplasmic reticulum membrane Factor V and factor VIII combined deficiency 1 PE1 18 +NX_P49279 550 59872 7.58 12 Membrane NA PE1 2 +NX_P49281 568 62266 5.72 12 Cell membrane;Mitochondrion outer membrane;Mitochondrion;Early endosome;Endosome membrane Anemia, hypochromic microcytic, with iron overload 1 PE1 12 +NX_P49286 362 40188 9.12 7 Cell membrane NA PE1 11 +NX_P49321 788 85238 4.26 0 Cytoplasm;Nucleus;Nucleoplasm;Nucleus;Cytoplasm NA PE1 1 +NX_P49326 533 60221 8.41 0 Cytosol;Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum NA PE1 1 +NX_P49327 2511 273427 6.01 0 Cytosol;Melanosome;Cell membrane;Cytoplasm NA PE1 17 +NX_P49335 361 39427 7.07 0 Nucleus Deafness, X-linked, 2 PE1 X +NX_P49336 464 53284 8.72 0 Nucleus;Nucleus NA PE1 13 +NX_P49354 379 44409 4.96 0 Cytosol NA PE1 8 +NX_P49356 437 48774 5.51 0 Centrosome NA PE1 14 +NX_P49366 369 40971 5.22 0 Cytosol;Cell membrane;Nucleoplasm NA PE1 19 +NX_P49368 545 60534 6.1 0 Cytosol;Cell membrane;Cytoplasm NA PE1 1 +NX_P49406 292 33535 9.55 0 Mitochondrion;Mitochondrion NA PE1 2 +NX_P49407 418 47066 5.84 0 Cytoplasm;Nucleoplasm;Nucleus;Cell membrane;Clathrin-coated pit;Pseudopodium;Cytoplasmic vesicle NA PE1 11 +NX_P49411 452 49542 7.26 0 Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 4 PE1 16 +NX_P49418 695 76257 4.58 0 Synaptic vesicle membrane;Cytosol;Cell membrane;Cytoskeleton NA PE1 7 +NX_P49419 539 58487 8.21 0 Cytosol;Cytosol;Nucleus;Mitochondrion;Mitochondrion Pyridoxine-dependent epilepsy PE1 5 +NX_P49427 236 26737 4.41 0 Nucleus speckle;Cytosol;Cytoplasm;Nucleus NA PE1 19 +NX_P49441 399 43998 5.15 0 Microtubule organizing center;Cytoplasmic vesicle NA PE1 2 +NX_P49447 251 27559 8.73 6 Membrane NA PE1 17 +NX_P49448 558 61434 8.63 0 Mitochondrion matrix NA PE1 X +NX_P49450 140 15991 11.71 0 Nucleus;Nucleus;Kinetochore;Centromere NA PE1 2 +NX_P49454 3210 367764 5.03 0 Nucleus matrix;Kinetochore;Spindle;Nucleoplasm;Perinuclear region Stromme syndrome PE1 1 +NX_P49458 86 10112 7.76 0 Cytoplasm NA PE1 1 +NX_P49459 152 17315 5.06 0 NA Mental retardation, X-linked, syndromic, Nascimento-type PE1 X +NX_P49585 367 41731 6.82 0 Nucleus;Cytosol;Membrane Spondylometaphyseal dysplasia with cone-rod dystrophy PE1 3 +NX_P49588 968 106810 5.34 0 Cytoplasm;Cytosol Charcot-Marie-Tooth disease 2N;Epileptic encephalopathy, early infantile, 29 PE1 16 +NX_P49589 748 85473 6.31 0 Cytoplasm;Cytosol NA PE1 11 +NX_P49590 506 56888 8.53 0 Cytosol;Mitochondrion matrix Perrault syndrome 2 PE1 5 +NX_P49591 514 58777 6.05 0 Cytoplasm;Cytosol;Nucleus NA PE1 1 +NX_P49593 454 49831 4.99 0 Cell membrane;Nucleoplasm NA PE1 22 +NX_P49619 791 89124 6.36 0 Cytoplasmic vesicle;Cytoplasm;Membrane;Cell membrane NA PE1 3 +NX_P49638 278 31750 7.17 0 Cytoplasm Ataxia with isolated vitamin E deficiency PE1 8 +NX_P49639 335 36641 8.13 0 Nucleus Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome PE1 7 +NX_P49640 407 42440 6.41 0 Nucleus;Nucleoplasm NA PE2 7 +NX_P49641 1150 130539 6.35 1 Golgi apparatus membrane NA PE1 15 +NX_P49642 420 49902 8.39 0 Cytoplasmic vesicle NA PE1 12 +NX_P49643 509 58806 7.97 0 Nucleoplasm NA PE1 6 +NX_P49662 377 43262 5.69 0 Cell membrane;Cytosol;Secreted;Inflammasome;Mitochondrion;Endoplasmic reticulum membrane;Cytosol NA PE1 11 +NX_P49674 416 47315 9.68 0 Nucleus;Nucleus;Cytosol;Cytoplasm NA PE1 22 +NX_P49675 285 31914 9.17 0 Mitochondrion Adrenal hyperplasia 1 PE1 8 +NX_P49682 368 40660 7.92 7 Cell membrane NA PE1 X +NX_P49683 370 41121 9.43 7 Cell membrane NA PE1 10 +NX_P49685 360 40787 9.01 7 Cell membrane NA PE1 3 +NX_P49703 201 22156 9.94 0 Cytoplasmic vesicle;Nucleolus;Golgi apparatus;Cell membrane;Nucleus;Cytoplasm NA PE1 17 +NX_P49711 727 82785 6.51 0 Nucleoplasm;Centromere;Chromosome;Nucleoplasm Mental retardation, autosomal dominant 21 PE1 16 +NX_P49715 358 37561 7.27 0 Nucleus;Nucleolus;Nucleoplasm;Cytoplasmic vesicle Leukemia, acute myelogenous PE1 19 +NX_P49716 269 28467 8.44 0 Nucleoplasm;Nucleus NA PE1 8 +NX_P49720 205 22949 6.14 0 Nucleus;Cytoplasm NA PE1 17 +NX_P49721 201 22836 6.52 0 Cytoplasm;Nucleoplasm;Nucleus NA PE1 1 +NX_P49736 904 101896 5.34 0 Nucleus;Cytosol;Nucleoplasm Deafness, autosomal dominant, 70 PE1 3 +NX_P49746 956 104201 4.43 0 NA NA PE1 1 +NX_P49747 757 82860 4.36 0 Extracellular matrix Multiple epiphyseal dysplasia 1;Pseudoachondroplasia PE1 19 +NX_P49748 655 70390 8.92 0 Mitochondrion inner membrane;Mitochondrion;Nucleus;Nucleolus Acyl-CoA dehydrogenase very long-chain deficiency PE1 17 +NX_P49750 1951 219985 6.14 0 Nucleus speckle;Nucleoplasm;Nucleus;Nucleus speckle NA PE1 14 +NX_P49753 483 53218 8.7 0 Mitochondrion NA PE1 14 +NX_P49754 854 98566 5.56 0 Endosome membrane;Late endosome;Lysosome;trans-Golgi network;Early endosome;Clathrin-coated vesicle NA PE1 7 +NX_P49755 219 24976 6.98 1 Golgi apparatus;Melanosome;Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Secretory vesicle membrane;Cell membrane;trans-Golgi network membrane NA PE1 14 +NX_P49756 843 100185 6.06 0 Nucleus speckle;Nucleus speckle;Cytoplasm NA PE1 14 +NX_P49757 651 70804 8.79 0 Cytosol;Cell junction;Membrane NA PE1 14 +NX_P49758 472 54423 7.05 0 Cytoplasm;Cytosol;Cell membrane;Nucleus;Membrane NA PE1 14 +NX_P49759 484 57291 9.05 0 Nucleus membrane;Nucleus;Nucleoplasm NA PE1 2 +NX_P49760 499 60090 9.69 0 Nucleus;Nucleus;Nucleus speckle;Nucleoplasm NA PE1 1 +NX_P49761 638 73515 9.94 0 Nucleus;Cytoskeleton;Nucleoplasm;Cytoplasm;Acrosome;Nucleus speckle NA PE1 15 +NX_P49763 221 24789 8.52 0 Cytosol;Mitochondrion;Secreted;Nucleoplasm NA PE1 14 +NX_P49765 207 21602 8.46 0 Secreted NA PE1 11 +NX_P49767 419 46883 7.77 0 Secreted Lymphedema, hereditary, 1D PE1 4 +NX_P49768 467 52668 5.18 9 Endoplasmic reticulum membrane;Cell junction;Golgi apparatus membrane;Golgi apparatus;Nucleus;Cytoplasmic granule;Cell membrane Frontotemporal dementia;Acne inversa, familial, 3;Alzheimer disease 3;Cardiomyopathy, dilated 1U PE1 14 +NX_P49770 351 38990 5.77 0 Cell membrane;Focal adhesion;Nucleoplasm Leukodystrophy with vanishing white matter PE1 14 +NX_P49771 235 26416 7.6 1 Cell membrane;Secreted NA PE1 19 +NX_P49773 126 13802 6.43 0 Cytosol;Cytoplasm;Nucleus;Nucleus;Cell membrane Neuromyotonia and axonal neuropathy, autosomal recessive PE1 5 +NX_P49788 294 33285 8.74 1 Membrane;Endoplasmic reticulum;Golgi apparatus NA PE1 3 +NX_P49789 147 16858 6.54 0 Nucleolus;Cell membrane;Cytoplasm;Mitochondrion;Nucleus NA PE1 3 +NX_P49790 1475 153938 8.97 0 Nucleus membrane;Nucleus;Nuclear pore complex;Nucleus membrane;Nucleus;Nucleus membrane NA PE1 6 +NX_P49792 3224 358199 5.86 0 Nucleus;Nucleus membrane;Nuclear pore complex;Nucleus envelope Encephalopathy, acute, infection-induced, 3 PE1 2 +NX_P49795 217 24636 5.43 0 Cytoplasmic vesicle;Nucleolus;Membrane NA PE1 20 +NX_P49796 1198 132336 5.9 0 Cytosol;Cytoplasm;Nucleus;Cell membrane;Mitochondrion;Nucleoplasm NA PE1 9 +NX_P49798 205 23256 8.69 0 Endoplasmic reticulum Schizophrenia PE1 1 +NX_P49802 495 57668 8.33 0 Cytoplasm;Nucleus;Cell membrane;Membrane;Cytosol NA PE1 1 +NX_P49810 448 50140 4.51 8 Endoplasmic reticulum membrane;Golgi apparatus membrane Cardiomyopathy, dilated 1V;Alzheimer disease 4 PE1 1 +NX_P49815 1807 200608 6.98 0 Cytosol;Membrane;Cytoplasm Focal cortical dysplasia 2;Tuberous sclerosis 2;Lymphangioleiomyomatosis PE1 16 +NX_P49821 464 50817 8.51 0 Mitochondrion;Mitochondrion inner membrane;Cytosol Leigh syndrome;Mitochondrial complex I deficiency PE1 11 +NX_P49840 483 50981 8.95 0 Cytosol NA PE1 19 +NX_P49841 420 46744 8.98 0 Cell membrane;Nucleus;Cytoplasm;Nucleus NA PE1 3 +NX_P49842 368 40916 9.8 0 Nucleus;Nucleus speckle NA PE1 6 +NX_P49848 677 72668 8.83 0 Nucleus;Cytosol;Nucleus Alazami-Yuan syndrome PE1 7 +NX_P49862 253 27525 8.82 0 Cell membrane;Secreted NA PE1 19 +NX_P49863 264 28882 9.48 0 Cytoplasmic granule;Secreted NA PE1 5 +NX_P49888 294 35126 6.18 0 Cytoplasm NA PE1 4 +NX_P49895 249 28924 8.9 1 Endoplasmic reticulum membrane NA PE1 1 +NX_P49901 116 12767 8.49 0 Cytoplasm;Mitochondrion membrane NA PE1 1 +NX_P49902 561 64970 5.75 0 Cytoplasm Spastic paraplegia 45, autosomal recessive PE1 10 +NX_P49903 392 42911 5.65 0 Cell membrane;Nucleus membrane;Cytoplasm;Nucleoplasm NA PE1 10 +NX_P49908 381 43174 8.08 0 Nucleus;Golgi apparatus;Secreted NA PE1 5 +NX_P49910 485 55771 6.74 0 Nucleus;Cytoskeleton;Nucleus speckle NA PE1 6 +NX_P49913 170 19301 9.48 0 Secreted NA PE1 3 +NX_P49914 203 23256 7.71 0 Cytosol;Cytoplasm NA PE1 15 +NX_P49915 693 76715 6.42 0 Cytosol;Cytoplasm NA PE1 3 +NX_P49916 1009 112907 9.17 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 17 +NX_P49917 911 103971 8.17 0 Nucleus;Nucleoplasm;Cytosol;Cell membrane Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation;LIG4 syndrome PE1 13 +NX_P49918 316 32177 5.39 0 Nucleus;Nucleus;Cytosol;Nucleoplasm Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies;Beckwith-Wiedemann syndrome PE1 11 +NX_P49959 708 80593 5.61 0 Nucleus;Telomere;Nucleoplasm Ataxia-telangiectasia-like disorder 1 PE1 11 +NX_P49961 510 57965 5.93 2 Membrane;Cytoskeleton Spastic paraplegia 64, autosomal recessive PE1 10 +NX_P50052 363 41184 9.31 7 Cell membrane NA PE1 X +NX_P50053 298 32523 5.91 0 Cytosol Fructosuria PE1 2 +NX_P50120 134 15707 5.27 0 Golgi apparatus;Cytoplasm NA PE1 3 +NX_P50135 292 33295 5.18 0 Cytoplasm Mental retardation, autosomal recessive 51 PE1 2 +NX_P50148 359 42142 5.48 0 Nucleus speckle;Nucleus;Membrane;Nucleus membrane;Cytosol;Cell membrane Capillary malformations, congenital;Sturge-Weber syndrome PE1 9 +NX_P50150 75 8389 6.55 0 Cell membrane NA PE1 1 +NX_P50151 68 7205 7.71 0 Cell membrane NA PE1 9 +NX_P50213 366 39592 6.46 0 Mitochondrion;Mitochondrion NA PE1 15 +NX_P50219 401 40569 7.27 0 Nucleus;Nucleolus;Cytosol;Nucleus Currarino syndrome PE1 7 +NX_P50221 254 27997 7.79 0 Mitochondrion;Nucleolus;Nucleus;Cytoplasm Klippel-Feil syndrome 2, autosomal recessive PE1 17 +NX_P50222 304 33594 7.87 0 Nucleus speckle;Nucleus NA PE1 7 +NX_P50225 295 34165 6.16 0 Cytoplasm NA PE1 16 +NX_P50226 295 34310 7.75 0 Cytoplasm NA PE1 16 +NX_P50238 77 8533 9.05 0 Nucleus speckle;Centrosome;Cytosol NA PE1 14 +NX_P50281 582 65894 7.63 1 Cytoskeleton;Cytosol;Cytoplasm;Membrane;Melanosome Winchester syndrome PE1 14 +NX_P50336 477 50765 8.43 0 Mitochondrion inner membrane;Mitochondrion;Cytosol Variegate porphyria PE1 1 +NX_P50391 375 42195 8.46 7 Cell membrane NA PE2 10 +NX_P50395 445 50663 6.11 0 Cytoplasm;Membrane NA PE1 10 +NX_P50402 254 28994 5.29 1 Nucleus envelope;Nucleus inner membrane;Nucleus outer membrane;Nucleus membrane;Endoplasmic reticulum Emery-Dreifuss muscular dystrophy 1, X-linked PE1 X +NX_P50406 440 46954 9.27 7 Cell membrane NA PE1 1 +NX_P50416 773 88368 8.85 2 Mitochondrion;Mitochondrion outer membrane Carnitine palmitoyltransferase 1A deficiency PE1 11 +NX_P50440 423 48455 8.26 0 Mitochondrion;Cytoplasm;Mitochondrion inner membrane Cerebral creatine deficiency syndrome 3 PE1 15 +NX_P50443 739 81662 8.67 8 Cytoplasmic vesicle;Cell membrane Atelosteogenesis 2;Diastrophic dysplasia;Achondrogenesis 1B;Multiple epiphyseal dysplasia 4 PE1 5 +NX_P50452 374 42767 5.41 0 Cytosol;Cytoplasm;Nucleus Peeling skin syndrome 5 PE1 18 +NX_P50453 376 42404 5.61 0 Cytoplasm NA PE1 6 +NX_P50454 418 46441 8.75 0 Endoplasmic reticulum lumen;Endoplasmic reticulum Osteogenesis imperfecta 10 PE1 11 +NX_P50458 406 44373 8.81 0 Nucleoplasm;Nucleus NA PE1 9 +NX_P50461 194 20969 8.89 0 Cytoplasm;Cytoskeleton;Z line;Nucleus;Sarcomere Cardiomyopathy, dilated 1M;Cardiomyopathy, familial hypertrophic 12 PE1 11 +NX_P50479 330 35398 8.07 0 Cytoskeleton;Cytosol;Cytoskeleton;Nucleus;Cytoplasm;Perinuclear region;Lamellipodium;Dendritic spine;Early endosome membrane;Recycling endosome membrane;Synaptosome NA PE1 5 +NX_P50502 369 41332 5.18 0 Cytoplasm NA PE1 22 +NX_P50539 228 26062 6.57 0 Nucleolus;Nucleus;Nucleus Prostate cancer PE1 10 +NX_P50542 639 70865 4.43 0 Cytosol;Cytoplasm;Golgi apparatus;Peroxisome membrane Rhizomelic chondrodysplasia punctata 5;Peroxisome biogenesis disorder 2A;Peroxisome biogenesis disorder 2B PE1 12 +NX_P50548 548 58703 6.85 0 Nucleoplasm;Nucleus Chitayat syndrome;Craniosynostosis 4 PE1 19 +NX_P50549 477 55131 5.7 0 Nucleoplasm;Nucleus Ewing sarcoma PE1 7 +NX_P50552 380 39830 9.05 0 Cytoplasm;Focal adhesion;Lamellipodium membrane;Filopodium membrane;Cell junction;Cell membrane;Cytoplasm;Cytoskeleton;Focal adhesion;Tight junction NA PE1 19 +NX_P50553 236 25454 8.93 0 Nucleus NA PE1 12 +NX_P50570 870 98064 7.04 0 Cytoplasm;Cytoskeleton;Cytosol;Cell junction;Clathrin-coated pit;Postsynaptic density;Synapse;Midbody;Phagocytic cup;Phagosome membrane;Golgi apparatus Myopathy, centronuclear, 1;Charcot-Marie-Tooth disease 2M;Lethal congenital contracture syndrome 5;Charcot-Marie-Tooth disease, dominant, intermediate type, B PE1 19 +NX_P50579 478 52892 5.57 0 Cytoplasm;Cytosol;Cell membrane;Cytoplasm NA PE1 12 +NX_P50583 147 16829 5.23 0 Nucleoplasm NA PE1 9 +NX_P50591 281 32509 7.01 1 Cytoskeleton;Membrane NA PE1 3 +NX_P50607 506 55651 8.88 0 Cytoplasm;Nucleus;Secreted;Cell membrane;Microtubule organizing center;Centrosome;Nucleolus Retinal dystrophy and obesity PE1 11 +NX_P50613 346 39038 8.66 0 Nucleus;Cytoplasm;Perinuclear region NA PE1 5 +NX_P50616 345 38155 6.45 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoplasm NA PE1 17 +NX_P50747 726 80760 5.4 0 Cytoplasm;Mitochondrion;Cytosol Holocarboxylase synthetase deficiency PE1 21 +NX_P50748 2209 250749 5.67 0 Cytosol;Spindle;Cell membrane;Cytoplasm;Nucleus;Kinetochore NA PE1 12 +NX_P50749 326 37790 8.93 0 Nucleoplasm;Cytosol;Kinetochore;Cytoplasm;Nucleus NA PE1 20 +NX_P50750 372 42778 8.97 0 Cytosol;Nucleoplasm;PML body;Cytoplasm;Nucleus NA PE1 9 +NX_P50851 2863 319108 5.39 1 Lysosome;trans-Golgi network;Endoplasmic reticulum;Cell membrane;Golgi apparatus;Cytosol Immunodeficiency, common variable, 8, with autoimmunity PE1 4 +NX_P50876 292 32890 5.91 1 Cell membrane;Cytoplasmic vesicle membrane;Cytoplasmic vesicle NA PE1 2 +NX_P50895 628 67405 5.53 1 Membrane;Nucleolus NA PE1 19 +NX_P50897 306 34193 6.07 0 Secreted;Lysosome Ceroid lipofuscinosis, neuronal, 1 PE1 1 +NX_P50914 215 23432 10.94 0 Cytoplasm NA PE1 3 +NX_P50990 548 59621 5.42 0 Cytoplasm;Cytoskeleton;Cytosol;Cytoplasm;Centrosome;Cilium basal body;Nucleus NA PE1 21 +NX_P50991 539 57924 7.96 0 Cytosol;Cilium basal body;Centrosome;Melanosome;Cytoplasm;Nucleoplasm NA PE1 2 +NX_P50993 1020 112265 5.47 10 Membrane;Cell membrane Alternating hemiplegia of childhood 1;Migraine, familial hemiplegic, 2 PE1 1 +NX_P50995 505 54390 7.53 0 Cytoplasm;Cytosol;Nucleus envelope;Nucleoplasm;Spindle;Nucleoplasm;Cytoplasm;Melanosome NA PE1 10 +NX_P51003 745 82843 6.96 0 Cytoplasm;Nucleoplasm;Nucleus NA PE1 14 +NX_P51114 621 69721 5.84 0 Cytoplasm;Cytosol;Cytoplasm NA PE1 3 +NX_P51116 673 74223 5.95 0 Cytoplasm;Cytosol NA PE1 17 +NX_P51124 257 27545 10.16 0 Secreted;Cytoplasmic granule NA PE1 19 +NX_P51148 216 23483 8.64 0 Melanosome;Cell membrane;Endosome;Early endosome membrane NA PE1 17 +NX_P51149 207 23490 6.39 0 Lysosome;Phagosome membrane;Late endosome membrane;Lysosome membrane;Melanosome membrane;Autophagosome membrane;Lipid droplet;Endosome membrane Charcot-Marie-Tooth disease 2B PE1 3 +NX_P51151 201 22838 5.26 0 Cytosol;Nucleoplasm;Golgi apparatus membrane;Late endosome;Phagosome membrane;Phagosome;Cytoplasmic vesicle membrane;Melanosome;Cell membrane;Endoplasmic reticulum membrane NA PE1 X +NX_P51153 203 22774 9.27 0 Cytosol;Lamellipodium;Recycling endosome membrane;trans-Golgi network membrane;Cell membrane;Cell membrane;Cytoplasmic vesicle membrane;Tight junction NA PE1 1 +NX_P51157 221 24841 5.7 0 Cell membrane;Cilium basal body Cone-rod dystrophy 18 PE1 4 +NX_P51159 221 24868 5.09 0 Membrane;Lysosome;Melanosome;Late endosome Griscelli syndrome 2 PE1 15 +NX_P51160 858 99147 5.5 0 Cell membrane Achromatopsia 5;Cone dystrophy 4 PE1 10 +NX_P51161 128 14371 6.29 0 Cytoplasm;Membrane NA PE1 5 +NX_P51164 291 33367 6.98 1 Cell membrane NA PE1 13 +NX_P51168 640 72659 5.89 2 Apical cell membrane;Cytoplasmic vesicle membrane Bronchiectasis with or without elevated sweat chloride 1;Liddle syndrome;Pseudohypoaldosteronism 1, autosomal recessive PE1 16 +NX_P51170 649 74270 7.47 2 Cell membrane;Apical cell membrane;Nucleolus;Nucleoplasm Liddle syndrome;Bronchiectasis with or without elevated sweat chloride 3 PE1 16 +NX_P51172 638 70215 8.06 2 Cell membrane;Cell membrane;Cytoskeleton NA PE1 1 +NX_P51178 756 85665 6.23 0 Cytoskeleton Nail disorder, non-syndromic congenital, 3 PE1 3 +NX_P51397 102 11165 9.3 0 Cytoplasm NA PE1 5 +NX_P51398 398 45566 9.02 0 Mitochondrion;Mitochondrion;Mitochondrion;Nucleoplasm NA PE1 1 +NX_P51449 518 58195 8.88 0 Nucleus;Nucleus;Nucleus Immunodeficiency 42 PE1 1 +NX_P51451 505 57706 7.98 0 Cell membrane Maturity-onset diabetes of the young 11 PE1 8 +NX_P51452 185 20478 7.66 0 Cytosol;Nucleus;Nucleoplasm NA PE1 17 +NX_P51460 131 14502 9.18 0 Secreted Cryptorchidism PE1 19 +NX_P51504 273 31224 9.04 0 Nucleus NA PE1 3 +NX_P51508 661 75960 8.96 0 Nucleus NA PE1 X +NX_P51511 669 75807 7.03 1 Nucleoplasm;Cell membrane;Cytosol;Membrane NA PE1 16 +NX_P51512 607 69521 8.72 1 Extracellular matrix;Cytosol;Cell membrane;Cell surface;Cytoplasmic vesicle NA PE1 8 +NX_P51513 510 52056 8.93 0 Nucleus;Nucleus;Nucleolus NA PE1 14 +NX_P51522 516 59710 9.38 0 Nucleoplasm;Nucleus NA PE1 19 +NX_P51523 738 85457 9.05 0 Nucleoplasm;Nucleus NA PE1 12 +NX_P51530 1060 120415 7.95 0 Mitochondrion;Mitochondrion;Nucleus Seckel syndrome 8;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 PE1 10 +NX_P51531 1590 181279 6.76 0 Cytoskeleton;Nucleoplasm;Nucleus;Cytoplasmic vesicle Schizophrenia;Nicolaides-Baraitser syndrome PE1 9 +NX_P51532 1647 184646 7.83 0 Nucleoplasm;Nucleus Rhabdoid tumor predisposition syndrome 2;Coffin-Siris syndrome 4 PE1 19 +NX_P51553 393 42794 8.75 0 Mitochondrion;Mitochondrion;Mitochondrion NA PE1 X +NX_P51570 392 42272 6.04 0 Cytosol;Golgi apparatus Galactosemia II PE1 17 +NX_P51571 173 18999 5.76 1 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1Y PE1 X +NX_P51572 246 27992 8.44 3 Endoplasmic reticulum;Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane Deafness, dystonia, and cerebral hypomyelination PE1 X +NX_P51575 399 44980 8.75 2 Membrane NA PE1 17 +NX_P51580 245 28180 5.85 0 Cytoplasm NA PE1 6 +NX_P51582 365 40963 8.92 7 Cell membrane NA PE1 X +NX_P51587 3418 384202 6.29 0 Nucleoplasm;Nucleus;Centrosome;Cytosol Breast-ovarian cancer, familial, 2;Glioma 3;Pancreatic cancer 2;Breast cancer;Fanconi anemia complementation group D1 PE1 13 +NX_P51589 502 57611 8.76 0 Microsome membrane;Endoplasmic reticulum membrane NA PE1 1 +NX_P51606 427 48831 5.95 0 Nucleus;Cytoplasm NA PE1 X +NX_P51608 486 52441 9.95 0 Nucleus;Nucleus;Nucleus Autism, X-linked 3;Rett syndrome;Mental retardation, X-linked, syndromic, Lubs type;Mental retardation, X-linked, syndromic, 13;Encephalopathy, neonatal severe, due to MECP2 mutations;Angelman syndrome PE1 X +NX_P51610 2035 208732 7.32 0 Cytoplasm;Nucleus;Nucleoplasm;Mitochondrion Mental retardation, X-linked 3 PE1 X +NX_P51617 712 76537 6.18 0 Mitochondrion;Cytosol;Lipid droplet;Nucleus;Cytoplasm;Nucleus NA PE1 X +NX_P51636 162 18291 5.06 0 Cell membrane;Golgi apparatus;Caveola;Nucleus;Cytoplasm;Golgi apparatus membrane;Cell membrane;Cytoplasmic vesicle NA PE1 7 +NX_P51648 485 54848 7.98 1 Endoplasmic reticulum membrane Sjoegren-Larsson syndrome PE1 17 +NX_P51649 535 57215 8.62 0 Mitochondrion;Mitochondrion Succinic semialdehyde dehydrogenase deficiency PE1 6 +NX_P51654 580 65563 5.96 0 Extracellular space;Cell membrane;Cell membrane Simpson-Golabi-Behmel syndrome 1 PE1 X +NX_P51659 736 79686 8.96 0 Peroxisome;Peroxisome D-bifunctional protein deficiency;Perrault syndrome 1 PE1 5 +NX_P51665 324 37025 6.29 0 Nucleoplasm NA PE1 16 +NX_P51668 147 16602 6.94 0 Cytoplasm NA PE1 10 +NX_P51671 97 10732 9.98 0 Secreted NA PE1 17 +NX_P51674 278 31210 5.17 4 Axon;Cell membrane;Dendritic spine;Filopodium NA PE1 4 +NX_P51677 355 41044 8.49 7 Cell membrane NA PE1 3 +NX_P51679 360 41403 7.47 7 Cell membrane NA PE1 3 +NX_P51681 352 40524 9.21 7 Cell membrane Diabetes mellitus, insulin-dependent, 22 PE1 3 +NX_P51684 374 42494 9.23 7 Cell membrane;Cell surface NA PE1 6 +NX_P51685 355 40844 8.66 7 Cell membrane NA PE1 3 +NX_P51686 369 42016 8.54 7 Cell membrane NA PE1 3 +NX_P51687 545 60283 5.72 0 Mitochondrion intermembrane space Isolated sulfite oxidase deficiency PE1 12 +NX_P51688 502 56695 6.46 0 Lysosome Mucopolysaccharidosis 3A PE1 17 +NX_P51689 593 64860 6.78 0 Cytoplasmic vesicle;Lipid droplet;Lysosome NA PE1 X +NX_P51690 589 65669 6.48 0 Golgi apparatus;Golgi stack Chondrodysplasia punctata 1, X-linked recessive PE1 X +NX_P51692 787 89866 5.71 0 Nucleus;Cytoplasm Growth hormone insensitivity with immunodeficiency PE1 17 +NX_P51693 650 72176 5.54 1 Cell membrane;Cytoplasm NA PE1 19 +NX_P51784 963 109817 5.28 0 Nucleoplasm;Nucleus;Cytoplasm;Chromosome NA PE1 X +NX_P51786 506 58291 8.83 0 Nucleus NA PE1 X +NX_P51787 676 74699 9.88 6 Cell membrane;Cytoplasmic vesicle membrane;Early endosome;Membrane raft;Endoplasmic reticulum;Basolateral cell membrane Jervell and Lange-Nielsen syndrome 1;Diabetes mellitus, non-insulin-dependent;Short QT syndrome 2;Long QT syndrome 1;Atrial fibrillation, familial, 3 PE1 11 +NX_P51788 898 98535 8.7 10 Cytosol;Cell membrane Juvenile absence epilepsy 2;Juvenile myoclonic epilepsy 8;Epilepsy, idiopathic generalized 11;Leukoencephalopathy with ataxia PE1 3 +NX_P51790 818 90966 5.88 10 Endoplasmic reticulum;Cytosol;Early endosome membrane;Late endosome membrane;Secretory vesicle membrane;Golgi apparatus membrane NA PE1 4 +NX_P51793 760 84917 6.43 10 Endoplasmic reticulum membrane;Late endosome membrane;Early endosome membrane;Cytoplasmic vesicle Mental retardation, X-linked 49 PE1 X +NX_P51795 746 83147 6.37 10 Golgi apparatus;Cell membrane;Cytosol;Golgi apparatus membrane;Endosome membrane;Cell membrane Nephrolithiasis 2;Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis;Nephrolithiasis 1;Hypophosphatemic rickets, X-linked recessive PE1 X +NX_P51797 869 97289 6.39 10 Cytosol;Cell membrane;Endosome membrane NA PE1 1 +NX_P51798 805 88679 8.66 10 Lysosome membrane;Nucleoplasm Osteopetrosis, autosomal recessive 2;Osteopetrosis, autosomal dominant 2;Osteopetrosis, autosomal recessive 4 PE1 16 +NX_P51800 687 75285 7.62 10 Membrane Bartter syndrome 4B, neonatal, with sensorineural deafness PE1 1 +NX_P51801 687 75446 8.2 11 Cell membrane Bartter syndrome 3;Bartter syndrome 4B, neonatal, with sensorineural deafness PE1 1 +NX_P51805 1871 207703 7.06 1 Cell junction;Cytoplasmic vesicle;Cell membrane;Cell membrane NA PE1 X +NX_P51808 116 13062 5.37 0 Nucleus;Cytoskeleton;Kinetochore NA PE1 X +NX_P51809 220 24935 8.86 1 Cytoplasmic vesicle;Secretory vesicle membrane;trans-Golgi network membrane;Late endosome membrane;Lysosome membrane;Endoplasmic reticulum membrane;Phagosome membrane;Synaptosome NA PE1 X +NX_P51810 404 43878 7.53 7 Lysosome membrane;Apical cell membrane;Melanosome membrane Albinism ocular 1;Nystagmus congenital X-linked 6 PE1 X +NX_P51811 444 50902 8.6 10 Nucleoplasm;Membrane;Cytoplasmic vesicle;Mitochondrion McLeod syndrome PE1 X +NX_P51812 740 83736 6.41 0 Cytoplasm;Nucleus;Nucleus;Nucleolus;Cytosol Mental retardation, X-linked 19;Coffin-Lowry syndrome PE1 X +NX_P51813 675 78011 8.7 0 Cell membrane;Cytoplasm;Nucleoplasm NA PE1 X +NX_P51814 821 93728 9.06 0 Nucleoplasm;Nucleus NA PE1 X +NX_P51815 510 59298 9.35 0 Nucleoplasm;Golgi apparatus;Nucleus NA PE2 X +NX_P51816 1311 144771 8.23 0 Nucleus speckle Mental retardation, X-linked, associated with fragile site FRAXE PE1 X +NX_P51817 358 40896 6.37 0 Cytoplasm;Nucleus;Nucleus NA PE1 X +NX_P51825 1210 131422 9.26 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 4 +NX_P51826 1226 133476 8.35 0 Nucleoplasm;Nucleus;Cytosol NA PE1 2 +NX_P51828 1080 120308 8.49 12 Cytosol;Membrane NA PE1 16 +NX_P51841 1108 124850 6.87 1 Membrane NA PE1 X +NX_P51843 470 51718 8.47 0 Cytoplasm;Nucleoplasm;Nucleus Adrenal hypoplasia, congenital;46,XY sex reversal 2 PE1 X +NX_P51854 596 65333 5.56 0 Cytoplasm;Cytoplasm;Nucleus NA PE1 X +NX_P51857 326 37377 7.14 0 Nucleoplasm;Cytosol;Cytoplasm Congenital bile acid synthesis defect 2 PE1 7 +NX_P51858 240 26788 4.7 0 Nucleus;Cytoplasm;Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_P51861 262 31279 4.35 0 Centrosome;Golgi apparatus;Nucleoplasm NA PE1 X +NX_P51864 188 21181 8.2 0 Cell membrane NA PE5 X +NX_P51878 434 49736 9.28 0 NA NA PE1 11 +NX_P51884 338 38429 6.16 0 Extracellular matrix NA PE1 12 +NX_P51888 382 43810 9.47 0 Extracellular matrix NA PE1 1 +NX_P51911 297 33170 9.14 0 Cytoskeleton NA PE1 19 +NX_P51946 323 37643 6.73 0 Nucleus;Nucleoplasm NA PE1 5 +NX_P51948 309 35823 5.79 0 Nucleus;Nucleoplasm NA PE1 14 +NX_P51955 445 51763 9.03 0 Centrosome;Nucleus;Nucleolus;Cytoplasm;Kinetochore;Centrosome;Centromere;Nucleus;Spindle pole Retinitis pigmentosa 67 PE1 1 +NX_P51956 506 57705 6.72 0 Cytoskeleton;Cytoplasm;Axon NA PE1 13 +NX_P51957 841 94597 8.04 0 Nucleoplasm;Cilium;Cytoplasm NA PE1 3 +NX_P51959 295 34074 9.06 0 Nucleus;Nucleoplasm NA PE1 5 +NX_P51965 193 21404 8.77 0 Nucleoplasm;Nucleus NA PE1 3 +NX_P51970 172 20105 7.58 0 Mitochondrion;Mitochondrion inner membrane;Mitochondrion intermembrane space NA PE1 9 +NX_P51991 378 39595 9.1 0 Nucleus;Nucleus NA PE1 2 +NX_P51993 359 41860 8.92 1 Golgi apparatus;Golgi stack membrane NA PE1 19 +NX_P52179 1685 187627 6.5 0 M line NA PE1 18 +NX_P52198 227 25369 8.66 0 Acrosome membrane NA PE1 17 +NX_P52209 483 53140 6.8 0 Cytoskeleton;Cytosol;Cytoplasm NA PE1 1 +NX_P52272 730 77516 8.84 0 Nucleus;Nucleoplasm;Nucleolus NA PE1 19 +NX_P52292 529 57862 5.25 0 Cytoplasm;Nucleus;Nucleoplasm;Nucleus;Cytosol;Cytoplasm NA PE1 17 +NX_P52294 538 60222 4.94 0 Nucleus;Cytosol;Nucleus;Nucleus;Cytoplasm;Cytoplasm NA PE1 3 +NX_P52298 156 18001 8.34 0 Nucleus;Nucleus;Cytoplasm;Nucleoplasm NA PE1 3 +NX_P52306 607 66317 5.17 0 Cytosol NA PE1 4 +NX_P52333 1124 125099 6.77 0 Cytosol;Cytoplasm;Endomembrane system Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative PE1 19 +NX_P52429 567 63927 8.02 2 Membrane;Nucleus;Membrane;Cytoplasm;Cytosol Nephrotic syndrome 7;Hemolytic uremic syndrome atypical 7 PE1 17 +NX_P52434 150 17143 4.5 0 Nucleus;Nucleolus NA PE1 3 +NX_P52435 117 13293 5.63 0 Nucleus NA PE1 7 +NX_P52564 334 37492 7.01 0 Nucleus;Cytoplasm;Cytoskeleton;Cytosol;Nucleus NA PE1 17 +NX_P52565 204 23207 5.03 0 Cytosol;Cytoplasm Nephrotic syndrome 8 PE1 17 +NX_P52566 201 22988 5.1 0 Cytosol;Cytosol NA PE1 12 +NX_P52569 658 71673 7.01 14 Cell junction;Cell membrane;Cell membrane NA PE1 8 +NX_P52594 562 58260 8.82 0 Cytoplasmic vesicle;Nucleus;Cytoplasmic vesicle NA PE1 2 +NX_P52597 415 45672 5.38 0 Nucleoplasm NA PE1 10 +NX_P52630 851 97916 5.34 0 Cytosol;Cell membrane;Cytoplasm;Nucleus Immunodeficiency 44 PE1 12 +NX_P52655 376 41514 4.4 0 Cytosol;Nucleoplasm;Nucleus NA PE1 14 +NX_P52657 109 12457 6.26 0 Nucleoplasm;Nucleus NA PE1 15 +NX_P52701 1360 152786 6.5 0 Nucleus;Nucleoplasm;Nucleus;Chromosome;Golgi apparatus;Cytoplasmic vesicle Endometrial cancer;Mismatch repair cancer syndrome;Colorectal cancer;Hereditary non-polyposis colorectal cancer 5 PE1 2 +NX_P52732 1056 119159 5.47 0 Cytosol;Cytoplasm;Spindle pole Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation PE1 10 +NX_P52735 878 101289 6.67 0 Cytoplasmic vesicle NA PE1 9 +NX_P52736 654 73388 9.26 0 Nucleus;Nucleus;Cytoplasmic vesicle NA PE1 20 +NX_P52737 540 62784 9.32 0 Nucleus;Nucleolus NA PE1 19 +NX_P52738 457 52996 8.95 0 Nucleus NA PE1 12 +NX_P52739 623 71422 5.1 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 5 +NX_P52740 706 80623 8.77 0 Cytoskeleton;Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_P52741 427 48480 8.96 0 Nucleus;Nucleoplasm NA PE1 19 +NX_P52742 658 75261 8.49 0 Nucleus;Cytosol NA PE1 19 +NX_P52743 207 24115 9.77 0 Nucleus NA PE5 19 +NX_P52744 262 30592 9.63 0 Nucleus;Cytosol NA PE1 7 +NX_P52746 1687 187880 8.24 0 Nucleus;Nucleolus;Nucleus NA PE1 2 +NX_P52747 638 68896 5.64 0 Cytoplasmic vesicle;Nucleus;Nucleoplasm;Nucleus NA PE1 11 +NX_P52756 815 92154 5.94 0 Nucleoplasm;Nucleus NA PE1 3 +NX_P52757 468 53924 7.04 0 Membrane NA PE1 7 +NX_P52758 137 14494 8.73 0 Mitochondrion;Peroxisome;Cytoplasm;Nucleus NA PE1 8 +NX_P52788 366 41268 4.87 0 Cytoplasm;Nucleus;Cytosol X-linked syndromic mental retardation Snyder-Robinson type PE1 X +NX_P52789 917 102380 5.71 0 Mitochondrion;Mitochondrion outer membrane NA PE1 2 +NX_P52790 923 99025 5.23 0 NA NA PE1 5 +NX_P52797 238 26350 8.85 0 Cell membrane NA PE1 1 +NX_P52798 201 22386 6.89 0 Secreted;Cell membrane;Nucleus;Cytoplasmic vesicle NA PE1 1 +NX_P52799 333 36923 9.04 1 Cytosol;Nucleoplasm;Membrane NA PE1 13 +NX_P52803 228 26297 5.97 0 Cytoplasmic vesicle;Cell membrane;Caveola;Cytosol NA PE1 5 +NX_P52815 198 21348 9.05 0 Mitochondrion;Mitochondrion NA PE1 17 +NX_P52823 247 27621 8.28 0 Secreted NA PE1 8 +NX_P52824 942 101155 7.35 0 Cytoplasm;Cell membrane;Cytoskeleton;Nucleus;Nucleus speckle NA PE1 4 +NX_P52848 882 100868 8.07 1 Golgi apparatus membrane Mental retardation, autosomal recessive 46 PE1 5 +NX_P52849 883 100875 8.81 1 Cytosol;Golgi apparatus membrane NA PE1 10 +NX_P52888 689 78840 5.72 0 Cytoplasm;Cytosol NA PE1 19 +NX_P52895 323 36735 7.13 0 Cytoplasm 46,XY sex reversal 8 PE1 10 +NX_P52907 286 32923 5.45 0 Cytoskeleton;Cytoplasm;Cytoskeleton NA PE1 1 +NX_P52926 109 11832 10.63 0 Nucleus;Nucleus;Nucleus;Nucleolus NA PE1 12 +NX_P52943 208 22493 9.01 0 Cell membrane;Nucleus;Nucleolus NA PE1 14 +NX_P52945 283 30771 7.1 0 Cytosol;Nucleoplasm;Nucleus Maturity-onset diabetes of the young 4;Diabetes mellitus, non-insulin-dependent;Pancreatic agenesis 1 PE1 13 +NX_P52948 1817 197579 5.97 0 Nuclear pore complex;Nucleus membrane;Nucleoplasm;Cytoplasmic vesicle;Nucleoplasm NA PE1 11 +NX_P52951 348 37348 8.43 0 Nucleus;Nucleoplasm NA PE1 2 +NX_P52952 324 34918 9.46 0 Cytosol;Nucleus;Nucleoplasm Conotruncal heart malformations;Hypoplastic left heart syndrome 2;Ventricular septal defect 3;Atrial septal defect 7, with or without atrioventricular conduction defects;Tetralogy of Fallot;Hypothyroidism, congenital, non-goitrous, 5 PE1 5 +NX_P52954 281 30221 6.47 0 Nucleus;Nucleoplasm;Nucleus NA PE1 10 +NX_P52961 327 36335 8.53 0 Sarcoplasmic reticulum membrane NA PE2 11 +NX_P53004 296 33428 6.06 0 Cytoplasm;Cytosol Hyperbiliverdinemia PE1 7 +NX_P53007 311 34013 9.91 6 Mitochondrion inner membrane Combined D-2- and L-2-hydroxyglutaric aciduria PE1 22 +NX_P53041 499 56879 5.88 0 Cell membrane;Cytosol;Nucleus;Cytoplasm;Cytoplasmic vesicle NA PE1 19 +NX_P53350 603 68255 9.09 0 Centrosome;Spindle;Midbody;Nucleus;Kinetochore;Centrosome NA PE1 16 +NX_P53355 1430 160046 6.37 0 Cytoplasm;Cytoskeleton;Centrosome NA PE1 9 +NX_P53365 341 37856 5.72 0 Nucleus;Nucleolus;Golgi apparatus NA PE1 11 +NX_P53367 373 41738 6.24 0 Nucleus;Golgi apparatus;Cytoplasmic vesicle NA PE1 4 +NX_P53370 316 35679 8.15 0 Cytoplasm;Nucleus;Mitochondrion;Cytoskeleton NA PE1 4 +NX_P53384 320 34534 5.15 0 Cytosol;Microtubule organizing center;Centriole;Cytoplasm;Nucleus;Cell projection;Cilium axoneme;Cilium basal body;Centrosome NA PE1 16 +NX_P53396 1101 120839 6.95 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol NA PE1 17 +NX_P53420 1690 164038 8.9 0 Basement membrane Hematuria, benign familial;Alport syndrome, autosomal recessive PE1 2 +NX_P53539 338 35928 4.78 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_P53567 150 16408 9.77 0 Nucleoplasm;Nucleus NA PE1 19 +NX_P53582 386 43215 6.75 0 Cytoplasm;Nucleoplasm;Cell membrane;Cytosol NA PE1 4 +NX_P53597 346 36250 9.01 0 Cell membrane;Mitochondrion;Mitochondrion Mitochondrial DNA depletion syndrome 9 PE1 2 +NX_P53602 400 43405 6.8 0 Cytosol;Cell junction Porokeratosis 7, multiple types PE1 16 +NX_P53609 377 42368 6.37 0 Nucleoplasm;Cytosol;Endoplasmic reticulum NA PE1 5 +NX_P53611 331 36924 4.89 0 Cytoplasmic vesicle NA PE1 1 +NX_P53618 953 107142 5.72 0 Golgi apparatus;Golgi apparatus;Cytosol;Cytoplasmic vesicle;Cytoplasm;Golgi apparatus membrane;COPI-coated vesicle membrane;Cell membrane;Endoplasmic reticulum-Golgi intermediate compartment NA PE1 11 +NX_P53621 1224 138346 7.7 0 Cytosol;COPI-coated vesicle membrane;Secreted;Nucleoplasm;Cytoplasm;Golgi apparatus membrane;Golgi apparatus Autoimmune interstitial lung, joint, and kidney disease PE1 1 +NX_P53634 463 51854 6.53 0 Endoplasmic reticulum;Cytoplasmic vesicle;Lysosome Papillon-Lefevre syndrome;Periodontititis, aggressive, 1;Haim-Munk syndrome PE1 11 +NX_P53667 647 72585 6.53 0 Nucleus;Nucleus speckle;Cytosol;Cytoplasm;Lamellipodium NA PE1 7 +NX_P53671 638 72232 6.83 0 Endoplasmic reticulum;Cytoplasm;Nucleus;Nucleoplasm;Cytosol NA PE1 22 +NX_P53672 197 22096 5.94 0 NA Cataract 42 PE1 2 +NX_P53673 196 22374 5.83 0 NA Cataract 23, multiple types PE1 22 +NX_P53674 252 28023 8.59 0 NA Cataract 17, multiple types PE1 22 +NX_P53675 1640 187030 5.57 0 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Coated pit NA PE1 22 +NX_P53677 418 46977 7.15 0 Golgi apparatus;Cytoplasmic vesicle membrane NA PE1 8 +NX_P53680 142 17018 5.82 0 Cell membrane;Coated pit Hypocalciuric hypercalcemia, familial 3 PE1 19 +NX_P53701 268 30602 6.25 0 Mitochondrion;Mitochondrion inner membrane;Membrane Linear skin defects with multiple congenital anomalies 1 PE1 X +NX_P53708 1063 117474 5.37 1 Cell membrane;Membrane Renal hypodysplasia/aplasia 1 PE1 10 +NX_P53778 367 41940 5.98 0 Nucleus speckle;Cytoplasm;Nucleus;Mitochondrion;Cytosol NA PE1 22 +NX_P53779 464 52585 6.33 0 Nucleoplasm;Cytoplasm;Membrane;Mitochondrion;Nucleus NA PE1 4 +NX_P53794 718 79694 7.01 12 Cell membrane;Membrane;Cytosol NA PE1 21 +NX_P53801 180 20324 9.14 1 Golgi apparatus;Cell membrane;Cytoplasm;Nucleus membrane;Nucleus;Nucleoplasm;Nucleus;Cytoplasm;Membrane NA PE1 21 +NX_P53803 58 7004 9.27 0 Cytosol;Nucleolus;Nucleus;Nucleus NA PE1 8 +NX_P53804 2025 229869 7.53 0 Cytoplasm;Nucleus;Nucleolus;Nucleus;Cytosol NA PE1 21 +NX_P53805 252 28079 5.09 0 Cytosol NA PE1 21 +NX_P53814 917 99059 9.2 0 Nucleoplasm;Cytoskeleton;Cytoskeleton NA PE1 22 +NX_P53816 162 17937 7.76 1 Membrane;Peroxisome membrane;Cytoplasm;Perinuclear region NA PE1 11 +NX_P53985 500 53944 8.91 12 Cell membrane;Cell junction;Cell membrane Familial hyperinsulinemic hypoglycemia 7;Symptomatic deficiency in lactate transport;Monocarboxylate transporter 1 deficiency PE1 1 +NX_P53990 364 39751 5.22 0 Cytoplasmic vesicle;Nucleus envelope;Midbody;Centrosome;Cytoplasmic vesicle NA PE1 16 +NX_P53992 1094 118325 6.71 0 Golgi apparatus;Cytoplasm;Cytoplasmic vesicle;COPII-coated vesicle membrane;Endoplasmic reticulum membrane;Cytosol NA PE1 10 +NX_P53999 127 14395 9.6 0 Nucleus;Nucleus;Nucleolus NA PE1 5 +NX_P54098 1239 139562 6.46 0 Mitochondrion;Mitochondrion nucleoid Sensory ataxic neuropathy dysarthria and ophthalmoparesis;Mitochondrial DNA depletion syndrome 4A;Leigh syndrome;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1;Mitochondrial DNA depletion syndrome 4B;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1;Spinocerebellar ataxia with epilepsy PE1 15 +NX_P54105 237 26215 3.97 0 Nucleus;Cytosol;Cytoskeleton;Cytosol;Nucleus;Cytoskeleton NA PE1 11 +NX_P54107 249 28481 5.57 0 NA NA PE1 6 +NX_P54108 245 27630 8.09 0 Secreted NA PE1 6 +NX_P54132 1417 159000 7.33 0 Nucleus;Nucleus;Cytosol Bloom syndrome PE1 15 +NX_P54136 660 75379 6.26 0 Nucleoplasm;Cytosol;Cytoplasm;Cytosol Leukodystrophy, hypomyelinating, 9 PE1 5 +NX_P54198 1017 111835 8.4 0 Nucleoplasm;Nucleus;PML body NA PE1 22 +NX_P54219 525 56257 5.6 12 Synaptic vesicle membrane;Endoplasmic reticulum membrane;Cytoplasmic vesicle membrane NA PE1 8 +NX_P54252 364 41781 4.81 0 Cell membrane;Nucleus;Nucleolus;Nucleus matrix Spinocerebellar ataxia 3 PE1 14 +NX_P54253 815 86923 8.49 0 Nucleus;Cytoplasm;Cytosol;Nucleolus;Nucleus Spinocerebellar ataxia 1 PE1 6 +NX_P54257 671 75506 4.68 0 Endoplasmic reticulum;Cytoplasm;Axon;Nucleolus;Cytosol;Cytoskeleton;Lysosome;Synaptic vesicle;Mitochondrion;Nucleus;Autophagosome NA PE1 17 +NX_P54259 1190 125414 9.01 0 Nucleoplasm;Nucleus;Perinuclear region;Cell junction Dentatorubral-pallidoluysian atrophy PE1 12 +NX_P54274 439 50246 5.99 0 Spindle;Nucleus;Nucleolus;Nucleus;Telomere NA PE1 8 +NX_P54277 932 105830 6.23 0 Nucleoplasm;Nucleus;Nucleus NA PE1 2 +NX_P54278 862 95797 6.4 0 Nucleus Mismatch repair cancer syndrome;Hereditary non-polyposis colorectal cancer 4 PE1 7 +NX_P54284 484 54532 5.93 0 Cytoplasmic vesicle;Golgi apparatus NA PE1 12 +NX_P54289 1103 124568 5.12 1 Cytoplasm;Membrane NA PE1 7 +NX_P54296 1465 164896 5.82 0 Mitochondrion;M line NA PE1 8 +NX_P54315 467 51848 5.47 0 Secreted NA PE1 10 +NX_P54317 469 51947 5.27 0 Secreted NA PE1 10 +NX_P54368 228 25406 7.12 0 Cytoplasmic vesicle;Microtubule organizing center NA PE1 19 +NX_P54577 528 59143 6.61 0 Cytoplasm;Cytosol Charcot-Marie-Tooth disease, dominant, intermediate type, C PE1 1 +NX_P54578 494 56069 5.2 0 Cytosol;Cell membrane;Cytoplasm NA PE1 18 +NX_P54619 331 37579 6.42 0 Cytosol;Nucleoplasm NA PE1 12 +NX_P54646 552 62320 7.65 0 Cytoplasm;Nucleus;Nucleus speckle;Golgi apparatus NA PE1 1 +NX_P54652 639 70021 5.56 0 Spindle NA PE1 14 +NX_P54687 386 42966 5.17 0 Cytoplasm NA PE1 12 +NX_P54707 1039 115511 6.12 10 Membrane NA PE1 13 +NX_P54709 279 31513 8.58 1 Cell membrane;Melanosome;Cell membrane NA PE1 3 +NX_P54710 66 7283 7.88 1 Mitochondrion;Membrane Hypomagnesemia 2 PE1 11 +NX_P54725 363 39609 4.56 0 Nucleus;Cytosol;Nucleoplasm NA PE1 19 +NX_P54727 409 43171 4.79 0 Cytosol;Nucleus;Cytoplasm;Nucleoplasm NA PE1 9 +NX_P54750 535 61252 5.72 0 Cytoplasm;Nucleoplasm NA PE1 2 +NX_P54753 998 110330 5.95 1 Dendrite;Cell membrane NA PE1 3 +NX_P54756 1037 114803 6.53 1 Endoplasmic reticulum;Cell membrane;Dendrite;Axon NA PE1 4 +NX_P54760 987 108270 6.48 1 Cell membrane Hydrops fetalis, non-immune, and/or atrial septal defect PE1 7 +NX_P54762 984 109885 6.03 1 Cytosol;Endoplasmic reticulum;Cell membrane;Cell membrane;Early endosome membrane;Dendrite NA PE1 3 +NX_P54764 986 109860 6.21 1 Cell membrane;Axon;Dendrite;Postsynaptic density;Early endosome NA PE1 2 +NX_P54792 670 73254 6.02 0 Cytoplasm NA PE5 22 +NX_P54793 590 65940 6.78 0 Cytosol;Secreted NA PE1 X +NX_P54802 743 82266 6.2 0 Lysosome Charcot-Marie-Tooth disease 2V;Mucopolysaccharidosis 3B PE1 17 +NX_P54803 685 77063 6.17 0 Lysosome Leukodystrophy, globoid cell PE1 14 +NX_P54819 239 26478 7.67 0 Mitochondrion intermembrane space Reticular dysgenesis PE1 1 +NX_P54821 245 27296 9.48 0 Nucleus;Nucleolus;Nucleus;Nucleus Agnathia-otocephaly complex PE1 1 +NX_P54826 345 35693 5.35 0 Nucleus speckle;Cell membrane NA PE1 9 +NX_P54829 565 63538 4.82 2 Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 11 +NX_P54840 703 80989 6.35 0 NA Glycogen storage disease 0 PE1 12 +NX_P54845 237 25940 7.73 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus Retinitis pigmentosa 27;Retinal degeneration autosomal recessive clumped pigment type PE1 14 +NX_P54849 157 17563 8.18 4 Nucleoplasm;Membrane NA PE1 12 +NX_P54851 167 19199 7.55 4 Cytosol;Nucleoplasm;Apical cell membrane;Golgi apparatus membrane;Cell membrane;Membrane raft;Cytoplasm;Nucleus Nephrotic syndrome 10 PE1 16 +NX_P54852 163 18429 8.18 4 Cell membrane;Golgi apparatus;Nucleus;Membrane NA PE1 19 +NX_P54855 530 61036 8.98 1 Microsome membrane;Endoplasmic reticulum membrane NA PE1 4 +NX_P54868 508 56635 8.4 0 Mitochondrion;Mitochondrion 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency PE1 1 +NX_P54886 795 87302 6.66 0 Mitochondrion inner membrane;Mitochondrion Spastic paraplegia 9B, autosomal recessive;Cutis laxa, autosomal recessive, 3A;Spastic paraplegia 9A, autosomal dominant;Cutis laxa, autosomal dominant, 3 PE1 10 +NX_P54920 295 33233 5.23 0 Cell membrane NA PE1 19 +NX_P54922 357 39507 6.05 0 Nucleus;Nucleus membrane NA PE1 3 +NX_P55000 103 11186 5.21 0 Secreted Mal de Meleda PE1 8 +NX_P55001 183 20826 4.86 0 Extracellular matrix NA PE1 1 +NX_P55008 147 16703 5.97 0 Phagocytic cup;Ruffle membrane;Cytoskeleton NA PE1 6 +NX_P55010 431 49223 5.41 0 Cell membrane;Cytosol NA PE1 14 +NX_P55011 1212 131447 5.98 12 Cell membrane;Cytoplasmic vesicle;Membrane NA PE1 5 +NX_P55017 1021 113139 8.1 12 Cell membrane Gitelman syndrome PE1 16 +NX_P55036 377 40737 4.68 0 NA NA PE1 1 +NX_P55039 364 40746 9.02 0 Cytoplasmic vesicle;Nucleoplasm;Cytosol;Cytoplasm NA PE1 17 +NX_P55040 296 33949 8.77 0 Cell membrane NA PE1 8 +NX_P55042 308 33245 9.06 0 Golgi apparatus;Cell membrane;Cell membrane;Nucleoplasm NA PE1 16 +NX_P55055 460 50974 7.9 0 Nucleus;Nucleoplasm NA PE1 19 +NX_P55056 127 14553 9.19 0 Secreted NA PE1 19 +NX_P55058 493 54739 6.53 0 Secreted NA PE1 20 +NX_P55060 971 110417 5.51 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 20 +NX_P55061 237 26538 8.79 6 Endoplasmic reticulum membrane NA PE1 12 +NX_P55064 265 28292 8.82 6 Cell membrane;Apical cell membrane Keratoderma, palmoplantar, Bothnian type PE1 12 +NX_P55072 806 89322 5.14 0 Cytosol;Nucleus;Nucleoplasm;Cytosol;Endoplasmic reticulum Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1;Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;Charcot-Marie-Tooth disease 2Y PE1 9 +NX_P55073 304 33947 6.25 1 Cell membrane;Endosome membrane NA PE1 14 +NX_P55075 233 26525 10.44 0 Secreted Hypogonadotropic hypogonadism 6 with or without anosmia PE1 10 +NX_P55081 439 51958 4.95 0 Cell membrane;Cytosol;Nucleoplasm;Nucleus NA PE1 15 +NX_P55082 362 40165 4.87 1 Cell membrane;Nucleoplasm;Golgi apparatus NA PE1 5 +NX_P55083 255 28648 5.38 0 Endoplasmic reticulum;Extracellular matrix NA PE1 17 +NX_P55084 474 51294 9.45 0 Mitochondrion;Mitochondrion;Mitochondrion outer membrane;Mitochondrion inner membrane;Endoplasmic reticulum Mitochondrial trifunctional protein deficiency PE1 2 +NX_P55085 397 44126 9.66 7 Cell membrane;Cell membrane NA PE1 5 +NX_P55087 323 34830 7.59 6 Membrane;Cell membrane;Cell junction NA PE1 18 +NX_P55089 124 13458 11.7 0 Secreted;Endoplasmic reticulum NA PE1 2 +NX_P55103 352 38238 6.66 0 Secreted NA PE1 12 +NX_P55107 478 53122 9.58 0 Secreted NA PE1 10 +NX_P55145 182 20700 8.94 0 Endoplasmic reticulum;Secreted NA PE1 3 +NX_P55157 894 99351 8.61 0 Endoplasmic reticulum;Cytosol Abetalipoproteinemia PE1 4 +NX_P55160 1127 128153 6.39 1 Cell membrane;Cytosol;Cell membrane;Cytoplasm NA PE1 12 +NX_P55196 1824 206804 6.06 0 Cytoplasm;Cell membrane;Nucleoplasm;Cell junction;Adherens junction;Cell membrane NA PE1 6 +NX_P55197 1068 113320 8.49 0 Nucleus;Nucleoplasm NA PE1 10 +NX_P55198 1093 112076 8.93 0 Nucleus;Nucleus NA PE1 17 +NX_P55199 621 68265 9.43 0 Cajal body;Nucleus;Nucleus speckle NA PE1 19 +NX_P55201 1214 137499 8.16 0 Cell membrane;Cytosol;Nucleus;Cytoplasm Intellectual developmental disorder with dysmorphic facies and ptosis PE1 3 +NX_P55209 391 45374 4.36 0 Cytoplasm;Nucleus;Melanosome;Cytoskeleton NA PE1 12 +NX_P55210 303 34277 5.72 0 Cytoplasm NA PE1 10 +NX_P55211 416 46281 5.73 0 Mitochondrion NA PE1 1 +NX_P55212 293 33310 6.46 0 Cytoplasm;Nucleus;Cytosol NA PE1 4 +NX_P55259 537 59480 5.08 0 Cell membrane;Secreted NA PE1 16 +NX_P55263 362 40545 6.24 0 Cytosol;Nucleus;Cytoplasm;Nucleoplasm Hypermethioninemia due to adenosine kinase deficiency PE1 10 +NX_P55265 1226 136066 8.86 0 Cytoplasm;Nucleus;Nucleus;Nucleolus;Nucleolus Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria PE1 1 +NX_P55268 1798 195981 6.07 0 Basement membrane;Cytoplasmic vesicle;Cytosol Pierson syndrome;Nephrotic syndrome 5 with or without ocular abnormalities PE1 3 +NX_P55273 166 17700 5.69 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 19 +NX_P55283 916 100281 4.65 1 Cell membrane;Cell membrane NA PE1 20 +NX_P55285 790 88309 4.77 1 Cell membrane NA PE1 5 +NX_P55286 799 88253 4.55 1 Cell membrane;Cell membrane NA PE1 16 +NX_P55287 796 87965 4.75 1 Cell membrane NA PE1 16 +NX_P55289 794 88332 4.64 1 Cytoplasmic vesicle;Cell membrane NA PE1 5 +NX_P55290 713 78287 4.8 0 Cell membrane;Cell membrane NA PE1 16 +NX_P55291 814 88916 4.81 1 Golgi apparatus;Cell membrane;Cytosol Mental retardation, autosomal dominant 3 PE1 16 +NX_P55316 489 52352 8.99 0 Nucleus Rett syndrome congenital variant PE1 14 +NX_P55317 472 49148 8.93 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 14 +NX_P55318 350 37140 7.01 0 Nucleoplasm;Nucleus NA PE1 19 +NX_P55327 224 24327 4.79 0 Golgi apparatus;Cytosol NA PE1 8 +NX_P55344 173 19674 9.64 4 Membrane Cataract, multiple types 19 PE1 19 +NX_P55345 433 49042 5.03 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus;Nucleolus NA PE1 21 +NX_P55347 436 47607 4.79 0 Nucleus;Nucleoplasm NA PE1 21 +NX_P55735 322 35541 5.22 0 Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Nuclear pore complex;Nucleoplasm;COPII-coated vesicle membrane;Lysosome membrane;Endoplasmic reticulum membrane NA PE1 3 +NX_P55769 128 14174 8.72 0 Nucleolus;Nucleus;Nucleolus NA PE1 22 +NX_P55771 341 36310 9.39 0 Nucleoplasm;Nucleus;Mitochondrion Tooth agenesis, selective, 3 PE1 14 +NX_P55773 120 13411 9.21 0 Secreted NA PE1 17 +NX_P55774 89 9849 9.06 0 Secreted NA PE1 17 +NX_P55786 919 103276 5.49 0 Cytoplasm;Cytosol;Cytosol;Nucleus NA PE1 17 +NX_P55789 205 23449 7.57 0 Mitochondrion;Cytoplasm;Mitochondrion intermembrane space;Secreted;Cytosol Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay PE1 16 +NX_P55795 449 49264 5.89 0 Nucleoplasm Mental retardation, X-linked, syndromic, Bain type PE1 X +NX_P55808 180 19723 6.95 1 Cell membrane NA PE2 X +NX_P55809 520 56158 7.13 0 Mitochondrion matrix;Mitochondrion Succinyl-CoA:3-oxoacid CoA transferase deficiency PE1 5 +NX_P55822 239 26086 4.09 0 Cytosol;Cell membrane NA PE1 21 +NX_P55851 309 33229 9.74 6 Mitochondrion inner membrane NA PE1 11 +NX_P55854 103 11637 5.32 0 Cytoplasm;Nucleus;PML body NA PE1 21 +NX_P55884 814 92482 4.89 0 Cytosol;Nucleoplasm;Cytoplasm NA PE1 7 +NX_P55895 527 59241 5.56 0 Nucleus Omenn syndrome;Combined cellular and humoral immune defects with granulomas;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive PE1 11 +NX_P55899 365 39743 6.09 1 Cell membrane NA PE1 19 +NX_P55916 312 34216 9.31 6 Mitochondrion inner membrane;Cytosol;Cell membrane;Nucleoplasm Obesity PE1 11 +NX_P55957 195 21995 5.27 0 Cytosol;Mitochondrion membrane;Mitochondrion membrane;Cytoplasm;Mitochondrion membrane NA PE1 22 +NX_P56134 94 10918 9.7 1 Cytoplasm;Nucleoplasm;Mitochondrion;Mitochondrion inner membrane;Mitochondrion NA PE1 7 +NX_P56159 465 51456 8.3 0 Cell membrane;Nucleoplasm;Golgi apparatus NA PE1 10 +NX_P56177 255 27320 9.71 0 Cell junction;Nucleus;Nucleus;Cytoplasmic vesicle NA PE1 2 +NX_P56178 289 31540 9.31 0 Nucleus;Nucleus Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive PE1 7 +NX_P56179 175 19708 9.95 0 Nucleus;Nucleus NA PE1 7 +NX_P56180 551 64322 8.81 3 Membrane NA PE1 21 +NX_P56181 108 11941 9.72 0 Mitochondrion inner membrane;Mitochondrion NA PE1 21 +NX_P56182 461 52839 9.39 0 Nucleolus;Nucleolus NA PE1 21 +NX_P56192 900 101116 5.82 0 Cytosol;Cytosol Interstitial lung and liver disease;Charcot-Marie-Tooth disease 2U PE1 12 +NX_P56199 1179 130848 5.91 1 Endoplasmic reticulum;Membrane NA PE1 5 +NX_P56202 376 42120 7.14 0 NA NA PE1 11 +NX_P56211 112 12323 9.07 0 Cytoplasm NA PE1 15 +NX_P56270 477 48608 9.21 0 Nucleus;Nucleus NA PE1 16 +NX_P56277 68 7747 8.5 0 Nucleus;Mitochondrion;Mitochondrion;Cytoplasm NA PE1 X +NX_P56278 107 12600 5.07 0 Cell membrane;Nucleoplasm NA PE1 X +NX_P56279 114 13460 4.98 0 Endoplasmic reticulum;Cytoplasm;Nucleus;Microsome NA PE1 14 +NX_P56282 527 59537 5.95 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 14 +NX_P56373 397 44289 7.88 2 Membrane NA PE1 11 +NX_P56377 157 18615 5.39 0 Clathrin-coated pit;Cytoplasmic vesicle membrane;Golgi apparatus Pettigrew syndrome PE1 X +NX_P56378 58 6662 10.08 1 Cytoplasm;Mitochondrion;Mitochondrion;Mitochondrion membrane;Nucleolus NA PE1 14 +NX_P56381 51 5780 9.93 0 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex V deficiency, nuclear 3 PE1 20 +NX_P56385 69 7933 9.34 0 Mitochondrion;Mitochondrion inner membrane;Mitochondrion NA PE1 4 +NX_P56470 323 35941 9.21 0 NA NA PE1 19 +NX_P56524 1084 119040 6.49 0 Cytoplasm;Cytosol;Nucleoplasm;Nucleus Brachydactyly-mental retardation syndrome PE1 2 +NX_P56537 245 26599 4.56 0 Nucleoplasm;Cytoplasm;Nucleolus NA PE1 20 +NX_P56539 151 17259 5.5 0 Cell membrane;Cytoplasmic vesicle;Sarcolemma;Caveola;Cell membrane;Golgi apparatus membrane Cardiomyopathy, familial hypertrophic;Long QT syndrome 9;Limb-girdle muscular dystrophy 1C;HyperCKmia;Myopathy, distal, Tateyama type;Sudden infant death syndrome;Rippling muscle disease 2 PE1 3 +NX_P56545 445 48945 6.47 0 Nucleus;Synapse;Cytosol NA PE1 10 +NX_P56555 118 12955 7.76 0 NA NA PE2 21 +NX_P56556 154 17871 10.15 0 Mitochondrion inner membrane NA PE1 22 +NX_P56557 158 17936 5.23 4 Golgi apparatus;Nucleolus;Membrane NA PE1 21 +NX_P56559 192 21487 9.17 0 Cytosol;Cell membrane;Filopodium;Cell membrane;Cytoplasm NA PE1 2 +NX_P56589 373 42140 8.37 2 Nucleoplasm;Peroxisome membrane;Peroxisome Peroxisome biogenesis disorder 10A;Peroxisome biogenesis disorder 10B;Peroxisome biogenesis disorder complementation group 12 PE1 6 +NX_P56597 212 24236 5.89 0 Nucleoplasm;Nucleus NA PE1 5 +NX_P56645 1201 131888 6.44 0 Cytosol;Cytoplasm;Nucleus Advanced sleep phase syndrome, familial, 3 PE1 1 +NX_P56693 466 49911 6.19 0 Nucleoplasm;Mitochondrion outer membrane;Cytoplasm;Nucleus Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease;Waardenburg syndrome 2E;Waardenburg syndrome 4C PE1 22 +NX_P56696 695 77101 9.6 6 Basal cell membrane Deafness, autosomal dominant, 2A PE1 1 +NX_P56703 355 39645 7.47 0 Extracellular matrix Tetraamelia syndrome, autosomal recessive PE1 17 +NX_P56704 352 39365 8.52 0 Extracellular matrix NA PE1 1 +NX_P56705 351 39052 8.92 0 Cytoplasmic vesicle;Extracellular matrix Mullerian aplasia and hyperandrogenism;46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs PE1 1 +NX_P56706 349 39327 9.11 0 Extracellular matrix NA PE1 22 +NX_P56715 2156 240661 5.55 0 Cilium axoneme;Photoreceptor outer segment Retinitis pigmentosa 1 PE1 8 +NX_P56730 875 97067 8.41 0 Nucleus;Cytoskeleton;Secreted Mental retardation, autosomal recessive 1 PE1 4 +NX_P56746 228 24356 5.61 4 Cell membrane;Tight junction NA PE1 7 +NX_P56747 220 23292 8.32 4 Tight junction;Cell membrane NA PE1 16 +NX_P56748 225 24845 9 4 Cell membrane;Tight junction NA PE1 21 +NX_P56749 244 27110 8.8 4 Tight junction;Cell membrane NA PE1 7 +NX_P56750 224 24603 9.8 4 Tight junction;Cell membrane NA PE1 21 +NX_P56817 501 55764 5.31 1 Cell membrane;Membrane raft;Endosome;Membrane;trans-Golgi network;Endoplasmic reticulum;Cell surface;Cytoplasmic vesicle membrane NA PE1 11 +NX_P56851 147 17584 6.51 0 Secreted NA PE1 14 +NX_P56856 261 27856 8.39 4 Cell membrane;Tight junction NA PE1 3 +NX_P56880 219 23515 6.98 4 Tight junction;Cell membrane NA PE2 6 +NX_P56915 257 28150 8.86 0 Nucleus;Nucleus;Nucleus Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities PE1 14 +NX_P56937 341 38206 8.35 1 Cell membrane NA PE1 1 +NX_P56945 870 93372 5.41 0 Cytosol;Focal adhesion;Cytoplasm;Cell membrane NA PE1 16 +NX_P56962 302 33403 6.14 2 Cytosol;COPII-coated vesicle membrane;Cytosol;Endoplasmic reticulum membrane;Nucleolus;Smooth endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Autophagosome membrane NA PE1 9 +NX_P56975 720 77901 7.79 1 Cell membrane;Secreted;Cell membrane NA PE1 10 +NX_P57052 281 32179 8.87 0 Nucleus speckle;Nucleoplasm;Nucleoplasm NA PE1 21 +NX_P57053 126 13944 10.37 0 Nucleus;Chromosome NA PE1 21 +NX_P57054 158 18059 8.8 2 Membrane;Cytoplasmic vesicle Epileptic encephalopathy, early infantile, 55 PE1 21 +NX_P57055 190 20368 5.98 0 Nucleus NA PE1 21 +NX_P57057 533 57648 8.61 12 Nucleus;Endoplasmic reticulum membrane NA PE1 21 +NX_P57058 714 79686 9.24 0 Nucleoplasm;Cell membrane NA PE1 21 +NX_P57059 783 84902 6.81 0 Cytosol;Nucleus;Cytoplasm Epileptic encephalopathy, early infantile, 30 PE1 21 +NX_P57060 319 36332 5.61 0 NA NA PE1 21 +NX_P57071 1507 169269 8.59 0 Nucleoplasm;Nucleus;Nucleus NA PE1 21 +NX_P57073 446 47314 6.49 0 Nucleus;Nucleus NA PE1 16 +NX_P57075 661 74123 7.77 0 Cytoplasm;Nucleus NA PE1 21 +NX_P57076 290 33224 6.99 0 Cytoplasm;Cytoplasm;Cilium basal body;Cytoplasm Ciliary dyskinesia, primary, 26 PE1 21 +NX_P57077 242 27248 4.81 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 21 +NX_P57078 832 91611 6.69 0 Membrane;Cytoplasm Popliteal pterygium syndrome, lethal type PE1 21 +NX_P57081 412 45490 6.71 0 Nucleus;Nucleus;Cytosol NA PE1 21 +NX_P57082 545 60204 7.34 0 Cytoplasmic vesicle;Nucleus Ischiocoxopodopatellar syndrome PE1 17 +NX_P57086 179 19082 9.73 0 Nucleus;Cytosol;Nucleus;Cytoskeleton;Nucleus NA PE1 20 +NX_P57087 298 33207 9.23 1 Cytosol;Cell membrane;Tight junction NA PE1 21 +NX_P57088 247 27978 9.76 3 Nucleus envelope;Endoplasmic reticulum membrane;Melanosome NA PE1 4 +NX_P57103 927 103010 5.01 11 Endoplasmic reticulum membrane;Cell membrane;Perikaryon;Dendrite;Dendritic spine;Sarcolemma;Sarcoplasm;Cell junction;Mitochondrion outer membrane;Perinuclear region NA PE1 14 +NX_P57105 145 15928 5.86 1 Mitochondrion outer membrane;Mitochondrion NA PE1 14 +NX_P57678 1058 120037 5.7 0 Nucleus;Cytosol;Cytoplasm;Gem;Nucleolus;Nucleus NA PE1 17 +NX_P57679 992 111990 6.29 1 Nucleoplasm;Cilium membrane;Cilium;Cilium basal body;Cell membrane;Cytosol Acrofacial dysostosis, Weyers type;Ellis-van Creveld syndrome PE1 4 +NX_P57682 345 38829 9.44 0 Nucleoplasm;Nucleus NA PE1 4 +NX_P57721 371 39465 8.22 0 Cytoplasm NA PE1 21 +NX_P57723 403 41482 8.42 0 Cytosol;Cytoplasm NA PE1 3 +NX_P57727 454 49405 5.95 1 Endoplasmic reticulum membrane Deafness, autosomal recessive, 8 PE1 21 +NX_P57729 211 23712 7.65 0 Nucleus;Mitochondrion;Cell membrane;Melanosome;Phagosome;Phagosome membrane;Melanosome membrane NA PE1 11 +NX_P57730 90 10138 6.27 0 NA NA PE1 11 +NX_P57735 213 23496 5.72 0 Cytosol;Cytoplasmic vesicle;Pseudopodium membrane;Cell membrane;Cell junction NA PE1 1 +NX_P57737 925 100605 5.51 0 Cytoplasmic vesicle;Cytosol;trans-Golgi network;Golgi apparatus membrane NA PE1 16 +NX_P57738 103 11341 5.51 2 Cytosol;Membrane NA PE1 3 +NX_P57739 230 24549 8.47 4 Tight junction;Nucleoplasm;Cell junction;Cell membrane NA PE1 X +NX_P57740 925 106374 5.28 0 Nucleoplasm;Centrosome;Nucleus membrane;Nuclear pore complex;Kinetochore Ovarian dysgenesis 1;Nephrotic syndrome 11 PE1 12 +NX_P57764 484 52801 5 0 Cytosol;Inflammasome;Cell membrane;Nucleoplasm;Secreted NA PE1 8 +NX_P57768 344 39167 4.59 0 Early endosome membrane;Late endosome membrane;Cytoplasm;Lysosome;Cytoplasmic vesicle NA PE1 8 +NX_P57771 180 20917 9.36 0 Cell membrane;Membrane;Perikaryon;Nucleus;Dendrite NA PE1 1 +NX_P57772 596 65305 8.61 0 Nucleus;Cytosol;Nucleus;Cytoplasm;Nucleus NA PE1 3 +NX_P57773 515 58842 8.67 4 Cell membrane;Gap junction NA PE2 1 +NX_P57775 412 46337 7.54 0 Golgi apparatus Split-hand/foot malformation 3 PE1 10 +NX_P57789 538 59765 8.9 4 Membrane NA PE1 14 +NX_P57796 275 30433 5.27 0 Cytoplasm Cone-rod synaptic disorder, congenital non-progressive PE1 11 +NX_P58004 480 54494 5.57 0 Cytoplasm;Cytosol;Cytoplasm NA PE1 1 +NX_P58005 492 57291 5.84 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 11 +NX_P58012 376 38772 9.26 0 Cytoskeleton;Nucleus;Nucleus Premature ovarian failure 3;Blepharophimosis, ptosis, and epicanthus inversus syndrome PE1 3 +NX_P58062 85 9232 7.52 0 Secreted NA PE1 5 +NX_P58107 5090 555621 5.44 0 Hemidesmosome;Cell projection;Apicolateral cell membrane;Basolateral cell membrane;Cell junction;Cytoskeleton;Tight junction;Cytoskeleton NA PE1 8 +NX_P58166 350 38561 9.49 0 Cytoplasmic vesicle;Secreted NA PE1 12 +NX_P58170 312 35424 8.76 7 Cell membrane NA PE3 17 +NX_P58173 313 35414 8.64 7 Cell membrane NA PE2 6 +NX_P58180 307 34958 9.1 7 Cell membrane NA PE2 17 +NX_P58181 314 35535 8.87 7 Cell membrane NA PE2 11 +NX_P58182 307 34813 8.79 7 Cell membrane NA PE2 6 +NX_P58215 753 83166 6.4 0 Extracellular space;Cytoplasm;Nucleus NA PE1 2 +NX_P58294 105 11715 9.01 0 Secreted NA PE1 1 +NX_P58304 361 39411 7.11 0 Nucleus Microphthalmia, isolated, 2;Microphthalmia with cataracts and iris abnormalities;Microphthalmia, isolated, with coloboma, 3 PE1 14 +NX_P58317 390 44694 8.37 0 Centrosome;Nucleus;Nucleolus;Nucleoplasm NA PE1 19 +NX_P58335 489 53666 7.42 1 Secreted;Cell membrane;Endoplasmic reticulum membrane Hyaline fibromatosis syndrome PE1 4 +NX_P58340 268 30627 9.46 0 Cytoplasm;Cytosol;Nucleoplasm;Nucleus NA PE1 3 +NX_P58397 1594 177676 8.25 0 Extracellular matrix NA PE1 5 +NX_P58400 472 50424 8.19 1 Cell membrane;Synapse NA PE1 2 +NX_P58401 666 70927 5.96 1 Membrane NA PE1 11 +NX_P58417 271 31082 8.86 0 Secreted NA PE1 7 +NX_P58418 232 25719 8.8 4 Cell membrane Retinitis pigmentosa 61;Usher syndrome 3A PE1 3 +NX_P58499 235 25982 8.97 0 Secreted;Cytoplasmic vesicle NA PE1 21 +NX_P58505 322 35003 10.06 0 Nucleus;Nucleoplasm NA PE2 21 +NX_P58511 58 6886 9.87 1 Membrane;Focal adhesion NA PE1 21 +NX_P58512 204 21308 5.95 0 NA NA PE2 21 +NX_P58513 81 9586 9.89 0 NA NA PE5 21 +NX_P58546 118 12895 5.27 0 Cytoplasm;Nucleus;Perinuclear region;Cell membrane;Cytosol NA PE1 7 +NX_P58549 80 8524 8.5 1 Membrane NA PE1 19 +NX_P58550 94 10590 6.81 1 Membrane NA PE5 X +NX_P58557 167 19298 7.06 0 Nucleus;Nucleoplasm NA PE1 21 +NX_P58658 441 49483 6.52 1 Membrane NA PE1 21 +NX_P58743 744 81264 5.91 12 Cell membrane Deafness, autosomal recessive, 61 PE2 7 +NX_P58753 221 23883 7.56 0 Cytosol;Nucleoplasm;Membrane;Cell membrane;Cytoplasm;Cytoskeleton NA PE1 11 +NX_P58872 404 45245 7.25 7 Membrane NA PE1 17 +NX_P58876 126 13936 10.31 0 Chromosome;Nucleus NA PE1 6 +NX_P59020 149 16743 11.26 0 NA NA PE2 21 +NX_P59022 87 9286 5.35 0 NA NA PE1 21 +NX_P59025 263 30913 7.99 1 Cell membrane NA PE2 3 +NX_P59036 64 7298 11.56 0 NA NA PE5 21 +NX_P59037 77 8510 7.58 0 NA NA PE5 21 +NX_P59044 892 98768 8.43 0 Cytoplasm;Inflammasome;Cell membrane;Nucleus membrane NA PE1 11 +NX_P59045 1033 117779 7.98 0 NA NA PE1 19 +NX_P59046 1061 120173 6.59 0 Cytoplasm Familial cold autoinflammatory syndrome 2 PE1 19 +NX_P59047 1200 134342 6.08 0 Cytoplasm;Nucleolus;Mitochondrion NA PE1 19 +NX_P59051 145 16132 12.1 0 NA NA PE5 21 +NX_P59052 145 15706 9.21 0 NA NA PE5 21 +NX_P59074 171 19069 5.17 0 NA NA PE5 14 +NX_P59089 165 18635 11.68 0 NA NA PE5 21 +NX_P59090 65 7097 9.38 0 NA NA PE5 21 +NX_P59091 139 15087 9.9 0 NA NA PE5 21 +NX_P59095 220 25022 9.36 0 NA NA PE1 18 +NX_P59103 153 18108 8.73 0 Golgi apparatus Schizophrenia PE1 13 +NX_P59190 212 24391 5.53 0 Cell membrane;Cytoplasmic vesicle;Microtubule organizing center NA PE1 14 +NX_P59282 170 18503 9.07 0 Cytoplasm NA PE1 14 +NX_P59510 1910 214721 6.98 0 Extracellular matrix NA PE2 12 +NX_P59533 333 37892 9.6 7 Membrane NA PE2 7 +NX_P59534 338 38626 9.12 7 Membrane NA PE2 7 +NX_P59535 323 36812 9.95 7 Membrane NA PE2 7 +NX_P59536 307 35896 9.98 7 Membrane NA PE2 7 +NX_P59537 309 35599 10.05 7 Membrane;Cilium membrane NA PE2 12 +NX_P59538 309 35278 10.05 7 Membrane NA PE2 12 +NX_P59539 299 34278 10.06 7 Membrane NA PE2 12 +NX_P59540 309 35523 9.79 7 Membrane;Cilium membrane NA PE2 12 +NX_P59541 319 36874 10.12 7 Membrane NA PE2 12 +NX_P59542 299 33908 9.97 7 Membrane NA PE2 12 +NX_P59543 309 35358 10.06 7 Membrane NA PE2 12 +NX_P59544 299 34558 9.83 7 Membrane NA PE2 12 +NX_P59551 318 36337 9.94 7 Membrane NA PE2 7 +NX_P59646 89 9373 7.65 1 Membrane NA PE2 10 +NX_P59665 94 10201 6.54 0 Secreted NA PE1 8 +NX_P59666 94 10245 5.71 0 Secreted NA PE1 8 +NX_P59768 71 7850 7.78 0 Cell membrane;Cytoplasmic vesicle;Golgi apparatus NA PE1 14 +NX_P59773 190 21573 7.86 1 Membrane NA PE2 5 +NX_P59780 193 22017 5.11 0 Golgi apparatus;Cytoplasmic vesicle membrane NA PE1 15 +NX_P59796 221 24971 6.21 0 Secreted NA PE2 6 +NX_P59797 346 36800 9.68 0 NA NA PE1 19 +NX_P59817 542 60816 9.03 0 Nucleus;Nucleoplasm NA PE1 22 +NX_P59826 476 50342 6.27 0 Secreted;Cytoplasm NA PE2 20 +NX_P59827 614 65055 4.95 0 Secreted;Cytoplasm NA PE1 20 +NX_P59861 70 8199 7.59 0 Secreted NA PE1 4 +NX_P59894 354 39859 9.4 0 NA NA PE2 11 +NX_P59901 499 55165 8.29 1 Cell membrane NA PE1 19 +NX_P59910 316 36118 7.68 0 Flagellum Ciliary dyskinesia, primary, 34 PE1 11 +NX_P59922 312 35019 8.89 7 Cell membrane NA PE5 6 +NX_P59923 1031 118963 9.5 0 Cytosol;Mitochondrion;Nucleus;Nucleus NA PE1 3 +NX_P59942 119 13259 7.85 0 Mitochondrion NA PE2 6 +NX_P59990 96 9737 8.22 0 NA NA PE1 21 +NX_P59991 146 14689 8.17 0 NA NA PE1 21 +NX_P59998 168 19667 8.53 0 Cytoskeleton;Cell projection NA PE1 3 +NX_P60002 83 9462 8.24 0 Cytosol;Nucleus NA PE1 19 +NX_P60006 121 14281 3.47 0 Nucleus;Cytoplasm;Nucleoplasm;Cytoplasmic vesicle NA PE1 11 +NX_P60008 231 25632 10.95 0 Nucleus;Chromosome NA PE1 17 +NX_P60014 251 25571 7.35 0 NA NA PE1 21 +NX_P60022 68 7420 8.96 0 Membrane;Secreted NA PE1 8 +NX_P60033 236 25809 5.09 4 Basolateral cell membrane;Cell membrane Immunodeficiency, common variable, 6 PE1 11 +NX_P60059 68 7741 10.01 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 7 +NX_P60153 205 24307 6.18 0 Secreted NA PE1 14 +NX_P60174 286 30791 5.65 0 Nucleoplasm Triosephosphate isomerase deficiency PE1 12 +NX_P60201 277 30077 8.71 4 Myelin membrane;Cell membrane Leukodystrophy, hypomyelinating, 1;Spastic paraplegia 2, X-linked PE1 X +NX_P60228 445 52221 5.71 0 Nucleus;Cytosol;Cytoplasm;PML body NA PE1 8 +NX_P60321 138 15132 9.02 0 Perinuclear region;P-body;Cytoplasm NA PE1 19 +NX_P60323 173 18844 9.17 0 Nucleus;Golgi apparatus;Cytoplasm;Nucleolus;Cytoplasmic granule;Cytoplasm;P-body;Nucleus NA PE1 19 +NX_P60328 96 9947 8.02 0 NA NA PE1 21 +NX_P60329 112 11433 7.68 0 NA NA PE1 21 +NX_P60331 282 28660 7.77 0 NA NA PE2 21 +NX_P60368 255 25616 7.52 0 NA NA PE2 21 +NX_P60369 221 22348 7.99 0 NA NA PE2 21 +NX_P60370 271 27626 7.5 0 NA NA PE1 21 +NX_P60371 365 36791 6 0 NA NA PE1 21 +NX_P60372 401 40429 7.12 0 NA NA PE1 21 +NX_P60409 375 37816 7.16 0 NA NA PE1 21 +NX_P60410 259 26299 7.82 0 NA NA PE1 21 +NX_P60411 292 30037 7.87 0 NA NA PE1 21 +NX_P60412 298 30243 7.93 0 NA NA PE1 21 +NX_P60413 245 25107 7.94 0 NA NA PE1 21 +NX_P60468 96 9974 11.57 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA PE1 9 +NX_P60484 403 47166 5.94 0 Cytosol;Cytoplasm;Secreted;PML body;Nucleus;Nucleoplasm Lhermitte-Duclos disease;Prostate cancer;Macrocephaly/autism syndrome;Bannayan-Riley-Ruvalcaba syndrome;Cowden syndrome 1;Glioma 2;VACTERL association with hydrocephalus;Endometrial cancer;Squamous cell carcinoma of the head and neck PE1 10 +NX_P60507 584 65248 8.56 1 Cell membrane;Virion NA PE1 X +NX_P60508 538 59523 9.14 1 Virion;Cell membrane;Cell membrane NA PE1 6 +NX_P60509 514 58521 7.61 1 Cell membrane NA PE2 3 +NX_P60510 307 35080 4.91 0 Cytoplasm;Centrosome;Nucleus;Cell membrane;Cytosol;Nucleus NA PE1 16 +NX_P60520 117 13667 7.81 0 Nucleus;Cytoplasm;Nucleoplasm;Cytosol;Golgi apparatus;Autophagosome NA PE1 16 +NX_P60568 153 17628 7.67 0 Secreted NA PE1 4 +NX_P60602 79 8183 9.58 1 Cytoplasm;Mitochondrion inner membrane NA PE1 20 +NX_P60604 165 18566 4.62 0 NA NA PE1 21 +NX_P60606 82 9045 5.08 1 Cell junction;Nucleoplasm;Membrane;Cell membrane NA PE2 19 +NX_P60608 527 58319 8.65 0 Virion NA PE1 7 +NX_P60660 151 16930 4.56 0 NA NA PE1 12 +NX_P60673 137 14596 9.49 0 Nucleus;Cytoskeleton NA PE1 5 +NX_P60709 375 41737 5.29 0 Cytoskeleton Baraitser-Winter syndrome 1;Dystonia, juvenile-onset PE1 7 +NX_P60763 192 21379 8.43 0 Cytoplasm;Lamellipodium;Perinuclear region;Cell membrane;Cytoskeleton;Endomembrane system NA PE1 17 +NX_P60827 252 27685 9.7 0 Secreted NA PE1 16 +NX_P60842 406 46154 5.32 0 Nucleus;Cytoplasm NA PE1 17 +NX_P60852 638 70049 6.63 1 Extracellular matrix;Cell membrane Oocyte maturation defect 1 PE1 11 +NX_P60866 119 13373 9.95 0 Cytoplasm;Endoplasmic reticulum;Cytoplasm;Cytosol NA PE1 8 +NX_P60880 206 23315 4.66 0 Perinuclear region;Cell membrane;Synaptosome Myasthenic syndrome, congenital, 18 PE1 20 +NX_P60891 318 34834 6.51 0 NA Phosphoribosylpyrophosphate synthetase superactivity;Deafness, X-linked, 1;Charcot-Marie-Tooth disease, X-linked recessive, 5;ARTS syndrome PE1 X +NX_P60893 370 41995 9.75 7 Cell membrane;Golgi apparatus;Cell membrane;Endoplasmic reticulum NA PE1 7 +NX_P60896 70 8278 3.81 0 Cytoplasm;Nucleus;Cytosol NA PE1 7 +NX_P60900 246 27399 6.35 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA PE1 14 +NX_P60903 97 11203 6.82 0 Cytoplasm;Mitochondrion NA PE1 1 +NX_P60953 191 21259 6.16 0 Cytoskeleton;Cytoskeleton;Midbody;Cell membrane;Centrosome;Spindle Takenouchi-Kosaki syndrome PE1 1 +NX_P60981 165 18506 8.06 0 NA NA PE1 20 +NX_P60983 142 16713 5.19 0 NA NA PE1 14 +NX_P60985 99 11050 6.72 0 Secreted NA PE1 19 +NX_P61006 207 23668 9.15 0 Cell membrane;Phagosome;Cilium;Cell membrane;Cilium basal body;Nucleus;Golgi apparatus;Recycling endosome membrane;Phagosome membrane;Centriole NA PE1 19 +NX_P61009 180 20313 8.66 1 Endoplasmic reticulum;Microsome membrane;Endoplasmic reticulum membrane NA PE1 4 +NX_P61011 504 55705 8.87 0 Cytosol;Nucleolus;Cytoplasm;Nucleus speckle NA PE1 14 +NX_P61018 213 23587 5.8 0 Cell membrane NA PE1 19 +NX_P61019 212 23546 6.08 0 Endoplasmic reticulum-Golgi intermediate compartment membrane;Melanosome;Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE1 8 +NX_P61020 215 23707 8.29 0 Nucleus;Cytoplasm;Cytoplasmic vesicle;Cell membrane;Early endosome membrane;Melanosome NA PE1 12 +NX_P61024 79 9660 8.89 0 NA NA PE1 1 +NX_P61026 200 22541 8.58 0 Cytoplasmic vesicle membrane;Golgi apparatus membrane;trans-Golgi network membrane;Endosome membrane;Recycling endosome membrane;Phagosome membrane;Cilium;Endoplasmic reticulum membrane NA PE1 2 +NX_P61073 352 39746 8.46 7 Lysosome;Cell membrane;Cell junction;Early endosome;Late endosome WHIM syndrome PE1 2 +NX_P61077 147 16687 7.67 0 Cell membrane;Endosome membrane NA PE1 4 +NX_P61081 183 20900 7.57 0 Nucleus;Cytosol;Nucleus NA PE1 19 +NX_P61086 200 22407 5.33 0 Cytoplasm;Nucleus;Cytoplasm;Cytosol;Cytoskeleton NA PE1 4 +NX_P61088 152 17138 6.13 0 Cytoplasm;Nucleus;Nucleus;Cytoplasm NA PE1 12 +NX_P61106 215 23897 5.85 0 Nucleus;Cytoplasm;Cytoplasmic vesicle;trans-Golgi network membrane;Phagosome;Early endosome membrane;Golgi apparatus membrane;Recycling endosome NA PE1 9 +NX_P61129 1189 131670 7.31 0 NA NA PE1 2 +NX_P61158 418 47371 5.61 0 Cell projection;Cytoskeleton;Cytoplasm NA PE1 2 +NX_P61160 394 44761 6.29 0 Cytoplasm;Cell projection;Cytoskeleton;Cytosol NA PE1 2 +NX_P61163 376 42614 6.19 0 Cytoskeleton;Cell cortex;Cytoplasm;Centrosome NA PE1 10 +NX_P61165 79 9079 5.57 2 Cytosol;Cell membrane;Endoplasmic reticulum;Membrane NA PE1 11 +NX_P61201 443 51597 5.36 0 Cytoskeleton;Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 15 +NX_P61204 181 20601 6.84 0 Golgi apparatus;Perinuclear region NA PE1 12 +NX_P61218 127 14478 4.11 0 Nucleolus;Nucleus;Nucleolus;Nucleus;Nucleus NA PE1 22 +NX_P61221 599 67314 8.63 0 Cytosol;Cytoplasm;Mitochondrion NA PE1 4 +NX_P61224 184 20825 5.65 0 Nucleus;Cytoplasm;Cell membrane;Cell junction;Cytosol NA PE1 12 +NX_P61225 183 20504 4.73 0 Recycling endosome membrane NA PE1 3 +NX_P61236 119 13608 7.66 0 Nucleolus NA PE2 16 +NX_P61244 160 18275 5.88 0 Cytoplasmic vesicle;Golgi apparatus;Dendrite;Nucleus;Nucleoplasm Pheochromocytoma PE1 14 +NX_P61247 264 29945 9.75 0 Cytosol;Endoplasmic reticulum;Nucleolus;Cytoplasm;Nucleus NA PE1 4 +NX_P61254 145 17258 10.55 0 NA Diamond-Blackfan anemia 11 PE1 17 +NX_P61266 288 33245 5.25 1 Membrane;Nucleus;Centrosome;Spindle Generalized epilepsy with febrile seizures plus 9 PE1 16 +NX_P61278 116 12736 5.47 0 Secreted NA PE1 3 +NX_P61289 254 29506 5.69 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 17 +NX_P61296 217 23666 9.23 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA PE1 4 +NX_P61313 204 24146 11.62 0 Membrane Diamond-Blackfan anemia 12 PE1 3 +NX_P61326 146 17164 5.74 0 Cytoplasm;Nucleus;Nucleus;Nucleus speckle NA PE1 1 +NX_P61328 243 27399 9.98 0 Nucleoplasm;Cytosol;Nucleus Epileptic encephalopathy, early infantile, 47 PE1 3 +NX_P61353 136 15798 10.56 0 Cytoplasm;Nucleolus Diamond-Blackfan anemia 16 PE1 17 +NX_P61366 133 14722 9.62 0 Secreted NA PE1 3 +NX_P61371 349 39036 8.64 0 Nucleoplasm;Nucleus NA PE1 5 +NX_P61421 351 40329 4.89 0 Membrane NA PE1 16 +NX_P61457 104 12000 6.28 0 Nucleus;Cytoplasm;Cytosol;Nucleoplasm;Cytoplasm;Nucleus Hyperphenylalaninemia, BH4-deficient, D PE1 10 +NX_P61513 92 10275 10.44 0 NA NA PE1 2 +NX_P61550 626 68171 8.25 1 Cell membrane NA PE1 19 +NX_P61565 698 79236 9.22 1 Virion;Cell membrane;Cell membrane NA PE1 12 +NX_P61566 588 66585 8.23 1 Virion;Cell membrane;Cell membrane NA PE2 22 +NX_P61567 588 66649 8.55 1 Virion;Cell membrane NA PE2 1 +NX_P61568 191 21462 6.29 0 Virion NA PE5 1 +NX_P61570 661 74892 9 1 Cell membrane;Virion NA PE3 11 +NX_P61571 104 11722 10.39 0 Nucleolus;Cytoplasm NA PE1 12 +NX_P61572 105 11828 10.22 0 Cytoplasm;Nucleolus NA PE1 19 +NX_P61573 105 11828 10.22 0 Cytoplasm;Nucleolus NA PE1 6 +NX_P61574 105 11920 10.13 0 Cytoplasm;Nucleolus NA PE1 19 +NX_P61575 105 11844 10.22 0 Cytoplasm;Nucleolus NA PE1 8 +NX_P61576 105 11735 9.95 0 Cytoplasm;Nucleolus NA PE1 5 +NX_P61578 105 11808 10 0 Nucleolus;Cytoplasm NA PE1 10 +NX_P61579 105 11828 10.22 0 Nucleolus;Cytoplasm NA PE1 11 +NX_P61580 75 8892 9.91 0 Nucleus NA PE1 5 +NX_P61581 75 8893 9.74 0 Nucleus NA PE1 22 +NX_P61582 75 8820 9.58 0 Nucleus NA PE3 1 +NX_P61583 75 8907 9.66 0 Nucleus NA PE3 3 +NX_P61586 193 21768 5.83 0 Cytosol;Midbody;Cell cortex;Cleavage furrow;Cytoskeleton;Lamellipodium;Cell membrane NA PE1 3 +NX_P61587 244 27368 8.78 0 Golgi apparatus membrane NA PE1 2 +NX_P61599 178 20368 4.98 0 Nucleus;Cytoplasm;Nucleus;Cytosol;Cytoplasm NA PE1 20 +NX_P61601 193 22245 5.23 0 NA NA PE1 8 +NX_P61604 102 10932 8.89 0 Mitochondrion matrix NA PE1 2 +NX_P61619 476 52265 8.3 10 Endoplasmic reticulum membrane;Endoplasmic reticulum Familial juvenile hyperuricemic nephropathy 4 PE1 3 +NX_P61626 148 16537 9.38 0 Secreted Amyloidosis 8 PE1 12 +NX_P61647 398 44836 9.19 1 Golgi apparatus membrane;Endoplasmic reticulum NA PE1 10 +NX_P61758 197 22658 6.64 0 Nucleus;Cytoplasm;Cytosol;Cytoplasmic vesicle;Nucleus;Cytoplasm NA PE1 X +NX_P61764 594 67569 6.5 0 Cytosol;Cytosol;Membrane;Nucleoplasm Epileptic encephalopathy, early infantile, 4 PE1 9 +NX_P61769 119 13715 6.06 0 Golgi apparatus;Cell membrane;Golgi apparatus;Cell surface;Secreted;Cytosol Amyloidosis 8;Immunodeficiency 43 PE1 15 +NX_P61803 113 12497 6.52 3 Cytosol;Endoplasmic reticulum membrane NA PE1 14 +NX_P61812 414 47748 8.82 0 Secreted Loeys-Dietz syndrome 4 PE1 1 +NX_P61916 151 16570 7.57 0 Secreted;Endoplasmic reticulum;Lysosome Niemann-Pick disease C2 PE1 14 +NX_P61923 177 20198 4.69 0 Cytoplasm;Cell membrane;Golgi apparatus;Cytoplasm;Golgi apparatus membrane;COPI-coated vesicle membrane NA PE1 12 +NX_P61925 76 7989 4.45 0 NA NA PE1 8 +NX_P61927 97 11078 11.74 0 Nucleus;Cytoplasm;Nucleolus NA PE1 5 +NX_P61952 73 8481 5.47 0 Cell membrane;Cytoplasm;Cell membrane NA PE1 7 +NX_P61956 95 10871 5.32 0 Nucleus;PML body NA PE1 17 +NX_P61960 85 9118 9.36 0 Nucleus;Cytoplasm NA PE1 13 +NX_P61962 342 38926 5.27 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA PE1 17 +NX_P61964 334 36588 8.54 0 Nucleoplasm;Nucleus NA PE1 9 +NX_P61966 158 18733 5.6 0 Golgi apparatus;Cytoplasmic vesicle membrane;Clathrin-coated pit Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma PE1 7 +NX_P61968 165 17994 8.75 0 Nucleoplasm;Midbody ring NA PE1 1 +NX_P61970 127 14478 5.1 0 Nucleoplasm;Nucleus inner membrane;Nuclear pore complex;Cytoskeleton;Nucleus outer membrane;Cytosol NA PE1 16 +NX_P61978 463 50976 5.39 0 Nucleoplasm;Cytoplasm;Nucleoplasm;Podosome Au-Kline syndrome PE1 9 +NX_P61981 247 28303 4.8 0 Cytoplasm NA PE1 7 +NX_P62068 366 42442 6.39 0 Nucleolus NA PE1 4 +NX_P62070 204 23400 5.74 0 Cytosol;Nucleus;Cell membrane Ovarian cancer PE1 11 +NX_P62072 90 10333 5.89 0 Mitochondrion;Mitochondrion inner membrane NA PE1 11 +NX_P62079 268 30337 4.59 4 Cell membrane NA PE1 4 +NX_P62081 194 22127 10.09 0 Nucleus;Nucleolus;Endoplasmic reticulum;Cytosol;Centrosome Diamond-Blackfan anemia 8 PE1 2 +NX_P62136 330 37512 5.94 0 Cytosol;Nucleoplasm;Cell membrane;Nucleus;Cytoplasm;Nucleoplasm;Nucleolus NA PE1 11 +NX_P62140 327 37187 5.84 0 Cell membrane;Cytoplasm;Nucleus;Nucleus;Nucleoplasm;Nucleolus;Cytosol Noonan syndrome-like disorder with loose anagen hair 2 PE1 2 +NX_P62166 190 21879 4.71 0 Postsynaptic density;Cell membrane;Perinuclear region;Cytoplasm;Golgi apparatus;Cell membrane;Membrane NA PE1 9 +NX_P62191 440 49185 5.87 0 Cytoplasm;Nucleus;Cytosol;Nucleoplasm;Membrane;Cytoplasm;Nucleus NA PE1 14 +NX_P62195 406 45626 7.11 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 17 +NX_P62241 208 24205 10.32 0 Nucleus;Nucleolus;Endoplasmic reticulum;Cytosol;Cytoplasm;Membrane NA PE1 1 +NX_P62244 130 14840 10.14 0 Cytoplasm NA PE1 16 +NX_P62249 146 16445 10.21 0 Cytoplasm;Endoplasmic reticulum;Cytosol NA PE1 19 +NX_P62253 170 19509 5.2 0 Cytosol;Nucleoplasm NA PE1 17 +NX_P62256 183 20655 4.55 0 Mitochondrion NA PE1 7 +NX_P62258 255 29174 4.63 0 Cytosol;Nucleus;Cytoplasm;Melanosome NA PE1 17 +NX_P62263 151 16273 10.07 0 Cytosol;Endoplasmic reticulum NA PE1 5 +NX_P62266 143 15808 10.5 0 Endoplasmic reticulum;Cytosol Brachycephaly, trichomegaly, and developmental delay PE1 5 +NX_P62269 152 17719 10.99 0 Cytoplasm;Cytoplasm;Cytosol NA PE1 6 +NX_P62273 56 6677 10.16 0 Endoplasmic reticulum;Cytosol Diamond-Blackfan anemia 13 PE1 14 +NX_P62277 151 17222 10.53 0 Nucleolus;Nucleus NA PE1 11 +NX_P62280 158 18431 10.31 0 Cytosol;Nucleolus;Endoplasmic reticulum NA PE1 19 +NX_P62304 92 10804 9.46 0 Cytosol;Nucleus Hypotrichosis 11 PE1 1 +NX_P62306 86 9725 4.7 0 Nucleolus;Nucleus;Nucleus;Cytosol NA PE1 12 +NX_P62308 76 8496 8.98 0 Cytosol;Nucleus NA PE1 2 +NX_P62310 102 11845 4.58 0 Nucleus;Nucleus;Nucleus;Nucleolus NA PE1 3 +NX_P62312 80 9128 9.61 0 Cytoplasm;Nucleus;Cytoskeleton NA PE1 4 +NX_P62314 119 13282 11.56 0 Nucleus;Cytosol;Nucleus NA PE1 18 +NX_P62316 118 13527 9.92 0 Cytosol;Nucleus;Cytosol NA PE1 19 +NX_P62318 126 13916 10.33 0 Nucleoplasm;Cytosol;Cytosol;Nucleus;Nucleus NA PE1 22 +NX_P62324 171 19209 8.35 0 Cytosol;Nucleoplasm NA PE1 12 +NX_P62328 44 5053 5.02 0 Cytoskeleton;Cytoplasmic vesicle;Nucleoplasm;Cytosol NA PE1 X +NX_P62330 175 20082 9.04 0 Cleavage furrow;Ruffle;Cytosol;Endosome membrane;Recycling endosome membrane;Filopodium membrane;Golgi apparatus;Midbody ring;Cell membrane NA PE1 14 +NX_P62333 389 44173 7.09 0 Cytosol;Cell membrane;Nucleus;Cytoplasm;Nucleoplasm NA PE1 14 +NX_P62341 195 22324 8.79 1 Endoplasmic reticulum membrane NA PE1 3 +NX_P62380 186 20887 9.61 0 Cytoplasm;Nucleoplasm;Nucleus;Nucleolus NA PE1 6 +NX_P62424 266 29996 10.61 0 NA NA PE1 9 +NX_P62487 172 19294 5.33 0 Nucleus;Nucleoplasm NA PE1 11 +NX_P62491 216 24394 6.12 0 Golgi apparatus;Cell membrane;Cell membrane;Phagosome;Cleavage furrow;Recycling endosome membrane;Microtubule organizing center NA PE1 15 +NX_P62495 437 49031 5.51 0 Cytoplasm NA PE1 5 +NX_P62502 163 18045 4.84 0 Secreted NA PE1 9 +NX_P62508 458 51306 6.04 0 Nucleus;Nucleus NA PE1 1 +NX_P62633 177 19463 8 0 Cytosol;Nucleus;Cytoplasm;Endoplasmic reticulum Dystrophia myotonica 2 PE1 3 +NX_P62683 666 74000 8.86 0 Cell membrane NA PE1 12 +NX_P62684 666 74038 8.95 0 Cell membrane NA PE1 19 +NX_P62685 647 72181 8.88 0 Cell membrane NA PE1 8 +NX_P62699 121 13842 6.82 0 Nucleoplasm;Cytosol NA PE1 2 +NX_P62701 263 29598 10.16 0 Nucleolus;Nucleus;Cytoplasm NA PE1 X +NX_P62714 309 35575 5.21 0 Nucleoplasm;Cytoplasm;Nucleus;Centromere;Spindle pole NA PE1 8 +NX_P62736 377 42009 5.24 0 Cytoskeleton Moyamoya disease 5;Aortic aneurysm, familial thoracic 6;Multisystemic smooth muscle dysfunction syndrome PE1 10 +NX_P62745 196 22123 5.1 0 Late endosome membrane;Cell membrane;Nucleus;Cleavage furrow NA PE1 2 +NX_P62750 156 17695 10.44 0 Nucleolus;Nucleus;Nucleolus;Cytosol NA PE1 17 +NX_P62753 249 28681 10.85 0 Nucleus;Nucleolus;Endoplasmic reticulum;Cytosol NA PE1 9 +NX_P62760 191 22142 5.01 0 NA NA PE1 2 +NX_P62805 103 11367 11.36 0 Chromosome;Nucleus;Nucleoplasm NA PE1 6 +NX_P62807 126 13906 10.31 0 Nucleus;Chromosome NA PE1 6 +NX_P62820 205 22678 5.93 0 Endoplasmic reticulum;Endoplasmic reticulum;Cytosol;Membrane;Melanosome;Cytosol;Cytoplasm;Golgi apparatus;Endoplasmic reticulum;Early endosome NA PE1 2 +NX_P62826 216 24423 7.01 0 Nucleus;Nucleus;Nucleus envelope;Cytoplasm;Melanosome NA PE1 12 +NX_P62829 140 14865 10.51 0 Cytosol;Cytoplasm NA PE1 17 +NX_P62834 184 20987 6.39 0 Cell membrane;Cytoplasm;Perinuclear region;Cell junction;Early endosome NA PE1 1 +NX_P62837 147 16735 7.69 0 NA NA PE1 5 +NX_P62841 145 17040 10.39 0 Nucleolus;Nucleus;Cytoplasm;Cytosol;Endoplasmic reticulum NA PE1 19 +NX_P62847 133 15423 10.79 0 Nucleus;Cytosol;Endoplasmic reticulum;Nucleus Diamond-Blackfan anemia 3 PE1 10 +NX_P62851 125 13742 10.12 0 Cytoplasm;Endoplasmic reticulum;Cytosol NA PE1 11 +NX_P62854 115 13015 11.01 0 NA Diamond-Blackfan anemia 10 PE1 12 +NX_P62857 69 7841 10.7 0 Cytoplasm;Cytosol Diamond-Blackfan anemia 15, with mandibulofacial dysostosis PE1 19 +NX_P62861 59 6648 12.15 0 Nucleus;Nucleolus;Nucleolus;Endoplasmic reticulum;Cytosol NA PE1 11 +NX_P62873 340 37377 5.6 0 NA Mental retardation, autosomal dominant 42 PE1 1 +NX_P62875 67 7645 7.65 0 Nucleus;Nucleus NA PE1 11 +NX_P62877 108 12274 6.49 0 Cytoplasm;Nucleoplasm;Cytoplasm;Nucleus NA PE1 22 +NX_P62879 340 37331 5.6 0 Perinuclear region NA PE1 7 +NX_P62888 115 12784 9.65 0 Cytoplasm;Nucleolus;Cytosol;Endoplasmic reticulum NA PE1 8 +NX_P62891 51 6407 12.55 0 NA NA PE1 X +NX_P62899 125 14463 10.54 0 NA NA PE1 2 +NX_P62906 217 24831 9.94 0 Endoplasmic reticulum;Nucleolus;Cytosol NA PE1 6 +NX_P62910 135 15860 11.32 0 Cytoplasm;Endoplasmic reticulum;Cytosol NA PE1 3 +NX_P62913 178 20252 9.64 0 Cytoplasmic vesicle;Nucleolus;Cytoplasm Diamond-Blackfan anemia 7 PE1 1 +NX_P62917 257 28025 11.04 0 Nucleus;Cytoplasm;Nucleolus;Endoplasmic reticulum;Nucleolus;Cytoplasm;Cytosol NA PE1 8 +NX_P62937 165 18012 7.68 0 Cytoplasm;Cytoplasm;Secreted NA PE1 7 +NX_P62942 108 11951 7.89 0 Sarcoplasmic reticulum membrane;Cytosol NA PE1 20 +NX_P62945 25 3456 12.96 0 Nucleolus;Nucleus;Cytoplasm NA PE1 12 +NX_P62952 87 9876 6.21 2 Membrane;Nucleolus NA PE1 20 +NX_P62955 275 31003 6.65 4 Membrane NA PE1 19 +NX_P62979 156 17965 9.68 0 Nucleus;Nucleolus;Endoplasmic reticulum;Cytoplasm;Cytosol NA PE1 2 +NX_P62987 128 14728 9.87 0 Nucleus;Cytoplasm;Nucleoplasm;Cytoplasm;Cell membrane;Endoplasmic reticulum;Cytosol NA PE1 19 +NX_P62993 217 25206 5.89 0 Cytoplasm;Nucleus;Golgi apparatus;Endosome;Cytoplasm;Nucleus NA PE1 17 +NX_P62995 288 33666 11.25 0 Nucleus;Nucleoplasm;Nucleus NA PE1 3 +NX_P63000 192 21450 8.77 0 Cytoplasm;Cell membrane;Nucleus;Cytosol;Melanosome;Cytoplasm;Cell membrane;Nucleolus NA PE1 7 +NX_P63010 937 104553 5.22 0 Cell membrane;Coated pit;Cytoplasmic vesicle NA PE1 17 +NX_P63027 116 12663 7.84 1 Synaptic vesicle membrane;Synaptosome;Cell membrane NA PE1 17 +NX_P63092 394 45665 5.59 0 Cell membrane GNAS hyperfunction;McCune-Albright syndrome;Progressive osseous heteroplasia;Pituitary adenoma, growth hormone-secreting, 1;Albright hereditary osteodystrophy;Pseudohypoparathyroidism 1B;Pseudohypoparathyroidism 1A;Pseudohypoparathyroidism 1C;ACTH-independent macronodular adrenal hyperplasia 1 PE1 20 +NX_P63096 354 40361 5.69 0 Cell membrane;Golgi apparatus;Cell cortex;Nucleus;Cytoplasm;Cell membrane;Centrosome;Membrane NA PE1 7 +NX_P63098 170 19300 4.64 0 Cytoplasm;Cytosol;Cell membrane;Membrane;Sarcolemma NA PE1 2 +NX_P63104 245 27745 4.73 0 Melanosome;Cytoplasm NA PE1 8 +NX_P63119 156 17107 7.92 0 NA NA PE3 12 +NX_P63120 156 17107 7.92 0 NA NA PE3 19 +NX_P63121 156 17136 5.86 0 NA NA PE3 19 +NX_P63122 156 17206 8.56 0 NA NA PE3 8 +NX_P63123 156 17101 7.95 0 NA NA PE3 1 +NX_P63124 156 17121 5.86 0 NA NA PE3 5 +NX_P63125 156 17077 7.92 0 NA NA PE3 11 +NX_P63126 666 74005 9.02 0 Cell membrane NA PE1 6 +NX_P63127 156 17194 8.56 0 NA NA PE3 6 +NX_P63128 1117 123620 9.04 0 Cell membrane NA PE3 6 +NX_P63129 156 17139 7.92 0 NA NA PE3 22 +NX_P63130 666 74111 8.99 0 Cell membrane NA PE3 1 +NX_P63131 156 17078 5.86 0 NA NA PE3 1 +NX_P63132 956 107766 9.06 0 NA NA PE3 19 +NX_P63133 956 107703 9.11 0 NA NA PE3 8 +NX_P63135 1459 165184 9.09 0 NA NA PE3 1 +NX_P63136 954 107472 9.14 0 NA NA PE3 11 +NX_P63145 666 74040 8.99 0 Cell membrane NA PE1 22 +NX_P63146 152 17312 4.91 0 Nucleus;Cell membrane NA PE1 5 +NX_P63151 447 51692 5.82 0 NA NA PE1 8 +NX_P63162 240 24614 11.2 0 Nucleus NA PE1 15 +NX_P63165 101 11557 5.34 0 Nucleus;Nucleus membrane;Cytoplasm;Nucleus speckle;Nucleus;Nucleus membrane;Nucleolus;PML body;Cell membrane;Nucleus Non-syndromic orofacial cleft 10 PE1 2 +NX_P63167 89 10366 6.89 0 Nucleus;Mitochondrion;Cytoskeleton NA PE1 12 +NX_P63172 113 12452 5 0 Nucleoplasm;Spindle;Golgi apparatus;Cytoplasm NA PE1 6 +NX_P63173 70 8218 10.1 0 Endoplasmic reticulum;Cytosol NA PE1 17 +NX_P63208 163 18658 4.4 0 Cytosol;Nucleus NA PE1 5 +NX_P63211 74 8496 4.76 0 Cell membrane NA PE1 7 +NX_P63215 75 8305 7.65 0 Cell membrane NA PE1 11 +NX_P63218 68 7318 9.9 0 Cell membrane NA PE1 1 +NX_P63220 83 9111 8.68 0 Cytosol;Endoplasmic reticulum NA PE1 20 +NX_P63241 154 16832 5.07 0 Cytosol;Nucleoplasm;Endoplasmic reticulum membrane;Nuclear pore complex;Cytoplasm;Nucleus NA PE1 17 +NX_P63244 317 35077 7.6 0 Nucleus;Cell membrane;Cytoplasm;Cytosol;Cell membrane;Phagocytic cup;Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus;Perikaryon;Dendrite NA PE1 5 +NX_P63252 427 48288 5.47 2 Membrane;Membrane Long QT syndrome 7;Short QT syndrome 3;Atrial fibrillation, familial, 9 PE1 17 +NX_P63261 375 41793 5.31 0 Cytoplasm;Cytoskeleton Deafness, autosomal dominant, 20;Baraitser-Winter syndrome 2 PE1 17 +NX_P63267 376 41877 5.31 0 Cytoskeleton Visceral myopathy PE1 2 +NX_P63272 117 13193 8.29 0 Nucleus;Nucleus NA PE1 17 +NX_P63279 158 18007 8.87 0 Cytosol;Cytoplasm;Nucleus NA PE1 16 +NX_P63302 87 9448 9.3 0 Cytoplasm NA PE1 19 +NX_P63313 44 5026 5.31 0 Cytoskeleton NA PE1 2 +NX_P63316 161 18403 4.04 0 Mitochondrion;Cytoskeleton;Nucleoplasm Cardiomyopathy, familial hypertrophic 13;Cardiomyopathy, dilated 1Z PE1 3 +NX_P67775 309 35594 5.3 0 Cytoplasm;Nucleus;Centromere;Spindle pole NA PE1 5 +NX_P67809 324 35924 9.87 0 Nucleolus;Nucleus;Cytosol;Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytoplasmic granule;Secreted NA PE1 1 +NX_P67812 179 20625 9.48 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 15 +NX_P67870 215 24942 5.33 0 NA NA PE1 6 +NX_P67936 248 28522 4.67 0 Cytoplasm;Cytosol;Cytoskeleton;Cytoskeleton NA PE1 19 +NX_P68032 377 42019 5.23 0 Cytoskeleton;Cytoskeleton Cardiomyopathy, familial hypertrophic 11;Cardiomyopathy, dilated 1R;Atrial septal defect 5 PE1 15 +NX_P68036 154 17862 8.68 0 Cytoplasm;Nucleus;Nucleus;Cytoplasm;Nucleus;Cytosol NA PE1 22 +NX_P68104 462 50141 9.1 0 Cytoplasm;Cytoplasm;Nucleus;Cell membrane;Nucleolus NA PE1 6 +NX_P68106 108 11783 8.62 0 Cytoplasm;Sarcoplasmic reticulum NA PE1 2 +NX_P68133 377 42051 5.23 0 Cytoskeleton Myopathy, actin, congenital, with excess of thin myofilaments;Nemaline myopathy 3;Myopathy, congenital, with fiber-type disproportion;Myopathy, scapulohumeroperoneal PE1 1 +NX_P68363 451 50152 4.94 0 Cytoplasm;Cytoskeleton NA PE1 12 +NX_P68366 448 49924 4.95 0 Cytoskeleton Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia PE1 2 +NX_P68371 445 49831 4.79 0 Cytoplasm;Cytoskeleton NA PE1 9 +NX_P68400 391 45144 7.29 0 Nucleus Okur-Chung neurodevelopmental syndrome PE1 20 +NX_P68402 229 25569 5.57 0 Cytosol;Cell membrane;Nucleolus;Cytoplasm NA PE1 11 +NX_P68431 136 15404 11.13 0 Nucleus;Chromosome Glioma PE1 6 +NX_P68543 259 29278 5.91 0 Nucleus;Cytoplasm;Centrosome NA PE1 2 +NX_P68871 147 15998 6.74 0 Nucleus;Cytoplasm Beta-thalassemia, dominant, inclusion body type;Heinz body anemias;Beta-thalassemia;Sickle cell anemia PE1 11 +NX_P69849 1222 134134 5.44 1 Membrane NA PE3 16 +NX_P69891 147 16140 6.64 0 NA NA PE1 11 +NX_P69892 147 16126 6.64 0 NA Cyanosis transient neonatal PE1 11 +NX_P69905 142 15258 8.72 0 NA Hemoglobin H disease;Heinz body anemias;Alpha-thalassemia PE1 16 +NX_P78310 365 40030 7.49 1 Cell membrane;Adherens junction;Secreted;Cell membrane;Cell junction;Basolateral cell membrane;Tight junction NA PE1 21 +NX_P78312 1265 139988 6.04 0 Cytosol;Cell membrane NA PE1 4 +NX_P78314 561 62244 7.67 0 Cytoskeleton;Nucleus Cherubism PE1 4 +NX_P78316 857 97668 7.33 0 Nucleus;Nucleolus;Nucleolus NA PE1 4 +NX_P78317 190 21319 6.59 0 Nucleoplasm;Cytoplasm;Nucleus;PML body NA PE1 4 +NX_P78318 339 39222 5.26 0 Cytoplasm;Cytosol;Cytoskeleton Mental retardation, X-linked, syndromic, 28 PE1 X +NX_P78324 504 54967 6.51 1 Membrane NA PE1 20 +NX_P78325 824 88771 7.63 1 Membrane NA PE1 10 +NX_P78329 520 59853 6.6 0 Endoplasmic reticulum membrane;Microsome membrane Coumarin resistance PE1 19 +NX_P78330 225 25008 5.53 0 Cytosol Phosphoserine phosphatase deficiency PE1 7 +NX_P78332 1123 128644 5.93 0 Cytosol;Nucleus speckle;Nucleus NA PE1 3 +NX_P78333 572 63707 6.38 0 Cytosol;Nucleus;Cell membrane;Extracellular space NA PE1 13 +NX_P78334 506 57972 8.36 4 Cell membrane;Postsynaptic cell membrane NA PE2 X +NX_P78337 314 34128 9.13 0 Nucleus;Nucleolus Liebenberg syndrome;Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly PE1 5 +NX_P78344 907 102362 6.7 0 Cytosol NA PE1 11 +NX_P78345 283 31834 9.94 0 Nucleolus;Nucleolus NA PE1 10 +NX_P78346 268 29321 9.11 0 Cytoskeleton;Nucleolus;Nucleolus;Nucleus;Cytosol NA PE1 10 +NX_P78347 998 112416 6.09 0 Cytoplasm;Nucleus;Nucleoplasm NA PE1 7 +NX_P78348 528 59909 5.48 1 Cell membrane;Golgi apparatus;Cell membrane NA PE1 12 +NX_P78352 724 80495 5.58 0 Cytoplasmic vesicle;Cell membrane;Postsynaptic density;Axon;Synapse NA PE1 17 +NX_P78356 416 47378 6.9 0 Nucleoplasm;Endoplasmic reticulum membrane;Cell membrane;Nucleus;Cytoplasm NA PE1 17 +NX_P78357 1384 156267 6.61 1 Nucleoplasm;Paranodal septate junction;Membrane Lethal congenital contracture syndrome 7 PE1 17 +NX_P78358 180 17992 8.79 0 Cytoplasm NA PE1 X +NX_P78362 688 77527 4.87 0 Nucleus;Nucleus;Cytoplasm;Cytosol NA PE1 7 +NX_P78363 2273 255944 5.89 12 Membrane Stargardt disease 1;Macular degeneration, age-related, 2;Fundus flavimaculatus;Cone-rod dystrophy 3;Retinitis pigmentosa 19 PE1 1 +NX_P78364 1004 105534 9.17 0 Nucleus;Nucleus Microcephaly 11, primary, autosomal recessive PE1 12 +NX_P78367 333 34814 8.12 0 Nucleoplasm;Nucleus Spondylo-megaepiphyseal-metaphyseal dysplasia PE1 4 +NX_P78368 415 47457 9.16 0 Cytoplasm;Cytoplasmic vesicle NA PE1 19 +NX_P78369 228 24488 8.32 4 Tight junction;Cell membrane NA PE1 13 +NX_P78371 535 57488 6.01 0 Cytoplasm;Cytoplasm;Cytosol NA PE1 12 +NX_P78380 273 30959 6.94 1 Cell membrane;Membrane raft;Secreted;Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Cell membrane NA PE1 12 +NX_P78381 396 41307 9.98 10 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2M PE1 X +NX_P78382 337 36779 9.11 10 Golgi apparatus membrane Congenital disorder of glycosylation 2F PE1 6 +NX_P78383 322 35760 9.36 8 Cytoplasmic vesicle;Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus NA PE1 17 +NX_P78385 493 54195 5.54 0 NA Monilethrix PE1 12 +NX_P78386 507 55802 6.27 0 NA Ectodermal dysplasia 4, hair/nail type PE1 12 +NX_P78395 509 57890 6.44 0 Nucleus;Cell membrane NA PE1 22 +NX_P78396 465 52358 4.99 0 Cytoskeleton;Nucleoplasm;Nucleus;Nucleus NA PE1 13 +NX_P78406 368 40968 7.96 0 Spindle pole;Nucleolus;Cytoplasm;Nucleus;Nucleus NA PE1 20 +NX_P78410 334 36428 5.23 1 Cell membrane NA PE1 6 +NX_P78411 483 50361 6.03 0 Nucleus;Nucleus speckle;Cytoskeleton;Cytosol Hamamy syndrome PE1 16 +NX_P78412 446 48240 5.81 0 Nucleus;Mitochondrion;Nucleus NA PE2 16 +NX_P78413 519 54445 5.84 0 Nucleus;Nucleus;Cytoplasmic vesicle NA PE1 5 +NX_P78414 480 49621 5.78 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 5 +NX_P78415 501 52119 4.88 0 Cytoplasmic vesicle;Nucleus NA PE1 16 +NX_P78417 241 27566 6.24 0 Cytosol NA PE1 10 +NX_P78423 397 42203 6.08 1 Cell membrane;Secreted;Cell membrane NA PE1 16 +NX_P78424 691 73265 7.31 0 Nucleus Hereditary susceptibility to Wilms tumor 5 PE1 7 +NX_P78426 367 37849 9.46 0 Nucleoplasm;Nucleus NA PE1 4 +NX_P78504 1218 133799 5.7 1 Membrane;Cell membrane;Golgi apparatus Alagille syndrome 1;Tetralogy of Fallot PE1 20 +NX_P78508 379 42508 8.18 2 Membrane;Basolateral cell membrane Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance PE1 1 +NX_P78509 3460 388388 5.54 0 Focal adhesion;Cell membrane;Extracellular matrix Lissencephaly 2;Epilepsy, familial temporal lobe, 7 PE1 7 +NX_P78524 1137 126485 9.35 0 Nucleoplasm NA PE1 11 +NX_P78527 4128 469089 6.75 0 Nucleus;Nucleolus;Nucleoplasm Immunodeficiency 26 with or without neurologic abnormalities PE1 8 +NX_P78536 824 93021 5.5 1 Cytosol;Membrane Inflammatory skin and bowel disease, neonatal, 1 PE1 2 +NX_P78537 153 17263 9.37 0 Mitochondrion intermembrane space;Mitochondrion matrix;Cytosol;Lysosome membrane NA PE1 12 +NX_P78539 464 51572 8.98 0 Cell surface NA PE1 X +NX_P78540 354 38578 6 0 Mitochondrion;Mitochondrion NA PE1 14 +NX_P78543 158 17416 8.29 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 1 +NX_P78545 371 41454 5.52 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 1 +NX_P78549 312 34390 9.72 0 Nucleus;Mitochondrion Familial adenomatous polyposis 3 PE1 16 +NX_P78552 427 48760 5.7 1 Golgi apparatus;Nucleoplasm;Membrane NA PE1 X +NX_P78556 96 10762 9.21 0 Secreted NA PE1 2 +NX_P78559 2803 305485 4.85 0 Cytoskeleton;Cytosol NA PE1 15 +NX_P78560 199 22745 6.32 0 Cytosol;Nucleus;Cytoplasm;Nucleus Mental retardation, autosomal recessive 34, with variant lissencephaly PE1 12 +NX_P78562 749 86474 8.91 1 Membrane Hypophosphatemic rickets, X-linked dominant PE1 X +NX_P78563 741 80763 9.11 0 Cytosol;Nucleolus;Nucleus;Nucleoplasm NA PE1 21 +NX_P79483 266 29962 8.81 1 Cell membrane;Endoplasmic reticulum membrane;Endosome membrane;Lysosome membrane;Late endosome membrane;trans-Golgi network membrane NA PE1 6 +NX_P79522 188 20640 9.87 0 Nucleoplasm;Cytosol NA PE1 6 +NX_P80075 99 11246 9.47 0 Secreted NA PE1 17 +NX_P80098 99 11200 9.72 0 Secreted NA PE1 17 +NX_P80108 840 92336 5.91 0 Secreted NA PE1 6 +NX_P80162 114 11897 9.91 0 Secreted NA PE1 4 +NX_P80188 198 22588 9.02 0 Secreted NA PE1 9 +NX_P80192 1104 121895 5.63 0 Nucleolus;Nucleus NA PE1 14 +NX_P80217 286 31546 5.75 0 Nucleus;Cytosol;Nucleoplasm NA PE1 17 +NX_P80294 61 6039 8.49 0 NA NA PE1 16 +NX_P80297 61 6068 8.38 0 Nucleus;Cytoplasm NA PE1 16 +NX_P80303 420 50196 5.03 0 Nucleus envelope;Secreted;Golgi apparatus;Membrane;Cytoplasm;Secreted;Endoplasmic reticulum NA PE1 11 +NX_P80365 405 44127 9.42 0 Cytoplasmic vesicle;Microsome;Endoplasmic reticulum Apparent mineralocorticoid excess PE1 16 +NX_P80370 383 41300 5.43 1 Membrane;Golgi apparatus NA PE1 14 +NX_P80404 500 56439 8.17 0 Mitochondrion;Mitochondrion matrix GABA transaminase deficiency PE1 16 +NX_P80511 92 10575 5.83 0 Secreted;Cytoplasm;Cytoskeleton;Cell membrane NA PE1 1 +NX_P80723 227 22693 4.64 0 Cell membrane;Cell membrane;Growth cone NA PE1 5 +NX_P80748 117 12446 5.03 0 Secreted;Cell membrane NA PE1 22 +NX_P81133 766 85515 7.03 0 Nucleus speckle;Nucleus NA PE1 6 +NX_P81172 84 9408 9.24 0 Secreted Hemochromatosis 2B PE1 19 +NX_P81274 684 76662 5.97 0 Cytosol;Cytoplasm;Cell cortex;Spindle pole;Lateral cell membrane Chudley-McCullough syndrome PE1 1 +NX_P81277 87 9639 11.66 0 Secreted NA PE1 2 +NX_P81408 668 71355 8.87 4 Nucleoplasm;Membrane NA PE1 1 +NX_P81534 67 7697 10.15 0 Nucleus;Secreted NA PE1 8 +NX_P81605 110 11284 6.09 0 Secreted NA PE1 12 +NX_P81877 361 37828 6.16 0 Nucleoplasm;Nucleus NA PE1 5 +NX_P82094 1093 122842 4.88 0 Golgi apparatus;Golgi apparatus membrane;Nucleus;Cytoplasm NA PE1 3 +NX_P82251 487 53481 8.4 12 Apical cell membrane Cystinuria PE1 19 +NX_P82279 1406 154183 4.84 1 Cytoplasmic vesicle;Secreted;Apical cell membrane Leber congenital amaurosis 8;Pigmented paravenous chorioretinal atrophy;Retinitis pigmentosa 12 PE1 1 +NX_P82650 360 41280 7.7 0 Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 5 PE1 3 +NX_P82663 173 20116 8.99 0 Mitochondrion;Mitochondrion NA PE1 3 +NX_P82664 201 22999 7.78 0 Cytoskeleton;Mitochondrion;Mitochondrion NA PE1 6 +NX_P82673 323 36844 8.41 0 Cytosol;Mitochondrion;Mitochondrion NA PE1 12 +NX_P82675 430 48006 9.93 0 Mitochondrion;Mitochondrion NA PE1 2 +NX_P82909 103 11466 9.99 0 Mitochondrion;Mitochondrion NA PE1 5 +NX_P82912 194 20616 10.82 0 Mitochondrion;Mitochondrion NA PE1 15 +NX_P82914 257 29842 10.48 0 Mitochondrion;Mitochondrion NA PE1 1 +NX_P82921 87 10742 10.23 0 Mitochondrion;Mitochondrion NA PE1 1 +NX_P82930 218 25650 9.98 0 Mitochondrion;Mitochondrion NA PE1 16 +NX_P82932 125 14227 9.3 0 Mitochondrion;Mitochondrion NA PE1 21 +NX_P82933 396 45835 9.54 0 Nucleolus;Mitochondrion;Mitochondrion NA PE1 2 +NX_P82970 282 31525 4.5 0 Nucleus;Nucleus NA PE1 X +NX_P82979 210 23671 6.1 0 Nucleus;Nucleus;Nucleus speckle;Nucleus speckle NA PE1 12 +NX_P82980 135 15931 6.09 0 Golgi apparatus;Cytoplasmic vesicle;Cytoplasm NA PE1 12 +NX_P82987 1691 188692 8.2 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 15 +NX_P83105 476 50979 8.37 0 Secreted NA PE1 8 +NX_P83110 453 48608 6.71 0 Cytoplasmic vesicle;Secreted NA PE1 4 +NX_P83111 547 60694 8.71 0 Mitochondrion;Mitochondrion NA PE1 15 +NX_P83369 360 39500 10.99 0 Nucleus;Nucleus;Nucleus NA PE1 5 +NX_P83436 770 86344 5.27 0 Golgi apparatus;Golgi apparatus membrane Congenital disorder of glycosylation 2E PE1 16 +NX_P83731 157 17779 11.26 0 Cytoplasm;Endoplasmic reticulum;Cytosol NA PE1 3 +NX_P83859 136 14941 10.25 0 Secreted NA PE2 9 +NX_P83876 142 16786 5.53 0 Nucleus membrane;Nucleus;Nucleus;Cytosol Burn-McKeown syndrome PE1 18 +NX_P83881 106 12441 10.59 0 Cytoplasm;Cytoplasm NA PE1 X +NX_P83916 185 21418 4.85 0 Nucleus;Nucleus;Nucleus NA PE1 17 +NX_P84022 425 48081 6.73 0 Nucleus;Cytoplasm;Cytosol;Cytoplasm;Nucleus;Nucleoplasm Colorectal cancer;Loeys-Dietz syndrome 3 PE1 15 +NX_P84074 193 22427 4.87 0 Cytosol;Membrane Dystonia 2, torsion, autosomal recessive PE1 1 +NX_P84077 181 20697 6.31 0 Cytosol;Cell membrane;Golgi apparatus;Perinuclear region;Synaptosome;Postsynaptic density;Membrane NA PE1 1 +NX_P84085 180 20530 6.3 0 Membrane;Golgi apparatus;Perinuclear region NA PE1 7 +NX_P84090 104 12259 5.62 0 Nucleus;Cytosol;Nucleoplasm NA PE1 14 +NX_P84095 191 21309 8.41 0 Cell membrane NA PE1 11 +NX_P84098 196 23466 11.48 0 Endoplasmic reticulum;Cytosol;Nucleolus NA PE1 17 +NX_P84101 59 6900 10.44 0 Cytoplasm;Nucleus;Nucleus;Nucleolus NA PE1 15 +NX_P84103 164 19330 11.64 0 Nucleus;Nucleoplasm;Nucleus speckle;Cytoplasm NA PE1 6 +NX_P84157 204 21466 4.24 1 Nucleus;Endoplasmic reticulum;Membrane NA PE1 17 +NX_P84243 136 15328 11.27 0 Nucleus;Nucleus;Chromosome;Nucleoplasm Glioma PE1 17 +NX_P84550 965 99831 6.11 0 Nucleus NA PE1 15 +NX_P84996 626 67948 11.55 0 Cell membrane;Ruffle Colorectal cancer;Pseudohypoparathyroidism 1B;GNAS hyperfunction;ACTH-independent macronodular adrenal hyperplasia 1 PE1 20 +NX_P85037 733 75457 9.41 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 7 +NX_P85298 464 53484 9.45 0 Nucleus NA PE1 22 +NX_P85299 388 42753 8.31 0 NA NA PE1 22 +NX_P86397 168 18559 9.1 0 Nucleolus;Mitochondrion;Mitochondrion NA PE1 3 +NX_P86434 159 17238 6.18 0 NA NA PE5 22 +NX_P86452 979 109973 6.09 0 Microtubule organizing center;Nucleus;Nucleoplasm;Nucleolus NA PE1 1 +NX_P86478 221 23262 5.85 0 NA NA PE1 13 +NX_P86479 221 23262 5.85 0 NA NA PE1 13 +NX_P86480 221 23262 5.85 0 NA NA PE1 13 +NX_P86481 221 23262 5.85 0 NA NA PE4 13 +NX_P86496 221 23262 5.85 0 NA NA PE2 13 +NX_P86790 482 55866 6.07 0 Lysosome membrane NA PE1 7 +NX_P86791 482 55866 6.07 0 Lysosome membrane NA PE1 7 +NX_P87889 666 74139 8.95 0 Cell membrane NA PE1 5 +NX_P98066 277 31203 6.3 0 NA NA PE1 2 +NX_P98073 1019 112935 4.89 1 Membrane Enterokinase deficiency PE1 21 +NX_P98077 582 61916 6.29 0 Cytosol NA PE1 19 +NX_P98082 770 82448 5.34 0 Cell membrane;Cytoplasmic vesicle;Nucleolus;Cytoplasm;Clathrin-coated vesicle membrane;Clathrin-coated pit NA PE1 5 +NX_P98088 5654 585570 6.71 0 Cytoplasmic vesicle;Secreted NA PE1 11 +NX_P98095 1184 126573 4.73 0 Cell membrane;Extracellular matrix NA PE1 3 +NX_P98153 550 60811 5.11 1 Nucleus;Nucleoplasm;Membrane NA PE1 22 +NX_P98155 873 96098 4.62 1 Microtubule organizing center;Clathrin-coated pit;Cytoskeleton;Cytoplasmic vesicle;Membrane Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 PE1 9 +NX_P98160 4391 468830 6.06 0 Cytosol;Nucleoplasm;Basement membrane;Cell membrane Dyssegmental dysplasia Silverman-Handmaker type;Schwartz-Jampel syndrome PE1 1 +NX_P98161 4303 462529 6.28 11 Cilium;Cell membrane Polycystic kidney disease 1 PE1 16 +NX_P98164 4655 521958 4.89 1 Mitochondrion;Apical cell membrane;Coated pit;Dendrite;Axon;Endosome lumen;Cytoplasmic vesicle Donnai-Barrow syndrome PE1 2 +NX_P98168 799 84771 7.35 0 Nucleus NA PE1 X +NX_P98169 803 84792 6.46 0 Nucleus NA PE1 X +NX_P98170 497 56685 6.22 0 Cell membrane;Cytosol;Cytoplasm;Nucleus;Nucleoplasm Lymphoproliferative syndrome, X-linked, 2 PE1 X +NX_P98171 946 105026 5.96 0 Cytoplasm;Nucleoplasm;Focal adhesion;Cytoplasm NA PE1 X +NX_P98172 346 38007 9.1 1 Cell membrane;Membrane Craniofrontonasal syndrome PE1 X +NX_P98173 230 25152 8.9 0 Endoplasmic reticulum;Nucleolus;Nucleus;Secreted NA PE1 X +NX_P98174 961 106561 6.14 0 Cell membrane;Cytosol;Cytoplasm;Lamellipodium;Ruffle;Cytoskeleton Aarskog-Scott syndrome PE1 X +NX_P98175 930 103533 5.69 0 Nucleus speckle;Nucleus TARP syndrome PE1 X +NX_P98177 505 53684 5.13 0 Cytosol;Nucleus speckle;Nucleus;Cytoplasm NA PE1 X +NX_P98179 157 17170 8.86 0 Nucleus;Cytoplasm;Dendrite;Nucleoplasm NA PE1 X +NX_P98182 395 45534 8.64 0 Nucleus;Mitochondrion NA PE1 16 +NX_P98187 520 59995 8.73 1 Endoplasmic reticulum membrane;Microsome membrane NA PE1 19 +NX_P98194 919 100577 6.34 10 Golgi apparatus;Golgi apparatus membrane Hailey-Hailey disease PE1 3 +NX_P98196 1134 129756 6.17 10 Cell membrane;Cytoplasmic vesicle;Early endosome;Recycling endosome;Endoplasmic reticulum NA PE1 13 +NX_P98198 1209 137440 6.57 10 Cell membrane;Endoplasmic reticulum membrane;Golgi apparatus;Cytoplasmic vesicle;Cytosol NA PE1 1 +NX_P99999 105 11749 9.59 0 Nucleus;Mitochondrion intermembrane space;Mitochondrion Thrombocytopenia 4 PE1 7 +NX_Q00005 443 51710 6.01 0 Cytoplasm;Cytoskeleton;Membrane;Mitochondrion;Mitochondrion outer membrane Spinocerebellar ataxia 12 PE1 5 +NX_Q00013 466 52296 6.91 0 Nucleus;Cytoplasm;Cytosol;Nucleolus;Nucleus speckle;Stereocilium;Membrane NA PE1 X +NX_Q00056 320 34499 9.95 0 Nucleus;Nucleus NA PE1 7 +NX_Q00059 246 29097 9.74 0 Mitochondrion;Mitochondrion;Mitochondrion nucleoid;Mitochondrion Mitochondrial DNA depletion syndrome 15, hepatocerebral type PE1 10 +NX_Q00169 270 31806 6.12 0 Cytoplasm NA PE1 17 +NX_Q00266 395 43648 5.86 0 NA Methionine adenosyltransferase deficiency PE1 10 +NX_Q00325 362 40095 9.45 6 Mitochondrion inner membrane;Mitochondrion Mitochondrial phosphate carrier deficiency PE1 12 +NX_Q00341 1268 141456 6.43 0 Cytoplasm;Nucleus;Cytosol NA PE1 2 +NX_Q00403 316 34833 8.67 0 Nucleus;Nucleus;Nucleus NA PE1 1 +NX_Q00444 222 24976 9.57 0 Nucleus;Nucleoplasm NA PE1 12 +NX_Q00526 305 35046 8.86 0 Cytosol NA PE1 17 +NX_Q00532 357 41671 9.04 0 Nucleoplasm;Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 14 +NX_Q00534 326 36938 6.02 0 Ruffle;Cytosol;Nucleoplasm;Nucleus;Cytoplasm;Centrosome Microcephaly 12, primary, autosomal recessive PE1 7 +NX_Q00535 292 33304 7.57 0 Cell membrane;Cytosol;Cell junction;Nucleus;Nucleus;Postsynaptic density;Growth cone;Cytoplasm;Cell membrane;Lamellipodium;Perikaryon Lissencephaly 7, with cerebellar hypoplasia PE1 7 +NX_Q00536 496 55716 7.23 0 Cell membrane;Cytosol;Cytoskeleton;Cytoplasm;Synaptosome;Secretory vesicle;Cell membrane NA PE1 X +NX_Q00537 523 59582 9.1 0 Nucleoplasm;Cytosol NA PE1 12 +NX_Q00577 322 34911 6.07 0 Nucleus Mental retardation, autosomal dominant 31 PE1 5 +NX_Q00587 391 40295 6.64 0 Endomembrane system;Cytoskeleton;Cell membrane;Cytoskeleton NA PE1 22 +NX_Q00597 558 63429 5.77 0 Nucleoplasm;Nucleus;Cytoplasm Fanconi anemia complementation group C PE1 9 +NX_Q00604 133 15044 9.17 0 Nucleus;Secreted;Nucleolus;Cytoplasmic vesicle Vitreoretinopathy, exudative 2;Norrie disease PE1 X +NX_Q00610 1675 191615 5.48 0 Endosome;Lysosome;Spindle;Melanosome;Coated pit;Cytoplasmic vesicle membrane NA PE1 17 +NX_Q00613 529 57260 5.02 0 Nucleus;Cytosol;Cytoplasm;Kinetochore;Centrosome;Spindle pole;Perinuclear region;Nucleoplasm;Nucleoplasm NA PE1 8 +NX_Q00653 900 96749 5.84 0 Nucleus;Cytoplasm;Nucleoplasm;Cytosol Immunodeficiency, common variable, 10 PE1 10 +NX_Q00688 224 25177 9.29 0 Nucleus;Cytosol NA PE1 14 +NX_Q00722 1185 134024 5.96 0 Cytosol NA PE1 15 +NX_Q00765 189 21493 8.25 2 Endoplasmic reticulum;Membrane;Endoplasmic reticulum NA PE1 5 +NX_Q00796 357 38325 8.23 0 Mitochondrion membrane;Cytosol;Flagellum NA PE1 15 +NX_Q00839 825 90584 5.76 0 Nucleus;Spindle;Midbody;Cytoplasm;Cell surface;Cytoplasmic granule;Nucleoplasm;Spindle pole;Chromosome;Nucleus matrix;Nucleus speckle;Centrosome;Kinetochore Epileptic encephalopathy, early infantile, 54 PE1 1 +NX_Q00872 1141 128294 5.78 0 Cytoplasm Lethal congenital contracture syndrome 4;Arthrogryposis, distal, 1B PE1 12 +NX_Q00887 426 48272 8.27 0 Secreted NA PE1 19 +NX_Q00888 419 47113 9.34 0 Secreted NA PE1 19 +NX_Q00889 435 48814 8.86 0 Secreted NA PE1 19 +NX_Q008S8 904 104880 8.65 0 NA NA PE2 6 +NX_Q00973 533 58882 8.93 1 Golgi apparatus membrane Spastic paraplegia 26, autosomal recessive PE1 12 +NX_Q00975 2339 262496 8.78 24 Membrane Dystonia 23 PE1 9 +NX_Q00978 393 43696 5.58 0 Cytosol;Cytoplasm;Nucleus NA PE1 14 +NX_Q00987 491 55233 4.6 0 Nucleus;Nucleolus;Cytoplasm;Nucleoplasm NA PE1 12 +NX_Q00994 111 12958 5.31 0 Nucleus;Cytoplasm;Cytosol NA PE1 X +NX_Q00G26 463 50791 5.08 0 Mitochondrion;Cytoplasm;Lipid droplet NA PE1 19 +NX_Q00LT1 54 6007 7.96 0 Secreted;Cytoplasm;Golgi apparatus;Endoplasmic reticulum Retinitis pigmentosa 36 PE1 17 +NX_Q01064 536 61380 5.33 0 Nucleus;Cytosol;Cytoplasm NA PE1 12 +NX_Q01081 240 27872 9.09 0 Nucleus;Nucleus;Nucleus speckle NA PE1 21 +NX_Q01082 2364 274609 5.39 0 Cytoplasm;Cell membrane;Cytoskeleton;Golgi apparatus;M line;Cell membrane NA PE1 2 +NX_Q01085 375 41591 7.62 0 Cytoplasmic vesicle;Nucleus;Cytoplasm;Nucleus;Cytoplasmic granule NA PE1 10 +NX_Q01094 437 46920 4.79 0 Nucleus;Nucleoplasm;Centrosome NA PE1 20 +NX_Q01101 510 52923 9.19 0 Nucleus NA PE1 20 +NX_Q01105 290 33489 4.23 0 Nucleus;Cytosol;Endoplasmic reticulum;Nucleoplasm NA PE1 9 +NX_Q01113 521 57147 5.27 1 Cell membrane;Secreted NA PE1 X +NX_Q01118 1682 193493 8.26 24 Cell membrane NA PE1 2 +NX_Q01130 221 25476 11.86 0 Nucleus;Nucleoplasm;Nucleus speckle NA PE1 17 +NX_Q01151 205 23042 8.45 1 Cytoplasmic vesicle;Membrane NA PE1 6 +NX_Q01167 660 69062 9.56 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 17 +NX_Q01196 453 48737 9.4 0 Cytoplasmic vesicle;Nucleus;Nucleoplasm Familial platelet disorder with associated myeloid malignancy PE1 21 +NX_Q01201 579 62134 5.84 0 Cytosol;Centrosome;Nucleus;Nucleoplasm Immunodeficiency 53 PE1 19 +NX_Q01344 420 47685 5.36 1 Membrane NA PE1 3 +NX_Q01362 244 26534 5.05 4 Membrane NA PE1 11 +NX_Q01415 458 50378 6.19 0 Cytosol;Nucleoplasm NA PE1 15 +NX_Q01432 767 88812 6.51 0 Nucleus membrane Adenosine monophosphate deaminase deficiency erythrocyte type PE1 11 +NX_Q01433 879 100688 6.46 0 Cytosol Spastic paraplegia 63, autosomal recessive;Pontocerebellar hypoplasia 9 PE1 1 +NX_Q01449 175 19448 4.83 0 NA NA PE1 7 +NX_Q01453 160 17891 7.75 4 Cell membrane Charcot-Marie-Tooth disease 1A;Hereditary neuropathy with liability to pressure palsies;Dejerine-Sottas syndrome;Inflammatory demyelinating polyneuropathy;Charcot-Marie-Tooth disease 1E PE1 17 +NX_Q01459 385 43760 6.19 0 Lysosome;Cytosol NA PE1 1 +NX_Q01469 135 15164 6.6 0 Cytoplasm;Nucleus;Cytoplasm NA PE1 8 +NX_Q01484 3957 433715 5.03 0 M line;Apical cell membrane;Cytoskeleton;Membrane;Cell membrane;Postsynaptic cell membrane;Early endosome;Recycling endosome;Lysosome;Mitochondrion Long QT syndrome 4 PE1 4 +NX_Q01518 475 51901 8.24 0 Cell membrane;Cytosol NA PE1 1 +NX_Q01523 94 10071 8.3 0 Secretory vesicle;Secreted NA PE1 8 +NX_Q01524 100 10975 5.21 0 Secreted NA PE1 8 +NX_Q01534 308 35012 5.29 0 Cytoplasm;Nucleus NA PE1 Y +NX_Q01538 1121 122329 4.81 0 Nucleus;Cytosol;Nucleoplasm NA PE1 20 +NX_Q01543 452 50982 6.57 0 Nucleus;Nucleus;Nucleus Ewing sarcoma;Bleeding disorder, platelet-type 21 PE1 11 +NX_Q01546 638 65841 8.38 0 NA NA PE1 12 +NX_Q01581 520 57294 5.22 0 Nucleus;Cytosol;Cytoplasm;Cell membrane NA PE1 5 +NX_Q01628 133 14632 6.49 1 Endosome;Lysosome membrane;Late endosome membrane;Cell membrane NA PE1 11 +NX_Q01629 132 14632 6.89 1 Cell membrane NA PE1 11 +NX_Q01638 556 63358 8.63 1 Cytoplasmic vesicle;Cell membrane;Secreted;Cell membrane NA PE1 2 +NX_Q01650 507 55010 7.9 12 Cytosol;Cytoplasmic vesicle;Cytosol;Apical cell membrane;Cell membrane NA PE1 16 +NX_Q01658 176 19444 4.69 0 Nucleus;Nucleus NA PE1 1 +NX_Q01664 338 38726 5.63 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 16 +NX_Q01668 2161 245141 6.32 24 Membrane;Nucleus membrane Sinoatrial node dysfunction and deafness;Primary aldosteronism, seizures, and neurologic abnormalities PE1 3 +NX_Q01718 297 33927 9.02 7 Cell membrane Glucocorticoid deficiency 1 PE1 18 +NX_Q01726 317 34706 8.78 7 Cell membrane Melanoma, cutaneous malignant 5 PE1 16 +NX_Q01740 532 60311 6.8 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 1 +NX_Q01780 885 100831 8.68 0 Nucleus;Cytoplasm;Nucleolus;Nucleus;Nucleolus;Cytosol NA PE1 1 +NX_Q01804 1114 124045 6.25 0 Cytosol NA PE1 4 +NX_Q01813 784 85596 7.5 0 Cytoplasm;Cytosol NA PE1 10 +NX_Q01814 1243 136876 5.66 10 Cell membrane;Synapse NA PE1 3 +NX_Q01826 763 85957 6.1 0 Nucleoplasm;Nucleus;Nucleus matrix;PML body NA PE1 3 +NX_Q01831 940 105953 9.03 0 Cell membrane;Nucleus;Cytoplasm;Nucleus Xeroderma pigmentosum complementation group C PE1 3 +NX_Q01844 656 68478 9.37 0 Nucleolus;Nucleus;Nucleus;Cell membrane;Cytoplasm Angiomatoid fibrous histiocytoma;Ewing sarcoma PE1 22 +NX_Q01850 454 51855 5.01 0 Nucleoplasm NA PE1 16 +NX_Q01851 419 42697 9.15 0 Nucleus;Cytoplasm NA PE2 13 +NX_Q01860 360 38571 5.69 0 Cytoplasm;Nucleus NA PE1 6 +NX_Q01892 262 28819 5.35 0 Cytoplasm;Nucleus NA PE1 19 +NX_Q01954 994 110972 7 0 Nucleoplasm;Nucleus;Cytoplasm;Nucleoplasm NA PE1 15 +NX_Q01955 1670 161813 9.28 0 Cytoplasmic vesicle;Endoplasmic reticulum;Basement membrane Hematuria, benign familial;Alport syndrome, autosomal recessive;Alport syndrome, autosomal dominant PE1 2 +NX_Q01959 620 68495 6.46 12 Cytoplasmic vesicle;Cell membrane Parkinsonism-dystonia infantile PE1 5 +NX_Q01968 901 104205 6.13 0 Cytosol;Phagosome membrane;Early endosome membrane;Clathrin-coated pit;Photoreceptor outer segment;Cytoskeleton;Cilium;Cytoplasmic vesicle;Endosome;trans-Golgi network Lowe oculocerebrorenal syndrome;Dent disease 2 PE1 X +NX_Q01970 1234 138799 5.68 0 Nucleoplasm;Membrane NA PE1 11 +NX_Q01973 937 104283 6.76 1 Cytoskeleton;Axon;Membrane;Cytoskeleton Deafness, autosomal recessive, 108 PE1 1 +NX_Q01974 943 104757 6.1 1 Cell membrane Robinow syndrome autosomal recessive;Brachydactyly B1 PE1 9 +NX_Q01995 201 22611 8.87 0 Cytosol;Cytoskeleton;Cytoplasm;Mitochondrion NA PE1 11 +NX_Q02040 695 80735 9.76 0 Nucleus speckle;Nucleus speckle;Cytosol NA PE1 X +NX_Q02045 173 19534 4.87 0 Nucleolus;Nucleus NA PE2 4 +NX_Q02078 507 54811 7.72 0 Nucleus;Nucleus;Nucleoplasm Coronary artery disease, autosomal dominant, 1 PE1 15 +NX_Q02080 365 38639 9.58 0 Nucleus NA PE1 19 +NX_Q02083 359 40066 8.88 0 Lysosome NA PE1 4 +NX_Q02086 613 64900 9.95 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 17 +NX_Q02094 409 44198 6.35 12 Membrane Overhydrated hereditary stomatocytosis;Regulator type Rh-null hemolytic anemia PE1 6 +NX_Q02108 690 77452 6.75 0 Cytosol;Nucleoplasm;Cytoplasm Moyamoya disease 6 with achalasia PE1 4 +NX_Q02127 395 42867 9.66 1 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane Postaxial acrofacial dysostosis PE1 16 +NX_Q02153 619 70514 5.2 0 Cytosol;Cytoplasm NA PE1 4 +NX_Q02156 737 83674 6.73 0 Cytoplasmic vesicle;Perinuclear region;Nucleus;Cytoskeleton;Cell membrane;Cytoplasm NA PE1 2 +NX_Q02161 417 45211 8.71 11 Cytoplasm;Cell membrane;Membrane NA PE1 1 +NX_Q02218 1023 115935 6.39 0 Mitochondrion matrix;Mitochondrion NA PE1 7 +NX_Q02221 97 10815 10.91 0 Mitochondrion inner membrane NA PE1 16 +NX_Q02223 184 20165 5.24 1 Cell membrane;Endomembrane system NA PE1 16 +NX_Q02224 2701 316415 5.51 0 Cytosol;Cytoskeleton;Kinetochore;Spindle;Centromere Microcephaly 13, primary, autosomal recessive PE1 4 +NX_Q02241 960 110059 8.76 0 Midbody ring;Spindle;Nucleoplasm;Nucleus NA PE1 15 +NX_Q02246 1040 113393 8.11 0 Cell membrane Epilepsy, familial adult myoclonic, 5 PE1 1 +NX_Q02252 535 57840 8.72 0 Mitochondrion;Mitochondrion Methylmalonate semialdehyde dehydrogenase deficiency PE1 14 +NX_Q02297 640 70392 9 1 Cell membrane;Secreted;Membrane;Secreted;Nucleus;Nucleoplasm NA PE1 8 +NX_Q02318 531 60235 9.05 0 Mitochondrion;Mitochondrion membrane Cerebrotendinous xanthomatosis PE1 2 +NX_Q02325 96 10971 6.11 0 Secreted NA PE2 2 +NX_Q02338 343 38157 9.1 0 Mitochondrion inner membrane;Mitochondrion matrix;Mitochondrion NA PE1 3 +NX_Q02363 134 14917 7.82 0 Cytoplasm;Nucleus;Centrosome;Nucleus;Nucleoplasm NA PE1 2 +NX_Q02383 582 65444 9.09 0 Secreted NA PE1 20 +NX_Q02386 682 78242 8.98 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q02388 2944 295220 5.95 0 Basement membrane Epidermolysis bullosa dystrophica, pretibial type;Epidermolysis bullosa dystrophica, Bart type;Epidermolysis bullosa dystrophica, Hallopeau-Siemens type;Epidermolysis bullosa pruriginosa;Transient bullous dermolysis of the newborn;Nail disorder, non-syndromic congenital, 8;Epidermolysis bullosa dystrophica, with subcorneal cleavage;Epidermolysis bullosa dystrophica, autosomal dominant;Epidermolysis bullosa dystrophica, autosomal recessive;Epidermolysis bullosa dystrophica, Pasini type PE1 3 +NX_Q02410 837 92865 4.84 0 Cytoplasm;Perinuclear region;Golgi apparatus;Golgi apparatus;Nucleus NA PE1 9 +NX_Q02413 1049 113748 4.9 1 Cell membrane;Desmosome Palmoplantar keratoderma 1, striate, focal, or diffuse;Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE PE1 18 +NX_Q02446 784 81985 6.61 0 Cytosol;Nucleoplasm;Nucleus NA PE1 7 +NX_Q02447 781 81925 5.09 0 Nucleus;PML body NA PE1 2 +NX_Q02487 901 99962 5.19 1 Cell membrane;Desmosome Arrhythmogenic right ventricular dysplasia, familial, 11 PE1 18 +NX_Q02505 3323 345127 5.14 1 Secreted;Membrane NA PE1 7 +NX_Q02509 493 53454 4.84 0 Secreted NA PE2 8 +NX_Q02535 119 12999 5.55 0 Nucleus;Nucleoplasm NA PE1 1 +NX_Q02539 215 21842 10.99 0 Nucleus;Chromosome NA PE1 6 +NX_Q02543 176 20762 10.72 0 Nucleolus;Cytosol NA PE1 19 +NX_Q02548 391 42149 9.08 0 Cytoplasmic vesicle;Cytosol;Nucleus;Nucleoplasm Leukemia, acute lymphoblastic, 3 PE1 9 +NX_Q02556 426 48356 6.38 0 Nucleoplasm;Cytoplasm;Nucleus Immunodeficiency 32B;Immunodeficiency 32A PE1 16 +NX_Q02575 133 14618 9.06 0 Nucleus NA PE1 1 +NX_Q02577 135 15018 7.91 0 Nucleus;Nucleus;Nucleoplasm NA PE1 1 +NX_Q02641 598 65714 6.33 0 Sarcolemma NA PE1 17 +NX_Q02643 423 47402 6.26 7 Cell membrane Growth hormone deficiency, isolated, 1B PE1 7 +NX_Q02742 428 49799 8.65 1 Nucleus speckle;Golgi apparatus membrane NA PE1 9 +NX_Q02747 115 12388 4.56 0 Secreted NA PE1 1 +NX_Q02750 393 43439 6.18 0 Cytosol;Centrosome;Spindle pole body;Cytoplasm;Nucleus;Membrane;Cell membrane Cardiofaciocutaneous syndrome 3 PE1 15 +NX_Q02763 1124 125830 6.46 1 Microtubule organizing center;Cell membrane;Cell membrane;Cell junction;Secreted;Focal adhesion;Cytoskeleton Dominantly inherited venous malformations;Glaucoma 3, primary congenital, E PE1 9 +NX_Q02779 954 103694 6.56 0 Nucleus;Cytosol;Cytoskeleton NA PE1 19 +NX_Q02790 459 51805 5.35 0 Cytosol;Cytosol;Mitochondrion;Axon;Cytoskeleton;Nucleus;Nucleoplasm NA PE1 12 +NX_Q02809 727 83550 6.46 0 Cytoplasmic vesicle;Rough endoplasmic reticulum membrane;Nucleoplasm Ehlers-Danlos syndrome 6 PE1 1 +NX_Q02817 5179 540300 5.49 0 Secreted NA PE1 11 +NX_Q02818 461 53879 5.15 0 Cytoplasm;Secreted;cis-Golgi network membrane;Golgi apparatus;Cytoskeleton NA PE1 19 +NX_Q02833 373 39945 5.5 0 Centrosome;Microtubule organizing center NA PE1 11 +NX_Q02846 1103 120059 7.15 1 Membrane Leber congenital amaurosis 1;Cone-rod dystrophy 6 PE1 17 +NX_Q02878 288 32728 10.59 0 NA NA PE1 12 +NX_Q02880 1626 183267 8.14 0 Nucleus;Cytoplasm;Nucleolus NA PE1 3 +NX_Q02928 519 59348 8.96 0 Microsome membrane;Endoplasmic reticulum membrane NA PE1 1 +NX_Q02930 508 56918 8.76 0 Cytoplasmic vesicle;Nucleus;Nucleus;Cell membrane NA PE1 7 +NX_Q02952 1782 191482 4.37 0 Cytoplasm;Cell membrane;Cytoskeleton;Cytosol;Cell cortex;Cytoskeleton;Membrane;Cell membrane NA PE1 6 +NX_Q02962 417 44706 7.25 0 Golgi apparatus;Nucleolus;Nucleus Focal segmental glomerulosclerosis 7;Papillorenal syndrome PE1 10 +NX_Q02978 314 34062 9.92 6 Mitochondrion inner membrane NA PE1 17 +NX_Q02985 330 37323 7.72 0 Secreted NA PE1 1 +NX_Q03001 7570 860662 5.14 0 Nucleus;Cytosol;Membrane;Endoplasmic reticulum membrane;Membrane;Nucleus envelope;Nucleus;Hemidesmosome;H zone;Z line;Cytoskeleton;Axon;Cytoskeleton;Cell membrane;Cell cortex Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, 6 PE1 6 +NX_Q03013 218 25561 5.6 0 Cytoplasm NA PE1 1 +NX_Q03014 270 30022 6.72 0 Nucleus;Nucleoplasm;Mitochondrion NA PE1 10 +NX_Q03052 451 45496 7.29 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q03060 361 38940 6.22 0 Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleus NA PE1 10 +NX_Q03111 559 62056 8.75 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q03112 1051 118276 6.27 0 Nucleus speckle;Nucleus;Nucleus speckle Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 PE1 3 +NX_Q03113 381 44279 9.84 0 Cytosol;Cytoplasm;Lateral cell membrane;Cell membrane NA PE1 7 +NX_Q03135 178 20472 5.64 0 Cytoplasm;Golgi apparatus;Nucleus;trans-Golgi network;Golgi apparatus membrane;Cell membrane;Caveola;Golgi apparatus;Membrane raft;Cell membrane Congenital generalized lipodystrophy 3;Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome;Pulmonary hypertension, primary, 3 PE1 7 +NX_Q03154 408 45885 5.77 0 Cytoplasm Aminoacylase-1 deficiency PE1 3 +NX_Q03164 3969 431764 9.22 0 Nucleus;Nucleus;Nucleus;Nucleoplasm;Cytosol Wiedemann-Steiner syndrome PE1 11 +NX_Q03167 851 93499 5.45 1 Cytosol;Secreted;Extracellular space;Cell membrane NA PE1 1 +NX_Q03169 654 72661 6.06 0 Cytosol;Nucleus;Nucleus membrane;Golgi apparatus NA PE1 14 +NX_Q03181 441 49903 7.53 0 Nucleus NA PE1 6 +NX_Q03188 943 106834 9.43 0 Nucleus;Nucleoplasm;Cytosol;Nucleus;Kinetochore;Centromere NA PE1 4 +NX_Q03252 620 69948 5.5 0 Nucleus membrane;Nucleus inner membrane Epilepsy, progressive myoclonic 9;Partial acquired lipodystrophy PE1 19 +NX_Q03393 145 16386 6.2 0 Cytosol Hyperphenylalaninemia, BH4-deficient, A PE1 11 +NX_Q03395 351 37205 5.65 4 Cell membrane;Cytosol;Membrane Retinitis pigmentosa 7 PE1 11 +NX_Q03403 129 14284 5.51 0 Secreted NA PE1 21 +NX_Q03405 335 36978 6.19 0 Cell membrane;Cell membrane;Secreted;Cell membrane;Invadopodium membrane NA PE1 19 +NX_Q03426 396 42451 6.02 0 Cytoplasm Porokeratosis 3, multiple types;Mevalonic aciduria;Hyperimmunoglobulinemia D and periodic fever syndrome PE1 12 +NX_Q03431 593 66361 8.25 7 Cell membrane Eiken skeletal dysplasia;Chondrodysplasia Blomstrand type;Jansen metaphyseal chondrodysplasia;Primary failure of tooth eruption;Enchondromatosis multiple PE1 3 +NX_Q03468 1493 168416 8.28 0 Nucleus;Nucleus De Sanctis-Cacchione syndrome;UV-sensitive syndrome 1;Macular degeneration, age-related, 5;Cerebro-oculo-facio-skeletal syndrome 1;Cockayne syndrome B PE1 10 +NX_Q03518 808 87218 8.24 10 Endoplasmic reticulum membrane;Endoplasmic reticulum;Microtubule organizing center Bare lymphocyte syndrome 1 PE1 6 +NX_Q03519 686 75664 8.24 9 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus speckle Bare lymphocyte syndrome 1 PE1 6 +NX_Q03591 330 37651 7.39 0 Secreted NA PE1 1 +NX_Q03692 680 66158 9.68 0 Extracellular matrix Schmid type metaphyseal chondrodysplasia PE1 6 +NX_Q03701 1054 120974 5.65 0 Cytoplasmic vesicle;Nucleus;Nucleus NA PE1 2 +NX_Q03721 635 69767 6.56 6 Membrane;Cytosol;Nucleolus NA PE1 1 +NX_Q03828 476 47800 9.12 0 Nucleus NA PE2 2 +NX_Q03923 595 68736 9.45 0 Nucleus;Nucleus NA PE1 19 +NX_Q03924 483 56376 9.46 0 Cytosol;Nucleolus;Nucleus NA PE2 7 +NX_Q03933 536 60348 4.7 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 6 +NX_Q03936 586 68487 9.4 0 Nucleus NA PE1 7 +NX_Q03938 601 69058 9.36 0 Nucleus;Golgi apparatus;Nucleus NA PE1 19 +NX_Q03989 594 64074 9.34 0 Nucleolus;Nucleus;Nucleus NA PE1 2 +NX_Q04118 309 30980 10.8 0 Secreted NA PE1 12 +NX_Q04206 551 60219 5.46 0 Cytosol;Cytoplasm;Nucleus NA PE1 11 +NX_Q04323 297 33325 5.23 0 Nucleoplasm;Cytoplasm NA PE1 11 +NX_Q04446 702 80474 5.87 0 Cytosol;Nucleoplasm Glycogen storage disease 4;Polyglucosan body neuropathy, adult form PE1 3 +NX_Q04609 750 84331 6.5 1 Cell membrane;Cytoplasm NA PE1 11 +NX_Q04637 1599 175491 5.25 0 Cytosol Parkinson disease 18 PE1 3 +NX_Q04656 1500 163374 5.85 8 Golgi apparatus;Cytoplasmic vesicle;trans-Golgi network membrane;Cell membrane;Cytosol;Endoplasmic reticulum Occipital horn syndrome;Menkes disease;Distal spinal muscular atrophy, X-linked, 3 PE1 X +NX_Q04671 838 92850 6.84 12 Melanosome membrane Albinism, oculocutaneous, 2 PE1 15 +NX_Q04695 432 48106 4.97 0 Cytoplasm Pachyonychia congenita 2;Steatocystoma multiplex PE1 17 +NX_Q04721 2471 265405 4.95 1 Cell membrane;Nucleoplasm;Cell membrane;Nucleus;Cytoplasm Hajdu-Cheney syndrome;Alagille syndrome 2 PE1 1 +NX_Q04724 770 83201 6.79 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q04725 743 79841 6.16 0 Nucleus;Focal adhesion;Nucleus NA PE1 19 +NX_Q04726 772 83417 6.72 0 Nucleoplasm;Nucleus NA PE1 15 +NX_Q04727 773 83755 7.2 0 Nucleus;Nucleus NA PE1 9 +NX_Q04741 257 28039 9.85 0 Nucleolus;Cytoplasm;Nucleus NA PE1 2 +NX_Q04743 252 28303 9.83 0 Nucleus;Nucleus Schizencephaly PE1 10 +NX_Q04756 655 70682 6.99 0 Secreted NA PE1 4 +NX_Q04759 706 81865 7.69 0 Microtubule organizing center;Cytoplasm;Cell membrane NA PE1 10 +NX_Q04760 184 20778 5.12 0 Cell membrane;Nucleoplasm;Cytosol NA PE1 6 +NX_Q04771 509 57153 7.12 1 Membrane Fibrodysplasia ossificans progressiva PE1 2 +NX_Q04826 362 40505 6.09 1 Membrane NA PE1 6 +NX_Q04828 323 36788 8.02 0 Cytoplasm NA PE1 10 +NX_Q04837 148 17260 9.59 0 Mitochondrion;Mitochondrion;Mitochondrion nucleoid;Mitochondrion NA PE1 7 +NX_Q04844 493 54697 5.15 4 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 4A, slow-channel;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, 4B, fast-channel PE1 17 +NX_Q04864 619 68520 5.56 0 Nucleus NA PE1 2 +NX_Q04900 197 20917 8.3 1 Endosome;Endoplasmic reticulum;Cell membrane;Endosome membrane;Lysosome membrane;Cell membrane;Secreted Deafness, autosomal dominant, 66 PE1 6 +NX_Q04912 1400 152271 6.09 1 Membrane;Cytosol Nasopharyngeal carcinoma, 3 PE1 3 +NX_Q04917 246 28219 4.76 0 Cytoplasm NA PE1 22 +NX_Q04941 152 16691 6.8 4 Membrane NA PE1 X +NX_Q05048 431 48358 6.12 0 Nucleoplasm;Nucleus NA PE1 20 +NX_Q05066 204 23884 9.55 0 Nucleus;Cytoplasm;Nucleus speckle 46,XX sex reversal 1;46,XY sex reversal 1 PE1 Y +NX_Q05084 483 54645 5.55 0 Cytoplasm;Cytosol;Cytoplasmic vesicle;Cytosol;Golgi apparatus membrane;Secretory vesicle membrane;Synaptic vesicle membrane NA PE1 7 +NX_Q05086 875 100688 5.12 0 Cytosol;Nucleus;Cytoplasm;Nucleoplasm Angelman syndrome PE1 15 +NX_Q05193 864 97408 6.73 0 Cytoplasm;Cytoskeleton;Nucleoplasm Epileptic encephalopathy, early infantile, 31 PE1 9 +NX_Q05195 221 25254 8.68 0 Mitochondrion;Nucleus;Nucleoplasm;Cytosol NA PE1 2 +NX_Q05209 780 88106 5.4 0 Cytosol;Cytoplasm;Podosome;Focal adhesion;Cell membrane NA PE1 7 +NX_Q05215 589 61623 8.74 0 Nucleus NA PE2 2 +NX_Q05315 142 16453 6.83 0 Cytoplasmic granule;Cytosol NA PE1 19 +NX_Q05329 585 65411 6.45 0 Cytosol;Cytoplasmic vesicle;Presynaptic cell membrane;Golgi apparatus membrane NA PE1 10 +NX_Q05397 1052 119233 6.19 0 Nucleus;Cytosol;Centrosome;Cytoskeleton;Cell cortex;Cell membrane;Focal adhesion;Cytoplasmic vesicle;Focal adhesion NA PE1 8 +NX_Q05469 1076 116598 6.25 0 Cell membrane;Cytosol;Caveola;Cytosol Lipodystrophy, familial partial, 6 PE1 19 +NX_Q05481 1191 137217 9.45 0 Nucleus NA PE1 19 +NX_Q05513 592 67660 5.49 0 Cell membrane;Cytoplasm;Endosome;Cytosol;Cell junction NA PE1 1 +NX_Q05516 673 74274 6.02 0 Nucleus Skeletal defects, genital hypoplasia, and mental retardation PE1 11 +NX_Q05519 484 53542 10.52 0 Nucleus speckle;Nucleus NA PE1 1 +NX_Q05586 938 105373 9.03 3 Cell membrane;Postsynaptic cell membrane;Postsynaptic density Mental retardation, autosomal dominant 8 PE1 9 +NX_Q05639 463 50470 9.11 0 Nucleus Mental retardation, autosomal dominant 38;Epileptic encephalopathy, early infantile, 33 PE1 20 +NX_Q05655 676 77505 7.93 0 Cell membrane;Endoplasmic reticulum;Cytosol;Golgi apparatus;Nucleus;Perinuclear region;Cytoplasm Autoimmune lymphoproliferative syndrome 3 PE1 3 +NX_Q05682 793 93231 5.62 0 Cytoskeleton;Cell membrane;Cytoskeleton;Myofibril;Cytoskeleton NA PE1 7 +NX_Q05707 1796 193515 5.16 0 Cytoplasmic vesicle;Extracellular matrix NA PE1 8 +NX_Q05823 741 83533 6.2 0 Cytoplasm;Cytosol;Mitochondrion Prostate cancer, hereditary, 1 PE1 1 +NX_Q05901 458 52729 8.15 4 Postsynaptic cell membrane;Cell membrane NA PE2 8 +NX_Q05923 314 34400 8.24 0 Nucleus;Nucleus membrane;Nucleus NA PE1 2 +NX_Q05925 392 40115 9.55 0 Nucleus;Nucleus;Nucleolus NA PE1 2 +NX_Q05932 587 64609 8.17 0 Mitochondrion inner membrane;Mitochondrion matrix;Cytoplasm NA PE1 9 +NX_Q05940 514 55713 5.69 12 Cytoplasmic vesicle membrane NA PE1 10 +NX_Q05952 138 15641 11.59 0 Nucleus;Chromosome NA PE1 16 +NX_Q05996 745 82357 6 1 Cell membrane;Extracellular matrix NA PE1 16 +NX_Q05BQ5 628 70547 7.96 0 Cytosol;Nucleus;Nucleus NA PE1 17 +NX_Q05BU3 40 4003 11.83 0 NA NA PE5 3 +NX_Q05BV3 1969 219427 7.87 0 Cytoskeleton NA PE1 14 +NX_Q05C16 580 66309 9.26 0 Golgi apparatus NA PE2 13 +NX_Q05D32 466 52999 6.03 0 Nucleoplasm NA PE1 15 +NX_Q05D60 604 70977 5.87 0 Cytoplasm NA PE1 11 +NX_Q05DH4 1040 116621 4.76 0 Cytosol NA PE1 4 +NX_Q06033 890 99849 5.49 0 Secreted NA PE1 3 +NX_Q06055 141 14637 9.26 2 Mitochondrion membrane NA PE2 12 +NX_Q06124 597 68436 6.87 0 Nucleus;Cytoplasm;Cytoplasm;Nucleus;Cytoskeleton;Nucleus;Nucleolus;Cytosol LEOPARD syndrome 1;Metachondromatosis;Leukemia, juvenile myelomonocytic;Noonan syndrome 1 PE1 12 +NX_Q06136 332 36187 6.75 2 Endoplasmic reticulum membrane Erythrokeratodermia variabilis et progressiva 4 PE1 18 +NX_Q06141 175 19395 7.56 0 Secreted NA PE1 2 +NX_Q06187 659 76281 7.83 0 Cytoplasm;Cell membrane;Nucleus;Nucleus;Cytoplasmic vesicle;Cytoplasm;Cell membrane X-linked agammaglobulinemia;X-linked hypogammaglobulinemia and isolated growth hormone deficiency PE1 X +NX_Q06190 1150 130278 5.09 0 Golgi apparatus NA PE1 3 +NX_Q06203 517 57399 6.3 0 Midbody ring NA PE1 4 +NX_Q06210 699 78806 6.66 0 Nucleolus;Nucleus Myasthenic syndrome, congenital, 12 PE1 2 +NX_Q06250 92 10039 11.65 0 NA NA PE5 11 +NX_Q06265 439 48949 5.19 0 Cytoplasm;Nucleoplasm;Nucleolus;Nucleus;Nucleolus;Nucleus NA PE1 4 +NX_Q06278 1338 147918 6.79 0 Nucleus;Cytosol;Cytoplasm NA PE1 2 +NX_Q06323 249 28723 5.78 0 NA NA PE1 14 +NX_Q06330 500 55637 6.8 0 Nucleoplasm;Cytoplasm;Nucleus Adams-Oliver syndrome 3 PE1 4 +NX_Q06413 473 51221 8.14 0 Cytoplasmic vesicle;Sarcoplasm;Nucleoplasm;Nucleus Mental retardation, autosomal dominant 20 PE1 5 +NX_Q06416 359 38588 6.26 0 Nucleus NA PE5 8 +NX_Q06418 890 96905 5.47 1 Cell membrane NA PE1 15 +NX_Q06432 222 25028 6.64 4 Membrane NA PE1 17 +NX_Q06455 604 67566 8.15 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q06481 763 86956 4.73 1 Cell membrane;Nucleus;Cytoplasmic vesicle;Cell membrane;Nucleus NA PE1 11 +NX_Q06495 639 68937 8.99 8 Apical cell membrane Nephrolithiasis/osteoporosis, hypophosphatemic, 1;Fanconi renotubular syndrome 2;Hypercalcemia, infantile, 2 PE1 5 +NX_Q06520 285 33780 5.71 0 Cytosol;Cytoplasm NA PE1 19 +NX_Q06546 454 51295 4.87 0 Nucleoplasm;Nucleus NA PE1 21 +NX_Q06547 395 42483 4.77 0 Cytosol;Nucleoplasm;Nucleus NA PE1 15 +NX_Q06587 406 42429 5.44 0 Cytosol;Nucleoplasm;Nucleus;Nucleus speckle NA PE1 6 +NX_Q06609 339 36966 5.44 0 Cytosol;Nucleolus;Mitochondrion;Nucleus;Cytoplasm;Perinuclear region;Mitochondrion matrix;Centrosome Fanconi anemia, complementation group R;Mirror movements 2;Breast cancer PE1 15 +NX_Q06643 244 25390 5.25 1 Centrosome;Membrane NA PE1 6 +NX_Q06710 450 48218 7.72 0 Nucleoplasm;Nucleus Hypothyroidism, congenital, non-goitrous, 2 PE1 2 +NX_Q06730 810 94384 8.42 0 Nucleus NA PE1 10 +NX_Q06732 778 90683 8.6 0 Nucleus NA PE1 10 +NX_Q06787 632 71174 7 0 Cytoplasm;Perinuclear region;Cytosol;Cajal body;Nucleolus;Centromere;Chromosome;Cytoplasmic granule;Perikaryon;Cell projection;Axon;Nucleus;Cell membrane;Presynaptic cell membrane;Postsynaptic cell membrane;Synapse;Filopodium tip;Growth cone;Synaptosome;Dendritic spine;Cytoplasm;Dendrite Fragile X syndrome;Premature ovarian failure 1;Fragile X tremor/ataxia syndrome PE1 X +NX_Q06828 376 43179 5.66 0 Extracellular matrix NA PE1 1 +NX_Q06830 199 22110 8.27 0 Melanosome;Mitochondrion;Cytoplasm NA PE1 1 +NX_Q06889 387 42613 8.62 0 Nucleus;Nucleus;Cytoplasmic vesicle NA PE1 8 +NX_Q06945 474 47263 6.87 0 Nucleoplasm;Mitochondrion;Nucleus NA PE1 6 +NX_Q07000 366 40863 5.92 1 Membrane NA PE1 6 +NX_Q07001 517 58895 6.12 4 Cell membrane;Postsynaptic cell membrane Multiple pterygium syndrome, lethal type;Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, 3B, fast-channel;Myasthenic syndrome, congenital, 3A, slow-channel PE1 2 +NX_Q07002 472 54180 8.84 0 Cytoskeleton NA PE1 1 +NX_Q07011 255 27899 8.12 1 Cell membrane;Nucleolus;Membrane NA PE1 1 +NX_Q07020 188 21634 11.73 0 Nucleolus;Cytoplasm;Nucleus;Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum NA PE1 19 +NX_Q07021 282 31362 4.74 0 Mitochondrion;Cell membrane;Mitochondrion matrix;Nucleus;Cell membrane;Secreted;Cytoplasm;Nucleolus;Cell membrane;Mitochondrion NA PE1 17 +NX_Q07065 602 66022 5.63 1 Endoplasmic reticulum membrane;Cytosol;Perinuclear region;Cell membrane;Cytoskeleton;Nucleus speckle;Cytosol NA PE1 12 +NX_Q07075 957 109244 5.31 1 Membrane NA PE1 4 +NX_Q07092 1604 157751 8.14 0 Cytosol;Golgi apparatus;Cell membrane;Extracellular matrix NA PE1 1 +NX_Q07108 199 22559 6.16 1 Membrane NA PE1 12 +NX_Q07157 1748 195459 6.24 0 Cell membrane;Golgi apparatus;Gap junction;Cell membrane;Tight junction;Cell junction;Cell junction NA PE1 15 +NX_Q07283 1943 253925 5.73 0 NA Uncombable hair syndrome 3 PE1 1 +NX_Q07325 125 14019 10.39 0 Secreted NA PE1 4 +NX_Q07326 219 24890 8.88 6 Endoplasmic reticulum membrane NA PE1 2 +NX_Q07343 736 83343 5.09 0 NA NA PE1 1 +NX_Q07352 338 36314 8.12 0 P-body;Nucleus;Cytoplasm;Cytoplasmic granule NA PE1 14 +NX_Q07444 240 27100 8.36 1 Cytoplasmic vesicle;Membrane NA PE2 12 +NX_Q07507 201 24005 4.7 0 Extracellular matrix;Cytoplasmic vesicle NA PE1 1 +NX_Q075Z2 132 15693 6.8 0 Secreted NA PE1 19 +NX_Q07617 926 103639 6.46 0 Cytosol;Cytoplasm Ciliary dyskinesia, primary, 28 PE1 8 +NX_Q07627 177 18235 5.55 0 NA NA PE1 17 +NX_Q07654 80 8641 5.66 0 Extracellular matrix;Cytoplasm NA PE1 21 +NX_Q07666 443 48227 8.73 0 Nucleus;Membrane;Nucleoplasm NA PE1 1 +NX_Q07687 328 34243 9.25 0 Nucleus speckle;Nucleus NA PE1 2 +NX_Q07699 218 24707 4.88 1 Cell membrane;Secreted Atrial fibrillation, familial, 13;Epileptic encephalopathy, early infantile, 52;Generalized epilepsy with febrile seizures plus 1;Brugada syndrome 5 PE1 19 +NX_Q07812 192 21184 5.08 1 Mitochondrion membrane;Cytoplasm NA PE1 19 +NX_Q07817 233 26049 4.86 1 Mitochondrion inner membrane;Mitochondrion;Mitochondrion outer membrane;Mitochondrion matrix;Synaptic vesicle membrane;Cytosol;Nucleus membrane;Centrosome NA PE1 20 +NX_Q07820 350 37337 5.51 1 Mitochondrion;Membrane;Cytoplasm;Mitochondrion;Nucleoplasm NA PE1 1 +NX_Q07837 685 78852 5.61 1 Membrane Hypotonia-cystinuria syndrome;Cystinuria PE1 2 +NX_Q07864 2286 261518 5.98 0 Cell membrane;Nucleus;Nucleus Facial dysmorphism, immunodeficiency, livedo, and short stature;Colorectal cancer 12 PE1 12 +NX_Q07866 573 65310 5.87 0 Growth cone;Cell membrane;Cytoplasmic vesicle;Cytoskeleton;Cytosol;Nucleoplasm NA PE1 14 +NX_Q07869 468 52225 5.86 0 Nucleus;Nucleus NA PE1 22 +NX_Q07889 1333 152464 6.38 0 Cytosol;Nucleolus;Nucleus Fibromatosis, gingival, 1;Noonan syndrome 4 PE1 2 +NX_Q07890 1332 152979 6.39 0 Cytoplasmic vesicle;Nucleoplasm Noonan syndrome 9 PE1 14 +NX_Q07912 1038 114569 6.84 0 Endosome;Adherens junction;Cytoplasmic vesicle membrane;Clathrin-coated vesicle;Nucleus;Cell membrane;Cytosol;Perinuclear region;Clathrin-coated pit NA PE1 3 +NX_Q07954 4544 504606 5.16 1 Cell membrane;Cytosol;Cytoplasm;Nucleus;Coated pit;Cell membrane;Coated pit;Nucleolus Keratosis pilaris atrophicans PE1 12 +NX_Q07955 248 27745 10.37 0 Nucleus speckle;Cytoplasm;Nucleoplasm NA PE1 17 +NX_Q07960 439 50436 5.85 0 Cytoplasmic vesicle;Cytoplasm NA PE1 11 +NX_Q07973 514 58875 8.94 0 Mitochondrion;Cell membrane;Mitochondrion;Nucleoplasm Hypercalcemia, infantile, 1 PE1 20 +NX_Q08043 901 103241 5.37 0 NA NA PE1 11 +NX_Q08050 763 84283 8 0 Cytosol;Nucleus;Nucleolus;Nucleus NA PE1 12 +NX_Q08116 209 23858 8.8 0 Cytosol;Cell membrane NA PE1 1 +NX_Q08117 197 21970 5.9 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q08170 494 56678 11.52 0 Nucleus speckle;Nucleus speckle NA PE1 1 +NX_Q08174 1060 114743 4.91 1 Nucleolus;Cell junction;Cell junction;Cell membrane;Nucleus NA PE1 5 +NX_Q08188 693 76632 5.62 0 Cytoplasm Uncombable hair syndrome 2 PE1 20 +NX_Q08209 521 58688 5.58 0 Nucleus;Sarcolemma;Cell membrane;Nucleoplasm;Cytosol NA PE1 4 +NX_Q08211 1270 140958 6.41 0 Nucleus;Nucleoplasm;Nucleus;Nucleolus;Cytoplasm;Centrosome NA PE1 1 +NX_Q08257 329 35207 8.56 0 Cytoplasm;Cytosol NA PE1 1 +NX_Q08289 660 73581 8.11 0 Sarcolemma Brugada syndrome 4 PE1 10 +NX_Q08334 325 36995 5.03 1 Cytosol;Membrane Inflammatory bowel disease 25 PE1 21 +NX_Q08345 913 101128 6.38 1 Nucleoplasm;Cell junction;Secreted;Cell membrane NA PE1 6 +NX_Q08357 652 70392 6.09 12 Cell membrane;Cell membrane;Cytoplasm Basal ganglia calcification, idiopathic, 1 PE1 8 +NX_Q08378 1498 167355 5.34 0 Nucleus;Golgi stack membrane;Cytoplasm;Golgi apparatus NA PE1 12 +NX_Q08379 1002 113086 5 0 cis-Golgi network membrane;Golgi apparatus;Spindle pole NA PE1 9 +NX_Q08380 585 65331 5.13 0 Extracellular matrix;Secreted NA PE1 17 +NX_Q08397 574 63110 7.25 0 Endoplasmic reticulum;Extracellular space Exfoliation syndrome PE1 15 +NX_Q08426 723 79495 9.24 0 Peroxisome Fanconi renotubular syndrome 3 PE1 3 +NX_Q08431 387 43123 8.47 0 Nucleus;Cytoplasm;Cytosol;Membrane;Secreted NA PE1 15 +NX_Q08462 1091 123603 8.4 12 Membrane;Cell membrane;Cytoplasm NA PE1 5 +NX_Q08477 520 59847 7.57 1 Microsome membrane;Endoplasmic reticulum membrane NA PE1 19 +NX_Q08493 712 79902 5.06 0 Cilium NA PE1 19 +NX_Q08495 405 45514 8.94 0 Cytoplasm;Cytosol;Perinuclear region;Cytoskeleton;Cell membrane;Endomembrane system;Cell projection;Membrane NA PE1 8 +NX_Q08499 809 91115 5.31 0 Apical cell membrane;Nucleus membrane;Cytosol;Membrane;Cytoplasm;Cell membrane;Cytoskeleton;Centrosome Acrodysostosis 2, with or without hormone resistance PE1 5 +NX_Q08554 894 99987 5.25 1 Cell membrane;Desmosome NA PE1 18 +NX_Q08623 228 25249 5.18 0 NA NA PE1 X +NX_Q08629 439 49124 5.74 0 Extracellular matrix;Cytoplasmic vesicle NA PE1 5 +NX_Q08648 103 11431 11.49 0 Secreted NA PE1 8 +NX_Q08708 224 24830 9.38 1 Cell membrane NA PE2 17 +NX_Q08722 323 35214 6.82 5 Golgi apparatus;Cell membrane;Cytoplasmic vesicle;Cell membrane NA PE1 3 +NX_Q08752 370 40764 6.77 0 Nucleolus;Nucleoplasm;Nucleolus;Cytoplasm;Nucleus;Cytosol NA PE1 4 +NX_Q08828 1119 123440 8.77 12 Mitochondrion;Cell membrane;Cytoplasm;Membrane raft;Membrane Deafness, autosomal recessive, 44 PE1 7 +NX_Q08830 312 36379 5.58 0 Secreted NA PE1 8 +NX_Q08881 620 71831 7.51 0 Cytoplasm;Nucleus Lymphoproliferative syndrome 1 PE1 5 +NX_Q08945 709 81075 6.45 0 Cytosol;Nucleus;Nucleolus;Chromosome;Nucleus NA PE1 11 +NX_Q08999 1139 128367 7.27 0 Cytosol;Nucleus;Nucleolus;Nucleus NA PE1 16 +NX_Q08AD1 1489 168089 6.36 0 Cytosol;Cytoskeleton;Golgi apparatus;Cytoskeleton NA PE1 1 +NX_Q08AE8 756 85544 8.89 0 Endosome;Cytosol;Cytoskeleton;Perinuclear region;Cell membrane;Cytoplasmic vesicle membrane;Nucleoplasm NA PE1 18 +NX_Q08AF3 891 101055 8.54 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 17 +NX_Q08AF8 430 48405 5.41 0 NA NA PE5 15 +NX_Q08AG5 666 76934 9.14 0 Nucleus NA PE1 19 +NX_Q08AG7 82 8479 4.76 0 Centrosome;Spindle NA PE1 13 +NX_Q08AH1 577 65273 8.54 0 Mitochondrion matrix NA PE1 16 +NX_Q08AH3 577 64223 8.34 0 Mitochondrion matrix NA PE1 16 +NX_Q08AI6 406 44825 6.12 10 Membrane NA PE2 2 +NX_Q08AI8 447 49565 6.02 0 Golgi apparatus;Nucleoplasm NA PE1 2 +NX_Q08AM6 782 87973 5.76 0 Endosome membrane;Microsome membrane;Cytoplasmic vesicle;Cytosol Striatonigral degeneration, childhood-onset PE1 16 +NX_Q08AN1 781 90273 9.66 0 Centrosome;Nucleus NA PE1 19 +NX_Q08E93 113 13507 11.89 0 NA NA PE1 9 +NX_Q08ER8 600 68404 8.18 0 Nucleus;Nucleus speckle;Cytosol NA PE1 19 +NX_Q08ET2 396 43970 8.24 1 Cell membrane NA PE1 19 +NX_Q08J23 767 86471 6.33 0 Nucleolus;Nucleus;Spindle Mental retardation, autosomal recessive 5 PE1 5 +NX_Q09013 629 69385 4.92 1 Cytosol;Endoplasmic reticulum membrane;Nucleus outer membrane;Mitochondrion outer membrane;Cytoplasmic vesicle;Sarcoplasmic reticulum membrane;Cell membrane;Cytosol;Mitochondrion membrane Dystrophia myotonica 1 PE1 19 +NX_Q09019 674 70438 6.9 0 Nucleus;Cytoskeleton;Dendrite;Perikaryon;Cell membrane NA PE1 19 +NX_Q09028 425 47656 4.74 0 Nucleus NA PE1 1 +NX_Q09160 365 40792 5.9 1 Membrane NA PE1 6 +NX_Q09161 790 91839 5.99 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 9 +NX_Q09327 533 61313 8.54 1 Golgi apparatus membrane NA PE1 22 +NX_Q09328 741 84543 8.41 1 Golgi apparatus membrane NA PE1 2 +NX_Q09428 1581 176992 7.99 17 Golgi apparatus;Cytosol;Nucleolus;Cell membrane Diabetes mellitus, permanent neonatal;Transient neonatal diabetes mellitus 2;Leucine-induced hypoglycemia;Familial hyperinsulinemic hypoglycemia 1 PE1 11 +NX_Q09470 495 56466 5.08 6 Cell membrane;Membrane;Axon;Cytoplasmic vesicle;Presynaptic cell membrane;Perikaryon;Endoplasmic reticulum;Dendrite;Cell junction;Synapse Episodic ataxia 1;Myokymia isolated 1 PE1 12 +NX_Q09472 2414 264161 8.81 0 Nucleoplasm;Cytoplasm;Nucleus;Chromosome Rubinstein-Taybi syndrome 2 PE1 22 +NX_Q09666 5890 629101 5.8 0 Cytosol;Nucleus;Cell membrane NA PE1 11 +NX_Q09FC8 603 68798 9.16 0 Nucleolus;Nucleus;Cytoskeleton;Cytoplasm NA PE1 19 +NX_Q09MP3 1159 133907 7.11 0 NA NA PE1 2 +NX_Q0D2H9 430 48423 5.41 0 NA NA PE5 15 +NX_Q0D2I5 559 61979 4.83 0 NA NA PE1 12 +NX_Q0D2J5 394 46099 9.32 0 Nucleus NA PE2 19 +NX_Q0D2K0 466 50058 7.09 9 Membrane Ichthyosis, congenital, autosomal recessive 6 PE1 5 +NX_Q0D2K2 578 63976 5.59 0 Microtubule organizing center NA PE1 2 +NX_Q0D2K3 151 16379 4.32 0 Nucleus NA PE1 X +NX_Q0D2K5 195 21632 8.36 0 NA NA PE5 3 +NX_Q0GE19 358 39485 9.54 10 Nucleolus;Membrane NA PE1 4 +NX_Q0IIM8 1120 128709 5.66 0 Cytosol NA PE1 X +NX_Q0IIN9 211 22478 8.78 0 NA NA PE5 8 +NX_Q0JRZ9 810 88924 6.42 0 Clathrin-coated pit;Cytoplasmic vesicle;Centrosome;Cytosol NA PE1 5 +NX_Q0P140 79 8416 4.93 0 NA NA PE5 1 +NX_Q0P5N6 197 20936 8.57 0 NA NA PE1 17 +NX_Q0P5P2 114 13463 9.39 0 Secreted NA PE1 17 +NX_Q0P641 193 22038 9.47 0 Golgi apparatus NA PE2 2 +NX_Q0P651 414 46954 9.37 0 Secreted;Nucleus membrane NA PE1 4 +NX_Q0P670 501 57131 9.69 1 Membrane NA PE1 17 +NX_Q0P6D2 419 46420 6.38 1 Endoplasmic reticulum membrane NA PE1 18 +NX_Q0P6D6 951 110484 6.05 0 Cell membrane;Cytosol NA PE1 11 +NX_Q0P6H9 643 73133 9.34 6 Nucleus;Cytosol;Nucleolus;Membrane;Nucleus NA PE1 15 +NX_Q0PNE2 266 29793 6.36 0 Nucleus;Cytosol;Centrosome NA PE1 3 +NX_Q0VAA2 488 54535 5.22 0 NA NA PE1 14 +NX_Q0VAA5 305 34777 9.51 0 Nucleus;Nucleoplasm NA PE1 3 +NX_Q0VAF6 134 14405 8.11 0 Secretory vesicle membrane NA PE1 19 +NX_Q0VAK6 560 64914 5.42 0 Cytoskeleton;Cytoplasm;M line;A band Nemaline myopathy 10 PE1 3 +NX_Q0VAM2 473 55359 8.19 0 Nucleus;Early endosome;Late endosome;Midbody NA PE1 4 +NX_Q0VAQ4 97 10679 4.21 1 Cytoplasmic vesicle membrane;Cell membrane;Cell membrane;Nucleoplasm NA PE1 12 +NX_Q0VD83 1088 114874 4.38 0 Cell membrane NA PE1 16 +NX_Q0VD86 236 26817 6.92 0 Nucleoplasm;Nucleus;Nucleus NA PE1 17 +NX_Q0VDD5 57 6478 11.21 0 NA NA PE5 17 +NX_Q0VDD7 668 69556 4.71 0 Nucleoplasm NA PE1 19 +NX_Q0VDD8 3507 399895 6.52 0 Centrosome;Cilium axoneme NA PE1 1 +NX_Q0VDE8 80 9465 4.68 1 Membrane;Nucleus NA PE2 20 +NX_Q0VDF9 509 54794 5.41 0 Cytosol NA PE1 10 +NX_Q0VDG4 424 48544 5.38 0 Cytoplasmic vesicle;Cytosol NA PE1 2 +NX_Q0VDI3 215 24217 8.91 3 Membrane;Nucleoplasm NA PE1 5 +NX_Q0VF49 1180 135305 8.53 0 NA NA PE1 2 +NX_Q0VF96 1302 149079 5.51 0 Cell junction;Tight junction Aromatase excess syndrome PE1 15 +NX_Q0VFX4 171 18056 8.78 0 NA NA PE2 12 +NX_Q0VFZ6 552 66403 8.92 0 NA NA PE1 2 +NX_Q0VG06 881 93433 5.12 0 Cytosol;Nucleus;Nucleoplasm;Cytoskeleton NA PE1 17 +NX_Q0VG73 95 10763 6.38 0 NA NA PE5 3 +NX_Q0VG99 397 41760 7.05 0 Nucleus Spondylocostal dysostosis 2, autosomal recessive PE1 15 +NX_Q0VGE8 651 75725 9.44 0 Nucleolus;Nucleus NA PE1 19 +NX_Q0VGL1 99 10741 6.07 0 Lysosome;Cytoplasmic vesicle NA PE1 7 +NX_Q0WX57 530 59711 8.35 0 Nucleolus;Endoplasmic reticulum NA PE1 4 +NX_Q0Z7S8 132 15093 7.79 0 Cytoplasm NA PE1 8 +NX_Q0ZGT2 675 80658 5.31 0 Cytoplasm;Cell membrane;Adherens junction;Z line;Cytoskeleton Cardiomyopathy, dilated 1CC;Cardiomyopathy, familial hypertrophic 20 PE1 1 +NX_Q0ZLH3 352 39913 9.18 0 Mitochondrion Deafness, autosomal recessive, 59 PE1 2 +NX_Q10469 447 51550 8.99 1 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2A PE1 14 +NX_Q10471 571 64733 8.63 1 Golgi apparatus;Golgi apparatus;Golgi stack membrane;Secreted NA PE1 1 +NX_Q10472 559 64219 7.83 1 Secreted;Golgi stack membrane NA PE1 18 +NX_Q10567 949 104637 4.94 0 Golgi apparatus;Cytoplasmic vesicle;Golgi apparatus;Clathrin-coated vesicle membrane NA PE1 22 +NX_Q10570 1443 160884 5.99 0 Nucleoplasm;Nucleoplasm NA PE1 8 +NX_Q10571 1320 136001 6.22 0 Nucleoplasm NA PE1 22 +NX_Q10586 325 34349 9.34 0 Nucleus NA PE1 19 +NX_Q10587 303 33248 5.81 0 Nucleus NA PE1 22 +NX_Q10588 318 35724 7.97 0 Cell membrane NA PE1 4 +NX_Q10589 180 19769 5.43 1 Cell membrane;Cell membrane;Cytosol;Cell membrane;Apical cell membrane;trans-Golgi network;Golgi apparatus;Late endosome;Membrane raft;Cytoplasm NA PE1 19 +NX_Q10713 525 58253 6.45 0 Mitochondrion matrix;Mitochondrion inner membrane;Mitochondrion Spinocerebellar ataxia, autosomal recessive, 2 PE1 9 +NX_Q107X0 134 14401 9.73 0 Cytoplasm;Nucleus NA PE5 19 +NX_Q10981 343 39017 8.69 1 Golgi stack membrane;Cell membrane;Cytosol NA PE1 19 +NX_Q11128 374 43008 8.54 1 Golgi stack membrane NA PE2 19 +NX_Q11130 342 39239 10.07 1 Golgi stack membrane;Golgi apparatus NA PE1 9 +NX_Q11201 340 39075 9.21 1 Secreted;Golgi stack membrane NA PE1 8 +NX_Q11203 375 42171 9.1 1 Golgi stack membrane;Secreted Mental retardation, autosomal recessive 12;Epileptic encephalopathy, early infantile, 15 PE1 1 +NX_Q11206 333 38045 9.45 1 Secreted;Golgi stack membrane NA PE1 11 +NX_Q12756 1690 191064 5.86 0 Cytosol;Cytoskeleton Mental retardation, autosomal dominant 9;Neuropathy, hereditary sensory, 2C;Spastic paraplegia 30, autosomal recessive PE1 2 +NX_Q12765 414 46382 4.66 0 Cytoplasm;Cytosol NA PE1 7 +NX_Q12766 1538 168334 8.39 0 Nucleolus;Nucleus NA PE1 5 +NX_Q12767 1356 151151 5.99 10 Membrane NA PE1 17 +NX_Q12768 1159 134286 6.54 0 Early endosome;Cytosol;Endoplasmic reticulum;Nucleoplasm Ritscher-Schinzel syndrome 1;Spastic paraplegia 8, autosomal dominant PE1 8 +NX_Q12769 1436 162121 5.31 0 Nuclear pore complex NA PE1 11 +NX_Q12770 1279 139729 6.41 8 Endoplasmic reticulum membrane;Golgi apparatus membrane;COPII-coated vesicle membrane NA PE1 3 +NX_Q12772 1141 123688 8.72 2 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Mitochondrion;COPII-coated vesicle membrane;Nucleus;Golgi apparatus membrane;Nucleoplasm NA PE1 22 +NX_Q12774 1597 176799 5.37 0 Cytosol;Nucleoplasm;Cell membrane;Cytoplasm;Nucleus;Podosome NA PE1 7 +NX_Q12778 655 69662 6.28 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Rhabdomyosarcoma 2 PE1 13 +NX_Q12788 808 89035 6.44 0 Nucleolus;Nucleolus NA PE1 16 +NX_Q12789 2109 238875 7.01 0 Nucleus;Nucleus;Nucleolus NA PE1 16 +NX_Q12791 1236 137560 6.66 7 Cell membrane Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PE1 10 +NX_Q12792 350 40283 6.48 0 Cytoplasm;Cytosol;Cytoplasm;Cytoskeleton NA PE1 12 +NX_Q12794 435 48368 6.31 0 Lysosome;Secreted Mucopolysaccharidosis 9 PE1 3 +NX_Q12796 327 35225 10.51 0 Nucleus;Nucleus;Nucleolus NA PE1 6 +NX_Q12797 758 85863 4.92 1 Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane;Endoplasmic reticulum Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs PE1 8 +NX_Q12798 172 19570 4.79 0 Centrosome NA PE1 18 +NX_Q12799 353 38267 8.46 0 NA NA PE2 6 +NX_Q12800 502 57256 5.53 0 Nucleoplasm;Cytosol;Nucleus NA PE1 12 +NX_Q12802 2813 307550 5.12 0 Cytosol;Cytosol;Cytoplasm;Cell cortex;Nucleus;Membrane NA PE1 15 +NX_Q12805 493 54641 4.95 0 Mitochondrion;Extracellular space;Extracellular matrix Doyne honeycomb retinal dystrophy PE1 2 +NX_Q12809 1159 126655 8.2 6 Cell membrane Long QT syndrome 2;Short QT syndrome 1 PE1 7 +NX_Q12815 778 83857 7.2 0 Cytoplasm NA PE1 12 +NX_Q12816 1431 143716 9.18 0 Nucleus;Nucleolus NA PE1 X +NX_Q12824 385 44141 5.86 0 Nucleus;Nucleolus;Nucleoplasm Schwannomatosis 1;Coffin-Siris syndrome 3;Rhabdoid tumor predisposition syndrome 1 PE1 22 +NX_Q12829 278 30956 9.68 0 Cell membrane NA PE1 17 +NX_Q12830 3046 338262 6.15 0 Cytoplasm;Nucleus NA PE1 17 +NX_Q12834 499 54723 9.33 0 Cytosol;Nucleoplasm;Centrosome;Spindle pole NA PE1 1 +NX_Q12836 540 59400 6.23 1 Extracellular matrix;Cell membrane NA PE1 1 +NX_Q12837 409 43087 9.33 0 Nucleus speckle;Nucleus;Cytoplasm;Cell membrane NA PE1 4 +NX_Q12840 1032 117378 5.65 0 Spindle;Perinuclear region;Cytoskeleton;Nucleoplasm;Cytosol Myoclonus, intractable, neonatal;Spastic paraplegia 10, autosomal dominant PE1 12 +NX_Q12841 308 34986 5.39 0 Cytosol;Secreted;Cytoplasmic vesicle NA PE1 3 +NX_Q12846 297 34180 5.92 1 Cell membrane;Cell membrane NA PE1 16 +NX_Q12849 480 53126 5.83 0 Cytoplasm;Mitochondrion;Cytoplasm;Mitochondrion nucleoid NA PE1 4 +NX_Q12851 820 91556 5.91 0 Cytoplasm;Golgi apparatus membrane;Cytoplasmic vesicle;Basolateral cell membrane NA PE1 11 +NX_Q12852 859 93219 6.03 0 Nucleus;Cytoplasm;Membrane;Cell junction NA PE1 12 +NX_Q12857 509 55944 8.66 0 Nucleoplasm;Nucleus Brain malformations and urinary tract defects PE1 1 +NX_Q12860 1018 113320 5.62 0 Cell membrane Myopathy, congenital, Compton-North PE1 12 +NX_Q12864 832 92219 4.99 1 Cell junction;Cell membrane NA PE1 8 +NX_Q12866 999 110249 5.51 1 Endoplasmic reticulum;Membrane;Cytosol;Cell membrane Retinitis pigmentosa 38 PE1 2 +NX_Q12870 199 20816 9.97 0 Nucleus speckle;Nucleus NA PE2 20 +NX_Q12872 951 104822 8.11 0 Cytosol;Nucleus;Cell membrane;Nucleus NA PE1 12 +NX_Q12873 2000 226592 6.92 0 Microtubule organizing center;Nucleus;Centrosome;Nucleus;Nucleolus NA PE1 17 +NX_Q12874 501 58849 5.27 0 Nucleus speckle;Nucleoplasm NA PE1 1 +NX_Q12879 1464 165283 6.67 3 Cell membrane;Postsynaptic cell membrane Epilepsy, focal, with speech disorder and with or without mental retardation PE1 16 +NX_Q12882 1025 111401 6.8 0 Cytoplasm Dihydropyrimidine dehydrogenase deficiency PE1 1 +NX_Q12884 760 87713 6.21 1 Cell surface;Cell membrane;Lamellipodium membrane;Invadopodium membrane;Ruffle membrane;Membrane;Secreted;Cytoplasm NA PE1 2 +NX_Q12887 443 48910 9.36 7 Mitochondrion membrane;Nucleolus;Cytosol;Mitochondrion Mitochondrial complex IV deficiency;Leigh syndrome PE1 17 +NX_Q12888 1972 213574 4.62 0 Chromosome;Kinetochore;Nucleus;Nucleoplasm;Nucleus NA PE1 15 +NX_Q12889 678 75421 8.9 0 Secretory vesicle NA PE1 1 +NX_Q12891 473 53860 8.47 0 Cell membrane;Endoplasmic reticulum NA PE1 3 +NX_Q12893 351 38197 8.31 4 Golgi apparatus;Golgi stack membrane NA PE1 3 +NX_Q12894 506 54814 8.21 0 Nucleoplasm NA PE1 3 +NX_Q12899 539 62166 4.98 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA PE1 6 +NX_Q12901 538 62081 8.81 0 Nucleoplasm;Cytosol;Nucleus NA PE1 19 +NX_Q12904 312 34353 8.61 0 Cytosol;Golgi apparatus;Nucleus;Cytosol;Secretory vesicle;Secreted;Endoplasmic reticulum Leukodystrophy, hypomyelinating, 3 PE1 4 +NX_Q12905 390 43062 5.19 0 Nucleus;Nucleolus;Nucleolus;Nucleolus;Nucleus;Cytoplasm;Nucleus NA PE1 1 +NX_Q12906 894 95338 8.86 0 Nucleus;Cytoplasm;Nucleolus;Nucleolus;Nucleoplasm;Mitochondrion NA PE1 19 +NX_Q12907 356 40229 6.46 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus membrane;Endoplasmic reticulum membrane NA PE1 5 +NX_Q12908 348 37714 6.79 7 Membrane Primary bile acid malabsorption PE1 13 +NX_Q12912 555 62122 5.62 1 Nucleus;Cytosol;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cytoplasm;Membrane;Nucleus envelope;Centrosome;Spindle pole;Chromosome NA PE1 12 +NX_Q12913 1337 145941 5.38 1 Cell membrane;Ruffle membrane;Cell junction NA PE1 11 +NX_Q12918 225 25415 5.95 1 Membrane;Nucleoplasm;Cytosol NA PE1 12 +NX_Q12923 2485 276906 5.99 0 Nucleus;Cell membrane;Lamellipodium;Cytoskeleton;Cytosol NA PE1 4 +NX_Q12926 359 39504 9.22 0 NA NA PE1 9 +NX_Q12929 822 91882 7.1 0 Synaptosome;Golgi apparatus;Cell cortex;Ruffle membrane;Growth cone;Stereocilium Deafness, autosomal recessive, 102 PE1 12 +NX_Q12931 704 80110 8.3 0 Mitochondrion;Mitochondrion matrix;Mitochondrion inner membrane;Mitochondrion NA PE1 16 +NX_Q12933 501 55859 7.66 0 Cytosol;Cytoplasm NA PE1 9 +NX_Q12934 665 74544 5.09 0 Cytosol;Cell membrane;Cytoskeleton;Cell cortex;Cell membrane Cataract 33, multiple types PE1 20 +NX_Q12946 379 40122 9.24 0 Nucleus;Nucleoplasm Alveolar capillary dysplasia with misalignment of pulmonary veins PE1 16 +NX_Q12947 444 45993 9.2 0 Nucleus NA PE1 6 +NX_Q12948 553 56789 8.7 0 Nucleus;Nucleoplasm;Cytosol Axenfeld-Rieger syndrome 3;Anterior segment dysgenesis 3 PE1 6 +NX_Q12950 439 47309 9.38 0 Nucleus NA PE2 9 +NX_Q12951 378 40973 5.89 0 Nucleus;Nucleolus;Cytoplasmic vesicle NA PE1 5 +NX_Q12952 345 36490 9.64 0 Nucleus NA PE1 16 +NX_Q12955 4377 480410 6.07 0 Postsynaptic cell membrane;Cytoskeleton;Axon;Cell membrane;Golgi apparatus;Sarcolemma;Lysosome Mental retardation, autosomal recessive 37 PE1 10 +NX_Q12959 904 100455 5.51 0 Cytoplasmic vesicle;Cell membrane;Postsynaptic density;Synapse;Sarcolemma;Membrane;Basolateral cell membrane;Endoplasmic reticulum membrane NA PE1 3 +NX_Q12962 218 21711 6.12 0 Nucleus;Nucleus NA PE1 11 +NX_Q12965 1108 127062 9.01 0 Cytoplasm;Cytoskeleton;Cytoplasmic vesicle;Clathrin-coated vesicle;Cell junction Focal segmental glomerulosclerosis 6 PE1 15 +NX_Q12967 914 100607 5.52 0 Nucleus;Cytoplasm;Nucleus NA PE1 9 +NX_Q12968 1075 115594 5.91 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA PE1 16 +NX_Q12972 351 38479 6.87 0 Nucleus speckle;Nucleus;Nucleus speckle;Cytoplasm;Nucleoplasm NA PE1 1 +NX_Q12974 167 19127 8.67 0 Cytoplasm;Early endosome;Cell membrane NA PE1 1 +NX_Q12979 859 97598 6.12 0 Cytosol;Nucleoplasm NA PE1 17 +NX_Q12980 569 63605 6.5 0 Cytosol;Lysosome membrane Epilepsy, familial focal, with variable foci 3 PE1 16 +NX_Q12981 228 26132 9.06 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Mitochondrion NA PE1 5 +NX_Q12982 314 36018 4.7 0 Cytoplasm;Perinuclear region NA PE1 15 +NX_Q12983 259 27832 6.66 1 Cytosol;Mitochondrion;Mitochondrion outer membrane NA PE1 10 +NX_Q12986 1120 124395 8.67 0 Nucleus;Cytosol;Nucleus NA PE1 9 +NX_Q12988 150 16966 5.66 0 Nucleus speckle;Cytoplasm;Nucleus Neuronopathy, distal hereditary motor, 2C PE1 5 +NX_Q12996 717 82922 8.26 0 Nucleus;Nucleoplasm;Nucleus NA PE1 11 +NX_Q12999 210 23053 8.3 4 Membrane NA PE2 12 +NX_Q13002 908 102583 8.05 3 Cell membrane;Postsynaptic cell membrane Mental retardation, autosomal recessive 6 PE1 6 +NX_Q13003 919 104037 7.28 3 Cell membrane;Postsynaptic cell membrane NA PE1 1 +NX_Q13007 206 23825 8.95 0 Secreted NA PE1 1 +NX_Q13009 1591 177508 6.17 0 Nucleoplasm;Cell junction;Cytosol;Nucleus membrane;Cell junction;Cell membrane NA PE1 21 +NX_Q13011 328 35816 8.16 0 Mitochondrion;Mitochondrion;Peroxisome NA PE1 19 +NX_Q13015 90 10061 4.39 0 Cytoplasm;Cytosol;Nucleus;Cytoplasm;Centrosome;Nucleoplasm NA PE1 1 +NX_Q13017 1502 172460 6.18 0 Cytoplasm;Endoplasmic reticulum;Cytosol;Membrane NA PE1 14 +NX_Q13018 1463 168600 5.73 1 Secreted;Cell membrane;Cytosol;Secreted NA PE1 2 +NX_Q13021 153 17350 6.15 4 Membrane NA PE1 2 +NX_Q13023 2319 256720 4.9 0 Sarcoplasmic reticulum;Nucleus membrane NA PE1 14 +NX_Q13029 1718 188915 7.02 0 Nucleus;Nucleus;Golgi apparatus NA PE1 1 +NX_Q13033 797 87209 5.17 0 Cytosol;Nucleoplasm;Cytoplasm;Membrane;Cytoskeleton NA PE1 14 +NX_Q13042 620 71656 5.55 0 Cytoplasm;Centrosome;Spindle NA PE1 13 +NX_Q13043 487 55630 4.97 0 Cytoplasm;Nucleus;Cytosol;Nucleus;Nucleoplasm;Cytoplasm;Nucleus T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PE1 20 +NX_Q13045 1269 144751 5.75 0 Cytosol;Nucleus;Nucleoplasm;Centrosome;Microtubule organizing center;Cytoskeleton;Focal adhesion NA PE1 17 +NX_Q13046 419 47001 8.66 0 Secreted NA PE5 19 +NX_Q13049 653 71989 6.59 0 Cytoplasm;Cytoskeleton Limb-girdle muscular dystrophy 2H;Bardet-Biedl syndrome 11 PE1 9 +NX_Q13057 564 62329 6.51 0 Cytosol;Nucleoplasm;Cytoplasm;Mitochondrion matrix Neurodegeneration with brain iron accumulation 6 PE1 17 +NX_Q13061 729 81595 9.42 1 Cell membrane;Cytosol;Cell membrane;Sarcoplasmic reticulum membrane Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness PE1 6 +NX_Q13064 507 55645 5.52 0 Nucleoplasm;Cytosol;Cell membrane Precocious puberty, central 2 PE1 15 +NX_Q13065 139 15610 4.39 0 NA NA PE1 X +NX_Q13066 116 12786 4.34 0 NA NA PE1 X +NX_Q13068 117 12885 4.12 0 Nucleus;Cytoplasm NA PE1 X +NX_Q13069 117 12924 4.19 0 NA NA PE1 X +NX_Q13070 117 12892 4.19 0 NA NA PE1 X +NX_Q13072 43 4810 5 0 Secreted NA PE2 13 +NX_Q13075 1403 159582 5.68 0 NA NA PE1 5 +NX_Q13077 416 46164 5.77 0 Cytoplasm;Nucleoplasm NA PE1 9 +NX_Q13084 256 30157 8.34 0 Mitochondrion;Mitochondrion NA PE1 16 +NX_Q13085 2346 265554 5.95 0 Cytoskeleton;Nucleolus;Cytoplasm;Cytosol Acetyl-CoA carboxylase 1 deficiency PE1 17 +NX_Q13087 525 58206 4.89 0 Cytosol;Endoplasmic reticulum lumen;Nucleoplasm NA PE1 16 +NX_Q13093 441 50077 7.23 0 Extracellular space;Cytoplasmic vesicle Asthma;Platelet-activating factor acetylhydrolase deficiency;Atopic hypersensitivity PE1 6 +NX_Q13094 533 60188 5.89 0 Cytoplasm NA PE1 5 +NX_Q13098 491 55537 6.3 0 Cytoplasm;Nucleus NA PE1 17 +NX_Q13099 833 94270 6.2 0 Centriole;Cilium;Cilium basal body NA PE1 13 +NX_Q13103 211 24338 8.59 0 Secreted NA PE1 2 +NX_Q13105 803 87928 6 0 Nucleus NA PE1 1 +NX_Q13106 437 49865 9.11 0 Nucleus NA PE2 19 +NX_Q13107 963 108565 5.47 0 Cytosol;Cytoplasm;Nucleus;Cell membrane NA PE1 3 +NX_Q13111 956 106926 5.69 0 Nucleus;Cytosol;Nucleus NA PE1 19 +NX_Q13112 559 61493 7.18 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 21 +NX_Q13113 114 12227 4.79 1 Cytosol;Nucleus speckle;Membrane NA PE1 1 +NX_Q13114 568 64490 8.23 0 Cytoplasm;Endosome;Mitochondrion Herpes simplex encephalitis 3 PE1 14 +NX_Q13115 394 42953 7.1 0 Nucleus;Nucleoplasm NA PE1 8 +NX_Q13117 558 63111 8.84 0 Nucleus;Cytoplasm Spermatogenic failure Y-linked 2 PE1 Y +NX_Q13118 480 52555 9.29 0 Nucleus NA PE1 8 +NX_Q13123 557 65602 6.26 0 Nucleus;Nucleus speckle;Nucleoplasm;Chromosome;Spindle pole NA PE1 5 +NX_Q13126 283 31236 6.75 0 Cytosol;Cytoplasm;Nucleus Diaphyseal medullary stenosis with malignant fibrous histiocytoma PE1 9 +NX_Q13127 1097 121872 6.3 0 Cytosol;Nucleus;Nucleoplasm Wilms tumor 6;Fibromatosis, gingival, 5 PE1 4 +NX_Q13129 1914 217953 6.32 0 Nucleus;Nucleus NA PE1 1 +NX_Q13131 559 64009 8.32 0 Nucleus speckle;Cytoplasm;Nucleus NA PE1 5 +NX_Q13133 447 50396 7.61 0 Nucleus NA PE1 11 +NX_Q13136 1202 135779 5.91 0 Cytosol;Focal adhesion;Cytoplasm NA PE1 11 +NX_Q13137 446 52254 4.94 0 Nucleus;Perinuclear region;Cytoskeleton;Autophagosome membrane;Cytoplasmic vesicle;Cytosol;Cytoplasm NA PE1 17 +NX_Q13144 721 80380 4.98 0 Cytosol Leukodystrophy with vanishing white matter PE1 3 +NX_Q13145 260 29108 7.91 1 Membrane;Cytoplasmic vesicle;Lipid droplet;Nucleolus NA PE1 10 +NX_Q13148 414 44740 5.85 0 Nucleus;Nucleus;Nucleoplasm Amyotrophic lateral sclerosis 10 PE1 1 +NX_Q13151 305 30841 9.34 0 Nucleoplasm;Nucleus NA PE1 5 +NX_Q13153 545 60647 5.55 0 Cytosol;Cytoplasm;Focal adhesion;Cell membrane;Cell membrane;Ruffle membrane;Invadopodium NA PE1 11 +NX_Q13155 320 35349 8.45 0 Cytosol;Cytosol;Nucleus NA PE1 7 +NX_Q13156 261 28868 6.07 0 Nucleus NA PE1 X +NX_Q13158 208 23279 5.48 0 Cytosol;Nucleoplasm Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations PE1 11 +NX_Q13162 271 30540 5.86 0 Cytoplasm;Endoplasmic reticulum;Cytosol;Endoplasmic reticulum NA PE1 X +NX_Q13163 448 50112 5.98 0 Cytoskeleton;Nucleolus NA PE1 15 +NX_Q13164 816 88386 5.6 0 Cytosol;PML body;Nucleus;Cytoplasm;Nucleus NA PE1 17 +NX_Q13166 79 9224 8 0 NA NA PE2 7 +NX_Q13177 524 58043 5.69 0 Cytoplasmic vesicle;Nucleus;Cytoplasm;Nucleus;Cytoplasm;Nucleus;Perinuclear region;Membrane NA PE1 3 +NX_Q13183 592 64410 6.55 12 Membrane NA PE1 17 +NX_Q13185 183 20811 5.23 0 Nucleus;Nucleus;Nucleus NA PE1 7 +NX_Q13188 491 56301 5.12 0 Cytosol;Cytoplasm;Nucleus;Cytoskeleton;Cytoplasm NA PE1 8 +NX_Q13190 355 39673 9.21 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus membrane;Golgi apparatus;Nucleoplasm NA PE1 11 +NX_Q13191 982 109450 8.15 0 Cytosol;Nucleoplasm;Cytoplasm NA PE1 3 +NX_Q13200 908 100200 5.08 0 NA NA PE1 3 +NX_Q13201 1228 138110 8.15 0 Endoplasmic reticulum;Secreted NA PE1 4 +NX_Q13202 625 65827 8.58 0 Cytoplasm;Nucleus;Cytosol NA PE1 11 +NX_Q13203 477 52050 6.3 0 Nucleolus;Mitochondrion;Nucleus NA PE1 1 +NX_Q13206 875 100888 8.72 0 Nucleolus;Nucleolus;Cytoplasm;Nucleus NA PE1 11 +NX_Q13207 712 75066 9.13 0 Cytosol;Nucleoplasm;Nucleus NA PE1 17 +NX_Q13214 749 83122 9.17 0 Secreted;Endoplasmic reticulum NA PE1 3 +NX_Q13216 396 44055 5.91 0 Nucleus speckle;Nucleus UV-sensitive syndrome 2;Cockayne syndrome A PE1 5 +NX_Q13217 504 57580 5.83 0 Endoplasmic reticulum;Endoplasmic reticulum Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus PE1 13 +NX_Q13219 1627 180973 5.76 0 Cytosol;Secreted;Cell membrane NA PE1 9 +NX_Q13224 1484 166367 6.47 3 Cell membrane;Postsynaptic cell membrane Epileptic encephalopathy, early infantile, 27;Mental retardation, autosomal dominant 6 PE1 12 +NX_Q13227 327 36689 9.52 0 Nucleus;Nucleoplasm NA PE1 17 +NX_Q13228 472 52391 5.93 0 Cytosol;Nucleus;Membrane;Nucleolus NA PE1 1 +NX_Q13231 466 51681 6.55 0 Secreted;Lysosome NA PE1 1 +NX_Q13232 169 19015 7.71 0 Cytosol;Nucleoplasm NA PE1 16 +NX_Q13233 1512 164470 7.93 0 Cytosol 46,XY sex reversal 6 PE1 5 +NX_Q13237 762 87432 8.67 0 Apical cell membrane NA PE1 4 +NX_Q13239 276 31156 7.61 0 Nucleus membrane;Cytoplasm;Endosome NA PE1 8 +NX_Q13241 179 20513 5.19 1 Membrane NA PE1 12 +NX_Q13242 221 25542 8.74 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q13243 272 31264 11.59 0 Nucleus;Nucleolus;Nucleus NA PE1 14 +NX_Q13247 344 39587 11.42 0 Nucleus;Nucleus speckle;Nucleus speckle NA PE1 20 +NX_Q13253 232 25774 9.13 0 Secreted Brachydactyly B2;Stapes ankylosis with broad thumb and toes;Symphalangism, proximal 1A;Multiple synostoses syndrome 1;Tarsal-carpal coalition syndrome PE1 17 +NX_Q13255 1194 132357 6.27 7 Cytoplasmic vesicle;Cell membrane Spinocerebellar ataxia, autosomal recessive, 13 PE1 6 +NX_Q13257 205 23510 5.02 0 Nucleoplasm;Nucleus;Kinetochore;Cytoplasm;Spindle pole NA PE1 4 +NX_Q13258 359 40271 9.39 7 Cell membrane Asthma-related traits 1 PE2 14 +NX_Q13261 267 28233 8.64 1 Cell membrane;Cytosol;Membrane;Nucleus membrane;Endoplasmic reticulum membrane;Extracellular space;Golgi apparatus membrane;Cytoplasmic vesicle membrane NA PE1 10 +NX_Q13263 835 88550 5.52 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q13268 280 29927 9.21 0 Mitochondrion matrix;Nucleus;Mitochondrion;Nucleus NA PE1 14 +NX_Q13275 785 88381 8.59 0 Secreted NA PE1 3 +NX_Q13277 289 33155 5.31 1 Nucleus;Nucleus;Cytosol;Membrane NA PE1 11 +NX_Q13278 110 11984 8.36 0 NA NA PE5 11 +NX_Q13283 466 52164 5.36 0 Nucleus;Cell membrane;Cytoplasm;Cytosol;Cytoplasm;Cytosol;Cytoplasmic granule;Cell membrane;Nucleus NA PE1 5 +NX_Q13285 461 51636 7.81 0 Nucleus 46,XY sex reversal 3;Spermatogenic failure 8;Premature ovarian failure 7;46,XX sex reversal 4;Adrenal insufficiency, NR5A1-related PE1 9 +NX_Q13286 438 47623 5.93 6 Lysosome;Late endosome;Lysosome membrane Ceroid lipofuscinosis, neuronal, 3 PE1 16 +NX_Q13287 307 35057 5.24 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 2 +NX_Q13291 335 37231 8.7 1 Cell membrane;Secreted;Cell membrane NA PE1 1 +NX_Q13296 93 10499 4.17 0 NA NA PE1 11 +NX_Q13303 367 41000 9.11 0 Synaptosome;Cytoplasm;Membrane;Cell membrane;Axon;Cytoskeleton NA PE1 1 +NX_Q13304 367 40989 9.58 7 Cell membrane;Cytoplasmic vesicle NA PE2 2 +NX_Q13308 1070 118392 6.67 1 Membrane;Cell junction NA PE1 6 +NX_Q13309 424 47761 6.67 0 Nucleus;Nucleus;Cytoplasm;Cytosol NA PE1 5 +NX_Q13310 644 70783 9.31 0 Cytosol;Cytoplasm NA PE1 1 +NX_Q13315 3056 350687 6.39 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus Ataxia telangiectasia PE1 11 +NX_Q13316 513 55782 4 0 Extracellular matrix;Cytoplasm;Nucleus Hypophosphatemic rickets, autosomal recessive, 1 PE1 4 +NX_Q13319 367 38705 9.76 0 Cell membrane NA PE1 2 +NX_Q13322 594 67231 8.06 0 Nucleus membrane;Cytoplasmic vesicle;Cytoplasm NA PE1 7 +NX_Q13323 160 18016 4.21 1 Endomembrane system;Mitochondrion membrane NA PE1 22 +NX_Q13324 411 47688 7.87 7 Cell membrane NA PE1 7 +NX_Q13325 482 55847 7 0 Ruffle membrane;Cell membrane;Cytoplasmic vesicle NA PE1 10 +NX_Q13326 291 32379 5.64 1 Sarcolemma;Cytoskeleton;Nucleoplasm Limb-girdle muscular dystrophy 2C PE1 13 +NX_Q13330 715 80786 9.34 0 Cytosol;Cytoplasm;Nucleus;Nucleus envelope;Nucleoplasm;Cytoskeleton NA PE1 14 +NX_Q13332 1948 217041 6.06 1 Cytosol;Cell membrane;Cell membrane;Axon;Perikaryon;Synaptic vesicle membrane;Synaptosome;Postsynaptic density NA PE1 19 +NX_Q13336 389 42528 6.79 8 Cell membrane;Cytoplasmic vesicle;Basolateral cell membrane NA PE1 18 +NX_Q13342 867 98223 5.21 0 Mitochondrion;Nucleolus;Nucleus;PML body;Cytoplasm NA PE1 2 +NX_Q13347 325 36502 5.38 0 Cytoplasm;Nucleoplasm;Cytosol NA PE1 1 +NX_Q13349 1161 126758 5.5 1 Membrane NA PE1 16 +NX_Q13351 362 38221 6.67 0 Nucleus Anemia, congenital dyserythropoietic, 4 PE1 19 +NX_Q13352 177 20194 9.13 0 Nucleoplasm;Nucleus;Centromere;Kinetochore;Cytoplasm NA PE1 1 +NX_Q13356 520 58823 8.92 0 Nucleus;Nucleoplasm NA PE1 22 +NX_Q13360 481 54782 8.53 0 Nucleus NA PE1 19 +NX_Q13361 173 19612 5.64 0 Extracellular matrix Aortic aneurysm, familial thoracic 9 PE1 12 +NX_Q13362 524 61061 6.41 0 Cytosol;Golgi apparatus;Nucleoplasm;Nucleus;Centromere NA PE1 14 +NX_Q13363 440 47535 6.28 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 4 +NX_Q13367 1082 119059 5.43 0 Clathrin-coated vesicle membrane;Golgi apparatus;Cytosol;Golgi apparatus;Nucleoplasm Epileptic encephalopathy, early infantile, 48 PE1 15 +NX_Q13368 585 66152 6.34 0 Nucleoplasm;Cytosol NA PE1 17 +NX_Q13370 1112 124333 5.61 6 Membrane;Endoplasmic reticulum NA PE1 11 +NX_Q13371 301 34282 4.65 0 Cytoplasm;Cytosol NA PE1 9 +NX_Q13387 824 87975 4.36 0 Cytoplasm NA PE1 22 +NX_Q13393 1074 124184 8.91 0 Perinuclear region;Endoplasmic reticulum membrane;Golgi apparatus membrane;Late endosome membrane;Cell membrane Cardiac valvular defect, developmental PE1 3 +NX_Q13394 359 40956 8.94 0 Nucleus NA PE1 13 +NX_Q13395 1621 181675 6.66 0 Nucleus speckle NA PE1 1 +NX_Q13398 564 64535 8.83 0 Cytoplasm;Mitochondrion;Nucleus NA PE1 19 +NX_Q13401 168 18716 4.52 0 NA NA PE5 7 +NX_Q13402 2215 254390 8.79 0 Cytosol;Cytoskeleton;Cell cortex;Cytoplasm Deafness, autosomal recessive, 2;Usher syndrome 1B;Deafness, autosomal dominant, 11 PE1 11 +NX_Q13404 147 16495 7.71 0 Nucleus NA PE1 20 +NX_Q13405 166 19198 9.47 0 Mitochondrion NA PE1 11 +NX_Q13409 638 71457 5.08 0 Nucleus;Endoplasmic reticulum;Cytoskeleton;Nucleolus;Cytosol;Cytoskeleton NA PE1 2 +NX_Q13410 526 58960 5.38 1 Membrane;Secreted NA PE1 6 +NX_Q13415 861 97350 9.34 0 Cell membrane;Cytosol;Nucleus;Nucleus Meier-Gorlin syndrome 1 PE1 1 +NX_Q13416 577 65972 6.07 0 Nucleus;Nucleoplasm;Cytosol NA PE1 2 +NX_Q13418 452 51419 8.3 0 Focal adhesion;Cell membrane;Lamellipodium;Focal adhesion;Cell junction;Sarcomere NA PE1 11 +NX_Q13421 630 68986 6.03 0 Nucleoplasm;Cytoplasmic vesicle;Secreted;Secreted;Golgi apparatus;Cell membrane NA PE1 16 +NX_Q13422 519 57528 6.12 0 Nucleoplasm;Cytoplasm;Nucleus;Nucleolus;Cytoplasmic vesicle Immunodeficiency, common variable, 13 PE1 7 +NX_Q13423 1086 113896 8.31 14 Mitochondrion;Mitochondrion inner membrane;Mitochondrion Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency PE1 5 +NX_Q13424 505 53895 6.35 0 Cytoskeleton;Cell junction;Sarcolemma Long QT syndrome 12 PE1 20 +NX_Q13425 540 57950 9.03 0 Cytoskeleton;Secretory vesicle membrane;Cell junction;Membrane NA PE1 16 +NX_Q13426 336 38287 4.91 0 Nucleus;Nucleus Short stature, microcephaly, and endocrine dysfunction PE1 5 +NX_Q13427 754 88617 10.29 0 Nucleus;Cytosol;Nucleus speckle;Nucleus matrix;Nucleus speckle NA PE1 2 +NX_Q13428 1488 152106 9.06 0 Nucleus;Nucleolus;Nucleolus Treacher Collins syndrome 1 PE1 5 +NX_Q13432 240 26962 6 0 Spindle;Spindle pole;Centrosome Immunodeficiency 13 PE1 17 +NX_Q13433 755 85047 6.45 6 Cell membrane NA PE1 18 +NX_Q13434 485 52910 5.08 0 NA NA PE5 X +NX_Q13435 895 100228 5.52 0 Nucleus speckle;Nucleus;Nucleus speckle NA PE1 11 +NX_Q13438 667 75562 4.8 0 Endoplasmic reticulum lumen NA PE1 12 +NX_Q13439 2230 261140 5.33 0 Golgi apparatus;Cytosol;Golgi apparatus;Golgi apparatus membrane;Cytoplasm;Cytoplasmic vesicle NA PE1 3 +NX_Q13442 181 20630 8.84 0 Cytosol;Cell membrane NA PE1 7 +NX_Q13443 819 90556 7.71 1 Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane;Secreted Cone-rod dystrophy 9 PE1 8 +NX_Q13444 863 92959 6.3 1 Endomembrane system;Adherens junction;Cytoplasmic vesicle;Flagellum;Acrosome NA PE1 1 +NX_Q13445 227 25206 4.39 1 Cytoplasmic vesicle;Cell membrane;Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 19 +NX_Q13449 338 37393 6.55 0 Cytosol;Cell membrane NA PE1 3 +NX_Q13451 457 51212 5.71 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 6 +NX_Q13454 348 39676 9.93 4 Endoplasmic reticulum membrane Mental retardation, autosomal recessive 7 PE1 8 +NX_Q13459 2157 243401 8.91 0 Cytosol;Perinuclear region;Cell cortex;Cytoskeleton Celiac disease 4 PE1 19 +NX_Q13461 319 33234 9.72 0 Nucleus Cataract 34, multiple types;Aortic aneurysm, familial thoracic 11;Anterior segment dysgenesis 2 PE1 1 +NX_Q13464 1354 158175 5.66 0 Cytoskeleton;Cytoplasm;Centriole;Golgi apparatus membrane;Bleb;Cell membrane;Lamellipodium;Ruffle NA PE1 18 +NX_Q13465 169 18696 5.75 0 NA NA PE1 3 +NX_Q13467 585 64507 8.69 7 Cell membrane;Golgi apparatus membrane NA PE1 2 +NX_Q13469 925 100146 6.87 0 Cytoplasm;Nucleus;Nucleoplasm;Cytosol NA PE1 20 +NX_Q13470 666 72468 9.57 0 Cytoplasm;Cell junction;Membrane NA PE1 17 +NX_Q13472 1001 112372 8.69 0 NA NA PE1 17 +NX_Q13474 957 107962 5.82 0 Postsynaptic density;Dendrite;Perikaryon;Cell membrane NA PE1 X +NX_Q13477 382 40155 5 1 Membrane NA PE1 19 +NX_Q13478 541 62304 8.06 1 Membrane;Mitochondrion NA PE1 2 +NX_Q13480 694 76616 5.63 0 Cytoplasmic vesicle NA PE1 4 +NX_Q13485 552 60439 6.5 0 Nucleoplasm;Cytosol;Centrosome;Nucleus;Cytoplasm Juvenile polyposis syndrome;Pancreatic cancer;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Myhre syndrome;Colorectal cancer PE1 18 +NX_Q13487 334 35556 5.79 0 Nucleus;Cytosol;Nucleoplasm;Nucleus NA PE1 19 +NX_Q13488 830 92968 6.66 8 Mitochondrion;Membrane Osteopetrosis, autosomal recessive 1 PE1 11 +NX_Q13489 604 68372 5.71 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA PE1 11 +NX_Q13490 618 69900 6.27 0 Cytoplasm;Cytosol;Nucleus;Nucleolus;Nucleus NA PE1 11 +NX_Q13491 265 28989 5.53 4 Cell membrane NA PE1 X +NX_Q13492 652 70755 7.7 0 Cytoplasmic vesicle;Nucleus;Clathrin-coated vesicle;Golgi apparatus;Clathrin-coated pit NA PE1 11 +NX_Q13495 774 83231 8.54 0 Nucleoplasm;Nucleus Hypospadias 2, X-linked PE1 X +NX_Q13496 603 69932 8.38 0 Cytoplasm;Cell membrane;Filopodium;Ruffle;Late endosome;Cell membrane Myopathy, centronuclear, X-linked PE1 X +NX_Q13501 440 47687 5.1 0 Cytosol;P-body;Lysosome;PML body;Late endosome;Autophagosome;Nucleus;Endoplasmic reticulum;Cytosol;Cytoplasmic vesicle Myopathy, distal, with rimmed vacuoles;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;Paget disease of bone 3;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset PE1 5 +NX_Q13503 144 15564 4.29 0 Cytosol;Nucleus;Nucleus;Nucleolus NA PE1 12 +NX_Q13505 466 51477 9.8 1 Membrane;Mitochondrion;Mitochondrion outer membrane NA PE1 1 +NX_Q13506 487 54401 6.24 0 Golgi apparatus;Nucleoplasm;Cell membrane;Nucleus NA PE1 2 +NX_Q13507 836 96009 6.25 6 Membrane Spinocerebellar ataxia 41 PE1 4 +NX_Q13508 389 43923 5.71 0 Cell membrane NA PE1 4 +NX_Q13509 450 50433 4.83 0 Cytoskeleton Fibrosis of extraocular muscles, congenital, 3A;Cortical dysplasia, complex, with other brain malformations 1 PE1 16 +NX_Q13510 395 44660 7.52 0 Lysosome Spinal muscular atrophy with progressive myoclonic epilepsy;Farber lipogranulomatosis PE1 8 +NX_Q13515 415 45880 5.41 0 Cell membrane;Cytoskeleton;Cell cortex;Cell membrane;Cytosol Cataract 12, multiple types PE1 3 +NX_Q13516 323 32385 9.28 0 Cell membrane;Nucleoplasm;Nucleus;Cytoplasm NA PE1 21 +NX_Q13519 176 20295 8.73 0 Secreted NA PE1 8 +NX_Q13520 282 29370 8.88 6 Cytoplasmic vesicle membrane NA PE2 12 +NX_Q13522 171 19011 5.9 0 NA NA PE1 12 +NX_Q13523 1007 116987 10.26 0 Nucleus;Nucleus;Nucleus speckle NA PE1 6 +NX_Q13526 163 18243 8.95 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus speckle;Nucleus NA PE1 19 +NX_Q13530 473 52580 7.43 8 Cell membrane;Golgi apparatus membrane;Perinuclear region NA PE1 20 +NX_Q13535 2644 301367 7.17 0 Chromosome;PML body;Nucleus;Golgi apparatus;Nucleoplasm Seckel syndrome 1;Cutaneous telangiectasia and cancer syndrome, familial PE1 3 +NX_Q13536 156 17231 6.39 0 Nucleus NA PE2 1 +NX_Q13541 118 12580 5.32 0 Cell membrane;Cytoplasm;Cytosol;Nucleoplasm;Nucleus NA PE1 8 +NX_Q13542 120 12939 6.16 0 Nucleoplasm;Mitochondrion NA PE1 10 +NX_Q13546 671 75931 5.92 0 Cytoplasm;Cytosol;Cell membrane;Cell membrane NA PE1 6 +NX_Q13547 482 55103 5.31 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q13554 666 72678 6.87 0 Cytoskeleton;Centrosome;Sarcoplasmic reticulum membrane NA PE1 7 +NX_Q13555 558 62609 7.9 0 Sarcoplasmic reticulum membrane NA PE1 10 +NX_Q13557 499 56369 6.81 0 Sarcoplasmic reticulum membrane;Sarcolemma NA PE1 4 +NX_Q13561 401 44231 5.1 0 Endosome;Centrosome;Centrosome;Membrane NA PE1 12 +NX_Q13562 356 39920 5.2 0 Cytoplasm;Nucleus Maturity-onset diabetes of the young 6;Diabetes mellitus, non-insulin-dependent PE1 2 +NX_Q13563 968 109691 5.49 6 Endoplasmic reticulum;Cytoplasmic vesicle membrane;Endoplasmic reticulum membrane;Cilium membrane;Basolateral cell membrane;Cell membrane Polycystic kidney disease 2 PE1 4 +NX_Q13564 534 60246 5.25 0 Cytoplasm;Nucleus;Cytoskeleton;Centrosome;Cell membrane NA PE1 16 +NX_Q13568 498 56044 5.54 0 Cytoplasm;Nucleus Rheumatoid arthritis;Systemic lupus erythematosus 10;Inflammatory bowel disease 14 PE1 7 +NX_Q13569 410 46053 6.36 0 Nucleus;Nucleus;Nucleoplasm NA PE1 12 +NX_Q13571 262 29937 8.95 5 Cytosol;Lysosome membrane NA PE1 1 +NX_Q13572 414 45621 5.78 0 Mitochondrion NA PE1 14 +NX_Q13573 536 61494 9.52 0 Nucleus;Nucleoplasm NA PE1 14 +NX_Q13574 1117 124128 9.24 0 Nucleus speckle;Cell membrane;Nucleus;Cytoplasm NA PE1 11 +NX_Q13576 1575 180578 5.47 0 Cell membrane;Cytoplasmic vesicle NA PE1 5 +NX_Q13585 617 67369 7.64 7 Cell membrane;Nucleoplasm;Cell membrane NA PE1 X +NX_Q13586 685 77423 6.19 1 Sarcoplasmic reticulum;Cytoskeleton;Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum Myopathy, tubular aggregate, 1;Stormorken syndrome;Immunodeficiency 10 PE1 11 +NX_Q13588 217 25337 6.54 0 NA NA PE1 17 +NX_Q13591 1074 120615 7.03 1 Membrane NA PE1 5 +NX_Q13595 282 32689 11.27 0 Cytoplasmic vesicle;Nucleolus;Nucleus;Nucleus NA PE1 7 +NX_Q13596 522 59070 5.08 0 Endosome;Lamellipodium;Lysosome;Endosome membrane;trans-Golgi network membrane;Early endosome membrane NA PE1 15 +NX_Q13601 381 43665 9.78 0 Nucleolus;Nucleus;Nucleolus;Nucleus;Cytoplasm NA PE1 12 +NX_Q13606 314 36049 8.25 7 Cell membrane NA PE2 11 +NX_Q13607 317 35350 8.65 7 Cell membrane NA PE2 7 +NX_Q13608 980 104061 5.96 0 Nucleoplasm;Cytoplasmic vesicle;Cytoplasm;Peroxisome membrane;Photoreceptor outer segment Peroxisome biogenesis disorder 4A;Peroxisome biogenesis disorder complementation group 4;Peroxisome biogenesis disorder 4B;Heimler syndrome 2 PE1 6 +NX_Q13609 305 35504 9.35 0 Endoplasmic reticulum;Golgi apparatus;Endoplasmic reticulum;Nucleus;Secreted Systemic lupus erythematosus 16 PE1 3 +NX_Q13610 501 55828 4.6 0 Nucleolus;Golgi apparatus;Nucleus NA PE1 12 +NX_Q13613 665 74678 6.69 0 Cytoplasmic vesicle;Cell membrane;Nucleoplasm;Cell membrane;Cytoplasm NA PE1 X +NX_Q13614 643 73381 7.02 0 Cytoplasmic vesicle;Cytoplasm;Early endosome membrane Charcot-Marie-Tooth disease 4B1 PE1 11 +NX_Q13615 1198 133619 5.51 0 Cytosol;Membrane;Nucleoplasm;Cytoplasm NA PE1 22 +NX_Q13616 776 89679 8.19 0 Nucleus;Nucleolus;Cytoplasm NA PE1 7 +NX_Q13617 745 86983 6.46 0 Nucleoplasm NA PE1 10 +NX_Q13618 768 88930 8.68 0 Nucleus;Cytoplasm;Nucleus;Golgi apparatus Pseudohypoaldosteronism 2E PE1 2 +NX_Q13619 759 87680 8.29 0 NA NA PE1 13 +NX_Q13620 913 103982 7.01 0 Nucleus Mental retardation, X-linked, syndromic, 15 PE1 X +NX_Q13621 1099 121450 7.18 12 Membrane Bartter syndrome 1, antenatal PE1 15 +NX_Q13625 1128 125616 5.78 0 Perinuclear region;Cell junction;Cytosol;Nucleus NA PE1 1 +NX_Q13627 763 85584 8.9 0 Nucleolus;Cytosol;Nucleus;Nucleus speckle Mental retardation, autosomal dominant 7 PE1 21 +NX_Q13630 321 35893 6.12 0 Cytosol;Nucleoplasm NA PE1 8 +NX_Q13634 790 88073 4.98 1 Cell membrane NA PE1 5 +NX_Q13635 1447 160545 6.42 12 Golgi apparatus;Membrane Basal cell nevus syndrome;Holoprosencephaly 7;Basal cell carcinoma PE1 9 +NX_Q13636 194 21569 6.59 0 trans-Golgi network membrane;Early endosome;Phagosome;Phagosome membrane;Cytoplasm;trans-Golgi network NA PE1 18 +NX_Q13637 225 24997 6.08 0 Phagosome;Cytosol;Phagosome membrane;Melanosome membrane;Mitochondrion;Melanosome;Mitochondrion outer membrane NA PE1 6 +NX_Q13639 388 43761 8.06 7 Cell membrane;Endosome NA PE1 5 +NX_Q13641 420 46032 6.35 1 Cell membrane;Nucleoplasm NA PE1 6 +NX_Q13642 323 36263 9.25 0 Cytoplasm;Cytosol;Cell membrane;Cytosol;Nucleus Scapuloperoneal myopathy, X-linked dominant;Reducing body myopathy, X-linked 1B, with late childhood or adult onset;Emery-Dreifuss muscular dystrophy 6, X-linked;Myopathy, X-linked, with postural muscle atrophy;Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset PE1 X +NX_Q13643 280 31192 5.79 0 Cytoplasm;Nucleus NA PE1 1 +NX_Q13651 578 63003 5.23 1 Membrane Inflammatory bowel disease 28 PE1 11 +NX_Q13670 270 28555 6.23 0 NA NA PE5 7 +NX_Q13671 783 84099 8.3 0 Cytoplasm;Nucleus;Nucleus membrane;Membrane;Cytoskeleton NA PE1 11 +NX_Q13683 1181 128948 5.47 1 Membrane;Cell membrane;Cytosol Muscular dystrophy congenital due to integrin alpha-7 deficiency PE1 12 +NX_Q13685 434 46751 4.29 0 Cytoplasm;Cell membrane;Cytosol;Cytoskeleton NA PE1 2 +NX_Q13686 389 43832 6.61 0 Mitochondrion;Nucleus NA PE1 14 +NX_Q13698 1873 212350 6.17 24 Sarcolemma Malignant hyperthermia 5;Periodic paralysis hypokalemic 1;Thyrotoxic periodic paralysis 1 PE1 1 +NX_Q13702 412 46328 8.48 0 Cytoskeleton;Cytosol;Cell membrane;Centrosome;Cell membrane;Postsynaptic cell membrane Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Fetal akinesia deformation sequence PE1 11 +NX_Q13705 512 57724 5.46 1 Nucleus;Nucleus;Cytosol;Cell membrane Heterotaxy, visceral, 4, autosomal PE1 3 +NX_Q13724 837 91918 8.97 1 Endoplasmic reticulum;Endoplasmic reticulum membrane Type IIb congenital disorder of glycosylation PE1 2 +NX_Q13733 1029 114166 6.23 10 Cell membrane NA PE1 1 +NX_Q13740 583 65102 5.92 1 Cell membrane;Axon;Dendrite;Secreted NA PE1 3 +NX_Q13748 450 49960 4.98 0 Cytoskeleton NA PE1 13 +NX_Q13751 1172 129572 7.14 0 Nucleolus;Mitochondrion;Basement membrane Generalized atrophic benign epidermolysis bullosa;Epidermolysis bullosa, junctional, Herlitz type;Amelogenesis imperfecta 1A PE1 1 +NX_Q13753 1193 130976 5.83 0 Cytosol;Basement membrane Epidermolysis bullosa, junctional, Herlitz type PE1 1 +NX_Q13761 415 44356 9.53 0 Nucleus;Cytosol;Cytoplasm;Nucleus NA PE1 1 +NX_Q13765 215 23384 4.52 0 Cytoplasm;Cytoplasm;Nucleus NA PE1 12 +NX_Q13769 683 78508 6.41 0 Nucleus;Nucleoplasm;Cytoplasm NA PE1 22 +NX_Q13772 614 69726 5.72 0 Nucleolus;Cytosol;Golgi apparatus NA PE1 10 +NX_Q13790 326 35399 5.42 0 Secreted NA PE1 12 +NX_Q13794 54 6030 10.3 0 Mitochondrion;Cytoplasmic vesicle NA PE1 18 +NX_Q13795 201 22614 7.5 0 Golgi apparatus;trans-Golgi network;Golgi apparatus NA PE1 20 +NX_Q13796 1616 176410 6.64 0 Cytosol;Cell membrane;Cell junction;Apical cell membrane;Tight junction;Cytoskeleton NA PE1 X +NX_Q13797 1035 114489 5.76 1 Cytoplasmic vesicle;Membrane;Nucleus NA PE1 3 +NX_Q13813 2472 284539 5.22 0 Cytoskeleton;Cytoplasmic vesicle;Cytoskeleton;Cell cortex Epileptic encephalopathy, early infantile, 5 PE1 9 +NX_Q13822 863 98994 7.14 0 Golgi apparatus;Nucleus;Cytoskeleton;Secreted NA PE1 8 +NX_Q13823 731 83655 9.27 0 Nucleolus;Nucleolus NA PE1 1 +NX_Q13825 339 35609 9.53 0 Mitochondrion 3-methylglutaconic aciduria 1 PE1 9 +NX_Q13829 316 36204 8.26 0 Nucleus;Cytoplasm;Nucleolus;Endosome NA PE1 17 +NX_Q13835 747 82861 9.29 0 Nucleoplasm;Desmosome;Nucleus Ectodermal dysplasia-skin fragility syndrome PE1 1 +NX_Q13838 428 48991 5.44 0 Cytoplasm;Nucleus speckle;Nucleus NA PE1 6 +NX_Q13867 455 52562 5.87 0 Nucleus;Nucleoplasm;Cytoplasm;Cytosol NA PE1 17 +NX_Q13868 293 32789 7.06 0 Cytoplasm;Nucleolus;Nucleus;Nucleus;Nucleolus NA PE1 9 +NX_Q13873 1038 115201 5.82 1 Cell membrane;Cell membrane;Nucleoplasm Pulmonary venoocclusive disease 1, autosomal dominant;Pulmonary hypertension, primary, 1 PE1 2 +NX_Q13875 183 20959 11.35 0 Perinuclear region NA PE1 3 +NX_Q13882 451 51834 6.56 0 Cytosol;Cell membrane;Membrane;Ruffle;Nucleus;Cytoplasm;Nucleus;Nucleoplasm NA PE1 20 +NX_Q13884 538 58061 8.81 0 Sarcolemma;Cell junction;Cytoskeleton NA PE1 8 +NX_Q13885 445 49907 4.78 0 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 5 PE1 6 +NX_Q13886 244 27235 8.8 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA PE1 9 +NX_Q13887 457 50792 8.86 0 Golgi apparatus;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA PE1 13 +NX_Q13888 395 44419 6.28 0 Nucleus NA PE1 5 +NX_Q13889 308 34378 6.59 0 Nucleoplasm;Nucleus NA PE1 12 +NX_Q13895 437 49601 8.19 0 Nucleolus;Cytoplasm;Nucleus;Nucleolus NA PE1 6 +NX_Q13901 141 16019 9 0 Nucleus;Nucleolus;Nucleolus;Cytoplasm;Nucleus NA PE1 2 +NX_Q13905 1077 120548 5.64 0 Early endosome;Cytoplasmic vesicle NA PE1 9 +NX_Q13907 227 26319 5.93 0 Peroxisome NA PE1 10 +NX_Q13936 2221 248977 6.33 24 Membrane;Cell membrane Timothy syndrome;Brugada syndrome 3 PE1 12 +NX_Q13938 189 20967 4.74 0 Cytoplasm;Cytosol;Cell membrane;Nucleus NA PE1 19 +NX_Q13939 588 66582 8.49 0 Calyx NA PE1 9 +NX_Q13946 482 55505 7.1 0 Cytosol;Cytoplasm NA PE1 8 +NX_Q13948 678 77455 5.35 1 Golgi apparatus membrane NA PE1 7 +NX_Q13950 521 56648 9.03 0 Nucleoplasm;Nucleus Cleidocranial dysplasia;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly PE1 6 +NX_Q13951 182 21508 6.23 0 Cytosol;Nucleus;Nucleus NA PE1 16 +NX_Q13952 458 50302 5.78 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q13956 83 9074 9.3 0 NA Cone dystrophy, retinal 3A PE1 12 +NX_Q13972 1273 145234 7.18 0 Golgi apparatus NA PE1 15 +NX_Q13976 671 76364 5.74 0 Cytosol;Cytoplasmic vesicle;Cytoplasm Aortic aneurysm, familial thoracic 8 PE1 10 +NX_Q14002 265 29379 5.36 0 Cell membrane NA PE1 19 +NX_Q14003 757 80578 6.08 6 Cell membrane;Presynaptic cell membrane;Perikaryon;Axon;Dendrite;Dendritic spine membrane;Cell cortex;Cytoskeleton Spinocerebellar ataxia 13 PE1 19 +NX_Q14004 1512 164923 9.71 0 Nucleus speckle;Nucleus speckle Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder PE1 7 +NX_Q14005 1332 141752 8.34 0 Nucleus;Cytoplasm;Secreted;Nucleus speckle;Cell membrane;Cytosol NA PE1 15 +NX_Q14008 2032 225495 7.95 0 Nucleolus;Cytosol;Centrosome;Spindle pole;Cell membrane;Kinetochore;Spindle NA PE1 11 +NX_Q14011 172 18648 9.51 0 Nucleus;Nucleus;Nucleolus;Nucleoplasm;Cytoplasm NA PE1 19 +NX_Q14012 370 41337 5.12 0 Cytosol;Nucleus;Cytoplasm NA PE1 3 +NX_Q14019 142 15945 5.54 0 Cytoplasm;Nucleus;Cytoskeleton NA PE1 16 +NX_Q14028 1251 139678 4.76 6 Cytoplasmic vesicle;Cytosol;Membrane Retinitis pigmentosa 45 PE1 16 +NX_Q14031 1691 163807 9.31 0 Endoplasmic reticulum;Basement membrane Deafness, X-linked, 6 PE1 X +NX_Q14032 418 46299 6.5 0 Cytoplasm;Cytoplasmic vesicle Familial hypercholanemia PE1 9 +NX_Q14050 684 63616 7.58 0 Extracellular matrix;Nucleoplasm;Cytoskeleton Multiple epiphyseal dysplasia 3;Intervertebral disc disease PE1 20 +NX_Q14055 689 65131 9.23 0 Nucleus;Cytoplasmic vesicle;Extracellular matrix Intervertebral disc disease;Stickler syndrome 5;Multiple epiphyseal dysplasia 2 PE1 1 +NX_Q14061 63 6915 6.8 0 Cytoplasm;Mitochondrion intermembrane space;Mitochondrion NA PE1 3 +NX_Q14088 237 26593 8.07 0 Cytoplasm;Cell membrane;Cytoplasmic vesicle;Cell membrane NA PE1 X +NX_Q14093 348 39079 9.74 0 Calyx NA PE1 9 +NX_Q14094 377 42557 8.23 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 4 +NX_Q14103 355 38434 7.61 0 Nucleus;Nucleus;Cytoplasm;Nucleoplasm NA PE1 4 +NX_Q14106 344 36632 6.45 0 Cytoplasm;Cytosol NA PE1 22 +NX_Q14108 478 54290 5 2 Cytosol;Lysosome membrane Epilepsy, progressive myoclonic 4, with or without renal failure PE1 4 +NX_Q14112 1375 151254 5.09 0 Basement membrane;Cell membrane NA PE1 14 +NX_Q14114 963 105634 4.88 1 Cell membrane;Secreted Myocardial infarction 1 PE1 1 +NX_Q14116 193 22326 4.54 0 Nucleus;Cytosol;Golgi apparatus;Secreted NA PE1 11 +NX_Q14117 519 56630 6.81 0 NA Dihydropyrimidinase deficiency PE1 8 +NX_Q14118 895 97441 8.71 1 Extracellular space;Cell membrane;Postsynaptic cell membrane;Sarcolemma;Cytoplasmic vesicle;Cytoskeleton;Nucleoplasm Muscular dystrophy-dystroglycanopathy limb-girdle C9;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9 PE1 3 +NX_Q14119 521 56931 9.62 0 Nucleoplasm;Nucleus NA PE1 17 +NX_Q14123 709 80760 8.88 0 Nucleus NA PE1 7 +NX_Q14126 1118 122294 5.13 1 Cell membrane;Cell junction;Desmosome Arrhythmogenic right ventricular dysplasia, familial, 10;Cardiomyopathy, dilated 1BB PE1 18 +NX_Q14129 220 24989 7.02 0 Nucleus NA PE1 22 +NX_Q14134 588 65835 6.73 0 Nucleoplasm;Cytoskeleton;Cytoplasm NA PE1 11 +NX_Q14135 290 30948 8.49 0 Nucleolus;Nucleus;Nucleus NA PE1 3 +NX_Q14137 746 83630 5.8 0 Nucleolus;Nucleus;Nucleoplasm;Nucleolus NA PE1 8 +NX_Q14139 1066 122561 5.11 0 Nucleus speckle;Cytoplasm NA PE1 11 +NX_Q14140 314 33897 4.42 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 2 +NX_Q14141 434 49717 6.24 0 Midbody;Cytoplasm;Spindle;Kinetochore;Cleavage furrow;Flagellum NA PE1 X +NX_Q14142 442 49773 8.13 0 Nucleoplasm;Cytosol NA PE1 9 +NX_Q14145 624 69666 6 0 Cytoplasm;Cytosol;Nucleoplasm;Microtubule organizing center;Nucleus NA PE1 19 +NX_Q14146 1524 170544 6.97 0 Nucleolus;Nucleolus NA PE1 1 +NX_Q14147 1143 128120 7.37 0 Nucleus;Cytoskeleton NA PE1 19 +NX_Q14149 939 107113 5.42 0 Nucleoplasm;Nucleus matrix;PML body;Mitochondrion;Nucleoplasm NA PE1 21 +NX_Q14151 953 107473 5.84 0 Nucleus;Cytoplasmic vesicle;Nucleus;Nucleoplasm;Cytoplasm;Nucleus NA PE1 19 +NX_Q14152 1382 166569 6.38 0 Cytoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 10 +NX_Q14153 422 45768 6.33 0 Cytosol;Nucleus NA PE1 10 +NX_Q14154 515 55920 9.37 0 Golgi apparatus;Nucleoplasm;Mitochondrion NA PE1 5 +NX_Q14155 803 90012 6.66 0 Lamellipodium;Focal adhesion;Ruffle;Cell cortex NA PE1 13 +NX_Q14156 821 92924 6.24 0 Cell membrane;Cytosol;Cell membrane;Cytosol NA PE1 8 +NX_Q14157 1087 114535 6.61 0 Cytosol;Nucleus speckle NA PE1 1 +NX_Q14159 915 100316 6.22 0 Nucleus;Nucleoplasm NA PE1 8 +NX_Q14160 1630 174885 5.01 0 Cell junction;Cytoplasm;Cell membrane;Adherens junction;Lamellipodium;Cell membrane;Nucleoplasm;Cytoplasm Neural tube defects PE1 8 +NX_Q14161 759 84543 6.78 0 Cytoskeleton NA PE1 12 +NX_Q14162 830 87387 5.98 1 Membrane NA PE1 17 +NX_Q14164 716 80462 7.91 0 Cytoplasm;Cytosol;Nucleus;PML body NA PE1 1 +NX_Q14165 292 32234 5.27 1 Endoplasmic reticulum membrane NA PE1 12 +NX_Q14166 644 74404 5.33 0 Cell membrane;Cytosol NA PE1 22 +NX_Q14168 576 64581 6.32 0 Mitochondrion;Cytosol;Cytoskeleton;Membrane;Dendrite;Dendritic spine membrane NA PE1 17 +NX_Q14181 598 65948 5.13 0 Nucleus;Nucleoplasm NA PE1 11 +NX_Q14183 400 43959 6.83 0 Cell junction;Lysosome;Synaptic vesicle membrane;Synaptosome;Nucleolus;Nucleus NA PE1 16 +NX_Q14184 412 45949 8.25 0 Cytoplasm;Cytoplasmic granule;Cell membrane NA PE1 17 +NX_Q14185 1865 215346 7.29 0 Cytoplasm;Nucleus;Membrane NA PE1 10 +NX_Q14186 410 45070 5.74 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 13 +NX_Q14188 446 49236 6.17 0 Nucleus;Cytoplasmic vesicle;Nucleus NA PE1 3 +NX_Q14190 667 73219 9.03 0 Nucleus;Nucleoplasm;Nucleus NA PE1 21 +NX_Q14191 1432 162461 5.96 0 Nucleolus;Nucleus;Nucleus speckle;Nucleoplasm Werner syndrome;Colorectal cancer PE1 8 +NX_Q14192 279 32193 7.8 0 Cytoskeleton;Focal adhesion;Nucleus;Cytoplasm NA PE1 2 +NX_Q14194 572 62184 6.55 0 Cytosol;Cytoplasm;Centrosome;Spindle NA PE1 4 +NX_Q14195 570 61963 6.04 0 Cytoplasm;Growth cone;Cytosol NA PE1 5 +NX_Q14197 206 23630 10.09 0 Mitochondrion;Nucleoplasm;Mitochondrion NA PE1 17 +NX_Q14201 252 29116 9.12 0 NA NA PE1 21 +NX_Q14202 1370 152379 6.01 0 Nucleoplasm;Nucleus NA PE1 X +NX_Q14203 1278 141695 5.61 0 Cytoskeleton;Cytoskeleton;Cytoplasm;Nucleus envelope;Spindle;Centriole;Centrosome;Centrosome;Cytosol;Cell cortex Neuronopathy, distal hereditary motor, 7B;Amyotrophic lateral sclerosis;Perry syndrome PE1 2 +NX_Q14204 4646 532408 6.01 0 Cytoplasm;Cytosol;Cytoskeleton;Centrosome Charcot-Marie-Tooth disease 2O;Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant;Mental retardation, autosomal dominant 13 PE1 14 +NX_Q14206 197 21997 5.84 0 Mitochondrion;Nucleoplasm NA PE1 6 +NX_Q14207 1427 154290 5.63 0 Nucleus;Nucleus;Nucleus;Nucleoplasm;Cajal body NA PE1 11 +NX_Q14209 437 47506 4.75 0 Nucleus NA PE1 1 +NX_Q14210 128 13286 8.59 0 Cell membrane NA PE1 8 +NX_Q14213 229 25396 9.41 0 Secreted NA PE1 19 +NX_Q14232 305 33712 6.91 0 Cytosol Leukodystrophy with vanishing white matter PE1 12 +NX_Q14236 149 17843 10.16 0 NA NA PE2 X +NX_Q14240 407 46402 5.33 0 NA NA PE1 3 +NX_Q14241 798 89909 9.59 0 Nucleus;Cytosol;Nucleus speckle NA PE1 1 +NX_Q14242 412 43201 4.35 1 Membrane NA PE1 12 +NX_Q14244 749 84052 9.62 0 Cytosol;Perinuclear region;Basolateral cell membrane;Cytoskeleton;Cytoskeleton NA PE1 6 +NX_Q14246 886 97683 6.42 7 Cell membrane NA PE1 19 +NX_Q14247 550 61586 5.24 0 Golgi apparatus;Cell junction;Focal adhesion;Clathrin-coated pit;Dendritic spine;Cell cortex;Cytoskeleton;Lamellipodium;Ruffle;Dendrite;Cell projection;Cell membrane;Cell membrane;Cytosol;Cytoplasmic vesicle;Podosome NA PE1 11 +NX_Q14249 297 32620 9.53 0 Mitochondrion NA PE1 9 +NX_Q14254 428 47064 5.19 0 Membrane;Cell membrane;Caveola;Endosome NA PE1 17 +NX_Q14257 317 36876 4.26 0 Endoplasmic reticulum;Endoplasmic reticulum lumen NA PE1 15 +NX_Q14258 630 70973 8.44 0 Cytoplasm;Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA PE1 17 +NX_Q14264 604 67942 6.84 0 Cytoplasmic vesicle;Virion NA PE1 7 +NX_Q14289 1009 115875 5.91 0 Cytoplasm;Cell membrane;Nucleus;Cell cortex;Lamellipodium;Perinuclear region;Cell membrane;Focal adhesion;Cytosol NA PE1 8 +NX_Q14296 549 61104 9.96 0 Nucleus speckle;Mitochondrion matrix;Mitochondrion NA PE1 7 +NX_Q14314 439 50229 7.09 0 Secreted NA PE1 7 +NX_Q14315 2725 291022 5.65 0 Cytosol;Cytoplasm;Membrane;Cytoskeleton;Z line;Cell membrane Myopathy, myofibrillar, 5;Myopathy, distal, 4;Cardiomyopathy, familial restrictive 5;Cardiomyopathy, familial hypertrophic 26 PE1 7 +NX_Q14318 412 44562 4.78 1 Endoplasmic reticulum;Cytosol;Mitochondrion;Mitochondrion;Mitochondrion membrane NA PE1 19 +NX_Q14320 339 40242 6.39 0 Nucleus;Nucleoplasm;Nucleus NA PE1 X +NX_Q14324 1141 128072 7.44 0 NA NA PE1 19 +NX_Q14330 331 38134 9.38 7 Cell membrane;Cytoplasmic vesicle membrane NA PE1 13 +NX_Q14331 258 29172 9.1 0 Cajal body;Nucleolus;Cytoplasm;Z line Facioscapulohumeral muscular dystrophy 1 PE1 4 +NX_Q14332 565 63554 8.47 7 Membrane;Cell junction;Nucleus;Cell membrane NA PE1 17 +NX_Q14344 377 44050 8.12 0 Cytosol;Melanosome;Cytoplasm;Nucleus;Cell membrane NA PE1 17 +NX_Q14353 236 26318 5.74 0 NA Cerebral creatine deficiency syndrome 2 PE1 19 +NX_Q14376 348 38282 6.26 0 Cytosol;Nucleus Epimerase-deficiency galactosemia PE1 1 +NX_Q14390 218 23661 5.11 0 NA NA PE2 22 +NX_Q14392 662 71979 5.73 1 Membrane NA PE1 11 +NX_Q14393 721 79677 5.84 0 Cytosol;Microtubule organizing center;Secreted NA PE1 13 +NX_Q14397 625 68685 6.24 0 Cytoplasm;Cytoskeleton;Nucleus NA PE1 2 +NX_Q14406 222 25391 5.56 0 Secreted NA PE2 17 +NX_Q14409 553 60598 6 0 Mitochondrion outer membrane;Cytoplasm NA PE1 4 +NX_Q14410 553 60594 5.57 0 Mitochondrion outer membrane;Cytoplasm NA PE1 4 +NX_Q14416 872 95568 8.5 7 Cell membrane;Dendrite;Synapse NA PE1 3 +NX_Q14432 1141 124979 5.66 6 Cytosol;Membrane Hypertension and brachydactyly syndrome PE1 12 +NX_Q14435 633 72610 8.2 1 Golgi apparatus;Golgi stack membrane Tumoral calcinosis, hyperphosphatemic, familial PE1 2 +NX_Q14439 515 56998 8.81 7 Cell membrane NA PE1 15 +NX_Q14442 188 21081 6.29 0 Cytoplasm NA PE1 14 +NX_Q14444 709 78366 5.14 0 Cytoplasm;Cytosol;Dendrite;Cytosol NA PE1 11 +NX_Q14449 540 60988 8.56 0 Cytosol;Endosome membrane;Nucleoplasm;Cytoplasm NA PE1 2 +NX_Q14451 532 59681 8.82 0 Cytoplasm;Cell membrane;Focal adhesion;Cell projection;Cytoplasmic granule;Cell membrane NA PE1 17 +NX_Q14457 450 51896 4.83 0 trans-Golgi network membrane;Cytoplasm;Centrosome;Endosome membrane;Endoplasmic reticulum membrane;Mitochondrion membrane;Mitochondrion;Nucleus;Cytoplasm;Autophagosome;Endosome;Mitochondrion NA PE1 17 +NX_Q14469 280 29541 9.66 0 Nucleoplasm;Nucleus NA PE1 3 +NX_Q14493 270 31286 7.06 0 Nucleolus;Cytoplasm;Nucleus;Cytoplasm;Nucleus;Nucleolus;Cytosol;Nucleus NA PE1 4 +NX_Q14494 772 84704 4.52 1 Cytosol;Nucleus;Endoplasmic reticulum membrane;Nucleus NA PE1 17 +NX_Q14498 530 59380 10.1 0 Nucleus;Nucleus speckle;Nucleus speckle;Microtubule organizing center;Cytoskeleton;Nucleoplasm NA PE1 20 +NX_Q14500 433 49001 5.63 2 Membrane;Cell membrane NA PE1 17 +NX_Q14507 147 17646 8.64 0 Secreted NA PE1 14 +NX_Q14508 124 12993 4.69 0 Cytosol;Secreted NA PE1 20 +NX_Q14511 834 92861 6.23 0 Cell cortex;Nucleoplasm;Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Lamellipodium;Focal adhesion;Spindle;Cell membrane NA PE1 6 +NX_Q14512 234 26264 9.28 0 Extracellular space;Cell membrane NA PE1 4 +NX_Q14515 664 75208 4.71 0 Extracellular matrix;Endoplasmic reticulum NA PE1 4 +NX_Q14517 4588 506273 4.85 1 Perinuclear region;Nucleus;Cell membrane NA PE1 4 +NX_Q14520 560 62672 6.09 0 Secreted Thyroid cancer, non-medullary, 5 PE1 10 +NX_Q14524 2016 226940 5.34 24 Cell membrane Atrial fibrillation, familial, 10;Progressive familial heart block 1A;Sudden infant death syndrome;Atrial standstill 1;Long QT syndrome 3;Cardiomyopathy, dilated 1E;Sick sinus syndrome 1;Brugada syndrome 1;Familial paroxysmal ventricular fibrillation 1 PE1 3 +NX_Q14525 404 46214 4.81 0 NA NA PE1 17 +NX_Q14526 733 76508 6.38 0 Nucleoplasm;Nucleus;Cytosol NA PE1 17 +NX_Q14527 1009 113929 8.82 0 Cytoplasm;Nucleoplasm;Nucleus;Nucleus;Nucleolus NA PE1 3 +NX_Q14532 448 50343 4.78 0 NA NA PE1 17 +NX_Q14533 505 54928 5.4 0 NA Monilethrix PE1 12 +NX_Q14534 574 63923 8.8 4 Microsome membrane;Endoplasmic reticulum membrane;Cytosol;Cytoplasmic vesicle NA PE1 8 +NX_Q14541 408 45877 8.68 0 Nucleus;Nucleoplasm;Cytosol NA PE1 8 +NX_Q14542 456 50113 5.76 11 Basolateral cell membrane;Nucleoplasm;Nucleus membrane NA PE1 11 +NX_Q14549 363 37629 7.04 0 Nucleus NA PE1 7 +NX_Q14554 519 59594 8.08 0 Cell membrane;Nucleoplasm;Golgi apparatus;Endoplasmic reticulum lumen;Nucleolus NA PE1 3 +NX_Q14558 356 39394 6.73 0 Cytosol NA PE1 17 +NX_Q14562 1220 139315 8.54 0 Nucleus;Nucleoplasm;Nucleus NA PE1 17 +NX_Q14563 771 88889 7.05 0 Secreted;Nucleoplasm;Cytoplasmic vesicle Hypogonadotropic hypogonadism 16 with or without anosmia PE1 7 +NX_Q14565 340 37681 5.62 0 Nucleoplasm;Nucleus;Chromosome NA PE1 22 +NX_Q14566 821 92889 5.29 0 Nucleus;Nucleoplasm NA PE1 2 +NX_Q14568 343 39365 4.57 0 Cytoplasm NA PE1 11 +NX_Q14571 2701 308064 6.01 6 Endoplasmic reticulum;Nucleus;Endoplasmic reticulum membrane Anhidrosis, isolated, with normal sweat glands PE1 12 +NX_Q14573 2671 304106 6.05 6 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA PE1 6 +NX_Q14574 896 99969 5.77 1 Cell membrane;Desmosome;Cell membrane;Cell junction Hypotrichosis and recurrent skin vesicles PE1 18 +NX_Q14576 367 39547 9.33 0 Cytoplasmic vesicle NA PE1 19 +NX_Q14582 209 23528 6.46 0 Cytosol;Nucleus NA PE1 4 +NX_Q14584 549 62116 8.93 0 Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleus NA PE1 19 +NX_Q14585 488 55383 8.7 0 Nucleus;Nucleus NA PE1 19 +NX_Q14586 743 87376 9.14 0 Nucleus;Nucleoplasm NA PE1 16 +NX_Q14587 947 108374 9.14 0 Cytoskeleton;Nucleus;Cytosol;Cytoplasm NA PE1 12 +NX_Q14588 700 80560 8.96 0 Nucleus;Nucleus NA PE1 19 +NX_Q14590 738 83977 8.91 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q14592 562 63665 6.55 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q14593 569 64971 9.62 0 Nucleus NA PE1 7 +NX_Q14596 966 107413 5.03 0 Nucleus;Cytoplasmic vesicle;Nucleoplasm;M line;Lysosome;Autophagosome;Cytoplasm NA PE1 17 +NX_Q14602 36 4055 10.27 0 NA NA PE5 3 +NX_Q14623 411 45251 8.98 0 Cell membrane;Extracellular space;Cell membrane Brachydactyly A1;Acrocapitofemoral dysplasia PE1 2 +NX_Q14624 930 103357 6.51 0 Secreted;Cytoplasmic vesicle NA PE1 3 +NX_Q14626 422 45222 8.03 1 Membrane Craniosynostosis and dental anomalies PE1 9 +NX_Q14627 380 44176 4.84 1 Nucleus;Nucleolus;Membrane NA PE1 X +NX_Q14641 139 15445 9.28 0 Secreted NA PE1 9 +NX_Q14642 412 47820 6.58 0 Membrane;Cytosol NA PE1 10 +NX_Q14643 2758 313929 5.71 6 Endoplasmic reticulum membrane;Secretory vesicle membrane;Cytoplasmic vesicle;Perinuclear region Spinocerebellar ataxia 29;Gillespie syndrome;Spinocerebellar ataxia 15 PE1 3 +NX_Q14644 834 95699 6.76 0 Cell membrane NA PE1 13 +NX_Q14651 629 70253 5.28 0 Cytoplasm NA PE1 3 +NX_Q14653 427 47219 5.17 0 Cytoplasm;Cytosol;Nucleus Herpes simplex encephalitis 7 PE1 19 +NX_Q14654 390 43541 8.15 2 Membrane Transient neonatal diabetes mellitus 3;Diabetes mellitus, permanent neonatal;Familial hyperinsulinemic hypoglycemia 2;Maturity-onset diabetes of the young 13 PE1 11 +NX_Q14656 261 29148 9.05 6 Golgi apparatus;Nucleolus;Cytosol;Membrane NA PE1 X +NX_Q14657 143 14804 8.88 0 Nucleus;Nucleus;Nucleus;Nucleoplasm NA PE1 X +NX_Q14667 2235 253700 6.71 0 Nucleus speckle;Secreted;Cytosol NA PE1 17 +NX_Q14669 1992 220434 8.76 0 Nucleus speckle;Nucleoplasm NA PE1 2 +NX_Q14671 1186 126473 6.35 0 Cytosol;Nucleus;Cytoplasm;Cytoplasmic granule;P-body NA PE1 1 +NX_Q14674 2120 233175 7.65 0 Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA PE1 12 +NX_Q14676 2089 226666 5.35 0 Nucleus;Nucleus;Nucleoplasm;Chromosome NA PE1 6 +NX_Q14677 625 68259 6.01 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytoplasm;Perinuclear region;Membrane;Clathrin-coated vesicle NA PE1 5 +NX_Q14678 1352 147289 5.18 0 Cytoplasm;Nucleus;Cell membrane;Ruffle membrane Cerebral palsy, spastic quadriplegic 2 PE1 9 +NX_Q14679 1199 133378 9.04 0 Cilium;Cilium basal body;Mitochondrion NA PE1 2 +NX_Q14680 651 74642 8.92 0 Cell membrane NA PE1 9 +NX_Q14681 263 28527 5.21 0 NA NA PE1 17 +NX_Q14683 1233 143233 7.51 0 Cytosol;Nucleoplasm;Chromosome;Kinetochore;Nucleus Cornelia de Lange syndrome 2 PE1 X +NX_Q14684 758 84428 9.77 0 Nucleolus;Nucleolus;Nucleoplasm;Chromosome NA PE1 21 +NX_Q14686 2063 219145 9.4 0 Nucleus;Nucleoplasm NA PE1 20 +NX_Q14687 1217 136164 7.36 0 Nucleoplasm;Mitochondrion NA PE1 16 +NX_Q14689 1571 170369 8.35 0 Nucleus;Nucleus NA PE1 21 +NX_Q14690 1871 208701 8.99 0 Cytoplasmic vesicle;Nucleolus;Nucleolus NA PE1 10 +NX_Q14691 196 22988 6.96 0 Nucleus;Nucleoplasm NA PE1 20 +NX_Q14692 1282 145807 6.04 0 Nucleus;Nucleolus;Nucleolus Aplasia cutis congenita, non-syndromic PE1 10 +NX_Q14693 890 98664 6.14 0 Nucleus membrane;Cytosol;Nucleus;Nucleolus;Endoplasmic reticulum membrane Myoglobinuria, acute recurrent, autosomal recessive PE1 2 +NX_Q14694 798 87134 5.19 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Cytoplasm;Early endosome NA PE1 16 +NX_Q14695 138 14937 9.04 0 NA NA PE2 7 +NX_Q14696 234 26077 7.6 0 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum;Nucleus NA PE1 15 +NX_Q14697 944 106874 5.74 0 Cytosol;Endoplasmic reticulum;Endoplasmic reticulum;Golgi apparatus;Melanosome;Nucleus membrane Polycystic kidney disease 3 PE1 11 +NX_Q14699 578 63146 5.46 0 Cell membrane NA PE1 3 +NX_Q14703 1052 117749 8.91 1 Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE1 16 +NX_Q14714 243 26618 8.12 4 Endoplasmic reticulum;Sarcolemma;Nucleus membrane;Nucleus;Postsynaptic cell membrane;Cell membrane NA PE1 12 +NX_Q14721 858 95878 8.32 6 Membrane;Cell membrane;Dendrite;Axon;Perikaryon;Postsynaptic cell membrane;Synapse;Synaptosome;Lateral cell membrane;Sarcolemma Epileptic encephalopathy, early infantile, 26 PE1 20 +NX_Q14722 419 46563 9.1 0 Cytoplasm;Membrane;Cell membrane NA PE1 3 +NX_Q14728 455 48339 9.68 11 Membrane;Nucleoplasm;Nucleus membrane NA PE1 4 +NX_Q14738 602 69992 8.24 0 Nucleus;Cytoplasm;Nucleoplasm;Cytosol Mental retardation, autosomal dominant 35 PE1 6 +NX_Q14739 615 70703 9.41 8 Nucleus inner membrane;Nucleus membrane Reynolds syndrome;Greenberg dysplasia;Pelger-Huet anomaly PE1 1 +NX_Q14746 738 83208 6.2 0 Golgi apparatus;Golgi apparatus membrane Congenital disorder of glycosylation 2Q PE1 1 +NX_Q14749 295 32742 6.55 0 Cytosol;Cytoplasm Glycine N-methyltransferase deficiency PE1 6 +NX_Q14761 206 21196 4.39 1 Membrane NA PE1 11 +NX_Q14764 893 99327 5.34 0 Cytoplasm;Perinuclear region;Cytosol;Nuclear pore complex NA PE1 16 +NX_Q14765 748 85941 6.2 0 Cytoplasm;Nucleus Systemic lupus erythematosus 11;Rheumatoid arthritis PE1 2 +NX_Q14766 1721 186796 5.63 0 Cytosol;Secreted NA PE1 2 +NX_Q14767 1821 195052 5.06 0 Nucleus;Extracellular matrix Glaucoma 3, primary congenital, D;Weill-Marchesani syndrome 3;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma PE1 14 +NX_Q14773 271 29265 10.13 1 Nucleus speckle;Secreted;Cell membrane NA PE1 19 +NX_Q14774 488 50789 8.7 0 Cytosol;Nucleoplasm;Nucleus NA PE1 1 +NX_Q14781 532 56081 10.02 0 Nucleus;Nucleoplasm;Chromosome 46,XY sex reversal 5 PE1 17 +NX_Q14789 3259 376019 4.96 1 Golgi apparatus membrane;Golgi apparatus NA PE1 3 +NX_Q14790 479 55391 5 0 Nucleoplasm;Cytoplasm;Cytosol Caspase-8 deficiency PE1 2 +NX_Q147U1 533 60552 9.21 0 Cytoskeleton;Nucleus NA PE1 19 +NX_Q147U7 214 24598 9.2 1 Membrane NA PE2 3 +NX_Q147X3 362 39320 5.38 0 Cytoplasm;Cytosol;Nucleus NA PE1 14 +NX_Q14802 87 9263 6.8 1 Cell membrane;Cell membrane NA PE1 19 +NX_Q14807 665 73262 9.5 0 Nucleus;Nucleus speckle;Cytoskeleton;Nucleus Spondyloepimetaphyseal dysplasia with joint laxity, 2 PE1 16 +NX_Q14814 521 55938 7.73 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q14831 915 102251 8.2 7 Cell membrane;Cytosol NA PE1 3 +NX_Q14832 879 98879 7.93 7 Cell membrane NA PE1 7 +NX_Q14833 912 101868 9.07 7 Cell membrane NA PE1 6 +NX_Q14839 1912 218005 5.62 0 Nucleus;Centrosome Sifrim-Hitz-Weiss syndrome PE1 12 +NX_Q14847 261 29717 6.61 0 Cytoplasm;Cytosol;Cytoskeleton;Cell cortex;Focal adhesion;Cell membrane NA PE1 17 +NX_Q14849 445 50502 8.53 4 Late endosome membrane NA PE1 17 +NX_Q14863 301 32645 9.24 0 Nucleus;Nucleus;Cytoskeleton NA PE1 12 +NX_Q14865 1188 132375 8.89 0 Cytosol;Cell membrane;Nucleus Leukemia, acute lymphoblastic PE1 10 +NX_Q14872 753 80957 5.14 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q14894 314 33776 5.06 0 Cytosol;Cytoplasm Deafness, autosomal dominant, 40 PE1 16 +NX_Q14896 1274 140762 6.24 0 NA Cardiomyopathy, dilated 1MM;Cardiomyopathy, familial hypertrophic 4;Left ventricular non-compaction 10 PE1 11 +NX_Q14914 329 35870 8.45 0 Cytoplasm NA PE1 9 +NX_Q14916 467 51132 8.89 10 Apical cell membrane;Golgi apparatus NA PE1 6 +NX_Q14919 205 22350 5.04 0 Cytosol;Nucleus NA PE1 11 +NX_Q14929 603 68488 9.36 0 Cytosol;Nucleus speckle;Nucleus NA PE1 9 +NX_Q14934 902 95449 5.29 0 Cytosol;Nucleus speckle;Cytoplasm;Nucleus NA PE1 14 +NX_Q14938 502 55098 8.9 0 Nucleus Marshall-Smith syndrome;Sotos syndrome 2 PE1 19 +NX_Q14940 896 99011 7.33 12 Membrane;Cytosol;Nucleoplasm NA PE1 16 +NX_Q14943 382 42475 9.59 1 Cell membrane NA PE1 19 +NX_Q14952 304 33717 6.1 1 Cell membrane NA PE2 19 +NX_Q14953 304 33644 6.26 1 Cell membrane NA PE2 19 +NX_Q14954 304 33646 6.09 1 Cell membrane NA PE2 19 +NX_Q14956 572 63923 6.17 1 Melanosome;Cell membrane NA PE1 7 +NX_Q14957 1233 134209 8.82 3 Postsynaptic cell membrane;Cell membrane NA PE1 17 +NX_Q14964 217 25007 7.57 0 Lysosome;Cell membrane;Phagosome;Phagosome membrane NA PE1 11 +NX_Q14966 1978 220625 6.02 0 Nucleus speckle;Cytoplasmic vesicle;Nucleoplasm NA PE1 2 +NX_Q14973 349 38119 9.07 8 Membrane NA PE1 14 +NX_Q14974 876 97170 4.68 0 Cytoplasm;Nucleoplasm;Nucleus envelope;Nucleus membrane;Cytosol NA PE1 17 +NX_Q14978 699 73603 9.46 0 Nucleolus;Nucleolus;Cytoplasm NA PE1 10 +NX_Q14980 2115 238260 5.63 0 Nucleoplasm;Cell cortex;Centrosome;Spindle pole;Cell membrane;Cytoskeleton;Chromosome;Nucleus matrix;Nucleoplasm;Lateral cell membrane;Nucleus;Cytosol NA PE1 11 +NX_Q14982 345 38008 6.45 0 Cell membrane Ovarian cancer PE1 11 +NX_Q14990 250 28366 8.46 0 NA NA PE1 8 +NX_Q14993 1142 115221 8.57 0 Extracellular matrix NA PE1 6 +NX_Q14994 352 39942 8.55 0 Nucleus;Cytoplasm;Cytoskeleton;Nucleoplasm NA PE1 1 +NX_Q14995 579 64625 8.04 0 Nucleus;Nucleoplasm NA PE1 3 +NX_Q14997 1843 211334 6.45 0 Nucleoplasm;Cytosol;Nucleus;Nucleus speckle NA PE1 2 +NX_Q14999 1698 191161 5.57 0 Cytoplasm;Golgi apparatus;Centrosome;Perinuclear region 3M syndrome 1 PE1 6 +NX_Q149M9 1564 174552 6.28 0 Cytosol NA PE1 19 +NX_Q149N8 1683 193079 7.3 0 Mitochondrion NA PE1 6 +NX_Q14BN4 828 95198 5.35 1 Endoplasmic reticulum;Sarcolemma;Centrosome NA PE1 3 +NX_Q14C86 1478 164980 5.09 0 Cytosol;Membrane;Endosome NA PE1 9 +NX_Q14C87 1099 122309 5.5 1 Membrane NA PE1 12 +NX_Q14CB8 494 55756 9.41 0 Cell membrane;Cytoplasmic vesicle;Nucleus NA PE1 10 +NX_Q14CM0 1322 144379 5.12 0 Dendritic spine Mental retardation, X-linked 104 PE1 X +NX_Q14CN2 919 101283 5.27 1 Cell membrane;Apical cell membrane;Secreted NA PE1 1 +NX_Q14CN4 511 55877 6.53 0 NA NA PE1 12 +NX_Q14CS0 331 37077 5.49 0 Nucleoplasm;Nucleus;Cytosol;Endoplasmic reticulum;Golgi apparatus NA PE1 8 +NX_Q14CW9 347 38651 6.62 0 Nucleus speckle;Cell membrane;Nucleus NA PE1 17 +NX_Q14CX5 517 57381 8.21 11 Golgi apparatus;Membrane;Cytosol NA PE2 10 +NX_Q14CX7 972 112292 6.21 0 Cytoplasm;Cytosol;Golgi apparatus NA PE1 12 +NX_Q14CZ0 275 30926 7.77 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 16 +NX_Q14CZ7 662 75689 8.62 0 Nucleus;Mitochondrion;Mitochondrion NA PE1 5 +NX_Q14CZ8 416 46026 9.2 1 Cytoplasmic vesicle;Membrane;Cytoplasm Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A;Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B PE1 11 +NX_Q14D04 833 94745 6.26 0 Cell membrane;Nucleus;Nucleolus;Cytosol NA PE1 3 +NX_Q14D33 572 60488 6.12 1 Membrane NA PE1 2 +NX_Q14DG7 1078 119477 4.63 1 Membrane NA PE1 12 +NX_Q15003 741 82563 4.92 0 Nucleus;Cytoplasm;Nucleus;Chromosome;Cytosol NA PE1 2 +NX_Q15004 111 11986 9.85 0 Perinuclear region;Centrosome;Nucleus NA PE1 15 +NX_Q15005 226 25003 8.69 2 Cytoplasm;Nucleus;Endoplasmic reticulum membrane;Cell membrane;Microsome membrane NA PE1 11 +NX_Q15006 297 34834 6.15 0 Cytoplasm;Nucleus NA PE1 8 +NX_Q15007 396 44244 5.12 0 Nucleus speckle;Nucleoplasm;Nucleus speckle;Nucleoplasm NA PE1 6 +NX_Q15008 389 45531 5.45 0 Nucleus;Cytoplasm;Golgi apparatus;Cytoplasmic vesicle NA PE1 3 +NX_Q15011 391 43720 5.11 2 Endoplasmic reticulum membrane;Cell membrane;Cytosol NA PE1 16 +NX_Q15012 233 26801 6.1 4 Golgi apparatus;Cell membrane;Endomembrane system;Cytoplasmic vesicle NA PE1 2 +NX_Q15013 274 31052 5.94 0 Nucleus membrane;Nucleus;Nucleus;Spindle;Nucleolus NA PE1 6 +NX_Q15014 288 32308 9.72 0 Nucleus;Nucleus NA PE1 X +NX_Q15018 415 46901 5.83 0 Cytoplasm;Cytosol;Nucleus;Cytoskeleton;Spindle pole NA PE1 10 +NX_Q15019 361 41487 6.15 0 Cytosol;Cytoskeleton;Spindle;Cleavage furrow;Cytoplasm;Kinetochore;Midbody;Cell cortex;Cilium membrane;Flagellum;Nucleus;Cytoskeleton NA PE1 2 +NX_Q15020 963 109935 5.45 0 Cajal body;Nucleoplasm;Nucleus speckle;Cytoplasm NA PE1 12 +NX_Q15021 1401 157182 6.19 0 Nucleus;Cytosol;Nucleus;Cytoplasm;Chromosome NA PE1 12 +NX_Q15022 739 83055 8.98 0 Nucleus;Nucleolus;Nucleus;Nucleus NA PE1 17 +NX_Q15024 291 31821 5.08 0 Nucleus speckle;Nucleolus;Nucleus;Cytoplasm NA PE1 3 +NX_Q15025 636 71864 6.23 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA PE1 5 +NX_Q15027 740 81536 7.6 0 Cytoplasm;Cytoplasmic vesicle;Recycling endosome membrane NA PE1 17 +NX_Q15029 972 109436 4.84 0 Cytosol;Nucleoplasm;Nucleus Mandibulofacial dysostosis with microcephaly PE1 17 +NX_Q15031 903 101976 8.46 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion Hydrops, lactic acidosis, and sideroblastic anemia;Perrault syndrome 4 PE1 3 +NX_Q15032 1099 120696 8.91 0 Cytosol;Nucleoplasm NA PE1 2 +NX_Q15034 1050 117188 5.86 0 Cytoplasmic vesicle;Cytoplasm;Cytosol NA PE1 4 +NX_Q15035 370 43328 9.32 7 Cytosol;Membrane NA PE1 6 +NX_Q15036 470 52901 7.07 0 Cytoplasmic vesicle;Cytoplasm;Early endosome;Cytoplasmic vesicle membrane NA PE1 2 +NX_Q15038 168 17319 6.69 0 Cytoplasm;Nucleus;Nucleus;Nucleus speckle;Cytoplasm NA PE1 12 +NX_Q15040 202 23198 8.78 0 Cell membrane;Cytoplasm NA PE1 22 +NX_Q15041 203 23363 9.38 3 Cytoplasm;Endoplasmic reticulum;Cell membrane;Endomembrane system;Endoplasmic reticulum membrane;Endoplasmic reticulum;Endoplasmic reticulum Spastic paraplegia 61, autosomal recessive PE1 16 +NX_Q15042 981 110524 5.38 0 Cytosol;Nucleoplasm;Cytoplasm Warburg micro syndrome 1 PE1 2 +NX_Q15043 492 54212 5.16 6 Cell membrane;Cell membrane;Endoplasmic reticulum;Golgi apparatus;Cytoplasm;Lamellipodium Hypermanganesemia with dystonia 2 PE1 8 +NX_Q15046 597 68048 5.94 0 Nucleus;Cytosol;Cytosol;Cytoplasm;Mitochondrion;Secreted;Cell membrane Deafness, autosomal recessive, 89;Charcot-Marie-Tooth disease, recessive, intermediate type, B PE1 16 +NX_Q15047 1291 143157 5.74 0 Nucleus;Chromosome;Cytosol;Nucleoplasm NA PE1 1 +NX_Q15048 493 54513 6.43 0 Nucleoplasm;Cytosol;Cytoplasm NA PE1 8 +NX_Q15049 377 41141 7.46 8 Membrane;Cell membrane;Perinuclear region;Endoplasmic reticulum Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 PE1 22 +NX_Q15050 365 41193 10.69 0 Nucleolus;Nucleolus NA PE1 8 +NX_Q15051 598 68929 9.19 0 Spindle;Centrosome;Centriole;Cytoskeleton;Cytoskeleton Leber congenital amaurosis 10;Senior-Loken syndrome 5 PE1 3 +NX_Q15052 776 87499 5.79 0 Lamellipodium;Cytosol Mental retardation, X-linked 46 PE1 X +NX_Q15053 153 17035 9.58 0 NA NA PE1 1 +NX_Q15054 466 51400 9.38 0 Nucleus;Nucleus;Cytoplasm NA PE1 11 +NX_Q15056 248 27385 6.67 0 Cytoplasm;Cytosol;Nucleoplasm;Perinuclear region;Nucleus NA PE1 7 +NX_Q15057 778 88029 6.38 0 Endosome membrane;Endosome NA PE1 3 +NX_Q15058 1648 186492 8.06 0 Cytosol;Nucleus;Cytoplasm;Spindle;Midbody Meckel syndrome 12 PE1 1 +NX_Q15059 726 79542 9.39 0 Nucleus;Nucleus NA PE1 9 +NX_Q15061 677 74891 5.37 0 Nucleolus;Nucleolus;Nucleus NA PE1 2 +NX_Q15063 836 93314 7.27 0 Extracellular matrix;Secreted;Golgi apparatus;Nucleoplasm;Golgi apparatus NA PE1 13 +NX_Q15067 660 74424 8.35 0 Nucleus;Peroxisome;Cytoplasmic vesicle Adrenoleukodystrophy, pseudoneonatal PE1 17 +NX_Q15070 435 48548 9.53 5 Mitochondrion;Mitochondrion inner membrane NA PE1 14 +NX_Q15072 292 33308 9.15 0 Nucleus;Nucleolus NA PE1 19 +NX_Q15075 1411 162466 5.55 0 Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Cytoplasm;Early endosome membrane NA PE1 12 +NX_Q15077 328 36429 9.61 7 Cell membrane NA PE1 11 +NX_Q15078 307 34060 9.44 0 Cytoplasmic vesicle;Perinuclear region;Nucleoplasm;Cell membrane;Nucleus NA PE1 17 +NX_Q15080 339 39032 6.4 0 Cytosol;Cytosol;Endosome membrane;Membrane Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive PE1 22 +NX_Q15084 440 48121 4.95 0 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum lumen;Cell membrane;Melanosome;Endoplasmic reticulum NA PE1 2 +NX_Q15102 231 25734 6.33 0 Cytoplasm;Cytoskeleton NA PE1 19 +NX_Q15109 404 42803 5.83 1 Nucleolus;Cell membrane;Cell junction;Cell membrane;Secreted NA PE1 6 +NX_Q15111 1095 122728 5.46 0 Cytoplasm NA PE1 2 +NX_Q15113 449 47972 7.41 0 Cytoplasmic vesicle;Golgi apparatus;Secreted NA PE1 7 +NX_Q15116 288 31647 8.25 1 Membrane Systemic lupus erythematosus 2 PE1 2 +NX_Q15118 436 49244 8.92 0 Nucleolus;Mitochondrion;Mitochondrion matrix NA PE1 2 +NX_Q15119 407 46154 6.14 0 Nucleoplasm;Mitochondrion;Mitochondrion matrix NA PE1 17 +NX_Q15120 406 46939 8.46 0 Mitochondrion;Nucleolus;Mitochondrion matrix Charcot-Marie-Tooth disease, X-linked dominant, 6 PE1 X +NX_Q15121 130 15040 4.93 0 Nucleus;Cytosol;Cytoplasm NA PE1 1 +NX_Q15124 567 62225 6.81 0 Adherens junction;Cytoskeleton NA PE1 9 +NX_Q15125 230 26353 7.76 4 Cytoplasmic vesicle;Nucleus envelope;Endoplasmic reticulum membrane;Endoplasmic reticulum MEND syndrome;Chondrodysplasia punctata 2, X-linked dominant PE1 X +NX_Q15126 192 21995 5.56 0 Peroxisome Porokeratosis 1, multiple types PE1 1 +NX_Q15131 360 41038 9.06 0 Nucleoplasm;Midbody;Midbody ring NA PE1 16 +NX_Q15139 912 101704 6.16 0 trans-Golgi network;Cytosol;Cell membrane;Cell membrane;Cytoplasm Congenital heart defects and ectodermal dysplasia PE1 14 +NX_Q15147 1175 134464 6.47 0 Cytoskeleton;Nucleoplasm Auriculocondylar syndrome 2 PE1 20 +NX_Q15149 4684 531791 5.74 0 Cytoplasm;Cytosol;Hemidesmosome;Focal adhesion;Cytoskeleton;Cytoskeleton Epidermolysis bullosa simplex with nail dystrophy;Limb-girdle muscular dystrophy 2Q;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type PE1 8 +NX_Q15154 2024 228533 4.95 0 Nucleus membrane;Cytosol;Centrosome;Cytoskeleton;Centrosome;Cytoplasmic granule;Centriolar satellite;Cilium basal body NA PE1 8 +NX_Q15155 1222 134324 5.54 1 Endoplasmic reticulum;Membrane NA PE1 16 +NX_Q15165 354 39397 5.33 0 Membrane NA PE1 7 +NX_Q15166 354 39607 5.24 0 Extracellular space NA PE1 7 +NX_Q15170 157 18354 11.2 0 Nucleoplasm;Nucleus NA PE1 X +NX_Q15172 486 56194 6.28 0 Cytosol;Cytoplasm;Nucleus;Centromere NA PE1 1 +NX_Q15173 497 57393 6.27 0 Cytoplasm NA PE1 11 +NX_Q15181 289 32660 5.54 0 Cytoplasmic vesicle;Cytoplasm NA PE1 10 +NX_Q15185 160 18697 4.35 0 Cytoplasm;Nucleoplasm;Cytosol NA PE1 12 +NX_Q15195 96 10915 6.11 0 Secreted NA PE2 2 +NX_Q15198 375 41861 8.75 0 Nucleolus;Golgi apparatus;Secreted;Nucleus Colorectal cancer PE1 8 +NX_Q15208 465 54190 6.7 0 Nucleus;Cytoplasm NA PE1 6 +NX_Q15223 517 57158 5.77 1 Secreted;Presynaptic cell membrane;Cell membrane Ectodermal dysplasia, Margarita Island type;Non-syndromic orofacial cleft 7 PE1 11 +NX_Q15233 471 54232 9.01 0 Nucleoplasm;Nucleus;Nucleolus;Nucleus speckle Mental retardation, X-linked, syndromic, 34 PE1 X +NX_Q15238 335 37713 9 0 Secreted NA PE1 19 +NX_Q15256 657 73834 8.62 1 Cell membrane;Cell junction;Cell membrane;Perinuclear region;Cytosol NA PE1 12 +NX_Q15257 358 40668 5.63 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 9 +NX_Q15262 1439 162102 5.59 1 Adherens junction;Cell membrane;Cell membrane;Cell junction;Cytoplasmic vesicle NA PE1 6 +NX_Q15269 919 102452 5.76 0 Nucleolus;Cytosol;Nucleolus NA PE1 21 +NX_Q15270 411 40659 5.93 0 Nucleus NA PE2 4 +NX_Q15274 297 30846 5.81 0 NA NA PE1 16 +NX_Q15276 862 99290 4.95 0 Cytoplasmic vesicle;Cytoplasm;Early endosome;Recycling endosome;Cytoplasmic vesicle NA PE1 17 +NX_Q15283 850 96614 6.84 0 Perinuclear region;Cytoplasm;Cytoplasmic vesicle NA PE1 3 +NX_Q15286 201 23025 8.53 0 Melanosome;Endosome;Cell membrane;Clathrin-coated pit;Clathrin-coated vesicle NA PE1 12 +NX_Q15287 305 34208 11.85 0 Cytoplasm;Nucleoplasm;Nucleus;Nucleus speckle NA PE1 16 +NX_Q15291 538 59153 4.96 0 Nucleus;Nucleolus;Nucleus NA PE1 1 +NX_Q15293 331 38890 4.86 0 Endoplasmic reticulum lumen;Endoplasmic reticulum NA PE1 11 +NX_Q15303 1308 146808 5.98 1 Cell membrane;Nucleus;Mitochondrion Amyotrophic lateral sclerosis 19 PE1 2 +NX_Q15306 451 51772 6.39 0 Nucleoplasm;Nucleus Multiple myeloma PE1 6 +NX_Q15311 655 76063 5.68 0 Cytosol;Nucleus membrane;Cytoplasmic vesicle;Membrane NA PE1 18 +NX_Q15319 338 37052 9.16 0 Nucleus;Nucleoplasm Deafness, autosomal dominant, 15 PE1 5 +NX_Q15323 416 47237 4.84 0 NA NA PE1 17 +NX_Q15326 602 70963 8.83 0 Chromosome;Nucleus;Nucleoplasm Mental retardation, autosomal dominant 30 PE1 10 +NX_Q15327 319 36252 7.12 0 Nucleolus;Nucleus;Nucleus Total anomalous pulmonary venous return PE1 10 +NX_Q15329 346 37610 4.94 0 Nucleus;Nucleolus;Nucleus NA PE1 8 +NX_Q15334 1064 115418 5.87 0 Early endosome membrane;trans-Golgi network membrane;Golgi apparatus membrane;Axon;Cytoskeleton NA PE1 17 +NX_Q15345 812 88650 8.75 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q15349 733 83239 8.82 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 6 +NX_Q15361 905 103051 9.41 0 Nucleolus;Nucleus;Nucleus;Nucleolus NA PE1 9 +NX_Q15363 201 22761 5.08 1 Cytoplasmic vesicle membrane;cis-Golgi network membrane;Golgi stack membrane;Cytoplasmic vesicle;COPI-coated vesicle membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA PE1 12 +NX_Q15365 356 37498 6.66 0 Nucleus speckle;Cytosol;Nucleus;Cytoplasm NA PE1 2 +NX_Q15366 365 38580 6.33 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA PE1 12 +NX_Q15369 112 12473 4.74 0 Nucleus;Cell junction NA PE1 8 +NX_Q15370 118 13133 4.73 0 Nucleus NA PE1 16 +NX_Q15375 998 112097 5.58 1 Cell membrane NA PE1 6 +NX_Q15382 184 20497 5.65 0 Endomembrane system;Golgi apparatus membrane;Cytosol;Endoplasmic reticulum membrane NA PE1 7 +NX_Q15386 1083 123923 6.27 0 Nucleus;Nucleoplasm;Cell membrane;Mitochondrion NA PE1 7 +NX_Q15388 145 16298 8.81 1 Mitochondrion;Mitochondrion outer membrane NA PE1 1 +NX_Q15389 498 57513 6.3 0 Secreted NA PE1 8 +NX_Q15390 333 37000 9.1 0 Cytosol;Mitochondrion;Mitochondrion NA PE1 8 +NX_Q15391 338 38971 9.54 7 Cell membrane NA PE2 3 +NX_Q15392 516 60101 8.42 1 Endoplasmic reticulum membrane;Golgi apparatus membrane Desmosterolosis PE1 1 +NX_Q15393 1217 135577 5.13 0 Nucleolus;Nucleus;Nucleus NA PE1 16 +NX_Q15397 648 73584 9.65 0 Chromosome;Nucleoplasm;Nucleolus;Nucleolus NA PE1 9 +NX_Q15398 846 95115 9.11 0 Spindle;Cytoplasm;Microtubule organizing center;Cytosol;Nucleus NA PE1 14 +NX_Q15399 786 90291 6.62 1 Golgi apparatus;Phagosome membrane;Cell membrane;Membrane raft NA PE1 4 +NX_Q15404 277 31540 8.57 0 Cytoplasmic vesicle NA PE1 10 +NX_Q15406 480 54383 5.87 0 Nucleus;Nucleus NA PE1 9 +NX_Q15413 4870 552042 5.47 7 Cytoplasmic vesicle;Sarcoplasmic reticulum membrane;Sarcoplasmic reticulum;Microsome membrane;Membrane NA PE1 15 +NX_Q15415 496 55728 9.89 0 Nucleus NA PE1 Y +NX_Q15417 329 36414 5.69 0 Cytoplasm;Nucleus;Cytosol;Cytoskeleton NA PE1 1 +NX_Q15418 735 82723 7.68 0 Cytoplasm;Cytosol;Nucleus;Nucleus NA PE1 1 +NX_Q15424 915 102642 5.32 0 Nucleus;Nucleus;Nucleoplasm NA PE1 19 +NX_Q15427 424 44386 8.55 0 Nucleus speckle;Nucleus Acrofacial dysostosis 1, Nager type PE1 1 +NX_Q15428 464 49256 9.65 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q15431 976 114192 5.78 0 Centromere;Nucleus;Chromosome NA PE1 1 +NX_Q15434 407 43959 9.15 0 Nucleus;Nucleus;Nucleolus;Cytosol NA PE1 12 +NX_Q15435 360 41564 4.84 0 Nucleolus;Nucleus NA PE1 2 +NX_Q15436 765 86161 6.64 0 Cytoplasmic vesicle;Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;COPII-coated vesicle membrane Craniolenticulosutural dysplasia PE1 14 +NX_Q15437 767 86479 6.43 0 Cytosol;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Cytoplasmic vesicle Cowden syndrome 7;Anemia, congenital dyserythropoietic, 2 PE1 20 +NX_Q15438 398 46413 5.41 0 Nucleolus;Tight junction;Adherens junction;Nucleus;Cell membrane;Cytosol NA PE1 17 +NX_Q15459 793 88886 5.15 0 Nucleus speckle;Nucleus NA PE1 22 +NX_Q15464 509 55042 9.1 0 Nucleoplasm;Cytosol;Cytoplasm;Cell membrane;Cytosol NA PE1 9 +NX_Q15465 462 49607 8.1 0 Cell membrane Holoprosencephaly 3;Triphalangeal thumb-polysyndactyly syndrome;Hypoplasia or aplasia of tibia with polydactyly;Solitary median maxillary central incisor;Laurin-Sandrow syndrome;Preaxial polydactyly 2;Microphthalmia, isolated, with coloboma, 5 PE1 7 +NX_Q15466 257 28058 8.28 0 Cytoplasm;Nucleus Obesity PE1 1 +NX_Q15468 1287 142955 6.01 0 Cell membrane;Cytosol;Centriole;Cytosol Microcephaly 7, primary, autosomal recessive PE1 1 +NX_Q15475 284 32210 9.24 0 Nucleus;Nucleus;Nucleolus;Cytoplasm Branchiootic syndrome 3;Deafness, autosomal dominant, 23 PE1 14 +NX_Q15477 1246 137755 5.72 0 Nucleoplasm;Nucleus;Cytoplasm Trichohepatoenteric syndrome 2 PE1 6 +NX_Q15485 313 34001 6.31 0 Secreted NA PE1 9 +NX_Q15486 140 15381 5.71 0 NA NA PE5 5 +NX_Q15493 299 33253 5.89 0 Nucleus;Cytoplasm NA PE1 X +NX_Q15506 151 17406 4.76 0 Membrane;Cytoplasmic vesicle NA PE1 11 +NX_Q15513 63 7515 8.46 0 NA NA PE4 1 +NX_Q15517 529 51522 8.69 0 Secreted Hypotrichosis 2;Peeling skin syndrome 1 PE1 6 +NX_Q15526 300 33331 9.64 2 Mitochondrion inner membrane Charcot-Marie-Tooth disease 4K;Leigh syndrome PE1 9 +NX_Q15527 256 29648 9.33 0 Nucleolus;Nucleus NA PE1 9 +NX_Q15528 200 22221 4.56 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q15532 418 45929 5.95 0 Cytosol;Nucleus;Nucleoplasm NA PE1 18 +NX_Q15542 800 86830 5.4 0 Nucleoplasm;Nucleus NA PE1 10 +NX_Q15543 124 14287 4.72 0 Nucleus;Nucleolus;Nucleus Mental retardation, autosomal recessive 60 PE1 1 +NX_Q15544 211 23307 4.78 0 Golgi apparatus;Nucleus;Nucleoplasm NA PE1 6 +NX_Q15545 349 40259 5.07 0 Nucleoplasm;Golgi apparatus;Nucleus NA PE1 5 +NX_Q15546 238 27667 9.09 7 Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane NA PE2 17 +NX_Q15554 542 59594 9.38 0 Nucleus;Telomere;Nucleus NA PE1 16 +NX_Q15555 327 37031 5.36 0 Cytoskeleton;Nucleoplasm;Cytoskeleton Skin creases, congenital symmetric circumferential, 2 PE1 18 +NX_Q15560 299 33601 9.32 0 Nucleus;Centrosome;Nucleoplasm NA PE1 20 +NX_Q15561 434 48329 6.88 0 Nucleus;Nucleoplasm NA PE1 12 +NX_Q15562 447 49243 6.06 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q15569 626 67684 8.44 0 NA NA PE1 9 +NX_Q15572 869 95213 8.91 0 Nucleolus;Nucleus NA PE1 16 +NX_Q15573 450 52676 9.15 0 Cytoskeleton;Cytoplasmic vesicle;Nucleus;Nucleus NA PE1 1 +NX_Q15582 683 74681 7.62 0 Cytosol;Secreted;Extracellular matrix Corneal dystrophy, Thiel-Behnke type;Corneal dystrophy, lattice type 1;Corneal dystrophy, epithelial basement membrane;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Avellino type;Corneal dystrophy, Groenouw type 1;Corneal dystrophy, lattice type 3A PE1 5 +NX_Q15583 401 43013 9.17 0 Nucleoplasm;Nucleus Holoprosencephaly 4 PE1 18 +NX_Q15596 1464 159157 6.19 0 Nucleoplasm;Nucleus;Nucleus NA PE1 8 +NX_Q15599 337 37414 7.8 0 Cell membrane;Endomembrane system;Nucleus;Apical cell membrane NA PE1 16 +NX_Q155Q3 683 77478 5.85 0 Cytoplasm;Focal adhesion;Cytosol;Cytosol NA PE1 11 +NX_Q15612 314 35598 9.12 7 Cell membrane NA PE2 9 +NX_Q15615 310 35240 8.74 7 Cell membrane NA PE2 17 +NX_Q15617 311 34904 8.37 7 Cell membrane NA PE2 11 +NX_Q15619 314 35042 8.18 7 Cell membrane NA PE2 1 +NX_Q15620 311 34482 8.28 7 Cell membrane NA PE2 11 +NX_Q15622 319 35579 8.33 7 Cell membrane NA PE2 19 +NX_Q15628 312 34247 5.94 0 Nucleus;Cytosol;Cytoplasm;Cytoskeleton NA PE1 16 +NX_Q15629 374 43072 9.65 8 Endoplasmic reticulum membrane NA PE1 8 +NX_Q15631 228 26183 6.01 0 Cytoplasm;Nucleus NA PE1 2 +NX_Q15633 366 39039 6.11 0 Nucleoplasm;Nucleus;Cytoplasm;Perinuclear region;Nucleus NA PE1 12 +NX_Q15637 639 68330 9.07 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q15642 601 68352 5.55 0 Nucleoplasm;Cytoplasmic vesicle;Lysosome;Cell cortex;Cytoskeleton;Perinuclear region;Phagocytic cup;Cell membrane;Golgi apparatus NA PE1 19 +NX_Q15643 1979 227586 5.18 0 Nucleus;Golgi apparatus;cis-Golgi network membrane;Cytoskeleton Achondrogenesis 1A PE1 14 +NX_Q15645 432 48551 5.73 0 Nucleus Mosaic variegated aneuploidy syndrome 3 PE1 5 +NX_Q15646 514 59226 7.96 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleolus NA PE1 12 +NX_Q15648 1581 168478 8.88 0 Nucleus;Nucleoplasm NA PE1 17 +NX_Q15649 155 17607 5.51 0 Nucleus;Mitochondrion;Cytoplasm;Nucleus PEHO syndrome PE1 17 +NX_Q15650 581 66146 8.05 0 Nucleoplasm;Nucleus;Nucleus;Cytosol;Centrosome Muscular dystrophy, congenital, Davignon-Chauveau type;Spinal muscular atrophy with congenital bone fractures 1 PE1 15 +NX_Q15651 99 10666 9.66 0 Nucleus;Cytosol;Nucleus;Nucleus NA PE1 6 +NX_Q15652 2540 284525 7.95 0 Nucleoplasm;Cytosol;Nucleus NA PE1 10 +NX_Q15653 356 37771 4.7 0 Nucleoplasm;Cytosol;Nucleus;Centrosome;Cytoplasm NA PE1 19 +NX_Q15654 476 50288 7.19 0 Cytosol;Focal adhesion;Cytoskeleton;Focal adhesion;Nucleus;Cytoplasm;Cell membrane NA PE1 7 +NX_Q15661 275 30515 6.62 0 Secreted NA PE1 16 +NX_Q15669 191 21331 9.17 0 Cell membrane;Cytoplasm NA PE1 4 +NX_Q15672 202 20954 9.48 0 Nucleus Saethre-Chotzen syndrome;Craniosynostosis 1;Robinow-Sorauf syndrome PE1 7 +NX_Q15678 1187 135261 8.53 0 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus Choanal atresia and lymphedema PE1 1 +NX_Q15691 268 29999 5.02 0 Cytosol;Microtubule organizing center;Cytoskeleton;Centrosome NA PE1 20 +NX_Q15695 479 57643 9.44 0 Nucleus NA PE2 5 +NX_Q15696 482 58045 9.75 0 Nucleus NA PE1 X +NX_Q15697 407 46455 9.66 0 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus NA PE1 16 +NX_Q15699 326 36961 8.8 0 Nucleus;Nucleoplasm;Nucleus;Golgi apparatus Frontonasal dysplasia 3 PE1 12 +NX_Q156A1 80 10272 5.28 0 Nucleus Spinocerebellar ataxia 8 PE1 13 +NX_Q15700 870 97552 6.03 0 Cytoplasmic vesicle;Cell membrane;Postsynaptic density;Synapse;Membrane;Axon;Cell membrane NA PE1 11 +NX_Q15714 1073 109677 5.38 0 Cytoplasm;Nucleus;Nucleoplasm;Nucleus NA PE1 13 +NX_Q15717 326 36092 9.23 0 Nucleus;Nucleolus;Cytoplasm;Nucleus;Cytosol NA PE1 19 +NX_Q15722 352 37557 11.11 7 Cell membrane NA PE1 14 +NX_Q15723 593 63967 6.15 0 Nucleus;Nucleus;Nucleoplasm NA PE1 4 +NX_Q15726 138 14705 10.17 0 Secreted;Cytoplasmic vesicle Hypogonadotropic hypogonadism 13 with or without anosmia PE1 1 +NX_Q15735 1006 107197 9.22 0 Cytosol;Nucleolus;Cytoplasm NA PE1 22 +NX_Q15738 373 41900 8.16 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Lipid droplet;Endoplasmic reticulum;Lipid droplet Congenital hemidysplasia with ichthyosiform erythroderma and limb defects;CK syndrome PE1 X +NX_Q15742 525 56594 6.5 0 Nucleus;Nucleus;Cytosol NA PE1 12 +NX_Q15743 365 41077 7.87 7 Cell membrane Amelogenesis imperfecta, hypomaturation type, 2A6 PE1 14 +NX_Q15744 281 30603 9.13 0 Nucleoplasm;Nucleus Specific granule deficiency 1 PE1 14 +NX_Q15746 1914 210715 5.85 0 Cytosol;Cytoplasm;Lamellipodium;Cytoskeleton;Cleavage furrow Aortic aneurysm, familial thoracic 7 PE1 3 +NX_Q15750 504 54644 5.31 0 Cytosol;Nucleus speckle NA PE1 22 +NX_Q15751 4861 532228 5.69 0 Golgi apparatus;Cytosol;Membrane Macrocephaly, dysmorphic facies, and psychomotor retardation PE1 15 +NX_Q15758 541 56598 5.34 10 Melanosome;Cell membrane;Cell membrane NA PE1 19 +NX_Q15759 364 41357 5.56 0 Nucleus;Mitochondrion;Cytoplasm NA PE1 22 +NX_Q15760 415 47687 9.6 7 Cell membrane NA PE2 12 +NX_Q15761 445 50727 9 7 Cell membrane NA PE2 4 +NX_Q15762 336 38614 8.11 1 Cell membrane NA PE1 18 +NX_Q15768 340 35835 8.85 1 Membrane;Nucleoplasm NA PE1 17 +NX_Q15771 203 23058 4.91 0 trans-Golgi network;Cytoplasm;Golgi apparatus;Cytoplasmic vesicle;Membrane NA PE1 11 +NX_Q15772 3267 354289 8.82 0 Cytoplasmic vesicle;Nucleus Myopathy, centronuclear, 5 PE1 2 +NX_Q15773 248 28147 6.4 0 Cytoplasm;Nucleus;Nucleoplasm;Cell membrane;Cytosol NA PE1 12 +NX_Q15776 578 65816 7.04 0 Cytosol;Nucleus;Nucleus NA PE1 6 +NX_Q15777 294 33360 5.85 0 Mitochondrion;Cytoplasmic vesicle;Nucleolus NA PE1 11 +NX_Q15782 390 43501 7.11 0 Secreted NA PE1 1 +NX_Q15784 382 41361 6.29 0 Nucleus NA PE1 17 +NX_Q15785 309 34559 9.12 0 Cytosol;Mitochondrion outer membrane;Cytoplasm NA PE1 20 +NX_Q15788 1441 156757 5.84 0 Nucleus;Cell membrane;Nucleoplasm;Cytosol NA PE1 2 +NX_Q15796 467 52306 6.13 0 Nucleus;Cytosol;Cytoplasm;Nucleus;Nucleolus NA PE1 18 +NX_Q15797 465 52260 6.9 0 Cell membrane;Nucleus;Nucleus;Cytoplasm;Cytosol NA PE1 4 +NX_Q15800 293 35216 6.75 3 Endoplasmic reticulum membrane Microcephaly, congenital cataract, and psoriasiform dermatitis PE1 4 +NX_Q15811 1721 195422 7.76 0 Cell membrane;Synaptosome;Lamellipodium;Endomembrane system;Clathrin-coated pit NA PE1 21 +NX_Q15813 527 59346 6.32 0 Cytoplasm;Cytoskeleton Kenny-Caffey syndrome 1;Encephalopathy, progressive, with amyotrophy and optic atrophy;Hypoparathyroidism-retardation-dysmorphism syndrome PE1 1 +NX_Q15814 346 39248 5.55 0 Cytoplasm;Cytosol NA PE1 6 +NX_Q15818 432 47122 6.16 0 Secretory vesicle NA PE1 17 +NX_Q15819 145 16363 7.79 0 Nucleus;Cytoplasm NA PE1 8 +NX_Q15822 529 59765 5.69 4 Postsynaptic cell membrane;Cell membrane Epilepsy, nocturnal frontal lobe, 4 PE1 8 +NX_Q15825 494 56898 6.16 4 Cell membrane;Postsynaptic cell membrane NA PE1 8 +NX_Q15828 149 16511 8.32 0 Cell membrane;Cytosol;Secreted NA PE1 11 +NX_Q15831 433 48636 7.12 0 Cytosol;Membrane;Cytoplasm;Mitochondrion;Nucleus;Nucleoplasm Peutz-Jeghers syndrome;Testicular germ cell tumor PE1 19 +NX_Q15833 593 66453 6.11 0 Cytosol Familial hemophagocytic lymphohistiocytosis 5 PE1 19 +NX_Q15834 202 22091 5.06 0 Nucleus;Centrosome NA PE1 11 +NX_Q15835 563 63526 5.63 0 Membrane Night blindness, congenital stationary, Oguchi type 2 PE1 13 +NX_Q15836 100 11309 8.89 1 Synaptosome;Membrane NA PE1 1 +NX_Q15842 424 47968 9.38 2 Membrane Hypertrichotic osteochondrodysplasia;Sudden infant death syndrome PE1 12 +NX_Q15843 81 9072 7.99 0 Cytosol;Nucleoplasm;Nucleus NA PE1 14 +NX_Q15846 466 54215 5.09 0 Cytoplasmic vesicle;Secreted NA PE1 18 +NX_Q15847 76 7855 5.17 0 Cytosol;Nucleus;Nucleoplasm NA PE1 10 +NX_Q15848 244 26414 5.42 0 Secreted Diabetes mellitus, non-insulin-dependent;Adiponectin deficiency PE1 3 +NX_Q15849 920 101209 6.51 17 Apical cell membrane NA PE1 18 +NX_Q15853 346 36955 4.97 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_Q15858 1988 226372 6.55 24 Focal adhesion;Cell membrane;Cell membrane;Cell projection;Cytoskeleton Generalized epilepsy with febrile seizures plus 7;Paroxysmal extreme pain disorder;Febrile seizures, familial, 3B;Indifference to pain, congenital, autosomal recessive;Primary erythermalgia PE1 2 +NX_Q15878 2313 261731 8.52 24 Cell membrane;Membrane;Cytoskeleton;Cytosol NA PE1 1 +NX_Q15884 450 49703 6.57 1 Membrane NA PE1 9 +NX_Q15904 470 52026 5.73 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Cytosol;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cell membrane;Cytoskeleton Immunodeficiency 47 PE1 X +NX_Q15906 364 40594 6.09 0 Nucleus speckle;Nucleus NA PE1 1 +NX_Q15907 218 24489 5.64 0 Microtubule organizing center;Cytoplasmic vesicle;Phagosome membrane;Recycling endosome membrane;Synaptic vesicle membrane NA PE1 19 +NX_Q15910 746 85363 6.65 0 Nucleoplasm;Nucleus Weaver syndrome PE1 7 +NX_Q15911 3703 404419 5.82 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 16 +NX_Q15915 447 48309 8.7 0 Cytoplasm;Nucleoplasm;Nucleus Craniosynostosis 6 PE1 3 +NX_Q15916 424 48236 6.29 0 Mitochondrion;Nucleus;Nucleoplasm NA PE1 9 +NX_Q15928 474 55249 9.43 0 Nucleus Polydactyly, postaxial A6 PE1 4 +NX_Q15929 161 18651 8.85 0 Nucleus NA PE5 19 +NX_Q15935 545 61964 9.04 0 Nucleus;Nucleolus;Nucleus NA PE1 19 +NX_Q15937 498 55350 8.54 0 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA PE1 9 +NX_Q15940 193 22988 9.85 0 NA NA PE5 19 +NX_Q15942 572 61277 6.22 0 Focal adhesion;Cytoplasm;Cytoskeleton;Nucleus;Focal adhesion NA PE1 7 +NX_Q15973 351 40217 9.11 0 Nucleus membrane;Nucleus;Nucleus NA PE1 1 +NX_Q16048 86 9715 6.72 0 NA NA PE5 5 +NX_Q16082 182 20233 5.07 0 Cytoplasm;Nucleus NA PE1 11 +NX_Q16099 956 107246 6.3 3 Cell membrane;Postsynaptic cell membrane NA PE2 11 +NX_Q16134 617 68495 7.31 0 Mitochondrion inner membrane Glutaric aciduria 2C PE1 4 +NX_Q16143 134 14288 4.41 0 Cytoplasm NA PE1 5 +NX_Q16181 437 50680 8.76 0 Cytoskeleton;Cytoskeleton;Cleavage furrow;Midbody;Cilium axoneme;Flagellum;Cytoplasm;Kinetochore;Spindle NA PE1 7 +NX_Q16186 407 42153 4.96 0 Cytosol;Cell membrane;Cytoplasm;Nucleus;Nucleoplasm NA PE1 20 +NX_Q16204 474 53291 6.87 0 Cytosol;Cytoplasm;Cytoskeleton NA PE1 10 +NX_Q16206 610 70082 5.67 0 Cell membrane;Extracellular space;Nucleus;Cytoskeleton NA PE1 X +NX_Q16222 522 58769 5.92 0 Cytoplasm;Cell membrane;Cytoplasm;Nucleoplasm;Cytosol NA PE1 1 +NX_Q16236 605 67827 4.67 0 Cytoplasm;Nucleus;Cytosol;Nucleus;Cell membrane;Nucleus;Cytosol NA PE1 2 +NX_Q16254 413 43960 4.66 0 Nucleus;Nucleoplasm NA PE1 16 +NX_Q16270 282 29130 8.25 0 Golgi apparatus;Secreted Retinal arterial macroaneurysm with supravalvular pulmonic stenosis PE1 4 +NX_Q16280 664 76048 5.88 6 Membrane NA PE2 X +NX_Q16281 694 78838 7.56 6 Membrane Achromatopsia 2 PE1 2 +NX_Q16288 839 94428 6.12 1 Nucleus membrane;Nucleolus;Membrane NA PE1 15 +NX_Q16322 511 57785 4.85 6 Membrane;Nucleoplasm;Cytosol NA PE1 1 +NX_Q16342 344 38592 5.25 0 Nucleoplasm;Nucleus;Cytoskeleton NA PE1 6 +NX_Q16348 729 81783 8.4 13 Membrane NA PE1 3 +NX_Q16352 499 55391 5.34 0 Nucleoplasm;Cytoskeleton;Nucleus membrane NA PE1 10 +NX_Q16363 1823 202524 5.89 0 Cytosol;Basement membrane;Cell membrane Cardiomyopathy, dilated 1JJ PE1 6 +NX_Q16378 134 15097 6.5 0 Secreted;Cytoplasmic vesicle NA PE1 12 +NX_Q16384 188 21931 9.46 0 NA NA PE1 X +NX_Q16385 188 21620 5.61 0 Nucleus NA PE1 X +NX_Q16394 746 86255 9.16 1 Endoplasmic reticulum membrane;Golgi apparatus membrane Chondrosarcoma;Hereditary multiple exostoses 1;Tricho-rhino-phalangeal syndrome 2 PE1 8 +NX_Q16401 504 56196 5.35 0 Nucleus;Cytosol NA PE1 9 +NX_Q16445 453 51024 8.39 4 Postsynaptic cell membrane;Cell membrane NA PE2 5 +NX_Q16473 311 33740 5.29 0 NA NA PE5 6 +NX_Q16478 980 109265 8.54 3 Postsynaptic cell membrane;Cell membrane NA PE1 19 +NX_Q16512 942 103932 5.99 0 Cytoplasm;Nucleus;Cytosol;Cytoplasm;Nucleus;Endosome;Cell membrane;Cleavage furrow;Midbody;Nucleus NA PE1 19 +NX_Q16513 984 112035 5.95 0 Cell junction;Midbody;Cleavage furrow;Cytoskeleton;Lamellipodium;Cytoplasm;Nucleus;Membrane NA PE1 1 +NX_Q16514 161 17924 7.78 0 Nucleus NA PE1 1 +NX_Q16515 512 57709 5.07 2 Cell membrane NA PE1 17 +NX_Q16517 81 9237 10.17 0 NA NA PE2 20 +NX_Q16518 533 60948 6.05 0 Cell membrane;Microsome membrane;Cytoplasm Retinitis pigmentosa 20;Leber congenital amaurosis 2 PE1 1 +NX_Q16520 125 14120 8.82 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 14 +NX_Q16526 586 66395 8.27 0 Nucleus membrane;Nucleus;Cytoplasm;Nucleus;Cytoskeleton Delayed sleep phase syndrome PE1 12 +NX_Q16527 193 20954 8.95 0 Nucleus NA PE1 12 +NX_Q16531 1140 126968 5.14 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 11 +NX_Q16533 368 42994 9.53 0 Nucleoplasm;Nucleus NA PE1 14 +NX_Q16534 295 33199 7.76 0 Nucleus;Nucleus NA PE2 17 +NX_Q16537 467 54699 6.51 0 Cytosol;Cytoplasm NA PE1 14 +NX_Q16538 588 63930 8.83 7 Microtubule organizing center;Cell membrane NA PE1 12 +NX_Q16539 360 41293 5.48 0 Cytoplasm;Nucleus speckle;Nucleus NA PE1 6 +NX_Q16540 153 17781 9.69 0 Nucleolus;Mitochondrion;Mitochondrion NA PE1 11 +NX_Q16543 378 44468 5.17 0 Nucleus;Cytosol;Cytoplasm;Cytoplasm NA PE1 19 +NX_Q16548 175 20132 5.32 0 Cytoplasm NA PE1 15 +NX_Q16549 785 86247 5.51 1 trans-Golgi network membrane;Nucleus membrane;Nucleolus;Nucleus NA PE1 11 +NX_Q16552 155 17504 8.82 0 Secreted NA PE1 6 +NX_Q16553 131 13507 8.06 0 Cell membrane NA PE1 8 +NX_Q16555 572 62294 5.95 0 Membrane;Cytoskeleton;Cytosol;Cell membrane;Cytosol NA PE1 8 +NX_Q16557 428 47945 8.74 0 Secreted NA PE1 19 +NX_Q16558 191 21797 9.12 2 Membrane NA PE1 5 +NX_Q16559 108 12291 10.48 0 Cytosol NA PE1 9 +NX_Q16560 246 29450 9.86 0 Nucleolus;Nucleus NA PE1 12 +NX_Q16563 259 28565 8.69 4 Cytoplasmic vesicle membrane;Melanosome NA PE1 7 +NX_Q16566 473 51926 5.6 0 Nucleolus;Nucleoplasm;Cytoplasm;Nucleus NA PE1 5 +NX_Q16568 116 12829 8.55 0 Secreted NA PE1 5 +NX_Q16570 336 35553 6.1 7 Early endosome;Recycling endosome;Membrane NA PE1 1 +NX_Q16572 532 56903 5.81 12 Membrane Myasthenic syndrome, congenital, 21, presynaptic PE1 10 +NX_Q16576 425 47820 4.89 0 Nucleus NA PE1 X +NX_Q16581 482 53864 6.2 7 Cell membrane NA PE1 12 +NX_Q16584 847 92688 8.4 0 Centrosome;Cytosol;Microtubule organizing center NA PE1 11 +NX_Q16585 318 34777 8.86 1 Cytosol;Sarcolemma;Cytoskeleton Limb-girdle muscular dystrophy 2E PE1 4 +NX_Q16586 387 42875 5.5 1 Sarcolemma;Cytoskeleton Limb-girdle muscular dystrophy 2D PE1 17 +NX_Q16587 644 72207 8.77 0 Nucleus;Nucleoplasm;Cytoskeleton NA PE1 22 +NX_Q16589 344 38866 5.33 0 Cytosol;Cytoplasm;Nucleoplasm NA PE1 4 +NX_Q16594 264 28974 8.77 0 Nucleus NA PE1 5 +NX_Q16595 210 23135 8.8 0 Mitochondrion;Cytosol;Mitochondrion;Cytosol Friedreich ataxia PE1 9 +NX_Q16600 458 51591 7.71 0 Nucleus;Nucleus;Nucleus NA PE1 10 +NX_Q16602 461 52929 6.27 7 Cell membrane;Cell membrane NA PE1 2 +NX_Q16609 132 14886 5.21 0 Secreted NA PE5 6 +NX_Q16610 540 60674 6.25 0 Nucleoplasm;Extracellular matrix;Cytosol Lipoid proteinosis PE1 1 +NX_Q16611 211 23409 5.66 1 Mitochondrion membrane NA PE1 6 +NX_Q16612 68 7909 9.16 0 Cytoplasmic vesicle;Cytoplasm NA PE1 5 +NX_Q16613 207 23344 7.2 0 Cytosol;Cytoplasm NA PE1 17 +NX_Q16617 165 17665 5.88 4 Cytoplasmic vesicle;Cell membrane;Cytoplasmic granule membrane NA PE1 19 +NX_Q16619 201 21227 9.18 0 Secreted NA PE1 16 +NX_Q16620 822 91999 6.01 1 Cell membrane;Endosome membrane;Early endosome membrane;Cytosol Obesity, hyperphagia, and developmental delay PE1 9 +NX_Q16621 373 41473 4.89 0 PML body;Cytoplasm NA PE1 12 +NX_Q16623 288 33023 5.14 1 Synaptic vesicle membrane;Synaptosome;Cell membrane;Secreted NA PE1 7 +NX_Q16625 522 59144 5.77 4 Cell membrane;Tight junction;Cell membrane;Cell junction Pseudo-TORCH syndrome 1 PE1 5 +NX_Q16626 185 19905 4.13 0 Nucleus;Cytosol NA PE1 6 +NX_Q16627 93 10678 8.95 0 Secreted NA PE1 17 +NX_Q16629 238 27367 11.83 0 Nucleus;Cytoplasm;Nucleus;Nucleoplasm NA PE1 2 +NX_Q16630 551 59210 6.66 0 Nucleus speckle;Nucleoplasm;Nucleus NA PE1 12 +NX_Q16633 256 27436 4.87 0 Nucleus NA PE1 11 +NX_Q16635 292 33459 9.1 1 Endoplasmic reticulum;Cytoplasm;Membrane;Cell membrane Barth syndrome PE1 X +NX_Q16637 294 31849 6.13 0 Cajal body;Nucleus;Cytosol;Gem;Z line;Cytoplasmic granule;Perikaryon;Cell projection;Cytoplasm Spinal muscular atrophy 4;Spinal muscular atrophy 1;Spinal muscular atrophy 3;Spinal muscular atrophy 2 PE1 5 +NX_Q16643 649 71429 4.41 0 Cytoskeleton;Cell membrane;Cytoplasm;Cell cortex;Cell membrane;Cytoskeleton;Growth cone;Cell projection;Cell junction NA PE1 5 +NX_Q16644 382 42987 6.87 0 Nucleoplasm;Cytoplasm;Nucleus Macular dystrophy, patterned, 3 PE1 3 +NX_Q16647 500 57104 6.8 1 Endoplasmic reticulum membrane Essential hypertension PE1 20 +NX_Q16649 462 51472 6.7 0 Nucleus;Nucleus NA PE1 9 +NX_Q16650 682 74053 6.89 0 Nucleus NA PE1 2 +NX_Q16651 343 36431 5.52 1 Cytosol;Cell membrane;Extracellular space;Extracellular space NA PE1 16 +NX_Q16653 247 28193 8.87 2 Cell membrane;Cell membrane Narcolepsy 7 PE1 6 +NX_Q16654 411 46469 6.19 0 Mitochondrion matrix NA PE1 7 +NX_Q16655 118 13157 8.29 1 Endoplasmic reticulum membrane;Golgi apparatus;trans-Golgi network membrane;Melanosome NA PE1 9 +NX_Q16656 503 53541 4.94 0 Cytosol;Nucleoplasm;Nucleus NA PE1 7 +NX_Q16658 493 54530 6.84 0 Cytosol;Cell membrane;Cytosol;Cytoskeleton;Filopodium;Invadopodium;Microvillus;Cell junction NA PE1 7 +NX_Q16659 721 82681 4.91 0 Cytosol;Nucleus;Cytoplasm NA PE1 15 +NX_Q16661 112 12069 6.02 0 Secreted NA PE1 1 +NX_Q16663 113 12248 8.49 0 Golgi apparatus;Secreted;Cytoplasmic vesicle NA PE1 17 +NX_Q16665 826 92670 5.17 0 Cell membrane;Nucleus speckle;Cytoplasm;Nucleus;Nucleoplasm;Nucleus NA PE1 14 +NX_Q16666 785 88256 9.31 0 Cytosol;Nucleus;Cytoplasm;Nucleus;Nucleolus NA PE1 1 +NX_Q16667 212 23805 5.97 0 Cytoplasm;Cytosol;Perinuclear region Hepatocellular carcinoma PE1 14 +NX_Q16670 478 55254 8.36 0 Nucleus;Nucleolus;Nucleus NA PE1 6 +NX_Q16671 573 62750 5.53 1 Cytoplasmic vesicle;Membrane Persistent Muellerian duct syndrome 2 PE1 12 +NX_Q16674 131 14509 9.04 0 Secreted NA PE1 19 +NX_Q16676 465 46140 5.03 0 Nucleus NA PE1 5 +NX_Q16678 543 60846 9.18 0 Mitochondrion;Mitochondrion;Endoplasmic reticulum membrane;Microsome membrane Glaucoma 3, primary congenital, A;Glaucoma 1, open angle, A;Glaucoma, primary open angle;Anterior segment dysgenesis 6 PE1 2 +NX_Q16690 384 42047 8.69 0 Nucleus NA PE1 10 +NX_Q16695 136 15508 11.13 0 Nucleus;Chromosome;Nucleoplasm NA PE1 1 +NX_Q16696 494 56688 9.31 0 Endoplasmic reticulum membrane;Microsome membrane NA PE1 19 +NX_Q16698 335 36068 9.35 0 Cytosol;Mitochondrion;Mitochondrion 2,4-dienoyl-CoA reductase deficiency PE1 8 +NX_Q16706 1144 131141 7.24 1 Golgi apparatus membrane;Golgi apparatus NA PE1 5 +NX_Q16718 116 13459 5.75 0 Mitochondrion inner membrane NA PE1 7 +NX_Q16719 465 52352 6.56 0 Cytoplasm Hydroxykynureninuria PE1 2 +NX_Q16720 1220 134197 5.45 10 Cell membrane;Golgi apparatus;Cell membrane Spinocerebellar ataxia, X-linked 1 PE1 X +NX_Q16739 394 44854 7.94 5 Cell membrane;Cytoplasm;Golgi apparatus membrane NA PE1 9 +NX_Q16740 277 30180 8.26 0 Mitochondrion matrix;Mitochondrion Perrault syndrome 3 PE1 19 +NX_Q16760 1214 134525 7.62 0 Cytosol;Cytoplasm;Membrane NA PE1 2 +NX_Q16762 297 33429 6.77 0 Mitochondrion matrix;Mitochondrion NA PE1 22 +NX_Q16763 222 23845 8.45 0 Nucleoplasm;Cell membrane NA PE1 19 +NX_Q16769 361 40877 6.12 0 Cytosol;Secreted NA PE1 2 +NX_Q16772 222 25302 9.21 0 Cytoplasm NA PE1 6 +NX_Q16773 422 47875 6.02 0 Cytoplasm;Cytosol;Nucleoplasm NA PE1 9 +NX_Q16774 197 21726 6.11 0 NA NA PE1 1 +NX_Q16775 308 33806 8.34 0 Mitochondrion matrix;Cytoplasm NA PE1 16 +NX_Q16777 129 13988 10.9 0 Nucleus;Chromosome NA PE1 1 +NX_Q16778 126 13920 10.31 0 Nucleus;Chromosome NA PE1 1 +NX_Q16787 3333 366649 7.03 0 Cytoplasmic vesicle;Basement membrane;Endoplasmic reticulum;Cytosol Epidermolysis bullosa, junctional, Herlitz type;Laryngoonychocutaneous syndrome PE1 18 +NX_Q16790 459 49698 4.64 1 Cell membrane;Nucleus;Nucleolus;Cell membrane;Microvillus membrane;Cytosol NA PE1 9 +NX_Q16795 377 42510 9.81 0 Nucleoplasm;Mitochondrion;Mitochondrion matrix Leigh syndrome PE1 12 +NX_Q16798 604 67068 8.16 0 Mitochondrion matrix NA PE1 11 +NX_Q16799 776 83618 4.62 2 Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 14 +NX_Q16816 387 45024 6.4 0 NA NA PE1 7 +NX_Q16819 746 84419 5.43 1 Membrane NA PE1 6 +NX_Q16820 701 79571 5.45 1 Cell membrane;Secreted NA PE1 18 +NX_Q16821 1122 125767 4.91 1 Membrane Diabetes mellitus, non-insulin-dependent PE1 7 +NX_Q16822 640 70730 7.57 0 Mitochondrion;Mitochondrion Mitochondrial phosphoenolpyruvate carboxykinase deficiency PE1 14 +NX_Q16825 1174 133281 8 0 Nucleus;Cytoskeleton NA PE1 14 +NX_Q16827 1216 138344 5.68 1 Membrane Nephrotic syndrome 6 PE1 12 +NX_Q16828 381 42320 4.75 0 Cytosol;Nucleoplasm;Cytoplasm Hypogonadotropic hypogonadism 19 with or without anosmia PE1 12 +NX_Q16829 419 44957 5.73 0 Cytoplasm NA PE1 3 +NX_Q16831 310 33934 8.17 0 Nucleoplasm NA PE1 7 +NX_Q16832 855 96736 5.2 1 Cell membrane;Cytoskeleton;Cell membrane Spondyloepimetaphyseal dysplasia short limb-hand type PE1 1 +NX_Q16836 314 34294 8.88 0 Mitochondrion matrix;Mitochondrion 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency;Familial hyperinsulinemic hypoglycemia 4 PE1 4 +NX_Q16842 350 40173 8.59 1 Golgi stack membrane;Cytoplasmic vesicle;Secreted NA PE1 16 +NX_Q16849 979 105848 6.67 1 Endosome;Secretory vesicle membrane;Membrane;Secretory vesicle membrane;Cell membrane;Nucleus;Perikaryon;Axon;Synapse;Endoplasmic reticulum NA PE1 2 +NX_Q16850 503 56806 8.72 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Microsome membrane NA PE1 7 +NX_Q16851 508 56940 8.15 0 Cytoplasm;Centrosome;Mitochondrion;Nucleoplasm;Cytoplasm NA PE1 2 +NX_Q16853 763 84622 6.05 1 Cell membrane;Golgi apparatus;Cytosol NA PE1 17 +NX_Q16854 277 32056 8.76 0 Mitochondrion Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4;Mitochondrial DNA depletion syndrome 3;Portal hypertension, non-cirrhotic PE1 2 +NX_Q16864 119 13370 5.29 0 NA NA PE1 7 +NX_Q16873 150 16567 10.2 4 Nucleus outer membrane;Endoplasmic reticulum membrane NA PE1 5 +NX_Q16875 520 59609 8.49 0 Nucleoplasm NA PE1 10 +NX_Q16877 469 54040 6.21 0 Nucleolus NA PE1 3 +NX_Q16878 200 22972 6.11 0 Nucleoplasm NA PE1 5 +NX_Q16880 541 61438 9.54 1 Mitochondrion;Membrane NA PE1 4 +NX_Q16881 649 70906 7.16 0 Cytoplasm;Nucleus;Nucleus;Cytoplasm;Nucleus NA PE1 12 +NX_Q16890 204 22449 5.45 0 Cell membrane;Cytosol;Cell junction NA PE1 6 +NX_Q16891 758 83678 6.08 1 Mitochondrion;Mitochondrion;Mitochondrion inner membrane NA PE1 2 +NX_Q17R31 274 30333 6.67 0 Nucleoplasm;Golgi apparatus;Focal adhesion;Nucleus NA PE1 1 +NX_Q17R55 369 42387 6.46 1 Membrane NA PE1 19 +NX_Q17R60 797 89387 4.79 0 Secreted Macular dystrophy, vitelliform, 4 PE1 6 +NX_Q17R89 818 89247 6.13 0 Dendritic spine;Recycling endosome;Synapse NA PE1 17 +NX_Q17R98 1081 119165 6.43 0 Nucleoplasm;Nucleus NA PE1 4 +NX_Q17RA5 79 8913 7.76 0 NA NA PE5 21 +NX_Q17RB0 113 13246 5.17 0 NA NA PE1 X +NX_Q17RB8 773 86725 6.93 0 Cell membrane;Cytosol;Centrosome NA PE1 8 +NX_Q17RC7 722 79896 5.92 0 NA NA PE1 14 +NX_Q17RD7 645 72274 5.39 0 NA NA PE1 14 +NX_Q17RF5 130 15556 10.51 0 Secreted Amelogenesis imperfecta, hypomaturation type, 2A4 PE1 4 +NX_Q17RG1 926 104938 5.84 0 NA NA PE1 16 +NX_Q17RH7 258 24139 11.48 0 NA NA PE5 3 +NX_Q17RM4 750 81643 6.58 0 NA NA PE1 2 +NX_Q17RN3 349 37329 6.89 0 Nucleolus;Cytosol;Nucleus NA PE1 19 +NX_Q17RP2 521 58656 6.34 0 Nucleus;Nucleus;Cytoskeleton;Nucleoplasm;Cytoplasmic vesicle NA PE2 5 +NX_Q17RQ9 610 67780 9.13 3 Membrane NA PE1 19 +NX_Q17RR3 467 52254 8.56 0 Secreted NA PE2 10 +NX_Q17RS7 908 102884 8.04 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q17RW2 1714 175496 8.46 0 Extracellular matrix NA PE1 1 +NX_Q17RY0 729 80152 6.7 0 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm;Golgi apparatus;Dendrite;Dendritic spine;Postsynaptic density;Axon;Growth cone;Endoplasmic reticulum;Perinuclear region NA PE1 5 +NX_Q17RY6 165 18673 7.43 0 Cell membrane;Secreted;Acrosome;Membrane raft;Cytoplasm;Cell membrane;Nucleoplasm NA PE1 8 +NX_Q18PE1 504 53097 6.43 0 Synapse;Nucleoplasm;Cell membrane;Mitochondrion Myasthenic syndrome, congenital, 10 PE1 4 +NX_Q19AV6 140 15386 6.7 0 Nucleus;Cytosol NA PE1 17 +NX_Q19T08 205 21295 7.73 1 Cell membrane;Cytoplasm NA PE1 5 +NX_Q1A5X6 159 18226 9.52 0 NA NA PE2 3 +NX_Q1A5X7 153 18091 5.71 0 Nucleus NA PE5 15 +NX_Q1AE95 376 42940 9.25 1 Membrane NA PE2 3 +NX_Q1ED39 458 51589 9.86 0 Nucleolus;Cytosol;Nucleolus NA PE1 16 +NX_Q1EHB4 618 67647 8.44 13 Endoplasmic reticulum;Apical cell membrane NA PE1 11 +NX_Q1HG43 343 37815 6.3 5 Membrane NA PE1 15 +NX_Q1HG44 320 34787 8.51 5 Endoplasmic reticulum membrane Thyroid dyshormonogenesis 5 PE1 15 +NX_Q1KMD3 747 85105 4.85 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q1L5Z9 754 83654 5.65 0 Nucleus NA PE1 2 +NX_Q1L6U9 139 14993 6.96 0 Cytosol;Cytoplasmic vesicle;Secreted NA PE1 9 +NX_Q1MSJ5 1256 145522 6.37 0 Microtubule organizing center;Spindle;Centrosome;Spindle pole Joubert syndrome 21 PE1 8 +NX_Q1MX18 579 63469 5.37 0 Cytoplasm;Cell cortex NA PE1 11 +NX_Q1RMZ1 405 46324 5.75 0 Cytosol NA PE1 7 +NX_Q1RN00 199 22217 9.19 0 NA NA PE1 3 +NX_Q1T7F1 81 8815 6.05 0 Cytoplasm NA PE5 19 +NX_Q1W209 222 24186 9.39 0 Nucleus NA PE2 3 +NX_Q1W4C9 94 11051 8.51 0 Cell membrane;Secreted;Nucleus NA PE2 5 +NX_Q1W6H9 321 33863 9.93 0 Cytoskeleton;Centrosome;Nucleus;Spindle pole NA PE1 2 +NX_Q1X8D7 754 83823 6.68 0 NA NA PE1 16 +NX_Q1XH10 827 90476 7.63 0 NA NA PE1 10 +NX_Q1ZYL8 232 26510 7.18 0 Secreted;Nucleoplasm;Cytoplasmic vesicle NA PE1 19 +NX_Q1ZZU3 235 26739 10.25 0 Nucleus;Cytosol;Nucleoplasm NA PE1 9 +NX_Q24JP5 1023 110110 5.43 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Mitochondrion NA PE1 11 +NX_Q24JQ0 296 32647 8.97 10 Membrane;Cytoplasmic vesicle;Golgi apparatus NA PE2 18 +NX_Q27J81 1249 135624 5.26 0 Endoplasmic reticulum;Perinuclear region;Nucleus Charcot-Marie-Tooth disease, dominant, intermediate type, E;Focal segmental glomerulosclerosis 5 PE1 14 +NX_Q29718 362 40421 5.66 1 Membrane NA PE1 6 +NX_Q29836 362 40342 5.77 1 Membrane NA PE1 6 +NX_Q29865 366 40933 6.18 1 Membrane NA PE1 6 +NX_Q29940 362 40584 5.89 1 Membrane NA PE1 6 +NX_Q29960 366 40753 6.09 1 Cell membrane;Secreted NA PE1 6 +NX_Q29963 366 40969 5.68 1 Membrane Psoriasis 1 PE1 6 +NX_Q29974 266 30030 7.64 1 Late endosome membrane;Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane NA PE1 6 +NX_Q29980 383 42646 6.5 1 Cell membrane Rheumatoid arthritis PE1 6 +NX_Q29983 383 42915 6.49 1 Cytoplasm;Cell membrane Psoriasis 1;Psoriatic arthritis PE1 6 +NX_Q29RF7 1337 150830 8.15 0 Nucleoplasm;Nucleus NA PE1 4 +NX_Q2HXU8 276 31616 5.5 1 Cell membrane NA PE1 12 +NX_Q2I0M4 334 34857 9.6 1 Cell membrane;Cell membrane;Cytoskeleton NA PE1 9 +NX_Q2I0M5 234 26171 9.38 0 Secreted Nail disorder, non-syndromic congenital, 4 PE1 20 +NX_Q2KHM9 967 109407 7.6 0 Cytosol;Centriole;Centrosome;Centriolar satellite;Centrosome Orofaciodigital syndrome 15 PE1 17 +NX_Q2KHN1 245 27412 9.07 0 Cytoplasm;Nucleus NA PE1 16 +NX_Q2KHR2 1363 146896 6.29 0 Nucleus;Nucleus membrane;Nucleus;Nucleus NA PE1 15 +NX_Q2KHR3 1735 189972 6.61 0 Cytosol;Nucleoplasm NA PE1 11 +NX_Q2KHT3 1053 117715 5.55 0 Endosome membrane;Lysosome membrane;Nucleus;Cytoplasmic vesicle Diabetes mellitus, insulin-dependent PE1 16 +NX_Q2KHT4 349 39248 8.25 4 Endoplasmic reticulum membrane NA PE1 12 +NX_Q2KJY2 2108 223883 8.76 0 Cytoskeleton;Cell membrane;Cytoskeleton;Cytoplasm NA PE1 1 +NX_Q2L4Q9 553 58410 5.46 0 Secreted NA PE2 16 +NX_Q2LD37 5005 555482 6.12 1 Membrane;Centrosome;Nucleoplasm NA PE1 4 +NX_Q2M1K9 1284 144605 6.43 0 Nucleus;Nucleus Nephronophthisis 14;Joubert syndrome 19 PE1 16 +NX_Q2M1P5 1343 150587 6.37 0 Cilium basal body;Cilium Hydrolethalus syndrome 2;Al-Gazali-Bakalinova syndrome;Joubert syndrome 12;Pallister-Hall syndrome;Bardet-Biedl syndrome;Acrocallosal syndrome PE1 15 +NX_Q2M1V0 245 27011 8.91 0 Nucleus;Nucleus;Nucleoplasm NA PE1 22 +NX_Q2M1Z3 1444 156985 5.55 0 Lamellipodium;Focal adhesion Adams-Oliver syndrome 1 PE1 3 +NX_Q2M218 657 76094 9.07 0 Cytosol;Nucleus;Nucleus NA PE1 X +NX_Q2M238 152 17255 9.03 0 NA NA PE5 16 +NX_Q2M243 656 75354 5.53 0 NA NA PE1 1 +NX_Q2M296 383 42173 8.93 0 Cytoplasmic vesicle;Nucleus NA PE1 16 +NX_Q2M2D7 210 24072 9.69 0 NA NA PE2 17 +NX_Q2M2E3 257 29233 6.71 3 Membrane NA PE1 17 +NX_Q2M2E5 130 14817 9.54 0 Secreted NA PE2 5 +NX_Q2M2H8 2515 277990 5.02 1 Cytoplasmic vesicle;Membrane;Cytosol NA PE1 7 +NX_Q2M2I3 478 51780 9.42 0 NA NA PE1 19 +NX_Q2M2I5 525 55087 4.89 0 Cytoskeleton;Cytosol NA PE1 17 +NX_Q2M2I8 961 103885 6.16 0 Cytosol;Cell membrane;Clathrin-coated pit;Cell membrane NA PE1 2 +NX_Q2M2W7 97 11219 10.7 0 Cytosol;Cell membrane NA PE1 17 +NX_Q2M2Z5 673 75111 5.44 0 Cilium basal body;Centrosome Retinitis pigmentosa 69 PE1 20 +NX_Q2M329 555 62711 4.92 0 Centrosome NA PE1 4 +NX_Q2M385 716 78587 7.77 1 Membrane NA PE1 11 +NX_Q2M389 1173 136403 7.1 0 Nucleoplasm;Early endosome Mental retardation, autosomal recessive 43 PE1 12 +NX_Q2M3A8 158 16456 6.69 0 NA NA PE5 11 +NX_Q2M3C6 531 58444 4.63 3 Membrane;Cell membrane;Cell membrane;Cytosol NA PE1 15 +NX_Q2M3C7 1700 186456 5.04 0 Cytoplasm NA PE1 2 +NX_Q2M3D2 409 45859 7.65 0 Nucleus;Cytoplasmic vesicle NA PE1 19 +NX_Q2M3G0 1257 138641 7.29 11 Cell membrane NA PE1 7 +NX_Q2M3G4 852 90786 5.81 0 Cytoplasmic vesicle;Cytoskeleton NA PE1 5 +NX_Q2M3M2 681 74073 6.71 14 Cytoskeleton;Cytosol;Membrane NA PE1 1 +NX_Q2M3R5 365 39836 8.46 10 Endoplasmic reticulum membrane;Cell membrane NA PE1 10 +NX_Q2M3T9 481 54249 8.68 2 Membrane NA PE1 7 +NX_Q2M3V2 549 57443 10.19 0 NA NA PE1 5 +NX_Q2M3W8 571 65842 9.12 0 Nucleus;Nucleus NA PE1 19 +NX_Q2M3X9 581 67199 9.32 0 Nucleus NA PE1 X +NX_Q2M5E4 152 17671 6.6 0 NA NA PE2 1 +NX_Q2MJR0 410 42670 8.67 0 Nucleoplasm;Cytosol;Cell membrane;Membrane NA PE2 19 +NX_Q2MKA7 263 28959 9.46 0 Secreted;Nucleus Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal PE1 1 +NX_Q2MV58 587 63570 5.32 0 Cytoskeleton;Secreted;Cilium basal body;Nucleoplasm Joubert syndrome 13 PE1 12 +NX_Q2NKJ3 1217 134609 8.23 0 Nucleus;Telomere Cerebroretinal microangiopathy with calcifications and cysts 1 PE1 17 +NX_Q2NKQ1 1148 129718 5.43 0 trans-Golgi network;Cytoplasmic vesicle membrane;Cytoplasm NA PE1 22 +NX_Q2NKX8 1250 141103 5.19 0 Cytosol;Centromere;Kinetochore;Nucleoplasm;Centrosome NA PE1 X +NX_Q2NKX9 166 18751 8.44 0 Nucleus;Nucleus membrane;Nucleolus;Mitochondrion NA PE1 2 +NX_Q2NL67 630 71115 8.6 0 Cell membrane NA PE2 15 +NX_Q2NL68 480 51075 6.63 0 Golgi apparatus NA PE1 19 +NX_Q2NL82 804 91810 6.98 0 Nucleoplasm;Nucleolus NA PE1 17 +NX_Q2NL98 169 18348 5.44 0 Cytoplasm NA PE1 19 +NX_Q2PPJ7 1873 210770 5.74 0 Cytoplasm;Cytosol;Cell membrane NA PE1 20 +NX_Q2PZI1 675 77319 9.13 11 Cytoplasmic vesicle;Membrane NA PE1 7 +NX_Q2Q1W2 868 93385 7.57 0 Cytoskeleton;Focal adhesion;Cell membrane;P-body NA PE1 3 +NX_Q2QD12 228 25023 5.21 0 NA NA PE2 10 +NX_Q2QGD7 858 89988 8.48 0 Nucleus;Cytoplasmic vesicle;Nucleolus NA PE1 3 +NX_Q2QL34 196 22116 9.92 4 Cytoplasmic vesicle;Peroxisome membrane NA PE1 16 +NX_Q2T9J0 566 59309 5.82 0 Cytosol;Peroxisome;Centrosome;Nucleoplasm NA PE1 10 +NX_Q2T9K0 475 52201 8.12 7 Cytosol;Membrane NA PE1 3 +NX_Q2T9L4 293 31928 4.91 0 Cytosol;Nucleoplasm NA PE1 15 +NX_Q2TAA2 248 27599 5.13 0 Nucleoplasm NA PE1 2 +NX_Q2TAA5 492 55651 8.78 2 Endoplasmic reticulum;Endoplasmic reticulum membrane Congenital disorder of glycosylation 1P PE1 13 +NX_Q2TAA8 658 76773 4.99 0 Cytosol;Nucleus;Perinuclear region NA PE1 16 +NX_Q2TAC2 916 103167 6.13 0 Microtubule organizing center;Cytoskeleton;Cytosol NA PE1 17 +NX_Q2TAC6 998 111332 8.87 0 Cytoskeleton;Cilium;Cytoskeleton;Centrosome;Cell membrane NA PE1 17 +NX_Q2TAK8 710 78636 8.83 0 Cytosol;Nucleus;Nucleus NA PE1 19 +NX_Q2TAL5 461 50196 8.8 0 NA NA PE1 17 +NX_Q2TAL6 325 35282 5.29 0 Basement membrane;Synapse NA PE1 7 +NX_Q2TAL8 776 86436 5.59 0 Nucleoplasm NA PE1 3 +NX_Q2TAM9 212 23390 11.18 0 Nucleus;Cytoplasmic vesicle NA PE1 9 +NX_Q2TAP0 167 18335 5.77 0 Golgi apparatus membrane NA PE1 10 +NX_Q2TAY7 513 57544 6.74 0 Nucleus;Cytoplasmic vesicle;Cytoplasm;Nucleus speckle NA PE1 9 +NX_Q2TAZ0 1938 212860 5.57 0 Cytoplasmic vesicle;Cytosol;Lipid droplet;Preautophagosomal structure membrane;Nucleus NA PE1 11 +NX_Q2TB10 664 75236 9.54 0 Cytosol;Nucleus;Nucleolus NA PE1 7 +NX_Q2TB18 679 77093 8.39 0 Endoplasmic reticulum NA PE1 3 +NX_Q2TB90 917 102545 6.77 0 Mitochondrion NA PE1 10 +NX_Q2TBA0 621 69257 5.15 0 Cytoplasm;I band;A band Nemaline myopathy 8 PE1 3 +NX_Q2TBC4 344 37551 5.47 0 Spindle;Microtubule organizing center NA PE2 6 +NX_Q2TBE0 894 103787 8.78 0 Nucleus speckle;Cytosol NA PE1 11 +NX_Q2TBF2 565 63817 8.99 1 Nucleoplasm;Membrane NA PE1 12 +NX_Q2TV78 715 79694 8.16 0 Secreted NA PE1 1 +NX_Q2UY09 1125 116657 6.1 0 Basement membrane NA PE1 7 +NX_Q2V2M9 1422 158613 5.7 0 Cytoskeleton;Z line NA PE1 18 +NX_Q2VIQ3 1234 140035 5.88 0 Nucleus matrix;Cytoskeleton NA PE2 5 +NX_Q2VIR3 472 51229 8.67 0 NA NA PE5 12 +NX_Q2VPA4 569 62714 6.95 0 Membrane;Secreted;Cytoplasm NA PE1 1 +NX_Q2VPB7 878 93949 5.61 0 Nucleus;Cytoplasmic vesicle;Golgi apparatus NA PE1 11 +NX_Q2VPJ9 315 34740 9.42 0 Nucleus;Cytosol NA PE2 22 +NX_Q2VPK5 515 56107 5.94 0 Cytoplasm NA PE1 16 +NX_Q2VWA4 1001 104235 6.02 0 Nucleus;Cytoplasm NA PE1 18 +NX_Q2VWP7 1150 127076 7.37 1 Cytoplasmic vesicle;Cytosol;Membrane;Cell membrane NA PE1 15 +NX_Q2VY69 593 69019 8.77 0 Nucleus NA PE1 19 +NX_Q2VYF4 491 55921 9.31 1 Nucleus;Nucleus;Mitochondrion inner membrane;Cytosol NA PE1 8 +NX_Q2WEN9 425 45873 5.94 0 Secreted Deafness, autosomal dominant, 4B PE1 19 +NX_Q2WGJ6 581 65541 8.19 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 8 +NX_Q2WGJ8 235 27046 9.88 2 Membrane NA PE1 8 +NX_Q2WGJ9 1857 209308 5.98 1 Membrane NA PE1 8 +NX_Q2WGN9 574 62367 7.35 0 NA NA PE2 22 +NX_Q2Y0W8 1093 122938 6.22 11 Cytoskeleton;Membrane NA PE1 12 +NX_Q2YD98 709 80591 5.93 0 Nucleoplasm;Chromosome UV-sensitive syndrome 3 PE1 4 +NX_Q30134 266 30004 6.66 1 Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane;Late endosome membrane NA PE1 6 +NX_Q30154 266 30056 6.45 1 Late endosome membrane;Cell membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane NA PE1 6 +NX_Q30167 266 30002 7.66 1 trans-Golgi network membrane;Endosome membrane;Lysosome membrane;Cell membrane;Late endosome membrane;Endoplasmic reticulum membrane NA PE1 6 +NX_Q30201 348 40108 6.12 1 Mitochondrion;Nucleus membrane;Cell membrane Hemochromatosis 1;Microvascular complications of diabetes 7;Variegate porphyria PE1 6 +NX_Q309B1 348 40306 5.86 0 Cytoplasm NA PE1 17 +NX_Q30KP8 78 8755 9.18 0 Secreted NA PE3 8 +NX_Q30KP9 77 8754 9.54 0 Secreted NA PE2 8 +NX_Q30KQ1 61 7213 9.06 0 Secreted NA PE2 6 +NX_Q30KQ4 102 11544 8.71 0 Secreted NA PE3 20 +NX_Q30KQ5 88 10071 8.77 0 Secreted NA PE3 20 +NX_Q30KQ6 69 8318 7.5 0 Secreted NA PE1 6 +NX_Q30KQ7 82 9640 9.1 0 Secreted NA PE2 6 +NX_Q30KQ8 113 12991 8.82 0 Secreted NA PE2 6 +NX_Q30KQ9 67 8001 9.06 0 Secreted NA PE2 6 +NX_Q30KR1 87 9886 8.91 0 Secreted NA PE5 8 +NX_Q31610 362 40400 5.67 1 Membrane NA PE1 6 +NX_Q31612 363 40435 5.84 1 Membrane NA PE1 6 +NX_Q32M45 955 111462 8.45 8 Cell membrane NA PE2 12 +NX_Q32M78 642 73956 8.6 0 Nucleus NA PE1 19 +NX_Q32M84 506 58481 9.29 0 Cytosol;Nucleolus NA PE1 10 +NX_Q32M88 737 80655 5.11 0 Cytosol NA PE1 11 +NX_Q32M92 178 20262 9.34 0 NA NA PE2 15 +NX_Q32MH5 1076 121670 8.12 0 Nucleoplasm NA PE1 15 +NX_Q32MK0 819 88393 5.76 0 Cytoplasm NA PE1 16 +NX_Q32MQ0 723 77361 8.45 0 Nucleus;Nucleolus;Cytoplasmic vesicle;Nucleus Seborrhea-like dermatitis with psoriasiform elements PE1 17 +NX_Q32MZ4 808 89253 4.59 0 Cytoplasm;Cytosol;Nucleus;Cytoplasm NA PE1 2 +NX_Q32NB8 556 62730 9.08 0 Mitochondrion;Cytoplasmic vesicle;Cell junction;Cytoskeleton NA PE1 17 +NX_Q32NC0 220 24827 10.27 0 Nucleolus;Cell membrane NA PE1 18 +NX_Q32P28 736 83394 5.05 0 Endoplasmic reticulum;Extracellular matrix;Cytoplasmic vesicle;Nucleolus Osteogenesis imperfecta 8 PE1 1 +NX_Q32P41 509 58246 8.78 0 Nucleus;Cytoplasm;Nucleolus;Mitochondrion matrix;Nucleus Combined oxidative phosphorylation deficiency 26 PE1 14 +NX_Q32P44 896 95197 6.69 0 Cytoskeleton NA PE1 11 +NX_Q32P51 320 34225 9.08 0 Nucleus;Cytoplasm NA PE1 13 +NX_Q32Q52 190 21196 8.68 0 NA NA PE2 12 +NX_Q32ZL2 321 35427 6.58 6 Nucleus;Centrosome;Cell membrane;Cell membrane NA PE2 1 +NX_Q330K2 333 38176 9.44 0 Nucleus;Cytoplasm;Mitochondrion inner membrane Mitochondrial complex I deficiency PE1 8 +NX_Q33E94 735 83368 6.38 0 Nucleus;Nucleus NA PE1 12 +NX_Q38SD2 2015 225393 6.25 0 Cytosol;Cytoplasm;Mitochondrion NA PE1 15 +NX_Q3B726 338 37432 6.53 0 Nucleus;Nucleolus;Nucleolus NA PE1 7 +NX_Q3B7I2 92 10960 4.92 0 NA NA PE3 7 +NX_Q3B7J2 385 42255 6.02 0 Cytosol;Nucleoplasm;Extracellular matrix NA PE1 16 +NX_Q3B7S5 101 11722 10.62 1 Membrane NA PE4 18 +NX_Q3B7T1 1238 138528 5.93 0 Cytosol;Nucleoplasm;Centrosome;Nucleus NA PE1 10 +NX_Q3B7T3 259 28626 7.8 1 Nucleoplasm;Centrosome;Membrane Spinocerebellar ataxia 31 PE1 16 +NX_Q3B820 660 76752 8.21 0 Cilium basal body;Cilium Retinitis pigmentosa 28 PE1 2 +NX_Q3B8N2 356 39660 9.6 0 NA NA PE1 17 +NX_Q3B8N5 592 65586 9.28 0 Nucleus NA PE2 14 +NX_Q3BBV0 1214 139343 4.72 0 Cytoplasm NA PE2 1 +NX_Q3BBV1 942 108576 4.68 0 Cytoplasm NA PE2 1 +NX_Q3BBV2 869 99215 4.6 0 Cytoplasm NA PE5 1 +NX_Q3BBW0 867 99594 4.76 0 Cytoplasm NA PE2 1 +NX_Q3C1V0 323 34465 6.27 4 Membrane NA PE2 11 +NX_Q3C1V1 193 20547 9.42 0 Cytoplasmic vesicle NA PE1 11 +NX_Q3C1V8 233 25933 6.96 0 Nucleus NA PE2 11 +NX_Q3C1V9 767 84939 7.76 0 NA NA PE5 11 +NX_Q3I5F7 207 22991 8.81 0 Cytoplasm NA PE1 14 +NX_Q3KNS1 767 86872 5.84 8 Membrane NA PE1 10 +NX_Q3KNS6 432 50142 8.21 0 Nucleus;Nucleus;Nucleus NA PE1 19 +NX_Q3KNT7 163 17679 5.47 0 NA NA PE5 7 +NX_Q3KNT9 176 19597 8.98 1 Membrane NA PE2 17 +NX_Q3KNV8 242 28115 8.54 0 Nucleoplasm;Nucleus;Nucleoplasm NA PE1 4 +NX_Q3KNW1 292 32474 9.45 0 Nucleoplasm;Nucleus NA PE2 16 +NX_Q3KNW5 377 41259 8.15 9 Membrane NA PE1 4 +NX_Q3KP22 176 20078 10.11 1 Telomere;Nucleus inner membrane NA PE1 11 +NX_Q3KP31 576 66872 9.39 0 Nucleus;Nucleus NA PE1 19 +NX_Q3KP44 614 68414 6.72 0 NA NA PE1 5 +NX_Q3KP66 663 72914 9.42 0 Nucleus;Cytoplasm NA PE1 1 +NX_Q3KPI0 293 32373 5.83 1 Membrane NA PE2 19 +NX_Q3KQU3 841 92820 10.12 0 Cytosol;Spindle;Cytoskeleton NA PE1 1 +NX_Q3KQV3 632 71577 8.36 0 Nucleoplasm;Nucleus;Nucleus NA PE1 19 +NX_Q3KQV9 507 57030 5.94 0 Cytosol;Cytoskeleton NA PE1 9 +NX_Q3KQZ1 300 32438 9.21 6 Mitochondrion;Cytoplasmic vesicle;Mitochondrion inner membrane NA PE1 17 +NX_Q3KR16 790 88960 6.63 0 Microvillus;Spindle;Spindle pole;Cleavage furrow;Cell membrane NA PE1 12 +NX_Q3KR37 738 85400 5.84 1 Nucleus;Membrane;Nucleolus;Cytoskeleton NA PE1 11 +NX_Q3KRA6 126 14609 6.42 0 Endoplasmic reticulum NA PE1 2 +NX_Q3KRA9 238 26483 8.9 0 Nucleoplasm;Focal adhesion;Cytoplasm;Nucleus NA PE1 19 +NX_Q3KRB8 267 30251 9.27 0 Cytoplasmic vesicle NA PE2 15 +NX_Q3L8U1 2897 326022 6.56 0 Cytosol;Cell membrane;Nucleus;Cytoplasm NA PE1 16 +NX_Q3LFD5 358 41394 8.36 0 NA NA PE2 22 +NX_Q3LHN0 102 11738 9.01 0 Cell membrane;Cytosol;Nucleus membrane NA PE3 21 +NX_Q3LHN1 58 6456 7.51 0 NA NA PE3 21 +NX_Q3LHN2 52 5737 8.48 0 NA NA PE1 21 +NX_Q3LI54 63 6918 8.91 0 NA NA PE3 21 +NX_Q3LI58 79 7937 8.15 0 NA NA PE2 21 +NX_Q3LI59 83 8564 8.4 0 NA NA PE3 21 +NX_Q3LI60 44 4909 7.61 0 NA NA PE3 21 +NX_Q3LI61 65 6961 8.63 0 NA NA PE3 21 +NX_Q3LI62 44 4623 9.06 0 NA NA PE3 21 +NX_Q3LI63 56 6202 8.24 0 NA NA PE3 21 +NX_Q3LI64 71 7279 8.36 0 NA NA PE1 21 +NX_Q3LI66 62 6654 6.65 0 NA NA PE1 21 +NX_Q3LI67 103 10409 7.35 0 NA NA PE3 21 +NX_Q3LI68 45 5218 8.39 0 NA NA PE3 21 +NX_Q3LI70 58 6267 8.97 0 NA NA PE1 21 +NX_Q3LI72 72 7624 8.32 0 NA NA PE1 21 +NX_Q3LI73 84 9106 8.93 0 NA NA PE3 21 +NX_Q3LI76 137 14979 8.15 0 NA NA PE1 21 +NX_Q3LI77 160 17755 9.08 0 NA NA PE1 21 +NX_Q3LI81 207 22345 5.45 0 NA NA PE2 21 +NX_Q3LI83 254 27719 8.71 0 NA NA PE1 21 +NX_Q3LIE5 342 39529 5.31 0 NA NA PE1 17 +NX_Q3LXA3 575 58947 7.12 0 Cytosol;Nucleus NA PE1 11 +NX_Q3MHD2 195 21701 7.62 0 Cytoplasm;Cytosol NA PE1 17 +NX_Q3MII6 688 76327 5.75 0 Cytoplasm;Autophagosome NA PE1 X +NX_Q3MIN7 710 78079 7.6 0 Cytosol;Nucleus NA PE1 19 +NX_Q3MIP1 535 58446 9.58 1 Membrane;Centrosome NA PE1 16 +NX_Q3MIR4 351 38941 8.06 2 Cell membrane NA PE1 14 +NX_Q3MIS6 628 72138 9.37 0 Nucleus NA PE1 19 +NX_Q3MIT2 529 60244 6.1 0 Nucleoplasm;Nucleus;Mitochondrion NA PE1 2 +NX_Q3MIV0 48 5275 6.48 0 NA NA PE3 21 +NX_Q3MIW9 517 56347 9.01 1 Membrane NA PE1 6 +NX_Q3MIX3 580 65897 9.13 1 Cytosol;Membrane;Cell membrane NA PE1 8 +NX_Q3MJ13 1102 123425 6.22 0 Cytoplasmic vesicle;Cytoplasmic vesicle Amelogenesis imperfecta, hypomaturation type, 2A3 PE1 15 +NX_Q3MJ16 856 97570 5.66 0 Cytosol;Lysosome membrane NA PE1 15 +NX_Q3MJ40 725 82951 4.93 0 NA NA PE2 17 +NX_Q3MJ62 389 44955 5.91 0 Nucleus NA PE1 6 +NX_Q3MUY2 71 8058 6.69 2 Endoplasmic reticulum membrane Hyperphosphatasia with mental retardation syndrome 6 PE1 4 +NX_Q3SX64 289 30781 10 0 NA NA PE1 19 +NX_Q3SXM0 396 44264 8.65 0 NA NA PE1 4 +NX_Q3SXM5 330 37002 8.93 0 Mitochondrion;Mitochondrion NA PE1 16 +NX_Q3SXP7 199 22573 8.95 1 Cytosol;Membrane;Cytoplasmic vesicle NA PE2 22 +NX_Q3SXR2 165 16908 8.66 0 NA NA PE2 3 +NX_Q3SXY7 679 74754 5.46 1 Dendrite;Nucleoplasm;Mitochondrion;Cytosol;Perikaryon;Endoplasmic reticulum membrane Night blindness, congenital stationary, 1F PE1 4 +NX_Q3SXY8 428 48643 6.2 0 Cilium membrane;Cilium;Cytosol;Cytoskeleton Joubert syndrome 8 PE1 3 +NX_Q3SXZ3 478 55404 9.55 0 Nucleus NA PE1 4 +NX_Q3SXZ7 439 51472 8.96 0 Cilium basal body;Cytoskeleton;Nucleoplasm;Cytoskeleton NA PE2 20 +NX_Q3SY00 556 62381 10.08 0 NA NA PE1 11 +NX_Q3SY05 128 14562 9.74 0 NA NA PE5 1 +NX_Q3SY17 297 33721 9.69 6 Mitochondrion inner membrane NA PE2 18 +NX_Q3SY46 172 19236 8.78 0 NA NA PE1 21 +NX_Q3SY52 487 54786 9.1 0 Nucleus;Cytoskeleton NA PE1 19 +NX_Q3SY56 376 39840 6.81 0 Nucleoplasm;Nucleus;Spindle;Centrosome NA PE1 17 +NX_Q3SY69 923 101746 6.13 0 Mitochondrion;Mitochondrion NA PE1 12 +NX_Q3SY77 523 59547 8.51 1 Membrane;Nucleus;Cytosol NA PE1 5 +NX_Q3SY84 523 57292 6.27 0 Cytoskeleton Hypotrichosis 13 PE1 12 +NX_Q3SY89 546 59760 9.83 0 Nucleus NA PE2 18 +NX_Q3SYA9 428 45448 9.17 0 NA NA PE5 22 +NX_Q3SYB3 417 45787 9.76 0 Nucleus NA PE1 9 +NX_Q3SYC2 334 38196 9.47 3 Endoplasmic reticulum membrane NA PE1 11 +NX_Q3SYF9 63 6644 8.49 0 NA NA PE1 21 +NX_Q3SYG4 887 99280 5.35 0 Centriolar satellite;Cytoplasm;Cilium membrane;Centrosome Bardet-Biedl syndrome 9 PE1 7 +NX_Q3T8J9 2241 248620 4.94 0 Nucleoplasm;Nucleus;Nucleus NA PE1 1 +NX_Q3T906 1256 143622 6.74 2 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus membrane Mucolipidosis type III complementation group A;Mucolipidosis type II PE1 12 +NX_Q3V5L5 792 89535 8.68 1 Spindle;Nucleoplasm;Golgi apparatus membrane NA PE1 17 +NX_Q3V6T2 1871 216042 5.9 0 Lamellipodium;Cilium basal body;Centriole;Membrane;Cytoplasmic vesicle;Cell membrane;Cytosol PEHO-like syndrome PE1 2 +NX_Q3Y452 100 10472 6.81 0 Cytoplasm NA PE1 6 +NX_Q3YBM2 270 29056 8.81 4 Cell membrane;Nucleus membrane;Nucleoplasm;Golgi apparatus NA PE1 7 +NX_Q3YBR2 411 44946 8.73 0 Nucleus;Nucleus NA PE1 11 +NX_Q3YEC7 729 79549 5.11 0 Centrosome;Cytoplasm;Nucleus;Cytosol;Nucleus NA PE1 9 +NX_Q3ZAQ7 101 11354 6.56 2 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane;COPII-coated vesicle membrane Myopathy, X-linked, with excessive autophagy PE1 X +NX_Q3ZCM7 444 49776 4.79 0 Cytoskeleton;Spindle Oocyte maturation defect 2 PE1 10 +NX_Q3ZCN5 2332 262091 5.01 0 Cytosol;Secreted Deafness, autosomal recessive, 84B PE1 12 +NX_Q3ZCQ2 193 21682 4.88 0 Nucleoplasm;Cytosol;Cytosol NA PE1 5 +NX_Q3ZCQ3 159 16967 8.88 1 Membrane;Cytoskeleton NA PE1 15 +NX_Q3ZCQ8 353 39646 8.55 1 Mitochondrion inner membrane;Nucleus speckle;Mitochondrion;Nucleoplasm NA PE1 19 +NX_Q3ZCT1 412 47222 9.28 0 Nucleoplasm;Cytosol;Nucleus NA PE1 19 +NX_Q3ZCT8 623 71096 5.65 0 NA NA PE2 3 +NX_Q3ZCU0 254 29382 9.76 0 Endoplasmic reticulum;Nucleoplasm;Centrosome NA PE5 11 +NX_Q3ZCV2 418 47609 9.84 0 Mitochondrion NA PE1 1 +NX_Q3ZCW2 172 18986 5.12 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 2 +NX_Q3ZCX4 644 74369 8.58 0 Nucleus NA PE1 19 +NX_Q3ZLR7 823 89431 9 0 NA NA PE2 X +NX_Q400G9 498 54924 5.64 0 NA NA PE1 7 +NX_Q401N2 412 45816 8.45 4 Cell membrane NA PE1 17 +NX_Q460N3 678 74576 9.02 0 Nucleus;Mitochondrion NA PE1 3 +NX_Q460N5 1801 202800 6.81 0 Cytoplasm;Nucleus;Cytosol NA PE1 3 +NX_Q494R0 122 13218 9.41 0 NA NA PE5 16 +NX_Q494R4 210 23858 9.34 0 Cytosol NA PE1 11 +NX_Q494U1 663 71790 8.8 0 Cytoskeleton;Nucleus speckle;Cell membrane NA PE1 1 +NX_Q494V2 611 71117 6.65 0 Cilium axoneme NA PE1 3 +NX_Q494W8 412 46218 6.11 5 Membrane NA PE2 15 +NX_Q494X1 144 16640 8.93 0 NA NA PE1 5 +NX_Q494X3 552 65425 9.32 0 Nucleus;Nucleus;Nucleolus NA PE1 19 +NX_Q495A1 244 26319 5.5 1 Cell membrane NA PE1 3 +NX_Q495B1 522 57550 6.22 0 Nucleoplasm NA PE2 15 +NX_Q495C1 297 33365 9.04 0 Nucleus;Chromosome NA PE2 4 +NX_Q495D7 138 15996 9.11 0 NA NA PE2 12 +NX_Q495M3 483 53216 8.4 11 Cell membrane;Cytoplasm Hyperglycinuria;Iminoglycinuria PE1 5 +NX_Q495M9 461 51489 6.48 0 Cell membrane;Cytoskeleton;Cytosol Usher syndrome 1G PE1 17 +NX_Q495N2 470 51735 5.91 11 Membrane NA PE2 5 +NX_Q495T6 779 89367 5.64 1 Membrane;Secreted NA PE1 1 +NX_Q495W5 492 55816 5.59 1 Golgi stack membrane;Nucleus membrane;Golgi apparatus NA PE1 10 +NX_Q495X7 471 55114 8.68 0 NA NA PE2 4 +NX_Q495Y7 208 25253 8.71 0 NA NA PE5 7 +NX_Q495Y8 402 48300 9.78 0 NA NA PE1 7 +NX_Q495Z4 193 20099 11.93 0 NA NA PE5 17 +NX_Q496A3 300 33705 7.08 0 Nucleoplasm NA PE1 6 +NX_Q496F6 205 22918 8.22 1 Cell membrane NA PE1 17 +NX_Q496H8 165 17786 8.35 0 Cell membrane NA PE1 16 +NX_Q496J9 727 82342 4.92 12 Nucleoplasm;Cytoplasmic vesicle;Synaptic vesicle membrane NA PE1 5 +NX_Q496M5 336 36329 5.99 0 Cytoplasm;Nucleolus NA PE1 19 +NX_Q496Y0 759 84490 7 0 Nucleus;Cell membrane NA PE1 X +NX_Q499Y3 187 20452 7.62 0 NA NA PE2 10 +NX_Q499Z3 407 45603 5.61 0 Cytosol NA PE1 1 +NX_Q499Z4 452 50224 10.01 0 Nucleus;Nucleoplasm NA PE1 1 +NX_Q49A17 601 69788 7.11 1 Golgi apparatus membrane NA PE2 4 +NX_Q49A26 553 60556 9.26 0 Nucleus speckle;Nucleoplasm;Nucleus NA PE1 16 +NX_Q49A33 203 23384 9.13 0 Nucleus NA PE5 4 +NX_Q49A88 953 106302 8.65 0 Centrosome;Centriolar satellite NA PE1 3 +NX_Q49A92 452 50489 4.95 0 Nucleus;Nucleolus;Golgi apparatus NA PE2 8 +NX_Q49AA0 526 61181 8.78 0 Nucleus;Nucleus NA PE1 1 +NX_Q49AG3 693 78911 8.57 0 Golgi apparatus;Nucleolus;Nucleus NA PE1 11 +NX_Q49AH0 187 20964 7.5 0 Secreted NA PE1 10 +NX_Q49AJ0 1406 155770 5.53 0 Nucleoplasm;Nucleus membrane NA PE1 8 +NX_Q49AM1 385 44414 9.15 0 Mitochondrion;Mitochondrion nucleoid NA PE1 12 +NX_Q49AM3 519 57105 8.52 0 Nucleoplasm;Cytosol NA PE1 2 +NX_Q49AN0 593 66947 8.66 0 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA PE1 11 +NX_Q49AR2 442 49967 4.65 0 Nucleus membrane NA PE1 5 +NX_Q49AS3 106 12596 10.02 0 NA NA PE5 9 +NX_Q49B96 90 10394 8.95 0 Cytosol;Cytosol NA PE1 7 +NX_Q49MG5 647 74234 7.59 0 Cytoplasm;Cytoskeleton;Spindle NA PE1 4 +NX_Q49MI3 558 62622 8.57 0 Nucleoplasm;Endoplasmic reticulum;trans-Golgi network;Cytosol;Nucleolus;Cytoplasm Retinitis pigmentosa 26 PE1 2 +NX_Q49SQ1 333 38232 9.57 7 Cell membrane NA PE2 14 +NX_Q4AC94 2353 260389 6.7 0 Microtubule organizing center;Nucleus;Cilium basal body;Centriole Orofaciodigital syndrome 14 PE1 11 +NX_Q4AC99 568 65249 6.05 0 NA NA PE1 11 +NX_Q4ADV7 1423 159301 5.95 1 Cytosol;Membrane NA PE1 9 +NX_Q4AE62 458 52597 6.83 0 Cytosol NA PE1 2 +NX_Q4FZB7 885 99187 8.98 0 Nucleus;Nucleus;Chromosome NA PE1 11 +NX_Q4G0A6 757 84372 6.47 0 Cytosol;Cytoplasmic vesicle NA PE1 7 +NX_Q4G0F5 336 39155 6.85 0 Cytoplasm;Membrane;Early endosome;Late endosome NA PE1 11 +NX_Q4G0G2 97 11005 6.8 0 NA NA PE5 3 +NX_Q4G0G5 96 10563 4.57 0 Secreted NA PE3 19 +NX_Q4G0I0 132 15004 6.51 1 Membrane NA PE1 16 +NX_Q4G0J3 582 66899 9.57 0 Cytosol;Nucleoplasm;Nucleoplasm Alazami syndrome PE1 4 +NX_Q4G0M1 354 37279 9.88 0 Microtubule organizing center;Endoplasmic reticulum;Secreted NA PE2 2 +NX_Q4G0N0 100 11568 5.61 1 Golgi stack membrane NA PE1 9 +NX_Q4G0N4 442 49433 8.46 0 Mitochondrion 2,4-dienoyl-CoA reductase deficiency PE1 5 +NX_Q4G0N7 80 8717 9.02 0 Nucleolus;Golgi apparatus;Nucleus NA PE2 6 +NX_Q4G0N8 1177 135206 6.72 16 Flagellum membrane NA PE1 3 +NX_Q4G0P3 5121 575892 5.73 0 Cilium;Cell membrane;Cytosol Ciliary dyskinesia, primary, 5 PE1 16 +NX_Q4G0S4 372 42632 9.31 0 Membrane;Cytoplasmic vesicle NA PE1 2 +NX_Q4G0S7 254 29979 9.11 0 Nucleoplasm;Cytosol NA PE1 5 +NX_Q4G0T1 1027 108611 5.76 1 Membrane NA PE1 10 +NX_Q4G0U5 840 96891 8.79 0 Cilium axoneme;Cytoplasm NA PE1 2 +NX_Q4G0W2 176 18324 8.61 0 Nucleus speckle;Cytosol NA PE1 2 +NX_Q4G0X4 260 29643 6.09 0 Cytosol NA PE1 11 +NX_Q4G0X9 1142 130113 5.21 0 Cytoplasm;Cilium;Cytoskeleton Ciliary dyskinesia, primary, 15 PE1 17 +NX_Q4G0Z9 681 76219 6.79 0 Cytoskeleton NA PE1 8 +NX_Q4G112 596 65278 6.78 0 Nucleus NA PE1 17 +NX_Q4G148 440 50567 8.92 1 Membrane NA PE1 12 +NX_Q4G163 708 78402 8.4 0 NA NA PE1 8 +NX_Q4G176 576 64130 8.64 0 Mitochondrion Combined malonic and methylmalonic aciduria PE1 16 +NX_Q4G1C9 344 40179 4.88 1 Membrane NA PE1 12 +NX_Q4J6C6 727 83927 5.96 0 Cytoplasm;Cytosol Myasthenic syndrome, congenital, 22;Hypotonia-cystinuria syndrome PE1 2 +NX_Q4JDL3 420 48423 5.54 0 Nucleus;Microtubule organizing center;Cytoplasm;Centrosome NA PE1 10 +NX_Q4KMG0 1287 139147 6.04 1 Cell membrane Holoprosencephaly 11 PE1 11 +NX_Q4KMG9 183 20002 5.39 1 Focal adhesion;Membrane NA PE2 12 +NX_Q4KMP7 808 87199 9.27 0 Cytoplasm NA PE1 16 +NX_Q4KMQ1 711 75556 6.82 0 Cell membrane;Stereocilium Deafness, autosomal recessive, 79 PE1 9 +NX_Q4KMQ2 910 106165 7.92 8 Cell membrane;Cell membrane;Cytosol Scott syndrome PE1 12 +NX_Q4KMX7 169 18795 5.78 0 NA NA PE2 17 +NX_Q4KMZ1 466 53032 8.22 0 Cytoplasmic vesicle NA PE1 1 +NX_Q4KMZ8 207 23552 5.21 3 Cell membrane NA PE2 1 +NX_Q4KN68 170 19514 6.23 0 NA NA PE2 20 +NX_Q4KWH8 1693 189223 7.87 0 Membrane;Cytoplasm;Cytoplasmic vesicle NA PE1 3 +NX_Q4L180 1135 130382 6.17 0 Cytoplasm;Nucleus;Membrane;Cell membrane NA PE1 3 +NX_Q4L235 1098 122597 6.9 0 NA NA PE1 4 +NX_Q4LDE5 3571 390170 5.32 0 Secreted;Cytoplasm;Membrane NA PE1 9 +NX_Q4LDG9 190 21533 5.87 0 Nucleus;Microtubule organizing center;Cilium axoneme Ciliary dyskinesia, primary, 16 PE1 14 +NX_Q4LDR2 81 8933 4.56 1 Membrane NA PE1 5 +NX_Q4LE39 1312 147809 5.04 0 Nucleoplasm;Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 1 +NX_Q4LEZ3 155 17575 5.81 0 Lipid droplet NA PE1 8 +NX_Q4QY38 66 7552 6.52 0 Secreted NA PE2 8 +NX_Q4U2R6 128 15095 11.27 0 Mitochondrion;Mitochondrion NA PE1 12 +NX_Q4U2R8 563 61816 9.05 12 Cell membrane NA PE1 11 +NX_Q4UJ75 823 94149 8.11 0 NA NA PE4 9 +NX_Q4V321 117 12873 4.26 0 NA NA PE3 X +NX_Q4V326 116 12763 4.32 0 NA NA PE3 X +NX_Q4V328 841 95990 5.08 0 Synapse;Early endosome membrane;Recycling endosome membrane;Axon;Dendrite;Cytosol;Cytoplasmic vesicle NA PE1 X +NX_Q4V339 395 43964 4.76 0 NA NA PE3 9 +NX_Q4V348 819 94331 8.9 0 Nucleus NA PE2 9 +NX_Q4V9L6 283 29203 4.5 1 Cell membrane;Cytoplasm;Endoplasmic reticulum membrane NA PE1 12 +NX_Q4VC05 210 22810 5.01 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 12 +NX_Q4VC12 460 51289 6.49 0 Cytosol;Cytoplasmic vesicle NA PE1 10 +NX_Q4VC31 144 16620 7.67 0 Nucleolus;Mitochondrion NA PE1 3 +NX_Q4VC39 106 11405 8.55 2 Membrane NA PE5 15 +NX_Q4VC44 716 80108 8.68 0 Cytosol;Nucleus;Nucleus;Nucleoplasm NA PE1 16 +NX_Q4VCS5 1084 118085 7.27 0 Tight junction NA PE1 X +NX_Q4VNC0 1218 137327 8.19 10 Membrane NA PE2 3 +NX_Q4VNC1 1196 133987 6.27 11 Membrane;Nucleoplasm NA PE1 3 +NX_Q4VX62 202 22766 8.57 0 NA NA PE4 6 +NX_Q4VX76 610 68560 9.41 0 Nucleolus;Endomembrane system;Cytoplasmic vesicle NA PE1 6 +NX_Q4VXA5 237 27160 8.58 2 Cytosol;Membrane;Mitochondrion NA PE2 6 +NX_Q4VXF1 159 18188 9.41 1 Membrane NA PE5 9 +NX_Q4VXU2 614 68392 9.06 0 Cytosol;Nucleus NA PE1 20 +NX_Q4W4Y0 310 36306 6.18 0 Cytosol NA PE2 14 +NX_Q4W5G0 525 59623 9.12 0 Nucleus;Nucleus NA PE1 4 +NX_Q4W5N1 156 17479 9.43 0 NA NA PE2 4 +NX_Q4W5P6 130 14221 10.29 0 Secreted NA PE2 4 +NX_Q4ZG55 1949 216467 6.49 1 Cytosol;Mitochondrion;Membrane NA PE1 2 +NX_Q4ZHG4 1894 205558 9.35 0 Nucleus speckle;Secreted NA PE1 6 +NX_Q4ZIN3 620 67889 5.14 4 Nucleus speckle;Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 19 +NX_Q4ZJI4 515 56054 8.27 13 Flagellum membrane NA PE1 4 +NX_Q502W6 1294 145748 7.01 0 Cytoplasm;Nucleus Spinocerebellar ataxia, autosomal recessive, 22 PE1 2 +NX_Q502W7 563 65315 8.81 0 Centrosome;Nucleus;Nucleolus NA PE1 12 +NX_Q502X0 79 8939 5.4 0 Nucleus;Acrosome;Nucleoplasm NA PE1 2 +NX_Q504Q3 1202 135368 5.64 0 Cytoplasm;Nucleus;P-body NA PE1 12 +NX_Q504T8 468 49213 9.67 0 Nucleolus;Cytosol;Nucleoplasm;Nucleus NA PE1 19 +NX_Q504U0 113 11899 4.24 0 Cytoplasm;Nucleoplasm NA PE1 4 +NX_Q504Y0 691 76666 5.85 8 Membrane NA PE1 10 +NX_Q504Y2 493 54132 8.76 0 Golgi apparatus;Secreted NA PE1 2 +NX_Q504Y3 356 41376 5.56 0 Nucleus speckle NA PE1 3 +NX_Q50LG9 513 55257 9.24 1 Membrane;Cytoplasmic vesicle NA PE2 8 +NX_Q52LA3 116 13001 4.89 0 Nucleus speckle NA PE1 14 +NX_Q52LC2 224 25310 9.6 1 Membrane;Nucleolus;Cytosol NA PE2 5 +NX_Q52LD8 501 55922 5.56 0 Cell membrane NA PE1 2 +NX_Q52LG2 175 18727 8.72 0 NA NA PE1 21 +NX_Q52LJ0 330 37191 5.96 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA PE1 15 +NX_Q52LR7 807 91095 8.95 0 Nucleus speckle;Nucleus NA PE1 2 +NX_Q52LW3 1261 142064 6.32 0 Cytosol;Nucleus;Cell membrane;Centrosome NA PE1 1 +NX_Q52M58 125 13861 9.23 0 NA NA PE2 14 +NX_Q52M75 96 10857 9.96 0 NA NA PE4 5 +NX_Q52M93 769 88066 9.26 0 Nucleus NA PE1 19 +NX_Q52MB2 194 20484 4.04 0 Cytoplasm;Mitochondrion;Cytosol NA PE1 12 +NX_Q52WX2 424 46252 9.28 0 Cytoplasm NA PE1 16 +NX_Q537H7 98 11356 10.08 0 NA NA PE1 1 +NX_Q538Z0 58 6437 9.7 0 Lipid droplet NA PE2 7 +NX_Q53EL6 469 51735 5.07 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 10 +NX_Q53EL9 994 107425 5.16 1 Cytoskeleton;Cell membrane NA PE1 17 +NX_Q53EP0 1204 132888 5.64 1 Endoplasmic reticulum;Membrane NA PE1 3 +NX_Q53EQ6 642 69222 8.68 0 Nucleus NA PE1 8 +NX_Q53ET0 693 73302 6.6 0 Cytoplasm;Nucleoplasm;Nucleus NA PE1 1 +NX_Q53EU6 434 48705 9.05 3 Cell membrane;Endoplasmic reticulum membrane;Cytosol NA PE1 4 +NX_Q53EV4 343 39761 4.57 0 Nucleolus NA PE1 12 +NX_Q53EZ4 464 54178 6.55 0 Cell membrane;Cleavage furrow;Midbody ring;Centriole;Cytoplasm;Microtubule organizing center;Centrosome Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly PE1 10 +NX_Q53F19 620 70593 5.55 0 Cytoplasm;Nucleus speckle;Nucleus NA PE1 17 +NX_Q53F39 396 45141 6.71 2 Nucleoplasm;Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment membrane;cis-Golgi network membrane NA PE1 18 +NX_Q53FA7 332 35536 6.66 0 Cytoplasmic vesicle NA PE1 2 +NX_Q53FD0 456 51658 9.58 0 Cytoplasm;Mitochondrion;Nucleus speckle NA PE1 14 +NX_Q53FE4 359 39644 9.4 0 NA NA PE1 4 +NX_Q53FP2 167 18440 10.09 4 Peroxisome membrane;Cytoplasmic vesicle NA PE1 X +NX_Q53FT3 197 21628 5.27 0 Cytosol;Nucleus Leukodystrophy, hypomyelinating, 13 PE1 11 +NX_Q53FV1 153 17363 9.64 2 Endoplasmic reticulum membrane NA PE1 12 +NX_Q53FZ2 586 66153 9.16 0 Mitochondrion matrix NA PE1 16 +NX_Q53G44 452 51322 6.33 0 Cytoplasm;Nucleoplasm NA PE1 1 +NX_Q53G59 568 63277 5.26 0 Cytoplasmic vesicle;Microtubule organizing center;COPII-coated vesicle NA PE1 1 +NX_Q53GA4 152 17092 9.3 0 Cytoplasm;Membrane;Nucleolus NA PE1 11 +NX_Q53GD3 710 79254 8.91 10 Apical cell membrane;Membrane Deafness, autosomal dominant, 72 PE1 6 +NX_Q53GG5 364 39232 6.42 0 Cytosol;Z line NA PE1 4 +NX_Q53GI3 561 64256 8.14 0 Cytosol;Nucleoplasm;Nucleus NA PE1 7 +NX_Q53GL0 409 46237 8.93 0 Mitochondrion;Cell membrane;Nucleus;Cytoplasm NA PE1 1 +NX_Q53GL7 1025 109998 4.9 0 Nucleolus;Cytosol;Nucleolus;Cytoplasm NA PE1 8 +NX_Q53GQ0 312 34324 9.34 3 Endoplasmic reticulum membrane NA PE1 11 +NX_Q53GS7 698 79836 7.06 0 Nucleus;Nucleus membrane;Nucleolus;Nuclear pore complex;Cytoplasm Lethal arthrogryposis with anterior horn cell disease;Lethal congenital contracture syndrome 1 PE1 9 +NX_Q53GS9 565 65381 9.02 0 Nucleus;Nucleoplasm NA PE1 2 +NX_Q53GT1 634 71667 5.28 0 Spindle;Cytoplasm;Centrosome NA PE1 22 +NX_Q53H12 422 47137 8.3 0 Mitochondrion;Mitochondrion inner membrane;Mitochondrion intermembrane space;Cytoplasmic vesicle Cataract 38;Mitochondrial DNA depletion syndrome 10 PE1 7 +NX_Q53H47 684 78034 6.75 0 Nucleolus;Nucleus;Chromosome NA PE1 3 +NX_Q53H54 448 50236 8.21 0 Mitochondrion;Nucleoplasm NA PE1 8 +NX_Q53H64 154 17042 9.65 0 NA NA PE5 17 +NX_Q53H76 456 49715 7.11 0 Nucleus speckle;Secreted NA PE1 3 +NX_Q53H80 203 22496 8.96 0 Nucleoplasm;Nucleus NA PE1 6 +NX_Q53H82 288 32806 6.32 0 Cytosol;Golgi apparatus;Nucleus;Mitochondrion matrix NA PE1 8 +NX_Q53H96 274 28663 7.66 0 Cytoplasm;Nucleoplasm;Cytosol NA PE1 8 +NX_Q53HC0 331 36961 8.96 0 Centriole;Centrosome;Nucleoplasm NA PE1 12 +NX_Q53HC5 615 68139 6.04 0 NA NA PE1 19 +NX_Q53HC9 387 43603 4.87 0 Nucleolus;Cytoskeleton;Nucleus NA PE1 2 +NX_Q53HI1 259 30373 9.5 5 Endoplasmic reticulum;Nucleus inner membrane;Golgi apparatus membrane NA PE1 2 +NX_Q53HL2 280 31323 9.88 0 Centromere;Spindle;Cytoplasm;Nucleolus;Cytoskeleton;Nucleolus NA PE1 1 +NX_Q53HV7 270 29862 6.18 0 Centrosome;Cytoplasmic vesicle;Nucleus NA PE1 12 +NX_Q53LP3 525 55672 6.55 0 Cytosol NA PE1 2 +NX_Q53QV2 105 12217 4.33 0 Cytoplasm;Cytoplasmic vesicle;Nucleus;Cytoplasm NA PE1 2 +NX_Q53QW1 395 41589 4.97 0 Cytoplasm NA PE1 2 +NX_Q53QZ3 475 54544 9.42 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus;Membrane NA PE1 2 +NX_Q53R12 229 25075 6.4 4 Focal adhesion;Cell membrane;Membrane;Endoplasmic reticulum membrane Specific language impairment 5 PE1 2 +NX_Q53R41 847 97411 7.8 0 Mitochondrion;Nucleoplasm NA PE1 2 +NX_Q53RD9 439 47376 7.88 0 Extracellular matrix;Cell membrane;Cell junction NA PE1 2 +NX_Q53RE8 183 19651 6.39 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 2 +NX_Q53RT3 343 36991 5.28 1 Membrane NA PE1 2 +NX_Q53RY4 240 25627 8.12 4 Nucleus;Cytosol;Membrane NA PE1 2 +NX_Q53S33 107 12114 9.66 0 Mitochondrion Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia PE1 2 +NX_Q53S58 311 33760 9.66 3 Nucleus;Nucleolus;Membrane NA PE1 2 +NX_Q53S99 150 16373 6.18 0 Endoplasmic reticulum NA PE2 2 +NX_Q53SF7 1204 131787 6.22 0 Cytosol;Cell membrane;Nucleus NA PE1 2 +NX_Q53SZ7 412 44690 10.39 0 NA NA PE1 2 +NX_Q53T59 392 42780 4.89 0 Nucleolus;Cytosol NA PE1 2 +NX_Q53T94 588 68832 8.27 0 Nucleolus;Nucleus;Nucleolus NA PE1 2 +NX_Q53TN4 286 31641 8.89 6 Cytosol;Golgi apparatus;Membrane NA PE1 2 +NX_Q53TQ3 878 98174 8.48 0 Nucleus NA PE1 2 +NX_Q53TS8 623 71159 6.55 0 NA NA PE1 2 +NX_Q562E7 1941 211697 5.37 0 Early endosome membrane;Late endosome membrane;Lysosome membrane;Autophagosome membrane;Mitochondrion;Cytosol;Nucleoplasm Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 PE1 17 +NX_Q562F6 1265 144739 8.09 0 Nucleus;Nucleus;Centromere;Kinetochore;Nucleoplasm NA PE1 2 +NX_Q562R1 376 42003 5.39 0 Cytoskeleton NA PE1 5 +NX_Q567U6 631 73198 8.24 0 Cell membrane;Cytoplasmic vesicle;Early endosome NA PE1 2 +NX_Q567V2 206 23180 9.41 3 Membrane;Mitochondrion inner membrane;Cytosol;Cell membrane NA PE1 19 +NX_Q569G3 176 19206 10.49 0 NA NA PE1 5 +NX_Q569H4 304 32812 9.09 0 Nucleus;Midbody;Cytosol NA PE1 5 +NX_Q569K4 471 50407 9.92 0 Nucleolus;Nucleus NA PE1 2 +NX_Q569K6 752 83941 6.76 0 NA NA PE1 22 +NX_Q56A73 249 28660 7.13 0 Cytosol;Nucleolus NA PE1 X +NX_Q56NI9 601 68307 9.46 0 Nucleus;Chromosome;Golgi apparatus;Nucleus SC phocomelia syndrome;Roberts syndrome PE1 8 +NX_Q56P03 285 32762 5 0 Cytosol;Nucleus;Golgi apparatus;Cytoplasm;Nucleus NA PE1 14 +NX_Q56P42 97 10795 5.21 0 Nucleus;Cytoplasm NA PE1 3 +NX_Q56UN5 1328 150537 6.61 0 Cytosol NA PE1 2 +NX_Q56UQ5 140 15757 5.81 0 NA NA PE2 X +NX_Q56VL3 154 16954 9.24 0 Endosome;Mitochondrion NA PE1 4 +NX_Q580R0 203 21517 5.13 0 Cytoplasm;Nucleolus NA PE2 2 +NX_Q587I9 215 21790 9.96 4 Membrane NA PE1 2 +NX_Q587J7 1177 132578 6.3 0 NA NA PE1 19 +NX_Q587J8 217 24306 9.47 0 NA Hydatidiform mole, recurrent, 2 PE1 6 +NX_Q58A44 107 10968 10.45 0 Cytoplasm NA PE1 13 +NX_Q58A45 887 95613 8.8 0 P-body NA PE1 13 +NX_Q58DX5 795 88682 5.78 1 Membrane NA PE1 3 +NX_Q58EX2 2172 239396 6.62 1 Nucleoplasm;Cell membrane;Synapse NA PE1 17 +NX_Q58EX7 1191 130803 5.43 0 Cell junction NA PE1 16 +NX_Q58F21 947 107954 9.05 0 Nucleus Spermatogenic failure 21 PE1 1 +NX_Q58FF3 399 45859 5.14 0 NA NA PE5 15 +NX_Q58FF6 505 58264 4.65 0 Cytoplasm NA PE5 15 +NX_Q58FF7 597 68325 4.71 0 Cytoplasm NA PE5 4 +NX_Q58FF8 381 44349 4.79 0 Cytoplasm NA PE1 4 +NX_Q58FG0 334 38738 6.15 0 Cytoplasm NA PE1 3 +NX_Q58FG1 418 47712 5.07 0 Cytoplasm NA PE5 4 +NX_Q58G82 188 21436 9.56 0 NA NA PE5 4 +NX_Q58HT5 328 37759 9.06 2 Endoplasmic reticulum membrane NA PE1 X +NX_Q58WW2 860 96292 5.14 0 Focal adhesion;Nucleus;Nucleus NA PE1 1 +NX_Q59EK9 446 49747 5.19 0 Cytoplasmic vesicle NA PE1 17 +NX_Q59GN2 51 6323 12.32 0 NA NA PE5 3 +NX_Q59H18 835 92851 6.27 0 Nucleus;Cytoplasm Cardiac conduction disease with or without dilated cardiomyopathy PE1 1 +NX_Q5BIV9 151 14522 11.36 0 Cell membrane NA PE2 10 +NX_Q5BJD5 291 32513 9.6 6 Peroxisome;Membrane NA PE1 11 +NX_Q5BJE1 867 102011 6.34 0 Nucleoplasm;Cytosol NA PE1 18 +NX_Q5BJF2 176 20848 9.42 4 Cytosol;Nucleus membrane;Nucleus membrane;Rough endoplasmic reticulum membrane;Cell membrane NA PE1 17 +NX_Q5BJF6 829 95401 7.53 0 Spindle pole;Centriole;Centrosome;Centrosome;Cilium NA PE1 9 +NX_Q5BJH2 165 18822 6.27 4 Membrane NA PE1 4 +NX_Q5BJH7 314 34435 9.21 5 Membrane;Golgi apparatus;Cytoplasmic vesicle NA PE1 19 +NX_Q5BKT4 473 55606 9.4 12 Endoplasmic reticulum membrane NA PE2 12 +NX_Q5BKU9 147 15855 8.57 0 Cytosol;Cytoplasmic vesicle NA PE1 17 +NX_Q5BKX5 351 37779 7.13 0 NA NA PE1 19 +NX_Q5BKX6 768 83878 5.33 12 Cell membrane;Membrane NA PE1 8 +NX_Q5BKX8 364 41899 8.29 0 Cell membrane;Caveola;Sarcolemma;Cytosol;Cytoplasm;Sarcomere NA PE1 9 +NX_Q5BKY1 277 31642 8.79 0 Nucleus NA PE1 12 +NX_Q5BKY6 102 10947 7.82 0 NA NA PE1 22 +NX_Q5BKY9 247 28385 10.02 0 Nucleus NA PE1 7 +NX_Q5BKZ1 582 65654 5.08 0 Nucleoplasm;Nucleus matrix;Golgi apparatus;Cytoplasmic vesicle NA PE1 1 +NX_Q5BLP8 95 10170 8.69 0 Secreted;Cytosol NA PE1 4 +NX_Q5BN46 136 15260 9.06 0 Cytosol;Nucleoplasm NA PE1 9 +NX_Q5BVD1 217 24295 4.02 1 Endoplasmic reticulum membrane NA PE1 3 +NX_Q5C9Z4 860 96257 8.28 0 Nucleolus;Nucleolus NA PE1 7 +NX_Q5CZ79 823 93909 8.55 0 NA NA PE2 2 +NX_Q5CZA5 627 71143 7.83 0 Nucleus NA PE1 19 +NX_Q5CZC0 6907 780607 6.27 0 Mitochondrion;Cytoskeleton NA PE1 2 +NX_Q5D0E6 543 59363 7.07 0 Nucleus;Cytosol;Nucleoplasm NA PE1 3 +NX_Q5D1E8 599 65699 6.5 0 Nucleoplasm;Nucleus;Cytoplasmic granule;Cytoplasm;P-body;Cytosol;Rough endoplasmic reticulum membrane NA PE1 1 +NX_Q5D862 2391 248073 8.45 0 Cytoplasm;Cytoplasmic granule NA PE1 1 +NX_Q5DID0 1318 144294 5.75 1 Cell membrane;Cytoplasm NA PE2 21 +NX_Q5DJT8 189 21363 9.67 0 NA NA PE2 X +NX_Q5DT21 86 9756 9.17 0 Secreted NA PE1 5 +NX_Q5DX21 431 46120 6.63 1 Cell junction;Nucleus;Cytosol;Cell membrane NA PE1 3 +NX_Q5EB52 335 38830 9.75 3 Golgi apparatus;Cytosol;Endoplasmic reticulum membrane NA PE1 7 +NX_Q5EBL2 1059 110887 8.69 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q5EBL4 403 47108 5.13 0 Cytosol;Nucleoplasm;Cell membrane;Cilium;Cytosol;Centrosome NA PE1 12 +NX_Q5EBL8 140 16131 6.65 0 Nucleus;Secreted;Cytoplasm;Cytoplasm NA PE1 X +NX_Q5EBM0 449 49448 6.57 0 Mitochondrion;Mitochondrion NA PE1 2 +NX_Q5EBM4 170 19729 9.47 0 Nucleus NA PE5 19 +NX_Q5EBN2 209 24047 8.83 0 Nucleolus;Endoplasmic reticulum NA PE2 4 +NX_Q5EE01 88 10061 11.29 0 Nucleoplasm;Nucleus;Centromere;Kinetochore;Nucleus matrix;Nucleolus NA PE1 6 +NX_Q5EG05 197 22625 8.72 0 Mitochondrion NA PE1 11 +NX_Q5F1R6 531 62028 5.34 0 Cytoplasmic vesicle;Nucleus;Cytoplasm;Nucleolus Bone marrow failure syndrome 3 PE1 5 +NX_Q5FBB7 561 64190 9.27 0 Nucleus;Centrosome;Centromere;Kinetochore;Spindle pole Chronic atrial and intestinal dysrhythmia PE1 3 +NX_Q5FVE4 666 74354 8.67 0 Membrane;Cytoplasm;Cytosol NA PE1 19 +NX_Q5FWE3 981 102197 7.7 7 Cytosol;Nucleus;Cell membrane;Membrane NA PE1 3 +NX_Q5FWF4 1079 123248 8.74 0 Nucleus;Chromosome;Nucleus NA PE1 2 +NX_Q5FWF5 840 94983 9.27 0 Chromosome;Nucleus NA PE1 18 +NX_Q5FWF6 425 49984 9.3 0 Nucleoplasm;Nucleus NA PE1 7 +NX_Q5FWF7 155 18241 6.9 0 Nucleus NA PE1 2 +NX_Q5FYA8 562 63525 8.48 2 Membrane NA PE2 X +NX_Q5FYB0 599 67235 9.15 0 Nucleolus;Cytoskeleton;Secreted NA PE2 4 +NX_Q5FYB1 569 64030 8.82 0 Golgi apparatus;Secreted;Endoplasmic reticulum NA PE1 5 +NX_Q5GAN3 156 17845 8.87 0 Secreted NA PE1 14 +NX_Q5GAN4 147 17177 6.64 0 Secreted;Cytoplasmic vesicle;Cytoskeleton NA PE2 14 +NX_Q5GAN6 216 24008 4.86 0 Secreted NA PE2 14 +NX_Q5GFL6 755 82012 8.38 0 Secreted NA PE1 10 +NX_Q5GH70 373 43406 8.55 8 Mitochondrion;Membrane NA PE1 8 +NX_Q5GH72 579 63826 9.22 7 Membrane NA PE1 20 +NX_Q5GH73 641 71638 8.19 7 Membrane NA PE2 8 +NX_Q5GH76 650 71501 8.08 10 Membrane NA PE1 8 +NX_Q5GH77 459 53448 9.13 10 Cell membrane NA PE1 22 +NX_Q5GJ75 292 32659 8.75 0 Cytoplasm;Cell membrane NA PE1 15 +NX_Q5GLZ8 1057 118563 5.8 0 Cytosol;Nucleolus;Cytosol NA PE1 10 +NX_Q5H8A3 153 17731 9.76 0 Secreted NA PE2 2 +NX_Q5H8A4 983 108173 6.7 12 Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum membrane Mental retardation, autosomal recessive 53 PE1 4 +NX_Q5H8C1 2179 244154 5.55 0 Basement membrane Bifid nose, with or without anorectal and renal anomalies;Trigonocephaly 2;Manitoba oculotrichoanal syndrome PE1 9 +NX_Q5H913 290 33003 9.24 0 NA NA PE1 X +NX_Q5H943 113 12784 10.2 1 Cell membrane NA PE1 X +NX_Q5H9B9 411 46091 5.4 0 NA NA PE5 X +NX_Q5H9E4 307 34481 9.86 6 Mitochondrion inner membrane NA PE1 X +NX_Q5H9F3 1711 182526 6.9 0 Cell membrane;Nucleus;Nucleoplasm NA PE1 X +NX_Q5H9I0 405 44967 5.91 0 Cytoplasm;Nucleus NA PE1 X +NX_Q5H9J7 111 12602 4.73 0 Cytoplasm NA PE1 X +NX_Q5H9J9 407 46373 5.07 0 NA NA PE3 X +NX_Q5H9K5 638 74755 8.65 0 Nucleus;Nucleoplasm NA PE2 X +NX_Q5H9L2 206 23307 4.74 0 Nucleus;Nucleoplasm;Cytosol NA PE1 X +NX_Q5H9L4 462 52588 4.55 0 Nucleoplasm;Nucleus;Cytoplasm NA PE1 X +NX_Q5H9M0 696 79040 4.88 0 NA NA PE1 X +NX_Q5H9R4 360 39406 9.27 1 Membrane NA PE1 X +NX_Q5H9R7 873 97669 4.5 0 Nucleoplasm;Cell membrane;Cytoplasm;Nucleus;Cytosol NA PE1 11 +NX_Q5H9S7 520 58778 6.58 2 Membrane;Nucleoplasm;Nucleolus Woodhouse-Sakati syndrome PE1 2 +NX_Q5H9T9 825 87956 4.22 0 Cytoplasm;Flagellum NA PE1 14 +NX_Q5H9U9 1706 197674 8.57 0 Cytosol;Cell membrane NA PE1 4 +NX_Q5HY64 1035 115338 6.74 0 NA NA PE2 X +NX_Q5HY92 759 82146 6.24 0 Nucleoplasm;Nucleus matrix;Cytosol;Cytoplasmic vesicle;Cell membrane;Centrosome;Cell junction NA PE1 2 +NX_Q5HY98 468 54507 9.55 0 Centrosome;Nucleus NA PE1 19 +NX_Q5HYA8 995 111745 6.34 6 Cell membrane;Endoplasmic reticulum membrane;Cilium;Cilium basal body Meckel syndrome 3;COACH syndrome;Nephronophthisis 11;Joubert syndrome 6;Bardet-Biedl syndrome PE1 8 +NX_Q5HYC2 2103 228087 9.18 0 Cytoplasmic vesicle;Cytosol;Nucleus NA PE1 9 +NX_Q5HYI7 312 35093 7.64 0 Mitochondrion;Mitochondrion;Mitochondrion outer membrane NA PE1 5 +NX_Q5HYI8 236 26423 6.6 0 Nucleoplasm NA PE1 3 +NX_Q5HYJ1 363 42009 9.63 3 Endoplasmic reticulum;Membrane Ventricular tachycardia, catecholaminergic polymorphic, 3 PE1 4 +NX_Q5HYJ3 339 38708 9.38 0 Nucleus;Nucleus speckle;Nucleus;Nucleolus NA PE1 11 +NX_Q5HYK3 327 37140 6.47 0 Mitochondrion;Mitochondrion inner membrane;Nucleolus NA PE1 12 +NX_Q5HYK7 790 86525 8.54 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 4 +NX_Q5HYK9 610 70161 9.79 0 Nucleus;Nucleus NA PE1 19 +NX_Q5HYL7 178 19025 8.52 4 Membrane NA PE2 7 +NX_Q5HYM0 836 94205 7.6 0 Golgi apparatus;Cytoplasmic vesicle;Endoplasmic reticulum NA PE2 X +NX_Q5HYN5 189 21273 9.85 0 NA NA PE1 X +NX_Q5HYR2 192 20139 6.5 0 NA NA PE2 X +NX_Q5HYW2 709 76301 7.25 0 Mitochondrion NA PE1 X +NX_Q5HYW3 569 64711 4.71 0 Nucleoplasm NA PE1 X +NX_Q5I0G3 518 58651 5.85 0 NA NA PE1 2 +NX_Q5I0X4 101 10566 8.02 0 Nucleus speckle NA PE1 6 +NX_Q5I0X7 151 17296 4.86 0 Nucleoplasm;Mitochondrion NA PE1 2 +NX_Q5I7T1 473 55448 9.33 12 Cell membrane NA PE1 12 +NX_Q5IJ48 1285 134265 5.31 1 Apical cell membrane;Secreted Ventriculomegaly with cystic kidney disease;Focal segmental glomerulosclerosis 9 PE1 9 +NX_Q5J5C9 76 8456 8.99 0 Secreted NA PE1 20 +NX_Q5J8M3 183 20087 8.84 2 Cell junction;Focal adhesion;Membrane NA PE1 15 +NX_Q5J8X5 152 17307 8.82 4 Membrane NA PE2 11 +NX_Q5JNZ3 666 76322 9.03 0 Nucleus NA PE1 6 +NX_Q5JNZ5 115 13002 10.55 0 NA NA PE5 X +NX_Q5JPB2 1677 177949 8.67 0 NA NA PE1 20 +NX_Q5JPE7 1267 139439 5.5 1 Endoplasmic reticulum membrane NA PE1 16 +NX_Q5JPF3 1778 199748 8.02 0 NA NA PE1 2 +NX_Q5JPH6 523 58689 8.97 0 Mitochondrion matrix;Nucleoplasm;Mitochondrion Combined oxidative phosphorylation deficiency 12 PE1 16 +NX_Q5JPI3 329 37541 6.01 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 3 +NX_Q5JPI9 291 31830 5.77 0 Nucleus;Nucleus;Cytoplasm;Nucleoplasm NA PE1 10 +NX_Q5JQC4 288 30100 4.2 0 NA NA PE1 X +NX_Q5JQC9 854 94477 6.56 0 Flagellum NA PE1 X +NX_Q5JQD4 70 7832 4.43 0 Secreted NA PE5 X +NX_Q5JQF7 62 7289 11.22 0 NA NA PE4 6 +NX_Q5JQF8 200 22799 9.18 0 NA NA PE1 X +NX_Q5JQS5 317 35342 9.12 7 Cell membrane NA PE2 1 +NX_Q5JQS6 135 15712 6.22 0 Cytosol NA PE1 1 +NX_Q5JR12 505 54834 7.19 0 Cytoplasmic vesicle NA PE1 1 +NX_Q5JR59 1369 150195 6.23 0 Cytoskeleton;Cytoskeleton;Cytoskeleton NA PE1 13 +NX_Q5JR98 221 23353 9.87 0 NA NA PE1 1 +NX_Q5JRA6 1907 213702 4.76 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA PE1 1 +NX_Q5JRC9 791 90592 9.24 0 NA NA PE1 X +NX_Q5JRK9 111 12041 4.06 0 NA NA PE1 X +NX_Q5JRM2 361 39944 9.59 1 Membrane NA PE1 X +NX_Q5JRS4 329 36549 8.66 7 Cell membrane NA PE3 1 +NX_Q5JRV8 349 38449 8.23 4 Nucleus;Nucleus;Membrane NA PE2 X +NX_Q5JRX3 1037 117413 6.45 0 Mitochondrion matrix;Mitochondrion NA PE1 10 +NX_Q5JS13 557 62133 9.21 0 Cytoplasm;Cell membrane NA PE1 9 +NX_Q5JS37 347 38283 5.98 0 Secreted NA PE1 13 +NX_Q5JS54 123 13775 6.04 0 Mitochondrion;Nucleus;Cytoplasm NA PE1 6 +NX_Q5JSH3 913 101366 5.29 0 Endosome membrane;Golgi apparatus;Cytosol;Perinuclear region;trans-Golgi network NA PE1 X +NX_Q5JSJ4 861 96673 8.89 0 Centrosome;Mitochondrion NA PE1 X +NX_Q5JSL3 2073 237671 7.87 0 Nucleolus;Nucleus membrane NA PE1 X +NX_Q5JSP0 725 79401 5.78 0 Cytosol;Cytoskeleton;Nucleus;Cytoplasm NA PE1 9 +NX_Q5JSQ8 128 14546 5.41 0 NA NA PE5 6 +NX_Q5JSS6 88 10795 9.14 0 NA NA PE2 10 +NX_Q5JST6 749 87397 7.14 0 NA NA PE1 X +NX_Q5JSZ5 2229 242967 8.55 0 Nucleus;Cytosol NA PE1 9 +NX_Q5JT25 222 25038 5.14 0 Cytoplasm NA PE1 X +NX_Q5JT78 98 10987 7.65 0 NA NA PE4 1 +NX_Q5JT82 389 42577 6.27 0 Nucleus NA PE1 1 +NX_Q5JTB6 97 10309 4.8 0 Secreted NA PE1 10 +NX_Q5JTC6 1135 124029 4.77 0 Cytoplasm;Cell membrane;Nucleus;Cytoplasmic vesicle;Cell membrane;Nucleus Osteopathia striata with cranial sclerosis PE1 X +NX_Q5JTD0 557 61821 5.67 0 Tight junction;Golgi apparatus;Golgi apparatus NA PE1 6 +NX_Q5JTD7 316 33409 4.73 0 Cytosol NA PE1 6 +NX_Q5JTH9 1297 143702 8.97 1 Nucleolus;Nucleolus;Nucleus membrane NA PE1 10 +NX_Q5JTJ3 125 14116 8.54 0 Mitochondrion;Mitochondrion intermembrane space Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 PE1 1 +NX_Q5JTN6 314 34312 8.89 0 NA NA PE1 9 +NX_Q5JTV8 583 66248 8.22 1 Nucleus membrane;Nucleus inner membrane Limb-girdle muscular dystrophy 2Y PE1 1 +NX_Q5JTW2 689 76396 8.47 0 Centrosome;Cilium basal body;Centriole Cone-rod dystrophy and hearing loss PE1 9 +NX_Q5JTY5 395 44038 4.76 0 NA NA PE2 9 +NX_Q5JTZ5 239 26314 8.94 0 Nucleus NA PE1 9 +NX_Q5JTZ9 985 107340 5.87 0 Mitochondrion;Mitochondrion Leukoencephalopathy, progressive, with ovarian failure;Combined oxidative phosphorylation deficiency 8 PE1 6 +NX_Q5JU00 501 55632 6.31 0 Cytoplasmic vesicle NA PE1 6 +NX_Q5JU67 520 60533 8.88 0 Cell membrane;Cilium basal body;Cytosol NA PE1 9 +NX_Q5JU69 321 35714 8.13 0 Endoplasmic reticulum lumen NA PE1 9 +NX_Q5JU85 1478 161736 8.78 0 Cytoplasm;Cytoplasmic vesicle Mental retardation, X-linked 1 PE1 X +NX_Q5JUK2 328 34526 5.27 0 Nucleus speckle;Cytoplasm;Nucleus NA PE1 9 +NX_Q5JUK3 1230 138343 7.48 6 Cell membrane Epileptic encephalopathy, early infantile, 14;Epilepsy, nocturnal frontal lobe, 5 PE1 9 +NX_Q5JUK9 113 12480 4.61 0 NA NA PE1 X +NX_Q5JUQ0 283 31968 8.22 0 Nucleus;Cytoplasmic vesicle NA PE1 9 +NX_Q5JUR7 227 25585 8.9 0 NA NA PE1 13 +NX_Q5JUW0 171 20100 5.54 0 NA NA PE2 X +NX_Q5JUX0 258 29207 6.31 0 Nucleoplasm NA PE1 X +NX_Q5JV73 1810 199209 8.44 0 NA NA PE1 X +NX_Q5JVF3 399 46030 8.78 0 Nucleolus;Nucleus NA PE1 13 +NX_Q5JVG2 852 98221 8.68 0 Nucleus membrane;Nucleoplasm;Nucleus;Cytosol NA PE1 9 +NX_Q5JVG8 444 51537 9.42 0 Nucleus;Nucleus NA PE2 19 +NX_Q5JVL4 640 73990 5.82 0 Cytosol;Cell membrane;Centrosome;Spindle Juvenile myoclonic epilepsy 1;Juvenile absence epilepsy 1 PE1 6 +NX_Q5JVS0 413 45785 6.97 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleolus;Nucleus speckle;Cajal body;Gem;Nucleus;Cytoplasm;Cytoplasmic granule;Sarcoplasm;Nuclear body NA PE1 9 +NX_Q5JVX7 400 46135 9.7 0 NA NA PE2 1 +NX_Q5JW98 314 35060 6.44 4 Membrane NA PE1 6 +NX_Q5JWF2 1037 111025 4.91 0 Cell membrane;Apical cell membrane Pseudohypoparathyroidism 1C;GNAS hyperfunction;Pseudohypoparathyroidism 1B;ACTH-independent macronodular adrenal hyperplasia 1 PE1 20 +NX_Q5JWF8 245 26751 9.5 0 NA NA PE1 20 +NX_Q5JWR5 2465 277355 5.88 0 Nucleus NA PE1 6 +NX_Q5JX69 171 19499 9.08 1 Membrane NA PE1 20 +NX_Q5JX71 171 19603 9.51 1 Membrane NA PE1 20 +NX_Q5JXA9 342 36968 5.47 1 Nucleus;Membrane NA PE1 20 +NX_Q5JXB2 153 17377 5.66 0 NA NA PE1 X +NX_Q5JXC2 388 42824 8.68 0 Nucleoplasm;Cytosol NA PE1 1 +NX_Q5JXM2 366 41330 9.41 0 Secreted NA PE2 6 +NX_Q5JXX5 417 47728 8.5 3 Perikaryon;Dendrite;Postsynaptic cell membrane;Synapse;Cell membrane NA PE2 X +NX_Q5JXX7 168 19813 6.09 2 Nucleolus;Membrane NA PE1 X +NX_Q5JY77 1395 156865 4.64 0 Cytosol;Cytoplasm NA PE1 X +NX_Q5JYT7 1200 130846 5.97 0 Nucleolus;Golgi apparatus;Cytoplasmic vesicle NA PE1 20 +NX_Q5JZY3 1008 109716 6.52 1 Cell membrane;Secreted NA PE1 1 +NX_Q5K130 101 10963 9.55 0 NA NA PE5 12 +NX_Q5K131 121 14228 9.08 0 Cytoplasm NA PE2 12 +NX_Q5K4E3 855 91955 5.41 0 Extracellular matrix NA PE1 16 +NX_Q5K4L6 730 78644 7.25 2 Endoplasmic reticulum;Mitochondrion membrane NA PE1 1 +NX_Q5K651 1589 184281 7.98 0 Cytosol;Cytoplasm;Cytoplasmic vesicle Tumoral calcinosis, normophosphatemic, familial;MIRAGE syndrome PE1 7 +NX_Q5KSL6 1271 141829 5.36 0 Membrane;Cytoplasm NA PE1 X +NX_Q5KU26 742 81515 5.48 1 Cell junction;Membrane;Golgi apparatus;Cytoplasmic vesicle NA PE1 18 +NX_Q5M775 1068 118585 6.29 0 Nucleus;Membrane NA PE1 17 +NX_Q5M7Z0 435 49710 8.85 6 Endoplasmic reticulum membrane;Nucleolus NA PE1 17 +NX_Q5M8T2 416 44183 6.94 10 Membrane;Microtubule organizing center NA PE1 6 +NX_Q5M9N0 1113 127140 6.08 0 NA NA PE1 4 +NX_Q5M9Q1 402 46312 9.73 0 Nucleus NA PE2 6 +NX_Q5MAI5 379 43384 9 0 Cytoplasm NA PE1 2 +NX_Q5MCW4 686 79583 8.97 0 Golgi apparatus;Nucleus;Nucleoplasm;Cytoplasmic vesicle NA PE1 19 +NX_Q5MIZ7 849 97458 4.87 0 Nucleus speckle;Nucleus;Nucleoplasm;Centrosome;Cytoplasm;Centrosome NA PE1 2 +NX_Q5MJ07 72 8277 8.6 0 NA NA PE2 X +NX_Q5MJ08 99 11168 9.25 0 NA NA PE1 X +NX_Q5MJ09 141 15595 4.22 0 NA NA PE1 X +NX_Q5MJ10 180 19917 3.86 0 NA NA PE1 X +NX_Q5MJ68 293 33166 8.4 0 Cytoplasm NA PE1 11 +NX_Q5MJ70 313 36463 9.07 0 Nucleoplasm;Nucleus NA PE1 2 +NX_Q5MNV8 452 51968 8.69 0 NA NA PE2 17 +NX_Q5MNZ6 344 38122 7.53 0 Cytosol;Nucleus;Golgi apparatus NA PE1 17 +NX_Q5MNZ9 446 48673 6.14 0 Preautophagosomal structure membrane;Clathrin-coated vesicle;Endosome;Cytoskeleton;trans-Golgi network NA PE1 17 +NX_Q5MY95 495 53904 5.19 2 Cell membrane;Cytoplasmic vesicle;Nucleoplasm;Cytosol NA PE1 9 +NX_Q5NDL2 527 62011 6.58 0 Nucleoplasm;Cytosol;Endoplasmic reticulum lumen;Nucleus membrane Adams-Oliver syndrome 4 PE1 3 +NX_Q5NE16 218 25059 6.64 0 NA NA PE5 9 +NX_Q5NUL3 377 42241 9.52 7 Cell membrane;Cell membrane NA PE1 10 +NX_Q5PR19 223 24634 10.47 0 NA NA PE2 9 +NX_Q5PRF9 694 75483 6.37 0 Cytosol;Cytoplasm;Nucleus NA PE1 19 +NX_Q5PSV4 323 37629 5.04 0 Nucleus;Nucleoplasm NA PE1 14 +NX_Q5PT55 438 48871 9.02 9 Cell membrane;Membrane NA PE2 8 +NX_Q5QFB9 102 12196 9.78 2 Endoplasmic reticulum membrane NA PE5 9 +NX_Q5QGS0 1516 167551 6.03 0 Nucleoplasm;Nucleus;Cytoplasm;Midbody Mental retardation, X-linked 98 PE1 X +NX_Q5QGT7 225 26068 5.63 1 Cell membrane NA PE1 3 +NX_Q5QGZ9 265 30762 8.87 1 Cell membrane NA PE1 12 +NX_Q5QJ38 904 99275 4.62 0 Nucleus membrane;Nucleolus NA PE1 1 +NX_Q5QJ74 424 48195 5.23 0 Cytosol;Cytoskeleton NA PE1 11 +NX_Q5QJE6 756 84469 5.86 0 Nucleolus;Nucleus NA PE1 1 +NX_Q5QJU3 275 31309 7.87 7 Golgi apparatus membrane NA PE1 9 +NX_Q5QNW6 126 13920 10.31 0 Chromosome;Nucleus NA PE1 1 +NX_Q5QP82 559 60582 7.3 0 Nucleolus NA PE1 9 +NX_Q5R372 815 92513 5.18 0 Cytoplasmic vesicle;Nucleolus;Cytosol;Early endosome;Golgi apparatus Leukemia, acute myelogenous PE1 1 +NX_Q5R387 149 16844 8.89 0 Secreted NA PE3 1 +NX_Q5R3F8 820 89687 7.56 1 Nucleoplasm;Membrane;Cytoplasmic vesicle NA PE1 22 +NX_Q5R3I4 469 52787 5.61 0 Cytosol NA PE1 22 +NX_Q5R3K3 315 34458 8.87 4 Membrane NA PE1 6 +NX_Q5RGS3 127 14779 10.5 1 Membrane NA PE1 9 +NX_Q5RHP9 1530 168466 4.84 0 NA NA PE1 1 +NX_Q5RI15 118 13291 9 2 Mitochondrion membrane;Mitochondrion NA PE1 1 +NX_Q5RIA9 395 44068 4.76 0 Nucleus;Cytoplasm NA PE2 9 +NX_Q5RKV6 272 28235 6.06 0 Cytoplasm;Nucleolus;Nucleus NA PE1 16 +NX_Q5RL73 367 41808 8.92 0 Nucleus;Nucleoplasm NA PE1 7 +NX_Q5S007 2527 286103 6.35 0 Cytoplasmic vesicle;Endoplasmic reticulum;Nucleus;Membrane;Cytoplasm;Golgi apparatus;Perikaryon;Mitochondrion;Axon;Mitochondrion matrix;Mitochondrion outer membrane;Mitochondrion inner membrane;Dendrite;Synaptic vesicle membrane;Endosome;Lysosome Parkinson disease 8 PE1 12 +NX_Q5SGD2 360 41053 5.58 1 Cytosol;Nucleoplasm;Membrane NA PE1 3 +NX_Q5SNT2 666 72236 9.42 5 Nucleus membrane;Spindle pole;Nucleus inner membrane;Nucleus NA PE1 1 +NX_Q5SNV9 1468 162423 10.71 0 NA NA PE2 1 +NX_Q5SQ13 230 24070 9.25 0 NA NA PE4 9 +NX_Q5SQ64 297 32465 8.91 1 Cell membrane NA PE1 6 +NX_Q5SQ80 823 94087 8.12 0 NA NA PE4 9 +NX_Q5SQH8 315 35794 8.99 0 NA NA PE1 6 +NX_Q5SQI0 421 46810 9.97 0 Golgi apparatus;Cytosol;Focal adhesion;Axon;Cytoplasm;Clathrin-coated pit;Cytoskeleton;Spindle NA PE1 6 +NX_Q5SQN1 464 52562 8.87 0 Endomembrane system;Perinuclear region;Cytosol NA PE1 1 +NX_Q5SQQ9 334 34713 9.47 0 Nucleolus;Nucleus;Nucleus Microphthalmia, syndromic, 11 PE1 10 +NX_Q5SQS7 431 51232 5.87 0 NA NA PE2 10 +NX_Q5SQS8 335 39268 9.5 0 NA NA PE1 10 +NX_Q5SR53 167 18168 9.65 0 NA NA PE2 1 +NX_Q5SR56 506 54545 5.16 12 Nucleoplasm;Cytosol;Membrane NA PE1 9 +NX_Q5SRD0 308 33372 5.2 0 NA NA PE3 10 +NX_Q5SRD1 257 28048 9.47 2 Mitochondrion inner membrane NA PE5 10 +NX_Q5SRE5 1749 196043 6.27 0 Nuclear pore complex;Nucleus NA PE1 9 +NX_Q5SRE7 291 32411 5.88 0 Nucleus speckle NA PE1 9 +NX_Q5SRH9 613 69778 7.25 0 Centrosome NA PE1 1 +NX_Q5SRI9 462 53671 9.14 1 Golgi apparatus;Golgi apparatus membrane NA PE1 6 +NX_Q5SRN2 563 61626 9.28 2 Membrane NA PE1 6 +NX_Q5SRR4 150 16650 8.04 0 Nucleoplasm;Cytosol;Secreted NA PE1 6 +NX_Q5SSG8 566 54228 4.8 1 Cell membrane NA PE1 6 +NX_Q5SSJ5 553 61207 9.69 0 Nucleus;Nucleus speckle;Nucleus;Chromosome NA PE1 1 +NX_Q5SSQ6 148 16650 7.88 0 Cell junction;Cytoplasmic vesicle NA PE2 6 +NX_Q5ST30 1063 118490 6.56 0 Mitochondrion;Mitochondrion Combined oxidative phosphorylation deficiency 20 PE1 6 +NX_Q5SV17 173 19908 7.71 2 Synapse;Cell membrane Spinocerebellar ataxia 21 PE1 1 +NX_Q5SV97 790 81351 5.4 0 Cytoplasm;Nucleus NA PE1 1 +NX_Q5SVJ3 147 17617 9.64 0 NA NA PE1 1 +NX_Q5SVQ8 909 105192 8.17 0 Nucleus;Nucleus membrane;Nucleus;Cytosol NA PE1 1 +NX_Q5SVS4 291 32475 9.49 6 Mitochondrion inner membrane;Nucleoplasm NA PE1 13 +NX_Q5SVZ6 1142 128717 7.51 0 Microtubule organizing center;Nucleus NA PE1 1 +NX_Q5SW24 774 82700 9.09 0 NA NA PE2 6 +NX_Q5SW79 1584 175293 6.64 0 Spindle;Centriole NA PE1 1 +NX_Q5SW96 308 33885 6.25 0 Cytoplasm;Cytoskeleton Hypercholesterolemia, autosomal recessive PE1 1 +NX_Q5SWA1 713 79152 4.59 0 Golgi apparatus Microcephaly, short stature, and impaired glucose metabolism 2 PE1 1 +NX_Q5SWH9 247 27551 9.98 5 Membrane;Nucleoplasm NA PE1 1 +NX_Q5SWL7 426 49433 8.7 0 NA NA PE3 1 +NX_Q5SWL8 479 55208 7.99 0 NA NA PE3 1 +NX_Q5SWW7 151 16057 6.95 0 Nucleus NA PE1 10 +NX_Q5SWX8 454 51103 5.62 2 Cell membrane;Membrane;Nucleoplasm NA PE1 1 +NX_Q5SXH7 462 51839 5.55 0 Centrosome NA PE1 10 +NX_Q5SXM1 525 61411 9.36 0 Mitochondrion;Nucleolus;Nucleus;Cytosol NA PE1 1 +NX_Q5SXM2 1469 159433 8.51 0 Nucleoplasm;Nucleus membrane;Nucleus NA PE1 9 +NX_Q5SXM8 178 19204 9.88 0 Nucleoplasm;Mitochondrion;Mitochondrion NA PE1 9 +NX_Q5SY13 56 6588 10.35 0 NA NA PE5 9 +NX_Q5SY16 702 79323 9.3 0 Nucleus;Nucleolus;Cytoskeleton;Nucleolus NA PE1 1 +NX_Q5SY68 101 11302 4.99 0 NA NA PE1 1 +NX_Q5SY80 951 109662 6.86 1 Flagellum membrane NA PE1 1 +NX_Q5SY85 155 16478 9.12 0 NA NA PE4 9 +NX_Q5SYB0 1578 173437 5.14 0 Cytosol;Cell membrane NA PE1 9 +NX_Q5SYC1 327 38000 5.8 0 Early endosome membrane;trans-Golgi network membrane;Clathrin-coated vesicle NA PE1 6 +NX_Q5SYE7 1610 170668 6.52 0 Nucleoplasm;Cytosol NA PE1 6 +NX_Q5SZB4 431 47639 10.38 0 NA NA PE2 9 +NX_Q5SZD1 244 26754 8.14 0 Nucleus membrane NA PE1 6 +NX_Q5SZD4 288 32704 9.06 0 NA NA PE1 6 +NX_Q5SZI1 272 28581 5.45 1 Membrane NA PE1 1 +NX_Q5SZJ8 279 31222 8.54 0 Nucleus;Cell membrane;Nucleus NA PE1 6 +NX_Q5SZK8 3169 351157 4.89 1 Cytosol;Cell membrane Fraser syndrome PE1 13 +NX_Q5SZL2 805 91808 5.98 0 Centrosome NA PE1 6 +NX_Q5SZQ8 465 50548 8.74 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 1 +NX_Q5T011 3432 378029 5.85 0 Cytoplasmic vesicle;Peroxisome;Lysosome membrane;Nucleoplasm;Cytoskeleton Epileptic encephalopathy, early infantile, 18 PE1 1 +NX_Q5T013 277 30406 5.36 0 Golgi apparatus;Cell membrane;Cytosol NA PE1 1 +NX_Q5T035 196 20715 6.78 0 Mitochondrion NA PE4 9 +NX_Q5T036 256 27929 11.93 0 NA NA PE2 9 +NX_Q5T089 497 53850 6.64 0 Nucleus;Mitochondrion NA PE1 1 +NX_Q5T0B9 420 45814 9.7 0 Nucleus;Nucleolus;Nucleus NA PE1 1 +NX_Q5T0D9 272 30212 6.85 0 Cytoplasmic vesicle;Cytosol;Synaptic vesicle membrane NA PE1 1 +NX_Q5T0F9 858 94224 5.18 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle NA PE1 1 +NX_Q5T0J3 134 15074 9.92 0 NA NA PE2 1 +NX_Q5T0J7 233 26518 9.22 0 Cytoskeleton NA PE1 1 +NX_Q5T0L3 261 29150 7.48 0 Nucleus membrane NA PE1 1 +NX_Q5T0N1 1121 125721 5.57 0 Cilium NA PE1 10 +NX_Q5T0N5 605 70065 6.2 0 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Cell cortex;Cytoplasmic vesicle;Cell membrane NA PE1 1 +NX_Q5T0T0 291 32965 8.1 2 Cytoplasmic vesicle membrane;Lysosome membrane;Early endosome membrane NA PE1 10 +NX_Q5T0U0 273 32206 6.54 0 Cytoplasmic vesicle;Nucleus NA PE1 13 +NX_Q5T0W9 1011 114799 9.04 0 Membrane;Cytoplasm NA PE1 6 +NX_Q5T0Z8 1188 124034 9.48 0 Cytosol;Golgi apparatus NA PE1 6 +NX_Q5T124 520 57373 5.06 0 Cytosol;Cytoskeleton;Nucleolus NA PE1 1 +NX_Q5T160 578 65505 8.41 0 Cytosol;Nucleus;Mitochondrion matrix Pontocerebellar hypoplasia 6 PE1 6 +NX_Q5T197 706 80712 9.28 6 Cell membrane NA PE1 1 +NX_Q5T1A1 773 86230 8.51 6 Membrane NA PE1 1 +NX_Q5T1B0 1012 118027 5.49 0 NA NA PE1 1 +NX_Q5T1B1 145 15403 6.9 0 NA NA PE2 10 +NX_Q5T1C6 240 27130 8.58 0 Cell membrane;Mitochondrion intermembrane space;Ruffle membrane;Cytoplasm;Mitochondrion;Mitochondrion inner membrane NA PE1 1 +NX_Q5T1H1 3165 350796 5.5 0 Secreted Retinitis pigmentosa 25 PE1 6 +NX_Q5T1J5 151 15490 9.95 0 Mitochondrion NA PE5 9 +NX_Q5T1J6 154 17173 6.49 0 NA NA PE2 20 +NX_Q5T1M5 1219 133630 5.11 0 Cytosol;Cytoplasm;Axon;Nucleolus;Early endosome NA PE1 9 +NX_Q5T1N1 836 92864 6.36 0 NA NA PE2 1 +NX_Q5T1Q4 408 45346 7.04 10 Membrane;Cytosol;Microtubule organizing center;Nucleoplasm NA PE1 6 +NX_Q5T1R4 2406 259465 7.85 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q5T1S8 102 11082 9.86 1 Cell membrane NA PE2 1 +NX_Q5T1V6 619 68810 7.18 0 Cytoplasm;Nucleus;Nucleus;Nucleus;Cytoplasm;Cytoskeleton Orofaciodigital syndrome 5 PE1 1 +NX_Q5T200 1668 196635 9.45 0 Nucleus membrane;Cytoskeleton;Nucleus speckle;Nucleoplasm NA PE1 13 +NX_Q5T215 181 20566 8.11 0 cis-Golgi network;Endoplasmic reticulum NA PE1 6 +NX_Q5T230 341 36439 10.9 0 Nucleus NA PE1 10 +NX_Q5T280 376 42009 7.11 0 Nucleus;Centrosome;Kinetochore;Spindle;Nucleolus NA PE1 9 +NX_Q5T292 105 11325 9.58 1 Membrane NA PE2 10 +NX_Q5T2D2 321 35127 9.68 1 Cell membrane NA PE1 6 +NX_Q5T2D3 398 45124 8.47 0 Cytosol;Cytoskeleton;Nucleoplasm NA PE1 1 +NX_Q5T2E6 689 78710 6.13 1 Membrane;Cytoplasmic vesicle NA PE1 10 +NX_Q5T2L2 129 14588 5.92 0 Cytoplasm NA PE5 10 +NX_Q5T2N8 411 46380 9.37 0 NA NA PE1 1 +NX_Q5T2Q4 361 41278 6.17 0 NA NA PE3 10 +NX_Q5T2R2 415 46261 9.17 0 Cytosol;Mitochondrion Coenzyme Q10 deficiency, primary, 2 PE1 10 +NX_Q5T2S8 1044 115679 7.98 0 Cilium basal body;Cilium axoneme Ciliary dyskinesia, primary, 23 PE1 10 +NX_Q5T2T1 576 65524 6.65 0 Cell junction;Tight junction;Membrane;Adherens junction NA PE1 10 +NX_Q5T2W1 519 57129 5.36 0 Membrane;Cell membrane NA PE1 1 +NX_Q5T319 152 15775 6.04 0 NA NA PE2 20 +NX_Q5T3F8 832 94958 7.23 10 Cytoskeleton;Cell membrane;Membrane NA PE1 6 +NX_Q5T3I0 446 50381 9.64 0 Nucleolus;Nucleus NA PE1 1 +NX_Q5T3J3 769 84568 9.72 0 Nucleus matrix;Nucleus;Microtubule organizing center NA PE1 1 +NX_Q5T3U5 1492 161629 6.64 17 Cell membrane NA PE1 6 +NX_Q5T3Y7 98 11178 9.18 0 NA NA PE5 6 +NX_Q5T440 356 38155 9.88 0 Mitochondrion;Mitochondrion Spastic paraplegia 74, autosomal recessive;Multiple mitochondrial dysfunctions syndrome 3 PE1 1 +NX_Q5T442 439 47002 7.56 4 Cell membrane;Gap junction Lymphedema, hereditary, 1C;Spastic paraplegia 44, autosomal recessive;Leukodystrophy, hypomyelinating, 2 PE1 1 +NX_Q5T447 861 97113 5.47 0 Perinuclear region NA PE1 1 +NX_Q5T481 1227 134357 5.48 0 Cytoskeleton;Golgi apparatus;Nucleolus;Nucleus;Nucleus Cardiomyopathy, dilated 1DD PE1 10 +NX_Q5T4B2 595 67592 5.7 0 Cell junction;Endoplasmic reticulum lumen;Nucleolus;Nucleus NA PE1 9 +NX_Q5T4D3 741 82991 9.11 12 Cytoplasmic vesicle;Membrane NA PE1 13 +NX_Q5T4F4 411 45843 5.09 3 Cytosol;Nucleoplasm;Growth cone membrane;Endoplasmic reticulum membrane;Recycling endosome membrane Spastic paraplegia 33, autosomal dominant PE1 10 +NX_Q5T4F7 317 35563 8.88 0 Secreted NA PE1 10 +NX_Q5T4H9 136 14851 11.17 0 Nucleoplasm NA PE2 10 +NX_Q5T4I8 152 17383 4.52 0 Nucleus speckle NA PE2 6 +NX_Q5T4J0 391 44527 8.36 1 Golgi apparatus membrane NA PE3 6 +NX_Q5T4S7 5183 573841 5.7 2 Cytoplasm;Cytoskeleton;Cytosol;Membrane;Nucleoplasm;Centrosome;Nucleus NA PE1 1 +NX_Q5T4T1 132 14360 10.4 3 Centrosome;Membrane NA PE2 6 +NX_Q5T4T6 812 93599 5.57 0 Nucleoplasm;Nucleus;Centromere NA PE1 6 +NX_Q5T4W7 220 22878 11.7 0 Mitochondrion;Secreted NA PE1 1 +NX_Q5T5A4 169 19350 9.27 0 Nucleus speckle;Cytosol NA PE1 1 +NX_Q5T5A8 94 9729 8.73 0 NA NA PE1 1 +NX_Q5T5B0 92 9507 9.07 0 NA NA PE1 1 +NX_Q5T5C0 1151 127573 6.96 0 Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle membrane;Synaptic vesicle;Synapse NA PE1 6 +NX_Q5T5D7 378 43945 9.06 0 Nucleus;Cytosol;Nucleus NA PE1 1 +NX_Q5T5F5 129 14090 11.14 0 NA NA PE2 1 +NX_Q5T5J6 900 103222 8.98 0 Cytosol NA PE1 1 +NX_Q5T5M9 372 42581 6.75 0 Golgi apparatus;Nucleoplasm NA PE2 10 +NX_Q5T5N4 469 53772 8.61 0 Mitochondrion NA PE2 6 +NX_Q5T5P2 1943 214116 6.59 0 Cytoplasm;Nucleus;Cytosol NA PE1 10 +NX_Q5T5S1 534 62689 8.93 0 NA NA PE1 9 +NX_Q5T5U3 1957 217331 7.85 0 Cytoskeleton;Cell membrane;Cell junction;Golgi apparatus membrane;Cell junction;Cytoplasmic vesicle membrane;Cytoskeleton NA PE1 10 +NX_Q5T5X7 828 94475 5.29 0 Nucleoplasm;Nucleus;Nucleolus NA PE1 6 +NX_Q5T5Y3 1602 177972 6.28 0 Spindle;Cytosol;Cytoskeleton NA PE1 9 +NX_Q5T601 910 101365 8.91 7 Cell membrane;Secreted NA PE1 6 +NX_Q5T619 568 62341 8.97 0 Nucleus NA PE1 1 +NX_Q5T653 305 33301 11.29 0 Mitochondrion;Nucleoplasm;Mitochondrion NA PE1 6 +NX_Q5T655 872 103417 8.44 0 Cilium;Nucleus NA PE1 10 +NX_Q5T681 223 25128 7.08 0 NA NA PE1 10 +NX_Q5T686 147 16773 10.84 0 Nucleus;Cell membrane NA PE1 10 +NX_Q5T699 404 46784 8.77 0 NA NA PE5 6 +NX_Q5T6C5 722 77181 9.4 0 Cytosol;Nucleolus;Cytoplasmic vesicle NA PE1 1 +NX_Q5T6F0 453 50517 9.23 0 Cytoplasm;Centrosome NA PE1 9 +NX_Q5T6F2 1119 117116 6.89 0 Cytosol NA PE1 9 +NX_Q5T6J7 187 20578 5.84 0 Cytosol;Mitochondrion NA PE1 9 +NX_Q5T6L9 678 77788 6.28 2 Endoplasmic reticulum membrane;Cytosol Periventricular nodular heterotopia 6 PE1 6 +NX_Q5T6M2 205 23040 11.95 0 NA NA PE5 6 +NX_Q5T6R2 138 15541 6.89 0 NA NA PE5 13 +NX_Q5T6S3 580 65591 9.08 0 Nucleus NA PE1 9 +NX_Q5T6V5 341 39029 5.61 0 Golgi apparatus NA PE1 9 +NX_Q5T6X4 162 17685 10.77 1 Membrane NA PE1 6 +NX_Q5T6X5 926 104753 8.29 7 Cell membrane NA PE1 6 +NX_Q5T700 205 21834 5.33 1 Membrane;Nucleoplasm;Golgi apparatus NA PE1 1 +NX_Q5T742 122 14441 10.26 0 Secreted NA PE2 10 +NX_Q5T749 579 64136 8.72 0 Cytoplasm NA PE1 1 +NX_Q5T750 250 26238 8.41 0 NA NA PE1 1 +NX_Q5T751 118 11543 8.83 0 NA NA PE1 1 +NX_Q5T752 114 11230 8.82 0 NA NA PE1 1 +NX_Q5T753 118 11616 8.71 0 NA NA PE1 1 +NX_Q5T754 118 11654 8.83 0 NA NA PE1 1 +NX_Q5T764 474 54993 7.62 0 NA NA PE1 10 +NX_Q5T7B8 1368 151903 6.69 0 Centriole NA PE1 9 +NX_Q5T7M4 302 32416 9.41 0 Cytoplasmic vesicle;Secreted;Secreted NA PE1 1 +NX_Q5T7M9 428 49024 6.92 1 Cytosol;Endoplasmic reticulum membrane;Nucleus NA PE1 1 +NX_Q5T7N2 865 98850 4.87 0 NA NA PE1 1 +NX_Q5T7N3 995 107342 5.15 0 Cytosol;Cytoskeleton;Cytoplasm NA PE1 1 +NX_Q5T7N8 215 24905 11.93 0 NA NA PE3 9 +NX_Q5T7P2 110 10982 8.84 0 NA NA PE1 1 +NX_Q5T7P3 118 11626 8.83 0 NA NA PE1 1 +NX_Q5T7P6 136 15193 4.87 2 Membrane NA PE2 1 +NX_Q5T7P8 510 57325 8.47 1 Cytoplasmic vesicle;Synaptic vesicle membrane;Membrane;Cytosol;Cell membrane NA PE1 1 +NX_Q5T7R7 199 22411 7.67 1 Membrane NA PE1 1 +NX_Q5T7V8 394 44993 6.66 0 Golgi apparatus;Cytosol;Cytoplasm;Golgi apparatus;Nucleus Geroderma osteodysplasticum PE1 1 +NX_Q5T7W0 954 104956 6.7 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q5T7W7 516 58263 6.89 0 Nucleoplasm NA PE1 9 +NX_Q5T848 1215 135489 8.57 7 Cell membrane;Cytosol NA PE1 10 +NX_Q5T870 116 12904 4.96 0 NA NA PE1 1 +NX_Q5T871 98 10697 8.44 0 NA NA PE1 1 +NX_Q5T890 1561 177127 8.83 0 Mitochondrion;Centrosome;Nucleoplasm;Cytosol;Nucleus Bone marrow failure syndrome 2 PE1 9 +NX_Q5T8A7 1209 127351 8.84 0 Nucleolus;Nucleoplasm NA PE1 9 +NX_Q5T8D3 534 60092 5.19 1 Peroxisome;Peroxisome membrane NA PE1 10 +NX_Q5T8I3 360 39308 6.62 0 Cytosol;Nucleolus NA PE1 1 +NX_Q5T8I9 393 44525 5.16 0 Cell membrane;Cytoplasm;Focal adhesion NA PE1 1 +NX_Q5T8P6 1007 113597 9.21 0 Nucleus speckle NA PE1 13 +NX_Q5T8R8 295 31184 11.77 0 NA NA PE1 9 +NX_Q5T953 404 42109 6.45 0 Nucleus NA PE1 9 +NX_Q5T9A4 648 72573 9.3 0 Mitochondrion inner membrane NA PE1 1 +NX_Q5T9C2 384 41785 8.83 0 Cytosol NA PE1 9 +NX_Q5T9C9 394 44572 9.63 0 Cytosol;Cytoplasm;Membrane NA PE1 9 +NX_Q5T9G4 340 38632 8.02 0 Nucleoplasm;Cell membrane NA PE1 6 +NX_Q5T9L3 541 62253 6.98 7 Cytoplasmic vesicle membrane;Cell membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum;Early endosome membrane NA PE1 1 +NX_Q5T9S5 1454 168962 5.52 0 Nucleoplasm;Cytosol NA PE1 1 +NX_Q5T9Z0 273 31315 8.02 6 Membrane NA PE2 1 +NX_Q5TA31 235 26190 5.7 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA PE1 1 +NX_Q5TA45 600 67663 8.27 0 Nucleus;Cytoplasm;Cytosol;Nucleus;Nucleoplasm;Cytoplasm NA PE1 1 +NX_Q5TA50 214 24365 6.71 0 Cytosol;Endosome membrane;Nucleus outer membrane;Cytosol;trans-Golgi network membrane;Cell membrane NA PE1 1 +NX_Q5TA76 89 9146 8.81 0 NA NA PE1 1 +NX_Q5TA77 95 9812 8.57 0 NA NA PE1 1 +NX_Q5TA78 99 9980 8.64 0 NA NA PE1 1 +NX_Q5TA79 106 10846 8.32 0 NA NA PE1 1 +NX_Q5TA81 110 11224 8.56 0 NA NA PE1 1 +NX_Q5TA82 110 11180 8.54 0 NA NA PE1 1 +NX_Q5TA89 166 18226 9.52 0 Cytosol;Nucleus speckle;Nucleoplasm;Nucleus NA PE2 1 +NX_Q5TAA0 569 63361 5.29 0 NA NA PE1 1 +NX_Q5TAB7 128 13906 4.42 0 Nucleus Spondylocostal dysostosis 6, autosomal recessive PE1 6 +NX_Q5TAG4 269 31307 4.67 0 Cytoplasm NA PE2 1 +NX_Q5TAH2 1124 129053 6.5 15 Membrane NA PE1 1 +NX_Q5TAP6 766 87188 6.7 0 Nucleolus NA PE1 13 +NX_Q5TAQ9 597 66852 5.21 0 Cytoplasm;Nucleus;Nucleoplasm;Cytosol Giant axonal neuropathy 2, autosomal dominant PE1 1 +NX_Q5TAT6 717 69950 9.27 1 Cell membrane;Postsynaptic cell membrane Myasthenic syndrome, congenital, 19 PE1 10 +NX_Q5TAX3 1644 185166 8.3 0 Nucleolus;Cytosol;Nucleus;Cytoplasm NA PE1 1 +NX_Q5TB30 811 92960 8.91 0 Nucleus;Nucleolus;Nucleus NA PE1 1 +NX_Q5TB80 1403 161943 5.36 0 Cell membrane;Cytosol;Centriole;Spindle;Nucleus NA PE1 6 +NX_Q5TBA9 3013 338875 5.66 0 Spindle pole;Centrosome;Cytoplasm NA PE1 13 +NX_Q5TBB1 312 35139 9.19 0 Nucleus;Nucleus Aicardi-Goutieres syndrome 2 PE1 13 +NX_Q5TBC7 163 17725 4.33 0 NA NA PE1 1 +NX_Q5TBE3 101 11254 9.26 0 NA NA PE1 9 +NX_Q5TBK1 243 28981 10.07 0 Cytosol;Nucleoplasm NA PE1 13 +NX_Q5TC04 95 10240 6.05 0 NA NA PE5 1 +NX_Q5TC12 328 36437 8.12 0 Mitochondrion;Mitochondrion NA PE1 1 +NX_Q5TC63 336 38554 9 0 NA NA PE1 13 +NX_Q5TC79 503 56055 6.3 0 Nucleus;Nucleus;Cytosol;Nucleolus NA PE1 1 +NX_Q5TC82 1133 125736 6.86 0 Cytosol;Cell membrane;P-body;Cytoplasmic granule NA PE1 1 +NX_Q5TC84 451 51252 5.81 0 Nucleoplasm;Golgi apparatus NA PE1 6 +NX_Q5TCH4 519 59246 9.21 0 Microsome membrane;Endoplasmic reticulum membrane NA PE1 1 +NX_Q5TCM9 118 11795 8.75 0 NA NA PE1 1 +NX_Q5TCQ9 1506 165608 8.17 0 Nucleus;Cell junction;Tight junction;Cell membrane NA PE1 1 +NX_Q5TCS8 1911 221413 4.96 0 Nucleus membrane;Nucleus;Cytoplasm;Nucleoplasm NA PE1 6 +NX_Q5TCX8 1036 113927 8.97 0 Cell membrane;Cytosol NA PE1 1 +NX_Q5TCY1 1321 142737 5.46 0 Nucleoplasm;Cytoplasm;Cytosol NA PE1 6 +NX_Q5TCZ1 1133 125289 9.01 0 Podosome;Cytoplasm NA PE1 10 +NX_Q5TD94 716 80733 4.38 0 Cilium axoneme;Cilium;Nucleus Ciliary dyskinesia, primary, 11 PE1 6 +NX_Q5TD97 284 32720 7.77 0 Nucleus NA PE1 6 +NX_Q5TDH0 399 44523 4.95 0 Nucleoplasm;Cytosol NA PE1 1 +NX_Q5TDP6 509 57278 5.96 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 6 +NX_Q5TEA3 1177 132287 6.11 0 Mitochondrion;Nucleolus;Cytosol NA PE1 20 +NX_Q5TEA6 688 77964 9.25 1 Membrane NA PE1 20 +NX_Q5TEC3 545 60461 6.88 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q5TEJ8 643 72049 5.77 0 Golgi apparatus NA PE1 1 +NX_Q5TEU4 345 38918 6.14 0 Mitochondrion inner membrane Mitochondrial complex I deficiency;Leigh syndrome PE1 20 +NX_Q5TEV5 83 9093 9.72 0 Secreted NA PE3 1 +NX_Q5TEZ4 76 8388 8.84 0 NA NA PE5 6 +NX_Q5TEZ5 329 38553 6.49 0 Nucleoplasm NA PE1 6 +NX_Q5TF21 947 103199 5.81 1 Cytosol;Membrane;Nucleus NA PE1 6 +NX_Q5TF39 518 56218 5.27 12 Cytoskeleton;Apical cell membrane NA PE1 6 +NX_Q5TF58 517 57328 4.86 0 Cell membrane;Nucleoplasm NA PE1 1 +NX_Q5TFE4 455 51845 5.94 0 NA NA PE1 6 +NX_Q5TFG8 222 24665 10.32 0 NA NA PE1 6 +NX_Q5TFQ8 398 43359 7.7 1 Membrane NA PE1 20 +NX_Q5TG30 622 68908 7.7 0 Centrosome;Cytosol;Nucleoplasm;Cell membrane NA PE2 20 +NX_Q5TG53 156 16212 10.6 0 NA NA PE5 1 +NX_Q5TG92 126 13826 10.19 0 NA NA PE2 1 +NX_Q5TGI0 409 46843 5.34 1 Nucleoplasm;Membrane NA PE1 6 +NX_Q5TGI4 173 19231 9.19 0 Cytoplasmic vesicle NA PE2 6 +NX_Q5TGJ6 251 27234 4.5 0 NA NA PE1 6 +NX_Q5TGL8 231 26560 4.94 0 Cell membrane NA PE1 6 +NX_Q5TGP6 573 65050 5.94 0 NA NA PE1 1 +NX_Q5TGS1 186 19968 9.74 0 Nucleus;Nucleus NA PE3 1 +NX_Q5TGU0 170 19129 8.48 5 Endoplasmic reticulum membrane NA PE1 6 +NX_Q5TGY1 634 67910 5.59 3 Endoplasmic reticulum;Membrane NA PE1 1 +NX_Q5TGY3 1603 168349 9.21 0 Nucleus Mental retardation, autosomal dominant 25 PE1 1 +NX_Q5TGZ0 78 8808 8.69 1 Mitochondrion;Mitochondrion inner membrane NA PE1 1 +NX_Q5TH69 2177 240652 5.54 1 Cytoplasm;Secretory vesicle;Secretory vesicle membrane NA PE1 6 +NX_Q5TH74 334 36786 9.79 0 Nucleoplasm;Cytoplasm;Nucleus NA PE1 1 +NX_Q5THJ4 4388 491916 6.15 0 Cytoplasmic vesicle;Cytosol;Nucleoplasm NA PE1 1 +NX_Q5THK1 2151 237300 5.93 0 Nucleoplasm NA PE1 22 +NX_Q5THR3 1501 172930 8.67 0 Nucleus;Nucleoplasm NA PE1 22 +NX_Q5TI25 921 105853 4.5 0 Cytoplasm NA PE2 1 +NX_Q5TIA1 1274 141161 6.24 0 Cell membrane;Nucleoplasm NA PE2 22 +NX_Q5TID7 509 60103 5.7 0 Nucleus speckle;Cytoskeleton;Flagellum NA PE2 1 +NX_Q5TIE3 1220 133802 8.45 0 Secreted;Cell membrane;Mitochondrion;Cytosol NA PE1 1 +NX_Q5TKA1 542 61946 9.17 0 Nucleoplasm;Nucleoplasm NA PE1 1 +NX_Q5TYM5 149 16619 5.54 0 Mitochondrion;Cytoplasm NA PE1 1 +NX_Q5TYW1 1059 122274 8.63 0 Nucleus NA PE1 9 +NX_Q5TYW2 823 94048 7.97 0 Cell membrane NA PE2 9 +NX_Q5TYX0 476 54886 8.53 0 NA NA PE2 1 +NX_Q5TZ20 316 34890 8.85 7 Cell membrane NA PE2 1 +NX_Q5TZA2 2017 228523 5.45 0 Cell membrane;Centrosome;Centrosome;Cilium basal body;Centriole NA PE1 1 +NX_Q5TZF3 282 31810 4.59 0 NA NA PE1 1 +NX_Q5TZJ5 1347 148561 9.07 1 Membrane NA PE3 9 +NX_Q5TZK3 123 14773 10.66 0 NA NA PE1 9 +NX_Q5U3C3 297 33508 8.41 7 Membrane;Cytoplasmic vesicle;Cell junction NA PE1 X +NX_Q5U4N7 250 28211 12.03 0 Mitochondrion NA PE2 20 +NX_Q5U4P2 390 41128 8.94 1 Membrane NA PE1 16 +NX_Q5U5Q3 659 69366 4.93 0 Cytoplasm;Cytoplasmic vesicle;Nucleus NA PE1 18 +NX_Q5U5R9 776 88122 8.42 0 Nucleoplasm NA PE1 10 +NX_Q5U5X0 104 11955 9.67 0 Mitochondrion matrix Mitochondrial complex III deficiency, nuclear 8 PE1 5 +NX_Q5U5X8 452 46792 9.2 0 Cell membrane;Focal adhesion;Nucleoplasm;Mitochondrion NA PE2 12 +NX_Q5U5Z8 902 104194 9.14 0 Cytosol;Centriole;Cilium basal body NA PE1 11 +NX_Q5U623 682 75764 7.96 0 Nucleus NA PE1 16 +NX_Q5U649 245 27626 7.73 0 Cytosol;Nucleus NA PE1 12 +NX_Q5U651 963 103457 8.17 0 Perinuclear region;Golgi stack NA PE1 19 +NX_Q5UAW9 335 36623 9.27 7 Cell junction;Cell membrane;Nucleolus;Cilium membrane NA PE1 1 +NX_Q5UCC4 262 27347 5.78 1 Membrane;Secreted NA PE1 19 +NX_Q5UE93 754 84258 7.58 0 Cytoplasm;Cell membrane NA PE1 17 +NX_Q5UIP0 2472 274466 5.39 0 Nucleus;Cell membrane;Spindle;Nucleus;Nucleus;Telomere;Chromosome NA PE1 2 +NX_Q5VIR6 699 79653 5.74 0 Recycling endosome;Golgi apparatus;Cytosol;trans-Golgi network membrane;Endosome membrane Pontocerebellar hypoplasia 2E PE1 17 +NX_Q5VIY5 522 60573 9.1 0 Nucleus NA PE1 19 +NX_Q5VSD8 79 8201 9.82 0 NA NA PE4 9 +NX_Q5VSG8 457 51317 6.47 1 Golgi apparatus membrane;Golgi apparatus NA PE1 1 +NX_Q5VSL9 837 95576 5.92 0 Cytosol;Cytoplasm NA PE1 1 +NX_Q5VSP4 162 17918 4.93 0 Secreted NA PE5 9 +NX_Q5VSR9 72 8263 5.79 0 NA NA PE3 X +NX_Q5VST6 288 32215 5.89 0 Secreted NA PE1 9 +NX_Q5VST9 7968 868484 5.69 0 Cell membrane;Cytosol;Z line;Nucleus;Sarcolemma;M line NA PE1 1 +NX_Q5VSY0 366 42078 8.89 0 Golgi apparatus;Cytosol;Microtubule organizing center NA PE1 9 +NX_Q5VT03 806 86276 6.98 0 NA NA PE3 10 +NX_Q5VT06 3117 350930 5.95 0 Centrosome;Centrosome;Spindle;Nucleus;Centriole;Cilium basal body NA PE1 1 +NX_Q5VT25 1732 197307 6.16 0 Cytoskeleton;Lamellipodium;Cytoplasm NA PE1 1 +NX_Q5VT28 67 7388 7.82 0 NA NA PE3 9 +NX_Q5VT33 79 9515 10.54 0 NA NA PE4 X +NX_Q5VT40 261 29835 9.46 0 Cytoplasmic vesicle;Golgi apparatus NA PE2 1 +NX_Q5VT52 1461 156020 6.97 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 1 +NX_Q5VT66 337 37499 9.12 1 Mitochondrion outer membrane;Membrane;Mitochondrion NA PE1 1 +NX_Q5VT79 327 36879 5.56 0 NA NA PE1 10 +NX_Q5VT97 1194 133230 8.83 0 Nucleolus;Golgi apparatus NA PE1 1 +NX_Q5VT98 475 54784 8.45 0 NA NA PE3 1 +NX_Q5VT99 294 32082 4.82 1 Cell membrane NA PE1 1 +NX_Q5VTA0 474 54769 8.41 0 NA NA PE2 1 +NX_Q5VTB9 566 62765 5.7 0 Cytoplasm NA PE1 1 +NX_Q5VTD9 330 37492 9.25 0 Nucleus Bleeding disorder, platelet-type 17 PE1 9 +NX_Q5VTE0 462 50185 9.15 0 Cytoplasm NA PE5 9 +NX_Q5VTE6 544 62339 8 0 Mitochondrion;Nucleoplasm NA PE1 1 +NX_Q5VTH2 177 19293 10.09 0 Cilium;Apical cell membrane;Cilium basal body NA PE1 1 +NX_Q5VTH9 848 94573 5.53 0 NA NA PE1 1 +NX_Q5VTJ3 777 84479 7.93 1 Membrane;Nucleus speckle NA PE1 1 +NX_Q5VTL7 733 78236 5.46 0 Nucleoplasm;Cytoskeleton;Secreted NA PE1 1 +NX_Q5VTL8 546 64468 10.54 0 Nucleus NA PE1 1 +NX_Q5VTM2 703 77972 8.14 0 NA NA PE2 10 +NX_Q5VTQ0 682 76956 7.16 0 Endoplasmic reticulum NA PE1 9 +NX_Q5VTR2 975 113662 5.73 0 Nucleoplasm;Nucleus NA PE1 9 +NX_Q5VTT2 229 26445 6.75 1 Cell membrane;Cytoplasm NA PE1 9 +NX_Q5VTT5 1437 162189 5.89 0 Cytoplasmic vesicle;M line NA PE1 1 +NX_Q5VTU8 51 5807 10.15 0 Mitochondrion;Mitochondrion inner membrane NA PE3 13 +NX_Q5VTY9 493 57313 6.9 10 Golgi apparatus;Endoplasmic reticulum membrane NA PE1 1 +NX_Q5VU36 1347 148687 9 1 Membrane NA PE3 9 +NX_Q5VU43 2346 265080 5.32 0 Centrosome;Golgi apparatus;Golgi apparatus NA PE1 1 +NX_Q5VU57 503 58230 8.66 0 Cytosol;Centriole;Golgi apparatus;Cilium basal body NA PE2 1 +NX_Q5VU65 1888 210605 7.15 1 Nucleus;Membrane NA PE1 1 +NX_Q5VU69 101 12131 9.72 0 NA NA PE1 1 +NX_Q5VU92 463 51201 8.84 0 NA NA PE1 X +NX_Q5VU97 1274 142290 5.97 1 Nucleolus;Nucleus;Membrane NA PE1 1 +NX_Q5VUA4 2279 251112 6.78 0 Nucleus;Nucleoplasm;Cytosol NA PE1 6 +NX_Q5VUB5 890 97854 6.12 1 Cell membrane;Membrane;Nucleoplasm NA PE1 10 +NX_Q5VUD6 431 48583 9 1 Cytoplasmic vesicle;Nucleus;Nucleus;Endoplasmic reticulum membrane NA PE1 9 +NX_Q5VUE5 145 15483 9.03 0 Cytoplasmic vesicle NA PE1 1 +NX_Q5VUG0 894 100563 6.14 0 Nucleus speckle;Nucleus NA PE1 10 +NX_Q5VUJ5 663 73211 6.25 0 NA NA PE5 10 +NX_Q5VUJ6 765 84588 6.11 0 Cell membrane;Nucleolus NA PE1 X +NX_Q5VUJ9 269 29714 8.92 0 Cell membrane;Cytosol NA PE1 1 +NX_Q5VUM1 108 12213 9.43 0 Mitochondrion;Mitochondrion matrix;Nucleus NA PE1 6 +NX_Q5VUR7 823 94108 8.12 0 NA NA PE4 9 +NX_Q5VUY0 350 39743 7.12 0 NA NA PE2 1 +NX_Q5VUY2 407 46082 8.54 1 Membrane NA PE3 1 +NX_Q5VV11 94 10769 11.91 0 NA NA PE5 9 +NX_Q5VV16 416 45780 9.58 0 Nucleus NA PE3 9 +NX_Q5VV17 481 51063 5.68 0 Nucleus;Nucleoplasm;Golgi apparatus NA PE1 10 +NX_Q5VV41 709 80105 6.9 0 Cytoplasm NA PE1 1 +NX_Q5VV42 579 65111 7.2 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane Diabetes mellitus, non-insulin-dependent PE1 6 +NX_Q5VV43 1072 117763 5.34 1 Cell membrane;Early endosome membrane Dyslexia 2 PE1 6 +NX_Q5VV52 312 35681 8.12 0 Nucleolus;Nucleus;Cytoplasmic vesicle;Nucleus NA PE1 1 +NX_Q5VV63 1379 152639 7.31 1 Nucleus;Mitochondrion;Membrane NA PE1 10 +NX_Q5VV67 1664 177544 6.11 0 Nucleus;Nucleoplasm NA PE1 10 +NX_Q5VVB8 128 14657 5.82 3 Membrane NA PE4 6 +NX_Q5VVC0 180 20418 9.03 0 NA NA PE2 1 +NX_Q5VVH5 260 29106 9.07 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA PE1 6 +NX_Q5VVJ2 828 95032 5.4 0 Nucleus;Cell membrane;Nucleoplasm NA PE1 1 +NX_Q5VVM6 783 91333 5.57 0 NA NA PE2 1 +NX_Q5VVP1 1343 147818 8.99 1 Membrane NA PE3 9 +NX_Q5VVQ6 348 38322 5.77 0 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA PE1 1 +NX_Q5VVS0 124 13926 6.89 0 NA NA PE5 1 +NX_Q5VVW2 1013 112852 7.57 0 Cytoplasmic vesicle NA PE1 9 +NX_Q5VVX9 321 37741 5.06 0 NA NA PE1 1 +NX_Q5VVY1 283 32400 6.51 0 Nucleus NA PE1 1 +NX_Q5VW00 463 50803 9.36 0 NA NA PE1 X +NX_Q5VW22 663 73127 6.41 0 NA NA PE2 10 +NX_Q5VW32 411 46476 7.55 0 Membrane;Cytosol;Golgi apparatus;Nucleoplasm NA PE1 1 +NX_Q5VW36 1801 200072 6.17 3 Mitochondrion;Membrane;Focal adhesion NA PE1 9 +NX_Q5VW38 600 66990 6.77 7 trans-Golgi network membrane;Nucleoplasm;Golgi apparatus NA PE1 9 +NX_Q5VWC8 232 27520 8.76 6 Endoplasmic reticulum membrane NA PE1 9 +NX_Q5VWG9 929 103582 9.13 0 Nucleoplasm;Nucleus membrane;Nucleus NA PE1 10 +NX_Q5VWI1 586 65660 9.84 0 NA NA PE2 10 +NX_Q5VWJ9 437 49677 5.21 0 Nucleolus;Nucleus;Cytosol NA PE1 9 +NX_Q5VWK0 638 72239 4.84 0 Cytoplasm NA PE2 1 +NX_Q5VWK5 629 71722 5.32 1 Cell membrane Inflammatory bowel disease 17 PE1 1 +NX_Q5VWM3 479 55334 8.31 0 NA NA PE3 1 +NX_Q5VWM4 474 53655 5.99 0 NA NA PE2 1 +NX_Q5VWM5 478 55420 8.82 0 NA NA PE2 1 +NX_Q5VWM6 474 54914 8.85 0 NA NA PE5 1 +NX_Q5VWN6 2430 268843 5.61 0 Cytosol;Nucleus NA PE1 10 +NX_Q5VWP2 391 44944 5.45 0 Nucleoplasm NA PE1 1 +NX_Q5VWP3 458 50429 5.96 0 Nucleus;PML body;Nucleus envelope;Nucleoplasm;Sarcolemma NA PE1 6 +NX_Q5VWQ0 802 90072 8.85 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA PE1 1 +NX_Q5VWQ8 1189 131625 8.92 0 Cytoplasm;Cell membrane;Membrane;Dendrite NA PE1 9 +NX_Q5VWT5 728 82070 8.58 0 Membrane raft NA PE1 1 +NX_Q5VWW1 255 26719 6.29 0 Secreted NA PE1 10 +NX_Q5VWX1 349 38927 5.94 0 Nucleus NA PE1 6 +NX_Q5VWZ2 237 26316 7.71 0 Cytosol;Cytosol NA PE1 1 +NX_Q5VX52 437 50307 8.54 0 NA NA PE2 1 +NX_Q5VX71 490 53778 4.78 1 Cytoplasmic vesicle;Secreted;Membrane NA PE2 1 +NX_Q5VXD3 122 13570 4.98 0 Mitochondrion NA PE1 1 +NX_Q5VXH4 476 54852 8.54 0 NA NA PE2 1 +NX_Q5VXH5 474 53627 5.99 0 NA NA PE2 1 +NX_Q5VXI9 398 45534 6.35 0 Secreted Ichthyosis, congenital, autosomal recessive 8 PE2 10 +NX_Q5VXJ0 399 45563 8.39 0 Secreted NA PE2 10 +NX_Q5VXM1 449 48752 5.81 0 Secreted NA PE2 1 +NX_Q5VXT5 272 30156 5.4 4 Membrane;Nucleoplasm NA PE1 1 +NX_Q5VXU1 208 23831 4.94 4 Cytosol;Cell membrane NA PE2 6 +NX_Q5VXU3 224 25616 4.51 0 Cytoplasmic vesicle;Nucleus speckle;Cytoplasmic vesicle;Cell membrane;Cytosol NA PE1 X +NX_Q5VXU9 1444 165202 5.1 0 Cytosol;Cytoplasmic vesicle NA PE2 9 +NX_Q5VY09 327 33704 4.91 0 Cytoplasm;Nucleus;Nucleolus;Nucleus NA PE1 1 +NX_Q5VY43 1037 110666 6.4 1 Centrosome;Cell membrane;Cell junction;Nucleoplasm NA PE1 1 +NX_Q5VY80 246 27509 5.96 0 Endoplasmic reticulum;Cell membrane NA PE1 6 +NX_Q5VYJ5 2156 241008 5.04 1 Cytoplasmic vesicle membrane;Golgi apparatus NA PE1 10 +NX_Q5VYK3 1845 204291 6.74 0 Cytoplasm;Nucleus;Multivesicular body;Nucleus;Cytoplasmic vesicle;Nucleus;Endosome;Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum;Centrosome NA PE1 9 +NX_Q5VYM1 1079 117724 7 0 Mitochondrion NA PE2 9 +NX_Q5VYP0 1347 148706 8.99 1 Membrane NA PE2 9 +NX_Q5VYS4 303 34190 6.06 0 Cytoplasm NA PE1 13 +NX_Q5VYS8 1495 171229 6.4 0 Cytoplasm;Nucleoplasm;Cytoplasm;Cytosol NA PE1 9 +NX_Q5VYV0 432 45581 9.55 0 Nucleus NA PE4 9 +NX_Q5VYV7 408 45552 9.5 0 Cytosol NA PE1 20 +NX_Q5VYX0 342 37847 6.06 0 Secreted NA PE1 10 +NX_Q5VYY1 191 21849 9.07 0 Nucleus NA PE1 10 +NX_Q5VYY2 423 48233 6.64 0 Secreted NA PE2 10 +NX_Q5VZ03 156 17614 6.9 0 Cytosol NA PE2 9 +NX_Q5VZ18 495 53950 9.23 0 NA NA PE1 1 +NX_Q5VZ19 366 40941 8.1 0 Cytoplasmic vesicle NA PE1 1 +NX_Q5VZ46 1190 126604 9.1 0 Nucleus membrane;Cytoplasmic vesicle NA PE1 1 +NX_Q5VZ52 161 18731 5.58 0 NA NA PE1 9 +NX_Q5VZ66 844 98529 5.53 0 Golgi apparatus NA PE1 10 +NX_Q5VZ72 239 27768 8.62 1 Cell membrane NA PE1 9 +NX_Q5VZ89 1909 212711 6.39 0 Cytosol;Golgi apparatus;Cell membrane;Cytoplasmic vesicle membrane;Cytosol;Cytoplasmic vesicle NA PE1 9 +NX_Q5VZB9 504 53125 9.15 0 Cytoplasmic vesicle;Nucleus NA PE1 9 +NX_Q5VZE5 725 83639 6.6 0 Cytoplasmic vesicle;Cytoplasm NA PE1 9 +NX_Q5VZF2 373 40518 8.77 0 Cytoplasm;Nucleus;Nucleoplasm;Nucleus;Cytoplasm NA PE1 13 +NX_Q5VZI3 342 37569 5.19 2 Membrane;Cell membrane;Cytosol NA PE1 9 +NX_Q5VZK9 1371 151557 8.02 0 Cytoplasm;Cytoskeleton;Cell membrane;Lamellipodium;Cytosol NA PE1 6 +NX_Q5VZL5 1548 172788 6.46 0 Nucleoplasm;Cytosol NA PE1 1 +NX_Q5VZM2 374 43250 5.85 0 Lysosome;Cytoplasm NA PE1 X +NX_Q5VZP5 1158 130176 5.1 0 Sarcomere;Nucleoplasm NA PE1 1 +NX_Q5VZQ5 186 21545 9.79 0 NA NA PE1 10 +NX_Q5VZR2 741 79011 8.51 0 NA NA PE3 9 +NX_Q5VZR4 134 14477 5.5 3 Membrane NA PE2 9 +NX_Q5VZT2 155 17689 10.01 0 NA NA PE2 10 +NX_Q5VZV1 264 29565 4.85 0 Nucleus NA PE1 13 +NX_Q5VZV4 182 19635 5.33 0 NA NA PE5 9 +NX_Q5VZY2 271 30395 8.5 6 Nucleolus;Nucleus;Membrane NA PE1 10 +NX_Q5W041 872 96405 5.89 0 NA NA PE1 10 +NX_Q5W064 366 42388 6.11 0 NA NA PE2 10 +NX_Q5W0A0 696 81686 4.73 0 NA NA PE1 13 +NX_Q5W0B1 726 81116 5.53 0 Cytoplasm;Cytosol;Nucleoplasm;Nucleus NA PE1 13 +NX_Q5W0B7 351 39663 9.36 6 Membrane NA PE1 10 +NX_Q5W0N0 161 18115 8.62 1 Membrane NA PE2 9 +NX_Q5W0Q7 1092 120440 5.8 0 Cajal body NA PE1 13 +NX_Q5W0U4 402 44381 5.99 0 Membrane;Cytosol;Cytoplasm;Nucleoplasm NA PE1 9 +NX_Q5W0V3 765 86558 5.13 0 Nucleus speckle;Cytosol NA PE1 10 +NX_Q5W0Z9 365 42278 7.87 4 Membrane;Cytoplasmic vesicle;Cell membrane;Mitochondrion NA PE1 13 +NX_Q5W111 196 21666 6.22 0 Cytoplasmic vesicle NA PE1 13 +NX_Q5W150 140 15095 9.75 0 NA NA PE1 20 +NX_Q5W186 159 18135 8.18 0 Secreted NA PE2 20 +NX_Q5W188 147 17316 4.97 0 Secreted NA PE5 20 +NX_Q5W5W9 173 19021 5.62 0 Secreted;Endoplasmic reticulum;Golgi apparatus NA PE2 2 +NX_Q5W5X9 447 50009 8.6 0 Cell membrane;Cytosol NA PE1 15 +NX_Q5XG85 94 10725 11.96 0 NA NA PE5 9 +NX_Q5XG87 772 82360 9.56 0 Golgi apparatus;Nucleus membrane;Cytoplasm;Nucleoplasm;Nucleoplasm NA PE1 5 +NX_Q5XG92 561 63529 9.37 0 Cytosol;Secreted NA PE1 16 +NX_Q5XG99 296 32066 5.99 1 Cytoskeleton;Cytosol;Membrane NA PE2 15 +NX_Q5XKE5 535 57836 6.75 0 NA NA PE1 12 +NX_Q5XKK7 198 21103 8.54 0 Golgi apparatus;Nucleoplasm NA PE1 15 +NX_Q5XKL5 378 42793 5.68 0 Nucleoplasm;Nucleus NA PE1 1 +NX_Q5XKP0 118 13087 9.44 1 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane NA PE1 19 +NX_Q5XKR4 325 34159 9.54 0 Nucleus NA PE1 5 +NX_Q5XKR9 115 13109 9.64 0 NA NA PE2 X +NX_Q5XLA6 110 11868 5.34 0 Cytoplasm NA PE1 11 +NX_Q5XPI4 1314 148515 6.31 0 Cytosol;Cytoplasm NA PE1 3 +NX_Q5XUX0 539 60664 6.56 0 Golgi apparatus;Nucleoplasm;Cytosol Mental retardation, autosomal recessive 45 PE1 16 +NX_Q5XUX1 488 54115 6.02 0 Cytosol NA PE1 19 +NX_Q5XX13 1052 119846 9.47 0 Nucleoplasm NA PE1 17 +NX_Q5XXA6 986 114078 8.76 8 Cytoplasm;Cell membrane NA PE1 11 +NX_Q5Y7A7 266 30008 6.51 1 Cell membrane;Late endosome membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Lysosome membrane NA PE1 6 +NX_Q5YKI7 109 12309 5.3 0 Membrane;Cytoplasm;Golgi apparatus NA PE5 6 +NX_Q5ZPR3 534 57235 4.77 1 Cytoplasmic vesicle;Membrane NA PE1 15 +NX_Q60I27 953 107748 5.75 0 Cytoplasm NA PE1 3 +NX_Q629K1 86 9683 9.36 1 Endoplasmic reticulum membrane NA PE1 8 +NX_Q63HK3 967 110941 8.68 0 Nucleus;Nucleoplasm;Nucleolus;Golgi apparatus NA PE1 16 +NX_Q63HK5 1081 118566 6.83 0 Nucleus;Mitochondrion;Nucleus;Nucleoplasm;Growth cone NA PE1 19 +NX_Q63HM1 303 33992 5.57 0 Mitochondrion;Cytosol;Nucleus NA PE1 17 +NX_Q63HM2 1172 132702 5.88 15 Nucleus;Cytosol;Membrane;Cytoplasm NA PE1 14 +NX_Q63HM9 321 36313 5.87 0 Cytoplasm;Golgi apparatus NA PE1 5 +NX_Q63HN1 556 61860 7.14 0 NA NA PE5 9 +NX_Q63HN8 5207 591407 6.05 0 Cytosol;Cytosol Moyamoya disease 2 PE1 17 +NX_Q63HQ0 302 34280 4.79 0 Cell membrane;Golgi apparatus;trans-Golgi network;Late endosome;Early endosome;Golgi apparatus NA PE1 4 +NX_Q63HQ2 1017 111271 7.24 0 Extracellular matrix;Synapse NA PE1 5 +NX_Q63HR2 1409 152580 8.67 0 Focal adhesion;Cell membrane NA PE1 12 +NX_Q63ZE4 541 60257 8.89 11 Membrane NA PE2 11 +NX_Q63ZY3 851 91174 5.44 0 Mitochondrion;Cytoplasm Palmoplantar keratoderma and woolly hair PE1 19 +NX_Q63ZY6 315 34347 9.01 0 NA NA PE5 7 +NX_Q641Q2 1341 147184 4.69 0 Cell membrane;Early endosome membrane NA PE1 10 +NX_Q641Q3 311 34398 8.72 0 Secreted NA PE1 17 +NX_Q643R3 524 57219 9.17 2 Endoplasmic reticulum membrane NA PE1 15 +NX_Q64ET8 278 30490 7.6 0 Nucleus NA PE2 4 +NX_Q64LD2 544 60161 9.21 0 Nucleus;Nucleoplasm NA PE1 14 +NX_Q658K8 133 14137 5.94 0 NA NA PE5 13 +NX_Q658L1 398 45933 9.12 0 Golgi apparatus;Nucleoplasm NA PE2 15 +NX_Q658N2 575 65694 9.34 1 Nucleoplasm;Golgi apparatus;Membrane NA PE1 17 +NX_Q658P3 488 54601 8.86 6 Nucleolus;Cytosol;Endosome membrane Anemia, hypochromic microcytic, with iron overload 2 PE1 2 +NX_Q658T7 463 50084 10.2 0 NA NA PE5 8 +NX_Q658Y4 838 93909 5.95 0 Cytoskeleton;Nucleoplasm NA PE1 8 +NX_Q659A1 982 110011 6.69 0 Nucleus;Nucleus;Nucleoplasm NA PE1 15 +NX_Q659C4 914 105322 7.33 0 Nucleus;Cytosol NA PE1 4 +NX_Q66GS9 1140 133490 5.87 0 Centriole Microcephaly 8, primary, autosomal recessive PE1 4 +NX_Q66K14 1250 140525 5.14 1 Nucleolus;Cell membrane;Membrane;Nucleus NA PE1 5 +NX_Q66K41 422 44107 10.42 0 Nucleus NA PE1 17 +NX_Q66K64 600 66463 6.14 0 Mitochondrion;Cytoplasmic vesicle NA PE1 19 +NX_Q66K66 360 39475 9.97 7 Membrane;Cell membrane;Cytoplasmic vesicle;Cytoplasmic vesicle NA PE1 2 +NX_Q66K74 1059 112211 6.93 0 Nucleus;Cytosol;Cytosol;Cytoskeleton;Spindle NA PE1 19 +NX_Q66K79 652 73655 8.22 0 Extracellular matrix NA PE1 4 +NX_Q66K80 236 24494 10.2 0 NA NA PE5 1 +NX_Q66K89 784 83496 5.91 0 Nucleoplasm;Cytoplasm;Nucleoplasm NA PE1 16 +NX_Q66LE6 453 52042 5.96 0 Cytoplasm NA PE1 10 +NX_Q66PJ3 421 44915 10.93 0 Nucleolus;Nucleus speckle NA PE1 12 +NX_Q674R7 924 101019 8.62 6 Autophagosome membrane NA PE1 7 +NX_Q674X7 775 86351 6.57 0 Cytosol;Cytoskeleton;Nucleoplasm;Nucleus;Desmosome;Cytoplasm NA PE1 1 +NX_Q676U5 607 68265 6.2 0 Cytosol;Cytoplasm;Preautophagosomal structure membrane Inflammatory bowel disease 10 PE1 2 +NX_Q67FW5 361 40713 6.97 0 Nucleolus NA PE1 17 +NX_Q684P5 730 80056 6.22 0 Cytosol;Cytoplasm;Perinuclear region;Nucleus membrane NA PE1 17 +NX_Q685J3 4493 451741 4.03 1 Secreted;Cell membrane;Cell membrane NA PE1 7 +NX_Q687X5 459 51981 9.39 6 Golgi apparatus;Cell membrane;Early endosome membrane;Golgi apparatus membrane NA PE1 7 +NX_Q68BL7 652 73054 7.89 0 Cytosol;Nucleoplasm;Secreted NA PE1 9 +NX_Q68BL8 750 83999 5.07 0 Cytosol;Secreted NA PE1 1 +NX_Q68CJ6 796 91132 8.85 0 Nucleus speckle NA PE2 8 +NX_Q68CJ9 461 49077 4.99 1 Endoplasmic reticulum membrane;Nucleus NA PE1 19 +NX_Q68CK6 577 64271 8.5 0 Mitochondrion matrix NA PE1 16 +NX_Q68CL5 300 33318 6.25 0 Cytoskeleton;Nucleolus NA PE1 18 +NX_Q68CP4 663 73293 8.69 11 Lysosome membrane Retinitis pigmentosa 73;Mucopolysaccharidosis 3C PE1 8 +NX_Q68CP9 1835 197391 7.08 0 Nucleoplasm;Cell membrane;Nucleus NA PE1 12 +NX_Q68CQ1 1323 145647 6.51 2 Membrane NA PE1 1 +NX_Q68CQ4 756 87055 5.6 0 Nucleus;Nucleolus;Nucleoplasm;Golgi apparatus NA PE1 1 +NX_Q68CQ7 371 41935 9.37 1 Mitochondrion;Membrane NA PE1 3 +NX_Q68CR1 1132 128567 6.87 1 Nucleus;Membrane NA PE1 4 +NX_Q68CR7 880 97778 6.01 2 Membrane NA PE2 4 +NX_Q68CZ1 1315 151201 5.21 0 Cell membrane;Cytoplasm;Cilium basal body;Tight junction;Centrosome;Cilium axoneme;Cytosol Meckel syndrome 5;COACH syndrome;Joubert syndrome 7 PE1 16 +NX_Q68CZ2 1445 155266 6.34 0 Focal adhesion;Focal adhesion NA PE1 7 +NX_Q68CZ6 603 69650 5.4 0 Centrosome;Spindle;Mitochondrion;Cytoskeleton NA PE1 4 +NX_Q68D06 897 102045 6.55 0 Cytoskeleton NA PE1 17 +NX_Q68D10 685 75599 9.79 0 Nucleolus;Nucleus;Nucleus;Nucleolus;Nucleolus NA PE1 11 +NX_Q68D20 193 20909 5.15 0 NA NA PE1 7 +NX_Q68D42 235 25806 5.23 2 Membrane NA PE2 9 +NX_Q68D51 928 106865 8.75 0 Nucleus NA PE1 1 +NX_Q68D85 454 50827 5.39 1 Cell membrane NA PE1 11 +NX_Q68D86 513 60448 5.71 0 Mitochondrion;Cytosol NA PE1 18 +NX_Q68D91 279 31372 6.41 0 Nucleus;Nucleus NA PE1 5 +NX_Q68DA7 1419 157578 8.67 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm;Adherens junction;Cell membrane NA PE1 15 +NX_Q68DC2 871 92219 6.91 0 Cytoplasm;Nucleolus;Nucleus;Cilium;Cytosol Nephronophthisis 16 PE1 9 +NX_Q68DD2 849 95082 5.28 0 Lysosome membrane;Nucleus;Cytoplasmic vesicle;Cytosol NA PE1 15 +NX_Q68DE3 2245 241681 7.41 0 Centrosome;Nucleoplasm;Nucleolus;Nucleus NA PE1 3 +NX_Q68DH5 695 81172 7.25 9 Membrane;Cytosol;Nucleoplasm NA PE1 5 +NX_Q68DI1 518 59613 8.68 0 Nucleus;Nucleus;Cytosol NA PE1 19 +NX_Q68DK2 2539 284576 5.97 0 Midbody;Centrosome Spastic paraplegia 15, autosomal recessive PE1 14 +NX_Q68DK7 614 67128 9.1 0 Nucleoplasm;Nucleus NA PE1 17 +NX_Q68DL7 685 77230 9.83 0 Mitochondrion NA PE1 18 +NX_Q68DN1 1984 224321 10.09 0 Nucleus NA PE1 2 +NX_Q68DQ2 2970 330633 5.1 0 Cytosol;Nucleoplasm NA PE1 3 +NX_Q68DU8 428 49138 8.4 0 Postsynaptic cell membrane;Nucleus speckle;Presynaptic cell membrane NA PE1 5 +NX_Q68DV7 783 85722 8.1 1 Endoplasmic reticulum membrane;Cell membrane;Nucleus envelope Sessile serrated polyposis cancer syndrome PE1 17 +NX_Q68DX3 1309 144282 6.29 0 Cytoplasm;Basolateral cell membrane;Tight junction NA PE1 10 +NX_Q68DY1 528 60893 9.29 0 Nucleus;Nucleus membrane;Cytoplasmic vesicle;Nucleoplasm NA PE2 19 +NX_Q68DY9 489 55367 7.78 0 Cytosol;Nucleus NA PE1 19 +NX_Q68E01 1043 118070 5.53 0 Nucleolus;Nucleus;Nucleus;Cytoplasm NA PE1 1 +NX_Q68EA5 555 64428 9.06 0 Nucleolus;Nucleus NA PE1 19 +NX_Q68EM7 881 95437 7.22 0 Cell membrane;Cytoplasm;Membrane;Cytoplasm;Nucleus;Tight junction;Cytosol NA PE1 16 +NX_Q68EN5 471 53446 9.27 0 Nucleoplasm;Cytoplasmic vesicle NA PE2 16 +NX_Q68G74 356 39301 8.61 0 Nucleus;Cytosol;Nucleus;Nucleolus NA PE1 1 +NX_Q68G75 181 20326 8.74 1 Nucleolus;Membrane;Cytosol NA PE1 1 +NX_Q68J44 220 25336 5.68 0 Cytoplasm NA PE1 10 +NX_Q69383 105 11828 10.22 0 Nucleolus;Cytoplasm NA PE1 7 +NX_Q69384 699 79218 9.14 1 Virion;Cell membrane;Cell membrane NA PE1 7 +NX_Q693B1 232 25887 6.2 0 Nucleoplasm NA PE1 17 +NX_Q695T7 634 71110 4.92 12 Membrane Hyperglycinuria;Hartnup disorder;Iminoglycinuria PE1 5 +NX_Q69YG0 159 16991 8.97 4 Membrane NA PE2 3 +NX_Q69YH5 1023 112676 8.71 0 Nucleus;Nucleoplasm NA PE1 8 +NX_Q69YI7 327 35164 6.73 0 Nucleus;Cell membrane;Nucleoplasm NA PE1 9 +NX_Q69YL0 99 10891 12 0 NA NA PE1 3 +NX_Q69YN2 538 60619 6.87 0 Golgi apparatus;Nucleoplasm Spinocerebellar ataxia, autosomal recessive, 17 PE1 10 +NX_Q69YN4 1812 202025 4.9 0 Nucleoplasm;Nucleus speckle;Nucleoplasm;Nucleus NA PE1 8 +NX_Q69YQ0 1117 124602 5.52 0 Cytoskeleton;Spindle;Cytoskeleton;Gap junction Opitz GBBB syndrome 2;Facial clefting, oblique, 1 PE1 22 +NX_Q69YU3 496 52636 9.5 0 Cytosol NA PE1 1 +NX_Q69YU5 71 8023 9.21 0 Secreted;Mitochondrion;Cell membrane;Centrosome NA PE1 12 +NX_Q69YW2 141 15007 6.7 2 Cell membrane;Membrane NA PE1 1 +NX_Q69YZ2 307 32750 11.44 2 Membrane NA PE2 1 +NX_Q6A162 431 48139 4.35 0 NA NA PE1 17 +NX_Q6A163 491 55651 5.19 0 NA NA PE1 17 +NX_Q6A1A2 396 44765 8.61 0 Cytoplasm;Membrane NA PE5 16 +NX_Q6A555 127 14575 9.56 0 Cytoplasm;Golgi apparatus NA PE1 9 +NX_Q6AHZ1 1483 166782 9.38 0 Nucleus;Nucleus NA PE1 10 +NX_Q6AI08 1181 128781 6.64 0 Mitochondrion NA PE1 17 +NX_Q6AI12 368 41088 4.88 0 Cytosol;Golgi apparatus NA PE1 17 +NX_Q6AI14 798 89814 8.76 10 Nucleoplasm;Cell membrane;Basolateral cell membrane;Cytoplasmic granule membrane;Apical cell membrane NA PE2 2 +NX_Q6AI39 1079 115084 6.38 0 Nucleoplasm NA PE1 6 +NX_Q6AW86 544 60602 9.78 0 Cytosol;Nucleus;Nucleolus NA PE1 19 +NX_Q6AWC2 1192 133891 5.4 0 Cytoskeleton NA PE1 4 +NX_Q6AWC8 147 16804 9.84 0 NA NA PE5 11 +NX_Q6AZW8 331 38270 9.46 0 Nucleolus;Nucleus;Cytosol NA PE1 3 +NX_Q6AZY7 606 65137 6.08 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Golgi apparatus membrane NA PE1 8 +NX_Q6AZZ1 485 56259 6.07 0 Perinuclear region;Nucleus;Nucleus;Cytosol NA PE1 11 +NX_Q6B0B8 471 52027 7.12 0 Nucleus;Nucleus membrane;Nucleoplasm NA PE2 11 +NX_Q6B0I6 523 58603 9.28 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q6B0K9 141 15618 6.12 0 NA NA PE1 16 +NX_Q6B8I1 188 20658 7.08 0 Cytoplasm NA PE1 10 +NX_Q6B9Z1 124 13885 6.06 0 Cytosol;Secreted NA PE2 19 +NX_Q6BAA4 426 46904 9.16 0 Cytoplasm;Endoplasmic reticulum;Cytosol NA PE1 1 +NX_Q6BCY4 276 31458 8.49 0 Nucleoplasm;Golgi apparatus NA PE1 11 +NX_Q6BDI9 236 26571 6.89 0 Early endosome membrane NA PE1 12 +NX_Q6BDS2 1440 159485 5.75 0 Cytoplasm;Cytosol;Nucleus membrane;Nucleoplasm NA PE1 6 +NX_Q6BEB4 398 41964 9.43 0 Nucleolus;Nucleus;Nucleus NA PE1 2 +NX_Q6DCA0 310 34499 9.18 0 Nucleus;Cytosol NA PE1 2 +NX_Q6DD87 383 40543 8.08 0 Nucleus;Mitochondrion;Nucleus;Nucleolus NA PE1 19 +NX_Q6DD88 541 60542 5.43 2 Endoplasmic reticulum membrane;Endoplasmic reticulum Neuropathy, hereditary sensory, 1F PE1 11 +NX_Q6DHV5 1058 122955 6.68 0 Nucleolus NA PE2 10 +NX_Q6DHV7 355 40264 5.89 0 Cytoskeleton NA PE1 15 +NX_Q6DHY5 549 62231 9.2 0 Cell membrane NA PE2 17 +NX_Q6DJT9 500 55909 8.84 0 Nucleus;Nucleus speckle NA PE1 8 +NX_Q6DKI1 246 28661 10.51 0 Nucleolus;Mitochondrion NA PE1 6 +NX_Q6DKI2 356 39607 9.36 0 NA NA PE1 17 +NX_Q6DKI7 326 34344 9.27 3 Cell membrane;Nucleolus;Endoplasmic reticulum NA PE1 7 +NX_Q6DKJ4 435 48392 4.88 0 Cytosol;Cytosol;Nucleus;Golgi apparatus NA PE1 17 +NX_Q6DKK2 380 42457 5.57 0 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex III deficiency, nuclear 2 PE1 17 +NX_Q6DN03 193 21472 10.7 0 Chromosome;Nucleus NA PE5 1 +NX_Q6DN12 878 99596 7.48 2 Nucleoplasm;Cytosol;Membrane NA PE1 15 +NX_Q6DN14 999 111624 8.39 2 Cytosol;Synaptic vesicle membrane;Nucleoplasm;Recycling endosome;Endoplasmic reticulum membrane NA PE1 5 +NX_Q6DN72 434 47748 7.53 1 Cell membrane NA PE1 1 +NX_Q6DN90 963 108314 6.49 0 Cytoplasm;Nucleus;Nucleolus;Cytoplasmic vesicle NA PE1 3 +NX_Q6DRA6 164 18018 10.6 0 Nucleus;Chromosome NA PE5 1 +NX_Q6DT37 1551 172459 5.91 0 Cytoplasm;Cytosol NA PE1 11 +NX_Q6DWJ6 353 40679 9.43 7 Cell membrane NA PE2 16 +NX_Q6E0U4 476 47082 6.8 0 Secreted;Nucleoplasm;Cytosol NA PE1 19 +NX_Q6E213 333 38094 9.42 3 Endoplasmic reticulum membrane NA PE1 X +NX_Q6EBC2 164 18205 5.28 0 Secreted NA PE1 12 +NX_Q6ECI4 717 82650 8.91 0 Nucleus;Nucleoplasm;Nucleus NA PE1 19 +NX_Q6EEV4 148 15131 8.68 0 NA NA PE1 15 +NX_Q6EEV6 95 10685 6.57 0 NA NA PE1 6 +NX_Q6EIG7 209 23998 5.86 1 Membrane NA PE1 12 +NX_Q6EKJ0 949 107233 5.62 0 Nucleus NA PE1 7 +NX_Q6EMB2 1281 143577 8.82 0 Nucleus envelope;Cell membrane;Cytosol;Cilium basal body;Nucleus;Cytoplasm;Cilium Cone-rod dystrophy 19 PE1 14 +NX_Q6EMK4 673 71713 7.16 1 Membrane;Secreted NA PE1 16 +NX_Q6F5E7 133 14331 8.23 0 NA NA PE2 3 +NX_Q6F5E8 1435 154689 6.31 0 Cytoplasm;Cell membrane;Cytoskeleton;Lamellipodium;Ruffle NA PE1 16 +NX_Q6FHJ7 346 39827 9.12 0 Secreted Pyle disease PE1 7 +NX_Q6FI13 130 14095 10.9 0 Nucleus;Chromosome NA PE1 1 +NX_Q6FI81 312 33582 5.44 0 Cytoplasm;Mitochondrion;Cytoplasm;Nucleus;Mitochondrion;Mitochondrion intermembrane space NA PE1 16 +NX_Q6FIF0 208 22555 6.87 0 Cytoplasm NA PE1 15 +NX_Q6GMR7 532 58304 9.2 1 Membrane NA PE1 X +NX_Q6GMV1 187 21132 4.96 0 NA NA PE2 3 +NX_Q6GMV2 418 47341 4.98 0 Mitochondrion NA PE1 2 +NX_Q6GMV3 140 15805 9.2 0 Nucleoplasm NA PE1 2 +NX_Q6GPH4 301 34626 8.57 0 Mitochondrion;Cytoplasm;Cytoplasm;Nucleus;Mitochondrion;Nucleus NA PE1 17 +NX_Q6GPH6 555 63395 6 1 Membrane NA PE1 2 +NX_Q6GPI1 263 27923 7.98 0 Extracellular space NA PE1 16 +NX_Q6GQQ9 843 92526 6.27 0 Nucleus;Cytoplasm;Nucleoplasm;Cytoskeleton NA PE1 1 +NX_Q6GTS8 502 55741 6.2 0 Secreted NA PE1 1 +NX_Q6GTX8 287 31412 5.4 1 Cell membrane;Cell membrane NA PE1 19 +NX_Q6GV28 225 25828 8.4 4 Acrosome membrane NA PE2 11 +NX_Q6GYQ0 2036 229832 5.79 0 Cytoplasm;Mitochondrion;Cytosol;Nucleus NA PE1 14 +NX_Q6H3X3 334 37106 6.88 1 Cytoplasmic vesicle;Cell membrane;Endoplasmic reticulum;Secreted NA PE1 6 +NX_Q6H8Q1 611 67812 8.29 0 Nucleoplasm;Mitochondrion;Cytoplasm NA PE1 4 +NX_Q6H9L7 571 63906 4.7 0 Nucleoplasm;Secreted NA PE1 14 +NX_Q6HA08 431 45936 7.67 0 Cytoplasm;Secretory vesicle;Cell membrane;Cytoplasmic granule NA PE1 2 +NX_Q6I9Y2 204 23743 5.47 0 Cytosol;Nucleus speckle;Nucleus speckle;Nucleus;Cytoplasm NA PE1 3 +NX_Q6IA17 410 45679 6.02 1 Membrane;Nucleolus;Cytosol NA PE1 11 +NX_Q6IA69 706 79285 6.02 0 Cytosol NA PE1 11 +NX_Q6IA86 826 92500 5.6 0 Cytosol;Nucleus;Cytoplasm;Nucleus Mental retardation, autosomal recessive 48 PE1 18 +NX_Q6IAA8 161 17745 5.01 0 Cell membrane;Cell membrane;Golgi apparatus;Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane NA PE1 11 +NX_Q6IAN0 325 35119 9.59 1 Cytosol;Endoplasmic reticulum membrane;Cell junction;Cell membrane NA PE1 17 +NX_Q6IB77 296 33924 8.38 0 Mitochondrion NA PE1 11 +NX_Q6IBS0 349 39548 6.37 0 Cytoskeleton;Perinuclear region;Stereocilium;Cell membrane NA PE1 3 +NX_Q6IBW4 605 68227 4.66 0 Nucleoplasm;Cytoskeleton;Nucleus;Chromosome NA PE1 22 +NX_Q6IC83 251 27691 5.02 0 NA NA PE2 22 +NX_Q6IC98 578 66408 8.98 3 Mitochondrion membrane NA PE1 22 +NX_Q6ICB0 168 18263 4.86 0 Cytosol;Cytoskeleton;Nucleus;Cytoplasm NA PE1 22 +NX_Q6ICB4 259 28338 6.66 0 Early endosome;Recycling endosome;trans-Golgi network;Clathrin-coated vesicle NA PE1 22 +NX_Q6ICC9 239 26154 11.18 0 Nucleus speckle;Cytosol NA PE1 22 +NX_Q6ICG6 404 45794 8.06 0 Nucleus membrane;Mitochondrion NA PE1 22 +NX_Q6ICG8 309 31909 7.66 0 NA NA PE1 22 +NX_Q6ICH7 369 41699 7.47 1 Membrane NA PE1 22 +NX_Q6ICI0 200 21740 8.82 4 Membrane NA PE2 22 +NX_Q6ICL3 276 30937 5.04 0 Golgi apparatus Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration PE1 22 +NX_Q6ICL7 350 36747 9.66 8 Cytosol;Membrane NA PE1 22 +NX_Q6IE36 1432 161251 5.16 0 Secreted NA PE2 12 +NX_Q6IE37 1185 134499 5.17 0 Secreted NA PE2 12 +NX_Q6IE38 97 11057 9.17 0 Secreted NA PE3 5 +NX_Q6IE81 842 95533 8.2 0 Cytoplasm;Nucleus;Cilium basal body;Mitochondrion NA PE1 4 +NX_Q6IED9 249 27571 9.67 0 NA NA PE5 7 +NX_Q6IEE7 984 107094 5.58 1 Membrane NA PE1 17 +NX_Q6IEE8 588 67096 8.34 1 Membrane NA PE2 17 +NX_Q6IEG0 339 39965 6.49 0 Nucleoplasm;Nucleus;Cytosol NA PE1 6 +NX_Q6IEU7 315 35592 8.56 7 Cell membrane NA PE2 11 +NX_Q6IEV9 310 35003 9.11 7 Cell membrane NA PE2 11 +NX_Q6IEY1 312 35074 9.04 7 Cell membrane NA PE2 1 +NX_Q6IEZ7 315 35595 8.71 7 Cell membrane NA PE3 1 +NX_Q6IF00 324 36228 9.03 7 Cell membrane NA PE2 1 +NX_Q6IF36 304 33950 7.11 7 Cell membrane NA PE5 11 +NX_Q6IF42 318 35820 8.74 7 Cell membrane NA PE2 7 +NX_Q6IF63 320 34414 9.04 7 Cell membrane NA PE2 11 +NX_Q6IF82 309 34760 8.77 7 Cell membrane NA PE3 11 +NX_Q6IF99 312 35029 8.92 7 Cell membrane NA PE3 1 +NX_Q6IFG1 317 35913 9.4 7 Cell membrane NA PE2 11 +NX_Q6IFH4 312 35029 8.41 7 Cell membrane NA PE2 2 +NX_Q6IFN5 339 38279 7.14 7 Cell membrane NA PE2 19 +NX_Q6IMI4 303 34919 6.01 0 Cytoplasm NA PE2 2 +NX_Q6IMI6 304 35889 6.43 0 Cytoplasm NA PE1 2 +NX_Q6IMN6 1127 125925 6.28 0 Cytoplasm;Centrosome;Cell membrane;Mitochondrion;Nucleus;Cytosol NA PE1 12 +NX_Q6IN84 353 38638 8.15 0 Mitochondrion;Mitochondrion NA PE1 17 +NX_Q6IN85 833 95368 4.83 0 Nucleus;Centrosome;Nucleoplasm;Cytoplasm NA PE1 14 +NX_Q6IN97 320 35161 5.87 0 NA NA PE5 10 +NX_Q6IPM2 695 77298 9.15 0 Mitochondrion;Cytoplasm;Nucleoplasm;Cilium membrane;Cytosol NA PE1 7 +NX_Q6IPR1 90 10864 9.92 0 Mitochondrion;Microtubule organizing center NA PE1 12 +NX_Q6IPR3 259 29794 7.59 0 Cytosol;Cell membrane NA PE1 1 +NX_Q6IPT2 247 27609 8.86 0 Nucleolus NA PE1 19 +NX_Q6IPT4 315 35892 5.05 0 Nucleoplasm NA PE2 1 +NX_Q6IPU0 288 33165 5.9 0 Nucleolus;Nucleus;Centromere;Nucleus NA PE1 9 +NX_Q6IPW1 123 13249 11.73 0 Nucleoplasm NA PE2 11 +NX_Q6IPX1 549 62187 9.24 0 Cell membrane NA PE2 17 +NX_Q6IPX3 200 22298 5.15 0 Nucleus NA PE1 X +NX_Q6IQ16 392 44647 6.99 0 Cytoplasmic vesicle;Nucleus NA PE1 2 +NX_Q6IQ19 270 30216 7.7 0 Nucleoplasm;Spindle;Cytoskeleton;Cilium basal body;Cilium axoneme;Centriole;Cytoskeleton;Axon;Cilium;Centrosome NA PE1 1 +NX_Q6IQ20 393 45596 5.71 0 Cytosol;Membrane NA PE1 7 +NX_Q6IQ21 691 80007 9.64 0 Nucleus NA PE1 15 +NX_Q6IQ22 244 27248 8.68 0 Cytoplasmic vesicle;Recycling endosome membrane;Lysosome membrane;Golgi apparatus membrane;Autophagosome NA PE1 18 +NX_Q6IQ23 1121 127135 9.39 0 Cell junction;Cytosol;Adherens junction;Cytoplasm;Centrosome NA PE1 11 +NX_Q6IQ26 1287 147096 6.21 0 Golgi apparatus;Golgi apparatus membrane;Cytoplasmic vesicle Epileptic encephalopathy, early infantile, 49 PE1 11 +NX_Q6IQ32 1131 122833 9.3 0 Mitochondrion;Cytosol;Nucleus NA PE1 18 +NX_Q6IQ49 451 49742 5.77 0 Golgi apparatus;Cytosol;Nucleus speckle;Cell membrane NA PE1 1 +NX_Q6IQ55 1244 137412 6.54 0 Centriole;Cilium basal body;Cytosol;Nucleus;Cilium Spinocerebellar ataxia 11 PE1 15 +NX_Q6IS14 154 16773 4.85 0 Cytoplasm;Nucleus;Endoplasmic reticulum membrane;Nuclear pore complex NA PE2 10 +NX_Q6IS24 598 67751 9.07 1 Nucleus;Nucleolus;Golgi apparatus;Golgi apparatus membrane;Nucleus NA PE1 7 +NX_Q6ISB3 625 71105 6.06 0 Nucleoplasm;Nucleus;Membrane Deafness, autosomal dominant, 28;Ectodermal dysplasia/short stature syndrome PE1 8 +NX_Q6ISS4 152 16280 5.13 0 Secreted NA PE1 19 +NX_Q6ISU1 281 29266 6.58 1 Membrane NA PE1 6 +NX_Q6IV72 752 87721 9.43 0 Nucleus;Nucleus;Cytoplasm NA PE1 7 +NX_Q6IWH7 933 105532 8.11 8 Cell membrane;Cell junction;Endoplasmic reticulum;Cytosol NA PE1 2 +NX_Q6J272 317 36165 7.68 0 NA NA PE1 9 +NX_Q6J4K2 584 64231 8.32 13 Mitochondrion inner membrane NA PE1 12 +NX_Q6J9G0 422 47577 7.1 1 Cell membrane;Golgi apparatus;Membrane;Nucleus;Cell membrane NA PE1 12 +NX_Q6JBY9 416 44504 5.34 0 Nucleoplasm;Cell membrane NA PE1 1 +NX_Q6JEL2 608 68942 5.47 0 Cytoplasm Spermatogenic failure 11 PE1 17 +NX_Q6JQN1 1059 118834 8.33 0 NA NA PE1 12 +NX_Q6JVE5 192 21500 5.48 0 Secreted NA PE2 9 +NX_Q6JVE6 187 20759 10.36 0 Secreted NA PE1 9 +NX_Q6JVE9 175 19080 6.83 0 Secreted NA PE2 9 +NX_Q6K0P9 492 55065 9.82 0 Nucleoplasm;Nucleus speckle;Nucleus NA PE1 1 +NX_Q6KB66 452 50525 5.58 0 Cytoskeleton NA PE1 12 +NX_Q6KC79 2804 316051 8.09 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle Cornelia de Lange syndrome 1 PE1 5 +NX_Q6KCM7 469 52663 8.54 6 Mitochondrion;Cytoplasmic vesicle;Mitochondrion inner membrane NA PE1 9 +NX_Q6KF10 455 50662 9.1 0 Secreted Microphthalmia, isolated, 4;Klippel-Feil syndrome 1, autosomal dominant;Leber congenital amaurosis 17 PE1 8 +NX_Q6L8G4 156 14610 8.16 0 NA NA PE1 11 +NX_Q6L8G5 202 17984 8.19 0 NA NA PE2 11 +NX_Q6L8G8 165 15150 8.05 0 NA NA PE1 11 +NX_Q6L8G9 129 11784 8.18 0 NA NA PE1 11 +NX_Q6L8H1 288 25249 8.38 0 NA NA PE1 11 +NX_Q6L8H2 238 22106 8.32 0 NA NA PE1 11 +NX_Q6L8H4 278 24194 8.39 0 NA NA PE1 11 +NX_Q6L8Q7 609 67352 6.11 0 Mitochondrion matrix NA PE1 3 +NX_Q6L9T8 149 16688 6.27 0 NA NA PE2 1 +NX_Q6L9W6 998 114975 7.07 1 Golgi apparatus;Cytoplasmic vesicle;Golgi stack membrane NA PE1 12 +NX_Q6MZM0 1159 131603 6.27 1 Membrane NA PE1 11 +NX_Q6MZM9 219 22720 4.82 0 Endoplasmic reticulum;Secreted NA PE1 4 +NX_Q6MZN7 132 14098 7.83 0 NA NA PE2 6 +NX_Q6MZP7 749 79494 9.22 0 Nucleus;Cytosol NA PE1 4 +NX_Q6MZQ0 368 40836 6.28 0 Cytosol;Cytoskeleton NA PE1 11 +NX_Q6MZT1 257 28962 8.79 0 Nucleus;Cytoplasm;Cell membrane NA PE1 5 +NX_Q6MZW2 842 93096 5.88 0 Mitochondrion;Secreted NA PE1 5 +NX_Q6MZZ7 669 76696 7.01 0 Nucleoplasm NA PE1 2 +NX_Q6N021 2002 223811 8.22 0 Nucleoplasm Polycythemia vera;Myelodysplastic syndrome PE1 4 +NX_Q6N022 2769 307957 6.1 1 Cell membrane;Cell projection;Nucleus;Cytoplasm Tremor, hereditary essential 5 PE1 11 +NX_Q6N043 979 109285 8.51 0 Cytoplasm;Nucleus;Centrosome;Nucleoplasm;Golgi apparatus;Cytosol NA PE1 15 +NX_Q6N063 350 38996 5.45 0 Nucleus;Nucleoplasm NA PE1 12 +NX_Q6N069 864 101462 8.06 0 Cytosol NA PE1 13 +NX_Q6N075 450 49765 7.96 12 Golgi apparatus;Cell membrane NA PE1 12 +NX_Q6NS38 261 29322 9.68 0 Nucleus;Nucleus NA PE1 12 +NX_Q6NSI1 321 35437 5.23 0 NA NA PE5 16 +NX_Q6NSI3 398 42585 9.21 0 Nucleus;Nucleoplasm NA PE1 4 +NX_Q6NSI4 855 97554 8.65 0 Cytoskeleton;Chromosome NA PE1 X +NX_Q6NSI8 718 82007 6.5 0 Nucleolus;Nucleus NA PE1 2 +NX_Q6NSJ0 714 81087 8.6 1 Mitochondrion;Nucleus membrane;Endoplasmic reticulum membrane NA PE1 9 +NX_Q6NSJ2 640 71912 6.16 0 Nucleus speckle;Cell membrane;Cytosol NA PE1 19 +NX_Q6NSJ5 796 90247 6.52 4 Endoplasmic reticulum;Cell membrane;Endoplasmic reticulum membrane NA PE1 19 +NX_Q6NSW5 357 40514 6.09 0 NA NA PE5 X +NX_Q6NSW7 305 34615 6.11 0 Nucleus NA PE5 15 +NX_Q6NSX1 233 28767 5.7 0 Cell membrane;Secreted NA PE1 13 +NX_Q6NSZ9 544 61474 7.82 0 Nucleus;Nucleus;Nucleolus NA PE1 7 +NX_Q6NT04 549 63236 8.91 0 Cytosol;Nucleus;Cell membrane NA PE1 16 +NX_Q6NT16 456 48869 5.15 12 Golgi apparatus;Cytosol;Membrane NA PE1 6 +NX_Q6NT32 575 63926 5.98 0 Secreted NA PE1 16 +NX_Q6NT46 116 12785 4.37 0 NA NA PE1 X +NX_Q6NT52 195 21221 8.78 0 Secreted NA PE1 19 +NX_Q6NT55 531 61958 8.95 0 Endoplasmic reticulum membrane;Microsome membrane Ichthyosis, congenital, autosomal recessive 5 PE1 19 +NX_Q6NT76 420 47278 5.72 0 Nucleus;Cytosol;Nucleus;Cytoplasm;Nucleoplasm NA PE1 8 +NX_Q6NT89 227 23482 11.43 0 Nucleus NA PE2 1 +NX_Q6NTE8 343 37743 8.98 0 Cytosol;Nucleoplasm;Cell membrane;Nucleus NA PE1 5 +NX_Q6NTF7 200 23531 9.02 0 P-body;Cytoplasm;Nucleus NA PE1 22 +NX_Q6NTF9 364 39202 9.48 5 Golgi apparatus;cis-Golgi network membrane NA PE1 7 +NX_Q6NUI1 221 23810 6.67 0 Cell membrane;Nucleus NA PE5 17 +NX_Q6NUI2 795 87835 7.74 2 Mitochondrion;Mitochondrion outer membrane NA PE1 2 +NX_Q6NUI6 762 82388 9.2 0 Extracellular matrix;Secreted NA PE1 22 +NX_Q6NUJ1 521 56627 7.12 0 Secreted;Cytosol NA PE1 4 +NX_Q6NUJ2 197 20623 9.85 1 Membrane NA PE1 11 +NX_Q6NUJ5 590 63967 8.52 0 Nucleoplasm NA PE1 10 +NX_Q6NUK1 477 53354 6 6 Mitochondrion inner membrane;Mitochondrion NA PE1 1 +NX_Q6NUK4 255 29264 9.57 3 Endoplasmic reticulum membrane NA PE1 10 +NX_Q6NUM6 668 76916 5.86 0 NA NA PE2 7 +NX_Q6NUM9 610 66820 8.54 0 Endoplasmic reticulum membrane;Nucleolus NA PE1 2 +NX_Q6NUN0 579 64760 8.69 0 Mitochondrion matrix NA PE1 16 +NX_Q6NUN7 778 88569 9.28 0 Golgi apparatus;Nucleoplasm NA PE2 11 +NX_Q6NUN9 644 69136 6.41 0 Cytoplasm;Nucleus NA PE1 7 +NX_Q6NUP7 873 99452 7.96 0 Cytosol;Cytoplasm NA PE1 14 +NX_Q6NUQ1 792 90632 5.29 0 Cytoplasm;Endoplasmic reticulum membrane;Golgi apparatus NA PE1 7 +NX_Q6NUQ4 689 77151 9.28 2 Endoplasmic reticulum membrane;Golgi apparatus;Endoplasmic reticulum;Cytosol NA PE1 2 +NX_Q6NUR6 42 5133 5.4 0 NA NA PE5 7 +NX_Q6NUS6 607 66157 8.6 1 Endoplasmic reticulum;Cytoskeleton;Membrane Orofaciodigital syndrome 4;Joubert syndrome 18 PE1 10 +NX_Q6NUS8 523 59151 8.2 1 Cytosol;Cytoplasmic vesicle;Membrane NA PE1 5 +NX_Q6NUT2 758 87374 9.24 11 Mitochondrion;Nucleus;Membrane Spermatogenic failure 9 PE1 12 +NX_Q6NUT3 480 52075 8.67 12 Mitochondrion;Nucleoplasm;Membrane NA PE1 19 +NX_Q6NV74 962 102157 8.14 0 Cytoskeleton;Centrosome;Cytoskeleton NA PE1 2 +NX_Q6NV75 609 65361 7.9 7 Cell membrane NA PE2 1 +NX_Q6NVH7 229 24311 5.09 0 Nucleus NA PE1 19 +NX_Q6NVU6 142 15060 5.9 0 NA NA PE1 7 +NX_Q6NVV0 33 3805 3.31 0 NA NA PE5 12 +NX_Q6NVV1 102 12135 10.76 0 NA NA PE5 14 +NX_Q6NVV3 410 44638 5.68 9 Membrane;Golgi apparatus NA PE1 4 +NX_Q6NVV7 123 13877 8.34 0 Cytosol;Nucleus NA PE1 22 +NX_Q6NVV9 412 47181 6.34 0 NA NA PE5 8 +NX_Q6NVY1 386 43482 8.38 0 Nucleoplasm;Mitochondrion;Mitochondrion 3-hydroxyisobutryl-CoA hydrolase deficiency PE1 2 +NX_Q6NW29 188 21251 5.24 0 Cytoskeleton NA PE1 4 +NX_Q6NW34 567 64552 9.79 0 Nucleus;Nucleus;Nucleolus;Nucleolus NA PE1 3 +NX_Q6NW40 437 47547 5.92 0 Nucleoplasm;Cell membrane;Membrane raft NA PE1 5 +NX_Q6NWY9 871 99358 6.39 0 Cytosol;Nucleus;Nucleus speckle;Nucleoplasm NA PE1 12 +NX_Q6NX45 483 55068 8.72 0 Cytoskeleton;Cytosol;Nucleus NA PE1 15 +NX_Q6NX49 715 81742 8.15 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q6NXE6 501 54142 5.83 0 Cytosol NA PE1 19 +NX_Q6NXG1 681 75585 6.24 0 Nucleoplasm;Nucleus;Nucleus NA PE1 8 +NX_Q6NXN4 242 28036 9.85 3 Membrane NA PE2 7 +NX_Q6NXP0 572 66551 9.51 0 NA NA PE1 3 +NX_Q6NXP2 309 34516 6.15 0 Nucleoplasm NA PE2 7 +NX_Q6NXP6 359 39880 6.2 0 NA NA PE1 14 +NX_Q6NXR0 463 50288 5.22 0 NA NA PE1 19 +NX_Q6NXR4 508 56915 6.63 0 Centrosome Mental retardation, autosomal recessive 39 PE1 8 +NX_Q6NXS1 205 23048 4.82 0 NA NA PE1 5 +NX_Q6NXT1 300 32505 5.84 0 Cytoskeleton;Midbody;Cytoplasm;Midbody;Nucleus;Nucleoplasm NA PE1 22 +NX_Q6NXT2 135 15214 11.11 0 Chromosome;Nucleus NA PE1 12 +NX_Q6NXT4 461 51116 9.28 6 Golgi apparatus;trans-Golgi network membrane NA PE1 2 +NX_Q6NXT6 567 64260 8.56 5 Cytoplasmic vesicle;Centrosome;Cilium basal body;Membrane Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type PE1 4 +NX_Q6NY19 840 88425 5.17 0 Cell membrane NA PE1 19 +NX_Q6NYC1 403 46462 8.84 0 Nucleoplasm;Nucleoplasm;Nucleolus NA PE1 17 +NX_Q6NYC8 613 67943 5.38 0 Cytoskeleton;Cell membrane;Nucleoplasm NA PE1 6 +NX_Q6NZ36 180 19869 6.9 0 Nucleoplasm;Nucleus;Nucleus;Cell junction;Chromosome NA PE1 1 +NX_Q6NZ63 245 28815 8.82 4 Membrane NA PE2 7 +NX_Q6NZ67 158 16226 10.16 0 Cytoplasm;Centrosome;Spindle NA PE1 2 +NX_Q6NZI2 390 43476 5.51 0 Cytoplasmic vesicle;Cell membrane;Cell membrane;Microsome;Endoplasmic reticulum;Cytosol;Mitochondrion;Nucleus;Caveola Congenital generalized lipodystrophy 4 PE1 17 +NX_Q6NZY4 707 78577 4.8 0 Nucleoplasm;Nucleus;Nucleus;Nucleoplasm NA PE1 12 +NX_Q6NZY7 148 15207 6.9 0 Endomembrane system;Cytoskeleton NA PE1 19 +NX_Q6P047 294 33735 7.74 0 Nucleoplasm NA PE1 8 +NX_Q6P050 247 27269 9.99 0 Nucleolus;Cytosol;Z line NA PE1 15 +NX_Q6P087 351 38461 10.33 0 Nucleus;Mitochondrion matrix NA PE1 3 +NX_Q6P093 401 46099 7.2 0 Secreted NA PE2 3 +NX_Q6P0A1 224 25167 4.95 1 Membrane NA PE1 11 +NX_Q6P0N0 1132 129085 9.31 0 Cytosol;Nucleolus;Chromosome;Centromere;Nucleus NA PE1 14 +NX_Q6P0Q8 1798 196436 8.41 0 Cytosol;Cytoskeleton;Cell membrane NA PE1 1 +NX_Q6P158 1386 155604 7.83 0 Nucleolus;Cytoskeleton;Cytoskeleton;Cytosol NA PE1 2 +NX_Q6P161 138 15819 9.6 0 Mitochondrion;Mitochondrion NA PE1 19 +NX_Q6P179 960 110462 6.25 1 Mitochondrion;Endoplasmic reticulum membrane NA PE1 5 +NX_Q6P1A2 487 56035 8.88 9 Endoplasmic reticulum membrane NA PE1 12 +NX_Q6P1J6 1458 163081 5.57 1 Apical cell membrane;Cytosol NA PE1 2 +NX_Q6P1J9 531 60577 9.63 0 Cytosol;Nucleus;Nucleus Hyperparathyroidism 2 with jaw tumors;Parathyroid carcinoma;Hyperparathyroidism 1 PE1 1 +NX_Q6P1K1 146 16419 9.66 4 Cytoplasmic vesicle;Endosome membrane;Lysosome membrane NA PE1 12 +NX_Q6P1K2 205 23339 5.39 0 Nucleus;Nucleoplasm;Cytoplasmic vesicle;Kinetochore;Nucleus NA PE1 1 +NX_Q6P1K8 395 44452 6.13 0 Nucleus NA PE1 5 +NX_Q6P1L5 589 61968 9.86 0 Nucleus;Centrosome NA PE1 2 +NX_Q6P1L6 599 69220 9.19 0 Nucleoplasm;Nucleus NA PE1 20 +NX_Q6P1L8 145 15948 10.26 0 Mitochondrion;Mitochondrion NA PE1 6 +NX_Q6P1M0 643 72064 8.77 2 Cytoplasmic vesicle;Membrane;Endoplasmic reticulum membrane Ichthyosis prematurity syndrome PE1 9 +NX_Q6P1M3 1020 113448 7.22 0 Cytoplasmic vesicle;Cytoplasm;Cytosol NA PE1 17 +NX_Q6P1M9 558 62346 8.85 0 Cytosol;Nucleus speckle NA PE1 X +NX_Q6P1N0 951 104062 8.22 0 Nucleolus;Cell membrane;Cytosol;Cytoplasm;Nucleus;Centrosome Mental retardation, autosomal recessive 3 PE1 19 +NX_Q6P1N9 297 33602 6.51 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q6P1Q0 360 41790 10.32 1 Mitochondrion;Mitochondrion outer membrane;Nucleoplasm NA PE1 12 +NX_Q6P1Q9 378 43426 5.59 0 NA NA PE1 7 +NX_Q6P1R3 559 61319 5.86 0 Nucleoplasm;Nucleus NA PE1 11 +NX_Q6P1R4 473 53230 8.65 0 Cell membrane NA PE1 17 +NX_Q6P1S2 294 33765 9.85 1 Nucleoplasm;Cytosol;Membrane;Secreted NA PE1 3 +NX_Q6P1W5 598 65353 8.56 0 Cytosol;Nucleoplasm NA PE1 1 +NX_Q6P1X5 1199 136971 8.45 0 Nucleus Mental retardation, autosomal recessive 40 PE1 8 +NX_Q6P1X6 216 23889 9.36 0 Nucleus NA PE1 8 +NX_Q6P280 563 65865 8.54 0 Nucleoplasm;Nucleus NA PE1 19 +NX_Q6P2C0 686 77378 5.99 0 Cytoskeleton NA PE1 15 +NX_Q6P2C8 311 35432 9.37 0 Cytosol;Nucleolus;Nucleus;Nucleus NA PE1 9 +NX_Q6P2D0 407 47516 8.85 0 Nucleus;Nucleus NA PE1 16 +NX_Q6P2D8 792 89864 9.06 0 Nucleus;Nucleoplasm;Nucleus;Cytoplasm NA PE1 11 +NX_Q6P2E9 1401 151661 5.55 0 Cytosol;P-body;Nucleoplasm;Nucleus NA PE1 16 +NX_Q6P2H3 762 85639 5.68 0 Golgi apparatus;Cytosol;Nucleolus;Nucleolus;Centrosome;Spindle pole NA PE1 1 +NX_Q6P2H8 277 31630 8.81 1 Golgi apparatus;Focal adhesion;Membrane NA PE1 1 +NX_Q6P2I3 314 34613 7.64 0 NA NA PE1 2 +NX_Q6P2I7 272 30450 9.2 0 Nucleoplasm;Nucleus NA PE2 3 +NX_Q6P2M8 343 38500 6.28 0 Cell membrane;Cytoplasm;Nucleus;Golgi apparatus;Cytosol NA PE1 X +NX_Q6P2P2 845 94501 5.12 0 Nucleoplasm;Cytosol;Cytoskeleton;Cytoplasm NA PE1 4 +NX_Q6P2Q9 2335 273600 8.95 0 Nucleus speckle;Nucleoplasm Retinitis pigmentosa 13 PE1 17 +NX_Q6P2S7 1318 151684 8.53 0 Cytoplasm NA PE5 12 +NX_Q6P387 395 43418 8.79 0 Cytosol;Nucleoplasm NA PE2 16 +NX_Q6P3R8 708 81445 9.05 0 NA NA PE2 13 +NX_Q6P3S1 775 86552 5.54 0 Nucleus speckle;Cytosol;Cytosol;Clathrin-coated vesicle Asthma PE1 1 +NX_Q6P3S6 717 77839 7.07 0 Nucleoplasm NA PE1 1 +NX_Q6P3V2 769 87974 9.26 0 Nucleus NA PE1 19 +NX_Q6P3W2 148 17008 4.53 0 Cytoskeleton;Cytosol NA PE1 11 +NX_Q6P3W6 841 96426 4.63 0 Cytoplasm NA PE2 1 +NX_Q6P3W7 929 103709 8.45 0 Perinuclear region;Clathrin-coated vesicle;trans-Golgi network membrane;Endosome membrane NA PE1 12 +NX_Q6P3X3 843 96632 5.42 0 Mitochondrion;Nucleolus NA PE1 2 +NX_Q6P3X8 592 68011 8.82 0 Cytoplasmic vesicle NA PE1 1 +NX_Q6P435 159 17652 9.6 0 NA NA PE5 16 +NX_Q6P444 385 43384 6.53 0 Mitochondrion;Cytoplasmic vesicle NA PE1 6 +NX_Q6P461 480 53585 8.73 0 Mitochondrion NA PE2 10 +NX_Q6P474 469 51810 5.65 0 NA NA PE5 16 +NX_Q6P499 406 44742 8.1 9 Nucleoplasm;Membrane NA PE1 1 +NX_Q6P4A7 337 37998 9.3 5 Mitochondrion inner membrane;Cytoplasmic vesicle Combined oxidative phosphorylation deficiency 18 PE1 10 +NX_Q6P4A8 553 63255 9.11 0 Lysosome NA PE1 12 +NX_Q6P4D5 195 22522 9.92 0 Nucleoplasm NA PE1 X +NX_Q6P4E1 433 48864 5.54 1 Golgi apparatus;Membrane NA PE1 15 +NX_Q6P4F1 479 56094 8.62 1 Golgi apparatus;Golgi stack membrane;Endoplasmic reticulum;Nucleoplasm NA PE2 8 +NX_Q6P4F2 183 19521 5.2 0 Mitochondrion;Mitochondrion matrix NA PE1 19 +NX_Q6P4F7 1023 113866 9.19 0 Nucleolus;Cytosol NA PE1 15 +NX_Q6P4H8 233 26110 9.04 1 Cell membrane;Cytoplasm;Cytoplasmic vesicle;Nucleus;Membrane NA PE1 5 +NX_Q6P4I2 378 41685 5.46 0 Cytosol;Spindle;Spindle pole;Cleavage furrow Galloway-Mowat syndrome PE1 15 +NX_Q6P4Q7 775 86607 5.75 3 Cell membrane;Cell membrane;Cytoskeleton Jalili syndrome PE1 2 +NX_Q6P4R8 1299 139001 9.29 0 Nucleus;Nucleus NA PE1 11 +NX_Q6P531 493 50509 5.66 1 Membrane NA PE1 17 +NX_Q6P575 273 29908 6.54 0 NA NA PE5 22 +NX_Q6P582 158 16221 9.66 0 Cytoplasm;Centrosome;Spindle NA PE1 2 +NX_Q6P587 224 24843 6.96 0 Mitochondrion;Nucleus;Mitochondrion;Mitochondrion;Cytosol NA PE1 16 +NX_Q6P589 184 20556 8.54 0 Cytoplasmic vesicle NA PE1 1 +NX_Q6P597 504 55364 6.06 0 Cytosol;Nucleoplasm;Cytoskeleton;Cytoskeleton NA PE1 19 +NX_Q6P5Q4 547 61675 5.63 0 Sarcomere;Myofibril;M line;Cytoskeleton NA PE1 7 +NX_Q6P5R6 122 14607 9.37 0 NA NA PE1 3 +NX_Q6P5S2 330 37926 5.78 0 Secreted NA PE1 6 +NX_Q6P5S7 137 15420 9.21 2 Membrane NA PE1 17 +NX_Q6P5W5 647 68408 5.27 6 Recycling endosome membrane;Cell membrane Acrodermatitis enteropathica, zinc-deficiency type PE1 8 +NX_Q6P5X5 142 16805 8.22 0 Endoplasmic reticulum NA PE1 22 +NX_Q6P5X7 295 32983 6.06 2 Mitochondrion;Membrane NA PE2 8 +NX_Q6P5Z2 889 99421 8.77 0 Perinuclear region;Cytoplasmic vesicle;Nucleus NA PE1 9 +NX_Q6P656 301 34294 5.84 0 NA NA PE1 15 +NX_Q6P6B1 374 39936 4.46 0 Nucleoplasm;Golgi apparatus;Cytosol NA PE1 8 +NX_Q6P6B7 361 39284 6.82 0 Endoplasmic reticulum NA PE1 10 +NX_Q6P6C2 394 44256 9.19 0 Golgi apparatus;Nucleoplasm;Cytosol;Nucleus speckle NA PE1 17 +NX_Q6P7N7 255 28468 8.92 1 Membrane;Cytoskeleton NA PE2 1 +NX_Q6P988 496 55699 7.52 0 Secreted NA PE1 17 +NX_Q6P995 826 92181 8.79 1 Nucleus;Membrane;Mitochondrion NA PE1 2 +NX_Q6P996 788 86707 5.25 0 NA NA PE1 16 +NX_Q6P9A1 599 68837 9.01 0 Cytoplasmic vesicle;Nucleus NA PE1 19 +NX_Q6P9A2 607 69561 6.07 1 Golgi apparatus membrane;Mitochondrion NA PE1 11 +NX_Q6P9A3 640 74439 8.88 0 Nucleus;Nucleoplasm;Cytosol NA PE1 19 +NX_Q6P9B6 456 50994 5.81 0 Nucleolus;Membrane;Cytoplasm;Nucleus;Cytosol NA PE1 16 +NX_Q6P9B9 1019 107995 6.58 3 Cytoplasm;Nucleus membrane;Nucleus;Nucleus NA PE1 11 +NX_Q6P9F0 684 77748 5.73 0 Nucleoplasm;Cell membrane;Cytoplasm;Nucleus NA PE1 12 +NX_Q6P9F5 258 29336 7.54 0 NA NA PE1 6 +NX_Q6P9F7 803 92390 6.4 4 Nucleus speckle;Cell membrane;Endoplasmic reticulum membrane NA PE1 1 +NX_Q6P9G0 228 26689 5.37 0 Nucleolus;Golgi apparatus NA PE1 17 +NX_Q6P9G4 183 20498 4.5 1 Membrane;Nucleoplasm;Nucleus membrane NA PE1 4 +NX_Q6P9G9 518 59932 6.96 0 Nucleus;Nucleoplasm;Cytosol NA PE1 X +NX_Q6P9H4 555 61904 8.94 0 Cytosol;Mitochondrion NA PE1 6 +NX_Q6P9H5 292 32949 4.86 0 Cytosol;Nucleoplasm;Cytosol NA PE1 7 +NX_Q6PB30 78 8669 10.69 0 NA NA PE2 X +NX_Q6PCB0 445 46804 7.18 0 Basement membrane NA PE1 1 +NX_Q6PCB5 846 94870 8.91 0 Nucleus speckle;Cell membrane;Nucleus NA PE1 7 +NX_Q6PCB6 329 35831 5.42 0 NA NA PE1 15 +NX_Q6PCB7 646 71108 8.83 1 Cell membrane;Endomembrane system;Cytoplasm NA PE1 19 +NX_Q6PCB8 327 36881 6.13 1 Cell membrane;Synapse NA PE1 5 +NX_Q6PCD5 774 85094 6.02 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus;PML body NA PE1 16 +NX_Q6PCE3 622 70442 6.81 0 Mitochondrion NA PE1 11 +NX_Q6PCT2 694 75707 9.44 0 Cytoskeleton NA PE1 16 +NX_Q6PD62 1173 133502 6.32 0 Nucleoplasm;Nucleus speckle NA PE1 11 +NX_Q6PD74 315 34594 4.5 0 Cytoplasm;Cytosol;Cytosol;Nucleus speckle Keratoderma, palmoplantar, punctate 1A PE1 15 +NX_Q6PDA7 123 13842 10.54 0 Secreted NA PE2 8 +NX_Q6PDB4 577 66762 9.45 0 Cytoskeleton NA PE2 19 +NX_Q6PEV8 388 42801 4.95 0 Golgi apparatus;Cytosol;Nucleus NA PE1 X +NX_Q6PEW0 395 43832 6.22 0 Secreted NA PE1 16 +NX_Q6PEW1 402 45369 5.87 0 Nucleus NA PE1 X +NX_Q6PEX3 210 22554 8.03 0 NA NA PE1 21 +NX_Q6PEX7 206 23280 5.84 1 Membrane NA PE1 1 +NX_Q6PEY0 223 25860 8.91 4 Cell membrane;Gap junction NA PE2 6 +NX_Q6PEY1 159 17251 10.11 2 Cell membrane NA PE1 17 +NX_Q6PEY2 450 49859 5.01 0 Cytoskeleton NA PE1 2 +NX_Q6PEZ8 512 56539 9.91 0 Extracellular matrix NA PE1 19 +NX_Q6PF04 617 70143 9.17 0 Nucleus;Cytoplasmic vesicle;Nucleoplasm NA PE1 19 +NX_Q6PF05 361 40837 6.81 0 Spindle;Midbody;Centrosome NA PE1 5 +NX_Q6PF06 316 36124 7.05 0 Nucleoplasm;Cell membrane NA PE2 9 +NX_Q6PF15 583 62892 8.08 0 Nucleus;Nucleolus;Centrosome NA PE1 11 +NX_Q6PF18 240 27585 8.63 0 Nucleoplasm NA PE1 12 +NX_Q6PFW1 1433 159521 5.26 0 Cytosol;Cell membrane;Cytosol NA PE1 15 +NX_Q6PG37 636 74571 8.81 0 Nucleolus;Nucleus NA PE1 19 +NX_Q6PGN9 363 38796 11.21 0 Cytoplasm;Spindle;Nucleoplasm;Spindle pole;Cytosol NA PE1 1 +NX_Q6PGP7 1564 175486 7.47 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus Trichohepatoenteric syndrome 1 PE1 5 +NX_Q6PGQ1 229 25064 3.88 0 Cell membrane;Nucleus;Nucleolus NA PE1 22 +NX_Q6PGQ7 559 61203 4.8 0 Nucleolus;Nucleus NA PE1 13 +NX_Q6PH81 154 17799 10.09 0 Nucleoplasm NA PE1 16 +NX_Q6PH85 259 30179 5.7 0 Cytosol;Cell membrane NA PE1 13 +NX_Q6PHR2 472 53444 6.91 0 Cytoplasm NA PE1 15 +NX_Q6PHW0 289 33360 7.16 1 Cell membrane;Cell membrane;Cytoplasmic vesicle membrane Thyroid dyshormonogenesis 4 PE1 6 +NX_Q6PI25 160 18931 6.87 3 Endoplasmic reticulum membrane;Postsynaptic cell membrane;Dendrite;Dendritic spine;Postsynaptic density NA PE1 11 +NX_Q6PI26 577 65125 4.7 0 Cytosol;Nucleoplasm;Nucleoplasm NA PE1 3 +NX_Q6PI47 426 46739 9.23 0 Mitochondrion NA PE1 2 +NX_Q6PI48 645 73563 8.19 0 Mitochondrion;Nucleus;Mitochondrion matrix Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation PE1 1 +NX_Q6PI73 481 52399 7.67 1 Membrane NA PE1 19 +NX_Q6PI77 547 60291 7.51 0 Cytosol;Cytoplasm;Nucleus NA PE1 X +NX_Q6PI78 240 25498 8.9 3 Nucleoplasm;Cell membrane;Mitochondrion inner membrane NA PE1 8 +NX_Q6PI97 169 19340 8.9 0 NA NA PE1 11 +NX_Q6PI98 192 20643 10.03 0 Nucleolus;Nucleus NA PE1 18 +NX_Q6PID6 262 29411 5.32 0 Nucleoplasm;Golgi apparatus;Cytoplasmic vesicle NA PE1 5 +NX_Q6PID8 442 49098 9.47 0 Nucleus;Cytoplasm;Nucleoplasm NA PE1 7 +NX_Q6PIF2 218 24690 5.57 0 Nucleus;Nucleus NA PE1 19 +NX_Q6PIF6 2116 241599 8.82 0 Cytoskeleton;Microvillus NA PE1 2 +NX_Q6PII3 467 53958 6.04 0 Nucleus;Cytoplasm;Nucleolus;Nucleoplasm;Nucleus Hypotonia, infantile, with psychomotor retardation PE1 3 +NX_Q6PII5 290 31557 8.57 0 NA NA PE1 16 +NX_Q6PIJ6 1188 133944 5.92 0 Cytosol;Cytoplasm;Nucleus;Nucleoplasm;Cell membrane;Cytoskeleton Neuronopathy, distal hereditary motor, 2D PE1 5 +NX_Q6PIL6 250 28729 5.12 0 Endoplasmic reticulum;Cytoplasm;Cell membrane NA PE1 4 +NX_Q6PIS1 610 64531 7.24 12 Nucleus;Cell junction;Membrane NA PE2 2 +NX_Q6PIU1 500 56304 5.75 6 Cell membrane NA PE1 8 +NX_Q6PIU2 408 45808 6.76 1 Endoplasmic reticulum;Membrane;Microsome NA PE1 3 +NX_Q6PIV2 292 33310 9.3 0 Nucleus NA PE1 11 +NX_Q6PIV7 304 32224 9.28 6 Mitochondrion;Mitochondrion inner membrane NA PE2 1 +NX_Q6PIW4 674 74077 8.07 0 Cytoplasm;Perinuclear region;Nucleus NA PE1 7 +NX_Q6PIY5 440 48855 5.56 0 Cytosol NA PE1 1 +NX_Q6PIY7 484 56028 9.45 0 Cytosol;Cytoplasm;Nucleus NA PE1 5 +NX_Q6PIZ9 186 21211 5.23 1 Cell membrane NA PE1 3 +NX_Q6PJ21 355 39376 8.74 0 Mitochondrion NA PE1 16 +NX_Q6PJ61 603 64631 7.19 0 Cytosol;Nucleus;Cytoplasmic vesicle NA PE1 19 +NX_Q6PJ69 517 57353 6.26 0 Cytosol;Cytoplasmic vesicle;Nucleoplasm NA PE1 17 +NX_Q6PJE2 187 20620 6.81 0 NA NA PE2 7 +NX_Q6PJF5 856 96686 9.1 7 Endoplasmic reticulum membrane;Cell membrane Tylosis with esophageal cancer PE1 17 +NX_Q6PJG2 1045 114989 9.26 0 Nucleoplasm;Nucleus NA PE1 14 +NX_Q6PJG6 821 88119 5.11 0 Nucleoplasm;Nucleus;Cytoplasm Rigidity and multifocal seizure syndrome, lethal neonatal PE1 7 +NX_Q6PJG9 635 66860 6.44 1 Membrane NA PE1 11 +NX_Q6PJI9 974 109793 8.2 0 Cytosol;Lysosome membrane NA PE1 16 +NX_Q6PJP8 1040 116400 8.24 0 Nucleoplasm;Nucleus;Nucleolus NA PE1 10 +NX_Q6PJQ5 311 35924 4.92 0 Nucleus;Nucleoplasm;Nucleus NA PE1 X +NX_Q6PJT7 736 82876 6.99 0 Nucleus speckle;Nucleus speckle;Cytoplasm Mental retardation, autosomal recessive 56 PE1 14 +NX_Q6PJW8 725 79597 4.4 1 Cytoplasmic vesicle;Cell membrane;trans-Golgi network membrane;Secretory vesicle NA PE1 1 +NX_Q6PK04 289 33231 10.94 0 Nucleolus;Chromosome NA PE1 17 +NX_Q6PK18 319 35646 8.3 1 Nucleoplasm;Membrane NA PE1 17 +NX_Q6PK57 102 11596 4.82 0 NA NA PE5 15 +NX_Q6PK81 442 50502 9.18 0 Nucleus NA PE1 19 +NX_Q6PKC3 985 110529 6.11 1 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA PE1 16 +NX_Q6PKG0 1096 123510 8.91 0 Cytoplasm;Cytoplasmic granule;Cytoplasm;Cytosol;Endoplasmic reticulum;Nucleus NA PE1 5 +NX_Q6PKH6 230 24586 10.13 0 Secreted NA PE2 14 +NX_Q6PKX4 331 38318 8.72 0 Cytosol;Focal adhesion NA PE1 18 +NX_Q6PL18 1390 158554 5.94 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q6PL24 325 35740 4.61 0 NA NA PE1 14 +NX_Q6PL45 260 28486 6.98 2 Cytoskeleton;Membrane;Nucleoplasm NA PE1 16 +NX_Q6PML9 568 63515 8.6 5 Cytoplasm;Cytoplasmic vesicle;Endoplasmic reticulum;Membrane;Nucleus Birk-Landau-Perez syndrome PE1 4 +NX_Q6PP77 449 52052 8.46 10 Cell membrane NA PE2 X +NX_Q6PRD1 2367 257363 5.54 7 Cell membrane Night blindness, congenital stationary, 1E PE1 17 +NX_Q6PRD7 247 25959 9.73 0 Nucleus;Cytoplasm NA PE1 16 +NX_Q6PUV4 134 15394 5.06 0 Cytosol NA PE1 5 +NX_Q6PXP3 512 55728 8.68 12 Membrane NA PE2 1 +NX_Q6Q0C0 670 74609 6.77 0 Cytoplasmic vesicle;Cell membrane;Cytoplasmic vesicle NA PE1 16 +NX_Q6Q0C1 308 33435 9.39 6 Mitochondrion inner membrane NA PE2 14 +NX_Q6Q4G3 990 113283 5.42 1 Membrane NA PE1 5 +NX_Q6Q6R5 217 24088 8.98 0 Nucleus speckle;Cytoplasm NA PE2 6 +NX_Q6Q759 2223 251742 5.88 0 Flagellum axoneme;Cytoplasm;Nucleoplasm NA PE1 1 +NX_Q6Q788 366 41213 5.98 0 Secreted Hypertriglyceridemia, familial;Hyperlipoproteinemia 5 PE1 11 +NX_Q6Q795 121 13358 8.84 0 NA NA PE5 3 +NX_Q6Q8B3 271 29920 9.31 1 Membrane NA PE2 3 +NX_Q6QAJ8 160 17754 6.95 5 Membrane NA PE2 17 +NX_Q6QEF8 472 52762 5.63 0 Golgi apparatus NA PE1 17 +NX_Q6QHC5 323 37197 9.38 3 Endoplasmic reticulum membrane;Nucleus;Nucleolus NA PE1 14 +NX_Q6QHF9 649 70290 5.34 0 Cytoplasm;Centrosome;Peroxisome;Nucleoplasm NA PE1 10 +NX_Q6QHK4 219 24123 7.76 0 Nucleus Premature ovarian failure 6 PE1 2 +NX_Q6QN14 398 44690 6.86 0 Nucleus;Cytoplasm NA PE1 4 +NX_Q6QNK2 874 96530 8.02 7 Nucleus;Cytosol;Cell membrane NA PE1 12 +NX_Q6QNY0 202 21256 5.08 0 Golgi apparatus;Cytoplasm Hermansky-Pudlak syndrome 8 PE1 19 +NX_Q6QNY1 142 15961 4.78 0 Lysosome membrane;Centrosome NA PE1 10 +NX_Q6R2W3 1325 151666 6.29 0 Nucleus;Nucleolus;Golgi apparatus NA PE1 6 +NX_Q6R327 1708 192218 7.22 0 Mitochondrion NA PE1 5 +NX_Q6R6M4 530 59619 8.5 0 Nucleus;Endoplasmic reticulum NA PE1 8 +NX_Q6RFH5 385 42441 8.64 0 Nucleolus;Nucleus;Nucleolus NA PE1 11 +NX_Q6RFH8 374 39442 11.11 0 Nucleus NA PE1 4 +NX_Q6RI45 1802 203598 8.02 0 Cytosol;Nucleoplasm Mental retardation, X-linked 93 PE1 X +NX_Q6RSH7 139 15781 6.41 0 NA NA PE1 1 +NX_Q6RUI8 117 13085 8.49 0 Cell membrane NA PE2 19 +NX_Q6RVD6 105 11727 10.09 0 NA NA PE1 15 +NX_Q6RW13 159 17419 5.71 3 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA PE1 1 +NX_Q6S545 545 60965 7 0 NA NA PE2 22 +NX_Q6S5H4 581 65710 6.24 0 NA NA PE2 15 +NX_Q6S5H5 508 57096 6.66 0 NA NA PE2 14 +NX_Q6S5L8 630 68785 8.03 0 Postsynaptic cell membrane;Cytosol NA PE1 15 +NX_Q6S8J3 1075 121363 5.83 0 NA NA PE2 2 +NX_Q6S8J7 498 56166 6.01 0 NA NA PE2 8 +NX_Q6S9Z5 364 40315 9.59 0 NA NA PE2 5 +NX_Q6SA08 328 37454 8.78 0 Cell junction NA PE1 14 +NX_Q6SJ93 734 84674 8.83 0 Cytosol;Nucleus Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis PE1 11 +NX_Q6SJ96 375 41524 6.05 0 Cytoplasm;Nucleus NA PE1 14 +NX_Q6SPF0 538 56052 7.13 0 Cytoplasm;Secreted;Mitochondrion;Cytosol NA PE1 19 +NX_Q6STE5 483 55016 9.38 0 Nucleoplasm;Nucleus NA PE1 7 +NX_Q6SZW1 724 79388 6.14 0 Cytoplasmic vesicle;Dendrite;Synapse;Cytoplasm;Mitochondrion;Axon NA PE1 17 +NX_Q6T310 242 27006 9.05 0 Nucleus;Nucleolus NA PE1 13 +NX_Q6T311 187 20755 6.04 0 Mitochondrion;Nucleolus NA PE2 4 +NX_Q6T423 547 61008 7.53 12 Membrane NA PE2 11 +NX_Q6T4P5 718 76037 5.66 6 Cytosol;Membrane;Nucleoplasm;Golgi apparatus NA PE1 19 +NX_Q6T4R5 1651 179135 6.4 0 Cytoplasm;Apical cell membrane;Tight junction;Cell junction;Lamellipodium;Focal adhesion Nance-Horan syndrome;Cataract 40 PE1 X +NX_Q6TCH4 344 37989 8.22 7 Nucleus;Cell membrane;Nucleolus NA PE1 1 +NX_Q6TCH7 311 36217 8.84 7 Golgi apparatus membrane NA PE1 4 +NX_Q6TDP4 642 69874 7.64 0 Synapse;Postsynaptic density;Nucleoplasm;Nucleus NA PE2 1 +NX_Q6TDU7 716 83160 5.22 0 NA NA PE1 12 +NX_Q6TFL3 1326 152810 6.37 0 Nucleus NA PE1 9 +NX_Q6TFL4 600 68361 5.98 0 Adherens junction;Desmosome;Cytoplasm;Axon;Perikaryon Epidermolysis bullosa simplex, generalized, with scarring and hair loss PE1 3 +NX_Q6TGC4 694 77727 5.13 0 Nucleus;Cytoplasm Preimplantation embryonic lethality 2 PE1 1 +NX_Q6U736 354 39727 9.11 7 Membrane NA PE1 6 +NX_Q6U7Q0 402 46941 8.98 0 Nucleus;Cytoplasm;Cytosol;Centrosome;Nucleus NA PE1 6 +NX_Q6U841 1118 125946 6.05 12 Cell membrane NA PE1 2 +NX_Q6U949 168 18035 12.13 0 NA NA PE2 11 +NX_Q6UB28 335 37088 6.35 0 Cytoplasmic vesicle;Mitochondrion NA PE1 2 +NX_Q6UB35 978 105790 8.32 0 Mitochondrion;Mitochondrion NA PE1 6 +NX_Q6UB98 2062 235652 6.57 0 Cytosol;Nucleoplasm;Nucleus NA PE1 18 +NX_Q6UB99 2663 297913 6.7 0 Nucleus;Cytosol;Nucleoplasm KBG syndrome PE1 16 +NX_Q6UDR6 99 11421 9.4 0 Secreted NA PE2 20 +NX_Q6UE05 265 29433 7.67 3 Membrane NA PE1 7 +NX_Q6ULP2 937 102200 4.4 0 Cytosol;Cytoplasmic vesicle;Cytoplasm;Golgi apparatus NA PE1 2 +NX_Q6UN15 594 66526 5.42 0 Nucleus;Nucleus;Nucleoplasm NA PE1 4 +NX_Q6UQ28 207 23385 5.01 0 Apical cell membrane NA PE2 11 +NX_Q6URK8 271 30717 9.09 0 Secreted NA PE1 16 +NX_Q6UUV7 619 66959 6.35 0 Nucleus;Nucleoplasm;Cytosol;Cytoplasm NA PE1 15 +NX_Q6UUV9 634 67300 5.65 0 Nucleoplasm;Nucleus;Cytosol;Cell membrane;Cytoplasm;Nucleus NA PE1 19 +NX_Q6UVJ0 657 74397 7.26 0 Centriole;Centrosome;Cytosol;Microtubule organizing center Microcephaly 14, primary, autosomal recessive PE1 1 +NX_Q6UVK1 2322 250537 5.27 1 Cell membrane;Apical cell membrane;Lamellipodium membrane;Cell surface NA PE1 15 +NX_Q6UVM3 1135 130501 6.97 6 Cell membrane;Cytoplasmic vesicle NA PE1 1 +NX_Q6UVW9 174 19972 8.75 1 Cell membrane;Cell membrane NA PE1 12 +NX_Q6UVY6 613 69652 5.97 1 Cytosol;Nucleoplasm;Endoplasmic reticulum membrane NA PE1 6 +NX_Q6UW01 205 21521 6.58 0 Nucleus;Endoplasmic reticulum;cis-Golgi network;Secreted;Synapse NA PE1 14 +NX_Q6UW02 462 52432 5.84 1 Cytoskeleton;Cell junction;Cell membrane;Membrane NA PE1 2 +NX_Q6UW10 78 8396 7.01 0 Secreted;Secretory vesicle;Golgi apparatus NA PE1 6 +NX_Q6UW15 175 19330 6.7 0 Secreted;Cytoplasm NA PE1 2 +NX_Q6UW32 110 12363 8.22 0 Secreted NA PE1 19 +NX_Q6UW49 350 38931 5.53 0 Acrosome NA PE1 15 +NX_Q6UW56 229 24747 6.95 1 Cell membrane;Nucleus envelope;Cell membrane NA PE1 2 +NX_Q6UW60 755 82795 8.67 1 Membrane;Acrosome membrane NA PE1 19 +NX_Q6UW63 502 58043 7.59 0 Endoplasmic reticulum lumen;Nucleus NA PE1 13 +NX_Q6UW68 189 21198 8.91 4 Nucleoplasm;Nucleus membrane;Membrane;Endoplasmic reticulum NA PE1 19 +NX_Q6UW78 93 10081 9.39 1 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane;Cytosol Mitochondrial complex III deficiency, nuclear 9 PE1 11 +NX_Q6UW88 154 17091 6.5 1 Cytosol;Membrane;Nucleus membrane;Secreted;Nucleus NA PE1 4 +NX_Q6UWB1 636 69474 5.48 1 Cytosol;Cytoplasmic vesicle;Membrane NA PE1 19 +NX_Q6UWB4 352 38856 7.49 1 Membrane;Cytosol NA PE1 8 +NX_Q6UWD8 224 24360 5.97 1 Membrane NA PE1 16 +NX_Q6UWE0 723 83594 5.7 0 Cytosol;Cytoplasm Charcot-Marie-Tooth disease 2P PE1 9 +NX_Q6UWE3 100 10812 8.85 0 Secreted NA PE1 6 +NX_Q6UWF3 145 16618 5.21 1 Membrane;Membrane NA PE1 17 +NX_Q6UWF5 114 12886 6.56 2 Membrane NA PE4 6 +NX_Q6UWF7 544 62263 9.03 0 Secreted NA PE1 11 +NX_Q6UWF9 173 19733 8.59 0 Secreted NA PE1 7 +NX_Q6UWH4 519 57552 9.75 1 Golgi apparatus membrane;Nucleolus;Nucleoplasm;Golgi apparatus NA PE1 4 +NX_Q6UWH6 196 22538 6.56 5 Cytosol;Membrane;Nucleoplasm NA PE1 2 +NX_Q6UWI2 310 32289 4.59 1 Endosome;Cytoplasmic vesicle;Cytosol;Nucleus;Endosome membrane;Golgi apparatus membrane;Cell membrane NA PE1 4 +NX_Q6UWI4 295 31375 7.89 1 Nucleoplasm;Endoplasmic reticulum membrane;Nucleus;Cytoplasmic vesicle NA PE1 13 +NX_Q6UWJ1 677 75598 6.47 10 Cytosol;Membrane NA PE1 13 +NX_Q6UWJ8 174 18534 7 1 Membrane NA PE1 1 +NX_Q6UWK7 81 9173 10.54 0 Secreted NA PE1 10 +NX_Q6UWL2 747 82710 6.02 1 Nucleoplasm;Membrane NA PE1 9 +NX_Q6UWL6 708 75092 6.48 1 Nucleus;Cytoplasm;Cell membrane;Cytoplasmic vesicle NA PE1 19 +NX_Q6UWM5 242 27151 8.57 0 Membrane raft;Cell membrane;Acrosome NA PE1 12 +NX_Q6UWM7 567 65088 8.17 1 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum NA PE1 15 +NX_Q6UWM9 527 60254 8.15 1 Membrane NA PE1 4 +NX_Q6UWN0 246 26763 8.76 0 Cell membrane NA PE1 19 +NX_Q6UWN5 251 26936 6.98 0 Cytosol;Nucleoplasm;Cell membrane NA PE1 19 +NX_Q6UWN8 80 8585 8.74 0 Secreted NA PE1 5 +NX_Q6UWP2 260 28308 6.17 0 Golgi apparatus;Cytosol;Secreted NA PE1 17 +NX_Q6UWP7 414 48920 8.83 4 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cytosol NA PE1 2 +NX_Q6UWP8 590 60541 6.5 0 Cytoplasmic vesicle;Secreted NA PE1 19 +NX_Q6UWQ5 148 16654 8.35 0 Secreted NA PE2 10 +NX_Q6UWQ7 119 13248 7.4 0 Nucleoplasm;Secreted;Cell membrane NA PE2 19 +NX_Q6UWR7 440 50241 8.07 0 Golgi apparatus;Cell membrane NA PE1 4 +NX_Q6UWS5 81 9223 10.1 0 Mitochondrion NA PE1 20 +NX_Q6UWT2 76 7927 5.38 0 Secreted NA PE2 9 +NX_Q6UWT4 87 9693 4.67 0 Secreted;Mitochondrion;Nucleus speckle NA PE1 5 +NX_Q6UWU2 654 74158 9.01 0 Secreted NA PE1 2 +NX_Q6UWU4 347 39870 6.36 1 Golgi apparatus membrane;Midbody;Nucleolus;Cytoplasm NA PE1 6 +NX_Q6UWV2 235 25989 8.12 1 Golgi apparatus;Membrane NA PE1 11 +NX_Q6UWV6 458 51494 6.39 1 Membrane NA PE1 17 +NX_Q6UWV7 190 20306 4.94 2 Membrane NA PE2 1 +NX_Q6UWW0 184 20454 4.8 0 Secreted NA PE1 9 +NX_Q6UWW8 571 62282 5.41 0 Nucleus membrane;Endoplasmic reticulum;Endoplasmic reticulum lumen NA PE1 16 +NX_Q6UWW9 146 16116 4.95 1 Membrane NA PE1 3 +NX_Q6UWX4 724 80779 9.21 0 Mitochondrion;Cytosol;Secreted NA PE1 1 +NX_Q6UWY0 536 61450 9.02 0 Cytoplasmic vesicle;Nucleus;Secreted NA PE1 5 +NX_Q6UWY2 283 30334 9.56 0 Cytoplasmic granule lumen;Secreted NA PE1 19 +NX_Q6UWY5 402 45951 8.29 0 Secreted NA PE1 11 +NX_Q6UWZ7 409 46663 6.58 0 Nucleus;Nucleus Breast cancer PE1 4 +NX_Q6UX01 489 55209 8.39 9 Cell membrane NA PE1 12 +NX_Q6UX04 472 53847 5.6 0 Nucleoplasm Retinitis pigmentosa with or without skeletal anomalies PE1 5 +NX_Q6UX06 510 57280 5.5 0 Extracellular space;Mitochondrion NA PE1 13 +NX_Q6UX07 377 40849 7.63 0 Cytoplasmic vesicle;Secreted NA PE1 17 +NX_Q6UX15 382 43108 4.85 1 Cytosol;Membrane NA PE1 11 +NX_Q6UX27 236 26109 4.98 1 Membrane;Secreted;Cytoplasmic vesicle NA PE1 19 +NX_Q6UX34 121 12073 4.11 1 Membrane;Nucleus;Nucleolus NA PE2 2 +NX_Q6UX39 209 21588 5.29 0 Secreted Amelogenesis imperfecta 3B PE1 4 +NX_Q6UX40 140 15503 6.05 4 Midbody;Midbody ring;Cytosol;Nucleoplasm;Membrane;Cilium Meckel syndrome 13;Orofaciodigital syndrome 16 PE1 17 +NX_Q6UX41 500 56748 8.38 1 Membrane NA PE1 5 +NX_Q6UX46 152 16915 9.75 0 Secreted NA PE1 2 +NX_Q6UX52 265 29091 8.93 0 Secreted;Cytosol NA PE1 17 +NX_Q6UX53 244 27775 8.71 0 Cytoskeleton;Cytoplasmic vesicle NA PE1 12 +NX_Q6UX65 266 29766 8.2 6 Golgi apparatus;Lysosome membrane;Photoreceptor inner segment;Apical cell membrane;Cytoplasmic vesicle NA PE1 1 +NX_Q6UX68 686 74982 6.21 5 Membrane NA PE1 8 +NX_Q6UX71 529 59583 5.99 1 Membrane;Nucleus NA PE1 10 +NX_Q6UX72 402 43751 9.33 1 Golgi apparatus membrane;Golgi apparatus;Nucleolus NA PE1 16 +NX_Q6UX73 402 45391 5.82 0 Secreted NA PE1 16 +NX_Q6UX82 237 25265 5.48 0 Cell membrane;Secreted NA PE1 1 +NX_Q6UX98 284 30176 9.01 5 Membrane;Cytoplasmic vesicle;Cytosol NA PE1 11 +NX_Q6UXA7 325 34195 7.88 0 Extracellular matrix NA PE1 6 +NX_Q6UXB0 335 36108 4.49 0 Nucleolus;Nucleus;Secreted NA PE2 3 +NX_Q6UXB1 125 14198 8.97 0 Secreted NA PE1 19 +NX_Q6UXB2 119 13819 10.97 0 Secreted NA PE1 19 +NX_Q6UXB3 125 13115 5.69 0 Cell membrane NA PE2 8 +NX_Q6UXB4 293 32562 6.15 1 Cell membrane NA PE1 19 +NX_Q6UXB8 463 49471 5.24 0 Secreted NA PE1 6 +NX_Q6UXC1 1216 131499 5.66 1 Cytosol;Nucleoplasm;Membrane NA PE1 9 +NX_Q6UXD1 115 13183 12.13 1 Membrane;Nucleoplasm NA PE2 9 +NX_Q6UXD5 910 97560 4.8 1 Cell membrane;Endoplasmic reticulum membrane NA PE1 16 +NX_Q6UXD7 560 58427 6.45 12 Membrane NA PE1 4 +NX_Q6UXE8 466 52251 5.84 1 Membrane NA PE1 5 +NX_Q6UXF1 575 59948 9.62 2 Membrane;Postsynaptic density;Endosome membrane;Axon;Dendrite;Early endosome;Cytosol;Cytoplasmic vesicle;Nucleolus NA PE1 3 +NX_Q6UXF7 455 50490 8.39 0 Secreted;Endoplasmic reticulum;Golgi apparatus;Endosome NA PE2 16 +NX_Q6UXG2 1013 111382 6.13 1 Lysosome membrane;Late endosome membrane;trans-Golgi network membrane;Cell membrane;Cell membrane NA PE1 1 +NX_Q6UXG3 332 36060 5.68 1 Basolateral cell membrane;Multivesicular body membrane;Apical cell membrane NA PE1 17 +NX_Q6UXG8 535 59716 6 1 Nucleus membrane;Membrane;Cytoplasmic vesicle NA PE1 5 +NX_Q6UXH0 198 22105 7.08 0 Nucleoplasm;Golgi apparatus;Secreted Diabetes mellitus, insulin-dependent;Diabetes mellitus, non-insulin-dependent PE1 19 +NX_Q6UXH1 353 38192 4.5 0 Secreted;Endoplasmic reticulum NA PE1 22 +NX_Q6UXH8 406 44103 7.74 0 Cell membrane;Cytosol;Secreted Hennekam lymphangiectasia-lymphedema syndrome 1 PE1 18 +NX_Q6UXH9 720 80199 7.57 0 Secreted NA PE1 11 +NX_Q6UXI7 678 73930 9.29 0 Extracellular matrix NA PE1 2 +NX_Q6UXI9 565 61907 8.74 0 Cytosol;Nucleus;Extracellular matrix;Cell junction NA PE1 4 +NX_Q6UXK2 745 78990 5.17 1 Cell membrane NA PE1 15 +NX_Q6UXK5 716 80716 5.77 1 Cytosol;Membrane NA PE1 3 +NX_Q6UXL0 311 35076 4.98 1 Membrane NA PE1 3 +NX_Q6UXM1 1119 123434 5.79 1 Cytoplasmic vesicle membrane;Cytosol;Cell membrane NA PE1 12 +NX_Q6UXN2 200 21924 8.87 0 Secreted NA PE2 6 +NX_Q6UXN7 152 17700 8.87 1 Mitochondrion outer membrane NA PE1 14 +NX_Q6UXN8 241 27324 6.42 1 Membrane NA PE1 12 +NX_Q6UXN9 313 35079 7.59 0 Nucleolus;Nucleus NA PE1 3 +NX_Q6UXP3 125 13608 8.46 2 Membrane NA PE5 3 +NX_Q6UXP7 276 31367 5.6 0 Cytosol NA PE1 5 +NX_Q6UXP9 181 19777 9.67 0 NA NA PE5 15 +NX_Q6UXQ4 117 13321 9.57 0 Secreted NA PE3 2 +NX_Q6UXQ8 127 13410 11.87 0 Secreted NA PE5 15 +NX_Q6UXR4 307 34864 5.95 0 Secreted NA PE5 14 +NX_Q6UXR6 183 19530 6.19 0 Secreted NA PE5 9 +NX_Q6UXR8 122 12794 7.65 0 NA NA PE5 19 +NX_Q6UXS0 136 15448 6.17 0 Secreted NA PE2 16 +NX_Q6UXS9 341 38865 5.63 0 NA NA PE2 11 +NX_Q6UXT8 129 14269 10.6 0 Secreted NA PE1 8 +NX_Q6UXT9 468 51771 7.57 0 Cytosol;Secreted;Nucleoplasm NA PE1 17 +NX_Q6UXU0 137 14541 10.84 0 Secreted NA PE2 19 +NX_Q6UXU4 331 36774 6.59 4 Cell membrane;Synapse NA PE1 16 +NX_Q6UXU6 159 17229 5.48 1 Nucleoplasm;Membrane NA PE2 17 +NX_Q6UXV0 394 44518 8.28 1 Membrane NA PE1 6 +NX_Q6UXV1 221 24856 9.07 1 Membrane NA PE1 19 +NX_Q6UXV3 157 16883 5.18 0 Secreted;Nucleus;Cytosol NA PE2 22 +NX_Q6UXV4 268 29159 9.55 2 Mitochondrion;Mitochondrion inner membrane;Mitochondrion NA PE1 X +NX_Q6UXX5 1313 143187 9.1 0 Secreted NA PE1 X +NX_Q6UXX9 243 28315 9.42 0 Secreted NA PE1 8 +NX_Q6UXY1 529 58987 9.53 0 Cell membrane;Cell junction;Cytoplasmic vesicle membrane NA PE1 22 +NX_Q6UXY8 1006 114797 8.46 10 Cell membrane;Nucleus;Membrane NA PE1 16 +NX_Q6UXZ0 262 29185 8.07 1 Cell membrane;Cytoplasm;Mitochondrion NA PE1 17 +NX_Q6UXZ3 194 21558 9.12 1 Cell membrane NA PE1 17 +NX_Q6UXZ4 953 105880 5.71 1 Cell membrane NA PE1 8 +NX_Q6UY01 552 61489 5.71 0 NA NA PE1 3 +NX_Q6UY09 585 64502 5.54 1 Microvillus membrane;Apical cell membrane NA PE2 19 +NX_Q6UY11 383 40548 6.09 1 Nucleus;Membrane NA PE1 6 +NX_Q6UY13 95 10734 9.78 0 Secreted NA PE3 2 +NX_Q6UY14 1074 116545 8.79 0 Cytosol;Extracellular matrix;Cell membrane Ectopia lentis et pupillae;Ectopia lentis 2, isolated, autosomal recessive PE1 1 +NX_Q6UY18 593 63774 8.53 1 Membrane NA PE2 1 +NX_Q6UY27 113 13015 6.91 0 Secreted NA PE1 11 +NX_Q6UYE1 221 23924 7.77 0 NA NA PE2 13 +NX_Q6V0I7 4981 542687 4.77 1 Cytosol;Membrane Hennekam lymphangiectasia-lymphedema syndrome 2;Van Maldergem syndrome 2 PE1 4 +NX_Q6V0L0 522 57111 9.24 1 Membrane Focal facial dermal dysplasia 4 PE1 10 +NX_Q6V1P9 2916 322234 4.63 1 Cytoplasmic vesicle;Cell membrane;Membrane NA PE1 4 +NX_Q6V1X1 898 103358 5.52 0 Cytoplasm;Cytosol NA PE1 15 +NX_Q6V702 233 26869 5.28 0 Cytosol;Cell membrane NA PE1 4 +NX_Q6V9R5 426 48563 8.76 0 Nucleus NA PE1 19 +NX_Q6VAB6 950 107632 8.95 0 Membrane;Cytoplasm NA PE1 12 +NX_Q6VB84 417 45820 9.82 0 Nucleus NA PE1 9 +NX_Q6VEQ5 465 50312 5.53 0 Early endosome membrane;Recycling endosome membrane;Late endosome;Autophagosome;Centriole NA PE2 2 +NX_Q6VMQ6 1270 136394 4.58 0 Nucleus;Nucleus;Nucleoplasm NA PE1 12 +NX_Q6VN20 620 67257 6.29 0 Cytosol;Nucleus NA PE1 16 +NX_Q6VUC0 442 46212 8.64 0 Nucleus NA PE2 1 +NX_Q6VVB1 395 42293 6.99 0 Cytoplasmic vesicle;Nucleus;Endoplasmic reticulum Epilepsy, progressive myoclonic 2 PE1 6 +NX_Q6VVX0 501 57359 7.25 0 Endoplasmic reticulum membrane;Microsome membrane Rickets vitamin D-dependent 1B PE1 11 +NX_Q6VY07 963 104898 7.6 0 Cytosol;Cytoskeleton;trans-Golgi network Schuurs-Hoeijmakers syndrome PE1 11 +NX_Q6W0C5 159 17851 8.86 0 Nucleus;Cytoplasm NA PE1 12 +NX_Q6W2J9 1755 192189 6.06 0 Nucleus;Nucleus Microphthalmia, syndromic, 2 PE1 X +NX_Q6W349 94 10157 5.34 0 NA NA PE5 4 +NX_Q6W3E5 623 71996 9.16 6 Membrane NA PE2 11 +NX_Q6W4X9 2439 257051 7.22 0 Secreted NA PE1 11 +NX_Q6W5P4 371 42687 8.63 7 Cytoplasm;Cell membrane Asthma-related traits 2 PE1 7 +NX_Q6WBX8 426 47832 6.47 0 NA NA PE1 12 +NX_Q6WCQ1 1025 116533 5.89 0 Cytosol;Cytoskeleton;Cytoskeleton NA PE1 17 +NX_Q6WKZ4 1283 137167 5.3 0 Recycling endosome;Phagosome membrane;Cytoplasmic vesicle NA PE1 8 +NX_Q6WN34 429 47495 8.23 0 Secreted;Mitochondrion;Cytoplasm NA PE1 11 +NX_Q6WQI6 88 10305 8.04 0 Golgi apparatus;Cytoplasm NA PE5 11 +NX_Q6WRI0 2623 290838 9.25 0 Secreted;Nucleoplasm;Cytoskeleton NA PE1 3 +NX_Q6WRX3 759 85808 8.3 0 Nucleus NA PE1 1 +NX_Q6X4T0 127 14485 8.66 0 NA NA PE2 12 +NX_Q6X4U4 206 23307 9.81 0 Secreted NA PE1 7 +NX_Q6X4W1 530 60143 9.19 0 Synapse;Cytoplasm;Nucleus membrane;Nucleoplasm;Synaptosome;Cell cortex;Cytoskeleton;Cell membrane;Dendrite;Nucleus matrix;Postsynaptic density;Membrane;Nucleus envelope;Nucleus Hypogonadotropic hypogonadism 9 with or without anosmia PE1 9 +NX_Q6X784 338 38652 8.04 0 Secreted;Acrosome NA PE1 17 +NX_Q6X9E4 464 53056 7.85 0 NA NA PE1 3 +NX_Q6XCG6 107 11455 7.94 0 NA NA PE4 1 +NX_Q6XD76 172 19253 9.23 0 Nucleus NA PE1 12 +NX_Q6XE24 437 47840 8.12 0 Cytoplasmic vesicle;Cytoplasm NA PE1 3 +NX_Q6XE38 83 9201 9.14 0 Secreted NA PE1 11 +NX_Q6XLA1 102 11902 8.53 0 NA NA PE2 10 +NX_Q6XPR3 784 90731 6.42 0 Extracellular matrix NA PE1 1 +NX_Q6XPS3 522 61112 8.8 3 Cytoplasm;Endoplasmic reticulum membrane NA PE1 13 +NX_Q6XQN6 538 57578 5.51 0 Cytosol;Cytosol;Nucleus;Golgi apparatus NA PE1 8 +NX_Q6XR72 485 52684 6.28 6 trans-Golgi network;Cell membrane;Early endosome;Recycling endosome Hypermanganesemia with dystonia 1 PE1 1 +NX_Q6XUX3 929 105206 6.29 0 Cytoskeleton;Apical cell membrane;Cytoplasm;Cell membrane;Nucleus speckle;Basolateral cell membrane;Cell junction Congenital anomalies of the kidney and urinary tract 1;Spastic paraplegia 23 PE1 1 +NX_Q6XXX2 140 15753 9.79 0 NA NA PE5 21 +NX_Q6XYB7 198 21482 8.95 0 Midbody;Nucleus;Nucleus NA PE1 2 +NX_Q6XYQ8 523 59127 7.57 1 Secretory vesicle membrane;Nucleoplasm;Cytoplasmic vesicle NA PE1 12 +NX_Q6XZB0 460 52992 9.22 0 Membrane;Secreted Hypertriglyceridemia, familial PE1 21 +NX_Q6XZF7 1577 177347 5.26 0 Cytoplasm;Golgi apparatus;Nucleus;Nucleolus;Cytosol;Synapse;Golgi stack;Cytoskeleton NA PE1 10 +NX_Q6Y1H2 254 28368 9.56 6 Endoplasmic reticulum membrane NA PE1 3 +NX_Q6Y288 498 56564 7.23 1 Endoplasmic reticulum membrane Peters-plus syndrome PE1 13 +NX_Q6Y2X3 702 78569 8.37 3 Endoplasmic reticulum membrane NA PE1 12 +NX_Q6Y7W6 1299 150070 5.45 0 Cytosol Parkinson disease 11 PE1 2 +NX_Q6YBV0 504 56157 6.6 10 Membrane;Cell membrane;Golgi apparatus;Cytosol NA PE1 11 +NX_Q6YFQ2 88 10529 9.21 0 Mitochondrion intermembrane space;Cytosol;Nucleoplasm;Cell membrane NA PE1 19 +NX_Q6YHK3 1445 161689 5.59 0 Endoplasmic reticulum;Cell membrane NA PE1 6 +NX_Q6YHU6 1953 219607 5.71 0 Cytosol NA PE1 2 +NX_Q6YI46 380 39665 8.78 6 Membrane;Endoplasmic reticulum NA PE1 8 +NX_Q6YN16 418 45395 8.07 0 Peroxisome;Mitochondrion NA PE1 9 +NX_Q6YP21 454 51400 8.4 0 Cytosol;Nucleolus NA PE1 1 +NX_Q6ZMB0 384 42748 7.65 1 Golgi apparatus membrane NA PE1 11 +NX_Q6ZMB5 413 45777 8.4 7 Nucleoplasm;Perinuclear region;Cytoplasmic vesicle membrane;Cell membrane;Early endosome membrane;Endosome;Secretory vesicle membrane NA PE1 7 +NX_Q6ZMC9 328 35653 8.86 1 Nucleoplasm;Membrane;Golgi apparatus NA PE1 18 +NX_Q6ZMD2 512 54769 6.14 12 Membrane NA PE1 17 +NX_Q6ZMG9 384 44890 7.56 5 Nucleus membrane;Endoplasmic reticulum membrane;Nucleus NA PE1 2 +NX_Q6ZMH5 540 56461 6.33 6 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Basolateral cell membrane Myopia 24, autosomal dominant PE1 12 +NX_Q6ZMI0 780 88314 6.4 0 Cytoplasmic vesicle NA PE1 2 +NX_Q6ZMI3 551 58957 8.1 1 Axon;Secreted;Extracellular matrix;Cell membrane Lethal congenital contracture syndrome 11 PE1 15 +NX_Q6ZMJ2 495 53994 6.65 1 Cell membrane NA PE1 8 +NX_Q6ZMJ4 242 27482 6.82 0 Secreted NA PE1 16 +NX_Q6ZMK1 362 40703 6.87 0 Cytoplasm;Perinuclear region;Nucleoplasm NA PE1 8 +NX_Q6ZMM2 481 53193 8.59 0 Golgi apparatus;Extracellular matrix;Secreted NA PE1 19 +NX_Q6ZMN7 1036 117103 5.61 0 NA NA PE1 12 +NX_Q6ZMN8 369 40622 8.07 0 Nucleoplasm;Cytosol;Golgi apparatus NA PE1 5 +NX_Q6ZMP0 1018 112450 7.94 0 Extracellular matrix;Nucleolus;Nucleus NA PE1 15 +NX_Q6ZMQ8 1374 144569 4.48 1 Membrane;Cytoplasm;Mitochondrion;Perinuclear region NA PE1 17 +NX_Q6ZMR3 332 36507 6.51 0 Cytoplasm NA PE1 11 +NX_Q6ZMR5 421 47569 9.32 1 Membrane NA PE1 4 +NX_Q6ZMS4 543 62084 8.45 0 Nucleus NA PE1 3 +NX_Q6ZMS7 281 31422 4.9 0 Cell membrane;Nucleus;Cytosol NA PE1 7 +NX_Q6ZMT1 411 45009 7.03 0 Nucleoplasm;Cytoplasmic vesicle NA PE1 17 +NX_Q6ZMT4 941 106557 8.34 0 Nucleoplasm;Nucleolus;Nucleus NA PE1 7 +NX_Q6ZMT9 781 88329 6.81 0 NA NA PE2 4 +NX_Q6ZMU1 363 40197 6.32 0 NA NA PE5 19 +NX_Q6ZMU5 477 52731 6.05 0 Nucleus;Nucleolus;Sarcolemma;Cytoplasmic vesicle membrane NA PE1 16 +NX_Q6ZMV5 832 95776 4.72 0 NA NA PE5 X +NX_Q6ZMV7 388 45158 6.29 0 NA NA PE2 3 +NX_Q6ZMV8 503 59040 9.48 0 Nucleus NA PE2 19 +NX_Q6ZMV9 814 92569 6.47 0 Cytoskeleton;Centrosome NA PE1 6 +NX_Q6ZMW2 699 80904 9.21 0 Nucleus;Nucleus;Mitochondrion NA PE1 9 +NX_Q6ZMW3 1958 217899 7.17 0 Mitochondrion;Cytoplasmic vesicle;Cytoskeleton NA PE1 2 +NX_Q6ZMY3 1216 130027 6.82 0 Cytosol;Nucleus;Nucleolus NA PE1 1 +NX_Q6ZMY6 472 52621 6.98 0 Golgi apparatus;Nucleoplasm NA PE1 19 +NX_Q6ZMY9 492 54711 9.26 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q6ZMZ0 732 77925 5.81 2 Cytoplasmic granule membrane;Cytosol;Endoplasmic reticulum membrane NA PE1 1 +NX_Q6ZMZ3 975 112216 5.88 1 Nucleus membrane;Nucleus outer membrane;Nucleus envelope;Rough endoplasmic reticulum NA PE1 14 +NX_Q6ZN01 415 44632 6.57 0 Nucleus speckle;Nucleus NA PE2 19 +NX_Q6ZN03 302 32374 9.1 0 NA NA PE5 21 +NX_Q6ZN04 569 58832 6.44 0 Cytosol;Nucleoplasm;P-body;Cytoplasmic granule;Nucleus;Cytoplasm NA PE1 15 +NX_Q6ZN06 617 71721 9.5 0 Nucleus NA PE1 19 +NX_Q6ZN08 573 65874 9.46 0 Nucleus NA PE5 19 +NX_Q6ZN11 406 46927 9.48 0 Nucleus;Nucleolus;Nucleus;Cytosol NA PE2 19 +NX_Q6ZN16 1313 147437 5.42 0 Cytoplasmic vesicle NA PE1 X +NX_Q6ZN17 250 27084 9.15 0 Nucleolus;Nucleus;Nucleolus;Cytoplasm;Nucleus;Cytosol NA PE1 6 +NX_Q6ZN18 517 54467 5.1 0 Nucleus;Nucleus NA PE1 12 +NX_Q6ZN19 808 93148 9.48 0 Nucleus NA PE1 19 +NX_Q6ZN28 852 96639 6.43 0 Mitochondrion;Cytoplasm;Nucleus NA PE1 7 +NX_Q6ZN30 1099 122330 6.07 0 Cytosol;Nucleus;Nucleus NA PE1 9 +NX_Q6ZN32 361 39948 9 0 Nucleus NA PE2 1 +NX_Q6ZN44 842 92932 6.33 1 Membrane raft;Cell membrane;Cytosol;Cell membrane;Cell projection NA PE1 5 +NX_Q6ZN54 512 58710 6.09 0 Nucleoplasm;Cytosol NA PE1 16 +NX_Q6ZN55 896 98900 8.44 0 Nucleus;Nucleoplasm NA PE1 19 +NX_Q6ZN57 461 52740 8.91 0 Nucleus NA PE1 5 +NX_Q6ZN66 633 72427 5.98 0 NA NA PE1 1 +NX_Q6ZN68 376 43060 8.74 6 Endoplasmic reticulum;Membrane NA PE5 7 +NX_Q6ZN79 300 34734 9.36 0 Nucleus NA PE2 12 +NX_Q6ZN84 652 76084 9.25 0 Centrosome;Cell membrane NA PE1 11 +NX_Q6ZN92 141 15492 7.06 0 NA NA PE5 9 +NX_Q6ZNA1 936 107717 9.39 0 Nucleus NA PE2 19 +NX_Q6ZNA4 994 108862 6.67 0 Nucleus;Cytoplasm;PML body;Nucleus;Cytosol NA PE1 15 +NX_Q6ZNA5 592 66114 7.11 7 Membrane NA PE1 1 +NX_Q6ZNB5 142 15763 8.53 0 Nucleolus NA PE5 11 +NX_Q6ZNB6 911 101339 8.85 1 Nucleoplasm;Membrane NA PE1 4 +NX_Q6ZNB7 445 51500 7.75 5 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA PE1 7 +NX_Q6ZNC4 412 45276 8.8 0 Nucleoplasm NA PE1 8 +NX_Q6ZNC8 495 56557 9.33 9 Membrane;Mitochondrion NA PE1 6 +NX_Q6ZNE5 492 55309 6.59 0 Cytoplasm;Endoplasmic reticulum membrane;Preautophagosomal structure membrane;Autophagosome membrane NA PE1 14 +NX_Q6ZNE9 571 64350 6.44 0 NA NA PE1 2 +NX_Q6ZNF0 438 50480 9.3 0 Secreted NA PE1 19 +NX_Q6ZNG0 422 48503 8.64 0 Cell membrane;Nucleus NA PE1 3 +NX_Q6ZNG1 722 83124 9.4 0 Nucleus NA PE1 19 +NX_Q6ZNG2 339 36555 9.47 0 Nucleus NA PE2 12 +NX_Q6ZNG9 492 56205 5.67 0 Nucleoplasm NA PE1 17 +NX_Q6ZNH5 498 54721 9.27 0 Cell junction;Nucleus;Nucleus NA PE1 19 +NX_Q6ZNI0 430 49319 8.93 1 Golgi apparatus membrane NA PE2 20 +NX_Q6ZNJ1 2754 302517 5.95 0 Endoplasmic reticulum Gray platelet syndrome PE1 3 +NX_Q6ZNK6 161 17888 6.96 0 NA NA PE1 5 +NX_Q6ZNL6 1462 159891 4.93 0 Cytoskeleton;Ruffle membrane;Endoplasmic reticulum;Golgi apparatus;Early endosome NA PE1 3 +NX_Q6ZNM6 134 15452 9.3 0 NA NA PE1 5 +NX_Q6ZNQ3 347 39592 8.89 0 Cell membrane NA PE1 8 +NX_Q6ZNR0 172 18162 4.96 2 Membrane NA PE2 19 +NX_Q6ZNR8 217 22251 11.45 0 NA NA PE5 20 +NX_Q6ZNW5 385 42362 6.01 0 Cytosol;Cytoplasm NA PE1 15 +NX_Q6ZNX1 250 28842 9.18 0 Nucleoplasm;Nucleolus NA PE2 5 +NX_Q6ZP01 1051 117985 5.48 0 Cytoplasm NA PE1 2 +NX_Q6ZP29 291 31947 8.23 7 Cytoplasmic vesicle;Lysosome membrane NA PE1 1 +NX_Q6ZP65 573 64841 4.93 0 Cytosol;Nucleoplasm;Centrosome;Cytoplasmic vesicle NA PE1 12 +NX_Q6ZP68 121 13416 8.66 0 NA NA PE2 13 +NX_Q6ZP80 229 25879 6.42 3 Cytoplasmic vesicle;Nucleoplasm;Membrane NA PE1 2 +NX_Q6ZP82 1450 166261 5.41 0 Cytoplasm;Centrosome;Nucleoplasm NA PE1 2 +NX_Q6ZP98 133 14599 10.17 0 NA NA PE2 16 +NX_Q6ZPA2 131 13472 6.7 0 NA NA PE2 19 +NX_Q6ZPB5 146 16112 8.99 2 Membrane NA PE1 6 +NX_Q6ZPD8 337 38593 9.87 2 Endoplasmic reticulum membrane NA PE2 X +NX_Q6ZPD9 716 83197 8.94 12 Membrane;Cytoskeleton NA PE1 19 +NX_Q6ZQN5 318 32979 8.93 0 Nucleus NA PE2 10 +NX_Q6ZQN7 724 78948 7.67 12 Basolateral cell membrane NA PE1 5 +NX_Q6ZQQ2 1576 175618 9.07 1 Membrane NA PE1 9 +NX_Q6ZQQ6 2873 333185 6.94 0 NA NA PE1 19 +NX_Q6ZQR2 320 36499 10.26 0 Cytosol;Cilium NA PE1 9 +NX_Q6ZQT0 140 15498 7.4 0 NA NA PE5 4 +NX_Q6ZQT7 251 25248 10.23 0 NA NA PE2 10 +NX_Q6ZQV5 615 71992 9.64 0 Nucleus;Nucleus NA PE2 19 +NX_Q6ZQW0 420 47075 6.39 0 NA NA PE1 8 +NX_Q6ZQX7 453 49656 7.79 0 Nucleolus;Cytosol NA PE1 17 +NX_Q6ZQY2 392 41621 5.01 0 NA NA PE2 22 +NX_Q6ZQY3 521 59246 5.98 0 Cell membrane;Cytosol NA PE1 3 +NX_Q6ZQY7 126 14345 9.3 0 NA NA PE2 15 +NX_Q6ZR03 302 31336 7.13 0 NA NA PE2 21 +NX_Q6ZR08 3092 356942 5.85 0 Cilium axoneme NA PE1 3 +NX_Q6ZR37 379 44301 8.55 0 NA NA PE2 12 +NX_Q6ZR52 646 75342 9.44 0 Nucleus NA PE1 19 +NX_Q6ZR54 194 19406 10.93 0 NA NA PE5 22 +NX_Q6ZR62 310 34685 5.5 0 Cell membrane;Cytosol;Nucleus NA PE2 X +NX_Q6ZR85 190 19931 6.91 0 Nucleus NA PE2 17 +NX_Q6ZRC1 276 30622 5.57 0 NA NA PE2 4 +NX_Q6ZRF7 136 15513 10.24 0 Nucleus NA PE5 19 +NX_Q6ZRF8 634 70861 6.21 0 Cytosol;Cytoplasm NA PE1 1 +NX_Q6ZRG5 221 24122 4.39 0 NA NA PE5 17 +NX_Q6ZRH7 1159 133032 5.95 1 Membrane;Nucleolus;Nucleus;Cytosol NA PE1 19 +NX_Q6ZRI0 2925 314794 5.57 0 Extracellular space;Apical cell membrane Deafness, autosomal recessive, 18B PE1 11 +NX_Q6ZRI6 1047 110673 7.72 0 Cytosol NA PE1 15 +NX_Q6ZRI8 547 61664 9.48 0 Cytoplasmic vesicle;Cell membrane;Nucleus NA PE1 X +NX_Q6ZRK6 1079 124154 5.42 0 NA NA PE1 11 +NX_Q6ZRM9 215 21770 9.15 0 NA NA PE2 7 +NX_Q6ZRN7 208 21161 11.78 0 NA NA PE2 16 +NX_Q6ZRP0 262 27805 4.48 0 NA NA PE2 3 +NX_Q6ZRP5 223 25262 11.34 0 NA NA PE5 4 +NX_Q6ZRP7 698 77529 7.64 1 Membrane;Secreted;Cell membrane;Nucleus membrane;Golgi apparatus;Nucleoplasm NA PE1 9 +NX_Q6ZRQ5 1243 142321 6.72 0 Nucleus;Nucleoplasm NA PE1 6 +NX_Q6ZRR5 245 27859 8.83 6 Membrane;Cytosol;Cytoplasmic vesicle NA PE2 11 +NX_Q6ZRR7 1453 166911 7.66 0 NA NA PE1 14 +NX_Q6ZRR9 648 72753 9.05 0 NA NA PE2 11 +NX_Q6ZRS2 3230 343555 5.69 0 Nucleus;Cytoplasm;Nucleus;Nucleoplasm;Nucleus Floating-Harbor syndrome PE1 16 +NX_Q6ZRS4 1044 115403 5.18 0 Nucleoplasm NA PE2 7 +NX_Q6ZRT6 265 28269 4.65 0 NA NA PE2 3 +NX_Q6ZRU5 148 16879 9.72 0 Secreted NA PE5 17 +NX_Q6ZRV2 1179 127122 6.52 0 Cytosol;Cytoskeleton Amelogenesis imperfecta 3A PE1 8 +NX_Q6ZRV3 163 16900 4.89 0 NA NA PE5 3 +NX_Q6ZRX8 168 18969 10.14 0 NA NA PE5 12 +NX_Q6ZRY4 209 22497 8.63 0 Cytoplasm NA PE1 15 +NX_Q6ZRZ4 202 22306 10.08 0 Secreted NA PE2 9 +NX_Q6ZS02 220 23740 8.42 0 NA NA PE5 15 +NX_Q6ZS10 378 42935 4.6 1 Membrane NA PE1 19 +NX_Q6ZS11 566 62466 5.59 0 Nucleoplasm;Cytoplasmic vesicle;Ruffle;Cytoplasmic vesicle NA PE1 19 +NX_Q6ZS17 1223 132308 5.87 0 Cytoplasm;Cytosol;Golgi apparatus;Golgi apparatus NA PE1 16 +NX_Q6ZS27 426 48496 7.76 0 Nucleus NA PE1 3 +NX_Q6ZS30 2694 307237 6.01 0 Cytosol;Nucleoplasm NA PE1 2 +NX_Q6ZS46 218 22150 10.58 0 NA NA PE5 6 +NX_Q6ZS49 121 13061 9.78 0 NA NA PE5 17 +NX_Q6ZS52 159 17352 10.74 0 NA NA PE5 6 +NX_Q6ZS62 124 13401 4.47 1 Membrane NA PE2 11 +NX_Q6ZS72 473 50509 8.86 0 NA NA PE1 19 +NX_Q6ZS81 3184 353610 5.9 2 Cytosol;Nucleoplasm;Membrane NA PE1 10 +NX_Q6ZS82 235 25148 6.84 1 Membrane Prolonged electroretinal response suppression PE1 19 +NX_Q6ZS86 529 59156 6.48 0 Nucleoplasm;Cytosol NA PE1 3 +NX_Q6ZS92 163 18106 9.99 0 NA NA PE5 4 +NX_Q6ZS94 237 24356 11.59 0 NA NA PE2 1 +NX_Q6ZSA7 311 34424 5.72 1 Cell membrane NA PE1 11 +NX_Q6ZSA8 131 13825 11.82 0 NA NA PE5 19 +NX_Q6ZSB3 139 15654 7.82 0 NA NA PE5 2 +NX_Q6ZSB9 765 85061 6.52 0 Cytoplasm;Cytosol;Cytoskeleton;Nucleus;Nucleoplasm NA PE1 4 +NX_Q6ZSC3 357 40666 9.67 0 Nucleolus;Nucleus NA PE1 2 +NX_Q6ZSG1 346 39526 8.19 0 Cell membrane;Nucleus;Nucleus NA PE1 18 +NX_Q6ZSG2 479 52909 8.23 0 NA NA PE1 10 +NX_Q6ZSI9 719 81037 5.95 0 Nucleoplasm;Focal adhesion NA PE1 19 +NX_Q6ZSJ8 110 11471 6.29 0 NA NA PE1 1 +NX_Q6ZSJ9 500 55764 9.44 1 Membrane NA PE1 17 +NX_Q6ZSK4 140 15188 9.61 0 NA NA PE5 11 +NX_Q6ZSM3 486 53075 8.49 12 Cell membrane Cataract 47 PE1 10 +NX_Q6ZSN1 163 16659 11.74 0 NA NA PE2 9 +NX_Q6ZSR3 168 17863 8.77 0 Mitochondrion NA PE5 15 +NX_Q6ZSR6 202 22955 6.09 0 NA NA PE2 16 +NX_Q6ZSR9 355 37976 5.14 0 NA NA PE1 2 +NX_Q6ZSS3 439 49205 9.16 0 Nucleus;Nucleus speckle NA PE1 3 +NX_Q6ZSS7 791 88088 5.35 12 Cytosol;Cytoskeleton;Membrane;Nucleoplasm NA PE1 2 +NX_Q6ZST2 131 14410 9.53 0 NA NA PE2 4 +NX_Q6ZST4 164 17784 8.42 0 NA NA PE2 9 +NX_Q6ZSU1 146 16683 6.27 0 NA NA PE5 19 +NX_Q6ZSV7 163 16907 8.74 0 NA NA PE2 6 +NX_Q6ZSY5 799 82798 4.5 1 Nucleoplasm;Membrane NA PE1 X +NX_Q6ZSZ5 1173 130780 6.65 0 Cytoplasm;Cytosol;Cytoskeleton;Apical cell membrane Retinitis pigmentosa 78 PE1 19 +NX_Q6ZSZ6 1077 117916 6.62 0 Nucleoplasm;Nucleus Aural atresia, congenital PE1 18 +NX_Q6ZT07 1266 143229 5.18 0 Nucleoplasm;Cytosol NA PE1 4 +NX_Q6ZT12 1888 212433 5.74 3 Membrane;Nucleus;Nucleolus NA PE1 2 +NX_Q6ZT21 453 49453 6.43 5 Nucleoplasm;Mitochondrion;Membrane NA PE1 3 +NX_Q6ZT52 329 36776 10.36 0 Cytosol NA PE1 1 +NX_Q6ZT62 677 73599 5.13 0 Cell membrane;Cytosol NA PE1 22 +NX_Q6ZT77 177 20580 10.14 0 Nucleus NA PE5 19 +NX_Q6ZT83 130 14355 10.52 0 NA NA PE2 18 +NX_Q6ZT89 311 33440 8.95 6 Cytoskeleton;Cytoskeleton;Mitochondrion inner membrane NA PE1 5 +NX_Q6ZT98 887 102999 9.36 0 Cytosol;Dendrite;Perikaryon;Cilium;Cilium basal body NA PE1 1 +NX_Q6ZTA4 783 83823 7.08 0 Cytoskeleton;Cytoplasm NA PE1 1 +NX_Q6ZTB9 187 21749 8.93 0 NA NA PE5 19 +NX_Q6ZTC4 211 22100 10.68 0 NA NA PE2 20 +NX_Q6ZTI0 123 12888 10 0 NA NA PE5 11 +NX_Q6ZTI6 216 23610 8.75 0 Nucleoplasm;Cytoskeleton NA PE1 12 +NX_Q6ZTK2 550 61934 9.07 0 NA NA PE2 16 +NX_Q6ZTN6 518 58476 5.26 0 Mitochondrion;Cell membrane;Nucleus;Late endosome NA PE1 11 +NX_Q6ZTQ3 369 43384 8.79 0 Golgi apparatus;Nucleoplasm NA PE1 4 +NX_Q6ZTQ4 885 97977 5.26 1 Cell membrane;Nucleolus NA PE1 7 +NX_Q6ZTR5 3102 351950 7.18 0 NA NA PE1 X +NX_Q6ZTR6 163 17236 10.37 0 NA NA PE2 18 +NX_Q6ZTR7 304 34755 8.84 0 Cilium basal body;Centriole NA PE1 16 +NX_Q6ZTU2 488 51753 6.76 0 NA NA PE1 12 +NX_Q6ZTW0 290 31275 9.26 0 Flagellum axoneme;Cilium axoneme;Centrosome;Dendrite;Axon;Flagellum basal body;Cilium basal body NA PE1 19 +NX_Q6ZTY9 151 16773 9.48 0 NA NA PE2 7 +NX_Q6ZTZ1 278 31632 8.99 0 NA NA PE2 4 +NX_Q6ZU15 432 50025 5.87 0 Cytoplasm;Cytoskeleton NA PE1 7 +NX_Q6ZU35 1233 136760 5.5 0 Nucleoplasm;Golgi apparatus NA PE1 4 +NX_Q6ZU45 233 25812 6.3 0 NA NA PE5 1 +NX_Q6ZU52 694 79163 8.64 0 Cytosol;Centrosome NA PE1 6 +NX_Q6ZU64 1925 217250 6.07 1 Flagellum membrane NA PE1 2 +NX_Q6ZU65 1347 146089 9.24 0 Nucleoplasm NA PE1 7 +NX_Q6ZU67 534 58375 5.75 0 Nucleolus;Cytosol;Nucleus NA PE2 4 +NX_Q6ZU69 1335 148096 8.62 1 Membrane NA PE1 9 +NX_Q6ZU80 1094 128015 6.11 0 Centriole;Spindle pole;Microtubule organizing center NA PE1 14 +NX_Q6ZUA9 1318 149091 7.63 0 NA NA PE2 8 +NX_Q6ZUB0 917 102390 8.2 1 Membrane NA PE5 9 +NX_Q6ZUB1 1445 157136 9.29 1 Membrane NA PE1 9 +NX_Q6ZUF6 198 20903 11.57 0 NA NA PE5 6 +NX_Q6ZUG5 572 66039 6.81 0 NA NA PE1 3 +NX_Q6ZUI0 275 31230 6.61 0 Nucleoplasm;Cytoplasm NA PE1 3 +NX_Q6ZUJ4 267 30194 5.36 0 Nucleus speckle NA PE1 3 +NX_Q6ZUJ8 805 90398 5.25 0 Cytoplasm;Cell membrane;Cytosol;Nucleus;Cell membrane NA PE1 10 +NX_Q6ZUK4 368 41672 6.4 8 Membrane NA PE1 10 +NX_Q6ZUL3 223 24736 9.59 0 NA NA PE2 8 +NX_Q6ZUM4 889 98396 5.4 0 Cytoplasm;Membrane;Nucleus;Cytosol NA PE1 17 +NX_Q6ZUS5 278 33061 9.84 0 Cytosol;Cytoskeleton NA PE1 2 +NX_Q6ZUS6 474 52796 5.92 0 Nucleolus NA PE1 4 +NX_Q6ZUT1 292 34110 9.73 0 Cytosol NA PE1 11 +NX_Q6ZUT3 714 81614 8.05 0 Cell projection;Growth cone Nystagmus congenital X-linked 1 PE1 X +NX_Q6ZUT4 128 14221 9.39 0 NA NA PE5 12 +NX_Q6ZUT6 534 57325 9.31 0 Nucleoplasm;Cytosol NA PE1 15 +NX_Q6ZUT9 1274 145020 6.29 1 Nucleolus;Cytoskeleton;Membrane NA PE1 12 +NX_Q6ZUU3 175 18625 11.34 0 Nucleolus NA PE2 3 +NX_Q6ZUV0 252 28164 6.71 0 Cytoplasm NA PE5 4 +NX_Q6ZUX3 1019 111153 9.51 0 NA NA PE1 2 +NX_Q6ZUX7 228 24486 6.06 4 Membrane;Cytoskeleton;Cytoplasmic vesicle NA PE1 5 +NX_Q6ZV29 1317 145733 7.77 1 Nucleus membrane;Mitochondrion membrane;Lysosome membrane;Microsome membrane;Membrane;Microtubule organizing center;Cytosol NA PE1 9 +NX_Q6ZV50 586 66266 5.75 0 Nucleus;Nucleoplasm;Nucleus NA PE2 2 +NX_Q6ZV56 151 16313 6.5 0 NA NA PE2 22 +NX_Q6ZV60 143 16386 9.92 0 NA NA PE5 12 +NX_Q6ZV65 393 45662 9.47 0 Cytosol;Cell membrane NA PE2 4 +NX_Q6ZV70 420 46319 6.71 0 NA NA PE1 X +NX_Q6ZV73 1430 160816 6.61 0 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton NA PE1 12 +NX_Q6ZV77 190 20001 6.99 0 NA NA PE2 9 +NX_Q6ZV80 131 14825 9.55 0 NA NA PE2 2 +NX_Q6ZV89 423 46797 8.89 0 Postsynaptic density;Cytosol NA PE1 1 +NX_Q6ZVC0 841 87928 9.72 0 Golgi apparatus;Cytoplasmic vesicle NA PE1 7 +NX_Q6ZVD7 989 110962 7.82 0 Cytoplasm;Nucleus;Centrosome;Nucleoplasm;Nucleolus;Cytosol;Nucleolus Pre-eclampsia/eclampsia 4 PE1 10 +NX_Q6ZVD8 1323 146751 5.45 0 Cytoplasm;Membrane;Cytoplasmic vesicle;Nucleus NA PE1 16 +NX_Q6ZVE7 132 14887 10.38 4 Golgi apparatus membrane NA PE1 1 +NX_Q6ZVF9 776 82439 7.52 0 Nucleus;Nucleolus NA PE1 4 +NX_Q6ZVH6 145 15831 8.23 0 NA NA PE2 11 +NX_Q6ZVH7 1005 108132 6.01 0 Stereocilium NA PE1 2 +NX_Q6ZVK1 233 26378 5.07 4 Mitochondrion;Membrane NA PE1 14 +NX_Q6ZVK8 323 35501 5.83 0 Golgi apparatus;Nucleoplasm NA PE1 8 +NX_Q6ZVL6 1849 198999 8.32 1 Nucleoplasm;Membrane NA PE1 11 +NX_Q6ZVL8 140 15891 9.03 0 NA NA PE2 16 +NX_Q6ZVM7 507 55556 4.69 0 Golgi apparatus;Cytoskeleton NA PE1 17 +NX_Q6ZVN7 128 14085 9.69 0 NA NA PE2 7 +NX_Q6ZVN8 426 45080 7.57 0 Cell membrane Hemochromatosis 2A PE1 1 +NX_Q6ZVQ6 151 17006 11.05 0 NA NA PE2 19 +NX_Q6ZVS7 135 16193 8.06 0 NA NA PE5 7 +NX_Q6ZVT0 673 75042 9.36 0 NA NA PE1 1 +NX_Q6ZVT6 689 76271 5.09 0 Nucleus;Golgi apparatus NA PE2 3 +NX_Q6ZVU0 165 18168 9.05 0 NA NA PE5 11 +NX_Q6ZVW7 336 37514 8.74 0 NA NA PE1 22 +NX_Q6ZVX7 275 30847 6.16 0 Mitochondrion;Cytoplasm NA PE1 19 +NX_Q6ZVX9 377 42692 8.92 7 Cell membrane NA PE1 3 +NX_Q6ZVZ8 466 50803 6.49 0 NA NA PE2 2 +NX_Q6ZW05 846 96371 8.84 12 Membrane;Cell membrane;Cytosol NA PE2 6 +NX_Q6ZW13 317 33511 5.29 0 NA NA PE1 16 +NX_Q6ZW31 735 79793 8.72 0 Nucleoplasm;Cytosol;Golgi apparatus NA PE1 19 +NX_Q6ZW33 695 77277 8.64 0 Cell membrane;Cytoplasm;Nucleoplasm;Cytosol NA PE1 11 +NX_Q6ZW35 169 18328 7 0 NA NA PE2 1 +NX_Q6ZW49 1069 121341 6.24 0 Chromosome;Nucleus matrix;Cytoplasmic vesicle;Nucleoplasm NA PE1 7 +NX_Q6ZW61 710 79085 5.8 0 Cilium Bardet-Biedl syndrome 12 PE1 4 +NX_Q6ZW76 656 72038 5.31 0 Cytosol;Nucleoplasm NA PE1 16 +NX_Q6ZWB6 473 52440 8.6 0 Presynaptic cell membrane;Cytoplasmic vesicle;Postsynaptic cell membrane NA PE1 4 +NX_Q6ZWC4 215 22988 9.32 0 NA NA PE5 19 +NX_Q6ZWE6 761 87166 6.69 0 Cytoplasmic vesicle;Cytosol NA PE1 2 +NX_Q6ZWH5 1172 133259 6.35 0 Cytoplasmic vesicle;Nucleoplasm NA PE1 3 +NX_Q6ZWI9 263 29922 5.52 0 NA NA PE2 6 +NX_Q6ZWJ1 553 61662 5.12 0 Cytosol;Cell membrane;Cytoplasm NA PE1 17 +NX_Q6ZWJ8 1503 159938 5.46 0 Secreted NA PE1 7 +NX_Q6ZWK4 172 19405 4.76 1 Membrane NA PE1 1 +NX_Q6ZWK6 438 49410 9.33 1 Membrane NA PE2 4 +NX_Q6ZWL3 525 60724 7.19 1 Nucleus speckle;Endoplasmic reticulum membrane Bietti crystalline corneoretinal dystrophy PE1 4 +NX_Q6ZWT7 520 59527 8.3 9 Cytoplasmic vesicle;Membrane NA PE1 2 +NX_Q6ZXV5 915 104009 9.03 9 Endoplasmic reticulum;Endoplasmic reticulum;Cytoskeleton;Membrane Lissencephaly 8 PE1 12 +NX_Q6ZYL4 71 8053 4.5 0 Nucleus Trichothiodystrophy 3, photosensitive PE1 6 +NX_Q701N2 237 21409 8.39 0 NA NA PE2 11 +NX_Q701N4 177 16271 8.31 0 NA NA PE1 11 +NX_Q702N8 1843 198561 5.78 0 Nucleus;Cytoskeleton;Cell junction NA PE1 3 +NX_Q709C8 3753 422390 6.38 0 Mitochondrion outer membrane;Cytoskeleton Parkinson disease 23, autosomal recessive, early onset PE1 15 +NX_Q709F0 780 87283 8.35 0 Mitochondrion;Peroxisome NA PE1 3 +NX_Q70CQ1 688 79198 9.37 0 Nucleus NA PE1 6 +NX_Q70CQ2 3546 404233 5.51 0 Cytoplasm;Nucleus NA PE1 2 +NX_Q70CQ3 517 58503 8.57 1 Mitochondrion outer membrane NA PE1 12 +NX_Q70CQ4 1352 146651 9.35 0 Cytosol NA PE1 16 +NX_Q70E73 1250 135256 8.97 0 Cytosol;Nucleus;Cell membrane;Cytoskeleton;Cell membrane;Lamellipodium;Filopodium NA PE1 2 +NX_Q70EK8 1073 120806 7.54 0 Golgi apparatus;Tight junction;Nucleoplasm NA PE1 4 +NX_Q70EK9 711 79756 8.73 0 Chromosome NA PE1 X +NX_Q70EL1 1684 187388 6.89 0 Mitochondrion NA PE1 10 +NX_Q70EL2 814 91733 8.32 0 Cytosol;Nucleus NA PE1 6 +NX_Q70EL3 339 38955 6.31 0 NA NA PE2 15 +NX_Q70EL4 1123 122809 9.35 0 NA NA PE1 17 +NX_Q70HW3 274 29381 9.39 6 Mitochondrion;Mitochondrion inner membrane Combined oxidative phosphorylation deficiency 28 PE1 3 +NX_Q70IA6 237 26927 6.3 0 Cytosol;Nucleus;Perinuclear region;Nucleolus;Nucleus NA PE1 11 +NX_Q70IA8 216 25623 9.01 0 NA NA PE1 1 +NX_Q70J99 1090 123282 6.19 0 Cytosol;Lysosome;Recycling endosome;Late endosome;Membrane;Cytoplasm Familial hemophagocytic lymphohistiocytosis 3 PE1 17 +NX_Q70JA7 882 100284 8.91 1 Golgi stack membrane NA PE1 5 +NX_Q70SY1 520 57415 5.3 1 Endoplasmic reticulum;Nucleoplasm;Nucleus;Endoplasmic reticulum membrane NA PE1 7 +NX_Q70UQ0 350 39309 9.21 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA PE1 12 +NX_Q70YC4 216 24036 8.19 0 NA Uric acid nephrolithiasis PE2 10 +NX_Q70YC5 407 46542 9.3 0 Centrosome;Cytoplasmic vesicle;Microtubule organizing center NA PE1 10 +NX_Q70Z35 1606 182622 7.26 0 Endoplasmic reticulum NA PE1 8 +NX_Q70Z44 454 50191 9.02 4 Cell membrane NA PE1 3 +NX_Q70Z53 315 37548 8.25 0 Nucleus NA PE1 10 +NX_Q711Q0 1435 156477 5.98 0 NA NA PE1 10 +NX_Q712K3 238 27166 4.26 0 Nucleolus;Nucleus NA PE1 9 +NX_Q717R9 158 16393 6.76 0 Cilium membrane;Cilium axoneme NA PE1 2 +NX_Q719H9 257 29405 6.61 0 Nucleus Scalp-ear-nipple syndrome PE1 18 +NX_Q719I0 299 33806 6.98 0 Nucleus;Cytoplasm;Cytoskeleton;Cytoplasmic vesicle;Cytoskeleton NA PE1 2 +NX_Q71DI3 136 15388 11.27 0 Nucleus;Chromosome NA PE1 1 +NX_Q71F23 418 47522 9.18 0 Kinetochore;Nucleus;Microtubule organizing center;Nucleus;Cytoplasm NA PE1 4 +NX_Q71F56 2210 242602 5.67 0 Nucleus;Nucleus;Golgi apparatus Transposition of the great arteries dextro-looped 1;Mental retardation and distinctive facial features with or without cardiac defects PE1 12 +NX_Q71F78 164 17306 9.33 0 NA NA PE2 X +NX_Q71H61 639 71200 8.43 1 Endoplasmic reticulum membrane NA PE1 1 +NX_Q71RC2 724 80596 6.2 0 Cytoplasm;Nucleus;Cytosol;Cytoplasmic granule;Cytosol NA PE1 12 +NX_Q71RC9 77 8540 8.24 1 Golgi apparatus;Cytoplasmic vesicle;Membrane NA PE1 17 +NX_Q71RG4 321 33788 4.92 3 Endoplasmic reticulum;Cytosol;Cytoplasmic vesicle;Membrane NA PE1 17 +NX_Q71RG6 208 21376 9.25 0 Secreted NA PE5 8 +NX_Q71RH2 274 30629 9.12 4 Endoplasmic reticulum;Golgi apparatus membrane;Endoplasmic reticulum membrane NA PE1 16 +NX_Q71RS6 500 54888 5.77 11 Melanosome;trans-Golgi network membrane Albinism, oculocutaneous, 6 PE1 15 +NX_Q71SY5 747 78171 8.61 0 Cytoplasm;Nucleus;Nucleoplasm;Nucleus Basel-Vanagaite-Smirin-Yosef syndrome;Charcot-Marie-Tooth disease 2B2 PE1 19 +NX_Q71U36 451 50136 4.94 0 Cytoskeleton Lissencephaly 3 PE1 12 +NX_Q71UI9 128 13509 10.58 0 Nucleus;Chromosome NA PE1 7 +NX_Q71UM5 84 9477 9.57 0 NA NA PE1 15 +NX_Q75L30 129 13422 9.14 0 NA NA PE5 7 +NX_Q75LS8 142 15591 4.29 0 NA NA PE5 7 +NX_Q75MW2 155 17236 9.66 0 NA NA PE5 7 +NX_Q75N03 491 54519 8.57 0 Nucleus speckle;Nucleus speckle;Nucleoplasm NA PE1 7 +NX_Q75N90 2809 300356 4.92 0 Extracellular matrix NA PE1 19 +NX_Q75NE6 70 8163 9.26 1 Membrane Feingold syndrome 2 PE5 13 +NX_Q75QN2 995 113088 6.65 0 Nucleoplasm;Nucleus NA PE1 8 +NX_Q75T13 922 105383 9.14 7 Endoplasmic reticulum membrane Mental retardation, autosomal recessive 42 PE1 2 +NX_Q75V66 913 107188 6.37 8 Endoplasmic reticulum membrane;Cell membrane Limb-girdle muscular dystrophy 2L;Gnathodiaphyseal dysplasia;Miyoshi muscular dystrophy 3 PE1 11 +NX_Q75VX8 874 92882 6.48 0 Cytosol NA PE1 2 +NX_Q75WM6 255 28116 11.77 0 Nucleus;Chromosome NA PE1 12 +NX_Q765I0 119 13749 6.11 0 Mitochondrion;Secreted NA PE3 3 +NX_Q765P7 747 79929 7.18 0 Focal adhesion;Cytoplasm;Ruffle NA PE1 16 +NX_Q76B58 766 88445 8.06 0 Mitochondrion;Secreted NA PE1 1 +NX_Q76EJ3 337 36673 8.89 8 Golgi apparatus;Golgi apparatus membrane NA PE1 9 +NX_Q76FK4 1167 131616 6.67 0 Nucleolus;Nucleolus NA PE1 9 +NX_Q76G19 769 86171 5.8 0 Cell cortex NA PE1 X +NX_Q76I76 1423 158216 5.26 0 Cytoskeleton NA PE1 17 +NX_Q76KD6 591 62399 8.31 0 Cytoplasm;Centrosome NA PE1 8 +NX_Q76KP1 1039 116513 6.51 1 Cytoskeleton;Spindle;Golgi stack membrane;Nucleoplasm;Cytoskeleton NA PE1 11 +NX_Q76KX8 674 77167 9.42 0 Nucleus NA PE2 19 +NX_Q76L83 1435 153820 9 0 Nucleoplasm;Nucleus Shashi-Pena syndrome PE1 2 +NX_Q76LX8 1427 153604 6.96 0 Secreted Thrombotic thrombocytopenic purpura congenital PE1 9 +NX_Q76M96 950 108174 9.72 0 Extracellular matrix NA PE1 3 +NX_Q76MJ5 926 102480 6.73 1 Endoplasmic reticulum membrane NA PE1 16 +NX_Q76N32 757 81102 5.04 0 Microtubule organizing center;Nucleus;Centrosome NA PE1 2 +NX_Q76N89 1606 179554 5.33 0 Cytoplasm;Cytosol NA PE1 7 +NX_Q76NI1 1749 191397 5.83 0 Perikaryon;Dendrite NA PE1 10 +NX_Q7KYR7 527 59633 6.08 1 Membrane;Cell membrane NA PE1 6 +NX_Q7KZ85 1726 199073 4.81 0 Cell membrane;Cytosol;Nucleus;Nucleoplasm NA PE1 17 +NX_Q7KZF4 910 101997 6.74 0 Cytosol;Cytoplasm;Nucleus;Melanosome NA PE1 7 +NX_Q7KZI7 788 87911 9.73 0 Cytoskeleton;Nucleoplasm;Cell membrane;Cell membrane;Lateral cell membrane;Cytoplasm NA PE1 11 +NX_Q7KZN9 410 46030 9.85 8 Mitochondrion;Mitochondrion membrane Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2;Leigh syndrome PE1 10 +NX_Q7L014 1031 117362 9.33 0 Nucleus speckle;Membrane;Nucleus;Nucleus speckle;Cajal body NA PE1 5 +NX_Q7L099 469 52965 5.36 0 Cytoplasm;Endomembrane system;Invadopodium;Perikaryon;Cytosol;Filopodium;Cell projection;Growth cone;Lamellipodium NA PE1 4 +NX_Q7L0J3 742 82695 5.38 12 Endoplasmic reticulum;Cytosol;Synapse;Synaptic vesicle membrane NA PE1 1 +NX_Q7L0L9 218 23184 10.99 2 Membrane NA PE2 1 +NX_Q7L0Q8 258 28218 8.39 0 Podosome;Cell membrane;Golgi apparatus membrane;Focal adhesion NA PE1 1 +NX_Q7L0R7 432 47728 6.4 0 Nucleoplasm NA PE2 5 +NX_Q7L0X0 811 88723 9.7 1 Membrane NA PE1 7 +NX_Q7L0X2 663 75255 4.87 0 NA NA PE2 3 +NX_Q7L0Y3 403 47347 9.4 0 Mitochondrion;Nucleoplasm;Mitochondrion nucleoid Combined oxidative phosphorylation deficiency 30 PE1 3 +NX_Q7L190 304 33541 9.57 0 Nucleus NA PE1 3 +NX_Q7L1I2 683 77444 5.26 12 Acrosome;Synaptic vesicle membrane NA PE1 15 +NX_Q7L1Q6 419 48043 5.75 0 Cytoplasmic vesicle NA PE1 2 +NX_Q7L1S5 443 52055 9.41 1 Secreted;Golgi apparatus membrane NA PE1 18 +NX_Q7L1T6 521 59474 7.6 0 Endoplasmic reticulum NA PE1 6 +NX_Q7L1V2 547 59217 5.88 0 Cytosol NA PE1 16 +NX_Q7L1W4 858 98201 7.76 4 Nucleoplasm;Endoplasmic reticulum membrane;Mitochondrion;Cell membrane NA PE1 1 +NX_Q7L211 337 38548 8.74 1 Cytosol;Membrane NA PE1 13 +NX_Q7L266 308 32055 5.84 0 Cytoskeleton;Nucleoplasm;Cytoplasm NA PE1 11 +NX_Q7L273 389 42567 5.95 0 Cytosol;Nucleoplasm;Cytoskeleton NA PE1 8 +NX_Q7L2E3 1194 133938 8.99 0 Cytoplasm;Mitochondrion nucleoid;Mitochondrion;Cytosol;Mitochondrion NA PE1 3 +NX_Q7L2H7 374 42503 5.41 0 Cytoplasm;Cytosol;Cytoplasm;Nucleus NA PE1 11 +NX_Q7L2J0 689 74355 9.62 0 Cell junction;Nucleoplasm NA PE1 7 +NX_Q7L2K0 433 46402 9.54 0 Cell junction;Nucleoplasm NA PE1 16 +NX_Q7L2R6 523 61633 8.92 0 Nucleus NA PE1 19 +NX_Q7L2Z9 268 30595 9.43 0 Nucleus;Centromere;Nucleoplasm NA PE1 6 +NX_Q7L311 632 65683 8.68 1 Nucleus;Mitochondrion;Mitochondrion;Mitochondrion outer membrane NA PE1 X +NX_Q7L3B6 337 38835 5.22 0 Cytoplasm;Cytosol NA PE1 9 +NX_Q7L3S4 317 35702 9.15 0 Nucleus;Nucleolus;Nucleus NA PE1 16 +NX_Q7L3T8 475 53263 8.45 0 Mitochondrion matrix;Nucleolus;Mitochondrion NA PE1 1 +NX_Q7L3V2 364 39299 4.93 0 Mitochondrion NA PE1 22 +NX_Q7L4E1 593 65531 5.62 2 Cell junction;Cytosol;Mitochondrion outer membrane NA PE1 9 +NX_Q7L4I2 434 50560 11.33 0 Cytoplasm;Nucleus;Nucleus speckle;Nucleolus;Cytosol NA PE1 12 +NX_Q7L4P6 421 48182 5.88 0 Nucleus speckle;Cytosol NA PE1 1 +NX_Q7L4S7 300 33019 4.69 1 Cytoplasm;Mitochondrion;Mitochondrion outer membrane;Nucleus membrane;Nucleus;Cytosol;Nucleus;Cell membrane NA PE1 X +NX_Q7L513 359 38927 5.22 0 Cytoplasm NA PE1 1 +NX_Q7L523 313 36566 7.62 0 Cytoplasm;Nucleus;Lysosome NA PE1 9 +NX_Q7L576 1253 145182 6.46 0 Cytoplasm;Perinuclear region;Lamellipodium;Ruffle;Synaptosome NA PE1 15 +NX_Q7L590 875 98183 8.96 0 Nucleolus;Nucleus;Nucleus NA PE1 10 +NX_Q7L591 496 53288 7.93 0 Cell membrane;Cytoplasm NA PE1 5 +NX_Q7L592 441 49238 8.47 0 Mitochondrion NA PE1 2 +NX_Q7L5A3 538 56690 9.09 0 Nucleus;Nucleolus;Nucleus NA PE1 9 +NX_Q7L5A8 372 42791 8.76 4 Nucleus membrane;Microsome membrane;Endoplasmic reticulum membrane Spastic paraplegia 35, autosomal recessive PE1 16 +NX_Q7L5D6 327 36504 5.29 0 Cytosol;Cytosol;Nucleoplasm;Nucleolus NA PE1 7 +NX_Q7L5L3 318 36596 8.13 2 Cytoskeleton;Membrane;Cytosol;Nucleoplasm;Perinuclear region;Endoplasmic reticulum NA PE1 16 +NX_Q7L5N1 327 36163 5.47 0 Nucleus;Nucleoplasm;Nucleus;Cytoplasm NA PE1 7 +NX_Q7L5N7 544 60208 6.14 1 Lipid droplet;Golgi apparatus membrane;Endoplasmic reticulum membrane;Lipid droplet;Endoplasmic reticulum NA PE1 16 +NX_Q7L5Y1 443 49786 6.03 0 Mitochondrion NA PE1 18 +NX_Q7L5Y6 550 63848 7.32 0 Nucleoplasm;Cytoskeleton;Nucleus NA PE1 15 +NX_Q7L5Y9 396 45287 8.95 0 Nucleoplasm;Nucleus matrix;Cell membrane;Cytoskeleton NA PE1 4 +NX_Q7L622 706 80504 7.9 0 Cytoplasm;Nucleolus NA PE1 14 +NX_Q7L775 607 70370 5.77 0 Endoplasmic reticulum NA PE1 3 +NX_Q7L7L0 130 14121 11.05 0 Nucleus;Chromosome NA PE1 1 +NX_Q7L7V1 743 84419 4.88 0 Nucleus;Mitochondrion NA PE1 10 +NX_Q7L7X3 1001 116070 7.3 0 Cytoplasm NA PE1 17 +NX_Q7L804 512 58279 9.33 0 Cytoplasmic vesicle;Nucleoplasm;Cell membrane;Recycling endosome membrane NA PE1 10 +NX_Q7L8A9 365 40957 9.5 0 Secreted NA PE1 14 +NX_Q7L8C5 426 46885 7.6 1 Golgi apparatus;Cytoplasmic vesicle;Membrane NA PE1 11 +NX_Q7L8J4 393 43499 5.57 0 Golgi apparatus;Cytoplasmic vesicle;Nucleoplasm NA PE1 1 +NX_Q7L8L6 764 86574 8.41 0 Mitochondrion nucleoid NA PE1 20 +NX_Q7L8S5 288 33300 6.29 0 NA NA PE1 X +NX_Q7L8W6 267 30307 5.24 0 Nucleus;Nucleolus NA PE1 15 +NX_Q7L945 461 52853 9.18 0 Nucleolus;Nucleus;Nucleus NA PE1 19 +NX_Q7L985 606 68066 8.44 1 Membrane NA PE1 9 +NX_Q7L9B9 569 62403 8.64 0 Nucleus speckle;Cytoplasmic vesicle;Cell membrane NA PE1 7 +NX_Q7L9L4 216 25091 6.24 0 Cytoplasm;Nucleus NA PE1 4 +NX_Q7LBC6 1761 191581 6.78 0 Nucleus;Nucleoplasm NA PE1 5 +NX_Q7LBE3 791 86988 8.47 13 Membrane;Nucleus;Cell junction NA PE1 1 +NX_Q7LBR1 199 22109 7.81 0 Nucleus;Late endosome membrane;Midbody;Cytosol;Endosome NA PE1 18 +NX_Q7LC44 396 45316 5.45 0 Cytoskeleton;Synapse;Cytoplasmic vesicle;Cytoskeleton;Endosome;Acrosome;Postsynaptic density;Dendrite;Dendritic spine NA PE1 8 +NX_Q7LDG7 609 69248 7.89 0 Synaptosome;Ruffle membrane;Cell membrane;Cytosol Bleeding disorder, platelet-type 18 PE1 11 +NX_Q7LDI9 666 74079 9.11 0 Cell membrane NA PE1 7 +NX_Q7LFL8 322 32977 9.27 0 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA PE1 5 +NX_Q7LFX5 561 64926 8.56 1 Centrosome;Cytosol;Golgi apparatus membrane NA PE1 10 +NX_Q7LG56 351 40737 4.89 0 Nucleus;Nucleoplasm;Cytoplasm;Cytosol Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5;Mitochondrial DNA depletion syndrome 8A;Mitochondrial DNA depletion syndrome 8B PE1 8 +NX_Q7LGA3 356 41881 8.83 1 Mitochondrion;Golgi apparatus membrane NA PE1 1 +NX_Q7LGC8 479 54706 8.84 1 Cytosol;Golgi apparatus;Golgi apparatus membrane Spondyloepiphyseal dysplasia with congenital joint dislocations PE1 10 +NX_Q7M4L6 423 46768 6.01 0 Nucleus NA PE1 15 +NX_Q7RTM1 612 67353 8.71 10 Extracellular space;Membrane NA PE2 4 +NX_Q7RTN6 431 48369 6.02 0 Cytosol;Nucleoplasm;Cytoplasm;Nucleus NA PE1 17 +NX_Q7RTP0 329 34562 8.7 9 Cell membrane;Early endosome Spastic paraplegia 6, autosomal dominant PE1 15 +NX_Q7RTP6 2002 224295 5.43 0 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Cell cortex;Cilium basal body;Spindle;Midbody;Nucleus;Cytoskeleton NA PE1 22 +NX_Q7RTR0 991 113312 6.08 0 Cytoplasm;Inflammasome NA PE1 19 +NX_Q7RTR2 1065 114658 8.64 0 Cytosol;Microtubule organizing center;Cytoplasm NA PE1 16 +NX_Q7RTR8 314 36195 9.64 7 Membrane;Focal adhesion;Nucleoplasm;Cytoskeleton NA PE2 12 +NX_Q7RTS1 189 20818 11.26 0 Nucleoplasm;Nucleus;Golgi apparatus NA PE1 7 +NX_Q7RTS3 328 34970 5.1 0 Nucleus;Nucleoplasm;Cytoplasm Pancreatic agenesis 2;Pancreatic and cerebellar agenesis PE1 10 +NX_Q7RTS5 596 66296 8.96 12 Membrane NA PE1 17 +NX_Q7RTS6 562 62236 7.04 10 Membrane NA PE1 17 +NX_Q8WZ42 34350 3816030 6.02 0 Cytoplasm;Nucleus Early-onset myopathy with fatal cardiomyopathy;Cardiomyopathy, familial hypertrophic 9;Cardiomyopathy, dilated 1G;Tardive tibial muscular dystrophy;Hereditary myopathy with early respiratory failure;Limb-girdle muscular dystrophy 2J PE1 2
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/tool-data/nextprot_ref_31-07-2020.tsv Thu Aug 20 03:09:52 2020 -0400 @@ -0,0 +1,20338 @@ +NextprotID ProteinName SeqLength MW IsoPoint TMDomains SubcellLocations Diseases Function PostTranslationalModifications ProteinFamily Pathway ProteinExistence Chr +NX_A0A024RBG1 Diphosphoinositol polyphosphate phosphohydrolase NUDT4B 181 20434 5.99 0 Cytoplasm NA Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), PP-InsP4 and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphate Ap6A, but not Ap5A. The major reaction products are ADP and p4a from Ap6A. Also able to hydrolyze 5-phosphoribose 1-diphosphate. Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA. NA Belongs to the Nudix hydrolase family. DIPP subfamily. NA PE1 1 +NX_A0A075B6H9 Immunoglobulin lambda variable 4-69 119 12773 6.01 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A075B6I0 Immunoglobulin lambda variable 8-61 122 12814 4.33 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A075B6I1 Immunoglobulin lambda variable 4-60 120 12987 5.8 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A075B6I4 Immunoglobulin lambda variable 10-54 117 12395 7.85 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A075B6I9 Immunoglobulin lambda variable 7-46 117 12468 6.69 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A075B6J1 Immunoglobulin lambda variable 5-37 123 13277 4.75 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A075B6J6 Immunoglobulin lambda variable 3-22 115 12549 3.95 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A075B6J9 Immunoglobulin lambda variable 2-18 118 12412 4.66 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A075B6K0 Immunoglobulin lambda variable 3-16 115 12466 4.58 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A075B6K2 Immunoglobulin lambda variable 3-12 115 12387 5.34 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A075B6K4 Immunoglobulin lambda variable 3-10 115 12441 4.72 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A075B6K5 Immunoglobulin lambda variable 3-9 115 12332 6.81 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A075B6K6 Immunoglobulin lambda variable 4-3 122 13330 5.39 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A075B6N1 T cell receptor beta variable 19 114 12769 6.53 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 7 +NX_A0A075B6N2 T cell receptor beta variable 20-1 111 12175 8.52 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 7 +NX_A0A075B6N3 T cell receptor beta variable 24-1 115 12929 7.68 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A075B6N4 T cell receptor beta variable 25-1 114 12983 5.91 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A075B6P5 Immunoglobulin kappa variable 2-28 120 12957 5.61 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_A0A075B6Q5 Immunoglobulin heavy variable 3-64 118 12891 7.69 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A075B6R0 T cell receptor gamma variable 2 118 13310 7.75 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) gamma chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714). NA NA NA PE1 7 +NX_A0A075B6R2 Immunoglobulin heavy variable 4-4 117 12848 9.64 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A075B6S0 T cell receptor gamma joining 1 16 1791 9.53 0 Cell membrane NA J region of the variable domain of T cell receptor (TR) gamma chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:28920588, PubMed:23348415). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714). NA NA NA PE1 7 +NX_A0A075B6S2 Immunoglobulin kappa variable 2D-29 120 13143 6.53 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 2 +NX_A0A075B6S4 Immunoglobulin kappa variable 1D-17 117 12835 9.22 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 2 +NX_A0A075B6S5 Immunoglobulin kappa variable 1-27 117 12712 8.5 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 2 +NX_A0A075B6S6 Immunoglobulin kappa variable 2D-30 120 13215 7.79 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_A0A075B6T6 T cell receptor alpha variable 12-2 113 12838 6.17 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 14 +NX_A0A075B6T7 T cell receptor alpha variable 6 132 15362 9.2 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A075B6T8 T cell receptor alpha variable 9-1 112 12354 4.83 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A075B6U4 T cell receptor alpha variable 7 112 12598 8.39 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A075B6V5 T cell receptor alpha variable 36/delta variable 7 113 12697 6.57 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A075B6W5 T cell receptor alpha variable 23/delta variable 6 121 13545 8.45 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A075B6X5 T cell receptor alpha variable 18 111 12414 5.26 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A075B6Y3 T cell receptor alpha joining 3 20 2097 11 0 Cell membrane NA J region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE4 14 +NX_A0A075B6Y9 T cell receptor alpha joining 42 20 2051 10 0 Cell membrane NA J region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn, ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE4 14 +NX_A0A075B706 T cell receptor delta joining 1 16 1761 8.26 0 Cell membrane NA J region of the variable domain of T cell receptor (TR) delta chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:28920588, PubMed:23348415). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714). NA NA NA PE1 14 +NX_A0A075B759 Peptidyl-prolyl cis-trans isomerase A-like 4E 164 18197 9.43 0 Cytoplasm NA PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity). NA Belongs to the cyclophilin-type PPIase family. PPIase A subfamily. NA PE2 1 +NX_A0A075B767 Peptidyl-prolyl cis-trans isomerase A-like 4H 164 18208 9.19 0 Cytoplasm NA PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. NA Belongs to the cyclophilin-type PPIase family. PPIase A subfamily. NA PE1 1 +NX_A0A087WSX0 Immunoglobulin lambda variable 5-45 123 13162 6.69 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A087WSY4 Immunoglobulin heavy variable 4-30-2 118 13025 9.7 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 3 +NX_A0A087WSY6 Immunoglobulin kappa variable 3D-15 115 12534 5.14 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 2 +NX_A0A087WSZ0 Immunoglobulin kappa variable 1D-8 117 12837 7.62 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 2 +NX_A0A087WSZ9 T cell receptor alpha variable 30 112 12582 8.58 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A087WT01 T cell receptor alpha variable 27 109 12043 5.7 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn, ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 14 +NX_A0A087WT02 T cell receptor alpha variable 9-2 112 12289 5.26 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A087WT03 T cell receptor alpha variable 26-1 109 12306 7.76 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 14 +NX_A0A087WTH1 Transmembrane protein 265 108 11832 7.61 2 Membrane NA NA NA Belongs to the CD225/Dispanin family. NA PE2 16 +NX_A0A087WTH5 Potassium voltage-gated channel subfamily E member 1B 132 15028 8.73 1 Membrane NA NA NA Belongs to the potassium channel KCNE family. NA PE2 21 +NX_A0A087WUL8 Neuroblastoma breakpoint family member 19 3843 440408 4.53 0 Cytoplasm NA NA NA Belongs to the NBPF family. NA PE5 1 +NX_A0A087WV53 SPEG neighbor protein 238 26075 5.45 0 NA NA NA NA NA NA PE4 2 +NX_A0A087WV62 T cell receptor beta variable 16 115 12845 6.7 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A087WVF3 TBC1 domain family member 3D 549 62187 9.2 0 Cell membrane NA Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination.;Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation. NA NA PE2 17 +NX_A0A087WW87 Immunoglobulin kappa variable 2-40 121 13310 4.43 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 2 +NX_A0A087WWA1 PIK3R3 upstream open reading frame protein 95 10952 12.38 0 NA NA NA NA NA NA PE1 1 +NX_A0A087WX78 Putative elongin-A3 member C 387 41674 8.87 0 Nucleus NA SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex). NA NA NA PE5 18 +NX_A0A087WXM9 Meiosis-specific kinetochore protein 373 40829 8.65 0 Centromere;Kinetochore NA Key regulator of kinetochore function during meiosis I: required both for mono-orientation of kinetochores on sister chromosomes and protection of centromeric cohesin from separase-mediated cleavage. Acts by facilitating kinetochore mono-orientation during meiosis I, when kinetochores on sister chromosomes face the same direction and are thus captured and pulled by spindle fibers from the same pole. Also required to prevent cleavage of cohesin at centromeres during meiosis I, possibly by acting as a regulator of the shugoshin-dependent protection pathway. Acts in collaboration with PLK1: required for PLK1 enrichment to kinetochores. Not required during meiosis II or mitosis. NA NA NA PE1 5 +NX_A0A087WXS9 TBC1 domain family member 3I 549 62205 9.2 0 Cell membrane NA Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination.;Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation. NA NA PE2 17 +NX_A0A087X0M5 T cell receptor beta variable 18 115 13028 9.14 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A087X179 TBC1 domain family member 3E 549 62131 9.18 0 Cell membrane NA Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation.;Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination. NA NA PE2 17 +NX_A0A087X1C5 Putative cytochrome P450 2D7 515 57489 8.7 2 Membrane;Cytoplasm;Mitochondrion NA May be responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It may be involved in the metabolism of codeine to morphine (PubMed:15051713). However, another study could not confirm it (PubMed:18838503). NA Belongs to the cytochrome P450 family. NA PE5 22 +NX_A0A087X1G2 TBC1 domain family member 3K 549 62171 9.23 0 Cell membrane NA Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation.;Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination. NA NA PE2 17 +NX_A0A096LNP1 Beta-defensin 131B 70 8156 8.26 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. NA PE2 11 +NX_A0A096LP01 Small integral membrane protein 26 95 10908 6.24 1 Membrane;Nucleoplasm;Cytosol NA NA NA NA NA PE1 20 +NX_A0A096LP49 Coiled-coil domain-containing protein 187 1063 114856 9.76 0 NA NA NA NA NA NA PE1 9 +NX_A0A096LP55 Cytochrome b-c1 complex subunit 6-like, mitochondrial 91 10752 4.39 0 Mitochondrion inner membrane NA May be a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1. NA Belongs to the UQCRH/QCR6 family. NA PE2 1 +NX_A0A096LPI5 Protein GVQW2 108 11989 8.8 0 NA NA NA NA NA NA PE2 6 +NX_A0A0A0MRZ7 Immunoglobulin kappa variable 2D-26 120 13297 4.9 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 2 +NX_A0A0A0MRZ8 Immunoglobulin kappa variable 3D-11 115 12625 5.15 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE3 2 +NX_A0A0A0MRZ9 Immunoglobulin lambda variable 5-52 124 13446 7.76 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A0A0MS14 Immunoglobulin heavy variable 1-45 117 13508 9.2 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0A0MS15 Immunoglobulin heavy variable 3-49 119 13056 8.84 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0A0MT36 Immunoglobulin kappa variable 6D-21 114 12340 6.7 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE3 2 +NX_A0A0A0MT70 T cell receptor beta joining 2-6 17 1663 9.47 0 Cell membrane NA J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE4 7 +NX_A0A0A0MT76 Immunoglobulin lambda joining 1 42 4776 9.53 0 Secreted;Cell membrane NA J region of the variable domain of immunoglobulin lambda light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE4 22 +NX_A0A0A0MT78 T cell receptor beta joining 2-7 15 1719 5.72 0 Cell membrane NA J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn, ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE4 7 +NX_A0A0A0MT87 T cell receptor beta joining 2-4 16 1738 9.99 0 Cell membrane NA J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE4 7 +NX_A0A0A0MT89 Immunoglobulin kappa joining 1 12 1394 8.59 0 Secreted;Cell membrane NA J region of the variable domain of immunoglobulin kappa light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE4 2 +NX_A0A0A0MT94 T cell receptor beta joining 2-2 16 1740 4.53 0 Cell membrane NA J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE4 7 +NX_A0A0A0MTA4 T cell receptor beta joining 2-5 15 1722 6 0 Cell membrane NA J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE4 7 +NX_A0A0A0MTA7 T cell receptor beta joining 2-1 16 1829 5.72 0 Cell membrane NA J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE4 7 +NX_A0A0A6YYC5 T cell receptor alpha variable 14/delta variable 4 116 12931 5.34 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 14 +NX_A0A0A6YYD4 T cell receptor beta variable 13 124 13967 5.84 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A0A6YYG2 T cell receptor beta variable 6-6 114 12632 7.63 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A0A6YYG3 T cell receptor beta variable 6-8 113 12321 7.66 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A0A6YYJ7 T cell receptor alpha variable 8-3 113 12676 6.81 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0A6YYK1 T cell receptor alpha variable 8-1 113 12788 7.81 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0A6YYK6 T cell receptor alpha variable 16 109 12578 9.51 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0A6YYK7 T cell receptor alpha variable 19 116 13195 4.75 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 14 +NX_A0A0A6YYL3 POTE ankyrin domain family member B 544 61708 5.75 0 NA NA NA NA Belongs to the POTE family. NA PE1 15 +NX_A0A0B4J1U3 Immunoglobulin lambda variable 1-36 117 12478 4.56 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A0B4J1U4 T cell receptor gamma variable 5 118 13601 8.95 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) gamma chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714). NA NA NA PE1 7 +NX_A0A0B4J1U6 T cell receptor beta variable 9 114 12608 5.82 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A0B4J1U7 Immunoglobulin heavy variable 6-1 121 13481 9.3 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0B4J1V0 Immunoglobulin heavy variable 3-15 119 12926 8.84 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0B4J1V1 Immunoglobulin heavy variable 3-21 117 12840 8.49 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0B4J1V2 Immunoglobulin heavy variable 2-26 119 13182 8.49 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0B4J1V6 Immunoglobulin heavy variable 3-73 119 12858 9.3 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0B4J1X5 Immunoglobulin heavy variable 3-74 117 12840 8.91 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0B4J1X8 Immunoglobulin heavy variable 3-43 118 13077 5.28 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0B4J1Y8 Immunoglobulin lambda variable 9-49 123 13024 6.7 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A0B4J1Y9 Immunoglobulin heavy variable 3-72 119 13203 7.69 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0B4J1Z2 Immunoglobulin kappa variable 1D-43 117 12989 9.1 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 2 +NX_A0A0B4J200 T cell receptor beta joining 2-3 16 1756 5.55 0 Cell membrane NA J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE4 7 +NX_A0A0B4J234 T cell receptor alpha variable 2 112 12502 6.71 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0B4J235 T cell receptor alpha variable 13-2 113 12716 6.71 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0B4J237 T cell receptor alpha variable 8-2 113 12429 6.89 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0B4J238 T cell receptor alpha variable 1-2 106 11863 5.19 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0B4J240 T cell receptor alpha variable 10 114 12852 9.07 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0B4J241 T cell receptor alpha variable 13-1 112 12580 5.5 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 14 +NX_A0A0B4J244 T cell receptor alpha variable 3 114 12614 7.74 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0B4J245 T cell receptor alpha variable 12-1 112 12865 7.68 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0B4J248 T cell receptor alpha variable 1-1 108 11926 4.49 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0B4J249 T cell receptor alpha variable 5 113 12968 4.78 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0B4J262 T cell receptor alpha variable 8-6 113 12690 5.17 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0B4J263 T cell receptor alpha variable 39 110 12540 7.76 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 14 +NX_A0A0B4J264 T cell receptor alpha variable 38-1 116 13297 6.2 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0B4J265 T cell receptor alpha variable 26-2 109 12172 6.17 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0B4J266 T cell receptor alpha variable 41 112 12352 9.22 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0B4J268 T cell receptor alpha variable 4 109 12215 7.76 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 14 +NX_A0A0B4J271 T cell receptor alpha variable 12-3 114 13173 7.71 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 14 +NX_A0A0B4J272 T cell receptor alpha variable 24 114 12919 5.51 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 14 +NX_A0A0B4J273 T cell receptor alpha variable 34 112 12465 6.28 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0B4J274 T cell receptor alpha variable 20 112 12682 5.02 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 14 +NX_A0A0B4J275 T cell receptor alpha variable 17 112 12500 7.81 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0B4J276 T cell receptor alpha variable 25 109 12388 9 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0B4J277 T cell receptor alpha variable 22 110 12145 6.54 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 14 +NX_A0A0B4J279 T cell receptor alpha variable 21 112 12289 5.21 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 14 +NX_A0A0B4J280 T cell receptor alpha variable 40 105 11556 6.1 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0A0B4J2A2 Peptidyl-prolyl cis-trans isomerase A-like 4C 164 18156 9.32 0 Cytoplasm NA PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity). NA Belongs to the cyclophilin-type PPIase family. PPIase A subfamily. NA PE2 1 +NX_A0A0B4J2D5 Glutamine amidotransferase-like class 1 domain-containing protein 3B, mitochondrial 268 28142 8.5 0 Mitochondrion NA NA NA Belongs to the GATD3 family. NA PE1 21 +NX_A0A0B4J2D9 Immunoglobulin kappa variable 1D-13 117 12569 7.68 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 2 +NX_A0A0B4J2E0 T cell receptor beta variable 12-4 115 12982 5.84 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 7 +NX_A0A0B4J2F0 Protein PIGBOS1 54 6313 8.04 0 Secreted NA NA NA NA NA PE1 15 +NX_A0A0B4J2F2 Probable serine/threonine-protein kinase SIK1B 783 84930 6.81 0 NA NA Probable serine/threonine-protein kinase. NA Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. AMPK subfamily. NA PE2 21 +NX_A0A0B4J2H0 Immunoglobulin heavy variable 1-69D 117 12660 8.64 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0C4DH24 Immunoglobulin kappa variable 6-21 114 12430 6.7 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE3 2 +NX_A0A0C4DH25 Immunoglobulin kappa variable 3D-20 116 12515 4.46 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_A0A0C4DH27 T cell receptor gamma variable 8 118 13335 8.55 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) gamma chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714). NA NA NA PE1 7 +NX_A0A0C4DH28 T cell receptor gamma variable 4 118 13152 6.71 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) gamma chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714). NA NA NA PE1 7 +NX_A0A0C4DH29 Immunoglobulin heavy variable 1-3 117 13008 9.59 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0C4DH31 Immunoglobulin heavy variable 1-18 117 12820 8.98 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0C4DH32 Immunoglobulin heavy variable 3-20 117 12673 7.71 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0C4DH33 Immunoglobulin heavy variable 1-24 117 12824 5.04 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0C4DH34 Immunoglobulin heavy variable 4-28 117 13124 9.36 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0C4DH38 Immunoglobulin heavy variable 5-51 117 12675 8.45 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0C4DH39 Immunoglobulin heavy variable 1-58 117 13005 9.34 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0C4DH41 Immunoglobulin heavy variable 4-61 118 13066 9.36 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE3 14 +NX_A0A0C4DH42 Immunoglobulin heavy variable 3-66 116 12698 8.38 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0C4DH43 Immunoglobulin heavy variable 2-70D 119 13312 8.5 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0C4DH55 Immunoglobulin kappa variable 3D-7 119 13148 5.64 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 2 +NX_A0A0C4DH59 T cell receptor beta variable 5-4 114 12518 5.52 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A0C4DH62 Immunoglobulin heavy joining 1 17 1910 5.24 0 Secreted;Cell membrane NA J region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE4 14 +NX_A0A0C4DH67 Immunoglobulin kappa variable 1-8 115 12537 9.21 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 2 +NX_A0A0C4DH68 Immunoglobulin kappa variable 2-24 120 13079 8.74 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 2 +NX_A0A0C4DH69 Immunoglobulin kappa variable 1-9 117 12715 8.52 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 2 +NX_A0A0C4DH72 Immunoglobulin kappa variable 1-6 117 12697 8.52 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 2 +NX_A0A0C4DH73 Immunoglobulin kappa variable 1-12 117 12645 8.55 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE3 2 +NX_A0A0C5B5G6 Mitochondrial-derived peptide MOTS-c 16 2175 10.27 0 Secreted NA Regulates insulin sensitivity and metabolic homeostasis. Inhibits the folate cycle, thereby reducing de novo purine biosynthesis which leads to the accumulation of the de novo purine synthesis intermediate 5-aminoimidazole-4-carboxamide (AICAR) and the activation of the metabolic regulator 5'-AMP-activated protein kinase (AMPK). Protects against age-dependent and diet-induced insulin resistance as well as diet-induced obesity. NA NA NA PE1 MT +NX_A0A0D9SF12 Transmembrane protein CCDC163 145 16203 8.31 1 Membrane NA NA NA NA NA PE2 1 +NX_A0A0G2JMD5 PRAME family member 33 474 55092 8.62 0 NA NA NA NA Belongs to the PRAME family. NA PE3 1 +NX_A0A0G2JMI3 Immunoglobulin heavy variable 1-69-2 117 12871 4.72 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0G2JS06 Immunoglobulin lambda variable 5-39 123 13394 8.84 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA NA PE1 22 +NX_A0A0J9YVY3 Immunoglobulin heavy variable 7-4-1 117 12849 8.86 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0J9YWL9 Putative testis-expressed protein 13C 993 109806 8.94 0 NA NA NA NA Belongs to the TEX13 family. NA PE5 X +NX_A0A0J9YWP8 T cell receptor beta joining 1-3 16 1730 4 0 Cell membrane NA J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE4 7 +NX_A0A0J9YWX3 T cell receptor beta joining 1-6 17 1864 8.49 0 Cell membrane NA J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE4 7 +NX_A0A0J9YX06 T cell receptor beta joining 1-2 15 1635 8.59 0 Cell membrane NA J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE4 7 +NX_A0A0J9YX35 Immunoglobulin heavy variable 3-64D 117 12823 7.68 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0J9YX75 T cell receptor beta variable 6-9 114 12484 6.8 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A0J9YX94 Paraneoplastic antigen Ma6F 578 60071 4.47 0 NA NA NA NA NA NA PE1 X +NX_A0A0J9YXA8 T cell receptor beta joining 1-1 15 1640 6 0 Cell membrane NA J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE4 7 +NX_A0A0J9YXG5 T cell receptor beta joining 1-4 16 1741 5.66 0 Cell membrane NA J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE4 7 +NX_A0A0J9YXM7 T cell receptor beta joining 1-5 16 1770 6.46 0 Cell membrane NA J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE4 7 +NX_A0A0J9YXQ4 Paraneoplastic antigen Ma6E 647 65155 4.62 0 NA NA NA NA NA NA PE1 X +NX_A0A0J9YXX1 Immunoglobulin heavy variable 5-10-1 117 12773 8.46 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_A0A0J9YXY3 T cell receptor beta variable 6-2 114 12525 8.38 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 7 +NX_A0A0J9YY54 Testis-expressed protein 13D 714 78886 7.31 0 NA NA NA NA Belongs to the TEX13 family. NA PE1 X +NX_A0A0K0K1A3 T cell receptor beta variable 10-1 114 12970 6.36 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A0K0K1A5 T cell receptor beta variable 6-5 114 12402 6.01 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 7 +NX_A0A0K0K1B3 T cell receptor beta variable 30 111 12225 8.57 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A0K0K1C0 T cell receptor beta variable 11-1 115 12817 4.72 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A0K0K1C4 T cell receptor beta variable 27 114 12838 8.45 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A0K0K1D8 T cell receptor beta variable 6-1 114 12632 7.64 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A0K0K1E9 T cell receptor beta variable 7-7 115 12787 6.71 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A0K0K1G6 T cell receptor beta variable 10-3 114 13035 6.58 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A0K0K1G8 T cell receptor beta variable 10-2 114 13045 7.75 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A0K2S4Q6 Protein CD300H 201 21806 5.37 1 Membrane;Secreted NA May play an important role in innate immunity by mediating a signal for the production of a neutrophil chemoattractant. NA Belongs to the CD300 family. NA PE1 17 +NX_A0A0U1RQE8 Putative glycine N-acyltransferase-like protein 1B 302 34553 8.56 0 NA NA Putative acyltransferase which transfers an acyl group to the N-terminus of glutamine. Can use phenylacetyl-CoA as an acyl donor. NA Belongs to the glycine N-acyltransferase family. NA PE1 11 +NX_A0A0U1RQF7 DPEP2 neighbor protein 123 13402 9.67 0 NA NA NA NA NA NA PE1 16 +NX_A0A0U1RQI7 Kruppel-like factor 18 1052 112602 4.73 0 Nucleus NA NA NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE2 1 +NX_A0A0U1RQS6 Transmembrane protein 275 177 17236 8.13 2 Membrane NA NA NA NA NA PE1 1 +NX_A0A0U1RR11 Centromere protein V-like protein 1 272 29887 10.16 0 NA NA NA NA Belongs to the Gfa family. NA PE2 X +NX_A0A0U1RR37 Uncharacterized protein C1orf232 186 20280 4.63 0 NA NA NA NA NA NA PE2 1 +NX_A0A0U1RRE5 Negative regulator of P-body association 68 7025 9.51 0 P-body NA Promotes dispersal of P-body components and is likely to play a role in the mRNA decapping process. NA NA NA PE1 X +NX_A0A0U1RRI6 Centromere protein V-like protein 3 287 31262 9.8 0 NA NA NA NA Belongs to the Gfa family. NA PE1 X +NX_A0A0U1RRK4 LBH domain-containing protein 2 108 10701 4.78 0 NA NA NA NA NA NA PE1 14 +NX_A0A0U1RRL7 Protein MMP24OS 71 7680 4.64 0 NA NA NA NA NA NA PE1 20 +NX_A0A0U1RRN3 Putative transmembrane protein SPTY2D1OS 59 6977 6.54 1 Membrane NA NA NA NA NA PE2 11 +NX_A0A140G945 Alpha-crystallin A2 chain 173 19909 5.77 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Contributes to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. Acetylation at Lys-70 seems to increase chaperone activity.;Phosphorylation on Ser-122 seems to be developmentally regulated. Absent in the first months of life, it appears during the first 12 years of human lifetime. The relative amount of phosphorylated form versus unphosphorylated form does not change over the lifetime of the individual.;Undergoes age-dependent proteolytical cleavage at the C-terminus. Alpha-crystallin A(1-172) is the most predominant form produced most rapidly during the first 12 years of age and after this age is present in approximately 50% of the lens molecules.;Deamidation of Asn-101 in lens occurs mostly during the first 30 years of age, followed by a small additional amount of deamidation (approximately 5%) during the next approximately 38 years, resulting in a maximum of approximately 50% deamidation during the lifetime of the individual.;O-glycosylated; contains N-acetylglucosamine side chains. Belongs to the small heat shock protein (HSP20) family. NA PE1 21 +NX_A0A183 Late cornified envelope protein 6A 80 9022 9.13 0 NA NA Precursors of the cornified envelope of the stratum corneum. NA Belongs to the LCE family. Formation of the cornified envelope PE2 1 +NX_A0A1B0GTC6 Uncharacterized protein C3orf85 90 10386 5.44 0 NA NA NA NA NA NA PE1 3 +NX_A0A1B0GTD5 Testis-expressed protein 49 131 15631 9.56 0 NA NA NA NA NA NA PE1 12 +NX_A0A1B0GTH6 Casein kinase II subunit alpha'-interacting protein 734 81798 10.01 0 Nucleus NA May play a role in chromatin regulation of male germ cells. Phosphorylated by CK2 (casein kinase II), specifically by complexes containing catalytic subunit CSNK2A2. NA NA PE1 3 +NX_A0A1B0GTI1 Coiled-coil domain-containing protein 201 187 20621 9.04 0 NA NA NA NA NA NA PE2 7 +NX_A0A1B0GTI8 Transmembrane protein 272 187 21340 5.46 4 Membrane NA NA NA NA NA PE2 13 +NX_A0A1B0GTK4 Protein FAM237A 181 20560 8.96 1 Membrane NA NA NA NA NA PE2 2 +NX_A0A1B0GTK5 Protein FAM236D 79 8682 8.8 0 NA NA NA NA Belongs to the FAM236 family. NA PE2 X +NX_A0A1B0GTL2 Uncharacterized protein C20orf204 189 20914 11.95 0 NA NA NA NA NA NA PE1 20 +NX_A0A1B0GTQ4 Protein myomixer 84 9607 11.45 1 Cytoplasmic vesicle;Cytosol;Mitochondrion;Cell membrane NA Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers. Involved in membrane fusion downstream of the lipid mixing step mediated by MYMK. Acts by generating membrane stresses via its extracellular C-terminus, leading to drive fusion pore formation. Acts independently of MYMK. Involved in skeletal muscle regeneration in response to injury by mediating the fusion of satellite cells, a population of muscle stem cells, with injured myofibers. NA Belongs to the MYMX family. NA PE2 6 +NX_A0A1B0GTR0 Epididymal protein 13 161 18455 8.6 0 Secreted NA NA NA NA NA PE3 19 +NX_A0A1B0GTR3 Uncharacterized protein CXorf51A 108 12028 10.8 0 NA NA NA NA NA NA PE1 X +NX_A0A1B0GTR4 Putative small proline-rich protein 5 108 11945 8.55 0 NA NA NA NA NA NA PE5 1 +NX_A0A1B0GTS1 Heat shock transcription factor, X-linked member 4 333 37155 6.48 0 Nucleus NA NA NA Belongs to the HSF family. NA PE2 X +NX_A0A1B0GTU1 Zinc finger CCCH domain-containing protein 11B 805 88937 6.4 0 NA NA May play a role in mRNA transport. NA NA NA PE1 1 +NX_A0A1B0GTU2 Cortexin domain-containing 1 59 6734 4.19 1 Membrane NA NA NA NA NA PE2 15 +NX_A0A1B0GTW7 Leishmanolysin-like peptidase 2 788 85397 8.04 1 Membrane NA Metalloprotease. NA Belongs to the peptidase M8 family. NA PE2 14 +NX_A0A1B0GTY4 Testis-expressed protein 50 177 20847 9.36 1 Membrane NA NA NA NA NA PE1 1 +NX_A0A1B0GTZ2 Putative coiled-coil domain-containing protein 196 297 34479 8.83 0 NA NA NA NA NA NA PE5 14 +NX_A0A1B0GU29 Small integral membrane protein 28 152 16551 4.52 1 Membrane NA NA NA NA NA PE2 6 +NX_A0A1B0GU33 Testis-expressed protein 53 70 8127 10.53 0 NA NA NA NA NA NA PE1 9 +NX_A0A1B0GU71 Uncharacterized protein CFAP97D2 98 11681 10.74 0 NA NA NA NA Belongs to the CFAP97 family. NA PE2 13 +NX_A0A1B0GUA5 Small integral membrane protein 32 103 10859 9.03 1 Membrane NA NA NA NA NA PE2 5 +NX_A0A1B0GUA6 Putative coiled-coil domain-containing protein 195 201 21921 8.34 0 NA NA NA NA NA NA PE5 2 +NX_A0A1B0GUA7 Testis-expressed protein 51 166 18842 7.59 1 Membrane NA NA NA NA NA PE2 2 +NX_A0A1B0GUA9 Uncharacterized protein C13orf46 212 23433 4.84 0 NA NA NA NA NA NA PE1 13 +NX_A0A1B0GUC4 Myocilin opposite strand protein 108 12046 9 0 NA NA NA NA NA NA PE2 1 +NX_A0A1B0GUI7 Putative uncharacterized protein BRD3OS 84 9747 9.66 0 NA NA NA NA NA NA PE5 9 +NX_A0A1B0GUJ8 Paraneoplastic antigen-like protein 8C 204 22873 9.07 0 NA NA NA NA Belongs to the PNMA family. NA PE2 19 +NX_A0A1B0GUQ0 Protein FAM236A 79 8715 7.8 0 NA NA NA NA Belongs to the FAM236 family. NA PE2 X +NX_A0A1B0GUS0 Uncharacterized protein C19orf85 222 23875 6.04 0 NA NA NA NA NA NA PE2 19 +NX_A0A1B0GUS4 Ubiquitin-conjugating enzyme E2 L5 154 17875 7.67 0 NA NA Catalyzes the covalent attachment of ubiquitin to other proteins. NA Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination. PE1 13 +NX_A0A1B0GUT2 Uncharacterized protein C10orf143 108 11738 9.21 0 NA NA NA NA NA NA PE2 10 +NX_A0A1B0GUU1 Transmembrane protein C17orf113 675 72432 5.84 1 Membrane NA NA NA NA NA PE2 17 +NX_A0A1B0GUV7 Testis-expressed protein 48 120 13937 8.99 0 NA NA NA NA NA NA PE2 9 +NX_A0A1B0GUW6 Uncharacterized protein SPEM3 1196 128649 8.57 1 Membrane NA NA NA NA NA PE1 17 +NX_A0A1B0GUW7 Small integral membrane protein 27 55 6429 10.13 1 Membrane NA NA NA NA NA PE3 9 +NX_A0A1B0GUX0 Protein ATP6V1FNB 176 20389 9.87 0 NA NA NA NA NA NA PE1 7 +NX_A0A1B0GUY1 MARCO-like protein 285 29775 10.29 0 NA NA NA NA NA NA PE1 5 +NX_A0A1B0GV03 Golgin subfamily A member 6-like protein 7 622 75583 5.31 0 NA NA NA NA Belongs to the GOLGA6 family. NA PE1 15 +NX_A0A1B0GV22 Protein FAM236B 79 8715 7.8 0 NA NA NA NA Belongs to the FAM236 family. NA PE2 X +NX_A0A1B0GV85 Reelin domain-containing protein 1 526 56837 6.53 1 Membrane NA NA NA NA NA PE2 4 +NX_A0A1B0GV90 Cortexin domain containing 2 55 5988 6 1 Membrane NA NA NA NA NA PE2 1 +NX_A0A1B0GVD1 Protein FAM237B 139 16331 8.63 0 NA NA NA NA NA NA PE2 7 +NX_A0A1B0GVG4 Coiled-coil domain-containing protein 194 234 24954 10.03 0 NA NA NA NA NA NA PE2 19 +NX_A0A1B0GVG6 Testis-expressed protein 54 124 14093 4.82 0 NA NA NA NA NA NA PE1 11 +NX_A0A1B0GVH4 Serine protease-like protein 51 220 25576 8.73 0 Secreted NA NA NA Belongs to the peptidase S1 family. NA PE2 8 +NX_A0A1B0GVH6 Uncharacterized protein C13orf42 325 37385 9.25 0 NA NA NA NA NA NA PE2 13 +NX_A0A1B0GVH7 IQ domain-containing protein M 501 59586 9.96 0 NA NA NA NA NA NA PE2 4 +NX_A0A1B0GVK7 Protein FAM240A 77 9685 9.92 0 NA NA NA NA Belongs to the FAM240 family. NA PE2 3 +NX_A0A1B0GVM5 Embryonic testis differentiation protein homolog C 59 6800 10.18 0 NA NA NA NA NA NA PE2 X +NX_A0A1B0GVM6 Uncharacterized protein C11orf97 126 13914 9.43 0 Cilium basal body NA NA NA NA NA PE2 11 +NX_A0A1B0GVN3 Uncharacterized protein C2orf92 265 30198 9.03 1 Membrane NA NA NA NA NA PE2 2 +NX_A0A1B0GVQ0 Small regulatory polypeptide of amino acid response 90 9632 8.51 1 Lysosome membrane;Late endosome membrane NA Negative regulator of amino acid sensing and mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels and amino acids (PubMed:28024296). Negatively regulates mTORC1 activation by inhibiting recruitment of mTORC1 to lysosomes upon stimulation with amino acids: acts by promoting the formation of a tightly bound supercomplex composed of the lysosomal V-ATPase, Ragulator and Rag GTPases, preventing recruitment of mTORC1 (PubMed:28024296). Acts as a regulator of muscle regeneration following injury by regulating mTORC1 activation (By similarity). NA NA NA PE1 9 +NX_A0A1B0GVQ3 Coiled-coil domain-containing protein 200 168 19413 9.33 0 NA NA NA NA NA NA PE1 17 +NX_A0A1B0GVR7 Protein FAM240C 95 10834 10.14 0 Nucleoplasm NA NA NA Belongs to the FAM240 family. NA PE2 2 +NX_A0A1B0GVS7 MyoD family inhibitor domain-containing protein 2 189 21509 4.64 0 NA NA NA NA Belongs to the MDFI family. NA PE2 3 +NX_A0A1B0GVT2 Small integral membrane protein 36 93 10135 5.51 1 Membrane NA NA NA NA NA PE1 17 +NX_A0A1B0GVV1 Small integral membrane protein 35 85 9379 5.56 1 Membrane NA NA NA NA NA PE2 11 +NX_A0A1B0GVX0 LITAF domain-containing protein 72 8245 8.49 0 Membrane NA NA NA Belongs to the CDIP1/LITAF family. NA PE5 16 +NX_A0A1B0GVY4 Small integral membrane protein 31 71 8394 5.19 1 Membrane NA NA NA NA NA PE2 4 +NX_A0A1B0GVZ2 Protein FAM240B 78 9744 8.52 0 NA NA NA NA Belongs to the FAM240 family. NA PE2 9 +NX_A0A1B0GVZ6 Methyl-CpG-binding domain protein 3-like 2B 204 22665 11.53 0 NA NA NA NA Belongs to the MBD3L family. NA PE2 19 +NX_A0A1B0GVZ9 Transmembrane protein 269 245 26874 6.68 5 Membrane NA NA NA NA NA PE2 1 +NX_A0A1B0GW35 Exocyst complex component 1-like 172 20250 6.31 0 NA NA NA NA NA NA PE2 4 +NX_A0A1B0GW54 Small integral membrane protein 39 56 5955 12.4 1 Membrane NA NA NA NA NA PE2 2 +NX_A0A1B0GW64 Small integral membrane protein 33 132 14123 5.14 1 Membrane NA NA NA NA NA PE2 5 +NX_A0A1B0GWB2 Proline rich transmembrane protein 1B 263 26769 4.77 2 Membrane NA NA NA Belongs to the CD225/Dispanin family. NA PE1 9 +NX_A0A1B0GWG4 Serine-rich and transmembrane domain-containing 2 90 10219 6.01 1 Membrane NA NA NA NA NA PE2 X +NX_A0A1B0GWH4 Heat shock transcription factor, X-linked member 3 333 37128 6.48 0 Nucleus NA NA NA Belongs to the HSF family. NA PE2 X +NX_A0A1B0GWK0 Parvalbumin-like EF-hand-containing protein 134 15275 5.66 0 NA NA NA NA Belongs to the parvalbumin family. NA PE2 17 +NX_A0A1B0GX31 T cell receptor beta variable 7-6 115 12827 7.72 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A1B0GX49 T cell receptor beta variable 6-4 114 12298 7.68 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 7 +NX_A0A1B0GX51 T cell receptor beta variable 7-8 115 12715 6.71 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A1B0GX56 T cell receptor delta variable 1 115 12955 9.2 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) delta chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:28920588, PubMed:23348415). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714). NA NA NA PE1 14 +NX_A0A1B0GX68 T cell receptor beta variable 2 115 13403 4.83 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A1B0GX78 T cell receptor beta variable 12-5 115 12997 6.07 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A1B0GX95 T cell receptor beta variable 7-4 115 12658 9.6 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A1B0GXF2 T cell receptor beta variable 7-2 115 12480 6.05 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 7 +NX_A0A1W2PP97 Thrombospondin type-1 domain-containing protein 8 115 13152 5.79 0 NA NA NA NA NA NA PE2 19 +NX_A0A1W2PPF3 Double homeobox protein B 345 40370 6.43 0 Nucleus NA NA NA NA NA PE2 16 +NX_A0A1W2PPG7 Putative guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-14 69 7528 5.14 0 Cell membrane NA Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. NA Belongs to the G protein gamma family. NA PE5 19 +NX_A0A1W2PPM1 Cytoplasmic polyadenylated homeobox-like 405 45714 6.55 0 Nucleus NA NA NA NA NA PE2 16 +NX_A0A1W2PQ73 ETS domain-containing transcription factor ERF-like 354 37790 6.24 0 Nucleus NA NA NA Belongs to the ETS family. NA PE2 19 +NX_A0A1W2PR19 Glutathione S-transferase theta-4 241 27942 6.51 0 Cytoplasm NA Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. NA Belongs to the GST superfamily. Theta family. NA PE2 22 +NX_A0A1W2PR48 Transducin-like enhancer protein 7 441 48656 5.58 0 NA NA NA NA Belongs to the WD repeat Groucho/TLE family. NA PE1 16 +NX_A0A1W2PR82 Protein PERCC1 267 29212 4.49 0 NA NA Plays a critical role in intestinal function (PubMed:31217582). Acts by promoting the development of enteroendocrine cells (EECs) of the gastrointestinal tract and pancreas (By similarity). It is thereby required for normal enteroendocrine peptide hormone secretion (By similarity). NA NA NA PE2 16 +NX_A0A1W2PS18 Transmembrane protein PMIS2 150 15819 4.16 2 Membrane NA May play a role in spermatozoa mobility. NA Belongs to the CD225/Dispanin family. NA PE2 19 +NX_A0A286YEV6 Small cysteine and glycine repeat-containing protein 4 105 9792 8.41 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 28 family. NA PE1 2 +NX_A0A286YEX9 Small cysteine and glycine repeat-containing protein 10 47 3825 7.96 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 28 family. NA PE1 2 +NX_A0A286YEY9 Small cysteine and glycine repeat-containing protein 1 88 8607 8.46 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 28 family. NA PE1 2 +NX_A0A286YF01 Small cysteine and glycine repeat-containing protein 7 96 8951 8.36 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 28 family. NA PE1 2 +NX_A0A286YF46 Small cysteine and glycine repeat-containing protein 5 85 8201 8.39 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 28 family. NA PE1 2 +NX_A0A286YF58 Transmembrane protein 271 385 39128 9.55 4 Membrane NA NA NA NA NA PE2 4 +NX_A0A286YF60 Small cysteine and glycine repeat-containing protein 3 100 9511 8.47 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 28 family. NA PE1 2 +NX_A0A286YF77 Small cysteine and glycine repeat-containing protein 6 105 9896 8.45 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 28 family. NA PE1 2 +NX_A0A286YFB4 Small cysteine and glycine repeat-containing protein 2 120 10822 8.34 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 28 family. NA PE1 2 +NX_A0A286YFG1 Small cysteine and glycine repeat-containing protein 8 108 10123 8.39 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 28 family. NA PE1 2 +NX_A0A286YFK9 Small integral membrane protein 38 51 5769 9.62 1 Membrane NA NA NA NA NA PE2 11 +NX_A0A2R8Y4Y8 Oocyte-secreted protein 4B 160 18448 9.41 0 Secreted NA NA NA Belongs to the PLAC1 family. NA PE3 11 +NX_A0A2R8YCJ5 Small integral membrane protein 41 93 9345 4.32 1 Membrane NA NA NA NA NA PE2 12 +NX_A0A2R8YFL7 Oocyte-secreted protein 4A 184 21040 8.19 0 Secreted NA NA NA Belongs to the PLAC1 family. NA PE2 11 +NX_A0A2R8YFM6 Oocyte-secreted protein 3 193 21194 5.48 0 Secreted NA NA NA Belongs to the PLAC1 family. NA PE2 11 +NX_A0A2Z4LIS9 Forkhead box protein O3B 290 29900 4.82 0 Cytosol NA NA NA NA NA PE1 17 +NX_A0A539 T cell receptor beta variable 4-2 114 12890 8.19 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A576 T cell receptor beta variable 3-1 114 12928 8.21 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A577 T cell receptor beta variable 4-1 114 12859 8.48 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A578 T cell receptor beta variable 5-1 114 12600 9.55 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 7 +NX_A0A584 T cell receptor beta variable 11-2 115 12743 8.39 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A589 T cell receptor beta variable 4-3 114 12856 7.63 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A597 T cell receptor beta variable 5-5 114 12550 8.42 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A599 T cell receptor beta variable 5-6 114 12565 5.81 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A5A2 T cell receptor beta variable 5-8 114 12721 6.06 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A5A6 T cell receptor beta variable 11-3 115 12990 4.93 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A5B0 T cell receptor beta variable 14 115 12880 7.75 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A5B6 T cell receptor beta variable 28 114 13166 8.35 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 7 +NX_A0A5B7 T cell receptor beta variable 29-1 111 12190 4.88 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 7 +NX_A0A5B9 T cell receptor beta constant 2 178 19968 6.48 1 Cell membrane NA Constant region of T cell receptor (TR) beta chain (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn, ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 7 +NX_A0AUZ9 KAT8 regulatory NSL complex subunit 1-like protein 987 112253 8.69 0 Cytosol NA NA Acetylated on lysine residues by KAT8 upon ionizing radiation-induced DNA damage; deacetylated by HDAC3. NA NA PE1 2 +NX_A0AV02 Solute carrier family 12 member 8 714 78239 5.51 13 Membrane;Nucleoplasm NA Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation. NA Belongs to the SLC12A transporter family. NA PE1 3 +NX_A0AV96 RNA-binding protein 47 593 64099 7.56 0 Nucleoplasm;Cytosol;Nucleus NA NA NA Belongs to the RRM RBM47 family. NA PE1 4 +NX_A0AVF1 Intraflagellar transport protein 56 554 64178 6.5 0 Cytoplasm;Nucleus speckle;Cilium;Cytosol;Nucleus;Cytoskeleton NA Component of the intraflagellar transport (IFT) complex B required for transport of proteins in the motile cilium. Required for transport of specific ciliary cargo proteins related to motility, while it is neither required for IFT complex B assembly or motion nor for cilium assembly. Required for efficient coupling between the accumulation of GLI2 and GLI3 at the ciliary tips and their dissociation from the negative regulator SUFU. Plays a key role in maintaining the integrity of the IFT complex B and the proper ciliary localization of the IFT complex B components. Not required for IFT complex A ciliary localization or function. Essential for maintaining proper microtubule organization within the ciliary axoneme. NA Belongs to the IFT56 family. Intraflagellar transport PE1 7 +NX_A0AVI2 Fer-1-like protein 5 2057 237935 8.3 1 Membrane;Cell membrane NA Plays a role in myoblast fusion; probable mediator of endocytic recycling for membrane trafficking events during myotube formation. NA Belongs to the ferlin family. NA PE2 2 +NX_A0AVI4 E3 ubiquitin-protein ligase TM129 362 40464 7.84 3 Endoplasmic reticulum membrane NA E3 ubiquitin-protein ligase involved in ER-associated protein degradation, preferentially associates with the E2 enzyme UBE2J2. Exploited by viral US11 proteins to mediate HLA class I proteins degradation. NA Belongs to the TMEM129 family. Protein modification; protein ubiquitination.;E3 ubiquitin ligases ubiquitinate target proteins PE1 4 +NX_A0AVK6 Transcription factor E2F8 867 94166 9.11 0 Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Atypical E2F transcription factor that participates in various processes such as angiogenesis and polyploidization of specialized cells. Mainly acts as a transcription repressor that binds DNA independently of DP proteins and specifically recognizes the E2 recognition site 5'-TTTC[CG]CGC-3'. Directly represses transcription of classical E2F transcription factors such as E2F1: component of a feedback loop in S phase by repressing the expression of E2F1, thereby preventing p53/TP53-dependent apoptosis. Plays a key role in polyploidization of cells in placenta and liver by regulating the endocycle, probably by repressing genes promoting cytokinesis and antagonizing action of classical E2F proteins (E2F1, E2F2 and/or E2F3). Required for placental development by promoting polyploidization of trophoblast giant cells. Acts as a promoter of sprouting angiogenesis, possibly by acting as a transcription activator: associates with HIF1A, recognizes and binds the VEGFA promoter, which is different from canonical E2 recognition site, and activates expression of the VEGFA gene. NA Belongs to the E2F/DP family. TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest PE1 11 +NX_A0AVT1 Ubiquitin-like modifier-activating enzyme 6 1052 117970 5.76 0 Nucleoplasm;Cytoplasm;Cytosol NA May play a key role in ubiquitin system and may influence spermatogenesis and male fertility.;Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Specific for ubiquitin, does not activate ubiquitin-like peptides. Differs from UBE1 in its specificity for substrate E2 charging. Does not charge cell cycle E2s, such as CDC34. Essential for embryonic development. Required for UBD/FAT10 conjugation. NA Belongs to the ubiquitin-activating E1 family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Synthesis of active ubiquitin: roles of E1 and E2 enzymes PE1 4 +NX_A0FGR8 Extended synaptotagmin-2 921 102357 9.33 2 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane. Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport. Plays a role in FGF signaling via its role in the rapid internalization of FGFR1 that has been activated by FGF1 binding; this occurs most likely via the AP-2 complex. NA Belongs to the extended synaptotagmin family. Glycosphingolipid metabolism PE1 7 +NX_A0FGR9 Extended synaptotagmin-3 886 100035 8.68 2 Endoplasmic reticulum membrane;Cell membrane NA Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane. NA Belongs to the extended synaptotagmin family. Glycosphingolipid metabolism PE1 3 +NX_A0JD32 T cell receptor alpha variable 38-2/delta variable 8 116 13278 4.99 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_A0JD36 T cell receptor delta variable 2 115 12944 6.06 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) delta chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:28920588, PubMed:23348415). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714). NA NA NA PE1 14 +NX_A0JD37 T cell receptor delta variable 3 113 12981 5.5 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) delta chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:28920588, PubMed:23348415). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714). NA NA NA PE1 14 +NX_A0JLT2 Mediator of RNA polymerase II transcription subunit 19 244 26273 9.83 0 Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 19 family. PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 11 +NX_A0JNW5 UHRF1-binding protein 1-like 1464 164199 5.89 0 Cytoplasmic vesicle;Nucleoplasm;Early endosome;Cytosol NA NA NA NA NA PE1 12 +NX_A0JP26 POTE ankyrin domain family member B3 581 65710 6.24 0 NA NA NA NA Belongs to the POTE family. NA PE2 15 +NX_A0M8Q6 Immunoglobulin lambda constant 7 106 11254 8.5 0 Secreted;Cell membrane NA Constant region of immunoglobulin light chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_A0MZ66 Shootin-1 631 71640 5.27 0 Cell membrane;Growth cone;Perikaryon;Nucleoplasm;Lamellipodium;Filopodium;Cytosol;Axon;Cytoskeleton NA Involved in the generation of internal asymmetric signals required for neuronal polarization and neurite outgrowth. Mediates netrin-1-induced F-actin-substrate coupling or 'clutch engagement' within the axon growth cone through activation of CDC42, RAC1 and PAK1-dependent signaling pathway, thereby converting the F-actin retrograde flow into traction forces, concomitantly with filopodium extension and axon outgrowth. Plays a role in cytoskeletal organization by regulating the subcellular localization of phosphoinositide 3-kinase (PI3K) activity at the axonal growth cone. Plays also a role in regenerative neurite outgrowth. In the developing cortex, cooperates with KIF20B to promote both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex. Involved in the accumulation of phosphatidylinositol 3,4,5-trisphosphate (PIP3) in the growth cone of primary hippocampal neurons. Phosphorylated on Ser-101 and Ser-249 by PAK1 through a CDC42- and RAC1-dependent signaling pathway, which enhances its association with F-actin retrograde flow in filopodia and lamellipodia of axonal growth cones. Phosphorylation on Ser-101 and Ser-249 is increased by netrin-1. Belongs to the shootin family. Recycling pathway of L1 PE1 10 +NX_A0PG75 Phospholipid scramblase family member 5 271 30027 5.12 0 NA NA NA NA Belongs to the phospholipid scramblase family. NA PE2 3 +NX_A0PJE2 Dehydrogenase/reductase SDR family member 12 317 35146 6.84 0 Golgi apparatus;Cytoplasmic vesicle;Nucleoplasm NA Putative oxidoreductase. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. NA PE2 13 +NX_A0PJK1 Sodium/glucose cotransporter 5 596 64342 7.55 14 Endoplasmic reticulum;Cell membrane NA High capacity transporter for mannose and fructose and, to a lesser extent, glucose, AMG, and galactose. NA Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. Cellular hexose transport PE1 17 +NX_A0PJW6 Transmembrane protein 223 202 22049 11.03 2 Membrane;Nucleoplasm;Mitochondrion;Nucleus membrane NA NA NA Belongs to the TMEM223 family. NA PE1 11 +NX_A0PJW8 Death-associated protein-like 1 107 11880 10 0 Nucleoplasm;Nucleus;Cytoskeleton NA May play a role in the early stages of epithelial differentiation or in apoptosis. NA NA NA PE1 2 +NX_A0PJX0 Calcium and integrin-binding family member 4 185 21745 4.64 0 NA NA NA NA NA NA PE1 2 +NX_A0PJX2 TLD domain-containing protein 2 215 23912 4.67 0 NA NA NA NA Belongs to the OXR1 family. NA PE1 20 +NX_A0PJX4 Protein shisa-3 homolog 238 25832 6.5 1 Cytosol;Endoplasmic reticulum membrane;Lipid droplet NA Plays an essential role in the maturation of presomitic mesoderm cells by individual attenuation of both FGF and WNT signaling. NA Belongs to the shisa family. NA PE1 4 +NX_A0PJX8 Transmembrane protein 82 343 37222 8.57 8 Membrane;Nucleoplasm;Cytosol NA NA NA Belongs to the TMEM82 family. NA PE1 1 +NX_A0PJY2 Fez family zinc finger protein 1 475 52038 9.62 0 Nucleoplasm;Cytosol;Nucleus Hypogonadotropic hypogonadism 22 with or without anosmia Transcription repressor. Involved in the axonal projection and proper termination of olfactory sensory neurons (OSN). Plays a role in rostro-caudal patterning of the diencephalon and in prethalamic formation. Expression is required in OSN to cell-autonomously regulate OSN axon projections. Regulates non-cell-autonomously the layer formation of the olfactory bulb development and the interneurons. May be required for correct rostral migration of the interneuron progenitors (By similarity). NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 7 +NX_A0PJZ0 Putative ankyrin repeat domain-containing protein 20A5 165 18446 8.26 0 NA NA NA NA NA NA PE5 18 +NX_A0PJZ3 Glucoside xylosyltransferase 2 443 51056 9.79 1 Membrane;Nucleoplasm;Cytoskeleton;Midbody ring NA Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose. NA Belongs to the glycosyltransferase 8 family. Other types of O-glycan biosynthesis PE1 3 +NX_A0PK00 Transmembrane protein 120B 339 40246 9.08 6 Nucleus inner membrane;Cytosol;Nucleolus NA Necessary for efficient adipogenesis. NA Belongs to the TMEM120 family. NA PE1 12 +NX_A0PK05 Transmembrane protein 72 275 29891 6.07 4 Membrane NA NA NA NA NA PE1 10 +NX_A0PK11 Clarin-2 232 25446 6.51 4 Membrane NA NA NA Belongs to the clarin family. NA PE2 4 +NX_A0ZSE6 Cell cycle control protein 50C 113 13039 8.2 1 Membrane NA NA NA Belongs to the CDC50/LEM3 family. NA PE2 3 +NX_A1A4F0 Putative uncharacterized protein SLC66A1L 135 15626 9.28 0 Nucleoplasm;Nucleus NA NA NA NA NA PE2 3 +NX_A1A4G5 Leukemia NUP98 fusion partner 1 178 21321 8.59 0 Cytoplasmic vesicle;Cytosol;Nucleus speckle NA NA NA NA NA PE1 3 +NX_A1A4S6 Rho GTPase-activating protein 10 786 89375 6.75 0 Cytoplasm;Cell membrane;Nucleus membrane;Nucleoplasm;Cytosol;Perinuclear region NA GTPase activator for the small GTPases RhoA and Cdc42 by converting them to an inactive GDP-bound state. Essential for PTKB2 regulation of cytoskeletal organization via Rho family GTPases. Inhibits PAK2 proteolytic fragment PAK-2p34 kinase activity and changes its localization from the nucleus to the perinuclear region. Stabilizes PAK-2p34 thereby increasing stimulation of cell death (By similarity). Phosphorylated. Phosphorylated in vitro by constitutive active PKN3.;ARHGAP10 is phosphorylated by PKN3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);ARHGAP10 is phosphorylated by PTK2B (Phosphotyrosine:PTM-0255) NA Bacterial invasion of epithelial cells;Rho GTPase cycle;Regulation of PAK-2p34 activity by PS-GAP/RHG10 PE1 4 +NX_A1A4V9 Coiled-coil domain-containing protein 189 331 37921 6.29 0 Cytosol NA NA NA NA NA PE1 16 +NX_A1A4Y4 Immunity-related GTPase family M protein 181 20142 5.23 0 Autophagosome membrane;Cell membrane;Phagosome membrane;Phagocytic cup;Golgi apparatus membrane Inflammatory bowel disease 19 Putative GTPase which is required for clearance of acute protozoan and bacterial infections. Functions in innate immune response probably through regulation of autophagy. May regulate proinflammatory cytokine production and prevent endotoxemia upon infection. May also play a role in macrophages adhesion and motility (By similarity). NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. IRG family. Toxoplasmosis PE1 5 +NX_A1A519 Protein FAM170A 330 37158 5 0 Nucleus NA Acts as a nuclear transcription factor that positively regulates the expression of heat shock genes. Binds to heat shock promoter elements (HSE). NA Belongs to the FAM170 family. NA PE1 5 +NX_A1A580 Keratin-associated protein 23-1 65 6892 5.26 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA NA Keratinization PE1 21 +NX_A1A5B4 Anoctamin-9 782 90333 8.45 8 Golgi apparatus;Cell membrane NA Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (PubMed:22178883). Can inhibit the activity of ANO1 (PubMed:20056604, PubMed:22946059). NA Belongs to the anoctamin family. Stimuli-sensing channels PE1 11 +NX_A1A5C7 Solute carrier family 22 member 23 686 73748 7.98 10 Membrane;Cytoplasmic vesicle;Nucleoplasm;Cytosol NA NA NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. NA PE1 6 +NX_A1A5D9 BICD family-like cargo adapter 2 508 56834 4.99 0 Cytosol;Cytoskeleton NA NA NA Belongs to the BICDR family. NA PE1 16 +NX_A1E959 Odontogenic ameloblast-associated protein 279 30777 4.49 0 Cytoplasm;Secreted;Nucleoplasm;Cytosol;Nucleus NA Tooth-associated epithelia protein that probably plays a role in odontogenesis, the complex process that results in the initiation and generation of the tooth. May be incorporated in the enamel matrix at the end of mineralization process. Involved in the induction of RHOA activity via interaction with ARHGEF and expression of downstream factors such as ROCK. Plays a role in attachment of the junctional epithelium to the tooth surface. O-glycosylated. Belongs to the ODAM family. Amyloid fiber formation PE1 4 +NX_A1IGU5 Rho guanine nucleotide exchange factor 37 675 76278 6.47 0 Cytosol NA May act as a guanine nucleotide exchange factor (GEF). NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 5 +NX_A1KXE4 Myelin-associated neurite-outgrowth inhibitor 195 20324 9.26 2 Cytoplasm;Cell membrane;Axon;Perinuclear region;Nucleus NA Inhibitor of neuronal axonal outgrowth. Acts as a negative regulator of CDC42 and STAT3 and a positive regulator of STMN2. Positive regulator of CDC27. N-glycosylated. Belongs to the FAM168 family. NA PE1 2 +NX_A1KZ92 Peroxidasin-like protein 1463 163686 7.25 0 Nucleoplasm;Cytoplasm;Cytosol;Secreted NA Endonuclease selectively degrading some target mRNAs while they are engaged by translating ribosomes, among which albumin and beta-globin mRNAs. Phosphorylation by SRC on tyrosine residues is required for targeting to polysomes. Belongs to the peroxidase family. XPO subfamily. NA PE1 8 +NX_A1L020 RNA-binding protein MEX3A 520 54173 7.02 0 Cytoplasm;Cytosol;P-body;Nucleus NA RNA binding protein, may be involved in post-transcriptional regulatory mechanisms. Phosphorylated. NA NA PE1 1 +NX_A1L0T0 Acetolactate synthase-like protein 632 67868 8.42 1 Membrane;Cytoplasmic vesicle;Golgi apparatus NA NA NA Belongs to the TPP enzyme family. NA PE1 19 +NX_A1L157 Tetraspanin-11 253 28245 7.53 4 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the tetraspanin (TM4SF) family. NA PE2 12 +NX_A1L162 Glutamate-rich protein 2 156 17672 3.86 0 Cytoplasmic vesicle;Nucleolus NA NA NA NA NA PE1 2 +NX_A1L167 Ubiquitin-conjugating enzyme E2Q-like protein 1 161 18338 7.74 0 Nucleoplasm;Nucleus;Cell membrane NA Probable E2 ubiquitin-protein ligase that catalyzes the covalent attachment of ubiquitin to target proteins. May facilitate the monoubiquitination and degradation of MTOR and CCNE1 through interaction with FBXW7. NA Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis PE1 5 +NX_A1L168 Uncharacterized protein C20orf202 122 13591 9.13 0 NA NA NA NA NA NA PE2 20 +NX_A1L170 Uncharacterized protein C1orf226 272 29057 5.19 0 Nucleoplasm NA NA NA NA NA PE1 1 +NX_A1L188 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 74 7756 9.56 0 Mitochondrion NA Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) (PubMed:27499296). Required to stabilize NDUFAF5 (PubMed:27499296). NA NA NA PE1 17 +NX_A1L190 Synaptonemal complex central element protein 3 88 10601 4.53 0 Golgi apparatus;Nucleolus;Chromosome;Nucleoplasm;Nucleus NA Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for chromosome loading of the central element-specific SCS proteins, and for initiating synapsis between homologous chromosomes. Chromosome loading appears to require SYCP1. Required for fertility. NA NA Meiotic synapsis PE1 22 +NX_A1L1A6 Immunoglobulin superfamily member 23 192 20591 6.28 1 Membrane;Nucleoplasm;Cell junction NA NA NA NA NA PE2 19 +NX_A1L390 Pleckstrin homology domain-containing family G member 3 1219 134412 6.13 0 Cell membrane;Nucleoplasm;Centrosome;Cytosol;Cytoskeleton NA NA NA NA NA PE1 14 +NX_A1L3X0 Elongation of very long chain fatty acids protein 7 281 33356 9.34 7 Endoplasmic reticulum membrane NA Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme with higher activity toward C18 acyl-CoAs, especially C18:3(n-3) acyl-CoAs and C18:3(n-6)-CoAs. Also active toward C20:4-, C18:0-, C18:1-, C18:2- and C16:0-CoAs, and weakly toward C20:0-CoA. Little or no activity toward C22:0-, C24:0-, or C26:0-CoAs. May participate in the production of saturated and polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. NA Belongs to the ELO family. ELOVL7 subfamily. Lipid metabolism; fatty acid biosynthesis.;Fatty acid elongation;Synthesis of very long-chain fatty acyl-CoAs PE1 5 +NX_A1L3X4 Putative metallothionein MT1DP 49 4983 8.38 0 NA NA Metallothioneins have a high content of cysteine residues that bind various heavy metals. NA Belongs to the metallothionein superfamily. Type 1 family. NA PE5 16 +NX_A1L429 G antigen 12B/C/D/E 117 12925 4.23 0 NA NA NA NA Belongs to the GAGE family. NA PE1 X +NX_A1L443 NUT family member 2F 756 80770 8.51 0 NA NA NA NA Belongs to the NUT family. NA PE2 9 +NX_A1L453 Serine protease 38 326 35356 6.04 0 Secreted NA NA NA Belongs to the peptidase S1 family. NA PE1 1 +NX_A1L4H1 Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D 1573 165743 5.71 0 Nucleoplasm;Cytoplasm;Cytosol;Secreted NA Binds to extracellular matrix proteins. Binds to pathogen-associated molecular patterns (PAMPs) present on the cell walls of Gram-positive and Gram-negative bacteria and fungi, behaving as a pattern recognition receptor (PRR). Induces bacterial and fungal aggregation and subsequent inhibition of PAMP-induced cytokine release. Does not possess intrinsic bactericidal activity. May play a role in the innate defense and homeostasis of certain epithelial surfaces (By similarity). NA NA Scavenging by Class B Receptors PE1 19 +NX_A1L4K1 Fibronectin type III and SPRY domain-containing protein 2 749 85385 4.81 0 Sarcoplasmic reticulum;Cytosol;Perinuclear region;Nucleus NA NA NA NA NA PE1 15 +NX_A1L4L8 PLAC8-like protein 1 177 19885 7.94 0 Nucleoplasm NA NA NA Belongs to the cornifelin family. NA PE2 5 +NX_A1L4Q6 Putative uncharacterized protein FLJ41423 167 18020 6.08 0 NA NA NA NA NA NA PE5 11 +NX_A1X283 SH3 and PX domain-containing protein 2B 911 101579 8.82 0 Nucleoplasm;Cytoplasm;Podosome;Nucleolus Frank-Ter Haar syndrome Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. Plays a role in mitotic clonal expansion during the immediate early stage of adipocyte differentiation (By similarity). Phosphorylated in SRC-transformed cells. Belongs to the SH3PXD2 family. NA PE1 5 +NX_A1XBS5 Protein FAM92A 289 33431 5.89 0 Cytoplasm;Mitochondrion;Centriole;Cilium;Cilium basal body;Nucleus Polydactyly, postaxial, A9 Acts as a positive regulator of ciliary hedgehog signaling (By similarity). Probable regulator of ciliogenesis involved in limb morphogenesis. In cooperation with CBY1 it is involved in the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis. NA Belongs to the FAM92 family. NA PE1 8 +NX_A1YPR0 Zinc finger and BTB domain-containing protein 7C 619 69017 5.09 0 NA NA May be a tumor suppressor gene. NA NA NA PE1 18 +NX_A1Z1Q3 ADP-ribose glycohydrolase MACROD2 425 47421 4.59 0 Nucleoplasm;Nucleolus;Nucleus NA Removes ADP-ribose from asparatate and glutamate residues in proteins bearing a single ADP-ribose moiety (PubMed:23474714, PubMed:23474712). Inactive towards proteins bearing poly-ADP-ribose (PubMed:23474714, PubMed:23474712). Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins (PubMed:21257746). NA NA NA PE1 20 +NX_A2A288 Probable ribonuclease ZC3H12D 527 58078 8.92 0 Cytoplasm;Nucleoplasm;P-body;Cytosol;Nucleus NA May regulate cell growth likely by suppressing RB1 phosphorylation (PubMed:19531561). May function as RNase and regulate the levels of target RNA species (Potential). In association with ZC3H12A enhances the degradation of interleukin IL-6 mRNA level in activated macrophages (PubMed:26134560). Serve as a tumor suppressor in certain leukemia cells (PubMed:17210687). Overexpression inhibits the G1 to S phase progression through suppression of RB1 phosphorylation (PubMed:19531561). NA Belongs to the ZC3H12 family. NA PE1 6 +NX_A2A2V5 Serine-rich and transmembrane domain-containing protein 1 107 11458 4.33 1 Membrane;Cytoplasmic vesicle NA NA NA NA NA PE2 13 +NX_A2A2Y4 FERM domain-containing protein 3 597 68772 5.97 1 Membrane;Golgi apparatus;Nucleoplasm;Cell membrane NA Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer. NA NA NA PE1 9 +NX_A2A2Z9 Ankyrin repeat domain-containing protein 18B 1011 118231 8.35 0 NA NA NA NA NA NA PE1 9 +NX_A2A368 Melanoma-associated antigen B16 324 36178 5.25 0 NA NA NA NA NA NA PE2 X +NX_A2A3K4 Protein tyrosine phosphatase domain-containing protein 1 754 84457 7.35 0 Nucleoplasm NA May play roles in cilia formation and/or maintenance. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class PTPDC1 subfamily. NA PE1 9 +NX_A2A3L6 Tetratricopeptide repeat protein 24 582 63396 9.37 0 Nucleoplasm NA NA NA NA NA PE1 1 +NX_A2A3N6 Putative PIP5K1A and PSMD4-like protein 862 95048 5.46 0 Cytoplasm NA Has negligible PIP5 kinase activity. Binds to ubiquitinated proteins. NA NA NA PE5 10 +NX_A2AJT9 BCLAF1 and THRAP3 family member 3 711 83871 9.71 0 Nucleoplasm;Mitochondrion NA NA NA Belongs to the BCLAF1/THRAP3 family. NA PE1 X +NX_A2CJ06 Dystrotelin 578 65320 9.18 0 Cell membrane NA NA NA NA NA PE2 2 +NX_A2IDD5 Coiled-coil domain-containing protein 78 438 48521 8.27 0 Sarcoplasmic reticulum;Sarcolemma;Centriole;Perinuclear region Myopathy, centronuclear, 4 Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells (G1/0) and not in S phase. Essential for centriole amplification and is required for CEP152 localization to the deuterosome. NA Belongs to the CCDC78 family. NA PE1 16 +NX_A2NJV5 Immunoglobulin kappa variable 2-29 120 13085 6.7 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_A2PYH4 Probable ATP-dependent DNA helicase HFM1 1435 162610 6.66 0 Golgi apparatus;Cytoplasmic vesicle Premature ovarian failure 9 Required for crossover formation and complete synapsis of homologous chromosomes during meiosis. NA Belongs to the helicase family. SKI2 subfamily. NA PE1 1 +NX_A2RRD8 Zinc finger protein 320 509 59326 9.16 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_A2RRH5 WD repeat-containing protein 27 827 90038 8.25 0 Nucleoplasm NA NA NA NA NA PE1 6 +NX_A2RRL7 Transmembrane protein 213 107 11520 5.41 1 Membrane NA NA NA NA NA PE2 7 +NX_A2RRP1 Neuroblastoma-amplified sequence 2371 268571 5.65 0 Cytoplasm;Golgi apparatus;Endoplasmic reticulum membrane;Nucleus membrane;Nucleolus;Endoplasmic reticulum Short stature, optic nerve atrophy, and Pelger-Huet anomaly;Infantile liver failure syndrome 2 Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418). NA NA COPI-dependent Golgi-to-ER retrograde traffic PE1 2 +NX_A2RTX5 Threonine--tRNA ligase 2, cytoplasmic 802 92646 5.74 0 Cytoplasm;Cytosol;Nucleus NA Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain, at the post-transfer stage. NA Belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis PE1 15 +NX_A2RTY3 Protein HEATR9 570 65681 9.32 0 NA NA NA NA NA NA PE1 17 +NX_A2RU14 Transmembrane protein 218 115 12459 6.7 3 Membrane;Cytosol;Cilium;Cell membrane NA May be involved in ciliary biogenesis or function. NA Belongs to the TMEM218 family. NA PE1 11 +NX_A2RU30 Protein TESPA1 521 59213 5.48 0 Cytoplasm;Endoplasmic reticulum membrane NA Required for the development and maturation of T-cells, its function being essential for the late stages of thymocyte development (By similarity). Plays a role in T-cell antigen receptor (TCR)-mediated activation of the ERK and NFAT signaling pathways, possibly by serving as a scaffolding protein that promotes the assembly of the LAT signalosome in thymocytes. May play a role in the regulation of inositol 1,4,5-trisphosphate receptor-mediated Ca(2+) release and mitochondrial Ca(2+) uptake via the mitochondria-associated endoplasmic reticulum membrane (MAM) compartment. May be phosphorylated in response to store-operated Ca(+2) entry. NA NA PE1 12 +NX_A2RU37 Uncharacterized protein C9orf170 121 13369 10.58 0 NA NA NA NA NA NA PE2 9 +NX_A2RU48 Single-pass membrane and coiled-coil domain-containing protein 3 225 24877 8.32 1 Membrane NA NA NA NA NA PE1 12 +NX_A2RU49 Hydroxylysine kinase 373 41933 6.36 0 Cytoplasm;Cytosol;Cytoplasmic vesicle NA Catalyzes the GTP-dependent phosphorylation of 5-hydroxy-L-lysine. NA Belongs to the aminoglycoside phosphotransferase family. Lysine catabolism PE1 15 +NX_A2RU54 Homeobox protein HMX2 273 29598 9.16 0 Nucleus NA Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development. NA Belongs to the HMX homeobox family. NA PE1 10 +NX_A2RU67 Protein FAM234B 622 67039 4.88 1 Membrane;Endoplasmic reticulum NA NA NA Belongs to the FAM234 family. NA PE1 12 +NX_A2RUB1 Meiosis-specific coiled-coil domain-containing protein MEIOC 952 107559 6.68 0 Cytoplasm;Cell junction;Nucleus NA Is required for meiosis completion in both male and female germ cells. Confers stability to numerous meiotic mRNAs in gonads allowing proper initiation and progression into meiosis prophase I. The function may involve YTHDC2 and is independent of induction by retinoic acid (RA). Maintains an extended meiotic prophase I by properly promoting the transition from a mitotic to a meiotic cell cycle program by binding transcripts through its interaction with YTHDC2 that regulate the mitotic cell cycle. NA NA NA PE1 17 +NX_A2RUB6 Coiled-coil domain-containing protein 66 948 109411 8.47 0 Photoreceptor inner segment;Photoreceptor outer segment;Cell junction;Centriolar satellite;Cilium;Cilium basal body;Centrosome;Cytosol;Midbody ring NA Microtubule-binding protein required for ciliogenesis (PubMed:28235840). May function in ciliogenesis by mediating the transport of proteins like BBS4 to the cilium, but also through the organization of the centriolar satellites (PubMed:28235840). Plays a role in retina morphogenesis and/or homeostasis (By similarity). NA NA NA PE1 3 +NX_A2RUC4 tRNA wybutosine-synthesizing protein 5 315 36548 7.1 0 Nucleus NA TRNA hydroxylase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the hydroxylation of 7-(a-amino-a-carboxypropyl)wyosine (yW-72) into undermodified hydroxywybutosine (OHyW*). OHyW* being further transformed into hydroxywybutosine (OHyW) by LCMT2/TYW4. OHyW is a derivative of wybutosine found in higher eukaryotes. NA Belongs to the TYW5 family. tRNA modification; wybutosine-tRNA(Phe) biosynthesis.;Synthesis of wybutosine at G37 of tRNA(Phe) PE1 2 +NX_A2RUG3 Testis-specific XK-related protein, Y-linked 2 117 12988 8.91 3 Membrane NA NA NA Belongs to the XK family. NA PE2 Y +NX_A2RUH7 Myosin-binding protein H-like 354 38733 8.65 0 NA NA NA NA Belongs to the immunoglobulin superfamily. MyBP family. NA PE1 1 +NX_A2RUQ5 Uncharacterized protein C17orf102 167 17761 10.63 0 NA NA NA NA NA NA PE2 17 +NX_A2RUR9 Coiled-coil domain-containing protein 144A 1427 165125 5.26 0 NA NA NA NA Belongs to the CCDC144 family. NA PE2 17 +NX_A2RUS2 DENN domain-containing protein 3 1198 135890 6.63 0 Cytoplasm;Cytosol;Cytoplasmic vesicle NA Guanine nucleotide exchange factor (GEF) activating RAB12. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB12 into its active GTP-bound form (PubMed:20937701). Regulates autophagy in response to starvation through RAB12 activation. Starvation leads to ULK1/2-dependent phosphorylation of Ser-472 and Ser-490, which in turn allows recruitment of 14-3-3 adapter proteins and leads to up-regulation of GEF activity towards RAB12 (By similarity). Also plays a role in protein transport from recycling endosomes to lysosomes, regulating, for instance, the degradation of the transferrin receptor and of the amino acid transporter PAT4 (PubMed:20937701). Starvation also induces phosphorylation at Tyr-858, which leads to up-regulated GEF activity and initiates autophagy (By similarity). NA NA RAB GEFs exchange GTP for GDP on RABs PE1 8 +NX_A2RUT3 Transmembrane protein 89 159 17572 10.06 1 Membrane NA NA NA NA NA PE1 3 +NX_A2RUU4 Colipase-like protein 1 121 14057 8.92 0 Secreted NA NA NA Belongs to the colipase family. NA PE2 6 +NX_A2VCK2 Doublecortin domain-containing protein 2B 349 37665 9 0 NA NA NA NA NA NA PE1 1 +NX_A2VDF0 Fucose mutarotase 154 16765 5.49 0 NA NA Involved in the interconversion between alpha- and beta-L-fucoses. L-Fucose (6-deoxy-L-galactose) exists as alpha-L-fucose (29.5%) and beta-L-fucose (70.5%), the beta-form is metabolized through the salvage pathway. GDP-L-fucose formed either by the de novo or salvage pathways is transported into the endoplasmic reticulum, where it serves as a substrate for N- and O-glycosylations by fucosyltransferases. Fucosylated structures expressed on cell surfaces or secreted in biological fluids are believed to play a critical role in cell-cell adhesion and recognition processes. NA Belongs to the RbsD / FucU family. GDP-fucose biosynthesis PE1 10 +NX_A2VDJ0 Transmembrane protein 131-like 1609 179339 6.43 1 Cytoplasm;Cell membrane;Nucleolus;Endoplasmic reticulum;Cytoplasmic vesicle NA Membrane-associated form that antagonizes canonical Wnt signaling by triggering lysosome-dependent degradation of Wnt-activated LRP6. Regulates thymocyte proliferation. NA Belongs to the TMEM131 family. NA PE1 4 +NX_A2VEC9 SCO-spondin 5150 547841 5.66 0 Extracellular space NA Involved in the modulation of neuronal aggregation. May be involved in developmental events during the formation of the central nervous system (By similarity). NA Belongs to the thrombospondin family. O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 7 +NX_A3KFT3 Olfactory receptor 2M5 312 35112 8.56 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 1 +NX_A3KMH1 von Willebrand factor A domain-containing protein 8 1905 214824 7.01 0 Cytoplasmic vesicle;Peroxisome;Mitochondrion;Lipid droplet NA Exhibits ATPase activity in vitro. NA NA NA PE1 13 +NX_A3KN83 Protein strawberry notch homolog 1 1393 154312 7.96 0 Nucleoplasm NA NA NA Belongs to the SBNO family. NA PE1 12 +NX_A3QJZ6 PRAME family member 22 481 55489 8.4 0 NA NA NA NA Belongs to the PRAME family. NA PE3 1 +NX_A3QJZ7 PRAME family member 27 478 55206 8.58 0 NA NA NA NA Belongs to the PRAME family. NA PE3 1 +NX_A4D0S4 Laminin subunit beta-4 1761 193540 5.93 0 Basement membrane NA Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. NA NA Focal adhesion;ECM-receptor interaction;Toxoplasmosis;Amoebiasis;Pathways in cancer;Small cell lung cancer PE1 7 +NX_A4D0T2 Uncharacterized protein C7orf66 115 13234 9.3 1 Membrane NA NA NA NA NA PE4 7 +NX_A4D0T7 Small integral membrane protein 30 59 6102 5.93 1 Membrane NA NA NA NA NA PE2 7 +NX_A4D0V7 Cadherin-like and PC-esterase domain-containing protein 1 1026 117491 8.41 0 Endoplasmic reticulum;Nucleoplasm NA NA NA Belongs to the PC-esterase family. NA PE1 7 +NX_A4D0Y5 Uncharacterized protein C7orf77 90 10046 6.55 0 NA NA NA NA NA NA PE2 7 +NX_A4D126 D-ribitol-5-phosphate cytidylyltransferase 451 49873 5.86 0 Nucleoplasm;Cytosol;Nucleolus Muscular dystrophy-dystroglycanopathy limb-girdle C7;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 Cytidylyltransferase required for protein O-linked mannosylation (PubMed:22522420, PubMed:27130732, PubMed:27601598, PubMed:26687144, PubMed:22522421, PubMed:26923585). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate (PubMed:27130732, PubMed:26687144, PubMed:26923585). CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:27130732, PubMed:26687144, PubMed:26923585). Shows activity toward other pentose phosphate sugars and mediates formation of CDP-ribulose or CDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively (PubMed:26687144). Not Involved in dolichol production (PubMed:26687144). NA Belongs to the IspD/TarI cytidylyltransferase family. IspD subfamily. Protein modification; protein glycosylation. PE1 7 +NX_A4D161 Protein FAM221A 298 33083 6.33 0 Cytosol NA NA NA Belongs to the FAM221 family. NA PE1 7 +NX_A4D1B5 Gamma-secretase-activating protein 854 97802 6.38 0 trans-Golgi network;Cytoplasmic vesicle NA Regulator of gamma-secretase activity, which specifically activates the production of amyloid-beta protein (amyloid-beta protein 40 and amyloid-beta protein 42), without affecting the cleavage of other gamma-secretase targets such has Notch. The gamma-secretase complex is an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Specifically promotes the gamma-cleavage of APP CTF-alpha (also named APP-CTF) by the gamma-secretase complex to generate amyloid-beta, while it reduces the epsilon-cleavage of APP CTF-alpha, leading to a low production of AICD. The protein is first synthesized as a holoprotein form of 98 kDa and rapidly processed into the gamma-secretase-activating protein 16 kDa C-terminal form, which constitutes the predominant form. Belongs to the GSAP family. NA PE1 7 +NX_A4D1E1 Zinc finger protein 804B 1349 152573 8.84 0 NA NA NA NA NA Generic Transcription Pathway PE2 7 +NX_A4D1E9 GTP-binding protein 10 387 42933 9.12 0 Nucleolus;Chromosome NA May be involved in the ribosome maturation process. Complements an ObgE(CgtA) function in E.coli ribosome maturation. Plays a role of GTPase in vitro. When missing, disorganization of the nucleolar architecture is observed. NA Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family. NA PE1 7 +NX_A4D1F6 Leucine-rich repeat and death domain-containing protein 1 860 98035 7.24 0 NA NA NA NA NA NA PE1 7 +NX_A4D1N5 Putative uncharacterized protein FLJ40288 150 16741 7.87 0 NA NA NA NA NA NA PE2 7 +NX_A4D1P6 WD repeat-containing protein 91 747 83344 6.15 0 Early endosome membrane;Late endosome membrane NA Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport (PubMed:26783301). It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome (PubMed:27126989). May play a role in meiosis (By similarity). NA Belongs to the WD repeat WDR91 family. NA PE1 7 +NX_A4D1S0 Killer cell lectin-like receptor subfamily G member 2 409 42851 5.63 1 Membrane;Nucleoplasm NA NA NA NA NA PE1 7 +NX_A4D1S5 Ras-related protein Rab-19 217 24400 6.06 0 Cell membrane NA NA NA Belongs to the small GTPase superfamily. Rab family. RAB geranylgeranylation PE1 7 +NX_A4D1T9 Probable inactive serine protease 37 235 26445 9.05 0 Secreted;Acrosome NA Plays a role in male fertility (By similarity). May have a role in sperm migration or binding to zona-intact eggs (By similarity). Involved in the activation of the proacrosin/acrosin system (PubMed:27649891). NA Belongs to the peptidase S1 family. NA PE1 7 +NX_A4D1U4 DENN domain-containing protein 11 455 51446 5.18 0 Golgi apparatus NA Probable guanine nucleotide exchange factor (GEF). May promote the exchange of GDP to GTP, converting inactive GDP-bound small GTPases into their active GTP-bound form (Probable). May play a role in neuritogenesis, as well as in neuronal recovery and/or restructuring in the hippocampus following transient cerebral ischemia (By similarity). NA Belongs to the DENND11 family. NA PE1 7 +NX_A4D1Z8 Grifin 144 15999 6.28 0 NA NA NA NA NA NA PE2 7 +NX_A4D250 B-cell acute lymphoblastic leukemia-expressed protein 179 19503 4.86 0 NA NA NA NA NA NA PE2 7 +NX_A4D256 Dual specificity protein phosphatase CDC14C 447 51614 8.33 1 Endoplasmic reticulum membrane NA Dual-specificity phosphatase. Preferentially dephosphorylates proteins modified by proline-directed kinases (By similarity). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class CDC14 subfamily. NA PE1 7 +NX_A4D263 Spermatogenesis-associated protein 48 438 49672 8.67 0 NA NA NA NA NA NA PE1 7 +NX_A4D2B0 Metallo-beta-lactamase domain-containing protein 1 266 27202 4.73 0 NA NA NA NA Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family. NA PE1 7 +NX_A4D2B8 Putative postmeiotic segregation increased 2-like protein 1 440 47508 8.75 0 NA NA NA NA Belongs to the DNA mismatch repair MutL/HexB family. NA PE5 7 +NX_A4D2G3 Olfactory receptor 2A25 310 34606 8.65 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 7 +NX_A4D2H0 cTAGE family member 15 777 87868 5.15 1 Membrane NA NA NA Belongs to the cTAGE family. NA PE2 7 +NX_A4D2P6 Delphilin 1211 132276 7.11 0 Postsynaptic cell membrane;Cell membrane NA Postsynaptic scaffolding protein at the parallel fiber-Purkinje cell synapse, where it may serve to link GRID2 with actin cytoskeleton and various signaling molecules. NA NA NA PE1 7 +NX_A4FU01 Myotubularin-related protein 11 709 79545 6.59 0 Centrosome NA NA NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. NA PE1 1 +NX_A4FU28 cTAGE family member 9 777 87953 5.22 1 Membrane NA NA NA Belongs to the cTAGE family. NA PE1 6 +NX_A4FU49 SH3 domain-containing protein 21 640 70519 5.6 0 Nucleoplasm;Cell membrane NA NA NA NA NA PE1 1 +NX_A4FU69 EF-hand calcium-binding domain-containing protein 5 1503 173404 5.58 0 NA NA NA NA NA NA PE1 17 +NX_A4GXA9 Probable crossover junction endonuclease EME2 379 41178 5.97 0 Nucleus NA Interacts with MUS81 to form a DNA structure-specific endonuclease which cleaves substrates such as 3'-flap structures. NA Belongs to the EME1/MMS4 family. Fanconi anemia pathway;Resolution of D-loop Structures through Holliday Junction Intermediates;Fanconi Anemia Pathway PE1 16 +NX_A4IF30 Solute carrier family 35 member F4 521 57809 9 10 Membrane;Nucleolus NA Putative solute transporter. NA Belongs to the SLC35F solute transporter family. NA PE2 14 +NX_A4QMS7 Uncharacterized protein C5orf49 147 16991 7.02 0 NA NA NA NA NA NA PE1 5 +NX_A4QN01 Putative uncharacterized protein encoded by LINC01553 128 15288 9.18 0 NA NA NA NA NA NA PE2 10 +NX_A4QPB2 Low-density lipoprotein receptor-related protein 5-like protein 252 28483 5.92 0 Nucleoplasm NA NA NA NA NA PE2 22 +NX_A4QPH2 Putative phosphatidylinositol 4-kinase alpha-like protein P2 592 66944 6.68 0 NA NA NA NA Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily. NA PE5 22 +NX_A4UGR9 Xin actin-binding repeat-containing protein 2 3374 382300 5.99 0 Nucleoplasm;Cell junction;Cell membrane NA Protects actin filaments from depolymerization. NA Belongs to the Xin family. NA PE1 2 +NX_A5A3E0 POTE ankyrin domain family member F 1075 121445 5.82 0 Cell cortex NA NA NA In the N-terminal section; belongs to the POTE family.;In the C-terminal section; belongs to the actin family. NA PE1 2 +NX_A5D6W6 Fat storage-inducing transmembrane protein 1 292 32207 9.86 6 Endoplasmic reticulum membrane NA Plays an important role in lipid droplet accumulation. NA Belongs to the FIT family. Lipid particle organization PE1 14 +NX_A5D8T8 C-type lectin domain family 18 member A 446 49602 8.47 0 Endoplasmic reticulum;Golgi apparatus;Endosome;Secreted NA Binds polysaccharides in a Ca(2+)-independent manner with a preferentially binding to fucoidan, beta-glucans and galactans (PubMed:26170455). N-glycosylated. NA NA PE1 16 +NX_A5D8V6 Vacuolar protein sorting-associated protein 37C 355 38659 5.19 0 Nucleoplasm;Late endosome membrane;Cytoplasmic vesicle NA Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation. Phosphorylated by TBK1. Belongs to the VPS37 family. Endocytosis;Budding and maturation of HIV virion;Membrane binding and targetting of GAG proteins;Endosomal Sorting Complex Required For Transport (ESCRT);Microautophagy PE1 11 +NX_A5D8V7 Coiled-coil domain-containing protein 151 595 69140 9.11 0 Centriole;Cilium;Cilium basal body;Nucleoplasm;Cilium axoneme Ciliary dyskinesia, primary, 30 Ciliary protein involved in outer dynein arm assembly and required for motile cilia function. NA NA NA PE1 19 +NX_A5D8W1 Cilia- and flagella-associated protein 69 941 105883 6.81 0 Cilium;Flagellum Spermatogenic failure 24 Cilium- and flagellum-associated protein (PubMed:29606301). In the olfactory epithelium, regulates the speed of activation and termination of the odor response and thus contributes to the robustness of olfactory transduction pathways (By similarity). Required for sperm flagellum assembly and stability (PubMed:29606301). NA NA NA PE1 7 +NX_A5LHX3 Proteasome subunit beta type-11 300 32530 5.99 0 Cytoplasm;Nucleus NA The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. Incorporated instead of PSMB5 or PSMB8, this unit reduces the chymotrypsin-like activity of the proteasome (By similarity). Plays a pivotal role in development of CD8-positive T cells (By similarity). NA Belongs to the peptidase T1B family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 14 +NX_A5PKW4 PH and SEC7 domain-containing protein 1 1024 109543 6.43 0 Cleavage furrow;Cell membrane;Nucleoplasm;Ruffle membrane;Cytosol NA Guanine nucleotide exchange factor for ARF6 (PubMed:23603394). Induces cytoskeletal remodeling (By similarity). NA Belongs to the PSD family. Endocytosis PE1 10 +NX_A5PL33 Protein KRBA1 1030 107498 8.09 0 Nucleoplasm;Cytosol NA NA NA NA Generic Transcription Pathway PE1 7 +NX_A5PLK6 Regulator of G-protein signaling protein-like 1076 125688 9.15 1 Membrane NA NA NA NA G alpha (i) signalling events;G alpha (q) signalling events;G alpha (z) signalling events PE1 1 +NX_A5PLL1 Ankyrin repeat domain-containing protein 34B 514 56414 7.61 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cytosol;Nucleus NA NA Phosphorylated. Belongs to the ANKRD34 family. NA PE1 5 +NX_A5PLL7 Transmembrane protein 189 270 31135 6.33 3 Endoplasmic reticulum;Endoplasmic reticulum membrane NA NA NA NA NA PE1 20 +NX_A5PLN7 Protein FAM149A 773 82698 9.53 0 Golgi apparatus NA NA NA Belongs to the FAM149 family. NA PE1 4 +NX_A5PLN9 Trafficking protein particle complex subunit 13 417 46524 5.4 0 Nucleoplasm;Cell membrane NA NA NA Belongs to the TRAPPC13 family. RAB GEFs exchange GTP for GDP on RABs PE1 5 +NX_A5X5Y0 5-hydroxytryptamine receptor 3E 456 51438 6.46 4 Cell membrane NA This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3E sub-subfamily. Neurotransmitter receptors and postsynaptic signal transmission PE1 3 +NX_A5YKK6 CCR4-NOT transcription complex subunit 1 2376 266939 6.65 0 Cytosol;P-body;Nucleus NA Scaffolding component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Its scaffolding function implies its interaction with the catalytic complex module and diverse RNA-binding proteins mediating the complex recruitment to selected mRNA 3'UTRs. Involved in degradation of AU-rich element (ARE)-containing mRNAs probably via association with ZFP36. Mediates the recruitment of the CCR4-NOT complex to miRNA targets and to the RISC complex via association with TNRC6A, TNRC6B or TNRC6C. Acts as a transcriptional repressor. Represses the ligand-dependent transcriptional activation by nuclear receptors. Involved in the maintenance of embryonic stem (ES) cell identity. NA Belongs to the CNOT1 family. RNA degradation;Deadenylation of mRNA;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 16 +NX_A5YM69 Rho guanine nucleotide exchange factor 35 484 53287 4.27 0 NA NA NA NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 7 +NX_A5YM72 Carnosine synthase 1 827 88484 5.83 0 NA NA Catalyzes the synthesis of carnosine and homocarnosine. Carnosine is synthesized more efficiently than homocarnosine. NA NA Arginine and proline metabolism;Histidine metabolism;beta-Alanine metabolism;Histidine catabolism PE1 11 +NX_A6BM72 Multiple epidermal growth factor-like domains protein 11 1044 110844 5.78 1 Basolateral cell membrane;Cell membrane NA May regulate the mosaic spacing of specific neuron subtypes in the retina through homotypic retinal neuron repulsion. Mosaics provide a mechanism to distribute each cell type evenly across the retina, ensuring that all parts of the visual field have access to a full set of processing elements (By similarity). NA Belongs to the MEGF family. NA PE1 15 +NX_A6H8M9 Cadherin-related family member 4 788 85827 5.24 1 Membrane NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types (By similarity). NA NA NA PE1 3 +NX_A6H8Y1 Transcription factor TFIIIB component B'' homolog 2624 293885 5.06 0 Nucleoplasm;Nucleus Deafness, autosomal recessive, 112 General activator of RNA polymerase III transcription. Requires for transcription from all three types of polymerase III promoters. Requires for transcription of genes with internal promoter elements and with promoter elements upstream of the initiation site. Phosphorylated by CSNK2A1 during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. NA RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter PE1 5 +NX_A6H8Z2 Protein FAM221B 402 45394 5.37 0 NA NA NA NA Belongs to the FAM221 family. NA PE1 9 +NX_A6NC05 Glutaredoxin-like protein C5orf63 138 15764 9.26 0 Mitochondrion NA NA NA Belongs to the glutaredoxin family. YDR286C subfamily. NA PE1 5 +NX_A6NC42 Developmental pluripotency-associated 5 protein 116 13498 9.26 0 Cytoplasm NA Involved in the maintenance of embryonic stem (ES) cell pluripotency. Dispensable for self-renewal of pluripotent ES cells and establishment of germ cells. Associates with specific target mRNAs (By similarity). NA Belongs to the KHDC1 family. NA PE1 6 +NX_A6NC51 Modulator of macroautophagy TMEM150B 233 25701 9.05 6 Autophagosome membrane;Cell membrane;Endosome membrane NA Modulator of macroautophagy that causes accumulation of autophagosomes under basal conditions and enhances autophagic flux (PubMed:25929859). Represses cell death and promotes long-term clonogenic survival of cells grown in the absence of glucose in a macroautophagy-independent manner (PubMed:25929859). May have some role in extracellular matrix engulfment or growth factor receptor recycling, both of which can modulate cell survival (PubMed:25929859). NA Belongs to the DRAM/TMEM150 family. NA PE2 19 +NX_A6NC57 Ankyrin repeat domain-containing protein 62 917 106446 6.25 0 NA NA NA NA NA NA PE2 18 +NX_A6NC62 Putative RBAK downstream neighbor protein 111 12297 9.05 0 NA NA NA NA NA NA PE5 7 +NX_A6NC78 Putative golgin subfamily A member 8I 632 71330 7.14 0 Golgi stack membrane NA May be involved in maintaining Golgi structure. NA Belongs to the GOLGA8 family. NA PE5 15 +NX_A6NC86 phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein 204 21926 8.37 0 Cytoplasmic vesicle;Secreted NA NA NA Belongs to the CNF-like-inhibitor family. NA PE1 19 +NX_A6NC97 Putative protein FAM172B 362 41969 8.59 1 Membrane NA NA NA Belongs to the FAM172 family. NA PE5 3 +NX_A6NC98 Coiled-coil domain-containing protein 88B 1476 164809 5.09 0 Cytoplasm;Golgi apparatus;Microtubule organizing center;Membrane;Endoplasmic reticulum;Nucleoplasm;Centrosome;Cytosol NA Acts as a positive regulator of T-cell maturation and inflammatory function. Required for several functions of T-cells, in both the CD4(+) and the CD8(+) compartments and this includes expression of cell surface markers of activation, proliferation, and cytokine production in response to specific or non-specific stimulation (By similarity). Enhances NK cell cytotoxicity by positively regulating polarization of microtubule-organizing center (MTOC) to cytotoxic synapse, lytic granule transport along microtubules, and dynein-mediated clustering to MTOC (PubMed:25762780). Interacts with HSPA5 and stabilizes the interaction between HSPA5 and ERN1, leading to suppression of ERN1-induced JNK activation and endoplasmic reticulum stress-induced apoptosis (PubMed:21289099). NA Belongs to the CCDC88 family. NA PE1 11 +NX_A6NCC3 Golgin subfamily A member 8O 632 71536 5.98 0 NA NA NA NA Belongs to the GOLGA6 family. NA PE1 15 +NX_A6NCE7 Microtubule-associated proteins 1A/1B light chain 3 beta 2 125 14628 8.73 0 Autophagosome membrane;Endomembrane system;Cytoskeleton NA Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes). Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (By similarity). The precursor molecule is cleaved by APG4B/ATG4B to form LC3-I. This is activated by APG7L/ATG7, transferred to ATG3 and conjugated to phospholipid to form LC3-II. Belongs to the ATG8 family. NA PE2 12 +NX_A6NCF5 Kelch-like protein 33 533 57810 6.98 0 NA NA NA NA NA NA PE2 14 +NX_A6NCF6 Putative MAGE domain-containing protein MAGEA13P 341 37899 5.98 0 NA NA NA NA NA NA PE5 X +NX_A6NCI4 von Willebrand factor A domain-containing protein 3A 1184 134020 8.74 0 Secreted NA NA NA NA NA PE1 16 +NX_A6NCI5 Putative transmembrane protein encoded by LINC00862 91 10419 6.94 1 Membrane NA NA NA NA NA PE5 1 +NX_A6NCI8 Uncharacterized protein C2orf78 922 100170 9.12 0 NA NA NA NA NA NA PE2 2 +NX_A6NCJ1 Uncharacterized protein C19orf71 209 24176 9.14 0 Endoplasmic reticulum;Cytosol;Cell membrane NA NA NA NA NA PE1 19 +NX_A6NCK2 Tripartite motif-containing protein 43B 446 52310 8.07 0 NA NA NA NA Belongs to the TRIM/RBCC family. NA PE2 2 +NX_A6NCL1 Geminin coiled-coil domain-containing protein 1 334 37887 5.79 0 Nucleus NA Regulator of DNA replication. Promotes initiation of chromosomal DNA replication by mediating TOPBP1- and CDK2-dependent recruitment of CDC45L onto replication origins (By similarity). Highly phosphorylated by CDK2; stimulates initiation of DNA replication. Belongs to the GEMC1 family. NA PE1 3 +NX_A6NCL2 Leucine-rich colipase-like protein 1 159 17834 8.55 0 NA NA NA NA NA NA PE1 12 +NX_A6NCL7 Ankyrin repeat domain-containing protein 33B 494 53975 8.27 0 Mitochondrion NA NA NA NA NA PE1 5 +NX_A6NCM1 IQ and AAA domain-containing protein 1-like 818 95061 9.22 0 NA NA NA NA Belongs to the AAA ATPase family. NA PE1 7 +NX_A6NCN2 Putative keratin-87 protein 255 29117 5.64 0 NA NA NA NA Belongs to the intermediate filament family. NA PE5 12 +NX_A6NCN8 Testis-expressed protein 52 305 35334 10.17 0 NA NA NA NA NA NA PE1 12 +NX_A6NCQ9 RING finger protein 222 220 23767 9.08 1 Membrane NA NA NA NA NA PE1 17 +NX_A6NCS4 Homeobox protein Nkx-2.6 301 32121 9.91 0 Nucleus Conotruncal heart malformations Acts as a transcriptional activator (PubMed:15649947). In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development. NA Belongs to the NK-2 homeobox family. NA PE1 8 +NX_A6NCS6 Uncharacterized protein C2orf72 295 30481 8.73 0 Nucleoplasm;Cell membrane NA NA NA NA NA PE1 2 +NX_A6NCV1 Olfactory receptor 6C74 312 35253 8.95 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 12 +NX_A6NCW0 Ubiquitin carboxyl-terminal hydrolase 17-like protein 3 530 59536 7.83 0 Endoplasmic reticulum;Nucleus NA Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection. NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE3 8 +NX_A6NCW7 Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 4 530 59636 7.1 0 Endoplasmic reticulum;Nucleus NA NA NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE3 8 +NX_A6ND01 Sperm-egg fusion protein Juno 250 28672 5.88 0 Cell membrane NA Receptor for IZUMO1 present at the cell surface of oocytes (oolemma), which is essential for species-specific gamete recognition and fertilization. The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is required for fertilization but is not sufficient for cell fusion. The ligand-receptor interaction probably does not act as a membrane 'fusogen'. Does not bind folate. The protein is rapidly cleaved following fertilization, being only weakly detectable in zona-intact fertilized eggs at telophase II and undetectable at the pronuclear stage. Sheding is probably required to block to polyspermy and ensuring egg fusion with a single sperm. Belongs to the folate receptor family. Endocytosis;Post-translational modification: synthesis of GPI-anchored proteins PE1 11 +NX_A6ND36 Protein FAM83G 823 90835 5.97 0 Cytosol;Nucleus NA May regulate the bone morphogenetic proteins (BMP) pathway. BMP signaling induces the phosphorylation of PAWS1 by BMPR1A at Ser-610, Ser-614 and Ser-616. In response to BMP phosphorylation at Ser-610 is necessary for the activation of SMAD4-independent BMP target genes such as NEDD9 and ASNS. Belongs to the FAM83 family. NA PE1 17 +NX_A6ND48 Olfactory receptor 14I1 311 35175 8.89 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_A6ND91 Putative L-aspartate dehydrogenase 283 29946 6.79 0 Nucleoplasm;Spindle;Cytoskeleton NA Specifically catalyzes the NAD or NADP-dependent dehydrogenation of L-aspartate to iminoaspartate. NA Belongs to the L-aspartate dehydrogenase family. Cofactor biosynthesis; NAD(+) biosynthesis; iminoaspartate from L-aspartate (dehydrogenase route): step 1/1. PE1 19 +NX_A6NDA9 Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 550 60168 5.65 1 Membrane NA NA NA NA NA PE1 10 +NX_A6NDB9 Paralemmin-3 673 71695 4.53 0 Cytoplasm;Nucleoplasm;Nucleus;Cell membrane NA ATP-binding protein, which may act as a adapter in the Toll-like receptor (TLR) signaling. Palmitoylated on Cys-667 and Cys-669 and prenylated on Cys-670; which is required for membrane association. Belongs to the paralemmin family. NA PE1 19 +NX_A6NDD5 Synapse differentiation-inducing gene protein 1-like 238 25796 4.55 2 cis-Golgi network;Membrane NA NA NA Belongs to the CD225/Dispanin family. NA PE2 14 +NX_A6NDE4 RNA-binding motif protein, Y chromosome, family 1 member B 496 55835 9.96 0 Nucleus NA RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by participating in pre-mRNA splicing in the testis. NA NA NA PE2 Y +NX_A6NDE8 G antigen 12H 117 12924 4.33 0 NA NA NA NA Belongs to the GAGE family. NA PE2 X +NX_A6NDG6 Glycerol-3-phosphate phosphatase 321 34006 5.85 0 Nucleus NA Glycerol-3-phosphate phosphatase hydrolyzing glycerol-3-phosphate into glycerol. Thereby, regulates the cellular levels of glycerol-3-phosphate a metabolic intermediate of glucose, lipid and energy metabolism. Was also shown to have a 2-phosphoglycolate phosphatase activity and a tyrosine-protein phosphatase activity. However, their physiological relevance is unclear (PubMed:26755581). In vitro, has also a phosphatase activity toward ADP, ATP, GDP and GTP (By similarity). NA Belongs to the HAD-like hydrolase superfamily. CbbY/CbbZ/Gph/YieH family. Glyoxylate and dicarboxylate metabolism;Metabolic pathways;Glycolysis PE1 16 +NX_A6NDH6 Olfactory receptor 5H15 313 35352 8.77 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 3 +NX_A6NDI0 Putative tripartite motif-containing protein 49B 452 52747 7.06 0 NA NA NA NA Belongs to the TRIM/RBCC family. NA PE2 11 +NX_A6NDK9 Golgin subfamily A member 6C 693 79884 5.31 0 NA NA NA NA Belongs to the GOLGA6 family. NA PE1 15 +NX_A6NDL7 Putative methyltransferase-like protein 21E pseudogene 271 31188 5.73 0 NA NA Protein-lysine methyltransferase. NA Belongs to the methyltransferase superfamily. METTL21 family. NA PE5 13 +NX_A6NDL8 Olfactory receptor 6C68 312 35296 9.01 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 12 +NX_A6NDN3 Golgin subfamily A member 6B 693 79913 5.4 0 NA NA NA NA Belongs to the GOLGA6 family. NA PE1 15 +NX_A6NDN8 Putative ubiquitin-like protein FUBI-like protein ENSP00000310146 102 10909 8.84 0 NA NA NA NA NA NA PE4 11 +NX_A6NDP7 Myeloid-associated differentiation marker-like protein 2 307 32967 8.82 7 Membrane NA NA NA Belongs to the MAL family. NA PE2 17 +NX_A6NDR6 Putative homeobox protein Meis3-like 1 274 30204 4.84 0 Nucleus NA NA NA Belongs to the TALE/MEIS homeobox family. NA PE5 17 +NX_A6NDS4 TBC1 domain family member 3B 549 62320 9.25 0 Cell membrane NA Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination.;Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation. NA NA PE2 17 +NX_A6NDU8 UPF0600 protein C5orf51 294 33620 5.15 0 Nucleoplasm;Cytosol NA NA NA Belongs to the UPF0600 family. NA PE1 5 +NX_A6NDV4 Transmembrane protein 8B 472 51941 8.35 7 Cytoplasm;Mitochondrion;Cell membrane;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleus NA May function as a regulator of the EGFR pathway. Probable tumor suppressor which may function in cell growth, proliferation and adhesion. Is N-glycosylated. Belongs to the TMEM8 family. NA PE1 9 +NX_A6NDX4 Putative transmembrane protein ENSP00000320207 124 13671 8.96 1 Membrane NA NA NA NA NA PE5 15 +NX_A6NDX5 Putative zinc finger protein 840 716 83235 9.69 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE5 20 +NX_A6NDY0 Embryonic polyadenylate-binding protein 2 278 30386 4.84 0 Cytoplasm NA Binds the poly(A) tail of mRNA. NA NA mRNA surveillance pathway;Influenza A PE2 16 +NX_A6NDY2 Putative protein FAM90A10P 464 49635 9.76 0 NA NA NA NA Belongs to the FAM90 family. NA PE5 8 +NX_A6NDZ8 Putative methyl-CpG-binding domain protein 3-like 4 208 23121 11.45 0 NA NA NA NA Belongs to the MBD3L family. NA PE5 19 +NX_A6NE01 Protein FAM186A 2351 262758 8.66 0 NA NA NA NA Belongs to the FAM186 family. NA PE1 12 +NX_A6NE02 BTB/POZ domain-containing protein 17 478 52471 8.91 0 Secreted NA NA NA NA NA PE1 17 +NX_A6NE21 Putative protein FAM90A18P/FAM90A19P 464 49680 9.93 0 NA NA NA NA Belongs to the FAM90 family. NA PE5 8 +NX_A6NE52 WD repeat-containing protein 97 1622 180307 7.56 0 NA NA NA NA NA NA PE1 8 +NX_A6NE82 Putative methyl-CpG-binding domain protein 3-like 3 208 23095 11.45 0 NA NA NA NA Belongs to the MBD3L family. NA PE5 19 +NX_A6NEC2 Puromycin-sensitive aminopeptidase-like protein 478 53747 5.17 0 NA NA Aminopeptidase with broad substrate specificity to several peptides. NA Belongs to the peptidase M1 family. NA PE1 17 +NX_A6NED2 RCC1 domain-containing protein 1 376 40079 5.18 0 Cytosol;Cell membrane;Chromosome NA Plays a role in transcriptional repression of satellite repeats, possibly by regulating H3K36 methylation levels in centromeric regions together with KDM8 (PubMed:24981860). Possibly together with KDM8, is involved in proper mitotic spindle organization and chromosome segregation (PubMed:24981860). Plays a role in regulating alpha-tubulin deacetylation and cytoskeletal microtubule stability, thereby promoting cell migration and TGF-beta-induced epithelial to mesenchymal transition (EMT), potentially through the inhibition of KDM8 (PubMed:28455245). Specifically hydroxylated (with R stereochemistry) at C-3 of ARG-141 by KDM8. NA NA PE1 15 +NX_A6NEE1 Pleckstrin homology domain-containing family D member 1 506 59203 6.1 0 NA NA NA NA Belongs to the PLEKHD1 family. NA PE1 14 +NX_A6NEF3 Golgin subfamily A member 6-like protein 4 574 67563 4.81 0 NA NA NA NA Belongs to the GOLGA6 family. NA PE2 15 +NX_A6NEH6 Transmembrane protein 247 219 25168 5.51 2 Membrane NA NA NA NA NA PE1 2 +NX_A6NEH8 Putative uncharacterized protein encoded by ZNF503-AS2 195 20902 11.72 0 NA NA NA NA NA NA PE5 10 +NX_A6NEK1 Arrestin domain-containing protein 5 342 38383 6.22 0 NA NA NA NA Belongs to the arrestin family. NA PE1 19 +NX_A6NEL2 Ankyrin repeat domain-containing protein SOWAHB 793 85742 9.64 0 Nucleolus NA NA NA Belongs to the SOWAH family. NA PE1 4 +NX_A6NEL3 Putative protein FAM86C2P 165 18478 8.19 0 NA NA NA NA Belongs to the class I-like SAM-binding methyltransferase superfamily. EEF2KMT family. NA PE5 11 +NX_A6NEM1 Golgin subfamily A member 6-like protein 9 432 49193 5.08 0 NA NA NA NA Belongs to the GOLGA6 family. NA PE1 15 +NX_A6NEN9 Uncharacterized protein CXorf65 183 21305 10.33 0 NA NA NA NA NA NA PE1 X +NX_A6NEQ0 RNA-binding motif protein, Y chromosome, family 1 member E 496 55759 9.95 0 Nucleus NA RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by participating in pre-mRNA splicing in the testis. NA NA NA PE2 Y +NX_A6NEQ2 Protein FAM181B 426 42657 5.39 0 Mitochondrion;Nucleus membrane NA NA NA Belongs to the FAM181 family. NA PE2 11 +NX_A6NER0 TBC1 domain family member 3F 549 62185 9.24 0 Cell membrane NA Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination.;Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation. NA NA PE2 17 +NX_A6NER3 G antigen 12J 117 12896 4.22 0 NA NA NA NA Belongs to the GAGE family. NA PE1 X +NX_A6NES4 Maestro heat-like repeat-containing protein family member 2A 1674 189561 6.23 0 Cytosol NA NA NA NA NA PE1 2 +NX_A6NET4 Olfactory receptor 5K3 321 36711 8.32 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 3 +NX_A6NEV1 Proline-rich protein 23A 266 28155 4.57 0 NA NA NA NA Belongs to the PRR23 family. NA PE2 3 +NX_A6NEW6 Putative protein FAM90A16P/FAM90A17P 464 49759 9.95 0 NA NA NA NA Belongs to the FAM90 family. NA PE5 8 +NX_A6NEY3 Putative golgin subfamily A member 6-like protein 3 463 55643 4.81 0 NA NA NA NA Belongs to the GOLGA6 family. NA PE5 15 +NX_A6NEY8 Putative prolyl-tRNA synthetase associated domain-containing protein 1 169 18658 5.82 0 NA NA NA NA Belongs to the PRORSD1 family. NA PE5 2 +NX_A6NF01 Putative nuclear envelope pore membrane protein POM 121B 834 83015 9.95 0 Nuclear pore complex NA Putative component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane (By similarity). NA Belongs to the POM121 family. NA PE5 7 +NX_A6NF34 Anthrax toxin receptor-like 631 70629 8.78 1 Membrane NA NA NA Belongs to the ATR family. NA PE1 10 +NX_A6NF36 Coiled-coil domain-containing protein 182 153 17536 6.19 0 NA NA NA NA NA NA PE1 17 +NX_A6NF83 Nuclear protein 2 97 11356 10.5 0 Nucleus NA Acts as a transcriptional repressor by inhibiting gene expression at the NUPR1 promoter in a p53/TP53-dependent manner in cancer cells (PubMed:25899918). Involved in the G1 cell cycle arrest, and in a decrease in cell viability and cell proliferation (PubMed:25899918). Plays a role as a negative regulator of the protumoral factor NUPR1 (PubMed:25899918). NA Belongs to the NUPR family. NA PE1 7 +NX_A6NF89 Olfactory receptor 6C6 314 35963 8.98 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 12 +NX_A6NFA0 Protein FAM205C 338 37613 8.24 1 Membrane NA NA NA NA NA PE1 9 +NX_A6NFA1 Metalloprotease TIKI2 517 57421 6.19 1 Cell membrane NA Metalloprotease that acts as a negative regulator of the Wnt signaling pathway by mediating the cleavage of the 8 N-terminal residues of a subset of Wnt proteins. Following cleavage, Wnt proteins become oxidized and form large disulfide-bond oligomers, leading to their inactivation. Able to cleave WNT3A, WNT5, but not WNT11. Required for head formation. NA Belongs to the TIKI family. NA PE1 1 +NX_A6NFC5 Transmembrane protein 235 223 23360 5.56 3 Membrane;Endoplasmic reticulum NA NA N-glycosylated. Belongs to the PMP-22/EMP/MP20 family. NA PE2 17 +NX_A6NFC9 Putative olfactory receptor 2W5 320 35528 6.35 4 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 1 +NX_A6NFD8 Hairy and enhancer of split-related protein HELT 242 26913 9.39 0 Nucleus NA Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGCG-3'. NA Belongs to the HEY family. NA PE2 4 +NX_A6NFE2 Single-pass membrane and coiled-coil domain-containing protein 2 343 39487 4.74 1 Membrane NA NA NA NA NA PE2 12 +NX_A6NFE3 EF-hand calcium-binding domain-containing protein 10 127 14721 5.28 0 NA NA NA NA NA NA PE1 7 +NX_A6NFF2 Putative nucleosome assembly protein 1-like 6 107 12045 6.13 0 NA NA NA NA Belongs to the nucleosome assembly protein (NAP) family. NA PE5 X +NX_A6NFH5 Fatty acid-binding protein 12 140 15565 7.71 0 NA NA May play a role in lipid transport. NA Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. Triglyceride catabolism PE1 8 +NX_A6NFI3 Zinc finger protein 316 1004 108437 5.18 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 7 +NX_A6NFK2 Glutaredoxin domain-containing cysteine-rich protein 2 248 28284 6.26 0 Stereocilium Deafness, autosomal recessive, 101 Could play a role in maintaining cochlear stereocilia bundles that are involved in sound detection. NA Belongs to the GRXCR1 family. NA PE2 5 +NX_A6NFN3 RNA binding protein fox-1 homolog 3 312 33873 6.71 0 Nucleoplasm;Cytoplasm;Nucleus NA Pre-mRNA alternative splicing regulator. Regulates alternative splicing of RBFOX2 to enhance the production of mRNA species that are targeted for nonsense-mediated decay (NMD). NA NA NA PE1 17 +NX_A6NFN9 Protein ANKUB1 502 56600 9.29 0 NA NA NA NA NA NA PE2 3 +NX_A6NFQ2 TRPM8 channel-associated factor 2 919 100906 6.75 0 Cell junction;Cell membrane NA Negatively regulates the plasma membrane cation channel TRPM8 activity. Involved in the recruitment of TRPM8 to the cell surface. Promotes prostate cancer cell migration stimulation in a TRPM8-dependent manner. NA Belongs to the TCAF family. NA PE1 7 +NX_A6NFQ7 Divergent paired-related homeobox 191 21648 9.55 0 Nucleus NA Putative transcription factor. NA Belongs to the paired homeobox family. NA PE2 19 +NX_A6NFR6 Uncharacterized protein C5orf60 353 39250 9.54 1 Membrane NA NA NA NA NA PE1 5 +NX_A6NFT4 Cilia- and flagella-associated protein 73 308 35914 7.01 0 Nucleoplasm;Cilium axoneme;Nucleolus;Cytoplasmic vesicle NA May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm. NA Belongs to the CFAP73 family. NA PE1 12 +NX_A6NFU0 Ig-like V-type domain-containing protein FAM187A 413 47349 8.23 1 Membrane NA NA NA Belongs to the FAM187 family. NA PE1 17 +NX_A6NFU8 Pyroglutamyl-peptidase 1-like protein 196 21631 8.26 0 NA NA NA NA Belongs to the peptidase C15 family. NA PE2 15 +NX_A6NFX1 Major facilitator superfamily domain-containing protein 2B 504 53743 9.1 10 Cell membrane NA Cation-dependent lipid transporter that specifically mediates export of sphingosine-1-phosphate in red blood cells and platelets (PubMed:29045386). Sphingosine-1-phosphate is a signaling sphingolipid and its export from red blood cells into in the plasma is required for red blood cell morphology (By similarity). Does not transport lysophosphatidylcholine (LPC) (By similarity). NA Belongs to the major facilitator superfamily. NA PE1 2 +NX_A6NFY4 Nuclear envelope integral membrane protein 2 417 48664 8.63 5 Nucleoplasm;Nucleus inner membrane NA NA NA Belongs to the NEMP family. NA PE1 2 +NX_A6NFY7 Succinate dehydrogenase assembly factor 1, mitochondrial 115 12806 11.39 0 Mitochondrion matrix;Mitochondrion Mitochondrial complex II deficiency Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol (PubMed:24954417, PubMed:19465911). Promotes maturation of the iron-sulfur protein subunit SDHB of the SDH catalytic dimer, protecting it from the deleterious effects of oxidants (PubMed:24954417). May act together with SDHAF3 (PubMed:24954417). Contributes to iron-sulfur cluster incorporation into SDHB by binding to SDHB and recruiting the iron-sulfur transfer complex formed by HSC20, HSPA9 and ISCU through direct binding to HSC20 (PubMed:26749241). NA Belongs to the complex I LYR family. SDHAF1 subfamily. NA PE1 19 +NX_A6NFZ4 Protein FAM24A 105 11258 8.08 0 Secreted NA NA NA Belongs to the FAM24 family. NA PE1 10 +NX_A6NG13 Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D 374 43743 9.62 1 Endoplasmic reticulum membrane;Golgi apparatus membrane NA May play a role in male spermatogenesis. In vitro acts as inhibitor of MGAT1 activity causing cell surface proteins to carry mainly high mannose N-glycans. The function is mediated by its lumenal domain and occurs specifically in the Golgi. A catalytic glucosyltransferase activity is not detected. May be involved in regulation of Sertoli-germ cell interactions during specific stages of spermatogenesis. NA Belongs to the glycosyltransferase 54 family. NA PE2 4 +NX_A6NGA9 Transmembrane protein 202 273 31353 8.84 4 Membrane NA NA NA NA NA PE2 15 +NX_A6NGB0 Transmembrane protein 191C 347 39292 8.72 1 Membrane NA NA NA Belongs to the TMEM191 family. NA PE2 22 +NX_A6NGB7 Transmembrane protein 221 291 30293 8.62 4 Membrane;Nucleus membrane NA NA NA NA NA PE1 19 +NX_A6NGB9 WAS/WASL-interacting protein family member 3 483 49458 10.16 0 Cytoplasm;Mitochondrion NA May be a regulator of cytoskeletal organization. May have a role in spermatogenesis (By similarity). NA Belongs to the verprolin family. Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs PE1 7 +NX_A6NGC4 TLC domain-containing protein 2 264 28733 10.14 6 Cytoplasmic vesicle;Nucleolus;Cell membrane NA Regulates the composition and fluidity of the plasma membrane (PubMed:30509349). Inhibits the incorporation of membrane-fluidizing phospholipids containing omega-3 long-chain polyunsaturated fatty acids (LCPUFA) and thereby promotes membrane rigidity (PubMed:30509349). Does not appear to have any effect on LCPUFA synthesis (PubMed:30509349). NA Belongs to the TLCD family. NA PE1 17 +NX_A6NGD5 Zinc finger and SCAN domain-containing protein 5C 496 55729 8.32 0 Nucleus NA May be involved in transcriptional regulation. NA NA NA PE2 19 +NX_A6NGE4 DDB1- and CUL4-associated factor 8-like protein 1 600 67373 4.75 0 NA NA NA NA Belongs to the WD repeat DCAF8 family. NA PE1 X +NX_A6NGE7 Putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase 173 19130 5.78 0 Peroxisome NA Catalyzes the stereoselective decarboxylation of 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline (OHCU) to (S)-allantoin. NA Belongs to the OHCU decarboxylase family. Purine metabolism; urate degradation; (S)-allantoin from urate: step 3/3.;Purine metabolism;Metabolic pathways PE5 13 +NX_A6NGG3 Putative uncharacterized protein C9orf92 77 8520 9.6 0 NA NA NA NA NA NA PE2 9 +NX_A6NGG8 Photoreceptor cilium actin regulator 1288 139655 8.4 0 Photoreceptor inner segment;Photoreceptor outer segment Retinitis pigmentosa 54 Plays an essential role for normal photoreceptor cell maintenance and vision. NA NA NA PE1 2 +NX_A6NGH7 Coiled-coil domain-containing protein 160 325 38277 5.35 0 NA NA NA NA Belongs to the CCDC160 family. NA PE1 X +NX_A6NGH8 Ankyrin repeat domain-containing protein 61 418 46141 9.1 0 Nucleoplasm NA NA NA NA NA PE2 7 +NX_A6NGJ6 Tripartite motif-containing protein 64 449 51566 5.01 0 NA NA NA NA Belongs to the TRIM/RBCC family. NA PE2 11 +NX_A6NGK3 G antigen 10 116 12651 4.3 0 NA NA NA NA Belongs to the GAGE family. NA PE1 X +NX_A6NGN4 PRAME family member 25 478 55354 8.95 0 NA NA NA NA Belongs to the PRAME family. NA PE3 1 +NX_A6NGN9 IgLON family member 5 336 36795 6.96 0 Secreted NA NA NA Belongs to the immunoglobulin superfamily. IgLON family. NA PE1 19 +NX_A6NGQ2 Oocyte-expressed protein homolog 149 17170 6.59 0 Cytoplasm NA As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions. NA Belongs to the KHDC1 family. NA PE1 6 +NX_A6NGR9 Maestro heat-like repeat-containing protein family member 6 719 77186 9.88 0 Nucleoplasm NA NA NA NA NA PE1 8 +NX_A6NGS2 Glutamate-rich protein 4 130 14477 4.26 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 19 +NX_A6NGU5 Putative glutathione hydrolase 3 proenzyme 568 61502 6.68 1 Membrane NA Initiates extracellular glutathione (GSH) breakdown; catalyzes the transfer of the glutamyl moiety of glutathione to amino acids and dipeptide acceptors. Cleaved by autocatalysis into a large and a small subunit. Belongs to the gamma-glutamyltransferase family. Sulfur metabolism; glutathione metabolism.;Aflatoxin activation and detoxification;Glutathione synthesis and recycling PE5 22 +NX_A6NGU7 Putative uncharacterized protein encoded by LINC01546 62 7222 10.44 0 NA NA NA NA NA NA PE5 X +NX_A6NGW2 Putative stereocilin-like protein 1772 192437 5.26 0 Secreted NA NA NA Belongs to the stereocilin family. NA PE5 15 +NX_A6NGY1 Protein FRG2-like-2 282 30798 7.09 0 Nucleus NA NA NA Belongs to the FRG2 family. NA PE2 3 +NX_A6NGY3 Uncharacterized protein C5orf52 159 17908 10.21 0 NA NA NA NA NA NA PE1 5 +NX_A6NGY5 Olfactory receptor 51F1 319 35849 8.3 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 11 +NX_A6NGZ8 Small integral membrane protein 9 99 10777 8.46 1 Cell membrane NA NA NA NA NA PE2 X +NX_A6NH00 Olfactory receptor 2T8 312 34659 8.66 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_A6NH11 Glycolipid transfer protein domain-containing protein 2 291 31642 10.19 0 Cytoplasmic vesicle NA NA NA Belongs to the GLTP family. NA PE1 17 +NX_A6NH13 Putative uncharacterized protein DNAJC9-AS1 148 15587 9.94 0 NA NA NA NA NA NA PE2 10 +NX_A6NH21 Serine incorporator 4 518 56870 8.75 10 Membrane NA Incorporates a polar amino acid serine into membranes and facilitates the synthesis of two serine-derived lipids, phosphatidylserine and sphingolipids. NA Belongs to the TDE1 family. Serine biosynthesis PE2 15 +NX_A6NH52 Golgi apparatus membrane protein TVP23 homolog A 213 24111 6.51 4 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the TVP23 family. NA PE2 16 +NX_A6NH57 Putative ADP-ribosylation factor-like protein 5C 179 20591 5.44 0 NA NA Binds and exchanges GTP and GDP. NA Belongs to the small GTPase superfamily. Arf family. NA PE2 17 +NX_A6NHA9 Olfactory receptor 4C46 309 34533 8.19 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_A6NHC0 Calpain-8 703 79144 5.1 0 Golgi apparatus;Cytoplasm;Nucleus membrane;Nucleoplasm;Cytoplasmic vesicle NA Calcium-regulated non-lysosomal thiol-protease. Involved in membrane trafficking in the gastric surface mucus cells (pit cells) and may involve the membrane trafficking of mucus cells via interactions with coat protein. Proteolytically cleaves the beta-subunit of coatomer complex (By similarity). Undergoes autolytic cleavage between Ala-5 and Ala-6 which gives rise to fragments extending from Ala-6 to the C-terminus, Ala-6 to the EF-hand 2 domain and from Ala-6 to the beginning of domain III. Belongs to the peptidase C2 family. Degradation of the extracellular matrix PE1 1 +NX_A6NHG4 D-dopachrome decarboxylase-like protein 134 14195 5.89 0 Cytoplasm NA May have lyase activity. NA Belongs to the MIF family. NA PE2 22 +NX_A6NHG9 Olfactory receptor 5H14 310 35099 8.72 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 3 +NX_A6NHJ4 Zinc finger protein 860 632 73757 9.46 0 Nucleoplasm;Nucleus;Nucleolus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 3 +NX_A6NHL2 Tubulin alpha chain-like 3 446 49909 5.68 0 Cytoskeleton NA Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear.;Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group. Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold. Belongs to the tubulin family. Phagosome;Gap junction;Pathogenic Escherichia coli infection;Separation of Sister Chromatids;MHC class II antigen presentation;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Formation of tubulin folding intermediates by CCT/TriC;Post-chaperonin tubulin folding pathway;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 10 +NX_A6NHM9 Putative DBH-like monooxygenase protein 2 499 56320 4.65 0 NA NA NA NA Belongs to the copper type II ascorbate-dependent monooxygenase family. NA PE5 7 +NX_A6NHN0 Otolin-1 477 49422 8.6 0 Extracellular matrix NA Collagen-like protein specifically expressed in the inner ear, which provides an organic scaffold for otoconia, a calcium carbonate structure in the saccule and utricle of the ear. Acts as a scaffold for biomineralization: sequesters calcium and forms interconnecting fibrils between otoconia that are incorporated into the calcium crystal structure. Together with OC90, modulates calcite crystal morphology and growth kinetics. NA Belongs to the OTOL1 family. NA PE2 3 +NX_A6NHN6 Nuclear pore complex-interacting protein family member B15 443 51267 10.5 0 Secreted NA NA NA Belongs to the NPIP family. NA PE1 16 +NX_A6NHP3 Speedy protein E2B 402 48290 9.78 0 NA NA NA NA Belongs to the Speedy/Ringo family. NA PE2 7 +NX_A6NHQ2 rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1 334 34803 10.35 0 Nucleolus NA S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins. Involved in pre-rRNA processing by catalyzing the site-specific 2'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Also acts as a protein methyltransferase by mediating methylation of glutamine residues (By similarity). By homology to other fibrillarins, some or all of the N-terminal domain arginines are modified to asymmetric dimethylarginine (DMA). Belongs to the methyltransferase superfamily. Fibrillarin family. NA PE1 5 +NX_A6NHQ4 Elongin BC and Polycomb repressive complex 2-associated protein 379 39322 9.77 0 Nucleoplasm;Cytosol;Nucleus;Chromosome NA Scaffold protein that serves as a bridging partner between the PRC2/EED-EZH2 complex and the elongin BC complex: required to fine-tune the transcriptional status of Polycomb group (PcG) target genes in embryonic stem cells (ESCs). Plays a key role in genomic regions that display both active and repressive chromatin properties in pluripotent stem cells by sustaining low level expression at PcG target genes: acts by recruiting the elongin BC complex, thereby restricting excessive activity of the PRC2/EED-EZH2 complex. Interaction with USP7 promotes deubiquitination of H2B at promoter sites. Acts as a regulator of neuronal differentiation. NA NA NA PE1 17 +NX_A6NHR8 Putative protein FAM47D 397 46757 9.11 0 NA NA NA NA Belongs to the FAM47 family. NA PE5 X +NX_A6NHR9 Structural maintenance of chromosomes flexible hinge domain-containing protein 1 2005 226374 6.95 0 Nucleoplasm;Nucleus;Chromosome Facioscapulohumeral muscular dystrophy 2;Bosma arhinia microphthalmia syndrome Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture (By similarity). Promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments (By similarity). Plays a key role in chromosome X inactivation in females by promoting the spreading of heterochromatin (PubMed:23542155). Recruited to inactivated chromosome X by Xist RNA and acts by mediating the merge of chromatin compartments: promotes random chromatin interactions that span the boundaries of existing structures, leading to create a compartment-less architecture typical of inactivated chromosome X (By similarity). Required to facilitate Xist RNA spreading (By similarity). Also required for silencing of a subset of clustered autosomal loci in somatic cells, such as the DUX4 locus (PubMed:23143600). Has ATPase activity; may participate in structural manipulation of chromatin in an ATP-dependent manner as part of its role in gene expression regulation (PubMed:29748383). Also plays a role in DNA repair: localizes to sites of DNA double-strand breaks in response to DNA damage to promote the repair of DNA double-strand breaks (PubMed:25294876, PubMed:24790221). Acts by promoting non-homologous end joining (NHEJ) and inhibiting homologous recombination (HR) repair (PubMed:25294876). Sumoylated with SUMO1. Belongs to the SMC family. Highly divergent. NA PE1 18 +NX_A6NHS1 Putative uncharacterized protein ENSP00000347057 94 10211 4.1 0 NA NA NA NA NA NA PE5 11 +NX_A6NHS7 MANSC domain-containing protein 4 340 37879 8.33 1 Membrane NA NA NA NA NA PE2 12 +NX_A6NHT5 Homeobox protein HMX3 357 37825 7.85 0 Nucleoplasm;Centriolar satellite;Nucleus NA Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development. Binds to the 5'-CAAGTG-3' core sequence. Controls semicircular canal formation in the inner ear. Also required for hypothalamic/pituitary axis of the CNS (By similarity). NA Belongs to the HMX homeobox family. NA PE1 10 +NX_A6NHX0 Cytosolic arginine sensor for mTORC1 subunit 2 329 36056 5.02 0 Cytosol NA Functions as a negative regulator of the TORC1 signaling pathway through the GATOR complex. As part of homodimers or heterodimers with CASTOR1, directly binds and inhibits the GATOR subcomplex GATOR2 and thereby mTORC1. Does not directly bind arginine, but binding of arginine to CASTOR1 disrupts the interaction of CASTOR2-containing heterodimers with GATOR2 which can in turn activate mTORC1 and the TORC1 signaling pathway. NA Belongs to the GATS family. NA PE1 7 +NX_A6NHY2 Ankyrin repeat and death domain-containing protein 1B 528 59088 8.33 0 NA NA NA NA NA NA PE2 5 +NX_A6NHY6 Putative uncharacterized protein C9orf118 69 7904 8.42 0 NA NA NA NA NA NA PE4 9 +NX_A6NHZ5 Leucine-rich repeat-containing protein 14B 514 56758 6.74 0 Nucleoplasm;Cytosol NA NA NA Belongs to the PRAME family. LRRC14 subfamily. NA PE1 5 +NX_A6NI03 Putative tripartite motif-containing protein 64B 449 51557 5.1 0 NA NA NA NA Belongs to the TRIM/RBCC family. NA PE5 11 +NX_A6NI15 Mesogenin-1 193 20778 9.03 0 Nucleus NA Involved in specifying the paraxial, but not dorsal, mesoderm. May regulate the expression of T-box transcription factors required for mesoderm formation and differentiation (By similarity). NA NA NA PE2 2 +NX_A6NI28 Rho GTPase-activating protein 42 874 98569 8.18 0 Cytosol;Nucleus speckle NA May influence blood pressure by functioning as a GTPase-activating protein for RHOA in vascular smooth muscle. NA NA Rho GTPase cycle PE1 11 +NX_A6NI47 Putative POTE ankyrin domain family member M 508 57067 6.64 0 NA NA NA NA Belongs to the POTE family. NA PE2 14 +NX_A6NI56 Coiled-coil domain-containing protein 154 667 75408 8.47 0 Golgi apparatus;Early endosome;Cell membrane NA NA NA NA NA PE1 16 +NX_A6NI61 Protein myomaker 221 24699 8.98 7 Cell membrane;Golgi apparatus membrane Carey-Fineman-Ziter syndrome Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers (PubMed:28681861). Actively participates in the membrane fusion reaction by mediating the mixing of cell membrane lipids (hemifusion) upstream of MYMX. Acts independently of MYMX (By similarity). Involved in skeletal muscle regeneration in response to injury by mediating the fusion of satellite cells, a population of muscle stem cells, with injured myofibers (By similarity). Also involved in skeletal muscle hypertrophy, probably by mediating the fusion of satellite cells with myofibers (By similarity). Palmitoylated at the C-terminus; palmitoylation promotes localization to the Golgi apparatus. Belongs to the TMEM8 family. NA PE1 9 +NX_A6NI72 Putative neutrophil cytosol factor 1B 391 44817 9.2 0 Cytoplasm NA May be required for activation of the latent NADPH oxidase (necessary for superoxide production). NA NA NA PE5 7 +NX_A6NI73 Leukocyte immunoglobulin-like receptor subfamily A member 5 299 32755 6.5 1 Secreted;Cell membrane NA May play a role in triggering innate immune responses. Does not seem to play a role for any class I MHC antigen recognition. NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_A6NI79 Coiled-coil domain-containing protein 69 296 34796 5.57 0 Golgi apparatus;Cell membrane;Spindle;Midbody;Cytoskeleton NA May act as a scaffold to regulate the recruitment and assembly of spindle midzone components. Required for the localization of AURKB and PLK1 to the spindle midzone. NA Belongs to the CCDC69 family. NA PE1 5 +NX_A6NI86 Golgin subfamily A member 6-like protein 10 522 60902 4.83 0 NA NA NA NA Belongs to the GOLGA6 family. NA PE2 15 +NX_A6NI87 Protein chibby homolog 3 242 27343 10.65 0 NA NA NA NA Belongs to the chibby family. NA PE1 5 +NX_A6NIE6 Putative RRN3-like protein RRN3P2 340 38035 5.02 0 NA NA NA NA Belongs to the RRN3 family. NA PE5 16 +NX_A6NIE9 Putative serine protease 29 313 34063 6.58 0 Secreted NA NA NA Belongs to the peptidase S1 family. NA PE5 16 +NX_A6NIH7 Protein unc-119 homolog B 251 28137 5.45 0 Mitochondrion;Cilium;Cytosol;Spindle;Cytoskeleton NA Myristoyl-binding protein that acts as a cargo adapter: specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated NPHP3 and plays a key role in localization of NPHP3 to the primary cilium membrane. Does not bind all myristoylated proteins. Probably plays a role in trafficking proteins in photoreceptor cells. NA Belongs to the PDE6D/unc-119 family. Trafficking of myristoylated proteins to the cilium PE1 12 +NX_A6NIJ5 Putative protein FAM90A20P 464 50026 9.93 0 NA NA NA NA Belongs to the FAM90 family. NA PE5 8 +NX_A6NIJ9 Olfactory receptor 6C70 312 35468 9.17 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 12 +NX_A6NIK2 Leucine-rich repeat-containing protein 10B 292 32714 6.88 0 Nucleoplasm;Nucleolus NA NA NA NA NA PE1 11 +NX_A6NIL9 Putative uncharacterized protein CRYM-AS1 109 12312 8.89 1 Membrane NA NA NA NA NA PE5 16 +NX_A6NIM6 Solute carrier family 15 member 5 579 65263 7.77 11 Membrane NA Proton oligopeptide cotransporter. NA Belongs to the PTR2/POT transporter (TC 2.A.17) family. NA PE1 12 +NX_A6NIN4 RING finger protein 227 190 21006 9.23 0 NA NA NA NA NA NA PE2 17 +NX_A6NIR3 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5 686 75492 6.28 0 NA NA Putative GTPase-activating protein. NA Belongs to the centaurin gamma-like family. NA PE2 10 +NX_A6NIU2 Putative uncharacterized protein encoded by LINC01549 74 8470 4.97 0 NA NA NA NA NA NA PE5 21 +NX_A6NIV6 Leucine-rich repeat and IQ domain-containing protein 4 560 63977 8.43 0 NA NA NA NA NA NA PE1 3 +NX_A6NIX2 Wilms tumor protein 1-interacting protein 430 45124 8.53 0 P-body;Nucleus;Adherens junction NA Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organization, repression of gene transcription, cell-cell adhesion, cell differentiation, proliferation and migration. Positively regulates microRNA (miRNA)-mediated gene silencing. Negatively regulates Hippo signaling pathway and antagonizes phosphorylation of YAP1. Acts as a transcriptional corepressor for SNAI1 and SNAI2/SLUG-dependent repression of E-cadherin transcription. Acts as a hypoxic regulator by bridging an association between the prolyl hydroxylases and VHL enabling efficient degradation of HIF1A. In podocytes, may play a role in the regulation of actin dynamics and/or foot process cytoarchitecture (By similarity). In the course of podocyte injury, shuttles into the nucleus and acts as a transcription regulator that represses WT1-dependent transcription regulation, thereby translating changes in slit diaphragm structure into altered gene expression and a less differentiated phenotype. Involved in the organization of the basal body (By similarity). Involved in cilia growth and positioning (By similarity). NA Belongs to the zyxin/ajuba family. Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha PE1 19 +NX_A6NIY4 Speedy protein E5 402 47997 9.98 0 NA NA NA NA Belongs to the Speedy/Ringo family. NA PE2 7 +NX_A6NIZ1 Ras-related protein Rap-1b-like protein 184 20925 5.37 0 Cytosol;Cell membrane NA NA NA Belongs to the small GTPase superfamily. Ras family. NA PE2 5 +NX_A6NJ08 Putative methyl-CpG-binding domain protein 3-like 5 208 22976 11.47 0 NA NA NA NA Belongs to the MBD3L family. NA PE5 19 +NX_A6NJ46 Homeobox protein Nkx-6.3 265 28948 9.3 0 Nucleus NA Putative transcription factor, which may be involved in patterning of central nervous system and pancreas. NA NA NA PE2 8 +NX_A6NJ64 Putative nuclear pore complex-interacting protein family member B2 397 45575 9.95 0 Nucleus NA NA NA Belongs to the NPIP family. NA PE5 16 +NX_A6NJ69 IgA-inducing protein homolog 53 5937 9.13 0 Cytoplasmic vesicle;Secreted NA Enhances IgA secretion from B-cells stimulated via CD40. NA NA NA PE2 5 +NX_A6NJ78 Probable methyltransferase-like protein 15 407 46121 8.8 0 Golgi apparatus;Cytoskeleton;Cell membrane NA Probable S-adenosyl-L-methionine-dependent methyltransferase. NA Belongs to the methyltransferase superfamily. RsmH family. NA PE1 11 +NX_A6NJ88 Putative SAGE1-like protein 616 69022 5.68 0 NA NA NA NA NA NA PE5 X +NX_A6NJB7 Proline-rich protein 19 356 38716 10.48 0 Nucleoplasm;Nucleolus;Mitochondrion;Nucleus NA NA NA NA NA PE1 19 +NX_A6NJG2 Ankyrin repeat domain-containing protein SOWAHD 315 33803 9.62 0 NA NA NA NA Belongs to the SOWAH family. NA PE1 X +NX_A6NJG6 Arginine-fifty homeobox 315 35617 6.84 0 Nucleus NA Putative transcription factor. NA Belongs to the paired homeobox family. NA PE2 3 +NX_A6NJI1 Uncharacterized protein C11orf86 115 13172 11.47 0 NA NA NA NA NA NA PE2 11 +NX_A6NJI9 Leucine-rich repeat-containing protein 72 287 33656 8.92 0 NA NA NA NA NA NA PE1 7 +NX_A6NJJ6 UPF0575 protein C19orf67 358 39779 4.78 0 NA NA NA NA Belongs to the UPF0575 family. NA PE2 19 +NX_A6NJL1 Zinc finger and SCAN domain-containing protein 5B 495 55826 8.88 0 Nucleus NA May be involved in transcriptional regulation. NA NA NA PE2 19 +NX_A6NJQ4 Putative protein FAM90A8P 464 49661 9.91 0 NA NA NA NA Belongs to the FAM90 family. NA PE5 8 +NX_A6NJR5 Putative speedy protein-like protein 3 290 34699 5.99 0 NA NA NA NA Belongs to the Speedy/Ringo family. NA PE5 7 +NX_A6NJT0 Homeobox protein unc-4 homolog 531 53690 6.74 0 Nucleoplasm;Nucleus NA Transcription factor involved in somitogenesis and neurogenesis. Required for the maintenance and differentiation of particular elements of the axial skeleton. May act upstream of PAX9. Plays a role in controlling the development of connections of hypothalamic neurons to pituitary elements, allowing central neurons to reach the peripheral blood circulation and to deliver hormones for control of peripheral functions (By similarity). NA Belongs to the paired homeobox family. Unc-4 subfamily. NA PE1 7 +NX_A6NJU9 Nuclear pore complex-interacting protein family member B13 1138 125964 9.9 1 Membrane NA NA NA Belongs to the NPIP family. NA PE2 16 +NX_A6NJV1 Protein FAM166C 201 23421 10 0 Cytoplasmic vesicle;Nucleus membrane NA NA NA Belongs to the FAM166C family. NA PE1 2 +NX_A6NJW4 Leucine-rich repeat-containing protein 3C 275 29314 6.15 1 Membrane NA NA NA Belongs to the LRRC3 family. NA PE2 17 +NX_A6NJW9 T-cell surface glycoprotein CD8 beta-2 chain 210 23703 9.88 1 Cell membrane NA Identifies cytotoxic/suppressor T-cells that interact with MHC class I bearing targets. CD8 is thought to play a role in the process of T-cell mediated killing (By similarity). NA NA NA PE2 2 +NX_A6NJY1 Putative SLC9B1-like protein SLC9B1P1 282 30828 7.66 7 Membrane NA NA NA Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. NA PE5 Y +NX_A6NJY4 Putative transmembrane protein LOC100289255 79 8713 4.43 2 Membrane NA NA NA NA NA PE5 17 +NX_A6NJZ3 Olfactory receptor 6C65 312 35198 8.87 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 12 +NX_A6NJZ7 RIMS-binding protein 3C 1639 180950 6.34 0 Cytoskeleton NA Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development. NA Belongs to the RIMBP family. NA PE1 22 +NX_A6NK02 Putative tripartite motif-containing protein 75 468 53678 7.79 0 NA NA NA NA Belongs to the TRIM/RBCC family. NA PE5 4 +NX_A6NK06 Cis-aconitate decarboxylase 481 52628 7.01 0 Mitochondrion NA Involved in the inhibition of the inflammatory response. Acts as a negative regulator of the Toll-like receptors (TLRs)-mediated inflammatory innate response by stimulating the tumor necrosis factor alpha-induced protein TNFAIP3 expression via reactive oxygen species (ROS) in LPS-tolerized macrophages. Involved in antimicrobial response of innate immune cells; ACOD1-mediated itaconic acid production contributes to the antimicrobial activity of macrophages. Plays a role in the embryo implantation. NA Belongs to the PrpD family. NA PE1 13 +NX_A6NK44 Glyoxalase domain-containing protein 5 160 18322 7.7 0 Mitochondrion NA NA NA Belongs to the glyoxalase I family. NA PE1 X +NX_A6NK53 Zinc finger protein 233 670 76861 8.61 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 19 +NX_A6NK58 Putative lipoyltransferase 2, mitochondrial 231 25195 8.63 0 Cytoplasmic vesicle;Mitochondrion;Centrosome Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities Catalyzes the transfer of endogenously produced octanoic acid from octanoyl-acyl-carrier-protein onto the lipoyl domains of lipoate-dependent enzymes, which catalyze essential redox reactions (PubMed:28757203). Lipoyl-ACP can also act as a substrate although octanoyl-ACP is likely to be the physiological substrate (By similarity). NA Belongs to the LipB family. Protein modification; protein lipoylation via endogenous pathway; protein N(6)-(lipoyl)lysine from octanoyl-[acyl-carrier-protein]: step 1/2.;Lipoic acid metabolism;Metabolic pathways;Glyoxylate metabolism and glycine degradation PE1 11 +NX_A6NK59 Ankyrin repeat and SOCS box protein 14 587 65331 6.24 0 NA NA May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE2 3 +NX_A6NK75 Zinc finger protein 98 572 65799 9.33 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE2 19 +NX_A6NK89 Ras association domain-containing protein 10 507 56900 5.29 0 Spindle pole;Cytoplasmic vesicle;Cytosol;Centrosome NA Plays an important role in regulating embryonic neurogenesis. NA NA NA PE1 11 +NX_A6NK97 Solute carrier family 22 member 20 555 60459 8.63 11 Membrane NA Organic anion transporter that mediates the uptake of estrone sulfate. Inhibited by probenecid, propionate, 2-methylbutyrate, 3-methylbutyrate, benzoate, heptanoate and 2-ethylhaxanoate. May act as an odorant transporter (By similarity). NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. NA PE2 11 +NX_A6NKB5 Pecanex-like protein 2 2137 237277 6.29 15 Membrane;Endoplasmic reticulum NA May play a role in tumorigenesis of colorectal carcinomas with high microsatellite instability (MSI-H). NA Belongs to the pecanex family. NA PE1 1 +NX_A6NKC0 Putative protein FAM90A7P 464 49804 9.88 0 NA NA NA NA Belongs to the FAM90 family. NA PE5 8 +NX_A6NKC9 SH2 domain-containing protein 7 451 49807 5.99 0 NA NA NA NA NA NA PE2 15 +NX_A6NKD2 Testis-specific Y-encoded protein 2 308 35100 5.3 0 NA NA NA NA Belongs to the nucleosome assembly protein (NAP) family. NA PE2 Y +NX_A6NKD9 Coiled-coil domain-containing protein 85C 419 45210 6.48 0 Tight junction;Adherens junction;Nucleus speckle;Cell junction NA May play a role in cell-cell adhesion and epithelium development through its interaction with proteins of the beta-catenin family (Probable). May play an important role in cortical development, especially in the maintenance of radial glia (By similarity). NA Belongs to the CCDC85 family. NA PE1 14 +NX_A6NKF1 SAC3 domain-containing protein 1 404 43553 9.04 0 Cytosol;Spindle;Centrosome NA Involved in centrosome duplication and mitotic progression. NA Belongs to the SAC3 family. NA PE1 11 +NX_A6NKF2 AT-rich interactive domain-containing protein 3C 412 44073 5.34 0 Nucleus NA NA NA NA NA PE1 9 +NX_A6NKF7 Transmembrane protein 88B 163 17097 8.53 2 Membrane NA NA NA Belongs to the TMEM88 family. NA PE1 1 +NX_A6NKG5 Retrotransposon-like protein 1 1358 155048 5.09 2 Membrane;Cytosol NA Plays an essential role in capillaries endothelial cells for the maintenance of feto-maternal interface and for development of the placenta. NA NA NA PE1 14 +NX_A6NKH3 Putative 60S ribosomal protein L37a-like protein 93 10583 10.22 0 NA NA NA NA Belongs to the eukaryotic ribosomal protein eL43 family. NA PE5 11 +NX_A6NKK0 Olfactory receptor 5H1 313 35387 8.8 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 3 +NX_A6NKL6 Transmembrane protein 200C 621 63928 10.1 2 Membrane;Cytoskeleton NA NA NA Belongs to the TMEM200 family. NA PE1 18 +NX_A6NKN8 Purkinje cell protein 4-like protein 1 68 7476 6.28 0 Nucleoplasm;Mitochondrion NA NA NA Belongs to the PCP4 family. NA PE1 1 +NX_A6NKP2 Putative short-chain dehydrogenase/reductase family 42E member 2 422 46869 9.66 0 NA NA NA NA Belongs to the 3-beta-HSD family. NA PE2 16 +NX_A6NKQ9 Choriogonadotropin subunit beta variant 1 187 20468 9.02 0 Secreted NA NA NA Belongs to the glycoprotein hormones subunit beta family. NA PE2 19 +NX_A6NKT7 RanBP2-like and GRIP domain-containing protein 3 1758 197487 5.95 0 NA NA NA NA NA NA PE1 2 +NX_A6NKU9 Speedy protein E3 549 63895 6.06 0 NA NA NA NA Belongs to the Speedy/Ringo family. NA PE2 7 +NX_A6NKW6 Protein shisa-like-2B 160 17663 5.88 1 Membrane NA NA NA Belongs to the shisa family. NA PE2 5 +NX_A6NKX1 Protein FAM223B 122 13778 10.05 0 NA NA NA NA Belongs to the FAM223 family. NA PE3 X +NX_A6NKX4 Putative solute carrier family 22 member 31 556 58815 9.89 12 Membrane NA Organic anion transporter that mediates the uptake of ions. NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. NA PE1 16 +NX_A6NL05 Protein FAM74A7 159 18299 9.63 1 Membrane NA NA NA Belongs to the FAM74 family. NA PE3 9 +NX_A6NL08 Olfactory receptor 6C75 312 35372 9.29 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 12 +NX_A6NL26 Olfactory receptor 5B21 309 34174 6.73 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_A6NL46 Putative UPF0607 protein ENSP00000332738 340 37797 10.95 0 NA NA NA NA Belongs to the UPF0607 family. NA PE3 6 +NX_A6NL82 Protein FAM183A 134 15996 8.67 0 NA NA NA NA Belongs to the FAM183 family. NA PE1 1 +NX_A6NL88 Protein shisa-7 538 56214 10.06 1 Cytosol;Postsynaptic density membrane NA Regulator of long-term synaptic potentiation specifically involved in the formation and retrieval of hippocampus-dependent contextual fear memory. Probably regulates induction and maintenance of long-term potentiation at Schaffer collaterals/CA3-CA1 excitatory synapses by affecting the recruitment of AMPA-type glutamate receptor (AMPAR) at postsynaptic density. NA Belongs to the shisa family. NA PE1 19 +NX_A6NL99 Putative aquaporin-7-like protein 3 342 37357 7.83 8 Membrane NA NA NA Belongs to the MIP/aquaporin (TC 1.A.8) family. NA PE5 9 +NX_A6NLC5 UPF0524 protein C3orf70 250 27769 4.85 0 Cytosol NA NA NA Belongs to the UPF0524 family. NA PE1 3 +NX_A6NLC8 Putative TAF11-like protein ENSP00000332601 198 21962 5.72 0 NA NA NA NA Belongs to the TAF11 family. NA PE1 5 +NX_A6NLE4 Small integral membrane protein 23 172 20025 4.76 1 Cell membrane NA NA NA NA NA PE2 5 +NX_A6NLF2 Elongin-A3 member D 546 59772 9.86 0 Nucleus NA SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex). NA NA Formation of RNA Pol II elongation complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;TP53 Regulates Transcription of DNA Repair Genes PE3 18 +NX_A6NLI5 Tripartite motif-containing protein 64C 450 51540 5.3 0 NA NA NA NA Belongs to the TRIM/RBCC family. NA PE2 11 +NX_A6NLJ0 C2 calcium-dependent domain-containing protein 4B 364 38769 11.07 0 Nucleus NA May be involved in inflammatory process. May regulate cell architecture and adhesion. NA Belongs to the C2CD4 family. NA PE1 15 +NX_A6NLP5 Tetratricopeptide repeat protein 36 189 20896 5.02 0 Nucleoplasm NA NA NA Belongs to the TTC36 family. NA PE1 11 +NX_A6NLU0 Ret finger protein-like 4A 287 32238 7.89 0 Cytoplasm;Nucleus NA NA NA NA NA PE1 19 +NX_A6NLU5 V-set and transmembrane domain-containing protein 2B 285 30297 7.88 1 Membrane NA NA NA NA NA PE1 19 +NX_A6NLW8 Double homeobox protein A 204 23817 9.51 0 Nucleus NA Putative transcription factor. NA Belongs to the paired homeobox family. NA PE2 19 +NX_A6NLX3 Speedy protein E4 237 27806 4.93 0 NA NA NA NA Belongs to the Speedy/Ringo family. NA PE2 17 +NX_A6NLX4 Transmembrane protein 210 147 15516 4.19 1 Membrane NA NA NA NA NA PE1 9 +NX_A6NM03 Olfactory receptor 2AG2 316 35270 8.79 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_A6NM10 Aquaporin-12B 295 31475 8.18 6 Membrane NA Aquaporins facilitate the transport of water and small neutral solutes across cell membranes. NA Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily. NA PE1 2 +NX_A6NM11 Leucine-rich repeat-containing protein 37A2 1700 188393 5.33 1 Membrane NA NA NA Belongs to the LRRC37A family. NA PE1 17 +NX_A6NM28 Zinc finger protein 92 homolog 416 45791 10.23 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 X +NX_A6NM36 Leucine-rich repeat-containing protein 30 301 34034 9.48 0 NA NA NA NA NA NA PE2 18 +NX_A6NM43 Putative T-complex protein 1 subunit theta-like 1 557 59514 5.91 0 Cytoplasm NA Possible molecular chaperone; assists the folding of proteins upon ATP hydrolysis. NA Belongs to the TCP-1 chaperonin family. NA PE5 7 +NX_A6NM45 Putative claudin-24 220 24421 4.87 4 Tight junction;Cell membrane NA Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. NA Belongs to the claudin family. NA PE5 4 +NX_A6NM62 Leucine-rich repeat-containing protein 53 1247 140742 8.11 1 Membrane NA NA NA NA NA PE2 1 +NX_A6NM66 Uncharacterized protein encoded by LINC01548 108 11668 8.23 0 NA NA NA NA NA NA PE4 21 +NX_A6NM76 Olfactory receptor 6C76 312 35119 9.04 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 12 +NX_A6NMA1 Putative uncharacterized protein TRPC5OS 111 12326 3.47 0 NA NA NA NA NA NA PE1 X +NX_A6NMB1 Sialic acid-binding Ig-like lectin 16 481 52992 9.28 1 Membrane NA Putative adhesion molecule that mediates sialic-acid dependent binding to cells. NA Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. DAP12 interactions PE2 19 +NX_A6NMB9 Putative fidgetin-like protein 2 653 66603 6.3 0 NA NA NA NA Belongs to the AAA ATPase family. NA PE5 12 +NX_A6NMD0 Interferon-induced transmembrane protein 10 228 24599 6.59 2 Cell membrane NA NA NA Belongs to the CD225/Dispanin family. NA PE1 11 +NX_A6NMD2 Golgin subfamily A member 8J 632 71775 8.5 0 NA NA NA NA Belongs to the GOLGA8 family. NA PE2 15 +NX_A6NMK7 Putative cleavage and polyadenylation specificity factor subunit 4-like protein 179 20727 8.93 0 NA NA NA NA Belongs to the CPSF4/YTH1 family. NA PE2 17 +NX_A6NMK8 Protein INSYN2B 535 59204 8.39 0 NA NA NA NA Belongs to the INSYN2 family. NA PE1 5 +NX_A6NML5 Transmembrane protein 212 194 21425 8.15 5 Membrane;Endoplasmic reticulum;Nucleolus NA NA NA NA NA PE2 3 +NX_A6NMN3 Protein FAM170B 283 32092 4.67 0 Acrosome outer membrane;Acrosome NA Plays a role in fertilization through the acrosome reaction. NA Belongs to the FAM170 family. NA PE1 10 +NX_A6NMS3 Olfactory receptor 5K4 321 36711 8.44 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 3 +NX_A6NMS7 Leucine-rich repeat-containing protein 37A 1700 188258 5.32 1 Membrane NA NA NA Belongs to the LRRC37A family. NA PE1 17 +NX_A6NMT0 Homeobox protein DBX1 343 37283 9.54 0 Nucleus NA Could have a role in patterning the central nervous system during embryogenesis. Has a key role in regulating the distinct phenotypic features that distinguish two major classes of ventral interneurons, V0 and V1 neurons. Regulates the transcription factor profile, neurotransmitter phenotype, intraspinal migratory path and axonal trajectory of V0 neurons, features that differentiate them from an adjacent set of V1 neurons (By similarity). NA Belongs to the H2.0 homeobox family. NA PE1 11 +NX_A6NMU1 Olfactory receptor 52A4 304 34901 8.28 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 11 +NX_A6NMX2 Eukaryotic translation initiation factor 4E type 1B 242 27596 6.68 0 NA NA Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis and facilitates ribosome binding by inducing the unwinding of the mRNAs secondary structure. NA Belongs to the eukaryotic initiation factor 4E family. RNA transport;mTOR signaling pathway;Insulin signaling pathway PE1 5 +NX_A6NMY6 Putative annexin A2-like protein 339 38659 6.49 0 Basement membrane;Melanosome NA Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids. It binds two calcium ions with high affinity. May be involved in heat-stress response. NA Belongs to the annexin family. NA PE5 9 +NX_A6NMZ2 Sentan 147 16468 8.43 0 Cilium NA May be a component of the linker structure that bridges the ciliary membrane and peripheral singlet microtubules. NA Belongs to the S-100 family. NA PE1 3 +NX_A6NMZ5 Olfactory receptor 4C45 311 35341 7.99 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 11 +NX_A6NMZ7 Collagen alpha-6(VI) chain 2263 247173 6.44 0 Extracellular matrix NA Collagen VI acts as a cell-binding protein. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Belongs to the type VI collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Collagen chain trimerization PE1 3 +NX_A6NN06 Putative UPF0633 protein MGC21881 94 10596 11.9 0 NA NA NA NA Belongs to the UPF0633 family. NA PE5 9 +NX_A6NN14 Zinc finger protein 729 1252 145022 9.58 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 19 +NX_A6NN73 Golgin subfamily A member 8C 597 67128 8.72 0 NA NA NA NA Belongs to the GOLGA8 family. NA PE3 15 +NX_A6NN90 Uncharacterized protein C2orf81 582 63239 5.44 0 Nucleoplasm;Nucleolus NA NA NA NA NA PE1 2 +NX_A6NN92 Putative gap junction epsilon-1 protein 205 23755 8.68 4 Cell membrane NA Mediates calcium-independent ATP release, suggesting activity as a hemichannel. Does not form functional gap junctions. NA Belongs to the connexin family. Beta-type (group I) subfamily. NA PE5 6 +NX_A6NNA2 Serine/arginine repetitive matrix protein 3 597 65249 11.68 0 Cytoskeleton;Cell membrane NA May play a role in regulating breast cancer cell invasiveness (PubMed:26053433). May be involved in RYBP-mediated breast cancer progression (PubMed:27748911). NA Belongs to the CWC21 family. NA PE1 7 +NX_A6NNA5 Dorsal root ganglia homeobox protein 263 28672 8.74 0 Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Transcription factor required for the formation of correct projections from nociceptive sensory neurons to the dorsal horn of the spinal cord and normal perception of pain. NA Belongs to the paired homeobox family. NA PE2 10 +NX_A6NNB3 Interferon-induced transmembrane protein 5 132 14378 8.48 2 Cell membrane Osteogenesis imperfecta 5 Required for normal bone mineralization. Palmitoylated. Belongs to the CD225/Dispanin family. NA PE1 11 +NX_A6NNC1 Putative POM121-like protein 1-like 897 94058 10.28 1 Membrane NA NA NA Belongs to the POM121 family. NA PE5 5 +NX_A6NND4 Olfactory receptor 2AT4 320 35503 6.21 7 Cell membrane NA Olfactory receptor (PubMed:24999593, PubMed:30228264). Activated by the synthetic sandalwood odorant sandalore (PubMed:24999593, PubMed:30228264). Endogenous ligand is unknown (Probable). The activity of this receptor is propably mediated by G proteins which induce elevation of intracellular Ca(2+), a cAMP-dependent pathway and phosphorylation of MAPK1/ERK2, MAPK3/ERK1 and p38 MAPKs (PubMed:24999593, PubMed:30228264). Activation of OR2AT4 induces proliferation, migration, and re-epithelialization during wound-healing processes of keratinocytes (PubMed:24999593). Stimulation of OR2AT4 by sandalore promotes hair growth by decreasing apoptosis and increasing production of the anagen-prolonging growth factor IGF1 as well as other pathways involving various kinases (PubMed:30228264). NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE1 11 +NX_A6NNE9 E3 ubiquitin-protein ligase MARCH11 402 43878 6.47 2 Cytoplasmic vesicle membrane NA E3 ubiquitin-protein ligase that mediates polyubiquitination of CD4. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May play a role in ubuquitin-dependent protein sorting in developmenting spermatids. NA NA Protein modification; protein ubiquitination. PE1 5 +NX_A6NNF4 Zinc finger protein 726 738 85539 9.27 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_A6NNH2 Protein FAM90A27P 459 49646 9.97 0 NA NA NA NA Belongs to the FAM90 family. NA PE1 19 +NX_A6NNJ1 Putative protein FAM90A9P 464 49738 9.91 0 NA NA NA NA Belongs to the FAM90 family. NA PE5 8 +NX_A6NNL0 NUT family member 2B 878 93984 8.12 0 NA NA NA NA Belongs to the NUT family. NA PE2 10 +NX_A6NNL5 Uncharacterized protein C15orf61 157 18091 9.9 0 Cytoplasmic vesicle;Cytosol;Secreted;Nucleolus NA NA NA NA NA PE1 15 +NX_A6NNM3 RIMS-binding protein 3B 1639 180952 6.34 0 Cytoskeleton NA Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development. NA Belongs to the RIMBP family. NA PE1 22 +NX_A6NNM8 Tubulin polyglutamylase TTLL13P 815 93645 9.12 0 NA NA Polyglutamylase which preferentially modifies alpha-tubulin. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step (By similarity). NA Belongs to the tubulin--tyrosine ligase family. Carboxyterminal post-translational modifications of tubulin PE1 15 +NX_A6NNN8 Putative sodium-coupled neutral amino acid transporter 8 435 46731 7.42 11 Membrane Foveal hypoplasia 2 Putative sodium-dependent amino acid/proton antiporter. NA Belongs to the amino acid/polyamine transporter 2 family. NA PE1 16 +NX_A6NNP5 Coiled-coil domain-containing protein 169 214 25253 9.33 0 NA NA NA NA Belongs to the CCDC169 family. NA PE2 13 +NX_A6NNS2 Dehydrogenase/reductase SDR family member 7C 312 34878 8.72 0 Secreted NA Putative oxidoreductase. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. NA PE1 17 +NX_A6NNT2 Uncharacterized protein C16orf96 1141 125041 6.58 0 NA NA NA NA NA NA PE1 16 +NX_A6NNV3 Putative speedy protein E16 312 37499 8.38 0 NA NA NA NA Belongs to the Speedy/Ringo family. NA PE5 7 +NX_A6NNW6 Enolase 4 625 68465 5.64 0 Nucleoplasm;Mitochondrion NA May be required for sperm motility and function. NA Belongs to the enolase family. Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 4/5. PE1 10 +NX_A6NNX1 RIIa domain-containing protein 1 92 10810 9.57 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 1 +NX_A6NNY8 Ubiquitin carboxyl-terminal hydrolase 27 438 49630 6.75 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasmic vesicle Mental retardation, X-linked 105 Deubiquitinase that can reduce the levels of BCL2L11/BIM ubiquitination and stabilize BCL2L11 in response to the RAF-MAPK-degradation signal. By acting on BCL2L11 levels, may counteract the anti-apoptotic effects of MAPK activity. NA Belongs to the peptidase C19 family. NA PE1 X +NX_A6NNZ2 Tubulin beta 8B 444 49573 4.75 0 Cytoskeleton NA Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).;Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.;Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866). Belongs to the tubulin family. Separation of Sister Chromatids;MHC class II antigen presentation;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 18 +NX_A6NP11 Zinc finger protein 716 495 57006 9.34 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 7 +NX_A6NP61 ZAR1-like protein 321 36010 9.27 0 NA NA NA NA Belongs to the ZAR1 family. NA PE1 13 +NX_A6PVC2 Protein monoglycylase TTLL8 850 94676 8.55 0 Cilium;Cilium axoneme;Cytoskeleton NA Monoglycylase which modifies both tubulin and non-tubulin proteins, generating side chains of glycine on the gamma-carboxyl groups of specific glutamate residues of target proteins. Monoglycylates tubulin, with a preference for alpha-tubulin toward beta-tubulin. Has the ability to modify non-tubulin proteins such as ANP32A, ANP32B, SET and NCL. Involved in the side-chain initiation step of the glycylation reaction by adding a single glycine chain to generate monoglycine side chains. Not involved in elongation step of the polyglycylation reaction (By similarity). NA NA Carboxyterminal post-translational modifications of tubulin PE2 22 +NX_A6PVI3 Nuclear cap-binding protein subunit 2-like 153 17685 6.89 0 NA NA NA NA Belongs to the RRM NCBP2 family. NA PE2 X +NX_A6PVL3 Kinocilin 124 12832 9.51 2 Membrane NA May play a role in stabilizing dense microtubular networks or in vesicular trafficking. NA NA NA PE2 1 +NX_A6PVS8 Leucine-rich repeat and IQ domain-containing protein 3 624 73675 9.73 0 Nucleoplasm;Cell membrane NA NA NA NA NA PE1 1 +NX_A6PVY3 Protein FAM177B 158 18145 4.84 0 NA NA NA NA Belongs to the FAM177 family. NA PE2 1 +NX_A6QL63 Ankyrin repeat and BTB/POZ domain-containing protein BTBD11 1104 120884 6.36 1 Membrane;Nucleoplasm;Cytosol NA NA NA NA NA PE1 12 +NX_A6QL64 Ankyrin repeat domain-containing protein 36A 1941 217465 8.84 0 NA NA NA NA Belongs to the ANKRD36 family. NA PE1 2 +NX_A6XGL0 YjeF N-terminal domain-containing protein 3 299 32585 5.75 0 Mitochondrion NA May play a role in spermiogenesis and oogenesis. NA NA NA PE1 19 +NX_A6ZKI3 Retrotransposon Gag-like protein 8C 113 13171 4.94 0 NA NA NA NA Belongs to the FAM127 family. NA PE1 X +NX_A7E2F4 Golgin subfamily A member 8A 631 70117 5.89 0 Golgi stack membrane NA May be involved in maintaining Golgi structure. NA Belongs to the GOLGA8 family. NA PE2 15 +NX_A7E2S9 Putative ankyrin repeat domain-containing protein 30B-like 258 28549 7.05 0 NA NA NA NA NA NA PE1 2 +NX_A7E2U8 UPF0602 protein C4orf47 309 34376 9.64 0 Cytoplasmic vesicle;Centrosome NA NA NA Belongs to the UPF0602 family. NA PE1 4 +NX_A7E2V4 Zinc finger SWIM domain-containing protein 8 1837 197297 6.35 0 Cytosol;Cell membrane NA NA NA NA Regulation of expression of SLITs and ROBOs PE1 10 +NX_A7E2Y1 Myosin-7B 1983 225845 5.81 0 Membrane NA Involved in muscle contraction. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Tight junction;Viral myocarditis PE1 20 +NX_A7KAX9 Rho GTPase-activating protein 32 2087 230529 6.27 0 Golgi apparatus;Dendritic spine;Cell cortex;Endoplasmic reticulum membrane;Endosome membrane;Nucleolus;Membrane;Nucleoplasm;Postsynaptic density;Golgi apparatus membrane NA Has higher GAP activity (By similarity).;GTPase-activating protein (GAP) promoting GTP hydrolysis on RHOA, CDC42 and RAC1 small GTPases. May be involved in the differentiation of neuronal cells during the formation of neurite extensions. Involved in NMDA receptor activity-dependent actin reorganization in dendritic spines. May mediate cross-talks between Ras- and Rho-regulated signaling pathways in cell growth regulation. Is phosphorylated on multiple tyrosine residues by FYN. Phosphorylated tyrosine residues undergo dephosphorylation after stimulation of NMDA receptors (By similarity). Phosphorylated in vitro by CaMK2 in the presence of calmodulin and calcium; which inhibits GAP activity (By similarity).;ARHGAP32 is phosphorylated by NTRK1;ARHGAP32 is phosphorylated by FYN Belongs to the PX domain-containing GAP family. Rho GTPase cycle PE1 11 +NX_A7MBM2 Protein dispatched homolog 2 1401 152003 8.18 12 Membrane;Cytoplasmic vesicle;Nucleoplasm NA NA NA Belongs to the dispatched family. Release of Hh-Np from the secreting cell PE1 15 +NX_A7MCY6 TANK-binding kinase 1-binding protein 1 615 67702 5.62 0 Nucleoplasm NA Adapter protein which constitutively binds TBK1 and IKBKE playing a role in antiviral innate immunity. NA NA RIG-I-like receptor signaling pathway PE1 17 +NX_A7MD48 Serine/arginine repetitive matrix protein 4 611 68559 11.75 0 Nucleus NA Splicing factor specifically required for neural cell differentiation. Acts in conjunction with nPTB/PTBP2 by binding directly to its regulated target transcripts and promotes neural-specific exon inclusion in many genes that function in neural cell differentiation. Required to promote the inclusion of neural-specific exon 10 in nPTB/PTBP2, leading to increased expression of neural-specific nPTB/PTBP2. Also promotes the inclusion of exon 16 in DAAM1 in neuron extracts (By similarity). Promotes alternative splicing of REST transcripts to produce REST isoform 3 (REST4) with greatly reduced repressive activity, thereby activating expression of REST targets in neural cells (PubMed:30684677). Plays an important role during embryonic development as well as in the proper functioning of the adult nervous system. Regulates alternative splicing events in genes with important neuronal functions (By similarity). Phosphorylated. Belongs to the nSR100 family. NA PE1 12 +NX_A7XYQ1 Sine oculis-binding protein homolog 873 92658 7.77 0 Nucleoplasm;Cytoplasmic vesicle Mental retardation, anterior maxillary protrusion, and strabismus Implicated in development of the cochlea. NA Belongs to the SOBP family. NA PE1 6 +NX_A8CG34 Nuclear envelope pore membrane protein POM 121C 1229 125092 10.38 1 Endoplasmic reticulum membrane;Nucleus membrane;Nuclear pore complex NA Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL). NA Belongs to the POM121 family. RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 7 +NX_A8K010 Putative transcriptional regulator encoded by LINC00473 186 21118 10.18 0 NA NA May play a role in cAMP-mediated gene transcription. NA NA NA PE5 6 +NX_A8K0R7 Zinc finger protein 839 811 87484 6.11 0 Cytoplasm;Nucleoplasm;Cell membrane NA NA NA NA Generic Transcription Pathway PE1 14 +NX_A8K0S8 Putative homeobox protein Meis3-like 2 358 39220 4.89 0 Nucleus NA NA NA Belongs to the TALE/MEIS homeobox family. NA PE2 17 +NX_A8K0Z3 WASH complex subunit 1 465 50328 5.49 0 Centriole;Autophagosome;Recycling endosome membrane;Late endosome;Early endosome membrane NA Acts as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922874, PubMed:19922875, PubMed:20498093, PubMed:23452853). Its assembly in the WASH core complex seems to inhibit its NPF activity and via WASHC2 is required for its membrane targeting (PubMed:20498093). Involved in endocytic trafficking of EGF (By similarity). Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma membrane and involved in invasive cell migration (PubMed:22114305). In T-cells involved in endosome-to-membrane recycling of receptors including T-cell receptor (TCR), CD28 and ITGAL; proposed to be implicated in T cell proliferation and effector function. In dendritic cells involved in endosome-to-membrane recycling of major histocompatibility complex (MHC) class II probably involving retromer and subsequently allowing antigen sampling, loading and presentation during T-cell activation (By similarity). Involved in Arp2/3 complex-dependent actin assembly driving Salmonella typhimurium invasion independent of ruffling. Involved in the exocytosis of MMP14 leading to matrix remodeling during invasive migration and implicating late endosome-to-plasma membrane tubular connections and cooperation with the exocyst complex (PubMed:24344185). Involved in negative regulation of autophagy independently from its role in endosomal sorting by inhibiting BECN1 ubiquitination to inactivate PIK3C3/Vps34 activity (By similarity). Ubiquitinated at Lys-220 via 'Lys-63'-linked ubiquitin chains by the TRIM27:MAGEL2 E3 ubiquitin ligase complex, leading to promote endosomal F-actin assembly. Belongs to the WASH1 family. NA PE1 9 +NX_A8K2U0 Alpha-2-macroglobulin-like protein 1 1454 161107 5.5 0 Secreted Otitis media Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase (By similarity). Displays inhibitory activity against chymotrypsin, papain, thermolysin, subtilisin A and, to a lesser extent, elastase but not trypsin. May play an important role during desquamation by inhibiting extracellular proteases. NA Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family. NA PE1 12 +NX_A8K4G0 CMRF35-like molecule 7 201 22689 6.83 1 Cell membrane NA Acts as an activating immune receptor through its interaction with ITAM-bearing adapter TYROBP, and also independently by recruitment of GRB2. Phosphorylation on Tyr-188 by FYN is required for interaction with GRB2. Belongs to the CD300 family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;DAP12 interactions PE1 17 +NX_A8K554 Putative protein ZNF815 130 15437 6.04 0 NA NA NA NA NA NA PE5 7 +NX_A8K5M9 Uncharacterized protein C15orf62, mitochondrial 175 19679 8.66 0 Mitochondrion NA NA NA NA NA PE1 15 +NX_A8K7I4 Calcium-activated chloride channel regulator 1 914 100226 5.97 0 Extracellular space;Cell membrane NA May be involved in mediating calcium-activated chloride conductance. May play critical roles in goblet cell metaplasia, mucus hypersecretion, cystic fibrosis and AHR. May be involved in the regulation of mucus production and/or secretion by goblet cells. Involved in the regulation of tissue inflammation in the innate immune response. May play a role as a tumor suppressor. Induces MUC5AC. Glycosylated.;The 125-kDa product is autoproteolytically processed by the metalloprotease domain and yields to two cell-surface-associated subunits, a 90-kDa protein and a group of 37-to 41-kDa proteins. The cleavage is necessary for calcium-activated chloride channel (CaCC) activation activity. Belongs to the CLCR family. Olfactory transduction;Pancreatic secretion;Stimuli-sensing channels PE1 1 +NX_A8K830 Colorectal cancer-associated protein 2 154 16850 4.27 0 Cytoplasm NA NA NA NA NA PE2 11 +NX_A8K855 EF-hand calcium-binding domain-containing protein 7 629 71981 6.01 0 Cell membrane;Nucleolus;Nucleoplasm;Cilium membrane;Cytosol NA Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Required for the localization of the EVC2:EVC subcomplex at the base of primary cilia. NA NA Activation of SMO PE1 1 +NX_A8K8P3 Protein SFI1 homolog 1242 147664 10.82 0 Centriole NA Plays a role in the dynamic structure of centrosome-associated contractile fibers via its interaction with CETN2. NA Belongs to the SFI1 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 22 +NX_A8K8V0 Zinc finger protein 785 405 46168 9.28 0 Nucleoplasm;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_A8K979 ERI1 exoribonuclease 2 691 77401 9.12 0 Golgi apparatus;Nucleoplasm NA NA NA Belongs to the ERI2 family. NA PE1 16 +NX_A8MPP1 Putative ATP-dependent RNA helicase DDX11-like protein 8 907 101811 7.28 0 Nucleolus NA Putative DNA helicase. NA Belongs to the DEAD box helicase family. DEAH subfamily. DDX11/CHL1 sub-subfamily. NA PE1 12 +NX_A8MPS7 Carbohydrate deacetylase 323 34466 5.96 0 Nucleoplasm NA Probably catalyzes the deacetylation of acetylated carbohydrates an important step in the degradation of oligosaccharides. NA Belongs to the YdjC deacetylase family. NA PE1 22 +NX_A8MPX8 Protein phosphatase 2C-like domain-containing protein 1 630 71643 8.93 0 Nucleoplasm;Cytoskeleton NA NA NA Belongs to the PP2C family. NA PE1 3 +NX_A8MPY1 Gamma-aminobutyric acid receptor subunit rho-3 467 54272 8.33 4 Postsynaptic cell membrane;Cell membrane NA GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRR3 sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse;GABA receptor activation PE2 3 +NX_A8MQ03 Cysteine-rich tail protein 1 144 15313 6.67 0 Endoplasmic reticulum;Cytoplasmic vesicle;Nucleus speckle;Midbody NA NA NA Belongs to the CYSRT1 family. NA PE1 9 +NX_A8MQ11 Postmeiotic segregation increased 2-like protein 5 134 15170 10.61 0 NA NA NA NA Belongs to the DNA mismatch repair MutL/HexB family. NA PE5 7 +NX_A8MQ14 Zinc finger protein 850 1090 125431 9.02 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_A8MQ27 E3 ubiquitin-protein ligase NEURL1B 555 59270 8.76 0 Cytoplasm;Cytoplasmic vesicle NA E3 ubiquitin-protein ligase involved in regulation of the Notch pathway through influencing the stability and activity of several Notch ligands. NA NA Protein modification; protein ubiquitination.;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activated NOTCH1 Transmits Signal to the Nucleus;Constitutive Signaling by NOTCH1 HD Domain Mutants;NOTCH2 Activation and Transmission of Signal to the Nucleus;NOTCH3 Activation and Transmission of Signal to the Nucleus PE1 5 +NX_A8MQB3 Putative uncharacterized protein LINC02693 221 24325 9.82 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA NA NA NA NA PE5 17 +NX_A8MQT2 Golgin subfamily A member 8B 603 67278 6.46 0 Golgi stack membrane NA May be involved in maintaining Golgi structure. NA Belongs to the GOLGA8 family. NA PE2 15 +NX_A8MRT5 Nuclear pore complex-interacting protein family member B5 1133 126459 10.12 1 Membrane NA NA NA Belongs to the NPIP family. NA PE2 16 +NX_A8MSI8 LYR motif-containing protein 9 78 9374 9.69 0 NA NA NA NA Belongs to the complex I LYR family. LYRM9 subfamily. NA PE1 17 +NX_A8MT19 Putative rhophilin-2-like protein RHPN2P1 583 65945 6.51 0 NA NA NA NA NA NA PE5 15 +NX_A8MT33 Synaptonemal complex central element protein 1-like 242 27397 4.99 0 Cytoskeleton NA May be involved in meiosis. NA Belongs to the SYCE family. NA PE1 16 +NX_A8MT65 Zinc finger protein 891 544 63592 9.01 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 12 +NX_A8MT66 Putative uncharacterized protein ENSP00000383407 165 19292 6.16 0 NA NA NA NA NA NA PE5 21 +NX_A8MT69 Centromere protein X 81 8959 5.59 0 Kinetochore;Centromere;Nucleus NA DNA-binding component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:20347428, PubMed:20347429). In complex with CENPS (MHF heterodimer), crucial cofactor for FANCM in both binding and ATP-dependent remodeling of DNA. Stabilizes FANCM. In complex with CENPS and FANCM (but not other FANC proteins), rapidly recruited to blocked forks and promotes gene conversion at blocked replication forks (PubMed:20347428, PubMed:20347429). In complex with CENPS, CENPT and CENPW (CENP-T-W-S-X heterotetramer), involved in the formation of a functional kinetochore outer plate, which is essential for kinetochore-microtubule attachment and faithful mitotic progression (PubMed:19620631). As a component of MHF and CENP-T-W-S-X complexes, binds DNA and bends it to form a nucleosome-like structure (PubMed:20347428, PubMed:20347429). DNA-binding function is fulfilled in the presence of CENPS, with the following preference for DNA substates: Holliday junction > double-stranded > splay arm > single-stranded. Does not bind DNA on its own (PubMed:20347429). NA Belongs to the CENP-X/MHF2 family. Fanconi anemia pathway;Deposition of new CENPA-containing nucleosomes at the centromere;Fanconi Anemia Pathway PE1 17 +NX_A8MT70 Zinc finger B-box domain-containing protein 1 800 91426 5.43 0 NA NA NA NA NA NA PE1 3 +NX_A8MTA8 Protein FAM166B 275 30575 8.38 0 NA NA NA NA Belongs to the UPF0605 family. NA PE1 9 +NX_A8MTB9 Carcinoembryonic antigen-related cell adhesion molecule 18 384 43320 5.94 0 Midbody NA NA NA Belongs to the immunoglobulin superfamily. CEA family. NA PE2 19 +NX_A8MTI9 Putative serine protease 47 375 41188 9 0 Secreted NA NA NA Belongs to the peptidase S1 family. NA PE5 9 +NX_A8MTJ3 Guanine nucleotide-binding protein G(t) subunit alpha-3 354 40357 5.69 0 Cytoplasm NA Guanine nucleotide-binding protein (G protein) alpha subunit playing a prominent role in bitter and sweet taste transduction as well as in umami (monosodium glutamate, monopotassium glutamate, and inosine monophosphate) taste transduction. Transduction by this alpha subunit involves coupling of specific cell-surface receptors with a cGMP-phosphodiesterase; Activation of phosphodiesterase lowers intracellular levels of cAMP and cGMP which may open a cyclic nucleotide-suppressible cation channel leading to influx of calcium, ultimately leading to release of neurotransmitter. Indeed, denatonium and strychnine induce transient reduction in cAMP and cGMP in taste tissue, whereas this decrease is inhibited by GNAT3 antibody. Gustducin heterotrimer transduces response to bitter and sweet compounds via regulation of phosphodiesterase for alpha subunit, as well as via activation of phospholipase C for beta and gamma subunits, with ultimate increase inositol trisphosphate and increase of intracellular Calcium. GNAT3 can functionally couple to taste receptors to transmit intracellular signal: receptor heterodimer TAS1R2/TAS1R3 senses sweetness and TAS1R1/TAS1R3 transduces umami taste, whereas the T2R family GPCRs act as bitter sensors. Functions also as lumenal sugar sensors in the gut to control the expression of the Na+-glucose transporter SGLT1 in response to dietaty sugar, as well as the secretion of Glucagon-like peptide-1, GLP-1 and glucose-dependent insulinotropic polypeptide, GIP. Thus, may modulate the gut capacity to absorb sugars, with implications in malabsorption syndromes and diet-related disorders including diabetes and obesity. Potential N-myristoylation may anchor alpha-subunit to the inner surface of plasma membrane. Belongs to the G-alpha family. G(i/o/t/z) subfamily. Taste transduction;Phototransduction;Carbohydrate digestion and absorption;G alpha (i) signalling events;G alpha (s) signalling events;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);G-protein activation;ADP signalling through P2Y purinoceptor 12;G alpha (z) signalling events;PLC beta mediated events;Adenylate cyclase inhibitory pathway;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling PE1 7 +NX_A8MTJ6 Forkhead box protein I3 420 43326 8.51 0 Nucleus NA Possible transcriptional factor. NA NA NA PE1 2 +NX_A8MTL0 IQ domain-containing protein F5 148 18048 10.05 0 NA NA NA NA NA NA PE1 3 +NX_A8MTL3 RING finger protein 212B 300 33570 9.78 0 NA NA NA NA NA NA PE1 14 +NX_A8MTL9 Serpin-like protein HMSD 139 15355 5.27 0 Secreted NA Putative serine protease inhibitor. NA Belongs to the serpin family. NA PE2 18 +NX_A8MTQ0 Homeobox protein notochord 251 27003 9.43 0 Nucleus NA Transcription regulator acting downstream of both FOXA2 and Brachyury (T) during notochord development. Required for node morphogenesis. Is essential for cilia formation in the posterior notochord (PNC) and for left-right patterning; acts upstream of FOXJ1 and RFX3 in this process and is required for the expression of various components important for axonemal assembly and function. Plays a role in regulating axial versus paraxial cell fate. Activates the transcription of ciliary proteins C11orf97 homolog, FAM183B and SPACA9 in the embryonic ventral node (By similarity). NA NA NA PE2 2 +NX_A8MTT3 Protein CEBPZOS 80 9336 9.7 1 Mitochondrion membrane;Nucleoplasm NA NA NA NA NA PE1 2 +NX_A8MTW9 Putative uncharacterized protein ENSP00000380674 85 8750 10.5 0 Secreted NA NA NA NA NA PE5 2 +NX_A8MTY0 Zinc finger protein 724 619 71172 9.29 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_A8MTY7 Keratin-associated protein 9-7 169 17793 8.01 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity). NA Belongs to the KRTAP type 9 family. Keratinization PE1 17 +NX_A8MTZ0 BBSome-interacting protein 1 92 10506 9.42 0 Cytoplasm;Cilium Bardet-Biedl syndrome 18 The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for primary cilia assembly and BBSome stability. Regulates cytoplasmic microtubule stability and acetylation. NA Belongs to the BBIP10 family. BBSome-mediated cargo-targeting to cilium PE1 10 +NX_A8MTZ7 Uncharacterized protein C12orf71 269 30355 5.21 0 NA NA NA NA NA NA PE1 12 +NX_A8MU10 Putative uncharacterized protein ENSP00000381562 97 10262 9.79 0 NA NA NA NA NA NA PE4 17 +NX_A8MU46 Smoothelin-like protein 1 494 52987 4.67 0 I band;Nucleus;M line;Myofibril NA Plays a role in the regulation of contractile properties of both striated and smooth muscles. When unphosphorylated, may inhibit myosin dephosphorylation. Phosphorylation at Ser-299 reduces this inhibitory activity (By similarity). Maximal phosphorylation of Ser-336 correlates with maximal relaxation of aorta in response to acetylcholine. Belongs to the smoothelin family. NA PE1 11 +NX_A8MU76 Putative UPF0607 protein ENSP00000381418 341 37608 10.73 0 NA NA NA NA Belongs to the UPF0607 family. NA PE2 16 +NX_A8MU93 Uncharacterized protein C17orf100 118 13000 11.57 0 Nucleoplasm;Cytosol;Cytoskeleton NA NA NA NA NA PE1 17 +NX_A8MUA0 Putative UPF0607 protein ENSP00000381514 341 37841 10.75 0 NA NA NA NA Belongs to the UPF0607 family. NA PE3 2 +NX_A8MUH7 Putative PDZ domain-containing protein PDZK1P1 402 44056 5.4 0 NA NA NA NA Belongs to the NHER family. NA PE5 1 +NX_A8MUI8 Putative UPF0607 protein ENSP00000383783 341 37626 9.9 0 NA NA NA NA Belongs to the UPF0607 family. NA PE3 1 +NX_A8MUK1 Ubiquitin carboxyl-terminal hydrolase 17-like protein 5 530 59683 8.35 0 Endoplasmic reticulum;Nucleus NA Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection. NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE3 4 +NX_A8MUL3 Putative uncharacterized protein ADARB2-AS1 147 15836 7.71 0 NA NA NA NA NA NA PE5 10 +NX_A8MUM7 Galectin-16 142 16576 5.53 0 NA NA Binds lactose with high affinity. Strong inducer of T-cell apoptosis. NA NA NA PE2 19 +NX_A8MUN3 Putative uncharacterized protein ENSP00000381830 132 14205 9.1 0 Secreted NA NA NA NA NA PE5 17 +NX_A8MUP2 Citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial 240 25910 5.51 0 Mitochondrion NA Protein-lysine methyltransferase that selectively trimethylates citrate synthase (CS) in mitochondria (PubMed:28391595, PubMed:28887308). Seems to conduct trimethylation in a highly distributive manner rather than in a processive manner, and thus introduces a single methly group per binding event (PubMed:28887308). NA Belongs to the methyltransferase superfamily. NA PE1 11 +NX_A8MUP6 Germ cell-specific gene 1-like protein 2 293 32443 6.3 4 Membrane NA NA NA Belongs to the GSG1 family. NA PE2 17 +NX_A8MUU1 Putative fatty acid-binding protein 5-like protein 3 101 11299 7.66 0 NA NA High specificity for fatty acids. NA Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. NA PE5 7 +NX_A8MUU9 Putative uncharacterized protein ENSP00000383309 505 55306 13.3 0 NA NA NA NA NA NA PE5 22 +NX_A8MUV8 Putative zinc finger protein 727 499 57972 9.3 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE5 7 +NX_A8MUX0 Keratin-associated protein 16-1 517 53912 5.37 0 NA NA NA NA Belongs to the KRTAP type 16 family. Keratinization PE1 17 +NX_A8MUZ8 Putative zinc finger protein 705G 300 34765 9.37 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 8 +NX_A8MV23 Serpin E3 424 46963 6.7 0 Secreted NA Probable serine protease inhibitor. NA Belongs to the serpin family. NA PE1 13 +NX_A8MV24 Uncharacterized protein C17orf98 154 17565 9.8 0 Nucleolus;Cytoskeleton NA NA NA NA NA PE1 17 +NX_A8MV57 Putative mucosal pentraxin homolog 137 15138 5.89 0 NA NA NA NA Belongs to the pentraxin family. NA PE5 1 +NX_A8MV65 Transcription cofactor vestigial-like protein 3 326 36009 5.9 0 Nucleus;Cytosol;Nucleolus NA May act as a specific coactivator for the mammalian TEFs. NA Belongs to the vestigial family. NA PE1 3 +NX_A8MV72 Putative UPF0607 protein ENSP00000382826 311 34164 10.58 0 NA NA NA NA Belongs to the UPF0607 family. NA PE5 8 +NX_A8MV81 HIG1 domain family member 1C 97 11079 9.72 2 Membrane NA NA NA NA NA PE2 12 +NX_A8MVA2 Keratin-associated protein 9-6 160 16800 7.95 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity). NA Belongs to the KRTAP type 9 family. Keratinization PE1 17 +NX_A8MVJ9 Putative histone PARylation factor 1-like 347 39722 8.28 0 NA NA NA NA Belongs to the HPF1 family. NA PE5 9 +NX_A8MVM7 Putative uncharacterized protein ENSP00000382790 634 73452 9.81 0 NA NA NA NA NA NA PE5 4 +NX_A8MVS1 Zinc finger protein 705F 300 34857 9.31 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE3 8 +NX_A8MVS5 Protein HIDE1 230 24753 6.82 1 Membrane;Golgi apparatus;Cytosol;Cell membrane NA NA NA NA NA PE1 19 +NX_A8MVU1 Putative neutrophil cytosol factor 1C 366 41851 8.95 0 Cytoplasm NA May be required for activation of the latent NADPH oxidase (necessary for superoxide production). NA NA NA PE5 7 +NX_A8MVW0 Protein FAM171A2 826 87435 8.14 1 Membrane NA NA NA Belongs to the FAM171 family. NA PE1 17 +NX_A8MVW5 HEPACAM family member 2 462 51407 6.09 1 Nucleoplasm;Centrosome;Golgi apparatus membrane;Cytoplasmic vesicle;Spindle;Midbody NA Required during prometaphase for centrosome maturation. Following poly-ADP-ribosylation (PARsylation) by TNKS, translocates from the Golgi apparatus to mitotic centrosomes and plays a key role in the formation of robust microtubules for prompt movement of chromosomes: anchors AKAP9/CG-NAP, a scaffold protein of the gamma-tubulin ring complex and promotes centrosome maturation. Poly-ADP-ribosylated (PARsylated) by tankyrase TNKS during late G2 and prophase, leading to translocation to mitotic centrosomes.;N-glycosylated. NA NA PE1 7 +NX_A8MVX0 Rho guanine nucleotide exchange factor 33 844 94633 6.37 0 Cytoplasmic vesicle NA May act as a guanine-nucleotide releasing factor. NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 2 +NX_A8MVZ5 Butyrophilin-like protein 10 291 32612 8.7 1 Membrane NA NA NA Belongs to the immunoglobulin superfamily. BTN/MOG family. NA PE5 1 +NX_A8MW92 PHD finger protein 20-like protein 1 1017 115010 6.39 0 Nucleoplasm;Cell membrane NA NA NA NA NA PE1 8 +NX_A8MW95 Beclin-2 431 48153 4.78 0 Cytoplasm NA Involved in 2 distinct lysosomal degradation pathways: acts as a regulator of autophagy and as a regulator of G-protein coupled receptors turnover. Regulates degradation in lysosomes of a variety of G-protein coupled receptors via its interaction with GPRASP1/GASP1. NA Belongs to the beclin family. NA PE1 1 +NX_A8MW99 Meiosis-specific protein MEI4 385 44024 5.82 0 Chromosome NA Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with IHO1/CCDC36 and REC114, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis. NA Belongs to the MEI4L family. NA PE2 6 +NX_A8MWA4 Putative zinc finger protein 705E 300 34697 9.01 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 11 +NX_A8MWA6 Putative protein FAM90A22P 464 49874 9.86 0 NA NA NA NA Belongs to the FAM90 family. NA PE5 8 +NX_A8MWD9 Putative small nuclear ribonucleoprotein G-like protein 15 76 8544 8.93 0 Nucleus NA Associated with snRNP U1, U2, U4/U6 and U5. NA Belongs to the snRNP Sm proteins family. NA PE5 19 +NX_A8MWE9 EF-hand calcium-binding domain-containing protein 8 144 16428 5.04 0 NA NA NA NA NA NA PE2 20 +NX_A8MWK0 Putative fatty acid desaturase 2-like protein FADS2P1 482 56358 8.02 4 Endoplasmic reticulum membrane NA NA NA Belongs to the fatty acid desaturase type 1 family. Lipid metabolism; polyunsaturated fatty acid biosynthesis. PE5 11 +NX_A8MWL6 Putative synaptogyrin-2 like protein 223 24647 4.38 4 Membrane NA NA NA Belongs to the synaptogyrin family. NA PE5 15 +NX_A8MWL7 Transmembrane protein 14DP 114 12177 9.57 4 Membrane NA NA NA Belongs to the TMEM14 family. NA PE5 10 +NX_A8MWP4 Putative uncharacterized protein ENSP00000401716 228 24535 9.77 0 NA NA NA NA NA NA PE5 21 +NX_A8MWP6 Uncharacterized protein ENSP00000382042 167 18109 5.64 0 NA NA NA NA NA NA PE2 17 +NX_A8MWV9 Small integral membrane protein 34A 139 15007 8.6 1 Membrane NA NA NA NA NA PE2 21 +NX_A8MWX3 Putative WAS protein family homolog 4 477 51595 6.24 0 Early endosome membrane;Recycling endosome membrane NA May act as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting. NA Belongs to the WASH1 family. NA PE5 16 +NX_A8MWY0 UPF0577 protein KIAA1324-like 1029 113842 5.75 1 Membrane;Endoplasmic reticulum NA NA NA Belongs to the UPF0577 family. NA PE1 7 +NX_A8MX19 Putative protein FAM90A12P 464 49786 9.98 0 NA NA NA NA Belongs to the FAM90 family. NA PE5 8 +NX_A8MX34 Keratin-associated protein 29-1 341 35211 5.89 0 NA NA NA NA Belongs to the KRTAP type 10 family. Keratinization PE2 17 +NX_A8MX76 Calpain-14 684 79568 8.86 0 NA NA Calcium-regulated non-lysosomal thiol-protease. NA Belongs to the peptidase C2 family. Degradation of the extracellular matrix PE1 2 +NX_A8MX80 Putative UPF0607 protein ENSP00000383144 341 37634 10.46 0 NA NA NA NA Belongs to the UPF0607 family. NA PE3 13 +NX_A8MXD5 Glutaredoxin domain-containing cysteine-rich protein 1 290 32294 7.48 0 Stereocilium;Microvillus;Kinocilium Deafness, autosomal recessive, 25 May play a role in actin filament architecture in developing stereocilia of sensory cells. NA Belongs to the GRXCR1 family. NA PE1 4 +NX_A8MXE2 Putative UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase LOC100288842 369 42761 7.08 1 Golgi apparatus membrane NA Putative glycosyltransferase. NA Belongs to the glycosyltransferase 2 family. NA PE5 9 +NX_A8MXJ8 Putative protein FAM90A5P 464 49840 9.86 0 NA NA NA NA Belongs to the FAM90 family. NA PE5 8 +NX_A8MXK1 V-set and transmembrane domain-containing protein 5 200 22377 8.15 1 Endoplasmic reticulum;Axon;Dendrite;Cell membrane NA Cell adhesion-like membrane protein of the central nervous system (CNS) which modulates both the position and complexity of central neurons by altering their membrane morphology and dynamics. Involved in the formation of neuronal dendrites and protrusions including dendritic filopodia. In synaptogenesis, regulates synapse formation by altering dendritic spine morphology and actin distribution. Promotes formation of unstable neuronal spines such as thin and branched types. Regulates neuronal morphogenesis and migration during cortical development in the brain. N-glycosylated. NA NA PE2 11 +NX_A8MXK9 Uncharacterized protein ENSP00000382033 166 18008 6.09 0 NA NA NA NA NA NA PE2 17 +NX_A8MXQ7 Putative IQ motif and ankyrin repeat domain-containing protein LOC642574 604 68295 6.18 0 NA NA NA NA NA NA PE5 8 +NX_A8MXT2 Melanoma-associated antigen B17 336 37578 9.25 0 Nucleoplasm NA NA NA NA NA PE1 X +NX_A8MXU0 Putative beta-defensin 108A 73 8390 8.9 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins PE5 8 +NX_A8MXV4 Nucleoside diphosphate-linked moiety X motif 19 375 42233 7.28 0 Nucleoplasm;Peroxisome;Cytosol;Nucleolus NA Coenzyme A diphosphatase that mediates the hydrolysis of a wide range of CoA esters, including choloyl-CoA and branched-chain fatty-acyl-CoA esters. At low substrate concentrations medium and long-chain fatty-acyl-CoA esters are the primary substrates (By similarity). NA Belongs to the Nudix hydrolase family. Peroxisome;Peroxisomal lipid metabolism;Peroxisomal protein import PE1 19 +NX_A8MXV6 CMT1A duplicated region transcript 15 protein-like protein 281 30100 9.53 1 Membrane NA NA NA NA NA PE2 17 +NX_A8MXY4 Zinc finger protein 99 864 100791 9.54 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 19 +NX_A8MXZ1 Putative protein FAM90A23P 464 49910 9.98 0 NA NA NA NA Belongs to the FAM90 family. NA PE5 8 +NX_A8MXZ3 Keratin-associated protein 9-1 250 26333 8.05 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity). NA Belongs to the KRTAP type 9 family. Keratinization PE1 17 +NX_A8MY62 Putative beta-lactamase-like 1 500 54653 8.75 0 NA NA NA NA Belongs to the beta-lactamase family. NA PE1 1 +NX_A8MYA2 Uncharacterized protein CXorf49 514 54417 9.18 0 NA NA NA NA NA NA PE1 X +NX_A8MYB1 Transmembrane and coiled-coil domain-containing protein 5B 307 35763 4.98 1 Membrane NA NA NA Belongs to the TMCO5 family. NA PE3 15 +NX_A8MYJ7 Tetratricopeptide repeat protein 34 566 60903 6.98 0 NA NA NA NA NA NA PE1 1 +NX_A8MYP8 Outer dense fiber protein 3B 253 27280 10.42 0 NA NA NA NA Belongs to the ODF3 family. NA PE1 22 +NX_A8MYU2 Potassium channel subfamily U member 1 1149 129543 8.08 7 Cell membrane NA Testis-specific potassium channel activated by both intracellular pH and membrane voltage that mediates export of K(+). May represent the primary spermatozoan K(+) current. In contrast to KCNMA1/SLO1, it is not activated by Ca(2+) or Mg(2+). Critical for fertility. May play an important role in sperm osmoregulation required for the acquisition of normal morphology and motility when faced with osmotic challenges, such as those experienced after mixing with seminal fluid and entry into the vagina. NA Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa5.1/KCNU1 sub-subfamily. Vascular smooth muscle contraction;Sperm Motility And Taxes PE1 8 +NX_A8MYV0 Doublecortin domain-containing protein 2C 355 40425 9.46 0 Cytoplasm;Flagellum NA NA NA NA NA PE1 2 +NX_A8MYX2 Protein FAM25E 175 18345 6.23 0 NA NA NA NA Belongs to the FAM25 family. NA PE2 10 +NX_A8MYZ0 Inactive ubiquitin carboxyl-terminal hydrolase MINDY-4B 460 51976 6.25 0 NA NA NA NA Belongs to the MINDY deubiquitinase family. FAM188 subfamily. NA PE2 3 +NX_A8MYZ5 IQ domain-containing protein F6 107 13059 11.71 0 NA NA NA NA NA NA PE1 3 +NX_A8MYZ6 Forkhead box protein O6 492 50595 5.25 0 Cytoplasm;Nucleus NA Transcriptional activator. Phosphorylation of Ser-184 is be important in regulating the transacriptional activity. NA AKT phosphorylates targets in the nucleus;Constitutive Signaling by AKT1 E17K in Cancer;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes;Regulation of localization of FOXO transcription factors PE1 1 +NX_A8MZ25 Putative uncharacterized protein FLJ38767 164 18125 11.55 0 NA NA NA NA NA NA PE5 17 +NX_A8MZ26 EF-hand calcium-binding domain-containing protein 9 197 23937 8.95 0 Cytoplasm;Flagellum NA PH-dependent Ca(2+) sensor required to activate the CatSper channel, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Associates with the CatSper complex via direct interaction with CATSPERZ, and senses intracellular Ca(2+). Together with CATSPERZ, associates with the CatSper channel pore and is required for the two-row structure of each single CatSper channel. NA NA NA PE1 5 +NX_A8MZ36 Envoplakin-like protein 301 33953 5.8 0 Nucleoplasm;Nucleus NA NA NA Belongs to the plakin or cytolinker family. NA PE1 17 +NX_A8MZ59 Leucine-twenty homeobox 168 18626 5.68 0 Nucleoplasm;Nucleolus;Nucleus NA NA NA Belongs to the paired homeobox family. NA PE2 19 +NX_A8MZ97 Uncharacterized protein C2orf74 194 21915 6.01 1 Membrane;Centrosome NA NA NA NA NA PE1 2 +NX_A8MZA4 Golgin subfamily A member 6-like protein 6 724 90952 5.06 0 NA NA NA NA Belongs to the GOLGA6 family. NA PE2 15 +NX_A8MZF0 Proline-rich protein 33 331 35187 8.54 0 NA NA NA NA NA NA PE1 11 +NX_A8MZG2 Uncharacterized protein C16orf90 182 19564 8.54 0 NA NA NA NA NA NA PE2 16 +NX_A8MZH6 Putative oocyte-secreted protein 1 homolog 123 14433 8.23 0 Secreted NA May be involved in cell differentiation. NA Belongs to the PLAC1 family. NA PE5 11 +NX_A8TX70 Collagen alpha-5(VI) chain 2615 289926 6.5 0 Extracellular matrix NA Collagen VI acts as a cell-binding protein. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Belongs to the type VI collagen family. Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Collagen chain trimerization PE1 3 +NX_A9QM74 Importin subunit alpha-8 516 56938 5.73 0 Nucleus NA Functions in nuclear protein import. NA Belongs to the importin alpha family. ISG15 antiviral mechanism;NS1 Mediated Effects on Host Pathways PE1 7 +NX_A9UHW6 MIF4G domain-containing protein 222 25423 5.23 0 Golgi apparatus;Cytoplasm;Nucleolus;Cytosol;Nucleus NA Functions in replication-dependent translation of histone mRNAs which differ from other eukaryotic mRNAs in that they do not end with a poly-A tail but a stem-loop. May participate in circularizing those mRNAs specifically enhancing their translation. NA Belongs to the MIF4GD family. NA PE1 17 +NX_A9YTQ3 Aryl hydrocarbon receptor repressor 701 76265 9.14 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Mediates dioxin toxicity and is involved in regulation of cell growth and differentiation. Represses the transcription activity of AHR by competing with this transcription factor for heterodimer formation with the ARNT and subsequently binding to the xenobiotic response element (XRE) sequence present in the promoter regulatory region of variety of genes. Represses CYP1A1 by binding the XRE sequence and recruiting ANKRA2, HDAC4 and/or HDAC5. Autoregulates its expression by associating with its own XRE site. NA NA Xenobiotics;PPARA activates gene expression;Endogenous sterols;Phase I - Functionalization of compounds;Aryl hydrocarbon receptor signalling PE1 5 +NX_A9Z1Z3 Fer-1-like protein 4 1794 200980 5.88 1 Membrane NA NA NA Belongs to the ferlin family. NA PE2 20 +NX_B0FP48 Uroplakin-3b-like protein 1 263 28385 8.4 1 Membrane NA NA NA Belongs to the uroplakin-3 family. NA PE1 7 +NX_B0I1T2 Unconventional myosin-Ig 1018 116442 8.96 0 Phagocytic cup;Cell membrane NA Unconventional myosin required during immune response for detection of rare antigen-presenting cells by regulating T-cell migration. Unconventional myosins are actin-based motor molecules with ATPase activity and serve in intracellular movements. Acts as a regulator of T-cell migration by generating membrane tension, enforcing cell-intrinsic meandering search, thereby enhancing detection of rare antigens during lymph-node surveillance, enabling pathogen eradication. Also required in B-cells, where it regulates different membrane/cytoskeleton-dependent processes. Involved in Fc-gamma receptor (Fc-gamma-R) phagocytosis.;Minor histocompatibility antigen HA-2: Constitutes the minor histocompatibility antigen HA-2. More generally, minor histocompatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and their expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocompatibility antigen in HLA-matched sibling marrow transplants. HA-2 is restricted to MHC class I HLA-A*0201. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. NA PE1 7 +NX_B0YJ81 Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 288 32388 9.1 6 Endoplasmic reticulum membrane Myopathy, congenital, with fiber-type disproportion In tooth development, may play a role in the recruitment and the differentiation of cells that contribute to cementum formation. May also bind hydroxyapatite and regulate its crystal nucleation to form cementum.;Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. N-glycosylated. Belongs to the very long-chain fatty acids dehydratase HACD family. Lipid metabolism; fatty acid biosynthesis.;Fatty acid elongation;Biosynthesis of unsaturated fatty acids;Synthesis of very long-chain fatty acyl-CoAs PE1 10 +NX_B1AH88 Putative peripheral benzodiazepine receptor-related protein 102 10537 8.81 0 NA NA NA NA NA Neuroactive ligand-receptor interaction;HTLV-I infection PE5 22 +NX_B1AJZ1 Putative uncharacterized protein C1orf196 125 14253 7.82 0 NA NA NA NA NA NA PE5 1 +NX_B1AJZ9 Forkhead-associated domain-containing protein 1 1412 161904 6.52 0 Nucleus NA NA NA NA NA PE1 1 +NX_B1AK53 Espin 854 91733 6.47 0 Stereocilium;Cytoplasmic vesicle;Microvillus;Cytoskeleton Deafness, autosomal recessive, 36, with or without vestibular involvement Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and chemosensory cells. Required for the assembly and stabilization of the stereociliary parallel actin bundles. Plays a crucial role in the formation and maintenance of inner ear hair cell stereocilia. Involved in the elongation of actin in stereocilia. In extrastriolar hair cells, required for targeting MYO3B to stereocilia tips, and for regulation of stereocilia diameter and staircase formation. NA NA NA PE1 1 +NX_B1AK76 Putative SNURF-like protein 121 14245 8.82 0 NA NA NA NA Belongs to the SNURF family. NA PE5 X +NX_B1AKI9 Isthmin-1 464 52107 5.22 0 Secreted NA Acts as an angiogenesis inhibitor. NA Belongs to the isthmin family. NA PE1 20 +NX_B1AL46 NUT family member 2E 878 93979 7.97 0 NA NA NA NA Belongs to the NUT family. NA PE2 10 +NX_B1AL88 Transmembrane protein FAM155A 458 51493 6.2 2 Membrane;Cytoplasmic vesicle;Nucleoplasm;Centrosome NA NA NA Belongs to the FAM155 family. NA PE1 13 +NX_B1AMM8 Putative uncharacterized protein encoded by LINC00587 73 8554 6.39 0 NA NA NA NA NA NA PE5 9 +NX_B1ANH7 Putative uncharacterized protein IBA57-DT 110 12198 9.26 0 NA NA NA NA NA NA PE5 1 +NX_B1ANS9 WD repeat-containing protein 64 1081 123631 8.47 0 NA NA NA NA NA NA PE1 1 +NX_B1ANY3 Putative protein FAM220BP 271 29405 8.89 0 NA NA NA NA NA NA PE5 9 +NX_B1APH4 Putative zinc finger protein 487 448 51624 8.07 0 Nucleoplasm;Cytosol;Nucleus membrane;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE5 10 +NX_B1ATL7 Proline-rich protein 32 298 31890 7.26 0 NA NA NA NA NA NA PE2 X +NX_B2CW77 Killin 178 19958 11.27 0 Nucleoplasm;Nucleus;Nucleolus Cowden syndrome 4 DNA-binding protein involved in S phase checkpoint control-coupled apoptosis by mediating p53/TP53-induced apoptosis. Has the ability to inhibit DNA synthesis and S phase arrest coupled to apoptosis. Has affinity to both double- and single-stranded DNA. NA NA NA PE1 10 +NX_B2RBV5 Putative MORF4 family-associated protein 1-like protein UPP 119 13369 8.49 0 NA NA May play a role in cell proliferation. NA Belongs to the MORF4 family-associated protein family. NA PE1 4 +NX_B2RC85 Radial spoke head 10 homolog B2 870 100547 7.16 0 NA NA NA NA NA NA PE1 7 +NX_B2RD01 CENPB DNA-binding domain-containing protein 1 187 21052 6.54 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA NA NA NA NA PE2 16 +NX_B2RN74 Olfactory receptor 11H12 326 36530 8.14 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 14 +NX_B2RNN3 Complement C1q and tumor necrosis factor-related protein 9B 333 34713 8.23 0 Secreted NA Probable adipokine. Activates AMPK, AKT, and p44/42 MAPK signaling pathways. NA NA NA PE1 13 +NX_B2RPK0 Putative high mobility group protein B1-like 1 211 24238 5.92 0 Nucleus;Chromosome NA Binds preferentially single-stranded DNA and unwinds double-stranded DNA. NA Belongs to the HMGB family. NA PE5 20 +NX_B2RTY4 Unconventional myosin-IXa 2548 292706 9.03 1 Cytoplasm;Cell membrane;Growth cone;Membrane;Synapse Myasthenic syndrome, congenital, 24, presynaptic Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Regulates Rho by stimulating it's GTPase activity in neurons. Required for the regulation of neurite branching and motor neuron axon guidance (By similarity). Phosphorylated by ALPK1 following monosodium urate monohydrate (MSU)-induced inflammation. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Rho GTPase cycle PE1 15 +NX_B2RU33 POTE ankyrin domain family member C 542 61188 6.31 0 NA NA NA NA Belongs to the POTE family. NA PE1 18 +NX_B2RUY7 von Willebrand factor C domain-containing protein 2-like 222 24570 5.06 0 Secreted;Synapse NA May play a role in neurogenesis. May play a role in bone differentiation and matrix mineralization. NA NA NA PE1 2 +NX_B2RUZ4 Small integral membrane protein 1 78 8749 9.22 1 Cell membrane NA Regulator of red blood cell formation. NA Belongs to the SMIM1 family. NA PE1 1 +NX_B2RV13 Uncharacterized protein CFAP97D1 164 19546 10.07 0 NA NA NA NA Belongs to the CFAP97 family. NA PE1 17 +NX_B2RXF0 Transmembrane protein 229A 380 42370 9.95 6 Membrane;Cell membrane NA NA NA Belongs to the TMEM229 family. NA PE1 7 +NX_B2RXF5 Zinc finger and BTB domain-containing protein 42 422 46491 8.85 0 Nucleoplasm;Cytoplasm;Nucleus Lethal congenital contracture syndrome 6 Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes. NA Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily. NA PE1 14 +NX_B2RXH2 Lysine-specific demethylase 4E 506 56804 7.95 0 Nucleus NA Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. NA Belongs to the JHDM3 histone demethylase family. NA PE1 11 +NX_B2RXH4 BTB/POZ domain-containing protein 18 712 77931 4.94 0 Nucleus NA Specifically required during spermatogenesis to promote expression of piRNA precursors. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity. Acts by facilitating transcription elongation at piRNA loci during pachytene. NA NA NA PE2 11 +NX_B2RXH8 Heterogeneous nuclear ribonucleoprotein C-like 2 293 32072 5.29 0 Nucleus NA May play a role in nucleosome assembly by neutralizing basic proteins such as A and B core hnRNPs. NA Belongs to the RRM HNRPC family. RALY subfamily. NA PE1 1 +NX_B3EWF7 Laforin, isoform 9 344 35169 11.93 0 Nucleus NA NA NA NA NA PE1 6 +NX_B3EWG3 Protein FAM25A 89 9320 5.78 0 NA NA NA NA Belongs to the FAM25 family. NA PE1 10 +NX_B3EWG5 Protein FAM25C 89 9320 5.78 0 NA NA NA NA Belongs to the FAM25 family. NA PE1 10 +NX_B3EWG6 Protein FAM25G 89 9320 5.78 0 NA NA NA NA Belongs to the FAM25 family. NA PE1 10 +NX_B3GLJ2 Prostate and testis expressed protein 3 98 11747 9.3 0 Secreted NA NA NA Belongs to the PATE family. NA PE1 11 +NX_B3KS81 Serine/arginine repetitive matrix protein 5 715 80355 12.05 0 NA NA NA NA NA NA PE1 19 +NX_B3KU38 IQCJ-SCHIP1 readthrough transcript protein 563 62248 5.08 0 Cytoplasm;Axon NA May play a role in action potential conduction in myelinated cells through the organization of molecular complexes at nodes of Ranvier and axon initial segments (PubMed:25950943). May also play a role in axon outgrowth and guidance (By similarity). NA NA NA PE1 3 +NX_B3SHH9 Transmembrane protein 114 223 24166 5.9 4 Cell membrane NA NA NA Belongs to the PMP-22/EMP/MP20 family. NA PE2 16 +NX_B4DH59 Neuroblastoma breakpoint family member 26 902 103816 4.35 0 Cytoplasm NA NA NA Belongs to the NBPF family. NA PE5 1 +NX_B4DJY2 Transmembrane protein 233 109 12074 4.93 2 Membrane;Nucleoplasm NA NA NA Belongs to the CD225/Dispanin family. NA PE1 12 +NX_B4DS77 Protein shisa-9 424 46925 8.95 1 Dendritic spine membrane;Synapse NA Regulator of short-term neuronal synaptic plasticity in the dentate gyrus. Associates with AMPA receptors (ionotropic glutamate receptors) in synaptic spines and promotes AMPA receptor desensitization at excitatory synapses (By similarity). NA Belongs to the shisa family. SHISA9 subfamily. NA PE1 16 +NX_B4DU55 Zinc finger protein 879 563 64577 9.63 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 5 +NX_B4DX44 Zinc finger protein 736 427 49868 9.1 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_B4DXR9 Zinc finger protein 732 585 67839 9.19 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 4 +NX_B4DYI2 Putative spermatogenesis-associated protein 31C2 1134 124429 9.42 1 Membrane NA May play a role in spermatogenesis. NA Belongs to the SPATA31 family. NA PE5 9 +NX_B4DZS4 T-complex protein 11 X-linked protein 1 312 34563 4.6 0 NA NA NA NA Belongs to the TCP11 family. NA PE2 X +NX_B4E2M5 Ankyrin repeat domain-containing protein 66 251 27916 9.3 0 NA NA NA NA NA NA PE1 6 +NX_B5MCN3 Putative SEC14-like protein 6 397 45364 6.63 0 Nucleoplasm NA NA NA NA NA PE5 22 +NX_B5MCY1 Tudor domain-containing protein 15 1934 221722 6.67 0 NA NA NA NA NA NA PE1 2 +NX_B5MD39 Putative glutathione hydrolase light chain 3 225 24102 5.75 0 NA NA NA NA Belongs to the gamma-glutamyltransferase family. NA PE5 22 +NX_B5ME19 Eukaryotic translation initiation factor 3 subunit C-like protein 914 105473 5.45 0 Cytoplasm NA Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression. Phosphorylated. Phosphorylation is enhanced upon serum stimulation (By similarity). Belongs to the eIF-3 subunit C family. NA PE1 16 +NX_B6A8C7 T-cell-interacting, activating receptor on myeloid cells protein 1 271 29474 8.87 1 Cell membrane NA May act as receptor (By similarity). Negatively regulates TCR-mediated CD4(+) T cell proliferation and activation, possibly by binding an unknown ligand on the T cell surface (PubMed:26311901). Enhances Toll-like receptor-mediated production of pro-inflammatory cytokines by macrophages and neutrophils (By similarity). N-glycosylated. NA Neutrophil degranulation PE1 19 +NX_B6SEH8 Endogenous retrovirus group V member 1 Env polyprotein 477 52557 8.76 1 Membrane NA NA NA Belongs to the gamma type-C retroviral envelope protein family. NA PE2 19 +NX_B6SEH9 Endogenous retrovirus group V member 2 Env polyprotein 535 59317 8.87 2 Membrane NA NA NA Belongs to the gamma type-C retroviral envelope protein family. NA PE1 19 +NX_B7U540 Inward rectifier potassium channel 18 433 48880 5.76 2 Cell membrane Thyrotoxic periodic paralysis 2 Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Probably phosphorylated by PKC; decreases single-channel open probability. Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ12 subfamily. NA PE1 17 +NX_B7Z1M9 C2 calcium-dependent domain-containing protein 4D 353 37583 11.24 0 NA NA NA NA NA NA PE1 1 +NX_B7Z368 Uncharacterized protein C10orf142 130 13757 9.83 0 NA NA NA NA NA NA PE2 10 +NX_B7Z6K7 Zinc finger protein 814 855 97337 9.14 0 NA NA NA NA NA NA PE1 19 +NX_B7Z8K6 T cell receptor delta constant 153 17085 9.42 1 Cell membrane NA Constant region of T cell receptor (TR) delta chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:28920588, PubMed:23348415). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714). NA NA NA PE1 14 +NX_B7ZAP0 Rab GTPase-activating protein 1-like, isoform 10 253 29038 5.28 0 NA NA NA NA NA NA PE1 1 +NX_B7ZAQ6 Golgi pH regulator A 455 52917 9.34 9 Endoplasmic reticulum;Golgi apparatus membrane NA Voltage dependent anion channel required for acidification and functions of the Golgi apparatus that may function in counter-ion conductance. NA Belongs to the Golgi pH regulator (TC 1.A.38) family. NA PE1 1 +NX_B7ZBB8 Protein phosphatase 1 regulatory subunit 3G 358 38019 4.88 0 NA NA Glycogen-targeting subunit for protein phosphatase 1 (PP1). Involved in the regulation of hepatic glycogenesis in a manner coupled to the fasting-feeding cycle and distinct from other glycogen-targeting subunits (By similarity). NA NA NA PE1 6 +NX_B7ZC32 Kinesin-like protein KIF28P 967 108254 8.68 0 Mitochondrion membrane NA Microtubule-dependent motor protein required for mitochondrion morhology and transport of mitochondria in neuronal cells. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE3 1 +NX_B7ZW38 Heterogeneous nuclear ribonucleoprotein C-like 3 293 32029 5.48 0 Nucleus NA NA NA Belongs to the RRM HNRPC family. RALY subfamily. NA PE1 1 +NX_B8ZZ34 Protein shisa-8 397 41995 10.56 1 Membrane NA May regulate trafficking and current kinetics of AMPA-type glutamate receptor (AMPAR) at synapses. NA Belongs to the shisa family. NA PE1 22 +NX_B9A014 Protein FAM243A 251 29214 8.7 0 NA NA NA NA Belongs to the FAM243 family. NA PE2 21 +NX_B9A064 Immunoglobulin lambda-like polypeptide 5 214 23063 9.08 0 Secreted NA NA NA NA NA PE1 22 +NX_B9A6J9 TBC1 domain family member 3L 549 62187 9.2 0 Cell membrane NA Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination.;Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation. NA NA PE2 17 +NX_B9EJG8 Transmembrane protein 150C 249 27887 6.08 6 Lysosome membrane;Cell membrane NA Component of a mechanosensitive cation channel. Confers mechanically activated (MA) currents with slow inactivation kinetics. May contribute to proprioception. NA Belongs to the DRAM/TMEM150 family. NA PE1 4 +NX_B9ZVM9 T-complex protein 10A homolog 2 353 38357 7.18 0 NA NA NA NA Belongs to the TCP10 family. NA PE2 6 +NX_C4AMC7 Putative WAS protein family homolog 3 463 49995 5.36 0 Centriole;Early endosome;Lamellipodium;Autophagosome;Filopodium;Recycling endosome membrane;Early endosome membrane NA Acts as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:18159949, PubMed:20175130). Involved in endocytic trafficking of EGF (PubMed:20175130). Its assembly in the WASH core complex seems to inhibit its NPF activity and via WASHC2 is required for its membrane targeting. Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma membrane and involved in invasive cell migration (By similarity). In T-cells involved in endosome-to-membrane recycling of receptors including T-cell receptor (TCR), CD28 and ITGAL; proposed to be implicated in T cell proliferation and effector function. In dendritic cells involved in endosome-to-membrane recycling of major histocompatibility complex (MHC) class II probably involving retromer and subsequently allowing antigen sampling, loading and presentation during T-cell activation. Involved in Arp2/3 complex-dependent actin assembly driving Salmonella typhimurium invasion independent of ruffling (By similarity). Involved in the exocytosis of MMP14 leading to matrix remodeling during invasive migration and implicating late endosome-to-plasma membrane tubular connections and cooperation with the exocyst complex (By similarity). Involved in negative regulation of autophagy independently from its role in endosomal sorting by inhibiting BECN1 ubiquitination to inactivate PIK3C3/Vps34 activity (By similarity). NA Belongs to the WASH1 family. NA PE1 15 +NX_C9J069 Apical junction component 1 homolog 976 106650 9.26 0 Adherens junction;Focal adhesion;Cilium;Cytosol;Apical cell membrane NA May be involved in the control of adherens junction integrity. NA NA NA PE1 9 +NX_C9J1S8 Tripartite motif-containing protein 49D 452 52496 8.74 0 NA NA NA NA Belongs to the TRIM/RBCC family. NA PE1 11 +NX_C9J202 Putative glycosyltransferase ALG1L2 215 24154 5.47 0 NA NA Putative glycosyltransferase. NA Belongs to the glycosyltransferase group 1 family. NA PE2 3 +NX_C9J2P7 Ubiquitin carboxyl-terminal hydrolase 17-like protein 15 530 59676 8.22 0 Endoplasmic reticulum;Nucleus NA Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection. NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE2 4 +NX_C9J302 Uncharacterized protein C4orf51 202 23001 8.57 0 NA NA NA NA NA NA PE2 4 +NX_C9J3I9 Putative uncharacterized protein C5orf58 102 11666 6.84 0 NA NA NA NA NA NA PE1 5 +NX_C9J3V5 Testis-expressed protein 22 150 16880 10.33 0 Cytoplasm;Acrosome NA NA NA NA NA PE1 14 +NX_C9J442 Uncharacterized protein C22orf46 243 27532 8.94 0 Nucleoplasm;Secreted;Nucleolus NA NA NA NA NA PE5 22 +NX_C9J6K1 Putative uncharacterized protein C19orf81 198 22444 6.97 0 Cytoplasmic vesicle;Cytosol NA NA NA NA NA PE1 19 +NX_C9J798 Ras GTPase-activating protein 4B 803 90406 7.81 0 Cytosol;Cell membrane NA Ca(2+)-dependent Ras GTPase-activating protein, that may play a role in the Ras-MAPK pathway. NA NA NA PE1 7 +NX_C9J7I0 UBAP1-MVB12-associated (UMA)-domain containing protein 1 137 15200 4.35 0 Nucleoplasm NA NA NA NA NA PE1 7 +NX_C9JBD0 KRAB domain-containing protein 1 128 14906 9.42 0 Golgi apparatus;Nucleoplasm NA NA NA NA NA PE2 3 +NX_C9JC47 Putative protein FAM157A 383 42896 11.26 0 NA NA NA NA Belongs to the FAM157 family. NA PE3 3 +NX_C9JCN9 Heat shock factor-binding protein 1-like protein 1 74 8384 4.86 0 Nucleoplasm NA NA NA Belongs to the HSBP1 family. NA PE2 18 +NX_C9JDP6 Putative claudin-25 229 25394 5.37 4 Tight junction;Cell membrane NA Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. NA Belongs to the claudin family. NA PE5 11 +NX_C9JDV5 Putative uncharacterized protein C12orf77 145 16178 9.67 0 NA NA NA NA NA NA PE2 12 +NX_C9JE40 Protein PAT1 homolog 2 543 61464 5 0 Cytoplasm;Nucleus Oocyte maturation defect 4 RNA-binding protein that acts as a translational repressor. NA Belongs to the PAT1 family. NA PE1 15 +NX_C9JFL3 Proline, histidine and glycine-rich protein 1 82 7706 7.25 0 Cytoplasmic vesicle NA NA NA NA NA PE1 15 +NX_C9JG80 Nuclear pore complex-interacting protein family member B4 1138 126699 10.08 1 Membrane NA NA NA Belongs to the NPIP family. NA PE2 16 +NX_C9JH25 Proline-rich transmembrane protein 4 899 92712 6.27 5 Membrane;Peroxisome;Nucleoplasm;Cell membrane NA NA NA NA NA PE1 7 +NX_C9JI98 Transmembrane protein 238 176 18040 11.54 2 Membrane NA NA NA NA NA PE1 19 +NX_C9JJ37 BTB/POZ domain-containing protein 19 291 32365 6.21 0 Cytosol NA NA NA NA NA PE1 1 +NX_C9JJH3 Ubiquitin carboxyl-terminal hydrolase 17-like protein 10 530 59886 8.46 0 Endoplasmic reticulum;Nucleus NA Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection. NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE3 4 +NX_C9JL84 HERV-H LTR-associating protein 1 531 58297 9.11 0 Secreted NA NA NA NA NA PE2 8 +NX_C9JLJ4 Ubiquitin carboxyl-terminal hydrolase 17-like protein 13 530 59694 8.22 0 Endoplasmic reticulum;Nucleus NA Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection. NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE3 4 +NX_C9JLR9 Uncharacterized protein C11orf95 678 73197 5.82 0 Cytoskeleton NA NA NA NA NA PE1 11 +NX_C9JLW8 Mapk-regulated corepressor-interacting protein 1 97 10920 9.39 0 Cytosol;Stress granule;Nucleus NA The phosphorylation status of MCRIP1 functions as a molecular switch to regulate epithelial-mesenchymal transition. Unphosphorylated MCRIP1 binds to and inhibits the transcriptional corepressor CTBP(s). When phosphorylated by MAPK/ERK, MCRIP1 releases CTBP(s) resulting in transcriptional silencing of the E-cadherin gene and induction of epithelial-mesenchymal transition (PubMed:25728771). Phosphorylation by MAPK3/1 (ERK1/2) regulates MCRIP1 binding to CTBP(s) (PubMed:25728771). Belongs to the MCRIP family. NA PE1 17 +NX_C9JN71 Zinc finger protein 878 531 61540 9.55 0 Nucleoplasm;Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_C9JPN9 Ubiquitin carboxyl-terminal hydrolase 17-like protein 12 530 59687 8.35 0 Endoplasmic reticulum;Nucleus NA Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection. NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE3 4 +NX_C9JQI7 Transmembrane protein 232 657 76453 8.29 2 Membrane NA NA NA NA NA PE2 5 +NX_C9JQL5 Putative dispanin subfamily A member 2d 133 14796 9.61 2 Membrane NA NA NA Belongs to the CD225/Dispanin family. NA PE5 12 +NX_C9JR72 Kelch repeat and BTB domain-containing protein 13 458 49485 5.47 0 Cytoplasm Nemaline myopathy 6 Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. Autoubiquitinated. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 15 +NX_C9JRZ8 Aldo-keto reductase family 1 member B15 316 36537 6.23 0 Cytosol;Mitochondrion NA Catalyzes the NADPH-dependent reduction of a variety of carbonyl substrates, like aromatic aldehydes, alkenals, ketones and alpha-dicarbonyl compounds (PubMed:26222439, PubMed:21276782). In addition, catalyzes the reduction of androgens and estrogens with high positional selectivity (shows 17-beta-hydroxysteroid dehydrogenase activity) as well as 3-keto-acyl-CoAs (PubMed:25577493). Displays strong enzymatic activity toward all-trans-retinal and 9-cis-retinal (PubMed:26222439). May play a physiological role in retinoid metabolism (PubMed:26222439).;No oxidoreductase activity observed with the tested substrates. NA Belongs to the aldo/keto reductase family. Estrogen biosynthesis PE1 7 +NX_C9JSJ3 Basic helix-loop-helix and HMG box domain-containing protein 1 638 70198 9.1 0 Nucleoplasm;Nucleus NA NA NA NA NA PE2 19 +NX_C9JTQ0 Ankyrin repeat domain-containing protein 63 380 39620 11.04 0 NA NA NA NA NA NA PE1 15 +NX_C9JUS6 Putative adrenomedullin-5-like protein 153 16532 9.48 0 Secreted NA Probable non-functional remnant of adrenomedullin-5. NA Belongs to the adrenomedullin family. NA PE2 19 +NX_C9JVI0 Ubiquitin carboxyl-terminal hydrolase 17-like protein 11 530 59630 8.22 0 Endoplasmic reticulum;Nucleus NA Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection. NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE2 4 +NX_C9JVW0 Putative transmembrane protein INAFM1 142 14668 10.69 1 Membrane NA NA NA NA NA PE1 19 +NX_C9JXX5 Uncharacterized protein C11orf94 98 10902 9.97 0 Secreted NA NA NA NA NA PE2 11 +NX_D3DTV9 Putative protein PRAC2 90 10428 12 0 Nucleus NA NA NA NA NA PE5 17 +NX_D3W0D1 Killer cell lectin-like receptor subfamily F member 2 207 24008 5.83 1 Cell membrane NA C-type lectin-like receptor involved in natural killer cell mediated cytotoxicity and cytokine secretion in keratinocytes via its interaction with CLEC2A. N-glycosylated. NA NA PE1 12 +NX_D6R901 Ubiquitin carboxyl-terminal hydrolase 17-like protein 21 530 59659 8.22 0 Endoplasmic reticulum;Nucleus NA Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection. NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE3 4 +NX_D6R9N7 Ubiquitin carboxyl-terminal hydrolase 17-like protein 18 530 59657 8.35 0 Endoplasmic reticulum;Nucleus NA Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection. NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE3 4 +NX_D6RA61 Ubiquitin carboxyl-terminal hydrolase 17-like protein 22 530 59671 8.35 0 Endoplasmic reticulum;Nucleus NA Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection. NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE3 4 +NX_D6RBM5 Putative ubiquitin carboxyl-terminal hydrolase 17-like protein 23 183 20302 7.13 0 Endoplasmic reticulum;Nucleus NA NA NA Belongs to the peptidase C19 family. USP17 subfamily. NA PE5 4 +NX_D6RBQ6 Ubiquitin carboxyl-terminal hydrolase 17-like protein 17 530 59627 8.22 0 Endoplasmic reticulum;Nucleus NA Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection. NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE2 4 +NX_D6RCP7 Ubiquitin carboxyl-terminal hydrolase 17-like protein 19 530 59658 8.35 0 Endoplasmic reticulum;Nucleus NA Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection. NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE3 4 +NX_D6REC4 Cilia- and flagella-associated protein 99 459 52293 10.55 0 Flagellum NA NA NA Belongs to the CFAP99 family. NA PE1 4 +NX_D6RF30 Golgin subfamily A member 8K 607 68878 8.64 0 NA NA NA NA Belongs to the GOLGA8 family. NA PE2 15 +NX_D6RGH6 Multicilin 385 41720 5.62 0 Nucleus NA Transcription regulator specifically required for multiciliate cell differentiation. Acts in a multiprotein complex containing E2F4 and E2F5 that binds and activates genes required for centriole biogenesis. Required for the deuterosome-mediated acentriolar pathway (PubMed:25048963). Plays a role in mitotic cell cycle progression by promoting cell cycle exit. Modulates GMNN activity by reducing its affinity for CDT1 (PubMed:21543332, PubMed:24064211). NA Belongs to the geminin family. NA PE1 5 +NX_D6RGX4 Putative protein FAM90A26 464 49883 9.82 0 NA NA NA NA Belongs to the FAM90 family. NA PE5 4 +NX_D6RIA3 Uncharacterized protein C4orf54 1793 190074 9.11 0 NA NA NA NA NA NA PE1 4 +NX_D6RJB6 Ubiquitin carboxyl-terminal hydrolase 17-like protein 20 530 59626 8.22 0 Endoplasmic reticulum;Nucleus NA Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection. NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE3 4 +NX_E0CX11 Short transmembrane mitochondrial protein 1 47 5265 9.1 1 Mitochondrion membrane;Mitochondrion NA NA NA Belongs to the STMP1 family. NA PE1 7 +NX_E2RYF6 Mucin-22 1773 173478 3.9 1 Membrane NA NA NA NA NA PE1 6 +NX_E2RYF7 Protein PBMUCL2 251 26282 4.36 0 Secreted NA NA NA NA NA PE2 6 +NX_E5RG02 Putative serine protease 46 174 19341 9.32 0 NA NA NA NA Belongs to the peptidase S1 family. NA PE3 3 +NX_E5RHQ5 Nuclear pore complex-interacting protein family member B11 1161 129208 10.06 1 Membrane NA NA NA Belongs to the NPIP family. NA PE2 16 +NX_E5RIL1 Uroplakin-3b-like protein 2 263 28385 8.4 1 Membrane NA NA NA Belongs to the uroplakin-3 family. NA PE1 7 +NX_E5RJ46 Uncharacterized protein C8orf87 101 11413 11.36 0 NA NA NA NA NA NA PE4 8 +NX_E5RJM6 Ankyrin repeat domain-containing protein 65 399 41497 6.09 0 Nucleoplasm NA NA NA NA NA PE1 1 +NX_E5RQL4 Formiminotransferase N-terminal subdomain-containing protein 147 16268 9.21 0 Cytoplasmic vesicle NA NA NA Belongs to the formiminotransferase family. NA PE2 2 +NX_E7ERA6 RING finger protein 223 249 26629 9.43 1 Membrane NA NA NA NA NA PE1 1 +NX_E7ETH6 Zinc finger protein 587B 402 45541 8.73 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_E7EU14 Protein PPP5D1 171 19623 9.4 0 Cytosol NA NA NA Belongs to the PPP phosphatase family. PP-5 (PP-T) subfamily. NA PE1 19 +NX_E7EW31 Proline-rich basic protein 1 1015 106917 9.68 0 Nucleoplasm NA NA NA NA NA PE1 5 +NX_E9PAV3 Nascent polypeptide-associated complex subunit alpha, muscle-specific form 2078 205422 9.6 0 Cytoplasm;Nucleus NA Cardiac- and muscle-specific transcription factor. May act to regulate the expression of genes involved in the development of myotubes. Plays a critical role in ventricular cardiomyocyte expansion and regulates postnatal skeletal muscle growth and regeneration. Involved in the organized assembly of thick and thin filaments of myofibril sarcomeres (By similarity). NA NA NA PE1 12 +NX_E9PB15 Putative protein PTGES3L 166 19074 4.81 0 NA NA NA NA Belongs to the p23/wos2 family. NA PE5 17 +NX_E9PGG2 Anomalous homeobox protein 379 41695 5.25 0 Nucleus NA NA NA NA NA PE1 12 +NX_E9PI22 Proline-rich protein 23D1 279 31050 6.08 0 NA NA NA NA Belongs to the PRR23 family. NA PE2 8 +NX_E9PIF3 Nuclear pore complex-interacting protein family member A2 369 42223 9.62 0 NA NA NA NA Belongs to the NPIP family. NA PE2 16 +NX_E9PJ23 Nuclear pore complex-interacting protein family member B6 425 49162 10.38 0 NA NA NA NA Belongs to the NPIP family. NA PE1 16 +NX_E9PJI5 Nuclear pore complex-interacting protein family member A7 369 42230 9.22 0 NA NA NA NA Belongs to the NPIP family. NA PE1 16 +NX_E9PKD4 Nuclear pore complex-interacting protein family member A5 350 40105 9.48 0 NA NA NA NA Belongs to the NPIP family. NA PE2 16 +NX_E9PQ53 NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2 114 13408 8.47 1 Mitochondrion inner membrane NA Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). NA Belongs to the complex I NDUFC2 subunit family. NA PE1 11 +NX_E9PQR5 Nuclear pore complex-interacting protein family member B8 432 49617 10.15 0 NA NA NA NA Belongs to the NPIP family. NA PE2 16 +NX_E9PQX1 Transmembrane protein 262 116 13758 6.11 3 Membrane NA NA NA NA NA PE2 11 +NX_E9PRG8 Uncharacterized protein C11orf98 123 14234 11.53 0 NA NA NA NA NA NA PE1 11 +NX_F2Z333 Fibronectin type III domain-containing protein 10 226 24218 9.11 1 Membrane NA NA NA NA NA PE1 1 +NX_F2Z398 LMO7 downstream neighbor protein 122 13273 5 0 NA NA NA NA NA NA PE2 13 +NX_F2Z3F1 Uncharacterized protein C5orf67 127 14123 9.23 0 NA NA NA NA NA NA PE2 5 +NX_F2Z3M2 Uncharacterized protein C17orf112 114 12668 5.7 0 NA NA NA NA NA NA PE4 17 +NX_F5GYI3 Ubiquitin-associated protein 1-like 381 40592 5.37 0 Nucleus NA NA NA NA NA PE2 15 +NX_F5H284 Peptidyl-prolyl cis-trans isomerase A-like 4D 164 18167 9.43 0 Cytoplasm NA PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity). NA Belongs to the cyclophilin-type PPIase family. PPIase A subfamily. NA PE2 1 +NX_F5H4A9 Uncharacterized membrane protein C3orf80 247 25682 5.51 1 Membrane NA NA NA NA NA PE1 3 +NX_F5H4B4 Protein FAM227A 570 66188 9.39 0 Nucleoplasm NA NA NA Belongs to the FAM227 family. NA PE1 22 +NX_F7VJQ1 Alternative prion protein 73 8691 9.24 1 Mitochondrion outer membrane NA NA NA NA NA PE1 20 +NX_F8VTS6 Ret finger protein-like 4A-like protein 1 287 32249 7.47 0 NA NA NA NA NA NA PE2 19 +NX_F8W1W9 Nuclear pore complex-interacting protein family member B9 429 49181 10.44 0 NA NA NA NA Belongs to the NPIP family. NA PE2 16 +NX_F8WBI6 Golgin subfamily A member 8N 632 71524 5.93 0 NA NA NA NA Belongs to the GOLGA8 family. NA PE2 15 +NX_F8WCM5 Insulin, isoform 2 200 21537 5.93 0 NA NA NA NA NA NA PE1 11 +NX_F8WFD2 Nuclear pore complex-interacting protein family member A3 350 40061 9.48 0 NA NA NA NA Belongs to the NPIP family. NA PE2 16 +NX_G2XKQ0 Small ubiquitin-related modifier 5 101 11526 5.33 0 Nucleus NA Ubiquitin-like protein that can be covalently attached to proteins as a monomer or as a lysine-linked polymer. Regulates the life cycle of promyelocytic leukemia nuclear bodies (PML-NBs). PolySUMO1P1/SUMO5 conjugation on 'Lys-160' of PML facilitates recruitment of PML-NB components, which enlarges PML-NB. SUMO1P1/SUMO5 also increases polySUMO2/3 conjugation of PML, resulting in RNF4-mediated disruption of PML-NBs. Autosumoylated at Lys-18.;Cleavage of precursor form is necessary for function. Belongs to the ubiquitin family. SUMO subfamily. NA PE1 20 +NX_G3V0H7 Putative solute carrier organic anion transporter family member 1B7 640 71247 8.8 11 Cell membrane NA NA NA Belongs to the organo anion transporter (TC 2.A.60) family. NA PE5 12 +NX_G3V211 Uncharacterized protein encoded by LINC01619 115 13510 9.43 0 NA NA NA NA NA NA PE5 12 +NX_G9CGD6 CNK3/IPCEF1 fusion protein 899 100365 8.55 0 NA NA Required for hepatocyte growth factor (HGF)-dependent activation of Arf6 and HGF-stimulated cell migration. NA Belongs to the CNKSR family. NA PE1 6 +NX_H0UI37 Thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 3 97 11268 5.43 0 NA NA NA NA NA NA PE2 6 +NX_H0Y354 Protein FAM72C 149 16730 6.27 0 NA NA NA NA Belongs to the FAM72 family. NA PE2 1 +NX_H0Y7S4 Putative PRAME family member 26 382 44302 8.65 0 NA NA NA NA Belongs to the PRAME family. NA PE5 1 +NX_H0YKK7 Putative golgin subfamily A member 6-like protein 19 550 64493 4.78 0 NA NA NA NA Belongs to the GOLGA6 family. NA PE5 15 +NX_H0YL09 Putative ubiquitin-conjugating enzyme E2Q2-like protein 131 14853 5.27 0 NA NA NA NA Belongs to the ubiquitin-conjugating enzyme family. NA PE5 15 +NX_H0YL14 Transmembrane protein 250 139 16083 10.48 2 Membrane;Cytoplasm;Nucleoplasm;Nucleus NA (Microbial infection) Promotes human herpes simplex virus 1/HHV-1 proliferation.;May play a role in cell proliferation by promoting progression into S phase. NA NA NA PE1 9 +NX_H0YM25 Golgin subfamily A member 6-like protein 22 810 102665 4.95 0 NA NA NA NA Belongs to the GOLGA6 family. NA PE1 15 +NX_H3BMG3 Small lysine-rich protein 1 65 7091 10.3 0 Nucleolus NA NA NA NA NA PE2 7 +NX_H3BN30 Uncharacterized protein C16orf97 126 14216 9.41 0 NA NA NA NA NA NA PE2 16 +NX_H3BNL1 Uncharacterized protein C3orf84 204 23376 9.32 0 NA NA NA NA NA NA PE1 3 +NX_H3BNL8 Armadillo-like helical domain-containing protein 2 230 26547 9.09 0 NA NA NA NA NA NA PE1 6 +NX_H3BPF8 Golgin subfamily A member 8S 625 70417 7.67 0 NA NA NA NA Belongs to the GOLGA8 family. NA PE2 15 +NX_H3BPM6 MKRN2 opposite strand protein 223 25451 5.83 0 Golgi apparatus NA NA NA NA NA PE2 3 +NX_H3BQB6 Stathmin domain-containing protein 1 276 30984 8.61 0 Cytoskeleton NA NA NA NA NA PE1 6 +NX_H3BQJ8 Lymphocyte antigen 6L 138 15317 9.07 0 Cell membrane NA NA NA NA NA PE2 8 +NX_H3BQL2 Golgin subfamily A member 8T 631 71644 7.69 0 NA NA NA NA Belongs to the GOLGA8 family. NA PE2 15 +NX_H3BQW9 Protein FAM229A 127 12972 7.75 0 NA NA NA NA Belongs to the FAM229 family. NA PE2 1 +NX_H3BR10 Small leucine-rich protein 1 107 12312 10.43 2 Membrane NA NA NA NA NA PE1 6 +NX_H3BRN8 Uncharacterized protein C15orf65 121 13763 8.49 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 15 +NX_H3BS89 Transmembrane protein 178B 294 33409 9.45 3 Membrane;Cytoplasmic vesicle;Nucleolus NA NA NA Belongs to the TMEM178 family. NA PE1 7 +NX_H3BSY2 Golgin subfamily A member 8M 632 71498 6.65 0 NA NA NA NA Belongs to the GOLGA8 family. NA PE2 15 +NX_H3BTG2 Testis-expressed protein 46 121 14053 9.86 0 NA NA NA NA NA NA PE1 1 +NX_H3BU77 Coiled-coil domain-containing protein 179 68 8104 9.78 0 NA NA NA NA NA NA PE2 11 +NX_H3BUK9 POTE ankyrin domain family member B2 544 61708 5.75 0 NA NA NA NA Belongs to the POTE family. NA PE1 15 +NX_H3BV12 Golgin subfamily A member 8Q 632 71646 5.98 0 NA NA NA NA Belongs to the GOLGA8 family. NA PE2 15 +NX_H3BV60 Transforming growth factor-beta receptor type 3-like protein 316 32819 11.72 1 Membrane;Cytoplasmic vesicle NA NA NA NA NA PE1 19 +NX_H7BZ55 Putative ciliary rootlet coiled-coil protein 2 1655 185872 5.42 0 NA NA NA NA Belongs to the rootletin family. NA PE5 2 +NX_H7C241 Claudin-34 214 24226 8.21 4 Tight junction;Cell membrane NA Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. NA Belongs to the claudin family. NA PE2 X +NX_H7C350 Coiled-coil domain-containing protein 188 402 43548 8.61 1 Membrane;Nucleoplasm;Nucleus NA NA NA NA NA PE1 22 +NX_I0J062 Proapoptotic nucleolar protein 1 215 22842 12.21 0 Nucleolus NA Apoptosis-inducing protein that modulates the tumor suppressor function of CDKN2A/p14ARF. Enhances the stability of CDKN2A/p14ARF protein by protecting it from degradation. May act as a tumor suppressor (PubMed:22094112). NA NA NA PE2 11 +NX_I1YAP6 Tripartite motif-containing protein 77 450 52450 8.59 0 NA NA NA NA Belongs to the TRIM/RBCC family. NA PE2 11 +NX_I3L0S3 Putative uncharacterized protein PYCARD-AS1 204 21949 11.32 0 NA NA NA NA NA NA PE5 16 +NX_I3L1E1 Uncharacterized protein C19orf84 186 19614 6.96 0 Cytoplasmic vesicle NA NA NA NA NA PE1 19 +NX_I3L273 Golgi-associated olfactory signaling regulator 518 56104 5.64 1 Golgi apparatus membrane NA Required for proper function of the olfactory system. May be involved in establishing the acuity of olfactory sensory signaling (By similarity). NA NA NA PE1 19 +NX_I3L3R5 Coiled-coil domain-containing glutamate-rich protein 2 266 30352 5.22 0 Secreted NA NA NA NA NA PE1 19 +NX_I6L899 Golgin subfamily A member 8R 631 71490 5.98 0 NA NA NA NA Belongs to the GOLGA8 family. NA PE1 15 +NX_J3KSC0 Putative uncharacterized protein encoded by LINC01387 135 14903 7.65 0 NA NA NA NA NA NA PE5 18 +NX_K7EIQ3 Uncharacterized protein ZNF561-AS1 104 11601 8.99 0 NA NA NA NA NA NA PE4 19 +NX_K7EJ46 Small integral membrane protein 22 83 9249 6.05 1 Membrane;Nucleoplasm;Cytosol;Late endosome NA May modulate lipid droplet formation throught interaction with SQLE. NA NA NA PE1 16 +NX_K9M1U5 Interferon lambda-4 179 19675 11.29 0 Cytoplasm;Secreted NA Cytokine that may trigger an antiviral response activating the JAK-STAT pathway and up-regulating specifically some interferon-stimulated genes. NA Belongs to the lambda interferon family. NA PE1 19 +NX_L0R6Q1 SLC35A4 upstream open reading frame protein 103 11133 7.81 1 Membrane NA NA NA NA NA PE1 5 +NX_L0R819 ASNSD1 upstream open reading frame protein 96 11250 8.83 0 Cytoplasm NA NA NA NA NA PE1 2 +NX_L0R8F8 MIEF1 upstream open reading frame protein 70 8445 10.59 0 Mitochondrion matrix NA Involved in the regulation of mitochondrial fission mediated by DNM1L (PubMed:29083303). Positively regulates mitochondrial translation (PubMed:30215512). May play a role in ribosome biogenesis by preventing premature association of the 28S and 39S ribosomal subunits (Probable). NA Belongs to the complex I LYR family. NA PE1 22 +NX_M0QZC1 RING finger protein 225 329 34789 9.43 1 Membrane NA NA NA NA NA PE2 19 +NX_M0R2J8 Doublecortin domain-containing protein 1 1783 200591 9.04 0 Spindle;Midbody;Midbody ring NA Microtubule-binding protein which plays an important role in mediating dynein-dependent transport of RAB8A-positive vesicles to the midbody during cytokinesis (PubMed:22159412). NA NA NA PE1 11 +NX_M5A8F1 Suppressyn 160 18128 9.24 0 Secreted NA May play a role in trophoblasts syncytialization, the spontaneous fusion of their plasma membranes, an essential process in placental development. May negatively regulate cell-cell fusion by interacting with SLC1A5, the probable receptor on the cell surface of the fusogenic syncytin-1/ERVW-1. NA NA NA PE1 21 +NX_O00110 Putative transcription factor ovo-like protein 3 214 23826 10.2 0 Nucleus NA May act as a transcription regulator. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE2 19 +NX_O00115 Deoxyribonuclease-2-alpha 360 39581 8.3 0 Lysosome NA Hydrolyzes DNA under acidic conditions with a preference for double-stranded DNA. Plays a major role in the degradation of nuclear DNA in cellular apoptosis during development. Necessary for proper fetal development and for definitive erythropoiesis in fetal liver, where it degrades nuclear DNA expelled from erythroid precursor cells. Glycosylated. Mutations that eliminate N-glycosylation sites reduce activity, but enzymatic deglycosylation has no effect. Belongs to the DNase II family. Lysosome;Lysosome Vesicle Biogenesis PE1 19 +NX_O00116 Alkyldihydroxyacetonephosphate synthase, peroxisomal 658 72912 6.99 0 Peroxisome;Peroxisome membrane Rhizomelic chondrodysplasia punctata 3 Catalyzes the exchange of the acyl chain in acyl-dihydroxyacetonephosphate (acyl-DHAP) for a long chain fatty alcohol, yielding the first ether linked intermediate, i.e. Alkyl-dihydroxyacetonephosphate (alkyl-DHAP), in the pathway of ether lipid biosynthesis. NA Belongs to the FAD-binding oxidoreductase/transferase type 4 family. Glycerolipid metabolism; ether lipid biosynthesis.;Ether lipid metabolism;Metabolic pathways;Peroxisome;Plasmalogen biosynthesis;Peroxisomal protein import;TYSND1 cleaves peroxisomal proteins PE1 2 +NX_O00124 UBX domain-containing protein 8 270 30541 7.63 2 Endoplasmic reticulum;Nucleoplasm;Endoplasmic reticulum membrane;Nucleolus NA Involved in endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins, possibly by tethering VCP to the endoplasmic reticulum membrane. May play a role in reproduction. NA NA NA PE1 8 +NX_O00139 Kinesin-like protein KIF2A 706 79955 6.28 0 Cytoplasm;Nucleolus;Nucleoplasm;Spindle pole;Centrosome;Spindle Cortical dysplasia, complex, with other brain malformations 3 Plus end-directed microtubule-dependent motor required for normal brain development. May regulate microtubule dynamics during axonal growth. Required for normal progression through mitosis. Required for normal congress of chromosomes at the metaphase plate. Required for normal spindle dynamics during mitosis. Promotes spindle turnover. Implicated in formation of bipolar mitotic spindles. Has microtubule depolymerization activity. KIF2A is phosphorylated by AURKA (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);KIF2A is phosphorylated by PLK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. MCAK/KIF2 subfamily. Separation of Sister Chromatids;MHC class II antigen presentation;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;COPI-dependent Golgi-to-ER retrograde traffic PE1 5 +NX_O00141 Serine/threonine-protein kinase Sgk1 431 48942 8.7 0 Cytoplasm;Endoplasmic reticulum membrane;Mitochondrion;Nucleus speckle;Cell membrane;Nucleus NA Exhibited a greater effect on cell plasma membrane expression of SCNN1A/ENAC and Na(+) transport than isoform 1.;Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cellular enzymes, transcription factors, neuronal excitability, cell growth, proliferation, survival, migration and apoptosis. Plays an important role in cellular stress response. Contributes to regulation of renal Na(+) retention, renal K(+) elimination, salt appetite, gastric acid secretion, intestinal Na(+)/H(+) exchange and nutrient transport, insulin-dependent salt sensitivity of blood pressure, salt sensitivity of peripheral glucose uptake, cardiac repolarization and memory consolidation. Up-regulates Na(+) channels: SCNN1A/ENAC, SCN5A and ASIC1/ACCN2, K(+) channels: KCNJ1/ROMK1, KCNA1-5, KCNQ1-5 and KCNE1, epithelial Ca(2+) channels: TRPV5 and TRPV6, chloride channels: BSND, CLCN2 and CFTR, glutamate transporters: SLC1A3/EAAT1, SLC1A2 /EAAT2, SLC1A1/EAAT3, SLC1A6/EAAT4 and SLC1A7/EAAT5, amino acid transporters: SLC1A5/ASCT2, SLC38A1/SN1 and SLC6A19, creatine transporter: SLC6A8, Na(+)/dicarboxylate cotransporter: SLC13A2/NADC1, Na(+)-dependent phosphate cotransporter: SLC34A2/NAPI-2B, glutamate receptor: GRIK2/GLUR6. Up-regulates carriers: SLC9A3/NHE3, SLC12A1/NKCC2, SLC12A3/NCC, SLC5A3/SMIT, SLC2A1/GLUT1, SLC5A1/SGLT1 and SLC15A2/PEPT2. Regulates enzymes: GSK3A/B, PMM2 and Na(+)/K(+) ATPase, and transcription factors: CTNNB1 and nuclear factor NF-kappa-B. Stimulates sodium transport into epithelial cells by enhancing the stability and expression of SCNN1A/ENAC. This is achieved by phosphorylating the NEDD4L ubiquitin E3 ligase, promoting its interaction with 14-3-3 proteins, thereby preventing it from binding to SCNN1A/ENAC and targeting it for degradation. Regulates store-operated Ca(+2) entry (SOCE) by stimulating ORAI1 and STIM1. Regulates KCNJ1/ROMK1 directly via its phosphorylation or indirectly via increased interaction with SLC9A3R2/NHERF2. Phosphorylates MDM2 and activates MDM2-dependent ubiquitination of p53/TP53. Phosphorylates MAPT/TAU and mediates microtubule depolymerization and neurite formation in hippocampal neurons. Phosphorylates SLC2A4/GLUT4 and up-regulates its activity. Phosphorylates APBB1/FE65 and promotes its localization to the nucleus. Phosphorylates MAPK1/ERK2 and activates it by enhancing its interaction with MAP2K1/MEK1 and MAP2K2/MEK2. Phosphorylates FBXW7 and plays an inhibitory role in the NOTCH1 signaling. Phosphorylates FOXO1 resulting in its relocalization from the nucleus to the cytoplasm. Phosphorylates FOXO3, promoting its exit from the nucleus and interference with FOXO3-dependent transcription. Phosphorylates BRAF and MAP3K3/MEKK3 and inhibits their activity. Phosphorylates SLC9A3/NHE3 in response to dexamethasone, resulting in its activation and increased localization at the cell membrane. Phosphorylates CREB1. Necessary for vascular remodeling during angiogenesis. Sustained high levels and activity may contribute to conditions such as hypertension and diabetic nephropathy. Shows enhanced stability.;Ubiquitinated by NEDD4L; which promotes proteasomal degradation. Ubiquitinated by SYVN1 at the endoplasmic reticulum; which promotes rapid proteasomal degradation and maintains a high turnover rate in resting cells.;Regulated by phosphorylation. Activated by phosphorylation on Ser-422 by mTORC2, transforming it into a substrate for PDPK1 which phosphorylates it on Thr-256. Phosphorylation on Ser-397 and Ser-401 are also essential for its activity. Phosphorylation on Ser-78 by MAPK7 is required for growth factor-induced cell cycle progression. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. Aldosterone-regulated sodium reabsorption;Stimuli-sensing channels;Regulation of TP53 Degradation;Transcriptional Regulation by MECP2 PE1 6 +NX_O00142 Thymidine kinase 2, mitochondrial 265 31005 8.71 0 Mitochondrion Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3;Mitochondrial DNA depletion syndrome 2 Phosphorylates thymidine, deoxycytidine, and deoxyuridine in the mitochondrial matrix. In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on TK2 and DGUOK. Widely used as target of antiviral and chemotherapeutic agents. NA Belongs to the DCK/DGK family. Pyrimidine metabolism;Drug metabolism - other enzymes;Metabolic pathways;Pyrimidine salvage PE1 16 +NX_O00144 Frizzled-9 591 64466 8.63 7 Cell membrane NA Receptor for WNT2 that is coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (By similarity). Plays a role in neuromuscular junction (NMJ) assembly by negatively regulating the clustering of acetylcholine receptors (AChR) through the beta-catenin canonical signaling pathway (By similarity). May play a role in neural progenitor cells (NPCs) viability through the beta-catenin canonical signaling pathway by negatively regulating cell cycle arrest leading to inhibition of neuron apoptotic process (PubMed:27509850). During hippocampal development, regulates neuroblast proliferation and apoptotic cell death. Controls bone formation through non canonical Wnt signaling mediated via ISG15. Positively regulates bone regeneration through non canonical Wnt signaling (By similarity). Ubiquitinated by ZNRF3, leading to its degradation by the proteasome. Belongs to the G-protein coupled receptor Fz/Smo family. Wnt signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;Class B/2 (Secretin family receptors) PE1 7 +NX_O00148 ATP-dependent RNA helicase DDX39A 427 49130 5.46 0 Cytoplasm;Nucleus NA Involved in pre-mRNA splicing. Required for the export of mRNA out of the nucleus. NA Belongs to the DEAD box helicase family. DECD subfamily. Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 19 +NX_O00151 PDZ and LIM domain protein 1 329 36072 6.56 0 Cytoplasm;Cell membrane;Cell junction;Z line;Cytoskeleton NA Cytoskeletal protein that may act as an adapter that brings other proteins (like kinases) to the cytoskeleton (PubMed:10861853). Involved in assembly, disassembly and directioning of stress fibers in fibroblasts. Required for the localization of ACTN1 and PALLD to stress fibers. Required for cell migration and in maintaining cell polarity of fibroblasts (By similarity). NA NA NA PE1 10 +NX_O00154 Cytosolic acyl coenzyme A thioester hydrolase 380 41796 8.85 0 Nucleoplasm;Cytoplasm;Cytosol;Mitochondrion NA Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH (PubMed:10578051). Acyl-coenzyme A thioesterase 7/ACOT7 preferentially hydrolyzes palmitoyl-CoA, but has a broad specificity acting on other fatty acyl-CoAs with chain-lengths of C8-C18 (PubMed:10578051). May play an important physiological function in brain (PubMed:10578051). NA NA Lipid metabolism; fatty acid metabolism.;Fatty acid elongation;Biosynthesis of unsaturated fatty acids;Mitochondrial Fatty Acid Beta-Oxidation PE1 1 +NX_O00155 Probable G-protein coupled receptor 25 361 38779 9.56 7 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. G alpha (s) signalling events PE1 1 +NX_O00159 Unconventional myosin-Ic 1063 121682 9.46 0 Cytoplasm;Nuclear pore complex;Cell membrane;Stereocilium membrane;Nucleolus;Nucleoplasm;Ruffle;Cytoplasmic vesicle;Nucleus NA Is involved in regulation of transcription. Associated with transcriptional active ribosomal genes. Appears to cooperate with the WICH chromatin-remodeling complex to facilitate transcription. Necessary for the formation of the first phosphodiester bond during transcription initiation (By similarity).;Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Involved in glucose transporter recycling in response to insulin by regulating movement of intracellular GLUT4-containing vesicles to the plasma membrane. Component of the hair cell's (the sensory cells of the inner ear) adaptation-motor complex. Acts as a mediator of adaptation of mechanoelectrical transduction in stereocilia of vestibular hair cells. Binds phosphoinositides and links the actin cytoskeleton to cellular membranes. Contains a N-acetylmethionine at position 1. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Regulation of actin dynamics for phagocytic cup formation;Translocation of SLC2A4 (GLUT4) to the plasma membrane;B-WICH complex positively regulates rRNA expression PE1 17 +NX_O00160 Unconventional myosin-If 1098 124844 9.21 0 NA NA Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. NA PE1 19 +NX_O00161 Synaptosomal-associated protein 23 211 23354 4.89 0 Synaptosome;Cell membrane NA Essential component of the high affinity receptor for the general membrane fusion machinery and an important regulator of transport vesicle docking and fusion. NA Belongs to the SNAP-25 family. SNARE interactions in vesicular transport;ER-Phagosome pathway;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Neutrophil degranulation;trans-Golgi Network Vesicle Budding PE1 15 +NX_O00165 HCLS1-associated protein X-1 279 31621 4.76 0 Cytoplasm;Cell cortex;Mitochondrion;Cell membrane;Nucleus membrane;Sarcoplasmic reticulum;Endoplasmic reticulum;P-body;Cytoplasmic vesicle;Nucleus Neutropenia, severe congenital 3, autosomal recessive Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex (PubMed:26997484). Slows down the rate of inactivation of KCNC3 channels (PubMed:26997484). Promotes GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. Promotes cell survival. May regulate intracellular calcium pools. Proteolytically cleaved by caspase-3 during apoptosis. Belongs to the HAX1 family. NA PE1 1 +NX_O00167 Eyes absent homolog 2 538 59232 6.02 0 Cytoplasm;Cytosol;Nucleus NA Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (PubMed:12500905, PubMed:23435380). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19351884). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis. Plays an important role in hypaxial muscle development together with SIX1 and DACH2; in this it is functionally redundant with EYA1 (PubMed:12500905). NA Belongs to the HAD-like hydrolase superfamily. EYA family. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks PE1 20 +NX_O00168 Phospholemman 92 10441 9.35 1 T-tubule;Apical cell membrane;Nucleolus;Nucleoplasm;Caveola;Cytosol;Sarcolemma NA Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell. Inhibits NKA activity in its unphosphorylated state and stimulates activity when phosphorylated. Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1. Contributes to female sexual development by maintaining the excitability of neurons which secrete gonadotropin-releasing hormone. Palmitoylation increases half-life and stability and is enhanced upon phosphorylation at Ser-88 by PKA.;Major plasma membrane substrate for cAMP-dependent protein kinase (PKA) and protein kinase C (PKC) in several different tissues (By similarity). Phosphorylated in response to insulin and adrenergic stimulation (By similarity). Phosphorylation at Ser-88 stimulates sodium/potassium-transporting ATPase activity while the unphosphorylated form inhibits sodium/potassium-transporting ATPase activity (By similarity). Phosphorylation increases tetramerization, decreases binding to ATP1A1 and reduces inhibition of ATP1A1 activity (By similarity). Phosphorylation at Ser-83 leads to greatly reduced interaction with ATP1A1, ATP1A2 and ATP1A3 (By similarity). May be phosphorylated by DMPK (PubMed:10811636).;FXYD1 is phosphorylated by DMPK Belongs to the FXYD family. Ion transport by P-type ATPases;Ion homeostasis PE1 19 +NX_O00170 AH receptor-interacting protein 330 37636 5.88 0 Cytoplasm;Cytosol Prolactin-secreting pituitary adenoma;Pituitary adenoma 1, multiple types Cellular negative regulator of the hepatitis B virus (HBV) X protein.;May play a positive role in AHR-mediated (aromatic hydrocarbon receptor) signaling, possibly by influencing its receptivity for ligand and/or its nuclear targeting. NA NA Aryl hydrocarbon receptor signalling;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 11 +NX_O00175 C-C motif chemokine 24 119 13134 10 0 Secreted NA Chemotactic for resting T-lymphocytes, and eosinophils. Has lower chemotactic activity for neutrophils but none for monocytes and activated lymphocytes. Is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. Binds to CCR3. N-glycosylated. Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway PE1 7 +NX_O00178 GTP-binding protein 1 669 72454 8.6 0 Golgi apparatus;Cytoplasm;Cytosol;Nucleus NA Promotes degradation of target mRNA species. Plays a role in the regulation of circadian mRNA stability. Binds GTP and has GTPase activity (By similarity). NA Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. GTPBP1 subfamily. NA PE1 22 +NX_O00180 Potassium channel subfamily K member 1 336 38143 5.94 4 Cell membrane;Recycling endosome;Perikaryon;Cell projection;Synapse;Cytoplasmic vesicle;Apical cell membrane;Dendrite NA Ion channel that contributes to passive transmembrane potassium transport and to the regulation of the resting membrane potential in brain astrocytes, but also in kidney and in other tissues (PubMed:15820677, PubMed:21653227). Forms dimeric channels through which potassium ions pass in accordance with their electrochemical gradient. The channel is selective for K(+) ions at physiological potassium concentrations and at neutral pH, but becomes permeable to Na(+) at subphysiological K(+) levels and upon acidification of the extracellular medium (PubMed:21653227, PubMed:22431633). The homodimer has very low potassium channel activity, when expressed in heterologous systems, and can function as weakly inward rectifying potassium channel (PubMed:8605869, PubMed:8978667, PubMed:15820677, PubMed:21653227, PubMed:22431633, PubMed:23169818, PubMed:25001086). Channel activity is modulated by activation of serotonin receptors (By similarity). Heterodimeric channels containing KCNK1 and KCNK2 have much higher activity, and may represent the predominant form in astrocytes (By similarity). Heterodimeric channels containing KCNK1 and KCNK3 or KCNK9 have much higher activity (PubMed:23169818). Heterodimeric channels formed by KCNK1 and KCNK9 may contribute to halothane-sensitive currents (PubMed:23169818). Mediates outward rectifying potassium currents in dentate gyrus granule cells and contributes to the regulation of their resting membrane potential (By similarity). Contributes to the regulation of action potential firing in dentate gyrus granule cells and down-regulates their intrinsic excitability (By similarity). In astrocytes, the heterodimer formed by KCNK1 and KCNK2 is required for rapid glutamate release in response to activation of G-protein coupled receptors, such as F2R and CNR1 (By similarity). Required for normal ion and water transport in the kidney (By similarity). Contributes to the regulation of the resting membrane potential of pancreatic beta cells (By similarity). The low channel activity of homodimeric KCNK1 may be due to sumoylation (PubMed:15820677, PubMed:20498050, PubMed:23169818). The low channel activity may be due to rapid internalization from the cell membrane and retention in recycling endosomes (PubMed:19959478). Sumoylation is controversial. Sumoylated by UBE2I (PubMed:15820677). Not sumoylated when expressed in xenopus oocytes or mammalian cells (PubMed:17693262). Sumoylation inactivates the channel, but does not interfere with expression at the cell membrane (PubMed:15820677). Sumoylation of a single subunit is sufficient to silence the dimeric channel (PubMed:20498050, PubMed:23169818). Sumoylation of KCNK1 is sufficient to silence heterodimeric channels formed by KCNK1 and KCNK3 or KCNK9 (PubMed:23169818). Desumoylated by SENP1; this activates the channel (PubMed:15820677, PubMed:20498050, PubMed:23169818). Desumoylated by SENP1; this strongly increases halothane-mediated activation of heterodimeric channels formed with KCNK9 (PubMed:23169818). SENP1 treatment has no effect (PubMed:17693262). Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK);Phase 4 - resting membrane potential PE1 1 +NX_O00182 Galectin-9 355 39518 9.34 0 Cytoplasm;Secreted;Nucleus NA Acts as an eosinophil chemoattractant (PubMed:9642261). It also inhibits angiogenesis (PubMed:24333696). Suppresses IFNG production by natural killer cells (By similarity).;Binds galactosides (PubMed:18005988). Has high affinity for the Forssman pentasaccharide (PubMed:18005988). Ligand for HAVCR2/TIM3 (PubMed:16286920). Binding to HAVCR2 induces T-helper type 1 lymphocyte (Th1) death (PubMed:16286920). Also stimulates bactericidal activity in infected macrophages by causing macrophage activation and IL1B secretion which restricts intracellular bacterial growth (By similarity). Ligand for P4HB; the interaction retains P4HB at the cell surface of Th2 T-helper cells, increasing disulfide reductase activity at the plasma membrane, altering the plasma membrane redox state and enhancing cell migration (PubMed:21670307). Ligand for CD44; the interaction enhances binding of SMAD3 to the FOXP3 promoter, leading to up-regulation of FOXP3 expression and increased induced regulatory T (iTreg) cell stability and suppressive function (By similarity). Promotes ability of mesenchymal stromal cells to suppress T-cell proliferation (PubMed:23817958). Expands regulatory T-cells and induces cytotoxic T-cell apoptosis following virus infection (PubMed:20209097). Activates ERK1/2 phosphorylation inducing cytokine (IL-6, IL-8, IL-12) and chemokine (CCL2) production in mast and dendritic cells (PubMed:24465902, PubMed:16116184). Inhibits degranulation and induces apoptosis of mast cells (PubMed:24465902). Induces maturation and migration of dendritic cells (PubMed:25754930, PubMed:16116184). Inhibits natural killer (NK) cell function (PubMed:23408620). Can transform NK cell phenotype from peripheral to decidual during pregnancy (PubMed:25578313). Astrocyte derived galectin-9 enhances microglial TNF production (By similarity). May play a role in thymocyte-epithelial interactions relevant to the biology of the thymus. May provide the molecular basis for urate flux across cell membranes, allowing urate that is formed during purine metabolism to efflux from cells and serving as an electrogenic transporter that plays an important role in renal and gastrointestinal urate excretion (By similarity). Highly selective to the anion urate (By similarity). NA NA Interleukin-2 family signaling PE1 17 +NX_O00186 Syntaxin-binding protein 3 592 67764 7.98 0 Nucleoplasm;Cytosol;Cell membrane NA Together with STX4 and VAMP2, may play a role in insulin-dependent movement of GLUT4 and in docking/fusion of intracellular GLUT4-containing vesicles with the cell surface in adipocytes. Phosphorylated by PKC in platelets in response to thrombin stimulation; phosphorylation inhibits binding to STX4. Belongs to the STXBP/unc-18/SEC1 family. Translocation of SLC2A4 (GLUT4) to the plasma membrane;Disinhibition of SNARE formation PE1 1 +NX_O00187 Mannan-binding lectin serine protease 2 686 75702 5.39 0 Golgi apparatus;Secreted MASP2 deficiency Serum protease that plays an important role in the activation of the complement system via mannose-binding lectin. After activation by auto-catalytic cleavage it cleaves C2 and C4, leading to their activation and to the formation of C3 convertase. The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.;Activated by cleavage after Arg-444. The uncleaved zymogen is inactive towards synthetic substrates, but has sufficient activity to effect autocatalytic cleavage. Belongs to the peptidase S1 family. Complement and coagulation cascades;Staphylococcus aureus infection;Initial triggering of complement;Lectin pathway of complement activation;Ficolins bind to repetitive carbohydrate structures on the target cell surface PE1 1 +NX_O00189 AP-4 complex subunit mu-1 453 49977 6.71 0 Early endosome;trans-Golgi network membrane Spastic paraplegia 50, autosomal recessive Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10436028, PubMed:11139587, PubMed:10066790, PubMed:11802162, PubMed:20230749). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system (PubMed:11139587, PubMed:20230749). It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons (By similarity). Within AP-4, the mu-type subunit AP4M1 is directly involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos (PubMed:10436028, PubMed:11139587, PubMed:26544806, PubMed:20230749). The adaptor protein complex 4 (AP-4) may also recognize other types of sorting signal (By similarity). NA Belongs to the adaptor complexes medium subunit family. Lysosome;Lysosome Vesicle Biogenesis PE1 7 +NX_O00192 Armadillo repeat protein deleted in velo-cardio-facial syndrome 962 104642 6.38 0 Cell junction;Cell membrane NA Involved in protein-protein interactions at adherens junctions. NA Belongs to the beta-catenin family. NA PE1 22 +NX_O00193 Small acidic protein 183 20333 4.57 0 Endoplasmic reticulum;Nucleoplasm NA NA NA Belongs to the SMAP family. NA PE1 11 +NX_O00194 Ras-related protein Rab-27B 218 24608 5.35 0 Golgi apparatus;Cell membrane;Membrane;Late endosome;Cytosol NA Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion (PubMed:30771381). Plays a role in NTRK2/TRKB axonal anterograde transport by facilitating the associaton of NTRK2/TRKB with KLC1 (PubMed:21775604). May be involved in targeting uroplakins to urothelial apical membranes (By similarity). NA Belongs to the small GTPase superfamily. Rab family. Pancreatic secretion;Platelet degranulation;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 18 +NX_O00198 Activator of apoptosis harakiri 91 9884 11.75 1 Membrane;Mitochondrion NA Promotes apoptosis. NA NA NA PE1 12 +NX_O00203 AP-3 complex subunit beta-1 1094 121320 5.75 0 Golgi apparatus;Nucleoplasm;Clathrin-coated vesicle membrane Hermansky-Pudlak syndrome 2 Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. Phosphorylated on serine residues. Belongs to the adaptor complexes large subunit family. Lysosome;Golgi Associated Vesicle Biogenesis;Signaling by BRAF and RAF fusions PE1 5 +NX_O00204 Sulfotransferase 2B1 365 41308 5.24 0 Cytoplasmic vesicle;Cytosol;Nucleus;Microsome Ichthyosis, congenital, autosomal recessive 14 Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation. Responsible for the sulfation of cholesterol (PubMed:19589875, PubMed:12145317). Catalyzes sulfation of the 3beta-hydroxyl groups of steroids, such as, pregnenolone and dehydroepiandrosterone (DHEA) (PubMed:9799594, PubMed:12145317, PubMed:21855633, PubMed:16855051). Preferentially sulfonates cholesterol, while it has also significant activity with pregnenolone and DHEA (PubMed:12145317, PubMed:21855633). Plays a role in epidermal cholesterol metabolism and in the regulation of epidermal proliferation and differentiation (PubMed:28575648).;Sulfonates pregnenolone but not cholesterol. Phosphorylated. Belongs to the sulfotransferase 1 family. Steroid hormone biosynthesis;Sulfur metabolism;Cytosolic sulfonation of small molecules PE1 19 +NX_O00206 Toll-like receptor 4 839 95680 5.88 1 Ruffle;Golgi apparatus;Early endosome;Cell membrane NA Cooperates with LY96 and CD14 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) (PubMed:27022195). Acts via MYD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:9237759, PubMed:10835634, PubMed:27022195). Also involved in LPS-independent inflammatory responses triggered by free fatty acids, such as palmitate, and Ni(2+). Responses triggered by Ni(2+) require non-conserved histidines and are, therefore, species-specific (PubMed:20711192). Both M.tuberculosis HSP70 (dnaK) and HSP65 (groEL-2) act via this protein to stimulate NF-kappa-B expression (PubMed:15809303). In complex with TLR6, promotes sterile inflammation in monocytes/macrophages in response to oxidized low-density lipoprotein (oxLDL) or amyloid-beta 42. In this context, the initial signal is provided by oxLDL- or amyloid-beta 42-binding to CD36. This event induces the formation of a heterodimer of TLR4 and TLR6, which is rapidly internalized and triggers inflammatory response, leading to the NF-kappa-B-dependent production of CXCL1, CXCL2 and CCL9 cytokines, via MYD88 signaling pathway, and CCL5 cytokine, via TICAM1 signaling pathway, as well as IL1B secretion. Binds electronegative LDL (LDL(-)) and mediates the cytokine release induced by LDL(-) (PubMed:23880187). Stimulation of monocytes in vitro with M.tuberculosis PstS1 induces p38 MAPK and ERK1/2 activation primarily via TLR2, but also partially via this receptor (PubMed:16622205). Phosphorylated on tyrosine residues by LYN after binding lipopolysaccharide.;N-glycosylated. Glycosylation of Asn-526 and Asn-575 seems to be necessary for the expression of TLR4 on the cell surface and the LPS-response. Likewise, mutants lacking two or more of the other N-glycosylation sites were deficient in interaction with LPS. Belongs to the Toll-like receptor family. Phagosome;Toll-like receptor signaling pathway;Pathogenic Escherichia coli infection;Salmonella infection;Pertussis;Legionellosis;Leishmaniasis;Chagas disease (American trypanosomiasis);Malaria;Toxoplasmosis;Amoebiasis;Tuberculosis;Measles;Influenza A;Rheumatoid arthritis;ER-Phagosome pathway;MyD88:MAL(TIRAP) cascade initiated on plasma membrane;MyD88 deficiency (TLR2/4);IRAK4 deficiency (TLR2/4);Toll Like Receptor 4 (TLR4) Cascade;Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;Caspase activation via Death Receptors in the presence of ligand;MyD88-independent TLR4 cascade;TRIF-mediated programmed cell death;IKK complex recruitment mediated by RIP1;TRAF6-mediated induction of TAK1 complex within TLR4 complex;IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation;Regulation of TLR by endogenous ligand PE1 9 +NX_O00212 Rho-related GTP-binding protein RhoD 210 23413 8.15 0 Early endosome;Cell membrane NA Involved in endosome dynamics. May coordinate membrane transport with the function of the cytoskeleton. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Participates in the reorganization of actin cytoskeleton; the function seems to involve WHAMM and includes regulation of filopodia formation and actin filament bundling. Can modulate the effect of DAPK3 in reorganization of actin cytoskeleton and focal adhesion dissolution. NA Belongs to the small GTPase superfamily. Rho family. Axon guidance;RHO GTPases Activate Formins;Rho GTPase cycle PE1 11 +NX_O00213 Amyloid-beta A4 precursor protein-binding family B member 1 710 77244 4.98 0 Cytoplasm;Nucleus speckle;Cell membrane;Growth cone;Nucleus NA Transcription coregulator that can have both coactivator and corepressor functions. Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain. Plays a central role in the response to DNA damage by translocating to the nucleus and inducing apoptosis. May act by specifically recognizing and binding histone H2AX phosphorylated on 'Tyr-142' (H2AXY142ph) at double-strand breaks (DSBs), recruiting other pro-apoptosis factors such as MAPK8/JNK1. Required for histone H4 acetylation at double-strand breaks (DSBs). Its ability to specifically bind modified histones and chromatin modifying enzymes such as KAT5/TIP60, probably explains its transcription activation activity. Function in association with TSHZ3, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s). Polyubiquitination by RNF157 leads to degradation by the proteasome (PubMed:25342469).;Phosphorylation at Ser-610 by SGK1 promotes its localization to the nucleus (By similarity). Phosphorylated following nuclear translocation. Phosphorylation at Tyr-547 by ABL1 enhances transcriptional activation activity and reduces the affinity for RASD1/DEXRAS1. NA Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks PE1 11 +NX_O00214 Galectin-8 317 35808 8.33 0 Cytoplasmic vesicle;Cytosol NA Beta-galactoside-binding lectin that acts as a sensor of membrane damage caused by infection and restricts the proliferation of infecting pathogens by targeting them for autophagy (PubMed:22246324, PubMed:28077878). Detects membrane rupture by binding beta-galactoside ligands located on the lumenal side of the endosome membrane; these ligands becoming exposed to the cytoplasm following rupture (PubMed:22246324, PubMed:28077878). Restricts infection by initiating autophagy via interaction with CALCOCO2/NDP52 (PubMed:22246324, PubMed:28077878). Required to restrict infection of bacterial invasion such as S.typhimurium (PubMed:22246324). Also required to restrict infection of Picornaviridae viruses (PubMed:28077878). Has a marked preference for 3'-O-sialylated and 3'-O-sulfated glycans (PubMed:21288902). NA NA NA PE1 1 +NX_O00217 NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial 210 23705 6 0 Mitochondrion Mitochondrial complex I deficiency, nuclear type 2 Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). May donate electrons to ubiquinone. NA Belongs to the complex I 23 kDa subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 11 +NX_O00219 Hyaluronan synthase 3 553 62998 8.77 7 Membrane;Cytoskeleton NA Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction (By similarity). NA Belongs to the NodC/HAS family. Glycan biosynthesis; hyaluronan biosynthesis.;Hyaluronan biosynthesis and export PE1 16 +NX_O00220 Tumor necrosis factor receptor superfamily member 10A 468 50089 6.64 1 Membrane;Nucleoplasm NA Receptor for the cytotoxic ligand TNFSF10/TRAIL (PubMed:26457518). The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Promotes the activation of NF-kappa-B. NA NA Cytokine-cytokine receptor interaction;Apoptosis;Natural killer cell mediated cytotoxicity;Measles;Influenza A;Cell surface interactions at the vascular wall;Caspase activation via Death Receptors in the presence of ligand;Regulation by c-FLIP;RIPK1-mediated regulated necrosis;CASP8 activity is inhibited;Dimerization of procaspase-8;TRAIL signaling;TP53 Regulates Transcription of Death Receptors and Ligands PE1 8 +NX_O00221 NF-kappa-B inhibitor epsilon 500 52864 6.22 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleolus NA Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. Inhibits DNA-binding of NF-kappa-B p50-p65 and p50-c-Rel complexes. Serine phosphorylated; followed by proteasome-dependent degradation. Belongs to the NF-kappa-B inhibitor family. T cell receptor signaling pathway;B cell receptor signaling pathway;Neurotrophin signaling pathway;Adipocytokine signaling pathway;Activation of NF-kappaB in B cells PE1 6 +NX_O00222 Metabotropic glutamate receptor 8 908 101741 8.49 7 Cell membrane NA G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. NA Belongs to the G-protein coupled receptor 3 family. Neuroactive ligand-receptor interaction;Glutamatergic synapse;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 7 +NX_O00230 Cortistatin 105 11532 8.84 0 Secreted NA Binds to all human somatostatin receptor (SSTR) subtypes. It also inhibits cAMP production induced by forskolin through SSTRs. NA Belongs to the somatostatin family. G alpha (i) signalling events;Peptide ligand-binding receptors PE1 1 +NX_O00231 26S proteasome non-ATPase regulatory subunit 11 422 47464 6.08 0 Golgi apparatus;Nucleoplasm;Cytosol;Nucleus NA Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. In the complex, PSMD11 is required for proteasome assembly. Plays a key role in increased proteasome activity in embryonic stem cells (ESCs): its high expression in ESCs promotes enhanced assembly of the 26S proteasome, followed by higher proteasome activity. Phosphorylated by AMPK. Belongs to the proteasome subunit S9 family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neutrophil degranulation;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 17 +NX_O00232 26S proteasome non-ATPase regulatory subunit 12 456 52904 7.53 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton Stankiewicz-Isidor syndrome Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. NA Belongs to the proteasome subunit p55 family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neutrophil degranulation;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 17 +NX_O00233 26S proteasome non-ATPase regulatory subunit 9 223 24682 6.46 0 Cytosol;Cell membrane NA Acts as a chaperone during the assembly of the 26S proteasome, specifically of the base subcomplex of the PA700/19S regulatory complex (RC). During the base subcomplex assembly is part of an intermediate PSMD9:PSMC6:PSMC3 module, also known as modulator trimer complex; PSMD9 is released during the further base assembly process. NA Belongs to the proteasome subunit p27 family. Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 12 +NX_O00237 E3 ubiquitin-protein ligase RNF103 685 79405 5.45 4 Endoplasmic reticulum membrane NA Acts as an E2-dependent E3 ubiquitin-protein ligase, probably involved in the ER-associated protein degradation pathway. NA NA Protein modification; protein ubiquitination.;ER Quality Control Compartment (ERQC) PE1 2 +NX_O00238 Bone morphogenetic protein receptor type-1B 502 56930 7.78 1 Membrane;Cell membrane Brachydactyly A1, D;Brachydactyly A2;Acromesomelic dysplasia, Demirhan type On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction. NA Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Cytokine-cytokine receptor interaction;TGF-beta signaling pathway;Signaling by BMP PE1 4 +NX_O00241 Signal-regulatory protein beta-1 398 43211 6.06 1 Cytoplasmic vesicle;Cell membrane NA Immunoglobulin-like cell surface receptor involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Participates also in the recruitment of tyrosine kinase SYK. Triggers activation of myeloid cells when associated with TYROBP (PubMed:10604985). N-glycosylated. NA Osteoclast differentiation;Signal regulatory protein family interactions;DAP12 interactions;Neutrophil degranulation PE1 20 +NX_O00244 Copper transport protein ATOX1 68 7402 6.71 0 Cytoplasm;Nucleoplasm;Nucleus;Cell membrane NA Binds and deliver cytosolic copper to the copper ATPase proteins. May be important in cellular antioxidant defense. NA Belongs to the ATX1 family. Mineral absorption;Detoxification of Reactive Oxygen Species;Ion influx/efflux at host-pathogen interface PE1 5 +NX_O00253 Agouti-related protein 132 14440 7.44 0 Golgi apparatus lumen;Secreted Obesity Plays a role in weight homeostasis. Involved in the control of feeding behavior through the central melanocortin system. Acts as alpha melanocyte-stimulating hormone antagonist by inhibiting cAMP production mediated by stimulation of melanocortin receptors within the hypothalamus and adrenal gland. Has very low activity with MC5R (By similarity). Is an inverse agonist for MC3R and MC4R being able to suppress their constitutive activity. It promotes MC3R and MC4R endocytosis in an arrestin-dependent manner. NA NA Adipocytokine signaling pathway;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 16 +NX_O00254 Proteinase-activated receptor 3 374 42508 8.56 7 Endoplasmic reticulum;Cell membrane NA Receptor for activated thrombin coupled to G proteins that stimulate phosphoinositide hydrolysis. A proteolytic cleavage generates a new N-terminus that functions as a tethered ligand. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Peptide ligand-binding receptors;G alpha (q) signalling events;Thrombin signalling through proteinase activated receptors (PARs) PE1 5 +NX_O00255 Menin 615 68023 6.14 0 Nucleoplasm;Cytosol;Nucleus Familial multiple endocrine neoplasia type I Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved in normal hematopoiesis through the activation of HOXA9 expression (By similarity). May be involved in DNA repair. NA NA SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Formation of the beta-catenin:TCF transactivating complex;Deactivation of the beta-catenin transactivating complex;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);RHO GTPases activate IQGAPs;Post-translational protein phosphorylation PE1 11 +NX_O00257 E3 SUMO-protein ligase CBX4 560 61368 9.41 0 Nucleoplasm;Nucleus speckle;Nucleus NA Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development (PubMed:12167701, PubMed:19636380, PubMed:21282530). PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:12167701, PubMed:19636380, PubMed:21282530). Binds to histone H3 trimethylated at 'Lys-9' (H3K9me3) (By similarity). Plays a role in the lineage differentiation of the germ layers in embryonic development (By similarity).;E3 SUMO-protein ligase which facilitates SUMO1 conjugation by UBE2I (PubMed:12679040). Involved in the sumoylation of HNRNPK, a p53/TP53 transcriptional coactivator, hence indirectly regulates p53/TP53 transcriptional activation resulting in p21/CDKN1A expression. Monosumoylates ZNF131 (PubMed:22825850). Phosphorylated on Thr-497 by HIPK2 upon DNA damage. This phosphorylation stimulates E3 SUMO-protein ligase activity and promotes sumoylation on Lys-494, as well as sumoylation of other target proteins, such as HNRNPK. NA Protein modification; protein sumoylation.;SUMOylation of DNA damage response and repair proteins;Oxidative Stress Induced Senescence;SUMOylation of RNA binding proteins;SUMOylation of chromatin organization proteins;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known;Regulation of PTEN gene transcription;SUMOylation of transcription cofactors;SUMOylation of DNA methylation proteins PE1 17 +NX_O00258 Tail-anchored protein insertion receptor WRB 174 19780 9.71 3 Endoplasmic reticulum membrane NA Receptor for ASNA1/TRC40-mediated insertion of tail-anchored (TA) proteins into the ER membrane. NA Belongs to the WRB/GET1 family. Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 21 +NX_O00264 Membrane-associated progesterone receptor component 1 195 21671 4.56 1 Microsome membrane;Endoplasmic reticulum;Smooth endoplasmic reticulum membrane;Nucleolus NA Component of a progesterone-binding protein complex (PubMed:28396637). Binds progesterone (PubMed:25675345). Has many reported cellular functions (heme homeostasis, interaction with CYPs). NA Belongs to the cytochrome b5 family. MAPR subfamily. Neutrophil degranulation PE1 X +NX_O00267 Transcription elongation factor SPT5 1087 121000 4.95 0 Nucleoplasm;Nucleus NA Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter. Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex. DSIF and NELF promote pausing by inhibition of the transcription elongation factor TFIIS/S-II. TFIIS/S-II binds to RNA polymerase II at transcription pause sites and stimulates the weak intrinsic nuclease activity of the enzyme. Cleavage of blocked transcripts by RNA polymerase II promotes the resumption of transcription from the new 3' terminus and may allow repeated attempts at transcription through natural pause sites. DSIF can also positively regulate transcriptional elongation and is required for the efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat. DSIF acts to suppress transcriptional pausing in transcripts derived from the HIV-1 LTR and blocks premature release of HIV-1 transcripts at terminator sequences. Phosphorylated by CDK7 and CDK9. Phosphorylation by P-TEFb alleviates transcriptional pausing and can stimulate transcriptional elongation from the HIV-1 LTR. P-TEFb dependent phosphorylation is stimulated by the HIV-1 Tat protein. Phosphorylation may also stimulate interaction with PIN1. Bulk phosphorylation occurs predominantly in mitosis.;Methylated by PRMT1/HRMT1L2 and PRMT5/SKB1. Methylation negatively regulates interaction with P-TEFb and RNA polymerase II.;SUPT5H is phosphorylated by CDK7 Belongs to the SPT5 family. Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;RNA polymerase II transcribes snRNA genes;TP53 Regulates Transcription of DNA Repair Genes PE1 19 +NX_O00268 Transcription initiation factor TFIID subunit 4 1085 110114 9.95 0 Nucleoplasm;Nucleus NA Part of the TFIID complex, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Potentiates transcriptional activation by the AF-2S of the retinoic acid, vitamin D3 and thyroid hormone. NA Belongs to the TAF4 family. Basal transcription factors;Huntington's disease;Herpes simplex infection;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;Regulation of TP53 Activity through Phosphorylation PE1 20 +NX_O00270 12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor 319 35075 9.37 7 Cell membrane NA High-affinity receptor for 12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid (12-S-HETE). 12-(S)-HETE is an arachidonic acid metabolite secreted by platelets and tumor cells, and known to induce endothelial cells retraction allowing invasive cell access to the subendothelial matrix, which is a critical step for extravasation or metastasis. Ligand-binding lead to activation of ERK1/2 (MAPK3/MAPK1), MEK, and NF-kappa-B. NA Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;Free fatty acid receptors PE2 6 +NX_O00273 DNA fragmentation factor subunit alpha 331 36522 4.68 0 Cytoplasm;Cytosol;Cell membrane NA Inhibitor of the caspase-activated DNase (DFF40). Caspase-3 cleaves DFF45 at 2 sites to generate an active factor. NA Apoptosis;Apoptosis induced DNA fragmentation PE1 1 +NX_O00287 Regulatory factor X-associated protein 272 28232 5.41 0 Nucleus speckle;Nucleus Bare lymphocyte syndrome 2 Part of the RFX complex that binds to the X-box of MHC II promoters. Phosphorylated. NA Antigen processing and presentation;Tuberculosis;Primary immunodeficiency PE1 13 +NX_O00291 Huntingtin-interacting protein 1 1037 116221 5.2 0 Cytoplasm;Endomembrane system;Clathrin-coated vesicle membrane;Cytoplasmic vesicle;Nucleus NA Plays a role in clathrin-mediated endocytosis and trafficking (PubMed:11532990, PubMed:11577110, PubMed:11889126). Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner (By similarity). Regulates presynaptic nerve terminal activity (By similarity). Enhances androgen receptor (AR)-mediated transcription (PubMed:16027218). May act as a proapoptotic protein that induces cell death by acting through the intrinsic apoptosis pathway (PubMed:11007801). Binds 3-phosphoinositides (via ENTH domain) (PubMed:14732715). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis (PubMed:14732715). May play a functional role in the cell filament networks (PubMed:18790740). May be required for differentiation, proliferation, and/or survival of somatic and germline progenitors (PubMed:11007801, PubMed:12163454). HIP1 is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the SLA2 family. Huntington's disease;Clathrin-mediated endocytosis PE1 7 +NX_O00292 Left-right determination factor 2 366 40920 8.91 0 Secreted Left-right axis malformations Required for left-right (L-R) asymmetry determination of organ systems in mammals. May play a role in endometrial bleeding. The processing of the protein may also occur at the second R-X-X-R site located at AA 132-135. Processing appears to be regulated in a cell-type specific manner. Belongs to the TGF-beta family. TGF-beta signaling pathway;Platelet degranulation;Signaling by NODAL;Regulation of signaling by NODAL PE1 1 +NX_O00294 Tubby-related protein 1 542 60609 9.49 0 Cytoplasm;Secreted;Synapse;Cell membrane Retinitis pigmentosa 14;Leber congenital amaurosis 15 Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long-term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages. NA Belongs to the TUB family. NA PE1 6 +NX_O00295 Tubby-related protein 2 520 58664 8.31 0 Cytoplasm;Secreted NA NA NA Belongs to the TUB family. NA PE1 19 +NX_O00299 Chloride intracellular channel protein 1 241 26923 5.09 1 Cytoplasm;Cell membrane;Nucleus membrane;Cytosol;Nucleus NA Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Involved in regulation of the cell cycle. Hydrogen peroxide treatment causes a conformation change, leading to dimerization and formation of an intramolecular disulfide bond between Cys-24 and Cys-59. Belongs to the chloride channel CLIC family. NA PE1 6 +NX_O00300 Tumor necrosis factor receptor superfamily member 11B 401 46026 8.66 0 Secreted Paget disease of bone 5, juvenile-onset Acts as decoy receptor for TNFSF11/RANKL and thereby neutralizes its function in osteoclastogenesis. Inhibits the activation of osteoclasts and promotes osteoclast apoptosis in vitro. Bone homeostasis seems to depend on the local ratio between TNFSF11 and TNFRSF11B. May also play a role in preventing arterial calcification. May act as decoy receptor for TNFSF10/TRAIL and protect against apoptosis. TNFSF10/TRAIL binding blocks the inhibition of osteoclastogenesis. The N-terminus is blocked.;N-glycosylated. Contains sialic acid residues. NA Cytokine-cytokine receptor interaction;Osteoclast differentiation;TNFs bind their physiological receptors PE1 8 +NX_O00303 Eukaryotic translation initiation factor 3 subunit F 357 37564 5.24 0 Cytoplasm Intellectual developmental disorder, autosomal recessive 67 Deubiquitinates activated NOTCH1, promoting its nuclear import, thereby acting as a positive regulator of Notch signaling.;Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). Phosphorylation is enhanced upon serum stimulation. Phosphorylated during apoptosis by caspase-processed CDK11. Belongs to the eIF-3 subunit F family. RNA transport;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit PE1 11 +NX_O00305 Voltage-dependent L-type calcium channel subunit beta-4 520 58169 9.37 0 NA Juvenile myoclonic epilepsy 6;Epilepsy, idiopathic generalized 9;Episodic ataxia 5 The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. CACNB4 is phosphorylated by CAMK2D (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the calcium channel beta subunit family. MAPK signaling pathway;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;NCAM1 interactions;Presynaptic depolarization and calcium channel opening;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 2 +NX_O00308 NEDD4-like E3 ubiquitin-protein ligase WWP2 870 98912 6.67 0 Nucleus NA E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Polyubiquitinates POU5F1 by 'Lys-63'-linked conjugation and promotes it to proteasomal degradation; in embryonic stem cells (ESCs) the ubiquitination is proposed to regulate POU5F1 protein level. Ubiquitinates EGR2 and promotes it to proteasomal degradation; in T-cells the ubiquitination inhibits activation-induced cell death. Ubiquitinates SLC11A2; the ubiquitination is enhanced by presence of NDFIP1 and NDFIP2. Ubiquitinates RPB1 and promotes it to proteasomal degradation. Autoubiquitinated. Ubiquitinated by the SCF(FBXL15) complex, leading to its degradation by the proteasome. NA Protein modification; protein ubiquitination.;Regulation of PTEN stability and activity;NOTCH3 Activation and Transmission of Signal to the Nucleus PE1 16 +NX_O00311 Cell division cycle 7-related protein kinase 574 63888 8.96 0 Nucleoplasm;Spindle;Nucleus;Cytoskeleton NA Seems to phosphorylate critical substrates that regulate the G1/S phase transition and/or DNA replication. Can phosphorylates MCM2 and MCM3. NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CDC7 subfamily. Cell cycle;Activation of ATR in response to replication stress;Activation of the pre-replicative complex;Transcriptional Regulation by E2F6 PE1 1 +NX_O00321 ETS translocation variant 2 342 36633 5.88 0 Nucleus NA Binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'. NA Belongs to the ETS family. NA PE2 19 +NX_O00322 Uroplakin-1a 258 28879 5.16 4 Membrane NA Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions (By similarity). NA Belongs to the tetraspanin (TM4SF) family. NA PE1 19 +NX_O00327 Aryl hydrocarbon receptor nuclear translocator-like protein 1 626 68762 6.4 0 Cytoplasm;Nucleoplasm;PML body;Cytoplasmic vesicle;Nucleus NA Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. ARNTL/BMAL1 positively regulates myogenesis and negatively regulates adipogenesis via the transcriptional control of the genes of the canonical Wnt signaling pathway. Plays a role in normal pancreatic beta-cell function; regulates glucose-stimulated insulin secretion via the regulation of antioxidant genes NFE2L2/NRF2 and its targets SESN2, PRDX3, CCLC and CCLM. Negatively regulates the mTORC1 signaling pathway; regulates the expression of MTOR and DEPTOR. Controls diurnal oscillations of Ly6C inflammatory monocytes; rhythmic recruitment of the PRC2 complex imparts diurnal variation to chemokine expression that is necessary to sustain Ly6C monocyte rhythms. Regulates the expression of HSD3B2, STAR, PTGS2, CYP11A1, CYP19A1 and LHCGR in the ovary and also the genes involved in hair growth. Plays an important role in adult hippocampal neurogenesis by regulating the timely entry of neural stem/progenitor cells (NSPCs) into the cell cycle and the number of cell divisions that take place prior to cell-cycle exit. Regulates the circadian expression of CIART and KLF11. The CLOCK-ARNTL/BMAL1 heterodimer regulates the circadian expression of SERPINE1/PAI1, VWF, B3, CCRN4L/NOC, NAMPT, DBP, MYOD1, PPARGC1A, PPARGC1B, SIRT1, GYS2, F7, NGFR, GNRHR, BHLHE40/DEC1, ATF4, MTA1, KLF10 and also genes implicated in glucose and lipid metabolism. Promotes rhythmic chromatin opening, regulating the DNA accessibility of other transcription factors. The NPAS2-ARNTL/BMAL1 heterodimer positively regulates the expression of MAOA, F7 and LDHA and modulates the circadian rhythm of daytime contrast sensitivity by regulating the rhythmic expression of adenylate cyclase type 1 (ADCY1) in the retina. The preferred binding motif for the CLOCK-ARNTL/BMAL1 heterodimer is 5'-CACGTGA-3', which contains a flanking Ala residue in addition to the canonical 6-nucleotide E-box sequence (PubMed:23229515). CLOCK specifically binds to the half-site 5'-CAC-3', while ARNTL binds to the half-site 5'-GTGA-3' (PubMed:23229515). The CLOCK-ARNTL/BMAL1 heterodimer also recognizes the non-canonical E-box motifs 5'-AACGTGA-3' and 5'-CATGTGA-3' (PubMed:23229515). Essential for the rhythmic interaction of CLOCK with ASS1 and plays a critical role in positively regulating CLOCK-mediated acetylation of ASS1 (PubMed:28985504). Plays a role in protecting against lethal sepsis by limiting the expression of immune checkpoint protein CD274 in macrophages in a PKM2-dependent manner (By similarity). Regulates the diurnal rhythms of skeletal muscle metabolism via transcriptional activation of genes promoting triglyceride synthesis (DGAT2) and metabolic efficiency (COQ10B) (By similarity). Acetylated on Lys-538 upon dimerization with CLOCK. Acetylation facilitates CRY1-mediated repression. Deacetylated by SIRT1, which may result in decreased protein stability.;Undergoes lysosome-mediated degradation in a time-dependent manner in the liver.;O-glycosylated; contains O-GlcNAc. O-glycosylation by OGT prevents protein degradation by inhibiting ubiquitination. It also stabilizes the CLOCK-ARNTL/BMAL1 heterodimer thereby increasing CLOCK-ARNTL/BMAL1-mediated transcription of genes in the negative loop of the circadian clock such as PER1/2/3 and CRY1/2.;Ubiquitinated, leading to its proteasomal degradation (PubMed:24728990). Deubiquitinated by USP9X (PubMed:29626158).;Sumoylated on Lys-259 upon dimerization with CLOCK. Predominantly conjugated to poly-SUMO2/3 rather than SUMO1 and the level of these conjugates undergo rhythmic variation, peaking at CT9-CT12. Sumoylation localizes it exclusively to the PML body and promotes its ubiquitination in the PML body, ubiquitin-dependent proteasomal degradation and the transcriptional activity of the CLOCK-ARNTL/BMAL1 heterodimer.;Phosphorylated upon dimerization with CLOCK. Phosphorylation enhances the transcriptional activity, alters the subcellular localization and decreases the stability of the CLOCK-ARNTL/BMAL1 heterodimer by promoting its degradation. Phosphorylation shows circadian variations in the liver with a peak between CT10 to CT14. Phosphorylation at Ser-90 by CK2 is essential for its nuclear localization, its interaction with CLOCK and controls CLOCK nuclear entry (By similarity). Dephosphorylation at Ser-78 is important for dimerization with CLOCK and transcriptional activity (PubMed:23229515). NA Circadian rhythm - mammal;Dopaminergic synapse;Herpes simplex infection;PPARA activates gene expression;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock PE1 11 +NX_O00329 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 1044 119479 6.79 0 Cytoplasm;Cytoskeleton;Cytoplasmic vesicle Activated PI3K-delta syndrome May be involved in stabilizing total RAS levels, resulting in increased ERK phosphorylation and increased PI3K activity.;Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Mediates immune responses. Plays a role in B-cell development, proliferation, migration, and function. Required for B-cell receptor (BCR) signaling. Mediates B-cell proliferation response to anti-IgM, anti-CD40 and IL4 stimulation. Promotes cytokine production in response to TLR4 and TLR9. Required for antibody class switch mediated by TLR9. Involved in the antigen presentation function of B-cells. Involved in B-cell chemotaxis in response to CXCL13 and sphingosine 1-phosphate (S1P). Required for proliferation, signaling and cytokine production of naive, effector and memory T-cells. Required for T-cell receptor (TCR) signaling. Mediates TCR signaling events at the immune synapse. Activation by TCR leads to antigen-dependent memory T-cell migration and retention to antigenic tissues. Together with PIK3CG participates in T-cell development. Contributes to T-helper cell expansion and differentiation. Required for T-cell migration mediated by homing receptors SELL/CD62L, CCR7 and S1PR1 and antigen dependent recruitment of T-cells. Together with PIK3CG is involved in natural killer (NK) cell development and migration towards the sites of inflammation. Participates in NK cell receptor activation. Have a role in NK cell maturation and cytokine production. Together with PIK3CG is involved in neutrophil chemotaxis and extravasation. Together with PIK3CG participates in neutrophil respiratory burst. Have important roles in mast-cell development and mast cell mediated allergic response. Involved in stem cell factor (SCF)-mediated proliferation, adhesion and migration. Required for allergen-IgE-induced degranulation and cytokine release. The lipid kinase activity is required for its biological function. Autophosphorylation on Ser-1039 results in the almost complete inactivation of the lipid kinase activity. Belongs to the PI3/PI4-kinase family. Phospholipid metabolism; phosphatidylinositol phosphate biosynthesis.;Inositol phosphate metabolism;ErbB signaling pathway;Chemokine signaling pathway;Phosphatidylinositol signaling system;mTOR signaling pathway;Apoptosis;VEGF signaling pathway;Osteoclast differentiation;Focal adhesion;Toll-like receptor signaling pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Cholinergic synapse;Regulation of actin cytoskeleton;Insulin signaling pathway;Progesterone-mediated oocyte maturation;Type II diabetes mellitus;Aldosterone-regulated sodium reabsorption;Carbohydrate digestion and absorption;Bacterial invasion of epithelial cells;Chagas disease (American trypanosomiasis);Toxoplasmosis;Amoebiasis;Hepatitis C;Measles;Influenza A;HTLV-I infection;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Melanoma;Acute myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;Synthesis of PIPs at the plasma membrane;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Interleukin receptor SHC signaling;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Interleukin-3, Interleukin-5 and GM-CSF signaling;Regulation of signaling by CBL;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;RET signaling;Erythropoietin activates Phosphoinositide-3-kinase (PI3K) PE1 1 +NX_O00330 Pyruvate dehydrogenase protein X component, mitochondrial 501 54122 8.8 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion;Cell membrane Pyruvate dehydrogenase E3-binding protein deficiency Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex. Delipoylated at Lys-97 by SIRT4, delipoylation decreases the PHD complex activity. Belongs to the 2-oxoacid dehydrogenase family. Metabolic pathways;Signaling by Retinoic Acid;Regulation of pyruvate dehydrogenase (PDH) complex;Pyruvate metabolism;Glyoxylate metabolism and glycine degradation PE1 11 +NX_O00337 Sodium/nucleoside cotransporter 1 649 71584 7.77 13 Cell membrane NA Sodium-dependent and pyrimidine-selective. Exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (selective for pyrimidine nucleosides and adenosine). It also transports the antiviral pyrimidine nucleoside analogs 3'-azido-3'-deoxythymidine (AZT) and 2',3'-dideoxycytidine (ddC). It may be involved in the intestinal absorption and renal handling of pyrimidine nucleoside analogs used to treat acquired immunodeficiency syndrome (AIDS). It has the following selective inhibition: adenosine, thymidine, cytidine, uridine >> guanosine, inosine. NA Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family. Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane PE1 15 +NX_O00338 Sulfotransferase 1C2 296 34880 7.12 0 Cytoplasm NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of drugs, xenobiotic compounds, hormones, and neurotransmitters. May be involved in the activation of carcinogenic hydroxylamines. Shows activity towards p-nitrophenol and N-hydroxy-2-acetylamino-fluorene (N-OH-2AAF). NA Belongs to the sulfotransferase 1 family. Cytosolic sulfonation of small molecules PE1 2 +NX_O00339 Matrilin-2 956 106837 5.86 0 Secreted NA Involved in matrix assembly. NA NA NA PE1 8 +NX_O00341 Excitatory amino acid transporter 5 560 60658 6.33 10 Membrane NA Transports L-glutamate; the L-glutamate uptake is sodium- and voltage-dependent and chloride-independent. Its associated chloride conductance may participate in visual processing. NA Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A7 subfamily. Glutamatergic synapse;Glutamate Neurotransmitter Release Cycle;Transport of inorganic cations/anions and amino acids/oligopeptides PE2 1 +NX_O00358 Forkhead box protein E1 373 38076 9.62 0 Nucleus Thyroid cancer, non-medullary, 4;Bamforth-Lazarus syndrome Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this transcription factor. Also implicated in thyroid gland morphogenesis. May indirectly play a role in cell growth and migration through the regulation of WNT5A expression. Phosphorylated. NA NA PE1 9 +NX_O00370 LINE-1 retrotransposable element ORF2 protein 1275 149012 9.68 0 NA NA Has a reverse transcriptase activity required for target-primed reverse transcription of the LINE-1 element mRNA, a crucial step in LINE-1 retrotransposition. Has also an endonuclease activity that allows the introduction of nicks in the chromosomal target DNA. Cleaves DNA in AT-rich regions between a 5' stretch of purines and a 3' stretch of pyrimidines, corresponding to sites of LINE-1 integration in the genome. NA NA NA PE1 unknown +NX_O00391 Sulfhydryl oxidase 1 747 82578 9.13 1 Golgi apparatus;Cytoplasmic vesicle;Secreted;Golgi apparatus membrane NA Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide (PubMed:17331072, PubMed:18393449, PubMed:23704371, PubMed:30367560, PubMed:23867277). Plays a role in disulfide bond formation in a variety of extracellular proteins (PubMed:17331072, PubMed:30367560, PubMed:22801504, PubMed:23867277). In fibroblasts, required for normal incorporation of laminin into the extracellular matrix, and thereby for normal cell-cell adhesion and cell migration (PubMed:23704371, PubMed:30367560, PubMed:23867277). N-glycosylated (PubMed:17331072, PubMed:29757379). O-glycosylated on Thr and Ser residues (PubMed:29757379). Belongs to the quiescin-sulfhydryl oxidase (QSOX) family. Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Neutrophil degranulation;Post-translational protein phosphorylation PE1 1 +NX_O00398 Putative P2Y purinoceptor 10 339 38774 9.26 7 Cell membrane NA Putative receptor for purines coupled to G-proteins. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (q) signalling events;P2Y receptors PE1 X +NX_O00399 Dynactin subunit 6 190 20747 5.94 0 Cell membrane;Nucleolus;Cytosol;Kinetochore;Cytoskeleton NA NA Phosphorylation at Thr-186 by CDK1 during mitotic prometaphase creates a binding site for PLK1 that facilitates its recruitment to kinetochores. Belongs to the dynactin subunits 5/6 family. Dynactin subunit 6 subfamily. Vasopressin-regulated water reabsorption;MHC class II antigen presentation;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 8 +NX_O00400 Acetyl-coenzyme A transporter 1 549 60909 6.98 11 Nucleoplasm;Endoplasmic reticulum membrane Congenital cataracts, hearing loss, and neurodegeneration;Spastic paraplegia 42, autosomal dominant Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides (PubMed:9096318). Negatively regulates BMP signaling (PubMed:25402622). NA Belongs to the SLC33A transporter family. Glycosphingolipid biosynthesis - ganglio series;Metabolic pathways;Transport of vitamins, nucleosides, and related molecules;Defective SLC33A1 causes spastic paraplegia 42 (SPG42) PE1 3 +NX_O00401 Neural Wiskott-Aldrich syndrome protein 505 54827 8.05 0 Cytoplasm;Nucleolus;Cytosol;Nucleus;Cytoskeleton NA Regulates actin polymerization by stimulating the actin-nucleating activity of the Arp2/3 complex (PubMed:9422512, PubMed:16767080, PubMed:19366662, PubMed:19487689, PubMed:22847007, PubMed:22921828). Involved in various processes, such as mitosis and cytokinesis, via its role in the regulation of actin polymerization (PubMed:9422512, PubMed:19366662, PubMed:19487689, PubMed:22847007, PubMed:22921828). Together with CDC42, involved in the extension and maintenance of the formation of thin, actin-rich surface projections called filopodia (PubMed:9422512). In addition to its role in the cytoplasm, also plays a role in the nucleus by regulating gene transcription, probably by promoting nuclear actin polymerization (PubMed:16767080). Binds to HSF1/HSTF1 and forms a complex on heat shock promoter elements (HSE) that negatively regulates HSP90 expression (By similarity). Plays a role in dendrite spine morphogenesis (By similarity). Decreasing levels of DNMBP (using antisense RNA) alters apical junction morphology in cultured enterocytes, junctions curve instead of being nearly linear (PubMed:19767742). Phosphorylation at Ser-242, Tyr-256, Ser-484 and Ser-485 enhances actin polymerization activity.;WASL is phosphorylated by MAPK3 NA Chemokine signaling pathway;Adherens junction;Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Pathogenic Escherichia coli infection;Shigellosis;Salmonella infection;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;EPHB-mediated forward signaling;Nephrin family interactions;NOSTRIN mediated eNOS trafficking;DCC mediated attractive signaling;Clathrin-mediated endocytosis PE1 7 +NX_O00408 cGMP-dependent 3',5'-cyclic phosphodiesterase 941 105717 5.22 0 Mitochondrion outer membrane;Cytoplasm;Mitochondrion;Cell membrane;Mitochondrion matrix;Cytosol;Mitochondrion inner membrane NA Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Plays an important role in growth and invasion of malignant melanoma cells (e.g. Pseudomyxoma peritonei (PMP) cell line) (PubMed:24705027).;Regulates mitochondrial cAMP levels and respiration (By similarity). Involved in the regulation of mitochondria morphology/dynamics and apoptotic cell death via local modulation of cAMP/PKA signaling in the mitochondrion, including the monitoring of local cAMP levels at the outer mitochondrial membrane and of PKA-dependent phosphorylation of DNM1L (PubMed:28463107). NA Belongs to the cyclic nucleotide phosphodiesterase family. PDE2 subfamily. Purine metabolism;G alpha (s) signalling events;cGMP effects PE1 11 +NX_O00409 Forkhead box protein N3 490 53835 6.19 0 Nucleoplasm;Nucleus;Cell membrane NA Acts as a transcriptional repressor. May be involved in DNA damage-inducible cell cycle arrests (checkpoints). NA NA NA PE1 14 +NX_O00410 Importin-5 1097 123630 4.83 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Mediates the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. Binds to CPEB3 and mediates its nuclear import following neuronal stimulation (By similarity). In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev. NA Belongs to the importin beta family. Importin beta-3 subfamily. vRNP Assembly PE1 13 +NX_O00411 DNA-directed RNA polymerase, mitochondrial 1230 138620 9.19 0 Mitochondrion NA DNA-dependent RNA polymerase catalyzes the transcription of mitochondrial DNA into RNA using the four ribonucleoside triphosphates as substrates. NA Belongs to the phage and mitochondrial RNA polymerase family. Transcriptional activation of mitochondrial biogenesis;Mitochondrial transcription initiation PE1 19 +NX_O00418 Eukaryotic elongation factor 2 kinase 725 82144 5.16 0 Nucleoplasm NA Threonine kinase that regulates protein synthesis by controlling the rate of peptide chain elongation. Upon activation by a variety of upstream kinases including AMPK or TRPM7, phosphorylates the elongation factor EEF2 at a single site, renders it unable to bind ribosomes and thus inactive. In turn, the rate of protein synthesis is reduced. Autophosphorylated at multiple residues, Thr-348 being the major site. Phosphorylated by AMP-activated protein kinase AMPK at Ser-398 leading to EEF2K activation and protein synthesis inhibition. Phosphorylated by TRPM7 at Ser-78 resulting in improved protein stability, higher EE2F phosphorylated and subsequently reduced rate of protein synthesis. Phosphorylation by other kinases such as CDK1 and MAPK13 at Ser-359 or RPS6KA1 and RPS6KB1 at Ser-366 instead decrease EEF2K activity and promote protein synthesis. Belongs to the protein kinase superfamily. Alpha-type protein kinase family. mTORC1-mediated signalling PE1 16 +NX_O00421 C-C chemokine receptor-like 2 344 39513 7.92 7 Cell membrane NA Receptor for CCL19 and chemerin/RARRES2. Does not appear to be a signaling receptor, but may have a role in modulating chemokine-triggered immune responses by capturing and internalizing CCL19 or by presenting RARRES2 ligand to CMKLR1, a functional signaling receptors. Plays a critical role for the development of Th2 responses. NA Belongs to the G-protein coupled receptor 1 family. Chemokine receptors bind chemokines PE1 3 +NX_O00422 Histone deacetylase complex subunit SAP18 153 17561 9.38 0 Cytoplasm;Nucleus speckle;Nucleoplasm;Cytosol;Nucleus NA Component of the SIN3-repressing complex. Enhances the ability of SIN3-HDAC1-mediated transcriptional repression. When tethered to the promoter, it can direct the formation of a repressive complex to core histone proteins. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP and PSAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets. The ASAP complex can inhibit mRNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits the formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function. NA Belongs to the SAP18 family. RNA transport;mRNA surveillance pathway;NoRC negatively regulates rRNA expression;HDACs deacetylate histones PE1 13 +NX_O00423 Echinoderm microtubule-associated protein-like 1 815 89861 6.61 0 Cytoplasm;Perinuclear region;Cytoskeleton Band heterotopia Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuronal progenitor cells in the developing brain and for normal brain development. Does not affect neuron migration per se. NA Belongs to the WD repeat EMAP family. NA PE1 14 +NX_O00425 Insulin-like growth factor 2 mRNA-binding protein 3 579 63705 8.99 0 Cytoplasm;Cytosol;Nucleus NA RNA-binding factor that may recruit target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript 'caging' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation. Binds to the 3'-UTR of CD44 mRNA and stabilizes it, hence promotes cell adhesion and invadopodia formation in cancer cells. Binds to beta-actin/ACTB and MYC transcripts. Binds to the 5'-UTR of the insulin-like growth factor 2 (IGF2) mRNAs. NA Belongs to the RRM IMP/VICKZ family. Insulin-like Growth Factor-2 mRNA Binding Proteins (IGF2BPs/IMPs/VICKZs) bind RNA PE1 7 +NX_O00429 Dynamin-1-like protein 736 81877 6.37 0 Mitochondrion outer membrane;Golgi apparatus;Endomembrane system;Clathrin-coated pit;Peroxisome;Synaptic vesicle membrane;Cytoplasmic vesicle;Cytosol Optic atrophy 5;Encephalopathy due to defective mitochondrial and peroxisomal fission 1 Inhibits peroxisomal division when overexpressed.;Inhibits peroxisomal division when overexpressed.;Functions in mitochondrial and peroxisomal division. Mediates membrane fission through oligomerization into membrane-associated tubular structures that wrap around the scission site to constrict and sever the mitochondrial membrane through a GTP hydrolysis-dependent mechanism. The specific recruitment at scission sites is mediated by membrane receptors like MFF, MIEF1 and MIEF2 for mitochondrial membranes (PubMed:29899447). While the recruitment by the membrane receptors is GTP-dependent, the following hydrolysis of GTP induces the dissociation from the receptors and allows DNM1L filaments to curl into closed rings that are probably sufficient to sever a double membrane (PubMed:29899447). Through its function in mitochondrial division, ensures the survival of at least some types of postmitotic neurons, including Purkinje cells, by suppressing oxidative damage. Required for normal brain development, including that of cerebellum. Facilitates developmentally regulated apoptosis during neural tube formation. Required for a normal rate of cytochrome c release and caspase activation during apoptosis; this requirement may depend upon the cell type and the physiological apoptotic cues. Plays an important role in mitochondrial fission during mitosis (PubMed:26992161, PubMed:27301544, PubMed:27328748). Required for formation of endocytic vesicles. Proposed to regulate synaptic vesicle membrane dynamics through association with BCL2L1 isoform Bcl-X(L) which stimulates its GTPase activity in synaptic vesicles; the function may require its recruitment by MFF to clathrin-containing vesicles (PubMed:23792689). Required for programmed necrosis execution. Rhythmic control of its activity following phosphorylation at Ser-637 is essential for the circadian control of mitochondrial ATP production (PubMed:29478834). S-nitrosylation increases DNM1L dimerization, mitochondrial fission and causes neuronal damage.;Sumoylated on various lysine residues within the B domain, probably by MUL1. Sumoylation positively regulates mitochondrial fission. Desumoylated by SENP5 during G2/M transition of mitosis. Appears to be linked to its catalytic activity.;O-GlcNAcylation augments the level of the GTP-bound active form of DRP1 and induces translocation from the cytoplasm to mitochondria in cardiomyocytes. It also decreases phosphorylation at Ser-637 (By similarity).;Ubiquitination by MARCH5 affects mitochondrial morphology.;Phosphorylation/dephosphorylation events on two sites near the GED domain regulate mitochondrial fission. Phosphorylation on Ser-637 inhibits the GTPase activity, leading to a defect in mitochondrial fission promoting mitochondrial elongation. Dephosphorylated on this site by PPP3CA which promotes mitochondrial fission. Phosphorylation on Ser-616 activates the GTPase activity and promotes mitochondrial fission. Phosphorylated in a circadian manner at Ser-637 (PubMed:29478834). Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. Endocytosis;Fc gamma R-mediated phagocytosis;Synaptic vesicle cycle;Endocrine and other factor-regulated calcium reabsorption;Bacterial invasion of epithelial cells;Apoptotic execution phase PE1 12 +NX_O00442 RNA 3'-terminal phosphate cyclase 366 39337 8.01 0 Nucleoplasm NA Catalyzes the conversion of 3'-phosphate to a 2',3'-cyclic phosphodiester at the end of RNA. The mechanism of action of the enzyme occurs in 3 steps: (A) adenylation of the enzyme by ATP; (B) transfer of adenylate to an RNA-N3'P to produce RNA-N3'PP5'A; (C) and attack of the adjacent 2'-hydroxyl on the 3'-phosphorus in the diester linkage to produce the cyclic end product. The biological role of this enzyme is unknown but it is likely to function in some aspects of cellular RNA processing. NA Belongs to the RNA 3'-terminal cyclase family. Type 1 subfamily. NA PE1 1 +NX_O00443 Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha 1686 190680 8.25 0 Golgi apparatus;Clathrin-coated vesicle;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus NA Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers. Has a role in several intracellular trafficking events. Functions in insulin signaling and secretion. Required for translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane and glucose uptake in response to insulin-mediated RHOQ activation. Regulates insulin secretion through two different mechanisms: involved in glucose-induced insulin secretion downstream of insulin receptor in a pathway that involves AKT1 activation and TBC1D4/AS160 phosphorylation, and participates in the late step of insulin granule exocytosis probably in insulin granule fusion. Synthesizes PtdIns3P in response to insulin signaling. Functions in clathrin-coated endocytic vesicle formation and distribution. Regulates dynamin-independent endocytosis, probably by recruiting EEA1 to internalizing vesicles. In neurosecretory cells synthesizes PtdIns3P on large dense core vesicles. Participates in calcium induced contraction of vascular smooth muscle by regulating myosin light chain (MLC) phosphorylation through a mechanism involving Rho kinase-dependent phosphorylation of the MLCP-regulatory subunit MYPT1. May play a role in the EGF signaling cascade. May be involved in mitosis and UV-induced damage response. Required for maintenance of normal renal structure and function by supporting normal podocyte function. Phosphorylated upon insulin stimulation; which may lead to enzyme activation (By similarity). Phosphorylated on Ser-259 during mitosis and upon UV irradiation; which does not change enzymatic activity but leads to proteasomal degradation. Ser-259 phosphorylation may be mediated by CDK1 or JNK, depending on the physiological state of the cell. Belongs to the PI3/PI4-kinase family. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PIPs at the plasma membrane;Synthesis of PIPs at the Golgi membrane;Synthesis of PIPs at the early endosome membrane;Synthesis of PIPs at the late endosome membrane;Golgi Associated Vesicle Biogenesis;Clathrin-mediated endocytosis PE1 11 +NX_O00444 Serine/threonine-protein kinase PLK4 970 108972 8.79 0 Cleavage furrow;Centriole;Nucleolus;Centrosome;Cytosol Microcephaly and chorioretinopathy, autosomal recessive, 2 Serine/threonine-protein kinase that plays a central role in centriole duplication. Able to trigger procentriole formation on the surface of the parental centriole cylinder, leading to the recruitment of centriole biogenesis proteins such as SASS6, CENPJ/CPAP, CCP110, CEP135 and gamma-tubulin. When overexpressed, it is able to induce centrosome amplification through the simultaneous generation of multiple procentrioles adjoining each parental centriole during S phase. Phosphorylates 'Ser-151' of FBXW5 during the G1/S transition, leading to inhibit FBXW5 ability to ubiquitinate SASS6. Its central role in centriole replication suggests a possible role in tumorigenesis, centrosome aberrations being frequently observed in tumors. Also involved in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles. Also involved in trophoblast differentiation by phosphorylating HAND1, leading to disrupt the interaction between HAND1 and MDFIC and activate HAND1. Phosphorylates CDC25C and CHEK2. Required for the recruitment of STIL to the centriole and for STIL-mediated centriole amplification (PubMed:22020124). Acetylation by KAT2A and KAT2B impairs kinase activity by shifting the kinase to an inactive conformation.;Ubiquitinated; leading to its degradation by the proteasome.;Tyrosine-phosphorylated by TEC.;PLK4 is phosphorylated by TEC (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CDC5/Polo subfamily. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 4 +NX_O00445 Synaptotagmin-5 386 42900 9.27 1 Synaptic vesicle membrane;Recycling endosome membrane NA May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Regulates the Ca(2+)-dependent secretion of norepinephrine in PC12 cells. Required for export from the endocytic recycling compartment to the cell surface (By similarity). NA Belongs to the synaptotagmin family. Regulation of insulin secretion PE1 19 +NX_O00451 GDNF family receptor alpha-2 464 51544 8 0 Cytoplasmic vesicle;Cell membrane NA Participates in NRTN-induced 'Ser-727' phosphorylation of STAT3.;Receptor for neurturin. Mediates the NRTN-induced autophosphorylation and activation of the RET receptor. Also able to mediate GDNF signaling through the RET tyrosine kinase receptor. NA Belongs to the GDNFR family. RAF/MAP kinase cascade;NCAM1 interactions;RET signaling PE1 8 +NX_O00453 Leukocyte-specific transcript 1 protein 97 10792 8.43 1 Membrane;Endomembrane system;Golgi apparatus membrane NA Have an inhibitory effect on lymphocyte proliferation.;Possible role in modulating immune responses. Induces morphological changes including production of filopodia and microspikes when overexpressed in a variety of cell types and may be involved in dendritic cell maturation. NA Belongs to the LST1 family. NA PE1 6 +NX_O00458 Interferon-related developmental regulator 1 451 50269 6.8 0 Cytosol;Cell membrane NA Could play a role in regulating gene activity in the proliferative and/or differentiative pathways induced by NGF. May be an autocrine factor that attenuates or amplifies the initial ligand-induced signal (By similarity). NA Belongs to the IFRD family. NA PE1 7 +NX_O00459 Phosphatidylinositol 3-kinase regulatory subunit beta 728 81545 6.03 0 Golgi apparatus Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 Regulatory subunit of phosphoinositide-3-kinase (PI3K), a kinase that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Binds to activated (phosphorylated) protein-tyrosine kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Indirectly regulates autophagy (PubMed:23604317). Promotes nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (By similarity). Ubiquitinated. Polyubiquitination by the SCF(FBXL2) complex probably promotes proteasomal degradation of PIK3R2.;Phosphorylated in response to signaling from activated receptor-type protein kinases (PubMed:19690332, PubMed:20068231). Dephosphorylated by PTPRJ (PubMed:18348712). Dephosphorylated at Tyr-655 by PTPN13. Phosphorylation of Tyr-655 impairs while its dephosphorylation promotes interaction with FBXL2 and SCF(FBXL2)-mediated polyubiquitination (PubMed:23604317). Belongs to the PI3K p85 subunit family. ErbB signaling pathway;Chemokine signaling pathway;Phosphatidylinositol signaling system;mTOR signaling pathway;Apoptosis;VEGF signaling pathway;Osteoclast differentiation;Focal adhesion;Toll-like receptor signaling pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Cholinergic synapse;Regulation of actin cytoskeleton;Insulin signaling pathway;Progesterone-mediated oocyte maturation;Type II diabetes mellitus;Aldosterone-regulated sodium reabsorption;Carbohydrate digestion and absorption;Bacterial invasion of epithelial cells;Chagas disease (American trypanosomiasis);Toxoplasmosis;Amoebiasis;Hepatitis C;Measles;Influenza A;HTLV-I infection;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Melanoma;Chronic myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;G alpha (q) signalling events;Synthesis of PIPs at the plasma membrane;Downstream TCR signaling;PI3K Cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Role of LAT2/NTAL/LAB on calcium mobilization;GPVI-mediated activation cascade;Interleukin-7 signaling;Interleukin receptor SHC signaling;Rho GTPase cycle;DAP12 signaling;VEGFA-VEGFR2 Pathway;CD28 dependent PI3K/Akt signaling;Signaling by SCF-KIT;Role of phospholipids in phagocytosis;Interleukin-3, Interleukin-5 and GM-CSF signaling;Nephrin family interactions;Regulation of signaling by CBL;Tie2 Signaling;Costimulation by the CD28 family;PI3K/AKT activation;Downstream signal transduction;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;RET signaling;IRS-mediated signalling;Extra-nuclear estrogen signaling PE1 19 +NX_O00461 Golgi integral membrane protein 4 696 81880 4.73 1 Golgi stack membrane;Golgi apparatus;Membrane;Endosome membrane NA Plays a role in endosome to Golgi protein trafficking; mediates protein transport along the late endosome-bypass pathway from the early endosome to the Golgi. O-glycosylated; modified by sialic acid residues.;N-glycosylated; N-glycans are probably of the complex type and modified by sialic acid residues.;Phosphorylated probably by c-AMP-dependent kinases in its lumenal part. Belongs to the GOLIM4 family. Intra-Golgi traffic PE1 3 +NX_O00462 Beta-mannosidase 879 100895 5.33 0 Cytoplasmic vesicle;Lysosome Mannosidosis, beta A, lysosomal Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides. NA Belongs to the glycosyl hydrolase 2 family. Glycan metabolism; N-glycan degradation.;Other glycan degradation;Lysosome;Lysosomal oligosaccharide catabolism;Neutrophil degranulation PE1 4 +NX_O00463 TNF receptor-associated factor 5 557 64406 7.26 0 Cytoplasm;Cytosol NA Adapter protein and signal transducer that links members of the tumor necrosis factor receptor family to different signaling pathways by association with the receptor cytoplasmic domain and kinases. Mediates activation of NF-kappa-B and probably JNK. Seems to be involved in apoptosis. Plays a role in mediating activation of NF-kappa-B by EIF2AK2/PKR. NA Belongs to the TNF receptor-associated factor family. A subfamily. Herpes simplex infection;Pathways in cancer;Small cell lung cancer PE1 1 +NX_O00468 Agrin 2068 217320 6.01 0 Cytosol;Extracellular matrix;Synapse;Cell membrane Myasthenic syndrome, congenital, 8 Lack any 'z' insert, are muscle-specific and may be involved in endothelial cell differentiation.;Agrin N-terminal 110 kDa subunit: is involved in regulation of neurite outgrowth probably due to the presence of the glycosaminoglcan (GAG) side chains of heparan and chondroitin sulfate attached to the Ser/Thr- and Gly/Ser-rich regions. Also involved in modulation of growth factor signaling (By similarity).;Neuron-specific (z+) isoforms that contain C-terminal insertions of 8-19 AA are potent activators of AChR clustering.;Transmembrane form that is the predominate form in neurons of the brain, induces dendritic filopodia and synapse formation in mature hippocampal neurons in large part due to the attached glycosaminoglycan chains and the action of Rho-family GTPases.;Agrin (z+8), containing the 8-AA insert, forms a receptor complex in myotubules containing the neuronal AGRN, the muscle-specific kinase MUSK and LRP4, a member of the LDL receptor family. The splicing factors, NOVA1 and NOVA2, regulate AGRN splicing and production of the 'z' isoforms.;Agrin C-terminal 22 kDa fragment: this released fragment is important for agrin signaling and to exert a maximal dendritic filopodia-inducing effect. All 'z' splice variants (z+) of this fragment also show an increase in the number of filopodia.;Heparan sulfate basal lamina glycoprotein that plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ) and directs key events in postsynaptic differentiation. Component of the AGRN-LRP4 receptor complex that induces the phosphorylation and activation of MUSK. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Calcium ions are required for maximal AChR clustering. AGRN function in neurons is highly regulated by alternative splicing, glycan binding and proteolytic processing. Modulates calcium ion homeostasis in neurons, specifically by inducing an increase in cytoplasmic calcium ions. Functions differentially in the central nervous system (CNS) by inhibiting the alpha(3)-subtype of Na+/K+-ATPase and evoking depolarization at CNS synapses. This secreted isoform forms a bridge, after release from motor neurons, to basal lamina through binding laminin via the NtA domain. At synaptic junctions, cleaved at two conserved sites, alpha and beta, by neurotrypsin. Cleavage at the alpha-site produces the agrin N-terminal 110-kDa subunit and the agrin C-terminal 110-kDa subunit. Further cleavage of agrin C-terminal 110-kDa subunit at the beta site produces the C-terminal fragments, agrin C-terminal 90 kDa fragment and agrin C-terminal 22 kDa fragment. Excessive cleavage at the beta-site releases large amounts of the agrin C-terminal 22 kDa fragment leading to destabilization at the neuromuscular junction (NMJ).;Contains heparan and chondroitin sulfate chains and alpha-dystroglycan as well as N-linked and O-linked oligosaccharides. Glycosaminoglycans (GAGs), present in the N-terminal 110 kDa fragment, are required for induction of filopodia in hippocampal neurons. The first cluster (Gly/Ser-rich) for GAG attachment contains heparan sulfate (HS) chains and the second cluster (Ser/Thr-rich), contains chondroitin sulfate (CS) chains. Heparin and heparin sulfate binding in the G3 domain is independent of calcium ions. Binds heparin with a stoichiometry of 2:1. Binds sialic acid with a stoichiometry of 1:1 and binding requires calcium ions (By similarity). NA ECM-receptor interaction;Retinoid metabolism and transport;NCAM1 interactions;HS-GAG biosynthesis;A tetrasaccharide linker sequence is required for GAG synthesis;HS-GAG degradation;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;Defective EXT2 causes exostoses 2;Defective EXT1 causes exostoses 1, TRPS2 and CHDS;Integrin cell surface interactions;ECM proteoglycans;Non-integrin membrane-ECM interactions;Defective B3GALT6 causes EDSP2 and SEMDJL1 PE1 1 +NX_O00469 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 737 84686 6.24 0 Cytosol;Rough endoplasmic reticulum membrane;Nucleolus Bruck syndrome 2 Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links. NA NA Lysine degradation;Collagen biosynthesis and modifying enzymes PE1 3 +NX_O00470 Homeobox protein Meis1 390 43016 5.86 0 Nucleoplasm;Nucleus Restless legs syndrome 7 Acts as a transcriptional regulator of PAX6. Acts as a transcriptional activator of PF4 in complex with PBX1 or PBX2. Required for hematopoiesis, megakaryocyte lineage development and vascular patterning. May function as a cofactor for HOXA7 and HOXA9 in the induction of myeloid leukemias. NA Belongs to the TALE/MEIS homeobox family. Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 2 +NX_O00471 Exocyst complex component 5 708 81853 6.27 0 Cytoplasm;Midbody NA Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. NA Belongs to the SEC10 family. Translocation of SLC2A4 (GLUT4) to the plasma membrane;Insulin processing;VxPx cargo-targeting to cilium PE1 14 +NX_O00472 RNA polymerase II elongation factor ELL2 640 72324 9.09 0 Nucleoplasm;Nucleus NA Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968). Plays a role in immunoglobulin secretion in plasma cells: directs efficient alternative mRNA processing, influencing both proximal poly(A) site choice and exon skipping, as well as immunoglobulin heavy chain (IgH) alternative processing. Probably acts by regulating histone modifications accompanying transition from membrane-specific to secretory IgH mRNA expression. Ubiquitinated by SIAH1, leading to its degradation by the proteaseome. Interaction with AFF4 stabilizeS ELL2 and prevent ELL2 ubiquitination. Belongs to the ELL/occludin family. RNA polymerase II transcribes snRNA genes PE1 5 +NX_O00476 Sodium-dependent phosphate transport protein 4 420 46106 8.69 8 Endoplasmic reticulum membrane;Cell membrane NA Voltage-driven, multispecific, organic anion transporter able to transport para-aminohippurate (PAH), estrone sulfate, estradiol-17-beta-glucuronide, bumetanide, and ochratoxin A.;Functions as urate efflux transporter on the apical side of renal proximal tubule and is likely to act as an exit path for organic anionic drugs as well as urate in vivo. May be involved in actively transporting phosphate into cells via Na(+) cotransport. NA Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. Stimuli-sensing channels PE1 6 +NX_O00478 Butyrophilin subfamily 3 member A3 584 65002 5.37 1 Cell membrane NA Plays a role in T-cell responses in the adaptive immune response. N-glycosylated. Belongs to the immunoglobulin superfamily. BTN/MOG family. Butyrophilin (BTN) family interactions PE1 6 +NX_O00479 High mobility group nucleosome-binding domain-containing protein 4 90 9539 10.48 0 Nucleus NA NA NA Belongs to the HMGN family. NA PE1 6 +NX_O00481 Butyrophilin subfamily 3 member A1 513 57677 8.23 1 Cytoplasmic vesicle;Cell membrane NA Plays a role in T-cell activation and in the adaptive immune response. Regulates the proliferation of activated T-cells. Regulates the release of cytokines and IFNG by activated T-cells. Mediates the response of T-cells toward infected and transformed cells that are characterized by high levels of phosphorylated metabolites, such as isopentenyl pyrophosphate. N-glycosylated. Belongs to the immunoglobulin superfamily. BTN/MOG family. Butyrophilin (BTN) family interactions PE1 6 +NX_O00482 Nuclear receptor subfamily 5 group A member 2 541 61331 8.08 0 Nucleus speckle;Nucleus NA Nuclear receptor that acts as a key metabolic sensor by regulating the expression of genes involved in bile acid synthesis, cholesterol homeostasis and triglyceride synthesis. Together with the oxysterol receptors NR1H3/LXR-alpha and NR1H2/LXR-beta, acts as an essential transcriptional regulator of lipid metabolism. Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex (PubMed:20159957). Binds to the sequence element 5'-AACGACCGACCTTGAG-3' of the enhancer II of hepatitis B virus genes, a critical cis-element of their expression and regulation. May be responsible for the liver-specific activity of enhancer II, probably in combination with other hepatocyte transcription factors. Key regulator of cholesterol 7-alpha-hydroxylase gene (CYP7A) expression in liver. May also contribute to the regulation of pancreas-specific genes and play important roles in embryonic development. Activates the transcription of CYP2C38 (By similarity). Sumoylated by SUMO1 at Lys-270 during the hepatic acute phase response, leading to promote interaction with GPS2 and prevent N-Cor corepressor complex dissociation. Belongs to the nuclear hormone receptor family. NR5 subfamily. Maturity onset diabetes of the young;Regulation of gene expression in early pancreatic precursor cells;Nuclear Receptor transcription pathway;Estrogen-dependent gene expression;SUMOylation of intracellular receptors PE1 1 +NX_O00483 Cytochrome c oxidase subunit NDUFA4 81 9370 9.42 0 Mitochondrion inner membrane Leigh syndrome Cytochrome c oxidase (COX, complex IV) is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. Required for complex IV maintenance. NA Belongs to the complex IV NDUFA4 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 7 +NX_O00487 26S proteasome non-ATPase regulatory subunit 14 310 34577 6.06 0 Nucleoplasm NA Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. The PSMD14 subunit is a metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains within the complex. Plays a role in response to double-strand breaks (DSBs): acts as a regulator of non-homologous end joining (NHEJ) by cleaving 'Lys-63'-linked polyubiquitin, thereby promoting retention of JMJD2A/KDM4A on chromatin and restricting TP53BP1 accumulation. Also involved in homologous recombination repair by promoting RAD51 loading. NA Belongs to the peptidase M67A family. PSMD14 subfamily. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;Metalloprotease DUBs;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neutrophil degranulation;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 2 +NX_O00488 Zinc finger protein 593 134 15199 9.85 0 Nucleoplasm;Nucleolus NA Negatively modulates the DNA binding activity of Oct-2 and therefore its transcriptional regulatory activity. Could act either by binding to DNA octamer or by interacting with Oct-2. May also be a modulator of other octamer-binding proteins. NA Belongs to the ZNF593/BUD20 C2H2-type zinc-finger protein family. NA PE1 1 +NX_O00499 Myc box-dependent-interacting protein 1 593 64699 4.97 0 Cytoplasm;T-tubule;Endosome;Cytosol;Nucleus Myopathy, centronuclear, 2 Is a key player in the control of plasma membrane curvature, membrane shaping and membrane remodeling. Required in muscle cells for the formation of T-tubules, tubular invaginations of the plasma membrane that function in depolarization-contraction coupling (PubMed:24755653). Is a negative regulator of endocytosis (By similarity). Is also involved in the regulation of intracellular vesicles sorting, modulation of BACE1 trafficking and the control of amyloid-beta production (PubMed:27179792). In neuronal circuits, endocytosis regulation may influence the internalization of PHF-tau aggregates (By similarity). May be involved in the regulation of MYC activity and the control cell proliferation (PubMed:8782822). Has actin bundling activity and stabilizes actin filaments against depolymerization in vitro (PubMed:28893863). Phosphorylated by protein kinase C. NA Clathrin-mediated endocytosis PE1 2 +NX_O00501 Claudin-5 218 23147 8.25 4 Tight junction;Cell membrane NA Plays a major role in tight junction-specific obliteration of the intercellular space. NA Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions;RUNX1 regulates expression of components of tight junctions PE1 22 +NX_O00505 Importin subunit alpha-4 521 57811 4.8 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS. Recognizes NLSs of influenza A virus nucleoprotein probably through ARM repeats 7-9. NA Belongs to the importin alpha family. ISG15 antiviral mechanism;NS1 Mediated Effects on Host Pathways PE1 13 +NX_O00506 Serine/threonine-protein kinase 25 426 48112 6.27 0 Golgi apparatus;Cytoplasm NA Oxidant stress-activated serine/threonine kinase that may play a role in the response to environmental stress. Targets to the Golgi apparatus where it appears to regulate protein transport events, cell adhesion, and polarity complexes important for cell migration. NA Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. NA PE1 2 +NX_O00507 Probable ubiquitin carboxyl-terminal hydrolase FAF-Y 2555 291077 5.56 0 Cytoplasmic vesicle;Cytoplasm Spermatogenic failure Y-linked 2 May function as a ubiquitin-protein or polyubiquitin hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Essential component of TGF-beta/BMP signaling cascade. Deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Monoubiquitination of SMAD4 hampers its ability to form a stable complex with activated SMAD2/3 resulting in inhibition of TGF-beta/BMP signaling cascade. Deubiquitination of SMAD4 by USP9X re-empowers its competence to mediate TGF-beta signaling (By similarity). NA Belongs to the peptidase C19 family. NA PE1 Y +NX_O00512 B-cell CLL/lymphoma 9 protein 1426 149290 8.99 0 Nucleoplasm;Nucleus NA Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity (By similarity). NA Belongs to the BCL9 family. Formation of the beta-catenin:TCF transactivating complex;Deactivation of the beta-catenin transactivating complex PE1 1 +NX_O00515 Ladinin-1 517 57131 9.67 0 Basement membrane;Cytoskeleton NA Anchoring filament protein which is a component of the basement membrane zone. NA NA NA PE1 1 +NX_O00519 Fatty-acid amide hydrolase 1 579 63066 7.82 1 Cytosol;Endomembrane system;Cytoskeleton NA Degrades bioactive fatty acid amides like oleamide, the endogenous cannabinoid, anandamide and myristic amide to their corresponding acids, thereby serving to terminate the signaling functions of these molecules. Hydrolyzes polyunsaturated substrate anandamide preferentially as compared to monounsaturated substrates. NA Belongs to the amidase family. Arachidonic acid metabolism PE1 1 +NX_O00522 Krev interaction trapped protein 1 736 84348 8.63 0 Cytoplasmic vesicle;Cell junction;Cytoskeleton;Cell membrane Cerebral cavernous malformations 1 Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity (By similarity). Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis, migration, lumen formation and sprouting angiogenesis in primary endothelial cells. Promotes AKT phosphorylation in a NOTCH-dependent and independent manner, and inhibits ERK1/2 phosphorylation indirectly through activation of the DELTA-NOTCH cascade. Acts in concert with CDH5 to establish and maintain correct endothelial cell polarity and vascular lumen and these effects are mediated by recruitment and activation of the Par polarity complex and RAP1B. Required for the localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction, and cell junction stabilization. Plays a role in integrin signaling via its interaction with ITGB1BP1; this prevents the interaction between ITGB1 and ITGB1BP1. Microtubule-associated protein that binds to phosphatidylinositol 4,5-bisphosphate (PIP2)-containing membranes in a GTP-bound RAP1-dependent manner. Plays an important role in the maintenance of the intracellular reactive oxygen species (ROS) homeostasis to prevent oxidative cellular damage. Regulates the homeostasis of intracellular ROS through an antioxidant pathway involving FOXO1 and SOD2. Facilitates the down-regulation of cyclin-D1 (CCND1) levels required for cell transition from proliferative growth to quiescence by preventing the accumulation of intracellular ROS through the modulation of FOXO1 and SOD2 levels. NA NA NA PE1 7 +NX_O00526 Uroplakin-2 184 19438 10.41 1 Endoplasmic reticulum;Cell membrane NA Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in regulating the assembly of the AUM (By similarity). NA Belongs to the uroplakin-2 family. NA PE1 11 +NX_O00533 Neural cell adhesion molecule L1-like protein 1208 135071 5.51 1 Extracellular matrix;Cell membrane NA Extracellular matrix and cell adhesion protein that plays a role in nervous system development and in synaptic plasticity. Both soluble and membranous forms promote neurite outgrowth of cerebellar and hippocampal neurons and suppress neuronal cell death. Plays a role in neuronal positioning of pyramidal neurons and in regulation of both the number of interneurons and the efficacy of GABAergic synapses. May play a role in regulating cell migration in nerve regeneration and cortical development. Potentiates integrin-dependent cell migration towards extracellular matrix proteins. Recruits ANK3 to the plasma membrane (By similarity). N-glycosylated. Contains N-linked oligosaccharides with a sulfated carbohydrate structure type HNK-1 (SO4-3-GlcUABeta1,3GalBeta1,4GlcNAc) (By similarity).;O-glycosylated.;Cleavage by metalloprotease ADAM8 in the extracellular part generates 2 soluble forms (125 kDa and 165 kDa) in vitro and is inhibited by metalloprotease inhibitors (By similarity). Cleaved by BACE1 (By similarity). Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family. CHL1 interactions PE1 3 +NX_O00534 von Willebrand factor A domain-containing protein 5A 786 86489 6.13 0 Nucleoplasm;Nucleolus NA May play a role in tumorigenesis as a tumor suppressor. Altered expression of this protein and disruption of the molecular pathway it is involved in, may contribute directly to or modify tumorigenesis. NA NA NA PE1 11 +NX_O00541 Pescadillo homolog 588 68003 6.93 0 Nucleoplasm;Nucleolus;Chromosome NA Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome. Sumoylated. Belongs to the pescadillo family. Major pathway of rRNA processing in the nucleolus and cytosol PE1 22 +NX_O00548 Delta-like protein 1 723 78056 5.85 1 Nucleoplasm;Apical cell membrane;Adherens junction;Membrane raft NA Transmembrane ligand protein of NOTCH1, NOTCH2 and NOTCH3 receptors that binds the extracellular domain (ECD) of Notch receptor in a cis and trans fashion manner (PubMed:11006133). Following transinteraction, ligand cells produce mechanical force that depends of a clathrin-mediated endocytosis, requiring ligand ubiquitination, EPN1 interaction, and actin polymerisation; these events promote Notch receptor extracellular domain (NECD) transendocytosis and triggers Notch signaling through induction of cleavage, hyperphosphorylation, and nuclear accumulation of the intracellular domain of Notch receptors (NICD) (By similarity). Is required for embryonic development and maintenance of adult stem cells in many different tissues and immune systeme; the DLL1-induced Notch signaling is mediated through an intercellular communication that regulates cell lineage, cell specification, cell patterning and morphogenesis through effects on differentiation and proliferation (PubMed:11581320). Plays a role in brain development at different level, namely by regulating neuronal differentiation of neural precursor cells via cell-cell interaction, most likely through the lateral inhibitory system in an endogenous level dependent-manner. During neocortex development, Dll1-Notch signaling transmission is mediated by dynamic interactions between intermediate neurogenic progenitors and radial glia; the cell-cell interactions are mediated via dynamic and transient elongation processes, likely to reactivate/maintain Notch activity in neighboring progenitors, and coordinate progenitor cell division and differentiation across radial and zonal boundaries. During cerebellar development, regulates Bergmann glial monolayer formation and its morphological maturation through a Notch signaling pathway. At the retina and spinal cord level, regulates neurogenesis by preventing the premature differentiation of neural progenitors and also by maintaining progenitors in spinal cord through Notch signaling pathway. Also controls neurogenesis of the neural tube in a progenitor domain-specific fashion along the dorsoventral axis. Maintains quiescence of neural stem cells and plays a role as a fate determinant that segregates asymmetrically to one daughter cell during neural stem cells mitosis, resulting in neuronal differentiation in Dll1-inheriting cell. Plays a role in immune systeme development, namely the development of all T-cells and marginal zone (MZ) B-cells (By similarity). Blocks the differentiation of progenitor cells into the B-cell lineage while promoting the emergence of a population of cells with the characteristics of a T-cell/NK-cell precursor (PubMed:11581320). Also plays a role during muscle development. During early development, inhibits myoblasts differentiation from the medial dermomyotomal lip and later regulates progenitor cell differentiation. Directly modulates cell adhesion and basal lamina formation in satellite cells through Notch signaling. Maintains myogenic progenitors pool by suppressing differentiation through down-regulation of MYOD1 and is required for satellite cell homing and PAX7 expression. During craniofacial and trunk myogenesis suppresses differentiation of cranial mesoderm-derived and somite-derived muscle via MYOD1 regulation but in cranial mesoderm-derived progenitors, is neither required for satellite cell homing nor for PAX7 expression. Also plays a role during pancreatic cell development. During type B pancreatic cell development, may be involved in the initiation of proximodistal patterning in the early pancreatic epithelium. Stimulates multipotent pancreatic progenitor cells proliferation and pancreatic growth by maintaining HES1 expression and PTF1A protein levels. During fetal stages of development, is required to maintain arterial identity and the responsiveness of arterial endothelial cells for VEGFA through regulation of KDR activation and NRP1 expression. Controls sprouting angiogenesis and subsequent vertical branch formation througth regulation on tip cell differentiation. Negatively regulates goblet cell differentiation in intestine and controls secretory fat commitment through lateral inhibition in small intestine. Plays a role during inner ear development; negatively regulates auditory hair cell differentiation. Plays a role during nephron development through Notch signaling pathway. Regulates growth, blood pressure and energy homeostasis (By similarity). Ubiquitinated by MIB (MIB1 or MIB2), leading to its endocytosis and subsequent degradation (By similarity). Ubiquitinated; promotes recycling back to the plasma membrane and confers a strong affinity for NOTCH1. Multi-ubiquitination of LYS-613 by MIB1 promotes both cis and trans-interaction with NOTCH1, as well as activation of Notch signaling. Ubiquitinated by NEURL1B (By similarity).;Phosphorylated in a membrane association-dependent manner. Phosphorylation at Ser-697 requires the presence of Ser-694, whereas phosphorylation at Ser-694 occurs independently of the other site. Phosphorylation is required for full ligand activity in vitro and affects surface presentation, ectodomain shedding, and endocytosis.;O-fucosylated. Can be elongated to a disaccharide by MFNG. NA Notch signaling pathway;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activated NOTCH1 Transmits Signal to the Nucleus;Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant;Constitutive Signaling by NOTCH1 HD Domain Mutants;NOTCH2 Activation and Transmission of Signal to the Nucleus;NOTCH3 Activation and Transmission of Signal to the Nucleus;MECP2 regulates transcription of neuronal ligands PE1 6 +NX_O00555 Voltage-dependent P/Q-type calcium channel subunit alpha-1A 2506 282564 9 24 Endoplasmic reticulum;Cell membrane Episodic ataxia 2;Migraine, familial hemiplegic, 1;Epileptic encephalopathy, early infantile, 42;Spinocerebellar ataxia 6 Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by the spider omega-agatoxin-IVA (AC P54282) (By similarity). They are however insensitive to dihydropyridines (DHP). NA Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1A subfamily. MAPK signaling pathway;Calcium signaling pathway;Synaptic vesicle cycle;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Long-term depression;Taste transduction;Type II diabetes mellitus;Presynaptic depolarization and calcium channel opening;Regulation of insulin secretion PE1 19 +NX_O00559 Receptor-binding cancer antigen expressed on SiSo cells 213 24377 6.04 1 Golgi apparatus;Golgi apparatus membrane NA May participate in suppression of cell proliferation and induces apoptotic cell death through activation of interleukin-1-beta converting enzyme (ICE)-like proteases. NA NA Estrogen-dependent gene expression PE1 8 +NX_O00560 Syntenin-1 298 32444 7.06 0 Extracellular exosome;Endoplasmic reticulum membrane;Cell membrane;Adherens junction;Focal adhesion;Nucleus membrane;Nucleoplasm;Melanosome;Cytosol;Membrane raft;Nucleus;Cytoskeleton NA Multifunctional adapter protein involved in diverse array of functions including trafficking of transmembrane proteins, neuro and immunomodulation, exosome biogenesis, and tumorigenesis (PubMed:26291527). Positively regulates TGFB1-mediated SMAD2/3 activation and TGFB1-induced epithelial-to-mesenchymal transition (EMT) and cell migration in various cell types. May increase TGFB1 signaling by enhancing cell-surface expression of TGFR1 by preventing the interaction between TGFR1 and CAV1 and subsequent CAV1-dependent internalization and degradation of TGFR1 (PubMed:25893292). In concert with SDC1/4 and PDCD6IP, regulates exosome biogenesis (PubMed:22660413). Regulates migration, growth, proliferation, and cell cycle progression in a variety of cancer types (PubMed:26539120). In adherens junctions may function to couple syndecans to cytoskeletal proteins or signaling components. Seems to couple transcription factor SOX4 to the IL-5 receptor (IL5RA) (PubMed:11498591). May also play a role in vesicular trafficking (PubMed:11179419). Seems to be required for the targeting of TGFA to the cell surface in the early secretory pathway (PubMed:10230395). Phosphorylated on tyrosine residues. NA Ephrin signaling;Neurofascin interactions;Neutrophil degranulation PE1 8 +NX_O00562 Membrane-associated phosphatidylinositol transfer protein 1 1244 134848 5.64 0 Cytoplasm;Endoplasmic reticulum membrane;Cleavage furrow;Lipid droplet;Golgi stack membrane;Cytosol;Midbody NA Regulates RHOA activity, and plays a role in cytoskeleton remodeling. Necessary for normal completion of cytokinesis. Plays a role in maintaining normal diacylglycerol levels in the Golgi apparatus. Binds phosphatidyl inositol phosphates (in vitro). May catalyze the transfer of phosphatidylinositol and phosphatidylcholine between membranes (By similarity). Necessary for maintaining the normal structure of the endoplasmic reticulum and the Golgi apparatus. Required for protein export from the endoplasmic reticulum and the Golgi. Binds calcium ions. Phosphorylated on threonine residues upon treatment with oleic acid.;Phosphorylated on tyrosine residues by PTK2B.;Phosphorylated on multiple sites by CDK1 at the onset of mitosis. Phosphorylation facilitates dissociation from the Golgi complex and is required for interaction with PLK1. Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily. Synthesis of PI PE1 11 +NX_O00566 U3 small nucleolar ribonucleoprotein protein MPP10 681 78864 4.77 0 Nucleolus;Chromosome NA Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing. Phosphorylated in M (mitotic) phase. Belongs to the MPP10 family. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 2 +NX_O00567 Nucleolar protein 56 594 66050 9.24 0 Nucleoplasm;Cytoplasm;Nucleolus Spinocerebellar ataxia 36 Involved in the early to middle stages of 60S ribosomal subunit biogenesis. Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles. Required for the biogenesis of box C/D snoRNAs such U3, U8 and U14 snoRNAs. NA Belongs to the NOP5/NOP56 family. Ribosome biogenesis in eukaryotes;Association of TriC/CCT with target proteins during biosynthesis;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 20 +NX_O00570 Transcription factor SOX-1 391 39023 9.7 0 Nucleus NA Transcriptional activator. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By similarity). NA NA NA PE1 13 +NX_O00571 ATP-dependent RNA helicase DDX3X 662 73243 6.73 0 Mitochondrion outer membrane;Cytoplasm;Nucleus speckle Mental retardation, X-linked 102 Multifunctional ATP-dependent RNA helicase. The ATPase activity can be stimulated by various ribo- and deoxynucleic acids indicative for a relaxed substrate specificity. In vitro can unwind partially double-stranded DNA with a preference for 5'-single-stranded DNA overhangs. Is involved in several steps of gene expression, such as transcription, mRNA maturation, mRNA export and translation. However, the exact mechanisms are not known and some functions may be specific for a subset of mRNAs. Involved in transcriptional regulation. Can enhance transcription from the CDKN1A/WAF1 promoter in a SP1-dependent manner. Found associated with the E-cadherin promoter and can down-regulate transcription from the promoter. Involved in regulation of translation initiation. Proposed to be involved in positive regulation of translation such as of cyclin E1/CCNE1 mRNA and specifically of mRNAs containing complex secondary structures in their 5'UTRs; these functions seem to require RNA helicase activity. Specifically promotes translation of a subset of viral and cellular mRNAs carrying a 5'proximal stem-loop structure in their 5'UTRs and cooperates with the eIF4F complex. Proposed to act prior to 43S ribosomal scanning and to locally destabilize these RNA structures to allow recognition of the mRNA cap or loading onto the 40S subunit. After association with 40S ribosomal subunits seems to be involved in the functional assembly of 80S ribosomes; the function seems to cover translation of mRNAs with structured and non-structured 5'UTRs and is independent of RNA helicase activity. Also proposed to inhibit cap-dependent translation by competetive interaction with EIF4E which can block the EIF4E:EIF4G complex formation. Proposed to be involved in stress response and stress granule assembly; the function is independent of RNA helicase activity and seems to involve association with EIF4E. May be involved in nuclear export of specific mRNAs but not in bulk mRNA export via interactions with XPO1 and NXF1. Also associates with polyadenylated mRNAs independently of NXF1. Associates with spliced mRNAs in an exon junction complex (EJC)-dependent manner and seems not to be directly involved in splicing. May be involved in nuclear mRNA export by association with DDX5 and regulating its nuclear location. Involved in innate immune signaling promoting the production of type I interferon (IFN-alpha and IFN-beta); proposed to act as viral RNA sensor, signaling intermediate and transcriptional coactivator. Involved in TBK1 and IKBKE-dependent IRF3 activation leading to IFNB induction, plays a role of scaffolding adapter that links IKBKE and IRF3 and coordinates their activation. Also found associated with IFNB promoters; the function is independent of IRF3. Can bind to viral RNAs and via association with MAVS/IPS1 and DDX58/RIG-I is thought to induce signaling in early stages of infection. Involved in regulation of apoptosis. May be required for activation of the intrinsic but inhibit activation of the extrinsic apoptotic pathway. Acts as an antiapoptotic protein through association with GSK3A/B and BIRC2 in an apoptosis antagonizing signaling complex; activation of death receptors promotes caspase-dependent cleavage of BIRC2 and DDX3X and relieves the inhibition. May be involved in mitotic chromosome segregation. Is an allosteric activator of CSNK1E, it stimulates CSNK1E-mediated phosphorylation of DVL2 and is involved in the positive regulation of canonical Wnt signaling (PubMed:23413191).;(Microbial infection) Appears to be a prime target for viral manipulations. Hepatitis B virus (HBV) polymerase and possibly vaccinia virus (VACV) protein K7 inhibit IFNB induction probably by dissociating DDX3X from TBK1 or IKBKE. Is involved in hepatitis C virus (HCV) replication; the function may involve the association with HCV core protein. HCV core protein inhibits the IPS1-dependent function in viral RNA sensing and may switch the function from a INFB inducing to a HCV replication mode. Involved in HIV-1 replication. Acts as a cofactor for XPO1-mediated nuclear export of incompletely spliced HIV-1 Rev RNAs. Phosphorylated by TBK1; the phosphorylation is required to synergize with TBK1 in IFNB induction. Phosphorylated by IKBKE at Ser-102 after ssRNA viral infection; enhances the induction of INFB promoter by IRF3. The cytoplasmic form is highly phosphorylated in the G1/S phase and much lower phosphorylated in G2/M.;DDX3X is phosphorylated by TBK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the DEAD box helicase family. DDX3/DED1 subfamily. RIG-I-like receptor signaling pathway;Neutrophil degranulation PE1 X +NX_O00574 C-X-C chemokine receptor type 6 342 39280 8.28 7 Cell membrane NA Receptor for the C-X-C chemokine CXCL16. Used as a coreceptor by SIVs and by strains of HIV-2 and m-tropic HIV-1. NA Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines PE2 3 +NX_O00584 Ribonuclease T2 256 29481 6.66 0 Secreted;Endoplasmic reticulum lumen;Lysosome lumen Leukoencephalopathy, cystic, without megalencephaly Has ribonuclease activity, with higher activity at acidic pH. Probably is involved in lysosomal degradation of ribosomal RNA (By similarity). Probably plays a role in cellular RNA catabolism. NA Belongs to the RNase T2 family. Neutrophil degranulation PE1 6 +NX_O00585 C-C motif chemokine 21 134 14646 10.13 0 Secreted NA Inhibits hemopoiesis and stimulates chemotaxis. Chemotactic in vitro for thymocytes and activated T-cells, but not for B-cells, macrophages, or neutrophils. Shows preferential activity towards naive T-cells. May play a role in mediating homing of lymphocytes to secondary lymphoid organs. Binds to atypical chemokine receptor ACKR4 and mediates the recruitment of beta-arrestin (ARRB1/2) to ACKR4. NA Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 9 +NX_O00587 Beta-1,3-N-acetylglucosaminyltransferase manic fringe 321 36202 9.01 1 Cytoplasmic vesicle;Golgi apparatus membrane NA Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules (PubMed:10935626). Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity). NA Belongs to the glycosyltransferase 31 family. Other types of O-glycan biosynthesis;Notch signaling pathway;Pre-NOTCH Processing in Golgi PE1 22 +NX_O00590 Atypical chemokine receptor 2 384 43443 7.61 7 Cell membrane;Recycling endosome;Early endosome;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines including CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL17, CCL22, CCL23, CCL24, SCYA2/MCP-1, SCY3/MIP-1-alpha, SCYA5/RANTES and SCYA7/MCP-3. Upon active ligand stimulation, activates a beta-arrestin 1 (ARRB1)-dependent, G protein-independent signaling pathway that results in the phosphorylation of the actin-binding protein cofilin (CFL1) through a RAC1-PAK1-LIMK1 signaling pathway. Activation of this pathway results in up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. By scavenging chemokines in tissues, on the surfaces of lymphatic vessels, and in placenta, plays an essential role in the resolution (termination) of the inflammatory response and in the regulation of adaptive immune responses. Plays a major role in the immune silencing of macrophages during the resolution of inflammation. Acts as a regulator of inflammatory leukocyte interactions with lymphatic endothelial cells (LECs) and is required for immature/mature dendritic cells discrimination by LECs. Phosphorylated on serine residues in the C-terminal cytoplasmic tail. Belongs to the G-protein coupled receptor 1 family. Atypical chemokine receptor subfamily. NA PE1 3 +NX_O00591 Gamma-aminobutyric acid receptor subunit pi 440 50640 6.55 4 Postsynaptic cell membrane;Cell membrane NA GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRP sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse PE1 5 +NX_O00592 Podocalyxin 558 58635 5.28 1 Cell membrane;Centriolar satellite;Membrane;Lamellipodium;Filopodium;Ruffle;Cytoplasmic vesicle;Apical cell membrane;Microvillus;Membrane raft NA Involved in the regulation of both adhesion and cell morphology and cancer progression. Function as an anti-adhesive molecule that maintains an open filtration pathway between neighboring foot processes in the podocyte by charge repulsion. Acts as a pro-adhesive molecule, enhancing the adherence of cells to immobilized ligands, increasing the rate of migration and cell-cell contacts in an integrin-dependent manner. Induces the formation of apical actin-dependent microvilli. Involved in the formation of a preapical plasma membrane subdomain to set up initial epithelial polarization and the apical lumen formation during renal tubulogenesis. Plays a role in cancer development and aggressiveness by inducing cell migration and invasion through its interaction with the actin-binding protein EZR. Affects EZR-dependent signaling events, leading to increased activities of the MAPK and PI3K pathways in cancer cells. N- and O-linked glycosylated. Sialoglycoprotein (By similarity). Belongs to the podocalyxin family. NA PE1 7 +NX_O00602 Ficolin-1 326 35078 6.39 0 Secreted;Cell membrane NA Extracellular lectin functioning as a pattern-recognition receptor in innate immunity. Binds the sugar moieties of pathogen-associated molecular patterns (PAMPs) displayed on microbes and activates the lectin pathway of the complement system. May also activate monocytes through a G protein-coupled receptor, FFAR2, inducing the secretion of interleukin-8/IL-8 (PubMed:21037097). Binds preferentially to 9-O-acetylated 2-6-linked sialic acid derivatives and to various glycans containing sialic acid engaged in a 2-3 linkage. NA Belongs to the ficolin lectin family. Initial triggering of complement;Lectin pathway of complement activation;Ficolins bind to repetitive carbohydrate structures on the target cell surface;Neutrophil degranulation PE1 9 +NX_O00622 CCN family member 1 381 42027 8.64 0 Secreted NA Promotes cell proliferation, chemotaxis, angiogenesis and cell adhesion. Appears to play a role in wound healing by up-regulating, in skin fibroblasts, the expression of a number of genes involved in angiogenesis, inflammation and matrix remodeling including VEGA-A, VEGA-C, MMP1, MMP3, TIMP1, uPA, PAI-1 and integrins alpha-3 and alpha-5. CCN1-mediated gene regulation is dependent on heparin-binding. Down-regulates the expression of alpha-1 and alpha-2 subunits of collagen type-1. Promotes cell adhesion and adhesive signaling through integrin alpha-6/beta-1, cell migration through integrin alpha-v/beta-5 and cell proliferation through integrin alpha-v/beta-3. NA Belongs to the CCN family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 1 +NX_O00623 Peroxisome assembly protein 12 359 40797 9.21 2 Peroxisome membrane Peroxisome biogenesis disorder complementation group 3;Peroxisome biogenesis disorder 3A;Peroxisome biogenesis disorder 3B Required for protein import into peroxisomes. NA Belongs to the pex2/pex10/pex12 family. Peroxisome;E3 ubiquitin ligases ubiquitinate target proteins;Peroxisomal protein import;Class I peroxisomal membrane protein import PE1 17 +NX_O00624 Sodium-dependent phosphate transport protein 3 439 47277 8.85 9 Membrane NA May be involved in actively transporting phosphate into cells via Na(+) cotransport. NA Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. NA PE1 6 +NX_O00625 Pirin 290 32113 6.42 0 Cytoplasm;Cytosol;Nucleus NA Transcriptional coregulator of NF-kappa-B which facilitates binding of NF-kappa-B proteins to target kappa-B genes in a redox-state-dependent manner. May be required for efficient terminal myeloid maturation of hematopoietic cells. Has quercetin 2,3-dioxygenase activity (in vitro). NA Belongs to the pirin family. Flavonoid metabolism; quercetin degradation.;Digestion PE1 X +NX_O00626 C-C motif chemokine 22 93 10625 8.8 0 Secreted NA May play a role in the trafficking of activated/effector T-lymphocytes to inflammatory sites and other aspects of activated T-lymphocyte physiology. Chemotactic for monocytes, dendritic cells and natural killer cells. Mild chemoattractant for primary activated T-lymphocytes and a potent chemoattractant for chronically activated T-lymphocytes but has no chemoattractant activity for neutrophils, eosinophils, and resting T-lymphocytes. Binds to CCR4. Processed forms MDC(3-69), MDC(5-69) and MDC(7-69) seem not be active. The N-terminal processed forms MDC(3-69), MDC(5-69) and MDC(7-69) are produced by proteolytic cleavage after secretion from monocyte derived dendrocytes. Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling PE1 16 +NX_O00628 Peroxisomal targeting signal 2 receptor 323 35892 5.41 0 Peroxisome;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle Rhizomelic chondrodysplasia punctata 1;Peroxisome biogenesis disorder complementation group 11;Peroxisome biogenesis disorder 9B Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import. NA Belongs to the WD repeat peroxin-7 family. Peroxisome;Peroxisomal protein import PE1 6 +NX_O00629 Importin subunit alpha-3 521 57887 4.8 0 Cytoplasm;Nucleoplasm;Nucleus NA Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS. NA Belongs to the importin alpha family. ISG15 antiviral mechanism;NS1 Mediated Effects on Host Pathways PE1 3 +NX_O00631 Sarcolipin 31 3762 8.34 1 Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane;Cytoskeleton NA Reversibly inhibits the activity of ATP2A1 in sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in muscle. Required for muscle-based, non-shivering thermogenesis (By similarity). NA Belongs to the sarcolipin family. Ion transport by P-type ATPases;Ion homeostasis PE1 11 +NX_O00634 Netrin-3 580 61466 9.2 0 Extracellular matrix NA Netrins control guidance of CNS commissural axons and peripheral motor axons. NA NA Axon guidance;Myogenesis PE1 16 +NX_O00635 E3 ubiquitin-protein ligase TRIM38 465 53416 6.61 0 Cell junction;Centrosome;Cell membrane NA E3 ubiquitin-protein ligase. Mediates 'Lys-48'-linked polyubiquitination and proteasomal degradation of the critical TLR adapter TICAM1, inhibiting TLR3-mediated type I interferon signaling. NA NA Protein modification; protein ubiquitination.;Interferon gamma signaling PE1 6 +NX_O00712 Nuclear factor 1 B-type 420 47442 9.01 0 Nucleoplasm;Nucleolus;Nucleus Macrocephaly, acquired, with impaired intellectual development Transcriptional activator of GFAP, essential for proper brain development (PubMed:30388402). Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication. NA Belongs to the CTF/NF-I family. RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation PE1 9 +NX_O00716 Transcription factor E2F3 465 49162 5.29 0 Nucleoplasm;Cytosol;Nucleus speckle;Nucleus NA Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F3 binds specifically to RB1 in a cell-cycle dependent manner. Inhibits adipogenesis, probably through the repression of CEBPA binding to its target gene promoters (By similarity). NA Belongs to the E2F/DP family. Cell cycle;HTLV-I infection;Pathways in cancer;Pancreatic cancer;Glioma;Prostate cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;Oxidative Stress Induced Senescence;CDC6 association with the ORC:origin complex;Pre-NOTCH Transcription and Translation;Oncogene Induced Senescence;Cyclin D associated events in G1;G2 Phase PE1 6 +NX_O00743 Serine/threonine-protein phosphatase 6 catalytic subunit 305 35144 5.43 0 Cytoplasm;Mitochondrion NA Catalytic subunit of protein phosphatase 6 (PP6) (PubMed:17079228, PubMed:29053956). PP6 is a component of a signaling pathway regulating cell cycle progression in response to IL2 receptor stimulation (PubMed:10227379). N-terminal domain restricts G1 to S phase progression in cancer cells, in part through control of cyclin D1 (PubMed:17568194). During mitosis, regulates spindle positioning (PubMed:27335426). Downregulates MAP3K7 kinase activation of the IL1 signaling pathway by dephosphorylation of MAP3K7 (PubMed:17079228). Participates also in the innate immune defense against viruses by desphosphorylating RIG-I/DDX58, an essential step that triggers RIG-I/DDX58-mediated signaling activation (PubMed:29053956). NA Belongs to the PPP phosphatase family. PP-6 (PP-V) subfamily. COPII-mediated vesicle transport PE1 9 +NX_O00744 Protein Wnt-10b 389 43000 9.37 0 Golgi apparatus;Extracellular matrix;Secreted Split-hand/foot malformation 6;Tooth agenesis, selective, 8 Member of the Wnt ligand gene family that encodes for secreted proteins, which activate the Wnt signaling cascade. Specifically activates canonical Wnt/beta-catenin signaling and thus triggers beta-catenin/LEF/TCF-mediated transcriptional programs. Involved in signaling networks controlling stemness, pluripotency and cell fate decisions. Acts in the immune system, mammary gland, adipose tissue, bone and skin. Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Belongs to the Wnt family. WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors);Transcriptional regulation of white adipocyte differentiation PE1 12 +NX_O00746 Nucleoside diphosphate kinase, mitochondrial 187 20659 10.3 0 Mitochondrion matrix;Mitochondrion intermembrane space;Mitochondrion NA Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Through the catalyzed exchange of gamma-phosphate between di- and triphosphonucleosides participates in regulation of intracellular nucleotide homeostasis (PubMed:10799505). Binds to anionic phospholipids, predominantly to cardiolipin; the binding inhibits its phosphotransfer activity (PubMed:18635542, PubMed:23150663). Acts as mitochondria-specific NDK; its association with cardiolipin-containing mitochondrial inner membrane is coupled to respiration suggesting that ADP locally regenerated in the mitochondrion innermembrane space by its activity is directly taken up via ANT ADP/ATP translocase into the matrix space to stimulate respiratory ATP regeneration (PubMed:18635542). Proposed to increase GTP-loading on dynamin-related GTPase OPA1 in mitochondria (PubMed:24970086). In vitro can induce liposome cross-linking suggesting that it can cross-link inner and outer membranes to form contact sites, and promotes intermembrane migration of anionic phosphoplipids. Promotes the redistribution of cardiolipin between the mitochondrial inner membrane and outer membrane which is implicated in pro-apoptotic signaling (PubMed:18635542, PubMed:17028143, PubMed:23150663). NA Belongs to the NDK family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;Interconversion of nucleotide di- and triphosphates PE1 16 +NX_O00748 Cocaine esterase 559 61807 5.71 0 Golgi apparatus;Endoplasmic reticulum;Cytosol;Endoplasmic reticulum lumen NA Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs (PubMed:9169443). Shows high catalytic efficiency for hydrolysis of cocaine, 4-methylumbelliferyl acetate, heroin and 6-monoacetylmorphine (PubMed:9169443). Hydrolyzes aspirin, substrates with large alcohol group and small acyl group and endogenous lipids such as triacylglycerol (PubMed:28677105). Glycosylated. Belongs to the type-B carboxylesterase/lipase family. Drug metabolism - other enzymes;Phase I - Functionalization of compounds PE1 16 +NX_O00750 Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta 1634 184768 6.95 0 Microsome;Cell membrane;Nucleoplasm;Endoplasmic reticulum;Cytosol;Nucleus NA Phosphorylates PtdIns and PtdIns4P with a preference for PtdIns. Does not phosphorylate PtdIns(4,5)P2. May be involved in EGF and PDGF signaling cascades. NA Belongs to the PI3/PI4-kinase family. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PIPs at the plasma membrane PE1 1 +NX_O00754 Lysosomal alpha-mannosidase 1011 113744 6.84 0 Cytoplasmic vesicle;Nucleoplasm;Lysosome Mannosidosis, alpha B, lysosomal Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages. First processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). The 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked.;Heavily glycosylated. Belongs to the glycosyl hydrolase 38 family. Other glycan degradation;Lysosome;Lysosomal oligosaccharide catabolism;Neutrophil degranulation PE1 19 +NX_O00755 Protein Wnt-7a 349 39005 9.05 0 Extracellular matrix;Secreted Limb pelvis hypoplasia aplasia syndrome;Fuhrmann syndrome Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays an important role in embryonic development, including dorsal versus ventral patterning during limb development, skeleton development and urogenital tract development (PubMed:16826533). Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation (PubMed:30026314). Required for normal, sexually dimorphic development of the Mullerian ducts, and for normal fertility in both sexes (By similarity). Required for normal neural stem cell proliferation in the hippocampus dentate gyrus (By similarity). Required for normal progress through the cell cycle in neural progenitor cells, for self-renewal of neural stem cells, and for normal neuronal differentiation and maturation (By similarity). Promotes formation of synapses via its interaction with FZD5 (By similarity). Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Belongs to the Wnt family. Wnt signaling pathway;Hedgehog signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors) PE1 3 +NX_O00757 Fructose-1,6-bisphosphatase isozyme 2 339 36743 6.84 0 Cytoplasm;Cell membrane;Cell junction;Nucleoplasm;Z line;Nucleus NA Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations and probably participates in glycogen synthesis from carbohydrate precursors, such as lactate. NA Belongs to the FBPase class 1 family. Carbohydrate biosynthesis; gluconeogenesis.;Glycolysis / Gluconeogenesis;Pentose phosphate pathway;Fructose and mannose metabolism;Metabolic pathways;Insulin signaling pathway;Gluconeogenesis PE1 9 +NX_O00762 Ubiquitin-conjugating enzyme E2 C 179 19652 6.83 0 Cytosol;Cell membrane NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitination. Acts as an essential factor of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated ubiquitin ligase that controls progression through mitosis. Acts by initiating 'Lys-11'-linked polyubiquitin chains on APC/C substrates, leading to the degradation of APC/C substrates by the proteasome and promoting mitotic exit. Autoubiquitinated by the APC/C complex, leading to its degradation by the proteasome. Its degradation plays a central role in APC/C regulation, allowing cyclin-A accumulation before S phase entry. APC/C substrates inhibit the autoubiquitination of UBE2C/UBCH10 but not its E2 function, hence APC/C remaining active until its substrates have been destroyed. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;CDK-mediated phosphorylation and removal of Cdc6;Antigen processing: Ubiquitination & Proteasome degradation;Senescence-Associated Secretory Phenotype (SASP);Autodegradation of Cdh1 by Cdh1:APC/C;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of Cyclin B;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;APC/C:Cdc20 mediated degradation of mitotic proteins;Phosphorylation of the APC/C;APC-Cdc20 mediated degradation of Nek2A;Synthesis of active ubiquitin: roles of E1 and E2 enzymes PE1 20 +NX_O00763 Acetyl-CoA carboxylase 2 2458 276541 6.05 0 Endomembrane system;Mitochondrion;Nucleus NA Catalyzes the ATP-dependent carboxylation of acetyl-CoA to malonyl-CoA (PubMed:20457939, PubMed:19236960, PubMed:20952656). Carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase (PubMed:20457939, PubMed:19236960, PubMed:20952656). Involved in inhibition of fatty acid and glucose oxidation and enhancement of fat storage (By similarity). May play a role in regulation of mitochondrial fatty acid oxidation through malonyl-CoA-dependent inhibition of carnitine palmitoyltransferase 1 (By similarity). Phosphorylated by AMPK, leading to inactivation of the enzyme. Required for the maintenance of skeletal muscle lipid and glucose homeostasis (By similarity). NA Lipid metabolism; malonyl-CoA biosynthesis; malonyl-CoA from acetyl-CoA: step 1/1.;Fatty acid biosynthesis;Pyruvate metabolism;Propanoate metabolism;Metabolic pathways;Insulin signaling pathway;Adipocytokine signaling pathway;ChREBP activates metabolic gene expression;Activation of gene expression by SREBF (SREBP);Import of palmitoyl-CoA into the mitochondrial matrix;Biotin transport and metabolism PE1 12 +NX_O00764 Pyridoxal kinase 312 35102 5.75 0 Nucleoplasm;Cytoplasm NA Required for synthesis of pyridoxal-5-phosphate from vitamin B6. NA Belongs to the pyridoxine kinase family. Vitamin B6 metabolism;Metabolic pathways;Vitamins B6 activation to pyridoxal phosphate;Neutrophil degranulation PE1 21 +NX_O00767 Acyl-CoA desaturase 359 41523 9.07 4 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Stearyl-CoA desaturase that utilizes O(2) and electrons from reduced cytochrome b5 to introduce the first double bond into saturated fatty acyl-CoA substrates (PubMed:15907797, PubMed:18765284). Catalyzes the insertion of a cis double bond at the delta-9 position into fatty acyl-CoA substrates including palmitoyl-CoA and stearoyl-CoA (PubMed:15907797, PubMed:18765284). Gives rise to a mixture of 16:1 and 18:1 unsaturated fatty acids (PubMed:15610069). Plays an important role in lipid biosynthesis. Plays an important role in regulating the expression of genes that are involved in lipogenesis and in regulating mitochondrial fatty acid oxidation (By similarity). Plays an important role in body energy homeostasis (By similarity). Contributes to the biosynthesis of membrane phospholipids, cholesterol esters and triglycerides (By similarity). NA Belongs to the fatty acid desaturase type 1 family. Biosynthesis of unsaturated fatty acids;PPAR signaling pathway;Activation of gene expression by SREBF (SREBP);Fatty acyl-CoA biosynthesis PE1 10 +NX_O14490 Disks large-associated protein 1 977 108873 6.66 0 Postsynaptic density;Synapse;Cell membrane NA Part of the postsynaptic scaffold in neuronal cells. NA Belongs to the SAPAP family. Glutamatergic synapse;Neurexins and neuroligins PE1 18 +NX_O14492 SH2B adapter protein 2 632 67738 5.85 0 Cytoplasm;Cytosol;Cell membrane NA Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways. May be involved in coupling from immunoreceptor to Ras signaling. Acts as a negative regulator of cytokine signaling in collaboration with CBL. Binds to EPOR and suppresses EPO-induced STAT5 activation, possibly through a masking effect on STAT5 docking sites in EPOR. Suppresses PDGF-induced mitogenesis. May induce cytoskeletal reorganization via interaction with VAV3. Tyrosine phosphorylated by JAK2, KIT and other kinases activated by B-cell receptor in response to stimulation with cytokines, IL3, IL5, PDGF, IGF1, IGF2, CSF2/GM-CSF and cross-linking of the B-cell receptor complex.;SH2B2 is phosphorylated by LYN (Phosphotyrosine:PTM-0255) Belongs to the SH2B adapter family. Neurotrophin signaling pathway;Insulin signaling pathway;Factors involved in megakaryocyte development and platelet production;Regulation of KIT signaling PE1 7 +NX_O14493 Claudin-4 209 22077 8.38 4 Tight junction;Cell membrane NA Channel-forming tight junction protein that mediates paracellular chloride transport in the kidney. Plays a critical role in the paracellular reabsorption of filtered chloride in the kidney collecting ducts. Claudins play a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Phosphorylated. Phosphorylation by EPHA2 is stimulated by EFNA1 and alters interaction with TJP1. Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE1 7 +NX_O14494 Phospholipid phosphatase 1 284 32156 8.1 6 Cell membrane NA Broad-specificity phosphohydrolase that dephosphorylates exogenous bioactive glycerolipids and sphingolipids. Catalyzes the conversion of phosphatidic acid (PA) to diacylglycerol (DG). Pivotal regulator of lysophosphatidic acid (LPA) signaling in the cardiovascular system. Major enzyme responsible of dephosphorylating LPA in platelets, which terminates signaling actions of LPA. May control circulating, and possibly also regulate localized, LPA levels resulting from platelet activation. It has little activity towards ceramide-1-phosphate (C-1-P) and sphingosine-1-phosphate (S-1-P). The relative catalytic efficiency is LPA > PA > S-1-P > C-1-P. It's down-regulation may contribute to the development of colon adenocarcinoma. N-glycosylated. Contains high-mannose oligosaccharides. Belongs to the PA-phosphatase related phosphoesterase family. Glycerolipid metabolism;Glycerophospholipid metabolism;Ether lipid metabolism;Sphingolipid metabolism;Metabolic pathways;Fc gamma R-mediated phagocytosis;Fat digestion and absorption;Sphingolipid de novo biosynthesis PE1 5 +NX_O14495 Phospholipid phosphatase 3 311 35116 9.31 6 Golgi apparatus;trans-Golgi network membrane;Cell membrane NA Catalyzes the conversion of phosphatidic acid (PA) to diacylglycerol (DG). In addition it hydrolyzes lysophosphatidic acid (LPA), ceramide-1-phosphate (C-1-P) and sphingosine-1-phosphate (S-1-P). The relative catalytic efficiency is LPA = PA > C-1-P > S-1-P. May be involved in cell adhesion and in cell-cell interactions. N-glycosylated. Contains high-mannose oligosaccharides. Belongs to the PA-phosphatase related phosphoesterase family. Glycerolipid metabolism;Glycerophospholipid metabolism;Ether lipid metabolism;Sphingolipid metabolism;Metabolic pathways;Fc gamma R-mediated phagocytosis;Fat digestion and absorption;Sphingolipid de novo biosynthesis PE1 1 +NX_O14497 AT-rich interactive domain-containing protein 1A 2285 242045 6.24 0 Nucleoplasm;Nucleus Coffin-Siris syndrome 2 Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). NA NA RMTs methylate histone arginines;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 1 +NX_O14498 Immunoglobulin superfamily containing leucine-rich repeat protein 428 45997 5 0 Golgi apparatus;Secreted;Cell membrane NA NA NA NA Platelet degranulation PE1 15 +NX_O14503 Class E basic helix-loop-helix protein 40 412 45510 8.3 0 Cytoplasm;Nucleus NA Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes (PubMed:12397359, PubMed:18411297). Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop) (PubMed:14672706). Both these loops are interlocked as it represses the expression of PER1/2 and in turn is repressed by PER1/2 and CRY1/2 (PubMed:15193144). Represses the activity of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer by competing for the binding to E-box elements (5'-CACGTG-3') found within the promoters of its target genes (PubMed:15560782). Negatively regulates its own expression and the expression of DBP and BHLHE41/DEC2 (PubMed:14672706). Acts as a corepressor of RXR and the RXR-LXR heterodimers and represses the ligand-induced RXRA and NR1H3/LXRA transactivation activity (PubMed:19786558). May be involved in the regulation of chondrocyte differentiation via the cAMP pathway (PubMed:19786558). Represses the transcription of NR0B2 and attentuates the transactivation of NR0B2 by the CLOCK-ARNTL/BMAL1 complex (PubMed:28797635). Drives the circadian rhythm of blood pressure through transcriptional repression of ATP1B1 in the cardiovascular system (PubMed:30012868). Sumoylation inhibits its ubiquitination and promotes its negative regulation of the CLOCK-ARNTL/BMAL1 heterodimer transcriptional activator activity.;Ubiquitinated; which may lead to proteasomal degradation. NA Circadian rhythm - mammal;BMAL1:CLOCK,NPAS2 activates circadian gene expression PE1 3 +NX_O14508 Suppressor of cytokine signaling 2 198 22172 8.9 0 Endoplasmic reticulum NA SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. SOCS2 appears to be a negative regulator in the growth hormone/IGF1 signaling pathway. Probable substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA NA Protein modification; protein ubiquitination.;Jak-STAT signaling pathway;Insulin signaling pathway;Type II diabetes mellitus;Interleukin-7 signaling;Growth hormone receptor signaling;Neddylation PE1 12 +NX_O14511 Pro-neuregulin-2, membrane-bound isoform 850 91679 9.51 1 Nucleoplasm;Secreted;Nucleolus;Cell membrane NA Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. May also promote the heterodimerization with the EGF receptor. Extensive glycosylation precedes the proteolytic cleavage.;Proteolytic cleavage close to the plasma membrane on the external face leads to the release of the soluble growth factor form. Belongs to the neuregulin family. ErbB signaling pathway;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Signaling by ERBB2;Signaling by ERBB4;SHC1 events in ERBB2 signaling;PI3K events in ERBB4 signaling;SHC1 events in ERBB4 signaling;Nuclear signaling by ERBB4;GRB2 events in ERBB2 signaling;PI3K events in ERBB2 signaling;GRB7 events in ERBB2 signaling;Downregulation of ERBB2:ERBB3 signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;ERBB2 Regulates Cell Motility;ERBB2 Activates PTK6 Signaling;Downregulation of ERBB2 signaling PE1 5 +NX_O14512 Suppressor of cytokine signaling 7 581 62969 8.35 0 Cytoplasm;Cytosol;Nucleus;Cell membrane NA Regulates signaling cascades probably through protein ubiquitination and/or sequestration. Functions in insulin signaling and glucose homeostasis through IRS1 ubiquitination and subsequent proteasomal degradation. Inhibits also prolactin, growth hormone and leptin signaling by preventing STAT3 and STAT5 activation, sequestering them in the cytoplasm and reducing their binding to DNA. May be a substrate recognition component of a SCF-like E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity). NA NA Protein modification; protein ubiquitination.;Jak-STAT signaling pathway PE1 17 +NX_O14513 Nck-associated protein 5 1909 208537 8.34 0 Golgi apparatus;Cytosol;Nucleolus;Cell membrane NA NA NA NA NA PE1 2 +NX_O14514 Adhesion G protein-coupled receptor B1 1584 173501 8.27 7 Dendritic spine;Cell membrane;Focal adhesion;Secreted;Phagocytic cup;Postsynaptic density NA Vasculostatin-120: Inhibits angiogenesis in a CD36-dependent manner.;Phosphatidylserine receptor which enhances the engulfment of apoptotic cells (PubMed:24509909). Also mediates the binding and engulfment of Gram-negative bacteria (PubMed:26838550). Stimulates production of reactive oxygen species by macrophages in response to Gram-negative bacteria, resulting in enhanced microbicidal macrophage activity (PubMed:26838550). In the gastric mucosa, required for recognition and engulfment of apoptotic gastric epithelial cells (PubMed:24509909). Promotes myoblast fusion (By similarity). Activates the Rho pathway in a G-protein-dependent manner (PubMed:23782696). Inhibits MDM2-mediated ubiquitination and degradation of DLG4/PSD95, promoting DLG4 stability and regulating synaptic plasticity (By similarity). Required for the formation of dendritic spines by ensuring the correct localization of PARD3 and TIAM1 (By similarity). Potent inhibitor of angiogenesis in brain and may play a significant role as a mediator of the p53/TP53 signal in suppression of glioblastoma (PubMed:11875720).;Vasculostatin-40: Inhibits angiogenesis. Ubiquitinated.;Proteolytically cleaved to produce vasculostatin-40 and vasculostatin-120 (PubMed:15782143, PubMed:22333914, PubMed:22330140). Vasculostatin-40 is the major form and is produced through proteolytic cleavage by MMP14 between residues 321 and 329 with cleavage likely to be between Ser-326 and Leu-327 (PubMed:22330140). Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. p53 signaling pathway PE1 8 +NX_O14519 Cyclin-dependent kinase 2-associated protein 1 115 12365 9.41 0 Nucleoplasm NA Specific inhibitor of the cell-cycle kinase CDK2. Phosphorylated in vitro by IKBKE at Ser-46. Belongs to the CDK2AP family. NA PE1 12 +NX_O14520 Aquaporin-7 342 37232 9.04 5 Cytoplasmic vesicle membrane;Cell cortex;Lipid droplet;Cell membrane NA Forms a channel that mediates water and glycerol transport across cell membranes at neutral pH (PubMed:9405233, PubMed:11952783, PubMed:30423801, PubMed:30420639). The channel is also permeable to urea (PubMed:9405233). Plays an important role in body energy homeostasis under conditions that promote lipid catabolism, giving rise to glycerol and free fatty acids. Mediates glycerol export from adipocytes. After release into the blood stream, glycerol is used for gluconeogenesis in the liver to maintain normal blood glucose levels and prevent fasting hypoglycemia. Required for normal glycerol reabsorption in the kidney (By similarity). NA Belongs to the MIP/aquaporin (TC 1.A.8) family. PPAR signaling pathway;Transport of glycerol from adipocytes to the liver by Aquaporins;Passive transport by Aquaporins PE1 9 +NX_O14521 Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial 159 17043 8.92 3 Mitochondrion inner membrane Pheochromocytoma;Paragangliomas 1;Mitochondrial complex II deficiency;Paraganglioma and gastric stromal sarcoma Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). NA Belongs to the CybS family. Carbohydrate metabolism; tricarboxylic acid cycle.;Citrate cycle (TCA cycle);Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Citric acid cycle (TCA cycle) PE1 11 +NX_O14522 Receptor-type tyrosine-protein phosphatase T 1441 162134 6.44 1 Membrane NA May be involved in both signal transduction and cellular adhesion in the CNS. NA Belongs to the protein-tyrosine phosphatase family. Receptor class 2B subfamily. NA PE1 20 +NX_O14523 Phospholipid transfer protein C2CD2L 706 76181 7.61 1 Endoplasmic reticulum membrane;Cell membrane;Nucleolus;Nucleus membrane;Nucleoplasm;Cytosol NA Lipid-binding protein that transports phosphatidylinositol, the precursor of phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), from its site of synthesis in the endoplasmic reticulum to the cell membrane (PubMed:28209843). It thereby maintains the pool of cell membrane phosphoinositides, which are degraded during phospholipase C (PLC) signaling (PubMed:28209843). Plays a key role in the coordination of Ca(2+) and phosphoinositide signaling: localizes to sites of contact between the endoplasmic reticulum and the cell membrane, where it tethers the two bilayers (PubMed:28209843). In response to elevation of cytosolic Ca(2+), it is phosphorylated at its C-terminus and dissociates from the cell membrane, abolishing phosphatidylinositol transport to the cell membrane (PubMed:28209843). Positively regulates insulin secretion in response to glucose: phosphatidylinositol transfer to the cell membrane allows replenishment of PI(4,5)P2 pools and calcium channel opening, priming a new population of insulin granules (PubMed:28209843). Phosphorylation at the C-terminus acidifies the protein and leads to disassociation from the acidic cell membrane. Reassociates with the cell membrane upon dephosphorylation. NA NA PE1 11 +NX_O14524 Nuclear envelope integral membrane protein 1 444 50640 6.56 5 Nucleus inner membrane;Nucleoplasm;Nucleus envelope NA NA Phosphorylation may regulate its interaction with RAN-GTP. Belongs to the NEMP family. NA PE1 12 +NX_O14525 Astrotactin-1 1302 144913 5.09 2 Clathrin-coated vesicle;Golgi apparatus;Cell membrane;Perikaryon;Endosome;Cytoplasmic vesicle NA Neuronal adhesion molecule that is required for normal migration of young postmitotic neuroblasts along glial fibers, especially in the cerebellum. Required for normal rate of migration of granule cells during brain development and for normal cerebellum development. NA Belongs to the astrotactin family. NA PE1 1 +NX_O14526 F-BAR domain only protein 1 889 96861 6.51 0 Nucleoplasm;Cytosol;Clathrin-coated pit NA Functions in an early step of clathrin-mediated endocytosis. Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. May regulate Bmp signaling by regulating clathrin-mediated endocytosis of Bmp receptors. NA Belongs to the FCHO family. Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 19 +NX_O14529 Homeobox protein cut-like 2 1486 161677 5.38 0 Nucleus Epileptic encephalopathy, early infantile, 67 Transcription factor involved in the control of neuronal proliferation and differentiation in the brain. Regulates dendrite development and branching, dendritic spine formation, and synaptogenesis in cortical layers II-III. Binds to DNA in a sequence-specific manner. NA Belongs to the CUT homeobox family. NA PE1 12 +NX_O14530 Thioredoxin domain-containing protein 9 226 26534 5.61 0 Cytoplasm;Nucleus;Centrosome;Cytosol;Midbody NA Significantly diminishes the chaperonin TCP1 complex ATPase activity, thus negatively impacts protein folding, including that of actin or tubulin. NA NA NA PE1 2 +NX_O14531 Dihydropyrimidinase-related protein 4 572 61878 6.64 0 Cytoplasmic vesicle;Cytoplasm;Mitochondrion NA Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, neuronal growth cone collapse and cell migration (By similarity). NA Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family. CRMPs in Sema3A signaling PE1 10 +NX_O14543 Suppressor of cytokine signaling 3 225 24770 8.97 0 Cytosol;Cell membrane NA SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. SOCS3 is involved in negative regulation of cytokines that signal through the JAK/STAT pathway. Inhibits cytokine signal transduction by binding to tyrosine kinase receptors including gp130, LIF, erythropoietin, insulin, IL12, GCSF and leptin receptors. Binding to JAK2 inhibits its kinase activity. Suppresses fetal liver erythropoiesis. Regulates onset and maintenance of allergic responses mediated by T-helper type 2 cells. Regulates IL-6 signaling in vivo (By similarity). Probable substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Seems to recognize IL6ST (By similarity). Phosphorylated on tyrosine residues after stimulation by the cytokines, IL-2, EPO or IGF1.;SOCS3 is phosphorylated by IGF1R (Phosphotyrosine:PTM-0255);SOCS3 is phosphorylated by PIM1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Osteoclast differentiation;Jak-STAT signaling pathway;Insulin signaling pathway;Adipocytokine signaling pathway;Type II diabetes mellitus;Hepatitis C;Influenza A;Herpes simplex infection;Antigen processing: Ubiquitination & Proteasome degradation;Interferon gamma signaling;Interferon alpha/beta signaling;Regulation of IFNA signaling;Growth hormone receptor signaling;Regulation of IFNG signaling;Interleukin-6 signaling;Signaling by Leptin;PTK6 Activates STAT3;Interleukin-4 and Interleukin-13 signaling;Neddylation;RUNX1 regulates transcription of genes involved in differentiation of keratinocytes PE1 17 +NX_O14544 Suppressor of cytokine signaling 6 535 59528 6.79 0 Cytosol;Nucleus speckle NA SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. May be a substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity). Regulates KIT degradation by ubiquitination of the tyrosine-phosphorylated receptor. SOCS6 is phosphorylated by PIM3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Protein modification; protein ubiquitination.;Regulation of KIT signaling;Neddylation PE1 18 +NX_O14545 TRAF-type zinc finger domain-containing protein 1 582 64841 5.19 0 Nucleoplasm;Cytosol NA Negative feedback regulator that controls excessive innate immune responses. Regulates both Toll-like receptor 4 (TLR4) and DDX58/RIG1-like helicases (RLH) pathways. May inhibit the LTR pathway by direct interaction with TRAF6 and attenuation of NF-kappa-B activation. May negatively regulate the RLH pathway downstream from MAVS and upstream of NF-kappa-B and IRF3 (By similarity). NA NA NA PE1 12 +NX_O14548 Cytochrome c oxidase subunit 7A-related protein, mitochondrial 114 12615 9.43 0 Mitochondrion inner membrane;Mitochondrion;Nucleolus NA Involved in the regulation of oxidative phosphorylation and energy metabolism (By similarity). Necessary for the assembly of mitochondrial respiratory supercomplex (By similarity). NA Belongs to the cytochrome c oxidase VIIa family. Oxidative phosphorylation;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 2 +NX_O14556 Glyceraldehyde-3-phosphate dehydrogenase, testis-specific 408 44501 8.39 0 Cytoplasm;Nucleoplasm;Centrosome NA May play an important role in regulating the switch between different pathways for energy production during spermiogenesis and in the spermatozoon. Required for sperm motility and male fertility (By similarity). NA Belongs to the glyceraldehyde-3-phosphate dehydrogenase family. Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 1/5.;Glycolysis / Gluconeogenesis;Metabolic pathways;Glycolysis;Association of TriC/CCT with target proteins during biosynthesis;Gluconeogenesis PE1 19 +NX_O14558 Heat shock protein beta-6 160 17136 5.95 0 Golgi apparatus;Cytoplasm;Secreted;Nucleolus;Cytosol;Nucleus NA Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state. Seems to have versatile functions in various biological processes. Plays a role in regulating muscle function such as smooth muscle vasorelaxation and cardiac myocyte contractility. May regulate myocardial angiogenesis implicating KDR. Overexpression mediates cardioprotection and angiogenesis after induced damage. Stabilizes monomeric YWHAZ thereby supporting YWHAZ chaperone-like activity. Phosphorylated at Ser-16 by PKA and probably PKD1K; required to protect cardiomyocytes from apoptosis.;The N-terminus is blocked. Belongs to the small heat shock protein (HSP20) family. NA PE1 19 +NX_O14559 Rho GTPase-activating protein 33 1287 137213 9.05 0 Cytosol;Cytoskeleton;Cell membrane NA May be involved in several stages of intracellular trafficking. Could play an important role in the regulation of glucose transport by insulin. May act as a downstream effector of RHOQ/TC10 in the regulation of insulin-stimulated glucose transport (By similarity). ARHGAP33 is phosphorylated by NEK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the PX domain-containing GAP family. Rho GTPase cycle PE1 19 +NX_O14561 Acyl carrier protein, mitochondrial 156 17417 4.82 0 Nucleoplasm;Mitochondrion NA Carrier of the growing fatty acid chain in fatty acid biosynthesis (By similarity). Accessory and non-catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain (PubMed:27626371). NA Belongs to the acyl carrier protein (ACP) family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Glyoxylate metabolism and glycine degradation;Mitochondrial Fatty Acid Beta-Oxidation;Complex I biogenesis PE1 16 +NX_O14562 Ubiquitin domain-containing protein UBFD1 309 33382 5.55 0 Nucleoplasm;Nucleolus NA May play a role as NF-kappa-B regulator. NA NA NA PE1 16 +NX_O14569 Cytochrome b561 domain-containing protein 2 222 23974 9.93 6 Cytoplasmic vesicle membrane;Endoplasmic reticulum membrane NA Two-heme-containing cytochrome that catalyzes ascorbate-dependent trans-membrane ferric-chelate reduction. NA NA NA PE1 3 +NX_O14576 Cytoplasmic dynein 1 intermediate chain 1 645 72955 5 0 Cytoplasm;Spindle pole;Kinetochore NA Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCNT1. May play a role in mediating the interaction of cytoplasmic dynein with membranous organelles and kinetochores. NA Belongs to the dynein intermediate chain family. Phagosome;Vasopressin-regulated water reabsorption;Salmonella infection;Separation of Sister Chromatids;MHC class II antigen presentation;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 7 +NX_O14578 Citron Rho-interacting kinase 2027 231431 6.16 0 Cytoplasm;Cytosol Microcephaly 17, primary, autosomal recessive Plays a role in cytokinesis. Required for KIF14 localization to the central spindle and midbody. Putative RHO/RAC effector that binds to the GTP-bound forms of RHO and RAC1. It probably binds p21 with a tighter specificity in vivo. Displays serine/threonine protein kinase activity. Plays an important role in the regulation of cytokinesis and the development of the central nervous system. Phosphorylates MYL9/MLC2. NA Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. RHO GTPases activate CIT PE1 12 +NX_O14579 Coatomer subunit epsilon 308 34482 4.98 0 Golgi apparatus;Cytoplasm;COPI-coated vesicle membrane;Golgi apparatus membrane NA The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated with ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity). Polyubiquitinated by RCHY1 in the presence of androgen, leading to proteasomal degradation.;Phosphorylated by PKA. Belongs to the COPE family. COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 19 +NX_O14581 Olfactory receptor 7A17 309 34013 6.48 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 19 +NX_O14593 DNA-binding protein RFXANK 260 28102 4.45 0 Cytoplasm;Nucleoplasm;Nucleus Bare lymphocyte syndrome 2 Is not involved in the positive regulation of MHC class II genes.;Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters (PubMed:9806546, PubMed:10072068, PubMed:10725724). May also potentiate the activation of RAF1 (By similarity). Phosphorylated by RAF1. NA Antigen processing and presentation;Tuberculosis;Primary immunodeficiency PE1 19 +NX_O14594 Neurocan core protein 1321 143093 5.22 0 Secreted NA May modulate neuronal adhesion and neurite growth during development by binding to neural cell adhesion molecules (NG-CAM and N-CAM). Chondroitin sulfate proteoglycan; binds to hyaluronic acid. O-glycosylated. Belongs to the aggrecan/versican proteoglycan family. Chondroitin sulfate biosynthesis;NCAM1 interactions;A tetrasaccharide linker sequence is required for GAG synthesis;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;ECM proteoglycans;Dermatan sulfate biosynthesis;L1CAM interactions;CS/DS degradation;Defective CHST3 causes SEDCJD;Defective CHST14 causes EDS, musculocontractural type;Defective CHSY1 causes TPBS;Defective B3GALT6 causes EDSP2 and SEMDJL1 PE1 19 +NX_O14595 Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 271 30664 5.34 0 Nucleoplasm;Mitochondrion;Nucleus NA Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation. Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells. May contribute to the development of sarcomas. NA NA XBP1(S) activates chaperone genes PE1 12 +NX_O14598 Testis-specific basic protein Y 1 125 12917 9.43 0 NA NA May mediate a process in spermatogenesis or may play a role in sex ratio distortion. NA Belongs to the VCX/VCY family. NA PE1 Y +NX_O14599 Testis-specific basic protein Y 2 106 12063 10.19 0 NA NA NA NA Belongs to the VCX/VCY family. NA PE1 Y +NX_O14602 Eukaryotic translation initiation factor 1A, Y-chromosomal 144 16442 5.07 0 NA NA Seems to be required for maximal rate of protein biosynthesis. Enhances ribosome dissociation into subunits and stabilizes the binding of the initiator Met-tRNA(I) to 40 S ribosomal subunits (By similarity). NA Belongs to the eIF-1A family. RNA transport PE1 Y +NX_O14603 PTPN13-like protein, Y-linked 147 16512 8.27 0 NA NA NA NA NA NA PE1 Y +NX_O14604 Thymosin beta-4, Y-chromosomal 44 5013 5.34 0 Cytoskeleton NA Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity). NA Belongs to the thymosin beta family. Regulation of actin cytoskeleton PE1 Y +NX_O14607 Histone demethylase UTY 1347 149548 7.91 0 Nucleus NA Male-specific histone demethylase that catalyzes trimethylated 'Lys-27' (H3K27me3) demethylation in histone H3. Has relatively low lysine demethylase activity. NA Belongs to the UTX family. HDMs demethylate histones PE1 Y +NX_O14609 Testis-specific XK-related protein, Y-linked 159 18083 6.56 3 Membrane NA NA NA Belongs to the XK family. NA PE2 Y +NX_O14610 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 69 7747 6.27 0 Cell membrane NA Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. NA Belongs to the G protein gamma family. Chemokine signaling pathway;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;G alpha (i) signalling events;G alpha (q) signalling events;G alpha (s) signalling events;G beta:gamma signalling through PI3Kgamma;G alpha (12/13) signalling events;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;G-protein activation;ADP signalling through P2Y purinoceptor 12;Prostacyclin signalling through prostacyclin receptor;Adrenaline,noradrenaline inhibits insulin secretion;Ca2+ pathway;G beta:gamma signalling through PLC beta;ADP signalling through P2Y purinoceptor 1;G alpha (z) signalling events;Glucagon-type ligand receptors;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Presynaptic function of Kainate receptors;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling;G beta:gamma signalling through BTK;G beta:gamma signalling through CDC42 PE1 17 +NX_O14613 Cdc42 effector protein 2 210 22484 4.94 0 Cytosol;Endomembrane system;Cytoskeleton NA Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts in a CDC42-dependent manner. NA Belongs to the BORG/CEP family. MAPK6/MAPK4 signaling PE1 11 +NX_O14617 AP-3 complex subunit delta-1 1153 130158 8.69 0 Cytoplasm;Cytosol;Golgi apparatus membrane Hermansky-Pudlak syndrome 10 Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. Involved in process of CD8+ T-cell and NK cell degranulation (PubMed:26744459). In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals (By similarity). NA Belongs to the adaptor complexes large subunit family. Lysosome PE1 19 +NX_O14618 Copper chaperone for superoxide dismutase 274 29041 5.32 0 Cytoplasm NA Delivers copper to copper zinc superoxide dismutase (SOD1). Ubiquitinion by XIAP/BIRC4 leads to enhancement of its chaperone activity toward its physiologic target, SOD1, rather than proteasomal degradation. XIAP/BIRC4 preferentially ubiquitinates at Lys-241. In the C-terminal section; belongs to the Cu-Zn superoxide dismutase family. Amyotrophic lateral sclerosis (ALS);Detoxification of Reactive Oxygen Species PE1 11 +NX_O14625 C-X-C motif chemokine 11 94 10365 9.94 0 Secreted NA Chemotactic for interleukin-activated T-cells but not unstimulated T-cells, neutrophils or monocytes. Induces calcium release in activated T-cells. Binds to CXCR3. May play an important role in CNS diseases which involve T-cell recruitment. May play a role in skin immune responses. NA Belongs to the intercrine alpha (chemokine CxC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Toll-like receptor signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 4 +NX_O14626 Probable G-protein coupled receptor 171 319 36754 9.1 7 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 3 +NX_O14627 Homeobox protein CDX-4 284 30480 9.03 0 Nucleus NA NA NA Belongs to the Caudal homeobox family. NA PE1 X +NX_O14628 Zinc finger protein 195 629 72332 8.45 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 11 +NX_O14633 Late cornified envelope protein 2B 110 11219 8.54 0 NA NA Precursors of the cornified envelope of the stratum corneum. NA Belongs to the LCE family. Formation of the cornified envelope PE1 1 +NX_O14638 Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 875 100124 6.12 1 Apical cell membrane;Secreted;Cell membrane NA Hydrolase that metabolizes extracellular nucleotides, including ATP, GTP, UTP and CTP (PubMed:29717535). Limits mast cell and basophil responses during inflammation and during the chronic phases of allergic responses by eliminating the extracellular ATP that functions as signaling molecule and activates basophils and mast cells and induces the release of inflammatory cytokines. Metabolizes extracellular ATP in the lumen of the small intestine, and thereby prevents ATP-induced apoptosis of intestinal plasmacytoid dendritic cells (By similarity). Has also alkaline phosphodiesterase activity (PubMed:11342463). N-glycosylated. N-glycosylation is necessary for normal transport to the cell membrane, but is not the apical targeting signal. Belongs to the nucleotide pyrophosphatase/phosphodiesterase family. Purine metabolism;Starch and sucrose metabolism;Riboflavin metabolism;Nicotinate and nicotinamide metabolism;Pantothenate and CoA biosynthesis;Metabolic pathways;Vitamin B5 (pantothenate) metabolism PE1 6 +NX_O14639 Actin-binding LIM protein 1 778 87688 8.91 0 Cytoplasm;Cytosol;Cytoskeleton NA May act as scaffold protein (By similarity). May play a role in the development of the retina. Has been suggested to play a role in axon guidance. ABLIM1 is phosphorylated by MAPK8 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Axon guidance;DCC mediated attractive signaling PE1 10 +NX_O14640 Segment polarity protein dishevelled homolog DVL-1 695 75187 7.69 0 Cytoplasmic vesicle;Cytosol;Cell membrane Robinow syndrome, autosomal dominant 2 Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ). Ubiquitinated; undergoes both 'Lys-48'-linked ubiquitination, leading to its subsequent degradation by the ubiquitin-proteasome pathway, and 'Lys-63'-linked ubiquitination. The interaction with INVS is required for ubiquitination. Deubiquitinated by CYLD, which acts on 'Lys-63'-linked ubiquitin chains (By similarity). Belongs to the DSH family. Wnt signaling pathway;Notch signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;Degradation of DVL;RHO GTPases Activate Formins;TCF dependent signaling in response to WNT;PCP/CE pathway;Disassembly of the destruction complex and recruitment of AXIN to the membrane;WNT mediated activation of DVL;Negative regulation of TCF-dependent signaling by DVL-interacting proteins PE1 1 +NX_O14641 Segment polarity protein dishevelled homolog DVL-2 736 78948 5.67 0 Cell membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Participates both in canonical and non-canonical Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Promotes internalization and degradation of frizzled proteins upon Wnt signaling. Phosphorylated by CSNK1D (PubMed:21422228, PubMed:9192851). WNT3A induces DVL2 phosphorylation by CSNK1E and MARK kinases (PubMed:25805136). Belongs to the DSH family. Wnt signaling pathway;Notch signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;Asymmetric localization of PCP proteins;Degradation of DVL;Signaling by Hippo;RHO GTPases Activate Formins;TCF dependent signaling in response to WNT;PCP/CE pathway;WNT5A-dependent internalization of FZD4;Disassembly of the destruction complex and recruitment of AXIN to the membrane;WNT mediated activation of DVL;Negative regulation of TCF-dependent signaling by DVL-interacting proteins;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 17 +NX_O14645 Axonemal dynein light intermediate polypeptide 1 258 29662 8.73 0 Cilium NA May play a dynamic role in flagellar motility. NA Belongs to the inner dynein arm light chain family. Huntington's disease PE1 1 +NX_O14646 Chromodomain-helicase-DNA-binding protein 1 1710 196688 6.68 0 Nucleoplasm;Nucleolus;Cytoplasm;Nucleus Pilarowski-Bjornsson syndrome ATP-dependent chromatin-remodeling factor which functions as substrate recognition component of the transcription regulatory histone acetylation (HAT) complex SAGA. Regulates polymerase II transcription. Also required for efficient transcription by RNA polymerase I, and more specifically the polymerase I transcription termination step. Regulates negatively DNA replication. Not only involved in transcription-related chromatin-remodeling, but also required to maintain a specific chromatin configuration across the genome. Is also associated with histone deacetylase (HDAC) activity (By similarity). Required for the bridging of SNF2, the FACT complex, the PAF complex as well as the U2 snRNP complex to H3K4me3. Functions to modulate the efficiency of pre-mRNA splicing in part through physical bridging of spliceosomal components to H3K4me3 (PubMed:18042460, PubMed:28866611). Required for maintaining open chromatin and pluripotency in embryonic stem cells (By similarity). NA Belongs to the SNF2/RAD54 helicase family. Estrogen-dependent gene expression PE1 5 +NX_O14647 Chromodomain-helicase-DNA-binding protein 2 1828 211344 8.22 0 Nucleoplasm;Nucleus Epileptic encephalopathy, childhood-onset DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression (By similarity). NA Belongs to the SNF2/RAD54 helicase family. NA PE1 15 +NX_O14649 Potassium channel subfamily K member 3 394 43518 9.26 4 Cell membrane Pulmonary hypertension, primary, 4 PH-dependent, voltage-insensitive, background potassium channel protein. Rectification direction results from potassium ion concentration on either side of the membrane. Acts as an outward rectifier when external potassium concentration is low. When external potassium concentration is high, current is inward. NA Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. TWIK-releated acid-sensitive K+ channel (TASK);Phase 4 - resting membrane potential PE1 2 +NX_O14653 Golgi SNAP receptor complex member 2 212 24775 7.86 1 Golgi apparatus;Endoplasmic reticulum membrane;cis-Golgi network membrane;Nucleoplasm;Golgi apparatus membrane Epilepsy, progressive myoclonic 6 Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network. NA Belongs to the GOSR2 family. SNARE interactions in vesicular transport;XBP1(S) activates chaperone genes;COPII-mediated vesicle transport;Cargo concentration in the ER;Intra-Golgi traffic;COPI-mediated anterograde transport PE1 17 +NX_O14654 Insulin receptor substrate 4 1257 133768 8.72 0 Cell membrane NA Acts as an interface between multiple growth factor receptors possessing tyrosine kinase activity, such as insulin receptor, IGF1R and FGFR1, and a complex network of intracellular signaling molecules containing SH2 domains. Involved in the IGF1R mitogenic signaling pathway. Promotes the AKT1 signaling pathway and BAD phosphorylation during insulin stimulation without activation of RPS6KB1 or the inhibition of apoptosis. Interaction with GRB2 enhances insulin-stimulated mitogen-activated protein kinase activity. May be involved in nonreceptor tyrosine kinase signaling in myoblasts. Plays a pivotal role in the proliferation/differentiation of hepatoblastoma cell through EPHB2 activation upon IGF1 stimulation. May play a role in the signal transduction in response to insulin and to a lesser extent in response to IL4 and GH on mitogenesis. Plays a role in growth, reproduction and glucose homeostasis. May act as negative regulators of the IGF1 signaling pathway by suppressing the function of IRS1 and IRS2. Phosphorylated on tyrosine residues in response to both insulin and IGF1 signaling. Phosphorylated on Tyr-921 in response to FGF2 signaling. Phosphorylation of Tyr-921 is required for GRB2, phospholipase C-gamma and phosphatidylinositol 3-kinase interaction. NA Neurotrophin signaling pathway;Insulin signaling pathway;Adipocytokine signaling pathway;Type II diabetes mellitus;Aldosterone-regulated sodium reabsorption;IRS-related events triggered by IGF1R PE1 X +NX_O14656 Torsin-1A 332 37809 6.51 0 Growth cone;Nucleus membrane;Cytoplasmic vesicle membrane;Cytoplasmic vesicle;Endoplasmic reticulum lumen;Synaptic vesicle;Secretory vesicle;Cytoskeleton Dystonia 1, torsion, autosomal dominant Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regulation of synaptic vesicle recycling, controls STON2 protein stability in collaboration with the COP9 signalosome complex (CSN). In the nucleus, may link the cytoskeleton with the nuclear envelope, this mechanism seems to be crucial for the control of nuclear polarity, cell movement and, specifically in neurons, nuclear envelope integrity. Participates in the cellular trafficking and may regulate the subcellular location of multipass membrane proteins such as the dopamine transporter SLC6A3, leading to the modulation of dopamine neurotransmission. In the endoplasmic reticulum, plays a role in the quality control of protein folding by increasing clearance of misfolded proteins such as SGCE variants or holding them in an intermediate state for proper refolding. May have a redundant function with TOR1B in non-neural tissues. N-glycosylated. Belongs to the ClpA/ClpB family. Torsin subfamily. Cargo recognition for clathrin-mediated endocytosis PE1 9 +NX_O14657 Torsin-1B 336 37979 8.76 0 Cytosol;Endoplasmic reticulum lumen;Nucleus speckle;Nucleus membrane NA May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins. Plays a role in non-neural cells nuclear envelope and endoplasmic reticulum integrity. May have a redundant function with TOR1A in non-neural tissues. N-glycosylated. Belongs to the ClpA/ClpB family. Torsin subfamily. Cargo recognition for clathrin-mediated endocytosis PE1 9 +NX_O14662 Syntaxin-16 325 37031 5.75 1 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus membrane Pseudohypoparathyroidism 1B SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network. NA Belongs to the syntaxin family. SNARE interactions in vesicular transport;Intra-Golgi traffic;Retrograde transport at the Trans-Golgi-Network PE1 20 +NX_O14668 Transmembrane gamma-carboxyglutamic acid protein 1 218 24947 5.13 1 Cytoplasmic vesicle;Nucleoplasm;Membrane;Cell membrane NA NA Gla residues are produced after subsequent post-translational modifications of glutamate by a vitamin K-dependent gamma-carboxylase. NA NA PE1 X +NX_O14669 Transmembrane gamma-carboxyglutamic acid protein 2 202 22393 5.22 1 Membrane;Nucleoplasm;Cytosol;Nucleolus NA NA Gla residues are produced after subsequent post-translational modifications of glutamate by a vitamin K-dependent gamma-carboxylase. NA NA PE1 19 +NX_O14672 Disintegrin and metalloproteinase domain-containing protein 10 748 84142 8.04 1 Cytoplasm;Clathrin-coated vesicle;Cell membrane;Adherens junction;Nucleoplasm;Golgi apparatus membrane;Cytoplasmic vesicle;Axon;Dendrite Alzheimer disease 18;Reticulate acropigmentation of Kitamura Cleaves the membrane-bound precursor of TNF-alpha at '76-Ala-|-Val-77' to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface (PubMed:20592283). Responsible for the proteolytic release of several other cell-surface proteins, including heparin-binding epidermal growth-like factor, ephrin-A2, CD44, CDH2 and for constitutive and regulated alpha-secretase cleavage of amyloid precursor protein (APP) (PubMed:26686862, PubMed:11786905, PubMed:29224781). Contributes to the normal cleavage of the cellular prion protein (PubMed:11477090). Involved in the cleavage of the adhesion molecule L1 at the cell surface and in released membrane vesicles, suggesting a vesicle-based protease activity (PubMed:12475894). Controls also the proteolytic processing of Notch and mediates lateral inhibition during neurogenesis (By similarity). Responsible for the FasL ectodomain shedding and for the generation of the remnant ADAM10-processed FasL (FasL APL) transmembrane form (PubMed:17557115). Also cleaves the ectodomain of the integral membrane proteins CORIN and ITM2B (PubMed:19114711, PubMed:21288900). Mediates the proteolytic cleavage of LAG3, leading to release the secreted form of LAG3 (By similarity). Enhances the cleavage of CHL1 by BACE1 (By similarity). Cleaves NRCAM (By similarity). Cleaves TREM2, resulting in shedding of the TREM2 ectodomain (PubMed:24990881). Involved in the development and maturation of glomerular and coronary vasculature (By similarity). During development of the cochlear organ of Corti, promotes pillar cell separation by forming a ternary complex with CADH1 and EPHA4 and cleaving CADH1 at adherens junctions (By similarity). May regulate the EFNA5-EPHA3 signaling (PubMed:16239146).;(Microbial infection) Promotes the cytotoxic activity of S.aureus hly by binding to the toxin at zonula adherens and promoting formation of toxin pores. The precursor is cleaved by furin and PCSK7. NA Alzheimer's disease;Epithelial cell signaling in Helicobacter pylori infection;Degradation of the extracellular matrix;EPH-ephrin mediated repulsion of cells;Amyloid fiber formation;Collagen degradation;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Activated NOTCH1 Transmits Signal to the Nucleus;Signaling by EGFR;Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant;Constitutive Signaling by NOTCH1 HD Domain Mutants;NOTCH2 Activation and Transmission of Signal to the Nucleus;Neutrophil degranulation;Post-translational protein phosphorylation;NOTCH3 Activation and Transmission of Signal to the Nucleus;NOTCH4 Activation and Transmission of Signal to the Nucleus PE1 15 +NX_O14678 ATP-binding cassette sub-family D member 4 606 68597 6.12 5 Peroxisome membrane Methylmalonic aciduria and homocystinuria type cblJ May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm. NA Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. ABC transporters;Peroxisome;Cobalamin (Cbl, vitamin B12) transport and metabolism;Defective ABCD4 causes methylmalonic aciduria and homocystinuria, cblj type (MAHCJ) PE1 14 +NX_O14681 Etoposide-induced protein 2.4 homolog 340 38965 9.75 5 Golgi apparatus;Cytoplasm;Endoplasmic reticulum membrane;Nucleus membrane;Endoplasmic reticulum;Cytosol NA Acts as a negative growth regulator via p53-mediated apoptosis pathway. Regulates formation of degradative autolysosomes during autophagy (By similarity). NA Belongs to the EI24 family. p53 signaling pathway PE1 11 +NX_O14682 Ectoderm-neural cortex protein 1 589 66130 6.4 0 Cytoplasm;Nucleus matrix;Cell membrane;Cytoskeleton NA Actin-binding protein involved in the regulation of neuronal process formation and in differentiation of neural crest cells. Down-regulates transcription factor NF2L2/NRF2 by decreasing the rate of protein synthesis and not via a ubiquitin-mediated proteasomal degradation mechanism. Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for proteasome-independent degradation. Quinone-induced oxidative stress increases its ubiquitination. NA NA PE1 5 +NX_O14683 Tumor protein p53-inducible protein 11 189 21054 9.57 4 Membrane;Golgi apparatus;Endoplasmic reticulum NA NA NA NA NA PE1 11 +NX_O14684 Prostaglandin E synthase 152 17102 9.59 4 Membrane;Endoplasmic reticulum NA Catalyzes the oxidoreduction of prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2). NA Belongs to the MAPEG family. Arachidonic acid metabolism;Metabolic pathways;Synthesis of Prostaglandins (PG) and Thromboxanes (TX) PE1 9 +NX_O14686 Histone-lysine N-methyltransferase 2D 5537 593389 5.4 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane Kabuki syndrome 1 Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily. Lysine degradation;PKMTs methylate histone lysines;Formation of the beta-catenin:TCF transactivating complex;Deactivation of the beta-catenin transactivating complex;Activation of anterior HOX genes in hindbrain development during early embryogenesis;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 12 +NX_O14709 Zinc finger protein 197 1029 118847 8.91 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 3 +NX_O14713 Integrin beta-1-binding protein 1 200 21782 5.95 0 Cytoplasm;Cell membrane;Centriolar satellite;Nucleoplasm;Lamellipodium;Ruffle;Cytosol;Nucleus;Cytoskeleton NA Key regulator of the integrin-mediated cell-matrix interaction signaling by binding to the ITGB1 cytoplasmic tail and preventing the activation of integrin alpha-5/beta-1 (heterodimer of ITGA5 and ITGB1) by talin or FERMT1. Plays a role in cell proliferation, differentiation, spreading, adhesion and migration in the context of mineralization and bone development and angiogenesis. Stimulates cellular proliferation in a fibronectin-dependent manner. Involved in the regulation of beta-1 integrin-containing focal adhesion (FA) site dynamics by controlling its assembly rate during cell adhesion; inhibits beta-1 integrin clustering within FA by directly competing with talin TLN1, and hence stimulates osteoblast spreading and migration in a fibronectin-and/or collagen-dependent manner. Acts as a guanine nucleotide dissociation inhibitor (GDI) by regulating Rho family GTPases during integrin-mediated cell matrix adhesion; reduces the level of active GTP-bound form of both CDC42 and RAC1 GTPases upon cell adhesion to fibronectin. Stimulates the release of active CDC42 from the membranes to maintain it in an inactive cytoplasmic pool. Participates in the translocation of the Rho-associated protein kinase ROCK1 to membrane ruffles at cell leading edges of the cell membrane, leading to an increase of myoblast cell migration on laminin. Plays a role in bone mineralization at a late stage of osteoblast differentiation; modulates the dynamic formation of focal adhesions into fibrillar adhesions, which are adhesive structures responsible for fibronectin deposition and fibrillogenesis. Plays a role in blood vessel development; acts as a negative regulator of angiogenesis by attenuating endothelial cell proliferation and migration, lumen formation and sprouting angiogenesis by promoting AKT phosphorylation and inhibiting ERK1/2 phosphorylation through activation of the Notch signaling pathway. Promotes transcriptional activity of the MYC promoter. Phosphorylation at Thr-38 seems to enhance integrin alpha5beta1-mediated cell adhesion. The degree of phosphorylation is regulated by integrin-dependent cell-matrix interaction. NA NA PE1 2 +NX_O14715 RANBP2-like and GRIP domain-containing protein 8 1765 198993 6.09 0 NA NA NA NA NA NA PE1 2 +NX_O14717 tRNA (cytosine(38)-C(5))-methyltransferase 391 44597 5.78 0 Nucleoplasm;Cytoplasm;Centrosome;Nucleolus NA Specifically methylates cytosine 38 in the anticodon loop of tRNA(Asp). NA Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family. tRNA modification in the nucleus and cytosol PE1 10 +NX_O14718 Visual pigment-like receptor peropsin 337 37423 8.78 7 Membrane NA May play a role in rpe physiology either by detecting light directly or by monitoring the concentration of retinoids or other photoreceptor-derived compounds. NA Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. G alpha (i) signalling events;Opsins PE1 4 +NX_O14727 Apoptotic protease-activating factor 1 1248 141840 5.96 0 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus NA Is less effective in inducing apoptosis.;Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis. This activation requires ATP. NA NA p53 signaling pathway;Apoptosis;Alzheimer's disease;Parkinson's disease;Amyotrophic lateral sclerosis (ALS);Huntington's disease;Legionellosis;Tuberculosis;Small cell lung cancer;Formation of apoptosome;Activation of caspases through apoptosome-mediated cleavage;SMAC (DIABLO) binds to IAPs;SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes;TP53 Regulates Transcription of Caspase Activators and Caspases;Neutrophil degranulation;Transcriptional Regulation by E2F6;Regulation of the apoptosome activity PE1 12 +NX_O14730 Serine/threonine-protein kinase RIO3 519 59093 5.52 0 Golgi apparatus;Cytoplasm;Cell membrane;Centriolar satellite;Cytosol NA Involved in regulation of type I interferon (IFN)-dependent immune response which plays a critical role in the innate immune response against DNA and RNA viruses. May act as an adapter protein essential for the recruitment of TBK1 to IRF3 (PubMed:24807708). Phosphorylates IFIH1 on 'Ser-828' interfering with IFIH1 filament assembly on long dsRNA and resulting in attenuated IFIH1-signaling (PubMed:25865883). Can inhibit CASP10 isoform 7-mediated activation of the NF-kappaB signaling pathway (PubMed:19557502). May play a role in the biogenesis of the 40S ribosomal subunit. Involved in the processing of 21S pre-rRNA to the mature 18S rRNA (PubMed:22418843). Autophosphorylated (in vitro). Belongs to the protein kinase superfamily. RIO-type Ser/Thr kinase family. Major pathway of rRNA processing in the nucleolus and cytosol PE1 18 +NX_O14732 Inositol monophosphatase 2 288 31321 6.15 0 Nucleoplasm;Mitochondrion NA Can use myo-inositol monophosphates, scylloinositol 1,4-diphosphate, glucose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. Has been implicated as the pharmacological target for lithium Li(+) action in brain. NA Belongs to the inositol monophosphatase superfamily. Polyol metabolism; myo-inositol biosynthesis; myo-inositol from D-glucose 6-phosphate: step 2/2.;Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of IP2, IP, and Ins in the cytosol PE1 18 +NX_O14733 Dual specificity mitogen-activated protein kinase kinase 7 419 47485 9.26 0 Golgi apparatus;Cytoplasm;Cell membrane;Cytosol;Nucleus NA Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. With MAP2K4/MKK4, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3. MAP2K4/MKK4 and MAP2K7/MKK7 both activate the JNKs by phosphorylation, but they differ in their preference for the phosphorylation site in the Thr-Pro-Tyr motif. MAP2K4/MKK4 shows preference for phosphorylation of the Tyr residue and MAP2K7/MKK7 for the Thr residue. The monophosphorylation of JNKs on the Thr residue is sufficient to increase JNK activity indicating that MAP2K7/MKK7 is important to trigger JNK activity, while the additional phosphorylation of the Tyr residue by MAP2K4/MKK4 ensures optimal JNK activation. Has a specific role in JNK signal transduction pathway activated by proinflammatory cytokines. The MKK/JNK signaling pathway is also involved in mitochondrial death signaling pathway, including the release cytochrome c, leading to apoptosis. Part of a non-canonical MAPK signaling pathway, composed of the upstream MAP3K12 kinase and downstream MAP kinases MAPK1/ERK2 and MAPK3/ERK1, that enhances the AP-1-mediated transcription of APP in response to APOE (PubMed:28111074). Activated by phosphorylation on Ser-271 and Thr-275 by MAP kinase kinase kinases (MAP3Ks).;MAP2K7 is phosphorylated by MAP3K20 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAP2K7 is phosphorylated by MAP3K3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAP2K7 is phosphorylated by MAP3K12 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAP2K7 is phosphorylated by MAP3K5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAP2K7 is phosphorylated by MAP3K11 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. MAPK signaling pathway;ErbB signaling pathway;Protein processing in endoplasmic reticulum;Osteoclast differentiation;Toll-like receptor signaling pathway;T cell receptor signaling pathway;Fc epsilon RI signaling pathway;Neurotrophin signaling pathway;GnRH signaling pathway;Influenza A;Oxidative Stress Induced Senescence;Uptake and function of anthrax toxins;FCERI mediated MAPK activation;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1 PE1 19 +NX_O14734 Acyl-coenzyme A thioesterase 8 319 35914 7.22 0 Cytoplasmic vesicle;Mitochondrion;Peroxisome matrix NA (Microbial infection) May mediate Nef-induced down-regulation of CD4 cell-surface expression (PubMed:9153233).;Acyl-coenzyme A (acyl-CoA) thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH (PubMed:9299485, PubMed:9153233, PubMed:15194431). Acyl-coenzyme A thioesterase 8/ACOT8 display no strong substrate specificity with respect to the carboxylic acid moiety of Acyl-CoAs (By similarity). Hydrolyzes medium length (C2 to C20) straight-chain, saturated and unsaturated acyl-CoAS but is inactive towards substrates with longer aliphatic chains (PubMed:9299485, PubMed:9153233). Moreover, it catalyzes the hydrolysis of CoA esters of bile acids, such as choloyl-CoA and chenodeoxycholoyl-CoA and competes with bile acid CoA:amino acid N-acyltransferase (BAAT) (By similarity). ACOT8 is also able to hydrolyze CoA esters of dicarboxylic acids (By similarity). It is involved in the metabolic regulation of peroxisome proliferation (PubMed:15194431). NA Belongs to the C/M/P thioester hydrolase family. Lipid metabolism; fatty acid metabolism.;Peroxisome;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Beta-oxidation of pristanoyl-CoA;alpha-linolenic acid (ALA) metabolism;Beta-oxidation of very long chain fatty acids;Peroxisomal protein import PE1 20 +NX_O14735 CDP-diacylglycerol--inositol 3-phosphatidyltransferase 213 23539 8.23 5 Endoplasmic reticulum membrane;Cell membrane;Nucleus membrane;Membrane;Nucleoplasm;Golgi apparatus membrane NA Catalyzes the biosynthesis of phosphatidylinositol (PtdIns) as well as PtdIns:inositol exchange reaction. May thus act to reduce an excessive cellular PtdIns content. The exchange activity is due to the reverse reaction of PtdIns synthase and is dependent on CMP, which is tightly bound to the enzyme. NA Belongs to the CDP-alcohol phosphatidyltransferase class-I family. Inositol phosphate metabolism;Glycerophospholipid metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PI PE1 16 +NX_O14737 Programmed cell death protein 5 125 14285 5.77 0 Nucleoplasm;Cytosol NA May function in the process of apoptosis. NA Belongs to the PDCD5 family. NA PE1 19 +NX_O14744 Protein arginine N-methyltransferase 5 637 72684 5.88 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Cytosol;Nucleus NA Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA (PubMed:10531356, PubMed:11152681, PubMed:11747828, PubMed:12411503, PubMed:15737618, PubMed:17709427, PubMed:20159986, PubMed:20810653, PubMed:21258366, PubMed:21917714, PubMed:22269951, PubMed:21081503). Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles (PubMed:12411503, PubMed:11747828, PubMed:17709427). Methylates SUPT5H and may regulate its transcriptional elongation properties (PubMed:12718890). Mono- and dimethylates arginine residues of myelin basic protein (MBP) in vitro. May play a role in cytokine-activated transduction pathways. Negatively regulates cyclin E1 promoter activity and cellular proliferation. Methylates histone H2A and H4 'Arg-3' during germ cell development. Methylates histone H3 'Arg-8', which may repress transcription. Methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tudor domain-containing proteins and subsequent localization to the meiotic nuage (By similarity). Methylates RPS10. Attenuates EGF signaling through the MAPK1/MAPK3 pathway acting at 2 levels. First, monomethylates EGFR; this enhances EGFR 'Tyr-1197' phosphorylation and PTPN6 recruitment, eventually leading to reduced SOS1 phosphorylation (PubMed:21917714, PubMed:21258366). Second, methylates RAF1 and probably BRAF, hence destabilizing these 2 signaling proteins and reducing their catalytic activity (PubMed:21917714). Required for induction of E-selectin and VCAM-1, on the endothelial cells surface at sites of inflammation. Methylates HOXA9 (PubMed:22269951). Methylates and regulates SRGAP2 which is involved in cell migration and differentiation (PubMed:20810653). Acts as a transcriptional corepressor in CRY1-mediated repression of the core circadian component PER1 by regulating the H4R3 dimethylation at the PER1 promoter (By similarity). Methylates GM130/GOLGA2, regulating Golgi ribbon formation (PubMed:20421892). Methylates H4R3 in genes involved in glioblastomagenesis in a CHTOP- and/or TET1-dependent manner (PubMed:25284789). Symmetrically methylates POLR2A, a modification that allows the recruitment to POLR2A of proteins including SMN1/SMN2 and SETX. This is required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination (PubMed:26700805). Along with LYAR, binds the promoter of gamma-globin HBG1/HBG2 and represses its expression (PubMed:25092918). Symmetrically methylates NCL (PubMed:21081503). Methylates TP53; methylation might possibly affect TP53 target gene specificity (PubMed:19011621). PRMT5 is phosphorylated by JAK2 Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family. RNA transport;RMTs methylate histone arginines;snRNP Assembly;Regulation of TP53 Activity through Methylation PE1 14 +NX_O14745 Na(+)/H(+) exchange regulatory cofactor NHE-RF1 358 38868 5.55 0 Cytoplasm;Cell membrane;Endomembrane system;Centriolar satellite;Filopodium;Ruffle;Cytoplasmic vesicle;Apical cell membrane;Microvillus Nephrolithiasis/osteoporosis, hypophosphatemic, 2 Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of phosphate reabsorption in the renal proximal tubules. Involved in sperm capacitation. May participate in the regulation of the chloride and bicarbonate homeostasis in spermatozoa. Phosphorylated on serine residues. NA NA PE1 17 +NX_O14746 Telomerase reverse transcriptase 1132 126997 10.54 0 Cytoplasm;Nucleus speckle;Nucleolus;Nucleoplasm;Telomere;PML body;Cytosol;Nucleus Dyskeratosis congenita, autosomal dominant, 2;Melanoma, cutaneous malignant 9;Aplastic anemia;Pulmonary fibrosis, idiopathic;Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1;Dyskeratosis congenita, autosomal recessive, 4 Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini with the 6-nucleotide telomeric repeat unit, 5'-TTAGGG-3'. The catalytic cycle involves primer binding, primer extension and release of product once the template boundary has been reached or nascent product translocation followed by further extension. More active on substrates containing 2 or 3 telomeric repeats. Telomerase activity is regulated by a number of factors including telomerase complex-associated proteins, chaperones and polypeptide modifiers. Modulates Wnt signaling. Plays important roles in aging and antiapoptosis. Ubiquitinated by the EDVP complex, a E3 ligase complex following phosphorylation at Ser-457 by DYRK2. Ubiquitinated leads to proteasomal degradation.;Phosphorylation at Tyr-707 under oxidative stress leads to translocation of TERT to the cytoplasm and reduces its antiapoptotic activity. Dephosphorylated by SHP2/PTPN11 leading to nuclear retention. Phosphorylation at Ser-227 by the AKT pathway promotes nuclear location. Phosphorylation at the G2/M phase at Ser-457 by DYRK2 promotes ubiquitination by the EDVP complex and degradation.;(Microbial infection) In case of infection by HIV-1, the EDVP complex is hijacked by HIV-1 via interaction between HIV-1 Vpr and DCAF1/VPRBP, leading to ubiquitination and degradation.;TERT is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255) Belongs to the reverse transcriptase family. Telomerase subfamily. HTLV-I infection;Formation of the beta-catenin:TCF transactivating complex;Telomere Extension By Telomerase PE1 5 +NX_O14753 Putative transcription factor Ovo-like 1 267 30259 9.02 0 Nucleoplasm;Nucleus NA Putative transcription factor. Involved in hair formation and spermatogenesis. May function in the differentiation and/or maintenance of the urogenital system (By similarity). NA NA NA PE1 11 +NX_O14756 17-beta-hydroxysteroid dehydrogenase type 6 317 35966 8.94 0 Early endosome membrane;Nucleoplasm;Microsome membrane;Cytoplasmic vesicle NA NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to 5-alpha-androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21 3-alpha-hydroxysteroids. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Steroid hormone biosynthesis;Metabolic pathways;The canonical retinoid cycle in rods (twilight vision) PE1 12 +NX_O14757 Serine/threonine-protein kinase Chk1 476 54434 8.5 0 Cytoplasm;Nucleoplasm;Centrosome;Cytoplasmic vesicle;Nucleus NA Endogenous repressor of isoform 1, interacts with, and antagonizes CHK1 to promote the S to G2/M phase transition.;Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest and activation of DNA repair in response to the presence of DNA damage or unreplicated DNA. May also negatively regulate cell cycle progression during unperturbed cell cycles. This regulation is achieved by a number of mechanisms that together help to preserve the integrity of the genome. Recognizes the substrate consensus sequence [R-X-X-S/T]. Binds to and phosphorylates CDC25A, CDC25B and CDC25C. Phosphorylation of CDC25A at 'Ser-178' and 'Thr-507' and phosphorylation of CDC25C at 'Ser-216' creates binding sites for 14-3-3 proteins which inhibit CDC25A and CDC25C. Phosphorylation of CDC25A at 'Ser-76', 'Ser-124', 'Ser-178', 'Ser-279' and 'Ser-293' promotes proteolysis of CDC25A. Phosphorylation of CDC25A at 'Ser-76' primes the protein for subsequent phosphorylation at 'Ser-79', 'Ser-82' and 'Ser-88' by NEK11, which is required for polyubiquitination and degradation of CDCD25A. Inhibition of CDC25 leads to increased inhibitory tyrosine phosphorylation of CDK-cyclin complexes and blocks cell cycle progression. Also phosphorylates NEK6. Binds to and phosphorylates RAD51 at 'Thr-309', which promotes the release of RAD51 from BRCA2 and enhances the association of RAD51 with chromatin, thereby promoting DNA repair by homologous recombination. Phosphorylates multiple sites within the C-terminus of TP53, which promotes activation of TP53 by acetylation and promotes cell cycle arrest and suppression of cellular proliferation. Also promotes repair of DNA cross-links through phosphorylation of FANCE. Binds to and phosphorylates TLK1 at 'Ser-743', which prevents the TLK1-dependent phosphorylation of the chromatin assembly factor ASF1A. This may enhance chromatin assembly both in the presence or absence of DNA damage. May also play a role in replication fork maintenance through regulation of PCNA. May regulate the transcription of genes that regulate cell-cycle progression through the phosphorylation of histones. Phosphorylates histone H3.1 (to form H3T11ph), which leads to epigenetic inhibition of a subset of genes. May also phosphorylate RB1 to promote its interaction with the E2F family of transcription factors and subsequent cell cycle arrest. Ubiquitinated. Mono or diubiquitination promotes nuclear exclusion (By similarity). The activated form (phosphorylated on Ser-345) is polyubiquitinated at Lys-436 by some SCF-type E3 ubiquitin ligase complex containing FBXO6 promoting its degradation. Ubiquitination and degradation are required to terminate the checkpoint and ensure that activated CHEK1 does not accumulate as cells progress through S phase, when replication forks encounter transient impediments during normal DNA replication.;Phosphorylated by ATR in a RAD17-dependent manner in response to ultraviolet irradiation and inhibition of DNA replication. Phosphorylated by ATM in response to ionizing irradiation. ATM and ATR can both phosphorylate Ser-317 and Ser-345 and this results in enhanced kinase activity. Phosphorylation at Ser-345 induces a change in the conformation of the protein, activates the kinase activity and is a prerequisite for interaction with FBXO6 and subsequent ubiquitination at Lys-436. Phosphorylation at Ser-345 also increases binding to 14-3-3 proteins and promotes nuclear retention. Conversely, dephosphorylation at Ser-345 by PPM1D may contribute to exit from checkpoint mediated cell cycle arrest. Phosphorylation at Ser-280 by AKT1/PKB, may promote mono and/or diubiquitination. Also phosphorylated at undefined residues during mitotic arrest, resulting in decreased activity. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. NIM1 subfamily. Cell cycle;p53 signaling pathway;HTLV-I infection;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Activation of ATR in response to replication stress;G2/M DNA damage checkpoint;Signaling by SCF-KIT;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;TP53 Regulates Transcription of DNA Repair Genes;Regulation of TP53 Activity through Phosphorylation;Transcriptional Regulation by E2F6 PE1 11 +NX_O14763 Tumor necrosis factor receptor superfamily member 10B 440 47878 5.39 1 Membrane Squamous cell carcinoma of the head and neck Receptor for the cytotoxic ligand TNFSF10/TRAIL (PubMed:10549288). The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Promotes the activation of NF-kappa-B. Essential for ER stress-induced apoptosis. NA NA Cytokine-cytokine receptor interaction;p53 signaling pathway;Apoptosis;Natural killer cell mediated cytotoxicity;Measles;Influenza A;Cell surface interactions at the vascular wall;Caspase activation via Death Receptors in the presence of ligand;Regulation by c-FLIP;RIPK1-mediated regulated necrosis;CASP8 activity is inhibited;Dimerization of procaspase-8;TRAIL signaling;TP53 Regulates Transcription of Death Receptors and Ligands PE1 8 +NX_O14764 Gamma-aminobutyric acid receptor subunit delta 452 50708 8.7 4 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Postsynaptic cell membrane Generalized epilepsy with febrile seizures plus 5;Epilepsy, idiopathic generalized 10;Juvenile myoclonic epilepsy 7 GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRD sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse PE1 1 +NX_O14770 Homeobox protein Meis2 477 51790 5.92 0 Nucleoplasm;Cytosol;Perinuclear region;Nucleus Cleft palate, cardiac defects, and mental retardation Involved in transcriptional regulation. Binds to HOX or PBX proteins to form dimers, or to a DNA-bound dimer of PBX and HOX proteins and thought to have a role in stabilization of the homeoprotein-DNA complex.;Is required for the activity of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element; MEIS2 is not involved in complex DNA-binding. Probably in complex with PBX1, is involved in transcriptional regulation by KLF4.;Can bind to a EPHA8 promoter sequence containing the DNA motif 5'-CGGTCA-3'; in cooperation with a PBX protein (such as PBX2) is proposed to be involved in the transcriptional activation of EPHA8 in the developing midbrain. May be involved in regulation of myeloid differentiation. Can bind to the DNA sequence 5'-TGACAG-3'in the activator ACT sequence of the D(1A) dopamine receptor (DRD1) promoter and activate DRD1 transcription; isoform 5 cannot activate DRD1 transcription. NA Belongs to the TALE/MEIS homeobox family. NA PE1 15 +NX_O14771 Zinc finger protein 213 459 51263 6.48 0 Nucleus membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_O14772 Fucose-1-phosphate guanylyltransferase 607 68010 6.45 0 Cytoplasm NA Catalyzes the formation of GDP-L-fucose from GTP and L-fucose-1-phosphate. Functions as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids. NA NA Fructose and mannose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;GDP-fucose biosynthesis PE1 1 +NX_O14773 Tripeptidyl-peptidase 1 563 61248 6.01 0 Cytoplasm;Melanosome;Lysosome Spinocerebellar ataxia, autosomal recessive, 7;Ceroid lipofuscinosis, neuronal, 2 Lysosomal serine protease with tripeptidyl-peptidase I activity (PubMed:11054422, PubMed:19038966, PubMed:19038967). May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases (PubMed:11054422, PubMed:19038966, PubMed:19038967). Requires substrates with an unsubstituted N-terminus (PubMed:19038966). Activated by autocatalytic proteolytical processing upon acidification (PubMed:11054422, PubMed:19038966, PubMed:19038967). N-glycosylation is required for processing and activity (PubMed:19038966, PubMed:19038967). NA Lysosome;XBP1(S) activates chaperone genes PE1 11 +NX_O14775 Guanine nucleotide-binding protein subunit beta-5 395 43566 6.02 0 Cytoplasm;Nucleus speckle;Membrane;Centrosome;Nucleus Intellectual developmental disorder with cardiac arrhythmia;Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, hence involved in the termination of the signaling initiated by the G protein coupled receptors (GPCRs) by accelerating the GTP hydrolysis on the G-alpha subunits, thereby promoting their inactivation (Probable). Increases RGS9 GTPase-activating protein (GAP) activity, hence contributes to the deactivation of G protein signaling initiated by D(2) dopamine receptors (PubMed:27677260). May play an important role in neuronal signaling, including in the parasympathetic, but not sympathetic, control of heart rate (By similarity). NA Belongs to the WD repeat G protein beta family. Chemokine signaling pathway;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;G alpha (i) signalling events;G alpha (q) signalling events;G alpha (s) signalling events;G beta:gamma signalling through PI3Kgamma;G alpha (12/13) signalling events;Inactivation, recovery and regulation of the phototransduction cascade;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;G-protein activation;ADP signalling through P2Y purinoceptor 12;Prostacyclin signalling through prostacyclin receptor;Adrenaline,noradrenaline inhibits insulin secretion;Ca2+ pathway;G beta:gamma signalling through PLC beta;ADP signalling through P2Y purinoceptor 1;G alpha (z) signalling events;Glucagon-type ligand receptors;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Presynaptic function of Kainate receptors;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling;G beta:gamma signalling through BTK;G beta:gamma signalling through CDC42 PE1 15 +NX_O14776 Transcription elongation regulator 1 1098 123901 8.71 0 Nucleoplasm;Nucleus NA Transcription factor that binds RNA polymerase II and inhibits the elongation of transcripts from target promoters. Regulates transcription elongation in a TATA box-dependent manner. Necessary for TAT-dependent activation of the human immunodeficiency virus type 1 (HIV-1) promoter. NA NA NA PE1 5 +NX_O14777 Kinetochore protein NDC80 homolog 642 73913 5.48 0 Nucleoplasm;Nucleus;Centrosome;Kinetochore NA Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:9315664, PubMed:12351790, PubMed:14654001, PubMed:14699129, PubMed:15062103, PubMed:15235793, PubMed:15239953, PubMed:15548592, PubMed:16732327). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:15548592). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020). Plays a role in chromosome congression and is essential for the end-on attachment of the kinetochores to spindle microtubules (PubMed:25743205, PubMed:23891108). Phosphorylation begins in S phase of the cell cycle and peaks in mitosis. Phosphorylated by NEK2. May also be phosphorylated by AURKA and AURKB. Belongs to the NDC80/HEC1 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 18 +NX_O14782 Kinesin-like protein KIF3C 793 89426 8.28 0 Nucleus;Nucleus membrane;Cytoskeleton NA Microtubule-based anterograde translocator for membranous organelles. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin II subfamily. MHC class II antigen presentation;Intraflagellar transport;Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 2 +NX_O14786 Neuropilin-1 923 103134 5.58 1 Endoplasmic reticulum;Secreted;Cell membrane NA The soluble isoform 2 binds VEGF-165 and appears to inhibit its binding to cells. It may also induce apoptosis by sequestering VEGF-165. May bind as well various members of the semaphorin family. Its expression has an averse effect on blood vessel number and integrity.;The membrane-bound isoform 1 is a receptor involved in the development of the cardiovascular system, in angiogenesis, in the formation of certain neuronal circuits and in organogenesis outside the nervous system. It mediates the chemorepulsant activity of semaphorins. It binds to semaphorin 3A, The PLGF-2 isoform of PGF, The VEGF165 isoform of VEGFA and VEGFB. Coexpression with KDR results in increased VEGF165 binding to KDR as well as increased chemotaxis. Regulate VEGF-induced angiogenesis. Binding to VEGFA initiates a signaling pathway needed for motor neuron axon guidance and cell body migration, including for the caudal migration of facial motor neurons from rhombomere 4 to rhombomere 6 during embryonic development (By similarity). NA Belongs to the neuropilin family. Axon guidance;HTLV-I infection;Signal transduction by L1;SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion;Sema3A PAK dependent Axon repulsion;CRMPs in Sema3A signaling;CHL1 interactions;Signaling by ROBO receptors;Neurophilin interactions with VEGF and VEGFR PE1 10 +NX_O14787 Transportin-2 897 101388 4.87 0 Nucleoplasm;Nucleolus;Cytoplasm;Nucleus NA Probably functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). NA Belongs to the importin beta family. Importin beta-2 subfamily. NA PE1 19 +NX_O14788 Tumor necrosis factor ligand superfamily member 11 317 35478 7.25 1 Cytoplasm;Secreted;Cell membrane Osteopetrosis, autosomal recessive 2 Cytokine that binds to TNFRSF11B/OPG and to TNFRSF11A/RANK. Osteoclast differentiation and activation factor. Augments the ability of dendritic cells to stimulate naive T-cell proliferation. May be an important regulator of interactions between T-cells and dendritic cells and may play a role in the regulation of the T-cell-dependent immune response. May also play an important role in enhanced bone-resorption in humoral hypercalcemia of malignancy (PubMed:22664871). Induces osteoclastogenesis by activating multiple signaling pathways in osteoclast precursor cells, chief among which is induction of long lasting oscillations in the intracellular concentration of Ca (2+) resulting in the activation of NFATC1, which translocates to the nucleus and induces osteoclast-specific gene transcription to allow differentiation of osteoclasts. During osteoclast differentiation, in a TMEM64 and ATP2A2-dependent manner induces activation of CREB1 and mitochondrial ROS generation necessary for proper osteoclast generation (By similarity). The soluble form of isoform 1 derives from the membrane form by proteolytic processing (By similarity). The cleavage may be catalyzed by ADAM17. Belongs to the tumor necrosis factor family. Cytokine-cytokine receptor interaction;Osteoclast differentiation;Rheumatoid arthritis;TNFR2 non-canonical NF-kB pathway;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway;TNFs bind their physiological receptors PE1 13 +NX_O14791 Apolipoprotein L1 398 43974 5.6 0 Secreted Focal segmental glomerulosclerosis 4 May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver. Phosphorylated by FAM20C in the extracellular medium. Belongs to the apolipoprotein L family. African trypanosomiasis;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Scavenging of heme from plasma;Post-translational protein phosphorylation PE1 22 +NX_O14792 Heparan sulfate glucosamine 3-O-sulfotransferase 1 307 35773 8.91 0 Cytoplasmic vesicle;Golgi apparatus lumen NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan. Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site. NA Belongs to the sulfotransferase 1 family. Glycosaminoglycan biosynthesis - heparan sulfate;HS-GAG biosynthesis PE1 4 +NX_O14793 Growth/differentiation factor 8 375 42750 6.35 0 Secreted Muscle hypertrophy Acts specifically as a negative regulator of skeletal muscle growth. Synthesized as large precursor molecule that undergoes proteolytic cleavage to generate an N-terminal propeptide and a disulfide linked C-terminal dimer, which is the biologically active molecule. The circulating form consists of a latent complex of the C-terminal dimer and other proteins, including its propeptide, which maintain the C-terminal dimer in a latent, inactive state. Ligand activation requires additional cleavage of the prodomain by a tolloid-like metalloproteinase. Belongs to the TGF-beta family. FOXO-mediated transcription of cell cycle genes PE1 2 +NX_O14795 Protein unc-13 homolog B 1591 180679 5.67 0 Golgi apparatus;Cytoplasm;Cell membrane;Membrane;Nucleoplasm;Synapse;Cytoplasmic vesicle;Cytoskeleton NA Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Is involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-depending refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in a subset of excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity). NA Belongs to the unc-13 family. Synaptic vesicle cycle;Acetylcholine Neurotransmitter Release Cycle;Glutamate Neurotransmitter Release Cycle;Norepinephrine Neurotransmitter Release Cycle;Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle PE1 9 +NX_O14796 SH2 domain-containing protein 1B 132 15297 8.97 0 NA NA Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as CD84, SLAMF1, LY9 and CD244 (PubMed:11689425). In SLAM signaling seems to cooperate with SH2D1A/SAP. Plays a role in regulation of effector functions of natural killer (NK) cells by controlling signal transduction through CD244/2B4 without effecting its tyrosine phosphorylation; downstream signaling involves PLCG1 and ERK activation (PubMed:24687958). Activation of SLAMF7-mediated NK cell function does not effect receptor tyrosine phosphorylation but distal signaling (By similarity). In the context of NK cell-mediated cytotoxicity does not enhance conjugate formation with target cells but stimulates polarization of the microtubule-organizing center and cytotoxic granules toward the NK cell synapse (PubMed:24687958). Negatively regulates CD40-induced cytokine production in dendritic cells downstream of SLAM family receptors probably by inducing activation of the PI3K pathway to inhibit p38 MAPK and JNK activation (By similarity). NA NA Natural killer cell mediated cytotoxicity;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 1 +NX_O14798 Tumor necrosis factor receptor superfamily member 10C 259 27407 4.79 0 Cell membrane NA Receptor for the cytotoxic ligand TRAIL. Lacks a cytoplasmic death domain and hence is not capable of inducing apoptosis. May protect cells against TRAIL mediated apoptosis by competing with TRAIL-R1 and R2 for binding to the ligand. N-glycosylated and O-glycosylated. NA Cytokine-cytokine receptor interaction;Apoptosis;Natural killer cell mediated cytotoxicity;Measles;Influenza A;TP53 Regulates Transcription of Death Receptors and Ligands PE1 8 +NX_O14802 DNA-directed RNA polymerase III subunit RPC1 1390 155641 8.76 0 Nucleoplasm;Nucleus Wiedemann-Rautenstrauch syndrome;Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Forms the polymerase active center together with the second largest subunit. A single-stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol III. A bridging helix emanates from RPC1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol III by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition (By similarity). Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway. NA Belongs to the RNA polymerase beta' chain family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Cytosolic DNA-sensing pathway;Cytosolic sensors of pathogen-associated DNA;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter PE1 10 +NX_O14804 Trace amine-associated receptor 5 337 38242 8.49 7 Cell membrane NA Olfactory receptor specific for trimethylamine, a trace amine. Also activated at lower level by dimethylethylamine. Trimethylamine is a bacterial metabolite found in some animal odors, and to humans it is a repulsive odor associated with bad breath and spoiled food. This receptor is probably mediated by the G(s)-class of G-proteins which activate adenylate cyclase. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Amine ligand-binding receptors PE2 6 +NX_O14807 Ras-related protein M-Ras 208 23846 8.82 0 Cytosol;Cell membrane NA May serve as an important signal transducer for a novel upstream stimuli in controlling cell proliferation. Weakly activates the MAP kinase pathway. NA Belongs to the small GTPase superfamily. Ras family. MAPK signaling pathway;Tight junction;Regulation of actin cytoskeleton;HTLV-I infection PE1 3 +NX_O14810 Complexin-1 134 15030 4.93 0 Presynapse;Perikaryon;Cytosol Epileptic encephalopathy, early infantile, 63 Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles (PubMed:21785414). Organizes the SNAREs into a cross-linked zigzag topology that, when interposed between the vesicle and plasma membranes, is incompatible with fusion, thereby preventing SNAREs from releasing neurotransmitters until an action potential arrives at the synapse (PubMed:21785414). Also involved in glucose-induced secretion of insulin by pancreatic beta-cells. Essential for motor behavior. NA Belongs to the complexin/synaphin family. Synaptic vesicle cycle;Acetylcholine Neurotransmitter Release Cycle;GABA synthesis, release, reuptake and degradation;Glutamate Neurotransmitter Release Cycle;Norepinephrine Neurotransmitter Release Cycle;Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle PE1 4 +NX_O14813 Paired mesoderm homeobox protein 2A 284 29653 8.98 0 Nucleus membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus Fibrosis of extraocular muscles, congenital, 2 May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Acts as a transcription activator/factor. Could maintain the noradrenergic phenotype. NA Belongs to the paired homeobox family. NA PE1 11 +NX_O14815 Calpain-9 690 79097 5.37 0 NA NA Calcium-regulated non-lysosomal thiol-protease. NA Belongs to the peptidase C2 family. Degradation of the extracellular matrix PE1 1 +NX_O14817 Tetraspanin-4 238 26118 6.07 4 Membrane NA NA NA Belongs to the tetraspanin (TM4SF) family. NA PE1 11 +NX_O14818 Proteasome subunit alpha type-7 248 27887 8.6 0 Cytoplasm;Nucleus NA Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Inhibits the transactivation function of HIF-1A under both normoxic and hypoxia-mimicking conditions. The interaction with EMAP2 increases the proteasome-mediated HIF-1A degradation under the hypoxic conditions. Plays a role in hepatitis C virus internal ribosome entry site-mediated translation. Mediates nuclear translocation of the androgen receptor (AR) and thereby enhances androgen-mediated transactivation. Promotes MAVS degradation and thereby negatively regulates MAVS-mediated innate immune response. Phosphorylation by ABL1 or ABL2 leads to an inhibition of proteasomal activity and cell cycle transition blocks. Belongs to the peptidase T1A family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 20 +NX_O14827 Ras-specific guanine nucleotide-releasing factor 2 1237 140764 7.37 0 Endoplasmic reticulum;Cytoplasm;Endoplasmic reticulum membrane;Cell membrane NA Functions as a calcium-regulated nucleotide exchange factor activating both Ras and RAC1 through the exchange of bound GDP for GTP. Preferentially activates HRAS in vivo compared to RRAS based on their different types of prenylation. Functions in synaptic plasticity by contributing to the induction of long term potentiation. Ubiquitinated upon interaction with Ras. Ubiquitination leads to degradation through the 26S proteasome (By similarity).;Phosphorylated by CDK5; down-regulates RASGRF2-mediated RAC1 activation. NA MAPK signaling pathway;RAF/MAP kinase cascade;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events;Ras activation upon Ca2+ influx through NMDA receptor PE1 5 +NX_O14828 Secretory carrier-associated membrane protein 3 347 38287 7.55 4 Membrane;Cytoplasmic vesicle NA Functions in post-Golgi recycling pathways. Acts as a recycling carrier to the cell surface. Monoubiquitinated.;SCAMP3 is phosphorylated by EGFR (Phosphotyrosine:PTM-0255) Belongs to the SCAMP family. NA PE1 1 +NX_O14829 Serine/threonine-protein phosphatase with EF-hands 1 653 75792 6.37 0 Cell membrane;Cytoskeleton NA May have a role in the recovery or adaptation response of photoreceptors. May have a role in development. NA Belongs to the PPP phosphatase family. Inactivation, recovery and regulation of the phototransduction cascade PE1 X +NX_O14830 Serine/threonine-protein phosphatase with EF-hands 2 753 86518 6.7 0 Photoreceptor inner segment;Cytoplasm;Photoreceptor outer segment NA May play a role in phototransduction. May dephosphorylate photoactivated rhodopsin. May function as a calcium sensing regulator of ionic currents, energy production or synaptic transmission. NA Belongs to the PPP phosphatase family. NA PE1 4 +NX_O14832 Phytanoyl-CoA dioxygenase, peroxisomal 338 38538 8.71 0 Peroxisome Refsum disease Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. NA Belongs to the PhyH family. Lipid metabolism; fatty acid metabolism.;Peroxisome;Alpha-oxidation of phytanate;Peroxisomal protein import;TYSND1 cleaves peroxisomal proteins PE1 10 +NX_O14836 Tumor necrosis factor receptor superfamily member 13B 293 31816 8.35 1 Membrane Immunoglobulin A deficiency 2;Immunodeficiency, common variable, 2 Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high affinity. Mediates calcineurin-dependent activation of NF-AT, as well as activation of NF-kappa-B and AP-1. Involved in the stimulation of B- and T-cell function and the regulation of humoral immunity. NA NA Cytokine-cytokine receptor interaction;Intestinal immune network for IgA production;Primary immunodeficiency;TNFs bind their physiological receptors PE1 17 +NX_O14841 5-oxoprolinase 1288 137457 6.12 0 Nucleolus 5-oxoprolinase deficiency Catalyzes the cleavage of 5-oxo-L-proline to form L-glutamate coupled to the hydrolysis of ATP to ADP and inorganic phosphate. NA Belongs to the oxoprolinase family. Glutathione metabolism;Glutathione synthesis and recycling;Defective OPLAH causes 5-oxoprolinase deficiency (OPLAHD) PE1 8 +NX_O14842 Free fatty acid receptor 1 300 31457 9.63 7 Cell membrane NA G-protein coupled receptor for medium and long chain saturated and unsaturated fatty acids that plays an important role in glucose homeostasis. Fatty acid binding increases glucose-stimulated insulin secretion, and may also enhance the secretion of glucagon-like peptide 1 (GLP-1). May also play a role in bone homeostasis; receptor signaling activates pathways that inhibit osteoclast differentiation (By similarity). Ligand binding leads to a conformation change that triggers signaling via G-proteins that activate phospholipase C, leading to an increase of the intracellular calcium concentration. Seems to act through a G(q) and G(i)-mediated pathway. NA Belongs to the G-protein coupled receptor 1 family. G alpha (q) signalling events;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP);Free fatty acid receptors;Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion PE1 19 +NX_O14843 Free fatty acid receptor 3 346 38649 8 7 Cell membrane NA G protein-coupled receptor that is activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that plays a role in the regulation of whole-body energy homeostasis and in intestinal immunity. In omnivorous mammals, the short chain fatty acids acetate, propionate and butyrate are produced primarily by the gut microbiome that metabolizes dietary fibers. SCFAs serve as a source of energy but also act as signaling molecules. That G protein-coupled receptor is probably coupled to the pertussis toxin-sensitive, G(i/o)-alpha family of G proteins. Its activation results in the formation of inositol 1,4,5-trisphosphate, the mobilization of intracellular calcium, the phosphorylation of the MAPK3/ERK1 and MAPK1/ERK2 kinases and the inhibition of intracellular cAMP accumulation (PubMed:12711604). Activated by SCFAs and by beta-hydroxybutyrate, a ketone body produced by the liver upon starvation, it inhibits N-type calcium channels and modulates the activity of sympathetic neurons through a signaling cascade involving the beta and gamma subunits of its coupled G protein, phospholipase C and MAP kinases. Thereby, it may regulate energy expenditure through the control of the sympathetic nervous system that controls for instance heart rate. Upon activation by SCFAs accumulating in the intestine, it may also signal to the brain via neural circuits which in turn would regulate intestinal gluconeogenesis. May also control the production of hormones involved in whole-body energy homeostasis. May for instance, regulate blood pressure through renin secretion. May also regulate secretion of the PYY peptide by enteroendocrine cells and control gut motility, intestinal transit rate, and the harvesting of energy from SCFAs produced by gut microbiota. May also indirectly regulate the production of LEP/Leptin, a hormone acting on the CNS to inhibit food intake, in response to the presence of short-chain fatty acids in the intestine. Finally, may also play a role in glucose homeostasis. Besides its role in energy homeostasis, may play a role in intestinal immunity. May mediate the activation of the inflammatory and immune response by SCFAs in the gut, regulating the rapid production of chemokines and cytokines by intestinal epithelial cells. Among SCFAs, the fatty acids containing less than 6 carbons, the most potent activators are probably propionate, butyrate and pentanoate while acetate is a poor activator (PubMed:12496283, PubMed:12711604). NA Belongs to the G-protein coupled receptor 1 family. G alpha (q) signalling events;Free fatty acid receptors PE1 19 +NX_O14862 Interferon-inducible protein AIM2 343 38954 9.79 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cytosol;Nucleus NA Involved in innate immune response by recognizing cytosolic double-stranded DNA and inducing caspase-1-activating inflammasome formation in macrophages. Upon binding to DNA is thought to undergo oligomerization and to associate with PYCARD initiating the recruitment of caspase-1 precusrsor and processing of interleukin-1 beta and interleukin-18. Detects cytosolic dsDNA of viral and bacterial origin in a non-sequence-specific manner. Can also trigger PYCARD-dependent, caspase-1-independent cell death that involves caspase-8 (By similarity). Tumor suppressor which may act by repressing NF-kappa-B transcriptional activity. NA Belongs to the HIN-200 family. Cytosolic DNA-sensing pathway;The AIM2 inflammasome PE1 1 +NX_O14863 Zinc transporter 4 429 47483 6.11 6 Lysosome membrane;Late endosome membrane;Endosome membrane NA Probably involved in zinc transport out of the cytoplasm, maybe by sequestration into an intracellular compartment. NA Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. NA PE1 15 +NX_O14867 Transcription regulator protein BACH1 736 81958 4.95 0 Nucleoplasm;Cytosol;Nucleus NA Transcriptional regulator that acts as repressor or activator, depending on the context. Binds to NF-E2 DNA binding sites. Play important roles in coordinating transcription activation and repression by MAFK (By similarity). Together with MAF, represses the transcription of genes under the control of the NFE2L2 oxidative stress pathway (PubMed:24035498). Ubiquitinated by the SCF(FBXL17) complex, leading to its degradation by the proteasome. Belongs to the bZIP family. CNC subfamily. NA PE1 21 +NX_O14874 [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial 412 46360 8.97 0 Mitochondrion matrix;Mitochondrion Branched-chain ketoacid dehydrogenase kinase deficiency Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Key enzyme that regulate the activity state of the BCKD complex. Autophosphorylated. Belongs to the PDK/BCKDK protein kinase family. Branched-chain amino acid catabolism PE1 16 +NX_O14879 Interferon-induced protein with tetratricopeptide repeats 3 490 55985 5.12 0 Cytoplasm;Cytosol;Mitochondrion NA IFN-induced antiviral protein which acts as an inhibitor of cellular as well as viral processes, cell migration, proliferation, signaling, and viral replication. Enhances MAVS-mediated host antiviral responses by serving as an adapter bridging TBK1 to MAVS which leads to the activation of TBK1 and phosphorylation of IRF3 and phosphorylated IRF3 translocates into nucleus to promote antiviral gene transcription. Exihibits an antiproliferative activity via the up-regulation of cell cycle negative regulators CDKN1A/p21 and CDKN1B/p27. Normally, CDKN1B/p27 turnover is regulated by COPS5, which binds CDKN1B/p27 in the nucleus and exports it to the cytoplasm for ubiquitin-dependent degradation. IFIT3 sequesters COPS5 in the cytoplasm, thereby increasing nuclear CDKN1B/p27 protein levels. Upregulates CDKN1A/p21 by downregulating MYC, a repressor of CDKN1A/p21. Can negatively regulate the apoptotic effects of IFIT2. NA Belongs to the IFIT family. Interferon alpha/beta signaling PE1 10 +NX_O14880 Microsomal glutathione S-transferase 3 152 16516 9.46 3 Membrane;Microsome membrane;Endoplasmic reticulum membrane NA Catalyzes oxydation of hydroxy-fatty acids (PubMed:9278457). Also catalyzes the conjugation of a reduced glutathione to leukotriene A4 in vitro (PubMed:9278457). May participate to the lipid metabolism (PubMed:9278457). NA Belongs to the MAPEG family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Glutathione conjugation;Aflatoxin activation and detoxification PE1 1 +NX_O14893 Gem-associated protein 2 280 31585 5.43 0 Cytoplasm;Gem;Nucleolus;Nucleoplasm;Nucleus NA The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. NA Belongs to the gemin-2 family. RNA transport;snRNP Assembly PE1 14 +NX_O14894 Transmembrane 4 L6 family member 5 197 20823 8.56 4 Nucleoplasm;Lysosome membrane;Cell junction;Cell membrane NA Acts as a lysosomal membrane arginine sensor (PubMed:30956113). Forms a complex with MTOR and SLC38A9 on lysosomal membranes in an arginine-regulated manner, leading to arginine efflux which enables the activation of mTORC1 which subsequently leads to RPS6KB1 and EIF4EBP1 phosphorylations (PubMed:30956113). Facilitates cell cycle G1/S phase progression and the translocation of the CDK4-CCND1 complex into the nucleus (PubMed:20399237). CDKN1B and RHOA/ROCK signaling activity are involved in TM4SF5-mediated acceleration of G1/S phase progression (PubMed:20399237). NA Belongs to the L6 tetraspanin family. NA PE1 17 +NX_O14896 Interferon regulatory factor 6 467 53130 5.18 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Popliteal pterygium syndrome;Van der Woude syndrome 1;Non-syndromic orofacial cleft 6 Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity). Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and proteasome-mediated degradation. Belongs to the IRF family. Interferon gamma signaling;Interferon alpha/beta signaling PE1 1 +NX_O14901 Krueppel-like factor 11 512 55139 8.45 0 Nucleoplasm;Cytosol;Focal adhesion;Nucleus Maturity-onset diabetes of the young 7 Transcription factor (PubMed:9748269, PubMed:10207080). Activates the epsilon- and gamma-globin gene promoters and, to a much lower degree, the beta-globin gene and represses promoters containing SP1-like binding inhibiting cell growth (PubMed:9748269, PubMed:10207080, PubMed:16131492). Represses transcription of SMAD7 which enhances TGF-beta signaling (By similarity). Induces apoptosis (By similarity). NA Belongs to the Sp1 C2H2-type zinc-finger protein family. NA PE1 2 +NX_O14904 Protein Wnt-9a 365 40320 9.08 0 Extracellular matrix;Secreted NA Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt/beta-catenin signaling pathway. Required for normal timing of IHH expression during embryonic bone development, normal chondrocyte maturation and for normal bone mineralization during embryonic bone development. Plays a redundant role in maintaining joint integrity. Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Belongs to the Wnt family. WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors);TCF dependent signaling in response to WNT;Negative regulation of TCF-dependent signaling by WNT ligand antagonists PE1 1 +NX_O14905 Protein Wnt-9b 357 39001 9.2 0 Extracellular matrix;Secreted NA Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway. Required for normal embryonic kidney development, and for normal development of the urogenital tract, including uterus and part of the oviduct and the upper vagina in females, and epididymis and vas deferens in males. Activates a signaling cascade in the metanephric mesenchyme that induces tubulogenesis. Acts upstream of WNT4 in the signaling pathways that mediate development of kidney tubules and the Muellerian ducts. Plays a role in cranofacial development and is required for normal fusion of the palate during embryonic development (By similarity). Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Belongs to the Wnt family. WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors) PE1 17 +NX_O14907 Tax1-binding protein 3 124 13735 8.05 0 Cytoplasm;Cell membrane;Nucleolus;Cytoplasmic vesicle;Nucleus;Cytoskeleton NA May regulate a number of protein-protein interactions by competing for PDZ domain binding sites. Binds CTNNB1 and may thereby act as an inhibitor of the Wnt signaling pathway. Competes with LIN7A for KCNJ4 binding, and thereby promotes KCNJ4 internalization. May play a role in the Rho signaling pathway. May play a role in activation of CDC42 by the viral protein HPV16 E6. NA NA RHO GTPases Activate Rhotekin and Rhophilins PE1 17 +NX_O14908 PDZ domain-containing protein GIPC1 333 36049 5.9 0 Cytoplasm;Cell membrane;Cell junction;Membrane;Nucleoplasm NA May be involved in G protein-linked signaling. NA Belongs to the GIPC family. NA PE1 19 +NX_O14910 Protein lin-7 homolog A 233 25997 8.83 0 Cell membrane;Basolateral cell membrane;Cell junction;Tight junction;Postsynaptic density membrane NA Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells. NA Belongs to the lin-7 family. Dopamine Neurotransmitter Release Cycle;Neurexins and neuroligins;Assembly and cell surface presentation of NMDA receptors PE1 12 +NX_O14917 Protocadherin-17 1159 126229 5.03 1 Cytoplasmic vesicle;Cytosol;Cell membrane NA Potential calcium-dependent cell-adhesion protein. NA NA NA PE1 13 +NX_O14920 Inhibitor of nuclear factor kappa-B kinase subunit beta 756 86564 5.58 0 Cytoplasm;Cytosol;Membrane raft;Nucleus Immunodeficiency 15A;Immunodeficiency 15B Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses (PubMed:30337470). Acts as part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation. Phosphorylates inhibitors of NF-kappa-B on 2 critical serine residues. These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome. In turn, free NF-kappa-B is translocated into the nucleus and activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis. In addition to the NF-kappa-B inhibitors, phosphorylates several other components of the signaling pathway including NEMO/IKBKG, NF-kappa-B subunits RELA and NFKB1, as well as IKK-related kinases TBK1 and IKBKE. IKK-related kinase phosphorylations may prevent the overproduction of inflammatory mediators since they exert a negative regulation on canonical IKKs. Phosphorylates FOXO3, mediating the TNF-dependent inactivation of this pro-apoptotic transcription factor. Also phosphorylates other substrates including NCOA3, BCL10 and IRS1. Within the nucleus, acts as an adapter protein for NFKBIA degradation in UV-induced NF-kappa-B activation. (Microbial infection) Monoubiquitination by TRIM21 is disrupted by Yersinia yopJ.;Hydroxylated by PHD1/EGLN2, loss of hydroxylation under hypoxic conditions results in activation of NF-kappa-B.;(Microbial infection) Acetylation of Thr-180 by Yersinia yopJ prevents phosphorylation and activation, thus blocking the I-kappa-B pathway.;Ubiquitinated. Monoubiquitination involves TRIM21 that leads to inhibition of Tax-induced NF-kappa-B signaling. According to PubMed:19675099, 'Ser-163' does not serve as a monoubiquitination site. According to PubMed:16267042, ubiquitination on 'Ser-163' modulates phosphorylation on C-terminal serine residues.;Upon cytokine stimulation, phosphorylated on Ser-177 and Ser-181 by MEKK1 and/or MAP3K14/NIK as well as TBK1 and PRKCZ; which enhances activity. Once activated, autophosphorylates on the C-terminal serine cluster; which decreases activity and prevents prolonged activation of the inflammatory response. Phosphorylated by the IKK-related kinases TBK1 and IKBKE, which is associated with reduced CHUK/IKKA and IKBKB activity and NF-kappa-B-dependent gene transcription. Dephosphorylated at Ser-177 and Ser-181 by PPM1A and PPM1B.;IKBKB is phosphorylated by MAP3K1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);IKBKB is phosphorylated by PRKCI Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. I-kappa-B kinase subfamily. MAPK signaling pathway;Chemokine signaling pathway;Apoptosis;Osteoclast differentiation;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;T cell receptor signaling pathway;B cell receptor signaling pathway;Neurotrophin signaling pathway;Insulin signaling pathway;Adipocytokine signaling pathway;Type II diabetes mellitus;Epithelial cell signaling in Helicobacter pylori infection;Shigellosis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Hepatitis C;Influenza A;HTLV-I infection;Pathways in cancer;Pancreatic cancer;Prostate cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Small cell lung cancer;Activation of NF-kappaB in B cells;ER-Phagosome pathway;FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;Downstream TCR signaling;NOD1/2 Signaling Pathway;RIP-mediated NFkB activation via ZBP1;p75NTR recruits signalling complexes;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated NF-kB activation;IKK complex recruitment mediated by RIP1;NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10;IKBKB deficiency causes SCID;IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR);IkBA variant leads to EDA-ID;IRAK1 recruits IKK complex;IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation;NF-kB is activated and signals survival;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;MAP3K8 (TPL2)-dependent MAPK1/3 activation;TICAM1, RIP1-mediated IKK complex recruitment;Interleukin-1 signaling PE1 8 +NX_O14921 Regulator of G-protein signaling 13 159 19135 9.07 0 NA NA Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to both G(i)-alpha and G(q)-alpha (By similarity). NA NA G alpha (i) signalling events;G alpha (q) signalling events PE2 1 +NX_O14924 Regulator of G-protein signaling 12 1447 156357 7.2 0 Cytoplasm;Nucleus matrix;Nucleolus;Nucleoplasm;Synapse;Cytosol;Dendrite;Nucleus NA Behaves as a cell cycle-dependent transcriptional repressor, promoting inhibition of S-phase DNA synthesis.;Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. NA NA G alpha (i) signalling events PE1 4 +NX_O14925 Mitochondrial import inner membrane translocase subunit Tim23 209 21943 8.81 3 Mitochondrion inner membrane;Mitochondrion NA Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. NA Belongs to the Tim17/Tim22/Tim23 family. Mitochondrial protein import PE1 10 +NX_O14926 Fascin-2 492 55057 7.95 0 Stereocilium;Cytoskeleton Retinitis pigmentosa 30 Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis. NA Belongs to the fascin family. NA PE1 17 +NX_O14929 Histone acetyltransferase type B catalytic subunit 419 49513 5.52 0 Nucleoplasm;Cytoplasm;Nucleus matrix;Nucleus NA Acetylates soluble but not nucleosomal histone H4 at 'Lys-5' (H4K5ac) and 'Lys-12' (H4K12ac) and, to a lesser extent, acetylates histone H2A at 'Lys-5' (H2AK5ac). Has intrinsic substrate specificity that modifies lysine in recognition sequence GXGKXG. May be involved in nucleosome assembly during DNA replication and repair as part of the histone H3.1 and H3.3 complexes. May play a role in DNA repair in response to free radical damage. NA Belongs to the HAT1 family. HATs acetylate histones PE1 2 +NX_O14931 Natural cytotoxicity triggering receptor 3 201 21593 9.17 1 Cell membrane NA Cell membrane receptor of natural killer/NK cells that is activated by binding of extracellular ligands including BAG6 and NCR3LG1. Stimulates NK cells cytotoxicity toward neighboring cells producing these ligands. It controls, for instance, NK cells cytotoxicity against tumor cells. Engagement of NCR3 by BAG6 also promotes myeloid dendritic cells (DC) maturation, both through killing DCs that did not acquire a mature phenotype, and inducing the release by NK cells of TNFA and IFNG which promote DC maturation. NA Belongs to the natural cytotoxicity receptor (NCR) family. Natural killer cell mediated cytotoxicity;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 6 +NX_O14933 Ubiquitin/ISG15-conjugating enzyme E2 L6 153 17769 7.72 0 Cytosol NA Catalyzes the covalent attachment of ubiquitin or ISG15 to other proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Promotes ubiquitination and subsequent proteasomal degradation of FLT3. ISGylated. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Parkinson's disease;Antigen processing: Ubiquitination & Proteasome degradation;ISG15 antiviral mechanism;Amyloid fiber formation;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Negative regulators of DDX58/IFIH1 signaling;Termination of translesion DNA synthesis PE1 11 +NX_O14936 Peripheral plasma membrane protein CASK 926 105123 5.99 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus FG syndrome 4;Mental retardation and microcephaly with pontine and cerebellar hypoplasia Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1. Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) In the N-terminal section; belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.;Belongs to the MAGUK family. Tight junction;Syndecan interactions;Nephrin family interactions;Dopamine Neurotransmitter Release Cycle;Neurexins and neuroligins;Assembly and cell surface presentation of NMDA receptors PE1 X +NX_O14939 Phospholipase D2 933 105987 7.41 0 Membrane NA May have a role in signal-induced cytoskeletal regulation and/or endocytosis. Phosphorylated by FGR.;PLD2 is phosphorylated by FGR (Phosphotyrosine:PTM-0255) Belongs to the phospholipase D family. Glycerophospholipid metabolism;Ether lipid metabolism;Metabolic pathways;Endocytosis;Fc gamma R-mediated phagocytosis;Glutamatergic synapse;GnRH signaling pathway;Synthesis of PA;Role of phospholipids in phagocytosis;Synthesis of PG PE1 17 +NX_O14944 Proepiregulin 169 19044 7.49 1 Cytoplasmic vesicle;Cell membrane;Extracellular space NA Ligand of the EGF receptor/EGFR and ERBB4. Stimulates EGFR and ERBB4 tyrosine phosphorylation (PubMed:9419975). Contributes to inflammation, wound healing, tissue repair, and oocyte maturation by regulating angiogenesis and vascular remodeling and by stimulating cell proliferation (PubMed:24631357). NA NA ErbB signaling pathway;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;EGFR downregulation;Signaling by ERBB2;Signaling by ERBB4;SHC1 events in ERBB2 signaling;PI3K events in ERBB4 signaling;SHC1 events in ERBB4 signaling;Nuclear signaling by ERBB4;GRB2 events in ERBB2 signaling;PI3K events in ERBB2 signaling;Signaling by EGFR;GAB1 signalosome;GRB2 events in EGFR signaling;SHC1 events in EGFR signaling;EGFR interacts with phospholipase C-gamma;Inhibition of Signaling by Overexpressed EGFR;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;ERBB2 Regulates Cell Motility;ERBB2 Activates PTK6 Signaling;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Downregulation of ERBB2 signaling;Extra-nuclear estrogen signaling;Estrogen-dependent nuclear events downstream of ESR-membrane signaling PE1 4 +NX_O14948 Transcription factor EC 347 38788 5.3 0 Nucleoplasm;Nucleus NA Transcriptional regulator that acts as a repressor or an activator. Acts as a transcriptional repressor on minimal promoter containing element F (that includes an E-box sequence). Binds to element F in an E-box sequence-specific manner. Acts as a transcriptional transactivator on the proximal promoter region of the tartrate-resistant acid phosphatase (TRAP) E-box containing promoter (By similarity). Collaborates with MITF in target gene activation (By similarity). Acts as a transcriptional repressor on minimal promoter containing mu E3 enhancer sequence (By similarity). Binds to mu E3 DNA sequence of the immunoglobulin heavy-chain gene enhancer (By similarity). Binds DNA in a homo- or heterodimeric form. NA Belongs to the MiT/TFE family. NA PE1 7 +NX_O14949 Cytochrome b-c1 complex subunit 8 82 9906 10.07 0 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex III deficiency, nuclear 4 This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This subunit, together with cytochrome b, binds to ubiquinone. NA Belongs to the UQCRQ/QCR8 family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport PE1 5 +NX_O14950 Myosin regulatory light chain 12B 172 19779 4.71 0 Cytoplasm NA Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Phosphorylation triggers actin polymerization in vascular smooth muscle. Implicated in cytokinesis, receptor capping, and cell locomotion. Phosphorylation increases the actin-activated myosin ATPase activity and thereby regulates the contractile activity. It is required to generate the driving force in the migration of the cells but not necessary for localization of myosin-2 at the leading edge. Phosphorylation is reduced following epigallocatechin-3-O-gallate treatment.;MYL12B is phosphorylated by DAPK3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Focal adhesion;Tight junction;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;EPHA-mediated growth cone collapse;Smooth Muscle Contraction;RHO GTPases activate PKNs;Sema4D induced cell migration and growth-cone collapse;RHO GTPases activate CIT;RHO GTPases activate PAKs;RHO GTPases Activate ROCKs PE1 18 +NX_O14957 Cytochrome b-c1 complex subunit 10 56 6570 9.87 1 Mitochondrion inner membrane NA This protein may be closely linked to the iron-sulfur protein in the complex and function as an iron-sulfur protein binding factor.;This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. NA Belongs to the UQCR11/QCR10 family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport PE1 19 +NX_O14958 Calsequestrin-2 399 46436 4.22 0 Sarcoplasmic reticulum lumen Ventricular tachycardia, catecholaminergic polymorphic, 2 Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, especially at the interface between subunits. Can bind around 60 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR2; this plays an important role in triggering muscle contraction. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats. N-glycosylated.;Phosphorylation in the C-terminus, probably by CK2, moderately increases calcium buffering capacity. Belongs to the calsequestrin family. Stimuli-sensing channels;Ion homeostasis PE1 1 +NX_O14960 Leukocyte cell-derived chemotaxin-2 151 16390 9.49 0 Cytoplasm;Secreted NA Has a neutrophil chemotactic activity. Also a positive regulator of chondrocyte proliferation (PubMed:9524238). Does not show metalloendopeptidase activity (PubMed:27334921). NA Belongs to the LECT2/MIM-1 family. NA PE1 5 +NX_O14964 Hepatocyte growth factor-regulated tyrosine kinase substrate 777 86192 5.84 0 Cytoplasm;Endosome;Lysosome;Early endosome membrane;Cytosol;Multivesicular body membrane NA Involved in intracellular signal transduction mediated by cytokines and growth factors. When associated with STAM, it suppresses DNA signaling upon stimulation by IL-2 and GM-CSF. Could be a direct effector of PI3-kinase in vesicular pathway via early endosomes and may regulate trafficking to early and late endosomes by recruiting clathrin. May concentrate ubiquitinated receptors within clathrin-coated regions. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with STAM (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes. May contribute to the efficient recruitment of SMADs to the activin receptor complex. Involved in receptor recycling via its association with the CART complex, a multiprotein complex required for efficient transferrin receptor recycling but not for EGFR degradation. Phosphorylated on Tyr-334. A minor site of phosphorylation on Tyr-329 is detected (By similarity). Phosphorylation occurs in response to EGF, IL-2, GM-CSF and HGF.;Ubiquitinated (PubMed:25588945). Ubiquitinated by ITCH (PubMed:14602072, PubMed:24790097). NA Endosomal Sorting Complex Required For Transport (ESCRT);EGFR downregulation;Lysosome Vesicle Biogenesis;Ub-specific processing proteases;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Negative regulation of MET activity;InlB-mediated entry of Listeria monocytogenes into host cell PE1 17 +NX_O14965 Aurora kinase A 403 45809 9.45 0 Centriole;Cilium basal body;Nucleoplasm;Spindle pole;Centrosome;Cytosol;Neuron projection NA Mitotic serine/threonine kinase that contributes to the regulation of cell cycle progression (PubMed:26246606). Associates with the centrosome and the spindle microtubules during mitosis and plays a critical role in various mitotic events including the establishment of mitotic spindle, centrosome duplication, centrosome separation as well as maturation, chromosomal alignment, spindle assembly checkpoint, and cytokinesis (PubMed:26246606). Required for normal spindle positioning during mitosis and for the localization of NUMA1 and DCTN1 to the cell cortex during metaphase (PubMed:27335426). Required for initial activation of CDK1 at centrosomes. Phosphorylates numerous target proteins, including ARHGEF2, BORA, BRCA1, CDC25B, DLGP5, HDAC6, KIF2A, LATS2, NDEL1, PARD3, PPP1R2, PLK1, RASSF1, TACC3, p53/TP53 and TPX2. Regulates KIF2A tubulin depolymerase activity. Required for normal axon formation. Plays a role in microtubule remodeling during neurite extension. Important for microtubule formation and/or stabilization. Also acts as a key regulatory component of the p53/TP53 pathway, and particularly the checkpoint-response pathways critical for oncogenic transformation of cells, by phosphorylating and stabilizing p53/TP53. Phosphorylates its own inhibitors, the protein phosphatase type 1 (PP1) isoforms, to inhibit their activity. Necessary for proper cilia disassembly prior to mitosis. Ubiquitinated by the E3 ubiquitin-protein ligase complex SCF(FBXL7) during mitosis, leading to its degradation by the proteasome (By similarity). Ubiquitinated by CHFR, leading to its degradation by the proteasome (By similarity). Ubiquitinated by the anaphase-promoting complex (APC), leading to its degradation by the proteasome (PubMed:10851084, PubMed:11039908). Ubiquitinated by the CUL3-KLHL18 ligase leading to its activation at the centrosome which is required for initiating mitotic entry (PubMed:23213400). Ubiquitination mediated by CUL3-KLHL18 ligase does not lead to its degradation by the proteasome (PubMed:23213400).;Activated by phosphorylation at Thr-288; this brings about a change in the conformation of the activation segment. Phosphorylation at Thr-288 varies during the cell cycle and is highest during M phase. Autophosphorylated at Thr-288 upon TPX2 binding. Thr-288 can be phosphorylated by several kinases, including PAK and PKA. Protein phosphatase type 1 (PP1) binds AURKA and inhibits its activity by dephosphorylating Thr-288 during mitosis. Phosphorylation at Ser-342 decreases the kinase activity. PPP2CA controls degradation by dephosphorylating Ser-51 at the end of mitosis.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);AURKA is phosphorylated by LIMK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);AURKA is phosphorylated by SRC (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Aurora subfamily. Oocyte meiosis;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Regulation of PLK1 Activity at G2/M Transition;SUMOylation of DNA replication proteins;AURKA Activation by TPX2;Regulation of TP53 Activity through Phosphorylation;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;Interaction between PHLDA1 and AURKA;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis PE1 20 +NX_O14966 Ras-related protein Rab-7L1 203 23155 6.73 0 trans-Golgi network;Golgi apparatus;Cytoplasm;Vacuole;Cell membrane;Perinuclear region;Cytoskeleton NA The small GTPases Rab are key regulators in vesicle trafficking (PubMed:24788816). Essential for maintaining the integrity of the endosome-trans-Golgi network structure (By similarity). Together with LRRK2, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose 6 phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner (PubMed:24788816). Recruits LRRK2 to the Golgi complex and stimulates LRRK2 kinase activity (PubMed:29212815). Regulates neuronal process morphology in the intact central nervous system (CNS) (By similarity). May play a role in the formation of typhoid toxin transport intermediates during Salmonella enterica serovar Typhi (S.Typhi) epithelial cell infection (PubMed:22042847). In case of Salmonella enterica serovar Typhimurium (S.Typhimurium) infection, is proteolytically cleaved between Gly-41 and Val-42 by the GtgE viral protease encoded on the Gifsy-2 lysogen bacteriophage, which therefore prevents the recruitment of RAB29 to S.Typhimurium-containing vacuoles. In contrast, no proteolytically cleavage is detected in S.Typhi-infected cells (PubMed:22042847). Belongs to the small GTPase superfamily. Rab family. RAB geranylgeranylation PE1 1 +NX_O14967 Calmegin 610 70039 4.58 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Functions during spermatogenesis as a chaperone for a range of client proteins that are important for sperm adhesion onto the egg zona pellucida and for subsequent penetration of the zona pellucida. Required for normal sperm migration from the uterus into the oviduct. Required for normal male fertility. Binds calcium ions (By similarity). NA Belongs to the calreticulin family. NA PE1 4 +NX_O14972 Vacuolar protein sorting-associated protein 26C 297 33010 7.6 0 Endosome;Mitochondrion NA Acts as component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1) (PubMed:28892079). The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes (PubMed:28892079). In the endosomes, drives the retriever and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of numerous cell surface proteins associated with processes that include cell migration, cell adhesion, nutrient supply and cell signaling (PubMed:28892079).;(Microbial infection) The heterotrimeric retriever complex, in collaboration with the CCC complex, mediates the exit of human papillomavirus to the cell surface. NA Belongs to the VPS26 family. NA PE1 21 +NX_O14974 Protein phosphatase 1 regulatory subunit 12A 1030 115281 5.31 0 Cytoplasm;Stress fiber;Cytosol;Cytoskeleton NA Key regulator of protein phosphatase 1C (PPP1C). Mediates binding to myosin. As part of the PPP1C complex, involved in dephosphorylation of PLK1. Capable of inhibiting HIF1AN-dependent suppression of HIF1A activity. Phosphorylated by CIT (Rho-associated kinase) (By similarity). Phosphorylated cooperatively by ROCK1 and CDC42BP on Thr-696. Phosphorylated on upon DNA damage, probably by ATM or ATR. In vitro, phosphorylation of Ser-695 by PKA and PKG appears to prevent phosphorylation of the inhibitory site Thr-696, probably mediated by PRKG1. Phosphorylation at Ser-445, Ser-472 and Ser-910 by NUAK1 promotes interaction with 14-3-3, leading to inhibit interaction with myosin light chain MLC2, preventing dephosphorylation of MLC2. May be phosphorylated at Thr-696 by DMPK; may inhibit the myosin phosphatase activity. Phosphorylated at Ser-473 by CDK1 during mitosis, creating docking sites for the POLO box domains of PLK1. Subsequently, PLK1 binds and phosphorylates PPP1R12A.;PPP1R12A is phosphorylated by ROCK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);PPP1R12A is phosphorylated by DAPK3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);PPP1R12A is phosphorylated by NUAK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);PPP1R12A is phosphorylated by CDC42BPA (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Vascular smooth muscle contraction;Focal adhesion;Long-term potentiation;Regulation of actin cytoskeleton;Regulation of PLK1 Activity at G2/M Transition;RHO GTPases activate PKNs;RHO GTPases activate CIT;RHO GTPases activate PAKs;RHO GTPases Activate ROCKs PE1 12 +NX_O14975 Very long-chain acyl-CoA synthetase 620 70312 8.75 3 Peroxisome membrane;Endoplasmic reticulum membrane;Microsome;Cell membrane NA Exhibits long-chain fatty acids (LCFA) transport activity but lacks acyl CoA synthetase towards very long-chain fatty acids.;Acyl CoA synthetase that activates long-chain and very long-chain fatty acids (VLCFAs) by catalyzing the formation of fatty acyl-CoA (PubMed:10198260, PubMed:10749848, PubMed:11980911). Can also activate branched-chain fatty acids such as phytanic acid and pristanic acid (PubMed:10198260). Does not activate C24 bile acids, cholate and chenodeoxycholate (PubMed:11980911). In vitro, activates 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol (PubMed:11980911). Exhibits long-chain fatty acids (LCFA) transport activity and plays an important role in hepatic fatty acid uptake (PubMed:20530735).;Exhibits both long-chain fatty acids (LCFA) transport activity and acyl CoA synthetase towards very long-chain fatty acids (PubMed:21768100). Shows a preference for generating CoA derivatives of n-3 fatty acids, which are preferentially trafficked into phosphatidylinositol (PubMed:21768100). NA Belongs to the ATP-dependent AMP-binding enzyme family. PPAR signaling pathway;Peroxisome;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 24-hydroxycholesterol;Alpha-oxidation of phytanate;Neutrophil degranulation;Peroxisomal protein import PE1 15 +NX_O14976 Cyclin-G-associated kinase 1311 143191 5.49 0 trans-Golgi network;Golgi apparatus;Focal adhesion;Cytoplasmic vesicle;Perinuclear region NA Associates with cyclin G and CDK5. Seems to act as an auxilin homolog that is involved in the uncoating of clathrin-coated vesicles by Hsc70 in non-neuronal cells. Expression oscillates slightly during the cell cycle, peaking at G1. NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Golgi Associated Vesicle Biogenesis;Clathrin-mediated endocytosis PE1 4 +NX_O14977 Antizyme inhibitor 1 448 49535 4.66 0 Cytoplasmic vesicle;Nucleus NA Antizyme inhibitor (AZI) protein that positively regulates ornithine decarboxylase (ODC) activity and polyamine uptake. AZI is an enzymatically inactive ODC homolog that counteracts the negative effect of ODC antizymes (AZs) OAZ1, OAZ2 and OAZ3 on ODC activity by competing with ODC for antizyme-binding (PubMed:17900240, PubMed:26305948). Inhibits antizyme-dependent ODC degradation and releases ODC monomers from their inactive complex with antizymes, leading to formation of the catalytically active ODC homodimer and restoring polyamine production (PubMed:17900240). Ubiquitinated, leading to its proteasomal degradation; a process that is reduced in presence of antizyme OAZ1. Belongs to the Orn/Lys/Arg decarboxylase class-II family. ODC antizyme inhibitor subfamily. Regulation of ornithine decarboxylase (ODC) PE1 8 +NX_O14978 Zinc finger protein 263 683 77299 6.54 0 Nucleoplasm;Cytosol;Spindle;Nucleus NA Might play an important role in basic cellular processes as a transcriptional repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_O14979 Heterogeneous nuclear ribonucleoprotein D-like 420 46438 9.59 0 Cytoplasm;Nucleoplasm;Nucleus Muscular dystrophy, limb-girdle, autosomal dominant 3 Acts as a transcriptional regulator. Promotes transcription repression. Promotes transcription activation in differentiated myotubes (By similarity). Binds to double- and single-stranded DNA sequences. Binds to the transcription suppressor CATR sequence of the COX5B promoter (By similarity). Binds with high affinity to RNA molecules that contain AU-rich elements (AREs) found within the 3'-UTR of many proto-oncogenes and cytokine mRNAs. Binds both to nuclear and cytoplasmic poly(A) mRNAs. Binds to poly(G) and poly(A), but not to poly(U) or poly(C) RNA homopolymers. Binds to the 5'-ACUAGC-3' RNA consensus sequence. Dimethylation of Arg-408 is probably of the asymmetric type. NA Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 4 +NX_O14980 Exportin-1 1071 123386 5.71 0 Cajal body;Cytoplasm;Nucleus membrane;Nucleolus;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA Mediates the nuclear export of cellular proteins (cargos) bearing a leucine-rich nuclear export signal (NES) and of RNAs. In the nucleus, in association with RANBP3, binds cooperatively to the NES on its target protein and to the GTPase RAN in its active GTP-bound form (Ran-GTP). Docking of this complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Involved in U3 snoRNA transport from Cajal bodies to nucleoli. Binds to late precursor U3 snoRNA bearing a TMG cap.;(Microbial infection) Mediates the export of unspliced or incompletely spliced RNAs out of the nucleus from different viruses including HIV-1, HTLV-1 and influenza A. Interacts with, and mediates the nuclear export of HIV-1 Rev and HTLV-1 Rex proteins. Involved in HTLV-1 Rex multimerization. NA Belongs to the exportin family. Ribosome biogenesis in eukaryotes;RNA transport;Influenza A;HTLV-I infection;Separation of Sister Chromatids;MAPK6/MAPK4 signaling;Rev-mediated nuclear export of HIV RNA;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Cyclin A/B1/B2 associated events during G2/M transition;Downregulation of TGF-beta receptor signaling;Deactivation of the beta-catenin transactivating complex;HuR (ELAVL1) binds and stabilizes mRNA;NEP/NS2 Interacts with the Cellular Export Machinery;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Estrogen-dependent nuclear events downstream of ESR-membrane signaling PE1 2 +NX_O14981 TATA-binding protein-associated factor 172 1849 206887 6.08 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Regulates transcription in association with TATA binding protein (TBP). Removes TBP from the TATA box in an ATP-dependent manner. NA Belongs to the SNF2/RAD54 helicase family. NA PE1 10 +NX_O14983 Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 1001 110252 5.07 10 Endoplasmic reticulum;Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane Brody myopathy Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (By similarity). Contributes to calcium sequestration involved in muscular excitation/contraction (PubMed:10914677). NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. Calcium signaling pathway;Pancreatic secretion;Alzheimer's disease;Ion transport by P-type ATPases;Pre-NOTCH Processing in Golgi;Reduction of cytosolic Ca++ levels;Ion homeostasis PE1 16 +NX_O14986 Phosphatidylinositol 4-phosphate 5-kinase type-1 beta 540 61036 6.39 0 Nucleoplasm;Endomembrane system;Cytoplasmic vesicle NA Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. Mediates RAC1-dependent reorganization of actin filaments. Contributes to the activation of PLD2. Together with PIP5K1A is required after stimulation of G-protein coupled receptors for stable platelet adhesion (By similarity). NA NA Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Endocytosis;Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Synthesis of PIPs at the plasma membrane;WNT mediated activation of DVL;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 9 +NX_O14990 Protein phosphatase inhibitor 2 family member C 202 22660 5.04 0 NA NA Functions as a protein phosphatase inhibitor. It inhibits activity of the catalytic subunit of PP1 and weakly inhibits the activity of myosin-associated phosphates. NA Belongs to the protein phosphatase inhibitor 2 family. NA PE1 X +NX_O14994 Synapsin-3 580 63303 9.42 0 Synaptic vesicle membrane NA May be involved in the regulation of neurotransmitter release and synaptogenesis. Phosphorylation at Ser-9 dissociates synapsins from synaptic vesicles. Belongs to the synapsin family. Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle PE1 22 +NX_O15013 Rho guanine nucleotide exchange factor 10 1369 151612 5.46 0 Nucleoplasm Slowed nerve conduction velocity May play a role in developmental myelination of peripheral nerves. Methylated at Gln-1338 by N6AMT1. NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 8 +NX_O15014 Zinc finger protein 609 1411 151191 8.24 0 Nucleoplasm;Cytosol;Nucleus NA Involved in the regulation of myoblast proliferation during myogenesis.;Transcription factor, which activates RAG1, and possibly RAG2, transcription. Through the regulation of RAG1/2 expression, may regulate thymocyte maturation. Along with NIPBL and the multiprotein complex Integrator, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others. NA NA NA PE1 15 +NX_O15015 Zinc finger protein 646 1832 200825 6.8 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 16 +NX_O15016 Tripartite motif-containing protein 66 1216 134663 6.53 0 Nucleoplasm;Nucleus NA May function as transcription repressor; The repressive effects are mediated, at least in part, by recruitment of deacetylase activity. May play a role as negative regulator of postmeiotic genes acting through CBX3 complex formation and centromere association (By similarity). NA NA NA PE1 11 +NX_O15018 PDZ domain-containing protein 2 2839 301641 7.14 0 Cytoplasm;Cell membrane;Secreted;Endoplasmic reticulum;Cytosol;Nucleus NA NA A secreted form is produced by caspase-mediated proteolytic cleavage. NA NA PE1 5 +NX_O15020 Spectrin beta chain, non-erythrocytic 2 2390 271325 5.79 0 Cytosol;Cell junction;Cytoskeleton;Cell cortex Spinocerebellar ataxia, autosomal recessive, 14;Spinocerebellar ataxia 5 Probably plays an important role in neuronal membrane skeleton. NA Belongs to the spectrin family. RAF/MAP kinase cascade;MHC class II antigen presentation;Interaction between L1 and Ankyrins;NCAM signaling for neurite out-growth;COPI-mediated anterograde transport PE1 11 +NX_O15021 Microtubule-associated serine/threonine-protein kinase 4 2623 284097 8.85 0 Nucleoplasm;Cytoplasm;Cytosol NA NA NA Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. NA PE1 5 +NX_O15027 Protein transport protein Sec16A 2357 251894 5.51 0 Microsome membrane;Golgi apparatus;Endoplasmic reticulum membrane;Endoplasmic reticulum;Golgi apparatus membrane;Cytosol;Perinuclear region NA Acts as a molecular scaffold that plays a key role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining an ERES. Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:17192411, PubMed:17005010, PubMed:17428803, PubMed:21768384, PubMed:22355596). Mediates the recruitment of MIA3/TANGO to ERES (PubMed:28442536). Regulates both conventional (ER/Golgi-dependent) and GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of CFTR to cell membrane (PubMed:28067262). Positively regulates the protein stability of E3 ubiquitin-protein ligases RNF152 and RNF183 and the ER localization of RNF183 (PubMed:29300766). Acts as a RAB10 effector in the regulation of insulin-induced SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the cell membrane in adipocytes (By similarity). NA Belongs to the SEC16 family. COPII-mediated vesicle transport PE1 9 +NX_O15031 Plexin-B2 1838 205127 5.85 1 Cell membrane NA Cell surface receptor for SEMA4C, SEMA4D and SEMA4G that plays an important role in cell-cell signaling (By similarity). Plays a role in glutamatergic synapse development and is required for SEMA4A-mediated excitatory synapse development (By similarity). Binding to class 4 semaphorins promotes downstream activation of RHOA and phosphorylation of ERBB2 at 'Tyr-1248' (By similarity). Required for normal differentiation and migration of neuronal cells during brain corticogenesis and for normal embryonic brain development (By similarity). Regulates the migration of cerebellar granule cells in the developing brain (By similarity). Plays a role in RHOA activation and subsequent changes of the actin cytoskeleton (PubMed:12183458). Plays a role in axon guidance, invasive growth and cell migration (PubMed:15184888). May modulate the activity of RAC1 and CDC42 (By similarity). NA Belongs to the plexin family. Axon guidance PE1 22 +NX_O15033 Apoptosis-resistant E3 ubiquitin protein ligase 1 823 94223 6.85 0 Cytosol NA E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits apoptosis by ubiquitinating and targeting for degradation a number of proapoptotic proteins including DIABLO/SMAC, HTRA2 and SEPT4/ARTS which are released from the mitochondrion into the cytosol following apoptotic stimulation. Autoubiquitinated in vitro in the presence of E2 enzyme UBE2D1/UBCH5A. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 14 +NX_O15034 RIMS-binding protein 2 1052 116026 5.16 0 Golgi apparatus;Cell membrane;Nucleoplasm;Synapse;Cytosol NA Plays a role in the synaptic transmission as bifunctional linker that interacts simultaneously with RIMS1, RIMS2, CACNA1D and CACNA1B. NA Belongs to the RIMBP family. NA PE1 12 +NX_O15037 Protein KHNYN 678 74534 6.57 0 Nucleoplasm;Cytosol NA NA NA Belongs to the N4BP1 family. NA PE1 14 +NX_O15040 Tectonin beta-propeller repeat-containing protein 2 1411 153848 5.34 0 Nucleoplasm Spastic paraplegia 49, autosomal recessive Probably plays a role as positive regulator of autophagy. NA Belongs to the WD repeat KIAA0329 family. NA PE1 14 +NX_O15041 Semaphorin-3E 775 89228 7.2 0 Cytoplasmic vesicle;Nucleoplasm;Secreted NA Plays an important role in signaling via the cell surface receptor PLXND1. Mediates reorganization of the actin cytoskeleton, leading to the retraction of cell projections. Promotes focal adhesion disassembly and inhibits adhesion of endothelial cells to the extracellular matrix. Regulates angiogenesis, both during embryogenesis and after birth. Can down-regulate sprouting angiogenesis. Required for normal vascular patterning during embryogenesis. Plays an important role in ensuring the specificity of synapse formation (By similarity). NA Belongs to the semaphorin family. Axon guidance;Other semaphorin interactions PE1 7 +NX_O15042 U2 snRNP-associated SURP motif-containing protein 1029 118292 8.59 0 Nucleoplasm;Nucleus NA NA NA Belongs to the splicing factor SR family. Spliceosome;mRNA Splicing - Major Pathway PE1 3 +NX_O15047 Histone-lysine N-methyltransferase SETD1A 1707 186034 5.07 0 Nucleus speckle;Chromosome NA Histone methyltransferase that specifically methylates 'Lys-4' of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring 'Lys-9' residue is already methylated. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. The non-overlapping localization with SETD1B suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Lysine degradation;PKMTs methylate histone lysines;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 16 +NX_O15049 NEDD4-binding protein 3 544 60470 8.33 0 Nucleoplasm;Centrosome;Cytoplasmic vesicle;Axon;Dendrite NA Plays a role in axon and dendrite arborization during cranial nerve development. May also be important for neural crest migration and early development of other anterior structures including eye, brain and cranial cartilage. NA Belongs to the N4BP3 family. NA PE1 5 +NX_O15050 TPR and ankyrin repeat-containing protein 1 2925 336221 6.34 0 Nucleoplasm NA NA NA NA NA PE1 3 +NX_O15054 Lysine-specific demethylase 6B 1643 176632 8.83 0 Nucleus speckle;Nucleus NA Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17825402, PubMed:17851529, PubMed:17713478, PubMed:18003914). Demethylates trimethylated and dimethylated H3 'Lys-27' (PubMed:17825402, PubMed:17851529, PubMed:17713478, PubMed:18003914). Plays a central role in regulation of posterior development, by regulating HOX gene expression (PubMed:17851529). Involved in inflammatory response by participating in macrophage differentiation in case of inflammation by regulating gene expression and macrophage differentiation (PubMed:17825402). Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression by acting as a link between T-box factors and the SMARCA4-containing SWI/SNF remodeling complex (By similarity). NA Belongs to the UTX family. Oxidative Stress Induced Senescence;HDMs demethylate histones PE1 17 +NX_O15055 Period circadian protein homolog 2 1255 136579 6.04 0 Cytoplasm;Nucleus;Perinuclear region;Nucleolus Advanced sleep phase syndrome, familial, 1 Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndrome and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. PER1 and PER2 proteins transport CRY1 and CRY2 into the nucleus with appropriate circadian timing, but also contribute directly to repression of clock-controlled target genes through interaction with several classes of RNA-binding proteins, helicases and others transcriptional repressors. PER appears to regulate circadian control of transcription by at least three different modes. First, interacts directly with the CLOCK-ARTNL/BMAL1 at the tail end of the nascent transcript peak to recruit complexes containing the SIN3-HDAC that remodel chromatin to repress transcription. Second, brings H3K9 methyltransferases such as SUV39H1 and SUV39H2 to the E-box elements of the circadian target genes, like PER2 itself or PER1. The recruitment of each repressive modifier to the DNA seems to be very precisely temporally orchestrated by the large PER complex, the deacetylases acting before than the methyltransferases. Additionally, large PER complexes are also recruited to the target genes 3' termination site through interactions with RNA-binding proteins and helicases that may play a role in transcription termination to regulate transcription independently of CLOCK-ARTNL/BMAL1 interactions. Recruitment of large PER complexes to the elongating polymerase at PER and CRY termination sites inhibited SETX action, impeding RNA polymerase II release and thereby repressing transcriptional reinitiation. May propagate clock information to metabolic pathways via the interaction with nuclear receptors. Coactivator of PPARA and corepressor of NR1D1, binds rhythmically at the promoter of nuclear receptors target genes like ARNTL or G6PC. Directly and specifically represses PPARG proadipogenic activity by blocking PPARG recruitment to target promoters and thereby inhibiting transcriptional activation. Required for fatty acid and lipid metabolism, is involved as well in the regulation of circulating insulin levels. Plays an important role in the maintenance of cardiovascular functions through the regulation of NO and vasodilatatory prostaglandins production in aortas. Controls circadian glutamate uptake in synaptic vesicles through the regulation of VGLUT1 expression. May also be involved in the regulation of inflammatory processes. Represses the CLOCK-ARNTL/BMAL1 induced transcription of BHLHE40/DEC1 and ATF4. Negatively regulates the formation of the TIMELESS-CRY1 complex by competing with TIMELESS for binding to CRY1. Acetylated. Deacetylated by SIRT1, resulting in decreased protein stability.;Phosphorylated by CSNK1E and CSNK1D. Phosphorylation results in PER2 protein degradation. May be dephosphorylated by PP1.;Ubiquitinated, leading to its proteasomal degradation. Ubiquitination may be inhibited by CRY1. NA Circadian rhythm - mammal;Herpes simplex infection;Circadian Clock PE1 2 +NX_O15056 Synaptojanin-2 1496 165538 6.96 0 Cytoplasm;Cell membrane;Presynapse;Cytosol;Membrane raft;Cytoskeleton NA Inositol 5-phosphatase which may be involved in distinct membrane trafficking and signal transduction pathways. May mediate the inhibitory effect of Rac1 on endocytosis. NA In the central section; belongs to the inositol 1,4,5-trisphosphate 5-phosphatase family.;Belongs to the synaptojanin family. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PIPs at the plasma membrane;Clathrin-mediated endocytosis PE1 6 +NX_O15060 Zinc finger and BTB domain-containing protein 39 712 79001 6.06 0 Cytoplasmic vesicle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 12 +NX_O15061 Synemin 1565 172768 5.09 0 Adherens junction;Cytoskeleton NA Type-VI intermediate filament (IF) which plays an important cytoskeletal role within the muscle cell cytoskeleton. It forms heteropolymeric IFs with desmin and/or vimentin, and via its interaction with cytoskeletal proteins alpha-dystrobrevin, dystrophin, talin-1, utrophin and vinculin, is able to link these heteropolymeric IFs to adherens-type junctions, such as to the costameres, neuromuscular junctions, and myotendinous junctions within striated muscle cells. NA Belongs to the intermediate filament family. NA PE1 15 +NX_O15062 Zinc finger and BTB domain-containing protein 5 677 74278 5.79 0 Golgi apparatus;Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 9 +NX_O15063 Uncharacterized protein KIAA0355 1070 116020 6.72 0 Cytoplasm;Nucleoplasm NA NA NA NA NA PE1 19 +NX_O15066 Kinesin-like protein KIF3B 747 85125 7.3 0 Golgi apparatus;Cilium;Nucleolus;Nucleoplasm;Cytoskeleton NA Involved in tethering the chromosomes to the spindle pole and in chromosome movement. Microtubule-based anterograde translocator for membranous organelles. Plus end-directed microtubule sliding activity in vitro (By similarity). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin II subfamily. MHC class II antigen presentation;Intraflagellar transport;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 20 +NX_O15067 Phosphoribosylformylglycinamidine synthase 1338 144734 5.5 0 Cytoplasmic vesicle;Cytoplasm NA Phosphoribosylformylglycinamidine synthase involved in the purines biosynthetic pathway. Catalyzes the ATP-dependent conversion of formylglycinamide ribonucleotide (FGAR) and glutamine to yield formylglycinamidine ribonucleotide (FGAM) and glutamate (By similarity). NA In the N-terminal section; belongs to the FGAMS family. Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole from N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide: step 1/2.;Purine metabolism;Metabolic pathways;Purine ribonucleoside monophosphate biosynthesis PE1 17 +NX_O15068 Guanine nucleotide exchange factor DBS 1137 128109 6.02 0 Cytoplasm;Endomembrane system;Cell membrane NA Guanine nucleotide exchange factor that catalyzes guanine nucleotide exchange on RHOA and CDC42, and thereby contributes to the regulation of RHOA and CDC42 signaling pathways (By similarity). Seems to lack activity with RAC1. Becomes activated and highly tumorigenic by truncation of the N-terminus (By similarity).;Activates CDC42 (PubMed:15157669).;Does not catalyze guanine nucleotide exchange on CDC42 (PubMed:15157669). NA Belongs to the MCF2 family. Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 13 +NX_O15069 NAC-alpha domain-containing protein 1 1562 161101 4.12 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA May prevent inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). May bind to nascent polypeptide chains as they emerge from the ribosome and block their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. May also reduce the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites) (By similarity). NA Belongs to the NAC-alpha family. NA PE1 7 +NX_O15072 A disintegrin and metalloproteinase with thrombospondin motifs 3 1205 135603 6.76 0 Extracellular matrix;Secreted;Cytoskeleton Hennekam lymphangiectasia-lymphedema syndrome 3 Cleaves the propeptides of type II collagen prior to fibril assembly. Does not act on types I and III collagens. The precursor is cleaved by a furin endopeptidase.;Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity). NA O-glycosylation of TSR domain-containing proteins;Collagen biosynthesis and modifying enzymes;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 4 +NX_O15075 Serine/threonine-protein kinase DCLK1 740 82224 8.84 0 Nucleoplasm;Cytosol NA Probable kinase that may be involved in a calcium-signaling pathway controlling neuronal migration in the developing brain. May also participate in functions of the mature nervous system. Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. NA PE1 13 +NX_O15078 Centrosomal protein of 290 kDa 2479 290386 5.75 0 Centriole;Centriolar satellite;Cilium;Cilium basal body;Centrosome;Cytoplasmic vesicle;Nucleus Senior-Loken syndrome 6;Leber congenital amaurosis 10;Meckel syndrome 4;Bardet-Biedl syndrome 14;Joubert syndrome 5 Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 (PubMed:24421332). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium (PubMed:17705300). In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 (PubMed:25552655). Activates ATF4-mediated transcription (PubMed:16682973). Ubiquitinated. May undergo monoubiquitination; monoubiquitination is inhibited in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, but does not cause it displacement from centriolar satellites. NA Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2;Neutrophil degranulation PE1 12 +NX_O15079 Syntaphilin 494 53537 5.41 1 Membrane;Mitochondrion;Cytoskeleton;Synaptosome NA Inhibits SNARE complex formation by absorbing free syntaxin-1. NA NA NA PE1 20 +NX_O15083 ERC protein 2 957 110558 6.51 0 Cytoplasm;Cytoskeleton;Synapse;Synaptosome NA Thought to be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. Seems to act together with BSN. May recruit liprin-alpha proteins to the CAZ. NA NA NA PE1 3 +NX_O15084 Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A 1053 112966 5.8 0 Nucleoplasm NA Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha. Selectively inhibits the phosphatase activity of PPP1C. Targets PPP1C to modulate HNRPK phosphorylation. NA NA COPII-mediated vesicle transport PE1 3 +NX_O15085 Rho guanine nucleotide exchange factor 11 1522 167704 5.33 0 Membrane;Nucleoplasm;Cytoplasm;Cell membrane NA May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. Involved in neurotrophin-induced neurite outgrowth. Ubiquitinated by the BCR(KLHL20) E3 ubiquitin ligase complex when previously phosphorylated by MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14), leading to its degradation, thereby restricting RhoA activity and facilitating growth cone spreading and neurite outgrowth.;Phosphorylated by MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14). NA Vascular smooth muscle contraction;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events;Sema4D induced cell migration and growth-cone collapse PE1 1 +NX_O15090 Zinc finger protein 536 1300 141417 6.86 0 Nucleoplasm;Cell junction;Nucleus NA May be involved in transcriptional regulation. Recognizes and binds 2 copies of the core DNA sequence 5'-CCCCCA-3'. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_O15091 Mitochondrial ribonuclease P catalytic subunit 583 67315 8.97 0 Nucleoplasm;Mitochondrion NA Catalytic ribonuclease component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and PRORP/MRPP3, which cleaves tRNA molecules in their 5'-ends (PubMed:18984158, PubMed:25953853). The presence of TRMT10C/MRPP1, HSD17B10/MRPP2 is required to catalyze tRNA molecules in their 5'-ends (PubMed:25953853). Degraded by LONP1 following mitochondrial unfolded protein response, probably leading to inhibit translation in mitochondrion. Belongs to the PPR family. P subfamily. tRNA processing in the mitochondrion;tRNA modification in the mitochondrion;rRNA processing in the mitochondrion PE1 14 +NX_O15105 Mothers against decapentaplegic homolog 7 426 46426 8.63 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Colorectal cancer 3 Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signaling by associating with their receptors thus preventing SMAD2 access. Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A-PP1 complex to TGFBR1, which promotes its dephosphorylation. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator. Ubiquitinated by WWP1 (By similarity). Polyubiquitinated by RNF111, which is enhanced by AXIN1 and promotes proteasomal degradation (PubMed:14657019, PubMed:16601693). In response to TGF-beta, ubiquitinated by SMURF1; which promotes its degradation (PubMed:11278251).;Phosphorylation on Ser-249 does not affect its stability, nuclear localization or inhibitory function in TGFB signaling; however it affects its ability to regulate transcription (By similarity). Phosphorylated by PDPK1.;Acetylation prevents ubiquitination and degradation mediated by SMURF1. Belongs to the dwarfin/SMAD family. Endocytosis;TGF-beta signaling pathway;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Signaling by BMP;Downregulation of TGF-beta receptor signaling;UCH proteinases;Ub-specific processing proteases PE1 18 +NX_O15111 Inhibitor of nuclear factor kappa-B kinase subunit alpha 745 84640 6.27 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus Cocoon syndrome Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses. Acts as part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation and phosphorylates inhibitors of NF-kappa-B on serine residues. These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome. In turn, free NF-kappa-B is translocated into the nucleus and activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis. Negatively regulates the pathway by phosphorylating the scaffold protein TAXBP1 and thus promoting the assembly of the A20/TNFAIP3 ubiquitin-editing complex (composed of A20/TNFAIP3, TAX1BP1, and the E3 ligases ITCH and RNF11). Therefore, CHUK plays a key role in the negative feedback of NF-kappa-B canonical signaling to limit inflammatory gene activation. As part of the non-canonical pathway of NF-kappa-B activation, the MAP3K14-activated CHUK/IKKA homodimer phosphorylates NFKB2/p100 associated with RelB, inducing its proteolytic processing to NFKB2/p52 and the formation of NF-kappa-B RelB-p52 complexes. In turn, these complexes regulate genes encoding molecules involved in B-cell survival and lymphoid organogenesis. Participates also in the negative feedback of the non-canonical NF-kappa-B signaling pathway by phosphorylating and destabilizing MAP3K14/NIK. Within the nucleus, phosphorylates CREBBP and consequently increases both its transcriptional and histone acetyltransferase activities. Modulates chromatin accessibility at NF-kappa-B-responsive promoters by phosphorylating histones H3 at 'Ser-10' that are subsequently acetylated at 'Lys-14' by CREBBP. Additionally, phosphorylates the CREBBP-interacting protein NCOA3. Also phosphorylates FOXO3 and may regulate this pro-apoptotic transcription factor (PubMed:15084260). (Microbial infection) Acetylation of Thr-179 by Yersinia yopJ prevents phosphorylation and activation, thus blocking the I-kappa-B signaling pathway.;Phosphorylated by MAP3K14/NIK, AKT and to a lesser extent by MEKK1, and dephosphorylated by PP2A. Autophosphorylated.;CHUK is phosphorylated by PRKCD (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);CHUK is phosphorylated by MAP3K1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. I-kappa-B kinase subfamily. MAPK signaling pathway;Chemokine signaling pathway;Apoptosis;Osteoclast differentiation;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;T cell receptor signaling pathway;B cell receptor signaling pathway;Adipocytokine signaling pathway;Epithelial cell signaling in Helicobacter pylori infection;Shigellosis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Hepatitis C;Measles;HTLV-I infection;Pathways in cancer;Pancreatic cancer;Prostate cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Small cell lung cancer;Activation of NF-kappaB in B cells;ER-Phagosome pathway;FCERI mediated NF-kB activation;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;NIK-->noncanonical NF-kB signaling;Downstream TCR signaling;NOD1/2 Signaling Pathway;RIP-mediated NFkB activation via ZBP1;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated NF-kB activation;Constitutive Signaling by AKT1 E17K in Cancer;IKK complex recruitment mediated by RIP1;NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10;AKT phosphorylates targets in the cytosol;IKBKB deficiency causes SCID;IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR);IkBA variant leads to EDA-ID;IRAK1 recruits IKK complex;IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;MAP3K8 (TPL2)-dependent MAPK1/3 activation;TICAM1, RIP1-mediated IKK complex recruitment;Interleukin-1 signaling PE1 10 +NX_O15116 U6 snRNA-associated Sm-like protein LSm1 133 15179 5.11 0 Cytoplasm;Cytosol;P-body;Cytoplasmic vesicle NA Plays a role in the degradation of histone mRNAs, the only eukaryotic mRNAs that are not polyadenylated (PubMed:18172165). Probably also part of an LSm subunits-containing complex involved in the general process of mRNA degradation (By similarity). NA Belongs to the snRNP Sm proteins family. RNA degradation;mRNA decay by 5' to 3' exoribonuclease PE1 8 +NX_O15117 FYN-binding protein 1 783 85387 6.11 0 Cytoplasm;Cell membrane;Cell junction;Nucleoplasm;Nucleus Thrombocytopenia 3 Acts as an adapter protein of the FYN and LCP2 signaling cascades in T-cells. Modulates the expression of interleukin-2 (IL-2). Involved in platelet activation. Prevents the degradation of SKAP1 and SKAP2. May play a role in linking T-cell signaling to remodeling of the actin cytoskeleton. T-cell receptor ligation leads to increased tyrosine phosphorylation. NA Generation of second messenger molecules;Signal regulatory protein family interactions PE1 5 +NX_O15118 NPC intracellular cholesterol transporter 1 1278 142167 5.17 13 Nucleoplasm;Lysosome membrane;Late endosome membrane;Cytoplasmic vesicle Niemann-Pick disease C1 (Microbial infection) Acts as an endosomal entry receptor for ebolavirus.;Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment (PubMed:9211849, PubMed:9927649, PubMed:10821832, PubMed:18772377, PubMed:27238017, PubMed:12554680). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:9211849, PubMed:9927649, PubMed:18772377, PubMed:19563754, PubMed:27238017, PubMed:28784760). Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket (PubMed:19563754). Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals (Probable). N-glycosylated. Belongs to the patched family. Lysosome;LDL clearance PE1 18 +NX_O15119 T-box transcription factor TBX3 743 79389 8.3 0 Nucleoplasm;Cytosol;Nucleus Ulnar-mammary syndrome Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence. NA NA NA PE1 12 +NX_O15120 1-acyl-sn-glycerol-3-phosphate acyltransferase beta 278 30914 9.21 2 Endoplasmic reticulum membrane;Centrosome Congenital generalized lipodystrophy 1 Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. NA Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3.;Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Fat digestion and absorption;Synthesis of PA;Neutrophil degranulation PE1 9 +NX_O15121 Sphingolipid delta(4)-desaturase DES1 323 37866 6.97 6 Membrane;Endoplasmic reticulum membrane;Mitochondrion NA Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine). Myristoylation can target the enzyme to the mitochondria leading to an increase in ceramide levels. Belongs to the fatty acid desaturase type 1 family. DEGS subfamily. Sphingolipid metabolism;Metabolic pathways;Sphingolipid de novo biosynthesis;Neutrophil degranulation PE1 1 +NX_O15123 Angiopoietin-2 496 56919 5.41 0 Secreted NA Binds to TEK/TIE2, competing for the ANGPT1 binding site, and modulating ANGPT1 signaling. Can induce tyrosine phosphorylation of TEK/TIE2 in the absence of ANGPT1. In the absence of angiogenic inducers, such as VEGF, ANGPT2-mediated loosening of cell-matrix contacts may induce endothelial cell apoptosis with consequent vascular regression. In concert with VEGF, it may facilitate endothelial cell migration and proliferation, thus serving as a permissive angiogenic signal. NA NA Tie2 Signaling PE1 8 +NX_O15126 Secretory carrier-associated membrane protein 1 338 37920 7.03 4 trans-Golgi network membrane;Cell junction;Nucleoplasm;Recycling endosome membrane;Cytoplasmic vesicle NA Functions in post-Golgi recycling pathways. Acts as a recycling carrier to the cell surface. NA Belongs to the SCAMP family. Neutrophil degranulation PE1 5 +NX_O15127 Secretory carrier-associated membrane protein 2 329 36649 5.72 4 Golgi apparatus;Cell membrane;trans-Golgi network membrane;Recycling endosome membrane;Cytoplasmic vesicle NA Functions in post-Golgi recycling pathways. Acts as a recycling carrier to the cell surface. NA Belongs to the SCAMP family. NA PE1 15 +NX_O15130 Pro-FMRFamide-related neuropeptide FF 113 12440 5.04 0 Secreted NA Morphine modulating peptides. Have wide-ranging physiologic effects, including the modulation of morphine-induced analgesia, elevation of arterial blood pressure, and increased somatostatin secretion from the pancreas. Neuropeptide FF potentiates and sensitizes ASIC1 and ASIC3 channels. NA Belongs to the FARP (FMRFamide related peptide) family. G alpha (q) signalling events;Orexin and neuropeptides FF and QRFP bind to their respective receptors PE2 12 +NX_O15131 Importin subunit alpha-6 536 60349 5.07 0 Cytoplasm;Cytosol NA Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates nuclear import of STAT1 homodimers and STAT1/STAT2 heterodimers by recognizing non-classical NLSs of STAT1 and STAT2 through ARM repeats 8-9. Recognizes influenza A virus nucleoprotein through ARM repeat 7-9 In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS. NA Belongs to the importin alpha family. ISG15 antiviral mechanism;NS1 Mediated Effects on Host Pathways PE1 6 +NX_O15143 Actin-related protein 2/3 complex subunit 1B 372 40950 8.68 0 Cytoplasmic vesicle;Cytosol;Nucleus;Cytoskeleton Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:11741539, PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:11741539, PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947). NA Belongs to the WD repeat ARPC1 family. Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Pathogenic Escherichia coli infection;Shigellosis;Salmonella infection;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;EPHB-mediated forward signaling PE1 7 +NX_O15144 Actin-related protein 2/3 complex subunit 2 300 34333 6.84 0 Cytoplasm;Golgi apparatus;Synaptosome;Cell projection;Cytosol;Nucleus;Cytoskeleton NA Actin-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9230079). Seems to contact the mother actin filament (PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947). NA Belongs to the ARPC2 family. Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Pathogenic Escherichia coli infection;Shigellosis;Salmonella infection;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;EPHB-mediated forward signaling;Clathrin-mediated endocytosis PE1 2 +NX_O15145 Actin-related protein 2/3 complex subunit 3 178 20547 8.78 0 Cytoplasm;Cell projection;Nucleoplasm;Nucleus;Cytoskeleton NA Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947). NA Belongs to the ARPC3 family. Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Pathogenic Escherichia coli infection;Shigellosis;Salmonella infection;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;EPHB-mediated forward signaling;Clathrin-mediated endocytosis PE1 12 +NX_O15146 Muscle, skeletal receptor tyrosine-protein kinase 869 97056 6.96 1 Postsynaptic cell membrane Fetal akinesia deformation sequence 1;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle (PubMed:25537362). Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK. DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and memory formation (By similarity). Phosphorylated (By similarity). Phosphorylation is induced by AGRIN in a LRP4-dependent manner (By similarity). Autophosphorylated (PubMed:25029443). Autophosphorylation at Tyr-554 is required for interaction with DOK7 which in turn stimulates the phosphorylation and the activation of MUSK (By similarity).;Ubiquitinated by PDZRN3. Ubiquitination promotes endocytosis and lysosomal degradation (By similarity).;Neddylated. Belongs to the protein kinase superfamily. Tyr protein kinase family. ECM proteoglycans PE1 9 +NX_O15151 Protein Mdm4 490 54864 4.85 0 Nucleoplasm;Nucleus NA Inhibits p53/TP53- and TP73/p73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Inhibits degradation of MDM2. Can reverse MDM2-targeted degradation of TP53 while maintaining suppression of TP53 transactivation and apoptotic functions. Ubiquitinated and degraded by MDM2. Deubiquitination by USP2 on the other hand stabilizes the MDM4 protein.;Phosphorylated. Phosphorylation at Ser-367 promotes interaction with YWHAG and subsequent ubiquitination and degradation. Phosphorylation at Ser-342 also induces ubiquitination and degradation but to a lower extent.;MDM4 is phosphorylated by CHEK2 Belongs to the MDM2/MDM4 family. p53 signaling pathway;Oxidative Stress Induced Senescence;Oncogene Induced Senescence;Stabilization of p53;Regulation of TP53 Activity through Phosphorylation;Regulation of TP53 Degradation;Regulation of TP53 Activity through Methylation;Ub-specific processing proteases PE1 1 +NX_O15155 BET1 homolog 118 13289 9.14 1 cis-Golgi network membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane NA Required for vesicular transport from the ER to the Golgi complex. Functions as a SNARE involved in the docking process of ER-derived vesicles with the cis-Golgi membrane (By similarity). NA Belongs to the BET1 family. SNARE interactions in vesicular transport;COPII-mediated vesicle transport;COPI-mediated anterograde transport PE1 7 +NX_O15156 Zinc finger and BTB domain-containing protein 7B 539 58027 5.53 0 Nucleoplasm;Nucleus NA Transcription regulator that acts as a key regulator of lineage commitment of immature T-cell precursors. Exerts distinct biological functions in the mammary epithelial cells and T cells in a tissue-specific manner. Necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. Development of immature T-cell precursors (thymocytes) to either the CD4 helper or CD8 killer T-cell lineages correlates precisely with their T-cell receptor specificity for major histocompatibility complex class II or class I molecules, respectively. Cross-antagonism between ZBTB7B and CBF complexes are determinative to CD4 versus CD8 cell fate decision. Suppresses RUNX3 expression and imposes CD4+ lineage fate by inducing the SOCS suppressors of cytokine signaling. Induces, as a transcriptional activator, SOCS genes expression which represses RUNX3 expression and promotes the CD4+ lineage fate. During CD4 lineage commitment, associates with multiple sites at the CD8 locus, acting as a negative regulator of the CD8 promoter and enhancers by epigenetic silencing through the recruitment of class II histone deacetylases, such as HDAC4 and HDAC5, to these loci. Regulates the development of IL17-producing CD1d-restricted naural killer (NK) T cells. Also functions as an important metabolic regulator in the lactating mammary glands. Critical feed-forward regulator of insulin signaling in mammary gland lactation, directly regulates expression of insulin receptor substrate-1 (IRS-1) and insulin-induced Akt-mTOR-SREBP signaling (By similarity). Transcriptional repressor of the collagen COL1A1 and COL1A2 genes. May also function as a repressor of fibronectin and possibly other extracellular matrix genes (PubMed:9370309). Potent driver of brown fat development, thermogenesis and cold-induced beige fat formation. Recruits the brown fat lncRNA 1 (Blnc1):HNRNPU ribonucleoprotein complex to activate thermogenic gene expression in brown and beige adipocytes (By similarity). Acetylated directly and specifically by EP300 (PubMed:20810990). EP300-mediated acetylation of Lys-206, Lys-212 and Lys-335 stabilizes the protein by antagonizing ubiquitin conjugation (By similarity).;Ubiquitinated, leading to proteasomal degradation (PubMed:20810990). Competes with acetylation on Lys-206, Lys-212 and Lys-335 (By similarity). NA NA PE1 1 +NX_O15160 DNA-directed RNA polymerases I and III subunit RPAC1 346 39250 5.31 0 Nucleoplasm;Nucleus Leukodystrophy, hypomyelinating, 11;Treacher Collins syndrome 3 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity). NA Belongs to the archaeal RpoD/eukaryotic RPB3 RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Cytosolic DNA-sensing pathway;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;Cytosolic sensors of pathogen-associated DNA;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter;B-WICH complex positively regulates rRNA expression PE1 6 +NX_O15162 Phospholipid scramblase 1 318 35049 4.83 1 Golgi apparatus;Cytoplasm;Cell membrane;Membrane;Nucleoplasm;Perinuclear region;Nucleus NA May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system.;May play a role in the antiviral response of interferon (IFN) by amplifying and enhancing the IFN response through increased expression of select subset of potent antiviral genes. May contribute to cytokine-regulated cell proliferation and differentiation. Phosphorylated by OXSR1 in the presence of RELT. Belongs to the phospholipid scramblase family. NA PE1 3 +NX_O15164 Transcription intermediary factor 1-alpha 1050 116831 6.73 0 Cytoplasm;Nucleoplasm;Nucleus NA Transcriptional coactivator that interacts with numerous nuclear receptors and coactivators and modulates the transcription of target genes. Interacts with chromatin depending on histone H3 modifications, having the highest affinity for histone H3 that is both unmodified at 'Lys-4' (H3K4me0) and acetylated at 'Lys-23' (H3K23ac). Has E3 protein-ubiquitin ligase activity. Promotes ubiquitination and proteasomal degradation of p53/TP53. Plays a role in the regulation of cell proliferation and apoptosis, at least in part via its effects on p53/TP53 levels. Up-regulates ligand-dependent transcription activation by AR, GCR/NR3C1, thyroid hormone receptor (TR) and ESR1. Modulates transcription activation by retinoic acid (RA) receptors, including RARA. Plays a role in regulating retinoic acid-dependent proliferation of hepatocytes (By similarity). Sumoylated. NA Protein modification; protein ubiquitination.;Signaling by FGFR1 in disease;Signaling by cytosolic FGFR1 fusion mutants;Signaling by BRAF and RAF fusions PE1 7 +NX_O15165 Low-density lipoprotein receptor class A domain-containing protein 4 306 33900 5.86 1 Early endosome membrane;Cytoplasmic vesicle NA Functions as a negative regulator of TGF-beta signaling and thereby probably plays a role in cell proliferation, differentiation, apoptosis, motility, extracellular matrix production and immunosuppression. In the canonical TGF-beta pathway, ZFYVE9/SARA recruits the intracellular signal transducer and transcriptional modulators SMAD2 and SMAD3 to the TGF-beta receptor. Phosphorylated by the receptor, SMAD2 and SMAD3 then form a heteromeric complex with SMAD4 that translocates to the nucleus to regulate transcription. Through interaction with SMAD2 and SMAD3, LDLRAD4 may compete with ZFYVE9 and SMAD4 and prevent propagation of the intracellular signal. NA Belongs to the PMEPA1 family. NA PE1 18 +NX_O15169 Axin-1 862 95635 6.5 0 Cytoplasm;Cell membrane;Nucleolus;Membrane;Cytoplasmic vesicle;Nucleus Hepatocellular carcinoma;Caudal duplication anomaly Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through phosphorylation and ubiquitination, and modulating Wnt-signaling (PubMed:12192039, PubMed:27098453). Controls dorsoventral patterning via two opposing effects; down-regulates CTNNB1 to inhibit the Wnt signaling pathway and ventralize embryos, but also dorsalizes embryos by activating a Wnt-independent JNK signaling pathway (PubMed:12192039). In Wnt signaling, probably facilitates the phosphorylation of CTNNB1 and APC by GSK3B (PubMed:12192039). Likely to function as a tumor suppressor. Enhances TGF-beta signaling by recruiting the RNF111 E3 ubiquitin ligase and promoting the degradation of inhibitory SMAD7 (PubMed:16601693). Also component of the AXIN1-HIPK2-TP53 complex which controls cell growth, apoptosis and development (PubMed:17210684). Facilitates the phosphorylation of TP53 by HIPK2 upon ultraviolet irradiation (PubMed:17210684). Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation and subsequent activation of the Wnt signaling pathway. Sumoylation at Lys-857 and Lys-860 prevents ubiquitination and degradation. Sumoylation is required for AXIN1-mediated JNK activation. Deubiquitinated by USP34, deubiquitinated downstream of beta-catenin stabilization step: deubiquitination is important for nuclear accumulation during Wnt signaling to positively regulate beta-catenin (CTNBB1)-mediated transcription.;Phosphorylation and dephosphorylation of AXIN1 regulates assembly and function of the beta-catenin complex. Phosphorylated by CK1 and GSK3B. Dephosphorylated by PPP1CA and PPP2CA. Phosphorylation by CK1 enhances binding of GSK3B to AXIN1.;ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP-ribosylated protein is recognized by RNF146, followed by ubiquitination at 'Lys-48' and subsequent activation of the Wnt signaling pathway. NA Wnt signaling pathway;Pathways in cancer;Colorectal cancer;Endometrial cancer;Basal cell carcinoma;Degradation of beta-catenin by the destruction complex;Degradation of AXIN;TCF dependent signaling in response to WNT;Disassembly of the destruction complex and recruitment of AXIN to the membrane;Beta-catenin phosphorylation cascade;Misspliced GSK3beta mutants stabilize beta-catenin;S33 mutants of beta-catenin aren't phosphorylated;S37 mutants of beta-catenin aren't phosphorylated;S45 mutants of beta-catenin aren't phosphorylated;T41 mutants of beta-catenin aren't phosphorylated;APC truncation mutants have impaired AXIN binding;AXIN missense mutants destabilize the destruction complex;Truncations of AMER1 destabilize the destruction complex;Ub-specific processing proteases;RUNX1 regulates estrogen receptor mediated transcription;RUNX1 regulates transcription of genes involved in WNT signaling;Estrogen-dependent gene expression PE1 16 +NX_O15172 Putative phosphoserine phosphatase-like protein 72 7804 6.02 0 NA NA NA NA Belongs to the HAD-like hydrolase superfamily. SerB family. NA PE5 7 +NX_O15173 Membrane-associated progesterone receptor component 2 223 23818 4.76 1 Membrane;Cytosol;Nucleus;Cell membrane NA Receptor for steroids. NA Belongs to the cytochrome b5 family. MAPR subfamily. NA PE1 4 +NX_O15178 T-box transcription factor T 435 47443 6.62 0 Nucleoplasm;Nucleus Neural tube defects;Chordoma;Sacral agenesis with vertebral anomalies Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic site (called T site) and activates gene transcription when bound to such a site. NA NA NA PE1 6 +NX_O15182 Centrin-3 167 19550 4.62 0 Centriole;Nuclear pore complex;Nucleolus;Centrosome;Nucleus envelope NA Plays a fundamental role in microtubule-organizing center structure and function.;As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores. NA Belongs to the centrin family. NA PE1 5 +NX_O15194 CTD small phosphatase-like protein 276 31129 5.32 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells (By similarity). Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation. NA NA NA PE1 3 +NX_O15195 Villin-like protein 856 95907 6.55 0 NA NA Possible tumor suppressor. NA Belongs to the villin/gelsolin family. NA PE1 3 +NX_O15197 Ephrin type-B receptor 6 1021 110700 6.19 1 Membrane;Nucleus speckle;Secreted NA Kinase-defective receptor for members of the ephrin-B family. Binds to ephrin-B1 and ephrin-B2. Modulates cell adhesion and migration by exerting both positive and negative effects upon stimulation with ephrin-B2. Inhibits JNK activation, T-cell receptor-induced IL-2 secretion and CD25 expression upon stimulation with ephrin-B2. Ligand-binding increases phosphorylation on tyrosine residues. Phosphorylation on tyrosine residues is mediated by transphosphorylation by the catalytically active EPHB1 in a ligand-independent manner. Tyrosine phosphorylation of the receptor may act as a switch on the functional transition from cell adhesion/attraction to de-adhesion/repulsion. Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. Axon guidance;EPH-Ephrin signaling;EPHB-mediated forward signaling;Ephrin signaling;EPH-ephrin mediated repulsion of cells PE1 7 +NX_O15198 Mothers against decapentaplegic homolog 9 467 52493 7.87 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus Pulmonary hypertension, primary, 2 Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD). Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase. Belongs to the dwarfin/SMAD family. TGF-beta signaling pathway;Signaling by BMP PE1 13 +NX_O15204 ADAM DEC1 470 52775 7.01 0 Secreted NA May play an important role in the control of the immune response and during pregnancy. NA NA NA PE1 8 +NX_O15205 Ubiquitin D 165 18473 9.08 0 Nucleoplasm;Nucleus;Cytoplasm;Nucleolus NA Ubiquitin-like protein modifier which can be covalently attached to target protein and subsequently leads to their degradation by the 26S proteasome, in a NUB1-dependent manner. Probably functions as a survival factor. Conjugation ability activated by UBA6. Promotes the expression of the proteasome subunit beta type-9 (PSMB9/LMP2). Regulates TNF-alpha-induced and LPS-mediated activation of the central mediator of innate immunity NF-kappa-B by promoting TNF-alpha-mediated proteasomal degradation of ubiquitinated-I-kappa-B-alpha. Required for TNF-alpha-induced p65 nuclear translocation in renal tubular epithelial cells (RTECs). May be involved in dendritic cell (DC) maturation, the process by which immature dendritic cells differentiate into fully competent antigen-presenting cells that initiate T-cell responses. Mediates mitotic non-disjunction and chromosome instability, in long-term in vitro culture and cancers, by abbreviating mitotic phase and impairing the kinetochore localization of MAD2L1 during the prometaphase stage of the cell cycle. May be involved in the formation of aggresomes when proteasome is saturated or impaired. Mediates apoptosis in a caspase-dependent manner, especially in renal epithelium and tubular cells during renal diseases such as polycystic kidney disease and Human immunodeficiency virus (HIV)-associated nephropathy (HIVAN). Can be acetylated. NA Neddylation PE1 6 +NX_O15209 Zinc finger and BTB domain-containing protein 22 634 65602 5.93 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 6 +NX_O15211 Ral guanine nucleotide dissociation stimulator-like 2 777 83549 5.82 0 Nucleoplasm NA Probable guanine nucleotide exchange factor. Putative effector of Ras and/or Rap. Associates with the GTP-bound form of Rap 1A and H-Ras in vitro (By similarity). NA NA NA PE1 6 +NX_O15212 Prefoldin subunit 6 129 14583 8.83 0 Golgi apparatus;Nucleoplasm NA Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins. NA Belongs to the prefoldin subunit beta family. Prefoldin mediated transfer of substrate to CCT/TriC PE1 6 +NX_O15213 WD repeat-containing protein 46 610 68071 9.69 0 Nucleolus NA Scaffold component of the nucleolar structure. Required for localization of DDX21 and NCL to the granular compartment of the nucleolus. NA NA rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 6 +NX_O15217 Glutathione S-transferase A4 222 25704 7.89 0 Cytoplasm NA Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. This isozyme has a high catalytic efficiency with 4-hydroxyalkenals such as 4-hydroxynonenal (4-HNE). NA Belongs to the GST superfamily. Alpha family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Glutathione conjugation PE1 6 +NX_O15218 G-protein coupled receptor 182 404 45323 7.28 7 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 12 +NX_O15225 Putative inactivation escape 1 protein 51 5365 7 0 NA NA NA NA NA NA PE5 X +NX_O15226 NF-kappa-B-repressing factor 690 77673 8.94 0 Nucleoplasm;Nucleolus NA Interacts with a specific negative regulatory element (NRE) 5'-AATTCCTCTGA-3' to mediate transcriptional repression of certain NK-kappa-B responsive genes. Involved in the constitutive silencing of the interferon beta promoter, independently of the virus-induced signals, and in the inhibition of the basal and cytokine-induced iNOS promoter activity. Also involved in the regulation of IL-8 transcription. NA NA NA PE1 X +NX_O15228 Dihydroxyacetone phosphate acyltransferase 680 77188 6.16 0 Peroxisome membrane Rhizomelic chondrodysplasia punctata 2 NA NA Belongs to the GPAT/DAPAT family. Membrane lipid metabolism; glycerophospholipid metabolism.;Glycerophospholipid metabolism;Peroxisome;Synthesis of PA;Plasmalogen biosynthesis;Peroxisomal protein import PE1 1 +NX_O15229 Kynurenine 3-monooxygenase 486 55810 9.18 2 Mitochondrion outer membrane NA Catalyzes the hydroxylation of L-kynurenine (L-Kyn) to form 3-hydroxy-L-kynurenine (L-3OHKyn) (PubMed:29429898, PubMed:23575632, PubMed:26752518, PubMed:28604669, PubMed:29208702). Required for synthesis of quinolinic acid, a neurotoxic NMDA receptor antagonist and potential endogenous inhibitor of NMDA receptor signaling in axonal targeting, synaptogenesis and apoptosis during brain development. Quinolinic acid may also affect NMDA receptor signaling in pancreatic beta cells, osteoblasts, myocardial cells, and the gastrointestinal tract (Probable). NA Belongs to the aromatic-ring hydroxylase family. KMO subfamily. Cofactor biosynthesis; NAD(+) biosynthesis; quinolinate from L-kynurenine: step 1/3.;Tryptophan metabolism;Metabolic pathways;Tryptophan catabolism PE1 1 +NX_O15230 Laminin subunit alpha-5 3695 399737 6.66 0 Nucleoplasm;Cytoplasmic vesicle;Basement membrane NA Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. NA NA Focal adhesion;ECM-receptor interaction;Toxoplasmosis;Amoebiasis;Pathways in cancer;Small cell lung cancer;Degradation of the extracellular matrix;ECM proteoglycans;Non-integrin membrane-ECM interactions;Laminin interactions;MET activates PTK2 signaling;Interleukin-4 and Interleukin-13 signaling PE1 20 +NX_O15231 Zinc finger protein 185 689 73525 6.68 0 Focal adhesion;Cytoskeleton NA May be involved in the regulation of cellular proliferation and/or differentiation. NA NA NA PE1 X +NX_O15232 Matrilin-3 486 52817 6.25 0 Golgi apparatus;Endoplasmic reticulum;Secreted Osteoarthritis 2;Multiple epiphyseal dysplasia 5;Spondyloepimetaphyseal dysplasia MATN3-related Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks. NA NA ECM proteoglycans;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 2 +NX_O15234 Protein CASC3 703 76278 6.05 0 Cytoplasm;Stress granule;Nucleus speckle;Perinuclear region;Nucleus membrane;Cytoplasmic ribonucleoprotein granule;Dendrite;Nucleus NA Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:29301961). Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Stimulates the ATPase and RNA-helicase activities of EIF4A3. Plays a role in the stress response by participating in cytoplasmic stress granules assembly and by favoring cell recovery following stress. Component of the dendritic ribonucleoprotein particles (RNPs) in hippocampal neurons. May play a role in mRNA transport. Binds spliced mRNA in sequence-independent manner, 20-24 nucleotides upstream of mRNA exon-exon junctions. Binds poly(G) and poly(U) RNA homopolymer. Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation.;ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP-ribosylated protein is recognized by RNF146, followed by ubiquitination. Belongs to the CASC3 family. RNA transport;mRNA surveillance pathway;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Regulation of expression of SLITs and ROBOs;RNA Polymerase II Transcription Termination PE1 17 +NX_O15235 28S ribosomal protein S12, mitochondrial 138 15173 10.31 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uS12 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 19 +NX_O15239 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 70 8072 8.93 1 Cytosol;Mitochondrion inner membrane;Mitochondrion Mitochondrial complex I deficiency, nuclear type 12 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFA1 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 X +NX_O15240 Neurosecretory protein VGF 615 67258 4.76 0 Golgi apparatus;Cytoplasmic vesicle;Secreted;Secretory vesicle NA VGF-derived peptide TLQP-62: Plays a role in the regulation of memory formation and depression-related behaviors potentially by influencing synaptic plasticity and neurogenesis. Induces acute and transient activation of the NTRK2/TRKB receptor and subsequent CREB phosphorylation (By similarity). Induces also insulin secretion in insulinoma cells by increasing intracellular calcium mobilization (By similarity).;Neuroendocrine regulatory peptide-1: Plays a role in the control of body fluid homeostasis by regulating vasopressin release. Suppresses presynaptic glutamatergic neurons connected to vasopressin neurons.;Antimicrobial peptide VGF[554-577]: Has bactericidal activity against M. Luteus, and antifungal activity against P. Pastoris.;Neurosecretory protein VGF: Secreted polyprotein that is packaged and proteolytically processed by prohormone convertases PCSK1 and PCSK2 in a cell-type-specific manner (By similarity). VGF and peptides derived from its processing play many roles in neurogenesis and neuroplasticity associated with learning, memory, depression and chronic pain (By similarity).;Neuroendocrine regulatory peptide-2: Plays a role in the control of body fluid homeostasis by regulating vasopressin release. Activates GABAergic interneurons which are inhibitory neurons of the nervous system and thereby suppresses presynaptic glutamatergic neurons (By similarity). Stimulates also feeding behavior in an orexin-dependent manner in the hypothalamus (By similarity). Functions as a positive regulator for the activation of orexin neurons resulting in elevated gastric acid secretion and gastric emptying (By similarity).;VGF-derived peptide TLQP-21: Secreted multifunctional neuropeptide that binds to different cell receptors and thereby plays multiple physiological roles including modulation of energy expenditure, pain, response to stress, gastric regulation, glucose homeostasis as well as lipolysis (By similarity). Activates the G-protein-coupled receptor C3AR1 via a folding-upon-binding mechanism leading to enhanced lipolysis in adipocytes (By similarity). Interacts with C1QBP receptor in macrophages and microglia causing increased levels of intracellular calcium and hypersensitivity (By similarity). Multiple peptides are derived from VGF, with activities in synaptic plasticity, antidepression, penile erection, autonomic activation, and increases in energy expenditure. NA Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 7 +NX_O15243 Leptin receptor gene-related protein 131 14254 6.01 4 Golgi apparatus membrane;Centrosome;Endosome membrane NA Negatively regulates leptin receptor (LEPR) cell surface expression, and thus decreases response to leptin. Negatively regulates growth hormone (GH) receptor cell surface expression in liver. May play a role in liver resistance to GH during periods of reduced nutrient availability. NA Belongs to the OB-RGRP/VPS55 family. NA PE1 1 +NX_O15244 Solute carrier family 22 member 2 555 62581 8.68 12 Membrane NA Mediates tubular uptake of organic compounds from circulation. Mediates the influx of agmatine, dopamine, noradrenaline (norepinephrine), serotonin, choline, famotidine, ranitidine, histamine, creatinine, amantadine, memantine, acriflavine, 4-[4-(dimethylamino)-styryl]-N-methylpyridinium ASP, amiloride, metformin, N-1-methylnicotinamide (NMN), tetraethylammonium (TEA), 1-methyl-4-phenylpyridinium (MPP), cimetidine, cisplatin and oxaliplatin. Cisplatin may develop a nephrotoxic action. Transport of creatinine is inhibited by fluoroquinolones such as DX-619 and LVFX. This transporter is a major determinant of the anticancer activity of oxaliplatin and may contribute to antitumor specificity. NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. Na+/Cl- dependent neurotransmitter transporters;Abacavir transmembrane transport;Organic cation transport;Neurotransmitter clearance;Norepinephrine Neurotransmitter Release Cycle PE1 6 +NX_O15245 Solute carrier family 22 member 1 554 61154 6.4 12 Basolateral cell membrane NA Translocates a broad array of organic cations with various structures and molecular weights including the model compounds 1-methyl-4-phenylpyridinium (MPP), tetraethylammonium (TEA), N-1-methylnicotinamide (NMN), 4-(4-(dimethylamino)styryl)-N-methylpyridinium (ASP), the endogenous compounds choline, guanidine, histamine, epinephrine, adrenaline, noradrenaline and dopamine, and the drugs quinine, and metformin. The transport of organic cations is inhibited by a broad array of compounds like tetramethylammonium (TMA), cocaine, lidocaine, NMDA receptor antagonists, atropine, prazosin, cimetidine, TEA and NMN, guanidine, cimetidine, choline, procainamide, quinine, tetrabutylammonium, and tetrapentylammonium. Translocates organic cations in an electrogenic and pH-independent manner. Translocates organic cations across the plasma membrane in both directions. Transports the polyamines spermine and spermidine. Transports pramipexole across the basolateral membrane of the proximal tubular epithelial cells. The choline transport is activated by MMTS. Regulated by various intracellular signaling pathways including inhibition by protein kinase A activation, and endogenously activation by the calmodulin complex, the calmodulin-dependent kinase II and LCK tyrosine kinase. Phosphorylated. Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. Bile secretion;Na+/Cl- dependent neurotransmitter transporters;Abacavir transmembrane transport;Organic cation transport;Neurotransmitter clearance;Norepinephrine Neurotransmitter Release Cycle PE1 6 +NX_O15247 Chloride intracellular channel protein 2 247 28356 5.44 1 Cytoplasm;Cell membrane;Membrane;Nucleoplasm;Nucleus Mental retardation, X-linked, syndromic, 32 Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Modulates the activity of RYR2 and inhibits calcium influx. NA Belongs to the chloride channel CLIC family. Stimuli-sensing channels;Ion homeostasis PE1 X +NX_O15254 Peroxisomal acyl-coenzyme A oxidase 3 700 77629 6.84 0 Peroxisome NA Oxidizes the CoA-esters of 2-methyl-branched fatty acids. NA Belongs to the acyl-CoA oxidase family. Lipid metabolism; peroxisomal fatty acid beta-oxidation.;Fatty acid metabolism;alpha-Linolenic acid metabolism;Biosynthesis of unsaturated fatty acids;Metabolic pathways;PPAR signaling pathway;Peroxisome;Beta-oxidation of pristanoyl-CoA;Peroxisomal protein import PE1 4 +NX_O15255 CAAX box protein 1 209 22278 8.56 0 Cell membrane NA NA NA NA NA PE2 X +NX_O15258 Protein RER1 196 22958 9.56 3 Golgi apparatus;Golgi apparatus membrane NA Involved in the retrieval of endoplasmic reticulum membrane proteins from the early Golgi compartment. NA Belongs to the RER1 family. NA PE1 1 +NX_O15259 Nephrocystin-1 732 83299 5.11 0 Adherens junction;Cell junction;Cilium;Tight junction;Cilium axoneme;Cytoplasmic vesicle Nephronophthisis 1;Senior-Loken syndrome 1;Joubert syndrome 4 Together with BCAR1 it may play a role in the control of epithelial cell polarity (By similarity). Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling (By similarity). May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development (By similarity). In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis (By similarity). Phosphorylation by CK2 is required for the interaction with PACS1 and the targeting to the base region of cilia. Belongs to the nephrocystin-1 family. Anchoring of the basal body to the plasma membrane PE1 2 +NX_O15260 Surfeit locus protein 4 269 30394 7.64 5 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane NA May play a role in the maintenance of the architecture of the endoplasmic reticulum-Golgi intermediate compartment and of the Golgi. NA Belongs to the SURF4 family. COPI-dependent Golgi-to-ER retrograde traffic;Neutrophil degranulation PE1 9 +NX_O15263 Beta-defensin 4A 64 7038 9.46 0 Secreted NA Exhibits antimicrobial activity against Gram-negative bacteria and Gram-positive bacteria. May act as a ligand for C-C chemokine receptor CCR6. Can bind to both human and mouse CCR6 and induce chemotactic activity of CCR6-expressing cells (PubMed:20068036). NA Belongs to the beta-defensin family. LAP/TAP subfamily. Beta defensins;Defensins PE1 8 +NX_O15264 Mitogen-activated protein kinase 13 365 42090 8.48 0 Nucleoplasm;Cytosol;Nucleolus NA Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK13 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. MAPK13 is one of the less studied p38 MAPK isoforms. Some of the targets are downstream kinases such as MAPKAPK2, which are activated through phosphorylation and further phosphorylate additional targets. Plays a role in the regulation of protein translation by phosphorylating and inactivating EEF2K. Involved in cytoskeletal remodeling through phosphorylation of MAPT and STMN1. Mediates UV irradiation induced up-regulation of the gene expression of CXCL14. Plays an important role in the regulation of epidermal keratinocyte differentiation, apoptosis and skin tumor development. Phosphorylates the transcriptional activator MYB in response to stress which leads to rapid MYB degradation via a proteasome-dependent pathway. MAPK13 also phosphorylates and down-regulates PRKD1 during regulation of insulin secretion in pancreatic beta cells. Dually phosphorylated on Thr-180 and Tyr-182 by MAP2K3/MKK3, MAP2K4/MKK4, MAP2K6/MKK6 and MAP2K7/MKK7, which activates the enzyme. Dephosphorylated by dual specificity phosphatase DUSP1.;MAPK13 is phosphorylated by MAP2K7 Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. MAPK signaling pathway;VEGF signaling pathway;Osteoclast differentiation;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;T cell receptor signaling pathway;Fc epsilon RI signaling pathway;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Dopaminergic synapse;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Amyotrophic lateral sclerosis (ALS);Epithelial cell signaling in Helicobacter pylori infection;Shigellosis;Salmonella infection;Pertussis;Leishmaniasis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Tuberculosis;Hepatitis C;Influenza A;DSCAM interactions;NOD1/2 Signaling Pathway;VEGFA-VEGFR2 Pathway;p38MAPK events PE1 6 +NX_O15265 Ataxin-7 892 95451 9.89 0 Cytoplasm;Nucleus matrix;Nucleolus;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton Spinocerebellar ataxia 7 Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton stabilization. Sumoylation decreases the aggregation propensity and cellular toxicity of forms with an expanded poly-Gln region but has no effect on subcellular location or interaction with components of the STAGA complex.;Proteolytically cleaved. The cleavage may be involved in SCA7 degeneration: the isoform fragments may exert distinct toxic influences that could contribute to selective neurodegeneration. Belongs to the ataxin-7 family. HATs acetylate histones;Ub-specific processing proteases PE1 3 +NX_O15266 Short stature homeobox protein 292 32236 7.23 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle Langer mesomelic dysplasia;Short stature, idiopathic, X-linked;Leri-Weill dyschondrosteosis Controls fundamental aspects of growth and development. NA Belongs to the paired homeobox family. Bicoid subfamily. NA PE1 X +NX_O15269 Serine palmitoyltransferase 1 473 52744 5.72 1 Endoplasmic reticulum;Endoplasmic reticulum membrane Neuropathy, hereditary sensory and autonomic, 1A Serine palmitoyltransferase (SPT) (PubMed:19416851). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core (PubMed:19416851). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference (PubMed:19416851). The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA (PubMed:19416851). The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference (PubMed:19416851). Required for adipocyte cell viability and metabolic homeostasis (By similarity). Phosphorylation at Tyr-164 inhibits activity and promotes cell survival. Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. Lipid metabolism; sphingolipid metabolism.;Sphingolipid metabolism;Metabolic pathways;Sphingolipid de novo biosynthesis PE1 9 +NX_O15270 Serine palmitoyltransferase 2 562 62924 7.89 1 Endoplasmic reticulum membrane;Mitochondrion Neuropathy, hereditary sensory and autonomic, 1C Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate. Plays an important role in de novo sphyngolipid biosynthesis which is crucial for adipogenesis (By similarity). NA Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. Lipid metabolism; sphingolipid metabolism.;Sphingolipid metabolism;Metabolic pathways;Sphingolipid de novo biosynthesis PE1 14 +NX_O15273 Telethonin 167 19052 5.2 0 Sarcomere Muscular dystrophy, limb-girdle, autosomal recessive 7;Cardiomyopathy, familial hypertrophic 25 Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk. NA NA Striated Muscle Contraction PE1 17 +NX_O15287 Fanconi anemia group G protein 622 68554 5.32 0 Cytoplasm;Cell membrane;Nucleolus;Cytosol;Nucleus Fanconi anemia complementation group G DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene. NA NA Fanconi anemia pathway;Fanconi Anemia Pathway PE1 9 +NX_O15294 UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit 1046 116925 6.22 0 Cytoplasm;Mitochondrion;Cell membrane;Cell projection;Membrane;Nucleoplasm;Mitochondrion membrane;Nucleus Mental retardation, X-linked 106 The mitochondrial isoform (mOGT) is cytotoxic and triggers apoptosis in several cell types including INS1, an insulinoma cell line.;Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in cytoplasmic and nuclear proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc) (PubMed:26678539, PubMed:23103939, PubMed:21240259, PubMed:21285374, PubMed:15361863). Glycosylates a large and diverse number of proteins including histone H2B, AKT1, EZH2, PFKL, KMT2E/MLL5, MAPT/TAU and HCFC1. Can regulate their cellular processes via cross-talk between glycosylation and phosphorylation or by affecting proteolytic processing (PubMed:21285374). Probably by glycosylating KMT2E/MLL5, stabilizes KMT2E/MLL5 by preventing its ubiquitination (PubMed:26678539). Involved in insulin resistance in muscle and adipocyte cells via glycosylating insulin signaling components and inhibiting the 'Thr-308' phosphorylation of AKT1, enhancing IRS1 phosphorylation and attenuating insulin signaling (By similarity). Involved in glycolysis regulation by mediating glycosylation of 6-phosphofructokinase PFKL, inhibiting its activity (PubMed:22923583). Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. Plays a key role in chromatin structure by mediating O-GlcNAcylation of 'Ser-112' of histone H2B: recruited to CpG-rich transcription start sites of active genes via its interaction with TET proteins (TET1, TET2 or TET3) (PubMed:22121020, PubMed:23353889). As part of the NSL complex indirectly involved in acetylation of nucleosomal histone H4 on several lysine residues (PubMed:20018852). O-GlcNAcylation of 'Ser-75' of EZH2 increases its stability, and facilitating the formation of H3K27me3 by the PRC2/EED-EZH2 complex (PubMed:24474760). Regulates circadian oscillation of the clock genes and glucose homeostasis in the liver. Stabilizes clock proteins ARNTL/BMAL1 and CLOCK through O-glycosylation, which prevents their ubiquitination and subsequent degradation. Promotes the CLOCK-ARNTL/BMAL1-mediated transcription of genes in the negative loop of the circadian clock such as PER1/2 and CRY1/2 (PubMed:12150998, PubMed:19451179, PubMed:20018868, PubMed:20200153, PubMed:21285374, PubMed:15361863). O-glycosylates HCFC1 and regulates its proteolytic processing and transcriptional activity (PubMed:21285374, PubMed:28584052, PubMed:28302723). Regulates mitochondrial motility in neurons by mediating glycosylation of TRAK1 (By similarity). Glycosylates HOXA1 (By similarity). Phosphorylation on Ser-3 or Ser-4 by GSK3-beta positively regulates its activity.;Ubiquitinated, leading to its proteasomal degradation. Belongs to the glycosyltransferase 41 family. O-GlcNAc transferase subfamily. Protein modification; protein glycosylation.;Other types of O-glycan biosynthesis;HATs acetylate histones;UCH proteinases PE1 X +NX_O15296 Arachidonate 15-lipoxygenase B 676 75857 5.73 0 Cell membrane;Membrane;Cytosol;Nucleus;Cytoskeleton NA Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Converts arachidonic acid to 15S-hydroperoxyeicosatetraenoic acid/(15S)-HPETE. Also acts on linoleic acid to produce 13-hydroxyoctadecadienoic acid/13-HPODE. Has no detectable 8S-lipoxygenase activity but reacts with (8S)-HPETE to produce (8S,15S)-diHPETE. May regulate progression through the cell cycle and cell proliferation. May also regulate cytokine secretion by macrophages and therefore play a role in the immune response. May also regulate macrophage differentiation into proatherogenic foam cells. NA Belongs to the lipoxygenase family. Lipid metabolism; hydroperoxy eicosatetraenoic acid biosynthesis.;Arachidonic acid metabolism;Metabolic pathways;Synthesis of 15-eicosatetraenoic acid derivatives PE1 17 +NX_O15297 Protein phosphatase 1D 605 66675 9.14 0 Endoplasmic reticulum;Cytosol;Nucleus Breast cancer;Ovarian cancer;Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold Involved in the negative regulation of p53 expression (PubMed:23242139). Required for the relief of p53-dependent checkpoint mediated cell cycle arrest. Binds to and dephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 which contributes to the functional inactivation of these proteins (PubMed:15870257, PubMed:16311512). Mediates MAPK14 dephosphorylation and inactivation (PubMed:21283629). Is also an important regulator of global heterochromatin silencing and critical in maintaining genome integrity (By similarity). NA Belongs to the PP2C family. p53 signaling pathway;Transcriptional regulation by RUNX2 PE1 17 +NX_O15303 Metabotropic glutamate receptor 6 877 95468 8.34 7 Endoplasmic reticulum membrane;Golgi apparatus membrane;Dendrite;Cell membrane Night blindness, congenital stationary, 1B G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity (By similarity). Signaling stimulates TRPM1 channel activity and Ca(2+) uptake. Required for normal vision. NA Belongs to the G-protein coupled receptor 3 family. Neuroactive ligand-receptor interaction;Glutamatergic synapse;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 5 +NX_O15304 Apoptosis regulatory protein Siva 175 18695 7.86 0 Cytoplasm;Nucleoplasm;Nucleus NA Induces CD27-mediated apoptosis. Inhibits BCL2L1 isoform Bcl-x(L) anti-apoptotic activity. Inhibits activation of NF-kappa-B and promotes T-cell receptor-mediated apoptosis. Phosphorylated by ABL2/ARG in response to oxidative stress. NA NA PE1 14 +NX_O15305 Phosphomannomutase 2 246 28082 6.35 0 Nucleoplasm;Cytosol;Cytoplasm Congenital disorder of glycosylation 1A Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. NA Belongs to the eukaryotic PMM family. Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 2/2.;Fructose and mannose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Synthesis of GDP-mannose;Defective PMM2 causes PMM2-CDG (CDG-1a) PE1 16 +NX_O15315 DNA repair protein RAD51 homolog 2 384 42196 5.49 0 Nucleoplasm;Nucleus NA Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. May promote the assembly of presynaptic RAD51 nucleoprotein filaments. Binds single-stranded DNA and double-stranded DNA and has DNA-dependent ATPase activity. Part of the RAD21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway. Phosphorylated on tyrosine residues by BCR-ABL. Belongs to the RecA family. RAD51 subfamily. Homologous recombination;Factors involved in megakaryocyte development and platelet production;HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Presynaptic phase of homologous DNA pairing and strand exchange PE1 14 +NX_O15318 DNA-directed RNA polymerase III subunit RPC7 223 25914 4.53 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs (PubMed:20154270). May direct with other members of the RPC3/POLR3C-RPC6/POLR3F-RPC7/POLR3G subcomplex RNA Pol III binding to the TFIIIB-DNA complex via the interactions between TFIIIB and POLR3F. May be involved either in the recruitment and stabilization of the subcomplex within RNA polymerase III, or in stimulating catalytic functions of other subunits during initiation. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs), induce type I interferon and NF- Kappa-B through the RIG-I pathway (PubMed:19609254, PubMed:19631370). NA Belongs to the eukaryotic RPC7 RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Cytosolic DNA-sensing pathway;Cytosolic sensors of pathogen-associated DNA;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter PE1 5 +NX_O15321 Transmembrane 9 superfamily member 1 606 68861 6.7 9 Autophagosome membrane;Golgi apparatus;Lysosome membrane NA Plays an essential role in autophagy. NA Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family. NA PE1 14 +NX_O15327 Inositol polyphosphate 4-phosphatase type II 924 104738 5.87 0 Cytoplasm;Centrosome NA Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate and inositol 3,4-trisphosphate (PubMed:24070612, PubMed:24591580). Plays a role in the late stages of macropinocytosis by dephosphorylating phosphatidylinositol 3,4-bisphosphate in membrane ruffles (PubMed:24591580). The lipid phosphatase activity is critical for tumor suppressor function. Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival (PubMed:19647222, PubMed:24070612). NA Belongs to the inositol 3,4-bisphosphate 4-phosphatase family. Signal transduction; phosphatidylinositol signaling pathway.;Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PIPs at the plasma membrane;Synthesis of PIPs at the early endosome membrane;Synthesis of IP2, IP, and Ins in the cytosol PE1 4 +NX_O15335 Chondroadherin 359 40476 9.49 0 Extracellular matrix NA Promotes attachment of chondrocytes, fibroblasts, and osteoblasts. This binding is mediated (at least for chondrocytes and fibroblasts) by the integrin alpha(2)beta(1). May play an important role in the regulation of chondrocyte growth and proliferation (By similarity). NA Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class IV subfamily. Focal adhesion;ECM-receptor interaction PE1 17 +NX_O15342 V-type proton ATPase subunit e 1 81 9374 8.96 2 Membrane NA Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. NA Belongs to the V-ATPase e1/e2 subunit family. Oxidative phosphorylation;Metabolic pathways;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE2 5 +NX_O15344 E3 ubiquitin-protein ligase Midline-1 667 75251 6.35 0 Cytoplasm;Spindle;Centriolar satellite;Cytoskeleton Opitz GBBB syndrome 1 Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination. Phosphorylated on serine and threonine residues. Belongs to the TRIM/RBCC family. Ubiquitin mediated proteolysis;Interferon gamma signaling PE1 X +NX_O15347 High mobility group protein B3 200 22980 8.48 0 Cytoplasm;Nucleolus;Chromosome;Nucleoplasm;Nucleus Microphthalmia, syndromic, 13 Multifunctional protein with various roles in different cellular compartments. May act in a redox sensitive manner. Associates with chromatin and binds DNA with a preference to non-canonical DNA structures such as single-stranded DNA. Can bent DNA and enhance DNA flexibility by looping thus providing a mechanism to promote activities on various gene promoters (By similarity). Proposed to be involved in the innate immune response to nucleic acids by acting as a cytoplasmic promiscuous immunogenic DNA/RNA sensor (By similarity). Negatively regulates B-cell and myeloid cell differentiation. In hematopoietic stem cells may regulate the balance between self-renewal and differentiation. Involved in negative regulation of canonical Wnt signaling (By similarity). Reduction/oxidation of cysteine residues Cys-23, Cys-45 and Cys-104 and a possible intramolecular disulfide bond involving Cys-23 and Cys-45 give rise to different redox forms with specific functional activities in various cellular compartments: 1- fully reduced HMGB3 (HMGB3C23hC45hC104h), 2- disulfide HMGB3 (HMGB3C23-C45C104h) and 3- sulfonyl HMGB3 (HMGB3C23soC45soC104so). Belongs to the HMGB family. NA PE1 X +NX_O15350 Tumor protein p73 636 69623 6.47 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Nucleus NA Participates in the apoptotic response to DNA damage. Isoforms containing the transactivation domain are pro-apoptotic, isoforms lacking the domain are anti-apoptotic and block the function of p53 and transactivating p73 isoforms. May be a tumor suppressor protein. (but not isoform beta) is sumoylated on Lys-627, which potentiates proteasomal degradation but does not affect transcriptional activity. Phosphorylation by PLK1 and PLK3 inhibits the transcription regulator activity and pro-apoptotic function.;Polyubiquitinated by RCHY1/PIRH2; leading to its degradation by the proteasome.;Higher levels of phosphorylation seen in the brain from patients with Huntington disease.;TP73 is phosphorylated by PLK3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the p53 family. p53 signaling pathway;Neurotrophin signaling pathway;Measles;Activation of PUMA and translocation to mitochondria;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;TP53 Regulates Transcription of Death Receptors and Ligands;TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain;TP53 Regulates Transcription of Caspase Activators and Caspases;Regulation of TP53 Activity through Association with Co-factors;RUNX1 regulates transcription of genes involved in differentiation of HSCs PE1 1 +NX_O15353 Forkhead box protein N1 648 68925 5.93 0 Nucleus T-cell immunodeficiency, congenital alopecia, and nail dystrophy Transcriptional regulator which regulates the development, differentiation, and function of thymic epithelial cells (TECs) both in the prenatal and postnatal thymus. Acts as a master regulator of the TECs lineage development and is required from the onset of differentiation in progenitor TECs in the developing fetus to the final differentiation steps through which TECs mature to acquire their full functionality. Regulates, either directly or indirectly the expression of a variety of genes that mediate diverse aspects of thymus development and function, including MHC Class II, DLL4, CCL25, CTSL, CD40 and PAX1. Regulates the differentiation of the immature TECs into functional cortical TECs (cTECs) and medullary TECs (mTECs). Essential for maintenance of mTECs population in the postnatal thymus. Involved in the morphogenesis and maintenance of the three-dimensional thymic microstructure which is necessary for a fully functional thymus. Plays an important role in the maintenance of hematopoiesis and particularly T lineage progenitors within the bone marrow niche with age. Essential for the vascularization of the thymus anlage. Promotes the terminal differentiation of epithelial cells in the epidermis and hair follicles, partly by negatively regulating the activity of protein kinase C (By similarity). Plays a crucial role in the early prenatal stages of T-cell ontogeny (PubMed:21507891). NA NA NA PE1 17 +NX_O15354 Prosaposin receptor GPR37 613 67114 8.68 7 Cytosol;Endoplasmic reticulum membrane;Nucleus membrane;Cell membrane NA Receptor for the neuroprotective and glioprotective factor prosaposin. Ligand binding induces endocytosis, followed by an ERK phosphorylation cascade. Ubiquitinated by PRKN in the presence of UBE2E1 and UBE2L3 in the endoplasmic reticulum. The unfolded form is specifically ubiquitinated by SYVN1, which promotes its proteasomal degradation and prevents neuronal cell death. Belongs to the G-protein coupled receptor 1 family. Parkinson's disease;G alpha (i) signalling events;Peptide ligand-binding receptors PE1 7 +NX_O15355 Protein phosphatase 1G 546 59272 4.28 0 Membrane;Nucleoplasm;Cytoplasm NA NA NA Belongs to the PP2C family. NA PE1 2 +NX_O15357 Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 1258 138599 6.1 0 Golgi apparatus;Nucleus speckle;Membrane;Lamellipodium;Filopodium;Cytosol;Nucleus;Cytoskeleton Diabetes mellitus, non-insulin-dependent;Opsismodysplasia Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Plays a central role in regulation of PI3K-dependent insulin signaling, although the precise molecular mechanisms and signaling pathways remain unclear. While overexpression reduces both insulin-stimulated MAP kinase and Akt activation, its absence does not affect insulin signaling or GLUT4 trafficking. Confers resistance to dietary obesity. May act by regulating AKT2, but not AKT1, phosphorylation at the plasma membrane. Part of a signaling pathway that regulates actin cytoskeleton remodeling. Required for the maintenance and dynamic remodeling of actin structures as well as in endocytosis, having a major impact on ligand-induced EGFR internalization and degradation. Participates in regulation of cortical and submembraneous actin by hydrolyzing PtdIns(3,4,5)P3 thereby regulating membrane ruffling (PubMed:21624956). Regulates cell adhesion and cell spreading. Required for HGF-mediated lamellipodium formation, cell scattering and spreading. Acts as a negative regulator of EPHA2 receptor endocytosis by inhibiting via PI3K-dependent Rac1 activation. Acts as a regulator of neuritogenesis by regulating PtdIns(3,4,5)P3 level and is required to form an initial protrusive pattern, and later, maintain proper neurite outgrowth. Acts as a negative regulator of the FC-gamma-RIIA receptor (FCGR2A). Mediates signaling from the FC-gamma-RIIB receptor (FCGR2B), playing a central role in terminating signal transduction from activating immune/hematopoietic cell receptor systems. Involved in EGF signaling pathway. Upon stimulation by EGF, it is recruited by EGFR and dephosphorylates PtdIns(3,4,5)P3. Plays a negative role in regulating the PI3K-PKB pathway, possibly by inhibiting PKB activity. Down-regulates Fc-gamma-R-mediated phagocytosis in macrophages independently of INPP5D/SHIP1. In macrophages, down-regulates NF-kappa-B-dependent gene transcription by regulating macrophage colony-stimulating factor (M-CSF)-induced signaling. May also hydrolyze PtdIns(1,3,4,5)P4, and could thus affect the levels of the higher inositol polyphosphates like InsP6. Involved in endochondral ossification. Tyrosine phosphorylated by the members of the SRC family after exposure to a diverse array of extracellular stimuli such as insulin, growth factors such as EGF or PDGF, chemokines, integrin ligands and hypertonic and oxidative stress. May be phosphorylated upon IgG receptor FCGR2B-binding. Phosphorylated at Tyr-986 following cell attachment and spreading. Phosphorylated at Tyr-1162 following EGF signaling pathway stimulation. Phosphorylated at Thr-958 in response to PDGF.;INPPL1 is phosphorylated by SRC (Phosphotyrosine:PTM-0255) Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase family. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PIPs at the plasma membrane;Interleukin receptor SHC signaling;Synthesis of IP3 and IP4 in the cytosol PE1 11 +NX_O15360 Fanconi anemia group A protein 1455 162775 6.13 0 Nucleoplasm;Cytoplasm;Nucleus Fanconi anemia, complementation group A DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Phosphorylation is required for the formation of the nuclear complex. Not phosphorylated in cells derived from groups A, B, C, E, F, G, and H. NA Fanconi anemia pathway;Fanconi Anemia Pathway PE1 16 +NX_O15370 Transcription factor SOX-12 315 34122 5.08 0 Nucleoplasm;Nucleus NA Binds to the sequence 5'-AACAAT-3'. NA NA NA PE1 20 +NX_O15371 Eukaryotic translation initiation factor 3 subunit D 548 63973 5.79 0 Cytoplasm;Cytosol NA (Microbial infection) In case of FCV infection, plays a role in the ribosomal termination-reinitiation event leading to the translation of VP2 (PubMed:18056426).;MRNA cap-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, a complex required for several steps in the initiation of protein synthesis of a specialized repertoire of mRNAs (PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:18599441, PubMed:25849773). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). In the eIF-3 complex, EIF3D specifically recognizes and binds the 7-methylguanosine cap of a subset of mRNAs (PubMed:27462815). NA Belongs to the eIF-3 subunit D family. RNA transport;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit PE1 22 +NX_O15372 Eukaryotic translation initiation factor 3 subunit H 352 39930 6.09 0 Cytoplasm;Cytosol NA Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). NA Belongs to the eIF-3 subunit H family. RNA transport;Measles;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit PE1 8 +NX_O15374 Monocarboxylate transporter 5 487 54022 8.25 12 Cytosol;Cell membrane;Cytoskeleton NA Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity). NA Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. NA PE1 1 +NX_O15375 Monocarboxylate transporter 6 505 54994 8.59 12 Cell membrane NA Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity). NA Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. NA PE1 17 +NX_O15379 Histone deacetylase 3 428 48848 4.98 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Cytosol;Nucleus NA Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4), and some other non-histone substrates. Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Participates in the BCL6 transcriptional repressor activity by deacetylating the H3 'Lys-27' (H3K27) on enhancer elements, antagonizing EP300 acetyltransferase activity and repressing proximal gene expression. Probably participates in the regulation of transcription through its binding to the zinc-finger transcription factor YY1; increases YY1 repression activity. Required to repress transcription of the POU1F1 transcription factor. Acts as a molecular chaperone for shuttling phosphorylated NR2C1 to PML bodies for sumoylation (PubMed:21444723, PubMed:23911289). Contributes, together with XBP1 isoform 1, to the activation of NFE2L2-mediated HMOX1 transcription factor gene expression in a PI(3)K/mTORC2/Akt-dependent signaling pathway leading to endothelial cell (EC) survival under disturbed flow/oxidative stress (PubMed:25190803). Regulates both the transcriptional activation and repression phases of the circadian clock in a deacetylase activity-independent manner (By similarity). During the activation phase, promotes the accumulation of ubiquitinated ARNTL/BMAL1 at the E-boxes and during the repression phase, blocks FBXL3-mediated CRY1/2 ubiquitination and promotes the interaction of CRY1 and ARNTL/BMAL1 (By similarity). The NCOR1-HDAC3 complex regulates the circadian expression of the core clock gene ARTNL/BMAL1 and the genes involved in lipid metabolism in the liver (By similarity). Serves as a corepressor of RARA, causing its deacetylation and inhibition of RARE DNA element binding (PubMed:28167758). In association with RARA, plays a role in the repression of microRNA-10a and thereby in the inflammatory response (PubMed:28167758). Sumoylated in vitro. Belongs to the histone deacetylase family. HD type 1 subfamily. PPARA activates gene expression;HDACs deacetylate histones;Association of TriC/CCT with target proteins during biosynthesis;Notch-HLH transcription pathway;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Transcriptional regulation of white adipocyte differentiation;p75NTR negatively regulates cell cycle via SC1;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);NR1D1 (REV-ERBA) represses gene expression;Activation of anterior HOX genes in hindbrain development during early embryogenesis;Regulation of PTEN gene transcription;RUNX2 regulates osteoblast differentiation;Regulation of MECP2 expression and activity;Loss of MECP2 binding ability to the NCoR/SMRT complex PE1 5 +NX_O15381 Nuclear valosin-containing protein-like 856 95051 6.11 0 Nucleoplasm;Nucleolus NA Participates in the assembly of the telomerase holoenzyme and effecting of telomerase activity via its interaction with TERT (PubMed:22226966). Involved in both early and late stages of the pre-rRNA processing pathways (PubMed:26166824). Spatiotemporally regulates 60S ribosomal subunit biogenesis in the nucleolus (PubMed:15469983, PubMed:16782053, PubMed:29107693, PubMed:26456651). Catalyzes the release of specific assembly factors, such as WDR74, from pre-60S ribosomal particles through the ATPase activity (PubMed:29107693, PubMed:26456651, PubMed:28416111). NA Belongs to the AAA ATPase family. Ribosome biogenesis in eukaryotes PE1 1 +NX_O15382 Branched-chain-amino-acid aminotransferase, mitochondrial 392 44288 8.88 0 Cytoplasm;Mitochondrion NA Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids. NA Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family. Valine, leucine and isoleucine degradation;Valine, leucine and isoleucine biosynthesis;Pantothenate and CoA biosynthesis;Metabolic pathways;Branched-chain amino acid catabolism PE1 19 +NX_O15389 Sialic acid-binding Ig-like lectin 5 551 60715 7.01 1 Membrane NA Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Binds equally to alpha-2,3-linked and alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. NA Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Neutrophil degranulation PE1 19 +NX_O15391 Transcription factor YY2 372 41347 5.76 0 Nucleus NA Functions as a multifunctional transcription factor that may exhibit positive and negative control on a large number of genes. May antagonize YY1 and function in development and differentiation. NA Belongs to the YY transcription factor family. NA PE1 X +NX_O15392 Baculoviral IAP repeat-containing protein 5 142 16389 5.66 0 Kinetochore;Cytoplasm;Chromosome;Midbody;Centromere;Spindle;Nucleus;Cytoskeleton NA Do not appear to play vital roles in mitosis (PubMed:12773388, PubMed:16291752).;Shows a marked reduction in its anti-apoptotic effects when compared with the displayed wild-type isoform (PubMed:10626797).;Multitasking protein that has dual roles in promoting cell proliferation and preventing apoptosis (PubMed:9859993, PubMed:21364656, PubMed:20627126). Component of a chromosome passage protein complex (CPC) which is essential for chromosome alignment and segregation during mitosis and cytokinesis (PubMed:16322459). Acts as an important regulator of the localization of this complex; directs CPC movement to different locations from the inner centromere during prometaphase to midbody during cytokinesis and participates in the organization of the center spindle by associating with polymerized microtubules (PubMed:20826784). Involved in the recruitment of CPC to centromeres during early mitosis via association with histone H3 phosphorylated at 'Thr-3' (H3pT3) during mitosis (PubMed:20929775). The complex with RAN plays a role in mitotic spindle formation by serving as a physical scaffold to help deliver the RAN effector molecule TPX2 to microtubules (PubMed:18591255). May counteract a default induction of apoptosis in G2/M phase (PubMed:9859993). The acetylated form represses STAT3 transactivation of target gene promoters (PubMed:20826784). May play a role in neoplasia (PubMed:10626797). Inhibitor of CASP3 and CASP7 (PubMed:21536684). In vitro phosphorylation at Thr-117 by AURKB prevents interaction with INCENP and localization to mitotic chromosomes (PubMed:14610074). Phosphorylation at Thr-48 by CK2 is critical for its mitotic and anti-apoptotic activities (PubMed:21252625). Phosphorylation at Thr-34 by CDK15 is critical for its anti-apoptotic activity (PubMed:24866247). Phosphorylation at Ser-20 by AURKC is critical for regulation of proper chromosome alignment and segregation, and possibly cytokinesis.;Ubiquitinated by the Cul9-RING ubiquitin-protein ligase complex, leading to its degradation. Ubiquitination is required for centrosomal targeting.;Acetylation at Lys-129 by CBP results in its homodimerization, while deacetylation promotes the formation of monomers which heterodimerize with XPO1/CRM1 which facilitates its nuclear export. The acetylated form represses STAT3 transactivation. The dynamic equilibrium between its acetylation and deacetylation at Lys-129 determines its interaction with XPO1/CRM1, its subsequent subcellular localization, and its ability to inhibit STAT3 transactivation. Belongs to the IAP family. Pathways in cancer;Colorectal cancer;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;SUMOylation of DNA replication proteins;TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain;Interleukin-4 and Interleukin-13 signaling;Neddylation PE1 17 +NX_O15393 Transmembrane protease serine 2 492 53859 8.12 1 Nucleoplasm;Cell junction;Secreted;Cell membrane NA Serine protease that proteolytically cleaves and activates the viral spike glycoproteins which facilitate virus-cell membrane fusions; spike proteins are synthesized and maintained in precursor intermediate folding states and proteolysis permits the refolding and energy release required to create stable virus-cell linkages and membrane coalescence. Facilitates human SARS coronavirus (SARS-CoV) infection via two independent mechanisms, proteolytic cleavage of ACE2, which might promote viral uptake, and cleavage of coronavirus spike glycoprotein which activates the glycoprotein for cathepsin L-independent host cell entry. Proteolytically cleaves and activates the spike glycoproteins of human coronavirus 229E (HCoV-229E) and human coronavirus EMC (HCoV-EMC) and the fusion glycoproteins F0 of Sendai virus (SeV), human metapneumovirus (HMPV), human parainfluenza 1, 2, 3, 4a and 4b viruses (HPIV). Essential for spread and pathogenesis of influenza A virus (strains H1N1, H3N2 and H7N9); involved in proteolytic cleavage and activation of hemagglutinin (HA) protein which is essential for viral infectivity. Proteolytically processed; by an autocatalytic mechanism. Belongs to the peptidase S1 family. Influenza A PE1 21 +NX_O15394 Neural cell adhesion molecule 2 837 93046 5.44 1 Nucleus;Cell membrane NA May play important roles in selective fasciculation and zone-to-zone projection of the primary olfactory axons. NA NA Cell adhesion molecules (CAMs);Prion diseases PE1 21 +NX_O15397 Importin-8 1037 119938 5.04 0 Nucleoplasm;Cytoplasm;Nucleus NA Seems to function in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro mediates the nuclear import of SRP19. NA Belongs to the importin beta family. Transcriptional regulation by small RNAs PE1 12 +NX_O15399 Glutamate receptor ionotropic, NMDA 2D 1336 143752 8.68 3 Cell membrane;Postsynaptic cell membrane Epileptic encephalopathy, early infantile, 46 Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:9489750, PubMed:27616483, PubMed:26875626, PubMed:28126851). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:9489750). NA Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2D/GRIN2D subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Long-term potentiation;Glutamatergic synapse;Alzheimer's disease;Amyotrophic lateral sclerosis (ALS);RAF/MAP kinase cascade;Unblocking of NMDA receptors, glutamate binding and activation;Ras activation upon Ca2+ influx through NMDA receptor;Synaptic adhesion-like molecules;Neurexins and neuroligins;Assembly and cell surface presentation of NMDA receptors;Negative regulation of NMDA receptor-mediated neuronal transmission;Long-term potentiation PE1 19 +NX_O15400 Syntaxin-7 261 29816 5.41 1 Early endosome membrane;Lysosome NA May be involved in protein trafficking from the plasma membrane to the early endosome (EE) as well as in homotypic fusion of endocytic organelles. Mediates the endocytic trafficking from early endosomes to late endosomes and lysosomes. NA Belongs to the syntaxin family. SNARE interactions in vesicular transport;Phagosome PE1 6 +NX_O15403 Monocarboxylate transporter 7 523 57393 7.95 12 Cytoplasmic vesicle;Cell membrane NA Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity). NA Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. NA PE1 17 +NX_O15405 TOX high mobility group box family member 3 576 63342 7.36 0 Nucleoplasm;Cytosol;Nucleus NA Transcriptional coactivator of the p300/CBP-mediated transcription complex. Activates transactivation through cAMP response element (CRE) sites. Protects against cell death by inducing antiapoptotic and repressing pro-apoptotic transcripts. Stimulates transcription from the estrogen-responsive or BCL-2 promoters. Required for depolarization-induced transcription activation of the C-FOS promoter in neurons. Associates with chromatin to the estrogen-responsive C3 promoter region. NA NA NA PE1 16 +NX_O15409 Forkhead box protein P2 715 79919 6.06 0 Nucleoplasm;Nucleus Speech-language disorder 1 Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Plays a role in synapse formation by regulating SRPX2 levels. Involved in neural mechanisms mediating the development of speech and language. NA NA NA PE1 7 +NX_O15417 Trinucleotide repeat-containing gene 18 protein 2968 314519 8.88 0 Nucleoplasm;Cytosol;Mitochondrion;Nucleus membrane NA NA NA NA NA PE1 7 +NX_O15427 Monocarboxylate transporter 4 465 49469 8.23 12 Nucleus membrane;Cell membrane NA Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity). NA Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. Pyruvate metabolism;Basigin interactions;Proton-coupled monocarboxylate transport PE1 17 +NX_O15428 Putative PIN1-like protein 100 11021 9.59 0 NA NA NA NA NA NA PE5 1 +NX_O15431 High affinity copper uptake protein 1 190 21091 6.89 3 Cell membrane NA High-affinity, saturable copper transporter involved in dietary copper uptake. O-Glycosylation at Thr-27 protects from proteolytic cleavage in the N-terminal extracellular domain. Belongs to the copper transporter (Ctr) (TC 1.A.56) family. SLC31A subfamily. Mineral absorption;Metal ion SLC transporters PE1 9 +NX_O15432 Probable low affinity copper uptake protein 2 143 15681 6.25 3 Membrane;Nucleus speckle;Cell membrane;Cytoskeleton NA Involved in low-affinity copper uptake. NA Belongs to the copper transporter (Ctr) (TC 1.A.56) family. SLC31A subfamily. NA PE1 9 +NX_O15438 Canalicular multispecific organic anion transporter 2 1527 169343 6.79 17 Membrane;Cell membrane NA May act as an inducible transporter in the biliary and intestinal excretion of organic anions. Acts as an alternative route for the export of bile acids and glucuronides from cholestatic hepatocytes (By similarity). NA Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. ABC transporters;Bile secretion;ABC-family proteins mediated transport;Recycling of bile acids and salts PE1 17 +NX_O15439 Multidrug resistance-associated protein 4 1325 149527 8.41 14 Membrane;Golgi apparatus;Nucleolus;Cell membrane NA May be an organic anion pump relevant to cellular detoxification. NA Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. ABC transporters;Bile secretion;Platelet degranulation;ABC-family proteins mediated transport PE1 13 +NX_O15440 Multidrug resistance-associated protein 5 1437 160660 8.87 13 Membrane;Nucleoplasm;Cell junction;Cell membrane NA Acts as a multispecific organic anion pump which can transport nucleotide analogs. NA Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. ABC transporters;ABC-family proteins mediated transport;Hyaluronan biosynthesis and export PE1 3 +NX_O15442 Metallophosphoesterase domain-containing protein 1 326 37207 6.17 0 NA NA May have metallophosphoesterase activity (in vitro). NA Belongs to the UPF0046 family. NA PE2 22 +NX_O15444 C-C motif chemokine 25 150 16609 10.2 0 Secreted NA Is an antagonist of isoform 1. Binds to atypical chemokine receptor ACKR4 and mediates the recruitment of beta-arrestin (ARRB1/2) to ACKR4.;Potentially involved in T-cell development. Recombinant protein shows chemotactic activity on thymocytes, macrophages, THP-1 cells, and dendritics cells but is inactive on peripheral blood lymphocytes and neutrophils. Binds to CCR9. NA Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Intestinal immune network for IgA production;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 19 +NX_O15446 DNA-directed RNA polymerase I subunit RPA34 510 54986 8.66 0 Nucleoplasm;Mitochondrion;Nucleolus;Chromosome NA Has been described as a component of preformed T-cell receptor (TCR) complex.;Is involved in UBTF-activated transcription, presumably at a step following PIC formation.;DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Undergoes tyrosine phosphorylation upon T-cell receptor (TCR) stimulation. This phosphorylation has not been confirmed by other groups.;Is phosphorylated on tyrosine residues in initiation-competent Pol I-beta complexes but not in Pol I-alpha complexes. Belongs to the eukaryotic RPA34 RNA polymerase subunit family. NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;B-WICH complex positively regulates rRNA expression PE1 19 +NX_O15455 Toll-like receptor 3 904 103829 6.73 1 Early endosome;Endoplasmic reticulum membrane;Endosome membrane Encephalopathy, acute, infection-induced, Herpes-specific, 2 Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR3 is a nucleotide-sensing TLR which is activated by double-stranded RNA, a sign of viral infection. Acts via the adapter TRIF/TICAM1, leading to NF-kappa-B activation, IRF3 nuclear translocation, cytokine secretion and the inflammatory response. Heavily N-glycosylated, except on that part of the surface of the ectodomain that is involved in ligand binding.;TLR3 signaling requires a proteolytic cleavage mediated by cathepsins CTSB and CTSH, the cleavage occurs between amino acids 252 and 346. The cleaved form of TLR3 is the predominant form found in endosomes. Belongs to the Toll-like receptor family. Toll-like receptor signaling pathway;Hepatitis C;Influenza A;Herpes simplex infection;RIP-mediated NFkB activation via ZBP1;Trafficking and processing of endosomal TLR;TICAM1 deficiency - HSE;TRAF3 deficiency - HSE;Toll Like Receptor 3 (TLR3) Cascade;TLR3 deficiency - HSE;UNC93B1 deficiency - HSE;TICAM1, RIP1-mediated IKK complex recruitment;TICAM1-dependent activation of IRF3/IRF7;TICAM1,TRAF6-dependent induction of TAK1 complex;TLR3-mediated TICAM1-dependent programmed cell death PE1 4 +NX_O15457 MutS protein homolog 4 936 104756 7.16 0 NA NA Involved in meiotic recombination. Required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis. NA Belongs to the DNA mismatch repair MutS family. Meiotic recombination PE1 1 +NX_O15460 Prolyl 4-hydroxylase subunit alpha-2 535 60902 5.49 0 Endoplasmic reticulum;Cytoplasmic vesicle;Endoplasmic reticulum lumen Myopia 25, autosomal dominant Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins. NA Belongs to the P4HA family. Arginine and proline metabolism;Metabolic pathways;Collagen biosynthesis and modifying enzymes PE1 5 +NX_O15466 Alpha-2,8-sialyltransferase 8E 376 43895 9.19 1 Cell membrane;Midbody;Golgi apparatus membrane NA May be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b and GT3 from GD1a, GT1b, GM1b and GD3 respectively. NA Belongs to the glycosyltransferase 29 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - ganglio series;Metabolic pathways;Sialic acid metabolism PE1 18 +NX_O15467 C-C motif chemokine 16 120 13600 9.61 0 Secreted NA Shows chemotactic activity for lymphocytes and monocytes but not neutrophils. Also shows potent myelosuppressive activity, suppresses proliferation of myeloid progenitor cells. Recombinant SCYA16 shows chemotactic activity for monocytes and THP-1 monocytes, but not for resting lymphocytes and neutrophils. Induces a calcium flux in THP-1 cells that were desensitized by prior expression to RANTES. NA Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 17 +NX_O15479 Melanoma-associated antigen B2 319 35277 8.87 0 Cytosol NA May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. NA NA NA PE1 X +NX_O15480 Melanoma-associated antigen B3 346 39211 10.07 0 NA NA NA NA NA NA PE1 X +NX_O15481 Melanoma-associated antigen B4 346 38923 9.28 0 Cytoplasm NA NA NA NA NA PE1 X +NX_O15482 Testis-specific protein TEX28 410 46131 5.86 1 Membrane NA NA NA Belongs to the TEX28 family. NA PE1 X +NX_O15484 Calpain-5 640 73169 7.57 0 Nucleoplasm;Cytosol Vitreoretinopathy, neovascular inflammatory Calcium-regulated non-lysosomal thiol-protease. NA Belongs to the peptidase C2 family. Degradation of the extracellular matrix PE1 11 +NX_O15488 Glycogenin-2 501 55184 4.97 0 Nucleoplasm;Cytosol;Nucleolus NA Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase. Self-glycosylated by the transfer of glucose residues from UDP-glucose to itself, forming an alpha-1,4-glycan of around 10 residues attached to Tyr-228. Belongs to the glycosyltransferase 8 family. Glycogenin subfamily. Glycan biosynthesis; glycogen biosynthesis.;Glycogen synthesis;Glycogen breakdown (glycogenolysis);Glycogen storage disease type 0 (liver GYS2);Glycogen storage disease type IV (GBE1) PE1 X +NX_O15492 Regulator of G-protein signaling 16 202 22749 6.18 0 Membrane;Cytosol NA Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:11602604, PubMed:18434541). Plays an important role in the phototransduction cascade by regulating the lifetime and effective concentration of activated transducin alpha. May regulate extra and intracellular mitogenic signals (By similarity). Phosphorylated. Phosphorylation at Tyr-168 by EGFR enhances GTPase accelerating (GAP) activity toward GNAI1.;Palmitoylated on Cys-2 and/or Cys-12. NA G alpha (i) signalling events;G alpha (q) signalling events;G alpha (z) signalling events PE1 1 +NX_O15496 Group 10 secretory phospholipase A2 165 18153 6.07 0 Secreted NA PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Has a powerful potency for releasing arachidonic acid from cell membrane phospholipids. Prefers phosphatidylethanolamine and phosphatidylcholine liposomes to those of phosphatidylserine. NA Belongs to the phospholipase A2 family. Glycerophospholipid metabolism;Ether lipid metabolism;Arachidonic acid metabolism;Linoleic acid metabolism;alpha-Linolenic acid metabolism;Metabolic pathways;MAPK signaling pathway;Vascular smooth muscle contraction;VEGF signaling pathway;Fc epsilon RI signaling pathway;Glutamatergic synapse;Long-term depression;GnRH signaling pathway;Pancreatic secretion;Fat digestion and absorption;Toxoplasmosis;Synthesis of PA;Acyl chain remodelling of PG;Acyl chain remodelling of PC;Acyl chain remodelling of PS;Acyl chain remodelling of PE;Acyl chain remodelling of PI PE1 16 +NX_O15498 Synaptobrevin homolog YKT6 198 22418 6.44 0 Cytoplasmic vesicle membrane;Cytosol;Mitochondrion;Golgi apparatus membrane NA Vesicular soluble NSF attachment protein receptor (v-SNARE) mediating vesicle docking and fusion to a specific acceptor cellular compartment. Functions in endoplasmic reticulum to Golgi transport; as part of a SNARE complex composed of GOSR1, GOSR2 and STX5. Functions in early/recycling endosome to TGN transport; as part of a SNARE complex composed of BET1L, GOSR1 and STX5. Has a S-palmitoyl transferase activity. Farnesylation is required for Golgi targeting.;Palmitoylated; catalyzes its own palmitoylation. Palmitoylation is required for Golgi targeting. Belongs to the synaptobrevin family. SNARE interactions in vesicular transport;COPII-mediated vesicle transport;Intra-Golgi traffic;COPI-mediated anterograde transport PE1 7 +NX_O15499 Homeobox protein goosecoid-2 205 21545 10.58 0 Nucleus NA May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC. NA Belongs to the paired homeobox family. Bicoid subfamily. NA PE2 22 +NX_O15503 Insulin-induced gene 1 protein 277 29987 9.08 6 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2 complex in the ER thus preventing it from escorting SREBPs to the Golgi. Initiates the sterol-mediated ubiquitin-mediated endoplasmic reticulum-associated degradation (ERAD) of HMGCR via recruitment of the reductase to the ubiquitin ligase, AMFR/gp78. May play a role in growth and differentiation of tissues involved in metabolic control. May play a regulatory role during G0/G1 transition of cell growth. Ubiquitinated. Subsequent to sterol deprivation, the SCAP-SREBF2 complex becomes dissociated from INSIG1, is then ubiquitinated and degraded in proteasomes. Although ubiquitination is required for rapid INSIG1 degradation, it is not required for release of the SCAP-SREBP complex. Ubiquitinated by RNF139. Belongs to the INSIG family. Regulation of cholesterol biosynthesis by SREBP (SREBF) PE1 7 +NX_O15504 Nucleoporin NUP42 423 44872 9.25 0 Nucleoplasm;Nucleus membrane;Nuclear pore complex NA Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm.;(Microbial infection) In case of infection by HIV-1, it may participate in the docking of viral Vpr at the nuclear envelope. O-glycosylated. NA RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 7 +NX_O15511 Actin-related protein 2/3 complex subunit 5 151 16320 5.47 0 Cell membrane;Cell junction;Cell projection;Cytoplasmic vesicle;Cytosol;Nucleus;Cytoskeleton NA Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947). Polyubiquitinated by RNF128 with 'Lys-63'-linked chains, leading to proteasomal degradation. Belongs to the ARPC5 family. Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Pathogenic Escherichia coli infection;Shigellosis;Salmonella infection;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;EPHB-mediated forward signaling;Clathrin-mediated endocytosis;Neutrophil degranulation PE1 1 +NX_O15514 DNA-directed RNA polymerase II subunit RPB4 142 16311 4.75 0 Nucleoplasm;Nucleus speckle;Nucleus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB4 is part of a subcomplex with RPB7 that binds to a pocket formed by RPB1, RPB2 and RPB6 at the base of the clamp element. The RBP4-RPB7 subcomplex seems to lock the clamp via RPB7 in the closed conformation thus preventing double-stranded DNA to enter the active site cleft. The RPB4-RPB7 subcomplex binds single-stranded DNA and RNA (By similarity). NA Belongs to the eukaryotic RPB4 RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Huntington's disease;Viral Messenger RNA Synthesis;Transcriptional regulation by small RNAs;PIWI-interacting RNA (piRNA) biogenesis;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;Processing of Capped Intron-Containing Pre-mRNA;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;MicroRNA (miRNA) biogenesis;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Activation of anterior HOX genes in hindbrain development during early embryogenesis;FGFR2 alternative splicing;RNA polymerase II transcribes snRNA genes;Signaling by FGFR2 IIIa TM;TP53 Regulates Transcription of DNA Repair Genes;Estrogen-dependent gene expression PE1 2 +NX_O15516 Circadian locomoter output cycles protein kaput 846 95304 6.51 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. Regulates the circadian expression of ICAM1, VCAM1, CCL2, THPO and MPL and also acts as an enhancer of the transactivation potential of NF-kappaB. Plays an important role in the homeostatic regulation of sleep. The CLOCK-ARNTL/BMAL1 heterodimer regulates the circadian expression of SERPINE1/PAI1, VWF, B3, CCRN4L/NOC, NAMPT, DBP, MYOD1, PPARGC1A, PPARGC1B, SIRT1, GYS2, F7, NGFR, GNRHR, BHLHE40/DEC1, ATF4, MTA1, KLF10 and also genes implicated in glucose and lipid metabolism. Promotes rhythmic chromatin opening, regulating the DNA accessibility of other transcription factors. The CLOCK-ARNTL2/BMAL2 heterodimer activates the transcription of SERPINE1/PAI1 and BHLHE40/DEC1. The preferred binding motif for the CLOCK-ARNTL/BMAL1 heterodimer is 5'-CACGTGA-3', which contains a flanking Ala residue in addition to the canonical 6-nucleotide E-box sequence (PubMed:23229515). CLOCK specifically binds to the half-site 5'-CAC-3', while ARNTL binds to the half-site 5'-GTGA-3' (PubMed:23229515). The CLOCK-ARNTL/BMAL1 heterodimer also recognizes the non-canonical E-box motifs 5'-AACGTGA-3' and 5'-CATGTGA-3' (PubMed:23229515). CLOCK has an intrinsic acetyltransferase activity, which enables circadian chromatin remodeling by acetylating histones and nonhistone proteins, including its own partner ARNTL/BMAL1. Represses glucocorticoid receptor NR3C1/GR-induced transcriptional activity by reducing the association of NR3C1/GR to glucocorticoid response elements (GREs) via the acetylation of multiple lysine residues located in its hinge region (PubMed:21980503). The acetyltransferase activity of CLOCK is as important as its transcription activity in circadian control. Acetylates metabolic enzymes IMPDH2 and NDUFA9 in a circadian manner. Facilitated by BMAL1, rhythmically interacts and acetylates argininosuccinate synthase 1 (ASS1) leading to enzymatic inhibition of ASS1 as well as the circadian oscillation of arginine biosynthesis and subsequent ureagenesis (PubMed:28985504). Drives the circadian rhythm of blood pressure through transcriptional activation of ATP1B1 (By similarity). Phosphorylation is dependent on the CLOCK-ARNTL/BMAL1 heterodimer formation. Phosphorylation enhances the transcriptional activity, alters the subcellular localization and decreases the stability of the heterodimer by promoting its degradation. Phosphorylation shows circadian variations in the liver. May be phosphorylated by CSNK1D and CKSN1E.;Undergoes lysosome-mediated degradation in a time-dependent manner in the liver.;Ubiquitinated, leading to its proteasomal degradation.;Sumoylation enhances its transcriptional activity and interaction with ESR1, resulting in up-regulation of ESR1 activity. Estrogen stimulates sumoylation. Desumoylation by SENP1 negatively regulates its transcriptional activity. Sumoylation stimulates cell proliferation and increases the proportion of S phase cells in breast cancer cell lines.;O-glycosylated; contains O-GlcNAc. O-glycosylation by OGT prevents protein degradation by inhibiting ubiquitination. It also stabilizes the CLOCK-ARNTL/BMAL1 heterodimer thereby increasing CLOCK-ARNTL/BMAL1-mediated transcriptional activation of PER1/2/3 and CRY1/2. NA Circadian rhythm - mammal;Dopaminergic synapse;Herpes simplex infection;HATs acetylate histones;PPARA activates gene expression;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock PE1 4 +NX_O15519 CASP8 and FADD-like apoptosis regulator 480 55344 8.19 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Apoptosis regulator protein which may function as a crucial link between cell survival and cell death pathways in mammalian cells. Acts as an inhibitor of TNFRSF6 mediated apoptosis. A proteolytic fragment (p43) is likely retained in the death-inducing signaling complex (DISC) thereby blocking further recruitment and processing of caspase-8 at the complex. Full length and shorter isoforms have been shown either to induce apoptosis or to reduce TNFRSF-triggered apoptosis. Lacks enzymatic (caspase) activity. Proteolytically processed; probably by caspase-8. Processing likely occurs at the DISC and generates subunit p43 and p12.;CFLAR is phosphorylated by PRKCE (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the peptidase C14A family. Apoptosis;Chagas disease (American trypanosomiasis);Regulation by c-FLIP;RIPK1-mediated regulated necrosis;CASP8 activity is inhibited;Dimerization of procaspase-8;TRAIL signaling PE1 2 +NX_O15520 Fibroblast growth factor 10 208 23436 9.61 0 Secreted Aplasia of lacrimal and salivary glands;Lacrimo-auriculo-dento-digital syndrome Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. May play a role in wound healing. NA Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;RAF/MAP kinase cascade;FGFR2b ligand binding and activation;PI3K Cascade;PIP3 activates AKT signaling;Activated point mutants of FGFR2;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade: FGFR1;Phospholipase C-mediated cascade, FGFR2;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Signaling by FGFR2 in disease;Regulation of gene expression in early pancreatic precursor cells;FGFR1b ligand binding and activation;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Downstream signaling of activated FGFR1;FGFRL1 modulation of FGFR1 signaling PE1 5 +NX_O15522 Homeobox protein Nkx-2.8 239 25866 9.47 0 Nucleoplasm;Nucleus;Cell membrane NA NA NA Belongs to the NK-2 homeobox family. NA PE1 14 +NX_O15523 ATP-dependent RNA helicase DDX3Y 660 73154 7.24 0 Cytoplasm;Nucleus NA Probable ATP-dependent RNA helicase. May play a role in spermatogenesis. NA Belongs to the DEAD box helicase family. DDX3/DED1 subfamily. RIG-I-like receptor signaling pathway PE1 Y +NX_O15524 Suppressor of cytokine signaling 1 211 23551 10.98 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. SOCS1 is involved in negative regulation of cytokines that signal through the JAK/STAT3 pathway. Through binding to JAKs, inhibits their kinase activity. In vitro, also suppresses Tec protein-tyrosine activity. Appears to be a major regulator of signaling by interleukin 6 (IL6) and leukemia inhibitory factor (LIF). Regulates interferon-gamma mediated sensory neuron survival (By similarity). Probable substrate recognition component of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Seems to recognize JAK2. SOCS1 appears to be a negative regulator in IGF1R signaling pathway. SOCS1 is phosphorylated by PIM1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SOCS1 is phosphorylated by PIM3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SOCS1 is phosphorylated by PIM2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the SOCS1 family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Osteoclast differentiation;Jak-STAT signaling pathway;Insulin signaling pathway;Type II diabetes mellitus;Toxoplasmosis;Antigen processing: Ubiquitination & Proteasome degradation;Interferon gamma signaling;Interferon alpha/beta signaling;Interleukin-7 signaling;Regulation of IFNA signaling;MyD88:MAL(TIRAP) cascade initiated on plasma membrane;Growth hormone receptor signaling;Regulation of KIT signaling;Regulation of IFNG signaling;Interleukin-4 and Interleukin-13 signaling PE1 16 +NX_O15525 Transcription factor MafG 162 17850 10.04 0 Nucleus NA Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves (PubMed:11154691). However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2, NFE2L1 and NFE2L2, and recruiting them to specific DNA-binding sites (PubMed:8932385, PubMed:9421508, PubMed:11154691). Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NFE2L2 transcription factor (PubMed:11154691). Transcription factor, component of erythroid-specific transcription factor NFE2L2 (PubMed:11154691). Activates globin gene expression when associated with NFE2L2 (PubMed:11154691). May be involved in signal transduction of extracellular H(+) (By similarity). Sumoylation at Lys-14 is required for active transcriptional repression.;Acetylated in erythroid cells by CREB-binding protein (CBP). Acetylation augments the DNA-binding activity of NFE2, but has no effect on binding NFE2. Belongs to the bZIP family. Maf subfamily. Factors involved in megakaryocyte development and platelet production PE1 17 +NX_O15527 N-glycosylase/DNA lyase 345 38782 8.89 0 Nucleus speckle;Mitochondrion;Nucleus matrix;Nucleoplasm;Nucleus Renal cell carcinoma DNA repair enzyme that incises DNA at 8-oxoG residues. Excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-N-methylformamidopyrimidine (FAPY) from damaged DNA. Has a beta-lyase activity that nicks DNA 3' to the lesion. NA Belongs to the type-1 OGG1 family. Base excision repair;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Displacement of DNA glycosylase by APEX1;APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine PE1 3 +NX_O15528 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial 508 56504 9.34 0 Mitochondrion membrane Rickets vitamin D-dependent 1A Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D3) to 1-alpha,25-dihydroxyvitamin D3 (1alpha,25(OH)(2)D3), and of 24,25-dihydroxyvitamin D3 (24,25(OH)(2)D3) to 1-alpha,24,25-trihydroxyvitamin D3 (1alpha,24,25(OH)(3)D3). Is also active with 25-hydroxy-24-oxo-vitamin D3. Plays an important role in normal bone growth, calcium metabolism, and tissue differentiation. NA Belongs to the cytochrome P450 family. Hormone biosynthesis; cholecalciferol biosynthesis.;Steroid biosynthesis;Metabolic pathways;Tuberculosis;Vitamin D (calciferol) metabolism;Vitamins;Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A) PE1 12 +NX_O15529 G-protein coupled receptor 42 346 38695 7.55 7 Cell membrane NA Probable G protein-coupled receptor that may be activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that may play a role in the regulation of whole-body energy homeostasis and/or in intestinal immunity. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 19 +NX_O15530 3-phosphoinositide-dependent protein kinase 1 556 63152 6.95 0 Cytoplasm;Cell membrane;Focal adhesion;Cytoplasmic vesicle;Nucleus NA Is catalytically inactive.;Serine/threonine kinase which acts as a master kinase, phosphorylating and activating a subgroup of the AGC family of protein kinases. Its targets include: protein kinase B (PKB/AKT1, PKB/AKT2, PKB/AKT3), p70 ribosomal protein S6 kinase (RPS6KB1), p90 ribosomal protein S6 kinase (RPS6KA1, RPS6KA2 and RPS6KA3), cyclic AMP-dependent protein kinase (PRKACA), protein kinase C (PRKCD and PRKCZ), serum and glucocorticoid-inducible kinase (SGK1, SGK2 and SGK3), p21-activated kinase-1 (PAK1), protein kinase PKN (PKN1 and PKN2). Plays a central role in the transduction of signals from insulin by providing the activating phosphorylation to PKB/AKT1, thus propagating the signal to downstream targets controlling cell proliferation and survival, as well as glucose and amino acid uptake and storage. Negatively regulates the TGF-beta-induced signaling by: modulating the association of SMAD3 and SMAD7 with TGF-beta receptor, phosphorylating SMAD2, SMAD3, SMAD4 and SMAD7, preventing the nuclear translocation of SMAD3 and SMAD4 and the translocation of SMAD7 from the nucleus to the cytoplasm in response to TGF-beta. Activates PPARG transcriptional activity and promotes adipocyte differentiation. Activates the NF-kappa-B pathway via phosphorylation of IKKB. The tyrosine phosphorylated form is crucial for the regulation of focal adhesions by angiotensin II. Controls proliferation, survival, and growth of developing pancreatic cells. Participates in the regulation of Ca(2+) entry and Ca(2+)-activated K(+) channels of mast cells. Essential for the motility of vascular endothelial cells (ECs) and is involved in the regulation of their chemotaxis. Plays a critical role in cardiac homeostasis by serving as a dual effector for cell survival and beta-adrenergic response. Plays an important role during thymocyte development by regulating the expression of key nutrient receptors on the surface of pre-T cells and mediating Notch-induced cell growth and proliferative responses. Provides negative feedback inhibition to toll-like receptor-mediated NF-kappa-B activation in macrophages. Monoubiquitinated in the kinase domain, deubiquitinated by USP4.;Autophosphorylated; autophosphorylation is inhibited by the apoptotic C-terminus cleavage product of PKN2.;Phosphorylation on Ser-241 in the activation loop is required for full activity. PDPK1 itself can autophosphorylate Ser-241, leading to its own activation. Autophosphorylation is inhibited by the apoptotic C-terminus cleavage product of PKN2 (By similarity). Tyr-9 phosphorylation is critical for stabilization of both PDPK1 and the PDPK1/SRC complex via HSP90-mediated protection of PDPK1 degradation. Angiotensin II stimulates the tyrosine phosphorylation of PDPK1 in vascular smooth muscle in a calcium- and SRC-dependent manner. Phosphorylated on Tyr-9, Tyr-373 and Tyr-376 by INSR in response to insulin. Palmitate negatively regulates autophosphorylation at Ser-241 and palmitate-induced phosphorylation at Ser-529 and Ser-501 by PKC/PRKCQ negatively regulates its ability to phosphorylate PKB/AKT1. Phosphorylation at Thr-354 by MELK partially inhibits kinase activity, the inhibition is cooperatively enhanced by phosphorylation at Ser-394 and Ser-398 by MAP3K5.;PDPK1 is phosphorylated by INSR (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PDPK1 subfamily. PPAR signaling pathway;mTOR signaling pathway;Focal adhesion;Insulin signaling pathway;Aldosterone-regulated sodium reabsorption;Endometrial cancer;Prostate cancer;Non-small cell lung cancer;FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;Downstream TCR signaling;PIP3 activates AKT signaling;Role of LAT2/NTAL/LAB on calcium mobilization;GPVI-mediated activation cascade;G beta:gamma signalling through PI3Kgamma;VEGFR2 mediated vascular permeability;CD28 dependent PI3K/Akt signaling;Constitutive Signaling by AKT1 E17K in Cancer;RSK activation;Activation of AKT2;Integrin alphaIIb beta3 signaling;VEGFR2 mediated cell proliferation;RHO GTPases activate PKNs;Regulation of TP53 Degradation;Estrogen-stimulated signaling through PRKCZ PE1 16 +NX_O15533 Tapasin 448 47626 6.68 1 Endoplasmic reticulum membrane Bare lymphocyte syndrome 1 Involved in the association of MHC class I with transporter associated with antigen processing (TAP) and in the assembly of MHC class I with peptide (peptide loading). NA NA Antigen processing and presentation;ER-Phagosome pathway;Antigen Presentation: Folding, assembly and peptide loading of class I MHC PE1 6 +NX_O15534 Period circadian protein homolog 1 1290 136212 5.73 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. Regulates circadian target genes expression at post-transcriptional levels, but may not be required for the repression at transcriptional level. Controls PER2 protein decay. Represses CRY2 preventing its repression on CLOCK/ARNTL target genes such as FXYD5 and SCNN1A in kidney and PPARA in liver. Besides its involvement in the maintenance of the circadian clock, has an important function in the regulation of several processes. Participates in the repression of glucocorticoid receptor NR3C1/GR-induced transcriptional activity by reducing the association of NR3C1/GR to glucocorticoid response elements (GREs) by ARNTL:CLOCK. Plays a role in the modulation of the neuroinflammatory state via the regulation of inflammatory mediators release, such as CCL2 and IL6. In spinal astrocytes, negatively regulates the MAPK14/p38 and MAPK8/JNK MAPK cascades as well as the subsequent activation of NFkappaB. Coordinately regulates the expression of multiple genes that are involved in the regulation of renal sodium reabsorption. Can act as gene expression activator in a gene and tissue specific manner, in kidney enhances WNK1 and SLC12A3 expression in collaboration with CLOCK. Modulates hair follicle cycling. Represses the CLOCK-ARNTL/BMAL1 induced transcription of BHLHE40/DEC1. Ubiquitinated; requires phosphorylation by CSNK1E and interaction with BTRC and FBXW11. Deubiquitinated by USP2 (By similarity).;Phosphorylated on serine residues by CSNK1D, CSNK1E and probably also by CSNK1G2. Phosphorylation by CSNK1D or CSNK1E promotes nuclear location of PER proteins as well as ubiquitination and subsequent degradation. May be dephosphorylated by PP1. NA Circadian rhythm - mammal;Herpes simplex infection;Circadian Clock PE1 17 +NX_O15535 Zinc finger and SCAN domain-containing protein 9 394 45954 6.94 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 6 +NX_O15537 Retinoschisin 224 25592 5.51 0 Secreted;Cell membrane Retinoschisis juvenile X-linked 1 Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (By similarity). May play a role in cell-cell adhesion processes in the retina, via homomeric interaction between octamers present on the surface of two neighboring cells (PubMed:27114531). Required for normal structure and function of the retina (PubMed:19093009). NA NA NA PE1 X +NX_O15539 Regulator of G-protein signaling 5 181 20946 6.85 0 Membrane;Cytoplasm;Nucleus NA Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(i)-alpha and G(o)-alpha, but not to G(s)-alpha (By similarity). NA NA G alpha (i) signalling events;G alpha (q) signalling events PE1 1 +NX_O15540 Fatty acid-binding protein, brain 132 14889 5.4 0 Nucleoplasm;Golgi apparatus;Cytosol;Cytoplasm NA B-FABP could be involved in the transport of a so far unknown hydrophobic ligand with potential morphogenic activity during CNS development. It is required for the establishment of the radial glial fiber system in developing brain, a system that is necessary for the migration of immature neurons to establish cortical layers (By similarity). NA Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. PPAR signaling pathway;Triglyceride catabolism;NOTCH3 Intracellular Domain Regulates Transcription PE1 6 +NX_O15541 E3 ubiquitin-protein ligase RNF113A 343 38787 5.51 0 Nucleoplasm;Nucleus speckle;Nucleus Trichothiodystrophy 5, non-photosensitive Required for pre-mRNA splicing as component of the spliceosome (PubMed:29361316, PubMed:29360106). E3 ubiquitin-protein ligase that catalyzes the transfer of ubiquitin onto target proteins (PubMed:28978524, PubMed:29144457). Catalyzes polyubiquitination of SNRNP200/BRR2 with non-canonical 'Lys-63'-linked polyubiquitin chains (PubMed:29144457). Plays a role in DNA repair via its role in the synthesis of 'Lys-63'-linked polyubiquitin chains that recruit ALKBH3 and the ASCC complex to sites of DNA damage by alkylating agents (PubMed:29144457). Ubiquitinates CXCR4, leading to its degradation, and thereby contributes to the termination of CXCR4 signaling (PubMed:28978524). NA NA Protein modification; protein ubiquitination. PE1 X +NX_O15544 Protein GR6 149 16056 6.27 0 NA NA NA NA NA NA PE2 3 +NX_O15547 P2X purinoceptor 6 441 48829 7.52 2 Membrane;Cytosol;Nucleolus NA Receptor for ATP that acts as a ligand-gated ion channel. N-glycosylated. Belongs to the P2X receptor family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Elevation of cytosolic Ca2+ levels;Platelet homeostasis PE1 22 +NX_O15550 Lysine-specific demethylase 6A 1401 154177 7.17 0 Nucleus Kabuki syndrome 2 Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17851529, PubMed:17713478, PubMed:17761849). Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27' (PubMed:17851529, PubMed:17713478, PubMed:17761849). Plays a central role in regulation of posterior development, by regulating HOX gene expression (PubMed:17851529). Demethylation of 'Lys-27' of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A (PubMed:17761849). Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression (By similarity). NA Belongs to the UTX family. HDMs demethylate histones;Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 X +NX_O15551 Claudin-3 220 23319 8.37 4 Tight junction;Cell junction;Cell membrane NA Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. NA Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE1 7 +NX_O15552 Free fatty acid receptor 2 330 37144 9.5 7 Cell membrane NA G protein-coupled receptor that is activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that plays a role in the regulation of whole-body energy homeostasis and in intestinal immunity. In omnivorous mammals, the short chain fatty acids acetate, propionate and butyrate are produced primarily by the gut microbiome that metabolizes dietary fibers. SCFAs serve as a source of energy but also act as signaling molecules. That G protein-coupled receptor is probably coupled to the pertussis toxin-sensitive, G(i/o)-alpha family of G proteins but also to the Gq family (PubMed:12496283, PubMed:12711604, PubMed:23589301). Its activation results in the formation of inositol 1,4,5-trisphosphate, the mobilization of intracellular calcium, the phosphorylation of the MAPK3/ERK1 and MAPK1/ERK2 kinases and the inhibition of intracellular cAMP accumulation. May play a role in glucose homeostasis by regulating the secretion of GLP-1, in response to short-chain fatty acids accumulating in the intestine. May also regulate the production of LEP/Leptin, a hormone acting on the central nervous system to inhibit food intake. Finally, may also regulate whole-body energy homeostasis through adipogenesis regulating both differentiation and lipid storage of adipocytes. In parallel to its role in energy homeostasis, may also mediate the activation of the inflammatory and immune responses by SCFA in the intestine, regulating the rapid production of chemokines and cytokines. May also play a role in the resolution of the inflammatory response and control chemotaxis in neutrophils. In addition to SCFAs, may also be activated by the extracellular lectin FCN1 in a process leading to activation of monocytes and inducing the secretion of interleukin-8/IL-8 in response to the presence of microbes (PubMed:21037097). Among SCFAs, the fatty acids containing less than 6 carbons, the most potent activators are probably acetate, propionate and butyrate (PubMed:12496283, PubMed:12711604). Exhibits a SCFA-independent constitutive G protein-coupled receptor activity (PubMed:23066016). NA Belongs to the G-protein coupled receptor 1 family. G alpha (q) signalling events;Free fatty acid receptors PE1 19 +NX_O15553 Pyrin 781 86444 8.3 0 Cytoplasm;Nucleoplasm;Lamellipodium;Autophagosome;Ruffle;Cytosol;Nucleus;Cytoskeleton Familial Mediterranean fever, autosomal recessive;Familial Mediterranean fever, autosomal dominant Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma. Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinating target recognition with assembly of the autophagic apparatus and initiation of autophagy. Acts as an autophagy receptor for the degradation of several inflammasome components, including CASP1, NLRP1 and NLRP3, hence preventing excessive IL1B- and IL18-mediated inflammation (PubMed:16785446, PubMed:17431422, PubMed:26347139). However, it may also have a positive effect in the inflammatory pathway. In different experimental systems, it has been shown to activate IL1B production (PubMed:16037825). It has also been shown to be required for PSTPIP1-induced PYCARD oligomerization and for formation of inflammasomes. Recruits PSTPIP1 to inflammasomes, and is required for PSTPIP1 oligomerization (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923). Cleaved by CASP1 (Probable). The N-terminal cleavage product localizes to the nucleus as a filamentous network and to the cytoplasm, interacts more strongly with RELA and NFKBIA than the full-length protein, enhances the nuclear localization of RELA and induces NFKBIA proteolysis. The C-terminal cleavage product localizes to the cytoplasm. NA NOD-like receptor signaling pathway;The NLRP3 inflammasome PE1 16 +NX_O15554 Intermediate conductance calcium-activated potassium channel protein 4 427 47696 9.87 6 Cell membrane Dehydrated hereditary stomatocytosis 2 Forms a voltage-independent potassium channel that is activated by intracellular calcium (PubMed:26148990). Activation is followed by membrane hyperpolarization which promotes calcium influx. Required for maximal calcium influx and proliferation during the reactivation of naive T-cells (PubMed:17157250, PubMed:18796614). Plays a role in the late stages of EGF-induced macropinocytosis (PubMed:24591580). Phosphorylation at His-358 by NDKB activates the channel, and conversely it's dephosphorylation by PHPT1 inhibits the channel. Belongs to the potassium channel KCNN family. KCa3.1/KCNN4 subfamily. Salivary secretion;Protein digestion and absorption;Ca2+ activated K+ channels PE1 19 +NX_O42043 Endogenous retrovirus group K member 18 Env polyprotein 560 63671 7.83 1 Virion;Cell membrane NA TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).;SU mediates receptor recognition.;Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This envelope protein has superantigenic properties. Specific enzymatic cleavages in vivo yield the mature SU and TM proteins. Belongs to the beta type-B retroviral envelope protein family. HERV class-II K(HML-2) env subfamily. NA PE1 1 +NX_O43143 Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15 795 90933 7.12 0 Nucleolus;Nucleus speckle;Nucleus NA Pre-mRNA processing factor involved in disassembly of spliceosomes after the release of mature mRNA. In cooperation with TFIP11 seem to be involved in the transition of the U2, U5 and U6 snRNP-containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns. NA Belongs to the DEAD box helicase family. DEAH subfamily. DDX15/PRP43 sub-subfamily. Spliceosome;mRNA Splicing - Major Pathway PE1 4 +NX_O43147 Small G protein signaling modulator 2 1006 113285 6.2 0 Cytoplasm;Nucleoplasm;Melanosome;Cytosol NA Possesses GTPase activator activity towards RAB32, RAB33B and RAB38 (PubMed:26620560, PubMed:21808068). Regulates the trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes by inactivating RAB32 and RAB38. Inhibits RAB32 and RAB38 activation both directly by promoting their GTPase activity and indirectly by disrupting the RAB9A-HPS4 interaction which is required for RAB32/38 activation (PubMed:26620560). NA Belongs to the RUTBC family. NA PE1 17 +NX_O43148 mRNA cap guanine-N7 methyltransferase 476 54844 6.29 0 Nucleoplasm;Nucleus;Nucleolus NA Catalytic subunit of the mRNA-capping methyltransferase RNMT:RAMAC complex that methylates the N7 position of the added guanosine to the 5'-cap structure of mRNAs (PubMed:9790902, PubMed:9705270, PubMed:10347220, PubMed:11114884, PubMed:22099306, PubMed:27422871). Binds RNA containing 5'-terminal GpppC (PubMed:11114884). NA Belongs to the class I-like SAM-binding methyltransferase superfamily. mRNA cap 0 methyltransferase family. mRNA surveillance pathway;mRNA Capping;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;RNA Pol II CTD phosphorylation and interaction with CE PE1 18 +NX_O43149 Zinc finger ZZ-type and EF-hand domain-containing protein 1 2961 331075 5.62 0 Nucleoplasm;Mitochondrion NA NA NA NA NA PE1 17 +NX_O43150 Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 1006 111651 6.24 0 Golgi stack membrane;Cytoplasm;Cytosol;Cell membrane NA Activates the small GTPases ARF1, ARF5 and ARF6. Regulates the formation of post-Golgi vesicles and modulates constitutive secretion. Modulates phagocytosis mediated by Fc gamma receptor and ARF6. Modulates PXN recruitment to focal contacts and cell migration. Phosphorylated on tyrosine residues by SRC and PTK2B.;ASAP2 is phosphorylated by PTK2B (Phosphotyrosine:PTM-0255) NA Endocytosis;Fc gamma R-mediated phagocytosis PE1 2 +NX_O43151 Methylcytosine dioxygenase TET3 1660 179350 7.01 0 Cytoplasm;Chromosome;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in epigenetic chromatin reprogramming in the zygote following fertilization. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation (By similarity). Selectively binds to the promoter region of target genes and contributes to regulate the expression of numerous developmental genes (PubMed:23217707). In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the adjacent maternal pronucleus and certain paternally-imprinted loci are protected from this process. Participates in DNA demethylation in the paternal pronucleus by mediating conversion of 5mC into 5hmC, 5fC and 5caC. Does not mediate DNA demethylation of maternal pronucleus because of the presence of DPPA3/PGC7 on maternal chromatin that prevents TET3-binding to chromatin (By similarity). In addition to its role in DNA demethylation, also involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT (PubMed:23353889). NA Belongs to the TET family. TET1,2,3 and TDG demethylate DNA PE1 2 +NX_O43155 Leucine-rich repeat transmembrane protein FLRT2 660 74049 7.88 1 Microsome membrane;Endoplasmic reticulum membrane;Extracellular matrix;Synaptosome;Cell membrane;Focal adhesion;Secreted NA Functions in cell-cell adhesion, cell migration and axon guidance. Mediates cell-cell adhesion via its interactions with ADGRL3 and probably also other latrophilins that are expressed at the surface of adjacent cells. May play a role in the migration of cortical neurons during brain development via its interaction with UNC5D. Mediates axon growth cone collapse and plays a repulsive role in neuron guidance via its interaction with UNC5D, and possibly also other UNC-5 family members. Plays a role in fibroblast growth factor-mediated signaling cascades. Required for normal organization of the cardiac basement membrane during embryogenesis, and for normal embryonic epicardium and heart morphogenesis. Proteolytic cleavage in the juxtamembrane region gives rise to a soluble ectodomain. Cleavage is probably effected by a metalloprotease.;N-glycosylated. NA Downstream signaling of activated FGFR1 PE1 14 +NX_O43156 TELO2-interacting protein 1 homolog 1089 122069 5.63 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle NA Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, which regulate cell growth and survival in response to nutrient and hormonal signals. Phosphorylated at Ser-828 by CK2 following growth factor deprivation, leading to its subsequent ubiquitination by the SCF(FBXO9) complex. Phosphorylation by CK2 only takes place when TELO2 is bound to mTORC1, not mTORC2; leading to selective ubiquitination of mTORC1-associated protein.;Ubiquitinated by the SCF(FBXO9) complex following phosphorylation by CK2 in response to growth factor deprivation, leading to its degradation by the proteasome. Only mTORC1-associated protein is ubiquitinated and degraded, leading to selective inactivation of mTORC1 to restrain cell growth and protein translation, while mTORC2 is activated due to the relief of feedback inhibition by mTORC1. Belongs to the tti1 family. NA PE1 20 +NX_O43157 Plexin-B1 2135 232298 5.29 1 Secreted;Cell membrane NA Receptor for SEMA4D (PubMed:19843518, PubMed:20877282, PubMed:21912513). Plays a role in GABAergic synapse development (By similarity). Mediates SEMA4A- and SEMA4D-dependent inhibitory synapse development (By similarity). Plays a role in RHOA activation and subsequent changes of the actin cytoskeleton (PubMed:12196628, PubMed:15210733). Plays a role in axon guidance, invasive growth and cell migration (PubMed:12198496). Proteolytic processing favors heterodimerization with PLXNB2 and SEMA4D binding.;Phosphorylated on tyrosine residues by ERBB2 and MET upon SEMA4D binding. Belongs to the plexin family. Axon guidance;G alpha (12/13) signalling events;Sema4D mediated inhibition of cell attachment and migration;Sema4D induced cell migration and growth-cone collapse PE1 3 +NX_O43159 Ribosomal RNA-processing protein 8 456 50715 9.51 0 Nucleoplasm;Cytosol;Nucleolus NA Essential component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. In the complex, RRP8 binds to H3K9me2 and probably acts as a methyltransferase. Its substrates are however unknown. NA Belongs to the methyltransferase superfamily. RRP8 family. SIRT1 negatively regulates rRNA expression PE1 11 +NX_O43164 E3 ubiquitin-protein ligase Praja-2 708 78214 4.28 0 Cytoplasm;Endoplasmic reticulum membrane;Cell membrane;Postsynaptic density;Synapse;Golgi apparatus membrane;Cytoskeleton NA Has E2-dependent E3 ubiquitin-protein ligase activity. Responsible for ubiquitination of cAMP-dependent protein kinase type I and type II-alpha/beta regulatory subunits and for targeting them for proteasomal degradation. Essential for PKA-mediated long-term memory processes. Through the ubiquitination of MFHAS1, positively regulates the TLR2 signaling pathway that leads to the activation of the downstream p38 and JNK MAP kinases and promotes the polarization of macrophages toward the pro-inflammatory M1 phenotype (PubMed:28471450). NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 5 +NX_O43166 Signal-induced proliferation-associated 1-like protein 1 1804 200029 8.4 0 Cell membrane;Synaptosome;Postsynaptic density;Cytoskeleton NA Stimulates the GTPase activity of RAP2A. Promotes reorganization of the actin cytoskeleton and recruits DLG4 to F-actin. Contributes to the regulation of dendritic spine morphogenesis (By similarity). Ubiquitinated and degraded by the SCF(BTRC) following phosphorylation by PLK2.;Phosphorylated at Ser-1349 by CDK5, creating a docking site for the POLO box domains of PLK2. Subsequently, PLK2 binds and phosphorylates SIPA1L1, leading to ubiquitination and degradation by the proteasome (By similarity). NA Neurexins and neuroligins PE1 14 +NX_O43167 Zinc finger and BTB domain-containing protein 24 697 78282 7.42 0 Nucleoplasm;Centrosome;Nucleus;Cytoskeleton Immunodeficiency-centromeric instability-facial anomalies syndrome 2 May be involved in BMP2-induced transcription. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 6 +NX_O43169 Cytochrome b5 type B 150 16695 4.88 1 Mitochondrion outer membrane;Endoplasmic reticulum;Cytosol;Centriolar satellite NA Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases. NA Belongs to the cytochrome b5 family. Phase I - Functionalization of compounds PE1 16 +NX_O43172 U4/U6 small nuclear ribonucleoprotein Prp4 522 58449 7.05 0 Nucleus speckle;Nucleus Retinitis pigmentosa 70 Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). NA NA Spliceosome;mRNA Splicing - Major Pathway PE1 9 +NX_O43173 Sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase 380 43970 9.56 1 Golgi apparatus;Golgi apparatus membrane NA Catalyzes the transfer of sialic acid from a CMP-linked sialic acid donor onto the terminal sialic acid of an acceptor through alpha-2,8-linkages. Is active with alpha-2,3-linked, alpha-2,6-linked and alpha-2,8-linked sialic acid of N-linked oligosaccharides of glycoproteins and glycolipids. Displays preference for substrates with alpha-2,3-linked terminal sialic acid. It can form polysialic acid in vitro directly on alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid. NA Belongs to the glycosyltransferase 29 family. Protein modification; protein glycosylation.;Sialic acid metabolism;N-Glycan antennae elongation PE1 18 +NX_O43174 Cytochrome P450 26A1 497 56199 8.96 0 Microsome membrane;Endoplasmic reticulum membrane NA Plays a key role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and its stereoisomer 9-cis-RA. Capable of both 4-hydroxylation and 18-hydroxylation. Responsible for generation of several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA and 18-OH-RA.;Has also a significant activity in oxidation of tazarotenic acid and may therefore metabolize that xenobiotic in vivo. NA Belongs to the cytochrome P450 family. Retinol metabolism;RA biosynthesis pathway;Vitamins PE1 10 +NX_O43175 D-3-phosphoglycerate dehydrogenase 533 56650 6.29 0 Nucleoplasm;Cytosol;Cell membrane Phosphoglycerate dehydrogenase deficiency;Neu-Laxova syndrome 1 Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L-serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate. NA Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. Amino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glycerate: step 1/3.;Glycine, serine and threonine metabolism;Metabolic pathways;Serine biosynthesis PE1 1 +NX_O43181 NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial 175 20108 10.3 0 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex I deficiency, nuclear type 1 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFS4 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 5 +NX_O43182 Rho GTPase-activating protein 6 974 105947 7 0 Cytoplasm;Cytosol NA GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Could regulate the interactions of signaling molecules with the actin cytoskeleton. Promotes continuous elongation of cytoplasmic processes during cell motility and simultaneous retraction of the cell body changing the cell morphology. NA NA Rho GTPase cycle PE1 X +NX_O43184 Disintegrin and metalloproteinase domain-containing protein 12 909 99542 8.79 1 Secreted;Cell membrane NA Involved in skeletal muscle regeneration, specifically at the onset of cell fusion. Also involved in macrophage-derived giant cells (MGC) and osteoclast formation from mononuclear precursors (By similarity). The precursor is cleaved by a furin endopeptidase. NA Signaling by EGFR;Invadopodia formation PE1 10 +NX_O43186 Cone-rod homeobox protein 299 32261 9.23 0 Nucleus Leber congenital amaurosis 7;Cone-rod dystrophy 2;Retinitis pigmentosa Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB and RAX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors. NA Belongs to the paired homeobox family. NA PE1 19 +NX_O43187 Interleukin-1 receptor-associated kinase-like 2 625 69433 5.51 0 Cytoplasmic vesicle NA Binds to the IL-1 type I receptor following IL-1 engagement, triggering intracellular signaling cascades leading to transcriptional up-regulation and mRNA stabilization. IRAK2 is phosphorylated by IRAK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Pelle subfamily. Apoptosis;Neurotrophin signaling pathway;Tuberculosis;NOD1/2 Signaling Pathway;activated TAK1 mediates p38 MAPK activation;MyD88:MAL(TIRAP) cascade initiated on plasma membrane;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;MyD88 dependent cascade initiated on endosome;MyD88 cascade initiated on plasma membrane;TRAF6-mediated induction of TAK1 complex within TLR4 complex;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;IRAK2 mediated activation of TAK1 complex;IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation;Interleukin-1 signaling PE1 3 +NX_O43189 PHD finger protein 1 567 62106 9.27 0 Nucleoplasm;Centrosome;Nucleus NA Polycomb group (PcG) that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex. Involved in DNA damage response and is recruited at double-strand breaks (DSBs). Acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting the PRC2 complex: it is however unclear whether recruitment of the PRC2 complex to H3K36me3 leads to enhance or inhibit H3K27me3 methylation mediated by the PRC2 complex. According to some reports, PRC2 recruitment by PHF1 promotes H3K27me3 and subsequent gene silencing by inducing spreading of PRC2 and H3K27me3 into H3K36me3 loci (PubMed:18285464 and PubMed:23273982). According to another report, PHF1 recruits the PRC2 complex at double-strand breaks (DSBs) and inhibits the activity of PRC2 (PubMed:23142980). Regulates p53/TP53 stability and prolonges its turnover: may act by specifically binding to a methylated from of p53/TP53. NA Belongs to the Polycomblike family. PRC2 methylates histones and DNA PE1 6 +NX_O43193 Motilin receptor 412 45344 9.97 7 Cell membrane NA Receptor for motilin. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Peptide ligand-binding receptors;G alpha (q) signalling events PE2 13 +NX_O43194 G-protein coupled receptor 39 453 51329 9.43 7 Cell membrane NA Zn(2+) acts as an agonist. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Its effect is mediated mainly through G(q)-alpha and G(12)/G(13) proteins. Involved in regulation of body weight, gastrointestinal mobility, hormone secretion and cell death (By similarity). NA Belongs to the G-protein coupled receptor 1 family. G alpha (q) signalling events;Class A/1 (Rhodopsin-like receptors);G alpha (s) signalling events PE1 2 +NX_O43196 MutS protein homolog 5 834 92875 5.95 0 Endoplasmic reticulum;Cytoplasmic vesicle Premature ovarian failure 13 Involved in DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis (By similarity). NA Belongs to the DNA mismatch repair MutS family. Meiotic recombination PE1 6 +NX_O43236 Septin-4 478 55098 5.77 0 Cytoplasm;Mitochondrion;Nucleoplasm;Flagellum;Nucleus;Cytoskeleton NA Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). May play a role in platelet secretion.;But not the other isoforms, is required for the induction of cell death mediated by TGF-beta and by other apoptotic stimuli. SEPT4 is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. Release of apoptotic factors from the mitochondria;SMAC, XIAP-regulated apoptotic response PE1 17 +NX_O43237 Cytoplasmic dynein 1 light intermediate chain 2 492 54099 5.97 0 Cytosol;Centrosome;Cytoskeleton NA Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes. NA Belongs to the dynein light intermediate chain family. Phagosome;Vasopressin-regulated water reabsorption;Salmonella infection;Separation of Sister Chromatids;MHC class II antigen presentation;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 16 +NX_O43240 Kallikrein-10 276 30170 8.95 0 Secreted NA Has a tumor-suppressor role for NES1 in breast and prostate cancer. NA Belongs to the peptidase S1 family. Kallikrein subfamily. NA PE1 19 +NX_O43242 26S proteasome non-ATPase regulatory subunit 3 534 60978 8.47 0 Nucleoplasm;Cytosol NA Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. NA Belongs to the proteasome subunit S3 family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neutrophil degranulation;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 17 +NX_O43246 Cationic amino acid transporter 4 635 68268 6.59 13 Membrane NA Involved in the transport of the cationic amino acids (arginine, lysine and ornithine). NA Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family. NA PE1 22 +NX_O43247 Testis-expressed protein 33 280 30725 7.77 0 NA NA NA NA NA NA PE1 22 +NX_O43248 Homeobox protein Hox-C11 304 33748 8.81 0 Nucleoplasm;Cytosol;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to a promoter element of the lactase-phlorizin hydrolase gene. NA Belongs to the Abd-B homeobox family. NA PE1 12 +NX_O43251 RNA binding protein fox-1 homolog 2 390 41374 6.71 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Prevents binding of U2AF2 to the 3'-splice site. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis (By similarity). RNA-binding protein that seems to act as a coregulatory factor of ER-alpha. RBFOX2 is phosphorylated by MAPK3 NA FGFR2 alternative splicing PE1 22 +NX_O43252 Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 624 70833 6.4 0 Nucleoplasm;Nucleolus NA Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3'-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate-activation pathway (PubMed:9576487, PubMed:9668121, PubMed:9648242, PubMed:14747722). Required for normal biosynthesis of sulfated L-selectin ligands in endothelial cells (PubMed:9576487). NA In the N-terminal section; belongs to the APS kinase family.;In the C-terminal section; belongs to the sulfate adenylyltransferase family. Sulfur metabolism; sulfate assimilation.;Purine metabolism;Selenocompound metabolism;Sulfur metabolism;Metabolic pathways;Transport and synthesis of PAPS;Metabolism of ingested H2SeO4 and H2SeO3 into H2Se;Signaling by BRAF and RAF fusions PE1 4 +NX_O43255 E3 ubiquitin-protein ligase SIAH2 324 34615 6.71 0 Cytoplasm;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation (GPS2, POU2AF1, PML, NCOR1), a cell surface receptor (DCC), an antiapoptotic protein (BAG1), and a protein involved in synaptic vesicle function in neurons (SYP). Mediates ubiquitination and proteasomal degradation of DYRK2 in response to hypoxia. It is thereby involved in apoptosis, tumor suppression, cell cycle, transcription and signaling processes. Has some overlapping function with SIAH1. Triggers the ubiquitin-mediated degradation of TRAF2, whereas SIAH1 does not. Promotes monoubiquitination of SNCA. Regulates cellular clock function via ubiquitination of the circadian transcriptional repressors NR1D1 and NR1D2 leading to their proteasomal degradation. Plays an important role in mediating the rhythmic degradation/clearance of NR1D1 and NR1D2 contributing to their circadian profile of protein abundance (PubMed:26392558). Phosphorylated at Ser-28 by MAPK14, which mediates the degradation by the proteasome of EGLN3 (By similarity). Phosphorylated at Ser-28 by DYRK2; this increases the ubiquitin ligase activity and promotes degradation of EGLN3. Belongs to the SINA (Seven in absentia) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Amyloid fiber formation;Netrin-1 signaling;Ub-specific processing proteases PE1 3 +NX_O43257 Zinc finger HIT domain-containing protein 1 154 17536 9.55 0 Nucleoplasm;Nucleus NA Seems to play a role in p53-mediated apoptosis induction (PubMed:17380123). Binds to NR1D2 and relieves it of its inhibitory effect on the transcription of APOC3 without affecting its DNA-binding activity (PubMed:17892483). Stres-induced ZNHIT1 is mainly regulated at the level of protein.;Phosphorylated on Thr by MAPK11 or MAPK14.;ZNHIT1 is phosphorylated by MAPK11 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the ZNHIT1 family. NA PE1 7 +NX_O43261 Leukemia-associated protein 1 78 8962 5.14 0 NA NA May act as a tumor suppressor. NA NA NA PE1 13 +NX_O43264 Centromere/kinetochore protein zw10 homolog 779 88829 5.89 0 Cytoplasm;Endoplasmic reticulum membrane;Endoplasmic reticulum;Cytosol;Spindle;Kinetochore NA Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex (PubMed:11590237, PubMed:15485811, PubMed:15824131). Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the interphase NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:15029241). NA Belongs to the ZW10 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;COPI-dependent Golgi-to-ER retrograde traffic PE1 11 +NX_O43272 Proline dehydrogenase 1, mitochondrial 600 68002 7.96 0 Mitochondrion matrix Hyperprolinemia 1;Schizophrenia 4 Converts proline to delta-1-pyrroline-5-carboxylate. NA Belongs to the proline oxidase family. Amino-acid degradation; L-proline degradation into L-glutamate; L-glutamate from L-proline: step 1/2.;Arginine and proline metabolism;Metabolic pathways;Proline catabolism PE1 22 +NX_O43278 Kunitz-type protease inhibitor 1 529 58398 5.89 0 Nucleoplasm;Cytosol;Secreted;Cell membrane NA Inhibitor of HGF activator. Also acts as an inhibitor of matriptase (ST14). NA NA Signaling by MST1;MET Receptor Activation PE1 15 +NX_O43280 Trehalase 583 66568 5.46 0 Cell membrane Trehalase deficiency Intestinal trehalase is probably involved in the hydrolysis of ingested trehalose. NA Belongs to the glycosyl hydrolase 37 family. Starch and sucrose metabolism;Digestion of dietary carbohydrate PE1 11 +NX_O43281 Embryonal Fyn-associated substrate 561 58815 4.98 0 Nucleoplasm;Cytosol NA Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May serve as an activator of SRC and a downstream effector. Interacts with the SH3 domain of FYN and with CRK, SRC, and YES (By similarity). Phosphorylated on multiple tyrosine residues. Phosphorylated on tyrosines by FYN and SRC (By similarity). Belongs to the CAS family. NA PE1 14 +NX_O43283 Mitogen-activated protein kinase kinase kinase 13 966 108296 6.05 0 Cytoplasm;Centriolar satellite;Membrane;Nucleoplasm;Cytosol NA Activates the JUN N-terminal pathway through activation of the MAP kinase kinase MAP2K7. Acts synergistically with PRDX3 to regulate the activation of NF-kappa-B in the cytosol. This activation is kinase-dependent and involves activating the IKK complex, the IKBKB-containing complex that phosphorylates inhibitors of NF-kappa-B. Autophosphorylated on serine and threonine residues. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. MAPK signaling pathway PE1 3 +NX_O43286 Beta-1,4-galactosyltransferase 5 388 45119 8.21 1 Golgi stack membrane;Golgi apparatus NA Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer) (PubMed:24498430). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal maturation and axonal and myelin formation (By similarity). Plays a role in the glycosylation of BMPR1A and regulation of its protein stability (By similarity). Essential for extraembryonic development during early embryogenesis (By similarity). NA Belongs to the glycosyltransferase 7 family. Sphingolipid metabolism.;Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;O-linked glycosylation of mucins;Keratan sulfate biosynthesis;N-Glycan antennae elongation PE1 20 +NX_O43290 U4/U6.U5 tri-snRNP-associated protein 1 800 90255 5.89 0 Golgi apparatus;Nucleus speckle;Nucleus NA Plays a role in mRNA splicing as a component of the U4/U6-U5 tri-snRNP, one of the building blocks of the spliceosome. May also bind to DNA. Sumoylated with SUMO2. Belongs to the SNU66/SART1 family. Spliceosome;mRNA Splicing - Major Pathway PE1 11 +NX_O43291 Kunitz-type protease inhibitor 2 252 28228 8.68 1 Membrane;Cytosol;Cell membrane;Cytoskeleton Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies Inhibitor of HGF activator. Also inhibits plasmin, plasma and tissue kallikrein, and factor XIa. NA NA Signaling by MST1;MET Receptor Activation PE1 19 +NX_O43292 Glycosylphosphatidylinositol anchor attachment 1 protein 621 67623 8.15 7 Endoplasmic reticulum membrane Glycosylphosphatidylinositol biosynthesis defect 15 Essential for GPI-anchoring of precursor proteins but not for GPI synthesis. Acts before or during formation of the carbonyl intermediate. NA NA Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Attachment of GPI anchor to uPAR PE1 8 +NX_O43293 Death-associated protein kinase 3 454 52536 6.44 0 Nucleoplasm;Cytoplasm;Nucleus NA Can phosphorylate myosin, PPP1R12A and MYL12B. Overexpression leads to condensation of actin stress fibers into thick bundles. Involved in actin filament focal adhesion dynamics. The function in both reorganization of actin cytoskeleton and focal adhesion dissolution is modulated by RhoD. Positively regulates canonical Wnt/beta-catenin signaling through interaction with NLK and TCF7L2. Phosphorylates RPL13A on 'Ser-77' upon interferon-gamma activation which is causing RPL13A release from the ribosome, RPL13A association with the GAIT complex and its subsequent involvement in transcript-selective translation inhibition. Enhances transcription from AR-responsive promoters in a hormone- and kinase-dependent manner. Involved in regulation of cell cycle progression and cell proliferation. May be a tumor suppressor.;Serine/threonine kinase which is involved in the regulation of apoptosis, autophagy, transcription, translation and actin cytoskeleton reorganization. Involved in the regulation of smooth muscle contraction. Regulates both type I (caspase-dependent) apoptotic and type II (caspase-independent) autophagic cell deaths signal, depending on the cellular setting. Involved in regulation of starvation-induced autophagy. Regulates myosin phosphorylation in both smooth muscle and non-muscle cells. In smooth muscle, regulates myosin either directly by phosphorylating MYL12B and MYL9 or through inhibition of smooth muscle myosin phosphatase (SMPP1M) via phosphorylation of PPP1R12A; the inhibition of SMPP1M functions to enhance muscle responsiveness to Ca(2+) and promote a contractile state. Phosphorylates MYL12B in non-muscle cells leading to reorganization of actin cytoskeleton. The phosphorylation status is critical for kinase activity, oligomerization and intracellular localization. Phosphorylation at Thr-180, Thr-225 and Thr-265 is essential for activity. The phosphorylated form is localized in the cytoplasm promoted by phosphorylation at Thr-299; nuclear translocation or retention is maximal when it is not phosphorylated. Phosphorylation increases the trimeric form, and its dephosphorylation favors a kinase-inactive monomeric form. Both isoform 1 and isoform 2 can undergo autophosphorylation.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. DAP kinase subfamily. Pathways in cancer;Bladder cancer;Caspase activation via Dependence Receptors in the absence of ligand PE1 19 +NX_O43294 Transforming growth factor beta-1-induced transcript 1 protein 461 49814 6.62 0 Cytosol;Nucleus matrix;Focal adhesion;Cytoskeleton NA Functions as a molecular adapter coordinating multiple protein-protein interactions at the focal adhesion complex and in the nucleus. Links various intracellular signaling modules to plasma membrane receptors and regulates the Wnt and TGFB signaling pathways. May also regulate SLC6A3 and SLC6A4 targeting to the plasma membrane hence regulating their activity. In the nucleus, functions as a nuclear receptor coactivator regulating glucocorticoid, androgen, mineralocorticoid and progesterone receptor transcriptional activity. May play a role in the processes of cell growth, proliferation, migration, differentiation and senescence. May have a zinc-dependent DNA-binding activity. Phosphorylated by gonadotropin-releasing hormone-activated SRC.;TGFB1I1 is phosphorylated by LYN (Phosphotyrosine:PTM-0255) Belongs to the paxillin family. NA PE1 16 +NX_O43295 SLIT-ROBO Rho GTPase-activating protein 3 1099 124504 6.23 0 NA NA GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signaling in neurons. NA NA Axon guidance;Rho GTPase cycle;Inactivation of CDC42 and RAC1 PE1 3 +NX_O43296 Zinc finger protein 264 627 70587 7.36 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_O43298 Zinc finger and BTB domain-containing protein 43 467 52630 5.46 0 Nucleoplasm;Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 9 +NX_O43299 AP-5 complex subunit zeta-1 807 88605 6.57 0 Cytoplasm;Nucleoplasm;Nucleus speckle;Nucleus Spastic paraplegia 48, autosomal recessive As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair. NA NA NA PE1 7 +NX_O43300 Leucine-rich repeat transmembrane neuronal protein 2 516 59076 8.27 1 Cell membrane;Postsynaptic cell membrane NA Involved in the development and maintenance of excitatory synapse in the vertebrate nervous system. Regulates surface expression of AMPA receptors and instructs the development of functional glutamate release sites. Acts as a ligand for the presynaptic receptors NRXN1-A and NRXN1-B (By similarity). NA Belongs to the LRRTM family. Neurexins and neuroligins PE1 5 +NX_O43301 Heat shock 70 kDa protein 12A 675 74978 6.32 0 Golgi apparatus;Cytoplasm;Cytosol;Nucleus NA Adapter protein for SORL1, but not SORT1. Delays SORL1 internalization and affects SORL1 subcellular localization. NA Belongs to the heat shock protein 70 family. Regulation of HSF1-mediated heat shock response PE1 10 +NX_O43303 Centriolar coiled-coil protein of 110 kDa 1012 113424 8.83 0 Centrosome;Cilium basal body;Centriole NA Necessary for centrosome duplication at different stages of procentriole formation. Acts as a key negative regulator of ciliogenesis in collaboration with CEP97 by capping the mother centriole thereby preventing cilia formation (PubMed:17719545 PubMed:17681131, PubMed:23486064). Also involved in promoting ciliogenesis. May play a role in the assembly of the mother centriole subdistal appendages (SDA) thereby effecting the fusion of recycling endosomes to basal bodies during cilia formation (By similarity). Required for correct spindle formation and has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CETN2 (PubMed:16760425). Ubiquitinated by the SCF(CCNF) during G2 phase, leading to its degradation by the proteasome and preventing centrosome reduplication. Deubiquitinated by USP33 in S and G2/M phase, leading to stabilize CCP110 during the period which centrioles duplicate and elongate.;Phosphorylated by CDKs. NA Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2;Ub-specific processing proteases PE1 16 +NX_O43304 SEC14-like protein 5 696 78942 6.08 0 Golgi apparatus;Cytosol NA NA NA NA NA PE1 16 +NX_O43306 Adenylate cyclase type 6 1168 130615 8.56 12 Stereocilium;Golgi apparatus;Cilium;Cell membrane Lethal congenital contracture syndrome 8 Catalyzes the formation of the signaling molecule cAMP downstream of G protein-coupled receptors (PubMed:17916776, PubMed:17110384). Functions in signaling cascades downstream of beta-adrenergic receptors in the heart and in vascular smooth muscle cells (PubMed:17916776). Functions in signaling cascades downstream of the vasopressin receptor in the kidney and has a role in renal water reabsorption. Functions in signaling cascades downstream of PTH1R and plays a role in regulating renal phosphate excretion. Functions in signaling cascades downstream of the VIP and SCT receptors in pancreas and contributes to the regulation of pancreatic amylase and fluid secretion (By similarity). Signaling mediates cAMP-dependent activation of protein kinase PKA. This promotes increased phosphorylation of various proteins, including AKT. Plays a role in regulating cardiac sarcoplasmic reticulum Ca(2+) uptake and storage, and is required for normal heart ventricular contractibility. May contribute to normal heart function (By similarity). Mediates vasodilatation after activation of beta-adrenergic receptors by isoproterenol (PubMed:17916776). Contributes to bone cell responses to mechanical stimuli (By similarity). Phosphorylation by RAF1 increases enzyme activity. Phosphorylation by PKA at Ser-662 inhibits the GNAS-mediated increase in catalytic activity. Phosphorylation by PKC at Ser-556, Ser-662 and Thr-919 inhibits catalytic activity. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Chemokine signaling pathway;Oocyte meiosis;Vascular smooth muscle contraction;Gap junction;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Taste transduction;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;Endocrine and other factor-regulated calcium reabsorption;Vasopressin-regulated water reabsorption;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Bile secretion;HTLV-I infection;Dilated cardiomyopathy;G alpha (i) signalling events;G alpha (s) signalling events;Hedgehog 'off' state;PKA activation;PKA activation in glucagon signalling;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;Adrenaline,noradrenaline inhibits insulin secretion;G alpha (z) signalling events;Adenylate cyclase activating pathway;Adenylate cyclase inhibitory pathway PE1 12 +NX_O43307 Rho guanine nucleotide exchange factor 9 516 60982 5.47 0 Cytoplasm;Cytosol;Postsynaptic density Epileptic encephalopathy, early infantile, 8 Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters (By similarity). NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events;GABA receptor activation PE1 X +NX_O43309 Zinc finger and SCAN domain-containing protein 12 604 70222 6.28 0 Cytosol;Nucleus;Cytoskeleton NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 6 +NX_O43310 CBP80/20-dependent translation initiation factor 598 67587 6.1 0 Cytosol;Perinuclear region NA Specifically required for the pioneer round of mRNA translation mediated by the cap-binding complex (CBC), that takes place during or right after mRNA export via the nuclear pore complex (NPC). Acts via its interaction with the NCBP1/CBP80 component of the CBC complex and recruits the 40S small subunit of the ribosome via eIF3. In contrast, it is not involved in steady state translation, that takes place when the CBC complex is replaced by cytoplasmic cap-binding protein eIF4E. Also required for nonsense-mediated mRNA decay (NMD), the pioneer round of mRNA translation mediated by the cap-binding complex playing a central role in nonsense-mediated mRNA decay (NMD). NA Belongs to the CTIF family. NA PE1 18 +NX_O43312 Protein MTSS 1 755 82251 6.47 0 Cytosol;Cytoskeleton;Cell membrane NA May be related to cancer progression or tumor metastasis in a variety of organ sites, most likely through an interaction with the actin cytoskeleton. NA Belongs to the MTSS family. NA PE1 8 +NX_O43313 ATM interactor 823 88348 5.02 0 Nucleus NA Transcription factor. Plays a crucial role in cell survival and RAD51 foci formation in response to methylating DNA damage. Involved in regulating the activity of ATM in the absence of DNA damage. May play a role in stabilizing ATM. Binds to the DYNLL1 promoter and activates its transcription. NA NA NA PE1 16 +NX_O43314 Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 1243 140407 8.47 0 Cytoplasmic vesicle;Cytosol Deafness, autosomal recessive, 100 Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4 (PubMed:17690096, PubMed:17702752, PubMed:21222653, PubMed:29590114). PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation (PubMed:17690096, PubMed:17702752, PubMed:21222653, PubMed:29590114). Phosphorylates inositol hexakisphosphate (InsP6) at positions 1 or 3 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to produce (PP)2-InsP4 (PubMed:17690096, PubMed:17702752). Alternatively, phosphorylates at position 1 or 3 PP-InsP5, produced by IP6Ks from InsP6, to produce (PP)2-InsP4 (PubMed:17690096, PubMed:17702752). Required for normal hearing (PubMed:29590114). NA Belongs to the histidine acid phosphatase family. VIP1 subfamily. Synthesis of pyrophosphates in the cytosol PE1 5 +NX_O43315 Aquaporin-9 295 31431 7.67 6 Cell membrane NA Forms a water channel with a broad specificity. Also permeable glycerol and urea. Mediates passage of a wide variety of small, non-charged solutes including carbamides, polyols, purines, and pyrimidines. NA Belongs to the MIP/aquaporin (TC 1.A.8) family. Bile secretion;Transport of glycerol from adipocytes to the liver by Aquaporins;Passive transport by Aquaporins PE1 15 +NX_O43316 Paired box protein Pax-4 350 37833 9.42 0 Nucleus Diabetes mellitus, insulin-dependent;Diabetes mellitus, non-insulin-dependent;Diabetes mellitus, ketosis-prone;Maturity-onset diabetes of the young 9 Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site.;Appears to be a dominant negative form antagonizing PAX4 transcriptional activity. NA Belongs to the paired homeobox family. Maturity onset diabetes of the young;Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells PE1 7 +NX_O43318 Mitogen-activated protein kinase kinase kinase 7 606 67196 6.69 0 Cytoplasm;Cytosol;Nucleus speckle;Cell membrane Frontometaphyseal dysplasia 2;Cardiospondylocarpofacial syndrome Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Mediates signal transduction of TRAF6, various cytokines including interleukin-1 (IL-1), transforming growth factor-beta (TGFB), TGFB-related factors like BMP2 and BMP4, toll-like receptors (TLR), tumor necrosis factor receptor CD40 and B-cell receptor (BCR). Ceramides are also able to activate MAP3K7/TAK1. Once activated, acts as an upstream activator of the MKK/JNK signal transduction cascade and the p38 MAPK signal transduction cascade through the phosphorylation and activation of several MAP kinase kinases like MAP2K1/MEK1, MAP2K3/MKK3, MAP2K6/MKK6 and MAP2K7/MKK7. These MAP2Ks in turn activate p38 MAPKs, c-jun N-terminal kinases (JNKs) and I-kappa-B kinase complex (IKK). Both p38 MAPK and JNK pathways control the transcription factors activator protein-1 (AP-1), while nuclear factor-kappa B is activated by IKK. MAP3K7 activates also IKBKB and MAPK8/JNK1 in response to TRAF6 signaling and mediates BMP2-induced apoptosis. In osmotic stress signaling, plays a major role in the activation of MAPK8/JNK1, but not that of NF-kappa-B. Promotes TRIM5 capsid-specific restriction activity. 'Lys-48'-linked polyubiquitination at Lys-72 is induced by TNFalpha, and leads to proteasomal degradation. Undergoes 'Lys-48'-linked polyubiquitination catalyzed by ITCH (By similarity). Requires 'Lys-63'-linked polyubiquitination for autophosphorylation and subsequent activation. 'Lys-63'-linked ubiquitination does not lead to proteasomal degradation. Deubiquitinated by CYLD, a protease that selectively cleaves 'Lys-63'-linked ubiquitin chains. Deubiquitinated by Y.enterocolitica YopP.;Association with TAB1/MAP3K7IP1 promotes autophosphorylation at Ser-192 and subsequent activation. Association with TAB2/MAP3K7IP2, itself associated with free unanchored Lys-63 polyubiquitin chain, promotes autophosphorylation and subsequent activation of MAP3K7. Dephosphorylation at Ser-192 by PPM1B/PP2CB and at Thr-187 by PP2A and PPP6C leads to inactivation.;MAP3K7 is phosphorylated by PINK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAP3K7 is phosphorylated by CAMK2A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. MAPK signaling pathway;Wnt signaling pathway;Osteoclast differentiation;Adherens junction;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;T cell receptor signaling pathway;Leishmaniasis;Toxoplasmosis;Measles;Herpes simplex infection;Activation of NF-kappaB in B cells;FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;Downstream TCR signaling;NOD1/2 Signaling Pathway;activated TAK1 mediates p38 MAPK activation;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;Ca2+ pathway;TRAF6-mediated induction of TAK1 complex within TLR4 complex;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;IRAK2 mediated activation of TAK1 complex;IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation;TNFR1-induced NFkappaB signaling pathway;Ub-specific processing proteases;TICAM1,TRAF6-dependent induction of TAK1 complex;Interleukin-1 signaling PE1 6 +NX_O43320 Fibroblast growth factor 16 207 23759 9.22 0 Secreted Metacarpal 4-5 fusion Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation, and is required for normal cardiomyocyte proliferation and heart development. NA Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;Signaling by activated point mutants of FGFR3;FGFR4 ligand binding and activation;FGFR3c ligand binding and activation;FGFR2c ligand binding and activation;FGFR3 mutant receptor activation;Activated point mutants of FGFR2;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade, FGFR2;Phospholipase C-mediated cascade, FGFR3;Phospholipase C-mediated cascade, FGFR4;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;SHC-mediated cascade:FGFR3;FRS-mediated FGFR3 signaling;PI-3K cascade:FGFR3;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;PI-3K cascade:FGFR4;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Signaling by FGFR2 in disease;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Signaling by FGFR3 point mutants in cancer PE1 X +NX_O43323 Desert hedgehog protein 396 43577 9.4 0 Cell membrane;Extracellular space 46,XY sex reversal 7;Partial gonadal dysgenesis with minifascicular neuropathy 46,XY Intercellular signal essential for a variety of patterning events during development. May function as a spermatocyte survival factor in the testes. Essential for testes development. The C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity. Both activities result in the cleavage of the full-length protein and covalent attachment of a cholesterol moiety to the C-terminal of the newly generated N-terminal fragment (N-product). This covalent modification appears to play an essential role in restricting the spatial distribution of the protein activity to the cell surface. The N-product is the active species in both local and long-range signaling, whereas the C-product has no signaling activity (By similarity). Belongs to the hedgehog family. Hedgehog signaling pathway;Hedgehog ligand biogenesis;Hedgehog 'on' state;Class B/2 (Secretin family receptors);Activation of SMO;Release of Hh-Np from the secreting cell;Ligand-receptor interactions;HHAT G278V abrogates palmitoylation of Hh-Np PE1 12 +NX_O43324 Eukaryotic translation elongation factor 1 epsilon-1 174 19811 8.55 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Positive modulator of ATM response to DNA damage. NA NA Cytosolic tRNA aminoacylation;Selenoamino acid metabolism PE1 6 +NX_O43325 LYR motif-containing protein 1 122 14282 9.95 0 Midbody;Nucleoplasm;Nucleus NA May promote cell proliferation and inhibition of apoptosis of preadipocytes. NA Belongs to the complex I LYR family. NA PE1 16 +NX_O43345 Zinc finger protein 208 1280 147487 9.2 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_O43347 RNA-binding protein Musashi homolog 1 362 39125 7.7 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA RNA binding protein that regulates the expression of target mRNAs at the translation level. Regulates expression of the NOTCH1 antagonist NUMB. Binds RNA containing the sequence 5'-GUUAGUUAGUUAGUU-3' and other sequences containing the pattern 5'-[GA]U(1-3)AGU-3'. May play a role in the proliferation and maintenance of stem cells in the central nervous system (By similarity). NA Belongs to the Musashi family. mRNA surveillance pathway;Regulation of expression of SLITs and ROBOs PE1 12 +NX_O43353 Receptor-interacting serine/threonine-protein kinase 2 540 61195 6.63 0 Cytoplasm;Cytosol NA Serine/threonine/tyrosine kinase that plays an essential role in modulation of innate and adaptive immune responses. Upon stimulation by bacterial peptidoglycans, NOD1 and NOD2 are activated, oligomerize and recruit RIPK2 through CARD-CARD domains. Contributes to the tyrosine phosphorylation of the guanine exchange factor ARHGEF2 through Src tyrosine kinase leading to NF-kappaB activation by NOD2. Once recruited, RIPK2 autophosphorylates and undergoes 'Lys-63'-linked polyubiquitination by E3 ubiquitin ligases XIAP, BIRC2 and BIRC3. The polyubiquitinated protein mediates the recruitment of MAP3K7/TAK1 to IKBKG/NEMO and induces 'Lys-63'-linked polyubiquitination of IKBKG/NEMO and subsequent activation of IKBKB/IKKB. In turn, NF-kappa-B is released from NF-kappa-B inhibitors and translocates into the nucleus where it activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis. Plays also a role during engagement of the T-cell receptor (TCR) in promoting BCL10 phosphorylation and subsequent NF-kappa-B activation. Plays a role in the inactivation of RHOA in response to NGFR signaling (PubMed:26646181). Autophosphorylated. Autophosphorylation at Tyr-474 is necessary for effective NOD2 signaling. Phosphorylated. Phosphorylation at Tyr-381 by Src kinase CSK occurs in a ARHGEF2-dependent manner and is required for NOD2-dependent innate immune activation.;Ubiquitinated on Lys-209; undergoes 'Lys-63'-linked polyubiquitination catalyzed by ITCH. Polyubiquitinated with 'Lys-48' and 'Lys-63'-linked chains by BIRC2/c-IAP1 and BIRC3/c-IAP2, leading to activation of NF-kappa-B. Also undergoes 'Met-1'-linked polyubiquitination; the head-to-tail linear polyubiquitination is mediated by the LUBAC complex in response to NOD2 stimulation. Linear polyubiquitination is restricted by FAM105B/otulin, probably to limit NOD2-dependent proinflammatory signaling activation of NF-kappa-B.;RIPK2 is phosphorylated by RAF1 Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. NOD-like receptor signaling pathway;Neurotrophin signaling pathway;Shigellosis;Tuberculosis;Downstream TCR signaling;NOD1/2 Signaling Pathway;activated TAK1 mediates p38 MAPK activation;p75NTR recruits signalling complexes;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;Ovarian tumor domain proteases;Interleukin-1 signaling PE1 8 +NX_O43361 Zinc finger protein 749 778 90364 9.01 0 Nucleoplasm;Nucleus membrane;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_O43364 Homeobox protein Hox-A2 376 41002 5.54 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle Microtia, hearing impairment, and cleft palate;Microtia with or without hearing impairment Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. Proboscipedia subfamily. Activation of anterior HOX genes in hindbrain development during early embryogenesis;Regulation of expression of SLITs and ROBOs PE1 7 +NX_O43365 Homeobox protein Hox-A3 443 46369 9.3 0 Nucleoplasm;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 7 +NX_O43374 Ras GTPase-activating protein 4 803 90458 8.01 0 Cytosol;Cell membrane NA Ca(2+)-dependent Ras GTPase-activating protein, that switches off the Ras-MAPK pathway following a stimulus that elevates intracellular calcium. Functions as an adaptor for Cdc42 and Rac1 during FcR-mediated phagocytosis. NA NA Regulation of RAS by GAPs;Signaling by RAS mutants PE1 7 +NX_O43379 WD repeat-containing protein 62 1518 165954 5.57 0 Centriole;Centriolar satellite;Spindle pole;Centrosome;Cytosol;Nucleus Microcephaly 2, primary, autosomal recessive, with or without cortical malformations Required for cerebral cortical development. Plays a role in neuronal proliferation and migration (PubMed:20890278, PubMed:20729831). Plays a role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806). NA NA NA PE1 19 +NX_O43390 Heterogeneous nuclear ribonucleoprotein R 633 70943 8.23 0 Nucleoplasm;Nucleus;Cytoplasm;Microsome NA Component of ribonucleosomes, which are complexes of at least 20 other different heterogenious nuclear ribonucleoproteins (hnRNP). HnRNP play an important role in processing of precursor mRNA in the nucleus. NA NA mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA PE1 1 +NX_O43395 U4/U6 small nuclear ribonucleoprotein Prp3 683 77529 9.5 0 Nucleoplasm;Nucleus speckle;Nucleus Retinitis pigmentosa 18 Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). Ubiquitinated. Undergoes 'Lys-63'-linked polyubiquitination by PRPF19 and deubiquitination by USP4. 'Lys-63'-linked ubiquitination increases the affinity for PRPF8 and may regulate the assembly of the U4/U6-U5 tri-snRNP complex. NA Spliceosome;mRNA Splicing - Major Pathway PE1 1 +NX_O43396 Thioredoxin-like protein 1 289 32251 4.84 0 Cytoplasm;Cytosol;Nucleus NA Active thioredoxin with a redox potential of about -250 mV. NA NA NA PE1 18 +NX_O43399 Tumor protein D54 206 22238 5.26 0 Cytoplasmic vesicle;Cytosol NA NA NA Belongs to the TPD52 family. NA PE1 20 +NX_O43402 ER membrane protein complex subunit 8 210 23773 5.92 0 Cytoplasm;Cytosol;Mitochondrion NA NA NA Belongs to the EMC8/EMC9 family. NA PE1 16 +NX_O43405 Cochlin 550 59483 8.17 0 Cytoplasmic vesicle;Extracellular matrix Deafness, autosomal dominant, 9;Deafness, autosomal recessive, 110 Plays a role in the control of cell shape and motility in the trabecular meshwork. N-glycosylated.;A 50 kDa form is created by proteolytic cleavage. NA NA PE1 14 +NX_O43414 ERI1 exoribonuclease 3 337 37238 8.33 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 1 +NX_O43422 52 kDa repressor of the inhibitor of the protein kinase 761 87704 5.58 0 Nucleoplasm NA Upstream regulator of interferon-induced serine/threonine protein kinase R (PKR). May block the PKR-inhibitory function of DNAJC3, resulting in restoration of kinase activity and suppression of cell growth. NA NA NA PE1 11 +NX_O43423 Acidic leucine-rich nuclear phosphoprotein 32 family member C 234 26762 4.14 0 NA NA NA NA Belongs to the ANP32 family. NA PE1 4 +NX_O43424 Glutamate receptor ionotropic, delta-2 1007 113356 5.73 3 Cell membrane;Postsynaptic cell membrane Spinocerebellar ataxia, autosomal recessive, 18 Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. Promotes synaptogenesis and mediates the D-Serine-dependent long term depression signals and AMPA receptor endocytosis of cerebellar parallel fiber-Purkinje cell (PF-PC) synapses through the beta-NRX1-CBLN1-GRID2 triad complex (PubMed:27418511). NA Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRID2 subfamily. Neuroactive ligand-receptor interaction;Long-term depression PE1 4 +NX_O43426 Synaptojanin-1 1573 173103 7.13 0 Nucleoplasm;Cytosol;Perinuclear region;Centrosome Parkinson disease 20, early-onset;Epileptic encephalopathy, early infantile, 53 Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:27435091). Has a role in clathrin-mediated endocytosis (By similarity). Hydrolyzes PIP2 bound to actin regulatory proteins resulting in the rearrangement of actin filaments downstream of tyrosine kinase and ASH/GRB2 (By similarity). SYNJ1 is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) In the central section; belongs to the inositol 1,4,5-trisphosphate 5-phosphatase family.;Belongs to the synaptojanin family. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PIPs at the plasma membrane;Synthesis of IP2, IP, and Ins in the cytosol;Synthesis of IP3 and IP4 in the cytosol;Clathrin-mediated endocytosis PE1 21 +NX_O43427 Acidic fibroblast growth factor intracellular-binding protein 364 41878 6.02 0 Endomembrane system;Nucleus speckle;Nucleus Thauvin-Robinet-Faivre syndrome May be involved in mitogenic function of FGF1. May mediate with IER2 FGF-signaling in the establishment of laterality in the embryo (By similarity). NA NA NA PE1 11 +NX_O43432 Eukaryotic translation initiation factor 4 gamma 3 1585 176652 5.27 0 Cytoplasm;Cytosol NA Probable component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome. Thought to be a functional homolog of EIF4G1. Following infection by certain enteroviruses, rhinoviruses and aphthoviruses, EIF4G1 is cleaved by the viral protease 2A, or the leader protease in the case of aphthoviruses. This shuts down the capped cellular mRNA transcription.;EIF4G3 is phosphorylated by MAPK3 Belongs to the eukaryotic initiation factor 4G family. RNA transport;Viral myocarditis;ISG15 antiviral mechanism PE1 1 +NX_O43435 T-box transcription factor TBX1 398 43133 8.37 0 Cytosol;Nucleus Conotruncal heart malformations;Velocardiofacial syndrome;DiGeorge syndrome Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity). NA NA NA PE1 22 +NX_O43439 Protein CBFA2T2 604 67133 8.32 0 Nucleus speckle;Nucleus NA Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199). Via association with PRDM14 is involved in regulation of embryonic stem cell (ESC) pluripotency (PubMed:27281218). Involved in primordial germ cell (PCG) formation. Stabilizes PRDM14 and OCT4 on chromatin in a homooligomerization-dependent manner (By similarity). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). May function as a complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 (AML1-MTG8/ETO fusion protein) which is produced in acute myeloid leukemia with the chromosomal translocation t(8;21). May thus be involved in the repression of AML1-dependent transcription and the induction of G-CSF/CSF3-dependent cell growth. May be a tumor suppressor gene candidate involved in myeloid tumors with the deletion of the 20q11 region. Through heteromerization with CBFA2T3/MTG16 may be involved in regulation of the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Required for the maintenance of the secretory cell lineage in the small intestine. Can inhibit Notch signaling probably by association with RBPJ and may be involved in GFI1-mediated Paneth cell differentiation (By similarity). NA Belongs to the CBFA2T family. NA PE1 20 +NX_O43447 Peptidyl-prolyl cis-trans isomerase H 177 19208 8.28 0 Cytoplasm;Nucleus speckle NA PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Participates in pre-mRNA splicing. May play a role in the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome. May act as a chaperone. NA Belongs to the cyclophilin-type PPIase family. PPIase H subfamily. Spliceosome;mRNA Splicing - Major Pathway PE1 1 +NX_O43448 Voltage-gated potassium channel subunit beta-3 404 43670 8.87 0 Cytoplasm;Mitochondrion NA Accessory potassium channel protein which modulates the activity of the pore-forming alpha subunit. Alters the functional properties of Kv1.5. NA Belongs to the shaker potassium channel beta subunit family. Voltage gated Potassium channels PE1 17 +NX_O43451 Maltase-glucoamylase, intestinal 1857 209852 5.27 1 Apical cell membrane NA May serve as an alternate pathway for starch digestion when luminal alpha-amylase activity is reduced because of immaturity or malnutrition. May play a unique role in the digestion of malted dietary oligosaccharides used in food manufacturing. N- and O-glycosylated.;Does not undergo intracellular or extracellular proteolytic cleavage.;Sulfated. Belongs to the glycosyl hydrolase 31 family. Galactose metabolism;Starch and sucrose metabolism;Metabolic pathways;Carbohydrate digestion and absorption;Digestion of dietary carbohydrate;Neutrophil degranulation PE1 7 +NX_O43462 Membrane-bound transcription factor site-2 protease 519 57444 7.21 10 Cytoplasm;Mitochondrion;Membrane;Nucleoplasm;Cytosol Osteogenesis imperfecta 19;Keratosis follicularis spinulosa decalvans X-linked;IFAP syndrome with or without BRESHECK syndrome;Olmsted syndrome, X-linked Involved in regulated intramembrane proteolysis (RIP) that is the cleavage of membrane-spanning regulatory proteins by proteases within the plane of the membrane. It cleaves sterol-regulatory element-binding proteins (SREBPs) within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Mature N-terminal fragments shuttle to the nucleus and activate gene transcription (PubMed:9659902, PubMed:27380894). Involved in RIP-mediated regulation of bone formation (PubMed:27380894). NA Belongs to the peptidase M50A family. Protein processing in endoplasmic reticulum;Regulation of cholesterol biosynthesis by SREBP (SREBF);ATF6 (ATF6-alpha) activates chaperones;CREB3 factors activate genes;Assembly of active LPL and LIPC lipase complexes PE1 X +NX_O43463 Histone-lysine N-methyltransferase SUV39H1 412 47907 8.38 0 Nucleoplasm;Nucleus lamina;Centromere;Nucleus NA Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 using monomethylated H3 'Lys-9' as substrate. Also weakly methylates histone H1 (in vitro). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions. H3 'Lys-9' trimethylation is also required to direct DNA methylation at pericentric repeats. SUV39H1 is targeted to histone H3 via its interaction with RB1 and is involved in many processes, such as repression of MYOD1-stimulated differentiation, regulation of the control switch for exiting the cell cycle and entering differentiation, repression by the PML-RARA fusion protein, BMP-induced repression, repression of switch recombination to IgA and regulation of telomere length. Component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. Recruited by the large PER complex to the E-box elements of the circadian target genes such as PER2 itself or PER1, contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 'Lys-9' trimethylation. Acetylated at Lys-266, leading to inhibition of enzyme activity. SIRT1-mediated deacetylation relieves this inhibition.;Phosphorylated on serine residues, and to a lesser degree, on threonine residues. The phosphorylated form is stabilized by SBF1 and is less active in its transcriptional repressor function. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar3-9 subfamily. Lysine degradation;PKMTs methylate histone lysines;SIRT1 negatively regulates rRNA expression PE1 X +NX_O43464 Serine protease HTRA2, mitochondrial 458 48841 10.07 1 Mitochondrion membrane;Mitochondrion intermembrane space;Mitochondrion Parkinson disease 13;3-methylglutaconic aciduria 8 Seems to be proteolytically inactive.;Serine protease that shows proteolytic activity against a non-specific substrate beta-casein. Promotes or induces cell death either by direct binding to and inhibition of BIRC proteins (also called inhibitor of apoptosis proteins, IAPs), leading to an increase in caspase activity, or by a BIRC inhibition-independent, caspase-independent and serine protease activity-dependent mechanism. Cleaves THAP5 and promotes its degradation during apoptosis. Autoproteolytically activated. Belongs to the peptidase S1C family. Parkinson's disease PE1 2 +NX_O43474 Krueppel-like factor 4 513 54671 8.69 0 Nucleoplasm;Nucleus NA Transcription factor; can act both as activator and as repressor. Binds the 5'-CACCC-3' core sequence. Binds to the promoter region of its own gene and can activate its own transcription. Regulates the expression of key transcription factors during embryonic development. Plays an important role in maintaining embryonic stem cells, and in preventing their differentiation. Required for establishing the barrier function of the skin and for postnatal maturation and maintenance of the ocular surface. Involved in the differentiation of epithelial cells and may also function in skeletal and kidney development. Contributes to the down-regulation of p53/TP53 transcription. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Transcriptional regulation of pluripotent stem cells;Transcriptional regulation of white adipocyte differentiation;Synthesis, secretion, and deacylation of Ghrelin;FOXO-mediated transcription of cell cycle genes PE1 9 +NX_O43482 Protein Mis18-beta 229 24691 7.02 0 Nucleus speckle;Chromosome;Centromere;Cytoplasmic vesicle;Nucleus NA Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis. NA Belongs to the mis18 family. Deposition of new CENPA-containing nucleosomes at the centromere PE1 15 +NX_O43488 Aflatoxin B1 aldehyde reductase member 2 359 39589 6.7 0 Golgi apparatus;Cytoplasm NA Catalyzes the NADPH-dependent reduction of succinic semialdehyde to gamma-hydroxybutyrate. May have an important role in producing the neuromodulator gamma-hydroxybutyrate (GHB). Has broad substrate specificity. Has NADPH-dependent aldehyde reductase activity towards 2-carboxybenzaldehyde, 2-nitrobenzaldehyde and pyridine-2-aldehyde (in vitro). Can reduce 1,2-naphthoquinone and 9,10-phenanthrenequinone (in vitro). Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen. NA Belongs to the aldo/keto reductase family. Aldo/keto reductase 2 subfamily. Metabolism of xenobiotics by cytochrome P450;Aflatoxin activation and detoxification PE1 1 +NX_O43490 Prominin-1 865 97202 6.97 5 Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment;Cell membrane;Photoreceptor outer segment;Microvillus membrane;Endoplasmic reticulum;Apical cell membrane Retinitis pigmentosa 41;Retinal macular dystrophy 2;Cone-rod dystrophy 12;Stargardt disease 4 May play a role in cell differentiation, proliferation and apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner (PubMed:20818439). Are glycosylated.;Acetylation at Lys-225, Lys-257 and Lys-264 by NAT8 and NAT8B may control PROM1 protein expression and its function in cell apoptosis. Belongs to the prominin family. NA PE1 4 +NX_O43491 Band 4.1-like protein 2 1005 112588 5.34 0 Cell cortex;Cell membrane;Cell junction;Nucleoplasm;Cytoskeleton NA Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127). NA NA Tight junction;Neurexins and neuroligins PE1 6 +NX_O43493 Trans-Golgi network integral membrane protein 2 437 45880 5.46 1 Golgi apparatus;Nucleoplasm;trans-Golgi network membrane;Cell membrane NA May be involved in regulating membrane traffic to and from trans-Golgi network. NA NA Golgi Associated Vesicle Biogenesis;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Retrograde transport at the Trans-Golgi-Network;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Post-translational protein phosphorylation PE1 2 +NX_O43497 Voltage-dependent T-type calcium channel subunit alpha-1G 2377 262472 6.14 24 Cytoplasm;Cell membrane Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits;Spinocerebellar ataxia 42 Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1G gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by mibefradil. A particularity of this type of channel is an opening at quite negative potentials and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II. Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1G subfamily. MAPK signaling pathway;Calcium signaling pathway;Type II diabetes mellitus;NCAM1 interactions PE1 17 +NX_O43502 DNA repair protein RAD51 homolog 3 376 42190 6.28 0 Cytoplasm;Mitochondrion;Cell junction;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Perinuclear region;Nucleus Breast-ovarian cancer, familial, 3;Fanconi anemia complementation group O Essential for the homologous recombination (HR) pathway of DNA repair. Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Part of the RAD21 paralog protein complexes BCDX2 and CX3 which act at different stages of the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 seems to act downstream of BRCA2 recruitment and upstream of RAD51 recruitment; CX3 seems to act downstream of RAD51 recruitment; both complexes bind predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway. Involved in RAD51 foci formation in response to DNA damage suggesting an involvement in early stages of HR probably in the invasion step. Has an early function in DNA repair in facilitating phosphorylation of the checkpoint kinase CHEK2 and thereby transduction of the damage signal, leading to cell cycle arrest and HR activation. Participates in branch migration and HJ resolution and thus is important for processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex. Part of a PALB2-scaffolded HR complex containing BRCA2 and which is thought to play a role in DNA repair by HR. Protects RAD51 from ubiquitin-mediated degradation that is enhanced following DNA damage. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and XRCC3. Contributes to DNA cross-link resistance, sister chromatid cohesion and genomic stability. Involved in maintaining centrosome number in mitosis. NA Belongs to the RecA family. RAD51 subfamily. Homologous recombination;Fanconi anemia pathway;Factors involved in megakaryocyte development and platelet production;Meiotic recombination;HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Presynaptic phase of homologous DNA pairing and strand exchange PE1 17 +NX_O43504 Ragulator complex protein LAMTOR5 91 9614 4.69 0 Cytoplasm;Lysosome NA As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. When complexed to BIRC5, interferes with apoptosome assembly, preventing recruitment of pro-caspase-9 to oligomerized APAF1, thereby selectively suppressing apoptosis initiated via the mitochondrial/cytochrome c pathway. Down-regulates hepatitis B virus (HBV) replication. NA Belongs to the LAMTOR5 family. Macroautophagy;TP53 Regulates Metabolic Genes;Energy dependent regulation of mTOR by LKB1-AMPK;mTOR signalling;mTORC1-mediated signalling;Regulation of PTEN gene transcription PE1 1 +NX_O43505 Beta-1,4-glucuronyltransferase 1 415 47119 6.77 1 Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the glucuronyl-beta-1,4-xylose-beta disaccharide primer, which is further elongated by LARGE1, during synthesis of phosphorylated O-mannosyl glycan (PubMed:25279699, PubMed:25279697). Phosphorylated O-mannosyl glycan is a carbohydrate is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:25279699, PubMed:25279697). Required for axon guidance; via its function in O-mannosylation of alpha-dystroglycan (DAG1) (By similarity). NA Belongs to the glycosyltransferase 49 family. Protein modification; protein glycosylation.;Glycosaminoglycan biosynthesis - keratan sulfate;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;Keratan sulfate biosynthesis;O-linked glycosylation;Defective LARGE causes MDDGA6 and MDDGB6 PE1 11 +NX_O43506 Disintegrin and metalloproteinase domain-containing protein 20 726 81603 6.02 1 Membrane NA May be involved in sperm maturation and/or fertilization. Has no obvious cleavage site for furin endopeptidase, suggesting that the proteolytic processing is regulated. NA Interaction With Cumulus Cells And The Zona Pellucida PE2 14 +NX_O43508 Tumor necrosis factor ligand superfamily member 12 249 27216 9.5 1 Cytoplasmic vesicle;Secreted;Cell membrane NA Binds to FN14 and possibly also to TNRFSF12/APO3. Weak inducer of apoptosis in some cell types. Mediates NF-kappa-B activation. Promotes angiogenesis and the proliferation of endothelial cells. Also involved in induction of inflammatory cytokines. Promotes IL8 secretion. The soluble form derives from the membrane form by proteolytic processing. Belongs to the tumor necrosis factor family. Cytokine-cytokine receptor interaction;TNFR2 non-canonical NF-kB pathway;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway PE1 17 +NX_O43511 Pendrin 780 85723 6.04 12 Membrane;Cell membrane Deafness, autosomal recessive, 4;Pendred syndrome Sodium-independent transporter of chloride and iodide. NA Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. Multifunctional anion exchangers;Defective SLC26A4 causes Pendred syndrome (PDS) PE1 7 +NX_O43513 Mediator of RNA polymerase II transcription subunit 7 233 27245 5.5 0 Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Constitutively sumoylated. Belongs to the Mediator complex subunit 7 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 5 +NX_O43516 WAS/WASL-interacting protein family member 1 503 51258 11.47 0 Cell membrane;Ruffle;Cytoplasmic vesicle;Cytosol;Cytoskeleton Wiskott-Aldrich syndrome 2 Plays a role in the reorganization of the actin cytoskeleton. Contributes with NCK1 and GRB2 in the recruitment and activation of WASL. May participate in regulating the subcellular localization of WASL, resulting in the disassembly of stress fibers in favor of filopodia formation. Plays a role in the formation of cell ruffles (By similarity). Plays an important role in the intracellular motility of vaccinia virus by functioning as an adapter for recruiting WASL to vaccinia virus. NA Belongs to the verprolin family. Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs PE1 2 +NX_O43520 Phospholipid-transporting ATPase IC 1251 143695 6.77 10 Golgi apparatus;Cell membrane;Apical cell membrane;Nucleoplasm;Endoplasmic reticulum;Stereocilium;Cytosol;Nucleus Cholestasis, progressive familial intrahepatic, 1;Cholestasis, benign recurrent intrahepatic, 1;Cholestasis of pregnancy, intrahepatic 1 Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. May play a role in asymmetric distribution of phospholipids in the canicular membrane. May have a role in transport of bile acids into the canaliculus, uptake of bile acids from intestinal contents into intestinal mucosa or both. In cooperation with ABCB4 may be involved in establishing integrity of the canalicular membrane thus protecting hepatocytes from bile salts. Together with TMEM30A is involved in uptake of the synthetic drug alkylphospholipid perifosine. Involved in the microvillus formation in polarized epithelial cells; the function seems to be independent from its flippase activity. Required for the preservation of cochlear hair cells in the inner ear. May act as cardiolipin transporter during inflammatory injury. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. Ion transport by P-type ATPases PE1 18 +NX_O43521 Bcl-2-like protein 11 198 22171 8.43 0 Endomembrane system;Mitochondrion NA Is more potent than isoform BimEL.;Induce apoptosis, although less potent than isoform BimEL, isoform BimL and isoform BimS.;Induces apoptosis and anoikis.;Lack the ability to induce apoptosis.;Induces apoptosis.;Induces apoptosis possibly through a caspase-mediated pathway. Phosphorylation at Ser-69 by MAPK1/MAPK3 leads to interaction with TRIM2 and polyubiquitination, followed by proteasomal degradation (PubMed:15486195, PubMed:21478148). Deubiquitination catalyzed by USP27X stabilizes the protein (By similarity).;Ubiquitination by TRIM2 following phosphorylation by MAPK1/MAPK3 leads to proteasomal degradation. Conversely, deubiquitination catalyzed by USP27X stabilizes the protein. Belongs to the Bcl-2 family. NRAGE signals death through JNK;BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members;Activation of BIM and translocation to mitochondria;Signaling by BRAF and RAF fusions;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models;RUNX3 regulates BCL2L11 (BIM) transcription;FOXO-mediated transcription of cell death genes PE1 2 +NX_O43524 Forkhead box protein O3 673 71277 4.98 0 Mitochondrion outer membrane;Mitochondrion matrix;Nucleoplasm;Cytosol;Nucleus NA Transcriptional activator that recognizes and binds to the DNA sequence 5'-[AG]TAAA[TC]A-3' and regulates different processes, such as apoptosis and autophagy (PubMed:10102273, PubMed:16751106, PubMed:21329882). Acts as a positive regulator of autophagy in skeletal muscle: in starved cells, enters the nucleus following dephosphorylation and binds the promoters of autophagy genes, such as GABARAP1L, MAP1LC3B and ATG12, thereby activating their expression, resulting in proteolysis of skeletal muscle proteins (By similarity). Triggers apoptosis in the absence of survival factors, including neuronal cell death upon oxidative stress (PubMed:10102273, PubMed:16751106). Participates in post-transcriptional regulation of MYC: following phosphorylation by MAPKAPK5, promotes induction of miR-34b and miR-34c expression, 2 post-transcriptional regulators of MYC that bind to the 3'UTR of MYC transcript and prevent its translation (PubMed:21329882). In response to metabolic stress, translocates into the mitochondria where it promotes mtDNA transcription (PubMed:23283301). Polyubiquitinated. Ubiquitinated by a SCF complex containing SKP2, leading to proteasomal degradation.;The N-terminus is cleaved following import into the mitochondrion.;Heavily methylated by SET9 which decreases stability, while moderately increasing transcriptional activity. The main methylation site is Lys-271. Methylation doesn't affect subcellular location.;In the presence of survival factors such as IGF-1, phosphorylated on Thr-32 and Ser-253 by AKT1/PKB (PubMed:10102273). This phosphorylated form then interacts with 14-3-3 proteins and is retained in the cytoplasm (PubMed:10102273). Survival factor withdrawal induces dephosphorylation and promotes translocation to the nucleus where the dephosphorylated protein induces transcription of target genes and triggers apoptosis (PubMed:10102273). Although AKT1/PKB doesn't appear to phosphorylate Ser-315 directly, it may activate other kinases that trigger phosphorylation at this residue (PubMed:10102273, PubMed:11154281). Phosphorylated by STK4/MST1 on Ser-209 upon oxidative stress, which leads to dissociation from YWHAB/14-3-3-beta and nuclear translocation (PubMed:16751106). Phosphorylated by PIM1 (PubMed:18593906). Phosphorylation by AMPK leads to the activation of transcriptional activity without affecting subcellular localization (PubMed:17711846). In response to metabolic stress, phosphorylated by AMPK on Ser-30 which mediates FOXO3 mitochondrial translocation (PubMed:29445193). Phosphorylation by MAPKAPK5 promotes nuclear localization and DNA-binding, leading to induction of miR-34b and miR-34c expression, 2 post-transcriptional regulators of MYC that bind to the 3'UTR of MYC transcript and prevent its translation (PubMed:21329882). Phosphorylated by CHUK/IKKA and IKBKB/IKKB (PubMed:15084260). TNF-induced inactivation of FOXO3 requires its phosphorylation at Ser-644 by IKBKB/IKKB which promotes FOXO3 retention in the cytoplasm, polyubiquitination and ubiquitin-mediated proteasomal degradation (PubMed:15084260). May be dephosphorylated by calcineurin A on Ser-299 which abolishes FOXO3 transcriptional activity (By similarity). In cancer cells, ERK mediated-phosphorylation of Ser-12 is required for mitochondrial translocation of FOXO3 in response to metabolic stress or chemotherapeutic agents (PubMed:29445193).;Deacetylation by SIRT1 or SIRT2 stimulates interaction of FOXO3 with SKP2 and facilitates SCF(SKP2)-mediated FOXO3 ubiquitination and proteasomal degradation (PubMed:21841822). Deacetylation by SIRT2 stimulates FOXO3-mediated transcriptional activity in response to oxidative stress (By similarity). Deacetylated by SIRT3 (PubMed:23283301). Deacetylation by SIRT3 stimulates FOXO3-mediated mtDNA transcriptional activity in response to metabolic stress (PubMed:23283301). NA Chemokine signaling pathway;Neurotrophin signaling pathway;Endometrial cancer;Non-small cell lung cancer;MAPK6/MAPK4 signaling;AKT phosphorylates targets in the nucleus;Constitutive Signaling by AKT1 E17K in Cancer;Signaling by NODAL;Interleukin-4 and Interleukin-13 signaling;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models;RUNX3 regulates BCL2L11 (BIM) transcription;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes;FOXO-mediated transcription of cell death genes;Estrogen-dependent nuclear events downstream of ESR-membrane signaling;Regulation of localization of FOXO transcription factors;Regulation of FOXO transcriptional activity by acetylation;FOXO-mediated transcription of cell cycle genes PE1 6 +NX_O43525 Potassium voltage-gated channel subfamily KQT member 3 872 96742 8.98 6 Cell membrane Seizures, benign familial neonatal 2 Associates with KCNQ2 or KCNQ5 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Therefore, it is important in the regulation of neuronal excitability. KCNQ2/KCNQ3 are ubiquitinated by NEDD4L. Ubiquitination leads to protein degradation (Probable). Degradation induced by NEDD4L is inhibited by USP36 (PubMed:27445338). Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.3/KCNQ3 sub-subfamily. Cholinergic synapse;Voltage gated Potassium channels;Interaction between L1 and Ankyrins PE1 8 +NX_O43526 Potassium voltage-gated channel subfamily KQT member 2 872 95848 9.35 6 Endoplasmic reticulum;Cell membrane Seizures, benign familial neonatal 1;Epileptic encephalopathy, early infantile, 7 Associates with KCNQ3 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Therefore, it is important in the regulation of neuronal excitability. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991, and activated by the anticonvulsant retigabine (PubMed:9836639, PubMed:11572947, PubMed:14534157, PubMed:12742592, PubMed:17872363). As the native M-channel, the potassium channel composed of KCNQ2 and KCNQ3 is also suppressed by activation of the muscarinic acetylcholine receptor CHRM1 (PubMed:10684873). KCNQ2/KCNQ3 heteromeric current can be increased by intracellular cyclic AMP, an effect that depends on phosphorylation of Ser-52 in the N-terminal region.;KCNQ2/KCNQ3 are ubiquitinated by NEDD4L. Ubiquitination leads to protein degradation (Probable). Degradation induced by NEDD4L is inhibited by USP36 (PubMed:27445338). Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.2/KCNQ2 sub-subfamily. Cholinergic synapse;Voltage gated Potassium channels;Interaction between L1 and Ankyrins PE1 20 +NX_O43529 Carbohydrate sulfotransferase 10 356 42207 8.11 1 Cytosol;Golgi apparatus membrane NA Catalyzes the transfer of sulfate to position 3 of terminal glucuronic acid of both protein- and lipid-linked oligosaccharides. Participates in biosynthesis of HNK-1 carbohydrate structure, a sulfated glucuronyl-lactosaminyl residue carried by many neural recognition molecules, which is involved in cell interactions during ontogenetic development and in synaptic plasticity in the adult. May be indirectly involved in synapse plasticity of the hippocampus, via its role in HNK-1 biosynthesis. NA Belongs to the sulfotransferase 2 family. Other types of O-glycan biosynthesis;Reactions specific to the complex N-glycan synthesis pathway PE1 2 +NX_O43541 Mothers against decapentaplegic homolog 6 496 53497 8.46 0 Golgi apparatus;Nucleoplasm;Nucleus Craniosynostosis 7;Aortic valve disease 2 Acts as a mediator of TGF-beta and BMP antiflammatory activity. Suppresses IL1R-TLR signaling through its direct interaction with PEL1, preventing NF-kappa-B activation, nuclear transport and NF-kappa-B-mediated expression of proinflammatory genes. May block the BMP-SMAD1 signaling pathway by competing with SMAD4 for receptor-activated SMAD1-binding. Binds to regulatory elements in target promoter regions. Phosphorylated by BMP type 1 receptor kinase and by PRKX.;Arginine methylation by PRMT1, which is recruited by BMPR2, initiates BMP-Induced signaling and induces dissociation from the BMPR1B receptor at the cell surface leading to derepress downstream Smad1/Smad5 signaling.;Monoubiquitinated at Lys-173 by the E2/E3 hybrid ubiquitin-protein ligase UBE2O, leading to reduced binding affinity for the activated BMP type I receptor ACVR1/ALK2, thereby enhancing BMP7 and regulating adipocyte differentiation (PubMed:23455153). Ubiquitinated by WWP1 (By similarity). Ubiquitinated by RNF165, promoting proteasomal degradation, leading to enhance the BMP-Smad signaling (By similarity). Belongs to the dwarfin/SMAD family. Endocytosis;TGF-beta signaling pathway;Signaling by BMP;RUNX2 regulates bone development PE1 15 +NX_O43542 DNA repair protein XRCC3 346 37850 8.81 0 Cytoplasm;Mitochondrion;Nucleoplasm;Perinuclear region;Nucleus Breast cancer;Melanoma, cutaneous malignant 6 Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD21 paralog protein complex CX3 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, CX3 acts downstream of RAD51 recruitment; the complex binds predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junctions of replication forks. Involved in HJ resolution and thus in processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex and seems to involve GEN1 during mitotic cell cycle progression. Part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C and which is thought to play a role in DNA repair by HR. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and RAD51C. NA Belongs to the RecA family. RAD51 subfamily. Homologous recombination;HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange PE1 14 +NX_O43543 DNA repair protein XRCC2 280 31956 5.67 0 Nucleoplasm;Centrosome;Nucleus;Cytoplasmic vesicle Fanconi anemia, complementation group U Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the Rad21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. NA Belongs to the RecA family. RAD51 subfamily. Homologous recombination;HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Presynaptic phase of homologous DNA pairing and strand exchange PE1 7 +NX_O43548 Protein-glutamine gamma-glutamyltransferase 5 720 80778 6.01 0 Cytoplasm Peeling skin syndrome 2 Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes. NA Belongs to the transglutaminase superfamily. Transglutaminase family. Formation of the cornified envelope PE1 15 +NX_O43555 Progonadoliberin-2 120 12918 11.12 0 Secreted NA Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones. NA Belongs to the GnRH family. GnRH signaling pathway;G alpha (q) signalling events;Hormone ligand-binding receptors PE2 20 +NX_O43556 Epsilon-sarcoglycan 437 49851 6.12 1 Golgi apparatus;Cell membrane;Nucleoplasm;Sarcolemma;Cytoplasmic vesicle;Dendrite;Cytoskeleton Dystonia 11, myoclonic Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. Ubiquitinated, leading to its degradation by the proteasome.;N-glycosylated. Belongs to the sarcoglycan alpha/epsilon family. NA PE1 7 +NX_O43557 Tumor necrosis factor ligand superfamily member 14 240 26350 9.09 1 Cytoplasm;Secreted;Cell membrane NA Cytokine that binds to TNFRSF3/LTBR. Binding to the decoy receptor TNFRSF6B modulates its effects. Acts as a ligand for TNFRSF14/HVEM (PubMed:9462508, PubMed:10754304). Upon binding to TNFRSF14/HVEM, delivers costimulatory signals to T cells, leading to T cell proliferation and IFNG production (PubMed:10754304). N-glycosylated.;The soluble form of isoform 1 derives from the membrane form by proteolytic processing. Belongs to the tumor necrosis factor family. Cytokine-cytokine receptor interaction;Herpes simplex infection;TNFR2 non-canonical NF-kB pathway;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway;TNFs bind their physiological receptors PE1 19 +NX_O43559 Fibroblast growth factor receptor substrate 3 492 54462 6.81 0 Membrane;Nucleoplasm NA Adapter protein that links FGF and NGF receptors to downstream signaling pathways. Involved in the activation of MAP kinases. Down-regulates ERK2 signaling by interfering with the phosphorylation and nuclear translocation of ERK2. Phosphorylated by ULK2 in vitro (By similarity). Phosphorylated on tyrosine residues upon stimulation by BFGF or NGFB.;FRS3 is phosphorylated by ULK2 NA RAF/MAP kinase cascade;FRS-mediated FGFR1 signaling;FRS-mediated FGFR2 signaling;FRS-mediated FGFR3 signaling;FRS-mediated FGFR4 signaling;Activated NTRK2 signals through FRS2 and FRS3 PE1 6 +NX_O43561 Linker for activation of T-cells family member 1 262 27930 4.27 1 Golgi apparatus;Cell membrane Immunodeficiency 52 Required for TCR (T-cell antigen receptor)- and pre-TCR-mediated signaling, both in mature T-cells and during their development. Involved in FCGR3 (low affinity immunoglobulin gamma Fc region receptor III)-mediated signaling in natural killer cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Couples activation of these receptors and their associated kinases with distal intracellular events such as mobilization of intracellular calcium stores, PKC activation, MAPK activation or cytoskeletal reorganization through the recruitment of PLCG1, GRB2, GRAP2, and other signaling molecules. Palmitoylation of Cys-26 and Cys-29 is required for raft targeting and efficient phosphorylation.;Phosphorylated on tyrosines by ZAP70 upon TCR activation, or by SYK upon other immunoreceptor activation; which leads to the recruitment of multiple signaling molecules. Is one of the most prominently tyrosine-phosphorylated proteins detected following TCR engagement. May be dephosphorylated by PTPRJ. Phosphorylated by ITK leading to the recruitment of VAV1 to LAT-containing complexes.;LAT is phosphorylated by ABL1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;RAF/MAP kinase cascade;Generation of second messenger molecules;GPVI-mediated activation cascade;DAP12 signaling;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Fc epsilon receptor (FCERI) signaling PE1 16 +NX_O43566 Regulator of G-protein signaling 14 566 61447 8.46 0 Cytoplasm;Dendritic spine;Cell membrane;Membrane;Nucleoplasm;Spindle pole;Centrosome;Postsynaptic density;PML body;Cytoplasmic vesicle;Spindle;Dendrite;Nucleus;Cytoskeleton NA Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Besides, modulates signal transduction via G protein alpha subunits by functioning as a GDP-dissociation inhibitor (GDI). Has GDI activity on G(i) alpha subunits GNAI1 and GNAI3, but not on GNAI2 and G(o) alpha subunit GNAO1. Has GAP activity on GNAI0, GNAI2 and GNAI3. May act as a scaffold integrating G protein and Ras/Raf MAPkinase signaling pathways. Inhibits platelet-derived growth factor (PDGF)-stimulated ERK1/ERK2 phosphorylation; a process depending on its interaction with HRAS and that is reversed by G(i) alpha subunit GNAI1. Acts as a positive modulator of microtubule polymerisation and spindle organization through a G(i)-alpha-dependent mechanism. Plays a role in cell division. Required for the nerve growth factor (NGF)-mediated neurite outgrowth. Involved in stress resistance. May be involved in visual memory processing capacity and hippocampal-based learning and memory. Phosphorylated by PKC. Phosphorylation is increased in presence of forskolin and may enhance the GDI activity on G(i) alpha subunit GNAI1 (By similarity). NA G alpha (i) signalling events PE1 5 +NX_O43567 E3 ubiquitin-protein ligase RNF13 381 42814 4.83 1 Endoplasmic reticulum membrane;Lysosome membrane;Nucleoplasm;Nucleus inner membrane;Golgi apparatus membrane;Cytoplasmic vesicle;Cytosol;Late endosome membrane Epileptic encephalopathy, early infantile, 73 E3 ubiquitin-protein ligase that may play a role in controlling cell proliferation. Involved in apoptosis regulation. Mediates ER stress-induced activation of JNK signaling pathway and apoptosis by promoting ERN1 activation and splicing of XBP1 mRNA (PubMed:23378536, PubMed:30595371). Auto-ubiquitinated. NA Protein modification; protein ubiquitination. PE1 3 +NX_O43570 Carbonic anhydrase 12 354 39451 6.73 1 Membrane;Nucleoplasm;Cell membrane;Cytoplasmic vesicle Hyperchlorhidrosis, isolated Reversible hydration of carbon dioxide. NA Belongs to the alpha-carbonic anhydrase family. Nitrogen metabolism;Reversible hydration of carbon dioxide PE1 15 +NX_O43572 A-kinase anchor protein 10, mitochondrial 662 73818 5.96 0 Cytoplasm;Mitochondrion;Cell membrane;Membrane;Cytosol Sudden cardiac death Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not fully understood, one idea is that BAD, a proapoptotic member, is phosphorylated and inactivated by mitochondria-anchored PKA. It cannot be excluded too that it may facilitate PKA as well as G protein signal transduction, by acting as an adapter for assembling multiprotein complexes. With its RGS domain, it could lead to the interaction to G-alpha proteins, providing a link between the signaling machinery and the downstream kinase (By similarity). NA NA Factors involved in megakaryocyte development and platelet production PE1 17 +NX_O43581 Synaptotagmin-7 403 45501 9.29 1 Presynaptic cell membrane;Cell membrane;Phagosome membrane;Peroxisome membrane;Lysosome membrane;Synaptic vesicle membrane;Secretory vesicle membrane NA Ca(2+) sensor involved in Ca(2+)-dependent exocytosis of secretory and synaptic vesicles through Ca(2+) and phospholipid binding to the C2 domain (By similarity). Ca(2+) induces binding of the C2-domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis (By similarity). SYT7 binds Ca(2+) with high affinity and slow kinetics compared to other synaptotagmins (By similarity). Involved in Ca(2+)-triggered lysosomal exocytosis, a major component of the plasma membrane repair (PubMed:11342594). Ca(2+)-regulated delivery of lysosomal membranes to the cell surface is also involved in the phagocytic uptake of particles by macrophages (By similarity). Ca(2+)-triggered lysosomal exocytosis also plays a role in bone remodeling by regulating secretory pathways in osteoclasts and osteoblasts (By similarity). In case of infection, involved in participates cell invasion by Trypanosoma cruzi via Ca(2+)-triggered lysosomal exocytosis (PubMed:11342594, PubMed:15811535). Involved in cholesterol transport from lysosome to peroxisome by promoting membrane contacts between lysosomes and peroxisomes: probably acts by promoting vesicle fusion by binding phosphatidylinositol-4,5-bisphosphate on peroxisomal membranes (By similarity). Acts as a key mediator of synaptic facilitation, a process also named short-term synaptic potentiation: synaptic facilitation takes place at synapses with a low initial release probability and is caused by influx of Ca(2+) into the axon terminal after spike generation, increasing the release probability of neurotransmitters (By similarity). Probably mediates synaptic facilitation by directly increasing the probability of release (By similarity). May also contribute to synaptic facilitation by regulating synaptic vesicle replenishment, a process required to ensure that synaptic vesicles are ready for the arrival of the next action potential: SYT7 is required for synaptic vesicle replenishment by acting as a sensor for Ca(2+) and by forming a complex with calmodulin (By similarity). Also acts as a regulator of Ca(2+)-dependent insulin and glucagon secretion in beta-cells (By similarity). Triggers exocytosis by promoting fusion pore opening and fusion pore expansion in chromaffin cells (By similarity). Also regulates the secretion of some non-synaptic secretory granules of specialized cells (By similarity). Palmitoylated at its vesicular N-terminus; palmitoylation is required for localization to lysosome and phagocytosis in macrophages. Belongs to the synaptotagmin family. Neurexins and neuroligins PE1 11 +NX_O43583 Density-regulated protein 198 22092 5.21 0 Cytosol NA May be involved in the translation of target mRNAs by scanning and recognition of the initiation codon. Involved in translation initiation; promotes recruitmnet of aminoacetyled initiator tRNA to P site of 40S ribosomes. Can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated dissociation of post-termination ribosomal complexes into subunits. Plays a role in the modulation of the translational profile of a subset of cancer-related mRNAs when recruited to the translational initiation complex by the oncogene MCTS1. NA Belongs to the DENR family. NA PE1 12 +NX_O43586 Proline-serine-threonine phosphatase-interacting protein 1 416 47591 5.35 0 Cytoplasm;Cleavage furrow;Cell membrane;Lamellipodium;Uropodium;Perinuclear region;Cytoskeleton PAPA syndrome Involved in regulation of the actin cytoskeleton. May regulate WAS actin-bundling activity. Bridges the interaction between ABL1 and PTPN18 leading to ABL1 dephosphorylation. May play a role as a scaffold protein between PTPN12 and WAS and allow PTPN12 to dephosphorylate WAS. Has the potential to physically couple CD2 and CD2AP to WAS. Acts downstream of CD2 and CD2AP to recruit WAS to the T-cell:APC contact site so as to promote the actin polymerization required for synapse induction during T-cell activation (By similarity). Down-regulates CD2-stimulated adhesion through the coupling of PTPN12 to CD2. Also has a role in innate immunity and the inflammatory response. Recruited to inflammasomes by MEFV. Induces formation of pyroptosomes, large supramolecular structures composed of oligomerized PYCARD dimers which form prior to inflammatory apoptosis. Binding to MEFV allows MEFV to bind to PYCARD and facilitates pyroptosome formation. Regulates endocytosis and cell migration in neutrophils. Dephosphorylated on Tyr-345 by PTPN18, this event negatively regulates the association of PSTPIP1 with SH2 domain-containing proteins as tyrosine kinase. Phosphorylation of Tyr-345 is probably required for subsequent phosphorylation at other tyrosine residues. Phosphorylation is induced by activation of the EGFR and PDGFR in a ABL1 dependent manner. The phosphorylation regulates the interaction with WAS and with MEFV (By similarity). NA NOD-like receptor signaling pathway;The NLRP3 inflammasome PE1 15 +NX_O43592 Exportin-T 962 109964 5.24 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Mediates the nuclear export of aminoacylated tRNAs. In the nucleus binds to tRNA and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the tRNA from the export receptor. XPOT then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. NA Belongs to the exportin family. RNA transport;tRNA processing in the nucleus PE1 12 +NX_O43593 Lysine-specific demethylase hairless 1189 127495 6.67 0 Nucleoplasm;Nucleus Alopecia universalis congenita;Hypotrichosis 4;Atrichia with papular lesions Histone demethylase that specifically demethylates both mono- and dimethylated 'Lys-9' of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural activity, and cell cycle. NA NA NA PE1 8 +NX_O43597 Protein sprouty homolog 2 315 34688 8.78 0 Ruffle membrane;Endosome;Cytoskeleton IgA nephropathy 3 May function as an antagonist of fibroblast growth factor (FGF) pathways and may negatively modulate respiratory organogenesis. Cleaved at Pro-144 by the prolyl endopeptidase FAP (seprase) activity (in vitro). Belongs to the sprouty family. Jak-STAT signaling pathway;EGFR downregulation;Spry regulation of FGF signaling PE1 13 +NX_O43598 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 174 19108 4.97 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Catalyzes the cleavage of the N-glycosidic bond of deoxyribonucleoside 5'-monophosphates to yield deoxyribose 5-phosphate and a purine or pyrimidine base. Deoxyribonucleoside 5'-monophosphates containing purine bases are preferred to those containing pyrimidine bases. NA Belongs to the 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 family. Purine catabolism PE1 6 +NX_O43602 Neuronal migration protein doublecortin 365 40574 9.33 0 Neuron projection;Cytoplasm;Cytosol Subcortical band heterotopia X-linked;Lissencephaly, X-linked 1 Microtubule-associated protein required for initial steps of neuronal dispersion and cortex lamination during cerebral cortex development. May act by competing with the putative neuronal protein kinase DCLK1 in binding to a target protein. May in that way participate in a signaling pathway that is crucial for neuronal interaction before and during migration, possibly as part of a calcium ion-dependent signal transduction pathway. May be part with PAFAH1B1/LIS-1 of overlapping, but distinct, signaling pathways that promote neuronal migration. Ubiquitinated by MDM2, leading to its degradation by the proteasome. Ubiquitinated by MDM2 and subsequent degradation leads to reduce the dendritic spine density of olfactory bulb granule cells.;Phosphorylation by MARK1, MARK2 and PKA regulates its ability to bind microtubules (By similarity). Phosphorylation at Ser-265 and Ser-297 seems to occur only in neonatal brain, the levels falling precipitously by postnatal day 21 (By similarity). NA Neurofascin interactions PE1 X +NX_O43603 Galanin receptor type 2 387 41700 9.6 7 Cell membrane NA Receptor for the hormone galanin and GALP. Receptor for the hormone spexin-1 (PubMed:24517231). The activity of this receptor is mediated by G proteins that activate the phospholipase C/protein kinase C pathway (via G(q)) and that inhibit adenylyl cyclase (via G(i)). NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors PE1 17 +NX_O43609 Protein sprouty homolog 1 319 35122 8.65 0 Cytoplasm;Golgi apparatus;Membrane;Nucleoplasm;Cytosol NA May function as an antagonist of fibroblast growth factor (FGF) pathways and may negatively modulate respiratory organogenesis. NA Belongs to the sprouty family. Jak-STAT signaling pathway;EGFR downregulation PE1 4 +NX_O43610 Protein sprouty homolog 3 288 31222 7.4 0 Membrane;Cytoplasm;Cytosol;Nucleolus NA May function as an antagonist of fibroblast growth factor (FGF) pathways and may negatively modulate respiratory organogenesis. NA Belongs to the sprouty family. Jak-STAT signaling pathway PE1 X +NX_O43612 Orexin 131 13363 10.8 0 Cytoplasmic vesicle;Synapse;Rough endoplasmic reticulum Narcolepsy 1 Neuropeptides that play a significant role in the regulation of food intake and sleep-wakefulness, possibly by coordinating the complex behavioral and physiologic responses of these complementary homeostatic functions. A broader role in the homeostatic regulation of energy metabolism, autonomic function, hormonal balance and the regulation of body fluids, is also suggested. Orexin-A binds to both OX1R and OX2R with a high affinity, whereas orexin-B binds only to OX2R with a similar high affinity. Specific enzymatic cleavages at paired basic residues yield the different active peptides. Belongs to the orexin family. G alpha (q) signalling events;Orexin and neuropeptides FF and QRFP bind to their respective receptors PE1 17 +NX_O43613 Orexin receptor type 1 425 47536 9.3 7 Cell membrane NA Moderately selective excitatory receptor for orexin-A and, with a lower affinity, for orexin-B neuropeptide (PubMed:9491897, PubMed:26950369). Triggers an increase in cytoplasmic Ca(2+) levels in response to orexin-A binding (PubMed:9491897, PubMed:26950369). NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (q) signalling events;Orexin and neuropeptides FF and QRFP bind to their respective receptors PE1 1 +NX_O43614 Orexin receptor type 2 444 50694 8.99 7 Cell membrane NA Nonselective, high-affinity receptor for both orexin-A and orexin-B neuropeptides (PubMed:9491897, PubMed:26950369). Triggers an increase in cytoplasmic Ca(2+) levels in response to orexin-A binding (PubMed:9491897, PubMed:26950369). NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (q) signalling events;Orexin and neuropeptides FF and QRFP bind to their respective receptors PE1 6 +NX_O43615 Mitochondrial import inner membrane translocase subunit TIM44 452 51356 8.51 0 Mitochondrion matrix;Mitochondrion inner membrane;Mitochondrion NA Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Recruits mitochondrial HSP70 to drive protein translocation into the matrix using ATP as an energy source. NA Belongs to the Tim44 family. Mitochondrial protein import PE1 19 +NX_O43617 Trafficking protein particle complex subunit 3 180 20274 4.88 0 Endoplasmic reticulum;Golgi apparatus;Cytosol;cis-Golgi network NA May play a role in vesicular transport from endoplasmic reticulum to Golgi. NA Belongs to the TRAPP small subunits family. BET3 subfamily. COPII-mediated vesicle transport;RAB GEFs exchange GTP for GDP on RABs PE1 1 +NX_O43623 Zinc finger protein SNAI2 268 29986 9.01 0 Nucleoplasm;Cytoplasm;Nucleus Waardenburg syndrome 2D;Piebald trait Transcriptional repressor that modulates both activator-dependent and basal transcription. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By similarity). Represses BRCA2 expression by binding to its E2-box-containing silencer and recruiting CTBP1 and HDAC1 in breast cells. In epidermal keratinocytes, binds to the E-box in ITGA3 promoter and represses its transcription. Involved in the regulation of ITGB1 and ITGB4 expression and cell adhesion and proliferation in epidermal keratinocytes. Binds to E-box2 domain of BSG and activates its expression during TGFB1-induced epithelial-mesenchymal transition (EMT) in hepatocytes. Represses E-Cadherin/CDH1 transcription via E-box elements. Involved in osteoblast maturation. Binds to RUNX2 and SOC9 promoters and may act as a positive and negative transcription regulator, respectively, in osteoblasts. Binds to CXCL12 promoter via E-box regions in mesenchymal stem cells and osteoblasts. Plays an essential role in TWIST1-induced EMT and its ability to promote invasion and metastasis. GSK3B-mediated phosphorylation results in cytoplasmic localization and degradation. Belongs to the snail C2H2-type zinc-finger protein family. Regulation of PTEN gene transcription PE1 8 +NX_O43633 Charged multivesicular body protein 2a 222 25104 5.87 0 Nucleoplasm;Cytosol;Late endosome membrane;Cell membrane NA (Microbial infection) The ESCRT machinery functions in topologically equivalent membrane fission events, such as the budding of enveloped viruses (HIV-1 and other lentiviruses). Involved in HIV-1 p6- and p9-dependent virus release.;Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis (PubMed:21310966). Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. ISGylated in a CHMP5-dependent manner. Isgylation weakens and inhibits its interactions with VPS4A and VTA1 respectively. Belongs to the SNF7 family. Endocytosis;Macroautophagy;Budding and maturation of HIV virion;Endosomal Sorting Complex Required For Transport (ESCRT);Lysosome Vesicle Biogenesis;Microautophagy PE1 19 +NX_O43638 Forkhead box protein S1 330 35434 9.28 0 Nucleoplasm;Cytosol;Nucleus NA Transcriptional repressor that suppresses transcription from the FASLG, FOXO3 and FOXO4 promoters. May have a role in the organization of the testicular vasculature (By similarity). NA NA NA PE1 20 +NX_O43639 Cytoplasmic protein NCK2 380 42915 6.49 0 Endoplasmic reticulum;Cytoplasm NA Adapter protein which associates with tyrosine-phosphorylated growth factor receptors or their cellular substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a role in ELK1-dependent transcriptional activation in response to activated Ras signaling. Phosphorylated. NA ErbB signaling pathway;Axon guidance;T cell receptor signaling pathway;Pathogenic Escherichia coli infection;Ephrin signaling;VEGFA-VEGFR2 Pathway;Nephrin family interactions;Activation of RAC1;Downstream signal transduction;Regulation of cortical dendrite branching PE1 2 +NX_O43653 Prostate stem cell antigen 114 11959 4.75 0 Cell membrane NA May be involved in the regulation of cell proliferation. Has a cell-proliferation inhibition activity in vitro.;May act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits nicotine-induced signaling probably implicating alpha-3:beta-2- or alpha-7-containing nAChRs. N-glycosylated. NA Post-translational modification: synthesis of GPI-anchored proteins PE1 8 +NX_O43657 Tetraspanin-6 245 27563 8.44 4 Membrane;Cytosol;Cell junction;Nucleolus NA NA NA Belongs to the tetraspanin (TM4SF) family. NA PE1 X +NX_O43660 Pleiotropic regulator 1 514 57194 9.24 0 Nucleus speckle;Nucleus membrane;Nucleus NA Involved in pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:28076346). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing (PubMed:11101529, PubMed:11544257). NA Belongs to the WD repeat PRL1/PRL2 family. Spliceosome;mRNA Splicing - Major Pathway PE1 4 +NX_O43663 Protein regulator of cytokinesis 1 620 71607 6.29 0 Cytoplasm;Cell membrane;Nucleoplasm;Spindle pole;Nucleus;Midbody;Cytoskeleton NA Key regulator of cytokinesis that cross-links antiparrallel microtubules at an average distance of 35 nM. Essential for controlling the spatiotemporal formation of the midzone and successful cytokinesis. Required for KIF14 localization to the central spindle and midbody. Required to recruit PLK1 to the spindle. Stimulates PLK1 phosphorylation of RACGAP1 to allow recruitment of ECT2 to the central spindle. Acts as an oncogene for promoting bladder cancer cells proliferation, apoptosis inhibition and carcinogenic progression (PubMed:17409436). Phosphorylation by CDK1 in early mitosis holds PRC1 in an inactive monomeric state, during the metaphase to anaphase transition, PRC1 is dephosphorylated, promoting interaction with KIF4A, which then translocates PRC1 along mitotic spindles to the plus ends of antiparallel interdigitating microtubules. Dephosphorylation also promotes MT-bundling activity by allowing dimerization. Phosphorylation by CDK1 prevents PLK1-binding: upon degradation of CDK1 at anaphase and dephosphorylation, it is then phosphorylated by PLK1, leading to cytokinesis. Belongs to the MAP65/ASE1 family. RHO GTPases activate CIT PE1 15 +NX_O43665 Regulator of G-protein signaling 10 181 21210 6.93 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Regulates G protein-coupled receptor signaling cascades, including signaling downstream of the muscarinic acetylcholine receptor CHRM2. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:8774883, PubMed:10608901, PubMed:9353196, PubMed:11443111, PubMed:18434541). Modulates the activity of potassium channels that are activated in response to CHRM2 signaling (PubMed:11443111). Activity on GNAZ is inhibited by palmitoylation of the G-protein (PubMed:9353196). NA NA G alpha (i) signalling events PE1 10 +NX_O43670 BUB3-interacting and GLEBS motif-containing protein ZNF207 478 50751 9.19 0 Kinetochore;Nucleoplasm;Spindle;Nucleus NA Kinetochore- and microtubule-binding protein that plays a key role in spindle assembly (PubMed:24462186, PubMed:24462187, PubMed:26388440). ZNF207/BuGZ is mainly composed of disordered low-complexity regions and undergoes phase transition or coacervation to form temperature-dependent liquid droplets. Coacervation promotes microtubule bundling and concentrates tubulin, promoting microtubule polymerization and assembly of spindle and spindle matrix by concentrating its building blocks (PubMed:26388440). Also acts as a regulator of mitotic chromosome alignment by mediating the stability and kinetochore loading of BUB3 (PubMed:24462186, PubMed:24462187). Mechanisms by which BUB3 is protected are unclear: according to a first report, ZNF207/BuGZ may act by blocking ubiquitination and proteasomal degradation of BUB3 (PubMed:24462186). According to another report, the stabilization is independent of the proteasome (PubMed:24462187). NA NA NA PE1 17 +NX_O43674 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial 189 21750 9.62 1 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion NA Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFB5 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 3 +NX_O43676 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 98 11402 9.19 1 Mitochondrion inner membrane Mitochondrial complex I deficiency, nuclear type 25 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFB3 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 2 +NX_O43677 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial 76 8734 10.2 1 Mitochondrion inner membrane;Mitochondrion;Cell membrane NA Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFC1 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 4 +NX_O43678 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 99 10922 9.62 0 Mitochondrion inner membrane Mitochondrial complex I deficiency, nuclear type 13 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFA2 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 5 +NX_O43679 LIM domain-binding protein 2 373 42793 6.47 0 Nucleoplasm;Nucleus;Nucleolus;Cell membrane NA Binds to the LIM domain of a wide variety of LIM domain-containing transcription factors. Ubiquitinated by RLIM/RNF12, leading to its degradation by the proteasome. Belongs to the LDB family. NA PE1 4 +NX_O43680 Transcription factor 21 179 19715 9.15 0 Nucleus NA Involved in epithelial-mesenchymal interactions in kidney and lung morphogenesis that include epithelial differentiation and branching morphogenesis. May play a role in the specification or differentiation of one or more subsets of epicardial cell types. NA NA NA PE2 6 +NX_O43681 ATPase ASNA1 348 38793 4.81 0 Endoplasmic reticulum;Nucleoplasm;Cytoplasm;Nucleolus NA ATPase required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum. Recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol. This complex then targets to the endoplasmic reticulum by membrane-bound receptors, where the tail-anchored protein is released for insertion. This process is regulated by ATP binding and hydrolysis. ATP binding drives the homodimer towards the closed dimer state, facilitating recognition of newly synthesized TA membrane proteins. ATP hydrolysis is required for insertion. Subsequently, the homodimer reverts towards the open dimer state, lowering its affinity for the membrane-bound receptor, and returning it to the cytosol to initiate a new round of targeting (By similarity). May be involved in insulin signaling. NA Belongs to the arsA ATPase family. Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 19 +NX_O43683 Mitotic checkpoint serine/threonine-protein kinase BUB1 1085 122375 6.03 0 Kinetochore;Nucleoplasm;Cytosol;Nucleus NA Serine/threonine-protein kinase that performs 2 crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Has a key role in the assembly of checkpoint proteins at the kinetochore, being required for the subsequent localization of CENPF, BUB1B, CENPE and MAD2L1. Required for the kinetochore localization of PLK1. Required for centromeric enrichment of AUKRB in prometaphase. Plays an important role in defining SGO1 localization and thereby affects sister chromatid cohesion. Acts as a substrate for anaphase-promoting complex or cyclosome (APC/C) in complex with its activator CDH1 (APC/C-Cdh1). Necessary for ensuring proper chromosome segregation and binding to BUB3 is essential for this function. Can regulate chromosome segregation in a kinetochore-independent manner. Can phosphorylate BUB3. The BUB1-BUB3 complex plays a role in the inhibition of APC/C when spindle-assembly checkpoint is activated and inhibits the ubiquitin ligase activity of APC/C by phosphorylating its activator CDC20. This complex can also phosphorylate MAD1L1. Kinase activity is essential for inhibition of APC/CCDC20 and for chromosome alignment but does not play a major role in the spindle-assembly checkpoint activity. Mediates cell death in response to chromosome missegregation and acts to suppress spontaneous tumorigenesis. Ubiquitinated and degraded during mitotic exit by APC/C-Cdh1.;Upon spindle-assembly checkpoint activation it is hyperphosphorylated and its kinase activity toward CDC20 is stimulated. Phosphorylation at Thr-609 is required for interaction with PLK1, phosphorylation at this site probably creates a binding site for the POLO-box domain of PLK1, thus enhancing the PLK1-BUB1 interaction.;BUB1 is phosphorylated by PLK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. BUB1 subfamily. Cell cycle;Oocyte meiosis;Progesterone-mediated oocyte maturation;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 2 +NX_O43684 Mitotic checkpoint protein BUB3 328 37155 6.36 0 Kinetochore;Nucleoplasm;Nucleus NA Has a dual function in spindle-assembly checkpoint signaling and in promoting the establishment of correct kinetochore-microtubule (K-MT) attachments. Promotes the formation of stable end-on bipolar attachments. Necessary for kinetochore localization of BUB1. Regulates chromosome segregation during oocyte meiosis. The BUB1/BUB3 complex plays a role in the inhibition of anaphase-promoting complex or cyclosome (APC/C) when spindle-assembly checkpoint is activated and inhibits the ubiquitin ligase activity of APC/C by phosphorylating its activator CDC20. This complex can also phosphorylate MAD1L1. Poly-ADP-ribosylated by PARP1. Belongs to the WD repeat BUB3 family. Cell cycle;HTLV-I infection;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of mitotic proteins;APC-Cdc20 mediated degradation of Nek2A;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 10 +NX_O43687 A-kinase anchor protein 7 isoforms alpha and beta 104 11465 4.89 0 Apical cell membrane;Lateral cell membrane NA Targets the cAMP-dependent protein kinase (PKA) to the plasma membrane, and permits functional coupling to the L-type calcium channel. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium. NA NA NA PE1 6 +NX_O43688 Phospholipid phosphatase 2 288 32574 8.65 6 Membrane;Mitochondrion NA Catalyzes the conversion of phosphatidic acid (PA) to diacylglycerol (DG). In addition it hydrolyzes lysophosphatidic acid (LPA), ceramide-1-phosphate (C-1-P) and sphingosine-1-phosphate (S-1-P). The relative catalytic efficiency is PA > C-1-P > LPA > S-1-P. NA Belongs to the PA-phosphatase related phosphoesterase family. Glycerolipid metabolism;Glycerophospholipid metabolism;Ether lipid metabolism;Sphingolipid metabolism;Metabolic pathways;Fc gamma R-mediated phagocytosis;Fat digestion and absorption;Sphingolipid de novo biosynthesis PE1 19 +NX_O43692 Peptidase inhibitor 15 258 29065 8.37 0 Cytoplasmic vesicle;Cytosol;Secreted NA Serine protease inhibitor which displays weak inhibitory activity against trypsin (PubMed:8882727). May play a role in facial patterning during embryonic development (By similarity). N-glycosylated. Belongs to the CRISP family. NA PE1 8 +NX_O43699 Sialic acid-binding Ig-like lectin 6 453 49913 6.7 1 Secreted;Cell membrane NA Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Binds to alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. NA Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_O43704 Sulfotransferase family cytosolic 1B member 1 296 34899 6.57 0 Golgi apparatus;Cytoplasm;Nucleoplasm NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs and xenobiotic compounds. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Sulfates dopamine, small phenols such as 1-naphthol and p-nitrophenol and thyroid hormones, including 3,3'-diiodothyronine, triidothyronine, reverse triiodothyronine and thyroxine. NA Belongs to the sulfotransferase 1 family. Cytosolic sulfonation of small molecules PE1 4 +NX_O43707 Alpha-actinin-4 911 104854 5.27 0 Cytoplasm;Stress fiber;Cell junction;Nucleus Focal segmental glomerulosclerosis 1 F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation (PubMed:15772161). Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coactivator, stimulating transcription mediated by the nuclear hormone receptors PPARG and RARA (PubMed:22351778). NA Belongs to the alpha-actinin family. Focal adhesion;Adherens junction;Tight junction;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Amoebiasis;Systemic lupus erythematosus;Arrhythmogenic right ventricular cardiomyopathy (ARVC);Platelet degranulation;Nephrin family interactions PE1 19 +NX_O43708 Maleylacetoacetate isomerase 216 24212 8.8 0 Nucleoplasm;Cytosol;Cytoplasm Maleylacetoacetate isomerase deficiency Bifunctional enzyme showing minimal glutathione-conjugating activity with ethacrynic acid and 7-chloro-4-nitrobenz-2-oxa-1,3-diazole and maleylacetoacetate isomerase activity. Has also low glutathione peroxidase activity with T-butyl and cumene hydroperoxides. Is able to catalyze the glutathione dependent oxygenation of dichloroacetic acid to glyoxylic acid. NA Belongs to the GST superfamily. Zeta family. Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 5/6.;Tyrosine metabolism;Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;Glutathione conjugation;Regulation of pyruvate dehydrogenase (PDH) complex;Tyrosine catabolism PE1 14 +NX_O43709 Probable 18S rRNA (guanine-N(7))-methyltransferase 281 31880 8.95 0 Cytoplasm;Nucleolus;Nucleoplasm;Perinuclear region;Nucleus NA S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (PubMed:25851604). Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity (PubMed:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity (PubMed:24086612). Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors (PubMed:24488492). Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements (PubMed:24488492). Required for maintenance of dimethylation on histone H3 'Lys-79' (H3K79me2), although direct histone methyltransferase activity is not observed in vitro (PubMed:24488492). May be ubiquitinated and targeted to degradation in response to proinflammatory cytokine signaling. Belongs to the class I-like SAM-binding methyltransferase superfamily. BUD23/WBSCR22 family. Histidine metabolism;Tyrosine metabolism;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 7 +NX_O43711 T-cell leukemia homeobox protein 3 291 31867 9.95 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 5 +NX_O43715 TP53-regulated inhibitor of apoptosis 1 76 8786 5.37 0 Nucleoplasm;Mitochondrion intermembrane space;Mitochondrion;Perinuclear region NA Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. In vitro, the TRIAP1:PRELID1 complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space to provide PA for CL synthesis in the inner membrane (PubMed:23931759). Likewise, the TRIAP1:PRELID3A complex mediates the transfer of phosphatidic acid (PA) between liposomes (in vitro) and probably functions as a PA transporter across the mitochondrion intermembrane space (in vivo) (PubMed:26071602). Mediates cell survival by inhibiting activation of caspase-9 which prevents induction of apoptosis (PubMed:15735003). NA Belongs to the TRIAP1/MDM35 family. TP53 Regulates Transcription of Genes Involved in Cytochrome C Release PE1 12 +NX_O43716 Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial 136 15086 4.94 0 Mitochondrion NA Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln). NA Belongs to the GatC family. NA PE1 12 +NX_O43719 HIV Tat-specific factor 1 755 85853 4.29 0 Nucleoplasm;Nucleus NA Functions as a general transcription factor playing a role in the process of transcriptional elongation. May mediate the reciprocal stimulatory effect of splicing on transcriptional elongation. In case of infection by HIV-1, it is up-regulated by the HIV-1 proteins NEF and gp120, acts as a cofactor required for the Tat-enhanced transcription of the virus. NA Belongs to the HTATSF1 family. NA PE1 X +NX_O43731 ER lumen protein-retaining receptor 3 214 25027 9.07 7 Endoplasmic reticulum;COPI-coated vesicle membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane NA Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum. NA Belongs to the ERD2 family. Vibrio cholerae infection;XBP1(S) activates chaperone genes;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 22 +NX_O43734 Adapter protein CIKS 574 64666 6.27 0 Golgi apparatus;Cytoplasmic vesicle Psoriasis 13;Candidiasis, familial, 8 Could be involved in the activation of both NF-kappa-B via a NF-kappa-B inhibitor kinase (IKK)-dependent mechanism and stress-activated protein kinase (SAPK)/JNK. NA NA NA PE1 6 +NX_O43736 Integral membrane protein 2A 263 29741 5.65 1 Golgi apparatus;Cytoplasmic vesicle;Membrane;Cell membrane NA NA NA Belongs to the ITM2 family. NA PE1 X +NX_O43739 Cytohesin-3 400 46349 5.35 0 Cell membrane;Adherens junction;Nucleoplasm;Tight junction;Cytosol NA Promotes guanine-nucleotide exchange on ARF1 and ARF6. Promotes the activation of ARF factors through replacement of GDP with GTP. Play a role in the epithelial polarization (By similarity). NA NA Intra-Golgi traffic PE1 7 +NX_O43741 5'-AMP-activated protein kinase subunit beta-2 272 30302 5.99 0 Nucleoplasm NA Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Beta non-catalytic subunit acts as a scaffold on which the AMPK complex assembles, via its C-terminus that bridges alpha (PRKAA1 or PRKAA2) and gamma subunits (PRKAG1, PRKAG2 or PRKAG3). Phosphorylated when associated with the catalytic subunit (PRKAA1 or PRKAA2). Phosphorylated by ULK1 and ULK2; leading to negatively regulate AMPK activity and suggesting the existence of a regulatory feedback loop between ULK1, ULK2 and AMPK.;PRKAB2 is phosphorylated by ULK2 Belongs to the 5'-AMP-activated protein kinase beta subunit family. Insulin signaling pathway;Adipocytokine signaling pathway;Hypertrophic cardiomyopathy (HCM);Macroautophagy;Translocation of SLC2A4 (GLUT4) to the plasma membrane;TP53 Regulates Metabolic Genes;Activation of PPARGC1A (PGC-1alpha) by phosphorylation;Energy dependent regulation of mTOR by LKB1-AMPK;AMPK inhibits chREBP transcriptional activation activity;Import of palmitoyl-CoA into the mitochondrial matrix;Regulation of TP53 Activity through Phosphorylation;Activation of AMPK downstream of NMDARs;Lipophagy PE1 1 +NX_O43745 Calcineurin B homologous protein 2 196 22452 5.89 0 Cytoplasm;Nucleus;Cell membrane NA Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Binds to and activates SLC9A1/NHE1 in a serum-independent manner, thus increasing pH and protecting cells from serum deprivation-induced death. Also plays a role in the regulation of cell proliferation and tumor growth by increasing the phosphatase activity of PPP3CA in a calcium-dependent manner. Activator of the calcineurin/NFAT signaling pathway. Involved in the cytoplasmic translocation of the transcription factor NFATC3 to the nucleus. NA Belongs to the calcineurin regulatory subunit family. CHP subfamily. MAPK signaling pathway;Calcium signaling pathway;Oocyte meiosis;Apoptosis;Wnt signaling pathway;Axon guidance;VEGF signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Long-term potentiation;Glutamatergic synapse;Alzheimer's disease;Amyotrophic lateral sclerosis (ALS);Tuberculosis PE1 16 +NX_O43747 AP-1 complex subunit gamma-1 822 91351 6.36 0 Cytoplasmic vesicle;Golgi apparatus;Cytosol;Clathrin-coated vesicle membrane NA Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. NA Belongs to the adaptor complexes large subunit family. Lysosome;MHC class II antigen presentation;Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis;Nef mediated downregulation of MHC class I complex cell surface expression PE1 16 +NX_O43749 Olfactory receptor 1F1 312 34866 7.59 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 16 +NX_O43752 Syntaxin-6 255 29176 4.84 1 Golgi apparatus;Nucleoplasm;Golgi apparatus membrane NA Involved in intracellular vesicle trafficking. NA Belongs to the syntaxin family. SNARE interactions in vesicular transport;Intra-Golgi traffic;Retrograde transport at the Trans-Golgi-Network PE1 1 +NX_O43759 Synaptogyrin-1 233 25456 4.5 4 Cytosol;Synaptic vesicle membrane;Melanosome NA May play a role in regulated exocytosis. Modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in synaptic-like microvesicle formation and/or maturation (By similarity). Involved in the regulation of short-term and long-term synaptic plasticity (By similarity). NA Belongs to the synaptogyrin family. Neutrophil degranulation PE1 22 +NX_O43760 Synaptogyrin-2 224 24810 4.75 4 Cytoplasmic vesicle membrane;Synaptic vesicle membrane;Lipid droplet NA (Microbial infection) May play a role in the assembly of cytoplasmic inclusion bodies required for SFTS phlebovirus replication.;May play a role in regulated exocytosis. In neuronal cells, modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in the formation and/or the maturation of this vesicles. May also play a role in GLUT4 storage and transport to the plasma membrane. May be tyrosine phosphorylated by Src. Belongs to the synaptogyrin family. NA PE1 17 +NX_O43761 Synaptogyrin-3 229 24555 8.42 4 Synaptic vesicle membrane;Synapse;Cell membrane NA May play a role in regulated exocytosis. May indirectly regulate the activity of the plasma membrane dopamine transporter SLC6A3 and thereby regulate dopamine transport back from the synaptic cleft into the presynaptic terminal. NA Belongs to the synaptogyrin family. NA PE1 16 +NX_O43763 T-cell leukemia homeobox protein 2 284 30251 11.09 0 Nucleoplasm;Nucleus NA Transcription activator that binds DNA elements with the consensus sequence 5'-CGGTAATTGG-3'. Binds DNA via its homeobox. Required for normal cell death of enteric neurons in the gastrointestinal tract. Required for normal development of the enteric nervous system, and for proper development of normal motility of the gastrointestinal tract (By similarity). NA NA NA PE1 2 +NX_O43765 Small glutamine-rich tetratricopeptide repeat-containing protein alpha 313 34063 4.81 0 Cytoplasm;Nucleoplasm;Nucleus NA (Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection via interaction with DNAJB12, DNAJB14 and HSPA8/Hsc70 (PubMed:24675744).;Co-chaperone that binds misfolded and hydrophobic patches-containing client proteins in the cytosol. Mediates their targeting to the endoplasmic reticulum but also regulates their sorting to the proteasome when targeting fails (PubMed:28104892). Functions in tail-anchored/type II transmembrane proteins membrane insertion constituting with ASNA1 and the BAG6 complex a targeting module (PubMed:28104892). Functions upstream of the BAG6 complex and ASNA1, binding more rapidly the transmembrane domain of newly synthesized proteins (PubMed:28104892, PubMed:25535373). It is also involved in the regulation of the endoplasmic reticulum-associated misfolded protein catabolic process via its interaction with BAG6: collaborates with the BAG6 complex to maintain hydrophobic substrates in non-ubiquitinated states (PubMed:23129660, PubMed:25179605). Competes with RNF126 for interaction with BAG6, preventing the ubiquitination of client proteins associated with the BAG6 complex (PubMed:27193484). Binds directly to HSC70 and HSP70 and regulates their ATPase activity (PubMed:18759457). NA Belongs to the SGT family. Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 19 +NX_O43766 Lipoyl synthase, mitochondrial 372 41911 8.84 0 Nucleoplasm;Cytosol;Mitochondrion Hyperglycinemia, lactic acidosis, and seizures Catalyzes the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to the lipoyl domains of lipoate-dependent enzymes, thereby converting the octanoylated domains into lipoylated derivatives. NA Belongs to the radical SAM superfamily. Lipoyl synthase family. Protein modification; protein lipoylation via endogenous pathway; protein N(6)-(lipoyl)lysine from octanoyl-[acyl-carrier-protein]: step 2/2.;Lipoic acid metabolism;Metabolic pathways;Glyoxylate metabolism and glycine degradation PE1 4 +NX_O43768 Alpha-endosulfine 121 13389 6.62 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Cytoskeleton NA Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. When phosphorylated at Ser-67 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M phase (By similarity). Also acts as a stimulator of insulin secretion by interacting with sulfonylurea receptor (ABCC8), thereby preventing sulfonylurea from binding to its receptor and reducing K(ATP) channel currents. Phosphorylation at Ser-67 by GWL during mitosis is essential for interaction with PPP2R2D (PR55-delta) and subsequent inactivation of PP2A (By similarity). Phosphorylated by PKA. Belongs to the endosulfine family. MASTL Facilitates Mitotic Progression PE1 1 +NX_O43772 Mitochondrial carnitine/acylcarnitine carrier protein 301 32944 9.48 6 Cytosol;Mitochondrion inner membrane;Mitochondrion Carnitine-acylcarnitine translocase deficiency Mediates the transport of acylcarnitines of different length across the mitochondrial inner membrane from the cytosol to the mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Import of palmitoyl-CoA into the mitochondrial matrix PE1 3 +NX_O43776 Asparagine--tRNA ligase, cytoplasmic 548 62943 5.9 0 Cytoplasm;Cytosol NA NA NA Belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Cytosolic tRNA aminoacylation PE1 18 +NX_O43781 Dual specificity tyrosine-phosphorylation-regulated kinase 3 588 65714 9.41 0 Cytoplasm;Nucleus speckle;Nucleoplasm;Centrosome;Cytosol;Cytoplasmic granule;Nucleus NA Dual-specificity protein kinase that promotes disassembly of several types of membraneless organelles during mitosis, such as stress granules, nuclear speckles and pericentriolar material (PubMed:29973724). Dual-specificity tyrosine-regulated kinases (DYRKs) autophosphorylate a critical tyrosine residue in their activation loop and phosphorylate their substrate on serine and threonine residues (PubMed:9748265, PubMed:29634919). Acts as a central dissolvase of membraneless organelles during the G2-to-M transition, after the nuclear-envelope breakdown: acts by mediating phosphorylation of multiple serine and threonine residues in unstructured domains of proteins, such as SRRM1 and PCM1 (PubMed:29973724). Does not mediate disassembly of all membraneless organelles: disassembly of P-body and nucleolus is not regulated by DYRK3 (PubMed:29973724). Dissolution of membraneless organelles at the onset of mitosis is also required to release mitotic regulators, such as ZNF207, from liquid-unmixed organelles where they are sequestered and keep them dissolved during mitosis (PubMed:29973724). Regulates mTORC1 by mediating the dissolution of stress granules: during stressful conditions, DYRK3 partitions from the cytosol to the stress granule, together with mTORC1 components, which prevents mTORC1 signaling (PubMed:23415227). When stress signals are gone, the kinase activity of DYRK3 is required for the dissolution of stress granule and mTORC1 relocation to the cytosol: acts by mediating the phosphorylation of the mTORC1 inhibitor AKT1S1, allowing full reactivation of mTORC1 signaling (PubMed:23415227). Also acts as a negative regulator of EPO-dependent erythropoiesis: may place an upper limit on red cell production during stress erythropoiesis (PubMed:10779429). Inhibits cell death due to cytokine withdrawal in hematopoietic progenitor cells (PubMed:10779429). Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1: this in turn inhibits p53/TP53 activity and apoptosis (PubMed:20167603). Protein kinase activity is activated following autophosphorylation at Tyr-369 (Probable). Autophosphorylation at Ser-350 stabilizes the protein and enhances the protein kinase activity (PubMed:9748265).;Ubiquitinated at anaphase by the anaphase-promoting complex (APC/C), leading to its degradation by the proteasome.;Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily. NA PE1 1 +NX_O43790 Keratin, type II cuticular Hb6 486 53501 5.56 0 Cytosol Monilethrix NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_O43791 Speckle-type POZ protein 374 42132 5.58 0 Nucleus speckle;Nucleus NA Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, leading most often to their proteasomal degradation. In complex with CUL3, involved in ubiquitination and proteasomal degradation of BRMS1, DAXX, PDX1/IPF1, GLI2 and GLI3. In complex with CUL3, involved in ubiquitination of H2AFY and BMI1; this does not lead to their proteasomal degradation. Inhibits transcriptional activation of PDX1/IPF1 targets, such as insulin, by promoting PDX1/IPF1 degradation. The cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containing homodimeric SPOP has higher ubiquitin ligase activity than the complex that contains the heterodimer formed by SPOP and SPOPL. NA Belongs to the Tdpoz family. Protein modification; protein ubiquitination.;Hedgehog 'on' state PE1 17 +NX_O43795 Unconventional myosin-Ib 1136 131985 9.43 0 Cell membrane NA Motor protein that may participate in process critical to neuronal development and function such as cell migration, neurite outgrowth and vesicular transport. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. NA PE1 2 +NX_O43805 Sjoegren syndrome nuclear autoantigen 1 119 13596 5.37 0 Centrosome;Nucleus NA NA NA Belongs to the SSNA1 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 9 +NX_O43808 Peroxisomal membrane protein PMP34 307 34567 10.09 6 Peroxisome membrane;Cytoplasm;Peroxisome NA Peroxisomal transporter for multiple cofactors like coenzyme A (CoA), flavin adenine dinucleotide (FAD), flavin mononucleotide (FMN) and nucleotide adenosine monophosphate (AMP), and to a lesser extent for nicotinamide adenine dinucleotide (NAD(+)), adenosine diphosphate (ADP) and adenosine 3',5'-diphosphate (PAP). May catalyze the transport of free CoA, FAD and NAD(+) from the cytosol into the peroxisomal matrix by a counter-exchange mechanism. Inhibited by pyridoxal 5'-phosphate and bathophenanthroline in vitro. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Peroxisome;Alpha-oxidation of phytanate;Class I peroxisomal membrane protein import PE1 22 +NX_O43809 Cleavage and polyadenylation specificity factor subunit 5 227 26227 8.85 0 Cytoplasm;Centrosome;Centriolar satellite;Nucleus NA Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs (PubMed:9659921, PubMed:8626397, PubMed:14690600, PubMed:15937220, PubMed:17024186, PubMed:17098938, PubMed:29276085). CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3'-end, so called cleavage and polyadenylation signals (pA signals) (PubMed:9659921, PubMed:8626397, PubMed:14690600, PubMed:17024186). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3'-end formation (PubMed:17098938, PubMed:23187700, PubMed:29276085). The CFIm complex acts as a key regulator of cleavage and polyadenylation site choice during APA through its binding to 5'-UGUA-3' elements localized in the 3'-untranslated region (UTR) for a huge number of pre-mRNAs (PubMed:17098938, PubMed:20695905, PubMed:29276085). NUDT21/CPSF5 activates indirectly the mRNA 3'-processing machinery by recruiting CPSF6 and/or CPSF7 (PubMed:29276085). Binds to 5'-UGUA-3' elements localized upstream of pA signals that act as enhancers of pre-mRNA 3'-end processing (PubMed:8626397, PubMed:14690600, PubMed:15169763, PubMed:17024186, PubMed:22813749, PubMed:20479262). The homodimer mediates simultaneous sequence-specific recognition of two 5'-UGUA-3' elements within the pre-mRNA (PubMed:20479262, PubMed:21295486). Plays a role in somatic cell fate transitions and pluripotency by regulating widespread changes in gene expression through an APA-dependent function (By similarity). Binds to chromatin (By similarity). Binds to, but does not hydrolyze mono- and di-adenosine nucleotides (PubMed:18445629). Acetylated mainly by p300/CBP, recruited to the complex by CPSF6. Acetylation decreases interaction with PAPAO. Deacetylated by the class I/II HDACs, HDAC1, HDAC3 and HDAC10, and by the class III HDACs, SIRT1 AND SIRT2. Belongs to the Nudix hydrolase family. CPSF5 subfamily. mRNA surveillance pathway;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Processing of Intronless Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 16 +NX_O43812 Double homeobox protein 1 170 19347 11.17 0 Nucleus NA Probable transcription activator. Binds the P5 DNA element sequence 5'-GATCTGAGTCTAATTGAGAATTACTGTAC-3'. NA Belongs to the paired homeobox family. NA PE1 10 +NX_O43813 Glutathione S-transferase LANCL1 399 45283 7.86 0 Cytoplasm;Cell membrane;Cytoskeleton NA Functions as glutathione transferase. Catalyzes conjugation of the glutathione (GSH) to artificial substrates 1-chloro-2,4-dinitrobenzene (CDNB) and p-nitrophenyl acetate. Mitigates neuronal oxidative stress during normal postnatal development and in response to oxidative stresses probably through GSH antioxidant defense mechanism (By similarity). May play a role in EPS8 signaling. Binds glutathione (PubMed:19528316). NA Belongs to the LanC-like protein family. NA PE1 2 +NX_O43815 Striatin 780 86132 5.12 0 Cytoplasm;Dendritic spine;Membrane;Nucleoplasm;Cytosol NA Calmodulin-binding protein which may function as scaffolding or signaling protein and may play a role in dendritic Ca(2+) signaling. NA Belongs to the WD repeat striatin family. PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Extra-nuclear estrogen signaling PE1 2 +NX_O43818 U3 small nucleolar RNA-interacting protein 2 475 51841 7.97 0 Nucleoplasm;Nucleolus NA Component of a nucleolar small nuclear ribonucleoprotein particle (snoRNP) thought to participate in the processing and modification of pre-ribosomal RNA. NA Belongs to the WD repeat RRP9 family. rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 3 +NX_O43819 Protein SCO2 homolog, mitochondrial 266 29810 9.01 1 Mitochondrion inner membrane;Mitochondrion Leigh syndrome;Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1;Myopia 6 Copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Involved in transporting copper to the Cu(A) site on MT-CO2/COX2 (PubMed:15229189, PubMed:17189203). Also acts as a thiol-disulfide oxidoreductase to regulate the redox state of the cysteines in SCO1 during maturation of MT-CO2/COX2 (PubMed:19336478). NA Belongs to the SCO1/2 family. Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 22 +NX_O43820 Hyaluronidase-3 417 46501 8.55 0 Cell membrane;Early endosome;Secreted;Endoplasmic reticulum;Acrosome NA Facilitates sperm penetration into the layer of cumulus cells surrounding the egg by digesting hyaluronic acid. Involved in induction of the acrosome reaction in the sperm. Involved in follicular atresia, the breakdown of immature ovarian follicles that are not selected to ovulate. Induces ovarian granulosa cell apoptosis, possibly via apoptotic signaling pathway involving CASP8 and CASP3 activation, and poly(ADP-ribose) polymerase (PARP) cleavage. Has no hyaluronidase activity in embryonic fibroblasts in vitro. Has no hyaluronidase activity in granulosa cells in vitro. N-glycosylated. Belongs to the glycosyl hydrolase 56 family. Glycosaminoglycan degradation;Metabolic pathways;Hyaluronan uptake and degradation;CS/DS degradation PE1 3 +NX_O43822 Cilia- and flagella-associated protein 410 256 28340 6.97 0 Cytoplasm;Mitochondrion;Photoreceptor outer segment;Cilium basal body;Cytoplasmic vesicle;Cytosol Retinal dystrophy with or without macular staphyloma;Spondylometaphyseal dysplasia, axial Plays a role in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). Involved in DNA damage repair (PubMed:26290490). NA NA NA PE1 21 +NX_O43823 A-kinase anchor protein 8 692 76108 5.03 0 Cytoplasm;Nucleus matrix;Nucleolus;Nucleoplasm;Nucleus NA Anchoring protein that mediates the subcellular compartmentation of cAMP-dependent protein kinase (PKA type II) (PubMed:9473338). Acts as an anchor for a PKA-signaling complex onto mitotic chromosomes, which is required for maintenance of chromosomes in a condensed form throughout mitosis. Recruits condensin complex subunit NCAPD2 to chromosomes required for chromatin condensation; the function appears to be independent from PKA-anchoring (PubMed:10601332, PubMed:10791967, PubMed:11964380). May help to deliver cyclin D/E to CDK4 to facilitate cell cycle progression (PubMed:14641107). Required for cell cycle G2/M transition and histone deacetylation during mitosis. In mitotic cells recruits HDAC3 to the vicinity of chromatin leading to deacetylation and subsequent phosphorylation at 'Ser-10' of histone H3; in this function may act redundantly with AKAP8L (PubMed:16980585). Involved in nuclear retention of RPS6KA1 upon ERK activation thus inducing cell proliferation (PubMed:22130794). May be involved in regulation of DNA replication by acting as scaffold for MCM2 (PubMed:12740381). Enhances HMT activity of the KMT2 family MLL4/WBP7 complex and is involved in transcriptional regulation. In a teratocarcinoma cell line is involved in retinoic acid-mediated induction of developmental genes implicating H3 'Lys-4' methylation (PubMed:23995757). May be involved in recruitment of active CASP3 to the nucleus in apoptotic cells (PubMed:16227597). May act as a carrier protein of GJA1 for its transport to the nucleus (PubMed:26880274). Seems to involved in modulation of rDNA transcription. Preferentially binds GC-rich DNA in vitro and associates to GC-rich ribosomal RNA promoters (PubMed:26683827). Involved in modulation of Toll-like receptor signaling. Required for the cAMP-dependent suppression of TNF-alpha in early stages of LPS-induced macrophage activation; the function probably implicates targeting of PKA to NFKB1 (By similarity). Phosphorylated on tyrosine residues probably by SRC subfamily protein kinases; multiple phosphorylation is leading to dissociation from nuclear structures implicated in chromatin structural changes. Belongs to the AKAP95 family. NA PE1 19 +NX_O43824 Putative GTP-binding protein 6 516 56897 9.49 0 Mitochondrion NA NA NA Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. HflX GTPase family. NA PE1 X +NX_O43825 Beta-1,3-galactosyltransferase 2 422 49213 9.5 1 Golgi apparatus membrane;Cell membrane;Cytoskeleton NA Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Can also utilize substrates with a terminal galactose residue, albeit with lower efficiency. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N-acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc) residues. NA Belongs to the glycosyltransferase 31 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;Lewis blood group biosynthesis PE1 1 +NX_O43826 Glucose-6-phosphate exchanger SLC37A4 429 46360 8.85 10 Endoplasmic reticulum membrane;Mitochondrion Glycogen storage disease 1B;Glycogen storage disease 1D;Glycogen storage disease 1C Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum. Transports cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocates inorganic phosphate into the opposite direction. Forms with glucose-6-phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it plays a central role in homeostatic regulation of blood glucose levels. NA Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family. Carbohydrate digestion and absorption;Gluconeogenesis;Glycogen storage disease type Ib (SLC37A4) PE1 11 +NX_O43827 Angiopoietin-related protein 7 346 40018 7.98 0 Secreted NA NA NA NA NA PE1 1 +NX_O43829 Zinc finger and BTB domain-containing protein 14 449 50956 5.69 0 Nucleoplasm;Nucleus NA Transcriptional activator of the dopamine transporter (DAT), binding it's promoter at the consensus sequence 5'-CCTGCACAGTTCACGGA-3'. Binds to 5'-d(GCC)(n)-3' trinucleotide repeats in promoter regions and acts as a repressor of the FMR1 gene. Transcriptional repressor of MYC and thymidine kinase promoters. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 18 +NX_O43837 Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial 385 42184 8.64 0 Mitochondrion Retinitis pigmentosa 46 Plays a structural role to facilitate the assembly and ensure the full activity of the enzyme catalyzing the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers. NA Belongs to the isocitrate and isopropylmalate dehydrogenases family. Citrate cycle (TCA cycle);Metabolic pathways;Citric acid cycle (TCA cycle) PE1 20 +NX_O43847 Nardilysin 1151 131701 4.88 0 Nucleoplasm NA Cleaves peptide substrates on the N-terminus of arginine residues in dibasic pairs. NA Belongs to the peptidase M16 family. NA PE1 1 +NX_O43852 Calumenin 315 37107 4.47 0 Golgi apparatus;Endoplasmic reticulum membrane;Secreted;Endoplasmic reticulum;Melanosome;Sarcoplasmic reticulum lumen NA Involved in regulation of vitamin K-dependent carboxylation of multiple N-terminal glutamate residues. Seems to inhibit gamma-carboxylase GGCX. Binds 7 calcium ions with a low affinity (By similarity). NA Belongs to the CREC family. Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 7 +NX_O43854 EGF-like repeat and discoidin I-like domain-containing protein 3 480 53765 7.08 0 Secreted NA Promotes adhesion of endothelial cells through interaction with the alpha-v/beta-3 integrin receptor. Inhibits formation of vascular-like structures. May be involved in regulation of vascular morphogenesis of remodeling in embryonic development. NA NA NA PE1 5 +NX_O43861 Probable phospholipid-transporting ATPase IIB 1147 129304 7.67 10 trans-Golgi network membrane NA NA NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. Ion transport by P-type ATPases PE1 18 +NX_O43865 S-adenosylhomocysteine hydrolase-like protein 1 530 58951 6.49 0 Endoplasmic reticulum;Apical cell membrane;Microsome;Cytosol NA Multifaceted cellular regulator which coordinates several essential cellular functions including regulation of epithelial HCO3(-) and fluid secretion, mRNA processing and DNA replication. Regulates ITPR1 sensitivity to inositol 1,4,5-trisphosphate competing for the common binding site and acting as endogenous 'pseudoligand' whose inhibitory activity can be modulated by its phosphorylation status. In the pancreatic and salivary ducts, at resting state, attenuates inositol 1,4,5-trisphosphate-induced calcium release by interacting with ITPR1 (PubMed:16793548). When extracellular stimuli induce ITPR1 phosphorylation or inositol 1,4,5-trisphosphate production, dissociates of ITPR1 to interact with CFTR and SLC26A6 mediating their synergistic activation by calcium and cAMP that stimulates the epithelial secretion of electrolytes and fluid (By similarity). Also activates basolateral SLC4A4 isoform 1 to coordinate fluid and HCO3(-) secretion (PubMed:16769890). Inhibits the effect of STK39 on SLC4A4 and CFTR by recruiting PP1 phosphatase which activates SLC4A4, SLC26A6 and CFTR through dephosphorylation (By similarity). Mediates the induction of SLC9A3 surface expression produced by Angiotensin-2 (PubMed:20584908). Depending on the cell type, activates SLC9A3 in response to calcium or reverses SLC9A3R2-dependent calcium inhibition (PubMed:18829453). May modulate the polyadenylation state of specific mRNAs, both by controlling the subcellular location of FIP1L1 and by inhibiting PAPOLA activity, in response to a stimulus that alters its phosphorylation state (PubMed:19224921). Acts as a (dATP)-dependent inhibitor of ribonucleotide reductase large subunit RRM1, controlling the endogenous dNTP pool and ensuring normal cell cycle progression (PubMed:25237103). In vitro does not exhibit any S-adenosyl-L-homocysteine hydrolase activity (By similarity). Phosphorylated at Ser/Thr residues between Ser-68 and Thr-72 in the PEST region: required for interaction with dATP-bound RRM1 and ITPR1. Phosphorylation at Ser-68 by PRKD1 and CAMK4 is required for further phosphorylations by CSNK1A1 (PubMed:16793548). Phosphorylation is induced by oxidative stress (PubMed:19224921). Probably phosphorylated by CAMK2A; phosphorylation at Ser-68 may be required for interaction with SLC9A3 (PubMed:20584908). Belongs to the adenosylhomocysteinase family. Cysteine and methionine metabolism;Metabolic pathways;FCERI mediated Ca+2 mobilization;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;VEGFR2 mediated cell proliferation;Regulation of insulin secretion;PLC beta mediated events;CLEC7A (Dectin-1) induces NFAT activation;DAG and IP3 signaling;Ion homeostasis PE1 1 +NX_O43866 CD5 antigen-like 347 38088 5.28 0 Cytoplasm;Secreted NA Secreted protein that acts as a key regulator of lipid synthesis: mainly expressed by macrophages in lymphoid and inflamed tissues and regulates mechanisms in inflammatory responses, such as infection or atherosclerosis. Able to inhibit lipid droplet size in adipocytes. Following incorporation into mature adipocytes via CD36-mediated endocytosis, associates with cytosolic FASN, inhibiting fatty acid synthase activity and leading to lipolysis, the degradation of triacylglycerols into glycerol and free fatty acids (FFA). CD5L-induced lipolysis occurs with progression of obesity: participates in obesity-associated inflammation following recruitment of inflammatory macrophages into adipose tissues, a cause of insulin resistance and obesity-related metabolic disease. Regulation of intracellular lipids mediated by CD5L has a direct effect on transcription regulation mediated by nuclear receptors ROR-gamma (RORC). Acts as a key regulator of metabolic switch in T-helper Th17 cells. Regulates the expression of pro-inflammatory genes in Th17 cells by altering the lipid content and limiting synthesis of cholesterol ligand of RORC, the master transcription factor of Th17-cell differentiation. CD5L is mainly present in non-pathogenic Th17 cells, where it decreases the content of polyunsaturated fatty acyls (PUFA), affecting two metabolic proteins MSMO1 and CYP51A1, which synthesize ligands of RORC, limiting RORC activity and expression of pro-inflammatory genes. Participates in obesity-associated autoimmunity via its association with IgM, interfering with the binding of IgM to Fcalpha/mu receptor and enhancing the development of long-lived plasma cells that produce high-affinity IgG autoantibodies (By similarity). Also acts as an inhibitor of apoptosis in macrophages: promotes macrophage survival from the apoptotic effects of oxidized lipids in case of atherosclerosis (PubMed:24295828). Involved in early response to microbial infection against various pathogens by acting as a pattern recognition receptor and by promoting autophagy (PubMed:16030018, PubMed:24223991, PubMed:24583716, PubMed:25713983). Not N-glycosylated (PubMed:23236605). Probably not O-glycosylated (PubMed:23236605). NA NA PE1 1 +NX_O43868 Sodium/nucleoside cotransporter 2 658 71926 8.29 14 Membrane NA Sodium-dependent and purine-selective transporter. Exhibits the transport characteristics of the nucleoside transport system cif or N1 subtype (N1/cif) (selective for purine nucleosides and uridine). Plays a critical role in specific uptake and salvage of purine nucleosides in kidney and other tissues. NA Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family. Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane PE1 15 +NX_O43869 Olfactory receptor 2T1 369 41996 8.71 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 1 +NX_O43889 Cyclic AMP-responsive element-binding protein 3 371 41379 4.82 1 Golgi apparatus;Cytoplasm;Endoplasmic reticulum membrane;Cytosol;Nucleus NA (Microbial infection) Processed cyclic AMP-responsive element-binding protein 3: It's transcriptional activity is inhibited by CREBZF in a HCFC1-dependent manner, by the viral transactivator HCV core protein.;(Microbial infection) Isoform 1: Plays a role in herpes simplex virus-1 (HSV-1) latent infection and reactivation from latency. Represses the VP16-mediated transactivation of immediate early genes of the HSV-1 virus by sequestering host cell factor-1 HCFC1 in the ER membrane of sensory neurons, thereby preventing the initiation of the replicative cascade leading to latent infection.;Processed cyclic AMP-responsive element-binding protein 3: This is the transcriptionally active form that translocates to the nucleus and activates unfolded protein response (UPR) target genes during endoplasmic reticulum (ER) stress response. Binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AG][AG]-3') and C/EBP sequences present in many promoters to activate transcription of the genes. Binds to the unfolded protein response element (UPRE) consensus sequences sites. Binds DNA to the 5'-CCAC[GA]-3'half of ERSE II (5'-ATTGG-N-CCACG-3').;(Microbial infection) Isoform 1: May play a role as a cellular tumor suppressor that is targeted by the hepatitis C virus (HCV) core protein.;(Microbial infection) Plays a role in human immunodeficiency virus type 1 (HIV-1) virus protein expression.;Functions as a negative transcriptional regulator in ligand-induced transcriptional activation of the glucocorticoid receptor NR3C1 by recruiting and activating histone deacetylases (HDAC1, HDAC2 and HDAC6). Also decreases the acetylation level of histone H4. Does not promote the chemotactic activity of leukocyte cells.;(Microbial infection) Processed cyclic AMP-responsive element-binding protein 3: Activates transcription of genes required for reactivation of the latent HSV-1 virus. It's transcriptional activity is inhibited by CREBZF in a HCFC1-dependent manner, by the viral transactivator protein VP16. Binds DNA to the cAMP response element (CRE) (consensus: 5'-GTGACGT[AG][AG]-3') and C/EBP sequences present in many viral promoters.;Endoplasmic reticulum (ER)-bound sequence-specific transcription factor that directly binds DNA and activates transcription (PubMed:9271389, PubMed:19779205, PubMed:10984507, PubMed:15845366, PubMed:16940180). Plays a role in the unfolded protein response (UPR), promoting cell survival versus ER stress-induced apoptotic cell death (PubMed:15845366, PubMed:16940180). Also involved in cell proliferation, migration and differentiation, tumor suppression and inflammatory gene expression. Acts as a positive regulator of LKN-1/CCL15-induced chemotaxis signaling of leukocyte cell migration (PubMed:19779205, PubMed:15001559, PubMed:17296613). Associates with chromatin to the HERPUD1 promoter (PubMed:16940180). Also induces transcriptional activation of chemokine receptors (PubMed:18587271, PubMed:17296613). N-glycosylated.;First proteolytically cleaved by site-1 protease (S1P) that generates membrane-associated N-terminus and a luminal C-terminus forms. The membrane-associated N-terminus form is further proteolytically processed probably by the site-2 protease (S2P) through a regulated intramembrane proteolysis (RIP), releasing the transcriptional active processed cyclic AMP-responsive element-binding protein 3 form, which is transported to the nucleus. The proteolytic cleavage is strongly induced during dendritic cell (DC) maturation and inhibited by DCSTAMP. That form is rapidly degraded. Belongs to the bZIP family. ATF subfamily. Cholinergic synapse;Dopaminergic synapse;Melanogenesis;Vasopressin-regulated water reabsorption;Huntington's disease;Prostate cancer;CREB3 factors activate genes PE1 9 +NX_O43895 Xaa-Pro aminopeptidase 2 674 75625 5.69 0 Cytosol;Cell membrane Angioedema induced by ACE inhibitors Membrane-bound metalloprotease which catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Arg-Pro-Pro. May play a role in the metabolism of the vasodilator bradykinin. N-glycosylated. Belongs to the peptidase M24B family. Protein digestion and absorption;Post-translational modification: synthesis of GPI-anchored proteins PE1 X +NX_O43896 Kinesin-like protein KIF1C 1103 122947 6.47 0 Cytoskeleton Spastic ataxia 2, autosomal recessive Motor required for the retrograde transport of Golgi vesicles to the endoplasmic reticulum. Has a microtubule plus end-directed motility. Phosphorylated on tyrosine residues. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 17 +NX_O43897 Tolloid-like protein 1 1013 114709 5.69 0 Cytoplasmic vesicle;Secreted Atrial septal defect 6 Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis. NA NA Degradation of the extracellular matrix;Collagen biosynthesis and modifying enzymes;Crosslinking of collagen fibrils;Anchoring fibril formation PE1 4 +NX_O43900 Prickle planar cell polarity protein 3 615 68609 8.24 0 Cytoplasm;Cell membrane NA Involved in the planar cell polarity (PCP) pathway that is essential for the polarization of epithelial cells during morphogenetic processes, including gastrulation and neurulation (By similarity). PCP is maintained by two molecular modules, the global and the core modules, PRICKLE3 being part of the core module (By similarity). Distinct complexes of the core module segregate to opposite sides of the cell, where they interact with the opposite complex in the neighboring cell at or near the adherents junctions (By similarity). Involved in the organization of the basal body (By similarity). Involved in cilia growth and positioning (By similarity). NA Belongs to the prickle / espinas / testin family. NA PE1 X +NX_O43903 Growth arrest-specific protein 2 313 34945 8.76 0 Cell membrane;Nucleolus;Membrane;Nucleoplasm;Stress fiber;Cytosol NA May play a role in apoptosis by acting as a cell death substrate for caspases. Is cleaved during apoptosis and the cleaved form induces dramatic rearrangements of the actin cytoskeleton and potent changes in the shape of the affected cells. May be involved in the membrane ruffling process (By similarity). Cleaved, during apoptosis, on a specific aspartic residue by caspases.;Phosphorylated on serine residues during the G0-G1 transition phase. Belongs to the GAS2 family. Caspase-mediated cleavage of cytoskeletal proteins PE1 11 +NX_O43908 NKG2-F type II integral membrane protein 158 18234 9.28 1 Membrane NA May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells. NA NA Antigen processing and presentation PE2 12 +NX_O43909 Exostosin-like 3 919 104749 6.08 1 Golgi apparatus;Endoplasmic reticulum membrane Immunoskeletal dysplasia with neurodevelopmental abnormalities Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs) (PubMed:28132690, PubMed:28148688). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation (PubMed:22727489). NA Belongs to the glycosyltransferase 47 family. Glycan metabolism; heparan sulfate biosynthesis.;Glycosaminoglycan biosynthesis - heparan sulfate;Metabolic pathways;XBP1(S) activates chaperone genes PE1 8 +NX_O43913 Origin recognition complex subunit 5 435 50283 7.63 0 Nucleoplasm;Cytosol;Chlorosome;Nucleus NA Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Multi-mono-ubiquitinated by OBI1; ubiquitination is important for efficient DNA replication origin site activation. Ubiquitination levels are low in mitotic and early G1-phAse cells and are induced in late G1-/early S-phase, peaking in S-phase and decrease toward the end of the cell cycle. Belongs to the ORC5 family. Cell cycle;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;Activation of ATR in response to replication stress;CDC6 association with the ORC:origin complex;Assembly of the pre-replicative complex;Activation of the pre-replicative complex;E2F-enabled inhibition of pre-replication complex formation;Assembly of the ORC complex at the origin of replication PE1 7 +NX_O43914 TYRO protein tyrosine kinase-binding protein 113 12179 8.55 1 Cell membrane Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 Adapter protein which non-covalently associates with activating receptors found on the surface of a variety of immune cells to mediate signaling and cell activation following ligand binding by the receptors (PubMed:9490415, PubMed:9655483, PubMed:10604985). TYROBP is tyrosine-phosphorylated in the ITAM domain following ligand binding by the associated receptors which leads to activation of additional tyrosine kinases and subsequent cell activation (PubMed:9490415). Also has an inhibitory role in some cells (PubMed:21727189). Non-covalently associates with activating receptors of the CD300 family to mediate cell activation (PubMed:15557162, PubMed:16920917, PubMed:17928527; PubMed:26221034). Also mediates cell activation through association with activating receptors of the CD200R family (By similarity). Required for neutrophil activation mediated by integrin (By similarity). Required for the activation of myeloid cells mediated by the CLEC5A/MDL1 receptor (PubMed:10449773). Associates with natural killer (NK) cell receptors such as KIR2DS2 and the KLRD1/KLRC2 heterodimer to mediate NK cell activation (PubMed:9490415, PubMed:9655483, PubMed:23715743). Also enhances trafficking and cell surface expression of NK cell receptors KIR2DS1, KIR2DS2 and KIR2DS4 and ensures their stability at the cell surface (PubMed:23715743). Associates with SIRPB1 to mediate activation of myeloid cells such as monocytes and dendritic cells (PubMed:10604985). Associates with TREM1 to mediate activation of neutrophils and monocytes (PubMed:10799849). Associates with TREM2 on monocyte-derived dendritic cells to mediate up-regulation of chemokine receptor CCR7 and dendritic cell maturation and survival (PubMed:11602640). Association with TREM2 mediates cytokine-induced formation of multinucleated giant cells which are formed by the fusion of macrophages (PubMed:18957693). Stabilizes the TREM2 C-terminal fragment (TREM2-CTF) produced by TREM2 ectodomain shedding which suppresses the release of pro-inflammatory cytokines (PubMed:25957402). In microglia, required with TREM2 for phagocytosis of apoptotic neurons (By similarity). Required with ITGAM/CD11B in microglia to control production of microglial superoxide ions which promote the neuronal apoptosis that occurs during brain development (By similarity). Promotes proinflammatory responses in microglia following nerve injury which accelerates degeneration of injured neurons (By similarity). Positively regulates the expression of the IRAK3/IRAK-M kinase and IL10 production by liver dendritic cells and inhibits their T cell allostimulatory ability (By similarity). Negatively regulates B cell proliferation (PubMed:21727189). Required for CSF1-mediated osteoclast cytoskeletal organization (By similarity). Positively regulates multinucleation during osteoclast development (By similarity). Following ligand binding by associated receptors, tyrosine phosphorylated in the ITAM domain which leads to activation of additional tyrosine kinases and subsequent cell activation.;TYROBP is phosphorylated by LCK (Phosphotyrosine:PTM-0255) Belongs to the TYROBP family. Osteoclast differentiation;Natural killer cell mediated cytotoxicity;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;DAP12 signaling;Other semaphorin interactions;Signal regulatory protein family interactions;DAP12 interactions;Neutrophil degranulation PE1 19 +NX_O43915 Vascular endothelial growth factor D 354 40444 8.16 0 Secreted NA Growth factor active in angiogenesis, lymphangiogenesis and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels. May function in the formation of the venous and lymphatic vascular systems during embryogenesis, and also in the maintenance of differentiated lymphatic endothelium in adults. Binds and activates VEGFR-2 (KDR/FLK1) and VEGFR-3 (FLT4) receptors. Undergoes a complex proteolytic maturation which generates a variety of processed secreted forms with increased activity toward VEGFR-3 and VEGFR-2. VEGF-D first form an antiparallel homodimer linked by disulfide bonds before secretion. The fully processed VEGF-D is composed mostly of two VEGF homology domains (VHDs) bound by non-covalent interactions. Belongs to the PDGF/VEGF growth factor family. Cytokine-cytokine receptor interaction;mTOR signaling pathway;Focal adhesion;Pathways in cancer;Renal cell carcinoma;Pancreatic cancer;Bladder cancer;Platelet degranulation;VEGF ligand-receptor interactions;VEGF binds to VEGFR leading to receptor dimerization PE1 X +NX_O43916 Carbohydrate sulfotransferase 1 411 46715 9.17 1 Golgi apparatus membrane NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of galactose (Gal) residues of keratan. Has a preference for sulfating keratan sulfate, but it also transfers sulfate to the unsulfated polymer. The sulfotransferase activity on sialyl LacNAc structures is much higher than the corresponding desialylated substrate, and only internal Gal residues are sulfated. May function in the sulfation of sialyl N-acetyllactosamine oligosaccharide chains attached to glycoproteins. Participates in biosynthesis of selectin ligands. Selectin ligands are present in high endothelial cells (HEVs) and play a central role in lymphocyte homing at sites of inflammation. NA Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily. Glycosaminoglycan biosynthesis - keratan sulfate;Keratan sulfate biosynthesis PE1 11 +NX_O43918 Autoimmune regulator 545 57727 7.53 0 Cytoplasm;Nucleus Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the periphery, called tissue restricted antigens (TRA) (PubMed:26084028). Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-ATTGGTTA-3' combined with a 5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3 that is not methylated at 'Lys-4', not phosphorylated at 'Thr-3' and not methylated at 'Arg-2'. Functions as a sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Mainly expressed by medullary thymic epithelial cells (mTECs), induces the expression of thousands of tissue-restricted proteins, which are presented on major histocompatibility complex class I (MHC-I) and MHC-II molecules to developing T-cells percolating through the thymic medulla (PubMed:26084028). Also induces self-tolerance through other mechanisms such as the regulation of the mTEC differentiation program. Controls the medullary accumulation of thymic dendritic cells and the development of regulatory T-cell through the regulation of XCL1 expression. Regulates the production of CCR4 and CCR7 ligands in medullary thymic epithelial cells and alters the coordinated maturation and migration of thymocytes. In thimic B-cells, allows the presentation of licensing-dependent endogenous self-anitgen for negative selection. In secondary lymphoid organs, induces functional inactivation of CD4(+) T-cells. Expressed by a distinct bone marrow-derived population, induces self-tolerance through a mechanism that does not require regulatory T-cells and is resitant to innate inflammatory stimuli (By similarity). Phosphorylated. Phosphorylation could trigger oligomerization. NA Ubiquitin mediated proteolysis;Primary immunodeficiency PE1 21 +NX_O43920 NADH dehydrogenase [ubiquinone] iron-sulfur protein 5 106 12518 9.27 0 Mitochondrion intermembrane space;Mitochondrion inner membrane NA Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFS5 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 1 +NX_O43921 Ephrin-A2 213 23878 6.99 0 Cytosol;Mitochondrion;Cell membrane NA Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. With the EPHA2 receptor may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis (By similarity). NA Belongs to the ephrin family. Axon guidance;EPH-Ephrin signaling;EPH-ephrin mediated repulsion of cells;EPHA-mediated growth cone collapse PE1 19 +NX_O43924 Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta 150 17420 5.57 0 Cytoplasmic vesicle membrane;Cytosol;Cilium basal body Joubert syndrome 22 Promotes the release of prenylated target proteins from cellular membranes (PubMed:9712853). Modulates the activity of prenylated or palmitoylated Ras family members by regulating their subcellular location (PubMed:22002721, PubMed:23698361). Required for normal ciliary targeting of farnesylated target proteins, such as INPP5E (PubMed:24166846). Modulates the subcellular location of target proteins by acting as a GTP specific dissociation inhibitor (GDI) (By similarity). Increases the affinity of ARL3 for GTP by several orders of magnitude. Stabilizes ARL3-GTP by decreasing the nucleotide dissociation rate (By similarity). NA Belongs to the PDE6D/unc-119 family. Purine metabolism;ARL13B-mediated ciliary trafficking of INPP5E PE1 2 +NX_O43927 C-X-C motif chemokine 13 109 12664 10.35 0 Secreted NA Chemotactic for B-lymphocytes but not for T-lymphocytes, monocytes and neutrophils. Does not induce calcium release in B-lymphocytes. Binds to BLR1/CXCR5. NA Belongs to the intercrine alpha (chemokine CxC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 4 +NX_O43929 Origin recognition complex subunit 4 436 50377 8.08 0 Nucleoplasm;Nucleus;Nucleolus Meier-Gorlin syndrome 2 Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3. NA Belongs to the ORC4 family. Cell cycle;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;Activation of ATR in response to replication stress;CDC6 association with the ORC:origin complex;Assembly of the pre-replicative complex;Activation of the pre-replicative complex;E2F-enabled inhibition of pre-replication complex formation;Assembly of the ORC complex at the origin of replication PE1 2 +NX_O43930 Putative serine/threonine-protein kinase PRKY 277 31708 6.46 0 NA NA NA NA Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. cAMP subfamily. NA PE5 Y +NX_O43933 Peroxisome biogenesis factor 1 1283 142867 5.91 0 Peroxisome membrane;Cytoplasm;Peroxisome Peroxisome biogenesis disorder 1B;Peroxisome biogenesis disorder complementation group 1;Heimler syndrome 1;Peroxisome biogenesis disorder 1A Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. NA Belongs to the AAA ATPase family. Peroxisome;Peroxisomal protein import PE1 7 +NX_O43934 UNC93-like protein MFSD11 449 49202 5.48 12 Membrane;Nucleus speckle NA NA NA Belongs to the unc-93 family. NA PE1 17 +NX_O60216 Double-strand-break repair protein rad21 homolog 631 71690 4.54 0 Nucleus matrix;Chromosome;Nucleoplasm;Spindle pole;Centromere;Cytosol;Nucleus Cornelia de Lange syndrome 4;Mungan syndrome 64-kDa C-terminal product: May promote apoptosis.;Double-strand-break repair protein rad21 homolog: As a member of the cohesin complex, involved in sister chromatid cohesion from the time of DNA replication in S phase to their segregation in mitosis, a function that is essential for proper chromosome segregation, post-replicative DNA repair, and the prevention of inappropriate recombination between repetitive regions (PubMed:11509732). The cohesin complex may also play a role in spindle pole assembly during mitosis (PubMed:11590136). In interphase, cohesins may function in the control of gene expression by binding to numerous sites within the genome (By similarity). May control RUNX1 gene expression (Probable). Binds to and represses APOB gene promoter (PubMed:25575569). May play a role in embryonic gut development, possibly through the regulation of enteric neuron development (By similarity). Cleaved by separase/ESPL1 at the onset of anaphase; this cleavage is required for sister chromatid separation and cytokinesis (PubMed:11509732). Cleaved by caspase-3/CASP3 or caspase-7/CASP7 at the beginning of apoptosis (PubMed:12417729, PubMed:11875078).;Phosphorylated; becomes hyperphosphorylated in M phase of cell cycle. The large dissociation of cohesin from chromosome arms during prophase may be partly due to its phosphorylation by PLK1. Belongs to the rad21 family. Cell cycle;Separation of Sister Chromatids;SUMOylation of DNA damage response and repair proteins;Establishment of Sister Chromatid Cohesion;Cohesin Loading onto Chromatin;Resolution of Sister Chromatid Cohesion;Meiotic synapsis;Estrogen-dependent gene expression PE1 8 +NX_O60218 Aldo-keto reductase family 1 member B10 316 36020 7.66 0 Secreted;Lysosome NA Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols (PubMed:9565553, PubMed:18087047, PubMed:12732097, PubMed:19013440, PubMed:19563777). Displays strong enzymatic activity toward all-trans-retinal, 9-cis-retinal, and 13-cis-retinal (PubMed:12732097, PubMed:18087047). Plays a critical role in detoxifying dietary and lipid-derived unsaturated carbonyls, such as crotonaldehyde, 4-hydroxynonenal, trans-2-hexenal, trans-2,4-hexadienal and their glutathione-conjugates carbonyls (GS-carbonyls) (PubMed:19013440, PubMed:19563777). Displays no reductase activity towards glucose (PubMed:12732097). NA Belongs to the aldo/keto reductase family. Cofactor metabolism; retinol metabolism.;Fructose and mannose metabolism;Linoleic acid metabolism;Butanoate metabolism;Metabolic pathways;Retinoid metabolism and transport PE1 7 +NX_O60220 Mitochondrial import inner membrane translocase subunit Tim8 A 97 10998 5.08 0 Mitochondrion inner membrane;Mitochondrion Mohr-Tranebjaerg syndrome Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. Probably necessary for normal neurologic development. NA Belongs to the small Tim family. Mitochondrial protein import PE1 X +NX_O60224 Protein SSX4 188 21858 9.16 0 NA NA Could act as a modulator of transcription. NA Belongs to the SSX family. NA PE1 X +NX_O60225 Protein SSX5 188 21660 9.35 0 NA NA Could act as a modulator of transcription. NA Belongs to the SSX family. NA PE1 X +NX_O60229 Kalirin 2986 340261 5.72 0 Nucleoplasm;Cytosol;Cytoplasm;Cytoskeleton Coronary heart disease 5 Promotes the exchange of GDP by GTP. Activates specific Rho GTPase family members, thereby inducing various signaling mechanisms that regulate neuronal shape, growth, and plasticity, through their effects on the actin cytoskeleton. Induces lamellipodia independent of its GEF activity. Autophosphorylated. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. MAPK6/MAPK4 signaling;G alpha (q) signalling events;EPHB-mediated forward signaling;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 3 +NX_O60231 Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 1041 119264 6.39 0 Nucleoplasm;Nucleus NA Required for pre-mRNA splicing as component of the spliceosome (PubMed:20423332, PubMed:20841358, PubMed:25296192, PubMed:29360106). Contributes to pre-mRNA splicing after spliceosome formation and prior to the first transesterification reaction. NA Belongs to the DEAD box helicase family. DEAH subfamily. DDX16/PRP8 sub-subfamily. Spliceosome;mRNA Splicing - Major Pathway PE1 6 +NX_O60232 Protein ZNRD2 199 21474 5.12 0 Cytosol NA Might play a role in mitosis. Antigenic molecule. Could be a centromere-associated protein. May induce anti-centromere antibodies. NA NA NA PE1 11 +NX_O60234 Glia maturation factor gamma 142 16801 5.18 0 NA NA NA NA Belongs to the actin-binding proteins ADF family. GMF subfamily. Neutrophil degranulation PE1 19 +NX_O60235 Transmembrane protease serine 11D 418 46263 8.69 1 Secreted;Cell membrane NA May play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. Plays a role in the proteolytic processing of ACE2. Proteolytically cleaves and activates the human coronavirus 229E (HCoV-229E) spike glycoprotein which facilitate virus-cell membrane fusions; spike proteins are synthesized and maintained in precursor intermediate folding states and proteolysis permits the refolding and energy release required to create stable virus-cell linkages and membrane coalescence. Preferentially cleaves the C-terminal side of arginine residues at the P1 position of certain peptides, cleaving Boc-Phe-Ser-Arg-4-methylcoumaryl-7-amide most efficiently and having an optimum pH of 8.6 with this substrate. NA Belongs to the peptidase S1 family. NA PE1 4 +NX_O60237 Protein phosphatase 1 regulatory subunit 12B 982 110404 5.53 0 Stress fiber;Cell membrane;Cytoskeleton NA Regulates myosin phosphatase activity. Augments Ca(2+) sensitivity of the contractile apparatus. NA NA Vascular smooth muscle contraction;Regulation of PLK1 Activity at G2/M Transition;RHO GTPases activate PKNs;RHO GTPases activate CIT;RHO GTPases activate PAKs;RHO GTPases Activate ROCKs PE1 1 +NX_O60238 BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like 219 23930 5.52 1 Mitochondrion outer membrane;Cytoplasm;Nucleus speckle;Mitochondrion;Membrane;Endoplasmic reticulum;Nucleus envelope;Nucleus NA Induces apoptosis. Interacts with viral and cellular anti-apoptosis proteins. Can overcome the suppressors BCL-2 and BCL-XL, although high levels of BCL-XL expression will inhibit apoptosis. Inhibits apoptosis induced by BNIP3. Involved in mitochondrial quality control via its interaction with SPATA18/MIEAP: in response to mitochondrial damage, participates in mitochondrial protein catabolic process (also named MALM) leading to the degradation of damaged proteins inside mitochondria. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix. May function as a tumor suppressor. Undergoes progressive proteolysis to an 11 kDa C-terminal fragment, which is blocked by the proteasome inhibitor lactacystin. Belongs to the NIP3 family. TP53 Regulates Transcription of Genes Involved in Cytochrome C Release PE1 8 +NX_O60239 SH3 domain-binding protein 5 455 50425 4.92 0 Cytoplasmic vesicle membrane;Nucleoplasm;Mitochondrion;Nucleus NA Functions as guanine nucleotide exchange factor (GEF) with specificity for RAB11A and RAB25 (PubMed:26506309, PubMed:30217979). Inhibits the auto- and transphosphorylation activity of BTK. Plays a negative regulatory role in BTK-related cytoplasmic signaling in B-cells. May be involved in BCR-induced apoptotic cell death. SH3BP5 is phosphorylated by MAPK10 (Phosphoserine:PTM-0253) Belongs to the SH3BP5 family. NA PE1 3 +NX_O60240 Perilipin-1 522 55990 6.03 0 Endoplasmic reticulum;Peroxisome;Lipid droplet Lipodystrophy, familial partial, 4 Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by hormone-sensitive lipase (HSL). Its absence may result in leanness. Plays a role in unilocular lipid droplet formation by activating CIDEC. Their interaction promotes lipid droplet enlargement and directional net neutral lipid transfer. May modulate lipolysis and triglyceride levels. Major cAMP-dependent protein kinase-substrate in adipocytes, also dephosphorylated by PP1. When phosphorylated, may be maximally sensitive to HSL and when unphosphorylated, may play a role in the inhibition of lipolysis, by acting as a barrier in lipid droplet (By similarity). Belongs to the perilipin family. PPAR signaling pathway;Triglyceride catabolism;Transcriptional regulation of white adipocyte differentiation PE1 15 +NX_O60241 Adhesion G protein-coupled receptor B2 1585 172656 7.5 7 Centrosome;Cell membrane NA Orphan G-protein coupled receptor involved in cell adhesion and probably in cell-cell interactions. Activates NFAT-signaling pathway, a transcription factor, via the G-protein GNAZ (PubMed:20367554, PubMed:28891236). Involved in angiogenesis inhibition (By similarity). Glycosylated.;Autoproteolytic processes at the GPS domain; this cleavage modulates receptor activity. Additionally, furin is involved in the cleavage at another site, in the middle of the extracellular domain, generating a soluble fragment. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE1 1 +NX_O60242 Adhesion G protein-coupled receptor B3 1522 171518 6.69 7 Cell membrane NA Receptor that plays a role in the regulation of synaptogenesis and dendritic spine formation at least partly via interaction with ELMO1 and RAC1 activity (By similarity). Promotes myoblast fusion through ELMO/DOCK1 (PubMed:24567399). The endogenous protein is proteolytically cleaved into 2 subunits, an extracellular subunit and a seven-transmembrane subunit. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE1 6 +NX_O60243 Heparan-sulfate 6-O-sulfotransferase 1 411 48226 9.04 1 Membrane;Nucleoplasm;Nucleus speckle Hypogonadotropic hypogonadism 15 with or without anosmia 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. Critical for normal neuronal development where it may play a role in neuron branching. May also play a role in limb development. May prefer iduronic acid. N-glycosylated. Belongs to the sulfotransferase 6 family. Glycosaminoglycan biosynthesis - heparan sulfate;HS-GAG biosynthesis PE1 2 +NX_O60244 Mediator of RNA polymerase II transcription subunit 14 1454 160607 8.97 0 Nucleoplasm;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 14 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 X +NX_O60245 Protocadherin-7 1069 116071 5.02 1 Cell junction;Cell membrane NA NA NA NA Platelet degranulation PE1 4 +NX_O60248 Protein SOX-15 233 25251 9.78 0 Golgi apparatus;Nucleolus;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA Binds to the 5'-AACAAT-3' sequence. NA NA NA PE1 17 +NX_O60256 Phosphoribosyl pyrophosphate synthase-associated protein 2 369 40926 7.08 0 Nucleoplasm;Cytosol NA Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis. NA Belongs to the ribose-phosphate pyrophosphokinase family. NA PE1 17 +NX_O60258 Fibroblast growth factor 17 216 24891 10.43 0 Secreted Hypogonadotropic hypogonadism 20 with or without anosmia Plays an important role in the regulation of embryonic development and as signaling molecule in the induction and patterning of the embryonic brain. Required for normal brain development. NA Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;Signaling by activated point mutants of FGFR1;Signaling by activated point mutants of FGFR3;FGFR4 ligand binding and activation;FGFR3c ligand binding and activation;FGFR1c ligand binding and activation;FGFR2c ligand binding and activation;FGFR3 mutant receptor activation;Activated point mutants of FGFR2;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade: FGFR1;Phospholipase C-mediated cascade, FGFR2;Phospholipase C-mediated cascade, FGFR3;Phospholipase C-mediated cascade, FGFR4;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;SHC-mediated cascade:FGFR3;FRS-mediated FGFR3 signaling;PI-3K cascade:FGFR3;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;PI-3K cascade:FGFR4;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;FGFR3b ligand binding and activation;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Downstream signaling of activated FGFR1;FGFRL1 modulation of FGFR1 signaling;Signaling by FGFR3 point mutants in cancer PE1 8 +NX_O60259 Kallikrein-8 260 28048 7.52 0 Cytoplasm;Secreted;Cytoplasmic vesicle NA Serine protease which is capable of degrading a number of proteins such as casein, fibrinogen, kininogen, fibronectin and collagen type IV. Also cleaves L1CAM in response to increased neural activity. Induces neurite outgrowth and fasciculation of cultured hippocampal neurons. Plays a role in the formation and maturation of orphan and small synaptic boutons in the Schaffer-collateral pathway, regulates Schaffer-collateral long-term potentiation in the hippocampus and is required for memory acquisition and synaptic plasticity. Involved in skin desquamation and keratinocyte proliferation. Plays a role in the secondary phase of pathogenesis following spinal cord injury. NA Belongs to the peptidase S1 family. Kallikrein subfamily. Formation of the cornified envelope PE1 19 +NX_O60260 E3 ubiquitin-protein ligase parkin 465 51641 6.71 0 Nucleus speckle;Mitochondrion;Endoplasmic reticulum;Cytosol;Nucleus Parkinson disease;Parkinson disease 2 Functions within a multiprotein E3 ubiquitin ligase complex, catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins, such as BCL2, SYT11, CCNE1, GPR37, RHOT1/MIRO1, MFN1, MFN2, STUB1, SNCAIP, SEPTIN5, TOMM20, USP30, ZNF746 and AIMP2 (PubMed:10973942, PubMed:10888878, PubMed:11431533, PubMed:12150907, PubMed:12628165, PubMed:16135753, PubMed:21376232, PubMed:23754282, PubMed:23620051, PubMed:24660806, PubMed:24751536, PubMed:29311685). Mediates monoubiquitination as well as 'Lys-6', 'Lys-11', 'Lys-48'-linked and 'Lys-63'-linked polyubiquitination of substrates depending on the context (PubMed:19229105, PubMed:20889974, PubMed:25621951). Participates in the removal and/or detoxification of abnormally folded or damaged protein by mediating 'Lys-63'-linked polyubiquitination of misfolded proteins such as PARK7: 'Lys-63'-linked polyubiquitinated misfolded proteins are then recognized by HDAC6, leading to their recruitment to aggresomes, followed by degradation (PubMed:17846173, PubMed:19229105). Mediates 'Lys-63'-linked polyubiquitination of a 22 kDa O-linked glycosylated isoform of SNCAIP, possibly playing a role in Lewy-body formation (PubMed:11590439, PubMed:11431533, PubMed:19229105, PubMed:11590439, PubMed:15728840). Mediates monoubiquitination of BCL2, thereby acting as a positive regulator of autophagy (PubMed:20889974). Promotes the autophagic degradation of dysfunctional depolarized mitochondria (mitophagy) by promoting the ubiquitination of mitochondrial proteins such as TOMM20, RHOT1/MIRO1 and USP30 (PubMed:19029340, PubMed:19966284, PubMed:23620051, PubMed:24896179, PubMed:25527291). Preferentially assembles 'Lys-6'-, 'Lys-11'- and 'Lys-63'-linked polyubiquitin chains following mitochondrial damage, leading to mitophagy (PubMed:25621951). Mediates 'Lys-48'-linked polyubiquitination of ZNF746, followed by degradation of ZNF746 by the proteasome; possibly playing a role in the regulation of neuron death (PubMed:21376232). Limits the production of reactive oxygen species (ROS). Regulates cyclin-E during neuronal apoptosis. In collaboration with CHPF isoform 2, may enhance cell viability and protect cells from oxidative stress (PubMed:22082830). Independently of its ubiquitin ligase activity, protects from apoptosis by the transcriptional repression of p53/TP53 (PubMed:19801972). May protect neurons against alpha synuclein toxicity, proteasomal dysfunction, GPR37 accumulation, and kainate-induced excitotoxicity (PubMed:11439185). May play a role in controlling neurotransmitter trafficking at the presynaptic terminal and in calcium-dependent exocytosis. May represent a tumor suppressor gene. Auto-ubiquitinates in an E2-dependent manner leading to its own degradation (PubMed:19229105). Also polyubiquitinated by RNF41 for proteasomal degradation.;Phosphorylation at Ser-65 by PINK1 contributes to activate PRKN activity. It is however not sufficient and requires binding to phosphorylated ubiquitin as well.;S-nitrosylated. The inhibition of PRKN ubiquitin E3 ligase activity by S-nitrosylation could contribute to the degenerative process in PD by impairing the ubiquitination of PRKN substrates. Belongs to the RBR family. Parkin subfamily. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;Parkinson's disease;Antigen processing: Ubiquitination & Proteasome degradation;Amyloid fiber formation;Pink/Parkin Mediated Mitophagy;Josephin domain DUBs PE1 6 +NX_O60262 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7 68 7522 8.71 0 Cell membrane NA Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. Plays a role in the regulation of adenylyl cyclase signaling in certain regions of the brain. Plays a role in the formation or stabilzation of a G protein heterotrimer (G(olf) subunit alpha-beta-gamma-7) that is required for adenylyl cyclase activity in the striatum (By similarity). NA Belongs to the G protein gamma family. Chemokine signaling pathway;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;G alpha (i) signalling events;G alpha (q) signalling events;G alpha (s) signalling events;G beta:gamma signalling through PI3Kgamma;G alpha (12/13) signalling events;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G-protein activation;ADP signalling through P2Y purinoceptor 12;Prostacyclin signalling through prostacyclin receptor;Adrenaline,noradrenaline inhibits insulin secretion;Ca2+ pathway;G beta:gamma signalling through PLC beta;ADP signalling through P2Y purinoceptor 1;G alpha (z) signalling events;Glucagon-type ligand receptors;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Presynaptic function of Kainate receptors;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling;G beta:gamma signalling through BTK;G beta:gamma signalling through CDC42 PE1 19 +NX_O60264 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 1052 121905 8.27 0 Nucleoplasm;Nucleus;Nucleolus NA Helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity. Complexes containing SMARCA5 are capable of forming ordered nucleosome arrays on chromatin; this may require intact histone H4 tails. Also required for replication of pericentric heterochromatin in S-phase specifically in conjunction with BAZ1A. Probably plays a role in repression of polI dependent transcription of the rDNA locus, through the recruitment of the SIN3/HDAC1 corepressor complex to the rDNA promoter. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the histone H2AX phosphorylation at 'Tyr-142', and is involved in the maintenance of chromatin structures during DNA replication processes. Essential component of the NoRC (nucleolar remodeling complex) complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing. NA Belongs to the SNF2/RAD54 helicase family. ISWI subfamily. NoRC negatively regulates rRNA expression;Deposition of new CENPA-containing nucleosomes at the centromere;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;B-WICH complex positively regulates rRNA expression PE1 4 +NX_O60266 Adenylate cyclase type 3 1144 128960 6.15 12 Golgi apparatus;Cytoplasm;Cilium;Cell membrane Obesity Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Participates in signaling cascades triggered by odorant receptors via its function in cAMP biosynthesis. Required for the perception of odorants. Required for normal sperm motility and normal male fertility. Plays a role in regulating insulin levels and body fat accumulation in response to a high fat diet. N-glycosylated.;Rapidly phosphorylated after stimulation by odorants or forskolin. Phosphorylation by CaMK2 at Ser-1076 down-regulates enzyme activity.;Sumoylated. Sumoylation is required for targeting ot olfactory cilia. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Calcium signaling pathway;Chemokine signaling pathway;Oocyte meiosis;Vascular smooth muscle contraction;Gap junction;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Olfactory transduction;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;Vasopressin-regulated water reabsorption;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Bile secretion;Vibrio cholerae infection;HTLV-I infection;G alpha (i) signalling events;G alpha (s) signalling events;Hedgehog 'off' state;PKA activation;PKA activation in glucagon signalling;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G alpha (z) signalling events;Adenylate cyclase activating pathway;Adenylate cyclase inhibitory pathway PE1 2 +NX_O60268 Uncharacterized protein KIAA0513 411 46639 4.98 0 Nucleoplasm;Cytosol;Cytoplasm NA NA NA NA NA PE1 16 +NX_O60269 G protein-regulated inducer of neurite outgrowth 2 458 47450 6.28 0 NA NA May be involved in neurite outgrowth. NA NA NA PE1 10 +NX_O60271 C-Jun-amino-terminal kinase-interacting protein 4 1321 146205 5.05 0 Cytoplasm;Lysosome membrane;Centriolar satellite;Cytosol;Perinuclear region;Acrosome NA May play a role in spermatozoa-egg-interaction (PubMed:15693750). Regulates lysosomal positioning by acting as an adapter protein which links PIP4P1-positive lysosomes to the dynein-dynactin complex (PubMed:29146937).;The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module (PubMed:14743216). Phosphorylated by MAPK8 and MAPK14. Belongs to the JIP scaffold family. Myogenesis PE1 17 +NX_O60279 Sushi domain-containing protein 5 629 68021 4.79 1 Membrane;Golgi apparatus;Cytoplasmic vesicle NA NA NA NA NA PE1 3 +NX_O60281 Zinc finger protein 292 2723 304816 7.27 0 Nucleoplasm;Nucleus membrane;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 6 +NX_O60282 Kinesin heavy chain isoform 5C 957 109495 5.86 0 Cytoplasmic vesicle;Dendrite;Cytoskeleton Cortical dysplasia, complex, with other brain malformations 2 Involved in synaptic transmission (PubMed:24812067). Mediates dendritic trafficking of mRNAs (By similarity). Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation (By similarity). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin subfamily. Dopaminergic synapse;Insulin processing PE1 2 +NX_O60284 Suppression of tumorigenicity 18 protein 1047 115155 5.72 0 Nucleus NA Repressor that binds to DNA sequences containing a bipartite element consisting of a direct repeat of the sequence 5'-AAAGTTT-3' separated by 2-9 nucleotides. Represses basal transcription activity from target promoters (By similarity). Inhibits colony formation in cultured breast cancer cells. NA Belongs to the MYT1 family. NA PE1 8 +NX_O60285 NUAK family SNF1-like kinase 1 661 74305 8.97 0 Cytoplasm;Nucleolus;Nucleoplasm;Nucleus;Cytoskeleton NA Serine/threonine-protein kinase involved in various processes such as cell adhesion, regulation of cell ploidy and senescence, cell proliferation and tumor progression. Phosphorylates ATM, CASP6, LATS1, PPP1R12A and p53/TP53. Acts as a regulator of cellular senescence and cellular ploidy by mediating phosphorylation of 'Ser-464' of LATS1, thereby controlling its stability. Controls cell adhesion by regulating activity of the myosin protein phosphatase 1 (PP1) complex. Acts by mediating phosphorylation of PPP1R12A subunit of myosin PP1: phosphorylated PPP1R12A then interacts with 14-3-3, leading to reduced dephosphorylation of myosin MLC2 by myosin PP1. May be involved in DNA damage response: phosphorylates p53/TP53 at 'Ser-15' and 'Ser-392' and is recruited to the CDKN1A/WAF1 promoter to participate to transcription activation by p53/TP53. May also act as a tumor malignancy-associated factor by promoting tumor invasion and metastasis under regulation and phosphorylation by AKT1. Suppresses Fas-induced apoptosis by mediating phosphorylation of CASP6, thereby suppressing the activation of the caspase and the subsequent cleavage of CFLAR. Regulates UV radiation-induced DNA damage response mediated by CDKN1A. In association with STK11, phosphorylates CDKN1A in response to UV radiation and contributes to its degradation which is necessary for optimal DNA repair (PubMed:25329316). Ubiquitinated with 'Lys-29'- and 'Lys-33'-linked polyubiquitins which appear to impede LKB1-mediated phosphorylation. Deubiquitinated by USP9X.;Phosphorylated at Thr-211 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Not dephosphorylated by the myosin PP1 complex when regulating its activity, due to the presence of PPP1R12A, which prevents myosin PP1 from dephosphorylating NUAK1. Phosphorylated by STK38L upon stimulation with IGF1. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily. Regulation of TP53 Activity through Phosphorylation PE1 12 +NX_O60287 Nucleolar pre-ribosomal-associated protein 1 2271 254389 6.03 0 Nucleolus NA NA NA NA NA PE1 21 +NX_O60290 Zinc finger protein 862 1169 131654 6.87 0 Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 7 +NX_O60291 E3 ubiquitin-protein ligase MGRN1 552 60753 5.01 0 Cell membrane;Early endosome;Cytoplasmic vesicle;Cytosol;Nucleus NA E3 ubiquitin-protein ligase. Mediates monoubiquitination at multiple sites of TSG101 in the presence of UBE2D1, but not of UBE2G1, nor UBE2H. Plays a role in the regulation of endosome-to-lysosome trafficking. Impairs MC1R- and MC4R-signaling by competing with GNAS-binding to MCRs and inhibiting agonist-induced cAMP production. Does not inhibit ADRB2-signaling. Does not promote MC1R ubiquitination. Acts also as a negative regulator of hedgehog signaling (By similarity). Autoubiquitinated in vitro. NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation PE1 16 +NX_O60292 Signal-induced proliferation-associated 1-like protein 3 1781 194610 8.57 0 Golgi apparatus;Nucleoplasm;Apical cell membrane;Cell membrane Cataract 45 Plays a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization in the lens (PubMed:26231217). NA NA NA PE1 19 +NX_O60293 Zinc finger C3H1 domain-containing protein 1989 226356 8.39 0 Nucleoplasm;Nucleus;Cytoskeleton NA Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters. NA NA NA PE1 12 +NX_O60294 tRNA wybutosine-synthesizing protein 4 686 75602 6.25 0 Cytoplasmic vesicle;Nucleoplasm NA Probable S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA (By similarity). May methylate the carboxyl group of leucine residues to form alpha-leucine ester residues. NA Belongs to the methyltransferase superfamily. LCMT family. tRNA modification; wybutosine-tRNA(Phe) biosynthesis.;Synthesis of wybutosine at G37 of tRNA(Phe) PE1 15 +NX_O60296 Trafficking kinesin-binding protein 2 914 101419 5.15 0 Cytoplasm;Mitochondrion;Early endosome;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA May regulate endosome-to-lysosome trafficking of membrane cargo, including EGFR. O-glycosylated. Belongs to the milton family. GABAergic synapse PE1 2 +NX_O60299 Leucine zipper putative tumor suppressor 3 673 71791 7.56 0 Dendritic spine;Postsynaptic density;Synapse;Cytoplasmic vesicle;Dendrite;Cytoskeleton NA May be involved in promoting the maturation of dendritic spines, probably via regulating SIPA1L1 levels at the postsynaptic density of synapses. NA Belongs to the LZTS3 family. NA PE1 20 +NX_O60303 Protein KIAA0556 1618 180918 5.57 0 Nucleus speckle;Cell membrane;Cilium basal body;Cilium axoneme;Cytoskeleton Joubert syndrome 26 May influence the stability of microtubules (MT), possibly through interaction with the MT-severing katanin complex. NA NA NA PE1 16 +NX_O60304 Zinc finger protein 500 480 53674 6.84 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_O60306 RNA helicase aquarius 1485 171295 5.96 0 Nucleoplasm;Nucleus NA Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:25599396, PubMed:28502770, PubMed:28076346). Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprotein) biogenesis (PubMed:16949364). Plays a key role in position-dependent assembly of intron-encoded box C/D small snoRNP, splicing being required for snoRNP assembly (PubMed:16949364). May act by helping the folding of the snoRNA sequence. Binds to intron of pre-mRNAs in a sequence-independent manner, contacting the region between snoRNA and the branchpoint of introns (40 nucleotides upstream of the branchpoint) during the late stages of splicing (PubMed:16949364). Has ATP-dependent RNA helicase activity and can unwind double-stranded RNA molecules with a 3' overhang (in vitro) (PubMed:25599396). NA Belongs to the CWF11 family. Spliceosome;mRNA Splicing - Major Pathway;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER PE1 15 +NX_O60307 Microtubule-associated serine/threonine-protein kinase 3 1309 143137 8.24 0 Nucleus speckle NA NA NA Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. NA PE1 19 +NX_O60308 Centrosomal protein of 104 kDa 925 104448 7.54 0 Spindle pole;Centrosome;Cilium;Centriole Joubert syndrome 25 Required for ciliogenesis and for structural integrity at the ciliary tip. NA NA NA PE1 1 +NX_O60309 Leucine-rich repeat-containing protein 37A3 1634 180621 5.2 1 Membrane NA NA NA Belongs to the LRRC37A family. NA PE1 17 +NX_O60312 Probable phospholipid-transporting ATPase VA 1499 167688 8.7 10 Endoplasmic reticulum membrane;Cell membrane NA Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. Ion transport by P-type ATPases PE1 15 +NX_O60313 Dynamin-like 120 kDa protein, mitochondrial 960 111631 7.87 1 Mitochondrion;Mitochondrion intermembrane space;Nucleoplasm;Mitochondrion membrane;Mitochondrion inner membrane Dominant optic atrophy plus syndrome;Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type;Optic atrophy 1;Behr syndrome Dynamin-like 120 kDa protein, form S1: Inactive form produced by cleavage at S1 position by OMA1 following stress conditions that induce loss of mitochondrial membrane potential, leading to negative regulation of mitochondrial fusion.;Isoforms that contain the alternative exon 4b (present in isoform 4 and isoform 5) are required for mitochondrial genome maintenance, possibly by anchoring the mitochondrial nucleoids to the inner mitochondrial membrane.;Dynamin-related GTPase that is essential for normal mitochondrial morphology by regulating the equilibrium between mitochondrial fusion and mitochondrial fission (PubMed:16778770, PubMed:17709429, PubMed:20185555, PubMed:24616225, PubMed:28746876). Coexpression of isoform 1 with shorter alternative products is required for optimal activity in promoting mitochondrial fusion (PubMed:17709429). Binds lipid membranes enriched in negatively charged phospholipids, such as cardiolipin, and promotes membrane tubulation (PubMed:20185555). The intrinsic GTPase activity is low, and is strongly increased by interaction with lipid membranes (PubMed:20185555). Plays a role in remodeling cristae and the release of cytochrome c during apoptosis (By similarity). Proteolytic processing in response to intrinsic apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into the mitochondrial intermembrane space (By similarity). Plays a role in mitochondrial genome maintenance (PubMed:20974897, PubMed:18158317). PARL-dependent proteolytic processing releases an antiapoptotic soluble form not required for mitochondrial fusion. Cleaved by OMA1 at position S1 following stress conditions.;Cleavage at position S2 is mediated by YME1L (PubMed:17709429, PubMed:24616225, PubMed:27495975). Cleavage may occur in the sequence motif Leu-Gln-Gln-Gln-Ile-Gln (LQQQIQ) (PubMed:16778770). This motif is present in isoform 2, isoform 3, isoform 4 and isoform 7, but is absent in the displayed isoform 1 and in isoform 5. Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. Regulation of Apoptosis PE1 3 +NX_O60315 Zinc finger E-box-binding homeobox 2 1214 136447 5.9 0 Nucleoplasm;Nucleus;Nucleolus;Cytosol Mowat-Wilson syndrome Transcriptional inhibitor that binds to DNA sequence 5'-CACCT-3' in different promoters. Represses transcription of E-cadherin. Sumoylation on Lys-391 and Lys-866 is promoted by the E3 SUMO-protein ligase CBX4, and impairs interaction with CTBP1 and transcription repression activity. Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family. NA PE1 2 +NX_O60318 Germinal-center associated nuclear protein 1980 218405 5.99 0 Cytoplasm;Nuclear pore complex;Nucleus membrane;Chromosome;Nucleoplasm;Nucleus envelope;Cytosol;Nucleus Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development Binds to and acetylates the replication protein MCM3. Plays a role in the initiation of DNA replication and participates in controls that ensure that DNA replication initiates only once per cell cycle (PubMed:11258703, PubMed:12226073). Through the acetylation of histones, affects the assembly of nucleosomes at immunoglobulin variable region genes and promotes the recruitment and positioning of transcription complex to favor DNA cytosine deaminase AICDA/AID targeting, hence promoting somatic hypermutations (PubMed:23652018).;As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (PubMed:20005110, PubMed:20384790, PubMed:23591820, PubMed:22307388). Through the acetylation of histones, affects the assembly of nucleosomes at immunoglobulin variable region genes and promotes the recruitment and positioning of transcription complex to favor DNA cytosine deaminase AICDA/AID targeting, hence promoting somatic hypermutations (PubMed:23652018). MCM3AP is phosphorylated by CDK2 Belongs to the SAC3 family. NA PE1 21 +NX_O60320 Protein FAM189A1 539 56544 5.18 4 Membrane;Nucleoplasm NA NA NA Belongs to the FAM189 family. NA PE2 15 +NX_O60330 Protocadherin gamma-A12 932 100955 4.9 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_O60331 Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma 668 73260 5.17 0 Cytoplasm;Cell membrane;Endomembrane system;Adherens junction;Focal adhesion;Nucleoplasm;Uropodium;Phagocytic cup;Ruffle membrane;Cytosol;Nucleus Lethal congenital contracture syndrome 3 Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). PtdIns(4,5)P2 is involved in a variety of cellular processes and is the substrate to form phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3), another second messenger. The majority of PtdIns(4,5)P2 is thought to occur via type I phosphatidylinositol 4-phosphate 5-kinases given the abundance of PtdIns4P. Participates in a variety of cellular processes such as vesicle mediated transport, cell adhesion, cell polarization and cell migration. Together with PIP5K1A is required for phagocytosis, but they regulate different types of actin remodeling at sequential steps. Promotes particle attachment by generating the pool of PtdIns(4,5)P2 that induces controlled actin depolymerization to facilitate Fc-gamma-R clustering. Mediates RAC1-dependent reorganization of actin filaments. Required for synaptic vesicle transport. Controls the plasma membrane pool of PtdIns(4,5)P2 implicated in synaptic vesicle endocytosis and exocytosis. Plays a role in endocytosis mediated by clathrin and AP-2 (adaptor protein complex 2). Required for clathrin-coated pits assembly at the synapse. Participates in cell junction assembly. Modulates adherens junctions formation by facilitating CDH1 trafficking. Required for focal adhesion dynamics. Modulates the targeting of talins (TLN1 and TLN2) to the plasma membrane and their efficient assembly into focal adhesions. Regulates the interaction between talins (TLN1 and TLN2) and beta-integrins. Required for uropodium formation and retraction of the cell rear during directed migration. Has a role in growth factor- stimulated directional cell migration and adhesion. Required for talin assembly into nascent adhesions forming at the leading edge toward the direction of the growth factor. Negative regulator of T-cell activation and adhesion. Negatively regulates integrin alpha-L/beta-2 (LFA-1) polarization and adhesion induced by T-cell receptor. Together with PIP5K1A has a role during embryogenesis and together with PIP5K1B may have a role immediately after birth. Acetylation at Lys-265 and Lys-268 seems to decrease lipid kinase activity. Deacetylation of these sites by SIRT1 positively regulates the exocytosis of TSH-containing granules from pituitary cells.;Phosphorylation on Ser-650 negatively regulates binding to TLN2 and is strongly stimulated in mitosis. Phosphorylation on Tyr-649 is necessary for targeting to focal adhesions. Phosphorylation on Ser-650 and Tyr-649 are mutually exclusive. Phosphorylated by SYK and CSK (By similarity). Tyrosine phosphorylation is enhanced by PTK2 signaling. Phosphorylated at Tyr-639 upon EGF stimulation. Some studies suggest that phosphorylation on Tyr-649 enhances binding to tailins (TLN1 and TLN2). According to PubMed:15738269 phosphorylation at Tyr-649 does not directly enhance binding to tailins (TLN1 and TLN2) but may act indirectly by inhibiting phosphorylation at Ser-650.;PIP5K1C is phosphorylated by MAPK8 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Endocytosis;Focal adhesion;Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Synthesis of PIPs at the plasma membrane;SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Clathrin-mediated endocytosis PE1 19 +NX_O60333 Kinesin-like protein KIF1B 1816 204476 5.42 0 Mitochondrion;Synaptic vesicle;Cytoskeleton Neuroblastoma 1;Charcot-Marie-Tooth disease 2A1;Pheochromocytoma Is required for induction of neuronal apoptosis.;Mediates the transport of synaptic vesicles in neuronal cells.;Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 1 +NX_O60336 Mitogen-activated protein kinase-binding protein 1 1514 163818 6.31 0 Cytoplasm;Nucleolus;Nucleoplasm;Spindle pole;Nucleus Nephronophthisis 20 Negative regulator of NOD2 function. It down-regulates NOD2-induced processes such as activation of NF-kappa-B signaling, IL8 secretion and antibacterial response (PubMed:22700971). Involved in JNK signaling pathway (By similarity). NA NA NA PE1 15 +NX_O60337 E3 ubiquitin-protein ligase MARCH6 910 102545 5.85 14 Endoplasmic reticulum;Endoplasmic reticulum membrane NA E3 ubiquitin-protein ligase that promotes 'Lys-48'-linked ubiquitination of target proteins, leading to their proteasomal degradation (PubMed:15673284). Promotes ubiquitination of DIO2, leading to its degradation (PubMed:19651899). Promotes ubiquitination of SQLE, leading to its degradation (PubMed:24449766). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May cooperate with UBE2G1 (PubMed:15673284). Auto-ubiquitinated, which results in proteasomal degradation. NA Protein modification; protein ubiquitination.;Protein processing in endoplasmic reticulum;ER Quality Control Compartment (ERQC) PE1 5 +NX_O60341 Lysine-specific histone demethylase 1A 852 92903 6.11 0 Nucleoplasm;Cytosol;Nucleus Cleft palate, psychomotor retardation, and distinctive facial features Histone demethylase that can demethylate both 'Lys-4' (H3K4me) and 'Lys-9' (H3K9me) of histone H3, thereby acting as a coactivator or a corepressor, depending on the context (PubMed:15620353, PubMed:15811342, PubMed:16140033, PubMed:16079794, PubMed:16079795, PubMed:16223729). Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed (PubMed:15620353, PubMed:15811342, PubMed:16079794, PubMed:21300290). Acts as a corepressor by mediating demethylation of H3K4me, a specific tag for epigenetic transcriptional activation. Demethylates both mono- (H3K4me1) and di-methylated (H3K4me2) H3K4me (PubMed:15620353, PubMed:20389281, PubMed:21300290, PubMed:23721412). May play a role in the repression of neuronal genes. Alone, it is unable to demethylate H3K4me on nucleosomes and requires the presence of RCOR1/CoREST to achieve such activity (PubMed:16140033, PubMed:16079794, PubMed:16885027, PubMed:21300290, PubMed:23721412). Also acts as a coactivator of androgen receptor (ANDR)-dependent transcription, by being recruited to ANDR target genes and mediating demethylation of H3K9me, a specific tag for epigenetic transcriptional repression. The presence of PRKCB in ANDR-containing complexes, which mediates phosphorylation of 'Thr-6' of histone H3 (H3T6ph), a specific tag that prevents demethylation H3K4me, prevents H3K4me demethylase activity of KDM1A (PubMed:16079795). Demethylates di-methylated 'Lys-370' of p53/TP53 which prevents interaction of p53/TP53 with TP53BP1 and represses p53/TP53-mediated transcriptional activation. Demethylates and stabilizes the DNA methylase DNMT1. Required for gastrulation during embryogenesis. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. Effector of SNAI1-mediated transcription repression of E-cadherin/CDH1, CDN7 and KRT8. Required for the maintenance of the silenced state of the SNAI1 target genes E-cadherin/CDH1 and CDN7 (PubMed:20389281). Polyubiquitinated by JADE2; which leads to its proteasomal degradation. Belongs to the flavin monoamine oxidase family. Factors involved in megakaryocyte development and platelet production;HDACs deacetylate histones;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;HDMs demethylate histones;Regulation of PTEN gene transcription;Estrogen-dependent gene expression PE1 1 +NX_O60343 TBC1 domain family member 4 1298 146563 6.57 0 Cytoplasm;Cytosol Diabetes mellitus, non-insulin-dependent, 5 May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14.;Promotes insulin-induced glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose uptake. Phosphorylated by AKT1; insulin-induced. Also phosphorylated by AMPK in response to insulin. Insulin-stimulated phosphorylation is required for SLC2A4/GLUT4 translocation. Has no effect on SLC2A4/GLUT4 internalization. Physiological hyperinsulinemia increases phosphorylation in skeletal muscle. Insulin-stimulated phosphorylation is reduced by 39% in type 2 diabetic patients.;TBC1D4 is phosphorylated by WNK1 NA Translocation of SLC2A4 (GLUT4) to the plasma membrane PE1 13 +NX_O60346 PH domain leucine-rich repeat-containing protein phosphatase 1 1717 184672 5.88 0 Membrane;Cytoplasm;Nucleus;Cell membrane NA Protein phosphatase involved in regulation of Akt and PKC signaling. Mediates dephosphorylation in the C-terminal domain hydrophobic motif of members of the AGC Ser/Thr protein kinase family; specifically acts on 'Ser-473' of AKT2 and AKT3, 'Ser-660' of PRKCB and 'Ser-657' of PRKCA (PubMed:15808505, PubMed:17386267, PubMed:18162466).;Seems to have a major role in regulating Akt signaling in hippocampal neurons (By similarity). Akt regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors that regulate pro- and antiapoptotic genes. Dephosphorylation of 'Ser-473' of Akt triggers apoptosis and suppression of tumor growth. Dephosphorylation of PRKCA and PRKCB leads to their destabilization and degradation (PubMed:18162466). Dephosphorylates STK4 on 'Thr-387' leading to STK4 activation and apoptosis (PubMed:20513427). Dephosphorylates RPS6KB1 and is involved in regulation of cap-dependent translation (PubMed:21986499). Inhibits cancer cell proliferation and may act as a tumor suppressor (PubMed:19079341). Dephosphorylates RAF1 inhibiting its kinase activity (PubMed:24530606). May act as a negative regulator of K-Ras signaling in membrane rafts (By similarity). Involved in the hippocampus-dependent long-term memory formation (By similarity). Involved in circadian control by regulating the consolidation of circadian periodicity after resetting (By similarity). Involved in development and function of regulatory T-cells (By similarity). NA NA Negative regulation of the PI3K/AKT network PE1 18 +NX_O60347 TBC1 domain family member 12 775 85626 5.56 0 Nucleoplasm;Endosome;Nucleus speckle NA RAB11A-binding protein that plays a role in neurite outgrowth. NA NA NA PE1 10 +NX_O60353 Frizzled-6 706 79292 8.29 7 Endoplasmic reticulum membrane;Cell membrane;Membrane;Cell surface;Cytoplasmic vesicle membrane;Apical cell membrane Nail disorder, non-syndromic congenital, 10 Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Together with FZD3, is involved in the neural tube closure and plays a role in the regulation of the establishment of planar cell polarity (PCP), particularly in the orientation of asymmetric bundles of stereocilia on the apical faces of a subset of auditory and vestibular sensory cells located in the inner ear (By similarity). Ubiquitinated by ZNRF3, leading to its degradation by the proteasome. Belongs to the G-protein coupled receptor Fz/Smo family. Wnt signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;Class B/2 (Secretin family receptors);PCP/CE pathway;Ca2+ pathway;Regulation of FZD by ubiquitination;RNF mutants show enhanced WNT signaling and proliferation PE1 8 +NX_O60356 Nuclear protein 1 82 8873 9.98 0 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus NA Transcription regulator that converts stress signals into a program of gene expression that empowers cells with resistance to the stress induced by a change in their microenvironment. Thereby participates in regulation of many process namely cell-cycle, apoptosis, autophagy and DNA repair responses (PubMed:16478804, PubMed:19650074, PubMed:16300740, PubMed:19723804, PubMed:11056169, PubMed:22858377, PubMed:11940591, PubMed:18690848, PubMed:22565310, PubMed:20181828, PubMed:30451898). Controls cell cycle progression and protects cells from genotoxic stress induced by doxorubicin through the complex formation with TP53 and EP300 that binds CDKN1A promoter leading to transcriptional induction of CDKN1A (PubMed:18690848). Protects pancreatic cancer cells from stress-induced cell death by binding the RELB promoter and activating its transcription, leading to IER3 transactivation (PubMed:22565310). Negatively regulates apoptosis through interaction with PTMA (PubMed:16478804). Inhibits autophagy-induced apoptosis in cardiac cells through FOXO3 interaction, inducing cytoplasmic translocation of FOXO3 thereby preventing the FOXO3 association with the pro-autophagic BNIP3 promoter (PubMed:20181828). Inhibits cell growth and facilitates programmed cell death by apoptosis after adriamycin-induced DNA damage through transactivation of TP53 (By similarity). Regulates methamphetamine-induced apoptosis and autophagy through DDIT3-mediated endoplasmic reticulum stress pathway (By similarity). Participates to DNA repair following gamma-irradiation by facilitating DNA access of the transcription machinery through interaction with MSL1 leading to inhibition of histone H4' Lys-16' acetylation (H4K16ac) (PubMed:19650074). Coactivator of PAX2 transcription factor activity, both by recruiting EP300 to increase PAX2 transcription factor activity and by binding PAXIP1 to suppress PAXIP1-induced inhibition on PAX2 (PubMed:11940591). Positively regulates cell cycle progression through interaction with COPS5 inducing cytoplasmic translocation of CDKN1B leading to the CDKN1B degradation (PubMed:16300740). Coordinates, through its interaction with EP300, the assiociation of MYOD1, EP300 and DDX5 to the MYOG promoter, leading to inhibition of cell-cycle progression and myogenic differentiation promotion (PubMed:19723804). Negatively regulates beta cell proliferation via inhibition of cell-cycle regulatory genes expression through the suppression of their promoter activities (By similarity). Also required for LHB expression and ovarian maturation (By similarity). Exacerbates CNS inflammation and demyelination upon cuprizone treatment (By similarity). Phosphorylated in vitro by PKA and CK. Phosphorylation promotes DNA-binding activity.;Acetylated by EP300 in vitro. Belongs to the NUPR family. NA PE1 16 +NX_O60359 Voltage-dependent calcium channel gamma-3 subunit 315 35549 9.53 4 Membrane NA Regulates the trafficking to the somatodendritic compartment and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state. NA Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. MAPK signaling pathway;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Trafficking of AMPA receptors;LGI-ADAM interactions;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 16 +NX_O60361 Putative nucleoside diphosphate kinase 137 15529 8.76 0 NA NA Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate (By similarity). NA Belongs to the NDK family. Interconversion of nucleotide di- and triphosphates PE5 12 +NX_O60381 HMG box-containing protein 1 514 57645 5.79 0 Nucleus speckle;Nucleus NA Transcriptional repressor that binds to the promoter region of target genes. Plays a role in the regulation of the cell cycle and of the Wnt pathway. Binds preferentially to the sequence 5'-TTCATTCATTCA-3'. Binding to the H1F0 promoter is enhanced by interaction with RB1. Disrupts the interaction between DNA and TCF4. Ubiquitinated by the CTLH E3 ubiquitin-protein ligase complex, leading to subsequent proteasomal degradation. NA NA PE1 7 +NX_O60383 Growth/differentiation factor 9 454 51444 9.19 0 Secreted Premature ovarian failure 14 Required for ovarian folliculogenesis. Promotes primordial follicle development. Stimulates granulosa cell proliferation. Promotes cell transition from G0/G1 to S and G2/M phases, through an increase of CCND1 and CCNE1 expression, and RB1 phosphorylation. It regulates STAR expression and cAMP-dependent progesterone release in granulosa and thecal cells. Attenuates the suppressive effects of activin A on STAR expression and progesterone production by increasing the expression of inhibin B. It suppresses FST and FSTL3 production in granulosa-lutein cells. Phosphorylated; phosphorylation is critical for GDF9 function. In vitro, can be phosphorylated by CK at Ser-325. Belongs to the TGF-beta family. NA PE1 5 +NX_O60384 Putative zinc finger protein 861 105 11997 8.91 0 NA NA NA NA NA NA PE5 19 +NX_O60391 Glutamate receptor ionotropic, NMDA 3B 1043 112992 9.37 3 Cell membrane;Postsynaptic cell membrane NA NMDA receptor subtype of glutamate-gated ion channels with reduced single-channel conductance, low calcium permeability and low voltage-dependent sensitivity to magnesium. Mediated by glycine. NA Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR3B/GRIN3B subfamily. Neuroactive ligand-receptor interaction;Glutamatergic synapse;Assembly and cell surface presentation of NMDA receptors PE2 19 +NX_O60393 Homeobox protein NOBOX 691 73906 5.79 0 Nucleus Premature ovarian failure 5 Transcription factor which may play a role in oogenesis. Binds preferentially to the DNA sequences 5'-TAATTG-3', 5'-TAGTTG-3' and 5'-TAATTA-3'. NA NA NA PE1 7 +NX_O60397 Putative cytochrome c oxidase subunit 7A3, mitochondrial 106 11841 9.57 0 Mitochondrion inner membrane NA NA NA Belongs to the cytochrome c oxidase VIIa family. NA PE5 4 +NX_O60403 Olfactory receptor 10H2 315 34663 8.71 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 19 +NX_O60404 Olfactory receptor 10H3 316 35721 9.22 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 19 +NX_O60412 Olfactory receptor 7C2 319 35323 7.99 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 19 +NX_O60422 One cut domain family member 3 494 50037 9.9 0 Nucleoplasm;Nucleus NA Transcriptional activator. Binds the consensus DNA sequence 5'-DHWATTGAYTWWD-3' on a variety of gene promoters such as those of HNF3B and TTR (By similarity). NA Belongs to the CUT homeobox family. Regulation of gene expression in early pancreatic precursor cells;Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells PE1 19 +NX_O60423 Phospholipid-transporting ATPase IK 1300 146752 8.18 10 Acrosome membrane;Endoplasmic reticulum membrane NA P4-ATPase flippase which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. May be responsible for the maintenance of asymmetric distribution of phosphatidylserine (PS) in spermatozoa membranes. Involved in acrosome reactions and binding of spermatozoa to zona pellucida. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. Ion transport by P-type ATPases PE1 19 +NX_O60427 Acyl-CoA (8-3)-desaturase 444 51964 8.98 4 Endoplasmic reticulum membrane;Mitochondrion NA Does not exhibit any catalytic activity toward 20:3n-6, but it may enhance FADS2 activity.;Acts as a front-end fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 5 located between a preexisting double bond and the carboxyl end of the fatty acyl chain. Involved in biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors. Specifically, desaturates dihomo-gamma-linoleoate (DGLA) (20:3n-6) and eicosatetraenoate (ETA) (20:4n-3) to generate arachidonate (AA) (20:4n-6) and eicosapentaenoate (EPA) (20:5n-3), respectively (PubMed:10601301, PubMed:10769175). As a rate limiting enzyme for DGLA (20:3n-6) and AA (20:4n-6)-derived eicosanoid biosynthesis, controls the metabolism of inflammatory lipids like prostaglandin E2, critical for efficient acute inflammatory response and maintenance of epithelium homeostasis. Contributes to membrane phospholipid biosynthesis by providing AA (20:4n-6) as a major acyl chain esterified into phospholipids. In particular, regulates phosphatidylinositol-4,5-bisphosphate levels, modulating inflammatory cytokine production in T-cells (By similarity). Also desaturates (11E)-octadecenoate (trans-vaccenoate)(18:1n-9), a metabolite in the biohydrogenation pathway of LA (18:2n-6) (By similarity). NA Belongs to the fatty acid desaturase type 1 family. Lipid metabolism; polyunsaturated fatty acid biosynthesis.;Biosynthesis of unsaturated fatty acids;PPARA activates gene expression;Linoleic acid (LA) metabolism;alpha-linolenic acid (ALA) metabolism PE1 11 +NX_O60431 Olfactory receptor 1I1 355 39297 7.14 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 19 +NX_O60437 Periplakin 1756 204747 5.47 0 Desmosome;Mitochondrion;Cell membrane;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments. May act as a localization signal in PKB/AKT-mediated signaling. NA Belongs to the plakin or cytolinker family. Formation of the cornified envelope;Butyrophilin (BTN) family interactions PE1 16 +NX_O60443 Gasdermin-E 496 54555 5.03 0 Cytosol;Cell membrane Deafness, autosomal dominant, 5 Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53 (PubMed:16897187, PubMed:18223688).;Gasdermin-E, N-terminal: Switches CASP3-mediated apoptosis induced by TNF or danger signals, such as chemotherapy drugs, to pyroptosis (PubMed:28459430, PubMed:27281216). Produced by the cleavage of GSDME by CASP3, perforates cell membrane and thereby induces pyroptosis. After cleavage, moves to the plasma membrane where it strongly binds to inner leaflet lipids, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate (PubMed:28459430). Mediates secondary necrosis downstream of the mitochondrial apoptotic pathway and CASP3 activation as well as in response to viral agents (PubMed:28045099). Exhibits bactericidal activity (PubMed:27281216). Cleavage at Asp-270 by CASP3 (mature and uncleaved precursor forms) relieves autoinhibition and is sufficient to initiate pyroptosis. Belongs to the gasdermin family. NA PE1 7 +NX_O60447 Ecotropic viral integration site 5 protein homolog 810 92949 5.78 0 Spindle;Centrosome;Nucleus NA Functions as a regulator of cell cycle progression by stabilizing the FBXO5 protein and promoting cyclin-A accumulation during interphase. May play a role in cytokinesis. Ubiquitinated. Degradation during prophase is ubiquitin-dependent.;Probably phosphorylated by PLK1; may be required for degradation during mitosis.;EVI5 is phosphorylated by PLK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA NA PE1 1 +NX_O60449 Lymphocyte antigen 75 1722 198311 6.22 1 Membrane;Golgi apparatus NA Acts as an endocytic receptor to direct captured antigens from the extracellular space to a specialized antigen-processing compartment (By similarity). Causes reduced proliferation of B-lymphocytes. N-glycosylated. NA NA PE1 2 +NX_O60462 Neuropilin-2 931 104831 5.04 1 Membrane;Cytoplasmic vesicle;Secreted;Cell membrane NA High affinity receptor for semaphorins 3C, 3F, VEGF-165 and VEGF-145 isoforms of VEGF, and the PLGF-2 isoform of PGF.;(Microbial infection) Acts as a receptor for human cytomegalovirus pentamer-dependent entry in epithelial and endothelial cells. NA Belongs to the neuropilin family. NrCAM interactions;Neurophilin interactions with VEGF and VEGFR PE1 2 +NX_O60469 Down syndrome cell adhesion molecule 2012 222260 7.78 1 Cell membrane;Growth cone;Secreted;Nucleoplasm;Synapse;Cytosol;Axon;Dendrite NA Cell adhesion molecule that plays a role in neuronal self-avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Mediates within retinal amacrine and ganglion cell subtypes both isoneuronal self-avoidance for creating an orderly dendritic arborization and heteroneuronal self-avoidance to maintain the mosaic spacing between amacrine and ganglion cell bodies (PubMed:10925149). Receptor for netrin required for axon guidance independently of and in collaboration with the receptor DCC. Might also collaborate with UNC5C in NTN1-mediated axon repulsion independently of DCC (By similarity). In spinal cord development plays a role in guiding commissural axons projection and pathfinding across the ventral midline to reach the floor plate upon ligand binding (PubMed:18585357, PubMed:19196994). Enhances netrin-induced phosphorylation of PAK1 and FYN (PubMed:15169762). Mediates intracellular signaling by stimulating the activation of MAPK8 and MAP kinase p38 (PubMed:18585357, PubMed:19196994). Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions (By similarity). Phosphorylated at tyrosine residues. Phosphorylation is enhanced by NTN1. NA DSCAM interactions PE1 21 +NX_O60476 Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB 641 73004 7.17 1 Golgi apparatus;Golgi apparatus membrane NA Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2). NA Belongs to the glycosyl hydrolase 47 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Protein processing in endoplasmic reticulum;Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2;Intra-Golgi traffic PE1 1 +NX_O60477 BMP/retinoic acid-inducible neural-specific protein 1 761 88760 9.15 0 Cytoplasm;Cytoskeleton NA Inhibits cell proliferation by negative regulation of the G1/S transition. Mediates cell death which is not of the classical apoptotic type and regulates expression of components of the plasminogen pathway. NA Belongs to the BRINP family. NA PE1 9 +NX_O60478 Integral membrane protein GPR137B 399 45599 8.95 7 Lysosome membrane NA NA NA Belongs to the GPR137 family. NA PE1 1 +NX_O60479 Homeobox protein DLX-3 287 31738 8.98 0 Nucleus Amelogenesis imperfecta 4;Trichodentoosseous syndrome Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis. NA Belongs to the distal-less homeobox family. NA PE1 17 +NX_O60481 Zinc finger protein ZIC 3 467 50569 8.89 0 Nucleoplasm;Cytoplasm;Nucleus Heterotaxy, visceral, 1, X-linked;VACTERL association X-linked with or without hydrocephalus;Congenital heart defects, multiple types, 1, X-linked Acts as transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'. NA Belongs to the GLI C2H2-type zinc-finger protein family. Transcriptional regulation of pluripotent stem cells;POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation PE1 X +NX_O60486 Plexin-C1 1568 175742 7.78 1 Membrane;Mitochondrion NA Receptor for SEMA7A, for smallpox semaphorin A39R, vaccinia virus semaphorin A39R and for herpesvirus Sema protein. Binding of semaphorins triggers cellular responses leading to the rearrangement of the cytoskeleton and to secretion of IL6 and IL8 (By similarity). N-glycosylated. Belongs to the plexin family. Axon guidance;Other semaphorin interactions PE1 12 +NX_O60487 Myelin protein zero-like protein 2 215 24484 6.53 1 Membrane;Cell junction Deafness, autosomal recessive, 111 Mediates homophilic cell-cell adhesion. NA Belongs to the myelin P0 protein family. NA PE1 11 +NX_O60488 Long-chain-fatty-acid--CoA ligase 4 711 79188 8.66 1 Microsome membrane;Golgi apparatus;Mitochondrion outer membrane;Endoplasmic reticulum membrane;Mitochondrion;Cell membrane;Peroxisome membrane Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis;Mental retardation, X-linked 63 Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:24269233, PubMed:22633490, PubMed:21242590). Preferentially activates arachidonate and eicosapentaenoate as substrates (PubMed:21242590). Preferentially activates 8,9-EET > 14,15-EET > 5,6-EET > 11,12-EET. Modulates glucose-stimulated insulin secretion by regulating the levels of unesterified EETs (By similarity). Modulates prostaglandin E2 secretion (PubMed:21242590). NA Belongs to the ATP-dependent AMP-binding enzyme family. Fatty acid metabolism;Metabolic pathways;PPAR signaling pathway;Peroxisome;Adipocytokine signaling pathway;Synthesis of very long-chain fatty acyl-CoAs;Intracellular metabolism of fatty acids regulates insulin secretion PE1 X +NX_O60493 Sorting nexin-3 162 18762 8.71 0 Cytoplasm;Early endosome;Phagosome NA Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Also can bind phosphatidylinositol 4-phosphate (PtdIns(P4)), phosphatidylinositol 5-phosphate (PtdIns(P5)) and phosphatidylinositol 3,5-biphosphate (PtdIns(3,5)P2) (By similarity). Plays a role in protein transport between cellular compartments. Together with RAB7A facilitates endosome membrane association of the retromer cargo-selective subcomplex (CSC/VPS). May in part act as component of the SNX3-retromer complex which mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway (PubMed:21725319, PubMed:24344282). Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G (By similarity). Not involved in EGFR degradation. Involved in the regulation of phagocytosis in dendritic cells possibly by regulating EEA1 recruitment to the nascent phagosomes (PubMed:23237080). Involved in iron homeostasis through regulation of endocytic recycling of the transferrin receptor TFRC presumably by delivering the transferrin:transferrin receptor complex to recycling endosomes; the function may involve the CSC retromer subcomplex (By similarity). In the case of Salmonella enterica infection plays arole in maturation of the Salmonella-containing vacuole (SCV) and promotes recruitment of LAMP1 to SCVs (PubMed:20482551). Ubiquitinated, leading to its proteasomal degradation. Deubiquitinated by USP10 (By similarity). Belongs to the sorting nexin family. WNT ligand biogenesis and trafficking;Ub-specific processing proteases PE1 6 +NX_O60494 Cubilin 3623 398736 5.14 0 Cell membrane;Coated pit;Lysosome membrane;Endosome;Apical cell membrane Recessive hereditary megaloblastic anemia 1 Endocytic receptor which plays a role in lipoprotein, vitamin and iron metabolism by facilitating their uptake (PubMed:9572993, PubMed:10371504, PubMed:11717447, PubMed:11606717, PubMed:14576052). Acts together with LRP2 to mediate endocytosis of high-density lipoproteins, GC, hemoglobin, ALB, TF and SCGB1A1. Acts together with AMN to mediate endocytosis of the CBLIF-cobalamin complex (PubMed:9572993, PubMed:14576052). Binds to ALB, MB, Kappa and lambda-light chains, TF, hemoglobin, GC, SCGB1A1, APOA1, high density lipoprotein, and the CBLIF-cobalamin complex. Ligand binding requires calcium (PubMed:9572993). Serves as important transporter in several absorptive epithelia, including intestine, renal proximal tubules and embryonic yolk sac. May play an important role in the development of the peri-implantation embryo through internalization of APOA1 and cholesterol. Binds to LGALS3 at the maternal-fetal interface. The precursor is cleaved by a trans-Golgi proteinase furin, removing a propeptide.;N-glycosylated. NA Vitamin digestion and absorption;Cobalamin (Cbl, vitamin B12) transport and metabolism;Vitamin D (calciferol) metabolism;Defective AMN causes hereditary megaloblastic anemia 1;Defective CUBN causes hereditary megaloblastic anemia 1;HDL clearance PE1 10 +NX_O60496 Docking protein 2 412 45379 5.78 0 NA NA DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK2 may modulate the cellular proliferation induced by IL-4, as well as IL-2 and IL-3. May be involved in modulating Bcr-Abl signaling. Attenuates EGF-stimulated MAP kinase activation (By similarity). On immunoreceptor stimulation, phosphorylated on C-terminal tyrosine residues. Phosphorylation on Tyr-345 is required for binding to the SH2 domain of NCK. Phosphorylation on both Tyr-271 and Tyr-299 is required for interaction with RASGAP. Phosphorylated on tyrosine residues by TEK/TIE2 (By similarity).;DOK2 is phosphorylated by TEK (Phosphotyrosine:PTM-0255) Belongs to the DOK family. Type A subfamily. Tie2 Signaling;RET signaling PE1 8 +NX_O60499 Syntaxin-10 249 28114 4.81 1 Golgi apparatus;Golgi apparatus membrane NA SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network. NA Belongs to the syntaxin family. SNARE interactions in vesicular transport;Retrograde transport at the Trans-Golgi-Network PE1 19 +NX_O60500 Nephrin 1241 134742 5.42 1 Cell membrane Nephrotic syndrome 1 Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity). Phosphorylated at Tyr-1193 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1. Belongs to the immunoglobulin superfamily. Nephrin family interactions PE1 19 +NX_O60502 Protein O-GlcNAcase 916 102915 4.82 0 Cytoplasm;Cytosol;Nucleus NA Cleaves GlcNAc but not GalNAc from O-glycosylated proteins. Can use p-nitrophenyl-beta-GlcNAc as substrate but not p-nitrophenyl-beta-GalNAc or p-nitrophenyl-alpha-GlcNAc (in vitro), but has about six times lower specific activity than isoform 1.;Cleaves GlcNAc but not GalNAc from O-glycosylated proteins. Can use p-nitrophenyl-beta-GlcNAc and 4-methylumbelliferone-GlcNAc as substrates but not p-nitrophenyl-beta-GalNAc or p-nitrophenyl-alpha-GlcNAc (in vitro) (PubMed:11148210). Does not bind acetyl-CoA and does not have histone acetyltransferase activity (PubMed:24088714). Proteolytically cleaved by caspase-3 during apoptosis. The fragments interact with each other; cleavage does not decrease enzyme activity. Belongs to the glycosyl hydrolase 84 family. NA PE1 10 +NX_O60503 Adenylate cyclase type 9 1353 150701 7.07 12 Cytosol;Cell membrane NA Adenylyl cyclase that catalyzes the formation of the signaling molecule cAMP in response to activation of G protein-coupled receptors (PubMed:9628827, PubMed:12972952, PubMed:15879435, PubMed:10987815). Contributes to signaling cascades activated by CRH (corticotropin-releasing factor), corticosteroids and beta-adrenergic receptors (PubMed:9628827). NA Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Calcium signaling pathway;Chemokine signaling pathway;Oocyte meiosis;Vascular smooth muscle contraction;Gap junction;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;Endocrine and other factor-regulated calcium reabsorption;Vasopressin-regulated water reabsorption;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Bile secretion;Vibrio cholerae infection;HTLV-I infection;G alpha (i) signalling events;G alpha (s) signalling events;Hedgehog 'off' state;PKA activation;PKA activation in glucagon signalling;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G alpha (z) signalling events;Adenylate cyclase activating pathway;Adenylate cyclase inhibitory pathway PE1 16 +NX_O60504 Vinexin 671 75341 9.48 0 Cell junction;Focal adhesion;Cytosol;Nucleus;Cytoskeleton NA Vinexin alpha isoform promotes up-regulation of actin stress fiber formation. Vinexin beta isoform plays a role in cell spreading and enhances the activation of JNK/SAPK in response to EGF stimulation by using its third SH3 domain. Phosphorylated at Ser-530 by MAPK1/ERK2 during cell spreading. NA Smooth Muscle Contraction PE1 8 +NX_O60506 Heterogeneous nuclear ribonucleoprotein Q 623 69603 8.68 0 Cytoplasm;Microsome;Endoplasmic reticulum;Nucleoplasm;Cytosol;Nucleus NA Heterogenous nuclear ribonucleoprotein (hnRNP) implicated in mRNA processing mechanisms. Component of the CRD-mediated complex that promotes MYC mRNA stability.;Are associated in vitro with pre-mRNA, splicing intermediates and mature mRNA protein complexes.;Binds to apoB mRNA AU-rich sequences.;May be involved in cytoplasmic vesicle-based mRNA transport through interaction with synaptotagmins. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes. Upon interferon-gamma activation assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation; seems not to be essential for GAIT complex function.;Is part of the APOB mRNA editosome complex and may modulate the postranscriptional C to U RNA-editing of the APOB mRNA through either by binding to A1CF (APOBEC1 complementation factor), to APOBEC1 or to RNA itself. May be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. Interacts in vitro preferentially with poly(A) and poly(U) RNA sequences. Phosphorylated on tyrosine. The membrane-bound form found in microsomes is phosphorylated in vitro by insulin receptor tyrosine kinase (INSR). Phosphorylation is inhibited upon binding to RNA, whereas the cytoplasmic form is poorly phosphorylated (By similarity). NA NA PE1 6 +NX_O60507 Protein-tyrosine sulfotransferase 1 370 42188 9.21 1 Golgi apparatus;Golgi apparatus membrane NA Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3'-phosphoadenylyl sulfate (PAPS) as cosubstrate. N-glycosylated. Belongs to the protein sulfotransferase family. Cytosolic sulfonation of small molecules PE1 7 +NX_O60508 Pre-mRNA-processing factor 17 579 65521 6.62 0 Nucleoplasm;Nucleus speckle;Nucleus NA Required for pre-mRNA splicing as component of the activated spliceosome. NA NA Spliceosome;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 6 +NX_O60512 Beta-1,4-galactosyltransferase 3 393 43928 9.34 1 Golgi stack membrane;Golgi apparatus;Cytosol NA Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. NA Belongs to the glycosyltransferase 7 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Other types of O-glycan biosynthesis;Glycosaminoglycan biosynthesis - keratan sulfate;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;Keratan sulfate biosynthesis;N-Glycan antennae elongation PE1 1 +NX_O60513 Beta-1,4-galactosyltransferase 4 344 40041 9.18 1 Golgi stack membrane;Golgi apparatus NA Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. NA Belongs to the glycosyltransferase 7 family. Protein modification; protein glycosylation.;Glycosaminoglycan biosynthesis - keratan sulfate;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;Keratan sulfate biosynthesis;N-Glycan antennae elongation PE1 3 +NX_O60516 Eukaryotic translation initiation factor 4E-binding protein 3 100 10873 4.37 0 NA NA Repressor of translation initiation that regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation. Phosphorylated. Belongs to the eIF4E-binding protein family. NA PE1 5 +NX_O60518 Ran-binding protein 6 1105 124714 4.88 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA May function in nuclear protein import as nuclear transport receptor. NA Belongs to the importin beta family. NA PE1 9 +NX_O60519 cAMP-responsive element-binding protein-like 2 120 13784 9.93 0 Nucleoplasm;Cytosol;Mitochondrion;Nucleus NA Probable regulator of CREB1 transcriptional activity which is involved in adipose cells differentiation. May also play a regulatory role in the cell cycle. Identification in a chromosomal region frequently deleted in various cancers suggests that it might act as a tumor suppressor. Phosphorylated by AMPK. Belongs to the bZIP family. ATF subfamily. NA PE1 12 +NX_O60522 Tudor domain-containing protein 6 2096 236517 5.14 0 Cytoplasm NA Involved in spermiogenesis, chromatoid body formation and for proper precursor and mature miRNA expression. Undergoes proteolytic cleavage near the C-terminal by an unknown protease during the transition from meiosis I to meiosis II in primary spermatocytes. NA PIWI-interacting RNA (piRNA) biogenesis PE1 6 +NX_O60524 Nuclear export mediator factor NEMF 1076 122954 5.97 0 Nucleoplasm;Cytosol;Nucleus NA Component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates ubiquitination and extraction of incompletely synthesized nascent chains for proteasomal degradation. NEMF is responsible for selective recognition of stalled 60S subunits by recognizing an exposed, nascent chain-conjugated tRNA moiety. NEMF is important for the stable association of LTN1 to the complex (PubMed:25578875). May indirectly play a role in nuclear export (PubMed:16103875). NA Belongs to the NEMF family. NA PE1 14 +NX_O60542 Persephin 156 16600 9.54 0 Secreted NA Exhibits neurotrophic activity on mesencephalic dopaminergic and motor neurons. NA Belongs to the TGF-beta family. GDNF subfamily. RAF/MAP kinase cascade;NCAM1 interactions;RET signaling PE2 19 +NX_O60543 Cell death activator CIDE-A 219 24687 9.34 0 Nucleus;Lipid droplet NA Acts as a CEBPB coactivator in mammary epithelial cells to control the expression of a subset of CEBPB downstream target genes, including ID2, IGF1, PRLR, SOCS1, SOCS3, XDH, but not casein. By interacting with CEBPB, strengthens the association of CEBPB with the XDH promoter, increases histone acetylation and dissociates HDAC1 from the promoter (By similarity). Binds to lipid droplets and regulates their enlargement, thereby restricting lipolysis and favoring storage. At focal contact sites between lipid droplets, promotes directional net neutral lipid transfer from the smaller to larger lipid droplets. The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair and occurs at a lower rate than that promoted by CIDEC. When overexpressed, induces apoptosis. The physiological significance of its role in apoptosis is unclear. NA NA Lipid particle organization PE1 18 +NX_O60547 GDP-mannose 4,6 dehydratase 372 41950 6.87 0 NA NA Catalyzes the conversion of GDP-D-mannose to GDP-4-dehydro-6-deoxy-D-mannose. NA Belongs to the NAD(P)-dependent epimerase/dehydratase family. GDP-mannose 4,6-dehydratase subfamily. Nucleotide-sugar biosynthesis; GDP-L-fucose biosynthesis via de novo pathway; GDP-L-fucose from GDP-alpha-D-mannose: step 1/2.;Fructose and mannose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;GDP-fucose biosynthesis PE1 6 +NX_O60548 Forkhead box protein D2 495 48748 6.76 0 Nucleus NA Probable transcription factor involved in embryogenesis and somatogenesis. NA NA NA PE1 1 +NX_O60551 Glycylpeptide N-tetradecanoyltransferase 2 498 56980 7.23 0 Cytoplasm;Golgi apparatus;Cell membrane;Membrane;Cytosol NA Adds a myristoyl group to the N-terminal glycine residue of certain cellular and viral proteins. NA Belongs to the NMT family. Membrane binding and targetting of GAG proteins;Inactivation, recovery and regulation of the phototransduction cascade PE1 10 +NX_O60563 Cyclin-T1 726 80685 8.9 0 Nucleoplasm;Nucleus NA (Microbial infection) In case of HIV or SIV infections, binds to the transactivation domain of the viral nuclear transcriptional activator, Tat, thereby increasing Tat's affinity for the transactivating response RNA element (TAR RNA). Serves as an essential cofactor for Tat, by promoting RNA Pol II activation, allowing transcription of viral genes.;Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin-T1) complex, also called positive transcription elongation factor B (P-TEFb), which is proposed to facilitate the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNA Pol II). NA Belongs to the cyclin family. Cyclin C subfamily. SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Formation of RNA Pol II elongation complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;Interactions of Tat with host cellular proteins;RNA polymerase II transcribes snRNA genes;TP53 Regulates Transcription of DNA Repair Genes;Estrogen-dependent gene expression PE1 12 +NX_O60565 Gremlin-1 184 20697 9.53 0 Secreted Polyposis syndrome, mixed hereditary 1 Cytokine that may play an important role during carcinogenesis and metanephric kidney organogenesis, as a BMP antagonist required for early limb outgrowth and patterning in maintaining the FGF4-SHH feedback loop. Down-regulates the BMP4 signaling in a dose-dependent manner (By similarity). Antagonist of BMP2; inhibits BMP2-mediated differentiation of osteoblasts (in vitro) (PubMed:27036124). Acts as inhibitor of monocyte chemotaxis. Can inhibit the growth or viability of normal cells but not transformed cells when is overexpressed (By similarity). NA Belongs to the DAN family. NA PE1 15 +NX_O60566 Mitotic checkpoint serine/threonine-protein kinase BUB1 beta 1050 119545 5.2 0 Cytoplasm;Nucleus;Centrosome;Cytosol;Kinetochore Mosaic variegated aneuploidy syndrome 1;Premature chromatid separation trait Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its checkpoint functions is to inhibit the activity of the anaphase-promoting complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore activities that depend on the kinetochore motor CENPE. Required for kinetochore localization of CENPE. Negatively regulates PLK1 activity in interphase cells and suppresses centrosome amplification. Also implicated in triggering apoptosis in polyploid cells that exit aberrantly from mitotic arrest. May play a role for tumor suppression. Ubiquitinated. Degraded by the proteasome.;Acetylation at Lys-250 regulates its degradation and timing in anaphase entry.;Proteolytically cleaved by caspase-3 in a cell cycle specific manner. The cleavage might be involved in the durability of the cell cycle delay. Caspase-3 cleavage is associated with abrogation of the mitotic checkpoint. The major site of cleavage is at Asp-610.;Autophosphorylated in vitro. Intramolecular autophosphorylation is stimulated by CENPE. Phosphorylated during mitosis and hyperphosphorylated in mitotically arrested cells. Phosphorylation at Ser-670 and Ser-1043 occurs at kinetochores upon mitotic entry with dephosphorylation at the onset of anaphase.;Sumoylated with SUMO2 and SUMO3. The sumoylation mediates the association with CENPE at the kinetochore. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. BUB1 subfamily. Cell cycle;HTLV-I infection;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of mitotic proteins;APC-Cdc20 mediated degradation of Nek2A;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 15 +NX_O60568 Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 738 84785 5.69 0 Endoplasmic reticulum membrane;Secreted;Rough endoplasmic reticulum;Extracellular space;Endoplasmic reticulum lumen Lysyl hydroxylase 3 deficiency Multifunctional enzyme that catalyzes a series of essential post-translational modifications on Lys residues in procollagen (PubMed:11956192, PubMed:12475640, PubMed:18298658, PubMed:30089812, PubMed:18834968). Plays a redundant role in catalyzing the formation of hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens (PubMed:9582318, PubMed:9724729, PubMed:11956192, PubMed:12475640, PubMed:18298658, PubMed:30089812, PubMed:18834968). Plays a redundant role in catalyzing the transfer of galactose onto hydroxylysine groups, giving rise to galactosyl 5-hydroxylysine (PubMed:12475640, PubMed:18298658, PubMed:30089812, PubMed:18834968). Has an essential role by catalyzing the subsequent transfer of glucose moieties, giving rise to 1,2-glucosylgalactosyl-5-hydroxylysine residues (PubMed:10934207, PubMed:11896059, PubMed:11956192, PubMed:12475640, PubMed:18298658, PubMed:30089812, PubMed:18834968). Catalyzes hydroxylation and glycosylation of Lys residues in the MBL1 collagen-like domain, giving rise to hydroxylysine and 1,2-glucosylgalactosyl-5-hydroxylysine residues (PubMed:25419660). Essential for normal biosynthesis and secretion of type IV collagens (PubMed:18834968) (Probable). Essential for normal formation of basement membranes (By similarity). NA NA Lysine degradation;Other types of O-glycan biosynthesis;Collagen biosynthesis and modifying enzymes PE1 7 +NX_O60573 Eukaryotic translation initiation factor 4E type 2 245 28362 8.97 0 Cytosol;Mitochondrion NA Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation (PubMed:9582349, PubMed:17368478, PubMed:25624349). Acts as a repressor of translation initiation (PubMed:22751931). In contrast to EIF4E, it is unable to bind eIF4G (EIF4G1, EIF4G2 or EIF4G3), suggesting that it acts by competing with EIF4E and block assembly of eIF4F at the cap (By similarity). ISGylation enhances its cap structure-binding activity and translation-inhibition activity.;Ubiquitinated by ARIH1 (PubMed:14623119, PubMed:25624349). The consequences of ubiquitination are however unclear: according to a report, EIF4E2 ubiquitination leads to promote EIF4E2 cap-binding and protein translation arrest (PubMed:25624349). According to another report ubiquitination leads to its subsequent degradation (PubMed:14623119). Belongs to the eukaryotic initiation factor 4E family. RNA transport;mTOR signaling pathway;Insulin signaling pathway;ISG15 antiviral mechanism PE1 2 +NX_O60575 Serine protease inhibitor Kazal-type 4 86 9454 7.57 0 Golgi apparatus;Nucleoplasm;Secreted;Cytoplasmic vesicle NA NA NA NA NA PE1 9 +NX_O60583 Cyclin-T2 730 81029 9.04 0 Cell membrane;Nucleoplasm;Cytosol;Perinuclear region;Nucleus NA (Microbial infection) Promotes transcriptional activation of early and late herpes simplex virus 1/HHV-1 promoters.;Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin T) complex, also called positive transcription elongation factor B (P-TEFB), which is proposed to facilitate the transition from abortive to production elongation by phosphorylating the CTD (carboxy-terminal domain) of the large subunit of RNA polymerase II (RNAP II) (PubMed:9499409, PubMed:15563843). The activity of this complex is regulated by binding with 7SK snRNA (PubMed:11713533). Plays a role during muscle differentiation; P-TEFB complex interacts with MYOD1; this tripartite complex promotes the transcriptional activity of MYOD1 through its CDK9-mediated phosphorylation and binds the chromatin of promoters and enhancers of muscle-specific genes; this event correlates with hyperphosphorylation of the CTD domain of RNA pol II (By similarity). In addition, enhances MYOD1-dependent transcription through interaction with PKN1 (PubMed:16331689). Involved in early embryo development (By similarity). NA Belongs to the cyclin family. Cyclin C subfamily. SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Formation of RNA Pol II elongation complex;Formation of HIV elongation complex in the absence of HIV Tat;RNA Polymerase II Pre-transcription Events;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;RNA polymerase II transcribes snRNA genes;TP53 Regulates Transcription of DNA Repair Genes PE1 2 +NX_O60602 Toll-like receptor 5 858 97834 6.21 1 Golgi apparatus;Nucleoplasm;Cytosol;Cell membrane Systemic lupus erythematosus 1 Pattern recognition receptor (PRR) located on the cell surface that participates in the activation of innate immunity and inflammatory response (PubMed:11323673, PubMed:18490781). Recognizes small molecular motifs named pathogen-associated molecular pattern (PAMPs) expressed by pathogens and microbe-associated molecular patterns (MAMPs) usually expressed by resident microbiota (PubMed:29934223). Upon ligand binding such as bacterial flagellins, recruits intracellular adapter proteins MYD88 and TRIF leading to NF-kappa-B activation, cytokine secretion and induction of the inflammatory response (PubMed:20855887, PubMed:11489966). Plays thereby an important role in the relationship between the intestinal epithelium and enteric microbes and contributes to the gut microbiota composition throughout life (By similarity). Phosphorylated at Ser-805 by PKD/PRKD1; phosphorylation induces the production of inflammatory cytokines.;Phosphorylated at Tyr-798 upon flagellin binding; required for signaling. Belongs to the Toll-like receptor family. Toll-like receptor signaling pathway;Pathogenic Escherichia coli infection;Salmonella infection;Legionellosis;MyD88 deficiency (TLR5);IRAK4 deficiency (TLR5);MyD88 cascade initiated on plasma membrane;Toll Like Receptor 5 (TLR5) Cascade PE1 1 +NX_O60603 Toll-like receptor 2 784 89838 6.17 1 Mitochondrion;Phagosome membrane;Membrane;Nucleoplasm;Membrane raft NA Cooperates with LY96 to mediate the innate immune response to bacterial lipoproteins and other microbial cell wall components. Cooperates with TLR1 or TLR6 to mediate the innate immune response to bacterial lipoproteins or lipopeptides (PubMed:21078852, PubMed:17889651). Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. May also activate immune cells and promote apoptosis in response to the lipid moiety of lipoproteins (PubMed:10426995, PubMed:10426996). Recognizes mycoplasmal macrophage-activating lipopeptide-2kD (MALP-2), soluble tuberculosis factor (STF), phenol-soluble modulin (PSM) and B.burgdorferi outer surface protein A lipoprotein (OspA-L) cooperatively with TLR6 (PubMed:11441107). Stimulation of monocytes in vitro with M.tuberculosis PstS1 induces p38 MAPK and ERK1/2 activation primarily via this receptor, but also partially via TLR4 (PubMed:16622205). MAPK activation in response to bacterial peptidoglycan also occurs via this receptor (PubMed:16622205). Acts as a receptor for M.tuberculosis lipoproteins LprA, LprG, LpqH and PstS1, some lipoproteins are dependent on other coreceptors (TLR1, CD14 and/or CD36); the lipoproteins act as agonists to modulate antigen presenting cell functions in response to the pathogen (PubMed:19362712). M.tuberculosis HSP70 (dnaK) but not HSP65 (groEL-2) acts via this protein to stimulate NF-kappa-B expression (PubMed:15809303). Recognizes M.tuberculosis major T-antigen EsxA (ESAT-6) which inhibits downstream MYD88-dependent signaling (shown in mouse) (By similarity). Forms activation clusters composed of several receptors depending on the ligand, these clusters trigger signaling from the cell surface and subsequently are targeted to the Golgi in a lipid-raft dependent pathway. Forms the cluster TLR2:TLR6:CD14:CD36 in response to diacylated lipopeptides and TLR2:TLR1:CD14 in response to triacylated lipopeptides (PubMed:16880211). Required for normal uptake of M.tuberculosis, a process that is inhibited by M.tuberculosis LppM (By similarity). Ubiquitinated at Lys-754 by PPP1R11, leading to its degradation (PubMed:27805901). Deubiquitinated by USP2 (By similarity).;Glycosylation of Asn-442 is critical for secretion of the N-terminal ectodomain of TLR2. Belongs to the Toll-like receptor family. Phagosome;Toll-like receptor signaling pathway;Legionellosis;Leishmaniasis;Chagas disease (American trypanosomiasis);Malaria;Toxoplasmosis;Amoebiasis;Tuberculosis;Measles;Herpes simplex infection;Rheumatoid arthritis;ER-Phagosome pathway;MyD88:MAL(TIRAP) cascade initiated on plasma membrane;MyD88 deficiency (TLR2/4);IRAK4 deficiency (TLR2/4);Toll Like Receptor TLR1:TLR2 Cascade;Beta defensins;Toll Like Receptor TLR6:TLR2 Cascade;Regulation of TLR by endogenous ligand;Neutrophil degranulation PE1 4 +NX_O60609 GDNF family receptor alpha-3 400 44511 8.06 0 Cytosol;Cell membrane NA Receptor for the glial cell line-derived neurotrophic factor, ARTN (artemin). Mediates the artemin-induced autophosphorylation and activation of the RET receptor tyrosine kinase. N-glycosylated. Belongs to the GDNFR family. RAF/MAP kinase cascade;RET signaling PE1 5 +NX_O60610 Protein diaphanous homolog 1 1272 141347 5.31 0 Cytoplasm;Cell membrane;Centrosome;Ruffle membrane;Spindle;Nucleus;Cytoskeleton Seizures, cortical blindness, and microcephaly syndrome;Deafness, autosomal dominant, 1 Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization (By similarity). Required for cytokinesis, and transcriptional activation of the serum response factor (By similarity). DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity). Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity. Acts in a Rho-dependent manner to recruit PFY1 to the membrane (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells (PubMed:20937854, PubMed:21834987, PubMed:26912466). The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854, PubMed:21834987). It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity (PubMed:20937854, PubMed:21834987). In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization (PubMed:20937854, PubMed:21834987). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape (PubMed:20937854, PubMed:21834987). Plays a role in brain development (PubMed:24781755). Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity (By similarity). Phosphorylation at Thr-768 is stimulated by cAMP and regulates stability, complex formation and mitochondrial movement. Belongs to the formin homology family. Diaphanous subfamily. Focal adhesion;Regulation of actin cytoskeleton;Shigellosis;RHO GTPases Activate Formins;ERBB2 Regulates Cell Motility;Neutrophil degranulation PE1 5 +NX_O60613 Selenoprotein F 165 18092 4.96 0 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum lumen;Nucleolus NA May be involved in redox reactions associated with the formation of disulfide bonds (By similarity). May contribute to the quality control of protein folding in the endoplasmic reticulum (PubMed:24415556). May regulate protein folding by enhancing the catalytic activity of UGGT1/UGCGL1 and UGGT2/UGCGL2 (PubMed:24415556). The N-terminus is blocked. Belongs to the selenoprotein M/F family. NA PE1 1 +NX_O60635 Tetraspanin-1 241 26301 5.12 4 Cytoplasmic vesicle;Nucleoplasm;Lysosome membrane NA NA NA Belongs to the tetraspanin (TM4SF) family. NA PE1 1 +NX_O60636 Tetraspanin-2 221 24148 7.98 4 Membrane;Nucleoplasm NA May play a role in signalling in oligodendrocytes in the early stages of their terminal differentiation into myelin-forming glia and may also function in stabilizing the mature sheath. NA Belongs to the tetraspanin (TM4SF) family. NA PE1 1 +NX_O60637 Tetraspanin-3 253 28018 5.52 4 Membrane;Golgi apparatus;Nucleoplasm NA Regulates the proliferation and migration of oligodendrocytes, a process essential for normal myelination and repair. NA Belongs to the tetraspanin (TM4SF) family. NA PE1 15 +NX_O60641 Clathrin coat assembly protein AP180 907 92502 4.69 0 Coated pit;Cytosol;Centrosome;Cell membrane NA Adaptins are components of the adapter complexes which link clathrin to receptors in coated vesicles. Clathrin-associated protein complexes are believed to interact with the cytoplasmic tails of membrane proteins, leading to their selection and concentration. Binding of AP180 to clathrin triskelia induces their assembly into 60-70 nm coats (By similarity). Thr-310 can be modified by the addition of N-acetylglucosamine which can be further phosphorylated. There is no evidence for direct Thr-310 phosphorylation (By similarity).;SNAP91 is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the PICALM/SNAP91 family. Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 6 +NX_O60645 Exocyst complex component 3 745 85567 5.93 0 Cytoplasm;Golgi apparatus;Mitochondrion;Growth cone;Nucleoplasm;Neuron projection;Perinuclear region;Midbody NA Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. NA Belongs to the SEC6 family. Tight junction;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Insulin processing;VxPx cargo-targeting to cilium PE1 5 +NX_O60656 UDP-glucuronosyltransferase 1-9 530 59941 8.08 1 Endoplasmic reticulum membrane;Microsome NA Lacks transferase activity but acts as a negative regulator of isoform 1.;UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. NA Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;PPARA activates gene expression;Glucuronidation PE1 2 +NX_O60658 High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A 829 93304 5.75 0 Golgi apparatus NA Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes (PubMed:18983167). May be involved in maintaining basal levels of the cyclic nucleotide and/or in the cAMP regulation of germ cell development (PubMed:18983167). Binding to RAF1 reduces RAF1 'Ser-259' inhibitory-phosphorylation and stimulates RAF1-dependent EGF-activated ERK-signaling (PubMed:23509299). Protects against cell death induced by hydrogen peroxide and staurosporine (PubMed:23509299). Phosphorylated at Ser-359 by PKA under elevated cAMP conditions, this enhances catalytic activity. Belongs to the cyclic nucleotide phosphodiesterase family. PDE8 subfamily. Purine metabolism; 3',5'-cyclic AMP degradation; AMP from 3',5'-cyclic AMP: step 1/1.;Purine metabolism;G alpha (s) signalling events PE1 15 +NX_O60662 Kelch-like protein 41 606 68037 5.14 0 Cytoplasm;Endoplasmic reticulum membrane;Cell membrane;Nucleoplasm;Pseudopodium;Sarcoplasmic reticulum membrane;Ruffle;Cytosol;M line;Cytoskeleton Nemaline myopathy 9 Involved in skeletal muscle development and differentiation. Regulates proliferation and differentiation of myoblasts and plays a role in myofibril assembly by promoting lateral fusion of adjacent thin fibrils into mature, wide myofibrils. Required for pseudopod elongation in transformed cells. Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for proteasome-independent degradation. Quinone-induced oxidative stress increases its ubiquitination. NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 2 +NX_O60663 LIM homeobox transcription factor 1-beta 402 44917 6.22 0 Nucleoplasm;Nucleus Nail-patella syndrome Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels. NA NA NA PE1 9 +NX_O60664 Perilipin-3 434 47075 5.3 0 Cytoplasm;Endosome membrane;Lipid droplet NA Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network. NA Belongs to the perilipin family. Triglyceride catabolism;Retrograde transport at the Trans-Golgi-Network;Chaperone Mediated Autophagy;Lipophagy;Microautophagy PE1 19 +NX_O60667 Fas apoptotic inhibitory molecule 3 390 43146 9.78 1 Focal adhesion;Secreted;Membrane;Nucleoplasm;Cytosol NA May play a role in the immune system processes. Protects cells from FAS-, TNF alpha- and FADD-induced apoptosis without increasing expression of the inhibitors of apoptosis BCL2 and BCLXL. Seems to activate an inhibitory pathway that prevents CASP8 activation following FAS stimulation, rather than blocking apoptotic signals downstream. May inhibit FAS-induced apoptosis by preventing CASP8 processing through CFLAR up-regulation. NA NA NA PE1 1 +NX_O60669 Monocarboxylate transporter 2 478 52200 9.37 12 Nucleoplasm;Cell membrane NA Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Functions as high-affinity pyruvate transporter. NA Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. Proton-coupled monocarboxylate transport PE1 12 +NX_O60671 Cell cycle checkpoint protein RAD1 282 31827 4.73 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Possesses 3'->5' double stranded DNA exonuclease activity (PubMed:9660799).;Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair (PubMed:10846170, PubMed:10884395). The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex (PubMed:12578958). Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER) (PubMed:15871698). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavage activity on substrates with double, nick, or gap flaps of distinct sequences and lengths; and DNA ligase I (LIG1) on long-patch base excision repair substrates (PubMed:15314187, PubMed:15556996, PubMed:15871698). The 9-1-1 complex is necessary for the recruitment of RHNO1 to sites of double-stranded breaks (DSB) occurring during the S phase (PubMed:21659603). NA Belongs to the rad1 family. Activation of ATR in response to replication stress;G2/M DNA damage checkpoint;HDR through Single Strand Annealing (SSA);Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Regulation of TP53 Activity through Phosphorylation PE1 5 +NX_O60673 DNA polymerase zeta catalytic subunit 3130 352776 8.72 0 Nucleoplasm;Nucleus NA Catalytic subunit of the DNA polymerase zeta complex, an error-prone polymerase specialized in translesion DNA synthesis (TLS). Lacks an intrinsic 3'-5' exonuclease activity and thus has no proofreading function. NA Belongs to the DNA polymerase type-B family. Metabolic pathways;Fanconi anemia pathway;Translesion synthesis by POLI;Translesion synthesis by REV1;Translesion synthesis by POLK PE1 6 +NX_O60674 Tyrosine-protein kinase JAK2 1132 130674 6.82 0 Cytoplasm;Cell membrane;Endomembrane system;Focal adhesion;Nucleoplasm;Nucleus Polycythemia vera;Budd-Chiari syndrome;Thrombocythemia 3;Myelofibrosis;Leukemia, acute myelogenous Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors such as growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), thrombopoietin (THPO); or type II receptors including IFN-alpha, IFN-beta, IFN-gamma and multiple interleukins (PubMed:7615558). Following ligand-binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins (PubMed:9618263). Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, cell stimulation with erythropoietin (EPO) during erythropoiesis leads to JAK2 autophosphorylation, activation, and its association with erythropoietin receptor (EPOR) that becomes phosphorylated in its cytoplasmic domain. Then, STAT5 (STAT5A or STAT5B) is recruited, phosphorylated and activated by JAK2. Once activated, dimerized STAT5 translocates into the nucleus and promotes the transcription of several essential genes involved in the modulation of erythropoiesis. Part of a signaling cascade that is activated by increased cellular retinol and that leads to the activation of STAT5 (STAT5A or STAT5B) (PubMed:21368206). In addition, JAK2 mediates angiotensin-2-induced ARHGEF1 phosphorylation (PubMed:20098430). Plays a role in cell cycle by phosphorylating CDKN1B (PubMed:21423214). Cooperates with TEC through reciprocal phosphorylation to mediate cytokine-driven activation of FOS transcription. In the nucleus, plays a key role in chromatin by specifically mediating phosphorylation of 'Tyr-41' of histone H3 (H3Y41ph), a specific tag that promotes exclusion of CBX5 (HP1 alpha) from chromatin (PubMed:19783980). Autophosphorylated, leading to regulate its activity. Leptin promotes phosphorylation on tyrosine residues, including phosphorylation on Tyr-813 (By similarity). Autophosphorylation on Tyr-119 in response to EPO down-regulates its kinase activity (By similarity). Autophosphorylation on Tyr-868, Tyr-966 and Tyr-972 in response to growth hormone (GH) are required for maximal kinase activity (By similarity). Also phosphorylated by TEC (By similarity). Phosphorylated on tyrosine residues in response to interferon gamma signaling (PubMed:7615558, PubMed:7673114). Phosphorylated on tyrosine residues in response to a signaling cascade that is activated by increased cellular retinol (PubMed:21368206).;JAK2 is phosphorylated by TEC (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily. Chemokine signaling pathway;Jak-STAT signaling pathway;Cholinergic synapse;Adipocytokine signaling pathway;Leishmaniasis;Toxoplasmosis;Tuberculosis;Measles;Influenza A;Herpes simplex infection;RAF/MAP kinase cascade;RMTs methylate histone arginines;Factors involved in megakaryocyte development and platelet production;Interferon gamma signaling;Interleukin receptor SHC signaling;RAF activation;Prolactin receptor signaling;Growth hormone receptor signaling;Signaling by SCF-KIT;Interleukin-3, Interleukin-5 and GM-CSF signaling;Cyclin D associated events in G1;MAPK3 (ERK1) activation;Regulation of IFNG signaling;Interleukin-6 signaling;Signaling by Leptin;MAPK1 (ERK2) activation;Interleukin-20 family signaling;IL-6-type cytokine receptor ligand interactions;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;Interleukin-4 and Interleukin-13 signaling;Interleukin-35 Signalling;Interleukin-12 signaling;Interleukin-23 signaling;Interleukin-27 signaling;Erythropoietin activates RAS;Erythropoietin activates Phosphoinositide-3-kinase (PI3K);Signaling by Erythropoietin;Erythropoietin activates Phospholipase C gamma (PLCG);Erythropoietin activates STAT5 PE1 9 +NX_O60675 Transcription factor MafK 156 17523 10.1 0 Nucleoplasm;Nucleus NA Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves (PubMed:9150357). However, they act as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2, NFE2L1/NRF1, NFE2L2/NRF2 and NFE2L3/NRF3, and recruiting them to specific DNA-binding sites (PubMed:9150357, PubMed:8932385). Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NF-E2 transcription factor (PubMed:9150357). NA Belongs to the bZIP family. Maf subfamily. Factors involved in megakaryocyte development and platelet production PE1 7 +NX_O60676 Cystatin-8 142 16275 9.05 0 Secreted NA Performs a specialized role during sperm development and maturation. NA Belongs to the cystatin family. NA PE1 20 +NX_O60678 Protein arginine N-methyltransferase 3 531 59903 5.18 0 Cytoplasm NA Methylates (mono and asymmetric dimethylation) the guanidino nitrogens of arginyl residues in some proteins. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family. RMTs methylate histone arginines;Protein methylation PE1 11 +NX_O60682 Musculin 206 22068 9.23 0 Nucleoplasm;Nucleus NA Transcription repressor capable of inhibiting the transactivation capability of TCF3/E47. May play a role in regulating antigen-dependent B-cell differentiation. NA NA NA PE1 8 +NX_O60683 Peroxisome biogenesis factor 10 326 37069 10.03 0 Peroxisome membrane;Nucleoplasm Peroxisome biogenesis disorder complementation group 7;Peroxisome biogenesis disorder 6B;Peroxisome biogenesis disorder 6A Somewhat implicated in the biogenesis of peroxisomes. NA Belongs to the pex2/pex10/pex12 family. Peroxisome;E3 ubiquitin ligases ubiquitinate target proteins;Peroxisomal protein import PE1 1 +NX_O60684 Importin subunit alpha-7 536 60030 4.89 0 Nucleoplasm;Cytosol NA Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. NA Belongs to the importin alpha family. NA PE1 1 +NX_O60687 Sushi repeat-containing protein SRPX2 465 52972 7.05 0 Cell surface;Cytoplasm;Secreted;Synapse Rolandic epilepsy with speech dyspraxia and mental retardation X-linked Acts as a ligand for the urokinase plasminogen activator surface receptor. Plays a role in angiogenesis by inducing endothelial cell migration and the formation of vascular network (cords). Involved in cellular migration and adhesion. Increases the phosphorylation levels of FAK. Interacts with and increases the mitogenic activity of HGF. Promotes synapse formation. May have a role in the perisylvian region, critical for language and cognitive development. Contains chondroitin sulfate chains. NA NA PE1 X +NX_O60688 Protein yippee-like 1 119 13575 8.21 0 Nucleus NA May play a role in epithelioid conversion of fibroblasts. NA Belongs to the yippee family. NA PE2 22 +NX_O60701 UDP-glucose 6-dehydrogenase 494 55024 6.73 0 Nucleoplasm NA Catalyzes the formation of UDP-alpha-D-glucuronate, a constituent of complex glycosaminoglycans (PubMed:21961565, PubMed:21502315, PubMed:23106432, PubMed:22123821, PubMed:25478983, PubMed:27966912, PubMed:30420606, PubMed:30457329). Required for the biosynthesis of chondroitin sulfate and heparan sulfate. Required for embryonic development via its role in the biosynthesis of glycosaminoglycans (By similarity). NA Belongs to the UDP-glucose/GDP-mannose dehydrogenase family. Nucleotide-sugar biosynthesis; UDP-alpha-D-glucuronate biosynthesis; UDP-alpha-D-glucuronate from UDP-alpha-D-glucose: step 1/1.;Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Starch and sucrose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Formation of the active cofactor, UDP-glucuronate PE1 4 +NX_O60704 Protein-tyrosine sulfotransferase 2 377 41912 9.22 1 Endoplasmic reticulum;Golgi apparatus membrane NA Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3'-phosphoadenylyl sulfate (PAPS) as cosubstrate. N-glycosylated. Belongs to the protein sulfotransferase family. Cytosolic sulfonation of small molecules PE1 22 +NX_O60706 ATP-binding cassette sub-family C member 9 1549 174223 7.05 15 Membrane;Nucleoplasm;Cytosol Hypertrichotic osteochondrodysplasia;Cardiomyopathy, dilated 1O;Atrial fibrillation, familial, 12 Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation. NA Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. ABC transporters;ABC-family proteins mediated transport;ATP sensitive Potassium channels;Defective ABCC9 causes dilated cardiomyopathy 10, familial atrial fibrillation 12 and hypertrichotic osteochondrodysplasia;Ion homeostasis PE1 12 +NX_O60711 Leupaxin 386 43332 5.62 0 Cytoplasm;Nucleus speckle;Cell membrane;Podosome;Focal adhesion;Cytosol;Perinuclear region;Nucleus NA Transcriptional coactivator for androgen receptor (AR) and serum response factor (SRF). Contributes to the regulation of cell adhesion, spreading and cell migration and acts as a negative regulator in integrin-mediated cell adhesion events. Suppresses the integrin-induced tyrosine phosphorylation of paxillin (PXN). May play a critical role as an adapter protein in the formation of the adhesion zone in osteoclasts. Negatively regulates B-cell antigen receptor (BCR) signaling. Phosphorylated on tyrosine residues. Phosphorylation on Tyr-72 is important for its inhibitory function. Bombesin stimulates phosphorylation on Tyr-22, Tyr-62 and Tyr-72. Belongs to the paxillin family. NA PE1 11 +NX_O60716 Catenin delta-1 968 108170 5.86 0 Cytoplasm;Nucleus;Cell membrane Blepharocheilodontic syndrome 2 Binds to and inhibits the transcriptional repressor ZBTB33, which may lead to activation of target genes of the Wnt signaling pathway (By similarity). Associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability. Implicated both in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors. Promotes GLIS2 C-terminal cleavage. Phosphorylated by FER and other protein-tyrosine kinases. Phosphorylated at Ser-288 by PAK5. Dephosphorylated by PTPRJ. Belongs to the beta-catenin family. Adherens junction;Leukocyte transendothelial migration;VEGFR2 mediated vascular permeability;Adherens junctions interactions;InlA-mediated entry of Listeria monocytogenes into host cells PE1 11 +NX_O60721 Sodium/potassium/calcium exchanger 1 1099 121374 4.9 11 Membrane;Cytoskeleton Night blindness, congenital stationary, 1D Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). The uncleaved signal sequence is required for efficient membrane targeting and proper membrane integration. Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily. Phototransduction;Activation of the phototransduction cascade;Sodium/Calcium exchangers;Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) PE1 15 +NX_O60725 Protein-S-isoprenylcysteine O-methyltransferase 284 31938 8.13 8 Endoplasmic reticulum membrane NA Catalyzes the post-translational methylation of isoprenylated C-terminal cysteine residues. NA Belongs to the class VI-like SAM-binding methyltransferase superfamily. Isoprenylcysteine carboxyl methyltransferase family. Gamma carboxylation, hypusine formation and arylsulfatase activation PE1 1 +NX_O60729 Dual specificity protein phosphatase CDC14B 498 56802 9.19 0 Nucleoplasm;Nucleolus NA Dual-specificity phosphatase involved in DNA damage response. Essential regulator of the G2 DNA damage checkpoint: following DNA damage, translocates to the nucleus and dephosphorylates FZR1/CDH1, a key activator of the anaphase promoting complex/cyclosome (APC/C). Dephosphorylates SIRT2 around early anaphase. Dephosphorylation of FZR1/CDH1 activates the APC/C, leading to the ubiquitination of PLK1, preventing entry into mitosis. Preferentially dephosphorylates proteins modified by proline-directed kinases. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class CDC14 subfamily. Cell cycle;MAPK6/MAPK4 signaling PE1 9 +NX_O60732 Melanoma-associated antigen C1 1142 123643 4.23 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 X +NX_O60733 85/88 kDa calcium-independent phospholipase A2 806 89903 6.86 0 Membrane;Cytoplasm;Cytosol;Centriolar satellite Neurodegeneration with brain iron accumulation 2B;Parkinson disease 14;Neurodegeneration with brain iron accumulation 2A Which lack the catalytic domain, are probably involved in the negative regulation of iPLA2 activity.;Catalyzes the release of fatty acids from phospholipids. It has been implicated in normal phospholipid remodeling, nitric oxide-induced or vasopressin-induced arachidonic acid release and in leukotriene and prostaglandin production. May participate in fas mediated apoptosis and in regulating transmembrane ion flux in glucose-stimulated B-cells. Has a role in cardiolipin (CL) deacylation. Required for both speed and directionality of monocyte MCP1/CCL2-induced chemotaxis through regulation of F-actin polymerization at the pseudopods. NA NA Glycerophospholipid metabolism;Ether lipid metabolism;Arachidonic acid metabolism;Linoleic acid metabolism;alpha-Linolenic acid metabolism;Metabolic pathways;MAPK signaling pathway;Vascular smooth muscle contraction;VEGF signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Glutamatergic synapse;Long-term depression;GnRH signaling pathway;Pancreatic secretion;Fat digestion and absorption;Toxoplasmosis;Acyl chain remodelling of PC;Acyl chain remodelling of PE;Role of phospholipids in phagocytosis;Acyl chain remodeling of CL;COPI-independent Golgi-to-ER retrograde traffic PE1 22 +NX_O60739 Eukaryotic translation initiation factor 1b 113 12824 6.82 0 NA NA Probably involved in translation. NA Belongs to the SUI1 family. RNA transport PE1 3 +NX_O60741 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 890 98796 8.63 6 Cell membrane Epileptic encephalopathy, early infantile, 24 Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions (PubMed:28086084). Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). May mediate responses to sour stimuli. NA Belongs to the potassium channel HCN family. HCN channels PE1 5 +NX_O60749 Sorting nexin-2 519 58471 5.04 0 Early endosome membrane;Lamellipodium;Endosome;Lysosome NA Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:16179610). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex (PubMed:17101778). The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC) (Probable). Can sense membrane curvature and has in vitro vesicle-to-membrane remodeling activity (PubMed:23085988). Required for retrograde endosome-to-TGN transport of TGN38 (PubMed:20138391). Promotes KALRN- and RHOG-dependent but retromer-independent membrane remodeling such as lamellipodium formation; the function is dependent on GEF activity of KALRN (PubMed:20604901). NA Belongs to the sorting nexin family. Golgi Associated Vesicle Biogenesis PE1 5 +NX_O60755 Galanin receptor type 3 368 39573 10.23 7 Cell membrane NA Receptor for the hormone galanin (PubMed:25691535). Receptor for the hormone spexin-1 (PubMed:24517231). NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors PE1 22 +NX_O60756 Putative protein BCE-1 84 9784 10.67 0 NA NA NA NA NA NA PE5 9 +NX_O60759 Cytohesin-interacting protein 359 40010 6.55 0 Nucleoplasm;Cytosol;Early endosome;Cytoplasm NA By its binding to cytohesin-1 (CYTH1), it modifies activation of ARFs by CYTH1 and its precise function may be to sequester CYTH1 in the cytoplasm. NA NA NA PE1 2 +NX_O60760 Hematopoietic prostaglandin D synthase 199 23344 5.54 0 Nucleoplasm;Cytoplasm;Cytosol;Cytoplasmic vesicle NA Bifunctional enzyme which catalyzes both the conversion of PGH2 to PGD2, a prostaglandin involved in smooth muscle contraction/relaxation and a potent inhibitor of platelet aggregation, and the conjugation of glutathione with a wide range of aryl halides and organic isothiocyanates. Also exhibits low glutathione-peroxidase activity towards cumene hydroperoxide. NA Belongs to the GST superfamily. Sigma family. Arachidonic acid metabolism;Metabolic pathways;Synthesis of Prostaglandins (PG) and Thromboxanes (TX);Glutathione conjugation PE1 4 +NX_O60762 Dolichol-phosphate mannosyltransferase subunit 1 260 29634 9.57 0 Endoplasmic reticulum Congenital disorder of glycosylation 1E Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation of proteins; catalytic subunit of the dolichol-phosphate mannose (DPM) synthase complex. NA Belongs to the glycosyltransferase 2 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Synthesis of dolichyl-phosphate mannose;Defective DPM2 causes DPM2-CDG (CDG-1u);Defective DPM1 causes DPM1-CDG (CDG-1e);Defective DPM3 causes DPM3-CDG (CDG-1o) PE1 20 +NX_O60763 General vesicular transport factor p115 962 107895 4.85 0 Golgi apparatus;Cytosol;Nucleolus;Golgi apparatus membrane NA General vesicular transport factor required for intercisternal transport in the Golgi stack; it is required for transcytotic fusion and/or subsequent binding of the vesicles to the target membrane. May well act as a vesicular anchor by interacting with the target membrane and holding the vesicular and target membranes in proximity. Phosphorylated in a cell cycle-specific manner; phosphorylated in interphase but not in mitotic cells. Dephosphorylated protein associates with the Golgi membrane; phosphorylation promotes dissociation. Belongs to the VDP/USO1/EDE1 family. Golgi Cisternae Pericentriolar Stack Reorganization;COPII-mediated vesicle transport;COPI-mediated anterograde transport PE1 4 +NX_O60765 Zinc finger protein 354A 605 69237 9.65 0 Nucleoplasm;Nucleolus;Nucleus;Cytosol NA NA NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 5 +NX_O60774 Putative dimethylaniline monooxygenase [N-oxide-forming] 6 539 61291 5.99 1 Microsome membrane;Endoplasmic reticulum membrane NA It is probable that this protein is only produced in very small quantity or not at all as the gene coding for it seems to be unable to produce full-length transcripts. NA Belongs to the FMO family. NA PE5 1 +NX_O60779 Thiamine transporter 1 497 55400 6.35 12 Cytosol;Cell membrane Thiamine-responsive megaloblastic anemia syndrome High-affinity transporter for the intake of thiamine. NA Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. Vitamin digestion and absorption;Vitamin B1 (thiamin) metabolism PE1 1 +NX_O60783 28S ribosomal protein S14, mitochondrial 128 15139 11.42 0 Mitochondrion;Nucleus membrane Combined oxidative phosphorylation deficiency 38 NA NA Belongs to the universal ribosomal protein uS14 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 1 +NX_O60784 Target of Myb protein 1 492 53818 4.59 0 Cytoplasm;Cell membrane;Centriolar satellite;Membrane;Cytosol NA May be involved in intracellular trafficking. Probable association with membranes. NA Belongs to the TOM1 family. Neutrophil degranulation PE1 22 +NX_O60806 T-box transcription factor TBX19 448 48238 6.66 0 Nucleus speckle;Nucleus ACTH deficiency, isolated Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters. NA NA NA PE1 1 +NX_O60809 PRAME family member 10 474 55211 8.71 0 NA NA NA NA Belongs to the PRAME family. NA PE2 1 +NX_O60810 PRAME family member 4 478 55439 8.69 0 NA NA NA NA Belongs to the PRAME family. NA PE2 1 +NX_O60811 PRAME family member 2 474 54872 8.12 0 NA NA NA NA Belongs to the PRAME family. NA PE2 1 +NX_O60812 Heterogeneous nuclear ribonucleoprotein C-like 1 293 32142 4.93 0 Nucleus NA May play a role in nucleosome assembly by neutralizing basic proteins such as A and B core hnRNPs. NA Belongs to the RRM HNRPC family. RALY subfamily. NA PE1 1 +NX_O60813 PRAME family member 11 478 55344 8.83 0 NA NA NA NA Belongs to the PRAME family. NA PE2 1 +NX_O60814 Histone H2B type 1-K 126 13890 10.31 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.;Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid. GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes (By similarity).;Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination. Belongs to the histone H2B family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;G2/M DNA damage checkpoint;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Ub-specific processing proteases;E3 ubiquitin ligases ubiquitinate target proteins;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 6 +NX_O60825 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 505 58477 8.61 0 Nucleoplasm NA Synthesis and degradation of fructose 2,6-bisphosphate. Phosphorylation by AMPK stimulates activity. In the C-terminal section; belongs to the phosphoglycerate mutase family. Fructose and mannose metabolism;Regulation of glycolysis by fructose 2,6-bisphosphate metabolism PE1 1 +NX_O60826 Coiled-coil domain-containing protein 22 627 70756 6.3 0 Nucleoplasm;Cytosol;Endosome Ritscher-Schinzel syndrome 2 (Microbial infection) The CCC complex, in collaboration with the heterotrimeric retriever complex, mediates the exit of human papillomavirus to the cell surface.;Involved in regulation of NF-kappa-B signaling. Promotes ubiquitination of I-kappa-B-kinase subunit IKBKB and its subsequent proteasomal degradation leading to NF-kappa-B activation; the function may involve association with COMMD8 and a CUL1-dependent E3 ubiquitin ligase complex. May down-regulate NF-kappa-B activity via association with COMMD1 and involving a CUL2-dependent E3 ubiquitin ligase complex. Regulates the cellular localization of COMM domain-containing proteins, such as COMMD1 and COMMD10 (PubMed:23563313). Component of the CCC complex, which is involved in the regulation of endosomal recycling of surface proteins, including integrins, signaling receptor and channels. The CCC complex associates with SNX17, retriever and WASH complexes to prevent lysosomal degradation and promote cell surface recycling of numerous cargos such as integrins ITGA5:ITGB1 (PubMed:28892079, PubMed:25355947). Plays a role in copper ion homeostasis. Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes (PubMed:25355947). NA Belongs to the CCDC22 family. Neddylation PE1 X +NX_O60828 Polyglutamine-binding protein 1 265 30472 5.92 0 Cytoplasmic granule;Nucleus speckle;Nucleus Renpenning syndrome 1 Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development (PubMed:10198427, PubMed:10332029, PubMed:12062018, PubMed:20410308, PubMed:23512658). Interacts with splicing-related factors via the intrinsically disordered region and regulates alternative splicing of target pre-mRNA species (PubMed:10332029, PubMed:12062018, PubMed:23512658, PubMed:20410308). May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery (PubMed:10198427). May be involved in ATXN1 mutant-induced cell death (PubMed:12062018). The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit (PubMed:12062018). Involved in the assembly of cytoplasmic stress granule, possibly by participating to the transport of neuronal RNA granules (PubMed:21933836). Also acts as an innate immune sensor of infection by retroviruses, such as HIV, by detecting the presence of reverse-transcribed DNA in the cytosol (PubMed:26046437). Directly binds retroviral reverse-transcribed DNA in the cytosol and interacts with CGAS, leading to activate the cGAS-STING signaling pathway, triggering type-I interferon production (PubMed:26046437). NA NA mRNA Splicing - Major Pathway PE1 X +NX_O60829 P antigen family member 4 102 11153 4.71 0 Golgi apparatus;Cytoplasm;Mitochondrion;Cytoplasmic vesicle;Nucleus NA Intrinsically disordered protein that potentiates the transcriptional activator activity of JUN (PubMed:24263171, PubMed:28289210). Protects cells from stress-induced apoptosis by inhibiting reactive oxygen species (ROS) production and via regulation of the MAPK signaling pathway (PubMed:21357425, PubMed:25374899, PubMed:30658679). HIPK1-mediated phosphorylation at Thr-51 leads to the compaction of its intrinsically disordered conformation and is critical for its ability to potentiate the transcriptional activator activity of JUN inspite of a reduced interaction with JUN (PubMed:24559171, PubMed:26242913). CLK2-mediated phosphorylation at multiple Ser and Thr residues attenuates its ability to potentiate JUN transcriptional activator activity (PubMed:28289210). Belongs to the GAGE family. NA PE1 X +NX_O60830 Mitochondrial import inner membrane translocase subunit Tim17-B 172 18273 9.21 3 Mitochondrion inner membrane;Mitochondrion;Cytoskeleton NA Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Forms one disulfide bond. Belongs to the Tim17/Tim22/Tim23 family. Mitochondrial protein import PE1 X +NX_O60831 PRA1 family protein 2 178 19258 9.41 4 Endoplasmic reticulum;Cytoplasmic vesicle;Endosome membrane NA May be involved in ER/Golgi transport and vesicular traffic. Plays a proapoptotic role in cerulenin-induced neuroblastoma apoptosis. NA Belongs to the PRA1 family. NA PE1 X +NX_O60832 H/ACA ribonucleoprotein complex subunit DKC1 514 57674 9.46 0 Cajal body;Cytoplasm;Nucleolus;Nucleoplasm;Nucleus Hoyeraal-Hreidarsson syndrome;Dyskeratosis congenita, X-linked Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:25219674). This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1 (PubMed:25219674). Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance (PubMed:19179534, PubMed:25219674). Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme (PubMed:19179534).;Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression. NA Belongs to the pseudouridine synthase TruB family. Ribosome biogenesis in eukaryotes;Telomere Extension By Telomerase;rRNA modification in the nucleus and cytosol PE1 X +NX_O60840 Voltage-dependent L-type calcium channel subunit alpha-1F 1977 220678 5.76 24 Membrane Night blindness, congenital stationary, 2A;Cone-rod dystrophy, X-linked 3;Aaland island eye disease Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations.;Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines. Activates at more negative voltages and does not undergo calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarization.;Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exhibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations. NA Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1F subfamily. MAPK signaling pathway;Calcium signaling pathway;Cardiac muscle contraction;Vascular smooth muscle contraction;Cholinergic synapse;GABAergic synapse;GnRH signaling pathway;Alzheimer's disease;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 X +NX_O60841 Eukaryotic translation initiation factor 5B 1220 138827 5.39 0 Cytoplasm;Cytosol;Cell membrane NA Plays a role in translation initiation. Translational GTPase that catalyzes the joining of the 40S and 60S subunits to form the 80S initiation complex with the initiator methionine-tRNA in the P-site base paired to the start codon. GTP binding and hydrolysis induces conformational changes in the enzyme that renders it active for productive interactions with the ribosome. The release of the enzyme after formation of the initiation complex is a prerequisite to form elongation-competent ribosomes. NA Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. IF-2 subfamily. RNA transport;GTP hydrolysis and joining of the 60S ribosomal subunit PE1 2 +NX_O60844 Zymogen granule membrane protein 16 167 18147 9.43 0 Golgi apparatus lumen;Extracellular matrix;Cytoplasmic vesicle lumen NA May play a role in protein trafficking. May act as a linker molecule between the submembranous matrix on the luminal side of zymogen granule membrane (ZGM) and aggregated secretory proteins during granule formation in the TGN. NA Belongs to the jacalin lectin family. NA PE1 16 +NX_O60858 E3 ubiquitin-protein ligase TRIM13 407 46988 5.75 1 Endoplasmic reticulum membrane NA Endoplasmic reticulum (ER) membrane anchored E3 ligase involved in the retrotranslocation and turnover of membrane and secretory proteins from the ER through a set of processes named ER-associated degradation (ERAD). This process acts on misfolded proteins as well as in the regulated degradation of correctly folded proteins. Enhances ionizing radiation-induced p53/TP53 stability and apoptosis via ubiquitinating MDM2 and AKT1 and decreasing AKT1 kinase activity through MDM2 and AKT1 proteasomal degradation. Regulates ER stress-induced autophagy, and may act as a tumor suppressor (PubMed:22178386). Plays also a role in innate immune response by stimulating NF-kappa-B activity in the TLR2 signaling pathway. Ubiquitinates TRAF6 via the 'Lys-29'-linked polyubiquitination chain resulting in NF-kappa-B activation (PubMed:28087809). Participates as well in T-cell receptor-mediated NF-kappa-B activation (PubMed:25088585). In the presence of TNF, modulates the IKK complex by regulating IKBKG/NEMO ubiquitination leading to the repression of NF-kappa-B (PubMed:25152375). Auto-ubiquitinated; requires the RING-type zinc finger. Auto-polyubiquitination leads to proteasomal degradation. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;ER Quality Control Compartment (ERQC) PE1 13 +NX_O60861 Growth arrest-specific protein 7 476 54371 6.91 0 Cytoplasm;Focal adhesion;Cell membrane;Cytoskeleton NA May play a role in promoting maturation and morphological differentiation of cerebellar neurons. NA NA NA PE1 17 +NX_O60869 Endothelial differentiation-related factor 1 148 16369 9.95 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Transcriptional coactivator stimulating NR5A1 and ligand-dependent NR1H3/LXRA and PPARG transcriptional activities. Enhances the DNA-binding activity of ATF1, ATF2, CREB1 and NR5A1. Regulates nitric oxid synthase activity probably by sequestering calmodulin in the cytoplasm. May function in endothelial cells differentiation, hormone-induced cardiomyocytes hypertrophy and lipid metabolism. Phosphorylated (by PKA and PKC). NA NA PE1 9 +NX_O60870 DNA/RNA-binding protein KIN17 393 45374 9.07 0 Nucleoplasm;Cytoplasm;Nucleus NA Involved in DNA replication and the cellular response to DNA damage. May participate in DNA replication factories and create a bridge between DNA replication and repair mediated by high molecular weight complexes. May play a role in illegitimate recombination and regulation of gene expression. May participate in mRNA processing. Binds, in vitro, to double-stranded DNA. Also shown to bind preferentially to curved DNA in vitro and in vivo (By similarity). Binds via its C-terminal domain to RNA in vitro. NA Belongs to the KIN17 family. Protein methylation PE1 10 +NX_O60879 Protein diaphanous homolog 2 1101 125569 6.2 0 Early endosome;Nucleolus;Endoplasmic reticulum;Cytoplasmic vesicle;Cytosol Premature ovarian failure 2A Could be involved in oogenesis. Involved in the regulation of endosome dynamics. Implicated in a novel signal transduction pathway, in which isoform 3 and CSK are sequentially activated by RHOD to regulate the motility of early endosomes through interactions with the actin cytoskeleton. NA Belongs to the formin homology family. Diaphanous subfamily. Regulation of actin cytoskeleton;RHO GTPases Activate Formins PE1 X +NX_O60880 SH2 domain-containing protein 1A 128 14187 8.74 0 Cytoplasm Lymphoproliferative syndrome, X-linked, 1 Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2 (PubMed:11806999). However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1 (PubMed:12458214). Positively regulates CD244/2B4- and CD84-mediated natural killer (NK) cell functions. Can also promote CD48-, SLAMF6 -, LY9-, and SLAMF7-mediated NK cell activation. In the context of NK cell-mediated cytotoxicity enhances conjugate formation with target cells (By similarity). May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3. NA NA Natural killer cell mediated cytotoxicity;Measles;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 X +NX_O60882 Matrix metalloproteinase-20 483 54387 8.92 0 Extracellular matrix Amelogenesis imperfecta, hypomaturation type, 2A2 Degrades amelogenin, the major protein component of the enamel matrix and two of the macromolecules characterizing the cartilage extracellular matrix: aggrecan and the cartilage oligomeric matrix protein (COMP). May play a central role in tooth enamel formation. Cleaves aggrecan at the '360-Asn-|-Phe-361' site. Autoactivates at least at the 107-Asn-|-Tyr-108 site. Belongs to the peptidase M10A family. Degradation of the extracellular matrix;Collagen degradation;Assembly of collagen fibrils and other multimeric structures PE1 11 +NX_O60883 G-protein coupled receptor 37-like 1 481 52771 7.37 7 Cilium membrane;Cell membrane NA G-protein coupled receptor (PubMed:27072655). Has been shown to bind the neuroprotective and glioprotective factor prosaposin (PSAP), leading to endocytosis followed by an ERK phosphorylation cascade (PubMed:23690594). However, other studies have shown that prosaposin does not increase activity (PubMed:27072655, PubMed:28688853). It has been suggested that GPR37L1 is a constitutively active receptor which signals through the guanine nucleotide-binding protein G(s) subunit alpha (PubMed:27072655). Participates in the regulation of postnatal cerebellar development by modulating the Shh pathway (By similarity). Regulates baseline blood pressure in females and protects against cardiovascular stress in males (By similarity). Mediates inhibition of astrocyte glutamate transporters and reduction in neuronal N-methyl-D-aspartate receptor activity (By similarity). Ubiquitinated.;Undergoes metalloprotease-mediated cleavage which reduces its constitutive activity.;O-glycosylated. Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;Peptide ligand-binding receptors PE1 1 +NX_O60884 DnaJ homolog subfamily A member 2 412 45746 6.06 0 Membrane;Cytosol;Nucleolus;Cytoskeleton NA Co-chaperone of Hsc70. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro) (PubMed:24318877). NA NA Protein processing in endoplasmic reticulum;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 16 +NX_O60885 Bromodomain-containing protein 4 1362 152219 9.23 0 Nucleoplasm;Nucleus;Chromosome NA Acts as a chromatin insulator in the DNA damage response pathway. Inhibits DNA damage response signaling by recruiting the condensin-2 complex to acetylated histones, leading to chromatin structure remodeling, insulating the region from DNA damage response by limiting spreading of histone H2AFX/H2A.x phosphorylation.;Chromatin reader protein that recognizes and binds acetylated histones and plays a key role in transmission of epigenetic memory across cell divisions and transcription regulation. Remains associated with acetylated chromatin throughout the entire cell cycle and provides epigenetic memory for postmitotic G1 gene transcription by preserving acetylated chromatin status and maintaining high-order chromatin structure (PubMed:23589332, PubMed:23317504, PubMed:22334664). During interphase, plays a key role in regulating the transcription of signal-inducible genes by associating with the P-TEFb complex and recruiting it to promoters. Also recruits P-TEFb complex to distal enhancers, so called anti-pause enhancers in collaboration with JMJD6. BRD4 and JMJD6 are required to form the transcriptionally active P-TEFb complex by displacing negative regulators such as HEXIM1 and 7SKsnRNA complex from P-TEFb, thereby transforming it into an active form that can then phosphorylate the C-terminal domain (CTD) of RNA polymerase II (PubMed:23589332, PubMed:19596240, PubMed:16109377, PubMed:16109376, PubMed:24360279). Promotes phosphorylation of 'Ser-2' of the C-terminal domain (CTD) of RNA polymerase II (PubMed:23086925). According to a report, directly acts as an atypical protein kinase and mediates phosphorylation of 'Ser-2' of the C-terminal domain (CTD) of RNA polymerase II; these data however need additional evidences in vivo (PubMed:22509028). In addition to acetylated histones, also recognizes and binds acetylated RELA, leading to further recruitment of the P-TEFb complex and subsequent activation of NF-kappa-B (PubMed:19103749). Also acts as a regulator of p53/TP53-mediated transcription: following phosphorylation by CK2, recruited to p53/TP53 specific target promoters (PubMed:23317504). Phosphorylation by CK2 disrupt the intramolecular binding between the bromo domain 2 and the NPS region and promotes binding between the NPS and the BID regions, leading to activate the protein and promote binding to acetylated histones. In absence of phosphorylation, BRD4 does not localize to p53/TP53 target gene promoters, phosphorylation promoting recruitment to p53/TP53 target promoters.;BRD4 is phosphorylated by CDK7 NA NA PE1 19 +NX_O60888 Protein CutA 179 19116 5.42 0 Focal adhesion;Cell membrane NA May form part of a complex of membrane proteins attached to acetylcholinesterase (AChE). O-glycosylated. Belongs to the CutA family. NA PE1 6 +NX_O60890 Oligophrenin-1 802 91641 8.08 0 Cytoplasm;Dendritic spine;Cell membrane;Postsynapse;Nucleoplasm;Presynapse;Axon;Dendrite Mental retardation, X-linked, syndromic, OPHN1-related Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity). NA NA Rho GTPase cycle PE1 X +NX_O60894 Receptor activity-modifying protein 1 148 16988 8.55 1 Membrane;Nucleoplasm;Nucleus membrane NA Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) to the plasma membrane. Acts as a receptor for calcitonin-gene-related peptide (CGRP) together with CALCRL. NA Belongs to the RAMP family. Vascular smooth muscle contraction;G alpha (s) signalling events;Calcitonin-like ligand receptors PE1 2 +NX_O60895 Receptor activity-modifying protein 2 175 19608 5.49 1 Membrane;Cytoplasmic vesicle NA Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) to the plasma membrane. Acts as a receptor for adrenomedullin (AM) together with CALCRL. NA Belongs to the RAMP family. Vascular smooth muscle contraction;G alpha (s) signalling events;Calcitonin-like ligand receptors PE1 17 +NX_O60896 Receptor activity-modifying protein 3 148 16518 5.32 1 Membrane;Cell membrane NA Plays a role in cardioprotection by reducing cardiac hypertrophy and perivascular fibrosis in a GPER1-dependent manner. Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) and GPER1 to the plasma membrane. Acts as a receptor for adrenomedullin (AM) together with CALCRL. NA Belongs to the RAMP family. Vascular smooth muscle contraction;G alpha (s) signalling events;Calcitonin-like ligand receptors PE1 7 +NX_O60902 Short stature homeobox protein 2 331 34953 8.99 0 Nucleus NA May be a growth regulator and have a role in specifying neural systems involved in processing somatosensory information, as well as in face and body structure formation. NA Belongs to the paired homeobox family. Bicoid subfamily. NA PE1 3 +NX_O60906 Sphingomyelin phosphodiesterase 2 423 47646 6.49 2 Membrane;Cytoplasmic vesicle;Cell junction;Cell membrane NA Converts sphingomyelin to ceramide. Hydrolyze 1-acyl-2-lyso-sn-glycero-3-phosphocholine (lyso-PC) and 1-O-alkyl-2-lyso-sn-glycero-3-phosphocholine (lyso-platelet-activating factor). The physiological substrate seems to be Lyso-PAF. NA Belongs to the neutral sphingomyelinase family. Lipid metabolism; sphingolipid metabolism.;Sphingolipid metabolism;Metabolic pathways;Glycosphingolipid metabolism;Ceramide signalling;TNFR1-mediated ceramide production PE1 6 +NX_O60907 F-box-like/WD repeat-containing protein TBL1X 577 62496 6.08 0 Nucleoplasm;Nucleolus;Nucleus NA F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units (PubMed:14980219). Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange (PubMed:21240272). NA Belongs to the WD repeat EBI family. Wnt signaling pathway;PPARA activates gene expression;HDACs deacetylate histones;Notch-HLH transcription pathway;RORA activates gene expression;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activation of gene expression by SREBF (SREBP);Transcriptional regulation of white adipocyte differentiation;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);Regulation of MECP2 expression and activity;Loss of MECP2 binding ability to the NCoR/SMRT complex PE1 X +NX_O60909 Beta-1,4-galactosyltransferase 2 372 41972 9.47 1 Golgi apparatus;Cytoplasmic vesicle;Golgi stack membrane NA Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. Can produce lactose. NA Belongs to the glycosyltransferase 7 family. Protein modification; protein glycosylation.;Galactose metabolism;N-Glycan biosynthesis;Other types of O-glycan biosynthesis;Glycosaminoglycan biosynthesis - keratan sulfate;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;Keratan sulfate biosynthesis;N-Glycan antennae elongation PE1 1 +NX_O60911 Cathepsin L2 334 37329 8.98 0 Cell membrane;Nucleolus;Nucleoplasm;Lysosome;Cytosol NA Cysteine protease. May have an important role in corneal physiology. NA Belongs to the peptidase C1 family. Lysosome;Degradation of the extracellular matrix;MHC class II antigen presentation;Endosomal/Vacuolar pathway;Trafficking and processing of endosomal TLR;Assembly of collagen fibrils and other multimeric structures;Activation of Matrix Metalloproteinases;RUNX1 regulates transcription of genes involved in differentiation of keratinocytes PE1 9 +NX_O60921 Checkpoint protein HUS1 280 31691 6.37 0 Cytosol;Nucleus NA Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavage activity on substrates with double, nick, or gap flaps of distinct sequences and lengths; and DNA ligase I (LIG1) on long-patch base excision repair substrates. The 9-1-1 complex is necessary for the recruitment of RHNO1 to sites of double-stranded breaks (DSB) occurring during the S phase. NA Belongs to the HUS1 family. Activation of ATR in response to replication stress;G2/M DNA damage checkpoint;HDR through Single Strand Annealing (SSA);Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Regulation of TP53 Activity through Phosphorylation PE1 7 +NX_O60925 Prefoldin subunit 1 122 14210 6.32 0 Cytoplasm;Cytosol;Nucleolus;Cell membrane NA Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins. NA Belongs to the prefoldin subunit beta family. Prefoldin mediated transfer of substrate to CCT/TriC PE1 5 +NX_O60927 E3 ubiquitin-protein ligase PPP1R11 126 13952 6.52 0 Cytoplasmic vesicle NA Atypical E3 ubiquitin-protein ligase which ubiquitinates TLR2 at 'Lys-754' leading to its degradation by the proteasome. Plays a role in regulating inflammatory cytokine release and gram-positive bacterial clearance by functioning, in part, through the ubiquitination and degradation of TLR2 (PubMed:27805901). Inhibitor of protein phosphatase 1 (PubMed:9843442). Auto-ubiquitinated. NA Protein modification; protein ubiquitination. PE1 6 +NX_O60928 Inward rectifier potassium channel 13 360 40530 5.84 2 Membrane Leber congenital amaurosis 16;Snowflake vitreoretinal degeneration Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium. Phosphorylation at Ser-201 by PKC strongly inhibits ionic currents, while phosphorylation at Ser-287 by PKA increases them. Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ13 subfamily. Protein digestion and absorption PE1 2 +NX_O60930 Ribonuclease H1 286 32064 9.28 0 Cytoplasm Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Endonuclease that specifically degrades the RNA of RNA-DNA hybrids (PubMed:10497183). Plays a role in RNA polymerase II (RNAp II) transcription termination by degrading R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site and behind the elongating RNAp II (PubMed:21700224). NA Belongs to the RNase H family. DNA replication PE1 2 +NX_O60931 Cystinosin 367 41738 9.12 7 Cell membrane;Lysosome membrane;Melanosome;Cytoplasmic vesicle;Cytoskeleton Cystinosis, adult, non-nephropathic type;Cystinosis, nephropathic type;Cystinosis, late-onset juvenile or adolescent nephropathic type Cystine/H(+) symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR. NA Belongs to the cystinosin family. Lysosome;Miscellaneous transport and binding events;Transport of inorganic cations/anions and amino acids/oligopeptides PE1 17 +NX_O60934 Nibrin 754 84959 6.5 0 Golgi apparatus;Chromosome;Nucleoplasm;Telomere;PML body;Nucleus Breast cancer;Aplastic anemia;Nijmegen breakage syndrome Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recruiting PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites and activating their functions. It can also recruit MRE11 and RAD50 to the proximity of DSBs by an interaction with the histone H2AX. NBN also functions in telomere length maintenance by generating the 3' overhang which serves as a primer for telomerase dependent telomere elongation. NBN is a major player in the control of intra-S-phase checkpoint and there is some evidence that NBN is involved in G1 and G2 checkpoints. The roles of NBS1/MRN encompass DNA damage sensor, signal transducer, and effector, which enable cells to maintain DNA integrity and genomic stability. Forms a complex with RBBP8 to link DNA double-strand break sensing to resection. Enhances AKT1 phosphorylation possibly by association with the mTORC2 complex. Phosphorylated by ATM in response of ionizing radiation, and such phosphorylation is responsible intra-S phase checkpoint control and telomere maintenance. NA Homologous recombination;DNA Damage/Telomere Stress Induced Senescence;Meiotic recombination;G2/M DNA damage checkpoint;Sensing of DNA Double Strand Breaks;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;HDR through Single Strand Annealing (SSA);HDR through MMEJ (alt-NHEJ);HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Nonhomologous End-Joining (NHEJ);Regulation of TP53 Activity through Phosphorylation PE1 8 +NX_O60936 Nucleolar protein 3 208 22629 4.11 0 Cytoplasm;Mitochondrion;Nucleolus;Membrane;Nucleoplasm;Sarcoplasmic reticulum;Cytosol Myoclonus, familial, 1 May be involved in RNA splicing.;Functions as an apoptosis repressor that blocks multiple modes of cell death. Inhibits extrinsic apoptotic pathways through two different ways. Firstly by interacting with FAS and FADD upon FAS activation blocking death-inducing signaling complex (DISC) assembly (By similarity). Secondly by interacting with CASP8 in a mitochondria localization- and phosphorylation-dependent manner, limiting the amount of soluble CASP8 available for DISC-mediated activation (By similarity). Inhibits intrinsic apoptotic pathway in response to a wide range of stresses, through its interaction with BAX resulting in BAX inactivation, preventing mitochondrial dysfunction and release of pro-apoptotic factors (PubMed:15004034). Inhibits calcium-mediated cell death by functioning as a cytosolic calcium buffer, dissociating its interaction with CASP8 and maintaining calcium homeostasis (PubMed:15509781). Negatively regulates oxidative stress-induced apoptosis by phosphorylation-dependent suppression of the mitochondria-mediated intrinsic pathway, by blocking CASP2 activation and BAX translocation (By similarity). Negatively regulates hypoxia-induced apoptosis in part by inhibiting the release of cytochrome c from mitochondria in a caspase-independent manner (By similarity). Also inhibits TNF-induced necrosis by preventing TNF-signaling pathway through TNFRSF1A interaction abrogating the recruitment of RIPK1 to complex I (By similarity). Finally through its role as apoptosis repressor, promotes vascular remodeling through inhibition of apoptosis and stimulation of proliferation, in response to hypoxia (By similarity). Inhibits too myoblast differentiation through caspase inhibition (By similarity). Polyubiquitinated by MDM2; promoting proteasomal-dependent degradation in response to apoptotic stimuli.;Phosphorylation at Thr-149 is required for its antiapoptotic effect by blocking death-inducing signaling complex death-inducing signaling complex (DISC) activity through the control of interaction with CASP8. Phosphorylation at Thr-149 results in translocation to mitochondria and this translocation enables the binding to CASP8. Dephosphorylated at Thr-149 by calcineurin; doesn't inhibit the association between FADD and CASP8 and the consequent apoptosis. NA NA PE1 16 +NX_O60938 Keratocan 352 40509 7.11 0 Extracellular matrix Cornea plana 2, autosomal recessive May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix. Binds keratan sulfate chains. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily. Keratan sulfate biosynthesis;Defective CHST6 causes MCDC1;Keratan sulfate degradation;Defective B4GALT1 causes B4GALT1-CDG (CDG-2d);Defective ST3GAL3 causes MCT12 and EIEE15 PE1 12 +NX_O60939 Sodium channel subunit beta-2 215 24326 5.98 1 Membrane Atrial fibrillation, familial, 14 Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-2 causes an increase in the plasma membrane surface area and in its folding into microvilli. Interacts with TNR may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier (By similarity). NA Belongs to the sodium channel auxiliary subunit SCN2B (TC 8.A.17) family. Interaction between L1 and Ankyrins;Phase 0 - rapid depolarisation PE1 11 +NX_O60941 Dystrobrevin beta 627 71356 8.11 0 Cytoplasm;Mitochondrion NA NA NA Belongs to the dystrophin family. Dystrobrevin subfamily. NA PE1 2 +NX_O60942 mRNA-capping enzyme 597 68557 8.43 0 Nucleoplasm;Nucleus NA Bifunctional mRNA-capping enzyme exhibiting RNA 5'-triphosphatase activity in the N-terminal part and mRNA guanylyltransferase activity in the C-terminal part. Catalyzes the first two steps of cap formation: by removing the gamma-phosphate from the 5'-triphosphate end of nascent mRNA to yield a diphosphate end, and by transferring the gmp moiety of GTP to the 5'-diphosphate terminus. NA In the N-terminal section; belongs to the non-receptor class of the protein-tyrosine phosphatase family.;In the C-terminal section; belongs to the eukaryotic GTase family. mRNA surveillance pathway;mRNA Capping;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;RNA Pol II CTD phosphorylation and interaction with CE PE1 6 +NX_O71037 Endogenous retrovirus group K member 19 Env polyprotein 699 79252 9.2 1 Virion;Cell membrane NA SU mediates receptor recognition.;Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.;TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity). Specific enzymatic cleavages in vivo yield the mature SU and TM proteins. Belongs to the beta type-B retroviral envelope protein family. HERV class-II K(HML-2) env subfamily. NA PE1 19 +NX_O75015 Low affinity immunoglobulin gamma Fc region receptor III-B 233 26216 6.22 0 Secreted;Cell membrane NA Receptor for the Fc region of immunoglobulins gamma. Low affinity receptor. Binds complexed or aggregated IgG and also monomeric IgG. Contrary to III-A, is not capable to mediate antibody-dependent cytotoxicity and phagocytosis. May serve as a trap for immune complexes in the peripheral circulation which does not activate neutrophils. The soluble form is produced by a proteolytic cleavage.;Glycosylated. Glycosylation plays an inhibitory role in the interaction with IgG3. NA Phagosome;Osteoclast differentiation;Natural killer cell mediated cytotoxicity;Leishmaniasis;Staphylococcus aureus infection;Tuberculosis;Systemic lupus erythematosus;Neutrophil degranulation;Post-translational modification: synthesis of GPI-anchored proteins PE1 1 +NX_O75019 Leukocyte immunoglobulin-like receptor subfamily A member 1 489 53275 7.97 1 Membrane NA May act as receptor for class I MHC antigens. NA NA Osteoclast differentiation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_O75022 Leukocyte immunoglobulin-like receptor subfamily B member 3 631 69386 6.45 1 Cell membrane NA May act as receptor for class I MHC antigens. Becomes activated upon coligation of LILRB3 and immune receptors, such as FCGR2B and the B-cell receptor. Down-regulates antigen-induced B-cell activation by recruiting phosphatases to its immunoreceptor tyrosine-based inhibitor motifs (ITIM). Phosphorylated on tyrosine residues by LYN. Phosphorylation at Tyr-595 and Tyr-625 is important for interaction with PTPN6/SHP-1 and PTPN11/SHP-2.;LILRB3 is phosphorylated by LYN (Phosphotyrosine:PTM-0255) NA Osteoclast differentiation;B cell receptor signaling pathway;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Neutrophil degranulation PE1 19 +NX_O75023 Leukocyte immunoglobulin-like receptor subfamily B member 5 590 64126 6.92 1 Membrane NA May act as receptor for class I MHC antigens. NA NA Osteoclast differentiation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_O75027 ATP-binding cassette sub-family B member 7, mitochondrial 752 82641 9.37 6 Mitochondrion inner membrane;Mitochondrion Anemia, sideroblastic, spinocerebellar ataxia Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins. NA Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily. ABC transporters;Cytosolic iron-sulfur cluster assembly;Mitochondrial ABC transporters PE1 X +NX_O75030 Microphthalmia-associated transcription factor 526 58795 5.93 0 Nucleus Waardenburg syndrome 2, with ocular albinism, autosomal recessive;Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;Waardenburg syndrome 2A;Tietz albinism-deafness syndrome;Melanoma, cutaneous malignant 8 Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium. Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter. Phosphorylated at Ser-180 and Ser-516 following KIT signaling, trigerring a short live activation: Phosphorylation at Ser-180 and Ser-516 by MAPK and RPS6KA1, respectively, activate the transcription factor activity but also promote ubiquitination and subsequent degradation by the proteasome.;Ubiquitinated following phosphorylation at Ser-180, leading to subsequent degradation by the proteasome. Deubiquitinated by USP13, preventing its degradation. Belongs to the MiT/TFE family. Osteoclast differentiation;Melanogenesis;Pathways in cancer;Melanoma;SUMOylation of transcription factors PE1 3 +NX_O75031 Heat shock factor 2-binding protein 334 37645 5.43 0 Nucleoplasm;Cytosol;Cytoplasm NA May be involved in modulating HSF2 activation in testis (PubMed:9651507). Inhibits BNC1 transcriptional activity during spermatogenesis, probably by sequestering it in the cytoplasm (By similarity). Sumoylated by UBE2I in response to MEKK1-mediated stimuli. NA NA PE1 21 +NX_O75037 Kinesin-like protein KIF21B 1637 182662 6.7 0 Axon;Cell membrane;Growth cone;Cytoplasmic vesicle;Cytosol;Spindle;Dendrite;Cytoskeleton NA Plus-end directed microtubule-dependent motor protein which displays processive activity. Is involved in regulation of microtubule dynamics, synapse function and neuronal morphology, including dendritic tree branching and spine formation. Plays a role in lerning and memory. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptor to cell surface. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 1 +NX_O75038 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 1416 154668 8.04 0 Cytoplasm;Cell membrane NA The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This phospholipase activity is very sensitive to calcium. May be important for formation and maintenance of the neuronal network in the postnatal brain (By similarity). NA NA Synthesis of IP3 and IP4 in the cytosol PE1 1 +NX_O75044 SLIT-ROBO Rho GTPase-activating protein 2 1071 120871 6.25 0 Cytoplasm;Dendritic spine;Cell membrane;Postsynaptic cell membrane;Lamellipodium;Phagosome;Postsynaptic density;Nucleus NA RAC1 GTPase activating protein (GAP) that binds and deforms membranes, and regulates actin dynamics to regulate cell migration and differentiation. Plays an important role in different aspects of neuronal morphogenesis and migration mainly during development of the cerebral cortex. This includes the biogenesis of neurites, where it is required for both axons and dendrites outgrowth, and the maturation of the dendritic spines. Also stimulates the branching of the leading process and negatively regulates neuron radial migration in the cerebral cortex. Its interaction and inhibition by SRGAP2C reduces the rate of spine maturation, alters dendritic spine morphology and density and indirectly increases neuronal migration. It may have implications for cognition, learning and memory. In non-neuronal cells, it may also play a role in cell migration by regulating the formation of lamellipodia and filopodia. Methylation at Arg-927 is required for the stimulation of cell migration, dimerization and localization at the plasma membrane protrusions. NA Axon guidance;RHO GTPases Activate Formins;Rho GTPase cycle;Inactivation of CDC42 and RAC1 PE1 1 +NX_O75051 Plexin-A2 1894 211104 6.05 1 Cell membrane NA Coreceptor for SEMA3A and SEMA6A. Necessary for signaling by SEMA6A and class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm (By similarity). NA Belongs to the plexin family. Axon guidance;SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion;Sema3A PAK dependent Axon repulsion;CRMPs in Sema3A signaling;Other semaphorin interactions PE1 1 +NX_O75052 Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein 506 56150 5.89 0 Nucleoplasm;Cytoplasmic vesicle NA Adapter protein involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1. The complex formed with NOS1 and synapsins is necessary for specific NO and synapsin functions at a presynaptic level. Mediates an indirect interaction between NOS1 and RASD1 leading to enhance the ability of NOS1 to activate RASD1. Competes with DLG4 for interaction with NOS1, possibly affecting NOS1 activity by regulating the interaction between NOS1 and DLG4 (By similarity). NA NA NA PE1 1 +NX_O75054 Immunoglobulin superfamily member 3 1194 135196 5.75 1 Membrane;Nucleoplasm;Cytosol Lacrimal duct defect NA NA NA NA PE1 1 +NX_O75056 Syndecan-3 442 45497 4.61 1 Nucleoplasm;Mitochondrion;Cell membrane NA Cell surface proteoglycan that may bear heparan sulfate (By similarity). May have a role in the organization of cell shape by affecting the actin cytoskeleton, possibly by transferring signals from the cell surface in a sugar-dependent mechanism. O-glycosylated within the Thr/Ser-rich region which could interact with lectin domains on other molecules. Belongs to the syndecan proteoglycan family. ECM-receptor interaction;Cell adhesion molecules (CAMs);Malaria;Retinoid metabolism and transport;HS-GAG biosynthesis;A tetrasaccharide linker sequence is required for GAG synthesis;HS-GAG degradation;Syndecan interactions;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;Defective EXT2 causes exostoses 2;Defective EXT1 causes exostoses 1, TRPS2 and CHDS;Cell surface interactions at the vascular wall;Defective B3GALT6 causes EDSP2 and SEMDJL1 PE1 1 +NX_O75061 Putative tyrosine-protein phosphatase auxilin 913 99997 6.82 0 Nucleoplasm;Cytosol;Cell membrane Parkinson disease 19B, early-onset;Parkinson disease 19A, juvenile-onset Recruits HSPA8/HSC70 to clathrin-coated vesicles and promotes uncoating of clathrin-coated vesicles. Plays a role in clathrin-mediated endocytosis in neurons (By similarity). NA NA Endocytosis;Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis;Clathrin-mediated endocytosis PE1 1 +NX_O75063 Glycosaminoglycan xylosylkinase 409 46432 6.4 1 Golgi apparatus;Nucleoplasm;Golgi apparatus membrane NA Responsible for the 2-O-phosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature GAG chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG-protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-O-phosphorylation may influence the catalytic activity of B3GAT3 (GlcAT-I) which completes the precursor tetrasaccharide of GAG-protein linkage regions on which the repeating disaccharide region is synthesized. NA Belongs to the FAM20 family. NA PE1 1 +NX_O75064 DENN domain-containing protein 4B 1496 163847 6.85 0 Golgi apparatus;Nucleoplasm NA Guanine nucleotide exchange factor (GEF) which may activate RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. NA NA RAB GEFs exchange GTP for GDP on RABs PE1 1 +NX_O75069 Transmembrane and coiled-coil domains protein 2 709 77449 6.34 2 Endoplasmic reticulum membrane NA May be involved in the regulation of the proteolytic processing of the amyloid precursor protein (APP) possibly also implicating APOE. NA Belongs to the TEX28 family. NA PE1 1 +NX_O75071 EF-hand calcium-binding domain-containing protein 14 495 55031 5.98 0 Golgi apparatus;Cytosol;Nucleolus NA NA NA NA NA PE1 1 +NX_O75072 Fukutin 461 53724 8.63 1 Cytoplasm;Nucleus;Golgi apparatus membrane Cardiomyopathy, dilated 1X;Muscular dystrophy-dystroglycanopathy limb-girdle C4;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4;Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 Catalyzes the transfer of CDP-ribitol to the distal N-acetylgalactosamine of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:25279699). Could be involved in brain development (Probable). NA Belongs to the LicD transferase family. Protein modification; protein glycosylation. PE1 9 +NX_O75074 Low-density lipoprotein receptor-related protein 3 770 82884 5.83 1 Membrane;Coated pit;Lipid droplet NA Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. Its precise role is however unclear, since it does not bind to very low density lipoprotein (VLDL) or to LRPAP1 in vitro. NA Belongs to the LDLR family. NA PE1 19 +NX_O75077 Disintegrin and metalloproteinase domain-containing protein 23 832 91926 7.85 1 Secreted;Cell membrane NA May play a role in cell-cell and cell-matrix interactions. This is a non-catalytic metalloprotease-like protein. NA NA LGI-ADAM interactions PE1 2 +NX_O75078 Disintegrin and metalloproteinase domain-containing protein 11 769 83418 6.91 1 Membrane NA Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein. The precursor is cleaved by a furin endopeptidase. NA LGI-ADAM interactions PE1 17 +NX_O75081 Protein CBFA2T3 653 71192 8.5 0 Nucleoplasm;Nucleolus;Golgi apparatus membrane NA Functions as an A-kinase-anchoring protein (PubMed:11823486).;Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). Reduces the protein levels and stability of the transcriptinal regulator HIF1A; interacts with EGLN1 and promotes the HIF1A prolyl hydroxylation-dependent ubiquitination and proteasomal degradation pathway (PubMed:25974097). Contributes to inhibition of glycolysis and stimulation of mitochondrial respiration by down-regulating the expression of glycolytic genes including PFKFB3, PFKFB4, PDK1, PFKP, LDHA and HK1 which are direct targets of HIF1A (PubMed:23840896, PubMed:25974097). Regulates the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Plays a role in granulocyte differentiation (PubMed:15231665). NA Belongs to the CBFA2T family. NA PE1 16 +NX_O75083 WD repeat-containing protein 1 606 66194 6.17 0 Cytoplasm;Cell membrane;Cell junction;Podosome;Cytoskeleton NA Induces disassembly of actin filaments in conjunction with ADF/cofilin family proteins (PubMed:15629458). Enhances cofilin-mediated actin severing (By similarity). Involved in cytokinesis. Involved in chemotactic cell migration by restricting lamellipodial membrane protrusions (PubMed:18494608). Involved in myocardium sarcomere organization. Required for cardiomyocyte growth and maintenance (By similarity). Involved in megakaryocyte maturation and platelet shedding. Required for the establishment of planar cell polarity (PCP) during follicular epithelium development and for cell shape changes during PCP; the function seems to implicate cooperation with CFL1 and/or DSTN/ADF. Involved in the generation/maintenance of cortical tension (By similarity). Involved in assembly and maintenance of epithelial apical cell junctions and plays a role in the organization of the perijunctional actomyosin belt (PubMed:25792565). NA Belongs to the WD repeat AIP1 family. Platelet degranulation PE1 4 +NX_O75084 Frizzled-7 574 63620 8.12 7 Cytoplasmic vesicle;Cell membrane;Endosome membrane NA Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Ubiquitinated by ZNRF3, leading to its degradation by the proteasome. Belongs to the G-protein coupled receptor Fz/Smo family. Wnt signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;Asymmetric localization of PCP proteins;Class B/2 (Secretin family receptors);PCP/CE pathway PE1 2 +NX_O75093 Slit homolog 1 protein 1534 167926 6.14 0 Secreted;Cell membrane NA Thought to act as molecular guidance cue in cellular migration, and function appears to be mediated by interaction with roundabout homolog receptors. During neural development involved in axonal navigation at the ventral midline of the neural tube and projection of axons to different regions (By similarity). SLIT1 and SLIT2 together seem to be essential for midline guidance in the forebrain by acting as repulsive signal preventing inappropriate midline crossing by axons projecting from the olfactory bulb. NA NA Axon guidance;Netrin-1 signaling;Signaling by ROBO receptors;Regulation of commissural axon pathfinding by SLIT and ROBO;Regulation of expression of SLITs and ROBOs;Regulation of cortical dendrite branching PE1 10 +NX_O75094 Slit homolog 3 protein 1523 167713 7.99 0 Cell junction;Secreted NA May act as molecular guidance cue in cellular migration, and function may be mediated by interaction with roundabout homolog receptors. NA NA Axon guidance;Netrin-1 signaling;Signaling by ROBO receptors;Regulation of commissural axon pathfinding by SLIT and ROBO PE1 5 +NX_O75095 Multiple epidermal growth factor-like domains protein 6 1541 161185 5.94 0 Cytoplasm;Secreted;Cytoskeleton NA NA NA NA NA PE1 1 +NX_O75096 Low-density lipoprotein receptor-related protein 4 1905 212045 5.06 1 Nucleoplasm;Mitochondrion;Nucleolus;Cell membrane Myasthenic syndrome, congenital, 17;Cenani-Lenz syndactyly syndrome;Sclerosteosis 2 Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between motor neuron and skeletal muscle. Directly binds AGRIN and recruits it to the MUSK signaling complex. Mediates the AGRIN-induced phosphorylation of MUSK, the kinase of the complex. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Alternatively, may be involved in the negative regulation of the canonical Wnt signaling pathway, being able to antagonize the LRP6-mediated activation of this pathway. More generally, has been proposed to function as a cell surface endocytic receptor binding and internalizing extracellular ligands for degradation by lysosomes. May play an essential role in the process of digit differentiation (By similarity). NA Belongs to the LDLR family. ECM proteoglycans PE1 11 +NX_O75106 Retina-specific copper amine oxidase 756 83673 6.54 0 Cytoplasm;Cell membrane NA Has a monoamine oxidase activity with substrate specificity for 2-phenylethylamine and tryptamine. May play a role in adipogenesis. May be a critical modulator of signal transmission in retina. Topaquinone (TPQ) is generated by copper-dependent autoxidation of a specific tyrosyl residue. Belongs to the copper/topaquinone oxidase family. Glycine, serine and threonine metabolism;Tyrosine metabolism;Phenylalanine metabolism;beta-Alanine metabolism;Metabolic pathways;Phase I - Functionalization of compounds PE1 17 +NX_O75110 Probable phospholipid-transporting ATPase IIA 1047 118583 8.01 10 Early endosome membrane;Recycling endosome;trans-Golgi network membrane NA NA NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. Ion transport by P-type ATPases PE1 20 +NX_O75112 LIM domain-binding protein 3 727 77135 8.47 0 Focal adhesion;Nucleoplasm;Pseudopodium;Cytosol;Z line;Perinuclear region;Cytoskeleton Cardiomyopathy, dilated 1C, with or without left ventricular non-compaction;Left ventricular non-compaction 3;Myopathy, myofibrillar, 4 May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton. NA NA NA PE1 10 +NX_O75113 NEDD4-binding protein 1 896 100379 5.24 0 Nucleolus;PML body NA Inhibitor of the E3 ubiquitin-protein ligase ITCH. Acts by interacting with the second WW domain of ITCH, leading to compete with ITCH's substrates and impairing ubiquitination of substrates (By similarity). Monoubiquitinated by NEDD4. Polyubiquitinated, leading to its degradation by the proteasome. Sumoylated with SUMO1, abrogating polyubiquitination and subsequent degradation. Desumoylated by SENP1, leading to accumulation in PML nuclear bodies (By similarity). Belongs to the N4BP1 family. NA PE1 16 +NX_O75116 Rho-associated protein kinase 2 1388 160900 5.75 0 Cytoplasm;Cell membrane;Centrosome;Cytosol;Nucleus NA Protein kinase which is a key regulator of actin cytoskeleton and cell polarity. Involved in regulation of smooth muscle contraction, actin cytoskeleton organization, stress fiber and focal adhesion formation, neurite retraction, cell adhesion and motility via phosphorylation of ADD1, BRCA2, CNN1, EZR, DPYSL2, EP300, MSN, MYL9/MLC2, NPM1, RDX, PPP1R12A and VIM. Phosphorylates SORL1 and IRF4. Acts as a negative regulator of VEGF-induced angiogenic endothelial cell activation. Positively regulates the activation of p42/MAPK1-p44/MAPK3 and of p90RSK/RPS6KA1 during myogenic differentiation. Plays an important role in the timely initiation of centrosome duplication. Inhibits keratinocyte terminal differentiation. May regulate closure of the eyelids and ventral body wall through organization of actomyosin bundles. Plays a critical role in the regulation of spine and synaptic properties in the hippocampus. Plays an important role in generating the circadian rhythm of the aortic myofilament Ca(2+) sensitivity and vascular contractility by modulating the myosin light chain phosphorylation. Cleaved by granzyme B during apoptosis. This leads to constitutive activation of the kinase and membrane blebbing.;Phosphorylation at Tyr-722 reduces its binding to RHOA and is crucial for focal adhesion dynamics. Dephosphorylation by PTPN11 stimulates its RHOA binding activity. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. Chemokine signaling pathway;Vascular smooth muscle contraction;Wnt signaling pathway;TGF-beta signaling pathway;Axon guidance;Focal adhesion;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Pathogenic Escherichia coli infection;Shigellosis;Salmonella infection;EPHB-mediated forward signaling;G alpha (12/13) signalling events;VEGFA-VEGFR2 Pathway;EPHA-mediated growth cone collapse;Sema4D induced cell migration and growth-cone collapse;RHO GTPases Activate ROCKs PE1 2 +NX_O75121 Microfibrillar-associated protein 3-like 409 45380 5.13 1 Cytoplasm;Cell membrane;Cell junction;Nucleoplasm;Nucleus NA May participate in the nuclear signaling of EGFR and MAPK1/ERK2. May a have a role in metastasis. NA NA NA PE1 4 +NX_O75122 CLIP-associating protein 2 1294 141064 8.62 0 trans-Golgi network;Golgi apparatus;Cell membrane;Centrosome;Ruffle membrane;Cytosol;Spindle;Kinetochore;Cytoskeleton NA Microtubule plus-end tracking protein that promotes the stabilization of dynamic microtubules (PubMed:26003921). Involved in the nucleation of noncentrosomal microtubules originating from the trans-Golgi network (TGN). Required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. May act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus-ends to cortical platforms composed of ERC1 and PHLDB2 (PubMed:16824950). This cortical microtubule stabilizing activity is regulated at least in part by phosphatidylinositol 3-kinase signaling. Also performs a similar stabilizing function at the kinetochore which is essential for the bipolar alignment of chromosomes on the mitotic spindle (PubMed:16866869, PubMed:16914514). Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. Phosphorylated by GSK3B. Phosphorylation reduces MAPRE1 binding (PubMed:26003921). Phosphorylation by GSK3B may negatively regulate binding to microtubule lattices in lamella. Belongs to the CLASP family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Role of ABL in ROBO-SLIT signaling;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 3 +NX_O75123 Zinc finger protein 623 536 61392 8.52 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 8 +NX_O75127 Pentatricopeptide repeat-containing protein 1, mitochondrial 700 78856 8.81 0 Mitochondrion matrix;Mitochondrion NA Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria-encoded proteins and COX activity. Affects also the 3'-processing of mitochondrial tRNAs. NA Belongs to the PTCD1 family. NA PE1 7 +NX_O75128 Protein cordon-bleu 1261 135617 7.66 0 Cytoplasm;Cell membrane;Cell junction;Ruffle;Cytoskeleton NA Plays an important role in the reorganization of the actin cytoskeleton. Regulates neuron morphogenesis and increases branching of axons and dendrites. Regulates dendrite branching in Purkinje cells (By similarity). Binds to and sequesters actin monomers (G actin). Nucleates actin polymerization by assembling three actin monomers in cross-filament orientation and thereby promotes growth of actin filaments at the barbed end. Can also mediate actin depolymerization at barbed ends and severing of actin filaments. Promotes formation of cell ruffles. NA NA NA PE1 7 +NX_O75129 Astrotactin-2 1339 148243 5.66 2 Clathrin-coated vesicle;Cell cortex;Early endosome;Perikaryon;Membrane;Nucleoplasm;Late endosome;Cytoplasmic vesicle;Cytosol NA Mediates recycling of the neuronal cell adhesion molecule ASTN1 to the anterior pole of the cell membrane in migrating neurons. Promotes ASTN1 internalization and intracellular transport of endocytosed ASTN1 (By similarity). Selectively binds inositol-4,5-bisphosphate, inositol-3,4,5-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, suggesting it is recruited to membranes that contain lipids with a phosphoinositide headgroup (Ref.6). NA Belongs to the astrotactin family. NA PE1 9 +NX_O75131 Copine-3 537 60131 5.6 0 Cytoplasm;Mitochondrion;Cell membrane;Cell junction;Focal adhesion;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Calcium-dependent phospholipid-binding protein that plays a role in ERBB2-mediated tumor cell migration in response to growth factor heregulin stimulation (PubMed:20010870). Phosphorylated on serine and threonine residues (PubMed:11041869). Belongs to the copine family. Glycerophospholipid biosynthesis;Neutrophil degranulation PE1 8 +NX_O75132 Zinc finger BED domain-containing protein 4 1171 130322 6.38 0 Nucleoplasm;Cytoplasm;Nucleus NA NA NA NA NA PE1 22 +NX_O75140 GATOR complex protein DEPDC5 1603 181264 6.27 0 Cytosol;Lysosome membrane;Perinuclear region Epilepsy, familial focal, with variable foci 1 As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway. Ubiquitinated. Amino acid-induced 'Lys-48'-linked polyubiquitination of DEPDC5 by the BCR(KLHL22) ubiquitin ligase complex leads to DEPDC5 proteasomal degradation and inhibition of the GATOR1 complex (PubMed:29769719). Ubiquitination may occur at multiple lysines (PubMed:29769719). Belongs to the IML1 family. NA PE1 22 +NX_O75143 Autophagy-related protein 13 517 56572 4.98 0 Nucleoplasm;Preautophagosomal structure;Cell membrane;Cytosol NA Autophagy factor required for autophagosome formation and mitophagy. Target of the TOR kinase signaling pathway that regulates autophagy through the control of the phosphorylation status of ATG13 and ULK1, and the regulation of the ATG13-ULK1-RB1CC1 complex. Through its regulation of ULK1 activity, plays a role in the regulation of the kinase activity of mTORC1 and cell proliferation. Phosphorylated by ULK1, ULK2 and mTOR. Phosphorylation status depends on nutrient-rich conditions; dephosphorylated during starvation or following treatment with rapamycin. ULK1-mediated phosphorylation of ATG13 at Ser-355 is required for efficient clearance of depolarized mitochondria.;ATG13 is phosphorylated by ULK2 Belongs to the ATG13 family. Metazoan subfamily. Macroautophagy PE1 11 +NX_O75144 ICOS ligand 302 33349 5.15 1 Cytosol;Cell membrane NA Ligand for the T-cell-specific cell surface receptor ICOS. Acts as a costimulatory signal for T-cell proliferation and cytokine secretion; induces also B-cell proliferation and differentiation into plasma cells. Could play an important role in mediating local tissue responses to inflammatory conditions, as well as in modulating the secondary immune response by co-stimulating memory T-cell function (By similarity). NA Belongs to the immunoglobulin superfamily. BTN/MOG family. Cell adhesion molecules (CAMs);Intestinal immune network for IgA production;Costimulation by the CD28 family PE1 21 +NX_O75145 Liprin-alpha-3 1194 133496 5.53 0 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Acrosome NA May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates. NA Belongs to the liprin family. Liprin-alpha subfamily. Acetylcholine Neurotransmitter Release Cycle;Glutamate Neurotransmitter Release Cycle;Norepinephrine Neurotransmitter Release Cycle;Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle;Receptor-type tyrosine-protein phosphatases PE1 19 +NX_O75146 Huntingtin-interacting protein 1-related protein 1068 119388 6.22 0 Cell membrane;Endomembrane system;Clathrin-coated vesicle membrane;Cytoplasmic vesicle;Cytosol;Perinuclear region NA Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin cytoskeleton. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis. NA Belongs to the SLA2 family. Golgi Associated Vesicle Biogenesis;Clathrin-mediated endocytosis PE1 12 +NX_O75147 Obscurin-like protein 1 1896 206947 5.42 0 Golgi apparatus;Cytoplasm;Perinuclear region;Centrosome 3M syndrome 2 Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons. NA NA Neddylation PE1 2 +NX_O75150 E3 ubiquitin-protein ligase BRE1B 1001 113678 5.97 0 Nucleoplasm;Nucleus NA Component of the RNF20/40 E3 ubiquitin-protein ligase complex that mediates monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1). H2BK120ub1 gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation (H3K4me and H3K79me, respectively). It thereby plays a central role in histone code and gene regulation. The RNF20/40 complex forms a H2B ubiquitin ligase complex in cooperation with the E2 enzyme UBE2A or UBE2B; reports about the cooperation with UBE2E1/UBCH are contradictory. Required for transcriptional activation of Hox genes. NA Belongs to the BRE1 family. Protein modification; protein ubiquitination.;E3 ubiquitin ligases ubiquitinate target proteins PE1 16 +NX_O75151 Lysine-specific demethylase PHF2 1096 120775 9.25 0 Kinetochore;Nucleoplasm;Nucleolus NA Lysine demethylase that demethylates both histones and non-histone proteins. Enzymatically inactive by itself, and becomes active following phosphorylation by PKA: forms a complex with ARID5B and mediates demethylation of methylated ARID5B. Demethylation of ARID5B leads to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes. The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver. PHF2 is recruited to trimethylated 'Lys-4' of histone H3 (H3K4me3) at rDNA promoters and promotes expression of rDNA. Phosphorylated by PKA on specific serine residues, leading to the formation of an active lysine demethylase complex. Belongs to the JHDM1 histone demethylase family. JHDM1D subfamily. HDMs demethylate histones PE1 9 +NX_O75152 Zinc finger CCCH domain-containing protein 11A 810 89131 8.62 0 NA NA Involved in nuclear mRNA export; probably mediated by association with the TREX complex. NA NA Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 1 +NX_O75153 Clustered mitochondria protein homolog 1309 146670 5.75 0 Cytoplasm;Cytoplasmic granule;Nucleus;Cytoplasmic vesicle NA MRNA-binding protein involved in proper cytoplasmic distribution of mitochondria. Specifically binds mRNAs of nuclear-encoded mitochondrial proteins in the cytoplasm and regulates transport or translation of these transcripts close to mitochondria, playing a role in mitochondrial biogenesis. NA Belongs to the CLU family. NA PE1 17 +NX_O75154 Rab11 family-interacting protein 3 756 82440 4.44 0 Cleavage furrow;Centriolar satellite;Centrosome;Recycling endosome membrane;Cytoplasmic vesicle;Midbody;Cytoskeleton NA Acts as a regulator of endocytic traffic by participating in membrane delivery. Required for the abcission step in cytokinesis, possibly by acting as an 'address tag' delivering recycling endosome membranes to the cleavage furrow during late cytokinesis. Also required for the structural integrity of the endosomal recycling compartment during interphase. May play a role in breast cancer cell motility by regulating actin cytoskeleton. Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track) (PubMed:25035494). Phosphorylated at Ser-102 by CDK1 during metaphase, and dephosphorylated as cells enter telophase. NA Endocytosis;VxPx cargo-targeting to cilium PE1 16 +NX_O75155 Cullin-associated NEDD8-dissociated protein 2 1236 135256 5.44 0 Cytosol;Nucleus NA Probable assembly factor of SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complexes that promotes the exchange of the substrate-recognition F-box subunit in SCF complexes, thereby playing a key role in the cellular repertoire of SCF complexes. Ubiquitinated and targeted for proteasomal degradation. Belongs to the CAND family. NA PE1 3 +NX_O75157 TSC22 domain family protein 2 780 79228 4.9 0 Cytosol NA NA NA Belongs to the TSC-22/Dip/Bun family. NA PE1 3 +NX_O75159 Suppressor of cytokine signaling 5 536 61246 8.87 0 Nucleoplasm;Cytosol;Cell membrane NA SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. May be a substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Inhibits for instance EGF signaling by mediating the degradation of the EGF receptor/EGFR. Involved in the regulation of T-helper cell differentiation by inhibiting of the IL4 signaling pathway which promotes differentiation into the Th2 phenotype. Can also partially inhibit IL6 and LIF signaling. Phosphorylated. Phosphorylation is induced by EGF. NA Protein modification; protein ubiquitination.;Jak-STAT signaling pathway;Interleukin-4 and Interleukin-13 signaling;Neddylation PE1 2 +NX_O75161 Nephrocystin-4 1426 157598 8.4 0 Cilium basal body;Nucleoplasm;Tight junction;Centrosome;Cytoplasmic vesicle;Cytosol;Nucleus Senior-Loken syndrome 4;Nephronophthisis 4 Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module (PubMed:19755384, PubMed:21565611). Does not seem to be strictly required for ciliogenesis (PubMed:21565611). Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruit INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1 (By similarity). In cooperation with INVS may downregulate the canonical Wnt pathway and promote the Wnt-PCP pathway by regulating expression and subcellular location of disheveled proteins. Stabilizes protein levels of JADE1 and promotes its translocation to the nucleus leading to cooperative inhibition of canonical Wnt signaling (PubMed:21498478, PubMed:22654112). Acts as negative regulator of the hippo pathway by association with LATS1 and modifying LATS1-dependent phosphorylation and localization of WWTR1/TAZ (PubMed:21555462). NA Belongs to the NPHP4 family. Anchoring of the basal body to the plasma membrane;Signaling by Hippo PE1 1 +NX_O75164 Lysine-specific demethylase 4A 1064 120662 5.61 0 Nucleolus;Nucleus NA Crucial for muscle differentiation, promotes transcriptional activation of the Myog gene by directing the removal of repressive chromatin marks at its promoter. Lacks the N-terminal demethylase domain.;Histone demethylase that specifically demethylates 'Lys-9' and 'Lys-36' residues of histone H3, thereby playing a central role in histone code (PubMed:26741168). Does not demethylate histone H3 'Lys-4', H3 'Lys-27' nor H4 'Lys-20'. Demethylates trimethylated H3 'Lys-9' and H3 'Lys-36' residue, while it has no activity on mono- and dimethylated residues. Demethylation of Lys residue generates formaldehyde and succinate. Participates in transcriptional repression of ASCL2 and E2F-responsive promoters via the recruitment of histone deacetylases and NCOR1, respectively. Ubiquitinated by RNF8 and RNF168 following DNA damage, leading to its degradation. Degradation promotes accessibility of H4K20me2 mark for DNA repair protein TP53BP1, which is then recruited. Belongs to the JHDM3 histone demethylase family. HDMs demethylate histones;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks PE1 1 +NX_O75165 DnaJ homolog subfamily C member 13 2243 254415 6.31 0 Endosome membrane;Early endosome;Early endosome membrane;Cytoplasmic vesicle;Cytosol Parkinson disease Involved in membrane trafficking through early endosomes, such as the early endosome to recycling endosome transport implicated in the recycling of transferrin and the early endosome to late endosome transport implicated in degradation of EGF and EGFR (PubMed:18256511, PubMed:18307993). Involved in the regulation of endosomal membrane tubulation and regulates th dynamics of SNX1 on the endosomal membrane; via association with WASHC2 may link the WASH complex to the retromer SNX-BAR subcomplex (PubMed:24643499). NA NA Neutrophil degranulation PE1 3 +NX_O75167 Phosphatase and actin regulator 2 634 69700 8.14 0 Membrane NA NA NA Belongs to the phosphatase and actin regulator family. Platelet degranulation PE1 6 +NX_O75170 Serine/threonine-protein phosphatase 6 regulatory subunit 2 966 104942 4.74 0 Cytoplasmic vesicle;Cytosol;Cytoplasm NA Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha. NA Belongs to the SAPS family. NA PE1 22 +NX_O75173 A disintegrin and metalloproteinase with thrombospondin motifs 4 837 90197 8.18 0 Extracellular matrix;Nucleus speckle NA Cleaves aggrecan, a cartilage proteoglycan, and may be involved in its turnover. May play an important role in the destruction of aggrecan in arthritic diseases. Could also be a critical factor in the exacerbation of neurodegeneration in Alzheimer disease. Cleaves aggrecan at the '392-Glu-|-Ala-393' site. The precursor is cleaved by a furin endopeptidase.;Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity). NA Degradation of the extracellular matrix;O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 1 +NX_O75175 CCR4-NOT transcription complex subunit 3 753 81872 5.82 0 Cytoplasm;Cytosol;P-body;Nucleus NA Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. May be involved in metabolic regulation; may be involved in recruitment of the CCR4-NOT complex to deadenylation target mRNAs involved in energy metabolism. Involved in mitotic progression and regulation of the spindle assembly checkpoint by regulating the stability of MAD1L1 mRNA. Can repress transcription and may link the CCR4-NOT complex to transcriptional regulation; the repressive function may involve histone deacetylases. Involved in the maintenance of embryonic stem (ES) cell identity. NA Belongs to the CNOT2/3/5 family. RNA degradation;Deadenylation of mRNA;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 19 +NX_O75177 Calcium-responsive transactivator 396 42990 5.96 0 Nucleus;Nucleoplasm;Cytosol;Kinetochore NA Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). NA Belongs to the SS18 family. NA PE1 20 +NX_O75179 Ankyrin repeat domain-containing protein 17 2603 274258 6.07 0 Nucleoplasm;Cytoplasm;Nucleus membrane;Nucleus NA Could play pivotal roles in cell cycle and DNA regulation (PubMed:19150984). Involved in innate immune defense against viruse by positively regulating the viral dsRNA receptors DDX58 and IFIH1 signaling pathways (PubMed:22328336). Involves in NOD2- and NOD1-mediated responses to bacteria suggesting a role in innate antibacterial immune pathways too (PubMed:23711367). Target of enterovirus 71 which is the major etiological agent of HFMD (hand, foot and mouth disease) (PubMed:17276651). Could play a central role for the formation and/or maintenance of the blood vessels of the circulation system (By similarity). Phosphorylated by CDK2. NA NA PE1 4 +NX_O75182 Paired amphipathic helix protein Sin3b 1162 133066 6.48 0 Nucleoplasm;Nucleus;Cell membrane NA Acts as a transcriptional repressor. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Interacts with MAD-MAX heterodimers by binding to MAD. The heterodimer then represses transcription by tethering SIN3B to DNA. Also forms a complex with FOXK1 which represses transcription. With FOXK1, regulates cell cycle progression probably by repressing cell cycle inhibitor genes expression. Ubiquitinated by RNF220 that leads to proteasomal degradation. NA NoRC negatively regulates rRNA expression;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 19 +NX_O75185 Calcium-transporting ATPase type 2C member 2 946 103169 5.53 10 Membrane;Focal adhesion;Cell membrane NA This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. Ion transport by P-type ATPases PE1 16 +NX_O75190 DnaJ homolog subfamily B member 6 326 36087 9.17 0 Cytoplasm;Nucleoplasm;Cytosol;Z line;Perinuclear region;Nucleus Muscular dystrophy, limb-girdle, autosomal dominant 1 Plays an indispensable role in the organization of KRT8/KRT18 filaments. Acts as an endogenous molecular chaperone for neuronal proteins including huntingtin. Suppresses aggregation and toxicity of polyglutamine-containing, aggregation-prone proteins.;But not isoform A inhibits huntingtin aggregation. Has a stimulatory effect on the ATPase activity of HSP70 in a dose-dependent and time-dependent manner and hence acts as a co-chaperone of HSP70. Also reduces cellular toxicity and caspase-3 activity. NA NA Regulation of HSF1-mediated heat shock response PE1 7 +NX_O75191 Xylulose kinase 536 58382 5.55 0 Nucleus speckle NA Phosphorylates D-xylulose to produce D-xylulose 5-phosphate, a molecule that may play an important role in the regulation of glucose metabolism and lipogenesis. NA Belongs to the FGGY kinase family. Pentose and glucuronate interconversions;Metabolic pathways;Formation of xylulose-5-phosphate PE1 3 +NX_O75192 Peroxisomal membrane protein 11A 247 28353 9.68 2 Peroxisome membrane NA May be involved in peroxisomal proliferation and may regulate peroxisomes division (PubMed:9792670). May mediate binding of coatomer proteins to the peroxisomal membrane (By similarity). Promotes membrane protrusion and elongation on the peroxisomal surface (PubMed:20826455). Seems not to be N-glycosylated. Belongs to the peroxin-11 family. Peroxisome;PPARA activates gene expression PE1 15 +NX_O75197 Low-density lipoprotein receptor-related protein 5 1615 179145 5.11 1 Membrane;Endoplasmic reticulum Van Buchem disease 2;Osteopetrosis, autosomal dominant 1;Vitreoretinopathy, exudative 1;Endosteal hyperostosis, Worth type;Osteoporosis-pseudoglioma syndrome;Polycystic liver disease 4 with or without kidney cysts;Osteoporosis;Vitreoretinopathy, exudative 4;High bone mass trait Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins (PubMed:11336703, PubMed:11448771, PubMed:15778503, PubMed:11719191, PubMed:15908424, PubMed:16252235). Activates the canonical Wnt signaling pathway that controls cell fate determination and self-renewal during embryonic development and adult tissue regeneration (PubMed:11336703, PubMed:11719191). In particular, may play an important role in the development of the posterior patterning of the epiblast during gastrulation (By similarity). During bone development, regulates osteoblast proliferation and differentiation thus determining bone mass (PubMed:11719191). Mechanistically, the formation of the signaling complex between Wnt ligand, frizzled receptor and LRP5 coreceptor promotes the recruitment of AXIN1 to LRP5, stabilizing beta-catenin/CTNNB1 and activating TCF/LEF-mediated transcriptional programs (PubMed:11336703, PubMed:25920554, PubMed:24706814, PubMed:14731402). Acts as a coreceptor for non-Wnt proteins, such as norrin/NDP. Binding of norrin/NDP to frizzled 4/FZD4-LRP5 receptor complex triggers beta-catenin/CTNNB1-dependent signaling known to be required for retinal vascular development (PubMed:27228167, PubMed:16252235). Plays a role in controlling postnatal vascular regression in retina via macrophage-induced endothelial cell apoptosis (By similarity). Phosphorylation of cytoplasmic PPPSP motifs regulates the signal transduction of the Wnt signaling pathway through acting as a docking site for AXIN1. Belongs to the LDLR family. Wnt signaling pathway;TCF dependent signaling in response to WNT;Negative regulation of TCF-dependent signaling by WNT ligand antagonists;Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling;Regulation of FZD by ubiquitination;RNF mutants show enhanced WNT signaling and proliferation;Disassembly of the destruction complex and recruitment of AXIN to the membrane PE1 11 +NX_O75200 Nuclear pore complex-interacting protein family member B7 414 47714 10.35 0 Secreted NA NA NA Belongs to the NPIP family. NA PE2 16 +NX_O75204 Transmembrane protein 127 238 25842 6.23 3 Cytoplasm;Cell membrane Pheochromocytoma Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor. NA Belongs to the TMEM127 family. NA PE1 2 +NX_O75208 Ubiquinone biosynthesis protein COQ9, mitochondrial 318 35509 5.61 0 Mitochondrion Coenzyme Q10 deficiency, primary, 5 Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Binds a phospholipid of at least 10 carbons in each acyl group. May be required to present its bound-lipid to COQ7. NA Belongs to the COQ9 family. Cofactor biosynthesis; ubiquinone biosynthesis.;Ubiquinol biosynthesis PE1 16 +NX_O75223 Gamma-glutamylcyclotransferase 188 21008 5.07 0 Cytoplasm;Cell membrane NA Catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides and may play a significant role in glutathione homeostasis. Induces release of cytochrome c from mitochondria with resultant induction of apoptosis. NA Belongs to the gamma-glutamylcyclotransferase family. Glutathione metabolism;Glutathione synthesis and recycling PE1 7 +NX_O75251 NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial 213 23564 10.02 0 Mitochondrion Mitochondrial complex I deficiency, nuclear type 3 Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Hydroxylated ar Arg-111 by NDUFAF5 early in the pathway of assembly of complex I, before the formation of the juncture between peripheral and membrane arms. Belongs to the complex I 20 kDa subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 19 +NX_O75264 Small integral membrane protein 24 130 14964 5.25 1 Membrane;Nucleoplasm;Cytosol NA NA NA NA NA PE1 19 +NX_O75290 Zinc finger protein 780A 641 74531 8.96 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_O75293 Growth arrest and DNA damage-inducible protein GADD45 beta 160 17818 4.33 0 Nucleoplasm;Cytosol NA Involved in the regulation of growth and apoptosis. Mediates activation of stress-responsive MTK1/MEKK4 MAPKKK. NA Belongs to the GADD45 family. MAPK signaling pathway;Cell cycle;p53 signaling pathway PE1 19 +NX_O75298 Reticulon-2 545 59264 5.19 2 Nucleus speckle;Endoplasmic reticulum membrane Spastic paraplegia 12, autosomal dominant NA NA NA NA PE1 19 +NX_O75306 NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial 463 52546 7.21 0 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex I deficiency, nuclear type 6 Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:12611891). Dimethylation at Arg-118 by NDUFAF7 takes place after NDUFS2 assembles into the complex I, leading to stabilize the early intermediate complex (PubMed:24089531, PubMed:24838397). Belongs to the complex I 49 kDa subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 1 +NX_O75309 Cadherin-16 829 89923 4.82 1 Cell membrane NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. NA NA NA PE1 16 +NX_O75310 UDP-glucuronosyltransferase 2B11 529 61038 9.06 1 Microsome membrane;Endoplasmic reticulum membrane NA UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. NA Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Glucuronidation PE1 4 +NX_O75311 Glycine receptor subunit alpha-3 464 53800 8.6 4 Cell membrane;Postsynaptic cell membrane;Perikaryon;Synapse;Dendrite NA Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed:9677400, PubMed:26416729). Channel characteristics depend on the subunit composition; heteropentameric channels display faster channel closure (By similarity). Plays an important role in the down-regulation of neuronal excitability (By similarity). Contributes to the generation of inhibitory postsynaptic currents (By similarity). Contributes to increased pain perception in response to increased prostaglandin E2 levels (By similarity). Plays a role in cellular responses to ethanol (By similarity). Phosphorylated by PKA; this causes down-regulation of channel activity. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA3 sub-subfamily. Neuroactive ligand-receptor interaction;Neurotransmitter receptors and postsynaptic signal transmission PE1 4 +NX_O75312 Zinc finger protein ZPR1 459 50925 4.66 0 Cajal body;Cytoplasm;Gem;Growth cone;Nucleolus;Cytoplasmic vesicle;Axon;Perinuclear region;Nucleus NA Acts as a signaling molecule that communicates proliferative growth signals from the cytoplasm to the nucleus. Plays a role for the localization and accumulation of the survival motor neuron protein SMN1 in sub-nuclear bodies, including gems and Cajal bodies. Induces neuron differentiation and stimulates axonal growth and formation of growth cone in spinal cord motor neurons. Plays a role in the splicing of cellular pre-mRNAs. May be involved in H(2)O(2)-induced neuronal cell death. NA Belongs to the ZPR1 family. NA PE1 11 +NX_O75317 Ubiquitin carboxyl-terminal hydrolase 12 370 42858 6.16 0 Nucleoplasm NA Deubiquitinating enzyme. Has almost no deubiquitinating activity by itself and requires the interaction with WDR20 and WDR48 to have a high activity (PubMed:19075014, PubMed:27373336). Not involved in deubiquitination of monoubiquitinated FANCD2 (PubMed:19075014). In complex with WDR48, acts as a potential tumor suppressor by positively regulating PHLPP1 stability (PubMed:24145035). NA Belongs to the peptidase C19 family. USP12/USP46 subfamily. Ub-specific processing proteases PE1 13 +NX_O75319 RNA/RNP complex-1-interacting phosphatase 377 43710 9.38 0 Nucleus speckle;Nucleolus;Nucleoplasm;Nucleus;Cytoskeleton NA Possesses RNA 5'-triphosphatase and diphosphatase activities, but displays a poor protein-tyrosine phosphatase activity. In addition, has phosphatase activity with ATP, ADP and O-methylfluorescein phosphate (in vitro). Binds to RNA. May participate in nuclear mRNA metabolism. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. NA PE1 2 +NX_O75323 Protein NipSnap homolog 2 286 33743 9.42 0 Mitochondrion outer membrane;Cytoplasm;Mitochondrion NA May act as a positive regulator of L-type calcium channels. NA Belongs to the NipSnap family. NA PE1 7 +NX_O75324 Stannin 88 9497 5.19 1 Mitochondrion outer membrane;Cytosol NA Plays a role in the toxic effects of organotins (PubMed:15269288). Plays a role in endosomal maturation (PubMed:27015288). NA Belongs to the stannin family. NA PE1 16 +NX_O75325 Leucine-rich repeat neuronal protein 2 713 78859 7.06 1 Membrane;Endoplasmic reticulum NA NA NA NA NA PE1 1 +NX_O75326 Semaphorin-7A 666 74824 7.57 0 Cytoplasmic vesicle;Cell membrane NA Plays an important role in integrin-mediated signaling and functions both in regulating cell migration and immune responses. Promotes formation of focal adhesion complexes, activation of the protein kinase PTK2/FAK1 and subsequent phosphorylation of MAPK1 and MAPK3. Promotes production of proinflammatory cytokines by monocytes and macrophages. Plays an important role in modulating inflammation and T-cell-mediated immune responses. Promotes axon growth in the embryonic olfactory bulb. Promotes attachment, spreading and dendrite outgrowth in melanocytes. NA Belongs to the semaphorin family. Axon guidance;Other semaphorin interactions PE1 15 +NX_O75330 Hyaluronan mediated motility receptor 724 84100 5.68 0 Cytoplasm;Cell surface;Centrosome;Cytosol;Cytoskeleton NA Receptor for hyaluronic acid (HA) (By similarity). Involved in cell motility (By similarity). When hyaluronan binds to HMMR, the phosphorylation of a number of proteins, including PTK2/FAK1 occurs. May also be involved in cellular transformation and metastasis formation, and in regulating extracellular-regulated kinase (ERK) activity. May act as a regulator of adipogenisis (By similarity). NA NA ECM-receptor interaction;Hyaluronan uptake and degradation;AURKA Activation by TPX2 PE1 5 +NX_O75333 T-box transcription factor TBX10 385 42341 9.33 0 Nucleus NA Probable transcriptional regulator involved in developmental processes. NA NA NA PE2 11 +NX_O75334 Liprin-alpha-2 1257 143291 5.8 0 Cell surface;Cytoplasm NA Alters PTPRF cellular localization and induces PTPRF clustering. May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates. NA Belongs to the liprin family. Liprin-alpha subfamily. Acetylcholine Neurotransmitter Release Cycle;Glutamate Neurotransmitter Release Cycle;Norepinephrine Neurotransmitter Release Cycle;Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle;Receptor-type tyrosine-protein phosphatases PE1 12 +NX_O75335 Liprin-alpha-4 1185 134404 6.28 0 Cell surface;Cytoplasm NA May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates (By similarity). NA Belongs to the liprin family. Liprin-alpha subfamily. Acetylcholine Neurotransmitter Release Cycle;Glutamate Neurotransmitter Release Cycle;Norepinephrine Neurotransmitter Release Cycle;Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle;Receptor-type tyrosine-protein phosphatases PE1 1 +NX_O75339 Cartilage intermediate layer protein 1 1184 132565 8.76 0 Extracellular matrix Intervertebral disc disease Probably plays a role in cartilage scaffolding. May act by antagonizing TGF-beta1 (TGFB1) and IGF1 functions. Has the ability to suppress IGF1-induced proliferation and sulfated proteoglycan synthesis, and inhibits ligand-induced IGF1R autophosphorylation. May inhibit TGFB1-mediated induction of cartilage matrix genes via its interaction with TGFB1. Overexpression may lead to impair chondrocyte growth and matrix repair and indirectly promote inorganic pyrophosphate (PPi) supersaturation in aging and osteoarthritis cartilage. Cleaved into 2 chains possibly by a furin-like protease upon or preceding secretion. NA Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) PE1 15 +NX_O75340 Programmed cell death protein 6 191 21868 5.16 0 Cytoplasm;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Endosome;Cytosol;Nucleus NA Calcium sensor that plays a key role in processes such as endoplasmic reticulum (ER)-Golgi vesicular transport, endosomal biogenesis or membrane repair. Acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium: calcium-binding triggers exposure of apolar surface, promoting interaction with different sets of proteins thanks to 3 different hydrophobic pockets, leading to translocation to membranes (PubMed:20691033, PubMed:25667979). Involved in ER-Golgi transport by promoting the association between PDCD6IP and TSG101, thereby bridging together the ESCRT-III and ESCRT-I complexes (PubMed:19520058). Together with PEF1, acts as calcium-dependent adapter for the BCR(KLHL12) complex, a complex involved in ER-Golgi transport by regulating the size of COPII coats (PubMed:27716508). In response to cytosolic calcium increase, the heterodimer formed with PEF1 interacts with, and bridges together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is required for neural crest specification (PubMed:27716508). Involved in the regulation of the distribution and function of MCOLN1 in the endosomal pathway (PubMed:19864416). Promotes localization and polymerization of TFG at endoplasmic reticulum exit site (PubMed:27813252). Required for T-cell receptor-, Fas-, and glucocorticoid-induced apoptosis (By similarity). May mediate Ca(2+)-regulated signals along the death pathway: interaction with DAPK1 can accelerate apoptotic cell death by increasing caspase-3 activity (PubMed:16132846). Its role in apoptosis may however be indirect, as suggested by knockout experiments (By similarity). May inhibit KDR/VEGFR2-dependent angiogenesis; the function involves inhibition of VEGF-induced phosphorylation of the Akt signaling pathway (PubMed:21893193). In case of infection by HIV-1 virus, indirectly inhibits HIV-1 production by affecting viral Gag expression and distribution (PubMed:27784779).;Has a lower Ca(2+) affinity than isoform 1 (By similarity). NA NA NA PE1 5 +NX_O75342 Arachidonate 12-lipoxygenase, 12R-type 701 80356 7.57 0 Cytoplasm;Cytosol Ichthyosis, congenital, autosomal recessive 2 Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Mainly converts arachidonic acid to (12R)-hydroperoxyeicosatetraenoic acid/(12R)-HPETE and minor stereoisomers. In the skin, acts upstream of ALOXE3 on the lineolate moiety of esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyceramide to membrane proteins. Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss. May also play a role in the regulation of the expression of airway mucins. NA Belongs to the lipoxygenase family. Lipid metabolism; hydroperoxy eicosatetraenoic acid biosynthesis.;Lipid metabolism; sphingolipid metabolism.;Arachidonic acid metabolism;Metabolic pathways;Synthesis of 12-eicosatetraenoic acid derivatives PE1 17 +NX_O75343 Guanylate cyclase soluble subunit beta-2 617 70368 8.84 0 Cytoplasm NA NA NA Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Smooth Muscle Contraction;Nitric oxide stimulates guanylate cyclase PE5 13 +NX_O75344 Inactive peptidyl-prolyl cis-trans isomerase FKBP6 327 37214 6.48 0 Cytosol;Nucleus;Chromosome NA Co-chaperone required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Acts as a co-chaperone via its interaction with HSP90 and is required for the piRNA amplification process, the secondary piRNA biogenesis. May be required together with HSP90 in removal of 16 nucleotide ping-pong by-products from Piwi complexes, possibly facilitating turnover of Piwi complexes (By similarity). NA Belongs to the FKBP6 family. PIWI-interacting RNA (piRNA) biogenesis;Meiotic synapsis PE1 7 +NX_O75346 Zinc finger protein 253 499 57602 9.32 0 Nucleus NA May function as a transcription factor. Seem to have a transcriptional repression activity. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_O75347 Tubulin-specific chaperone A 108 12855 5.25 0 Cytoplasm;Nucleolus;Cytoskeleton NA Tubulin-folding protein; involved in the early step of the tubulin folding pathway. NA Belongs to the TBCA family. Post-chaperonin tubulin folding pathway PE1 5 +NX_O75348 V-type proton ATPase subunit G 1 118 13758 8.93 0 Nucleoplasm;Nucleolus NA Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633). NA Belongs to the V-ATPase G subunit family. Oxidative phosphorylation;Metabolic pathways;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE1 9 +NX_O75351 Vacuolar protein sorting-associated protein 4B 444 49302 6.75 0 Cytoplasmic vesicle;Cytoskeleton;Late endosome membrane;Prevacuolar compartment membrane NA Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). VPS4A/B are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). NA Belongs to the AAA ATPase family. Endocytosis;Budding and maturation of HIV virion;Endosomal Sorting Complex Required For Transport (ESCRT) PE1 18 +NX_O75352 Mannose-P-dolichol utilization defect 1 protein 247 26638 9.13 7 Membrane;Endoplasmic reticulum;Mitochondrion Congenital disorder of glycosylation 1F Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors. NA Belongs to the MPDU1 (TC 2.A.43.3) family. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein;Defective MPDU1 causes MPDU1-CDG (CDG-1f) PE1 17 +NX_O75354 Ectonucleoside triphosphate diphosphohydrolase 6 484 53246 9.32 1 Golgi apparatus;Secreted;Golgi apparatus membrane NA Might support glycosylation reactions in the Golgi apparatus and, when released from cells, might catalyze the hydrolysis of extracellular nucleotides. Hydrolyzes preferentially nucleoside 5'-diphosphates, nucleoside 5'-triphosphates are hydrolyzed only to a minor extent, there is no hydrolysis of nucleoside 5'-monophosphates. The order of activity with different substrates is GDP > IDP >> UDP = CDP >> ADP (By similarity). NA Belongs to the GDA1/CD39 NTPase family. Purine metabolism;Pyrimidine metabolism;Phosphate bond hydrolysis by NTPDase proteins PE1 20 +NX_O75355 Ectonucleoside triphosphate diphosphohydrolase 3 529 59105 5.98 2 Membrane NA Has a threefold preference for the hydrolysis of ATP over ADP. NA Belongs to the GDA1/CD39 NTPase family. Purine metabolism;Pyrimidine metabolism;Phosphate bond hydrolysis by NTPDase proteins PE1 3 +NX_O75356 Ectonucleoside triphosphate diphosphohydrolase 5 428 47517 5.92 0 Endoplasmic reticulum;Cytosol;Secreted NA Uridine diphosphatase (UDPase) that promotes protein N-glycosylation and ATP level regulation. UDP hydrolysis promotes protein N-glycosylation and folding in the endoplasmic reticulum, as well as elevated ATP consumption in the cytosol via an ATP hydrolysis cycle. Together with CMPK1 and AK1, constitutes an ATP hydrolysis cycle that converts ATP to AMP and results in a compensatory increase in aerobic glycolysis. The nucleotide hydrolyzing preference is GDP > IDP > UDP, but not any other nucleoside di-, mono- or triphosphates, nor thiamine pyrophosphate. Plays a key role in the AKT1-PTEN signaling pathway by promoting glycolysis in proliferating cells in response to phosphoinositide 3-kinase (PI3K) signaling. N-glycosylated; high-mannose type (By similarity). Glycosylation is not essential for enzymatic activity. Belongs to the GDA1/CD39 NTPase family. Protein modification; protein glycosylation.;Purine metabolism;Pyrimidine metabolism;Phosphate bond hydrolysis by NTPDase proteins PE1 14 +NX_O75360 Homeobox protein prophet of Pit-1 226 24984 10.36 0 Nucleus Pituitary hormone deficiency, combined, 2 Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes. NA Belongs to the paired homeobox family. NA PE1 5 +NX_O75362 Zinc finger protein 217 1048 115272 8.78 0 Nucleus speckle;Nucleus NA Binds to the promoters of target genes and functions as repressor. Promotes cell proliferation and antagonizes cell death. Promotes phosphorylation of AKT1 at 'Ser-473'. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Estrogen-dependent gene expression PE1 20 +NX_O75363 Breast carcinoma-amplified sequence 1 584 61709 4.99 0 Cytoplasm;Cytoplasmic vesicle NA Required for myelination. NA NA NA PE1 20 +NX_O75364 Pituitary homeobox 3 302 31832 9.28 0 Nucleus Cataract 11, multiple types;Anterior segment dysgenesis 1 Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates NR4A2/NURR1-mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor NCOR2/SMRT which acts through histone deacetylases (HDACs) to keep promoters of NR4A2/NURR1 target genes in a repressed deacetylated state. Essential for the normal lens development and differentiation. Plays a critical role in the maintenance of mitotic activity of lens epithelial cells, fiber cell differentiation and in the control of the temporal and spatial activation of fiber cell-specific crystallins. Positively regulates FOXE3 expression and negatively regulates PROX1 in the anterior lens epithelium, preventing activation of CDKN1B/P27Kip1 and CDKN1C/P57Kip2 and thus maintains lens epithelial cells in cell cycle (By similarity). NA Belongs to the paired homeobox family. Bicoid subfamily. NA PE1 10 +NX_O75365 Protein tyrosine phosphatase type IVA 3 173 19535 9.35 0 Early endosome;Cell membrane NA Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. Enhances cell proliferation, cell motility and invasive activity, and promotes cancer metastasis. May be involved in the progression of cardiac hypertrophy by inhibiting intracellular calcium mobilization in response to angiotensin II. Farnesylated. Farnesylation is required for membrane targeting (By similarity). Belongs to the protein-tyrosine phosphatase family. NA PE1 8 +NX_O75366 Advillin 819 92027 5.47 0 Axon;Cell projection;Cytoskeleton NA Ca(2+)-regulated actin-binding protein. May have a unique function in the morphogenesis of neuronal cells which form ganglia. Required for SREC1-mediated regulation of neurite-like outgrowth. Plays a role in regenerative sensory axon outgrowth and remodeling processes after peripheral injury in neonates. Involved in the formation of long fine actin-containing filopodia-like structures in fibroblast. Plays a role in ciliogenesis. NA Belongs to the villin/gelsolin family. NA PE1 12 +NX_O75367 Core histone macro-H2A.1 372 39617 9.8 0 Nucleoplasm;Nucleus;Chromosome NA Binds ADP-ribose and O-acetyl-ADP-ribose, and may be involved in ADP-ribose-mediated chromatin modulation (PubMed:15902274). Increases the expression of genes involved in redox metabolism, including SOD3 (PubMed:23022728).;Represses SOD3 gene expression.;Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription (PubMed:12718888, PubMed:15621527, PubMed:16428466). Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Involved in stable X chromosome inactivation (PubMed:15897469). Inhibits the binding of transcription factors, including NF-kappa-B, and interferes with the activity of remodeling SWI/SNF complexes (PubMed:12718888, PubMed:16428466). Inhibits histone acetylation by EP300 and recruits class I HDACs, which induces a hypoacetylated state of chromatin (PubMed:16428466, PubMed:16107708). Monoubiquitinated at either Lys-116 or Lys-117. May also be polyubiquitinated. Ubiquitination is mediated by the CUL3/SPOP E3 complex and does not promote proteasomal degradation. Instead, it is required for enrichment in inactive X chromosome chromatin. NA Systemic lupus erythematosus PE1 5 +NX_O75368 SH3 domain-binding glutamic acid-rich-like protein 114 12774 5.22 0 Cytoplasmic vesicle NA NA NA Belongs to the SH3BGR family. NA PE1 X +NX_O75369 Filamin-B 2602 278164 5.47 0 Golgi apparatus;Cell cortex;Cell membrane;Stress fiber;Cytosol;Z line;Cytoskeleton Atelosteogenesis 3;Atelosteogenesis 1;Boomerang dysplasia;Larsen syndrome;Spondylocarpotarsal synostosis syndrome Accelerates muscle differentiation in vitro.;Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Ubiquitination by a SCF-like complex containing ASB2 isoform 2 leads to proteasomal degradation which promotes muscle differentiation.;ISGylation prevents ability to interact with the upstream activators of the JNK cascade and inhibits IFNA-induced JNK signaling. Belongs to the filamin family. MAPK signaling pathway;Focal adhesion;Salmonella infection;ISG15 antiviral mechanism PE1 3 +NX_O75373 Zinc finger protein 737 536 61931 9.41 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_O75376 Nuclear receptor corepressor 1 2440 270210 6.66 0 Nucleus NA Mediates transcriptional repression by certain nuclear receptors (PubMed:20812024). Part of a complex which promotes histone deacetylation and the formation of repressive chromatin structures which may impede the access of basal transcription factors. Participates in the transcriptional repressor activity produced by BCL6. Recruited by ZBTB7A to the androgen response elements/ARE on target genes, negatively regulates androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Mediates the NR1D1-dependent repression and circadian regulation of TSHB expression (By similarity). The NCOR1-HDAC3 complex regulates the circadian expression of the core clock gene ARTNL/BMAL1 and the genes involved in lipid metabolism in the liver (By similarity). Ubiquitinated; mediated by SIAH2 and leading to its subsequent proteasomal degradation.;NCOR1 is phosphorylated by MAPK3 Belongs to the N-CoR nuclear receptor corepressors family. PPARA activates gene expression;Downregulation of SMAD2/3:SMAD4 transcriptional activity;HDACs deacetylate histones;Notch-HLH transcription pathway;Circadian Clock;Nuclear signaling by ERBB4;Transcriptional activation of mitochondrial biogenesis;Nuclear Receptor transcription pathway;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Transcriptional regulation of white adipocyte differentiation;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);NR1D1 (REV-ERBA) represses gene expression;Activation of anterior HOX genes in hindbrain development during early embryogenesis;Regulation of MECP2 expression and activity;Loss of MECP2 binding ability to the NCoR/SMRT complex PE1 17 +NX_O75379 Vesicle-associated membrane protein 4 141 16397 6.75 1 Golgi apparatus;trans-Golgi network membrane NA Involved in the pathway that functions to remove an inhibitor (probably synaptotagmin-4) of calcium-triggered exocytosis during the maturation of secretory granules. May be a marker for this sorting pathway that is critical for remodeling the secretory response of granule. NA Belongs to the synaptobrevin family. SNARE interactions in vesicular transport;Retrograde transport at the Trans-Golgi-Network;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 1 +NX_O75380 NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial 124 13712 8.58 0 Mitochondrion inner membrane Mitochondrial complex I deficiency, nuclear type 9 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFS6 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 5 +NX_O75381 Peroxisomal membrane protein PEX14 377 41237 4.89 0 Peroxisome;Peroxisome membrane;Nucleolus Peroxisome biogenesis disorder complementation group K;Peroxisome biogenesis disorder 13A Peroxisome membrane protein that is an essential component of the peroxisomal import machinery. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PEX5). Plays a key role for peroxisome movement through a direct interaction with tubulin. NA Belongs to the peroxin-14 family. Peroxisome;E3 ubiquitin ligases ubiquitinate target proteins;Peroxisomal protein import;Class I peroxisomal membrane protein import PE1 1 +NX_O75382 Tripartite motif-containing protein 3 744 80830 8.03 0 trans-Golgi network;Cytoplasm;Mitochondrion;Early endosome;Dendrite NA Probably involved in vesicular trafficking via its association with the CART complex (PubMed:15772161). The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation (PubMed:15772161). Positively regulates motility of microtubule-dependent motor protein KIF21B (By similarity). NA Belongs to the TRIM/RBCC family. Interferon gamma signaling PE1 11 +NX_O75385 Serine/threonine-protein kinase ULK1 1050 112631 9.03 0 Preautophagosomal structure;Cytosol NA Serine/threonine-protein kinase involved in autophagy in response to starvation. Acts upstream of phosphatidylinositol 3-kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes. Part of regulatory feedback loops in autophagy: acts both as a downstream effector and negative regulator of mammalian target of rapamycin complex 1 (mTORC1) via interaction with RPTOR. Activated via phosphorylation by AMPK and also acts as a regulator of AMPK by mediating phosphorylation of AMPK subunits PRKAA1, PRKAB2 and PRKAG1, leading to negatively regulate AMPK activity. May phosphorylate ATG13/KIAA0652 and RPTOR; however such data need additional evidences. Plays a role early in neuronal differentiation and is required for granule cell axon formation. May also phosphorylate SESN2 and SQSTM1 to regulate autophagy (PubMed:25040165). Acetylated by KAT5/TIP60 under autophagy induction, promoting protein kinase activity.;Autophosphorylated. Phosphorylated under nutrient-rich conditions; dephosphorylated during starvation or following treatment with rapamycin. Under nutrient sufficiency, phosphorylated by MTOR/mTOR, disrupting the interaction with AMPK and preventing activation of ULK1 (By similarity). In response to nutrient limitation, phosphorylated and activated by AMPK, leading to activate autophagy. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. APG1/unc-51/ULK1 subfamily. Regulation of autophagy;mTOR signaling pathway;Macroautophagy;RAB GEFs exchange GTP for GDP on RABs;TBC/RABGAPs;Receptor Mediated Mitophagy PE1 12 +NX_O75386 Tubby-related protein 3 442 49642 7.63 0 Cytoplasm;Cell membrane;Secreted;Cilium;Nucleolus;Nucleoplasm;Nucleus NA Negative regulator of the Shh signaling transduction pathway: recruited to primary cilia via association with the IFT complex A (IFT-A) and is required for recruitment of G protein-coupled receptor GPR161 to cilia, a promoter of PKA-dependent basal repression machinery in Shh signaling. Binds to phosphorylated inositide (phosphoinositide) lipids. Both IFT-A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking. Not involved in ciliogenesis. NA Belongs to the TUB family. Hedgehog 'off' state PE1 12 +NX_O75387 Large neutral amino acids transporter small subunit 3 559 61477 7.85 12 Membrane;Golgi apparatus;Cytoplasmic vesicle;Cell membrane NA Sodium-independent, high affinity transport of large neutral amino acids. Has narrower substrate selectivity compared to SLC7A5 and SLC7A8 and mainly transports branched-chain amino acids and phenylalanine. Plays a role in the development of human prostate cancer, from prostatic intraepithelial neoplasia to invasive prostate cancer. NA Belongs to the SLC43A transporter (TC 2.A.1.44) family. Amino acid transport across the plasma membrane PE1 11 +NX_O75388 Probable G-protein coupled receptor 32 356 40087 9.35 7 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. G alpha (s) signalling events PE2 19 +NX_O75390 Citrate synthase, mitochondrial 466 51712 8.45 0 Mitochondrion matrix;Mitochondrion NA NA Methylated (PubMed:28391595, PubMed:28887308). Trimethylation at Lys-395 by CSKMT decreases citrate synthase activity (PubMed:28887308). Belongs to the citrate synthase family. Carbohydrate metabolism; tricarboxylic acid cycle; isocitrate from oxaloacetate: step 1/2.;Citrate cycle (TCA cycle);Glyoxylate and dicarboxylate metabolism;Metabolic pathways;Mitochondrial protein import;Citric acid cycle (TCA cycle) PE1 12 +NX_O75391 Sperm-associated antigen 7 227 26034 7.69 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 17 +NX_O75394 39S ribosomal protein L33, mitochondrial 65 7619 10.81 0 Mitochondrion NA NA NA Belongs to the bacterial ribosomal protein bL33 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 2 +NX_O75396 Vesicle-trafficking protein SEC22b 215 24593 6.43 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;cis-Golgi network membrane;Melanosome NA SNARE involved in targeting and fusion of ER-derived transport vesicles with the Golgi complex as well as Golgi-derived retrograde transport vesicles with the ER. NA Belongs to the synaptobrevin family. SNARE interactions in vesicular transport;Phagosome;Legionellosis;ER-Phagosome pathway;COPII-mediated vesicle transport;Cargo concentration in the ER;COPI-dependent Golgi-to-ER retrograde traffic PE1 1 +NX_O75398 Deformed epidermal autoregulatory factor 1 homolog 565 59327 5.21 0 Cytoplasm;Secreted;Nucleolus;Nucleoplasm;Nucleus Mental retardation, autosomal dominant 24;Dyskinesia, seizures, and intellectual developmental disorder Displays greater transcriptional activity than isoform 4.;May inhibit transcriptional activity of isoform 1 by interacting with isoform 1 and retaining it in the cytoplasm. Transcriptional activator of EIF4G3.;Transcription factor that binds to sequence with multiple copies of 5'-TTC[CG]G-3' present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5'-AGGGTTCACCGAAAGTTCA-3'. Activates the proenkephalin gene independently of promoter binding, probably through protein-protein interaction. When secreted, behaves as an inhibitor of cell proliferation, by arresting cells in the G0 or G1 phase. Required for neural tube closure and skeletal patterning. Regulates epithelial cell proliferation and side-branching in the mammary gland. Controls the expression of peripheral tissue antigens in pancreatic lymph nodes. May be phosphorylated by DNA-PK complex in a DNA independent manner (in vitro).;DEAF1 is phosphorylated by GSK3A NA NA PE1 11 +NX_O75400 Pre-mRNA-processing factor 40 homolog A 957 108805 7.18 0 Nucleus matrix;Nucleus speckle;Nucleus NA Binds to WASL/N-WASP and suppresses its translocation from the nucleus to the cytoplasm, thereby inhibiting its cytoplasmic function (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. May play a role in cytokinesis. May be involved in pre-mRNA splicing. NA Belongs to the PRPF40 family. mRNA Splicing - Major Pathway PE1 2 +NX_O75409 Huntingtin-interacting protein M 117 13442 4.93 0 NA NA NA NA NA NA PE1 X +NX_O75410 Transforming acidic coiled-coil-containing protein 1 805 87794 4.82 0 Cytoplasm;Membrane;Midbody;Centrosome;Cytosol;Nucleus NA Involved in transcription regulation induced by nuclear receptors, including in T3 thyroid hormone and all-trans retinoic acid pathways (PubMed:20078863). Might promote the nuclear localization of the receptors (PubMed:20078863). Likely involved in the processes that promote cell division prior to the formation of differentiated tissues. Is heavily phosphorylated; isoform 6 is not. Belongs to the TACC family. NA PE1 8 +NX_O75414 Nucleoside diphosphate kinase 6 186 21142 8.51 0 Cytoplasmic vesicle NA Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Inhibitor of p53-induced apoptosis. NA Belongs to the NDK family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways PE1 3 +NX_O75417 DNA polymerase theta 2590 289619 7.07 0 Golgi apparatus;Chromosome;Nucleoplasm;Cytosol;Nucleus Breast cancer DNA polymerase that promotes microhomology-mediated end-joining (MMEJ), an alternative non-homologous end-joining (NHEJ) machinery triggered in response to double-strand breaks in DNA (PubMed:25642963, PubMed:25643323). MMEJ is an error-prone repair pathway that produces deletions of sequences from the strand being repaired and promotes genomic rearrangements, such as telomere fusions, some of them leading to cellular transformation (PubMed:25642963, PubMed:25643323). POLQ acts as an inhibitor of homology-recombination repair (HR) pathway by limiting RAD51 accumulation at resected ends (PubMed:25642963). POLQ-mediated MMEJ may be required to promote the survival of cells with a compromised HR repair pathway, thereby preventing genomic havoc by resolving unrepaired lesions (By similarity). The polymerase acts by binding directly the 2 ends of resected double-strand breaks, allowing microhomologous sequences in the overhangs to form base pairs. It then extends each strand from the base-paired region using the opposing overhang as a template. Requires partially resected DNA containing 2 to 6 base pairs of microhomology to perform MMEJ (PubMed:25643323). The polymerase activity is highly promiscuous: unlike most polymerases, promotes extension of ssDNA and partial ssDNA (pssDNA) substrates (PubMed:18503084, PubMed:21050863, PubMed:22135286). Also exhibits low-fidelity DNA synthesis, translesion synthesis and lyase activity, and it is implicated in interstrand-cross-link repair, base excision repair and DNA end-joining (PubMed:14576298, PubMed:18503084, PubMed:19188258, PubMed:24648516). Involved in somatic hypermutation of immunoglobulin genes, a process that requires the activity of DNA polymerases to ultimately introduce mutations at both A/T and C/G base pairs (By similarity). NA Belongs to the DNA polymerase type-A family. HDR through MMEJ (alt-NHEJ) PE1 3 +NX_O75419 Cell division control protein 45 homolog 566 65569 5.31 0 Cytoplasm;Nucleoplasm;Centrosome;Cytosol;Nucleus Meier-Gorlin syndrome 7 Required for initiation of chromosomal DNA replication. NA Belongs to the CDC45 family. Cell cycle;Activation of ATR in response to replication stress;Activation of the pre-replicative complex;G1/S-Specific Transcription;Unwinding of DNA PE1 22 +NX_O75420 GRB10-interacting GYF protein 1 1035 114601 5.29 0 Cytoplasmic vesicle;Cytoskeleton NA May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling. May increase IGF1 receptor phosphorylation under IGF1 stimulation as well as phosphorylation of IRS1 and SHC1 (By similarity). NA Belongs to the GIGYF family. NA PE1 7 +NX_O75425 Motile sperm domain-containing protein 3 235 25519 9.29 2 Membrane;Nucleoplasm;Cytosol NA NA NA NA NA PE1 7 +NX_O75426 F-box only protein 24 580 64889 9.01 0 NA NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA NA NA PE1 7 +NX_O75427 Leucine-rich repeat and calponin homology domain-containing protein 4 683 73450 8.55 0 Nucleoplasm;Cytosol;Focal adhesion NA NA NA NA NA PE1 7 +NX_O75431 Metaxin-2 263 29763 5.9 0 Mitochondrion outer membrane;Mitochondrion;Nucleolus NA Involved in transport of proteins into the mitochondrion. NA Belongs to the metaxin family. Mitochondrial protein import;Cristae formation PE1 2 +NX_O75436 Vacuolar protein sorting-associated protein 26A 327 38170 6.13 0 Golgi apparatus;Cytoplasm;Endosome membrane;Cell membrane;Early endosome;Endosome;Lysosome NA Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins (Probable). The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5 (Probable). Required for retrograde transport of lysosomal enzyme receptor IGF2R (PubMed:15078902, PubMed:15078903). Required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA) (PubMed:15247922). Required for the endosomal localization of WASHC2A (indicative for the WASH complex) (PubMed:22070227). Required for the endosomal localization of TBC1D5 (PubMed:20923837). Mediates retromer cargo recognition of SORL1 and is involved in trafficking of SORL1 implicated in sorting and processing of APP (PubMed:22279231). Involved in retromer-independent lysosomal sorting of F2R (PubMed:16407403). Involved in recycling of ADRB2 (PubMed:21602791). Enhances the affinity of SNX27 for PDZ-binding motifs in cargo proteins (By similarity). NA Belongs to the VPS26 family. WNT ligand biogenesis and trafficking PE1 10 +NX_O75437 Zinc finger protein 254 659 77160 9.4 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_O75438 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1 58 6961 9.03 1 Cytoplasm;Mitochondrion inner membrane;Nucleus speckle;Mitochondrion NA Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFB1 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 14 +NX_O75439 Mitochondrial-processing peptidase subunit beta 489 54366 6.38 0 Mitochondrion matrix;Mitochondrion Multiple mitochondrial dysfunctions syndrome 6 Catalytic subunit of the essential mitochondrial processing protease (MPP), which is required for maturation of the majority of mitochondrial precursor proteins (PubMed:29576218). Most MPP cleavage sites follow an arginine at position -2 (By similarity). NA Belongs to the peptidase M16 family. Mitochondrial protein import;Processing of SMDT1 PE1 7 +NX_O75443 Alpha-tectorin 2155 239527 5.23 0 Extracellular matrix;Cell membrane Deafness, autosomal recessive, 21;Deafness, autosomal dominant, 12 One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. The presence of a hydrophobic C-terminus preceded by a potential cleavage site strongly suggests that tectorins are synthesized as glycosylphosphatidylinositol-linked, membrane-bound precursors. Tectorins are targeted to the apical surface of the inner ear epithelia by the lipid and proteolytically released into the extracellular compartment. NA Post-translational modification: synthesis of GPI-anchored proteins PE1 11 +NX_O75444 Transcription factor Maf 373 38492 6.44 0 Nucleus Cataract 21, multiple types;Ayme-Gripp syndrome Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Activates transcription of the CD13 proximal promoter in endothelial cells. Represses transcription of the CD13 promoter in early stages of myelopoiesis by affecting the ETS1 and MYB cooperative interaction. Involved in the initial chondrocyte terminal differentiation and the disappearance of hypertrophic chondrocytes during endochondral bone development. Binds to the sequence 5'-[GT]G[GC]N[GT]NCTCAGNN-3' in the L7 promoter. Binds to the T-MARE (Maf response element) sites of lens-specific alpha- and beta-crystallin gene promoters. Binds element G1 on the glucagon promoter. Binds an AT-rich region adjacent to the TGC motif (atypical Maf response element) in the CD13 proximal promoter in endothelial cells (By similarity). When overexpressed, represses anti-oxidant response element (ARE)-mediated transcription. Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Binds to the ARE sites of detoxifying enzyme gene promoters. Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is triggered by glucocorticoids.;Phosphorylated by GSK3 and MAPK13 on serine and threonine residues (Probable). The phosphorylation status can serve to either stimulate or inhibit transcription. Belongs to the bZIP family. Maf subfamily. RUNX2 regulates osteoblast differentiation PE1 16 +NX_O75445 Usherin 5202 575600 6.4 1 Stereocilium membrane;Secreted Retinitis pigmentosa 39;Usher syndrome 2A Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. NA NA NA PE1 1 +NX_O75446 Histone deacetylase complex subunit SAP30 220 23306 9.28 0 Nucleoplasm;Nucleus NA Involved in the functional recruitment of the Sin3-histone deacetylase complex (HDAC) to a specific subset of N-CoR corepressor complexes. Capable of transcription repression by N-CoR. Active in deacetylating core histone octamers (when in a complex) but inactive in deacetylating nucleosomal histones. NA Belongs to the SAP30 family. NoRC negatively regulates rRNA expression;HDACs deacetylate histones PE1 4 +NX_O75448 Mediator of RNA polymerase II transcription subunit 24 989 110305 6.51 0 Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 24 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 17 +NX_O75449 Katanin p60 ATPase-containing subunit A1 491 55965 6.47 0 Cytoplasm;Cell membrane;Centriolar satellite;Nucleoplasm;Spindle pole;Centrosome;Spindle;Midbody NA Catalytic subunit of a complex which severs microtubules in an ATP-dependent manner. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Microtubule release within the cell body of neurons may be required for their transport into neuronal processes by microtubule-dependent motor proteins. This transport is required for axonal growth. Phosphorylation by DYRK2 triggers ubiquitination and subsequent degradation.;Ubiquitinated by the BCR(KLHL42) E3 ubiquitin ligase complex, leading to its proteasomal degradation. Ubiquitinated by the EDVP E3 ligase complex and subsequently targeted for proteasomal degradation. Belongs to the AAA ATPase family. Katanin p60 subunit A1 subfamily. NA PE1 6 +NX_O75452 Retinol dehydrogenase 16 317 35673 8.83 1 Microsome membrane;Endoplasmic reticulum membrane NA Oxidoreductase with a preference for NAD. Oxidizes all-trans-retinol, 9-cis-retinol, 11-cis-retinol and 13-cis-retinol to the corresponding aldehydes (PubMed:10329026, PubMed:12534290, PubMed:9677409). Has higher activity towards CRBP-bound retinol than with free retinol (PubMed:12534290). Oxidizes also 3-alpha-hydroxysteroids. Oxidizes androstanediol and androsterone to dihydrotestosterone and androstanedione. Can also catalyze the reverse reaction (PubMed:10329026, PubMed:9677409, PubMed:29541409). Not N-glycosylated. Belongs to the short-chain dehydrogenases/reductases (SDR) family. Cofactor metabolism; retinol metabolism.;Retinol metabolism;Metabolic pathways;The canonical retinoid cycle in rods (twilight vision);RA biosynthesis pathway PE1 12 +NX_O75459 P antigen family member 1 146 16150 4.15 0 Nucleoplasm;Mitochondrion;Nucleolus NA NA NA Belongs to the GAGE family. NA PE1 X +NX_O75460 Serine/threonine-protein kinase/endoribonuclease IRE1 977 109735 5.98 1 Endoplasmic reticulum membrane NA Serine/threonine-protein kinase and endoribonuclease that acts as a key sensor for the endoplasmic reticulum unfolded protein response (UPR) (PubMed:11779464, PubMed:11175748, PubMed:12637535, PubMed:9637683, PubMed:21317875). In unstressed cells, the endoplasmic reticulum luminal domain is maintained in its inactive monomeric state by binding to the endoplasmic reticulum chaperone HSPA5/BiP (PubMed:21317875). Accumulation of misfolded protein in the endoplasmic reticulum causes release of HSPA5/BiP, allowing the luminal domain to homodimerize, promoting autophosphorylation of the kinase domain and subsequent activation of the endoribonuclease activity (PubMed:21317875). The endoribonuclease activity is specific for XBP1 mRNA and excises 26 nucleotides from XBP1 mRNA (PubMed:11779464, PubMed:24508390, PubMed:21317875). The resulting spliced transcript of XBP1 encodes a transcriptional activator protein that up-regulates expression of UPR target genes (PubMed:11779464, PubMed:24508390, PubMed:21317875). Acts as an upstream signal for ER stress-induced GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of CFTR to cell membrane by modulating the expression and localization of SEC16A (PubMed:21884936, PubMed:28067262). ADP-ribosylated by PARP16 upon ER stress, which increases both kinase and endonuclease activities.;Autophosphorylated following homodimerization. Autophosphorylation promotes activation of the endoribonuclease domain. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Protein processing in endoplasmic reticulum;Alzheimer's disease;IRE1alpha activates chaperones PE1 17 +NX_O75461 Transcription factor E2F6 281 31844 5.35 0 Nucleoplasm;Nucleus NA Inhibitor of E2F-dependent transcription. Binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3'. Has a preference for the 5'-TTTCCCGC-3' E2F recognition site. E2F6 lacks the transcriptional activation and pocket protein binding domains. Appears to regulate a subset of E2F-dependent genes whose products are required for entry into the cell cycle but not for normal cell cycle progression. May silence expression via the recruitment of a chromatin remodeling complex containing histone H3-K9 methyltransferase activity. Overexpression delays the exit of cells from the S-phase. NA Belongs to the E2F/DP family. G1/S-Specific Transcription;Transcriptional Regulation by E2F6 PE1 2 +NX_O75462 Cytokine receptor-like factor 1 422 46302 9.3 0 Secreted Crisponi/Cold-induced sweating syndrome 1 In complex with CLCF1, forms a heterodimeric neurotropic cytokine that plays a crucial role during neuronal development (Probable). May also play a regulatory role in the immune system. NA Belongs to the type I cytokine receptor family. Type 3 subfamily. IL-6-type cytokine receptor ligand interactions;Interleukin-27 signaling PE1 19 +NX_O75467 Zinc finger protein 324A 553 61104 9.69 0 Nucleoplasm;Cytosol;Nucleus membrane;Nucleus NA May be involved in transcriptional regulation. May be involved in regulation of cell proliferation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_O75469 Nuclear receptor subfamily 1 group I member 2 434 49762 8.7 0 Nucleoplasm;Nucleus NA Nuclear receptor that binds and is activated by variety of endogenous and xenobiotic compounds. Transcription factor that activates the transcription of multiple genes involved in the metabolism and secretion of potentially harmful xenobiotics, drugs and endogenous compounds. Activated by the antibiotic rifampicin and various plant metabolites, such as hyperforin, guggulipid, colupulone, and isoflavones. Response to specific ligands is species-specific. Activated by naturally occurring steroids, such as pregnenolone and progesterone. Binds to a response element in the promoters of the CYP3A4 and ABCB1/MDR1 genes. NA Belongs to the nuclear hormone receptor family. NR1 subfamily. Nuclear Receptor transcription pathway;SUMOylation of intracellular receptors PE1 3 +NX_O75473 Leucine-rich repeat-containing G-protein coupled receptor 5 907 99998 6.12 7 trans-Golgi network membrane;Cell membrane NA Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and acts as a stem cell marker of the intestinal epithelium and the hair follicle. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the signal. Involved in the development and/or maintenance of the adult intestinal stem cells during postembryonic development. NA Belongs to the G-protein coupled receptor 1 family. Regulation of FZD by ubiquitination PE1 12 +NX_O75474 GSK-3-binding protein FRAT2 233 24051 5.4 0 Nucleoplasm;Mitochondrion NA Positively regulates the Wnt signaling pathway by stabilizing beta-catenin through the association with GSK-3. NA Belongs to the GSK-3-binding protein family. Wnt signaling pathway;Disassembly of the destruction complex and recruitment of AXIN to the membrane;Beta-catenin phosphorylation cascade PE1 10 +NX_O75475 PC4 and SFRS1-interacting protein 530 60103 9.15 0 Nucleoplasm;Nucleus NA Transcriptional coactivator involved in neuroepithelial stem cell differentiation and neurogenesis. Involved in particular in lens epithelial cell gene regulation and stress responses. May play an important role in lens epithelial to fiber cell terminal differentiation. May play a protective role during stress-induced apoptosis.;May also act as an adapter to coordinate pre-mRNA splicing. Cellular cofactor for lentiviral integration.;Is a more general and stronger transcriptional coactivator. Citrullinated by PADI4. Belongs to the HDGF family. Vpr-mediated nuclear import of PICs;Integration of provirus;2-LTR circle formation;Integration of viral DNA into host genomic DNA;Autointegration results in viral DNA circles;APOBEC3G mediated resistance to HIV-1 infection PE1 9 +NX_O75477 Erlin-1 348 39171 7.67 1 Endoplasmic reticulum;Endoplasmic reticulum membrane Spastic paraplegia 62, autosomal recessive Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. Binds cholesterol and may promote ER retention of the SCAP-SREBF complex (PubMed:24217618). NA Belongs to the band 7/mec-2 family. ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis PE1 10 +NX_O75478 Transcriptional adapter 2-alpha 443 51506 6.45 0 Nucleus speckle;Nucleus;Chromosome NA Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. Required for the function of some acidic activation domains, which activate transcription from a distant site (By similarity). Binds double-stranded DNA. Binds dinucleosomes, probably at the linker region between neighboring nucleosomes. Plays a role in chromatin remodeling. May promote TP53/p53 'Lys-321' acetylation, leading to reduced TP53 stability and transcriptional activity (PubMed:22644376). May also promote XRCC6 acetylation thus facilitating cell apoptosis in response to DNA damage (PubMed:22644376). NA NA HATs acetylate histones PE1 17 +NX_O75486 Transcription initiation protein SPT3 homolog 317 35793 6.41 0 Nucleoplasm;Nucleus NA Probable transcriptional activator. NA Belongs to the SPT3 family. HATs acetylate histones PE1 6 +NX_O75487 Glypican-4 556 62412 6.26 0 Nucleoplasm;Extracellular space;Cell membrane NA Cell surface proteoglycan that bears heparan sulfate. May be involved in the development of kidney tubules and of the central nervous system (By similarity). NA Belongs to the glypican family. Retinoid metabolism and transport;HS-GAG biosynthesis;A tetrasaccharide linker sequence is required for GAG synthesis;HS-GAG degradation;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;Defective EXT2 causes exostoses 2;Defective EXT1 causes exostoses 1, TRPS2 and CHDS;Defective B3GALT6 causes EDSP2 and SEMDJL1 PE1 X +NX_O75489 NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial 264 30242 6.98 0 Mitochondrion inner membrane;Mitochondrion;Nucleus Mitochondrial complex I deficiency, nuclear type 8 Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). NA Belongs to the complex I 30 kDa subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 11 +NX_O75493 Carbonic anhydrase-related protein 11 328 36238 9.78 0 Cytoplasmic vesicle;Secreted;Cytoskeleton NA Does not have a catalytic activity. NA Belongs to the alpha-carbonic anhydrase family. NA PE1 19 +NX_O75494 Serine/arginine-rich splicing factor 10 262 31301 11.26 0 Cytoplasm;Nucleoplasm;Nucleus speckle NA Splicing factor that in its dephosphorylated form acts as a general repressor of pre-mRNA splicing (PubMed:11684676, PubMed:12419250, PubMed:14765198). Seems to interfere with the U1 snRNP 5'-splice recognition of SNRNP70 (PubMed:14765198). Required for splicing repression in M-phase cells and after heat shock (PubMed:14765198). Also acts as a splicing factor that specifically promotes exon skipping during alternative splicing (PubMed:26876937). Interaction with YTHDC1, a RNA-binding protein that recognizes and binds N6-methyladenosine (m6A)-containing RNAs, prevents SRSF10 from binding to its mRNA-binding sites close to m6A-containing regions, leading to inhibit exon skipping during alternative splicing (PubMed:26876937). May be involved in regulation of alternative splicing in neurons, with isoform 1 acting as a positive and isoform 3 as a negative regulator (PubMed:12419250). Phosphorylated. Fully dephosphorylated in mitosis and partially dephosphorylated on heat shock. Belongs to the splicing factor SR family. Spliceosome;mRNA Splicing - Major Pathway PE1 1 +NX_O75496 Geminin 209 23565 4.93 0 Cytoplasm;Nucleoplasm;Nucleus Meier-Gorlin syndrome 6 Inhibits the transcriptional activity of a subset of Hox proteins, enrolling them in cell proliferative control.;Inhibits DNA replication by preventing the incorporation of MCM complex into pre-replication complex (pre-RC). It is degraded during the mitotic phase of the cell cycle. Its destruction at the metaphase-anaphase transition permits replication in the succeeding cell cycle. Phosphorylated during mitosis. Phosphorylation at Ser-184 by CK2 results in enhanced binding to Hox proteins and more potent inhibitory effect on Hox transcriptional activity. Belongs to the geminin family. CDT1 association with the CDC6:ORC:origin complex;Activation of the pre-replicative complex PE1 6 +NX_O75503 Ceroid-lipofuscinosis neuronal protein 5 358 41497 7.04 1 Membrane;Lysosome Ceroid lipofuscinosis, neuronal, 5 Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane (PubMed:22431521). Can undergo proteolytic cleavage at the C-terminus, probably by a cysteine protease and may involve the removal of approximately 10-15 residues from the C-terminal end (PubMed:26342652).;N-glycosylated with both high mannose and complex type sugars. Glycosylation is important for proper folding and trafficking to the lysosomes.;Ceroid-lipofuscinosis neuronal protein 5: The type II membrane signal anchor is proteolytically cleaved to produce a mature form that is transported to the lysosomes (Ceroid-lipofuscinosis neuronal protein 5, secreted form) (PubMed:24038957, PubMed:20052765). Belongs to the CLN5 family. Lysosome PE1 13 +NX_O75506 Heat shock factor-binding protein 1 76 8544 4.17 0 Nucleus NA Negative regulator of the heat shock response. Negatively affects HSF1 DNA-binding activity. May have a role in the suppression of the activation of the stress response during the aging process. NA Belongs to the HSBP1 family. Attenuation phase;HSF1-dependent transactivation;HSF1 activation PE1 16 +NX_O75508 Claudin-11 207 21993 8.22 4 Tight junction;Cell junction;Cell membrane;Lipid droplet NA Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. NA Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE1 3 +NX_O75509 Tumor necrosis factor receptor superfamily member 21 655 71845 8.09 1 Cytosol;Cell membrane NA Promotes apoptosis, possibly via a pathway that involves the activation of NF-kappa-B. Can also promote apoptosis mediated by BAX and by the release of cytochrome c from the mitochondria into the cytoplasm. Plays a role in neuronal apoptosis, including apoptosis in response to amyloid peptides derived from APP, and is required for both normal cell body death and axonal pruning. Trophic-factor deprivation triggers the cleavage of surface APP by beta-secretase to release sAPP-beta which is further cleaved to release an N-terminal fragment of APP (N-APP). N-APP binds TNFRSF21; this triggers caspase activation and degeneration of both neuronal cell bodies (via caspase-3) and axons (via caspase-6). Negatively regulates oligodendrocyte survival, maturation and myelination. Plays a role in signaling cascades triggered by stimulation of T-cell receptors, in the adaptive immune response and in the regulation of T-cell differentiation and proliferation. Negatively regulates T-cell responses and the release of cytokines such as IL4, IL5, IL10, IL13 and IFNG by Th2 cells. Negatively regulates the production of IgG, IgM and IgM in response to antigens. May inhibit the activation of JNK in response to T-cell stimulation. NA NA Cytokine-cytokine receptor interaction;PPARA activates gene expression PE1 6 +NX_O75521 Enoyl-CoA delta isomerase 2, mitochondrial 394 43585 9.13 0 Peroxisome;Mitochondrion;Peroxisome matrix NA Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species. Has a preference for 3-trans substrates (By similarity). NA In the C-terminal section; belongs to the enoyl-CoA hydratase/isomerase family. Fatty acid metabolism;Peroxisome;Beta-oxidation of very long chain fatty acids;Peroxisomal protein import PE1 6 +NX_O75525 KH domain-containing, RNA-binding, signal transduction-associated protein 3 346 38800 7.04 0 Nucleoplasm;Nucleus NA RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds preferentially to the 5'-[AU]UAAA-3' motif in vitro. Binds optimally to RNA containing 5'-[AU]UAA-3' as a bipartite motif spaced by more than 15 nucleotides. Binds poly(A). RNA-binding abilities are down-regulated by tyrosine kinase PTK6 (PubMed:10564820, PubMed:19561594, PubMed:26758068). Involved in splice site selection of vascular endothelial growth factor (PubMed:15901763). In vitro regulates CD44 alternative splicing by direct binding to purine-rich exonic enhancer (By similarity). Can regulate alternative splicing of neurexins NRXN1-3 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners such as neuroligins and LRRTM family members (PubMed:26758068). Targeted, cell-type specific splicing regulation of NRXN1 at AS4 is involved in neuronal glutamatergic synapse function and plasticity (By similarity). May regulate expression of KHDRBS2/SLIM-1 in defined brain neuron populations by modifying its alternative splicing (By similarity). Can bind FABP9 mRNA (By similarity). May play a role as a negative regulator of cell growth. Inhibits cell proliferation.;(Microbial infection) Involved in post-transcriptional regulation of HIV-1 gene expression. C-terminal region is tyrosine-rich, but isoform 2 lacking this C-terminal region is also tyrosine-phosphorylated.;Phosphorylated on tyrosine residues.;KHDRBS3 is phosphorylated by PTK6 Belongs to the KHDRBS family. PTK6 Regulates Proteins Involved in RNA Processing PE1 8 +NX_O75526 RNA-binding motif protein, X-linked-like-2 392 42814 10.33 0 Nucleus NA NA NA NA NA PE1 11 +NX_O75528 Transcriptional adapter 3 432 48902 5.9 0 Cytoplasm;Nucleoplasm;Nucleus NA Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex. Also known as a coactivator for p53/TP53-dependent transcriptional activation. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. NA Belongs to the NGG1 family. HATs acetylate histones;Ub-specific processing proteases PE1 3 +NX_O75529 TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L 589 66155 5.55 0 Cytosol;Nucleus speckle;Nucleus NA Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex (Probable). With TAF6L, acts as an epigenetic regulator essential for somatic reprogramming. Regulates target genes through H3K9ac deposition and MYC recruitment which trigger MYC regulatory network to orchestrate gene expression programs to control embryonic stem cell state (By similarity). NA Belongs to the WD repeat TAF5 family. Basal transcription factors;Herpes simplex infection;HATs acetylate histones PE1 1 +NX_O75530 Polycomb protein EED 441 50198 6.57 0 Nucleoplasm;Nucleus;Chromosome Cohen-Gibson syndrome Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' and 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Also recognizes 'Lys-26' trimethylated histone H1 with the effect of inhibiting PRC2 complex methyltransferase activity on nucleosomal histone H3 'Lys-27', whereas H3 'Lys-27' recognition has the opposite effect, enabling the propagation of this repressive mark. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A. Methylated. Binding to histone H1 'Lys-26' promotes mono-, di-, and trimethylation of internal lysines. Belongs to the WD repeat ESC family. PKMTs methylate histone lysines;Oxidative Stress Induced Senescence;PRC2 methylates histones and DNA;Activation of anterior HOX genes in hindbrain development during early embryogenesis;Transcriptional Regulation by E2F6;Regulation of PTEN gene transcription PE1 11 +NX_O75531 Barrier-to-autointegration factor 89 10059 5.81 0 Cytoplasm;Chromosome;Nucleoplasm;Nucleus envelope;Cytosol;Nucleus Nestor-Guillermo progeria syndrome (Microbial infection) Exploited by retroviruses for inhibiting self-destructing autointegration of retroviral DNA, thereby promoting integration of viral DNA into the host chromosome. EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. The association of viral DNA with chromatin requires the presence of BAF and EMD.;(Microbial infection) In case of poxvirus infection, has an antiviral activity by blocking viral DNA replication.;Plays fundamental roles in nuclear assembly, chromatin organization, gene expression and gonad development. May potently compress chromatin structure and be involved in membrane recruitment and chromatin decondensation during nuclear assembly. Contains 2 non-specific dsDNA-binding sites which may promote DNA cross-bridging. Ser-4 is the major site of phosphorylation as compared to Thr-2 and Thr-3. Phosphorylation on Thr-2; Thr-3 and Ser-4 disrupts its ability to bind DNA and reduces its ability to bind LEM domain-containing proteins. Non phosphorylated BAF seems to enhance binding between EMD and LMNA. Dephosphorylated by protein phosphatase 2A (PP2A) following interaction with ANKLE2/LEM4 during mitotic exit, leading to mitotic nuclear envelope reassembly.;(Microbial infection) Phosphorylated at the N-terminus by vaccinia virus (VacV) B1 kinase, leading to BANF1 relocalization to the cytoplasm, loss of dimerization and impaired DNA binding activity (PubMed:24600006, PubMed:16495336). Hyperphosphorylation is linked to the loss of ability to suppress vaccinia virus replication (PubMed:24600006). Belongs to the BAF family. Vpr-mediated nuclear import of PICs;Integration of provirus;Initiation of Nuclear Envelope Reformation;2-LTR circle formation;Integration of viral DNA into host genomic DNA;Autointegration results in viral DNA circles;APOBEC3G mediated resistance to HIV-1 infection;Nuclear Envelope Breakdown PE1 11 +NX_O75533 Splicing factor 3B subunit 1 1304 145830 6.65 0 Nucleus speckle;Nucleus NA Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643). SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). Together with other U2 snRNP complex components may also play a role in the selective processing of microRNAs (miRNAs) from the long primary miRNA transcript, pri-miR-17-92 (By similarity). May also be involved in the assembly of the 'E' complex (PubMed:10882114). Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077). Citrullinated by PADI4.;Phosphorylated. Phosphorylation occurs concomitantly with the splicing catalytic steps. Phosphorylation on Thr-244, Thr-248 and Thr-313 by cyclin-dependent kinases promotes interaction with PPP1R8 during mitosis. Belongs to the SF3B1 family. Spliceosome;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;B-WICH complex positively regulates rRNA expression PE1 2 +NX_O75534 Cold shock domain-containing protein E1 798 88885 5.88 0 Cytoplasm;Cytosol;Cell membrane NA RNA-binding protein. Required for internal initiation of translation of human rhinovirus RNA. May be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. NA NA NA PE1 1 +NX_O75541 Zinc finger protein 821 412 46794 6.14 0 Nucleoplasm;Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 16 +NX_O75553 Disabled homolog 1 588 63775 4.88 0 Cytoplasmic vesicle Spinocerebellar ataxia 37 Adapter molecule functioning in neural development. May regulate SIAH1 activity. Phosphorylated on Tyr-198 and Tyr-220 upon reelin induction in embryonic neurons. Also phosphorylated on Ser-524 independently of reelin signaling. NA Reelin signalling pathway PE1 1 +NX_O75554 WW domain-binding protein 4 376 42507 5.45 0 Nucleus speckle;Cell membrane;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA Involved in pre-mRNA splicing as a component of the spliceosome (PubMed:9724750, PubMed:19592703, PubMed:28781166). May play a role in cross-intron bridging of U1 and U2 snRNPs in the mammalian A complex (PubMed:9724750). NA NA mRNA Splicing - Major Pathway PE1 13 +NX_O75556 Mammaglobin-B 95 10884 5.48 0 Cytoplasmic vesicle;Secreted NA May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones. NA Belongs to the secretoglobin family. Lipophilin subfamily. NA PE1 11 +NX_O75558 Syntaxin-11 287 33196 6.11 0 Membrane;trans-Golgi network membrane Familial hemophagocytic lymphohistiocytosis 4 SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network. NA Belongs to the syntaxin family. SNARE interactions in vesicular transport PE1 6 +NX_O75563 Src kinase-associated phosphoprotein 2 359 41217 4.54 0 Nucleoplasm;Cytoplasm;Cytosol NA May be involved in B-cell and macrophage adhesion processes. In B-cells, may act by coupling the B-cell receptor (BCR) to integrin activation. May play a role in src signaling pathway. Phosphorylated in resting platelets. Phosphorylated by FYN on Tyr-261 upon T-cell activation (Probable). Dephosphorylated on Tyr-75 by PTPN22. Belongs to the SKAP family. Signal regulatory protein family interactions PE1 7 +NX_O75564 Jerky protein homolog 556 61815 8.18 0 Nucleoplasm;Nucleus;Nucleolus NA May bind DNA. NA Belongs to the tigger transposable element derived protein family. NA PE1 8 +NX_O75569 Interferon-inducible double-stranded RNA-dependent protein kinase activator A 313 34404 8.68 0 Cytoplasm;Nucleoplasm;Perinuclear region;Cytosol Dystonia 16 Activates EIF2AK2/PKR in the absence of double-stranded RNA (dsRNA), leading to phosphorylation of EIF2S1/EFI2-alpha and inhibition of translation and induction of apoptosis. Required for siRNA production by DICER1 and for subsequent siRNA-mediated post-transcriptional gene silencing. Does not seem to be required for processing of pre-miRNA to miRNA by DICER1. Promotes UBC9-p53/TP53 association and sumoylation and phosphorylation of p53/TP53 at 'Lys-386' at 'Ser-392' respectively and enhances its activity in a EIF2AK2/PKR-dependent manner (By similarity). Phosphorylated at Ser-246 in unstressed cells and at Ser-287 in stressed cells. Phosphorylation at Ser-246 appears to be a prerequisite for subsequent phosphorylation at Ser-287. Phosphorylation at Ser-246 and Ser-287 are necessary for activation of EIF2AK2/PKR under conditions of stress. Belongs to the PRKRA family. MicroRNA (miRNA) biogenesis;Small interfering RNA (siRNA) biogenesis PE1 2 +NX_O75570 Peptide chain release factor 1, mitochondrial 445 52306 8.75 0 Mitochondrion NA Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain non-cognate termination stop codons AGG and AGA. Methylation of glutamine in the GGQ triplet is conserved from bacteria to mammals. Belongs to the prokaryotic/mitochondrial release factor family. NA PE1 13 +NX_O75575 DNA-directed RNA polymerase III subunit RPC9 148 16871 5.29 0 Nucleus;Cell membrane NA Accessory protein for the calcitonin gene-related peptide (CGRP) receptor. It modulates CGRP responsiveness in a variety of tissues.;DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity). NA Belongs to the eukaryotic RPC9 RNA polymerase subunit family. Cytosolic sensors of pathogen-associated DNA;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter PE1 7 +NX_O75578 Integrin alpha-10 1167 127602 6.21 1 Membrane NA Integrin alpha-10/beta-1 is a receptor for collagen. NA Belongs to the integrin alpha chain family. Focal adhesion;ECM-receptor interaction;Regulation of actin cytoskeleton;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Integrin cell surface interactions;CHL1 interactions;Platelet Adhesion to exposed collagen PE1 1 +NX_O75581 Low-density lipoprotein receptor-related protein 6 1613 180429 5.12 1 Endoplasmic reticulum;Membrane raft;Cell membrane Coronary artery disease, autosomal dominant, 2;Tooth agenesis, selective, 7 Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. The Wnt-induced Fzd/LRP6 coreceptor complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the cell surface promoting the formation of signalsomes and inhibiting AXIN1/GSK3-mediated phosphorylation and destruction of beta-catenin. Required for posterior patterning of the epiblast during gastrulation (By similarity). Palmitoylation on the two sites near the transmembrane domain leads to release of LRP6 from the endoplasmic reticulum.;Mono-ubiquitinated which retains LRP6 in the endoplasmic reticulum. Ubiquitinated by ZNRF3, leading to its degradation by the proteasome.;N-glycosylation is required for cell surface location.;Dual phosphorylation of cytoplasmic PPPSP motifs sequentially by GSK3 and CK1 is required for AXIN1-binding, and subsequent stabilization and activation of beta-catenin via preventing GSK3-mediated phosphorylation of beta-catenin. Phosphorylated, in vitro, by GRK5/6 within and outside the PPPSP motifs. Phosphorylation at Ser-1490 by CDK14 during G2/M phase leads to regulation of the Wnt signaling pathway during the cell cycle. Phosphorylation by GSK3B is induced by RPSO1 binding and inhibited by DKK1. Phosphorylated, in vitro, by casein kinase I on Thr-1479.;Undergoes gamma-secretase-dependent regulated intramembrane proteolysis (RIP). The extracellular domain is first released by shedding, and then, through the action of gamma-secretase, the intracellular domain (ICD) is released into the cytoplasm where it is free to bind to GSK3B and to activate canonical Wnt signaling.;LRP6 is phosphorylated by GRK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the LDLR family. Wnt signaling pathway;TCF dependent signaling in response to WNT;Negative regulation of TCF-dependent signaling by WNT ligand antagonists;Regulation of FZD by ubiquitination;RNF mutants show enhanced WNT signaling and proliferation;Disassembly of the destruction complex and recruitment of AXIN to the membrane PE1 12 +NX_O75582 Ribosomal protein S6 kinase alpha-5 802 89865 6.63 0 Cytoplasm;Nucleoplasm;Nucleus NA Serine/threonine-protein kinase that is required for the mitogen or stress-induced phosphorylation of the transcription factors CREB1 and ATF1 and for the regulation of the transcription factors RELA, STAT3 and ETV1/ER81, and that contributes to gene activation by histone phosphorylation and functions in the regulation of inflammatory genes (PubMed:11909979, PubMed:12569367, PubMed:12763138, PubMed:9687510, PubMed:18511904, PubMed:9873047). Phosphorylates CREB1 and ATF1 in response to mitogenic or stress stimuli such as UV-C irradiation, epidermal growth factor (EGF) and anisomycin (PubMed:11909979, PubMed:9873047). Plays an essential role in the control of RELA transcriptional activity in response to TNF and upon glucocorticoid, associates in the cytoplasm with the glucocorticoid receptor NR3C1 and contributes to RELA inhibition and repression of inflammatory gene expression (PubMed:12628924, PubMed:18511904). In skeletal myoblasts is required for phosphorylation of RELA at 'Ser-276' during oxidative stress (PubMed:12628924). In erythropoietin-stimulated cells, is necessary for the 'Ser-727' phosphorylation of STAT3 and regulation of its transcriptional potential (PubMed:12763138). Phosphorylates ETV1/ER81 at 'Ser-191' and 'Ser-216', and thereby regulates its ability to stimulate transcription, which may be important during development and breast tumor formation (PubMed:12569367). Directly represses transcription via phosphorylation of 'Ser-1' of histone H2A (PubMed:15010469). Phosphorylates 'Ser-10' of histone H3 in response to mitogenics, stress stimuli and EGF, which results in the transcriptional activation of several immediate early genes, including proto-oncogenes c-fos/FOS and c-jun/JUN (PubMed:12773393). May also phosphorylate 'Ser-28' of histone H3 (PubMed:12773393). Mediates the mitogen- and stress-induced phosphorylation of high mobility group protein 1 (HMGN1/HMG14) (PubMed:12773393). In lipopolysaccharide-stimulated primary macrophages, acts downstream of the Toll-like receptor TLR4 to limit the production of pro-inflammatory cytokines (By similarity). Functions probably by inducing transcription of the MAP kinase phosphatase DUSP1 and the anti-inflammatory cytokine interleukin 10 (IL10), via CREB1 and ATF1 transcription factors (By similarity). Plays a role in neuronal cell death by mediating the downstream effects of excitotoxic injury (By similarity). Phosphorylates TRIM7 at 'Ser-107' in response to growth factor signaling via the MEK/ERK pathway, thereby stimulating its ubiquitin ligase activity (PubMed:25851810). Ubiquitinated.;Ser-376 and Thr-581 phosphorylation is required for kinase activity. Ser-376 and Ser-212 are autophosphorylated by the C-terminal kinase domain, and their phosphorylation is essential for the catalytic activity of the N-terminal kinase domain. Phosphorylated at Ser-360, Thr-581 and Thr-700 by MAPK1/ERK2, MAPK3/ERK1 and MAPK14/p38-alpha. Autophosphorylated at Ser-750, Ser-752 and Ser-758 by the N-terminal kinase domain. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily. MAPK signaling pathway;Neurotrophin signaling pathway;Bladder cancer;Recycling pathway of L1;CD209 (DC-SIGN) signaling;NCAM signaling for neurite out-growth;ERK/MAPK targets;CREB phosphorylation PE1 14 +NX_O75586 Mediator of RNA polymerase II transcription subunit 6 246 28425 8.71 0 Nucleoplasm;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 6 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 14 +NX_O75592 E3 ubiquitin-protein ligase MYCBP2 4678 513636 6.61 0 Nucleoplasm;Cytoplasmic vesicle;Axon;Nucleus;Cytoskeleton NA Atypical E3 ubiquitin-protein ligase which specifically mediates ubiquitination of threonine and serine residues on target proteins, instead of ubiquitinating lysine residues (PubMed:29643511). Shows esterification activity towards both threonine and serine, with a preference for threonine, and acts via two essential catalytic cysteine residues that relay ubiquitin to its substrate via thioester intermediates (PubMed:29643511). Interacts with the E2 enzymes UBE2D1, UBE2D3, UBE2E1 and UBE2L3 (PubMed:18308511, PubMed:29643511). Plays a key role in neural development, probably by mediating ubiquitination of threonine residues on target proteins (Probable). Involved in different processes such as regulation of neurite outgrowth, synaptic growth, synaptogenesis and axon degeneration (By similarity). Required for the formation of major central nervous system axon tracts (By similarity). Required for proper axon growth by regulating axon navigation and axon branching: acts by regulating the subcellular location and stability of MAP3K12/DLK (By similarity). Required for proper localization of retinogeniculate projections but not for eye-specific segregation (By similarity). Regulates axon guidance in the olfactory system (By similarity). Involved in Wallerian axon degeneration, an evolutionarily conserved process that drives the loss of damaged axons: acts by promoting destabilization of NMNAT2, probably via ubiquitination of NMNAT2 (By similarity). Catalyzes ubiquitination of threonine and/or serine residues on NMNAT2, consequences of threonine and/or serine ubiquitination are however unknown (PubMed:29643511). Regulates the internalization of TRPV1 in peripheral sensory neurons (By similarity). Mediates ubiquitination and subsequent proteasomal degradation of TSC2/tuberin (PubMed:18308511, PubMed:27278822). Independently of the E3 ubiquitin-protein ligase activity, also acts as a guanosine exchange factor (GEF) for RAN in neurons of dorsal root ganglia (PubMed:26304119). May function as a facilitator or regulator of transcriptional activation by MYC (PubMed:9689053). Acts in concert with HUWE1 to regulate the circadian clock gene expression by promoting the lithium-induced ubiquination and degradation of NR1D1 (PubMed:20534529). Autoubiquitinated. Belongs to the RING-Cys relay (RCR) family. Protein modification; protein ubiquitination. PE1 13 +NX_O75593 Forkhead box protein H1 365 39257 9.6 0 Nucleus NA Transcriptional activator. Recognizes and binds to the DNA sequence 5'-TGT[GT][GT]ATT-3'. Required for induction of the goosecoid (GSC) promoter by TGF-beta or activin signaling. Forms a transcriptionally active complex containing FOXH1/SMAD2/SMAD4 on a site on the GSC promoter called TARE (TGF-beta/activin response element). NA NA Signaling by NODAL;Signaling by Activin PE1 8 +NX_O75594 Peptidoglycan recognition protein 1 196 21731 8.92 0 Cytoplasmic granule;Secreted NA Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Binds also to Gram-negative bacteria, and has bacteriostatic activity towards Gram-negative bacteria. Plays a role in innate immunity. N-glycosylated. N-glycosylation is required for bactericidal activity. Belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. Neutrophil degranulation;Antimicrobial peptides PE1 19 +NX_O75596 C-type lectin domain family 3 member A 197 22233 9.07 0 Secreted NA Promotes cell adhesion to laminin-332 and fibronectin. NA NA NA PE1 16 +NX_O75600 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial 419 45285 8.3 0 Nucleoplasm;Nucleus speckle;Nucleus;Mitochondrion NA NA NA Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. Amino-acid degradation; L-threonine degradation via oxydo-reductase pathway; glycine from L-threonine: step 2/2.;Glycine, serine and threonine metabolism;Threonine catabolism PE1 22 +NX_O75602 Sperm-associated antigen 6 509 55476 6.37 0 Flagellum;Cytoplasm;Cytoskeleton NA Important for structural integrity of the central apparatus in the sperm tail and for flagellar motility. NA NA NA PE1 10 +NX_O75603 Chorion-specific transcription factor GCMb 506 56610 7.14 0 Nucleus Hypoparathyroidism, familial isolated;Hyperparathyroidism 4 Transcription factor that binds specific sequences on gene promoters and activate their transcription. Through the regulation of gene transcription, may play a role in parathyroid gland development. NA NA NA PE1 6 +NX_O75604 Ubiquitin carboxyl-terminal hydrolase 2 605 68072 9.15 0 Cytoplasm;Cell membrane;Membrane;Cytosol;Perinuclear region;Nucleus NA Hydrolase that deubiquitinates polyubiquitinated target proteins such as MDM2, MDM4 and CCND1 (PubMed:17290220, PubMed:19917254, PubMed:19838211).;Circadian clock output effector that regulates Ca(2+) absorption in the small intestine. Probably functions by regulating protein levels of the membrane scaffold protein NHERF4 in a rhythmic manner, and is therefore likely to control Ca(2+) membrane permeability mediated by the Ca(2+) channel TRPV6 in the intestine.;Possess both ubiquitin-specific peptidase and isopeptidase activities (By similarity). Deubiquitinates MDM2 without reversing MDM2-mediated p53/TP53 ubiquitination and thus indirectly promotes p53/TP53 degradation and limits p53 activity (PubMed:17290220, PubMed:19838211). Has no deubiquitinase activity against p53/TP53 (PubMed:17290220). Prevents MDM2-mediated degradation of MDM4 (PubMed:17290220). Plays a role in the G1/S cell-cycle progression in normal and cancer cells (PubMed:19917254). Regulates the circadian clock by modulating its intrinsic circadian rhythm and its capacity to respond to external cues (By similarity). Associates with clock proteins and deubiquitinates core clock component PER1 but does not affect its overall stability (By similarity). Regulates the nucleocytoplasmic shuttling and nuclear retention of PER1 and its repressive role on the clock transcription factors CLOCK and ARNTL/BMAL1 (By similarity). Plays a role in the regulation of myogenic differentiation of embryonic muscle cells (By similarity). NA Belongs to the peptidase C19 family. USP2 subfamily. TNFR1-induced proapoptotic signaling;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;Regulation of TP53 Degradation;Ub-specific processing proteases PE1 11 +NX_O75607 Nucleoplasmin-3 178 19344 4.55 0 Cytosol;Nucleus;Nucleolus;Cytoskeleton NA Plays a role in the regulation of diverse cellular processes such as ribosome biogenesis, chromatin remodeling or protein chaperoning (PubMed:22362753, PubMed:20073534). Modulates the histone chaperone function and the RNA-binding activity of nucleolar phosphoprotein B23/NPM (PubMed:22362753). Efficiently mediates chromatin remodeling when included in a pentamer containing NPM3 and NPM (PubMed:15596447). Phosphorylated. Belongs to the nucleoplasmin family. NA PE1 10 +NX_O75608 Acyl-protein thioesterase 1 230 24670 6.29 0 Cytoplasm NA Hydrolyzes fatty acids from S-acylated cysteine residues in proteins such as trimeric G alpha proteins or HRAS. Has depalmitoylating activity toward KCNMA1. Has low lysophospholipase activity. NA Belongs to the AB hydrolase superfamily. AB hydrolase 2 family. Glycerophospholipid metabolism;eNOS activation PE1 8 +NX_O75610 Left-right determination factor 1 366 40880 8.6 0 Secreted NA Required for left-right axis determination as a regulator of LEFTY2 and NODAL. The processing of the protein may also occur at the second R-X-X-R site located at AA 132-135. Processing appears to be regulated in a cell-type specific manner. Belongs to the TGF-beta family. TGF-beta signaling pathway;Signaling by NODAL;Regulation of signaling by NODAL PE1 1 +NX_O75616 GTPase Era, mitochondrial 437 48350 9.05 0 Mitochondrion matrix;Mitochondrion inner membrane;Mitochondrion;Cytosol Perrault syndrome 6 Probable GTPase that plays a role in the mitochondrial ribosomal small subunit assembly. Specifically binds the 12S mitochondrial rRNA (12S mt-rRNA) to a 33 nucleotide section delineating the 3' terminal stem-loop region. May act as a chaperone that protects the 12S mt-rRNA on the 28S mitoribosomal subunit during ribosomal small subunit assembly. NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Era GTPase family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 17 +NX_O75618 Death effector domain-containing protein 318 36794 9.07 0 Cytoplasm;Nucleoplasm;Nucleolus NA A scaffold protein that directs CASP3 to certain substrates and facilitates their ordered degradation during apoptosis. May also play a role in mediating CASP3 cleavage of KRT18. Regulates degradation of intermediate filaments during apoptosis. May play a role in the general transcription machinery in the nucleus and might be an important regulator of the activity of GTF3C3. Inhibits DNA transcription in vitro (By similarity). Exists predominantly in a mono- or diubiquitinated form. NA NA PE1 1 +NX_O75626 PR domain zinc finger protein 1 825 91771 8.76 0 Nucleoplasm;Nucleolus;Cytoplasm;Nucleus NA Transcription factor that mediates a transcriptional program in various innate and adaptive immune tissue-resident lymphocyte T cell types such as tissue-resident memory T (Trm), natural killer (trNK) and natural killer T (NKT) cells and negatively regulates gene expression of proteins that promote the egress of tissue-resident T-cell populations from non-lymphoid organs. Plays a role in the development, retention and long-term establishment of adaptive and innate tissue-resident lymphocyte T cell types in non-lymphoid organs, such as the skin and gut, but also in other nonbarrier tissues like liver and kidney, and therefore may provide immediate immunological protection against reactivating infections or viral reinfection (By similarity). Binds specifically to the PRDI element in the promoter of the beta-interferon gene (PubMed:1851123). Drives the maturation of B-lymphocytes into Ig secreting cells (PubMed:12626569). Associates with the transcriptional repressor ZNF683 to chromatin at gene promoter regions (By similarity). Ubiquitinated by the SCF(FBXO11) complex, leading to its degradation by the proteasome.;Sumoylation at Lys-816 by PIAS1 augments transcriptional repressor activity, and is critical for plasma cell differentiation. Belongs to the class V-like SAM-binding methyltransferase superfamily. Regulation of TP53 Expression PE1 6 +NX_O75628 GTP-binding protein REM 1 298 32947 9.02 0 NA NA Promotes endothelial cell sprouting and actin cytoskeletal reorganization. May be involved in angiogenesis. May function in Ca(2+) signaling. NA Belongs to the small GTPase superfamily. RGK family. NA PE1 20 +NX_O75629 Protein CREG1 220 24075 7.06 0 Cytoplasmic vesicle;Secreted;Cytoskeleton NA May contribute to the transcriptional control of cell growth and differentiation. Antagonizes transcriptional activation and cellular transformation by the adenovirus E1A protein. The transcriptional control activity of cell growth requires interaction with IGF2R. N-glycosylated. Belongs to the CREG family. Neutrophil degranulation PE1 1 +NX_O75631 Uroplakin-3a 287 30670 4.69 1 Nucleus;Endoplasmic reticulum membrane;Nucleus membrane NA Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity). NA Belongs to the uroplakin-3 family. NA PE1 22 +NX_O75635 Serpin B7 380 42905 6.34 0 Endoplasmic reticulum;Cytoplasm;Mitochondrion Keratoderma, palmoplantar, Nagashima type Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin. NA Belongs to the serpin family. Ov-serpin subfamily. NA PE1 18 +NX_O75636 Ficolin-3 299 32903 6.2 0 Secreted Ficolin 3 deficiency May function in innate immunity through activation of the lectin complement pathway. Calcium-dependent and GlcNAc-binding lectin. Has affinity with GalNAc, GlcNAc, D-fucose, as mono/oligosaccharide and lipopolysaccharides from S.typhimurium and S.minnesota. The N-terminus is blocked. Belongs to the ficolin lectin family. Initial triggering of complement;Lectin pathway of complement activation;Ficolins bind to repetitive carbohydrate structures on the target cell surface PE1 1 +NX_O75638 Cancer/testis antigen 2 210 21090 10.02 0 Nucleoplasm;Centrosome;Nucleus;Cytoplasmic vesicle NA NA NA Belongs to the CTAG/PCC1 family. NA PE1 X +NX_O75643 U5 small nuclear ribonucleoprotein 200 kDa helicase 2136 244508 5.73 0 Nucleoplasm;Nucleus Retinitis pigmentosa 33 Plays role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes (PubMed:28502770, PubMed:28781166, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30728453, PubMed:30705154). Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome. Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome. NA Belongs to the helicase family. SKI2 subfamily. Spliceosome;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway PE1 2 +NX_O75648 Mitochondrial tRNA-specific 2-thiouridylase 1 421 47745 8.24 0 Nucleoplasm;Mitochondrion Liver failure, infantile, transient;Deafness, aminoglycoside-induced Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base. NA Belongs to the MnmA/TRMU family. Sulfur relay system;tRNA modification in the mitochondrion PE1 22 +NX_O75663 TIP41-like protein 272 31444 5.6 0 Cytoplasm;Cytosol;Cytoplasmic vesicle NA May be a allosteric regulator of serine/threonine-protein phosphatase 2A (PP2A).;Inhibits catalytic activity of the PP2A(D) core complex in vitro. The PP2A(C):TIPRL complex does not show phosphatase activity. Acts as negative regulator of serine/threonine-protein phosphatase 4 probably by inhibiting the formation of the active PPP4C:PPP4R2 complex; the function is proposed to implicate it in DNA damage response by promoting H2AFX phosphorylated on Ser-140 (gamma-H2AFX). May play a role in the regulation of ATM/ATR signaling pathway controlling DNA replication and repair. NA Belongs to the TIP41 family. NA PE1 1 +NX_O75665 Oral-facial-digital syndrome 1 protein 1012 116671 5.82 0 Centriole;Centriolar satellite;Cilium basal body;Nucleus;Cytoskeleton Simpson-Golabi-Behmel syndrome 2;Retinitis pigmentosa 23;Joubert syndrome 10;Orofaciodigital syndrome 1 Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation (By similarity). NA Belongs to the OFD1 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Hedgehog 'off' state;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 X +NX_O75674 TOM1-like protein 1 476 52989 5.11 0 Membrane;Cytoplasm;Golgi stack;Endosome membrane NA Probable adapter protein involved in signaling pathways. Interacts with the SH2 and SH3 domains of various signaling proteins when it is phosphorylated. May promote FYN activation, possibly by disrupting intramolecular SH3-dependent interactions (By similarity). Phosphorylated on tyrosines by FYN and LYN.;TOM1L1 is phosphorylated by LYN (Phosphotyrosine:PTM-0255) Belongs to the TOM1 family. NA PE1 17 +NX_O75676 Ribosomal protein S6 kinase alpha-4 772 85606 8.51 0 Nucleoplasm;Cytosol;Nucleus NA Serine/threonine-protein kinase that is required for the mitogen or stress-induced phosphorylation of the transcription factors CREB1 and ATF1 and for the regulation of the transcription factor RELA, and that contributes to gene activation by histone phosphorylation and functions in the regulation of inflammatory genes. Phosphorylates CREB1 and ATF1 in response to mitogenic or stress stimuli such as UV-C irradiation, epidermal growth factor (EGF) and anisomycin. Plays an essential role in the control of RELA transcriptional activity in response to TNF. Phosphorylates 'Ser-10' of histone H3 in response to mitogenics, stress stimuli and EGF, which results in the transcriptional activation of several immediate early genes, including proto-oncogenes c-fos/FOS and c-jun/JUN. May also phosphorylate 'Ser-28' of histone H3. Mediates the mitogen- and stress-induced phosphorylation of high mobility group protein 1 (HMGN1/HMG14). In lipopolysaccharide-stimulated primary macrophages, acts downstream of the Toll-like receptor TLR4 to limit the production of pro-inflammatory cytokines. Functions probably by inducing transcription of the MAP kinase phosphatase DUSP1 and the anti-inflammatory cytokine interleukin 10 (IL10), via CREB1 and ATF1 transcription factors. Ser-343 and Thr-568 phosphorylation is required for kinase activity. Ser-343 and Ser-196 are autophosphorylated by the C-terminal kinase domain, and their phosphorylation is essential for the catalytic activity of the N-terminal kinase domain. Phosphorylated at Ser-343, Thr-568 and Thr-687 by MAPK1/ERK2, MAPK3/ERK1 and MAPK14/p38-alpha. Autophosphorylated at Ser-737 and Ser-745 by the N-terminal kinase domain (By similarity).;RPS6KA4 is phosphorylated by MAPK14 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily. MAPK signaling pathway;Neurotrophin signaling pathway;Recycling pathway of L1 PE1 11 +NX_O75677 Ret finger protein-like 1 317 35491 7.49 0 Cytoplasm;Nucleus NA Negatively regulates the G2-M phase transition, possibly by promoting cyclin B1/CCNB1 and CDK1 proteasomal degradation and thereby preventing their accumulation during interphase. Phosphorylated by PKC and CDK1 (PubMed:20725088). The antiproliferative effect seems to be positively regulated by PKC phosphorylation and negatively by CDK1 phosphorylation (PubMed:20725088). NA NA PE1 22 +NX_O75678 Ret finger protein-like 2 378 42077 8.08 0 NA NA NA NA NA NA PE2 22 +NX_O75679 Ret finger protein-like 3 317 35386 7.43 0 Cytoplasm;Nucleus NA (Microbial infection) Stimulates the activity of Human Immunodeficiency Virus 1/HIV-1 pre-integration complex. NA NA NA PE1 22 +NX_O75683 Surfeit locus protein 6 361 41450 10.65 0 Nucleoplasm;Nucleolus NA Binds to both DNA and RNA in vitro, with a stronger binding capacity for RNA. May represent a nucleolar constitutive protein involved in ribosomal biosynthesis or assembly (By similarity). NA Belongs to the SURF6 family. NA PE1 9 +NX_O75688 Protein phosphatase 1B 479 52643 4.95 0 Membrane;Cytosol;Nucleolus NA Enzyme with a broad specificity. Dephosphorylates CDK2 and CDK6 in vitro. Dephosphorylates PRKAA1 and PRKAA2. Inhibits TBK1-mediated antiviral signaling by dephosphorylating it at 'Ser-172'. Plays an important role in the termination of TNF-alpha-mediated NF-kappa-B activation through dephosphorylating and inactivating IKBKB/IKKB. N-myristoylation is essential for the recognition of its substrates for dephosphorylation.;Isgylation negatively regulates its activity. Belongs to the PP2C family. MAPK signaling pathway;ISG15 antiviral mechanism PE1 2 +NX_O75689 Arf-GAP with dual PH domain-containing protein 1 374 43395 9.1 0 Cytoplasm;Cytosol;Nucleus;Cell membrane NA GTPase-activating protein for the ADP ribosylation factor family (Probable). Binds phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). Phosphorylated by PRKCA, PRKCI, PRKCZ and PRKD1 in vitro.;ADAP1 is phosphorylated by PRKCA NA Nuclear signaling by ERBB4 PE1 7 +NX_O75690 Keratin-associated protein 5-8 187 17519 8.24 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 5 family. Keratinization PE2 11 +NX_O75691 Small subunit processome component 20 homolog 2785 318385 7.07 0 Nucleolus;Cell membrane NA Involved in 18S pre-rRNA processing. Associates with U3 snoRNA. NA Belongs to the UTP20 family. rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 12 +NX_O75694 Nuclear pore complex protein Nup155 1391 155199 5.78 0 Nucleus membrane;Nuclear pore complex Atrial fibrillation, familial, 15 Essential component of nuclear pore complex. Could be essessential for embryogenesis. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport. Phosphorylated. Phosphorylation and dephosphorylation may be important for the function of NUP155 and may play a role in the reversible disassembly of the nuclear pore complex during mitosis (By similarity).;Disulfide-linked to NUP62. The inner channel of the NPC has a different redox environment from the cytoplasm and allows the formation of interchain disulfide bonds between some nucleoporins, the significant increase of these linkages upon oxidative stress reduces the permeability of the NPC (By similarity). Belongs to the non-repetitive/WGA-negative nucleoporin family. RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 5 +NX_O75695 Protein XRP2 350 39641 5 0 Nucleoplasm;Cilium;Nucleus;Cell membrane Retinitis pigmentosa 2 Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins. Myristoylated on Gly-2; which may be required for membrane targeting.;Palmitoylated on Cys-3; which may be required for plasma membrane targeting (Probable). Mutation of Cys-3 targets the protein to internal membranes. Belongs to the TBCC family. Trafficking of myristoylated proteins to the cilium PE1 X +NX_O75711 Scrapie-responsive protein 1 98 11081 6.23 0 Secreted NA NA NA Belongs to the SCRG1 family. NA PE1 4 +NX_O75712 Gap junction beta-3 protein 270 30818 8.94 4 Cytoplasmic vesicle;Cell junction;Gap junction;Cell membrane Deafness, autosomal dominant, 2B;Erythrokeratodermia variabilis et progressiva 1 One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. NA Belongs to the connexin family. Beta-type (group I) subfamily. Gap junction assembly PE1 1 +NX_O75715 Epididymal secretory glutathione peroxidase 221 25202 8.83 0 Secreted NA Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione. May constitute a glutathione peroxidase-like protective system against peroxide damage in sperm membrane lipids. NA Belongs to the glutathione peroxidase family. Glutathione metabolism;Arachidonic acid metabolism;Detoxification of Reactive Oxygen Species PE1 6 +NX_O75716 Serine/threonine-protein kinase 16 305 34656 6.42 0 Membrane;Cytosol;Perinuclear region NA Membrane-associated protein kinase that phosphorylates on serine and threonine residues. In vitro substrates include DRG1, ENO1 and EIF4EBP1. Also autophosphorylates. May be involved in secretory vesicle trafficking or intracellular signaling. May have a role in regulating stromal-epithelial interactions that occur during ductal morphogenesis in the mammary gland. May be involved in TGF-beta signaling. Able to autophosphorylate on Tyr residue; it is however unclear whether it has tyrosine-protein kinase toward other proteins. It is uncertain whether palmitoylation is on Cys-6 and/or Cys-8.;Mainly autophosphorylated on serine/threonine residues. Also autophosphorylated on Tyr-198. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. NA PE1 2 +NX_O75717 WD repeat and HMG-box DNA-binding protein 1 1129 125967 5.42 0 Nucleoplasm NA Acts as a replication initiation factor that brings together the MCM2-7 helicase and the DNA polymerase alpha/primase complex in order to initiate DNA replication. NA NA NA PE1 14 +NX_O75718 Cartilage-associated protein 401 46562 5.5 0 Cytosol;Extracellular matrix;Cytoskeleton Osteogenesis imperfecta 7 Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues. NA Belongs to the leprecan family. Collagen biosynthesis and modifying enzymes PE1 3 +NX_O75746 Calcium-binding mitochondrial carrier protein Aralar1 678 74762 8.57 6 Cytosol;Mitochondrion inner membrane;Nucleus speckle Epileptic encephalopathy, early infantile, 39 Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane (PubMed:11566871, PubMed:25410934). May have a function in the urea cycle (PubMed:11566871). NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Mitochondrial protein import;Gluconeogenesis;Aspartate and asparagine metabolism PE1 2 +NX_O75747 Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma 1445 165715 6.46 0 Membrane NA Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers. May play a role in SDF1A-stimulated chemotaxis (By similarity). NA Belongs to the PI3/PI4-kinase family. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PIPs at the plasma membrane;Synthesis of PIPs at the Golgi membrane PE1 12 +NX_O75751 Solute carrier family 22 member 3 556 61280 8.92 7 Membrane;Cytoplasmic vesicle;Cytosol;Nucleoplasm NA Mediates potential-dependent transport of a variety of organic cations. May play a significant role in the disposition of cationic neurotoxins and neurotransmitters in the brain. NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. Abacavir transmembrane transport;Organic cation transport PE1 6 +NX_O75752 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 331 39512 7.67 1 Cytoplasmic vesicle;Golgi apparatus membrane NA Transfers N-acetylgalactosamine onto globotriaosylceramide (PubMed:10993897). Plays a critical role in preimplantation stage embryonic development (By similarity). NA Belongs to the glycosyltransferase 31 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - globo series;Metabolic pathways;Glycosphingolipid metabolism PE1 3 +NX_O75762 Transient receptor potential cation channel subfamily A member 1 1119 127501 6.69 6 Cell membrane Episodic pain syndrome, familial, 1 Receptor-activated non-selective cation channel involved in detection of pain and possibly also in cold perception and inner ear function (PubMed:25389312, PubMed:25855297). Has a central role in the pain response to endogenous inflammatory mediators and to a diverse array of volatile irritants, such as mustard oil, cinnamaldehyde, garlic and acrolein, an irritant from tears gas and vehicule exhaust fumes (PubMed:25389312, PubMed:20547126). Is also activated by menthol (in vitro)(PubMed:25389312). Acts also as an ionotropic cannabinoid receptor by being activated by delta(9)-tetrahydrocannabinol (THC), the psychoactive component of marijuana (PubMed:25389312). May be a component for the mechanosensitive transduction channel of hair cells in inner ear, thereby participating in the perception of sounds. Probably operated by a phosphatidylinositol second messenger system (By similarity). TRPA1 activation by electrophiles occurs though covalent modification of specific cysteine residues in the N-terminal cytoplasmic domain. Belongs to the transient receptor (TC 1.A.4) family. TRP channels PE1 8 +NX_O75764 Transcription elongation factor A protein 3 348 38972 9.32 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3'-terminus. NA Belongs to the TFS-II family. NA PE1 1 +NX_O75771 DNA repair protein RAD51 homolog 4 328 35049 5.89 0 Centrosome;Telomere;Nucleus Breast-ovarian cancer, familial, 4 Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Bind to single-stranded DNA (ssDNA) and has DNA-dependent ATPase activity. Part of the Rad21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. Involved in telomere maintenance. The BCDX2 subcomplex XRCC2:RAD51D can stimulate Holliday junction resolution by BLM. NA Belongs to the RecA family. RAD51 subfamily. Homologous recombination;HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Presynaptic phase of homologous DNA pairing and strand exchange;TP53 Regulates Transcription of DNA Repair Genes PE1 17 +NX_O75781 Paralemmin-1 387 42076 4.94 0 Dendritic spine;Filopodium membrane;Cell membrane;Apicolateral cell membrane;Basolateral cell membrane;Nucleoplasm;Axon;Dendrite NA Are necessary for axonal and dendritic filopodia induction, for dendritic spine maturation and synapse formation in a palmitoylation-dependent manner.;Involved in plasma membrane dynamics and cell process formation. NA Belongs to the paralemmin family. NA PE1 19 +NX_O75783 Rhomboid-related protein 1 438 48314 8.04 7 Membrane;Nucleoplasm NA May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. NA Belongs to the peptidase S54 family. NA PE1 16 +NX_O75787 Renin receptor 350 39008 5.76 1 Autophagosome membrane;Endoplasmic reticulum membrane;Dendritic spine membrane;Lysosome membrane;Axon Parkinsonism with spasticity, X-linked;Mental retardation, X-linked, with epilepsy Multifunctional protein which functions as a renin, prorenin cellular receptor and is involved in the assembly of the proton-transporting vacuolar (V)-ATPase protein pump (PubMed:12045255, PubMed:29127204). May mediate renin-dependent cellular responses by activating ERK1 and ERK2 (PubMed:12045255). By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, it may also play a role in the renin-angiotensin system (RAS) (PubMed:12045255). Probably by controlling the assembly of the V-ATPase pump and thus the acidification of the endo-lysosomal system, plays a role in many neuronal processes including synapse morphology and synaptic transmission (By similarity). Phosphorylated.;Proteolytically cleaved by a furin-like convertase in the trans-Golgi network to generate N- and C-terminal fragments. NA Metabolism of Angiotensinogen to Angiotensins;Neutrophil degranulation PE1 X +NX_O75791 GRB2-related adapter protein 2 330 37909 6.44 0 Cytoplasm;Cell membrane;Nucleoplasm;Endosome;Cytosol;Nucleus NA Interacts with SLP-76 to regulate NF-AT activation. Binds to tyrosine-phosphorylated shc. NA Belongs to the GRB2/sem-5/DRK family. T cell receptor signaling pathway;Generation of second messenger molecules;DAP12 signaling;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Signaling by SCF-KIT;CD28 co-stimulation PE1 22 +NX_O75792 Ribonuclease H2 subunit A 299 33395 5.14 0 Nucleoplasm;Cytosol;Nucleus Aicardi-Goutieres syndrome 4 Catalytic subunit of RNase HII, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes. NA Belongs to the RNase HII family. Eukaryotic subfamily. DNA replication PE1 19 +NX_O75794 Cell division cycle protein 123 homolog 336 39135 4.64 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Cytosol NA Required for S phase entry of the cell cycle. NA Belongs to the CDC123 family. NA PE1 10 +NX_O75795 UDP-glucuronosyltransferase 2B17 530 61095 8.76 1 Microsome membrane;Endoplasmic reticulum membrane NA UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The major substrates of this isozyme are eugenol > 4-methylumbelliferone > dihydrotestosterone (DHT) > androstane-3-alpha,17-beta-diol (3-alpha-diol) > testosterone > androsterone (ADT). NA Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Glucuronidation PE1 4 +NX_O75800 Zinc finger MYND domain-containing protein 10 440 50344 5.81 0 Cytoplasm;Cell membrane;Centriolar satellite;Cytosol;Apical cell membrane Ciliary dyskinesia, primary, 22 Plays a role in axonemal structure organization and motility (PubMed:23891469, PubMed:23891471). Involved in axonemal pre-assembly of inner and outer dynein arms (IDA and ODA, respectively) for proper axoneme building for cilia motility (By similarity). May act by indirectly regulating transcription of dynein proteins (By similarity). NA Belongs to the ZMYND10 family. NA PE1 3 +NX_O75807 Protein phosphatase 1 regulatory subunit 15A 674 73478 4.55 0 Mitochondrion outer membrane;Cytoplasmic vesicle;Endoplasmic reticulum membrane NA Recruits the serine/threonine-protein phosphatase PP1 to dephosphorylate the translation initiation factor eIF-2A/EIF2S1, thereby reversing the shut-off of protein synthesis initiated by stress-inducible kinases and facilitating recovery of cells from stress. Down-regulates the TGF-beta signaling pathway by promoting dephosphorylation of TGFB1 by PP1. May promote apoptosis by inducing TP53 phosphorylation on 'Ser-15'. Phosphorylated at multiple Ser/Thr residues. Phosphorylated on tyrosine by LYN; which impairs its antiproliferative activity. Phosphorylation at Tyr-262 enhances proteasomal degradation, this position is dephosphorylated by PTPN2.;Polyubiquitinated. Exhibits a rapid proteasomal degradation with a half-life under 1 hour, ubiquitination depends on endoplasmic reticulum association.;PPP1R15A is phosphorylated by LYN (Phosphotyrosine:PTM-0255) Belongs to the PPP1R15 family. Protein processing in endoplasmic reticulum;Downregulation of TGF-beta receptor signaling PE1 19 +NX_O75808 Calpain-15 1086 117314 6.27 0 Nucleoplasm NA NA NA Belongs to the peptidase C2 family. Degradation of the extracellular matrix PE1 16 +NX_O75815 Breast cancer anti-estrogen resistance protein 3 825 92566 8.19 0 Cytosol;Centrosome;Cell membrane NA May act as an adapter protein and couple activated growth factor receptors to a signaling pathway that regulates the proliferation in breast cancer cells. When overexpressed, it confers anti-estrogen resistance in breast cancer cell lines. May also be regulated by cellular adhesion to extracellular matrix proteins. NA NA NA PE1 1 +NX_O75817 Ribonuclease P protein subunit p20 140 15651 9.09 0 Cytoplasm;Cytoplasmic granule;Nucleolus;Cytoplasmic vesicle NA Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:9630247, PubMed:30454648). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465). NA Belongs to the histone-like Alba family. Ribosome biogenesis in eukaryotes;RNA transport;tRNA processing in the nucleus PE1 7 +NX_O75818 Ribonuclease P protein subunit p40 363 41834 6.21 0 Nucleoplasm;Nucleolus NA Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:9630247, PubMed:30454648). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465). NA NA Ribosome biogenesis in eukaryotes;RNA transport;tRNA processing in the nucleus;Major pathway of rRNA processing in the nucleolus and cytosol PE1 6 +NX_O75820 Zinc finger protein 189 626 72976 8.85 0 Nucleus;Cytoskeleton NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 9 +NX_O75821 Eukaryotic translation initiation factor 3 subunit G 320 35611 5.87 0 Cytoplasm;Cytosol;Perinuclear region;Nucleus NA RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). This subunit can bind 18S rRNA.;(Microbial infection) In case of FCV infection, plays a role in the ribosomal termination-reinitiation event leading to the translation of VP2 (PubMed:18056426). Phosphorylated. Phosphorylation is enhanced upon serum stimulation. Belongs to the eIF-3 subunit G family. RNA transport;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit PE1 19 +NX_O75822 Eukaryotic translation initiation factor 3 subunit J 258 29062 4.72 0 Cytoplasm;Cytosol NA Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). Phosphorylated. Phosphorylation is enhanced upon serum stimulation. Belongs to the eIF-3 subunit J family. RNA transport;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit PE1 15 +NX_O75828 Carbonyl reductase [NADPH] 3 277 30850 5.82 0 Nucleoplasm;Cytoplasm;Cytosol NA Has low NADPH-dependent oxidoreductase activity towards 4-benzoylpyridine and menadione (in vitro). NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Arachidonic acid metabolism;Metabolism of xenobiotics by cytochrome P450;Metabolic pathways;Phase I - Functionalization of compounds PE1 21 +NX_O75829 Leukocyte cell-derived chemotaxin 1 334 37102 7.5 1 Endomembrane system;Extracellular matrix NA Bifunctional growth regulator that stimulates the growth of cultured chondrocytes in the presence of basic fibroblast growth factor (FGF) but inhibits the growth of cultured vascular endothelial cells. May contribute to the rapid growth of cartilage and vascular invasion prior to the replacement of cartilage by bone during endochondral bone development. Inhibits in vitro tube formation and mobilization of endothelial cells. Plays a role as antiangiogenic factor in cardiac valves to suppress neovascularization. After cleavage, the post-translationally modified ChM-I is secreted as a glycoprotein. Belongs to the chondromodulin-1 family. NA PE1 13 +NX_O75830 Serpin I2 405 46145 5.08 0 Secreted NA NA NA Belongs to the serpin family. NA PE1 3 +NX_O75832 26S proteasome non-ATPase regulatory subunit 10 226 24428 5.71 0 Cytoplasm;Cytosol;Nucleus;Cytoskeleton NA Acts as a chaperone during the assembly of the 26S proteasome, specifically of the PA700/19S regulatory complex (RC). In the initial step of the base subcomplex assembly is part of an intermediate PSMD10:PSMC4:PSMC5:PAAF1 module which probably assembles with a PSMD5:PSMC2:PSMC1:PSMD2 module. Independently of the proteasome, regulates EGF-induced AKT activation through inhibition of the RHOA/ROCK/PTEN pathway, leading to prolonged AKT activation. Plays an important role in RAS-induced tumorigenesis.;Acts as an proto-oncoprotein by being involved in negative regulation of tumor suppressors RB1 and p53/TP53. Overexpression is leading to phosphorylation of RB1 and proteasomal degradation of RB1. Regulates CDK4-mediated phosphorylation of RB1 by competing with CDKN2A for binding with CDK4. Facilitates binding of MDM2 to p53/TP53 and the mono- and polyubiquitination of p53/TP53 by MDM2 suggesting a function in targeting the TP53:MDM2 complex to the 26S proteasome. Involved in p53-independent apoptosis. Involved in regulation of NF-kappa-B by retaining it in the cytoplasm. Binds to the NF-kappa-B component RELA and accelerates its XPO1/CRM1-mediated nuclear export. NA NA Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 X +NX_O75838 Calcium and integrin-binding family member 2 187 21644 4.48 0 Cytoplasm;Photoreceptor inner segment;Photoreceptor outer segment;Stereocilium;Sarcolemma Deafness, autosomal recessive, 48;Usher syndrome 1J Calcium-binding protein critical for proper photoreceptor cell maintenance and function. Plays a role in intracellular calcium homeostasis by decreasing ATP-induced calcium release (PubMed:23023331, PubMed:26173970, PubMed:26426422). May be involved in the mechanotransduction process (By similarity). NA NA NA PE1 15 +NX_O75840 Krueppel-like factor 7 302 33362 8.19 0 Golgi apparatus;Nucleus NA Transcriptional factor (PubMed:9774444, PubMed:16339272). Plays a critical role in neuronal morphogenesis and survival of sensory neurons (By similarity). Represses the corneal epithelium differentiation (PubMed:28916725). Acts also as a metabolic regulator, by modulating insulin sensitivity in pancreatic beta cells and skeletal muscle cells (PubMed:16339272). Inhibits transcriptional inducers of adipogenesis and has a repressive role in the expression of several adipokines, including leptin (PubMed:16339272). NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 2 +NX_O75841 Uroplakin-1b 260 29643 5.16 4 Membrane NA Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions (By similarity). N-glycosylated with high-mannose oligosaccharides. Belongs to the tetraspanin (TM4SF) family. NA PE1 3 +NX_O75843 AP-1 complex subunit gamma-like 2 785 87117 6.09 0 Cytoplasmic vesicle membrane;Endosome membrane;Golgi apparatus membrane NA May function in protein sorting in late endosomes or multivesucular bodies (MVBs).;(Microbial infection) Involved in MVB-assisted maturation of hepatitis B virus (HBV). NA Belongs to the adaptor complexes large subunit family. Lysosome Vesicle Biogenesis PE1 14 +NX_O75844 CAAX prenyl protease 1 homolog 475 54813 7.11 7 Golgi apparatus;Nucleus inner membrane;Cytosol;Endoplasmic reticulum membrane Lethal tight skin contracture syndrome;Mandibuloacral dysplasia with type B lipodystrophy Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C. NA Belongs to the peptidase M48A family. NA PE1 1 +NX_O75845 Lathosterol oxidase 299 35301 7.85 4 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum;Nucleoplasm;Cytosol Lathosterolosis Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol. NA Belongs to the sterol desaturase family. Steroid biosynthesis;Metabolic pathways;Activation of gene expression by SREBF (SREBP);Cholesterol biosynthesis via desmosterol;Cholesterol biosynthesis via lathosterol PE1 11 +NX_O75864 Protein phosphatase 1 regulatory subunit 37 691 74767 4.97 0 Cytosol NA Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. NA Belongs to the PPP1R37 family. NA PE1 19 +NX_O75865 Trafficking protein particle complex subunit 6A 159 17605 5.14 0 Golgi apparatus;Endoplasmic reticulum;cis-Golgi network NA May play a role in vesicular transport during the biogenesis of melanosomes. NA Belongs to the TRAPP small subunits family. BET3 subfamily. COPII-mediated vesicle transport;RAB GEFs exchange GTP for GDP on RABs PE1 19 +NX_O75871 Carcinoembryonic antigen-related cell adhesion molecule 4 244 25909 6.03 1 Membrane NA Granulocyte orphan receptor that acts as an trigger efficient phagocytosis of attached particles. The cytoplasmic ITAM-like sequence becomes tyrosine phosphorylated by SRC family PTKs upon ligand-mediated receptor clustering and allows to initiate phagocytosis of bound ligand.;N-glycosylated. Belongs to the immunoglobulin superfamily. CEA family. NA PE1 19 +NX_O75874 Isocitrate dehydrogenase [NADP] cytoplasmic 414 46659 6.53 0 Peroxisome;Cytosol;Cytoplasm;Nucleus Glioma NA Acetylation at Lys-374 dramatically reduces catalytic activity. Belongs to the isocitrate and isopropylmalate dehydrogenases family. Citrate cycle (TCA cycle);Glutathione metabolism;Metabolic pathways;Peroxisome;Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate;NADPH regeneration;Neutrophil degranulation;Peroxisomal protein import PE1 2 +NX_O75879 Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial 557 61864 8.85 0 Mitochondrion NA Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln). NA Belongs to the GatB/GatE family. GatB subfamily. NA PE1 4 +NX_O75880 Protein SCO1 homolog, mitochondrial 301 33814 9.01 1 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex IV deficiency Copper metallochaperone essential for the maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Not required for the synthesis of MT-CO2/COX2 but plays a crucial role in stabilizing MT-CO2/COX2 during its subsequent maturation. Involved in transporting copper to the Cu(A) site on MT-CO2/COX2 (PubMed:15659396, PubMed:16735468, PubMed:17189203, PubMed:19336478, PubMed:15229189). Plays an important role in the regulation of copper homeostasis by controlling the abundance and cell membrane localization of copper transporter CTR1 (By similarity). NA Belongs to the SCO1/2 family. Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 17 +NX_O75881 Cytochrome P450 7B1 506 58256 8.2 2 Microsome membrane;Endoplasmic reticulum membrane Congenital bile acid synthesis defect 3;Spastic paraplegia 5A, autosomal recessive A cytochrome P450 monooxygenase involved in the metabolism of endogenous oxysterols and steroid hormones, including neurosteroids (PubMed:10588945, PubMed:24491228). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:10588945, PubMed:24491228). Catalyzes the hydroxylation of carbon hydrogen bonds of steroids with a preference for 7-alpha position (PubMed:10588945, PubMed:24491228). Usually metabolizes steroids carrying a hydroxy group at position 3, functioning as a 3-hydroxy steroid 7-alpha hydroxylase (PubMed:24491228). Hydroxylates oxysterols, including 25-hydroxycholesterol and (25R)-cholest-5-ene-3beta,26-diol toward 7-alpha hydroxy derivatives, which may be transported to the liver and converted to bile acids (PubMed:9802883, PubMed:10588945). Via its product 7-alpha,25-dihydroxycholesterol, a ligand for the chemotactic G protein-coupled receptor GPR183/EBI2, regulates B cell migration in germinal centers of lymphoid organs, thus guiding efficient maturation of plasma B cells and overall antigen-specific humoral immune response (By similarity). 7-alpha hydroxylates neurosteroids, including 3beta-hydroxyandrost-5-en-17-one (dehydroepiandrosterone) and pregnenolone, both involved in hippocampus-associated memory and learning (PubMed:24491228). Metabolizes androstanoids toward 6- or 7-alpha hydroxy derivatives (PubMed:24491228). NA Belongs to the cytochrome P450 family. Steroid hormone biosynthesis.;Lipid metabolism; bile acid biosynthesis.;Primary bile acid biosynthesis;Steroid hormone biosynthesis;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 27-hydroxycholesterol;Endogenous sterols;Synthesis of bile acids and bile salts;Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) PE1 8 +NX_O75882 Attractin 1429 158537 7.24 1 Cytosol;Secreted;Cell membrane NA Involved in the initial immune cell clustering during inflammatory response and may regulate chemotactic activity of chemokines. May play a role in melanocortin signaling pathways that regulate energy homeostasis and hair color. Low-affinity receptor for agouti (By similarity). Has a critical role in normal myelination in the central nervous system (By similarity). Heavily glycosylated. NA NA PE1 20 +NX_O75884 Serine hydrolase RBBP9 186 21000 5.79 0 Nucleoplasm NA Serine hydrolase whose substrates have not been identified yet (PubMed:19329999, PubMed:20080647). May negatively regulate basal or autocrine TGF-beta signaling by suppressing SMAD2-SMAD3 phosphorylation (PubMed:20080647). May play a role in the transformation process due to its capacity to confer resistance to the growth-inhibitory effects of TGF-beta through interaction with RB1 and the subsequent displacement of E2F1 (PubMed:9697699). NA Belongs to the RBBP9 family. NA PE1 20 +NX_O75886 Signal transducing adapter molecule 2 525 58164 4.94 0 Cytoplasm;Nucleoplasm;Early endosome membrane;Cytoplasmic vesicle;Cytosol NA Involved in intracellular signal transduction mediated by cytokines and growth factors. Upon IL-2 and GM-CSL stimulation, it plays a role in signaling leading to DNA synthesis and MYC induction. May also play a role in T-cell development. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with HGS (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes (By similarity). Phosphorylated in response to IL-2, GM-CSF, EGF and PDGF. Belongs to the STAM family. Endocytosis;Jak-STAT signaling pathway;Endosomal Sorting Complex Required For Transport (ESCRT);EGFR downregulation;Ub-specific processing proteases;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Negative regulation of MET activity;InlB-mediated entry of Listeria monocytogenes into host cell PE1 2 +NX_O75888 Tumor necrosis factor ligand superfamily member 13 250 27433 9.67 0 Secreted NA Cytokine that binds to TNFRSF13B/TACI and to TNFRSF17/BCMA. Plays a role in the regulation of tumor cell growth. May be involved in monocyte/macrophage-mediated immunological processes. The precursor is cleaved by furin. Belongs to the tumor necrosis factor family. Cytokine-cytokine receptor interaction;Intestinal immune network for IgA production;Rheumatoid arthritis;TNFs bind their physiological receptors;HuR (ELAVL1) binds and stabilizes mRNA PE1 17 +NX_O75891 Cytosolic 10-formyltetrahydrofolate dehydrogenase 902 98829 5.63 0 Cytoplasm;Cytosol NA NA NA In the N-terminal section; belongs to the GART family.;In the C-terminal section; belongs to the aldehyde dehydrogenase family. ALDH1L subfamily. One carbon pool by folate;Metabolism of folate and pterines PE1 3 +NX_O75896 Tumor suppressor candidate 2 110 12074 9.69 0 Cytoplasmic vesicle;Cytosol NA May function as a tumor suppressor, inhibiting colony formation, causing G1 arrest and ultimately inducing apoptosis in homozygous 3p21.3 120-kb region-deficient cells. Myristoylation is required for tumor suppressor activity. Belongs to the TUSC2 family. NA PE1 3 +NX_O75897 Sulfotransferase 1C4 302 35520 8.22 0 Cytoplasm;Cytosol NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of drugs, xenobiotic compounds, hormones, and neurotransmitters. May be involved in the activation of carcinogenic hydroxylamines. Shows activity towards p-nitrophenol and N-hydroxy-2-acetylamino-fluorene (N-OH-2AAF). NA Belongs to the sulfotransferase 1 family. Cytosolic sulfonation of small molecules PE1 2 +NX_O75899 Gamma-aminobutyric acid type B receptor subunit 2 941 105821 8.89 7 Postsynaptic cell membrane;Cell membrane Neurodevelopmental disorder with poor language and loss of hand skills;Epileptic encephalopathy, early infantile, 59 Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2 (PubMed:9872316, PubMed:9872744, PubMed:15617512, PubMed:18165688, PubMed:22660477, PubMed:24305054). Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins (PubMed:18165688). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase (PubMed:10075644, PubMed:10773016, PubMed:24305054). Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis (PubMed:10075644, PubMed:9872744, PubMed:10906333, PubMed:10773016). Plays a critical role in the fine-tuning of inhibitory synaptic transmission (PubMed:9872744, PubMed:22660477). Pre-synaptic GABA receptor inhibits neurotransmitter release by down-regulating high-voltage activated calcium channels, whereas postsynaptic GABA receptor decreases neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials (PubMed:9872316, PubMed:10075644, PubMed:9872744, PubMed:22660477). Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception (Probable). NA Belongs to the G-protein coupled receptor 3 family. GABA-B receptor subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors);Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;GABA B receptor activation PE1 9 +NX_O75900 Matrix metalloproteinase-23 390 43935 9.94 1 Membrane;Endoplasmic reticulum membrane NA Protease. May regulate the surface expression of some potassium channels by retaining them in the endoplasmic reticulum (By similarity). N-glycosylated.;Proteolytic cleavage might yield an active form. Belongs to the peptidase M10A family. NA PE1 1 +NX_O75901 Ras association domain-containing protein 9 435 50021 5.2 0 Endosome NA May play a role in regulating vesicuar trafficking in cells. NA NA NA PE1 12 +NX_O75907 Diacylglycerol O-acyltransferase 1 488 55278 9.41 3 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleolus Diarrhea 7, protein-losing enteropathy type Catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. In contrast to DGAT2 it is not essential for survival. May be involved in VLDL (very low density lipoprotein) assembly. In liver, plays a role in esterifying exogenous fatty acids to glycerol. Functions as the major acyl-CoA retinol acyltransferase (ARAT) in the skin, where it acts to maintain retinoid homeostasis and prevent retinoid toxicity leading to skin and hair disorders. NA Belongs to the membrane-bound acyltransferase family. Sterol o-acyltransferase subfamily. Lipid metabolism; glycerolipid metabolism.;Glycerolipid metabolism;Retinol metabolism;Metabolic pathways;Fat digestion and absorption;Triglyceride biosynthesis;Acyl chain remodeling of DAG and TAG;Neutrophil degranulation PE1 8 +NX_O75908 Sterol O-acyltransferase 2 522 59896 8.96 5 Endoplasmic reticulum membrane NA Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase. May provide cholesteryl esters for lipoprotein secretion from hepatocytes and intestinal mucosa. NA Belongs to the membrane-bound acyltransferase family. Sterol o-acyltransferase subfamily. Steroid biosynthesis;LDL clearance PE1 12 +NX_O75909 Cyclin-K 580 64240 8.6 0 Nucleoplasm;Nucleus Intellectual developmental disorder with hypertelorism and distinctive facies Regulatory subunit of cyclin-dependent kinases that mediates activation of target kinases. Plays a role in transcriptional regulation via its role in regulating the phosphorylation of the C-terminal domain (CTD) of the large subunit of RNA polymerase II (POLR2A). NA Belongs to the cyclin family. Cyclin C subfamily. SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Formation of RNA Pol II elongation complex;Formation of HIV elongation complex in the absence of HIV Tat;RNA Polymerase II Pre-transcription Events;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;RNA polymerase II transcribes snRNA genes;TP53 Regulates Transcription of DNA Repair Genes PE1 14 +NX_O75911 Short-chain dehydrogenase/reductase 3 302 33548 9.07 4 Membrane;Mitochondrion;Nucleolus NA Catalyzes the reduction of all-trans-retinal to all-trans-retinol in the presence of NADPH. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Retinol metabolism;Metabolic pathways;RA biosynthesis pathway;The retinoid cycle in cones (daylight vision) PE1 1 +NX_O75912 Diacylglycerol kinase iota 1065 116997 7.98 0 Cytoplasm;Nucleus NA NA NA Belongs to the eukaryotic diacylglycerol kinase family. Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Effects of PIP2 hydrolysis PE1 7 +NX_O75914 Serine/threonine-protein kinase PAK 3 559 62310 5.33 0 Cytoplasm;Cytosol Mental retardation, X-linked 30 Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, or cell cycle regulation. Plays a role in dendrite spine morphogenesis as well as synapse formation and plasticity. Acts as downstream effector of the small GTPases CDC42 and RAC1. Activation by the binding of active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates MAPK4 and MAPK6 and activates the downstream target MAPKAPK5, a regulator of F-actin polymerization and cell migration. Additionally, phosphorylates TNNI3/troponin I to modulate calcium sensitivity and relaxation kinetics of thin myofilaments. May also be involved in early neuronal development. Neddylated.;Autophosphorylated when activated by CDC42/p21.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. ErbB signaling pathway;Axon guidance;Focal adhesion;T cell receptor signaling pathway;Regulation of actin cytoskeleton;Renal cell carcinoma;MAPK6/MAPK4 signaling;Generation of second messenger molecules;Ephrin signaling;VEGFR2 mediated vascular permeability;CD28 dependent Vav1 pathway;Sema3A PAK dependent Axon repulsion;CD209 (DC-SIGN) signaling;RHO GTPases activate PAKs;Activation of RAC1 PE1 X +NX_O75915 PRA1 family protein 3 188 21615 9.77 4 Cytoplasm;Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum;Cytoskeleton NA Regulates intracellular concentrations of taurine and glutamate. Negatively modulates SLC1A1/EAAC1 glutamate transport activity by decreasing its affinity for glutamate in a PKC activity-dependent manner. May be involved in membrane traffic. NA Belongs to the PRA1 family. Glutamate Neurotransmitter Release Cycle PE1 3 +NX_O75916 Regulator of G-protein signaling 9 674 76966 9.42 0 Membrane;Nucleoplasm;Cytoplasmic vesicle Prolonged electroretinal response suppression Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to GNAT1. Involved in phototransduction; key element in the recovery phase of visual transduction (By similarity). Retinal isoform 3 is light-dependent phosphorylated at 'Ser-478'. Phosphorylation is decreased by light exposition (By similarity). NA Phototransduction;G alpha (i) signalling events;Inactivation, recovery and regulation of the phototransduction cascade;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding PE1 17 +NX_O75920 Small EDRK-rich factor 1 110 12349 9.79 0 Cytosol;Nucleus NA Positive regulator of amyloid protein aggregation and proteotoxicity (PubMed:20723760, PubMed:22854022, PubMed:31034892). Induces conformational changes in amyloid proteins, such as APP, HTT, and SNCA, driving them into compact formations preceding the formation of aggregates (PubMed:20723760, PubMed:22854022, PubMed:31034892). NA Belongs to the SERF family. NA PE1 5 +NX_O75923 Dysferlin 2080 237295 5.44 1 Sarcolemma;Centriolar satellite;Cytoplasmic vesicle membrane;Cell membrane Distal myopathy with anterior tibial onset;Miyoshi muscular dystrophy 1;Muscular dystrophy, limb-girdle, autosomal recessive 2 Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). NA Belongs to the ferlin family. Smooth Muscle Contraction PE1 2 +NX_O75925 E3 SUMO-protein ligase PIAS1 651 71836 6.9 0 Nucleus speckle;PML body;Cytoskeleton NA Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway, the p53 pathway and the steroid hormone signaling pathway. In vitro, binds A/T-rich DNA. The effects of this transcriptional coregulation, transactivation or silencing, may vary depending upon the biological context. Sumoylates PML (at'Lys-65' and 'Lys-160') and PML-RAR and promotes their ubiquitin-mediated degradation. PIAS1-mediated sumoylation of PML promotes its interaction with CSNK2A1/CK2 which in turn promotes PML phosphorylation and degradation (By similarity). Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation. Plays a dynamic role in adipogenesis by promoting the SUMOylation and degradation of CEBPB (By similarity). Sumoylated. Belongs to the PIAS family. Protein modification; protein sumoylation.;Ubiquitin mediated proteolysis;Jak-STAT signaling pathway;Hepatitis C;Pathways in cancer;Small cell lung cancer;SUMOylation of DNA damage response and repair proteins;Regulation of IFNG signaling;Formation of Incision Complex in GG-NER;SUMOylation of transcription factors;SUMOylation of chromatin organization proteins;SUMOylation of intracellular receptors;SUMOylation of ubiquitinylation proteins;SUMOylation of transcription cofactors PE1 15 +NX_O75928 E3 SUMO-protein ligase PIAS2 621 68240 7.47 0 Nucleoplasm;Nucleus;Nucleus speckle;PML body NA But not isoform PIAS2-alpha, promotes MDM2 sumoylation.;Promotes PARK7 sumoylation.;Sumoylates PML at'Lys-65' and 'Lys-160'.;Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulator in various cellular pathways, including the STAT pathway, the p53 pathway and the steroid hormone signaling pathway. The effects of this transcriptional coregulation, transactivation or silencing may vary depending upon the biological context and the PIAS2 isoform studied. However, it seems to be mostly involved in gene silencing. Binds to sumoylated ELK1 and enhances its transcriptional activity by preventing recruitment of HDAC2 by ELK1, thus reversing SUMO-mediated repression of ELK1 transactivation activity.;Promotes NCOA2 sumoylation more efficiently than isoform PIAS2-alpha. Sumoylated. Belongs to the PIAS family. Protein modification; protein sumoylation.;Ubiquitin mediated proteolysis;Jak-STAT signaling pathway;Hepatitis C;Pathways in cancer;Small cell lung cancer;SUMOylation of DNA damage response and repair proteins;Activation of anterior HOX genes in hindbrain development during early embryogenesis;SUMOylation of transcription factors;SUMOylation of chromatin organization proteins;SUMOylation of intracellular receptors;SUMOylation of ubiquitinylation proteins;SUMOylation of transcription cofactors PE1 18 +NX_O75934 Pre-mRNA-splicing factor SPF27 225 26131 5.48 0 Nucleolus;Nucleus speckle;Centrosome;Nucleus NA Required for pre-mRNA splicing as component of the activated spliceosome (PubMed:28502770, PubMed:28076346, PubMed:29360106, PubMed:29301961, PubMed:30705154). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR). NA Belongs to the SPF27 family. Spliceosome;mRNA Splicing - Major Pathway PE1 1 +NX_O75935 Dynactin subunit 3 186 21119 5.37 0 Cytoplasm;Cleavage furrow;Nucleolus;Midbody;Centrosome;Cytosol;Spindle;Kinetochore NA Together with dynein may be involved in spindle assembly and cytokinesis. NA Belongs to the dynactin subunit 3 family. Anchoring of the basal body to the plasma membrane;MHC class II antigen presentation;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;AURKA Activation by TPX2;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 9 +NX_O75936 Gamma-butyrobetaine dioxygenase 387 44715 6.28 0 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton NA Catalyzes the formation of L-carnitine from gamma-butyrobetaine. NA Belongs to the gamma-BBH/TMLD family. Amine and polyamine biosynthesis; carnitine biosynthesis.;Lysine degradation;Carnitine synthesis PE1 11 +NX_O75937 DnaJ homolog subfamily C member 8 253 29842 9.04 0 Nucleoplasm;Nucleus NA Suppresses polyglutamine (polyQ) aggregation of ATXN3 in neuronal cells (PubMed:27133716). NA NA mRNA Splicing - Major Pathway PE1 1 +NX_O75940 Survival of motor neuron-related-splicing factor 30 238 26711 6.78 0 Cajal body;Nucleoplasm;Nucleus speckle;Nucleus NA Necessary for spliceosome assembly. Overexpression causes apoptosis. NA Belongs to the SMN family. Spliceosome;mRNA Splicing - Major Pathway PE1 10 +NX_O75943 Cell cycle checkpoint protein RAD17 681 77055 6.63 0 Cytoplasm;Nucleoplasm;Nucleus NA Essential for sustained cell growth, maintenance of chromosomal stability, and ATR-dependent checkpoint activation upon DNA damage. Has a weak ATPase activity required for binding to chromatin. Participates in the recruitment of the RAD1-RAD9-HUS1 complex and RHNO1 onto chromatin, and in CHEK1 activation. May also serve as a sensor of DNA replication progression, and may be involved in homologous recombination. Phosphorylated. Phosphorylation on Ser-646 and Ser-656 is cell cycle-regulated, enhanced by genotoxic stress, and required for activation of checkpoint signaling. Phosphorylation is mediated by ATR upon UV or replication arrest, whereas it may be mediated both by ATR and ATM upon ionizing radiation. Phosphorylation on both sites is required for interaction with RAD1 but dispensable for interaction with RFC3 or RFC4. Belongs to the rad17/RAD24 family. Activation of ATR in response to replication stress;G2/M DNA damage checkpoint;HDR through Single Strand Annealing (SSA);Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Regulation of TP53 Activity through Phosphorylation PE1 5 +NX_O75947 ATP synthase subunit d, mitochondrial 161 18491 5.21 0 Mitochondrion inner membrane;Mitochondrion NA Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements. NA Belongs to the ATPase d subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Formation of ATP by chemiosmotic coupling;Cristae formation PE1 17 +NX_O75949 Transmembrane protein FAM155B 472 52477 8.19 2 Membrane NA NA NA Belongs to the FAM155 family. NA PE2 X +NX_O75951 Lysozyme-like protein 6 148 16956 5.73 0 Cell surface;Secreted;Flagellum NA May be involved sperm-egg plasma membrane adhesion and fusion during fertilization (PubMed:28182716). Exhibits bacteriolytic activity in vitro against Micrococcus luteus and Staphylococcus aureus (PubMed:28182716, PubMed:24013621). Shows weak bacteriolytic activity against Gram-positive bacteria at physiological pH (PubMed:28182716). Bacteriolytic activity is pH-dependent, with a maximum at around pH 5.6 (PubMed:28182716). NA Belongs to the glycosyl hydrolase 22 family. NA PE1 17 +NX_O75952 Calcium-binding tyrosine phosphorylation-regulated protein 493 52774 4.51 0 Cytoplasm;Nucleoplasm;Flagellum;Cytosol;Nucleus;Cytoskeleton NA Do not bind calcium in vitro.;May function as a regulator of both motility- and head-associated functions such as capacitation and the acrosome reaction.;Probably bind calcium.;Probably does not bind calcium.;Binds calcium in vitro. Is phosphorylated on tyrosine residues during in vitro capacitation.;Are phosphorylated by GSK3B in vitro. Dephosphorylation affects its ability to bind calcium. NA NA PE1 18 +NX_O75953 DnaJ homolog subfamily B member 5 348 39133 9.12 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 9 +NX_O75954 Tetraspanin-9 239 26779 7.89 4 Membrane;Golgi apparatus;Cytosol;Nucleoplasm NA NA Glycosylated. Belongs to the tetraspanin (TM4SF) family. NA PE1 12 +NX_O75955 Flotillin-1 427 47355 7.08 0 Golgi apparatus;Cell membrane;Endosome;Caveola;Melanosome;Cytoplasmic vesicle;Membrane raft NA May act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles. NA Belongs to the band 7/mec-2 family. Flotillin subfamily. Insulin signaling pathway;Synaptic adhesion-like molecules PE1 6 +NX_O75956 Cyclin-dependent kinase 2-associated protein 2 126 13101 9.51 0 Cytoplasm;Nucleoplasm;Nucleus NA Plays a role in regulating the self-renewal of embryonic stem cells (ESCs) and in maintaining cell survival during terminal differentiation of ESCs. Regulates microtubule organization of metaphase II oocytes (By similarity). Inhibits cell cycle G1/S phase transition by repressing CDK2 expression and activation; represses CDK2 activation by inhibiting its interaction with cyclin E and A (PubMed:23781148). Phosphorylated by MAPK1 and CDK2. Belongs to the CDK2AP family. NA PE1 11 +NX_O75962 Triple functional domain protein 3097 346900 5.94 0 Cytoplasm;Cytosol;Cell projection;Cytoplasmic vesicle Mental retardation, autosomal dominant 44 Guanine nucleotide exchange factor (GEF) for RHOA and RAC1 GTPases (PubMed:8643598, PubMed:22155786, PubMed:27418539). Involved in coordinating actin remodeling, which is necessary for cell migration and growth (PubMed:10341202, PubMed:22155786). In developing hippocampal neurons, limits dendrite formation, without affecting the establishment of axon polarity. Once dendrites are formed, involved in the control of synaptic function by regulating the endocytosis of AMPA-selective glutamate receptors (AMPARs) at CA1 excitatory synapses (By similarity). May act as a regulator of adipogenesis (By similarity). Phosphorylated on serine residue(s). Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. G alpha (q) signalling events;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events;DCC mediated attractive signaling PE1 5 +NX_O75964 ATP synthase subunit g, mitochondrial 103 11428 9.65 0 Mitochondrion inner membrane;Mitochondrion NA Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane. NA Belongs to the ATPase g subunit family. Oxidative phosphorylation;Metabolic pathways;Formation of ATP by chemiosmotic coupling;Cristae formation PE1 11 +NX_O75969 A-kinase anchor protein 3 853 94751 5.84 0 Acrosome NA May function as a regulator of both motility- and head-associated functions such as capacitation and the acrosome reaction. Phosphorylated on tyrosine residues. Belongs to the AKAP110 family. NA PE1 12 +NX_O75970 Multiple PDZ domain protein 2070 221618 4.95 0 Cell membrane;Synaptosome;Tight junction;Postsynaptic density;Synapse;Apical cell membrane;Dendrite Hydrocephalus, congenital, 2, with or without brain or eye anomalies Interacts with HTR2C and provokes its clustering at the cell surface (By similarity). Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses. NA NA Tight junction PE1 9 +NX_O75971 snRNA-activating protein complex subunit 5 98 11328 4.55 0 Nucleoplasm;Nucleus NA Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box. NA NA RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 3 Promoter;RNA polymerase II transcribes snRNA genes PE1 15 +NX_O75973 C1q-related factor 258 26453 5.32 0 Secreted NA May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity). NA NA NA PE1 17 +NX_O75976 Carboxypeptidase D 1380 152931 5.68 1 Nucleoplasm;Nucleus speckle;Nucleus membrane;Cell membrane NA NA NA Belongs to the peptidase M14 family. Golgi Associated Vesicle Biogenesis PE1 17 +NX_O75995 SAM and SH3 domain-containing protein 3 380 41595 5.17 0 Nucleoplasm;Nucleus;Cell membrane NA May function as a signaling adapter protein in lymphocytes. NA NA NA PE1 X +NX_O76000 Putative olfactory receptor 2B3 313 35543 8.77 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 6 +NX_O76001 Olfactory receptor 2J3 311 34950 7.6 7 Cell membrane NA Odorant receptor involved in the detection of the flavor compound cis-3-hexen-1-ol (C3HEX), a compound typically described as 'green grassy' or the smell of 'cut grass'. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE1 6 +NX_O76002 Olfactory receptor 2J2 312 35204 8.5 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 6 +NX_O76003 Glutaredoxin-3 335 37432 5.31 0 Cytosol;Cell cortex;Z line NA Together with BOLA2, acts as a cytosolic iron-sulfur (Fe-S) cluster assembly factor that facilitates [2Fe-2S] cluster insertion into a subset of cytosolic proteins (PubMed:26613676, PubMed:27519415). Acts as a critical negative regulator of cardiac hypertrophy and a positive inotropic regulator (By similarity). Required for hemoglobin maturation (PubMed:23615448). Does not possess any thyoredoxin activity since it lacks the conserved motif that is essential for catalytic activity. NA NA Iron uptake and transport PE1 10 +NX_O76009 Keratin, type I cuticular Ha3-I 404 45940 4.78 0 NA NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_O76011 Keratin, type I cuticular Ha4 436 49424 5.01 0 Nucleoplasm;Cytoplasmic vesicle NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_O76013 Keratin, type I cuticular Ha6 467 52247 4.9 0 NA NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_O76014 Keratin, type I cuticular Ha7 449 49747 4.9 0 NA NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_O76015 Keratin, type I cuticular Ha8 456 50480 4.79 0 NA NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_O76021 Ribosomal L1 domain-containing protein 1 490 54973 10.13 0 Nucleolus NA Regulates cellular senescence through inhibition of PTEN translation. Acts as a pro-apoptotic regulator in response to DNA damage. NA Belongs to the universal ribosomal protein uL1 family. Highly divergent. NA PE1 16 +NX_O76024 Wolframin 890 100292 8.34 11 Endoplasmic reticulum membrane Wolfram syndrome 1;Deafness, autosomal dominant, 6;Cataract 41;Wolfram-like syndrome autosomal dominant Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store. NA NA Protein processing in endoplasmic reticulum;XBP1(S) activates chaperone genes;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 4 +NX_O76027 Annexin A9 345 38364 5.53 0 Cytosol;Nucleus speckle NA Low affinity receptor for acetylcholine known to be targeted by disease-causing pemphigus vulgaris antibodies in keratinocytes. NA Belongs to the annexin family. NA PE1 1 +NX_O76031 ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial 633 69224 7.51 0 Nucleoplasm;Cytosol;Mitochondrion;Mitochondrion nucleoid Protoporphyria, erythropoietic, 2 ATP-dependent specificity component of the Clp protease complex. Hydrolyzes ATP (PubMed:28874591). Targets specific substrates for degradation by the Clp complex (PubMed:11923310, PubMed:22710082). Can perform chaperone functions in the absence of CLPP. Enhances the DNA-binding activity of TFAM and is required for maintaining a normal mitochondrial nucleoid structure (PubMed:22841477). ATP-dependent unfoldase that stimulates the incorporation of the pyridoxal phosphate cofactor into 5-aminolevulinate synthase, thereby activating 5-aminolevulinate (ALA) synthesis, the first step in heme biosynthesis (PubMed:28874591). Important for efficient erythropoiesis through upregulation of heme biosynthesis (PubMed:25957689, PubMed:28874591). NA Belongs to the ClpX chaperone family. NA PE1 15 +NX_O76036 Natural cytotoxicity triggering receptor 1 304 34481 7.63 1 Endoplasmic reticulum;Cell membrane NA Cytotoxicity-activating receptor that may contribute to the increased efficiency of activated natural killer (NK) cells to mediate tumor cell lysis. N-glycosylated.;O-glycosylated. Belongs to the natural cytotoxicity receptor (NCR) family. Natural killer cell mediated cytotoxicity;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_O76038 Secretagogin 276 32040 5.25 0 Cytoplasm;Cytosol;Secretory vesicle membrane;Secreted NA NA NA NA NA PE1 6 +NX_O76039 Cyclin-dependent kinase-like 5 1030 115538 9.58 0 Nucleoplasm;Cilium basal body;Centrosome;Nucleus Epileptic encephalopathy, early infantile, 2 Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175). Autophosphorylated.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. NA PE1 X +NX_O76041 Nebulette 1014 116453 7.89 0 Cytoplasm NA Might play a role in the assembly of focal adhesion (PubMed:15004028).;Binds to actin and plays an important role in the assembly of the Z-disk. May functionally link sarcomeric actin to the desmin intermediate filaments in the heart muscle sarcomeres (PubMed:27733623). NA NA NA PE1 10 +NX_O76042 Putative uncharacterized protein encoded by ERC2-IT1 136 14968 8.57 0 NA NA NA NA NA NA PE5 3 +NX_O76050 E3 ubiquitin-protein ligase NEURL1 574 61860 8.89 0 Perinuclear region;Cell membrane;Perikaryon;Postsynaptic density;Dendrite NA Plays a role in hippocampal-dependent synaptic plasticity, learning and memory. Involved in the formation of spines and functional synaptic contacts by modulating the translational activity of the cytoplasmic polyadenylation element-binding protein CPEB3. Promotes ubiquitination of CPEB3, and hence induces CPEB3-dependent mRNA translation activation of glutamate receptor GRIA1 and GRIA2. Can function as an E3 ubiquitin-protein ligase to activate monoubiquitination of JAG1 (in vitro), thereby regulating the Notch pathway. Acts as a tumor suppressor; inhibits malignant cell transformation of medulloblastoma (MB) cells by inhibiting the Notch signaling pathway. Myristoylation is a determinant of membrane targeting. NA Protein modification; protein ubiquitination.;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activated NOTCH1 Transmits Signal to the Nucleus;Constitutive Signaling by NOTCH1 HD Domain Mutants;NOTCH2 Activation and Transmission of Signal to the Nucleus;NOTCH3 Activation and Transmission of Signal to the Nucleus PE1 10 +NX_O76054 SEC14-like protein 2 403 46145 7.95 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Carrier protein. Binds to some hydrophobic molecules and promotes their transfer between the different cellular sites. Binds with high affinity to alpha-tocopherol. Also binds with a weaker affinity to other tocopherols and to tocotrienols. May have a transcriptional activatory activity via its association with alpha-tocopherol. Probably recognizes and binds some squalene structure, suggesting that it may regulate cholesterol biosynthesis by increasing the transfer of squalene to a metabolic active pool in the cell. NA NA NA PE1 22 +NX_O76061 Stanniocalcin-2 302 33249 6.93 0 Endoplasmic reticulum;Secreted NA Has an anti-hypocalcemic action on calcium and phosphate homeostasis. NA Belongs to the stanniocalcin family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 5 +NX_O76062 Delta(14)-sterol reductase TM7SF2 418 46406 9.05 7 Microsome membrane;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Endoplasmic reticulum NA Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis. NA Belongs to the ERG4/ERG24 family. Steroid biosynthesis; cholesterol biosynthesis.;Steroid biosynthesis;Metabolic pathways;Cholesterol biosynthesis;Activation of gene expression by SREBF (SREBP) PE1 11 +NX_O76064 E3 ubiquitin-protein ligase RNF8 485 55518 7.08 0 Cytoplasm;Nucleoplasm;Midbody;Telomere;Cytosol;Nucleus NA E3 ubiquitin-protein ligase that plays a key role in DNA damage signaling via 2 distinct roles: by mediating the 'Lys-63'-linked ubiquitination of histones H2A and H2AX and promoting the recruitment of DNA repair proteins at double-strand breaks (DSBs) sites, and by catalyzing 'Lys-48'-linked ubiquitination to remove target proteins from DNA damage sites. Following DNA DSBs, it is recruited to the sites of damage by ATM-phosphorylated MDC1 and catalyzes the 'Lys-63'-linked ubiquitination of histones H2A and H2AX, thereby promoting the formation of TP53BP1 and BRCA1 ionizing radiation-induced foci (IRIF). Also controls the recruitment of UIMC1-BRCC3 (RAP80-BRCC36) and PAXIP1/PTIP to DNA damage sites. Also recruited at DNA interstrand cross-links (ICLs) sites and catalyzes 'Lys-63'-linked ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20/C1orf86 and Fanconi anemia (FA) complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the ATM-dependent transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between transcription and repair intermediates. Promotes the formation of 'Lys-63'-linked polyubiquitin chains via interactions with the specific ubiquitin-conjugating UBE2N/UBC13 and ubiquitinates non-histone substrates such as PCNA. Substrates that are polyubiquitinated at 'Lys-63' are usually not targeted for degradation. Also catalyzes the formation of 'Lys-48'-linked polyubiquitin chains via interaction with the ubiquitin-conjugating UBE2L6/UBCH8, leading to degradation of substrate proteins such as CHEK2, JMJD2A/KDM4A and KU80/XRCC5: it is still unclear how the preference toward 'Lys-48'- versus 'Lys-63'-linked ubiquitination is regulated but it could be due to RNF8 ability to interact with specific E2 specific ligases. For instance, interaction with phosphorylated HERC2 promotes the association between RNF8 and UBE2N/UBC13 and favors the specific formation of 'Lys-63'-linked ubiquitin chains. Promotes non-homologous end joining (NHEJ) by promoting the 'Lys-48'-linked ubiquitination and degradation the of KU80/XRCC5. Following DNA damage, mediates the ubiquitination and degradation of JMJD2A/KDM4A in collaboration with RNF168, leading to unmask H4K20me2 mark and promote the recruitment of TP53BP1 at DNA damage sites (PubMed:11322894, PubMed:14981089, PubMed:17724460, PubMed:18001824, PubMed:18001825, PubMed:18006705, PubMed:18077395, PubMed:18337245, PubMed:18948756, PubMed:19015238, PubMed:19124460, PubMed:19202061, PubMed:19203578, PubMed:19203579, PubMed:20550933, PubMed:21558560, PubMed:21857671, PubMed:21911360, PubMed:22266820, PubMed:22373579, PubMed:22531782, PubMed:22705371, PubMed:22865450, PubMed:22980979). Following DNA damage, mediates the ubiquitination and degradation of POLD4/p12, a subunit of DNA polymerase delta. In the absence of POLD4, DNA polymerase delta complex exhibits higher proofreading activity (PubMed:23233665). In addition to its function in damage signaling, also plays a role in higher-order chromatin structure by mediating extensive chromatin decondensation. Involved in the activation of ATM by promoting histone H2B ubiquitination, which indirectly triggers histone H4 'Lys-16' acetylation (H4K16ac), establishing a chromatin environment that promotes efficient activation of ATM kinase. Required in the testis, where it plays a role in the replacement of histones during spermatogenesis. At uncapped telomeres, promotes the joining of deprotected chromosome ends by inducing H2A ubiquitination and TP53BP1 recruitment, suggesting that it may enhance cancer development by aggravating telomere-induced genome instability in case of telomeric crisis. Promotes the assembly of RAD51 at DNA DSBs in the absence of BRCA1 and TP53BP1 Also involved in class switch recombination in immune system, via its role in regulation of DSBs repair. May be required for proper exit from mitosis after spindle checkpoint activation and may regulate cytokinesis. May play a role in the regulation of RXRA-mediated transcriptional activity. Not involved in RXRA ubiquitination by UBE2E2 (PubMed:11322894, PubMed:14981089, PubMed:17724460, PubMed:18001824, PubMed:18001825, PubMed:18006705, PubMed:18077395, PubMed:18337245, PubMed:18948756, PubMed:19015238, PubMed:19124460, PubMed:19202061, PubMed:19203578, PubMed:19203579, PubMed:20550933, PubMed:21558560, PubMed:21857671, PubMed:21911360, PubMed:22266820, PubMed:22373579, PubMed:22531782, PubMed:22705371, PubMed:22865450, PubMed:22980979). Autoubiquitinated through 'Lys-48' and 'Lys-63' of ubiquitin. 'Lys-63' polyubiquitination is mediated by UBE2N. 'Lys-29'-type polyubiquitination is also observed, but it doesn't require its own functional RING-type zinc finger. Belongs to the RNF8 family. Protein modification; protein ubiquitination.;G2/M DNA damage checkpoint;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ) PE1 6 +NX_O76070 Gamma-synuclein 127 13331 4.89 0 Spindle;Centrosome;Nucleus;Perinuclear region NA Plays a role in neurofilament network integrity. May be involved in modulating axonal architecture during development and in the adult. In vitro, increases the susceptibility of neurofilament-H to calcium-dependent proteases (By similarity). May also function in modulating the keratin network in skin. Activates the MAPK and Elk-1 signal transduction pathway (By similarity). Phosphorylated. Phosphorylation by GRK5 appears to occur on residues distinct from the residue phosphorylated by other kinases.;SNCG is phosphorylated by PLK3;SNCG is phosphorylated by PLK2 Belongs to the synuclein family. NA PE1 10 +NX_O76071 Probable cytosolic iron-sulfur protein assembly protein CIAO1 339 37840 4.81 0 Nucleoplasm;Cytoplasm;Cytosol NA Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins (PubMed:17937914, PubMed:23891004). As a CIA complex component, interacts specifically with CIAO2A or CIAO2B and MMS19 to assist different branches of iron-sulfur protein assembly, depending of its interactors. The complex CIAO1:CIAO2B:MMS19 binds to and facilitates the assembly of most cytosolic-nuclear Fe/S proteins. CIAO1:CIAO2A specifically matures ACO1 and stabilizes IREB2 (PubMed:23891004). Seems to specifically modulate the transactivation activity of WT1 (PubMed:9556563). As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation (PubMed:20797633). NA Belongs to the WD repeat CIA1 family. Cytosolic iron-sulfur cluster assembly PE1 2 +NX_O76074 cGMP-specific 3',5'-cyclic phosphodiesterase 875 99985 5.74 0 Cytosol;Centriolar satellite NA Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This phosphodiesterase catalyzes the specific hydrolysis of cGMP to 5'-GMP (PubMed:9714779, PubMed:15489334). Specifically regulates nitric-oxide-generated cGMP (PubMed:15489334). Phosphorylation is regulated by binding of cGMP to the two allosteric sites (By similarity). Phosphorylation by PRKG1 leads to its activation.;PDE5A is phosphorylated by PRKG1 Belongs to the cyclic nucleotide phosphodiesterase family. Purine metabolism; 3',5'-cyclic GMP degradation; GMP from 3',5'-cyclic GMP: step 1/1.;Purine metabolism;cGMP effects PE1 4 +NX_O76075 DNA fragmentation factor subunit beta 338 39110 9.2 0 Nucleoplasm;Nucleolus;Cytoplasm;Nucleus NA Nuclease that induces DNA fragmentation and chromatin condensation during apoptosis. Degrades naked DNA and induces apoptotic morphology. NA NA Apoptosis;Apoptosis induced DNA fragmentation PE1 1 +NX_O76076 WNT1-inducible-signaling pathway protein 2 250 26825 8.32 0 Secreted NA May play an important role in modulating bone turnover. Promotes the adhesion of osteoblast cells and inhibits the binding of fibrinogen to integrin receptors. In addition, inhibits osteocalcin production. NA Belongs to the CCN family. NA PE1 20 +NX_O76080 AN1-type zinc finger protein 5 213 23132 8.86 0 Cytoplasm;Nucleoplasm;Cytosol NA Involved in protein degradation via the ubiquitin-proteasome system. May act by anchoring ubiquitinated proteins to the proteasome. Plays a role in ubiquitin-mediated protein degradation during muscle atrophy. Plays a role in the regulation of NF-kappa-B activation and apoptosis. Inhibits NF-kappa-B activation triggered by overexpression of RIPK1 and TRAF6 but not of RELA. Inhibits also tumor necrosis factor (TNF), IL-1 and TLR4-induced NF-kappa-B activation in a dose-dependent manner. Overexpression sensitizes cells to TNF-induced apoptosis. Is a potent inhibitory factor for osteoclast differentiation. NA NA NA PE1 9 +NX_O76081 Regulator of G-protein signaling 20 388 43692 6.48 0 Membrane;Cytoplasm;Nucleus NA Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds selectively to G(z)-alpha and G(alpha)-i2 subunits, accelerates their GTPase activity and regulates their signaling activities. The G(z)-alpha activity is inhibited by the phosphorylation and palmitoylation of the G-protein. Negatively regulates mu-opioid receptor-mediated activation of the G-proteins (By similarity). Sumoylated with SUMO1 and SUMO2 in synaptosomes. The sumoylated forms act as a scaffold for sequestering mu-opioid receptor-activated G(alpha) subunits (By similarity).;N- and O-glycosylated in synapsomal membranes.;Serine phosphorylated in synapsomal membranes.;Fatty acylated. Heavily palmitoylated in the cysteine string motif (By similarity). NA G alpha (i) signalling events;G alpha (z) signalling events PE1 8 +NX_O76082 Solute carrier family 22 member 5 557 62752 8.07 12 Membrane;Mitochondrion Systemic primary carnitine deficiency Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3. NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. Import of palmitoyl-CoA into the mitochondrial matrix;Organic cation transport;Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) PE1 5 +NX_O76083 High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A 593 68493 5.85 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Sarcolemma;Endoplasmic reticulum;Ruffle membrane;Cytoplasmic vesicle;Perinuclear region NA Specifically hydrolyzes the second messenger cGMP, which is a key regulator of many important physiological processes. Highly specific: compared to other members of the cyclic nucleotide phosphodiesterase family, has the highest affinity and selectivity for cGMP (PubMed:9624146, PubMed:18757755, PubMed:21483814). Specifically regulates natriuretic-peptide-dependent cGMP signaling in heart, acting as a regulator of cardiac hypertrophy in myocytes and muscle. Does not regulate nitric oxide-dependent cGMP in heart (PubMed:25799991). Additional experiments are required to confirm whether its ability to hydrolyze natriuretic-peptide-dependent cGMP is specific to heart or is a general feature of the protein (Probable). In brain, involved in cognitive function, such as learning and long-term memory (By similarity). NA Belongs to the cyclic nucleotide phosphodiesterase family. PDE9 subfamily. Purine metabolism; 3',5'-cyclic GMP degradation; GMP from 3',5'-cyclic GMP: step 1/1.;Purine metabolism;cGMP effects PE1 21 +NX_O76087 G antigen 7 117 12978 4.3 0 NA NA NA NA Belongs to the GAGE family. NA PE2 X +NX_O76090 Bestrophin-1 585 67684 6.43 4 Basolateral cell membrane;Cell membrane Bestrophinopathy, autosomal recessive;Macular dystrophy, vitelliform, 2;Retinitis pigmentosa 50;Vitreoretinochoroidopathy, autosomal dominant Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate. Phosphorylated by PP2A. Belongs to the bestrophin family. Stimuli-sensing channels PE1 11 +NX_O76093 Fibroblast growth factor 18 207 23989 9.86 0 Secreted NA Plays an important role in the regulation of cell proliferation, cell differentiation and cell migration. Required for normal ossification and bone development. Stimulates hepatic and intestinal proliferation. NA Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;Signaling by activated point mutants of FGFR3;FGFR4 ligand binding and activation;FGFR3c ligand binding and activation;FGFR2c ligand binding and activation;FGFR3 mutant receptor activation;Activated point mutants of FGFR2;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade, FGFR2;Phospholipase C-mediated cascade, FGFR3;Phospholipase C-mediated cascade, FGFR4;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;SHC-mediated cascade:FGFR3;FRS-mediated FGFR3 signaling;PI-3K cascade:FGFR3;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;PI-3K cascade:FGFR4;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Signaling by FGFR2 in disease;FGFR3b ligand binding and activation;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;FGFRL1 modulation of FGFR1 signaling;Signaling by FGFR3 point mutants in cancer PE1 5 +NX_O76094 Signal recognition particle subunit SRP72 671 74606 9.31 0 Endoplasmic reticulum;Cytoplasm Bone marrow failure syndrome 1 Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. Binds the 7S RNA only in presence of SRP68. This ribonucleoprotein complex might interact directly with the docking protein in the ER membrane and possibly participate in the elongation arrest function. NA Belongs to the SRP72 family. Protein export;SRP-dependent cotranslational protein targeting to membrane PE1 4 +NX_O76095 Protein JTB 146 16358 8.67 1 Cytoplasm;Mitochondrion;Membrane;Centrosome;Cytoplasmic vesicle;Spindle;Cytoskeleton NA Required for normal cytokinesis during mitosis. Plays a role in the regulation of cell proliferation. May be a component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Increases AURKB activity. Inhibits apoptosis induced by TGFB1 (By similarity). Overexpression induces swelling of mitochondria and reduces mitochondrial membrane potential (By similarity). NA Belongs to the JTB family. NA PE1 1 +NX_O76096 Cystatin-F 145 16454 8.82 0 Cytoplasm;Secreted NA Inhibits papain and cathepsin L but with affinities lower than other cystatins. May play a role in immune regulation through inhibition of a unique target in the hematopoietic system. NA Belongs to the cystatin family. NA PE1 20 +NX_O76099 Olfactory receptor 7C1 320 35519 7.55 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 19 +NX_O76100 Olfactory receptor 7A10 309 34406 8.02 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 19 +NX_O77932 Decapping and exoribonuclease protein 396 44929 7.6 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA Ribonuclease that specifically degrades pre-mRNAs with a defective 5' end cap and is part of a pre-mRNA capping quality control. Has decapping, pyrophosphohydrolase and 5'-3' exonuclease activities. Has decapping activity toward incomplete 5' end cap mRNAs such as unmethylated 5' end-capped RNA to release GpppN and 5' end monophosphate RNA. The 5' end monophosphate RNA is then degraded by the 5'-3' exoribonuclease activity, enabling this enzyme to decap and degrade incompletely capped mRNAs. Also possesses RNA 5'-pyrophosphohydrolase activity by hydrolyzing the 5' end triphosphate to release pyrophosphates (By similarity). NA Belongs to the DXO/Dom3Z family. NA PE1 6 +NX_O94759 Transient receptor potential cation channel subfamily M member 2 1503 171198 7.27 6 Cell membrane;Perikaryon;Cell projection;Nucleus membrane;Lysosome;Cytoplasmic vesicle NA Lacks cation channel activity and negatively regulates the channel activity of isoform 1. Negatively regulates susceptibility to cell death in reposponse to oxidative stress.;Nonselective, voltage-independent cation channel that mediates Na(+) and Ca(2+) influx, leading to increased cytoplasmic Ca(2+) levels (PubMed:11960981, PubMed:12594222, PubMed:11385575, PubMed:11509734, PubMed:11804595, PubMed:15561722, PubMed:16601673, PubMed:19171771, PubMed:20660597, PubMed:25620041, PubMed:27383051, PubMed:27068538, PubMed:28775320, PubMed:29745897, PubMed:30467180). Functions as ligand-gated ion channel (PubMed:19171771, PubMed:25620041, PubMed:28775320, PubMed:30467180). Binding of ADP-ribose to the cytoplasmic Nudix domain causes a conformation change; the channel is primed but still requires Ca(2+) binding to trigger channel opening (PubMed:19171771, PubMed:25620041, PubMed:28775320, PubMed:29745897, PubMed:30467180). Extracellular calcium passes through the channel and increases channel activity (PubMed:19171771). Contributes to Ca(2+) release from intracellular stores in response to ADP-ribose (PubMed:19454650). Plays a role in numerous processes that involve signaling via intracellular Ca(2+) levels (Probable). Besides, mediates the release of lysosomal Zn(2+) stores in response to reactive oxygen species, leading to increased cytosolic Zn(2+) levels (PubMed:25562606, PubMed:27068538). Activated by moderate heat (35 to 40 degrees Celsius) (PubMed:16601673). Activated by intracellular ADP-ribose, beta-NAD (NAD(+)) and similar compounds, and by oxidative stress caused by reactive oxygen or nitrogen species (PubMed:11960981, PubMed:11385575, PubMed:11509734, PubMed:11804595, PubMed:15561722, PubMed:16601673, PubMed:19171771, PubMed:25620041, PubMed:27383051, PubMed:27068538, PubMed:30467180). The precise physiological activators are under debate; the true, physiological activators may be ADP-ribose and ADP-ribose-2'-phosphate (PubMed:20650899, PubMed:25918360). Activation by ADP-ribose and beta-NAD is strongly increased by moderate heat (35 to 40 degrees Celsius) (PubMed:16601673). Likewise, reactive oxygen species lower the threshold for activation by moderate heat (37 degrees Celsius) (PubMed:22493272). Plays a role in mediating behavorial and physiological responses to moderate heat and thereby contributes to body temperature homeostasis. Plays a role in insulin secretion, a process that requires increased cytoplasmic Ca(2+) levels (By similarity). Required for normal IFNG and cytokine secretion and normal innate immune immunity in response to bacterial infection. Required for normal phagocytosis and cytokine release by macrophages exposed to zymosan (in vitro). Plays a role in dendritic cell differentiation and maturation, and in dendritic cell chemotaxis via its role in regulating cytoplasmic Ca(2+) levels (By similarity). Plays a role in the regulation of the reorganization of the actin cytoskeleton and filopodia formation in response to reactive oxygen species via its role in increasing cytoplasmic Ca(2+) and Zn(2+) levels (PubMed:27068538). Confers susceptibility to cell death following oxidative stress (PubMed:12594222, PubMed:25562606).;Lacks cation channel activity. Does not mediate cation transport in response to oxidative stress or ADP-ribose. NA Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM2 sub-subfamily. TRP channels;Neutrophil degranulation PE1 21 +NX_O94760 N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 285 31122 5.53 0 Cytosol;Nucleolus;Cell membrane NA Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) and N(G)-monomethyl-L-arginine (MMA) which act as inhibitors of NOS. Has therefore a role in the regulation of nitric oxide generation. NA Belongs to the DDAH family. eNOS activation PE1 1 +NX_O94761 ATP-dependent DNA helicase Q4 1208 133067 8.45 0 Nucleoplasm;Cytoplasm;Nucleus Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome DNA-dependent ATPase. May modulate chromosome segregation. NA Belongs to the helicase family. RecQ subfamily. NA PE1 8 +NX_O94762 ATP-dependent DNA helicase Q5 991 108858 8.86 0 Nucleoplasm;Cytosol;Cytoplasm NA Is a DNA helicase that plays an important role in DNA replication, transcription and repair. Inhibits elongation of stalled transcripts at DNA damage sites by binding to the RNA polymerase II subunit POLR2A and blocking the TCEA1 binding site. Required for mitotic chromosome separation after cross-over events and cell cycle progress. Required for efficient DNA repair, including repair of inter-strand cross-links. Stimulates DNA decatenation mediated by TOP2A. Prevents sister chromatid exchange and homologous recombination. NA Belongs to the helicase family. RecQ subfamily. NA PE1 17 +NX_O94763 Unconventional prefoldin RPB5 interactor 1 535 59832 4.92 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cytosol;Dendrite;Nucleus NA Involved in gene transcription regulation. Acts as a transcriptional repressor in concert with the corepressor UXT to regulate androgen receptor (AR) transcription. May act as a tumor suppressor to repress AR-mediated gene transcription and to inhibit anchorage-independent growth in prostate cancer cells. Required for cell survival in ovarian cancer cells. Together with UXT, associates with chromatin to the NKX3-1 promoter region. Antagonizes transcriptional modulation via hepatitis B virus X protein.;Plays a central role in maintaining S6K1 signaling and BAD phosphorylation under normal growth conditions thereby protecting cells from potential deleterious effects of sustained S6K1 signaling. The URI1-PPP1CC complex acts as a central component of a negative feedback mechanism that counteracts excessive S6K1 survival signaling to BAD in response to growth factors. Mediates inhibition of PPP1CC phosphatase activity in mitochondria. Coordinates the regulation of nutrient-sensitive gene expression availability in a mTOR-dependent manner. Seems to be a scaffolding protein able to assemble a prefoldin-like complex that contains PFDs and proteins with roles in transcription and ubiquitination. Phosphorylated. Phosphorylation occurs essentially on serine residues. Phosphorylation occurs in response to androgen treatment in prostate cancer cells in a mTOR-dependent manner. Phosphorylated; hyperhosphorylated in mitochondria in a mTORC-dependent signaling pathway. Phosphorylated at Ser-372 by RPS6KB1 in a growth factor- and rapamycin-dependent manner. S6K1-mediated mitochondrial phosphorylation at Ser-372 disrupts the URI1-PPP1CC complex in the mitochondrion, relieves PPP1CC phosphatase inhibition activity and hence engages a negative feedback diminishing RPS6KB1 kinase activity, preventing sustained S6K1-dependent signaling. Belongs to the RNA polymerase II subunit 5-mediating protein family. NA PE1 19 +NX_O94766 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 335 37122 8.4 1 cis-Golgi network;Golgi apparatus membrane Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects Glycosaminoglycans biosynthesis (PubMed:25893793). Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA) during completion of linkage region formation (PubMed:24425863). N-glycosylated. Belongs to the glycosyltransferase 43 family. Protein modification; protein glycosylation.;Glycosaminoglycan biosynthesis - chondroitin sulfate;Glycosaminoglycan biosynthesis - heparan sulfate;Metabolic pathways;A tetrasaccharide linker sequence is required for GAG synthesis;Defective B3GAT3 causes JDSSDHD PE1 11 +NX_O94768 Serine/threonine-protein kinase 17B 372 42344 5.13 0 Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;Nucleus;Cell membrane NA Phosphorylates myosin light chains (By similarity). Acts as a positive regulator of apoptosis. Autophosphorylated.;STK17B is phosphorylated by PRKD2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. DAP kinase subfamily. NA PE1 2 +NX_O94769 Extracellular matrix protein 2 699 79789 5.3 0 Extracellular matrix NA Promotes matrix assembly and cell adhesiveness. NA Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class I subfamily. NA PE1 9 +NX_O94772 Lymphocyte antigen 6H 140 14669 6.91 0 Cell membrane NA Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits alpha-3:beta-4-containing nAChRs maximum response. May play a role in the intracellular trafficking of alpha-7-containing nAChRs and may inhibit their expression at the cell surface. Seems to inhibit alpha-7/CHRNA7 signaling in hippocampal neurons. NA NA Post-translational modification: synthesis of GPI-anchored proteins PE1 8 +NX_O94776 Metastasis-associated protein MTA2 668 75023 9.7 0 Nucleoplasm;Nucleus NA May be involved in the regulation of gene expression as repressor and activator. The repression might be related to covalent modification of histone proteins. NA NA RNA Polymerase I Transcription Initiation;HDACs deacetylate histones;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Regulation of TP53 Activity through Acetylation;Regulation of PTEN gene transcription PE1 11 +NX_O94777 Dolichol phosphate-mannose biosynthesis regulatory protein 84 9312 9.82 2 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1U Regulates the biosynthesis of dolichol phosphate-mannose. Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization and stable expression of DPM1. When associated with the GPI-GlcNAc transferase (GPI-GnT) complex enhances but is not essential for its activity. NA Belongs to the DPM2 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Synthesis of glycosylphosphatidylinositol (GPI);Synthesis of dolichyl-phosphate mannose;Defective DPM2 causes DPM2-CDG (CDG-1u);Defective DPM1 causes DPM1-CDG (CDG-1e);Defective DPM3 causes DPM3-CDG (CDG-1o) PE1 9 +NX_O94778 Aquaporin-8 261 27381 6.41 6 Mitochondrion membrane NA Forms a water-specific channel; mercury-sensitive. Not permeable to glycerol or urea. NA Belongs to the MIP/aquaporin (TC 1.A.8) family. Bile secretion;Detoxification of Reactive Oxygen Species;Passive transport by Aquaporins PE1 16 +NX_O94779 Contactin-5 1100 120686 5.99 0 Cell membrane NA Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity in the cerebral cortical neurons but not in hippocampal neurons. Probably involved in neuronal activity in the auditory system (By similarity). NA Belongs to the immunoglobulin superfamily. Contactin family. Post-translational modification: synthesis of GPI-anchored proteins PE1 11 +NX_O94782 Ubiquitin carboxyl-terminal hydrolase 1 785 88207 5.37 0 Nucleoplasm;Nucleus NA Negative regulator of DNA damage repair which specifically deubiquitinates monoubiquitinated FANCD2 (PubMed:15694335). Also involved in PCNA-mediated translesion synthesis (TLS) by deubiquitinating monoubiquitinated PCNA (PubMed:16531995). Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity (PubMed:18082604, PubMed:26388029). Ubiquitinated; leading to its subsequent proteasomal degradation.;Autocatalytic cleavage of USP1 following UV irradiation inactivates it leading to an increase in ubiquitinated PCNA, recruitment of POLH and translesion synthesis. Belongs to the peptidase C19 family. Fanconi anemia pathway;Recognition of DNA damage by PCNA-containing replication complex;Fanconi Anemia Pathway PE1 1 +NX_O94788 Retinal dehydrogenase 2 518 56724 5.79 0 Cytoplasm NA Converts retinaldehyde to retinoic acid (PubMed:29240402). Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Can metabolize octanal and decanal, but has only very low activity with benzaldehyde, acetaldehyde and propanal. Displays complete lack of activity with citral (By similarity). NA Belongs to the aldehyde dehydrogenase family. Cofactor metabolism; retinol metabolism.;Retinol metabolism;Metabolic pathways;RA biosynthesis pathway PE1 15 +NX_O94804 Serine/threonine-protein kinase 10 968 112135 6.52 0 Nucleoplasm;Cell membrane Testicular germ cell tumor Serine/threonine-protein kinase involved in regulation of lymphocyte migration. Phosphorylates MSN, and possibly PLK1. Involved in regulation of lymphocyte migration by mediating phosphorylation of ERM proteins such as MSN. Acts as a negative regulator of MAP3K1/MEKK1. May also act as a cell cycle regulator by acting as a polo kinase kinase: mediates phosphorylation of PLK1 in vitro; however such data require additional evidences in vivo. Autophosphorylates following homodimerization, leading to activation of the protein.;Autophosphorylated Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. Neutrophil degranulation PE1 5 +NX_O94805 Actin-like protein 6B 426 46877 5.48 0 Nucleolus;Nucleus Intellectual developmental disorder with severe speech and ambulation defects;Epileptic encephalopathy, early infantile, 76 Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex), as such plays a role in remodeling mononucleosomes in an ATP-dependent fashion, and is required for postmitotic neural development and dendritic outgrowth. During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. ACTL6B/BAF53B is not essential for assembly of the nBAF complex but is required for targeting the complex and CREST to the promoter of genes essential for dendritic growth (By similarity). Essential for neuronal maturation and dendrite development (PubMed:31031012). NA Belongs to the actin family. RMTs methylate histone arginines;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 7 +NX_O94806 Serine/threonine-protein kinase D3 890 100471 6.42 0 Membrane;Cytoplasm;Cytosol;Nucleoplasm NA Converts transient diacylglycerol (DAG) signals into prolonged physiological effects, downstream of PKC. Involved in resistance to oxidative stress (By similarity). NA Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. PKD subfamily. Sphingolipid de novo biosynthesis PE1 2 +NX_O94808 Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 682 76931 7.03 0 Cytoplasmic vesicle NA Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. NA NA Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; alpha-D-glucosamine 6-phosphate from D-fructose 6-phosphate: step 1/1.;Alanine, aspartate and glutamate metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Synthesis of UDP-N-acetyl-glucosamine PE1 5 +NX_O94810 Regulator of G-protein signaling 11 467 52946 8.99 0 NA NA Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. NA NA G alpha (i) signalling events;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding PE1 16 +NX_O94811 Tubulin polymerization-promoting protein 219 23694 9.48 0 Cytoplasm;Mitochondrion;Cytosol;Nucleus;Cytoskeleton NA May play a role in the polymerization of tubulin into microtubules, microtubule bundling and the stabilization of existing microtubules, thus maintaining the integrity of the microtubule network. May play a role in mitotic spindle assembly and nuclear envelope breakdown. Poor substrate for GSK3 (By similarity). Phosphorylated by LIMK1 on serine residues. Phosphorylation may alter the tubulin polymerization activity.;TPPP is phosphorylated by LIMK1 (Phosphoserine:PTM-0253) Belongs to the TPPP family. NA PE1 5 +NX_O94812 BAI1-associated protein 3 1187 131901 5.95 0 Cell membrane;trans-Golgi network membrane;Recycling endosome membrane;Cytosol;Late endosome membrane NA Functions in endosome to Golgi retrograde transport. In response to calcium influx, may interact with SNARE fusion receptors and membrane phospholipids to mediate endosome fusion with the trans-Golgi network. By promoting the recycling of secretory vesicle transmembrane proteins, it indirectly controls dense-core secretory vesicle biogenesis, maturation and their ability to mediate the constitutive and regulated secretion of neurotransmitters and hormones. May regulate behavior and food intake by controlling calcium-stimulated exocytosis of neurotransmitters including NPY and serotonin and hormones like insulin (PubMed:28626000). Proposed to play a role in hypothalamic neuronal firing by modulating gamma-aminobutyric acid (GABA)ergic inhibitory neurotransmission (By similarity). NA Belongs to the unc-13 family. NA PE1 16 +NX_O94813 Slit homolog 2 protein 1529 169870 6.8 0 Secreted NA Thought to act as molecular guidance cue in cellular migration, and function appears to be mediated by interaction with roundabout homolog receptors. During neural development involved in axonal navigation at the ventral midline of the neural tube and projection of axons to different regions. SLIT1 and SLIT2 seem to be essential for midline guidance in the forebrain by acting as repulsive signal preventing inappropriate midline crossing by axons projecting from the olfactory bulb. In spinal chord development may play a role in guiding commissural axons once they reached the floor plate by modulating the response to netrin. In vitro, silences the attractive effect of NTN1 but not its growth-stimulatory effect and silencing requires the formation of a ROBO1-DCC complex. May be implicated in spinal chord midline post-crossing axon repulsion. In vitro, only commissural axons that crossed the midline responded to SLIT2. In the developing visual system appears to function as repellent for retinal ganglion axons by providing a repulsion that directs these axons along their appropriate paths prior to, and after passage through, the optic chiasm. In vitro, collapses and repels retinal ganglion cell growth cones. Seems to play a role in branching and arborization of CNS sensory axons, and in neuronal cell migration. In vitro, Slit homolog 2 protein N-product, but not Slit homolog 2 protein C-product, repels olfactory bulb (OB) but not dorsal root ganglia (DRG) axons, induces OB growth cones collapse and induces branching of DRG axons. Seems to be involved in regulating leukocyte migration. NA NA Axon guidance;Netrin-1 signaling;Signaling by ROBO receptors;Activation of RAC1;Inactivation of CDC42 and RAC1;Role of ABL in ROBO-SLIT signaling;Regulation of commissural axon pathfinding by SLIT and ROBO;Regulation of expression of SLITs and ROBOs;SLIT2:ROBO1 increases RHOA activity PE1 4 +NX_O94817 Ubiquitin-like protein ATG12 140 15113 5.01 0 Cytoplasm;Preautophagosomal structure membrane NA Ubiquitin-like protein involved in autophagy vesicles formation. Conjugation with ATG5 through a ubiquitin-like conjugating system involving also ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes.;(Microbial infection) May act as a proviral factor. In association with ATG5, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for the initiation of HCV replication, but not required once infection is established (PubMed:19666601). Acetylated by EP300. Belongs to the ATG12 family. Regulation of autophagy;RIG-I-like receptor signaling pathway;Macroautophagy;Negative regulators of DDX58/IFIH1 signaling;Pink/Parkin Mediated Mitophagy;Receptor Mediated Mitophagy PE1 5 +NX_O94818 Nucleolar protein 4 638 71357 5.42 0 Nucleoplasm;Nucleolus NA NA NA NA NA PE1 18 +NX_O94819 Kelch repeat and BTB domain-containing protein 11 623 65720 5.78 0 Cytoskeleton NA NA NA NA NA PE1 8 +NX_O94822 E3 ubiquitin-protein ligase listerin 1766 200552 5.89 0 Cytosol NA E3 ubiquitin-protein ligase component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates ubiquitination and extraction of incompletely synthesized nascent chains for proteasomal degradation (PubMed:23685075, PubMed:25132172, PubMed:25578875). Ubiquitination leads to VCP/p97 recruitment for extraction and degradation of the incomplete translation product (By similarity). Autoubiquitinated. Belongs to the LTN1 family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 21 +NX_O94823 Probable phospholipid-transporting ATPase VB 1461 165391 6.46 10 Cytoplasmic vesicle membrane;Endoplasmic reticulum membrane NA Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. Ion transport by P-type ATPases PE1 5 +NX_O94826 Mitochondrial import receptor subunit TOM70 608 67455 6.75 1 Mitochondrion outer membrane;Mitochondrion;Cell membrane NA Receptor that accelerates the import of all mitochondrial precursor proteins. NA Belongs to the Tom70 family. Mitochondrial protein import;Pink/Parkin Mediated Mitophagy;Ub-specific processing proteases PE1 3 +NX_O94827 Pleckstrin homology domain-containing family G member 5 1062 117451 5.93 0 Cytoplasm;Cell membrane;Cell junction;Nucleoplasm;Lamellipodium;Perinuclear region Distal spinal muscular atrophy, autosomal recessive, 4;Charcot-Marie-Tooth disease, recessive, intermediate type, C Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons (By similarity). Involved in the control of neuronal cell differentiation (PubMed:11704860). Plays a role in angiogenesis through regulation of endothelial cells chemotaxis. Affects also the migration, adhesion, and matrix/bone degradation in macrophages and osteoclasts (PubMed:23777631). NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 1 +NX_O94829 Importin-13 963 108195 5.15 0 Cytoplasm;Nucleus NA Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Mediates the nuclear import of UBC9, the RBM8A/MAGOH complex, PAX6 and probably other members of the paired homeobox family. Also mediates nuclear export of eIF-1A, and the cytoplasmic release of eIF-1A is triggered by the loading of import substrates onto IPO13. NA Belongs to the importin beta family. NA PE1 1 +NX_O94830 Phospholipase DDHD2 711 81032 5.23 0 cis-Golgi network;Cytosol;Centriolar satellite;Endoplasmic reticulum-Golgi intermediate compartment Spastic paraplegia 54, autosomal recessive Phospholipase that hydrolyzes preferentially phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid, and phosphatidylethanolamine. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P), phosphatidylinositol 5-phosphate (PI(5)P) and possibly phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2). May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures. May regulate the transport between Golgi apparatus and plasma membrane. NA Belongs to the PA-PLA1 family. Synthesis of PA PE1 8 +NX_O94832 Unconventional myosin-Id 1006 116202 9.44 0 Cytoplasm;Cell cortex;Early endosome;Perikaryon;Cytosol;Dendrite NA Unconventional myosin that functions as actin-based motor protein with ATPase activity (By similarity). Plays a role in endosomal protein trafficking, and especially in the transfer of cargo proteins from early to recycling endosomes (By similarity). Required for normal planar cell polarity in ciliated tracheal cells, for normal rotational polarity of cilia, and for coordinated, unidirectional ciliary movement in the trachea. Required for normal, polarized cilia organization in brain ependymal epithelial cells (By similarity). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. NA PE1 17 +NX_O94842 TOX high mobility group box family member 4 621 66195 4.92 0 Nucleoplasm;Nucleolus;Nucleus;Cytoplasmic vesicle NA Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. NA NA NA PE1 14 +NX_O94844 Rho-related BTB domain-containing protein 1 696 79417 6.42 0 Nucleoplasm;Cytosol NA NA NA Belongs to the small GTPase superfamily. Rho family. Ubiquitin mediated proteolysis;Rho GTPase cycle PE1 10 +NX_O94850 Dendrin 711 75996 10.18 0 Cytoplasm;Endoplasmic reticulum membrane;Dendritic spine membrane;Perikaryon;Nucleoplasm;Cytosol;Nucleus NA Promotes apoptosis of kidney glomerular podocytes. Podocytes are highly specialized cells essential to the ultrafiltration of blood, resulting in the extraction of urine and the retention of protein (By similarity). NA NA NA PE1 12 +NX_O94851 [F-actin]-monooxygenase MICAL2 1124 126689 8.9 0 Nucleus NA Nuclear monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization (PubMed:24440334). In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2) (By similarity). Acts as a key regulator of the SRF signaling pathway elicited by nerve growth factor and serum: mediates oxidation and subsequent depolymerization of nuclear actin, leading to increase MKL1/MRTF-A presence in the nucleus and promote SRF:MKL1/MRTF-A-dependent gene transcription. Does not activate SRF:MKL1/MRTF-A through RhoA (PubMed:24440334). NA Belongs to the Mical family. NA PE1 11 +NX_O94854 Uncharacterized protein KIAA0754 1291 135148 4.14 0 Cell junction;Cytoskeleton;Cell membrane NA NA NA NA NA PE1 1 +NX_O94855 Protein transport protein Sec24D 1032 113010 6.91 0 COPII-coated vesicle membrane;Cytosol;Endoplasmic reticulum membrane;Cytoplasmic vesicle Cole-Carpenter syndrome 2 Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:17499046, PubMed:20427317, PubMed:18843296). Plays a central role in cargo selection within the COPII complex and together with SEC24C may have a different specificity compared to SEC24A and SEC24B (PubMed:17499046, PubMed:20427317, PubMed:18843296). May more specifically package GPI-anchored proteins through the cargo receptor TMED10 (PubMed:20427317). May also be specific for IxM motif-containing cargos like the SNAREs GOSR2 and STX5 (PubMed:18843296). NA Belongs to the SEC23/SEC24 family. SEC24 subfamily. Protein processing in endoplasmic reticulum;MHC class II antigen presentation;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;Regulation of cholesterol biosynthesis by SREBP (SREBF);COPII-mediated vesicle transport;Cargo concentration in the ER PE1 4 +NX_O94856 Neurofascin 1347 150027 6.24 1 Cell membrane NA Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions. NA Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family. Cell adhesion molecules (CAMs);Interaction between L1 and Ankyrins;Neurofascin interactions;Neutrophil degranulation PE1 1 +NX_O94864 STAGA complex 65 subunit gamma 414 46193 5.01 0 Nucleoplasm;Nucleus NA NA Sumoylated. NA HATs acetylate histones PE1 2 +NX_O94868 F-BAR and double SH3 domains protein 2 740 84276 5.55 0 Cytoplasm;Nucleus speckle;Cell membrane;Cell junction;Focal adhesion;Clathrin-coated pit;Stereocilium;Cytoskeleton NA Adapter protein that plays a role in endocytosis via clathrin-coated pits. Contributes to the internalization of cell surface receptors, such as integrin ITGB1 and transferrin receptor (PubMed:29887380). Promotes endocytosis of EGFR in cancer cells, and thereby contributes to the down-regulation of EGFR signaling (PubMed:30249660). Recruited to clathrin-coated pits during a mid-to-late stage of assembly, where it is required for normal progress from U-shaped intermediate stage pits to terminal, omega-shaped pits (PubMed:29887380). Binds to membranes enriched in phosphatidylinositol 3,4-bisphosphate or phosphatidylinositol 3,4,5-trisphosphate (PubMed:29887380). When bound to membranes, promotes actin polymerization via its interaction with WAS and/or WASL which leads to the activation of the Arp2/3 complex. Does not promote actin polymerisation in the absence of membranes (PubMed:29887380). Phosphorylated. Phosphorylation on a Ser residue is important for recruitment to the cell membrane and for its role in promoting endocytosis. NA NA PE1 11 +NX_O94874 E3 UFM1-protein ligase 1 794 89595 6.35 0 Endoplasmic reticulum;Cytosol NA E3 protein ligase that mediates ufmylation, the covalent attachment of the ubiquitin-like modifier UFM1 to substrate proteins, a post-translational modification on lysine residues of proteins that may play a crucial role in a number of cellular processes. Mediates DDRGK1 ufmylation and may regulate the proteasomal degradation of DDRGK1 and CDK5RAP3 thereby modulating NF-kappa-B signaling (PubMed:20018847, PubMed:20164180, PubMed:20228063, PubMed:25219498). May also play a role in nuclear receptor-mediated transcription through TRIP4 ufmylation (PubMed:25219498). May play a role in the unfolded protein response, mediating the ufmylation of multiple proteins in response to endoplasmic reticulum stress (PubMed:23152784). Anchors CDK5RAP3 in the cytoplasm, preventing its translocation to the nucleus which allows expression of the CCND1 cyclin and progression of cells through the G1/S transition (PubMed:20531390). Ubiquitinated, leading to its degradation by the proteasome. Interaction with CDK5RAP3 protects both proteins against ubiquitination and degradation via the proteasome. Belongs to the UFL1 family. Antigen processing: Ubiquitination & Proteasome degradation PE1 6 +NX_O94875 Sorbin and SH3 domain-containing protein 2 1100 124108 8.56 0 Apical cell membrane;Lamellipodium;Focal adhesion;Perinuclear region NA Increases water and sodium absorption in the intestine and gall-bladder.;Adapter protein that plays a role in the assembling of signaling complexes, being a link between ABL kinases and actin cytoskeleton. Can form complex with ABL1 and CBL, thus promoting ubiquitination and degradation of ABL1. May play a role in the regulation of pancreatic cell adhesion, possibly by acting on WASF1 phosphorylation, enhancing phosphorylation by ABL1, as well as dephosphorylation by PTPN12 (PubMed:18559503). Ubiquitinated by CBL.;Dephosphorylated by PTPN12.;SORBS2 is phosphorylated by ABL1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA NA PE1 4 +NX_O94876 Transmembrane and coiled-coil domains protein 1 653 72083 6.12 2 Endoplasmic reticulum membrane NA Endoplasmic reticulum membrane protein that promotes endoplasmic reticulum-associated endosome fission (PubMed:30220460). Localizes to contact sites between the endoplasmic reticulum and endosomes and acts by promoting recruitment of the endoplasmic reticulum to endosome tubules for fission (PubMed:30220460). Endosome membrane fission of early and late endosomes is essential to separate regions destined for lysosomal degradation from carriers to be recycled to the plasma membrane (PubMed:30220460). NA Belongs to the TEX28 family. NA PE1 3 +NX_O94880 PHD finger protein 14 888 100053 5.22 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol NA NA NA NA NA PE1 7 +NX_O94885 SAM and SH3 domain-containing protein 1 1247 136653 5.78 0 Nucleoplasm;Cytosol;Cytoplasm Dyschromatosis universalis hereditaria 1;Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma Is a positive regulator of NF-kappa-B signaling downstream of TLR4 activation. It acts as a scaffold molecule to assemble a molecular complex that includes TRAF6, MAP3K7, CHUK and IKBKB, thereby facilitating NF-kappa-B signaling activation (PubMed:23776175). Regulates TRAF6 and MAP3K7 ubiquitination (PubMed:23776175). Involved in the regulation of cell mobility (PubMed:23333244, PubMed:23776175, PubMed:25315659). Regulates lipolysaccharide (LPS)-induced endothelial cell migration (PubMed:23776175). Is involved in the regulation of skin pigmentation through the control of melanocyte migration in the epidermis (PubMed:23333244). NA NA NA PE1 6 +NX_O94886 CSC1-like protein 1 807 92126 6.98 10 Cytoplasmic vesicle;Lysosome membrane;Centriolar satellite NA Acts as an osmosensitive calcium-permeable cation channel. NA Belongs to the CSC1 (TC 1.A.17) family. Neutrophil degranulation PE1 1 +NX_O94887 FERM, ARHGEF and pleckstrin domain-containing protein 2 1054 119888 8.96 0 Cytosol NA Functions as guanine nucleotide exchange factor that activates RAC1. May have relatively low activity. Plays a role in the response to class 3 semaphorins and remodeling of the actin cytoskeleton. Plays a role in TNFSF11-mediated osteoclast differentiation, especially in podosome rearrangement and reorganization of the actin cytoskeleton. Regulates the activation of ITGB3, integrin signaling and cell adhesion (By similarity). NA NA Adherens junction;SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion PE1 2 +NX_O94888 UBX domain-containing protein 7 489 54862 5.06 0 Nucleoplasm;Nucleus NA Ubiquitin-binding adapter that links a subset of NEDD8-associated cullin ring ligases (CRLs) to the segregase VCP/p97, to regulate turnover of their ubiquitination substrates. NA NA Neddylation PE1 3 +NX_O94889 Kelch-like protein 18 574 63638 5.36 0 Cytoplasm;Nucleoplasm;Nucleus NA Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis (PubMed:23213400). The BCR(KLHL18) E3 ubiquitin ligase complex mediates the ubiquitination of AURKA leading to its activation at the centrosome which is required for initiating mitotic entry (PubMed:23213400). NA NA Protein modification; protein ubiquitination. PE1 3 +NX_O94892 Zinc finger protein 432 652 74836 9.04 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_O94898 Leucine-rich repeats and immunoglobulin-like domains protein 2 1065 118965 5.35 1 Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane Urofacial syndrome 2 NA NA NA NA PE1 1 +NX_O94900 Thymocyte selection-associated high mobility group box protein TOX 526 57513 6.85 0 Nucleoplasm;Nucleolus;Nucleus NA May play a role in regulating T-cell development. NA NA NA PE1 8 +NX_O94901 SUN domain-containing protein 1 812 90064 6.61 1 Cytoplasm;Nucleus membrane;Nucleus inner membrane NA As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton (PubMed:18039933, PubMed:18396275). The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning (By similarity). Required for interkinetic nuclear migration (INM) and essential for nucleokinesis and centrosome-nucleus coupling during radial neuronal migration in the cerebral cortex and during glial migration (By similarity). Involved in telomere attachment to nuclear envelope in the prophase of meiosis implicating a SUN1/2:KASH5 LINC complex in which SUN1 and SUN2 seem to act at least partial redundantly (By similarity). Required for gametogenesis and involved in selective gene expression of coding and non-coding RNAs needed for gametogenesis (By similarity). Helps to define the distribution of nuclear pore complexes (NPCs) (By similarity). Required for efficient localization of SYNE4 in the nuclear envelope (By similarity). May be involved in nuclear remodeling during sperm head formation in spermatogenenis (By similarity). May play a role in DNA repair by suppressing non-homologous end joining repair to facilitate the repair of DNA cross-links (PubMed:24375709). The disulfid bond with KASH domain containing nesprins is required for stability of the respective LINC complexes under tensile forces. NA Meiotic synapsis PE1 7 +NX_O94903 Pyridoxal phosphate homeostasis protein 275 30344 7.09 0 Cytoplasm;Cytosol;Nucleus Epilepsy, early-onset, vitamin B6-dependent Pyridoxal 5'-phosphate (PLP)-binding protein, which may be involved in intracellular homeostatic regulation of pyridoxal 5'-phosphate (PLP), the active form of vitamin B6. NA Belongs to the pyridoxal phosphate-binding protein YggS/PROSC family. NA PE1 8 +NX_O94905 Erlin-2 339 37840 5.47 1 Endoplasmic reticulum;Endoplasmic reticulum membrane Spastic paraplegia 18, autosomal recessive Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1 (PubMed:19240031, PubMed:17502376). Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex (PubMed:21343306). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex (PubMed:24217618). NA Belongs to the band 7/mec-2 family. Signaling by FGFR1 in disease;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;Signaling by plasma membrane FGFR1 fusions PE1 8 +NX_O94906 Pre-mRNA-processing factor 6 941 106925 8.49 0 Nucleoplasm;Nucleus speckle Retinitis pigmentosa 60 Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:28781166, PubMed:21549338). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation. NA NA Spliceosome;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway PE1 20 +NX_O94907 Dickkopf-related protein 1 266 28672 8.8 0 Secreted NA Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6 (PubMed:22000856). DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (PubMed:17143291). Inhibits the pro-apoptotic function of KREMEN1 in a Wnt-independent manner, and has anti-apoptotic activity (By similarity). NA Belongs to the dickkopf family. Wnt signaling pathway;TCF dependent signaling in response to WNT;Negative regulation of TCF-dependent signaling by WNT ligand antagonists;Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling PE1 10 +NX_O94910 Adhesion G protein-coupled receptor L1 1474 162717 6.17 7 Presynaptic cell membrane;Synaptosome;Cell membrane;Growth cone;Synapse;Axon NA Calcium-independent receptor of high affinity for alpha-latrotoxin, an excitatory neurotoxin present in black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells. Receptor for TENM2 that mediates heterophilic synaptic cell-cell contact and postsynaptic specialization. Receptor probably implicated in the regulation of exocytosis (By similarity). Autoproteolytically cleaved into 2 subunits, an extracellular subunit and a seven-transmembrane subunit. This proteolytic processing takes place early in the biosynthetic pathway, either in the endoplasmic reticulum or in the early compartment of the Golgi apparatus (By similarity). Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE1 19 +NX_O94911 ATP-binding cassette sub-family A member 8 1581 179245 6.81 14 Nucleoplasm;Cytosol;Cell membrane NA ATP-dependent lipophilic drug transporter. NA Belongs to the ABC transporter superfamily. ABCA family. ABC transporters;ABC-family proteins mediated transport PE1 17 +NX_O94913 Pre-mRNA cleavage complex 2 protein Pcf11 1555 173050 8.65 0 Nucleoplasm;Mitochondrion;Nucleus NA Component of pre-mRNA cleavage complex II. NA NA mRNA surveillance pathway;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Processing of Intronless Pre-mRNAs;RNA polymerase II transcribes snRNA genes;RNA Polymerase II Transcription Termination PE1 11 +NX_O94915 Protein furry homolog-like 3013 339598 5.36 0 Cytosol;Cytoskeleton NA Plays a key role in maintaining the integrity of polarized cell extensions during morphogenesis, regulates the actin cytoskeleton and plays a key role in patterning sensory neuron dendritic fields by promoting avoidance between homologous dendrites as well as by limiting dendritic branching (By similarity). May function as a transcriptional activator. NA Belongs to the furry protein family. NA PE1 4 +NX_O94916 Nuclear factor of activated T-cells 5 1531 165763 5.12 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Transcription factor involved, among others, in the transcriptional regulation of osmoprotective and inflammatory genes. Mediates the transcriptional response to hypertonicity (PubMed:10051678). Positively regulates the transcription of LCN2 and S100A4 genes; optimal transactivation of these genes requires the presence of DDX5/DDX17 (PubMed:22266867). Binds the DNA consensus sequence 5'-[ACT][AG]TGGAAA[CAT]A[TA][ATC][CA][ATG][GT][GAC][CG][CT]-3' (PubMed:10377394). Phosphorylated (PubMed:10377394). Phosphorylated at Thr-135 by CDK5 in response to osmotic stress; this phosphorylation mediates its rapid nuclear localization (PubMed:21209322). NA Wnt signaling pathway;Axon guidance;VEGF signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;HTLV-I infection PE1 16 +NX_O94919 Endonuclease domain-containing 1 protein 500 55017 5.55 0 Secreted;Nucleus membrane NA May act as a DNase and a RNase. NA Belongs to the DNA/RNA non-specific endonuclease family. Platelet degranulation PE1 11 +NX_O94921 Cyclin-dependent kinase 14 469 53057 9.06 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Serine/threonine-protein kinase involved in the control of the eukaryotic cell cycle, whose activity is controlled by an associated cyclin. Acts as a cell-cycle regulator of Wnt signaling pathway during G2/M phase by mediating the phosphorylation of LRP6 at 'Ser-1490', leading to the activation of the Wnt signaling pathway. Acts as a regulator of cell cycle progression and cell proliferation via its interaction with CCDN3. Phosphorylates RB1 in vitro, however the relevance of such result remains to be confirmed in vivo. May also play a role in meiosis, neuron differentiation and may indirectly act as a negative regulator of insulin-responsive glucose transport. NA Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. NA PE1 7 +NX_O94923 D-glucuronyl C5-epimerase 617 70101 9.04 1 Mitochondrion;Golgi apparatus membrane NA Converts D-glucuronic acid residues adjacent to N-sulfate sugar residues to L-iduronic acid residues, both in maturing heparan sulfate (HS) and heparin chains. This is important for further modifications that determine the specificity of interactions between these glycosaminoglycans and proteins. NA Belongs to the D-glucuronyl C5-epimerase family. Glycan metabolism; heparin biosynthesis.;Glycan metabolism; heparan sulfate biosynthesis.;Glycosaminoglycan biosynthesis - heparan sulfate;Metabolic pathways;HS-GAG biosynthesis PE1 15 +NX_O94925 Glutaminase kidney isoform, mitochondrial 669 73461 7.85 0 Mitochondrion matrix;Mitochondrion;Cytosol Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development;Global developmental delay, progressive ataxia, and elevated glutamine;Epileptic encephalopathy, early infantile, 71 Lacks catalytic activity.;Catalyzes the first reaction in the primary pathway for the renal catabolism of glutamine. Plays a role in maintaining acid-base homeostasis. Regulates the levels of the neurotransmitter glutamate, the main excitatory neurotransmitter in the brain (PubMed:30575854, PubMed:30239721, PubMed:30970188). Synthesized as a 74-kDa cytosolic precursor which is proteolytically processed by the mitochondrial-processing peptidase (MPP) via a 72-kDa intermediate to yield the mature mitochondrial 68- and 65-kDa subunits. Belongs to the glutaminase family. Alanine, aspartate and glutamate metabolism;Arginine and proline metabolism;D-Glutamine and D-glutamate metabolism;Nitrogen metabolism;Metabolic pathways;Glutamatergic synapse;GABAergic synapse;Proximal tubule bicarbonate reclamation;TP53 Regulates Metabolic Genes;Glutamate Neurotransmitter Release Cycle;Glutamate and glutamine metabolism PE1 2 +NX_O94927 HAUS augmin-like complex subunit 5 633 71682 8.83 0 Spindle;Centrosome NA Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. NA Belongs to the HAUS5 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 19 +NX_O94929 Actin-binding LIM protein 3 683 77802 8.86 0 Cytoplasm;Nucleoplasm;Cell junction;Cell membrane NA May act as scaffold protein. May stimulate ABRA activity and ABRA-dependent SRF transcriptional activity. NA NA Axon guidance;DCC mediated attractive signaling PE1 5 +NX_O94933 SLIT and NTRK-like protein 3 977 108934 7.03 1 Membrane;Mitochondrion NA Suppresses neurite outgrowth. NA Belongs to the SLITRK family. Receptor-type tyrosine-protein phosphatases PE1 3 +NX_O94941 RING finger protein 37 541 58966 7.53 0 Nucleoplasm;Nucleus NA May have a ubiquitin-protein ligase activity acting as an E3 ubiquitin-protein ligase or as a ubiquitin-ubiquitin ligase promoting elongation of ubiquitin chains on substrates. NA NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation PE1 20 +NX_O94952 F-box only protein 21 628 72270 5.73 0 Mitochondrion NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 12 +NX_O94953 Lysine-specific demethylase 4B 1096 121897 6.72 0 Nucleoplasm;Cytosol;Nucleus NA Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27', H3 'Lys-36' nor H4 'Lys-20'. Only able to demethylate trimethylated H3 'Lys-9', with a weaker activity than KDM4A, KDM4C and KDM4D. Demethylation of Lys residue generates formaldehyde and succinate. NA Belongs to the JHDM3 histone demethylase family. HDMs demethylate histones;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Estrogen-dependent gene expression PE1 19 +NX_O94955 Rho-related BTB domain-containing protein 3 611 69413 7.72 0 Golgi apparatus;Cytoplasmic vesicle NA Rab9-regulated ATPase required for endosome to Golgi transport. Involved in transport vesicle docking at the Golgi complex, possibly by participating in release M6PRBP1/TIP47 from vesicles to permit their efficient docking and fusion at the Golgi. Specifically binds Rab9, but not other Rab proteins. Has low intrinsic ATPase activity due to autoinhibition, which is relieved by Rab9. NA NA Retrograde transport at the Trans-Golgi-Network PE1 5 +NX_O94956 Solute carrier organic anion transporter family member 2B1 709 76711 8.7 12 Cell membrane NA Mediates the Na(+)-independent transport of organic anions such as taurocholate, the prostaglandins PGD2, PGE1, PGE2, leukotriene C4, thromboxane B2 and iloprost. NA Belongs to the organo anion transporter (TC 2.A.60) family. Transport of organic anions PE1 11 +NX_O94964 Protein SOGA1 1423 159760 6.08 0 Cytosol;Secreted;Nucleolus NA Regulates autophagy by playing a role in the reduction of glucose production in an adiponectin- and insulin-dependent manner. Proteolytically cleaved in primary hepatocytes into a C-terminal 80 kDa form (By similarity). Proteolytically cleaved into a C-terminal SOGA 25 kDa form that is detected in plasma. Belongs to the SOGA family. NA PE1 20 +NX_O94966 Ubiquitin carboxyl-terminal hydrolase 19 1318 145651 5.89 1 Endoplasmic reticulum membrane NA Deubiquitinating enzyme that regulates the degradation of various proteins. Deubiquitinates and prevents proteasomal degradation of RNF123 which in turn stimulates CDKN1B ubiquitin-dependent degradation thereby playing a role in cell proliferation. Involved in decreased protein synthesis in atrophying skeletal muscle. Modulates transcription of major myofibrillar proteins. Also involved in turnover of endoplasmic-reticulum-associated degradation (ERAD) substrates. Regulates the stability of BIRC2/c-IAP1 and BIRC3/c-IAP2 by preventing their ubiquitination. Required for cells to mount an appropriate response to hypoxia and rescues HIF1A from degradation in a non-catalytic manner. Plays an important role in 17 beta-estradiol (E2)-inhibited myogenesis. Decreases the levels of ubiquitinated proteins during skeletal muscle formation and acts to repress myogenesis. Exhibits a preference towards 'Lys-63'-linked ubiquitin chains. NA Belongs to the peptidase C19 family. Ub-specific processing proteases PE1 3 +NX_O94967 WD repeat-containing protein 47 919 101949 5.59 0 Nucleoplasm;Cytoskeleton NA NA NA NA NA PE1 1 +NX_O94972 E3 ubiquitin-protein ligase TRIM37 964 107906 5.04 0 Peroxisome;Perinuclear region Mulibrey nanism E3 ubiquitin-protein ligase required to prevent centriole reduplication (PubMed:15885686, PubMed:23769972). Probably acts by ubiquitinating positive regulators of centriole reduplication (PubMed:23769972). Mediates monoubiquitination of 'Lys-119' of histone H2A (H2AK119Ub), a specific tag for epigenetic transcriptional repression: associates with some Polycomb group (PcG) multiprotein PRC2-like complex and mediates repression of target genes (PubMed:25470042). Has anti-HIV activity (PubMed:24317724). Auto-ubiquitinated. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation PE1 17 +NX_O94973 AP-2 complex subunit alpha-2 939 103960 6.53 0 Cytoplasmic vesicle;Coated pit;Nucleoplasm;Cell membrane NA Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). The AP-2 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity). NA Belongs to the adaptor complexes large subunit family. Endocytosis;Synaptic vesicle cycle;Endocrine and other factor-regulated calcium reabsorption;Huntington's disease;MHC class II antigen presentation;EPH-ephrin mediated repulsion of cells;Retrograde neurotrophin signalling;Recycling pathway of L1;Nef Mediated CD8 Down-regulation;WNT5A-dependent internalization of FZD4;Nef Mediated CD4 Down-regulation;Trafficking of GluR2-containing AMPA receptors;WNT5A-dependent internalization of FZD2, FZD5 and ROR2;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;VLDLR internalisation and degradation;Neutrophil degranulation;LDL clearance PE1 11 +NX_O94979 Protein transport protein Sec31A 1220 133015 6.43 0 Cytoplasm;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Cytoplasmic vesicle;Cytosol NA Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER) (PubMed:10788476). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules (By similarity). Monoubiquitinated by the BCR(KLHL12) E3 ubiquitin ligase complex, leading to regulate the size of COPII coats. Belongs to the WD repeat SEC31 family. Protein processing in endoplasmic reticulum;MHC class II antigen presentation;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;XBP1(S) activates chaperone genes;COPII-mediated vesicle transport PE1 4 +NX_O94983 Calmodulin-binding transcription activator 2 1202 131530 6.92 0 Nucleoplasm;Mitochondrion;Nucleus;Cytoskeleton NA Transcription activator. May act as tumor suppressor. NA Belongs to the CAMTA family. NA PE1 17 +NX_O94985 Calsyntenin-1 981 109793 4.81 1 Endoplasmic reticulum membrane;Postsynaptic cell membrane;Golgi apparatus membrane;Neuron projection;Nucleus NA Induces KLC1 association with vesicles and functions as a cargo in axonal anterograde transport. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation. In complex with APBA2 and C99, a C-terminal APP fragment, abolishes C99 interaction with PSEN1 and thus APP C99 cleavage by gamma-secretase, most probably through stabilization of the direct interaction between APBA2 and APP. The intracellular fragment AlcICD suppresses APBB1-dependent transactivation stimulated by APP C-terminal intracellular fragment (AICD), most probably by competing with AICD for APBB1-binding. May modulate calcium-mediated postsynaptic signals (By similarity). Proteolytically processed under normal cellular conditions. A primary zeta-cleavage generates a large extracellular (soluble) N-terminal domain (sAlc) and a short C-terminal transmembrane fragment (CTF1). A secondary cleavage catalyzed by presenilin gamma-secretase within the transmembrane domain releases the beta-Alc-alpha chain in the extracellular milieu and produces an intracellular fragment (AlcICD). This processing is strongly suppressed in the tripartite complex formed with APBA2 and APP, which seems to prevent the association with PSEN1. NA NA PE1 1 +NX_O94986 Centrosomal protein of 152 kDa 1710 195626 5.45 0 Centrosome;Centriole Microcephaly 9, primary, autosomal recessive;Seckel syndrome 5 Necessary for centrosome duplication; the function seems also to involve CEP63, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806). Acts as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, 2 molecules involved in centriole formation (PubMed:21059844, PubMed:20852615). Proposed to snatch PLK4 away from PLK4:CEP92 complexes in early G1 daughter centriole and to reposition PLK4 at the outer boundary of a newly forming CEP152 ring structure (PubMed:24997597). Also plays a key role in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles (By similarity). Overexpression of CEP152 can drive amplification of centrioles (PubMed:20852615). NA Belongs to the CEP152 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 15 +NX_O94988 Protein FAM13A 1023 116932 6.07 0 Cytosol;Cell junction;Nucleolus NA NA NA Belongs to the FAM13 family. Rho GTPase cycle PE1 4 +NX_O94989 Rho guanine nucleotide exchange factor 15 841 91940 8.61 0 Dendrite;Cell membrane NA Specific GEF for RhoA activation. Does not activate RAC1 or CDC42. Regulates vascular smooth muscle contractility. Negatively regulates excitatory synapse development by suppressing the synapse-promoting activity of EPHB2. Ubiquitinated; UBE3A-mediated ubiquitination and degradation by the proteasome promotes EFNB1-dependent synapse formation.;Phosphorylated on tyrosine residues upon EFNA1 stimulation. EPHB2-dependent phosphorylation at Tyr-353 triggers UBE3A-mediated ubiquitination (By similarity). NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 17 +NX_O94991 SLIT and NTRK-like protein 5 958 107486 6.48 1 Membrane;Golgi apparatus;Nucleoplasm NA Suppresses neurite outgrowth. NA Belongs to the SLITRK family. Receptor-type tyrosine-protein phosphatases PE1 13 +NX_O94992 Protein HEXIM1 359 40623 4.84 0 Cytoplasm;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Transcriptional regulator which functions as a general RNA polymerase II transcription inhibitor (PubMed:14580347, PubMed:15713661, PubMed:15201869). In cooperation with 7SK snRNA sequesters P-TEFb in a large inactive 7SK snRNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation (PubMed:12832472, PubMed:14580347, PubMed:15713661, PubMed:15201869). May also regulate NF-kappa-B, ESR1, NR3C1 and CIITA-dependent transcriptional activity (PubMed:15940264, PubMed:15941832, PubMed:17088550). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728). NA Belongs to the HEXIM family. NA PE1 17 +NX_O94993 Transcription factor SOX-30 753 81854 6.92 0 Nucleus NA Transcriptional activator. Binds to the DNA sequence 5'-ACAAT-3' and shows a preference for guanine residues surrounding this core motif. NA NA NA PE1 5 +NX_O95006 Olfactory receptor 2F2 317 35294 8.66 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 7 +NX_O95007 Olfactory receptor 6B1 311 35299 8.82 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 7 +NX_O95013 Olfactory receptor 4F21 312 35094 9.03 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 8 +NX_O95025 Semaphorin-3D 777 89651 7.94 0 Golgi apparatus;Secreted;Cell membrane NA Induces the collapse and paralysis of neuronal growth cones. Could potentially act as repulsive cues toward specific neuronal populations. Binds to neuropilin (By similarity). NA Belongs to the semaphorin family. Axon guidance PE1 7 +NX_O95045 Uridine phosphorylase 2 317 35527 6.21 0 Nucleoplasm;Mitochondrion;Cytoplasmic vesicle NA Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis. Shows substrate specificity and accept uridine, deoxyuridine, and thymidine as well as the two pyrimidine nucleoside analogs 5-fluorouridine and 5-fluoro-2(')-deoxyuridine as substrates. NA Belongs to the PNP/UDP phosphorylase family. Pyrimidine metabolism; UMP biosynthesis via salvage pathway; uracil from uridine (phosphorylase route): step 1/1.;Pyrimidine metabolism;Drug metabolism - other enzymes;Metabolic pathways;Pyrimidine catabolism;Pyrimidine salvage PE1 2 +NX_O95047 Olfactory receptor 2A4 310 34802 9.18 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 6 +NX_O95049 Tight junction protein ZO-3 919 101397 6.29 0 Cell membrane;Cell junction;Nucleoplasm;Tight junction;Nucleus NA TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton (PubMed:16129888). The tight junction acts to limit movement of substances through the paracellular space and as a boundary between the compositionally distinct apical and basolateral plasma membrane domains of epithelial and endothelial cells. Binds and recruits PATJ to tight junctions where it connects and stabilizes apical and lateral components of tight junctions (PubMed:16129888). Promotes cell-cycle progression through the sequestration of cyclin D1 (CCND1) at tight junctions during mitosis which prevents CCND1 degradation during M-phase and enables S-phase transition (PubMed:21411630). With TJP1 and TJP2, participates to the junctional retention and stability of the transcription factor DBPA, but is not involved in its shuttling to the nucleus (By similarity). Contrary to TJP2, TJP3 is dispensable for individual viability, embryonic development, epithelial differentiation, and the establishment of TJs, at least in the laboratory environment (By similarity). Phosphorylated (By similarity). Belongs to the MAGUK family. Tight junction PE1 19 +NX_O95050 Indolethylamine N-methyltransferase 263 28891 5.15 0 Golgi apparatus;Cytoplasm;Cytoplasmic vesicle NA Functions as thioether S-methyltransferase and is active with a variety of thioethers and the corresponding selenium and tellurium compounds, including 3-methylthiopropionaldehyde, dimethyl selenide, dimethyl telluride, 2-methylthioethylamine, 2-methylthioethanol, methyl-n-propyl sulfide and diethyl sulfide. Plays an important role in the detoxification of selenium compounds (By similarity). Catalyzes the N-methylation of tryptamine and structurally related compounds. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. NNMT/PNMT/TEMT family. Tryptophan metabolism;Selenocompound metabolism;Methylation of MeSeH for excretion PE1 7 +NX_O95057 GTP-binding protein Di-Ras1 198 22329 8.94 0 Cell membrane NA Displays low GTPase activity and exists predominantly in the GTP-bound form. NA Belongs to the small GTPase superfamily. Di-Ras family. NA PE1 19 +NX_O95059 Ribonuclease P protein subunit p14 124 13693 7.62 0 Nucleoplasm;Cytosol;Nucleolus NA Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends. NA Belongs to the eukaryotic/archaeal RNase P protein component 2 family. RNA transport;tRNA processing in the nucleus;Major pathway of rRNA processing in the nucleolus and cytosol PE1 3 +NX_O95067 G2/mitotic-specific cyclin-B2 398 45282 9 0 Golgi apparatus;Cytosol;Cytoskeleton NA Essential for the control of the cell cycle at the G2/M (mitosis) transition. NA Belongs to the cyclin family. Cyclin AB subfamily. Cell cycle;Oocyte meiosis;p53 signaling pathway;Progesterone-mediated oocyte maturation;HTLV-I infection;Nuclear Pore Complex (NPC) Disassembly;Activation of NIMA Kinases NEK9, NEK6, NEK7;Regulation of PLK1 Activity at G2/M Transition;Resolution of Sister Chromatid Cohesion;Polo-like kinase mediated events;Cyclin A/B1/B2 associated events during G2/M transition;G2/M DNA replication checkpoint;Golgi Cisternae Pericentriolar Stack Reorganization;Condensation of Prometaphase Chromosomes;The role of GTSE1 in G2/M progression after G2 checkpoint PE1 15 +NX_O95069 Potassium channel subfamily K member 2 426 47093 8.46 4 Endoplasmic reticulum membrane;Cell membrane NA Does not display channel activity but reduces the channel activity of isoform 1 and isoform 2 and reduces cell surface expression of isoform 2.;Ion channel that contributes to passive transmembrane potassium transport (PubMed:23169818). Reversibly converts between a voltage-insensitive potassium leak channel and a voltage-dependent outward rectifying potassium channel in a phosphorylation-dependent manner (PubMed:11319556). In astrocytes, forms mostly heterodimeric potassium channels with KCNK1, with only a minor proportion of functional channels containing homodimeric KCNK2. In astrocytes, the heterodimer formed by KCNK1 and KCNK2 is required for rapid glutamate release in response to activation of G-protein coupled receptors, such as F2R and CNR1 (By similarity). Phosphorylation at Ser-348 controls the reversible conversion from a leak channel to a voltage-dependent channel. Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. Gastric acid secretion;TWIK related potassium channel (TREK);Phase 4 - resting membrane potential PE1 1 +NX_O95070 Protein YIF1A 293 32011 8.98 5 Golgi apparatus;Endoplasmic reticulum membrane;Centriolar satellite;Golgi apparatus membrane;Cytoplasmic vesicle NA Possible role in transport between endoplasmic reticulum and Golgi. NA Belongs to the YIF1 family. XBP1(S) activates chaperone genes PE1 11 +NX_O95071 E3 ubiquitin-protein ligase UBR5 2799 309352 5.59 0 Nucleoplasm;Cytosol;Nucleus NA E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (By similarity). Involved in maturation and/or transcriptional regulation of mRNA by activating CDK9 by polyubiquitination. May play a role in control of cell cycle progression. May have tumor suppressor function. Regulates DNA topoisomerase II binding protein (TopBP1) in the DNA damage response. Plays an essential role in extraembryonic development. Ubiquitinates acetylated PCK1. Also acts as a regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard against excessive spreading of ubiquitinated chromatin at damaged chromosomes. UBR5 is phosphorylated by MAPK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis PE1 8 +NX_O95072 Meiotic recombination protein REC8 homolog 547 62614 5 0 Nucleoplasm;Centromere;Nucleus;Chromosome NA Required during meiosis for separation of sister chromatids and homologous chromosomes. Proteolytic cleavage of REC8 on chromosome arms by separin during anaphase I allows for homologous chromosome separation in meiosis I and cleavage of REC8 on centromeres during anaphase II allows for sister chromatid separation in meiosis II (By similarity). Phosphorylated. Belongs to the rad21 family. Oocyte meiosis;Meiotic synapsis PE1 14 +NX_O95073 Fibrinogen silencer-binding protein 299 34768 6.62 0 Nucleoplasm;Nucleus NA Transcriptional repressor that down-regulates the expression of the fibrinogen gamma chain. Represses transcription of GSK3B gene promoter via its interaction with APBA1. NA NA Homologous recombination PE1 8 +NX_O95076 Homeobox protein aristaless-like 3 343 36935 8.81 0 Nucleus;Nucleolus Frontonasal dysplasia 1 Transcriptional regulator with a possible role in patterning of mesoderm during development. NA Belongs to the paired homeobox family. NA PE1 1 +NX_O95081 Arf-GAP domain and FG repeat-containing protein 2 481 48963 9.28 0 NA NA NA NA NA NA PE1 7 +NX_O95084 Serine protease 23 383 43001 9.48 0 Golgi apparatus;Secreted NA NA NA Belongs to the peptidase S1 family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 11 +NX_O95096 Homeobox protein Nkx-2.2 273 30133 7.81 0 Nucleus NA Transcriptional activator involved in the development of insulin-producting beta cells in the endocrine pancreas (By similarity). May also be involved in specifying diencephalic neuromeric boundaries, and in controlling the expression of genes that play a role in axonal guidance. Binds to elements within the NEUROD1 promoter (By similarity). NA Belongs to the NK-2 homeobox family. Maturity onset diabetes of the young;Regulation of gene expression in beta cells;Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells PE1 20 +NX_O95104 SR-related and CTD-associated factor 4 1147 125869 9.58 0 Nucleoplasm;Nucleus NA Anti-terminator protein required to prevent early mRNA termination during transcription (PubMed:31104839). Together with SCAF8, acts by suppressing the use of early, alternative poly(A) sites, thereby preventing the accumulation of non-functional truncated proteins (PubMed:31104839). Mechanistically, associates with the phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit (POLR2A), and subsequently binds nascent RNA upstream of early polyadenylation sites to prevent premature mRNA transcript cleavage and polyadenylation (PubMed:31104839). Independently of SCAF8, also acts as a suppressor of transcriptional readthrough (PubMed:31104839). NA NA NA PE1 21 +NX_O95125 Zinc finger protein 202 648 74720 5.63 0 Nucleolus;Nucleus NA Transcriptional repressor that binds to elements found predominantly in genes that participate in lipid metabolism. Among its targets are structural components of lipoprotein particles (apolipoproteins AIV, CIII, and E), enzymes involved in lipid processing (lipoprotein lipase, lecithin cholesteryl ester transferase), transporters involved in lipid homeostasis (ABCA1, ABCG1), and several genes involved in processes related to energy metabolism and vascular disease. NA NA Generic Transcription Pathway PE1 11 +NX_O95136 Sphingosine 1-phosphate receptor 2 353 38867 9.21 7 Golgi apparatus;Nucleus speckle;Cell membrane Deafness, autosomal recessive, 68 Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P) (PubMed:10617617). S1P is a bioactive lysophospholipid that elicits diverse physiological effects on most types of cells and tissues (PubMed:10617617). When expressed in rat HTC4 hepatoma cells, is capable of mediating S1P-induced cell proliferation and suppression of apoptosis (PubMed:10617617). Receptor for the chemokine-like protein FAM19A5 (PubMed:29453251). Mediates the inhibitory effect of FAM19A5 on vascular smooth muscle cell proliferation and migration (By similarity). NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Lysosphingolipid and LPA receptors PE1 19 +NX_O95139 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 128 15489 9.63 1 Mitochondrion inner membrane;Mitochondrion NA Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFB6 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 9 +NX_O95140 Mitofusin-2 757 86402 6.52 2 Mitochondrion outer membrane Charcot-Marie-Tooth disease 2A2B;Charcot-Marie-Tooth disease 2A2A;Neuropathy, hereditary motor and sensory, 6A Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:11181170, PubMed:11950885, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed:28114303). Overexpression induces the formation of mitochondrial networks (PubMed:28114303). Membrane clustering requires GTPase activity and may involve a major rearrangement of the coiled coil domains (Probable). Plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes (By similarity). Plays an important role in the regulation of vascular smooth muscle cell proliferation (By similarity). Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) (PubMed:23620051). Is required for PRKN recruitment to dysfunctional mitochondria (PubMed:23620051). Involved in the control of unfolded protein response (UPR) upon ER stress including activation of apoptosis and autophagy during ER stress (By similarity). Acts as an upstream regulator of EIF2AK3 and suppresses EIF2AK3 activation under basal conditions (By similarity). Phosphorylated by PINK1.;Ubiquitinated by non-degradative ubiquitin by PRKN, promoting mitochondrial fusion; deubiquitination by USP30 inhibits mitochondrial fusion. Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. Mitofusin subfamily. Factors involved in megakaryocyte development and platelet production;Pink/Parkin Mediated Mitophagy PE1 1 +NX_O95147 Dual specificity protein phosphatase 14 198 22255 9.62 0 Nucleoplasm;Cytosol NA Involved in the inactivation of MAP kinases. Dephosphorylates ERK, JNK and p38 MAP-kinases. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. MAPK signaling pathway PE1 17 +NX_O95149 Snurportin-1 360 41143 6.17 0 Cytoplasm;Nucleus;Nucleus membrane NA Functions as an U snRNP-specific nuclear import adapter. Involved in the trimethylguanosine (m3G)-cap-dependent nuclear import of U snRNPs. Binds specifically to the terminal m3G-cap U snRNAs. NA Belongs to the snurportin family. RNA transport;snRNP Assembly PE1 15 +NX_O95150 Tumor necrosis factor ligand superfamily member 15 251 28087 6.31 1 Secreted;Nucleus membrane;Membrane;Nucleoplasm;Cytosol NA Receptor for TNFRSF25 and TNFRSF6B. Mediates activation of NF-kappa-B. Inhibits vascular endothelial growth and angiogenesis (in vitro). Promotes activation of caspases and apoptosis. NA Belongs to the tumor necrosis factor family. Cytokine-cytokine receptor interaction;TNFs bind their physiological receptors PE1 9 +NX_O95153 Peripheral-type benzodiazepine receptor-associated protein 1 1857 200051 5.05 0 Cytoplasm;Mitochondrion NA NA NA Belongs to the RIMBP family. Acetylcholine Neurotransmitter Release Cycle;Pregnenolone biosynthesis;Glutamate Neurotransmitter Release Cycle;Norepinephrine Neurotransmitter Release Cycle;Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle PE1 17 +NX_O95154 Aflatoxin B1 aldehyde reductase member 3 331 37206 6.67 0 Cytoplasm NA Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen. NA Belongs to the aldo/keto reductase family. Aldo/keto reductase 2 subfamily. Metabolism of xenobiotics by cytochrome P450;Aflatoxin activation and detoxification PE1 1 +NX_O95155 Ubiquitin conjugation factor E4 B 1302 146185 6.13 0 Cytoplasm;Nucleus NA Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases (By similarity). May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase (By similarity). May regulate myosin assembly in striated muscles together with STUB1 and VCP/p97 by targeting myosin chaperone UNC45B for proteasomal degradation (PubMed:17369820). Proteolytically cleaved by caspases during apoptosis. Cleaved efficiently at Asp-123 by caspase-6 and granzyme B. Cleaved with approximately 10-fold less efficiency at Asp-109 by caspase-3 and caspase-7. Belongs to the ubiquitin conjugation factor E4 family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum PE1 1 +NX_O95156 Neurexophilin-2 264 29938 8.95 0 Secreted NA May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors. May be proteolytically processed at the boundary between the N-terminal non-conserved and the central conserved domain in neuron-like cells. Belongs to the neurexophilin family. NA PE2 2 +NX_O95157 Neurexophilin-3 252 28127 8.82 0 Secreted NA May be signaling molecules that resemble neuropeptides. Ligand for alpha-neurexins (By similarity). May be proteolytically processed at the boundary between the N-terminal non-conserved and the central conserved domain in neuron-like cells. Belongs to the neurexophilin family. NA PE1 17 +NX_O95158 Neurexophilin-4 308 33065 9.89 0 Secreted NA May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors. May be proteolytically processed at the boundary between the N-terminal non-conserved and the central conserved domain in neuron-like cells. Belongs to the neurexophilin family. NA PE1 12 +NX_O95159 Zinc finger protein-like 1 310 34114 8.42 1 Golgi apparatus;cis-Golgi network membrane NA Required for cis-Golgi integrity and efficient ER to Golgi transport. Involved in the maintenance of the integrity of the cis-Golgi, possibly via its interaction with GOLGA2/GM130. Phosphorylated. Belongs to the ZFPL1 family. NA PE1 11 +NX_O95163 Elongator complex protein 1 1332 150254 5.61 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus Neuropathy, hereditary sensory and autonomic, 3 Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation (PubMed:11714725, PubMed:11818576). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244). Involved in neurogenesis (By similarity). Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity). May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK) (PubMed:9751059). NA Belongs to the ELP1/IKA1 family. tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis.;HATs acetylate histones PE1 9 +NX_O95164 Ubiquitin-like protein 3 117 13157 6.27 0 Cytoplasm;Centrosome;Nucleus;Cell membrane NA NA NA NA NA PE1 13 +NX_O95166 Gamma-aminobutyric acid receptor-associated protein 117 13918 8.73 0 Endomembrane system;Autophagosome;Golgi apparatus membrane;Cytoplasmic vesicle;Cytoskeleton NA Ubiquitin-like modifier that plays a role in intracellular transport of GABA(A) receptors and its interaction with the cytoskeleton. Involved in apoptosis. Involved in autophagy. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (PubMed:15977068). Through its interaction with the reticulophagy receptor TEX264, paticipates in the remodeling of subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover (PubMed:31006538). The precursor molecule is cleaved by ATG4B to form the cytosolic form, GABARAP-I. This is activated by APG7L/ATG7, transferred to ATG3 and conjugated to phospholipid to form the membrane-bound form, GABARAP-II. Belongs to the ATG8 family. Regulation of autophagy;GABAergic synapse;Macroautophagy;TBC/RABGAPs PE1 17 +NX_O95167 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 84 9279 8.01 1 Mitochondrion inner membrane NA Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFA3 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 19 +NX_O95168 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 129 15209 9.85 1 Mitochondrion inner membrane;Mitochondrion;Nucleus membrane NA Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFB4 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 3 +NX_O95169 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial 186 21766 6.29 1 Endoplasmic reticulum;Mitochondrion inner membrane;Mitochondrion Mitochondrial complex I deficiency, nuclear type 32 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFB8 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Mitochondrial protein import;Respiratory electron transport;Complex I biogenesis PE1 10 +NX_O95170 CMT1A duplicated region transcript 1 protein 752 85370 9.23 0 NA NA NA NA NA NA PE2 17 +NX_O95171 Sciellin 688 77552 9.42 0 Cytoplasm;Cell membrane;Membrane;Nucleoplasm;Cytosol NA May function in the assembly or regulation of proteins in the cornified envelope. The LIM domain may be involved in homotypic or heterotypic associations and may function to localize sciellin to the cornified envelope. NA NA NA PE1 13 +NX_O95177 Uncharacterized protein GAS8-AS1 125 12619 8.04 0 NA NA NA NA NA NA PE5 16 +NX_O95178 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial 105 12058 5.47 0 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion NA Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFB2 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 7 +NX_O95180 Voltage-dependent T-type calcium channel subunit alpha-1H 2353 259163 7.13 24 Cytoplasmic vesicle;Nucleoplasm;Cell membrane Hyperaldosteronism, familial, 4;Epilepsy, childhood absence 6;Epilepsy, idiopathic generalized 6 Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a voltage-dependent inactivation (PubMed:9670923, PubMed:9930755, PubMed:27149520). T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle (Probable). They may also be involved in the modulation of firing patterns of neurons (PubMed:15048902). In the adrenal zona glomerulosa, participates in the signaling pathway leading to aldosterone production in response to either AGT/angiotensin II, or hyperkalemia (PubMed:25907736, PubMed:27729216). In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II. Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1H subfamily. MAPK signaling pathway;Calcium signaling pathway;NCAM1 interactions PE1 16 +NX_O95182 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7 113 12551 10.19 0 Cytoplasm;Mitochondrion inner membrane;Mitochondrion;Cell membrane NA Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFA7 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 19 +NX_O95183 Vesicle-associated membrane protein 5 116 12805 7.7 1 Nucleoplasm;Endomembrane system;trans-Golgi network membrane;Cell membrane NA May participate in trafficking events that are associated with myogenesis, such as myoblast fusion and/or GLUT4 trafficking. (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type X (BoNT/X) which hydrolyzes the 40-Arg-|-Ser-41 bond and probably inhibits neurotransmitter release (PubMed:28770820). It remains unknown whether BoNT/X is ever produced, or what organisms it targets. Belongs to the synaptobrevin family. SNARE interactions in vesicular transport PE1 2 +NX_O95185 Netrin receptor UNC5C 931 103146 5.74 1 Synaptosome;Cell membrane;Growth cone;Cell surface;Lamellipodium;Filopodium;Axon;Dendrite Alzheimer disease Receptor for netrin required for axon guidance (By similarity). Mediates axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding (By similarity). NTN1/Netrin-1 binding might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion (PubMed:28483977). Axon repulsion in growth cones may also be caused by its association with DCC that may trigger signaling for repulsion (By similarity). Might also collaborate with DSCAM in NTN1-mediated axon repulsion independently of DCC (By similarity). Also involved in corticospinal tract axon guidance independently of DCC (By similarity). Involved in dorsal root ganglion axon projection towards the spinal cord (PubMed:28483977). It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand (By similarity). Proteolytically cleaved by caspases during apoptosis. The cleavage does not take place when the receptor is associated with netrin ligand. Its cleavage by caspases is required to induce apoptosis.;Phosphorylated on different cytoplasmic tyrosine residues. Phosphorylation of Tyr-568 leads to an interaction with PTPN11 phosphatase, suggesting that its activity is regulated by phosphorylation/dephosphorylation. Tyrosine phosphorylation is netrin-dependent. Belongs to the unc-5 family. Axon guidance;Netrin mediated repulsion signals PE1 4 +NX_O95190 Ornithine decarboxylase antizyme 2 189 21011 5.21 0 Golgi apparatus;Nucleus NA Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimers. Does not target the ODC monomers for degradation, which allows a protein synthesis-independent restoration of ODC activity (PubMed:17900240). Involved in the translocation of AZIN2 from ER-Golgi intermediate compartment (ERGIC) to the cytosol (By similarity). NA Belongs to the ODC antizyme family. Regulation of ornithine decarboxylase (ODC) PE1 15 +NX_O95196 Chondroitin sulfate proteoglycan 5 566 60016 4.39 1 Endoplasmic reticulum membrane;Mitochondrion;Cell membrane;Cell surface;Nucleoplasm;Golgi apparatus membrane NA May function as a growth and differentiation factor involved in neuritogenesis. May induce ERBB3 activation. N-glycosylated.;Phosphorylated; in intracellular and extracellular parts.;O-glycosylated; contains chondroitin sulfate glycans. Part-time proteoglycan, expressed in part as a proteoglycan exhibiting chondroitin sulfate glycans and in part as a non-proteoglycan form. The relative amount of both forms depends on tissues and tissues maturation (By similarity). NA Chondroitin sulfate biosynthesis;A tetrasaccharide linker sequence is required for GAG synthesis;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;Dermatan sulfate biosynthesis;CS/DS degradation;Defective CHST3 causes SEDCJD;Defective CHST14 causes EDS, musculocontractural type;Defective CHSY1 causes TPBS;Defective B3GALT6 causes EDSP2 and SEMDJL1 PE1 3 +NX_O95197 Reticulon-3 1032 112611 4.85 0 Endoplasmic reticulum;Endoplasmic reticulum membrane;Golgi apparatus membrane NA May be involved in membrane trafficking in the early secretory pathway. Inhibits BACE1 activity and amyloid precursor protein processing. May induce caspase-8 cascade and apoptosis. May favor BCL2 translocation to the mitochondria upon endoplasmic reticulum stress. In case of enteroviruses infection, RTN3 may be involved in the viral replication or pathogenesis. Induces the formation of endoplasmic reticulum tubules (PubMed:25612671). NA NA Synaptic adhesion-like molecules PE1 11 +NX_O95198 Kelch-like protein 2 593 65975 6.3 0 Cell projection;Nucleoplasm;Lamellipodium;Ruffle;Cytoplasmic vesicle;Cytosol;Cytoskeleton NA Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, such as NPTXR, leading most often to their proteasomal degradation (By similarity). Responsible for degradative ubiquitination of the WNK kinases WNK1, WNK3 and WNK4. Plays a role in the reorganization of the actin cytoskeleton. Promotes growth of cell projections in oligodendrocyte precursors. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 4 +NX_O95199 RCC1 and BTB domain-containing protein 2 551 60315 5.29 0 Golgi apparatus;Nucleoplasm;Acrosome NA NA NA NA NA PE1 13 +NX_O95201 Zinc finger protein 205 554 60630 8.88 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_O95202 Mitochondrial proton/calcium exchanger protein 739 83354 6.3 1 Mitochondrion inner membrane;Mitochondrion NA Mitochondrial proton/calcium antiporter that mediates proton-dependent calcium efflux from mitochondrion (PubMed:19797662). Crucial for the maintenance of mitochondrial tubular networks and for the assembly of the supercomplexes of the respiratory chain (PubMed:18628306). Required for the maintenance of the tubular shape and cristae organization (PubMed:18628306). In contrast to SLC8B1/NCLX, does not constitute the major factor for mitochondrial calcium extrusion (PubMed:24898248). NA Belongs to the LETM1 family. Mitochondrial calcium ion transport PE1 4 +NX_O95206 Protocadherin-8 1070 113019 5.35 1 Golgi apparatus;Presynaptic cell membrane;Cell membrane;Postsynaptic cell membrane;Cytosol;Dendrite NA Calcium-dependent cell-adhesion protein (By similarity). May play a role in activity-induced synaptic reorganization underlying long term memory (By similarity). Could be involved in CDH2 internalization through TAOK2/p38 MAPK pathway. In hippocampal neurons, may play a role in the down-regulation of dendritic spines, maybe through its action on CDH2 endocytosis (By similarity). NA NA NA PE1 13 +NX_O95208 Epsin-2 641 68482 7.11 0 Clathrin-coated vesicle;Cytoplasm;Cytoplasmic vesicle NA Plays a role in the formation of clathrin-coated invaginations and endocytosis. Ubiquitinated.;EPN2 is phosphorylated by MAPK3 Belongs to the epsin family. Endocytosis;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 17 +NX_O95210 Starch-binding domain-containing protein 1 358 39007 5.46 1 Cytosol;Preautophagosomal structure membrane;Endoplasmic reticulum membrane;T-tubule NA Acts as a cargo receptor for glycogen. Delivers its cargo to an autophagic pathway called glycophagy, resulting in the transport of glycogen to lysosomes. Ubiquitinated, which leads to proteasomal degradation. NA Neutrophil degranulation PE1 4 +NX_O95214 Leptin receptor overlapping transcript-like 1 131 14428 5.55 4 Membrane NA Negatively regulates growth hormone (GH) receptor cell surface expression in liver. May play a role in liver resistance to GH during periods of reduced nutrient availability. NA Belongs to the OB-RGRP/VPS55 family. NA PE1 8 +NX_O95218 Zinc finger Ran-binding domain-containing protein 2 330 37404 10.03 0 Nucleoplasm;Nucleus NA Splice factor required for alternative splicing of TRA2B/SFRS10 transcripts. May interfere with constitutive 5'-splice site selection. Is phosphorylated on Ser-310 upon DNA damage, probably by ATM or ATR. Belongs to the ZRANB2 family. NA PE1 1 +NX_O95219 Sorting nexin-4 450 51909 5.69 0 Early endosome membrane;Early endosome NA Involved in the regulation of endocytosis and in several stages of intracellular trafficking (PubMed:12668730). Plays a role in recycling endocytosed transferrin receptor and prevent its degradation. NA Belongs to the sorting nexin family. NA PE1 3 +NX_O95221 Olfactory receptor 5F1 314 35132 8.9 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_O95222 Olfactory receptor 6A2 327 36154 8.4 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_O95229 ZW10 interactor 277 31293 5.1 0 Kinetochore;Nucleoplasm;Cytosol;Nucleus NA Part of the MIS12 complex, which is required for kinetochore formation and spindle checkpoint activity. Required to target ZW10 to the kinetochore at prometaphase. NA NA Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 10 +NX_O95231 Homeobox protein VENTX 258 27552 9.74 0 Nucleus;Nucleolus;Cytosol NA May be involved in ventralization. NA NA NA PE1 10 +NX_O95232 Luc7-like protein 3 432 51466 9.81 0 Nucleus speckle NA Binds cAMP regulatory element DNA sequence. May play a role in RNA splicing. Phosphorylated in vitro by SRPK1, SRPK2 and CLK1. Belongs to the Luc7 family. NA PE1 17 +NX_O95235 Kinesin-like protein KIF20A 890 100278 6.49 0 Golgi apparatus;Cleavage furrow;Nucleoplasm;Spindle;Cytoskeleton NA Mitotic kinesin required for chromosome passenger complex (CPC)-mediated cytokinesis. Following phosphorylation by PLK1, involved in recruitment of PLK1 to the central spindle. Interacts with guanosine triphosphate (GTP)-bound forms of RAB6A and RAB6B. May act as a motor required for the retrograde RAB6 regulated transport of Golgi membranes and associated vesicles along microtubules. Has a microtubule plus end-directed motility. Phosphorylated by PLK1 at Ser-528 during mitosis, creating a docking site for PLK1 and recruiting PLK1 at central spindle. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. MHC class II antigen presentation;Kinesins;Mitotic Telophase/Cytokinesis;COPI-dependent Golgi-to-ER retrograde traffic PE1 5 +NX_O95236 Apolipoprotein L3 402 44278 8.4 0 Cytoplasm NA May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles. NA Belongs to the apolipoprotein L family. NA PE1 22 +NX_O95237 Lecithin retinol acyltransferase 230 25703 7.01 1 Golgi apparatus;Endoplasmic reticulum membrane;Rough endoplasmic reticulum;Endoplasmic reticulum;Perinuclear region;Multivesicular body Leber congenital amaurosis 14 Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters (PubMed:9920938). Retinyl esters are storage forms of vitamin A (Probable). LRAT plays a critical role in vision (Probable). It provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into 11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol is oxidized and converted into 11-cis-retinaldehyde which is the chromophore for rhodopsin and the cone photopigments (Probable). Required for the survival of cone photoreceptors and correct rod photoreceptor cell morphology (By similarity). NA Belongs to the H-rev107 family. Cofactor metabolism; retinol metabolism.;Retinol metabolism;Vitamin digestion and absorption;The canonical retinoid cycle in rods (twilight vision);Retinoid metabolism and transport;Retinoid cycle disease events PE1 4 +NX_O95238 SAM pointed domain-containing Ets transcription factor 335 37518 5.89 0 Nucleoplasm;Nucleolus;Nucleus NA May function as an androgen-independent transactivator of the prostate-specific antigen (PSA) promoter. Binds to 5'-GGAT-3' DNA sequences. May play a role in the regulation of the prostate gland and/or prostate cancer development. Acts as a transcriptional activator for SERPINB5 promoter. NA Belongs to the ETS family. NA PE1 6 +NX_O95239 Chromosome-associated kinesin KIF4A 1232 139881 5.99 0 Nucleus matrix;Spindle;Midbody;Chromosome Mental retardation, X-linked 100 Motor protein that translocates PRC1 to the plus ends of interdigitating spindle microtubules during the metaphase to anaphase transition, an essential step for the formation of an organized central spindle midzone and midbody and for successful cytokinesis. May play a role in mitotic chromosomal positioning and bipolar spindle stabilization. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Chromokinesin subfamily. MHC class II antigen presentation;Kinesins;Recycling pathway of L1;COPI-dependent Golgi-to-ER retrograde traffic PE1 X +NX_O95243 Methyl-CpG-binding domain protein 4 580 66051 9.01 0 Nucleus speckle;Nucleus NA Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein. NA NA Base excision repair;Displacement of DNA glycosylase by APEX1;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine PE1 3 +NX_O95248 Myotubularin-related protein 5 1868 208443 6.46 0 Cytoplasm;Perinuclear region;Nucleus Charcot-Marie-Tooth disease 4B3 Acts as an adapter for the phosphatase MTMR2 to regulate MTMR2 catalytic activity and subcellular location (PubMed:12668758). May function as a guanine nucleotide exchange factor (GEF) activating RAB28 (PubMed:20937701). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701). Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts (PubMed:9537414). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Synthesis of PIPs at the ER membrane;RAB GEFs exchange GTP for GDP on RABs PE1 22 +NX_O95249 Golgi SNAP receptor complex member 1 250 28613 9.46 1 Golgi apparatus membrane NA Involved in transport from the ER to the Golgi apparatus as well as in intra-Golgi transport. It belongs to a super-family of proteins called t-SNAREs or soluble NSF (N-ethylmaleimide-sensitive factor) attachment protein receptor. May play a protective role against hydrogen peroxide induced cytotoxicity under glutathione depleted conditions in neuronal cells by regulating the intracellular ROS levels via inhibition of p38 MAPK (MAPK11, MAPK12, MAPK13 and MAPK14). Participates in docking and fusion stage of ER to cis-Golgi transport. Plays an important physiological role in VLDL-transport vesicle-Golgi fusion and thus in VLDL delivery to the hepatic cis-Golgi. NA Belongs to the GOSR1 family. SNARE interactions in vesicular transport;Intra-Golgi traffic;COPI-mediated anterograde transport PE1 17 +NX_O95251 Histone acetyltransferase KAT7 611 70642 9.01 0 Nucleoplasm;Cytosol;Nucleus NA Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Involved in H3K14 (histone H3 lysine 14) acetylation and cell proliferation (By similarity). Through chromatin acetylation it may regulate DNA replication and act as a coactivator of TP53-dependent transcription. Acts as a coactivator of the licensing factor CDT1 (PubMed:18832067). Specifically represses AR-mediated transcription. Autoacetylation at Lys-432 is required for proper function.;Ubiquitinated at Lys-338, leading to proteasomal degradation.;Phosphorylation at Ser-57 by PLK1 during mitosis seems important for prereplicative complex formation and DNA replication licensing, and requires prior phosphorylation at Thr-85 and Thr-88 by CDK1 (PubMed:18250300). Phosphorylated by MAP2K1, which accelerates its degradation (By similarity). Belongs to the MYST (SAS/MOZ) family. HATs acetylate histones PE1 17 +NX_O95255 Multidrug resistance-associated protein 6 1503 164906 8.82 17 Basolateral cell membrane;Endoplasmic reticulum membrane;Cell membrane Arterial calcification of infancy, generalized, 2;Pseudoxanthoma elasticum May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS).;Inhibits TNF-alpha-mediated apoptosis through blocking one or more caspases. NA Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. ABC transporters;ABC-family proteins mediated transport;Defective ABCC6 causes pseudoxanthoma elasticum (PXE) PE1 16 +NX_O95256 Interleukin-18 receptor accessory protein 599 68310 8.67 1 Cell membrane NA Within the IL18 receptor complex, does not mediate IL18-binding, but involved in IL18-dependent signal transduction, leading to NF-kappa-B and JNK activation (PubMed:9792649, PubMed:14528293, PubMed:25500532). May play a role in IL18-mediated IFNG synthesis from T-helper 1 (Th1) cells (Probable). N-glycosylated. Belongs to the interleukin-1 receptor family. Cytokine-cytokine receptor interaction;Interleukin-18 signaling PE1 2 +NX_O95257 Growth arrest and DNA damage-inducible protein GADD45 gamma 159 17121 4.26 0 NA NA Involved in the regulation of growth and apoptosis. Mediates activation of stress-responsive MTK1/MEKK4 MAPKKK. NA Belongs to the GADD45 family. MAPK signaling pathway;Cell cycle;p53 signaling pathway PE1 9 +NX_O95258 Brain mitochondrial carrier protein 1 325 36202 9.66 6 Mitochondrion inner membrane;Mitochondrion NA Participates in the mitochondrial proton leak measured in brain mitochondria. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. The fatty acid cycling model;The proton buffering model PE1 X +NX_O95259 Potassium voltage-gated channel subfamily H member 1 989 111423 7.52 6 Presynaptic cell membrane;Cell membrane;Perikaryon;Nucleus inner membrane;Postsynaptic density;Early endosome membrane;Cytoplasmic vesicle;Axon;Dendrite Zimmermann-Laband syndrome 1;Temple-Baraitser syndrome Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel (PubMed:9738473, PubMed:11943152, PubMed:10880439, PubMed:22732247, PubMed:25556795, PubMed:27325704, PubMed:27005320, PubMed:27618660). Channel properties are modulated by subunit assembly (PubMed:11943152). Mediates IK(NI) current in myoblasts (PubMed:9738473). Involved in the regulation of cell proliferation and differentiation, in particular adipogenic and osteogenic differentiation in bone marrow-derived mesenchymal stem cells (MSCs) (PubMed:23881642). Channel activity is regulated via tyrosine phosphorylation/dephosphorylation by SRC and PTPN6 (PubMed:24587194). Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.1/KCNH1 sub-subfamily. Voltage gated Potassium channels PE1 1 +NX_O95260 Arginyl-tRNA--protein transferase 1 518 59090 8.17 0 Nucleoplasm;Cytoplasm;Nucleus NA Involved in the post-translational conjugation of arginine to the N-terminal aspartate or glutamate of a protein. This arginylation is required for degradation of the protein via the ubiquitin pathway. Does not arginylate cysteine residues (By similarity). NA Belongs to the R-transferase family. NA PE1 10 +NX_O95263 High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B 885 98979 6.35 0 Nucleoplasm;Cytosol Primary pigmented nodular adrenocortical disease 3;Striatal degeneration, autosomal dominant 1 Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in specific signaling in the thyroid gland. NA Belongs to the cyclic nucleotide phosphodiesterase family. PDE8 subfamily. Purine metabolism; 3',5'-cyclic AMP degradation; AMP from 3',5'-cyclic AMP: step 1/1.;Purine metabolism;G alpha (s) signalling events PE1 5 +NX_O95264 5-hydroxytryptamine receptor 3B 441 50292 5.15 4 Cell membrane NA This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel. N-glycosylation required for membrane localization. Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3B sub-subfamily. Neurotransmitter receptors and postsynaptic signal transmission PE1 11 +NX_O95267 RAS guanyl-releasing protein 1 797 90402 8.2 0 Cytosol;Endoplasmic reticulum membrane;Cell membrane;Golgi apparatus membrane Systemic lupus erythematosus Functions as a calcium- and diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP (PubMed:15899849, PubMed:23908768). Activates the Erk/MAP kinase cascade (PubMed:15899849). Regulates T-cell/B-cell development, homeostasis and differentiation by coupling T-lymphocyte/B-lymphocyte antigen receptors to Ras (PubMed:10807788, PubMed:12839994). Regulates NK cell cytotoxicity and ITAM-dependent cytokine production by activation of Ras-mediated ERK and JNK pathways (PubMed:19933860). Functions in mast cell degranulation and cytokine secretion, regulating FcERI-evoked allergic responses (By similarity). May also function in differentiation of other cell types (PubMed:12845332). NA Belongs to the RASGRP family. MAPK signaling pathway;T cell receptor signaling pathway;FCERI mediated NF-kB activation;RAF/MAP kinase cascade;Effects of PIP2 hydrolysis;Activation of RAS in B cells;Integrin alphaIIb beta3 signaling;Rap1 signalling PE1 15 +NX_O95271 Poly [ADP-ribose] polymerase tankyrase-1 1327 142039 6.58 0 Cytoplasm;Nuclear pore complex;Nucleus membrane;Nucleoplasm;Spindle pole;Centrosome;Telomere;Golgi apparatus membrane NA Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking (PubMed:10988299, PubMed:11739745, PubMed:16076287, PubMed:19759537, PubMed:21478859, PubMed:22864114, PubMed:23622245, PubMed:25043379). Acts as an activator of the Wnt signaling pathway by mediating poly-ADP-ribosylation (PARsylation) of AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex: poly-ADP-ribosylated target proteins are recognized by RNF146, which mediates their ubiquitination and subsequent degradation (PubMed:19759537, PubMed:21478859). Also mediates PARsylation of BLZF1 and CASC3, followed by recruitment of RNF146 and subsequent ubiquitination (PubMed:21478859). Mediates PARsylation of TERF1, thereby contributing to the regulation of telomere length (PubMed:11739745). Involved in centrosome maturation during prometaphase by mediating PARsylation of HEPACAM2/MIKI (PubMed:22864114). May also regulate vesicle trafficking and modulate the subcellular distribution of SLC2A4/GLUT4-vesicles (PubMed:10988299). May be involved in spindle pole assembly through PARsylation of NUMA1 (PubMed:16076287). Stimulates 26S proteasome activity (PubMed:23622245). ADP-ribosylated (-auto). Poly-ADP-ribosylated protein is recognized by RNF146, followed by ubiquitination.;Ubiquitinated by RNF146 when auto-poly-ADP-ribosylated, leading to its degradation.;Phosphorylated on serine residues by MAPK kinases upon insulin stimulation. Phosphorylated during mitosis. NA Degradation of AXIN;TCF dependent signaling in response to WNT;XAV939 inhibits tankyrase, stabilizing AXIN;Ub-specific processing proteases;Regulation of PTEN stability and activity PE1 8 +NX_O95273 Cyclin-D1-binding protein 1 360 40262 4.71 0 Nucleoplasm;Cytoplasm;Nucleus NA May negatively regulate cell cycle progression. May act at least in part via inhibition of the cyclin-D1/CDK4 complex, thereby preventing phosphorylation of RB1 and blocking E2F-dependent transcription. Phosphorylated. Belongs to the CCNDBP1 family. NA PE1 15 +NX_O95274 Ly6/PLAUR domain-containing protein 3 346 35971 8.05 0 Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane NA Supports cell migration. May be involved in urothelial cell-matrix interactions. May be involved in tumor progression. N-glycosylated and O-glycosylated. NA Post-translational modification: synthesis of GPI-anchored proteins PE1 19 +NX_O95278 Laforin 331 37158 6.19 0 Cytoplasm;Endoplasmic reticulum membrane;Cell membrane;Nucleoplasm;Nucleus Epilepsy, progressive myoclonic 2 Has phosphatase activity (in vitro).;Does not bind to glycogen (PubMed:18617530). Lacks phosphatase activity and might function as a dominant-negative regulator for the phosphatase activity of isoform 1 and isoform 7 (PubMed:18617530, PubMed:22036712).;Plays an important role in preventing glycogen hyperphosphorylation and the formation of insoluble aggregates, via its activity as glycogen phosphatase, and by promoting the ubiquitination of proteins involved in glycogen metabolism via its interaction with the E3 ubiquitin ligase NHLRC1/malin. Shows strong phosphatase activity towards complex carbohydrates in vitro, avoiding glycogen hyperphosphorylation which is associated with reduced branching and formation of insoluble aggregates (PubMed:16901901, PubMed:23922729, PubMed:26231210, PubMed:25538239, PubMed:25544560). Dephosphorylates phosphotyrosine and synthetic substrates, such as para-nitrophenylphosphate (pNPP), and has low activity with phosphoserine and phosphothreonine substrates (in vitro) (PubMed:11001928, PubMed:11220751, PubMed:11739371, PubMed:14532330, PubMed:16971387, PubMed:18617530, PubMed:22036712, PubMed:23922729, PubMed:14722920). Has been shown to dephosphorylate MAPT (By similarity). Forms a complex with NHLRC1/malin and HSP70, which suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Acts as a scaffold protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin (PubMed:23922729). Also promotes proteasome-independent protein degradation through the macroautophagy pathway (PubMed:20453062). Polyubiquitinated by NHLRC1/malin.;Phosphorylation on Ser-25 by AMPK affects the phosphatase activity of the enzyme and its ability to homodimerize and interact with NHLRC1, PPP1R3C or PRKAA2. Belongs to the protein-tyrosine phosphatase family. Glycogen synthesis;Myoclonic epilepsy of Lafora PE1 6 +NX_O95279 Potassium channel subfamily K member 5 499 55130 6.3 4 Membrane;Nucleoplasm NA PH-dependent, voltage insensitive, outwardly rectifying potassium channel. Outward rectification is lost at high external K(+) concentrations. NA Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. Protein digestion and absorption;Phase 4 - resting membrane potential PE1 6 +NX_O95292 Vesicle-associated membrane protein-associated protein B/C 243 27228 6.85 1 Endoplasmic reticulum;Endoplasmic reticulum membrane Amyotrophic lateral sclerosis 8;Spinal muscular atrophy, proximal, adult, autosomal dominant Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity. Involved in cellular calcium homeostasis regulation. NA Belongs to the VAMP-associated protein (VAP) (TC 9.B.17) family. Sphingolipid de novo biosynthesis PE1 20 +NX_O95294 RasGAP-activating-like protein 1 804 90016 6.09 0 Cytosol;Cell junction;Cell membrane NA Probable inhibitory regulator of the Ras-cyclic AMP pathway (PubMed:9751798). Plays a role in dendrite formation by melanocytes (PubMed:23999003). NA NA Regulation of RAS by GAPs;Signaling by RAS mutants PE1 12 +NX_O95295 SNARE-associated protein Snapin 136 14874 9.35 0 Golgi apparatus;Lysosome membrane;Nucleolus;Membrane;Synaptic vesicle membrane;Golgi apparatus membrane;Cytosol;Perinuclear region NA Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking and synaptic vesicle recycling. May modulate a step between vesicle priming, fusion and calcium-dependent neurotransmitter release through its ability to potentiate the interaction of synaptotagmin with the SNAREs and the plasma-membrane-associated protein SNAP25. Its phosphorylation state influences exocytotic protein interactions and may regulate synaptic vesicle exocytosis. May also have a role in the mechanisms of SNARE-mediated membrane fusion in non-neuronal cells (PubMed:17182842, PubMed:18167355). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). Phosphorylated by CSNK1D/CK1 (By similarity). Phosphorylated by PKD, phosphorylation controls SNAPIN protein stability. Belongs to the SNAPIN family. Golgi Associated Vesicle Biogenesis PE1 1 +NX_O95297 Myelin protein zero-like protein 1 269 29082 8.85 1 Membrane;Cytoplasmic vesicle;Cell membrane NA But not isoform 2 and isoform 3, may be involved in regulation of integrin-mediated cell motility.;Cell surface receptor, which is involved in signal transduction processes. Recruits PTPN11/SHP-2 to the cell membrane and is a putative substrate of PTPN11/SHP-2. Is a major receptor for concanavalin-A (ConA) and is involved in cellular signaling induced by ConA, which probably includes Src family tyrosine-protein kinases.;Seems to have a dominant negative role; it blocks tyrosine phosphorylation of MPZL1 induced by ConA. Phosphorylated on tyrosine residues upon stimulation with pervanadate and concanavalin-A (ConA). Phosphorylation at Tyr-241 and Tyr-263 is required for interaction with PTPN11/SHP-2. Dephosphorylated by PTPN11/SHP-2 (in vitro).;N-glycosylated. N-glycosylation is required for concanavalin A binding (PubMed:30392906). Belongs to the myelin P0 protein family. Cell adhesion molecules (CAMs) PE1 1 +NX_O95298 NADH dehydrogenase [ubiquinone] 1 subunit C2 119 14188 9.04 1 Cytoplasm;Mitochondrion inner membrane NA Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFC2 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis;Neutrophil degranulation PE1 11 +NX_O95299 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial 355 40751 8.67 0 Mitochondrion matrix;Mitochondrion Mitochondrial complex I deficiency, nuclear type 22 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Phosphorylation at Ser-250 by PINK1 is required for the binding and/or reduction of the complex I substrate ubiquinone. Belongs to the complex I NDUFA10 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 2 +NX_O95302 Peptidyl-prolyl cis-trans isomerase FKBP9 570 63084 4.91 0 Endoplasmic reticulum NA PPIases accelerate the folding of proteins during protein synthesis. Phosphorylated. NA Association of TriC/CCT with target proteins during biosynthesis PE1 7 +NX_O95319 CUGBP Elav-like family member 2 508 54285 8.98 0 Cytoplasm;Nucleoplasm;Nucleus;Cytoskeleton NA RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of TNNT2 in embryonic, but not adult, skeletal muscle. Activates TNNT2 exon 5 inclusion by antagonizing the repressive effect of PTB. Acts as both an activator and repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Promotes inclusion of exonS 21 and exclusion of exon 5 of the NMDA receptor R1 pre-mRNA. Involved in the apoB RNA editing activity. Increases COX2 mRNA stability and inhibits COX2 mRNA translation in epithelial cells after radiation injury (By similarity). Modulates the cellular apoptosis program by regulating COX2-mediated prostaglandin E2 (PGE2) expression (By similarity). Binds to (CUG)n triplet repeats in the 3'-UTR of transcripts such as DMPK. Binds to the muscle-specific splicing enhancer (MSE) intronic sites flanking the TNNT2 alternative exon 5. Binds preferentially to UG-rich sequences, in particular UG repeat and UGUU motifs. Binds to apoB mRNA, specifically to AU-rich sequences located immediatly upstream of the edited cytidine. Binds AU-rich sequences in the 3'-UTR of COX2 mRNA (By similarity). Binds to an intronic RNA element responsible for the silencing of exon 21 splicing (By similarity). Binds to (CUG)n repeats (By similarity). May be a specific regulator of miRNA biogenesis. Binds to primary microRNA pri-MIR140 and, with CELF1, negatively regulates the processing to mature miRNA (PubMed:28431233). NA Belongs to the CELF/BRUNOL family. NA PE1 10 +NX_O95336 6-phosphogluconolactonase 258 27547 5.7 0 Nucleoplasm;Cytoplasm;Cytosol NA Hydrolysis of 6-phosphogluconolactone to 6-phosphogluconate. NA Belongs to the glucosamine/galactosamine-6-phosphate isomerase family. 6-phosphogluconolactonase subfamily. Carbohydrate degradation; pentose phosphate pathway; D-ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage): step 2/3.;Pentose phosphate pathway;Metabolic pathways;Pentose phosphate pathway PE1 19 +NX_O95340 Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 614 69501 8.18 0 Mitochondrion Brachyolmia type 4 with mild epiphyseal and metaphyseal changes Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3'-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate-activation pathway. May have an important role in skeletogenesis during postnatal growth (By similarity). NA In the N-terminal section; belongs to the APS kinase family.;In the C-terminal section; belongs to the sulfate adenylyltransferase family. Sulfur metabolism; sulfate assimilation.;Purine metabolism;Selenocompound metabolism;Sulfur metabolism;Metabolic pathways;Transport and synthesis of PAPS;Defective PAPSS2 causes SEMD-PA;Metabolism of ingested H2SeO4 and H2SeO3 into H2Se PE1 10 +NX_O95342 Bile salt export pump 1321 146407 6.17 12 Membrane;Nucleoplasm;Cytosol;Cell membrane Cholestasis, benign recurrent intrahepatic, 2;Cholestasis, progressive familial intrahepatic, 2 Catalyzes the secretion of conjugated bile salts across the canalicular membrane of hepatocytes in an ATP-dependent manner (PubMed:16332456). Transports taurine-conjugated bile salts more rapidly than glycine-conjugated bile salts (PubMed:16332456). NA Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. ABC transporters;Bile secretion;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Recycling of bile acids and salts;Defective ABCB11 causes progressive familial intrahepatic cholestasis 2 and benign recurrent intrahepatic cholestasis 2 PE1 2 +NX_O95343 Homeobox protein SIX3 332 35487 8.95 0 Nucleoplasm;Nucleus Schizencephaly;Holoprosencephaly 2 Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a ATTA homeodomain core recognition sequence on these target genes. During forebrain development represses WNT1 expression allowing zona limitans intrathalamica formation and thereby ensuring proper anterio-posterior patterning of the diencephalon and formation of the rostral diencephalon. Acts as a direct upstream activator of SHH expression in the rostral diencephalon ventral midline and that in turn SHH maintains its expression. In addition, Six3 activity is required for the formation of the telencephalon. During postnatal stages of brain development is necessary for ependymal cell maturation by promoting the maturation of radial glia into ependymal cells through regulation of neuroblast proliferation and migration. Acts on the proliferation and differentiation of neural progenitor cells through activating transcription of CCND1 AND CCND2. During early lens formation plays a role in lens induction and specification by activating directly PAX6 in the presumptive lens ectoderm. In turn PAX6 activates SIX3 resulting in activation of PDGFRA and CCND1 promoting cell proliferation. Also is required for the neuroretina development by directly suppressing WNT8B expression in the anterior neural plate territory. Its action during retina development and lens morphogenesis is TLE5 and TLE4-dependent manner. Furthermore, during eye development regulates several genes expression. Before and during early lens development represses the CRYGF promoter by binding a SIX repressor element. Directly activates RHO transcription, or cooperates with CRX or NRL. Six3 functions also in the formation of the proximodistal axis of the optic cup, and promotes the formation of optic vesicles-like structures. During pituitary development, acts in parallel or alternatively with HESX1 to control cell proliferation through Wnt/beta-catenin pathway (By similarity). Plays a role in eye development by suppressing WNT1 expression and in dorsal-ventral patterning by repressing BMP signaling pathway. NA Belongs to the SIX/Sine oculis homeobox family. NA PE1 2 +NX_O95347 Structural maintenance of chromosomes protein 2 1197 135656 8.54 0 Cytoplasm;Nucleolus;Chromosome;Nucleoplasm;Nucleus NA Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. NA Belongs to the SMC family. SMC2 subfamily. Condensation of Prophase Chromosomes;Condensation of Prometaphase Chromosomes PE1 9 +NX_O95352 Ubiquitin-like modifier-activating enzyme ATG7 703 77960 5.85 0 Cytoplasm;Cell membrane;Nucleoplasm;Preautophagosomal structure;Cytosol NA E1-like activating enzyme involved in the 2 ubiquitin-like systems required for cytoplasm to vacuole transport (Cvt) and autophagy. Activates ATG12 for its conjugation with ATG5 as well as the ATG8 family proteins for their conjugation with phosphatidylethanolamine. Both systems are needed for the ATG8 association to Cvt vesicles and autophagosomes membranes. Required for autophagic death induced by caspase-8 inhibition. Required for mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Modulates p53/TP53 activity to regulate cell cycle and survival during metabolic stress. Plays also a key role in the maintenance of axonal homeostasis, the prevention of axonal degeneration, the maintenance of hematopoietic stem cells, the formation of Paneth cell granules, as well as in adipose differentiation. Plays a role in regulating the liver clock and glucose metabolism by mediating the autophagic degradation of CRY1 (clock repressor) in a time-dependent manner (By similarity). Acetylated by EP300. Belongs to the ATG7 family. Regulation of autophagy;Antigen processing: Ubiquitination & Proteasome degradation;Macroautophagy;Neutrophil degranulation;Signaling by BRAF and RAF fusions PE1 3 +NX_O95359 Transforming acidic coiled-coil-containing protein 2 2948 309427 4.71 0 Cytoplasm;Cell membrane;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). May play a role in organizing centrosomal microtubules. May act as a tumor suppressor protein. May represent a tumor progression marker. Phosphorylated by TTK; which is required for localization in centrosome. Belongs to the TACC family. NA PE1 10 +NX_O95361 Tripartite motif-containing protein 16 564 63955 5.34 0 Cytoplasm NA E3 ubiquitin ligase that plays an essential role in the organization of autophagic response and ubiquitination upon lysosomal and phagosomal damages. Plays a role in the stress-induced biogenesis and degradation of protein aggresomes by regulating the p62-KEAP1-NRF2 signaling and particularly by modulating the ubiquitination levels and thus stability of NRF2. Acts as a scaffold protein and facilitates autophagic degradation of protein aggregates by interacting with p62/SQSTM, ATG16L1 and LC3B/MAP1LC3B. In turn, protects the cell against oxidative stress-induced cell death as a consequence of endomembrane damage. Phosphorylated by ULK1.;Auto-ubiquitinates via its B-Boxes. Belongs to the TRIM/RBCC family. NA PE1 17 +NX_O95363 Phenylalanine--tRNA ligase, mitochondrial 451 52357 6.99 0 Mitochondrion matrix;Mitochondrion;Cell membrane Spastic paraplegia 77, autosomal recessive;Combined oxidative phosphorylation deficiency 14 Is responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, also catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe), thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins. NA Belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation PE1 6 +NX_O95365 Zinc finger and BTB domain-containing protein 7A 584 61439 4.98 0 Nucleoplasm;Nucleus NA Transcription factor that represses the transcription of a wide range of genes involved in cell proliferation and differentiation (PubMed:14701838, PubMed:17595526, PubMed:20812024, PubMed:25514493, PubMed:26455326, PubMed:26816381). Directly and specifically binds to the consensus sequence 5'-[GA][CA]GACCCCCCCCC-3' and represses transcription both by regulating the organization of chromatin and through the direct recruitment of transcription factors to gene regulatory regions (PubMed:12004059, PubMed:17595526, PubMed:20812024, PubMed:25514493, PubMed:26816381). Negatively regulates SMAD4 transcriptional activity in the TGF-beta signaling pathway through these two mechanisms (PubMed:25514493). That is, recruits the chromatin regulator HDAC1 to the SMAD4-DNA complex and in parallel prevents the recruitment of the transcriptional activators CREBBP and EP300 (PubMed:25514493). Collaborates with transcription factors like RELA to modify the accessibility of gene transcription regulatory regions to secondary transcription factors (By similarity). Also directly interacts with transcription factors like SP1 to prevent their binding to DNA (PubMed:12004059). Functions as an androgen receptor/AR transcriptional corepressor by recruiting NCOR1 and NCOR2 to the androgen response elements/ARE on target genes (PubMed:20812024). Thereby, negatively regulates androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Involved in the switch between fetal and adult globin expression during erythroid cells maturation (PubMed:26816381). Through its interaction with the NuRD complex regulates chromatin at the fetal globin genes to repress their transcription (PubMed:26816381). Specifically represses the transcription of the tumor suppressor ARF isoform from the CDKN2A gene (By similarity). Efficiently abrogates E2F1-dependent CDKN2A transactivation (By similarity). Regulates chondrogenesis through the transcriptional repression of specific genes via a mechanism that also requires histone deacetylation (By similarity). Regulates cell proliferation through the transcriptional regulation of genes involved in glycolysis (PubMed:26455326). Involved in adipogenesis through the regulation of genes involved in adipocyte differentiation (PubMed:14701838). Plays a key role in the differentiation of lymphoid progenitors into B and T lineages (By similarity). Promotes differentiation towards the B lineage by inhibiting the T-cell instructive Notch signaling pathway through the specific transcriptional repression of Notch downstream target genes (By similarity). Also regulates osteoclast differentiation (By similarity). May also play a role, independently of its transcriptional activity, in double-strand break repair via classical non-homologous end joining/cNHEJ (By similarity). Recruited to double-strand break sites on damage DNA, interacts with the DNA-dependent protein kinase complex and directly regulates its stability and activity in DNA repair (By similarity). May also modulate the splicing activity of KHDRBS1 toward BCL2L1 in a mechanism which is histone deacetylase-dependent and thereby negatively regulates the pro-apoptotic effect of KHDRBS1 (PubMed:24514149). Sumoylated. Undergoes sumoylation with SUMO1 that may regulate its transcriptional activity. NA NA PE1 19 +NX_O95371 Olfactory receptor 2C1 312 34412 8.96 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 16 +NX_O95372 Acyl-protein thioesterase 2 231 24737 6.74 0 Cytoplasm NA Hydrolyzes fatty acids from S-acylated cysteine residues in proteins such as trimeric G alpha proteins, GAP43, ZDHHC6 or HRAS (PubMed:21152083, PubMed:28826475). Deacylates GAP43 (PubMed:21152083). Mediates depalmitoylation of ZDHHC6 (PubMed:28826475). Has lysophospholipase activity (By similarity). NA Belongs to the AB hydrolase superfamily. AB hydrolase 2 family. Glycerophospholipid metabolism;L1CAM interactions PE1 1 +NX_O95373 Importin-7 1038 119517 4.7 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA (Microbial infection) Mediates the nuclear import of HIV-1 reverse transcription complex (RTC) integrase. Binds and mediates the nuclear import of HIV-1 Rev.;Functions in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates autonomously the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In association with KPNB1 mediates the nuclear import of H1 histone and the Ran-binding site of IPO7 is not required but synergizes with that of KPNB1 in importin/substrate complex dissociation. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. NA Belongs to the importin beta family. NA PE1 11 +NX_O95376 E3 ubiquitin-protein ligase ARIH2 493 57819 5.4 0 Nucleoplasm;Cytoplasm;Nucleus NA E3 ubiquitin-protein ligase, which catalyzes ubiquitination of target proteins together with ubiquitin-conjugating enzyme E2 UBE2L3 (PubMed:16118314, PubMed:17646546, PubMed:19340006, PubMed:24076655). Acts as an atypical E3 ubiquitin-protein ligase by working together with cullin-5-RING ubiquitin ligase complex (ECS complex, also named CRL5 complex) and initiating ubiquitination of ECS substrates: associates with ECS complex and specifically mediates addition of the first ubiquitin on ECS targets (By similarity). The initial ubiquitin is then elongated (By similarity). E3 ubiquitin-protein ligase activity is activated upon binding to neddylated form of the ECS complex (PubMed:24076655). Mediates 'Lys-6', 'Lys-48'-and 'Lys-63'-linked polyubiquitination (PubMed:16118314, PubMed:17646546, PubMed:19340006). May play a role in myelopoiesis (PubMed:19340006). Ubiquitinated. Ubiquitination promotes proteasomal degradation. Belongs to the RBR family. Ariadne subfamily. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 3 +NX_O95377 Gap junction beta-5 protein 273 31088 8.53 4 Gap junction;Cell membrane NA One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. NA Belongs to the connexin family. Beta-type (group I) subfamily. Gap junction assembly PE2 1 +NX_O95379 Tumor necrosis factor alpha-induced protein 8 198 23003 7.75 0 Cytoplasm;Nucleoplasm NA Acts as a negative mediator of apoptosis and may play a role in tumor progression. Suppresses the TNF-mediated apoptosis by inhibiting caspase-8 activity but not the processing of procaspase-8, subsequently resulting in inhibition of BID cleavage and caspase-3 activation. NA Belongs to the TNFAIP8 family. PI Metabolism PE1 5 +NX_O95382 Mitogen-activated protein kinase kinase kinase 6 1288 142596 6.7 0 Nucleoplasm;Cytosol;Cell membrane;Cytoskeleton NA Component of a protein kinase signal transduction cascade. Activates the JNK, but not ERK or p38 kinase pathways. NA Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. MAPK signaling pathway PE1 1 +NX_O95388 WNT1-inducible-signaling pathway protein 1 367 40331 6.84 0 Cytosol;Secreted NA Downstream regulator in the Wnt/Frizzled-signaling pathway. Associated with cell survival. Attenuates p53-mediated apoptosis in response to DNA damage through activation of AKT kinase. Up-regulates the anti-apoptotic Bcl-X(L) protein. Adheres to skin and melanoma fibroblasts. In vitro binding to skin fibroblasts occurs through the proteoglycans, decorin and biglycan. NA Belongs to the CCN family. NA PE1 8 +NX_O95389 Cellular communication network factor 6 354 39293 8.87 0 Endoplasmic reticulum;Mitochondrion;Secreted Progressive pseudorheumatoid arthropathy of childhood Plays a role in mitochondrial electron transport and mitochondrial respiration (PubMed:27252383). Through its regulation of the mitochondrial function may play a role in normal postnatal skeletal growth and cartilage homeostasis (PubMed:27252383, PubMed:10471507). NA Belongs to the CCN family. NA PE1 6 +NX_O95390 Growth/differentiation factor 11 407 45091 8.18 0 Cytoplasmic vesicle;Secreted NA Secreted signal that acts globally to specify positional identity along the anterior/posterior axis during development. May play critical roles in patterning both mesodermal and neural tissues and in establishing the skeletal pattern (By similarity). Signals through activin receptors type-2, ACVR2A and ACVR2B, and activin receptors type-1, ACVR1B, ACVR1C and TGFBR1 leading to the phosphorylation of SMAD2 and SMAD3 (PubMed:28257634). Synthesized as large precursor molecule that undergoes proteolytic cleavage. The mature C-terminal portion of the molecule is bound non-covalently to its N-terminal propeptide rendering it inactive. Ligand activation requires additional cleavage of the prodomain by a tolloid-like metalloproteinase. Belongs to the TGF-beta family. NA PE1 12 +NX_O95391 Pre-mRNA-splicing factor SLU7 586 68387 6.69 0 Cytoplasm;Nucleoplasm;Nucleus speckle;Nucleus NA Required for pre-mRNA splicing as component of the spliceosome (PubMed:10197984, PubMed:28502770, PubMed:30705154). Participates in the second catalytic step of pre-mRNA splicing, when the free hydroxyl group of exon I attacks the 3'-splice site to generate spliced mRNA and the excised lariat intron. Required for holding exon 1 properly in the spliceosome and for correct AG identification when more than one possible AG exists in 3'-splicing site region. May be involved in the activation of proximal AG. Probably also involved in alternative splicing regulation. NA Belongs to the SLU7 family. Spliceosome;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 5 +NX_O95393 Bone morphogenetic protein 10 424 48047 4.89 0 Secreted NA Required for maintaining the proliferative activity of embryonic cardiomyocytes by preventing premature activation of the negative cell cycle regulator CDKN1C/p57KIP and maintaining the required expression levels of cardiogenic factors such as MEF2C and NKX2-5. Acts as a ligand for ACVRL1/ALK1, BMPR1A/ALK3 and BMPR1B/ALK6, leading to activation of SMAD1, SMAD5 and SMAD8 transcription factors. Inhibits endothelial cell migration and growth. May reduce cell migration and cell matrix adhesion in breast cancer cell lines. NA Belongs to the TGF-beta family. Signaling by BMP;Molecules associated with elastic fibres PE1 2 +NX_O95394 Phosphoacetylglucosamine mutase 542 59852 5.84 0 Nucleoplasm;Cytosol Immunodeficiency 23 Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation. NA Belongs to the phosphohexose mutase family. Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; N-acetyl-alpha-D-glucosamine 1-phosphate from alpha-D-glucosamine 6-phosphate (route I): step 2/2.;Amino sugar and nucleotide sugar metabolism;Synthesis of UDP-N-acetyl-glucosamine PE1 6 +NX_O95395 Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3 438 50864 8.53 1 Golgi apparatus;Cytoplasmic vesicle;Golgi apparatus membrane NA Glycosyltransferase that can synthesize all known mucin beta 6 N-acetylglucosaminides. Mediates core 2 and core 4 O-glycan branching, 2 important steps in mucin-type biosynthesis. Has also I-branching enzyme activity by converting linear into branched poly-N-acetyllactosaminoglycans, leading to introduce the blood group I antigen during embryonic development. N-glycosylated. Belongs to the glycosyltransferase 14 family. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 15 +NX_O95396 Adenylyltransferase and sulfurtransferase MOCS3 460 49669 5.85 0 Cytoplasm NA Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of cytosolic tRNA(Lys), tRNA(Glu) and tRNA(Gln). Also essential during biosynthesis of the molybdenum cofactor. Acts by mediating the C-terminal thiocarboxylation of sulfur carriers URM1 and MOCS2A. Its N-terminus first activates URM1 and MOCS2A as acyl-adenylates (-COAMP), then the persulfide sulfur on the catalytic cysteine is transferred to URM1 and MOCS2A to form thiocarboxylation (-COSH) of their C-terminus. The reaction probably involves hydrogen sulfide that is generated from the persulfide intermediate and that acts as nucleophile towards URM1 and MOCS2A. Subsequently, a transient disulfide bond is formed. Does not use thiosulfate as sulfur donor; NFS1 probably acting as a sulfur donor for thiocarboxylation reactions. NA In the N-terminal section; belongs to the HesA/MoeB/ThiF family. UBA4 subfamily. tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis.;Cofactor biosynthesis; molybdopterin biosynthesis.;Sulfur relay system;Molybdenum cofactor biosynthesis PE1 20 +NX_O95397 Putative protein PLEKHA9 391 43539 5.03 0 NA NA NA NA NA NA PE5 12 +NX_O95398 Rap guanine nucleotide exchange factor 3 923 103751 7.28 0 Endomembrane system;Cytosol NA Guanine nucleotide exchange factor (GEF) for RAP1A and RAP2A small GTPases that is activated by binding cAMP. Through simultaneous binding of PDE3B to RAPGEF3 and PIK3R6 is assembled in a signaling complex in which it activates the PI3K gamma complex and which is involved in angiogenesis. Plays a role in the modulation of the cAMP-induced dynamic control of endothelial barrier function through a pathway that is independent on Rho-mediated signaling. Required for the actin rearrangement at cell-cell junctions, such as stress fibers and junctional actin. NA NA Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Integrin alphaIIb beta3 signaling;Regulation of insulin secretion;Rap1 signalling PE1 12 +NX_O95399 Urotensin-2 124 14296 7.67 0 Secreted NA Highly potent vasoconstrictor. NA Belongs to the urotensin-2 family. Peptide ligand-binding receptors;G alpha (q) signalling events PE1 1 +NX_O95400 CD2 antigen cytoplasmic tail-binding protein 2 341 37646 4.49 0 Cytoplasm;Cytosol;Nucleus speckle;Nucleus NA Involved in pre-mRNA splicing as component of the U5 snRNP complex that is involved in spliceosome assembly. NA NA mRNA Splicing - Major Pathway PE1 16 +NX_O95402 Mediator of RNA polymerase II transcription subunit 26 600 65446 9.27 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasmic vesicle NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 26 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 19 +NX_O95405 Zinc finger FYVE domain-containing protein 9 1425 156403 4.89 0 Early endosome membrane;Cytoplasm;Cytosol;Cytoplasmic vesicle NA Early endosomal protein that functions to recruit SMAD2/SMAD3 to intracellular membranes and to the TGF-beta receptor. Plays a significant role in TGF-mediated signaling by regulating the subcellular location of SMAD2 and SMAD3 and modulating the transcriptional activity of the SMAD3/SMAD4 complex. Possibly associated with TGF-beta receptor internalization. NA NA Downregulation of TGF-beta receptor signaling;TGF-beta receptor signaling activates SMADs;SMAD2/3 Phosphorylation Motif Mutants in Cancer;TGFBR1 KD Mutants in Cancer PE1 1 +NX_O95406 Protein cornichon homolog 1 144 16699 5.39 3 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus membrane NA Involved in the selective transport and maturation of TGF-alpha family proteins. NA Belongs to the cornichon family. COPII-mediated vesicle transport;Cargo concentration in the ER PE1 14 +NX_O95407 Tumor necrosis factor receptor superfamily member 6B 300 32680 8.68 0 Secreted NA Decoy receptor that can neutralize the cytotoxic ligands TNFS14/LIGHT, TNFSF15 and TNFSF6/FASL. Protects against apoptosis. NA NA Cytokine-cytokine receptor interaction;TNFs bind their physiological receptors PE1 20 +NX_O95409 Zinc finger protein ZIC 2 532 55006 8.68 0 Cytoplasm;Nucleus Holoprosencephaly 5 Acts as a transcriptional activator or repressor. Plays important roles in the early stage of organogenesis of the CNS. Activates the transcription of the serotonin transporter SERT in uncrossed ipsilateral retinal ganglion cells (iRGCs) to refine eye-specific projections in primary visual targets. Its transcriptional activity is repressed by MDFIC. Involved in the formation of the ipsilateral retinal projection at the optic chiasm midline. Drives the expression of EPHB1 on ipsilaterally projecting growth cones. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3'. Associates to the basal SERT promoter region from ventrotemporal retinal segments of retinal embryos. Ubiquitinated by RNF180, leading to its degradation.;Phosphorylated. Belongs to the GLI C2H2-type zinc-finger protein family. NA PE1 13 +NX_O95411 TGFB1-induced anti-apoptotic factor 1 115 12414 8.35 0 Nucleus NA Inhibits the cytotoxic effects of TNF-alpha and overexpressed TNF receptor adapters TRADD, FADD, and RIPK1. Involved in TGF-beta1 inhibition of IkappaB-alpha expression and suppression of TNF-mediated IkappaB-alpha degradation. NA NA NA PE1 17 +NX_O95415 Brain protein I3 125 13645 8.69 2 Lysosome membrane NA Participates in tumor necrosis factor-alpha (TNF)-induced cell death (PubMed:14592447). May be a target of Wnt/beta-catenin signaling in the liver (PubMed:20538055). NA Belongs to the BRI3 family. Neutrophil degranulation PE1 7 +NX_O95416 Transcription factor SOX-14 240 26485 9.68 0 Nucleus NA Acts as a negative regulator of transcription. NA NA NA PE1 3 +NX_O95424 Dexamethasone-induced protein 95 10429 3.61 0 Cytoplasm;Cytosol;Nucleus speckle NA NA NA Belongs to the DEXI family. NA PE2 16 +NX_O95425 Supervillin 2214 247746 6.55 0 Cleavage furrow;Invadopodium;Cell membrane;Podosome;Cytosol;Midbody;Cytoskeleton NA Forms a high-affinity link between the actin cytoskeleton and the membrane. Is among the first costameric proteins to assemble during myogenesis and it contributes to myogenic membrane structure and differentiation (PubMed:12711699). Appears to be involved in myosin II assembly. May modulate myosin II regulation through MLCK during cell spreading, an initial step in cell migration. May play a role in invadopodial function (PubMed:19109420).;May be involved in modulation of focal adhesions. Supervillin-mediated down-regulation of focal adhesions involves binding to TRIP6. Plays a role in cytokinesis through KIF14 interaction (By similarity). NA Belongs to the villin/gelsolin family. NA PE1 10 +NX_O95427 GPI ethanolamine phosphate transferase 1 931 105810 8.82 15 Cytosol;Endoplasmic reticulum membrane;Cell membrane Multiple congenital anomalies-hypotonia-seizures syndrome 1 Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation. NA Belongs to the PIGG/PIGN/PIGO family. PIGN subfamily. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Synthesis of glycosylphosphatidylinositol (GPI) PE1 18 +NX_O95428 Papilin 1278 137700 6.45 0 Nucleoplasm;Secreted NA NA NA Belongs to the papilin family. NA PE1 14 +NX_O95429 BAG family molecular chaperone regulator 4 457 49594 5.02 0 Cytoplasm NA Inhibits the chaperone activity of HSP70/HSC70 by promoting substrate release (By similarity). Prevents constitutive TNFRSF1A signaling. Negative regulator of PRKN translocation to damaged mitochondria. NA NA Regulation of HSF1-mediated heat shock response;Signaling by FGFR1 in disease;TNF signaling;Signaling by plasma membrane FGFR1 fusions PE1 8 +NX_O95433 Activator of 90 kDa heat shock protein ATPase homolog 1 338 38274 5.41 0 Endoplasmic reticulum;Cytosol NA Acts as a co-chaperone of HSP90AA1 (PubMed:29127155). Activates the ATPase activity of HSP90AA1 leading to increase in its chaperone activity (PubMed:29127155). Competes with the inhibitory co-chaperone FNIP1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:27353360). Competes with the inhibitory co-chaperone TSC1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:29127155). Phosphorylation at Tyr-223 enhances binding to chaperone HSP90AA1. Belongs to the AHA1 family. NA PE1 14 +NX_O95436 Sodium-dependent phosphate transport protein 2B 690 75759 8.54 8 Golgi apparatus;Cell membrane;Membrane;Nucleoplasm;Cytosol Pulmonary alveolar microlithiasis May be involved in actively transporting phosphate into cells via Na(+) cotransport. It may be the main phosphate transport protein in the intestinal brush border membrane. May have a role in the synthesis of surfactant in lungs' alveoli. NA Belongs to the SLC34A transporter family. Mineral absorption;Type II Na+/Pi cotransporters;Surfactant metabolism;Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM);Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM) PE1 4 +NX_O95445 Apolipoprotein M 188 21253 5.66 0 Golgi apparatus;Secreted;Cell membrane NA Probably involved in lipid transport. Can bind sphingosine-1-phosphate, myristic acid, palmitic acid and stearic acid, retinol, all-trans-retinoic acid and 9-cis-retinoic acid. NA Belongs to the calycin superfamily. Lipocalin family. Highly divergent. Retinoid metabolism and transport PE1 6 +NX_O95447 Lebercilin-like protein 670 76505 9.51 0 Nucleoplasm;Cytosol NA NA NA Belongs to the LCA5 family. NA PE1 21 +NX_O95450 A disintegrin and metalloproteinase with thrombospondin motifs 2 1211 134755 6.76 0 Cytoplasmic vesicle;Extracellular matrix;Cell membrane Ehlers-Danlos syndrome, dermatosparaxis type Cleaves the propeptides of type I and II collagen prior to fibril assembly (By similarity). Does not act on type III collagen (By similarity). Cleaves lysyl oxidase LOX at a site downstream of its propeptide cleavage site to produce a short LOX form with reduced collagen-binding activity (PubMed:31152061). The precursor is cleaved by a furin endopeptidase.;Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity). NA O-glycosylation of TSR domain-containing proteins;Collagen biosynthesis and modifying enzymes;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 5 +NX_O95452 Gap junction beta-6 protein 261 30387 8.81 4 Cell junction;Gap junction;Cell membrane Deafness, autosomal recessive, 1B;Ectodermal dysplasia 2, Clouston type;Deafness, autosomal dominant, 3B One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. NA Belongs to the connexin family. Beta-type (group I) subfamily. Gap junction assembly PE1 13 +NX_O95453 Poly(A)-specific ribonuclease PARN 639 73451 5.86 0 Cytoplasm;Nucleolus;Nucleus speckle;Nucleus Dyskeratosis congenita, autosomal recessive, 6;Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 4 3'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs and is also used to silence certain maternal mRNAs translationally during oocyte maturation and early embryonic development. Interacts with both the 3'-end poly(A) tail and the 5'-end cap structure during degradation, the interaction with the cap structure being required for an efficient degradation of poly(A) tails. Involved in nonsense-mediated mRNA decay, a critical process of selective degradation of mRNAs that contain premature stop codons. Also involved in degradation of inherently unstable mRNAs that contain AU-rich elements (AREs) in their 3'-UTR, possibly via its interaction with KHSRP. Probably mediates the removal of poly(A) tails of AREs mRNAs, which constitutes the first step of destabilization (PubMed:10882133, PubMed:11359775, PubMed:12748283, PubMed:15175153, PubMed:9736620). Also able to recognize and trim poly(A) tails of microRNAs such as MIR21 and H/ACA box snoRNAs (small nucleolar RNAs) leading to microRNAs degradation or snoRNA increased stability (PubMed:25049417, PubMed:22442037). Phosphorylation by MAPKAPK2, preventing GADD45A mRNA degradation after genotoxic stress. Belongs to the CAF1 family. RNA degradation;ATF4 activates genes in response to endoplasmic reticulum stress;Deadenylation of mRNA;KSRP (KHSRP) binds and destabilizes mRNA PE1 16 +NX_O95455 dTDP-D-glucose 4,6-dehydratase 350 40214 6.15 0 Nucleoplasm;Cytosol;Nucleolus Catel-Manzke syndrome NA NA Belongs to the NAD(P)-dependent epimerase/dehydratase family. dTDP-glucose dehydratase subfamily. Metabolic pathways PE1 13 +NX_O95456 Proteasome assembly chaperone 1 288 32854 6.88 0 Golgi apparatus;Cytoplasm;Endoplasmic reticulum;Nucleoplasm;Cytosol NA Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG2. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the heteroheptameric alpha ring and prevents alpha ring dimerization. Degraded by the proteasome upon completion of 20S proteasome maturation. Belongs to the PSMG1 family. NA PE1 21 +NX_O95460 Matrilin-4 622 68487 5.73 0 Secreted NA Major component of the extracellular matrix of cartilage. NA NA ECM proteoglycans PE1 20 +NX_O95461 LARGE xylosyl- and glucuronyltransferase 1 756 88066 7.89 1 Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:22223806). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity and plays a key role in skeletal muscle function and regeneration. LARGE elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure initiated by B3GNT1/B4GAT1 by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide (PubMed:25279699). NA In the N-terminal section; belongs to the glycosyltransferase 8 family.;In the C-terminal section; belongs to the glycosyltransferase 49 family. Protein modification; protein glycosylation.;O-linked glycosylation;Defective LARGE causes MDDGA6 and MDDGB6 PE1 22 +NX_O95466 Formin-like protein 1 1100 121854 5.56 0 Cytoplasm;Cell cortex;Cell membrane;Bleb;Phagosome;Cytosol NA May play a role in the control of cell motility and survival of macrophages (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape. Myristoylation mediates membrane localization and blebbing. Belongs to the formin homology family. RHO GTPases Activate Formins PE1 17 +NX_O95467 Neuroendocrine secretory protein 55 245 28029 5.37 0 Secreted;Secretory vesicle ACTH-independent macronodular adrenal hyperplasia 1;Pseudohypoparathyroidism 1B;GNAS hyperfunction NA Binds keratan sulfate chains.;May be proteolytically processed to give rise to a number of active peptides. Belongs to the NESP55 family. Calcium signaling pathway;Vascular smooth muscle contraction;Gap junction;Glutamatergic synapse;Dopaminergic synapse;Long-term depression;Taste transduction;GnRH signaling pathway;Melanogenesis;Endocrine and other factor-regulated calcium reabsorption;Vasopressin-regulated water reabsorption;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Bile secretion;Vibrio cholerae infection;Chagas disease (American trypanosomiasis);Amoebiasis;Dilated cardiomyopathy PE1 20 +NX_O95470 Sphingosine-1-phosphate lyase 1 568 63524 9.24 1 Endoplasmic reticulum;Endoplasmic reticulum membrane Nephrotic syndrome 14 Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine. Elevates stress-induced ceramide production and apoptosis (PubMed:11018465, PubMed:14570870, PubMed:24809814, PubMed:28165339). Required for global lipid homeostasis in liver and cholesterol homeostasis in fibroblasts. Involved in the regulation of pro-inflammatory response and neutrophil trafficking. Modulates neuronal autophagy via phosphoethanolamine production which regulates accumulation of aggregate-prone proteins such as APP (By similarity). Seems to play a role in establishing neuronal contact sites and axonal maintenance (By similarity). NA Belongs to the group II decarboxylase family. Sphingosine-1-phosphate lyase subfamily. Lipid metabolism; sphingolipid metabolism.;Sphingolipid metabolism;Metabolic pathways;Sphingolipid de novo biosynthesis PE1 10 +NX_O95471 Claudin-7 211 22418 8.91 4 Cell membrane;Basolateral cell membrane;Cell junction;Tight junction;Cytoplasmic vesicle NA Plays a major role in tight junction-specific obliteration of the intercellular space. Phosphorylated. Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE1 17 +NX_O95473 Synaptogyrin-4 234 25820 7.64 4 Membrane;Golgi apparatus NA NA NA Belongs to the synaptogyrin family. NA PE1 19 +NX_O95475 Homeobox protein SIX6 246 27687 9.49 0 Nucleoplasm;Nucleus Optic disk anomalies with retinal and/or macular dystrophy May be involved in eye development. NA Belongs to the SIX/Sine oculis homeobox family. NA PE1 14 +NX_O95476 CTD nuclear envelope phosphatase 1 244 28377 9.78 1 Endoplasmic reticulum membrane;Nucleus membrane;Lipid droplet NA Serine/threonine protein phosphatase forming with CNEP1R1 an active phosphatase complex that dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglycerol and control the metabolism of fatty acids at different levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplets and triacylglycerol. May antagonize BMP signaling. NA Belongs to the dullard family. Depolymerisation of the Nuclear Lamina PE1 17 +NX_O95477 Phospholipid-transporting ATPase ABCA1 2261 254302 6.43 15 Cell membrane;Membrane;Nucleoplasm;Endosome;Cytoplasmic vesicle High density lipoprotein deficiency 2;High density lipoprotein deficiency 1 Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Thereby, participates to phospholipids transfer to apoliproteins to form nascent high density lipoproteins/HDLs (PubMed:14754908). Transports preferentially phosphatidylcholine over phosphatidylserine (PubMed:24097981). May play a similar role in the efflux of intracellular cholesterol to apoliproteins and the formation of nascent high density lipoproteins/HDLs (PubMed:10533863, PubMed:14754908, PubMed:24097981). Phosphorylation on Ser-2054 regulates phospholipid efflux.;Palmitoylation by DHHC8 is essential for membrane localization. Belongs to the ABC transporter superfamily. ABCA family. ABC transporters;Fat digestion and absorption;PPARA activates gene expression;Defective ABCA1 causes Tangier disease;HDL assembly PE1 9 +NX_O95478 Ribosome biogenesis protein NSA2 homolog 260 30065 10.28 0 Nucleoplasm;Nucleolus;Nucleus NA Involved in the biogenesis of the 60S ribosomal subunit. May play a part in the quality control of pre-60S particles (By similarity). NA Belongs to the eukaryotic ribosomal protein eS8 family. Ribosome biogenesis protein NSA2 subfamily. NA PE1 5 +NX_O95479 GDH/6PGL endoplasmic bifunctional protein 791 88893 6.84 0 Cytosol;Endoplasmic reticulum lumen Cortisone reductase deficiency 1 Oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphates. NA In the N-terminal section; belongs to the glucose-6-phosphate dehydrogenase family.;In the C-terminal section; belongs to the glucosamine/galactosamine-6-phosphate isomerase family. 6-phosphogluconolactonase subfamily. Pentose phosphate pathway;Metabolic pathways PE1 1 +NX_O95484 Claudin-9 217 22848 6.54 4 Cytoplasmic vesicle;Tight junction;Cell junction;Cell membrane NA Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.;(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) entry into hepatic cells. NA Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE1 16 +NX_O95486 Protein transport protein Sec24A 1093 119749 7.58 0 Endoplasmic reticulum membrane;Nucleolus;COPII-coated vesicle membrane;Cytoplasmic vesicle;Cytosol NA Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:20427317, PubMed:17499046, PubMed:18843296). Plays a central role in cargo selection within the COPII complex and together with SEC24B may have a different specificity compared to SEC24C and SEC24D. May package preferentially cargos with cytoplasmic DxE or LxxLE motifs and may also recognize conformational epitopes (PubMed:17499046, PubMed:18843296). NA Belongs to the SEC23/SEC24 family. SEC24 subfamily. Protein processing in endoplasmic reticulum;MHC class II antigen presentation;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;Regulation of cholesterol biosynthesis by SREBP (SREBF);COPII-mediated vesicle transport;Cargo concentration in the ER PE1 5 +NX_O95487 Protein transport protein Sec24B 1268 137418 6.19 0 Endoplasmic reticulum membrane;Nucleoplasm;COPII-coated vesicle membrane;Cytoplasmic vesicle;Cytosol NA Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:17499046, PubMed:20427317, PubMed:18843296). Plays a central role in cargo selection within the COPII complex and together with SEC24A may have a different specificity compared to SEC24C and SEC24D. May package preferentially cargos with cytoplasmic DxE or LxxLE motifs and may also recognize conformational epitopes (PubMed:17499046, PubMed:18843296). NA Belongs to the SEC23/SEC24 family. SEC24 subfamily. Protein processing in endoplasmic reticulum;MHC class II antigen presentation;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;Regulation of cholesterol biosynthesis by SREBP (SREBF);COPII-mediated vesicle transport;Cargo concentration in the ER PE1 4 +NX_O95490 Adhesion G protein-coupled receptor L2 1459 163349 6.02 7 Membrane;Cell junction;Cell membrane NA Calcium-independent receptor of low affinity for alpha-latrotoxin, an excitatory neurotoxin present in black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells. Receptor probably implicated in the regulation of exocytosis. Proteolytically cleaved into 2 subunits, an extracellular subunit and a seven-transmembrane subunit. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE1 1 +NX_O95497 Pantetheinase 513 57012 5.32 0 Cell membrane NA Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine. NA Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family. Pantothenate and CoA biosynthesis;Vitamin B5 (pantothenate) metabolism;Neutrophil degranulation;Post-translational modification: synthesis of GPI-anchored proteins PE1 6 +NX_O95498 Vascular non-inflammatory molecule 2 520 58503 6.07 0 Cell membrane NA Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine. Involved in the thymus homing of bone marrow cells. May regulate beta-2 integrin-mediated cell adhesion, migration and motility of neutrophil. NA Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family. Pantothenate and CoA biosynthesis;Vitamin B5 (pantothenate) metabolism;Post-translational modification: synthesis of GPI-anchored proteins PE1 6 +NX_O95500 Claudin-14 239 25699 8.94 4 Cytoplasmic vesicle;Tight junction;Cell membrane Deafness, autosomal recessive, 29 Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. NA Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE1 21 +NX_O95502 Neuronal pentraxin receptor 500 52846 5.82 1 Membrane;Nucleoplasm;Cytosol;Cell membrane NA May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses. Ubiquitinated by a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containing KLHL2. NA NA PE1 22 +NX_O95503 Chromobox protein homolog 6 412 43898 10.02 0 Nucleoplasm;Mitochondrion;Nucleus;Chromosome NA Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development (PubMed:21282530). PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Possibly contributes to the target selectivity of the PRC1 complex by binding specific regions of chromatin (PubMed:18927235). Recruitment to chromatin might occur in an H3K27me3-independent fashion (By similarity). May have a PRC1-independent function in embryonic stem cells (By similarity). NA NA Oxidative Stress Induced Senescence;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known;Regulation of PTEN gene transcription PE1 22 +NX_O95521 PRAME family member 1 474 55149 8.88 0 NA NA NA NA Belongs to the PRAME family. NA PE2 1 +NX_O95522 PRAME family member 12 483 54633 6.11 0 Nucleoplasm NA NA NA Belongs to the PRAME family. NA PE2 1 +NX_O95528 Solute carrier family 2, facilitated glucose transporter member 10 541 56911 8.9 12 Nucleoplasm;Endomembrane system;Perinuclear region;Cytoplasmic vesicle Arterial tortuosity syndrome Facilitative glucose transporter required for the development of the cardiovascular system. NA Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. Cellular hexose transport;Defective SLC2A10 causes arterial tortuosity syndrome (ATS) PE1 20 +NX_O95544 NAD kinase 446 49228 6.03 0 Nucleoplasm;Cytoplasmic vesicle NA NA NA Belongs to the NAD kinase family. Nicotinate and nicotinamide metabolism;Metabolic pathways;Nicotinate metabolism PE1 1 +NX_O95551 Tyrosyl-DNA phosphodiesterase 2 362 40930 5.02 0 Cytoplasm;Nucleolus;Nucleoplasm;PML body;Nucleus Spinocerebellar ataxia, autosomal recessive, 23 DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a 5'-phosphodiester bond, giving rise to DNA with a free 5' phosphate. Catalyzes the hydrolysis of dead-end complexes between DNA and the topoisomerase 2 (TOP2) active site tyrosine residue. The 5'-tyrosyl DNA phosphodiesterase activity can enable the repair of TOP2-induced DNA double-strand breaks/DSBs without the need for nuclease activity, creating a 'clean' DSB with 5'-phosphate termini that are ready for ligation (PubMed:27099339, PubMed:27060144). Thereby, protects the transcription of many genes involved in neurological development and maintenance from the abortive activity of TOP2. Hydrolyzes 5'-phosphoglycolates on protruding 5' ends on DSBs due to DNA damage by radiation and free radicals. Has preference for single-stranded DNA or duplex DNA with a 4 base pair overhang as substrate. Acts as a regulator of ribosome biogenesis following stress. Has also 3'-tyrosyl DNA phosphodiesterase activity, but less efficiently and much slower than TDP1. Constitutes the major if not only 5'-tyrosyl-DNA phosphodiesterase in cells. Also acts as an adapter by participating in the specific activation of MAP3K7/TAK1 in response to TGF-beta: associates with components of the TGF-beta receptor-TRAF6-TAK1 signaling module and promotes their ubiquitination dependent complex formation. Involved in non-canonical TGF-beta induced signaling routes. May also act as a negative regulator of ETS1 and may inhibit NF-kappa-B activation.;(Microbial infection) Also acts as a 5'-tyrosyl-RNA phosphodiesterase following picornavirus infection: its activity is hijacked by picornavirus and acts by specifically cleaving the protein-RNA covalent linkage generated during the viral genomic RNA replication steps of a picornavirus infection, without impairing the integrity of viral RNA. Ubiquitinated by TRAF6. Belongs to the CCR4/nocturin family. Nonhomologous End-Joining (NHEJ) PE1 6 +NX_O95561 Uncharacterized protein C1orf105 183 21209 9.86 0 NA NA NA NA NA NA PE1 1 +NX_O95562 Vesicle transport protein SFT2B 160 17779 9.34 4 Membrane NA May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex. NA Belongs to the SFT2 family. NA PE1 1 +NX_O95563 Mitochondrial pyruvate carrier 2 127 14279 10.44 3 Mitochondrion inner membrane;Mitochondrion NA Mediates the uptake of pyruvate into mitochondria. NA Belongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family. Pyruvate metabolism PE1 1 +NX_O95567 Uncharacterized protein C22orf31 290 32655 10.06 0 NA NA NA NA NA NA PE2 22 +NX_O95568 Histidine protein methyltransferase 1 homolog 372 42148 6.29 0 Nucleoplasm;Cytosol NA Probable histidine methyltransferase. NA Belongs to the methyltransferase superfamily. METTL18 family. NA PE1 1 +NX_O95571 Persulfide dioxygenase ETHE1, mitochondrial 254 27873 6.35 0 Cytoplasm;Mitochondrion matrix;Mitochondrion;Nucleus Ethylmalonic encephalopathy Sulfur dioxygenase that plays an essential role in hydrogen sulfide catabolism in the mitochondrial matrix. Hydrogen sulfide (H(2)S) is first oxidized by SQRDL, giving rise to cysteine persulfide residues. ETHE1 consumes molecular oxygen to catalyze the oxidation of the persulfide, once it has been transferred to a thiophilic acceptor, such as glutathione (R-SSH). Plays an important role in metabolic homeostasis in mitochondria by metabolizing hydrogen sulfide and preventing the accumulation of supraphysiological H(2)S levels that have toxic effects, due to the inhibition of cytochrome c oxidase. First described as a protein that can shuttle between the nucleus and the cytoplasm and suppress p53-induced apoptosis by sequestering the transcription factor RELA/NFKB3 in the cytoplasm and preventing its accumulation in the nucleus (PubMed:12398897). NA Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family. Sulfide oxidation to sulfate PE1 19 +NX_O95573 Long-chain-fatty-acid--CoA ligase 3 720 80420 8.65 1 Microsome membrane;Mitochondrion outer membrane;Endoplasmic reticulum membrane;Lipid droplet;Peroxisome membrane;Nucleolus NA Acyl-CoA synthetases (ACSL) activates long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:22633490). Required for the incorporation of fatty acids into phosphatidylcholine, the major phospholipid located on the surface of VLDL (very low density lipoproteins) (PubMed:18003621). Has mainly an anabolic role in energy metabolism. Mediates hepatic lipogenesis. Preferentially uses myristate, laurate, arachidonate and eicosapentaenoate as substrates. Both isoforms exhibit the same level of activity (By similarity). NA Belongs to the ATP-dependent AMP-binding enzyme family. Fatty acid metabolism;Metabolic pathways;PPAR signaling pathway;Peroxisome;Adipocytokine signaling pathway;Synthesis of very long-chain fatty acyl-CoAs;Intracellular metabolism of fatty acids regulates insulin secretion PE1 2 +NX_O95600 Krueppel-like factor 8 359 39314 7.19 0 Nucleoplasm;Nucleus NA Transcriptional repressor and activator. Binds to CACCC-boxes promoter elements. Also binds the GT-box of cyclin D1 promoter and mediates cell cycle progression at G(1) phase as a downstream target of focal adhesion kinase (FAK). Sumoylation at Lys-67 represses transcriptional activity and reduces cell cycle progression into the G(1) phase. Has no effect on subcellular location. Belongs to the Sp1 C2H2-type zinc-finger protein family. NA PE1 X +NX_O95602 DNA-directed RNA polymerase I subunit RPA1 1720 194811 6.61 0 Nucleoplasm;Nucleolus;Cytoskeleton Acrofacial dysostosis, Cincinnati type DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Forms the polymerase active center together with the second largest subunit. A single stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol I. A bridging helix emanates from RPA1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol I by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition (By similarity). NA Belongs to the RNA polymerase beta' chain family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;B-WICH complex positively regulates rRNA expression PE1 2 +NX_O95613 Pericentrin 3336 378037 5.4 0 Centrosome Microcephalic osteodysplastic primordial dwarfism 2 Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome. Cleaved during mitotis which leads to removal of CDK5RAP2 from the centrosome and promotes centriole disengagement and subsequent centriole separation (PubMed:22722493, PubMed:25503564). The C-terminal fragment is rapidly degraded following cleavage (PubMed:22722493). NA Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 21 +NX_O95619 YEATS domain-containing protein 4 227 26499 8.4 0 Nucleoplasm;Nucleus membrane;Nucleus NA Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. NA NA HATs acetylate histones;Activation of the TFAP2 (AP-2) family of transcription factors PE1 12 +NX_O95620 tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like 317 35816 7.04 0 Cytosol NA Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs. NA Belongs to the Dus family. Dus4 subfamily. NA PE1 7 +NX_O95622 Adenylate cyclase type 5 1261 138908 6.9 12 Cilium;Cytoskeleton;Cell membrane Dyskinesia, familial, with facial myokymia Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling (PubMed:15385642, PubMed:26206488, PubMed:24700542). Mediates signaling downstream of ADRB1 (PubMed:24700542). Regulates the increase of free cytosolic Ca(2+) in response to increased blood glucose levels and contributes to the regulation of Ca(2+)-dependent insulin secretion (PubMed:24740569). Phosphorylated by RAF1. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Chemokine signaling pathway;Oocyte meiosis;Vascular smooth muscle contraction;Gap junction;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Bile secretion;HTLV-I infection;Dilated cardiomyopathy;G alpha (i) signalling events;G alpha (s) signalling events;Hedgehog 'off' state;PKA activation;PKA activation in glucagon signalling;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;Adrenaline,noradrenaline inhibits insulin secretion;G alpha (z) signalling events;Adenylate cyclase activating pathway;Adenylate cyclase inhibitory pathway PE1 3 +NX_O95625 Zinc finger and BTB domain-containing protein 11 1053 119384 8.93 0 Nucleoplasm;Nucleolus Intellectual developmental disorder, autosomal recessive 69 May be involved in transcriptional regulation. NA NA NA PE1 3 +NX_O95626 Acidic leucine-rich nuclear phosphoprotein 32 family member D 131 14806 4.98 0 NA NA NA NA Belongs to the ANP32 family. NA PE1 12 +NX_O95628 CCR4-NOT transcription complex subunit 4 575 63510 6.58 0 Cytoplasm;Nucleus NA Has E3 ubiquitin ligase activity, promoting ubiquitination and degradation of target proteins (PubMed:11823428, PubMed:22159038, PubMed:26575292). Involved in activation of the JAK/STAT pathway (PubMed:11823428, PubMed:22159038). Catalyzes ubiquitination of methylated RBM15 (PubMed:26575292). Autoubiquitinated. NA Protein modification; protein ubiquitination.;RNA degradation;Deadenylation of mRNA;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 7 +NX_O95630 STAM-binding protein 424 48077 5.89 0 Cytoplasm;Cell membrane;Early endosome;Membrane;Nucleoplasm;Cytosol;Nucleus Microcephaly-capillary malformation syndrome Zinc metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Does not cleave 'Lys-48'-linked polyubiquitin chains (By similarity). Plays a role in signal transduction for cell growth and MYC induction mediated by IL-2 and GM-CSF. Potentiates BMP (bone morphogenetic protein) signaling by antagonizing the inhibitory action of SMAD6 and SMAD7. Has a key role in regulation of cell surface receptor-mediated endocytosis and ubiquitin-dependent sorting of receptors to lysosomes. Endosomal localization of STAMBP is required for efficient EGFR degradation but not for its internalization (By similarity). Involved in the negative regulation of PI3K-AKT-mTOR and RAS-MAP signaling pathways. Phosphorylated after BMP type I receptor activation.;Ubiquitinated by SMURF2 in the presence of RNF11. Belongs to the peptidase M67C family. Endocytosis;Metalloprotease DUBs PE1 2 +NX_O95631 Netrin-1 604 67748 9.1 0 Cytoplasm;Secreted Mirror movements 4 Netrins control guidance of CNS commissural axons and peripheral motor axons. Its association with either DCC or some UNC5 receptors will lead to axon attraction or repulsion, respectively. Binding to UNC5C might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion (PubMed:28483977). Involved in dorsal root ganglion axon projection towards the spinal cord (PubMed:28483977). It also serves as a survival factor via its association with its receptors which prevent the initiation of apoptosis. Involved in tumorigenesis by regulating apoptosis (PubMed:15343335). NA NA Axon guidance;DSCAM interactions;Netrin-1 signaling;Role of second messengers in netrin-1 signaling;Netrin mediated repulsion signals;DCC mediated attractive signaling;Regulation of commissural axon pathfinding by SLIT and ROBO PE1 17 +NX_O95633 Follistatin-related protein 3 263 27663 6.37 0 Nucleoplasm;Secreted;Nucleus NA Or the nuclear form is probably involved in transcriptional regulation via interaction with MLLT10.;Or the secreted form is a binding and antagonizing protein for members of the TGF-beta family, such us activin, BMP2 and MSTN. Inhibits activin A-, activin B-, BMP2- and MSDT-induced cellular signaling; more effective on activin A than on activin B. Involved in bone formation; inhibits osteoclast differentiationc. Involved in hematopoiesis; involved in differentiation of hemopoietic progenitor cells, increases hematopoietic cell adhesion to fibronectin and seems to contribute to the adhesion of hematopoietic precursor cells to the bone marrow stroma. NA NA Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Antagonism of Activin by Follistatin;Post-translational protein phosphorylation PE1 19 +NX_O95639 Cleavage and polyadenylation specificity factor subunit 4 269 30255 8.68 0 Nucleoplasm;Nucleus NA Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. CPSF4 binds RNA polymers with a preference for poly(U). NA Belongs to the CPSF4/YTH1 family. Transport of Mature mRNA Derived from an Intronless Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Processing of Intronless Pre-mRNAs;Inhibition of Host mRNA Processing and RNA Silencing;tRNA processing in the nucleus;RNA Polymerase II Transcription Termination PE1 7 +NX_O95644 Nuclear factor of activated T-cells, cytoplasmic 1 943 101243 6.52 0 Nucleoplasm;Cytoplasm;Nucleus NA Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid and non-lymphoid cells (PubMed:10358178). Required for osteoclastogenesis and regulates many genes important for osteoclast differentiation and function (By similarity). Phosphorylated by NFATC-kinase and GSK3B; phosphorylation induces NFATC1 nuclear exit and dephosphorylation by calcineurin promotes nuclear import. Phosphorylation by PKA and DYRK2 negatively modulates nuclear accumulation, and promotes subsequent phosphorylation by GSK3B or casein kinase 1.;NFATC1 is phosphorylated by PIM1 (Phosphoserine:PTM-0253);NFATC1 is phosphorylated by DYRK1A (Phosphoserine:PTM-0253);NFATC1 is phosphorylated by GSK3B (Phosphoserine:PTM-0253);NFATC1 is phosphorylated by DYRK2 NA Wnt signaling pathway;Axon guidance;VEGF signaling pathway;Osteoclast differentiation;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;HTLV-I infection;FCERI mediated Ca+2 mobilization;Ca2+ pathway;CLEC7A (Dectin-1) induces NFAT activation;Calcineurin activates NFAT PE1 18 +NX_O95661 GTP-binding protein Di-Ras3 229 25861 9.46 0 Cytosol;Nucleus membrane;Cell membrane NA NA NA Belongs to the small GTPase superfamily. Di-Ras family. NA PE1 1 +NX_O95665 Neurotensin receptor type 2 410 45385 9.5 7 Cell membrane NA Receptor for the tridecapeptide neurotensin. It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. NA Belongs to the G-protein coupled receptor 1 family. Neurotensin receptor subfamily. NTSR2 sub-subfamily. Neuroactive ligand-receptor interaction;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 2 +NX_O95670 V-type proton ATPase subunit G 2 118 13604 10.26 0 Melanosome NA Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. NA Belongs to the V-ATPase G subunit family. Oxidative phosphorylation;Metabolic pathways;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE1 6 +NX_O95671 Probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein 621 68857 5.71 0 Cytosol NA Nucleoside triphosphate pyrophosphatase that hydrolyzes dTTP and UTP. Can also hydrolyze CTP and the modified nucleotides pseudo-UTP, 5-methyl-UTP (m(5)UTP) and 5-methyl-CTP (m(5)CTP). Has weak activity with dCTP, 8-oxo-GTP and N(4)-methyl-dCTP (PubMed:24210219). May have a dual role in cell division arrest and in preventing the incorporation of modified nucleotides into cellular nucleic acids (PubMed:24210219). In addition, the presence of the putative catalytic domain of S-adenosyl-L-methionine binding in the C-terminal region argues for a methyltransferase activity (Probable). NA In the N-terminal section; belongs to the Maf family. YhdE subfamily.;In the C-terminal section; belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-independent O-methyltransferase family. NA PE1 X +NX_O95672 Endothelin-converting enzyme-like 1 775 87791 6.58 1 Membrane;Nucleoplasm;Nucleolus;Nucleus membrane Arthrogryposis, distal, 5D May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides. N-glycosylated. Belongs to the peptidase M13 family. NA PE1 2 +NX_O95674 Phosphatidate cytidylyltransferase 2 445 51418 6.64 6 Endoplasmic reticulum;Cytosol;Mitochondrion inner membrane NA Provides CDP-diacylglycerol, an important precursor for the synthesis of phosphatidylinositol, phosphatidylglycerol, and cardiolipin. NA Belongs to the CDS family. Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 3/3.;Glycerophospholipid metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PG PE1 20 +NX_O95677 Eyes absent homolog 4 639 69505 5.04 0 Cytoplasm;Nucleoplasm;Nucleus Deafness, autosomal dominant, 10;Cardiomyopathy, dilated 1J Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By similarity). NA Belongs to the HAD-like hydrolase superfamily. EYA family. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks PE1 6 +NX_O95678 Keratin, type II cytoskeletal 75 551 59560 7.6 0 Cytosol;Cell membrane Loose anagen hair syndrome Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle. NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_O95684 FGFR1 oncogene partner 399 43065 4.67 0 Centrosome;Cilium basal body;Centriole NA Required for anchoring microtubules to the centrosomes (PubMed:16314388, PubMed:28659385). Required for ciliation (PubMed:28625565, PubMed:28659385). NA Belongs to the FGFR1OP family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Signaling by FGFR1 in disease;Signaling by cytosolic FGFR1 fusion mutants;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 6 +NX_O95685 Protein phosphatase 1 regulatory subunit 3D 299 32559 8.44 0 Cytoplasmic vesicle;Mitochondrion;Nucleolus NA Seems to act as a glycogen-targeting subunit for PP1. PP1 is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. NA NA Insulin signaling pathway PE1 20 +NX_O95696 Bromodomain-containing protein 1 1058 119520 8.91 0 Nucleus speckle;Nucleus NA Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. NA NA HATs acetylate histones;Regulation of TP53 Activity through Acetylation PE1 22 +NX_O95704 Amyloid-beta A4 precursor protein-binding family B member 3 486 52585 5.97 0 Cytoplasm;Cytosol;Nucleus;Cytoskeleton NA May modulate the internalization of amyloid-beta precursor protein. NA NA NA PE1 5 +NX_O95707 Ribonuclease P protein subunit p29 220 25425 10.08 0 Nucleolus NA Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends. NA Belongs to the eukaryotic/archaeal RNase P protein component 1 family. Ribosome biogenesis in eukaryotes;RNA transport;tRNA processing in the nucleus PE1 19 +NX_O95711 Lymphocyte antigen 86 162 17906 5.83 0 Extracellular space NA May cooperate with CD180 and TLR4 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) and cytokine production. Important for efficient CD180 cell surface expression (By similarity). NA NA Toll Like Receptor 4 (TLR4) Cascade PE1 6 +NX_O95714 E3 ubiquitin-protein ligase HERC2 4834 527228 5.88 0 Cytoplasm;Centriole;Cell membrane;Cytosol;Nucleus Mental retardation, autosomal recessive 38 E3 ubiquitin-protein ligase that regulates ubiquitin-dependent retention of repair proteins on damaged chromosomes. Recruited to sites of DNA damage in response to ionizing radiation (IR) and facilitates the assembly of UBE2N and RNF8 promoting DNA damage-induced formation of 'Lys-63'-linked ubiquitin chains. Acts as a mediator of binding specificity between UBE2N and RNF8. Involved in the maintenance of RNF168 levels. E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of XPA which influences the circadian oscillation of DNA excision repair activity. By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). Phosphorylation at Thr-4827 is required for interaction with RNF8.;Sumoylated with SUMO1 by PIAS4 in response to double-strand breaks (DSBs), promoting the interaction with RNF8. NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;SUMOylation of DNA damage response and repair proteins;G2/M DNA damage checkpoint;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ) PE1 15 +NX_O95715 C-X-C motif chemokine 14 111 13078 10.1 0 Golgi apparatus;Secreted NA Potent chemoattractant for neutrophils, and weaker for dendritic cells. Not chemotactic for T-cells, B-cells, monocytes, natural killer cells or granulocytes. Does not inhibit proliferation of myeloid progenitors in colony formation assays. Ubiquitinated, followed by degradation by the proteasome. Belongs to the intercrine alpha (chemokine CxC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway PE1 5 +NX_O95716 Ras-related protein Rab-3D 219 24267 4.76 0 Cytoplasmic vesicle;Cell membrane NA Protein transport. Probably involved in regulated exocytosis (By similarity). Phosphorylation of Thr-86 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM and CHML. Belongs to the small GTPase superfamily. Rab family. Pancreatic secretion;Neutrophil degranulation;RAB geranylgeranylation PE1 19 +NX_O95718 Steroid hormone receptor ERR2 433 48054 8.09 0 Cytoplasm;Nucleus;Chromosome Deafness, autosomal recessive, 35 Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5'TCAAGGTCA-3' localized on promoter and enhancer of targets genes regulating their expression or their transcription activity. Positively regulates ESR1 transcriptional activity upon E2 stimulation.;Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5'TCAAGGTCA-3' localized on promoter and enhancer of targets genes regulating their expression or their transcription activity (PubMed:17920186, PubMed:19755138). Plays a role, in a LIF-independent manner, in maintainance of self-renewal and pluripotency of embryonic and trophoblast stem cells through different signaling pathways including FGF signaling pathway and Wnt signaling pathways. Upon FGF signaling pathway activation, interacts with KDM1A by directly binding to enhancer site of ELF5 and EOMES and activating their transcription leading to self-renewal of trophoblast stem cells. Also regulates expression of multiple rod-specific genes and is required for survival of this cell type (By similarity). Plays a role as transcription factor activator of GATA6, NR0B1, POU5F1 and PERM1 (PubMed:23836911). Plays a role as transcription factor repressor of NFE2L2 transcriptional activity and ESR1 transcriptional activity (PubMed:17920186, PubMed:19755138). During mitosis remains bound to a subset of interphase target genes, including pluripotency regulators, through the canonical ESRRB recognition (ERRE) sequence, leading to their transcriptional activation in early G1 phase. Can coassemble on structured DNA elements with other transcription factors like SOX2, POU5F1, KDM1A and NCOA3 to trigger ESRRB-dependent gene activation. This mechanism, in the case of SOX2 corecruitment prevents the embryonic stem cells (ESCs) to epiblast stem cells (EpiSC) transition through positive regulation of NR0B1 that inhibits the EpiSC transcriptional program. Also plays a role inner ear development by controlling expression of ion channels and transporters and in early placentation (By similarity). Acetylated by PCAF/KAT2 (in vitro). Belongs to the nuclear hormone receptor family. NR3 subfamily. Nuclear Receptor transcription pathway PE1 14 +NX_O95721 Synaptosomal-associated protein 29 258 28970 5.56 0 Autophagosome membrane;Cytoplasm;Nucleoplasm;Golgi apparatus membrane;Cilium membrane;Cytosol Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. SNAP29 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane. Plays also a role in ciliogenesis by regulating membrane fusions. NA Belongs to the SNAP-25 family. SNARE interactions in vesicular transport;Intra-Golgi traffic;Neutrophil degranulation PE1 22 +NX_O95727 Cytotoxic and regulatory T-cell molecule 393 44641 6.37 1 Membrane NA Interaction with CADM1 promotes natural killer (NK) cell cytotoxicity and interferon-gamma (IFN-gamma) secretion by CD8+ cells in vitro as well as NK cell-mediated rejection of tumors expressing CADM3 in vivo. NA Belongs to the nectin family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 11 +NX_O95741 Copine-6 557 61991 5.32 0 Cytoplasm;Clathrin-coated vesicle;Cell membrane;Perikaryon;Endosome;Dendrite NA Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes. Binds phospholipid membranes in a calcium-dependent manner (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003). NA Belongs to the copine family. Glycerophospholipid biosynthesis PE1 14 +NX_O95744 Putative postmeiotic segregation increased 2-like protein 2 297 32669 9.52 0 NA NA NA NA Belongs to the DNA mismatch repair MutL/HexB family. NA PE5 7 +NX_O95747 Serine/threonine-protein kinase OSR1 527 58022 6.03 0 Cytoplasm;Cytosol NA Phosphorylates RELL1, RELL2 and RELT (PubMed:16389068, PubMed:28688764). Phosphorylates PAK1 (PubMed:14707132). Phosphorylates PLSCR1 in the presence of RELT (PubMed:22052202). Autophosphorylated. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. NA PE1 3 +NX_O95749 Geranylgeranyl pyrophosphate synthase 300 34871 5.78 0 Cytoplasm NA Catalyzes the trans-addition of the three molecules of IPP onto DMAPP to form geranylgeranyl pyrophosphate, an important precursor of carotenoids and geranylated proteins. NA Belongs to the FPP/GGPP synthase family. Isoprenoid biosynthesis; geranyl diphosphate biosynthesis; geranyl diphosphate from dimethylallyl diphosphate and isopentenyl diphosphate: step 1/1.;Isoprenoid biosynthesis; farnesyl diphosphate biosynthesis; farnesyl diphosphate from geranyl diphosphate and isopentenyl diphosphate: step 1/1.;Isoprenoid biosynthesis; geranylgeranyl diphosphate biosynthesis; geranylgeranyl diphosphate from farnesyl diphosphate and isopentenyl diphosphate: step 1/1.;Terpenoid backbone biosynthesis;Metabolic pathways;Cholesterol biosynthesis;Activation of gene expression by SREBF (SREBP) PE1 1 +NX_O95750 Fibroblast growth factor 19 216 24003 6.55 0 Secreted NA Involved in the suppression of bile acid biosynthesis through down-regulation of CYP7A1 expression, following positive regulation of the JNK and ERK1/2 cascades. Stimulates glucose uptake in adipocytes. Activity requires the presence of KLB and FGFR4. NA Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;FGFR4 ligand binding and activation;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade, FGFR4;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;PI-3K cascade:FGFR4;Negative regulation of FGFR4 signaling;betaKlotho-mediated ligand binding;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 11 +NX_O95751 Protein LDOC1 146 16968 4.11 0 Nucleoplasm;Nucleolus;Nucleus NA May have an important role in the development and/or progression of some cancers. NA Belongs to the LDOC1 family. NA PE1 X +NX_O95754 Semaphorin-4F 770 83511 6.5 1 Cell membrane;Perikaryon;Endoplasmic reticulum;Nucleoplasm;Centrosome;Postsynaptic density;Dendrite NA Probable cell surface receptor that regulates oligodendroglial precursor cell migration (By similarity). Might also regulate differentiation of oligodendroglial precursor cells (By similarity). Has growth cone collapse activity against retinal ganglion-cell axons (By similarity). NA Belongs to the semaphorin family. Axon guidance PE1 2 +NX_O95755 Ras-related protein Rab-36 333 36322 8.05 0 Cytoplasmic vesicle;Golgi apparatus membrane NA Protein transport. Probably involved in vesicular traffic (By similarity). NA Belongs to the small GTPase superfamily. Rab family. Intra-Golgi traffic;RAB geranylgeranylation PE1 22 +NX_O95757 Heat shock 70 kDa protein 4L 839 94512 5.63 0 Cytoplasm;Cytosol;Centrosome;Nucleus NA Possesses chaperone activity in vitro where it inhibits aggregation of citrate synthase. NA Belongs to the heat shock protein 70 family. Protein processing in endoplasmic reticulum;Regulation of HSF1-mediated heat shock response PE1 4 +NX_O95758 Polypyrimidine tract-binding protein 3 552 59690 9.13 0 Nucleoplasm NA RNA-binding protein that mediates pre-mRNA alternative splicing regulation. Plays a role in the regulation of cell proliferation, differentiation and migration. Positive regulator of EPO-dependent erythropoiesis. Participates in cell differentiation regulation by repressing tissue-specific exons. Promotes FAS exon 6 skipping. Binds RNA, preferentially to both poly(G) and poly(U). NA NA NA PE1 9 +NX_O95759 TBC1 domain family member 8 1140 130835 5.32 0 Nucleoplasm NA May act as a GTPase-activating protein for Rab family protein(s). NA NA NA PE1 2 +NX_O95760 Interleukin-33 270 30759 8.89 0 Nucleus;Secreted;Secretory vesicle;Chromosome NA Cytokine that binds to and signals through the IL1RL1/ST2 receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells (PubMed:16286016). Involved in the maturation of Th2 cells inducing the secretion of T-helper type 2-associated cytokines. Also involved in activation of mast cells, basophils, eosinophils and natural killer cells. Acts as a chemoattractant for Th2 cells, and may function as an 'alarmin', that amplifies immune responses during tissue injury (PubMed:17853410, PubMed:18836528).;In quiescent endothelia the uncleaved form is constitutively and abundantly expressed, and acts as a chromatin-associated nuclear factor with transcriptional repressor properties, it may sequester nuclear NF-kappaB/RELA, lowering expression of its targets (PubMed:21734074). This form is rapidely lost upon angiogenic or proinflammatory activation (PubMed:18787100). The full-length protein can be released from cells and is able to signal via the IL1RL1/ST2 receptor. However, proteolytic processing by CSTG/cathepsin G and ELANE/neutrophil elastase produces C-terminal peptides that are more active than the unprocessed full length protein. May also be proteolytically processed by calpains (PubMed:19596270). Proteolytic cleavage mediated by apoptotic caspases including CASP3 and CASP7 results in IL33 inactivation (PubMed:19559631). In vitro proteolytic cleavage by CASP1 was reported (PubMed:16286016) but could not be confirmed in vivo (PubMed:19465481) suggesting that IL33 is probably not a direct substrate for that caspase. Belongs to the IL-1 family. Highly divergent. Cytosolic DNA-sensing pathway;Influenza A;PIP3 activates AKT signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Ub-specific processing proteases;Interleukin-33 signaling PE1 9 +NX_O95772 STARD3 N-terminal-like protein 234 26655 4.75 4 Cytoplasmic vesicle;Late endosome membrane NA Tethering protein that creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB (PubMed:24105263). NA Belongs to the STARD3 family. Pregnenolone biosynthesis PE1 7 +NX_O95777 U6 snRNA-associated Sm-like protein LSm8 96 10403 4.34 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320). NA Belongs to the snRNP Sm proteins family. RNA degradation;Spliceosome;mRNA Splicing - Major Pathway PE1 7 +NX_O95780 Zinc finger protein 682 498 58361 9.22 0 Golgi apparatus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_O95782 AP-2 complex subunit alpha-1 977 107546 6.63 0 Coated pit;Cytoplasmic vesicle;Cell membrane NA Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). The AP-2 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity). AP2A1 is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the adaptor complexes large subunit family. Endocytosis;Synaptic vesicle cycle;Endocrine and other factor-regulated calcium reabsorption;Huntington's disease;MHC class II antigen presentation;EPH-ephrin mediated repulsion of cells;Retrograde neurotrophin signalling;Recycling pathway of L1;Nef Mediated CD8 Down-regulation;WNT5A-dependent internalization of FZD4;Nef Mediated CD4 Down-regulation;Trafficking of GluR2-containing AMPA receptors;WNT5A-dependent internalization of FZD2, FZD5 and ROR2;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;VLDLR internalisation and degradation;LDL clearance PE1 19 +NX_O95785 Protein Wiz 1651 178674 6.4 0 Midbody;Nucleoplasm;Nucleus NA May link EHMT1 and EHMT2 histone methyltransferases to the CTBP corepressor machinery. May be involved in EHMT1-EHMT2 heterodimer formation and stabilization (By similarity). NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_O95786 Probable ATP-dependent RNA helicase DDX58 925 106600 6.03 0 Cytoplasm;Cell membrane;Tight junction;Ruffle membrane;Cytosol;Cytoskeleton Singleton-Merten syndrome 2 Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and proinflammatory cytokines. Its ligands include: 5'-triphosphorylated ssRNA and dsRNA and short dsRNA (<1 kb in length). In addition to the 5'-triphosphate moiety, blunt-end base pairing at the 5'-end of the RNA is very essential. Overhangs at the non-triphosphorylated end of the dsRNA RNA have no major impact on its activity. A 3'overhang at the 5'triphosphate end decreases and any 5'overhang at the 5' triphosphate end abolishes its activity. Upon ligand binding it associates with mitochondria antiviral signaling protein (MAVS/IPS1) which activates the IKK-related kinases: TBK1 and IKBKE which phosphorylate interferon regulatory factors: IRF3 and IRF7 which in turn activate transcription of antiviral immunological genes, including interferons (IFNs); IFN-alpha and IFN-beta. Detects both positive and negative strand RNA viruses including members of the families Paramyxoviridae: Human respiratory syncytial virus and measles virus (MeV), Rhabdoviridae: vesicular stomatitis virus (VSV), Orthomyxoviridae: influenza A and B virus, Flaviviridae: Japanese encephalitis virus (JEV), hepatitis C virus (HCV), dengue virus (DENV) and west Nile virus (WNV). It also detects rotavirus and reovirus. Also involved in antiviral signaling in response to viruses containing a dsDNA genome such as Epstein-Barr virus (EBV). Detects dsRNA produced from non-self dsDNA by RNA polymerase III, such as Epstein-Barr virus-encoded RNAs (EBERs). May play important roles in granulocyte production and differentiation, bacterial phagocytosis and in the regulation of cell migration. Sumoylated, probably by MUL1; inhibiting its polyubiquitination.;Phosphorylated in resting cells and dephosphorylated in RNA virus-infected cells. Phosphorylation at Thr-770, Ser-854 and Ser-855 results in inhibition of its activity while dephosphorylation at these sites results in its activation.;(Microbial infection) Deamidated on 'Asn-495' and 'Asn-549' by herpes simplex virus 1 protein UL37. These modifications eliminate DDX58 detection of viral RNA and restriction of viral replication.;ISGylated. Conjugated to ubiquitin-like protein ISG15 upon IFN-beta stimulation. ISGylation negatively regulates its function in antiviral signaling response.;Ubiquitinated. Undergoes 'Lys-48'- and 'Lys-63'-linked ubiquitination. Lys-172 is the critical site for TRIM25-mediated ubiquitination, for MAVS/IPS1 binding and to induce anti-viral signal transduction (PubMed:17392790, PubMed:30193849). Lys-154, Lys-164 and Lys-172 are critical sites for RNF135-mediated and TRIM4-mediated ubiquitination (PubMed:19017631, PubMed:19484123, PubMed:24755855). Deubiquitinated by CYLD, a protease that selectively cleaves 'Lys-63'-linked ubiquitin chains (PubMed:18636086). Also probably deubiquitinated by USP17L2/USP17 that cleaves 'Lys-48'-and 'Lys-63'-linked ubiquitin chains and positively regulates the receptor (PubMed:20368735). Ubiquitinated at Lys-181 by RNF125, leading to its degradation: ubiquitination takes place upon viral infection and is enhanced 'Lys-63'-linked ubiquitination of the CARD domains, which promote interaction with VCP/p97 and subsequent recruitment of RNF125 (PubMed:17460044, PubMed:26471729). Ubiquitinated at Lys-812 by CBL, leading to its degradation: ubiquitination takes place upon viral infection and involves 'Lys-48'-linked ubiquitination (By similarity). Belongs to the helicase family. RLR subfamily. RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Hepatitis C;Measles;Influenza A;Herpes simplex infection;ISG15 antiviral mechanism;TRAF6 mediated IRF7 activation;TRAF6 mediated NF-kB activation;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Negative regulators of DDX58/IFIH1 signaling;TRAF3-dependent IRF activation pathway;NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10;Ub-specific processing proteases;Ovarian tumor domain proteases;OAS antiviral response PE1 9 +NX_O95789 Zinc finger MYM-type protein 6 1325 148089 8.59 0 Nucleoplasm;Nucleus NA Plays a role in the regulation of cell morphology and cytoskeletal organization. NA NA NA PE1 1 +NX_O95793 Double-stranded RNA-binding protein Staufen homolog 1 577 63182 9.46 0 Cytoplasm;Cytosol;Rough endoplasmic reticulum NA (Microbial infection) Plays a role in virus particles production of many viruses including of HIV-1, HERV-K, ebola virus and influenza virus. Acts by interacting with various viral proteins involved in particle budding process.;Binds double-stranded RNA (regardless of the sequence) and tubulin. May play a role in specific positioning of mRNAs at given sites in the cell by cross-linking cytoskeletal and RNA components, and in stimulating their translation at the site. NA NA NA PE1 20 +NX_O95800 Probable G-protein coupled receptor 75 540 59359 9.28 7 Cell membrane NA G protein-coupled receptor that is activated by the chemokine CCL5/RANTES. Probably coupled to heterotrimeric Gq proteins, it stimulates inositol trisphosphate production and calcium mobilization upon activation. Together with CCL5/RANTES, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. CCL5/RANTES may also regulate insulin secretion by pancreatic islet cells through activation of this receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 2 +NX_O95801 Tetratricopeptide repeat protein 4 387 44679 5.43 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA May act as a co-chaperone for HSP90AB1 (PubMed:18320024). Promotes Sendai virus (SeV)-induced host cell innate immune responses (PubMed:29251827). NA Belongs to the TTC4 family. NA PE1 1 +NX_O95803 Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3 873 100902 8.21 1 Golgi apparatus membrane NA Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Has high deacetylase activity but low sulfotransferase activity. NA Belongs to the sulfotransferase 1 family. NDST subfamily. Glycan metabolism; heparan sulfate biosynthesis.;Glycan metabolism; heparin biosynthesis.;Glycosaminoglycan biosynthesis - heparan sulfate;Metabolic pathways;HS-GAG biosynthesis PE2 4 +NX_O95807 Transmembrane protein 50A 157 17400 5.57 4 Cell membrane;Membrane;Endoplasmic reticulum;Cytosol;Cytoskeleton NA NA NA Belongs to the UPF0220 family. NA PE1 1 +NX_O95810 Caveolae-associated protein 2 425 47173 5.14 0 Cytosol;Caveola;Cell membrane NA Plays an important role in caveolar biogenesis and morphology. Regulates caveolae morphology by inducing membrane curvature within caveolae (PubMed:19525939). Plays a role in caveola formation in a tissue-specific manner. Required for the formation of caveolae in the lung and fat endothelia but not in the heart endothelia. Negatively regulates the size or stability of CAVIN complexes in the lung endothelial cells. May play a role in targeting PRKCA to caveolae (By similarity). Phosphorylated on Ser residues. Belongs to the CAVIN family. NA PE1 2 +NX_O95813 Cerberus 267 30084 7.7 0 Secreted NA Cytokine that may play a role in anterior neural induction and somite formation during embryogenesis in part through a BMP-inhibitory mechanism. Can regulate Nodal signaling during gastrulation as well as the formation and patterning of the primitive streak (By similarity). N-glycosylated. Belongs to the DAN family. Wnt signaling pathway;Signaling by BMP;Signaling by NODAL;Regulation of signaling by NODAL PE1 9 +NX_O95816 BAG family molecular chaperone regulator 2 211 23772 6.25 0 Cytoplasm;Nucleoplasm NA Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release (PubMed:24318877, PubMed:9873016). NA NA Protein processing in endoplasmic reticulum;Regulation of HSF1-mediated heat shock response PE1 6 +NX_O95817 BAG family molecular chaperone regulator 3 575 61595 6.46 0 Cytoplasm;Cytosol;Nucleus;Cell membrane Cardiomyopathy, dilated 1HH;Myopathy, myofibrillar, 6 Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release. Nucleotide release is mediated via its binding to the nucleotide-binding domain (NBD) of HSPA8/HSC70 where as the substrate release is mediated via its binding to the substrate-binding domain (SBD) of HSPA8/HSC70 (PubMed:9873016, PubMed:27474739). Has anti-apoptotic activity (PubMed:10597216). Plays a role in the HSF1 nucleocytoplasmic transport (PubMed:26159920). NA NA Regulation of HSF1-mediated heat shock response PE1 10 +NX_O95819 Mitogen-activated protein kinase kinase kinase kinase 4 1239 142101 7.09 0 Cytoplasm NA Serine/threonine kinase that may play a role in the response to environmental stress and cytokines such as TNF-alpha. Appears to act upstream of the JUN N-terminal pathway. Phosphorylates SMAD1 on Thr-322. NA Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. MAPK signaling pathway;Oxidative Stress Induced Senescence PE1 2 +NX_O95822 Malonyl-CoA decarboxylase, mitochondrial 493 55003 9.11 0 Cytoplasm;Mitochondrion matrix;Peroxisome;Peroxisome matrix Malonyl-CoA decarboxylase deficiency Catalyzes the conversion of malonyl-CoA to acetyl-CoA. In the fatty acid biosynthesis MCD selectively removes malonyl-CoA and thus assures that methyl-malonyl-CoA is the only chain elongating substrate for fatty acid synthase and that fatty acids with multiple methyl side chains are produced. In peroxisomes it may be involved in degrading intraperoxisomal malonyl-CoA, which is generated by the peroxisomal beta-oxidation of odd chain-length dicarboxylic fatty acids. Plays a role in the metabolic balance between glucose and lipid oxidation in muscle independent of alterations in insulin signaling. May play a role in controlling the extent of ischemic injury by promoting glucose oxidation. Acetylation at Lys-472 activates malonyl-CoA decarboxylase activity. Deacetylation at Lys-472 by SIRT4 represses activity, leading to promote lipogenesis (By similarity).;Interchain disulfide bonds may form in peroxisomes (Potential). Interchain disulfide bonds are not expected to form in the reducing environment of the cytoplasm and mitochondria. NA Metabolic intermediate biosynthesis; acetyl-CoA biosynthesis; acetyl-CoA from malonyl-CoA: step 1/1.;beta-Alanine metabolism;Propanoate metabolism;Metabolic pathways;Peroxisome;Beta-oxidation of very long chain fatty acids;Peroxisomal protein import PE1 16 +NX_O95825 Quinone oxidoreductase-like protein 1 349 38697 5.49 0 Nucleoplasm;Cytosol NA NA NA Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily. NA PE1 21 +NX_O95831 Apoptosis-inducing factor 1, mitochondrial 613 66901 9.04 0 Cytoplasm;Mitochondrion intermembrane space;Mitochondrion inner membrane;Perinuclear region;Nucleus Deafness, X-linked, 5;Combined oxidative phosphorylation deficiency 6;Cowchock syndrome Functions both as NADH oxidoreductase and as regulator of apoptosis. In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytosol and to the nucleus, where it functions as a proapoptotic factor in a caspase-independent pathway. In contrast, functions as an antiapoptotic factor in normal mitochondria via its NADH oxidoreductase activity. The soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. Caspase-independent fragmentation of chromosomal DNA. Interacts with EIF3G, and thereby inhibits the EIF3 machinery and protein synthesis, and activates casapse-7 to amplify apoptosis. Plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposed cells. Binds to DNA in a sequence-independent manner. Ubiquitination by XIAP/BIRC4 does not lead to proteasomal degradation. Ubiquitination at Lys-255 by XIAP/BIRC4 blocks its ability to bind DNA and induce chromatin degradation, thereby inhibiting its ability to induce cell death.;Under normal conditions, a 54-residue N-terminal segment is first proteolytically removed during or just after translocation into the mitochondrial intermembrane space (IMS) by the mitochondrial processing peptidase (MPP) to form the inner-membrane-anchored mature form (AIFmit). During apoptosis, it is further proteolytically processed at amino-acid position 101 leading to the generation of the mature form, which is confined to the mitochondrial IMS in a soluble form (AIFsol). AIFsol is released to the cytoplasm in response to specific death signals, and translocated to the nucleus, where it induces nuclear apoptosis in a caspase-independent manner. Belongs to the FAD-dependent oxidoreductase family. Glutathione metabolism;Apoptosis PE1 X +NX_O95832 Claudin-1 211 22744 8.41 4 Basolateral cell membrane;Tight junction;Cell membrane Ichthyosis-sclerosing cholangitis neonatal syndrome (Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes (PubMed:17325668, PubMed:20375010). Associates with CD81 and the CLDN1-CD81 receptor complex is essential for HCV entry into host cell (PubMed:20375010). Acts as a receptor for dengue virus (PubMed:24074594).;Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. While some claudin family members play essential roles in the formation of impermeable barriers, others mediate the permeability to ions and small molecules. Often, several claudin family members are coexpressed and interact with each other, and this determines the overall permeability. CLDN1 is required to prevent the paracellular diffusion of small molecules through tight junctions in the epidermis and is required for the normal barrier function of the skin. Required for normal water homeostasis and to prevent excessive water loss through the skin, probably via an indirect effect on the expression levels of other proteins, since CLDN1 itself seems to be dispensable for water barrier formation in keratinocyte tight junctions (PubMed:23407391). NA Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Pathogenic Escherichia coli infection;Hepatitis C;Tight junction interactions PE1 3 +NX_O95833 Chloride intracellular channel protein 3 236 26648 5.99 1 Membrane;Cytoplasm;Nucleus NA Can insert into membranes and form chloride ion channels. May participate in cellular growth control. NA Belongs to the chloride channel CLIC family. NA PE1 9 +NX_O95834 Echinoderm microtubule-associated protein-like 2 649 70679 5.86 0 Cytoplasmic vesicle;Spindle;Cytoskeleton NA Tubulin binding protein that inhibits microtubule nucleation and growth, resulting in shorter microtubules. NA Belongs to the WD repeat EMAP family. NA PE1 19 +NX_O95835 Serine/threonine-protein kinase LATS1 1130 126870 8.84 0 Nucleoplasm;Centrosome;Cytoplasmic vesicle NA Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Acts as a tumor suppressor which plays a critical role in maintenance of ploidy through its actions in both mitotic progression and the G1 tetraploidy checkpoint. Negatively regulates G2/M transition by down-regulating CDK1 kinase activity. Involved in the control of p53 expression. Affects cytokinesis by regulating actin polymerization through negative modulation of LIMK1. May also play a role in endocrine function. Plays a role in mammary gland epithelial cells differentiation, both through the Hippo signaling pathway and the intracellular estrogen receptor signaling pathway by promoting the degradation of ESR1 (PubMed:28068668). Autophosphorylated and phosphorylated during M-phase of the cell cycle. Phosphorylated by STK3/MST2 at Ser-909 and Thr-1079, which results in its activation. Phosphorylation at Ser-464 by NUAK1 and NUAK2 leads to decreased protein level and is required to regulate cellular senescence and cellular ploidy. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. Signaling by Hippo PE1 6 +NX_O95837 Guanine nucleotide-binding protein subunit alpha-14 355 41571 5.81 0 NA NA Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. NA Belongs to the G-alpha family. G(q) subfamily. Calcium signaling pathway;Chagas disease (American trypanosomiasis);Amoebiasis;G alpha (q) signalling events;ADP signalling through P2Y purinoceptor 1;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion;Acetylcholine regulates insulin secretion PE1 9 +NX_O95838 Glucagon-like peptide 2 receptor 553 63001 9.1 7 Cell membrane NA This is a receptor for glucagon-like peptide 2. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. NA Belongs to the G-protein coupled receptor 2 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Glucagon-type ligand receptors PE1 17 +NX_O95841 Angiopoietin-related protein 1 491 56720 8.42 0 Secreted NA NA NA NA NA PE1 1 +NX_O95843 Guanylyl cyclase-activating protein 3 209 23822 4.95 0 Focal adhesion NA Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low and inhibits guanylyl cyclases when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of guanylyl cyclase (GC) is a key event in recovery of the dark state of rod photoreceptors following light exposure. NA NA Olfactory transduction;Phototransduction;Inactivation, recovery and regulation of the phototransduction cascade PE1 3 +NX_O95847 Mitochondrial uncoupling protein 4 323 36064 9.15 6 Mitochondrion inner membrane;Mitochondrion NA UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation from ATP synthesis. As a result, energy is dissipated in the form of heat. May play a role in thermoregulatory heat production and metabolism in brain. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. The fatty acid cycling model;The proton buffering model PE1 6 +NX_O95848 Uridine diphosphate glucose pyrophosphatase NUDT14 222 24118 4.95 0 Cytoplasm;Nucleolus;Cytoskeleton NA Hydrolyzes UDP-glucose to glucose 1-phosphate and UMP and ADP-ribose to ribose 5-phosphate and AMP. The physiological substrate is probably UDP-glucose. Poor activity on other substrates such as ADP-glucose, CDP-glucose, GDP-glucose and GDP-mannose. NA Belongs to the Nudix hydrolase family. Synthesis of dolichyl-phosphate-glucose PE1 14 +NX_O95857 Tetraspanin-13 204 22147 8.27 4 Membrane;Nucleoplasm NA NA NA Belongs to the tetraspanin (TM4SF) family. NA PE1 7 +NX_O95858 Tetraspanin-15 294 33165 5.3 4 Nucleoplasm;Cytosol;Late endosome membrane;Cell membrane NA Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10 (PubMed:26686862, PubMed:30463011). Promotes ADAM10-mediated cleavage of CDH2 (By similarity). Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity (PubMed:26686862). NA Belongs to the tetraspanin (TM4SF) family. Amyloid fiber formation PE1 10 +NX_O95859 Tetraspanin-12 305 35383 5.72 4 Cytoplasmic vesicle;Cell membrane;Cytoskeleton Vitreoretinopathy, exudative 5 Regulator of cell surface receptor signal transduction. Plays a central role in retinal vascularization by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization and subsequent activation of FZD4, leading to promote accumulation of beta-catenin (CTNNB1) and stimulate LEF/TCF-mediated transcriptional programs. Suprisingly, it only activate the norrin (NDP)-dependent activation of FZD4, while it does not activate the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1) (By similarity). Acts as a regulator of membrane proteinases such as ADAM10 and MMP14/MT1-MMP. Activates ADAM10-dependent cleavage activity of amyloid precursor protein (APP). Activates MMP14/MT1-MMP-dependent cleavage activity. Palmitoylated; required for interaction with ADAM10. The precise position of palmitoylated residues is unclear and occurs either on Cys-9, Cys-12 and/or Cys-83. Belongs to the tetraspanin (TM4SF) family. NA PE1 7 +NX_O95861 3'(2'),5'-bisphosphate nucleotidase 1 308 33392 5.46 0 Nucleus speckle NA Converts adenosine 3'-phosphate 5'-phosphosulfate (PAPS) to adenosine 5'-phosphosulfate (APS) and 3'(2')-phosphoadenosine 5'- phosphate (PAP) to AMP. Has 1000-fold lower activity towards inositol 1,4-bisphosphate (Ins(1,4)P2) and inositol 1,3,4-trisphosphate (Ins(1,3,4)P3), but does not hydrolyze Ins(1)P, Ins(3,4)P2, Ins(1,3,4,5)P4 or InsP6. NA Belongs to the inositol monophosphatase superfamily. Sulfur metabolism;Metabolic pathways;Cytosolic sulfonation of small molecules PE1 1 +NX_O95863 Zinc finger protein SNAI1 264 29083 8.97 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Involved in induction of the epithelial to mesenchymal transition (EMT), formation and maintenance of embryonic mesoderm, growth arrest, survival and cell migration. Binds to 3 E-boxes of the E-cadherin/CDH1 gene promoter and to the promoters of CLDN7 and KRT8 and, in association with histone demethylase KDM1A which it recruits to the promoters, causes a decrease in dimethylated H3K4 levels and represses transcription (PubMed:20389281, PubMed:20562920). The N-terminal SNAG domain competes with histone H3 for the same binding site on the histone demethylase complex formed by KDM1A and RCOR1, and thereby inhibits demethylation of histone H3 at 'Lys-4' (in vitro) (PubMed:20389281, PubMed:21300290, PubMed:23721412). During EMT, involved with LOXL2 in negatively regulating pericentromeric heterochromatin transcription (By similarity). SNAI1 recruits LOXL2 to pericentromeric regions to oxidize histone H3 and repress transcription which leads to release of heterochromatin component CBX5/HP1A, enabling chromatin reorganization and acquisition of mesenchymal traits (By similarity). Associates with EGR1 and SP1 to mediate tetradecanoyl phorbol acetate (TPA)-induced up-regulation of CDKN2B, possibly by binding to the CDKN2B promoter region 5'-TCACA-3. In addition, may also activate the CDKN2B promoter by itself. ADP-ribosylation by PARP1 increases protein half-life and may be involved in TGFB-induced SNAI1 up-regulation.;O-GlcNAcylation at Ser-112 is enhanced in hyperglycaemic conditions, it opposes phosphorylation by GSK3B, and stabilizes the protein.;Phosphorylated by GSK3B. Once phosphorylated, it becomes a target for BTRC ubiquitination. Phosphorylation by CSNK1E, probably at Ser-104, provides the priming site for the subsequent phosphorylation by GSK3B, probably at Ser-100 and Ser-96. Phosphorylation by PAK1 may modulate its transcriptional activity by promoting increased accumulation in the nucleus. Phosphorylation at Ser-11 and Ser-92 positively regulates its functions in induction of EMT and cell survival, respectively. Phosphorylation by LATS2, upon mitotic stress, oncogenic stress or Hippo pathway activation, occurs in the nucleus and promotes nuclear retention and stabilization of total cellular protein level.;Ubiquitinated on Lys-98, Lys-137 and Lys-146 by FBXL14 and BTRC leading to degradation. BTRC-triggered ubiquitination requires previous GSK3B-mediated SNAI1 phosphorylation. Ubiquitination induced upon interaction with NOTCH1 or TP53/p53 is mediated by MDM2. Belongs to the snail C2H2-type zinc-finger protein family. Regulation of PTEN gene transcription PE1 20 +NX_O95864 Acyl-CoA 6-desaturase 444 52259 8.86 4 Endoplasmic reticulum membrane NA Acts as a fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 6 of the fatty acyl chain. Involved in biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors. Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleate (GLA) (18:3n-6) and stearidonate (18:4n-3), respectively (PubMed:12713571). Subsequently, in the biosynthetic pathway of HUFA n-3 series, desaturates tetracosapentaenoate (24:5n-3) to tetracosahexaenoate (24:6n-3), which is then converted to docosahexaenoate (DHA)(22:6n-3), an important lipid for nervous system function (By similarity). Desaturates palmitate to produce the mono-unsaturated fatty acid sapienate, the most abundant fatty acid in sebum (PubMed:12713571). Also desaturates (11E)-octadecenoate (trans-vaccenoate)(18:1n-9), a metabolite in the biohydrogenation pathway of LA (18:2n-6) (By similarity). NA Belongs to the fatty acid desaturase type 1 family. Lipid metabolism; polyunsaturated fatty acid biosynthesis.;alpha-Linolenic acid metabolism;Biosynthesis of unsaturated fatty acids;PPAR signaling pathway;Linoleic acid (LA) metabolism;alpha-linolenic acid (ALA) metabolism PE1 11 +NX_O95865 N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 285 29644 5.66 0 Cytoplasm;Cytosol;Centriolar satellite;Mitochondrion NA Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) and N(G)-monomethyl-L-arginine (MMA) which act as inhibitors of NOS. Has therefore a role in the regulation of nitric oxide generation. NA Belongs to the DDAH family. eNOS activation PE1 6 +NX_O95866 Megakaryocyte and platelet inhibitory receptor G6b 241 26163 9.68 1 Golgi apparatus;Endoplasmic reticulum;Cytosol;Cell membrane Thrombocytopenia, anemia, and myelofibrosis May be the activating counterpart of isoform B.;Inhibitory receptor that acts as a critical regulator of hematopoietic lineage differentiation, megakaryocyte function and platelet production (PubMed:12665801, PubMed:17311996, PubMed:27743390). Inhibits platelet aggregation and activation by agonists such as ADP and collagen-related peptide (PubMed:12665801). This regulation of megakaryocate function as well as platelet production ann activation is done through the inhibition (via the 2 ITIM motifs) of the receptors CLEC1B and GP6:FcRgamma signaling (PubMed:17311996). Appears to operate in a calcium-independent manner (PubMed:12665801).;Displayed in this entry, is the only isoform to contain both a transmembrane region and 2 immunoreceptor tyrosine-based inhibitor motifs (ITIMs) and, thus, the only one which probably has a role of inhibitory receptor. Phosphorylated.;Is O-glycosylated.;All isoforms are N-glycosylated. NA GPVI-mediated activation cascade PE1 6 +NX_O95867 Lymphocyte antigen 6 complex locus protein G6c 125 13821 8.53 0 Cell membrane NA NA N-glycosylated. NA Post-translational modification: synthesis of GPI-anchored proteins PE1 6 +NX_O95868 Lymphocyte antigen 6 complex locus protein G6d 133 13691 6.56 0 Filopodium;Cell membrane NA NA O-glycosylated. NA Post-translational modification: synthesis of GPI-anchored proteins PE1 6 +NX_O95870 Phosphatidylserine lipase ABHD16A 558 63243 8.39 2 Membrane NA Phosphatidylserine (PS) lipase that mediates the hydrolysis of phosphatidylserine to generate lysophosphatidylserine (LPS) (By similarity). LPS constitutes a class of signaling lipids that regulates immunological and neurological processes (By similarity). Has no activity towards diacylglycerol, triacylglycerol or lysophosphatidylserine lipase (PubMed:25290914). Also has monoacylglycerol lipase activity, with preference for 1-(9Z,12Z-octadecadienoyl)-glycerol (1-LG) and 2-glyceryl-15-deoxy-Delta(12,14)-prostaglandin J2 (15d-PGJ(2)-G) (PubMed:25290914). NA Belongs to the AB hydrolase superfamily. ABHD16 family. NA PE1 6 +NX_O95872 G patch domain and ankyrin repeat-containing protein 1 356 39314 8.36 0 Endoplasmic reticulum NA NA NA NA NA PE1 6 +NX_O95873 Uncharacterized protein C6orf47 294 31710 5.95 0 Cytosol NA NA NA NA NA PE1 6 +NX_O95876 WD repeat-containing and planar cell polarity effector protein fritz homolog 746 85084 5.97 0 Cell junction;Cilium axoneme;Cilium basal body;Cell membrane Congenital heart defects, hamartomas of tongue, and polysyndactyly;Bardet-Biedl syndrome 15 Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Together with FUZ and WDPCP proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (By similarity). NA Belongs to the WD repeat fritz family. NA PE1 2 +NX_O95881 Thioredoxin domain-containing protein 12 172 19206 5.25 0 Endoplasmic reticulum lumen NA Possesses significant protein thiol-disulfide oxidase activity. NA NA Glutathione metabolism PE1 1 +NX_O95886 Disks large-associated protein 3 979 106040 8.99 0 Postsynaptic density;Synapse;Cell membrane NA May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane. NA Belongs to the SAPAP family. Neurexins and neuroligins PE1 1 +NX_O95897 Noelin-2 454 51386 8.06 0 Cytoplasm;Secreted;Membrane;Nucleoplasm;Synapse;Nucleus NA Involved in transforming growth factor beta (TGF-beta)-induced smooth muscle differentiation. TGF-beta induces expression and translocation of OLFM2 to the nucleus where it binds to SRF, causing its dissociation from the transcriptional repressor HEY2/HERP1 and facilitating binding of SRF to target genes (PubMed:25298399). Plays a role in AMPAR complex organization (By similarity). Is a regulator of vascular smooth-muscle cell (SMC) phenotypic switching, that acts by promoting RUNX2 and inhibiting MYOCD binding to SRF. SMC phenotypic switching is the process through which vascular SMCs undergo transition between a quiescent contractile phenotype and a proliferative synthetic phenotype in response to pathological stimuli. SMC phenotypic plasticity is essential for vascular development and remodeling (By similarity). N-glycosylated. NA NA PE1 19 +NX_O95900 Mitochondrial mRNA pseudouridine synthase TRUB2 331 36694 9.12 0 Mitochondrion matrix NA Minor enzyme contributing to the isomerization of uridine to pseudouridine (pseudouridylation) of specific mitochondrial mRNAs (mt-mRNAs) such as COXI and COXIII mt-mRNAs (PubMed:27974379). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation (PubMed:27667664). NA Belongs to the pseudouridine synthase TruB family. NA PE1 9 +NX_O95905 Protein ecdysoneless homolog 644 72758 4.75 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Regulator of p53/TP53 stability and function. Inhibits MDM2-mediated degradation of p53/TP53 possibly by cooperating in part with TXNIP (PubMed:16849563, PubMed:23880345). May be involved transcriptional regulation. In vitro has intrinsic transactivation activity enhanced by EP300. May be a transcriptional activator required for the expression of glycolytic genes (PubMed:19919181, PubMed:9928932). Involved in regulation of cell cycle progression. Proposed to disrupt Rb-E2F binding leading to transcriptional activation of E2F proteins (PubMed:19640839). The cell cycle -regulating function may depend on its RUVBL1-mediated association with the R2TP complex (PubMed:26711270). May play a role in regulation of pre-mRNA splicing (PubMed:24722212). Phosphorylated predominantly by CK2 on two serine-containing clusters; involved in cell cycle regulation activity. Belongs to the ECD family. NA PE1 10 +NX_O95907 Monocarboxylate transporter 3 504 52319 5.53 12 Focal adhesion;Cell membrane;Cytoskeleton NA Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity). NA Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. Pyruvate metabolism;Basigin interactions;Proton-coupled monocarboxylate transport PE1 22 +NX_O95918 Olfactory receptor 2H2 312 34763 8.51 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 6 +NX_O95922 Probable tubulin polyglutamylase TTLL1 423 48988 8.87 0 Mitochondrion;Nucleolus;Cytoskeleton NA Catalytic subunit of the neuronal tubulin polyglutamylase complex. Modifies alpha- and beta-tubulin, generating side chains of glutamate on the gamma-carboxyl groups of specific glutamate residues within the C-terminal tail of alpha- and beta-tubulin (By similarity). NA Belongs to the tubulin polyglutamylase family. Carboxyterminal post-translational modifications of tubulin PE1 22 +NX_O95925 Eppin 133 15284 8.52 0 Cell surface;Secreted NA Serine protease inhibitor that plays an essential role in male reproduction and fertility. Modulates the hydrolysis of SEMG1 by KLK3/PSA (a serine protease), provides antimicrobial protection for spermatozoa in the ejaculate coagulum, and binds SEMG1 thereby inhibiting sperm motility. NA NA Antimicrobial peptides PE1 20 +NX_O95926 Pre-mRNA-splicing factor SYF2 243 28722 8.38 0 Nucleus speckle;Nucleus NA Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). NA Belongs to the SYF2 family. Spliceosome;mRNA Splicing - Major Pathway PE1 1 +NX_O95931 Chromobox protein homolog 7 251 28341 9.46 0 Nucleoplasm;Cytosol;Nucleus NA Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Promotes histone H3 trimethylation at 'Lys-9' (H3K9me3). Binds to trimethylated lysine residues in histones, and possibly also other proteins. Regulator of cellular lifespan by maintaining the repression of CDKN2A, but not by inducing telomerase activity. NA NA NA PE1 22 +NX_O95932 Protein-glutamine gamma-glutamyltransferase 6 706 79312 6.85 0 Cytoplasm Spinocerebellar ataxia 35 Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. NA Belongs to the transglutaminase superfamily. Transglutaminase family. NA PE1 20 +NX_O95935 T-box transcription factor TBX18 607 64753 8.98 0 Nucleus Congenital anomalies of kidney and urinary tract 2 Acts as transcriptional repressor involved in developmental processes of a variety of tissues and organs, including the heart and coronary vessels, the ureter and the vertebral column. Required for embryonic development of the sino atrial node (SAN) head area. NA NA NA PE1 6 +NX_O95936 Eomesodermin homolog 686 72732 6.94 0 Cytoplasmic vesicle;Nucleus NA Functions as a transcriptional activator playing a crucial role during development. Functions in trophoblast differentiation and later in gastrulation, regulating both mesoderm delamination and endoderm specification. Plays a role in brain development being required for the specification and the proliferation of the intermediate progenitor cells and their progeny in the cerebral cortex. Also involved in the differentiation of CD8+ T-cells during immune response regulating the expression of lytic effector genes. NA NA NA PE1 3 +NX_O95944 Natural cytotoxicity triggering receptor 2 276 30677 8.15 1 Cell membrane NA Cytotoxicity-activating receptor that may contribute to the increased efficiency of activated natural killer (NK) cells to mediate tumor cell lysis. NA Belongs to the natural cytotoxicity receptor (NCR) family. Natural killer cell mediated cytotoxicity;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;DAP12 interactions PE1 6 +NX_O95947 T-box transcription factor TBX6 436 47045 8.16 0 Nucleoplasm;Nucleus Spondylocostal dysostosis 5 T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity). NA NA NA PE1 16 +NX_O95948 One cut domain family member 2 504 54303 9.65 0 Nucleoplasm;Nucleus;Cytoskeleton NA Transcriptional activator. Activates the transcription of a number of liver genes such as HNF3B. NA Belongs to the CUT homeobox family. NA PE1 18 +NX_O95954 Formimidoyltransferase-cyclodeaminase 541 58927 5.58 0 Golgi apparatus;Cytosol;Cell membrane;Centriole Glutamate formiminotransferase deficiency Binds and promotes bundling of vimentin filaments originating from the Golgi.;Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool. NA In the N-terminal section; belongs to the formiminotransferase family.;In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family. Amino-acid degradation; L-histidine degradation into L-glutamate; L-glutamate from N-formimidoyl-L-glutamate (transferase route): step 1/1.;One-carbon metabolism; tetrahydrofolate interconversion.;Histidine metabolism;One carbon pool by folate;Metabolic pathways;Histidine catabolism PE1 21 +NX_O95965 Integrin beta-like protein 1 494 53921 5.39 0 Secreted NA NA NA NA RUNX2 regulates genes involved in cell migration PE1 13 +NX_O95967 EGF-containing fibulin-like extracellular matrix protein 2 443 49405 4.79 0 Secreted Cutis laxa, autosomal recessive, 1B NA NA Belongs to the fibulin family. Molecules associated with elastic fibres PE1 11 +NX_O95968 Secretoglobin family 1D member 1 90 9898 9.41 0 Secreted NA May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones. NA Belongs to the secretoglobin family. Lipophilin subfamily. NA PE1 11 +NX_O95969 Secretoglobin family 1D member 2 90 9925 8.58 0 Secreted NA May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones. NA Belongs to the secretoglobin family. Lipophilin subfamily. NA PE1 11 +NX_O95970 Leucine-rich glioma-inactivated protein 1 557 63818 8.5 0 Secreted;Synapse Epilepsy, familial temporal lobe, 1 Regulates voltage-gated potassium channels assembled from KCNA1, KCNA4 and KCNAB1. It slows down channel inactivation by precluding channel closure mediated by the KCNAB1 subunit. Ligand for ADAM22 that positively regulates synaptic transmission mediated by AMPA-type glutamate receptors (By similarity). Plays a role in suppressing the production of MMP1/3 through the phosphatidylinositol 3-kinase/ERK pathway. May play a role in the control of neuroblastoma cell survival. Glycosylated. NA LGI-ADAM interactions PE1 10 +NX_O95971 CD160 antigen 181 19810 6.94 0 Secreted;Cell membrane NA CD160 antigen, soluble form: The soluble GPI-cleaved form, usually released by activated lymphocytes, might play an immune regulatory role by limiting lymphocyte effector functions.;CD160 antigen: Receptor on immune cells capable to deliver stimulatory or inhibitory signals that regulate cell activation and differentiation. Exists as a GPI-anchored and as a transmembrane form, each likely initiating distinct signaling pathways via phosphoinositol 3-kinase in activated NK cells and via LCK and CD247/CD3 zeta chain in activated T cells (PubMed:19109136, PubMed:11978774, PubMed:17307798). Receptor for both classical and non-classical MHC class I molecules (PubMed:9973372, PubMed:12486241). In the context of acute viral infection, recognizes HLA-C and triggers NK cell cytotoxic activity, likely playing a role in anti-viral innate immune response (PubMed:12486241). On CD8+ T cells, binds HLA-A2-B2M in complex with a viral peptide and provides a costimulatory signal to activated/memory T cells (PubMed:9973372). Upon persistent antigen stimulation, such as occurs during chronic viral infection, may progressively inhibit TCR signaling in memory CD8+ T cells, contributing to T cell exhaustion (PubMed:25255144). On endothelial cells, recognizes HLA-G and controls angiogenesis in immune privileged sites (PubMed:16809620). Receptor or ligand for TNF superfamily member TNFRSF14, participating in bidirectional cell-cell contact signaling between antigen presenting cells and lymphocytes. Upon ligation of TNFRSF14, provides stimulatory signal to NK cells enhancing IFNG production and anti-tumor immune response (By similarity). On activated CD4+ T cells, interacts with TNFRSF14 and downregulates CD28 costimulatory signaling, restricting memory and alloantigen-specific immune response (PubMed:18193050). In the context of bacterial infection, acts as a ligand for TNFRSF14 on epithelial cells, triggering the production of antimicrobial proteins and proinflammatory cytokines (By similarity). NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 1 +NX_O95972 Bone morphogenetic protein 15 392 45055 9.28 0 Secreted Ovarian dysgenesis 2;Premature ovarian failure 4 May be involved in follicular development. Oocyte-specific growth/differentiation factor that stimulates folliculogenesis and granulosa cell (GC) growth. NA Belongs to the TGF-beta family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 X +NX_O95976 Immunoglobulin superfamily member 6 241 27013 8.93 1 Membrane NA NA NA NA NA PE1 16 +NX_O95977 Sphingosine 1-phosphate receptor 4 384 41623 10.04 7 Mitochondrion;Cell membrane NA Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. May be involved in cell migration processes that are specific for lymphocytes. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Lysosphingolipid and LPA receptors PE1 19 +NX_O95980 Reversion-inducing cysteine-rich protein with Kazal motifs 971 106457 6.35 0 Cell membrane NA Functions together with ADGRA2 to enable brain endothelial cells to selectively respond to Wnt7 signals (WNT7A or WNT7B) (PubMed:28289266, PubMed:30026314). Plays a key role in Wnt7-specific responses: required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation (By similarity). Acts as a Wnt7-specific coactivator of canonical Wnt signaling by decoding Wnt ligands: acts by interacting specifically with the disordered linker region of Wnt7, thereby conferring ligand selectivity for Wnt7 (PubMed:30026314). ADGRA2 is then required to deliver RECK-bound Wnt7 to frizzled by assembling a higher-order RECK-ADGRA2-Fzd-LRP5-LRP6 complex (PubMed:30026314). Also acts as a serine protease inhibitor: negatively regulates matrix metalloproteinase-9 (MMP9) by suppressing MMP9 secretion and by direct inhibition of its enzymatic activity (PubMed:9789069, PubMed:18194466). Also inhibits metalloproteinase activity of MMP2 and MMP14 (MT1-MMP) (PubMed:9789069). N-glycosylated. Belongs to the RECK family. Post-translational modification: synthesis of GPI-anchored proteins PE1 9 +NX_O95983 Methyl-CpG-binding domain protein 3 291 32844 5.22 0 Nucleoplasm;Nucleus;Chromosome NA Acts as transcriptional repressor and plays a role in gene silencing. Does not bind to DNA by itself (PubMed:12124384). Binds to DNA with a preference for sites containing methylated CpG dinucleotides (in vitro). Binds to a lesser degree DNA containing unmethylated CpG dinucleotides (PubMed:24307175). Recruits histone deacetylases and DNA methyltransferases. NA NA RNA Polymerase I Transcription Initiation;HDACs deacetylate histones;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Regulation of TP53 Activity through Acetylation;Regulation of PTEN gene transcription PE1 19 +NX_O95985 DNA topoisomerase 3-beta-1 862 96662 8.47 0 Nucleoplasm NA Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand. The free DNA strand than undergoes passage around the unbroken strand thus removing DNA supercoils. Finally, in the religation step, the DNA 3'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity). Possesses negatively supercoiled DNA relaxing activity. NA Belongs to the type IA topoisomerase family. Homologous recombination;Fanconi anemia pathway PE1 22 +NX_O95988 T-cell leukemia/lymphoma protein 1B 128 14846 6.84 0 Cytosol NA Enhances the phosphorylation and activation of AKT1 and AKT2. NA Belongs to the TCL1 family. NA PE1 14 +NX_O95989 Diphosphoinositol polyphosphate phosphohydrolase 1 172 19471 5.99 0 Cytoplasm NA Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate) and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction. InsP6 (inositol hexakisphosphate) is not a substrate. Acts as a negative regulator of the ERK1/2 pathway. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able to hydrolyze 5-phosphoribose 1-diphosphate. NA Belongs to the Nudix hydrolase family. DIPP subfamily. Synthesis of pyrophosphates in the cytosol PE1 6 +NX_O95990 Actin-associated protein FAM107A 144 17455 9.71 0 Nucleus speckle;Focal adhesion;Stress fiber;Synapse;Ruffle membrane;Nucleus NA Stress-inducible actin-binding protein that plays a role in synaptic and cognitive functions by modulating actin filamentous (F-actin) dynamics. Mediates polymerization of globular actin to F-actin. Also binds to, stabilizes and bundles F-actin. Involved in synaptic function by regulating neurite outgrowth in an actin-dependent manner and for the acquisition of hippocampus-dependent cognitive function, such as learning and long-term memory (By similarity). Plays a role in the actin and microtubule cytoskeleton organization; negatively regulates focal adhesion (FA) assembly promoting malignant glial cell migration in an actin-, microtubule- and MAP1A-dependent manner (PubMed:20543869). Also involved in neuroblastoma G1/S phase cell cycle progression and cell proliferation inhibition by stimulating ubiquitination of NF-kappa-B subunit RELA and NF-kappa-B degradation in a COMMD1- and actin-dependent manner (PubMed:10564580, PubMed:28604741). May play a role in tumor development (PubMed:10564580). NA Belongs to the FAM107 family. NA PE1 3 +NX_O95992 Cholesterol 25-hydroxylase 272 31745 6.77 3 Endoplasmic reticulum membrane NA Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes (PubMed:9852097). Plays a key role in cell positioning and movement in lymphoid tissues: 25-hydroxycholesterol is an intermediate in biosynthesis of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC), an oxysterol that acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells. May play an important role in regulating lipid metabolism by synthesizing a corepressor that blocks sterol regulatory element binding protein (SREBP) processing. In testis, production of 25-hydroxycholesterol by macrophages may play a role in Leydig cell differentiation. N-glycosylated. Belongs to the sterol desaturase family. Primary bile acid biosynthesis;Synthesis of bile acids and bile salts PE1 10 +NX_O95994 Anterior gradient protein 2 homolog 175 19979 9.03 0 Endoplasmic reticulum;Secreted NA Required for MUC2 post-transcriptional synthesis and secretion. May play a role in the production of mucus by intestinal cells (By similarity). Proto-oncogene that may play a role in cell migration, cell differentiation and cell growth. Promotes cell adhesion (PubMed:23274113). NA Belongs to the AGR family. NA PE1 7 +NX_O95995 Dynein regulatory complex subunit 4 478 56356 7.72 0 Golgi apparatus;Flagellum axoneme;Cytoplasm;Cell membrane;Cilium;Cilium basal body;Cilium axoneme;Flagellum;Cytosol;Cytoskeleton Ciliary dyskinesia, primary, 33 Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Plays an important role in the assembly of the N-DRC linker (By similarity). Plays dual roles at both the primary (or non-motile) cilia to regulate hedgehog signaling and in motile cilia to coordinate cilia movement. Required for proper motile cilia functioning (PubMed:26387594, PubMed:27120127, PubMed:27472056). Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh) signaling pathway by facilitating the trafficking of SMO into the cilium and the stimulation of SMO activity in a GRK2-dependent manner (By similarity). NA Belongs to the DRC4 family. Activation of SMO PE1 16 +NX_O95996 Adenomatous polyposis coli protein 2 2303 243949 9.08 0 Golgi apparatus;Cytoplasm;Cytosol;Perinuclear region;Midbody;Cytoskeleton Sotos syndrome 3 Stabilizes microtubules and may regulate actin fiber dynamics through the activation of Rho family GTPases (PubMed:25753423). May also function in Wnt signaling by promoting the rapid degradation of CTNNB1 (PubMed:10021369, PubMed:11691822, PubMed:9823329). NA Belongs to the adenomatous polyposis coli (APC) family. Wnt signaling pathway;Regulation of actin cytoskeleton;HTLV-I infection;Pathways in cancer;Colorectal cancer;Endometrial cancer;Basal cell carcinoma PE1 19 +NX_O95997 Securin 202 22024 6.18 0 Cytoplasm;Nucleus NA Regulatory protein, which plays a central role in chromosome stability, in the p53/TP53 pathway, and DNA repair. Probably acts by blocking the action of key proteins. During the mitosis, it blocks Separase/ESPL1 function, preventing the proteolysis of the cohesin complex and the subsequent segregation of the chromosomes. At the onset of anaphase, it is ubiquitinated, conducting to its destruction and to the liberation of ESPL1. Its function is however not limited to a blocking activity, since it is required to activate ESPL1. Negatively regulates the transcriptional activity and related apoptosis activity of TP53. The negative regulation of TP53 may explain the strong transforming capability of the protein when it is overexpressed. May also play a role in DNA repair via its interaction with Ku, possibly by connecting DNA damage-response pathways with sister chromatid separation. Phosphorylated at Ser-165 by CDK1 during mitosis.;Ubiquitinated through 'Lys-11' linkage of ubiquitin moieties by the anaphase promoting complex (APC) at the onset of anaphase, conducting to its degradation. 'Lys-11'-linked ubiquitination is mediated by the E2 ligase UBE2C/UBCH10.;Phosphorylated in vitro by ds-DNA kinase. Belongs to the securin family. Cell cycle;Oocyte meiosis;HTLV-I infection;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Separation of Sister Chromatids PE1 5 +NX_O95998 Interleukin-18-binding protein 194 21099 6.99 0 Endoplasmic reticulum;Secreted NA Binds to IL-18 and inhibits its activity. Functions as an inhibitor of the early TH1 cytokine response. N- and O-glycosylated. O-glycosylated with core 1-like and core 2-like glycans. O-glycan heterogeneity at Ser-53: HexHexNAc (major) and Hex2HexNAc2 (minor). N-glycan heterogeneity at Asn-103: Hex5HexNAc4 (minor), dHex1Hex5HexNAc4 (major) and Hex6HexNAc5 (minor); N-glycan at Asn-147: dHex1Hex5HexNAc4. NA Interleukin-18 signaling;Interleukin-37 signaling PE1 11 +NX_O95999 B-cell lymphoma/leukemia 10 233 26252 5.57 0 Nucleoplasm;Membrane raft;Perinuclear region Immunodeficiency 37;Lymphoma, mucosa-associated lymphoid type Involved in adaptive immune response (PubMed:25365219). Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK. May be an adapter protein between upstream TNFR1-TRADD-RIP complex and the downstream NIK-IKK-IKAP complex. Is a substrate for MALT1 (PubMed:18264101). Phosphorylated. Phosphorylation results in dissociation from TRAF2 and binding to BIRC2/c-IAP2. Phosphorylated by IKBKB/IKKB.;BCL10 is phosphorylated by PRKCZ (Phosphoserine,Phosphothreonine:PTM-0253,PTM-0254);BCL10 is phosphorylated by IKBKB (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA T cell receptor signaling pathway;B cell receptor signaling pathway;Tuberculosis;Activation of NF-kappaB in B cells;FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;Downstream TCR signaling;E3 ubiquitin ligases ubiquitinate target proteins PE1 1 +NX_O96000 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 172 20777 8.72 0 Mitochondrion inner membrane NA Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFB10 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 16 +NX_O96001 Protein phosphatase 1 regulatory subunit 17 155 17866 8.48 0 NA NA Inhibits phosphatase activities of protein phosphatase 1 (PP1) and protein phosphatase 2A (PP2A) complexes. Substrate for cGMP-dependent protein kinase.;Substrate for cGMP-dependent protein kinase. Phosphorylated by PRKG1 isoform alpha. Phosphorylation of Thr-68 and Thr-119 is required for its phosphatase activity (By similarity). NA Long-term depression PE1 7 +NX_O96002 Putative transmembrane protein CXorf1 111 13452 9.61 2 Membrane NA NA NA NA NA PE5 X +NX_O96004 Heart- and neural crest derivatives-expressed protein 1 215 23627 9.69 0 Nucleoplasm;Nucleus membrane;Nucleolus NA Transcription factor that plays an essential role in both trophoblast-giant cells differentiation and in cardiac morphogenesis. In the adult, could be required for ongoing expression of cardiac-specific genes. Binds the DNA sequence 5'-NRTCTG-3' (non-canonical E-box) (By similarity). Phosphorylation by PLK4 disrupts the interaction with MDFIC and leads to translocation into the nucleoplasm, allowing dimerization and transcription factor activity. NA NA PE1 5 +NX_O96005 Cleft lip and palate transmembrane protein 1 669 76097 5.88 5 Golgi apparatus;Cell membrane;Centriolar satellite;Nucleus membrane;Membrane;Endoplasmic reticulum NA May play a role in T-cell development. NA Belongs to the CLPTM1 family. NA PE1 19 +NX_O96006 Zinc finger BED domain-containing protein 1 694 78156 5.79 0 Nucleoplasm;Nucleus;Centrosome;Nucleus membrane NA Binds to 5'-TGTCG[CT]GA[CT]A-3' DNA elements found in the promoter regions of a number of genes related to cell proliferation. Binds to the histone H1 promoter and stimulates transcription. Was first identified as gene weakly similar to Ac transposable elements, but does not code for any transposase activity. NA NA SUMOylation of chromatin organization proteins PE1 X +NX_O96007 Molybdopterin synthase catalytic subunit 188 20944 5.35 0 Nucleoplasm;Cytosol Molybdenum cofactor deficiency, complementation group B Catalytic subunit of the molybdopterin synthase complex, a complex that catalyzes the conversion of precursor Z into molybdopterin. Acts by mediating the incorporation of 2 sulfur atoms from thiocarboxylated MOCS2A into precursor Z to generate a dithiolene group. NA Belongs to the MoaE family. MOCS2B subfamily. Cofactor biosynthesis; molybdopterin biosynthesis.;Folate biosynthesis;Metabolic pathways;Sulfur relay system;Molybdenum cofactor biosynthesis PE1 5 +NX_O96008 Mitochondrial import receptor subunit TOM40 homolog 361 37893 6.79 0 Mitochondrion outer membrane;Cytosol;Mitochondrion NA Channel-forming protein essential for import of protein precursors into mitochondria. NA Belongs to the Tom40 family. Amyotrophic lateral sclerosis (ALS);Mitochondrial protein import;Pink/Parkin Mediated Mitophagy PE1 19 +NX_O96009 Napsin-A 420 45387 6.15 0 Secreted NA May be involved in processing of pneumocyte surfactant precursors. NA Belongs to the peptidase A1 family. Lysosome;Surfactant metabolism PE1 19 +NX_O96011 Peroxisomal membrane protein 11B 259 28431 9.91 1 Cytoplasmic vesicle;Peroxisome membrane Peroxisome biogenesis disorder 14B Involved in peroxisomal proliferation (PubMed:9792670). May regulate peroxisome division by recruiting the dynamin-related GTPase DNM1L to the peroxisomal membrane (PubMed:12618434). Promotes membrane protrusion and elongation on the peroxisomal surface (PubMed:20826455). NA Belongs to the peroxin-11 family. Peroxisome;Class I peroxisomal membrane protein import PE1 1 +NX_O96013 Serine/threonine-protein kinase PAK 4 591 64072 9.76 0 Cytoplasm;Cell junction;Cell membrane NA Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, growth, proliferation or cell survival. Activation by various effectors including growth factor receptors or active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates and inactivates the protein phosphatase SSH1, leading to increased inhibitory phosphorylation of the actin binding/depolymerizing factor cofilin. Decreased cofilin activity may lead to stabilization of actin filaments. Phosphorylates LIMK1, a kinase that also inhibits the activity of cofilin. Phosphorylates integrin beta5/ITGB5 and thus regulates cell motility. Phosphorylates ARHGEF2 and activates the downstream target RHOA that plays a role in the regulation of assembly of focal adhesions and actin stress fibers. Stimulates cell survival by phosphorylating the BCL2 antagonist of cell death BAD. Alternatively, inhibits apoptosis by preventing caspase-8 binding to death domain receptors in a kinase independent manner. Plays a role in cell-cycle progression by controlling levels of the cell-cycle regulatory protein CDKN1A and by phosphorylating RAN. Autophosphorylated on serine residues when activated by CDC42/p21 (Ref.31). Phosphorylated on tyrosine residues upon stimulation of FGFR2 (By similarity).;Polyubiquitinated, leading to its proteasomal degradation.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. ErbB signaling pathway;Axon guidance;Focal adhesion;T cell receptor signaling pathway;Regulation of actin cytoskeleton;Renal cell carcinoma;Activation of RAC1 PE1 19 +NX_O96014 Protein Wnt-11 354 39179 9.05 0 Cytosol;Extracellular matrix;Centrosome NA Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters. Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Belongs to the Wnt family. WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors);PCP/CE pathway;Ca2+ pathway PE1 11 +NX_O96015 Dynein light chain 4, axonemal 105 12009 5.36 0 Nucleolus;Nucleoplasm;Centrosome;Cilium axoneme;Cytosol Mirror movements 3 Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity (By similarity). NA Belongs to the dynein light chain family. Huntington's disease;Retrograde neurotrophin signalling PE1 22 +NX_O96017 Serine/threonine-protein kinase Chk2 543 60915 5.65 0 Golgi apparatus;Nucleoplasm;PML body;Nucleus Prostate cancer;Breast cancer;Osteogenic sarcoma;Li-Fraumeni syndrome 2 Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also negatively regulate cell cycle progression during unperturbed cell cycles. Following activation, phosphorylates numerous effectors preferentially at the consensus sequence [L-X-R-X-X-S/T]. Regulates cell cycle checkpoint arrest through phosphorylation of CDC25A, CDC25B and CDC25C, inhibiting their activity. Inhibition of CDC25 phosphatase activity leads to increased inhibitory tyrosine phosphorylation of CDK-cyclin complexes and blocks cell cycle progression. May also phosphorylate NEK6 which is involved in G2/M cell cycle arrest. Regulates DNA repair through phosphorylation of BRCA2, enhancing the association of RAD51 with chromatin which promotes DNA repair by homologous recombination. Also stimulates the transcription of genes involved in DNA repair (including BRCA2) through the phosphorylation and activation of the transcription factor FOXM1. Regulates apoptosis through the phosphorylation of p53/TP53, MDM4 and PML. Phosphorylation of p53/TP53 at 'Ser-20' by CHEK2 may alleviate inhibition by MDM2, leading to accumulation of active p53/TP53. Phosphorylation of MDM4 may also reduce degradation of p53/TP53. Also controls the transcription of pro-apoptotic genes through phosphorylation of the transcription factor E2F1. Tumor suppressor, it may also have a DNA damage-independent function in mitotic spindle assembly by phosphorylating BRCA1. Its absence may be a cause of the chromosomal instability observed in some cancer cells. Promotes the CCAR2-SIRT1 association and is required for CCAR2-mediated SIRT1 inhibition (PubMed:25361978). Phosphorylated. Phosphorylated at Ser-73 by PLK3 in response to DNA damage, promoting phosphorylation at Thr-68 by ATM and the G2/M transition checkpoint. Phosphorylation at Thr-68 induces homodimerization. Autophosphorylates at Thr-383 and Thr-387 in the T-loop/activation segment upon dimerization to become fully active and phosphorylate its substrates like for instance CDC25C. DNA damage-induced autophosphorylation at Ser-379 induces CUL1-mediated ubiquitination and regulates the pro-apoptotic function. Phosphorylation at Ser-456 also regulates ubiquitination. Phosphorylated by PLK4.;Ubiquitinated. CUL1-mediated ubiquitination regulates the pro-apoptotic function. Ubiquitination may also regulate protein stability. Ubiquitinated by RNF8 via 'Lys-48'-linked ubiquitination.;CHEK2 is phosphorylated by PLK4 Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CHK2 subfamily. Cell cycle;p53 signaling pathway;HTLV-I infection;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;G2/M DNA damage checkpoint;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;Stabilization of p53;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Regulation of TP53 Activity through Phosphorylation;Regulation of TP53 Degradation;Regulation of TP53 Activity through Methylation PE1 22 +NX_O96018 Amyloid-beta A4 precursor protein-binding family A member 3 575 61454 4.83 0 Cytoplasmic vesicle;Perinuclear region NA May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta. May enhance the activity of HIF1A in macrophages by inhibiting the activity of HIF1AN. NA NA Neurexins and neuroligins PE1 19 +NX_O96019 Actin-like protein 6A 429 47461 5.39 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Putative core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. NA Belongs to the actin family. RMTs methylate histone arginines;HATs acetylate histones;DNA Damage Recognition in GG-NER;UCH proteinases;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 3 +NX_O96020 G1/S-specific cyclin-E2 404 46757 7.95 0 Nucleus NA Essential for the control of the cell cycle at the late G1 and early S phase. Phosphorylation by CDK2 triggers its release from CDK2 and degradation via the ubiquitin proteasome pathway. Belongs to the cyclin family. Cyclin E subfamily. Cell cycle;Oocyte meiosis;p53 signaling pathway;Measles;Pathways in cancer;Prostate cancer;Small cell lung cancer;CDK-mediated phosphorylation and removal of Cdc6;DNA Damage/Telomere Stress Induced Senescence;SCF(Skp2)-mediated degradation of p27/p21;G0 and Early G1;Association of TriC/CCT with target proteins during biosynthesis;Cyclin E associated events during G1/S transition;Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes;p53-Dependent G1 DNA Damage Response;TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest PE1 8 +NX_O96024 Beta-1,3-galactosyltransferase 4 378 41537 8.63 1 Golgi apparatus membrane NA Involved in GM1/GD1B/GA1 ganglioside biosynthesis. NA Belongs to the glycosyltransferase 31 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - ganglio series;Metabolic pathways;Lewis blood group biosynthesis PE1 6 +NX_O96028 Histone-lysine N-methyltransferase NSD2 1365 152258 9 0 Nucleoplasm;Cytoplasm;Nucleus;Chromosome NA Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity.;May act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily. Lysine degradation;PKMTs methylate histone lysines;G2/M DNA damage checkpoint;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ) PE1 4 +NX_O96033 Molybdopterin synthase sulfur carrier subunit 88 9755 4.67 0 Cytosol Molybdenum cofactor deficiency, complementation group B Acts as a sulfur carrier required for molybdopterin biosynthesis. Component of the molybdopterin synthase complex that catalyzes the conversion of precursor Z into molybdopterin by mediating the incorporation of 2 sulfur atoms into precursor Z to generate a dithiolene group. In the complex, serves as sulfur donor by being thiocarboxylated (-COSH) at its C-terminus by MOCS3. After interaction with MOCS2B, the sulfur is then transferred to precursor Z to form molybdopterin. C-terminal thiocarboxylation occurs in 2 steps, it is first acyl-adenylated (-COAMP) via the hesA/moeB/thiF part of MOCS3, then thiocarboxylated (-COSH) via the rhodanese domain of MOCS3. Belongs to the MoaD family. MOCS2A subfamily. Cofactor biosynthesis; molybdopterin biosynthesis.;Folate biosynthesis;Metabolic pathways;Sulfur relay system;Molybdenum cofactor biosynthesis PE1 5 +NX_O97980 Minor histocompatibility protein HB-1 41 4965 4.95 0 NA NA Precursor of the histocomplatibility antigen HB-1. More generally, minor histocomplatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and its expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocomplatibility antigen in HLA-matched sibling marrow transplants. HB-1 is presented on the cell surface by MHC class I HLA-B44. This complex specifically elicits donor-cytotoxic T lymphocyte (CTL) reactivity in B-cell acute lymphoblastic leukemia (B-ALL) after treatment by HLA-identical allogenic bone marrow transplantation (BMT). It induces cell recognition and lysis by CTL. However, HB-1 restricted expression in B-ALL cells and not in normal tissues may allow a specific CTL reactivity against B-ALL without the risk of evoking graft-versus-host disease. NA NA NA PE1 5 +NX_P00156 Cytochrome b 380 42718 7.83 8 Mitochondrion inner membrane;Mitochondrion Cardiomyopathy, infantile histiocytoid;Leber hereditary optic neuropathy Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis. NA Belongs to the cytochrome b family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport PE1 MT +NX_P00167 Cytochrome b5 134 15330 4.88 1 Microsome membrane;Cytoplasm;Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cytosol Methemoglobinemia and ambiguous genitalia Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases. NA Belongs to the cytochrome b5 family. Vitamin C (ascorbate) metabolism;Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 18 +NX_P00325 All-trans-retinol dehydrogenase [NAD(+)] ADH1B 375 39855 8.63 0 Cytoplasm NA Catalyzes the NAD-dependent oxidation of all-trans-retinol and its derivatives such as all-trans-4-hydroxyretinol and may participate to retinoid metabolism (PubMed:15369820, PubMed:16787387). In vitro can also catalyzes the NADH-dependent reduction of all-trans-retinal and its derivatives such as all-trans-4-oxoretinal (PubMed:15369820, PubMed:16787387). Catalyzes in the oxidative direction with higher efficiency (PubMed:16787387). Has the same affinity for all-trans-4-hydroxyretinol and all-trans-4-oxoretinal (PubMed:15369820). NA Belongs to the zinc-containing alcohol dehydrogenase family. Glycolysis / Gluconeogenesis;Fatty acid metabolism;Tyrosine metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;Ethanol oxidation PE1 4 +NX_P00326 Alcohol dehydrogenase 1C 375 39868 8.63 0 Cytoplasm NA NA NA Belongs to the zinc-containing alcohol dehydrogenase family. Glycolysis / Gluconeogenesis;Fatty acid metabolism;Tyrosine metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;RA biosynthesis pathway;Ethanol oxidation PE1 4 +NX_P00338 L-lactate dehydrogenase A chain 332 36689 8.44 0 Cytoplasm;Cytosol;Cytoplasmic vesicle Glycogen storage disease 11 NA ISGylated. Belongs to the LDH/MDH superfamily. LDH family. Fermentation; pyruvate fermentation to lactate; (S)-lactate from pyruvate: step 1/1.;Glycolysis / Gluconeogenesis;Cysteine and methionine metabolism;Pyruvate metabolism;Propanoate metabolism;Metabolic pathways;Pyruvate metabolism PE1 11 +NX_P00352 Retinal dehydrogenase 1 501 54862 6.3 0 Cytosol NA Can convert/oxidize retinaldehyde to retinoic acid. Binds free retinal and cellular retinol-binding protein-bound retinal (By similarity). May have a broader specificity and oxidize other aldehydes in vivo (PubMed:19296407, PubMed:26373694, PubMed:25450233). The N-terminus is blocked most probably by acetylation. Belongs to the aldehyde dehydrogenase family. Cofactor metabolism; retinol metabolism.;Retinol metabolism;Metabolic pathways;RA biosynthesis pathway;Fructose catabolism;Ethanol oxidation PE1 9 +NX_P00367 Glutamate dehydrogenase 1, mitochondrial 558 61398 7.66 0 Mitochondrion matrix Familial hyperinsulinemic hypoglycemia 6 Mitochondrial glutamate dehydrogenase that converts L-glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle. May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity). ADP-ribosylated by SIRT4, leading to inactivate glutamate dehydrogenase activity (By similarity). Stoichiometry shows that ADP-ribosylation occurs in one subunit per catalytically active homohexamer. Belongs to the Glu/Leu/Phe/Val dehydrogenases family. Alanine, aspartate and glutamate metabolism;Arginine and proline metabolism;D-Glutamine and D-glutamate metabolism;Nitrogen metabolism;Metabolic pathways;Proximal tubule bicarbonate reclamation;Transcriptional activation of mitochondrial biogenesis;Glutamate and glutamine metabolism PE1 10 +NX_P00374 Dihydrofolate reductase 187 21453 6.85 0 Cytoplasm;Mitochondrion Megaloblastic anemia due to dihydrofolate reductase deficiency Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Catalyzes an essential reaction for de novo glycine and purine synthesis, and for DNA precursor synthesis. Binds its own mRNA and that of DHFR2. NA Belongs to the dihydrofolate reductase family. Cofactor biosynthesis; tetrahydrofolate biosynthesis; 5,6,7,8-tetrahydrofolate from 7,8-dihydrofolate: step 1/1.;One carbon pool by folate;Folate biosynthesis;Metabolic pathways;G1/S-Specific Transcription;Metabolism of folate and pterines;Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation PE1 5 +NX_P00387 NADH-cytochrome b5 reductase 3 301 34235 7.18 0 Mitochondrion outer membrane;Cytoplasm;Endoplasmic reticulum membrane;Endoplasmic reticulum Methemoglobinemia CYB5R3-related Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction. NA Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family. Amino sugar and nucleotide sugar metabolism;Vitamin C (ascorbate) metabolism;Phase I - Functionalization of compounds;Neutrophil degranulation PE1 22 +NX_P00390 Glutathione reductase, mitochondrial 522 56257 8.74 0 Cytoplasm;Cytosol;Mitochondrion;Cell membrane NA Maintains high levels of reduced glutathione in the cytosol. NA Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. Glutathione metabolism;Detoxification of Reactive Oxygen Species;TP53 Regulates Metabolic Genes;Interconversion of nucleotide di- and triphosphates;Metabolism of ingested H2SeO4 and H2SeO3 into H2Se PE1 8 +NX_P00395 Cytochrome c oxidase subunit 1 513 57041 6.19 12 Mitochondrion inner membrane;Mitochondrion Leber hereditary optic neuropathy;Deafness, sensorineural, mitochondrial;Recurrent myoglobinuria mitochondrial;Colorectal cancer;Mitochondrial complex IV deficiency Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1-3 form the functional core of the enzyme complex. CO I is the catalytic subunit of the enzyme. Electrons originating in cytochrome c are transferred via the copper A center of subunit 2 and heme A of subunit 1 to the bimetallic center formed by heme A3 and copper B. NA Belongs to the heme-copper respiratory oxidase family. Energy metabolism; oxidative phosphorylation.;Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 MT +NX_P00403 Cytochrome c oxidase subunit 2 227 25565 4.67 2 Mitochondrion inner membrane Mitochondrial complex IV deficiency Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1-3 form the functional core of the enzyme complex. Subunit 2 transfers the electrons from cytochrome c via its binuclear copper A center to the bimetallic center of the catalytic subunit 1. NA Belongs to the cytochrome c oxidase subunit 2 family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 MT +NX_P00414 Cytochrome c oxidase subunit 3 261 29951 6.78 7 Mitochondrion inner membrane Recurrent myoglobinuria mitochondrial;Leber hereditary optic neuropathy;Mitochondrial complex IV deficiency Subunits I, II and III form the functional core of the enzyme complex. NA Belongs to the cytochrome c oxidase subunit 3 family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 MT +NX_P00439 Phenylalanine-4-hydroxylase 452 51862 6.15 0 Endoplasmic reticulum;Cytoplasmic vesicle Non-phenylketonuria hyperphenylalaninemia;Phenylketonuria;Hyperphenylalaninemia Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine. Phosphorylation at Ser-16 increases basal activity and facilitates activation by the substrate phenylalanine. Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 1/6.;Phenylalanine metabolism;Phenylalanine, tyrosine and tryptophan biosynthesis;Metabolic pathways;Phenylketonuria;Phenylalanine metabolism PE1 12 +NX_P00441 Superoxide dismutase [Cu-Zn] 154 15936 5.7 0 Cytoplasm;Mitochondrion;Cell membrane;Nucleoplasm;Cytosol;Nucleus Amyotrophic lateral sclerosis 1 Destroys radicals which are normally produced within the cells and which are toxic to biological systems. The ditryptophan cross-link at Trp-33 is responsible for the non-disulfide-linked homodimerization. Such modification might only occur in extreme conditions and additional experimental evidence is required.;Succinylation, adjacent to copper catalytic site, probably inhibits activity. Desuccinylation by SIRT5 enhances activity.;Palmitoylation helps nuclear targeting and decreases catalytic activity.;Unlike wild-type protein, the pathogenic variants ALS1 Arg-38, Arg-47, Arg-86 and Ala-94 are polyubiquitinated by RNF19A leading to their proteasomal degradation. The pathogenic variants ALS1 Arg-86 and Ala-94 are ubiquitinated by MARCH5 leading to their proteasomal degradation. Belongs to the Cu-Zn superoxide dismutase family. Peroxisome;Amyotrophic lateral sclerosis (ALS);Huntington's disease;Prion diseases;Detoxification of Reactive Oxygen Species;Platelet degranulation;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 21 +NX_P00450 Ceruloplasmin 1065 122205 5.44 0 Secreted Aceruloplasminemia Ceruloplasmin is a blue, copper-binding (6-7 atoms per molecule) glycoprotein. It has ferroxidase activity oxidizing Fe(2+) to Fe(3+) without releasing radical oxygen species. It is involved in iron transport across the cell membrane. Provides Cu(2+) ions for the ascorbate-mediated deaminase degradation of the heparan sulfate chains of GPC1. May also play a role in fetal lung development or pulmonary antioxidant defense (By similarity). NA Belongs to the multicopper oxidase family. Porphyrin and chlorophyll metabolism;Iron uptake and transport;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Metal ion SLC transporters;Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages);Defective CP causes aceruloplasminemia (ACERULOP);Post-translational protein phosphorylation PE1 3 +NX_P00451 Coagulation factor VIII 2351 267009 6.95 0 Extracellular space Hemophilia A Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa. Sulfation on Tyr-1699 is essential for binding vWF. Belongs to the multicopper oxidase family. Complement and coagulation cascades;Common Pathway of Fibrin Clot Formation;Platelet degranulation;COPII-mediated vesicle transport;Intrinsic Pathway of Fibrin Clot Formation;Cargo concentration in the ER PE1 X +NX_P00480 Ornithine carbamoyltransferase, mitochondrial 354 39935 8.75 0 Mitochondrion matrix;Mitochondrion Ornithine carbamoyltransferase deficiency NA Acetylation at Lys-88 negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals. Belongs to the ATCase/OTCase family. Nitrogen metabolism; urea cycle; L-citrulline from L-ornithine and carbamoyl phosphate: step 1/1.;Arginine and proline metabolism;Metabolic pathways;Mitochondrial protein import;Urea cycle PE1 X +NX_P00488 Coagulation factor XIII A chain 732 83267 5.75 0 Cytoplasm;Secreted Factor XIII subunit A deficiency Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also cross-link alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. The activation peptide is released by thrombin. Belongs to the transglutaminase superfamily. Transglutaminase family. Complement and coagulation cascades;Common Pathway of Fibrin Clot Formation;Platelet degranulation;Interleukin-4 and Interleukin-13 signaling PE1 6 +NX_P00491 Purine nucleoside phosphorylase 289 32118 6.45 0 Cytoplasm;Cytosol;Cytoskeleton Purine nucleoside phosphorylase deficiency The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate. NA Belongs to the PNP/MTAP phosphorylase family. Purine metabolism; purine nucleoside salvage.;Purine metabolism;Pyrimidine metabolism;Nicotinate and nicotinamide metabolism;Metabolic pathways;Purine catabolism;Purine salvage;Neutrophil degranulation PE1 14 +NX_P00492 Hypoxanthine-guanine phosphoribosyltransferase 218 24579 6.21 0 Cytoplasm;Cytosol;Nucleus Gout HPRT-related;Lesch-Nyhan syndrome Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway. NA Belongs to the purine/pyrimidine phosphoribosyltransferase family. Purine metabolism; IMP biosynthesis via salvage pathway; IMP from hypoxanthine: step 1/1.;Purine metabolism;Drug metabolism - other enzymes;Metabolic pathways;Purine salvage PE1 X +NX_P00505 Aspartate aminotransferase, mitochondrial 430 47518 9.14 0 Mitochondrion matrix;Cell membrane NA Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Plays a key role in amino acid metabolism. Important for metabolite exchange between mitochondria and cytosol. Facilitates cellular uptake of long-chain free fatty acids. NA Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine, aspartate and glutamate metabolism;Cysteine and methionine metabolism;Arginine and proline metabolism;Tyrosine metabolism;Phenylalanine metabolism;Phenylalanine, tyrosine and tryptophan biosynthesis;Metabolic pathways;Fat digestion and absorption;Gluconeogenesis;Glyoxylate metabolism and glycine degradation;Degradation of cysteine and homocysteine;Glutamate and glutamine metabolism;Aspartate and asparagine metabolism PE1 16 +NX_P00519 Tyrosine-protein kinase ABL1 1130 122873 8.84 0 Mitochondrion;Nucleus membrane;Nucleoplasm;Nucleus;Cytoskeleton Leukemia, chronic myeloid;Congenital heart defects and skeletal malformations syndrome Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion, receptor endocytosis, autophagy, DNA damage response and apoptosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like WASF3 (involved in branch formation); ANXA1 (involved in membrane anchoring); DBN1, DBNL, CTTN, RAPH1 and ENAH (involved in signaling); or MAPT and PXN (microtubule-binding proteins). Phosphorylation of WASF3 is critical for the stimulation of lamellipodia formation and cell migration. Involved in the regulation of cell adhesion and motility through phosphorylation of key regulators of these processes such as BCAR1, CRK, CRKL, DOK1, EFS or NEDD9. Phosphorylates multiple receptor tyrosine kinases and more particularly promotes endocytosis of EGFR, facilitates the formation of neuromuscular synapses through MUSK, inhibits PDGFRB-mediated chemotaxis and modulates the endocytosis of activated B-cell receptor complexes. Other substrates which are involved in endocytosis regulation are the caveolin (CAV1) and RIN1. Moreover, ABL1 regulates the CBL family of ubiquitin ligases that drive receptor down-regulation and actin remodeling. Phosphorylation of CBL leads to increased EGFR stability. Involved in late-stage autophagy by regulating positively the trafficking and function of lysosomal components. ABL1 targets to mitochondria in response to oxidative stress and thereby mediates mitochondrial dysfunction and cell death. In response to oxidative stress, phosphorylates serine/threonine kinase PRKD2 at 'Tyr-717' (PubMed:28428613). ABL1 is also translocated in the nucleus where it has DNA-binding activity and is involved in DNA-damage response and apoptosis. Many substrates are known mediators of DNA repair: DDB1, DDB2, ERCC3, ERCC6, RAD9A, RAD51, RAD52 or WRN. Activates the proapoptotic pathway when the DNA damage is too severe to be repaired. Phosphorylates TP73, a primary regulator for this type of damage-induced apoptosis. Phosphorylates the caspase CASP9 on 'Tyr-153' and regulates its processing in the apoptotic response to DNA damage. Phosphorylates PSMA7 that leads to an inhibition of proteasomal activity and cell cycle transition blocks. ABL1 acts also as a regulator of multiple pathological signaling cascades during infection. Several known tyrosine-phosphorylated microbial proteins have been identified as ABL1 substrates. This is the case of A36R of Vaccinia virus, Tir (translocated intimin receptor) of pathogenic E.coli and possibly Citrobacter, CagA (cytotoxin-associated gene A) of H.pylori, or AnkA (ankyrin repeat-containing protein A) of A.phagocytophilum. Pathogens can highjack ABL1 kinase signaling to reorganize the host actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host cell exit. Finally, functions as its own regulator through autocatalytic activity as well as through phosphorylation of its inhibitor, ABI1. Regulates T-cell differentiation in a TBX21-dependent manner. Phosphorylates TBX21 on tyrosine residues leading to an enhancement of its transcriptional activator activity (By similarity). Polyubiquitinated. Polyubiquitination of ABL1 leads to degradation.;Acetylated at Lys-711 by EP300 which promotes the cytoplasmic translocation.;Phosphorylation at Tyr-70 by members of the SRC family of kinases disrupts SH3 domain-based autoinhibitory interactions and intermolecular associations, such as that with ABI1, and also enhances kinase activity. Phosphorylation at Tyr-226 and Tyr-393 correlate with increased activity. DNA damage-induced activation of ABL1 requires the function of ATM and Ser-446 phosphorylation (By similarity). Phosphorylation at Ser-569 has been attributed to a CDC2-associated kinase and is coupled to cell division (By similarity). Phosphorylation at Ser-618 and Ser-619 by PAK2 increases binding to CRK and reduces binding to ABI1. Phosphorylation on Thr-735 is required for binding 14-3-3 proteins for cytoplasmic translocation. Phosphorylated by PRKDC (By similarity).;ABL1 is phosphorylated by PDGFRB (Phosphotyrosine:PTM-0255);ABL1 is phosphorylated by CDK1;ABL1 is phosphorylated by PRKCD (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);ABL1 is phosphorylated by EPHB2 (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. ABL subfamily. ErbB signaling pathway;Cell cycle;Axon guidance;Neurotrophin signaling pathway;Pathogenic Escherichia coli infection;Shigellosis;Pathways in cancer;Chronic myeloid leukemia;Viral myocarditis;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;Factors involved in megakaryocyte development and platelet production;Cyclin D associated events in G1;Role of ABL in ROBO-SLIT signaling;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;HDR through Single Strand Annealing (SSA);RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX2 regulates osteoblast differentiation;Myogenesis PE1 9 +NX_P00533 Epidermal growth factor receptor 1210 134277 6.26 1 Endoplasmic reticulum membrane;Endosome membrane;Cell membrane;Cell junction;Secreted;Nucleus membrane;Endosome;Golgi apparatus membrane;Nucleus Inflammatory skin and bowel disease, neonatal, 2;Lung cancer May act as an antagonist of EGF action.;(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry. Mediates HCV entry by promoting the formation of the CD81-CLDN1 receptor complexes that are essential for HCV entry and by enhancing membrane fusion of cells expressing HCV envelope glycoproteins.;Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:2790960, PubMed:10805725, PubMed:27153536). Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF (PubMed:2790960, PubMed:7679104, PubMed:8144591, PubMed:9419975, PubMed:15611079, PubMed:12297049, PubMed:27153536, PubMed:20837704). Ligand binding triggers receptor homo- and/or heterodimerization and autophosphorylation on key cytoplasmic residues. The phosphorylated receptor recruits adapter proteins like GRB2 which in turn activates complex downstream signaling cascades. Activates at least 4 major downstream signaling cascades including the RAS-RAF-MEK-ERK, PI3 kinase-AKT, PLCgamma-PKC and STATs modules (PubMed:27153536). May also activate the NF-kappa-B signaling cascade (PubMed:11116146). Also directly phosphorylates other proteins like RGS16, activating its GTPase activity and probably coupling the EGF receptor signaling to the G protein-coupled receptor signaling (PubMed:11602604). Also phosphorylates MUC1 and increases its interaction with SRC and CTNNB1/beta-catenin (PubMed:11483589). Plays a role in enhancing learning and memory performance (By similarity). Monoubiquitinated and polyubiquitinated upon EGF stimulation; which does not affect tyrosine kinase activity or signaling capacity but may play a role in lysosomal targeting (PubMed:27153536). Polyubiquitin linkage is mainly through 'Lys-63', but linkage through 'Lys-48', 'Lys-11' and 'Lys-29' also occurs. Deubiquitination by OTUD7B prevents degradation. Ubiquitinated by RNF115 and RNF126 (By similarity).;Palmitoylated on Cys residues by ZDHHC20. Palmitoylation inhibits internalization after ligand binding, and increases the persistence of tyrosine-phosphorylated EGFR at the cell membrane. Palmitoylation increases the amplitude and duration of EGFR signaling.;Phosphorylated on Tyr residues in response to EGF (PubMed:27153536). Phosphorylation at Ser-695 is partial and occurs only if Thr-693 is phosphorylated. Phosphorylation at Thr-678 and Thr-693 by PRKD1 inhibits EGF-induced MAPK8/JNK1 activation. Dephosphorylation by PTPRJ prevents endocytosis and stabilizes the receptor at the plasma membrane. Autophosphorylation at Tyr-1197 is stimulated by methylation at Arg-1199 and enhances interaction with PTPN6. Autophosphorylation at Tyr-1092 and/or Tyr-1110 recruits STAT3. Dephosphorylated by PTPN1 and PTPN2.;Methylated. Methylation at Arg-1199 by PRMT5 stimulates phosphorylation at Tyr-1197. Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily. MAPK signaling pathway;ErbB signaling pathway;Calcium signaling pathway;Cytokine-cytokine receptor interaction;Endocytosis;Dorso-ventral axis formation;Focal adhesion;Adherens junction;Gap junction;Regulation of actin cytoskeleton;GnRH signaling pathway;Epithelial cell signaling in Helicobacter pylori infection;Hepatitis C;Pathways in cancer;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Melanoma;Bladder cancer;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Signal transduction by L1;EGFR downregulation;Signaling by ERBB2;Signaling by ERBB4;SHC1 events in ERBB2 signaling;GRB2 events in ERBB2 signaling;PI3K events in ERBB2 signaling;EGFR Transactivation by Gastrin;Signaling by EGFR;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;GAB1 signalosome;Constitutive Signaling by EGFRvIII;GRB2 events in EGFR signaling;SHC1 events in EGFR signaling;PLCG1 events in ERBB2 signaling;EGFR interacts with phospholipase C-gamma;Inhibition of Signaling by Overexpressed EGFR;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;ERBB2 Regulates Cell Motility;ERBB2 Activates PTK6 Signaling;PTK6 promotes HIF1A stabilization;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;TFAP2 (AP-2) family regulates transcription of growth factors and their receptors;Downregulation of ERBB2 signaling;NOTCH3 Activation and Transmission of Signal to the Nucleus;Extra-nuclear estrogen signaling;Estrogen-dependent nuclear events downstream of ESR-membrane signaling PE1 7 +NX_P00540 Proto-oncogene serine/threonine-protein kinase mos 346 37820 9.15 0 NA NA NA NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. MAPK signaling pathway;Oocyte meiosis;Regulation of actin cytoskeleton;Progesterone-mediated oocyte maturation PE1 8 +NX_P00558 Phosphoglycerate kinase 1 417 44615 8.3 0 Cytoplasm Phosphoglycerate kinase 1 deficiency Catalyzes one of the two ATP producing reactions in the glycolytic pathway via the reversible conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate (PubMed:30323285, PubMed:7391028). In addition to its role as a glycolytic enzyme, it seems that PGK-1 acts as a polymerase alpha cofactor protein (primer recognition protein) (PubMed:2324090). May play a role in sperm motility (PubMed:26677959). NA Belongs to the phosphoglycerate kinase family. Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 2/5.;Glycolysis / Gluconeogenesis;Metabolic pathways;Glycolysis;Gluconeogenesis PE1 X +NX_P00568 Adenylate kinase isoenzyme 1 194 21635 8.73 0 Cytoplasm;Cytosol Hemolytic anemia due to adenylate kinase deficiency Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. NA Belongs to the adenylate kinase family. AK1 subfamily. Purine metabolism;Metabolic pathways;Interconversion of nucleotide di- and triphosphates PE1 9 +NX_P00709 Alpha-lactalbumin 142 16225 4.83 0 Secreted NA Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins. NA Belongs to the glycosyl hydrolase 22 family. Galactose metabolism;Metabolic pathways;Lactose synthesis PE1 12 +NX_P00734 Prothrombin 622 70037 5.64 0 Extracellular space Factor II deficiency;Pregnancy loss, recurrent, 2;Ischemic stroke;Thrombophilia due to thrombin defect Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing. N-glycosylated. N-glycan heterogeneity at Asn-121: Hex3HexNAc3 (minor), Hex4HexNAc3 (minor) and Hex5HexNAc4 (major). At Asn-143: Hex4HexNAc3 (minor) and Hex5HexNAc4 (major).;The gamma-carboxyglutamyl residues, which bind calcium ions, result from the carboxylation of glutamyl residues by a microsomal enzyme, the vitamin K-dependent carboxylase. The modified residues are necessary for the calcium-dependent interaction with a negatively charged phospholipid surface, which is essential for the conversion of prothrombin to thrombin. Belongs to the peptidase S1 family. Neuroactive ligand-receptor interaction;Complement and coagulation cascades;Regulation of actin cytoskeleton;Peptide ligand-binding receptors;G alpha (q) signalling events;Common Pathway of Fibrin Clot Formation;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Thrombin signalling through proteinase activated receptors (PARs);Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Intrinsic Pathway of Fibrin Clot Formation;Platelet Aggregation (Plug Formation);Gamma-carboxylation of protein precursors;Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus;Removal of aminoterminal propeptides from gamma-carboxylated proteins PE1 11 +NX_P00736 Complement C1r subcomponent 705 80119 5.82 0 Nucleoplasm;Cytosol;Secreted Ehlers-Danlos syndrome, periodontal type, 1 C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the classical pathway of the complement system. The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. Belongs to the peptidase S1 family. Phagosome;Complement and coagulation cascades;Pertussis;Staphylococcus aureus infection;Systemic lupus erythematosus;Regulation of Complement cascade;Initial triggering of complement;Classical antibody-mediated complement activation PE1 12 +NX_P00738 Haptoglobin 406 45205 6.13 0 Secreted Anhaptoglobinemia The uncleaved form of allele alpha-2 (2-2), known as zonulin, plays a role in intestinal permeability, allowing intercellular tight junction disassembly, and controlling the equilibrium between tolerance and immunity to non-self antigens.;As a result of hemolysis, hemoglobin is found to accumulate in the kidney and is secreted in the urine. Haptoglobin captures, and combines with free plasma hemoglobin to allow hepatic recycling of heme iron and to prevent kidney damage. Haptoglobin also acts as an antioxidant, has antibacterial activity, and plays a role in modulating many aspects of the acute phase response. Hemoglobin/haptoglobin complexes are rapidly cleared by the macrophage CD163 scavenger receptor expressed on the surface of liver Kupfer cells through an endocytic lysosomal degradation pathway. NA Belongs to the peptidase S1 family. Scavenging of heme from plasma;Neutrophil degranulation PE1 16 +NX_P00739 Haptoglobin-related protein 348 39030 6.63 0 Secreted NA Primate-specific plasma protein associated with apolipoprotein L-I (apoL-I)-containing high-density lipoprotein (HDL). This HDL particle, termed trypanosome lytic factor-1 (TLF-1), mediates human innate immune protection against many species of African trypanosomes. Binds hemoglobin with high affinity and may contribute to the clearance of cell-free hemoglobin to allow hepatic recycling of heme iron. NA Belongs to the peptidase S1 family. African trypanosomiasis;Scavenging of heme from plasma PE1 16 +NX_P00740 Coagulation factor IX 461 51778 5.34 0 Secreted Hemophilia B;Thrombophilia, X-linked, due to factor IX defect Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa. Predominantly O-glucosylated at Ser-99 by POGLUT1 in vitro. Xylosylation at this site is minor.;The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.;Activated by factor XIa, which excises the activation peptide (PubMed:9169594, PubMed:1730085). The propeptide can also be removed by snake venom protease (PubMed:20004170, PubMed:20080729). Belongs to the peptidase S1 family. Complement and coagulation cascades;Extrinsic Pathway of Fibrin Clot Formation;Intrinsic Pathway of Fibrin Clot Formation;Gamma-carboxylation of protein precursors;Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus;Removal of aminoterminal propeptides from gamma-carboxylated proteins PE1 X +NX_P00742 Coagulation factor X 488 54732 5.68 0 Secreted Factor X deficiency Factor Xa is a vitamin K-dependent glycoprotein that converts prothrombin to thrombin in the presence of factor Va, calcium and phospholipid during blood clotting. The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.;N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.;The vitamin K-dependent, enzymatic carboxylation of some glutamate residues allows the modified protein to bind calcium.;The activation peptide is cleaved by factor IXa (in the intrinsic pathway), or by factor VIIa (in the extrinsic pathway). Belongs to the peptidase S1 family. Complement and coagulation cascades;Extrinsic Pathway of Fibrin Clot Formation;Common Pathway of Fibrin Clot Formation;Intrinsic Pathway of Fibrin Clot Formation;Gamma-carboxylation of protein precursors;Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus;Removal of aminoterminal propeptides from gamma-carboxylated proteins PE1 13 +NX_P00746 Complement factor D 253 27033 7.65 0 Secreted Complement factor D deficiency Factor D cleaves factor B when the latter is complexed with factor C3b, activating the C3bbb complex, which then becomes the C3 convertase of the alternate pathway. Its function is homologous to that of C1s in the classical pathway. NA Belongs to the peptidase S1 family. Complement and coagulation cascades;Staphylococcus aureus infection;Platelet degranulation;Alternative complement activation;Neutrophil degranulation PE1 19 +NX_P00747 Plasminogen 810 90569 7.04 0 Secreted Plasminogen deficiency Angiostatin is an angiogenesis inhibitor that blocks neovascularization and growth of experimental primary and metastatic tumors in vivo.;Plasmin dissolves the fibrin of blood clots and acts as a proteolytic factor in a variety of other processes including embryonic development, tissue remodeling, tumor invasion, and inflammation. In ovulation, weakens the walls of the Graafian follicle. It activates the urokinase-type plasminogen activator, collagenases and several complement zymogens, such as C1 and C5. Cleavage of fibronectin and laminin leads to cell detachment and apoptosis. Also cleaves fibrin, thrombospondin and von Willebrand factor. Its role in tissue remodeling and tumor invasion may be modulated by CSPG4. Binds to cells. In the presence of the inhibitor, the activation involves only cleavage after Arg-580, yielding two chains held together by two disulfide bonds. In the absence of the inhibitor, the activation involves additionally the removal of the activation peptide.;N-linked glycan contains N-acetyllactosamine and sialic acid. O-linked glycans consist of Gal-GalNAc disaccharide modified with up to 2 sialic acid residues (microheterogeneity). Belongs to the peptidase S1 family. Plasminogen subfamily. Neuroactive ligand-receptor interaction;Complement and coagulation cascades;Staphylococcus aureus infection;Influenza A;Degradation of the extracellular matrix;Signaling by PDGF;Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Activation of Matrix Metalloproteinases;Dissolution of Fibrin Clot PE1 6 +NX_P00748 Coagulation factor XII 615 67792 8.04 0 Secreted Factor XII deficiency;Hereditary angioedema 3 Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta-factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa. O- and N-glycosylated. The O-linked polysaccharides were not identified, but are probably the mucin type linked to GalNAc.;Factor XII is activated by kallikrein in alpha-factor XIIa, which is further converted by trypsin into beta-factor XIIa. Alpha-factor XIIa is composed of an NH2-terminal heavy chain, called coagulation factor XIIa heavy chain, and a COOH-terminal light chain, called coagulation factor XIIa light chain, connected by a disulfide bond. Beta-factor XIIa is composed of 2 chains linked by a disulfide bond, an N-terminal nonapeptide, called beta-factor XIIa part 1, and coagulation factor XIIa light chain, also known in this context as beta-factor XIIa part 2. Belongs to the peptidase S1 family. Complement and coagulation cascades;Intrinsic Pathway of Fibrin Clot Formation PE1 5 +NX_P00749 Urokinase-type plasminogen activator 431 48507 8.78 0 Secreted Quebec platelet disorder Specifically cleaves the zymogen plasminogen to form the active enzyme plasmin. Phosphorylation of Ser-158 and Ser-323 abolishes proadhesive ability but does not interfere with receptor binding. Belongs to the peptidase S1 family. Complement and coagulation cascades;Dissolution of Fibrin Clot;Neutrophil degranulation PE1 10 +NX_P00750 Tissue-type plasminogen activator 562 62917 8.14 0 Cytoskeleton;Extracellular space NA Converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Plays a direct role in facilitating neuronal migration. N-glycosylation of Asn-152; the bound oligomannosidic glycan is involved in the interaction with the mannose receptor.;The single chain, almost fully active enzyme, can be further processed into a two-chain fully active form by a cleavage after Arg-310 catalyzed by plasmin, tissue kallikrein or factor Xa.;Characterization of O-linked glycan was studied in Bowes melanoma cell line.;Differential cell-specific N-linked glycosylation gives rise to two glycoforms, type I (glycosylated at Asn-219) and type II (not glycosylated at Asn-219). The single chain type I glycoform is less readily converted into the two-chain form by plasmin, and the two-chain type I glycoform has a lower activity than the two-chain type II glycoform in the presence of fibrin. Belongs to the peptidase S1 family. Complement and coagulation cascades;Signaling by PDGF;Dissolution of Fibrin Clot PE1 8 +NX_P00751 Complement factor B 764 85533 6.67 0 Endoplasmic reticulum;Cell junction;Secreted;Cytoplasmic vesicle Complement factor B deficiency;Macular degeneration, age-related, 14;Hemolytic uremic syndrome atypical 4 Factor B which is part of the alternate pathway of the complement system is cleaved by factor D into 2 fragments: Ba and Bb. Bb, a serine protease, then combines with complement factor 3b to generate the C3 or C5 convertase. It has also been implicated in proliferation and differentiation of preactivated B-lymphocytes, rapid spreading of peripheral blood monocytes, stimulation of lymphocyte blastogenesis and lysis of erythrocytes. Ba inhibits the proliferation of preactivated B-lymphocytes. NA Belongs to the peptidase S1 family. Complement and coagulation cascades;Staphylococcus aureus infection;Regulation of Complement cascade;Activation of C3 and C5;Alternative complement activation PE1 6 +NX_P00797 Renin 406 45057 6.61 0 Membrane;Secreted Renal tubular dysgenesis;Familial juvenile hyperuricemic nephropathy 2 Renin is a highly specific endopeptidase, whose only known function is to generate angiotensin I from angiotensinogen in the plasma, initiating a cascade of reactions that produce an elevation of blood pressure and increased sodium retention by the kidney. NA Belongs to the peptidase A1 family. Renin-angiotensin system;Metabolism of Angiotensinogen to Angiotensins PE1 1 +NX_P00813 Adenosine deaminase 363 40764 5.63 0 Cytoplasm;Cell membrane;Cell junction;Cytoplasmic vesicle lumen;Lysosome;Cytosol Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine (PubMed:8452534, PubMed:16670267). Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4 (PubMed:20959412). Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion (PubMed:11772392). Enhances dendritic cell immunogenicity by affecting dendritic cell costimulatory molecule expression and cytokines and chemokines secretion (By similarity). Enhances CD4+ T-cell differentiation and proliferation (PubMed:20959412). Acts as a positive modulator of adenosine receptors ADORA1 and ADORA2A, by enhancing their ligand affinity via conformational change (PubMed:23193172). Stimulates plasminogen activation (PubMed:15016824). Plays a role in male fertility (PubMed:21919946, PubMed:26166670). Plays a protective role in early postimplantation embryonic development (By similarity). NA Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family. Purine metabolism;Metabolic pathways;Primary immunodeficiency;Purine salvage PE1 20 +NX_P00846 ATP synthase subunit a 226 24817 10.09 6 Mitochondrion inner membrane Mitochondrial infantile bilateral striatal necrosis;Neuropathy, ataxia, and retinitis pigmentosa;Ataxia and polyneuropathy, adult-onset;Leber hereditary optic neuropathy;Leigh syndrome;Cardiomyopathy, infantile hypertrophic;Myopathy, lactic acidosis, and sideroblastic anemia 3;Mitochondrial complex V deficiency, mitochondrial 1 Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Key component of the proton channel; it may play a direct role in the translocation of protons across the membrane. NA Belongs to the ATPase A chain family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Formation of ATP by chemiosmotic coupling;Cristae formation PE1 MT +NX_P00915 Carbonic anhydrase 1 261 28870 6.59 0 Cytoplasm NA Reversible hydration of carbon dioxide. Can hydrates cyanamide to urea. NA Belongs to the alpha-carbonic anhydrase family. Nitrogen metabolism;Reversible hydration of carbon dioxide;Erythrocytes take up carbon dioxide and release oxygen;Erythrocytes take up oxygen and release carbon dioxide;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 8 +NX_P00918 Carbonic anhydrase 2 260 29246 6.87 0 Cytoplasm;Cell membrane Osteopetrosis, autosomal recessive 3 Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of carbon dioxide. Can hydrate cyanamide to urea. Involved in the regulation of fluid secretion into the anterior chamber of the eye. Contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton-coupled peptide absorption. Stimulates the chloride-bicarbonate exchange activity of SLC26A6. NA Belongs to the alpha-carbonic anhydrase family. Nitrogen metabolism;Proximal tubule bicarbonate reclamation;Collecting duct acid secretion;Gastric acid secretion;Pancreatic secretion;Bile secretion;Reversible hydration of carbon dioxide;Erythrocytes take up carbon dioxide and release oxygen;Erythrocytes take up oxygen and release carbon dioxide PE1 8 +NX_P00966 Argininosuccinate synthase 412 46530 8.08 0 Nucleoplasm;Cytosol Citrullinemia 1 One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues. Acetylated by CLOCK in a circadian manner which negatively regulates its enzyme activity. Deacetylated by histone deacetylases. Belongs to the argininosuccinate synthase family. Type 1 subfamily. Nitrogen metabolism; urea cycle; (N(omega)-L-arginino)succinate from L-aspartate and L-citrulline: step 1/1.;Amino-acid biosynthesis; L-arginine biosynthesis; L-arginine from L-ornithine and carbamoyl phosphate: step 2/3.;Alanine, aspartate and glutamate metabolism;Arginine and proline metabolism;Metabolic pathways;Urea cycle PE1 9 +NX_P00973 2'-5'-oligoadenylate synthase 1 400 46029 8.51 0 Cytoplasm;Mitochondrion;Microsome;Secreted;Endoplasmic reticulum;Nucleoplasm;Cytosol;Nucleus NA Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response. In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Synthesizes higher oligomers of 2'-5'-oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication. Can mediate the antiviral effect via the classical RNase L-dependent pathway or an alternative antiviral pathway independent of RNase L. The secreted form displays antiviral effect against vesicular stomatitis virus (VSV), herpes simplex virus type 2 (HSV-2), and encephalomyocarditis virus (EMCV) and stimulates the alternative antiviral pathway independent of RNase L. NA Belongs to the 2-5A synthase family. Hepatitis C;Measles;Influenza A;Herpes simplex infection;Interferon gamma signaling;Interferon alpha/beta signaling;OAS antiviral response PE1 12 +NX_P00995 Serine protease inhibitor Kazal-type 1 79 8507 7.54 0 Secreted Pancreatitis, hereditary;Tropical calcific pancreatitis In the male reproductive tract, binds to sperm heads where it modulates sperm capacitance by inhibiting calcium uptake and nitrogen oxide (NO) production.;Serine protease inhibitor which exhibits anti-trypsin activity (PubMed:7142173). In the pancreas, protects against trypsin-catalyzed premature activation of zymogens (By similarity). NA NA NA PE1 5 +NX_P01008 Antithrombin-III 464 52602 6.32 0 Extracellular space Antithrombin III deficiency Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa. Its inhibitory activity is greatly enhanced in the presence of heparin. Phosphorylated by FAM20C in the extracellular medium. Belongs to the serpin family. Complement and coagulation cascades;Common Pathway of Fibrin Clot Formation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Intrinsic Pathway of Fibrin Clot Formation;Post-translational protein phosphorylation PE1 1 +NX_P01009 Alpha-1-antitrypsin 418 46737 5.37 0 Endoplasmic reticulum;Extracellular matrix;Secreted;Cytoplasmic vesicle Alpha-1-antitrypsin deficiency Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity against insulin and plasmin.;Short peptide from AAT: reversible chymotrypsin inhibitor. It also inhibits elastase, but not trypsin. Its major physiological function is the protection of the lower respiratory tract against proteolytic destruction by human leukocyte elastase (HLE). Proteolytic processing may yield the truncated form that ranges from Asp-30 to Lys-418.;(Microbial infection) Proteolytically processed by Staphylococcus aureus seryl, cysteinyl, and metallo-proteases.;N-glycosylated. Differential glycosylation produces a number of isoforms. N-linked glycan at Asn-107 is alternatively di-antennary, tri-antennary or tetra-antennary. The glycan at Asn-70 is di-antennary with trace amounts of tri-antennary. Glycan at Asn-271 is exclusively di-antennary. Structure of glycans at Asn-70 and Asn-271 is Hex5HexNAc4. The structure of the antennae is Neu5Ac(alpha1-6)Gal(beta1-4)GlcNAc attached to the core structure Man(alpha1-6)[Man(alpha1-3)]Man(beta1-4)GlcNAc(beta1-4)GlcNAc. Some antennae are fucosylated, which forms a Lewis-X determinant. Belongs to the serpin family. Complement and coagulation cascades;Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);COPII-mediated vesicle transport;Cargo concentration in the ER;Neutrophil degranulation;Post-translational protein phosphorylation PE1 14 +NX_P01011 Alpha-1-antichymotrypsin 423 47651 5.33 0 Secreted NA Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2. N- and O-glycosylated. Belongs to the serpin family. Platelet degranulation;Neutrophil degranulation PE1 14 +NX_P01019 Angiotensinogen 485 53154 5.87 0 Secreted Essential hypertension;Renal tubular dysgenesis Essential component of the renin-angiotensin system (RAS), a potent regulator of blood pressure, body fluid and electrolyte homeostasis.;Angiotensin-2: acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone.;Angiotensin-3: stimulates aldosterone release.;Angiotensin 1-7: is a ligand for the G-protein coupled receptor MAS1. Has vasodilator and antidiuretic effects. Has an antithrombotic effect that involves MAS1-mediated release of nitric oxide from platelets. The disulfide bond is labile. Angiotensinogen is present in the circulation in a near 40:60 ratio with the oxidized disulfide-bonded form, which preferentially interacts with receptor-bound renin.;Beta-decarboxylation of Asp-34 in angiotensin-2, by mononuclear leukocytes produces alanine. The resulting peptide form, angiotensin-A, has the same affinity for the AT1 receptor as angiotensin-2, but a higher affinity for the AT2 receptor.;In response to low blood pressure, the enzyme renin/REN cleaves angiotensinogen to produce angiotensin-1. Angiotensin-1 is a substrate of ACE (angiotensin converting enzyme) that removes a dipeptide to yield the physiologically active peptide angiotensin-2. Angiotensin-1 and angiotensin-2 can be further processed to generate angiotensin-3, angiotensin-4. Angiotensin 1-9 is cleaved from angiotensin-1 by ACE2 and can be further processed by ACE to produce angiotensin 1-7, angiotensin 1-5 and angiotensin 1-4. Angiotensin 1-7 has also been proposed to be cleaved from angiotensin-2 by ACE2 or from angiotensin-1 by MME (neprilysin). Belongs to the serpin family. Renin-angiotensin system;G alpha (i) signalling events;Peptide ligand-binding receptors;G alpha (q) signalling events;PPARA activates gene expression;Metabolism of Angiotensinogen to Angiotensins PE1 1 +NX_P01023 Alpha-2-macroglobulin 1474 163291 6.03 0 Secreted NA Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region, a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase. NA Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family. Complement and coagulation cascades;Degradation of the extracellular matrix;Rho GTPase cycle;Platelet degranulation;Intrinsic Pathway of Fibrin Clot Formation;HDL assembly PE1 12 +NX_P01024 Complement C3 1663 187148 6.02 0 Secreted Macular degeneration, age-related, 9;Hemolytic uremic syndrome atypical 5;Complement component 3 deficiency C3 plays a central role in the activation of the complement system. Its processing by C3 convertase is the central reaction in both classical and alternative complement pathways. After activation C3b can bind covalently, via its reactive thioester, to cell surface carbohydrates or immune aggregates.;Acylation stimulating protein: adipogenic hormone that stimulates triglyceride (TG) synthesis and glucose transport in adipocytes, regulating fat storage and playing a role in postprandial TG clearance. Appears to stimulate TG synthesis via activation of the PLC, MAPK and AKT signaling pathways. Ligand for C5AR2. Promotes the phosphorylation, ARRB2-mediated internalization and recycling of C5AR2 (PubMed:8376604, PubMed:2909530, PubMed:9059512, PubMed:10432298, PubMed:15833747, PubMed:16333141, PubMed:19615750).;Derived from proteolytic degradation of complement C3, C3a anaphylatoxin is a mediator of local inflammatory process. In chronic inflammation, acts as a chemoattractant for neutrophils (By similarity). It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes.;C3-beta-c: Acts as a chemoattractant for neutrophils in chronic inflammation. C3b is rapidly split in two positions by factor I and a cofactor to form iC3b (inactivated C3b) and C3f which is released. Then iC3b is slowly cleaved (possibly by factor I) to form C3c (beta chain + alpha' chain fragment 1 + alpha' chain fragment 2), C3dg and C3f. Other proteases produce other fragments such as C3d or C3g. C3a is further processed by carboxypeptidases to release the C-terminal arginine residue generating the acylation stimulating protein (ASP). Levels of ASP are increased in adipocytes in the postprandial period and by insulin and dietary chylomicrons.;Phosphorylated by FAM20C in the extracellular medium.;(Microbial infection) C3 is cleaved by Staphylococcus aureus aureolysin; this cleavage renders C3a and C3b inactive. C3b is rapidly degraded by host factors CFH and CFI preventing its deposition on the bacterial surface while C3a is further inactivated by aureolysin. NA Phagosome;Complement and coagulation cascades;Pertussis;Legionellosis;Leishmaniasis;Chagas disease (American trypanosomiasis);Staphylococcus aureus infection;Tuberculosis;Herpes simplex infection;Systemic lupus erythematosus;G alpha (i) signalling events;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Peptide ligand-binding receptors;Regulation of Complement cascade;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Activation of C3 and C5;Alternative complement activation;Neutrophil degranulation;Post-translational protein phosphorylation PE1 19 +NX_P01031 Complement C5 1676 188305 6.11 0 Secreted Complement component 5 deficiency Activation of C5 by a C5 convertase initiates the spontaneous assembly of the late complement components, C5-C9, into the membrane attack complex. C5b has a transient binding site for C6. The C5b-C6 complex is the foundation upon which the lytic complex is assembled.;Derived from proteolytic degradation of complement C5, C5 anaphylatoxin is a mediator of local inflammatory process. Binding to the receptor C5AR1 induces a variety of responses including intracellular calcium release, contraction of smooth muscle, increased vascular permeability, and histamine release from mast cells and basophilic leukocytes (PubMed:8182049). C5a is also a potent chemokine which stimulates the locomotion of polymorphonuclear leukocytes and directs their migration toward sites of inflammation. NA NA Complement and coagulation cascades;Prion diseases;Pertussis;Staphylococcus aureus infection;Herpes simplex infection;Systemic lupus erythematosus;G alpha (i) signalling events;Peptide ligand-binding receptors;Terminal pathway of complement;Regulation of Complement cascade;Activation of C3 and C5 PE1 9 +NX_P01033 Metalloproteinase inhibitor 1 207 23171 8.46 0 Golgi apparatus;Secreted NA Metalloproteinase inhibitor that functions by forming one to one complexes with target metalloproteinases, such as collagenases, and irreversibly inactivates them by binding to their catalytic zinc cofactor. Acts on MMP1, MMP2, MMP3, MMP7, MMP8, MMP9, MMP10, MMP11, MMP12, MMP13 and MMP16. Does not act on MMP14. Also functions as a growth factor that regulates cell differentiation, migration and cell death and activates cellular signaling cascades via CD63 and ITGB1. Plays a role in integrin signaling. Mediates erythropoiesis in vitro; but, unlike IL3, it is species-specific, stimulating the growth and differentiation of only human and murine erythroid progenitors. N-glycosylated.;The activity of TIMP1 is dependent on the presence of disulfide bonds. Belongs to the protease inhibitor I35 (TIMP) family. Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Activation of Matrix Metalloproteinases;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling;Post-translational protein phosphorylation PE1 X +NX_P01034 Cystatin-C 146 15799 9 0 Golgi apparatus;Cytoplasmic vesicle;Secreted Amyloidosis 6;Macular degeneration, age-related, 11 As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity. The Thr-25 variant is O-glycosylated with a core 1 or possibly core 8 glycan. The signal peptide of the O-glycosylated Thr-25 variant is cleaved between Ala-20 and Val-21. Belongs to the cystatin family. Salivary secretion;Amyloid fiber formation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Neutrophil degranulation;Post-translational protein phosphorylation PE1 20 +NX_P01036 Cystatin-S 141 16214 4.95 0 Secreted NA This protein strongly inhibits papain and ficin, partially inhibits stem bromelain and bovine cathepsin C, but does not inhibit porcine cathepsin B or clostripain. Papain is inhibited non-competitively. Phosphorylated at both its N- and C-terminal regions. Belongs to the cystatin family. Salivary secretion PE1 20 +NX_P01037 Cystatin-SN 141 16388 6.73 0 Secreted NA Human saliva appears to contain several cysteine proteinase inhibitors that are immunologically related to cystatin S but that differ in their specificity due to amino acid sequence differences. Cystatin SN, with a pI of 7.5, is a much better inhibitor of papain and dipeptidyl peptidase I than is cystatin S, although both inhibit ficin equally well. NA Belongs to the cystatin family. Salivary secretion PE1 20 +NX_P01040 Cystatin-A 98 11006 5.38 0 Nucleoplasm;Cytosol;Cytoplasm Peeling skin syndrome 4 This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis. NA Belongs to the cystatin family. Formation of the cornified envelope PE1 3 +NX_P01042 Kininogen-1 644 71957 6.34 0 Extracellular space High molecular weight kininogen deficiency (1) Kininogens are inhibitors of thiol proteases; (2) HMW-kininogen plays an important role in blood coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; (3) HMW-kininogen inhibits the thrombin- and plasmin-induced aggregation of thrombocytes; (4) the active peptide bradykinin that is released from HMW-kininogen shows a variety of physiological effects: (4A) influence in smooth muscle contraction, (4B) induction of hypotension, (4C) natriuresis and diuresis, (4D) decrease in blood glucose level, (4E) it is a mediator of inflammation and causes (4E1) increase in vascular permeability, (4E2) stimulation of nociceptors (4E3) release of other mediators of inflammation (e.g. Prostaglandins), (4F) it has a cardioprotective effect (directly via bradykinin action, indirectly via endothelium-derived relaxing factor action); (5) LMW-kininogen inhibits the aggregation of thrombocytes; (6) LMW-kininogen is in contrast to HMW-kininogen not involved in blood clotting. Bradykinin is released from kininogen by plasma kallikrein.;Phosphorylated by FAM20C in the extracellular medium.;Hydroxylation of Pro-383 occurs prior to the release of bradykinin.;N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. NA Complement and coagulation cascades;G alpha (i) signalling events;Peptide ligand-binding receptors;G alpha (q) signalling events;Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Intrinsic Pathway of Fibrin Clot Formation;Post-translational protein phosphorylation PE1 3 +NX_P01100 Proto-oncogene c-Fos 380 40695 4.77 0 Nucleoplasm;Endoplasmic reticulum;Cytosol;Nucleus NA Nuclear phosphoprotein which forms a tight but non-covalently linked complex with the JUN/AP-1 transcription factor. In the heterodimer, FOS and JUN/AP-1 basic regions each seems to interact with symmetrical DNA half sites. On TGF-beta activation, forms a multimeric SMAD3/SMAD4/JUN/FOS complex at the AP1/SMAD-binding site to regulate TGF-beta-mediated signaling. Has a critical function in regulating the development of cells destined to form and maintain the skeleton. It is thought to have an important role in signal transduction, cell proliferation and differentiation. In growing cells, activates phospholipid synthesis, possibly by activating CDS1 and PI4K2A. This activity requires Tyr-dephosphorylation and association with the endoplasmic reticulum. In quiescent cells, the small amount of FOS present is phosphorylated at Tyr-10 and Tyr-30 by SRC. This Tyr-phosphorylated form is cytosolic. In growing cells, dephosphorylated by PTPN2. Dephosphorylation leads to the association with endoplasmic reticulum membranes and activation of phospholipid synthesis.;Constitutively sumoylated with SUMO1, SUMO2 and SUMO3. Desumoylated by SENP2. Sumoylation requires heterodimerization with JUN and is enhanced by mitogen stimulation. Sumoylation inhibits the AP-1 transcriptional activity and is, itself, inhibited by Ras-activated phosphorylation on Thr-232.;Phosphorylated in the C-terminal upon stimulation by nerve growth factor (NGF) and epidermal growth factor (EGF). Phosphorylated, in vitro, by MAPK and RSK1. Phosphorylation on both Ser-362 and Ser-374 by MAPK1/2 and RSK1/2 leads to protein stabilization with phosphorylation on Ser-374 being the major site for protein stabilization on NGF stimulation. Phosphorylation on Ser-362 and Ser-374 primes further phosphorylations on Thr-325 and Thr-331 through promoting docking of MAPK to the DEF domain. Phosphorylation on Thr-232, induced by HA-RAS, activates the transcriptional activity and antagonizes sumoylation. Phosphorylation on Ser-362 by RSK2 in osteoblasts contributes to osteoblast transformation (By similarity). Belongs to the bZIP family. Fos subfamily. MAPK signaling pathway;Osteoclast differentiation;Toll-like receptor signaling pathway;T cell receptor signaling pathway;B cell receptor signaling pathway;Cholinergic synapse;Dopaminergic synapse;Salmonella infection;Pertussis;Leishmaniasis;Chagas disease (American trypanosomiasis);HTLV-I infection;Herpes simplex infection;Pathways in cancer;Colorectal cancer;Rheumatoid arthritis;Oxidative Stress Induced Senescence;FCERI mediated MAPK activation;Senescence-Associated Secretory Phenotype (SASP);Activation of the AP-1 family of transcription factors;TP53 Regulates Transcription of DNA Repair Genes;Interleukin-4 and Interleukin-13 signaling;Estrogen-dependent gene expression;Estrogen-dependent nuclear events downstream of ESR-membrane signaling PE1 14 +NX_P01106 Myc proto-oncogene protein 439 48804 5.33 0 Nucleoplasm;Nucleolus Burkitt lymphoma Transcription factor that binds DNA in a non-specific manner, yet also specifically recognizes the core sequence 5'-CAC[GA]TG-3'. Activates the transcription of growth-related genes. Binds to the VEGFA promoter, promoting VEGFA production and subsequent sprouting angiogenesis (PubMed:24940000). Regulator of somatic reprogramming, controls self-renewal of embryonic stem cells. Functions with TAF6L to activate target gene expression through RNA polymerase II pause release (By similarity). Phosphorylated by PRKDC. Phosphorylation at Ser-329 by PIM2 leads to the stabilization of MYC (By similarity). Phosphorylation at Ser-62 by CDK2 prevents Ras-induced senescence. Phosphorylated at Ser-62 by DYRK2; this primes the protein for subsequent phosphorylation by GSK3B at Thr-58. Phosphorylation at Thr-58 and Ser-62 by GSK3 is required for ubiquitination and degradation by the proteasome.;Ubiquitinated by the SCF(FBXW7) complex when phosphorylated at Thr-58 and Ser-62, leading to its degradation by the proteasome. In the nucleoplasm, ubiquitination is counteracted by USP28, which interacts with isoform 1 of FBXW7 (FBW7alpha), leading to its deubiquitination and preventing degradation. In the nucleolus, however, ubiquitination is not counteracted by USP28 but by USP36, due to the lack of interaction between isoform 3 of FBXW7 (FBW7gamma) and USP28, explaining the selective MYC degradation in the nucleolus (PubMed:25775507,PubMed:17558397). Also polyubiquitinated by the DCX(TRUSS) complex. Ubiquitinated by TRIM6 in a phosphorylation-independent manner (By similarity).;MYC is phosphorylated by MAPK7 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MYC is phosphorylated by PRKDC NA MAPK signaling pathway;ErbB signaling pathway;Cell cycle;Wnt signaling pathway;TGF-beta signaling pathway;Jak-STAT signaling pathway;HTLV-I infection;Pathways in cancer;Colorectal cancer;Endometrial cancer;Thyroid cancer;Bladder cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Small cell lung cancer;MAPK6/MAPK4 signaling;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Cyclin E associated events during G1/S transition;Binding of TCF/LEF:CTNNB1 to target gene promoters;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Cyclin A:Cdk2-associated events at S phase entry;Ub-specific processing proteases;TFAP2 (AP-2) family regulates transcription of cell cycle factors;Interleukin-4 and Interleukin-13 signaling;RUNX3 regulates WNT signaling;Transcription of E2F targets under negative control by DREAM complex;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 8 +NX_P01111 GTPase NRas 189 21229 5.01 0 Golgi apparatus membrane;Cell membrane Thyroid cancer, non-medullary, 2;Noonan syndrome 6;Melanosis, neurocutaneous;Leukemia, juvenile myelomonocytic;Melanocytic nevus syndrome, congenital;Keratinocytic non-epidermolytic nevus;RAS-associated autoimmune leukoproliferative disorder Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Acetylation at Lys-104 prevents interaction with guanine nucleotide exchange factors (GEFs).;Palmitoylated by the ZDHHC9-GOLGA7 complex (PubMed:16000296). Depalmitoylated by ABHD17A, ABHD17B and ABHD17C (PubMed:26701913). A continuous cycle of de- and re-palmitoylation regulates rapid exchange between plasma membrane and Golgi (PubMed:16000296, PubMed:15705808, PubMed:2661017, PubMed:26701913).;Ubiquitinated by the BCR(LZTR1) E3 ubiquitin ligase complex at Lys-170 in a non-degradative manner, leading to inhibit Ras signaling by decreasing Ras association with membranes.;Phosphorylation at Ser-89 by STK19 enhances NRAS-association with its downstream effectors. Belongs to the small GTPase superfamily. Ras family. MAPK signaling pathway;ErbB signaling pathway;Chemokine signaling pathway;Axon guidance;VEGF signaling pathway;Tight junction;Gap junction;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Long-term potentiation;Neurotrophin signaling pathway;Cholinergic synapse;Long-term depression;Regulation of actin cytoskeleton;Insulin signaling pathway;GnRH signaling pathway;Melanogenesis;Hepatitis C;Pathways in cancer;Renal cell carcinoma;Endometrial cancer;Glioma;Prostate cancer;Thyroid cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer;Regulation of RAS by GAPs;RAF/MAP kinase cascade;SHC-mediated cascade:FGFR1;FRS-mediated FGFR1 signaling;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;SHC-mediated cascade:FGFR3;FRS-mediated FGFR3 signaling;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;DAP12 signaling;FCERI mediated MAPK activation;Ras activation upon Ca2+ influx through NMDA receptor;Negative regulation of MAPK pathway;SHC1 events in ERBB2 signaling;SHC1 events in ERBB4 signaling;GRB2 events in ERBB2 signaling;EGFR Transactivation by Gastrin;RAF activation;MAP2K and MAPK activation;Signaling by SCF-KIT;CD209 (DC-SIGN) signaling;Activation of RAS in B cells;NCAM signaling for neurite out-growth;Insulin receptor signalling cascade;VEGFR2 mediated cell proliferation;p38MAPK events;Tie2 Signaling;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Signalling to RAS;SOS-mediated signalling;Downstream signal transduction;Constitutive Signaling by EGFRvIII;Signaling by FGFR4 in disease;GRB2 events in EGFR signaling;SHC1 events in EGFR signaling;SHC-related events triggered by IGF1R;Signaling by FGFR3 point mutants in cancer;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases;Signaling by FGFR3 fusions in cancer;Neutrophil degranulation;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;MET activates RAS signaling;RAS signaling downstream of NF1 loss-of-function variants;Activated NTRK2 signals through RAS;Activated NTRK2 signals through FRS2 and FRS3;Activated NTRK3 signals through RAS;Erythropoietin activates RAS;Estrogen-stimulated signaling through PRKCZ;FLT3 Signaling PE1 1 +NX_P01112 GTPase HRas 189 21298 5.16 0 Cytoplasm;Golgi apparatus;Cell membrane;Nucleoplasm;Golgi apparatus membrane;Cytosol;Perinuclear region;Nucleus Thyroid cancer, non-medullary, 2;Bladder cancer;Congenital myopathy with excess of muscle spindles;Schimmelpenning-Feuerstein-Mims syndrome;Costello syndrome Involved in the activation of Ras protein signal transduction (PubMed:22821884). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:12740440, PubMed:14500341, PubMed:9020151). S-nitrosylated; critical for redox regulation. Important for stimulating guanine nucleotide exchange. No structural perturbation on nitrosylation.;Ubiquitinated by the BCR(LZTR1) E3 ubiquitin ligase complex at Lys-170 in a non-degradative manner, leading to inhibit Ras signaling by decreasing Ras association with membranes.;Acetylation at Lys-104 prevents interaction with guanine nucleotide exchange factors (GEFs).;Palmitoylated by the ZDHHC9-GOLGA7 complex. A continuous cycle of de- and re-palmitoylation regulates rapid exchange between plasma membrane and Golgi.;The covalent modification of cysteine by 15-deoxy-Delta12,14-prostaglandin-J2 is autocatalytic and reversible. It may occur as an alternative to other cysteine modifications, such as S-nitrosylation and S-palmitoylation. Belongs to the small GTPase superfamily. Ras family. MAPK signaling pathway;ErbB signaling pathway;Chemokine signaling pathway;Endocytosis;Axon guidance;VEGF signaling pathway;Focal adhesion;Tight junction;Gap junction;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Long-term potentiation;Neurotrophin signaling pathway;Cholinergic synapse;Long-term depression;Regulation of actin cytoskeleton;Insulin signaling pathway;GnRH signaling pathway;Hepatitis C;HTLV-I infection;Pathways in cancer;Renal cell carcinoma;Endometrial cancer;Glioma;Prostate cancer;Thyroid cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer;Regulation of RAS by GAPs;RAF/MAP kinase cascade;SHC-mediated cascade:FGFR1;FRS-mediated FGFR1 signaling;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;SHC-mediated cascade:FGFR3;FRS-mediated FGFR3 signaling;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;EPHB-mediated forward signaling;DAP12 signaling;FCERI mediated MAPK activation;Ras activation upon Ca2+ influx through NMDA receptor;Negative regulation of MAPK pathway;SHC1 events in ERBB2 signaling;SHC1 events in ERBB4 signaling;GRB2 events in ERBB2 signaling;EGFR Transactivation by Gastrin;RAF activation;MAP2K and MAPK activation;Signaling by SCF-KIT;CD209 (DC-SIGN) signaling;Activation of RAS in B cells;NCAM signaling for neurite out-growth;Insulin receptor signalling cascade;VEGFR2 mediated cell proliferation;p38MAPK events;Tie2 Signaling;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Signalling to RAS;SOS-mediated signalling;Downstream signal transduction;Constitutive Signaling by EGFRvIII;Signaling by FGFR4 in disease;GRB2 events in EGFR signaling;SHC1 events in EGFR signaling;SHC-related events triggered by IGF1R;Signaling by FGFR3 point mutants in cancer;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases;Signaling by FGFR3 fusions in cancer;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;MET activates RAS signaling;RAS signaling downstream of NF1 loss-of-function variants;Activated NTRK2 signals through RAS;Activated NTRK2 signals through FRS2 and FRS3;Activated NTRK3 signals through RAS;Erythropoietin activates RAS;Estrogen-stimulated signaling through PRKCZ;FLT3 Signaling PE1 11 +NX_P01116 GTPase KRas 189 21656 6.33 0 Cytosol;Cell membrane Cardiofaciocutaneous syndrome 2;Gastric cancer;Leukemia, juvenile myelomonocytic;Leukemia, acute myelogenous;Noonan syndrome 3 Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the regulation of cell proliferation (PubMed:23698361, PubMed:22711838). Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner (PubMed:24623306). Ubiquitinated by the BCR(LZTR1) E3 ubiquitin ligase complex at Lys-170 in a non-degradative manner, leading to inhibit Ras signaling by decreasing Ras association with membranes.;Acetylation at Lys-104 prevents interaction with guanine nucleotide exchange factors (GEFs). Belongs to the small GTPase superfamily. Ras family. MAPK signaling pathway;ErbB signaling pathway;Chemokine signaling pathway;Dorso-ventral axis formation;Axon guidance;VEGF signaling pathway;Tight junction;Gap junction;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Long-term potentiation;Neurotrophin signaling pathway;Cholinergic synapse;Long-term depression;Regulation of actin cytoskeleton;Insulin signaling pathway;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;Aldosterone-regulated sodium reabsorption;Hepatitis C;HTLV-I infection;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Thyroid cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer;Regulation of RAS by GAPs;RAF/MAP kinase cascade;SHC-mediated cascade:FGFR1;FRS-mediated FGFR1 signaling;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;SHC-mediated cascade:FGFR3;FRS-mediated FGFR3 signaling;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;DAP12 signaling;FCERI mediated MAPK activation;Ras activation upon Ca2+ influx through NMDA receptor;Negative regulation of MAPK pathway;SHC1 events in ERBB2 signaling;SHC1 events in ERBB4 signaling;GRB2 events in ERBB2 signaling;EGFR Transactivation by Gastrin;RAF activation;MAP2K and MAPK activation;Signaling by SCF-KIT;CD209 (DC-SIGN) signaling;Activation of RAS in B cells;NCAM signaling for neurite out-growth;Insulin receptor signalling cascade;VEGFR2 mediated cell proliferation;p38MAPK events;Tie2 Signaling;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Signalling to RAS;SOS-mediated signalling;Downstream signal transduction;Constitutive Signaling by EGFRvIII;Signaling by FGFR4 in disease;GRB2 events in EGFR signaling;SHC1 events in EGFR signaling;SHC-related events triggered by IGF1R;Signaling by FGFR3 point mutants in cancer;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases;Signaling by FGFR3 fusions in cancer;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;MET activates RAS signaling;RAS signaling downstream of NF1 loss-of-function variants;RUNX3 regulates p14-ARF;Activated NTRK2 signals through RAS;Activated NTRK2 signals through FRS2 and FRS3;Activated NTRK3 signals through RAS;Erythropoietin activates RAS;Estrogen-stimulated signaling through PRKCZ;FLT3 Signaling PE1 12 +NX_P01127 Platelet-derived growth factor subunit B 241 27283 9.39 0 Cytoplasmic vesicle;Secreted Basal ganglia calcification, idiopathic, 5 Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin (PubMed:26599395). Required for normal proliferation and recruitment of pericytes and vascular smooth muscle cells in the central nervous system, skin, lung, heart and placenta. Required for normal blood vessel development, and for normal development of kidney glomeruli. Plays an important role in wound healing. Signaling is modulated by the formation of heterodimers with PDGFA (By similarity). NA Belongs to the PDGF/VEGF growth factor family. MAPK signaling pathway;Cytokine-cytokine receptor interaction;Focal adhesion;Gap junction;Regulation of actin cytoskeleton;HTLV-I infection;Pathways in cancer;Renal cell carcinoma;Glioma;Prostate cancer;Melanoma;RAF/MAP kinase cascade;Signaling by PDGF;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Platelet degranulation;Non-integrin membrane-ECM interactions;Downstream signal transduction;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 22 +NX_P01130 Low-density lipoprotein receptor 860 95376 4.86 1 Golgi apparatus;Cell membrane;Early endosome;Clathrin-coated pit;Late endosome;Lysosome Familial hypercholesterolemia (Microbial infection) In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.;(Microbial infection) Acts as a receptor for Vesicular stomatitis virus.;(Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins.;Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. Ubiquitinated by MYLIP leading to degradation.;N- and O-glycosylated. Belongs to the LDLR family. Endocytosis;Bile secretion;Toxoplasmosis;Hepatitis C;Retinoid metabolism and transport;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;LDL clearance;Chylomicron clearance PE1 19 +NX_P01133 Pro-epidermal growth factor 1207 133994 5.53 1 Membrane Hypomagnesemia 4 EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6. Can induce neurite outgrowth in motoneurons of the pond snail Lymnaea stagnalis in vitro (PubMed:10964941). O-glycosylated with core 1-like and core 2-like glycans. It is uncertain if Ser-954 or Thr-955 is O-glycosylated. The modification here shows glycan heterogeneity: HexHexNAc (major) and Hex2HexNAc2 (minor). NA MAPK signaling pathway;ErbB signaling pathway;Cytokine-cytokine receptor interaction;Endocytosis;Focal adhesion;Gap junction;Regulation of actin cytoskeleton;Hepatitis C;Pathways in cancer;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Melanoma;Bladder cancer;Non-small cell lung cancer;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;EGFR downregulation;Signaling by ERBB2;Signaling by ERBB4;SHC1 events in ERBB2 signaling;GRB2 events in ERBB2 signaling;PI3K events in ERBB2 signaling;Platelet degranulation;Signaling by EGFR;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;GAB1 signalosome;Constitutive Signaling by EGFRvIII;GRB2 events in EGFR signaling;SHC1 events in EGFR signaling;PLCG1 events in ERBB2 signaling;EGFR interacts with phospholipase C-gamma;Inhibition of Signaling by Overexpressed EGFR;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;ERBB2 Regulates Cell Motility;ERBB2 Activates PTK6 Signaling;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Downregulation of ERBB2 signaling;NOTCH3 Activation and Transmission of Signal to the Nucleus;Extra-nuclear estrogen signaling;Estrogen-dependent nuclear events downstream of ESR-membrane signaling PE1 4 +NX_P01135 Protransforming growth factor alpha 160 17006 7.51 1 Cytoplasmic vesicle;Cell membrane;Extracellular space NA TGF alpha is a mitogenic polypeptide that is able to bind to the EGF receptor/EGFR and to act synergistically with TGF beta to promote anchorage-independent cell proliferation in soft agar. NA NA ErbB signaling pathway;Pathways in cancer;Renal cell carcinoma;Pancreatic cancer;Glioma;Prostate cancer;Non-small cell lung cancer;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;EGFR downregulation;Signaling by EGFR;COPII-mediated vesicle transport;GAB1 signalosome;GRB2 events in EGFR signaling;SHC1 events in EGFR signaling;EGFR interacts with phospholipase C-gamma;Inhibition of Signaling by Overexpressed EGFR;Cargo concentration in the ER;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;TFAP2 (AP-2) family regulates transcription of growth factors and their receptors;Estrogen-dependent gene expression;Extra-nuclear estrogen signaling;Estrogen-dependent nuclear events downstream of ESR-membrane signaling PE1 2 +NX_P01137 Transforming growth factor beta-1 proprotein 390 44341 8.83 0 Golgi apparatus;Cytosol;Extracellular matrix;Secreted Inflammatory bowel disease, immunodeficiency, and encephalopathy;Camurati-Engelmann disease Transforming growth factor beta-1 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains, which constitute the regulatory and active subunit of TGF-beta-1, respectively.;Latency-associated peptide: Required to maintain the Transforming growth factor beta-1 (TGF-beta-1) chain in a latent state during storage in extracellular matrix (PubMed:28117447). Associates non-covalently with TGF-beta-1 and regulates its activation via interaction with 'milieu molecules', such as LTBP1, LRRC32/GARP and LRRC33/NRROS, that control activation of TGF-beta-1 (PubMed:2022183, PubMed:8617200, PubMed:8939931, PubMed:19750484, PubMed:22278742, PubMed:19651619). Interaction with LRRC33/NRROS regulates activation of TGF-beta-1 in macrophages and microglia (Probable). Interaction with LRRC32/GARP controls activation of TGF-beta-1 on the surface of activated regulatory T-cells (Tregs) (PubMed:19750484, PubMed:22278742, PubMed:19651619). Interaction with integrins (ITGAV:ITGB6 or ITGAV:ITGB8) results in distortion of the Latency-associated peptide chain and subsequent release of the active TGF-beta-1 (PubMed:22278742, PubMed:28117447).;Transforming growth factor beta-1: Multifunctional protein that regulates the growth and differentiation of various cell types and is involved in various processes, such as normal development, immune function, microglia function and responses to neurodegeneration (By similarity). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains remain non-covalently linked rendering TGF-beta-1 inactive during storage in extracellular matrix (PubMed:29109152). At the same time, LAP chain interacts with 'milieu molecules', such as LTBP1, LRRC32/GARP and LRRC33/NRROS that control activation of TGF-beta-1 and maintain it in a latent state during storage in extracellular milieus (PubMed:2022183, PubMed:8617200, PubMed:8939931, PubMed:19750484, PubMed:22278742, PubMed:19651619). TGF-beta-1 is released from LAP by integrins (ITGAV:ITGB6 or ITGAV:ITGB8): integrin-binding to LAP stabilizes an alternative conformation of the LAP bowtie tail and results in distortion of the LAP chain and subsequent release of the active TGF-beta-1 (PubMed:22278742, PubMed:28117447). Once activated following release of LAP, TGF-beta-1 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (PubMed:20207738). While expressed by many cells types, TGF-beta-1 only has a very localized range of action within cell environment thanks to fine regulation of its activation by Latency-associated peptide chain (LAP) and 'milieu molecules' (By similarity). Plays an important role in bone remodeling: acts as a potent stimulator of osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts (By similarity). Can promote either T-helper 17 cells (Th17) or regulatory T-cells (Treg) lineage differentiation in a concentration-dependent manner (By similarity). At high concentrations, leads to FOXP3-mediated suppression of RORC and down-regulation of IL-17 expression, favoring Treg cell development (By similarity). At low concentrations in concert with IL-6 and IL-21, leads to expression of the IL-17 and IL-23 receptors, favoring differentiation to Th17 cells (By similarity). Stimulates sustained production of collagen through the activation of CREB3L1 by regulated intramembrane proteolysis (RIP) (PubMed:25310401). Mediates SMAD2/3 activation by inducing its phosphorylation and subsequent translocation to the nucleus (PubMed:25893292, PubMed:29483653). Can induce epithelial-to-mesenchymal transition (EMT) and cell migration in various cell types (PubMed:25893292). Latency-associated peptide: N-glycosylated (PubMed:3162913, PubMed:2493139, PubMed:28117447). Deglycosylation leads to activation of Transforming growth factor beta-1 (TGF-beta-1); mechanisms triggering deglycosylation-driven activation of TGF-beta-1 are however unclear (PubMed:2493139).;Transforming growth factor beta-1 proprotein: The precursor proprotein is cleaved in the Golgi apparatus by FURIN to form Transforming growth factor beta-1 (TGF-beta-1) and Latency-associated peptide (LAP) chains, which remain non-covalently linked, rendering TGF-beta-1 inactive. Belongs to the TGF-beta family. MAPK signaling pathway;Cytokine-cytokine receptor interaction;Cell cycle;Endocytosis;TGF-beta signaling pathway;Osteoclast differentiation;Intestinal immune network for IgA production;Leishmaniasis;Chagas disease (American trypanosomiasis);Malaria;Toxoplasmosis;Amoebiasis;Tuberculosis;HTLV-I infection;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Chronic myeloid leukemia;Rheumatoid arthritis;TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition);Syndecan interactions;Cell surface interactions at the vascular wall;Platelet degranulation;ECM proteoglycans;Molecules associated with elastic fibres;Downregulation of TGF-beta receptor signaling;Transcriptional regulation of white adipocyte differentiation;TGF-beta receptor signaling activates SMADs;SMAD2/3 Phosphorylation Motif Mutants in Cancer;TGFBR1 KD Mutants in Cancer;TGFBR2 Kinase Domain Mutants in Cancer;TGFBR1 LBD Mutants in Cancer;TGFBR2 MSI Frameshift Mutants in Cancer;Influenza Virus Induced Apoptosis;UCH proteinases;Interleukin-4 and Interleukin-13 signaling;Regulation of RUNX3 expression and activity;RUNX3 regulates CDKN1A transcription;RUNX3 regulates p14-ARF PE1 19 +NX_P01138 Beta-nerve growth factor 241 26959 9.94 0 Endosome lumen;Secreted Neuropathy, hereditary sensory and autonomic, 5 Nerve growth factor is important for the development and maintenance of the sympathetic and sensory nervous systems (PubMed:14976160, PubMed:20978020). Extracellular ligand for the NTRK1 and NGFR receptors, activates cellular signaling cascades to regulate neuronal proliferation, differentiation and survival (PubMed:20978020) (Probable). The immature NGF precursor (proNGF) functions as ligand for the heterodimeric receptor formed by SORCS2 and NGFR, and activates cellular signaling cascades that lead to inactivation of RAC1 and/or RAC2, reorganization of the actin cytoskeleton and neuronal growth cone collapse. In contrast to mature NGF, the precursor form (proNGF) promotes neuronal apoptosis (in vitro) (By similarity). Inhibits metalloproteinase-dependent proteolysis of platelet glycoprotein VI (PubMed:20164177). Binds lysophosphatidylinositol and lysophosphatidylserine between the two chains of the homodimer. The lipid-bound form promotes histamine relase from mast cells, contrary to the lipid-free form (By similarity). NA Belongs to the NGF-beta family. MAPK signaling pathway;Apoptosis;Neurotrophin signaling pathway;Axonal growth stimulation;NRAGE signals death through JNK;p75NTR recruits signalling complexes;Signalling to p38 via RIT and RIN;Retrograde neurotrophin signalling;ARMS-mediated activation;p75NTR negatively regulates cell cycle via SC1;NF-kB is activated and signals survival;NRIF signals cell death from the nucleus;Signalling to RAS;NGF processing;NADE modulates death signalling;Frs2-mediated activation;PI3K/AKT activation;Ceramide signalling;NFG and proNGF binds to p75NTR;PLC-gamma1 signalling;TRKA activation by NGF;Signalling to STAT3 PE1 1 +NX_P01148 Progonadoliberin-1 92 10380 6.1 0 Secreted Hypogonadotropic hypogonadism 12 with or without anosmia Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones. NA Belongs to the GnRH family. GnRH signaling pathway;G alpha (q) signalling events;Hormone ligand-binding receptors PE1 8 +NX_P01160 Natriuretic peptides A 153 16708 6.59 0 Secreted Atrial fibrillation, familial, 6;Atrial standstill 2 Hormone playing a key role in cardiovascular homeostasis through regulation of natriuresis, diuresis, and vasodilation. Also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3. Atrial natriuretic factor: Cleaved by MME. The cleavage initiates degradation of the factor and thereby regulate its activity.;Cleaved by CORIN upon secretion to produce the functional hormone. Belongs to the natriuretic peptide family. YAP1- and WWTR1 (TAZ)-stimulated gene expression;Amyloid fiber formation;Physiological factors PE1 1 +NX_P01178 Oxytocin-neurophysin 1 125 12722 5.72 0 Secreted NA Oxytocin causes contraction of the smooth muscle of the uterus and of the mammary gland. Acts by binding to oxytocin receptor (OXTR) (PubMed:18174156).;Neurophysin 1 specifically binds oxytocin. NA Belongs to the vasopressin/oxytocin family. G alpha (q) signalling events;Vasopressin-like receptors PE1 20 +NX_P01185 Vasopressin-neurophysin 2-copeptin 164 17325 5.2 0 Secreted Diabetes insipidus, neurohypophyseal Neurophysin 2 specifically binds vasopressin.;Vasopressin has a direct antidiuretic action on the kidney, it also causes vasoconstriction of the peripheral vessels. Acts by binding to vasopressin receptors (V1bR/AVPR1B, V1aR/AVPR1A, and V2R/AVPR2) (PubMed:18174156). NA Belongs to the vasopressin/oxytocin family. Vasopressin-regulated water reabsorption;G alpha (q) signalling events;G alpha (s) signalling events;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Vasopressin regulates renal water homeostasis via Aquaporins;Transport of organic anions;Vasopressin-like receptors;Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI);Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI) PE1 20 +NX_P01189 Pro-opiomelanocortin 267 29424 7.57 0 Secreted Obesity;Obesity, early-onset, with adrenal insufficiency and red hair Met-enkephalin: Endogenous opiate.;Corticotropin: Stimulates the adrenal glands to release cortisol.;Melanocyte-stimulating hormone alpha: Anorexigenic peptide. Increases the pigmentation of skin by increasing melanin production in melanocytes.;Beta-endorphin: Endogenous orexigenic opiate.;Melanocyte-stimulating hormone beta: Increases the pigmentation of skin by increasing melanin production in melanocytes. Specific enzymatic cleavages at paired basic residues yield the different active peptides.;O-glycosylated; reducing sugar is probably N-acetylgalactosamine. Belongs to the POMC family. Melanogenesis;Adipocytokine signaling pathway;G alpha (i) signalling events;Peptide ligand-binding receptors;G alpha (s) signalling events;Endogenous sterols;G-protein activation;Glucocorticoid biosynthesis;Opioid Signalling;Androgen biosynthesis;Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD);Peptide hormone biosynthesis;Interleukin-4 and Interleukin-13 signaling;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 2 +NX_P01210 Proenkephalin-A 267 30787 5.44 0 Secreted NA Met- and Leu-enkephalins compete with and mimic the effects of opiate drugs. They play a role in a number of physiologic functions, including pain perception and responses to stress. PENK(114-133) and PENK(237-258) increase glutamate release in the striatum. PENK(114-133) decreases GABA concentration in the striatum. The N-terminal domain contains 6 conserved cysteines thought to be involved in disulfide bonding and/or processing. Belongs to the opioid neuropeptide precursor family. G alpha (i) signalling events;Peptide ligand-binding receptors;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 8 +NX_P01213 Proenkephalin-B 254 28385 6.07 0 Secreted Spinocerebellar ataxia 23 Leu-enkephalins compete with and mimic the effects of opiate drugs. They play a role in a number of physiologic functions, including pain perception and responses to stress (By similarity).;Dynorphin peptides differentially regulate the kappa opioid receptor. Dynorphin A(1-13) has a typical opiod activity, it is 700 times more potent than Leu-enkephalin (By similarity).;Leumorphin has a typical opiod activity and may have anti-apoptotic effect. The N-terminal domain contains 6 conserved cysteines thought to be involved in disulfide bonding and/or processing. Belongs to the opioid neuropeptide precursor family. G alpha (i) signalling events;Peptide ligand-binding receptors;G-protein activation;Opioid Signalling PE1 20 +NX_P01215 Glycoprotein hormones alpha chain 116 13075 8.54 0 Secreted NA Shared alpha chain of the active heterodimeric glycoprotein hormones thyrotropin/thyroid stimulating hormone/TSH, lutropin/luteinizing hormone/LH, follitropin/follicle stimulating hormone/FSH and choriogonadotropin/CG. These hormones bind specific receptors on target cells that in turn activate downstream signaling pathways. NA Belongs to the glycoprotein hormones subunit alpha family. Neuroactive ligand-receptor interaction;GnRH signaling pathway;Autoimmune thyroid disease;G alpha (s) signalling events;Glycoprotein hormones;Reactions specific to the complex N-glycan synthesis pathway;Thyroxine biosynthesis;Hormone ligand-binding receptors;Androgen biosynthesis;Mineralocorticoid biosynthesis;TFAP2 (AP-2) family regulates transcription of growth factors and their receptors PE1 6 +NX_P01222 Thyrotropin subunit beta 138 15639 7.92 0 Secreted NA Indispensable for the control of thyroid structure and metabolism. NA Belongs to the glycoprotein hormones subunit beta family. Neuroactive ligand-receptor interaction;Autoimmune thyroid disease;G alpha (s) signalling events;Glycoprotein hormones;Thyroxine biosynthesis;Hormone ligand-binding receptors PE1 1 +NX_P01225 Follitropin subunit beta 129 14700 6.77 0 Secreted Hypogonadotropic hypogonadism 24 without anosmia Together with the alpha chain CGA constitutes follitropin, the follicle-stimulating hormone, and provides its biological specificity to the hormone heterodimer. Binds FSHR, a G protein-coupled receptor, on target cells to activate downstream signaling pathways (PubMed:2494176, PubMed:24692546). Follitropin is involved in follicle development and spermatogenesis in reproductive organs (PubMed:407105, PubMed:8220432). NA Belongs to the glycoprotein hormones subunit beta family. Neuroactive ligand-receptor interaction;GnRH signaling pathway;G alpha (s) signalling events;Glycoprotein hormones;Hormone ligand-binding receptors PE1 11 +NX_P01229 Lutropin subunit beta 141 15345 8 0 Secreted Hypogonadotropic hypogonadism 23 without anosmia Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. NA Belongs to the glycoprotein hormones subunit beta family. Neuroactive ligand-receptor interaction;GnRH signaling pathway;G alpha (s) signalling events;Glycoprotein hormones;Reactions specific to the complex N-glycan synthesis pathway;Hormone ligand-binding receptors;Androgen biosynthesis;Mineralocorticoid biosynthesis PE1 19 +NX_P01236 Prolactin 227 25876 6.5 0 Secreted NA Prolactin acts primarily on the mammary gland by promoting lactation. NA Belongs to the somatotropin/prolactin family. Cytokine-cytokine receptor interaction;Neuroactive ligand-receptor interaction;Jak-STAT signaling pathway;Amyloid fiber formation;Prolactin receptor signaling;Growth hormone receptor signaling PE1 6 +NX_P01241 Somatotropin 217 24847 5.29 0 Secreted Growth hormone deficiency, isolated, 1A;Kowarski syndrome;Growth hormone deficiency, isolated, 2;Growth hormone deficiency, isolated, 1B Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues. NA Belongs to the somatotropin/prolactin family. Cytokine-cytokine receptor interaction;Neuroactive ligand-receptor interaction;Jak-STAT signaling pathway;Prolactin receptor signaling;Growth hormone receptor signaling;Synthesis, secretion, and deacylation of Ghrelin PE1 17 +NX_P01242 Growth hormone variant 217 25000 7.59 0 Secreted NA Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues. NA Belongs to the somatotropin/prolactin family. Cytokine-cytokine receptor interaction;Neuroactive ligand-receptor interaction;Jak-STAT signaling pathway;Prolactin receptor signaling;Growth hormone receptor signaling PE1 17 +NX_P01258 Calcitonin 141 15467 5.77 0 Secreted NA Katacalcin is a potent plasma calcium-lowering peptide.;Calcitonin causes a rapid but short-lived drop in the level of calcium and phosphate in blood by promoting the incorporation of those ions in the bones. NA Belongs to the calcitonin family. G alpha (s) signalling events;Amyloid fiber formation;Calcitonin-like ligand receptors PE1 11 +NX_P01266 Thyroglobulin 2768 304790 5.4 0 Secreted Thyroid dyshormonogenesis 3;Autoimmune thyroid disease 3 Precursor of the iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3). Sulfated tyrosines are desulfated during iodination. Belongs to the type-B carboxylesterase/lipase family. Autoimmune thyroid disease PE1 8 +NX_P01270 Parathyroid hormone 115 12861 9.72 0 Secreted Hypoparathyroidism, familial isolated PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells. NA Belongs to the parathyroid hormone family. G alpha (s) signalling events;Class B/2 (Secretin family receptors) PE1 11 +NX_P01275 Glucagon 180 20909 5.85 0 Endoplasmic reticulum;Cytoplasmic vesicle;Secreted NA Oxyntomodulin significantly reduces food intake. Inhibits gastric emptying in humans. Suppression of gastric emptying may lead to increased gastric distension, which may contribute to satiety by causing a sensation of fullness.;Glucagon plays a key role in glucose metabolism and homeostasis. Regulates blood glucose by increasing gluconeogenesis and decreasing glycolysis. A counterregulatory hormone of insulin, raises plasma glucose levels in response to insulin-induced hypoglycemia. Plays an important role in initiating and maintaining hyperglycemic conditions in diabetes.;Glicentin may modulate gastric acid secretion and the gastro-pyloro-duodenal activity. May play an important role in intestinal mucosal growth in the early period of life.;GLP-2 stimulates intestinal growth and up-regulates villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. The gastrointestinal tract, from the stomach to the colon is the principal target for GLP-2 action. Plays a key role in nutrient homeostasis, enhancing nutrient assimilation through enhanced gastrointestinal function, as well as increasing nutrient disposal. Stimulates intestinal glucose transport and decreases mucosal permeability.;GLP-1 is a potent stimulator of glucose-dependent insulin release. Play important roles on gastric motility and the suppression of plasma glucagon levels. May be involved in the suppression of satiety and stimulation of glucose disposal in peripheral tissues, independent of the actions of insulin. Have growth-promoting activities on intestinal epithelium. May also regulate the hypothalamic pituitary axis (HPA) via effects on LH, TSH, CRH, oxytocin, and vasopressin secretion. Increases islet mass through stimulation of islet neogenesis and pancreatic beta cell proliferation. Inhibits beta cell apoptosis. Proglucagon is post-translationally processed in a tissue-specific manner in pancreatic A cells and intestinal L cells. In pancreatic A cells, the major bioactive hormone is glucagon cleaved by PCSK2/PC2. In the intestinal L cells PCSK1/PC1 liberates GLP-1, GLP-2, glicentin and oxyntomodulin. GLP-1 is further N-terminally truncated by post-translational processing in the intestinal L cells resulting in GLP-1(7-37) GLP-1-(7-36)amide. The C-terminal amidation is neither important for the metabolism of GLP-1 nor for its effects on the endocrine pancreas. Belongs to the glucagon family. G alpha (q) signalling events;G alpha (s) signalling events;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Glucagon signaling in metabolic regulation;Glucagon-type ligand receptors;Synthesis, secretion, and deacylation of Ghrelin PE1 2 +NX_P01282 VIP peptides 170 19169 6.15 0 Endoplasmic reticulum;Secreted NA VIP causes vasodilation, lowers arterial blood pressure, stimulates myocardial contractility, increases glycogenolysis and relaxes the smooth muscle of trachea, stomach and gall bladder.;PHM and PHV also cause vasodilation. PHM-27 is a potent agonist of the calcitonin receptor CALCR, with similar efficacy as calcitonin. NA Belongs to the glucagon family. G alpha (s) signalling events;Glucagon-type ligand receptors PE1 6 +NX_P01286 Somatoliberin 108 12447 10.54 0 Secreted NA GRF is released by the hypothalamus and acts on the adenohypophyse to stimulate the secretion of growth hormone. NA Belongs to the glucagon family. G alpha (s) signalling events;Glucagon-type ligand receptors PE1 20 +NX_P01298 Pancreatic prohormone 95 10445 6.71 0 Secreted NA The physiological role for the icosapeptide has not yet been elucidated.;Pancreatic hormone is synthesized in pancreatic islets of Langerhans and acts as a regulator of pancreatic and gastrointestinal functions. NA Belongs to the NPY family. G alpha (i) signalling events;Peptide ligand-binding receptors PE1 17 +NX_P01303 Pro-neuropeptide Y 97 10851 6.57 0 Golgi apparatus;Secreted NA NPY is implicated in the control of feeding and in secretion of gonadotrophin-release hormone. The neuropeptide Y form is cleaved at Pro-30 by the prolyl endopeptidase FAP (seprase) activity (in vitro). Belongs to the NPY family. Adipocytokine signaling pathway;G alpha (i) signalling events;Peptide ligand-binding receptors;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 7 +NX_P01308 Insulin 110 11981 5.22 0 Secreted Maturity-onset diabetes of the young 10;Diabetes mellitus, insulin-dependent, 2;Hyperproinsulinemia;Diabetes mellitus, permanent neonatal Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver. NA Belongs to the insulin family. Oocyte meiosis;Regulation of autophagy;mTOR signaling pathway;Regulation of actin cytoskeleton;Insulin signaling pathway;Progesterone-mediated oocyte maturation;Type II diabetes mellitus;Type I diabetes mellitus;Maturity onset diabetes of the young;Aldosterone-regulated sodium reabsorption;Prostate cancer;Insulin processing;Regulation of gene expression in beta cells;Insulin receptor recycling;Amyloid fiber formation;Synthesis, secretion, and deacylation of Ghrelin;IRS activation;Signal attenuation;Insulin receptor signalling cascade;Signaling by Insulin receptor;Regulation of insulin secretion;COPI-mediated anterograde transport;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 11 +NX_P01344 Insulin-like growth factor II 180 20140 9.5 0 Nucleoplasm;Cytosol;Secreted;Cytoplasmic vesicle Growth restriction, severe, with distinctive facies;Silver-Russell syndrome Preptin undergoes glucose-mediated co-secretion with insulin, and acts as physiological amplifier of glucose-mediated insulin secretion. Exhibits osteogenic properties by increasing osteoblast mitogenic activity through phosphoactivation of MAPK1 and MAPK3.;The insulin-like growth factors possess growth-promoting activity. Major fetal growth hormone in mammals. Plays a key role in regulating fetoplacental development. IGF-II is influenced by placental lactogen. Also involved in tissue differentiation. Positively regulates myogenic transcription factor MYOD1 function by facilitating the recruitment of transcriptional coactivators, thereby controlling muscle terminal differentiation (By similarity). In adults, involved in glucose metabolism in adipose tissue, skeletal muscle and liver (Probable). Acts as a ligand for integrin which is required for IGF2 signaling (PubMed:28873464). O-glycosylated with core 1 or possibly core 8 glycans. Thr-96 is a minor glycosylation site compared to Thr-99.;Proteolytically processed by PCSK4, proIGF2 is cleaved at Arg-128 and Arg-92 to generate big-IGF2 and mature IGF2. Belongs to the insulin family. Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);IRS-related events triggered by IGF1R;SHC-related events triggered by IGF1R;Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) PE1 11 +NX_P01350 Gastrin 101 11394 5.08 0 Secreted NA Gastrin stimulates the stomach mucosa to produce and secrete hydrochloric acid and the pancreas to secrete its digestive enzymes. It also stimulates smooth muscle contraction and increases blood circulation and water secretion in the stomach and intestine. Two different processing pathways probably exist in antral G-cells. In the dominant pathway progastrin is cleaved at three sites resulting in two major bioactive gastrins, gastrin-34 and gastrin-17. In the putative alternative pathway, progastrin may be processed only at the most C-terminal dibasic site resulting in the synthesis of gastrin-71.;Sulfation enhances proteolytic processing, and blocks peptide degradation. Levels of sulfation differ between proteolytically-cleaved gastrins. Thus, gastrin-6 is almost 73% sulfated, whereas the larger gastrins are less than 50% sulfated. Sulfation levels are also tissue-specific. Belongs to the gastrin/cholecystokinin family. Gastric acid secretion;G alpha (q) signalling events;Gastrin-CREB signalling pathway via PKC and MAPK PE1 17 +NX_P01374 Lymphotoxin-alpha 205 22297 9.1 0 Membrane;Secreted Psoriatic arthritis Cytokine that in its homotrimeric form binds to TNFRSF1A/TNFR1, TNFRSF1B/TNFBR and TNFRSF14/HVEM (PubMed:9462508). In its heterotrimeric form with LTB binds to TNFRSF3/LTBR. Lymphotoxin is produced by lymphocytes and is cytotoxic for a wide range of tumor cells in vitro and in vivo. NA Belongs to the tumor necrosis factor family. Cytokine-cytokine receptor interaction;Type I diabetes mellitus;HTLV-I infection;Herpes simplex infection;TNFR2 non-canonical NF-kB pathway;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway;TNFs bind their physiological receptors PE1 6 +NX_P01375 Tumor necrosis factor 233 25644 6.44 1 Membrane;Secreted;Cell membrane Psoriatic arthritis The TNF intracellular domain (ICD) form induces IL12 production in dendritic cells.;Cytokine that binds to TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. It is mainly secreted by macrophages and can induce cell death of certain tumor cell lines. It is potent pyrogen causing fever by direct action or by stimulation of interleukin-1 secretion and is implicated in the induction of cachexia, Under certain conditions it can stimulate cell proliferation and induce cell differentiation. Impairs regulatory T-cells (Treg) function in individuals with rheumatoid arthritis via FOXP3 dephosphorylation. Upregulates the expression of protein phosphatase 1 (PP1), which dephosphorylates the key 'Ser-418' residue of FOXP3, thereby inactivating FOXP3 and rendering Treg cells functionally defective (PubMed:23396208). Key mediator of cell death in the anticancer action of BCG-stimulated neutrophils in combination with DIABLO/SMAC mimetic in the RT4v6 bladder cancer cell line (PubMed:22517918, PubMed:16829952, PubMed:23396208). Induces insulin resistance in adipocytes via inhibition of insulin-induced IRS1 tyrosine phosphorylation and insulin-induced glucose uptake. Induces GKAP42 protein degradation in adipocytes which is partially responsible for TNF-induced insulin resistance (By similarity). O-glycosylated; glycans contain galactose, N-acetylgalactosamine and N-acetylneuraminic acid.;The membrane form, but not the soluble form, is phosphorylated on serine residues. Dephosphorylation of the membrane form occurs by binding to soluble TNFRSF1A/TNFR1.;The soluble form derives from the membrane form by proteolytic processing. The membrane-bound form is further proteolytically processed by SPPL2A or SPPL2B through regulated intramembrane proteolysis producing TNF intracellular domains (ICD1 and ICD2) released in the cytosol and TNF C-domain 1 and C-domain 2 secreted into the extracellular space. Belongs to the tumor necrosis factor family. MAPK signaling pathway;Cytokine-cytokine receptor interaction;Apoptosis;TGF-beta signaling pathway;Osteoclast differentiation;Antigen processing and presentation;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Hematopoietic cell lineage;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;Fc epsilon RI signaling pathway;Adipocytokine signaling pathway;Type II diabetes mellitus;Type I diabetes mellitus;Alzheimer's disease;Amyotrophic lateral sclerosis (ALS);Pertussis;Legionellosis;Leishmaniasis;Chagas disease (American trypanosomiasis);African trypanosomiasis;Malaria;Toxoplasmosis;Amoebiasis;Tuberculosis;Hepatitis C;Influenza A;HTLV-I infection;Herpes simplex infection;Asthma;Systemic lupus erythematosus;Rheumatoid arthritis;Allograft rejection;Graft-versus-host disease;Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;TNFR2 non-canonical NF-kB pathway;Transcriptional regulation of white adipocyte differentiation;TNFR1-induced proapoptotic signaling;TNF signaling;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;TNFR1-mediated ceramide production;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling PE1 6 +NX_P01562 Interferon alpha-1/13 189 21725 5.32 0 Secreted NA Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase. NA Belongs to the alpha/beta interferon family. Cytokine-cytokine receptor interaction;Regulation of autophagy;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Tuberculosis;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Autoimmune thyroid disease;Cytokine-cytokine receptor interaction;Regulation of autophagy;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Tuberculosis;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Autoimmune thyroid disease;Factors involved in megakaryocyte development and platelet production;Interferon alpha/beta signaling;Regulation of IFNA signaling;TRAF6 mediated IRF7 activation PE1 9 +NX_P01563 Interferon alpha-2 188 21550 6.32 0 Secreted NA Produced by macrophages, IFN-alpha have antiviral activities. NA Belongs to the alpha/beta interferon family. Cytokine-cytokine receptor interaction;Regulation of autophagy;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Tuberculosis;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Autoimmune thyroid disease;Factors involved in megakaryocyte development and platelet production;Interferon alpha/beta signaling;Regulation of IFNA signaling;TRAF6 mediated IRF7 activation PE1 9 +NX_P01566 Interferon alpha-10 189 21835 5.97 0 Secreted NA Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase. NA Belongs to the alpha/beta interferon family. Cytokine-cytokine receptor interaction;Regulation of autophagy;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Tuberculosis;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Autoimmune thyroid disease;Factors involved in megakaryocyte development and platelet production;Interferon alpha/beta signaling;Regulation of IFNA signaling;TRAF6 mediated IRF7 activation PE1 9 +NX_P01567 Interferon alpha-7 189 22107 6.44 0 Secreted NA Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase. NA Belongs to the alpha/beta interferon family. Cytokine-cytokine receptor interaction;Regulation of autophagy;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Tuberculosis;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Autoimmune thyroid disease;Factors involved in megakaryocyte development and platelet production;Interferon alpha/beta signaling;Regulation of IFNA signaling;TRAF6 mediated IRF7 activation PE1 9 +NX_P01568 Interferon alpha-21 189 21741 6.33 0 Secreted NA Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase. NA Belongs to the alpha/beta interferon family. Cytokine-cytokine receptor interaction;Regulation of autophagy;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Tuberculosis;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Autoimmune thyroid disease;Factors involved in megakaryocyte development and platelet production;Interferon alpha/beta signaling;Regulation of IFNA signaling;TRAF6 mediated IRF7 activation PE1 9 +NX_P01569 Interferon alpha-5 189 21942 5.68 0 Secreted NA Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase. NA Belongs to the alpha/beta interferon family. Cytokine-cytokine receptor interaction;Regulation of autophagy;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Tuberculosis;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Autoimmune thyroid disease;Factors involved in megakaryocyte development and platelet production;Interferon alpha/beta signaling;Regulation of IFNA signaling;TRAF6 mediated IRF7 activation PE1 9 +NX_P01570 Interferon alpha-14 189 22063 6.83 0 Secreted NA Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase. NA Belongs to the alpha/beta interferon family. Cytokine-cytokine receptor interaction;Regulation of autophagy;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Tuberculosis;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Autoimmune thyroid disease;Factors involved in megakaryocyte development and platelet production;Interferon alpha/beta signaling;Regulation of IFNA signaling;TRAF6 mediated IRF7 activation PE1 9 +NX_P01571 Interferon alpha-17 189 21728 5.68 0 Secreted NA Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase. NA Belongs to the alpha/beta interferon family. Cytokine-cytokine receptor interaction;Regulation of autophagy;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Tuberculosis;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Autoimmune thyroid disease;Factors involved in megakaryocyte development and platelet production;Interferon alpha/beta signaling;Regulation of IFNA signaling;TRAF6 mediated IRF7 activation PE1 9 +NX_P01574 Interferon beta 187 22294 8.93 0 Secreted NA Has antiviral, antibacterial and anticancer activities. NA Belongs to the alpha/beta interferon family. Cytokine-cytokine receptor interaction;Osteoclast differentiation;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Chagas disease (American trypanosomiasis);Tuberculosis;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Factors involved in megakaryocyte development and platelet production;Interferon alpha/beta signaling;Oxidative Stress Induced Senescence;Regulation of IFNA signaling;TRAF6 mediated IRF7 activation;TRAF3-dependent IRF activation pathway PE1 9 +NX_P01579 Interferon gamma 166 19348 9.5 0 Secreted Aplastic anemia Produced by lymphocytes activated by specific antigens or mitogens. IFN-gamma, in addition to having antiviral activity, has important immunoregulatory functions. It is a potent activator of macrophages, it has antiproliferative effects on transformed cells and it can potentiate the antiviral and antitumor effects of the type I interferons. Proteolytic processing produces C-terminal heterogeneity, with proteins ending alternatively at Gly-150, Met-157 or Gly-161. Belongs to the type II (or gamma) interferon family. Proteasome;Cytokine-cytokine receptor interaction;Regulation of autophagy;TGF-beta signaling pathway;Osteoclast differentiation;Antigen processing and presentation;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;Type I diabetes mellitus;Salmonella infection;Leishmaniasis;Chagas disease (American trypanosomiasis);African trypanosomiasis;Malaria;Toxoplasmosis;Amoebiasis;Tuberculosis;Measles;Influenza A;Interferon gamma signaling;Regulation of IFNG signaling;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation;RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) PE1 12 +NX_P01583 Interleukin-1 alpha 271 30607 5.04 0 Secreted NA Produced by activated macrophages, IL-1 stimulates thymocyte proliferation by inducing IL-2 release, B-cell maturation and proliferation, and fibroblast growth factor activity. IL-1 proteins are involved in the inflammatory response, being identified as endogenous pyrogens, and are reported to stimulate the release of prostaglandin and collagenase from synovial cells. NA Belongs to the IL-1 family. MAPK signaling pathway;Cytokine-cytokine receptor interaction;Apoptosis;Osteoclast differentiation;Hematopoietic cell lineage;Type I diabetes mellitus;Prion diseases;Salmonella infection;Pertussis;Leishmaniasis;Tuberculosis;Measles;Influenza A;Rheumatoid arthritis;Graft-versus-host disease;Senescence-Associated Secretory Phenotype (SASP);Interleukin-1 processing;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling;Interleukin-1 signaling PE1 2 +NX_P01584 Interleukin-1 beta 269 30748 4.7 0 Extracellular exosome;Cytosol;Secreted;Lysosome NA Potent proinflammatory cytokine. Initially discovered as the major endogenous pyrogen, induces prostaglandin synthesis, neutrophil influx and activation, T-cell activation and cytokine production, B-cell activation and antibody production, and fibroblast proliferation and collagen production. Promotes Th17 differentiation of T-cells. Synergizes with IL12/interleukin-12 to induce IFNG synthesis from T-helper 1 (Th1) cells (PubMed:10653850). Activation of the IL1B precursor involves a CASP1-catalyzed proteolytic cleavage. Processing and secretion are temporarily associated. Belongs to the IL-1 family. MAPK signaling pathway;Cytokine-cytokine receptor interaction;Apoptosis;Osteoclast differentiation;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Hematopoietic cell lineage;Type I diabetes mellitus;Alzheimer's disease;Prion diseases;Salmonella infection;Pertussis;Legionellosis;Leishmaniasis;Chagas disease (American trypanosomiasis);African trypanosomiasis;Malaria;Amoebiasis;Tuberculosis;CLEC7A/inflammasome pathway;Interleukin-1 processing;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling;Interleukin-1 signaling PE1 2 +NX_P01588 Erythropoietin 193 21307 8.3 0 Secreted Diamond-Blackfan anemia-like;Microvascular complications of diabetes 2;Erythrocytosis, familial, 5 Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass. Binds to EPOR leading to EPOR dimerization and JAK2 activation thereby activating specific downstream effectors, including STAT1 and STAT3. NA Belongs to the EPO/TPO family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Hematopoietic cell lineage;Regulation of gene expression by Hypoxia-inducible Factor;Erythropoietin activates RAS;Erythropoietin activates Phosphoinositide-3-kinase (PI3K);Signaling by Erythropoietin;Erythropoietin activates Phospholipase C gamma (PLCG);Erythropoietin activates STAT5 PE1 7 +NX_P01589 Interleukin-2 receptor subunit alpha 272 30819 6.11 1 Membrane Immunodeficiency 41 with lymphoproliferation and autoimmunity;Diabetes mellitus, insulin-dependent, 10 Receptor for interleukin-2. The receptor is involved in the regulation of immune tolerance by controlling regulatory T cells (TREGs) activity. TREGs suppress the activation and expansion of autoreactive T-cells. NA NA Cytokine-cytokine receptor interaction;Endocytosis;Jak-STAT signaling pathway;Hematopoietic cell lineage;Measles;HTLV-I infection;RAF/MAP kinase cascade;Interleukin receptor SHC signaling;RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs);Interleukin-2 signaling PE1 10 +NX_P01591 Immunoglobulin J chain 159 18099 5.12 0 Secreted NA Serves to link two monomer units of either IgM or IgA. In the case of IgM, the J chain-joined dimer is a nucleating unit for the IgM pentamer, and in the case of IgA it induces larger polymers. It also help to bind these immunoglobulins to secretory component. NA NA Cell surface interactions at the vascular wall;Scavenging of heme from plasma PE1 4 +NX_P01593 Immunoglobulin kappa variable 1D-33 117 12848 4.53 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P01594 Immunoglobulin kappa variable 1-33 117 12848 4.53 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P01597 Immunoglobulin kappa variable 1-39 117 12737 8.91 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P01599 Immunoglobulin kappa variable 1-17 117 12779 8.93 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P01601 Immunoglobulin kappa variable 1D-16 117 12730 7.62 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P01602 Immunoglobulin kappa variable 1-5 117 12782 8.49 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P01611 Immunoglobulin kappa variable 1D-12 117 12620 7.69 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P01614 Immunoglobulin kappa variable 2D-40 121 13310 4.43 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P01615 Immunoglobulin kappa variable 2D-28 120 12957 5.61 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P01619 Immunoglobulin kappa variable 3-20 116 12557 4.85 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P01624 Immunoglobulin kappa variable 3-15 115 12496 5.14 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P01699 Immunoglobulin lambda variable 1-44 117 12201 4.94 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P01700 Immunoglobulin lambda variable 1-47 117 12284 5.55 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P01701 Immunoglobulin lambda variable 1-51 117 12249 6.5 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P01703 Immunoglobulin lambda variable 1-40 118 12302 5.39 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P01704 Immunoglobulin lambda variable 2-14 120 12597 6 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P01705 Immunoglobulin lambda variable 2-23 113 11893 5.59 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P01706 Immunoglobulin lambda variable 2-11 119 12644 6.69 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P01709 Immunoglobulin lambda variable 2-8 118 12382 5.59 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P01714 Immunoglobulin lambda variable 3-19 112 12042 4.76 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P01715 Immunoglobulin lambda variable 3-1 115 12296 4.75 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P01717 Immunoglobulin lambda variable 3-25 112 12011 4.37 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P01718 Immunoglobulin lambda variable 3-27 113 12165 4.89 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P01721 Immunoglobulin lambda variable 6-57 117 12566 4.59 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P01730 T-cell surface glycoprotein CD4 458 51111 9.6 1 Cell membrane NA (Microbial infection) Primary receptor for human immunodeficiency virus-1 (HIV-1) (PubMed:2214026, PubMed:16331979, PubMed:9641677, PubMed:12089508). Down-regulated by HIV-1 Vpu (PubMed:17346169). Acts as a receptor for Human Herpes virus 7/HHV-7 (PubMed:7909607).;Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class II molecule:peptide complex. The antigens presented by class II peptides are derived from extracellular proteins while class I peptides are derived from cytosolic proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class II presented by antigen presenting cells (APCs). In turn, recruits the Src kinase LCK to the vicinity of the TCR-CD3 complex. LCK then initiates different intracellular signaling pathways by phosphorylating various substrates ultimately leading to lymphokine production, motility, adhesion and activation of T-helper cells. In other cells such as macrophages or NK cells, plays a role in differentiation/activation, cytokine expression and cell migration in a TCR/LCK-independent pathway. Participates in the development of T-helper cells in the thymus and triggers the differentiation of monocytes into functional mature macrophages. Palmitoylation and association with LCK contribute to the enrichment of CD4 in lipid rafts.;Phosphorylated by PKC; phosphorylation at Ser-433 plays an important role for CD4 internalization. NA Cell adhesion molecules (CAMs);Antigen processing and presentation;Hematopoietic cell lineage;T cell receptor signaling pathway;Primary immunodeficiency;Vpu mediated degradation of CD4;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling;Alpha-defensins;Nef Mediated CD4 Down-regulation;Binding and entry of HIV virion;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Other interleukin signaling PE1 12 +NX_P01732 T-cell surface glycoprotein CD8 alpha chain 235 25729 9.64 1 Secreted;Cell membrane CD8 deficiency, familial Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class I molecule:peptide complex. The antigens presented by class I peptides are derived from cytosolic proteins while class II derived from extracellular proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class I proteins presented by antigen presenting cells (APCs). In turn, recruits the Src kinase LCK to the vicinity of the TCR-CD3 complex. LCK then initiates different intracellular signaling pathways by phosphorylating various substrates ultimately leading to lymphokine production, motility, adhesion and activation of cytotoxic T-lymphocytes (CTLs). This mechanism enables CTLs to recognize and eliminate infected cells and tumor cells. In NK-cells, the presence of CD8A homodimers at the cell surface provides a survival mechanism allowing conjugation and lysis of multiple target cells. CD8A homodimer molecules also promote the survival and differentiation of activated lymphocytes into memory CD8 T-cells. Phosphorylated in cytotoxic T-lymphocytes (CTLs) following activation.;Palmitoylated, but association with CD8B seems to be more important for the enrichment of CD8A in lipid rafts.;O-glycosylated. NA Cell adhesion molecules (CAMs);Antigen processing and presentation;Hematopoietic cell lineage;T cell receptor signaling pathway;Primary immunodeficiency;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 2 +NX_P01733 T cell receptor beta variable 12-3 115 12997 5.84 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 7 +NX_P01737 T cell receptor alpha variable 8-4 113 12377 6.81 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE2 14 +NX_P01742 Immunoglobulin heavy variable 1-69 117 12659 9.26 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 14 +NX_P01743 Immunoglobulin heavy variable 1-46 117 12933 9.1 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 14 +NX_P01762 Immunoglobulin heavy variable 3-11 117 12909 8.82 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 14 +NX_P01763 Immunoglobulin heavy variable 3-48 117 12813 5.31 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). The N-terminus is blocked. NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 14 +NX_P01764 Immunoglobulin heavy variable 3-23 117 12582 8.49 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 14 +NX_P01766 Immunoglobulin heavy variable 3-13 116 12506 6.54 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 14 +NX_P01767 Immunoglobulin heavy variable 3-53 116 12770 8.49 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 14 +NX_P01768 Immunoglobulin heavy variable 3-30 117 12947 9.1 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 14 +NX_P01772 Immunoglobulin heavy variable 3-33 117 13074 9.12 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 14 +NX_P01780 Immunoglobulin heavy variable 3-7 117 12943 6.21 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 14 +NX_P01782 Immunoglobulin heavy variable 3-9 118 12945 6.55 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 14 +NX_P01814 Immunoglobulin heavy variable 2-70 119 13260 6.1 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 14 +NX_P01817 Immunoglobulin heavy variable 2-5 119 13231 8.49 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 14 +NX_P01824 Immunoglobulin heavy variable 4-39 125 13917 9.35 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 14 +NX_P01825 Immunoglobulin heavy variable 4-59 116 12936 9.36 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 14 +NX_P01833 Polymeric immunoglobulin receptor 764 83284 5.59 1 Secreted;Cell membrane NA This receptor binds polymeric IgA and IgM at the basolateral surface of epithelial cells. The complex is then transported across the cell to be secreted at the apical surface. During this process a cleavage occurs that separates the extracellular (known as the secretory component) from the transmembrane segment. N-glycosylation is not necessary for Ig binding. NA Intestinal immune network for IgA production;Neutrophil degranulation PE1 1 +NX_P01834 Immunoglobulin kappa constant 107 11765 6.11 0 Secreted;Cell membrane Immunoglobulin kappa light chain deficiency Constant region of immunoglobulin light chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P01848 T cell receptor alpha constant 140 15717 4.58 1 Cell membrane Immunodeficiency 7 Constant region of T cell receptor (TR) alpha chain (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn, ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 14 +NX_P01850 T cell receptor beta constant 1 176 19769 5.8 1 Cell membrane NA Constant region of T cell receptor (TR) alpha chain (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn, ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:9382891, PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 7 +NX_P01854 Immunoglobulin heavy constant epsilon 428 47019 8.39 0 Secreted;Cell membrane NA Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Fc epsilon receptor (FCERI) signaling;Interleukin-4 and Interleukin-13 signaling PE1 14 +NX_P01857 Immunoglobulin heavy constant gamma 1 330 36106 8.46 0 Secreted;Cell membrane Multiple myeloma Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA Regulation of actin dynamics for phagocytic cup formation;Regulation of Complement cascade;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Interleukin-4 and Interleukin-13 signaling PE1 14 +NX_P01859 Immunoglobulin heavy constant gamma 2 326 35901 7.66 0 Secreted;Cell membrane NA Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA Regulation of actin dynamics for phagocytic cup formation;Regulation of Complement cascade;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation PE1 14 +NX_P01860 Immunoglobulin heavy constant gamma 3 377 41287 8.23 0 Secreted;Cell membrane NA Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). N-linked glycans at Asn-227 are diantennary core fucosylated structures without bisecting GlcNAc (HexNAc4Hex4Fuc1, HexNAc4Hex5Fuc1, and HexNAc4Hex5Fuc1Sia1).;O-linked glycans are non-, mono- and disialylated core 1-type O-glycans.;N-linked glycans at Asn-322 are noncore fucosylated and the vast majority are diantennary species with a bisecting GlcNAc. Among them the most dominant glycans are HexNAc5Hex4, HexNAc5Hex5, and HexNAc5Hex5Sia1. NA Regulation of actin dynamics for phagocytic cup formation;Regulation of Complement cascade;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation PE1 14 +NX_P01861 Immunoglobulin heavy constant gamma 4 327 35941 7.18 0 Secreted;Cell membrane NA Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA Regulation of actin dynamics for phagocytic cup formation;Regulation of Complement cascade;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Interleukin-4 and Interleukin-13 signaling PE1 14 +NX_P01871 Immunoglobulin heavy constant mu 453 49440 6.35 0 Secreted;Cell membrane Agammaglobulinemia 1, autosomal recessive Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). IgM antibodies play an important role in primary defense mechanisms. They have been shown to be involved in early recognition of external invaders like bacteria and viruses, cellular waste and modified self, as well as in recognition and elimination of precancerous and cancerous lesions. The membrane-bound form is found in the majority of normal B-cells alongside with IgD. Membrane-bound IgM induces the phosphorylation of CD79A and CD79B by the Src family of protein tyrosine kinases. It may cause death of cells by apoptosis. It is also found in soluble form, which represents about 30% of the total serum immunoglobulins where it is found almost exclusively as a homopentamer. After the antigen binds to the B-cell receptor, the secreted form is secreted in large amounts (PubMed:3137579, PubMed:16895553). NA NA Cell surface interactions at the vascular wall;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;CD22 mediated BCR regulation PE1 14 +NX_P01876 Immunoglobulin heavy constant alpha 1 353 37655 6.08 0 Secreted;Cell membrane NA Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). Ig alpha is the major immunoglobulin class in body secretions (PubMed:2241915). 3-Hydroxykynurenine, an oxidized tryptophan metabolite that is common in biological fluids, reacts with alpha-1-microglobulin to form heterogeneous polycyclic chromophores including hydroxanthommatin. The chromophore reacts with accessible cysteines forming non-reducible thioether cross-links with Ig alpha-1 chain C region Cys-352.;N- and O-glycosylated. N-glycan at Asn-144: Hex5HexNAc4. NA Cell surface interactions at the vascular wall;Scavenging of heme from plasma PE1 14 +NX_P01877 Immunoglobulin heavy constant alpha 2 340 36591 5.86 0 Secreted;Cell membrane NA Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). Ig alpha is the major immunoglobulin class in body secretions (PubMed:2241915). NA NA Cell surface interactions at the vascular wall;Scavenging of heme from plasma PE1 14 +NX_P01880 Immunoglobulin heavy constant delta 384 42353 8.38 0 Secreted;Cell membrane NA Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). IgD is the major antigen receptor isotype on the surface of most peripheral B-cells, where it is coexpressed with IgM. The membrane-bound IgD (mIgD) induces the phosphorylation of CD79A and CD79B by the Src family of protein tyrosine kinases. Soluble IgD (sIgD) concentration in serum below those of IgG, IgA, and IgM but much higher than that of IgE. IgM and IgD molecules present on B cells have identical V regions and antigen-binding sites. After the antigen binds to the B-cell receptor, the secreted form sIgD is shut off. IgD is a potent inducer of TNF, IL1B, and IL1RN. IgD also induces release of IL6, IL10, and LIF from peripheral blood mononuclear cells. Monocytes seem to be the main producers of cytokines in vitro in the presence of IgD (PubMed:8774350, PubMed:10702483, PubMed:11282392). NA NA Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;CD22 mediated BCR regulation PE1 14 +NX_P01889 HLA class I histocompatibility antigen, B alpha chain 362 40460 5.57 1 Endoplasmic reticulum membrane;Cell membrane Stevens-Johnson syndrome;Spondyloarthropathy 1 Allele B*07:02: Presents a long peptide (APRGPHGGAASGL) derived from the cancer-testis antigen CTAG1A/NY-ESO-1, eliciting a polyclonal CD8-positive T cell response against tumor cells.;Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumor-derived peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-A-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected or transformed cells (PubMed:25808313, PubMed:29531227). May also present self-peptides derived from the signal sequence of secreted or membrane proteins, although T cells specific for these peptides are usually inactivated to prevent autoreactivity. Both the peptide and the MHC molecule are recognized by TCR, the peptide is responsible for the fine specificity of antigen recognition and MHC residues account for the MHC restriction of T cells (PubMed:29531227). Typically presents intracellular peptide antigens of 8 to 13 amino acids that arise from cytosolic proteolysis via constitutive proteasome and IFNG-induced immunoproteasome. Can bind different peptides containing allele-specific binding motifs, which are mainly defined by anchor residues at position 2 and 9 (PubMed:25808313, PubMed:29531227). HLA-B is phosphorylated by PRKACA NA Endocytosis;Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Natural killer cell mediated cytotoxicity;Type I diabetes mellitus;HTLV-I infection;Herpes simplex infection;Autoimmune thyroid disease;Allograft rejection;Graft-versus-host disease;Viral myocarditis PE1 6 +NX_P01893 Putative HLA class I histocompatibility antigen, alpha chain H 362 40892 5.91 1 Cell membrane NA Involved in the presentation of foreign antigens to the immune system. NA Belongs to the MHC class I family. ER-Phagosome pathway;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Endosomal/Vacuolar pathway;Interferon gamma signaling;Interferon alpha/beta signaling;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;Neutrophil degranulation PE5 6 +NX_P01903 HLA class II histocompatibility antigen, DR alpha chain 254 28607 4.91 1 Endoplasmic reticulum membrane;Cell membrane;Endosome membrane;Lysosome membrane;trans-Golgi network membrane;Late endosome membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. Ubiquitinated by MARCH1 or MARCH8 at Lys-244 leading to down-regulation of MHC class II. When associated with ubiquitination of the beta subunit of HLA-DR: HLA-DRB4 'Lys-254', the down-regulation of MHC class II may be highly effective. Belongs to the MHC class II family. Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Hematopoietic cell lineage;Intestinal immune network for IgA production;Type I diabetes mellitus;Leishmaniasis;Toxoplasmosis;Staphylococcus aureus infection;Tuberculosis;Influenza A;HTLV-I infection;Herpes simplex infection;Asthma;Autoimmune thyroid disease;Systemic lupus erythematosus;Rheumatoid arthritis;Allograft rejection;Graft-versus-host disease;Viral myocarditis;MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_P01906 HLA class II histocompatibility antigen, DQ alpha 2 chain 255 28033 4.78 1 Endoplasmic reticulum membrane;Endosome membrane;Cell membrane;Lysosome membrane;trans-Golgi network membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. NA Belongs to the MHC class II family. Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Intestinal immune network for IgA production;Type I diabetes mellitus;Leishmaniasis;Toxoplasmosis;Staphylococcus aureus infection;Tuberculosis;Influenza A;HTLV-I infection;Herpes simplex infection;Asthma;Autoimmune thyroid disease;Systemic lupus erythematosus;Rheumatoid arthritis;Allograft rejection;Graft-versus-host disease;Viral myocarditis;MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_P01909 HLA class II histocompatibility antigen, DQ alpha 1 chain 254 27805 5.44 1 Endoplasmic reticulum membrane;Endosome membrane;Cell membrane;Lysosome membrane;trans-Golgi network membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. NA Belongs to the MHC class II family. Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Intestinal immune network for IgA production;Type I diabetes mellitus;Leishmaniasis;Toxoplasmosis;Staphylococcus aureus infection;Tuberculosis;Influenza A;HTLV-I infection;Herpes simplex infection;Asthma;Autoimmune thyroid disease;Systemic lupus erythematosus;Rheumatoid arthritis;Allograft rejection;Graft-versus-host disease;Viral myocarditis;MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_P01911 HLA class II histocompatibility antigen, DRB1-15 beta chain 266 29966 7.64 1 Endoplasmic reticulum membrane;Cell membrane;Endosome membrane;trans-Golgi network membrane;Lysosome membrane;Late endosome membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II. Belongs to the MHC class II family. Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Hematopoietic cell lineage;Intestinal immune network for IgA production;Type I diabetes mellitus;Leishmaniasis;Toxoplasmosis;Staphylococcus aureus infection;Tuberculosis;Influenza A;HTLV-I infection;Herpes simplex infection;Asthma;Autoimmune thyroid disease;Systemic lupus erythematosus;Rheumatoid arthritis;Allograft rejection;Graft-versus-host disease;Viral myocarditis;MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_P01912 HLA class II histocompatibility antigen, DRB1-3 chain 266 30120 8.21 1 Endoplasmic reticulum membrane;Endosome membrane;Cell membrane;trans-Golgi network membrane;Lysosome membrane;Late endosome membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route; where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and efficient peptide loading. Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II. Belongs to the MHC class II family. MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_P01920 HLA class II histocompatibility antigen, DQ beta 1 chain 261 29991 6.76 1 Cytoplasm;Golgi apparatus;Endoplasmic reticulum membrane;Endosome membrane;Cell membrane;trans-Golgi network membrane;Lysosome membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. NA Belongs to the MHC class II family. Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Intestinal immune network for IgA production;Type I diabetes mellitus;Leishmaniasis;Toxoplasmosis;Staphylococcus aureus infection;Tuberculosis;Influenza A;HTLV-I infection;Herpes simplex infection;Asthma;Autoimmune thyroid disease;Systemic lupus erythematosus;Rheumatoid arthritis;Allograft rejection;Graft-versus-host disease;Viral myocarditis;MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_P02008 Hemoglobin subunit zeta 142 15637 7.94 0 Nucleoplasm;Cytosol NA The zeta chain is an alpha-type chain of mammalian embryonic hemoglobin. NA Belongs to the globin family. NA PE1 16 +NX_P02042 Hemoglobin subunit delta 147 16055 7.84 0 NA NA Involved in oxygen transport from the lung to the various peripheral tissues. NA Belongs to the globin family. African trypanosomiasis;Malaria;Factors involved in megakaryocyte development and platelet production PE1 11 +NX_P02100 Hemoglobin subunit epsilon 147 16203 8.67 0 NA NA The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin. NA Belongs to the globin family. Factors involved in megakaryocyte development and platelet production PE1 11 +NX_P02144 Myoglobin 154 17184 7.14 0 NA NA Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles. NA Belongs to the globin family. Intracellular oxygen transport PE1 22 +NX_P02452 Collagen alpha-1(I) chain 1464 138941 5.6 0 Cytoplasmic vesicle;Cytosol;Extracellular matrix Caffey disease;Ehlers-Danlos syndrome, arthrochalasia type, 1;Osteogenesis imperfecta 3;Osteogenesis imperfecta 4;Osteoporosis;Osteogenesis imperfecta 1;Ehlers-Danlos syndrome, classic type, 1;Osteogenesis imperfecta 2 Type I collagen is a member of group I collagen (fibrillar forming collagen). Lysine residues at the third position of the tripeptide repeating unit (G-X-Y) are 5-hydroxylated in some or all of the chains.;O-glycosylated on hydroxylated lysine residues. The O-linked glycan consists of a Glc-Gal disaccharide.;Contains 3-hydroxyproline at a few sites. This modification occurs on the first proline residue in the sequence motif Gly-Pro-Hyp, where Hyp is 4-hydroxyproline.;Contains mostly 4-hydroxyproline. Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Belongs to the fibrillar collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Amoebiasis;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;GPVI-mediated activation cascade;Collagen degradation;Collagen biosynthesis and modifying enzymes;Syndecan interactions;Integrin cell surface interactions;Cell surface interactions at the vascular wall;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Scavenging by Class A Receptors;Non-integrin membrane-ECM interactions;Platelet Adhesion to exposed collagen;Crosslinking of collagen fibrils;Anchoring fibril formation;GP1b-IX-V activation signalling;Platelet Aggregation (Plug Formation);Extracellular matrix organization;MET activates PTK2 signaling;Collagen chain trimerization;RUNX2 regulates osteoblast differentiation PE1 17 +NX_P02458 Collagen alpha-1(II) chain 1487 141785 6.58 0 Nucleoplasm;Extracellular matrix Osteoarthritis with mild chondrodysplasia;Platyspondylic lethal skeletal dysplasia Torrance type;Spondyloepiphyseal dysplasia congenital type;Stickler syndrome 1 non-syndromic ocular;Spondyloepiphyseal dysplasia, Stanescu type;Stickler syndrome 1;Czech dysplasia;Rhegmatogenous retinal detachment autosomal dominant;Spondyloperipheral dysplasia;Spondyloepimetaphyseal dysplasia, Strudwick type;Multiple epiphyseal dysplasia with myopia and conductive deafness;Legg-Calve-Perthes disease;Kniest dysplasia;Achondrogenesis 2;Avascular necrosis of femoral head, primary, 1 Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces. Contains mostly 4-hydroxyproline. Prolines at the third position of the tripeptide repeating unit (G-X-P) are 4-hydroxylated in some or all of the chains.;Lysine residues at the third position of the tripeptide repeating unit (G-X-Y) are 5-hydroxylated in some or all of the chains.;The N-telopeptide is covalently linked to the helical COL2 region of alpha 1(IX), alpha 2(IX) and alpha 3(IX) chain. The C-telopeptide is covalently linked to an another site in the helical region of alpha 3(IX) COL2.;Contains 3-hydroxyproline at a few sites. This modification occurs on the first proline residue in the sequence motif Gly-Pro-Hyp, where Hyp is 4-hydroxyproline.;O-glycosylated on hydroxylated lysine residues. The O-linked glycan consists of a Glc-Gal disaccharide. Belongs to the fibrillar collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Amoebiasis;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Non-integrin membrane-ECM interactions;Extracellular matrix organization;MET activates PTK2 signaling;Collagen chain trimerization PE1 12 +NX_P02461 Collagen alpha-1(III) chain 1466 138564 6.21 0 Endoplasmic reticulum;Extracellular matrix Ehlers-Danlos syndrome, vascular type;Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12. O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.;Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Belongs to the fibrillar collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Amoebiasis;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Syndecan interactions;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Scavenging by Class A Receptors;Non-integrin membrane-ECM interactions;Extracellular matrix organization;MET activates PTK2 signaling;Collagen chain trimerization PE1 2 +NX_P02462 Collagen alpha-1(IV) chain 1669 160611 8.55 0 Basement membrane Schizencephaly;Intracerebral hemorrhage;Hereditary angiopathy with nephropathy aneurysms and muscle cramps;Brain small vessel disease 1 with or without ocular anomalies;Tortuosity of retinal arteries Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.;Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation. Inhibits expression of hypoxia-inducible factor 1alpha and ERK1/2 and p38 MAPK activation. Ligand for alpha1/beta1 integrin. Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding (PubMed:2844531). 12 of these, located in the NC1 domain, are conserved in all known type IV collagens.;Contains 3-hydroxyproline. This modification occurs on the first proline residue in the sequence motif Gly-Pro-Hyp, where Hyp is 4-hydroxyproline.;Lysines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated. The modified lysines can be O-glycosylated.;Proteolytic processing produces the C-terminal NC1 peptide, arresten.;The trimeric structure of the NC1 domains is stabilized by covalent bonds (sulfilimine cross-links) between Lys and Met residues (PubMed:12011424). These cross-links are important for the mechanical stability of the basement membrane (By similarity).;Contains 4-hydroxyproline (Probable). Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains (By similarity). Belongs to the type IV collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Amoebiasis;Pathways in cancer;Small cell lung cancer;Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Scavenging by Class A Receptors;Non-integrin membrane-ECM interactions;Laminin interactions;Crosslinking of collagen fibrils;Anchoring fibril formation;Extracellular matrix organization;Collagen chain trimerization PE1 13 +NX_P02489 Alpha-crystallin A chain 173 19909 5.77 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol Cataract 9, multiple types Contributes to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. Phosphorylation on Ser-122 seems to be developmentally regulated. Absent in the first months of life, it appears during the first 12 years of human lifetime. The relative amount of phosphorylated form versus unphosphorylated form does not change over the lifetime of the individual.;O-glycosylated; contains N-acetylglucosamine side chains.;Deamidation of Asn-101 in lens occurs mostly during the first 30 years of age, followed by a small additional amount of deamidation (approximately 5%) during the next approximately 38 years, resulting in a maximum of approximately 50% deamidation during the lifetime of the individual.;Undergoes age-dependent proteolytical cleavage at the C-terminus. Alpha-crystallin A(1-172) is the most predominant form produced most rapidly during the first 12 years of age and after this age is present in approximately 50% of the lens molecules.;Acetylation at Lys-70 seems to increase chaperone activity. Belongs to the small heat shock protein (HSP20) family. Protein processing in endoplasmic reticulum PE1 21 +NX_P02511 Alpha-crystallin B chain 175 20159 6.76 0 Cytoplasm;Cytosol;Nucleus;Cell membrane Myopathy, myofibrillar, 2;Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related;Cardiomyopathy, dilated 1II;Cataract 16, multiple types May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. NA Belongs to the small heat shock protein (HSP20) family. Protein processing in endoplasmic reticulum;HSF1-dependent transactivation PE1 11 +NX_P02533 Keratin, type I cytoskeletal 14 472 51561 5.09 0 Cytoplasm;Nucleus Epidermolysis bullosa simplex, Weber-Cockayne type;Naegeli-Franceschetti-Jadassohn syndrome;Dermatopathia pigmentosa reticularis;Epidermolysis bullosa simplex, autosomal recessive 1;Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, Dowling-Meara type The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro. Ubiquitinated by the BCR(KLHL24) E3 ubiquitin ligase complex.;A disulfide bond is formed between rather than within filaments and promotes the formation of a keratin filament cage around the nucleus. Belongs to the intermediate filament family. Type I hemidesmosome assembly;Formation of the cornified envelope;Keratinization PE1 17 +NX_P02538 Keratin, type II cytoskeletal 6A 564 60045 8.09 0 NA Pachyonychia congenita 3 Epidermis-specific type I keratin involved in wound healing. Involved in the activation of follicular keratinocytes after wounding, while it does not play a major role in keratinocyte proliferation or migration. Participates in the regulation of epithelial migration by inhibiting the activity of SRC during wound repair. NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_P02545 Prelamin-A/C 664 74139 6.57 0 Nucleus speckle;Nucleoplasm;Nucleus lamina;Nucleus envelope;Cytosol;Nucleus Emery-Dreifuss muscular dystrophy 3, autosomal recessive;Lethal tight skin contracture syndrome;Charcot-Marie-Tooth disease 2B1;Lipodystrophy, familial partial, 2;Cardiomyopathy, dilated, with hypergonadotropic hypogonadism;Muscular dystrophy congenital LMNA-related;Heart-hand syndrome Slovenian type;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Hutchinson-Gilford progeria syndrome;Cardiomyopathy, dilated 1A;Mandibuloacral dysplasia with type A lipodystrophy Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence.;Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation (PubMed:10080180, PubMed:22431096, PubMed:10814726, PubMed:11799477, PubMed:18551513). Required for osteoblastogenesis and bone formation (PubMed:12075506, PubMed:15317753, PubMed:18611980). Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone (PubMed:10587585). Required for cardiac homeostasis (PubMed:10580070, PubMed:12927431, PubMed:18611980, PubMed:23666920). Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations.;Farnesylation of prelamin-A/C facilitates nuclear envelope targeting.;Proteolytic cleavage of the C-terminal of 18 residues of prelamin-A/C results in the production of lamin-A/C. The prelamin-A/C maturation pathway includes farnesylation of CAAX motif, ZMPSTE24/FACE1 mediated cleavage of the last three amino acids, methylation of the C-terminal cysteine and endoproteolytic removal of the last 15 C-terminal amino acids. Proteolytic cleavage requires prior farnesylation and methylation, and absence of these blocks cleavage.;Sumoylation is necessary for the localization to the nuclear envelope. Belongs to the intermediate filament family. Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;XBP1(S) activates chaperone genes;Meiotic synapsis;Initiation of Nuclear Envelope Reformation;Depolymerisation of the Nuclear Lamina;Breakdown of the nuclear lamina;Signaling by BRAF and RAF fusions;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models;Nuclear Envelope Breakdown PE1 1 +NX_P02549 Spectrin alpha chain, erythrocytic 1 2419 280014 4.95 0 Cell cortex;Cytoskeleton Hereditary pyropoikilocytosis;Elliptocytosis 2;Spherocytosis 3 Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane. NA Belongs to the spectrin family. RAF/MAP kinase cascade;Interaction between L1 and Ankyrins;NCAM signaling for neurite out-growth;COPI-mediated anterograde transport PE1 1 +NX_P02585 Troponin C, skeletal muscle 160 18122 4.06 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle NA Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments. NA Belongs to the troponin C family. Calcium signaling pathway;Striated Muscle Contraction PE1 20 +NX_P02647 Apolipoprotein A-I 267 30778 5.56 0 Cytoplasmic vesicle;Cytosol;Secreted High density lipoprotein deficiency 2;Amyloidosis 8;High density lipoprotein deficiency 1 Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility. Phosphorylation sites are present in the extracellular medium.;Glycosylated.;Palmitoylated. Belongs to the apolipoprotein A1/A4/E family. PPAR signaling pathway;Fat digestion and absorption;Vitamin digestion and absorption;African trypanosomiasis;Retinoid metabolism and transport;PPARA activates gene expression;Amyloid fiber formation;Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Scavenging by Class A Receptors;ABC transporters in lipid homeostasis;Scavenging of heme from plasma;Scavenging by Class B Receptors;Defective ABCA1 causes Tangier disease;Post-translational protein phosphorylation;HDL assembly;HDL remodeling;HDL clearance;Chylomicron remodeling;Chylomicron assembly PE1 11 +NX_P02649 Apolipoprotein E 317 36154 5.65 0 Cytoplasmic vesicle;Extracellular matrix;Secreted;Extracellular space Sea-blue histiocyte disease;Familial hypercholesterolemia;Alzheimer disease 2;Hyperlipoproteinemia 3;Lipoprotein glomerulopathy APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids (PubMed:6860692, PubMed:1911868, PubMed:14754908). APOE is a core component of plasma lipoproteins and is involved in their production, conversion and clearance (PubMed:6860692, PubMed:2762297, PubMed:1911868, PubMed:1917954, PubMed:9395455, PubMed:14754908, PubMed:23620513). Apoliproteins are amphipathic molecules that interact both with lipids of the lipoprotein particle core and the aqueous environment of the plasma (PubMed:6860692, PubMed:2762297, PubMed:9395455). As such, APOE associates with chylomicrons, chylomicron remnants, very low density lipoproteins (VLDL) and intermediate density lipoproteins (IDL) but shows a preferential binding to high-density lipoproteins (HDL) (PubMed:6860692, PubMed:1911868). It also binds a wide range of cellular receptors including the LDL receptor/LDLR, the LDL receptor-related proteins LRP1, LRP2 and LRP8 and the very low-density lipoprotein receptor/VLDLR that mediate the cellular uptake of the APOE-containing lipoprotein particles (PubMed:2762297, PubMed:1917954, PubMed:7768901, PubMed:8939961, PubMed:12950167, PubMed:20030366, PubMed:2063194, PubMed:8756331, PubMed:20303980, PubMed:1530612, PubMed:7635945). Finally, APOE has also a heparin-binding activity and binds heparan-sulfate proteoglycans on the surface of cells, a property that supports the capture and the receptor-mediated uptake of APOE-containing lipoproteins by cells (PubMed:9395455, PubMed:9488694, PubMed:23676495, PubMed:7635945). A main function of APOE is to mediate lipoprotein clearance through the uptake of chylomicrons, VLDLs, and HDLs by hepatocytes (PubMed:1911868, PubMed:1917954, PubMed:9395455, PubMed:23676495, PubMed:29516132). APOE is also involved in the biosynthesis by the liver of VLDLs as well as their uptake by peripheral tissues ensuring the delivery of triglycerides and energy storage in muscle, heart and adipose tissues (PubMed:2762297, PubMed:29516132). By participating to the lipoprotein-mediated distribution of lipids among tissues, APOE plays a critical role in plasma and tissues lipid homeostasis (PubMed:2762297, PubMed:1917954, PubMed:29516132). APOE is also involved in two steps of reverse cholesterol transport, the HDLs-mediated transport of cholesterol from peripheral tissues to the liver, and thereby plays an important role in cholesterol homeostasis (PubMed:9395455, PubMed:14754908, PubMed:23620513). First, it is functionally associated with ABCA1 in the biogenesis of HDLs in tissues (PubMed:14754908, PubMed:23620513). Second, it is enriched in circulating HDLs and mediates their uptake by hepatocytes (PubMed:9395455). APOE also plays an important role in lipid transport in the central nervous system, regulating neuron survival and sprouting (PubMed:8939961, PubMed:25173806). APOE in also involved in innate and adaptive immune responses, controlling for instance the survival of myeloid-derived suppressor cells (By similarity). APOE, may also play a role in transcription regulation through a receptor-dependent and cholesterol-independent mechanism, that activates MAP3K12 and a non-canonical MAPK signal transduction pathway that results in enhanced AP-1-mediated transcription of APP (PubMed:28111074). Glycated in plasma VLDL of normal subjects, and of hyperglycemic diabetic patients at a higher level (2-3 fold).;Phosphorylated by FAM20C in the extracellular medium.;APOE exists as multiple glycosylated and sialylated glycoforms within cells and in plasma (PubMed:29516132). The extent of glycosylation and sialylation are tissue and context specific (PubMed:29516132). Plasma APOE undergoes desialylation and is less glycosylated and sialylated than the cellular form (PubMed:2498325, PubMed:19838169, PubMed:20511397, PubMed:23234360). Glycosylation is not required for proper expression and secretion (PubMed:2498325). O-glycosylated with core 1 or possibly core 8 glycans. Thr-307 and Ser-314 are minor glycosylation sites compared to Ser-308 (PubMed:19838169, PubMed:23234360).;Undergoes C-terminal proteolytic processing in neurons. C-terminally truncated APOE has a tendency to form neurotoxic intracellular neurofibrillary tangle-like inclusions in neurons. Belongs to the apolipoprotein A1/A4/E family. Alzheimer's disease;Retinoid metabolism and transport;Nuclear signaling by ERBB4;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Scavenging by Class A Receptors;Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors;Post-translational protein phosphorylation;Chylomicron clearance;HDL remodeling;Chylomicron remodeling;Chylomicron assembly PE1 19 +NX_P02652 Apolipoprotein A-II 100 11175 6.27 0 Secreted NA May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the HDL metabolism. Apolipoprotein A-II is O-glycosylated.;Phosphorylation sites are present in the extracellular medium. Belongs to the apolipoprotein A2 family. PPAR signaling pathway;Retinoid metabolism and transport;PPARA activates gene expression;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation;Chylomicron remodeling;Chylomicron assembly PE1 1 +NX_P02654 Apolipoprotein C-I 83 9332 8.01 0 Endoplasmic reticulum;Secreted NA Inhibitor of lipoprotein binding to the low density lipoprotein (LDL) receptor, LDL receptor-related protein, and very low density lipoprotein (VLDL) receptor. Associates with high density lipoproteins (HDL) and the triacylglycerol-rich lipoproteins in the plasma and makes up about 10% of the protein of the VLDL and 2% of that of HDL. Appears to interfere directly with fatty acid uptake and is also the major plasma inhibitor of cholesteryl ester transfer protein (CETP). Binds free fatty acids and reduces their intracellular esterification. Modulates the interaction of APOE with beta-migrating VLDL and inhibits binding of beta-VLDL to the LDL receptor-related protein. NA Belongs to the apolipoprotein C1 family. VLDL assembly;VLDL clearance PE1 19 +NX_P02655 Apolipoprotein C-II 101 11284 4.72 0 Secreted Hyperlipoproteinemia 1B Component of chylomicrons, very low-density lipoproteins (VLDL), low-density lipoproteins (LDL), and high-density lipoproteins (HDL) in plasma. Plays an important role in lipoprotein metabolism as an activator of lipoprotein lipase. Both proapolipoprotein C-II and apolipoprotein C-II can activate lipoprotein lipase. In normolipidemic individuals, it is mainly distributed in the HDL, whereas in hypertriglyceridemic individuals, predominantly found in the VLDL and LDL. Proapolipoprotein C-II, the major form found in plasma undergoes proteolytic cleavage of its N-terminal hexapeptide to generate apolipoprotein C-II, which occurs as the minor form in plasma.;Proapolipoprotein C-II is synthesized as a sialic acid containing glycoprotein which is subsequently desialylated prior to its proteolytic processing. Belongs to the apolipoprotein C2 family. Retinoid metabolism and transport;Assembly of active LPL and LIPC lipase complexes;HDL remodeling;Chylomicron remodeling;Chylomicron assembly PE1 19 +NX_P02656 Apolipoprotein C-III 99 10852 5.23 0 Nucleoplasm;Cell junction;Secreted;Nucleolus Hyperalphalipoproteinemia 2 Component of triglyceride-rich very low density lipoproteins (VLDL) and high density lipoproteins (HDL) in plasma (PubMed:18201179, PubMed:22510806). Plays a multifaceted role in triglyceride homeostasis (PubMed:18201179, PubMed:22510806). Intracellularly, promotes hepatic very low density lipoprotein 1 (VLDL1) assembly and secretion; extracellularly, attenuates hydrolysis and clearance of triglyceride-rich lipoproteins (TRLs) (PubMed:18201179, PubMed:22510806). Impairs the lipolysis of TRLs by inhibiting lipoprotein lipase and the hepatic uptake of TRLs by remnant receptors (PubMed:18201179, PubMed:22510806). Formed of several curved helices connected via semiflexible hinges, so that it can wrap tightly around the curved micelle surface and easily adapt to the different diameters of its natural binding partners (PubMed:18408013). The most abundant glycoforms are characterized by an O-linked disaccharide galactose linked to N-acetylgalactosamine (Gal-GalNAc), further modified with up to 3 sialic acid residues. Less abundant glycoforms are characterized by more complex and fucosylated glycan moieties. O-glycosylated on Thr-94 with a core 1 or possibly core 8 glycan. Belongs to the apolipoprotein C3 family. PPAR signaling pathway;Retinoid metabolism and transport;HDL remodeling;Chylomicron remodeling;Chylomicron assembly PE1 11 +NX_P02671 Fibrinogen alpha chain 866 94973 5.7 0 Endoplasmic reticulum;Secreted Amyloidosis 8;Congenital afibrinogenemia;Dysfibrinogenemia, congenital Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets via an ITGB3-dependent pathway. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the immune response via both innate and T-cell mediated pathways. O-glycosylated.;About one-third of the alpha chains in the molecules in blood were found to be phosphorylated.;Phosphorylated by FAM20C in the extracellular medium.;Forms F13A-mediated cross-links between a glutamine and the epsilon-amino group of a lysine residue, forming fibronectin-fibrinogen heteropolymers.;Conversion of fibrinogen to fibrin is triggered by thrombin, which cleaves fibrinopeptides A and B from alpha and beta chains, and thus exposes the N-terminal polymerization sites responsible for the formation of the soft clot. The soft clot is converted into the hard clot by factor XIIIA which catalyzes the epsilon-(gamma-glutamyl)lysine cross-linking between gamma chains (stronger) and between alpha chains (weaker) of different monomers.;The alpha chain is normally not N-glycosylated (PubMed:23151259), even though glycosylation at Asn-686 was observed when a fragment of the protein was expressed in insect cells (PubMed:9689040). It is well known that heterologous expression of isolated domains can lead to adventitious protein modifications. Besides, glycosylation at Asn-686 is supported by large-scale glycoproteomics studies (PubMed:16335952 and PubMed:19159218), but the evidence is still quite tenuous. Most likely, Asn-686 is not glycosylated in the healthy human body, or only with low efficiency. NA Complement and coagulation cascades;Amyloid fiber formation;MAP2K and MAPK activation;Integrin cell surface interactions;Common Pathway of Fibrin Clot Formation;Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Integrin alphaIIb beta3 signaling;GRB2:SOS provides linkage to MAPK signaling for Integrins;p130Cas linkage to MAPK signaling for integrins;Regulation of TLR by endogenous ligand;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;Post-translational protein phosphorylation PE1 4 +NX_P02675 Fibrinogen beta chain 491 55928 8.54 0 Endoplasmic reticulum;Secreted Congenital afibrinogenemia;Dysfibrinogenemia, congenital Cleaved by the protease thrombin to yield monomers which, together with fibrinogen alpha (FGA) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the antibacterial immune response via both innate and T-cell mediated pathways. Conversion of fibrinogen to fibrin is triggered by thrombin, which cleaves fibrinopeptides A and B from alpha and beta chains, and thus exposes the N-terminal polymerization sites responsible for the formation of the soft clot. The soft clot is converted into the hard clot by factor XIIIA which catalyzes the epsilon-(gamma-glutamyl)lysine cross-linking between gamma chains (stronger) and between alpha chains (weaker) of different monomers. NA Complement and coagulation cascades;MAP2K and MAPK activation;Integrin cell surface interactions;Common Pathway of Fibrin Clot Formation;Platelet degranulation;Integrin alphaIIb beta3 signaling;GRB2:SOS provides linkage to MAPK signaling for Integrins;p130Cas linkage to MAPK signaling for integrins;Regulation of TLR by endogenous ligand;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 4 +NX_P02679 Fibrinogen gamma chain 453 51512 5.37 0 Endoplasmic reticulum;Secreted Congenital afibrinogenemia;Dysfibrinogenemia, congenital Together with fibrinogen alpha (FGA) and fibrinogen beta (FGB), polymerizes to form an insoluble fibrin matrix. Has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets via an ITGB3-dependent pathway. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the antibacterial immune response via both innate and T-cell mediated pathways. Sulfation of C-terminal tyrosines increases affinity for thrombin.;Conversion of fibrinogen to fibrin is triggered by thrombin, which cleaves fibrinopeptides A and B from alpha and beta chains, and thus exposes the N-terminal polymerization sites responsible for the formation of the soft clot. The soft clot is converted into the hard clot by factor XIIIA which catalyzes the epsilon-(gamma-glutamyl)lysine cross-linking between gamma chains (stronger) and between alpha chains (weaker) of different monomers. NA Complement and coagulation cascades;Staphylococcus aureus infection;MAP2K and MAPK activation;Integrin cell surface interactions;Common Pathway of Fibrin Clot Formation;Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Integrin alphaIIb beta3 signaling;GRB2:SOS provides linkage to MAPK signaling for Integrins;p130Cas linkage to MAPK signaling for integrins;Regulation of TLR by endogenous ligand;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;Post-translational protein phosphorylation PE1 4 +NX_P02686 Myelin basic protein 304 33117 9.79 0 Myelin membrane;Nucleus;Cell membrane NA The classic group of MBP isoforms (isoform 4-isoform 14) are with PLP the most abundant protein components of the myelin membrane in the CNS. They have a role in both its formation and stabilization. The smaller isoforms might have an important role in remyelination of denuded axons in multiple sclerosis. The non-classic group of MBP isoforms (isoform 1-isoform 3/Golli-MBPs) may preferentially have a role in the early developing brain long before myelination, maybe as components of transcriptional complexes, and may also be involved in signaling pathways in T-cells and neural cells. Differential splicing events combined with optional post-translational modifications give a wide spectrum of isomers, with each of them potentially having a specialized function. Induces T-cell proliferation. The N-terminal alanine is acetylated (isoform 3, isoform 4, isoform 5 and isoform 6).;Phosphorylated by TAOK2, VRK2, MAPK11, MAPK12, MAPK14 and MINK1.;Arg-241 was found to be 6% monomethylated and 60% symmetrically dimethylated.;Several charge isomers of MBP; C1 (the most cationic, least modified, and most abundant form), C2, C3, C4, C5, C6, C7, C8-A and C8-B (the least cationic form); are produced as a result of optional PTM, such as phosphorylation, deamidation of glutamine or asparagine, arginine citrullination and methylation. C8-A and C8-B contain each two mass isoforms termed C8-A(H), C8-A(L), C8-B(H) and C8-B(L), (H) standing for higher and (L) for lower molecular weight. C3, C4 and C5 are phosphorylated. The ratio of methylated arginine residues decreases during aging, making the protein more cationic.;MBP is phosphorylated by TAOK2 Belongs to the myelin basic protein family. NA PE1 18 +NX_P02689 Myelin P2 protein 132 14909 9.84 0 Cytoplasm Charcot-Marie-Tooth disease, demyelinating, 1G May play a role in lipid transport protein in Schwann cells. May bind cholesterol. NA Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. NA PE1 8 +NX_P02708 Acetylcholine receptor subunit alpha 482 54546 5.78 4 Cell membrane;Postsynaptic cell membrane Multiple pterygium syndrome, lethal type;Myasthenic syndrome, congenital, 1A, slow-channel;Myasthenic syndrome, congenital, 1B, fast-channel After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-1/CHRNA1 sub-subfamily. Neuroactive ligand-receptor interaction;Highly calcium permeable postsynaptic nicotinic acetylcholine receptors;Highly calcium permeable nicotinic acetylcholine receptors PE1 2 +NX_P02724 Glycophorin-A 150 16331 5.29 1 Nucleoplasm;Cytosol;Cell membrane NA Glycophorin A is the major intrinsic membrane protein of the erythrocyte. The N-terminal glycosylated segment, which lies outside the erythrocyte membrane, has MN blood group receptors. Appears to be important for the function of SLC4A1 and is required for high activity of SLC4A1. May be involved in translocation of SLC4A1 to the plasma membrane. Is a receptor for influenza virus. Is a receptor for Plasmodium falciparum erythrocyte-binding antigen 175 (EBA-175); binding of EBA-175 is dependent on sialic acid residues of the O-linked glycans. Appears to be a receptor for Hepatitis A virus (HAV). The major O-linked glycan are NeuAc-alpha-(2-3)-Gal-beta-(1-3)-[NeuAc-alpha-(2-6)]-GalNAcOH (about 78 %) and NeuAc-alpha-(2-3)-Gal-beta-(1-3)-GalNAcOH (17 %). Minor O-glycans (5 %) include NeuAc-alpha-(2-3)-Gal-beta-(1-3)-[NeuAc-alpha-(2-6)]-GalNAcOH NeuAc-alpha-(2-8)-NeuAc-alpha-(2-3)-Gal-beta-(1-3)-GalNAcOH. About 1% of all O-linked glycans carry blood group A, B and H determinants. They derive from a type-2 precursor core structure, Gal-beta-(1,3)-GlcNAc-beta-1-R, and the antigens are synthesized by addition of fucose (H antigen-specific) and then N-acetylgalactosamine (A antigen-specific) or galactose (B antigen-specific). Specifically O-linked-glycans are NeuAc-alpha-(2-3)-Gal-beta-(1-3)-GalNAcOH-(6-1)-GlcNAc-beta-(4-1)-[Fuc-alpha-(1-2)]-Gal-beta-(3-1)-GalNAc-alpha (about 1%, B antigen-specific) and NeuAc-alpha-(2-3)-Gal-beta-(1-3)-GalNAcOH-(6-1)-GlcNAc-beta-(4-1)-[Fuc-alpha-(1-2)]-Gal-beta (1 %, O antigen-, A antigen- and B antigen-specific). Belongs to the glycophorin A family. Hematopoietic cell lineage;Malaria;Cell surface interactions at the vascular wall PE1 4 +NX_P02730 Band 3 anion transport protein 911 101792 5.08 12 Basolateral cell membrane;Cell membrane Renal tubular acidosis, distal, autosomal dominant;Ovalocytosis, Southeast Asian;Cryohydrocytosis;Renal tubular acidosis, distal, with hemolytic anemia;Spherocytosis 4;Renal tubular acidosis, distal, with normal red cell morphology Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein. Major integral membrane glycoprotein of the erythrocyte membrane; required for normal flexibility and stability of the erythrocyte membrane and for normal erythrocyte shape via the interactions of its cytoplasmic domain with cytoskeletal proteins, glycolytic enzymes, and hemoglobin. Functions as a transporter that mediates the 1:1 exchange of inorganic anions across the erythrocyte membrane. Mediates chloride-bicarbonate exchange in the kidney, and is required for normal acidification of the urine. Phosphorylated on Tyr-359 and Tyr-904 most likely by LYN. PP1-inhibited phosphorylation that follows Tyr-8 and Tyr-21 phosphorylation.;N-glycosylated.;Phosphorylated on Tyr-8 and Tyr-21 most likely by SYK. PP1-resistant phosphorylation that precedes Tyr-359 and Tyr-904 phosphorylation. Belongs to the anion exchanger (TC 2.A.31) family. Collecting duct acid secretion;Bicarbonate transporters;Erythrocytes take up carbon dioxide and release oxygen;Erythrocytes take up oxygen and release carbon dioxide;Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) PE1 17 +NX_P02741 C-reactive protein 224 25039 5.45 0 Cytoplasmic vesicle;Nucleoplasm;Secreted;Cytoskeleton NA Displays several functions associated with host defense: it promotes agglutination, bacterial capsular swelling, phagocytosis and complement fixation through its calcium-dependent binding to phosphorylcholine. Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells. NA Belongs to the pentraxin family. Classical antibody-mediated complement activation PE1 1 +NX_P02743 Serum amyloid P-component 223 25387 6.1 0 Secreted NA Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells. May also function as a calcium-dependent lectin. N-glycosylated with a complex biantennary oligosaccharide chain with a sialic acid at the end (disialo-SAP). Monosialo-SAP as well as asioalo-SAP are also detected (PubMed:15174148). Belongs to the pentraxin family. Amyloid fiber formation PE1 1 +NX_P02745 Complement C1q subcomponent subunit A 245 26017 9.26 0 Secreted Complement component C1q deficiency C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes. O-linked glycans are assumed to be the Glc-Gal disaccharides typically found as secondary modifications of hydroxylated lysines in collagen-like domains. NA Complement and coagulation cascades;Prion diseases;Pertussis;Chagas disease (American trypanosomiasis);Staphylococcus aureus infection;Systemic lupus erythematosus;Regulation of Complement cascade;Initial triggering of complement;Classical antibody-mediated complement activation PE1 1 +NX_P02746 Complement C1q subcomponent subunit B 253 26722 8.83 0 Secreted Complement component C1q deficiency C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes. Hydroxylated on lysine and proline residues. Hydroxylated lysine residues can be glycosylated. Human C1Q contains up to 68.3 hydroxylysine-galactosylglucose residues and up to 2.5 hydroxylysine-galactose per molecule. Total percentage hydroxylysine residues glycosylated is 86.4%. NA Complement and coagulation cascades;Prion diseases;Pertussis;Chagas disease (American trypanosomiasis);Staphylococcus aureus infection;Systemic lupus erythematosus;Regulation of Complement cascade;Initial triggering of complement;Classical antibody-mediated complement activation PE1 1 +NX_P02747 Complement C1q subcomponent subunit C 245 25774 8.61 0 Secreted Complement component C1q deficiency C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes. O-linked glycans consist of Glc-Gal disaccharides bound to the oxygen atom of post-translationally added hydroxyl groups. NA Complement and coagulation cascades;Prion diseases;Pertussis;Chagas disease (American trypanosomiasis);Staphylococcus aureus infection;Systemic lupus erythematosus;Regulation of Complement cascade;Initial triggering of complement;Classical antibody-mediated complement activation PE1 1 +NX_P02748 Complement component C9 559 63173 5.43 2 Secreted;Target cell membrane Macular degeneration, age-related, 15;Complement component 9 deficiency Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells (PubMed:9634479, PubMed:9212048, PubMed:26841934). C9 is the pore-forming subunit of the MAC (PubMed:4055801, PubMed:26841934, PubMed:30111885). Thrombin cleaves factor C9 to produce C9a and C9b.;Initially, positions and connectivity of disulfide bonds were based on peptide sequencing done for the human protein (PubMed:8603752). The crystal structures for the human and mouse proteins corrected the positions and connectivities of the disulfide bonds (PubMed:30111885). The distance between Cys-57 and Cys-94 in the monomeric mouse protein precludes formation of a disulfide bond, contrary to what is seen in the structure of the human polymeric form of the protein (Probable).;Phosphorylation sites are present in the extracellular medium. Belongs to the complement C6/C7/C8/C9 family. Complement and coagulation cascades;Prion diseases;Amoebiasis;Systemic lupus erythematosus;Terminal pathway of complement;Regulation of Complement cascade PE1 5 +NX_P02749 Beta-2-glycoprotein 1 345 38298 8.34 0 Golgi apparatus;Secreted NA Binds to various kinds of negatively charged substances such as heparin, phospholipids, and dextran sulfate. May prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the surface of damaged cells. N- and O-glycosylated. PubMed:6587378 also reports glycosylation on 'Asn-188' for their allele. NA Platelet degranulation PE1 17 +NX_P02750 Leucine-rich alpha-2-glycoprotein 347 38178 6.45 0 Cytoplasmic vesicle;Secreted NA NA NA NA Neutrophil degranulation PE1 19 +NX_P02751 Fibronectin 2477 272320 5.32 0 Extracellular matrix Glomerulopathy with fibronectin deposits 2;Spondylometaphyseal dysplasia, corner fracture type Fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and actin. Fibronectins are involved in cell adhesion, cell motility, opsonization, wound healing, and maintenance of cell shape. Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralization. Participates in the regulation of type I collagen deposition by osteoblasts.;Anastellin binds fibronectin and induces fibril formation. This fibronectin polymer, named superfibronectin, exhibits enhanced adhesive properties. Both anastellin and superfibronectin inhibit tumor growth, angiogenesis and metastasis. Anastellin activates p38 MAPK and inhibits lysophospholipid signaling. Sulfated.;Proteolytic processing produces the C-terminal NC1 peptide, anastellin.;Some lysine residues are oxidized to allysine by LOXL3, promoting fibronectin activation and matrix formation.;It is not known whether both or only one of Thr-2155 and Thr-2156 are/is glycosylated.;Phosphorylated by FAM20C in the extracellular medium.;Forms covalent cross-links mediated by a transglutaminase, such as F13A or TGM2, between a glutamine and the epsilon-amino group of a lysine residue, forming homopolymers and heteropolymers (e.g. Fibrinogen-fibronectin, collagen-fibronectin heteropolymers). NA Focal adhesion;ECM-receptor interaction;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Amoebiasis;Pathways in cancer;Small cell lung cancer;Degradation of the extracellular matrix;Syndecan interactions;MAP2K and MAPK activation;Integrin cell surface interactions;Cell surface interactions at the vascular wall;Platelet degranulation;ECM proteoglycans;Molecules associated with elastic fibres;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Non-integrin membrane-ECM interactions;Integrin alphaIIb beta3 signaling;Fibronectin matrix formation;GRB2:SOS provides linkage to MAPK signaling for Integrins;Extracellular matrix organization;p130Cas linkage to MAPK signaling for integrins;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;MET activates PTK2 signaling;Interleukin-4 and Interleukin-13 signaling;Post-translational protein phosphorylation PE1 2 +NX_P02753 Retinol-binding protein 4 201 23010 5.76 0 Secreted Retinal dystrophy, iris coloboma, and comedogenic acne syndrome;Microphthalmia, isolated, with coloboma, 10 Retinol-binding protein that mediates retinol transport in blood plasma (PubMed:5541771). Delivers retinol from the liver stores to the peripheral tissues (Probable). Transfers the bound all-trans retinol to STRA6, that then facilitates retinol transport across the cell membrane (PubMed:22665496). NA Belongs to the calycin superfamily. Lipocalin family. The canonical retinoid cycle in rods (twilight vision);Retinoid metabolism and transport;Retinoid cycle disease events;Retinoid metabolism disease events PE1 10 +NX_P02760 Protein AMBP 352 38999 5.95 0 Golgi apparatus;Cytosol;Secreted NA Trypstatin is a trypsin inhibitor.;Inter-alpha-trypsin inhibitor inhibits trypsin, plasmin, and lysosomal granulocytic elastase. Inhibits calcium oxalate crystallization. Heavy chains are interlinked with bikunin via a chondroitin 4-sulfate bridge to the their C-terminal aspartate.;N- and O-glycosylated. N-glycan heterogeneity at Asn-115: Hex5HexNAc4 (major), Hex6HexNAc5 (minor) and dHex1Hex6HexNAc5 (minor). N-glycan at Asn-250: Hex5HexNAc4. O-linkage of the glycosaminoglycan, chondroitin sulfate, at Ser-215 allows cross-linking between the three polypeptide chains.;The precursor is proteolytically processed into separately functioning proteins.;3-hydroxykynurenine, an oxidized tryptophan metabolite that is common in biological fluids, reacts with Cys-53, Lys-111, Lys-137, and Lys-149 to form heterogeneous polycyclic chromophores including hydroxanthommatin. The reaction by alpha-1-microglobulin is autocatalytic; the human protein forms chromophore even when expressed in insect and bacterial cells. The chromophore can react with accessible cysteines forming non-reducible thioether cross-links with other molecules of alpha-1-microglobulin or with other proteins such as Ig alpha-1 chain C region 'Cys-352'. In the N-terminal section; belongs to the calycin superfamily. Lipocalin family. Scavenging of heme from plasma PE1 9 +NX_P02763 Alpha-1-acid glycoprotein 1 201 23512 4.93 0 Secreted NA Functions as transport protein in the blood stream. Binds various ligands in the interior of its beta-barrel domain. Also binds synthetic drugs and influences their distribution and availability in the body. Appears to function in modulating the activity of the immune system during the acute-phase reaction. N-glycosylated. N-glycan heterogeneity at Asn-33: Hex5HexNAc4 (minor), Hex6HexNAc5 (major) and dHex1Hex6HexNAc5 (minor). Belongs to the calycin superfamily. Lipocalin family. Platelet degranulation;Neutrophil degranulation PE1 9 +NX_P02765 Alpha-2-HS-glycoprotein 367 39341 5.43 0 Golgi apparatus;Secreted Alopecia-mental retardation syndrome 1 Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions. Phosphorylated by FAM20C in the extracellular medium.;O- and N-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. N-glycan at Asn-156: Hex5HexNAc4; N-glycan heterogeneity at Asn-176: Hex5HexNAc4 (major) and Hex6HexNAc5 (minor). Belongs to the fetuin family. Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Neutrophil degranulation;Post-translational protein phosphorylation PE1 3 +NX_P02766 Transthyretin 147 15887 5.52 0 Golgi apparatus;Cytoplasm;Secreted Amyloidosis, transthyretin-related;Hyperthyroxinemia, dystransthyretinemic;Carpal tunnel syndrome 1 Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain. Not glycosylated under normal conditions. Following unfolding, caused for example by variant AMYL-TTR 'Gly-38', the cryptic Asn-118 site is exposed and glycosylated by STT3B-containing OST complex, leading to its degradation by the ER-associated degradation (ERAD) pathway. Belongs to the transthyretin family. The canonical retinoid cycle in rods (twilight vision);Retinoid metabolism and transport;Amyloid fiber formation;Non-integrin membrane-ECM interactions;Retinoid cycle disease events;Neutrophil degranulation PE1 18 +NX_P02768 Serum albumin 609 69367 5.92 0 Endoplasmic reticulum;Golgi apparatus;Secreted Hyperthyroxinemia, familial dysalbuminemic;Analbuminemia Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs (Probable). Its main function is the regulation of the colloidal osmotic pressure of blood (Probable). Major zinc transporter in plasma, typically binds about 80% of all plasma zinc (PubMed:19021548). Major calcium and magnesium transporter in plasma, binds approximately 45% of circulating calcium and magnesium in plasma (By similarity). Potentially has more than two calcium-binding sites and might additionally bind calcium in a non-specific manner (By similarity). The shared binding site between zinc and calcium at residue Asp-273 suggests a crosstalk between zinc and calcium transport in the blood (By similarity). The rank order of affinity is zinc > calcium > magnesium (By similarity). Binds to the bacterial siderophore enterobactin and inhibits enterobactin-mediated iron uptake of E.coli from ferric transferrin, and may thereby limit the utilization of iron and growth of enteric bacteria such as E.coli (PubMed:6234017). Does not prevent iron uptake by the bacterial siderophore aerobactin (PubMed:6234017). Phosphorylated by FAM20C in the extracellular medium.;Glycated in diabetic patients.;Acetylated on Lys-223 by acetylsalicylic acid.;Kenitra variant is partially O-glycosylated at Thr-620. It has two new disulfide bonds Cys-600 to Cys-602 and Cys-601 to Cys-606. Belongs to the ALB/AFP/VDB family. Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Transport of organic anions;Scavenging of heme from plasma;Recycling of bile acids and salts;Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR);Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR);Post-translational protein phosphorylation;HDL remodeling PE1 4 +NX_P02771 Alpha-fetoprotein 609 68678 5.48 0 Golgi apparatus;Cytosol;Secreted Alpha-fetoprotein, hereditary persistence;Alpha-fetoprotein deficiency Binds copper, nickel, and fatty acids as well as, and bilirubin less well than, serum albumin. Only a small percentage (less than 2%) of the human AFP shows estrogen-binding properties. Sulfated.;Independent studies suggest heterogeneity of the N-terminal sequence of the mature protein and of the cleavage site of the signal sequence. Belongs to the ALB/AFP/VDB family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 4 +NX_P02774 Vitamin D-binding protein 474 52918 5.32 0 Secreted NA Involved in vitamin D transport and storage, scavenging of extracellular G-actin, enhancement of the chemotactic activity of C5 alpha for neutrophils in inflammation and macrophage activation. Allele GC*1S is O-glycosylated at Thr-436 (PubMed:20079467). The trisaccharide sugar moiety can be modified by the successive removal of neuraminic acid and galactose leaving an O-mceeN-acetyl-galactosamine. This conversion is thought to produce a macrophage-activating factor (Gc-MAF). Only a minor proportion of plasma GC is O-glycosylated (PubMed:17360250). The potential N-glycosylation site predicted at Asn-288 is thought to be nonglycosylated. Belongs to the ALB/AFP/VDB family. Vitamin D (calciferol) metabolism PE1 4 +NX_P02775 Platelet basic protein 128 13894 9.04 0 Secreted NA LA-PF4 stimulates DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and synthesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by human synovial cells. NAP-2 is a ligand for CXCR1 and CXCR2, and NAP-2, NAP-2(73), NAP-2(74), NAP-2(1-66), and most potent NAP-2(1-63) are chemoattractants and activators for neutrophils. TC-1 and TC-2 are antibacterial proteins, in vitro released from activated platelet alpha-granules. CTAP-III(1-81) is more potent than CTAP-III desensitize chemokine-induced neutrophil activation. NAP-2(73) and NAP-2(74) seem not be produced by proteolytical processing of secreted precursors but are released in an active form from platelets.;NAP-2(1-66) is produced by proteolytical processing, probably after secretion by leukocytes other than neutrophils.;Proteolytic removal of residues 1-13 produces the active peptide beta-thromboglobulin, which is released from platelets along with platelet factor 4 and platelet-derived growth factor.;Proteolytic removal of residues 1-9 produces the active peptide connective tissue-activating peptide III (CTAP-III) (low-affinity platelet factor IV (LA-PF4)). Belongs to the intercrine alpha (chemokine CxC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines;Platelet degranulation;Neutrophil degranulation PE1 4 +NX_P02776 Platelet factor 4 101 10845 8.93 0 Secreted NA Released during platelet aggregation. Neutralizes the anticoagulant effect of heparin because it binds more strongly to heparin than to the chondroitin-4-sulfate chains of the carrier molecule. Chemotactic for neutrophils and monocytes. Inhibits endothelial cell proliferation, the short form is a more potent inhibitor than the longer form. NA Belongs to the intercrine alpha (chemokine CxC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines;Common Pathway of Fibrin Clot Formation;Cell surface interactions at the vascular wall;Platelet degranulation;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 4 +NX_P02778 C-X-C motif chemokine 10 98 10881 9.93 0 Secreted NA Pro-inflammatory cytokine that is involved in a wide variety of processes such as chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects (PubMed:7540647, PubMed:11157474, PubMed:22652417). Plays thereby an important role during viral infections by stimulating the activation and migration of immune cells to the infected sites (By similarity). Mechanistically, binding of CXCL10 to the CXCR3 receptor activates G protein-mediated signaling and results in downstream activation of phospholipase C-dependent pathway, an increase in intracellular calcium production and actin reorganization (PubMed:12750173, PubMed:19151743). In turn, recruitment of activated Th1 lymphocytes occurs at sites of inflammation (PubMed:12750173, PubMed:12663757). Activation of the CXCL10/CXCR3 axis plays also an important role in neurons in response to brain injury for activating microglia, the resident macrophage population of the central nervous system, and directing them to the lesion site. This recruitment is an essential element for neuronal reorganization (By similarity). Several proteases can mediate post-secretion cleavages. DPP4 cleaves CXCL10 on its N-terminal 2 amino acids leading to an antagonist form of CXCL10. This dominant negative form is capable of binding CXCR3 but does not induce signaling. MMP9 cleaves 9 amino acids instead. Belongs to the intercrine alpha (chemokine CxC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Influenza A;G alpha (i) signalling events;Chemokine receptors bind chemokines;Interleukin-10 signaling PE1 4 +NX_P02786 Transferrin receptor protein 1 760 84871 6.18 1 Cell membrane;Secreted;Endosome;Melanosome;Lysosome Immunodeficiency 46 (Microbial infection) Acts as a receptor for new-world arenaviruses: Guanarito, Junin and Machupo virus.;Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system (By similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding with transferrin for an overlapping C-terminal binding site. Positively regulates T and B cell proliferation through iron uptake (PubMed:26642240). Proteolytically cleaved on Arg-100 to produce the soluble serum form (sTfR).;Palmitoylated on both Cys-62 and Cys-67. Cys-62 seems to be the major site of palmitoylation.;N- and O-glycosylated, phosphorylated and palmitoylated. The serum form is only glycosylated. Belongs to the peptidase M28 family. M28B subfamily. Endocytosis;Phagosome;Hematopoietic cell lineage;Transferrin endocytosis and recycling;Golgi Associated Vesicle Biogenesis;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 3 +NX_P02787 Serotransferrin 698 77064 6.81 0 Secreted Atransferrinemia Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation. NA Belongs to the transferrin family. Mineral absorption;Transferrin endocytosis and recycling;Platelet degranulation;Iron uptake and transport;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Post-translational protein phosphorylation PE1 3 +NX_P02788 Lactotransferrin 710 78182 8.5 0 Cytoplasm;Cytoplasmic granule;Secreted;Nucleus NA Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate.;The lactotransferrin transferrin-like domain 1 functions as a serine protease of the peptidase S60 family that cuts arginine rich regions. This function contributes to the antimicrobial activity. Shows a preferential cleavage at -Arg-Ser-Arg-Arg-|- and -Arg-Arg-Ser-Arg-|-, and of Z-Phe-Arg-|-aminomethylcoumarin sites.;Kaliocin-1 has antimicrobial activity and is able to permeabilize different ions through liposomal membranes.;Lactoferricin binds to the bacterial surface and is crucial for the bactericidal functions. Has some antiviral activity against papillomavirus infection. N-terminal region shows strong antifungal activity against C.albicans. Contains two BBXB heparin-binding consensus sequences that appear to form the predominate functional GAG-binding site.;Lactoferroxins A, B and C have opioid antagonist activity. Lactoferroxin A shows preference for mu-receptors, while lactoferroxin B and C have somewhat higher degrees of preference for kappa-receptors than for mu-receptors.;Transcription factor with antiproliferative properties and ability to induce cell cycle arrest. Binds to the DeltaLf response element found in the SKP1, BAX, DCPS, and SELENOH promoters.;Lactotransferrin is a major iron-binding and multifunctional protein found in exocrine fluids such as breast milk and mucosal secretions. Has antimicrobial activity, which depends on the extracellular cation concentration. Antimicrobial properties include bacteriostasis, which is related to its ability to sequester free iron and thus inhibit microbial growth, as well as direct bactericidal properties leading to the release of lipopolysaccharides from the bacterial outer membrane. Can also prevent bacterial biofilm development in P.aeruginosa infection. Has weak antifungal activity against C.albicans. Has anabolic, differentiating and anti-apoptotic effects on osteoblasts and can also inhibit osteoclastogenesis, possibly playing a role in the regulation of bone growth. Promotes binding of species C adenoviruses to epithelial cells, promoting adenovirus infection. Can inhibit papillomavirus infections. Stimulates the TLR4 signaling pathway leading to NF-kappa-B activation and subsequent pro-inflammatory cytokine production while also interfering with the lipopolysaccharide (LPS)-stimulated TLR4 signaling. Inhibits neutrophil granulocyte migration to sites of apoptosis, when secreted by apoptotic cells. Stimulates VEGFA-mediated endothelial cell migration and proliferation. Binds heparin, chondroitin sulfate and possibly other glycosaminoglycans (GAGs). Also binds specifically to pneumococcal surface protein A (pspA), the lipid A portion of bacterial lipopolysaccharide (LPS), lysozyme and DNA. Ubiquitinated at Lys-379 and Lys-391.;Poly-N-acetyllactosaminic carbohydrate moiety seems to be needed for TLR4 activation. Belongs to the transferrin family. Amyloid fiber formation;Mtb iron assimilation by chelation;Neutrophil degranulation;Antimicrobial peptides;Metal sequestration by antimicrobial proteins PE1 3 +NX_P02790 Hemopexin 462 51676 6.55 0 Secreted NA Binds heme and transports it to the liver for breakdown and iron recovery, after which the free hemopexin returns to the circulation. N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. O-glycosylation in the 30-40 region is minor compared to glycosylation at Thr-24 and Thr-29. Belongs to the hemopexin family. Scavenging of heme from plasma PE1 11 +NX_P02792 Ferritin light chain 175 20020 5.51 0 Cytosol Hyperferritinemia with or without cataract;Neurodegeneration with brain iron accumulation 3;L-ferritin deficiency Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity). NA Belongs to the ferritin family. Porphyrin and chlorophyll metabolism;Mineral absorption;Golgi Associated Vesicle Biogenesis;Iron uptake and transport;Scavenging by Class A Receptors;Neutrophil degranulation PE1 19 +NX_P02794 Ferritin heavy chain 183 21226 5.31 0 Cytoskeleton Hemochromatosis 5 Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity). NA Belongs to the ferritin family. Porphyrin and chlorophyll metabolism;Mineral absorption;Golgi Associated Vesicle Biogenesis;Iron uptake and transport;Scavenging by Class A Receptors;Neutrophil degranulation PE1 11 +NX_P02795 Metallothionein-2 61 6042 8.23 0 Nucleolus;Nucleus NA Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. NA Belongs to the metallothionein superfamily. Type 1 family. Mineral absorption;Interferon gamma signaling;Metallothioneins bind metals PE1 16 +NX_P02808 Statherin 62 7304 8.01 0 Secreted NA Salivary protein that stabilizes saliva supersaturated with calcium salts by inhibiting the precipitation of calcium phosphate salts. It also modulates hydroxyapatite crystal formation on the tooth surface. Sulfated on tyrosine residues.;Substrate for transglutaminase-2. More than 95% of the cyclized peptide is cyclo-statherin Q-37, and less than 5% is cyclo-statherin Q-39. Cyclized forms account for about 1% of total statherin in saliva. Belongs to the histatin/statherin family. Salivary secretion PE1 4 +NX_P02810 Salivary acidic proline-rich phosphoprotein 1/2 166 17016 4.63 0 Secreted NA PRP's act as highly potent inhibitors of crystal growth of calcium phosphates. They provide a protective and reparative environment for dental enamel which is important for the integrity of the teeth. An hexuronic acid was shown to be linked to Ser-33 in about 40% of the polypeptides. Neither the structure of the carbohydrate (whether glucuronic acid or an isomer of), nor the linkage (whether a glycoside or an ester) has been definitely established.;Proteolytically cleaved; PRP-2, PRP-1, PIF-S and Db-S yield PRP-4, PRP-3 (protein A), PIF-F and Db-F, respectively. NA Salivary secretion;Salivary secretion PE1 12 +NX_P02812 Basic salivary proline-rich protein 2 416 40799 11.63 0 Secreted NA NA Pyroglutamate formation occurs on terminal Gln residues of cleaved peptides. Pyroglutamate formation found on at least Gln-398 and Gln-400.;Proteolytically cleaved at the tripeptide Xaa-Pro-Gln, where Xaa in the P(3) position is mostly lysine. The endoprotease may be of microbial origin.;N- and O-glycosylated. In head and neck cancer patients, O-glycosylated with glucosylgalactosyl carbohydrate moiety. This modification would require prior hydroxylation on the lysine residue. NA NA PE1 12 +NX_P02814 Submaxillary gland androgen-regulated protein 3B 79 8188 9.62 0 Secreted NA NA P-A and D1A are probably degradation products of P-B. Belongs to the PROL1/PROL3 family. NA PE1 4 +NX_P02818 Osteocalcin 100 10963 6.56 0 Secreted NA Constitutes 1-2% of the total bone protein. It binds strongly to apatite and calcium. Gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation. These residues are essential for the binding of calcium. Belongs to the osteocalcin/matrix Gla protein family. Gamma-carboxylation of protein precursors;Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus;Removal of aminoterminal propeptides from gamma-carboxylated proteins;RUNX2 regulates osteoblast differentiation PE1 1 +NX_P03372 Estrogen receptor 595 66216 8.3 0 Golgi apparatus;Cytoplasm;Cell membrane;Nucleoplasm;Cytoplasmic vesicle;Nucleus Estrogen resistance Can bind to ERE and inhibit isoform 1.;Is involved in activation of NOS3 and endothelial nitric oxide production. Isoforms lacking one or several functional domains are thought to modulate transcriptional activity by competitive ligand or DNA binding and/or heterodimerization with the full-length receptor. Essential for MTA1-mediated transcriptional regulation of BRCA1 and BCAS3.;Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Ligand-dependent nuclear transactivation involves either direct homodimer binding to a palindromic estrogen response element (ERE) sequence or association with other DNA-binding transcription factors, such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3, to mediate ERE-independent signaling. Ligand binding induces a conformational change allowing subsequent or combinatorial association with multiprotein coactivator complexes through LXXLL motifs of their respective components. Mutual transrepression occurs between the estrogen receptor (ER) and NF-kappa-B in a cell-type specific manner. Decreases NF-kappa-B DNA-binding activity and inhibits NF-kappa-B-mediated transcription from the IL6 promoter and displace RELA/p65 and associated coregulators from the promoter. Recruited to the NF-kappa-B response element of the CCL2 and IL8 promoters and can displace CREBBP. Present with NF-kappa-B components RELA/p65 and NFKB1/p50 on ERE sequences. Can also act synergistically with NF-kappa-B to activate transcription involving respective recruitment adjacent response elements; the function involves CREBBP. Can activate the transcriptional activity of TFF1. Also mediates membrane-initiated estrogen signaling involving various kinase cascades. Palmitoylated (isoform 3). Not biotinylated (isoform 3).;Glycosylated; contains N-acetylglucosamine, probably O-linked.;Palmitoylated by ZDHHC7 and ZDHHC21. Palmitoylation is required for plasma membrane targeting and for rapid intracellular signaling via ERK and AKT kinases and cAMP generation, but not for signaling mediated by the nuclear hormone receptor.;Dimethylated by PRMT1 at Arg-260. The methylation may favor cytoplasmic localization (PubMed:18657504, PubMed:24498420). Demethylated by JMJD6 at Arg-260 (PubMed:24498420).;Phosphorylated by cyclin A/CDK2 and CK1. Phosphorylation probably enhances transcriptional activity. Self-association induces phosphorylation. Dephosphorylation at Ser-118 by PPP5C inhibits its transactivation activity. Phosphorylated by LMTK3 in vitro.;Ubiquitinated; regulated by LATS1 via DCAF1 it leads to ESR1 proteasomal degradation (PubMed:21602804, PubMed:28068668). Deubiquitinated by OTUB1 (PubMed:19383985). Belongs to the nuclear hormone receptor family. NR3 subfamily. Endocrine and other factor-regulated calcium reabsorption;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Nuclear signaling by ERBB4;Nuclear Receptor transcription pathway;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Ovarian tumor domain proteases;TFAP2 (AP-2) family regulates transcription of growth factors and their receptors;Regulation of RUNX2 expression and activity;RUNX1 regulates estrogen receptor mediated transcription;RUNX1 regulates transcription of genes involved in WNT signaling;Estrogen-dependent gene expression;SUMOylation of intracellular receptors;ESR-mediated signaling;Extra-nuclear estrogen signaling PE1 6 +NX_P03886 NADH-ubiquinone oxidoreductase chain 1 318 35661 6.11 8 Mitochondrion inner membrane Diabetes mellitus, non-insulin-dependent;Leber hereditary optic neuropathy;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Alzheimer disease mitochondrial Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). NA Belongs to the complex I subunit 1 family. Oxidative phosphorylation;Metabolic pathways;Parkinson's disease;Respiratory electron transport;Complex I biogenesis PE1 MT +NX_P03891 NADH-ubiquinone oxidoreductase chain 2 347 38961 9.84 10 Mitochondrion inner membrane Leber hereditary optic neuropathy;Alzheimer disease mitochondrial Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). NA Belongs to the complex I subunit 2 family. Oxidative phosphorylation;Metabolic pathways;Parkinson's disease;Respiratory electron transport;Complex I biogenesis PE1 MT +NX_P03897 NADH-ubiquinone oxidoreductase chain 3 115 13186 4.45 3 Mitochondrion membrane;Cytosol Leigh syndrome;Mitochondrial complex I deficiency, mitochondrial type 1 Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). NA Belongs to the complex I subunit 3 family. Oxidative phosphorylation;Metabolic pathways;Parkinson's disease;Respiratory electron transport;Complex I biogenesis PE1 MT +NX_P03901 NADH-ubiquinone oxidoreductase chain 4L 98 10741 5.73 3 Mitochondrion membrane;Mitochondrion Leber hereditary optic neuropathy Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). NA Belongs to the complex I subunit 4L family. Oxidative phosphorylation;Metabolic pathways;Parkinson's disease PE1 MT +NX_P03905 NADH-ubiquinone oxidoreductase chain 4 459 51581 9.4 11 Mitochondrion membrane Leber hereditary optic neuropathy with dystonia;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Leber hereditary optic neuropathy Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). NA Belongs to the complex I subunit 4 family. Oxidative phosphorylation;Metabolic pathways;Parkinson's disease;Respiratory electron transport;Complex I biogenesis PE1 MT +NX_P03915 NADH-ubiquinone oxidoreductase chain 5 603 67027 9.14 15 Mitochondrion inner membrane Leber hereditary optic neuropathy;Leigh syndrome;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). NA Belongs to the complex I subunit 5 family. Oxidative phosphorylation;Metabolic pathways;Parkinson's disease;Respiratory electron transport;Complex I biogenesis PE1 MT +NX_P03923 NADH-ubiquinone oxidoreductase chain 6 174 18622 4.18 6 Mitochondrion membrane Leber hereditary optic neuropathy;Leber hereditary optic neuropathy with dystonia;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Leigh syndrome Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). NA Belongs to the complex I subunit 6 family. Oxidative phosphorylation;Metabolic pathways;Parkinson's disease;Respiratory electron transport;Complex I biogenesis PE1 MT +NX_P03928 ATP synthase protein 8 68 7992 9.92 1 Mitochondrion membrane Mitochondrial complex V deficiency, mitochondrial 2;Cardiomyopathy, infantile hypertrophic Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane (By similarity). NA Belongs to the ATPase protein 8 family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Formation of ATP by chemiosmotic coupling;Cristae formation PE1 MT +NX_P03950 Angiogenin 147 16550 9.73 0 Secretory vesicle lumen;Secreted;Nucleolus;Nucleus;Cytoskeleton Amyotrophic lateral sclerosis 9 Binds to actin on the surface of endothelial cells; once bound, angiogenin is endocytosed and translocated to the nucleus. Stimulates ribosomal RNA synthesis including that containing the initiation site sequences of 45S rRNA. Cleaves tRNA within anticodon loops to produce tRNA-derived stress-induced fragments (tiRNAs) which inhibit protein synthesis and triggers the assembly of stress granules (SGs). Angiogenin induces vascularization of normal and malignant tissues. Angiogenic activity is regulated by interaction with RNH1 in vivo. NA Belongs to the pancreatic ribonuclease family. Adherens junctions interactions PE1 14 +NX_P03951 Coagulation factor XI 625 70109 8.47 0 Cytoplasmic vesicle;Secreted Factor XI deficiency Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX. Activated by factor XIIa (or XII), which cleaves each polypeptide after Arg-387 into the light chain, which contains the active site, and the heavy chain, which associates with high molecular weight (HMW) kininogen.;N-glycosylated on both chains. N-glycosylated sites mainly consist of nonfucosylated sialylated biantennary (in high abundance) and/or triantennary (in low abundance) complex structures. Glycosylation at Asn-163 uses a rare non-canonical Asn-X-Cys glycosite. Belongs to the peptidase S1 family. Plasma kallikrein subfamily. Complement and coagulation cascades;Intrinsic Pathway of Fibrin Clot Formation PE1 4 +NX_P03952 Plasma kallikrein 638 71370 8.6 0 Secreted Prekallikrein deficiency The enzyme cleaves Lys-Arg and Arg-Ser bonds. It activates, in a reciprocal reaction, factor XII after its binding to a negatively charged surface. It also releases bradykinin from HMW kininogen and may also play a role in the renin-angiotensin system by converting prorenin into renin. NA Belongs to the peptidase S1 family. Plasma kallikrein subfamily. Complement and coagulation cascades;Activation of Matrix Metalloproteinases;Intrinsic Pathway of Fibrin Clot Formation PE1 4 +NX_P03956 Interstitial collagenase 469 54007 6.47 0 Cytoplasmic vesicle;Extracellular matrix NA Cleaves collagens of types I, II, and III at one site in the helical domain. Also cleaves collagens of types VII and X (PubMed:2557822, PubMed:2153297, PubMed:1645757). In case of HIV infection, interacts and cleaves the secreted viral Tat protein, leading to a decrease in neuronal Tat's mediated neurotoxicity (PubMed:16807369). Tyrosine phosphorylated in platelets by PKDCC/VLK.;Undergoes autolytic cleavage to two major forms (22 kDa and 27 kDa). A minor form (25 kDa) is the glycosylated form of the 22 kDa form. The 27 kDa form has no activity while the 22/25 kDa form can act as activator for collagenase. Belongs to the peptidase M10A family. PPAR signaling pathway;Pathways in cancer;Bladder cancer;Rheumatoid arthritis;Degradation of the extracellular matrix;Collagen degradation;Basigin interactions;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Activation of Matrix Metalloproteinases;Interleukin-4 and Interleukin-13 signaling PE1 11 +NX_P03971 Muellerian-inhibiting factor 560 59195 7.04 0 Cytoplasmic vesicle;Cytosol;Secreted Persistent Muellerian duct syndrome 1 This glycoprotein, produced by the Sertoli cells of the testis, causes regression of the Muellerian duct. It is also able to inhibit the growth of tumors derived from tissues of Muellerian duct origin. NA Belongs to the TGF-beta family. Cytokine-cytokine receptor interaction;TGF-beta signaling pathway;Signaling by BMP PE1 19 +NX_P03973 Antileukoproteinase 132 14326 9.11 0 Golgi apparatus;Secreted NA Acid-stable proteinase inhibitor with strong affinities for trypsin, chymotrypsin, elastase, and cathepsin G (PubMed:3533531, PubMed:3462719, PubMed:2039600, PubMed:2110563, PubMed:10702419, PubMed:24121345). Modulates the inflammatory and immune responses after bacterial infection, and after infection by the intracellular parasite L.major. Down-regulates responses to bacterial lipopolysaccharide (LPS) (By similarity). Plays a role in regulating the activation of NF-kappa-B and inflammatory responses (PubMed:10702419, PubMed:24352879). Has antimicrobial activity against mycobacteria, but not against salmonella. Contributes to normal resistance against infection by M.tuberculosis. Required for normal resistance to infection by L.major. Required for normal wound healing, probably by preventing tissue damage by limiting protease activity (By similarity). Together with ELANE, required for normal differentiation and proliferation of bone marrow myeloid cells (PubMed:24352879). NA NA Neutrophil degranulation PE1 20 +NX_P03979 T cell receptor gamma variable 3 118 13664 8.97 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) gamma chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714). NA NA NA PE1 7 +NX_P03986 T cell receptor gamma constant 2 189 21698 5.95 1 Cell membrane NA Constant region of T cell receptor (TR) gamma chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:28920588, PubMed:23348415). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714). NA NA NA PE1 7 +NX_P03999 Short-wave-sensitive opsin 1 348 39135 8.91 7 Photoreceptor inner segment;Photoreceptor outer segment;Membrane;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton Tritan color blindness Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal (Probable). Required for the maintenance of cone outer segment organization in the ventral retina, but not essential for the maintenance of functioning cone photoreceptors (By similarity). Involved in ensuring correct abundance and localization of retinal membrane proteins (By similarity). May increase spectral sensitivity in dim light (By similarity). Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region. Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. G alpha (i) signalling events;The retinoid cycle in cones (daylight vision);Opsins;Retinoid cycle disease events PE1 7 +NX_P04000 Long-wave-sensitive opsin 1 364 40572 8.89 7 Membrane Blue cone monochromacy;Colorblindness, partial, protan series Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal. Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region. Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. G alpha (i) signalling events;The retinoid cycle in cones (daylight vision);Opsins;Retinoid cycle disease events PE1 X +NX_P04001 Medium-wave-sensitive opsin 1 364 40584 8.9 7 Cell membrane Colorblindness, partial, deutan series;Cone dystrophy 5;Blue cone monochromacy Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal. N-glycosylated (PubMed:30948514). O-glycosylated (PubMed:30948514).;Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.;OPN1MW is phosphorylated by GRK7 Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. G alpha (i) signalling events;The retinoid cycle in cones (daylight vision);Opsins;Retinoid cycle disease events PE1 X +NX_P04003 C4b-binding protein alpha chain 597 67033 7.15 0 Secreted NA Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component. NA NA Complement and coagulation cascades;Pertussis;Regulation of Complement cascade PE1 1 +NX_P04004 Vitronectin 478 54306 5.55 0 Endoplasmic reticulum;Cytoplasmic vesicle;Extracellular space NA Vitronectin is a cell adhesion and spreading factor found in serum and tissues. Vitronectin interact with glycosaminoglycans and proteoglycans. Is recognized by certain members of the integrin family and serves as a cell-to-substrate adhesion molecule. Inhibitor of the membrane-damaging effect of the terminal cytolytic complement pathway.;Somatomedin-B is a growth hormone-dependent serum factor with protease-inhibiting activity. It has been suggested that the active SMB domain may be permitted considerable disulfide bond heterogeneity or variability, thus two alternate disulfide patterns based on 3D structures are described with 1 disulfide bond conserved in both.;Phosphorylation sites are present in the extracellular medium.;Phosphorylation on Thr-69 and Thr-76 favors cell adhesion and spreading.;N- and O-glycosylated.;Sulfated on 2 tyrosine residues. NA Focal adhesion;ECM-receptor interaction;Syndecan interactions;Integrin cell surface interactions;Regulation of Complement cascade;ECM proteoglycans;Molecules associated with elastic fibres PE1 17 +NX_P04035 3-hydroxy-3-methylglutaryl-coenzyme A reductase 888 97476 6.33 7 Endoplasmic reticulum membrane NA Transmembrane glycoprotein that is the rate-limiting enzyme in cholesterol biosynthesis as well as in the biosynthesis of nonsterol isoprenoids that are essential for normal cell function including ubiquinone and geranylgeranyl proteins. N-glycosylated. Deglycosylated by NGLY1 on release from the endoplasmic reticulum (ER) in a sterol-mediated manner.;Undergoes sterol-mediated ubiquitination and ER-associated degradation (ERAD). Accumulation of sterols in the endoplasmic reticulum (ER) membrane, triggers binding of the reductase to the ER membrane protein INSIG1. This INSIG1 binding leads to the recruitment of the ubiquitin ligase, AMFR/gp78 or RNF145, initiating ubiquitination of the reductase. The ubiquitinated reductase is then extracted from the ER membrane and delivered to cytosolic 26S proteosomes by a mechanism probably mediated by the ATPase Valosin-containing protein VCP/p97. Lys-248 is the main site of ubiquitination. Ubiquitination is enhanced by the presence of a geranylgeranylated protein. Belongs to the HMG-CoA reductase family. Metabolic intermediate biosynthesis; (R)-mevalonate biosynthesis; (R)-mevalonate from acetyl-CoA: step 3/3.;Terpenoid backbone biosynthesis;Metabolic pathways;Bile secretion;PPARA activates gene expression;Cholesterol biosynthesis;Activation of gene expression by SREBF (SREBP) PE1 5 +NX_P04040 Catalase 527 59756 6.9 0 Peroxisome;Cytoplasmic vesicle Acatalasemia Occurs in almost all aerobically respiring organisms and serves to protect cells from the toxic effects of hydrogen peroxide. Promotes growth of cells including T-cells, B-cells, myeloid leukemia cells, melanoma cells, mastocytoma cells and normal and transformed fibroblast cells. The N-terminus is blocked. Belongs to the catalase family. Tryptophan metabolism;Metabolic pathways;Peroxisome;Amyotrophic lateral sclerosis (ALS);Detoxification of Reactive Oxygen Species;Neutrophil degranulation;Peroxisomal protein import;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 11 +NX_P04049 RAF proto-oncogene serine/threonine-protein kinase 648 73052 9.33 0 Cytoplasm;Nucleus speckle;Mitochondrion;Cell membrane;Nucleus LEOPARD syndrome 2;Noonan syndrome 5;Cardiomyopathy, dilated 1NN Serine/threonine-protein kinase that acts as a regulatory link between the membrane-associated Ras GTPases and the MAPK/ERK cascade, and this critical regulatory link functions as a switch determining cell fate decisions including proliferation, differentiation, apoptosis, survival and oncogenic transformation. RAF1 activation initiates a mitogen-activated protein kinase (MAPK) cascade that comprises a sequential phosphorylation of the dual-specific MAPK kinases (MAP2K1/MEK1 and MAP2K2/MEK2) and the extracellular signal-regulated kinases (MAPK3/ERK1 and MAPK1/ERK2). The phosphorylated form of RAF1 (on residues Ser-338 and Ser-339, by PAK1) phosphorylates BAD/Bcl2-antagonist of cell death at 'Ser-75'. Phosphorylates adenylyl cyclases: ADCY2, ADCY5 and ADCY6, resulting in their activation. Phosphorylates PPP1R12A resulting in inhibition of the phosphatase activity. Phosphorylates TNNT2/cardiac muscle troponin T. Can promote NF-kB activation and inhibit signal transducers involved in motility (ROCK2), apoptosis (MAP3K5/ASK1 and STK3/MST2), proliferation and angiogenesis (RB1). Can protect cells from apoptosis also by translocating to the mitochondria where it binds BCL2 and displaces BAD/Bcl2-antagonist of cell death. Regulates Rho signaling and migration, and is required for normal wound healing. Plays a role in the oncogenic transformation of epithelial cells via repression of the TJ protein, occludin (OCLN) by inducing the up-regulation of a transcriptional repressor SNAI2/SLUG, which induces down-regulation of OCLN. Restricts caspase activation in response to selected stimuli, notably Fas stimulation, pathogen-mediated macrophage apoptosis, and erythroid differentiation. Methylated at Arg-563 in response to EGF treatment. This modification leads to destabilization of the protein, possibly through proteasomal degradation.;Phosphorylation at Thr-269, Ser-338, Tyr-341, Thr-491 and Ser-494 results in its activation. Phosphorylation at Ser-29, Ser-43, Ser-289, Ser-296, Ser-301 and Ser-642 by MAPK1/ERK2 results in its inactivation. Phosphorylation at Ser-259 induces the interaction with YWHAZ and inactivates kinase activity. Dephosphorylation of Ser-259 by the complex containing protein phosphatase 1, SHOC2 and M-Ras/MRAS relieves inactivation, leading to stimulate RAF1 activity. Phosphorylation at Ser-338 by PAK1 and PAK5 and Ser-339 by PAK1 is required for its mitochondrial localization. Phosphorylation at Ser-621 in response to growth factor treatment stabilizes the protein, possibly by preventing proteasomal degradation. Phosphorylation at Ser-289, Ser-296, Ser-301, Ser-338 and Ser-621 are somehow linked to the methylation potential of cells. Treatment of cells with HGF in the presence of the methylation inhibitor 5'-methylthioadenosine (MTA) results in increased phosphorylation at Ser-338 and Ser-621 and decreased phosphorylation at Ser-296, Ser-301 and Ser-338. Dephosphorylation at Ser-338 by PPP5C results in an activity decrease.;RAF1 is phosphorylated by PDGFRB (Phosphotyrosine:PTM-0255);RAF1 is phosphorylated by JAK2 (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily. MAPK signaling pathway;ErbB signaling pathway;Chemokine signaling pathway;Vascular smooth muscle contraction;VEGF signaling pathway;Focal adhesion;Gap junction;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Long-term potentiation;Neurotrophin signaling pathway;Long-term depression;Regulation of actin cytoskeleton;Insulin signaling pathway;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;Tuberculosis;Hepatitis C;Influenza A;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer;Stimuli-sensing channels;Negative regulation of MAPK pathway;RAF activation;MAP2K and MAPK activation;CD209 (DC-SIGN) signaling;GP1b-IX-V activation signalling;Negative feedback regulation of MAPK pathway;Rap1 signalling;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 3 +NX_P04053 DNA nucleotidylexotransferase 509 58536 8.66 0 Nucleoplasm;Cytosol;Nucleus NA Template-independent DNA polymerase which catalyzes the random addition of deoxynucleoside 5'-triphosphate to the 3'-end of a DNA initiator. One of the in vivo functions of this enzyme is the addition of nucleotides at the junction (N region) of rearranged Ig heavy chain and T-cell receptor gene segments during the maturation of B- and T-cells. NA Belongs to the DNA polymerase type-X family. Non-homologous end-joining;Hematopoietic cell lineage PE1 10 +NX_P04054 Phospholipase A2 148 16360 8.16 0 Secreted NA PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides, this releases glycerophospholipids and arachidonic acid that serve as the precursors of signal molecules. Activated by trypsin cleavage in the duodenum. Can also be activated by thrombin or autocatalytically. Belongs to the phospholipase A2 family. Glycerophospholipid metabolism;Ether lipid metabolism;Arachidonic acid metabolism;Linoleic acid metabolism;alpha-Linolenic acid metabolism;Metabolic pathways;MAPK signaling pathway;Vascular smooth muscle contraction;VEGF signaling pathway;Fc epsilon RI signaling pathway;Glutamatergic synapse;Long-term depression;GnRH signaling pathway;Pancreatic secretion;Fat digestion and absorption;Toxoplasmosis;Synthesis of PA;Acyl chain remodelling of PG;Acyl chain remodelling of PC;Acyl chain remodelling of PS;Acyl chain remodelling of PE;Acyl chain remodelling of PI PE1 12 +NX_P04062 Lysosomal acid glucosylceramidase 536 59716 7.29 0 Lysosome membrane Parkinson disease;Gaucher disease 3C;Gaucher disease;Gaucher disease perinatal lethal;Gaucher disease 2;Gaucher disease 3;Gaucher disease 1 Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose (PubMed:9201993, PubMed:24211208). Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes (PubMed:27378698). Through the production of ceramides, participates to the PKC-activated salvage pathway of ceramide formation (PubMed:19279011). Also plays a role in cholesterol metabolism (PubMed:24211208, PubMed:26724485). May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol (PubMed:24211208, PubMed:26724485). The short chain saturated C8:0-GlcCer and the mono-unsaturated C18:0-GlcCer being the most effective glucose donors for that transglucosylation reaction (PubMed:24211208). Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide (PubMed:26724485). Finally, may also hydrolyze cholesteryl-beta-D-glucoside to produce D-glucose and cholesterol (PubMed:24211208, PubMed:26724485). NA Belongs to the glycosyl hydrolase 30 family. Steroid metabolism; cholesterol metabolism.;Sphingolipid metabolism.;Other glycan degradation;Sphingolipid metabolism;Metabolic pathways;Lysosome;Glycosphingolipid metabolism;Association of TriC/CCT with target proteins during biosynthesis PE1 1 +NX_P04066 Tissue alpha-L-fucosidase 466 53689 6.37 0 Lysosome Fucosidosis Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. NA Belongs to the glycosyl hydrolase 29 family. Other glycan degradation;Lysosome;Reactions specific to the complex N-glycan synthesis pathway;Neutrophil degranulation PE1 1 +NX_P04070 Vitamin K-dependent protein C 461 52071 5.85 0 Endoplasmic reticulum;Golgi apparatus;Secreted Thrombophilia due to protein C deficiency, autosomal recessive;Thrombophilia due to protein C deficiency, autosomal dominant Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating factors Va and VIIIa in the presence of calcium ions and phospholipids (PubMed:25618265). Exerts a protective effect on the endothelial cell barrier function (PubMed:25651845). The vitamin K-dependent, enzymatic carboxylation of some Glu residues allows the modified protein to bind calcium.;The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.;N- and O-glycosylated. Partial (70%) N-glycosylation of Asn-371 with an atypical N-X-C site produces a higher molecular weight form referred to as alpha. The lower molecular weight form, not N-glycosylated at Asn-371, is beta. O-glycosylated with core 1 or possibly core 8 glycans.;May be phosphorylated on a Ser or Thr in a region (AA 25-30) of the propeptide. Belongs to the peptidase S1 family. Complement and coagulation cascades;Common Pathway of Fibrin Clot Formation;Cell surface interactions at the vascular wall;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Intrinsic Pathway of Fibrin Clot Formation;Gamma-carboxylation of protein precursors;Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus;Removal of aminoterminal propeptides from gamma-carboxylated proteins;Post-translational protein phosphorylation PE1 2 +NX_P04075 Fructose-bisphosphate aldolase A 364 39420 8.3 0 I band;Cytosol;M line;Nucleus Glycogen storage disease 12 Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity). ALDOA is phosphorylated by MAPK3 Belongs to the class I fructose-bisphosphate aldolase family. Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 4/4.;Glycolysis / Gluconeogenesis;Pentose phosphate pathway;Fructose and mannose metabolism;Metabolic pathways;Glycolysis;Platelet degranulation;Gluconeogenesis;Neutrophil degranulation PE1 16 +NX_P04080 Cystatin-B 98 11140 6.96 0 Nucleolus;Cytoplasm;Cytosol;Nucleus Epilepsy, progressive myoclonic 1 This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B. NA Belongs to the cystatin family. Neutrophil degranulation PE1 21 +NX_P04083 Annexin A1 346 38714 6.57 0 Extracellular exosome;Cytoplasm;Lateral cell membrane;Cell membrane;Secretory vesicle lumen;Apical cell membrane;Early endosome;Basolateral cell membrane;Endosome membrane;Cilium;Secreted;Membrane;Cytoplasmic vesicle membrane;Nucleoplasm;Phagocytic cup;Extracellular space;Cytosol;Nucleus NA Plays important roles in the innate immune response as effector of glucocorticoid-mediated responses and regulator of the inflammatory process. Has anti-inflammatory activity (PubMed:8425544). Plays a role in glucocorticoid-mediated down-regulation of the early phase of the inflammatory response (By similarity). Promotes resolution of inflammation and wound healing (PubMed:25664854). Functions at least in part by activating the formyl peptide receptors and downstream signaling cascades (PubMed:15187149, PubMed:25664854). Promotes chemotaxis of granulocytes and monocytes via activation of the formyl peptide receptors (PubMed:15187149). Contributes to the adaptive immune response by enhancing signaling cascades that are triggered by T-cell activation, regulates differentiation and proliferation of activated T-cells (PubMed:17008549). Promotes the differentiation of T-cells into Th1 cells and negatively regulates differentiation into Th2 cells (PubMed:17008549). Has no effect on unstimulated T cells (PubMed:17008549). Promotes rearrangement of the actin cytoskeleton, cell polarization and cell migration (PubMed:15187149). Negatively regulates hormone exocytosis via activation of the formyl peptide receptors and reorganization of the actin cytoskeleton (PubMed:19625660). Has high affinity for Ca(2+) and can bind up to eight Ca(2+) ions (By similarity). Displays Ca(2+)-dependent binding to phospholipid membranes (PubMed:2532504, PubMed:8557678). Plays a role in the formation of phagocytic cups and phagosomes. Plays a role in phagocytosis by mediating the Ca(2+)-dependent interaction between phagosomes and the actin cytoskeleton (By similarity). Sumoylated.;Phosphorylated by protein kinase C, EGFR and TRPM7 (PubMed:2457390, PubMed:15485879). Phosphorylated in response to EGF treatment (PubMed:2532504). Belongs to the annexin family. G alpha (i) signalling events;G alpha (q) signalling events;Formyl peptide receptors bind formyl peptides and many other ligands;Smooth Muscle Contraction;Interleukin-4 and Interleukin-13 signaling PE1 9 +NX_P04085 Platelet-derived growth factor subunit A 211 24043 9.52 0 Cytoplasmic vesicle;Centriolar satellite;Secreted NA Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Required for normal lung alveolar septum formation during embryogenesis, normal development of the gastrointestinal tract, normal development of Leydig cells and spermatogenesis. Required for normal oligodendrocyte development and normal myelination in the spinal cord and cerebellum. Plays an important role in wound healing. Signaling is modulated by the formation of heterodimers with PDGFB (By similarity). NA Belongs to the PDGF/VEGF growth factor family. MAPK signaling pathway;Cytokine-cytokine receptor interaction;Focal adhesion;Gap junction;Regulation of actin cytoskeleton;HTLV-I infection;Pathways in cancer;Glioma;Prostate cancer;Melanoma;RAF/MAP kinase cascade;Signaling by PDGF;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Platelet degranulation;Non-integrin membrane-ECM interactions;Downstream signal transduction;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 7 +NX_P04090 Prorelaxin H2 185 21043 8.88 0 Secreted NA Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix. NA Belongs to the insulin family. Relaxin receptors;G alpha (s) signalling events PE1 9 +NX_P04114 Apolipoprotein B-100 4563 515605 6.58 0 Cytoplasmic vesicle;Cytosol;Cytoplasm;Secreted Familial ligand-defective apolipoprotein B-100;Hypobetalipoproteinemia, familial, 1 Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor. Palmitoylated; structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle. NA Fat digestion and absorption;Vitamin digestion and absorption;Retinoid metabolism and transport;Cell surface interactions at the vascular wall;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Scavenging by Class A Receptors;Platelet sensitization by LDL;Scavenging by Class F Receptors;Scavenging by Class B Receptors;Scavenging by Class H Receptors;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Regulation of TLR by endogenous ligand;VLDL assembly;Post-translational protein phosphorylation;LDL clearance;Chylomicron clearance;LDL remodeling;Chylomicron remodeling;Chylomicron assembly;VLDL clearance PE1 2 +NX_P04118 Colipase 112 11954 7.48 0 Secreted NA Enterostatin has a biological activity as a satiety signal.;Colipase is a cofactor of pancreatic lipase. It allows the lipase to anchor itself to the lipid-water interface. Without colipase the enzyme is washed off by bile salts, which have an inhibitory effect on the lipase. NA Belongs to the colipase family. Fat digestion and absorption;Retinoid metabolism and transport;Digestion of dietary lipid PE1 6 +NX_P04141 Granulocyte-macrophage colony-stimulating factor 144 16295 5.21 0 Cytoplasmic vesicle;Secreted NA Cytokine that stimulates the growth and differentiation of hematopoietic precursor cells from various lineages, including granulocytes, macrophages, eosinophils and erythrocytes. NA Belongs to the GM-CSF family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Hematopoietic cell lineage;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;Fc epsilon RI signaling pathway;Salmonella infection;Amoebiasis;HTLV-I infection;Rheumatoid arthritis;RAF/MAP kinase cascade;Interleukin receptor SHC signaling;Interleukin-3, Interleukin-5 and GM-CSF signaling;Interleukin-10 signaling;RUNX1 regulates transcription of genes involved in differentiation of myeloid cells PE1 5 +NX_P04150 Glucocorticoid receptor 777 85659 6 0 Cytoplasm;Mitochondrion;Nucleoplasm;Centrosome;Cytosol;Spindle;Nucleus Glucocorticoid resistance, generalized Has transcriptional activation activity.;Has transcriptional activation activity.;Has lowest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, PubMed:23820903). Has transcriptional repression activity (PubMed:23303127).;Has transcriptional activation activity.;More effective than isoform Alpha in transcriptional activation, but not repression activity.;Has transcriptional activation activity.;Has lower transcriptional activation activity than isoform Alpha. Exerts a dominant negative effect on isoform Alpha trans-repression mechanism (PubMed:20484466).;Has highest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, PubMed:23820903). Has transcriptional repression activity (PubMed:23303127). Mediates glucocorticoid-induced apoptosis (PubMed:23303127, PubMed:23820903).;Acts as a dominant negative inhibitor of isoform Alpha (PubMed:7769088, PubMed:8621628, PubMed:20484466). Has intrinsic transcriptional activity independent of isoform Alpha when both isoforms are coexpressed (PubMed:19248771, PubMed:26711253). Loses this transcription modulator function on its own (PubMed:20484466). Has no hormone-binding activity (PubMed:8621628). May play a role in controlling glucose metabolism by maintaining insulin sensitivity (By similarity). Reduces hepatic gluconeogenesis through down-regulation of PEPCK in an isoform Alpha-dependent manner (PubMed:26711253). Directly regulates STAT1 expression in isoform Alpha-independent manner (PubMed:26711253).;Has transcriptional activation and repression activity (PubMed:15866175, PubMed:19248771, PubMed:20484466, PubMed:23820903, PubMed:11435610, PubMed:15769988, PubMed:17635946, PubMed:19141540, PubMed:21664385). Mediates glucocorticoid-induced apoptosis (PubMed:23303127). Promotes accurate chromosome segregation during mitosis (PubMed:25847991). May act as a tumor suppressor (PubMed:25847991). May play a negative role in adipogenesis through the regulation of lipolytic and antilipogenic gene expression (By similarity).;Has transcriptional activation activity.;Receptor for glucocorticoids (GC) (PubMed:27120390). Has a dual mode of action: as a transcription factor that binds to glucocorticoid response elements (GRE), both for nuclear and mitochondrial DNA, and as a modulator of other transcription factors. Affects inflammatory responses, cellular proliferation and differentiation in target tissues. Involved in chromatin remodeling (PubMed:9590696). Plays a role in rapid mRNA degradation by binding to the 5' UTR of target mRNAs and interacting with PNRC2 in a ligand-dependent manner which recruits the RNA helicase UPF1 and the mRNA-decapping enzyme DCP1A, leading to RNA decay (PubMed:25775514). Could act as a coactivator for STAT5-dependent transcription upon growth hormone (GH) stimulation and could reveal an essential role of hepatic GR in the control of body growth (By similarity). Increased proteasome-mediated degradation in response to glucocorticoids (PubMed:11555652).;Ubiquitinated; restricts glucocorticoid-mediated transcriptional signaling.;Sumoylation at Lys-277 and Lys-293 negatively regulates its transcriptional activity (PubMed:12144530). Sumoylation at Lys-703 positively regulates its transcriptional activity in the presence of RWDD3 (By similarity). Sumoylation at Lys-277 and Lys-293 is dispensable whereas sumoylation at Lys-703 is critical for the stimulatory effect of RWDD3 on its transcriptional activity (By similarity). Heat shock increases sumoylation in a RWDD3-dependent manner (By similarity).;Appears to be more susceptible to proteolytic degradation than isoform Alpha (PubMed:11435610).;Acetylation by CLOCK reduces its binding to glucocorticoid response elements and its transcriptional activity.;Phosphorylated in the absence of hormone; becomes hyperphosphorylated in the presence of glucocorticoid. The Ser-203, Ser-226 and Ser-404-phosphorylated forms are mainly cytoplasmic, and the Ser-211-phosphorylated form is nuclear (PubMed:12000743, PubMed:18838540). Phosphorylation at Ser-211 increases transcriptional activity (PubMed:12000743, PubMed:18483179). Phosphorylation at Ser-203, Ser-226 and Ser-404 decreases signaling capacity (PubMed:12000743, PubMed:18483179, PubMed:18838540). Phosphorylation at Ser-404 may protect from glucocorticoid-induced apoptosis (PubMed:18838540). Phosphorylation at Ser-203 and Ser-211 is not required in regulation of chromosome segregation (PubMed:25847991). May be dephosphorylated by PPP5C, attenuates NR3C1 action (By similarity). Belongs to the nuclear hormone receptor family. NR3 subfamily. Neuroactive ligand-receptor interaction;Circadian Clock;Nuclear Receptor transcription pathway;PTK6 Expression;HSP90 chaperone cycle for steroid hormone receptors (SHR);Regulation of RUNX2 expression and activity;SUMOylation of intracellular receptors;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 5 +NX_P04155 Trefoil factor 1 84 9150 4.29 0 Secreted NA Stabilizer of the mucous gel overlying the gastrointestinal mucosa that provides a physical barrier against various noxious agents. May inhibit the growth of calcium oxalate crystals in urine. NA NA Estrogen-dependent gene expression PE1 21 +NX_P04156 Major prion protein 253 27661 9.13 0 Golgi apparatus;Cell membrane;Nucleus membrane;Cytoplasmic vesicle;Cytosol Fatal familial insomnia;Huntington disease-like 1;Gerstmann-Straussler disease;Spongiform encephalopathy with neuropsychiatric features;Kuru;Creutzfeldt-Jakob disease Its primary physiological function is unclear. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May promote myelin homeostasis through acting as an agonist for ADGRG6 receptor. May play a role in iron uptake and iron homeostasis. Soluble oligomers are toxic to cultured neuroblastoma cells and induce apoptosis (in vitro) (By similarity). Association with GPC1 (via its heparan sulfate chains) targets PRNP to lipid rafts. Also provides Cu(2+) or ZN(2+) for the ascorbate-mediated GPC1 deaminase degradation of its heparan sulfate side chains (By similarity). The glycosylation pattern (the amount of mono-, di- and non-glycosylated forms or glycoforms) seems to differ in normal and CJD prion. Belongs to the prion family. Prion diseases;NCAM1 interactions;Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 20 +NX_P04179 Superoxide dismutase [Mn], mitochondrial 222 24750 8.35 0 Mitochondrion matrix Microvascular complications of diabetes 6 Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems. Acetylation at Lys-122 decreases enzymatic activity. Deacetylated by SIRT3 upon exposure to ionizing radiations or after long fasting (By similarity).;Nitrated under oxidative stress. Nitration coupled with oxidation inhibits the catalytic activity.;Polyubiquitinated; leading to proteasomal degradation. Deubiquitinated by USP36 which increases protein stability. Belongs to the iron/manganese superoxide dismutase family. Peroxisome;Huntington's disease;Detoxification of Reactive Oxygen Species;Transcriptional activation of mitochondrial biogenesis;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 6 +NX_P04180 Phosphatidylcholine-sterol acyltransferase 440 49578 5.71 0 Nucleoplasm;Secreted Fish-eye disease;Lecithin-cholesterol acyltransferase deficiency Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs) (PubMed:10329423, PubMed:19065001, PubMed:26195816). The cholesterol ester is then transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines (PubMed:8820107). Also produced in the brain by primary astrocytes, and esterifies free cholesterol on nascent APOE-containing lipoproteins secreted from glia and influences cerebral spinal fluid (CSF) APOE- and APOA1 levels. Together with APOE and the cholesterol transporter ABCA1, plays a key role in the maturation of glial-derived, nascent lipoproteins. Required for remodeling high-density lipoprotein particles into their spherical forms (PubMed:10722751). O- and N-glycosylated. O-glycosylation on Thr-431 and Ser-433 consists of sialylated galactose beta 1-->3N-acetylgalactosamine structures. N-glycosylated sites contain sialylated triantennary and/or biantennary complex structures. Belongs to the AB hydrolase superfamily. Lipase family. Glycerophospholipid metabolism;HDL remodeling PE1 16 +NX_P04181 Ornithine aminotransferase, mitochondrial 439 48535 6.57 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion Hyperornithinemia with gyrate atrophy of choroid and retina NA NA Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family. Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-ornithine: step 1/1.;Arginine and proline metabolism;Metabolic pathways;Glutamate and glutamine metabolism PE1 10 +NX_P04183 Thymidine kinase, cytosolic 234 25469 8.85 0 Cytoplasm NA NA Phosphorylated on Ser-13 in mitosis. Belongs to the thymidine kinase family. Pyrimidine metabolism;Drug metabolism - other enzymes;Metabolic pathways;G1/S-Specific Transcription;Pyrimidine salvage PE1 17 +NX_P04196 Histidine-rich glycoprotein 525 59578 7.09 0 Secreted Thrombophilia due to histidine-rich glycoprotein deficiency Plasma glycoprotein that binds a number of ligands such as heme, heparin, heparan sulfate, thrombospondin, plasminogen, and divalent metal ions. Binds heparin and heparin/glycosaminoglycans in a zinc-dependent manner. Binds heparan sulfate on the surface of liver, lung, kidney and heart endothelial cells. Binds to N-sulfated polysaccharide chains on the surface of liver endothelial cells. Inhibits rosette formation. Acts as an adapter protein and is implicated in regulating many processes such as immune complex and pathogen clearance, cell chemotaxis, cell adhesion, angiogenesis, coagulation and fibrinolysis. Mediates clearance of necrotic cells through enhancing the phagocytosis of necrotic cells in a heparan sulfate-dependent pathway. This process can be regulated by the presence of certain HRG ligands such as heparin and zinc ions. Binds to IgG subclasses of immunoglobins containing kappa and lambda light chains with different affinities regulating their clearance and inhibiting the formation of insoluble immune complexes. Tethers plasminogen to the cell surface. Binds T-cells and alters the cell morphology. Modulates angiogenesis by blocking the CD6-mediated antiangiongenic effect of thrombospondins, THBS1 and THBS2. Acts as a regulator of the vascular endothelial growth factor (VEGF) signaling pathway; inhibits endothelial cell motility by reducing VEGF-induced complex formation between PXN/paxillin and ILK/integrin-linked protein kinase and by promoting inhibition of VEGF-induced tyrosine phosphorylation of focal adhesion kinases and alpha-actinins in endothelial cells. Also plays a role in the regulation of tumor angiogenesis and tumor immune surveillance. Normalizes tumor vessels and promotes antitumor immunity by polarizing tumor-associated macrophages, leading to decreased tumor growth and metastasis. N-glycosylated.;Proteolytic cleavage produces several HRG fragments which are mostly disulfide-linked and, therefore, not released. Cleavage by plasmin is inhibited in the presence of heparin, zinc ions or in an acidic environment. Cleavage reduces binding of HRG to heparan sulfate, but enhances the ability of HRG to bind and tether plasminogen to the cell surface. On platelet activation, releases a 33 kDa antiangiogenic peptide which encompasses the HRR. Also cleaved in the C-terminal by plasmin. NA Platelet degranulation;Dissolution of Fibrin Clot PE1 3 +NX_P04198 N-myc proto-oncogene protein 464 49561 5.45 0 Nucleoplasm;Nucleolus;Nucleus Feingold syndrome 1 Positively regulates the transcription of MYCNOS in neuroblastoma cells. Phosphorylated by GSK3-beta which may promote its degradation (PubMed:24391509). Phosphorylated by AURKA (PubMed:27837025). NA NA PE1 2 +NX_P04201 Proto-oncogene Mas 325 37465 8.9 7 Cell membrane NA Receptor for angiotensin 1-7 (By similarity). Acts specifically as a functional antagonist of AGTR1 (angiotensin-2 type 1 receptor), although it up-regulates AGTR1 receptor levels. Positive regulation of AGTR1 levels occurs through activation of the G-proteins GNA11 and GNAQ, and stimulation of the protein kinase C signaling cascade. The antagonist effect on AGTR1 function is probably due to AGTR1 being physically altered by MAS1. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Renin-angiotensin system PE1 6 +NX_P04211 Immunoglobulin lambda variable 7-43 117 12451 6.52 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P04216 Thy-1 membrane glycoprotein 161 17935 8.96 0 Endoplasmic reticulum;Nucleoplasm;Cell membrane NA May play a role in cell-cell or cell-ligand interactions during synaptogenesis and other events in the brain. NA NA Leukocyte transendothelial migration;Post-translational modification: synthesis of GPI-anchored proteins PE1 11 +NX_P04217 Alpha-1B-glycoprotein 495 54254 5.56 0 Secreted NA NA NA NA Platelet degranulation;Neutrophil degranulation PE1 19 +NX_P04229 HLA class II histocompatibility antigen, DRB1-1 beta chain 266 29914 7.61 1 Endoplasmic reticulum membrane;Cell membrane;Endosome membrane;Lysosome membrane;trans-Golgi network membrane;Late endosome membrane Sarcoidosis 1 (Microbial infection) Acts as a receptor for Epstein-Barr virus on lymphocytes.;Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route; where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and efficient peptide loading. Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II. Belongs to the MHC class II family. MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_P04233 HLA class II histocompatibility antigen gamma chain 296 33516 8.72 1 trans-Golgi network;Golgi apparatus;Endoplasmic reticulum membrane;Cell membrane;Endosome;Lysosome NA Plays a critical role in MHC class II antigen processing by stabilizing peptide-free class II alpha/beta heterodimers in a complex soon after their synthesis and directing transport of the complex from the endoplasmic reticulum to the endosomal/lysosomal system where the antigen processing and binding of antigenic peptides to MHC class II takes place. Serves as cell surface receptor for the cytokine MIF. N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. NA Antigen processing and presentation;Tuberculosis;Herpes simplex infection;MHC class II antigen presentation;Cell surface interactions at the vascular wall PE1 5 +NX_P04234 T-cell surface glycoprotein CD3 delta chain 171 18930 5.3 1 Cell membrane Immunodeficiency 19 Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098). In addition of this role of signal transduction in T-cell activation, CD3D plays an essential role in thymocyte differentiation. Indeed, participates in correct intracellular TCR-CD3 complex assembly and surface expression. In absence of a functional TCR-CD3 complex, thymocytes are unable to differentiate properly. Interacts with CD4 and CD8 and thus serves to establish a functional link between the TCR and coreceptors CD4 and CD8, which is needed for activation and positive selection of CD4 or CD8 T-cells(PubMed:12215456). Phosphorylated on Tyr residues after T-cell receptor triggering by LCK in association with CD4/CD8. NA Hematopoietic cell lineage;T cell receptor signaling pathway;Chagas disease (American trypanosomiasis);Measles;HTLV-I infection;Primary immunodeficiency;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 11 +NX_P04259 Keratin, type II cytoskeletal 6B 564 60067 8.09 0 NA Pachyonychia congenita 4 NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_P04264 Keratin, type II cytoskeletal 1 644 66039 8.15 0 Cell membrane Keratoderma, palmoplantar, striate 3;Ichthyosis hystrix, Curth-Macklin type;Keratoderma, palmoplantar, non-epidermolytic;Ichthyosis annular epidermolytic;Epidermolytic hyperkeratosis May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK. Undergoes deimination of some arginine residues (citrullination). Belongs to the intermediate filament family. Neutrophil degranulation;Formation of the cornified envelope;Keratinization PE1 12 +NX_P04271 Protein S100-B 92 10713 4.57 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA Weakly binds calcium but binds zinc very tightly-distinct binding sites with different affinities exist for both ions on each monomer. Physiological concentrations of potassium ion antagonize the binding of both divalent cations, especially affecting high-affinity calcium-binding sites. Binds to and initiates the activation of STK38 by releasing autoinhibitory intramolecular interactions within the kinase. Interaction with AGER after myocardial infarction may play a role in myocyte apoptosis by activating ERK1/2 and p53/TP53 signaling. Could assist ATAD3A cytoplasmic processing, preventing aggregation and favoring mitochondrial localization. May mediate calcium-dependent regulation on many physiological processes by interacting with other proteins, such as TPR-containing proteins, and modulating their activity. NA Belongs to the S-100 family. Advanced glycosylation endproduct receptor signaling;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated NF-kB activation;Nuclear signaling by ERBB4 PE1 21 +NX_P04275 von Willebrand factor 2813 309265 5.29 0 Extracellular matrix;Secreted von Willebrand disease 2;von Willebrand disease 1;von Willebrand disease 3 Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma. N- and O-glycosylated.;All cysteine residues are involved in intrachain or interchain disulfide bonds. NA Focal adhesion;ECM-receptor interaction;Complement and coagulation cascades;MAP2K and MAPK activation;Integrin cell surface interactions;Platelet degranulation;Platelet Adhesion to exposed collagen;Integrin alphaIIb beta3 signaling;Intrinsic Pathway of Fibrin Clot Formation;GP1b-IX-V activation signalling;Platelet Aggregation (Plug Formation);GRB2:SOS provides linkage to MAPK signaling for Integrins;p130Cas linkage to MAPK signaling for integrins;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 12 +NX_P04278 Sex hormone-binding globulin 402 43779 6.22 0 Secreted NA Functions as an androgen transport protein, but may also be involved in receptor mediated processes. Each dimer binds one molecule of steroid. Specific for 5-alpha-dihydrotestosterone, testosterone, and 17-beta-estradiol. Regulates the plasma metabolic clearance rate of steroid hormones by controlling their plasma concentration. Variant Asn-356 contains one N-linked (GlcNAc...) at position 356. NA NA PE1 17 +NX_P04279 Semenogelin-1 462 52131 9.3 0 Secreted NA Alpha-inhibin-92 and alpha-inhibin-31, derived from the proteolytic degradation of semenogelin, inhibit the secretion of pituitary follicle-stimulating hormone.;Predominant protein in semen. It participates in the formation of a gel matrix entrapping the accessory gland secretions and ejaculated spermatozoa. Fragments of semenogelin and/or fragments of the related proteins may contribute to the activation of progressive sperm movements as the gel-forming proteins are fragmented by KLK3/PSA. Rapidly cleaved after ejaculation by KLK3/PSA, resulting in liquefaction of the semen coagulum and the progressive release of motile spermatozoa.;Transglutaminase substrate. Belongs to the semenogelin family. Amyloid fiber formation;Antimicrobial peptides PE1 20 +NX_P04280 Basic salivary proline-rich protein 1 392 38562 11.22 0 Secreted NA NA Proteolytically cleaved at the tripeptide Xaa-Pro-Gln, where Xaa in the P(3) position is mostly lysine. The endoprotease may be of microbial origin.;O-glycosylated. O-glycosylation on Ser-87 is prevalent in head and neck cancer patients. O-Glycosylation on Ser-330 has a 5 times prevalence in head and neck cancers.;Pyroglutamate formation occurs on terminal Gln residues of cleaved peptides. Besides on the N-terminal of mature PBR1, pyroglutamate formation found on at least Gln-58. NA Salivary secretion PE1 12 +NX_P04350 Tubulin beta-4A chain 444 49586 4.78 0 Cytoskeleton Leukodystrophy, hypomyelinating, 6;Dystonia 4, torsion, autosomal dominant Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).;Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.;Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866). Belongs to the tubulin family. Phagosome;Gap junction;Pathogenic Escherichia coli infection;Separation of Sister Chromatids;Anchoring of the basal body to the plasma membrane;MHC class II antigen presentation;Intraflagellar transport;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Hedgehog 'off' state;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Post-chaperonin tubulin folding pathway;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;AURKA Activation by TPX2;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 19 +NX_P04406 Glyceraldehyde-3-phosphate dehydrogenase 335 36053 8.57 0 Cytoplasm;Cell membrane;Nucleus membrane;Membrane;Cytoplasmic vesicle;Cytosol;Perinuclear region;Nucleus;Cytoskeleton NA Has both glyceraldehyde-3-phosphate dehydrogenase and nitrosylase activities, thereby playing a role in glycolysis and nuclear functions, respectively. Participates in nuclear events including transcription, RNA transport, DNA replication and apoptosis. Nuclear functions are probably due to the nitrosylase activity that mediates cysteine S-nitrosylation of nuclear target proteins such as SIRT1, HDAC2 and PRKDC. Modulates the organization and assembly of the cytoskeleton. Facilitates the CHP1-dependent microtubule and membrane associations through its ability to stimulate the binding of CHP1 to microtubules (By similarity). Glyceraldehyde-3-phosphate dehydrogenase is a key enzyme in glycolysis that catalyzes the first step of the pathway by converting D-glyceraldehyde 3-phosphate (G3P) into 3-phospho-D-glyceroyl phosphate. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes. Upon interferon-gamma treatment assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation. Succination of Cys-152 and Cys-247 by the Krebs cycle intermediate fumarate, which leads to S-(2-succinyl)cysteine residues, inhibits glyceraldehyde-3-phosphate dehydrogenase activity. Fumarate concentration as well as succination of cysteine residues in GAPDH is significantly increased in muscle of diabetic mammals. It was proposed that the S-(2-succinyl)cysteine chemical modification may be a useful biomarker of mitochondrial and oxidative stress in diabetes and that succination of GAPDH and other thiol proteins by fumarate may contribute to the metabolic changes underlying the development of diabetes complications.;ISGylated.;Sulfhydration at Cys-152 increases catalytic activity.;Oxidative stress can promote the formation of high molecular weight disulfide-linked GAPDH aggregates, through a process called nucleocytoplasmic coagulation. Such aggregates can be observed in vivo in the affected tissues of patients with Alzheimer disease or alcoholic liver cirrhosis, or in cell cultures during necrosis. Oxidation at Met-46 may play a pivotal role in the formation of these insoluble structures. This modification has been detected in vitro following treatment with free radical donor (+/-)-(E)-4-ethyl-2-[(E)-hydroxyimino]-5-nitro-3-hexenamide. It has been proposed to destabilize nearby residues, increasing the likelihood of secondary oxidative damages, including oxidation of Tyr-45 and Met-105. This cascade of oxidations may augment GAPDH misfolding, leading to intermolecular disulfide cross-linking and aggregation.;S-nitrosylation of Cys-152 leads to interaction with SIAH1, followed by translocation to the nucleus (By similarity). S-nitrosylation of Cys-247 is induced by interferon-gamma and LDL(ox) implicating the iNOS-S100A8/9 transnitrosylase complex and seems to prevent interaction with phosphorylated RPL13A and to interfere with GAIT complex activity.;GAPDH is phosphorylated by PRKCI (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);GAPDH is phosphorylated by CAMK2B Belongs to the glyceraldehyde-3-phosphate dehydrogenase family. Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 1/5.;Glycolysis / Gluconeogenesis;Metabolic pathways;Alzheimer's disease;Glycolysis;Gluconeogenesis PE1 12 +NX_P04424 Argininosuccinate lyase 464 51658 6.04 0 Cytosol Argininosuccinic aciduria NA Acetylation modifies enzyme activity in response to alterations of extracellular nutrient availability. Acetylation increased with trichostin A (TSA) or with nicotinamide (NAM). Glucose increases acetylation by about a factor of 3 with decreasing enzyme activity. Acetylation on Lys-288 is decreased on the addition of extra amino acids resulting in activation of enzyme activity. Belongs to the lyase 1 family. Argininosuccinate lyase subfamily. Amino-acid biosynthesis; L-arginine biosynthesis; L-arginine from L-ornithine and carbamoyl phosphate: step 3/3.;Nitrogen metabolism; urea cycle; L-arginine and fumarate from (N(omega)-L-arginino)succinate: step 1/1.;Alanine, aspartate and glutamate metabolism;Arginine and proline metabolism;Metabolic pathways;Urea cycle PE1 7 +NX_P04430 Immunoglobulin kappa variable 1-16 117 12618 8.4 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P04432 Immunoglobulin kappa variable 1D-39 117 12737 8.91 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P04433 Immunoglobulin kappa variable 3-11 115 12575 4.85 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P04435 T cell receptor beta variable 7-9 115 13107 7.7 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 7 +NX_P04437 T cell receptor alpha variable 29/delta variable 5 119 13438 6.03 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 14 +NX_P04439 HLA class I histocompatibility antigen, A alpha chain 365 40841 5.66 1 Golgi apparatus;Endoplasmic reticulum membrane;Cell membrane Diabetes mellitus, insulin-dependent Allele A*32:01: Interacts with natural killer (NK) cell receptor KIR3DL1 and may contribute to functional maturation of NK cells and self-nonself discrimination during innate immune response.;Allele A*68:01: Presents viral epitopes derived from IAV NP (KTGGPIYKR) and HIV-1 tat (ITKGLGISYGR), having a common signature motif namely, Val or Thr at position 2 and positively charged residues Arg or Lys at C-terminal anchor.;Allele A*74:01: Presents immunodominant HIV-1 epitopes derived from gag-pol (GQMVHQAISPR, QIYPGIKVR) and rev (RQIHSISER), carrying an aliphatic residue at position 2 and Arg anchor residue at C-terminal. May contribute to viral load control in chronic HIV-1 infection.;Allele A*11:01: Presents several immunodominant epitopes derived from HIV-1 gag-pol and HHV-4 EBNA4, containing the peptide motif with Val, Ile, Thr, Leu, Tyr or Phe at position 2 and Lys anchor residue at C-terminal. Important in the control of HIV-1, EBV and HBV infections.;Allele A*23:01: Interacts with natural killer (NK) cell receptor KIR3DL1 and may contribute to functional maturation of NK cells and self-nonself discrimination during innate immune response.;Allele A*29:02: Presents peptides having a common motif, namely a Glu residue at position 2 and Tyr or Leu anchor residues at C-terminal.;Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumor-derived peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-A-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected or transformed cells (PubMed:2456340, PubMed:2784196, PubMed:1402688, PubMed:7504010, PubMed:9862734, PubMed:10449296, PubMed:12138174, PubMed:12393434, PubMed:15893615, PubMed:17189421, PubMed:19543285, PubMed:21498667, PubMed:24192765, PubMed:7694806, PubMed:24395804, PubMed:28250417). May also present self-peptides derived from the signal sequence of secreted or membrane proteins, although T cells specific for these peptides are usually inactivated to prevent autoreactivity (PubMed:25880248, PubMed:7506728, PubMed:7679507). Both the peptide and the MHC molecule are recognized by TCR, the peptide is responsible for the fine specificity of antigen recognition and MHC residues account for the MHC restriction of T cells (PubMed:12796775, PubMed:18275829, PubMed:19542454, PubMed:28250417). Typically presents intracellular peptide antigens of 8 to 13 amino acids that arise from cytosolic proteolysis via IFNG-induced immunoproteasome or via endopeptidase IDE/insulin-degrading enzyme (PubMed:17189421, PubMed:20364150, PubMed:17079320, PubMed:26929325, PubMed:27049119). Can bind different peptides containing allele-specific binding motifs, which are mainly defined by anchor residues at position 2 and 9 (PubMed:7504010, PubMed:9862734).;Allele A*24:02: Presents viral epitopes derived from HIV-1 nef (RYPLTFGWCF), EBV lytic- and latent-cycle antigens BRLF1 (TYPVLEEMF), BMLF1 (DYNFVKQLF) and LMP2 (IYVLVMLVL), SARS-CoV nucleocapsid/N (QFKDNVILL), as well as tumor peptide antigens including PRAME (LYVDSLFFL), all sharing a common signature motif, namely an aromatic residue Tyr or Phe at position 2 and a nonhydrophobic anchor residue Phe, Leu or Iso at C-terminal (PubMed:9047241, PubMed:12393434, PubMed:24192765, PubMed:20844028). Interacts with natural killer (NK) cell receptor KIR3DL1 and may contribute to functional maturation of NK cells and self-nonself discrimination during innate immune response (PubMed:17182537, PubMed:18502829).;Allele A*01:01: Presents a restricted peptide repertoire including viral epitopes derived from IAV NP/nucleoprotein (CTELKLSDY), IAV PB1/polymerase basic protein 1 (VSDGGPNLY), HAdV-11 capsid L3/hexon protein (LTDLGQNLLY) as well as tumor peptide antigens including MAGE1 (EADPTGHSY), MAGEA3 (EVDPIGHLY) and WT1 (TSEKRPFMCAY), all having in common a canonical motif with a negatively charged Asp or Glu residue at position 3 and a Tyr anchor residue at C-terminal (PubMed:1402688, PubMed:7504010, PubMed:17189421, PubMed:20364150, PubMed:25880248, PubMed:30530481, PubMed:19177349, PubMed:24395804, PubMed:26758806). A number of HLA-A*01:01-restricted peptides carry a post-translational modification with oxidation and N-terminal acetylation being the most frequent (PubMed:25880248). Fails to present highly immunogenic peptides from the EBV latent antigens (PubMed:18779413).;Allele A*02:01: A major allele in human populations, presents immunodominant viral epitopes derived from IAV M/matrix protein 1 (GILGFVFTL), HIV-1 env (TLTSCNTSV), HIV-1 gag-pol (ILKEPVHGV), HTLV-1 Tax (LLFGYPVYV), HBV C/core antigen (FLPSDFFPS), HCMV UL83/pp65 (NLVPMVATV) as well as tumor peptide antigens including MAGEA4 (GVYDGREHTV), WT1 (RMFPNAPYL) and CTAG1A/NY-ESO-1 (SLLMWITQC), all having in common hydrophobic amino acids at position 2 and at C-terminal anchors.;Allele A*03:01: Presents viral epitopes derived from IAV NP (ILRGSVAHK), HIV-1 nef (QVPLRPMTYK), HIV-1 gag-pol (AIFQSSMTK) as well as tumor peptide antigens including PMEL (LIYRRRLMK), NODAL (HAYIQSLLK), TRP-2 (RMYNMVPFF), all having in common hydrophobic amino acids at position 2 and Lys or Arg anchor residues at C-terminal (PubMed:7504010, PubMed:7679507, PubMed:9862734, PubMed:19543285, PubMed:21943705, PubMed:2456340). May also display spliced peptides resulting from the ligation of two separate proteasomal cleavage products that are not contiguous in the parental protein (PubMed:27049119).;Allele A*26:01: Presents several epitopes derived from HIV-1 gag-pol (EVIPMFSAL, ETKLGKAGY) and env (LVSDGGPNLY), carrying as anchor residues preferentially Glu at position 1, Val or Thr at position 2 and Tyr at C-terminal. N-linked glycosylation at Asn-110.;(Microbial infection) Polyubiquitinated in a post ER compartment by interaction with human herpesvirus 8 MIR1 protein. This targets the protein for rapid degradation via the ubiquitin system. Belongs to the MHC class I family. Endocytosis;Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Natural killer cell mediated cytotoxicity;Type I diabetes mellitus;HTLV-I infection;Herpes simplex infection;Autoimmune thyroid disease;Allograft rejection;Graft-versus-host disease;Viral myocarditis;ER-Phagosome pathway;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Endosomal/Vacuolar pathway;Interferon gamma signaling;Interferon alpha/beta signaling;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;E3 ubiquitin ligases ubiquitinate target proteins PE1 6 +NX_P04440 HLA class II histocompatibility antigen, DP beta 1 chain 258 29159 8.83 1 Endoplasmic reticulum membrane;Endosome membrane;Cell membrane;Lysosome membrane;Cell junction;trans-Golgi network membrane;Nucleoplasm NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. NA Belongs to the MHC class II family. Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Intestinal immune network for IgA production;Type I diabetes mellitus;Leishmaniasis;Toxoplasmosis;Staphylococcus aureus infection;Tuberculosis;Influenza A;HTLV-I infection;Herpes simplex infection;Asthma;Autoimmune thyroid disease;Systemic lupus erythematosus;Rheumatoid arthritis;Allograft rejection;Graft-versus-host disease;Viral myocarditis;MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_P04553 Sperm protamine P1 51 6823 12.08 0 Nucleus;Chromosome NA Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex. Phosphorylated by SRPK1.;PRM1 is phosphorylated by SRPK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protamine P1 family. NA PE1 16 +NX_P04554 Protamine-2 102 13051 11.9 0 Nucleus;Chromosome NA Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex. Proteolytic processing into mature chains is required for histone eviction during spermatogenesis. Transition proteins (TNP1 and TNP2) are required for processing. Belongs to the protamine P2 family. NA PE1 16 +NX_P04626 Receptor tyrosine-protein kinase erbB-2 1255 137910 5.58 1 Cytoplasm;Cell membrane;Early endosome;Cytosol;Perinuclear region;Nucleus Ovarian cancer;Glioma;Gastric cancer;Lung cancer In the nucleus is involved in transcriptional regulation. Associates with the 5'-TCAAATTC-3' sequence in the PTGS2/COX-2 promoter and activates its transcription. Implicated in transcriptional activation of CDKN1A; the function involves STAT3 and SRC. Involved in the transcription of rRNA genes by RNA Pol I and enhances protein synthesis and cell growth.;Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently needs a coreceptor for ligand binding. Essential component of a neuregulin-receptor complex, although neuregulins do not interact with it alone. GP30 is a potential ligand for this receptor. Regulates outgrowth and stabilization of peripheral microtubules (MTs). Upon ERBB2 activation, the MEMO1-RHOA-DIAPH1 signaling pathway elicits the phosphorylation and thus the inhibition of GSK3B at cell membrane. This prevents the phosphorylation of APC and CLASP2, allowing its association with the cell membrane. In turn, membrane-bound APC allows the localization of MACF1 to the cell membrane, which is required for microtubule capture and stabilization. Autophosphorylated. Autophosphorylation occurs in trans, i.e. One subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit (Probable). Ligand-binding increases phosphorylation on tyrosine residues (PubMed:27134172). Signaling via SEMA4C promotes phosphorylation at Tyr-1248 (PubMed:17554007). Dephosphorylated by PTPN12 (PubMed:27134172). Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily. ErbB signaling pathway;Calcium signaling pathway;Focal adhesion;Adherens junction;Pathways in cancer;Pancreatic cancer;Endometrial cancer;Prostate cancer;Bladder cancer;Non-small cell lung cancer;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Signaling by ERBB2;SHC1 events in ERBB2 signaling;GRB2 events in ERBB2 signaling;PI3K events in ERBB2 signaling;Sema4D induced cell migration and growth-cone collapse;GRB7 events in ERBB2 signaling;Downregulation of ERBB2:ERBB3 signaling;PLCG1 events in ERBB2 signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;ERBB2 Regulates Cell Motility;ERBB2 Activates PTK6 Signaling;TFAP2 (AP-2) family regulates transcription of growth factors and their receptors;Downregulation of ERBB2 signaling PE1 17 +NX_P04628 Proto-oncogene Wnt-1 370 40982 9.28 0 Extracellular matrix;Secreted Osteogenesis imperfecta 15;Osteoporosis Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Acts in the canonical Wnt signaling pathway by promoting beta-catenin-dependent transcriptional activation (PubMed:23499309, PubMed:26902720, PubMed:28528193, PubMed:23656646). In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signaling (By similarity). Plays an essential role in the development of the embryonic brain and central nervous system (CNS) (By similarity). Has a role in osteoblast function, bone development and bone homeostasis (PubMed:23499309, PubMed:23656646). Palmitoleoylation is required for efficient binding to frizzled receptors. Palmitoleoylation is necessary for proper trafficking to cell surface (Probable). Depalmitoleoylated by NOTUM, leading to inhibit Wnt signaling pathway (By similarity). Belongs to the Wnt family. Wnt signaling pathway;Hedgehog signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors);TCF dependent signaling in response to WNT;PCP/CE pathway;Transcriptional regulation of white adipocyte differentiation;Disassembly of the destruction complex and recruitment of AXIN to the membrane PE1 12 +NX_P04629 High affinity nerve growth factor receptor 796 87497 6.17 1 Cell membrane;Recycling endosome membrane;Early endosome membrane;Cytoplasmic vesicle;Cytosol;Late endosome membrane Congenital insensitivity to pain with anhidrosis Resistant to NGF, it constitutively activates AKT1 and NF-kappa-B and is unable to activate the Ras-MAPK signaling cascade. Antagonizes the anti-proliferative NGF-NTRK1 signaling that promotes neuronal precursors differentiation.;Promotes angiogenesis and has oncogenic activity when overexpressed.;Receptor tyrosine kinase involved in the development and the maturation of the central and peripheral nervous systems through regulation of proliferation, differentiation and survival of sympathetic and nervous neurons. High affinity receptor for NGF which is its primary ligand (PubMed:1850821, PubMed:1849459, PubMed:1281417, PubMed:8325889, PubMed:15488758, PubMed:22649032, PubMed:17196528, PubMed:27445338). Can also bind and be activated by NTF3/neurotrophin-3. However, NTF3 only supports axonal extension through NTRK1 but has no effect on neuron survival (By similarity). Upon dimeric NGF ligand-binding, undergoes homodimerization, autophosphorylation and activation (PubMed:1281417). Recruits, phosphorylates and/or activates several downstream effectors including SHC1, FRS2, SH2B1, SH2B2 and PLCG1 that regulate distinct overlapping signaling cascades driving cell survival and differentiation. Through SHC1 and FRS2 activates a GRB2-Ras-MAPK cascade that regulates cell differentiation and survival. Through PLCG1 controls NF-Kappa-B activation and the transcription of genes involved in cell survival. Through SHC1 and SH2B1 controls a Ras-PI3 kinase-AKT1 signaling cascade that is also regulating survival. In absence of ligand and activation, may promote cell death, making the survival of neurons dependent on trophic factors. Are N-glycosylated.;Ligand-mediated autophosphorylation (PubMed:2927393, PubMed:1281417, PubMed:15488758, PubMed:7510697, PubMed:8155326, PubMed:8325889, PubMed:27676246, PubMed:28177573). Interaction with SQSTM1 is phosphotyrosine-dependent. Autophosphorylation at Tyr-496 mediates interaction and phosphorylation of SHC1 (PubMed:15488758, PubMed:7510697, PubMed:8155326, PubMed:8325889).;Ubiquitinated (PubMed:27445338). Undergoes polyubiquitination upon activation; regulated by NGFR (PubMed:27445338). Ubiquitination by NEDD4L leads to degradation (PubMed:27445338). Ubiquitination regulates the internalization of the receptor (By similarity).;N-glycosylated (PubMed:2927393). Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. MAPK signaling pathway;Endocytosis;Apoptosis;Neurotrophin signaling pathway;Pathways in cancer;Thyroid cancer;Signalling to p38 via RIT and RIN;Retrograde neurotrophin signalling;ARMS-mediated activation;Signalling to RAS;Frs2-mediated activation;PI3K/AKT activation;NGF-independant TRKA activation;PLC-gamma1 signalling;TRKA activation by NGF;Signalling to STAT3 PE1 1 +NX_P04632 Calpain small subunit 1 268 28316 5.05 0 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. NA NA Degradation of the extracellular matrix;Formation of the cornified envelope;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models PE1 19 +NX_P04637 Cellular tumor antigen p53 393 43653 6.33 0 Cytoplasm;Mitochondrion matrix;Nucleoplasm;Endoplasmic reticulum;PML body;Nucleus Bone marrow failure syndrome 5;Lung cancer;Li-Fraumeni syndrome;Squamous cell carcinoma of the head and neck;Esophageal cancer;Basal cell carcinoma 7;Papilloma of choroid plexus;Adrenocortical carcinoma Inhibits isoform 1-mediated apoptosis. Regulates the circadian clock by repressing CLOCK-ARNTL/BMAL1-mediated transcriptional activation of PER2 (PubMed:24051492).;Enhances the transactivation activity of isoform 1 from some but not all TP53-inducible promoters.;Suppresses transactivation activity and impairs growth suppression mediated by isoform 1.;Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression. Its pro-apoptotic activity is activated via its interaction with PPP1R13B/ASPP1 or TP53BP2/ASPP2 (PubMed:12524540). However, this activity is inhibited when the interaction with PPP1R13B/ASPP1 or TP53BP2/ASPP2 is displaced by PPP1R13L/iASPP (PubMed:12524540). In cooperation with mitochondrial PPIF is involved in activating oxidative stress-induced necrosis; the function is largely independent of transcription. Induces the transcription of long intergenic non-coding RNA p21 (lincRNA-p21) and lincRNA-Mkln1. LincRNA-p21 participates in TP53-dependent transcriptional repression leading to apoptosis and seems to have an effect on cell-cycle regulation. Implicated in Notch signaling cross-over. Prevents CDK7 kinase activity when associated to CAK complex in response to DNA damage, thus stopping cell cycle progression. Dephosphorylated by PP2A-PPP2R5C holoenzyme at Thr-55. SV40 small T antigen inhibits the dephosphorylation by the AC form of PP2A.;May be O-glycosylated in the C-terminal basic region. Studied in EB-1 cell line.;Sumoylated with SUMO1. Sumoylated at Lys-386 by UBC9.;Is monoubiquitinated in an MDM2-independent manner (PubMed:15340061). Ubiquitinated by COP1, which leads to proteasomal degradation (PubMed:19837670). Ubiquitination and subsequent proteasomal degradation is negatively regulated by CCAR2 (PubMed:25732823). Polyubiquitinated by C10orf90/FATS, polyubiquitination is 'Lys-48'-linkage independent and non-proteolytic, leading to TP53 stabilization (By similarity).;Ubiquitinated by MDM2 and SYVN1, which leads to proteasomal degradation (PubMed:10722742, PubMed:12810724, PubMed:15340061, PubMed:17170702, PubMed:19880522). Ubiquitinated by RFWD3, which works in cooperation with MDM2 and may catalyze the formation of short polyubiquitin chains on p53/TP53 that are not targeted to the proteasome (PubMed:10722742, PubMed:12810724, PubMed:20173098). Ubiquitinated by MKRN1 at Lys-291 and Lys-292, which leads to proteasomal degradation (PubMed:19536131). Deubiquitinated by USP10, leading to its stabilization (PubMed:20096447). Ubiquitinated by TRIM24, RFFL, RNF34 and RNF125, which leads to proteasomal degradation (PubMed:19556538). Ubiquitination by TOPORS induces degradation (PubMed:19473992). Deubiquitination by USP7, leading to stabilization (PubMed:15053880).;Monomethylated at Lys-372 by SETD7, leading to stabilization and increased transcriptional activation (PubMed:15525938, PubMed:16415881). Monomethylated at Lys-370 by SMYD2, leading to decreased DNA-binding activity and subsequent transcriptional regulation activity (PubMed:17108971). Lys-372 monomethylation prevents interaction with SMYD2 and subsequent monomethylation at Lys-370 (PubMed:17108971). Dimethylated at Lys-373 by EHMT1 and EHMT2 (PubMed:20118233). Monomethylated at Lys-382 by KMT5A, promoting interaction with L3MBTL1 and leading to repress transcriptional activity (PubMed:17707234). Dimethylation at Lys-370 and Lys-382 diminishes p53 ubiquitination, through stabilizing association with the methyl reader PHF20 (PubMed:22864287). Demethylation of dimethylated Lys-370 by KDM1A prevents interaction with TP53BP1 and represses TP53-mediated transcriptional activation (PubMed:17805299). Monomethylated at Arg-333 and dimethylated at Arg-335 and Arg-337 by PRMT5; methylation is increased after DNA damage and might possibly affect TP53 target gene specificity (PubMed:19011621).;Phosphorylation on Ser residues mediates transcriptional activation. Phosphorylated by HIPK1 (By similarity). Phosphorylation at Ser-9 by HIPK4 increases repression activity on BIRC5 promoter. Phosphorylated on Thr-18 by VRK1. Phosphorylated on Ser-20 by CHEK2 in response to DNA damage, which prevents ubiquitination by MDM2. Phosphorylated on Ser-20 by PLK3 in response to reactive oxygen species (ROS), promoting p53/TP53-mediated apoptosis. Phosphorylated on Thr-55 by TAF1, which promotes MDM2-mediated degradation. Phosphorylated on Ser-33 by CDK7 in a CAK complex in response to DNA damage. Phosphorylated on Ser-46 by HIPK2 upon UV irradiation. Phosphorylation on Ser-46 is required for acetylation by CREBBP. Phosphorylated on Ser-392 following UV but not gamma irradiation. Phosphorylated on Ser-15 upon ultraviolet irradiation; which is enhanced by interaction with BANP. Phosphorylated by NUAK1 at Ser-15 and Ser-392; was initially thought to be mediated by STK11/LKB1 but it was later shown that it is indirect and that STK11/LKB1-dependent phosphorylation is probably mediated by downstream NUAK1 (PubMed:21317932). It is unclear whether AMP directly mediates phosphorylation at Ser-15. Phosphorylated on Thr-18 by isoform 1 and isoform 2 of VRK2. Phosphorylation on Thr-18 by isoform 2 of VRK2 results in a reduction in ubiquitination by MDM2 and an increase in acetylation by EP300. Stabilized by CDK5-mediated phosphorylation in response to genotoxic and oxidative stresses at Ser-15, Ser-33 and Ser-46, leading to accumulation of p53/TP53, particularly in the nucleus, thus inducing the transactivation of p53/TP53 target genes. Phosphorylated by DYRK2 at Ser-46 in response to genotoxic stress. Phosphorylated at Ser-315 and Ser-392 by CDK2 in response to DNA-damage.;Acetylated. Acetylation of Lys-382 by CREBBP enhances transcriptional activity. Deacetylation of Lys-382 by SIRT1 impairs its ability to induce proapoptotic program and modulate cell senescence. Deacetylation by SIRT2 impairs its ability to induce transcription activation in a AKT-dependent manner.;TP53 is phosphorylated by CDK7;TP53 is phosphorylated by CHEK2;TP53 is phosphorylated by CHEK1 Belongs to the p53 family. MAPK signaling pathway;Cell cycle;p53 signaling pathway;Apoptosis;Wnt signaling pathway;Neurotrophin signaling pathway;Amyotrophic lateral sclerosis (ALS);Huntington's disease;Hepatitis C;Measles;HTLV-I infection;Herpes simplex infection;Pathways in cancer;Colorectal cancer;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Thyroid cancer;Basal cell carcinoma;Melanoma;Bladder cancer;Chronic myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;Autodegradation of the E3 ubiquitin ligase COP1;Factors involved in megakaryocyte development and platelet production;Oxidative Stress Induced Senescence;Formation of Senescence-Associated Heterochromatin Foci (SAHF);DNA Damage/Telomere Stress Induced Senescence;Association of TriC/CCT with target proteins during biosynthesis;Pre-NOTCH Transcription and Translation;G2/M DNA damage checkpoint;TP53 Regulates Metabolic Genes;Oncogene Induced Senescence;Activation of PUMA and translocation to mitochondria;Stabilization of p53;Activation of NOXA and translocation to mitochondria;Transcriptional activation of cell cycle inhibitor p21;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;TP53 Regulates Transcription of DNA Repair Genes;Regulation of TP53 Activity through Phosphorylation;TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain;Regulation of TP53 Activity through Acetylation;Regulation of TP53 Degradation;TP53 Regulates Transcription of Death Receptors and Ligands;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain;Regulation of TP53 Activity through Methylation;TP53 Regulates Transcription of Caspase Activators and Caspases;Regulation of TP53 Activity through Association with Co-factors;SUMOylation of transcription factors;Regulation of TP53 Expression;Ub-specific processing proteases;Ovarian tumor domain proteases;PI5P Regulates TP53 Acetylation;Interleukin-4 and Interleukin-13 signaling;RUNX3 regulates CDKN1A transcription;Regulation of PTEN gene transcription PE1 17 +NX_P04731 Metallothionein-1A 61 6120 8.38 0 NA NA Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. NA Belongs to the metallothionein superfamily. Type 1 family. Metallothioneins bind metals PE1 16 +NX_P04732 Metallothionein-1E 61 6014 8.38 0 Nucleoplasm NA Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. NA Belongs to the metallothionein superfamily. Type 1 family. Mineral absorption;Metallothioneins bind metals PE1 16 +NX_P04733 Metallothionein-1F 61 6086 8.23 0 NA NA Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. NA Belongs to the metallothionein superfamily. Type 1 family. Mineral absorption;Metallothioneins bind metals PE1 16 +NX_P04745 Alpha-amylase 1 511 57768 6.47 0 Secreted NA NA NA Belongs to the glycosyl hydrolase 13 family. Starch and sucrose metabolism;Metabolic pathways;Salivary secretion;Carbohydrate digestion and absorption;Starch and sucrose metabolism;Metabolic pathways;Salivary secretion;Carbohydrate digestion and absorption;Starch and sucrose metabolism;Metabolic pathways;Salivary secretion;Carbohydrate digestion and absorption;Digestion of dietary carbohydrate PE1 1 +NX_P04746 Pancreatic alpha-amylase 511 57707 6.6 0 Extracellular space NA NA NA Belongs to the glycosyl hydrolase 13 family. Starch and sucrose metabolism;Metabolic pathways;Pancreatic secretion;Carbohydrate digestion and absorption;Digestion of dietary carbohydrate PE1 1 +NX_P04792 Heat shock protein beta-1 205 22783 5.98 0 Cytoplasm;Cell membrane;Cytosol;Spindle;Nucleus Neuronopathy, distal hereditary motor, 2B;Charcot-Marie-Tooth disease 2F Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state (PubMed:10383393, PubMed:20178975). Plays a role in stress resistance and actin organization (PubMed:19166925). Through its molecular chaperone activity may regulate numerous biological processes including the phosphorylation and the axonal transport of neurofilament proteins (PubMed:23728742). Phosphorylated upon exposure to protein kinase C activators and heat shock (PubMed:8325890). Phosphorylation by MAPKAPK2 and MAPKAPK3 in response to stress dissociates HSPB1 from large small heat-shock protein (sHsps) oligomers and impairs its chaperone activity and ability to protect against oxidative stress effectively. Phosphorylation by MAPKAPK5 in response to PKA stimulation induces F-actin rearrangement (PubMed:1332886, PubMed:8093612, PubMed:19166925). Belongs to the small heat shock protein (HSP20) family. MAPK signaling pathway;VEGF signaling pathway;Amoebiasis;AUF1 (hnRNP D0) binds and destabilizes mRNA;MAPK6/MAPK4 signaling;VEGFA-VEGFR2 Pathway;Extra-nuclear estrogen signaling PE1 7 +NX_P04798 Cytochrome P450 1A1 512 58165 8.61 0 Microsome membrane;Cytoplasm;Mitochondrion inner membrane;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:11555828, PubMed:14559847, PubMed:12865317, PubMed:15805301, PubMed:15041462, PubMed:18577768, PubMed:19965576, PubMed:20972997, PubMed:10681376). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:11555828, PubMed:14559847, PubMed:12865317, PubMed:15805301, PubMed:15041462, PubMed:18577768, PubMed:19965576, PubMed:20972997, PubMed:10681376). Catalyzes the hydroxylation of carbon-hydrogen bonds. Exhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2-hydroxy E1 and E2, as well as D-ring hydroxylated E1 and E2 at the C15-alpha and C16-alpha positions (PubMed:11555828, PubMed:14559847, PubMed:12865317, PubMed:15805301). Displays different regioselectivities for polyunsaturated fatty acids (PUFA) hydroxylation (PubMed:15041462, PubMed:18577768). Catalyzes the epoxidation of double bonds of certain PUFA (PubMed:15041462, PubMed:19965576, PubMed:20972997). Converts arachidonic acid toward epoxyeicosatrienoic acid (EET) regioisomers, 8,9-, 11,12-, and 14,15-EET, that function as lipid mediators in the vascular system (PubMed:20972997). Displays an absolute stereoselectivity in the epoxidation of eicosapentaenoic acid (EPA) producing the 17(R),18(S) enantiomer (PubMed:15041462). May play an important role in all-trans retinoic acid biosynthesis in extrahepatic tissues. Catalyzes two successive oxidative transformation of all-trans retinol to all-trans retinal and then to the active form all-trans retinoic acid (PubMed:10681376). May also participate in eicosanoids metabolism by converting hydroperoxide species into oxo metabolites (lipoxygenase-like reaction, NADPH-independent) (PubMed:21068195). NA Belongs to the cytochrome P450 family. Cofactor metabolism; retinol metabolism.;Lipid metabolism; fatty acid metabolism.;Steroid hormone biosynthesis.;Steroid hormone biosynthesis;Tryptophan metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Metabolic pathways;Xenobiotics;PPARA activates gene expression;Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET);Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE);Biosynthesis of protectins PE1 15 +NX_P04808 Prorelaxin H1 185 21146 8.97 0 Secreted NA Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix. NA Belongs to the insulin family. NA PE1 9 +NX_P04818 Thymidylate synthase 313 35716 6.51 0 Cytoplasm;Mitochondrion;Mitochondrion matrix;Mitochondrion inner membrane;Nucleus NA Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. NA Belongs to the thymidylate synthase family. Pyrimidine metabolism; dTTP biosynthesis.;Pyrimidine metabolism;One carbon pool by folate;Metabolic pathways;G1/S-Specific Transcription;Interconversion of nucleotide di- and triphosphates PE1 18 +NX_P04839 Cytochrome b-245 heavy chain 570 65336 8.9 6 Cell membrane Immunodeficiency 34;Granulomatous disease, chronic, X-linked Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc. Phosphorylated on Ser and Thr residues.;Glycosylated.;Undergoes 'Lys-48'-linked polyubiquitination, likely by RNF145, triggering endoplasmic reticulum-associated degradation. NA Phagosome;Osteoclast differentiation;Leukocyte transendothelial migration;Detoxification of Reactive Oxygen Species;VEGFA-VEGFR2 Pathway;ROS and RNS production in phagocytes;Cross-presentation of particulate exogenous antigens (phagosomes);RHO GTPases Activate NADPH Oxidases;Neutrophil degranulation PE1 X +NX_P04843 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 607 68569 5.96 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Melanosome NA Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. NA Belongs to the OST1 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Protein processing in endoplasmic reticulum;SRP-dependent cotranslational protein targeting to membrane;Asparagine N-linked glycosylation PE1 3 +NX_P04844 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 631 69284 5.44 3 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. NA Belongs to the SWP1 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Protein processing in endoplasmic reticulum;SRP-dependent cotranslational protein targeting to membrane;Asparagine N-linked glycosylation PE1 20 +NX_P04899 Guanine nucleotide-binding protein G(i) subunit alpha-2 355 40451 5.34 0 Cytoplasm;Cell membrane;Membrane;Nucleoplasm;Centrosome;Cytosol NA Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(i) proteins are involved in hormonal regulation of adenylate cyclase: they inhibit the cyclase in response to beta-adrenergic stimuli. May play a role in cell division.;Regulates the cell surface density of dopamine receptors DRD2 by sequestrating them as an intracellular pool. (Microbial infection) Deamidated at Gln-205 by Photorhabdus asymbiotica toxin PAU_02230, blocking GTP hydrolysis of heterotrimeric GNAQ or GNA11 and G-alphai (GNAI1, GNAI2 or GNAI3) proteins, thereby activating RhoA. Belongs to the G-alpha family. G(i/o/t/z) subfamily. Chemokine signaling pathway;Axon guidance;Tight junction;Gap junction;Leukocyte transendothelial migration;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Long-term depression;Progesterone-mediated oocyte maturation;Melanogenesis;Gastric acid secretion;Pertussis;Chagas disease (American trypanosomiasis);Toxoplasmosis;G alpha (i) signalling events;G alpha (s) signalling events;G-protein activation;ADP signalling through P2Y purinoceptor 12;Adrenaline,noradrenaline inhibits insulin secretion;G alpha (z) signalling events;Regulation of insulin secretion;PLC beta mediated events;Adenylate cyclase inhibitory pathway;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling PE1 3 +NX_P04908 Histone H2A type 1-B/E 130 14135 11.05 0 Nucleoplasm;Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239).;Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.;Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.;Deiminated on Arg-4 in granulocytes upon calcium entry.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of 'Lys-27' of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and 'Lys-63'-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend 'Lys-63'-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). H2AK119Ub and ionizing radiation-induced 'Lys-63'-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events. Belongs to the histone H2A family. Systemic lupus erythematosus;Systemic lupus erythematosus;Transcriptional regulation by small RNAs;RMTs methylate histone arginines;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;UCH proteinases;Ub-specific processing proteases;Metalloprotease DUBs;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 6 +NX_P04920 Anion exchange protein 2 1241 137009 5.9 10 Membrane;Cytosol;Nucleus speckle;Cell membrane NA Plasma membrane anion exchange protein of wide distribution. NA Belongs to the anion exchanger (TC 2.A.31) family. Salivary secretion;Gastric acid secretion;Pancreatic secretion;Bile secretion;Bicarbonate transporters PE1 7 +NX_P04921 Glycophorin-C 128 13811 4.68 1 Cell membrane NA This protein is a minor sialoglycoprotein in human erythrocyte membranes. The blood group Gerbich antigens and receptors for Plasmodium falciparum merozoites are most likely located within the extracellular domain. Glycophorin-C plays an important role in regulating the stability of red cells. O-glycosylated with core 1 or possibly core 8 glycans. Belongs to the glycophorin-C family. Malaria;Cell surface interactions at the vascular wall PE1 2 +NX_P05000 Interferon omega-1 195 22319 9.18 0 Secreted NA NA NA Belongs to the alpha/beta interferon family. Cytokine-cytokine receptor interaction;RIG-I-like receptor signaling pathway;Jak-STAT signaling pathway PE1 9 +NX_P05013 Interferon alpha-6 189 22141 6.9 0 Secreted NA Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase. NA Belongs to the alpha/beta interferon family. Cytokine-cytokine receptor interaction;Regulation of autophagy;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Tuberculosis;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Autoimmune thyroid disease;Factors involved in megakaryocyte development and platelet production;Interferon alpha/beta signaling;Regulation of IFNA signaling;TRAF6 mediated IRF7 activation PE1 9 +NX_P05014 Interferon alpha-4 189 21808 5.76 0 Secreted NA Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase. NA Belongs to the alpha/beta interferon family. Cytokine-cytokine receptor interaction;Regulation of autophagy;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Tuberculosis;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Autoimmune thyroid disease;Factors involved in megakaryocyte development and platelet production;Interferon alpha/beta signaling;Regulation of IFNA signaling;TRAF6 mediated IRF7 activation PE1 9 +NX_P05015 Interferon alpha-16 189 21711 6.31 0 Secreted NA Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase. NA Belongs to the alpha/beta interferon family. Cytokine-cytokine receptor interaction;Regulation of autophagy;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Tuberculosis;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Autoimmune thyroid disease;Factors involved in megakaryocyte development and platelet production;Interferon alpha/beta signaling;Regulation of IFNA signaling;TRAF6 mediated IRF7 activation PE2 9 +NX_P05019 Insulin-like growth factor I 195 21841 9.78 0 Secreted Insulin-like growth factor I deficiency The insulin-like growth factors, isolated from plasma, are structurally and functionally related to insulin but have a much higher growth-promoting activity. May be a physiological regulator of [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblasts. Stimulates glucose transport in bone-derived osteoblastic (PyMS) cells and is effective at much lower concentrations than insulin, not only regarding glycogen and DNA synthesis but also with regard to enhancing glucose uptake. May play a role in synapse maturation (PubMed:21076856, PubMed:24132240). Ca(2+)-dependent exocytosis of IGF1 is required for sensory perception of smell in the olfactory bulb (By similarity). Acts as a ligand for IGF1R. Binds to the alpha subunit of IGF1R, leading to the activation of the intrinsic tyrosine kinase activity which autophosphorylates tyrosine residues in the beta subunit thus initiatiating a cascade of down-stream signaling events leading to activation of the PI3K-AKT/PKB and the Ras-MAPK pathways. Binds to integrins ITGAV:ITGB3 and ITGA6:ITGB4. Its binding to integrins and subsequent ternary complex formation with integrins and IGFR1 are essential for IGF1 signaling. Induces the phosphorylation and activation of IGFR1, MAPK3/ERK1, MAPK1/ERK2 and AKT1 (PubMed:19578119, PubMed:22351760, PubMed:23696648, PubMed:23243309). NA Belongs to the insulin family. Oocyte meiosis;p53 signaling pathway;mTOR signaling pathway;Focal adhesion;Long-term depression;Progesterone-mediated oocyte maturation;Aldosterone-regulated sodium reabsorption;Pathways in cancer;Glioma;Prostate cancer;Melanoma;Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Synthesis, secretion, and deacylation of Ghrelin;IRS-related events triggered by IGF1R;SHC-related events triggered by IGF1R;Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) PE1 12 +NX_P05023 Sodium/potassium-transporting ATPase subunit alpha-1 1023 112896 5.33 10 Sarcolemma;Melanosome;Cell membrane Hypomagnesemia, seizures, and mental retardation 2;Charcot-Marie-Tooth disease 2DD This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. Phosphorylation on Tyr-10 modulates pumping activity. Phosphorylation of Ser-943 by PKA modulates the response of ATP1A1 to PKC. Dephosphorylation by protein phosphatase 2A (PP2A) following increases in intracellular sodium, leading to increase catalytic activity (By similarity). Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. Cardiac muscle contraction;Aldosterone-regulated sodium reabsorption;Endocrine and other factor-regulated calcium reabsorption;Proximal tubule bicarbonate reclamation;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Carbohydrate digestion and absorption;Protein digestion and absorption;Bile secretion;Mineral absorption;Ion transport by P-type ATPases;Ion homeostasis PE1 1 +NX_P05026 Sodium/potassium-transporting ATPase subunit beta-1 303 35061 8.74 1 Sarcolemma;Cell membrane NA Involved in cell adhesion and establishing epithelial cell polarity.;This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. Glutathionylated. Belongs to the X(+)/potassium ATPases subunit beta family. Cardiac muscle contraction;Aldosterone-regulated sodium reabsorption;Endocrine and other factor-regulated calcium reabsorption;Proximal tubule bicarbonate reclamation;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Carbohydrate digestion and absorption;Protein digestion and absorption;Bile secretion;Mineral absorption;Ion transport by P-type ATPases;Basigin interactions;Ion homeostasis PE1 1 +NX_P05060 Secretogranin-1 677 78276 5.02 0 Cytoplasmic vesicle;Secreted NA Secretogranin-1 is a neuroendocrine secretory granule protein, which may be the precursor for other biologically active peptides. O-glycosylated.;Extensively processed by limited proteolysis at conserved basic residues. Alternative processing are seen in different tissues (By similarity). Belongs to the chromogranin/secretogranin protein family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 20 +NX_P05062 Fructose-bisphosphate aldolase B 364 39473 8.01 0 Centriolar satellite Hereditary fructose intolerance NA NA Belongs to the class I fructose-bisphosphate aldolase family. Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 4/4.;Glycolysis / Gluconeogenesis;Pentose phosphate pathway;Fructose and mannose metabolism;Metabolic pathways;Glycolysis;Gluconeogenesis;Fructose catabolism;Hereditary fructose intolerance PE1 9 +NX_P05067 Amyloid-beta precursor protein 770 86943 4.73 1 Cytoplasm;Golgi apparatus;Cell membrane;Early endosome;Growth cone;Perikaryon;Secreted;Clathrin-coated pit;Membrane;Cell surface;Cytoplasmic vesicle;Nucleus Cerebral amyloid angiopathy, APP-related;Alzheimer disease 1 The gamma-CTF peptides as well as the caspase-cleaved peptides, including C31, are potent enhancers of neuronal apoptosis.;N-APP binds TNFRSF21 triggering caspase activation and degeneration of both neuronal cell bodies (via caspase-3) and axons (via caspase-6).;Appicans elicit adhesion of neural cells to the extracellular matrix and may regulate neurite outgrowth in the brain.;Functions as a cell surface receptor and performs physiological functions on the surface of neurons relevant to neurite growth, neuronal adhesion and axonogenesis. Interaction between APP molecules on neighboring cells promotes synaptogenesis (PubMed:25122912). Involved in cell mobility and transcription regulation through protein-protein interactions. Can promote transcription activation through binding to APBB1-KAT5 and inhibits Notch signaling through interaction with Numb. Couples to apoptosis-inducing pathways such as those mediated by G(O) and JIP. Inhibits G(o) alpha ATPase activity (By similarity). Acts as a kinesin I membrane receptor, mediating the axonal transport of beta-secretase and presenilin 1 (By similarity). By acting as a kinesin I membrane receptor, plays a role in axonal anterograde transport of cargo towards synapes in axons (PubMed:17062754, PubMed:23011729). Involved in copper homeostasis/oxidative stress through copper ion reduction. In vitro, copper-metallated APP induces neuronal death directly or is potentiated through Cu(2+)-mediated low-density lipoprotein oxidation. Can regulate neurite outgrowth through binding to components of the extracellular matrix such as heparin and collagen I and IV. The splice isoforms that contain the BPTI domain possess protease inhibitor activity. Induces a AGER-dependent pathway that involves activation of p38 MAPK, resulting in internalization of amyloid-beta peptide and leading to mitochondrial dysfunction in cultured cortical neurons. Provides Cu(2+) ions for GPC1 which are required for release of nitric oxide (NO) and subsequent degradation of the heparan sulfate chains on GPC1.;Amyloid-beta peptides are lipophilic metal chelators with metal-reducing activity. Bind transient metals such as copper, zinc and iron. In vitro, can reduce Cu(2+) and Fe(3+) to Cu(+) and Fe(2+), respectively. Amyloid-beta protein 42 is a more effective reductant than amyloid-beta protein 40. Amyloid-beta peptides bind to lipoproteins and apolipoproteins E and J in the CSF and to HDL particles in plasma, inhibiting metal-catalyzed oxidation of lipoproteins. APP42-beta may activate mononuclear phagocytes in the brain and elicit inflammatory responses. Promotes both tau aggregation and TPK II-mediated phosphorylation. Interaction with overexpressed HADH2 leads to oxidative stress and neurotoxicity. Also binds GPC1 in lipid rafts. Trophic-factor deprivation triggers the cleavage of surface APP by beta-secretase to release sAPP-beta which is further cleaved to release an N-terminal fragment of APP (N-APP).;Amyloid-beta peptides are degraded by IDE.;N-glycosylated (PubMed:2900137). N- and O-glycosylated. O-glycosylation on Ser and Thr residues with core 1 or possibly core 8 glycans. Partial tyrosine glycosylation (Tyr-681) is found on some minor, short amyloid-beta peptides (amyloid-beta 1-15, 1-16, 1-17, 1-18, 1-19 and 1-20) but not found on amyloid-beta protein 38, amyloid-beta protein 40 nor on amyloid-beta protein 42. Modification on a tyrosine is unusual and is more prevelant in AD patients. Glycans had Neu5AcHex(Neu5Ac)HexNAc-O-Tyr, Neu5AcNeu5AcHex(Neu5Ac)HexNAc-O-Tyr and O-AcNeu5AcNeu5AcHex(Neu5Ac)HexNAc-O-Tyr structures, where O-Ac is O-acetylation of Neu5Ac. Neu5AcNeu5Ac is most likely Neu5Ac 2,8Neu5Ac linked. O-glycosylations in the vicinity of the cleavage sites may influence the proteolytic processing. Appicans are L-APP isoforms with O-linked chondroitin sulfate.;Proteolytically cleaved by caspases during neuronal apoptosis. Cleavage at Asp-739 by either CASP6, CASP8 or CASP9 results in the production of the neurotoxic C31 peptide and the increased production of amyloid-beta peptides.;Proteolytically processed under normal cellular conditions. Cleavage either by alpha-secretase, beta-secretase or theta-secretase leads to generation and extracellular release of soluble APP peptides, S-APP-alpha and S-APP-beta, and the retention of corresponding membrane-anchored C-terminal fragments, C80, C83 and C99. Subsequent processing of C80 and C83 by gamma-secretase yields P3 peptides. This is the major secretory pathway and is non-amyloidogenic. Alternatively, presenilin/nicastrin-mediated gamma-secretase processing of C99 releases the amyloid-beta proteins, amyloid-beta protein 40 and amyloid-beta protein 42, major components of amyloid plaques, and the cytotoxic C-terminal fragments, gamma-CTF(50), gamma-CTF(57) and gamma-CTF(59). PSEN1 cleavage is more efficient with C83 than with C99 as substrate (in vitro) (PubMed:30630874). Many other minor amyloid-beta peptides, amyloid-beta 1-X peptides, are found in cerebral spinal fluid (CSF) including the amyloid-beta X-15 peptides, produced from the cleavage by alpha-secretase and all terminating at Gln-686.;Phosphorylation in the C-terminal on tyrosine, threonine and serine residues is neuron-specific (PubMed:10341243). Phosphorylation can affect APP processing, neuronal differentiation and interaction with other proteins (PubMed:10341243). Phosphorylated on Thr-743 in neuronal cells by Cdc5 kinase and Mapk10, in dividing cells by Cdc2 kinase in a cell-cycle dependent manner with maximal levels at the G2/M phase and, in vitro, by GSK-3-beta (PubMed:8131745, PubMed:11146006). The Thr-743 phosphorylated form causes a conformational change which reduces binding of Fe65 family members (PubMed:11517218). In dopaminergic (DA) neurons, phosphorylation on Thr-743 by LRKK2 promotes the production and the nuclear translocation of the APP intracellular domain (AICD) which induces DA neuron apoptosis (PubMed:28720718). Phosphorylation on Tyr-757 is required for SHC binding (PubMed:11877420). Phosphorylated in the extracellular domain by casein kinases on both soluble and membrane-bound APP. This phosphorylation is inhibited by heparin (PubMed:8999878).;Extracellular binding and reduction of copper, results in a corresponding oxidation of Cys-144 and Cys-158, and the formation of a disulfide bond. In vitro, the APP-Cu(+) complex in the presence of hydrogen peroxide results in an increased production of amyloid-beta-containing peptides. Belongs to the APP family. Alzheimer's disease;G alpha (i) signalling events;G alpha (q) signalling events;Advanced glycosylation endproduct receptor signaling;The NLRP3 inflammasome;Amyloid fiber formation;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated NF-kB activation;Lysosome Vesicle Biogenesis;Platelet degranulation;ECM proteoglycans;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Formyl peptide receptors bind formyl peptides and many other ligands;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models;Post-translational protein phosphorylation;Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 21 +NX_P05089 Arginase-1 322 34735 6.72 0 Cytoplasm;Cytoplasmic granule Argininemia Key element of the urea cycle converting L-arginine to urea and L-ornithine, which is further metabolized into metabolites proline and polyamides that drive collagen synthesis and bioenergetic pathways critical for cell proliferation, respectively; the urea cycle takes place primarily in the liver and, to a lesser extent, in the kidneys.;Functions in L-arginine homeostasis in nonhepatic tissues characterized by the competition between nitric oxide synthase (NOS) and arginase for the available intracellular substrate arginine. Arginine metabolism is a critical regulator of innate and adaptive immune responses. Involved in an antimicrobial effector pathway in polymorphonuclear granulocytes (PMN). Upon PMN cell death is liberated from the phagolysosome and depletes arginine in the microenvironment leading to suppressed T cell and natural killer (NK) cell proliferation and cytokine secretion (PubMed:15546957, PubMed:16709924, PubMed:19380772). In group 2 innate lymphoid cells (ILC2s) promotes acute type 2 inflammation in the lung and is involved in optimal ILC2 proliferation but not survival (By similarity). In humans, the immunological role in the monocytic/macrophage/dendritic cell (DC) lineage is unsure. NA Belongs to the arginase family. Nitrogen metabolism; urea cycle; L-ornithine and urea from L-arginine: step 1/1.;Arginine and proline metabolism;Metabolic pathways;Amoebiasis;Urea cycle;Neutrophil degranulation PE1 6 +NX_P05090 Apolipoprotein D 189 21276 5.06 0 Secreted;Cell membrane NA APOD occurs in the macromolecular complex with lecithin-cholesterol acyltransferase. It is probably involved in the transport and binding of bilin. Appears to be able to transport a variety of ligands in a number of different contexts. N-glycosylatd. N-glycan heterogeneity at Asn-65: Hex5HexNAc4 (major) and Hex6HexNAc5 (minor); at Asn-98: Hex5HexNAc4 (minor), dHex1Hex5HexNAc4 (major), dHex1Hex6HexNAc5 (minor) and dHex1Hex7HexNAc6 (minor). Belongs to the calycin superfamily. Lipocalin family. Transport of fatty acids PE1 3 +NX_P05091 Aldehyde dehydrogenase, mitochondrial 517 56381 6.63 0 Mitochondrion matrix NA NA NA Belongs to the aldehyde dehydrogenase family. Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.;Glycolysis / Gluconeogenesis;Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Fatty acid metabolism;Valine, leucine and isoleucine degradation;Lysine degradation;Arginine and proline metabolism;Histidine metabolism;Tryptophan metabolism;beta-Alanine metabolism;Glycerolipid metabolism;Pyruvate metabolism;Propanoate metabolism;Metabolic pathways;Ethanol oxidation;Metabolism of serotonin PE1 12 +NX_P05093 Steroid 17-alpha-hydroxylase/17,20 lyase 508 57371 8.72 0 Microsome membrane;Endoplasmic reticulum membrane Adrenal hyperplasia 5 A cytochrome P450 monooxygenase involved in corticoid and androgen biosynthesis (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938). Catalyzes 17-alpha hydroxylation of C21 steroids, which is common for both pathways. A second oxidative step, required only for androgen synthesis, involves an acyl-carbon cleavage. The 17-alpha hydroxy intermediates, as part of adrenal glucocorticoids biosynthesis pathway, are precursors of cortisol (PubMed:9452426, PubMed:25301938) (Probable). Hydroxylates steroid hormones, pregnenolone and progesterone to form 17-alpha hydroxy metabolites, followed by the cleavage of the C17-C20 bond to form C19 steroids, dehydroepiandrosterone (DHEA) and androstenedione (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938). Has 16-alpha hydroxylase activity. Catalyzes 16-alpha hydroxylation of 17-alpha hydroxy pregnenolone, followed by the cleavage of the C17-C20 bond to form 16-alpha-hydroxy DHEA. Also 16-alpha hydroxylates androgens, relevant for estriol synthesis (PubMed:27339894, PubMed:25301938). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938). Phosphorylation is necessary for 17,20-lyase, but not for 17-alpha-hydroxylase activity. Belongs to the cytochrome P450 family. Steroid hormone biosynthesis.;Steroid biosynthesis; glucocorticoid biosynthesis.;Steroid hormone biosynthesis;Metabolic pathways;Glucocorticoid biosynthesis;Androgen biosynthesis;Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5) PE1 10 +NX_P05106 Integrin beta-3 788 87058 5.09 1 Postsynaptic cell membrane;Cell membrane;Focal adhesion;Lamellipodium membrane;Nucleoplasm;Synapse Bleeding disorder, platelet-type 16;Glanzmann thrombasthenia (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Cytomegalovirus/HHV-5.;(Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions.;(Microbial infection) Integrin ITGA5:ITGB3 acts as a receptor for Human metapneumovirus.;(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for West nile virus.;(Microbial infection) Acts as a receptor for Hantaan virus.;(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Coxsackievirus A9.;(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Herpes virus 8/HHV-8.;(Microbial infection) Integrin ITGAV:ITGB3 acts aP05556s a receptor for Human parechovirus 1.;Integrin alpha-V/beta-3 (ITGAV:ITGB3) is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor. Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. Integrins alpha-IIb/beta-3 and alpha-V/beta-3 recognize the sequence R-G-D in a wide array of ligands. Integrin alpha-IIb/beta-3 recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial surface. Fibrinogen binding enhances SELP expression in activated platelets (By similarity). ITGAV:ITGB3 binds to fractalkine (CX3CL1) and acts as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415, PubMed:24789099). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to FGF2 and this binding is essential for FGF2 signaling (PubMed:28302677). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (PubMed:29030430). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887). In brain, plays a role in synaptic transmission and plasticity. Involved in the regulation of the serotonin neurotransmission, is required to localize to specific compartments within the synapse the serotonin receptor SLC6A4 and for an appropriate reuptake of serotonin. Controls excitatory synaptic strength by regulating GRIA2-containing AMPAR endocytosis, which affects AMPAR abundance and composition (By similarity). Phosphorylated on tyrosine residues in response to thrombin-induced platelet aggregation. Probably involved in outside-in signaling. A peptide (AA 740-762) is capable of binding GRB2 only when both Tyr-773 and Tyr-785 are phosphorylated. Phosphorylation of Thr-779 inhibits SHC binding. Belongs to the integrin beta chain family. Phagosome;Osteoclast differentiation;Focal adhesion;ECM-receptor interaction;Hematopoietic cell lineage;Regulation of actin cytoskeleton;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;VEGFA-VEGFR2 Pathway;Signal transduction by L1;Syndecan interactions;MAP2K and MAPK activation;Integrin cell surface interactions;Platelet degranulation;ECM proteoglycans;Molecules associated with elastic fibres;Elastic fibre formation;PECAM1 interactions;Integrin alphaIIb beta3 signaling;GRB2:SOS provides linkage to MAPK signaling for Integrins;p130Cas linkage to MAPK signaling for integrins;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 17 +NX_P05107 Integrin beta-2 769 84782 6.66 1 Cytoplasm;Membrane raft;Cell membrane Leukocyte adhesion deficiency 1 Integrin ITGAL/ITGB2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrin ITGAL/ITGB2 is also a receptor for the secreted form of ubiquitin-like protein ISG15; the interaction is mediated by ITGAL (PubMed:29100055). Integrins ITGAM/ITGB2 and ITGAX/ITGB2 are receptors for the iC3b fragment of the third complement component and for fibrinogen. Integrin ITGAX/ITGB2 recognizes the sequence G-P-R in fibrinogen alpha-chain. Integrin ITGAM/ITGB2 recognizes P1 and P2 peptides of fibrinogen gamma chain. Integrin ITGAM/ITGB2 is also a receptor for factor X. Integrin ITGAD/ITGB2 is a receptor for ICAM3 and VCAM1. Contributes to natural killer cell cytotoxicity (PubMed:15356110). Involved in leukocyte adhesion and transmigration of leukocytes including T-cells and neutrophils (PubMed:11812992, PubMed:28807980). Triggers neutrophil transmigration during lung injury through PTK2B/PYK2-mediated activation (PubMed:18587400). Integrin ITGAL/ITGB2 in association with ICAM3, contributes to apoptotic neutrophil phagocytosis by macrophages (PubMed:23775590). In association with alpha subunit ITGAM/CD11b, required for CD177-PRTN3-mediated activation of TNF primed neutrophils (PubMed:21193407). Both Ser-745 and Ser-756 become phosphorylated when T-cells are exposed to phorbol esters (PubMed:11700305). Phosphorylation on Thr-758 (but not on Ser-756) allows interaction with 14-3-3 proteins (PubMed:11700305, PubMed:16301335). Belongs to the integrin beta chain family. Phagosome;Cell adhesion molecules (CAMs);Natural killer cell mediated cytotoxicity;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Pertussis;Legionellosis;Leishmaniasis;Malaria;Amoebiasis;Staphylococcus aureus infection;Tuberculosis;HTLV-I infection;Rheumatoid arthritis;Viral myocarditis;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Toll Like Receptor 4 (TLR4) Cascade;Integrin cell surface interactions;Cell surface interactions at the vascular wall;Neutrophil degranulation;Interleukin-4 and Interleukin-13 signaling PE1 21 +NX_P05108 Cholesterol side-chain cleavage enzyme, mitochondrial 521 60102 8.89 0 Mitochondrion inner membrane Adrenal insufficiency, congenital, with 46,XY sex reversal A cytochrome P450 monooxygenase that catalyzes the side-chain hydroxylation and cleavage of cholesterol to pregnenolone, the precursor of most steroid hormones (PubMed:21636783). Catalyzes three sequential oxidation reactions of cholesterol, namely the hydroxylation at C22 followed with the hydroxylation at C20 to yield 20R,22R-hydroxycholesterol that is further cleaved between C20 and C22 to yield the C21-steroid pregnenolone and 4-methylpentanal (PubMed:21636783). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) (PubMed:21636783). NA Belongs to the cytochrome P450 family. Steroid metabolism; cholesterol metabolism.;Lipid metabolism; C21-steroid hormone metabolism.;Steroid hormone biosynthesis;Metabolic pathways;Pregnenolone biosynthesis;Endogenous sterols;Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) PE1 15 +NX_P05109 Protein S100-A8 93 10835 6.51 0 Cytoplasm;Cell membrane;Secreted;Cytosol;Cytoskeleton NA S100A8 is a calcium- and zinc-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. It can induce neutrophil chemotaxis and adhesion. Predominantly found as calprotectin (S100A8/A9) which has a wide plethora of intra- and extracellular functions. The intracellular functions include: facilitating leukocyte arachidonic acid trafficking and metabolism, modulation of the tubulin-dependent cytoskeleton during migration of phagocytes and activation of the neutrophilic NADPH-oxidase. Activates NADPH-oxidase by facilitating the enzyme complex assembly at the cell membrane, transferring arachidonic acid, an essential cofactor, to the enzyme complex and S100A8 contributes to the enzyme assembly by directly binding to NCF2/P67PHOX. The extracellular functions involve proinflammatory, antimicrobial, oxidant-scavenging and apoptosis-inducing activities. Its proinflammatory activity includes recruitment of leukocytes, promotion of cytokine and chemokine production, and regulation of leukocyte adhesion and migration. Acts as an alarmin or a danger associated molecular pattern (DAMP) molecule and stimulates innate immune cells via binding to pattern recognition receptors such as Toll-like receptor 4 (TLR4) and receptor for advanced glycation endproducts (AGER). Binding to TLR4 and AGER activates the MAP-kinase and NF-kappa-B signaling pathways resulting in the amplification of the proinflammatory cascade. Has antimicrobial activity towards bacteria and fungi and exerts its antimicrobial activity probably via chelation of Zn(2+) which is essential for microbial growth. Can induce cell death via autophagy and apoptosis and this occurs through the cross-talk of mitochondria and lysosomes via reactive oxygen species (ROS) and the process involves BNIP3. Can regulate neutrophil number and apoptosis by an anti-apoptotic effect; regulates cell survival via ITGAM/ITGB and TLR4 and a signaling mechanism involving MEK-ERK. Its role as an oxidant scavenger has a protective role in preventing exaggerated tissue damage by scavenging oxidants. Can act as a potent amplifier of inflammation in autoimmunity as well as in cancer development and tumor spread. The iNOS-S100A8/A9 transnitrosylase complex directs selective inflammatory stimulus-dependent S-nitrosylation of GAPDH and probably multiple targets such as ANXA5, EZR, MSN and VIM by recognizing a [IL]-x-C-x-x-[DE] motif; S100A8 seems to contribute to S-nitrosylation site selectivity. NA Belongs to the S-100 family. RHO GTPases Activate NADPH Oxidases;Regulation of TLR by endogenous ligand;Neutrophil degranulation;Metal sequestration by antimicrobial proteins PE1 1 +NX_P05111 Inhibin alpha chain 366 39670 8.29 0 Cytoplasmic vesicle;Secreted NA Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins. Proteolytic processing yields a number of bioactive forms. The 20/23 kDa forms consist solely of the mature alpha chain, the 26/29 kDa forms consist of the most N-terminal propeptide linked through a disulfide bond to the mature alpha chain, the 50/53 kDa forms encompass the entire proprotein. Each type can be furthermore either mono- or diglycosylated, causing the mass difference. Belongs to the TGF-beta family. Glycoprotein hormones PE1 2 +NX_P05112 Interleukin-4 153 17492 9.17 0 Secreted Ischemic stroke Participates in at least several B-cell activation processes as well as of other cell types (PubMed:3016727). It is a costimulator of DNA-synthesis. It induces the expression of class II MHC molecules on resting B-cells. It enhances both secretion and cell surface expression of IgE and IgG1. It also regulates the expression of the low affinity Fc receptor for IgE (CD23) on both lymphocytes and monocytes. Positively regulates IL31RA expression in macrophages (By similarity). Stimulates autophagy in dendritic cells by interfering with mTORC1 signaling and through the induction of RUFY4 (By similarity). NA Belongs to the IL-4/IL-13 family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Hematopoietic cell lineage;T cell receptor signaling pathway;Fc epsilon RI signaling pathway;Intestinal immune network for IgA production;Leishmaniasis;Measles;Asthma;Autoimmune thyroid disease;Allograft rejection;Interleukin-4 and Interleukin-13 signaling;Interleukin-18 signaling PE1 5 +NX_P05113 Interleukin-5 134 15238 7.81 0 Secreted NA Factor that induces terminal differentiation of late-developing B-cells to immunoglobulin secreting cells. NA Belongs to the IL-5 family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Hematopoietic cell lineage;T cell receptor signaling pathway;Fc epsilon RI signaling pathway;Intestinal immune network for IgA production;Asthma;Autoimmune thyroid disease;Allograft rejection;RAF/MAP kinase cascade;Interleukin receptor SHC signaling;Interleukin-3, Interleukin-5 and GM-CSF signaling PE1 5 +NX_P05114 Non-histone chromosomal protein HMG-14 100 10659 9.6 0 Nucleoplasm;Cytoplasm;Nucleus NA Binds to the inner side of the nucleosomal DNA thus altering the interaction between the DNA and the histone octamer. May be involved in the process which maintains transcribable genes in a unique chromatin conformation. Inhibits the phosphorylation of nucleosomal histones H3 and H2A by RPS6KA5/MSK1 and RPS6KA3/RSK2 (By similarity). Phosphorylation on Ser-21 and Ser-25 weakens binding to nucleosomes and increases the rate of H3 phosphorylation (By similarity). Phosphorylation favors cytoplasmic localization.;HMGN1 is phosphorylated by PRKACA Belongs to the HMGN family. Herpes simplex infection;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER PE1 21 +NX_P05120 Plasminogen activator inhibitor 2 415 46596 5.46 0 Cytoplasm;Extracellular space NA Inhibits urokinase-type plasminogen activator. The monocyte derived PAI-2 is distinct from the endothelial cell-derived PAI-1. The signal sequence is not cleaved. Belongs to the serpin family. Ov-serpin subfamily. Amoebiasis;Dissolution of Fibrin Clot;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 18 +NX_P05121 Plasminogen activator inhibitor 1 402 45060 6.68 0 Cytosol;Secreted Plasminogen activator inhibitor-1 deficiency Serine protease inhibitor. Inhibits TMPRSS7 (PubMed:15853774). Is a primary inhibitor of tissue-type plasminogen activator (PLAT) and urokinase-type plasminogen activator (PLAU). As PLAT inhibitor, it is required for fibrinolysis down-regulation and is responsible for the controlled degradation of blood clots (PubMed:8481516, PubMed:9207454, PubMed:17912461). As PLAU inhibitor, it is involved in the regulation of cell adhesion and spreading (PubMed:9175705). Acts as a regulator of cell migration, independently of its role as protease inhibitor (PubMed:15001579, PubMed:9168821). It is required for stimulation of keratinocyte migration during cutaneous injury repair (PubMed:18386027). It is involved in cellular and replicative senescence (PubMed:16862142). Plays a role in alveolar type 2 cells senescence in the lung (By similarity). Is involved in the regulation of cementogenic differentiation of periodontal ligament stem cells, and regulates odontoblast differentiation and dentin formation during odontogenesis (PubMed:25808697, PubMed:27046084). Inactivated by proteolytic attack of the urokinase-type (u-PA) and the tissue-type (TPA), cleaving the 369-Arg-|-Met-370 bond. Belongs to the serpin family. p53 signaling pathway;Complement and coagulation cascades;Chagas disease (American trypanosomiasis);SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Platelet degranulation;ECM proteoglycans;Dissolution of Fibrin Clot PE1 7 +NX_P05129 Protein kinase C gamma type 697 78448 7.27 0 Cytoplasm;Synaptosome;Cell membrane;Dendrite;Perinuclear region Spinocerebellar ataxia 14 Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays diverse roles in neuronal cells and eye tissues, such as regulation of the neuronal receptors GRIA4/GLUR4 and GRIN1/NMDAR1, modulation of receptors and neuronal functions related to sensitivity to opiates, pain and alcohol, mediation of synaptic function and cell survival after ischemia, and inhibition of gap junction activity after oxidative stress. Binds and phosphorylates GRIA4/GLUR4 glutamate receptor and regulates its function by increasing plasma membrane-associated GRIA4 expression. In primary cerebellar neurons treated with the agonist 3,5-dihyidroxyphenylglycine, functions downstream of the metabotropic glutamate receptor GRM5/MGLUR5 and phosphorylates GRIN1/NMDAR1 receptor which plays a key role in synaptic plasticity, synaptogenesis, excitotoxicity, memory acquisition and learning. May be involved in the regulation of hippocampal long-term potentiation (LTP), but may be not necessary for the process of synaptic plasticity. May be involved in desensitization of mu-type opioid receptor-mediated G-protein activation in the spinal cord, and may be critical for the development and/or maintenance of morphine-induced reinforcing effects in the limbic forebrain. May modulate the functionality of mu-type-opioid receptors by participating in a signaling pathway which leads to the phosphorylation and degradation of opioid receptors. May also contributes to chronic morphine-induced changes in nociceptive processing. Plays a role in neuropathic pain mechanisms and contributes to the maintenance of the allodynia pain produced by peripheral inflammation. Plays an important role in initial sensitivity and tolerance to ethanol, by mediating the behavioral effects of ethanol as well as the effects of this drug on the GABA(A) receptors. During and after cerebral ischemia modulate neurotransmission and cell survival in synaptic membranes, and is involved in insulin-induced inhibition of necrosis, an important mechanism for minimizing ischemic injury. Required for the elimination of multiple climbing fibers during innervation of Purkinje cells in developing cerebellum. Is activated in lens epithelial cells upon hydrogen peroxide treatment, and phosphorylates connexin-43 (GJA1/CX43), resulting in disassembly of GJA1 gap junction plaques and inhibition of gap junction activity which could provide a protective effect against oxidative stress (By similarity). Phosphorylates p53/TP53 and promotes p53/TP53-dependent apoptosis in response to DNA damage. Involved in the phase resetting of the cerebral cortex circadian clock during temporally restricted feeding. Stabilizes the core clock component ARNTL/BMAL1 by interfering with its ubiquitination, thus suppressing its degradation, resulting in phase resetting of the cerebral cortex clock (By similarity). Ubiquitinated.;Autophosphorylation on Thr-674 appears to regulate motor functions of junctophilins, JPH3 and JPH4.;Autophosphorylated (Phosphoserine,Phosphothreonine:PTM-0253,PTM-0254) Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily. MAPK signaling pathway;ErbB signaling pathway;Calcium signaling pathway;Phosphatidylinositol signaling system;Vascular smooth muscle contraction;Wnt signaling pathway;VEGF signaling pathway;Focal adhesion;Tight junction;Gap junction;Natural killer cell mediated cytotoxicity;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Long-term depression;Melanogenesis;Endocrine and other factor-regulated calcium reabsorption;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Vibrio cholerae infection;African trypanosomiasis;Amoebiasis;Pathways in cancer;Glioma;Non-small cell lung cancer;G alpha (z) signalling events;WNT5A-dependent internalization of FZD4;Calmodulin induced events;Disinhibition of SNARE formation;Trafficking of GluR2-containing AMPA receptors;Response to elevated platelet cytosolic Ca2+ PE1 19 +NX_P05141 ADP/ATP translocase 2 298 32852 9.71 6 Cytoplasm;Mitochondrion inner membrane NA Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation. Trimethylated by ANTKMT at Lys-52. Belongs to the mitochondrial carrier (TC 2.A.29) family. Calcium signaling pathway;Parkinson's disease;Huntington's disease;HTLV-I infection;Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane;Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization PE1 X +NX_P05154 Plasma serine protease inhibitor 406 45675 9.3 0 Mitochondrion;Extracellular space NA Heparin-dependent serine protease inhibitor acting in body fluids and secretions. Inactivates serine proteases by binding irreversibly to their serine activation site. Involved in the regulation of intravascular and extravascular proteolytic activities. Plays hemostatic roles in the blood plasma. Acts as a procoagulant and proinflammatory factor by inhibiting the anticoagulant activated protein C factor as well as the generation of activated protein C factor by the thrombin/thrombomodulin complex. Acts as an anticoagulant factor by inhibiting blood coagulation factors like prothrombin, factor XI, factor Xa, plasma kallikrein and fibrinolytic enzymes such as tissue- and urinary-type plasminogen activators. In seminal plasma, inactivates several serine proteases implicated in the reproductive system. Inhibits the serpin acrosin; indirectly protects component of the male genital tract from being degraded by excessive released acrosin. Inhibits tissue-and urinary-type plasminogen activator, prostate-specific antigen and kallikrein activities; has a control on the sperm motility and fertilization. Inhibits the activated protein C-catalyzed degradation of SEMG1 and SEMG2; regulates the degradation of semenogelin during the process of transfer of spermatozoa from the male reproductive tract into the female tract. In urine, inhibits urinary-type plasminogen activator and kallikrein activities. Inactivates membrane-anchored serine proteases activities such as MPRSS7 and TMPRSS11E. Inhibits urinary-type plasminogen activator-dependent tumor cell invasion and metastasis. May also play a non-inhibitory role in seminal plasma and urine as a hydrophobic hormone carrier by its binding to retinoic acid. N- and O-glycosylated. N-glycosylation consists of a mixture of sialylated bi- (including sialyl-Lewis X epitopes), tri- and tetra-antennary complex-type chains; affects the maximal heparin- and thrombomodulin-enhanced rates of thrombin inhibition. O-glycosylated with core 1 or possibly core 8 glycans. Further modified with 2 sialic acid residues.;Proteolytically cleaved. Inhibition of proteases is accompanied by formation of a stable enzyme-inhibitor complex and by degradation of the serpin to lower molecular weight derivatives. Proteolytically cleaved at the N-terminus; inhibits slightly the heparin- and thrombomodulin-enhanced rates of thrombin inhibition. Belongs to the serpin family. Complement and coagulation cascades;Common Pathway of Fibrin Clot Formation;Intrinsic Pathway of Fibrin Clot Formation PE1 14 +NX_P05155 Plasma protease C1 inhibitor 500 55154 6.09 0 Secreted Hereditary angioedema Activation of the C1 complex is under control of the C1-inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein. Can be proteolytically cleaved by E.coli stcE.;Highly glycosylated (49%) with N- and O-glycosylation. O-glycosylated with core 1 or possibly core 8 glycans. N-glycan heterogeneity at Asn-25: Hex5HexNAc4 (minor), dHex1Hex5HexNAc4 (minor), Hex6HexNAc5 (major) and dHex1Hex6HexNAc5 (minor). Belongs to the serpin family. Complement and coagulation cascades;Pertussis;Regulation of Complement cascade;Platelet degranulation;Intrinsic Pathway of Fibrin Clot Formation PE1 11 +NX_P05156 Complement factor I 583 65750 7.72 0 Secreted;Extracellular space Hemolytic uremic syndrome atypical 3;Complement factor I deficiency;Macular degeneration, age-related, 13 Trypsin-like serine protease that plays an essential role in regulating the immune response by controlling all complement pathways. Inhibits these pathways by cleaving three peptide bonds in the alpha-chain of C3b and two bonds in the alpha-chain of C4b thereby inactivating these proteins (PubMed:7360115, PubMed:17320177). Essential cofactors for these reactions include factor H and C4BP in the fluid phase and membrane cofactor protein/CD46 and CR1 on cell surfaces (PubMed:2141838, PubMed:9605165, PubMed:12055245). The presence of these cofactors on healthy cells allows degradation of deposited C3b by CFI in order to prevent undesired complement activation, while in apoptotic cells or microbes, the absence of such cofactors leads to C3b-mediated complement activation and subsequent opsonization (PubMed:28671664). NA Belongs to the peptidase S1 family. Complement and coagulation cascades;Staphylococcus aureus infection;Regulation of Complement cascade PE1 4 +NX_P05160 Coagulation factor XIII B chain 661 75511 6.01 0 Secreted Factor XIII subunit B deficiency The B chain of factor XIII is not catalytically active, but is thought to stabilize the A subunits and regulate the rate of transglutaminase formation by thrombin. NA NA Complement and coagulation cascades;Common Pathway of Fibrin Clot Formation PE1 1 +NX_P05161 Ubiquitin-like protein ISG15 165 17888 6.83 0 Cytoplasm;Secreted Immunodeficiency 38, with basal ganglia calcification Ubiquitin-like protein which plays a key role in the innate immune response to viral infection either via its conjugation to a target protein (ISGylation) or via its action as a free or unconjugated protein. ISGylation involves a cascade of enzymatic reactions involving E1, E2, and E3 enzymes which catalyze the conjugation of ISG15 to a lysine residue in the target protein. Its target proteins include IFIT1, MX1/MxA, PPM1B, UBE2L6, UBA7, CHMP5, CHMP2A, CHMP4B and CHMP6. Can also isgylate: EIF2AK2/PKR which results in its activation, DDX58/RIG-I which inhibits its function in antiviral signaling response, EIF4E2 which enhances its cap structure-binding activity and translation-inhibition activity, UBE2N and UBE2E1 which negatively regulates their activity, IRF3 which inhibits its ubiquitination and degradation and FLNB which prevents its ability to interact with the upstream activators of the JNK cascade thereby inhibiting IFNA-induced JNK signaling. Exhibits antiviral activity towards both DNA and RNA viruses, including influenza A, HIV-1 and Ebola virus. Restricts HIV-1 and ebola virus via disruption of viral budding. Inhibits the ubiquitination of HIV-1 Gag and host TSG101 and disrupts their interaction, thereby preventing assembly and release of virions from infected cells. Inhibits Ebola virus budding mediated by the VP40 protein by disrupting ubiquitin ligase activity of NEDD4 and its ability to ubiquitinate VP40. ISGylates influenza A virus NS1 protein which causes a loss of function of the protein and the inhibition of virus replication. The secreted form of ISG15 can: induce natural killer cell proliferation, act as a chemotactic factor for neutrophils and act as a IFN-gamma-inducing cytokine playing an essential role in antimycobacterial immunity. The secreted form acts through the integrin ITGAL/ITGB2 receptor to initiate activation of SRC family tyrosine kinases including LYN, HCK and FGR which leads to secretion of IFNG and IL10; the interaction is mediated by ITGAL (PubMed:29100055). S-nitrosylation decreases its dimerization, thereby increasing the availability as well as the solubility of monomeric ISG15 for its conjugation to cellular proteins.;Induced as an inactive, precursor protein that is cleaved by specific proteases to expose the C-terminal diglycine (LRLRGG) motif. This motif is essential not only for its conjugation to substrates but also for its recognition by the relevant processing proteases. NA RIG-I-like receptor signaling pathway;ISG15 antiviral mechanism;Interferon alpha/beta signaling;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Negative regulators of DDX58/IFIH1 signaling;Termination of translesion DNA synthesis;NS1 Mediated Effects on Host Pathways PE1 1 +NX_P05162 Galectin-2 132 14644 5.93 0 Nucleoplasm;Mitochondrion NA This protein binds beta-galactoside. Its physiological function is not yet known. NA NA NA PE1 22 +NX_P05164 Myeloperoxidase 745 83869 9.19 0 Cytoplasmic vesicle;Nucleoplasm;Lysosome Myeloperoxidase deficiency Part of the host defense system of polymorphonuclear leukocytes. It is responsible for microbicidal activity against a wide range of organisms. In the stimulated PMN, MPO catalyzes the production of hypohalous acids, primarily hypochlorous acid in physiologic situations, and other toxic intermediates that greatly enhance PMN microbicidal activity. NA Belongs to the peroxidase family. XPO subfamily. Phagosome;Neutrophil degranulation;Events associated with phagocytolytic activity of PMN cells PE1 17 +NX_P05165 Propionyl-CoA carboxylase alpha chain, mitochondrial 728 80059 7.24 0 Mitochondrion matrix;Mitochondrion Propionic acidemia type I NA Acetylated. NA Metabolic intermediate metabolism; propanoyl-CoA degradation; succinyl-CoA from propanoyl-CoA: step 1/3.;Valine, leucine and isoleucine degradation;Glyoxylate and dicarboxylate metabolism;Propanoate metabolism;Metabolic pathways;Propionyl-CoA catabolism;Biotin transport and metabolism;Defective HLCS causes multiple carboxylase deficiency PE1 13 +NX_P05166 Propionyl-CoA carboxylase beta chain, mitochondrial 539 58216 7.56 0 Mitochondrion matrix Propionic acidemia type II NA NA Belongs to the AccD/PCCB family. Metabolic intermediate metabolism; propanoyl-CoA degradation; succinyl-CoA from propanoyl-CoA: step 1/3.;Valine, leucine and isoleucine degradation;Glyoxylate and dicarboxylate metabolism;Propanoate metabolism;Metabolic pathways;Propionyl-CoA catabolism;Biotin transport and metabolism;Defective HLCS causes multiple carboxylase deficiency PE1 3 +NX_P05177 Cytochrome P450 1A2 516 58407 9.18 0 Microsome membrane;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:9435160, PubMed:10681376, PubMed:11555828, PubMed:12865317, PubMed:19965576). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:9435160, PubMed:10681376, PubMed:11555828, PubMed:12865317, PubMed:19965576). Catalyzes the hydroxylation of carbon-hydrogen bonds (PubMed:11555828, PubMed:12865317). Exhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2-hydroxy E1 and E2 (PubMed:11555828, PubMed:12865317). Metabolizes cholesterol toward 25-hydroxycholesterol, a physiological regulator of cellular cholesterol homeostasis (PubMed:21576599). May act as a major enzyme for all-trans retinoic acid biosynthesis in the liver. Catalyzes two successive oxidative transformation of all-trans retinol to all-trans retinal and then to the active form all-trans retinoic acid (PubMed:10681376). Primarily catalyzes stereoselective epoxidation of the last double bond of polyunsaturated fatty acids (PUFA), displaying a strong preference for the (R,S) stereoisomer (PubMed:19965576). Catalyzes bisallylic hydroxylation and omega-1 hydroxylation of PUFA (PubMed:9435160). May also participate in eicosanoids metabolism by converting hydroperoxide species into oxo metabolites (lipoxygenase-like reaction, NADPH-independent) (PubMed:21068195). Plays a role in the oxidative metabolism of xenobiotics. Catalyzes the N-hydroxylation of heterocyclic amines and the O-deethylation of phenacetin (PubMed:14725854). Metabolizes caffeine via N3-demethylation (Probable). NA Belongs to the cytochrome P450 family. Cofactor metabolism; retinol metabolism.;Lipid metabolism; arachidonate metabolism.;Steroid metabolism; cholesterol metabolism.;Caffeine metabolism;Tryptophan metabolism;Linoleic acid metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;Methylation;Aflatoxin activation and detoxification;Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET);Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE);Aromatic amines can be N-hydroxylated or N-dealkylated by CYP1A2;Biosynthesis of maresin-like SPMs;Biosynthesis of protectins PE1 15 +NX_P05181 Cytochrome P450 2E1 493 56849 8.28 0 Microsome membrane;Mitochondrion inner membrane;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of fatty acids (PubMed:10553002, PubMed:18577768). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:10553002, PubMed:18577768). Catalyzes the hydroxylation of carbon-hydrogen bonds. Hydroxylates fatty acids specifically at the omega-1 position displaying the highest catalytic activity for saturated fatty acids (PubMed:10553002, PubMed:18577768). May be involved in the oxidative metabolism of xenobiotics (Probable). NA Belongs to the cytochrome P450 family. Lipid metabolism; fatty acid metabolism.;Arachidonic acid metabolism;Linoleic acid metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;Xenobiotics;CYP2E1 reactions;Biosynthesis of maresin-like SPMs PE1 10 +NX_P05186 Alkaline phosphatase, tissue-nonspecific isozyme 524 57305 6.19 0 Cytosol;Cell membrane Hypophosphatasia infantile type;Hypophosphatasia childhood type;Hypophosphatasia This isozyme plays a key role in skeletal mineralization by regulating levels of diphosphate (PPi). N-glycosylated. Belongs to the alkaline phosphatase family. Folate biosynthesis;Metabolic pathways;Post-translational modification: synthesis of GPI-anchored proteins PE1 1 +NX_P05187 Alkaline phosphatase, placental type 535 57954 5.86 1 Cell membrane NA NA NA Belongs to the alkaline phosphatase family. Folate biosynthesis;Metabolic pathways;Intra-Golgi traffic PE1 2 +NX_P05198 Eukaryotic translation initiation factor 2 subunit 1 315 36112 5.02 0 Cytosol;Stress granule NA Functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S pre-initiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyzed by eIF-2B. Substrate for at least 4 kinases: EIF2AK1/HRI, EIF2AK2/PKR, EIF2AK3/PERK and EIF2AK4/GCN2. Phosphorylation stabilizes the eIF-2/GDP/eIF-2B complex and prevents GDP/GTP exchange reaction, thus impairing the recycling of eIF-2 between successive rounds of initiation and leading to global inhibition of translation (PubMed:15207627, PubMed:18032499). Phosphorylated; phosphorylation on Ser-52 by the EIF2AK4/GCN2 protein kinase occurs in response to amino acid starvation and UV irradiation (By similarity). Belongs to the eIF-2-alpha family. RNA transport;Protein processing in endoplasmic reticulum;Hepatitis C;Measles;Influenza A;Herpes simplex infection;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Recycling of eIF2:GDP;ABC-family proteins mediated transport;PERK regulates gene expression PE1 14 +NX_P05204 Non-histone chromosomal protein HMG-17 90 9393 10 0 Cytoplasm;Nucleus NA Binds to the inner side of the nucleosomal DNA thus altering the interaction between the DNA and the histone octamer. May be involved in the process which maintains transcribable genes in a unique chromatin conformation (By similarity). Phosphorylation favors cytoplasmic localization. Belongs to the HMGN family. NA PE1 1 +NX_P05230 Fibroblast growth factor 1 155 17460 6.52 0 Cytoplasm;Cell cortex;Secreted;Nucleoplasm;Cytosol;Nucleus NA Plays an important role in the regulation of cell survival, cell division, angiogenesis, cell differentiation and cell migration. Functions as potent mitogen in vitro. Acts as a ligand for FGFR1 and integrins. Binds to FGFR1 in the presence of heparin leading to FGFR1 dimerization and activation via sequential autophosphorylation on tyrosine residues which act as docking sites for interacting proteins, leading to the activation of several signaling cascades. Binds to integrin ITGAV:ITGB3. Its binding to integrin, subsequent ternary complex formation with integrin and FGFR1, and the recruitment of PTPN11 to the complex are essential for FGF1 signaling. Induces the phosphorylation and activation of FGFR1, FRS2, MAPK3/ERK1, MAPK1/ERK2 and AKT1 (PubMed:18441324, PubMed:20422052). Can induce angiogenesis (PubMed:23469107). In the nucleus, phosphorylated by PKC/PRKCD. Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;RAF/MAP kinase cascade;FGFR2b ligand binding and activation;PI3K Cascade;PIP3 activates AKT signaling;Signaling by activated point mutants of FGFR1;Signaling by activated point mutants of FGFR3;FGFR4 ligand binding and activation;FGFR3c ligand binding and activation;FGFR1c ligand binding and activation;FGFR2c ligand binding and activation;FGFR3 mutant receptor activation;Activated point mutants of FGFR2;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade: FGFR1;Phospholipase C-mediated cascade, FGFR2;Phospholipase C-mediated cascade, FGFR3;Phospholipase C-mediated cascade, FGFR4;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;SHC-mediated cascade:FGFR3;FRS-mediated FGFR3 signaling;PI-3K cascade:FGFR3;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;PI-3K cascade:FGFR4;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;FGFR1b ligand binding and activation;FGFR3b ligand binding and activation;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Downstream signaling of activated FGFR1;Signaling by FGFR3 point mutants in cancer;Signaling by FGFR2 IIIa TM PE1 5 +NX_P05231 Interleukin-6 212 23718 6.17 0 Cytoplasmic vesicle;Secreted Rheumatoid arthritis systemic juvenile Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation. N- and O-glycosylated. Belongs to the IL-6 superfamily. Cytokine-cytokine receptor interaction;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Jak-STAT signaling pathway;Hematopoietic cell lineage;Intestinal immune network for IgA production;Prion diseases;Salmonella infection;Pertussis;Legionellosis;Chagas disease (American trypanosomiasis);African trypanosomiasis;Malaria;Amoebiasis;Tuberculosis;Measles;Influenza A;HTLV-I infection;Herpes simplex infection;Senescence-Associated Secretory Phenotype (SASP);Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);MAPK3 (ERK1) activation;Interleukin-6 signaling;MAPK1 (ERK2) activation;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling;Post-translational protein phosphorylation PE1 7 +NX_P05305 Endothelin-1 212 24425 9.52 0 Golgi apparatus;Nucleoplasm;Secreted;Nucleolus Auriculocondylar syndrome 3;Question mark ears, isolated Endothelins are endothelium-derived vasoconstrictor peptides. NA Belongs to the endothelin/sarafotoxin family. Melanogenesis;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 6 +NX_P05362 Intercellular adhesion molecule 1 532 57825 8.31 1 Membrane;Cytosol;Cell membrane NA (Microbial infection) Acts as a receptor for Coxsackievirus A21 capsid proteins.;(Microbial infection) Upon Kaposi's sarcoma-associated herpesvirus/HHV-8 infection, is degraded by viral E3 ubiquitin ligase MIR2, presumably to prevent lysis of infected cells by cytotoxic T-lymphocytes and NK cell.;ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). During leukocyte trans-endothelial migration, ICAM1 engagement promotes the assembly of endothelial apical cups through ARHGEF26/SGEF and RHOG activation.;(Microbial infection) Acts as a receptor for major receptor group rhinovirus A-B capsid proteins. Monoubiquitinated, which is promoted by MARCH9 and leads to endocytosis. Belongs to the immunoglobulin superfamily. ICAM family. Cell adhesion molecules (CAMs);Natural killer cell mediated cytotoxicity;Leukocyte transendothelial migration;African trypanosomiasis;Malaria;Staphylococcus aureus infection;Influenza A;HTLV-I infection;Rheumatoid arthritis;Viral myocarditis;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Interferon gamma signaling;Integrin cell surface interactions;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling PE1 19 +NX_P05386 60S acidic ribosomal protein P1 114 11514 4.26 0 Endoplasmic reticulum;Cytosol;Cytoplasm NA Plays an important role in the elongation step of protein synthesis. NA Belongs to the eukaryotic ribosomal protein P1/P2 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 15 +NX_P05387 60S acidic ribosomal protein P2 115 11665 4.42 0 Cytoplasm;Mitochondrion NA Plays an important role in the elongation step of protein synthesis. RPLP2 is phosphorylated by MAPK3 Belongs to the eukaryotic ribosomal protein P1/P2 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 11 +NX_P05388 60S acidic ribosomal protein P0 317 34274 5.72 0 Cytoplasm;Nucleus NA Ribosomal protein P0 is the functional equivalent of E.coli protein L10. RPLP0 is phosphorylated by MAPK3 Belongs to the universal ribosomal protein uL10 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 12 +NX_P05408 Neuroendocrine protein 7B2 212 23730 5.62 0 Secreted NA Acts as a molecular chaperone for PCSK2/PC2, preventing its premature activation in the regulated secretory pathway. Binds to inactive PCSK2 in the endoplasmic reticulum and facilitates its transport from there to later compartments of the secretory pathway where it is proteolytically matured and activated. Also required for cleavage of PCSK2 but does not appear to be involved in its folding. Plays a role in regulating pituitary hormone secretion. The C-terminal peptide inhibits PCSK2 in vitro. Proteolytically cleaved in the Golgi by a furin-like convertase to generate bioactive peptides.;Sulfated on tyrosine residues. Belongs to the 7B2 family. NA PE1 15 +NX_P05412 Transcription factor AP-1 331 35676 8.9 0 Nucleoplasm;Nucleus NA Transcription factor that recognizes and binds to the enhancer heptamer motif 5'-TGA[CG]TCA-3' (PubMed:10995748, PubMed:22083952). Promotes activity of NR5A1 when phosphorylated by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation (PubMed:17210646). Involved in activated KRAS-mediated transcriptional activation of USP28 in colorectal cancer (CRC) cells (PubMed:24623306). Binds to the USP28 promoter in colorectal cancer (CRC) cells (PubMed:24623306). Acetylated at Lys-271 by EP300.;Ubiquitinated by the SCF(FBXW7), leading to its degradation (PubMed:14739463, PubMed:27458189). Ubiquitination takes place following phosphorylation, that promotes interaction with FBXW7 (PubMed:14739463).;Phosphorylated by CaMK4 and PRKDC; phosphorylation enhances the transcriptional activity. Phosphorylated by HIPK3. Phosphorylated by DYRK2 at Ser-243; this primes the protein for subsequent phosphorylation by GSK3B at Thr-239. Phosphorylated at Thr-239, Ser-243 and Ser-249 by GSK3B; phosphorylation reduces its ability to bind DNA. Phosphorylated by PAK2 at Thr-2, Thr-8, Thr-89, Thr-93 and Thr-286 thereby promoting JUN-mediated cell proliferation and transformation. Phosphorylated by PLK3 following hypoxia or UV irradiation, leading to increase DNA-binding activity.;JUN is phosphorylated by IKBKE (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);JUN is phosphorylated by MAPK3;JUN is phosphorylated by GSK3B (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the bZIP family. Jun subfamily. MAPK signaling pathway;ErbB signaling pathway;Wnt signaling pathway;Osteoclast differentiation;Focal adhesion;Toll-like receptor signaling pathway;T cell receptor signaling pathway;B cell receptor signaling pathway;Neurotrophin signaling pathway;GnRH signaling pathway;Epithelial cell signaling in Helicobacter pylori infection;Salmonella infection;Pertussis;Leishmaniasis;Chagas disease (American trypanosomiasis);Influenza A;HTLV-I infection;Herpes simplex infection;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Rheumatoid arthritis;MAPK6/MAPK4 signaling;Oxidative Stress Induced Senescence;FCERI mediated MAPK activation;Senescence-Associated Secretory Phenotype (SASP);Pre-NOTCH Transcription and Translation;Activation of the AP-1 family of transcription factors;Activation of anterior HOX genes in hindbrain development during early embryogenesis;TP53 Regulates Transcription of DNA Repair Genes;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models;Regulation of PTEN gene transcription;Estrogen-dependent gene expression PE1 1 +NX_P05413 Fatty acid-binding protein, heart 133 14858 6.29 0 Golgi apparatus;Cytoplasm;Focal adhesion;Cell membrane NA FABP are thought to play a role in the intracellular transport of long-chain fatty acids and their acyl-CoA esters. NA Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. PPAR signaling pathway;Triglyceride catabolism PE1 1 +NX_P05423 DNA-directed RNA polymerase III subunit RPC4 398 44396 6.51 0 Nucleoplasm;Nucleus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity). NA Belongs to the eukaryotic RPC4/POLR3D RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Cytosolic DNA-sensing pathway;Cytosolic sensors of pathogen-associated DNA;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter PE1 8 +NX_P05451 Lithostathine-1-alpha 166 18731 5.65 0 Secreted NA Might act as an inhibitor of spontaneous calcium carbonate precipitation. May be associated with neuronal sprouting in brain, and with brain and pancreas regeneration. The composition of the O-linked carbohydrate on Thr-27 is complex and varied. In the crystallographic structure, the attached sugar appears to be N-acetylglucosamine, typical of an intracellular protein, rather than N-acetylgalactosamine. NA NA PE1 2 +NX_P05452 Tetranectin 202 22537 5.52 0 Secreted NA Tetranectin binds to plasminogen and to isolated kringle 4. May be involved in the packaging of molecules destined for exocytosis. NA NA Platelet degranulation PE1 3 +NX_P05455 Lupus La protein 408 46837 6.68 0 Nucleoplasm;Nucleus NA Binds to the 3' poly(U) terminus of nascent RNA polymerase III transcripts, protecting them from exonuclease digestion and facilitating their folding and maturation (PubMed:3192525, PubMed:2470590). In case of Coxsackievirus B3 infection, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation (PubMed:12384597). The N-terminus is blocked.;Phosphorylated. The phosphorylation sites are at the C-terminal part of the protein. NA Systemic lupus erythematosus;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation PE1 2 +NX_P05496 ATP synthase F(0) complex subunit C1, mitochondrial 136 14277 9.81 2 Mitochondrion membrane;Mitochondrion NA Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element. Trimethylated by ATPSCKMT at Lys-104. Methylation is required for proper incorporation of the C subunit into the ATP synthase complex and mitochondrial respiration. Belongs to the ATPase C chain family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Mitochondrial protein import;Formation of ATP by chemiosmotic coupling;Cristae formation PE1 17 +NX_P05538 HLA class II histocompatibility antigen, DQ beta 2 chain 268 30387 6.32 1 Endoplasmic reticulum membrane;Cell membrane;Endosome membrane;Lysosome membrane;trans-Golgi network membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. NA Belongs to the MHC class II family. MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_P05543 Thyroxine-binding globulin 415 46325 5.87 0 Secreted NA Major thyroid hormone transport protein in serum. NA Belongs to the serpin family. NA PE1 X +NX_P05546 Heparin cofactor 2 499 57071 6.41 0 Cytoplasmic vesicle Thrombophilia due to heparin cofactor 2 deficiency Peptides at the N-terminal of HC-II have chemotactic activity for both monocytes and neutrophils.;Thrombin inhibitor activated by the glycosaminoglycans, heparin or dermatan sulfate. In the presence of the latter, HC-II becomes the predominant thrombin inhibitor in place of antithrombin III (AT-III). Also inhibits chymotrypsin, but in a glycosaminoglycan-independent manner. Phosphorylated by FAM20C in the extracellular medium. Belongs to the serpin family. Complement and coagulation cascades;Common Pathway of Fibrin Clot Formation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Intrinsic Pathway of Fibrin Clot Formation;Post-translational protein phosphorylation PE1 22 +NX_P05549 Transcription factor AP-2-alpha 437 48062 8.1 0 Nucleoplasm;Nucleus Branchiooculofacial syndrome Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. Together with the CITED2 coactivator, stimulates the PITX2 P1 promoter transcription activation. Associates with chromatin to the PITX2 P1 promoter region. Sumoylated on Lys-10; which inhibits transcriptional activity. Belongs to the AP-2 family. SUMOylation of transcription factors;Activation of the TFAP2 (AP-2) family of transcription factors;TFAP2 (AP-2) family regulates transcription of other transcription factors;TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation;TFAP2 (AP-2) family regulates transcription of growth factors and their receptors;TFAP2 (AP-2) family regulates transcription of cell cycle factors;Negative regulation of activity of TFAP2 (AP-2) family transcription factors;Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors PE1 6 +NX_P05556 Integrin beta-1 798 88415 5.27 1 Cleavage furrow;Cell membrane;Recycling endosome;Cell junction;Focal adhesion;Cell surface;Endoplasmic reticulum;Lamellipodium;Melanosome;Invadopodium membrane;Ruffle;Ruffle membrane;Sarcolemma NA (Microbial infection) Acts as a receptor for Cytomegalovirus/HHV-5.;(Microbial infection) In case of HIV-1 infection, integrin ITGA5:ITGB1 binding to extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions.;(Microbial infection) Acts as a receptor for Mammalian reovirus.;Displaces isoform 1 in striated muscles.;(Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human rotavirus.;(Microbial infection) Acts as a receptor for Epstein-Barr virus/HHV-4.;(Microbial infection) Integrin ITGA5:ITGB1 acts as a receptor for Human parvovirus B19.;(Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human echoviruses 1 and 8.;Integrins alpha-1/beta-1, alpha-2/beta-1, alpha-10/beta-1 and alpha-11/beta-1 are receptors for collagen. Integrins alpha-1/beta-1 and alpha-2/beta-2 recognize the proline-hydroxylated sequence G-F-P-G-E-R in collagen. Integrins alpha-2/beta-1, alpha-3/beta-1, alpha-4/beta-1, alpha-5/beta-1, alpha-8/beta-1, alpha-10/beta-1, alpha-11/beta-1 and alpha-V/beta-1 are receptors for fibronectin. Alpha-4/beta-1 recognizes one or more domains within the alternatively spliced CS-1 and CS-5 regions of fibronectin. Integrin alpha-5/beta-1 is a receptor for fibrinogen. Integrin alpha-1/beta-1, alpha-2/beta-1, alpha-6/beta-1 and alpha-7/beta-1 are receptors for lamimin. Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion (By similarity). Integrin alpha-4/beta-1 is a receptor for VCAM1. It recognizes the sequence Q-I-D-S in VCAM1. Integrin alpha-9/beta-1 is a receptor for VCAM1, cytotactin and osteopontin. It recognizes the sequence A-E-I-D-G-I-E-L in cytotactin. Integrin alpha-3/beta-1 is a receptor for epiligrin, thrombospondin and CSPG4. Alpha-3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration. Integrin alpha-V/beta-1 is a receptor for vitronectin. Beta-1 integrins recognize the sequence R-G-D in a wide array of ligands.;Interferes with isoform 1 resulting in a dominant negative effect on cell adhesion and migration (in vitro). When associated with alpha-7/beta-1 integrin, regulates cell adhesion and laminin matrix deposition. Involved in promoting endothelial cell motility and angiogenesis. Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process and the formation of mineralized bone nodules. May be involved in up-regulation of the activity of kinases such as PKC via binding to KRT1. Together with KRT1 and RACK1, serves as a platform for SRC activation or inactivation. Plays a mechanistic adhesive role during telophase, required for the successful completion of cytokinesis. Integrin alpha-3/beta-1 provides a docking site for FAP (seprase) at invadopodia plasma membranes in a collagen-dependent manner and hence may participate in the adhesion, formation of invadopodia and matrix degradation processes, promoting cell invasion. ITGA4:ITGB1 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415, PubMed:24789099). ITGA4:ITGB1 and ITGA5:ITGB1 bind to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGA5:ITGB1 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). ITGA5:ITGB1 is a receptor for IL1B and binding is essential for IL1B signaling (PubMed:29030430). The cysteine residues are involved in intrachain disulfide bonds. Belongs to the integrin beta chain family. Phagosome;Axon guidance;Focal adhesion;ECM-receptor interaction;Cell adhesion molecules (CAMs);Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Pathogenic Escherichia coli infection;Shigellosis;Pertussis;Leishmaniasis;Toxoplasmosis;Pathways in cancer;Small cell lung cancer;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;RHO GTPases Activate Formins;Signal transduction by L1;Syndecan interactions;Integrin cell surface interactions;Cell surface interactions at the vascular wall;ECM proteoglycans;Molecules associated with elastic fibres;Basigin interactions;Other semaphorin interactions;CHL1 interactions;Elastic fibre formation;Platelet Adhesion to exposed collagen;Laminin interactions;Fibronectin matrix formation;Localization of the PINCH-ILK-PARVIN complex to focal adhesions;MET activates PTK2 signaling;MET interacts with TNS proteins;Interleukin-4 and Interleukin-13 signaling PE1 10 +NX_P05771 Protein kinase C beta type 671 76869 6.57 0 Cytoplasm;Membrane;Nucleoplasm;Cytosol;Nucleus NA Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase involved in various cellular processes such as regulation of the B-cell receptor (BCR) signalosome, oxidative stress-induced apoptosis, androgen receptor-dependent transcription regulation, insulin signaling and endothelial cells proliferation. Plays a key role in B-cell activation by regulating BCR-induced NF-kappa-B activation. Mediates the activation of the canonical NF-kappa-B pathway (NFKB1) by direct phosphorylation of CARD11/CARMA1 at 'Ser-559', 'Ser-644' and 'Ser-652'. Phosphorylation induces CARD11/CARMA1 association with lipid rafts and recruitment of the BCL10-MALT1 complex as well as MAP3K7/TAK1, which then activates IKK complex, resulting in nuclear translocation and activation of NFKB1. Plays a direct role in the negative feedback regulation of the BCR signaling, by down-modulating BTK function via direct phosphorylation of BTK at 'Ser-180', which results in the alteration of BTK plasma membrane localization and in turn inhibition of BTK activity (PubMed:11598012). Involved in apoptosis following oxidative damage: in case of oxidative conditions, specifically phosphorylates 'Ser-36' of isoform p66Shc of SHC1, leading to mitochondrial accumulation of p66Shc, where p66Shc acts as a reactive oxygen species producer. Acts as a coactivator of androgen receptor (ANDR)-dependent transcription, by being recruited to ANDR target genes and specifically mediating phosphorylation of 'Thr-6' of histone H3 (H3T6ph), a specific tag for epigenetic transcriptional activation that prevents demethylation of histone H3 'Lys-4' (H3K4me) by LSD1/KDM1A (PubMed:20228790). In insulin signaling, may function downstream of IRS1 in muscle cells and mediate insulin-dependent DNA synthesis through the RAF1-MAPK/ERK signaling cascade. Participates in the regulation of glucose transport in adipocytes by negatively modulating the insulin-stimulated translocation of the glucose transporter SLC2A4/GLUT4. Phosphorylates SLC2A1/GLUT1, promoting glucose uptake by SLC2A1/GLUT1 (PubMed:25982116). Under high glucose in pancreatic beta-cells, is probably involved in the inhibition of the insulin gene transcription, via regulation of MYC expression. In endothelial cells, activation of PRKCB induces increased phosphorylation of RB1, increased VEGFA-induced cell proliferation, and inhibits PI3K/AKT-dependent nitric oxide synthase (NOS3/eNOS) regulation by insulin, which causes endothelial dysfunction. Also involved in triglyceride homeostasis (By similarity). Phosphorylates ATF2 which promotes cooperation between ATF2 and JUN, activating transcription (PubMed:19176525). Phosphorylation on Thr-500 within the activation loop renders it competent to autophosphorylate. Subsequent autophosphorylation of Thr-642 maintains catalytic competence, and autophosphorylation on Ser-661 appears to release the kinase into the cytosol. Autophosphorylation on other sites i.e. In the N-terminal and hinge regions have no effect on enzyme activity. Phosphorylation at Tyr-662 by SYK induces binding with GRB2 and contributes to the activation of MAPK/ERK signaling cascade (By similarity). Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily. MAPK signaling pathway;ErbB signaling pathway;Calcium signaling pathway;Chemokine signaling pathway;Phosphatidylinositol signaling system;Vascular smooth muscle contraction;Wnt signaling pathway;VEGF signaling pathway;Focal adhesion;Tight junction;Gap junction;Natural killer cell mediated cytotoxicity;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Long-term depression;GnRH signaling pathway;Melanogenesis;Aldosterone-regulated sodium reabsorption;Endocrine and other factor-regulated calcium reabsorption;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Carbohydrate digestion and absorption;Vibrio cholerae infection;Leishmaniasis;African trypanosomiasis;Amoebiasis;Influenza A;Pathways in cancer;Glioma;Non-small cell lung cancer;Activation of NF-kappaB in B cells;G alpha (z) signalling events;WNT5A-dependent internalization of FZD4;Depolymerisation of the Nuclear Lamina;VEGFR2 mediated cell proliferation;RHO GTPases Activate NADPH Oxidases;Disinhibition of SNARE formation;Trafficking of GluR2-containing AMPA receptors;Response to elevated platelet cytosolic Ca2+;RUNX1 regulates transcription of genes involved in differentiation of myeloid cells PE1 16 +NX_P05783 Keratin, type I cytoskeletal 18 430 48058 5.34 0 Cytoplasm;Cytosol;Perinuclear region;Nucleolus Cirrhosis Involved in the uptake of thrombin-antithrombin complexes by hepatic cells (By similarity). When phosphorylated, plays a role in filament reorganization. Involved in the delivery of mutated CFTR to the plasma membrane. Together with KRT8, is involved in interleukin-6 (IL-6)-mediated barrier protection. O-GlcNAcylation increases solubility, and decreases stability by inducing proteasomal degradation.;Phosphorylation at Ser-34 increases during mitosis. Hyperphosphorylated at Ser-53 in diseased cirrhosis liver. Phosphorylation increases by IL-6.;Proteolytically cleaved by caspases during epithelial cell apoptosis. Cleavage occurs at Asp-238 by either caspase-3, caspase-6 or caspase-7.;KRT18 is phosphorylated by PRKCE (Phosphoserine:PTM-0253);KRT18 is phosphorylated by CDK1 Belongs to the intermediate filament family. Pathogenic Escherichia coli infection;Formation of the cornified envelope;Keratinization PE1 12 +NX_P05787 Keratin, type II cytoskeletal 8 483 53704 5.52 0 Cytoplasm;Nucleoplasm;Nucleus matrix;Cytoskeleton Cirrhosis Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle. O-glycosylated (O-GlcNAcylated), in a cell cycle-dependent manner.;O-glycosylated. O-GlcNAcylation at multiple sites increases solubility, and decreases stability by inducing proteasomal degradation.;Phosphorylation on serine residues is enhanced during EGF stimulation and mitosis. Ser-74 phosphorylation plays an important role in keratin filament reorganization.;KRT8 is phosphorylated by PRKCE (Phosphoserine:PTM-0253) Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_P05813 Beta-crystallin A3 215 25150 5.82 0 NA Cataract 10, multiple types Crystallins are the dominant structural components of the vertebrate eye lens. Specific cleavages in the N-terminal arm occur during lens maturation and give rise to several truncated forms. Cleavages do not seem to have adverse effects on solubility.;S-methylation and glutathionylation occur in normal young lenses and do not seem to be detrimental. Belongs to the beta/gamma-crystallin family. NA PE1 17 +NX_P05814 Beta-casein 226 25382 5.52 0 Secreted NA Important role in determination of the surface properties of the casein micelles. Form 1-P is phosphorylated once; half of the molecules are phosphorylated on Ser-24, half on Ser-25. Belongs to the beta-casein family. Nuclear signaling by ERBB4 PE1 4 +NX_P05937 Calbindin 261 30025 4.7 0 Cytoplasmic vesicle NA Buffers cytosolic calcium. May stimulate a membrane Ca(2+)-ATPase and a 3',5'-cyclic nucleotide phosphodiesterase. NA Belongs to the calbindin family. Endocrine and other factor-regulated calcium reabsorption;Amyloid fiber formation PE1 8 +NX_P05976 Myosin light chain 1/3, skeletal muscle isoform 194 21145 4.97 0 NA Myopathy, congenital, with fast-twitch type II fiber atrophy Non-regulatory myosin light chain required for proper formation and/or maintenance of myofibers, and thus appropriate muscle function. Acetylated at position 2. NA Striated Muscle Contraction PE1 2 +NX_P05981 Serine protease hepsin 417 45011 7.8 1 Apical cell membrane;Cell membrane NA Serine protease that cleaves extracellular substrates, and contributes to the proteolytic processing of growth factors, such as HGF and MST1/HGFL (PubMed:21875933, PubMed:15839837). Plays a role in cell growth and maintenance of cell morphology (PubMed:8346233, PubMed:21875933). Plays a role in the proteolytic processing of ACE2 (PubMed:24227843). Mediates the proteolytic cleavage of urinary UMOD that is required for UMOD polymerization (PubMed:26673890). NA Belongs to the peptidase S1 family. Signaling by MST1;MET Receptor Activation PE1 19 +NX_P05997 Collagen alpha-2(V) chain 1499 144910 6.07 0 Extracellular matrix Ehlers-Danlos syndrome, classic type, 2 Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue-specific matrices (By similarity). Prolines at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the chains. Probably 3-hydroxylated on Pro-919 and Pro-1156 by LEPREL1. Belongs to the fibrillar collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Amoebiasis;Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Syndecan interactions;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Non-integrin membrane-ECM interactions;Extracellular matrix organization;MET activates PTK2 signaling;Collagen chain trimerization PE1 2 +NX_P06028 Glycophorin-B 91 9782 9.43 1 Cell membrane NA This protein is a minor sialoglycoprotein in erythrocyte membranes. The N-terminal extracellular domain is heavily glycosylated on serine and threonine residues. Belongs to the glycophorin-A family. Malaria;Cell surface interactions at the vascular wall PE1 4 +NX_P06126 T-cell surface glycoprotein CD1a 327 37077 6.3 1 Endosome membrane;Membrane raft;Cell membrane NA Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells. NA NA Hematopoietic cell lineage;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 1 +NX_P06127 T-cell surface glycoprotein CD5 495 54578 8.59 1 Cell membrane NA May act as a receptor in regulating T-cell proliferation. Phosphorylated on tyrosine residues by LYN; this creates binding sites for PTPN6/SHP-1.;CD5 is phosphorylated by ITK NA Hematopoietic cell lineage PE1 11 +NX_P06132 Uroporphyrinogen decarboxylase 367 40787 5.77 0 Nucleoplasm;Cytoplasm;Cytosol Familial porphyria cutanea tarda;Hepatoerythropoietic porphyria Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III. NA Belongs to the uroporphyrinogen decarboxylase family. Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 4/4.;Porphyrin and chlorophyll metabolism;Metabolic pathways;Heme biosynthesis PE1 1 +NX_P06133 UDP-glucuronosyltransferase 2B4 528 60513 8.7 1 Microsome membrane;Endoplasmic reticulum membrane NA UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme is active on polyhydroxylated estrogens (such as estriol, 4-hydroxyestrone and 2-hydroxyestriol) and xenobiotics (such as 4-methylumbelliferone, 1-naphthol, 4-nitrophenol, 2-aminophenol, 4-hydroxybiphenyl and menthol). It is capable of 6 alpha-hydroxyglucuronidation of hyodeoxycholic acid. NA Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Bile secretion;Glucuronidation PE1 4 +NX_P06213 Insulin receptor 1382 156333 5.83 1 Cytoplasmic vesicle;Lysosome;Late endosome;Cell membrane Familial hyperinsulinemic hypoglycemia 5;Leprechaunism;Rabson-Mendenhall syndrome;Diabetes mellitus, non-insulin-dependent;Insulin-resistant diabetes mellitus with acanthosis nigricans type A Receptor tyrosine kinase which mediates the pleiotropic actions of insulin. Binding of insulin leads to phosphorylation of several intracellular substrates, including, insulin receptor substrates (IRS1, 2, 3, 4), SHC, GAB1, CBL and other signaling intermediates. Each of these phosphorylated proteins serve as docking proteins for other signaling proteins that contain Src-homology-2 domains (SH2 domain) that specifically recognize different phosphotyrosine residues, including the p85 regulatory subunit of PI3K and SHP2. Phosphorylation of IRSs proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway, which is responsible for most of the metabolic actions of insulin, and the Ras-MAPK pathway, which regulates expression of some genes and cooperates with the PI3K pathway to control cell growth and differentiation. Binding of the SH2 domains of PI3K to phosphotyrosines on IRS1 leads to the activation of PI3K and the generation of phosphatidylinositol-(3, 4, 5)-triphosphate (PIP3), a lipid second messenger, which activates several PIP3-dependent serine/threonine kinases, such as PDPK1 and subsequently AKT/PKB. The net effect of this pathway is to produce a translocation of the glucose transporter SLC2A4/GLUT4 from cytoplasmic vesicles to the cell membrane to facilitate glucose transport. Moreover, upon insulin stimulation, activated AKT/PKB is responsible for: anti-apoptotic effect of insulin by inducing phosphorylation of BAD; regulates the expression of gluconeogenic and lipogenic enzymes by controlling the activity of the winged helix or forkhead (FOX) class of transcription factors. Another pathway regulated by PI3K-AKT/PKB activation is mTORC1 signaling pathway which regulates cell growth and metabolism and integrates signals from insulin. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2 thereby activating mTORC1 pathway. The Ras/RAF/MAP2K/MAPK pathway is mainly involved in mediating cell growth, survival and cellular differentiation of insulin. Phosphorylated IRS1 recruits GRB2/SOS complex, which triggers the activation of the Ras/RAF/MAP2K/MAPK pathway. In addition to binding insulin, the insulin receptor can bind insulin-like growth factors (IGFI and IGFII).;Has a higher affinity for IGFII binding. When present in a hybrid receptor with IGF1R, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1, IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both bind IGF1 and have a low affinity for insulin. In adipocytes, inhibits lipolysis (By similarity). After being transported from the endoplasmic reticulum to the Golgi apparatus, the single glycosylated precursor is further glycosylated and then cleaved, followed by its transport to the plasma membrane.;Autophosphorylated on tyrosine residues in response to insulin. Phosphorylation of Tyr-999 is required for binding to IRS1, SHC1 and STAT5B. Dephosphorylated by PTPRE at Tyr-999, Tyr-1185, Tyr-1189 and Tyr-1190. Dephosphorylated by PTPRF and PTPN1. Dephosphorylated by PTPN2; down-regulates insulin-induced signaling. Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. Adherens junction;Insulin signaling pathway;Type II diabetes mellitus;Aldosterone-regulated sodium reabsorption;Insulin receptor recycling;IRS activation;Signal attenuation;Insulin receptor signalling cascade;Signaling by Insulin receptor;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 19 +NX_P06239 Tyrosine-protein kinase Lck 509 58001 5.23 0 Golgi apparatus;Cytoplasm;Cell membrane Immunodeficiency 22 Non-receptor tyrosine-protein kinase that plays an essential role in the selection and maturation of developing T-cells in the thymus and in the function of mature T-cells. Plays a key role in T-cell antigen receptor (TCR)-linked signal transduction pathways. Constitutively associated with the cytoplasmic portions of the CD4 and CD8 surface receptors. Association of the TCR with a peptide antigen-bound MHC complex facilitates the interaction of CD4 and CD8 with MHC class II and class I molecules, respectively, thereby recruiting the associated LCK protein to the vicinity of the TCR/CD3 complex. LCK then phosphorylates tyrosine residues within the immunoreceptor tyrosine-based activation motifs (ITAM) of the cytoplasmic tails of the TCR-gamma chains and CD3 subunits, initiating the TCR/CD3 signaling pathway. Once stimulated, the TCR recruits the tyrosine kinase ZAP70, that becomes phosphorylated and activated by LCK. Following this, a large number of signaling molecules are recruited, ultimately leading to lymphokine production. LCK also contributes to signaling by other receptor molecules. Associates directly with the cytoplasmic tail of CD2, which leads to hyperphosphorylation and activation of LCK. Also plays a role in the IL2 receptor-linked signaling pathway that controls the T-cell proliferative response. Binding of IL2 to its receptor results in increased activity of LCK. Is expressed at all stages of thymocyte development and is required for the regulation of maturation events that are governed by both pre-TCR and mature alpha beta TCR. Phosphorylates other substrates including RUNX3, PTK2B/PYK2, the microtubule-associated protein MAPT, RHOH or TYROBP. Interacts with FYB2 (PubMed:27335501). Palmitoylation regulates subcellular location.;Myristoylation is required prior to palmitoylation.;Autophosphorylated on Tyr-394, increasing enzymatic activity, this site is dephosphorylated by PTN22. Phosphorylated on Tyr-505 by CSK, decreasing activity. Dephosphorylated by PTPRC/CD45. Dephosphorylation at Tyr-394 by PTPN2 negatively regulates T-cell receptor signaling.;LCK is phosphorylated by CDK1 Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily. Osteoclast differentiation;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;HTLV-I infection;Primary immunodeficiency;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;GPVI-mediated activation cascade;DAP12 signaling;CD28 dependent PI3K/Akt signaling;Signaling by SCF-KIT;Regulation of KIT signaling;CD28 co-stimulation;CD28 dependent Vav1 pathway;Nef Mediated CD4 Down-regulation;Nef and signal transduction;PECAM1 interactions;CTLA4 inhibitory signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Interleukin-2 signaling PE1 1 +NX_P06241 Tyrosine-protein kinase Fyn 537 60762 6.23 0 Cytoplasm;Cytosol;Nucleus;Cell membrane NA Non-receptor tyrosine-protein kinase that plays a role in many biological processes including regulation of cell growth and survival, cell adhesion, integrin-mediated signaling, cytoskeletal remodeling, cell motility, immune response and axon guidance. Inactive FYN is phosphorylated on its C-terminal tail within the catalytic domain. Following activation by PKA, the protein subsequently associates with PTK2/FAK1, allowing PTK2/FAK1 phosphorylation, activation and targeting to focal adhesions. Involved in the regulation of cell adhesion and motility through phosphorylation of CTNNB1 (beta-catenin) and CTNND1 (delta-catenin). Regulates cytoskeletal remodeling by phosphorylating several proteins including the actin regulator WAS and the microtubule-associated proteins MAP2 and MAPT. Promotes cell survival by phosphorylating AGAP2/PIKE-A and preventing its apoptotic cleavage. Participates in signal transduction pathways that regulate the integrity of the glomerular slit diaphragm (an essential part of the glomerular filter of the kidney) by phosphorylating several slit diaphragm components including NPHS1, KIRREL1 and TRPC6. Plays a role in neural processes by phosphorylating DPYSL2, a multifunctional adapter protein within the central nervous system, ARHGAP32, a regulator for Rho family GTPases implicated in various neural functions, and SNCA, a small pre-synaptic protein. Participates in the downstream signaling pathways that lead to T-cell differentiation and proliferation following T-cell receptor (TCR) stimulation. Phosphorylates PTK2B/PYK2 in response to T-cell receptor activation. Also participates in negative feedback regulation of TCR signaling through phosphorylation of PAG1, thereby promoting interaction between PAG1 and CSK and recruitment of CSK to lipid rafts. CSK maintains LCK and FYN in an inactive form. Promotes CD28-induced phosphorylation of VAV1. Palmitoylation at Cys-3 and Cys-6 regulates subcellular location.;Autophosphorylated at Tyr-420 (By similarity). Phosphorylation on the C-terminal tail at Tyr-531 by CSK maintains the enzyme in an inactive state (PubMed:1699196). PTPRC/CD45 dephosphorylates Tyr-531 leading to activation (PubMed:1533589). Ultraviolet B (UVB) strongly increase phosphorylation at Thr-12 and kinase activity, and promotes translocation from the cytoplasm to the nucleus (PubMed:15537652). Dephosphorylation at Tyr-420 by PTPN2 negatively regulates T-cell receptor signaling (PubMed:22080863). Phosphorylated at tyrosine residues, which can be enhanced by NTN1 (By similarity).;FYN is phosphorylated by PRKCH;FYN is phosphorylated by CSK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily. Axon guidance;Osteoclast differentiation;Focal adhesion;Adherens junction;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;Fc epsilon RI signaling pathway;Cholinergic synapse;Prion diseases;Pathogenic Escherichia coli infection;Measles;Viral myocarditis;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Role of LAT2/NTAL/LAB on calcium mobilization;GPVI-mediated activation cascade;EPH-Ephrin signaling;EPHB-mediated forward signaling;Ephrin signaling;EPH-ephrin mediated repulsion of cells;DAP12 signaling;VEGFA-VEGFR2 Pathway;EPHA-mediated growth cone collapse;CD28 dependent PI3K/Akt signaling;Signaling by ERBB2;SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion;Cell surface interactions at the vascular wall;Signaling by SCF-KIT;Regulation of KIT signaling;CD28 co-stimulation;CD28 dependent Vav1 pathway;Dectin-2 family;Sema3A PAK dependent Axon repulsion;CRMPs in Sema3A signaling;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;CD209 (DC-SIGN) signaling;Nephrin family interactions;FCGR activation;Nef and signal transduction;PECAM1 interactions;NCAM signaling for neurite out-growth;CTLA4 inhibitory signaling;DCC mediated attractive signaling;Platelet Adhesion to exposed collagen;Regulation of signaling by CBL;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Reelin signalling pathway;NTRK2 activates RAC1;Activated NTRK2 signals through FYN;FLT3 Signaling PE1 6 +NX_P06276 Cholinesterase 602 68418 7.12 0 Secreted Butyrylcholinesterase deficiency Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters. N-glycosylated. No other PTM detected (PubMed:20946535). The major N-glycan structures are of the complex diantennary type with 1 and 2 N-acetylneuraminic acid molecules (Neu5Ac) making up approximately 33% and 47% of the total N-glycans, respectively. Only low amounts of fucosylated diantennary N-glycans are detected (approximately 2%). Triantennary N-glycans with or without fucose amount to approximately 13%, whereas 5% of the total N-glycans are of the oligomannosidic or hybrid type. Belongs to the type-B carboxylesterase/lipase family. Synthesis of PC;Synthesis, secretion, and deacylation of Ghrelin;Neurotransmitter clearance PE1 3 +NX_P06280 Alpha-galactosidase A 429 48767 5.35 0 Lysosome Fabry disease NA NA Belongs to the glycosyl hydrolase 27 family. Galactose metabolism;Glycerolipid metabolism;Sphingolipid metabolism;Glycosphingolipid biosynthesis - globo series;Lysosome;Glycosphingolipid metabolism;Neutrophil degranulation PE1 X +NX_P06307 Cholecystokinin 115 12669 9.18 0 Secreted NA This peptide hormone induces gall bladder contraction and the release of pancreatic enzymes in the gut. Its function in the brain is not clear. Binding to CCK-A receptors stimulates amylase release from the pancreas, binding to CCK-B receptors stimulates gastric acid secretion. The precursor is cleaved by proteases to produce a number of active cholecystokinins. Belongs to the gastrin/cholecystokinin family. Peptide ligand-binding receptors;G alpha (q) signalling events PE1 3 +NX_P06310 Immunoglobulin kappa variable 2-30 120 13185 8.71 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P06312 Immunoglobulin kappa variable 4-1 121 13380 5.09 0 Secreted;Cell membrane NA V segment of the variable domain of immunoglobulins light chain that participates to the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P06315 Immunoglobulin kappa variable 5-2 115 12728 4.21 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 2 +NX_P06331 Immunoglobulin heavy variable 4-34 123 13815 9.39 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 14 +NX_P06340 HLA class II histocompatibility antigen, DO alpha chain 250 27599 5.57 1 Lysosome membrane;Endosome membrane NA Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the HLA-DM molecule in B-cells. Modifies peptide exchange activity of HLA-DM. NA Belongs to the MHC class II family. Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Intestinal immune network for IgA production;Type I diabetes mellitus;Leishmaniasis;Toxoplasmosis;Staphylococcus aureus infection;Tuberculosis;Influenza A;HTLV-I infection;Herpes simplex infection;Asthma;Autoimmune thyroid disease;Systemic lupus erythematosus;Rheumatoid arthritis;Allograft rejection;Graft-versus-host disease;Viral myocarditis;MHC class II antigen presentation PE1 6 +NX_P06396 Gelsolin 782 85698 5.9 0 Secreted;Cytoskeleton Amyloidosis 5 Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed. Plays a role in ciliogenesis. Phosphorylation on Tyr-86, Tyr-409, Tyr-465, Tyr-603 and Tyr-651 in vitro is induced in presence of phospholipids.;GSN is phosphorylated by TNIK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the villin/gelsolin family. Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Amyloid fiber formation;Caspase-mediated cleavage of cytoskeletal proteins;Neutrophil degranulation PE1 9 +NX_P06400 Retinoblastoma-associated protein 928 106159 8.13 0 Nucleoplasm;Nucleus Osteogenic sarcoma;Bladder cancer;Childhood cancer retinoblastoma (Microbial infection) In case of viral infections, interactions with SV40 large T antigen, HPV E7 protein or adenovirus E1A protein induce the disassembly of RB1-E2F1 complex thereby disrupting RB1's activity.;Key regulator of entry into cell division that acts as a tumor suppressor. Promotes G0-G1 transition when phosphorylated by CDK3/cyclin-C. Acts as a transcription repressor of E2F1 target genes. The underphosphorylated, active form of RB1 interacts with E2F1 and represses its transcription activity, leading to cell cycle arrest. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases SUV39H1, KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Inhibits the intrinsic kinase activity of TAF1. Mediates transcriptional repression by SMARCA4/BRG1 by recruiting a histone deacetylase (HDAC) complex to the c-FOS promoter. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex (By similarity). Acetylation at Lys-873 and Lys-874 regulates subcellular localization, at least during keratinocytes differentiation.;N-terminus is methylated by METTL11A/NTM1 (By similarity). Monomethylation at Lys-810 by SMYD2 enhances phosphorylation at Ser-807 and Ser-811, and promotes cell cycle progression. Monomethylation at Lys-860 by SMYD2 promotes interaction with L3MBTL1.;Phosphorylated by CDK6 and CDK4, and subsequently by CDK2 at Ser-567 in G1, thereby releasing E2F1 which is then able to activate cell growth. Dephosphorylated at the late M phase. SV40 large T antigen, HPV E7 and adenovirus E1A bind to the underphosphorylated, active form of pRb. Phosphorylation at Thr-821 and Thr-826 promotes interaction between the C-terminal domain C and the Pocket domain, and thereby inhibits interactions with heterodimeric E2F/DP transcription factor complexes. Dephosphorylated at Ser-795 by calcineruin upon calcium stimulation. CDK3/cyclin-C-mediated phosphorylation at Ser-807 and Ser-811 is required for G0-G1 transition. Phosphorylated by CDK1 and CDK2 upon TGFB1-mediated apoptosis (By similarity).;RB1 is phosphorylated by CDK9 Belongs to the retinoblastoma protein (RB) family. Cell cycle;HTLV-I infection;Pathways in cancer;Pancreatic cancer;Glioma;Prostate cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;Formation of Senescence-Associated Heterochromatin Foci (SAHF);Condensation of Prophase Chromosomes;Cyclin E associated events during G1/S transition;Oncogene Induced Senescence;Cyclin A:Cdk2-associated events at S phase entry;Inhibition of replication initiation of damaged DNA by RB1/E2F1;Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes;Cyclin D associated events in G1;RUNX2 regulates osteoblast differentiation PE1 13 +NX_P06401 Progesterone receptor 933 98981 6.09 0 Mitochondrion outer membrane;Cytoplasm;Nucleus NA Ligand-dependent transdominant repressor of steroid hormone receptor transcriptional activity including repression of its isoform B, MR and ER. Transrepressional activity may involve recruitment of corepressor NCOR2.;Increases mitochondrial membrane potential and cellular respiration upon stimulation by progesterone.;Transcriptional activator of several progesteron-dependent promoters in a variety of cell types. Involved in activation of SRC-dependent MAPK signaling on hormone stimulation.;The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Depending on the isoform, progesterone receptor functions as transcriptional activator or repressor. Palmitoylated by ZDHHC7 and ZDHHC21. Palmitoylation is required for plasma membrane targeting and for rapid intracellular signaling via ERK and AKT kinases and cAMP generation.;Phosphorylated on multiple serine sites. Several of these sites are hormone-dependent. Phosphorylation on Ser-294 occurs preferentially on isoform B, is highly hormone-dependent and modulates ubiquitination and sumoylation on Lys-388. Phosphorylation on Ser-102 and Ser-345 also requires induction by hormone. Basal phosphorylation on Ser-81, Ser-162, Ser-190 and Ser-400 is increased in response to progesterone and can be phosphorylated in vitro by the CDK2-A1 complex. Increased levels of phosphorylation on Ser-400 also in the presence of EGF, heregulin, IGF, PMA and FBS. Phosphorylation at this site by CDK2 is ligand-independent, and increases nuclear translocation and transcriptional activity. Phosphorylation at Ser-162 and Ser-294, but not at Ser-190, is impaired during the G(2)/M phase of the cell cycle. Phosphorylation on Ser-345 by ERK1/2 MAPK is required for interaction with SP1.;Ubiquitination is hormone-dependent and represses sumoylation on the same site. Promoted by MAPK-mediated phosphorylation on Ser-294.;Sumoylation is hormone-dependent and represses transcriptional activity. Sumoylation on all three sites is enhanced by PIAS3. Desumoylated by SENP1. Sumoylation on Lys-388, the main site of sumoylation, is repressed by ubiquitination on the same site, and modulated by phosphorylation at Ser-294. Belongs to the nuclear hormone receptor family. NR3 subfamily. Oocyte meiosis;Progesterone-mediated oocyte maturation;Nuclear signaling by ERBB4;Nuclear Receptor transcription pathway;HSP90 chaperone cycle for steroid hormone receptors (SHR);Estrogen-dependent gene expression;SUMOylation of intracellular receptors PE1 11 +NX_P06454 Prothymosin alpha 111 12203 3.69 0 Nucleoplasm;Cytosol;Nucleus NA Prothymosin alpha may mediate immune function by conferring resistance to certain opportunistic infections. Covalently linked to a small RNA of about 20 nucleotides. Belongs to the pro/parathymosin family. NA PE1 2 +NX_P06493 Cyclin-dependent kinase 1 297 34095 8.38 0 Cytoplasm;Mitochondrion;Nucleoplasm;Centrosome;Cytosol;Spindle;Nucleus NA (Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry.;Plays a key role in the control of the eukaryotic cell cycle by modulating the centrosome cycle as well as mitotic onset; promotes G2-M transition, and regulates G1 progress and G1-S transition via association with multiple interphase cyclins. Required in higher cells for entry into S-phase and mitosis. Phosphorylates PARVA/actopaxin, APC, AMPH, APC, BARD1, Bcl-xL/BCL2L1, BRCA2, CALD1, CASP8, CDC7, CDC20, CDC25A, CDC25C, CC2D1A, CENPA, CSNK2 proteins/CKII, FZR1/CDH1, CDK7, CEBPB, CHAMP1, DMD/dystrophin, EEF1 proteins/EF-1, EZH2, KIF11/EG5, EGFR, FANCG, FOS, GFAP, GOLGA2/GM130, GRASP1, UBE2A/hHR6A, HIST1H1 proteins/histone H1, HMGA1, HIVEP3/KRC, LMNA, LMNB, LMNC, LBR, LATS1, MAP1B, MAP4, MARCKS, MCM2, MCM4, MKLP1, MYB, NEFH, NFIC, NPC/nuclear pore complex, PITPNM1/NIR2, NPM1, NCL, NUCKS1, NPM1/numatrin, ORC1, PRKAR2A, EEF1E1/p18, EIF3F/p47, p53/TP53, NONO/p54NRB, PAPOLA, PLEC/plectin, RB1, UL40/R2, RAB4A, RAP1GAP, RCC1, RPS6KB1/S6K1, KHDRBS1/SAM68, ESPL1, SKI, BIRC5/survivin, STIP1, TEX14, beta-tubulins, MAPT/TAU, NEDD1, VIM/vimentin, TK1, FOXO1, RUNX1/AML1, SAMHD1, SIRT2 and RUNX2. CDK1/CDC2-cyclin-B controls pronuclear union in interphase fertilized eggs. Essential for early stages of embryonic development. During G2 and early mitosis, CDC25A/B/C-mediated dephosphorylation activates CDK1/cyclin complexes which phosphorylate several substrates that trigger at least centrosome separation, Golgi dynamics, nuclear envelope breakdown and chromosome condensation. Once chromosomes are condensed and aligned at the metaphase plate, CDK1 activity is switched off by WEE1- and PKMYT1-mediated phosphorylation to allow sister chromatid separation, chromosome decondensation, reformation of the nuclear envelope and cytokinesis. Inactivated by PKR/EIF2AK2- and WEE1-mediated phosphorylation upon DNA damage to stop cell cycle and genome replication at the G2 checkpoint thus facilitating DNA repair. Reactivated after successful DNA repair through WIP1-dependent signaling leading to CDC25A/B/C-mediated dephosphorylation and restoring cell cycle progression. In proliferating cells, CDK1-mediated FOXO1 phosphorylation at the G2-M phase represses FOXO1 interaction with 14-3-3 proteins and thereby promotes FOXO1 nuclear accumulation and transcription factor activity, leading to cell death of postmitotic neurons. The phosphorylation of beta-tubulins regulates microtubule dynamics during mitosis. NEDD1 phosphorylation promotes PLK1-mediated NEDD1 phosphorylation and subsequent targeting of the gamma-tubulin ring complex (gTuRC) to the centrosome, an important step for spindle formation. In addition, CC2D1A phosphorylation regulates CC2D1A spindle pole localization and association with SCC1/RAD21 and centriole cohesion during mitosis. The phosphorylation of Bcl-xL/BCL2L1 after prolongated G2 arrest upon DNA damage triggers apoptosis. In contrast, CASP8 phosphorylation during mitosis prevents its activation by proteolysis and subsequent apoptosis. This phosphorylation occurs in cancer cell lines, as well as in primary breast tissues and lymphocytes. EZH2 phosphorylation promotes H3K27me3 maintenance and epigenetic gene silencing. CALD1 phosphorylation promotes Schwann cell migration during peripheral nerve regeneration. CDK1-cyclin-B complex phosphorylates NCKAP5L and mediates its dissociation from centrosomes during mitosis (PubMed:26549230). Regulates the amplitude of the cyclic expression of the core clock gene ARNTL/BMAL1 by phosphorylating its transcriptional repressor NR1D1, and this phosphorylation is necessary for SCF(FBXW7)-mediated ubiquitination and proteasomal degradation of NR1D1 (PubMed:27238018). Polyubiquitinated upon genotoxic stress.;Phosphorylation at Thr-161 by CAK/CDK7 activates kinase activity. Phosphorylation at Thr-14 and Tyr-15 by PKMYT1 prevents nuclear translocation. Phosphorylation at Tyr-15 by WEE1 and WEE2 inhibits the protein kinase activity and acts as a negative regulator of entry into mitosis (G2 to M transition). Phosphorylation by PKMYT1 and WEE1 takes place during mitosis to keep CDK1-cyclin-B complexes inactive until the end of G2. By the end of G2, PKMYT1 and WEE1 are inactivated, but CDC25A and CDC25B are activated. Dephosphorylation by active CDC25A and CDC25B at Thr-14 and Tyr-15, leads to CDK1 activation at the G2-M transition. Phosphorylation at Tyr-15 by WEE2 during oogenesis is required to maintain meiotic arrest in oocytes during the germinal vesicle (GV) stage, a long period of quiescence at dictyate prophase I, leading to prevent meiotic reentry. Phosphorylation by WEE2 is also required for metaphase II exit during egg activation to ensure exit from meiosis in oocytes and promote pronuclear formation. Phosphorylated at Tyr-4 by PKR/EIF2AK2 upon genotoxic stress. This phosphorylation triggers CDK1 polyubiquitination and subsequent proteolysis, thus leading to G2 arrest. In response to UV irradiation, phosphorylation at Tyr-15 by PRKCD activates the G2/M DNA damage checkpoint. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. Cell cycle;Oocyte meiosis;p53 signaling pathway;Gap junction;Progesterone-mediated oocyte maturation;Herpes simplex infection;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;MAPK6/MAPK4 signaling;Nuclear Pore Complex (NPC) Disassembly;Activation of NIMA Kinases NEK9, NEK6, NEK7;Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Resolution of Sister Chromatid Cohesion;Condensation of Prophase Chromosomes;G1/S-Specific Transcription;Cyclin A/B1/B2 associated events during G2/M transition;G2/M DNA replication checkpoint;MASTL Facilitates Mitotic Progression;APC/C:Cdc20 mediated degradation of Cyclin B;Regulation of APC/C activators between G1/S and early anaphase;Phosphorylation of the APC/C;E2F-enabled inhibition of pre-replication complex formation;Phosphorylation of Emi1;Recruitment of NuMA to mitotic centrosomes;MAPK3 (ERK1) activation;Golgi Cisternae Pericentriolar Stack Reorganization;Phosphorylation of proteins involved in the G2/M transition by Cyclin A:Cdc2 complexes;Condensation of Prometaphase Chromosomes;Depolymerisation of the Nuclear Lamina;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;The role of GTSE1 in G2/M progression after G2 checkpoint;AURKA Activation by TPX2;Regulation of TP53 Degradation;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;Ovarian tumor domain proteases;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1;Transcriptional regulation by RUNX2;Mitotic Prophase PE1 10 +NX_P06576 ATP synthase subunit beta, mitochondrial 529 56560 5.26 0 Mitochondrion inner membrane;Mitochondrion NA Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. NA Belongs to the ATPase alpha/beta chains family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Mitochondrial protein import;Formation of ATP by chemiosmotic coupling;Transcriptional activation of mitochondrial biogenesis;Cristae formation PE1 12 +NX_P06681 Complement C2 752 83268 7.23 0 Secreted Macular degeneration, age-related, 14;Complement component 2 deficiency Component C2 which is part of the classical pathway of the complement system is cleaved by activated factor C1 into two fragments: C2b and C2a. C2a, a serine protease, then combines with complement factor C4b to generate the C3 or C5 convertase. NA Belongs to the peptidase S1 family. Complement and coagulation cascades;Pertussis;Staphylococcus aureus infection;Systemic lupus erythematosus;Regulation of Complement cascade;Initial triggering of complement;Activation of C3 and C5 PE1 6 +NX_P06702 Protein S100-A9 114 13242 5.71 0 Cytoplasm;Cell membrane;Cell junction;Secreted;Nucleoplasm;Cytosol;Cytoskeleton NA S100A9 is a calcium- and zinc-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. It can induce neutrophil chemotaxis, adhesion, can increase the bactericidal activity of neutrophils by promoting phagocytosis via activation of SYK, PI3K/AKT, and ERK1/2 and can induce degranulation of neutrophils by a MAPK-dependent mechanism. Predominantly found as calprotectin (S100A8/A9) which has a wide plethora of intra- and extracellular functions. The intracellular functions include: facilitating leukocyte arachidonic acid trafficking and metabolism, modulation of the tubulin-dependent cytoskeleton during migration of phagocytes and activation of the neutrophilic NADPH-oxidase. Activates NADPH-oxidase by facilitating the enzyme complex assembly at the cell membrane, transferring arachidonic acid, an essential cofactor, to the enzyme complex and S100A8 contributes to the enzyme assembly by directly binding to NCF2/P67PHOX. The extracellular functions involve proinflammatory, antimicrobial, oxidant-scavenging and apoptosis-inducing activities. Its proinflammatory activity includes recruitment of leukocytes, promotion of cytokine and chemokine production, and regulation of leukocyte adhesion and migration. Acts as an alarmin or a danger associated molecular pattern (DAMP) molecule and stimulates innate immune cells via binding to pattern recognition receptors such as Toll-like receptor 4 (TLR4) and receptor for advanced glycation endproducts (AGER). Binding to TLR4 and AGER activates the MAP-kinase and NF-kappa-B signaling pathways resulting in the amplification of the proinflammatory cascade. Has antimicrobial activity towards bacteria and fungi and exerts its antimicrobial activity probably via chelation of Zn(2+) which is essential for microbial growth. Can induce cell death via autophagy and apoptosis and this occurs through the cross-talk of mitochondria and lysosomes via reactive oxygen species (ROS) and the process involves BNIP3. Can regulate neutrophil number and apoptosis by an anti-apoptotic effect; regulates cell survival via ITGAM/ITGB and TLR4 and a signaling mechanism involving MEK-ERK. Its role as an oxidant scavenger has a protective role in preventing exaggerated tissue damage by scavenging oxidants. Can act as a potent amplifier of inflammation in autoimmunity as well as in cancer development and tumor spread. Has transnitrosylase activity; in oxidatively-modified low-densitity lipoprotein (LDL(ox))-induced S-nitrosylation of GAPDH on 'Cys-247' proposed to transfer the NO moiety from NOS2/iNOS to GAPDH via its own S-nitrosylated Cys-3. The iNOS-S100A8/A9 transnitrosylase complex is proposed to also direct selective inflammatory stimulus-dependent S-nitrosylation of multiple targets such as ANXA5, EZR, MSN and VIM by recognizing a [IL]-x-C-x-x-[DE] motif. Phosphorylated. Phosphorylation inhibits activation of tubulin polymerization.;S-nitrosylation of Cys-3 is implicated in LDL(ox)-induced S-nitrosylation of GAPDH at 'Cys-247' through a transnitrosylase mechanism involving a iNOS-S100A8/9 complex (PubMed:25417112). Belongs to the S-100 family. RHO GTPases Activate NADPH Oxidases;Regulation of TLR by endogenous ligand;Neutrophil degranulation;Metal sequestration by antimicrobial proteins PE1 1 +NX_P06703 Protein S100-A6 90 10180 5.32 0 Cytoplasm;Cytosol;Nucleus envelope;Cell membrane NA May function as calcium sensor and modulator, contributing to cellular calcium signaling. May function by interacting with other proteins, such as TPR-containing proteins, and indirectly play a role in many physiological processes such as the reorganization of the actin cytoskeleton and in cell motility. Binds 2 calcium ions. Calcium binding is cooperative. The N-terminus is blocked. Belongs to the S-100 family. NA PE1 1 +NX_P06727 Apolipoprotein A-IV 396 45399 5.28 0 Cytoplasmic vesicle;Secreted NA May have a role in chylomicrons and VLDL secretion and catabolism. Required for efficient activation of lipoprotein lipase by ApoC-II; potent activator of LCAT. Apoa-IV is a major component of HDL and chylomicrons. Phosphorylation sites are present in the extracellular medium. Belongs to the apolipoprotein A1/A4/E family. Retinoid metabolism and transport;Amyloid fiber formation;Assembly of active LPL and LIPC lipase complexes;Chylomicron remodeling;Chylomicron assembly PE1 11 +NX_P06729 T-cell surface antigen CD2 351 39448 9.66 1 Cell membrane NA CD2 interacts with lymphocyte function-associated antigen CD58 (LFA-3) and CD48/BCM1 to mediate adhesion between T-cells and other cell types. CD2 is implicated in the triggering of T-cells, the cytoplasmic domain is implicated in the signaling function. NA NA Cell adhesion molecules (CAMs);Hematopoietic cell lineage;Cell surface interactions at the vascular wall PE1 1 +NX_P06730 Eukaryotic translation initiation factor 4E 217 25097 5.79 0 Cytoplasm;Cytosol;P-body Autism 19 Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis and facilitates ribosome binding by inducing the unwinding of the mRNAs secondary structures. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates the binding to the mRNA cap. Phosphorylation increases the ability of the protein to bind to mRNA caps and to form the eIF4F complex. Belongs to the eukaryotic initiation factor 4E family. RNA transport;mTOR signaling pathway;Insulin signaling pathway;ISG15 antiviral mechanism;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Deadenylation of mRNA;mTORC1-mediated signalling;Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S PE1 4 +NX_P06731 Carcinoembryonic antigen-related cell adhesion molecule 5 702 76795 5.59 0 Cell surface;Apical cell membrane;Cell membrane NA (Microbial infection) Receptor for E.coli Dr adhesins. Binding of E.coli Dr adhesins leads to dissociation of the homodimer.;Cell surface glycoprotein that plays a role in cell adhesion, intracellular signaling and tumor progression (PubMed:2803308, PubMed:10910050, PubMed:10864933). Mediates homophilic and heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM6 (PubMed:2803308). Plays a role as an oncogene by promoting tumor progression; induces resistance to anoikis of colorectal carcinoma cells (PubMed:10910050). Complex immunoreactive glycoprotein with a MW of 180 kDa comprising 60% carbohydrate. Belongs to the immunoglobulin superfamily. CEA family. Cell surface interactions at the vascular wall;Post-translational modification: synthesis of GPI-anchored proteins PE1 19 +NX_P06732 Creatine kinase M-type 381 43101 6.77 0 Cytoplasm NA Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. Creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa. NA Belongs to the ATP:guanido phosphotransferase family. Arginine and proline metabolism;Metabolic pathways;Creatine metabolism PE1 19 +NX_P06733 Alpha-enolase 434 47169 7.01 0 Cytoplasm;M line;Nucleus;Cell membrane NA Multifunctional enzyme that, as well as its role in glycolysis, plays a part in various processes such as growth control, hypoxia tolerance and allergic responses. May also function in the intravascular and pericellular fibrinolytic system due to its ability to serve as a receptor and activator of plasminogen on the cell surface of several cell-types such as leukocytes and neurons. Stimulates immunoglobulin production.;MBP1 binds to the myc promoter and acts as a transcriptional repressor. May be a tumor suppressor. ISGylated.;ENO1 is phosphorylated by MAPK3 Belongs to the enolase family. Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 4/5.;Glycolysis / Gluconeogenesis;Metabolic pathways;RNA degradation;Glycolysis;Gluconeogenesis PE1 1 +NX_P06734 Low affinity immunoglobulin epsilon Fc receptor 321 36469 5.38 1 Secreted;Cell membrane NA Low-affinity receptor for immunoglobulin E (IgE) and CR2/CD21. Has essential roles in the regulation of IgE production and in the differentiation of B-cells (it is a B-cell-specific antigen). The secreted form sCD23 is produced by ADAM10-mediated ectodomain shedding.;N- and O-glycosylated. NA Hematopoietic cell lineage;NOTCH2 intracellular domain regulates transcription;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling PE1 19 +NX_P06737 Glycogen phosphorylase, liver form 847 97149 6.71 0 Cytosol;Cell membrane Glycogen storage disease 6 Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties. Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A. Belongs to the glycogen phosphorylase family. Starch and sucrose metabolism;Insulin signaling pathway;Glycogen breakdown (glycogenolysis);Neutrophil degranulation PE1 14 +NX_P06744 Glucose-6-phosphate isomerase 558 63147 8.42 0 Cytoplasm;Cell membrane;Secreted;Nucleoplasm;Cytosol Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency In the cytoplasm, catalyzes the conversion of glucose-6-phosphate to fructose-6-phosphate, the second step in glycolysis, and the reverse reaction during gluconeogenesis (PubMed:28803808). Besides it's role as a glycolytic enzyme, also acts as a secreted cytokine: acts as an angiogenic factor (AMF) that stimulates endothelial cell motility (PubMed:11437381). Acts as a neurotrophic factor, neuroleukin, for spinal and sensory neurons (PubMed:3352745, PubMed:11004567). It is secreted by lectin-stimulated T-cells and induces immunoglobulin secretion (PubMed:3352745, PubMed:11004567). Phosphorylation at Ser-185 by CK2 has been shown to decrease enzymatic activity and may contribute to secretion by a non-classical secretory pathway.;ISGylated. Belongs to the GPI family. Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 2/4.;Glycolysis / Gluconeogenesis;Pentose phosphate pathway;Starch and sucrose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Glycolysis;TP53 Regulates Metabolic Genes;Gluconeogenesis;Neutrophil degranulation PE1 19 +NX_P06746 DNA polymerase beta 335 38178 9.01 0 Cytoplasm;Nucleus;Cytoplasmic vesicle NA Repair polymerase that plays a key role in base-excision repair. Has 5'-deoxyribose-5-phosphate lyase (dRP lyase) activity that removes the 5' sugar phosphate and also acts as a DNA polymerase that adds one nucleotide to the 3' end of the arising single-nucleotide gap. Conducts 'gap-filling' DNA synthesis in a stepwise distributive fashion rather than in a processive fashion as for other DNA polymerases. Ubiquitinated at Lys-41, Lys-61 and Lys-81: monoubiquitinated by HUWE1/ARF-BP1. Monoubiquitinated protein is then the target of STUB1/CHIP, which catalyzes polyubiquitination from monoubiquitin, leading to degradation by the proteasome. USP47 mediates the deubiquitination of monoubiquitinated protein, preventing polyubiquitination by STUB1/CHIP and its subsequent degradation.;Methylation by PRMT6 stimulates the polymerase activity by enhancing DNA binding and processivity. Belongs to the DNA polymerase type-X family. Base excision repair;HTLV-I infection;POLB-Dependent Long Patch Base Excision Repair;Resolution of AP sites via the multiple-nucleotide patch replacement pathway;Resolution of AP sites via the single-nucleotide replacement pathway;APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway;PCNA-Dependent Long Patch Base Excision Repair;Abasic sugar-phosphate removal via the single-nucleotide replacement pathway;Ub-specific processing proteases PE1 8 +NX_P06748 Nucleophosmin 294 32575 4.64 0 Nucleoplasm;Nucleus;Centrosome;Nucleolus NA Involved in diverse cellular processes such as ribosome biogenesis, centrosome duplication, protein chaperoning, histone assembly, cell proliferation, and regulation of tumor suppressors p53/TP53 and ARF. Binds ribosome presumably to drive ribosome nuclear export. Associated with nucleolar ribonucleoprotein structures and bind single-stranded nucleic acids. Acts as a chaperonin for the core histones H3, H2B and H4. Stimulates APEX1 endonuclease activity on apurinic/apyrimidinic (AP) double-stranded DNA but inhibits APEX1 endonuclease activity on AP single-stranded RNA. May exert a control of APEX1 endonuclease activity within nucleoli devoted to repair AP on rDNA and the removal of oxidized rRNA molecules. In concert with BRCA2, regulates centrosome duplication. Regulates centriole duplication: phosphorylation by PLK2 is able to trigger centriole replication. Negatively regulates the activation of EIF2AK2/PKR and suppresses apoptosis through inhibition of EIF2AK2/PKR autophosphorylation. Antagonizes the inhibitory effect of ATF5 on cell proliferation and relieves ATF5-induced G2/M blockade (PubMed:22528486). In complex with MYC enhances the transcription of MYC target genes (PubMed:25956029). ADP-ribosylated.;Acetylated at C-terminal lysine residues, thereby increasing affinity to histones.;Sumoylated by ARF.;Phosphorylated at Ser-4 by PLK1 and PLK2. Phosphorylation at Ser-4 by PLK2 in S phase is required for centriole duplication and is sufficient to trigger centriole replication. Phosphorylation at Ser-4 by PLK1 takes place during mitosis. Phosphorylated by CDK2 at Ser-125 and Thr-199. Phosphorylation at Thr-199 may trigger initiation of centrosome duplication. Phosphorylated by CDK1 at Thr-199, Thr-219, Thr-234 and Thr-237 during cell mitosis. When these four sites are phosphorated, RNA-binding activity seem to be abolished. May be phosphorylated at Ser-70 by NEK2. The Thr-199 phosphorylated form has higher affinity for ROCK2. CDK6 triggers Thr-199 phosphorylation when complexed to Kaposi's sarcoma herpesvirus (KSHV) V-cyclin, leading to viral reactivation by reducing viral LANA levels.;Ubiquitinated. Ubiquitination leads to proteasomal degradation. Deubiquitinated by USP36 (PubMed:19208757).;NPM1 is phosphorylated by AURKA (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the nucleoplasmin family. Nuclear import of Rev protein;Deposition of new CENPA-containing nucleosomes at the centromere;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain;TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation;SUMOylation of transcription cofactors PE1 5 +NX_P06753 Tropomyosin alpha-3 chain 285 32950 4.68 0 Cytoplasm;Cytoskeleton Cap myopathy 1;Nemaline myopathy 1;Myopathy, congenital, with fiber-type disproportion Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. NA Belongs to the tropomyosin family. Cardiac muscle contraction;Pathways in cancer;Thyroid cancer;Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;Striated Muscle Contraction;Smooth Muscle Contraction PE1 1 +NX_P06756 Integrin alpha-V 1048 116038 5.45 1 Cytosol;Focal adhesion;Cell membrane NA (Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for herpes simplex 1/HHV-1.;(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Herpes virus 8/HHV-8.;(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Human parechovirus 1.;(Microbial infection) Integrin ITGAV:ITGB5 and ITGAV:ITGB3 act as receptors for Coxsackievirus A9 and B1.;(Microbial infection) Integrin ITGAV:ITGB5 acts as a receptor for Adenovirus type C.;(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for West nile virus.;(Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions.;The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognize the sequence R-G-D in a wide array of ligands. ITGAV:ITGB3 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to FGF2 and this binding is essential for FGF2 signaling (PubMed:28302677). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (PubMed:29030430). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 and ITGAV:ITGB6 act as a receptor for fibrillin-1 (FBN1) and mediate R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). Integrin alpha-V/beta-6 or alpha-V/beta-8 (ITGAV:ITGB6 or ITGAV:ITGB8) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447). NA Belongs to the integrin alpha chain family. Phagosome;Focal adhesion;ECM-receptor interaction;Cell adhesion molecules (CAMs);Regulation of actin cytoskeleton;Pathways in cancer;Small cell lung cancer;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;VEGFA-VEGFR2 Pathway;Signal transduction by L1;Syndecan interactions;Integrin cell surface interactions;ECM proteoglycans;Molecules associated with elastic fibres;Elastic fibre formation;PECAM1 interactions;Cross-presentation of particulate exogenous antigens (phagosomes);Laminin interactions;Neutrophil degranulation PE1 2 +NX_P06850 Corticoliberin 196 21422 10 0 Secreted NA Hormone regulating the release of corticotropin from pituitary gland (By similarity). Induces NLRP6 in intestinal epithelial cells, hence may influence gut microbiota profile (By similarity). NA Belongs to the sauvagine/corticotropin-releasing factor/urotensin I family. Long-term depression;G alpha (s) signalling events;Class B/2 (Secretin family receptors);MECP2 regulates transcription of neuronal ligands PE1 8 +NX_P06858 Lipoprotein lipase 475 53162 8.37 0 Cytoplasmic vesicle;Extracellular matrix;Secreted;Cell membrane Hyperlipidemia, familial combined, 3;Hyperlipoproteinemia 1 Key enzyme in triglyceride metabolism. Catalyzes the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby plays an important role in lipid clearance from the blood stream, lipid utilization and storage (PubMed:8675619, PubMed:11342582, PubMed:27578112). Mediates margination of triglyceride-rich lipoprotein particles in capillaries (PubMed:24726386). Recruited to its site of action on the luminal surface of vascular endothelium by binding to GPIHBP1 and cell surface heparan sulfate proteoglycans (PubMed:11342582, PubMed:27811232). Tyrosine nitration after lipopolysaccharide (LPS) challenge down-regulates the lipase activity. Belongs to the AB hydrolase superfamily. Lipase family. Glycerolipid metabolism;PPAR signaling pathway;Alzheimer's disease;Retinoid metabolism and transport;Transcriptional regulation of white adipocyte differentiation;Assembly of active LPL and LIPC lipase complexes;Chylomicron remodeling PE1 8 +NX_P06865 Beta-hexosaminidase subunit alpha 529 60703 5.04 0 Lysosome GM2-gangliosidosis 1 Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity. N-linked glycan at Asn-115 consists of Man(3)-GlcNAc(2). Belongs to the glycosyl hydrolase 20 family. Other glycan degradation;Amino sugar and nucleotide sugar metabolism;Glycosaminoglycan degradation;Glycosphingolipid biosynthesis - globo series;Glycosphingolipid biosynthesis - ganglio series;Metabolic pathways;Lysosome;Glycosphingolipid metabolism;Keratan sulfate degradation;Hyaluronan uptake and degradation;CS/DS degradation;Defective HEXA causes GM2G1 PE1 15 +NX_P06870 Kallikrein-1 262 28890 4.68 0 NA NA Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin. The O-linked polysaccharides on Ser-93, Ser-104 and Ser-167 are probably the mucin type linked to GalNAc. In PubMed:3163150, GalNAc was detected with the corresponding peptides but not located. Belongs to the peptidase S1 family. Kallikrein subfamily. Endocrine and other factor-regulated calcium reabsorption;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) PE1 19 +NX_P06881 Calcitonin gene-related peptide 1 128 13899 9.18 0 Secreted NA CGRP induces vasodilation. It dilates a variety of vessels including the coronary, cerebral and systemic vasculature. Its abundance in the CNS also points toward a neurotransmitter or neuromodulator role. It also elevates platelet cAMP. NA Belongs to the calcitonin family. G alpha (s) signalling events;Calcitonin-like ligand receptors PE1 11 +NX_P06899 Histone H2B type 1-J 126 13904 10.31 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.;Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid. GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes (By similarity).;Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons. Belongs to the histone H2B family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;G2/M DNA damage checkpoint;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Ub-specific processing proteases;E3 ubiquitin ligases ubiquitinate target proteins;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 6 +NX_P07093 Glia-derived nexin 398 44002 9.35 0 Extracellular space NA Serine protease inhibitor with activity toward thrombin, trypsin, and urokinase. Promotes neurite extension by inhibiting thrombin. Binds heparin. NA Belongs to the serpin family. Common Pathway of Fibrin Clot Formation;Intrinsic Pathway of Fibrin Clot Formation;Dissolution of Fibrin Clot PE1 2 +NX_P07098 Gastric triacylglycerol lipase 398 45238 6.83 0 Secreted NA NA NA Belongs to the AB hydrolase superfamily. Lipase family. Glycerolipid metabolism;Metabolic pathways;Fat digestion and absorption;Digestion of dietary lipid PE1 10 +NX_P07099 Epoxide hydrolase 1 455 52949 6.77 1 Microsome membrane;Endoplasmic reticulum membrane Familial hypercholanemia Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water (By similarity). May play a role in the metabolism of endogenous lipids such as epoxide-containing fatty acids (PubMed:22798687). NA Belongs to the peptidase S33 family. Metabolism of xenobiotics by cytochrome P450;Bile secretion;Phase I - Functionalization of compounds PE1 1 +NX_P07101 Tyrosine 3-monooxygenase 528 58600 5.9 0 Cytosol Segawa syndrome autosomal recessive Plays an important role in the physiology of adrenergic neurons. NA Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. Catecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 1/2.;Tyrosine metabolism;Metabolic pathways;Dopaminergic synapse;Parkinson's disease;Catecholamine biosynthesis PE1 11 +NX_P07108 Acyl-CoA-binding protein 87 10044 6.12 0 Endoplasmic reticulum;Golgi apparatus NA Binds medium- and long-chain acyl-CoA esters with very high affinity and may function as an intracellular carrier of acyl-CoA esters. It is also able to displace diazepam from the benzodiazepine (BZD) recognition site located on the GABA type A receptor. It is therefore possible that this protein also acts as a neuropeptide to modulate the action of the GABA receptor. NA Belongs to the ACBP family. PPAR signaling pathway;Mitochondrial Fatty Acid Beta-Oxidation PE1 2 +NX_P07148 Fatty acid-binding protein, liver 127 14208 6.6 0 Cytoplasm;Nucleoplasm;Cytosol NA Plays a role in lipoprotein-mediated cholesterol uptake in hepatocytes (PubMed:25732850). Binds cholesterol (PubMed:25732850). Binds free fatty acids and their coenzyme A derivatives, bilirubin, and some other small molecules in the cytoplasm. May be involved in intracellular lipid transport (By similarity). NA Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. PPAR signaling pathway;Fat digestion and absorption;PPARA activates gene expression;Triglyceride catabolism;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) PE1 2 +NX_P07195 L-lactate dehydrogenase B chain 334 36638 5.71 0 Cytoplasm;Cytosol Lactate dehydrogenase B deficiency NA NA Belongs to the LDH/MDH superfamily. LDH family. Fermentation; pyruvate fermentation to lactate; (S)-lactate from pyruvate: step 1/1.;Glycolysis / Gluconeogenesis;Cysteine and methionine metabolism;Pyruvate metabolism;Propanoate metabolism;Metabolic pathways;Pyruvate metabolism PE1 12 +NX_P07196 Neurofilament light polypeptide 543 61517 4.64 0 Nucleus speckle;Cytoskeleton Charcot-Marie-Tooth disease, dominant intermediate G;Charcot-Marie-Tooth disease 2E;Charcot-Marie-Tooth disease 1F Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.;O-glycosylated.;Ubiquitinated in the presence of TRIM2 and UBE2D1.;NEFL is phosphorylated by PKN1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the intermediate filament family. Amyotrophic lateral sclerosis (ALS);RAF/MAP kinase cascade;Unblocking of NMDA receptors, glutamate binding and activation;Ras activation upon Ca2+ influx through NMDA receptor;Assembly and cell surface presentation of NMDA receptors;Negative regulation of NMDA receptor-mediated neuronal transmission;Long-term potentiation PE1 8 +NX_P07197 Neurofilament medium polypeptide 916 102472 4.9 0 Cytoskeleton NA Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. There are a number of repeats of the tripeptide K-S-P, NFM is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFM results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber.;Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincidentally with a change in the neurofilament function.;Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.;NEFM is phosphorylated by PKN1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the intermediate filament family. Amyotrophic lateral sclerosis (ALS) PE1 8 +NX_P07199 Major centromere autoantigen B 599 65171 4.49 0 Nucleoplasm;Centromere;Nucleus NA Interacts with centromeric heterochromatin in chromosomes and binds to a specific 17 bp subset of alphoid satellite DNA, called the CENP-B box (PubMed:11726497). May organize arrays of centromere satellite DNA into a higher-order structure which then directs centromere formation and kinetochore assembly in mammalian chromosomes (Probable). N-terminally methylated by METTL11A/NTM1. Alpha-N-methylation is stimulated in response to extracellular stimuli, including increased cell density and heat shock, and seems to facilitate binding to CENP-B boxes. Chromatin-bound CENP-B is primarily trimethylated.;Poly-ADP-ribosylated by PARP1. NA NA PE1 20 +NX_P07202 Thyroid peroxidase 933 102963 6.32 1 Cell surface;Membrane Thyroid dyshormonogenesis 2A Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4). Cleaved in its N-terminal part.;Heme is covalently bound through a H(2)O(2)-dependent autocatalytic process. Heme insertion is important for the delivery of protein at the cell surface.;Glycosylated. Belongs to the peroxidase family. XPO subfamily. Hormone biosynthesis; thyroid hormone biosynthesis.;Tyrosine metabolism;Metabolic pathways;Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Hematopoietic cell lineage;Autoimmune thyroid disease;Thyroxine biosynthesis PE1 2 +NX_P07203 Glutathione peroxidase 1 203 22088 6.15 0 Cytoplasm NA Protects the hemoglobin in erythrocytes from oxidative breakdown. During periods of oxidative stress, Sec-49 may react with a superoxide radical, irreversibly lose hydroselenide and be converted to dehydroalanine. Belongs to the glutathione peroxidase family. Glutathione metabolism;Arachidonic acid metabolism;Amyotrophic lateral sclerosis (ALS);Huntington's disease;Purine catabolism;Detoxification of Reactive Oxygen Species;Synthesis of 15-eicosatetraenoic acid derivatives;Synthesis of 12-eicosatetraenoic acid derivatives;Synthesis of 5-eicosatetraenoic acids PE1 3 +NX_P07204 Thrombomodulin 575 60329 4.78 1 Membrane;Nucleoplasm;Cytosol Thrombophilia due to thrombomodulin defect;Hemolytic uremic syndrome atypical 6 Thrombomodulin is a specific endothelial cell receptor that forms a 1:1 stoichiometric complex with thrombin. This complex is responsible for the conversion of protein C to the activated protein C (protein Ca). Once evolved, protein Ca scissions the activated cofactors of the coagulation mechanism, factor Va and factor VIIIa, and thereby reduces the amount of thrombin generated. N-glycosylated.;The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. NA Complement and coagulation cascades;Common Pathway of Fibrin Clot Formation;Cell surface interactions at the vascular wall PE1 20 +NX_P07205 Phosphoglycerate kinase 2 417 44796 8.74 0 Cytoplasm NA Essential for sperm motility and male fertility (PubMed:26677959). Not required for the completion of spermatogenesis (By similarity). NA Belongs to the phosphoglycerate kinase family. Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 2/5.;Glycolysis / Gluconeogenesis;Metabolic pathways;Glycolysis;Gluconeogenesis PE1 6 +NX_P07225 Vitamin K-dependent protein S 676 75123 5.48 0 Secreted Thrombophilia due to protein S deficiency, autosomal recessive;Thrombophilia due to protein S deficiency, autosomal dominant Anticoagulant plasma protein; it is a cofactor to activated protein C in the degradation of coagulation factors Va and VIIIa. It helps to prevent coagulation and stimulating fibrinolysis. The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. NA Complement and coagulation cascades;Common Pathway of Fibrin Clot Formation;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Platelet degranulation;Gamma-carboxylation of protein precursors;Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus;Removal of aminoterminal propeptides from gamma-carboxylated proteins PE1 3 +NX_P07237 Protein disulfide-isomerase 508 57116 4.76 0 Endoplasmic reticulum;Endoplasmic reticulum lumen;Melanosome;Cell membrane Cole-Carpenter syndrome 1 This multifunctional protein catalyzes the formation, breakage and rearrangement of disulfide bonds. At the cell surface, seems to act as a reductase that cleaves disulfide bonds of proteins attached to the cell. May therefore cause structural modifications of exofacial proteins. Inside the cell, seems to form/rearrange disulfide bonds of nascent proteins. At high concentrations, functions as a chaperone that inhibits aggregation of misfolded proteins. At low concentrations, facilitates aggregation (anti-chaperone activity). May be involved with other chaperones in the structural modification of the TG precursor in hormone biogenesis. Also acts a structural subunit of various enzymes such as prolyl 4-hydroxylase and microsomal triacylglycerol transfer protein MTTP. Receptor for LGALS9; the interaction retains P4HB at the cell surface of Th2 T helper cells, increasing disulfide reductase activity at the plasma membrane, altering the plasma membrane redox state and enhancing cell migration (PubMed:21670307). NA Belongs to the protein disulfide isomerase family. Protein processing in endoplasmic reticulum;Hedgehog ligand biogenesis;Detoxification of Reactive Oxygen Species;Collagen biosynthesis and modifying enzymes;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);VLDL assembly;Post-translational protein phosphorylation;Chylomicron assembly;Interleukin-12 signaling;Interleukin-23 signaling PE1 17 +NX_P07288 Prostate-specific antigen 261 28741 7.61 0 Secreted NA Hydrolyzes semenogelin-1 thus leading to the liquefaction of the seminal coagulum. NA Belongs to the peptidase S1 family. Kallikrein subfamily. Pathways in cancer;Prostate cancer;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) PE1 19 +NX_P07305 Histone H1.0 194 20863 10.84 0 Golgi apparatus;Chromosome;Nucleoplasm;Nucleus;Cytoskeleton NA Histones H1 are necessary for the condensation of nucleosome chains into higher-order structures. The H1F0 histones are found in cells that are in terminal stages of differentiation or that have low rates of cell division. Phosphorylated on Ser-17 in RNA edited version.;ADP-ribosylated on Ser-104 in response to DNA damage. Belongs to the histone H1/H5 family. Formation of Senescence-Associated Heterochromatin Foci (SAHF);Apoptosis induced DNA fragmentation PE1 22 +NX_P07306 Asialoglycoprotein receptor 1 291 33186 5.28 1 Membrane;Cytoplasmic vesicle;Cell junction;Secreted NA Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N-acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface. Phosphorylated on a cytoplasmic Ser residue. NA Asparagine N-linked glycosylation PE1 17 +NX_P07307 Asialoglycoprotein receptor 2 311 35092 5.81 1 Membrane;Endoplasmic reticulum;Cell membrane NA Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N-acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface. NA NA Asparagine N-linked glycosylation PE1 17 +NX_P07311 Acylphosphatase-1 99 11261 9.3 0 Nucleoplasm;Cytosol NA Its physiological role is not yet clear. NA Belongs to the acylphosphatase family. Pyruvate metabolism PE1 14 +NX_P07315 Gamma-crystallin C 174 20879 6.88 0 NA Cataract 2, multiple types Crystallins are the dominant structural components of the vertebrate eye lens. NA Belongs to the beta/gamma-crystallin family. NA PE1 2 +NX_P07316 Gamma-crystallin B 175 20908 6.88 0 NA Cataract 39, multiple types Crystallins are the dominant structural components of the vertebrate eye lens. NA Belongs to the beta/gamma-crystallin family. NA PE1 2 +NX_P07320 Gamma-crystallin D 174 20738 7 0 Cytoskeleton;Cell membrane Cataract 4, multiple types Crystallins are the dominant structural components of the vertebrate eye lens. NA Belongs to the beta/gamma-crystallin family. NA PE1 2 +NX_P07327 Alcohol dehydrogenase 1A 375 39859 8.26 0 Cytoplasm NA NA NA Belongs to the zinc-containing alcohol dehydrogenase family. Glycolysis / Gluconeogenesis;Fatty acid metabolism;Tyrosine metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;RA biosynthesis pathway;Abacavir metabolism;Ethanol oxidation PE1 4 +NX_P07332 Tyrosine-protein kinase Fes/Fps 822 93497 6.27 0 Golgi apparatus;Cell membrane;Focal adhesion;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Cytoskeleton NA Tyrosine-protein kinase that acts downstream of cell surface receptors and plays a role in the regulation of the actin cytoskeleton, microtubule assembly, cell attachment and cell spreading. Plays a role in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Acts down-stream of the activated FCER1 receptor and the mast/stem cell growth factor receptor KIT. Plays a role in the regulation of mast cell degranulation. Plays a role in the regulation of cell differentiation and promotes neurite outgrowth in response to NGF signaling. Plays a role in cell scattering and cell migration in response to HGF-induced activation of EZR. Phosphorylates BCR and down-regulates BCR kinase activity. Phosphorylates HCLS1/HS1, PECAM1, STAT3 and TRIM28. Autophosphorylated on Tyr-713. Phosphorylated by LYN in response to FCER1 activation. Phosphorylated by HCK.;FES is phosphorylated by HCK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. Fes/fps subfamily. Axon guidance;SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion;Signaling by SCF-KIT;Sema3A PAK dependent Axon repulsion;CRMPs in Sema3A signaling PE1 15 +NX_P07333 Macrophage colony-stimulating factor 1 receptor 972 107984 5.93 1 Cytoplasmic vesicle;Cell membrane Leukoencephalopathy, diffuse hereditary, with spheroids Tyrosine-protein kinase that acts as cell-surface receptor for CSF1 and IL34 and plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of proinflammatory chemokines in response to IL34 and CSF1, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone and tooth development. Required for normal male and female fertility, and for normal development of milk ducts and acinar structures in the mammary gland during pregnancy. Promotes reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell migration, and promotes cancer cell invasion. Activates several signaling pathways in response to ligand binding. Phosphorylates PIK3R1, PLCG2, GRB2, SLA2 and CBL. Activation of PLCG2 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, that then lead to the activation of protein kinase C family members, especially PRKCD. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to activation of the AKT1 signaling pathway. Activated CSF1R also mediates activation of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1, and of the SRC family kinases SRC, FYN and YES1. Activated CSF1R transmits signals both via proteins that directly interact with phosphorylated tyrosine residues in its intracellular domain, or via adapter proteins, such as GRB2. Promotes activation of STAT family members STAT3, STAT5A and/or STAT5B. Promotes tyrosine phosphorylation of SHC1 and INPP5D/SHIP-1. Receptor signaling is down-regulated by protein phosphatases, such as INPP5D/SHIP-1, that dephosphorylate the receptor and its downstream effectors, and by rapid internalization of the activated receptor. Ubiquitinated. Becomes rapidly polyubiquitinated after autophosphorylation, leading to its degradation.;Autophosphorylated in response to CSF1 or IL34 binding. Phosphorylation at Tyr-561 is important for normal down-regulation of signaling by ubiquitination, internalization and degradation. Phosphorylation at Tyr-561 and Tyr-809 is important for interaction with SRC family members, including FYN, YES1 and SRC, and for subsequent activation of these protein kinases. Phosphorylation at Tyr-699 and Tyr-923 is important for interaction with GRB2. Phosphorylation at Tyr-723 is important for interaction with PIK3R1. Phosphorylation at Tyr-708 is important for normal receptor degradation. Phosphorylation at Tyr-723 and Tyr-809 is important for interaction with PLCG2. Phosphorylation at Tyr-969 is important for interaction with CBL. Dephosphorylation by PTPN2 negatively regulates downstream signaling and macrophage differentiation. Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. Cytokine-cytokine receptor interaction;Endocytosis;Osteoclast differentiation;Hematopoietic cell lineage;Pathways in cancer;Other interleukin signaling PE1 5 +NX_P07339 Cathepsin D 412 44552 6.1 0 Extracellular space;Melanosome;Lysosome Ceroid lipofuscinosis, neuronal, 10 Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation (PubMed:27333034). Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease. N- and O-glycosylated.;Undergoes proteolytic cleavage and activation by ADAM30.;As well as the major heavy chain which starts at Leu-169, 2 minor forms starting at Gly-170 and Gly-171 have been identified (PubMed:1426530). An additional form starting at Ala-168 has also been identified (PubMed:27333034). Belongs to the peptidase A1 family. Lysosome;Tuberculosis;MHC class II antigen presentation;Collagen degradation;Metabolism of Angiotensinogen to Angiotensins;Neutrophil degranulation;Estrogen-dependent gene expression PE1 11 +NX_P07355 Annexin A2 339 38604 7.57 0 Basement membrane;Cytosol;Melanosome;Cell membrane NA Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids. It binds two calcium ions with high affinity. May be involved in heat-stress response. Inhibits PCSK9-enhanced LDLR degradation, probably reduces PCSK9 protein levels via a translational mechanism but also competes with LDLR for binding with PCSK9 (PubMed:18799458, PubMed:24808179, PubMed:22848640). Phosphorylation of Tyr-24 enhances heat stress-induced translocation to the cell surface.;ISGylated. Belongs to the annexin family. Smooth Muscle Contraction;Dissolution of Fibrin Clot;Neutrophil degranulation;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 15 +NX_P07357 Complement component C8 alpha chain 584 65163 6.07 0 Secreted;Cell membrane Complement component 8 deficiency, 1 Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C8A inserts into the target membrane, but does not form pores by itself. NA Belongs to the complement C6/C7/C8/C9 family. Complement and coagulation cascades;Prion diseases;Amoebiasis;Systemic lupus erythematosus;Terminal pathway of complement;Regulation of Complement cascade PE1 1 +NX_P07358 Complement component C8 beta chain 591 67047 8.5 0 Secreted Complement component 8 deficiency, 2 Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. N-glycosylated; contains one or two bound glycans. Not O-glycosylated. Belongs to the complement C6/C7/C8/C9 family. Complement and coagulation cascades;Prion diseases;Amoebiasis;Systemic lupus erythematosus;Terminal pathway of complement;Regulation of Complement cascade PE1 1 +NX_P07359 Platelet glycoprotein Ib alpha chain 652 71540 5.87 1 Membrane Pseudo-von Willebrand disease;Non-arteritic anterior ischemic optic neuropathy;Bernard-Soulier syndrome;Bernard-Soulier syndrome A2, autosomal dominant GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium. Glycocalicin is the product of a proteolytic cleavage/shedding, catalyzed by ADAM17, which releases most of the extracellular domain. Binding sites for vWF and thrombin are in this part of the protein. NA Platelet Adhesion to exposed collagen;Intrinsic Pathway of Fibrin Clot Formation;GP1b-IX-V activation signalling;Platelet Aggregation (Plug Formation);RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 17 +NX_P07360 Complement component C8 gamma chain 202 22277 8.49 0 Secreted NA C8 is a constituent of the membrane attack complex. C8 binds to the C5B-7 complex, forming the C5B-8 complex. C5-B8 binds C9 and acts as a catalyst in the polymerization of C9. The gamma subunit seems to be able to bind retinol. NA Belongs to the calycin superfamily. Lipocalin family. Complement and coagulation cascades;Prion diseases;Amoebiasis;Systemic lupus erythematosus;Terminal pathway of complement;Regulation of Complement cascade PE1 9 +NX_P07384 Calpain-1 catalytic subunit 714 81890 5.49 0 Cytoplasm;Cytosol;Cell membrane Spastic paraplegia 76, autosomal recessive Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Undergoes calcium-induced successive autoproteolytic cleavages that generate a membrane-bound 78 kDa active form and an intracellular 75 kDa active form. Calpastatin reduces with high efficiency the transition from 78 kDa to 75 kDa calpain forms. Belongs to the peptidase C2 family. Protein processing in endoplasmic reticulum;Apoptosis;Alzheimer's disease;Degradation of the extracellular matrix;Neutrophil degranulation;Formation of the cornified envelope;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models PE1 11 +NX_P07437 Tubulin beta chain 444 49671 4.78 0 Cytoplasm;Cytoskeleton Cortical dysplasia, complex, with other brain malformations 6;Skin creases, congenital symmetric circumferential, 1 Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.;Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).;Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).;TUBB is phosphorylated by ABL2 (Phosphotyrosine:PTM-0255);TUBB is phosphorylated by GRK5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the tubulin family. Phagosome;Gap junction;Pathogenic Escherichia coli infection;Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2;Neutrophil degranulation PE1 6 +NX_P07438 Metallothionein-1B 61 6115 8.47 0 NA NA Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. NA Belongs to the metallothionein superfamily. Type 1 family. Mineral absorption;Metallothioneins bind metals PE1 16 +NX_P07451 Carbonic anhydrase 3 260 29557 6.86 0 Cytoplasm NA Reversible hydration of carbon dioxide. S-glutathionylated in hepatocytes under oxidative stress. Belongs to the alpha-carbonic anhydrase family. Nitrogen metabolism;Reversible hydration of carbon dioxide PE1 8 +NX_P07476 Involucrin 585 68479 4.62 0 Cytoplasm;Cytosol;Centrosome;Nucleus NA Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia. Substrate of transglutaminase. Some glutamines and lysines are cross-linked to other involucrin molecules, to other proteins such as keratin, desmoplakin, periplakin and envoplakin, and to lipids like omega-hydroxyceramide. Belongs to the involucrin family. Formation of the cornified envelope PE1 1 +NX_P07477 Trypsin-1 247 26558 6.08 0 Extracellular space Pancreatitis, hereditary Has activity against the synthetic substrates Boc-Phe-Ser-Arg-Mec, Boc-Leu-Thr-Arg-Mec, Boc-Gln-Ala-Arg-Mec and Boc-Val-Pro-Arg-Mec. The single-chain form is more active than the two-chain form against all of these substrates. Occurs in a single-chain form and a two-chain form, produced by proteolytic cleavage after Arg-122.;Sulfation at Tyr-154 increases selectivity towards basic versus apolar residues at the P2' position of inhibitors that bind in a substrate-like fashion. Although the increase in selectivity is relatively small, it may facilitate digestion of a broader range of dietary proteins. Belongs to the peptidase S1 family. Neuroactive ligand-receptor interaction;Pancreatic secretion;Protein digestion and absorption;Influenza A;Cobalamin (Cbl, vitamin B12) transport and metabolism;Activation of Matrix Metalloproteinases PE1 7 +NX_P07478 Trypsin-2 247 26488 4.78 0 Extracellular space NA In the ileum, may be involved in defensin processing, including DEFA5. Sulfated on tyrosine.;Sulfation at Tyr-154 increases selectivity towards basic versus apolar residues at the P2' position of inhibitors that bind in a substrate-like fashion. Although the increase in selectivity is relatively small, it may facilitate digestion of a broader range of dietary proteins. Belongs to the peptidase S1 family. Neuroactive ligand-receptor interaction;Pancreatic secretion;Protein digestion and absorption;Influenza A;Alpha-defensins;Collagen degradation;Activation of Matrix Metalloproteinases;Neutrophil degranulation;Antimicrobial peptides PE1 7 +NX_P07492 Gastrin-releasing peptide 148 16213 10.22 0 Secretory vesicle lumen;Secreted NA Stimulates the release of gastrin and other gastrointestinal hormones (By similarity). Contributes to the perception of prurient stimuli and to the transmission of itch signals in the spinal cord that promote scratching behavior. Contributes primarily to nonhistaminergic itch sensation. Contributes to long-term fear memory, but not normal spatial memory. Contributes to the regulation of food intake (By similarity). NA Belongs to the bombesin/neuromedin-B/ranatensin family. Peptide ligand-binding receptors;G alpha (q) signalling events;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) PE1 18 +NX_P07498 Kappa-casein 182 20305 8.97 0 Secreted NA Kappa-casein stabilizes micelle formation, preventing casein precipitation in milk. The N-terminus is blocked. Belongs to the kappa-casein family. Miscellaneous transport and binding events PE1 4 +NX_P07510 Acetylcholine receptor subunit gamma 517 57883 5.86 4 Postsynaptic cell membrane;Cell membrane Multiple pterygium syndrome, lethal type;Multiple pterygium syndrome, Escobar variant After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Gamma/CHRNG sub-subfamily. Neuroactive ligand-receptor interaction;Highly sodium permeable acetylcholine nicotinic receptors PE1 2 +NX_P07550 Beta-2 adrenergic receptor 413 46459 6.59 7 Cytosol;Early endosome;Cell membrane NA Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. The beta-2-adrenergic receptor binds epinephrine with an approximately 30-fold greater affinity than it does norepinephrine. Hydroxylation by EGLN3 occurs only under normoxia and increases the interaction with VHL and the subsequent ubiquitination and degradation of ADRB2.;Phosphorylation of Tyr-141 is induced by insulin and leads to supersensitization of the receptor.;Phosphorylated by PKA and BARK upon agonist stimulation, which mediates homologous desensitization of the receptor. PKA-mediated phosphorylation seems to facilitate phosphorylation by BARK.;Polyubiquitinated. Agonist-induced ubiquitination leads to sort internalized receptors to the lysosomes for degradation (PubMed:19424180, PubMed:20559325). Deubiquitination by USP20 and USP33, leads to ADRB2 recycling and resensitization after prolonged agonist stimulation. USP20 and USP33 are constitutively associated and are dissociated immediately after agonist stimulation. Ubiquitination by the VHL-E3 ligase complex is oxygen-dependent.;Palmitoylated; may reduce accessibility of Ser-345 and Ser-346 by anchoring Cys-341 to the plasma membrane. Agonist stimulation promotes depalmitoylation and further allows Ser-345 and Ser-346 phosphorylation.;ADRB2 is phosphorylated by GRK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRB2 sub-subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Endocytosis;Salivary secretion;G alpha (s) signalling events;Adrenoceptors;Ub-specific processing proteases;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 5 +NX_P07585 Decorin 359 39747 8.75 0 Extracellular matrix Corneal dystrophy, congenital stromal May affect the rate of fibrils formation. The attached glycosaminoglycan chain can be either chondroitin sulfate or dermatan sulfate depending upon the tissue of origin. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class I subfamily. TGF-beta signaling pathway;Degradation of the extracellular matrix;Chondroitin sulfate biosynthesis;A tetrasaccharide linker sequence is required for GAG synthesis;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;ECM proteoglycans;Dermatan sulfate biosynthesis;CS/DS degradation;Defective CHST3 causes SEDCJD;Defective CHST14 causes EDS, musculocontractural type;Defective CHSY1 causes TPBS;Defective B3GALT6 causes EDSP2 and SEMDJL1 PE1 12 +NX_P07602 Prosaposin 524 58113 5.06 0 Cytoplasmic vesicle;Secreted;Lysosome Gaucher disease, atypical, due to saposin C deficiency;Krabbe disease, atypical, due to saposin A deficiency;Metachromatic leukodystrophy due to saposin-B deficiency;Combined saposin deficiency Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12).;Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC 3.2.1.45) and galactosylceramide by beta-galactosylceramidase (EC 3.2.1.46). Saposin-C apparently acts by combining with the enzyme and acidic lipid to form an activated complex, rather than by solubilizing the substrate.;Saposins are specific low-molecular mass non-enzymic proteins, they participate in the lysosomal degradation of sphingolipids, which takes place by the sequential action of specific hydrolases.;Prosaposin: Behaves as a myelinotrophic and neurotrophic factor, these effects are mediated by its G-protein-coupled receptors, GPR37 and GPR37L1, undergoing ligand-mediated internalization followed by ERK phosphorylation signaling.;Saposin-B stimulates the hydrolysis of galacto-cerebroside sulfate by arylsulfatase A (EC 3.1.6.8), GM1 gangliosides by beta-galactosidase (EC 3.2.1.23) and globotriaosylceramide by alpha-galactosidase A (EC 3.2.1.22). Saposin-B forms a solubilizing complex with the substrates of the sphingolipid hydrolases. The one residue extended Saposin-B-Val is only found in 5% of the chains.;N-linked glycans show a high degree of microheterogeneity.;The lysosomal precursor is proteolytically processed to 4 small peptides, which are similar to each other and are sphingolipid hydrolase activator proteins. NA Lysosome;G alpha (i) signalling events;Peptide ligand-binding receptors;Glycosphingolipid metabolism;Platelet degranulation;Neutrophil degranulation PE1 10 +NX_P07686 Beta-hexosaminidase subunit beta 556 63111 6.29 0 Lysosome GM2-gangliosidosis 2 Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. N-linked glycans at Asn-142 and Asn-190 consist of Man(3)-GlcNAc(2) and Man(5 to 7)-GlcNAc(2), respectively.;The beta-A and beta-B chains are produced by proteolytic processing of the precursor beta chain. Belongs to the glycosyl hydrolase 20 family. Other glycan degradation;Amino sugar and nucleotide sugar metabolism;Glycosaminoglycan degradation;Glycosphingolipid biosynthesis - globo series;Glycosphingolipid biosynthesis - ganglio series;Metabolic pathways;Lysosome;Glycosphingolipid metabolism;Keratan sulfate degradation;Hyaluronan uptake and degradation;CS/DS degradation;Neutrophil degranulation;Defective HEXB causes GM2G2 PE1 5 +NX_P07711 Cathepsin L1 333 37564 5.32 0 Golgi apparatus;Lysosome;Cytoplasmic vesicle NA Important for the overall degradation of proteins in lysosomes. NA Belongs to the peptidase C1 family. Lysosome;Phagosome;Antigen processing and presentation;Rheumatoid arthritis;Degradation of the extracellular matrix;MHC class II antigen presentation;Endosomal/Vacuolar pathway;Collagen degradation;Trafficking and processing of endosomal TLR;Assembly of collagen fibrils and other multimeric structures;RUNX1 regulates transcription of genes involved in differentiation of keratinocytes PE1 9 +NX_P07737 Profilin-1 140 15054 8.44 0 Cytoplasm;Cytosol;Cytoskeleton Amyotrophic lateral sclerosis 18 Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR. Phosphorylation at Ser-138 reduces its affinity for G-actin and blocks its interaction with HTT, reducing its ability to inhibit androgen receptor (AR) and HTT aggregation. Belongs to the profilin family. Regulation of actin cytoskeleton;Shigellosis;Salmonella infection;RHO GTPases Activate Formins;PCP/CE pathway;Platelet degranulation;Signaling by ROBO receptors PE1 17 +NX_P07738 Bisphosphoglycerate mutase 259 30005 6.1 0 Nucleoplasm;Nucleolus Erythrocytosis, familial, 8 Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.11) activity. Glycation of Lys-159 in diabetic patients inactivates the enzyme. Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily. Glycolysis / Gluconeogenesis;Metabolic pathways;Glycolysis PE1 7 +NX_P07741 Adenine phosphoribosyltransferase 180 19608 5.78 0 Nucleoplasm;Cytoplasm;Cytosol Adenine phosphoribosyltransferase deficiency Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis. NA Belongs to the purine/pyrimidine phosphoribosyltransferase family. Purine metabolism; AMP biosynthesis via salvage pathway; AMP from adenine: step 1/1.;Purine metabolism;Metabolic pathways;Purine salvage;Neutrophil degranulation PE1 16 +NX_P07766 T-cell surface glycoprotein CD3 epsilon chain 207 23147 6.32 1 Cell membrane Immunodeficiency 18 Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098). In addition of this role of signal transduction in T-cell activation, CD3E plays an essential role in correct T-cell development. Initiates the TCR-CD3 complex assembly by forming the two heterodimers CD3D/CD3E and CD3G/CD3E. Participates also in internalization and cell surface down-regulation of TCR-CD3 complexes via endocytosis sequences present in CD3E cytosolic region (PubMed:10384095, PubMed:26507128). Phosphorylated on Tyr residues after T-cell receptor triggering by LCK in association with CD4/CD8. NA Hematopoietic cell lineage;T cell receptor signaling pathway;Chagas disease (American trypanosomiasis);Measles;HTLV-I infection;Primary immunodeficiency;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 11 +NX_P07814 Bifunctional glutamate/proline--tRNA ligase 1512 170591 7.02 0 Membrane;Cytoplasm;Cytosol Leukodystrophy, hypomyelinating, 15 Multifunctional protein which is primarily part of the aminoacyl-tRNA synthetase multienzyme complex, also know as multisynthetase complex, that catalyzes the attachment of the cognate amino acid to the corresponding tRNA in a two-step reaction: the amino acid is first activated by ATP to form a covalent intermediate with AMP and is then transferred to the acceptor end of the cognate tRNA (PubMed:1756734, PubMed:24100331, PubMed:23263184). The phosphorylation of EPRS, induced by interferon-gamma, dissociates the protein from the aminoacyl-tRNA synthetase multienzyme complex and recruits it to the GAIT complex that binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin), suppressing their translation. Interferon-gamma can therefore redirect, in specific cells, the EPRS function from protein synthesis to translation inhibition (PubMed:15479637, PubMed:23071094). Also functions as an effector of the mTORC1 signaling pathway by promoting, through SLC27A1, the uptake of long-chain fatty acid by adipocytes. Thereby, it also plays a role in fat metabolism and more indirectly influences lifespan (PubMed:28178239). Phosphorylated at Ser-886 by CDK5 (PubMed:19647514, PubMed:21220307). Phosphorylated at Ser-999 by RPS6KB1; triggers EPRS release from the aminoacyl-tRNA synthetase multienzyme complex (PubMed:19647514, PubMed:21220307, PubMed:28178239). In monocytes, the IFN-gamma-induced sequential phosphorylation at Ser-886 and Ser-999 releases EPRS from the aminoacyl-tRNA synthetase multienzyme complex, allowing its association with the GAIT complex. Phosphorylation at Ser-999 is specifically required for the RPL13A-mediated interaction of the GAIT complex with eIF4G (PubMed:19647514, PubMed:21220307). Phosphorylation at Ser-999 by RPS6KB1, is also induced by insulin through activation of the mTORC1 signaling pathway and promotes the interaction of EPRS with SLC27A1 (PubMed:28178239). In the N-terminal section; belongs to the class-I aminoacyl-tRNA synthetase family. Glutamate--tRNA ligase type 2 subfamily.;In the C-terminal section; belongs to the class-II aminoacyl-tRNA synthetase family. Porphyrin and chlorophyll metabolism;Aminoacyl-tRNA biosynthesis;Metabolic pathways;Cytosolic tRNA aminoacylation;tRNA modification in the nucleus and cytosol;Selenoamino acid metabolism PE1 1 +NX_P07858 Cathepsin B 339 37822 5.88 0 Nucleolus;Melanosome;Extracellular space;Cytoplasmic vesicle;Lysosome Keratolytic winter erythema Thiol protease which is believed to participate in intracellular degradation and turnover of proteins (PubMed:12220505). Cleaves matrix extracellular phosphoglycoprotein MEPE (PubMed:12220505). Has also been implicated in tumor invasion and metastasis (PubMed:3972105). NA Belongs to the peptidase C1 family. Lysosome;Antigen processing and presentation;MHC class II antigen presentation;Collagen degradation;Trafficking and processing of endosomal TLR;Assembly of collagen fibrils and other multimeric structures;Neutrophil degranulation PE1 8 +NX_P07864 L-lactate dehydrogenase C chain 332 36311 7.08 0 Cytoplasm NA Possible role in sperm motility. NA Belongs to the LDH/MDH superfamily. LDH family. Fermentation; pyruvate fermentation to lactate; (S)-lactate from pyruvate: step 1/1.;Glycolysis / Gluconeogenesis;Cysteine and methionine metabolism;Pyruvate metabolism;Propanoate metabolism;Metabolic pathways;Pyruvate metabolism PE1 11 +NX_P07900 Heat shock protein HSP 90-alpha 732 84660 4.94 0 Cytoplasm;Cell membrane;Melanosome;Cytosol;Nucleus NA Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle that is linked to its ATPase activity which is essential for its chaperone activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co-chaperones that modulate its substrate recognition, ATPase cycle and chaperone function (PubMed:11274138, PubMed:15577939, PubMed:15937123, PubMed:27353360, PubMed:29127155). Engages with a range of client protein classes via its interaction with various co-chaperone proteins or complexes, that act as adapters, simultaneously able to interact with the specific client and the central chaperone itself (PubMed:29127155). Recruitment of ATP and co-chaperone followed by client protein forms a functional chaperone. After the completion of the chaperoning process, properly folded client protein and co-chaperone leave HSP90 in an ADP-bound partially open conformation and finally, ADP is released from HSP90 which acquires an open conformation for the next cycle (PubMed:27295069, PubMed:26991466). Apart from its chaperone activity, it also plays a role in the regulation of the transcription machinery. HSP90 and its co-chaperones modulate transcription at least at three different levels (PubMed:25973397). In the first place, they alter the steady-state levels of certain transcription factors in response to various physiological cues(PubMed:25973397). Second, they modulate the activity of certain epigenetic modifiers, such as histone deacetylases or DNA methyl transferases, and thereby respond to the change in the environment (PubMed:25973397). Third, they participate in the eviction of histones from the promoter region of certain genes and thereby turn on gene expression (PubMed:25973397). Binds bacterial lipopolysaccharide (LPS) and mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:11276205). Antagonizes STUB1-mediated inhibition of TGF-beta signaling via inhibition of STUB1-mediated SMAD3 ubiquitination and degradation (PubMed:24613385). Ubiquitinated via 'Lys-63'-linked polyubiquitination by HECTD1. Ubiquitination promotes translocation into the cytoplasm away from the membrane and secretory pathways.;S-nitrosylated; negatively regulates the ATPase activity and the activation of eNOS by HSP90AA1.;ISGylated.;HSP90AA1 is phosphorylated by PRKDC Belongs to the heat shock protein 90 family. Protein processing in endoplasmic reticulum;Antigen processing and presentation;NOD-like receptor signaling pathway;Progesterone-mediated oocyte maturation;Pathways in cancer;Prostate cancer;Anchoring of the basal body to the plasma membrane;Regulation of actin dynamics for phagocytic cup formation;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;PIWI-interacting RNA (piRNA) biogenesis;VEGFA-VEGFR2 Pathway;VEGFR2 mediated vascular permeability;Signaling by ERBB2;Uptake and function of diphtheria toxin;Attenuation phase;HSF1-dependent transactivation;Sema3A PAK dependent Axon repulsion;HSF1 activation;Recruitment of NuMA to mitotic centrosomes;eNOS activation;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Scavenging by Class F Receptors;Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation;Constitutive Signaling by EGFRvIII;vRNP Assembly;The role of GTSE1 in G2/M progression after G2 checkpoint;AURKA Activation by TPX2;Neutrophil degranulation;Downregulation of ERBB2 signaling;Interleukin-4 and Interleukin-13 signaling;HSP90 chaperone cycle for steroid hormone receptors (SHR);Estrogen-dependent gene expression;ESR-mediated signaling;Extra-nuclear estrogen signaling;Chaperone Mediated Autophagy PE1 14 +NX_P07902 Galactose-1-phosphate uridylyltransferase 379 43363 6.49 0 Cytosol Galactosemia Plays an important role in galactose metabolism. NA Belongs to the galactose-1-phosphate uridylyltransferase type 1 family. Carbohydrate metabolism; galactose metabolism.;Galactose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Galactose catabolism;Defective GALT can cause Galactosemia PE1 9 +NX_P07910 Heterogeneous nuclear ribonucleoproteins C1/C2 306 33670 4.95 0 Nucleoplasm;Nucleus NA Binds pre-mRNA and nucleates the assembly of 40S hnRNP particles (PubMed:8264621). Interacts with poly-U tracts in the 3'-UTR or 5'-UTR of mRNA and modulates the stability and the level of translation of bound mRNA molecules (PubMed:12509468, PubMed:16010978, PubMed:7567451, PubMed:8264621). Single HNRNPC tetramers bind 230-240 nucleotides. Trimers of HNRNPC tetramers bind 700 nucleotides (PubMed:8264621). May play a role in the early steps of spliceosome assembly and pre-mRNA splicing. N6-methyladenosine (m6A) has been shown to alter the local structure in mRNAs and long non-coding RNAs (lncRNAs) via a mechanism named 'm(6)A-switch', facilitating binding of HNRNPC, leading to regulation of mRNA splicing (PubMed:25719671). Sumoylated. Sumoylation reduces affinity for mRNA.;Phosphorylated on Ser-260 and Ser-299 in resting cells. Phosphorylated on Ser-253 and on 1 serine residue in the poly-Ser stretch at position 238 in response to hydrogen peroxide. Belongs to the RRM HNRPC family. RALY subfamily. Spliceosome;mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA;SUMOylation of RNA binding proteins PE1 14 +NX_P07911 Uromodulin 640 69761 5.05 0 Cilium membrane;Basolateral cell membrane;Apical cell membrane;Secreted Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Medullary cystic kidney disease 2;Familial juvenile hyperuricemic nephropathy 1 Uromodulin, secreted form: In the urine, may contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, prevents urinary tract infection and inhibits formation of liquid containing supersaturated salts and subsequent formation of salt crystals.;Uromodulin: Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like structure that may play a role in the water barrier permeability (Probable). May serve as a receptor for binding and endocytosis of cytokines (IL-1, IL-2) and TNF (PubMed:3498215). Facilitates neutrophil migration across renal epithelia (PubMed:20798515). N-glycosylated (PubMed:19005207, PubMed:26673890, PubMed:26811476). N-glycan heterogeneity at Asn-232: Hex7HexNAc6 (major) and dHex1Hex7HexNAc6 (minor); at Asn-322: dHex1Hex6HexNAc5 (minor), dHex1Hex7HexNAc6 (major) and dHex1Hex8HexNAc7 (minor); at Asn-396: Hex6HexNAc5 (major), dHex1Hex6HexNAc5 (minor) and Hex7HexNAc6 (minor) (PubMed:22171320).;Proteolytically cleaved at a conserved C-terminal proteolytic cleavage site to generate the secreted form found in urine (PubMed:18375198, PubMed:19005207). This cleavage is catalyzed by HPN (PubMed:26673890). NA Asparagine N-linked glycosylation PE1 16 +NX_P07919 Cytochrome b-c1 complex subunit 6, mitochondrial 91 10739 4.39 0 Mitochondrion inner membrane NA This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1. NA Belongs to the UQCRH/QCR6 family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport PE1 1 +NX_P07942 Laminin subunit beta-1 1786 198038 4.83 0 Basement membrane Lissencephaly 5 Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Involved in the organization of the laminar architecture of cerebral cortex. It is probably required for the integrity of the basement membrane/glia limitans that serves as an anchor point for the endfeet of radial glial cells and as a physical barrier to migrating neurons. Radial glial cells play a central role in cerebral cortical development, where they act both as the proliferative unit of the cerebral cortex and a scaffold for neurons migrating toward the pial surface. NA NA Focal adhesion;ECM-receptor interaction;Toxoplasmosis;Amoebiasis;Pathways in cancer;Small cell lung cancer;Degradation of the extracellular matrix;ECM proteoglycans;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Non-integrin membrane-ECM interactions;L1CAM interactions;Laminin interactions;MET activates PTK2 signaling;Post-translational protein phosphorylation PE1 7 +NX_P07947 Tyrosine-protein kinase Yes 543 60801 6.32 0 Cytosol;Centrosome;Cell membrane NA Non-receptor protein tyrosine kinase that is involved in the regulation of cell growth and survival, apoptosis, cell-cell adhesion, cytoskeleton remodeling, and differentiation. Stimulation by receptor tyrosine kinases (RTKs) including EGRF, PDGFR, CSF1R and FGFR leads to recruitment of YES1 to the phosphorylated receptor, and activation and phosphorylation of downstream substrates. Upon EGFR activation, promotes the phosphorylation of PARD3 to favor epithelial tight junction assembly. Participates in the phosphorylation of specific junctional components such as CTNND1 by stimulating the FYN and FER tyrosine kinases at cell-cell contacts. Upon T-cell stimulation by CXCL12, phosphorylates collapsin response mediator protein 2/DPYSL2 and induces T-cell migration. Participates in CD95L/FASLG signaling pathway and mediates AKT-mediated cell migration. Plays a role in cell cycle progression by phosphorylating the cyclin-dependent kinase 4/CDK4 thus regulating the G1 phase. Also involved in G2/M progression and cytokinesis. Palmitoylation at Cys-3 promotes membrane localization.;Phosphorylation by CSK on the C-terminal tail maintains the enzyme in an inactive state. Autophosphorylation at Tyr-426 maintains enzyme activity by blocking CSK-mediated inhibition.;YES1 is phosphorylated by FLT1 (Phosphotyrosine:PTM-0255);YES1 is phosphorylated by CSK (Phosphotyrosine:PTM-0255);Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily. Adherens junction;Tight junction;EPH-Ephrin signaling;EPHB-mediated forward signaling;EPH-ephrin mediated repulsion of cells;EPHA-mediated growth cone collapse;Signaling by ERBB2;Signaling by SCF-KIT;Regulation of KIT signaling;CD28 co-stimulation;FCGR activation;PECAM1 interactions;CTLA4 inhibitory signaling;Regulation of signaling by CBL;RUNX2 regulates osteoblast differentiation PE1 18 +NX_P07948 Tyrosine-protein kinase Lyn 512 58574 6.7 0 Golgi apparatus;Cytoplasm;Cell membrane;Membrane;Cytoplasmic vesicle;Perinuclear region;Nucleus NA Non-receptor tyrosine-protein kinase that transmits signals from cell surface receptors and plays an important role in the regulation of innate and adaptive immune responses, hematopoiesis, responses to growth factors and cytokines, integrin signaling, but also responses to DNA damage and genotoxic agents. Functions primarily as negative regulator, but can also function as activator, depending on the context. Required for the initiation of the B-cell response, but also for its down-regulation and termination. Plays an important role in the regulation of B-cell differentiation, proliferation, survival and apoptosis, and is important for immune self-tolerance. Acts downstream of several immune receptors, including the B-cell receptor, CD79A, CD79B, CD5, CD19, CD22, FCER1, FCGR2, FCGR1A, TLR2 and TLR4. Plays a role in the inflammatory response to bacterial lipopolysaccharide. Mediates the responses to cytokines and growth factors in hematopoietic progenitors, platelets, erythrocytes, and in mature myeloid cells, such as dendritic cells, neutrophils and eosinophils. Acts downstream of EPOR, KIT, MPL, the chemokine receptor CXCR4, as well as the receptors for IL3, IL5 and CSF2. Plays an important role in integrin signaling. Regulates cell proliferation, survival, differentiation, migration, adhesion, degranulation, and cytokine release. Down-regulates signaling pathways by phosphorylation of immunoreceptor tyrosine-based inhibitory motifs (ITIM), that then serve as binding sites for phosphatases, such as PTPN6/SHP-1, PTPN11/SHP-2 and INPP5D/SHIP-1, that modulate signaling by dephosphorylation of kinases and their substrates. Phosphorylates LIME1 in response to CD22 activation. Phosphorylates BTK, CBL, CD5, CD19, CD72, CD79A, CD79B, CSF2RB, DOK1, HCLS1, LILRB3/PIR-B, MS4A2/FCER1B, SYK and TEC. Promotes phosphorylation of SIRPA, PTPN6/SHP-1, PTPN11/SHP-2 and INPP5D/SHIP-1. Mediates phosphorylation of the BCR-ABL fusion protein. Required for rapid phosphorylation of FER in response to FCER1 activation. Mediates KIT phosphorylation. Acts as an effector of EPOR (erythropoietin receptor) in controlling KIT expression and may play a role in erythroid differentiation during the switch between proliferation and maturation. Depending on the context, activates or inhibits several signaling cascades. Regulates phosphatidylinositol 3-kinase activity and AKT1 activation. Regulates activation of the MAP kinase signaling cascade, including activation of MAP2K1/MEK1, MAPK1/ERK2, MAPK3/ERK1, MAPK8/JNK1 and MAPK9/JNK2. Mediates activation of STAT5A and/or STAT5B. Phosphorylates LPXN on 'Tyr-72'. Kinase activity facilitates TLR4-TLR6 heterodimerization and signal initiation. Phosphorylates SCIMP on 'Tyr-107'; this enhances binding of SCIMP to TLR4, promoting the phosphorylation of TLR4, and a selective cytokine response to lipopolysaccharide in macrophages (By similarity). Autophosphorylated. Phosphorylated on tyrosine residues in response to KIT signaling. Phosphorylation at Tyr-397 is required for optimal activity. Phosphorylation at Tyr-508 inhibits kinase activity. Phosphorylated at Tyr-508 by CSK. Dephosphorylated by PTPRC/CD45. Becomes rapidly phosphorylated upon activation of the B-cell receptor and the immunoglobulin receptor FCGR1A.;Ubiquitinated by CBL, leading to its degradation. Ubiquitination is SH3-dependent. Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily. Chemokine signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Long-term depression;Epithelial cell signaling in Helicobacter pylori infection;FCERI mediated NF-kB activation;Role of LAT2/NTAL/LAB on calcium mobilization;GPVI-mediated activation cascade;EPH-Ephrin signaling;EPHB-mediated forward signaling;EPH-ephrin mediated repulsion of cells;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;EPHA-mediated growth cone collapse;Cell surface interactions at the vascular wall;Growth hormone receptor signaling;Signaling by SCF-KIT;Regulation of KIT signaling;CD28 co-stimulation;Dectin-2 family;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;CD209 (DC-SIGN) signaling;Cyclin D associated events in G1;FCGR activation;Fc epsilon receptor (FCERI) signaling;PECAM1 interactions;CTLA4 inhibitory signaling;Platelet Adhesion to exposed collagen;Regulation of signaling by CBL;CD22 mediated BCR regulation;Erythropoietin activates RAS;Erythropoietin activates Phosphoinositide-3-kinase (PI3K);Signaling by Erythropoietin;Erythropoietin activates Phospholipase C gamma (PLCG);Erythropoietin activates STAT5 PE1 8 +NX_P07949 Proto-oncogene tyrosine-protein kinase receptor Ret 1114 124319 6.17 1 Golgi apparatus;Cytosol;Endosome membrane;Cell membrane Hirschsprung disease 1;Pheochromocytoma;Congenital central hypoventilation syndrome;Multiple neoplasia 2A;Multiple neoplasia 2B;Medullary thyroid carcinoma;Colorectal cancer In complex with GFRAL induces higher activation of MAPK-signaling pathway than isoform 2 in complex with GFRAL (PubMed:28846099).;Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation upon binding with glial cell derived neurotrophic factor family ligands. Phosphorylates PTK2/FAK1. Regulates both cell death/survival balance and positional information. Required for the molecular mechanisms orchestration during intestine organogenesis; involved in the development of enteric nervous system and renal organogenesis during embryonic life, and promotes the formation of Peyer's patch-like structures, a major component of the gut-associated lymphoid tissue. Modulates cell adhesion via its cleavage by caspase in sympathetic neurons and mediates cell migration in an integrin (e.g. ITGB1 and ITGB3)-dependent manner. Involved in the development of the neural crest. Active in the absence of ligand, triggering apoptosis through a mechanism that requires receptor intracellular caspase cleavage. Acts as a dependence receptor; in the presence of the ligand GDNF in somatotrophs (within pituitary), promotes survival and down regulates growth hormone (GH) production, but triggers apoptosis in absence of GDNF. Regulates nociceptor survival and size. Triggers the differentiation of rapidly adapting (RA) mechanoreceptors. Mediator of several diseases such as neuroendocrine cancers; these diseases are characterized by aberrant integrins-regulated cell migration. Mediates, through interaction with GDF15-receptor GFRAL, GDF15-induced cell-signaling in the brainstem which induces inhibition of food-intake. Activates MAPK- and AKT-signaling pathways (PubMed:28846097, PubMed:28953886, PubMed:28846099). Proteolytically cleaved by caspase-3. The soluble RET kinase fragment is able to induce cell death. The extracellular cell-membrane anchored RET cadherin fragment accelerates cell adhesion in sympathetic neurons.;Autophosphorylated on C-terminal tyrosine residues upon ligand stimulation. Dephosphorylated by PTPRJ on Tyr-905, Tyr-1015 and Tyr-1062. Belongs to the protein kinase superfamily. Tyr protein kinase family. Endocytosis;Pathways in cancer;Thyroid cancer;RAF/MAP kinase cascade;RET signaling PE1 10 +NX_P07951 Tropomyosin beta chain 284 32851 4.66 0 Cytoplasm;Cytoskeleton Arthrogryposis, distal, 2B4;Cap myopathy 2;Arthrogryposis, distal, 1A;Nemaline myopathy 4 Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. The non-muscle isoform may have a role in agonist-mediated receptor internalization. Phosphorylated on Ser-61 by PIK3CG. Phosphorylation on Ser-61 is required for ADRB2 internalization (By similarity). Belongs to the tropomyosin family. Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;Striated Muscle Contraction;Smooth Muscle Contraction PE1 9 +NX_P07954 Fumarate hydratase, mitochondrial 510 54637 8.85 0 Cytosol;Mitochondrion;Nucleus;Chromosome Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer Catalyzes the hydration of fumarate to L-malate in the tricarboxylic acid (TCA) cycle to facilitate a transition step in the production of energy in the form of NADH.;Catalyzes the reversible stereospecific interconversion of fumarate to L-malate (PubMed:30761759). Experiments in other species have demonstrated that specific isoforms of this protein act in defined pathways and favor one direction over the other (Probable).;Catalyzes the dehydration of L-malate to fumarate (By similarity). Fumarate metabolism in the cytosol plays a role during urea cycle and arginine metabolism; fumarate being a by-product of the urea cycle and amino-acid catabolism (By similarity). Also plays a role in DNA repair by promoting non-homologous end-joining (NHEJ) (PubMed:20231875, PubMed:26237645). In response to DNA damage and phosphorylation by PRKDC, translocates to the nucleus and accumulates at DNA double-strand breaks (DSBs): acts by catalyzing formation of fumarate, an inhibitor of KDM2B histone demethylase activity, resulting in enhanced dimethylation of histone H3 'Lys-36' (H3K36me2) (PubMed:26237645). Phosphorylation at Thr-236 by PRKDC in response to DNA damage promotes translocation to the nucleus and recruitment to DNA double-strand breaks (DSBs). Belongs to the class-II fumarase/aspartase family. Fumarase subfamily. Carbohydrate metabolism; tricarboxylic acid cycle; (S)-malate from fumarate: step 1/1.;Citrate cycle (TCA cycle);Metabolic pathways;Pathways in cancer;Renal cell carcinoma;Citric acid cycle (TCA cycle) PE1 1 +NX_P07988 Pulmonary surfactant-associated protein B 381 42117 5.27 0 Surface film Pulmonary surfactant metabolism dysfunction 1;Respiratory distress syndrome in premature infants Pulmonary surfactant-associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per meter. NA NA Surfactant metabolism;Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5);Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4);Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS) PE1 2 +NX_P07992 DNA excision repair protein ERCC-1 297 32562 5.9 0 Nucleoplasm;Cytoplasm;Nucleus Cerebro-oculo-facio-skeletal syndrome 4 Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4. NA Belongs to the ERCC1/RAD10/SWI10 family. Nucleotide excision repair;Fanconi anemia pathway;Dual incision in TC-NER;HDR through Single Strand Annealing (SSA);Dual Incision in GG-NER;Formation of Incision Complex in GG-NER;Fanconi Anemia Pathway PE1 19 +NX_P07996 Thrombospondin-1 1170 129383 4.71 0 Extracellular matrix;Cell membrane;Secreted;Cell surface;Endoplasmic reticulum;Sarcoplasmic reticulum NA Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Binds heparin. May play a role in dentinogenesis and/or maintenance of dentin and dental pulp (By similarity). Ligand for CD36 mediating antiangiogenic properties. Plays a role in ER stress response, via its interaction with the activating transcription factor 6 alpha (ATF6) which produces adaptive ER stress response factors (By similarity). NA Belongs to the thrombospondin family. p53 signaling pathway;Phagosome;TGF-beta signaling pathway;Focal adhesion;ECM-receptor interaction;Malaria;Bladder cancer;O-glycosylation of TSR domain-containing proteins;Signaling by PDGF;Syndecan interactions;Integrin cell surface interactions;Platelet degranulation;Defective B3GALTL causes Peters-plus syndrome (PpS);RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 15 +NX_P07998 Ribonuclease pancreatic 156 17644 9.1 0 Nucleoplasm;Secreted;Cytoplasmic vesicle NA Endonuclease that catalyzes the cleavage of RNA on the 3' side of pyrimidine nucleotides. Acts on single-stranded and double-stranded RNA. N-linked glycans are of complex type. Belongs to the pancreatic ribonuclease family. Chaperone Mediated Autophagy;Microautophagy PE1 14 +NX_P08034 Gap junction beta-1 protein 283 32025 9.19 4 Gap junction;Cell membrane Charcot-Marie-Tooth disease, X-linked dominant, 1;Dejerine-Sottas syndrome One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. NA Belongs to the connexin family. Beta-type (group I) subfamily. Gap junction assembly;Oligomerization of connexins into connexons;Transport of connexins along the secretory pathway PE1 X +NX_P08047 Transcription factor Sp1 785 80693 6.94 0 Nucleoplasm;Cytoplasm;Nucleus NA Is a stronger activator of transcription than isoform 1. Positively regulates the transcription of the core clock component ARNTL/BMAL1 (PubMed:10391891, PubMed:11371615, PubMed:11904305, PubMed:14593115, PubMed:16377629, PubMed:16478997, PubMed:16943418, PubMed:17049555, PubMed:18171990, PubMed:18199680, PubMed:18239466, PubMed:18513490, PubMed:18619531, PubMed:19193796, PubMed:20091743, PubMed:21798247). Plays a role in the recruitment of SMARCA4/BRG1 on the c-FOS promoter. Plays a role in protecting cells against oxidative stress following brain injury by regulating the expression of RNF112 (By similarity).;Transcription factor that can activate or repress transcription in response to physiological and pathological stimuli. Binds with high affinity to GC-rich motifs and regulates the expression of a large number of genes involved in a variety of processes such as cell growth, apoptosis, differentiation and immune responses. Highly regulated by post-translational modifications (phosphorylations, sumoylation, proteolytic cleavage, glycosylation and acetylation). Binds also the PDGFR-alpha G-box promoter. May have a role in modulating the cellular response to DNA damage. Implicated in chromatin remodeling. Plays an essential role in the regulation of FE65 gene expression. In complex with ATF7IP, maintains telomerase activity in cancer cells by inducing TERT and TERC gene expression. Proteolytic cleavage in the N-terminal repressor domain is prevented by sumoylation. The C-terminal cleaved product is susceptible to degradation.;Sumoylated with SUMO1. Sumoylation modulates proteolytic cleavage of the N-terminal repressor domain. Sumoylation levels are attenuated during tumorigenesis. Phosphorylation mediates SP1 desumoylation.;Acetylated. Acetylation/deacetylation events affect transcriptional activity. Deacetylation leads to an increase in the expression the 12(s)-lipooxygenase gene though recruitment of p300 to the promoter.;Ubiquitinated. Ubiquitination occurs on the C-terminal proteolytically-cleaved peptide and is triggered by phosphorylation.;O-glycosylated; Contains 8 N-acetylglucosamine side chains. Levels are controlled by insulin and the SP1 phosphorylation states. Insulin-mediated O-glycosylation locates SP1 to the nucleus, where it is sequentially deglycosylated and phosphorylated. O-glycosylation affects transcriptional activity through disrupting the interaction with a number of transcription factors including ELF1 and NFYA. Also inhibits interaction with the HIV1 promoter. Inhibited by peroxisomome proliferator receptor gamma (PPARgamma).;Phosphorylated on multiple serine and threonine residues. Phosphorylation is coupled to ubiquitination, sumoylation and proteolytic processing. Phosphorylation on Ser-59 enhances proteolytic cleavage. Phosphorylation on Ser-7 enhances ubiquitination and protein degradation. Hyperphosphorylation on Ser-101 in response to DNA damage has no effect on transcriptional activity. MAPK1/MAPK3-mediated phosphorylation on Thr-453 and Thr-739 enhances VEGF transcription but, represses FGF2-triggered PDGFR-alpha transcription. Also implicated in the repression of RECK by ERBB2. Hyperphosphorylated on Thr-278 and Thr-739 during mitosis by MAPK8 shielding SP1 from degradation by the ubiquitin-dependent pathway. Phosphorylated in the zinc-finger domain by calmodulin-activated PKCzeta. Phosphorylation on Ser-641 by PKCzeta is critical for TSA-activated LHR gene expression through release of its repressor, p107. Phosphorylation on Thr-668, Ser-670 and Thr-681 is stimulated by angiotensin II via the AT1 receptor inducing increased binding to the PDGF-D promoter. This phosphorylation is increased in injured artey wall. Ser-59 and Thr-681 can both be dephosphorylated by PP2A during cell-cycle interphase. Dephosphorylation on Ser-59 leads to increased chromatin association during interphase and increases the transcriptional activity. On insulin stimulation, sequentially glycosylated and phosphorylated on several C-terminal serine and threonine residues. Belongs to the Sp1 C2H2-type zinc-finger protein family. PPARA activates gene expression;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Activation of gene expression by SREBF (SREBP);Oncogene Induced Senescence;RNA polymerase II transcribes snRNA genes;Estrogen-dependent gene expression PE1 12 +NX_P08048 Zinc finger Y-chromosomal protein 801 90505 5.65 0 Nucleus NA Probable transcriptional activator. Binds to the consensus sequence 5'-AGGCCY-3'. NA Belongs to the krueppel C2H2-type zinc-finger protein family. ZFX/ZFY subfamily. NA PE1 Y +NX_P08069 Insulin-like growth factor 1 receptor 1367 154793 5.58 1 Cytoplasmic vesicle;Cell membrane Insulin-like growth factor 1 resistance When present in a hybrid receptor with INSR, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1, IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both bind IGF1 and have a low affinity for insulin.;Receptor tyrosine kinase which mediates actions of insulin-like growth factor 1 (IGF1). Binds IGF1 with high affinity and IGF2 and insulin (INS) with a lower affinity. The activated IGF1R is involved in cell growth and survival control. IGF1R is crucial for tumor transformation and survival of malignant cell. Ligand binding activates the receptor kinase, leading to receptor autophosphorylation, and tyrosines phosphorylation of multiple substrates, that function as signaling adapter proteins including, the insulin-receptor substrates (IRS1/2), Shc and 14-3-3 proteins. Phosphorylation of IRSs proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway and the Ras-MAPK pathway. The result of activating the MAPK pathway is increased cellular proliferation, whereas activating the PI3K pathway inhibits apoptosis and stimulates protein synthesis. Phosphorylated IRS1 can activate the 85 kDa regulatory subunit of PI3K (PIK3R1), leading to activation of several downstream substrates, including protein AKT/PKB. AKT phosphorylation, in turn, enhances protein synthesis through mTOR activation and triggers the antiapoptotic effects of IGFIR through phosphorylation and inactivation of BAD. In parallel to PI3K-driven signaling, recruitment of Grb2/SOS by phosphorylated IRS1 or Shc leads to recruitment of Ras and activation of the ras-MAPK pathway. In addition to these two main signaling pathways IGF1R signals also through the Janus kinase/signal transducer and activator of transcription pathway (JAK/STAT). Phosphorylation of JAK proteins can lead to phosphorylation/activation of signal transducers and activators of transcription (STAT) proteins. In particular activation of STAT3, may be essential for the transforming activity of IGF1R. The JAK/STAT pathway activates gene transcription and may be responsible for the transforming activity. JNK kinases can also be activated by the IGF1R. IGF1 exerts inhibiting activities on JNK activation via phosphorylation and inhibition of MAP3K5/ASK1, which is able to directly associate with the IGF1R. Sumoylated with SUMO1.;Controlled by regulated intramembrane proteolysis (RIP). Undergoes metalloprotease-dependent constitutive ectodomain shedding to produce a membrane-anchored 52 kDa C-Terminal fragment which is further processed by presenilin gamma-secretase to yield an intracellular 50 kDa fragment.;Polyubiquitinated at Lys-1168 and Lys-1171 through both 'Lys-48' and 'Lys-29' linkages, promoting receptor endocytosis and subsequent degradation by the proteasome. Ubiquitination is facilitated by pre-existing phosphorylation.;Autophosphorylated on tyrosine residues in response to ligand binding. Autophosphorylation occurs in trans, i.e. One subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Autophosphorylation occurs in a sequential manner; Tyr-1165 is predominantly phosphorylated first, followed by phosphorylation of Tyr-1161 and Tyr-1166. While every single phosphorylation increases kinase activity, all three tyrosine residues in the kinase activation loop (Tyr-1165, Tyr-1161 and Tyr-1166) have to be phosphorylated for optimal activity. Can be autophosphorylated at additional tyrosine residues (in vitro). Autophosphorylated is followed by phosphorylation of juxtamembrane tyrosines and C-terminal serines. Phosphorylation of Tyr-980 is required for IRS1- and SHC1-binding. Phosphorylation of Ser-1278 by GSK-3beta restrains kinase activity and promotes cell surface expression, it requires a priming phosphorylation at Ser-1282. Dephosphorylated by PTPN1 (By similarity).;IGF1R is phosphorylated by PTK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. Oocyte meiosis;Endocytosis;Focal adhesion;Adherens junction;Long-term depression;Progesterone-mediated oocyte maturation;Pathways in cancer;Glioma;Prostate cancer;Melanoma;IRS-related events triggered by IGF1R;SHC-related events triggered by IGF1R;Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R);Extra-nuclear estrogen signaling PE1 15 +NX_P08100 Rhodopsin 348 38893 6.21 7 Membrane;Photoreceptor outer segment;Cell membrane Night blindness, congenital stationary, autosomal dominant 1;Retinitis pigmentosa 4 Photoreceptor required for image-forming vision at low light intensity (PubMed:8107847, PubMed:7846071). Required for photoreceptor cell viability after birth (PubMed:2215617, PubMed:12566452). Light-induced isomerization of the chromophore 11-cis-retinal to all-trans-retinal triggers a conformational change that activates signaling via G-proteins (PubMed:8107847, PubMed:28524165, PubMed:26200343, PubMed:28753425). Subsequent receptor phosphorylation mediates displacement of the bound G-protein alpha subunit by the arrestin SAG and terminates signaling (PubMed:28524165, PubMed:26200343). Contains one covalently linked retinal chromophore. Upon light absorption, the covalently bound 11-cis-retinal is converted to all-trans-retinal. After hydrolysis of the Schiff base and release of the covalently bound all-trans-retinal, active rhodopsin is regenerated by binding of a fresh molecule of 11-cis-retinal(PubMed:12566452).;Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region (By similarity). After activation by light, phosphorylated by GRK1 (in vitro) (PubMed:28524165).;RHO is phosphorylated by GRK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);RHO is phosphorylated by GRK5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);RHO is phosphorylated by GRK7 Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. Phototransduction;G alpha (i) signalling events;VxPx cargo-targeting to cilium;The canonical retinoid cycle in rods (twilight vision);Activation of the phototransduction cascade;Inactivation, recovery and regulation of the phototransduction cascade;Opsins PE1 3 +NX_P08118 Beta-microseminoprotein 114 12865 5.36 0 Secreted Prostate cancer, hereditary, 13 NA NA Belongs to the beta-microseminoprotein family. NA PE1 10 +NX_P08123 Collagen alpha-2(I) chain 1366 129314 9.08 0 Endoplasmic reticulum;Extracellular matrix Ehlers-Danlos syndrome, cardiac valvular type;Osteogenesis imperfecta 3;Osteogenesis imperfecta 4;Osteogenesis imperfecta 1;Osteogenesis imperfecta 2;Ehlers-Danlos syndrome, arthrochalasia type, 2 Type I collagen is a member of group I collagen (fibrillar forming collagen). Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Belongs to the fibrillar collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Amoebiasis;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;GPVI-mediated activation cascade;Collagen degradation;Collagen biosynthesis and modifying enzymes;Syndecan interactions;Integrin cell surface interactions;Cell surface interactions at the vascular wall;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Scavenging by Class A Receptors;Non-integrin membrane-ECM interactions;Platelet Adhesion to exposed collagen;Crosslinking of collagen fibrils;Anchoring fibril formation;GP1b-IX-V activation signalling;Platelet Aggregation (Plug Formation);Extracellular matrix organization;MET activates PTK2 signaling;Interleukin-4 and Interleukin-13 signaling;Collagen chain trimerization PE1 7 +NX_P08133 Annexin A6 673 75873 5.42 0 Cytoplasm;Cytosol;Melanosome NA May associate with CD21. May regulate the release of Ca(2+) from intracellular stores. Phosphorylated in response to growth factor stimulation. Belongs to the annexin family. Smooth Muscle Contraction PE1 5 +NX_P08134 Rho-related GTP-binding protein RhoC 193 22006 6.2 0 Cleavage furrow;Cell membrane NA Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. Serves as a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Regulates apical junction formation in bronchial epithelial cells. (Microbial infection) Glycosylated at Tyr-34 by Photorhabdus asymbiotica toxin PAU_02230. Mono-O-GlcNAcylation by PAU_02230 inhibits downstream signaling by an impaired interaction with diverse regulator and effector proteins of Rho and leads to actin disassembly. Belongs to the small GTPase superfamily. Rho family. RHO GTPases Activate Rhotekin and Rhophilins;RHO GTPases Activate Formins;Rho GTPase cycle;G alpha (12/13) signalling events;RHO GTPases activate PKNs;Sema4D induced cell migration and growth-cone collapse;RHO GTPases activate CIT;RHO GTPases Activate ROCKs PE1 1 +NX_P08138 Tumor necrosis factor receptor superfamily member 16 427 45183 4.59 1 Dendritic spine;Cell membrane;Growth cone;Perikaryon;Nucleoplasm NA Low affinity receptor which can bind to NGF, BDNF, NTF3, and NTF4. Forms a heterodimeric receptor with SORCS2 that binds the precursor forms of NGF, BDNF and NTF3 with high affinity, and has much lower affinity for mature NGF and BDNF (PubMed:24908487). Plays an important role in differentiation and survival of specific neuronal populations during development (By similarity). Can mediate cell survival as well as cell death of neural cells. Plays a role in the inactivation of RHOA (PubMed:26646181). Plays a role in the regulation of the translocation of GLUT4 to the cell surface in adipocytes and skeletal muscle cells in response to insulin, probably by regulating RAB31 activity, and thereby contributes to the regulation of insulin-dependent glucose uptake (By similarity). Necessary for the circadian oscillation of the clock genes ARNTL/BMAL1, PER1, PER2 and NR1D1 in the suprachiasmatic nucleus (SCmgetaN) of the brain and in liver and of the genes involved in glucose and lipid metabolism in the liver (PubMed:23785138). N- and O-glycosylated.;Phosphorylated on serine residues.;O-linked glycans consist of Gal(1-3)GalNAc core elongated by 1 or 2 NeuNAc. NA Cytokine-cytokine receptor interaction;Neurotrophin signaling pathway;Axonal growth inhibition (RHOA activation);Axonal growth stimulation;NRAGE signals death through JNK;p75NTR recruits signalling complexes;p75NTR negatively regulates cell cycle via SC1;Regulated proteolysis of p75NTR;NF-kB is activated and signals survival;NRIF signals cell death from the nucleus;NADE modulates death signalling;Ceramide signalling;NFG and proNGF binds to p75NTR PE1 17 +NX_P08151 Zinc finger protein GLI1 1106 117904 6.98 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Polydactyly, postaxial, A8 Acts as a transcriptional activator, but activates a different set of genes than isoform 1. Activates expression of CD24, unlike isoform 1. Mediates SHH signaling. Promotes cancer cell migration.;Acts as a transcriptional activator (PubMed:19706761, PubMed:10806483, PubMed:19878745, PubMed:24311597, PubMed:24217340). Binds to the DNA consensus sequence 5'-GACCACCCA-3' (PubMed:2105456, PubMed:8378770, PubMed:24217340). Regulates the transcription of specific genes during normal development (PubMed:19706761). Plays a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Mediates SHH signaling (PubMed:19706761, PubMed:28973407). Plays a role in cell proliferation and differentiation via its role in SHH signaling (PubMed:11238441, PubMed:28973407). Phosphorylated in vitro by ULK3.;Acetylation at Lys-518 down-regulates transcriptional activity. Deacetylated by HDAC1.;GLI1 is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the GLI C2H2-type zinc-finger protein family. Degradation of GLI1 by the proteasome;Hedgehog 'on' state;Hedgehog 'off' state;GLI proteins bind promoters of Hh responsive genes to promote transcription PE1 12 +NX_P08172 Muscarinic acetylcholine receptor M2 466 51715 9.07 7 Cell membrane;Postsynaptic cell membrane Major depressive disorder The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is adenylate cyclase inhibition. Signaling promotes phospholipase C activity, leading to the release of inositol trisphosphate (IP3); this then triggers calcium ion release into the cytosol. Phosphorylated in response to agonist treatment.;CHRM2 is phosphorylated by GRK5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM2 sub-subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Cholinergic synapse;Regulation of actin cytoskeleton;G alpha (i) signalling events;Muscarinic acetylcholine receptors;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 7 +NX_P08173 Muscarinic acetylcholine receptor M4 479 53049 9.87 7 Postsynaptic cell membrane;Nucleoplasm;Golgi apparatus;Cell membrane NA The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is inhibition of adenylate cyclase. NA Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM4 sub-subfamily. Neuroactive ligand-receptor interaction;Cholinergic synapse;Regulation of actin cytoskeleton;G alpha (i) signalling events;Muscarinic acetylcholine receptors PE1 11 +NX_P08174 Complement decay-accelerating factor 381 41400 7.79 0 Secreted;Cell membrane Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (Microbial infection) Acts as a receptor for Coxsackievirus A21, coxsackieviruses B1, B3 and B5.;(Microbial infection) Acts as a receptor for Human enterovirus 70 and D68 (Probable).;(Microbial infection) Acts as a receptor for Human echoviruses 6, 7, 11, 12, 20 and 21.;This protein recognizes C4b and C3b fragments that condense with cell-surface hydroxyl or amino groups when nascent C4b and C3b are locally generated during C4 and c3 activation. Interaction of daf with cell-associated C4b and C3b polypeptides interferes with their ability to catalyze the conversion of C2 and factor B to enzymatically active C2a and Bb and thereby prevents the formation of C4b2a and C3bBb, the amplification convertases of the complement cascade (PubMed:7525274). Inhibits complement activation by destabilizing and preventing the formation of C3 and C5 convertases, which prevents complement damage (PubMed:28657829). The Ser/Thr-rich domain is heavily O-glycosylated. Belongs to the receptors of complement activation (RCA) family. Complement and coagulation cascades;Hematopoietic cell lineage;Viral myocarditis;Class B/2 (Secretin family receptors);Regulation of Complement cascade;COPI-mediated anterograde transport;Neutrophil degranulation PE1 1 +NX_P08183 ATP-dependent translocase ABCB1 1280 141479 9.06 12 Cell membrane;Apical cell membrane;Focal adhesion;Nucleoplasm;Cytosol Inflammatory bowel disease 13 Translocates drugs and phospholipids across the membrane (PubMed:8898203, PubMed:2897240, PubMed:9038218). Catalyzes the flop of phospholipids from the cytoplasmic to the exoplasmic leaflet of the apical membrane. Participates mainly to the flop of phosphatidylcholine, phosphatidylethanolamine, beta-D-glucosylceramides and sphingomyelins (PubMed:8898203). Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells (PubMed:2897240, PubMed:9038218). NA Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. ABC transporters;Bile secretion;Abacavir transmembrane transport;ABC-family proteins mediated transport PE1 7 +NX_P08185 Corticosteroid-binding globulin 405 45141 5.64 0 Secreted Corticosteroid-binding globulin deficiency Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species. Glycosylation in position Asn-260 is needed for steroid binding.;N-glycosylated; binds 5 oligosaccharide chains. Belongs to the serpin family. NA PE1 14 +NX_P08195 4F2 cell-surface antigen heavy chain 630 67994 4.89 1 Cell membrane;Apical cell membrane;Cell junction;Lysosome membrane;Nucleoplasm;Melanosome;Cytosol NA Component of several heterodimeric amino acid transporter complexes (PubMed:11557028, PubMed:9829974, PubMed:9751058, PubMed:10391915, PubMed:10574970, PubMed:11311135). The precise substrate specificity depends on the other subunit in the heterodimer (PubMed:9829974, PubMed:9751058, PubMed:10391915, PubMed:10574970, PubMed:30867591, PubMed:10903140). The heterodimer with SLC3A2 functions as sodium-independent, high-affinity transporter that mediates uptake of large neutral amino acids such as phenylalanine, tyrosine, L-DOPA, leucine, histidine, methionine and tryptophan (PubMed:9751058, PubMed:11557028, PubMed:11311135, PubMed:11564694, PubMed:12117417, PubMed:12225859, PubMed:25998567, PubMed:30867591). The complexes with SLC7A6 and SLC7A7 mediate uptake of dibasic amino acids (PubMed:9829974, PubMed:10903140). The complexes function as amino acid exchangers (PubMed:11557028, PubMed:10903140, PubMed:12117417, PubMed:12225859, PubMed:30867591). Required for targeting of SLC7A5 and SLC7A8 to the plasma membrane and for channel activity (PubMed:9751058, PubMed:11311135, PubMed:30867591). Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. The heterodimer with SLC7A5/LAT1 may play a role in the transport of L-DOPA across the blood-brain barrier (By similarity). May mediate blood-to-retina L-leucine transport across the inner blood-retinal barrier (By similarity). The heterodimer with SLC7A5/LAT1 can mediate the transport of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane (PubMed:11564694, PubMed:12225859). When associated with SLC7A5 or SLC7A8, involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane (PubMed:15769744). The heterodimer with SLC7A5 is involved in the uptake of toxic methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes (PubMed:12117417). Together with ICAM1, regulates the transport activity SLC7A8 in polarized intestinal cells, by generating and delivering intracellular signals. When associated with LAPTM4B, the heterodimer formed by SLC3A2 and SLC7A5 is recruited to lysosomes to promote leucine uptake into these organelles, and thereby mediates mTORC1 activation (PubMed:25998567). Phosphorylation on Ser-406; Ser-408 or Ser-410 and on Ser-527 or Ser-531 by ecto-protein kinases favors heterotypic cell-cell interactions. Belongs to the SLC3A transporter family. Protein digestion and absorption;Tryptophan catabolism;Amino acid transport across the plasma membrane;Basigin interactions;Defective SLC7A7 causes lysinuric protein intolerance (LPI) PE1 11 +NX_P08217 Chymotrypsin-like elastase family member 2A 269 28888 8.8 0 Secreted NA Acts upon elastin. NA Belongs to the peptidase S1 family. Elastase subfamily. Pancreatic secretion;Protein digestion and absorption;Formation of the cornified envelope PE1 1 +NX_P08218 Chymotrypsin-like elastase family member 2B 269 28810 6.48 0 Secreted NA Acts upon elastin. NA Belongs to the peptidase S1 family. Elastase subfamily. Pancreatic secretion;Protein digestion and absorption PE1 1 +NX_P08235 Mineralocorticoid receptor 984 107082 7.22 0 Cytoplasm;Nucleoplasm;Endoplasmic reticulum membrane;Nucleus Early-onset hypertension with severe exacerbation in pregnancy;Pseudohypoaldosteronism 1, autosomal dominant Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels. Phosphorylated. Belongs to the nuclear hormone receptor family. NR3 subfamily. Aldosterone-regulated sodium reabsorption;Nuclear Receptor transcription pathway;HSP90 chaperone cycle for steroid hormone receptors (SHR);SUMOylation of intracellular receptors PE1 4 +NX_P08236 Beta-glucuronidase 651 74732 6.54 0 Cytoplasmic vesicle;Lysosome Mucopolysaccharidosis 7 Plays an important role in the degradation of dermatan and keratan sulfates. N-linked glycosylated with 3 to 4 oligosaccharide chains. Belongs to the glycosyl hydrolase 2 family. Pentose and glucuronate interconversions;Starch and sucrose metabolism;Glycosaminoglycan degradation;Porphyrin and chlorophyll metabolism;Drug metabolism - other enzymes;Metabolic pathways;Lysosome;Hyaluronan uptake and degradation;HS-GAG degradation;MPS VII - Sly syndrome;Neutrophil degranulation PE1 7 +NX_P08237 ATP-dependent 6-phosphofructokinase, muscle type 780 85183 8.23 0 Endoplasmic reticulum;Cytoplasm Glycogen storage disease 7 Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis. GlcNAcylation decreases enzyme activity. Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade 'E' sub-subfamily. Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 3/4.;Glycolysis / Gluconeogenesis;Pentose phosphate pathway;Fructose and mannose metabolism;Galactose metabolism;Metabolic pathways;Glycolysis PE1 12 +NX_P08238 Heat shock protein HSP 90-beta 724 83264 4.97 0 Cytoplasm;Cell membrane;Secreted;Melanosome;Nucleus NA Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle that is linked to its ATPase activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co-chaperones that modulate its substrate recognition, ATPase cycle and chaperone function (PubMed:16478993, PubMed:19696785). Engages with a range of client protein classes via its interaction with various co-chaperone proteins or complexes, that act as adapters, simultaneously able to interact with the specific client and the central chaperone itself. Recruitment of ATP and co-chaperone followed by client protein forms a functional chaperone. After the completion of the chaperoning process, properly folded client protein and co-chaperone leave HSP90 in an ADP-bound partially open conformation and finally, ADP is released from HSP90 which acquires an open conformation for the next cycle (PubMed:27295069, PubMed:26991466). Apart from its chaperone activity, it also plays a role in the regulation of the transcription machinery. HSP90 and its co-chaperones modulate transcription at least at three different levels. In the first place, they alter the steady-state levels of certain transcription factors in response to various physiological cues. Second, they modulate the activity of certain epigenetic modifiers, such as histone deacetylases or DNA methyl transferases, and thereby respond to the change in the environment. Third, they participate in the eviction of histones from the promoter region of certain genes and thereby turn on gene expression (PubMed:25973397). Antagonizes STUB1-mediated inhibition of TGF-beta signaling via inhibition of STUB1-mediated SMAD3 ubiquitination and degradation (PubMed:24613385). Promotes cell differentiation by chaperoning BIRC2 and thereby protecting from auto-ubiquitination and degradation by the proteasomal machinery (PubMed:18239673). Main chaperone that is involved in the phosphorylation/activation of the STAT1 by chaperoning both JAK2 and PRKCE under heat shock and in turn, activates its own transcription (PubMed:20353823). Ubiquitinated in the presence of STUB1-UBE2D1 complex (in vitro).;S-nitrosylated; negatively regulates the ATPase activity.;Methylated by SMYD2; facilitates dimerization and chaperone complex formation; promotes cancer cell proliferation.;Cleaved following oxidative stress resulting in HSP90AB1 protein radicals formation; disrupts the chaperoning function and the degradation of its client proteins.;ISGylated.;Phosphorylation at Tyr-301 by SRC is induced by lipopolysaccharide (PubMed:23585225). Phosphorylation at Ser-226 and Ser-255 inhibits AHR interaction (PubMed:15581363).;HSP90AB1 is phosphorylated by MAPK3 Belongs to the heat shock protein 90 family. Protein processing in endoplasmic reticulum;Antigen processing and presentation;NOD-like receptor signaling pathway;Progesterone-mediated oocyte maturation;Pathways in cancer;Prostate cancer;Regulation of actin dynamics for phagocytic cup formation;The NLRP3 inflammasome;Uptake and function of diphtheria toxin;Attenuation phase;HSF1-dependent transactivation;Sema3A PAK dependent Axon repulsion;HSF1 activation;The role of GTSE1 in G2/M progression after G2 checkpoint;Neutrophil degranulation;Aryl hydrocarbon receptor signalling;HSP90 chaperone cycle for steroid hormone receptors (SHR);Estrogen-dependent gene expression;ESR-mediated signaling;Chaperone Mediated Autophagy PE1 6 +NX_P08240 Signal recognition particle receptor subunit alpha 638 69811 9.07 0 Endoplasmic reticulum membrane NA Component of the SRP (signal recognition particle) receptor. Ensures, in conjunction with the signal recognition particle, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system. NA Belongs to the GTP-binding SRP family. Protein export;XBP1(S) activates chaperone genes;SRP-dependent cotranslational protein targeting to membrane PE1 11 +NX_P08243 Asparagine synthetase [glutamine-hydrolyzing] 561 64370 6.39 0 Cytosol Asparagine synthetase deficiency NA NA NA Amino-acid biosynthesis; L-asparagine biosynthesis; L-asparagine from L-aspartate (L-Gln route): step 1/1.;Alanine, aspartate and glutamate metabolism;Nitrogen metabolism;Metabolic pathways;ATF4 activates genes in response to endoplasmic reticulum stress;Aspartate and asparagine metabolism PE1 7 +NX_P08246 Neutrophil elastase 267 28518 9.71 0 Phagosome Neutropenia, severe congenital 1, autosomal dominant;Cyclic haematopoiesis Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis (PubMed:15140022). Capable of killing E.coli but not S.aureus in vitro; digests outer membrane protein A (ompA) in E.coli and K.pneumoniae (PubMed:10947984). NA Belongs to the peptidase S1 family. Elastase subfamily. Systemic lupus erythematosus;Degradation of the extracellular matrix;Collagen degradation;Regulation of Complement cascade;Activation of Matrix Metalloproteinases;Neutrophil degranulation;Antimicrobial peptides PE1 19 +NX_P08247 Synaptophysin 313 33845 4.66 4 Synaptic vesicle membrane;Synaptosome Mental retardation, X-linked 96 Possibly involved in structural functions as organizing other membrane components or in targeting the vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity (By similarity). Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation. Belongs to the synaptophysin/synaptobrevin family. NA PE1 X +NX_P08253 72 kDa type IV collagenase 660 73882 5.26 0 Cytoplasm;Mitochondrion;Extracellular matrix;Membrane;Cytoplasmic vesicle;Nucleus Multicentric osteolysis, nodulosis, and arthropathy PEX, the C-terminal non-catalytic fragment of MMP2, posseses anti-angiogenic and anti-tumor properties and inhibits cell migration and cell adhesion to FGF2 and vitronectin. Ligand for integrinv/beta3 on the surface of blood vessels.;Mediates the proteolysis of CHUK/IKKA and initiates a primary innate immune response by inducing mitochondrial-nuclear stress signaling with activation of the pro-inflammatory NF-kappaB, NFAT and IRF transcriptional pathways.;Ubiquitinous metalloproteinase that is involved in diverse functions such as remodeling of the vasculature, angiogenesis, tissue repair, tumor invasion, inflammation, and atherosclerotic plaque rupture. As well as degrading extracellular matrix proteins, can also act on several nonmatrix proteins such as big endothelial 1 and beta-type CGRP promoting vasoconstriction. Also cleaves KISS at a Gly-|-Leu bond. Appears to have a role in myocardial cell death pathways. Contributes to myocardial oxidative stress by regulating the activity of GSK3beta. Cleaves GSK3beta in vitro. Involved in the formation of the fibrovascular tissues in association with MMP14. The propeptide is processed by MMP14 (MT-MMP1) and MMP16 (MT-MMP3). Autocatalytic cleavage in the C-terminal produces the anti-angiogenic peptide, PEX. This processing appears to be facilitated by binding integrinv/beta3.;Phosphorylation on multiple sites modulates enzymatic activity. Phosphorylated by PKC in vitro. Belongs to the peptidase M10A family. Leukocyte transendothelial migration;GnRH signaling pathway;Pathways in cancer;Bladder cancer;Degradation of the extracellular matrix;EPH-ephrin mediated repulsion of cells;Collagen degradation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Activation of Matrix Metalloproteinases;Interleukin-4 and Interleukin-13 signaling;Extra-nuclear estrogen signaling PE1 16 +NX_P08254 Stromelysin-1 477 53977 5.77 0 Cytoplasmic vesicle;Extracellular matrix Coronary heart disease 6 Can degrade fibronectin, laminin, gelatins of type I, III, IV, and V; collagens III, IV, X, and IX, and cartilage proteoglycans. Activates procollagenase. NA Belongs to the peptidase M10A family. Rheumatoid arthritis;Degradation of the extracellular matrix;Collagen degradation;EGFR Transactivation by Gastrin;Assembly of collagen fibrils and other multimeric structures;Activation of Matrix Metalloproteinases;Interleukin-4 and Interleukin-13 signaling;Extra-nuclear estrogen signaling PE1 11 +NX_P08263 Glutathione S-transferase A1 222 25631 8.91 0 Cytoplasm NA Glutathione S-transferase that catalyzes the nucleophilic attack of the sulfur atom of glutathione on the electrophilic groups of a wide range of exogenous and endogenous compounds (Probable). Involved in the formation of glutathione conjugates of both prostaglandin A2 (PGA2) and prostaglandin J2 (PGJ2) (PubMed:9084911). It also catalyzes the isomerization of D5-androstene-3,17-dione (AD) into D4-androstene-3,17-dione and may therefore play an important role in hormone biosynthesis (PubMed:11152686). Through its glutathione-dependent peroxidase activity toward the fatty acid hydroperoxide (13S)-hydroperoxy-(9Z,11E)-octadecadienoate/13-HPODE it is also involved in the metabolism of oxidized linoleic acid (PubMed:16624487). NA Belongs to the GST superfamily. Alpha family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Glutathione conjugation PE1 6 +NX_P08294 Extracellular superoxide dismutase [Cu-Zn] 240 25851 6.13 0 Extracellular space NA Protect the extracellular space from toxic effect of reactive oxygen intermediates by converting superoxide radicals into hydrogen peroxide and oxygen. NA Belongs to the Cu-Zn superoxide dismutase family. Detoxification of Reactive Oxygen Species PE1 4 +NX_P08311 Cathepsin G 255 28837 11.19 0 Cell surface NA Serine protease with trypsin- and chymotrypsin-like specificity. Cleaves complement C3. Has antibacterial activity against the Gram-negative bacterium P.aeruginosa, antibacterial activity is inhibited by LPS from P.aeruginosa, Z-Gly-Leu-Phe-CH2Cl and phenylmethylsulfonyl fluoride. NA Belongs to the peptidase S1 family. Neuroactive ligand-receptor interaction;Lysosome;Renin-angiotensin system;Amoebiasis;Systemic lupus erythematosus;Degradation of the extracellular matrix;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Activation of Matrix Metalloproteinases;Metabolism of Angiotensinogen to Angiotensins;Interleukin-1 processing;Neutrophil degranulation;Antimicrobial peptides PE1 14 +NX_P08319 All-trans-retinol dehydrogenase [NAD(+)] ADH4 380 40222 8.25 0 Nucleoplasm;Cytosol;Cytoplasm NA Catalyzes the NAD-dependent oxidation of either all-trans-retinol or 9-cis-retinol (PubMed:17279314). Also oxidizes long chain omega-hydroxy fatty acids, such as 20-HETE, producing both the intermediate aldehyde, 20-oxoarachidonate and the end product, a dicarboxylic acid, (5Z,8Z,11Z,14Z)-eicosatetraenedioate (PubMed:16081420). Also catalyzes the reduction of benzoquinones (PubMed:10514444). NA Belongs to the zinc-containing alcohol dehydrogenase family. Class-II subfamily. Glycolysis / Gluconeogenesis;Fatty acid metabolism;Tyrosine metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;RA biosynthesis pathway;Ethanol oxidation PE1 4 +NX_P08397 Porphobilinogen deaminase 361 39330 6.68 0 Cytoplasm;Lipid droplet Acute intermittent porphyria Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps. NA Belongs to the HMBS family. Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 2/4.;Porphyrin and chlorophyll metabolism;Metabolic pathways;Heme biosynthesis PE1 11 +NX_P08473 Neprilysin 750 85514 5.54 1 Cell membrane Spinocerebellar ataxia 43;Charcot-Marie-Tooth disease 2T Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids (PubMed:15283675, PubMed:8168535). Biologically important in the destruction of opioid peptides such as Met- and Leu-enkephalins by cleavage of a Gly-Phe bond (PubMed:17101991). Able to cleave angiotensin-1, angiotensin-2 and angiotensin 1-9 (PubMed:15283675). Involved in the degradation of atrial natriuretic factor (ANF) (PubMed:2531377, PubMed:2972276). Displays UV-inducible elastase activity toward skin preelastic and elastic fibers (PubMed:20876573). Glycosylation at Asn-628 is necessary both for surface expression and neutral endopeptidase activity.;Myristoylation is a determinant of membrane targeting. Belongs to the peptidase M13 family. Renin-angiotensin system;Hematopoietic cell lineage;Protein digestion and absorption;Alzheimer's disease;Metabolism of Angiotensinogen to Angiotensins;Neutrophil degranulation PE1 3 +NX_P08476 Inhibin beta A chain 426 47442 8.3 0 Secreted NA Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins. NA Belongs to the TGF-beta family. Cytokine-cytokine receptor interaction;TGF-beta signaling pathway;Glycoprotein hormones;Signaling by Activin;Antagonism of Activin by Follistatin PE1 7 +NX_P08493 Matrix Gla protein 103 12353 9.71 0 Secreted Keutel syndrome Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation. Requires vitamin K-dependent gamma-carboxylation for its function. Belongs to the osteocalcin/matrix Gla protein family. NA PE1 12 +NX_P08514 Integrin alpha-IIb 1039 113377 5.21 1 Membrane;Cell membrane Bleeding disorder, platelet-type 16;Glanzmann thrombasthenia Integrin alpha-IIb/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognizes the sequence R-G-D in a wide array of ligands. It recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface. NA Belongs to the integrin alpha chain family. Focal adhesion;ECM-receptor interaction;Hematopoietic cell lineage;Regulation of actin cytoskeleton;Pathways in cancer;Small cell lung cancer;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Signal transduction by L1;MAP2K and MAPK activation;Integrin cell surface interactions;Platelet degranulation;ECM proteoglycans;Integrin alphaIIb beta3 signaling;GRB2:SOS provides linkage to MAPK signaling for Integrins;p130Cas linkage to MAPK signaling for integrins;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 17 +NX_P08519 Apolipoprotein(a) 4548 501319 5.58 0 NA NA Apo(a) is the main constituent of lipoprotein(a) (Lp(a)). It has serine proteinase activity and is able of autoproteolysis. Inhibits tissue-type plasminogen activator 1. Lp(a) may be a ligand for megalin/Gp 330. N- and O-glycosylated. The N-glycans are complex biantennary structures present in either a mono- or disialylated state. The O-glycans are mostly (80%) represented by the monosialylated core type I structure, NeuNAcalpha2-3Galbeta1-3GalNAc, with smaller amounts of disialylated and non-sialylated O-glycans also detected. Belongs to the peptidase S1 family. Plasminogen subfamily. LDL remodeling PE1 6 +NX_P08559 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial 390 43296 8.35 0 Mitochondrion matrix Pyruvate dehydrogenase E1-alpha deficiency The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle. Acetylation alters the phosphorylation pattern. Deacetylated by SIRT3 (By similarity).;Phosphorylation at Ser-232, Ser-293 and Ser-300 by PDK family kinases inactivates the enzyme; for this phosphorylation at a single site is sufficient. Dephosphorylation at all three sites, i.e. At Ser-232, Ser-293 and Ser-300, is required for reactivation. NA Glycolysis / Gluconeogenesis;Citrate cycle (TCA cycle);Valine, leucine and isoleucine biosynthesis;Pyruvate metabolism;Butanoate metabolism;Metabolic pathways;Signaling by Retinoic Acid;Regulation of pyruvate dehydrogenase (PDH) complex;Pyruvate metabolism;Glyoxylate metabolism and glycine degradation PE1 X +NX_P08567 Pleckstrin 350 40125 8.51 0 Nucleolus NA Major protein kinase C substrate of platelets. NA NA Platelet degranulation PE1 2 +NX_P08571 Monocyte differentiation antigen CD14 375 40076 5.84 0 Golgi apparatus;Cell membrane;Secreted;Cytoplasmic vesicle;Membrane raft NA Coreceptor for bacterial lipopolysaccharide (PubMed:1698311, PubMed:23264655). In concert with LBP, binds to monomeric lipopolysaccharide and delivers it to the LY96/TLR4 complex, thereby mediating the innate immune response to bacterial lipopolysaccharide (LPS) (PubMed:20133493, PubMed:23264655). Acts via MyD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:8612135). Acts as a coreceptor for TLR2:TLR6 heterodimer in response to diacylated lipopeptides and for TLR2:TLR1 heterodimer in response to triacylated lipopeptides, these clusters trigger signaling from the cell surface and subsequently are targeted to the Golgi in a lipid-raft dependent pathway (PubMed:16880211). Binds electronegative LDL (LDL(-)) and mediates the cytokine release induced by LDL(-) (PubMed:23880187). N- and O- glycosylated. O-glycosylated with a core 1 or possibly core 8 glycan. NA MAPK signaling pathway;Phagosome;Toll-like receptor signaling pathway;Hematopoietic cell lineage;Regulation of actin cytoskeleton;Pathogenic Escherichia coli infection;Salmonella infection;Pertussis;Legionellosis;Amoebiasis;Tuberculosis;ER-Phagosome pathway;MyD88:MAL(TIRAP) cascade initiated on plasma membrane;MyD88 deficiency (TLR2/4);IRAK4 deficiency (TLR2/4);Toll Like Receptor 4 (TLR4) Cascade;Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;Toll Like Receptor TLR1:TLR2 Cascade;Caspase activation via Death Receptors in the presence of ligand;MyD88-independent TLR4 cascade;TRIF-mediated programmed cell death;IKK complex recruitment mediated by RIP1;TRAF6-mediated induction of TAK1 complex within TLR4 complex;IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation;Toll Like Receptor TLR6:TLR2 Cascade;Transfer of LPS from LBP carrier to CD14;Regulation of TLR by endogenous ligand;Neutrophil degranulation PE1 5 +NX_P08572 Collagen alpha-2(IV) chain 1712 167553 8.89 0 Cytoplasmic vesicle;Basement membrane Intracerebral hemorrhage;Brain small vessel disease 2 Canstatin, a cleavage product corresponding to the collagen alpha 2(IV) NC1 domain, possesses both anti-angiogenic and anti-tumor cell activity. It inhibits proliferation and migration of endothelial cells, reduces mitochondrial membrane potential, and induces apoptosis. Specifically induces Fas-dependent apoptosis and activates procaspase-8 and -9 activity. Ligand for alphavbeta3 and alphavbeta5 integrins.;Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.;Proteolytic processing produces the C-terminal NC1 peptide, canstatin.;Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens.;The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues. Belongs to the type IV collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Amoebiasis;Pathways in cancer;Small cell lung cancer;Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Scavenging by Class A Receptors;Non-integrin membrane-ECM interactions;Laminin interactions;Crosslinking of collagen fibrils;Anchoring fibril formation;Extracellular matrix organization;Collagen chain trimerization PE1 13 +NX_P08574 Cytochrome c1, heme protein, mitochondrial 325 35422 9.15 1 Mitochondrion;Nucleoplasm;Cytosol;Mitochondrion inner membrane;Nucleus Mitochondrial complex III deficiency, nuclear 6 This is the heme-containing component of the cytochrome b-c1 complex, which accepts electrons from Rieske protein and transfers electrons to cytochrome c in the mitochondrial respiratory chain. Binds 1 heme group per subunit. Belongs to the cytochrome c family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Mitochondrial protein import;Respiratory electron transport PE1 8 +NX_P08575 Receptor-type tyrosine-protein phosphatase C 1306 147486 5.77 1 Cytoplasmic vesicle;Nucleoplasm;Membrane raft;Cell membrane Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive;Multiple sclerosis (Microbial infection) Acts as a receptor for human cytomegalovirus protein UL11 and mediates binding of UL11 to T-cells, leading to reduced induction of tyrosine phosphorylation of multiple signaling proteins upon T-cell receptor stimulation and impaired T-cell proliferation.;Protein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor. Acts as a positive regulator of T-cell coactivation upon binding to DPP4. The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one. Upon T-cell activation, recruits and dephosphorylates SKAP1 and FYN. Dephosphorylates LYN, and thereby modulates LYN activity (By similarity). Heavily N- and O-glycosylated. Belongs to the protein-tyrosine phosphatase family. Receptor class 1/6 subfamily. Cell adhesion molecules (CAMs);T cell receptor signaling pathway;Fc gamma R-mediated phagocytosis;Primary immunodeficiency;Phosphorylation of CD3 and TCR zeta chains;Other semaphorin interactions;Neutrophil degranulation PE1 1 +NX_P08579 U2 small nuclear ribonucleoprotein B'' 225 25486 9.72 0 Cytosol;Nucleus speckle;Nucleus NA Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Associated with sn-RNP U2, where it contributes to the binding of stem loop IV of U2 snRNA (PubMed:9716128). NA Belongs to the RRM U1 A/B'' family. Spliceosome;mRNA Splicing - Major Pathway PE1 20 +NX_P08581 Hepatocyte growth factor receptor 1390 155541 7.02 1 Membrane;Cytosol;Secreted;Cell membrane Hepatocellular carcinoma;Renal cell carcinoma papillary;Osteofibrous dysplasia;Deafness, autosomal recessive, 97 (Microbial infection) Acts as a receptor for Listeria monocytogenes internalin InlB, mediating entry of the pathogen into cells.;Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand. Regulates many physiological processes including proliferation, scattering, morphogenesis and survival. Ligand binding at the cell surface induces autophosphorylation of MET on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1, SRC, GRB2, STAT3 or the adapter GAB1. Recruitment of these downstream effectors by MET leads to the activation of several signaling cascades including the RAS-ERK, PI3 kinase-AKT, or PLCgamma-PKC. The RAS-ERK activation is associated with the morphogenetic effects while PI3K/AKT coordinates prosurvival effects. During embryonic development, MET signaling plays a role in gastrulation, development and migration of muscles and neuronal precursors, angiogenesis and kidney formation. In adults, participates in wound healing as well as organ regeneration and tissue remodeling. Promotes also differentiation and proliferation of hematopoietic cells. May regulate cortical bone osteogenesis (By similarity). Autophosphorylated in response to ligand binding on Tyr-1234 and Tyr-1235 in the kinase domain leading to further phosphorylation of Tyr-1349 and Tyr-1356 in the C-terminal multifunctional docking site. Dephosphorylated by PTPRJ at Tyr-1349 and Tyr-1365. Dephosphorylated by PTPN1 and PTPN2.;(Microbial infection) Tyrosine phosphorylation is stimulated by L.monocytogenes InlB. Tyrosine phosphorylation is maximal 10-20 minutes after treatment with InlB and disappears by 60 minutes. The phosphorylated residues were not identified.;Ubiquitinated. Ubiquitination by CBL regulates MET endocytosis, resulting in decreasing plasma membrane receptor abundance, and in endosomal degradation and/or recycling of internalized receptors. Belongs to the protein kinase superfamily. Tyr protein kinase family. Cytokine-cytokine receptor interaction;Endocytosis;Axon guidance;Focal adhesion;Adherens junction;Bacterial invasion of epithelial cells;Epithelial cell signaling in Helicobacter pylori infection;Malaria;Pathways in cancer;Renal cell carcinoma;Melanoma;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Sema4D mediated inhibition of cell attachment and migration;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of MET activity;MET activates PTK2 signaling;MET interacts with TNS proteins;MET activates RAS signaling;MET activates RAP1 and RAC1;MET activates PI3K/AKT signaling;MET activates PTPN11;MET receptor recycling;MET Receptor Activation;MET activates STAT3;InlB-mediated entry of Listeria monocytogenes into host cell;MECP2 regulates neuronal receptors and channels PE1 7 +NX_P08582 Melanotransferrin 738 80215 5.61 0 Cell membrane NA Involved in iron cellular uptake. Seems to be internalized and then recycled back to the cell membrane. Binds a single atom of iron per subunit. Could also bind zinc. NA Belongs to the transferrin family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational modification: synthesis of GPI-anchored proteins;Post-translational protein phosphorylation PE1 3 +NX_P08588 Beta-1 adrenergic receptor 477 51323 9.23 7 Early endosome;Cell membrane NA Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor binds epinephrine and norepinephrine with approximately equal affinity. Mediates Ras activation through G(s)-alpha- and cAMP-mediated signaling. Homologous desensitization of the receptor is mediated by its phosphorylation by beta-adrenergic receptor kinase.;ADRB1 is phosphorylated by GRK5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRB1 sub-subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Endocytosis;Gap junction;Salivary secretion;Dilated cardiomyopathy;G alpha (s) signalling events;Adrenoceptors PE1 10 +NX_P08590 Myosin light chain 3 195 21932 5.03 0 Mitochondrion;Nucleolus Cardiomyopathy, familial hypertrophic 8 Regulatory light chain of myosin. Does not bind calcium. N-terminus is methylated by METTL11A/NTM1.;The N-terminus is blocked. NA Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;Striated Muscle Contraction PE1 3 +NX_P08603 Complement factor H 1231 139096 6.21 0 Secreted Basal laminar drusen;Hemolytic uremic syndrome atypical 1;Complement factor H deficiency;Macular degeneration, age-related, 4 Glycoprotein that plays an essential role in maintaining a well-balanced immune response by modulating complement activation. Acts as a soluble inhibitor of complement, where its binding to self markers such as glycan structures prevents complement activation and amplification on cell surfaces (PubMed:21285368, PubMed:25402769). Accelerates the decay of the complement alternative pathway (AP) C3 convertase C3bBb, thus preventing local formation of more C3b, the central player of the complement amplification loop (PubMed:19503104). As a cofactor of the serine protease factor I, CFH also regulates proteolytic degradation of already-deposited C3b (PubMed:18252712, PubMed:28671664). In addition, mediates several cellular responses through interaction with specific receptors. For example, interacts with CR3/ITGAM receptor and thereby mediates the adhesion of human neutrophils to different pathogens. In turn, these pathogens are phagocytosed and destroyed (PubMed:9558116, PubMed:20008295). NA NA Complement and coagulation cascades;Staphylococcus aureus infection;Regulation of Complement cascade PE1 1 +NX_P08620 Fibroblast growth factor 4 206 22048 9.73 0 Secreted NA Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal limb and cardiac valve development during embryogenesis. NA Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;Signaling by activated point mutants of FGFR1;Signaling by activated point mutants of FGFR3;FGFR4 ligand binding and activation;FGFR3c ligand binding and activation;FGFR1c ligand binding and activation;FGFR2c ligand binding and activation;FGFR3 mutant receptor activation;Activated point mutants of FGFR2;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade: FGFR1;Phospholipase C-mediated cascade, FGFR2;Phospholipase C-mediated cascade, FGFR3;Phospholipase C-mediated cascade, FGFR4;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;SHC-mediated cascade:FGFR3;FRS-mediated FGFR3 signaling;PI-3K cascade:FGFR3;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;PI-3K cascade:FGFR4;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Downstream signaling of activated FGFR1;FGFRL1 modulation of FGFR1 signaling;Signaling by FGFR3 point mutants in cancer PE1 11 +NX_P08621 U1 small nuclear ribonucleoprotein 70 kDa 437 51557 9.94 0 Nucleoplasm;Nucleus speckle NA Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome (PubMed:19325628, PubMed:25555158). SNRNP70 binds to the loop I region of U1-snRNA (PubMed:2467746, PubMed:19325628, PubMed:25555158).;Truncated isoforms that lack the RRM domain cannot bind U1-snRNA.;Truncated isoforms that lack the RRM domain cannot bind U1-snRNA. Extensively phosphorylated on serine residues in the C-terminal region.;The N-terminus is blocked. NA Spliceosome;mRNA Splicing - Major Pathway PE1 19 +NX_P08631 Tyrosine-protein kinase HCK 526 59600 6.27 0 Golgi apparatus;Secretory vesicle;Cell membrane;Focal adhesion;Podosome membrane;Nucleoplasm;Membrane;Caveola;Lysosome;Cytoplasmic vesicle;Cytosol;Nucleus;Cytoskeleton NA Non-receptor tyrosine-protein kinase found in hematopoietic cells that transmits signals from cell surface receptors and plays an important role in the regulation of innate immune responses, including neutrophil, monocyte, macrophage and mast cell functions, phagocytosis, cell survival and proliferation, cell adhesion and migration. Acts downstream of receptors that bind the Fc region of immunoglobulins, such as FCGR1A and FCGR2A, but also CSF3R, PLAUR, the receptors for IFNG, IL2, IL6 and IL8, and integrins, such as ITGB1 and ITGB2. During the phagocytic process, mediates mobilization of secretory lysosomes, degranulation, and activation of NADPH oxidase to bring about the respiratory burst. Plays a role in the release of inflammatory molecules. Promotes reorganization of the actin cytoskeleton and actin polymerization, formation of podosomes and cell protrusions. Inhibits TP73-mediated transcription activation and TP73-mediated apoptosis. Phosphorylates CBL in response to activation of immunoglobulin gamma Fc region receptors. Phosphorylates ADAM15, BCR, ELMO1, FCGR2A, GAB1, GAB2, RAPGEF1, STAT5B, TP73, VAV1 and WAS. Ubiquitinated by CBL, leading to its degradation via the proteasome.;Palmitoylation at position 2 requires prior myristoylation. Palmitoylation at position 3 is required for caveolar localization of isoform 2.;Phosphorylated on several tyrosine residues. Autophosphorylated. Becomes rapidly phosphorylated upon activation of the immunoglobulin receptors FCGR1A and FCGR2A. Phosphorylation by the BCR-ABL fusion protein mediates activation of HCK. Phosphorylation at Tyr-411 increases kinase activity. Phosphorylation at Tyr-522 inhibits kinase activity. Kinase activity is not required for phosphorylation at Tyr-522, suggesting that this site is a target of other kinases. Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily. Chemokine signaling pathway;Fc gamma R-mediated phagocytosis;FCGR activation;Nef and signal transduction;Regulation of signaling by CBL;FLT3 Signaling PE1 20 +NX_P08637 Low affinity immunoglobulin gamma Fc region receptor III-A 254 29089 8.2 1 Secreted;Cell membrane Immunodeficiency 20 Receptor for the Fc region of IgG. Binds complexed or aggregated IgG and also monomeric IgG. Mediates antibody-dependent cellular cytotoxicity (ADCC) and other antibody-dependent responses, such as phagocytosis. The soluble form is produced by a proteolytic cleavage.;Glycosylated. Contains high mannose- and complex-type oligosaccharides. Glycosylation at Asn-180 is mandatory for high affinity binding to the Fc and for discrimination between fucosylated and afucosylated IgG glycoforms. NA Phagosome;Osteoclast differentiation;Natural killer cell mediated cytotoxicity;Fc gamma R-mediated phagocytosis;Leishmaniasis;Staphylococcus aureus infection;Tuberculosis;Systemic lupus erythematosus;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of phospholipids in phagocytosis;FCGR activation PE1 1 +NX_P08648 Integrin alpha-5 1049 114536 5.5 1 Cell surface;Membrane;Focal adhesion NA (Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human parvovirus B19.;(Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions.;(Microbial infection) Integrin ITGA5:ITGB1 acts as a receptor for Human metapneumovirus.;Integrin alpha-5/beta-1 (ITGA5:ITGB1) is a receptor for fibronectin and fibrinogen. It recognizes the sequence R-G-D in its ligands. ITGA5:ITGB1 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGA5:ITGB1 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). ITGA5:ITGB1 is a receptor for IL1B and binding is essential for IL1B signaling (PubMed:29030430). Proteolytic cleavage by PCSK5 mediates activation of the precursor. Belongs to the integrin alpha chain family. Phagosome;Focal adhesion;ECM-receptor interaction;Hematopoietic cell lineage;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Shigellosis;Pertussis;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Signal transduction by L1;Integrin cell surface interactions;Cell surface interactions at the vascular wall;Elastic fibre formation;Fibronectin matrix formation;RUNX2 regulates genes involved in cell migration PE1 12 +NX_P08651 Nuclear factor 1 C-type 508 55675 8.62 0 Nucleoplasm;Nucleolus;Nucleus NA Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication. NA Belongs to the CTF/NF-I family. RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation PE1 19 +NX_P08670 Vimentin 466 53652 5.06 0 Golgi apparatus;Cytoplasm;Cell membrane;Nucleus matrix;Cytoskeleton Cataract 30, multiple types Vimentins are class-III intermediate filaments found in various non-epithelial cells, especially mesenchymal cells. Vimentin is attached to the nucleus, endoplasmic reticulum, and mitochondria, either laterally or terminally.;Involved with LARP6 in the stabilization of type I collagen mRNAs for CO1A1 and CO1A2. S-nitrosylation is induced by interferon-gamma and oxidatively-modified low-densitity lipoprotein (LDL(ox)) possibly implicating the iNOS-S100A8/9 transnitrosylase complex.;O-glycosylated during cytokinesis at sites identical or close to phosphorylation sites, this interferes with the phosphorylation status.;Filament disassembly during mitosis is promoted by phosphorylation at Ser-55 as well as by nestin (By similarity). One of the most prominent phosphoproteins in various cells of mesenchymal origin. Phosphorylation is enhanced during cell division, at which time vimentin filaments are significantly reorganized. Phosphorylation by PKN1 inhibits the formation of filaments. Phosphorylated at Ser-56 by CDK5 during neutrophil secretion in the cytoplasm (PubMed:21465480). Phosphorylated by STK33 (PubMed:18811945). Phosphorylated on tyrosine residues by SRMS (PubMed:29496907).;VIM is phosphorylated by MAPK3;VIM is phosphorylated by STK33 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);VIM is phosphorylated by PKN1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the intermediate filament family. Caspase-mediated cleavage of cytoskeletal proteins;Striated Muscle Contraction;Interleukin-4 and Interleukin-13 signaling PE1 10 +NX_P08684 Cytochrome P450 3A4 503 57343 8.27 1 Microsome membrane;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of sterols, steroid hormones, retinoids and fatty acids (PubMed:10681376, PubMed:11093772, PubMed:11555828, PubMed:14559847, PubMed:12865317, PubMed:15373842, PubMed:15764715, PubMed:20702771, PubMed:19965576, PubMed:21490593, PubMed:21576599). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds (PubMed:2732228, PubMed:14559847, PubMed:12865317, PubMed:15373842, PubMed:15764715, PubMed:21576599, PubMed:21490593). Exhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2-hydroxy E1 and E2, as well as D-ring hydroxylated E1 and E2 at the C-16 position (PubMed:11555828, PubMed:14559847, PubMed:12865317). Plays a role in the metabolism of androgens, particularly in oxidative deactivation of testosterone (PubMed:2732228, PubMed:15373842, PubMed:15764715, PubMed:22773874). Metabolizes testosterone to less biologically active 2beta- and 6beta-hydroxytestosterones (PubMed:2732228, PubMed:15373842, PubMed:15764715). Contributes to the formation of hydroxycholesterols (oxysterols), particularly A-ring hydroxylated cholesterol at the C-4beta position, and side chain hydroxylated cholesterol at the C-25 position, likely contributing to cholesterol degradation and bile acid biosynthesis (PubMed:21576599). Catalyzes bisallylic hydroxylation of polyunsaturated fatty acids (PUFA) (PubMed:9435160). Catalyzes the epoxidation of double bonds of PUFA with a preference for the last double bond (PubMed:19965576). Metabolizes endocannabinoid arachidonoylethanolamide (anandamide) to 8,9-, 11,12-, and 14,15-epoxyeicosatrienoic acid ethanolamides (EpETrE-EAs), potentially modulating endocannabinoid system signaling (PubMed:20702771). Plays a role in the metabolism of retinoids. Displays high catalytic activity for oxidation of all-trans-retinol to all-trans-retinal, a rate-limiting step for the biosynthesis of all-trans-retinoic acid (atRA) (PubMed:10681376). Further metabolizes atRA toward 4-hydroxyretinoate and may play a role in hepatic atRA clearance (PubMed:11093772). Responsible for oxidative metabolism of xenobiotics. Acts as a 2-exo-monooxygenase for plant lipid 1,8-cineole (eucalyptol) (PubMed:11159812). Metabolizes the majority of the administered drugs. Catalyzes sulfoxidation of the anthelmintics albendazole and fenbendazole (PubMed:10759686). Hydroxylates antimalarial drug quinine (PubMed:8968357). Polyubiquitinated in the presence of AMFR and UBE2G1 and also STUB1/CHIP and UBE2D1 (in vitro). Belongs to the cytochrome P450 family. Steroid hormone biosynthesis.;Cofactor metabolism; retinol metabolism.;Steroid metabolism; cholesterol metabolism.;Lipid metabolism; fatty acid metabolism.;Steroid hormone biosynthesis;Linoleic acid metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Bile secretion;Xenobiotics;Aflatoxin activation and detoxification;Biosynthesis of maresin-like SPMs PE1 7 +NX_P08686 Steroid 21-hydroxylase 494 55887 7.71 0 Microsome membrane;Endoplasmic reticulum membrane Adrenal hyperplasia 3 Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids (PubMed:22014889). NA Belongs to the cytochrome P450 family. Steroid hormone biosynthesis;Metabolic pathways;Endogenous sterols;Glucocorticoid biosynthesis;Mineralocorticoid biosynthesis;Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3) PE1 6 +NX_P08697 Alpha-2-antiplasmin 491 54566 5.87 0 Secreted Alpha-2-plasmin inhibitor deficiency Serine protease inhibitor. The major targets of this inhibitor are plasmin and trypsin, but it also inactivates matriptase-3/TMPRSS7 and chymotrypsin. Proteolytically cleaved at Pro-39 by both the prolyl endopeptidase FAP form and antiplasmin-cleaving enzyme FAP soluble form to generate mature alpha-2-antiplasmin. Belongs to the serpin family. Complement and coagulation cascades;Platelet degranulation;Dissolution of Fibrin Clot PE1 17 +NX_P08700 Interleukin-3 152 17233 8.69 0 Secreted NA Granulocyte/macrophage colony-stimulating factors are cytokines that act in hematopoiesis by controlling the production, differentiation, and function of 2 related white cell populations of the blood, the granulocytes and the monocytes-macrophages.;This CSF induces granulocytes, macrophages, mast cells, stem cells, erythroid cells, eosinophils and megakaryocytes. NA Belongs to the IL-3 family. Cytokine-cytokine receptor interaction;Apoptosis;Jak-STAT signaling pathway;Hematopoietic cell lineage;Fc epsilon RI signaling pathway;Asthma;RAF/MAP kinase cascade;Interleukin receptor SHC signaling;Interleukin-3, Interleukin-5 and GM-CSF signaling;RUNX1 regulates transcription of genes involved in interleukin signaling PE1 5 +NX_P08708 40S ribosomal protein S17 135 15550 9.85 0 Cytoplasm;Nucleolus;Endoplasmic reticulum;Cytosol;Nucleus Diamond-Blackfan anemia 4 NA NA Belongs to the eukaryotic ribosomal protein eS17 family. Ribosome;Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 15 +NX_P08709 Coagulation factor VII 466 51594 6.92 0 Mitochondrion;Secreted Factor VII deficiency Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa by limited proteolysis. Factor VIIa will also convert factor IX to factor IXa in the presence of tissue factor and calcium. Can be either O-glucosylated or O-xylosylated at Ser-112 by POGLUT1 in vitro.;The vitamin K-dependent, enzymatic carboxylation of some glutamate residues allows the modified protein to bind calcium.;O- and N-glycosylated. N-glycosylation at Asn-205 occurs cotranslationally and is mediated by STT3A-containing complexes, while glycosylation at Asn-382 is post-translational and is mediated STT3B-containing complexes before folding. O-fucosylated by POFUT1 on a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines.;The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. Belongs to the peptidase S1 family. Complement and coagulation cascades;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Extrinsic Pathway of Fibrin Clot Formation;Gamma-carboxylation of protein precursors;Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus;Removal of aminoterminal propeptides from gamma-carboxylated proteins PE1 13 +NX_P08727 Keratin, type I cytoskeletal 19 400 44106 5.05 0 Cytoskeleton NA Involved in the organization of myofibers. Together with KRT8, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle. NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_P08729 Keratin, type II cytoskeletal 7 469 51386 5.4 0 Cytoplasm;Cytoskeleton NA Blocks interferon-dependent interphase and stimulates DNA synthesis in cells. Involved in the translational regulation of the human papillomavirus type 16 E7 mRNA (HPV16 E7). Arg-20 is dimethylated, probably to asymmetric dimethylarginine. Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_P08754 Guanine nucleotide-binding protein G(i) subunit alpha 354 40532 5.5 0 Membrane;Cytoplasm;Centrosome;Cell membrane Auriculocondylar syndrome 1 Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:8774883, PubMed:18434541, PubMed:19478087). Signaling is mediated via effector proteins, such as adenylate cyclase. Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels (PubMed:19478087). Stimulates the activity of receptor-regulated K(+) channels (PubMed:2535845). The active GTP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. May play a role in cell division (PubMed:17635935). (Microbial infection) Deamidated at Gln-204 by Photorhabdus asymbiotica toxin PAU_02230, blocking GTP hydrolysis of heterotrimeric GNAQ or GNA11 and G-alphai (GNAI1, GNAI2 or GNAI3) proteins, thereby activating RhoA. Belongs to the G-alpha family. G(i/o/t/z) subfamily. Chemokine signaling pathway;Axon guidance;Tight junction;Gap junction;Leukocyte transendothelial migration;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Long-term depression;Progesterone-mediated oocyte maturation;Melanogenesis;Gastric acid secretion;Pertussis;Chagas disease (American trypanosomiasis);Toxoplasmosis;G alpha (i) signalling events;G alpha (s) signalling events;G-protein activation;ADP signalling through P2Y purinoceptor 12;G alpha (z) signalling events;PLC beta mediated events;Adenylate cyclase inhibitory pathway;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling PE1 1 +NX_P08758 Annexin A5 320 35937 4.94 0 Cytoplasm;Nucleus;Nucleus membrane Pregnancy loss, recurrent, 3 This protein is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade. S-nitrosylation is induced by interferon-gamma and oxidatively-modified low-densitity lipoprotein (LDL(ox)) possibly implicating the iNOS-S100A8/9 transnitrosylase complex. Belongs to the annexin family. Platelet degranulation PE1 4 +NX_P08779 Keratin, type I cytoskeletal 16 473 51268 4.98 0 NA Pachyonychia congenita 1;Keratoderma, palmoplantar, non-epidermolytic, focal 1 Epidermis-specific type I keratin that plays a key role in skin. Acts as a regulator of innate immunity in response to skin barrier breach: required for some inflammatory checkpoint for the skin barrier maintenance. NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_P08833 Insulin-like growth factor-binding protein 1 259 27904 5.11 0 Golgi apparatus;Secreted NA IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Promotes cell migration. Phosphorylated; probably by casein kinase II. Phosphorylation alters the affinity of the protein for IGFs. In amniotic fluid, the unmodified protein is the most abundant form, while mono-, bi-, tri- and tetraphosphorylated forms are present in decreasing amounts. The phosphorylation state may influence the propensity to proteolysis. NA ATF4 activates genes in response to endoplasmic reticulum stress;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 7 +NX_P08842 Steryl-sulfatase 583 65492 7.6 2 Endoplasmic reticulum membrane;Microneme membrane Ichthyosis, X-linked Catalyzes the conversion of sulfated steroid precursors, such as dehydroepiandrosterone sulfate (DHEA-S) and estrone sulfate to the free steroid. The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. Belongs to the sulfatase family. Steroid hormone biosynthesis;Glycosphingolipid metabolism;The activation of arylsulfatases PE1 X +NX_P08861 Chymotrypsin-like elastase family member 3B 270 29263 5.85 0 NA NA Efficient protease with alanine specificity but only little elastolytic activity. NA Belongs to the peptidase S1 family. Elastase subfamily. Pancreatic secretion;Protein digestion and absorption PE1 1 +NX_P08865 40S ribosomal protein SA 295 32854 4.79 0 Cytoplasm;Cytosol;Nucleus;Cell membrane Asplenia, isolated congenital (Microbial infection) Acts as a receptor for the Venezuelan equine encephalitis virus.;(Microbial infection) Acts as a receptor for the pathogenic prion protein.;Required for the assembly and/or stability of the 40S ribosomal subunit. Required for the processing of the 20S rRNA-precursor to mature 18S rRNA in a late step of the maturation of 40S ribosomal subunits. Also functions as a cell surface receptor for laminin. Plays a role in cell adhesion to the basement membrane and in the consequent activation of signaling transduction pathways. May play a role in cell fate determination and tissue morphogenesis. Acts as a PPP1R16B-dependent substrate of PPP1CA.;(Microbial infection) Acts as a receptor for the Sindbis virus.;(Microbial infection) Acts as a receptor for the Adeno-associated viruses 2,3,8 and 9.;(Microbial infection) Acts as a receptor for the Dengue virus.;(Microbial infection) Acts as a receptor for bacteria. Acylated. Acylation may be a prerequisite for conversion of the monomeric 37 kDa laminin receptor precursor (37LRP) to the mature dimeric 67 kDa laminin receptor (67LR), and may provide a mechanism for membrane association (PubMed:9581863).;Cleaved by stromelysin-3 (ST3) at the cell surface. Cleavage by stromelysin-3 may be a mechanism to alter cell-extracellular matrix interactions. Belongs to the universal ribosomal protein uS2 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 3 +NX_P08887 Interleukin-6 receptor subunit alpha 468 51548 8.56 1 Basolateral cell membrane;Secreted NA Part of the receptor for interleukin 6. Binds to IL6 with low affinity, but does not transduce a signal (PubMed:28265003). Signal activation necessitate an association with IL6ST. Activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis.;Low concentration of a soluble form of IL6 receptor acts as an agonist of IL6 activity. A short soluble form may also be released from the membrane by proteolysis. Belongs to the type I cytokine receptor family. Type 3 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Hematopoietic cell lineage;MAPK3 (ERK1) activation;Interleukin-6 signaling;MAPK1 (ERK2) activation;Interleukin-4 and Interleukin-13 signaling;Transcriptional regulation of granulopoiesis PE1 1 +NX_P08908 5-hydroxytryptamine receptor 1A 422 46107 9.13 7 Cell membrane Periodic fever, menstrual cycle-dependent G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Signaling inhibits adenylate cyclase activity and activates a phosphatidylinositol-calcium second messenger system that regulates the release of Ca(2+) ions from intracellular stores. Plays a role in the regulation of 5-hydroxytryptamine release and in the regulation of dopamine and 5-hydroxytryptamine metabolism. Plays a role in the regulation of dopamine and 5-hydroxytryptamine levels in the brain, and thereby affects neural activity, mood and behavior. Plays a role in the response to anxiogenic stimuli. NA Belongs to the G-protein coupled receptor 1 family. 5-hydroxytryptamine receptor subfamily. HTR1A sub-subfamily. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Serotonin receptors PE1 5 +NX_P08910 Monoacylglycerol lipase ABHD2 425 48315 6.24 1 Nucleoplasm;Cytosol;Cell membrane;Flagellum membrane NA Progesterone-dependent acylglycerol lipase that catalyzes hydrolysis of endocannabinoid arachidonoylglycerol (AG) from cell membrane (PubMed:26989199). Acts as a progesterone receptor: progesterone-binding activates the acylglycerol lipase activity, mediating degradation of 1-arachidonoylglycerol (1AG) and 2-arachidonoylglycerol (2AG) to glycerol and arachidonic acid (AA) (PubMed:26989199). Also displays an ester hydrolase activity against acetyl ester, butanoate ester and hexadecanoate ester (PubMed:27247428). Plays a key role in sperm capacitation in response to progesterone by mediating degradation of 2AG, an inhibitor of the sperm calcium channel CatSper, leading to calcium influx via CatSper and sperm activation (PubMed:26989199). May also play a role in smooth muscle cells migration (By similarity). NA Belongs to the AB hydrolase superfamily. AB hydrolase 4 family. NA PE1 15 +NX_P08912 Muscarinic acetylcholine receptor M5 532 60074 9.39 7 Postsynaptic cell membrane;Cell membrane NA The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover. NA Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM5 sub-subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Cholinergic synapse;Regulation of actin cytoskeleton;G alpha (q) signalling events;Muscarinic acetylcholine receptors PE1 15 +NX_P08913 Alpha-2A adrenergic receptor 450 48957 9.8 7 Cell membrane NA Alpha-2 adrenergic receptors mediate the catecholamine-induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is oxymetazoline > clonidine > epinephrine > norepinephrine > phenylephrine > dopamine > p-synephrine > p-tyramine > serotonin = p-octopamine. For antagonists, the rank order is yohimbine > phentolamine = mianserine > chlorpromazine = spiperone = prazosin > propanolol > alprenolol = pindolol. NA Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRA2A sub-subfamily. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Adrenaline,noradrenaline inhibits insulin secretion;G alpha (z) signalling events;Adrenoceptors;Adrenaline signalling through Alpha-2 adrenergic receptor;Surfactant metabolism PE1 10 +NX_P08922 Proto-oncogene tyrosine-protein kinase ROS 2347 263915 5.76 1 Cytoplasmic vesicle;Cell membrane NA Orphan receptor tyrosine kinase (RTK) that plays a role in epithelial cell differentiation and regionalization of the proximal epididymal epithelium. May activate several downstream signaling pathways related to cell differentiation, proliferation, growth and survival including the PI3 kinase-mTOR signaling pathway. Mediates the phosphorylation of PTPN11, an activator of this pathway. May also phosphorylate and activate the transcription factor STAT3 to control anchorage-independent cell growth. Mediates the phosphorylation and the activation of VAV3, a guanine nucleotide exchange factor regulating cell morphology. May activate other downstream signaling proteins including AKT1, MAPK1, MAPK3, IRS1 and PLCG2. Phosphorylated. Probably autophosphorylates. Phosphorylation at Tyr-2274 is required for the interaction with PTPN6 that mediates ROS1 dephosphorylation (By similarity). Phosphorylation at Tyr-2274 stimulates the kinase activity and the activation of the ERK1 signaling cascade (By similarity). Phosphorylation at Tyr-2274 and/or Tyr-2334 recruits PTPN11.;Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. NA PE1 6 +NX_P08949 Neuromedin-B 121 13252 11.87 0 Cell membrane;Nucleoplasm;Secreted;Cytoplasmic vesicle NA Stimulates smooth muscle contraction in a manner similar to that of bombesin. NA Belongs to the bombesin/neuromedin-B/ranatensin family. Peptide ligand-binding receptors;G alpha (q) signalling events PE1 15 +NX_P08962 CD63 antigen 238 25637 8.14 4 Extracellular exosome;Cytoplasm;Cell membrane;Multivesicular body;Lysosome membrane;Late endosome membrane;Cell surface;Melanosome;Lysosome;Cytoplasmic vesicle;Nucleus NA Functions as cell surface receptor for TIMP1 and plays a role in the activation of cellular signaling cascades. Plays a role in the activation of ITGB1 and integrin signaling, leading to the activation of AKT, FAK/PTK2 and MAP kinases. Promotes cell survival, reorganization of the actin cytoskeleton, cell adhesion, spreading and migration, via its role in the activation of AKT and FAK/PTK2. Plays a role in VEGFA signaling via its role in regulating the internalization of KDR/VEGFR2. Plays a role in intracellular vesicular transport processes, and is required for normal trafficking of the PMEL luminal domain that is essential for the development and maturation of melanocytes. Plays a role in the adhesion of leukocytes onto endothelial cells via its role in the regulation of SELP trafficking. May play a role in mast cell degranulation in response to Ms4a2/FceRI stimulation, but not in mast cell degranulation in response to other stimuli. Palmitoylated at a low, basal level in unstimulated platelets. The level of palmitoylation increases when platelets are activated by thrombin (in vitro). Belongs to the tetraspanin (TM4SF) family. Lysosome;Platelet degranulation;Neutrophil degranulation PE1 12 +NX_P08F94 Fibrocystin 4074 446702 6.12 1 Cytoplasm;Cell membrane;Cilium;Cilium basal body;Centromere;Spindle Polycystic kidney disease 4, with or without polycystic liver disease May be required for correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly. May be a receptor protein that acts in collecting-duct and biliary differentiation. NA NA NA PE1 6 +NX_P09001 39S ribosomal protein L3, mitochondrial 348 38633 9.52 0 Mitochondrion Combined oxidative phosphorylation deficiency 9 NA NA Belongs to the universal ribosomal protein uL3 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 3 +NX_P09012 U1 small nuclear ribonucleoprotein A 282 31280 9.83 0 Nucleoplasm;Nucleus NA Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. U1 snRNP is the first snRNP to interact with pre-mRNA. This interaction is required for the subsequent binding of U2 snRNP and the U4/U6/U5 tri-snRNP. SNRPA binds stem loop II of U1 snRNA. In a snRNP-free form (SF-A) may be involved in coupled pre-mRNA splicing and polyadenylation process. May bind preferentially to the 5'-UGCAC-3' motif on RNAs. NA Belongs to the RRM U1 A/B'' family. Spliceosome;mRNA Splicing - Major Pathway PE1 19 +NX_P09016 Homeobox protein Hox-D4 255 27885 9.44 0 Nucleoplasm;Cell junction;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. Deformed subfamily. Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 2 +NX_P09017 Homeobox protein Hox-C4 264 29811 9.24 0 Nucleoplasm;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. Deformed subfamily. Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 12 +NX_P09038 Fibroblast growth factor 2 288 30770 11.18 0 Nucleoplasm;Secreted;Nucleus NA Acts as a ligand for FGFR1, FGFR2, FGFR3 and FGFR4 (PubMed:8663044). Also acts as an integrin ligand which is required for FGF2 signaling (PubMed:28302677). Binds to integrin ITGAV:ITGB3 (PubMed:28302677). Plays an important role in the regulation of cell survival, cell division, cell differentiation and cell migration (PubMed:8663044, PubMed:28302677). Functions as a potent mitogen in vitro (PubMed:3732516, PubMed:3964259). Can induce angiogenesis (PubMed:23469107, PubMed:28302677). Several N-termini starting at positions 94, 125, 126, 132, 143 and 162 have been identified by direct sequencing.;Phosphorylation at Tyr-215 regulates FGF2 unconventional secretion. Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;RAF/MAP kinase cascade;FGFR2b ligand binding and activation;PI3K Cascade;PIP3 activates AKT signaling;Signaling by activated point mutants of FGFR1;Signaling by activated point mutants of FGFR3;FGFR4 ligand binding and activation;FGFR3c ligand binding and activation;FGFR1c ligand binding and activation;FGFR2c ligand binding and activation;FGFR3 mutant receptor activation;Activated point mutants of FGFR2;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade: FGFR1;Phospholipase C-mediated cascade, FGFR2;Phospholipase C-mediated cascade, FGFR3;Phospholipase C-mediated cascade, FGFR4;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;SHC-mediated cascade:FGFR3;FRS-mediated FGFR3 signaling;PI-3K cascade:FGFR3;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;PI-3K cascade:FGFR4;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation;Syndecan interactions;Non-integrin membrane-ECM interactions;FGFR1b ligand binding and activation;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Downstream signaling of activated FGFR1;FGFRL1 modulation of FGFR1 signaling;Signaling by FGFR3 point mutants in cancer;Signaling by FGFR2 IIIa TM;Interleukin-4 and Interleukin-13 signaling PE1 4 +NX_P09067 Homeobox protein Hox-B5 269 29434 9.1 0 Nucleoplasm;Nucleolus;Cytosol;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. NA PE1 17 +NX_P09086 POU domain, class 2, transcription factor 2 479 51209 8.6 0 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Nucleus NA Transcription factor that specifically binds to the octamer motif (5'-ATTTGCAT-3'). Regulates transcription in a number of tissues in addition to activating immunoglobulin gene expression. Modulates transcription transactivation by NR3C1, AR and PGR.;Activates the U2 small nuclear RNA (snRNA) promoter. NA Belongs to the POU transcription factor family. Class-2 subfamily. RNA polymerase II transcribes snRNA genes PE1 19 +NX_P09093 Chymotrypsin-like elastase family member 3A 270 29489 6.43 0 NA NA Efficient protease with alanine specificity but only little elastolytic activity. NA Belongs to the peptidase S1 family. Elastase subfamily. Pancreatic secretion;Protein digestion and absorption PE1 1 +NX_P09104 Gamma-enolase 434 47269 4.91 0 Cytoplasm;Cell membrane NA Has neurotrophic and neuroprotective properties on a broad spectrum of central nervous system (CNS) neurons. Binds, in a calcium-dependent manner, to cultured neocortical neurons and promotes cell survival (By similarity). NA Belongs to the enolase family. Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 4/5.;Glycolysis / Gluconeogenesis;Metabolic pathways;RNA degradation;Glycolysis;Gluconeogenesis PE1 12 +NX_P09105 Hemoglobin subunit theta-1 142 15508 7.09 0 Lipid droplet NA NA NA Belongs to the globin family. NA PE1 16 +NX_P09110 3-ketoacyl-CoA thiolase, peroxisomal 424 44292 8.76 0 Peroxisome NA NA NA Belongs to the thiolase-like superfamily. Thiolase family. Lipid metabolism; fatty acid metabolism.;Fatty acid metabolism;Valine, leucine and isoleucine degradation;Biosynthesis of unsaturated fatty acids;Metabolic pathways;PPAR signaling pathway;Peroxisome;alpha-linolenic acid (ALA) metabolism;Beta-oxidation of very long chain fatty acids;Neutrophil degranulation;Peroxisomal protein import;TYSND1 cleaves peroxisomal proteins PE1 3 +NX_P09131 P3 protein 477 50333 7.65 8 Membrane;Endoplasmic reticulum;Cytoskeleton NA The ubiquitous expression and the conservation of the sequence in distant animal species suggest that the gene codes for a protein with housekeeping functions. NA Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. NA PE1 X +NX_P09132 Signal recognition particle 19 kDa protein 144 16156 9.87 0 Cytoplasm NA Signal-recognition-particle assembly, binds directly to 7S RNA and mediates binding of the 54 kDa subunit of the SRP. NA Belongs to the SRP19 family. Protein export;SRP-dependent cotranslational protein targeting to membrane PE1 5 +NX_P09172 Dopamine beta-hydroxylase 617 69065 5.97 1 Chromaffin granule membrane;Secretory vesicle lumen;Secreted;Endoplasmic reticulum;Secretory vesicle membrane;Chromaffin granule lumen;Cytoplasmic vesicle Orthostatic hypotension 1 Conversion of dopamine to noradrenaline. N-glycosylated.;Proteolytic cleavage after the membrane-anchor leads to the release of the soluble form. Belongs to the copper type II ascorbate-dependent monooxygenase family. Catecholamine biosynthesis; (R)-noradrenaline biosynthesis; (R)-noradrenaline from dopamine: step 1/1.;Tyrosine metabolism;Metabolic pathways;Catecholamine biosynthesis PE1 9 +NX_P09210 Glutathione S-transferase A2 222 25664 8.51 0 Cytoplasm NA Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. NA Belongs to the GST superfamily. Alpha family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Glutathione conjugation;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 6 +NX_P09211 Glutathione S-transferase P 210 23356 5.43 0 Cytoplasm;Cytosol;Mitochondrion;Nucleus NA Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Regulates negatively CDK5 activity via p25/p35 translocation to prevent neurodegeneration. NA Belongs to the GST superfamily. Pi family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Pathways in cancer;Prostate cancer;Detoxification of Reactive Oxygen Species;Glutathione conjugation;Neutrophil degranulation PE1 11 +NX_P09228 Cystatin-SA 141 16445 4.85 0 Secreted NA Thiol protease inhibitor. NA Belongs to the cystatin family. Salivary secretion PE1 20 +NX_P09234 U1 small nuclear ribonucleoprotein C 159 17394 9.72 0 Nucleus NA Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. SNRPC/U1-C is directly involved in initial 5' splice-site recognition for both constitutive and regulated alternative splicing. The interaction with the 5' splice-site seems to precede base-pairing between the pre-mRNA and the U1 snRNA. Stimulates commitment or early (E) complex formation by stabilizing the base pairing of the 5' end of the U1 snRNA and the 5' splice-site region. NA Belongs to the U1 small nuclear ribonucleoprotein C family. Spliceosome;mRNA Splicing - Major Pathway PE1 6 +NX_P09237 Matrilysin 267 29677 7.73 0 Cytoplasmic vesicle;Nucleoplasm;Extracellular matrix NA Degrades casein, gelatins of types I, III, IV, and V, and fibronectin. Activates procollagenase. NA Belongs to the peptidase M10A family. Wnt signaling pathway;Degradation of the extracellular matrix;Collagen degradation;Assembly of collagen fibrils and other multimeric structures;Activation of Matrix Metalloproteinases;Extra-nuclear estrogen signaling PE1 11 +NX_P09238 Stromelysin-2 476 54151 5.49 0 Cytosol;Extracellular matrix;Cell membrane NA Can degrade fibronectin, gelatins of type I, III, IV, and V; weakly collagens III, IV, and V. Activates procollagenase. NA Belongs to the peptidase M10A family. Degradation of the extracellular matrix;Collagen degradation;Activation of Matrix Metalloproteinases PE1 11 +NX_P09326 CD48 antigen 243 27683 8.34 0 Cytosol;Nucleolus;Cell membrane NA Ligand for CD2. Might facilitate interaction between activated lymphocytes. Probably involved in regulating T-cell activation. NA NA Natural killer cell mediated cytotoxicity;Cell surface interactions at the vascular wall PE1 1 +NX_P09327 Villin-1 827 92695 5.99 0 Filopodium tip;Cell membrane;Lamellipodium;Filopodium;Ruffle;Microvillus;Cytoskeleton NA Epithelial cell-specific Ca(2+)-regulated actin-modifying protein that modulates the reorganization of microvillar actin filaments. Plays a role in the actin nucleation, actin filament bundle assembly, actin filament capping and severing. Binds phosphatidylinositol 4,5-bisphosphate (PIP2) and lysophosphatidic acid (LPA); binds LPA with higher affinity than PIP2. Binding to LPA increases its phosphorylation by SRC and inhibits all actin-modifying activities. Binding to PIP2 inhibits actin-capping and -severing activities but enhances actin-bundling activity. Regulates the intestinal epithelial cell morphology, cell invasion, cell migration and apoptosis. Protects against apoptosis induced by dextran sodium sulfate (DSS) in the gastrointestinal epithelium. Appears to regulate cell death by maintaining mitochondrial integrity. Enhances hepatocyte growth factor (HGF)-induced epithelial cell motility, chemotaxis and wound repair. Upon S.flexneri cell infection, its actin-severing activity enhances actin-based motility of the bacteria and plays a role during the dissemination. Tyrosine phosphorylation is induced by epidermal growth factor (EGF) and stimulates cell migration (By similarity). Phosphorylated on tyrosine residues by SRC. The unphosphorylated form increases the initial rate of actin-nucleating activity, whereas the tyrosine-phosphorylated form inhibits actin-nucleating activity, enhances actin-bundling activity and enhances actin-severing activity by reducing high Ca(2+) requirements. The tyrosine-phosphorylated form does not regulate actin-capping activity. Tyrosine phosphorylation is essential for cell migration: tyrosine phosphorylation sites in the N-terminus half regulate actin reorganization and cell morphology, whereas tyrosine phosphorylation sites in the C-terminus half regulate cell migration via interaction with PLCG1.;VIL1 is phosphorylated by YES1 (Phosphotyrosine:PTM-0255);VIL1 is phosphorylated by FYN (Phosphotyrosine:PTM-0255);VIL1 is phosphorylated by JAK3 Belongs to the villin/gelsolin family. NA PE1 2 +NX_P09341 Growth-regulated alpha protein 107 11301 10.46 0 Secreted NA Has chemotactic activity for neutrophils. May play a role in inflammation and exerts its effects on endothelial cells in an autocrine fashion. In vitro, the processed forms GRO-alpha(4-73), GRO-alpha(5-73) and GRO-alpha(6-73) show a 30-fold higher chemotactic activity. N-terminal processed forms GRO-alpha(4-73), GRO-alpha(5-73) and GRO-alpha(6-73) are produced by proteolytic cleavage after secretion from peripheral blood monocytes. Belongs to the intercrine alpha (chemokine CxC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;NOD-like receptor signaling pathway;Epithelial cell signaling in Helicobacter pylori infection;Salmonella infection;Legionellosis;Amoebiasis;Rheumatoid arthritis;G alpha (i) signalling events;Chemokine receptors bind chemokines;Neutrophil degranulation;Interleukin-10 signaling PE1 4 +NX_P09382 Galectin-1 135 14716 5.33 0 Cytoplasm;Extracellular matrix;Nucleoplasm;Cytosol;Nucleus NA Lectin that binds beta-galactoside and a wide array of complex carbohydrates. Plays a role in regulating apoptosis, cell proliferation and cell differentiation. Inhibits CD45 protein phosphatase activity and therefore the dephosphorylation of Lyn kinase. Strong inducer of T-cell apoptosis. NA NA Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 22 +NX_P09417 Dihydropteridine reductase 244 25790 6.9 0 Mitochondrion Hyperphenylalaninemia, BH4-deficient, C The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Folate biosynthesis;Metabolic pathways;Phenylalanine metabolism PE1 4 +NX_P09429 High mobility group protein B1 215 24894 5.62 0 Cytoplasm;Endoplasmic reticulum-Golgi intermediate compartment;Cell membrane;Secreted;Chromosome;Nucleoplasm;Endosome;Nucleus NA Multifunctional redox sensitive protein with various roles in different cellular compartments. In the nucleus is one of the major chromatin-associated non-histone proteins and acts as a DNA chaperone involved in replication, transcription, chromatin remodeling, V(D)J recombination, DNA repair and genome stability. Proposed to be an universal biosensor for nucleic acids. Promotes host inflammatory response to sterile and infectious signals and is involved in the coordination and integration of innate and adaptive immune responses. In the cytoplasm functions as sensor and/or chaperone for immunogenic nucleic acids implicating the activation of TLR9-mediated immune responses, and mediates autophagy. Acts as danger associated molecular pattern (DAMP) molecule that amplifies immune responses during tissue injury (PubMed:27362237). Released to the extracellular environment can bind DNA, nucleosomes, IL-1 beta, CXCL12, AGER isoform 2/sRAGE, lipopolysaccharide (LPS) and lipoteichoic acid (LTA), and activates cells through engagement of multiple surface receptors. In the extracellular compartment fully reduced HMGB1 (released by necrosis) acts as a chemokine, disulfide HMGB1 (actively secreted) as a cytokine, and sulfonyl HMGB1 (released from apoptotic cells) promotes immunological tolerance (PubMed:23519706, PubMed:23446148, PubMed:23994764, PubMed:25048472). Has proangiogdenic activity (By similarity). May be involved in platelet activation (By similarity). Binds to phosphatidylserine and phosphatidylethanolamide (By similarity). Bound to RAGE mediates signaling for neuronal outgrowth (By similarity). May play a role in accumulation of expanded polyglutamine (polyQ) proteins such as huntingtin (HTT) or TBP (PubMed:23303669, PubMed:25549101).;In the extracellular compartment (following either active secretion or passive release) involved in regulation of the inflammatory response. Fully reduced HGMB1 (which subsequently gets oxidized after release) in association with CXCL12 mediates the recruitment of inflammatory cells during the initial phase of tissue injury; the CXCL12:HMGB1 complex triggers CXCR4 homodimerization (PubMed:22370717). Induces the migration of monocyte-derived immature dendritic cells and seems to regulate adhesive and migratory functions of neutrophils implicating AGER/RAGE and ITGAM (By similarity). Can bind to various types of DNA and RNA including microbial unmethylated CpG-DNA to enhance the innate immune response to nucleic acids. Proposed to act in promiscuous DNA/RNA sensing which cooperates with subsequent discriminative sensing by specific pattern recognition receptors (By similarity). Promotes extracellular DNA-induced AIM2 inflammasome activation implicating AGER/RAGE (PubMed:24971542). Disulfide HMGB1 binds to transmembrane receptors, such as AGER/RAGE, TLR2, TLR4 and probably TREM1, thus activating their signal transduction pathways. Mediates the release of cytokines/chemokines such as TNF, IL-1, IL-6, IL-8, CCL2, CCL3, CCL4 and CXCL10 (PubMed:12765338, PubMed:18354232, PubMed:19264983, PubMed:20547845, PubMed:24474694). Promotes secretion of interferon-gamma by macrophage-stimulated natural killer (NK) cells in concert with other cytokines like IL-2 or IL-12 (PubMed:15607795). TLR4 is proposed to be the primary receptor promoting macrophage activation and signaling through TLR4 seems to implicate LY96/MD-2 (PubMed:20547845). In bacterial LPS- or LTA-mediated inflammatory responses binds to the endotoxins and transfers them to CD14 for signaling to the respective TLR4:LY96 and TLR2 complexes (PubMed:18354232, PubMed:21660935, PubMed:25660311). Contributes to tumor proliferation by association with ACER/RAGE (By similarity). Can bind to IL1-beta and signals through the IL1R1:IL1RAP receptor complex (PubMed:18250463). Binding to class A CpG activates cytokine production in plasmacytoid dendritic cells implicating TLR9, MYD88 and AGER/RAGE and can activate autoreactive B cells. Via HMGB1-containing chromatin immune complexes may also promote B cell responses to endogenous TLR9 ligands through a B-cell receptor (BCR)-dependent and ACER/RAGE-independent mechanism (By similarity). Inhibits phagocytosis of apoptotic cells by macrophages; the function is dependent on poly-ADP-ribosylation and involves binding to phosphatidylserine on the cell surface of apoptotic cells (By similarity). In adaptive immunity may be involved in enhancing immunity through activation of effector T cells and suppression of regulatory T (TReg) cells (PubMed:15944249, PubMed:22473704). In contrast, without implicating effector or regulatory T-cells, required for tumor infiltration and activation of T-cells expressing the lymphotoxin LTA:LTB heterotrimer thus promoting tumor malignant progression (By similarity). Also reported to limit proliferation of T-cells (By similarity). Released HMGB1:nucleosome complexes formed during apoptosis can signal through TLR2 to induce cytokine production (PubMed:19064698). Involved in induction of immunological tolerance by apoptotic cells; its pro-inflammatory activities when released by apoptotic cells are neutralized by reactive oxygen species (ROS)-dependent oxidation specifically on Cys-106 (PubMed:18631454). During macrophage activation by activated lymphocyte-derived self apoptotic DNA (ALD-DNA) promotes recruitment of ALD-DNA to endosomes (By similarity).;In the cytoplasm proposed to dissociate the BECN1:BCL2 complex via competitive interaction with BECN1 leading to autophagy activation (PubMed:20819940). Involved in oxidative stress-mediated autophagy (PubMed:21395369). Can protect BECN1 and ATG5 from calpain-mediated cleavage and thus proposed to control their proautophagic and proapoptotic functions and to regulate the extent and severity of inflammation-associated cellular injury (By similarity). In myeloid cells has a protective role against endotoxemia and bacterial infection by promoting autophagy (By similarity). Involved in endosomal translocation and activation of TLR9 in response to CpG-DNA in macrophages (By similarity).;Nuclear functions are attributed to fully reduced HGMB1. Associates with chromatin and binds DNA with a preference to non-canonical DNA structures such as single-stranded DNA, DNA-containing cruciforms or bent structures, supercoiled DNA and ZDNA. Can bent DNA and enhance DNA flexibility by looping thus providing a mechanism to promote activities on various gene promoters by enhancing transcription factor binding and/or bringing distant regulatory sequences into close proximity (PubMed:20123072). May have an enhancing role in nucleotide excision repair (NER) (By similarity). However, effects in NER using in vitro systems have been reported conflictingly (PubMed:19446504, PubMed:19360789). May be involved in mismatch repair (MMR) and base excision repair (BER) pathways (PubMed:15014079, PubMed:16143102, PubMed:17803946). May be involved in double strand break repair such as non-homologous end joining (NHEJ) (By similarity). Involved in V(D)J recombination by acting as a cofactor of the RAG complex: acts by stimulating cleavage and RAG protein binding at the 23 bp spacer of conserved recombination signal sequences (RSS) (By similarity). In vitro can displace histone H1 from highly bent DNA (By similarity). Can restructure the canonical nucleosome leading to relaxation of structural constraints for transcription factor-binding (By similarity). Enhances binding of sterol regulatory element-binding proteins (SREBPs) such as SREBF1 to their cognate DNA sequences and increases their transcriptional activities (By similarity). Facilitates binding of TP53 to DNA (PubMed:23063560). Proposed to be involved in mitochondrial quality control and autophagy in a transcription-dependent fashion implicating HSPB1; however, this function has been questioned (By similarity). Can modulate the activity of the telomerase complex and may be involved in telomere maintenance (By similarity). Poly-ADP-ribosylated by PARP1 when secreted following stimulation with LPS (By similarity).;Acetylated on multiple sites upon stimulation with LPS (PubMed:22801494). Acetylation on lysine residues in the nuclear localization signals (NLS 1 and NLS 2) leads to cytoplasmic localization and subsequent secretion (By similarity). Acetylation on Lys-3 results in preferential binding to DNA ends and impairs DNA bending activity (By similarity).;Phosphorylated at serine residues. Phosphorylation in both NLS regions is required for cytoplasmic translocation followed by secretion (PubMed:17114460).;In vitro cleavage by CASP1 is liberating a HMG box 1-containing peptide which may mediate immunogenic activity; the peptide antagonizes apoptosis-induced immune tolerance (PubMed:24474694). Can be proteolytically cleaved by a thrombin:thrombomodulin complex; reduces binding to heparin and proinflammatory activities (By similarity).;Reduction/oxidation of cysteine residues Cys-23, Cys-45 and Cys-106 and a possible intramolecular disulfide bond involving Cys-23 and Cys-45 give rise to different redox forms with specific functional activities in various cellular compartments: 1- fully reduced HMGB1 (HMGB1C23hC45hC106h), 2- disulfide HMGB1 (HMGB1C23-C45C106h) and 3- sulfonyl HMGB1 (HMGB1C23soC45soC106so). Belongs to the HMGB family. Base excision repair;Advanced glycosylation endproduct receptor signaling;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated NF-kB activation;Regulation of TLR by endogenous ligand;Neutrophil degranulation;Apoptosis induced DNA fragmentation PE1 13 +NX_P09430 Spermatid nuclear transition protein 1 55 6424 12.09 0 Nucleus;Chromosome NA Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals. In condensing spermatids, loaded onto the nucleosomes, where it promotes the recruitment and processing of protamines, which are responsible for histone eviction. NA Belongs to the nuclear transition protein 1 family. NA PE1 2 +NX_P09455 Retinol-binding protein 1 135 15850 4.99 0 Cytoplasm;Nucleoplasm;Lipid droplet;Cytosol NA Cytoplasmic retinol-binding protein (PubMed:22665496, PubMed:26900151, PubMed:28057518). Accepts retinol from the transport protein STRA6, and thereby contributes to retinol uptake, storage and retinoid homeostasis (PubMed:15632377, PubMed:22665496). NA Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. The canonical retinoid cycle in rods (twilight vision);Retinoid metabolism and transport;Retinoid cycle disease events PE1 3 +NX_P09466 Glycodelin 180 20624 5.36 0 Secreted NA Glycoprotein that regulates critical steps during fertilization and also has immunomonomodulatory effects. Four glycoforms, namely glycodelin-S, -A, -F and -C have been identified in reproductive tissues that differ in glycosylation and biological activity. Glycodelin-A has contraceptive and immunosuppressive activities (PubMed:9918684, PubMed:7531163). Glycodelin-C stimulates binding of spermatozoa to the zona pellucida (PubMed:17192260). Glycodelin-F inhibits spermatozoa-zona pellucida binding and significantly suppresses progesterone-induced acrosome reaction of spermatozoa (PubMed:12672671). Glycodelin-S in seminal plasma maintains the uncapacitated state of human spermatozoa (PubMed:15883155). Four distinct glycoforms A, C, F and S arise from different N-linked oligosaccharide chains at amino acid residues Asn-46 and Asn-81. Glycodelin-A and -F are taken up by the cumulus cells in which partial deglycosylation takes place to produce glycodelin-C. Belongs to the calycin superfamily. Lipocalin family. NA PE1 9 +NX_P09467 Fructose-1,6-bisphosphatase 1 338 36842 6.54 0 Mitochondrion Fructose-1,6-bisphosphatase deficiency Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations, acting as a rate-limiting enzyme in gluconeogenesis. Plays a role in regulating glucose sensing and insulin secretion of pancreatic beta-cells. Appears to modulate glycerol gluconeogenesis in liver. Important regulator of appetite and adiposity; increased expression of the protein in liver after nutrient excess increases circulating satiety hormones and reduces appetite-stimulating neuropeptides and thus seems to provide a feedback mechanism to limit weight gain. NA Belongs to the FBPase class 1 family. Carbohydrate biosynthesis; gluconeogenesis.;Glycolysis / Gluconeogenesis;Pentose phosphate pathway;Fructose and mannose metabolism;Metabolic pathways;Insulin signaling pathway;Gluconeogenesis PE1 9 +NX_P09471 Guanine nucleotide-binding protein G(o) subunit alpha 354 40051 5.34 0 Membrane;Cell membrane Epileptic encephalopathy, early infantile, 17;Neurodevelopmental disorder with involuntary movements Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(o) protein function is not clear. Stimulated by RGS14. NA Belongs to the G-alpha family. G(i/o/t/z) subfamily. Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Long-term depression;Melanogenesis;Chagas disease (American trypanosomiasis);Toxoplasmosis;G-protein activation;Ca2+ pathway;PLC beta mediated events;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding PE1 16 +NX_P09486 SPARC 303 34632 4.73 0 Cytoplasmic vesicle;Basement membrane Osteogenesis imperfecta 17 Appears to regulate cell growth through interactions with the extracellular matrix and cytokines. Binds calcium and copper, several types of collagen, albumin, thrombospondin, PDGF and cell membranes. There are two calcium binding sites; an acidic domain that binds 5 to 8 Ca(2+) with a low affinity and an EF-hand loop that binds a Ca(2+) ion with a high affinity. NA Belongs to the SPARC family. Nuclear signaling by ERBB4;Platelet degranulation;ECM proteoglycans;Scavenging by Class H Receptors PE1 5 +NX_P09488 Glutathione S-transferase Mu 1 218 25712 6.24 0 Cytoplasm NA Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. NA Belongs to the GST superfamily. Mu family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Glutathione conjugation PE1 1 +NX_P09493 Tropomyosin alpha-1 chain 284 32709 4.69 0 Cytoplasm;Cytoskeleton Cardiomyopathy, familial hypertrophic 3;Cardiomyopathy, dilated 1Y;Left ventricular non-compaction 9 Binds to actin filaments in muscle and non-muscle cells (PubMed:23170982). Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction (PubMed:23170982). Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. Phosphorylated at Ser-283 by DAPK1 in response to oxidative stress and this phosphorylation enhances stress fiber formation in endothelial cells.;TPM1 is phosphorylated by PRKCZ (Phosphoserine:PTM-0253) Belongs to the tropomyosin family. Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;Striated Muscle Contraction;Smooth Muscle Contraction PE1 15 +NX_P09496 Clathrin light chain A 248 27077 4.43 0 Coated pit;Cytoplasmic vesicle membrane;Endosome;Lysosome;Cytoplasmic vesicle;Spindle NA Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (PubMed:15858577, PubMed:21297582). NA Belongs to the clathrin light chain family. Lysosome;Endocytosis;Synaptic vesicle cycle;Endocrine and other factor-regulated calcium reabsorption;Huntington's disease;Bacterial invasion of epithelial cells;MHC class II antigen presentation;EPH-ephrin mediated repulsion of cells;Golgi Associated Vesicle Biogenesis;Retrograde neurotrophin signalling;Lysosome Vesicle Biogenesis;Recycling pathway of L1;Gap junction degradation;WNT5A-dependent internalization of FZD4;Formation of annular gap junctions;WNT5A-dependent internalization of FZD2, FZD5 and ROR2;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;VLDLR internalisation and degradation;Entry of Influenza Virion into Host Cell via Endocytosis;LDL clearance PE1 9 +NX_P09497 Clathrin light chain B 229 25190 4.57 0 Cell membrane;Coated pit;Cytoplasmic vesicle membrane;Cytoplasmic vesicle;Cytosol NA Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. NA Belongs to the clathrin light chain family. Lysosome;Endocytosis;Synaptic vesicle cycle;Endocrine and other factor-regulated calcium reabsorption;Huntington's disease;Bacterial invasion of epithelial cells;EPH-ephrin mediated repulsion of cells;Lysosome Vesicle Biogenesis;Gap junction degradation;WNT5A-dependent internalization of FZD4;Formation of annular gap junctions;WNT5A-dependent internalization of FZD2, FZD5 and ROR2;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 5 +NX_P09525 Annexin A4 319 35883 5.84 0 Cytosol NA Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis. NA Belongs to the annexin family. NA PE1 2 +NX_P09529 Inhibin beta B chain 407 45122 8.35 0 Secreted NA Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins. NA Belongs to the TGF-beta family. Cytokine-cytokine receptor interaction;TGF-beta signaling pathway;Glycoprotein hormones;Signaling by Activin;Antagonism of Activin by Follistatin PE1 2 +NX_P09543 2',3'-cyclic-nucleotide 3'-phosphodiesterase 421 47579 9.17 0 Membrane;Nucleoplasm;Cytosol;Melanosome NA May participate in RNA metabolism in the myelinating cell, CNP is the third most abundant protein in central nervous system myelin. NA Belongs to the 2H phosphoesterase superfamily. CNPase family. NA PE1 17 +NX_P09544 Protein Wnt-2 360 40418 9.06 0 Cytoplasmic vesicle;Extracellular matrix;Secreted NA Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (PubMed:20018874). Functions as upstream regulator of FGF10 expression. Plays an important role in embryonic lung development. May contribute to embryonic brain development by regulating the proliferation of dopaminergic precursors and neurons (By similarity). Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Belongs to the Wnt family. Wnt signaling pathway;Hedgehog signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors) PE1 7 +NX_P09564 T-cell antigen CD7 240 25409 6.87 1 Membrane NA Not yet known. NA NA Hematopoietic cell lineage PE1 17 +NX_P09565 Putative insulin-like growth factor 2-associated protein 113 12087 9.65 0 NA NA NA NA NA NA PE1 11 +NX_P09601 Heme oxygenase 1 288 32819 7.89 0 Golgi apparatus;Endoplasmic reticulum membrane;Microsome;Cell membrane Heme oxygenase 1 deficiency Heme oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase. Under physiological conditions, the activity of heme oxygenase is highest in the spleen, where senescent erythrocytes are sequestrated and destroyed. Exhibits cytoprotective effects since excess of free heme sensitizes cells to undergo apoptosis. NA Belongs to the heme oxygenase family. Porphyrin and chlorophyll metabolism;Mineral absorption;Iron uptake and transport;Heme degradation;Interleukin-4 and Interleukin-13 signaling;Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 22 +NX_P09603 Macrophage colony-stimulating factor 1 554 60179 5.16 1 Extracellular space;Nucleus;Cell membrane NA Cytokine that plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of proinflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone development. Required for normal male and female fertility. Promotes reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell migration. Plays a role in lipoprotein clearance. Is only N-glycosylated.;Is N- and O-glycosylated.;N- and O-glycosylated. Glycosylation and proteolytic cleavage yield different soluble forms. One high molecular weight soluble form is a proteoglycan containing chondroitin sulfate. O-glycosylated with core 1 or possibly core 8 glycans. NA Cytokine-cytokine receptor interaction;Osteoclast differentiation;Hematopoietic cell lineage;Rheumatoid arthritis;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Interleukin-10 signaling;Post-translational protein phosphorylation;Other interleukin signaling PE1 1 +NX_P09619 Platelet-derived growth factor receptor beta 1106 123968 4.88 1 Golgi apparatus;Cytoplasmic vesicle;Lysosome lumen;Cell membrane Basal ganglia calcification, idiopathic, 4;Leukemia, juvenile myelomonocytic;Kosaki overgrowth syndrome;Myofibromatosis, infantile 1;Myeloproliferative disorder chronic with eosinophilia;Premature aging syndrome, Penttinen type;Leukemia, acute myelogenous Tyrosine-protein kinase that acts as cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth muscle cells and the formation of neointima at vascular injury sites. Required for normal development of the cardiovascular system. Required for normal recruitment of pericytes (mesangial cells) in the kidney glomerulus, and for normal formation of a branched network of capillaries in kidney glomeruli. Promotes rearrangement of the actin cytoskeleton and the formation of membrane ruffles. Binding of its cognate ligands - homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFD -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PLCG1, PIK3R1, PTPN11, RASA1/GAP, CBL, SHC1 and NCK1. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to the activation of the AKT1 signaling pathway. Phosphorylation of SHC1, or of the C-terminus of PTPN11, creates a binding site for GRB2, resulting in the activation of HRAS, RAF1 and down-stream MAP kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation and activation of SRC family kinases. Promotes phosphorylation of PDCD6IP/ALIX and STAM. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor. N-glycosylated.;Ubiquitinated. After autophosphorylation, the receptor is polyubiquitinated, leading to its degradation.;Autophosphorylated on tyrosine residues upon ligand binding. Autophosphorylation occurs in trans, i.e. One subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-579, and to a lesser degree, at Tyr-581, is important for interaction with SRC family kinases. Phosphorylation at Tyr-740 and Tyr-751 is important for interaction with PIK3R1. Phosphorylation at Tyr-751 is important for interaction with NCK1. Phosphorylation at Tyr-771 and Tyr-857 is important for interaction with RASA1/GAP. Phosphorylation at Tyr-857 is important for efficient phosphorylation of PLCG1 and PTPN11, resulting in increased phosphorylation of AKT1, MAPK1/ERK2 and/or MAPK3/ERK1, PDCD6IP/ALIX and STAM, and in increased cell proliferation. Phosphorylation at Tyr-1009 is important for interaction with PTPN11. Phosphorylation at Tyr-1009 and Tyr-1021 is important for interaction with PLCG1. Phosphorylation at Tyr-1021 is important for interaction with CBL; PLCG1 and CBL compete for the same binding site. Dephosphorylated by PTPRJ at Tyr-751, Tyr-857, Tyr-1009 and Tyr-1021. Dephosphorylated by PTPN2 at Tyr-579 and Tyr-1021.;PDGFRB is phosphorylated by GRK5 (Phosphoserine,Phosphotyrosine:PTM-0253,PTM-0255);PDGFRB is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255);PDGFRB is phosphorylated by ABL2 (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. MAPK signaling pathway;Calcium signaling pathway;Cytokine-cytokine receptor interaction;Focal adhesion;Gap junction;Regulation of actin cytoskeleton;HTLV-I infection;Pathways in cancer;Glioma;Prostate cancer;Melanoma;RAF/MAP kinase cascade;Signaling by PDGF;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Downstream signal transduction;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 5 +NX_P09622 Dihydrolipoyl dehydrogenase, mitochondrial 509 54177 7.95 0 Mitochondrion;Mitochondrion matrix;Flagellum;Nucleus;Acrosome Dihydrolipoamide dehydrogenase deficiency Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex) (PubMed:15712224, PubMed:16442803, PubMed:16770810, PubMed:17404228, PubMed:20160912, PubMed:20385101). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711). In monomeric form may have additional moonlighting function as serine protease (PubMed:17404228). Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction (By similarity). Tyrosine phosphorylated. Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. Glycolysis / Gluconeogenesis;Citrate cycle (TCA cycle);Glycine, serine and threonine metabolism;Valine, leucine and isoleucine degradation;Pyruvate metabolism;Metabolic pathways;Branched-chain amino acid catabolism;Citric acid cycle (TCA cycle);Signaling by Retinoic Acid;Regulation of pyruvate dehydrogenase (PDH) complex;Pyruvate metabolism;Lysine catabolism;Glyoxylate metabolism and glycine degradation;Glycine degradation PE1 7 +NX_P09629 Homeobox protein Hox-B7 217 24015 8.83 0 Nucleoplasm;Cytosol;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. NA PE1 17 +NX_P09630 Homeobox protein Hox-C6 235 26915 9.18 0 Nucleoplasm;Cytosol;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. NA PE1 12 +NX_P09651 Heterogeneous nuclear ribonucleoprotein A1 372 38747 9.17 0 Cytoplasm;Nucleus Amyotrophic lateral sclerosis 20;Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and may modulate splice site selection (PubMed:17371836). May bind to specific miRNA hairpins (PubMed:28431233).;(Microbial infection) May play a role in HCV RNA replication. Sumoylated.;Arg-194, Arg-206 and Arg-225 are dimethylated, probably to asymmetric dimethylarginine.;HNRNPA1 is phosphorylated by MKNK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Spliceosome;mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA;FGFR2 alternative splicing PE1 12 +NX_P09661 U2 small nuclear ribonucleoprotein A' 255 28416 8.71 0 Nucleoplasm;Nucleus speckle;Nucleus NA Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:27035939). Associated with sn-RNP U2, where it contributes to the binding of stem loop IV of U2 snRNA (PubMed:9716128, PubMed:27035939). NA Belongs to the U2 small nuclear ribonucleoprotein A family. Spliceosome;mRNA Splicing - Major Pathway;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 15 +NX_P09668 Pro-cathepsin H 335 37394 8.35 0 Cytoplasmic vesicle;Cytosol;Lysosome NA Important for the overall degradation of proteins in lysosomes. NA Belongs to the peptidase C1 family. Lysosome;MHC class II antigen presentation;Surfactant metabolism;Neutrophil degranulation PE1 15 +NX_P09669 Cytochrome c oxidase subunit 6C 75 8781 10.38 1 Mitochondrion inner membrane;Mitochondrion NA This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. NA Belongs to the cytochrome c oxidase subunit 6c family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 8 +NX_P09681 Gastric inhibitory polypeptide 153 17108 7.8 0 Secreted NA Potent stimulator of insulin secretion and relatively poor inhibitor of gastric acid secretion. NA Belongs to the glucagon family. G alpha (s) signalling events;Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP);Glucagon-type ligand receptors PE1 17 +NX_P09683 Secretin 121 13016 11.27 0 Secreted NA Hormone involved in different processes, such as regulation of the pH of the duodenal content, food intake and water homeostasis (PubMed:25332973). Exerts its biological effects by binding to secretin receptor (SCTR), a G-protein coupled receptor expressed in the basolateral domain of several cells (PubMed:25332973). Acts as a key gastrointestinal hormone by regulating the pH of the duodenal content (By similarity). Secreted by S cells of the duodenum in the crypts of Lieberkuehn and regulates the pH of the duodenum by (1) inhibiting the secretion of gastric acid from the parietal cells of the stomach and (2) stimulating the production of bicarbonate (NaHCO(3)) from the ductal cells of the pancreas (By similarity). Production of bicarbonate is essential to neutralize the pH and ensure no damage is done to the small intestine by the gastric acid (By similarity). In addition to regulating the pH of the duodenal content, plays a central role in diet induced thermogenesis: acts as a non-sympathetic brown fat (BAT) activator mediating prandial thermogenesis, which consequentially induces satiation (Probable). Mechanistically, secretin released by the gut after a meal binds to secretin receptor (SCTR) in brown adipocytes, activating brown fat thermogenesis by stimulating lipolysis, which is sensed in the brain and promotes satiation (By similarity). Also able to stimulate lipolysis in white adipocytes (By similarity). Also plays an important role in cellular osmoregulation: released into the systemic circulation in response to hyperosmolality and acts at different levels in the hypothalamus, pituitary and kidney to regulate water homeostasis (By similarity). Also plays a role in the central nervous system, possibly by acting as a neuropeptide hormone: required for hippocampal synaptic function and neural progenitor cells maintenance (By similarity). NA Belongs to the glucagon family. G alpha (s) signalling events;Glucagon-type ligand receptors PE1 11 +NX_P09693 T-cell surface glycoprotein CD3 gamma chain 182 20469 8.6 1 Cytosol;Cell membrane Immunodeficiency 17 Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098). In addition to this role of signal transduction in T-cell activation, CD3G plays an essential role in the dynamic regulation of TCR expression at the cell surface (PubMed:8187769). Indeed, constitutive TCR cycling is dependent on the di-leucine-based (diL) receptor-sorting motif present in CD3G. Phosphorylated on Tyr residues after T-cell receptor triggering by LCK in association with CD4/CD8 (PubMed:2470098). Phosphorylated also by PKC; leading to the TCR complex down-regulation (PubMed:8187769).;Phosphorylated on Tyr residues after T-cell receptor triggering by LCK in association with CD4/CD8. NA Hematopoietic cell lineage;T cell receptor signaling pathway;Chagas disease (American trypanosomiasis);Measles;HTLV-I infection;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling;Role of phospholipids in phagocytosis;FCGR activation;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 11 +NX_P09758 Tumor-associated calcium signal transducer 2 323 35709 9.14 1 Membrane;Cytoplasmic vesicle;Nucleolus;Cell membrane Corneal dystrophy, gelatinous drop-like May function as a growth factor receptor. The N-terminus is blocked. Belongs to the EPCAM family. NA PE1 1 +NX_P09769 Tyrosine-protein kinase Fgr 529 59479 5.41 0 Cell membrane;Mitochondrion intermembrane space;Ruffle membrane;Cytosol;Mitochondrion inner membrane;Cytoskeleton NA Non-receptor tyrosine-protein kinase that transmits signals from cell surface receptors devoid of kinase activity and contributes to the regulation of immune responses, including neutrophil, monocyte, macrophage and mast cell functions, cytoskeleton remodeling in response to extracellular stimuli, phagocytosis, cell adhesion and migration. Promotes mast cell degranulation, release of inflammatory cytokines and IgE-mediated anaphylaxis. Acts downstream of receptors that bind the Fc region of immunoglobulins, such as MS4A2/FCER1B, FCGR2A and/or FCGR2B. Acts downstream of ITGB1 and ITGB2, and regulates actin cytoskeleton reorganization, cell spreading and adhesion. Depending on the context, activates or inhibits cellular responses. Functions as negative regulator of ITGB2 signaling, phagocytosis and SYK activity in monocytes. Required for normal ITGB1 and ITGB2 signaling, normal cell spreading and adhesion in neutrophils and macrophages. Functions as positive regulator of cell migration and regulates cytoskeleton reorganization via RAC1 activation. Phosphorylates SYK (in vitro) and promotes SYK-dependent activation of AKT1 and MAP kinase signaling. Phosphorylates PLD2 in antigen-stimulated mast cells, leading to PLD2 activation and the production of the signaling molecules lysophosphatidic acid and diacylglycerol. Promotes activation of PIK3R1. Phosphorylates FASLG, and thereby regulates its ubiquitination and subsequent internalization. Phosphorylates ABL1. Promotes phosphorylation of CBL, CTTN, PIK3R1, PTK2/FAK1, PTK2B/PYK2 and VAV2. Phosphorylates HCLS1 that has already been phosphorylated by SYK, but not unphosphorylated HCLS1. Ubiquitinated. Becomes ubiquitinated in response to ITGB2 signaling; this does not lead to degradation.;Phosphorylated. Autophosphorylated on tyrosine residues. Becomes phosphorylated in response to FCGR2A and/or FCGR2B engagement, cell adhesion and signaling by ITGB2. Prior phosphorylation at Tyr-523 by SRC inhibits ulterior autophosphorylation at Tyr-412. Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily. Chemokine signaling pathway;FCGR activation;Platelet sensitization by LDL;Neutrophil degranulation PE1 1 +NX_P09848 Lactase-phlorizin hydrolase 1927 218587 5.9 1 Apical cell membrane Congenital lactase deficiency LPH splits lactose in the small intestine. NA Belongs to the glycosyl hydrolase 1 family. Galactose metabolism;Metabolic pathways;Carbohydrate digestion and absorption;Digestion of dietary carbohydrate;Intestinal saccharidase deficiencies PE1 2 +NX_P09871 Complement C1s subcomponent 688 76684 4.86 0 Nucleoplasm;Cytosol Complement component C1s deficiency;Ehlers-Danlos syndrome, periodontal type, 2 C1s B chain is a serine protease that combines with C1q and C1r to form C1, the first component of the classical pathway of the complement system. C1r activates C1s so that it can, in turn, activate C2 and C4. The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. Belongs to the peptidase S1 family. Complement and coagulation cascades;Pertussis;Staphylococcus aureus infection;Systemic lupus erythematosus;Regulation of Complement cascade;Initial triggering of complement;Classical antibody-mediated complement activation PE1 12 +NX_P09874 Poly [ADP-ribose] polymerase 1 1014 113084 8.99 0 Nucleoplasm;Nucleus;Nucleolus;Chromosome NA Poly-ADP-ribosyltransferase that mediates poly-ADP-ribosylation of proteins and plays a key role in DNA repair (PubMed:17177976, PubMed:18172500, PubMed:19344625, PubMed:19661379, PubMed:23230272, PubMed:25043379, PubMed:26344098). Mainly mediates glutamate and aspartate ADP-ribosylation of target proteins: the ADP-D-ribosyl group of NAD(+) is transferred to the acceptor carboxyl group of glutamate and aspartate residues and further ADP-ribosyl groups are transferred to the 2'-position of the terminal adenosine moiety, building up a polymer with an average chain length of 20-30 units (PubMed:7852410, PubMed:9315851, PubMed:19764761, PubMed:25043379). Mediates the poly(ADP-ribosyl)ation of a number of proteins, including itself, APLF and CHFR (PubMed:17396150, PubMed:19764761). Also mediates serine ADP-ribosylation of target proteins following interaction with HPF1; HPF1 conferring serine specificity (PubMed:28190768). Probably also catalyzes tyrosine ADP-ribosylation of target proteins following interaction with HPF1 (PubMed:30257210). Catalyzes the poly-ADP-ribosylation of histones in a HPF1-dependent manner (PubMed:27067600). Involved in the base excision repair (BER) pathway by catalyzing the poly-ADP-ribosylation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism (PubMed:17177976, PubMed:18172500, PubMed:19344625, PubMed:19661379, PubMed:23230272). ADP-ribosylation follows DNA damage and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks (PubMed:17177976, PubMed:18172500, PubMed:19344625, PubMed:19661379, PubMed:23230272). In addition to base excision repair (BER) pathway, also involved in double-strand breaks (DSBs) repair: together with TIMELESS, accumulates at DNA damage sites and promotes homologous recombination repair by mediating poly-ADP-ribosylation (PubMed:26344098, PubMed:30356214). In addition to proteins, also able to ADP-ribosylate DNA: catalyzes ADP-ribosylation of DNA strand break termini containing terminal phosphates and a 2'-OH group in single- and double-stranded DNA, respectively (PubMed:27471034). Required for PARP9 and DTX3L recruitment to DNA damage sites (PubMed:23230272). PARP1-dependent PARP9-DTX3L-mediated ubiquitination promotes the rapid and specific recruitment of 53BP1/TP53BP1, UIMC1/RAP80, and BRCA1 to DNA damage sites (PubMed:23230272). Acts as a regulator of transcription: positively regulates the transcription of MTUS1 and negatively regulates the transcription of MTUS2/TIP150 (PubMed:19344625). With EEF1A1 and TXK, forms a complex that acts as a T-helper 1 (Th1) cell-specific transcription factor and binds the promoter of IFN-gamma to directly regulate its transcription, and is thus involved importantly in Th1 cytokine production (PubMed:17177976). Involved in the synthesis of ATP in the nucleus, together with NMNAT1, PARG and NUDT5 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). Poly-ADP-ribosylated on glutamate and aspartate residues by autocatalysis (PubMed:19764761). Poly-ADP-ribosylated by PARP2; poly-ADP-ribosylation mediates the recruitment of CHD1L to DNA damage sites (PubMed:19661379). ADP-ribosylated on serine by autocatalysis; serine ADP-ribosylation takes place following interaction with HPF1 (PubMed:28190768).;Phosphorylated by PRKDC and TXK.;S-nitrosylated, leading to inhibit transcription regulation activity.;PARP1 is phosphorylated by TXK (Phosphotyrosine:PTM-0255) NA Base excision repair;SUMOylation of DNA damage response and repair proteins;Downregulation of SMAD2/3:SMAD4 transcriptional activity;POLB-Dependent Long Patch Base Excision Repair;HDR through MMEJ (alt-NHEJ);DNA Damage Recognition in GG-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER PE1 1 +NX_P09884 DNA polymerase alpha catalytic subunit 1462 165913 5.61 0 Nucleoplasm;Cytosol;Nucleus Pigmentary disorder, reticulate, with systemic manifestations, X-linked Plays an essential role in the initiation of DNA replication. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1/p180, a regulatory subunit POLA2/p70 and two primase subunits PRIM1/p49 and PRIM2/p58) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands. These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively. The reason this transfer occurs is because the polymerase alpha has limited processivity and lacks intrinsic 3' exonuclease activity for proofreading error, and therefore is not well suited for replicating long complexes. In the cytosol, responsible for a substantial proportion of the physiological concentration of cytosolic RNA:DNA hybrids, which are necessary to prevent spontaneous activation of type I interferon responses (PubMed:27019227). A 165 kDa form is probably produced by proteolytic cleavage at Lys-124. Belongs to the DNA polymerase type-B family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;DNA replication;Activation of the pre-replicative complex;G1/S-Specific Transcription;Inhibition of replication initiation of damaged DNA by RB1/E2F1;Polymerase switching on the C-strand of the telomere;Polymerase switching;Removal of the Flap Intermediate;Processive synthesis on the lagging strand;Telomere C-strand synthesis initiation;DNA replication initiation PE1 X +NX_P09912 Interferon alpha-inducible protein 6 130 12927 5.27 4 Mitochondrion inner membrane;Mitochondrion NA Plays a role in apoptosis, negatively regulating the intrinsinc apoptotic signaling pathway and TNFSF10-induced apoptosis (PubMed:15685448, PubMed:17823654, PubMed:26244642). However, it has also been shown to have a pro-apoptotic activity (PubMed:27673746). Has an antiviral activity towards hepatitis C virus/HCV by inhibiting the EGFR signaling pathway, which activation is required for entry of the virus into cells (PubMed:25757571). Glycosylated. Belongs to the IFI6/IFI27 family. Interferon alpha/beta signaling PE1 1 +NX_P09913 Interferon-induced protein with tetratricopeptide repeats 2 472 54632 6.32 0 Endoplasmic reticulum;Cytoplasmic vesicle;Cytoplasm NA IFN-induced antiviral protein which inhibits expression of viral messenger RNAs lacking 2'-O-methylation of the 5' cap. The ribose 2'-O-methylation would provide a molecular signature to distinguish between self and non-self mRNAs by the host during viral infection. Viruses evolved several ways to evade this restriction system such as encoding their own 2'-O-methylase for their mRNAs or by stealing host cap containing the 2'-O-methylation (cap snatching mechanism). Binds AU-rich viral RNAs, with or without 5' triphosphorylation, RNA-binding is required for antiviral activity. Can promote apoptosis. NA Belongs to the IFIT family. Interferon alpha/beta signaling PE1 10 +NX_P09914 Interferon-induced protein with tetratricopeptide repeats 1 478 55360 6.75 0 Cytoplasm;Cytosol NA Interferon-induced antiviral RNA-binding protein that specifically binds single-stranded RNA bearing a 5'-triphosphate group (PPP-RNA), thereby acting as a sensor of viral single-stranded RNAs and inhibiting expression of viral messenger RNAs. Single-stranded PPP-RNAs, which lack 2'-O-methylation of the 5' cap and bear a 5'-triphosphate group instead, are specific from viruses, providing a molecular signature to distinguish between self and non-self mRNAs by the host during viral infection. Directly binds PPP-RNA in a non-sequence-specific manner. Viruses evolved several ways to evade this restriction system such as encoding their own 2'-O-methylase for their mRNAs or by stealing host cap containing the 2'-O-methylation (cap snatching mechanism). Exhibits antiviral activity against several viruses including human papilloma and hepatitis C viruses. ISGylated.;Phosphorylated. Belongs to the IFIT family. Hepatitis C;Herpes simplex infection;ISG15 antiviral mechanism;Interferon alpha/beta signaling PE1 10 +NX_P09917 Arachidonate 5-lipoxygenase 674 77983 5.51 0 Nucleoplasm;Nucleus matrix;Cytoplasm;Nucleus membrane NA Catalyzes the first step in leukotriene biosynthesis, and thereby plays a role in inflammatory processes. Serine phosphorylation by MAPKAPK2 is stimulated by arachidonic acid. Phosphorylation on Ser-523 by PKA has an inhibitory effect. Phosphorylation on Ser-272 prevents export from the nucleus. Belongs to the lipoxygenase family. Lipid metabolism; leukotriene A4 biosynthesis.;Arachidonic acid metabolism;Metabolic pathways;Toxoplasmosis;Synthesis of Leukotrienes (LT) and Eoxins (EX);Synthesis of Lipoxins (LX);Synthesis of 5-eicosatetraenoic acids;Neutrophil degranulation;Interleukin-4 and Interleukin-13 signaling;Interleukin-18 signaling;Biosynthesis of electrophilic Omega-3 PUFA oxo-derivatives;Biosynthesis of maresins;Biosynthesis of D-series resolvins;Biosynthesis of E-series 18(S)-resolvins;Biosynthesis of aspirin-triggered D-series resolvins;Biosynthesis of E-series 18(R)-resolvins;Biosynthesis of DPAn-3-derived protectins and resolvins;Biosynthesis of DPAn-3-derived maresins;Biosynthesis of DPAn-3-derived 13-series resolvins PE1 10 +NX_P09919 Granulocyte colony-stimulating factor 207 22293 5.61 0 Secreted NA Granulocyte/macrophage colony-stimulating factors are cytokines that act in hematopoiesis by controlling the production, differentiation, and function of 2 related white cell populations of the blood, the granulocytes and the monocytes-macrophages. This CSF induces granulocytes. O-glycan consists of Gal-GalNAc disaccharide which can be modified with up to two sialic acid residues (done in recombinantly expressed G-CSF from CHO cells). Belongs to the IL-6 superfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Hematopoietic cell lineage;Malaria;Interleukin-10 signaling;Other interleukin signaling PE1 17 +NX_P09923 Intestinal-type alkaline phosphatase 528 56812 5.53 0 Cell membrane NA NA NA Belongs to the alkaline phosphatase family. Folate biosynthesis;Metabolic pathways;Synthesis of PA;Digestion;Post-translational modification: synthesis of GPI-anchored proteins PE1 2 +NX_P09936 Ubiquitin carboxyl-terminal hydrolase isozyme L1 223 24824 5.33 0 Cytoplasm;Nucleoplasm;Endoplasmic reticulum membrane;Cytosol Parkinson disease 5;Spastic paraplegia 79, autosomal recessive Ubiquitin-protein hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins (Probable). This enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin (PubMed:9774100, PubMed:8639624, PubMed:12408865, PubMed:23359680). Also binds to free monoubiquitin and may prevent its degradation in lysosomes (By similarity). The homodimer may have ATP-independent ubiquitin ligase activity (PubMed:12408865). O-glycosylated. Belongs to the peptidase C12 family. Parkinson's disease;UCH proteinases PE1 4 +NX_P09958 Furin 794 86678 6.01 1 Golgi apparatus;Endosome membrane;Cell membrane;trans-Golgi network membrane;Secreted;Nucleoplasm NA (Microbial infection) Able to cleave S.pneumoniae serine-rich repeat protein PsrP.;(Microbial infection) Required for H7N1 and H5N1 influenza virus infection probably by cleaving hemagglutinin.;(Microbial infection) Probably cleaves and activates anthrax and diphtheria toxins.;Ubiquitous endoprotease within constitutive secretory pathways capable of cleavage at the RX(K/R)R consensus motif (PubMed:11799113, PubMed:1629222, PubMed:1713771, PubMed:2251280, PubMed:24666235, PubMed:25974265, PubMed:7592877, PubMed:7690548, PubMed:9130696). Mediates processing of TGFB1, an essential step in TGF-beta-1 activation (PubMed:7737999). Phosphorylation is required for TGN localization of the endoprotease. In vivo, exists as di-, mono- and non-phosphorylated forms.;The inhibition peptide, which plays the role of an intramolecular chaperone, is autocatalytically removed in the endoplasmic reticulum (ER) and remains non-covalently bound to furin as a potent autoinhibitor. Following transport to the trans Golgi, a second cleavage within the inhibition propeptide results in propeptide dissociation and furin activation. Belongs to the peptidase S8 family. Furin subfamily. Influenza A;Signaling by PDGF;Uptake and function of anthrax toxins;Amyloid fiber formation;Collagen degradation;Pre-NOTCH Processing in Golgi;Activation of Matrix Metalloproteinases;Elastic fibre formation;TGF-beta receptor signaling activates SMADs;Signaling by NODAL;NGF processing;Removal of aminoterminal propeptides from gamma-carboxylated proteins;Synthesis and processing of ENV and VPU;Formation of the cornified envelope;Assembly of active LPL and LIPC lipase complexes PE1 15 +NX_P09960 Leukotriene A-4 hydrolase 611 69285 5.8 0 Nucleoplasm;Cytosol;Cytoplasm NA Epoxide hydrolase that catalyzes the final step in the biosynthesis of the proinflammatory mediator leukotriene B4. Has also aminopeptidase activity. Phosphorylation at Ser-416 inhibits enzymatic activity. Belongs to the peptidase M1 family. Lipid metabolism; leukotriene B4 biosynthesis.;Arachidonic acid metabolism;Metabolic pathways;Synthesis of Leukotrienes (LT) and Eoxins (EX);Neutrophil degranulation;Biosynthesis of D-series resolvins;Biosynthesis of E-series 18(S)-resolvins;Biosynthesis of protectins;Biosynthesis of aspirin-triggered D-series resolvins;Biosynthesis of E-series 18(R)-resolvins PE1 12 +NX_P09972 Fructose-bisphosphate aldolase C 364 39456 6.41 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleolus NA NA NA Belongs to the class I fructose-bisphosphate aldolase family. Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 4/4.;Glycolysis / Gluconeogenesis;Pentose phosphate pathway;Fructose and mannose metabolism;Metabolic pathways;Glycolysis;Gluconeogenesis;Neutrophil degranulation PE1 17 +NX_P0C024 Peroxisomal coenzyme A diphosphatase NUDT7 238 26942 6.55 0 Golgi apparatus;Peroxisome;Nucleoplasm NA Coenzyme A diphosphatase which mediates the cleavage of CoA, CoA esters and oxidized CoA with similar efficiencies, yielding 3',5'-ADP and the corresponding 4'-phosphopantetheine derivative as products. CoA into 3',5'-ADP and 4'-phosphopantetheine. Has no activity toward NDP-sugars, CDP-alcohols, (deoxy)nucleoside 5'-triphosphates, nucleoside 5'-di or monophosphates, diadenosine polyphosphates, NAD, NADH, NADP, NADPH or thymidine-5'-monophospho-p-nitrophenyl ester. May be required to eliminate oxidized CoA from peroxisomes, or regulate CoA and acyl-CoA levels in this organelle in response to metabolic demand. Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA (By similarity). NA Belongs to the Nudix hydrolase family. PCD1 subfamily. Peroxisomal lipid metabolism;Peroxisomal protein import PE1 16 +NX_P0C025 Nucleoside diphosphate-linked moiety X motif 17 328 35923 6.2 0 Cytosol;Centrosome NA Probably mediates the hydrolysis of some nucleoside diphosphate derivatives. NA Belongs to the Nudix hydrolase family. NA PE1 1 +NX_P0C091 FRAS1-related extracellular matrix protein 3 2139 238179 5.14 0 Extracellular matrix NA Extracellular matrix protein which may play a role in cell adhesion. NA Belongs to the FRAS1 family. NA PE2 4 +NX_P0C0E4 Ras-related protein Rab-40A-like 278 31239 9.64 0 Membrane;Cytoplasm;Mitochondrion Mental retardation, X-linked, syndromic, Martin-Probst type May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the small GTPase superfamily. Rab family. Protein modification; protein ubiquitination. PE1 X +NX_P0C0L4 Complement C4-A 1744 192785 6.66 0 Axon;Dendrite;Secreted;Synapse Systemic lupus erythematosus;Complement component 4A deficiency Derived from proteolytic degradation of complement C4, C4a anaphylatoxin is a mediator of local inflammatory process. It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes.;Non-enzymatic component of C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens. N- and O-glycosylated. O-glycosylated with a core 1 or possibly core 8 glycan.;Prior to secretion, the single-chain precursor is enzymatically cleaved to yield non-identical chains alpha, beta and gamma. During activation, the alpha chain is cleaved by C1 into C4a and C4b, and C4b stays linked to the beta and gamma chains. Further degradation of C4b by C1 into the inactive fragments C4c and C4d blocks the generation of C3 convertase. The proteolytic cleavages often are incomplete so that many structural forms can be found in plasma. NA Complement and coagulation cascades;Pertussis;Staphylococcus aureus infection;Systemic lupus erythematosus;Regulation of Complement cascade;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Initial triggering of complement;Activation of C3 and C5;Post-translational protein phosphorylation PE1 6 +NX_P0C0L5 Complement C4-B 1744 192751 6.89 0 Axon;Dendrite;Secreted;Synapse Complement component 4B deficiency;Systemic lupus erythematosus Derived from proteolytic degradation of complement C4, C4a anaphylatoxin is a mediator of local inflammatory process. It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes.;Non-enzymatic component of the C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens. Prior to secretion, the single-chain precursor is enzymatically cleaved to yield non-identical chains alpha, beta and gamma. During activation, the alpha chain is cleaved by C1 into C4a and C4b, and C4b stays linked to the beta and gamma chains. Further degradation of C4b by C1 into the inactive fragments C4c and C4d blocks the generation of C3 convertase. The proteolytic cleavages often are incomplete so that many structural forms can be found in plasma. NA Complement and coagulation cascades;Pertussis;Staphylococcus aureus infection;Systemic lupus erythematosus;Regulation of Complement cascade;Initial triggering of complement;Activation of C3 and C5 PE1 6 +NX_P0C0P6 Neuropeptide S 89 10103 10.3 0 Secreted NA Modulates arousal and anxiety. May play an important anorexigenic role (By similarity). Binds to its receptor NPSR1 with nanomolar affinity to increase intracellular calcium concentrations (PubMed:15312648, PubMed:16790440). NA NA Peptide ligand-binding receptors;G alpha (q) signalling events;G alpha (s) signalling events PE2 10 +NX_P0C0S5 Histone H2A.Z 128 13553 10.58 0 Nucleoplasm;Nucleus;Chromosome NA Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in the formation of constitutive heterochromatin. May be required for chromosome segregation during cell division. Monomethylated on Lys-5 and Lys-8 by SETD6. SETD6 predominantly methylates Lys-8, lys-5 being a possible secondary site.;Acetylated on Lys-5, Lys-8 and Lys-12 during interphase. Acetylation disappears at mitosis (By similarity).;Monoubiquitination of Lys-122 gives a specific tag for epigenetic transcriptional repression.;Not phosphorylated. Belongs to the histone H2A family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;RMTs methylate histone arginines;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 4 +NX_P0C0S8 Histone H2A type 1 130 14091 10.9 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239).;Deiminated on Arg-4 in granulocytes upon calcium entry.;Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of 'Lys-27' of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and 'Lys-63'-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend 'Lys-63'-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). H2AK119Ub and ionizing radiation-induced 'Lys-63'-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events.;Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.;Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription. Belongs to the histone H2A family. Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;RMTs methylate histone arginines;HATs acetylate histones;HDACs deacetylate histones;UCH proteinases;Ub-specific processing proteases;Metalloprotease DUBs PE1 6 +NX_P0C1H6 Histone H2B type F-M 154 17001 10.08 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. NA Belongs to the histone H2B family. NA PE1 X +NX_P0C1S8 Wee1-like protein kinase 2 567 62925 6.06 0 Nucleoplasm;Nucleus Oocyte maturation defect 5 Oocyte-specific protein tyrosine kinase that phosphorylates and inhibits CDK1/CDC2 and acts as a key regulator of meiosis during both prophase I and metaphase II (PubMed:29606300). Required to maintain meiotic arrest in oocytes during the germinal vesicle (GV) stage, a long period of quiescence at dictyate prophase I, by phosphorylating CDK1 at 'Tyr-15', leading to inhibit CDK1 activity and prevent meiotic reentry. Also required for metaphase II exit during egg activation by phosphorylating CDK1 at 'Tyr-15', to ensure exit from meiosis in oocytes and promote pronuclear formation (By similarity). Phosphorylated on serine residues (PubMed:29606300). Phosphorylation leads to increase its activity (By similarity). Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WEE1 subfamily. Cell cycle PE1 7 +NX_P0C1Z6 TCF3 fusion partner 253 28278 5.19 0 Nucleoplasm;Nucleus membrane;Nucleus NA Appears to promote apoptosis in a p53/TP53-independent manner.;Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. NA NA DNA Damage Recognition in GG-NER;UCH proteinases PE1 19 +NX_P0C221 Coiled-coil domain-containing protein 175 793 93626 6.34 0 Nucleoplasm;Cytosol;Nucleolus NA NA NA NA NA PE1 14 +NX_P0C263 Serine/threonine-protein kinase SBK2 348 38088 5.3 0 NA NA NA NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily. NA PE1 19 +NX_P0C264 Uncharacterized serine/threonine-protein kinase SBK3 359 38488 4.71 0 Mitochondrion NA NA NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily. NA PE1 19 +NX_P0C2L3 Protein FAM163B 166 18190 4.86 1 Membrane;Cytosol;Nucleus;Cell membrane NA NA NA Belongs to the FAM163 family. NA PE1 9 +NX_P0C2S0 Cortexin-2 81 8980 4.36 1 Membrane NA NA NA Belongs to the cortexin family. NA PE2 15 +NX_P0C2W1 F-box/SPRY domain-containing protein 1 286 30633 8.01 0 Cytosol;Presynaptic cell membrane;Postsynaptic cell membrane NA Component of E3 ubiquitin ligase complexes. Required for normal neuromuscular synaptogenesis, axon pathfinding and neuronal migration (By similarity). Plays a role in the regulation of neurotransmission at mature neurons (By similarity). May control synaptic activity by controlling UNC13A via ubiquitin dependent pathway (By similarity). Specifically recognizes TP73, promoting its ubiquitination and degradation. NA Belongs to the FBXO45/Fsn family. Protein modification; protein ubiquitination. PE1 3 +NX_P0C2W7 Cancer/testis antigen 47B 299 31319 4.11 0 NA NA NA NA NA NA PE1 X +NX_P0C2Y1 Putative neuroblastoma breakpoint family member 7 421 48090 4.73 0 Cytoplasm NA NA NA Belongs to the NBPF family. NA PE5 1 +NX_P0C5J1 Putative protein N-methyltransferase FAM86B2 330 36771 5.85 0 NA NA NA NA Belongs to the class I-like SAM-binding methyltransferase superfamily. EEF2KMT family. NA PE1 8 +NX_P0C5K6 Putative tumor antigen NA88-A 33 3500 9.5 0 NA NA NA NA NA NA PE5 X +NX_P0C5K7 Cancer/testis antigen 62 136 15412 9.08 0 NA NA NA NA NA NA PE2 15 +NX_P0C5Y4 Keratin-associated protein 1-4 121 12324 6.14 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 1 family. Keratinization PE2 17 +NX_P0C5Y9 Histone H2A-Bbd type 1 115 12697 10.67 0 Nucleus;Chromosome NA Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with active transcription and mRNA processing (PubMed:22795134). Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability (PubMed:15257289, PubMed:16287874, PubMed:16957777, PubMed:17591702, PubMed:17726088, PubMed:18329190, PubMed:22795134). Nucleosomes containing this histone are less rigid and organize less DNA than canonical nucleosomes in vivo (PubMed:15257289, PubMed:16957777, PubMed:17591702, PubMed:24336483). They are enriched in actively transcribed genes and associate with the elongating form of RNA polymerase (PubMed:17591702, PubMed:24753410). They associate with spliceosome components and are required for mRNA splicing (PubMed:22795134). NA Belongs to the histone H2A family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;RMTs methylate histone arginines;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 X +NX_P0C5Z0 Histone H2A-Bbd type 2/3 115 12713 10.67 0 Nucleus;Chromosome NA Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with active transcription and mRNA processing. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. Nucleosomes containing this histone are less rigid and organize less DNA than canonical nucleosomes in vivo. They are enriched in actively transcribed genes and associate with the elongating form of RNA polymerase. They associate with spliceosome components and are required for mRNA splicing. May participate in spermatogenesis. NA Belongs to the histone H2A family. Systemic lupus erythematosus;Systemic lupus erythematosus PE1 X +NX_P0C604 Olfactory receptor 4A8 315 35621 7.93 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 11 +NX_P0C617 Olfactory receptor 5AL1 328 36816 7.52 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 11 +NX_P0C623 Olfactory receptor 4Q2 307 34733 8.63 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 14 +NX_P0C626 Olfactory receptor 5G3 314 35647 8.86 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 11 +NX_P0C628 Olfactory receptor 5AC1 307 34762 9.22 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 3 +NX_P0C629 Olfactory receptor 10J4 311 34891 9.2 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 1 +NX_P0C645 Olfactory receptor 4E1 315 35737 8.58 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 14 +NX_P0C646 Olfactory receptor 52Z1 298 33382 8.97 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 11 +NX_P0C671 Protein BNIP5 652 71930 8.7 0 NA NA NA NA NA NA PE1 6 +NX_P0C672 Putative tetraspanin-19 248 28460 7.55 3 Membrane NA NA NA Belongs to the tetraspanin (TM4SF) family. NA PE5 12 +NX_P0C6A0 GATA-type zinc finger protein 1 271 29628 9.34 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Transcriptional repressor that plays a central role in somatic cells of the gonad and is required for germ cell development. Able to repress GATA transcription factor function (By similarity). NA NA NA PE1 19 +NX_P0C6C1 Ankyrin repeat domain-containing protein 34C 535 58256 9.15 0 Mitochondrion NA NA NA Belongs to the ANKRD34 family. NA PE2 15 +NX_P0C6P0 Putative protein BCL8 100 11233 8.77 0 NA NA NA NA NA NA PE5 15 +NX_P0C6S8 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 592 64881 8.94 1 Membrane;Mitochondrion NA NA NA NA NA PE1 19 +NX_P0C6T2 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 4 37 4193 6.52 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. Specifically involved in maintaining stability of STT3A-containing OST complexes. NA Belongs to the OST4 family. Protein modification; protein glycosylation. PE1 2 +NX_P0C7A2 Protein FAM153B 387 43591 4.71 0 NA NA NA NA Belongs to the FAM153 family. NA PE2 5 +NX_P0C7H8 Keratin-associated protein 2-3 128 13480 8.32 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity). NA Belongs to the KRTAP type 2 family. Keratinization PE1 17 +NX_P0C7H9 Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 7 530 59751 8.09 0 Endoplasmic reticulum;Nucleus NA NA NA Belongs to the peptidase C19 family. USP17 subfamily. NA PE3 8 +NX_P0C7I0 Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 8 530 59635 7.3 0 Endoplasmic reticulum;Nucleus NA NA NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE3 8 +NX_P0C7I6 Coiled-coil domain-containing protein 159 297 33695 5.64 0 Nucleoplasm;Cytosol;Nucleus NA NA NA NA NA PE1 19 +NX_P0C7L1 Serine protease inhibitor Kazal-type 8 97 10821 4.9 0 Secreted NA Probable serine protease inhibitor. NA NA NA PE2 3 +NX_P0C7M3 Surfactant-associated protein 3 94 10526 6.81 0 Cytoplasm;Secreted NA Putative surfactant protein. May be involved in wound healing and in the reduction of the surface tension at the ocular surface. NA NA Surfactant metabolism;Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5);Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4) PE1 14 +NX_P0C7M4 Rhox homeobox family member 2B 288 31637 4.52 0 Nucleus NA Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis. NA Belongs to the paired-like homeobox family. PEPP subfamily. NA PE1 X +NX_P0C7M6 IQ domain-containing protein F3 154 18251 10.51 0 NA NA NA NA NA NA PE1 3 +NX_P0C7M7 Acyl-coenzyme A synthetase ACSM4, mitochondrial 580 65703 8.84 0 Mitochondrion NA Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (By similarity). Capable of activating medium-chain fatty acids with a preference for C6-12 fatty acids (By similarity). NA Belongs to the ATP-dependent AMP-binding enzyme family. Butanoate metabolism;Metabolic pathways;Conjugation of salicylate with glycine PE1 12 +NX_P0C7M8 C-type lectin domain family 2 member L 214 23927 6.83 1 Membrane NA NA NA NA NA PE1 7 +NX_P0C7N1 Olfactory receptor 8U8 319 36334 8.77 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_P0C7N4 Transmembrane protein 191B 346 39065 8.39 1 Membrane NA NA NA Belongs to the TMEM191 family. NA PE2 22 +NX_P0C7N5 Olfactory receptor 8U9 309 35054 8.4 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 11 +NX_P0C7N8 Olfactory receptor 9G9 305 34020 8.1 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 11 +NX_P0C7P0 CDGSH iron-sulfur domain-containing protein 3, mitochondrial 127 14216 10.56 0 Mitochondrion NA Can transfer its iron-sulfur clusters to the apoferrodoxins FDX1 and FDX2. Contributes to mitochondrial iron homeostasis and in maintaining normal levels of free iron and reactive oxygen species, and thereby contributes to normal mitochondrial function. NA Belongs to the CISD protein family. NA PE1 17 +NX_P0C7P1 RNA-binding motif protein, Y chromosome, family 1 member D 496 55775 9.95 0 Nucleus NA RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by participating in pre-mRNA splicing in the testis. NA NA NA PE2 Y +NX_P0C7P2 Putative protein RFPL3S 107 11739 10.07 0 NA NA NA NA NA NA PE2 22 +NX_P0C7P3 Protein SLFN14 912 103907 8.57 0 Nucleus Bleeding disorder, platelet-type 20 Protein SLFN14: Shows no ribosome-associated and endoribonuclease activities.;C-terminally truncated SLFN14 endoribonuclease: Displays polysome-associated endoribonuclease activity towards mRNAs and rRNAs (PubMed:25996083). May play a role in RNA surveillance pathways by recognizing stalled ribosomes and triggering endonucleolytic cleavage of aberrant mRNAs (Probable). Cleaves different types of rRNAs and mRNAs in a magnesium- and manganese-dependent and ATP-independent manner (By similarity). Involved in correct maturation of megakaryocytes and especially important for proplatelet extension. NA Belongs to the Schlafen family. Subgroup III subfamily. NA PE1 17 +NX_P0C7P4 Putative cytochrome b-c1 complex subunit Rieske-like protein 1 283 30815 9.04 0 NA NA NA NA NA NA PE5 22 +NX_P0C7Q2 Age-related maculopathy susceptibility protein 2 107 11437 9.03 0 Cytoplasm Macular degeneration, age-related, 8 NA NA NA NA PE1 10 +NX_P0C7Q5 Putative solute carrier family 35 member G4 338 35378 6.77 7 Membrane NA NA NA Belongs to the SLC35G solute transporter family. NA PE5 18 +NX_P0C7Q6 Solute carrier family 35 member G6 338 35103 6.11 9 Membrane NA NA NA Belongs to the SLC35G solute transporter family. NA PE2 17 +NX_P0C7T2 Olfactory receptor 2T7 308 34287 8.56 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 1 +NX_P0C7T3 Olfactory receptor 56A5 313 35317 9.02 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_P0C7T4 Minor histocompatibility protein HMSD variant form 53 6023 5.01 0 NA NA This allelic splice variant of HMSD is the precursor of the histocompatibility antigen ACC-6. More generally, minor histocompatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and its expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocompatibility antigen in HLA-matched sibling marrow transplants. However, associated with GVHD, a favorable graft-versus-leukemia (GVL) can be induced by donor-recipient disparities in mHags. ACC-6 is presented to the cell surface by MHC HLA-B*4403. This complex specifically elicits donor-cytotoxic T-lymphocyte (CTL) reactivity against hematologic malignancies after treatment by HLA-identical allogenic BMT. It induces cell recognition and lysis by CTL. Immunogenicity of most autosomal mHags results from single-nucleotide polymorphisms that cause amino-acid substitutions within epitopes, leading to the differential recognition of peptides between donor and recipient. NA NA NA PE1 18 +NX_P0C7T5 Ataxin-1-like 689 73306 6.13 0 Nucleoplasm;Dendrite;Nucleus NA Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression (PubMed:21475249). Can suppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1). In concert with CIC and ATXN1, involved in brain development (By similarity). NA Belongs to the ATXN1 family. NA PE1 16 +NX_P0C7T7 Putative uncharacterized protein FRMD6-AS1 363 38799 11.74 0 NA NA NA NA NA NA PE5 14 +NX_P0C7T8 Transmembrane protein 253 217 23522 6.71 4 Membrane NA NA NA NA NA PE2 14 +NX_P0C7U0 Protein ELFN1 828 90477 8.67 1 Membrane;Nucleoplasm;Cell junction;Dendrite NA Postsynaptic protein that regulates circuit dynamics in the central nervous system by modulating the temporal dynamics of interneuron recruitment. Specifically present in excitatory synapses onto oriens-lacunosum molecular (OLM) interneurons and acts as a regulator of presynaptic release probability to direct the formation of highly facilitating pyramidal-OLM synapses (By similarity). Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. NA NA NA PE1 7 +NX_P0C7U1 Putative inactive neutral ceramidase B 165 19025 9.1 0 NA NA NA NA Belongs to the neutral ceramidase family. NA PE2 10 +NX_P0C7U3 Probable palmitoyltransferase ZDHHC11B 371 41895 8.88 5 Membrane NA NA NA Belongs to the DHHC palmitoyltransferase family. NA PE2 5 +NX_P0C7U9 Protein FAM87A 286 31739 10.05 2 Membrane NA NA NA Belongs to the FAM87 family. NA PE2 8 +NX_P0C7V0 Putative uncharacterized protein encoded by LINC00271 271 29146 11.35 0 NA NA NA NA NA NA PE5 6 +NX_P0C7V4 Putative protein FAM90A15P 464 49895 9.95 0 NA NA NA NA Belongs to the FAM90 family. NA PE5 8 +NX_P0C7V6 Putative transcription factor SPT20 homolog-like 2 817 87541 9.02 0 NA NA NA NA Belongs to the SPT20 family. NA PE5 X +NX_P0C7V7 Putative signal peptidase complex catalytic subunit SEC11B 166 19160 9.66 1 Membrane NA Putative component of some signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum. NA Belongs to the peptidase S26B family. NA PE5 8 +NX_P0C7V8 DDB1- and CUL4-associated factor 8-like protein 2 631 71191 4.64 0 NA NA NA NA Belongs to the WD repeat DCAF8 family. NA PE1 X +NX_P0C7V9 Putative methyltransferase-like protein 15P1 234 26716 5.61 0 NA NA Probable S-adenosyl-L-methionine-dependent methyltransferase. NA Belongs to the methyltransferase superfamily. RsmH family. NA PE5 3 +NX_P0C7W0 Proline-rich protein 29 189 20715 4.83 0 Nucleolus NA NA NA NA NA PE2 17 +NX_P0C7W6 Coiled-coil domain-containing protein 172 258 31035 5.01 0 Cytoplasm;Cilium NA NA NA Belongs to the CCDC172 family. NA PE1 10 +NX_P0C7W8 Putative protein FAM90A13P 464 49853 9.95 0 NA NA NA NA Belongs to the FAM90 family. NA PE5 8 +NX_P0C7W9 Putative protein FAM90A14P 464 49953 9.9 0 NA NA NA NA Belongs to the FAM90 family. NA PE5 8 +NX_P0C7X0 Putative protein FAM90A24P 464 49829 9.95 0 NA NA NA NA Belongs to the FAM90 family. NA PE5 8 +NX_P0C7X1 TBC1 domain family member 3H 549 62219 9.2 0 Cell membrane NA Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation.;Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination. NA NA PE2 17 +NX_P0C7X2 Zinc finger protein 688 276 30575 9.42 0 Nucleoplasm;Cell junction;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_P0C7X3 Putative cyclin-Y-like protein 3 344 39078 7.28 0 NA NA NA NA Belongs to the cyclin family. Cyclin Y subfamily. NA PE3 16 +NX_P0C7X4 Putative ferritin heavy polypeptide-like 19 201 22644 6.65 0 NA NA NA NA Belongs to the ferritin family. NA PE5 X +NX_P0C7X5 Zinc finger protein 806 589 67808 8.76 0 Nucleus NA May function as a transcription factor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE3 2 +NX_P0C841 Putative protein FAM66E 47 5233 6.01 0 NA NA NA NA Belongs to the FAM66 family. NA PE5 8 +NX_P0C842 Putative uncharacterized protein encoded by LINC00614 121 13547 4.49 0 NA NA NA NA NA NA PE5 10 +NX_P0C843 Putative uncharacterized protein encoded by LINC00032 101 12082 10.05 0 NA NA NA NA NA NA PE5 9 +NX_P0C851 Phosphoinositide-interacting protein 137 15334 9.86 2 Membrane;Cytosol;Cell membrane NA Regulatory subunit of TRPV1, a molecular sensor of noxious heat and capsaicin. Positively regulates TRPV1 channel activity via phosphatidylinositol 4,5-bisphosphate (PIP2). Binds various phosphoinositide, including phosphatidylinositol 4,5-bisphosphate (PIP2), but not phosphatidylinositol (PI) (By similarity). NA NA NA PE2 17 +NX_P0C853 Putative uncharacterized protein BAALC-AS2 105 11579 5.82 0 NA NA NA NA NA NA PE5 8 +NX_P0C854 Putative cat eye syndrome critical region protein 9 216 23602 10.5 0 Secreted NA NA NA NA NA PE5 22 +NX_P0C860 Putative male-specific lethal-3 protein-like 2 447 51070 8.6 0 Nucleus NA May be involved in chromatin remodeling and transcriptional regulation. NA NA NA PE5 2 +NX_P0C862 Complement C1q and tumor necrosis factor-related protein 9A 333 34681 8.59 0 Secreted NA Probable adipokine. Activates AMPK, AKT, and p44/42 MAPK signaling pathways. NA NA NA PE1 13 +NX_P0C864 Putative uncharacterized protein DANCR 163 16785 10.29 0 NA NA NA NA NA NA PE5 4 +NX_P0C866 Putative uncharacterized protein encoded by LINC00869 280 30847 5.49 0 NA NA NA NA Belongs to the FAM91 family. NA PE5 1 +NX_P0C869 Cytosolic phospholipase A2 beta 781 87978 5.64 0 Early endosome membrane;Cytosol;Mitochondrion membrane NA Does have activity against phosphatidylcholine.;Has calcium-dependent activity against palmitoyl-arachidonyl-phosphatidylethanolamine and low level lysophospholipase activity but no activity against phosphatidylcholine.;Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position with a preference for arachidonoyl phospholipids. Has a much weaker activity than PLA2G4A. NA NA Glycerophospholipid metabolism;Ether lipid metabolism;Arachidonic acid metabolism;Linoleic acid metabolism;alpha-Linolenic acid metabolism;Metabolic pathways;MAPK signaling pathway;Vascular smooth muscle contraction;VEGF signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Glutamatergic synapse;Long-term depression;GnRH signaling pathway;Pancreatic secretion;Fat digestion and absorption;Toxoplasmosis;Glycerophospholipid metabolism;Ether lipid metabolism;Arachidonic acid metabolism;Linoleic acid metabolism;alpha-Linolenic acid metabolism;Metabolic pathways;MAPK signaling pathway;Vascular smooth muscle contraction;VEGF signaling pathway;Fc epsilon RI signaling pathway;Glutamatergic synapse;Long-term depression;GnRH signaling pathway;Pancreatic secretion;Fat digestion and absorption;Toxoplasmosis;XBP1(S) activates chaperone genes;Synthesis of PA;Acyl chain remodelling of PG;Acyl chain remodelling of PC;Acyl chain remodelling of PS;Acyl chain remodelling of PE;Hydrolysis of LPC PE1 15 +NX_P0C870 Bifunctional peptidase and (3S)-lysyl hydroxylase JMJD7 316 35932 5.22 0 Cytoplasm;Nucleus NA Bifunctional enzyme that acts both as an endopeptidase and 2-oxoglutarate-dependent monoxygenase (PubMed:28847961, PubMed:29915238). Endopeptidase that cleaves histones N-terminal tails at the carboxyl side of methylated arginine or lysine residues, to generate 'tailless nucleosomes', which may trigger transcription elongation (PubMed:28847961). Preferentially recognizes and cleaves monomethylated and dimethylated arginine residues of histones H2, H3 and H4 (PubMed:28847961). After initial cleavage, continues to digest histones tails via its aminopeptidase activity (PubMed:28847961). Additionally, may play a role in protein biosynthesis by modifying the translation machinery (PubMed:29915238). Acts as Fe(2+) and 2-oxoglutarate-dependent monoxygenase, catalyzing (S)-stereospecific hydroxylation at C-3 of 'Lys-22' of DRG1 and 'Lys-21' of DRG2 translation factors (TRAFAC), promoting their interaction with ribonucleic acids (RNA) (PubMed:29915238). NA NA NA PE1 15 +NX_P0C874 Spermatogenesis-associated protein 31D3 917 102419 8.32 1 Membrane NA May play a role in spermatogenesis. NA Belongs to the SPATA31 family. NA PE2 9 +NX_P0C875 Protein FAM228B 324 38070 8.89 0 Golgi apparatus NA NA NA Belongs to the FAM228 family. NA PE1 2 +NX_P0C879 Putative uncharacterized protein FLJ43185 139 14498 12 0 NA NA NA NA NA NA PE5 10 +NX_P0C880 Putative uncharacterized protein FLJ40606 135 14177 11.84 0 NA NA NA NA NA NA PE5 20 +NX_P0C881 Radial spoke head 10 homolog B 870 100635 7.16 0 NA NA NA NA NA NA PE2 7 +NX_P0C8F1 Prostate and testis expressed protein 4 98 11407 8.97 0 Secreted;Acrosome NA May modulate the function of nicotinic acetylcholine receptors. May enhance sperm motility. NA Belongs to the PATE family. NA PE1 11 +NX_P0CAP1 Myocardial zonula adherens protein 466 54206 5.91 0 Cell membrane;Cell junction;Z line;I band;Cytoskeleton NA Plays a role in cellular signaling via Rho-related GTP-binding proteins and subsequent activation of transcription factor SRF (By similarity). Targets TJP1 to cell junctions. In cortical neurons, may play a role in glutaminergic signal transduction through interaction with the NMDA receptor subunit GRIN1 (By similarity). NA Belongs to the MYZAP family. NA PE1 15 +NX_P0CAP2 DNA-directed RNA polymerase II subunit GRINL1A 368 41740 6.01 0 Nucleus envelope;Nucleus NA May play a role in the Mediator complex-dependent regulation of transcription activation.;Appears to be a stable component of the Pol II(G) complex form of RNA polymerase II (Pol II). Pol II synthesizes mRNA precursors and many functional non-coding RNAs and is the central component of the basal RNA polymerase II transcription machinery.;Acts in vitro as a negative regulator of transcriptional activation; this repression is relieved by the Mediator complex, which restores Pol II(G) activator-dependent transcription to a level equivalent to that of Pol II. NA Belongs to the GRINL1 family. NA PE1 15 +NX_P0CAT3 Putative TLX1 neighbor protein 122 13375 10.82 0 NA NA NA NA NA NA PE5 10 +NX_P0CB33 Putative zinc finger protein 735 412 47565 9.31 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE5 7 +NX_P0CB38 Polyadenylate-binding protein 4-like 370 41854 9.53 0 NA NA May bind RNA. NA Belongs to the polyadenylate-binding protein type-1 family. NA PE1 4 +NX_P0CB47 Upstream-binding factor 1-like protein 1 393 46134 9.52 0 Cytoplasm;Nucleus NA Essential for proliferation of the inner cell mass and trophectodermal cells in peri-implantation development. NA NA NA PE2 11 +NX_P0CB48 Putative upstream-binding factor 1-like protein 6 400 46551 9.11 0 Nucleus NA NA NA NA NA PE5 2 +NX_P0CE67 Putative uncharacterized protein C3orf79 100 11337 9.02 0 NA NA NA NA NA NA PE4 3 +NX_P0CE71 Putative oncomodulin-2 109 12129 4.11 0 NA NA NA NA Belongs to the parvalbumin family. NA PE5 7 +NX_P0CE72 Oncomodulin-1 109 12184 4.19 0 NA NA Has some calmodulin-like activity with respect to enzyme activation and growth regulation. Binds two calcium ions. NA Belongs to the parvalbumin family. NA PE1 7 +NX_P0CF51 T cell receptor gamma constant 1 173 19804 7.7 1 Cell membrane NA Constant region of T cell receptor (TR) gamma chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:28920588, PubMed:23348415). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714). NA NA NA PE1 7 +NX_P0CF74 Immunoglobulin lambda constant 6 106 11277 6.91 0 Secreted;Cell membrane NA Constant region of immunoglobulin light chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P0CF75 Endogenous Bornavirus-like nucleoprotein 1 366 40313 7 0 NA NA May act as an RNA-binding protein. Highly homologous to the bornavirus nucleocapsid N protein that binds viral RNA and oligomerizes (By similarity). NA NA NA PE2 10 +NX_P0CF97 Protein FAM200B 657 76034 8.33 0 NA NA NA NA Belongs to the FAM200 family. NA PE1 4 +NX_P0CG00 Putative zinc finger and SCAN domain-containing protein 5D 497 56244 8.95 0 Nucleus NA NA NA NA NA PE5 11 +NX_P0CG01 Gastrokine-3 181 20221 8.64 0 Secreted NA May inhibit gastric epithelial cell proliferation. NA Belongs to the gastrokine family. NA PE3 2 +NX_P0CG04 Immunoglobulin lambda constant 1 106 11348 7.89 0 Secreted;Cell membrane NA Constant region of immunoglobulin light chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P0CG08 Golgi pH regulator B 455 52917 9.34 9 Endoplasmic reticulum;Golgi apparatus membrane NA Voltage dependent anion channel required for acidification and functions of the Golgi apparatus that may function in counter-ion conductance. NA Belongs to the Golgi pH regulator (TC 1.A.38) family. NA PE1 1 +NX_P0CG12 Decreased expression in renal and prostate cancer protein 524 51391 12.42 0 Nucleoplasm;Nucleus NA Potential tumor suppressor. Inhibits prostate tumor cell growth, when overexpressed. NA Belongs to the DERPC family. NA PE1 16 +NX_P0CG13 Chromosome transmission fidelity protein 8 homolog 121 13314 7.9 0 Nucleus NA Chromosome cohesion factor involved in sister chromatid cohesion and fidelity of chromosome transmission. Component of one of the cell nuclear antigen loader complexes, CTF18-replication factor C (CTF18-RFC), which consists of CTF18, CTF8, DCC1, RFC2, RFC3, RFC4 and RFC5. The CTF18-RFC complex binds to single-stranded and primed DNAs and has weak ATPase activity that is stimulated the presence of primed DNA, replication protein A (RPA) and proliferating cell nuclear antigen (PCNA). The CTF18-RFC complex catalyzes the ATP-dependent loading of PCNA onto primed and gapped DNA. It also interacts with and stimulates POLH, which is suggestive of a protein network that coordinates DNA repair, recombination and chromosome cohesion reactions with replication fork progression. NA Belongs to the CTF8 family. NA PE1 16 +NX_P0CG20 Proline-rich protein 35 571 59354 9.16 0 NA NA NA NA NA NA PE1 16 +NX_P0CG21 NHL-repeat-containing protein 4 123 12631 4.78 0 Mitochondrion NA NA NA NA NA PE2 16 +NX_P0CG22 Putative dehydrogenase/reductase SDR family member 4-like 1 281 30608 9.81 0 NA NA Putative oxidoreductase. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. NA PE5 14 +NX_P0CG23 Zinc finger protein 853 659 74878 5.19 0 Nucleolus NA NA NA NA NA PE1 7 +NX_P0CG24 Zinc finger protein 883 379 43967 9.03 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE2 9 +NX_P0CG29 Glutathione S-transferase theta-2 244 27506 6.53 0 Cytoplasm NA Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Has a sulfatase activity. NA Belongs to the GST superfamily. Theta family. Glutathione conjugation PE1 22 +NX_P0CG30 Glutathione S-transferase theta-2B 244 27507 5.99 0 Cytoplasm NA Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Has a sulfatase activity. NA Belongs to the GST superfamily. Theta family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Glutathione conjugation PE1 22 +NX_P0CG31 Putative zinc finger protein 286B 522 59572 8.7 0 Cytosol;Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE5 17 +NX_P0CG32 Zinc finger CCHC domain-containing protein 18 403 45160 7.02 0 Cytoplasmic vesicle NA NA NA Belongs to the ZCCHC12 family. NA PE2 X +NX_P0CG33 Golgin subfamily A member 6D 693 79896 5.37 0 NA NA NA NA Belongs to the GOLGA6 family. NA PE1 15 +NX_P0CG34 Thymosin beta-15A 45 5229 5.31 0 Cytoskeleton NA Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity). NA Belongs to the thymosin beta family. NA PE1 X +NX_P0CG35 Thymosin beta-15B 45 5229 5.31 0 Cytoskeleton NA Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity). May be involved in cell migration. NA Belongs to the thymosin beta family. NA PE1 X +NX_P0CG36 Cryptic family protein 1B 223 24642 9.04 0 Secreted NA NA NA Belongs to the EGF-CFC (Cripto-1/FRL1/Cryptic) family. NA PE2 2 +NX_P0CG37 Cryptic protein 223 24612 9.14 0 Secreted;Cell membrane Heterotaxy, visceral, 2, autosomal NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation. N-glycosylated. Belongs to the EGF-CFC (Cripto-1/FRL1/Cryptic) family. Signaling by NODAL;Regulation of signaling by NODAL PE1 2 +NX_P0CG38 POTE ankyrin domain family member I 1075 121282 5.83 0 NA NA NA NA In the N-terminal section; belongs to the POTE family.;In the C-terminal section; belongs to the actin family. NA PE1 2 +NX_P0CG39 POTE ankyrin domain family member J 1038 117390 5.66 0 NA NA NA NA In the N-terminal section; belongs to the POTE family.;In the C-terminal section; belongs to the actin family. NA PE1 2 +NX_P0CG40 Transcription factor Sp9 484 48915 9.05 0 Mitochondrion;Nucleus NA Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos (By similarity). NA Belongs to the Sp1 C2H2-type zinc-finger protein family. NA PE1 2 +NX_P0CG41 cTAGE family member 8 777 88077 5.23 1 Membrane NA NA NA Belongs to the cTAGE family. NA PE2 7 +NX_P0CG42 Putative protein FAM157B 384 43129 11.41 0 NA NA NA NA Belongs to the FAM157 family. NA PE3 9 +NX_P0CG43 Putative protein FAM157C 387 43408 11.19 0 NA NA NA NA Belongs to the FAM157 family. NA PE3 16 +NX_P0CG47 Polyubiquitin-B 229 25762 6.86 0 Cytoplasm;Nucleus NA Ubiquitin: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in lysosomal degradation; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling. Ubiquitin: Mono-ADP-ribosylated at the C-terminus by PARP9, a component of the PPAR9-DTX3L complex. ADP-ribosylation requires processing by E1 and E2 enzymes and prevents ubiquitin conjugation to substrates such as histones.;Ubiquitin: Phosphorylated at Ser-65 by PINK1 during mitophagy. Phosphorylated ubiquitin specifically binds and activates parkin (PRKN), triggering mitophagy (PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:25527291). Phosphorylation does not affect E1-mediated E2 charging of ubiquitin but affects discharging of E2 enzymes to form polyubiquitin chains. It also affects deubiquitination by deubiquitinase enzymes such as USP30 (PubMed:25527291). Belongs to the ubiquitin family. Parkinson's disease;Activation of NF-kappaB in B cells;ER-Phagosome pathway;SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;ISG15 antiviral mechanism;Translesion Synthesis by POLH;Regulation of PLK1 Activity at G2/M Transition;TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition);Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Downregulation of SMAD2/3:SMAD4 transcriptional activity;NOD1/2 Signaling Pathway;Oxidative Stress Induced Senescence;activated TAK1 mediates p38 MAPK activation;Stimuli-sensing channels;Senescence-Associated Secretory Phenotype (SASP);Amyloid fiber formation;p75NTR recruits signalling complexes;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;Budding and maturation of HIV virion;Membrane binding and targetting of GAG proteins;Endosomal Sorting Complex Required For Transport (ESCRT);Negative regulation of MAPK pathway;Circadian Clock;EGFR downregulation;TCF dependent signaling in response to WNT;Iron uptake and transport;APC/C:Cdc20 mediated degradation of Cyclin B;APC-Cdc20 mediated degradation of Nek2A;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Negative regulators of DDX58/IFIH1 signaling;Downregulation of TGF-beta receptor signaling;Deactivation of the beta-catenin transactivating complex;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Oncogene Induced Senescence;Glycogen synthesis;Myoclonic epilepsy of Lafora;Translesion synthesis by POLI;Termination of translesion DNA synthesis;Translesion synthesis by REV1;Translesion synthesis by POLK;Regulation of FZD by ubiquitination;Regulation of innate immune responses to cytosolic DNA;ER Quality Control Compartment (ERQC);Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;Activated NOTCH1 Transmits Signal to the Nucleus;IKK complex recruitment mediated by RIP1;TRAF6-mediated induction of TAK1 complex within TLR4 complex;Cyclin D associated events in G1;Regulation of signaling by CBL;ABC-family proteins mediated transport;IRAK1 recruits IKK complex;IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation;Constitutive Signaling by NOTCH1 HD Domain Mutants;NOTCH2 Activation and Transmission of Signal to the Nucleus;Spry regulation of FGF signaling;Downregulation of ERBB4 signaling;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;IRAK2 mediated activation of TAK1 complex;IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation;Recognition of DNA damage by PCNA-containing replication complex;Downregulation of ERBB2:ERBB3 signaling;NF-kB is activated and signals survival;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Assembly Of The HIV Virion;NRIF signals cell death from the nucleus;Regulation of necroptotic cell death;Defective CFTR causes cystic fibrosis;Stabilization of p53;N-glycan trimming in the ER and Calnexin/Calreticulin cycle;Pink/Parkin Mediated Mitophagy;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;HDR through Homologous Recombination (HRR);Processing of DNA double-strand break ends;DNA Damage Recognition in GG-NER;Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;MAP3K8 (TPL2)-dependent MAPK1/3 activation;Formation of Incision Complex in GG-NER;Fanconi Anemia Pathway;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1;Regulation of TP53 Activity through Phosphorylation;Regulation of TP53 Degradation;Regulation of TP53 Activity through Methylation;UCH proteinases;Ub-specific processing proteases;Ovarian tumor domain proteases;Josephin domain DUBs;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Metalloprotease DUBs;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Negative regulation of MET activity;Downregulation of ERBB2 signaling;Synthesis of active ubiquitin: roles of E1 and E2 enzymes;E3 ubiquitin ligases ubiquitinate target proteins;InlB-mediated entry of Listeria monocytogenes into host cell;InlA-mediated entry of Listeria monocytogenes into host cells;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;TICAM1, RIP1-mediated IKK complex recruitment;Regulation of PTEN localization;TICAM1-dependent activation of IRF3/IRF7;TICAM1,TRAF6-dependent induction of TAK1 complex;Interleukin-1 signaling;NOTCH3 Activation and Transmission of Signal to the Nucleus;Peroxisomal protein import;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 17 +NX_P0CG48 Polyubiquitin-C 685 77039 7.16 0 Cytoplasm;Nucleus NA Ubiquitin: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in lysosomal degradation; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling. Ubiquitin: Phosphorylated at Ser-65 by PINK1 during mitophagy. Phosphorylated ubiquitin specifically binds and activates parkin (PRKN), triggering mitophagy (PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:25527291). Phosphorylation does not affect E1-mediated E2 charging of ubiquitin but affects discharging of E2 enzymes to form polyubiquitin chains. It also affects deubiquitination by deubiquitinase enzymes such as USP30 (PubMed:25527291).;Ubiquitin: Mono-ADP-ribosylated at the C-terminus by PARP9, a component of the PPAR9-DTX3L complex. ADP-ribosylation requires processing by E1 and E2 enzymes and prevents ubiquitin conjugation to substrates such as histones. Belongs to the ubiquitin family. PPAR signaling pathway;Activation of NF-kappaB in B cells;ER-Phagosome pathway;SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;ISG15 antiviral mechanism;Translesion Synthesis by POLH;Regulation of PLK1 Activity at G2/M Transition;TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition);Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Downregulation of SMAD2/3:SMAD4 transcriptional activity;NOD1/2 Signaling Pathway;Oxidative Stress Induced Senescence;activated TAK1 mediates p38 MAPK activation;Stimuli-sensing channels;Senescence-Associated Secretory Phenotype (SASP);Amyloid fiber formation;p75NTR recruits signalling complexes;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;Budding and maturation of HIV virion;Membrane binding and targetting of GAG proteins;Endosomal Sorting Complex Required For Transport (ESCRT);Negative regulation of MAPK pathway;Circadian Clock;EGFR downregulation;TCF dependent signaling in response to WNT;Iron uptake and transport;APC/C:Cdc20 mediated degradation of Cyclin B;APC-Cdc20 mediated degradation of Nek2A;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Negative regulators of DDX58/IFIH1 signaling;Downregulation of TGF-beta receptor signaling;Deactivation of the beta-catenin transactivating complex;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Oncogene Induced Senescence;Glycogen synthesis;Myoclonic epilepsy of Lafora;Translesion synthesis by POLI;Termination of translesion DNA synthesis;Translesion synthesis by REV1;Translesion synthesis by POLK;Regulation of FZD by ubiquitination;Regulation of innate immune responses to cytosolic DNA;ER Quality Control Compartment (ERQC);Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;Activated NOTCH1 Transmits Signal to the Nucleus;IKK complex recruitment mediated by RIP1;TRAF6-mediated induction of TAK1 complex within TLR4 complex;Cyclin D associated events in G1;Regulation of signaling by CBL;ABC-family proteins mediated transport;IRAK1 recruits IKK complex;IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation;Constitutive Signaling by NOTCH1 HD Domain Mutants;NOTCH2 Activation and Transmission of Signal to the Nucleus;Spry regulation of FGF signaling;Downregulation of ERBB4 signaling;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;IRAK2 mediated activation of TAK1 complex;IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation;Recognition of DNA damage by PCNA-containing replication complex;Downregulation of ERBB2:ERBB3 signaling;NF-kB is activated and signals survival;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Assembly Of The HIV Virion;NRIF signals cell death from the nucleus;Regulation of necroptotic cell death;Defective CFTR causes cystic fibrosis;Stabilization of p53;N-glycan trimming in the ER and Calnexin/Calreticulin cycle;Pink/Parkin Mediated Mitophagy;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;HDR through Homologous Recombination (HRR);Processing of DNA double-strand break ends;DNA Damage Recognition in GG-NER;Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;MAP3K8 (TPL2)-dependent MAPK1/3 activation;Formation of Incision Complex in GG-NER;Fanconi Anemia Pathway;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1;Regulation of TP53 Activity through Phosphorylation;Regulation of TP53 Degradation;Regulation of TP53 Activity through Methylation;UCH proteinases;Ub-specific processing proteases;Ovarian tumor domain proteases;Josephin domain DUBs;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Metalloprotease DUBs;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Negative regulation of MET activity;Downregulation of ERBB2 signaling;Synthesis of active ubiquitin: roles of E1 and E2 enzymes;E3 ubiquitin ligases ubiquitinate target proteins;InlB-mediated entry of Listeria monocytogenes into host cell;InlA-mediated entry of Listeria monocytogenes into host cells;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;TICAM1, RIP1-mediated IKK complex recruitment;Regulation of PTEN localization;TICAM1-dependent activation of IRF3/IRF7;TICAM1,TRAF6-dependent induction of TAK1 complex;Interleukin-1 signaling;NOTCH3 Activation and Transmission of Signal to the Nucleus;Peroxisomal protein import;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 12 +NX_P0CH98 Protein FAM106C 169 18676 5.62 0 NA NA NA NA Belongs to the FAM106 family. NA PE3 17 +NX_P0CH99 Zinc finger protein 705D 300 34712 9.14 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 8 +NX_P0CI00 Putative zinc finger protein 705B 300 34732 9.08 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE5 8 +NX_P0CI01 Speedy protein E6 402 48330 9.78 0 NA NA NA NA Belongs to the Speedy/Ringo family. NA PE2 7 +NX_P0CI25 Tripartite motif-containing protein 49 452 52888 7.53 0 NA NA NA NA Belongs to the TRIM/RBCC family. NA PE1 11 +NX_P0CI26 Tripartite motif-containing protein 49C 452 52933 7.28 0 NA NA NA NA NA NA PE2 11 +NX_P0CJ68 Humanin-like 1 24 2691 9.49 0 Cytoplasm;Secreted NA Plays a role as a neuroprotective and antiapoptotic factor. NA Belongs to the humanin family. NA PE2 17 +NX_P0CJ69 Humanin-like 2 28 3081 7.98 0 Cytoplasm;Secreted NA Plays a role as a neuroprotective and antiapoptotic factor. NA Belongs to the humanin family. NA PE2 5 +NX_P0CJ70 Humanin-like 3 24 2796 10.69 0 Cytoplasm;Secreted NA Plays a role as a neuroprotective and antiapoptotic factor. NA Belongs to the humanin family. NA PE2 20 +NX_P0CJ71 Humanin-like 4 28 3247 9.19 0 Cytoplasm;Secreted NA Plays a role as a neuroprotective and antiapoptotic factor. NA Belongs to the humanin family. NA PE2 16 +NX_P0CJ72 Humanin-like 5 24 2666 7.98 0 Cytoplasm;Secreted NA Plays a role as a neuroprotective and antiapoptotic factor. NA Belongs to the humanin family. NA PE2 10 +NX_P0CJ73 Humanin-like 6 24 2719 9.49 0 Cytoplasm;Secreted NA Plays a role as a neuroprotective and antiapoptotic factor. NA Belongs to the humanin family. NA PE2 7 +NX_P0CJ74 Humanin-like 7 24 2647 7.98 0 Cytoplasm;Secreted NA Plays a role as a neuroprotective and antiapoptotic factor. NA Belongs to the humanin family. NA PE2 10 +NX_P0CJ75 Humanin-like 8 24 2661 9.49 0 Cytoplasm;Secreted NA Plays a role as a neuroprotective and antiapoptotic factor. NA Belongs to the humanin family. NA PE2 11 +NX_P0CJ76 Humanin-like 9 24 2694 11.54 0 Cytoplasm;Secreted NA Plays a role as a neuroprotective and antiapoptotic factor. NA Belongs to the humanin family. NA PE2 6 +NX_P0CJ77 Humanin-like 10 24 2806 10.69 0 Cytoplasm;Secreted NA Plays a role as a neuroprotective and antiapoptotic factor. NA Belongs to the humanin family. NA PE2 X +NX_P0CJ78 Zinc finger protein 865 1059 111077 9.4 0 Nucleoplasm;Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_P0CJ79 Zinc finger protein 888 718 83549 9.33 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_P0CJ85 Double homeobox protein 4-like protein 2 424 44926 8.72 0 Nucleus NA May be involved in transcriptional regulation. NA NA NA PE3 4 +NX_P0CJ86 Double homeobox protein 4-like protein 3 424 44926 8.72 0 Nucleus NA May be involved in transcriptional regulation. NA NA NA PE3 4 +NX_P0CJ87 Double homeobox protein 4-like protein 4 422 44826 8.36 0 Nucleus NA May be involved in transcriptional regulation. NA NA NA PE3 4 +NX_P0CJ88 Double homeobox protein 4-like protein 5 424 44926 8.72 0 Nucleus NA May be involved in transcriptional regulation. NA NA NA PE3 4 +NX_P0CJ89 Double homeobox protein 4-like protein 6 424 44926 8.72 0 Nucleus NA May be involved in transcriptional regulation. NA NA NA PE3 4 +NX_P0CJ90 Double homeobox protein 4-like protein 7 424 44926 8.72 0 Nucleus NA May be involved in transcriptional regulation. NA NA NA PE3 4 +NX_P0CJ92 Golgin subfamily A member 8H 632 71342 8.15 0 NA NA NA NA Belongs to the GOLGA8 family. NA PE2 15 +NX_P0CK96 Solute carrier family 35 member E2B 405 43777 8.65 10 Membrane NA Putative transporter. NA Belongs to the TPT transporter family. SLC35E subfamily. NA PE1 1 +NX_P0CK97 Solute carrier family 35 member E2A 266 29079 8.28 4 Membrane;Nucleoplasm NA Putative transporter. NA Belongs to the TPT transporter family. SLC35E subfamily. NA PE2 1 +NX_P0CL80 G antigen 12F 117 12978 4.3 0 NA NA NA NA Belongs to the GAGE family. NA PE1 X +NX_P0CL81 G antigen 12G 117 12978 4.3 0 NA NA NA NA Belongs to the GAGE family. NA PE1 X +NX_P0CL82 G antigen 12I 117 12978 4.3 0 NA NA NA NA Belongs to the GAGE family. NA PE1 X +NX_P0CL83 Putative STAG3-like protein 1 205 23775 7.61 0 Nucleus NA NA NA Belongs to the SCC3 family. NA PE5 7 +NX_P0CL84 Putative STAG3-like protein 2 134 15630 8.27 0 Nucleus NA NA NA Belongs to the SCC3 family. NA PE5 7 +NX_P0CL85 STAG3-like protein 3 134 15609 7.57 0 Nucleus NA NA NA Belongs to the SCC3 family. NA PE2 7 +NX_P0CV98 Testis-specific Y-encoded protein 3 308 35101 5.23 0 NA NA NA NA Belongs to the nucleosome assembly protein (NAP) family. NA PE1 Y +NX_P0CV99 Testis-specific Y-encoded protein 4 314 35727 5.12 0 NA NA NA NA Belongs to the nucleosome assembly protein (NAP) family. NA PE2 Y +NX_P0CW00 Testis-specific Y-encoded protein 8 308 35147 5.16 0 NA NA NA NA Belongs to the nucleosome assembly protein (NAP) family. NA PE2 Y +NX_P0CW01 Testis-specific Y-encoded protein 10 308 35101 5.23 0 NA NA NA NA Belongs to the nucleosome assembly protein (NAP) family. NA PE2 Y +NX_P0CW18 Serine protease 56 603 64597 9.15 0 NA Microphthalmia, isolated, 6 Serine protease required during eye development. NA Belongs to the peptidase S1 family. NA PE1 2 +NX_P0CW19 LIM and senescent cell antigen-like-containing domain protein 3 117 13251 5.38 0 Cytoplasm NA NA NA NA NA PE2 2 +NX_P0CW20 LIM and senescent cell antigen-like-containing domain protein 4 117 13251 5.38 0 NA NA NA NA NA NA PE1 2 +NX_P0CW21 Putative uncharacterized protein SPART-AS1 52 6167 9.69 0 NA NA NA NA NA NA PE5 13 +NX_P0CW23 A-kinase anchor protein inhibitor 1 69 7848 6.73 0 NA NA Protein kinase A (PKA)-binding protein. Binds to type II regulatory subunits of protein kinase A (PKA) and may block the A-kinase anchoring protein (AKAP)-mediated subcellular localization of PKA (PubMed:25653177). NA NA NA PE1 18 +NX_P0CW24 Paraneoplastic antigen-like protein 6A 399 43875 5.24 0 Mitochondrion;Nucleolus NA NA NA Belongs to the PNMA family. NA PE1 X +NX_P0CW27 Coiled-coil domain-containing protein 166 439 48709 10.6 0 NA NA NA NA NA NA PE1 8 +NX_P0CZ25 Uncharacterized protein DNAH10OS 163 17537 9.57 0 NA NA NA NA NA NA PE2 12 +NX_P0DH78 RING finger protein 224 156 16549 7.43 0 NA NA NA NA NA NA PE2 9 +NX_P0DI80 Small integral membrane protein 6 62 7017 3.72 1 Membrane;Nucleoplasm NA NA NA NA NA PE2 17 +NX_P0DI81 Trafficking protein particle complex subunit 2 140 16445 6.02 0 Cytoplasm;Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum;Nucleoplasm;Cytoplasmic vesicle;Perinuclear region;Nucleus Spondyloepiphyseal dysplasia tarda Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role in vesicular transport from endoplasmic reticulum to Golgi. NA Belongs to the TRAPP small subunits family. Sedlin subfamily. COPII-mediated vesicle transport;RAB GEFs exchange GTP for GDP on RABs PE1 X +NX_P0DI82 Trafficking protein particle complex subunit 2B 140 16445 6.02 0 Cytoplasm;Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum;Nucleoplasm;Cytoplasmic vesicle;Perinuclear region;Nucleus NA Prevents transcriptional repression and induction of cell death by ENO1. May play a role in vesicular transport from endoplasmic reticulum to Golgi. NA Belongs to the TRAPP small subunits family. Sedlin subfamily. NA PE1 19 +NX_P0DI83 Ras-related protein Rab-34, isoform NARR 198 21118 12.15 0 Nucleus;Nucleolus NA NA Phosphorylated during M-phase. NA NA PE1 17 +NX_P0DJ07 Protein PET100 homolog, mitochondrial 73 9114 6.31 1 Membrane;Nucleoplasm;Mitochondrion NA NA NA Belongs to the PET100 family. NA PE1 19 +NX_P0DJ93 Small integral membrane protein 13 91 10351 6.17 1 Membrane;Nucleoplasm;Golgi apparatus;Nucleus membrane NA NA NA Belongs to the SMIM13 family. NA PE1 6 +NX_P0DJD0 RANBP2-like and GRIP domain-containing protein 1 1748 196662 5.8 0 NA NA NA NA NA NA PE2 2 +NX_P0DJD1 RANBP2-like and GRIP domain-containing protein 2 1756 197308 5.85 0 NA NA NA NA NA NA PE1 2 +NX_P0DJD3 RNA-binding motif protein, Y chromosome, family 1 member A1 496 55784 9.95 0 Nucleus NA RNA-binding protein involved in pre-mRNA splicing. Required for sperm development. Acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN. Binds non-specifically to mRNAs. NA NA NA PE1 Y +NX_P0DJD4 RNA-binding motif protein, Y chromosome, family 1 member C 496 55784 9.93 0 Nucleus NA RNA-binding protein involved in pre-mRNA splicing. Required for sperm development. Acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN. Binds non-specifically to mRNAs. NA NA NA PE1 Y +NX_P0DJD7 Pepsin A-4 388 41977 4.16 0 Secreted NA Shows particularly broad specificity; although bonds involving phenylalanine and leucine are preferred, many others are also cleaved to some extent. NA Belongs to the peptidase A1 family. Surfactant metabolism PE1 11 +NX_P0DJD8 Pepsin A-3 388 41976 4.22 0 Secreted NA Shows particularly broad specificity; although bonds involving phenylalanine and leucine are preferred, many others are also cleaved to some extent. NA Belongs to the peptidase A1 family. Surfactant metabolism PE1 11 +NX_P0DJD9 Pepsin A-5 388 41993 4.21 0 Secreted NA Shows particularly broad specificity; although bonds involving phenylalanine and leucine are preferred, many others are also cleaved to some extent. NA Belongs to the peptidase A1 family. Surfactant metabolism PE1 11 +NX_P0DJG4 Testicular haploid expressed gene protein-like 465 53028 9.33 0 NA NA NA NA NA NA PE1 4 +NX_P0DJH9 Protein RD3-like 198 23209 5.98 0 NA NA NA NA NA NA PE2 14 +NX_P0DJI8 Serum amyloid A-1 protein 122 13532 6.28 0 Secreted NA Major acute phase protein. This protein is the precursor of amyloid protein A, which is formed by the removal of approximately 24 residues from the C-terminal end. Belongs to the SAA family. G alpha (i) signalling events;G alpha (q) signalling events;Advanced glycosylation endproduct receptor signaling;Amyloid fiber formation;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated NF-kB activation;Formyl peptide receptors bind formyl peptides and many other ligands;Scavenging by Class B Receptors;Interleukin-4 and Interleukin-13 signaling PE1 11 +NX_P0DJI9 Serum amyloid A-2 protein 122 13527 9.2 0 Secreted NA Major acute phase reactant. Apolipoprotein of the HDL complex. This protein is the precursor of amyloid protein A, which is formed by the removal of approximately 24 residues from the C-terminal end. Belongs to the SAA family. NA PE1 11 +NX_P0DJJ0 SLIT-ROBO Rho GTPase-activating protein 2C 459 53484 5.98 0 NA NA Involved in dendritic spine maturation through interaction with and inhibition of SRGAP2. Reduces the rate of spine maturation and indirectly increases neuronal migration. Changes dendritic spine morphology and density and may have implications for cognition, learning and memory. NA NA NA PE1 1 +NX_P0DJR0 GTPase IMAP family member GIMD1 217 24463 8.18 0 NA NA NA NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase family. IAN subfamily. NA PE1 4 +NX_P0DKB5 Trophoblast glycoprotein-like 382 40400 8.64 1 Membrane NA NA NA NA NA PE1 11 +NX_P0DKB6 Mitochondrial pyruvate carrier 1-like protein 136 15138 9.95 2 Membrane NA NA NA Belongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family. NA PE1 X +NX_P0DKL9 ARL14 effector protein-like 152 17712 8.71 0 NA NA NA NA NA NA PE1 5 +NX_P0DKV0 Putative spermatogenesis-associated protein 31C1 1188 130522 9.52 1 Membrane NA May play a role in spermatogenesis. NA Belongs to the SPATA31 family. NA PE5 9 +NX_P0DKX0 Zinc finger protein 728 622 71801 9.32 0 NA NA NA NA NA NA PE2 19 +NX_P0DKX4 Small integral membrane protein 18 95 11088 6.7 1 Membrane;Nucleoplasm;Centrosome NA NA NA NA NA PE2 8 +NX_P0DL12 Small integral membrane protein 17 118 13332 4.56 1 Membrane;Cytoplasmic vesicle NA NA NA NA NA PE2 19 +NX_P0DM35 Metallothionein 1H-like protein 1 61 6094 8.75 0 NA NA Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. NA Belongs to the metallothionein superfamily. Type 1 family. NA PE2 1 +NX_P0DM63 Nuclear pore complex-interacting protein family member A8 369 42230 9.22 0 NA NA NA NA Belongs to the NPIP family. NA PE2 16 +NX_P0DMB1 Proline-rich protein 23D2 279 31050 6.08 0 NA NA NA NA Belongs to the PRR23 family. NA PE2 8 +NX_P0DMB2 Uncharacterized protein C8orf88 117 13372 9.81 0 NA NA NA NA NA NA PE1 8 +NX_P0DMC3 Apelin receptor early endogenous ligand 54 6622 12.22 0 Secreted;Extracellular space NA Endogenous ligand for the apelin receptor (APLNR) (PubMed:25639753, PubMed:28137936). Hormone required for mesendodermal differentiation, blood vessels formation and heart morphogenesis during early development and for adult cardiovascular homeostasis (PubMed:25639753, PubMed:28137936). Drives internalization of APLNR. Acts as a motogen by promoting mesendodermal cell migration during gastrulation by binding and activating APLNR. Acts as an early embryonic regulator of cellular movement with a role in migration and development of cardiac progenitor cells. May act as a chemoattractant for the activation of angioblast migration toward the embryonic midline, i.e. The position of the future vessel formation, during vasculogenesis. Positively regulates sinus venosus (SV)-derived endothelial cells migration into the developing heart to promote coronary blood vessel sprouting. Plays a role in placental vascular development; promotes placental trophoblast invasion and spiral artery remodeling in the uterus. Involved in the regulation of maternal cardiovascular homeostasis to prevent gestational hypertension and for potent cardioprotective functions during heart failure. Mediates myocardial contractility in an ERK1/2-dependent manner (By similarity). NA Belongs to the Elabela/Toddler family. NA PE1 4 +NX_P0DME0 Protein SETSIP 302 34882 4.2 0 Cytoplasm;Nucleus NA Plays a role as a transcriptional activator involved in the early stage of somatic cell reprogramming. Promotes the differentiation of protein-induced pluripotent stem (PiPS) cells into endothelial cells and the formation of vascular-like tubes (in vitro). Involved in the transcription induction of vascular endothelial-cadherin (VE-cadherin) expression. Associates to the VE-cadherin gene promoter. NA Belongs to the nucleosome assembly protein (NAP) family. NA PE1 1 +NX_P0DML2 Chorionic somatomammotropin hormone 1 217 25020 5.34 0 Secreted NA Produced only during pregnancy and is involved in stimulating lactation, fetal growth and metabolism. Does not interact with GHR but only activates PRLR through zinc-induced dimerization. NA Belongs to the somatotropin/prolactin family. Prolactin receptor signaling;Growth hormone receptor signaling PE1 17 +NX_P0DML3 Chorionic somatomammotropin hormone 2 217 24994 5.34 0 Secreted NA Produced only during pregnancy and is involved in stimulating lactation, fetal growth and metabolism. Does not interact with GHR but only activates PRLR through zinc-induced dimerization. NA Belongs to the somatotropin/prolactin family. NA PE1 17 +NX_P0DMM9 Sulfotransferase 1A3 295 34196 5.68 0 Cytoplasm NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic monoamines (neurotransmitters such as dopamine, norepinephrine and serotonin) and phenolic and catechol drugs. The N-terminus is blocked. Belongs to the sulfotransferase 1 family. XBP1(S) activates chaperone genes;Cytosolic sulfonation of small molecules PE1 16 +NX_P0DMN0 Sulfotransferase 1A4 295 34196 5.68 0 Cytoplasm NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic monoamines (neurotransmitters such as dopamine, norepinephrine and serotonin) and phenolic and catechol drugs. The N-terminus is blocked. Belongs to the sulfotransferase 1 family. Cytosolic sulfonation of small molecules PE1 16 +NX_P0DMP1 Humanin-like 12 27 2961 9.49 0 Cytoplasm;Secreted NA Plays a role as a neuroprotective and antiapoptotic factor. NA Belongs to the humanin family. NA PE2 3 +NX_P0DMP2 SLIT-ROBO Rho GTPase-activating protein 2B 458 53406 6.46 0 NA NA May regulate cell migration and differentiation through interaction with and inhibition of SRGAP2. NA NA NA PE2 1 +NX_P0DMQ5 Putative transmembrane protein INAFM2 153 15439 9.3 1 Membrane NA NA NA NA NA PE1 15 +NX_P0DMQ9 Putative uncharacterized protein C8orf89 161 18160 9.49 0 NA NA NA NA NA NA PE2 8 +NX_P0DMR1 Heterogeneous nuclear ribonucleoprotein C-like 4 293 32029 5.48 0 Nucleus NA NA NA Belongs to the RRM HNRPC family. RALY subfamily. NA PE1 1 +NX_P0DMR2 Secretoglobin family 1C member 2 95 10457 4.7 0 Secreted NA NA NA Belongs to the secretoglobin family. NA PE2 17 +NX_P0DMR3 Putative protein ATXN8OS 200 22759 8.47 0 Cytoplasm NA NA NA NA NA PE5 13 +NX_P0DMS8 Adenosine receptor A3 318 36185 9.11 7 Cell membrane NA Receptor for adenosine. The activity of this receptor is mediated by G proteins which inhibits adenylyl cyclase (PubMed:8234299). NA Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;Adenosine P1 receptors PE1 1 +NX_P0DMS9 Transmembrane domain-containing protein TMIGD3 266 30327 8.9 2 Membrane NA Plays a suppressive role in osteosarcoma malignancy by inhibiting NF-kappa-B activity (PubMed:27886186). NA NA NA PE1 1 +NX_P0DMT0 Myoregulin 46 5194 5.97 1 Sarcoplasmic reticulum membrane NA Inhibits the activity of ATP2A1/SERCA1 ATPase in sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+), thereby acting as a key regulator of skeletal muscle activity. Its high expression in adult skeletal muscle, suggests that it constitutes the predominant regulator of ATP2A1/SERCA1 in adult skeletal muscle. NA NA NA PE2 10 +NX_P0DMU2 Putative olfactory receptor 8G3 pseudogene 310 34506 7.57 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE5 11 +NX_P0DMU3 FAM231A/C-like protein LOC102723383 169 18266 8.91 0 Cytoskeleton NA NA NA Belongs to the FAM231 family. NA PE3 1 +NX_P0DMU7 Cancer/testis antigen family 45 member A6 189 21232 9.72 0 NA NA NA NA Belongs to the CT45 family. NA PE2 X +NX_P0DMU8 Cancer/testis antigen family 45 member A5 189 21232 9.72 0 NA NA NA NA Belongs to the CT45 family. NA PE2 X +NX_P0DMU9 Cancer/testis antigen family 45 member A10 189 21145 9.61 0 NA NA NA NA Belongs to the CT45 family. NA PE1 X +NX_P0DMV0 Cancer/testis antigen family 45 member A7 189 21232 9.72 0 NA NA NA NA Belongs to the CT45 family. NA PE2 X +NX_P0DMV1 Cancer/testis antigen family 45 member A8 189 21363 9.67 0 NA NA NA NA Belongs to the CT45 family. NA PE2 X +NX_P0DMV2 Cancer/testis antigen family 45 member A9 189 21363 9.67 0 NA NA NA NA Belongs to the CT45 family. NA PE2 X +NX_P0DMV8 Heat shock 70 kDa protein 1A 641 70052 5.48 0 Cytoplasm;Centrosome;Nucleus NA (Microbial infection) In case of rotavirus A infection, serves as a post-attachment receptor for the virus to facilitate entry into the cell.;Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones. The co-chaperones have been shown to not only regulate different steps of the ATPase cycle, but they also have an individual specificity such that one co-chaperone may promote folding of a substrate while another may promote degradation. The affinity for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. It goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release. The co-chaperones are of three types: J-domain co-chaperones such as HSP40s (stimulate ATPase hydrolysis by HSP70), the nucleotide exchange factors (NEF) such as BAG1/2/3 (facilitate conversion of HSP70 from the ADP-bound to the ATP-bound state thereby promoting substrate release), and the TPR domain chaperones such as HOPX and STUB1 (PubMed:24012426, PubMed:26865365, PubMed:24318877). Maintains protein homeostasis during cellular stress through two opposing mechanisms: protein refolding and degradation. Its acetylation/deacetylation state determines whether it functions in protein refolding or protein degradation by controlling the competitive binding of co-chaperones HOPX and STUB1. During the early stress response, the acetylated form binds to HOPX which assists in chaperone-mediated protein refolding, thereafter, it is deacetylated and binds to ubiquitin ligase STUB1 that promotes ubiquitin-mediated protein degradation (PubMed:27708256). Regulates centrosome integrity during mitosis, and is required for the maintenance of a functional mitotic centrosome that supports the assembly of a bipolar mitotic spindle (PubMed:27137183). Enhances STUB1-mediated SMAD3 ubiquitination and degradation and facilitates STUB1-mediated inhibition of TGF-beta signaling (PubMed:24613385). Essential for STUB1-mediated ubiquitination and degradation of FOXP3 in regulatory T-cells (Treg) during inflammation (PubMed:23973223). Negatively regulates heat shock-induced HSF1 transcriptional activity during the attenuation and recovery phase period of the heat shock response (PubMed:9499401). In response to cellular stress, acetylated at Lys-77 by NA110 and then gradually deacetylated by HDAC4 at later stages. Acetylation enhances its chaperone activity and also determines whether it will function as a chaperone for protein refolding or degradation by controlling its binding to co-chaperones HOPX and STUB1. The acetylated form and the non-acetylated form bind to HOPX and STUB1 respectively. Acetylation also protects cells against various types of cellular stress.;HSPA1A is phosphorylated by ABL2 (Phosphotyrosine:PTM-0255) Belongs to the heat shock protein 70 family. AUF1 (hnRNP D0) binds and destabilizes mRNA;Regulation of HSF1-mediated heat shock response;Attenuation phase;HSF1-dependent transactivation;Viral RNP Complexes in the Host Cell Nucleus;Neutrophil degranulation;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 6 +NX_P0DMV9 Heat shock 70 kDa protein 1B 641 70052 5.48 0 Cytoplasm;Centrosome NA Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones. The co-chaperones have been shown to not only regulate different steps of the ATPase cycle, but they also have an individual specificity such that one co-chaperone may promote folding of a substrate while another may promote degradation. The affinity for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. It goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release. The co-chaperones are of three types: J-domain co-chaperones such as HSP40s (stimulate ATPase hydrolysis by HSP70), the nucleotide exchange factors (NEF) such as BAG1/2/3 (facilitate conversion of HSP70 from the ADP-bound to the ATP-bound state thereby promoting substrate release), and the TPR domain chaperones such as HOPX and STUB1 (PubMed:24012426, PubMed:26865365, PubMed:24318877). Maintains protein homeostasis during cellular stress through two opposing mechanisms: protein refolding and degradation. Its acetylation/deacetylation state determines whether it functions in protein refolding or protein degradation by controlling the competitive binding of co-chaperones HOPX and STUB1. During the early stress response, the acetylated form binds to HOPX which assists in chaperone-mediated protein refolding, thereafter, it is deacetylated and binds to ubiquitin ligase STUB1 that promotes ubiquitin-mediated protein degradation (PubMed:27708256). Regulates centrosome integrity during mitosis, and is required for the maintenance of a functional mitotic centrosome that supports the assembly of a bipolar mitotic spindle (PubMed:27137183). Enhances STUB1-mediated SMAD3 ubiquitination and degradation and facilitates STUB1-mediated inhibition of TGF-beta signaling (PubMed:24613385). Essential for STUB1-mediated ubiquitination and degradation of FOXP3 in regulatory T-cells (Treg) during inflammation (PubMed:23973223).;(Microbial infection) In case of rotavirus A infection, serves as a post-attachment receptor for the virus to facilitate entry into the cell. In response to cellular stress, acetylated at Lys-77 by NA110 and then gradually deacetylated by HDAC4 at later stages. Acetylation enhances its chaperone activity and also determines whether it will function as a chaperone for protein refolding or degradation by controlling its binding to co-chaperones HOPX and STUB1. The acetylated form and the non-acetylated form bind to HOPX and STUB1 respectively. Acetylation also protects cells against various types of cellular stress. Belongs to the heat shock protein 70 family. Regulation of HSF1-mediated heat shock response;Attenuation phase;HSF1-dependent transactivation;Neutrophil degranulation;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 6 +NX_P0DMW2 NLR family pyrin domain-containing protein 2B 45 4993 5.92 0 Cytoplasm;Nucleus NA May function as a negative regulator of NF-kappa-B by preventing RELA/p65 phosphorylation at 'Ser-536', thereby inhibiting its transcriptional activity. Through NF-kappa-B regulation may control cytokine release upon Toll-like receptors activation and therefore play a role in modulation of innate immunity. May also play a role in cell cycle progression and apoptotic process. NA NA NA PE2 X +NX_P0DMW3 Small integral membrane protein 10-like protein 1 68 7391 10.02 0 NA NA NA NA NA NA PE1 12 +NX_P0DMW4 Small integral membrane protein 10-like protein 2A 78 8389 11.25 0 NA NA NA NA NA NA PE2 X +NX_P0DMW5 Small integral membrane protein 10-like protein 2B 78 8389 11.25 0 NA NA NA NA NA NA PE2 X +NX_P0DN24 Uncharacterized protein C3orf86 101 10933 7.77 0 NA NA NA NA NA NA PE1 3 +NX_P0DN25 C1GALT1-specific chaperone 1-like protein 315 36396 5.41 1 Membrane NA NA NA Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily. NA PE2 2 +NX_P0DN26 Peptidyl-prolyl cis-trans isomerase A-like 4F 164 18197 9.43 0 Cytoplasm NA PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity). NA Belongs to the cyclophilin-type PPIase family. PPIase A subfamily. NA PE3 1 +NX_P0DN37 Peptidyl-prolyl cis-trans isomerase A-like 4G 164 18166 9.19 0 Cytoplasm NA PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity). NA Belongs to the cyclophilin-type PPIase family. PPIase A subfamily. NA PE2 1 +NX_P0DN76 Splicing factor U2AF 35 kDa subunit-like protein 240 27872 9.09 0 Nucleoplasm;Nucleus speckle;Nucleus NA Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron. NA Belongs to the splicing factor SR family. NA PE1 21 +NX_P0DN77 Medium-wave-sensitive opsin 2 364 40584 8.9 7 Cell membrane NA Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal. Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.;N-glycosylated. O-glycosylated. Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. NA PE2 X +NX_P0DN78 Medium-wave-sensitive opsin 3 364 40584 8.9 7 Cell membrane NA Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal. N-glycosylated. O-glycosylated.;Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region. Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. NA PE2 X +NX_P0DN79 Cystathionine beta-synthase-like protein 551 60587 6.2 0 Cytoplasmic vesicle;Nucleus;Cytoplasm;Nucleolus NA Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine. Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons. NA Belongs to the cysteine synthase/cystathionine beta-synthase family. Amino-acid biosynthesis; L-cysteine biosynthesis; L-cysteine from L-homocysteine and L-serine: step 1/2.;Cysteine formation from homocysteine PE1 21 +NX_P0DN80 Olfactory receptor 5H8 308 34772 7.05 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE3 3 +NX_P0DN81 Olfactory receptor 13C7 318 34899 9.01 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE3 9 +NX_P0DN82 Olfactory receptor 12D1 309 35330 9.29 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE3 6 +NX_P0DN84 Sarcoplasmic/endoplasmic reticulum calcium ATPase regulator DWORF 35 3836 6.5 1 Sarcoplasmic reticulum membrane NA Enhances the activity of ATP2A1/SERCA1 ATPase in sarcoplasmic reticulum by displacing ATP2A1/SERCA1 inhibitors, thereby acting as a key regulator of skeletal muscle activity. Does not directly stimulate SERCA pump activity. Enhances sarcoplasmic reticulum Ca(2+) uptake and myocyte contractility by displacing the SERCA inhibitory peptides sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN). NA NA NA PE2 3 +NX_P0DN86 Choriogonadotropin subunit beta 3 165 17739 8.49 0 Secreted NA Beta subunit of the human chorionic gonadotropin (hCG). HCG is a complex glycoprotein composed of two glycosylated subunits alpha and beta which are non-covalently associated. The alpha subunit is identical to those in the pituitary gonadotropin hormones (LH, FSH and TSH). The beta subunits are distinct in each of the hormones and confer receptor and biological specificity. Has an essential role in pregnancy and maternal adaptation. Stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. NA Belongs to the glycoprotein hormones subunit beta family. Glycoprotein hormones;TFAP2 (AP-2) family regulates transcription of growth factors and their receptors PE1 19 +NX_P0DN87 Choriogonadotropin subunit beta 7 165 17757 8.66 0 Secreted NA Beta subunit of the human chorionic gonadotropin (hCG). HCG is a complex glycoprotein composed of two glycosylated subunits alpha and beta which are non-covalently associated. The alpha subunit is identical to those in the pituitary gonadotropin hormones (LH, FSH and TSH). The beta subunits are distinct in each of the hormones and confer receptor and biological specificity. Has an essential role for pregnancy and maternal adaptation. Stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. NA Belongs to the glycoprotein hormones subunit beta family. NA PE2 19 +NX_P0DO92 Putative protein T-ENOL 83 9002 8.53 0 NA NA NA NA NA NA PE1 16 +NX_P0DO97 Coiled-coil domain-containing protein 192 292 32479 4.98 0 NA NA NA NA NA NA PE1 5 +NX_P0DOY2 Immunoglobulin lambda constant 2 106 11294 6.91 0 Secreted;Cell membrane NA Constant region of immunoglobulin light chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P0DOY3 Immunoglobulin lambda constant 3 106 11266 6.91 0 Secreted;Cell membrane NA Constant region of immunoglobulin light chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P0DOY5 Immunoglobulin heavy diversity 1-1 5 435 5.53 0 Secreted;Cell membrane NA D region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE4 14 +NX_P0DP01 Immunoglobulin heavy variable 1-8 117 12992 9.26 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_P0DP02 Immunoglobulin heavy variable 3-30-3 117 12989 9.12 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE3 14 +NX_P0DP03 Immunoglobulin heavy variable 3-30-5 117 12947 9.1 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE3 14 +NX_P0DP04 Immunoglobulin heavy variable 3-43D 118 13017 5.28 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE3 14 +NX_P0DP06 Immunoglobulin heavy variable 4-30-4 118 13156 9.33 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE3 14 +NX_P0DP07 Immunoglobulin heavy variable 4-31 118 13095 9.33 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_P0DP08 Immunoglobulin heavy variable 4-38-2 117 13016 9.36 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 14 +NX_P0DP09 Immunoglobulin kappa variable 1-13 117 12569 7.68 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA NA PE1 2 +NX_P0DP23 Calmodulin-1 149 16838 4.09 0 Cytoplasmic vesicle;Spindle pole;Spindle;Centrosome Long QT syndrome 14;Ventricular tachycardia, catecholaminergic polymorphic, 4 (Microbial infection) Required for Legionella pneumophila SidJ glutamylase activity.;Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis (PubMed:16760425). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696). Phosphorylation results in a decreased activity.;Ubiquitination results in a strongly decreased activity. Belongs to the calmodulin family. RAF/MAP kinase cascade;Ion transport by P-type ATPases;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Uptake and function of anthrax toxins;FCERI mediated Ca+2 mobilization;VEGFR2 mediated vascular permeability;Stimuli-sensing channels;Unblocking of NMDA receptors, glutamate binding and activation;CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde;Ras activation upon Ca2+ influx through NMDA receptor;Transcriptional activation of mitochondrial biogenesis;RAF activation;Inactivation, recovery and regulation of the phototransduction cascade;Platelet degranulation;PKA activation;DARPP-32 events;Ca2+ pathway;Reduction of cytosolic Ca++ levels;Sodium/Calcium exchangers;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Synthesis of IP3 and IP4 in the cytosol;eNOS activation;Smooth Muscle Contraction;Glycogen breakdown (glycogenolysis);VEGFR2 mediated cell proliferation;Activation of Ca-permeable Kainate Receptor;RHO GTPases activate IQGAPs;RHO GTPases activate PAKs;Calmodulin induced events;CREB1 phosphorylation through the activation of Adenylate Cyclase;Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation;CLEC7A (Dectin-1) induces NFAT activation;Cam-PDE 1 activation;CaMK IV-mediated phosphorylation of CREB;CaM pathway;Phase 0 - rapid depolarisation;Ion homeostasis;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;Protein methylation;Calcineurin activates NFAT;Regulation of MECP2 expression and activity;Loss of phosphorylation of MECP2 at T308;Negative regulation of NMDA receptor-mediated neuronal transmission;Long-term potentiation;Extra-nuclear estrogen signaling;Activation of AMPK downstream of NMDARs;Activation of RAC1 downstream of NMDARs PE1 14 +NX_P0DP24 Calmodulin-2 149 16838 4.09 0 Spindle pole;Spindle;Centrosome Long QT syndrome 15 Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis (PubMed:16760425). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696). Phosphorylation results in a decreased activity.;Ubiquitination results in a strongly decreased activity. Belongs to the calmodulin family. NA PE1 2 +NX_P0DP25 Calmodulin-3 149 16838 4.09 0 Spindle pole;Spindle;Centrosome NA Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis. Ubiquitination results in a strongly decreased activity.;Phosphorylation results in a decreased activity. Belongs to the calmodulin family. NA PE1 19 +NX_P0DP42 Transmembrane protein 225B 221 25027 5.35 4 Membrane NA NA NA NA NA PE1 7 +NX_P0DP57 Secreted Ly-6/uPAR domain-containing protein 2 97 10160 6.14 0 Secreted NA Binds and may modulate the functional properties of nicotinic and muscarinic acetylcholine receptors. May regulate keratinocytes proliferation, differentiation and apoptosis. In vitro moderately inhibits ACh-evoked currents of alpha-3:beta-2-containing nAChRs and strongly these of alpha-4:beta-2-containing nAChRs, modulates alpha-7-containing nAChRs, and inhibits nicotine-induced signaling probably implicating alpha-3:beta-4-containing nAChRs. Proposed to act on alpha-3:beta-2 and alpha-7 nAChRs in an orthosteric, and on mAChRs, such as CHRM1 and CHRM3, in an allosteric manner. NA NA NA PE1 8 +NX_P0DP58 Ly-6/neurotoxin-like protein 1 116 12641 8.04 0 Endoplasmic reticulum;Dendrite;Cell membrane NA Acts in different tissues through interaction to nicotinic acetylcholine receptors (nAChRs) (PubMed:21252236). The proposed role as modulator of nAChR activity seems to be dependent on the nAChR subtype and stoichiometry, and to involve an effect on nAChR trafficking and its cell surface expression, and on single channel properties of the nAChR inserted in the plasma membrane. Modulates functional properties of nicotinic acetylcholine receptors (nAChRs) to prevent excessive excitation, and hence neurodegeneration. Enhances desensitization by increasing both the rate and extent of desensitization of alpha-4:beta-2-containing nAChRs and slowing recovery from desensitization. Promotes large amplitude ACh-evoked currents through alpha-4:beta-2 nAChRs. Is involved in regulation of the nAChR pentameric assembly in the endoplasmic reticulum. Shifts stoichiometry from high sensitivity alpha-4(2):beta-2(3) to low sensitivity alpha-4(3):beta-2(2) nAChR (By similarity). In vitro modulates alpha-3:beta-4-containing nAChRs. Reduces cell surface expression of (alpha-3:beta-4)(2):beta-4 and (alpha-3:beta-4)(2):alpha-5 nAChRs suggesting an interaction with nAChR alpha-3(-):(+)beta-4 subunit interfaces and an allosteric mode. Corresponding single channel effects characterized by decreased unitary conductance, altered burst proportions and enhanced desensitization/inactivation seem to depend on nAChR alpha:alpha subunit interfaces and are greater in (alpha-3:beta-2)(2):alpha-3 when compared to (alpha-3:beta-2)(2):alpha-5 nAChRs (PubMed:28100642). Prevents plasticity in the primary visual cortex late in life (By similarity). NA NA NA PE1 8 +NX_P0DP71 Protein FAM236C 79 8682 8.8 0 NA NA NA NA Belongs to the FAM236 family. NA PE2 X +NX_P0DP72 V-set and immunoglobulin domain-containing protein 10-like 2 767 81629 5.95 1 Membrane NA NA NA NA NA PE2 11 +NX_P0DP73 Beta-defensin 130B 79 8736 9.47 0 Secreted NA Antimicrobial host-defense peptide. Has an antiplasmodial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE2 8 +NX_P0DP74 Beta-defensin 130A 79 8736 9.47 0 Secreted NA Antimicrobial host-defense peptide. Has an antiplasmodial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE2 8 +NX_P0DP75 Putative uncharacterized protein MED14OS 135 14289 12.24 0 NA NA NA NA NA NA PE5 X +NX_P0DP91 Chimeric ERCC6-PGBD3 protein 1061 119487 6.15 0 Nucleus Premature ovarian failure 11 Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6. Involved in the regulation of gene expression. In the absence of ERCC6, induces the expression of genes characteristic of interferon-like antiviral responses. This response is almost completely suppressed in the presence of ERCC6. In the presence of ERCC6, regulates the expression of genes involved in metabolism regulation, including IGFBP5 and IGFBP7. In vitro binds to PGBD3-related transposable elements, called MER85s; these non-autonomous 140 bp elements are characterized by the presence of PGBD3 terminal inverted repeats and the absence of internal transposase ORF. NA NA NA PE1 10 +NX_P0DPA2 V-set and immunoglobulin domain-containing protein 8 414 43891 6.84 1 Membrane NA NA NA NA NA PE1 1 +NX_P0DPA3 Putative uncharacterized protein SNHG28 235 25086 9.42 0 NA NA NA NA NA NA PE5 1 +NX_P0DPB3 Schwannomin-interacting protein 1 487 53480 4.98 0 Cytoplasm NA NA NA Belongs to the SCHIP1 family. NA PE1 3 +NX_P0DPB5 Protein POLR1D, isoform 2 122 14332 9.88 0 Golgi apparatus;Nucleoplasm NA NA NA NA NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;Cytosolic sensors of pathogen-associated DNA;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter;B-WICH complex positively regulates rRNA expression PE1 13 +NX_P0DPB6 DNA-directed RNA polymerases I and III subunit RPAC2 133 15237 5.55 0 Nucleus Treacher Collins syndrome 2 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common core component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. NA Belongs to the archaeal RpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family. NA PE1 13 +NX_P0DPD5 Zinc finger protein 723 513 59152 9.39 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE2 19 +NX_P0DPD6 Endothelin-converting enzyme 2 811 91211 5.19 1 Secretory vesicle membrane;Golgi apparatus membrane NA Converts big endothelin-1 to endothelin-1. Also involved in the processing of various neuroendocrine peptides, including neurotensin, angiotensin I, substance P, proenkephalin-derived peptides, and prodynorphin-derived peptides. May play a role in amyloid-beta processing (By similarity). NA Belongs to the peptidase M13 family. Peptide ligand-binding receptors PE1 3 +NX_P0DPD7 EEF1A lysine methyltransferase 4 255 28306 5.65 0 NA NA Protein-lysine methyltransferase that efficiently catalyzes three successive methylations on 'Lys-36' in eukaryotic translation elongation factor 1 alpha (EEF1A1 or EEF1A2). NA Belongs to the methyltransferase superfamily. NA PE1 3 +NX_P0DPD8 EEF1AKMT4-ECE2 readthrough transcript protein 883 99773 4.98 1 Secretory vesicle membrane;Golgi apparatus membrane NA Converts big endothelin-1 to endothelin-1. May also have methyltransferase activity (By similarity). May play a role in amyloid-beta processing (By similarity). NA In the N-terminal section; belongs to the methyltransferase superfamily.;In the C-terminal section; belongs to the peptidase M13 family. NA PE1 3 +NX_P0DPE3 Transmembrane and death domain protein 1 317 33577 9.29 1 Membrane NA NA NA NA NA PE2 12 +NX_P0DPE8 Small integral membrane protein 34B 139 15007 8.6 1 Membrane NA NA NA NA NA PE2 21 +NX_P0DPF2 Neuroblastoma breakpoint family member 20 5207 595733 4.55 0 Cytoplasm NA NA NA Belongs to the NBPF family. NA PE2 1 +NX_P0DPF3 Neuroblastoma breakpoint family member 9 1111 127756 4.71 0 Cytoplasm NA NA NA Belongs to the NBPF family. NA PE2 1 +NX_P0DPF4 T cell receptor alpha variable 35 110 12305 4.64 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE3 14 +NX_P0DPF5 Uncharacterized protein C2orf27A 203 21517 5.13 0 NA NA NA NA NA NA PE2 2 +NX_P0DPF6 Uncharacterized protein C2orf27B 209 22074 4.78 0 NA NA NA NA NA NA PE2 2 +NX_P0DPF7 T cell receptor beta variable 6-3 114 12525 8.38 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE1 7 +NX_P0DPH7 Tubulin alpha-3C chain 450 49960 4.98 0 Cytoskeleton NA Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).;Methylation of alpha chains at Lys-40 is found in mitotic microtubules and is required for normal mitosis and cytokinesis contributing to genomic stability.;Acetylation of alpha chains at Lys-40 is located inside the microtubule lumen. This modification has been correlated with increased microtubule stability, intracellular transport and ciliary assembly.;Tubulin alpha-1B chain: Tyrosination promotes microtubule interaction with CAP-Gly domain-containing proteins such as CLIP1, CLIP2 and DCTN1 (By similarity). Tyrosination regulates the initiation of dynein-dynactin motility via interaction with DCTN1, which brings the dynein-dynactin complex into contact with microtubules (PubMed:26972003). In neurons, tyrosinated tubulins mediate the initiation of retrograde vesicle transport (By similarity).;Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).;Nitration of Tyr-450 is irreversible and interferes with normal dynein intracellular distribution.;Detyrosinated tubulin alpha-1C chain: Detyrosination is involved in metaphase plate congression by guiding chromosomes during mitosis: detyrosination promotes interaction with CENPE, promoting pole-proximal transport of chromosomes toward the equator (PubMed:25908662). Detyrosination increases microtubules-dependent mechanotransduction in dystrophic cardiac and skeletal muscle. In cardiomyocytes, detyrosinated microtubules are required to resist to contractile compression during contraction: detyrosination promotes association with desmin (DES) at force-generating sarcomeres, leading to buckled microtubules and mechanical resistance to contraction (By similarity).;Undergoes a tyrosination/detyrosination cycle, the cyclic removal and re-addition of a C-terminal tyrosine residue by the enzymes tubulin tyrosine carboxypeptidase (VASH1 or VASH2) and tubulin tyrosine ligase (TTL), respectively. Belongs to the tubulin family. Separation of Sister Chromatids;MHC class II antigen presentation;Intraflagellar transport;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Hedgehog 'off' state;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Post-chaperonin tubulin folding pathway;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 13 +NX_P0DPH8 Tubulin alpha-3D chain 450 49960 4.98 0 Cytoskeleton Keratoconus 9 Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. Methylation of alpha chains at Lys-40 is found in mitotic microtubules and is required for normal mitosis and cytokinesis contributing to genomic stability.;Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).;Undergoes a tyrosination/detyrosination cycle, the cyclic removal and re-addition of a C-terminal tyrosine residue by the enzymes tubulin tyrosine carboxypeptidase (VASH1 or VASH2) and tubulin tyrosine ligase (TTL), respectively.;Detyrosinated tubulin alpha-1C chain: Detyrosination is involved in metaphase plate congression by guiding chromosomes during mitosis: detyrosination promotes interaction with CENPE, promoting pole-proximal transport of chromosomes toward the equator (PubMed:25908662). Detyrosination increases microtubules-dependent mechanotransduction in dystrophic cardiac and skeletal muscle. In cardiomyocytes, detyrosinated microtubules are required to resist to contractile compression during contraction: detyrosination promotes association with desmin (DES) at force-generating sarcomeres, leading to buckled microtubules and mechanical resistance to contraction (By similarity).;Acetylation of alpha chains at Lys-40 is located inside the microtubule lumen. This modification has been correlated with increased microtubule stability, intracellular transport and ciliary assembly.;Nitration of Tyr-450 is irreversible and interferes with normal dynein intracellular distribution.;Tubulin alpha-1B chain: Tyrosination promotes microtubule interaction with CAP-Gly domain-containing proteins such as CLIP1, CLIP2 and DCTN1 (By similarity). Tyrosination regulates the initiation of dynein-dynactin motility via interaction with DCTN1, which brings the dynein-dynactin complex into contact with microtubules (PubMed:26972003). In neurons, tyrosinated tubulins mediate the initiation of retrograde vesicle transport (By similarity).;Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable). Belongs to the tubulin family. Separation of Sister Chromatids;MHC class II antigen presentation;Intraflagellar transport;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Hedgehog 'off' state;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Post-chaperonin tubulin folding pathway;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 2 +NX_P0DPH9 Uncharacterized protein CXorf51B 108 12028 10.8 0 NA NA NA NA NA NA PE1 X +NX_P0DPI2 Glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial 268 28170 8.5 0 Mitochondrion NA NA NA Belongs to the GATD3 family. NA PE1 21 +NX_P0DPI3 Centromere protein V-like protein 2 272 29887 10.16 0 NA NA NA NA Belongs to the Gfa family. NA PE2 X +NX_P0DPI4 T cell receptor beta diversity 1 4 290 5.53 0 Cell membrane NA D region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585). NA NA NA PE4 7 +NX_P0DPK2 Histone H3.Y 136 15423 11.51 0 Nucleus;Chromosome NA Primate-specific variant histone H3, which constitutes a core component of nucleosomes (PubMed:20819935, PubMed:27016736). Histone H3.Y-containing nucleosomes accumulate around transcription start sites and have flexible DNA ends, suggesting that they form relaxed chromatin that allows transcription factor access (PubMed:27016736). Histone H1 binds less efficiently to histone H3.Y-containing nucleosomes (PubMed:27016736). Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling (Probable). Lysine deamination at Lys-5 (H3K4all) to form allysine. Allysine formation only takes place on H3K4me3 and results in gene repression.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Acetylation is generally linked to gene activation. Acetylation on Lys-10 (H3K9ac) impairs methylation at Arg-9 (H3R8me2s). Acetylation on Lys-19 (H3K18ac) and Lys-24 (H3K24ac) favors methylation at Arg-18 (H3R17me).;Asymmetric dimethylation at Arg-18 (H3R17me2a) is linked to gene activation. Symmetric dimethylation at Arg-9 (H3R8me2s) is linked to gene repression. Asymmetric dimethylation at Arg-3 (H3R2me2a) is linked to gene repression and is mutually exclusive with H3 Lys-5 methylation (H3K4me2 and H3K4me3). H3R2me2a is present at the 3' of genes regardless of their transcription state and is enriched on inactive promoters, while it is absent on active promoters.;Butyrylation of histones marks active promoters and competes with histone acetylation. It is present during late spermatogenesis.;Citrullination at Arg-9 (H3R8ci) and/or Arg-18 (H3R17ci) impairs methylation and represses transcription.;Phosphorylation at Thr-7 (H3T6ph) is a specific tag for epigenetic transcriptional activation that prevents demethylation of Lys-5 (H3K4me) by LSD1/KDM1A. At centromeres, specifically phosphorylated at Thr-12 (H3T11ph) from prophase to early anaphase. Phosphorylation at Thr-12 (H3T11ph) is a specific tag for epigenetic transcriptional activation that promotes demethylation of Lys-10 (H3K9me). Phosphorylation at Tyr-42 (H3Y41ph) promotes exclusion of CBX5 (HP1 alpha) from chromatin.;Methylation at Lys-5 (H3K4me) facilitates subsequent acetylation of H3 and H4. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me), which are linked to gene repression, are underrepresented. Methylation at Lys-10 (H3K9me) is a specific target for HP1 proteins (CBX1, CBX3 and CBX5) and prevents subsequent acetylation of H3 and H4. Belongs to the histone H3 family. NA PE1 5 +NX_P0DPK3 Notch homolog 2 N-terminal-like protein B 275 30097 5.44 0 Secreted NA Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29856954, PubMed:29856955, PubMed:29561261). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954, PubMed:29856955). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954, PubMed:29856955). Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954). Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (PubMed:29856955). NA Belongs to the NOTCH family. NA PE1 1 +NX_P0DPK4 Notch homolog 2 N-terminal-like protein C 236 25835 5.44 0 Secreted NA Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29856954, PubMed:29856955, PubMed:29561261). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954). Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954). Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (By similarity). NA Belongs to the NOTCH family. NA PE1 1 +NX_P0DPK5 Putative histone H3.X 147 16466 11.39 0 Nucleus;Chromosome NA Primate-specific variant histone H3, which constitutes a core component of nucleosomes (PubMed:20819935). Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling (Probable). Acetylation is generally linked to gene activation. Acetylation on Lys-10 (H3K9ac) impairs methylation at Arg-9 (H3R8me2s). Acetylation on Lys-19 (H3K18ac) and Lys-24 (H3K24ac) favors methylation at Arg-18 (H3R17me).;Butyrylation of histones marks active promoters and competes with histone acetylation. It is present during late spermatogenesis.;Phosphorylation at Thr-7 (H3T6ph) is a specific tag for epigenetic transcriptional activation that prevents demethylation of Lys-5 (H3K4me) by LSD1/KDM1A. At centromeres, specifically phosphorylated at Thr-12 (H3T11ph) from prophase to early anaphase. Phosphorylation at Thr-12 (H3T11ph) is a specific tag for epigenetic transcriptional activation that promotes demethylation of Lys-10 (H3K9me). Phosphorylation at Tyr-42 (H3Y41ph) promotes exclusion of CBX5 (HP1 alpha) from chromatin.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Methylation at Lys-5 (H3K4me) facilitates subsequent acetylation of H3 and H4. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me), which are linked to gene repression, are underrepresented. Methylation at Lys-10 (H3K9me) is a specific target for HP1 proteins (CBX1, CBX3 and CBX5) and prevents subsequent acetylation of H3 and H4.;Asymmetric dimethylation at Arg-18 (H3R17me2a) is linked to gene activation. Symmetric dimethylation at Arg-9 (H3R8me2s) is linked to gene repression. Asymmetric dimethylation at Arg-3 (H3R2me2a) is linked to gene repression and is mutually exclusive with H3 Lys-5 methylation (H3K4me2 and H3K4me3). H3R2me2a is present at the 3' of genes regardless of their transcription state and is enriched on inactive promoters, while it is absent on active promoters.;Lysine deamination at Lys-5 (H3K4all) to form allysine. Allysine formation only takes place on H3K4me3 and results in gene repression.;Citrullination at Arg-9 (H3R8ci) and/or Arg-18 (H3R17ci) impairs methylation and represses transcription. Belongs to the histone H3 family. NA PE5 5 +NX_P0DPP9 Embryonic testis differentiation protein homolog B 59 6991 10.43 0 NA NA NA NA NA NA PE1 X +NX_P0DPQ3 Proline-rich protein 20G 210 21866 9.5 0 NA NA NA NA Belongs to the PRR20 family. NA PE3 3 +NX_P0DPQ4 Protein FAM243B 251 29214 8.7 0 NA NA NA NA Belongs to the FAM243 family. NA PE2 21 +NX_P0DPQ6 DDIT3 upstream open reading frame protein 34 4284 11.44 0 Cytoplasm;Nucleus NA NA NA NA NA PE1 12 +NX_P0DPR3 T cell receptor delta diversity 1 2 260 4 0 Cell membrane NA D region of the variable domain of T cell receptor (TR) delta chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:28920588, PubMed:23348415). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714). NA NA NA PE1 14 +NX_P0DQD5 Neuropeptide Y receptor type 4-2 375 42195 8.46 7 Cell membrane NA Receptor for neuropeptide Y and peptide YY. The rank order of affinity of this receptor for pancreatic polypeptides is PP, PP (2-36) and [Ile-31, Gln-34] PP > [Pro-34] PYY > PYY and [Leu-31, Pro-34] NPY > NPY > PYY (3-36) and NPY (2-36) > PP (13-36) > PP (31-36) > NPY free acid. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 10 +NX_P0DTA3 Putative speedy protein E11 265 31441 5.8 0 NA NA NA NA Belongs to the Speedy/Ringo family. NA PE5 7 +NX_P10070 Zinc finger protein GLI2 1586 167783 6.9 0 Cytoplasm;Cilium;Nucleolus;Nucleoplasm;Nucleus Holoprosencephaly 9;Culler-Jones syndrome Acts as a transcriptional repressor.;Functions as transcription regulator in the hedgehog (Hh) pathway (PubMed:18455992, PubMed:26565916). Functions as transcriptional activator (PubMed:9557682, PubMed:19878745, PubMed:24311597). May also function as transcriptional repressor (By similarity). Requires STK36 for full transcriptional activator activity. Required for normal embryonic development (PubMed:15994174, PubMed:20685856).;Act as transcriptional activators in T-cell leukemia virus type 1 (HTLV-1)-infected cells in a Tax-dependent manner. Bind to the DNA sequence 5'-GAACCACCCA-3' which is part of the Tax-responsive element (TRE-2S) regulatory element that augments the Tax-dependent enhancer of HTLV-1 (PubMed:9557682). Are involved in the smoothened (SHH) signaling pathway (PubMed:18455992). Phosphorylated in vitro by ULK3. Phosphorylated by DYRK2; this inhibits GLI2 transcription factor activity and promotes proteasomal degradation of GLI2.;Acetylation at Lys-757 inhibits Hh target gene expression, probably by impeding entry into chromatin thus preventing promoter occupancy. Belongs to the GLI C2H2-type zinc-finger protein family. Degradation of GLI2 by the proteasome;Hedgehog 'on' state;Hedgehog 'off' state;GLI proteins bind promoters of Hh responsive genes to promote transcription;RUNX2 regulates chondrocyte maturation PE1 2 +NX_P10071 Transcriptional activator GLI3 1580 169863 7.02 0 Cytoplasm;Cilium;Nucleus Polydactyly, postaxial A1;Polydactyly, postaxial B;Greig cephalo-poly-syndactyly syndrome;Pallister-Hall syndrome;Polydactyly, preaxial 4 Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a role in regulating the size of the zone of distal chondrocytes, in restricting the zone of PTHLH expression in distal cells and in activating chondrocyte proliferation. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'. Transcriptional repressor GLI3R, a C-terminally truncated form, is generated from the full-length GLI3 protein (GLI3FL/GLI3-190) through proteolytic processing. This process requires PKA-primed phosphorylation of GLI3, ubiquitination of GLI3 and the presence of BTRC. GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state. Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R. GLI3R formation leads to its dissociation from SUFU, allowing it to translocate into the nucleus, and repress Hh target genes. When Hh signaling is initiated, SUFU dissociates from GLI3FL and this has two consequences. First, GLI3R production is halted. Second, free GLI3FL translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A). Phosphorylated in vitro by ULK3.;Phosphorylated on multiple sites by protein kinase A (PKA) and phosphorylation by PKA primes further phosphorylation by CK1 and GSK3. Phosphorylated by DYRK2 (in vitro). Phosphorylation is essential for its proteolytic processing. Belongs to the GLI C2H2-type zinc-finger protein family. GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Hedgehog 'off' state;GLI proteins bind promoters of Hh responsive genes to promote transcription;RUNX2 regulates osteoblast differentiation PE1 7 +NX_P10072 Zinc finger protein 875 659 75128 9.44 0 Nucleoplasm;Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_P10073 Zinc finger and SCAN domain-containing protein 22 491 54561 7.36 0 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_P10074 Telomere zinc finger-associated protein 688 77054 8.55 0 Nucleoplasm;Cytosol;Telomere;Nucleus NA Telomere-binding protein that acts as a regulator of telomere length (PubMed:28500257, PubMed:28082411). Directly binds the telomeric double-stranded 5'-TTAGGG-3' repeat (PubMed:28500257, PubMed:28082411). Preferentially binds to telomeres that have a low concentration of shelterin complex and acts as a regulator of telomere length by initiating telomere trimming, a process that prevents the accumulation of aberrantly long telomeres (PubMed:28082411). Also acts as a transcription regulator that binds to promoter regions (PubMed:7969177, PubMed:24382891, PubMed:28500257). Regulates expression of a small subset of genes, including MTFP1 (PubMed:28500257). Regulates expression the J and/or S elements in MHC II promoter (PubMed:7969177). Acts as a negative regulator of cell proliferation by specifically activating expression of ARF, a tumor suppressor isoform of CDKN2A (PubMed:24382891). NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 1 +NX_P10075 Zinc finger protein GLI4 376 41145 9.13 0 Nucleoplasm;Nucleus;Cytoskeleton NA NA NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 8 +NX_P10082 Peptide YY 97 11145 7.88 0 Secreted NA This gut peptide inhibits exocrine pancreatic secretion, has a vasoconstrictory action and inhibitis jejunal and colonic mobility. The peptide YY form is cleaved at Pro-30 by the prolyl endopeptidase FAP (seprase) activity (in vitro) to generate peptide YY(3-36). Belongs to the NPY family. G alpha (i) signalling events;Peptide ligand-binding receptors PE1 17 +NX_P10092 Calcitonin gene-related peptide 2 127 13706 10.1 0 Secreted NA CGRP induces vasodilation. It dilates a variety of vessels including the coronary, cerebral and systemic vasculature. Its abundance in the CNS also points toward a neurotransmitter or neuromodulator role. NA Belongs to the calcitonin family. G alpha (s) signalling events;Calcitonin-like ligand receptors PE1 11 +NX_P10109 Adrenodoxin, mitochondrial 184 19393 5.51 0 Mitochondrion matrix;Mitochondrion NA Essential for the synthesis of various steroid hormones (PubMed:20547883, PubMed:21636783). Participates in the reduction of mitochondrial cytochrome P450 for steroidogenesis (PubMed:20547883, PubMed:21636783). Transfers electrons from adrenodoxin reductase to CYP11A1, a cytochrome P450 that catalyzes cholesterol side-chain cleavage (PubMed:20547883, PubMed:21636783). Does not form a ternary complex with adrenodoxin reductase and CYP11A1 but shuttles between the two enzymes to transfer electrons (By similarity). NA Belongs to the adrenodoxin/putidaredoxin family. Mitochondrial iron-sulfur cluster biogenesis;Pregnenolone biosynthesis;Endogenous sterols;Electron transport from NADPH to Ferredoxin;Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) PE1 11 +NX_P10114 Ras-related protein Rap-2a 183 20615 4.73 0 Recycling endosome membrane;Midbody NA Small GTP-binding protein which cycles between a GDP-bound inactive and a GTP-bound active form. In its active form interacts with and regulates several effectors including MAP4K4, MINK1 and TNIK. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it is part of several signaling cascades and may regulate cytoskeletal rearrangements, cell migration, cell adhesion and cell spreading. Palmitoylated. Palmitoylation is required for association with recycling endosome membranes and activation of TNIK.;Ubiquitinated; undergoes 'Lys-63' monoubiquitination and diubiquitination by NEDD4. Multiple lysine residues are probably modified. Ubiquitination requires TNIK, prevents interaction with effectors and inactivates RAP2A. Belongs to the small GTPase superfamily. Ras family. NA PE1 13 +NX_P10124 Serglycin 158 17652 4.81 0 Golgi apparatus;Cytoplasmic granule;Extracellular space NA Plays a role in formation of mast cell secretory granules and mediates storage of various compounds in secretory vesicles. Required for storage of some proteases in both connective tissue and mucosal mast cells and for storage of granzyme B in T-lymphocytes. Plays a role in localizing neutrophil elastase in azurophil granules of neutrophils. Mediates processing of MMP2. Plays a role in cytotoxic cell granule-mediated apoptosis by forming a complex with granzyme B which is delivered to cells by perforin to induce apoptosis. Regulates the secretion of TNF-alpha and may also regulate protease secretion. Inhibits bone mineralization. O-glycosylated; contains chondroitin sulfate and heparan sulfate. Belongs to the serglycin family. Platelet degranulation PE1 10 +NX_P10144 Granzyme B 247 27716 9.62 0 Cytoplasmic granule NA This enzyme is necessary for target cell lysis in cell-mediated immune responses. It cleaves after Asp. Seems to be linked to an activation cascade of caspases (aspartate-specific cysteine proteases) responsible for apoptosis execution. Cleaves caspase-3, -7, -9 and 10 to give rise to active enzymes mediating apoptosis. NA Belongs to the peptidase S1 family. Granzyme subfamily. Natural killer cell mediated cytotoxicity;Type I diabetes mellitus;Autoimmune thyroid disease;Allograft rejection;Graft-versus-host disease;NOTCH2 intracellular domain regulates transcription;Activation, myristolyation of BID and translocation to mitochondria PE1 14 +NX_P10145 Interleukin-8 99 11098 9.1 0 Secreted NA IL-8 is a chemotactic factor that attracts neutrophils, basophils, and T-cells, but not monocytes. It is also involved in neutrophil activation. It is released from several cell types in response to an inflammatory stimulus. IL-8(6-77) has a 5-10-fold higher activity on neutrophil activation, IL-8(5-77) has increased activity on neutrophil activation and IL-8(7-77) has a higher affinity to receptors CXCR1 and CXCR2 as compared to IL-8(1-77), respectively. Citrullination at Arg-27 prevents proteolysis, and dampens tissue inflammation, it also enhances leukocytosis, possibly through impaired chemokine clearance from the blood circulation.;Several N-terminal processed forms are produced by proteolytic cleavage after secretion from at least peripheral blood monocytes, leukcocytes and endothelial cells. In general, IL-8(1-77) is referred to as interleukin-8. IL-8(6-77) is the most promiment form. Belongs to the intercrine alpha (chemokine CxC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Epithelial cell signaling in Helicobacter pylori infection;Shigellosis;Salmonella infection;Pertussis;Legionellosis;Chagas disease (American trypanosomiasis);Malaria;Amoebiasis;Hepatitis C;Influenza A;Pathways in cancer;Bladder cancer;Rheumatoid arthritis;G alpha (i) signalling events;Peptide ligand-binding receptors;Senescence-Associated Secretory Phenotype (SASP);Chemokine receptors bind chemokines;ATF4 activates genes in response to endoplasmic reticulum stress;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling PE1 4 +NX_P10147 C-C motif chemokine 3 92 10085 4.77 0 Secreted NA Monokine with inflammatory and chemokinetic properties. Binds to CCR1, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant MIP-1-alpha induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). N-terminal processed form LD78-alpha(4-69) is produced by proteolytic cleavage after secretion from HTLV1-transformed T-cells. Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Toll-like receptor signaling pathway;Salmonella infection;Chagas disease (American trypanosomiasis);Rheumatoid arthritis;Interleukin-10 signaling PE1 17 +NX_P10153 Non-secretory ribonuclease 161 18354 9.1 0 Cytoplasmic granule;Lysosome NA This is a non-secretory ribonuclease. It is a pyrimidine specific nuclease with a slight preference for U. Cytotoxin and helminthotoxin. Selectively chemotactic for dendritic cells. Possesses a wide variety of biological activities. A particular signal processing and glycosylation pattern may differentiate the UpI2 RNase, found specifically in pregnant women urine, from other nonsecretory RNases. Belongs to the pancreatic ribonuclease family. Neutrophil degranulation PE1 14 +NX_P10155 60 kDa SS-A/Ro ribonucleoprotein 538 60671 8.27 0 Cytoplasm;Nucleoplasm;Cytosol NA May play roles in cilia formation and/or maintenance.;RNA-binding protein that binds to misfolded non-coding RNAs, pre-5S rRNA, and several small cytoplasmic RNA molecules known as Y RNAs. May stabilize some of these RNAs and protect them from degradation (PubMed:18056422). Binds to endogenous Alu retroelements which are induced by type I interferon and stimulate porinflammaotry cytokine secretion. Regulates the expression of Alu retroelements as well as inflammatory genes (PubMed:26382853). NA Belongs to the Ro 60 kDa family. Systemic lupus erythematosus PE1 1 +NX_P10163 Basic salivary proline-rich protein 4 310 31326 10.52 0 Secreted NA NA N-glycosylated.;Proteolytically cleaved at the tripeptide Xaa-Pro-Gln, where Xaa in the P(3) position is mostly lysine. The endoprotease may be of microbial origin. Pyroglutamate formation found on at least Gln-46, Gln-48, Gln-67, Gln-88; Gln-90; Gln-193; Gln-288 Gln-214 and Gln-295, preferentially in diabetic, and head and neck cancer patients. NA NA PE1 12 +NX_P10176 Cytochrome c oxidase subunit 8A, mitochondrial 69 7579 10.26 1 Mitochondrion inner membrane;Mitochondrion NA This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. NA Belongs to the cytochrome c oxidase VIII family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 11 +NX_P10242 Transcriptional activator Myb 640 72341 6.35 0 Nucleoplasm;Cytosol;Nucleus NA Transcriptional activator; DNA-binding protein that specifically recognize the sequence 5'-YAAC[GT]G-3'. Plays an important role in the control of proliferation and differentiation of hematopoietic progenitor cells. Phosphorylated by NLK on multiple sites, which induces proteasomal degradation.;Phosphorylated by HIPK1. This phosphorylation reduces MYB transcription factor activity but not MYB protein levels.;Ubiquitinated; mediated by SIAH1 and leading to its subsequent proteasomal degradation.;MYB is phosphorylated by HIPK1;MYB is phosphorylated by NLK (Phosphoserine,Phosphothreonine:PTM-0253,PTM-0254) NA HTLV-I infection;Factors involved in megakaryocyte development and platelet production;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 6 +NX_P10243 Myb-related protein A 752 85887 6.69 0 Nucleoplasm;Nucleus NA Transcription factor that specifically recognizes the sequence 5'-YAAC[GT]G-3' (PubMed:8058310, PubMed:7987850). Acts as a master regulator of male meiosis by promoting expression of piRNAs: activates expression of both piRNA precursor RNAs and expression of protein-coding genes involved in piRNA metabolism (By similarity). The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity (By similarity). MYBL1 is phosphorylated by NLK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA HTLV-I infection;PIWI-interacting RNA (piRNA) biogenesis PE1 8 +NX_P10244 Myb-related protein B 700 78764 6.43 0 Nucleoplasm;Cytosol;Nucleus NA Transcription factor involved in the regulation of cell survival, proliferation, and differentiation. Transactivates the expression of the CLU gene. Phosphorylated by cyclin A/CDK2 during S-phase. Phosphorylation at Thr-520 is probably involved in transcriptional activity. NA HTLV-I infection;Polo-like kinase mediated events;TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1 PE1 20 +NX_P10253 Lysosomal alpha-glucosidase 952 105324 5.62 0 Lysosome membrane;Lysosome Glycogen storage disease 2 Essential for the degradation of glycogen in lysosomes (PubMed:1856189, PubMed:7717400, PubMed:14695532, PubMed:18429042). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980). Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose 6-phosphate receptor.;The different forms of acid glucosidase are obtained by proteolytic processing. Belongs to the glycosyl hydrolase 31 family. Galactose metabolism;Starch and sucrose metabolism;Metabolic pathways;Lysosome;Glycogen breakdown (glycogenolysis);Glycogen storage disease type II (GAA);Neutrophil degranulation PE1 17 +NX_P10265 Endogenous retrovirus group K member 10 Pro protein 156 17108 5.86 0 NA NA Retroviral proteases have roles in processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. This endogenous protein has retained most of the characteristics of retroviral proteases. Autoproteolytically processed at the N-terminus. Expected C-terminal autoprocessing not detected. The sequence shown is that of the processed Pro protein. Belongs to the peptidase A2 family. HERV class-II K(HML-2) subfamily. NA PE1 5 +NX_P10266 Endogenous retrovirus group K member 10 Pol protein 1014 114827 9.11 0 NA NA Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution. NA Belongs to the beta type-B retroviral polymerase family. HERV class-II K(HML-2) pol subfamily. NA PE3 5 +NX_P10275 Androgen receptor 920 99188 6.01 0 Cytoplasm;Mitochondrion;Nucleus Spinal and bulbar muscular atrophy X-linked 1;Androgen insensitivity syndrome;Hypospadias 1, X-linked;Androgen insensitivity, partial Lack the C-terminal ligand-binding domain and may therefore constitutively activate the transcription of a specific set of genes independently of steroid hormones.;Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins like ZBTB7A that recruits NCOR1 and NCOR2 to the androgen response elements/ARE on target genes, negatively regulating androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Transcription activation is also down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3. Phosphorylated in prostate cancer cells in response to several growth factors including EGF. Phosphorylation is induced by c-Src kinase (CSK). Tyr-535 is one of the major phosphorylation sites and an increase in phosphorylation and Src kinase activity is associated with prostate cancer progression. Phosphorylation by TNK2 enhances the DNA-binding and transcriptional activity and may be responsible for androgen-independent progression of prostate cancer. Phosphorylation at Ser-83 by CDK9 regulates AR promoter selectivity and cell growth. Phosphorylation by PAK6 leads to AR-mediated transcription inhibition.;Palmitoylated by ZDHHC7 and ZDHHC21. Palmitoylation is required for plasma membrane targeting and for rapid intracellular signaling via ERK and AKT kinases and cAMP generation.;Sumoylated on Lys-388 (major) and Lys-521. Ubiquitinated. Deubiquitinated by USP26. 'Lys-6' and 'Lys-27'-linked polyubiquitination by RNF6 modulates AR transcriptional activity and specificity.;AR is phosphorylated by GSK3B;AR is phosphorylated by PAK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the nuclear hormone receptor family. NR3 subfamily. Oocyte meiosis;Pathways in cancer;Prostate cancer;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Nuclear Receptor transcription pathway;Ub-specific processing proteases;HSP90 chaperone cycle for steroid hormone receptors (SHR);RUNX2 regulates osteoblast differentiation;SUMOylation of intracellular receptors PE1 X +NX_P10276 Retinoic acid receptor alpha 462 50771 8.21 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Receptor for retinoic acid (PubMed:19850744, PubMed:16417524, PubMed:20215566). Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes (PubMed:28167758). The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5 (PubMed:28167758). In the absence of ligand, the RXR-RAR heterodimers associate with a multiprotein complex containing transcription corepressors that induce histone deacetylation, chromatin condensation and transcriptional suppression (PubMed:16417524). On ligand binding, the corepressors dissociate from the receptors and associate with the coactivators leading to transcriptional activation (PubMed:9267036, PubMed:19850744, PubMed:20215566). Formation of a complex with histone deacetylases might lead to inhibition of RARE DNA element binding and to transcriptional repression (PubMed:28167758). Transcriptional activation and RARE DNA element binding might be supported by the transcription factor KLF2 (PubMed:28167758). RARA plays an essential role in the regulation of retinoic acid-induced germ cell development during spermatogenesis (By similarity). Has a role in the survival of early spermatocytes at the beginning prophase of meiosis (By similarity). In Sertoli cells, may promote the survival and development of early meiotic prophase spermatocytes (By similarity). In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function (By similarity). Together with RXRA, positively regulates microRNA-10a expression, thereby inhibiting the GATA6/VCAM1 signaling response to pulsatile shear stress in vascular endothelial cells (PubMed:28167758). In association with HDAC3, HDAC5 and HDAC7 corepressors, plays a role in the repression of microRNA-10a and thereby promotes the inflammatory response (PubMed:28167758). Phosphorylated on serine and threonine residues. Phosphorylation does not change during cell cycle. Phosphorylation on Ser-77 is crucial for transcriptional activity (By similarity). Phosphorylation by AKT1 is required for the repressor activity but has no effect on DNA binding, protein stability nor subcellular localization. Phosphorylated by PKA in vitro. This phosphorylation on Ser-219 and Ser-369 is critical for ligand binding, nuclear localization and transcriptional activity in response to FSH signaling.;Ubiquitinated.;Trimethylation enhances heterodimerization with RXRA and positively modulates the transcriptional activation.;Sumoylated with SUMO2, mainly on Lys-399 which is also required for SENP6 binding. On all-trans retinoic acid (ATRA) binding, a confromational change may occur that allows sumoylation on two additional site, Lys-166 and Lys-171. Probably desumoylated by SENP6. Sumoylation levels determine nuclear localization and regulate ATRA-mediated transcriptional activity.;Acetylated; acetylation is increased upon pulsatile shear stress and decreased upon oscillatory shear stress. Belongs to the nuclear hormone receptor family. NR1 subfamily. Pathways in cancer;Acute myeloid leukemia;Nuclear Receptor transcription pathway;Signaling by Retinoic Acid;Activation of anterior HOX genes in hindbrain development during early embryogenesis;SUMOylation of intracellular receptors;Transcriptional regulation of granulopoiesis PE1 17 +NX_P10301 Ras-related protein R-Ras 218 23480 6.43 0 Cytoplasmic vesicle;Cell membrane NA Regulates the organization of the actin cytoskeleton (PubMed:16537651, PubMed:18270267). With OSPBL3, modulates integrin beta-1 (ITGB1) activity (PubMed:18270267). NA Belongs to the small GTPase superfamily. Ras family. MAPK signaling pathway;Tight junction;Regulation of actin cytoskeleton;HTLV-I infection;SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion;Sema4D mediated inhibition of cell attachment and migration PE1 19 +NX_P10321 HLA class I histocompatibility antigen, C alpha chain 366 40649 5.71 1 Endoplasmic reticulum membrane;Cell membrane Psoriasis 1 ALLELE C*06:02: In trophoblasts, interacts with KIR2DS2 on uterine NK cells and triggers NK cell activation, including secretion of cytokines such as GMCSF that enhances trophoblast migration.;ALLELE C*07:02: Plays an important role in the control of chronic CMV infection. Presents immunodominant CMV epitopes derived from IE1 (LSEFCRVL and CRVLCCYVL) and UL28 (FRCPRRFCF), both antigens synthesized during immediate-early period of viral replication. Elicits a strong anti-viral CD8-positive T cell immune response that increases markedly with age.;ALLELE C*01:02: The peptide-bound form interacts with KIR2DL2 and KIR2DL3 inhibitory receptors on NK cells. The low affinity peptides compete with the high affinity peptides impeding KIR-mediated inhibition and favoring lysis of infected cells (PubMed:20439706). Presents to CD8-positive T cells a CMV epitope derived from UL83/pp65 (RCPEMISVL), an immediate-early antigen necessary for initiating viral replication (PubMed:12947002).;ALLELE C*04:01: Presents a conserved HIV-1 epitope derived from env (SFNCGGEFF) to memory CD8-positive T cells, eliciting very strong IFNG responses (PubMed:20104487). Presents CMV epitope derived from UL83/pp65 (QYDPVAALF) to CD8-positive T cells, triggering T cell cytotoxic response (PubMed:12947002).;ALLELE C*12:02: Presents CMV epitope derived from UL83 (VAFTSHEHF) to CD8-positive T cells.;Antigen-presenting major histocompatibility complex class I (MHCI) molecule with an important role in reproduction and antiviral immunity (PubMed:20972337, PubMed:24091323, PubMed:20439706, PubMed:11172028, PubMed:20104487, PubMed:28649982, PubMed:29312307). In complex with B2M/beta 2 microglobulin displays a restricted repertoire of self and viral peptides and acts as a dominant ligand for inhibitory and activating killer immunoglobulin receptors (KIRs) expressed on NK cells (PubMed:16141329). In an allogeneic setting, such as during pregnancy, mediates interaction of extravillous trophoblasts with KIR on uterine NK cells and regulate trophoblast invasion necessary for placentation and overall fetal growth (PubMed:20972337, PubMed:24091323). During viral infection, may present viral peptides with low affinity for KIRs, impeding KIR-mediated inhibition through peptide antagonism and favoring lysis of infected cells (PubMed:20439706). Presents a restricted repertoire of viral peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-C-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected cells, particularly in chronic viral infection settings such as HIV-1 or CMV infection (PubMed:11172028, PubMed:20104487, PubMed:28649982). Both the peptide and the MHC molecule are recognized by TCR, the peptide is responsible for the fine specificity of antigen recognition and MHC residues account for the MHC restriction of T cells (By similarity). Typically presents intracellular peptide antigens of 9 amino acids that arise from cytosolic proteolysis via proteasome. Can bind different peptides containing allele-specific binding motifs, which are mainly defined by anchor residues at position 2 and 9. Preferentially displays peptides having a restricted repertoire of hydrophobic or aromatic amino acids (Phe, Ile, Leu, Met, Val and Tyr) at the C-terminal anchor (PubMed:8265661, PubMed:25311805).;ALLELE C*05:01: Presents HIV-1 epitope derived from rev (SAEPVPLQL) to CD8-positive T cells, triggering T cell cytotoxic response.;ALLELE C*08:01: Presents viral epitopes derived from CMV UL83 (VVCAHELVC) and IAV M1 (GILGFVFTL), triggering CD8-positive T cell cytotoxic response.;ALLELE C*15:02: Presents CMV epitope derived from UL83 CC (VVCAHELVC) to CD8-positive T cells, triggering T cell cytotoxic response. N-linked glycosylation at Asn-110 is required for efficient interaction with CANX and CALR chaperones and appropriate HLA-C-B2M folded conformers prior to peptide loading. NA Endocytosis;Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Natural killer cell mediated cytotoxicity;Type I diabetes mellitus;HTLV-I infection;Herpes simplex infection;Autoimmune thyroid disease;Allograft rejection;Graft-versus-host disease;Viral myocarditis;ER-Phagosome pathway;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Endosomal/Vacuolar pathway;Interferon gamma signaling;Interferon alpha/beta signaling;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;Neutrophil degranulation PE1 6 +NX_P10323 Acrosin 421 45847 9.26 0 NA NA Acrosin is the major protease of mammalian spermatozoa. It is a serine protease of trypsin-like cleavage specificity, it is synthesized in a zymogen form, proacrosin and stored in the acrosome. NA Belongs to the peptidase S1 family. Acrosome Reaction and Sperm:Oocyte Membrane Binding PE1 22 +NX_P10398 Serine/threonine-protein kinase A-Raf 606 67585 9.2 0 Nucleoplasm;Nucleolus NA Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May also regulate the TOR signaling cascade.;Serves as a positive regulator of myogenic differentiation by inducing cell cycle arrest, the expression of myogenin and other muscle-specific proteins, and myotube formation. NA Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily. ErbB signaling pathway;Vascular smooth muscle contraction;Natural killer cell mediated cytotoxicity;Long-term potentiation;Long-term depression;Regulation of actin cytoskeleton;Insulin signaling pathway;Progesterone-mediated oocyte maturation;Hepatitis C;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Negative regulation of MAPK pathway;RAF activation;MAP2K and MAPK activation;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 X +NX_P10412 Histone H1.4 219 21865 11.03 0 Nucleus speckle;Nucleus;Chromosome Rahman syndrome Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity). ADP-ribosylated on Ser-150 in response to DNA damage.;H1 histones are progressively phosphorylated during the cell cycle, becoming maximally phosphorylated during late G2 phase and M phase, and being dephosphorylated sharply thereafter.;Acetylated at Lys-26. Deacetylated at Lys-26 by SIRT1.;Citrullination at Arg-54 (H1R54ci) by PADI4 takes place within the DNA-binding site of H1 and results in its displacement from chromatin and global chromatin decondensation, thereby promoting pluripotency and stem cell maintenance. Belongs to the histone H1/H5 family. Formation of Senescence-Associated Heterochromatin Foci (SAHF);Apoptosis induced DNA fragmentation PE1 6 +NX_P10415 Apoptosis regulator Bcl-2 239 26266 6.75 1 Mitochondrion outer membrane;Nucleoplasm;Endoplasmic reticulum membrane;Nucleus membrane NA Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells. Regulates cell death by controlling the mitochondrial membrane permeability. Appears to function in a feedback loop system with caspases. Inhibits caspase activity either by preventing the release of cytochrome c from the mitochondria and/or by binding to the apoptosis-activating factor (APAF-1). May attenuate inflammation by impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785). Monoubiquitinated by PRKN, leading to increase its stability. Ubiquitinated by SCF(FBXO10), leading to its degradation by the proteasome.;Proteolytically cleaved by caspases during apoptosis. The cleaved protein, lacking the BH4 motif, has pro-apoptotic activity, causes the release of cytochrome c into the cytosol promoting further caspase activity.;Phosphorylation/dephosphorylation on Ser-70 regulates anti-apoptotic activity. Growth factor-stimulated phosphorylation on Ser-70 by PKC is required for the anti-apoptosis activity and occurs during the G2/M phase of the cell cycle. In the absence of growth factors, BCL2 appears to be phosphorylated by other protein kinases such as ERKs and stress-activated kinases. Phosphorylated by MAPK8/JNK1 at Thr-69, Ser-70 and Ser-87, wich stimulates starvation-induced autophagy. Dephosphorylated by protein phosphatase 2A (PP2A) (By similarity). Belongs to the Bcl-2 family. Protein processing in endoplasmic reticulum;Apoptosis;Focal adhesion;Neurotrophin signaling pathway;Cholinergic synapse;Amyotrophic lateral sclerosis (ALS);Toxoplasmosis;Tuberculosis;Pathways in cancer;Colorectal cancer;Prostate cancer;Small cell lung cancer;Activation of BAD and translocation to mitochondria;BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members;The NLRP1 inflammasome;Interleukin-4 and Interleukin-13 signaling;Estrogen-dependent gene expression;Estrogen-dependent nuclear events downstream of ESR-membrane signaling PE1 18 +NX_P10451 Osteopontin 314 35423 4.37 0 Golgi apparatus;Secreted NA Binds tightly to hydroxyapatite. Appears to form an integral part of the mineralized matrix. Probably important to cell-matrix interaction.;Acts as a cytokine involved in enhancing production of interferon-gamma and interleukin-12 and reducing production of interleukin-10 and is essential in the pathway that leads to type I immunity. O-glycosylated.;Extensively phosphorylated by FAM20C in the extracellular medium at multiple sites within the S-x-E/pS motif.;Is GalNAc O-glycosylated at Thr-59 or Ser-62. Belongs to the osteopontin family. Focal adhesion;ECM-receptor interaction;Toll-like receptor signaling pathway;Degradation of the extracellular matrix;Signaling by PDGF;Integrin cell surface interactions;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation;RUNX3 Regulates Immune Response and Cell Migration PE1 4 +NX_P10515 Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial 647 68997 7.96 0 Mitochondrion matrix;Mitochondrion Pyruvate dehydrogenase E2 deficiency The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle. Delipoylated at Lys-132 and Lys-259 by SIRT4, delipoylation decreases the PHD complex activity. Belongs to the 2-oxoacid dehydrogenase family. Glycolysis / Gluconeogenesis;Citrate cycle (TCA cycle);Pyruvate metabolism;Metabolic pathways;Signaling by Retinoic Acid;Regulation of pyruvate dehydrogenase (PDH) complex;Pyruvate metabolism;Glyoxylate metabolism and glycine degradation PE1 11 +NX_P10523 S-arrestin 405 45120 6.14 0 Membrane;Photoreceptor outer segment Night blindness, congenital stationary, Oguchi type 1;Retinitis pigmentosa 47 Binds to photoactivated, phosphorylated RHO and terminates RHO signaling via G-proteins by competing with G-proteins for the same binding site on RHO (By similarity). May play a role in preventing light-dependent degeneration of retinal photoreceptor cells (PubMed:9565049). NA Belongs to the arrestin family. Activation of the phototransduction cascade;Inactivation, recovery and regulation of the phototransduction cascade PE1 2 +NX_P10586 Receptor-type tyrosine-protein phosphatase F 1907 212879 5.92 1 Membrane;Golgi apparatus Aplasia or hypoplasia of the breasts and/or nipples 2 Possible cell adhesion receptor. It possesses an intrinsic protein tyrosine phosphatase activity (PTPase) and dephosphorylates EPHA2 regulating its activity.;The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one. NA Belongs to the protein-tyrosine phosphatase family. Receptor class 2A subfamily. Cell adhesion molecules (CAMs);Adherens junction;Insulin signaling pathway;Synaptic adhesion-like molecules;Receptor-type tyrosine-protein phosphatases PE1 1 +NX_P10588 Nuclear receptor subfamily 2 group F member 6 404 42979 7.96 0 Nucleus NA Transcription factor predominantly involved in transcriptional repression. Binds to promoter/enhancer response elements that contain the imperfect 5'-AGGTCA-3' direct or inverted repeats with various spacings which are also recognized by other nuclear hormone receptors. Involved in modulation of hormonal responses. Represses transcriptional activity of the lutropin-choriogonadotropic hormone receptor/LHCGR gene, the renin/REN gene and the oxytocin-neurophysin/OXT gene. Represses the triiodothyronine-dependent and -independent transcriptional activity of the thyroid hormone receptor gene in a cell type-specific manner. The corepressing function towards thyroid hormone receptor beta/THRB involves at least in part the inhibition of THRB binding to triiodothyronine response elements (TREs) by NR2F6. Inhibits NFATC transcription factor DNA binding and subsequently its transcriptional activity. Acts as transcriptional repressor of IL-17 expression in Th-17 differentiated CD4(+) T cells and may be involved in induction and/or maintenance of peripheral immunological tolerance and autoimmunity. Involved in development of forebrain circadian clock; is required early in the development of the locus coeruleus (LC). NA Belongs to the nuclear hormone receptor family. NR2 subfamily. Nuclear Receptor transcription pathway PE1 19 +NX_P10589 COUP transcription factor 1 423 46156 8.62 0 Nucleus Bosch-Boonstra-Schaaf optic atrophy syndrome Coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates initiation of transcription. Binds to both direct repeats and palindromes of the 5'-AGGTCA-3' motif. Represses transcriptional activity of LHCG. NA Belongs to the nuclear hormone receptor family. NR2 subfamily. Nuclear Receptor transcription pathway PE1 5 +NX_P10599 Thioredoxin 105 11737 4.82 0 Cytoplasm;Secreted;Nucleoplasm;Cytosol;Nucleus NA Participates in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyzes dithiol-disulfide exchange reactions. Plays a role in the reversible S-nitrosylation of cysteine residues in target proteins, and thereby contributes to the response to intracellular nitric oxide. Nitrosylates the active site Cys of CASP3 in response to nitric oxide (NO), and thereby inhibits caspase-3 activity. Induces the FOS/JUN AP-1 DNA-binding activity in ionizing radiation (IR) cells through its oxidation/reduction status and stimulates AP-1 transcriptional activity.;ADF augments the expression of the interleukin-2 receptor TAC (IL2R/P55). In the fully reduced protein, both Cys-69 and Cys-73 are nitrosylated in response to nitric oxide (NO). When two disulfide bonds are present in the protein, only Cys-73 is nitrosylated. Cys-73 can serve as donor for nitrosylation of target proteins.;In case of infection, ubiquitinated by S.typhimurium protein slrP, leading to its degradation. Belongs to the thioredoxin family. Detoxification of Reactive Oxygen Species;Oxidative Stress Induced Senescence;The NLRP3 inflammasome;TP53 Regulates Metabolic Genes;Interconversion of nucleotide di- and triphosphates;Protein repair;Regulation of FOXO transcriptional activity by acetylation PE1 9 +NX_P10600 Transforming growth factor beta-3 proprotein 412 47328 8.31 0 Cytoplasmic vesicle;Extracellular matrix;Secreted Loeys-Dietz syndrome 5;Arrhythmogenic right ventricular dysplasia, familial, 1 Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively.;Latency-associated peptide: Required to maintain the Transforming growth factor beta-3 (TGF-beta-3) chain in a latent state during storage in extracellular matrix (By similarity). Associates non-covalently with TGF-beta-3 and regulates its activation via interaction with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-3 (By similarity). Interaction with integrins results in distortion of the Latency-associated peptide chain and subsequent release of the active TGF-beta-3 (By similarity).;Transforming growth factor beta-3: Multifunctional protein that regulates embryogenesis and cell differentiation and is required in various processes such as secondary palate development (By similarity). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains remain non-covalently linked rendering TGF-beta-3 inactive during storage in extracellular matrix (By similarity). At the same time, LAP chain interacts with 'milieu molecules', such as LTBP1 and LRRC32/GARP that control activation of TGF-beta-3 and maintain it in a latent state during storage in extracellular milieus (By similarity). TGF-beta-3 is released from LAP by integrins: integrin-binding results in distortion of the LAP chain and subsequent release of the active TGF-beta-3 (By similarity). Once activated following release of LAP, TGF-beta-3 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (By similarity). Transforming growth factor beta-3 proprotein: The precursor proprotein is cleaved in the Golgi apparatus to form Transforming growth factor beta-3 (TGF-beta-3) and Latency-associated peptide (LAP) chains, which remain non-covalently linked, rendering TGF-beta-3 inactive.;Methylated at Gln-293 by N6AMT1. Belongs to the TGF-beta family. MAPK signaling pathway;Cytokine-cytokine receptor interaction;Cell cycle;Endocytosis;TGF-beta signaling pathway;Leishmaniasis;Chagas disease (American trypanosomiasis);Malaria;Toxoplasmosis;Amoebiasis;Tuberculosis;HTLV-I infection;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Chronic myeloid leukemia;Rheumatoid arthritis;Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;Platelet degranulation;ECM proteoglycans;Molecules associated with elastic fibres PE1 14 +NX_P10606 Cytochrome c oxidase subunit 5B, mitochondrial 129 13696 9.07 0 Mitochondrion inner membrane;Mitochondrion NA This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. NA Belongs to the cytochrome c oxidase subunit 5B family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 2 +NX_P10619 Lysosomal protective protein 480 54466 6.16 0 Cytoplasmic vesicle;Lysosome Galactosialidosis Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. This protein is also a carboxypeptidase and can deamidate tachykinins. NA Belongs to the peptidase S10 family. Lysosome;Renin-angiotensin system;MHC class II antigen presentation;Sialic acid metabolism;Glycosphingolipid metabolism;Defective NEU1 causes sialidosis;Neutrophil degranulation PE1 20 +NX_P10620 Microsomal glutathione S-transferase 1 155 17599 9.41 4 Mitochondrion outer membrane;Endoplasmic reticulum membrane;Mitochondrion;Microsome;Endoplasmic reticulum NA Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Has a wide substrate specificity. Peroxynitrite induces nitration at Tyr-93 which activates the enzyme. Belongs to the MAPEG family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Glutathione conjugation;Aflatoxin activation and detoxification;Neutrophil degranulation PE1 12 +NX_P10632 Cytochrome P450 2C8 490 55825 8.8 0 Microsome membrane;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:7574697, PubMed:11093772, PubMed:14559847, PubMed:15766564, PubMed:19965576). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:7574697, PubMed:11093772, PubMed:14559847, PubMed:15766564, PubMed:19965576). Primarily catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA) with a preference for the last double bond (PubMed:7574697, PubMed:15766564, PubMed:19965576). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes all trans-retinoic acid toward its 4-hydroxylated form (PubMed:11093772). Displays 16-alpha hydroxylase activity toward estrogen steroid hormones, 17beta-estradiol (E2) and estrone (E1) (PubMed:14559847). Plays a role in the oxidative metabolism of xenobiotics. It is the principal enzyme responsible for the metabolism of the anti-cancer drug paclitaxel (taxol) (PubMed:26427316). NA Belongs to the cytochrome P450 family. Lipid metabolism; arachidonate metabolism.;Cofactor metabolism; retinol metabolism.;Steroid metabolism.;Arachidonic acid metabolism;Linoleic acid metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;Xenobiotics;Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET);CYP2E1 reactions;Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE);Biosynthesis of maresin-like SPMs PE1 10 +NX_P10635 Cytochrome P450 2D6 497 55769 6.77 0 Microsome membrane;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of fatty acids, steroids and retinoids (PubMed:18698000, PubMed:19965576, PubMed:20972997, PubMed:21289075, PubMed:21576599). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:18698000, PubMed:19965576, PubMed:20972997, PubMed:21289075, PubMed:21576599). Catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA) (PubMed:19965576, PubMed:20972997). Metabolizes endocannabinoid arachidonoylethanolamide (anandamide) to 20-hydroxyeicosatetraenoic acid ethanolamide (20-HETE-EA) and 8,9-, 11,12-, and 14,15-epoxyeicosatrienoic acid ethanolamides (EpETrE-EAs), potentially modulating endocannabinoid system signaling (PubMed:18698000, PubMed:21289075). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes cholesterol toward 25-hydroxycholesterol, a physiological regulator of cellular cholesterol homeostasis (PubMed:21576599). Catalyzes the oxidative transformations of all-trans retinol to all-trans retinal, a precursor for the active form all-trans-retinoic acid (PubMed:10681376). Also involved in the oxidative metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants. NA Belongs to the cytochrome P450 family. Cofactor metabolism; retinol metabolism.;Lipid metabolism; fatty acid metabolism.;Steroid metabolism; cholesterol metabolism.;Miscellaneous substrates;Xenobiotics;Fatty acids;CYP2E1 reactions;Biosynthesis of maresin-like SPMs PE1 22 +NX_P10636 Microtubule-associated protein tau 758 78928 6.25 0 Nucleus speckle;Cell membrane;Cytosol;Axon;Dendrite;Cytoskeleton Parkinson-dementia syndrome;Pick disease of the brain;Frontotemporal dementia;Progressive supranuclear palsy 1 Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity. The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both. Axonal polarity is predetermined by TAU/MAPT localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabilization. Glycation of PHF-tau, but not normal brain TAU/MAPT. Glycation is a non-enzymatic post-translational modification that involves a covalent linkage between a sugar and an amino group of a protein molecule forming ketoamine. Subsequent oxidation, fragmentation and/or cross-linking of ketoamine leads to the production of advanced glycation endproducts (AGES). Glycation may play a role in stabilizing PHF aggregation leading to tangle formation in AD.;O-glycosylated. O-GlcNAcylation content is around 8.2%. There is reciprocal down-regulation of phosphorylation and O-GlcNAcylation. Phosphorylation on Ser-717 completely abolishes the O-GlcNAcylation on this site, while phosphorylation on Ser-713 and Ser-721 reduces O-GlcNAcylation by a factor of 2 and 4 respectively. O-GlcNAcylation on Ser-717 decreases the phosphorylation on Ser-721 by about 41.5%.;Polyubiquitinated. Requires functional TRAF6 and may provoke SQSTM1-dependent degradation by the proteasome (By similarity). PHF-tau can be modified by three different forms of polyubiquitination. 'Lys-48'-linked polyubiquitination is the major form, 'Lys-6'-linked and 'Lys-11'-linked polyubiquitination also occur.;Phosphorylation at serine and threonine residues in S-P or T-P motifs by proline-directed protein kinases (PDPK1, CDK1, CDK5, GSK3, MAPK) (only 2-3 sites per protein in interphase, seven-fold increase in mitosis, and in the form associated with paired helical filaments (PHF-tau)), and at serine residues in K-X-G-S motifs by MAP/microtubule affinity-regulating kinase (MARK1, MARK2, MARK3 or MARK4), causing detachment from microtubules, and their disassembly (PubMed:7706316, PubMed:23666762). Phosphorylation decreases with age. Phosphorylation within tau/MAP's repeat domain or in flanking regions seems to reduce tau/MAP's interaction with, respectively, microtubules or plasma membrane components (PubMed:7706316). Phosphorylation on Ser-610, Ser-622, Ser-641 and Ser-673 in several isoforms during mitosis. Phosphorylation at Ser-548 by GSK3B reduces ability to bind and stabilize microtubules. Phosphorylation at Ser-579 by BRSK1 and BRSK2 in neurons affects ability to bind microtubules and plays a role in neuron polarization. Phosphorylated at Ser-554, Ser-579, Ser-602, Ser-606 and Ser-669 by PHK. Phosphorylation at Ser-214 by SGK1 mediates microtubule depolymerization and neurite formation in hippocampal neurons. There is a reciprocal down-regulation of phosphorylation and O-GlcNAcylation. Phosphorylation on Ser-717 completely abolishes the O-GlcNAcylation on this site, while phosphorylation on Ser-713 and Ser-721 reduces glycosylation by a factor of 2 and 4 respectively. Phosphorylation on Ser-721 is reduced by about 41.5% by GlcNAcylation on Ser-717. Dephosphorylated at several serine and threonine residues by the serine/threonine phosphatase PPP5C.;MAPT is phosphorylated by PKN1 (Phosphoserine:PTM-0253);MAPT is phosphorylated by LCK (Phosphotyrosine:PTM-0255) NA MAPK signaling pathway;Alzheimer's disease;Caspase-mediated cleavage of cytoskeletal proteins;Activation of AMPK downstream of NMDARs PE1 17 +NX_P10643 Complement component C7 843 93518 6.09 0 Secreted Complement component 7 deficiency Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C7 serves as a membrane anchor. C7 has 28 disulfide bridges.;C-, N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. Belongs to the complement C6/C7/C8/C9 family. Complement and coagulation cascades;Prion diseases;Systemic lupus erythematosus;Terminal pathway of complement;Regulation of Complement cascade PE1 5 +NX_P10644 cAMP-dependent protein kinase type I-alpha regulatory subunit 381 42982 5.27 0 Cytosol;Cell membrane Acrodysostosis 1, with or without hormone resistance;Intracardiac myxoma;Carney complex 1;Primary pigmented nodular adrenocortical disease 1 Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. The pseudophosphorylation site binds to the substrate-binding region of the catalytic chain, resulting in the inhibition of its activity. Belongs to the cAMP-dependent kinase regulatory chain family. Apoptosis;Insulin signaling pathway;Factors involved in megakaryocyte development and platelet production;Hedgehog 'off' state;PKA activation;PKA activation in glucagon signalling;DARPP-32 events;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;CREB1 phosphorylation through the activation of Adenylate Cyclase PE1 17 +NX_P10645 Chromogranin-A 457 50688 4.58 0 Secretory vesicle lumen;Secreted;Secretory vesicle membrane;Cytoplasmic vesicle;Secretory vesicle NA Pancreastatin: Strongly inhibits glucose induced insulin release from the pancreas.;Catestatin: Inhibits catecholamine release from chromaffin cells and noradrenergic neurons by acting as a non-competitive nicotinic cholinergic antagonist (PubMed:15326220). Displays antibacterial activity against Gram-positive bacteria S.aureus and M.luteus, and Gram-negative bacteria E.coli and P.aeruginosa (PubMed:15723172 and PubMed:24723458). Can induce mast cell migration, degranulation and production of cytokines and chemokines (PubMed:21214543). Acts as a potent scavenger of free radicals in vitro (PubMed:24723458). May play a role in the regulation of cardiac function and blood pressure (PubMed:18541522).;Serpinin: Regulates granule biogenesis in endocrine cells by up-regulating the transcription of protease nexin 1 (SERPINE2) via a cAMP-PKA-SP1 pathway. This leads to inhibition of granule protein degradation in the Golgi complex which in turn promotes granule formation. Sulfated on tyrosine residues and/or contains sulfated glycans.;Proteolytic processing gives rise to an additional longer form of catestatin (residues 358-390) which displays a less potent catecholamine release-inhibitory activity (PubMed:10781584). Plasmin-mediated proteolytic processing can give rise to additional shorter and longer forms of catestatin peptides (PubMed:17991725).;O-glycosylated with core 1 or possibly core 8 glycans. Belongs to the chromogranin/secretogranin protein family. Antimicrobial peptides PE1 14 +NX_P10646 Tissue factor pathway inhibitor 304 35015 8.61 0 Microsome membrane;Cytosol;Secreted;Cytoskeleton NA Inhibits factor X (X(a)) directly and, in a Xa-dependent way, inhibits VIIa/tissue factor activity, presumably by forming a quaternary Xa/LACI/VIIa/TF complex. It possesses an antithrombotic action and also the ability to associate with lipoproteins in plasma. O-glycosylated. NA Complement and coagulation cascades;Extrinsic Pathway of Fibrin Clot Formation PE1 2 +NX_P10696 Alkaline phosphatase, germ cell type 532 57377 5.9 0 Cell membrane NA NA NA Belongs to the alkaline phosphatase family. Folate biosynthesis;Metabolic pathways;Post-translational modification: synthesis of GPI-anchored proteins PE1 2 +NX_P10720 Platelet factor 4 variant 104 11553 9.3 0 Secreted NA Inhibitor of angiogenesis. Inhibitor of endothelial cell chemotaxis (in vitro). The N-terminal processed forms of platelet factor 4 variant seems to be produced by proteolytic cleavage. The most abundant form is Platelet factor 4 variant(5-74). Belongs to the intercrine alpha (chemokine CxC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Common Pathway of Fibrin Clot Formation;Cell surface interactions at the vascular wall PE1 4 +NX_P10721 Mast/stem cell growth factor receptor Kit 976 109865 6.54 1 Cytoplasm;Cell membrane Mastocytosis, systemic;Piebald trait;Gastrointestinal stromal tumor;Mastocytosis, cutaneous;Testicular germ cell tumor;Leukemia, acute myelogenous Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activated KIT also transmits signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3, STAT5A and STAT5B. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KIT signaling is modulated by protein phosphatases, and by rapid internalization and degradation of the receptor. Activated KIT promotes phosphorylation of the protein phosphatases PTPN6/SHP-1 and PTPRU, and of the transcription factors STAT1, STAT3, STAT5A and STAT5B. Promotes phosphorylation of PIK3R1, CBL, CRK (isoform Crk-II), LYN, MAPK1/ERK2 and/or MAPK3/ERK1, PLCG1, SRC and SHC1. Ubiquitinated by SOCS6. KIT is rapidly ubiquitinated after autophosphorylation induced by KITLG/SCF binding, leading to internalization and degradation.;Autophosphorylated on tyrosine residues. KITLG/SCF binding enhances autophosphorylation.;Shows low levels of tyrosine phosphorylation in the absence of added KITLG/SCF (in vitro). Kinase activity is down-regulated by phosphorylation on serine residues by protein kinase C family members. Phosphorylation at Tyr-568 is required for interaction with PTPN11/SHP-2, CRK (isoform Crk-II) and members of the SRC tyrosine-protein kinase family. Phosphorylation at Tyr-570 is required for interaction with PTPN6/SHP-1. Phosphorylation at Tyr-703, Tyr-823 and Tyr-936 is important for interaction with GRB2. Phosphorylation at Tyr-721 is important for interaction with PIK3R1. Phosphorylation at Tyr-823 and Tyr-936 is important for interaction with GRB7.;KIT is phosphorylated by LYN (Phosphotyrosine:PTM-0255);Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. Cytokine-cytokine receptor interaction;Endocytosis;Hematopoietic cell lineage;Melanogenesis;Pathways in cancer;Acute myeloid leukemia;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Signaling by SCF-KIT;Regulation of KIT signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;TFAP2 (AP-2) family regulates transcription of growth factors and their receptors PE1 4 +NX_P10745 Retinol-binding protein 3 1247 135363 4.98 0 Interphotoreceptor matrix Retinitis pigmentosa 66 IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina. NA Belongs to the peptidase S41A family. The canonical retinoid cycle in rods (twilight vision);The retinoid cycle in cones (daylight vision) PE1 10 +NX_P10746 Uroporphyrinogen-III synthase 265 28628 5.35 0 Nucleoplasm;Cytosol Congenital erythropoietic porphyria Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme). NA Belongs to the uroporphyrinogen-III synthase family. Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 3/4.;Porphyrin and chlorophyll metabolism;Metabolic pathways;Heme biosynthesis PE1 10 +NX_P10747 T-cell-specific surface glycoprotein CD28 220 25066 9.46 1 Cell surface;Membrane NA Enhances CD40L-mediated activation of NF-kappa-B and kinases MAPK8 and PAK2 in T-cells (PubMed:15067037).;Involved in T-cell activation, the induction of cell proliferation and cytokine production and promotion of T-cell survival. Enhances the production of IL4 and IL10 in T-cells in conjunction with TCR/CD3 ligation and CD40L costimulation (PubMed:8617933). CD40LG induces tyrosine phosphorylation of isoform 3.;CD28 is phosphorylated by FYN (Phosphotyrosine:PTM-0255);CD28 is phosphorylated by ITK (Phosphotyrosine:PTM-0255) NA Cell adhesion molecules (CAMs);T cell receptor signaling pathway;Intestinal immune network for IgA production;Type I diabetes mellitus;Measles;Autoimmune thyroid disease;Systemic lupus erythematosus;Rheumatoid arthritis;Allograft rejection;Graft-versus-host disease;Viral myocarditis;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;CD28 dependent PI3K/Akt signaling;Nef mediated downregulation of CD28 cell surface expression;CD28 co-stimulation;CD28 dependent Vav1 pathway;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 2 +NX_P10767 Fibroblast growth factor 6 208 22905 10 0 Extracellular space NA Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration. NA Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;Signaling by activated point mutants of FGFR1;FGFR4 ligand binding and activation;FGFR1c ligand binding and activation;FGFR2c ligand binding and activation;Activated point mutants of FGFR2;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade: FGFR1;Phospholipase C-mediated cascade, FGFR2;Phospholipase C-mediated cascade, FGFR4;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;PI-3K cascade:FGFR4;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR4 signaling;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Downstream signaling of activated FGFR1 PE1 12 +NX_P10768 S-formylglutathione hydrolase 282 31463 6.54 0 Golgi apparatus;Cytoplasm;Cytosol;Cytoplasmic vesicle NA Serine hydrolase involved in the detoxification of formaldehyde. NA Belongs to the esterase D family. Glutathione conjugation PE1 13 +NX_P10809 60 kDa heat shock protein, mitochondrial 573 61055 5.7 0 Mitochondrion matrix;Mitochondrion Spastic paraplegia 13, autosomal dominant;Leukodystrophy, hypomyelinating, 4 Chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp10, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix (PubMed:1346131, PubMed:11422376). The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per ring, followed by the binding of ATP and association with 2 heptameric rings of the co-chaperonin Hsp10. This leads to sequestration of the substrate protein in the inner cavity of Hsp60 where, for a certain period of time, it can fold undisturbed by other cell components. Synchronous hydrolysis of ATP in all Hsp60 subunits results in the dissociation of the chaperonin rings and the release of ADP and the folded substrate protein (Probable). NA Belongs to the chaperonin (HSP60) family. RNA degradation;Type I diabetes mellitus;Legionellosis;Tuberculosis;Mitochondrial protein import;TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation PE1 2 +NX_P10826 Retinoic acid receptor beta 455 50489 8.04 0 Cytoplasm;Nucleoplasm;Nucleus Microphthalmia, syndromic, 12 Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence or presence of hormone ligand, acts mainly as an activator of gene expression due to weak binding to corepressors (PubMed:12554770). The RXRA/RARB heterodimer can act as a repressor on the DR1 element and as an activator on the DR5 element (PubMed:29021580). In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function (By similarity). NA Belongs to the nuclear hormone receptor family. NR1 subfamily. Pathways in cancer;Small cell lung cancer;Non-small cell lung cancer;Nuclear Receptor transcription pathway;Signaling by Retinoic Acid;Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 3 +NX_P10827 Thyroid hormone receptor alpha 490 54816 6.42 0 Cytoplasm;Cytosol;Nucleus Hypothyroidism, congenital, non-goitrous, 6 Does not bind thyroid hormone and functions as a weak dominant negative inhibitor of thyroid hormone action.;Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine. NA Belongs to the nuclear hormone receptor family. NR1 subfamily. Neuroactive ligand-receptor interaction;Nuclear Receptor transcription pathway;SUMOylation of intracellular receptors PE1 17 +NX_P10828 Thyroid hormone receptor beta 461 52788 6.68 0 Nucleus Generalized thyroid hormone resistance autosomal recessive;Generalized thyroid hormone resistance;Selective pituitary thyroid hormone resistance Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine. NA Belongs to the nuclear hormone receptor family. NR1 subfamily. Neuroactive ligand-receptor interaction;Nuclear Receptor transcription pathway;SUMOylation of intracellular receptors PE1 3 +NX_P10909 Clusterin 449 52495 5.89 0 Cytoplasm;Mitochondrion;Microsome;Secreted;Endoplasmic reticulum;Mitochondrion membrane;Cytosol;Perinuclear region;Chromaffin granule;Nucleus NA Does not affect caspase or BAX-mediated intrinsic apoptosis and TNF-induced NF-kappa-B-activity (PubMed:24073260). Promotes cell death through interaction with BCL2L1 that releases and activates BAX (PubMed:21567405).;Does not affect caspase or BAX-mediated intrinsic apoptosis and TNF-induced NF-kappa-B-activity.;Functions as extracellular chaperone that prevents aggregation of non native proteins (PubMed:11123922, PubMed:19535339). Prevents stress-induced aggregation of blood plasma proteins (PubMed:11123922, PubMed:12176985, PubMed:17260971, PubMed:19996109). Inhibits formation of amyloid fibrils by APP, APOC2, B2M, CALCA, CSN3, SNCA and aggregation-prone LYZ variants (in vitro) (PubMed:12047389, PubMed:17412999, PubMed:17407782). Does not require ATP (PubMed:11123922). Maintains partially unfolded proteins in a state appropriate for subsequent refolding by other chaperones, such as HSPA8/HSC70 (PubMed:11123922). Does not refold proteins by itself (PubMed:11123922). Binding to cell surface receptors triggers internalization of the chaperone-client complex and subsequent lysosomal or proteasomal degradation (PubMed:21505792). Protects cells against apoptosis and against cytolysis by complement (PubMed:2780565). Intracellular forms interact with ubiquitin and SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes and promote the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:20068069). Promotes proteasomal degradation of COMMD1 and IKBKB (PubMed:20068069). Modulates NF-kappa-B transcriptional activity (PubMed:12882985). A mitochondrial form suppresses BAX-dependent release of cytochrome c into the cytoplasm and inhibit apoptosis (PubMed:16113678, PubMed:17689225). Plays a role in the regulation of cell proliferation (PubMed:19137541). An intracellular form suppresses stress-induced apoptosis by stabilizing mitochondrial membrane integrity through interaction with HSPA5 (PubMed:22689054). Secreted form does not affect caspase or BAX-mediated intrinsic apoptosis and TNF-induced NF-kappa-B-activity (PubMed:24073260). Secreted form act as an important modulator during neuronal differentiation through interaction with STMN3 (By similarity). Plays a role in the clearance of immune complexes that arise during cell injury (By similarity). Proteolytically cleaved on its way through the secretory system, probably within the Golgi lumen (PubMed:2387851). Proteolytic cleavage is not necessary for its chaperone activity (PubMed:25402950). All non-secreted forms are not proteolytically cleaved (PubMed:24073260). Chaperone activity of uncleaved forms is dependent on a non-reducing envoronment (PubMed:25402950).;Extensively glycosylated with sulfated N-linked carbohydrates (PubMed:17260971, PubMed:2387851). About 30% of the protein mass is comprised of complex N-linked carbohydrate (PubMed:2387851). Endoplasmic reticulum (ER) stress induces changes in glycosylation status and increases level of hypoglycosylated forms (PubMed:22689054). Core carbohydrates are essential for chaperone activity (PubMed:25402950). Non-secreted forms are hypoglycosylated or unglycosylated (PubMed:24073260).;Polyubiquitinated, leading to proteasomal degradation (PubMed:17451556, PubMed:19137541). Under cellular stress, the intracellular level of cleaved form is reduced due to proteasomal degradation (PubMed:17451556). Belongs to the clusterin family. Terminal pathway of complement;Regulation of Complement cascade;Platelet degranulation;Antimicrobial peptides PE1 8 +NX_P10911 Proto-oncogene DBL 925 107673 5.72 0 Membrane;Cytoplasm NA Guanine nucleotide exchange factor (GEF) that modulates the Rho family of GTPases. Promotes the conversion of some member of the Rho family GTPase from the GDP-bound to the GTP-bound form.;Exhibits decreased GEF activity toward CDC42.;Exhibits no activity toward RHOA, RAC1 or CDC42.;Exhibits significant activity toward RHOA and CDC42. The truncated DBL oncogene is active toward RHOA, RAC1 and CDC42.;Exhibits a weak but significant activity toward RAC1 and CDC42. Phosphorylation by TNK2 enhances guanine nucleotide exchange factor (GEF) activity toward Rho family proteins.;MCF2 is phosphorylated by TNK2 (Phosphotyrosine:PTM-0255) Belongs to the MCF2 family. Axonal growth inhibition (RHOA activation);Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 X +NX_P10912 Growth hormone receptor 638 71500 4.76 1 Cytosol;Secreted;Cell membrane Growth hormone insensitivity, partial;Laron syndrome Up-regulates the production of GHBP and acts as a negative inhibitor of GH signaling.;The soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor of GH signaling.;Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand binding, couples to the JAK2/STAT5 pathway (By similarity). On ligand binding, ubiquitinated on lysine residues in the cytoplasmic domain. This ubiquitination is not sufficient for GHR internalization (By similarity).;The soluble form (GHBP) is produced by phorbol ester-promoted proteolytic cleavage at the cell surface (shedding) by ADAM17/TACE. Shedding is inhibited by growth hormone (GH) binding to the receptor probably due to a conformational change in GHR rendering the receptor inaccessible to ADAM17 (By similarity).;On GH binding, phosphorylated on tyrosine residues in the cytoplasmic domain by JAK2.;GHR is phosphorylated by JAK2 Belongs to the type I cytokine receptor family. Type 1 subfamily. Cytokine-cytokine receptor interaction;Neuroactive ligand-receptor interaction;Jak-STAT signaling pathway;Prolactin receptor signaling;Growth hormone receptor signaling PE1 5 +NX_P10914 Interferon regulatory factor 1 325 36502 5.22 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Gastric cancer Transcriptional regulator which displays a remarkable functional diversity in the regulation of cellular responses. These include the regulation of IFN and IFN-inducible genes, host response to viral and bacterial infections, regulation of many genes expressed during hematopoiesis, inflammation, immune responses and cell proliferation and differentiation, regulation of the cell cycle and induction of growth arrest and programmed cell death following DNA damage. Stimulates both innate and acquired immune responses through the activation of specific target genes and can act as a transcriptional activator and repressor regulating target genes by binding to an interferon-stimulated response element (ISRE) in their promoters. Its target genes for transcriptional activation activity include: genes involved in anti-viral response, such as IFN-alpha/beta, DDX58/RIG-I, TNFSF10/TRAIL, OAS1/2, PIAS1/GBP, EIF2AK2/PKR and RSAD2/viperin; antibacterial response, such as NOS2/INOS; anti-proliferative response, such as p53/TP53, LOX and CDKN1A; apoptosis, such as BBC3/PUMA, CASP1, CASP7 and CASP8; immune response, such as IL7, IL12A/B and IL15, PTGS2/COX2 and CYBB; DNA damage responses and DNA repair, such as POLQ/POLH; MHC class I expression, such as TAP1, PSMB9/LMP2, PSME1/PA28A, PSME2/PA28B and B2M and MHC class II expression, such as CIITA. Represses genes involved in anti-proliferative response, such as BIRC5/survivin, CCNB1, CCNE1, CDK1, CDK2 and CDK4 and in immune response, such as FOXP3, IL4, ANXA2 and TLR4. Stimulates p53/TP53-dependent transcription through enhanced recruitment of EP300 leading to increased acetylation of p53/TP53. Plays an important role in immune response directly affecting NK maturation and activity, macrophage production of IL12, Th1 development and maturation of CD8+ T-cells. Also implicated in the differentiation and maturation of dendritic cells and in the suppression of regulatory T (Treg) cells development. Acts as a tumor suppressor and plays a role not only in antagonism of tumor cell growth but also in stimulating an immune response against tumor cells. Phosphorylated by CK2 and this positively regulates its activity.;Ubiquitinated. Appears to compete with sumoylation on C-terminal sites.;Sumoylation represses the transcriptional activity and displays enhanced resistance to protein degradation. Inactivates the tumor suppressor activity. Elevated levels in tumor cells. Major site is Lys-275. Sumoylation is enhanced by PIAS3 (By similarity). Desumoylated by SENP1 in tumor cells and appears to compete with ubiquitination on C-terminal sites.;IRF1 is phosphorylated by CHUK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the IRF family. Pertussis;Hepatitis C;Factors involved in megakaryocyte development and platelet production;Interferon gamma signaling;Interferon alpha/beta signaling PE1 5 +NX_P10915 Hyaluronan and proteoglycan link protein 1 354 40166 7.1 0 Cytoplasmic vesicle;Extracellular matrix NA Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix. NA Belongs to the HAPLN family. ECM proteoglycans PE1 5 +NX_P10916 Myosin regulatory light chain 2, ventricular/cardiac muscle isoform 166 18789 4.92 0 A band;Cytoskeleton Cardiomyopathy, familial hypertrophic 10 Contractile protein that plays a role in heart development and function (By similarity). Following phosphorylation, plays a role in cross-bridge cycling kinetics and cardiac muscle contraction by increasing myosin lever arm stiffness and promoting myosin head diffusion; as a consequence of the increase in maximum contraction force and calcium sensitivity of contraction force. These events altogether slow down myosin kinetics and prolong duty cycle resulting in accumulated myosins being cooperatively recruited to actin binding sites to sustain thin filament activation as a means to fine-tune myofilament calcium sensitivity to force (By similarity). During cardiogenesis plays an early role in cardiac contractility by promoting cardiac myofibril assembly (By similarity). N-terminus is methylated by METTL11A/NTM1.;Phosphorylated by MYLK3 and MYLK2; promotes cardiac muscle contraction and function (By similarity). Dephosphorylated by PPP1CB complexed to PPP1R12B (By similarity). The phosphorylated form in adult is expressed as gradients across the heart from endocardium (low phosphorylation) to epicardium (high phosphorylation); regulates cardiac torsion and workload distribution (By similarity).;MYL2 is phosphorylated by DAPK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Cardiac muscle contraction;Focal adhesion;Tight junction;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;Striated Muscle Contraction PE1 12 +NX_P10966 T-cell surface glycoprotein CD8 beta chain 210 23722 10.03 1 Secreted;Cell membrane NA Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class I molecule:peptide complex. The antigens presented by class I peptides are derived from cytosolic proteins while class II derived from extracellular proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class I proteins presented by antigen presenting cells (APCs). In turn, recruits the Src kinase LCK to the vicinity of the TCR-CD3 complex. A palmitoylation site in the cytoplasmic tail of CD8B chain contributes to partitioning of CD8 into the plasma membrane lipid rafts where signaling proteins are enriched. Once LCK recruited, it initiates different intracellular signaling pathways by phosphorylating various substrates ultimately leading to lymphokine production, motility, adhesion and activation of cytotoxic T-lymphocytes (CTLs). Additionally, plays a critical role in thymic selection of CD8+ T-cells. Palmitoylated at the cytoplasmic tail and thereby targets the heterodimer CD8A/CD8B to lipid rafts unlike CD8A homodimers.;Phosphorylated as a consequence of T-cell activation. NA Cell adhesion molecules (CAMs);Antigen processing and presentation;Hematopoietic cell lineage;T cell receptor signaling pathway;Primary immunodeficiency;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Nef Mediated CD8 Down-regulation PE1 2 +NX_P10997 Islet amyloid polypeptide 89 9806 9.83 0 Secreted NA Selectively inhibits insulin-stimulated glucose utilization and glycogen deposition in muscle, while not affecting adipocyte glucose metabolism. Amyloid fibrils are degraded by IDE. Belongs to the calcitonin family. Maturity onset diabetes of the young;G alpha (s) signalling events;Regulation of gene expression in beta cells;Amyloid fiber formation;Calcitonin-like ligand receptors PE1 12 +NX_P11021 Endoplasmic reticulum chaperone BiP 654 72333 5.07 0 Cytoplasm;Cytosol;Endoplasmic reticulum lumen;Melanosome NA Endoplasmic reticulum chaperone that plays a key role in protein folding and quality control in the endoplasmic reticulum lumen (PubMed:2294010, PubMed:23769672, PubMed:23990668, PubMed:28332555). Involved in the correct folding of proteins and degradation of misfolded proteins via its interaction with DNAJC10/ERdj5, probably to facilitate the release of DNAJC10/ERdj5 from its substrate (By similarity). Acts as a key repressor of the ERN1/IRE1-mediated unfolded protein response (UPR) (PubMed:1550958, PubMed:19538957). In the unstressed endoplasmic reticulum, recruited by DNAJB9/ERdj4 to the luminal region of ERN1/IRE1, leading to disrupt the dimerization of ERN1/IRE1, thereby inactivating ERN1/IRE1 (By similarity). Accumulation of misfolded protein in the endoplasmic reticulum causes release of HSPA5/BiP from ERN1/IRE1, allowing homodimerization and subsequent activation of ERN1/IRE1 (By similarity). Plays an auxiliary role in post-translational transport of small presecretory proteins across endoplasmic reticulum (ER). May function as an allosteric modulator for SEC61 channel-forming translocon complex, likely cooperating with SEC62 to enable the productive insertion of these precursors into SEC61 channel. Appears to specifically regulate translocation of precursors having inhibitory residues in their mature region that weaken channel gating. AMPylated by FICD (PubMed:25601083). In unstressed cells, AMPylation at Thr-518 by FICD inactivates the chaperome activity: AMPylated form is locked in a relatively inert state and only weakly stimulated by J domain-containing proteins (By similarity). In response to endoplasmic reticulum stress, de-AMPylation by the same protein, FICD, restores the chaperone activity (By similarity). Belongs to the heat shock protein 70 family. Protein export;Protein processing in endoplasmic reticulum;Antigen processing and presentation;Prion diseases;Regulation of HSF1-mediated heat shock response;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;Platelet degranulation;ATF6 (ATF6-alpha) activates chaperones;PERK regulates gene expression;IRE1alpha activates chaperones;ATF6 (ATF6-alpha) activates chaperone genes PE1 9 +NX_P11047 Laminin subunit gamma-1 1609 177603 5.01 0 Endoplasmic reticulum;Basement membrane;Cell membrane NA Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. NA NA Focal adhesion;ECM-receptor interaction;Prion diseases;Toxoplasmosis;Amoebiasis;Pathways in cancer;Small cell lung cancer;Degradation of the extracellular matrix;ECM proteoglycans;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Non-integrin membrane-ECM interactions;L1CAM interactions;Laminin interactions;MET activates PTK2 signaling;Post-translational protein phosphorylation PE1 1 +NX_P11049 Leukocyte antigen CD37 281 31703 8.25 4 Membrane NA NA NA Belongs to the tetraspanin (TM4SF) family. Hematopoietic cell lineage PE1 19 +NX_P11055 Myosin-3 1940 223905 5.62 0 Myofibril Arthrogryposis, distal, 2A;Contractures, pterygia, and variable skeletal fusions syndrome 1A;Contractures, pterygia, and variable skeletal fusions syndrome 1B;Arthrogryposis, distal, 2B3 Muscle contraction. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Tight junction;Viral myocarditis;Striated Muscle Contraction PE1 17 +NX_P11086 Phenylethanolamine N-methyltransferase 282 30855 5.73 0 NA NA Converts noradrenaline to adrenaline. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. NNMT/PNMT/TEMT family. Catecholamine biosynthesis; (R)-adrenaline biosynthesis; (R)-adrenaline from (R)-noradrenaline: step 1/1.;Tyrosine metabolism;Metabolic pathways;Catecholamine biosynthesis PE1 17 +NX_P11117 Lysosomal acid phosphatase 423 48344 6.28 1 Lysosome membrane;Lysosome lumen NA NA N-glycosylated. The intermediates formed during enzymatic deglycosylation suggest that all eight predicted N-glycosylation sites are used.;The membrane-bound form is converted to the soluble form by sequential proteolytic processing. First, the C-terminal cytoplasmic tail is removed. Cleavage by a lysosomal protease releases the soluble form in the lysosome lumen. Belongs to the histidine acid phosphatase family. Riboflavin metabolism;Lysosome PE1 11 +NX_P11137 Microtubule-associated protein 2 1827 199526 4.82 0 Dendrite;Cytoskeleton NA The exact function of MAP2 is unknown but MAPs may stabilize the microtubules against depolymerization. They also seem to have a stiffening effect on microtubules. Is probably phosphorylated by PKA at Ser-323, Ser-354 and Ser-386 and by FYN at Tyr-67. The interaction with KNDC1 enhances MAP2 threonine phosphorylation (By similarity).;Phosphorylated at serine residues in K-X-G-S motifs by MAP/microtubule affinity-regulating kinase (MARK1 or MARK2), causing detachment from microtubules, and their disassembly (By similarity).;MAP2 is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA NA PE1 2 +NX_P11142 Heat shock cognate 71 kDa protein 646 70898 5.37 0 Cytoplasm;Melanosome;Nucleolus;Cell membrane NA Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation (PubMed:21150129, PubMed:21148293, PubMed:24732912, PubMed:27916661, PubMed:23018488). This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones (PubMed:21150129, PubMed:21148293, PubMed:24732912, PubMed:27916661, PubMed:23018488). The co-chaperones have been shown to not only regulate different steps of the ATPase cycle of HSP70, but they also have an individual specificity such that one co-chaperone may promote folding of a substrate while another may promote degradation (PubMed:21150129, PubMed:21148293, PubMed:24732912, PubMed:27916661, PubMed:23018488). The affinity of HSP70 for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. HSP70 goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release. The HSP70-associated co-chaperones are of three types: J-domain co-chaperones HSP40s (stimulate ATPase hydrolysis by HSP70), the nucleotide exchange factors (NEF) such as BAG1/2/3 (facilitate conversion of HSP70 from the ADP-bound to the ATP-bound state thereby promoting substrate release), and the TPR domain chaperones such as HOPX and STUB1 (PubMed:24318877, PubMed:27474739, PubMed:24121476, PubMed:26865365). Acts as a repressor of transcriptional activation. Inhibits the transcriptional coactivator activity of CITED1 on Smad-mediated transcription. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. Binds bacterial lipopolysaccharide (LPS) and mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:10722728, PubMed:11276205). Participates in the ER-associated degradation (ERAD) quality control pathway in conjunction with J domain-containing co-chaperones and the E3 ligase STUB1 (PubMed:23990462). Interacts with VGF-derived peptide TLQP-21 (PubMed:28934328). Trimethylation at Lys-561 reduces fibrillar SNCA binding.;ISGylated.;Acetylated. Belongs to the heat shock protein 70 family. Spliceosome;MAPK signaling pathway;Protein processing in endoplasmic reticulum;Endocytosis;Antigen processing and presentation;Legionellosis;Toxoplasmosis;Measles;Influenza A;AUF1 (hnRNP D0) binds and destabilizes mRNA;Regulation of HSF1-mediated heat shock response;mRNA Splicing - Major Pathway;Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis;GABA synthesis, release, reuptake and degradation;Attenuation phase;HSF1-dependent transactivation;CHL1 interactions;Clathrin-mediated endocytosis;Neutrophil degranulation;Interleukin-4 and Interleukin-13 signaling;Protein methylation;HSP90 chaperone cycle for steroid hormone receptors (SHR);Chaperone Mediated Autophagy;Lipophagy;Microautophagy PE1 11 +NX_P11150 Hepatic triacylglycerol lipase 499 55914 9.22 0 Secreted Hepatic lipase deficiency Hepatic lipase has the capacity to catalyze hydrolysis of phospholipids, mono-, di-, and triglycerides, and acyl-CoA thioesters. It is an important enzyme in HDL metabolism. Hepatic lipase binds heparin. NA Belongs to the AB hydrolase superfamily. Lipase family. Glycerolipid metabolism;Metabolic pathways;Assembly of active LPL and LIPC lipase complexes;Chylomicron clearance PE1 15 +NX_P11161 E3 SUMO-protein ligase EGR2 476 50302 9.02 0 Nucleoplasm;Nucleus Neuropathy, congenital hypomyelinating, 1, autosomal recessive;Charcot-Marie-Tooth disease 1D;Dejerine-Sottas syndrome Sequence-specific DNA-binding transcription factor. Binds to two specific DNA sites located in the promoter region of HOXA4.;E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 own transcriptional activity. Ubiquitinated by WWP2 leading to proteasomal degradation. Belongs to the EGR C2H2-type zinc-finger protein family. Protein modification; protein sumoylation.;Transcriptional regulation of white adipocyte differentiation;Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 10 +NX_P11166 Solute carrier family 2, facilitated glucose transporter member 1 492 54084 8.93 12 Melanosome;Cell membrane Epilepsy, idiopathic generalized 12;Dystonia 9;Stomatin-deficient cryohydrocytosis with neurologic defects;GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 2 Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:10227690). Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses (PubMed:18245775, PubMed:19449892). Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative transport of glucose into the brain (PubMed:10227690). Phosphorylation at Ser-226 by PKC promotes glucose uptake by increasing cell membrane localization. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. Carbohydrate degradation.;Adipocytokine signaling pathway;Bile secretion;HTLV-I infection;Pathways in cancer;Renal cell carcinoma;Vitamin C (ascorbate) metabolism;Regulation of insulin secretion;Cellular hexose transport;Lactose synthesis;Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1) PE1 1 +NX_P11168 Solute carrier family 2, facilitated glucose transporter member 2 524 57490 8.09 12 Cell membrane Fanconi-Bickel syndrome Facilitative hexose transporter that mediates the transport of glucose and fructose (PubMed:8027028, PubMed:16186102, PubMed:23396969, PubMed:28083649). Likely mediates the bidirectional transfer of glucose across the plasma membrane of hepatocytes and is responsible for uptake of glucose by the beta cells; may comprise part of the glucose-sensing mechanism of the beta cell (PubMed:8027028). May also participate with the Na(+)/glucose cotransporter in the transcellular transport of glucose in the small intestine and kidney (PubMed:3399500). Also able to mediate the transport of dehydroascorbate (PubMed:23396969). N-glycosylated; required for stability and retention at the cell surface of pancreatic beta cells. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. Type II diabetes mellitus;Maturity onset diabetes of the young;Carbohydrate digestion and absorption;Regulation of gene expression in beta cells;Regulation of insulin secretion;Cellular hexose transport;Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS);Intestinal hexose absorption PE1 3 +NX_P11169 Solute carrier family 2, facilitated glucose transporter member 3 496 53924 6.84 12 Perikaryon;Cell projection;Cell membrane NA Facilitative glucose transporter that can also mediate the uptake of various other monosaccharides across the cell membrane (PubMed:9477959, PubMed:26176916). Mediates the uptake of glucose, 2-deoxyglucose, galactose, mannose, xylose and fucose, and probably also dehydroascorbate (PubMed:9477959, PubMed:26176916). Does not mediate fructose transport (PubMed:9477959, PubMed:26176916). NA Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. Vitamin C (ascorbate) metabolism;Cellular hexose transport;Neutrophil degranulation;MECP2 regulates neuronal receptors and channels PE1 12 +NX_P11171 Protein 4.1 864 97017 5.42 0 Cell cortex;Cell membrane;Cell junction;Cytosol;Spindle;Nucleus;Cytoskeleton Elliptocytosis 1 Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes. Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127). O-glycosylated; contains N-acetylglucosamine side chains in the C-terminal domain.;Phosphorylation on Tyr-660 reduces the ability of 4.1 to promote the assembly of the spectrin/actin/4.1 ternary complex.;Phosphorylated at multiple sites by different protein kinases and each phosphorylation event selectively modulates the protein's functions. NA Tight junction;Neurexins and neuroligins PE1 1 +NX_P11172 Uridine 5'-monophosphate synthase 480 52222 6.81 0 Cytosol Orotic aciduria 1 NA NA In the N-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.;In the C-terminal section; belongs to the OMP decarboxylase family. Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate: step 2/2.;Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate: step 1/2.;Pyrimidine metabolism;Drug metabolism - other enzymes;Metabolic pathways;Pyrimidine biosynthesis PE1 3 +NX_P11177 Pyruvate dehydrogenase E1 component subunit beta, mitochondrial 359 39233 6.2 0 Mitochondrion matrix;Cytoplasm;Nucleoplasm;Mitochondrion Pyruvate dehydrogenase E1-beta deficiency The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle. NA NA Glycolysis / Gluconeogenesis;Citrate cycle (TCA cycle);Valine, leucine and isoleucine biosynthesis;Pyruvate metabolism;Butanoate metabolism;Metabolic pathways;Signaling by Retinoic Acid;Regulation of pyruvate dehydrogenase (PDH) complex;Pyruvate metabolism;Glyoxylate metabolism and glycine degradation PE1 3 +NX_P11182 Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial 482 53487 8.71 0 Mitochondrion matrix;Mitochondrion Maple syrup urine disease 2 The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component. NA Belongs to the 2-oxoacid dehydrogenase family. Valine, leucine and isoleucine degradation;Metabolic pathways;Branched-chain amino acid catabolism;Glyoxylate metabolism and glycine degradation PE1 1 +NX_P11215 Integrin alpha-M 1152 127179 6.88 1 Membrane raft;Cell membrane Systemic lupus erythematosus 6 Integrin ITGAM/ITGB2 is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles and pathogens (PubMed:9558116, PubMed:20008295). It is identical with CR-3, the receptor for the iC3b fragment of the third complement component. It probably recognizes the R-G-D peptide in C3b. Integrin ITGAM/ITGB2 is also a receptor for fibrinogen, factor X and ICAM1. It recognizes P1 and P2 peptides of fibrinogen gamma chain. Regulates neutrophil migration (PubMed:28807980). In association with beta subunit ITGB2/CD18, required for CD177-PRTN3-mediated activation of TNF primed neutrophils (PubMed:21193407). May regulate phagocytosis-induced apoptosis in extravasated neutrophils (By similarity). May play a role in mast cell development (By similarity). Required with TYROBP/DAP12 in microglia to control production of microglial superoxide ions which promote the neuronal apoptosis that occurs during brain development (By similarity). NA Belongs to the integrin alpha chain family. Phagosome;Cell adhesion molecules (CAMs);Hematopoietic cell lineage;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Pertussis;Legionellosis;Leishmaniasis;Amoebiasis;Staphylococcus aureus infection;Tuberculosis;Toll Like Receptor 4 (TLR4) Cascade;Integrin cell surface interactions;Cell surface interactions at the vascular wall;Neutrophil degranulation;Interleukin-4 and Interleukin-13 signaling PE1 16 +NX_P11216 Glycogen phosphorylase, brain form 843 96696 6.4 0 Cytosol NA Glycogen phosphorylase that regulates glycogen mobilization (PubMed:27402852). Phosphorylase is an important allosteric enzyme in carbohydrate metabolism (PubMed:3346228). Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates (PubMed:3346228). However, all known phosphorylases share catalytic and structural properties (PubMed:3346228). Phosphorylated (PubMed:27402852). Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A (By similarity). Belongs to the glycogen phosphorylase family. Starch and sucrose metabolism;Insulin signaling pathway;Glycogen breakdown (glycogenolysis);Neutrophil degranulation PE1 20 +NX_P11217 Glycogen phosphorylase, muscle form 842 97092 6.57 0 NA Glycogen storage disease 5 Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties. Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A.;PYGM is phosphorylated by LMTK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);PYGM is phosphorylated by PHKG2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);PYGM is phosphorylated by PHKG1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the glycogen phosphorylase family. Starch and sucrose metabolism;Insulin signaling pathway;Glycogen breakdown (glycogenolysis) PE1 11 +NX_P11226 Mannose-binding protein C 248 26144 5.39 0 Secreted NA Calcium-dependent lectin involved in innate immune defense. Binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. Binds to late apoptotic cells, as well as to apoptotic blebs and to necrotic cells, but not to early apoptotic cells, facilitating their uptake by macrophages. May bind DNA. NA NA Phagosome;Complement and coagulation cascades;Staphylococcus aureus infection;Initial triggering of complement;Lectin pathway of complement activation PE1 10 +NX_P11229 Muscarinic acetylcholine receptor M1 460 51421 9.45 7 Nucleoplasm;Cytosol;Cell membrane;Postsynaptic cell membrane NA The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover. NA Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM1 sub-subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Cholinergic synapse;Regulation of actin cytoskeleton;G alpha (q) signalling events;Muscarinic acetylcholine receptors PE1 11 +NX_P11230 Acetylcholine receptor subunit beta 501 56698 5.5 4 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 2A, slow-channel;Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-1/CHRNB1 sub-subfamily. Neuroactive ligand-receptor interaction PE1 17 +NX_P11233 Ras-related protein Ral-A 206 23567 6.66 0 Midbody ring;Focal adhesion;Cleavage furrow;Cell membrane NA Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles. The RALA-exocyst complex regulates integrin-dependent membrane raft exocytosis and growth signaling (PubMed:20005108). Key regulator of LPAR1 signaling and competes with GRK2 for binding to LPAR1 thus affecting the signaling properties of the receptor. Required for anchorage-independent proliferation of transformed cells (PubMed:19306925). During mitosis, supports the stabilization and elongation of the intracellular bridge between dividing cells. Cooperates with EXOC2 to recruit other components of the exocyst to the early midbody (PubMed:18756269). Prenylation is essential for membrane localization. The geranylgeranylated form and the farnesylated mutant do not undergo alternative prenylation in response to geranylgeranyltransferase I inhibitors (GGTIs) and farnesyltransferase I inhibitors (FTIs). Belongs to the small GTPase superfamily. Ras family. Pathways in cancer;Pancreatic cancer;Translocation of SLC2A4 (GLUT4) to the plasma membrane;p38MAPK events;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 7 +NX_P11234 Ras-related protein Ral-B 206 23409 6.24 0 Midbody;Cell membrane NA Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles (By similarity). Required both to stabilize the assembly of the exocyst complex and to localize functional exocyst complexes to the leading edge of migrating cells (By similarity). Required for suppression of apoptosis (PubMed:17875936). In late stages of cytokinesis, upon completion of the bridge formation between dividing cells, mediates exocyst recruitment to the midbody to drive abscission (PubMed:18756269). The farnesylated form confers resistance to the proapoptotic and anti-anchorage-dependent growth effects of geranylgeranyltransferase I inhibitors, including GGTI-2417.;Prenylation is essential for membrane localization. The geranylgeranylated form and the farnesylated mutant does not undergo alternative prenylation in response to geranylgeranyltransferase I inhibitors (GGTIs) and farnesyltransferase I inhibitors (FTIs). Belongs to the small GTPase superfamily. Ras family. Pathways in cancer;Pancreatic cancer;p38MAPK events PE1 2 +NX_P11245 Arylamine N-acetyltransferase 2 290 33542 5.6 0 Cytoplasm NA Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens. NA Belongs to the arylamine N-acetyltransferase family. Caffeine metabolism;Drug metabolism - other enzymes;Metabolic pathways;Acetylation PE1 8 +NX_P11274 Breakpoint cluster region protein 1271 142819 6.62 0 Dendritic spine;Nucleoplasm;Postsynaptic density;Synapse;Cytosol;Axon Leukemia, chronic myeloid Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein (GAP) domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form (PubMed:7479768, PubMed:1903516, PubMed:17116687). The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GDP-bound to the GTP-bound form (PubMed:7479768, PubMed:23940119). The amino terminus contains an intrinsic kinase activity (PubMed:1657398). Functions as an important negative regulator of neuronal RAC1 activity (By similarity). Regulates macrophage functions such as CSF1-directed motility and phagocytosis through the modulation of RAC1 activity (PubMed:17116687). Plays a major role as a RHOA GEF in keratinocytes being involved in focal adhesion formation and keratinocyte differentiation (PubMed:23940119). Autophosphorylated. Phosphorylated by FES/FPS on tyrosine residues, leading to down-regulation of the BCR kinase activity. Phosphorylation at Tyr-177 by HCK is important for interaction with GRB2.;BCR is phosphorylated by FES (Phosphotyrosine:PTM-0255) NA Pathways in cancer;Chronic myeloid leukemia;Signaling by FGFR1 in disease;Rho GTPase cycle;Signaling by cytosolic FGFR1 fusion mutants PE1 22 +NX_P11277 Spectrin beta chain, erythrocytic 2137 246468 5.15 0 Cytosol;Cell cortex;Cytoskeleton Spherocytosis 2;Elliptocytosis 3 Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane. The first phosphorylation event occurs on Ser-2114, followed by Ser-2125, Ser-2123, Ser-2128, Ser-2117, and Thr-2110. Belongs to the spectrin family. RAF/MAP kinase cascade;Interaction between L1 and Ankyrins;NCAM signaling for neurite out-growth;COPI-mediated anterograde transport PE1 14 +NX_P11279 Lysosome-associated membrane glycoprotein 1 417 44882 9 1 Lysosome membrane;Cell membrane;Late endosome;Endosome membrane NA Presents carbohydrate ligands to selectins. Also implicated in tumor cell metastasis.;Acts as a receptor for Lassa virus protein. O- and N-glycosylated; some of the 18 N-linked glycans are polylactosaminoglycans. The glycosylation of N-76 is essential for Lassa virus entry into cells. Belongs to the LAMP family. Lysosome;Phagosome;Tuberculosis;Neutrophil degranulation PE1 13 +NX_P11308 Transcriptional regulator ERG 486 54608 7.01 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus Ewing sarcoma Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure. NA Belongs to the ETS family. NA PE1 21 +NX_P11309 Serine/threonine-protein kinase pim-1 313 35686 5.72 0 Cytoplasm;Cell membrane;Nucleolus;Cytosol;Nucleus NA Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation and thus providing a selective advantage in tumorigenesis. Exerts its oncogenic activity through: the regulation of MYC transcriptional activity, the regulation of cell cycle progression and by phosphorylation and inhibition of proapoptotic proteins (BAD, MAP3K5, FOXO3). Phosphorylation of MYC leads to an increase of MYC protein stability and thereby an increase of transcriptional activity. The stabilization of MYC exerted by PIM1 might explain partly the strong synergism between these two oncogenes in tumorigenesis. Mediates survival signaling through phosphorylation of BAD, which induces release of the anti-apoptotic protein Bcl-X(L)/BCL2L1. Phosphorylation of MAP3K5, an other proapoptotic protein, by PIM1, significantly decreases MAP3K5 kinase activity and inhibits MAP3K5-mediated phosphorylation of JNK and JNK/p38MAPK subsequently reducing caspase-3 activation and cell apoptosis. Stimulates cell cycle progression at the G1-S and G2-M transitions by phosphorylation of CDC25A and CDC25C. Phosphorylation of CDKN1A, a regulator of cell cycle progression at G1, results in the relocation of CDKN1A to the cytoplasm and enhanced CDKN1A protein stability. Promote cell cycle progression and tumorigenesis by down-regulating expression of a regulator of cell cycle progression, CDKN1B, at both transcriptional and post-translational levels. Phosphorylation of CDKN1B, induces 14-3-3 proteins binding, nuclear export and proteasome-dependent degradation. May affect the structure or silencing of chromatin by phosphorylating HP1 gamma/CBX3. Acts also as a regulator of homing and migration of bone marrow cells involving functional interaction with the CXCL12-CXCR4 signaling axis. Also phosphorylates and activates the ATP-binding cassette transporter ABCG2, allowing resistance to drugs through their excretion from cells (PubMed:18056989). Autophosphorylated on both serine/threonine and tyrosine residues. Phosphorylated. Interaction with PPP2CA promotes dephosphorylation.;Ubiquitinated, leading to proteasomal degradation. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. PIM subfamily. Jak-STAT signaling pathway;Acute myeloid leukemia;Interleukin-4 and Interleukin-13 signaling PE1 6 +NX_P11310 Medium-chain specific acyl-CoA dehydrogenase, mitochondrial 421 46588 8.61 0 Mitochondrion matrix;Mitochondrion Acyl-CoA dehydrogenase medium-chain deficiency Acyl-CoA dehydrogenase specific for acyl chain lengths of 4 to 16 that catalyzes the initial step of fatty acid beta-oxidation. Utilizes the electron transfer flavoprotein (ETF) as an electron acceptor to transfer electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase). Acetylation at Lys-307 and Lys-311 in proximity of the cofactor-binding sites reduces catalytic activity (By similarity). These sites are deacetylated by SIRT3. Belongs to the acyl-CoA dehydrogenase family. Lipid metabolism; mitochondrial fatty acid beta-oxidation.;Fatty acid metabolism;Valine, leucine and isoleucine degradation;beta-Alanine metabolism;Propanoate metabolism;Metabolic pathways;PPAR signaling pathway;PPARA activates gene expression;mitochondrial fatty acid beta-oxidation of unsaturated fatty acids;Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA;Beta oxidation of octanoyl-CoA to hexanoyl-CoA PE1 1 +NX_P11362 Fibroblast growth factor receptor 1 822 91868 5.82 1 Cytoplasmic vesicle;Cytosol;Nucleus;Cell membrane Hartsfield syndrome;Jackson-Weiss syndrome;Pfeiffer syndrome;Trigonocephaly 1;Encephalocraniocutaneous lipomatosis;Osteoglophonic dysplasia;Hypogonadotropic hypogonadism 2 with or without anosmia Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Promotes phosphorylation of SHC1, STAT1 and PTPN11/SHP2. In the nucleus, enhances RPS6KA1 and CREB1 activity and contributes to the regulation of transcription. FGFR1 signaling is down-regulated by IL17RD/SEF, and by FGFR1 ubiquitination, internalization and degradation. Autophosphorylated. Binding of FGF family members together with heparan sulfate proteoglycan or heparin promotes receptor dimerization and autophosphorylation on tyrosine residues. Autophosphorylation occurs in trans between the two FGFR molecules present in the dimer and proceeds in a highly ordered manner. Initial autophosphorylation at Tyr-653 increases the kinase activity by a factor of 50 to 100. After this, Tyr-583 becomes phosphorylated, followed by phosphorylation of Tyr-463, Tyr-766, Tyr-583 and Tyr-585. In a third stage, Tyr-654 is autophosphorylated, resulting in a further tenfold increase of kinase activity. Phosphotyrosine residues provide docking sites for interacting proteins and so are crucial for FGFR1 function and its regulation.;N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form in the Golgi apparatus.;Ubiquitinated. FGFR1 is rapidly ubiquitinated by NEDD4 after autophosphorylation, leading to internalization and lysosomal degradation. CBL is recruited to activated FGFR1 via FRS2 and GRB2, and mediates ubiquitination and subsequent degradation of FGFR1. Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily. MAPK signaling pathway;Adherens junction;Regulation of actin cytoskeleton;Pathways in cancer;Prostate cancer;Melanoma;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;Signaling by activated point mutants of FGFR1;FGFR1c ligand binding and activation;FGFR1c and Klotho ligand binding and activation;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade: FGFR1;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;Negative regulation of FGFR1 signaling;Signaling by FGFR1 in disease;Signal transduction by L1;NCAM signaling for neurite out-growth;FGFR1b ligand binding and activation;Signaling by FGFR1 amplification mutants;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Downstream signaling of activated FGFR1;Signaling by plasma membrane FGFR1 fusions PE1 8 +NX_P11387 DNA topoisomerase 1 765 90726 9.33 0 Nucleoplasm;Nucleolus;Nucleus NA Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 5'-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, thus removing DNA supercoils. Finally, in the religation step, the DNA 5'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity). Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells. Involved in the circadian transcription of the core circadian clock component ARNTL/BMAL1 by altering the chromatin structure around the ROR response elements (ROREs) on the ARNTL/BMAL1 promoter. Phosphorylation at Ser-506 by CK2 increases binding to supercoiled DNA and sensitivity to camptothecin.;Sumoylated. Lys-117 is the main site of sumoylation. Sumoylation plays a role in partitioning TOP1 between nucleoli and nucleoplasm. Levels are dramatically increased on camptothecin (CPT) treatment. Belongs to the type IB topoisomerase family. SUMOylation of DNA replication proteins PE1 20 +NX_P11388 DNA topoisomerase 2-alpha 1531 174385 8.82 0 Nucleoplasm;Cytoplasm;Nucleolus NA Control of topological states of DNA by transient breakage and subsequent rejoining of DNA strands. Topoisomerase II makes double-strand breaks. Essential during mitosis and meiosis for proper segregation of daughter chromosomes. May play a role in regulating the period length of ARNTL/BMAL1 transcriptional oscillation (By similarity). Phosphorylation has no effect on catalytic activity. However, phosphorylation at Ser-1106 by CSNK1D/CK1 promotes DNA cleavable complex formation.;TOP2A is phosphorylated by PRKCD (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the type II topoisomerase family. SUMOylation of DNA replication proteins;Transcription of E2F targets under negative control by DREAM complex PE1 17 +NX_P11413 Glucose-6-phosphate 1-dehydrogenase 515 59257 6.39 0 Cytoplasm;Cytosol;Centriolar satellite Anemia, non-spherocytic hemolytic, due to G6PD deficiency Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide reducing power (NADPH) and pentose phosphates for fatty acid and nucleic acid synthesis. Acetylated by ELP3 at Lys-403; acetylation inhibits its homodimerization and enzyme activity. Deacetylated by SIRT2 at Lys-403; deacetylation stimulates its enzyme activity. Belongs to the glucose-6-phosphate dehydrogenase family. Carbohydrate degradation; pentose phosphate pathway; D-ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage): step 1/3.;Pentose phosphate pathway;Glutathione metabolism;Metabolic pathways;Pentose phosphate pathway;TP53 Regulates Metabolic Genes PE1 X +NX_P11441 Ubiquitin-like protein 4A 157 17777 8.71 0 Nucleoplasm;Cytosol;Nucleus NA As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches-containing proteins in a soluble state and participates to their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20676083, PubMed:21636303, PubMed:21743475, PubMed:28104892). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20676083, PubMed:28104892, PubMed:25535373). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated and sorted to the proteasome (PubMed:28104892). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303). Polyubiquitinated. Ubiquitination by AMFR and deubiquitination by USP13 may regulate the interaction between the BAG6/BAT3 complex and SGTA and therefore may regulate client proteins fate. NA Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 X +NX_P11464 Pregnancy-specific beta-1-glycoprotein 1 419 47223 8.32 0 Secreted NA NA NA Belongs to the immunoglobulin superfamily. CEA family. Cell surface interactions at the vascular wall PE1 19 +NX_P11465 Pregnancy-specific beta-1-glycoprotein 2 335 37216 7.66 0 Secreted NA NA NA Belongs to the immunoglobulin superfamily. CEA family. Cell surface interactions at the vascular wall PE1 19 +NX_P11473 Vitamin D3 receptor 427 48289 6.08 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton Rickets vitamin D-dependent 2A Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells (PubMed:28698609, PubMed:16913708, PubMed:15728261, PubMed:10678179). Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR (PubMed:28698609). The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes (PubMed:28698609). Plays a central role in calcium homeostasis (By similarity). NA Belongs to the nuclear hormone receptor family. NR1 subfamily. Endocrine and other factor-regulated calcium reabsorption;Mineral absorption;Tuberculosis;Vitamin D (calciferol) metabolism;Nuclear Receptor transcription pathway;SUMOylation of intracellular receptors PE1 12 +NX_P11474 Steroid hormone receptor ERR1 423 45510 6.01 0 Cytoplasm;Nucleolus;Nucleoplasm;Nucleus;Cytoskeleton NA Binds to an ERR-alpha response element (ERRE) containing a single consensus half-site, 5'-TNAAGGTCA-3'. Can bind to the medium-chain acyl coenzyme A dehydrogenase (MCAD) response element NRRE-1 and may act as an important regulator of MCAD promoter. Binds to the C1 region of the lactoferrin gene promoter. Requires dimerization and the coactivator, PGC-1A, for full activity. The ERRalpha/PGC1alpha complex is a regulator of energy metabolism. Induces the expression of PERM1 in the skeletal muscle. Phosphorylation on Ser-19 enhances sumoylation on Lys-14 increasing repression of transcriptional activity.;Sumoylated with SUMO2. Main site is Lys-14 which is enhanced by phosphorylation on Ser-19, cofactor activation, and by interaction with PIAS4. Sumoylation enhances repression of transcriptional activity, but has no effect on subcellular location nor on DNA binding.;Reversibly acetylated. Acetylation by PCAF/KAT2 at Lys-129, Lys-138, Lys-160 and Lys-162 and PCAF/KAT2 decreases transcriptional activity probably by inhibiting DNA-binding activity; deacetylation involves SIRT1 and HDAC8 and increases DNA-binding.;ESRRA is phosphorylated by CDK7 Belongs to the nuclear hormone receptor family. NR3 subfamily. PPARA activates gene expression;Transcriptional activation of mitochondrial biogenesis;Nuclear Receptor transcription pathway;Regulation of RUNX2 expression and activity PE1 11 +NX_P11487 Fibroblast growth factor 3 239 26887 10.88 0 Secreted Deafness with labyrinthine aplasia, microtia and microdontia Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development. NA Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;RAF/MAP kinase cascade;FGFR2b ligand binding and activation;PI3K Cascade;PIP3 activates AKT signaling;Activated point mutants of FGFR2;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade: FGFR1;Phospholipase C-mediated cascade, FGFR2;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Signaling by FGFR2 in disease;FGFR1b ligand binding and activation;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Downstream signaling of activated FGFR1;FGFRL1 modulation of FGFR1 signaling PE1 11 +NX_P11488 Guanine nucleotide-binding protein G(t) subunit alpha-1 350 40041 5.4 0 Membrane;Photoreceptor outer segment Night blindness, congenital stationary, autosomal dominant 3;Night blindness, congenital stationary, 1G Functions as signal transducer for the rod photoreceptor RHO. Required for normal RHO-mediated light perception by the retina (PubMed:22190596). Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs), such as the photoreceptor RHO. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Activated RHO promotes GDP release and GTP binding. Signaling is mediated via downstream effector proteins, such as cGMP-phosphodiesterase (By similarity). NA Belongs to the G-alpha family. G(i/o/t/z) subfamily. Phototransduction;G alpha (i) signalling events;Activation of the phototransduction cascade;Inactivation, recovery and regulation of the phototransduction cascade;G-protein activation;PLC beta mediated events;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding PE1 3 +NX_P11498 Pyruvate carboxylase, mitochondrial 1178 129634 6.37 0 Mitochondrion matrix;Mitochondrion Pyruvate carboxylase deficiency Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate. Acetylation of Lys-748 might play a role in catalytic activity regulation. NA Carbohydrate biosynthesis; gluconeogenesis.;Citrate cycle (TCA cycle);Pyruvate metabolism;Metabolic pathways;Gluconeogenesis;Biotin transport and metabolism;Defective HLCS causes multiple carboxylase deficiency PE1 11 +NX_P11509 Cytochrome P450 2A6 494 56517 9.24 0 Microsome membrane;Endoplasmic reticulum membrane NA Exhibits a high coumarin 7-hydroxylase activity. Can act in the hydroxylation of the anti-cancer drugs cyclophosphamide and ifosphamide. Competent in the metabolic activation of aflatoxin B1. Constitutes the major nicotine C-oxidase. Acts as a 1,4-cineole 2-exo-monooxygenase. Possesses low phenacetin O-deethylation activity. NA Belongs to the cytochrome P450 family. Caffeine metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Xenobiotics;CYP2E1 reactions PE1 19 +NX_P11511 Aromatase 503 57883 7.2 2 Endoplasmic reticulum membrane;Endoplasmic reticulum;Microsome membrane;Mitochondrion Aromatase deficiency;Aromatase excess syndrome A cytochrome P450 monooxygenase that catalyzes the conversion of C19 androgens, androst-4-ene-3,17-dione (androstenedione) and testosterone to the C18 estrogens, estrone and estradiol, respectively (PubMed:27702664, PubMed:2848247). Catalyzes three successive oxidations of C19 androgens: two conventional oxidations at C19 yielding 19-hydroxy and 19-oxo/19-aldehyde derivatives, followed by a third oxidative aromatization step that involves C1-beta hydrogen abstraction combined with cleavage of the C10-C19 bond to yield a phenolic A ring and formic acid (PubMed:20385561). Alternatively, the third oxidative reaction yields a 19-norsteroid and formic acid. Converts dihydrotestosterone to delta1,10-dehydro 19-nordihydrotestosterone and may play a role in homeostasis of this potent androgen (PubMed:22773874). Also displays 2-hydroxylase activity toward estrone (PubMed:22773874). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:20385561, PubMed:22773874). Phosphorylated in vitro by PKA and PKG/PRKG1. These phosphorylations inhibit the catalytic activity as measured by estrone synthesis from androstenedione (36% decrease for PKA and 30% for PKG/PRKG1). Belongs to the cytochrome P450 family. Steroid hormone biosynthesis.;Steroid hormone biosynthesis;Metabolic pathways;Endogenous sterols;Estrogen biosynthesis;Defective CYP19A1 causes Aromatase excess syndrome (AEXS) PE1 15 +NX_P11532 Dystrophin 3685 426750 5.64 0 Postsynaptic cell membrane;Sarcolemma;Cytoskeleton Duchenne muscular dystrophy;Becker muscular dystrophy;Cardiomyopathy, dilated, X-linked 3B Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. NA NA Striated Muscle Contraction;Non-integrin membrane-ECM interactions PE1 X +NX_P11586 C-1-tetrahydrofolate synthase, cytoplasmic 935 101559 6.89 0 Cytoplasm;Cytosol Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia;Colorectal cancer;Neural tube defects, folate-sensitive NA NA In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.;In the C-terminal section; belongs to the formate--tetrahydrofolate ligase family. One-carbon metabolism; tetrahydrofolate interconversion.;One carbon pool by folate;Metabolic pathways;Metabolism of folate and pterines PE1 14 +NX_P11597 Cholesteryl ester transfer protein 493 54756 5.7 0 Extracellular space Hyperalphalipoproteinemia 1 Involved in the transfer of neutral lipids, including cholesteryl ester and triglyceride, among lipoprotein particles. Allows the net movement of cholesteryl ester from high density lipoproteins/HDL to triglyceride-rich very low density lipoproteins/VLDL, and the equimolar transport of triglyceride from VLDL to HDL (PubMed:3600759, PubMed:24293641). Regulates the reverse cholesterol transport, by which excess cholesterol is removed from peripheral tissues and returned to the liver for elimination (PubMed:17237796). NA Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. LDL remodeling;HDL remodeling PE1 16 +NX_P11678 Eosinophil peroxidase 715 81040 10.31 0 Cytoplasmic granule Eosinophil peroxidase deficiency Mediates tyrosine nitration of secondary granule proteins in mature resting eosinophils. Shows significant inhibitory activity towards Mycobacterium tuberculosis H37Rv by inducing bacterial fragmentation and lysis. NA Belongs to the peroxidase family. XPO subfamily. Asthma;Neutrophil degranulation PE1 17 +NX_P11684 Uteroglobin 91 9994 4.99 0 Secreted NA Binds phosphatidylcholine, phosphatidylinositol, polychlorinated biphenyls (PCB) and weakly progesterone, potent inhibitor of phospholipase A2. NA Belongs to the secretoglobin family. NA PE1 11 +NX_P11686 Pulmonary surfactant-associated protein C 197 21053 6.19 0 Surface film Respiratory distress syndrome in premature infants;Pulmonary surfactant metabolism dysfunction 2 Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. NA NA Surfactant metabolism;Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5);Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4);Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS) PE1 8 +NX_P11712 Cytochrome P450 2C9 490 55628 8.13 0 Microsome membrane;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids and steroids (PubMed:7574697, PubMed:9866708, PubMed:9435160, PubMed:12865317, PubMed:15766564, PubMed:19965576, PubMed:21576599). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:7574697, PubMed:9866708, PubMed:9435160, PubMed:12865317, PubMed:15766564, PubMed:19965576, PubMed:21576599). Catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA) (PubMed:7574697, PubMed:15766564, PubMed:19965576, PubMed:9866708). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes cholesterol toward 25-hydroxycholesterol, a physiological regulator of cellular cholesterol homeostasis (PubMed:21576599). Exhibits low catalytic activity for the formation of catechol estrogens from 17beta-estradiol (E2) and estrone (E1), namely 2-hydroxy E1 and E2 (PubMed:12865317). Catalyzes bisallylic hydroxylation and hydroxylation with double-bond migration of polyunsaturated fatty acids (PUFA) (PubMed:9866708, PubMed:9435160). Also metabolizes plant monoterpenes such as limonene. Oxygenates (R)- and (S)-limonene to produce carveol and perillyl alcohol (PubMed:11950794). Contributes to the wide pharmacokinetics variability of the metabolism of drugs such as S-warfarin, diclofenac, phenytoin, tolbutamide and losartan (PubMed:25994031). NA Belongs to the cytochrome P450 family. Lipid metabolism; arachidonate metabolism.;Steroid metabolism; cholesterol metabolism.;Terpene metabolism; (4R)-limonene degradation.;Arachidonic acid metabolism;Linoleic acid metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;Xenobiotics;Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET);CYP2E1 reactions;Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE);Biosynthesis of maresin-like SPMs PE1 10 +NX_P11717 Cation-independent mannose-6-phosphate receptor 2491 274375 5.64 1 Golgi apparatus;Lysosome membrane;Cytoplasmic vesicle NA Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. This receptor also binds IGF2. Acts as a positive regulator of T-cell coactivation, by binding DPP4. NA Belongs to the MRL1/IGF2R family. Lysosome;Golgi Associated Vesicle Biogenesis;Retrograde transport at the Trans-Golgi-Network;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Neutrophil degranulation PE1 6 +NX_P11766 Alcohol dehydrogenase class-3 374 39724 7.45 0 Cytoplasm NA Catalyzes the oxidation of long-chain primary alcohols and the oxidation of S-(hydroxymethyl) glutathione (PubMed:8460164). Also oxidizes long chain omega-hydroxy fatty acids, such as 20-HETE, producing both the intermediate aldehyde, 20-oxoarachidonate and the end product, a dicarboxylic acid, (5Z,8Z,11Z,14Z)-eicosatetraenedioate (PubMed:16081420). Class-III ADH is remarkably ineffective in oxidizing ethanol (PubMed:8460164). NA Belongs to the zinc-containing alcohol dehydrogenase family. Class-III subfamily. Glycolysis / Gluconeogenesis;Fatty acid metabolism;Tyrosine metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;Ethanol oxidation PE1 4 +NX_P11801 Serine/threonine-protein kinase H1 424 48035 9.82 0 Golgi apparatus;Cytoplasm;Nucleus speckle;Endoplasmic reticulum membrane;Cell membrane;Nucleoplasm;Centrosome NA May be a SFC-associated serine kinase (splicing factor compartment-associated serine kinase) with a role in intranuclear SR protein (non-snRNP splicing factors containing a serine/arginine-rich domain) trafficking and pre-mRNA processing. Myristoylated. Required for membrane association. Prerequisite for palmitoylation to occur.;Autophosphorylated on serine residues.;Palmitoylated. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. NA PE1 16 +NX_P11802 Cyclin-dependent kinase 4 303 33730 6.52 0 Cytoplasm;Nucleolus;Nucleus membrane;Nucleoplasm;Cytosol;Nucleus Melanoma, cutaneous malignant 3 Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complexes and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also phosphorylates SMAD3 in a cell-cycle-dependent manner and represses its transcriptional activity. Component of the ternary complex, cyclin D/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex. Phosphorylation at Thr-172 is required for enzymatic activity. Phosphorylated, in vitro, at this site by CCNH-CDK7, but, in vivo, appears to be phosphorylated by a proline-directed kinase. In the cyclin D-CDK4-CDKN1B complex, this phosphorylation and consequent CDK4 enzyme activity, is dependent on the tyrosine phosphorylation state of CDKN1B. Thus, in proliferating cells, CDK4 within the complex is phosphorylated on Thr-172 in the T-loop. In resting cells, phosphorylation on Thr-172 is prevented by the non-tyrosine-phosphorylated form of CDKN1B. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. Cell cycle;p53 signaling pathway;Tight junction;T cell receptor signaling pathway;Measles;HTLV-I infection;Pathways in cancer;Pancreatic cancer;Glioma;Melanoma;Bladder cancer;Chronic myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;RMTs methylate histone arginines;Oxidative Stress Induced Senescence;Senescence-Associated Secretory Phenotype (SASP);Meiotic recombination;SCF(Skp2)-mediated degradation of p27/p21;Oncogene Induced Senescence;Transcriptional regulation of white adipocyte differentiation;Cyclin D associated events in G1;PTK6 Regulates Cell Cycle;Transcriptional regulation by RUNX2;Ubiquitin-dependent degradation of Cyclin D;Transcriptional regulation of granulopoiesis;Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4;Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6;Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4;Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 PE1 12 +NX_P11831 Serum response factor 508 51593 7.83 0 Nucleoplasm;Nucleus NA SRF is a transcription factor that binds to the serum response element (SRE), a short sequence of dyad symmetry located 300 bp to the 5' of the site of transcription initiation of some genes (such as FOS). Together with MRTFA transcription coactivator, controls expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration. The SRF-MRTFA complex activity responds to Rho GTPase-induced changes in cellular globular actin (G-actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics. Required for cardiac differentiation and maturation. Phosphorylated by PRKDC. NA MAPK signaling pathway;HTLV-I infection;RHO GTPases Activate Formins;Estrogen-dependent nuclear events downstream of ESR-membrane signaling PE1 6 +NX_P11836 B-lymphocyte antigen CD20 297 33077 5.04 4 Cell membrane Immunodeficiency, common variable, 5 B-lymphocyte-specific membrane protein that plays a role in the regulation of cellular calcium influx necessary for the development, differentiation, and activation of B-lymphocytes (PubMed:3925015, PubMed:7684739, PubMed:12920111). Functions as a store-operated calcium (SOC) channel component promoting calcium influx after activation by the B-cell receptor/BCR (PubMed:7684739, PubMed:12920111, PubMed:18474602). Phosphorylated on serines and threonines in resting B-cells. Protein kinase C/PKC can use CD20 as substrate. Belongs to the MS4A family. Hematopoietic cell lineage PE1 11 +NX_P11844 Gamma-crystallin A 174 20877 8.05 0 NA NA Crystallins are the dominant structural components of the vertebrate eye lens. NA Belongs to the beta/gamma-crystallin family. NA PE1 2 +NX_P11908 Ribose-phosphate pyrophosphokinase 2 318 34769 6.15 0 NA NA Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis. NA Belongs to the ribose-phosphate pyrophosphokinase family. Metabolic intermediate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate from D-ribose 5-phosphate (route I): step 1/1.;Pentose phosphate pathway;Purine metabolism;Metabolic pathways;5-Phosphoribose 1-diphosphate biosynthesis PE1 X +NX_P11912 B-cell antigen receptor complex-associated protein alpha chain 226 25038 4.87 1 Cell membrane Agammaglobulinemia 3, autosomal recessive Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of antigen to the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Also required for BCR surface expression and for efficient differentiation of pro- and pre-B-cells. Stimulates SYK autophosphorylation and activation. Binds to BLNK, bringing BLNK into proximity with SYK and allowing SYK to phosphorylate BLNK. Also interacts with and increases activity of some Src-family tyrosine kinases. Represses BCR signaling during development of immature B-cells. Arginine methylation in the ITAM domain may interfere with the binding of SYK. It promotes signals leading to B-cell differentiation (By similarity).;Phosphorylated on tyrosine, serine and threonine residues upon B-cell activation. Phosphorylation of tyrosine residues by Src-family kinases is an early and essential feature of the BCR signaling cascade. The phosphorylated tyrosines serve as docking sites for SH2-domain containing kinases, leading to their activation which in turn leads to phosphorylation of downstream targets. Phosphorylated by LYN. Phosphorylation of serine and threonine residues may prevent subsequent tyrosine phosphorylation.;CD79A is phosphorylated by LYN (Phosphotyrosine:PTM-0255) NA B cell receptor signaling pathway;Primary immunodeficiency;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;CD22 mediated BCR regulation PE1 19 +NX_P11926 Ornithine decarboxylase 461 51148 5.1 0 Cytosol;Cell membrane NA Catalyzes the first and rate-limiting step of polyamine biosynthesis that converts ornithine into putrescine, which is the precursor for the polyamines, spermidine and spermine. Polyamines are essential for cell proliferation and are implicated in cellular processes, ranging from DNA replication to apoptosis. S-Nitrosylation inhibits the enzyme. S-Nitrosylated in vitro on 4 cysteine residues. Belongs to the Orn/Lys/Arg decarboxylase class-II family. Amine and polyamine biosynthesis; putrescine biosynthesis via L-ornithine pathway; putrescine from L-ornithine: step 1/1.;Arginine and proline metabolism;Glutathione metabolism;Metabolic pathways;Regulation of ornithine decarboxylase (ODC);Metabolism of polyamines PE1 2 +NX_P11940 Polyadenylate-binding protein 1 636 70671 9.52 0 Cytoplasm;Nucleus NA (Microbial infection) Positively regulates the replication of dengue virus (DENV).;Binds the poly(A) tail of mRNA, including that of its own transcript, and regulates processes of mRNA metabolism such as pre-mRNA splicing and mRNA stability (PubMed:11051545, PubMed:17212783, PubMed:25480299). Its function in translational initiation regulation can either be enhanced by PAIP1 or repressed by PAIP2 (PubMed:11051545, PubMed:20573744). Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo. Involved in translationally coupled mRNA turnover (PubMed:11051545). Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain (PubMed:11051545). Involved in regulation of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons; for the recognition of premature termination codons (PTC) and initiation of NMD a competitive interaction between UPF1 and PABPC1 with the ribosome-bound release factors is proposed (PubMed:18447585). By binding to long poly(A) tails, may protect them from uridylation by ZCCHC6/ZCCHC11 and hence contribute to mRNA stability (PubMed:25480299). Phosphorylated by MAPKAPK2.;Methylated by CARM1. Arg-493 is dimethylated, probably to asymmetric dimethylarginine.;PABPC1 is phosphorylated by MAPKAPK2 Belongs to the polyadenylate-binding protein type-1 family. RNA transport;mRNA surveillance pathway;RNA degradation;AUF1 (hnRNP D0) binds and destabilizes mRNA;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Deadenylation of mRNA;Regulation of expression of SLITs and ROBOs PE1 8 +NX_P12004 Proliferating cell nuclear antigen 261 28769 4.57 0 Nucleoplasm;Nucleus Ataxia-telangiectasia-like disorder 2 Auxiliary protein of DNA polymerase delta and is involved in the control of eukaryotic DNA replication by increasing the polymerase's processibility during elongation of the leading strand. Induces a robust stimulatory effect on the 3'-5' exonuclease and 3'-phosphodiesterase, but not apurinic-apyrimidinic (AP) endonuclease, APEX2 activities. Has to be loaded onto DNA in order to be able to stimulate APEX2. Plays a key role in DNA damage response (DDR) by being conveniently positioned at the replication fork to coordinate DNA replication with DNA repair and DNA damage tolerance pathways (PubMed:24939902). Acts as a loading platform to recruit DDR proteins that allow completion of DNA replication after DNA damage and promote postreplication repair: Monoubiquitinated PCNA leads to recruitment of translesion (TLS) polymerases, while 'Lys-63'-linked polyubiquitination of PCNA is involved in error-free pathway and employs recombination mechanisms to synthesize across the lesion (PubMed:24695737). Phosphorylated. Phosphorylation at Tyr-211 by EGFR stabilizes chromatin-associated PCNA.;Methylated on glutamate residues by ARMT1/C6orf211.;Acetylated by CREBBP and p300/EP300; preferentially acetylated by CREBBP on Lys-80, Lys-13 and Lys-14 and on Lys-77 by p300/EP300 upon loading on chromatin in response to UV irradiation (PubMed:24939902, PubMed:19419956). Lysine acetylation disrupts association with chromatin, hence promoting PCNA ubiquitination and proteasomal degradation in response to UV damage in a CREBBP- and EP300-dependent manner (PubMed:24939902). Acetylation disrupts interaction with NUDT15 and promotes degradation (PubMed:19419956).;Ubiquitinated (PubMed:24939902, PubMed:20227374). Following DNA damage, can be either monoubiquitinated to stimulate direct bypass of DNA lesions by specialized DNA polymerases or polyubiquitinated to promote recombination-dependent DNA synthesis across DNA lesions by template switching mechanisms. Following induction of replication stress, monoubiquitinated by the UBE2B-RAD18 complex on Lys-164, leading to recruit translesion (TLS) polymerases, which are able to synthesize across DNA lesions in a potentially error-prone manner. An error-free pathway also exists and requires non-canonical polyubiquitination on Lys-164 through 'Lys-63' linkage of ubiquitin moieties by the E2 complex UBE2N-UBE2V2 and the E3 ligases, HLTF, RNF8 and SHPRH. This error-free pathway, also known as template switching, employs recombination mechanisms to synthesize across the lesion, using as a template the undamaged, newly synthesized strand of the sister chromatid. Monoubiquitination at Lys-164 also takes place in undamaged proliferating cells, and is mediated by the DCX(DTL) complex, leading to enhance PCNA-dependent translesion DNA synthesis. Sumoylated during S phase. Belongs to the PCNA family. DNA replication;Base excision repair;Nucleotide excision repair;Mismatch repair;Cell cycle;HTLV-I infection;Translesion Synthesis by POLH;Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha);G1/S-Specific Transcription;Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta);Translesion synthesis by POLI;Termination of translesion DNA synthesis;Translesion synthesis by REV1;Translesion synthesis by POLK;PCNA-Dependent Long Patch Base Excision Repair;Recognition of DNA damage by PCNA-containing replication complex;Polymerase switching on the C-strand of the telomere;Processive synthesis on the C-strand of the telomere;Telomere C-strand (Lagging Strand) Synthesis;Removal of the Flap Intermediate from the C-strand;Polymerase switching;Removal of the Flap Intermediate;Processive synthesis on the lagging strand;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Homologous Recombination (HRR);Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER;SUMOylation of DNA replication proteins;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;E3 ubiquitin ligases ubiquitinate target proteins;Transcription of E2F targets under negative control by DREAM complex PE1 20 +NX_P12018 Immunoglobulin iota chain 145 16605 6.3 0 NA NA Associates with the Ig-mu chain to form a molecular complex that is expressed on the surface of pre-B-cells. This complex presumably regulates Ig gene rearrangements in the early steps of B-cell differentiation. NA Belongs to the immunoglobulin superfamily. Cell surface interactions at the vascular wall PE1 22 +NX_P12034 Fibroblast growth factor 5 268 29551 10.54 0 Nucleoplasm;Cytosol;Secreted;Nucleolus Trichomegaly Plays an important role in the regulation of cell proliferation and cell differentiation. Required for normal regulation of the hair growth cycle. Functions as an inhibitor of hair elongation by promoting progression from anagen, the growth phase of the hair follicle, into catagen the apoptosis-induced regression phase (By similarity). NA Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;Signaling by activated point mutants of FGFR1;Signaling by activated point mutants of FGFR3;FGFR3c ligand binding and activation;FGFR1c ligand binding and activation;FGFR2c ligand binding and activation;FGFR3 mutant receptor activation;Activated point mutants of FGFR2;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade: FGFR1;Phospholipase C-mediated cascade, FGFR2;Phospholipase C-mediated cascade, FGFR3;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;SHC-mediated cascade:FGFR3;FRS-mediated FGFR3 signaling;PI-3K cascade:FGFR3;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Downstream signaling of activated FGFR1;FGFRL1 modulation of FGFR1 signaling;Signaling by FGFR3 point mutants in cancer PE1 4 +NX_P12035 Keratin, type II cytoskeletal 3 628 64417 6.12 0 NA Corneal dystrophy, Meesmann NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_P12036 Neurofilament heavy polypeptide 1026 112479 5.99 0 Cytoplasm Amyotrophic lateral sclerosis;Charcot-Marie-Tooth disease 2CC Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins. Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.;Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincidentally with a change in the neurofilament function.;There are a number of repeats of the tripeptide K-S-P, NFH is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFH results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber.;NEFH is phosphorylated by MAPK14 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);NEFH is phosphorylated by PKN1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the intermediate filament family. Amyotrophic lateral sclerosis (ALS) PE1 22 +NX_P12074 Cytochrome c oxidase subunit 6A1, mitochondrial 109 12155 9.3 0 Mitochondrion inner membrane;Mitochondrion Charcot-Marie-Tooth disease, recessive, intermediate type, D This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. NA Belongs to the cytochrome c oxidase subunit 6A family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 12 +NX_P12081 Histidine--tRNA ligase, cytoplasmic 509 57411 5.72 0 Cytoplasm;Cytosol Charcot-Marie-Tooth disease 2W;Usher syndrome 3B Cytoplasmic histidine--tRNA ligase (Probable). Plays a role in axon guidance. NA Belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Cytosolic tRNA aminoacylation PE1 5 +NX_P12104 Fatty acid-binding protein, intestinal 132 15207 6.62 0 Cytoplasm;Cytosol;Cytoskeleton;Cell membrane NA FABP are thought to play a role in the intracellular transport of long-chain fatty acids and their acyl-CoA esters. FABP2 is probably involved in triglyceride-rich lipoprotein synthesis. Binds saturated long-chain fatty acids with a high affinity, but binds with a lower affinity to unsaturated long-chain fatty acids. FABP2 may also help maintain energy homeostasis by functioning as a lipid sensor. NA Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. PPAR signaling pathway;Fat digestion and absorption;Triglyceride catabolism PE1 4 +NX_P12107 Collagen alpha-1(XI) chain 1806 181065 5.06 0 Endoplasmic reticulum;Extracellular matrix Stickler syndrome 2;Fibrochondrogenesis 1;Marshall syndrome May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. N-glycosylated.;Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Belongs to the fibrillar collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Amoebiasis;Collagen degradation;Collagen biosynthesis and modifying enzymes;Assembly of collagen fibrils and other multimeric structures;Non-integrin membrane-ECM interactions;MET activates PTK2 signaling;Collagen chain trimerization PE1 1 +NX_P12109 Collagen alpha-1(VI) chain 1028 108529 5.26 0 Cytosol;Extracellular matrix Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1 Collagen VI acts as a cell-binding protein. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Belongs to the type VI collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Collagen chain trimerization PE1 21 +NX_P12110 Collagen alpha-2(VI) chain 1019 108579 5.85 0 Membrane;Cytosol;Extracellular matrix;Cell membrane Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Myosclerosis autosomal recessive Collagen VI acts as a cell-binding protein. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Belongs to the type VI collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Collagen chain trimerization PE1 21 +NX_P12111 Collagen alpha-3(VI) chain 3177 343669 6.26 0 Extracellular matrix Bethlem myopathy 1;Dystonia 27;Ullrich congenital muscular dystrophy 1 Collagen VI acts as a cell-binding protein. The N-terminus is blocked.;Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Belongs to the type VI collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Collagen chain trimerization PE1 2 +NX_P12235 ADP/ATP translocase 1 298 33064 9.78 6 Mitochondrion inner membrane Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2;Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type Involved in mitochondrial ADP/ATP transport. Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Calcium signaling pathway;Parkinson's disease;Huntington's disease;HTLV-I infection;Mitochondrial protein import;Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane;Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization PE1 4 +NX_P12236 ADP/ATP translocase 3 298 32866 9.76 6 Mitochondrion inner membrane NA Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. May participate in the formation of the permeability transition pore complex (PTPC) responsible for the release of mitochondrial products that triggers apoptosis. Trimethylated by ANTKMT at Lys-52. Belongs to the mitochondrial carrier (TC 2.A.29) family. Calcium signaling pathway;Parkinson's disease;Huntington's disease;Influenza A;HTLV-I infection;Mitochondrial protein import;Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane;Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization;Influenza Virus Induced Apoptosis PE1 X +NX_P12259 Coagulation factor V 2224 251703 5.68 0 Golgi apparatus;Secreted Ischemic stroke;Budd-Chiari syndrome;Pregnancy loss, recurrent, 1;Thrombophilia due to activated protein C resistance;Factor V deficiency Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin. Sulfation is required for efficient thrombin cleavage and activation and for full procoagulant activity.;Phosphorylated by FAM20C in the extracellular medium.;Thrombin activates factor V proteolytically to the active cofactor, factor Va (formation of a heavy chain at the N-terminus and a light chain at the C-terminus).;Activated protein C inactivates factor V and factor Va by proteolytic degradation. Belongs to the multicopper oxidase family. Complement and coagulation cascades;Common Pathway of Fibrin Clot Formation;Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);COPII-mediated vesicle transport;Cargo concentration in the ER;Post-translational protein phosphorylation PE1 1 +NX_P12268 Inosine-5'-monophosphate dehydrogenase 2 514 55805 6.44 0 Cytoplasm;Cytosol;Nucleus NA Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors. The N-terminus is blocked.;Acetylated by CLOCK in a circadian manner (PubMed:28985504). Belongs to the IMPDH/GMPR family. Purine metabolism; XMP biosynthesis via de novo pathway; XMP from IMP: step 1/1.;Purine metabolism;Drug metabolism - other enzymes;Metabolic pathways;Purine ribonucleoside monophosphate biosynthesis;Neutrophil degranulation PE1 3 +NX_P12270 Nucleoprotein TPR 2363 267293 4.97 0 Cytoplasm;Nuclear pore complex;Nucleus membrane;Nucleus envelope;Nucleus;Spindle;Kinetochore NA Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs, plays a role in the establishment of nuclear-peripheral chromatin compartmentalization in interphase, and in the mitotic spindle checkpoint signaling during mitosis. Involved in the quality control and retention of unspliced mRNAs in the nucleus; in association with NUP153, regulates the nuclear export of unspliced mRNA species bearing constitutive transport element (CTE) in a NXF1- and KHDRBS1-independent manner. Negatively regulates both the association of CTE-containing mRNA with large polyribosomes and translation initiation. Does not play any role in Rev response element (RRE)-mediated export of unspliced mRNAs. Implicated in nuclear export of mRNAs transcribed from heat shock gene promoters; associates both with chromatin in the HSP70 promoter and with mRNAs transcribed from this promoter under stress-induced conditions. Modulates the nucleocytoplasmic transport of activated MAPK1/ERK2 and huntingtin/HTT and may serve as a docking site for the XPO1/CRM1-mediated nuclear export complex. According to some authors, plays a limited role in the regulation of nuclear protein export (PubMed:22253824 and PubMed:11952838). Plays also a role as a structural and functional element of the perinuclear chromatin distribution; involved in the formation and/or maintenance of NPC-associated perinuclear heterochromatin exclusion zones (HEZs). Finally, acts as a spatial regulator of the spindle-assembly checkpoint (SAC) response ensuring a timely and effective recruitment of spindle checkpoint proteins like MAD1L1 and MAD2L1 to unattached kinetochore during the metaphase-anaphase transition before chromosome congression. Its N-terminus is involved in activation of oncogenic kinases. Phosphorylated. Phosphorylation occurs on serine and threonine residues (comprised in the C-terminal region) by MAPK1/ERK2 and stabilizes the interaction between these two proteins.;Proteolytically degraded after poliovirus (PV) infection; degradation is restricted to its unfolded C-terminal tail domain whereas its coiled-coil domain containing NCP- and NUP153-binding domains withstand degradation. Belongs to the TPR family. RNA transport;Pathways in cancer;Thyroid cancer;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 1 +NX_P12271 Retinaldehyde-binding protein 1 317 36474 4.98 0 Nucleoplasm;Cytosol;Cytoplasm;Centrosome Bothnia retinal dystrophy;Rod-cone dystrophy Newfoundland;Retinitis punctata albescens Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'. NA NA The canonical retinoid cycle in rods (twilight vision);The retinoid cycle in cones (daylight vision);Retinoid cycle disease events PE1 15 +NX_P12272 Parathyroid hormone-related protein 177 20194 10.19 0 Cytoplasm;Golgi apparatus;Secreted;Nucleoplasm;Cytosol;Nucleus Brachydactyly E2 Osteostatin is a potent inhibitor of osteoclastic bone resorption.;Neuroendocrine peptide which is a critical regulator of cellular and organ growth, development, migration, differentiation and survival and of epithelial calcium ion transport. Regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. Required for skeletal homeostasis. Promotes mammary mesenchyme differentiation and bud outgrowth by modulating mesenchymal cell responsiveness to BMPs. Upregulates BMPR1A expression in the mammary mesenchyme and this increases the sensitivity of these cells to BMPs and allows them to respond to BMP4 in a paracrine and/or autocrine fashion. BMP4 signaling in the mesenchyme, in turn, triggers epithelial outgrowth and augments MSX2 expression, which causes the mammary mesenchyme to inhibit hair follicle formation within the nipple sheath (By similarity). Promotes colon cancer cell migration and invasion in an integrin alpha-6/beta-1-dependent manner through activation of Rac1. There are 3 principal secretory forms, called PTHrP[1-36], PTHrP[38-94], and osteostatin (PTHrP[107-139]) arising from endoproteolytic cleavage of the initial translation product. Each of these secretory forms is believed to have one or more of its own receptors that mediates the normal paracrine, autocrine and endocrine actions. Belongs to the parathyroid hormone family. G alpha (s) signalling events;Class B/2 (Secretin family receptors) PE1 12 +NX_P12273 Prolactin-inducible protein 146 16572 8.26 0 Secreted NA NA NA Belongs to the PIP family. Miscellaneous transport and binding events PE1 7 +NX_P12277 Creatine kinase B-type 381 42644 5.34 0 Cytoplasm;Cytosol NA Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. Creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa. NA Belongs to the ATP:guanido phosphotransferase family. Arginine and proline metabolism;Metabolic pathways;Creatine metabolism PE1 14 +NX_P12314 High affinity immunoglobulin gamma Fc receptor I 374 42632 8.09 1 Cell membrane NA High affinity receptor for the Fc region of immunoglobulins gamma. Functions in both innate and adaptive immune responses. Phosphorylated on serine residues. Belongs to the immunoglobulin superfamily. FCGR1 family. Phagosome;Osteoclast differentiation;Hematopoietic cell lineage;Fc gamma R-mediated phagocytosis;Leishmaniasis;Staphylococcus aureus infection;Tuberculosis;Systemic lupus erythematosus;Cross-presentation of soluble exogenous antigens (endosomes);Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Interferon gamma signaling;Role of phospholipids in phagocytosis;FCGR activation PE1 1 +NX_P12318 Low affinity immunoglobulin gamma Fc region receptor II-a 317 35001 6.19 1 Cell membrane NA Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens. Promotes phagocytosis of opsonized antigens. Phosphorylated by SRC-type Tyr-kinases such as LYN, BLK, FYN, HCK and SYK. NA Phagosome;Osteoclast differentiation;Fc gamma R-mediated phagocytosis;Leishmaniasis;Staphylococcus aureus infection;Tuberculosis;Systemic lupus erythematosus;Regulation of actin dynamics for phagocytic cup formation;Role of phospholipids in phagocytosis;FCGR activation;Neutrophil degranulation PE1 1 +NX_P12319 High affinity immunoglobulin epsilon receptor subunit alpha 257 29596 6.23 1 Cell membrane NA Binds to the Fc region of immunoglobulins epsilon. High affinity receptor. Responsible for initiating the allergic response. Binding of allergen to receptor-bound IgE leads to cell activation and the release of mediators (such as histamine) responsible for the manifestations of allergy. The same receptor also induces the secretion of important lymphokines. NA NA Fc epsilon RI signaling pathway;Asthma;FCERI mediated NF-kB activation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Fc epsilon receptor (FCERI) signaling PE1 1 +NX_P12429 Annexin A3 323 36375 5.63 0 Cytosol NA Inhibitor of phospholipase A2, also possesses anti-coagulant properties. Also cleaves the cyclic bond of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. NA Belongs to the annexin family. NA PE1 4 +NX_P12524 Protein L-Myc 364 40327 5.47 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 1 +NX_P12525 Putative myc-like protein MYCLP1 358 40868 5.14 0 Nucleus NA NA NA NA NA PE5 X +NX_P12532 Creatine kinase U-type, mitochondrial 417 47037 8.6 0 Mitochondrion inner membrane NA Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. Creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa. NA Belongs to the ATP:guanido phosphotransferase family. Arginine and proline metabolism;Metabolic pathways;Arginine and proline metabolism;Metabolic pathways;Creatine metabolism PE1 15 +NX_P12544 Granzyme A 262 28999 9.14 0 Cytoplasmic granule;Secreted NA Abundant protease in the cytosolic granules of cytotoxic T-cells and NK-cells which activates caspase-independent cell death with morphological features of apoptosis when delivered into the target cell through the immunological synapse. It cleaves after Lys or Arg. Cleaves APEX1 after 'Lys-31' and destroys its oxidative repair activity. Cleaves the nucleosome assembly protein SET after 'Lys-189', which disrupts its nucleosome assembly activity and allows the SET complex to translocate into the nucleus to nick and degrade the DNA. NA Belongs to the peptidase S1 family. Granzyme subfamily. Neuroactive ligand-receptor interaction PE1 5 +NX_P12643 Bone morphogenetic protein 2 396 44702 9.15 0 Cytoplasmic vesicle;Secreted Brachydactyly A2;Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Induces cartilage and bone formation (PubMed:3201241). Stimulates the differentiation of myoblasts into osteoblasts via the EIF2AK3-EIF2A- ATF4 pathway. BMP2 activation of EIF2AK3 stimulates phosphorylation of EIF2A which leads to increased expression of ATF4 which plays a central role in osteoblast differentiation. In addition stimulates TMEM119, which upregulates the expression of ATF4 (PubMed:24362451). NA Belongs to the TGF-beta family. Cytokine-cytokine receptor interaction;Hedgehog signaling pathway;TGF-beta signaling pathway;Pathways in cancer;Basal cell carcinoma;Signaling by BMP;Molecules associated with elastic fibres;Regulation of RUNX2 expression and activity;Transcriptional regulation by RUNX2 PE1 20 +NX_P12644 Bone morphogenetic protein 4 408 46555 8.97 0 Extracellular matrix Microphthalmia, syndromic, 6;Non-syndromic orofacial cleft 11 Induces cartilage and bone formation. Also acts in mesoderm induction, tooth development, limb formation and fracture repair. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity). NA Belongs to the TGF-beta family. Hedgehog signaling pathway;TGF-beta signaling pathway;Pathways in cancer;Basal cell carcinoma;Molecules associated with elastic fibres;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 14 +NX_P12645 Bone morphogenetic protein 3 472 53372 9.64 0 Secreted NA Negatively regulates bone density. Antagonizes the ability of certain osteogenic BMPs to induce osteoprogenitor differentitation and ossification. NA Belongs to the TGF-beta family. NA PE1 4 +NX_P12694 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial 445 50471 8.42 0 Mitochondrion matrix Maple syrup urine disease 1A The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). NA Belongs to the BCKDHA family. Valine, leucine and isoleucine degradation;Metabolic pathways;Branched-chain amino acid catabolism;Glyoxylate metabolism and glycine degradation PE1 19 +NX_P12724 Eosinophil cationic protein 160 18385 10.12 0 Secreted NA Cytotoxin and helminthotoxin with low-efficiency ribonuclease activity. Possesses a wide variety of biological activities. Exhibits antibacterial activity, including cytoplasmic membrane depolarization of preferentially Gram-negative, but also Gram-positive strains. Promotes E.coli outer membrane detachment, alteration of the overall cell shape and partial loss of cell content. NA Belongs to the pancreatic ribonuclease family. Asthma;Neutrophil degranulation;Antimicrobial peptides PE1 14 +NX_P12755 Ski oncogene 728 80005 7.73 0 Nucleoplasm;Nucleus Shprintzen-Goldberg craniosynostosis syndrome May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling. Ubiquitinated by RNF165, promoting proteasomal degradation, leading to enhance the BMP-Smad signaling.;SKI is phosphorylated by AURKA (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the SKI family. Downregulation of SMAD2/3:SMAD4 transcriptional activity;Signaling by BMP PE1 1 +NX_P12757 Ski-like protein 684 76976 6.72 0 Nucleoplasm;Cytosol NA May have regulatory role in cell division or differentiation in response to extracellular signals. Ubiquitinated by RNF111 and RNF165, promoting proteasomal degradation, leading to enhance the BMP-Smad signaling. Belongs to the SKI family. Downregulation of SMAD2/3:SMAD4 transcriptional activity PE1 3 +NX_P12814 Alpha-actinin-1 892 103058 5.25 0 Cytoplasm;Cell membrane;Cell junction;Ruffle;Z line;Cytoskeleton Bleeding disorder, platelet-type 15 F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. NA Belongs to the alpha-actinin family. Focal adhesion;Adherens junction;Tight junction;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Amoebiasis;Systemic lupus erythematosus;Arrhythmogenic right ventricular cardiomyopathy (ARVC);Syndecan interactions;Platelet degranulation;Nephrin family interactions;Regulation of cytoskeletal remodeling and cell spreading by IPP complex components PE1 14 +NX_P12821 Angiotensin-converting enzyme 1306 149715 5.95 1 Cell membrane;Cytoplasm;Secreted;Cytoplasmic vesicle Intracerebral hemorrhage;Microvascular complications of diabetes 3;Renal tubular dysgenesis;Ischemic stroke Converts angiotensin I to angiotensin II by release of the terminal His-Leu, this results in an increase of the vasoconstrictor activity of angiotensin. Also able to inactivate bradykinin, a potent vasodilator. Has also a glycosidase activity which releases GPI-anchored proteins from the membrane by cleaving the mannose linkage in the GPI moiety. Phosphorylated by CK2 on Ser-1299; which allows membrane retention. Belongs to the peptidase M2 family. Renin-angiotensin system;Chagas disease (American trypanosomiasis);Hypertrophic cardiomyopathy (HCM);Metabolism of Angiotensinogen to Angiotensins PE1 17 +NX_P12829 Myosin light chain 4 197 21565 4.98 0 Cell membrane Atrial fibrillation, familial, 18 Regulatory light chain of myosin. Does not bind calcium. NA NA Striated Muscle Contraction PE1 17 +NX_P12830 Cadherin-1 882 97456 4.58 1 trans-Golgi network;Golgi apparatus;Cell membrane;Adherens junction;Cell junction;Endosome Blepharocheilodontic syndrome 1;Endometrial cancer;Ovarian cancer;Hereditary diffuse gastric cancer;Breast cancer, lobular E-Cad/CTF2 promotes non-amyloidogenic degradation of Abeta precursors. Has a strong inhibitory effect on APP C99 and C83 production.;Cadherins are calcium-dependent cell adhesion proteins (PubMed:11976333). They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells (PubMed:11976333). Has a potent invasive suppressor role. It is a ligand for integrin alpha-E/beta-7.;(Microbial infection) Serves as a receptor for Listeria monocytogenes; internalin A (InlA) binds to this protein and promotes uptake of the bacteria. Ubiquitinated by a SCF complex containing SKP2, which requires prior phosphorylation by CK1/CSNK1A1. Ubiquitinated by CBLL1/HAKAI, requires prior phosphorylation at Tyr-754.;O-glycosylated. O-manosylated by TMTC1, TMTC2, TMTC3 or TMTC4. Thr-285 and Thr-509 are O-mannosylated by TMTC2 or TMTC4 but not TMTC1 or TMTC3.;N-glycosylation at Asn-637 is essential for expression, folding and trafficking. Addition of bisecting N-acetylglucosamine by MGAT3 modulates its cell membrane location (PubMed:19403558).;During apoptosis or with calcium influx, cleaved by a membrane-bound metalloproteinase (ADAM10), PS1/gamma-secretase and caspase-3 (PubMed:11076937, PubMed:11953314, PubMed:10597309). Processing by the metalloproteinase, induced by calcium influx, causes disruption of cell-cell adhesion and the subsequent release of beta-catenin into the cytoplasm (PubMed:10597309). The residual membrane-tethered cleavage product is rapidly degraded via an intracellular proteolytic pathway (PubMed:10597309). Cleavage by caspase-3 releases the cytoplasmic tail resulting in disintegration of the actin microfilament system (PubMed:11076937). The gamma-secretase-mediated cleavage promotes disassembly of adherens junctions (PubMed:11953314). During development of the cochlear organ of Corti, cleavage by ADAM10 at adherens junctions promotes pillar cell separation (By similarity).;CDH1 is phosphorylated by PRKD1 NA Cell adhesion molecules (CAMs);Adherens junction;Bacterial invasion of epithelial cells;Pathogenic Escherichia coli infection;Pathways in cancer;Endometrial cancer;Thyroid cancer;Melanoma;Bladder cancer;Degradation of the extracellular matrix;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Integrin cell surface interactions;Apoptotic cleavage of cell adhesion proteins;Adherens junctions interactions;RHO GTPases activate IQGAPs;InlA-mediated entry of Listeria monocytogenes into host cells PE1 16 +NX_P12838 Neutrophil defensin 4 97 10504 8.3 0 Secreted NA Has antimicrobial activity against Gram-negative bacteria, and to a lesser extent also against Gram-positive bacteria and fungi. Protects blood cells against infection with HIV-1 (in vitro). Inhibits corticotropin (ACTH)-stimulated corticosterone production. NA Belongs to the alpha-defensin family. Alpha-defensins;Defensins;Neutrophil degranulation PE1 8 +NX_P12872 Promotilin 115 12920 6.14 0 Secreted NA Plays an important role in the regulation of interdigestive gastrointestinal motility and indirectly causes rhythmic contraction of duodenal and colonic smooth muscle. NA Belongs to the motilin family. Peptide ligand-binding receptors;G alpha (q) signalling events PE1 6 +NX_P12882 Myosin-1 1939 223145 5.59 0 Myofibril NA Muscle contraction. MYH1 is phosphorylated by ALPK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Tight junction;Viral myocarditis PE1 17 +NX_P12883 Myosin-7 1935 223097 5.63 0 Myofibril;Sarcomere Myopathy, distal, 1;Cardiomyopathy, familial hypertrophic 1;Scapuloperoneal myopathy MYH7-related;Left ventricular non-compaction 5;Myopathy, myosin storage, autosomal dominant;Myopathy, myosin storage, autosomal recessive;Cardiomyopathy, dilated 1S Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac muscle. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Cardiac muscle contraction;Tight junction;Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;Viral myocarditis PE1 14 +NX_P12931 Proto-oncogene tyrosine-protein kinase Src 536 59835 7.1 0 Cell membrane;Cell junction;Cytosol;Mitochondrion inner membrane;Perinuclear region;Nucleus;Cytoskeleton Thrombocytopenia 6 Non-receptor protein tyrosine kinase which is activated following engagement of many different classes of cellular receptors including immune response receptors, integrins and other adhesion receptors, receptor protein tyrosine kinases, G protein-coupled receptors as well as cytokine receptors. Participates in signaling pathways that control a diverse spectrum of biological activities including gene transcription, immune response, cell adhesion, cell cycle progression, apoptosis, migration, and transformation. Due to functional redundancy between members of the SRC kinase family, identification of the specific role of each SRC kinase is very difficult. SRC appears to be one of the primary kinases activated following engagement of receptors and plays a role in the activation of other protein tyrosine kinase (PTK) families. Receptor clustering or dimerization leads to recruitment of SRC to the receptor complexes where it phosphorylates the tyrosine residues within the receptor cytoplasmic domains. Plays an important role in the regulation of cytoskeletal organization through phosphorylation of specific substrates such as AFAP1. Phosphorylation of AFAP1 allows the SRC SH2 domain to bind AFAP1 and to localize to actin filaments. Cytoskeletal reorganization is also controlled through the phosphorylation of cortactin (CTTN) (Probable). When cells adhere via focal adhesions to the extracellular matrix, signals are transmitted by integrins into the cell resulting in tyrosine phosphorylation of a number of focal adhesion proteins, including PTK2/FAK1 and paxillin (PXN) (PubMed:21411625). In addition to phosphorylating focal adhesion proteins, SRC is also active at the sites of cell-cell contact adherens junctions and phosphorylates substrates such as beta-catenin (CTNNB1), delta-catenin (CTNND1), and plakoglobin (JUP). Another type of cell-cell junction, the gap junction, is also a target for SRC, which phosphorylates connexin-43 (GJA1). SRC is implicated in regulation of pre-mRNA-processing and phosphorylates RNA-binding proteins such as KHDRBS1 (Probable). Also plays a role in PDGF-mediated tyrosine phosphorylation of both STAT1 and STAT3, leading to increased DNA binding activity of these transcription factors (By similarity). Involved in the RAS pathway through phosphorylation of RASA1 and RASGRF1 (PubMed:11389730). Plays a role in EGF-mediated calcium-activated chloride channel activation (PubMed:18586953). Required for epidermal growth factor receptor (EGFR) internalization through phosphorylation of clathrin heavy chain (CLTC and CLTCL1) at 'Tyr-1477'. Involved in beta-arrestin (ARRB1 and ARRB2) desensitization through phosphorylation and activation of GRK2, leading to beta-arrestin phosphorylation and internalization. Has a critical role in the stimulation of the CDK20/MAPK3 mitogen-activated protein kinase cascade by epidermal growth factor (Probable). Might be involved not only in mediating the transduction of mitogenic signals at the level of the plasma membrane but also in controlling progression through the cell cycle via interaction with regulatory proteins in the nucleus (PubMed:7853507). Plays an important role in osteoclastic bone resorption in conjunction with PTK2B/PYK2. Both the formation of a SRC-PTK2B/PYK2 complex and SRC kinase activity are necessary for this function. Recruited to activated integrins by PTK2B/PYK2, thereby phosphorylating CBL, which in turn induces the activation and recruitment of phosphatidylinositol 3-kinase to the cell membrane in a signaling pathway that is critical for osteoclast function (PubMed:8755529, PubMed:14585963). Promotes energy production in osteoclasts by activating mitochondrial cytochrome C oxidase (PubMed:12615910). Phosphorylates DDR2 on tyrosine residues, thereby promoting its subsequent autophosphorylation (PubMed:16186108). Phosphorylates RUNX3 and COX2 on tyrosine residues, TNK2 on 'Tyr-284' and CBL on 'Tyr-731' (PubMed:20100835, PubMed:21309750). Enhances DDX58/RIG-I-elicited antiviral signaling (PubMed:19419966). Phosphorylates PDPK1 at 'Tyr-9', 'Tyr-373' and 'Tyr-376' (PubMed:14585963). Phosphorylates BCAR1 at 'Tyr-128' (PubMed:22710723). Phosphorylates CBLC at multiple tyrosine residues, phosphorylation at 'Tyr-341' activates CBLC E3 activity (PubMed:20525694). Involved in anchorage-independent cell growth (PubMed:19307596). Required for podosome formation (By similarity). Myristoylated at Gly-2, and this is essential for targeting to membranes.;Ubiquitinated in response to CDK5-mediated phosphorylation. Ubiquitination mediated by CBLC requires SRC autophosphorylation at Tyr-419 and may lead to lysosomal degradation.;S-nitrosylation is important for activation of its kinase activity.;Dephosphorylated at Tyr-530 by PTPRJ (By similarity). Phosphorylated on Tyr-530 by c-Src kinase (CSK). The phosphorylated form is termed pp60c-src. Dephosphorylated by PTPRJ at Tyr-419. Normally maintained in an inactive conformation with the SH2 domain engaged with Tyr-530, the SH3 domain engaged with the SH2-kinase linker, and Tyr-419 dephosphorylated. Dephosphorylation of Tyr-530 as a result of protein tyrosine phosphatase (PTP) action disrupts the intramolecular interaction between the SH2 domain and Tyr-530, Tyr-419 can then become autophosphorylated, resulting in SRC activation. Phosphorylation of Tyr-530 by CSK allows this interaction to reform, resulting in SRC inactivation. CDK5-mediated phosphorylation at Ser-75 targets SRC to ubiquitin-dependent degradation and thus leads to cytoskeletal reorganization. Phosphorylated by PTK2/FAK1; this enhances kinase activity. Phosphorylated by PTK2B/PYK2; this enhances kinase activity.;SRC is phosphorylated by AURKA (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SRC is phosphorylated by FLT1 (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily. ErbB signaling pathway;Chemokine signaling pathway;Endocytosis;VEGF signaling pathway;Focal adhesion;Adherens junction;Tight junction;Gap junction;GABAergic synapse;Regulation of actin cytoskeleton;GnRH signaling pathway;Bacterial invasion of epithelial cells;Epithelial cell signaling in Helicobacter pylori infection;Shigellosis;Tuberculosis;CLEC7A (Dectin-1) signaling;G alpha (i) signalling events;G alpha (s) signalling events;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;RHO GTPases Activate Formins;EPH-Ephrin signaling;EPHB-mediated forward signaling;Ephrin signaling;EPH-ephrin mediated repulsion of cells;VEGFA-VEGFR2 Pathway;EPHA-mediated growth cone collapse;Recycling pathway of L1;Signaling by ERBB2;Nuclear signaling by ERBB4;RAF activation;MAP2K and MAPK activation;Signaling by SCF-KIT;Regulation of KIT signaling;CD28 co-stimulation;ADP signalling through P2Y purinoceptor 1;Thrombin signalling through proteinase activated receptors (PARs);Signal regulatory protein family interactions;Netrin mediated repulsion signals;Cyclin D associated events in G1;FCGR activation;PECAM1 interactions;NCAM signaling for neurite out-growth;CTLA4 inhibitory signaling;DCC mediated attractive signaling;Integrin alphaIIb beta3 signaling;VEGFR2 mediated cell proliferation;p38MAPK events;Signaling by EGFR;Spry regulation of FGF signaling;Downregulation of ERBB4 signaling;GP1b-IX-V activation signalling;Downstream signal transduction;GAB1 signalosome;GRB2:SOS provides linkage to MAPK signaling for Integrins;p130Cas linkage to MAPK signaling for integrins;Regulation of commissural axon pathfinding by SLIT and ROBO;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;RET signaling;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;MET activates PTK2 signaling;InlA-mediated entry of Listeria monocytogenes into host cells;Regulation of RUNX3 expression and activity;Receptor Mediated Mitophagy;Regulation of RUNX1 Expression and Activity;RUNX2 regulates osteoblast differentiation;Activated NTRK3 signals through PI3K;Activated NTRK2 signals through FYN;Long-term potentiation;Extra-nuclear estrogen signaling;Regulation of gap junction activity PE1 20 +NX_P12955 Xaa-Pro dipeptidase 493 54548 5.64 0 Nucleoplasm Prolidase deficiency Splits dipeptides with a prolyl or hydroxyprolyl residue in the C-terminal position. Plays an important role in collagen metabolism because the high level of iminoacids in collagen. NA Belongs to the peptidase M24B family. Eukaryotic-type prolidase subfamily. NA PE1 19 +NX_P12956 X-ray repair cross-complementing protein 6 609 69843 6.23 0 Nucleoplasm;Nucleus;Chromosome NA Single-stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3'-5' direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic subunit PRKDC to DNA by 100-fold. The XRCC5/6 dimer is probably involved in stabilizing broken DNA ends and bringing them together. The assembly of the DNA-PK complex to DNA ends is required for the NHEJ ligation step. Required for osteocalcin gene expression. Probably also acts as a 5'-deoxyribose-5-phosphate lyase (5'-dRP lyase), by catalyzing the beta-elimination of the 5' deoxyribose-5-phosphate at an abasic site near double-strand breaks. 5'-dRP lyase activity allows to 'clean' the termini of abasic sites, a class of nucleotide damage commonly associated with strand breaks, before such broken ends can be joined. The XRCC5/6 dimer together with APEX1 acts as a negative regulator of transcription. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway. ADP-ribosylated by PARP3.;Phosphorylation by PRKDC may enhance helicase activity. Phosphorylation of Ser-51 does not affect DNA repair. Belongs to the ku70 family. Non-homologous end-joining;Cytosolic sensors of pathogen-associated DNA;IRF3-mediated induction of type I IFN;2-LTR circle formation;Nonhomologous End-Joining (NHEJ);Neutrophil degranulation PE1 22 +NX_P12980 Protein lyl-1 280 29938 10.69 0 Golgi apparatus;Nucleus NA NA NA NA NA PE1 19 +NX_P13010 X-ray repair cross-complementing protein 5 732 82705 5.55 0 Nucleoplasm;Nucleolus;Nucleus;Chromosome NA Single-stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3'-5' direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic subunit PRKDC to DNA by 100-fold. The XRCC5/6 dimer is probably involved in stabilizing broken DNA ends and bringing them together (PubMed:12145306, PubMed:20383123, PubMed:7957065, PubMed:8621488). The assembly of the DNA-PK complex to DNA ends is required for the NHEJ ligation step. In association with NAA15, the XRCC5/6 dimer binds to the osteocalcin promoter and activates osteocalcin expression (PubMed:20383123). The XRCC5/6 dimer probably also acts as a 5'-deoxyribose-5-phosphate lyase (5'-dRP lyase), by catalyzing the beta-elimination of the 5' deoxyribose-5-phosphate at an abasic site near double-strand breaks. XRCC5 probably acts as the catalytic subunit of 5'-dRP activity, and allows to 'clean' the termini of abasic sites, a class of nucleotide damage commonly associated with strand breaks, before such broken ends can be joined. The XRCC5/6 dimer together with APEX1 acts as a negative regulator of transcription (PubMed:8621488). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway. ADP-ribosylated by PARP3.;Phosphorylated on serine residues. Phosphorylation by PRKDC may enhance helicase activity.;Sumoylated.;Ubiquitinated by RNF8 via 'Lys-48'-linked ubiquitination following DNA damage, leading to its degradation and removal from DNA damage sites (PubMed:22266820). Ubiquitinated by RNF138, leading to remove the Ku complex from DNA breaks (PubMed:26502055). Belongs to the ku80 family. Non-homologous end-joining;Cytosolic sensors of pathogen-associated DNA;IRF3-mediated induction of type I IFN;2-LTR circle formation;Nonhomologous End-Joining (NHEJ);Neutrophil degranulation PE1 2 +NX_P13051 Uracil-DNA glycosylase 313 34645 9.37 0 Cytosol;Mitochondrion;Nucleus Immunodeficiency with hyper-IgM 5 Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine. Is processed by cleavage of a transit peptide. Belongs to the uracil-DNA glycosylase (UDG) superfamily. UNG family. Base excision repair;Primary immunodeficiency;Displacement of DNA glycosylase by APEX1;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine PE1 12 +NX_P13056 Nuclear receptor subfamily 2 group C member 1 603 67315 5.89 0 Cell junction;Nucleoplasm;PML body;Cytosol;Nucleus NA Orphan nuclear receptor. Binds the IR7 element in the promoter of its own gene in an autoregulatory negative feedback mechanism. Primarily repressor of a broad range of genes. Binds to hormone response elements (HREs) consisting of two 5'-AGGTCA-3' half site direct repeat consensus sequences. Together with NR2C2, forms the core of the DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription. Also activator of OCT4 gene expression. May be involved in stem cell proliferation and differentiation. Mediator of retinoic acid-regulated preadipocyte proliferation. Sumoylation requires both PIAS1 and UBE2I. Sumoylation appears to dissociate NR2C1 from the PML nuclear bodies. Enhances the interaction with NRIP1 but inhibits interaction with KAT2B. In proliferating cells, stimulation by all-trans retinoic acid, activation of MAPK1-mediated phosphorylation and recruitment to PML bodies with subsequent sumoylation, suppresses OCT4 expression (By similarity).;Phosphorylated on several serine and threonine residues. Phosphorylation on Thr-222, stimulated by all-trans retinoic acid (atRA) mediates PML location and sumoylation in proliferating cells which then modulates its association with effector molecules, KAT2B and NRIP1. Phosphorylation on Ser-581 by PKC is important for protein stability and function as activator of RARB (By similarity). Belongs to the nuclear hormone receptor family. NR2 subfamily. Nuclear Receptor transcription pathway;SUMOylation of intracellular receptors PE1 12 +NX_P13073 Cytochrome c oxidase subunit 4 isoform 1, mitochondrial 169 19577 9.52 0 Mitochondrion inner membrane;Mitochondrion NA This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. NA Belongs to the cytochrome c oxidase IV family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 16 +NX_P13164 Interferon-induced transmembrane protein 1 125 13964 7.78 1 Cytosol;Cell membrane NA IFN-induced antiviral protein which inhibits the entry of viruses to the host cell cytoplasm, permitting endocytosis, but preventing subsequent viral fusion and release of viral contents into the cytosol. Active against multiple viruses, including influenza A virus, SARS coronavirus (SARS-CoV), Marburg virus (MARV), Ebola virus (EBOV), Dengue virus (DNV), West Nile virus (WNV), human immunodeficiency virus type 1 (HIV-1) and hepatitis C virus (HCV). Can inhibit: influenza virus hemagglutinin protein-mediated viral entry, MARV and EBOV GP1,2-mediated viral entry and SARS-CoV S protein-mediated viral entry. Also implicated in cell adhesion and control of cell growth and migration. Plays a key role in the antiproliferative action of IFN-gamma either by inhibiting the ERK activation or by arresting cell growth in G1 phase in a p53-dependent manner. Acts as a positive regulator of osteoblast differentiation. Palmitoylation on membrane-proximal cysteines controls clustering in membrane compartments and antiviral activity against influenza virus. Belongs to the CD225/Dispanin family. B cell receptor signaling pathway;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Interferon alpha/beta signaling PE1 11 +NX_P13196 5-aminolevulinate synthase, nonspecific, mitochondrial 640 70581 8.74 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion NA NA NA Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1.;Glycine, serine and threonine metabolism;Porphyrin and chlorophyll metabolism;Metabolic pathways;PPARA activates gene expression;Transcriptional activation of mitochondrial biogenesis;Heme biosynthesis PE1 3 +NX_P13224 Platelet glycoprotein Ib beta chain 206 21718 9.67 1 Membrane Bernard-Soulier syndrome Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium. NA NA ECM-receptor interaction;Hematopoietic cell lineage;Platelet Adhesion to exposed collagen;Intrinsic Pathway of Fibrin Clot Formation;GP1b-IX-V activation signalling;Platelet Aggregation (Plug Formation) PE1 22 +NX_P13232 Interleukin-7 177 20187 8.87 0 Secreted Epidermodysplasia verruciformis 5 Hematopoietic growth factor capable of stimulating the proliferation of lymphoid progenitors. It is important for proliferation during certain stages of B-cell maturation. NA Belongs to the IL-7/IL-9 family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Hematopoietic cell lineage;Interleukin-7 signaling PE1 8 +NX_P13236 C-C motif chemokine 4 92 10212 5.13 0 Secreted NA Monokine with inflammatory and chemokinetic properties. Binds to CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant MIP-1-beta induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form MIP-1-beta(3-69) retains the abilities to induce down-modulation of surface expression of the chemokine receptor CCR5 and to inhibit the CCR5-mediated entry of HIV-1 in T-cells. MIP-1-beta(3-69) is also a ligand for CCR1 and CCR2 isoform B. N-terminal processed form MIP-1-beta(3-69) is produced by proteolytic cleavage after secretion from peripheral blood lymphocytes. Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Cytosolic DNA-sensing pathway;Salmonella infection;Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Toll-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Salmonella infection;Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Cytosolic DNA-sensing pathway;Salmonella infection;G alpha (i) signalling events;Interleukin-10 signaling PE1 17 +NX_P13284 Gamma-interferon-inducible lysosomal thiol reductase 250 27964 4.79 0 Cytoplasmic vesicle;Cytosol;Secreted;Lysosome NA Lysosomal thiol reductase that can reduce protein disulfide bonds. May facilitate the complete unfolding of proteins destined for lysosomal degradation. Plays an important role in antigen processing. Facilitates the generation of MHC class II-restricted epitodes from disulfide bond-containing antigen by the endocytic reduction of disulfide bonds (By similarity). Facilitates also MHC class I-restricted recognition of exogenous antigens containing disulfide bonds by CD8+ T-cells or crosspresentation (By similarity). N-glycosylated. Sugar chains contain mannose-6-phosphate.;Synthesized as a 35 kDa precursor which is then processed into the mature 30 kDa form via cleavage of N-terminal and C-terminal propeptides. Processing of the precursor is mediated by multiple lysosomal proteases. Belongs to the GILT family. Antigen processing and presentation;MHC class II antigen presentation;Interferon gamma signaling PE1 19 +NX_P13349 Myogenic factor 5 255 28296 5.9 0 Nucleoplasm;Nucleus Ophthalmoplegia, external, with rib and vertebral anomalies Transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation (PubMed:29887215). Together with MYOG and MYOD1, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein. NA NA Myogenesis PE1 12 +NX_P13378 Homeobox protein Hox-D8 290 31911 8.7 0 Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. NA PE1 2 +NX_P13385 Teratocarcinoma-derived growth factor 1 188 21169 8.54 0 Secreted;Cell membrane NA GPI-anchored cell membrane protein involved in Nodal signaling. Cell-associated TDGF1 acts as a Nodal coreceptor in cis. Shedding of TDGF1 by TMEM8A modulates Nodal signaling by allowing soluble TDGF1 to act as a Nodal coreceptor on other cells (PubMed:27881714). Could play a role in the determination of the epiblastic cells that subsequently give rise to the mesoderm (PubMed:11909953). The GPI-anchor is attached to the protein in the endoplasmic reticulum and serves to target the protein to the cell surface. There, it is processed by GPI processing phospholipase A2 (TMEM8A), removing an acyl-chain at the sn-2 position of GPI and releasing TDGF1 as a lysophosphatidylinositol-bearing form, which is further cleaved by phospholipase D (GPLD1) into a soluble form. Belongs to the EGF-CFC (Cripto-1/FRL1/Cryptic) family. POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation;Signaling by NODAL;Regulation of signaling by NODAL PE1 3 +NX_P13473 Lysosome-associated membrane glycoprotein 2 410 44961 5.35 1 Autophagosome membrane;Endosome membrane;Cell membrane;Lysosome membrane;Cytoplasmic vesicle Danon disease Modulates chaperone-mediated autophagy. Decreases presentation of endogenous antigens by MHCII. Does not play a role in the presentation of exogenous and membrane-derived antigens by MHCII.;Plays an important role in chaperone-mediated autophagy, a process that mediates lysosomal degradation of proteins in response to various stresses and as part of the normal turnover of proteins with a long biological half-live (PubMed:8662539, PubMed:11082038, PubMed:18644871, PubMed:24880125, PubMed:27628032). Functions by binding target proteins, such as GAPDH and MLLT11, and targeting them for lysosomal degradation (PubMed:8662539, PubMed:11082038, PubMed:18644871, PubMed:24880125). Plays a role in lysosomal protein degradation in response to starvation (By similarity). Required for the fusion of autophagosomes with lysosomes during autophagy (PubMed:27628032). Cells that lack LAMP2 express normal levels of VAMP8, but fail to accumulate STX17 on autophagosomes, which is the most likely explanation for the lack of fusion between autophagosomes and lysosomes (PubMed:27628032). Required for normal degradation of the contents of autophagosomes (PubMed:27628032). Required for efficient MHCII-mediated presentation of exogenous antigens via its function in lysosomal protein degradation; antigenic peptides generated by proteases in the endosomal/lysosomal compartment are captured by nascent MHCII subunits (PubMed:20518820). Is not required for efficient MHCII-mediated presentation of endogenous antigens (PubMed:20518820). O- and N-glycosylated; some of the 16 N-linked glycans are polylactosaminoglycans. Belongs to the LAMP family. Lysosome;Phagosome;Tuberculosis;Platelet degranulation;Neutrophil degranulation;Chaperone Mediated Autophagy PE1 X +NX_P13489 Ribonuclease inhibitor 461 49973 4.71 0 Cytoplasm;Nucleoplasm;Cytosol NA Ribonuclease inhibitor which inhibits RNASE1, RNASE2 and ANG. May play a role in redox homeostasis. The N-terminus is blocked.;At least 30 of the 32 cysteine residues are in the reduced form. NA NA PE1 11 +NX_P13497 Bone morphogenetic protein 1 986 111249 6.48 0 trans-Golgi network;Extracellular matrix Osteogenesis imperfecta 13 Cleaves the C-terminal propeptides of procollagen I, II and III. Induces cartilage and bone formation. May participate in dorsoventral patterning during early development by cleaving chordin (CHRD). Responsible for the proteolytic activation of lysyl oxidase LOX. Proteolytically activated in the trans-Golgi network by furin-like/paired basic proprotein convertases, cleavage is not required for secretion. NA Degradation of the extracellular matrix;Collagen biosynthesis and modifying enzymes;Crosslinking of collagen fibrils;Anchoring fibril formation;HDL assembly PE1 8 +NX_P13498 Cytochrome b-245 light chain 195 21013 9.58 0 Cell membrane Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide. The heme prosthetic group could be coordinated with residues of the light chain, the heavy chain, or both, and it is possible that more than one heme is present per cytochrome b-245.;Phosphorylation at Thr-147 enhances NADPH oxidase activity by promoting p47phox binding.;Ubiquitinated at Lys-149 likely by RNF145. Belongs to the p22phox family. Phagosome;Osteoclast differentiation;Leukocyte transendothelial migration;Leishmaniasis;Detoxification of Reactive Oxygen Species;VEGFA-VEGFR2 Pathway;ROS and RNS production in phagocytes;Cross-presentation of particulate exogenous antigens (phagosomes);RHO GTPases Activate NADPH Oxidases;Neutrophil degranulation PE1 16 +NX_P13500 C-C motif chemokine 2 99 11025 9.4 0 Golgi apparatus;Secreted;Cytoplasmic vesicle NA Acts as a ligand for C-C chemokine receptor CCR2 (PubMed:9837883, PubMed:10587439, PubMed:10529171). Signals through binding and activation of CCR2 and induces a strong chemotactic response and mobilization of intracellular calcium ions (PubMed:9837883, PubMed:10587439). Exhibits a chemotactic activity for monocytes and basophils but not neutrophils or eosinophils (PubMed:8627182, PubMed:9792674, PubMed:8195247). May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis (PubMed:8107690). N-Glycosylated.;Processing at the N-terminus can regulate receptor and target cell selectivity (PubMed:8627182). Deletion of the N-terminal residue converts it from an activator of basophil to an eosinophil chemoattractant (PubMed:8627182). Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;NOD-like receptor signaling pathway;Chagas disease (American trypanosomiasis);Malaria;Influenza A;Herpes simplex infection;Rheumatoid arthritis;ATF4 activates genes in response to endoplasmic reticulum stress;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling PE1 17 +NX_P13501 C-C motif chemokine 5 91 9990 9.27 0 Secreted NA Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1-infection. The second processed form RANTES(4-68) exhibits reduced chemotactic and HIV-suppressive activity compared with RANTES(1-68) and RANTES(3-68) and is generated by an unidentified enzyme associated with monocytes and neutrophils (PubMed:16791620, PubMed:1380064, PubMed:8525373, PubMed:9516414, PubMed:15923218). May also be an agonist of the G protein-coupled receptor GPR75, stimulating inositol trisphosphate production and calcium mobilization through its activation. Together with GPR75, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. By activating GPR75 may also play a role in insulin secretion by islet cells (PubMed:23979485). N-terminal processed form RANTES(3-68) is produced by proteolytic cleavage, probably by DPP4, after secretion from peripheral blood leukocytes and cultured sarcoma cells.;The identity of the O-linked saccharides at Ser-27 and Ser-28 are not reported in PubMed:1380064. They are assigned by similarity. Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Prion diseases;Epithelial cell signaling in Helicobacter pylori infection;Chagas disease (American trypanosomiasis);Influenza A;Herpes simplex infection;Rheumatoid arthritis;G alpha (i) signalling events;Chemokine receptors bind chemokines;Interleukin-10 signaling PE1 17 +NX_P13521 Secretogranin-2 617 70941 4.67 0 Golgi apparatus;Secreted;Cytoplasmic vesicle NA Neuroendocrine protein of the granin family that regulates the biogenesis of secretory granules. O-glycosylated. Belongs to the chromogranin/secretogranin protein family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 2 +NX_P13533 Myosin-6 1939 223735 5.58 0 Myofibril Sick sinus syndrome 3;Cardiomyopathy, dilated 1EE;Cardiomyopathy, familial hypertrophic 14;Atrial septal defect 3 Muscle contraction. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Cardiac muscle contraction;Tight junction;Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;Viral myocarditis;Striated Muscle Contraction PE1 14 +NX_P13535 Myosin-8 1937 222763 5.59 0 Myofibril Arthrogryposis, distal, 7;Carney complex variant Muscle contraction. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Tight junction;Viral myocarditis;Striated Muscle Contraction PE1 17 +NX_P13569 Cystic fibrosis transmembrane conductance regulator 1480 168142 8.91 12 Endoplasmic reticulum membrane;Cell membrane;Recycling endosome membrane;Early endosome membrane;Apical cell membrane;Nucleus Congenital bilateral absence of the vas deferens;Cystic fibrosis Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to ATP hydrolysis (PubMed:8910473). The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428). Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens (PubMed:14668433, PubMed:16645176, PubMed:26823428). Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex (PubMed:17434346, PubMed:27941075, PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:27941075). May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 (PubMed:12403779). Can inhibit the chloride channel activity of ANO1 (PubMed:22178883). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:19923167, PubMed:27714810). Ubiquitinated, leading to its degradation in the lysosome (PubMed:19398555). Deubiquitination by USP10 in early endosomes enhances its endocytic recycling to the cell membrane (PubMed:19398555). Ubiquitinated by RNF185 during ER stress (PubMed:24019521).;Phosphorylated; cAMP treatment promotes phosphorylation and activates the channel (PubMed:12588899, PubMed:17036051, PubMed:8910473). Dephosphorylation decreases the ATPase activity (in vitro) (PubMed:8910473). Phosphorylation at PKA sites activates the channel (PubMed:10792060, PubMed:12519745, PubMed:12588899, PubMed:25330774). Phosphorylation at PKC sites enhances the response to phosphorylation by PKA (PubMed:12588899). Phosphorylated by AMPK; this inhibits channel activity (PubMed:12519745).;N-glycosylated.;CFTR is phosphorylated by PRKG2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);CFTR is phosphorylated by CAMK1 Belongs to the ABC transporter superfamily. ABCC family. CFTR transporter (TC 3.A.1.202) subfamily. ABC transporters;Gastric acid secretion;Pancreatic secretion;Bile secretion;Vibrio cholerae infection;ABC-family proteins mediated transport;RHO GTPases regulate CFTR trafficking;Defective CFTR causes cystic fibrosis;Ub-specific processing proteases;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 7 +NX_P13584 Cytochrome P450 4B1 511 58991 8.47 0 Microsome membrane;Cytoplasmic vesicle;Endoplasmic reticulum membrane NA Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. NA Belongs to the cytochrome P450 family. Miscellaneous substrates;Fatty acids;Eicosanoids;Synthesis of Leukotrienes (LT) and Eoxins (EX) PE1 1 +NX_P13591 Neural cell adhesion molecule 1 858 94574 4.79 1 Cytosol;Secreted;Cell membrane NA This protein is a cell adhesion molecule involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc.;(Microbial infection) Acts as a receptor for rabies virus. NA NA Cell adhesion molecules (CAMs);Prion diseases;RAF/MAP kinase cascade;Interferon gamma signaling;NCAM1 interactions;Signal transduction by L1;ECM proteoglycans;NCAM signaling for neurite out-growth PE1 11 +NX_P13598 Intercellular adhesion molecule 2 275 30654 7.09 1 Membrane;Cytosol;Microvillus;Cell membrane NA ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM2 may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance. NA Belongs to the immunoglobulin superfamily. ICAM family. Cell adhesion molecules (CAMs);Natural killer cell mediated cytotoxicity;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Integrin cell surface interactions;CD209 (DC-SIGN) signaling PE1 17 +NX_P13611 Versican core protein 3396 372820 4.43 0 Photoreceptor outer segment;Interphotoreceptor matrix;Extracellular matrix;Cytoplasmic vesicle Wagner vitreoretinopathy May play a role in intercellular signaling and in connecting cells with the extracellular matrix. May take part in the regulation of cell motility, growth and differentiation. Binds hyaluronic acid. Phosphorylated by FAM20C in the extracellular medium. Belongs to the aggrecan/versican proteoglycan family. Cell adhesion molecules (CAMs);Chondroitin sulfate biosynthesis;A tetrasaccharide linker sequence is required for GAG synthesis;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;ECM proteoglycans;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Dermatan sulfate biosynthesis;CS/DS degradation;Defective CHST3 causes SEDCJD;Defective CHST14 causes EDS, musculocontractural type;Defective CHSY1 causes TPBS;Defective B3GALT6 causes EDSP2 and SEMDJL1;Post-translational protein phosphorylation PE1 5 +NX_P13612 Integrin alpha-4 1032 114900 6.05 1 Membrane;Cell membrane NA Integrins alpha-4/beta-1 (VLA-4) and alpha-4/beta-7 are receptors for fibronectin. They recognize one or more domains within the alternatively spliced CS-1 and CS-5 regions of fibronectin. They are also receptors for VCAM1. Integrin alpha-4/beta-1 recognizes the sequence Q-I-D-S in VCAM1. Integrin alpha-4/beta-7 is also a receptor for MADCAM1. It recognizes the sequence L-D-T in MADCAM1. On activated endothelial cells integrin VLA-4 triggers homotypic aggregation for most VLA-4-positive leukocyte cell lines. It may also participate in cytolytic T-cell interactions with target cells. ITGA4:ITGB1 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415). ITGA4:ITGB1 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). Phosphorylation on Ser-1027 inhibits PXN binding. Belongs to the integrin alpha chain family. Focal adhesion;ECM-receptor interaction;Cell adhesion molecules (CAMs);Hematopoietic cell lineage;Leukocyte transendothelial migration;Intestinal immune network for IgA production;Regulation of actin cytoskeleton;Leishmaniasis;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Integrin cell surface interactions;Cell surface interactions at the vascular wall;RUNX3 Regulates Immune Response and Cell Migration PE1 2 +NX_P13631 Retinoic acid receptor gamma 454 50342 7.44 0 Cytoplasm;Nucleoplasm;Nucleus NA Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence of ligand, acts mainly as an activator of gene expression due to weak binding to corepressors. Required for limb bud development. In concert with RARA or RARB, required for skeletal growth, matrix homeostasis and growth plate function (By similarity). NA Belongs to the nuclear hormone receptor family. NR1 subfamily. Nuclear Receptor transcription pathway;Signaling by Retinoic Acid;Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 12 +NX_P13637 Sodium/potassium-transporting ATPase subunit alpha-3 1013 111749 5.22 10 Cell membrane Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss;Alternating hemiplegia of childhood 2;Dystonia 12 This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. Cardiac muscle contraction;Aldosterone-regulated sodium reabsorption;Endocrine and other factor-regulated calcium reabsorption;Proximal tubule bicarbonate reclamation;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Carbohydrate digestion and absorption;Protein digestion and absorption;Bile secretion;Mineral absorption;Ion transport by P-type ATPases;Ion homeostasis PE1 19 +NX_P13639 Elongation factor 2 858 95338 6.41 0 Cytoplasm;Cytosol;Nucleus;Cell membrane Spinocerebellar ataxia 26 Catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome. SUMOylated following phosphorylation by CSK, promotes proteolytic cleavage.;Diphthamide is 2-[3-carboxyamido-3-(trimethyl-ammonio)propyl]histidine (By similarity).;(Microbial infection) Diphthamide can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A, thus arresting protein synthesis.;Phosphorylation by EF-2 kinase completely inactivates EF-2; it requires prior phosphorylation by CDK2 at Ser-595 during mitotic prometaphase. Phosphorylation by CSK promotes SUMOylation, proteolytic cleavage, and nuclear translocation if the C-terminal fragment.;ISGylated.;Proteolytically processed at two sites following phosphorylation by CSK. Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily. Uptake and function of diphtheria toxin;Peptide chain elongation;Synthesis of diphthamide-EEF2;Neutrophil degranulation;Protein methylation PE1 19 +NX_P13640 Metallothionein-1G 62 6141 8.38 0 NA NA Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. NA Belongs to the metallothionein superfamily. Type 1 family. Mineral absorption;Metallothioneins bind metals PE1 16 +NX_P13645 Keratin, type I cytoskeletal 10 584 58827 5.13 0 Cell surface;Extracellular space Ichthyosis annular epidermolytic;Erythroderma, ichthyosiform, congenital reticular;Epidermolytic hyperkeratosis (Microbial infection) Binds S.pneumoniae PsrP, mediating adherence of the bacteria to lung cell lines. Reduction of levels of KRT10 keratin decrease adherence, overexpression increases adherence. Neither protein has to be glycosylated for the interaction to occur.;(Microbial infection) Acts as a mediator of S.aureus adherence to desquamated nasal epithelial cells via clfB, and hence may play a role in nasal colonization.;Plays a role in the establishment of the epidermal barrier on plantar skin. NA Belongs to the intermediate filament family. Staphylococcus aureus infection;Formation of the cornified envelope;Keratinization PE1 17 +NX_P13646 Keratin, type I cytoskeletal 13 458 49588 4.91 0 Cytoskeleton White sponge nevus 2 NA O-glycosylated; glycans consist of single N-acetylglucosamine residues. Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_P13647 Keratin, type II cytoskeletal 5 590 62378 7.58 0 Cytoskeleton Epidermolysis bullosa simplex, with mottled pigmentation;Epidermolysis bullosa simplex, Weber-Cockayne type;Epidermolysis bullosa simplex, autosomal recessive 1;Epidermolysis bullosa simplex, with migratory circinate erythema;Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, Dowling-Meara type;Dowling-Degos disease 1 NA NA Belongs to the intermediate filament family. Type I hemidesmosome assembly;Formation of the cornified envelope;Keratinization PE1 12 +NX_P13667 Protein disulfide-isomerase A4 645 72932 4.96 0 Endoplasmic reticulum;Endoplasmic reticulum lumen;Melanosome NA NA NA Belongs to the protein disulfide isomerase family. Protein processing in endoplasmic reticulum;Vibrio cholerae infection PE1 7 +NX_P13671 Complement component C6 934 104786 6.39 0 Secreted Complement component 6 deficiency Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. All cysteine residues are assumed to be cross-linked to one another. Individual modules containing an even number of conserved cysteine residues are supposed to have disulfide linkages only within the same module. Belongs to the complement C6/C7/C8/C9 family. Complement and coagulation cascades;Prion diseases;Systemic lupus erythematosus;Terminal pathway of complement;Regulation of Complement cascade PE1 5 +NX_P13674 Prolyl 4-hydroxylase subunit alpha-1 534 61049 5.7 0 Endoplasmic reticulum;Cytoplasmic vesicle;Endoplasmic reticulum lumen;Mitochondrion NA Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins. NA Belongs to the P4HA family. Arginine and proline metabolism;Metabolic pathways;Collagen biosynthesis and modifying enzymes PE1 10 +NX_P13682 Zinc finger protein 35 527 59089 8.44 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. Involved in cell differentiation and/or proliferation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 3 +NX_P13686 Tartrate-resistant acid phosphatase type 5 325 36599 8.82 0 Cytosol;Lysosome Spondyloenchondrodysplasia with immune dysregulation Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T-cell leukemias. NA Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family. Riboflavin metabolism;Lysosome;Osteoclast differentiation;Rheumatoid arthritis;Vitamin B2 (riboflavin) metabolism PE1 19 +NX_P13688 Carcinoembryonic antigen-related cell adhesion molecule 1 526 57560 5.65 1 Basal cell membrane;Lateral cell membrane;Cell membrane;Cell junction;Adherens junction;Secreted;Microvillus membrane;Secretory vesicle membrane;Apical cell membrane NA Cell adhesion protein that mediates homophilic cell adhesion in a calcium-independent manner (By similarity). Promotes populations of T cells regulating IgA production and secretion associated with control of the commensal microbiota and resistance to enteropathogens (By similarity).;Cell adhesion protein that mediates homophilic cell adhesion in a calcium-independent manner (By similarity). Plays a role as coinhibitory receptor in immune response, insulin action and functions also as an activator during angiogenesis (PubMed:18424730, PubMed:23696226, PubMed:25363763). Its coinhibitory receptor function is phosphorylation- and PTPN6 -dependent, which in turn, suppress signal transduction of associated receptors by dephosphorylation of their downstream effectors. Plays a role in immune response, of T cells, natural killer (NK) and neutrophils (PubMed:18424730, PubMed:23696226). Upon TCR/CD3 complex stimulation, inhibits TCR-mediated cytotoxicity by blocking granule exocytosis by mediating homophilic binding to adjacent cells, allowing interaction with and phosphorylation by LCK and interaction with the TCR/CD3 complex which recruits PTPN6 resulting in dephosphorylation of CD247 and ZAP70 (PubMed:18424730). Also inhibits T cell proliferation and cytokine production through inhibition of JNK cascade and plays a crucial role in regulating autoimmunity and anti-tumor immunity by inhibiting T cell through its interaction with HAVCR2 (PubMed:25363763). Upon natural killer (NK) cells activation, inhibit KLRK1-mediated cytolysis of CEACAM1-bearing tumor cells by trans-homophilic interactions with CEACAM1 on the target cell and lead to cis-interaction between CEACAM1 and KLRK1, allowing PTPN6 recruitment and then VAV1 dephosphorylation (PubMed:23696226). Upon neutrophils activation negatively regulates IL1B production by recruiting PTPN6 to a SYK-TLR4-CEACAM1 complex, that dephosphorylates SYK, reducing the production of reactive oxygen species (ROS) and lysosome disruption, which in turn, reduces the activity of the inflammasome. Downregulates neutrophil production by acting as a coinhibitory receptor for CSF3R by downregulating the CSF3R-STAT3 pathway through recruitment of PTPN6 that dephosphorylates CSF3R (By similarity). Also regulates insulin action by promoting INS clearance and regulating lipogenesis in liver through regulating insulin signaling (By similarity). Upon INS stimulation, undergoes phosphorylation by INSR leading to INS clearance by increasing receptor-mediated insulin endocytosis. This inernalization promotes interaction with FASN leading to receptor-mediated insulin degradation and to reduction of FASN activity leading to negative regulation of fatty acid synthesis. INSR-mediated phosphorylation also provokes a down-regulation of cell proliferation through SHC1 interaction resulting in decrease coupling of SHC1 to the MAPK3/ERK1-MAPK1/ERK2 and phosphatidylinositol 3-kinase pathways (By similarity). Functions as activator in angiogenesis by promoting blood vessel remodeling through endothelial cell differentiation and migration and in arteriogenesis by increasing the number of collateral arteries and collateral vessel calibers after ischemia. Also regulates vascular permeability through the VEGFR2 signaling pathway resulting in control of nitric oxide production (By similarity). Downregulates cell growth in response to EGF through its interaction with SHC1 that mediates interaction with EGFR resulting in decrease coupling of SHC1 to the MAPK3/ERK1-MAPK1/ERK2 pathway (By similarity). Negatively regulates platelet aggregation by decreasing platelet adhesion on type I collagen through the GPVI-FcRgamma complex (By similarity). Inhibits cell migration and cell scattering through interaction with FLNA; interfers with the interaction of FLNA with RALA (PubMed:16291724). Mediates bile acid transport activity in a phosphorylation dependent manner (By similarity). Negatively regulates osteoclastogenesis (By similarity). Phosphorylated on serine and threonine.;Is phosphorylated on tyrosine by Src family kinases like SRC and LCK and by receptor like CSF3R, EGFR and INSR upon stimulation (PubMed:15467833, PubMed:18424730, PubMed:7478590). Phosphorylated at Ser-508; mediates activity. Phosphorylated at Tyr-493; regulates activity (By similarity). Phosphorylated at Tyr-493 by EGFR and INSR upon stimulation; this phosphorylation is Ser-508-phosphorylation-dependent; mediates cellular internalization; increases interaction with downstream proteins like SHC1 and FASN (By similarity). Phosphorylated at Tyr-493 and Tyr-520 by LCK; mediates PTPN6 association and is regulated by homophilic ligation of CEACAM1 in the absence of T cell activation (PubMed:18424730). Phosphorylated at Tyr-520; mediates interaction with PTPN11 (By similarity).;Phosphorylated on serine and tyrosine (By similarity).;CEACAM1 is phosphorylated by EGFR (Phosphotyrosine:PTM-0255) Belongs to the immunoglobulin superfamily. CEA family. Cell surface interactions at the vascular wall;Fibronectin matrix formation;Neutrophil degranulation PE1 19 +NX_P13693 Translationally-controlled tumor protein 172 19595 4.84 0 Cytoplasm NA Involved in calcium binding and microtubule stabilization. NA Belongs to the TCTP family. NA PE1 13 +NX_P13716 Delta-aminolevulinic acid dehydratase 330 36295 6.32 0 NA Acute hepatic porphyria Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen. NA Belongs to the ALAD family. Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 1/4.;Porphyrin and chlorophyll metabolism;Metabolic pathways;Heme biosynthesis;Neutrophil degranulation PE1 9 +NX_P13725 Oncostatin-M 252 28484 10.71 0 Secreted NA Growth regulator. Inhibits the proliferation of a number of tumor cell lines. Stimulates proliferation of AIDS-KS cells. It regulates cytokine production, including IL-6, G-CSF and GM-CSF from endothelial cells. Uses both type I OSM receptor (heterodimers composed of LIFR and IL6ST) and type II OSM receptor (heterodimers composed of OSMR and IL6ST). Involved in the maturation of fetal hepatocytes, thereby promoting liver development and regeneration (By similarity). Propeptide processing is not important for receptor binding activity but may be important growth-inhibitory activity. Belongs to the LIF/OSM family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;IL-6-type cytokine receptor ligand interactions;Interleukin-4 and Interleukin-13 signaling PE1 22 +NX_P13726 Tissue factor 295 33068 6.64 1 Membrane;Cytoplasmic vesicle;Secreted NA Initiates blood coagulation by forming a complex with circulating factor VII or VIIa. The [TF:VIIa] complex activates factors IX or X by specific limited protolysis. TF plays a role in normal hemostasis by initiating the cell-surface assembly and propagation of the coagulation protease cascade. NA Belongs to the tissue factor family. Complement and coagulation cascades;Extrinsic Pathway of Fibrin Clot Formation PE1 1 +NX_P13727 Bone marrow proteoglycan 222 25206 6.32 0 Secreted;Secretory vesicle NA Cytotoxin and helminthotoxin. Also induces non-cytolytic histamine release from human basophils. Involved in antiparasitic defense mechanisms and immune hypersensitivity reactions. The proform acts as a proteinase inhibitor, reducing the activity of PAPPA. Nitrated. NA Asthma;Neutrophil degranulation PE1 11 +NX_P13747 HLA class I histocompatibility antigen, alpha chain E 358 40058 5.52 1 Cell membrane;Cytoplasmic vesicle;Secreted;Golgi apparatus membrane NA (Microbial infection) Viruses like human cytomegalovirus have evolved an escape mechanism whereby virus-induced down-regulation of host MHC class I molecules is coupled to the binding of viral peptides to HLA-E, restoring HLA-E expression and inducing HLA-E-dependent NK cell immune tolerance to infected cells.;Non-classical major histocompatibility class Ib molecule involved in immune self-nonself discrimination. In complex with B2M/beta-2-microglobulin binds nonamer self-peptides derived from the signal sequence of classical MHC class Ia molecules (VL9 peptides) (PubMed:9754572, PubMed:18083576, PubMed:18339401). Peptide-bound HLA-E-B2M heterotrimeric complex primarily functions as a ligand for natural killer (NK) cell inhibitory receptor KLRD1-KLRC1, enabling NK cells to monitor the expression of other MHC class I molecules in healthy cells and to tolerate self (PubMed:9754572, PubMed:9486650, PubMed:17179229, PubMed:18083576). Upon cellular stress, preferentially binds signal sequence-derived peptides from stress-induced chaperones and is no longer recognized by NK cell inhibitory receptor KLRD1-KLRC1, resulting in impaired protection from NK cells (PubMed:12461076). Binds signal sequence-derived peptides from non-classical MHC class Ib HLA-G molecules and acts as a ligand for NK cell activating receptor KLRD1-KLRC2, likely playing a role in the generation and effector functions of adaptive NK cells and in maternal-fetal tolerance during pregnancy (PubMed:9754572, PubMed:30134159). Besides self-peptides, can also bind and present pathogen-derived peptides conformationally similar to VL9 peptides to alpha-beta T cell receptor (TCR) on unconventional CD8+ cytotoxic T cells, ultimately triggering antimicrobial immune response (PubMed:16474394, PubMed:30087334). The soluble form (sHLA-E) can be partly produced by proteolytic cleavage at the cell surface (shedding) by a matrix metalloproteinase. Alternative splicing is also suggested as a mechanism for generation of sHLA-E, although it remains to be proved.;N-glycosylated. Belongs to the MHC class I family. Endocytosis;Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Natural killer cell mediated cytotoxicity;Type I diabetes mellitus;HTLV-I infection;Herpes simplex infection;Autoimmune thyroid disease;Allograft rejection;Graft-versus-host disease;Viral myocarditis;ER-Phagosome pathway;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Endosomal/Vacuolar pathway;Interferon gamma signaling;Interferon alpha/beta signaling;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;DAP12 signaling;DAP12 interactions PE1 6 +NX_P13760 HLA class II histocompatibility antigen, DRB1-4 beta chain 266 30112 6.71 1 Endoplasmic reticulum membrane;Endosome membrane;Cell membrane;trans-Golgi network membrane;Lysosome membrane;Late endosome membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route; where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and efficient peptide loading. Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II. Belongs to the MHC class II family. MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_P13761 HLA class II histocompatibility antigen, DRB1-7 beta chain 266 29822 7.04 1 Endoplasmic reticulum membrane;Cell membrane;Endosome membrane;Lysosome membrane;trans-Golgi network membrane;Late endosome membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route; where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and efficient peptide loading. Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II. Belongs to the MHC class II family. MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_P13762 HLA class II histocompatibility antigen, DR beta 4 chain 266 29941 6.95 1 Endoplasmic reticulum membrane;Endosome membrane;Cell membrane;Lysosome membrane;trans-Golgi network membrane;Late endosome membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II. When associated with ubiquitination of the alpha subunit of HLA-DR: HLA-DRA 'Lys-244', the down-regulation of MHC class II may be highly effective. Belongs to the MHC class II family. Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Hematopoietic cell lineage;Intestinal immune network for IgA production;Type I diabetes mellitus;Leishmaniasis;Toxoplasmosis;Staphylococcus aureus infection;Tuberculosis;Influenza A;HTLV-I infection;Herpes simplex infection;Asthma;Autoimmune thyroid disease;Systemic lupus erythematosus;Rheumatoid arthritis;Allograft rejection;Graft-versus-host disease;Viral myocarditis;MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_P13765 HLA class II histocompatibility antigen, DO beta chain 273 30822 6.31 1 Lysosome membrane;Endosome membrane NA Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the HLA-DM molecule in B-cells. Modifies peptide exchange activity of HLA-DM. NA Belongs to the MHC class II family. Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Intestinal immune network for IgA production;Type I diabetes mellitus;Leishmaniasis;Toxoplasmosis;Staphylococcus aureus infection;Tuberculosis;Influenza A;HTLV-I infection;Herpes simplex infection;Asthma;Autoimmune thyroid disease;Systemic lupus erythematosus;Rheumatoid arthritis;Allograft rejection;Graft-versus-host disease;Viral myocarditis;MHC class II antigen presentation PE1 6 +NX_P13796 Plastin-2 627 70288 5.29 0 Cell membrane;Cell junction;Cell projection;Ruffle membrane;Cytosol;Cytoskeleton NA Actin-binding protein (PubMed:16636079, PubMed:17294403, PubMed:28493397). Plays a role in the activation of T-cells in response to costimulation through TCR/CD3 and CD2 or CD28 (PubMed:17294403). Modulates the cell surface expression of IL2RA/CD25 and CD69 (PubMed:17294403). Phosphorylated on a serine residue in response to costimulation through TCR/CD3 and CD2 or CD28. Serine phosphorylation promotes association with the actin cytoskeleton and targeting to peripheral cell projections. NA Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 13 +NX_P13797 Plastin-3 630 70811 5.41 0 Cytoplasm;Cytosol;Cell membrane Osteoporosis Actin-bundling protein found in intestinal microvilli, hair cell stereocilia, and fibroblast filopodia. May play a role in the regulation of bone development. NA NA NA PE1 X +NX_P13798 Acylamino-acid-releasing enzyme 732 81225 5.29 0 Cytoplasm;Cytosol NA This enzyme catalyzes the hydrolysis of the N-terminal peptide bond of an N-acetylated peptide to generate an N-acetylated amino acid and a peptide with a free N-terminus. It preferentially cleaves off Ac-Ala, Ac-Met and Ac-Ser. NA Belongs to the peptidase S9C family. Eukaryotic Translation Termination;Neutrophil degranulation PE1 3 +NX_P13804 Electron transfer flavoprotein subunit alpha, mitochondrial 333 35080 8.62 0 Mitochondrion matrix;Mitochondrion Glutaric aciduria 2A Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:27499296, PubMed:15159392, PubMed:15975918, PubMed:9334218, PubMed:10356313). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) (PubMed:9334218). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:1882842, PubMed:1430199). The N-terminus is blocked. Belongs to the ETF alpha-subunit/FixB family. Respiratory electron transport PE1 15 +NX_P13805 Troponin T, slow skeletal muscle 278 32948 5.86 0 Golgi apparatus;Nucleoplasm;Cytosol Nemaline myopathy 5 Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. NA Belongs to the troponin T family. Striated Muscle Contraction PE1 19 +NX_P13807 Glycogen [starch] synthase, muscle 737 83786 5.8 0 Cytosol;Cytoskeleton Muscle glycogen storage disease 0 Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan. Phosphorylation at Ser-8 by AMPK inactivates the enzyme activity. Primed phosphorylation at Ser-657 (site 5) by CSNK2A1 and CSNK2A2 is required for inhibitory phosphorylation at Ser-641 (site 3a), Ser-645 (site 3b), Ser-649 (site 3c) and Ser-653 (site 4) by GSK3A an GSK3B (By similarity). Phosphorylated at Ser-641 by DYRK2, leading to inactivation (By similarity). Phosphorylated at Ser-641 by PASK, leading to inactivation; phosphorylation by PASK is inhibited by glycogen. Dephosphorylation at Ser-641 and Ser-645 by PP1 activates the enzyme.;GYS1 is phosphorylated by PRKAA2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the glycosyltransferase 3 family. Glycan biosynthesis; glycogen biosynthesis.;Starch and sucrose metabolism;Insulin signaling pathway;Glycogen synthesis;Myoclonic epilepsy of Lafora;Glycogen storage disease type XV (GYG1);Glycogen storage disease type 0 (muscle GYS1) PE1 19 +NX_P13861 cAMP-dependent protein kinase type II-alpha regulatory subunit 404 45518 4.96 0 Cytoplasm;Cell membrane NA Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. Type II regulatory chains mediate membrane association by binding to anchoring proteins, including the MAP2 kinase. Phosphorylated by the activated catalytic chain.;PRKAR2A is phosphorylated by PRKACA Belongs to the cAMP-dependent kinase regulatory chain family. Apoptosis;Insulin signaling pathway;Factors involved in megakaryocyte development and platelet production;Hedgehog 'off' state;PKA activation;PKA activation in glucagon signalling;DARPP-32 events;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;CREB1 phosphorylation through the activation of Adenylate Cyclase;ROBO receptors bind AKAP5 PE1 3 +NX_P13866 Sodium/glucose cotransporter 1 664 73498 7.82 13 Membrane;Cytoplasmic vesicle;Nucleoplasm Congenital glucose/galactose malabsorption Actively transports glucose into cells by Na(+) cotransport with a Na(+) to glucose coupling ratio of 2:1. Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules. N-glycosylation is not necessary for the cotransporter function. Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. Carbohydrate digestion and absorption;Bile secretion;Mineral absorption;Cellular hexose transport;Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM);Intestinal hexose absorption PE1 22 +NX_P13928 Annexin A8 327 36881 5.56 0 NA NA This protein is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade. NA Belongs to the annexin family. NA PE1 10 +NX_P13929 Beta-enolase 434 46987 7.58 0 Cytoplasm Glycogen storage disease 13 Appears to have a function in striated muscle development and regeneration. NA Belongs to the enolase family. Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 4/5.;Glycolysis / Gluconeogenesis;Metabolic pathways;RNA degradation;Glycolysis;Gluconeogenesis PE1 17 +NX_P13942 Collagen alpha-2(XI) chain 1736 171791 5.89 0 Extracellular matrix Otospondylomegaepiphyseal dysplasia, autosomal recessive;Fibrochondrogenesis 2;Deafness, autosomal dominant, 13;Deafness, autosomal recessive, 53;Otospondylomegaepiphyseal dysplasia, autosomal dominant May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. A disulfide-bonded peptide called proline/arginine-rich protein or PARP is released from the N-terminus during extracellular processing and is subsequently retained in the cartilage matrix from which it can be isolated in significant amounts.;Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Belongs to the fibrillar collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Amoebiasis;Collagen degradation;Collagen biosynthesis and modifying enzymes;Assembly of collagen fibrils and other multimeric structures;Non-integrin membrane-ECM interactions;MET activates PTK2 signaling;Collagen chain trimerization PE1 6 +NX_P13945 Beta-3 adrenergic receptor 408 43519 9.39 7 Cell membrane NA Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. Beta-3 is involved in the regulation of lipolysis and thermogenesis. NA Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRB3 sub-subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Endocytosis;Salivary secretion;G alpha (s) signalling events;Adrenoceptors PE1 8 +NX_P13984 General transcription factor IIF subunit 2 249 28380 9.24 0 Nucleoplasm;Nucleus;Nucleolus;Cytoskeleton NA TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the initiation complex in collaboration with TFIIB. It promotes transcription elongation. This subunit shows ATP-dependent DNA-helicase activity. NA Belongs to the TFIIF beta subunit family. Basal transcription factors;Viral Messenger RNA Synthesis;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;Processing of Capped Intron-Containing Pre-mRNA;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;FGFR2 alternative splicing;RNA polymerase II transcribes snRNA genes;Signaling by FGFR2 IIIa TM;TP53 Regulates Transcription of DNA Repair Genes;Estrogen-dependent gene expression PE1 13 +NX_P13985 Putative HTLV-1-related endogenous sequence 223 24343 12.23 0 NA NA NA NA NA NA PE5 1 +NX_P13987 CD59 glycoprotein 128 14177 6.02 0 Golgi apparatus;Cytoplasmic vesicle;Secreted;Cell membrane Hemolytic anemia, CD59-mediated, with or without polyneuropathy The soluble form from urine retains its specific complement binding activity, but exhibits greatly reduced ability to inhibit MAC assembly on cell membranes.;Potent inhibitor of the complement membrane attack complex (MAC) action. Acts by binding to the C8 and/or C9 complements of the assembling MAC, thereby preventing incorporation of the multiple copies of C9 required for complete formation of the osmolytic pore. This inhibitor appears to be species-specific. Involved in signal transduction for T-cell activation complexed to a protein tyrosine kinase. Glycated. Glycation is found in diabetic subjects, but only at minimal levels in nondiabetic subjects. Glycated CD59 lacks MAC-inhibitory function and confers to vascular complications of diabetes.;N- and O-glycosylated. The N-glycosylation mainly consists of a family of biantennary complex-type structures with and without lactosamine extensions and outer arm fucose residues. Also significant amounts of triantennary complexes (22%). Variable sialylation also present in the Asn-43 oligosaccharide. The predominant O-glycans are mono-sialylated forms of the disaccharide, Gal-beta-1,3GalNAc, and their sites of attachment are probably on Thr-76 and Thr-77. The GPI-anchor of soluble urinary CD59 has no inositol-associated phospholipid, but is composed of seven different GPI-anchor variants of one or more monosaccharide units. Major variants contain sialic acid, mannose and glucosamine. Sialic acid linked to an N-acetylhexosamine-galactose arm is present in two variants. NA Complement and coagulation cascades;Hematopoietic cell lineage;Regulation of Complement cascade;COPII-mediated vesicle transport;Cargo concentration in the ER;COPI-mediated anterograde transport;Neutrophil degranulation PE1 11 +NX_P13994 Coiled-coil domain-containing protein 130 396 44802 8.47 0 Cytoplasmic vesicle NA NA NA Belongs to the CWC16 family. NA PE1 19 +NX_P13995 Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial 350 37895 8.86 0 Mitochondrion NA Although its dehydrogenase activity is NAD-specific, it can also utilize NADP at a reduced efficiency. NA Belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family. One carbon pool by folate;Metabolic pathways;Metabolism of folate and pterines PE1 2 +NX_P14060 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 373 42252 8.86 1 Mitochondrion membrane;Endoplasmic reticulum membrane NA A bifunctional enzyme responsible for the oxidation and isomerization of 3beta-hydroxy-Delta(5)-steroid precursors to 3-oxo-Delta(4)-steroids, an essential step in steroid hormone biosynthesis. Specifically catalyzes the conversion of pregnenolone to progesterone, 17alpha-hydroxypregnenolone to 17alpha-hydroxyprogesterone, dehydroepiandrosterone (DHEA) to 4-androstenedione, and androstenediol to testosterone. Additionally, catalyzes the interconversion between 3beta-hydroxy and 3-oxo-5alpha-androstane steroids controlling the bioavalability of the active forms. Specifically converts dihydrotestosterone to its inactive form 5alpha-androstanediol, that does not bind androgen receptor/AR. Also converts androstanedione, a precursor of testosterone and estrone, to epiandrosterone (PubMed:1401999, PubMed:2139411). Expected to use NAD(+) as preferred electron donor for the 3beta-hydroxy-steroid dehydrogenase activity and NADPH for the 3-ketosteroid reductase activity (Probable). NA Belongs to the 3-beta-HSD family. Steroid metabolism.;Steroid hormone biosynthesis.;Steroid hormone biosynthesis;Metabolic pathways;Glucocorticoid biosynthesis;Androgen biosynthesis;Mineralocorticoid biosynthesis PE1 1 +NX_P14061 Estradiol 17-beta-dehydrogenase 1 328 34950 5.46 0 Cytoplasm;Cytosol NA Favors the reduction of estrogens and androgens. Also has 20-alpha-HSD activity. Uses preferentially NADH. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Steroid biosynthesis; estrogen biosynthesis.;Steroid hormone biosynthesis;Metabolic pathways;The canonical retinoid cycle in rods (twilight vision);Estrogen biosynthesis PE1 17 +NX_P14091 Cathepsin E 396 42794 4.69 0 Endosome NA May have a role in immune function. Probably involved in the processing of antigenic peptides during MHC class II-mediated antigen presentation. May play a role in activation-induced lymphocyte depletion in the thymus, and in neuronal degeneration and glial cell activation in the brain. Two forms are produced by autocatalytic cleavage, form I begins at Ile-54, form II begins at Thr-57.;Glycosylated. The nature of the carbohydrate chain varies between cell types. In fibroblasts, the proenzyme contains a high mannose-type oligosaccharide, while the mature enzyme contains a complex-type oligosaccharide. In erythrocyte membranes, both the proenzyme and mature enzyme contain a complex-type oligosaccharide. Belongs to the peptidase A1 family. Lysosome;MHC class II antigen presentation PE1 1 +NX_P14136 Glial fibrillary acidic protein 432 49880 5.42 0 Cytoplasm;Cytoskeleton Alexander disease GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells. Phosphorylated by PKN1.;GFAP is phosphorylated by PKN1 Belongs to the intermediate filament family. Nuclear signaling by ERBB4;Chaperone Mediated Autophagy PE1 17 +NX_P14138 Endothelin-3 238 25454 6.24 0 Secreted Hirschsprung disease 4;Waardenburg syndrome 4B;Congenital central hypoventilation syndrome Endothelins are endothelium-derived vasoconstrictor peptides. NA Belongs to the endothelin/sarafotoxin family. Peptide ligand-binding receptors;G alpha (q) signalling events PE1 20 +NX_P14151 L-selectin 372 42187 6.2 1 Cytosol;Cell membrane NA Calcium-dependent lectin that mediates cell adhesion by binding to glycoproteins on neighboring cells (PubMed:12403782, PubMed:28489325, PubMed:28011641). Mediates the adherence of lymphocytes to endothelial cells of high endothelial venules in peripheral lymph nodes. Promotes initial tethering and rolling of leukocytes in endothelia (PubMed:12403782, PubMed:28011641). N-glycosylated. Belongs to the selectin/LECAM family. Cell adhesion molecules (CAMs);Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Cell surface interactions at the vascular wall;Neutrophil degranulation PE1 1 +NX_P14174 Macrophage migration inhibitory factor 115 12476 7.73 0 Nucleoplasm;Cytosol;Cytoplasm;Secreted Rheumatoid arthritis systemic juvenile Pro-inflammatory cytokine. Involved in the innate immune response to bacterial pathogens. The expression of MIF at sites of inflammation suggests a role as mediator in regulating the function of macrophages in host defense. Counteracts the anti-inflammatory activity of glucocorticoids. Has phenylpyruvate tautomerase and dopachrome tautomerase activity (in vitro), but the physiological substrate is not known. It is not clear whether the tautomerase activity has any physiological relevance, and whether it is important for cytokine activity. NA Belongs to the MIF family. Tyrosine metabolism;Phenylalanine metabolism;Cell surface interactions at the vascular wall;Neutrophil degranulation;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 22 +NX_P14207 Folate receptor beta 255 29280 7.5 0 Secreted;Cell membrane NA Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release. N-glycosylated. Belongs to the folate receptor family. Endocytosis;Metabolism of folate and pterines;Post-translational modification: synthesis of GPI-anchored proteins PE1 11 +NX_P14209 CD99 antigen 185 18848 4.58 1 Membrane;Golgi apparatus NA Involved in T-cell adhesion processes and in spontaneous rosette formation with erythrocytes. Plays a role in a late step of leukocyte extravasation helping leukocytes to overcome the endothelial basement membrane. Acts at the same site as, but independently of, PECAM1. Involved in T-cell adhesion processes (By similarity). Extensively O-glycosylated. Belongs to the CD99 family. Cell adhesion molecules (CAMs);Leukocyte transendothelial migration;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Cell surface interactions at the vascular wall PE1 X +NX_P14210 Hepatocyte growth factor 728 83134 8.22 0 Cytosol;Centrosome Deafness, autosomal recessive, 39 Potent mitogen for mature parenchymal hepatocyte cells, seems to be a hepatotrophic factor, and acts as a growth factor for a broad spectrum of tissues and cell types. Activating ligand for the receptor tyrosine kinase MET by binding to it and promoting its dimerization. NA Belongs to the peptidase S1 family. Plasminogen subfamily. Cytokine-cytokine receptor interaction;Focal adhesion;Malaria;Pathways in cancer;Renal cell carcinoma;Melanoma;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Interleukin-7 signaling;Platelet degranulation;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of MET activity;MET activates PTK2 signaling;MET interacts with TNS proteins;MET activates RAS signaling;MET activates RAP1 and RAC1;MET activates PI3K/AKT signaling;MET activates PTPN11;MET receptor recycling;MET Receptor Activation;MET activates STAT3;Interleukin-4 and Interleukin-13 signaling PE1 7 +NX_P14222 Perforin-1 555 61377 8.04 0 Cell membrane;Cytoplasmic granule lumen;Secreted;Endosome lumen;Cytosol Familial hemophagocytic lymphohistiocytosis 2 Plays a key role in secretory granule-dependent cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognized as non-self by the immune system, e.g. In transplant rejection or some forms of autoimmune disease. Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores. Promotes cytolysis and apoptosis of target cells by facilitating the uptake of cytotoxic granzymes. N-glycosylated. Belongs to the complement C6/C7/C8/C9 family. Natural killer cell mediated cytotoxicity;Type I diabetes mellitus;Autoimmune thyroid disease;Allograft rejection;Graft-versus-host disease;Viral myocarditis PE1 10 +NX_P14314 Glucosidase 2 subunit beta 528 59425 4.33 0 Endoplasmic reticulum Polycystic liver disease 1 with or without kidney cysts Regulatory subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity). NA NA Glycan metabolism; N-glycan metabolism.;Protein processing in endoplasmic reticulum;Advanced glycosylation endproduct receptor signaling;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);N-glycan trimming in the ER and Calnexin/Calreticulin cycle;Calnexin/calreticulin cycle;Post-translational protein phosphorylation PE1 19 +NX_P14316 Interferon regulatory factor 2 349 39354 7.07 0 Nucleoplasm;Cytosol;Cell junction;Nucleus NA Specifically binds to the upstream regulatory region of type I IFN and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)) and represses those genes. Also acts as an activator for several genes including H4 and IL7. Constitutively binds to the ISRE promoter to activate IL7. Involved in cell cycle regulation through binding the site II (HiNF-M) promoter region of H4 and activating transcription during cell growth. Antagonizes IRF1 transcriptional activation. The major sites of sumoylation are Lys-137 and Lys-293. Sumoylation with SUMO1 increases its transcriptional repressor activity on IRF1 and diminishes its ability to activate ISRE and H4 promoter.;Acetylated by CBP/ p300 during cell-growth. Acetylation on Lys-75 is required for stimulation of H4 promoter activity. Belongs to the IRF family. Factors involved in megakaryocyte development and platelet production;Interferon gamma signaling;Interferon alpha/beta signaling PE1 4 +NX_P14317 Hematopoietic lineage cell-specific protein 486 54014 4.74 0 Cytoplasm;Mitochondrion;Cell membrane;Membrane;Cytosol NA Substrate of the antigen receptor-coupled tyrosine kinase. Plays a role in antigen receptor signaling for both clonal expansion and deletion in lymphoid cells. May also be involved in the regulation of gene expression. Phosphorylated by FES (By similarity). Phosphorylated by LYN, FYN and FGR after cross-linking of surface IgM on B-cells. Phosphorylation by LYN, FYN and FGR requires prior phosphorylation by SYK or FES. NA Tight junction;Bacterial invasion of epithelial cells;Pathogenic Escherichia coli infection;Shigellosis PE1 3 +NX_P14324 Farnesyl pyrophosphate synthase 419 48275 5.83 0 Nucleoplasm;Cytosol;Cytoplasm Porokeratosis 9, multiple types Key enzyme in isoprenoid biosynthesis which catalyzes the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites including sterols, dolichols, carotenoids, and ubiquinones. FPP also serves as substrate for protein farnesylation and geranylgeranylation. Catalyzes the sequential condensation of isopentenyl pyrophosphate with the allylic pyrophosphates, dimethylallyl pyrophosphate, and then with the resultant geranylpyrophosphate to the ultimate product farnesyl pyrophosphate. NA Belongs to the FPP/GGPP synthase family. Isoprenoid biosynthesis; geranyl diphosphate biosynthesis; geranyl diphosphate from dimethylallyl diphosphate and isopentenyl diphosphate: step 1/1.;Isoprenoid biosynthesis; farnesyl diphosphate biosynthesis; farnesyl diphosphate from geranyl diphosphate and isopentenyl diphosphate: step 1/1.;Terpenoid backbone biosynthesis;Metabolic pathways;Influenza A;HTLV-I infection;Cholesterol biosynthesis;Activation of gene expression by SREBF (SREBP) PE1 1 +NX_P14373 Zinc finger protein RFP 513 58490 5.83 0 Cytoplasm;Early endosome;Nucleolus;Nucleoplasm;PML body;Nucleus NA E3 ubiquitin-protein ligase that mediates ubiquitination of PIK3C2B and inhibits its activity; mediates the formation of 'Lys-48'-linked polyubiquitin chains; the function inhibits CD4 T-cell activation. Acts as a regulator of retrograde transport: together with MAGEL2, mediates the formation of 'Lys-63'-linked polyubiquitin chains at 'Lys-220' of WASHC1, leading to promote endosomal F-actin assembly (PubMed:23452853). Has a transcriptional repressor activity by cooperating with EPC1. Induces apoptosis by activating Jun N-terminal kinase and p38 kinase and also increases caspase-3-like activity independently of mitochondrial events. May function in male germ cell development. Has DNA-binding activity and preferentially bound to double-stranded DNA. NA Belongs to the TRIM/RBCC family. Regulation of PTEN stability and activity;SUMOylation of ubiquitinylation proteins PE1 6 +NX_P14384 Carboxypeptidase M 443 50514 6.94 0 Cytoplasmic vesicle;Cell membrane NA Specifically removes C-terminal basic residues (Arg or Lys) from peptides and proteins. It is believed to play important roles in the control of peptide hormone and growth factor activity at the cell surface, and in the membrane-localized degradation of extracellular proteins. NA Belongs to the peptidase M14 family. Post-translational modification: synthesis of GPI-anchored proteins PE1 12 +NX_P14406 Cytochrome c oxidase subunit 7A2, mitochondrial 83 9396 9.75 0 Mitochondrion inner membrane;Mitochondrion;Cell membrane NA This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. NA Belongs to the cytochrome c oxidase VIIa family. Oxidative phosphorylation;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease PE1 6 +NX_P14410 Sucrase-isomaltase, intestinal 1827 209453 5.38 1 Apical cell membrane Congenital sucrase-isomaltase deficiency Plays an important role in the final stage of carbohydrate digestion. Isomaltase activity is specific for both alpha-1,4- and alpha-1,6-oligosaccharides. Sulfated.;The precursor is proteolytically cleaved when exposed to pancreatic proteases in the intestinal lumen. Belongs to the glycosyl hydrolase 31 family. Galactose metabolism;Starch and sucrose metabolism;Metabolic pathways;Carbohydrate digestion and absorption;Digestion of dietary carbohydrate;Intestinal saccharidase deficiencies PE1 3 +NX_P14415 Sodium/potassium-transporting ATPase subunit beta-2 290 33367 8.57 1 Cell membrane NA Mediates cell adhesion of neurons and astrocytes, and promotes neurite outgrowth.;This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is not known. NA Belongs to the X(+)/potassium ATPases subunit beta family. Cardiac muscle contraction;Aldosterone-regulated sodium reabsorption;Endocrine and other factor-regulated calcium reabsorption;Proximal tubule bicarbonate reclamation;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Carbohydrate digestion and absorption;Protein digestion and absorption;Bile secretion;Mineral absorption;Ion transport by P-type ATPases;Basigin interactions;Ion homeostasis PE1 17 +NX_P14416 D(2) dopamine receptor 443 50619 9.55 7 Cell membrane NA Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Gap junction;Dopaminergic synapse;G alpha (i) signalling events;Dopamine receptors PE1 11 +NX_P14543 Nidogen-1 1247 136377 5.12 0 Basement membrane NA Sulfated glycoprotein widely distributed in basement membranes and tightly associated with laminin. Also binds to collagen IV and perlecan. It probably has a role in cell-extracellular matrix interactions. N- and O-glycosylated. NA Degradation of the extracellular matrix;Laminin interactions PE1 1 +NX_P14550 Aldo-keto reductase family 1 member A1 325 36573 6.32 0 Nucleoplasm;Apical cell membrane;Cytosol NA Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols. Displays enzymatic activity towards endogenous metabolites such as aromatic and aliphatic aldehydes, ketones, monosaccharides and bile acids, with a preference for negatively charged substrates, such as glucuronate and succinic semialdehyde (PubMed:10510318). Functions as a detoxifiying enzyme by reducing a range of toxic aldehydes. Reduces methylglyoxal and 3-deoxyglucosone, which are present at elevated levels under hyperglycemic conditions and are cytotoxic. Involved also in the detoxification of lipid-derived aldehydes like acrolein (By similarity). Plays a role in the activation of procarcinogens, such as polycyclic aromatic hydrocarbon trans-dihydrodiols, and in the metabolism of various xenobiotics and drugs, including the anthracyclines doxorubicin (DOX) and daunorubicin (DAUN) (PubMed:18276838, PubMed:11306097). Displays no reductase activity towards retinoids (By similarity). NA Belongs to the aldo/keto reductase family. Glycolysis / Gluconeogenesis;Glycerolipid metabolism;Metabolic pathways;Glutathione conjugation;Formation of xylulose-5-phosphate PE1 1 +NX_P14555 Phospholipase A2, membrane associated 144 16083 9.44 0 Endoplasmic reticulum;Secreted;Cell membrane NA Catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides (PubMed:2925633). Thought to participate in the regulation of phospholipid metabolism in biomembranes including eicosanoid biosynthesis. Independent of its catalytic activity, acts as a ligand for integrins (PubMed:18635536, PubMed:25398877). Binds to and activates integrins ITGAV:ITGB3, ITGA4:ITGB1 and ITGA5:ITGB1 (PubMed:18635536, PubMed:25398877). Binds to a site (site 2) which is distinct from the classical ligand-binding site (site 1) and induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:25398877). Induces cell proliferation in an integrin-dependent manner (PubMed:18635536). NA Belongs to the phospholipase A2 family. Glycerophospholipid metabolism;Ether lipid metabolism;Arachidonic acid metabolism;Linoleic acid metabolism;alpha-Linolenic acid metabolism;Metabolic pathways;MAPK signaling pathway;Vascular smooth muscle contraction;VEGF signaling pathway;Fc epsilon RI signaling pathway;Glutamatergic synapse;Long-term depression;GnRH signaling pathway;Pancreatic secretion;Fat digestion and absorption;Toxoplasmosis;Synthesis of PA;Acyl chain remodelling of PG;Acyl chain remodelling of PC;Acyl chain remodelling of PS;Acyl chain remodelling of PE;Acyl chain remodelling of PI;Antimicrobial peptides PE1 1 +NX_P14598 Neutrophil cytosol factor 1 390 44682 9.2 0 Membrane;Cytosol Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production). Phosphorylated by PRKCD; phosphorylation induces activation of NCF1 and NADPH oxidase activity.;NCF1 is phosphorylated by PRKCZ (Phosphoserine:PTM-0253) NA Chemokine signaling pathway;Phagosome;Osteoclast differentiation;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Leishmaniasis;Detoxification of Reactive Oxygen Species;VEGFA-VEGFR2 Pathway;ROS and RNS production in phagocytes;Cross-presentation of particulate exogenous antigens (phagosomes);RHO GTPases Activate NADPH Oxidases PE1 7 +NX_P14616 Insulin receptor-related protein 1297 143720 6.03 1 Membrane NA Receptor with tyrosine-protein kinase activity. Functions as a pH sensing receptor which is activated by increased extracellular pH. Activates an intracellular signaling pathway that involves IRS1 and AKT1/PKB. Autophosphorylated on tyrosine residues between pH 7.9 and pH 10.5.;Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. Regulation of actin cytoskeleton;Prostate cancer PE1 1 +NX_P14618 Pyruvate kinase PKM 531 57937 7.96 0 Cytoplasm;Cytosol;Nucleus NA Glycolytic enzyme that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate (PEP) to ADP, generating ATP. Stimulates POU5F1-mediated transcriptional activation. Plays a general role in caspase independent cell death of tumor cells. The ratio between the highly active tetrameric form and nearly inactive dimeric form determines whether glucose carbons are channeled to biosynthetic processes or used for glycolytic ATP production. The transition between the 2 forms contributes to the control of glycolysis and is important for tumor cell proliferation and survival (PubMed:17308100, PubMed:18191611, PubMed:21620138). Promotes in a STAT1-dependent manner, the expression of the immune checkpoint protein CD274 in ARNTL/BMAL1-deficient macrophages (By similarity). ISGylated.;FGFR1-dependent tyrosine phosphorylation is reduced by interaction with TRIM35.;Under hypoxia, hydroxylated by EGLN3.;Acetylation at Lys-305 is stimulated by high glucose concentration, it decreases enzyme activity and promotes its lysosomal-dependent degradation via chaperone-mediated autophagy. Belongs to the pyruvate kinase family. Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 5/5.;Glycolysis / Gluconeogenesis;Purine metabolism;Pyruvate metabolism;Metabolic pathways;Type II diabetes mellitus;Glycolysis;Neutrophil degranulation PE1 15 +NX_P14621 Acylphosphatase-2 99 11140 9.52 0 Nucleoplasm;Cytoplasm NA Its physiological role is not yet clear. NA Belongs to the acylphosphatase family. Pyruvate metabolism PE1 2 +NX_P14625 Endoplasmin 803 92469 4.76 0 Endoplasmic reticulum;Endoplasmic reticulum lumen;Melanosome;Sarcoplasmic reticulum lumen NA Molecular chaperone that functions in the processing and transport of secreted proteins (By similarity). When associated with CNPY3, required for proper folding of Toll-like receptors (By similarity). Functions in endoplasmic reticulum associated degradation (ERAD) (PubMed:18264092). Has ATPase activity (By similarity). NA Belongs to the heat shock protein 90 family. Protein processing in endoplasmic reticulum;NOD-like receptor signaling pathway;Pathways in cancer;Prostate cancer;Trafficking and processing of endosomal TLR;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Scavenging by Class A Receptors;ATF6 (ATF6-alpha) activates chaperone genes;Interleukin-4 and Interleukin-13 signaling;Post-translational protein phosphorylation PE1 12 +NX_P14635 G2/mitotic-specific cyclin-B1 433 48337 7.09 0 Cytoplasm;Cytosol;Centrosome;Nucleus NA Essential for the control of the cell cycle at the G2/M (mitosis) transition. Phosphorylated by PLK1 at Ser-133 on centrosomes during prophase: phosphorylation by PLK1 does not cause nuclear import. Phosphorylation at Ser-147 was also reported to be mediated by PLK1 but Ser-133 seems to be the primary phosphorylation site.;Ubiquitinated by the SCF(NIPA) complex during interphase, leading to its destruction. Not ubiquitinated during G2/M phases. Belongs to the cyclin family. Cyclin AB subfamily. Cell cycle;Oocyte meiosis;p53 signaling pathway;Progesterone-mediated oocyte maturation;Nuclear Pore Complex (NPC) Disassembly;Activation of NIMA Kinases NEK9, NEK6, NEK7;Regulation of PLK1 Activity at G2/M Transition;Resolution of Sister Chromatid Cohesion;Condensation of Prophase Chromosomes;Polo-like kinase mediated events;Cyclin A/B1/B2 associated events during G2/M transition;G2/M DNA replication checkpoint;MASTL Facilitates Mitotic Progression;APC/C:Cdc20 mediated degradation of Cyclin B;Regulation of APC/C activators between G1/S and early anaphase;Phosphorylation of the APC/C;E2F-enabled inhibition of pre-replication complex formation;Phosphorylation of Emi1;Golgi Cisternae Pericentriolar Stack Reorganization;Condensation of Prometaphase Chromosomes;Depolymerisation of the Nuclear Lamina;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;The role of GTSE1 in G2/M progression after G2 checkpoint;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;Transcriptional regulation by RUNX2;Mitotic Prophase PE1 5 +NX_P14649 Myosin light chain 6B 208 22764 5.56 0 Cytoplasmic vesicle NA Regulatory light chain of myosin. Does not bind calcium. NA NA Vascular smooth muscle contraction;Smooth Muscle Contraction PE1 12 +NX_P14651 Homeobox protein Hox-B3 431 44340 9.27 0 Nucleoplasm;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 17 +NX_P14652 Homeobox protein Hox-B2 356 37914 5.03 0 Nucleoplasm;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. Proboscipedia subfamily. Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 17 +NX_P14653 Homeobox protein Hox-B1 301 32193 6.45 0 Nucleus Facial paresis, hereditary congenital, 3 Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. NA Belongs to the Antp homeobox family. Labial subfamily. Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 17 +NX_P14672 Solute carrier family 2, facilitated glucose transporter member 4 509 54787 6.48 12 Endomembrane system;Perinuclear region;Cell membrane Diabetes mellitus, non-insulin-dependent Insulin-regulated facilitative glucose transporter, which plays a key role in removal of glucose from circulation. Response to insulin is regulated by its intracellular localization: in the absence of insulin, it is efficiently retained intracellularly within storage compartments in muscle and fat cells. Upon insulin stimulation, translocates from these compartments to the cell surface where it transports glucose from the extracellular milieu into the cell. Sumoylated. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. Insulin signaling pathway;Adipocytokine signaling pathway;Type II diabetes mellitus;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Transcriptional regulation of white adipocyte differentiation;Cellular hexose transport PE1 17 +NX_P14678 Small nuclear ribonucleoprotein-associated proteins B and B' 240 24610 11.2 0 Cytosol;Nucleus Cerebrocostomandibular syndrome Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077). As part of the U7 snRNP it is involved in histone pre-mRNA 3'-end processing (PubMed:12975319). Methylated. Arg-108 and Arg-112 are dimethylated, probably to asymmetric dimethylarginine. Belongs to the snRNP SmB/SmN family. Spliceosome;Systemic lupus erythematosus;snRNP Assembly;SLBP independent Processing of Histone Pre-mRNAs;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 20 +NX_P14679 Tyrosinase 529 60393 5.71 1 Cytoplasmic vesicle;Melanosome;Melanosome membrane Albinism, oculocutaneous, 1B;Albinism, oculocutaneous, 1A This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine. In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone. Glycosylated. Belongs to the tyrosinase family. Tyrosine metabolism;Riboflavin metabolism;Metabolic pathways;Melanogenesis;Melanin biosynthesis PE1 11 +NX_P14735 Insulin-degrading enzyme 1019 117968 6.16 0 Cytosol;Secreted;Cell membrane NA (Microbial infection) The membrane-associated isoform acts as an entry receptor for varicella-zoster virus (VZV).;Plays a role in the cellular breakdown of insulin, APP peptides, IAPP peptides, glucagon, bradykinin, kallidin and other peptides, and thereby plays a role in intercellular peptide signaling (PubMed:2293021, PubMed:10684867, PubMed:26968463, PubMed:17051221, PubMed:17613531, PubMed:18986166, PubMed:19321446, PubMed:23922390, PubMed:24847884, PubMed:26394692, PubMed:29596046). Substrate binding induces important conformation changes, making it possible to bind and degrade larger substrates, such as insulin (PubMed:23922390, PubMed:26394692, PubMed:29596046). Contributes to the regulation of peptide hormone signaling cascades and regulation of blood glucose homeostasis via its role in the degradation of insulin, glucagon and IAPP (By similarity). Plays a role in the degradation and clearance of APP-derived amyloidogenic peptides that are secreted by neurons and microglia (PubMed:9830016, PubMed:26394692) (Probable). Involved in antigen processing. Produces both the N terminus and the C terminus of MAGEA3-derived antigenic peptide (EVDPIGHLY) that is presented to cytotoxic T lymphocytes by MHC class I. The N-terminus is blocked. Belongs to the peptidase M16 family. Alzheimer's disease;Ub-specific processing proteases;Peroxisomal protein import PE1 10 +NX_P14770 Platelet glycoprotein IX 177 19046 5.89 1 Membrane Bernard-Soulier syndrome The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. GP-IX may provide for membrane insertion and orientation of GP-Ib. NA NA ECM-receptor interaction;Hematopoietic cell lineage;Platelet Adhesion to exposed collagen;Intrinsic Pathway of Fibrin Clot Formation;GP1b-IX-V activation signalling;Platelet Aggregation (Plug Formation) PE1 3 +NX_P14778 Interleukin-1 receptor type 1 569 65402 8 1 Cell membrane;Secreted;Membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA Receptor for IL1A, IL1B and IL1RN. After binding to interleukin-1 associates with the coreceptor IL1RAP to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B, MAPK and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Binds ligands with comparable affinity and binding of antagonist IL1RN prevents association with IL1RAP to form a signaling complex. Involved in IL1B-mediated costimulation of IFNG production from T-helper 1 (Th1) cells (PubMed:10653850). A soluble form (sIL1R1) is probably produced by proteolytic cleavage at the cell surface (shedding).;Rapidly phosphorylated on Tyr-496 in response to IL-1, which creates a SH2 binding site for the PI 3-kinase regulatory subunit PIK3R1. Belongs to the interleukin-1 receptor family. MAPK signaling pathway;Cytokine-cytokine receptor interaction;Apoptosis;Osteoclast differentiation;Hematopoietic cell lineage;Amoebiasis;HTLV-I infection;Interleukin-10 signaling;Interleukin-1 signaling PE1 2 +NX_P14780 Matrix metalloproteinase-9 707 78458 5.69 0 Cytosol;Extracellular matrix Intervertebral disc disease;Metaphyseal anadysplasia 2 May play an essential role in local proteolysis of the extracellular matrix and in leukocyte migration. Could play a role in bone osteoclastic resorption. Cleaves KiSS1 at a Gly-|-Leu bond. Cleaves type IV and type V collagen into large C-terminal three quarter fragments and shorter N-terminal one quarter fragments. Degrades fibronectin but not laminin or Pz-peptide. N- and O-glycosylated.;Processing of the precursor yields different active forms of 64, 67 and 82 kDa. Sequentially processing by MMP3 yields the 82 kDa matrix metalloproteinase-9. Belongs to the peptidase M10A family. Leukocyte transendothelial migration;Pathways in cancer;Bladder cancer;Degradation of the extracellular matrix;EPH-ephrin mediated repulsion of cells;Collagen degradation;Signaling by SCF-KIT;Assembly of collagen fibrils and other multimeric structures;Activation of Matrix Metalloproteinases;Neutrophil degranulation;Interleukin-4 and Interleukin-13 signaling;Extra-nuclear estrogen signaling PE1 20 +NX_P14784 Interleukin-2 receptor subunit beta 551 61117 4.93 1 Cell surface;Cell membrane NA Receptor for interleukin-2. This beta subunit is involved in receptor mediated endocytosis and transduces the mitogenic signals of IL2. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770). NA Belongs to the type I cytokine receptor family. Type 4 subfamily. Cytokine-cytokine receptor interaction;Endocytosis;Jak-STAT signaling pathway;Measles;HTLV-I infection;RAF/MAP kinase cascade;Interleukin receptor SHC signaling;Interleukin-15 signaling;Interleukin-2 signaling PE1 22 +NX_P14854 Cytochrome c oxidase subunit 6B1 86 10192 6.54 0 Mitochondrion intermembrane space;Mitochondrion Mitochondrial complex IV deficiency Connects the two COX monomers into the physiological dimeric form. NA Belongs to the cytochrome c oxidase subunit 6B family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 19 +NX_P14859 POU domain, class 2, transcription factor 1 743 76472 6.34 0 Endoplasmic reticulum;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3') and activates the promoters of the genes for some small nuclear RNAs (snRNA) and of genes such as those for histone H2B and immunoglobulins. Modulates transcription transactivation by NR3C1, AR and PGR (By similarity). In case of human herpes simplex virus (HSV) infection, POU2F1 forms a multiprotein-DNA complex with the viral transactivator protein VP16 and HCFC1 thereby enabling the transcription of the viral immediate early genes. Phosphorylated by PRKDC. Belongs to the POU transcription factor family. Class-2 subfamily. RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 3 Promoter;RNA polymerase II transcribes snRNA genes;Interleukin-4 and Interleukin-13 signaling;Estrogen-dependent gene expression PE1 1 +NX_P14866 Heterogeneous nuclear ribonucleoprotein L 589 64133 8.46 0 Nucleoplasm;Cytoplasm;Nucleus NA Splicing factor binding to exonic or intronic sites and acting as either an activator or repressor of exon inclusion. Exhibits a binding preference for CA-rich elements (PubMed:11809897, PubMed:22570490, PubMed:24164894, PubMed:25623890, PubMed:26051023). Component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes and associated with most nascent transcripts (PubMed:2687284). Associates, together with APEX1, to the negative calcium responsive element (nCaRE) B2 of the APEX2 promoter (PubMed:11809897). Several isoelectric forms of the L protein are probably the results of post-translational modifications.;Phosphorylation at Ser-544 by CaMK4 enhances interaction with a CaMK4-responsive RNA element (CaRRE1), and prevents inclusion of the stress axis-regulated exon (STREX) of the KCNMA1 potassium channel transcripts upon membrane depolarization. NA mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA PE1 19 +NX_P14867 Gamma-aminobutyric acid receptor subunit alpha-1 456 51802 9.27 4 Cytoplasmic vesicle membrane;Cell membrane;Postsynaptic cell membrane Epileptic encephalopathy, early infantile, 19;Juvenile myoclonic epilepsy 5;Epilepsy, childhood absence 4;Epilepsy, idiopathic generalized 13 Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:23909897, PubMed:25489750, PubMed:29950725). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:23909897, PubMed:25489750). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha1/beta2/gamma2 receptor and the alpha1/beta3/gamma2 receptor exhibit synaptogenic activity (PubMed:23909897, PubMed:25489750). GABRA1-mediated plasticity in the orbitofrontal cortex regulates context-dependent action selection (By similarity). Functions also as histamine receptor and mediates cellular responses to histamine (By similarity). Glycosylated. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA1 sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse;Signaling by ERBB4;GABA receptor activation PE1 5 +NX_P14868 Aspartate--tRNA ligase, cytoplasmic 501 57136 6.11 0 Cytosol Hypomyelination with brainstem and spinal cord involvement and leg spasticity Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. NA Belongs to the class-II aminoacyl-tRNA synthetase family. Type 2 subfamily. Aminoacyl-tRNA biosynthesis;Cytosolic tRNA aminoacylation;Selenoamino acid metabolism PE1 2 +NX_P14902 Indoleamine 2,3-dioxygenase 1 403 45326 6.87 0 Nucleoplasm;Cytosol;Mitochondrion;Cytoplasmic vesicle NA Catalyzes the first and rate limiting step of the catabolism of the essential amino acid tryptophan along the kynurenine pathway (PubMed:17671174). Involved in the peripheral immune tolerance, contributing to maintain homeostasis by preventing autoimmunity or immunopathology that would result from uncontrolled and overreacting immune responses (PubMed:25691885). Tryptophan shortage inhibits T lymphocytes division and accumulation of tryptophan catabolites induces T-cell apoptosis and differentiation of regulatory T-cells (PubMed:25691885). Acts as a suppressor of anti-tumor immunity (PubMed:23103127, PubMed:25157255, PubMed:14502282, PubMed:25691885). Limits the growth of intracellular pathogens by depriving tryptophan (PubMed:25691885). Protects the fetus from maternal immune rejection (PubMed:25691885). NA Belongs to the indoleamine 2,3-dioxygenase family. Amino-acid degradation; L-tryptophan degradation via kynurenine pathway; L-kynurenine from L-tryptophan: step 1/2.;Tryptophan metabolism;Metabolic pathways;African trypanosomiasis;Tryptophan catabolism PE1 8 +NX_P14920 D-amino-acid oxidase 347 39474 6.36 0 Peroxisome Schizophrenia Regulates the level of the neuromodulator D-serine in the brain. Has high activity towards D-DOPA and contributes to dopamine synthesis. Could act as a detoxifying agent which removes D-amino acids accumulated during aging. Acts on a variety of D-amino acids with a preference for those having small hydrophobic side chains followed by those bearing polar, aromatic, and basic groups. Does not act on acidic amino acids. NA Belongs to the DAMOX/DASOX family. Glycine, serine and threonine metabolism;Arginine and proline metabolism;D-Arginine and D-ornithine metabolism;Metabolic pathways;Peroxisome;Glyoxylate metabolism and glycine degradation;Peroxisomal protein import PE1 12 +NX_P14921 Protein C-ets-1 441 50408 5.04 0 Nucleoplasm;Cytoplasm;Nucleus NA Transcription factor. Directly controls the expression of cytokine and chemokine genes in a wide variety of different cellular contexts. May control the differentiation, survival and proliferation of lymphoid cells. May also regulate angiogenesis through regulation of expression of genes controlling endothelial cell migration and invasion. Ubiquitinated; which induces proteasomal degradation.;Sumoylated on Lys-15 and Lys-227, preferentially with SUMO2; which inhibits transcriptional activity. Belongs to the ETS family. Dorso-ventral axis formation;HTLV-I infection;Pathways in cancer;Renal cell carcinoma;Oncogene Induced Senescence PE1 11 +NX_P14923 Junction plakoglobin 745 81745 5.75 0 Desmosome;Cell membrane;Adherens junction;Cell junction;Membrane;Cytoplasmic vesicle;Cytoskeleton Arrhythmogenic right ventricular dysplasia, familial, 12;Naxos disease Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By similarity). May be phosphorylated by FER.;JUP is phosphorylated by EGFR (Phosphotyrosine:PTM-0255) Belongs to the beta-catenin family. Pathways in cancer;Acute myeloid leukemia;Arrhythmogenic right ventricular cardiomyopathy (ARVC);VEGFR2 mediated vascular permeability;Adherens junctions interactions;Neutrophil degranulation;Formation of the cornified envelope;Keratinization PE1 17 +NX_P14927 Cytochrome b-c1 complex subunit 7 111 13530 8.73 0 Cytoplasm;Mitochondrion inner membrane;Mitochondrion;Nucleus Mitochondrial complex III deficiency, nuclear 3 This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This component is involved in redox-linked proton pumping. NA Belongs to the UQCRB/QCR7 family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport PE1 8 +NX_P15018 Leukemia inhibitory factor 202 22008 9.44 0 Cytosol;Secreted NA LIF has the capacity to induce terminal differentiation in leukemic cells. Its activities include the induction of hematopoietic differentiation in normal and myeloid leukemia cells, the induction of neuronal cell differentiation, and the stimulation of acute-phase protein synthesis in hepatocytes. NA Belongs to the LIF/OSM family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;IL-6-type cytokine receptor ligand interactions;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling PE1 22 +NX_P15036 Protein C-ets-2 469 53001 4.93 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA Transcription factor activating transcription. Binds specifically the DNA GGAA/T core motif (Ets-binding site or EBS) in gene promoters and stimulates transcription. Phosphorylation by CDK10 at Ser-220 and Ser-225 creates a phosphodegron that targets ETS2 for proteasomal degradation. Belongs to the ETS family. Dorso-ventral axis formation;HTLV-I infection;Oncogene Induced Senescence PE1 21 +NX_P15056 Serine/threonine-protein kinase B-raf 766 84437 7.29 0 Cytoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol;Nucleus LEOPARD syndrome 3;Cardiofaciocutaneous syndrome 1;Lung cancer;Noonan syndrome 7;Familial non-Hodgkin lymphoma;Colorectal cancer Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway (PubMed:21441910, PubMed:29433126). May play a role in the postsynaptic responses of hippocampal neurons (PubMed:1508179). Methylation at Arg-671 decreases stability and kinase activity.;Ubiquitinated by RNF149; which leads to proteasomal degradation. Polyubiquitinated at Lys-578 in response to EGF.;Phosphorylation at Ser-365 by SGK1 inhibits its activity. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily. MAPK signaling pathway;ErbB signaling pathway;Chemokine signaling pathway;mTOR signaling pathway;Vascular smooth muscle contraction;Focal adhesion;Natural killer cell mediated cytotoxicity;Long-term potentiation;Neurotrophin signaling pathway;Long-term depression;Regulation of actin cytoskeleton;Insulin signaling pathway;Progesterone-mediated oocyte maturation;Hepatitis C;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Negative regulation of MAPK pathway;Signalling to p38 via RIT and RIN;RAF activation;MAP2K and MAPK activation;ARMS-mediated activation;Spry regulation of FGF signaling;Frs2-mediated activation;Negative feedback regulation of MAPK pathway;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 7 +NX_P15085 Carboxypeptidase A1 419 47140 5.45 0 Secreted NA Carboxypeptidase that catalyzes the release of a C-terminal amino acid, but has little or no action with -Asp, -Glu, -Arg, -Lys or -Pro. NA Belongs to the peptidase M14 family. Pancreatic secretion;Protein digestion and absorption PE1 7 +NX_P15086 Carboxypeptidase B 417 47368 6.16 0 Secreted NA NA NA Belongs to the peptidase M14 family. Pancreatic secretion;Protein digestion and absorption;Metabolism of Angiotensinogen to Angiotensins PE1 3 +NX_P15088 Mast cell carboxypeptidase A 417 48670 9.08 0 Golgi apparatus;Nucleoplasm;Secretory vesicle NA NA NA Belongs to the peptidase M14 family. Renin-angiotensin system;Pancreatic secretion;Protein digestion and absorption;Metabolism of Angiotensinogen to Angiotensins PE1 3 +NX_P15090 Fatty acid-binding protein, adipocyte 132 14719 6.59 0 Cytoplasm;Nucleus NA Lipid transport protein in adipocytes. Binds both long chain fatty acids and retinoic acid. Delivers long-chain fatty acids and retinoic acid to their cognate receptors in the nucleus. NA Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. PPAR signaling pathway;Triglyceride catabolism;Transcriptional regulation of white adipocyte differentiation PE1 8 +NX_P15104 Glutamine synthetase 373 42064 6.43 0 Cytosol;Mitochondrion;Microsome;Cell membrane Congenital systemic glutamine deficiency Glutamine synthetase that catalyzes the ATP-dependent conversion of glutamate and ammonia to glutamine (PubMed:30158707, PubMed:16267323). Its role depends on tissue localization: in the brain, it regulates the levels of toxic ammonia and converts neurotoxic glutamate to harmless glutamine, whereas in the liver, it is one of the enzymes responsible for the removal of ammonia (By similarity). Essential for proliferation of fetal skin fibroblasts (PubMed:18662667). Independently of its glutamine synthetase activity, required for endothelial cell migration during vascular development: acts by regulating membrane localization and activation of the GTPase RHOJ, possibly by promoting RHOJ palmitoylation (PubMed:30158707). May act as a palmitoyltransferase for RHOJ: able to autopalmitoylate and then transfer the palmitoyl group to RHOJ (PubMed:30158707). Plays a role in ribosomal 40S subunit biogenesis (PubMed:26711351). Palmitoylated; undergoes autopalmitoylation.;Ubiquitinated by ZNRF1. Belongs to the glutamine synthetase family. Alanine, aspartate and glutamate metabolism;Arginine and proline metabolism;Nitrogen metabolism;Metabolic pathways;Glutamatergic synapse;GABAergic synapse;Astrocytic Glutamate-Glutamine Uptake And Metabolism;Glutamate and glutamine metabolism PE1 1 +NX_P15121 Aldo-keto reductase family 1 member B1 316 35853 6.51 0 Nucleoplasm;Cytosol;Cytoplasm NA Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols. Displays enzymatic activity towards endogenous metabolites such as aromatic and aliphatic aldehydes, ketones, monosacharides, bile acids and xenobiotics substrates. Key enzyme in the polyol pathway, catalyzes reduction of glucose to sorbitol during hyperglycemia (PubMed:1936586). Reduces steroids and their derivatives and prostaglandins. Displays low enzymatic activity toward all-trans-retinal, 9-cis-retinal, and 13-cis-retinal (PubMed:12732097, PubMed:19010934, PubMed:8343525). Catalyzes the reduction of diverse phospholipid aldehydes such as 1-palmitoyl-2-(5-oxovaleroyl)-sn -glycero-3-phosphoethanolamin (POVPC) and related phospholipid aldehydes that are generated from the oxydation of phosphotidylcholine and phosphatdyleethanolamides (PubMed:17381426). Plays a role in detoxifying dietary and lipid-derived unsaturated carbonyls, such as crotonaldehyde, 4-hydroxynonenal, trans-2-hexenal, trans-2,4-hexadienal and their glutathione-conjugates carbonyls (GS-carbonyls) (PubMed:21329684). NA Belongs to the aldo/keto reductase family. Pentose and glucuronate interconversions;Fructose and mannose metabolism;Galactose metabolism;Glycerolipid metabolism;Pyruvate metabolism;Metabolic pathways;Pregnenolone biosynthesis;Fructose biosynthesis PE1 7 +NX_P15144 Aminopeptidase N 967 109540 5.31 1 Cell membrane NA (Microbial infection) Acts as a receptor for human coronavirus 229E/HCoV-229E. In case of human coronavirus 229E (HCoV-229E) infection, serves as receptor for HCoV-229E spike glycoprotein.;Broad specificity aminopeptidase which plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Also involved in the processing of various peptides including peptide hormones, such as angiotensin III and IV, neuropeptides, and chemokines. May also be involved the cleavage of peptides bound to major histocompatibility complex class II molecules of antigen presenting cells. May have a role in angiogenesis and promote cholesterol crystallization. May have a role in amino acid transport by acting as binding partner of amino acid transporter SLC6A19 and regulating its activity (By similarity).;(Microbial infection) Mediates as well Human cytomegalovirus (HCMV) infection. Sulfated.;N- and O-glycosylated.;May undergo proteolysis and give rise to a soluble form. Belongs to the peptidase M1 family. Glutathione metabolism;Metabolic pathways;Renin-angiotensin system;Hematopoietic cell lineage;Metabolism of Angiotensinogen to Angiotensins;Neutrophil degranulation PE1 15 +NX_P15151 Poliovirus receptor 417 45303 6.07 1 Cytoplasmic vesicle;Nucleoplasm;Secreted;Cell membrane NA (Microbial infection) Acts as a receptor for poliovirus. May play a role in axonal transport of poliovirus, by targeting virion-PVR-containing endocytic vesicles to the microtubular network through interaction with DYNLT1. This interaction would drive the virus-containing vesicle to the axonal retrograde transport.;(Microbial infection) Acts as a receptor for Pseudorabies virus.;(Microbial infection) Is prevented to reach cell surface upon infection by Human cytomegalovirus /HHV-5, presumably to escape immune recognition of infected cell by NK cells.;Mediates NK cell adhesion and triggers NK cell effector functions. Binds two different NK cell receptors: CD96 and CD226. These interactions accumulates at the cell-cell contact site, leading to the formation of a mature immunological synapse between NK cell and target cell. This may trigger adhesion and secretion of lytic granules and IFN-gamma and activate cytoxicity of activated NK cells. May also promote NK cell-target cell modular exchange, and PVR transfer to the NK cell. This transfer is more important in some tumor cells expressing a lot of PVR, and may trigger fratricide NK cell activation, providing tumors with a mechanism of immunoevasion. Plays a role in mediating tumor cell invasion and migration. Phosphorylated by Src kinases on tyrosine residues in the ITIM motif upon ligation. Interaction with TIGIT is required for Phosphorylation.;N-glycosylated. N-glycan at Asn-120: Hex5HexNAc4. Belongs to the nectin family. Cell adhesion molecules (CAMs);Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Nectin/Necl trans heterodimerization PE1 19 +NX_P15153 Ras-related C3 botulinum toxin substrate 2 192 21429 7.52 0 Cytoplasm Neutrophil immunodeficiency syndrome Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as secretory processes, phagocytose of apoptotic cells and epithelial cell polarization. Augments the production of reactive oxygen species (ROS) by NADPH oxidase. (Microbial infection) Glycosylated at Tyr-32 by Photorhabdus asymbiotica toxin PAU_02230. Mono-O-GlcNAcylation by PAU_02230 inhibits downstream signaling by an impaired interaction with diverse regulator and effector proteins of Rac and leads to actin disassembly. Belongs to the small GTPase superfamily. Rho family. MAPK signaling pathway;Chemokine signaling pathway;Wnt signaling pathway;Axon guidance;VEGF signaling pathway;Focal adhesion;Adherens junction;Natural killer cell mediated cytotoxicity;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Pathways in cancer;Colorectal cancer;Pancreatic cancer;Viral myocarditis;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;GPVI-mediated activation cascade;Rho GTPase cycle;ROS and RNS production in phagocytes;PCP/CE pathway;RHO GTPases Activate NADPH Oxidases;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 22 +NX_P15169 Carboxypeptidase N catalytic chain 458 52286 6.86 0 Extracellular space Carboxypeptidase N deficiency Protects the body from potent vasoactive and inflammatory peptides containing C-terminal Arg or Lys (such as kinins or anaphylatoxins) which are released into the circulation. NA Belongs to the peptidase M14 family. Regulation of Complement cascade PE1 10 +NX_P15170 Eukaryotic peptide chain release factor GTP-binding subunit ERF3A 499 55756 5.45 0 Cytoplasm NA Involved in translation termination in response to the termination codons UAA, UAG and UGA (By similarity). Stimulates the activity of ETF1 (By similarity). Involved in regulation of mammalian cell growth (PubMed:2511002). Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons (PubMed:24486019). Required for SHFL-mediated translation termination which inhibits programmed ribosomal frameshifting (-1PRF) of mRNA from viruses and cellular genes (PubMed:30682371). NA Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. ERF3 subfamily. mRNA surveillance pathway;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Eukaryotic Translation Termination;Regulation of expression of SLITs and ROBOs PE1 16 +NX_P15172 Myoblast determination protein 1 320 34501 5.56 0 Nucleoplasm;Nucleus NA Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYF5 and MYOG, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Interacts with and is inhibited by the twist protein. This interaction probably involves the basic domains of both proteins (By similarity). Methylation at Lys-104 by EHMT2/G9a inhibits myogenic activity.;Acetylated by a complex containing EP300 and PCAF. The acetylation is essential to activate target genes. Conversely, its deacetylation by SIRT1 inhibits its function (By similarity).;Phosphorylated by CDK9. This phosphorylation promotes its function in muscle differentiation.;Ubiquitinated on the N-terminus; which is required for proteasomal degradation.;MYOD1 is phosphorylated by CDK9 NA Myogenesis PE1 11 +NX_P15173 Myogenin 224 25037 5.45 0 Nucleoplasm;Nucleus NA Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation, cell cycle exit and muscle atrophy. Essential for the development of functional embryonic skeletal fiber muscle differentiation. However is dispensable for postnatal skeletal muscle growth; phosphorylation by CAMK2G inhibits its transcriptional activity in respons to muscle activity. Required for the recruitment of the FACT complex to muscle-specific promoter regions, thus promoting gene expression initiation. During terminal myoblast differentiation, plays a role as a strong activator of transcription at loci with an open chromatin structure previously initiated by MYOD1. Together with MYF5 and MYOD1, co-occupies muscle-specific gene promoter core regions during myogenesis. Cooperates also with myocyte-specific enhancer factor MEF2D and BRG1-dependent recruitment of SWI/SNF chromatin-remodeling enzymes to alter chromatin structure at myogenic late gene promoters. Facilitates cell cycle exit during terminal muscle differentiation through the up-regulation of miR-20a expression, which in turn represses genes involved in cell cycle progression. Binds to the E-box containing (E1) promoter region of the miR-20a gene. Plays also a role in preventing reversal of muscle cell differentiation. Contributes to the atrophy-related gene expression in adult denervated muscles. Induces fibroblasts to differentiate into myoblasts (By similarity). Phosphorylated by CAMK2G on threonine and serine amino acids in a muscle activity-dependent manner. Phosphorylation of Thr-87 impairs both DNA-binding and trans-activation functions in contracting muscles (By similarity). NA Myogenesis PE1 1 +NX_P15248 Interleukin-9 144 15909 8.93 0 Secreted NA Supports IL-2 independent and IL-4 independent growth of helper T-cells. NA Belongs to the IL-7/IL-9 family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Asthma;Interleukin-9 signaling PE2 5 +NX_P15259 Phosphoglycerate mutase 2 253 28766 8.99 0 Nucleoplasm;Cytosol;Nucleolus Glycogen storage disease 10 Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase), but with a reduced activity. NA Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily. Glycolysis / Gluconeogenesis;Metabolic pathways;Glycolysis;Gluconeogenesis PE1 7 +NX_P15260 Interferon gamma receptor 1 489 54405 4.83 1 Cell membrane Immunodeficiency 27A;Immunodeficiency 27B Associates with IFNGR2 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:7615558, PubMed:2971451, PubMed:7617032, PubMed:10986460). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:7673114). Plays an essential role in the IFN-gamma pathway that is required for the cellular response to infectious agents (PubMed:20015550). Phosphorylated at Ser/Thr residues. Belongs to the type II cytokine receptor family. Cytokine-cytokine receptor interaction;Osteoclast differentiation;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Salmonella infection;Leishmaniasis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Tuberculosis;Measles;Influenza A;Herpes simplex infection;Interferon gamma signaling;Regulation of IFNG signaling PE1 6 +NX_P15289 Arylsulfatase A 507 53588 5.65 0 Golgi apparatus;Endoplasmic reticulum;Cytosol;Lysosome Metachromatic leukodystrophy;Multiple sulfatase deficiency Hydrolyzes cerebroside sulfate. The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. This post-translational modification is severely defective in multiple sulfatase deficiency (MSD). Belongs to the sulfatase family. Sphingolipid metabolism;Lysosome;Glycosphingolipid metabolism;The activation of arylsulfatases;Neutrophil degranulation PE1 22 +NX_P15291 Beta-1,4-galactosyltransferase 1 398 43920 8.88 1 Golgi apparatus;Cell membrane;Secreted;Cell surface;Golgi stack membrane;Filopodium Congenital disorder of glycosylation 2D The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.;The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrix interactions, as those occurring during development and egg fertilization, by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix. The soluble form derives from the membrane forms by proteolytic processing. Belongs to the glycosyltransferase 7 family. Protein modification; protein glycosylation.;Galactose metabolism;N-Glycan biosynthesis;Other types of O-glycan biosynthesis;Glycosaminoglycan biosynthesis - keratan sulfate;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;Keratan sulfate biosynthesis;Defective B4GALT1 causes B4GALT1-CDG (CDG-2d);Pre-NOTCH Processing in Golgi;N-Glycan antennae elongation;Lactose synthesis;Defective B4GALT1 causes B4GALT1-CDG (CDG-2d);Interaction With Cumulus Cells And The Zona Pellucida;Neutrophil degranulation PE1 9 +NX_P15309 Prostatic acid phosphatase 386 44566 5.83 0 Lysosome membrane;Secreted;Cell membrane NA A non-specific tyrosine phosphatase that dephosphorylates a diverse number of substrates under acidic conditions (pH 4-6) including alkyl, aryl, and acyl orthophosphate monoesters and phosphorylated proteins. Has lipid phosphatase activity and inactivates lysophosphatidic acid in seminal plasma.;The cellular form also has ecto-5'-nucleotidase activity in dorsal root ganglion (DRG) neurons. Generates adenosine from AMP which acts as a pain suppressor. Acts as a tumor suppressor of prostate cancer through dephosphorylation of ERBB2 and deactivation of MAPK-mediated signaling. Proteolytically cleaved in seminal fluid to produce several peptides. Peptide PAPf39, the most prominent, forms amyloid beta-sheet fibrils, SEVI (semen-derived enhancer of viral infection) which entrap HIV virions, attach them to target cells and enhance infection. SEVI amyloid fibrils are degraded by polyphenol epigallocatechin-3-gallate (EGCG), a constituent of green tea. Target cell attachment and enhancement of HIV infection is inhibited by surfen. Also similarly boosts XMRV (xenotropic murine leukemia virus-related virus) infection.;N-glycosylated. High mannose content, partially sialylated and fucosylated biantennary complex. Also fucosylated with partially sialylated triantennary complex oligosaccharides. Belongs to the histidine acid phosphatase family. Riboflavin metabolism;Neutrophil degranulation PE1 3 +NX_P15311 Ezrin 586 69413 5.94 0 Cell cortex;Cell membrane;Cell projection;Microvillus membrane;Ruffle membrane;Apical cell membrane;Microvillus;Cytoskeleton NA Probably involved in connections of major cytoskeletal structures to the plasma membrane. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with PLEKHG6, required for normal macropinocytosis. Phosphorylated by tyrosine-protein kinases. Phosphorylation by ROCK2 suppresses the head-to-tail association of the N-terminal and C-terminal halves resulting in an opened conformation which is capable of actin and membrane-binding (By similarity).;S-nitrosylation is induced by interferon-gamma and oxidatively-modified low-densitity lipoprotein (LDL(ox)) possibly implicating the iNOS-S100A8/9 transnitrosylase complex. NA Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Gastric acid secretion;Pathogenic Escherichia coli infection;Netrin-1 signaling;Recycling pathway of L1 PE1 6 +NX_P15313 V-type proton ATPase subunit B, kidney isoform 513 56833 5.44 0 Nucleoplasm;Endomembrane system;Nucleus membrane Renal tubular acidosis, distal, with progressive nerve deafness Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. NA Belongs to the ATPase alpha/beta chains family. Oxidative phosphorylation;Metabolic pathways;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE1 2 +NX_P15328 Folate receptor alpha 257 29819 8.3 0 Clathrin-coated vesicle;Cell membrane;Secreted;Nucleus membrane;Endosome;Cytoplasmic vesicle;Apical cell membrane Neurodegeneration due to cerebral folate transport deficiency Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release. Required for normal embryonic development and normal cell proliferation. The secreted form is derived from the membrane-bound form either by cleavage of the GPI anchor, or/and by proteolysis catalyzed by a metalloprotease. Belongs to the folate receptor family. Endocytosis;COPII-mediated vesicle transport;Cargo concentration in the ER;COPI-mediated anterograde transport PE1 11 +NX_P15336 Cyclic AMP-dependent transcription factor ATF-2 505 54537 7.75 0 Mitochondrion outer membrane;Cytoplasm;Nucleoplasm;Nucleus NA Transcriptional activator which regulates the transcription of various genes, including those involved in anti-apoptosis, cell growth, and DNA damage response. Dependent on its binding partner, binds to CRE (cAMP response element) consensus sequences (5'-TGACGTCA-3') or to AP-1 (activator protein 1) consensus sequences (5'-TGACTCA-3'). In the nucleus, contributes to global transcription and the DNA damage response, in addition to specific transcriptional activities that are related to cell development, proliferation and death. In the cytoplasm, interacts with and perturbs HK1- and VDAC1-containing complexes at the mitochondrial outer membrane, thereby impairing mitochondrial membrane potential, inducing mitochondrial leakage and promoting cell death. The phosphorylated form (mediated by ATM) plays a role in the DNA damage response and is involved in the ionizing radiation (IR)-induced S phase checkpoint control and in the recruitment of the MRN complex into the IR-induced foci (IRIF). Exhibits histone acetyltransferase (HAT) activity which specifically acetylates histones H2B and H4 in vitro. In concert with CUL3 and RBX1, promotes the degradation of KAT5 thereby attenuating its ability to acetylate and activate ATM. Can elicit oncogenic or tumor suppressor activities depending on the tissue or cell type. Phosphorylation of Thr-69 by MAPK14 and MAPK11, and at Thr-71 by MAPK1/ERK2, MAPK3/ERK1, MAPK11, MAPK12 and MAPK14 in response to external stimulus like insulin causes increased transcriptional activity. Phosphorylated by PLK3 following hyperosmotic stress. Also phosphorylated and activated by JNK and CaMK4. ATM-mediated phosphorylation at Ser-490 and Ser-498 stimulates its function in DNA damage response. Phosphorylation at Ser-62, Thr-73 and Ser-121 activates its transcriptional activity. Phosphorylation at Thr-69 or Thr-71 enhances its histone acetyltransferase (HAT) activity.;ATF2 is phosphorylated by MAPK11 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);ATF2 is phosphorylated by MAPK12 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);ATF2 is phosphorylated by MAPK13 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);ATF2 is phosphorylated by MAPK8 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the bZIP family. ATF subfamily. MAPK signaling pathway;Dopaminergic synapse;Influenza A;HTLV-I infection;HATs acetylate histones;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;Activation of the AP-1 family of transcription factors;TP53 Regulates Transcription of DNA Repair Genes;Regulation of PTEN gene transcription;Estrogen-dependent gene expression PE1 2 +NX_P15374 Ubiquitin carboxyl-terminal hydrolase isozyme L3 230 26183 4.84 0 Nucleoplasm;Cytosol;Cytoplasm NA Deubiquitinating enzyme (DUB) that controls levels of cellular ubiquitin through processing of ubiquitin precursors and ubiquitinated proteins. Thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of either ubiquitin or NEDD8. Has a 10-fold preference for Arg and Lys at position P3'', and exhibits a preference towards 'Lys-48'-linked ubiquitin chains. Deubiquitinates ENAC in apical compartments, thereby regulating apical membrane recycling. Indirectly increases the phosphorylation of IGFIR, AKT and FOXO1 and promotes insulin-signaling and insulin-induced adipogenesis. Required for stress-response retinal, skeletal muscle and germ cell maintenance. May be involved in working memory. Can hydrolyze UBB(+1), a mutated form of ubiquitin which is not effectively degraded by the proteasome and is associated with neurogenerative disorders. NA Belongs to the peptidase C12 family. UCH proteinases;Synthesis of active ubiquitin: roles of E1 and E2 enzymes;Neddylation PE1 13 +NX_P15382 Potassium voltage-gated channel subfamily E member 1 129 14675 6.83 1 Apical cell membrane;Membrane raft;Cell membrane Jervell and Lange-Nielsen syndrome 2;Long QT syndrome 5 Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed:19219384). Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr). N-glycosylation at Asn-26 occurs post-translationally, and requires prior cotranslational glycosylation at Asn-5.;Phosphorylation inhibits the potassium current. Belongs to the potassium channel KCNE family. Phase 3 - rapid repolarisation;Phase 2 - plateau phase PE1 21 +NX_P15391 B-lymphocyte antigen CD19 556 61128 4.87 1 Membrane raft;Cell membrane Immunodeficiency, common variable, 3 Functions as coreceptor for the B-cell antigen receptor complex (BCR) on B-lymphocytes. Decreases the threshold for activation of downstream signaling pathways and for triggering B-cell responses to antigens (PubMed:2463100, PubMed:1373518, PubMed:16672701). Activates signaling pathways that lead to the activation of phosphatidylinositol 3-kinase and the mobilization of intracellular Ca(2+) stores (PubMed:9382888, PubMed:9317126, PubMed:12387743, PubMed:16672701). Is not required for early steps during B cell differentiation in the blood marrow (PubMed:9317126). Required for normal differentiation of B-1 cells (By similarity). Required for normal B cell differentiation and proliferation in response to antigen challenges (PubMed:2463100, PubMed:1373518). Required for normal levels of serum immunoglobulins, and for production of high-affinity antibodies in response to antigen challenge (PubMed:9317126, PubMed:12387743, PubMed:16672701). Phosphorylated on tyrosine following B-cell activation (PubMed:7684160, PubMed:7687539, PubMed:10706702, PubMed:12387743). Phosphorylated on tyrosine residues by LYN (PubMed:7687428). Tyrosine residues are phosphorylated sequentially after activation of the B cell receptor. Phosphorylation of Tyr-531 is extremely rapid, followed by phosphorylation at Tyr-409. In contrast, phosphorylation of Tyr-500 appears more slowly and is more transient, returning rapidly to basal levels (By similarity). NA Hematopoietic cell lineage;B cell receptor signaling pathway;Primary immunodeficiency;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 16 +NX_P15407 Fos-related antigen 1 271 29413 8.21 0 Cytoplasm;Nucleoplasm;Nucleus NA NA NA Belongs to the bZIP family. Fos subfamily. Wnt signaling pathway;Osteoclast differentiation;HTLV-I infection PE1 11 +NX_P15408 Fos-related antigen 2 326 35193 7.03 0 Nucleoplasm;Nucleus NA Controls osteoclast survival and size. As a dimer with JUN, activates LIF transcription. Activates CEBPB transcription in PGE2-activated osteoblasts. NA Belongs to the bZIP family. Fos subfamily. Osteoclast differentiation PE1 2 +NX_P15421 Glycophorin-E 78 8463 9.51 1 Membrane NA This protein is a minor sialoglycoprotein in human erythrocyte membranes. The N-terminal extracellular domain is heavily glycosylated on serine and threonine residues. Belongs to the glycophorin-A family. NA PE2 4 +NX_P15428 15-hydroxyprostaglandin dehydrogenase [NAD(+)] 266 28977 5.56 0 Nucleoplasm;Cytosol;Cytoplasm Hypertrophic osteoarthropathy, primary, autosomal recessive, 1;Cranioosteoarthropathy;Isolated congenital nail clubbing Prostaglandin inactivation. Contributes to the regulation of events that are under the control of prostaglandin levels. Catalyzes the NAD-dependent dehydrogenation of lipoxin A4 to form 15-oxo-lipoxin A4. Inhibits in vivo proliferation of colon cancer cells. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Synthesis of Prostaglandins (PG) and Thromboxanes (TX);Synthesis of Lipoxins (LX);Biosynthesis of D-series resolvins;Biosynthesis of E-series 18(S)-resolvins PE1 4 +NX_P15498 Proto-oncogene vav 845 98314 6.2 0 Cytosol NA Couples tyrosine kinase signals with the activation of the Rho/Rac GTPases, thus leading to cell differentiation and/or proliferation. Phosphorylated on tyrosine residues by HCK in response to IFNG and bacterial lipopolysaccharide (LPS) (By similarity). Phosphorylated by FYN.;VAV1 is phosphorylated by FYN (Phosphotyrosine:PTM-0255);VAV1 is phosphorylated by HCK (Phosphotyrosine:PTM-0255);VAV1 is phosphorylated by INSR (Phosphotyrosine:PTM-0255);VAV1 is phosphorylated by MERTK (Phosphotyrosine:PTM-0255) NA Chemokine signaling pathway;Focal adhesion;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Regulation of actin dynamics for phagocytic cup formation;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;GPVI-mediated activation cascade;Rho GTPase cycle;NRAGE signals death through JNK;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;G alpha (12/13) signalling events;VEGFA-VEGFR2 Pathway;VEGFR2 mediated vascular permeability;Signaling by SCF-KIT;CD28 dependent Vav1 pathway;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Interleukin-3, Interleukin-5 and GM-CSF signaling;Regulation of signaling by CBL;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Erythropoietin activates RAS PE1 19 +NX_P15502 Elastin 786 68398 10.4 0 Extracellular matrix;Mitochondrion;Cell membrane Supravalvular aortic stenosis;Cutis laxa, autosomal dominant, 1 Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity). Hydroxylation on proline residues within the sequence motif, GXPG, is most likely 4-hydroxy as this fits the requirement for 4-hydroxylation in vertebrates.;Elastin is formed through the cross-linking of its soluble precursor tropoelastin. Cross-linking is initiated through the action of lysyl oxidase on exposed lysines to form allysine. Subsequent spontaneous condensation reactions with other allysine or unmodified lysine residues result in various bi-, tri-, and tetrafunctional cross-links. The most abundant cross-links in mature elastin fibers are lysinonorleucine, allysine aldol, desmosine, and isodesmosine. Belongs to the elastin family. Protein digestion and absorption;Degradation of the extracellular matrix;Molecules associated with elastic fibres;Elastic fibre formation PE1 7 +NX_P15509 Granulocyte-macrophage colony-stimulating factor receptor subunit alpha 400 46207 7.91 1 Secreted;Cell membrane Pulmonary surfactant metabolism dysfunction 4 Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells. NA Belongs to the type I cytokine receptor family. Type 5 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Hematopoietic cell lineage;Pathways in cancer;RAF/MAP kinase cascade;Interleukin receptor SHC signaling;Interleukin-3, Interleukin-5 and GM-CSF signaling;Surfactant metabolism;Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5);Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4) PE1 X +NX_P15514 Amphiregulin 252 27895 7.01 1 Membrane;Mitochondrion NA Ligand of the EGF receptor/EGFR. Autocrine growth factor as well as a mitogen for a broad range of target cells including astrocytes, Schwann cells and fibroblasts. NA Belongs to the amphiregulin family. ErbB signaling pathway;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;EGFR downregulation;Signaling by EGFR;COPII-mediated vesicle transport;GAB1 signalosome;GRB2 events in EGFR signaling;SHC1 events in EGFR signaling;EGFR interacts with phospholipase C-gamma;Inhibition of Signaling by Overexpressed EGFR;Cargo concentration in the ER;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Extra-nuclear estrogen signaling;Estrogen-dependent nuclear events downstream of ESR-membrane signaling PE1 4 +NX_P15515 Histatin-1 57 6963 9.1 0 Secreted NA Histatins are salivary proteins that are considered to be major precursors of the protective proteinaceous structure on tooth surfaces (enamel pellicle). In addition, histatins exhibit antibacterial and antifungal activities. Depending on the authors, the form called histatin-2 is alternatively a proteolytic product, or the non-phosphorylated form of histatin-1. Belongs to the histatin/statherin family. Salivary secretion;Antimicrobial peptides PE1 4 +NX_P15516 Histatin-3 51 6149 10.09 0 Secreted NA Histatins are salivary proteins that are considered to be major precursors of the protective proteinaceous structure on tooth surfaces (enamel pellicle). In addition, histatins exhibit antibacterial and antifungal activities. His3-(20-43)-peptide (histatin-5) is especially effective against C.albicans and C.neoformans, and inhibits Lys-gingipain and Arg-gingipain (rgpB) from P.gingivalis. In addition, His3-(20-43)-peptide is a potent inhibitor of metalloproteinases MMP2 and MMP9. 24 proteolytic products are found in saliva. Belongs to the histatin/statherin family. Antimicrobial peptides PE1 4 +NX_P15529 Membrane cofactor protein 392 43747 6.34 1 Acrosome inner membrane;Cell membrane Hemolytic uremic syndrome atypical 2 (Microbial infection) Acts as a receptor for Herpesvirus 6/HHV-6.;Acts as a cofactor for complement factor I, a serine protease which protects autologous cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of the spermatozoa with the oocyte during fertilization. Also acts as a costimulatory factor for T-cells which induces the differentiation of CD4+ into T-regulatory 1 cells. T-regulatory 1 cells suppress immune responses by secreting interleukin-10, and therefore are thought to prevent autoimmunity.;(Microbial infection) Acts as a receptor for Adenovirus subgroup B2 and Ad3.;(Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes (PubMed:7708671, PubMed:9379894, PubMed:11260136, PubMed:11971006).;(Microbial infection) A number of viral and bacterial pathogens seem to bind MCP in order to exploit its immune regulation property and directly induce an immunosuppressive phenotype in T-cells.;(Microbial infection) Acts as a receptor for cultured Measles virus. In epithelial cells, isoforms B/D/F/H/J/L/3 are phosphorylated by YES1 in response to infection by Neisseria gonorrhoeae; which promotes infectivity. In T-cells, these isoforms may be phosphorylated by LCK.;N-glycosylated on Asn-83; Asn-114 and Asn-273 in most tissues, but probably less N-glycosylated in testis. N-glycosylation on Asn-114 and Asn-273 is required for cytoprotective function. N-glycosylation on Asn-114 is required for Measles virus binding. N-glycosylation on Asn-273 is required for Neisseria binding. N-glycosylation is not required for human adenovirus binding.;Extensively O-glycosylated in the Ser/Thr-rich domain. O-glycosylation is required for Neisseria binding but not for Measles virus or human adenovirus binding. NA Complement and coagulation cascades;Measles;Regulation of Complement cascade PE1 1 +NX_P15531 Nucleoside diphosphate kinase A 152 17149 5.83 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Possesses nucleoside-diphosphate kinase, serine/threonine-specific protein kinase, geranyl and farnesyl pyrophosphate kinase, histidine protein kinase and 3'-5' exonuclease activities. Involved in cell proliferation, differentiation and development, signal transduction, G protein-coupled receptor endocytosis, and gene expression. Required for neural development including neural patterning and cell fate determination. During GZMA-mediated cell death, works in concert with TREX1. NME1 nicks one strand of DNA and TREX1 removes bases from the free 3' end to enhance DNA damage and prevent DNA end reannealing and rapid repair. NA Belongs to the NDK family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;Interconversion of nucleotide di- and triphosphates PE1 17 +NX_P15538 Cytochrome P450 11B1, mitochondrial 503 57573 9.4 0 Mitochondrion inner membrane Adrenal hyperplasia 4;Hyperaldosteronism, familial, 1 A cytochrome P450 monooxygenase involved in the biosynthesis of adrenal corticoids (PubMed:18215163). Catalyzes the hydroxylation of carbon hydrogen bond at 11-beta position of 11-deoxycortisol and 11-deoxycorticosterone/21-hydroxyprogesterone yielding cortisol or corticosterone, respectively (PubMed:18215163). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) (PubMed:18215163). NA Belongs to the cytochrome P450 family. Steroid biosynthesis; glucocorticoid biosynthesis.;Steroid hormone biosynthesis.;Steroid hormone biosynthesis;Metabolic pathways;Endogenous sterols;Glucocorticoid biosynthesis;Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4) PE1 8 +NX_P15559 NAD(P)H dehydrogenase [quinone] 1 274 30868 8.91 0 Cytoplasm;Cytosol NA The enzyme apparently serves as a quinone reductase in connection with conjugation reactions of hydroquinons involved in detoxification pathways as well as in biosynthetic processes such as the vitamin K-dependent gamma-carboxylation of glutamate residues in prothrombin synthesis. NA Belongs to the NAD(P)H dehydrogenase (quinone) family. Regulation of ornithine decarboxylase (ODC) PE1 16 +NX_P15586 N-acetylglucosamine-6-sulfatase 552 62082 8.6 0 Lysosome Mucopolysaccharidosis 3D NA The form A (78 kDa) is processed by internal peptidase cleavage to a 32 kDa N-terminal species (form B) and a 48 kDa C-terminal species.;The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. Belongs to the sulfatase family. Glycosaminoglycan degradation;Metabolic pathways;Lysosome;Keratan sulfate degradation;Lysosome Vesicle Biogenesis;MPS IIID - Sanfilippo syndrome D;Neutrophil degranulation PE1 12 +NX_P15621 Zinc finger protein 44 663 76524 9 0 Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_P15622 Zinc finger protein 250 560 63468 8.65 0 Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 8 +NX_P15692 Vascular endothelial growth factor A 232 27042 9.21 0 Secreted Microvascular complications of diabetes 1 Binds to KDR but does not activate downstream signaling pathways, does not activate angiogenesis and inhibits tumor growth. Binding to NRP1 receptor initiates a signaling pathway needed for motor neuron axon guidance and cell body migration, including for the caudal migration of facial motor neurons from rhombomere 4 to rhombomere 6 during embryonic development (By similarity).;Growth factor active in angiogenesis, vasculogenesis and endothelial cell growth. Induces endothelial cell proliferation, promotes cell migration, inhibits apoptosis and induces permeabilization of blood vessels. Binds to the FLT1/VEGFR1 and KDR/VEGFR2 receptors, heparan sulfate and heparin. NRP1/Neuropilin-1 binds isoforms VEGF-165 and VEGF-145. NA Belongs to the PDGF/VEGF growth factor family. Cytokine-cytokine receptor interaction;mTOR signaling pathway;VEGF signaling pathway;Focal adhesion;Pathways in cancer;Renal cell carcinoma;Pancreatic cancer;Bladder cancer;Rheumatoid arthritis;VEGFA-VEGFR2 Pathway;Regulation of gene expression by Hypoxia-inducible Factor;Platelet degranulation;VEGFR2 mediated cell proliferation;VEGF ligand-receptor interactions;VEGF binds to VEGFR leading to receptor dimerization;TFAP2 (AP-2) family regulates transcription of growth factors and their receptors;Interleukin-4 and Interleukin-13 signaling PE1 6 +NX_P15735 Phosphorylase b kinase gamma catalytic chain, liver/testis isoform 406 46442 5.95 0 Cytosol Glycogen storage disease 9C Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate glycogeneolysis in the testis. In vitro, phosphorylates PYGM (By similarity). NA Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Calcium signaling pathway;Insulin signaling pathway;Glycogen breakdown (glycogenolysis) PE1 16 +NX_P15812 T-cell surface glycoprotein CD1e, membrane-associated 388 43626 8.87 1 Early endosome;Lysosome lumen;Late endosome;Golgi apparatus membrane NA T-cell surface glycoprotein CD1e, soluble binds diacetylated lipids, including phosphatidyl inositides and diacylated sulfoglycolipids, and is required for the presentation of glycolipid antigens on the cell surface. The membrane-associated form is not active. Mono-ubiquitinated.;Proteolytically cleaved in late endosomes to yield a soluble form. NA Hematopoietic cell lineage PE1 1 +NX_P15813 Antigen-presenting glycoprotein CD1d 335 37717 8.43 1 Endoplasmic reticulum membrane;Endosome membrane;Cell membrane;Basolateral cell membrane;Lysosome membrane;Endoplasmic reticulum NA Antigen-presenting protein that binds self and non-self glycolipids and presents them to T-cell receptors on natural killer T-cells. NA NA Hematopoietic cell lineage;Amoebiasis;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 1 +NX_P15814 Immunoglobulin lambda-like polypeptide 1 213 22963 10.1 0 Endoplasmic reticulum;Secreted Agammaglobulinemia 2, autosomal recessive Critical for B-cell development. NA NA Primary immunodeficiency;Cell surface interactions at the vascular wall PE1 22 +NX_P15822 Zinc finger protein 40 2718 296865 7.98 0 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA May be involved in apoptosis.;Also bind to the IPCS (IRF1 and p53 common sequence) DNA sequence in the promoter region of interferon regulatory factor 1 and p53 genes and are involved in transcription regulation of these genes.;This protein specifically binds to the DNA sequence 5'-GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV-1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, and interferon-beta genes. It may act in T-cell activation. Involved in activating HIV-1 gene expression.;Does not activate HIV-1 gene expression. NA NA NA PE1 6 +NX_P15848 Arylsulfatase B 533 59687 8.43 0 Cell surface;Golgi apparatus;Lysosome Multiple sulfatase deficiency;Mucopolysaccharidosis 6 Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity). The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. This post-translational modification is severely defective in multiple sulfatase deficiency (MSD). Belongs to the sulfatase family. Glycosaminoglycan degradation;Metabolic pathways;Lysosome;Glycosphingolipid metabolism;CS/DS degradation;The activation of arylsulfatases;MPS VI - Maroteaux-Lamy syndrome;Neutrophil degranulation PE1 5 +NX_P15863 Paired box protein Pax-1 534 55499 9.9 0 Nucleus Otofaciocervical syndrome 2 This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity). NA NA NA PE1 20 +NX_P15880 40S ribosomal protein S2 293 31324 10.25 0 Endoplasmic reticulum;Cytoplasm;Cytosol NA NA Citrullinated by PADI4 in the Arg/Gly-rich region.;Asymmetric arginine dimethylation by PRMT3 occurs at multiple sites in the Arg/Gly-rich region. Belongs to the universal ribosomal protein uS5 family. Ribosome;RMTs methylate histone arginines;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Protein methylation;Regulation of expression of SLITs and ROBOs PE1 16 +NX_P15882 N-chimaerin 459 53172 6.51 0 Cytosol Duane retraction syndrome 2 GTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal locomotor circuits as a direct effector of EPHA4 in axon guidance. Phosphorylated. Phosphorylation is EPHA4 kinase activity-dependent (By similarity). NA Rho GTPase cycle PE1 2 +NX_P15884 Transcription factor 4 667 71308 6.51 0 Nucleoplasm;Cytosol;Nucleus Corneal dystrophy, Fuchs endothelial, 3;Pitt-Hopkins syndrome Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'. NA NA HTLV-I infection;Myogenesis PE1 18 +NX_P15907 Beta-galactoside alpha-2,6-sialyltransferase 1 406 46605 9.13 1 Golgi stack membrane;Secreted NA Transfers sialic acid from CMP-sialic acid to galactose-containing acceptor substrates. The soluble form derives from the membrane form by proteolytic processing.;The HB-6, CDW75, and CD76 differentiation antigens are cell-surface carbohydrate determinants generated by this enzyme.;N-glycosylated. Belongs to the glycosyltransferase 29 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Other types of O-glycan biosynthesis;Metabolic pathways;Sialic acid metabolism;Termination of O-glycan biosynthesis;N-Glycan antennae elongation PE1 3 +NX_P15918 V(D)J recombination-activating protein 1 1043 119097 8.94 0 Nucleoplasm;Nucleus Omenn syndrome;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive;Combined cellular and humoral immune defects with granulomas;Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signal sequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break between the RSS and the adjacent coding segment. RAG2 is not a catalytic component but is required for all known catalytic activities. DNA cleavage occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, generating a 3'-hydroxyl group that can attack the phosphodiester bond on the opposite strand in a direct transesterification reaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2 blunt, 5'-phosphorylated ends. The chromatin structure plays an essential role in the V(D)J recombination reactions and the presence of histone H3 trimethylated at 'Lys-4' (H3K4me3) stimulates both the nicking and haipinning steps. The RAG complex also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin allele induces ATM-dependent repositioning of the other allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. In addition to its endonuclease activity, RAG1 also acts as an E3 ubiquitin-protein ligase that mediates monoubiquitination of histone H3. Histone H3 monoubiquitination is required for the joining step of V(D)J recombination. Mediates polyubiquitination of KPNA1 (By similarity). Autoubiquitinated in the presence of CDC34/UBCH3. Belongs to the RAG1 family. Primary immunodeficiency;MAPK6/MAPK4 signaling;Interleukin-7 signaling PE1 11 +NX_P15923 Transcription factor E2-alpha 654 67600 6 0 Nucleoplasm;Nucleus Agammaglobulinemia 8, autosomal dominant Transcriptional regulator. Involved in the initiation of neuronal differentiation. Heterodimers between TCF3 and tissue-specific basic helix-loop-helix (bHLH) proteins play major roles in determining tissue-specific cell fate during embryogenesis, like muscle or early B-cell differentiation. Dimers bind DNA on E-box motifs: 5'-CANNTG-3'. Binds to the kappa-E2 site in the kappa immunoglobulin gene enhancer. Binds to IEB1 and IEB2, which are short DNA sequences in the insulin gene transcription control region. Phosphorylated following NGF stimulation.;TCF3 is phosphorylated by MAPKAPK3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA HTLV-I infection;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Myogenesis PE1 19 +NX_P15924 Desmoplakin 2871 331774 6.44 0 Cell junction;Desmosome;Cell membrane;Cytoskeleton Cardiomyopathy, dilated, with woolly hair and keratoderma;Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis;Epidermolysis bullosa, lethal acantholytic;Keratoderma, palmoplantar, striate 2;Skin fragility-woolly hair syndrome;Arrhythmogenic right ventricular dysplasia, familial, 8 Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes. Ser-2849 is probably phosphorylated by a cAMP-dependent protein kinase. Phosphorylation on Ser-2849 probably affects its association with epidermal, simple cytokeratins and VIM intermediate filaments. Belongs to the plakin or cytolinker family. Arrhythmogenic right ventricular cardiomyopathy (ARVC);Apoptotic cleavage of cell adhesion proteins;Neutrophil degranulation;Formation of the cornified envelope;Keratinization PE1 6 +NX_P15927 Replication protein A 32 kDa subunit 270 29247 5.75 0 Nucleoplasm;PML body;Nucleus NA As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates, that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism. Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage. In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruitment of ATRIP activates the ATR kinase a master regulator of the DNA damage response. It is required for the recruitment of the DNA double-strand break repair factors RAD51 and RAD52 to chromatin in response to DNA damage. Also recruits to sites of DNA damage proteins like XPA and XPG that are involved in nucleotide excision repair and is required for this mechanism of DNA repair. Plays also a role in base excision repair (BER) probably through interaction with UNG. Also recruits SMARCAL1/HARP, which is involved in replication fork restart, to sites of DNA damage. May also play a role in telomere maintenance. DNA damage-induced 'Lys-63'-linked polyubiquitination by PRPF19 mediates ATRIP recruitment to the RPA complex at sites of DNA damage and activation of ATR (PubMed:24332808). Ubiquitinated by RFWD3 at stalled replication forks in response to DNA damage: ubiquitination by RFWD3 does not lead to degradation by the proteasome and promotes removal of the RPA complex from stalled replication forks, promoting homologous recombination (PubMed:26474068).;Differentially phosphorylated throughout the cell cycle, becoming phosphorylated at the G1-S transition and dephosphorylated in late mitosis. Mainly phosphorylated at Ser-23 and Ser-29, by cyclin A-CDK2 and cyclin B-CDK1, respectively during DNA replication and mitosis. Dephosphorylation may require the serine/threonine-protein phosphatase 4. Phosphorylation at Ser-23 and Ser-29 is a prerequisite for further phosphorylation. Becomes hyperphosphorylated on additional residues including Ser-4, Ser-8, Thr-21 and Ser-33 in response to DNA damage. Hyperphosphorylation is mediated by ATM, ATR and PRKDC. Primarily recruited to DNA repair nuclear foci as a hypophosphorylated form it undergoes subsequent hyperphosphorylation, catalyzed by ATR. Hyperphosphorylation is required for RAD51 recruitment to chromatin and efficient DNA repair. Phosphorylation at Thr-21 depends upon RFWD3 presence. Belongs to the replication factor A protein 2 family. DNA replication;Nucleotide excision repair;Mismatch repair;Homologous recombination;Fanconi anemia pathway;Regulation of HSF1-mediated heat shock response;Translesion Synthesis by POLH;Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha);Meiotic recombination;Activation of ATR in response to replication stress;Activation of the pre-replicative complex;G2/M DNA damage checkpoint;HSF1 activation;Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta);Translesion synthesis by POLI;Termination of translesion DNA synthesis;Translesion synthesis by REV1;Translesion synthesis by POLK;PCNA-Dependent Long Patch Base Excision Repair;Recognition of DNA damage by PCNA-containing replication complex;Removal of the Flap Intermediate from the C-strand;Removal of the Flap Intermediate;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER;Fanconi Anemia Pathway;Regulation of TP53 Activity through Phosphorylation PE1 1 +NX_P15941 Mucin-1 1255 122102 6.96 1 Cytoplasm;Cell membrane;Secreted;Apical cell membrane;Nucleus Medullary cystic kidney disease 1 The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack.;The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity. Proteolytic cleavage in the SEA domain occurs in the endoplasmic reticulum by an autoproteolytic mechanism and requires the full-length SEA domain as well as requiring a Ser, Thr or Cys residue at the P + 1 site. Cleavage at this site also occurs on isoform MUC1/X but not on isoform MUC1/Y. Ectodomain shedding is mediated by ADAM17.;The N-terminal sequence has been shown to begin at position 24 or 28.;Dual palmitoylation on cysteine residues in the CQC motif is required for recycling from endosomes back to the plasma membrane.;Highly glycosylated (N- and O-linked carbohydrates and sialic acid). O-glycosylated to a varying degree on serine and threonine residues within each tandem repeat, ranging from mono- to penta-glycosylation. The average density ranges from about 50% in human milk to over 90% in T47D breast cancer cells. Further sialylation occurs during recycling. Membrane-shed glycoproteins from kidney and breast cancer cells have preferentially sialyated core 1 structures, while secreted forms from the same tissues display mainly core 2 structures. The O-glycosylated content is overlapping in both these tissues with terminal fucose and galactose, 2- and 3-linked galactose, 3- and 3,6-linked GalNAc-ol and 4-linked GlcNAc predominating. Differentially O-glycosylated in breast carcinomas with 3,4-linked GlcNAc. N-glycosylation consists of high-mannose, acidic complex-type and hybrid glycans in the secreted form MUC1/SEC, and neutral complex-type in the transmembrane form, MUC1/TM.;Phosphorylated on tyrosines and serine residues in the C-terminal. Phosphorylation on tyrosines in the C-terminal increases the nuclear location of MUC1 and beta-catenin. Phosphorylation by PKC delta induces binding of MUC1 to beta-catenin/CTNNB1 and thus decreases the formation of the beta-catenin/E-cadherin complex. Src-mediated phosphorylation inhibits interaction with GSK3B. Src- and EGFR-mediated phosphorylation on Tyr-1229 increases binding to beta-catenin/CTNNB1. GSK3B-mediated phosphorylation on Ser-1227 decreases this interaction but restores the formation of the beta-cadherin/E-cadherin complex. On T-cell receptor activation, phosphorylated by LCK. PDGFR-mediated phosphorylation increases nuclear colocalization of MUC1CT and CTNNB1.;MUC1 is phosphorylated by EGFR (Phosphotyrosine:PTM-0255) NA O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1);Interleukin-4 and Interleukin-13 signaling PE1 1 +NX_P15954 Cytochrome c oxidase subunit 7C, mitochondrial 63 7246 10.29 1 Mitochondrion inner membrane;Mitochondrion NA This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. NA Belongs to the cytochrome c oxidase VIIc family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 5 +NX_P15976 Erythroid transcription factor 413 42751 9.03 0 Nucleoplasm;Nucleus Thrombocytopenia with beta-thalassemia, X-linked;Anemia without thrombocytopenia, X-linked;X-linked dyserythropoietic anemia and thrombocytopenia Transcriptional activator or repressor which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS (PubMed:24245781). Acetylated at 2 conserved lysine-rich motifs by CREBBP in vitro. Acetylation does not affect DNA-binding in vitro but is essential to induce erythroid differentiation and for binding chromatin in vivo (By similarity). Acetylated on Lys-233, Lys-245 Lys-246 by EP300.;Sumoylation on Lys-137 is enhanced by phosphorylation on Ser-142 and by interaction with PIAS4. Sumoylation with SUMO1 has no effect on transcriptional activity (By similarity).;Highly phosphorylated on serine residues. Phosphorylation on Ser-310 is enhanced on erythroid differentiation. Phosphorylation on Ser-142 promotes sumoylation on Lys-137 (By similarity).;GATA1 is phosphorylated by MAPK3 NA Factors involved in megakaryocyte development and platelet production;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 X +NX_P16035 Metalloproteinase inhibitor 2 220 24399 7.46 0 Cytoplasm;Secreted NA Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-8, MMP-9, MMP-10, MMP-13, MMP-14, MMP-15, MMP-16 and MMP-19. The activity of TIMP2 is dependent on the presence of disulfide bonds. Belongs to the protease inhibitor I35 (TIMP) family. Activation of Matrix Metalloproteinases;Neutrophil degranulation PE1 17 +NX_P16050 Arachidonate 15-lipoxygenase 662 74804 6.14 0 Cytosol;Cell membrane;Lipid droplet NA Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Converts arachidonic acid into 12-hydroperoxyeicosatetraenoic acid/12-HPETE and 15-hydroperoxyeicosatetraenoic acid/15-HPETE. Also converts linoleic acid to 13-hydroperoxyoctadecadienoic acid. May also act on (12S)-hydroperoxyeicosatetraenoic acid/(12S)-HPETE to produce hepoxilin A3. Probably plays an important role in the immune and inflammatory responses. Through the oxygenation of membrane-bound phosphatidylethanolamine in macrophages may favor clearance of apoptotic cells during inflammation by resident macrophages and prevent an autoimmune response associated with the clearance of apoptotic cells by inflammatory monocytes. In parallel, may regulate actin polymerization which is crucial for several biological processes, including macrophage function. May also regulate macrophage function through regulation of the peroxisome proliferator activated receptor signaling pathway. Finally, it is also involved in the cellular response to IL13/interleukin-13. In addition to its role in the immune and inflammatory responses, may play a role in epithelial wound healing in the cornea maybe through production of lipoxin A4. May also play a role in endoplasmic reticulum stress response and the regulation of bone mass. NA Belongs to the lipoxygenase family. Lipid metabolism; hydroperoxy eicosatetraenoic acid biosynthesis.;Arachidonic acid metabolism;Linoleic acid metabolism;Metabolic pathways;Synthesis of 15-eicosatetraenoic acid derivatives;Synthesis of Leukotrienes (LT) and Eoxins (EX);Synthesis of 12-eicosatetraenoic acid derivatives;Interleukin-4 and Interleukin-13 signaling;Biosynthesis of DHA-derived SPMs;Biosynthesis of E-series 18(S)-resolvins;Biosynthesis of protectins;Biosynthesis of E-series 18(R)-resolvins;Biosynthesis of DPAn-6 SPMs;Biosynthesis of DPAn-3-derived protectins and resolvins PE1 17 +NX_P16066 Atrial natriuretic peptide receptor 1 1061 118919 6.19 1 Membrane;Nucleoplasm;Nucleolus;Cell membrane NA Receptor for the atrial natriuretic peptide NPPA/ANP and the brain natriuretic peptide NPPB/BNP which are potent vasoactive hormones playing a key role in cardiovascular homeostasis. Has guanylate cyclase activity upon binding of the ligand. Phosphorylation of the protein kinase-like domain is required for full activation by ANP. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Vascular smooth muscle contraction;Physiological factors PE1 1 +NX_P16070 CD44 antigen 742 81538 5.13 1 Golgi apparatus;Microvillus;Cell membrane NA Cell-surface receptor that plays a role in cell-cell interactions, cell adhesion and migration, helping them to sense and respond to changes in the tissue microenvironment (PubMed:16541107, PubMed:19703720, PubMed:22726066). Participates thereby in a wide variety of cellular functions including the activation, recirculation and homing of T-lymphocytes, hematopoiesis, inflammation and response to bacterial infection (PubMed:7528188). Engages, through its ectodomain, extracellular matrix components such as hyaluronan/HA, collagen, growth factors, cytokines or proteases and serves as a platform for signal transduction by assembling, via its cytoplasmic domain, protein complexes containing receptor kinases and membrane proteases (PubMed:18757307, PubMed:23589287). Such effectors include PKN2, the RhoGTPases RAC1 and RHOA, Rho-kinases and phospholipase C that coordinate signaling pathways promoting calcium mobilization and actin-mediated cytoskeleton reorganization essential for cell migration and adhesion (PubMed:15123640). Proteolytically cleaved in the extracellular matrix by specific proteinases (possibly MMPs) in several cell lines and tumors.;N-glycosylated.;O-glycosylated. O-glycosylation contains more-or-less-sulfated chondroitin sulfate glycans, whose number may affect the accessibility of specific proteinases to their cleavage site(s). It is uncertain if O-glycosylation occurs on Thr-637 or Thr-638.;Phosphorylated; activation of PKC results in the dephosphorylation of Ser-706 (constitutive phosphorylation site), and the phosphorylation of Ser-672.;CD44 is phosphorylated by TGFBR1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA ECM-receptor interaction;Hematopoietic cell lineage;Shigellosis;Degradation of the extracellular matrix;Interferon gamma signaling;Hyaluronan uptake and degradation;Integrin cell surface interactions;Cell surface interactions at the vascular wall;Neutrophil degranulation PE1 11 +NX_P16083 Ribosyldihydronicotinamide dehydrogenase [quinone] 231 25919 5.87 0 Nucleoplasm;Cytoplasm;Cytosol NA The enzyme apparently serves as a quinone reductase in connection with conjugation reactions of hydroquinones involved in detoxification pathways as well as in biosynthetic processes such as the vitamin K-dependent gamma-carboxylation of glutamate residues in prothrombin synthesis. NA Belongs to the NAD(P)H dehydrogenase (quinone) family. Phase I - Functionalization of compounds PE1 6 +NX_P16104 Histone H2AX 143 15145 10.74 0 Nucleoplasm;Nucleus speckle;Nucleus;Chromosome NA Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Required for checkpoint-mediated arrest of cell cycle progression in response to low doses of ionizing radiation and for efficient repair of DNA double strand breaks (DSBs) specifically when modified by C-terminal phosphorylation. Acetylation at Lys-37 increases in S and G2 phases. This modification has been proposed to play a role in DNA double-strand break repair (By similarity).;Monoubiquitination of Lys-120 (H2AXK119ub) by RING1 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression (By similarity). Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and 'Lys-63'-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend 'Lys-63'-linked ubiquitin chains in vitro. H2AK119Ub and ionizing radiation-induced 'Lys-63'-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events.;Phosphorylated on Ser-140 (to form gamma-H2AX or H2AX139ph) in response to DNA double strand breaks (DSBs) generated by exogenous genotoxic agents and by stalled replication forks, and may also occur during meiotic recombination events and immunoglobulin class switching in lymphocytes. Phosphorylation can extend up to several thousand nucleosomes from the actual site of the DSB and may mark the surrounding chromatin for recruitment of proteins required for DNA damage signaling and repair. Widespread phosphorylation may also serve to amplify the damage signal or aid repair of persistent lesions. Phosphorylation of Ser-140 (H2AX139ph) in response to ionizing radiation is mediated by both ATM and PRKDC while defects in DNA replication induce Ser-140 phosphorylation (H2AX139ph) subsequent to activation of ATR and PRKDC. Dephosphorylation of Ser-140 by PP2A is required for DNA DSB repair. In meiosis, Ser-140 phosphorylation (H2AX139ph) may occur at synaptonemal complexes during leptotene as an ATM-dependent response to the formation of programmed DSBs by SPO11. Ser-140 phosphorylation (H2AX139ph) may subsequently occurs at unsynapsed regions of both autosomes and the XY bivalent during zygotene, downstream of ATR and BRCA1 activation. Ser-140 phosphorylation (H2AX139ph) may also be required for transcriptional repression of unsynapsed chromatin and meiotic sex chromosome inactivation (MSCI), whereby the X and Y chromosomes condense in pachytene to form the heterochromatic XY-body. During immunoglobulin class switch recombination in lymphocytes, Ser-140 phosphorylation (H2AX139ph) may occur at sites of DNA-recombination subsequent to activation of the activation-induced cytidine deaminase AICDA. Phosphorylation at Tyr-143 (H2AXY142ph) by BAZ1B/WSTF determines the relative recruitment of either DNA repair or pro-apoptotic factors. Phosphorylation at Tyr-143 (H2AXY142ph) favors the recruitment of APBB1/FE65 and pro-apoptosis factors such as MAPK8/JNK1, triggering apoptosis. In contrast, dephosphorylation of Tyr-143 by EYA proteins (EYA1, EYA2, EYA3 or EYA4) favors the recruitment of MDC1-containing DNA repair complexes to the tail of phosphorylated Ser-140 (H2AX139ph). Belongs to the histone H2A family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;RMTs methylate histone arginines;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;G2/M DNA damage checkpoint;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 11 +NX_P16109 P-selectin 830 90834 6.17 1 Cell membrane Ischemic stroke Ca(2+)-dependent receptor for myeloid cells that binds to carbohydrates on neutrophils and monocytes. Mediates the interaction of activated endothelial cells or platelets with leukocytes. The ligand recognized is sialyl-Lewis X. Mediates rapid rolling of leukocyte rolling over vascular surfaces during the initial steps in inflammation through interaction with SELPLG. NA Belongs to the selectin/LECAM family. Cell adhesion molecules (CAMs);Malaria;Staphylococcus aureus infection;Cell surface interactions at the vascular wall;Platelet degranulation PE1 1 +NX_P16112 Aggrecan core protein 2530 261329 4.06 0 Extracellular matrix Spondyloepimetaphyseal dysplasia, aggrecan type;Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans;Spondyloepiphyseal dysplasia type Kimberley This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region. Contains mostly chondroitin sulfate, but also keratan sulfate chains, N-linked and O-linked oligosaccharides. The release of aggrecan fragments from articular cartilage into the synovial fluid at all stages of human osteoarthritis is the result of cleavage by aggrecanase. Belongs to the aggrecan/versican proteoglycan family. Degradation of the extracellular matrix;Keratan sulfate biosynthesis;Defective CHST6 causes MCDC1;Keratan sulfate degradation;Defective B4GALT1 causes B4GALT1-CDG (CDG-2d);ECM proteoglycans;Defective ST3GAL3 causes MCT12 and EIEE15 PE1 15 +NX_P16118 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 471 54681 6.14 0 NA NA Synthesis and degradation of fructose 2,6-bisphosphate. PFKFB1 is phosphorylated by PASK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) In the C-terminal section; belongs to the phosphoglycerate mutase family. Fructose and mannose metabolism;PP2A-mediated dephosphorylation of key metabolic factors;PKA-mediated phosphorylation of key metabolic factors;Regulation of glycolysis by fructose 2,6-bisphosphate metabolism PE1 X +NX_P16144 Integrin beta-4 1822 202167 5.74 1 Cell junction;Hemidesmosome;Cell membrane Epidermolysis bullosa simplex, Weber-Cockayne type;Generalized atrophic benign epidermolysis bullosa;Epidermolysis bullosa letalis, with pyloric atresia Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760). ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). Palmitoylated by DHHC3 at several cysteines of the membrane-proximal region, enhancing stability and cell surface expression. Palmitoylation also promotes secondary association with tertaspanins. Belongs to the integrin beta chain family. Focal adhesion;ECM-receptor interaction;Regulation of actin cytoskeleton;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Syndecan interactions;Assembly of collagen fibrils and other multimeric structures;Type I hemidesmosome assembly;Laminin interactions PE1 17 +NX_P16150 Leukosialin 400 40322 5.01 1 Cell membrane;Membrane;Uropodium;PML body;Microvillus;Nucleus NA CD43 cytoplasmic tail: Protects cells from apoptotic signals, promoting cell survival.;Predominant cell surface sialoprotein of leukocytes which regulates multiple T-cell functions, including T-cell activation, proliferation, differentiation, trafficking and migration. Positively regulates T-cell trafficking to lymph-nodes via its association with ERM proteins (EZR, RDX and MSN) (By similarity). Negatively regulates Th2 cell differentiation and predisposes the differentiation of T-cells towards a Th1 lineage commitment. Promotes the expression of IFN-gamma by T-cells during T-cell receptor (TCR) activation of naive cells and induces the expression of IFN-gamma by CD4(+) T-cells and to a lesser extent by CD8(+) T-cells (PubMed:18036228). Plays a role in preparing T-cells for cytokine sensing and differentiation into effector cells by inducing the expression of cytokine receptors IFNGR and IL4R, promoting IFNGR and IL4R signaling and by mediating the clustering of IFNGR with TCR (PubMed:24328034). Acts as a major E-selectin ligand responsible for Th17 cell rolling on activated vasculature and recruitment during inflammation. Mediates Th17 cells, but not Th1 cells, adhesion to E-selectin. Acts as a T-cell counter-receptor for SIGLEC1 (By similarity). CD43 cytoplasmic tail: Sumoylated.;Glycosylated; has a high content of sialic acid and O-linked carbohydrate structures.;Has a high content of sialic acid and O-linked carbohydrate structures.;Cleavage by CTSG releases its extracellular domain and triggers its intramembrane proteolysis by gamma-secretase releasing the CD43 cytoplasmic tail chain (CD43-ct) which translocates to the nucleus.;Phosphorylation at Ser-355 is regulated by chemokines, requires its association with ERM proteins (EZR, RDX and MSN) and is essential for its function in the regulation of T-cell trafficking to lymph nodes. NA Cell adhesion molecules (CAMs);Cell surface interactions at the vascular wall;Basigin interactions PE1 16 +NX_P16152 Carbonyl reductase [NADPH] 1 277 30375 8.55 0 Nucleoplasm;Cytosol;Cytoplasm NA NADPH-dependent reductase with broad substrate specificity. Catalyzes the reduction of a wide variety of carbonyl compounds including quinones, prostaglandins, menadione, plus various xenobiotics. Catalyzes the reduction of the antitumor anthracyclines doxorubicin and daunorubicin to the cardiotoxic compounds doxorubicinol and daunorubicinol. Can convert prostaglandin E2 to prostaglandin F2-alpha. Can bind glutathione, which explains its higher affinity for glutathione-conjugated substrates. Catalyzes the reduction of S-nitrosoglutathione. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Arachidonic acid metabolism;Metabolism of xenobiotics by cytochrome P450;Metabolic pathways;Synthesis of Prostaglandins (PG) and Thromboxanes (TX) PE1 21 +NX_P16157 Ankyrin-1 1881 206265 5.65 0 Membrane;Sarcoplasmic reticulum;M line;Cytoskeleton Spherocytosis 1 Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions.;Together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils. Palmitoylated.;Regulated by phosphorylation.;Hydroxylated by HIF1AN at several asparagine and 1 aspartate residue within ANK repeat region. Hydroxylation seems to increase the conformational stability of this region and may also modulate protein-protein interactions mediated by the ANK repeat region. NA Interaction between L1 and Ankyrins;CHL1 interactions;NrCAM interactions;Neurofascin interactions;COPI-mediated anterograde transport PE1 8 +NX_P16219 Short-chain specific acyl-CoA dehydrogenase, mitochondrial 412 44297 8.13 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion Acyl-CoA dehydrogenase short-chain deficiency Short-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (By similarity). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (By similarity). Among the different mitochondrial acyl-CoA dehydrogenases, short-chain specific acyl-CoA dehydrogenase acts specifically on acyl-CoAs with saturated 4 to 6 carbons long primary chains (PubMed:21237683, PubMed:11134486). NA Belongs to the acyl-CoA dehydrogenase family. Lipid metabolism; mitochondrial fatty acid beta-oxidation.;Fatty acid metabolism;Valine, leucine and isoleucine degradation;Butanoate metabolism;Metabolic pathways;Beta oxidation of hexanoyl-CoA to butanoyl-CoA;Beta oxidation of butanoyl-CoA to acetyl-CoA PE1 12 +NX_P16220 Cyclic AMP-responsive element-binding protein 1 341 36688 5.46 0 Nucleoplasm;Nucleus Angiomatoid fibrous histiocytoma Phosphorylation-dependent transcription factor that stimulates transcription upon binding to the DNA cAMP response element (CRE), a sequence present in many viral and cellular promoters. Transcription activation is enhanced by the TORC coactivators which act independently of Ser-133 phosphorylation. Involved in different cellular processes including the synchronization of circadian rhythmicity and the differentiation of adipose cells. Sumoylated with SUMO1. Sumoylation on Lys-304, but not on Lys-285, is required for nuclear localization of this protein. Sumoylation is enhanced under hypoxia, promoting nuclear localization and stabilization.;Stimulated by phosphorylation. Phosphorylation of both Ser-133 and Ser-142 in the SCN regulates the activity of CREB and participates in circadian rhythm generation. Phosphorylation of Ser-133 allows CREBBP binding. In liver, phosphorylation is induced by fasting or glucagon in a circadian fashion (By similarity). CREBL2 positively regulates phosphorylation at Ser-133 thereby stimulating CREB1 transcriptional activity (By similarity). Phosphorylated upon calcium influx by CaMK4 and CaMK2 on Ser-133. CaMK4 is much more potent than CaMK2 in activating CREB. Phosphorylated by CaMK2 on Ser-142. Phosphorylation of Ser-142 blocks CREB-mediated transcription even when Ser-133 is phosphorylated. Phosphorylated by CaMK1 (By similarity). Phosphorylation of Ser-271 by HIPK2 in response to genotoxic stress promotes CREB1 activity, facilitating the recruitment of the coactivator CBP. Phosphorylated at Ser-133 by RPS6KA3, RPS6KA4 and RPS6KA5 in response to mitogenic or stress stimuli. Phosphorylated by TSSK4 on Ser-133 (PubMed:15964553).;CREB1 is phosphorylated by SGK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the bZIP family. Osteoclast differentiation;Antigen processing and presentation;Cholinergic synapse;Dopaminergic synapse;Melanogenesis;Vasopressin-regulated water reabsorption;Huntington's disease;Tuberculosis;HTLV-I infection;Prostate cancer;CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling;NOTCH2 intracellular domain regulates transcription;AKT phosphorylates targets in the nucleus;Constitutive Signaling by AKT1 E17K in Cancer;Gastrin-CREB signalling pathway via PKC and MAPK;NCAM signaling for neurite out-growth;CREB phosphorylation;PKA-mediated phosphorylation of CREB;CREB1 phosphorylation through the activation of Adenylate Cyclase;CaMK IV-mediated phosphorylation of CREB;Regulation of MECP2 expression and activity;MECP2 regulates neuronal receptors and channels;MECP2 regulates transcription of neuronal ligands;MECP2 regulates transcription factors;Estrogen-dependent nuclear events downstream of ESR-membrane signaling;Transcriptional regulation of granulopoiesis PE1 2 +NX_P16233 Pancreatic triacylglycerol lipase 465 51157 6.27 0 Secreted Pancreatic lipase deficiency NA NA Belongs to the AB hydrolase superfamily. Lipase family. Glycerolipid metabolism;Metabolic pathways;Pancreatic secretion;Fat digestion and absorption;Vitamin digestion and absorption;Retinoid metabolism and transport;Digestion of dietary lipid PE1 10 +NX_P16234 Platelet-derived growth factor receptor alpha 1089 122670 5.05 1 Golgi apparatus;Cell membrane;Cell junction;Cilium;Nucleoplasm Gastrointestinal stromal tumor Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development and cephalic closure during embryonic development. Required for normal development of the mucosa lining the gastrointestinal tract, and for recruitment of mesenchymal cells and normal development of intestinal villi. Plays a role in cell migration and chemotaxis in wound healing. Plays a role in platelet activation, secretion of agonists from platelet granules, and in thrombin-induced platelet aggregation. Binding of its cognate ligands - homodimeric PDGFA, homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFC -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PIK3R1, PLCG1, and PTPN11. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylates PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and thereby mediates activation of the AKT1 signaling pathway. Mediates activation of HRAS and of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3 and STAT5A and/or STAT5B. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor. Ubiquitinated, leading to its internalization and degradation.;Autophosphorylated on tyrosine residues upon ligand binding. Autophosphorylation occurs in trans, i.e. One subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-731 and Tyr-742 is important for interaction with PIK3R1. Phosphorylation at Tyr-720 and Tyr-754 is important for interaction with PTPN11. Phosphorylation at Tyr-762 is important for interaction with CRK. Phosphorylation at Tyr-572 and Tyr-574 is important for interaction with SRC and SRC family members. Phosphorylation at Tyr-988 and Tyr-1018 is important for interaction with PLCG1.;N-glycosylated. Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. MAPK signaling pathway;Calcium signaling pathway;Cytokine-cytokine receptor interaction;Endocytosis;Focal adhesion;Gap junction;Regulation of actin cytoskeleton;HTLV-I infection;Pathways in cancer;Glioma;Prostate cancer;Melanoma;RAF/MAP kinase cascade;Signaling by PDGF;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Downstream signal transduction;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 4 +NX_P16260 Graves disease carrier protein 332 36224 9.87 6 Mitochondrion inner membrane;Mitochondrion NA Required for the accumulation of coenzyme A in the mitochondrial matrix. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Coenzyme A biosynthesis PE1 10 +NX_P16278 Beta-galactosidase 677 76075 6.1 0 Golgi apparatus;Cytoplasmic vesicle;Perinuclear region;Lysosome Mucopolysaccharidosis 4B;GM1-gangliosidosis 1;GM1-gangliosidosis 3;GM1-gangliosidosis 2 Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.;Has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers. NA Belongs to the glycosyl hydrolase 35 family. Galactose metabolism;Other glycan degradation;Glycosaminoglycan degradation;Sphingolipid metabolism;Glycosphingolipid biosynthesis - ganglio series;Metabolic pathways;Lysosome;Sialic acid metabolism;Glycosphingolipid metabolism;Defective NEU1 causes sialidosis;Keratan sulfate degradation;HS-GAG degradation;MPS IV - Morquio syndrome B;Neutrophil degranulation PE1 3 +NX_P16284 Platelet endothelial cell adhesion molecule 738 82522 6.55 1 Cell junction;Membrane raft;Cell membrane NA Cell adhesion molecule which is required for leukocyte transendothelial migration (TEM) under most inflammatory conditions (PubMed:19342684, PubMed:17580308). Tyr-690 plays a critical role in TEM and is required for efficient trafficking of PECAM1 to and from the lateral border recycling compartment (LBRC) and is also essential for the LBRC membrane to be targeted around migrating leukocytes (PubMed:19342684). Trans-homophilic interaction may play a role in endothelial cell-cell adhesion via cell junctions (PubMed:27958302). Heterophilic interaction with CD177 plays a role in transendothelial migration of neutrophils (PubMed:17580308). Homophilic ligation of PECAM1 prevents macrophage-mediated phagocytosis of neighboring viable leukocytes by transmitting a detachment signal (PubMed:12110892). Promotes macrophage-mediated phagocytosis of apoptotic leukocytes by tethering them to the phagocytic cells; PECAM1-mediated detachment signal appears to be disabled in apoptotic leukocytes (PubMed:12110892). Modulates bradykinin receptor BDKRB2 activation (PubMed:18672896). Regulates bradykinin- and hyperosmotic shock-induced ERK1/2 activation in endothelial cells (PubMed:18672896). Induces susceptibility to atherosclerosis (By similarity).;Does not protect against apoptosis. Palmitoylation by ZDHHC21 is necessary for cell surface expression in endothelial cells and enrichment in membrane rafts.;Phosphorylated on Ser and Tyr residues after cellular activation by src kinases (PubMed:21464369, PubMed:9298995, PubMed:19342684, PubMed:18710921). Upon activation, phosphorylated on Ser-729 which probably initiates the dissociation of the membrane-interaction segment (residues 709-729) from the cell membrane allowing the sequential phosphorylation of Tyr-713 and Tyr-690 (PubMed:21464369). Constitutively phosphorylated on Ser-734 in resting platelets (PubMed:21464369). Phosphorylated on tyrosine residues by FER and FES in response to FCER1 activation (By similarity). In endothelial cells Fyn mediates mechanical-force (stretch or pull) induced tyrosine phosphorylation (PubMed:18710921).;PECAM1 is phosphorylated by MATK (Phosphotyrosine:PTM-0255) NA Cell adhesion molecules (CAMs);Leukocyte transendothelial migration;Malaria;Integrin cell surface interactions;Cell surface interactions at the vascular wall;Platelet degranulation;PECAM1 interactions;Platelet sensitization by LDL;Neutrophil degranulation PE1 17 +NX_P16298 Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform 524 59024 5.6 0 Cytoplasm;Mitochondrion NA Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals (PubMed:19154138, PubMed:26794871). Dephosphorylates and activates transcription factor NFATC1 (PubMed:19154138). Dephosphorylates and inactivates transcription factor ELK1 (PubMed:19154138). Dephosphorylates DARPP32 (PubMed:19154138). NA Belongs to the PPP phosphatase family. PP-2B subfamily. MAPK signaling pathway;Calcium signaling pathway;Oocyte meiosis;Apoptosis;Wnt signaling pathway;Axon guidance;VEGF signaling pathway;Osteoclast differentiation;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Long-term potentiation;Glutamatergic synapse;Dopaminergic synapse;Alzheimer's disease;Amyotrophic lateral sclerosis (ALS);Tuberculosis;HTLV-I infection;FCERI mediated Ca+2 mobilization;DARPP-32 events;Ca2+ pathway;CLEC7A (Dectin-1) induces NFAT activation;Calcineurin activates NFAT;ROBO receptors bind AKAP5 PE1 10 +NX_P16333 Cytoplasmic protein NCK1 377 42864 6.06 0 Cytoplasm;Cell membrane;Endoplasmic reticulum;Cytosol;Nucleus NA Adapter protein which associates with tyrosine-phosphorylated growth factor receptors, such as KDR and PDGFRB, or their cellular substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a role in the DNA damage response, not in the detection of the damage by ATM/ATR, but for efficient activation of downstream effectors, such as that of CHEK2. Plays a role in ELK1-dependent transcriptional activation in response to activated Ras signaling. Modulates the activation of EIF2AK2/PKR by dsRNA. May play a role in cell adhesion and migration through interaction with ephrin receptors. Phosphorylated on Ser and Tyr residues. Phosphorylated in response to activation of EGFR and FcERI. Phosphorylated by activated PDGFRB.;NCK1 is phosphorylated by FYN (Phosphotyrosine:PTM-0255);NCK1 is phosphorylated by PAK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA ErbB signaling pathway;Axon guidance;T cell receptor signaling pathway;Pathogenic Escherichia coli infection;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;Generation of second messenger molecules;VEGFA-VEGFR2 Pathway;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Nephrin family interactions;DCC mediated attractive signaling;Activation of RAC1;Downstream signal transduction PE1 3 +NX_P16383 GC-rich sequence DNA-binding factor 2 781 89385 5.71 0 Nucleoplasm;Nucleolus NA Factor that represses transcription. It binds to the GC-rich sequences (5'-GCGGGGC-3') present in the epidermal growth factor receptor, beta-actin, and calcium-dependent protease promoters. Involved in pre-mRNA splicing through regulating spliceosome C complex formation. May play a role during late-stage splicing events and turnover of excised inrons. NA Belongs to the GCF family. mRNA Splicing - Major Pathway PE1 2 +NX_P16389 Potassium voltage-gated channel subfamily A member 2 499 56717 4.78 6 Endoplasmic reticulum membrane;Presynaptic cell membrane;Synaptosome;Cell membrane;Lamellipodium membrane;Membrane;Synapse;Paranodal septate junction;Axon;Dendrite Epileptic encephalopathy, early infantile, 32 Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the cardiovascular system. Prevents aberrant action potential firing and regulates neuronal output. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:19912772, PubMed:8495559, PubMed:11211111, PubMed:23769686). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNA7, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:8495559, PubMed:20220134). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation of delayed rectifier potassium channels. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA2 forms a delayed-rectifier potassium channel that opens in response to membrane depolarization, followed by slow spontaneous channel closure (PubMed:19912772, PubMed:23769686). In contrast, a heteromultimer formed by KCNA2 and KCNA4 shows rapid inactivation (PubMed:8495559). Regulates neuronal excitability and plays a role as pacemaker in the regulation of neuronal action potentials (By similarity). KCNA2-containing channels play a presynaptic role and prevent hyperexcitability and aberrant action potential firing (By similarity). Response to toxins that are selective for KCNA2-containing potassium channels suggests that in Purkinje cells, dendritic subthreshold KCNA2-containing potassium channels prevent random spontaneous calcium spikes, suppressing dendritic hyperexcitability without hindering the generation of somatic action potentials, and thereby play an important role in motor coordination (By similarity). Plays a role in the induction of long-term potentiation of neuron excitability in the CA3 layer of the hippocampus (By similarity). May function as down-stream effector for G protein-coupled receptors and inhibit GABAergic inputs to basolateral amygdala neurons (By similarity). May contribute to the regulation of neurotransmitter release, such as gamma-aminobutyric acid (GABA) (By similarity). Contributes to the regulation of the axonal release of the neurotransmitter dopamine (By similarity). Reduced KCNA2 expression plays a role in the perception of neuropathic pain after peripheral nerve injury, but not acute pain (By similarity). Plays a role in the regulation of the time spent in non-rapid eye movement (NREM) sleep (By similarity). Phosphorylated on tyrosine residues; phosphorylation increases in response to ischemia (By similarity). Phosphorylated on tyrosine residues by activated PTK2B/PYK2 (By similarity). Phosphorylation on tyrosine residues suppresses ion channel activity (By similarity). Phosphorylated on tyrosine residues in response to CHRM1 activation; this abolishes interaction with CTTN. This is probably due to endocytosis of the phosphorylated channel subunits (By similarity). Phosphorylated on serine residues in response to increased cAMP levels; phosphorylation is apparently not catalyzed by PKA (By similarity).;N-glycosylated, with complex, sialylated N-glycans. Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.2/KCNA2 sub-subfamily. Voltage gated Potassium channels PE1 1 +NX_P16401 Histone H1.5 226 22580 10.91 0 Nucleoplasm;Nucleus;Chromosome NA Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity). Citrullination at Arg-57 (H1R54ci) by PADI4 takes place within the DNA-binding site of H1 and results in its displacement from chromatin and global chromatin decondensation, thereby promoting pluripotency and stem cell maintenance.;H1 histones are progressively phosphorylated during the cell cycle, becoming maximally phosphorylated during late G2 phase and M phase, and being dephosphorylated sharply thereafter (By similarity). Phosphorylated at Thr-11 by GSK3B during mitosis in prometaphase and dephosphorylated in telophase. Belongs to the histone H1/H5 family. Formation of Senescence-Associated Heterochromatin Foci (SAHF);Apoptosis induced DNA fragmentation PE1 6 +NX_P16402 Histone H1.3 221 22350 11.02 0 Nucleus;Chromosome NA Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity). H1 histones are progressively phosphorylated during the cell cycle, becoming maximally phosphorylated during late G2 phase and M phase, and being dephosphorylated sharply thereafter.;Citrullination at Arg-55 (H1R54ci) by PADI4 takes place within the DNA-binding site of H1 and results in its displacement from chromatin and global chromatin decondensation, thereby promoting pluripotency and stem cell maintenance. Belongs to the histone H1/H5 family. Formation of Senescence-Associated Heterochromatin Foci (SAHF);Apoptosis induced DNA fragmentation PE1 6 +NX_P16403 Histone H1.2 213 21365 10.94 0 Nucleoplasm;Nucleolus;Nucleus;Chromosome NA Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity). H1 histones are progressively phosphorylated during the cell cycle, becoming maximally phosphorylated during late G2 phase and M phase, and being dephosphorylated sharply thereafter.;Citrullination at Arg-54 (H1R54ci) by PADI4 takes place within the DNA-binding site of H1 and results in its displacement from chromatin and global chromatin decondensation, thereby promoting pluripotency and stem cell maintenance.;ADP-ribosylated on Ser-188 in response to DNA damage.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes. Belongs to the histone H1/H5 family. Formation of Senescence-Associated Heterochromatin Foci (SAHF);Apoptosis induced DNA fragmentation PE1 6 +NX_P16410 Cytotoxic T-lymphocyte protein 4 223 24656 6.7 1 Cell membrane Celiac disease 3;Autoimmune lymphoproliferative syndrome 5;Systemic lupus erythematosus;Diabetes mellitus, insulin-dependent, 12 Inhibitory receptor acting as a major negative regulator of T-cell responses. The affinity of CTLA4 for its natural B7 family ligands, CD80 and CD86, is considerably stronger than the affinity of their cognate stimulatory coreceptor CD28. Phosphorylation at Tyr-201 prevents binding to the AP-2 adapter complex, blocks endocytosis, and leads to retention of CTLA4 on the cell surface.;N-glycosylation is important for dimerization. NA Cell adhesion molecules (CAMs);T cell receptor signaling pathway;Autoimmune thyroid disease;Rheumatoid arthritis;CTLA4 inhibitory signaling;RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) PE1 2 +NX_P16415 Zinc finger protein 823 610 70270 9.04 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_P16422 Epithelial cell adhesion molecule 314 34932 7.42 1 Tight junction;Lateral cell membrane;Cell membrane Diarrhea 5, with tufting enteropathy, congenital;Hereditary non-polyposis colorectal cancer 8 May act as a physical homophilic interaction molecule between intestinal epithelial cells (IECs) and intraepithelial lymphocytes (IELs) at the mucosal epithelium for providing immunological barrier as a first line of defense against mucosal infection. Plays a role in embryonic stem cells proliferation and differentiation. Up-regulates the expression of FABP5, MYC and cyclins A and E. Hyperglycosylated in carcinoma tissue as compared with autologous normal epithelia. Glycosylation at Asn-198 is crucial for protein stability. Belongs to the EPCAM family. Cell surface interactions at the vascular wall PE1 2 +NX_P16435 NADPH--cytochrome P450 reductase 677 76690 5.38 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleoplasm;Cytoplasmic vesicle;Cytosol Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis;Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5. NA In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.;Belongs to the NADPH--cytochrome P450 reductase family.;In the N-terminal section; belongs to the flavodoxin family. Cytochrome P450 - arranged by substrate type PE1 7 +NX_P16442 Histo-blood group ABO system transferase 354 40934 9.14 1 Golgi stack membrane;Secreted NA This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three carbohydrate antigens: A, B, and H. A, B, and AB individuals express a glycosyltransferase activity that converts the H antigen to the A antigen (by addition of UDP-GalNAc) or to the B antigen (by addition of UDP-Gal), whereas O individuals lack such activity. The soluble form derives from the membrane form by proteolytic processing. Belongs to the glycosyltransferase 6 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;ABO blood group biosynthesis PE1 9 +NX_P16444 Dipeptidase 1 411 45674 5.75 0 Nucleoplasm;Apical cell membrane;Cell junction;Microvillus membrane NA Hydrolyzes a wide range of dipeptides. Implicated in the renal metabolism of glutathione and its conjugates. Converts leukotriene D4 to leukotriene E4; it may play an important role in the regulation of leukotriene activity. NA Belongs to the metallo-dependent hydrolases superfamily. Peptidase M19 family. Aflatoxin activation and detoxification;Synthesis of Leukotrienes (LT) and Eoxins (EX) PE1 16 +NX_P16452 Erythrocyte membrane protein band 4.2 691 77009 8.39 0 Nucleoplasm;Cytosol;Cytoskeleton;Cell membrane Spherocytosis 5 Probably plays an important role in the regulation of erythrocyte shape and mechanical properties. Both cAMP-dependent kinase (CAPK) and another kinase present in the red-blood cells seem to be able to phosphorylate EPB42. Belongs to the transglutaminase superfamily. Transglutaminase family. NA PE1 15 +NX_P16455 Methylated-DNA--protein-cysteine methyltransferase 207 21646 8.28 0 Nucleoplasm;Nucleus NA Involved in the cellular defense against the biological effects of O6-methylguanine (O6-MeG) and O4-methylthymine (O4-MeT) in DNA. Repairs the methylated nucleobase in DNA by stoichiometrically transferring the methyl group to a cysteine residue in the enzyme. This is a suicide reaction: the enzyme is irreversibly inactivated. NA Belongs to the MGMT family. MGMT-mediated DNA damage reversal PE1 10 +NX_P16471 Prolactin receptor 622 69506 5.23 1 Membrane;Secreted Hyperprolactinemia;Multiple fibroadenomas of the breast Is unable to transduce prolactin signaling.;Is unable to transduce prolactin signaling.;This is a receptor for the anterior pituitary hormone prolactin (PRL). Acts as a prosurvival factor for spermatozoa by inhibiting sperm capacitation through suppression of SRC kinase activation and stimulation of AKT. NA Belongs to the type I cytokine receptor family. Type 1 subfamily. Cytokine-cytokine receptor interaction;Neuroactive ligand-receptor interaction;Jak-STAT signaling pathway;Prolactin receptor signaling;Growth hormone receptor signaling PE1 5 +NX_P16473 Thyrotropin receptor 764 86830 6.56 7 Basolateral cell membrane;Cell membrane Hyperthyroidism, non-autoimmune;Familial gestational hyperthyroidism;Hypothyroidism, congenital, non-goitrous, 1 Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin (PubMed:11847099, PubMed:12045258). Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin (PubMed:12045258). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099). Plays a central role in controlling thyroid cell metabolism (By similarity). Sulfated. Sulfation on Tyr-385 plays a role in thyrotropin receptor binding and activation.;Glycosylated. Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. Neuroactive ligand-receptor interaction;Autoimmune thyroid disease;G alpha (s) signalling events;Hormone ligand-binding receptors PE1 14 +NX_P16499 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha 860 99547 5.48 0 Cell membrane Retinitis pigmentosa 43 This protein participates in processes of transmission and amplification of the visual signal. NA Belongs to the cyclic nucleotide phosphodiesterase family. Purine metabolism;Phototransduction;Activation of the phototransduction cascade;Inactivation, recovery and regulation of the phototransduction cascade;Ca2+ pathway PE1 5 +NX_P16519 Neuroendocrine convertase 2 638 70565 6.04 0 Cytoplasmic vesicle;Secreted;Secretory vesicle NA Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Responsible for the release of glucagon from proglucagon in pancreatic A cells. NA Belongs to the peptidase S8 family. Furin subfamily. Insulin processing PE1 20 +NX_P16520 Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 340 37221 5.39 0 NA Night blindness, congenital stationary, 1H Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. NA Belongs to the WD repeat G protein beta family. Chemokine signaling pathway;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Taste transduction;G alpha (i) signalling events;G alpha (q) signalling events;G alpha (s) signalling events;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);G beta:gamma signalling through PI3Kgamma;G alpha (12/13) signalling events;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G-protein activation;ADP signalling through P2Y purinoceptor 12;Prostacyclin signalling through prostacyclin receptor;Adrenaline,noradrenaline inhibits insulin secretion;Ca2+ pathway;G beta:gamma signalling through PLC beta;ADP signalling through P2Y purinoceptor 1;G alpha (z) signalling events;Glucagon-type ligand receptors;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Presynaptic function of Kainate receptors;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling;G beta:gamma signalling through BTK;G beta:gamma signalling through CDC42 PE1 12 +NX_P16562 Cysteine-rich secretory protein 2 243 27259 6.09 0 Secreted NA May regulate some ion channels' activity and therebye regulate calcium fluxes during sperm capacitation. NA Belongs to the CRISP family. NA PE1 6 +NX_P16581 E-selectin 610 66655 5.2 1 Cell membrane NA Cell-surface glycoprotein having a role in immunoadhesion. Mediates in the adhesion of blood neutrophils in cytokine-activated endothelium through interaction with SELPLG/PSGL1. May have a role in capillary morphogenesis. NA Belongs to the selectin/LECAM family. Cell adhesion molecules (CAMs);African trypanosomiasis;Malaria;Cell surface interactions at the vascular wall PE1 1 +NX_P16591 Tyrosine-protein kinase Fer 822 94638 6.72 0 Cytoplasm;Cell cortex;Cell membrane;Cell junction;Cell projection;Membrane;Cytosol;Nucleus;Cytoskeleton NA Tyrosine-protein kinase that acts downstream of cell surface receptors for growth factors and plays a role in the regulation of the actin cytoskeleton, microtubule assembly, lamellipodia formation, cell adhesion, cell migration and chemotaxis. Acts downstream of EGFR, KIT, PDGFRA and PDGFRB. Acts downstream of EGFR to promote activation of NF-kappa-B and cell proliferation. May play a role in the regulation of the mitotic cell cycle. Plays a role in the insulin receptor signaling pathway and in activation of phosphatidylinositol 3-kinase. Acts downstream of the activated FCER1 receptor and plays a role in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Plays a role in the regulation of mast cell degranulation. Plays a role in leukocyte recruitment and diapedesis in response to bacterial lipopolysaccharide (LPS). Plays a role in synapse organization, trafficking of synaptic vesicles, the generation of excitatory postsynaptic currents and neuron-neuron synaptic transmission. Plays a role in neuronal cell death after brain damage. Phosphorylates CTTN, CTNND1, PTK2/FAK1, GAB1, PECAM1 and PTPN11. May phosphorylate JUP and PTPN1. Can phosphorylate STAT3, but the biological relevance of this depends on cell type and stimulus. Polyubiquitinated; this leads to proteasomal degradation.;Autophosphorylated.;Autophosphorylated (Phosphotyrosine:PTM-0255);FER is phosphorylated by LYN (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. Fes/fps subfamily. Adherens junction;Signaling by SCF-KIT PE1 5 +NX_P16615 Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 1042 114757 5.23 10 Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane Darier disease;Acrokeratosis verruciformis This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen.;Is involved in the regulation of the contraction/relaxation cycle (PubMed:16402920). Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with TMEM64 which is critical for the TNFSF11-induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic Ca (2+) spiking for activation of NFATC1 and production of mitochondrial ROS, thereby triggering Ca (2+) signaling cascades that promote osteoclast differentiation and activation (By similarity). Nitrated under oxidative stress. Nitration on the two tyrosine residues inhibits catalytic activity. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. Calcium signaling pathway;Cardiac muscle contraction;Pancreatic secretion;Alzheimer's disease;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Ion transport by P-type ATPases;Pre-NOTCH Processing in Golgi;Reduction of cytosolic Ca++ levels;Ion homeostasis PE1 12 +NX_P16619 C-C motif chemokine 3-like 1 93 10161 4.77 0 Secreted NA Chemotactic for lymphocytes and monocytes. Is a ligand for CCR1, CCR3 and CCR5. Is an inhibitor of HIV-1-infection. The processed form LD78-beta(3-70) shows a 20-fold to 30-fold higher chemotactic activity and is a very potent inhibitor of HIV-1-infection. LD78-beta(3-70) is also a ligand for CCR1, CCR3 and CCR5. The N-terminal processed forms LD78-beta(3-70) and LD78-beta(5-70) are produced by proteolytic cleavage after secretion from peripheral blood monocytes. The cleavage to yield LD78-beta(3-70) is probably achieved by DPP4. Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Salmonella infection;Chagas disease (American trypanosomiasis);Rheumatoid arthritis;Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Salmonella infection;Chagas disease (American trypanosomiasis);Rheumatoid arthritis;Interleukin-10 signaling PE1 17 +NX_P16662 UDP-glucuronosyltransferase 2B7 529 60721 8.54 1 Microsome membrane;Endoplasmic reticulum membrane NA UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds.;Its unique specificity for 3,4-catechol estrogens and estriol suggests it may play an important role in regulating the level and activity of these potent and active estrogen metabolites. Is also active with androsterone, hyodeoxycholic acid and tetrachlorocatechol (in vitro). NA Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Glucuronidation PE1 4 +NX_P16671 Platelet glycoprotein 4 472 53053 8.19 2 Golgi apparatus;Apical cell membrane;Membrane raft;Cell membrane Coronary heart disease 7;Platelet glycoprotein IV deficiency (Microbial infection) Directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and the internalization of particles independently of TLR signaling.;Multifunctional glycoprotein that acts as receptor for a broad range of ligands. Ligands can be of proteinaceous nature like thrombospondin, fibronectin, collagen or amyloid-beta as well as of lipidic nature such as oxidized low-density lipoprotein (oxLDL), anionic phospholipids, long-chain fatty acids and bacterial diacylated lipopeptides. They are generally multivalent and can therefore engage multiple receptors simultaneously, the resulting formation of CD36 clusters initiates signal transduction and internalization of receptor-ligand complexes. The dependency on coreceptor signaling is strongly ligand specific. Cellular responses to these ligands are involved in angiogenesis, inflammatory response, fatty acid metabolism, taste and dietary fat processing in the intestine (Probable). Binds long-chain fatty acids and facilitates their transport into cells, thus participating in muscle lipid utilization, adipose energy storage, and gut fat absorption (By similarity) (PubMed:18353783, PubMed:21610069). In the small intestine, plays a role in proximal absorption of dietary fatty acid and cholesterol for optimal chylomicron formation, possibly through the activation of MAPK1/3 (ERK1/2) signaling pathway (By similarity) (PubMed:18753675). Involved in oral fat perception and preferences (PubMed:22240721, PubMed:25822988). Detection into the tongue of long-chain fatty acids leads to a rapid and sustained rise in flux and protein content of pancreatobiliary secretions (By similarity). In taste receptor cells, mediates the induction of an increase in intracellular calcium levels by long-chain fatty acids, leading to the activation of the gustatory neurons in the nucleus of the solitary tract (By similarity). Important factor in both ventromedial hypothalamus neuronal sensing of long-chain fatty acid and the regulation of energy and glucose homeostasis (By similarity). Receptor for thombospondins, THBS1 and THBS2, mediating their antiangiogenic effects (By similarity). As a coreceptor for TLR4:TLR6 heterodimer, promotes inflammation in monocytes/macrophages. Upon ligand binding, such as oxLDL or amyloid-beta 42, interacts with the heterodimer TLR4:TLR6, the complex is internalized and triggers inflammatory response, leading to NF-kappa-B-dependent production of CXCL1, CXCL2 and CCL9 cytokines, via MYD88 signaling pathway, and CCL5 cytokine, via TICAM1 signaling pathway, as well as IL1B secretion, through the priming and activation of the NLRP3 inflammasome (By similarity) (PubMed:20037584). Selective and nonredundant sensor of microbial diacylated lipopeptide that signal via TLR2:TLR6 heterodimer, this cluster triggers signaling from the cell surface, leading to the NF-kappa-B-dependent production of TNF, via MYD88 signaling pathway and subsequently is targeted to the Golgi in a lipid-raft dependent pathway (By similarity) (PubMed:16880211). Ubiquitinated at Lys-469 and Lys-472. Ubiquitination is induced by fatty acids such as oleic acid and leads to degradation by the proteasome (PubMed:21610069, PubMed:18353783). Ubiquitination and degradation are inhibited by insulin which blocks the effect of fatty acids (PubMed:18353783).;N-glycosylated and O-glycosylated with a ratio of 2:1. Belongs to the CD36 family. PPAR signaling pathway;Phagosome;ECM-receptor interaction;Hematopoietic cell lineage;Adipocytokine signaling pathway;Fat digestion and absorption;Malaria;ER-Phagosome pathway;PPARA activates gene expression;MyD88:MAL(TIRAP) cascade initiated on plasma membrane;MyD88 deficiency (TLR2/4);IRAK4 deficiency (TLR2/4);Platelet degranulation;Transcriptional regulation of white adipocyte differentiation;Cross-presentation of particulate exogenous antigens (phagosomes);Toll Like Receptor TLR6:TLR2 Cascade;Scavenging by Class B Receptors;Regulation of TLR by endogenous ligand;Neutrophil degranulation;Interleukin-4 and Interleukin-13 signaling;Intracellular metabolism of fatty acids regulates insulin secretion PE1 7 +NX_P16860 Natriuretic peptides B 134 14726 10.34 0 Secreted NA Cardiac hormone which may function as a paracrine antifibrotic factor in the heart. Also plays a key role in cardiovascular homeostasis through natriuresis, diuresis, vasorelaxation, and inhibition of renin and aldosterone secretion. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3. The brain natriuretic peptide 32 form is cleaved at Pro-104 by the prolyl endopeptidase FAP (seprase) activity (in vitro). Belongs to the natriuretic peptide family. NA PE1 1 +NX_P16870 Carboxypeptidase E 476 53151 5.03 0 Secreted;Nucleoplasm;Secretory vesicle membrane;Centrosome;Cytoplasmic vesicle;Secretory vesicle;Nucleus NA Sorting receptor that directs prohormones to the regulated secretory pathway. Acts also as a prohormone processing enzyme in neuro/endocrine cells, removing dibasic residues from the C-terminal end of peptide hormone precursors after initial endoprotease cleavage. NA Belongs to the peptidase M14 family. Type I diabetes mellitus;Insulin processing PE1 4 +NX_P16871 Interleukin-7 receptor subunit alpha 459 51579 5.27 1 Centriolar satellite;Secreted;Cell membrane Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive;Multiple sclerosis 3 Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP). N-glycosylated IL-7Ralpha binds IL7 300-fold more tightly than the unglycosylated form. Belongs to the type I cytokine receptor family. Type 4 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Hematopoietic cell lineage;Primary immunodeficiency;Interleukin-7 signaling;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 5 +NX_P16885 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 1265 147870 6.21 0 Cytoplasmic vesicle Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated;Familial cold autoinflammatory syndrome 3 The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a crucial enzyme in transmembrane signaling. Phosphorylated on tyrosine residues by CSF1R (By similarity). Phosphorylated on tyrosine residues by BTK and SYK; upon ligand-induced activation of a variety of growth factor receptors and immune system receptors. Phosphorylation leads to increased phospholipase activity.;PLCG2 is phosphorylated by MERTK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Inositol phosphate metabolism;Metabolic pathways;ErbB signaling pathway;Calcium signaling pathway;Phosphatidylinositol signaling system;VEGF signaling pathway;Osteoclast differentiation;Natural killer cell mediated cytotoxicity;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Pathways in cancer;Glioma;Non-small cell lung cancer;CLEC7A (Dectin-1) signaling;GPVI-mediated activation cascade;DAP12 signaling;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Toll Like Receptor 4 (TLR4) Cascade;Dectin-2 family;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Synthesis of IP3 and IP4 in the cytosol;Erythropoietin activates Phospholipase C gamma (PLCG) PE1 16 +NX_P16930 Fumarylacetoacetase 419 46374 6.46 0 Cytosol Tyrosinemia 1 NA NA Belongs to the FAH family. Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 6/6.;Tyrosine metabolism;Metabolic pathways;Tyrosine catabolism PE1 15 +NX_P16949 Stathmin 149 17303 5.76 0 Cytoplasm;Cytosol;Nucleus;Cytoskeleton NA Involved in the regulation of the microtubule (MT) filament system by destabilizing microtubules. Prevents assembly and promotes disassembly of microtubules. Phosphorylation at Ser-16 may be required for axon formation during neurogenesis. Involved in the control of the learned and innate fear (By similarity). Many different phosphorylated forms are observed depending on specific combinations among the sites which can be phosphorylated. MAPK is responsible for the phosphorylation of stathmin in response to NGF. Phosphorylation at Ser-16 seems to be required for neuron polarization (By similarity). Phosphorylation at Ser-63 reduces tubulin binding 10-fold and suppresses the MT polymerization inhibition activity.;STMN1 is phosphorylated by MAPK3 Belongs to the stathmin family. MAPK signaling pathway;Nuclear signaling by ERBB4 PE1 1 +NX_P16989 Y-box-binding protein 3 372 40090 9.77 0 Cytoplasm;Cytosol;Nucleus NA Binds to the GM-CSF promoter. Seems to act as a repressor. Binds also to full-length mRNA and to short RNA sequences containing the consensus site 5'-UCCAUCA-3'. May have a role in translation repression (By similarity). NA NA Tight junction PE1 12 +NX_P17010 Zinc finger X-chromosomal protein 805 90522 5.71 0 Nucleus NA Probable transcriptional activator. NA Belongs to the krueppel C2H2-type zinc-finger protein family. ZFX/ZFY subfamily. NA PE1 X +NX_P17014 Zinc finger protein 12 697 81202 8.12 0 Nucleoplasm;Centrosome;Nucleus NA Transcriptional repressor which suppresses activation protein 1 (AP-1)- and serum response element (SRE)-mediated transcriptional activity. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_P17017 Zinc finger protein 14 642 75353 9.36 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_P17019 Zinc finger protein 708 499 57357 9.5 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_P17020 Zinc finger protein 16 682 76472 8.31 0 Nucleoplasm;Nucleolus;Nucleus NA Acts as a transcriptional activator. Promotes cell proliferation by facilitating the cell cycle phase transition from the S to G2/M phase. Involved in both the hemin- and phorbol myristate acetate (PMA)-induced erythroid and megakaryocytic differentiation, respectively. Plays also a role as an inhibitor of cell apoptosis. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 8 +NX_P17021 Zinc finger protein 17 662 77204 8.81 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_P17022 Zinc finger protein 18 549 62288 5.65 0 Golgi apparatus;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 17 +NX_P17023 Zinc finger protein 19 458 52449 7.98 0 Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_P17024 Zinc finger protein 20 532 61567 8.94 0 Nucleoplasm;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_P17025 Zinc finger protein 182 639 73646 8.97 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 X +NX_P17026 Zinc finger protein 22 224 25915 10.06 0 Nucleoplasm;Nucleus NA Binds DNA through the consensus sequence 5'-CAATG-3'. May be involved in transcriptional regulation and may play a role in tooth formation (By similarity). NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 10 +NX_P17027 Zinc finger protein 23 643 73059 8.49 0 Cytosol;Nucleus NA May be involved in transcriptional regulation. May have a role in embryonic development. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_P17028 Zinc finger protein 24 368 42155 5.82 0 Nucleoplasm;Nucleus NA Transcription factor required for myelination of differentiated oligodendrocytes. Required for the conversion of oligodendrocytes from the premyelinating to the myelinating state. In the developing central nervous system (CNS), involved in the maintenance in the progenitor stage by promoting the cell cycle. Specifically binds to the 5'-TCAT-3' DNA sequence (By similarity). Has transcription repressor activity in vitro. Sumoylated. Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 18 +NX_P17029 Zinc finger protein with KRAB and SCAN domains 1 563 63630 6.6 0 Nucleoplasm;Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_P17030 Zinc finger protein 25 456 53545 9.22 0 Golgi apparatus;Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 10 +NX_P17031 Zinc finger protein 26 533 61282 9.12 0 Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 12 +NX_P17032 Zinc finger protein 37A 561 65418 8.53 0 Cytoplasmic vesicle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 10 +NX_P17035 Zinc finger protein 28 718 83658 9.25 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_P17036 Zinc finger protein 3 446 50916 7.31 0 Nucleoplasm;Nucleus NA Involved in cell differentiation and/or proliferation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_P17038 Zinc finger protein 43 809 94124 9.35 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_P17039 Zinc finger protein 30 623 71417 9.27 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_P17040 Zinc finger and SCAN domain-containing protein 20 1043 117541 6.01 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 1 +NX_P17041 Zinc finger protein 32 273 31029 9.52 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 10 +NX_P17050 Alpha-N-acetylgalactosaminidase 411 46565 4.98 0 Lysosome Kanzaki disease;Schindler disease Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids. NA Belongs to the glycosyl hydrolase 27 family. Glycosphingolipid biosynthesis - globo series;Lysosome PE1 22 +NX_P17066 Heat shock 70 kDa protein 6 643 71028 5.81 0 NA NA Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones. The affinity for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. It goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release (PubMed:26865365). NA Belongs to the heat shock protein 70 family. Spliceosome;MAPK signaling pathway;Protein processing in endoplasmic reticulum;Endocytosis;Antigen processing and presentation;Legionellosis;Toxoplasmosis;Measles;Influenza A;Regulation of HSF1-mediated heat shock response;Neutrophil degranulation PE1 1 +NX_P17081 Rho-related GTP-binding protein RhoQ 205 22659 5.94 0 Cytoplasmic vesicle;Cytoplasm;Cytosol;Cell membrane NA Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. May play a role in CFTR trafficking to the plasma membrane. Causes the formation of thin, actin-rich surface projections called filopodia. May be post-translationally modified by both palmitoylation and polyisoprenylation. Belongs to the small GTPase superfamily. Rho family. Insulin signaling pathway;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Rho GTPase cycle;RHO GTPases regulate CFTR trafficking PE1 2 +NX_P17096 High mobility group protein HMG-I/HMG-Y 107 11676 10.31 0 Nucleoplasm;Nucleolus;Nucleus;Chromosome NA HMG-I/Y bind preferentially to the minor groove of A+T rich regions in double-stranded DNA. It is suggested that these proteins could function in nucleosome phasing and in the 3'-end processing of mRNA transcripts. They are also involved in the transcription regulation of genes containing, or in close proximity to A+T-rich regions. Methylation at Arg-58 is mutually exclusive with methylation at Arg-60.;Constitutively phosphorylated on two or three sites. Hyperphosphorylated at early stages of apoptosis, followed by dephosphorylation and methylation, which coincides with chromatin condensation. Isoforms HMG-I and HMG-Y can be phosphorylated by HIPK2. Phosphorylation of HMG-I at Ser-36, Thr-53 and Thr-78 and of HMG-Y at Thr-42 and Thr-67 by HIPK2 modulates DNA-binding affinity.;HMG-Y is not methylated. Belongs to the HMGA family. Vpr-mediated nuclear import of PICs;Formation of Senescence-Associated Heterochromatin Foci (SAHF);Integration of provirus;2-LTR circle formation;Integration of viral DNA into host genomic DNA;Autointegration results in viral DNA circles;APOBEC3G mediated resistance to HIV-1 infection PE1 6 +NX_P17097 Zinc finger protein 7 686 77887 8.67 0 Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 8 +NX_P17098 Zinc finger protein 8 575 64970 7.04 0 Nucleoplasm;Nucleus NA Transcriptional repressor. May modulate BMP and TGF-beta signal transduction, through its interaction with SMAD proteins. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_P17152 Transmembrane protein 11, mitochondrial 192 21541 6.98 2 Mitochondrion inner membrane;Mitochondrion;Cell membrane NA Plays a role in mitochondrial morphogenesis. NA Belongs to the TMEM11 family. Cristae formation PE1 17 +NX_P17174 Aspartate aminotransferase, cytoplasmic 413 46248 6.53 0 Nucleoplasm;Cytoplasm;Cytosol NA Biosynthesis of L-glutamate from L-aspartate or L-cysteine. Important regulator of levels of glutamate, the major excitatory neurotransmitter of the vertebrate central nervous system. Acts as a scavenger of glutamate in brain neuroprotection. The aspartate aminotransferase activity is involved in hepatic glucose synthesis during development and in adipocyte glyceroneogenesis. Using L-cysteine as substrate, regulates levels of mercaptopyruvate, an important source of hydrogen sulfide. Mercaptopyruvate is converted into H(2)S via the action of 3-mercaptopyruvate sulfurtransferase (3MST). Hydrogen sulfide is an important synaptic modulator and neuroprotectant in the brain. NA Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine, aspartate and glutamate metabolism;Cysteine and methionine metabolism;Arginine and proline metabolism;Tyrosine metabolism;Phenylalanine metabolism;Phenylalanine, tyrosine and tryptophan biosynthesis;Metabolic pathways;Gluconeogenesis;Methionine salvage pathway;Aspartate and asparagine metabolism PE1 10 +NX_P17181 Interferon alpha/beta receptor 1 557 63525 5.58 1 Lysosome;Late endosome;Cell membrane NA Component of the receptor for type I interferons, including interferons alpha, IFNB1 and IFNW1 (PubMed:2153461, PubMed:7665574, PubMed:10049744, PubMed:14532120, PubMed:15337770, PubMed:21854986). Functions in general as heterodimer with IFNAR2 (PubMed:7665574, PubMed:10049744, PubMed:21854986). Type I interferon binding activates the JAK-STAT signaling cascade, and triggers tyrosine phosphorylation of a number of proteins including JAKs, TYK2, STAT proteins and the IFNR alpha- and beta-subunits themselves (PubMed:7665574, PubMed:21854986). Can form an active IFNB1 receptor by itself and activate a signaling cascade that does not involve activation of the JAK-STAT pathway (By similarity). Palmitoylation at Cys-463 is required for the activation of STAT1 and STAT2.;Ubiquitinated, leading to its internalization and degradation (PubMed:14532120, PubMed:15337770). Polyubiquitinated via 'Lys-48'-linked and 'Lys-63'-linked ubiquitin chains, leading to receptor internalization and lysosomal degradation (PubMed:18056411). The 'Lys-63'-linked ubiquitin chains are cleaved off by the BRISC complex (PubMed:24075985).;Phosphorylated on serine residues in response to interferon binding; this promotes interaction with FBXW11 and ubiquitination (PubMed:14532120, PubMed:15337770, PubMed:24075985). Phosphorylated on tyrosine residues by TYK2 tyrosine kinase (PubMed:7526154). Phosphorylated on tyrosine residues in response to interferon (PubMed:10049744). Belongs to the type II cytokine receptor family. Cytokine-cytokine receptor interaction;Osteoclast differentiation;Toll-like receptor signaling pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Interferon alpha/beta signaling;Regulation of IFNA signaling PE1 21 +NX_P17213 Bactericidal permeability-increasing protein 487 53900 9.41 0 Cytoplasmic granule membrane;Secreted NA The cytotoxic action of BPI is limited to many species of Gram-negative bacteria; this specificity may be explained by a strong affinity of the very basic N-terminal half for the negatively charged lipopolysaccharides that are unique to the Gram-negative bacterial outer envelope. Has antibacterial activity against the Gram-negative bacterium P.aeruginosa, this activity is inhibited by LPS from P.aeruginosa. NA Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. Toll Like Receptor 4 (TLR4) Cascade;Neutrophil degranulation;Antimicrobial peptides PE1 20 +NX_P17252 Protein kinase C alpha type 672 76750 6.61 0 Cytoplasm;Cell membrane;Mitochondrion membrane;Cytosol;Nucleus NA Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in positive and negative regulation of cell proliferation, apoptosis, differentiation, migration and adhesion, tumorigenesis, cardiac hypertrophy, angiogenesis, platelet function and inflammation, by directly phosphorylating targets such as RAF1, BCL2, CSPG4, TNNT2/CTNT, or activating signaling cascade involving MAPK1/3 (ERK1/2) and RAP1GAP. Involved in cell proliferation and cell growth arrest by positive and negative regulation of the cell cycle. Can promote cell growth by phosphorylating and activating RAF1, which mediates the activation of the MAPK/ERK signaling cascade, and/or by up-regulating CDKN1A, which facilitates active cyclin-dependent kinase (CDK) complex formation in glioma cells. In intestinal cells stimulated by the phorbol ester PMA, can trigger a cell cycle arrest program which is associated with the accumulation of the hyper-phosphorylated growth-suppressive form of RB1 and induction of the CDK inhibitors CDKN1A and CDKN1B. Exhibits anti-apoptotic function in glioma cells and protects them from apoptosis by suppressing the p53/TP53-mediated activation of IGFBP3, and in leukemia cells mediates anti-apoptotic action by phosphorylating BCL2. During macrophage differentiation induced by macrophage colony-stimulating factor (CSF1), is translocated to the nucleus and is associated with macrophage development. After wounding, translocates from focal contacts to lamellipodia and participates in the modulation of desmosomal adhesion. Plays a role in cell motility by phosphorylating CSPG4, which induces association of CSPG4 with extensive lamellipodia at the cell periphery and polarization of the cell accompanied by increases in cell motility. During chemokine-induced CD4(+) T cell migration, phosphorylates CDC42-guanine exchange factor DOCK8 resulting in its dissociation from LRCH1 and the activation of GTPase CDC42 (PubMed:28028151). Is highly expressed in a number of cancer cells where it can act as a tumor promoter and is implicated in malignant phenotypes of several tumors such as gliomas and breast cancers. Negatively regulates myocardial contractility and positively regulates angiogenesis, platelet aggregation and thrombus formation in arteries. Mediates hypertrophic growth of neonatal cardiomyocytes, in part through a MAPK1/3 (ERK1/2)-dependent signaling pathway, and upon PMA treatment, is required to induce cardiomyocyte hypertrophy up to heart failure and death, by increasing protein synthesis, protein-DNA ratio and cell surface area. Regulates cardiomyocyte function by phosphorylating cardiac troponin T (TNNT2/CTNT), which induces significant reduction in actomyosin ATPase activity, myofilament calcium sensitivity and myocardial contractility. In angiogenesis, is required for full endothelial cell migration, adhesion to vitronectin (VTN), and vascular endothelial growth factor A (VEGFA)-dependent regulation of kinase activation and vascular tube formation. Involved in the stabilization of VEGFA mRNA at post-transcriptional level and mediates VEGFA-induced cell proliferation. In the regulation of calcium-induced platelet aggregation, mediates signals from the CD36/GP4 receptor for granule release, and activates the integrin heterodimer ITGA2B-ITGB3 through the RAP1GAP pathway for adhesion. During response to lipopolysaccharides (LPS), may regulate selective LPS-induced macrophage functions involved in host defense and inflammation. But in some inflammatory responses, may negatively regulate NF-kappa-B-induced genes, through IL1A-dependent induction of NF-kappa-B inhibitor alpha (NFKBIA/IKBA). Upon stimulation with 12-O-tetradecanoylphorbol-13-acetate (TPA), phosphorylates EIF4G1, which modulates EIF4G1 binding to MKNK1 and may be involved in the regulation of EIF4E phosphorylation. Phosphorylates KIT, leading to inhibition of KIT activity. Phosphorylates ATF2 which promotes cooperation between ATF2 and JUN, activating transcription. NA Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily. MAPK signaling pathway;ErbB signaling pathway;Calcium signaling pathway;Phosphatidylinositol signaling system;Vascular smooth muscle contraction;Wnt signaling pathway;VEGF signaling pathway;Focal adhesion;Tight junction;Gap junction;Natural killer cell mediated cytotoxicity;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Long-term depression;GnRH signaling pathway;Melanogenesis;Aldosterone-regulated sodium reabsorption;Endocrine and other factor-regulated calcium reabsorption;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Vibrio cholerae infection;Pathogenic Escherichia coli infection;African trypanosomiasis;Amoebiasis;Influenza A;Pathways in cancer;Glioma;Non-small cell lung cancer;SHC1 events in ERBB2 signaling;EGFR Transactivation by Gastrin;Syndecan interactions;Inactivation, recovery and regulation of the phototransduction cascade;Signaling by SCF-KIT;Regulation of KIT signaling;Ca2+ pathway;G alpha (z) signalling events;WNT5A-dependent internalization of FZD4;Depolymerisation of the Nuclear Lamina;VEGFR2 mediated cell proliferation;HuR (ELAVL1) binds and stabilizes mRNA;RHO GTPases Activate NADPH Oxidases;Acetylcholine regulates insulin secretion;Calmodulin induced events;Disinhibition of SNARE formation;Trafficking of GluR2-containing AMPA receptors;Response to elevated platelet cytosolic Ca2+;RET signaling;ROBO receptors bind AKAP5 PE1 17 +NX_P17275 Transcription factor jun-B 347 35879 9.27 0 Nucleoplasm;Nucleus NA Transcription factor involved in regulating gene activity following the primary growth factor response. Binds to the DNA sequence 5'-TGA[CG]TCA-3'. Ubiquitinated by ITCH, leading to its degradation. Belongs to the bZIP family. Jun subfamily. Osteoclast differentiation;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Interleukin-4 and Interleukin-13 signaling PE1 19 +NX_P17301 Integrin alpha-2 1181 129295 5.16 1 Membrane;Nucleoplasm;Cytosol NA (Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human rotavirus A.;Integrin alpha-2/beta-1 is a receptor for laminin, collagen, collagen C-propeptides, fibronectin and E-cadherin. It recognizes the proline-hydroxylated sequence G-F-P-G-E-R in collagen. It is responsible for adhesion of platelets and other cells to collagens, modulation of collagen and collagenase gene expression, force generation and organization of newly synthesized extracellular matrix.;(Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human echoviruses 1 and 8. NA Belongs to the integrin alpha chain family. Phagosome;Focal adhesion;ECM-receptor interaction;Hematopoietic cell lineage;Regulation of actin cytoskeleton;Pathways in cancer;Small cell lung cancer;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Syndecan interactions;Integrin cell surface interactions;ECM proteoglycans;CHL1 interactions;Platelet Adhesion to exposed collagen;Laminin interactions;MET activates PTK2 signaling PE1 5 +NX_P17302 Gap junction alpha-1 protein 382 43008 8.96 4 Cell membrane;Cell junction;Gap junction;Endoplasmic reticulum;Nucleoplasm;Cytoplasmic vesicle Erythrokeratodermia variabilis et progressiva 3;Oculodentodigital dysplasia;Hallermann-Streiff syndrome;Palmoplantar keratoderma and congenital alopecia 1;Syndactyly 3;Atrioventricular septal defect 3;Craniometaphyseal dysplasia, autosomal recessive;Oculodentodigital dysplasia, autosomal recessive;Hypoplastic left heart syndrome 1 Gap junction protein that acts as a regulator of bladder capacity. A gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles (By similarity). S-nitrosylation at Cys-271 is enriched at the muscle endothelial gap junction in arteries, it augments channel permeability and may regulate of smooth muscle cell to endothelial cell communication.;Acetylated in the developing cortex; leading to delocalization from the cell membrane.;Sumoylated with SUMO1, SUMO2 and SUMO3, which may regulate the level of functional Cx43 gap junctions at the plasma membrane. May be desumoylated by SENP1 or SENP2.;Phosphorylated at Ser-368 by PRKCG; phosphorylation induces disassembly of gap junction plaques and inhibition of gap junction activity (By similarity). Phosphorylation at Ser-325, Ser-328 and Ser-330 by CK1 modulates gap junction assembly. Phosphorylation at Ser-368 by PRKCD triggers its internalization into small vesicles leading to proteasome-mediated degradation (By similarity). Belongs to the connexin family. Alpha-type (group II) subfamily. Gap junction;Arrhythmogenic right ventricular cardiomyopathy (ARVC);Gap junction degradation;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;Formation of annular gap junctions;Oligomerization of connexins into connexons;Transport of connexins along the secretory pathway;Regulation of gap junction activity PE1 6 +NX_P17342 Atrial natriuretic peptide receptor 3 541 59808 5.93 1 Membrane;Cytosol NA Receptor for the natriuretic peptide hormones, binding with similar affinities atrial natriuretic peptide NPPA/ANP, brain natriuretic peptide NPPB/BNP, and C-type natriuretic peptide NPPC/CNP. May function as a clearance receptor for NPPA, NPPB and NPPC, regulating their local concentrations and effects. May regulate diuresis, blood pressure and skeletal development. Does not have guanylate cyclase activity. NA Belongs to the ANF receptor family. NA PE1 5 +NX_P17405 Sphingomyelin phosphodiesterase 631 69936 6.9 0 Secreted;Lysosome Niemann-Pick disease B;Niemann-Pick disease A Converts sphingomyelin to ceramide (PubMed:1840600, PubMed:18815062, PubMed:27659707, PubMed:25920558). Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol.;Lacks residues that bind the cofactor Zn(2+) and has no enzyme activity.;Lacks residues that bind the cofactor Zn(2+) and has no enzyme activity. NA Belongs to the acid sphingomyelinase family. Sphingolipid metabolism;Metabolic pathways;Lysosome;Glycosphingolipid metabolism PE1 11 +NX_P17480 Nucleolar transcription factor 1 764 89406 5.63 0 Nucleolus Neurodegeneration, childhood-onset, with brain atrophy Recognizes the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase I through cooperative interactions with the transcription factor SL1/TIF-IB complex. It binds specifically to the upstream control element. Phosphorylated and activated by PIK3CA. NA NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;RNA Polymerase I Promoter Opening PE1 17 +NX_P17481 Homeobox protein Hox-B8 243 27574 8.48 0 Nucleoplasm;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. NA PE1 17 +NX_P17482 Homeobox protein Hox-B9 250 28059 9.01 0 Nucleoplasm;Mitochondrion;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Abd-B homeobox family. NA PE1 17 +NX_P17483 Homeobox protein Hox-B4 251 27604 9.82 0 Nucleoplasm;Centrosome;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. Deformed subfamily. Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 17 +NX_P17509 Homeobox protein Hox-B6 224 25432 8.45 0 Golgi apparatus;Nucleoplasm;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. NA PE1 17 +NX_P17516 Aldo-keto reductase family 1 member C4 323 37067 6.46 0 Cytoplasm 46,XY sex reversal 8 Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol). Also has some 20-alpha-hydroxysteroid dehydrogenase activity. The biotransformation of the pesticide chlordecone (kepone) to its corresponding alcohol leads to increased biliary excretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the major excretory route. The N-terminus is blocked. Belongs to the aldo/keto reductase family. Primary bile acid biosynthesis;Steroid hormone biosynthesis;Metabolism of xenobiotics by cytochrome P450;Metabolic pathways;Retinoid metabolism and transport;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 24-hydroxycholesterol;Synthesis of bile acids and bile salts via 27-hydroxycholesterol PE1 10 +NX_P17535 Transcription factor jun-D 347 35174 6.86 0 Nucleoplasm;Nucleus NA Transcription factor binding AP-1 sites. NA Belongs to the bZIP family. Jun subfamily. MAPK signaling pathway;Osteoclast differentiation;Estrogen-dependent gene expression PE1 19 +NX_P17538 Chymotrypsinogen B 263 27713 6.79 0 Extracellular space NA NA NA Belongs to the peptidase S1 family. Cobalamin (Cbl, vitamin B12) transport and metabolism;Activation of Matrix Metalloproteinases PE1 16 +NX_P17540 Creatine kinase S-type, mitochondrial 419 47504 8.46 0 Mitochondrion inner membrane NA Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. Creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa. NA Belongs to the ATP:guanido phosphotransferase family. Arginine and proline metabolism;Metabolic pathways;Creatine metabolism PE1 5 +NX_P17542 T-cell acute lymphocytic leukemia protein 1 331 34271 7.81 0 Nucleoplasm;Nucleus NA Implicated in the genesis of hemopoietic malignancies. It may play an important role in hemopoietic differentiation. Serves as a positive regulator of erythroid differentiation (By similarity). Ubiquitinated; subsequent to hypoxia-dependent phosphorylation of Ser-122, ubiquitination targets the protein for rapid degradation via the ubiquitin system. This process may be characteristic for microvascular endothelial cells, since it could not be observed in large vessel endothelial cells (By similarity).;Phosphorylated on serine residues. Phosphorylation of Ser-122 is strongly stimulated by hypoxia (By similarity). NA RUNX1 regulates transcription of genes involved in differentiation of HSCs;Transcriptional regulation of granulopoiesis PE1 1 +NX_P17544 Cyclic AMP-dependent transcription factor ATF-7 494 52967 8.88 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Acts as a dominant repressor of the E-selectin/NF-ELAM1/delta-A promoter.;Plays important functions in early cell signaling. Binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AG][AG]-3'), a sequence present in many viral and cellular promoters. Activator of the NF-ELAM1/delta-A site of the E-selectin promoter. Has no intrinsic transcriptional activity, but activates transcription on formation of JUN or FOS heterodimers. Also can bind TRE promoter sequences when heterodimerized with members of the JUN family.;Acts as a negative regulator, inhibiting both ATF2 and ATF7 transcriptional activities. It may exert these effects by sequestrating in the cytoplasm the Thr-53 phosphorylating kinase, preventing activation. Sumoylation delays nuclear localization and inhibits transactivation activity through preventing binding to TAF12. RANBP2 appears to be the specific E3 ligase.;On EGF stimulation, phosphorylated first on Thr-53 allowing subsequent phosphorylation on Thr-51. This latter phosphorylation prevents sumoylation, increases binding to TAF12 and enhances transcriptional activity. Belongs to the bZIP family. NA PE1 12 +NX_P17568 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7 137 16402 9.1 0 Cytoplasm;Mitochondrion intermembrane space;Mitochondrion inner membrane NA Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFB7 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 19 +NX_P17600 Synapsin-1 705 74111 9.84 0 Golgi apparatus;Synapse Epilepsy X-linked, with variable learning disabilities and behavior disorders Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function in the regulation of neurotransmitter release. The complex formed with NOS1 and CAPON proteins is necessary for specific nitric-oxid functions at a presynaptic level. Substrate of at least four different protein kinases. It is probable that phosphorylation plays a role in the regulation of synapsin-1 in the nerve terminal.;Phosphorylation at Ser-9 dissociates synapsins from synaptic vesicles.;SYN1 is phosphorylated by CAMK1G;SYN1 is phosphorylated by CAMK1G (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the synapsin family. Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle PE1 X +NX_P17612 cAMP-dependent protein kinase catalytic subunit alpha 351 40590 8.84 0 Cytoplasm;Mitochondrion;Cell membrane;Membrane;Flagellum;Nucleus;Acrosome Primary pigmented nodular adrenocortical disease 4 Phosphorylates a large number of substrates in the cytoplasm and the nucleus. Regulates the abundance of compartmentalized pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subunits, leading to their subsequent proteolysis. Phosphorylates CDC25B, ABL1, NFKB1, CLDN3, PSMC5/RPT6, PJA2, RYR2, RORA and VASP. RORA is activated by phosphorylation. Required for glucose-mediated adipogenic differentiation increase and osteogenic differentiation inhibition from osteoblasts. Involved in the regulation of platelets in response to thrombin and collagen; maintains circulating platelets in a resting state by phosphorylating proteins in numerous platelet inhibitory pathways when in complex with NF-kappa-B (NFKB1 and NFKB2) and I-kappa-B-alpha (NFKBIA), but thrombin and collagen disrupt these complexes and free active PRKACA stimulates platelets and leads to platelet aggregation by phosphorylating VASP. Prevents the antiproliferative and anti-invasive effects of alpha-difluoromethylornithine in breast cancer cells when activated. RYR2 channel activity is potentiated by phosphorylation in presence of luminal Ca(2+), leading to reduced amplitude and increased frequency of store overload-induced Ca(2+) release (SOICR) characterized by an increased rate of Ca(2+) release and propagation velocity of spontaneous Ca(2+) waves, despite reduced wave amplitude and resting cytosolic Ca(2+). PSMC5/RPT6 activation by phosphorylation stimulates proteasome. Negatively regulates tight junctions (TJs) in ovarian cancer cells via CLDN3 phosphorylation. NFKB1 phosphorylation promotes NF-kappa-B p50-p50 DNA binding. Involved in embryonic development by down-regulating the Hedgehog (Hh) signaling pathway that determines embryo pattern formation and morphogenesis. Prevents meiosis resumption in prophase-arrested oocytes via CDC25B inactivation by phosphorylation. May also regulate rapid eye movement (REM) sleep in the pedunculopontine tegmental (PPT). Phosphorylates APOBEC3G and AICDA.;Phosphorylates and activates ABL1 in sperm flagellum to promote spermatozoa capacitation. Phosphorylates HSF1; this phosphorylation promotes HSF1 nuclear localization and transcriptional activity upon heat shock (PubMed:21085490). Autophosphorylated. Phosphorylation is enhanced by vitamin K(2). Phosphorylated on threonine and serine residues. Phosphorylation on Thr-198 is required for full activity.;Phosphorylated at Tyr-331 by activated receptor tyrosine kinases EGFR and PDGFR; this increases catalytic efficiency.;Asn-3 is partially deaminated to Asp giving rise to 2 major isoelectric variants, called CB and CA respectively. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. cAMP subfamily. MAPK signaling pathway;Calcium signaling pathway;Chemokine signaling pathway;Oocyte meiosis;Apoptosis;Vascular smooth muscle contraction;Wnt signaling pathway;Hedgehog signaling pathway;Gap junction;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Olfactory transduction;Taste transduction;Insulin signaling pathway;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;MAPK6/MAPK4 signaling;Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Factors involved in megakaryocyte development and platelet production;VEGFA-VEGFR2 Pathway;Triglyceride catabolism;Hedgehog 'off' state;PKA activation;PKA activation in glucagon signalling;DARPP-32 events;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Recruitment of NuMA to mitotic centrosomes;Interleukin-3, Interleukin-5 and GM-CSF signaling;CD209 (DC-SIGN) signaling;Regulation of insulin secretion;PKA-mediated phosphorylation of CREB;PKA-mediated phosphorylation of key metabolic factors;Rap1 signalling;CREB1 phosphorylation through the activation of Adenylate Cyclase;AURKA Activation by TPX2;Ion homeostasis;RET signaling;HDL assembly;ROBO receptors bind AKAP5;Regulation of MECP2 expression and activity;Loss of phosphorylation of MECP2 at T308;Regulation of glycolysis by fructose 2,6-bisphosphate metabolism PE1 19 +NX_P17643 5,6-dihydroxyindole-2-carboxylic acid oxidase 537 60724 5.62 1 Cytoplasmic vesicle;Melanosome;Melanosome membrane Albinism, oculocutaneous, 3 Plays a role in melanin biosynthesis (PubMed:22556244, PubMed:16704458). Catalyzes the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid in the presence of bound Cu(2+) ions, but not in the presence of Zn(2+) (PubMed:28661582). May regulate or influence the type of melanin synthesized (PubMed:22556244, PubMed:16704458). Also to a lower extent, capable of hydroxylating tyrosine and producing melanin (By similarity). Glycosylated. Belongs to the tyrosinase family. Pigment biosynthesis; melanin biosynthesis.;Tyrosine metabolism;Metabolic pathways;Melanogenesis;Melanin biosynthesis PE1 9 +NX_P17655 Calpain-2 catalytic subunit 700 79995 4.87 0 Cytoplasm;Cytosol;Cell membrane NA Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Proteolytically cleaves MYOC at 'Arg-226' (PubMed:17650508). Proteolytically cleaves CPEB3 following neuronal stimulation which abolishes CPEB3 translational repressor activity, leading to translation of CPEB3 target mRNAs (By similarity). NA Belongs to the peptidase C2 family. Protein processing in endoplasmic reticulum;Apoptosis;Focal adhesion;Alzheimer's disease;Degradation of the extracellular matrix;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models PE1 1 +NX_P17658 Potassium voltage-gated channel subfamily A member 6 529 58729 4.9 6 Cell membrane NA Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient (PubMed:2347305, PubMed:14575698). The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:2347305, PubMed:14575698). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA6, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (By similarity). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation (By similarity). Homotetrameric channels display rapid activation and slow inactivation (PubMed:2347305). NA Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.6/KCNA6 sub-subfamily. Voltage gated Potassium channels PE1 12 +NX_P17661 Desmin 470 53536 5.21 0 Cytoplasm;Z line;Sarcolemma;Nucleus;Cytoskeleton Cardiomyopathy, dilated 1I;Myopathy, myofibrillar, 1;Neurogenic scapuloperoneal syndrome Kaeser type Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity (PubMed:25358400). In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures (PubMed:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin (By similarity). ADP-ribosylation prevents ability to form intermediate filaments.;Phosphorylation at Ser-7, Ser-28 and Ser-32 by CDK1, phosphorylation at Ser-60 by AURKB and phosphorylation at Thr-76 by ROCK1 contribute to efficient separation of desmin intermediate filaments during mitosis.;DES is phosphorylated by PRKCZ (Phosphoserine,Phosphothreonine:PTM-0253,PTM-0254) Belongs to the intermediate filament family. Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Striated Muscle Contraction PE1 2 +NX_P17676 CCAAT/enhancer-binding protein beta 345 36106 8.55 0 Cytoplasm;Nucleoplasm;Nucleus NA Important transcription factor regulating the expression of genes involved in immune and inflammatory responses (PubMed:1741402, PubMed:9374525, PubMed:12048245, PubMed:18647749). Plays also a significant role in adipogenesis, as well as in the gluconeogenic pathway, liver regeneration, and hematopoiesis. The consensus recognition site is 5'-T[TG]NNGNAA[TG]-3'. Its functional capacity is governed by protein interactions and post-translational protein modifications. During early embryogenesis, plays essential and redundant functions with CEBPA. Has a promitotic effect on many cell types such as hepatocytes and adipocytes but has an antiproliferative effect on T-cells by repressing MYC expression, facilitating differentiation along the T-helper 2 lineage. Binds to regulatory regions of several acute-phase and cytokines genes and plays a role in the regulation of acute-phase reaction and inflammation. Plays also a role in intracellular bacteria killing (By similarity). During adipogenesis, is rapidly expressed and, after activation by phosphorylation, induces CEBPA and PPARG, which turn on the series of adipocyte genes that give rise to the adipocyte phenotype. The delayed transactivation of the CEBPA and PPARG genes by CEBPB appears necessary to allow mitotic clonal expansion and thereby progression of terminal differentiation (PubMed:20829347). Essential for female reproduction because of a critical role in ovarian follicle development (By similarity). Restricts osteoclastogenesis: together with NFE2L1; represses expression of DSPP during odontoblast differentiation (By similarity).;Acts as a dominant negative through heterodimerization with isoform 2 (PubMed:11741938). Promotes osteoblast differentiation and osteoclastogenesis (By similarity).;Essential for gene expression induction in activated macrophages. Plays a major role in immune responses such as CD4(+) T-cell response, granuloma formation and endotoxin shock. Not essential for intracellular bacteria killing. Sumoylated by polymeric chains of SUMO2 or SUMO3 (PubMed:12810706). Sumoylation at Lys-174 is required for inhibition of T-cells proliferation. In adipocytes, sumoylation at Lys-174 by PIAS1 leads to ubiquitination and subsequent proteasomal degradation. Desumoylated by SENP2, which abolishes ubiquitination and stabilizes protein levels (By similarity).;Acetylated. Acetylation at Lys-43 is an important and dynamic regulatory event that contributes to its ability to transactivate target genes, including those associated with adipogenesis and adipocyte function. Deacetylation by HDAC1 represses its transactivation activity. Acetylated by KAT2A and KAT2B within a cluster of lysine residues between amino acids 129-133, this acetylation is strongly induced by glucocorticoid treatment and enhances transactivation activity.;Ubiquitinated, leading to proteasomal degradation.;Methylated. Methylation at Arg-3 by CARM1 and at Lys-43 by EHMT2 inhibit transactivation activity. Methylation is probably inhibited by phosphorylation at Thr-235.;O-glycosylated, glycosylation at Ser-227 and Ser-228 prevents phosphorylation on Thr-235, Ser-231 and Thr-226 and DNA binding activity which delays the adipocyte differentiation program.;Phosphorylated at Thr-235 by MAPK and CDK2, serves to prime phosphorylation at Thr-226 and Ser-231 by GSK3B and acquire DNA-binding as well as transactivation activities, required to induce adipogenesis. MAPK and CDK2 act sequentially to maintain Thr-235 in the primed phosphorylated state during mitotical cloning expansion and thereby progression of terminal differentiation. Phosphorylation at Thr-266 enhances transactivation activity. Phosphorylation at Ser-325 in response to calcium increases transactivation activity. Phosphorylated at Thr-235 by RPS6KA1 (PubMed:11684016). Belongs to the bZIP family. C/EBP subfamily. Tuberculosis;Senescence-Associated Secretory Phenotype (SASP);Transcriptional regulation of white adipocyte differentiation;Transcriptional regulation of granulopoiesis PE1 20 +NX_P17677 Neuromodulin 238 24803 4.64 0 Cytoplasm;Filopodium membrane;Cell membrane;Growth cone membrane;Perikaryon;Synapse;Axon;Dendrite NA This protein is associated with nerve growth. It is a major component of the motile 'growth cones' that form the tips of elongating axons. Plays a role in axonal and dendritic filopodia induction. Palmitoylation by ARF6 is essential for plasma membrane association and axonal and dendritic filopodia induction. Deacylated by LYPLA2.;Phosphorylated (By similarity). Phosphorylation of this protein by a protein kinase C is specifically correlated with certain forms of synaptic plasticity (By similarity).;GAP43 is phosphorylated by PRKCD (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the neuromodulin family. L1CAM interactions PE1 3 +NX_P17693 HLA class I histocompatibility antigen, alpha chain G 338 38224 5.47 1 Endoplasmic reticulum membrane;Filopodium membrane;Cell membrane;Early endosome;Secreted;Early endosome membrane NA Likely does not bind B2M and presents peptides.;Likely does not bind B2M and presents peptides. Negatively regulates NK cell- and CD8+ T cell-mediated cytotoxicity (PubMed:11290782).;Likely does not bind B2M and presents peptides. Negatively regulates NK cell- and CD8+ T cell-mediated cytotoxicity (PubMed:11290782).;Non-classical major histocompatibility class Ib molecule involved in immune regulatory processes at the maternal-fetal interface (PubMed:23184984, PubMed:29262349, PubMed:19304799). In complex with B2M/beta-2 microglobulin binds a limited repertoire of nonamer self-peptides derived from intracellular proteins including histones and ribosomal proteins (PubMed:7584149, PubMed:8805247). Peptide-bound HLA-G-B2M complex acts as a ligand for inhibitory/activating KIR2DL4, LILRB1 and LILRB2 receptors on uterine immune cells to promote fetal development while maintaining maternal-fetal tolerance (PubMed:23184984, PubMed:29262349, PubMed:16366734, PubMed:19304799, PubMed:20448110, PubMed:27859042). Upon interaction with KIR2DL4 and LILRB1 receptors on decidual NK cells, it triggers NK cell senescence-associated secretory phenotype as a molecular switch to promote vascular remodeling and fetal growth in early pregnancy (PubMed:23184984, PubMed:29262349, PubMed:16366734, PubMed:19304799). Through interaction with KIR2DL4 receptor on decidual macrophages induces proinflammatory cytokine production mainly associated with tissue remodeling (PubMed:19304799). Through interaction with LILRB2 receptor triggers differentiation of type 1 regulatory T cells and myeloid-derived suppressor cells, both of which actively maintain maternal-fetal tolerance (PubMed:20448110, PubMed:27859042). May play a role in balancing tolerance and antiviral-immunity at maternal-fetal interface by keeping in check the effector functions of NK, CD8+ T cells and B cells (PubMed:10190900, PubMed:11290782, PubMed:24453251). Reprograms B cells toward an immune suppressive phenotype via LILRB1 (PubMed:24453251). May induce immune activation/suppression via intercellular membrane transfer (trogocytosis), likely enabling interaction with KIR2DL4, which resides mostly in endosomes (PubMed:20179272, PubMed:26460007). Through interaction with the inhibitory receptor CD160 on endothelial cells may control angiogenesis in immune privileged sites (PubMed:16809620).;Likely does not bind B2M and presents peptides.;Likely does not bind B2M and presents peptides. Negatively regulates NK cell- and CD8+ T cell-mediated cytotoxicity (PubMed:11290782).;Non-classical major histocompatibility class Ib molecule involved in immune regulatory processes at the maternal-fetal interface (PubMed:23184984, PubMed:29262349, PubMed:19304799). In complex with B2M/beta-2 microglobulin binds a limited repertoire of nonamer self-peptides derived from intracellular proteins including histones and ribosomal proteins (PubMed:7584149, PubMed:8805247). Peptide-bound HLA-G-B2M complex acts as a ligand for inhibitory/activating KIR2DL4, LILRB1 and LILRB2 receptors on uterine immune cells to promote fetal development while maintaining maternal-fetal tolerance (PubMed:23184984, PubMed:29262349, PubMed:16366734, PubMed:19304799, PubMed:20448110). Upon interaction with KIR2DL4 and LILRB1 receptors on decidual NK cells, it triggers NK cell senescence-associated secretory phenotype as a molecular switch to promote vascular remodeling and fetal growth in early pregnancy (PubMed:23184984, PubMed:29262349, PubMed:16366734, PubMed:19304799). Through interaction with KIR2DL4 receptor on decidual macrophages induces proinflammatory cytokine production mainly associated with tissue remodeling (PubMed:19304799). Through interaction with LILRB2 receptor triggers differentiation of type 1 regulatory T cells and myeloid-derived suppressor cells, both of which actively maintain maternal-fetal tolerance (PubMed:20448110). Reprograms B cells toward an immune suppressive phenotype via LILRB1 (PubMed:24453251). N-glycosylated.;Soluble HLA class I histocompatibility antigen, alpha chain G: Produced by proteolytic cleavage at the cell surface (shedding) by matrix metalloproteinase MMP2. Belongs to the MHC class I family. Endocytosis;Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Natural killer cell mediated cytotoxicity;Type I diabetes mellitus;HTLV-I infection;Herpes simplex infection;Autoimmune thyroid disease;Allograft rejection;Graft-versus-host disease;Viral myocarditis;ER-Phagosome pathway;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Endosomal/Vacuolar pathway;Interferon gamma signaling;Interferon alpha/beta signaling;Antigen Presentation: Folding, assembly and peptide loading of class I MHC PE1 6 +NX_P17706 Tyrosine-protein phosphatase non-receptor type 2 415 48473 8.51 0 Cytoplasm;Endoplasmic reticulum-Golgi intermediate compartment;Cell membrane;Endoplasmic reticulum;Nucleoplasm;Nucleus NA Non-receptor type tyrosine-specific phosphatase that dephosphorylates receptor protein tyrosine kinases including INSR, EGFR, CSF1R, PDGFR. Also dephosphorylates non-receptor protein tyrosine kinases like JAK1, JAK2, JAK3, Src family kinases, STAT1, STAT3 and STAT6 either in the nucleus or the cytoplasm. Negatively regulates numerous signaling pathways and biological processes like hematopoiesis, inflammatory response, cell proliferation and differentiation, and glucose homeostasis. Plays a multifaceted and important role in the development of the immune system. Functions in T-cell receptor signaling through dephosphorylation of FYN and LCK to control T-cells differentiation and activation. Dephosphorylates CSF1R, negatively regulating its downstream signaling and macrophage differentiation. Negatively regulates cytokine (IL2/interleukin-2 and interferon)-mediated signaling through dephosphorylation of the cytoplasmic kinases JAK1, JAK3 and their substrate STAT1, that propagate signaling downstream of the cytokine receptors. Also regulates the IL6/interleukin-6 and IL4/interleukin-4 cytokine signaling through dephosphorylation of STAT3 and STAT6 respectively. In addition to the immune system, it is involved in anchorage-dependent, negative regulation of EGF-stimulated cell growth. Activated by the integrin ITGA1/ITGB1, it dephosphorylates EGFR and negatively regulates EGF signaling. Dephosphorylates PDGFRB and negatively regulates platelet-derived growth factor receptor-beta signaling pathway and therefore cell proliferation. Negatively regulates tumor necrosis factor-mediated signaling downstream via MAPK through SRC dephosphorylation. May also regulate the hepatocyte growth factor receptor signaling pathway through dephosphorylation of the hepatocyte growth factor receptor MET. Plays also an important role in glucose homeostasis. For instance, negatively regulates the insulin receptor signaling pathway through the dephosphorylation of INSR and control gluconeogenesis and liver glucose production through negative regulation of the IL6 signaling pathways. May also bind DNA. Specifically phosphorylated in a cell cycle-dependent manner by cyclin-dependent kinases CDK1 and CDK2. Probably activated through phosphorylation by PKR. Belongs to the protein-tyrosine phosphatase family. Non-receptor class 1 subfamily. Regulation of IFNG signaling;Negative regulation of MET activity;Interleukin-37 signaling PE1 18 +NX_P17707 S-adenosylmethionine decarboxylase proenzyme 334 38340 5.71 0 Nucleoplasm NA Essential for biosynthesis of the polyamines spermidine and spermine. Promotes maintenance and self-renewal of embryonic stem cells, by maintaining spermine levels. Is synthesized initially as an inactive proenzyme. Formation of the active enzyme involves a self-maturation process in which the active site pyruvoyl group is generated from an internal serine residue via an autocatalytic post-translational modification. Two non-identical subunits are generated from the proenzyme in this reaction, and the pyruvate is formed at the N-terminus of the alpha chain, which is derived from the carboxyl end of the proenzyme. The post-translation cleavage follows an unusual pathway, termed non-hydrolytic serinolysis, in which the side chain hydroxyl group of the serine supplies its oxygen atom to form the C-terminus of the beta chain, while the remainder of the serine residue undergoes an oxidative deamination to produce ammonia and the pyruvoyl group blocking the N-terminus of the alpha chain. Belongs to the eukaryotic AdoMetDC family. Amine and polyamine biosynthesis; S-adenosylmethioninamine biosynthesis; S-adenosylmethioninamine from S-adenosyl-L-methionine: step 1/1.;Cysteine and methionine metabolism;Arginine and proline metabolism;Metabolic pathways;Metabolism of polyamines PE1 6 +NX_P17735 Tyrosine aminotransferase 454 50399 5.92 0 NA Tyrosinemia 2 Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and transaminase activity towards phenylalanine. NA Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 2/6.;Ubiquinone and other terpenoid-quinone biosynthesis;Cysteine and methionine metabolism;Tyrosine metabolism;Phenylalanine metabolism;Phenylalanine, tyrosine and tryptophan biosynthesis;Metabolic pathways;Tyrosine catabolism PE1 16 +NX_P17752 Tryptophan 5-hydroxylase 1 444 50985 6.77 0 Cytosol NA NA NA Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. Aromatic compound metabolism; serotonin biosynthesis; serotonin from L-tryptophan: step 1/2.;Tryptophan metabolism;Metabolic pathways;Serotonin and melatonin biosynthesis PE1 11 +NX_P17787 Neuronal acetylcholine receptor subunit beta-2 502 57019 6.33 4 Cell membrane;Postsynaptic cell membrane Epilepsy, nocturnal frontal lobe, 3 After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodiun ions. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-2/CHRNB2 sub-subfamily. Neuroactive ligand-receptor interaction;Cholinergic synapse;Highly calcium permeable postsynaptic nicotinic acetylcholine receptors;Highly sodium permeable acetylcholine nicotinic receptors;Highly calcium permeable nicotinic acetylcholine receptors PE1 1 +NX_P17812 CTP synthase 1 591 66690 6.02 0 Cytosol;Cytoskeleton Immunodeficiency 24 This enzyme is involved in the de novo synthesis of CTP, a precursor of DNA, RNA and phospholipids. Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as a source of nitrogen. This enzyme and its product, CTP, play a crucial role in the proliferation of activated lymphocytes and therefore in immunity. NA Belongs to the CTP synthase family. Pyrimidine metabolism; CTP biosynthesis via de novo pathway; CTP from UDP: step 2/2.;Pyrimidine metabolism;Metabolic pathways;Interconversion of nucleotide di- and triphosphates PE1 1 +NX_P17813 Endoglin 658 70578 6.14 1 Nucleus;Cell membrane Telangiectasia, hereditary hemorrhagic, 1 Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors (PubMed:1692830). Acts as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:8370410, PubMed:21737454, PubMed:22347366, PubMed:23300529). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (PubMed:21737454, PubMed:22347366, PubMed:23300529). NA NA NA PE1 9 +NX_P17844 Probable ATP-dependent RNA helicase DDX5 614 69148 9.06 0 Nucleoplasm;Nucleolus;Nucleus NA Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre-mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA. Involved in transcriptional regulation; the function is independent of the RNA helicase activity. Transcriptional coactivator for androgen receptor AR but probably not ESR1. Synergizes with DDX17 and SRA1 RNA to activate MYOD1 transcriptional activity and involved in skeletal muscle differentiation. Transcriptional coactivator for p53/TP53 and involved in p53/TP53 transcriptional response to DNA damage and p53/TP53-dependent apoptosis. Transcriptional coactivator for RUNX2 and involved in regulation of osteoblast differentiation. Acts as transcriptional repressor in a promoter-specific manner; the function probably involves association with histone deacetylases, such as HDAC1. As component of a large PER complex is involved in the inhibition of 3' transcriptional termination of circadian target genes such as PER1 and NR1D1 and the control of the circadian rhythms. Sumoylated; sumoylation, promoted by PIAS1, promotes interaction with HDAC1 and transcriptional repression activity. Sumoylation also significantly increases stability, and reduces polyubiquitination.;Arg-502 is dimethylated, probably to asymmetric dimethylarginine.;Polyubiquitinated, leading to proteasomal degradation. Belongs to the DEAD box helicase family. DDX5/DBP2 subfamily. Spliceosome;mRNA Splicing - Major Pathway;Estrogen-dependent gene expression;SUMOylation of transcription cofactors PE1 17 +NX_P17858 ATP-dependent 6-phosphofructokinase, liver type 780 85018 7.26 0 Cytoplasm NA Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis (PubMed:22923583). Negatively regulates the phagocyte oxidative burst in response to bacterial infection by controlling cellular NADPH biosynthesis and NADPH oxidase-derived reactive oxygen species. Upon macrophage activation, drives the metabolic switch toward glycolysis, thus preventing glucose turnover that produces NADPH via pentose phosphate pathway (By similarity). GlcNAcylation at Ser-529 by OGT decreases enzyme activity, leading to redirect glucose flux through the oxidative pentose phosphate pathway. Glycosylation is stimulated by both hypoxia and glucose deprivation. Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade 'E' sub-subfamily. Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 3/4.;Glycolysis / Gluconeogenesis;Pentose phosphate pathway;Fructose and mannose metabolism;Galactose metabolism;Metabolic pathways;Glycolysis;Neutrophil degranulation PE1 21 +NX_P17861 X-box-binding protein 1 261 28695 9.71 1 Cytoplasm;Endoplasmic reticulum membrane;Membrane;Endoplasmic reticulum;Nucleus Major affective disorder 7 Functions as a stress-inducible potent transcriptional activator during endoplasmic reticulum (ER) stress by inducing unfolded protein response (UPR) target genes via binding to the UPR element (UPRE). Up-regulates target genes encoding ER chaperones and ER-associated degradation (ERAD) components to enhance the capacity of productive folding and degradation mechanism, respectively, in order to maintain the homeostasis of the ER under ER stress (PubMed:11779464, PubMed:25239945). Plays a role in the production of immunoglobulins and interleukin-6 in the presence of stimuli required for plasma cell differentiation (By similarity). Induces phospholipid biosynthesis and ER expansion (PubMed:15466483). Contributes to the VEGF-induced endothelial cell (EC) growth and proliferation in a Akt/GSK-dependent and/or -independent signaling pathway, respectively, leading to beta-catenin nuclear translocation and E2F2 gene expression (PubMed:23529610). Promotes umbilical vein EC apoptosis and atherosclerotisis development in a caspase-dependent signaling pathway, and contributes to VEGF-induced EC proliferation and angiogenesis in adult tissues under ischemic conditions (PubMed:19416856, PubMed:23529610). Involved in the regulation of endostatin-induced autophagy in EC through BECN1 transcriptional activation (PubMed:23184933). Plays a role as an oncogene by promoting tumor progression: stimulates zinc finger protein SNAI1 transcription to induce epithelial-to-mesenchymal (EMT) transition, cell migration and invasion of breast cancer cells (PubMed:25280941). Involved in adipocyte differentiation by regulating lipogenic gene expression during lactation. Plays a role in the survival of both dopaminergic neurons of the substantia nigra pars compacta (SNpc), by maintaining protein homeostasis and of myeloma cells. Increases insulin sensitivity in the liver as a response to a high carbohydrate diet, resulting in improved glucose tolerance. Improves also glucose homeostasis in an ER stress- and/or insulin-independent manner through both binding and proteasome-induced degradation of the transcription factor FOXO1, hence resulting in suppression of gluconeogenic genes expression and in a reduction of blood glucose levels. Controls the induction of de novo fatty acid synthesis in hepatocytes by regulating the expression of a subset of lipogenic genes in an ER stress- and UPR-independent manner (By similarity). Associates preferentially to the HDAC3 gene promoter region in a disturbed flow-dependent manner (PubMed:25190803). Binds to the BECN1 gene promoter region (PubMed:23184933). Binds to the CDH5/VE-cadherin gene promoter region (PubMed:19416856). Binds to the ER stress response element (ERSE) upon ER stress (PubMed:11779464). Binds to the 5'-CCACG-3' motif in the PPARG promoter (By similarity).;Functions as a transcription factor during endoplasmic reticulum (ER) stress by regulating the unfolded protein response (UPR). Required for cardiac myogenesis and hepatogenesis during embryonic development, and the development of secretory tissues such as exocrine pancreas and salivary gland (By similarity). Involved in terminal differentiation of B lymphocytes to plasma cells and production of immunoglobulins (PubMed:11460154). Modulates the cellular response to ER stress in a PIK3R-dependent manner (PubMed:20348923). Binds to the cis-acting X box present in the promoter regions of major histocompatibility complex class II genes (PubMed:8349596). Involved in VEGF-induced endothelial cell (EC) proliferation and retinal blood vessel formation during embryonic development but also for angiogenesis in adult tissues under ischemic conditions. Functions also as a major regulator of the UPR in obesity-induced insulin resistance and type 2 diabetes for the management of obesity and diabetes prevention (By similarity).;Plays a role in the unconventional cytoplasmic splicing processing of its own mRNA triggered by the endoplasmic reticulum (ER) transmembrane endoribonuclease ENR1: upon ER stress, the emerging XBP1 polypeptide chain, as part of a mRNA-ribosome-nascent chain (R-RNC) complex, cotranslationally recruits its own unprocessed mRNA through transient docking to the ER membrane and translational pausing, therefore facilitating efficient IRE1-mediated XBP1 mRNA isoform 2 production (PubMed:19394296, PubMed:21233347). In endothelial cells (EC), associated with KDR, promotes IRE1-mediated XBP1 mRNA isoform 2 productions in a vascular endothelial growth factor (VEGF)-dependent manner, leading to EC proliferation and angiogenesis (PubMed:23529610). Functions as a negative feed-back regulator of the potent transcription factor XBP1 isoform 2 protein levels through proteasome-mediated degradation, thus preventing the constitutive activation of the ER stress response signaling pathway (PubMed:16461360, PubMed:25239945). Inhibits the transactivation activity of XBP1 isoform 2 in myeloma cells (By similarity). Acts as a weak transcriptional factor (PubMed:8657566). Together with HDAC3, contributes to the activation of NFE2L2-mediated HMOX1 transcription factor gene expression in a PI(3)K/mTORC2/Akt-dependent signaling pathway leading to EC survival under disturbed flow/oxidative stress (PubMed:25190803). Binds to the ER stress response element (ERSE) upon ER stress (PubMed:11779464). Binds to the consensus 5'-GATGACGTG[TG]N(3)[AT]T-3' sequence related to cAMP responsive element (CRE)-like sequences (PubMed:8657566). Binds the Tax-responsive element (TRE) present in the long terminal repeat (LTR) of T-cell leukemia virus type 1 (HTLV-I) and to the TPA response elements (TRE) (PubMed:2321018, PubMed:2196176, PubMed:1903538, PubMed:8657566). Associates preferentially to the HDAC3 gene promoter region in a static flow-dependent manner (PubMed:25190803). Binds to the CDH5/VE-cadherin gene promoter region (PubMed:19416856). X-box-binding protein 1, cytoplasmic form and luminal form are produced by intramembrane proteolytic cleavage of ER membrane-anchored isoform 1 triggered by HM13/SPP in a DERL1-RNF139-dependent and VCP/p97-independent manner. X-box-binding protein 1, luminal form is ubiquitinated leading to proteasomal degradation (PubMed:25239945).;Is deacetylated by SIRT1; deacetylation negatively regulates the transcriptional activity of XBP1 isoform 2 (PubMed:20955178).;Is ubiquitinated, leading to proteasome-mediated degradation in response to ER stress (PubMed:11779464, PubMed:16461360, PubMed:25239945).;Is acetylated by EP300; acetylation positively regulates the transcriptional activity of XBP1 isoform 2 (PubMed:20955178). Belongs to the bZIP family. Protein processing in endoplasmic reticulum;HTLV-I infection;XBP1(S) activates chaperone genes;IRE1alpha activates chaperones;ATF6 (ATF6-alpha) activates chaperone genes PE1 22 +NX_P17900 Ganglioside GM2 activator 193 20838 5.17 0 Lysosome GM2-gangliosidosis AB The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity (By similarity). Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta-hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3. The serines in positions 32 and 33 are absent in 80% of the sequenced protein. NA Lysosome;Glycosphingolipid metabolism;Neutrophil degranulation PE1 5 +NX_P17927 Complement receptor type 1 2039 223663 6.57 1 Membrane NA (Microbial infection) Acts as a receptor for Epstein-Barr virus.;Membrane immune adherence receptor that plays a critical role in the capture and clearance of complement-opsonized pathogens by erythrocytes and monocytes/macrophages (PubMed:2963069). Mediates the binding by these cells of particles and immune complexes that have activated complement to eliminate them from the circulation (PubMed:2963069). Acts also in the inhibition of spontaneous complement activation by impairing the formation and function of the alternative and classical pathway C3/C5 convertases, and by serving as a cofactor for the cleavage by factor I of C3b to iC3b, C3c and C3d,g, and of C4b to C4c and C4d (PubMed:2972794, PubMed:8175757). Plays also a role in immune regulation by contributing, upon ligand binding, to the generation of regulatory T cells from activated helper T cells (PubMed:25742728). NA Belongs to the receptors of complement activation (RCA) family. Complement and coagulation cascades;Hematopoietic cell lineage;Legionellosis;Leishmaniasis;Malaria;Tuberculosis;Regulation of Complement cascade;Neutrophil degranulation;RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) PE1 1 +NX_P17931 Galectin-3 250 26152 8.58 0 Cytoplasm;Cell membrane;Secreted;Nucleoplasm;Cytosol;Nucleus NA Galactose-specific lectin which binds IgE. May mediate with the alpha-3, beta-1 integrin the stimulation by CSPG4 of endothelial cells migration. Together with DMBT1, required for terminal differentiation of columnar epithelial cells during early embryogenesis (By similarity). In the nucleus: acts as a pre-mRNA splicing factor. Involved in acute inflammatory responses including neutrophil activation and adhesion, chemoattraction of monocytes macrophages, opsonization of apoptotic neutrophils, and activation of mast cells. Together with TRIM16, coordinates the recognition of membrane damage with mobilization of the core autophagy regulators ATG16L1 and BECN1 in response to damaged endomembranes. NA NA Advanced glycosylation endproduct receptor signaling;Neutrophil degranulation;RUNX1 regulates transcription of genes involved in differentiation of myeloid cells;RUNX2 regulates genes involved in differentiation of myeloid cells PE1 14 +NX_P17936 Insulin-like growth factor-binding protein 3 291 31674 9.03 0 Nucleoplasm;Cytosol;Secreted;Cytoplasmic vesicle NA IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Also exhibits IGF-independent antiproliferative and apoptotic effects mediated by its receptor TMEM219/IGFBP-3R. Phosphorylated by FAM20C in the extracellular medium. NA p53 signaling pathway;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);TP53 Regulates Transcription of Death Receptors and Ligands;Post-translational protein phosphorylation PE1 7 +NX_P17947 Transcription factor PU.1 270 31083 6.31 0 Nucleoplasm;Nucleus NA Binds to the PU-box, a purine-rich DNA sequence (5'-GAGGAA-3') that can act as a lymphoid-specific enhancer. This protein is a transcriptional activator that may be specifically involved in the differentiation or activation of macrophages or B-cells. Also binds RNA and may modulate pre-mRNA splicing (By similarity). SPI1 is phosphorylated by PRKCD (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the ETS family. Osteoclast differentiation;HTLV-I infection;Pathways in cancer;Acute myeloid leukemia;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Transcriptional regulation of granulopoiesis PE1 11 +NX_P17948 Vascular endothelial growth factor receptor 1 1338 150769 8.66 1 Cytoplasm;Cell membrane;Secreted;Endosome;Cytoskeleton NA Phosphorylates PLCG. Promotes phosphorylation of AKT1 at 'Ser-473'. Promotes phosphorylation of PTK2/FAK1.;Has a truncated kinase domain; it increases phosphorylation of SRC at 'Tyr-418' by unknown means and promotes tumor cell invasion.;Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFB and PGF, and plays an essential role in the development of embryonic vasculature, the regulation of angiogenesis, cell survival, cell migration, macrophage function, chemotaxis, and cancer cell invasion. May play an essential role as a negative regulator of embryonic angiogenesis by inhibiting excessive proliferation of endothelial cells. Can promote endothelial cell proliferation, survival and angiogenesis in adulthood. Its function in promoting cell proliferation seems to be cell-type specific. Promotes PGF-mediated proliferation of endothelial cells, proliferation of some types of cancer cells, but does not promote proliferation of normal fibroblasts (in vitro). Has very high affinity for VEGFA and relatively low protein kinase activity; may function as a negative regulator of VEGFA signaling by limiting the amount of free VEGFA and preventing its binding to KDR. Likewise, isoforms lacking a transmembrane domain, such as isoform 2, isoform 3 and isoform 4, may function as decoy receptors for VEGFA. Modulates KDR signaling by forming heterodimers with KDR. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate and the activation of protein kinase C. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leading to activation of phosphatidylinositol kinase and the downstream signaling pathway. Mediates activation of MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Phosphorylates SRC and YES1, and may also phosphorylate CBL. N-glycosylated.;Ubiquitinated after VEGFA-mediated autophosphorylation, leading to proteolytic degradation.;Autophosphorylated on tyrosine residues upon ligand binding. Autophosphorylation occurs in trans, i.e. One subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-1169 is important for interaction with PLCG. Phosphorylation at Tyr-1213 is important for interaction with PIK3R1, PTPN11, GRB2, and PLCG. Phosphorylation at Tyr-1333 is important for endocytosis and for interaction with CBL, NCK1 and CRK. Is probably dephosphorylated by PTPRB.;Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. Cytokine-cytokine receptor interaction;Endocytosis;Focal adhesion;Rheumatoid arthritis;Neurophilin interactions with VEGF and VEGFR;VEGF binds to VEGFR leading to receptor dimerization PE1 13 +NX_P17980 26S proteasome regulatory subunit 6A 439 49204 5.13 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC3 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides. Sumoylated by UBE2I in response to MEKK1-mediated stimuli. Belongs to the AAA ATPase family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neutrophil degranulation;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 11 +NX_P17987 T-complex protein 1 subunit alpha 556 60344 5.8 0 Cytoplasm;Cytosol;Centrosome NA Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable). NA Belongs to the TCP-1 chaperonin family. BBSome-mediated cargo-targeting to cilium;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Folding of actin by CCT/TriC;Association of TriC/CCT with target proteins during biosynthesis;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 6 +NX_P18031 Tyrosine-protein phosphatase non-receptor type 1 435 49967 5.88 0 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Tyrosine-protein phosphatase which acts as a regulator of endoplasmic reticulum unfolded protein response. Mediates dephosphorylation of EIF2AK3/PERK; inactivating the protein kinase activity of EIF2AK3/PERK. May play an important role in CKII- and p60c-src-induced signal transduction cascades. May regulate the EFNA5-EPHA3 signaling pathway which modulates cell reorganization and cell-cell repulsion. May also regulate the hepatocyte growth factor receptor signaling pathway through dephosphorylation of MET. Oxidized on Cys-215; the Cys-SOH formed in response to redox signaling reacts with the alpha-amido of the following residue to form a sulfenamide cross-link, triggering a conformational change that inhibits substrate binding and activity. The active site can be restored by reduction.;Ser-50 is the major site of phosphorylation as compared to Ser-242 and Ser-243. Activated by phosphorylation at Ser-50.;S-nitrosylation of Cys-215 inactivates the enzyme activity.;Sulfhydration at Cys-215 following endoplasmic reticulum stress inactivates the enzyme activity, promoting EIF2AK3/PERK activity.;PTPN1 is phosphorylated by INSR (Phosphotyrosine:PTM-0255) Belongs to the protein-tyrosine phosphatase family. Non-receptor class 1 subfamily. Adherens junction;Insulin signaling pathway;Regulation of IFNA signaling;Growth hormone receptor signaling;Integrin alphaIIb beta3 signaling;Regulation of IFNG signaling;PTK6 Down-Regulation;Negative regulation of MET activity;MECP2 regulates neuronal receptors and channels PE1 20 +NX_P18054 Arachidonate 12-lipoxygenase, 12S-type 663 75694 5.82 0 Membrane;Cytosol;Nucleus speckle Esophageal cancer;Colorectal cancer Catalyzes the regio and stereo-specific incorporation of a single molecule of dioxygen into free and esterified polyunsaturated fatty acids generating lipid hydroperoxides that can be further reduced to the corresponding hydroxy species (PubMed:17493578, PubMed:1851637, PubMed:8319693, PubMed:8500694, PubMed:18311922). Mainly converts arachidonic acid to (12S)-hydroperoxyeicosatetraenoic acid/(12S)-HPETE but can also metabolize linoleic acid (PubMed:8250832, PubMed:17493578, PubMed:22984144, PubMed:24282679, PubMed:8319693, PubMed:8500694). In contrast does not react towards methyl esters of linoleic and arachidonic acids (By similarity). Also catalyzes the epoxidation of double bonds of polyunsaturated fatty acids such as 14S-hydroperoxy-docosahexaenoate (DHA) resulting in the formation of (13S,14S)-epoxy-DHA (PubMed:23504711). Has a dual activity since it also converts leukotriene A4/LTA4 into both the bioactive lipoxin A4/LXA4 and lipoxin B4/LXB4 (PubMed:8250832). Through the production of specific bioactive lipids like (12S)-HPETE it regulates different biological processes including platelet activation (PubMed:8319693, PubMed:8500694). It also probably positively regulates angiogenesis through regulation of the expression of the vascular endothelial growth factor (PubMed:9751607, PubMed:16638750). Plays a role in apoptotic process, promoting the survival of vascular smooth muscle cells for instance (PubMed:23578768). May also play a role in the control of cell migration and proliferation (PubMed:22237009). NA Belongs to the lipoxygenase family. Lipid metabolism; hydroperoxy eicosatetraenoic acid biosynthesis.;Arachidonic acid metabolism;Metabolic pathways;Synthesis of Lipoxins (LX);Synthesis of 12-eicosatetraenoic acid derivatives;Synthesis of Hepoxilins (HX) and Trioxilins (TrX);Biosynthesis of DHA-derived SPMs;Biosynthesis of DPAn-6 SPMs;Biosynthesis of DPAn-3-derived maresins PE1 17 +NX_P18065 Insulin-like growth factor-binding protein 2 325 34814 7.48 0 Endoplasmic reticulum;Secreted NA Inhibits IGF-mediated growth and developmental rates. IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. O-glycosylated. NA Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) PE1 2 +NX_P18074 General transcription and DNA repair factor IIH helicase subunit XPD 760 86909 6.72 0 Nucleoplasm;Cytosol;Spindle;Nucleus Cerebro-oculo-facio-skeletal syndrome 2;Xeroderma pigmentosum complementation group D;Trichothiodystrophy 1, photosensitive ATP-dependent 5'-3' DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATP-dependent helicase activity of XPD/ERCC2 is required for DNA opening. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. XPD/ERCC2 acts by forming a bridge between CAK and the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers. ISGylated. Belongs to the helicase family. RAD3/XPD subfamily. Basal transcription factors;Nucleotide excision repair;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Tat-mediated elongation of the HIV-1 transcript;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;Cytosolic iron-sulfur cluster assembly;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER;TP53 Regulates Transcription of DNA Repair Genes PE1 19 +NX_P18075 Bone morphogenetic protein 7 431 49313 7.74 0 Nucleoplasm;Secreted;Nucleolus;Cytoplasmic vesicle NA Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis. Several N-termini starting at positions 293, 300, 315 and 316 have been identified by direct sequencing resulting in secretion of different mature forms. Belongs to the TGF-beta family. Cytokine-cytokine receptor interaction;Hedgehog signaling pathway;TGF-beta signaling pathway;Molecules associated with elastic fibres PE1 20 +NX_P18077 60S ribosomal protein L35a 110 12538 11.07 0 NA Diamond-Blackfan anemia 5 Required for the proliferation and viability of hematopoietic cells. Plays a role in 60S ribosomal subunit formation. The protein was found to bind to both initiator and elongator tRNAs and consequently was assigned to the P site or P and A site. NA Belongs to the eukaryotic ribosomal protein eL33 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 3 +NX_P18084 Integrin beta-5 799 88054 5.72 1 Membrane;Mitochondrion;Cell membrane NA Integrin alpha-V/beta-5 (ITGAV:ITGB5) is a receptor for fibronectin. It recognizes the sequence R-G-D in its ligand.;(Microbial infection) Integrin ITGAV:ITGB5 acts as a receptor for adenovirus type C. NA Belongs to the integrin beta chain family. Phagosome;Focal adhesion;ECM-receptor interaction;Regulation of actin cytoskeleton;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Syndecan interactions;Integrin cell surface interactions;ECM proteoglycans;Molecules associated with elastic fibres;Smooth Muscle Contraction;Cross-presentation of particulate exogenous antigens (phagosomes) PE1 3 +NX_P18085 ADP-ribosylation factor 4 180 20511 6.6 0 Membrane;Golgi apparatus NA GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus. NA Belongs to the small GTPase superfamily. Arf family. VxPx cargo-targeting to cilium;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 3 +NX_P18089 Alpha-2B adrenergic receptor 450 49954 8.8 7 Cell membrane Epilepsy, familial adult myoclonic, 2 Alpha-2 adrenergic receptors mediate the catecholamine-induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is clonidine > norepinephrine > epinephrine = oxymetazoline > dopamine > p-tyramine = phenylephrine > serotonin > p-synephrine / p-octopamine. For antagonists, the rank order is yohimbine > chlorpromazine > phentolamine > mianserine > spiperone > prazosin > alprenolol > propanolol > pindolol. NA Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRA2B sub-subfamily. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;G alpha (z) signalling events;Adrenoceptors;Adrenaline signalling through Alpha-2 adrenergic receptor PE1 2 +NX_P18124 60S ribosomal protein L7 248 29226 10.66 0 Endoplasmic reticulum;Cytosol;Nucleolus NA Component of the large ribosomal subunit (PubMed:12962325). Binds to G-rich structures in 28S rRNA and in mRNAs. Plays a regulatory role in the translation apparatus; inhibits cell-free translation of mRNAs. NA Belongs to the universal ribosomal protein uL30 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 8 +NX_P18146 Early growth response protein 1 543 57507 8.51 0 Cytoplasm;Nucleoplasm;Nucleus NA Transcriptional regulator (PubMed:20121949). Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3'(EGR-site) in the promoter region of target genes (By similarity). Binds double-stranded target DNA, irrespective of the cytosine methylation status (PubMed:25258363, PubMed:25999311). Regulates the transcription of numerous target genes, and thereby plays an important role in regulating the response to growth factors, DNA damage, and ischemia. Plays a role in the regulation of cell survival, proliferation and cell death. Activates expression of p53/TP53 and TGFB1, and thereby helps prevent tumor formation. Required for normal progress through mitosis and normal proliferation of hepatocytes after partial hepatectomy. Mediates responses to ischemia and hypoxia; regulates the expression of proteins such as IL1B and CXCL2 that are involved in inflammatory processes and development of tissue damage after ischemia. Regulates biosynthesis of luteinizing hormone (LHB) in the pituitary (By similarity). Regulates the amplitude of the expression rhythms of clock genes: ARNTL/BMAL1, PER2 and NR1D1 in the liver via the activation of PER1 (clock repressor) transcription. Regulates the rhythmic expression of core-clock gene ARNTL/BMAL1 in the suprachiasmatic nucleus (SCN) (By similarity). NA Belongs to the EGR C2H2-type zinc-finger protein family. Interferon alpha/beta signaling;Regulation of PTEN gene transcription PE1 5 +NX_P18206 Vinculin 1134 123799 5.5 0 Cytoplasm;Cell membrane;Adherens junction;Focal adhesion;Sarcolemma;Cytoskeleton Cardiomyopathy, familial hypertrophic 15;Cardiomyopathy, dilated 1W Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion. Phosphorylated; on serines, threonines and tyrosines. Phosphorylation on Tyr-1133 in activated platelets affects head-tail interactions and cell spreading but has no effect on actin binding nor on localization to focal adhesion plaques (By similarity).;Acetylated; mainly by myristic acid but also by a small amount of palmitic acid. Belongs to the vinculin/alpha-catenin family. Focal adhesion;Adherens junction;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Shigellosis;Amoebiasis;MAP2K and MAPK activation;Platelet degranulation;Smooth Muscle Contraction;Neutrophil degranulation;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 10 +NX_P18283 Glutathione peroxidase 2 190 21954 7.64 0 Nucleoplasm;Cytosol;Cytoplasm NA Could play a major role in protecting mammals from the toxicity of ingested organic hydroperoxides. Tert-butyl hydroperoxide, cumene hydroperoxide and linoleic acid hydroperoxide but not phosphatidycholine hydroperoxide, can act as acceptors. NA Belongs to the glutathione peroxidase family. Glutathione metabolism;Arachidonic acid metabolism;Detoxification of Reactive Oxygen Species;TP53 Regulates Metabolic Genes;Synthesis of 15-eicosatetraenoic acid derivatives;Synthesis of 12-eicosatetraenoic acid derivatives;Synthesis of 5-eicosatetraenoic acids PE1 14 +NX_P18405 3-oxo-5-alpha-steroid 4-dehydrogenase 1 259 29459 9.19 5 Microsome membrane;Endoplasmic reticulum membrane NA Converts testosterone into 5-alpha-dihydrotestosterone and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology. NA Belongs to the steroid 5-alpha reductase family. Steroid hormone biosynthesis;Androgen biosynthesis PE1 5 +NX_P18428 Lipopolysaccharide-binding protein 481 53384 6.23 0 Cytoplasmic granule membrane;Secreted NA Plays a role in the innate immune response. Binds to the lipid A moiety of bacterial lipopolysaccharides (LPS), a glycolipid present in the outer membrane of all Gram-negative bacteria (PubMed:7517398, PubMed:24120359). Acts as an affinity enhancer for CD14, facilitating its association with LPS. Promotes the release of cytokines in response to bacterial lipopolysaccharide (PubMed:7517398, PubMed:24120359). NA Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. Toll-like receptor signaling pathway;Salmonella infection;Tuberculosis;Toll Like Receptor 4 (TLR4) Cascade;Transfer of LPS from LBP carrier to CD14;Regulation of TLR by endogenous ligand;Interleukin-4 and Interleukin-13 signaling PE1 20 +NX_P18433 Receptor-type tyrosine-protein phosphatase alpha 802 90719 6.23 1 Membrane;Nucleoplasm;Cytoplasmic vesicle NA NA NA Belongs to the protein-tyrosine phosphatase family. Receptor class 4 subfamily. RAF/MAP kinase cascade;NCAM signaling for neurite out-growth PE1 20 +NX_P18440 Arylamine N-acetyltransferase 1 290 33899 6.09 0 Cytoplasm NA Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens. NA Belongs to the arylamine N-acetyltransferase family. Caffeine metabolism;Drug metabolism - other enzymes;Metabolic pathways;Acetylation PE1 8 +NX_P18505 Gamma-aminobutyric acid receptor subunit beta-1 474 54235 8.88 4 Cell membrane;Postsynaptic cell membrane Epileptic encephalopathy, early infantile, 45 Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB1 sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse;Signaling by ERBB4;GABA receptor activation PE1 4 +NX_P18507 Gamma-aminobutyric acid receptor subunit gamma-2 467 54162 8.72 4 Cytoplasmic vesicle membrane;Dendrite;Cell membrane;Postsynaptic cell membrane Febrile seizures, familial, 8;Epileptic encephalopathy, early infantile, 74;Epilepsy, childhood absence 2;Generalized epilepsy with febrile seizures plus 3 Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:2538761, PubMed:29950725). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:23909897, PubMed:25489750, PubMed:27864268). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha1/beta2/gamma2 receptor and the alpha1/beta3/gamma2 receptor exhibit synaptogenic activity (PubMed:23909897, PubMed:25489750). The alpha2/beta2/gamma2 receptor exhibits synatogenic activity whereas the alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity). Functions also as histamine receptor and mediates cellular responses to histamine (By similarity). Glycosylated.;Palmitoylated by ZDHHC3/GODZ; which may affect presynaptic clustering and/or cell surface stability. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG2 sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse;Signaling by ERBB4;GABA receptor activation PE1 5 +NX_P18509 Pituitary adenylate cyclase-activating polypeptide 176 18835 9.83 0 Secreted NA Binding to its receptor activates G proteins and stimulates adenylate cyclase in pituitary cells. Promotes neuron projection development through the RAPGEF2/Rap1/B-Raf/ERK pathway. In chromaffin cells, induces long-lasting increase of intracellular calcium concentrations and neuroendocrine secretion (By similarity). Involved in the control of glucose homeostasis, induces insulin secretion by pancreatic beta cells (By similarity). NA Belongs to the glucagon family. G alpha (s) signalling events;Glucagon-type ligand receptors;NGF-independant TRKA activation PE1 18 +NX_P18510 Interleukin-1 receptor antagonist protein 177 20055 5.83 0 Cytoplasm;Secreted;Nucleoplasm;Centrosome;Cytosol Interleukin 1 receptor antagonist deficiency;Microvascular complications of diabetes 4 Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure. NA NA Interleukin-10 signaling;Interleukin-1 signaling PE1 2 +NX_P18545 Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma 87 9643 9.52 0 NA Retinitis pigmentosa 57 Participates in processes of transmission and amplification of the visual signal. CGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones. NA Belongs to the rod/cone cGMP-PDE gamma subunit family. Purine metabolism;Phototransduction;Activation of the phototransduction cascade;Inactivation, recovery and regulation of the phototransduction cascade;Ca2+ pathway PE1 17 +NX_P18564 Integrin beta-6 788 85936 5.34 1 Cell junction;Focal adhesion;Membrane;Nucleoplasm;Centrosome Amelogenesis imperfecta 1H (Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for Herpes simplex virus-1/HHV-1 (PubMed:24367260).;Integrin alpha-V:beta-6 (ITGAV:ITGB6) is a receptor for fibronectin and cytotactin (PubMed:17545607, PubMed:17158881). It recognizes the sequence R-G-D in its ligands (PubMed:17545607, PubMed:17158881). Internalisation of integrin alpha-V/beta-6 via clathrin-mediated endocytosis promotes carcinoma cell invasion (PubMed:17545607, PubMed:17158881). ITGAV:ITGB6 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:17158881). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447).;(Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for Coxsackievirus A9 and Coxsackievirus B1. NA Belongs to the integrin beta chain family. Focal adhesion;ECM-receptor interaction;Regulation of actin cytoskeleton;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Integrin cell surface interactions;ECM proteoglycans;Molecules associated with elastic fibres;Elastic fibre formation PE1 2 +NX_P18577 Blood group Rh(CE) polypeptide 417 45560 9.45 11 Membrane Rh-null, amorph type May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane. NA Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily. Rhesus blood group biosynthesis PE1 1 +NX_P18583 Protein SON 2426 263830 5.5 0 Nucleus speckle;Nucleus ZTTK syndrome RNA-binding protein that acts as a mRNA splicing cofactor by promoting efficient splicing of transcripts that possess weak splice sites. Specifically promotes splicing of many cell-cycle and DNA-repair transcripts that possess weak splice sites, such as TUBG1, KATNB1, TUBGCP2, AURKB, PCNT, AKT1, RAD23A, and FANCG. Probably acts by facilitating the interaction between Serine/arginine-rich proteins such as SRSF2 and the RNA polymerase II. Also binds to DNA; binds to the consensus DNA sequence: 5'-GA[GT]AN[CG][AG]CC-3'. May indirectly repress hepatitis B virus (HBV) core promoter activity and transcription of HBV genes and production of HBV virions. Essential for correct RNA splicing of multiple genes critical for brain development, neuronal migration and metabolism, including TUBG1, FLNA, PNKP, WDR62, PSMD3, PCK2, PFKL, IDH2, and ACY1 (PubMed:27545680). NA NA NA PE1 21 +NX_P18615 Negative elongation factor E 380 43240 9.36 0 Nucleoplasm;Nucleus NA (Microbial infection) The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II.;Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II (PubMed:10199401). The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex (PubMed:11940650, PubMed:12612062). Provides the strongest RNA binding activity of the NELF complex and may initially recruit the NELF complex to RNA (PubMed:18303858, PubMed:27282391). Sumoylated. Belongs to the RRM NELF-E family. Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;TP53 Regulates Transcription of DNA Repair Genes PE1 6 +NX_P18621 60S ribosomal protein L17 184 21397 10.18 0 Endoplasmic reticulum;Cytosol NA Component of the large ribosomal subunit. NA Belongs to the universal ribosomal protein uL22 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 18 +NX_P18627 Lymphocyte activation gene 3 protein 525 57449 8.14 1 Secreted;Cell membrane NA Lymphocyte activation gene 3 protein: Inhibitory receptor on antigen activated T-cells (PubMed:7805750, PubMed:8647185, PubMed:20421648). Delivers inhibitory signals upon binding to ligands, such as FGL1 (By similarity). FGL1 constitutes a major ligand of LAG3 and is responsible for LAG3 T-cell inhibitory function (By similarity). Following TCR engagement, LAG3 associates with CD3-TCR in the immunological synapse and directly inhibits T-cell activation (By similarity). May inhibit antigen-specific T-cell activation in synergy with PDCD1/PD-1, possibly by acting as a coreceptor for PDCD1/PD-1 (By similarity). Negatively regulates the proliferation, activation, effector function and homeostasis of both CD8(+) and CD4(+) T-cells (PubMed:7805750, PubMed:8647185, PubMed:20421648). Also mediates immune tolerance: constitutively expressed on a subset of regulatory T-cells (Tregs) and contributes to their suppressive function (By similarity). Also acts as a negative regulator of plasmacytoid dendritic cell (pDCs) activation (By similarity). Binds MHC class II (MHC-II); the precise role of MHC-II-binding is however unclear (PubMed:8647185).;Secreted lymphocyte activation gene 3 protein: May function as a ligand for MHC class II (MHC-II) on antigen-presenting cells (APC), promoting APC activation/maturation and driving Th1 immune response. Lymphocyte activation gene 3 protein: Proteolytically cleaved by ADAM10 and ADAM17 within the connecting peptide region, leading to release of Secreted lymphocyte activation gene 3 protein (sLAG-3). ADAM10 mediates constitutive cleavage, but cleavage increases following T-cell activation, whereas shedding by ADAM17 is induced by TCR signaling in a PRKCQ-dependent manner. Belongs to the LAG3 family. MHC class II antigen presentation PE1 12 +NX_P18669 Phosphoglycerate mutase 1 254 28804 6.67 0 NA NA Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase), but with a reduced activity. Acetylated at Lys-253, Lys-253 and Lys-254 under high glucose condition. Acetylation increases catalytic activity. Under glucose restriction SIRT1 levels dramatically increase and it deacetylates the enzyme.;PGAM1 is phosphorylated by MAPK3 Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily. Glycolysis / Gluconeogenesis;Metabolic pathways;Glycolysis;Gluconeogenesis;Neutrophil degranulation PE1 10 +NX_P18754 Regulator of chromosome condensation 421 44969 7.18 0 Cytoplasm;Nucleus membrane;Chromosome;Nucleoplasm;Nucleus NA Guanine-nucleotide releasing factor that promotes the exchange of Ran-bound GDP by GTP, and thereby plays an important role in RAN-mediated functions in nuclear import and mitosis (PubMed:1944575, PubMed:17435751, PubMed:20668449, PubMed:22215983, PubMed:11336674). Contributes to the generation of high levels of chromosome-associated, GTP-bound RAN, which is important for mitotic spindle assembly and normal progress through mitosis (PubMed:12194828, PubMed:17435751, PubMed:22215983). Via its role in maintaining high levels of GTP-bound RAN in the nucleus, contributes to the release of cargo proteins from importins after nuclear import (PubMed:22215983). Involved in the regulation of onset of chromosome condensation in the S phase (PubMed:3678831). Binds both to the nucleosomes and double-stranded DNA (PubMed:17435751, PubMed:18762580). N-terminal methylation by METTL11A/NTM1 is required for binding double-stranded DNA and stable chromatin association. Di- and trimethylation produce a permanent positive charge on the amino group, which facilitates electrostatic binding to the phosphate groups on DNA, while inhibiting histone-binding. Methylated tail helps retain RCC1 on chromosomes during nucleotide exchange on Ran.;RCC1 is phosphorylated by MAPK3 NA Rev-mediated nuclear export of HIV RNA;Nuclear import of Rev protein PE1 1 +NX_P18825 Alpha-2C adrenergic receptor 462 49522 10.32 7 Cell membrane NA Alpha-2 adrenergic receptors mediate the catecholamine-induced inhibition of adenylate cyclase through the action of G proteins. NA Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRA2C sub-subfamily. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Adrenaline,noradrenaline inhibits insulin secretion;G alpha (z) signalling events;Adrenoceptors;Adrenaline signalling through Alpha-2 adrenergic receptor;Surfactant metabolism PE1 4 +NX_P18827 Syndecan-1 310 32462 4.53 1 Membrane;Extracellular exosome;Focal adhesion;Secreted NA Cell surface proteoglycan that bears both heparan sulfate and chondroitin sulfate and that links the cytoskeleton to the interstitial matrix. Regulates exosome biogenesis in concert with SDCBP and PDCD6IP (PubMed:22660413). Shedding is enhanced by a number of factors such as heparanase, thrombin or EGF. Also by stress and wound healing. PMA-mediated shedding is inhibited by TIMP3. Belongs to the syndecan proteoglycan family. ECM-receptor interaction;Cell adhesion molecules (CAMs);Malaria;Retinoid metabolism and transport;HS-GAG biosynthesis;A tetrasaccharide linker sequence is required for GAG synthesis;HS-GAG degradation;Syndecan interactions;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;Defective EXT2 causes exostoses 2;Defective EXT1 causes exostoses 1, TRPS2 and CHDS;Cell surface interactions at the vascular wall;Defective B3GALT6 causes EDSP2 and SEMDJL1;Other interleukin signaling PE1 2 +NX_P18846 Cyclic AMP-dependent transcription factor ATF-1 271 29233 8.44 0 Nucleoplasm;Nucleus Angiomatoid fibrous histiocytoma This protein binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Binds to the Tax-responsive element (TRE) of HTLV-I. Mediates PKA-induced stimulation of CRE-reporter genes. Represses the expression of FTH1 and other antioxidant detoxification genes. Triggers cell proliferation and transformation. Phosphorylated at Ser-198 by HIPK2 in response to genotoxic stress. This phosphorylation promotes transcription repression of FTH1 and other antioxidant detoxification genes. The CDK3-mediated phosphorylation at Ser-63 promotes its transactivation and transcriptional activities. Phosphorylated at Ser-63 by RPS6KA4 and RPS6KA5 in response to mitogenic or stress stimuli.;ATF1 is phosphorylated by CSNK2A1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the bZIP family. ATF subfamily. HTLV-I infection;CREB phosphorylation PE1 12 +NX_P18847 Cyclic AMP-dependent transcription factor ATF-3 181 20576 8.8 0 Nucleoplasm;Nucleolus;Nucleus NA Activates transcription presumably by sequestering inhibitory cofactors away from the promoters.;This protein binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Represses transcription from promoters with ATF sites. It may repress transcription by stabilizing the binding of inhibitory cofactors at the promoter. NA Belongs to the bZIP family. ATF subfamily. HTLV-I infection;ATF4 activates genes in response to endoplasmic reticulum stress PE1 1 +NX_P18848 Cyclic AMP-dependent transcription factor ATF-4 351 38590 4.83 0 Cytoplasm;Cell membrane;Centriolar satellite;Centrosome;Cytosol;Nucleus NA Transcriptional activator. Binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Cooperates with FOXO1 in osteoblasts to regulate glucose homeostasis through suppression of beta-cell production and decrease in insulin production (By similarity). It binds to a Tax-responsive enhancer element in the long terminal repeat of HTLV-I. Regulates the induction of DDIT3/CHOP and asparagine synthetase (ASNS) in response to endoplasmic reticulum (ER) stress. In concert with DDIT3/CHOP, activates the transcription of TRIB3 and promotes ER stress-induced neuronal apoptosis by regulating the transcriptional induction of BBC3/PUMA. Activates transcription of SIRT4. Regulates the circadian expression of the core clock component PER2 and the serotonin transporter SLC6A4. Binds in a circadian time-dependent manner to the cAMP response elements (CRE) in the SLC6A4 and PER2 promoters and periodically activates the transcription of these genes. During ER stress response, activates the transcription of NLRP1, possibly in concert with other factors (PubMed:26086088). Ubiquitinated by SCF(BTRC) in response to mTORC1 signal, followed by proteasomal degradation and leading to down-regulate expression of SIRT4.;Phosphorylated by NEK6.;Phosphorylated by NEK6 (By similarity). Phosphorylated on the betaTrCP degron motif at Ser-219, followed by phosphorylation at Thr-213, Ser-224, Ser-231, Ser-235 and Ser-248, promoting interaction with BTRC and ubiquitination. Phosphorylation is promoted by mTORC1 (By similarity).;ATF4 is phosphorylated by NEK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the bZIP family. MAPK signaling pathway;Protein processing in endoplasmic reticulum;Long-term potentiation;Neurotrophin signaling pathway;Cholinergic synapse;Dopaminergic synapse;GnRH signaling pathway;HTLV-I infection;Prostate cancer;ATF4 activates genes in response to endoplasmic reticulum stress;PERK regulates gene expression;ATF6 (ATF6-alpha) activates chaperone genes PE1 22 +NX_P18850 Cyclic AMP-dependent transcription factor ATF-6 alpha 670 74585 8.36 1 Endoplasmic reticulum membrane;Nucleus Achromatopsia 7 Transmembrane glycoprotein of the endoplasmic reticulum that functions as a transcription activator and initiates the unfolded protein response (UPR) during endoplasmic reticulum stress. Cleaved upon ER stress, the N-terminal processed cyclic AMP-dependent transcription factor ATF-6 alpha translocates to the nucleus where it activates transcription of genes involved in the UPR. Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress response element (ERSE) (5'-CCAAT-N(9)-CCAC[GA]-3') and of ERSE II (5'-ATTGG-N-CCACG-3'). Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor. May play a role in foveal development and cone function in the retina. N-glycosylated. The glycosylation status may serve as a sensor for ER homeostasis, resulting in ATF6 activation to trigger the unfolded protein response (UPR).;Phosphorylated in vitro by MAPK14/P38MAPK.;During unfolded protein response, a fragment of approximately 50 kDa containing the cytoplasmic transcription factor domain is released by proteolysis. The cleavage seems to be performed sequentially by site-1 and site-2 proteases. Belongs to the bZIP family. ATF subfamily. Protein processing in endoplasmic reticulum;Alzheimer's disease;ATF4 activates genes in response to endoplasmic reticulum stress;ATF6 (ATF6-alpha) activates chaperones;ATF6 (ATF6-alpha) activates chaperone genes PE1 1 +NX_P18858 DNA ligase 1 919 101736 5.49 0 Golgi apparatus;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA DNA ligase that seals nicks in double-stranded DNA during DNA replication, DNA recombination and DNA repair. NA Belongs to the ATP-dependent DNA ligase family. DNA replication;Base excision repair;Nucleotide excision repair;Mismatch repair;Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha);Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta);POLB-Dependent Long Patch Base Excision Repair;PCNA-Dependent Long Patch Base Excision Repair;Processive synthesis on the C-strand of the telomere;Processive synthesis on the lagging strand;Early Phase of HIV Life Cycle;Gap-filling DNA repair synthesis and ligation in TC-NER;Gap-filling DNA repair synthesis and ligation in GG-NER PE1 19 +NX_P18859 ATP synthase-coupling factor 6, mitochondrial 108 12588 9.52 0 Mitochondrion inner membrane;Mitochondrion NA Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements. Also involved in the restoration of oligomycin-sensitive ATPase activity to depleted F1-F0 complexes. NA Belongs to the eukaryotic ATPase subunit F6 family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Formation of ATP by chemiosmotic coupling;Cristae formation PE1 21 +NX_P18887 DNA repair protein XRCC1 633 69477 6.02 0 Nucleoplasm;Nucleus Spinocerebellar ataxia, autosomal recessive, 26 Involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes. Probably during DNA repair, negatively regulates ADP-ribose levels by modulating ADP-ribosyltransferase PARP1 activity. Phosphorylation of Ser-371 causes dimer dissociation. Phosphorylation by CK2 promotes interaction with APTX and APLF.;Sumoylated. NA Base excision repair;Resolution of AP sites via the single-nucleotide replacement pathway;APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through MMEJ (alt-NHEJ);Gap-filling DNA repair synthesis and ligation in GG-NER PE1 19 +NX_P19012 Keratin, type I cytoskeletal 15 456 49212 4.71 0 Nucleoplasm;Cytoskeleton NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_P19013 Keratin, type II cytoskeletal 4 534 57285 6.25 0 Cytoskeleton White sponge nevus 1 NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_P19021 Peptidyl-glycine alpha-amidating monooxygenase 973 108332 5.98 1 Golgi apparatus;Secreted;Membrane;Secretory vesicle membrane;Cytosol NA Bifunctional enzyme that catalyzes the post-translational modification of inactive peptidylglycine precursors to the corresponding bioactive alpha-amidated peptides, a terminal modification in biosynthesis of many neural and endocrine peptides (PubMed:12699694). Alpha-amidation involves two sequential reactions, both of which are catalyzed by separate catalytic domains of the enzyme. The first step, catalyzed by peptidyl alpha-hydroxylating monoxygenase (PHM) domain, is the copper-, ascorbate-, and O2- dependent stereospecific hydroxylation (with S stereochemistry) at the alpha-carbon (C-alpha) of the C-terminal glycine of the peptidylglycine substrate (PubMed:12699694). The second step, catalyzed by the peptidylglycine amidoglycolate lyase (PAL) domain, is the zinc-dependent cleavage of the N-C-alpha bond, producing the alpha-amidated peptide and glyoxylate (PubMed:12699694). Similarly, catalyzes the two-step conversion of an N-fatty acylglycine to a primary fatty acid amide and glyoxylate (By similarity). NA In the N-terminal section; belongs to the copper type II ascorbate-dependent monooxygenase family.;In the C-terminal section; belongs to the peptidyl-alpha-hydroxyglycine alpha-amidating lyase family. NA PE1 5 +NX_P19022 Cadherin-2 906 99809 4.64 1 Cell surface;Cell junction;Sarcolemma;Cell membrane NA Calcium-dependent cell adhesion protein; preferentially mediates homotypic cell-cell adhesion by dimerization with a CDH2 chain from another cell. Cadherins may thus contribute to the sorting of heterogeneous cell types. Acts as a regulator of neural stem cells quiescence by mediating anchorage of neural stem cells to ependymocytes in the adult subependymal zone: upon cleavage by MMP24, CDH2-mediated anchorage is affected, leading to modulate neural stem cell quiescence. CDH2 may be involved in neuronal recognition mechanism. In hippocampal neurons, may regulate dendritic spine density. Cleaved by MMP24. Ectodomain cleavage leads to the generation of a soluble 90 kDa amino-terminal soluble fragment and a 45 kDa membrane-bound carboxy-terminal fragment 1 (CTF1), which is further cleaved by gamma-secretase into a 35 kDa. Cleavage in neural stem cells by MMP24 affects CDH2-mediated anchorage of neural stem cells to ependymocytes in the adult subependymal zone, leading to modulate neural stem cell quiescence (By similarity).;May be phosphorylated by OBSCN.;CDH2 is phosphorylated by MAPK3 NA Cell adhesion molecules (CAMs);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Adherens junctions interactions;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation;Myogenesis PE1 18 +NX_P19075 Tetraspanin-8 237 26044 5.48 4 Membrane;Nucleoplasm NA NA NA Belongs to the tetraspanin (TM4SF) family. NA PE1 12 +NX_P19086 Guanine nucleotide-binding protein G(z) subunit alpha 355 40924 7.53 0 Membrane;Cytoplasmic vesicle NA Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. NA Belongs to the G-alpha family. G(i/o/t/z) subfamily. Long-term depression;G alpha (i) signalling events;G alpha (s) signalling events;G-protein activation;G alpha (z) signalling events;PLC beta mediated events;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding PE1 22 +NX_P19087 Guanine nucleotide-binding protein G(t) subunit alpha-2 354 40176 5.1 0 NA Achromatopsia 4 Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase. NA Belongs to the G-alpha family. G(i/o/t/z) subfamily. Phototransduction;G alpha (i) signalling events;G-protein activation;Ca2+ pathway;PLC beta mediated events;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding PE1 1 +NX_P19099 Cytochrome P450 11B2, mitochondrial 503 57560 9.47 0 Mitochondrion inner membrane Hyperaldosteronism, familial, 1;Corticosterone methyloxidase 2 deficiency;Corticosterone methyloxidase 1 deficiency A cytochrome P450 monooxygenase that catalyzes the biosynthesis of adrenal mineralocorticoid aldosterone (PubMed:11856349, PubMed:23322723, PubMed:1594605, PubMed:9814506). Catalyzes three sequential oxidative reactions of 11-deoxycorticosterone/21-hydroxyprogesterone, namely 11-beta hydroxylation followed with two successive oxidations at C18 to yield 18-hydroxy and then 18-aldehyde derivatives, resulting in the formation of aldosterone (PubMed:11856349, PubMed:23322723, PubMed:1594605, PubMed:9814506). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) (PubMed:11856349, PubMed:23322723, PubMed:1594605, PubMed:9814506). NA Belongs to the cytochrome P450 family. Steroid biosynthesis.;Steroid hormone biosynthesis;Metabolic pathways;Endogenous sterols;Glucocorticoid biosynthesis;Mineralocorticoid biosynthesis;Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) PE1 8 +NX_P19105 Myosin regulatory light chain 12A 171 19794 4.67 0 NA NA Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion (By similarity). Phosphorylation increases the actin-activated myosin ATPase activity and thereby regulates the contractile activity. It is required to generate the driving force in the migration of the cells but not necessary for localization of myosin-2 at the leading edge (By similarity). NA Focal adhesion;Tight junction;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Ephrin signaling;Smooth Muscle Contraction PE1 18 +NX_P19113 Histidine decarboxylase 662 74141 8.3 0 Nucleus NA Catalyzes the biosynthesis of histamine from histidine. NA Belongs to the group II decarboxylase family. Amine and polyamine biosynthesis; histamine biosynthesis; histamine from L-histidine: step 1/1.;Histidine metabolism;Metabolic pathways;Histidine catabolism PE1 15 +NX_P19174 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 1290 148532 5.73 0 Ruffle;Cytosol;Lamellipodium NA Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades. Becomes activated in response to ligand-mediated activation of receptor-type tyrosine kinases, such as PDGFRA, PDGFRB, FGFR1, FGFR2, FGFR3 and FGFR4. Plays a role in actin reorganization and cell migration. Ubiquitinated by CBLB in activated T-cells.;Tyrosine phosphorylated in response to signaling via activated FLT3, KIT and PDGFRA (By similarity). Tyrosine phosphorylated by activated FGFR1, FGFR2, FGFR3 and FGFR4. Tyrosine phosphorylated by activated FLT1 and KDR. Tyrosine phosphorylated by activated PDGFRB. The receptor-mediated activation of PLCG1 involves its phosphorylation by tyrosine kinases, in response to ligation of a variety of growth factor receptors and immune system receptors. For instance, SYK phosphorylates and activates PLCG1 in response to ligation of the B-cell receptor. May be dephosphorylated by PTPRJ. Phosphorylated by ITK and TXK on Tyr-783 upon TCR activation in T-cells.;PLCG1 is phosphorylated by FGFR4;PLCG1 is phosphorylated by PRKD1 (Phosphoserine:PTM-0253);PLCG1 is phosphorylated by KDR (Phosphotyrosine:PTM-0255);PLCG1 is phosphorylated by FGFR3;PLCG1 is phosphorylated by FGFR1 (Phosphotyrosine:PTM-0255);PLCG1 is phosphorylated by TXK (Phosphotyrosine:PTM-0255);PLCG1 is phosphorylated by FGFR2 NA Inositol phosphate metabolism;Metabolic pathways;ErbB signaling pathway;Calcium signaling pathway;Phosphatidylinositol signaling system;VEGF signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Pathways in cancer;Glioma;Non-small cell lung cancer;ISG15 antiviral mechanism;Generation of second messenger molecules;Phospholipase C-mediated cascade: FGFR1;Phospholipase C-mediated cascade, FGFR2;Phospholipase C-mediated cascade, FGFR3;Phospholipase C-mediated cascade, FGFR4;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;DAP12 signaling;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Role of second messengers in netrin-1 signaling;Role of phospholipids in phagocytosis;Synthesis of IP3 and IP4 in the cytosol;PECAM1 interactions;VEGFR2 mediated cell proliferation;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Downstream signal transduction;Constitutive Signaling by EGFRvIII;Signaling by FGFR4 in disease;DAG and IP3 signaling;PLC-gamma1 signalling;PLCG1 events in ERBB2 signaling;EGFR interacts with phospholipase C-gamma;Signaling by FGFR3 point mutants in cancer;RET signaling;Activated NTRK2 signals through PLCG1;Activated NTRK3 signals through PLCG1;Erythropoietin activates Phospholipase C gamma (PLCG) PE1 20 +NX_P19224 UDP-glucuronosyltransferase 1-6 532 60751 8.66 1 Endoplasmic reticulum membrane;Microsome NA Lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity).;UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. NA Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Glucuronidation PE1 2 +NX_P19235 Erythropoietin receptor 508 55065 4.64 1 Nucleus speckle;Secreted;Cell membrane Erythrocytosis, familial, 1 Receptor for erythropoietin. Mediates erythropoietin-induced erythroblast proliferation and differentiation. Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell types, can also activate STAT1 and STAT3. May also activate the LYN tyrosine kinase.;Acts as a dominant-negative receptor of EPOR-mediated signaling. On EPO stimulation, phosphorylated on C-terminal tyrosine residues by JAK2. The phosphotyrosine motifs are also recruitment sites for several SH2-containing proteins and adapter proteins which mediate cell proliferation. Phosphorylation on Tyr-454 is required for PTPN6 interaction, Tyr-426 for PTPN11. Tyr-426 is also required for SOCS3 binding, but Tyr-454/Tyr-456 motif is the preferred binding site.;Ubiquitination at Lys-281 mediates receptor internalization, whereas ubiquitination at Lys-453 promotes trafficking of activated receptors to the lysosomes for degradation (By similarity). Ubiquitinated by NOSIP; appears to be either multi-monoubiquitinated or polyubiquitinated. Ubiquitination mediates proliferation and survival of EPO-dependent cells.;EPOR is phosphorylated by LYN (Phosphotyrosine:PTM-0255) Belongs to the type I cytokine receptor family. Type 1 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Hematopoietic cell lineage;Erythropoietin activates RAS;Erythropoietin activates Phosphoinositide-3-kinase (PI3K);Signaling by Erythropoietin;Erythropoietin activates Phospholipase C gamma (PLCG);Erythropoietin activates STAT5 PE1 19 +NX_P19237 Troponin I, slow skeletal muscle 187 21692 9.61 0 Nucleoplasm;Nucleolus;Nucleus NA Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. NA Belongs to the troponin I family. Striated Muscle Contraction PE1 1 +NX_P19256 Lymphocyte function-associated antigen 3 250 28147 6.3 1 Cell membrane NA Ligand of the T-lymphocyte CD2 glycoprotein. This interaction is important in mediating thymocyte interactions with thymic epithelial cells, antigen-independent and -dependent interactions of T-lymphocytes with target cells and antigen-presenting cells and the T-lymphocyte rosetting with erythrocytes. In addition, the LFA-3/CD2 interaction may prime response by both the CD2+ and LFA-3+ cells. NA NA Cell adhesion molecules (CAMs);Cell surface interactions at the vascular wall;Neutrophil degranulation PE1 1 +NX_P19320 Vascular cell adhesion protein 1 739 81276 5.14 1 Membrane;Cell junction NA Important in cell-cell recognition. Appears to function in leukocyte-endothelial cell adhesion. Interacts with integrin alpha-4/beta-1 (ITGA4/ITGB1) on leukocytes, and mediates both adhesion and signal transduction. The VCAM1/ITGA4/ITGB1 interaction may play a pathophysiologic role both in immune responses and in leukocyte emigration to sites of inflammation. Sialoglycoprotein. NA Cell adhesion molecules (CAMs);Leukocyte transendothelial migration;African trypanosomiasis;Malaria;HTLV-I infection;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Interferon gamma signaling;Integrin cell surface interactions;Interleukin-4 and Interleukin-13 signaling PE1 1 +NX_P19338 Nucleolin 710 76614 4.6 0 Nucleoplasm;Cytoplasm;Nucleus;Nucleolus NA Nucleolin is the major nucleolar protein of growing eukaryotic cells. It is found associated with intranucleolar chromatin and pre-ribosomal particles. It induces chromatin decondensation by binding to histone H1. It is thought to play a role in pre-rRNA transcription and ribosome assembly. May play a role in the process of transcriptional elongation. Binds RNA oligonucleotides with 5'-UUAGGG-3' repeats more tightly than the telomeric single-stranded DNA 5'-TTAGGG-3' repeats. Symmetrically methylated by PRMT5.;Some glutamate residues are glycylated by TTLL8. This modification occurs exclusively on glutamate residues and results in a glycine chain on the gamma-carboxyl group (By similarity). NA Pathogenic Escherichia coli infection;Major pathway of rRNA processing in the nucleolus and cytosol PE1 2 +NX_P19367 Hexokinase-1 917 102486 6.36 0 Mitochondrion outer membrane;Cytosol;Mitochondrion Retinitis pigmentosa 79;Hexokinase deficiency;Neuropathy, hereditary motor and sensory, Russe type Catalyzes the phosphorylation of various hexoses, such as D-glucose, D-glucosamine, D-fructose, D-mannose and 2-deoxy-D-glucose, to hexose 6-phosphate (D-glucose 6-phosphate, D-glucosamine 6-phosphate, D-fructose 6-phosphate, D-mannose 6-phosphate and 2-deoxy-D-glucose 6-phosphate, respectively) (PubMed:1637300, PubMed:25316723, PubMed:27374331). Does not phosphorylate N-acetyl-D-glucosamine (PubMed:27374331). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (By similarity). Involved in innate immunity and inflammation by acting as a pattern recognition receptor for bacterial peptidoglycan (PubMed:27374331). When released in the cytosol, N-acetyl-D-glucosamine component of bacterial peptidoglycan inhibits the hexokinase activity of HK1 and causes its dissociation from mitochondrial outer membrane, thereby activating the NLRP3 inflammasome (PubMed:27374331). NA Belongs to the hexokinase family. Carbohydrate metabolism; hexose metabolism.;Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 1/4.;Glycolysis / Gluconeogenesis;Fructose and mannose metabolism;Galactose metabolism;Starch and sucrose metabolism;Amino sugar and nucleotide sugar metabolism;Butirosin and neomycin biosynthesis;Metabolic pathways;Insulin signaling pathway;Type II diabetes mellitus;Carbohydrate digestion and absorption;Glycolysis;Defective HK1 causes hexokinase deficiency (HK deficiency) PE1 10 +NX_P19387 DNA-directed RNA polymerase II subunit RPB3 275 31441 4.79 0 Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB3 is part of the core element with the central large cleft and the clamp element that moves to open and close the cleft (By similarity). NA Belongs to the archaeal RpoD/eukaryotic RPB3 RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Huntington's disease;Viral Messenger RNA Synthesis;Transcriptional regulation by small RNAs;PIWI-interacting RNA (piRNA) biogenesis;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;Processing of Capped Intron-Containing Pre-mRNA;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;MicroRNA (miRNA) biogenesis;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Activation of anterior HOX genes in hindbrain development during early embryogenesis;FGFR2 alternative splicing;RNA polymerase II transcribes snRNA genes;Signaling by FGFR2 IIIa TM;TP53 Regulates Transcription of DNA Repair Genes;Estrogen-dependent gene expression PE1 16 +NX_P19388 DNA-directed RNA polymerases I, II, and III subunit RPABC1 210 24551 5.69 0 Nucleoplasm;Nucleus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2E/RPB5 is part of the lower jaw surrounding the central large cleft and thought to grab the incoming DNA template. Seems to be the major component in this process (By similarity). NA Belongs to the archaeal RpoH/eukaryotic RPB5 RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Cytosolic DNA-sensing pathway;Huntington's disease;Viral Messenger RNA Synthesis;Transcriptional regulation by small RNAs;PIWI-interacting RNA (piRNA) biogenesis;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;Processing of Capped Intron-Containing Pre-mRNA;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;Cytosolic sensors of pathogen-associated DNA;MicroRNA (miRNA) biogenesis;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase II Transcription Elongation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;FGFR2 alternative splicing;RNA polymerase II transcribes snRNA genes;Signaling by FGFR2 IIIa TM;TP53 Regulates Transcription of DNA Repair Genes;Estrogen-dependent gene expression PE1 19 +NX_P19397 Leukocyte surface antigen CD53 219 24341 7.48 4 Membrane;Cell junction;Cell membrane NA Required for efficient formation of myofibers in regenerating muscle at the level of cell fusion. May be involved in growth regulation in hematopoietic cells (By similarity). NA Belongs to the tetraspanin (TM4SF) family. Neutrophil degranulation PE1 1 +NX_P19404 NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial 249 27392 8.22 0 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex I deficiency, nuclear type 7 Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). NA Belongs to the complex I 24 kDa subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 18 +NX_P19419 ETS domain-containing protein Elk-1 428 44888 6.42 0 Nucleoplasm;Nucleus NA Transcription factor that binds to purine-rich DNA sequences. Forms a ternary complex with SRF and the ETS and SRF motifs of the serum response element (SRE) on the promoter region of immediate early genes such as FOS and IER2. Induces target gene transcription upon JNK-signaling pathway stimulation (By similarity). Sumoylation represses transcriptional activator activity as it results in recruitment of HDAC2 to target gene promoters which leads to decreased histone acetylation and reduced transactivator activity. It also regulates nuclear retention.;On mitogenic stimulation, phosphorylated on C-terminal serine and threonine residues by MAPK1. Ser-383 and Ser-389 are the preferred sites for MAPK1. In vitro, phosphorylation by MAPK1 potentiates ternary complex formation with the serum responses factors, SRE and SRF. Also phosphorylated on Ser-383 by MAPK8 and/or MAKP9. Phosphorylation leads to loss of sumoylation and restores transcriptional activator activity. Phosphorylated and activated by CAMK4, MAPK11, MAPK12 and MAPK14. Upon bFGF stimulus, phosphorylated by PAK1 (By similarity).;ELK1 is phosphorylated by MAPK14 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);ELK1 is phosphorylated by MAPK8 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);ELK1 is phosphorylated by MAPK11 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the ETS family. MAPK signaling pathway;ErbB signaling pathway;Focal adhesion;Insulin signaling pathway;GnRH signaling pathway;Prion diseases;Leishmaniasis;HTLV-I infection;Endometrial cancer;ERK/MAPK targets;Estrogen-dependent nuclear events downstream of ESR-membrane signaling PE1 X +NX_P19429 Troponin I, cardiac muscle 210 24008 9.87 0 Cytoplasmic vesicle;Cytosol Cardiomyopathy, familial restrictive 1;Cardiomyopathy, familial hypertrophic 7;Cardiomyopathy, dilated 2A;Cardiomyopathy, dilated 1FF Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. Phosphorylated at Ser-42 and Ser-44 by PRKCE; phosphorylation increases myocardium contractile dysfunction (By similarity). Phosphorylated at Ser-23 and Ser-24 by PRKD1; phosphorylation reduces myofilament calcium sensitivity. Phosphorylated preferentially at Thr-31. Phosphorylation by STK4/MST1 alters its binding affinity to TNNC1 (cardiac Tn-C) and TNNT2 (cardiac Tn-T).;TNNI3 is phosphorylated by PRKCE (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the troponin I family. Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;Striated Muscle Contraction;Ion homeostasis PE1 19 +NX_P19438 Tumor necrosis factor receptor superfamily member 1A 455 50495 6.23 1 Cell membrane;Secreted;Golgi apparatus membrane Multiple sclerosis 5;Familial hibernian fever Receptor for TNFSF2/TNF-alpha and homotrimeric TNFSF1/lymphotoxin-alpha. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Contributes to the induction of non-cytocidal TNF effects including anti-viral state and activation of the acid sphingomyelinase. The soluble form is produced from the membrane form by proteolytic processing. NA MAPK signaling pathway;Cytokine-cytokine receptor interaction;Apoptosis;Osteoclast differentiation;Adipocytokine signaling pathway;Alzheimer's disease;Amyotrophic lateral sclerosis (ALS);Chagas disease (American trypanosomiasis);Toxoplasmosis;Tuberculosis;Hepatitis C;Influenza A;HTLV-I infection;Herpes simplex infection;TNFs bind their physiological receptors;TNFR1-induced proapoptotic signaling;TNF signaling;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;TNFR1-mediated ceramide production;Interleukin-10 signaling PE1 12 +NX_P19440 Glutathione hydrolase 1 proenzyme 569 61410 6.65 1 Cell membrane Glutathionuria Seems to be inactive.;Cleaves the gamma-glutamyl bond of extracellular glutathione (gamma-Glu-Cys-Gly), glutathione conjugates, and other gamma-glutamyl compounds. The metabolism of glutathione releases free glutamate and the dipeptide cysteinyl-glycine, which is hydrolyzed to cysteine and glycine by dipeptidases. In the presence of high concentrations of dipeptides and some amino acids, can also catalyze a transpeptidation reaction, transferring the gamma-glutamyl moiety to an acceptor amino acid to form a new gamma-glutamyl compound. Initiates extracellular glutathione (GSH) breakdown, provides cells with a local cysteine supply and contributes to maintain intracellular GSH level. It is part of the cell antioxidant defense mechanism. Cleaved by autocatalysis into a large and a small subunit and the autocatalytic cleavage is essential to the functional activation of the enzyme.;N-glycosylated on both chains. Contains hexoses, hexosamines and sialic acid residues. Glycosylation profiles tested in kidney and liver tissues reveal the presence of tissue-specific and site-specific glycan composition, despite the overlap in composition among the N-glycans. A total of 36 glycan compositions, with 40 unique structures are observed. Up to 15 different glycans are observed at a single site, with site-specific variation in glycan composition. The difference in glycosylation profiles in the 2 tissues do not affect the enzyme activity. Belongs to the gamma-glutamyltransferase family. Sulfur metabolism; glutathione metabolism.;Taurine and hypotaurine metabolism;Cyanoamino acid metabolism;Glutathione metabolism;Arachidonic acid metabolism;Metabolic pathways;Aflatoxin activation and detoxification;Glutathione synthesis and recycling;Synthesis of Leukotrienes (LT) and Eoxins (EX);Defective GGT1 causes Glutathionuria (GLUTH);Defective GGT1 causes Glutathionuria (GLUTH) PE1 22 +NX_P19447 General transcription and DNA repair factor IIH helicase subunit XPB 782 89278 6.83 0 Nucleoplasm;Nucleus Xeroderma pigmentosum complementation group B;Trichothiodystrophy 2, photosensitive ATP-dependent 3'-5' DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATPase activity of XPB/ERCC3, but not its helicase activity, is required for DNA opening. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. The ATP-dependent helicase activity of XPB/ERCC3 is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. NA Belongs to the helicase family. RAD25/XPB subfamily. Basal transcription factors;Nucleotide excision repair;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Tat-mediated elongation of the HIV-1 transcript;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER;TP53 Regulates Transcription of DNA Repair Genes PE1 2 +NX_P19474 E3 ubiquitin-protein ligase TRIM21 475 54170 5.98 0 Cytoplasm;Nucleoplasm;Autophagosome;P-body;Nucleus NA E3 ubiquitin-protein ligase whose activity is dependent on E2 enzymes, UBE2D1, UBE2D2, UBE2E1 and UBE2E2. Forms a ubiquitin ligase complex in cooperation with the E2 UBE2D2 that is used not only for the ubiquitination of USP4 and IKBKB but also for its self-ubiquitination. Component of cullin-RING-based SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes such as SCF(SKP2)-like complexes. A TRIM21-containing SCF(SKP2)-like complex is shown to mediate ubiquitination of CDKN1B ('Thr-187' phosphorylated-form), thereby promoting its degradation by the proteasome. Monoubiquitinates IKBKB that will negatively regulates Tax-induced NF-kappa-B signaling. Negatively regulates IFN-beta production post-pathogen recognition by polyubiquitin-mediated degradation of IRF3. Mediates the ubiquitin-mediated proteasomal degradation of IgG1 heavy chain, which is linked to the VCP-mediated ER-associated degradation (ERAD) pathway. Promotes IRF8 ubiquitination, which enhanced the ability of IRF8 to stimulate cytokine genes transcription in macrophages. Plays a role in the regulation of the cell cycle progression. Enhances the decapping activity of DCP2. Exists as a ribonucleoprotein particle present in all mammalian cells studied and composed of a single polypeptide and one of four small RNA molecules. At least two isoforms are present in nucleated and red blood cells, and tissue specific differences in RO/SSA proteins have been identified. The common feature of these proteins is their ability to bind HY RNAs.2. Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma. Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1 and ATG8 family members and recognizes specific autophagy targets, thus coordinating target recognition with assembly of the autophagic apparatus and initiation of autophagy. Acts as an autophagy receptor for the degradation of IRF3, hence attenuating type I interferon (IFN)-dependent immune responses (PubMed:26347139). Autoubiquitinated; does not lead to its proteasomal degradation. Deubiquitinated by USP4; leading to its stabilization. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Systemic lupus erythematosus;Antigen processing: Ubiquitination & Proteasome degradation;Interferon gamma signaling;STING mediated induction of host immune responses;Regulation of innate immune responses to cytosolic DNA PE1 11 +NX_P19484 Transcription factor EB 476 52865 5.87 0 Cytoplasm;Nucleus NA Transcription factor that specifically recognizes and binds E-box sequences (5'-CANNTG-3'). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFE3 or MITF. In association with TFE3, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity. Specifically recognizes and binds the CLEAR-box sequence (5'-GTCACGTGAC-3') present in the regulatory region of many lysosomal genes, leading to activate their expression. It thereby plays a central role in expression of lysosomal genes. Acts as a positive regulator of autophagy by promoting expression of genes involved in autophagy. Specifically recognizes the gamma-E3 box, a subset of E-boxes, present in the heavy-chain immunoglobulin enhancer. Plays a role in the signal transduction processes required for normal vascularization of the placenta. Regulates lysosomal positioning in response to nutrient deprivation by promoting the expression of PIP4P1 (PubMed:29146937). Sumoylated; does not affect dimerization with MITF. Belongs to the MiT/TFE family. NA PE1 6 +NX_P19525 Interferon-induced, double-stranded RNA-activated protein kinase 551 62094 8.58 0 Cytoplasm;Cytosol;Perinuclear region;Nucleus NA IFN-induced dsRNA-dependent serine/threonine-protein kinase which plays a key role in the innate immune response to viral infection and is also involved in the regulation of signal transduction, apoptosis, cell proliferation and differentiation. Exerts its antiviral activity on a wide range of DNA and RNA viruses including hepatitis C virus (HCV), hepatitis B virus (HBV), measles virus (MV) and herpes simplex virus 1 (HHV-1). Inhibits viral replication via phosphorylation of the alpha subunit of eukaryotic initiation factor 2 (EIF2S1), this phosphorylation impairs the recycling of EIF2S1 between successive rounds of initiation leading to inhibition of translation which eventually results in shutdown of cellular and viral protein synthesis. Also phosphorylates other substrates including p53/TP53, PPP2R5A, DHX9, ILF3, IRS1 and the HHV-1 viral protein US11. In addition to serine/threonine-protein kinase activity, also has tyrosine-protein kinase activity and phosphorylates CDK1 at 'Tyr-4' upon DNA damage, facilitating its ubiquitination and proteosomal degradation. Either as an adapter protein and/or via its kinase activity, can regulate various signaling pathways (p38 MAP kinase, NF-kappa-B and insulin signaling pathways) and transcription factors (JUN, STAT1, STAT3, IRF1, ATF3) involved in the expression of genes encoding proinflammatory cytokines and IFNs. Activates the NF-kappa-B pathway via interaction with IKBKB and TRAF family of proteins and activates the p38 MAP kinase pathway via interaction with MAP2K6. Can act as both a positive and negative regulator of the insulin signaling pathway (ISP). Negatively regulates ISP by inducing the inhibitory phosphorylation of insulin receptor substrate 1 (IRS1) at 'Ser-312' and positively regulates ISP via phosphorylation of PPP2R5A which activates FOXO1, which in turn up-regulates the expression of insulin receptor substrate 2 (IRS2). Can regulate NLRP3 inflammasome assembly and the activation of NLRP3, NLRP1, AIM2 and NLRC4 inflammasomes. Can trigger apoptosis via FADD-mediated activation of CASP8. Plays a role in the regulation of the cytoskeleton by binding to gelsolin (GSN), sequestering the protein in an inactive conformation away from actin. Autophosphorylated on several Ser, Thr and Tyr residues. Autophosphorylation of Thr-451 is dependent on Thr-446 and is stimulated by dsRNA binding and dimerization. Autophosphorylation apparently leads to the activation of the kinase. Tyrosine autophosphorylation is essential for efficient dsRNA-binding, dimerization, and kinase activation.;EIF2AK2 is phosphorylated by JAK1 (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. GCN2 subfamily. Protein processing in endoplasmic reticulum;Hepatitis C;Measles;Influenza A;Herpes simplex infection;ISG15 antiviral mechanism;Inhibition of PKR PE1 2 +NX_P19526 Galactoside 2-alpha-L-fucosyltransferase 1 365 41251 6.92 1 Golgi stack membrane NA Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Gal-beta-) called the H antigen which is an essential substrate for the final step in the soluble A and B antigen synthesis pathway. NA Belongs to the glycosyltransferase 11 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - lacto and neolacto series;Glycosphingolipid biosynthesis - globo series;Metabolic pathways;ABO blood group biosynthesis PE1 19 +NX_P19532 Transcription factor E3 575 61521 5.41 0 Nucleoplasm;Cytosol;Nucleus NA Transcription factor that specifically recognizes and binds E-box sequences (5'-CANNTG-3') (By similarity). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF (By similarity). In association with TFEB, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity (By similarity). Specifically recognizes the MUE3 box, a subset of E-boxes, present in the immunoglobulin enhancer (PubMed:2338243). It also binds very well to a USF/MLTF site (PubMed:2338243). May regulate lysosomal positioning in response to nutrient deprivation by promoting the expression of PIP4P1 (PubMed:29146937). Sumoylated; does not affect dimerization with MITF. Belongs to the MiT/TFE family. NA PE1 X +NX_P19544 Wilms tumor protein 449 49188 9.23 0 Cytoplasm;Nucleus speckle;Nucleolus;Nucleoplasm;Nucleus Nephrotic syndrome 4;Frasier syndrome;Mesothelioma, malignant;Denys-Drash syndrome;Wilms tumor 1;Meacham syndrome Has lower affinity for DNA, and can bind RNA (PubMed:19123921).;Transcription factor that plays an important role in cellular development and cell survival (PubMed:7862533). Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3' (PubMed:7862533, PubMed:17716689, PubMed:25258363). Regulates the expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system. It has a tumor suppressor as well as an oncogenic role in tumor formation. Function may be isoform-specific: isoforms lacking the KTS motif may act as transcription factors (PubMed:15520190). Isoforms containing the KTS motif may bind mRNA and play a role in mRNA metabolism or splicing (PubMed:16934801). NA Belongs to the EGR C2H2-type zinc-finger protein family. NA PE1 11 +NX_P19622 Homeobox protein engrailed-2 333 34211 9.49 0 Nucleoplasm;Nucleolus;Nucleus NA NA NA Belongs to the engrailed homeobox family. NA PE1 7 +NX_P19623 Spermidine synthase 302 33825 5.3 0 Nucleoplasm;Cytosol NA Catalyzes the production of spermidine from putrescine and decarboxylated S-adenosylmethionine (dcSAM). Has a strong preference for putrescine as substrate, and has very low activity towards 1,3-diaminopropane. Has extremely low activity towards spermidine. NA Belongs to the spermidine/spermine synthase family. Amine and polyamine biosynthesis; spermidine biosynthesis; spermidine from putrescine: step 1/1.;Cysteine and methionine metabolism;Arginine and proline metabolism;beta-Alanine metabolism;Glutathione metabolism;Metabolic pathways;Metabolism of polyamines PE1 1 +NX_P19634 Sodium/hydrogen exchanger 1 815 90763 6.74 12 Membrane;Endoplasmic reticulum membrane;Cell membrane Lichtenstein-Knorr syndrome Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction. Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is reduced by CHP1 (By similarity).;O-glycosylated. Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. Cardiac muscle contraction;Regulation of actin cytoskeleton;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Bile secretion;Hyaluronan uptake and degradation;Sodium/Proton exchangers PE1 1 +NX_P19652 Alpha-1-acid glycoprotein 2 201 23603 5.03 0 Secreted NA Functions as transport protein in the blood stream. Binds various hydrophobic ligands in the interior of its beta-barrel domain. Also binds synthetic drugs and influences their distribution and availability. Appears to function in modulating the activity of the immune system during the acute-phase reaction. N-glycosylated. N-glycan heterogeneity at Asn-33: Hex5HexNAc4 (minor), Hex6HexNAc5 (major) and dHex1Hex6HexNAc5 (minor). Belongs to the calycin superfamily. Lipocalin family. Platelet degranulation;Neutrophil degranulation PE1 9 +NX_P19784 Casein kinase II subunit alpha' 350 41213 8.65 0 NA NA Catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine. Regulates numerous cellular processes, such as cell cycle progression, apoptosis and transcription, as well as viral infection. May act as a regulatory node which integrates and coordinates numerous signals leading to an appropriate cellular response. During mitosis, functions as a component of the p53/TP53-dependent spindle assembly checkpoint (SAC) that maintains cyclin-B-CDK1 activity and G2 arrest in response to spindle damage. Also required for p53/TP53-mediated apoptosis, phosphorylating 'Ser-392' of p53/TP53 following UV irradiation. Can also negatively regulate apoptosis. Phosphorylates the caspases CASP9 and CASP2 and the apoptotic regulator NOL3. Phosphorylation protects CASP9 from cleavage and activation by CASP8, and inhibits the dimerization of CASP2 and activation of CASP8. Regulates transcription by direct phosphorylation of RNA polymerases I, II, III and IV. Also phosphorylates and regulates numerous transcription factors including NF-kappa-B, STAT1, CREB1, IRF1, IRF2, ATF1, SRF, MAX, JUN, FOS, MYC and MYB. Phosphorylates Hsp90 and its co-chaperones FKBP4 and CDC37, which is essential for chaperone function. Regulates Wnt signaling by phosphorylating CTNNB1 and the transcription factor LEF1. Acts as an ectokinase that phosphorylates several extracellular proteins. During viral infection, phosphorylates various proteins involved in the viral life cycles of EBV, HSV, HBV, HCV, HIV, CMV and HPV. NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CK2 subfamily. Ribosome biogenesis in eukaryotes;Wnt signaling pathway;Adherens junction;Tight junction;Measles;Herpes simplex infection;Synthesis of PC;Signal transduction by L1;Condensation of Prometaphase Chromosomes;WNT mediated activation of DVL;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Regulation of TP53 Activity through Phosphorylation;Receptor Mediated Mitophagy;Regulation of PTEN stability and activity;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 16 +NX_P19793 Retinoic acid receptor RXR-alpha 462 50811 7.92 0 Golgi apparatus;Cytoplasm;Mitochondrion;Nucleoplasm;Nucleus NA Receptor for retinoic acid that acts as a transcription factor (PubMed:11162439, PubMed:11915042). Forms homo- or heterodimers with retinoic acid receptors (RARs) and binds to target response elements in response to their ligands, all-trans or 9-cis retinoic acid, to regulate gene expression in various biological processes (PubMed:10195690, PubMed:11162439, PubMed:11915042, PubMed:28167758, PubMed:17761950, PubMed:16107141, PubMed:18800767, PubMed:19167885). The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5 to regulate transcription (PubMed:10195690, PubMed:11162439, PubMed:11915042, PubMed:17761950, PubMed:28167758). The high affinity ligand for retinoid X receptors (RXRs) is 9-cis retinoic acid (PubMed:1310260). In the absence of ligand, the RXR-RAR heterodimers associate with a multiprotein complex containing transcription corepressors that induce histone deacetylation, chromatin condensation and transcriptional suppression (PubMed:20215566). On ligand binding, the corepressors dissociate from the receptors and coactivators are recruited leading to transcriptional activation (PubMed:20215566, PubMed:9267036). Serves as a common heterodimeric partner for a number of nuclear receptors, such as RARA, RARB and PPARA (PubMed:10195690, PubMed:11915042, PubMed:28167758, PubMed:29021580). The RXRA/RARB heterodimer can act as a transcriptional repressor or transcriptional activator, depending on the RARE DNA element context (PubMed:29021580). The RXRA/PPARA heterodimer is required for PPARA transcriptional activity on fatty acid oxidation genes such as ACOX1 and the P450 system genes (PubMed:10195690). Together with RARA, positively regulates microRNA-10a expression, thereby inhibiting the GATA6/VCAM1 signaling response to pulsatile shear stress in vascular endothelial cells (PubMed:28167758). Acts as an enhancer of RARA binding to RARE DNA element (PubMed:28167758). May facilitate the nuclear import of heterodimerization partners such as VDR and NR4A1 (PubMed:12145331, PubMed:15509776). Promotes myelin debris phagocytosis and remyelination by macrophages (PubMed:26463675). Plays a role in the attenuation of the innate immune system in response to viral infections, possibly by negatively regulating the transcription of antiviral genes such as type I IFN genes (PubMed:25417649). Involved in the regulation of calcium signaling by repressing ITPR2 gene expression, thereby controlling cellular senescence (PubMed:30216632). Acetylated by EP300; acetylation enhances DNA binding and transcriptional activity.;Phosphorylated on serine and threonine residues mainly in the N-terminal modulating domain (By similarity). Constitutively phosphorylated on Ser-21 in the presence or absence of ligand (By similarity). Under stress conditions, hyperphosphorylated by activated JNK on Ser-56, Ser-70, Thr-82 and Ser-260 (By similarity). Phosphorylated on Ser-27, in vitro, by PKA (PubMed:11162439). This phosphorylation is required for repression of cAMP-mediated transcriptional activity of RARA (PubMed:11162439).;Sumoylation negatively regulates transcriptional activity. Desumoylated specifically by SENP6. Belongs to the nuclear hormone receptor family. NR2 subfamily. PPAR signaling pathway;Adipocytokine signaling pathway;Bile secretion;Hepatitis C;Pathways in cancer;Thyroid cancer;Small cell lung cancer;Non-small cell lung cancer;PPARA activates gene expression;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 27-hydroxycholesterol;RORA activates gene expression;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;Nuclear Receptor transcription pathway;Signaling by Retinoic Acid;Regulation of pyruvate dehydrogenase (PDH) complex;Endogenous sterols;Activation of gene expression by SREBF (SREBP);Transcriptional regulation of white adipocyte differentiation;Import of palmitoyl-CoA into the mitochondrial matrix;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);Recycling of bile acids and salts;Synthesis of bile acids and bile salts;Activation of anterior HOX genes in hindbrain development during early embryogenesis;SUMOylation of intracellular receptors;Transcriptional regulation of granulopoiesis PE1 9 +NX_P19801 Amiloride-sensitive amine oxidase [copper-containing] 751 85378 6.6 0 Extracellular space NA Catalyzes the degradation of compounds such as putrescine, histamine, spermine, and spermidine, substances involved in allergic and immune responses, cell proliferation, tissue differentiation, tumor formation, and possibly apoptosis. Placental DAO is thought to play a role in the regulation of the female reproductive function. Topaquinone (TPQ) is generated by copper-dependent autoxidation of a specific tyrosyl residue. Belongs to the copper/topaquinone oxidase family. Arginine and proline metabolism;Histidine metabolism;Tryptophan metabolism;Phase I - Functionalization of compounds;Neutrophil degranulation PE1 7 +NX_P19823 Inter-alpha-trypsin inhibitor heavy chain H2 946 106463 6.4 0 Golgi apparatus;Secreted NA May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes. Heavy chains are linked to bikunin via chondroitin 4-sulfate esterified to the alpha-carboxyl of the C-terminal aspartate after propeptide cleavage.;N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.;Phosphorylated by FAM20C in the extracellular medium. Belongs to the ITIH family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 10 +NX_P19827 Inter-alpha-trypsin inhibitor heavy chain H1 911 101389 6.31 0 Cytoplasmic vesicle;Secreted NA Contains a potential peptide which could stimulate a broad spectrum of phagocytotic cells.;May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes. The S-linked glycan is composed of two 6-carbon sugars, possibly Glc or Gal.;Heavy chains are linked to bikunin via chondroitin 4-sulfate esterified to the alpha-carboxyl of the C-terminal aspartate after propeptide cleavage. Belongs to the ITIH family. NA PE1 3 +NX_P19835 Bile salt-activated lipase 753 79322 5.13 0 Secreted Maturity-onset diabetes of the young 8 with exocrine dysfunction Catalyzes the hydrolysis of a wide range of substrates including cholesteryl esters, phospholipids, lysophospholipids, di- and tri-acylglycerols, and fatty acid esters of hydroxy fatty acids (FAHFAs) (PubMed:8471055, PubMed:27509211, PubMed:10220579, PubMed:27650499). Preferentially hydrolyzes FAHFAs with the ester bond further away from the carboxylate. Unsaturated FAHFAs are hydrolyzed more quickly than saturated FAHFAs (By similarity). Has an essential role in the complete digestion of dietary lipids and their intestinal absorption, along with the absorption of fat-soluble vitamins (PubMed:8471055, PubMed:27509211, PubMed:10220579, PubMed:27650499). N- and O-glycosylated. Belongs to the type-B carboxylesterase/lipase family. Steroid biosynthesis;Glycerolipid metabolism;Metabolic pathways;Pancreatic secretion;Fat digestion and absorption;Digestion of dietary lipid PE1 9 +NX_P19838 Nuclear factor NF-kappa-B p105 subunit 968 105356 5.2 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol Immunodeficiency, common variable, 12 NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52 and the heterodimeric p65-p50 complex appears to be most abundant one. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. NF-kappa-B heterodimeric p65-p50 and RelB-p50 complexes are transcriptional activators. The NF-kappa-B p50-p50 homodimer is a transcriptional repressor, but can act as a transcriptional activator when associated with BCL3. NFKB1 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p105 and generation of p50 by a cotranslational processing. The proteasome-mediated process ensures the production of both p50 and p105 and preserves their independent function, although processing of NFKB1/p105 also appears to occur post-translationally. P50 binds to the kappa-B consensus sequence 5'-GGRNNYYCC-3', located in the enhancer region of genes involved in immune response and acute phase reactions. In a complex with MAP3K8, NFKB1/p105 represses MAP3K8-induced MAPK signaling; active MAP3K8 is released by proteasome-dependent degradation of NFKB1/p105. The covalent modification of cysteine by 15-deoxy-Delta12,14-prostaglandin-J2 is autocatalytic and reversible. It may occur as an alternative to other cysteine modifications, such as S-nitrosylation and S-palmitoylation.;S-nitrosylation of Cys-61 affects DNA binding.;While translation occurs, the particular unfolded structure after the GRR repeat promotes the generation of p50 making it an acceptable substrate for the proteasome. This process is known as cotranslational processing. The processed form is active and the unprocessed form acts as an inhibitor (I kappa B-like), being able to form cytosolic complexes with NF-kappa B, trapping it in the cytoplasm. Complete folding of the region downstream of the GRR repeat precludes processing.;Polyubiquitination seems to allow p105 processing.;Phosphorylation at 'Ser-903' and 'Ser-907' primes p105 for proteolytic processing in response to TNF-alpha stimulation. Phosphorylation at 'Ser-927' and 'Ser-932' are required for BTRC/BTRCP-mediated proteolysis.;NFKB1 is phosphorylated by RPS6KA1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA MAPK signaling pathway;Chemokine signaling pathway;Apoptosis;Osteoclast differentiation;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;T cell receptor signaling pathway;B cell receptor signaling pathway;Neurotrophin signaling pathway;Adipocytokine signaling pathway;Epithelial cell signaling in Helicobacter pylori infection;Shigellosis;Salmonella infection;Pertussis;Legionellosis;Leishmaniasis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Amoebiasis;Tuberculosis;Hepatitis C;Measles;Influenza A;HTLV-I infection;Herpes simplex infection;Pathways in cancer;Pancreatic cancer;Prostate cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Small cell lung cancer;Activation of NF-kappaB in B cells;FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;PKMTs methylate histone lysines;Downstream TCR signaling;The NLRP3 inflammasome;Senescence-Associated Secretory Phenotype (SASP);RIP-mediated NFkB activation via ZBP1;DEx/H-box helicases activate type I IFN and inflammatory cytokines production;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated NF-kB activation;Transcriptional regulation of white adipocyte differentiation;CLEC7A/inflammasome pathway;CD209 (DC-SIGN) signaling;IkBA variant leads to EDA-ID;Regulated proteolysis of p75NTR;NF-kB is activated and signals survival;Interleukin-1 processing;MAP3K8 (TPL2)-dependent MAPK1/3 activation;Neutrophil degranulation;Interleukin-1 signaling PE1 4 +NX_P19875 C-X-C motif chemokine 2 107 11389 10.57 0 Secreted NA Produced by activated monocytes and neutrophils and expressed at sites of inflammation. Hematoregulatory chemokine, which, in vitro, suppresses hematopoietic progenitor cell proliferation. GRO-beta(5-73) shows a highly enhanced hematopoietic activity. The N-terminal processed form GRO-beta(5-73) is produced by proteolytic cleavage after secretion from bone marrow stromal cells. Belongs to the intercrine alpha (chemokine CxC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;NOD-like receptor signaling pathway;Salmonella infection;Legionellosis;G alpha (i) signalling events;Chemokine receptors bind chemokines;Interleukin-10 signaling PE1 4 +NX_P19876 C-X-C motif chemokine 3 107 11342 10.4 0 Secreted NA Ligand for CXCR2 (By similarity). Has chemotactic activity for neutrophils. May play a role in inflammation and exert its effects on endothelial cells in an autocrine fashion. In vitro, the processed form GRO-gamma(5-73) shows a fivefold higher chemotactic activity for neutrophilic granulocytes. N-terminal processed form GRO-gamma(5-73) is produced by proteolytic cleavage after secretion from peripheral blood monocytes. Belongs to the intercrine alpha (chemokine CxC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Salmonella infection;Legionellosis;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 4 +NX_P19878 Neutrophil cytosol factor 2 526 59762 5.88 0 Cytoplasm;Cytosol;Nucleolus Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production). NA Belongs to the NCF2/NOXA1 family. Phagosome;Osteoclast differentiation;Leukocyte transendothelial migration;Leishmaniasis;Detoxification of Reactive Oxygen Species;VEGFA-VEGFR2 Pathway;ROS and RNS production in phagocytes;Cross-presentation of particulate exogenous antigens (phagosomes);RHO GTPases Activate NADPH Oxidases PE1 1 +NX_P19883 Follistatin 344 38007 5.53 0 Secreted NA Binds directly to activin and functions as an activin antagonist. Specific inhibitor of the biosynthesis and secretion of pituitary follicle stimulating hormone (FSH). NA NA TGF-beta signaling pathway;Antagonism of Activin by Follistatin PE1 5 +NX_P19957 Elafin 117 12270 9.14 0 Secreted;Cell membrane NA Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis. Has been shown to inhibit the alpha-4-beta-2/CHRNA2-CHRNB2 nicotinic acetylcholine receptor and to produce a weak inhibition on Kv11.1/KCNH2/ERG1 and on the transient receptor potential cation channel subfamily V member 1 (TRPV1) (PubMed:29483648). NA NA Antimicrobial peptides;Formation of the cornified envelope PE1 20 +NX_P19961 Alpha-amylase 2B 511 57710 6.64 0 Secreted NA NA NA Belongs to the glycosyl hydrolase 13 family. Starch and sucrose metabolism;Metabolic pathways;Pancreatic secretion;Carbohydrate digestion and absorption;Digestion of dietary carbohydrate PE1 1 +NX_P19971 Thymidine phosphorylase 482 49955 5.36 0 Golgi apparatus;Nucleus Mitochondrial DNA depletion syndrome 1, MNGIE type May have a role in maintaining the integrity of the blood vessels. Has growth promoting activity on endothelial cells, angiogenic activity in vivo and chemotactic activity on endothelial cells in vitro.;Catalyzes the reversible phosphorolysis of thymidine. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis. NA Belongs to the thymidine/pyrimidine-nucleoside phosphorylase family. Pyrimidine metabolism; dTMP biosynthesis via salvage pathway; dTMP from thymine: step 1/2.;Pyrimidine metabolism;Drug metabolism - other enzymes;Metabolic pathways;Bladder cancer;Pyrimidine catabolism;Pyrimidine salvage PE1 22 +NX_P20020 Plasma membrane calcium-transporting ATPase 1 1220 134685 5.65 10 Basolateral cell membrane;Synapse;Cell membrane NA Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis. Plays a role in blood pressure regulation through regulation of intracellular calcium concentration and nitric oxide production leading to regulation of vascular smooth muscle cells vasoconstriction. Positively regulates bone mineralization through absorption of calcium from the intestine. Plays dual roles in osteoclast differentiation and survival by regulating RANKL-induced calcium oscillations in preosteoclasts and mediating calcium extrusion in mature osteoclasts (By similarity). Regulates insulin sensitivity through calcium/calmodulin signaling pathway by regulating AKT1 activation and NOS3 activation in endothelial cells (PubMed:29104511). NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily. Calcium signaling pathway;Endocrine and other factor-regulated calcium reabsorption;Salivary secretion;Pancreatic secretion;Mineral absorption;Ion transport by P-type ATPases;Reduction of cytosolic Ca++ levels;Ion homeostasis PE1 12 +NX_P20023 Complement receptor type 2 1033 112916 7.74 1 Cell membrane Immunodeficiency, common variable, 7;Systemic lupus erythematosus 9 (Microbial infection) Acts as a receptor for Epstein-Barr virus.;Receptor for complement C3, for the Epstein-Barr virus on human B-cells and T-cells and for HNRNPU (PubMed:7753047). Participates in B lymphocytes activation (PubMed:7753047). NA Belongs to the receptors of complement activation (RCA) family. Complement and coagulation cascades;Hematopoietic cell lineage;B cell receptor signaling pathway;Regulation of Complement cascade PE1 1 +NX_P20036 HLA class II histocompatibility antigen, DP alpha 1 chain 260 29381 5.07 1 Endoplasmic reticulum membrane;Endosome membrane;Cell membrane;Lysosome membrane;trans-Golgi network membrane;Cytoplasmic vesicle NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. NA Belongs to the MHC class II family. Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Intestinal immune network for IgA production;Type I diabetes mellitus;Leishmaniasis;Toxoplasmosis;Staphylococcus aureus infection;Tuberculosis;Influenza A;HTLV-I infection;Herpes simplex infection;Asthma;Autoimmune thyroid disease;Systemic lupus erythematosus;Rheumatoid arthritis;Allograft rejection;Graft-versus-host disease;Viral myocarditis;MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_P20039 HLA class II histocompatibility antigen, DRB1-11 beta chain 266 30160 6.71 1 Endoplasmic reticulum membrane;Cell membrane;Endosome membrane;trans-Golgi network membrane;Lysosome membrane;Late endosome membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II. Belongs to the MHC class II family. MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_P20042 Eukaryotic translation initiation factor 2 subunit 2 333 38388 5.6 0 Endoplasmic reticulum;Cytoplasm;Nucleolus NA EIF-2 functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S preinitiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyzed by eIF-2B. NA Belongs to the eIF-2-beta/eIF-5 family. RNA transport;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Recycling of eIF2:GDP;ABC-family proteins mediated transport;PERK regulates gene expression PE1 20 +NX_P20061 Transcobalamin-1 433 48207 4.96 0 Secreted NA Binds vitamin B12 with femtomolar affinity and protects it from the acidic environment of the stomach. Contains about 30% carbohydrates. Belongs to the eukaryotic cobalamin transport proteins family. Cobalamin (Cbl, vitamin B12) transport and metabolism;Neutrophil degranulation PE1 11 +NX_P20062 Transcobalamin-2 427 47535 6.52 0 Cytosol;Secreted Transcobalamin II deficiency Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells. NA Belongs to the eukaryotic cobalamin transport proteins family. Vitamin digestion and absorption;Cobalamin (Cbl, vitamin B12) transport and metabolism;Defective CD320 causes methylmalonic aciduria;Defective TCN2 causes hereditary megaloblastic anemia PE1 22 +NX_P20073 Annexin A7 488 52739 5.52 0 Nucleoplasm;Cytosol NA Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis. NA Belongs to the annexin family. NA PE1 10 +NX_P20132 L-serine dehydratase/L-threonine deaminase 328 34625 8.15 0 Cytoplasm;Cytosol;Mitochondrion NA NA NA Belongs to the serine/threonine dehydratase family. Carbohydrate biosynthesis; gluconeogenesis.;Glycine, serine and threonine metabolism;Cysteine and methionine metabolism;Metabolic pathways;Threonine catabolism PE1 12 +NX_P20138 Myeloid cell surface antigen CD33 364 39825 8.68 1 Nucleoplasm;Peroxisome;Cell membrane NA Sialic-acid-binding immunoglobulin-like lectin (Siglec) that plays a role in mediating cell-cell interactions and in maintaining immune cells in a resting state (PubMed:10611343, PubMed:15597323, PubMed:11320212). Preferentially recognizes and binds alpha-2,3- and more avidly alpha-2,6-linked sialic acid-bearing glycans (PubMed:7718872). Upon engagement of ligands such as C1q or syalylated glycoproteins, two immunoreceptor tyrosine-based inhibitory motifs (ITIMs) located in CD33 cytoplasmic tail are phosphorylated by Src-like kinases such as LCK (PubMed:28325905, PubMed:10887109). These phosphorylations provide docking sites for the recruitment and activation of protein-tyrosine phosphatases PTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:10556798, PubMed:10206955, PubMed:10887109). In turn, these phosphatases regulate downstream pathways through dephosphorylation of signaling molecules (PubMed:10206955, PubMed:10887109). One of the repressive effect of CD33 on monocyte activation requires phosphoinositide 3-kinase/PI3K (PubMed:15597323). Glycosylated. Glycosylation at Asn-100 is critical for regulating ligand recognition.;Phosphorylation of Tyr-340 is involved in binding to PTPN6 and PTPN11. Phosphorylation of Tyr-358 is involved in binding to PTPN6. LCK phosphorylates Tyr-340 efficiently and Tyr-358 to a lesser extent. Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. Hematopoietic cell lineage;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Neutrophil degranulation PE1 19 +NX_P20142 Gastricsin 388 42426 4.36 0 Nucleoplasm;Secreted NA Hydrolyzes a variety of proteins. NA Belongs to the peptidase A1 family. NA PE1 6 +NX_P20151 Kallikrein-2 261 28671 6.44 0 NA NA Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin. NA Belongs to the peptidase S1 family. Kallikrein subfamily. Endocrine and other factor-regulated calcium reabsorption;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Activation of Matrix Metalloproteinases PE1 19 +NX_P20155 Serine protease inhibitor Kazal-type 2 84 9291 9.3 0 Secreted;Acrosome Spermatogenic failure 29 As a strong inhibitor of acrosin, it is required for normal spermiogenesis. It probably hinders premature activation of proacrosin and other proteases, thus preventing the cascade of events leading to spermiogenesis defects (PubMed:28554943). May be involved in the regulation of serine protease-dependent germ cell apoptosis (By similarity). It also inhibits trypsin. NA NA NA PE1 4 +NX_P20160 Azurocidin 251 26886 9.75 0 Cytoplasmic vesicle;Cytoplasmic granule membrane NA This is a neutrophil granule-derived antibacterial and monocyte- and fibroblast-specific chemotactic glycoprotein. Binds heparin. The cytotoxic action is limited to many species of Gram-negative bacteria; this specificity may be explained by a strong affinity of the very basic N-terminal half for the negatively charged lipopolysaccharides that are unique to the Gram-negative bacterial outer envelope. It may play a role in mediating recruitment of monocytes in the second wave of inflammation. Has antibacterial activity against the Gram-negative bacterium P.aeruginosa, this activity is inhibited by LPS from P.aeruginosa. Acting alone, it does not have antimicrobial activity against the Gram-negative bacteria A.actinomycetemcomitans ATCC 29532, A.actinomycetemcomitans NCTC 9709, A.actinomycetemcomitans FDC-Y4, H.aphrophilus ATCC 13252, E.corrodens ATCC 23834, C.sputigena ATCC 33123, Capnocytophaga sp ATCC 33124, Capnocytophaga sp ATCC 27872 or E.coli ML-35. Has antibacterial activity against C.sputigena ATCC 33123 when acting synergistically with either elastase or cathepsin G. Cleavage of the N-terminal propeptide which is composed of 7 amino acids occurs in two steps. The initial cleavage of 5 amino acids is followed by the cleavage of a dipeptide to produce the mature form. Belongs to the peptidase S1 family. Elastase subfamily. Neutrophil degranulation PE1 19 +NX_P20226 TATA-box-binding protein 339 37698 9.8 0 Nucleoplasm;Nucleus Spinocerebellar ataxia 17 General transcription factor that functions at the core of the DNA-binding multiprotein factor TFIID (PubMed:2374612, PubMed:2363050, PubMed:2194289, PubMed:9836642, PubMed:27193682). Binding of TFIID to the TATA box is the initial transcriptional step of the pre-initiation complex (PIC), playing a role in the activation of eukaryotic genes transcribed by RNA polymerase II (PubMed:2374612, PubMed:2363050, PubMed:2194289, PubMed:9836642, PubMed:27193682). Component of a BRF2-containing transcription factor complex that regulates transcription mediated by RNA polymerase III (PubMed:26638071). Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase I-dependent transcription (PubMed:15970593). The rate of PIC formation probably is primarily dependent on the rate of association of SL1 with the rDNA promoter. SL1 is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. NA Belongs to the TBP family. Basal transcription factors;Huntington's disease;HTLV-I infection;Herpes simplex infection;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter;SIRT1 negatively regulates rRNA expression;B-WICH complex positively regulates rRNA expression;RNA polymerase II transcribes snRNA genes;Regulation of TP53 Activity through Phosphorylation;Estrogen-dependent gene expression PE1 6 +NX_P20231 Tryptase beta-2 275 30515 6.62 0 Secreted NA Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type. May play a role in innate immunity. NA Belongs to the peptidase S1 family. Tryptase subfamily. NA PE1 16 +NX_P20248 Cyclin-A2 432 48551 6.1 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Cyclin which controls both the G1/S and the G2/M transition phases of the cell cycle. Functions through the formation of specific serine/threonine protein kinase holoenzyme complexes with the cyclin-dependent protein kinases CDK1 or CDK2. The cyclin subunit confers the substrate specificity of these complexes and differentially interacts with and activates CDK1 and CDK2 throughout the cell cycle. Polyubiquitinated via 'Lys-11'-linked ubiquitin by the anaphase-promoting complex (APC/C), leading to its degradation by the proteasome. Deubiquitinated and stabilized by USP37 enables entry into S phase. Belongs to the cyclin family. Cyclin AB subfamily. Cell cycle;Progesterone-mediated oocyte maturation;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;SCF(Skp2)-mediated degradation of p27/p21;G0 and Early G1;Cyclin A/B1/B2 associated events during G2/M transition;Regulation of APC/C activators between G1/S and early anaphase;Cyclin A:Cdk2-associated events at S phase entry;Phosphorylation of proteins involved in the G2/M transition by Cyclin A:Cdc2 complexes;G2 Phase;p53-Dependent G1 DNA Damage Response;Processing of DNA double-strand break ends;Regulation of TP53 Activity through Phosphorylation;TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest;Regulation of TP53 Degradation;Ub-specific processing proteases;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1 PE1 4 +NX_P20264 POU domain, class 3, transcription factor 3 500 50327 7.51 0 Nucleoplasm;Nucleus NA Transcription factor that acts synergistically with SOX11 and SOX4. Plays a role in neuronal development. Is implicated in an enhancer activity at the embryonic met-mesencephalic junction; the enhancer element contains the octamer motif (5'-ATTTGCAT-3') (By similarity). NA Belongs to the POU transcription factor family. Class-3 subfamily. NA PE1 2 +NX_P20265 POU domain, class 3, transcription factor 2 443 46893 7.51 0 Nucleoplasm;Nucleus NA Transcription factor that plays a key role in neuronal differentiation (By similarity). Binds preferentially to the recognition sequence which consists of two distinct half-sites, ('GCAT') and ('TAAT'), separated by a non-conserved spacer region of 0, 2, or 3 nucleotides (By similarity). The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Acts downstream of ASCL1, accessing chromatin that has been opened by ASCL1, and promotes transcription of neuronal genes (By similarity). NA Belongs to the POU transcription factor family. Class-3 subfamily. NA PE1 6 +NX_P20273 B-cell receptor CD22 847 95348 6.21 1 Cell membrane NA Mediates B-cell B-cell interactions. May be involved in the localization of B-cells in lymphoid tissues. Binds sialylated glycoproteins; one of which is CD45. Preferentially binds to alpha-2,6-linked sialic acid. The sialic acid recognition site can be masked by cis interactions with sialic acids on the same cell surface. Upon ligand induced tyrosine phosphorylation in the immune response seems to be involved in regulation of B-cell antigen receptor signaling. Plays a role in positive regulation through interaction with Src family tyrosine kinases and may also act as an inhibitory receptor by recruiting cytoplasmic phosphatases via their SH2 domains that block signal transduction through dephosphorylation of signaling molecules. Phosphorylated on tyrosine residues by LYN.;Phosphorylation of Tyr-762, Tyr-807 and Tyr-822 are involved in binding to SYK, GRB2 and SYK, respectively. Phosphorylation of Tyr-842 is involved in binding to SYK, PLCG2 and PIK3R1/PIK3R2. Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. Cell adhesion molecules (CAMs);Hematopoietic cell lineage;B cell receptor signaling pathway;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;CD22 mediated BCR regulation PE1 19 +NX_P20290 Transcription factor BTF3 206 22168 9.41 0 Cytoplasm;Cytosol;Nucleus NA When associated with NACA, prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. BTF3 is also a general transcription factor that can form a stable complex with RNA polymerase II. Required for the initiation of transcription. NA Belongs to the NAC-beta family. NA PE1 5 +NX_P20292 Arachidonate 5-lipoxygenase-activating protein 161 18157 8.58 4 Endoplasmic reticulum membrane;Nucleus membrane Ischemic stroke Required for leukotriene biosynthesis by ALOX5 (5-lipoxygenase). Anchors ALOX5 to the membrane. Binds arachidonic acid, and could play an essential role in the transfer of arachidonic acid to ALOX5. Binds to MK-886, a compound that blocks the biosynthesis of leukotrienes. NA Belongs to the MAPEG family. Synthesis of Leukotrienes (LT) and Eoxins (EX);Synthesis of Lipoxins (LX);Synthesis of 5-eicosatetraenoic acids PE1 13 +NX_P20309 Muscarinic acetylcholine receptor M3 590 66128 9.33 7 Basolateral cell membrane;Cell membrane;Postsynaptic cell membrane Prune belly syndrome The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover. CHRM3 is phosphorylated by GRK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM3 sub-subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Cholinergic synapse;Regulation of actin cytoskeleton;Salivary secretion;Gastric acid secretion;Pancreatic secretion;G alpha (q) signalling events;Muscarinic acetylcholine receptors;Acetylcholine regulates insulin secretion PE1 1 +NX_P20333 Tumor necrosis factor receptor superfamily member 1B 461 48291 5.88 1 Secreted;Cell membrane NA Blocks TNF-alpha-induced apoptosis, which suggests that it regulates TNF-alpha function by antagonizing its biological activity.;Receptor with high affinity for TNFSF2/TNF-alpha and approximately 5-fold lower affinity for homotrimeric TNFSF1/lymphotoxin-alpha. The TRAF1/TRAF2 complex recruits the apoptotic suppressors BIRC2 and BIRC3 to TNFRSF1B/TNFR2. This receptor mediates most of the metabolic effects of TNF-alpha. Phosphorylated; mainly on serine residues and with a very low level on threonine residues.;A soluble form (tumor necrosis factor binding protein 2) is produced from the membrane form by proteolytic processing. NA Cytokine-cytokine receptor interaction;Adipocytokine signaling pathway;Amyotrophic lateral sclerosis (ALS);TNFR2 non-canonical NF-kB pathway;TNFs bind their physiological receptors;Neutrophil degranulation;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling PE1 1 +NX_P20336 Ras-related protein Rab-3A 220 24984 4.85 0 Cell membrane;Nucleoplasm;Centrosome;Lysosome;Cytosol;Secretory vesicle NA Small GTP-binding protein that plays a central role in regulated exocytosis and secretion. Controls the recruitment, tethering and docking of secretory vesicles to the plasma membrane (By similarity). Upon stimulation, switches to its active GTP-bound form, cycles to vesicles and recruits effectors such as RIMS1, RIMS2, Rabphilin-3A/RPH3A, RPH3AL or SYTL4 to help the docking of vesicules onto the plasma membrane (By similarity). Upon GTP hydrolysis by GTPase-activating protein, dissociates from the vesicle membrane allowing the exocytosis to proceed (By similarity). Stimulates insulin secretion through interaction with RIMS2 or RPH3AL effectors in pancreatic beta cells (By similarity). Regulates calcium-dependent lysosome exocytosis and plasma membrane repair (PMR) via the interaction with 2 effectors, SYTL4 and myosin-9/MYH9 (PubMed:27325790). Acts as a positive regulator of acrosome content secretion in sperm cells by interacting with RIMS1 (PubMed:22248876, PubMed:30599141). Plays also a role in the regulation of dopamine release by interacting with synaptotagmin I/SYT (By similarity). Phosphorylation of Thr-86 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitors GDI1 and GDI2. Belongs to the small GTPase superfamily. Rab family. Synaptic vesicle cycle;Acetylcholine Neurotransmitter Release Cycle;GABA synthesis, release, reuptake and degradation;Glutamate Neurotransmitter Release Cycle;Norepinephrine Neurotransmitter Release Cycle;Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle;Neutrophil degranulation;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 19 +NX_P20337 Ras-related protein Rab-3B 219 24758 4.85 0 Golgi apparatus;Cell junction;Cell membrane NA Protein transport. Probably involved in vesicular traffic (By similarity). Phosphorylation of Thr-86 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitor GDI2. Belongs to the small GTPase superfamily. Rab family. Tight junction;RAB geranylgeranylation PE1 1 +NX_P20338 Ras-related protein Rab-4A 218 24390 5.82 0 Membrane;Cytoplasm;Early endosome membrane;Recycling endosome membrane NA Protein transport. Plays a role in vesicular traffic. Mediates VEGFR2 endosomal trafficking to enhance VEGFR2 signaling. Phosphorylated by CDK1 kinase during mitosis. Belongs to the small GTPase superfamily. Rab family. Endocytosis;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Synthesis of PIPs at the plasma membrane;MET receptor recycling;TBC/RABGAPs;RAB geranylgeranylation PE1 1 +NX_P20339 Ras-related protein Rab-5A 215 23659 8.32 0 Endosome membrane;Cell membrane;Phagosome membrane;Membrane;Early endosome membrane;Melanosome;Ruffle;Cytoplasmic vesicle;Cytosol NA Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Active GTP-bound form is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB5A is required for the fusion of plasma membranes and early endosomes (PubMed:10818110, PubMed:14617813, PubMed:16410077, PubMed:15378032). Contributes to the regulation of filopodia extension (PubMed:14978216). Required for the exosomal release of SDCBP, CD63, PDCD6IP and syndecan (PubMed:22660413). Regulates maturation of apoptotic cell-containing phagosomes, probably downstream of DYN2 and PIK3C3 (By similarity). Phosphorylation of Ser-84 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including RAB GDP dissociation inhibitors GDI1 and GDI2. Belongs to the small GTPase superfamily. Rab family. Endocytosis;Phagosome;Vasopressin-regulated water reabsorption;Amyotrophic lateral sclerosis (ALS);Amoebiasis;Tuberculosis;Factors involved in megakaryocyte development and platelet production;Synthesis of PIPs at the plasma membrane;Clathrin-mediated endocytosis;RAB GEFs exchange GTP for GDP on RABs;TBC/RABGAPs;RAB geranylgeranylation PE1 3 +NX_P20340 Ras-related protein Rab-6A 208 23593 5.42 0 Golgi apparatus membrane NA Protein transport. Regulator of membrane traffic from the Golgi apparatus towards the endoplasmic reticulum (ER). Has a low GTPase activity. Involved in COPI-independent retrograde transport from the Golgi to the ER (PubMed:25962623). Prenylated. Belongs to the small GTPase superfamily. Rab family. Pre-NOTCH Processing in Golgi;COPI-independent Golgi-to-ER retrograde traffic;Retrograde transport at the Trans-Golgi-Network;Neutrophil degranulation;RAB GEFs exchange GTP for GDP on RABs;TBC/RABGAPs;RAB geranylgeranylation PE1 11 +NX_P20366 Protachykinin-1 129 15003 8.89 0 Secreted NA Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles. The substance P form is cleaved at Pro-59 by the prolyl endopeptidase FAP (seprase) activity (in vitro). Belongs to the tachykinin family. G alpha (q) signalling events;Tachykinin receptors bind tachykinins PE1 7 +NX_P20382 Pro-MCH 165 18679 6.74 0 Secreted NA MCH may act as a neurotransmitter or neuromodulator in a broad array of neuronal functions directed toward the regulation of goal-directed behavior, such as food intake, and general arousal. May also have a role in spermatocyte differentiation. Differentially processed in the brain and in peripheral organs producing two neuropeptides; NEI and MCH. A third peptide, NGE, may also be produced. Preferential processing in neurons by prohormone convertase 2 (PC2) generates NEI. MCH is generated in neurons of the lateral hypothalmic area by several prohormone convertases including PC1/3, PC2 and PC5/6. Belongs to the melanin-concentrating hormone family. G alpha (i) signalling events;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 12 +NX_P20393 Nuclear receptor subfamily 1 group D member 1 614 66805 8.83 0 Cytoplasm;Dendritic spine;Dendrite;Nucleus NA Transcriptional repressor which coordinates circadian rhythm and metabolic pathways in a heme-dependent manner. Integral component of the complex transcription machinery that governs circadian rhythmicity and forms a critical negative limb of the circadian clock by directly repressing the expression of core clock components ARTNL/BMAL1, CLOCK and CRY1. Also regulates genes involved in metabolic functions, including lipid and bile acid metabolism, adipogenesis, gluconeogenesis and the macrophage inflammatory response. Acts as a receptor for heme which stimulates its interaction with the NCOR1/HDAC3 corepressor complex, enhancing transcriptional repression. Recognizes two classes of DNA response elements within the promoter of its target genes and can bind to DNA as either monomers or homodimers, depending on the nature of the response element. Binds as a monomer to a response element composed of the consensus half-site motif 5'-[A/G]GGTCA-3' preceded by an A/T-rich 5' sequence (RevRE), or as a homodimer to a direct repeat of the core motif spaced by two nucleotides (RevDR-2). Acts as a potent competitive repressor of ROR alpha (RORA) function and regulates the levels of its ligand heme by repressing the expression of PPARGC1A, a potent inducer of heme synthesis. Regulates lipid metabolism by repressing the expression of APOC3 and by influencing the activity of sterol response element binding proteins (SREBPs); represses INSIG2 which interferes with the proteolytic activation of SREBPs which in turn govern the rhythmic expression of enzymes with key functions in sterol and fatty acid synthesis. Regulates gluconeogenesis via repression of G6PC and PEPCK and adipocyte differentiation via repression of PPARG. Regulates glucagon release in pancreatic alpha-cells via the AMPK-NAMPT-SIRT1 pathway and the proliferation, glucose-induced insulin secretion and expression of key lipogenic genes in pancreatic-beta cells. Positively regulates bile acid synthesis by increasing hepatic expression of CYP7A1 via repression of NR0B2 and NFIL3 which are negative regulators of CYP7A1. Modulates skeletal muscle oxidative capacity by regulating mitochondrial biogenesis and autophagy; controls mitochondrial biogenesis and respiration by interfering with the STK11-PRKAA1/2-SIRT1-PPARGC1A signaling pathway. Represses the expression of SERPINE1/PAI1, an important modulator of cardiovascular disease and the expression of inflammatory cytokines and chemokines in macrophages. Represses gene expression at a distance in macrophages by inhibiting the transcription of enhancer-derived RNAs (eRNAs). Plays a role in the circadian regulation of body temperature and negatively regulates thermogenic transcriptional programs in brown adipose tissue (BAT); imposes a circadian oscillation in BAT activity, increasing body temperature when awake and depressing thermogenesis during sleep. In concert with NR2E3, regulates transcriptional networks critical for photoreceptor development and function. In addition to its activity as a repressor, can also act as a transcriptional activator. In the ovarian granulosa cells acts as a transcriptional activator of STAR which plays a role in steroid biosynthesis. In collaboration with SP1, activates GJA1 transcription in a heme-independent manner. Represses the transcription of CYP2B10, CYP4A10 and CYP4A14 (By similarity). Represses the transcription of CES2 (By similarity). Represses and regulates the circadian expression of TSHB in a NCOR1-dependent manner (By similarity). Negatively regulates the protein stability of NR3C1 and influences the time-dependent subcellular distribution of NR3C1, thereby affecting its transcriptional regulatory activity (By similarity). Plays a critical role in the circadian control of neutrophilic inflammation in the lung; under resting, non-stress conditions, acts as a rhythmic repressor to limit inflammatory activity whereas in the presence of inflammatory triggers undergoes ubiquitin-mediated degradation thereby relieving inhibition of the inflammatory response (By similarity). Plays a key role in the circadian regulation of microglial activation and neuroinflammation; suppresses microglial activation through the NF-kappaB pathway in the central nervous system (By similarity). Plays a role in the regulation of the diurnal rhythms of lipid and protein metabolism in the skeletal muscle via transcriptional repression of genes controlling lipid and amino acid metabolism in the muscle (By similarity). Ubiquitinated, leading to its proteasomal degradation (PubMed:16484495, PubMed:23398316, PubMed:20534529). Ubiquitinated by SIAH2; leading to its proteasomal degradation (PubMed:26392558). Ubiquitinated by the SCF(FBXW7) complex when phosphorylated by CDK1 leading to its proteasomal degradation (By similarity). Rapidly ubiquitinated in response to inflammatory triggers and sumoylation is a prerequisite to its ubiquitination (By similarity).;Sumoylated by UBE2I, desumoylated by SENP1, and sumoylation is a prerequisite to its ubiquitination.;Undergoes lysosome-mediated degradation in a time-dependent manner in the liver.;Phosphorylated by CSNK1E; phosphorylation enhances its cytoplasmic localization. Belongs to the nuclear hormone receptor family. NR1 subfamily. Circadian rhythm - mammal;PPARA activates gene expression;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;Nuclear Receptor transcription pathway;NR1D1 (REV-ERBA) represses gene expression PE1 17 +NX_P20396 Pro-thyrotropin-releasing hormone 242 27404 5.34 0 Secreted NA As a component of the hypothalamic-pituitary-thyroid axis, it controls the secretion of thyroid-stimulating hormone (TSH) and is involved in thyroid hormone synthesis regulation. It also operates as modulator of hair growth. It promotes hair-shaft elongation, prolongs the hair cycle growth phase (anagen) and antagonizes its termination (catagen) by TGFB2. It stimulates proliferation and inhibits apoptosis of hair matrix keratinocytes. NA Belongs to the TRH family. Peptide ligand-binding receptors;G alpha (q) signalling events PE1 3 +NX_P20472 Parvalbumin alpha 110 12059 4.98 0 Nucleoplasm;Cell junction;Nucleolus NA In muscle, parvalbumin is thought to be involved in relaxation after contraction. It binds two calcium ions. NA Belongs to the parvalbumin family. Transcriptional Regulation by MECP2 PE1 22 +NX_P20585 DNA mismatch repair protein Msh3 1137 127412 8.2 0 Nucleus Endometrial cancer;Familial adenomatous polyposis 4 Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields approximately 20 base pairs. MutS beta recognizes large insertion-deletion loops (IDL) up to 13 nucleotides long. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. NA Belongs to the DNA mismatch repair MutS family. MSH3 subfamily. Mismatch repair;Pathways in cancer;Colorectal cancer;Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta);Defective Mismatch Repair Associated With MSH2;Defective Mismatch Repair Associated With MSH3 PE1 5 +NX_P20591 Interferon-induced GTP-binding protein Mx1 662 75520 5.6 0 Cytoplasm;Endoplasmic reticulum membrane;Nucleus membrane;Cytosol;Perinuclear region;Nucleus NA Interferon-induced dynamin-like GTPase with antiviral activity against a wide range of RNA viruses and some DNA viruses. Its target viruses include negative-stranded RNA viruses and HBV through binding and inactivation of their ribonucleocapsid. May also antagonize reoviridae and asfarviridae replication. Inhibits thogoto virus (THOV) replication by preventing the nuclear import of viral nucleocapsids. Inhibits La Crosse virus (LACV) replication by sequestering viral nucleoprotein in perinuclear complexes, preventing genome amplification, budding, and egress. Inhibits influenza A virus (IAV) replication by decreasing or delaying NP synthesis and by blocking endocytic traffic of incoming virus particles. Enhances ER stress-mediated cell death after influenza virus infection. May regulate the calcium channel activity of TRPCs. ISGylated. Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. Measles;Influenza A;ISG15 antiviral mechanism;Interferon alpha/beta signaling PE1 21 +NX_P20592 Interferon-induced GTP-binding protein Mx2 715 82089 8.91 0 Cytoplasm;Nucleus;Nuclear pore complex NA Interferon-induced dynamin-like GTPase with potent antiviral activity against human immunodeficiency virus type 1 (HIV-1). Acts by targeting the viral capsid and affects the nuclear uptake and/or stability of the HIV-1 replication complex and the subsequent chromosomal integration of the proviral DNA. Exhibits antiviral activity also against simian immunodeficiency virus (SIV-mnd). May play a role in regulating nucleocytoplasmic transport and cell-cycle progression. NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. ISG15 antiviral mechanism;Interferon alpha/beta signaling PE1 21 +NX_P20594 Atrial natriuretic peptide receptor 2 1047 117022 6.41 1 Cell membrane Short stature with non-specific skeletal abnormalities;Acromesomelic dysplasia, Maroteaux type;Epiphyseal chondrodysplasia, Miura type Receptor for the C-type natriuretic peptide NPPC/CNP hormone. Has guanylate cyclase activity upon binding of its ligand. May play a role in the regulation of skeletal growth. Glycosylated.;Phosphorylated (PubMed:26980729). Phosphorylation of the protein kinase-like domain is required for full activation by CNP (By similarity). Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Vascular smooth muscle contraction;Physiological factors PE1 9 +NX_P20618 Proteasome subunit beta type-1 241 26489 8.27 0 Cytoplasm;Nucleoplasm;Nucleus NA Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). NA Belongs to the peptidase T1B family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neutrophil degranulation;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 6 +NX_P20645 Cation-dependent mannose-6-phosphate receptor 277 30993 5.57 1 Lysosome membrane NA Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. NA NA Lysosome;Phagosome;Lysosome Vesicle Biogenesis;Retrograde transport at the Trans-Golgi-Network;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 12 +NX_P20648 Potassium-transporting ATPase alpha chain 1 1035 114119 5.58 10 Cell membrane NA Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for acid production in the stomach. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. Oxidative phosphorylation;Collecting duct acid secretion;Gastric acid secretion;Ion transport by P-type ATPases PE1 19 +NX_P20671 Histone H2A type 1-D 130 14107 10.9 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.;Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239).;Deiminated on Arg-4 in granulocytes upon calcium entry.;Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of 'Lys-27' of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and 'Lys-63'-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend 'Lys-63'-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). H2AK119Ub and ionizing radiation-induced 'Lys-63'-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events. Belongs to the histone H2A family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;RMTs methylate histone arginines;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;UCH proteinases;Ub-specific processing proteases;Metalloprotease DUBs;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 6 +NX_P20674 Cytochrome c oxidase subunit 5A, mitochondrial 150 16762 6.3 0 Mitochondrion inner membrane NA This is the heme A-containing chain of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. NA Belongs to the cytochrome c oxidase subunit 5A family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 15 +NX_P20700 Lamin-B1 586 66408 5.11 0 Nucleus inner membrane;Nucleus membrane;Nucleus Leukodystrophy, demyelinating, autosomal dominant, adult-onset Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. B-type lamins undergo a series of modifications, such as farnesylation and phosphorylation. Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations.;LMNB1 is phosphorylated by MAPK3;LMNB1 is phosphorylated by PRKCD (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the intermediate filament family. Formation of Senescence-Associated Heterochromatin Foci (SAHF);Meiotic synapsis;Initiation of Nuclear Envelope Reformation;Depolymerisation of the Nuclear Lamina;Breakdown of the nuclear lamina;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation;Nuclear Envelope Breakdown PE1 5 +NX_P20701 Integrin alpha-L 1170 128770 5.4 1 Cell membrane NA Integrin ITGAL/ITGB2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrin ITGAL/ITGB2 is a receptor for F11R (PubMed:11812992, PubMed:15528364). Integin ITGAL/ITGB2 is a receptor for the secreted form of ubiquitin-like protein ISG15; the interaction is mediated by ITGAL (PubMed:29100055). Involved in a variety of immune phenomena including leukocyte-endothelial cell interaction, cytotoxic T-cell mediated killing, and antibody dependent killing by granulocytes and monocytes. Contributes to natural killer cell cytotoxicity (PubMed:15356110). Involved in leukocyte adhesion and transmigration of leukocytes including T-cells and neutrophils (PubMed:11812992). Required for generation of common lymphoid progenitor cells in bone marrow, indicating a role in lymphopoiesis (By similarity). Integrin ITGAL/ITGB2 in association with ICAM3, contributes to apoptotic neutrophil phagocytosis by macrophages (PubMed:23775590). In resting T-cells, up to 40% of surface ITGAL is constitutively phosphorylated. Phosphorylation causes conformational changes needed for ligand binding and is necessary for activation by some physiological agents. Belongs to the integrin alpha chain family. Cell adhesion molecules (CAMs);Natural killer cell mediated cytotoxicity;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Malaria;Staphylococcus aureus infection;HTLV-I infection;Rheumatoid arthritis;Viral myocarditis;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Integrin cell surface interactions;Cell surface interactions at the vascular wall;Neutrophil degranulation;RUNX3 Regulates Immune Response and Cell Migration PE1 16 +NX_P20702 Integrin alpha-X 1163 127829 6.19 1 Membrane NA Integrin alpha-X/beta-2 is a receptor for fibrinogen. It recognizes the sequence G-P-R in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis. NA Belongs to the integrin alpha chain family. Regulation of actin cytoskeleton;Tuberculosis;Integrin cell surface interactions;Cell surface interactions at the vascular wall;ECM proteoglycans;Neutrophil degranulation;Interleukin-4 and Interleukin-13 signaling PE1 16 +NX_P20711 Aromatic-L-amino-acid decarboxylase 480 53926 6.77 0 Cytoskeleton Aromatic L-amino-acid decarboxylase deficiency Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. NA Belongs to the group II decarboxylase family. Catecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 2/2.;Histidine metabolism;Tyrosine metabolism;Phenylalanine metabolism;Tryptophan metabolism;Metabolic pathways;Serotonin and melatonin biosynthesis;Catecholamine biosynthesis PE1 7 +NX_P20718 Granzyme H 246 27315 9.83 0 Cytoplasmic granule NA Cytotoxic chymotrypsin-like serine protease with preference for bulky and aromatic residues at the P1 position and acidic residues at the P3' and P4' sites. Probably necessary for target cell lysis in cell-mediated immune responses. Participates in the antiviral response via direct cleavage of several proteins essential for viral replication. NA Belongs to the peptidase S1 family. Granzyme subfamily. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Metabolism of Angiotensinogen to Angiotensins PE1 14 +NX_P20719 Homeobox protein Hox-A5 270 29345 9.32 0 Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Also binds to its own promoter. Binds specifically to the motif 5'-CYYNATTA[TG]Y-3'. NA Belongs to the Antp homeobox family. NA PE1 7 +NX_P20742 Pregnancy zone protein 1482 163863 5.97 0 Secreted NA Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase. NA Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family. NA PE1 12 +NX_P20749 B-cell lymphoma 3 protein 454 47584 8.72 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Perinuclear region;Midbody NA Contributes to the regulation of transcriptional activation of NF-kappa-B target genes. In the cytoplasm, inhibits the nuclear translocation of the NF-kappa-B p50 subunit. In the nucleus, acts as transcriptional activator that promotes transcription of NF-kappa-B target genes. Contributes to the regulation of cell proliferation (By similarity). Polyubiquitinated. Ubiquitination via 'Lys-63'-linked ubiquitin chains is required for nuclear accumulation. Deubiquitinated by CYLD, which acts on 'Lys-63'-linked ubiquitin chains. Deubiquitination by CYLD prevents nuclear accumulation (By similarity).;Activated by phosphorylation. NA NA PE1 19 +NX_P20774 Mimecan 298 33922 5.46 0 Endoplasmic reticulum;Extracellular matrix NA Induces bone formation in conjunction with TGF-beta-1 or TGF-beta-2. N- and O-glycosylated. O-glycosylated with a core 1 or possibly core 8 glycan. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily. Keratan sulfate biosynthesis;Defective CHST6 causes MCDC1;Keratan sulfate degradation;Defective B4GALT1 causes B4GALT1-CDG (CDG-2d);Defective ST3GAL3 causes MCT12 and EIEE15 PE1 9 +NX_P20783 Neurotrophin-3 257 29355 9.46 0 Cytoplasmic vesicle;Secreted NA Seems to promote the survival of visceral and proprioceptive sensory neurons. NA Belongs to the NGF-beta family. MAPK signaling pathway;Neurotrophin signaling pathway;Activated NTRK3 signals through RAS;Activated NTRK3 signals through PI3K;Signaling by NTRK3 (TRKC);NTF3 activates NTRK2 (TRKB) signaling;NTF3 activates NTRK3 signaling;Activated NTRK3 signals through PLCG1 PE1 12 +NX_P20794 Serine/threonine-protein kinase MAK 623 70581 9.67 0 Photoreceptor inner segment;Photoreceptor outer segment;Centrosome;Nucleus;Spindle;Midbody Retinitis pigmentosa 62 Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors (By similarity). Phosphorylates FZR1 in a cell cycle-dependent manner. Plays a role in the transcriptional coactivation of AR. Could play an important function in spermatogenesis. May play a role in chromosomal stability in prostate cancer cells. Autophosphorylated. Phosphorylated on serine and threonine residues. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. NA PE1 6 +NX_P20800 Endothelin-2 178 19960 10.3 0 Cytosol;Secreted NA Endothelins are endothelium-derived vasoconstrictor peptides. NA Belongs to the endothelin/sarafotoxin family. Peptide ligand-binding receptors;G alpha (q) signalling events PE1 1 +NX_P20807 Calpain-3 821 94254 5.81 0 Cytoplasm Muscular dystrophy, limb-girdle, autosomal dominant 4;Muscular dystrophy, limb-girdle, autosomal recessive 1 Calcium-regulated non-lysosomal thiol-protease. NA Belongs to the peptidase C2 family. Degradation of the extracellular matrix PE1 15 +NX_P20809 Interleukin-11 199 21429 10.64 0 Secreted NA Cytokine that stimulates the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells and induces megakaryocyte maturation resulting in increased platelet production (PubMed:2145578). Also promotes the proliferation of hepatocytes in response to liver damage. Binding to its receptor formed by IL6ST and either IL11RA1 or IL11RA2 activates a signaling cascade that promotes cell proliferation (PubMed:12919066). Signaling leads to the activation of intracellular protein kinases and the phosphorylation of STAT3. NA Belongs to the IL-6 superfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Hematopoietic cell lineage;Rheumatoid arthritis;IL-6-type cytokine receptor ligand interactions PE1 19 +NX_P20810 Calpastatin 708 76573 4.98 0 Endoplasmic reticulum;Cytoplasm;Cytosol Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads Specific inhibition of calpain (calcium-dependent cysteine protease). Plays a key role in postmortem tenderization of meat and have been proposed to be involved in muscle protein degradation in living tissue. The N-terminus is blocked. Belongs to the protease inhibitor I27 (calpastatin) family. Degradation of the extracellular matrix;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models PE1 5 +NX_P20813 Cytochrome P450 2B6 491 56278 8.43 0 Microsome membrane;Endoplasmic reticulum membrane;Nucleus membrane;Nucleoplasm;Cytosol NA Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Acts as a 1,4-cineole 2-exo-monooxygenase. Phosphorylation is accompanied by a decrease in enzyme activity. Belongs to the cytochrome P450 family. Arachidonic acid metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;Xenobiotics;Fatty acids;CYP2E1 reactions PE1 19 +NX_P20815 Cytochrome P450 3A5 502 57109 8.86 0 Microsome membrane;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of steroid hormones and vitamins (PubMed:2732228, PubMed:10681376, PubMed:11093772, PubMed:12865317). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds (PubMed:12865317, PubMed:2732228, PubMed:10681376, PubMed:11093772). Exhibits high catalytic activity for the formation of catechol estrogens from 17beta-estradiol (E2) and estrone (E1), namely 2-hydroxy E1 and E2 (PubMed:12865317). Catalyzes 6beta-hydroxylation of the steroid hormones testosterone, progesterone, and androstenedione (PubMed:2732228). Catalyzes the oxidative conversion of all-trans-retinol to all-trans-retinal, a rate-limiting step for the biosynthesis of all-trans-retinoic acid (atRA) (PubMed:10681376). Further metabolizes all trans-retinoic acid (atRA) to 4-hydroxyretinoate and may play a role in hepatic atRA clearance (PubMed:11093772). Also involved in the oxidative metabolism of xenobiotics, including calcium channel blocking drug nifedipine and immunosuppressive drug cyclosporine (PubMed:2732228). NA Belongs to the cytochrome P450 family. Steroid hormone biosynthesis.;Cofactor metabolism; retinol metabolism.;Steroid hormone biosynthesis;Linoleic acid metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Xenobiotics;Aflatoxin activation and detoxification PE1 7 +NX_P20823 Hepatocyte nuclear factor 1-alpha 631 67356 5.82 0 Nucleoplasm;Nucleus Diabetes mellitus, insulin-dependent, 20;Maturity-onset diabetes of the young 3;Hepatic adenomas familial Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver (By similarity). Binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:12453420, PubMed:10966642). Activates the transcription of CYP1A2, CYP2E1 and CYP3A11 (By similarity). NA Belongs to the HNF1 homeobox family. Maturity onset diabetes of the young;Regulation of gene expression in beta cells PE1 12 +NX_P20827 Ephrin-A1 205 23787 6.34 0 Secreted;Cell membrane NA Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. Plays an important role in angiogenesis and tumor neovascularization. The recruitment of VAV2, VAV3 and PI3-kinase p85 subunit by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly. Exerts anti-oncogenic effects in tumor cells through activation and down-regulation of EPHA2. Activates EPHA2 by inducing tyrosine phosphorylation which leads to its internalization and degradation. Acts as a negative regulator in the tumorigenesis of gliomas by down-regulating EPHA2 and FAK. Can evoke collapse of embryonic neuronal growth cone and regulates dendritic spine morphogenesis. N-Glycosylation is required for binding to EPHA2 receptor and inducing its internalization.;Undergoes proteolysis by a metalloprotease to give rise to a soluble monomeric form. Belongs to the ephrin family. Axon guidance;EPH-Ephrin signaling;EPH-ephrin mediated repulsion of cells;EPHA-mediated growth cone collapse PE1 1 +NX_P20839 Inosine-5'-monophosphate dehydrogenase 1 514 55406 6.43 0 Cytoplasm;Nucleus Leber congenital amaurosis 11;Retinitis pigmentosa 10 Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors. NA Belongs to the IMPDH/GMPR family. Purine metabolism; XMP biosynthesis via de novo pathway; XMP from IMP: step 1/1.;Purine metabolism;Drug metabolism - other enzymes;Metabolic pathways;Purine ribonucleoside monophosphate biosynthesis;Neutrophil degranulation PE1 7 +NX_P20848 Putative alpha-1-antitrypsin-related protein 420 47891 7.73 0 Endoplasmic reticulum NA Putative serine protease inhibitor. Glycosylated. Belongs to the serpin family. NA PE1 14 +NX_P20849 Collagen alpha-1(IX) chain 921 91869 8.94 0 Extracellular matrix Stickler syndrome 4;Multiple epiphyseal dysplasia 6 Structural component of hyaline cartilage and vitreous of the eye. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.;Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links. Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. Protein digestion and absorption;Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Collagen chain trimerization PE1 6 +NX_P20851 C4b-binding protein beta chain 252 28357 5.05 0 Secreted NA Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. It also interacts with anticoagulant protein S and with serum amyloid P component. The beta chain binds protein S. NA NA Complement and coagulation cascades;Pertussis;Regulation of Complement cascade PE1 1 +NX_P20853 Cytochrome P450 2A7 494 56425 7.69 0 Microsome membrane;Endoplasmic reticulum membrane NA Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. NA Belongs to the cytochrome P450 family. Caffeine metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Xenobiotics;Fatty acids;CYP2E1 reactions PE1 19 +NX_P20908 Collagen alpha-1(V) chain 1838 183560 4.94 0 Cytoplasmic vesicle;Extracellular matrix Ehlers-Danlos syndrome, classic type, 1 Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.;Sulfated on 40% of tyrosines. Belongs to the fibrillar collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Amoebiasis;Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Syndecan interactions;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Non-integrin membrane-ECM interactions;Extracellular matrix organization;MET activates PTK2 signaling;Collagen chain trimerization PE1 9 +NX_P20916 Myelin-associated glycoprotein 626 69069 4.97 1 Membrane raft;Cell membrane Spastic paraplegia 75, autosomal recessive Adhesion molecule that mediates interactions between myelinating cells and neurons by binding to neuronal sialic acid-containing gangliosides and to the glycoproteins RTN4R and RTN4RL2 (By similarity). Not required for initial myelination, but seems to play a role in the maintenance of normal axon myelination. Protects motoneurons against apoptosis, also after injury; protection against apoptosis is probably mediated via interaction with neuronal RTN4R and RTN4RL2. Required to prevent degeneration of myelinated axons in adults; this probably depends on binding to gangliosides on the axon cell membrane (By similarity). Negative regulator of neurite outgrowth; in dorsal root ganglion neurons the inhibition is mediated primarily via binding to neuronal RTN4R or RTN4RL2 and to a lesser degree via binding to neuronal gangliosides. In cerebellar granule cells the inhibition is mediated primarily via binding to neuronal gangliosides. In sensory neurons, inhibition of neurite extension depends only partially on RTN4R, RTN4RL2 and gangliosides. Inhibits axon longitudinal growth (By similarity). Inhibits axon outgrowth by binding to RTN4R (By similarity). Preferentially binds to alpha-2,3-linked sialic acid. Binds ganglioside Gt1b (By similarity). N-glycosylated.;Phosphorylated on tyrosine residues.;Ubiquitinated, leading to proteasomal degradation. Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. Cell adhesion molecules (CAMs);Axonal growth inhibition (RHOA activation);Basigin interactions PE1 19 +NX_P20929 Nebulin 6669 772914 9.11 0 Cytoskeleton;Sarcomere Nemaline myopathy 2 This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin. NA NA Striated Muscle Contraction PE1 2 +NX_P20930 Filaggrin 4061 435170 9.24 0 Cytosol;Cytoplasmic granule Ichthyosis vulgaris;Dermatitis atopic 2 Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis. Undergoes deimination of some arginine residues (citrullination).;Filaggrin is initially synthesized as a large, insoluble, highly phosphorylated precursor containing many tandem copies of 324 AA, which are not separated by large linker sequences. During terminal differentiation it is dephosphorylated and proteolytically cleaved. The N-terminal of the mature protein is heterogeneous, and is blocked by the formation of pyroglutamate. Belongs to the S100-fused protein family. Formation of the cornified envelope PE1 1 +NX_P20933 N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase 346 37208 5.86 0 Lysosome Aspartylglucosaminuria Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins. Cleaved into an alpha and beta chain by autocatalysis; this activates the enzyme. The N-terminal residue of the beta subunit is responsible for the nucleophile hydrolase activity.;N-glycosylated. Belongs to the Ntn-hydrolase family. Other glycan degradation;Lysosome;Neutrophil degranulation PE1 4 +NX_P20936 Ras GTPase-activating protein 1 1047 116403 6.11 0 Cytoplasm Capillary malformation-arteriovenous malformation 1 Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21; this stimulation may be further increased in the presence of NCK1. Phosphorylated by SRC and LCK. The phosphorylation SRC inhibits its ability to stimulate the Ras-GTPase activity, whereas phosphorylation by LCK does not display any effect on stimulation activity.;The N-terminus is blocked.;RASA1 is phosphorylated by INSRR (Phosphotyrosine:PTM-0255);RASA1 is phosphorylated by SRC NA MAPK signaling pathway;Axon guidance;Regulation of RAS by GAPs;EPHB-mediated forward signaling;VEGFR2 mediated cell proliferation;Downstream signal transduction;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases;Signaling by RAS mutants PE1 5 +NX_P20941 Phosducin 246 28246 5.08 0 Photoreceptor inner segment;Photoreceptor outer segment;Cytosol;Nucleus NA May participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. Inhibits the transcriptional activation activity of the cone-rod homeobox CRX. Light-induced changes in cyclic nucleotide levels modulate the phosphorylation of this protein by cAMP kinase. Belongs to the phosducin family. Olfactory transduction PE1 1 +NX_P20962 Parathymosin 102 11530 4.14 0 Nucleoplasm;Nucleolus;Nucleus NA Parathymosin may mediate immune function by blocking the effect of prothymosin alpha which confers resistance to certain opportunistic infections. NA Belongs to the pro/parathymosin family. NA PE1 12 +NX_P20963 T-cell surface glycoprotein CD3 zeta chain 164 18696 9.28 1 Membrane Immunodeficiency 25 Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098, PubMed:7509083). CD3Z ITAMs phosphorylation creates multiple docking sites for the protein kinase ZAP70 leading to ZAP70 phosphorylation and its conversion into a catalytically active enzyme (PubMed:7509083). Plays an important role in intrathymic T-cell differentiation. Additionally, participates in the activity-dependent synapse formation of retinal ganglion cells (RGCs) in both the retina and dorsal lateral geniculate nucleus (dLGN) (By similarity). Phosphorylated on Tyr residues after T-cell receptor triggering by LCK in association with CD4/CD8.;CD247 is phosphorylated by LCK Belongs to the CD3Z/FCER1G family. Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;Chagas disease (American trypanosomiasis);Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling;Role of phospholipids in phagocytosis;FCGR activation;Nef and signal transduction PE1 1 +NX_P21108 Ribose-phosphate pyrophosphokinase 3 318 34839 5.92 0 NA NA Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis. NA Belongs to the ribose-phosphate pyrophosphokinase family. Metabolic intermediate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate from D-ribose 5-phosphate (route I): step 1/1.;Pentose phosphate pathway;Purine metabolism;Metabolic pathways;5-Phosphoribose 1-diphosphate biosynthesis PE1 7 +NX_P21127 Cyclin-dependent kinase 11B 795 92620 5.42 0 Cytoplasm;Nucleus NA Plays multiple roles in cell cycle progression, cytokinesis and apoptosis. Involved in pre-mRNA splicing in a kinase activity-dependent manner.;May act as a negative regulator of normal cell cycle progression. During FAS- or TNF-induced apoptosis, isoform SV9 is cleaved by caspases to produce p110C, a fragment that contains the C-terminal kinase domain.;Phosphorylation at Ser-115 creates a binding site for 14-3-3 proteins. P110C can be autophosphorylated.;CDK11B is phosphorylated by CDK7 Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. Recruitment of mitotic centrosome proteins and complexes PE1 1 +NX_P21128 Poly(U)-specific endoribonuclease 410 46872 5.26 0 Secreted NA Endoribonuclease that cleaves single-stranded RNAs at uridylates and releases products that have 2'-3'-cyclic phosphate termini. It has been suggested that the active SMB domain may be permitted considerable disulfide bond heterogeneity or variability, thus two alternate disulfide patterns based on 3D structures are described with 1 disulfide bond conserved in both. Belongs to the ENDOU family. NA PE1 12 +NX_P21145 Myelin and lymphocyte protein 153 16714 5.55 4 Membrane;Golgi apparatus;Centrosome NA Could be an important component in vesicular trafficking cycling between the Golgi complex and the apical plasma membrane. Could be involved in myelin biogenesis and/or myelin function. Lipoprotein. Belongs to the MAL family. NA PE1 2 +NX_P21217 Galactoside 3(4)-L-fucosyltransferase 361 42117 9.16 1 Golgi stack membrane NA May catalyze alpha-1,3 and alpha-1,4 glycosidic linkages involved in the expression of Vim-2, Lewis A, Lewis B, sialyl Lewis X and Lewis X/SSEA-1 antigens. May be involved in blood group Lewis determination; Lewis-positive (Le(+)) individuals have an active enzyme while Lewis-negative (Le(-)) individuals have an inactive enzyme. Also acts on the corresponding 1,4-galactosyl derivative, forming 1,3-L-fucosyl links. NA Belongs to the glycosyltransferase 10 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;Reactions specific to the complex N-glycan synthesis pathway;Lewis blood group biosynthesis PE1 19 +NX_P21246 Pleiotrophin 168 18942 9.66 0 Endoplasmic reticulum;Golgi apparatus;Secreted NA Secreted growth factor that mediates its signal through cell-surface proteoglycan and non-proteoglycan receptors (PubMed:16814777, PubMed:11278720, PubMed:19141530). Binds cell-surface proteoglycan receptor via their chondroitin sulfate (CS) groups (PubMed:26896299, PubMed:27445335). Thereby regulates many processes like cell proliferation, cell survival, cell growth, cell differentiation and cell migration in several tissues namely neuron and bone (PubMed:1733956, PubMed:1768439, PubMed:11278720, PubMed:19141530, PubMed:27445335, PubMed:30667096, PubMed:19442624). Also plays a role in synaptic plasticity and learning-related behavior by inhibiting long-term synaptic potentiation (By similarity). Binds PTPRZ1, leading to neutralization of the negative charges of the CS chains of PTPRZ1, inducing PTPRZ1 clustering, thereby causing the dimerization and inactivation of its phosphatase activity leading to increased tyrosine phosphorylation of each of the PTPRZ1 substrates like ALK, CTNNB1 or AFAP1L2 in order to activate the PI3K-AKT pathway (PubMed:17681947, PubMed:27445335, PubMed:30667096, PubMed:16814777, PubMed:10706604). Through PTPRZ1 binding controls oligodendrocyte precursor cell differentiation by enhancing the phosphorylation of AFAP1L2 in order to activate the PI3K-AKT pathway (PubMed:27445335, PubMed:30667096). Forms a complex with PTPRZ1 and integrin alpha-V/beta-3 (ITGAV:ITGB3) that stimulates endothelial cell migration through SRC dephosphorylation and activation that consequently leads to ITGB3 'Tyr-773' phosphorylation (PubMed:19141530). In adult hippocampus promotes dendritic arborization, spine development, and functional integration and connectivity of newborn granule neurons through ALK by activating AKT signaling pathway (By similarity). Binds GPC2 and chondroitin sulfate proteoglycans (CSPGs) at the neuron surface, leading to abrogation of binding between PTPRS and CSPGs and neurite outgrowth promotion (By similarity). Binds SDC3 and mediates bone formation by recruiting and attaching osteoblasts/osteoblast precursors to the sites for new bone deposition (By similarity). Binds ALK and promotes cell survival and cell proliferation through MAPK pathway activation (PubMed:11278720). Inhibits proliferation and enhances differentiation of neural stem cells by inhibiting FGF2-induced fibroblast growth factor receptor signaling pathway (By similarity). Mediates regulatory mechanisms in normal hemostasis and in hematopoietic regeneration and in maintaining the balance of myeloid and lymphoid regeneration (By similarity). In addition may play a role in the female reproductive system, auditory response and the progesterone-induced decidualization pathway (By similarity). Phosphorylated by NEK6.;PTN is phosphorylated by NEK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the pleiotrophin family. NA PE1 7 +NX_P21266 Glutathione S-transferase Mu 3 225 26560 5.37 0 Cytoplasm NA Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. May govern uptake and detoxification of both endogenous compounds and xenobiotics at the testis and brain blood barriers. The N-terminus is blocked. Belongs to the GST superfamily. Mu family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Glutathione conjugation PE1 1 +NX_P21281 V-type proton ATPase subunit B, brain isoform 511 56501 5.57 0 Cytoplasmic vesicle;Endomembrane system;Melanosome Deafness, congenital, with onychodystrophy, autosomal dominant;Zimmermann-Laband syndrome 2 Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. NA Belongs to the ATPase alpha/beta chains family. Oxidative phosphorylation;Metabolic pathways;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE1 8 +NX_P21283 V-type proton ATPase subunit C 1 382 43942 7.02 0 Nucleoplasm;Cytosol NA Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. NA Belongs to the V-ATPase C subunit family. Oxidative phosphorylation;Metabolic pathways;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE1 8 +NX_P21291 Cysteine and glycine-rich protein 1 193 20567 8.9 0 Nucleus NA Could play a role in neuronal development. NA NA MTF1 activates gene expression PE1 1 +NX_P21333 Filamin-A 2647 280739 5.7 0 Cytosol;Cell cortex;Cell membrane;Cytoskeleton Cardiac valvular dysplasia X-linked;Otopalatodigital syndrome 1;Otopalatodigital syndrome 2;Melnick-Needles syndrome;FG syndrome 2;Terminal osseous dysplasia;Periventricular nodular heterotopia 1;Congenital short bowel syndrome, X-linked;Frontometaphyseal dysplasia 1;Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Tethers cell surface-localized furin, modulates its rate of internalization and directs its intracellular trafficking (By similarity). Involved in ciliogenesis. Plays a role in cell-cell contacts and adherens junctions during the development of blood vessels, heart and brain organs. Plays a role in platelets morphology through interaction with SYK that regulates ITAM- and ITAM-like-containing receptor signaling, resulting in by platelet cytoskeleton organization maintenance (By similarity). Phosphorylation extent changes in response to cell activation.;Phosphorylation at Ser-2152 is negatively regulated by the autoinhibited conformation of filamin repeats 19-21. Ligand binding induces a conformational switch triggering phosphorylation at Ser-2152 by PKA.;Polyubiquitination in the CH1 domain by a SCF-like complex containing ASB2 leads to proteasomal degradation. Prior dissociation from actin may be required to expose the target lysines (PubMed:24052262). Ubiquitinated in endothelial cells by RNF213 downstream of the non-canonical Wnt signaling pathway, leading to its degradation by the proteasome (PubMed:26766444). Belongs to the filamin family. MAPK signaling pathway;Focal adhesion;Salmonella infection;Platelet degranulation;RHO GTPases activate PAKs;GP1b-IX-V activation signalling;Cell-extracellular matrix interactions;OAS antiviral response PE1 X +NX_P21359 Neurofibromin 2839 319372 7.1 0 Nucleus;Mitochondrion;Nucleolus Neurofibromatosis 1;Familial spinal neurofibromatosis;Leukemia, juvenile myelomonocytic;Colorectal cancer;Neurofibromatosis-Noonan syndrome;Watson syndrome Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. NA NA MAPK signaling pathway;Regulation of RAS by GAPs;Signaling by RAS mutants;RAS signaling downstream of NF1 loss-of-function variants PE1 17 +NX_P21397 Amine oxidase [flavin-containing] A 527 59682 7.94 1 Mitochondrion outer membrane;Cytosol;Mitochondrion Brunner syndrome Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOA preferentially oxidizes biogenic amines such as 5-hydroxytryptamine (5-HT), norepinephrine and epinephrine. NA Belongs to the flavin monoamine oxidase family. Glycine, serine and threonine metabolism;Arginine and proline metabolism;Histidine metabolism;Tyrosine metabolism;Phenylalanine metabolism;Tryptophan metabolism;Drug metabolism - cytochrome P450;Metabolic pathways;Dopaminergic synapse;Norepinephrine Neurotransmitter Release Cycle;Enzymatic degradation of dopamine by COMT;Enzymatic degradation of Dopamine by monoamine oxidase;Biogenic amines are oxidatively deaminated to aldehydes by MAOA and MAOB;Metabolism of serotonin;Defective MAOA causes Brunner syndrome (BRUNS);Interleukin-4 and Interleukin-13 signaling PE1 X +NX_P21399 Cytoplasmic aconitate hydratase 889 98399 6.23 0 Cytoplasm;Cytosol;Mitochondrion NA Catalyzes the isomerization of citrate to isocitrate via cis-aconitate.;Iron sensor. Binds a 4Fe-4S cluster and functions as aconitase when cellular iron levels are high. Functions as mRNA binding protein that regulates uptake, sequestration and utilization of iron when cellular iron levels are low. Binds to iron-responsive elements (IRES) in target mRNA species when iron levels are low. Binding of a 4Fe-4S cluster precludes RNA binding. NA Belongs to the aconitase/IPM isomerase family. Citrate cycle (TCA cycle);Glyoxylate and dicarboxylate metabolism;Metabolic pathways;Iron uptake and transport PE1 9 +NX_P21439 Phosphatidylcholine translocator ABCB4 1286 141523 8.65 12 Clathrin-coated vesicle;Cytoplasm;Cell membrane;Focal adhesion;Nucleoplasm;Apical cell membrane;Membrane raft;Cytoskeleton Cholestasis, progressive familial intrahepatic, 3;Cholestasis of pregnancy, intrahepatic 3;Gallbladder disease 1 Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the detergent activity of bile salts (PubMed:7957936, PubMed:8898203, PubMed:9366571, PubMed:17523162, PubMed:23468132, PubMed:24806754, PubMed:24723470, PubMed:24594635, PubMed:21820390). Plays a role in the recruitment of phosphatidylcholine (PC), phosphatidylethanolamine (PE) and sphingomyelin (SM) molecules to nonraft membranes and to further enrichment of SM and cholesterol in raft membranes in hepatocytes (PubMed:23468132). Required for proper phospholipid bile formation (By similarity). Indirectly involved in cholesterol efflux activity from hepatocytes into the canalicular lumen in the presence of bile salts in an ATP-dependent manner (PubMed:24045840). Promotes biliary phospholipid secretion as canaliculi-containing vesicles from the canalicular plasma membrane (PubMed:9366571, PubMed:28012258). In cooperation with ATP8B1, functions to protect hepatocytes from the deleterious detergent activity of bile salts (PubMed:21820390). Does not confer multidrug resistance (By similarity). Glycosylated (PubMed:17523162, PubMed:24723470, PubMed:21820390).;Phosphorylated (PubMed:24723470). Phosphorylation on Thr-34 is required for PC efflux activity. Phosphorylation occurs on serine and threonine residues in a protein kinase A- or C-dependent manner (PubMed:24723470). May be phosphorylated on Thr-44 and Ser-49 (PubMed:24723470). Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. ABC transporters;Bile secretion;PPARA activates gene expression;ABC-family proteins mediated transport;Defective ABCB4 causes progressive familial intrahepatic cholestasis 3, intrahepatic cholestasis of pregnancy 3 and gallbladder disease 1 PE1 7 +NX_P21452 Substance-K receptor 398 44442 8.86 7 Cell membrane NA This is a receptor for the tachykinin neuropeptide substance K (neurokinin A). It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: substance K > neuromedin-K > substance P. NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;G alpha (q) signalling events;Tachykinin receptors bind tachykinins PE1 10 +NX_P21453 Sphingosine 1-phosphate receptor 1 382 42811 9.59 7 Cytoplasmic vesicle;Endosome;Membrane raft;Cell membrane NA G-protein coupled receptor for the bioactive lysosphingolipid sphingosine 1-phosphate (S1P) that seems to be coupled to the G(i) subclass of heteromeric G proteins. Signaling leads to the activation of RAC1, SRC, PTK2/FAK1 and MAP kinases. Plays an important role in cell migration, probably via its role in the reorganization of the actin cytoskeleton and the formation of lamellipodia in response to stimuli that increase the activity of the sphingosine kinase SPHK1. Required for normal chemotaxis toward sphingosine 1-phosphate. Required for normal embryonic heart development and normal cardiac morphogenesis. Plays an important role in the regulation of sprouting angiogenesis and vascular maturation. Inhibits sprouting angiogenesis to prevent excessive sprouting during blood vessel development. Required for normal egress of mature T-cells from the thymus into the blood stream and into peripheral lymphoid organs. Plays a role in the migration of osteoclast precursor cells, the regulation of bone mineralization and bone homeostasis (By similarity). Plays a role in responses to oxidized 1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphocholine by pulmonary endothelial cells and in the protection against ventilator-induced lung injury. S1P-induced endothelial cell migration requires the PKB/AKT1-mediated phosphorylation of the third intracellular loop at the Thr-236 residue. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Lysosphingolipid and LPA receptors;Interleukin-4 and Interleukin-13 signaling PE1 1 +NX_P21462 fMet-Leu-Phe receptor 350 38446 9.23 7 Golgi apparatus;Nucleoplasm;Nucleolus;Cell membrane NA High affinity receptor for N-formyl-methionyl peptides (fMLP), which are powerful neutrophil chemotactic factors (PubMed:2161213, PubMed:2176894, PubMed:10514456, PubMed:15153520). Binding of fMLP to the receptor stimulates intracellular calcium mobilization and superoxide anion release (PubMed:2161213, PubMed:1712023, PubMed:15153520). This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system (PubMed:1712023, PubMed:10514456). Receptor for TAFA4, mediates its effects on chemoattracting macrophages, promoting phagocytosis and increasing ROS release (PubMed:25109685). Phosphorylated; which is necessary for desensitization. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Staphylococcus aureus infection;G alpha (i) signalling events;Formyl peptide receptors bind formyl peptides and many other ligands;Neutrophil degranulation;Interleukin-10 signaling PE1 19 +NX_P21506 Zinc finger protein 10 573 66455 8.68 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 12 +NX_P21549 Serine--pyruvate aminotransferase 392 43010 8.61 0 Cytoplasmic vesicle;Peroxisome;Mitochondrion Hyperoxaluria primary 1 NA NA Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. Alanine, aspartate and glutamate metabolism;Glycine, serine and threonine metabolism;Metabolic pathways;Peroxisome;Glyoxylate metabolism and glycine degradation;Peroxisomal protein import PE1 2 +NX_P21554 Cannabinoid receptor 1 472 52858 8.47 7 Mitochondrion outer membrane;Cell membrane;Presynapse;Axon;Membrane raft;Cytoskeleton Obesity Binds both 2-AG and anandamide.;Only binds 2-AG with high affinity. Contrary to its effect on isoform 1, 2-AG behaves as an inverse agonist on isoform 3 in assays measuring GTP binding to membranes.;G-protein coupled receptor for endogenous cannabinoids (eCBs), including N-arachidonoylethanolamide (also called anandamide or AEA) and 2-arachidonoylglycerol (2-AG), as well as phytocannabinoids, such as delta(9)-tetrahydrocannabinol (THC) (PubMed:15620723, PubMed:27768894, PubMed:27851727). Mediates many cannabinoid-induced effects, acting, among others, on food intake, memory loss, gastrointestinal motility, catalepsy, ambulatory activity, anxiety, chronic pain. Signaling typically involves reduction in cyclic AMP (PubMed:1718258, PubMed:21895628, PubMed:27768894). In the hypothalamus, may have a dual effect on mitochondrial respiration depending upon the agonist dose and possibly upon the cell type. Increases respiration at low doses, while decreases respiration at high doses. At high doses, CNR1 signal transduction involves G-protein alpha-i protein activation and subsequent inhibition of mitochondrial soluble adenylate cyclase, decrease in cyclic AMP concentration, inhibition of protein kinase A (PKA)-dependent phosphorylation of specific subunits of the mitochondrial electron transport system, including NDUFS2. In the hypothalamus, inhibits leptin-induced reactive oxygen species (ROS) formation and mediates cannabinoid-induced increase in SREBF1 and FASN gene expression. In response to cannabinoids, drives the release of orexigenic beta-endorphin, but not that of melanocyte-stimulating hormone alpha/alpha-MSH, from hypothalamic POMC neurons, hence promoting food intake. In the hippocampus, regulates cellular respiration and energy production in response to cannabinoids. Involved in cannabinoid-dependent depolarization-induced suppression of inhibition (DSI), a process in which depolarization of CA1 postsynaptic pyramidal neurons mobilizes eCBs, which retrogradely activate presynaptic CB1 receptors, transiently decreasing GABAergic inhibitory neurotransmission. Also reduces excitatory synaptic transmission (By similarity). In superior cervical ganglions and cerebral vascular smooth muscle cells, inhibits voltage-gated Ca(2+) channels in a constitutive, as well as agonist-dependent manner (PubMed:17895407). In cerebral vascular smooth muscle cells, cannabinoid-induced inhibition of voltage-gated Ca(2+) channels leads to vasodilation and decreased vascular tone (By similarity). Induces leptin production in adipocytes and reduces LRP2-mediated leptin clearance in the kidney, hence participating in hyperleptinemia. In adipose tissue, CNR1 signaling leads to increased expression of SREBF1, ACACA and FASN genes (By similarity). In the liver, activation by endocannabinoids leads to increased de novo lipogenesis and reduced fatty acid catabolism, associated with increased expression of SREBF1/SREBP-1, GCK, ACACA, ACACB and FASN genes. May also affect de novo cholesterol synthesis and HDL-cholesteryl ether uptake. Peripherally modulates energy metabolism (By similarity). In high carbohydrate diet-induced obesity, may decrease the expression of mitochondrial dihydrolipoyl dehydrogenase/DLD in striated muscles, as well as that of selected glucose/ pyruvate metabolic enzymes, hence affecting energy expenditure through mitochondrial metabolism (By similarity). In response to cannabinoid anandamide, elicits a proinflammatory response in macrophages, which involves NLRP3 inflammasome activation and IL1B and IL18 secretion (By similarity). In macrophages infiltrating pancreatic islets, this process may participate in the progression of type-2 diabetes and associated loss of pancreatic beta-cells (PubMed:23955712).;Only binds 2-AG with high affinity. Contrary to its effect on isoform 1, 2-AG behaves as an inverse agonist on isoform 2 in assays measuring GTP binding to membranes. Palmitoylation at Cys-415 is important for recruitment at plasma membrane and lipid rafts and association with G protein alpha subunits. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Class A/1 (Rhodopsin-like receptors) PE1 6 +NX_P21579 Synaptotagmin-1 422 47573 8.26 1 Cytoplasm;Synaptic vesicle membrane;Secretory vesicle membrane;Chromaffin granule membrane Baker-Gordon syndrome Calcium sensor that participates in triggering neurotransmitter release at the synapse (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similarity). It binds acidic phospholipids with a specificity that requires the presence of both an acidic head group and a diacyl backbone. A Ca(2+)-dependent interaction between synaptotagmin and putative receptors for activated protein kinase C has also been reported. It can bind to at least three additional proteins in a Ca(2+)-independent manner; these are neurexins, syntaxin and AP2. Plays a role in dendrite formation by melanocytes (PubMed:23999003). Glycosylated. Belongs to the synaptotagmin family. Synaptic vesicle cycle;Acetylcholine Neurotransmitter Release Cycle;GABA synthesis, release, reuptake and degradation;Glutamate Neurotransmitter Release Cycle;Norepinephrine Neurotransmitter Release Cycle;Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle;Toxicity of botulinum toxin type G (BoNT/G);Toxicity of botulinum toxin type B (BoNT/B);Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Neurexins and neuroligins PE1 12 +NX_P21580 Tumor necrosis factor alpha-induced protein 3 790 89614 8.61 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Lysosome Autoinflammatory syndrome, familial, Behcet-like Ubiquitin-editing enzyme that contains both ubiquitin ligase and deubiquitinase activities. Involved in immune and inflammatory responses signaled by cytokines, such as TNF-alpha and IL-1 beta, or pathogens via Toll-like receptors (TLRs) through terminating NF-kappa-B activity. Essential component of a ubiquitin-editing protein complex, comprising also RNF11, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signaling pathways. In cooperation with TAX1BP1 promotes disassembly of E2-E3 ubiquitin protein ligase complexes in IL-1R and TNFR-1 pathways; affected are at least E3 ligases TRAF6, TRAF2 and BIRC2, and E2 ubiquitin-conjugating enzymes UBE2N and UBE2D3. In cooperation with TAX1BP1 promotes ubiquitination of UBE2N and proteasomal degradation of UBE2N and UBE2D3. Upon TNF stimulation, deubiquitinates 'Lys-63'-polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys-48'-polyubiquitin chains. This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NF-kappa-B. Deubiquitinates TRAF6 probably acting on 'Lys-63'-linked polyubiquitin. Upon T-cell receptor (TCR)-mediated T-cell activation, deubiquitinates 'Lys-63'-polyubiquitin chains on MALT1 thereby mediating disassociation of the CBM (CARD11:BCL10:MALT1) and IKK complexes and preventing sustained IKK activation. Deubiquitinates NEMO/IKBKG; the function is facilitated by TNIP1 and leads to inhibition of NF-kappa-B activation. Upon stimulation by bacterial peptidoglycans, probably deubiquitinates RIPK2. Can also inhibit I-kappa-B-kinase (IKK) through a non-catalytic mechanism which involves polyubiquitin; polyubiquitin promotes association with IKBKG and prevents IKK MAP3K7-mediated phosphorylation. Targets TRAF2 for lysosomal degradation. In vitro able to deubiquitinate 'Lys-11'-, 'Lys-48'- and 'Lys-63' polyubiquitin chains. Inhibitor of programmed cell death. Has a role in the function of the lymphoid system. Required for LPS-induced production of proinflammatory cytokines and IFN beta in LPS-tolerized macrophages. Proteolytically cleaved by MALT1 upon TCR stimulation; disrupts NF-kappa-B inhibitory function and results in increased IL-2 production. It is proposed that only a fraction of TNFAIP3 colocalized with TCR and CBM complex is cleaved, leaving the main TNFAIP3 pool intact. Belongs to the peptidase C64 family. NOD-like receptor signaling pathway;Measles;NOD1/2 Signaling Pathway;Negative regulators of DDX58/IFIH1 signaling;TNFR1-induced proapoptotic signaling;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;Ovarian tumor domain proteases PE1 6 +NX_P21583 Kit ligand 273 30899 5.86 1 Cytoplasm;Cell membrane;Secreted;Lamellipodium;Filopodium;Cytoplasmic vesicle;Cytoskeleton Hyperpigmentation with or without hypopigmentation, familial progressive;Deafness, congenital, unilateral or asymmetric Ligand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. KITLG/SCF binding can activate several signaling pathways. Promotes phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and subsequent activation of the kinase AKT1. KITLG/SCF and KIT also transmit signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. KITLG/SCF and KIT promote activation of STAT family members STAT1, STAT3 and STAT5. KITLG/SCF and KIT promote activation of PLCG1, leading to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KITLG/SCF acts synergistically with other cytokines, probably interleukins. A soluble form (sKITLG) is produced by proteolytic processing of isoform 1 in the extracellular domain.;A soluble form exists as a cleavage product of the extracellular domain.;Found in two differentially glycosylated forms, LMW-SCF and HMW-SCF. LMW-SCF is fully N-glycosylated at Asn-145, partially N-glycosylated at Asn-90, O-glycosylated at Ser-167, Thr-168 and Thr-180, and not glycosylated at Asn-97 or Asn-118. HMW-SCF is N-glycosylated at Asn-118, Asn-90 and Asn-145, O-glycosylated at Ser-167, Thr-168 and Thr-180, and not glycosylated at Asn-97. Belongs to the SCF family. Cytokine-cytokine receptor interaction;Hematopoietic cell lineage;Melanogenesis;Pathways in cancer;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Signaling by SCF-KIT;Regulation of KIT signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 12 +NX_P21589 5'-nucleotidase 574 63368 6.58 0 Nucleoplasm;Cytosol;Cell membrane Calcification of joints and arteries Hydrolyzes extracellular nucleotides into membrane permeable nucleosides. Exhibits AMP-, NAD-, and NMN-nucleosidase activities. NA Belongs to the 5'-nucleotidase family. Purine metabolism;Pyrimidine metabolism;Nicotinate and nicotinamide metabolism;Metabolic pathways;Pyrimidine catabolism;Purine catabolism;Nicotinate metabolism PE1 6 +NX_P21673 Diamine acetyltransferase 1 171 20024 5.09 0 Cytoplasm;Nucleus NA Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine = spermidine >> spermine > N(1)-acetylspermine > putrescine. This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines. Also involved in the regulation of polyamine transport out of cells. Acts on 1,3-diaminopropane, 1,5-diaminopentane, putrescine, spermidine (forming N(1)- and N(8)-acetylspermidine), spermine, N(1)-acetylspermidine and N(8)-acetylspermidine. NA Belongs to the acetyltransferase family. Amine and polyamine degradation; putrescine degradation; N-acetylputrescine from putrescine: step 1/1.;Arginine and proline metabolism;Metabolic pathways;Interconversion of polyamines PE1 X +NX_P21675 Transcription initiation factor TFIID subunit 1 1872 212677 4.97 0 Nucleoplasm;Nucleus Dystonia 3, torsion, X-linked;Mental retardation, X-linked, syndromic, 33 Largest component and core scaffold of the TFIID basal transcription factor complex (PubMed:25412659, PubMed:27007846). Contains novel N- and C-terminal Ser/Thr kinase domains which can autophosphorylate or transphosphorylate other transcription factors. Phosphorylates TP53 on 'Thr-55' which leads to MDM2-mediated degradation of TP53. Phosphorylates GTF2A1 and GTF2F1 on Ser residues. Possesses DNA-binding activity (PubMed:25412659). Essential for progression of the G1 phase of the cell cycle (PubMed:11278496, PubMed:15053879, PubMed:2038334, PubMed:8450888, PubMed:8625415, PubMed:9660973, PubMed:9858607). Exhibits histone acetyltransferase activity towards histones H3 and H4 (PubMed:15870300). Phosphorylated by casein kinase II in vitro. Belongs to the TAF1 family. Basal transcription factors;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;Regulation of TP53 Activity through Phosphorylation PE1 X +NX_P21695 Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic 349 37568 5.81 0 Cytoplasm Hypertriglyceridemia, transient infantile NA NA Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family. Glycerophospholipid metabolism;Synthesis of PA PE1 12 +NX_P21709 Ephrin type-A receptor 1 976 108127 6.2 1 Cell membrane NA Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds with a low affinity EFNA3 and EFNA4 and with a high affinity to EFNA1 which most probably constitutes its cognate/functional ligand. Upon activation by EFNA1 induces cell attachment to the extracellular matrix inhibiting cell spreading and motility through regulation of ILK and downstream RHOA and RAC. Plays also a role in angiogenesis and regulates cell proliferation. May play a role in apoptosis. Ubiquitinated.;Phosphorylated. Autophosphorylation is stimulated by its ligand EFNA1. Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. Axon guidance;EPH-Ephrin signaling;EPH-ephrin mediated repulsion of cells;POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation;EPHA-mediated growth cone collapse PE1 7 +NX_P21728 D(1A) dopamine receptor 446 49293 8.64 7 Dendrite;Dendritic spine;Endoplasmic reticulum membrane;Cell membrane NA Dopamine receptor whose activity is mediated by G proteins which activate adenylyl cyclase. DRD1 is phosphorylated by GRK5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Gap junction;Dopaminergic synapse;G alpha (s) signalling events;Dopamine receptors PE1 5 +NX_P21730 C5a anaphylatoxin chemotactic receptor 1 350 39336 9.22 7 Cytoplasmic vesicle;Cell membrane NA Receptor for the chemotactic and inflammatory peptide anaphylatoxin C5a (PubMed:1847994, PubMed:8182049, PubMed:7622471, PubMed:9553099, PubMed:10636859, PubMed:15153520, PubMed:29300009). The ligand interacts with at least two sites on the receptor: a high-affinity site on the extracellular N-terminus, and a second site in the transmembrane region which activates downstream signaling events (PubMed:8182049, PubMed:7622471, PubMed:9553099). Receptor activation stimulates chemotaxis, granule enzyme release, intracellular calcium release and superoxide anion production (PubMed:10636859, PubMed:15153520). Phosphorylated on serine residues in response to C5a binding, resulting in internalization of the receptor and short-term desensitization to the ligand. The key residues involved in this process are Ser-334 and Ser-338.;Sulfation plays a critical role in the association of C5aR with C5a, but no significant role in the ability of the receptor to transduce a signal and mobilize calcium in response to a small a small peptide agonist (PubMed:11342590). Sulfation at Tyr-14 is important for CHIPS binding (PubMed:21706042). Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Complement and coagulation cascades;Staphylococcus aureus infection;G alpha (i) signalling events;Peptide ligand-binding receptors;Regulation of Complement cascade;Neutrophil degranulation PE1 19 +NX_P21731 Thromboxane A2 receptor 343 37431 10 7 Nucleus speckle;Cell membrane Bleeding disorder, platelet-type 13 Inhibits adenylyl cyclase.;Receptor for thromboxane A2 (TXA2), a potent stimulator of platelet aggregation. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system. In the kidney, the binding of TXA2 to glomerular TP receptors causes intense vasoconstriction. Activates phospholipase C.;Activates adenylyl cyclase. TBXA2R is phosphorylated by GRK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;G alpha (q) signalling events;G alpha (12/13) signalling events;Prostanoid ligand receptors;Thromboxane signalling through TP receptor PE1 19 +NX_P21741 Midkine 143 15585 9.84 0 Cytoplasmic vesicle;Secreted NA Secreted protein that functions as cytokine and growth factor and mediates its signal through cell-surface proteoglycan and non-proteoglycan receptors (PubMed:18469519, PubMed:12573468, PubMed:12122009, PubMed:10212223, PubMed:24458438, PubMed:15466886, PubMed:12084985, PubMed:10772929). Binds cell-surface proteoglycan receptors via their chondroitin sulfate (CS) groups (PubMed:12084985, PubMed:10212223). Thereby regulates many processes like inflammatory response, cell proliferation, cell adhesion, cell growth, cell survival, tissue regeneration, cell differentiation and cell migration (PubMed:12573468, PubMed:12122009, PubMed:10212223, PubMed:10683378, PubMed:24458438, PubMed:22323540, PubMed:12084985, PubMed:15466886, PubMed:10772929). Participates in inflammatory processes by exerting two different activities. Firstly, mediates neutrophils and macrophages recruitment to the sites of inflammation both by direct action by cooperating namely with ITGB2 via LRP1 and by inducing chemokine expression (PubMed:10683378, PubMed:24458438). This inflammation can be accompanied by epithelial cell survival and smooth muscle cell migration after renal and vessel damage, respectively (PubMed:10683378). Secondly, suppresses the development of tolerogenic dendric cells thereby inhibiting the differentiation of regulatory T cells and also promote T cell expansion through NFAT signaling and Th1 cell differentiation (PubMed:22323540). Promotes tissue regeneration after injury or trauma. After heart damage negatively regulates the recruitment of inflammatory cells and mediates cell survival through activation of anti-apoptotic signaling pathways via MAPKs and AKT pathways through the activation of angiogenesis (By similarity). Also facilitates liver regeneration as well as bone repair by recruiting macrophage at trauma site and by promoting cartilage development by facilitating chondrocyte differentiation (By similarity). Plays a role in brain by promoting neural precursor cells survival and growth through interaction with heparan sulfate proteoglycans (By similarity). Binds PTPRZ1 and promotes neuronal migration and embryonic neurons survival (PubMed:10212223). Binds SDC3 or GPC2 and mediates neurite outgrowth and cell adhesion (PubMed:12084985, PubMed:1768439). Binds chondroitin sulfate E and heparin leading to inhibition of neuronal cell adhesion induced by binding with GPC2 (PubMed:12084985). Binds CSPG5 and promotes elongation of oligodendroglial precursor-like cells (By similarity). Also binds ITGA6:ITGB1 complex; this interaction mediates MDK-induced neurite outgrowth (PubMed:15466886, PubMed:1768439). Binds LRP1; promotes neuronal survival (PubMed:10772929). Binds ITGA4:ITGB1 complex; this interaction mediates MDK-induced osteoblast cells migration through PXN phosphorylation (PubMed:15466886). Binds anaplastic lymphoma kinase (ALK) which induces ALK activation and subsequent phosphorylation of the insulin receptor substrate (IRS1), followed by the activation of mitogen-activated protein kinase (MAPK) and PI3-kinase, and the induction of cell proliferation (PubMed:12122009). Promotes epithelial to mesenchymal transition through interaction with NOTCH2 (PubMed:18469519). During arteriogenesis, plays a role in vascular endothelial cell proliferation by inducing VEGFA expression and release which in turn induces nitric oxide synthase expression. Moreover activates vasodilation through nitric oxide synthase activation (By similarity). Negatively regulates bone formation in response to mechanical load by inhibiting Wnt/beta-catenin signaling in osteoblasts (By similarity). In addition plays a role in hippocampal development, working memory, auditory response, early fetal adrenal gland development and the female reproductive system (By similarity). NA Belongs to the pleiotrophin family. NOTCH2 Activation and Transmission of Signal to the Nucleus PE1 11 +NX_P21754 Zona pellucida sperm-binding protein 3 424 47018 5.49 1 Cytoplasm;Extracellular matrix;Cell membrane Oocyte maturation defect 3 Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy. The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP3 is essential for sperm binding and zona matrix formation. Proteolytically cleaved before the transmembrane segment to yield the secreted ectodomain incorporated in the zona pellucida.;O-glycosylated; removal of O-linked glycans may play an important role in the post-fertilization block to polyspermy.;N-glycosylated. Belongs to the ZP domain family. ZPC subfamily. Interaction With Cumulus Cells And The Zona Pellucida PE1 7 +NX_P21757 Macrophage scavenger receptor types I and II 451 49762 5.61 1 Membrane Prostate cancer;Barrett esophagus Membrane glycoproteins implicated in the pathologic deposition of cholesterol in arterial walls during atherogenesis. Two types of receptor subunits exist. These receptors mediate the endocytosis of a diverse group of macromolecules, including modified low density lipoproteins (LDL) (PubMed:2251254).;Does not internalize acetylated LDL (PubMed:9548586). NA NA Phagosome;Scavenging by Class A Receptors PE1 8 +NX_P21781 Fibroblast growth factor 7 194 22509 9.29 0 Nucleoplasm;Secreted;Nucleolus NA Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. Growth factor active on keratinocytes. Possible major paracrine effector of normal epithelial cell proliferation. NA Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;RAF/MAP kinase cascade;FGFR2b ligand binding and activation;PI3K Cascade;PIP3 activates AKT signaling;Activated point mutants of FGFR2;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade, FGFR2;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;Negative regulation of FGFR2 signaling;Signaling by FGFR2 in disease;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 15 +NX_P21796 Voltage-dependent anion-selective channel protein 1 283 30773 8.62 19 Mitochondrion outer membrane;Cytoplasmic vesicle;Membrane raft;Cell membrane NA Forms a channel through the mitochondrial outer membrane and also the plasma membrane. The channel at the outer mitochondrial membrane allows diffusion of small hydrophilic molecules; in the plasma membrane it is involved in cell volume regulation and apoptosis. It adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV. The open state has a weak anion selectivity whereas the closed state is cation-selective (PubMed:11845315, PubMed:18755977, PubMed:20230784, PubMed:8420959). May participate in the formation of the permeability transition pore complex (PTPC) responsible for the release of mitochondrial products that triggers apoptosis (PubMed:15033708, PubMed:25296756). Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.;Phosphorylation at Ser-193 by NEK1 promotes the open conformational state preventing excessive mitochondrial membrane permeability and subsequent apoptotic cell death after injury. Phosphorylation by the AKT-GSK3B axis stabilizes the protein probably by preventing ubiquitin-mediated proteasomal degradation.;VDAC1 is phosphorylated by PRKCE (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the eukaryotic mitochondrial porin family. Calcium signaling pathway;Parkinson's disease;Huntington's disease;Influenza A;HTLV-I infection;Mitochondrial protein import;Pyruvate metabolism;Pink/Parkin Mediated Mitophagy;Ub-specific processing proteases;Mitochondrial calcium ion transport PE1 5 +NX_P21802 Fibroblast growth factor receptor 2 821 92025 5.61 1 Golgi apparatus;Cell membrane;Cell junction;Secreted;Nucleoplasm;Cytoplasmic vesicle Jackson-Weiss syndrome;Lacrimo-auriculo-dento-digital syndrome;Pfeiffer syndrome;Saethre-Chotzen syndrome;Bent bone dysplasia syndrome;Crouzon syndrome;Beare-Stevenson cutis gyrata syndrome;Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis;Apert syndrome;Familial scaphocephaly syndrome Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation. Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1. Ubiquitinated. FGFR2 is rapidly ubiquitinated after autophosphorylation, leading to internalization and degradation. Subject to degradation both in lysosomes and by the proteasome.;Autophosphorylated. Binding of FGF family members together with heparan sulfate proteoglycan or heparin promotes receptor dimerization and autophosphorylation on several tyrosine residues. Autophosphorylation occurs in trans between the two FGFR molecules present in the dimer. Phosphorylation at Tyr-769 is essential for interaction with PLCG1.;N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form in the Golgi apparatus. Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily. MAPK signaling pathway;Endocytosis;Regulation of actin cytoskeleton;Pathways in cancer;Prostate cancer;RAF/MAP kinase cascade;FGFR2b ligand binding and activation;PI3K Cascade;PIP3 activates AKT signaling;FGFR2c ligand binding and activation;Activated point mutants of FGFR2;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade, FGFR2;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;Negative regulation of FGFR2 signaling;Signaling by FGFR2 in disease;Signaling by FGFR2 amplification mutants;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Signaling by FGFR2 IIIa TM;Signaling by FGFR2 fusions PE1 10 +NX_P21810 Biglycan 368 41654 7.16 0 Endoplasmic reticulum;Golgi apparatus;Extracellular matrix Meester-Loeys syndrome;Spondyloepimetaphyseal dysplasia, X-linked May be involved in collagen fiber assembly. The two attached glycosaminoglycan chains can be either chondroitin sulfate or dermatan sulfate. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class I subfamily. Chondroitin sulfate biosynthesis;A tetrasaccharide linker sequence is required for GAG synthesis;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;ECM proteoglycans;Dermatan sulfate biosynthesis;CS/DS degradation;Defective CHST3 causes SEDCJD;Defective CHST14 causes EDS, musculocontractural type;Defective CHSY1 causes TPBS;Defective B3GALT6 causes EDSP2 and SEMDJL1 PE1 X +NX_P21815 Bone sialoprotein 2 317 35148 4.14 0 Secreted NA Binds tightly to hydroxyapatite. Appears to form an integral part of the mineralized matrix. Probably important to cell-matrix interaction. Promotes Arg-Gly-Asp-dependent cell attachment. N-glycosylated; glycans consist of sialylated and core-fucosylated bi-, tri- and tetraantennary chains.;Sulfated on either Tyr-313 or Tyr-314.;O-glycosylated at eight sites; mucin-type glycans contain Gal, GlcNAc, GalNAc and terminal NeuAc. NA Focal adhesion;ECM-receptor interaction;Integrin cell surface interactions;ECM proteoglycans PE1 4 +NX_P21817 Ryanodine receptor 1 5038 565176 5.18 6 Golgi apparatus;Sarcoplasmic reticulum;Cytoplasmic vesicle;Cytosol;Sarcoplasmic reticulum membrane Central core disease of muscle;Malignant hyperthermia 1;Multiminicore disease with external ophthalmoplegia Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules (PubMed:11741831, PubMed:16163667). Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm (PubMed:18268335). Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis (By similarity). Activated by reversible S-nitrosylation (By similarity). Repeated very high-level exercise increases S-nitrosylation (PubMed:18268335).;Channel activity is modulated by phosphorylation. Phosphorylation at Ser-2843 may increase channel activity. Repeated very high-level exercise increases phosphorylation at Ser-2843. Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR1 subfamily. Calcium signaling pathway;Long-term depression;Stimuli-sensing channels;Ion homeostasis PE1 19 +NX_P21854 B-cell differentiation antigen CD72 359 40220 8.62 1 Membrane;Nucleoplasm;Mitochondrion NA Plays a role in B-cell proliferation and differentiation. Phosphorylated upon engagement of the B-cell receptor, probably by LYN or SYK. Phosphorylation at Tyr-7 is important for interaction with PTPN6/SHP-1 (By similarity). NA B cell receptor signaling pathway;Other semaphorin interactions PE1 9 +NX_P21860 Receptor tyrosine-protein kinase erbB-3 1342 148098 6.11 1 Secreted;Cytoskeleton;Cell membrane Lethal congenital contracture syndrome 2;Erythroleukemia, familial Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins. Binds to neuregulin-1 (NRG1) and is activated by it; ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase (PubMed:20682778). May also be activated by CSPG5 (PubMed:15358134). Involved in the regulation of myeloid cell differentiation (PubMed:27416908). Autophosphorylated (PubMed:20351256). Ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase (PubMed:20682778).;ERBB3 is phosphorylated by CDK5;Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily. ErbB signaling pathway;Calcium signaling pathway;Endocytosis;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Signaling by ERBB2;Signaling by ERBB4;SHC1 events in ERBB2 signaling;PI3K events in ERBB2 signaling;GRB7 events in ERBB2 signaling;Downregulation of ERBB2:ERBB3 signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;ERBB2 Regulates Cell Motility;ERBB2 Activates PTK6 Signaling;Downregulation of ERBB2 signaling PE1 12 +NX_P21912 Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial 280 31630 9.03 0 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion;Cell membrane Pheochromocytoma;Paragangliomas 4;Paraganglioma and gastric stromal sarcoma Iron-sulfur protein (IP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). NA Belongs to the succinate dehydrogenase/fumarate reductase iron-sulfur protein family. Carbohydrate metabolism; tricarboxylic acid cycle; fumarate from succinate (eukaryal route): step 1/1.;Citrate cycle (TCA cycle);Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Citric acid cycle (TCA cycle) PE1 1 +NX_P21917 D(4) dopamine receptor 419 43901 9.24 7 Cell membrane NA Dopamine receptor responsible for neuronal signaling in the mesolimbic system of the brain, an area of the brain that regulates emotion and complex behavior. Activated by dopamine, but also by epinephrine and norepinephrine, and by numerous synthetic agonists and drugs (PubMed:9003072, PubMed:16423344, PubMed:27659709, PubMed:29051383). Agonist binding triggers signaling via G proteins that inhibit adenylyl cyclase (PubMed:7512953, PubMed:7643093, PubMed:16423344, PubMed:27659709, PubMed:29051383). Modulates the circadian rhythm of contrast sensitivity by regulating the rhythmic expression of NPAS2 in the retinal ganglion cells (By similarity). Palmitoylated. Palmitoylation of the C-terminal Cys is important for normal expression at the cell membrane.;Polyubiquitinated by the BCR(KLHL12) E3 ubiquitin ligase complex: polyubiquitination does not lead to degradation of DRD4 protein. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Dopaminergic synapse;G alpha (i) signalling events;Dopamine receptors PE1 11 +NX_P21918 D(1B) dopamine receptor 477 52951 5.23 7 Cell membrane Benign essential blepharospasm Dopamine receptor whose activity is mediated by G proteins which activate adenylyl cyclase. NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Dopaminergic synapse;G alpha (s) signalling events;Dopamine receptors PE1 4 +NX_P21926 CD9 antigen 228 25416 6.8 4 Extracellular exosome;Cytoplasm;Membrane;Cell membrane NA Integral membrane protein associated with integrins, which regulates different processes, such as sperm-egg fusion, platelet activation and aggregation, and cell adhesion (PubMed:8478605, PubMed:14575715, PubMed:18541721). Present at the cell surface of oocytes and plays a key role in sperm-egg fusion, possibly by organizing multiprotein complexes and the morphology of the membrane required for the fusion (By similarity). In myoblasts, associates with CD81 and PTGFRN and inhibits myotube fusion during muscle regeneration (By similarity). In macrophages, associates with CD81 and beta-1 and beta-2 integrins, and prevents macrophage fusion into multinucleated giant cells specialized in ingesting complement-opsonized large particles (PubMed:12796480). Also prevents the fusion between mononuclear cell progenitors into osteoclasts in charge of bone resorption (By similarity). Acts as a receptor for PSG17 (By similarity). Involved in platelet activation and aggregation (PubMed:18541721). Regulates paranodal junction formation (By similarity). Involved in cell adhesion, cell motility and tumor metastasis (PubMed:8478605, PubMed:7511626). Palmitoylated at a low, basal level in unstimulated platelets. The level of palmitoylation increases when platelets are activated by thrombin (in vitro). The protein exists in three forms with molecular masses between 22 and 27 kDa, and is known to carry covalently linked fatty acids. Belongs to the tetraspanin (TM4SF) family. Hematopoietic cell lineage;Uptake and function of diphtheria toxin;Acrosome Reaction and Sperm:Oocyte Membrane Binding;Platelet degranulation PE1 12 +NX_P21941 Cartilage matrix protein 496 53701 7.85 0 Extracellular matrix NA Cartilage matrix protein is a major component of the extracellular matrix of non-articular cartilage. It binds to collagen. NA NA ECM proteoglycans PE1 1 +NX_P21953 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial 392 43122 5.89 0 Mitochondrion matrix;Mitochondrion;Nucleolus Maple syrup urine disease 1B The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). NA NA Valine, leucine and isoleucine degradation;Metabolic pathways;Branched-chain amino acid catabolism;Glyoxylate metabolism and glycine degradation PE1 6 +NX_P21964 Catechol O-methyltransferase 271 30037 5.26 1 Endoplasmic reticulum;Cytoplasm;Cytoplasmic vesicle;Cell membrane Schizophrenia Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol. The N-terminus is blocked. Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O-methyltransferase family. Steroid hormone biosynthesis;Tyrosine metabolism;Metabolic pathways;Dopaminergic synapse;Methylation;Enzymatic degradation of dopamine by COMT;Enzymatic degradation of Dopamine by monoamine oxidase PE1 22 +NX_P21980 Protein-glutamine gamma-glutamyltransferase 2 687 77329 5.11 0 Cytosol;Cell membrane NA Catalyzes the cross-linking of proteins, such as WDR54, and the conjugation of polyamines to proteins. NA Belongs to the transglutaminase superfamily. Transglutaminase family. Huntington's disease PE1 20 +NX_P22001 Potassium voltage-gated channel subfamily A member 3 575 63842 5.61 6 Cell membrane NA Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. N-glycosylation promotes the cell surface expression. Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.3/KCNA3 sub-subfamily. Voltage gated Potassium channels PE1 1 +NX_P22003 Bone morphogenetic protein 5 454 51737 9.07 0 Secreted NA Induces cartilage and bone formation. NA Belongs to the TGF-beta family. Hedgehog signaling pathway;TGF-beta signaling pathway PE1 6 +NX_P22004 Bone morphogenetic protein 6 513 57226 8.39 0 Mitochondrion;Secreted NA Induces cartilage and bone formation. NA Belongs to the TGF-beta family. Hedgehog signaling pathway;TGF-beta signaling pathway PE1 6 +NX_P22033 Methylmalonyl-CoA mutase, mitochondrial 750 83134 6.48 0 Mitochondrion matrix;Mitochondrion;Cytosol Methylmalonic aciduria type mut Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species. NA Belongs to the methylmalonyl-CoA mutase family. Valine, leucine and isoleucine degradation;Glyoxylate and dicarboxylate metabolism;Propanoate metabolism;Metabolic pathways;Cobalamin (Cbl, vitamin B12) transport and metabolism;Defective MMAA causes methylmalonic aciduria type cblA;Defective MUT causes methylmalonic aciduria mut type;Propionyl-CoA catabolism PE1 6 +NX_P22059 Oxysterol-binding protein 1 807 89421 6.91 0 trans-Golgi network;Golgi apparatus;Endoplasmic reticulum membrane;Nucleoplasm;Golgi apparatus membrane;Cytosol;Perinuclear region NA Lipid transporter involved in lipid countertransport between the Golgi complex and membranes of the endoplasmic reticulum: specifically exchanges sterol with phosphatidylinositol 4-phosphate (PI4P), delivering sterol to the Golgi in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum (PubMed:24209621). Binds cholesterol and a range of oxysterols including 25-hydroxycholesterol (PubMed:15746430, PubMed:17428193). Cholesterol binding promotes the formation of a complex with PP2A and a tyrosine phosphatase which dephosphorylates ERK1/2, whereas 25-hydroxycholesterol causes its disassembly (PubMed:15746430). Regulates cholesterol efflux by decreasing ABCA1 stability (PubMed:18450749). NA Belongs to the OSBP family. Sphingolipid de novo biosynthesis;Synthesis of bile acids and bile salts PE1 11 +NX_P22061 Protein-L-isoaspartate(D-aspartate) O-methyltransferase 227 24636 6.7 0 Cytoplasm;Cytosol NA Catalyzes the methyl esterification of L-isoaspartyl and D-aspartyl residues in peptides and proteins that result from spontaneous decomposition of normal L-aspartyl and L-asparaginyl residues. It plays a role in the repair and/or degradation of damaged proteins. Acts on EIF4EBP2, microtubule-associated protein 2, calreticulin, clathrin light chains a and b, Ubiquitin carboxyl-terminal hydrolase isozyme L1, phosphatidylethanolamine-binding protein 1, stathmin, beta-synuclein and alpha-synuclein. NA Belongs to the methyltransferase superfamily. L-isoaspartyl/D-aspartyl protein methyltransferase family. Protein repair PE1 6 +NX_P22079 Lactoperoxidase 712 80288 8.89 0 Secreted NA Antimicrobial agent which utilizes hydrogen peroxide and thiocyanate (SCN) to generate the antimicrobial substance hypothiocyanous acid (HOSCN) (By similarity). May contribute to airway host defense against infection. NA Belongs to the peroxidase family. XPO subfamily. Salivary secretion;Events associated with phagocytolytic activity of PMN cells PE1 17 +NX_P22083 Alpha-(1,3)-fucosyltransferase 4 530 59084 10.04 1 Golgi stack membrane;Cytoplasmic vesicle NA May catalyze alpha-1,3 glycosidic linkages involved in the expression of Lewis X/SSEA-1 and VIM-2 antigens. NA Belongs to the glycosyltransferase 10 family. Protein modification; protein glycosylation.;Other types of O-glycan biosynthesis;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;Lewis blood group biosynthesis PE1 11 +NX_P22087 rRNA 2'-O-methyltransferase fibrillarin 321 33784 10.18 0 Nucleolus;Nucleus NA S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins. Involved in pre-rRNA processing by catalyzing the site-specific 2'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Site specificity is provided by a guide RNA that base pairs with the substrate. Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA. Also acts as a protein methyltransferase by mediating methylation of 'Gln-105' of histone H2A (H2AQ104me), a modification that impairs binding of the FACT complex and is specifically present at 35S ribosomal DNA locus (PubMed:24352239). Ubiquitinated. Ubiquitination leads to proteasomal degradation (PubMed:19208757). Deubiquitinated by USP36 (PubMed:19208757).;By homology to other fibrillarins, some or all of the N-terminal domain arginines are modified to asymmetric dimethylarginine (DMA). Belongs to the methyltransferase superfamily. Fibrillarin family. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 19 +NX_P22090 40S ribosomal protein S4, Y isoform 1 263 29456 10.25 0 NA NA NA NA Belongs to the eukaryotic ribosomal protein eS4 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 Y +NX_P22102 Trifunctional purine biosynthetic protein adenosine-3 1010 107767 6.26 0 Nucleoplasm;Cytosol;Mitochondrion NA NA NA In the N-terminal section; belongs to the GARS family.;In the central section; belongs to the AIR synthase family.;In the C-terminal section; belongs to the GART family. Purine metabolism; IMP biosynthesis via de novo pathway; N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide from N(1)-(5-phospho-D-ribosyl)glycinamide (10-formyl THF route): step 1/1.;Purine metabolism; IMP biosynthesis via de novo pathway; N(1)-(5-phospho-D-ribosyl)glycinamide from 5-phospho-alpha-D-ribose 1-diphosphate: step 2/2.;Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole from N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide: step 2/2.;Purine metabolism;One carbon pool by folate;Metabolic pathways;Purine ribonucleoside monophosphate biosynthesis PE1 21 +NX_P22105 Tenascin-X 4244 458388 5.05 0 Extracellular matrix Ehlers-Danlos syndrome, classic-like;Vesicoureteral reflux 8 Appears to mediate interactions between cells and the extracellular matrix. Substrate-adhesion molecule that appears to inhibit cell migration. Accelerates collagen fibril formation. May play a role in supporting the growth of epithelial tumors. NA Belongs to the tenascin family. Focal adhesion;ECM-receptor interaction;ECM proteoglycans PE1 6 +NX_P22223 Cadherin-3 829 91418 4.61 1 Cell junction;Cell membrane Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome;Hypotrichosis congenital with juvenile macular dystrophy Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. NA NA Cell adhesion molecules (CAMs);Adherens junctions interactions PE1 16 +NX_P22234 Multifunctional protein ADE2 425 47079 6.94 0 Cytosol NA NA NA In the N-terminal section; belongs to the SAICAR synthetase family.;In the C-terminal section; belongs to the AIR carboxylase family. Class II subfamily. Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate: step 1/2.;Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate from 5-amino-1-(5-phospho-D-ribosyl)imidazole (carboxylase route): step 1/1.;Purine metabolism;Metabolic pathways;Purine ribonucleoside monophosphate biosynthesis PE1 4 +NX_P22301 Interleukin-10 178 20517 8.19 0 Secreted NA Major immune regulatory cytokine that acts on many cells of the immune system where it has profound anti-inflammatory functions, limiting excessive tissue disruption caused by inflammation. Mechanistically, IL10 binds to its heterotetrameric receptor comprising IL10RA and IL10RB leading to JAK1 and STAT2-mediated phosphorylation of STAT3 (PubMed:16982608). In turn, STAT3 translocates to the nucleus where it drives expression of anti-inflammatory mediators (PubMed:18025162). Targets antigen-presenting cells (APCs) such as macrophages and monocytes and inhibits their release of pro-inflammatory cytokines including granulocyte-macrophage colony-stimulating factor /GM-CSF, granulocyte colony-stimulating factor/G-CSF, IL-1 alpha, IL-1 beta, IL-6, IL-8 and TNF-alpha (PubMed:1940799, PubMed:7512027, PubMed:11564774). Interferes also with antigen presentation by reducing the expression of MHC-class II and co-stimulatory molecules, thereby inhibiting their ability to induce T cell activation (PubMed:8144879). In addition, controls the inflammatory response of macrophages by reprogramming essential metabolic pathways including mTOR signaling (By similarity). NA Belongs to the IL-10 family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;T cell receptor signaling pathway;Intestinal immune network for IgA production;Pertussis;Leishmaniasis;Chagas disease (American trypanosomiasis);African trypanosomiasis;Malaria;Toxoplasmosis;Amoebiasis;Staphylococcus aureus infection;Tuberculosis;Asthma;Autoimmune thyroid disease;Systemic lupus erythematosus;Allograft rejection;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 1 +NX_P22303 Acetylcholinesterase 614 67796 5.87 0 Golgi apparatus;Cell membrane;Secreted;Synapse;Cytoplasmic vesicle;Nucleus NA Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft. Role in neuronal apoptosis. NA Belongs to the type-B carboxylesterase/lipase family. Glycerophospholipid metabolism;Cholinergic synapse;Synthesis of PC;Synthesis, secretion, and deacylation of Ghrelin;Neurotransmitter clearance PE1 7 +NX_P22304 Iduronate 2-sulfatase 550 61873 5.21 0 Endoplasmic reticulum;Lysosome Mucopolysaccharidosis 2 Required for the lysosomal degradation of heparan sulfate and dermatan sulfate. The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. Belongs to the sulfatase family. Glycosaminoglycan degradation;Metabolic pathways;Lysosome;HS-GAG degradation;CS/DS degradation;MPS II - Hunter syndrome PE1 X +NX_P22307 Non-specific lipid-transfer protein 547 58994 6.44 0 Peroxisome;Cytoplasm;Mitochondrion Leukoencephalopathy with dystonia and motor neuropathy Mediates in vitro the transfer of all common phospholipids, cholesterol and gangliosides between membranes. May play a role in regulating steroidogenesis. NA In the N-terminal section; belongs to the thiolase-like superfamily. Thiolase family. Primary bile acid biosynthesis;Metabolic pathways;PPAR signaling pathway;Peroxisome;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Beta-oxidation of pristanoyl-CoA;alpha-linolenic acid (ALA) metabolism;Peroxisomal protein import;TYSND1 cleaves peroxisomal proteins PE1 1 +NX_P22309 UDP-glucuronosyltransferase 1-1 533 59591 8.19 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Microsome Transient familial neonatal hyperbilirubinemia;Gilbert syndrome;Crigler-Najjar syndrome 2;Crigler-Najjar syndrome 1 Lacks transferase activity but acts as a negative regulator of isoform 1.;UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4-methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone. NA Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Glucuronidation;Defective UGT1A1 causes hyperbilirubinemia PE1 2 +NX_P22310 UDP-glucuronosyltransferase 1-4 534 60025 8.79 1 Endoplasmic reticulum membrane;Microsome NA Lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity).;UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. NA Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Glucuronidation;Heme degradation;Defective UGT1A4 causes hyperbilirubinemia PE1 2 +NX_P22314 Ubiquitin-like modifier-activating enzyme 1 1058 117849 5.49 0 Cytoplasm;Nucleoplasm;Mitochondrion;Nucleus Spinal muscular atrophy X-linked 2 Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin-proteasome system (PubMed:1606621, PubMed:1447181). Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP (PubMed:1447181). Essential for the formation of radiation-induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sites (PubMed:22456334). ISGylated. Belongs to the ubiquitin-activating E1 family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Parkinson's disease;Antigen processing: Ubiquitination & Proteasome degradation;Synthesis of active ubiquitin: roles of E1 and E2 enzymes PE1 X +NX_P22352 Glutathione peroxidase 3 226 25552 8.26 0 Secreted NA Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione. The N-terminus is blocked. Belongs to the glutathione peroxidase family. Glutathione metabolism;Arachidonic acid metabolism;Detoxification of Reactive Oxygen Species PE1 5 +NX_P22362 C-C motif chemokine 1 96 10992 9.3 0 Secreted NA Cytokine that is chemotactic for monocytes but not for neutrophils. Binds to CCR8. NA Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 17 +NX_P22392 Nucleoside diphosphate kinase B 152 17298 8.52 0 Cytoplasm;Nucleoplasm;Lamellipodium;Ruffle;Cytosol;Nucleus NA Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate (By similarity). Negatively regulates Rho activity by interacting with AKAP13/LBC (PubMed:15249197). Acts as a transcriptional activator of the MYC gene; binds DNA non-specifically (PubMed:8392752, PubMed:19435876). Binds to both single-stranded guanine- and cytosine-rich strands within the nuclease hypersensitive element (NHE) III(1) region of the MYC gene promoter. Does not bind to duplex NHE III(1) (PubMed:19435876). Has G-quadruplex (G4) DNA-binding activity, which is independent of its nucleotide-binding and kinase activity. Binds both folded and unfolded G4 with similar low nanomolar affinities. Stabilizes folded G4s regardless of whether they are prefolded or not (PubMed:25679041). Exhibits histidine protein kinase activity (PubMed:20946858). NA Belongs to the NDK family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;Purine metabolism;Pyrimidine metabolism;Metabolic pathways;Interconversion of nucleotide di- and triphosphates;Neutrophil degranulation PE1 17 +NX_P22413 Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 925 104924 6.76 1 Basolateral cell membrane;Secreted;Cell membrane Diabetes mellitus, non-insulin-dependent;Cole disease;Arterial calcification of infancy, generalized, 1;Hypophosphatemic rickets, autosomal recessive, 2;Ossification of the posterior longitudinal ligament of the spine Nucleotide pyrophosphatase that generates diphosphate (PPi) and functions in bone mineralization and soft tissue calcification by regulating pyrophosphate levels (By similarity). PPi inhibits bone mineralization and soft tissue calcification by binding to nascent hydroxyapatite crystals, thereby preventing further growth of these crystals (PubMed:11004006). Preferentially hydrolyzes ATP, but can also hydrolyze other nucleoside 5' triphosphates such as GTP, CTP, TTP and UTP to their corresponding monophosphates with release of pyrophosphate and diadenosine polyphosphates, and also 3',5'-cAMP to AMP (PubMed:27467858, PubMed:8001561, PubMed:25344812). May also be involved in the regulation of the availability of nucleotide sugars in the endoplasmic reticulum and Golgi, and the regulation of purinergic signaling (PubMed:27467858, PubMed:8001561). Inhibits ectopic joint calcification and maintains articular chondrocytes by repressing hedgehog signaling; it is however unclear whether hedgehog inhibition is direct or indirect (By similarity). Appears to modulate insulin sensitivity and function (PubMed:10615944). Also involved in melanogenesis (PubMed:28964717). Also able to hydrolyze 2'-3'-cGAMP (cyclic GMP-AMP), a second messenger that activates TMEM173/STING and triggers type-I interferon production (PubMed:25344812). 2'-3'-cGAMP degradation takes place in the lumen or extracellular space, and not in the cytosol where it is produced; the role of 2'-3'-cGAMP hydrolysis is therefore unclear (PubMed:25344812). Not able to hydrolyze the 2'-3'-cGAMP linkage isomer 3'-3'-cGAMP (PubMed:25344812). N-glycosylated.;Autophosphorylated as part of the catalytic cycle of phosphodiesterase/pyrophosphatase activity.;The secreted form is produced through cleavage at Lys-103 by intracellular processing. Belongs to the nucleotide pyrophosphatase/phosphodiesterase family. Purine metabolism;Starch and sucrose metabolism;Riboflavin metabolism;Nicotinate and nicotinamide metabolism;Pantothenate and CoA biosynthesis;Metabolic pathways;Vitamin B2 (riboflavin) metabolism;Vitamin B5 (pantothenate) metabolism PE1 6 +NX_P22415 Upstream stimulatory factor 1 310 33538 5.36 0 Nucleoplasm;Nucleus Hyperlipidemia, familial combined, 1 Transcription factor that binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') that is found in a variety of viral and cellular promoters. NA NA Estrogen-dependent gene expression PE1 1 +NX_P22455 Fibroblast growth factor receptor 4 802 87954 6.36 1 Cytoplasm;Cell membrane;Secreted;Endoplasmic reticulum;Endosome Prostate cancer Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays a role in the regulation of cell proliferation, differentiation and migration, and in regulation of lipid metabolism, bile acid biosynthesis, glucose uptake, vitamin D metabolism and phosphate homeostasis. Required for normal down-regulation of the expression of CYP7A1, the rate-limiting enzyme in bile acid synthesis, in response to FGF19. Phosphorylates PLCG1 and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Promotes SRC-dependent phosphorylation of the matrix protease MMP14 and its lysosomal degradation. FGFR4 signaling is down-regulated by receptor internalization and degradation; MMP14 promotes internalization and degradation of FGFR4. Mutations that lead to constitutive kinase activation or impair normal FGFR4 inactivation lead to aberrant signaling. Autophosphorylated. Binding of FGF family members together with heparan sulfate proteoglycan or heparin promotes receptor dimerization and autophosphorylation on tyrosine residues. Autophosphorylation occurs in trans between the two FGFR molecules present in the dimer.;N-glycosylated. Full maturation of the glycan chains in the Golgi is essential for high affinity interaction with FGF19.;Ubiquitinated. Subject to proteasomal degradation when not fully glycosylated. Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily. MAPK signaling pathway;Endocytosis;Regulation of actin cytoskeleton;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;FGFR4 ligand binding and activation;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade, FGFR4;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;PI-3K cascade:FGFR4;Negative regulation of FGFR4 signaling;Signaling by FGFR4 in disease;betaKlotho-mediated ligand binding;FGFR4 mutant receptor activation;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 5 +NX_P22459 Potassium voltage-gated channel subfamily A member 4 653 73257 5.08 6 Axon;Cell membrane Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:19912772, PubMed:8495559). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:8495559). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA4 forms a potassium channel that opens in response to membrane depolarization, followed by rapid spontaneous channel closure (PubMed:19912772, PubMed:8495559). Likewise, a heterotetrameric channel formed by KCNA1 and KCNA4 shows rapid inactivation (PubMed:17156368). NA Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.4/KCNA4 sub-subfamily. Voltage gated Potassium channels PE1 11 +NX_P22460 Potassium voltage-gated channel subfamily A member 5 613 67228 5.68 6 Cell membrane Atrial fibrillation, familial, 7 Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:12130714). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation (PubMed:12130714). Homotetrameric channels display rapid activation and slow inactivation (PubMed:8505626, PubMed:12130714). May play a role in regulating the secretion of insulin in normal pancreatic islets.;Exhibits a voltage-dependent recovery from inactivation and an excessive cumulative inactivation (PubMed:11524461). Sumoylated on Lys-221, and Lys-536, preferentially with SUMO3. Sumoylation regulates the voltage sensitivity of the channel. Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.5/KCNA5 sub-subfamily. Voltage gated Potassium channels PE1 12 +NX_P22466 Galanin peptides 123 13302 6.84 0 Golgi apparatus;Cytoplasmic vesicle;Secreted Epilepsy, familial temporal lobe, 8 Endocrine hormone of the central and peripheral nervous systems that binds and activates the G protein-coupled receptors GALR1, GALR2, and GALR3. This small neuropeptide may regulate diverse physiologic functions including contraction of smooth muscle of the gastrointestinal and genitourinary tract, growth hormone and insulin release and adrenal secretion. NA Belongs to the galanin family. G alpha (i) signalling events;Peptide ligand-binding receptors PE1 11 +NX_P22492 Histone H1t 207 22019 11.71 0 Nucleus;Chromosome NA Testis-specific histone H1 that forms less compacted chromatin compared to other H1 histone subtypes (PubMed:26757249). Formation of more relaxed chromatin may be required to promote chromatin architecture required for proper chromosome regulation during meiosis, such as homologous recombination (PubMed:26757249). Histones H1 act as linkers that bind to nucleosomes and compact polynucleosomes into a higher-order chromatin configuration (Probable). Phosphorylated in early spermatids.;Citrullination at Arg-58 (H1R54ci) by PADI4 takes place within the DNA-binding site of H1 and results in its displacement from chromatin and global chromatin decondensation, thereby promoting pluripotency and stem cell maintenance. Belongs to the histone H1/H5 family. NA PE1 6 +NX_P22528 Cornifin-B 89 9888 8.85 0 Cytoplasm NA Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane. Can function as both amine donor and acceptor in transglutaminase-mediated cross-linkage. The N-terminus is blocked. Belongs to the cornifin (SPRR) family. Formation of the cornified envelope PE1 1 +NX_P22531 Small proline-rich protein 2E 72 7855 8.73 0 Cytoplasm NA Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane. NA Belongs to the cornifin (SPRR) family. Formation of the cornified envelope PE2 1 +NX_P22532 Small proline-rich protein 2D 72 7905 8.77 0 Cytoplasm NA Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane. NA Belongs to the cornifin (SPRR) family. Formation of the cornified envelope PE1 1 +NX_P22557 5-aminolevulinate synthase, erythroid-specific, mitochondrial 587 64633 8.39 0 Mitochondrion matrix Anemia, sideroblastic, 1;Erythropoietic protoporphyria, X-linked dominant NA NA Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1.;Glycine, serine and threonine metabolism;Porphyrin and chlorophyll metabolism;Metabolic pathways;Heme biosynthesis PE1 X +NX_P22570 NADPH:adrenodoxin oxidoreductase, mitochondrial 491 53837 8.72 0 Mitochondrion inner membrane;Mitochondrion Auditory neuropathy and optic atrophy Serves as the first electron transfer protein in all the mitochondrial P450 systems including cholesterol side chain cleavage in all steroidogenic tissues, steroid 11-beta hydroxylation in the adrenal cortex, 25-OH-vitamin D3-24 hydroxylation in the kidney, and sterol C-27 hydroxylation in the liver. NA Belongs to the ferredoxin--NADP reductase type 1 family. Steroid metabolism; cholesterol metabolism.;Pregnenolone biosynthesis;Endogenous sterols;Electron transport from NADPH to Ferredoxin;Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) PE1 17 +NX_P22607 Fibroblast growth factor receptor 3 806 87710 5.59 1 Cytoplasmic vesicle;Endoplasmic reticulum;Secreted;Cell membrane Lacrimo-auriculo-dento-digital syndrome;Camptodactyly, tall stature, and hearing loss syndrome;Bladder cancer;Keratinocytic non-epidermolytic nevus;Keratosis, seborrheic;Hypochondroplasia;Achondroplasia, severe, with developmental delay and acanthosis nigricans;Thanatophoric dysplasia 2;Achondroplasia;Multiple myeloma;Testicular germ cell tumor;Crouzon syndrome with acanthosis nigricans;Thanatophoric dysplasia 1;Cervical cancer;Muenke syndrome Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear. Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Plays a role in the regulation of vitamin D metabolism. Mutations that lead to constitutive kinase activation or impair normal FGFR3 maturation, internalization and degradation lead to aberrant signaling. Over-expressed or constitutively activated FGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A and STAT5B. Secreted isoform 3 retains its capacity to bind FGF1 and FGF2 and hence may interfere with FGF signaling. Autophosphorylated. Binding of FGF family members together with heparan sulfate proteoglycan or heparin promotes receptor dimerization and autophosphorylation on tyrosine residues. Autophosphorylation occurs in trans between the two FGFR molecules present in the dimer. Phosphorylation at Tyr-724 is essential for stimulation of cell proliferation and activation of PIK3R1, STAT1 and MAP kinase signaling. Phosphorylation at Tyr-760 is required for interaction with PIK3R1 and PLCG1.;N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form in the Golgi apparatus.;Ubiquitinated. Is rapidly ubiquitinated after ligand binding and autophosphorylation, leading to receptor internalization and degradation. Subject to both proteasomal and lysosomal degradation.;Autophosphorylated Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily. MAPK signaling pathway;Endocytosis;Regulation of actin cytoskeleton;Pathways in cancer;Bladder cancer;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;Signaling by activated point mutants of FGFR3;FGFR3c ligand binding and activation;FGFR3 mutant receptor activation;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade, FGFR3;SHC-mediated cascade:FGFR3;FRS-mediated FGFR3 signaling;PI-3K cascade:FGFR3;Negative regulation of FGFR3 signaling;FGFR3b ligand binding and activation;t(4;14) translocations of FGFR3;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Signaling by FGFR3 point mutants in cancer;Signaling by FGFR3 fusions in cancer PE1 4 +NX_P22612 cAMP-dependent protein kinase catalytic subunit gamma 351 40434 8.7 0 NA Bleeding disorder, platelet-type 19 Phosphorylates a large number of substrates in the cytoplasm and the nucleus. NA Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. cAMP subfamily. MAPK signaling pathway;Calcium signaling pathway;Chemokine signaling pathway;Oocyte meiosis;Apoptosis;Vascular smooth muscle contraction;Wnt signaling pathway;Hedgehog signaling pathway;Gap junction;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Olfactory transduction;Taste transduction;Insulin signaling pathway;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;MAPK6/MAPK4 signaling;Factors involved in megakaryocyte development and platelet production;VEGFA-VEGFR2 Pathway;Triglyceride catabolism;Hedgehog 'off' state;PKA activation;PKA activation in glucagon signalling;DARPP-32 events;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;CD209 (DC-SIGN) signaling;Regulation of insulin secretion;PKA-mediated phosphorylation of CREB;PKA-mediated phosphorylation of key metabolic factors;Rap1 signalling;CREB1 phosphorylation through the activation of Adenylate Cyclase;RET signaling;HDL assembly;ROBO receptors bind AKAP5;Regulation of glycolysis by fructose 2,6-bisphosphate metabolism PE1 9 +NX_P22626 Heterogeneous nuclear ribonucleoproteins A2/B1 353 37430 8.97 0 Extracellular exosome;Cytoplasm;Nucleoplasm;Cytoplasmic granule;Nucleus Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (Microbial infection) Involved in the transport of HIV-1 genomic RNA out of the nucleus, to the microtubule organizing center (MTOC), and then from the MTOC to the cytoplasm: acts by specifically recognizing and binding the A2RE (21 nucleotide hnRNP A2 response element) sequence motifs present on HIV-1 genomic RNA, and promotes its transport.;Heterogeneous nuclear ribonucleoprotein (hnRNP) that associates with nascent pre-mRNAs, packaging them into hnRNP particles. The hnRNP particle arrangement on nascent hnRNA is non-random and sequence-dependent and serves to condense and stabilize the transcripts and minimize tangling and knotting. Packaging plays a role in various processes such as transcription, pre-mRNA processing, RNA nuclear export, subcellular location, mRNA translation and stability of mature mRNAs (PubMed:19099192). Forms hnRNP particles with at least 20 other different hnRNP and heterogeneous nuclear RNA in the nucleus. Involved in transport of specific mRNAs to the cytoplasm in oligodendrocytes and neurons: acts by specifically recognizing and binding the A2RE (21 nucleotide hnRNP A2 response element) or the A2RE11 (derivative 11 nucleotide oligonucleotide) sequence motifs present on some mRNAs, and promotes their transport to the cytoplasm (PubMed:10567417). Specifically binds single-stranded telomeric DNA sequences, protecting telomeric DNA repeat against endonuclease digestion (By similarity). Also binds other RNA molecules, such as primary miRNA (pri-miRNAs): acts as a nuclear 'reader' of the N6-methyladenosine (m6A) mark by specifically recognizing and binding a subset of nuclear m6A-containing pri-miRNAs. Binding to m6A-containing pri-miRNAs promotes pri-miRNA processing by enhancing binding of DGCR8 to pri-miRNA transcripts (PubMed:26321680). Involved in miRNA sorting into exosomes following sumoylation, possibly by binding (m6A)-containing pre-miRNAs (PubMed:24356509). Acts as a regulator of efficiency of mRNA splicing, possibly by binding to m6A-containing pre-mRNAs (PubMed:26321680). Plays also a role in the activation of the innate immune response (PubMed:31320558). Mechanistically, senses the presence of viral DNA in the nucleus, homodimerizes and is demethylated by JMJD6 (PubMed:31320558). In turn, translocates to the cytoplasm where it activates the TBK1-IRF3 pathway, leading to interferon alpha/beta production (PubMed:31320558). Asymmetric dimethylation at Arg-266 constitutes the major methylation site (By similarity). According to a report, methylation affects subcellular location and promotes nuclear localization (PubMed:10772824). According to another report, methylation at Arg-266 does not influence nucleocytoplasmic shuttling (By similarity).;Sumoylated in exosomes, promoting miRNAs-binding.;HNRNPA2B1 is phosphorylated by CSNK2A2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);HNRNPA2B1 is phosphorylated by FYN (Phosphotyrosine:PTM-0255) NA mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 7 +NX_P22670 MHC class II regulatory factor RFX1 979 104758 5.89 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Regulatory factor essential for MHC class II genes expression. Binds to the X boxes of MHC class II genes. Also binds to an inverted repeat (ENH1) required for hepatitis B virus genes expression and to the most upstream element (alpha) of the RPL30 promoter. NA Belongs to the RFX family. NA PE1 19 +NX_P22674 Cyclin-O 350 38096 8.44 0 Cytoplasm Ciliary dyskinesia, primary, 29 Specifically required for generation of multiciliated cells, possibly by promoting a cell cycle state compatible with centriole amplification and maturation. Acts downstream of MCIDAS to promote mother centriole amplification and maturation in preparation for apical docking. NA Belongs to the cyclin family. NA PE1 5 +NX_P22676 Calretinin 271 31540 5.06 0 Cytosol NA Calretinin is a calcium-binding protein which is abundant in auditory neurons. NA Belongs to the calbindin family. NA PE1 16 +NX_P22680 Cytochrome P450 7A1 504 57661 8.48 1 Microsome membrane;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of endogenous cholesterol and its oxygenated derivatives (oxysterols) (PubMed:11013305, PubMed:12077124, PubMed:19965590, PubMed:2384150, PubMed:21813643). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:2384150, PubMed:11013305, PubMed:12077124, PubMed:19965590, PubMed:21813643). Functions as a critical regulatory enzyme of bile acid biosynthesis and cholesterol homeostasis. Catalyzes the hydroxylation of carbon hydrogen bond at 7-alpha position of cholesterol, a rate-limiting step in cholesterol catabolism and bile acid biosynthesis (PubMed:12077124, PubMed:19965590, PubMed:2384150). 7-alpha hydroxylates several oxysterols, including 4beta-hydroxycholesterol and 24-hydroxycholesterol (PubMed:11013305, PubMed:12077124). Catalyzes the oxidation of the 7,8 double bond of 7-dehydrocholesterol and lathosterol with direct and predominant formation of the 7-keto derivatives (PubMed:21813643). NA Belongs to the cytochrome P450 family. Steroid metabolism; cholesterol degradation.;Lipid metabolism; bile acid biosynthesis.;Primary bile acid biosynthesis;Steroid hormone biosynthesis;Metabolic pathways;PPAR signaling pathway;Bile secretion;PPARA activates gene expression;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 27-hydroxycholesterol;Endogenous sterols;Synthesis of bile acids and bile salts PE1 8 +NX_P22681 E3 ubiquitin-protein ligase CBL 906 99633 6.1 0 Golgi apparatus;Cytoplasm;Cell membrane;Cilium;Cytosol Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Adapter protein that functions as a negative regulator of many signaling pathways that are triggered by activation of cell surface receptors. Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Recognizes activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, EGFR, CSF1R, EPHA8 and KDR and terminates signaling. Recognizes membrane-bound HCK, SRC and other kinases of the SRC family and mediates their ubiquitination and degradation. Participates in signal transduction in hematopoietic cells. Plays an important role in the regulation of osteoblast differentiation and apoptosis. Essential for osteoclastic bone resorption. The 'Tyr-731' phosphorylated form induces the activation and recruitment of phosphatidylinositol 3-kinase to the cell membrane in a signaling pathway that is critical for osteoclast function. May be functionally coupled with the E2 ubiquitin-protein ligase UB2D3. In association with CBLB, required for proper feedback inhibition of ciliary platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway via ubiquitination and internalization of PDGFRA (By similarity). Phosphorylated on tyrosine residues by ALK, EGFR, SYK, FYN and ZAP70 (By similarity). Phosphorylated on tyrosine residues in response to FLT1 and KIT signaling. Phosphorylated on tyrosine residues by INSR and FGR. Phosphorylated on several tyrosine residues by constitutively activated FGFR3. Not phosphorylated at Tyr-731 by FGFR3. Phosphorylated on tyrosine residues by activated CSF1R, PDGFRA and PDGFRB. Phosphorylated on tyrosine residues by HCK.;Ubiquitinated, leading to its degradation via the proteasome (PubMed:11896602, PubMed:20094046). Ubiquitination is negatively regulated by IFT20 (PubMed:29237719).;CBL is phosphorylated by ABL1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);CBL is phosphorylated by ALK (Phosphotyrosine:PTM-0255);CBL is phosphorylated by HCK NA Protein modification; protein ubiquitination.;ErbB signaling pathway;Ubiquitin mediated proteolysis;Endocytosis;Jak-STAT signaling pathway;T cell receptor signaling pathway;Insulin signaling pathway;Bacterial invasion of epithelial cells;Pathways in cancer;Chronic myeloid leukemia;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;EGFR downregulation;Regulation of KIT signaling;Regulation of signaling by CBL;Spry regulation of FGF signaling;TGF-beta receptor signaling activates SMADs;Interleukin-6 signaling;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Constitutive Signaling by EGFRvIII;PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Negative regulation of MET activity;InlB-mediated entry of Listeria monocytogenes into host cell PE1 11 +NX_P22692 Insulin-like growth factor-binding protein 4 258 27934 6.81 0 Secreted NA IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. NA NA Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 17 +NX_P22694 cAMP-dependent protein kinase catalytic subunit beta 351 40623 8.84 0 Membrane;Cytoplasm;Nucleus;Cell membrane NA Mediates cAMP-dependent signaling triggered by receptor binding to GPCRs. PKA activation regulates diverse cellular processes such as cell proliferation, the cell cycle, differentiation and regulation of microtubule dynamics, chromatin condensation and decondensation, nuclear envelope disassembly and reassembly, as well as regulation of intracellular transport mechanisms and ion flux. Regulates the abundance of compartmentalized pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subunits, leading to their subsequent proteolysis (PubMed:12420224, PubMed:21423175). Phosphorylates GPKOW which regulates its ability to bind RNA (PubMed:21880142). Asn-3 is partially deaminated to Asp giving rise to 2 major isoelectric variants, called CB and CA respectively. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. cAMP subfamily. MAPK signaling pathway;Calcium signaling pathway;Chemokine signaling pathway;Oocyte meiosis;Apoptosis;Vascular smooth muscle contraction;Wnt signaling pathway;Hedgehog signaling pathway;Gap junction;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Olfactory transduction;Taste transduction;Insulin signaling pathway;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;MAPK6/MAPK4 signaling;Factors involved in megakaryocyte development and platelet production;VEGFA-VEGFR2 Pathway;Triglyceride catabolism;Hedgehog 'off' state;PKA activation;PKA activation in glucagon signalling;DARPP-32 events;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;CD209 (DC-SIGN) signaling;Regulation of insulin secretion;PKA-mediated phosphorylation of CREB;PKA-mediated phosphorylation of key metabolic factors;Rap1 signalling;CREB1 phosphorylation through the activation of Adenylate Cyclase;RET signaling;HDL assembly;ROBO receptors bind AKAP5;Regulation of glycolysis by fructose 2,6-bisphosphate metabolism PE1 1 +NX_P22695 Cytochrome b-c1 complex subunit 2, mitochondrial 453 48443 8.74 0 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex III deficiency, nuclear 5 This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. The core protein 2 is required for the assembly of the complex. NA Belongs to the peptidase M16 family. UQCRC2/QCR2 subfamily. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport PE1 16 +NX_P22732 Solute carrier family 2, facilitated glucose transporter member 5 501 54974 5.81 12 Apical cell membrane;Sarcolemma;Cell membrane NA Functions as a fructose transporter that has only low activity with other monosaccharides (PubMed:8333543, PubMed:16186102, PubMed:28083649). Can mediate the uptake of 2-deoxyglucose, but with low efficiency (PubMed:1695905). Essential for fructose uptake in the small intestine (By similarity). Plays a role in the regulation of salt uptake and blood pressure in response to dietary fructose (By similarity). Required for the development of high blood pressure in response to high dietary fructose intake (By similarity). NA Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. Carbohydrate digestion and absorption;Neutrophil degranulation;Intestinal hexose absorption PE1 1 +NX_P22735 Protein-glutamine gamma-glutamyltransferase K 817 89787 5.68 0 Membrane Ichthyosis, congenital, autosomal recessive 1 Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Responsible for cross-linking epidermal proteins during formation of the stratum corneum. Involved in cell proliferation (PubMed:26220141). Tyrosine-phosphorylated.;Palmitoylated.;The membrane anchorage region possesses a cluster of five cysteines within which fatty acid(s) may become thioester-linked. It is subject to phorbol ester-stimulated phosphorylation and is hypersensitive to proteolysis, which releases the enzyme in a soluble form. Belongs to the transglutaminase superfamily. Transglutaminase family. Formation of the cornified envelope PE1 14 +NX_P22736 Nuclear receptor subfamily 4 group A member 1 598 64463 6.82 0 Cytoplasm;Mitochondrion;Nucleus membrane;Nucleoplasm;Cytosol;Nucleus NA Orphan nuclear receptor. May act concomitantly with NURR1 in regulating the expression of delayed-early genes during liver regeneration. Binds the NGFI-B response element (NBRE) 5'-AAAAGGTCA-3' (By similarity). May inhibit NF-kappa-B transactivation of IL2. Participates in energy homeostasis by sequestrating the kinase STK11 in the nucleus, thereby attenuating cytoplasmic AMPK activation. Plays a role in the vascular response to injury (By similarity). Acetylated by p300/CBP, acetylation increases stability. Deacetylated by HDAC1.;Phosphorylated at Ser-351 by RPS6KA1 and RPS6KA3 in response to mitogenic or stress stimuli.;NR4A1 is phosphorylated by MAPK7 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the nuclear hormone receptor family. NR4 subfamily. MAPK signaling pathway;Nuclear Receptor transcription pathway;AKT phosphorylates targets in the nucleus;Constitutive Signaling by AKT1 E17K in Cancer PE1 12 +NX_P22748 Carbonic anhydrase 4 312 35032 7.68 0 Cytoplasmic vesicle;Cell membrane Retinitis pigmentosa 17 Reversible hydration of carbon dioxide. May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis. It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid. NA Belongs to the alpha-carbonic anhydrase family. Nitrogen metabolism;Proximal tubule bicarbonate reclamation;Reversible hydration of carbon dioxide;Erythrocytes take up carbon dioxide and release oxygen;Erythrocytes take up oxygen and release carbon dioxide PE1 17 +NX_P22749 Granulysin 145 16374 9.39 0 Secreted NA Antimicrobial protein that kills intracellular pathogens. Active against a broad range of microbes, including Gram-positive and Gram-negative bacteria, fungi, and parasites. Kills Mycobacterium tuberculosis. A 9 kDa form is produced by proteolytic processing of a 15 kDa protein. NA Antimicrobial peptides PE1 2 +NX_P22760 Arylacetamide deacetylase 399 45734 8.75 1 Microsome membrane;Endoplasmic reticulum membrane NA Displays cellular triglyceride lipase activity in liver, increases the levels of intracellular fatty acids derived from the hydrolysis of newly formed triglyceride stores and plays a role in very low-density lipoprotein assembly. Displays serine esterase activity in liver. Deacetylates a variety of arylacetamide substrates, including xenobiotic compounds and procarcinogens, converting them to the primary arylamide compounds and increasing their toxicity. Glycosylation is required for enzyme activity. Belongs to the 'GDXG' lipolytic enzyme family. Phase I - Functionalization of compounds PE1 3 +NX_P22792 Carboxypeptidase N subunit 2 545 60557 5.63 0 Secreted NA The 83 kDa subunit binds and stabilizes the catalytic subunit at 37 degrees Celsius and keeps it in circulation. Under some circumstances it may be an allosteric modifier of the catalytic subunit. Whether or not any Cys residues participate in intrachain bonds is unknown, but they do not form interchain disulfide bonds with the 50 kDa catalytic subunit. NA Regulation of Complement cascade PE1 3 +NX_P22794 Protein EVI2A 236 26213 8.73 1 Membrane;Nucleoplasm;Nucleus NA May complex with itself or/and other proteins within the membrane, to function as part of a cell-surface receptor. NA Belongs to the EVI2A family. NA PE1 17 +NX_P22830 Ferrochelatase, mitochondrial 423 47862 8.96 0 Mitochondrion inner membrane Protoporphyria, erythropoietic, 1 Catalyzes the ferrous insertion into protoporphyrin IX. NA Belongs to the ferrochelatase family. Porphyrin-containing compound metabolism; protoheme biosynthesis; protoheme from protoporphyrin-IX: step 1/1.;Porphyrin and chlorophyll metabolism;Metabolic pathways;Heme biosynthesis PE1 18 +NX_P22888 Lutropin-choriogonadotropic hormone receptor 699 78643 8.82 7 Cell membrane Luteinizing hormone resistance;Familial male precocious puberty Receptor for lutropin-choriogonadotropic hormone (PubMed:11847099). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099). Sulfated. Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Hormone ligand-binding receptors PE1 2 +NX_P22891 Vitamin K-dependent protein Z 400 44744 5.64 0 Secreted NA Appears to assist hemostasis by binding thrombin and promoting its association with phospholipid vesicles. Inhibits activity of the coagulation protease factor Xa in the presence of SERPINA10, calcium and phospholipids. The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. Belongs to the peptidase S1 family. Gamma-carboxylation of protein precursors;Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus;Removal of aminoterminal propeptides from gamma-carboxylated proteins PE1 13 +NX_P22894 Neutrophil collagenase 467 53412 6.38 0 Cytoplasmic granule;Extracellular matrix NA Can degrade fibrillar type I, II, and III collagens. NA Belongs to the peptidase M10A family. Degradation of the extracellular matrix;Collagen degradation;Activation of Matrix Metalloproteinases;Neutrophil degranulation PE1 11 +NX_P22897 Macrophage mannose receptor 1 1456 166012 6.11 1 Endosome membrane;Cell membrane NA Mediates the endocytosis of glycoproteins by macrophages. Binds both sulfated and non-sulfated polysaccharide chains.;(Microbial infection) Acts as phagocytic receptor for bacteria, fungi and other pathogens.;(Microbial infection) Acts as a receptor for Dengue virus envelope protein E.;(Microbial infection) Interacts with Hepatitis B virus envelope protein. NA NA Phagosome;Tuberculosis;Cross-presentation of soluble exogenous antigens (endosomes) PE1 10 +NX_P22914 Gamma-crystallin S 178 21007 6.44 0 Cytosol Cataract 20, multiple types Crystallins are the dominant structural components of the vertebrate eye lens. NA Belongs to the beta/gamma-crystallin family. NA PE1 3 +NX_P23025 DNA repair protein complementing XP-A cells 273 31368 6.29 0 Nucleoplasm;Nucleus;Cytoskeleton Xeroderma pigmentosum complementation group A Involved in DNA excision repair. Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHEK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation. ATR-dependent phosphorylation of XPA at Ser-196 is important for cell survival in response to UV damage.;Ubiquitinated by HERC2 leading to degradation by the proteasome.;XPA is phosphorylated by ATR (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the XPA family. Formation of TC-NER Pre-Incision Complex;Dual incision in TC-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER PE1 9 +NX_P23083 Immunoglobulin heavy variable 1-2 117 13085 9.23 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 14 +NX_P23109 AMP deaminase 1 780 90219 6.53 0 NA Myopathy due to myoadenylate deaminase deficiency AMP deaminase plays a critical role in energy metabolism. NA Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family. Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1.;Purine metabolism;Metabolic pathways;Purine salvage PE1 1 +NX_P23141 Liver carboxylesterase 1 567 62521 6.15 0 Endoplasmic reticulum;Endoplasmic reticulum lumen NA Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Hydrolyzes aromatic and aliphatic esters, but has no catalytic activity toward amides or a fatty acyl-CoA ester. Hydrolyzes the methyl ester group of cocaine to form benzoylecgonine. Catalyzes the transesterification of cocaine to form cocaethylene. Displays fatty acid ethyl ester synthase activity, catalyzing the ethyl esterification of oleic acid to ethyloleate. Contains sialic acid.;Cleavage of the signal sequence can occur at 2 positions, either between Trp-17 and Gly-18 or between Gly-18 and His-19. Belongs to the type-B carboxylesterase/lipase family. Drug metabolism - other enzymes;Metabolic pathways;Metabolism of Angiotensinogen to Angiotensins;Phase I - Functionalization of compounds PE1 16 +NX_P23142 Fibulin-1 703 77214 5.07 0 Endoplasmic reticulum;Extracellular matrix NA Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental processes and contribute to the supramolecular organization of ECM architecture, in particular to those of basement membranes. Has been implicated in a role in cellular transformation and tumor invasion, it appears to be a tumor suppressor. May play a role in haemostasis and thrombosis owing to its ability to bind fibrinogen and incorporate into clots. Could play a significant role in modulating the neurotrophic activities of APP, particularly soluble APP. NA Belongs to the fibulin family. Molecules associated with elastic fibres PE1 22 +NX_P23193 Transcription elongation factor A protein 1 301 33970 8.65 0 Nucleoplasm;Nucleolus;Nucleus NA Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3'-terminus. NA Belongs to the TFS-II family. Formation of RNA Pol II elongation complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;TP53 Regulates Transcription of DNA Repair Genes PE1 8 +NX_P23219 Prostaglandin G/H synthase 1 599 68686 6.81 0 Microsome membrane;Cytoplasmic vesicle;Golgi apparatus;Endoplasmic reticulum membrane NA Converts arachidonate to prostaglandin H2 (PGH2), a committed step in prostanoid synthesis. Involved in the constitutive production of prostanoids in particular in the stomach and platelets. In gastric epithelial cells, it is a key step in the generation of prostaglandins, such as prostaglandin E2 (PGE2), which plays an important role in cytoprotection. In platelets, it is involved in the generation of thromboxane A2 (TXA2), which promotes platelet activation and aggregation, vasoconstriction and proliferation of vascular smooth muscle cells. NA Belongs to the prostaglandin G/H synthase family. Lipid metabolism; prostaglandin biosynthesis.;Arachidonic acid metabolism;Metabolic pathways;Synthesis of Prostaglandins (PG) and Thromboxanes (TX);COX reactions PE1 9 +NX_P23229 Integrin alpha-6 1130 126606 6.21 1 Cell membrane Epidermolysis bullosa letalis, with pyloric atresia Integrin alpha-6/beta-1 (ITGA6:ITGB1) is a receptor for laminin on platelets (By similarity). Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion (By similarity). Integrin alpha-6/beta-4 (ITGA6:ITGB4) is a receptor for laminin in epithelial cells and it plays a critical structural role in the hemidesmosome (By similarity). ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760). ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). Palmitoylation by DHHC3 enhances stability and cell surface expression.;Isoforms containing segment A, but not segment B, are the major targets for PMA-induced phosphorylation. Phosphorylation occurs on 'Ser-1103' of isoform alpha-6X1X2A. Phosphorylation is not required for the induction of integrin alpha-6A/beta-1 high affinity but may reduce the affinity for ligand.;Undergoes PLAU-mediated cleavage at residues Arg-634-635-Arg in a time-dependent manner to produce processed integrin alpha-6 (alpha6p) (PubMed:11359780, PubMed:15023541, PubMed:17303120). Production of alpha6p enhances prostate cancer cell invasion and migration (PubMed:17303120). Belongs to the integrin alpha chain family. Focal adhesion;ECM-receptor interaction;Cell adhesion molecules (CAMs);Hematopoietic cell lineage;Regulation of actin cytoskeleton;Toxoplasmosis;Pathways in cancer;Small cell lung cancer;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Syndecan interactions;Integrin cell surface interactions;Basigin interactions;Assembly of collagen fibrils and other multimeric structures;Type I hemidesmosome assembly;Laminin interactions PE1 2 +NX_P23246 Splicing factor, proline- and glutamine-rich 707 76149 9.45 0 Nucleoplasm;Nucleus matrix;Cytoplasm;Nucleus speckle NA DNA- and RNA binding protein, involved in several nuclear processes. Essential pre-mRNA splicing factor required early in spliceosome formation and for splicing catalytic step II, probably as a heteromer with NONO. Binds to pre-mRNA in spliceosome C complex, and specifically binds to intronic polypyrimidine tracts. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45, a phosphorylated form is sequestered by THRAP3 from the pre-mRNA in resting T-cells; T-cell activation and subsequent reduced phosphorylation is proposed to lead to release from THRAP3 allowing binding to pre-mRNA splicing regulatotry elements which represses exon inclusion. Interacts with U5 snRNA, probably by binding to a purine-rich sequence located on the 3' side of U5 snRNA stem 1b. May be involved in a pre-mRNA coupled splicing and polyadenylation process as component of a snRNP-free complex with SNRPA/U1A. The SFPQ-NONO heteromer associated with MATR3 may play a role in nuclear retention of defective RNAs. SFPQ may be involved in homologous DNA pairing; in vitro, promotes the invasion of ssDNA between a duplex DNA and produces a D-loop formation. The SFPQ-NONO heteromer may be involved in DNA unwinding by modulating the function of topoisomerase I/TOP1; in vitro, stimulates dissociation of TOP1 from DNA after cleavage and enhances its jumping between separate DNA helices. The SFPQ-NONO heteromer binds DNA (PubMed:25765647). The SFPQ-NONO heteromer may be involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination and may stabilize paired DNA ends; in vitro, the complex strongly stimulates DNA end joining, binds directly to the DNA substrates and cooperates with the Ku70/G22P1-Ku80/XRCC5 (Ku) dimer to establish a functional preligation complex. SFPQ is involved in transcriptional regulation. Functions as transcriptional activator (PubMed:25765647). Transcriptional repression is mediated by an interaction of SFPQ with SIN3A and subsequent recruitment of histone deacetylases (HDACs). The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. SFPQ isoform Long binds to the DNA binding domains (DBD) of nuclear hormone receptors, like RXRA and probably THRA, and acts as transcriptional corepressor in absence of hormone ligands. Binds the DNA sequence 5'-CTGAGTC-3' in the insulin-like growth factor response element (IGFRE) and inhibits IGF-I-stimulated transcriptional activity. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex through histone deacetylation (By similarity). Required for the assembly of nuclear speckles (PubMed:25765647). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728). The N-terminus is blocked.;Phosphorylated on multiple serine and threonine residues during apoptosis. In vitro phosphorylated by PKC. Phosphorylation stimulates binding to DNA and D-loop formation, but inhibits binding to RNA. Phosphorylation of C-terminal tyrosines promotes its cytoplasmic localization, impaired its binding to polypyrimidine RNA and led to cell cycle arrest. In resting T-cells is phosphorylated at Thr-687 by GSK3B which is proposed to promote association with THRAP and to prevent binding to PTPRC/CD45 pre-mRNA; T-cell activation leads to reduced phosphorylation at Thr-687.;SFPQ is phosphorylated by PTK6 (Phosphotyrosine:PTM-0255) NA PTK6 Regulates Proteins Involved in RNA Processing PE1 1 +NX_P23258 Tubulin gamma-1 chain 451 51170 5.75 0 Centrosome Cortical dysplasia, complex, with other brain malformations 4 Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta chain minus-end nucleation, centrosome duplication and spindle formation. Phosphorylation at Ser-131 by BRSK1 regulates centrosome duplication, possibly by mediating relocation of gamma-tubulin and its associated proteins from the cytoplasm to the centrosome. Belongs to the tubulin family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 17 +NX_P23276 Kell blood group glycoprotein 732 82824 8.09 1 Nucleoplasm;Cytosol;Cell membrane NA Zinc endopeptidase with endothelin-3-converting enzyme activity. Cleaves EDN1, EDN2 and EDN3, with a marked preference for EDN3. N-glycosylated. Belongs to the peptidase M13 family. Peptide ligand-binding receptors PE1 7 +NX_P23280 Carbonic anhydrase 6 308 35367 6.51 0 Secreted NA Reversible hydration of carbon dioxide. Its role in saliva is unknown. NA Belongs to the alpha-carbonic anhydrase family. Nitrogen metabolism;Reversible hydration of carbon dioxide PE1 1 +NX_P23284 Peptidyl-prolyl cis-trans isomerase B 216 23743 9.42 0 Endoplasmic reticulum;Nucleoplasm;Endoplasmic reticulum lumen;Melanosome Osteogenesis imperfecta 9 PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. NA Belongs to the cyclophilin-type PPIase family. PPIase B subfamily. Collagen biosynthesis and modifying enzymes PE1 15 +NX_P23297 Protein S100-A1 94 10546 4.39 0 Cytoplasm NA Probably acts as a Ca(2+) signal transducer (PubMed:22399290). In response to an increase in intracellular Ca(2+) levels, binds calcium which triggers a conformational change (PubMed:23351007). This conformational change allows interaction of S1001A with specific target proteins, such as TPR-containing proteins, and the modulation of their activity (PubMed:22399290). NA Belongs to the S-100 family. Regulation of TLR by endogenous ligand PE1 1 +NX_P23327 Sarcoplasmic reticulum histidine-rich calcium-binding protein 699 80244 4.62 0 Sarcoplasmic reticulum lumen NA May play a role in the regulation of calcium sequestration or release in the SR of skeletal and cardiac muscle. NA Belongs to the HRC family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 19 +NX_P23352 Anosmin-1 680 76112 9.33 0 Secreted;Cell membrane Hypogonadotropic hypogonadism 1 with or without anosmia Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of mitral and tufted cell collaterals to the olfactory cortex (By similarity). Chemoattractant for fetal olfactory epithelial cells. N-glycosylated.;May be proteolytically cleaved at the cell surface and released from the cell surface. NA FGFR1c ligand binding and activation;Negative regulation of FGFR1 signaling PE1 X +NX_P23368 NAD-dependent malic enzyme, mitochondrial 584 65444 7.52 0 Mitochondrion matrix;Mitochondrion NA NA NA Belongs to the malic enzymes family. Pyruvate metabolism;Citric acid cycle (TCA cycle) PE1 18 +NX_P23378 Glycine dehydrogenase (decarboxylating), mitochondrial 1020 112730 6.68 0 Nucleoplasm;Mitochondrion Non-ketotic hyperglycinemia The glycine cleavage system catalyzes the degradation of glycine. The P protein (GLDC) binds the alpha-amino group of glycine through its pyridoxal phosphate cofactor; CO(2) is released and the remaining methylamine moiety is then transferred to the lipoamide cofactor of the H protein (GCSH). NA Belongs to the GcvP family. Glycine, serine and threonine metabolism;Metabolic pathways;Glycine degradation PE1 9 +NX_P23381 Tryptophan--tRNA ligase, cytoplasmic 471 53165 5.83 0 Cytoplasm;Cytosol Neuronopathy, distal hereditary motor, 9 T1-TrpRS have aminoacylation activity while T2-TrpRS lacks it.;T1-TrpRS and T2-TrpRS possess angiostatic activity whereas isoform 1 lacks it. T2-TrpRS inhibits fluid shear stress-activated responses of endothelial cells. Regulates ERK, Akt, and eNOS activation pathways that are associated with angiogenesis, cytoskeletal reorganization and shear stress-responsive gene expression. Proteolytic cleavage generates 2 forms; T1-TrpRS and T2-TrpRS. Belongs to the class-I aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Cytosolic tRNA aminoacylation PE1 14 +NX_P23396 40S ribosomal protein S3 243 26688 9.68 0 Cytoplasm;Nucleolus;Endoplasmic reticulum;Spindle;Cytosol;Mitochondrion inner membrane;Nucleus NA Involved in translation as a component of the 40S small ribosomal subunit (PubMed:8706699). Has endonuclease activity and plays a role in repair of damaged DNA (PubMed:7775413). Cleaves phosphodiester bonds of DNAs containing altered bases with broad specificity and cleaves supercoiled DNA more efficiently than relaxed DNA (PubMed:15707971). Displays high binding affinity for 7,8-dihydro-8-oxoguanine (8-oxoG), a common DNA lesion caused by reactive oxygen species (ROS) (PubMed:14706345). Has also been shown to bind with similar affinity to intact and damaged DNA (PubMed:18610840). Stimulates the N-glycosylase activity of the base excision protein OGG1 (PubMed:15518571). Enhances the uracil excision activity of UNG1 (PubMed:18973764). Also stimulates the cleavage of the phosphodiester backbone by APEX1 (PubMed:18973764). When located in the mitochondrion, reduces cellular ROS levels and mitochondrial DNA damage (PubMed:23911537). Has also been shown to negatively regulate DNA repair in cells exposed to hydrogen peroxide (PubMed:17049931). Plays a role in regulating transcription as part of the NF-kappa-B p65-p50 complex where it binds to the RELA/p65 subunit, enhances binding of the complex to DNA and promotes transcription of target genes (PubMed:18045535). Represses its own translation by binding to its cognate mRNA (PubMed:20217897). Binds to and protects TP53/p53 from MDM2-mediated ubiquitination (PubMed:19656744). Involved in spindle formation and chromosome movement during mitosis by regulating microtubule polymerization (PubMed:23131551). Involved in induction of apoptosis through its role in activation of CASP8 (PubMed:14988002). Induces neuronal apoptosis by interacting with the E2F1 transcription factor and acting synergistically with it to up-regulate pro-apoptotic proteins BCL2L11/BIM and HRK/Dp5 (PubMed:20605787). Interacts with TRADD following exposure to UV radiation and induces apoptosis by caspase-dependent JNK activation (PubMed:22510408). Sumoylation by SUMO1 enhances protein stability through increased resistance to proteolysis. Sumoylation occurs at one or more of the three consensus sites, Lys-18, Lys-214 and Lys-230.;Methylation by PRMT1 is required for import into the nucleolus and for ribosome assembly.;Ubiquitinated (PubMed:16314389). This is prevented by interaction with HSP90 which stabilizes the protein (PubMed:16314389). Monoubiquitinated at Lys-214 by ZNF598 when a ribosome has stalled during translation of poly(A) sequences, leading to preclude synthesis of a long poly-lysine tail and initiate the ribosome quality control (RQC) pathway to degrade the potentially detrimental aberrant nascent polypeptide (PubMed:28065601, PubMed:28132843).;Phosphorylation at Thr-221 by CDK1 occurs mainly in G2/M phase (PubMed:21871177). Phosphorylation by PRKCD occurs on a non-ribosomal-associated form which results in translocation of RPS3 to the nucleus and enhances its endonuclease activity (PubMed:19059439). Phosphorylated on Ser-209 by IKKB in response to activation of the NF-kappa-B p65-p50 complex which enhances the association of RPS3 with importin-alpha and mediates the nuclear translocation of RPS3 (PubMed:21399639). Phosphorylation by MAPK is required for translocation to the nucleus following exposure of cells to DNA damaging agents such as hydrogen peroxide (PubMed:17560175). Phosphorylation by PKB/AKT mediates RPS3 nuclear translocation, enhances RPS3 endonuclease activity and suppresses RPS3-induced neuronal apoptosis (PubMed:20605787).;RPS3 is phosphorylated by MAPK3 Belongs to the universal ribosomal protein uS3 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 11 +NX_P23409 Myogenic factor 6 242 26953 5.71 0 Nucleus NA Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein. NA NA Myogenesis PE1 12 +NX_P23415 Glycine receptor subunit alpha-1 457 52624 8.97 4 Postsynaptic cell membrane;Cell membrane;Perikaryon;Synapse;Dendrite Hyperekplexia 1 Glycine receptors are ligand-gated chloride channels (PubMed:23994010, PubMed:25730860). Channel opening is triggered by extracellular glycine (PubMed:2155780, PubMed:7920629, PubMed:14551753, PubMed:16144831, PubMed:22715885, PubMed:22973015, PubMed:25973519, PubMed:9009272). Channel opening is also triggered by taurine and beta-alanine (PubMed:16144831, PubMed:9009272). Channel characteristics depend on the subunit composition; heteropentameric channels are activated by lower glycine levels and display faster desensitization (PubMed:14551753). Plays an important role in the down-regulation of neuronal excitability (PubMed:8298642, PubMed:9009272). Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488). Channel activity is potentiated by ethanol (PubMed:25973519). Potentiation of channel activity by intoxicating levels of ethanol contribute to the sedative effects of ethanol (By similarity). NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA1 sub-subfamily. Neuroactive ligand-receptor interaction;Neurotransmitter receptors and postsynaptic signal transmission PE1 5 +NX_P23416 Glycine receptor subunit alpha-2 452 52002 9.06 4 Cell membrane;Cell projection;Synapse;Postsynaptic cell membrane NA Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed:2155780, PubMed:15302677, PubMed:16144831, PubMed:23895467, PubMed:25445488). Channel opening is also triggered by taurine and beta-alanine (PubMed:15302677). Plays a role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488). Plays a role in cellular responses to ethanol (PubMed:23895467). NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA2 sub-subfamily. Neuroactive ligand-receptor interaction;Neurotransmitter receptors and postsynaptic signal transmission PE1 X +NX_P23434 Glycine cleavage system H protein, mitochondrial 173 18885 4.91 0 Cytoplasmic vesicle;Mitochondrion Non-ketotic hyperglycinemia The glycine cleavage system catalyzes the degradation of glycine. The H protein (GCSH) shuttles the methylamine group of glycine from the P protein (GLDC) to the T protein (GCST). NA Belongs to the GcvH family. Glyoxylate metabolism and glycine degradation;Glycine degradation PE1 16 +NX_P23435 Cerebellin-1 193 21097 6.73 0 Secreted;Postsynaptic cell membrane NA The cerebellin peptide exerts neuromodulatory functions. Directly stimulates norepinephrine release via the adenylate cyclase/PKA-dependent signaling pathway; and indirectly enhances adrenocortical secretion in vivo, through a paracrine mechanism involving medullary catecholamine release (By similarity).;Required for synapse integrity and synaptic plasticity. During cerebellar synapse formation, essential for the matching and maintenance of pre- and post-synaptic elements at parallel fiber-Purkinje cell synapses, the establishment of the proper pattern of climbing fiber-Purkinje cell innervation, and induction of long-term depression at parallel fiber-Purkinje cell synapses. Plays a role as a synaptic organizer that acts bidirectionally on both pre- and post-synaptic components. On the one hand induces accumulation of synaptic vesicles in the pre-synaptic part by binding with NRXN1 and in other hand induces clustering of GRID2 and its associated proteins at the post-synaptic site through association of GRID2. NRXN1-CBLN1-GRID2 complex directly induces parallel fiber protrusions that encapsulate spines of Purkinje cells leading to accumulation of GRID2 and synaptic vesicles. Required for CBLN3 export from the endoplasmic reticulum and secretion (By similarity). NRXN1-CBLN1-GRID2 complex mediates the D-Serine-dependent long term depression signals and AMPA receptor endocytosis (PubMed:27418511). The proteolytic processing to yield cerebellin seems to occur either prior to the secretion by presynaptic neurons and subsequent oligomerization or in some other location after release of the mature protein. NA NA PE1 16 +NX_P23443 Ribosomal protein S6 kinase beta-1 525 59140 6.21 0 Mitochondrion outer membrane;Cytoplasm;Mitochondrion;Synaptosome;Nucleoplasm;Nucleus NA Serine/threonine-protein kinase that acts downstream of mTOR signaling in response to growth factors and nutrients to promote cell proliferation, cell growth and cell cycle progression. Regulates protein synthesis through phosphorylation of EIF4B, RPS6 and EEF2K, and contributes to cell survival by repressing the pro-apoptotic function of BAD. Under conditions of nutrient depletion, the inactive form associates with the EIF3 translation initiation complex. Upon mitogenic stimulation, phosphorylation by the mammalian target of rapamycin complex 1 (mTORC1) leads to dissociation from the EIF3 complex and activation. The active form then phosphorylates and activates several substrates in the pre-initiation complex, including the EIF2B complex and the cap-binding complex component EIF4B. Also controls translation initiation by phosphorylating a negative regulator of EIF4A, PDCD4, targeting it for ubiquitination and subsequent proteolysis. Promotes initiation of the pioneer round of protein synthesis by phosphorylating POLDIP3/SKAR. In response to IGF1, activates translation elongation by phosphorylating EEF2 kinase (EEF2K), which leads to its inhibition and thus activation of EEF2. Also plays a role in feedback regulation of mTORC2 by mTORC1 by phosphorylating RICTOR, resulting in the inhibition of mTORC2 and AKT1 signaling. Mediates cell survival by phosphorylating the pro-apoptotic protein BAD and suppressing its pro-apoptotic function. Phosphorylates mitochondrial URI1 leading to dissociation of a URI1-PPP1CC complex. The free mitochondrial PPP1CC can then dephosphorylate RPS6KB1 at Thr-412, which is proposed to be a negative feedback mechanism for the RPS6KB1 anti-apoptotic function. Mediates TNF-alpha-induced insulin resistance by phosphorylating IRS1 at multiple serine residues, resulting in accelerated degradation of IRS1. In cells lacking functional TSC1-2 complex, constitutively phosphorylates and inhibits GSK3B. May be involved in cytoskeletal rearrangement through binding to neurabin. Phosphorylates and activates the pyrimidine biosynthesis enzyme CAD, downstream of MTOR (PubMed:11500364, PubMed:12801526, PubMed:14673156, PubMed:15071500, PubMed:15341740, PubMed:16286006, PubMed:17052453, PubMed:17053147, PubMed:17936702, PubMed:18952604, PubMed:19085255, PubMed:19720745, PubMed:19935711, PubMed:19995915, PubMed:23429703). Following activation by mTORC1, phosphorylates EPRS and thereby plays a key role in fatty acid uptake by adipocytes and also most probably in interferon-gamma-induced translation inhibition (PubMed:28178239). Phosphorylation at Thr-412 is regulated by mTORC1. The phosphorylation at this site is maintained by an agonist-dependent autophosphorylation mechanism (By similarity). Activated by phosphorylation at Thr-252 by PDPK1. Dephosphorylation by PPP1CC at Thr-412 in mitochondrion.;RPS6KB1 is phosphorylated by PRKCZ (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily. ErbB signaling pathway;mTOR signaling pathway;TGF-beta signaling pathway;Fc gamma R-mediated phagocytosis;Insulin signaling pathway;Acute myeloid leukemia;mTORC1-mediated signalling PE1 17 +NX_P23458 Tyrosine-protein kinase JAK1 1154 133277 7.48 0 Endomembrane system NA Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway (PubMed:7615558). Kinase partner for the interleukin (IL)-2 receptor (PubMed:11909529) as well as interleukin (IL)-10 receptor (PubMed:12133952). Ubiquitinated by RNF125; leading to its degradation by the proteasome.;Autophosphorylated (PubMed:7615558). Phosphorylated on tyrosine residues in response to interferon gamma signaling (PubMed:7615558). Dephosphorylation of Tyr-1034 and Tyr-1035 by PTPN2 negatively regulates cytokine-mediated signaling (PubMed:11909529). Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily. Osteoclast differentiation;Jak-STAT signaling pathway;Leishmaniasis;Toxoplasmosis;Tuberculosis;Hepatitis C;Measles;Influenza A;HTLV-I infection;Herpes simplex infection;Pathways in cancer;Pancreatic cancer;ISG15 antiviral mechanism;RAF/MAP kinase cascade;Interferon gamma signaling;Interferon alpha/beta signaling;Interleukin-7 signaling;Interleukin receptor SHC signaling;Regulation of IFNA signaling;MAPK3 (ERK1) activation;Regulation of IFNG signaling;Interleukin-6 signaling;MAPK1 (ERK2) activation;Interleukin-20 family signaling;IL-6-type cytokine receptor ligand interactions;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling;Other interleukin signaling;Interleukin-15 signaling;Interleukin-35 Signalling;Interleukin-9 signaling;Interleukin-12 signaling;Interleukin-2 signaling;Interleukin-21 signaling;Interleukin-27 signaling PE1 1 +NX_P23467 Receptor-type tyrosine-protein phosphatase beta 1997 224301 7.44 1 Membrane;Cytoplasmic vesicle;Cell junction;Cell membrane NA Plays an important role in blood vessel remodeling and angiogenesis. Not necessary for the initial formation of blood vessels, but is essential for their maintenance and remodeling. Can induce dephosphorylation of TEK/TIE2, CDH5/VE-cadherin and KDR/VEGFR-2. Regulates angiopoietin-TIE2 signaling in endothelial cells. Acts as a negative regulator of TIE2, and controls TIE2 driven endothelial cell proliferation, which in turn affects blood vessel remodeling during embryonic development and determines blood vessel size during perinatal growth. Essential for the maintenance of endothelial cell contact integrity and for the adhesive function of VE-cadherin in endothelial cells and this requires the presence of plakoglobin (By similarity). NA Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily. Adherens junction;Neutrophil degranulation PE1 12 +NX_P23468 Receptor-type tyrosine-protein phosphatase delta 1912 214760 6.14 1 Membrane;Nucleoplasm;Cytoplasmic vesicle NA Can bidirectionally induce pre- and post-synaptic differentiation of neurons by mediating interaction with IL1RAP and IL1RAPL1 trans-synaptically. Involved in pre-synaptic differentiation through interaction with SLITRK2. A cleavage occurs, separating the extracellular domain from the transmembrane segment. This process called 'ectodomain shedding' is thought to be involved in receptor desensitization, signal transduction and/or membrane localization. Belongs to the protein-tyrosine phosphatase family. Receptor class 2A subfamily. Synaptic adhesion-like molecules;Receptor-type tyrosine-protein phosphatases PE1 9 +NX_P23469 Receptor-type tyrosine-protein phosphatase epsilon 700 80642 6.57 1 Cytoplasm;Cytoskeleton;Cell membrane NA Plays a critical role in signaling transduction pathways and phosphoprotein network topology in red blood cells. May play a role in osteoclast formation and function (By similarity).;Acts as a negative regulator of insulin receptor (IR) signaling in skeletal muscle. Regulates insulin-induced tyrosine phosphorylation of insulin receptor (IR) and insulin receptor substrate 1 (IRS-1), phosphorylation of protein kinase B and glycogen synthase kinase-3 and insulin induced stimulation of glucose uptake (By similarity).;Act as a negative regulator of FceRI-mediated signal transduction leading to cytokine production and degranulation, most likely by acting at the level of SYK to affect downstream events such as phosphorylation of SLP76 and LAT and mobilization of Ca(2+). Is glycosylated.;Are phosphorylated on tyrosine residues by tyrosine kinase Neu.;A catalytically active cytoplasmic form (p65) is produced by proteolytic cleavage of either isoform 1, isoform 2 or isoform 3. Belongs to the protein-tyrosine phosphatase family. Receptor class 4 subfamily. NA PE1 10 +NX_P23470 Receptor-type tyrosine-protein phosphatase gamma 1445 162003 5.99 1 Membrane;Cell membrane NA Possesses tyrosine phosphatase activity. NA Belongs to the protein-tyrosine phosphatase family. Receptor class 5 subfamily. NA PE1 3 +NX_P23471 Receptor-type tyrosine-protein phosphatase zeta 2315 254587 4.76 1 Cytoplasmic vesicle;Cytosol;Secreted;Cell membrane NA Protein tyrosine phosphatase that negatively regulates oligodendrocyte precursor proliferation in the embryonic spinal cord. Required for normal differentiation of the precursor cells into mature, fully myelinating oligodendrocytes. May play a role in protecting oligondendrocytes against apoptosis. May play a role in the establishment of contextual memory, probably via the dephosphorylation of proteins that are part of important signaling cascades (By similarity). NA Belongs to the protein-tyrosine phosphatase family. Receptor class 5 subfamily. Epithelial cell signaling in Helicobacter pylori infection;Other interleukin signaling PE1 7 +NX_P23490 Loricrin 312 25761 8.5 0 Nucleoplasm;Cytoplasm Vohwinkel syndrome with ichthyosis Major keratinocyte cell envelope protein. Substrate of transglutaminases. Some glutamines and lysines are cross-linked to other loricrin molecules and to SPRRs proteins.;Contains inter- or intramolecular disulfide-bonds. NA Formation of the cornified envelope PE1 1 +NX_P23497 Nuclear autoantigen Sp-100 879 100417 8.49 0 Nucleoplasm;Nucleus;Cytoplasm;PML body NA Together with PML, this tumor suppressor is a major constituent of the PML bodies, a subnuclear organelle involved in a large number of physiological processes including cell growth, differentiation and apoptosis. Functions as a transcriptional coactivator of ETS1 and ETS2 according to PubMed:11909962. Under certain conditions, it may also act as a corepressor of ETS1 preventing its binding to DNA according to PubMed:15247905. Through the regulation of ETS1 it may play a role in angiogenesis, controlling endothelial cell motility and invasion. Through interaction with the MRN complex it may be involved in the regulation of telomeres lengthening. May also regulate TP53-mediated transcription and through CASP8AP2, regulate FAS-mediated apoptosis. Also plays a role in infection by viruses, including human cytomegalovirus and Epstein-Barr virus, through mechanisms that may involve chromatin and/or transcriptional regulation. Sumoylated. Sumoylation depends on a functional nuclear localization signal but is not necessary for nuclear import or nuclear body targeting.;Sumoylated. Sumoylated with SUMO1. Sumoylation depends on a functional nuclear localization signal but is not necessary for nuclear import or nuclear body targeting. Sumoylation may stabilize the interaction with CBX5. NA Herpes simplex infection;SUMOylation of DNA damage response and repair proteins;Interferon gamma signaling PE1 2 +NX_P23508 Colorectal mutant cancer protein 829 93027 5.4 0 Cytoplasm;Cell membrane;Nucleoplasm;Lamellipodium;Cytosol;Nucleus NA Candidate for the putative colorectal tumor suppressor gene located at 5q21. Suppresses cell proliferation and the Wnt/b-catenin pathway in colorectal cancer cells. Inhibits DNA binding of b-catenin/TCF/LEF transcription factors. Involved in cell migration independently of RAC1, CDC42 and p21-activated kinase (PAK) activation (PubMed:18591935, PubMed:19555689, PubMed:22480440). Represses the beta-catenin pathway (canonical Wnt signaling pathway) in a CCAR2-dependent manner by sequestering CCAR2 to the cytoplasm, thereby impairing its ability to inhibit SIRT1 which is involved in the deacetylation and negative regulation of beta-catenin (CTNB1) transcriptional activity (PubMed:24824780). NA Belongs to the MCC family. NA PE1 5 +NX_P23510 Tumor necrosis factor ligand superfamily member 4 183 21050 6.95 1 Membrane;Nucleoplasm;Cytoplasmic vesicle Systemic lupus erythematosus Cytokine that binds to TNFRSF4. Co-stimulates T-cell proliferation and cytokine production. NA Belongs to the tumor necrosis factor family. Cytokine-cytokine receptor interaction;TNFs bind their physiological receptors PE1 1 +NX_P23511 Nuclear transcription factor Y subunit alpha 347 36877 8.89 0 Nucleoplasm;Nucleus NA Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5'-CCAAT-3' box motif found in the promoters of its target genes. NF-Y can function as both an activator and a repressor, depending on its interacting cofactors. NF-YA positively regulates the transcription of the core clock component ARNTL/BMAL1. NA Belongs to the NFYA/HAP2 subunit family. Antigen processing and presentation;Tuberculosis;PPARA activates gene expression;ATF4 activates genes in response to endoplasmic reticulum stress;Activation of gene expression by SREBF (SREBP);ATF6 (ATF6-alpha) activates chaperone genes;FOXO-mediated transcription of cell death genes PE1 6 +NX_P23515 Oligodendrocyte-myelin glycoprotein 440 49608 8.06 0 Cell membrane NA Cell adhesion molecule contributing to the interactive process required for myelination in the central nervous system. O-glycosylated in its Ser/Thr-rich repeat domain. NA Axonal growth inhibition (RHOA activation) PE1 17 +NX_P23526 Adenosylhomocysteinase 432 47716 5.92 0 Cytoplasm;Cytosol;Melanosome Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency Adenosylhomocysteine is a competitive inhibitor of S-adenosyl-L-methionine-dependent methyl transferase reactions; therefore adenosylhomocysteinase may play a key role in the control of methylations via regulation of the intracellular concentration of adenosylhomocysteine. NA Belongs to the adenosylhomocysteinase family. Amino-acid biosynthesis; L-homocysteine biosynthesis; L-homocysteine from S-adenosyl-L-homocysteine: step 1/1.;Cysteine and methionine metabolism;Metabolic pathways;Methylation;Sulfur amino acid metabolism;Defective AHCY causes Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD);Metabolism of ingested SeMet, Sec, MeSec into H2Se PE1 20 +NX_P23527 Histone H2B type 1-O 126 13906 10.31 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes (By similarity).;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons.;Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination. Belongs to the histone H2B family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;G2/M DNA damage checkpoint;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Ub-specific processing proteases;E3 ubiquitin ligases ubiquitinate target proteins;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 6 +NX_P23528 Cofilin-1 166 18502 8.22 0 Nucleus matrix;Lamellipodium membrane;Lamellipodium;Ruffle membrane;Cytoskeleton NA Binds to F-actin and exhibits pH-sensitive F-actin depolymerizing activity. Regulates actin cytoskeleton dynamics. Important for normal progress through mitosis and normal cytokinesis. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required for the up-regulation of atypical chemokine receptor ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation (PubMed:11812157, PubMed:15580268, PubMed:21834987, PubMed:23633677). Required for neural tube morphogenesis and neural crest cell migration (By similarity). Inactivated by phosphorylation on Ser-3. Phosphorylated on Ser-3 in resting cells (By similarity). Dephosphorylated by PDXP/chronophin; this restores its activity in promoting actin filament depolymerization. The phosphorylation of Ser-24 may prevent recognition of the nuclear localization signal (By similarity). Phosphorylated via a ARRB1-RAC1-LIMK1-PAK1 cascade upon active ligand stimulation of atypical chemokine receptor ACKR2. Belongs to the actin-binding proteins ADF family. Axon guidance;Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Pertussis;Regulation of actin dynamics for phagocytic cup formation;EPHB-mediated forward signaling;Platelet degranulation;Sema3A PAK dependent Axon repulsion;RHO GTPases Activate ROCKs;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 11 +NX_P23560 Brain-derived neurotrophic factor 247 27818 9.01 0 Nucleus speckle;Mitochondrion;Secreted Congenital central hypoventilation syndrome BDNF precursor form: Important signaling molecule that activates signaling cascades downstream of NTRK2. Activates signaling cascades via the heterodimeric receptor formed by NGFR and SORCS2 (PubMed:24908487, PubMed:29909994). Signaling via NGFR and SORCS2 plays a role in synaptic plasticity and long-term depression (LTD). Binding to NGFR and SORCS2 promotes neuronal apoptosis. Promotes neuronal growth cone collapse (By similarity).;Important signaling molecule that activates signaling cascades downstream of NTRK2 (PubMed:11152678). During development, promotes the survival and differentiation of selected neuronal populations of the peripheral and central nervous systems. Participates in axonal growth, pathfinding and in the modulation of dendritic growth and morphology. Major regulator of synaptic transmission and plasticity at adult synapses in many regions of the CNS. The versatility of BDNF is emphasized by its contribution to a range of adaptive neuronal responses including long-term potentiation (LTP), long-term depression (LTD), certain forms of short-term synaptic plasticity, as well as homeostatic regulation of intrinsic neuronal excitability. BDNF precursor form: N-glycosylated and glycosulfated, contrary to mature BDNF.;Mature BDNF is produced by proteolytic removal of the propeptide, catalyzed by a FURIN family member. In addition, the precursor form is proteolytically cleaved within the propeptide, but this is not an obligatory intermediate for the production of mature BDNF (PubMed:11152678). Can be converted into mature BDNF by plasmin (PLG) (PubMed:19467646). Belongs to the NGF-beta family. MAPK signaling pathway;Neurotrophin signaling pathway;Huntington's disease;Activated NTRK2 signals through RAS;Activated NTRK2 signals through FRS2 and FRS3;Activated NTRK2 signals through CDK5;NTRK2 activates RAC1;Activated NTRK2 signals through PLCG1;Activated NTRK2 signals through PI3K;Activated NTRK2 signals through FYN;BDNF activates NTRK2 (TRKB) signaling;MECP2 regulates transcription of neuronal ligands PE1 11 +NX_P23582 C-type natriuretic peptide 126 13246 10.25 0 Secreted NA Hormone which plays a role in endochondral ossification through regulation of cartilaginous growth plate chondrocytes proliferation and differentiation. May also be vasoactive and natriuretic. Specifically binds and stimulates the cGMP production of the NPR2 receptor. Binds the clearance receptor NPR3 (By similarity). NA Belongs to the natriuretic peptide family. Physiological factors PE1 2 +NX_P23588 Eukaryotic translation initiation factor 4B 611 69151 5.55 0 Cytosol NA Required for the binding of mRNA to ribosomes. Functions in close association with EIF4-F and EIF4-A. Binds near the 5'-terminal cap of mRNA in presence of EIF-4F and ATP. Promotes the ATPase activity and the ATP-dependent RNA unwinding activity of both EIF4-A and EIF4-F. Phosphorylated at Ser-422 by RPS6KA1 and RPS6KB1; phosphorylation enhances the affinity of EIF4B for the EIF3 complex. NA RNA transport;mTOR signaling pathway;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Deadenylation of mRNA;mTORC1-mediated signalling;Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S PE1 12 +NX_P23610 40-kDa huntingtin-associated protein 371 39103 6.37 0 Cytoplasm;Early endosome;Nuclear body;Nucleus NA RAB5A effector molecule that is involved in vesicular trafficking of early endosomes (PubMed:16476778). Mediates the recruitment of HTT by RAB5A onto early endosomes. The HTT-F8A1/F8A2/F8A3-RAB5A complex stimulates early endosomal interaction with actin filaments and inhibits interaction with microtubules, leading to the reduction of endosome motility (PubMed:16476778). NA NA NA PE1 X +NX_P23634 Plasma membrane calcium-transporting ATPase 4 1241 137920 6.19 10 Flagellum membrane;Cell membrane NA Calcium/calmodulin-regulated and magnesium-dependent enzyme that catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell (PubMed:8530416). By regulating sperm cell calcium homeostasis, may play a role in sperm motility (By similarity). NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily. Calcium signaling pathway;Salivary secretion;Pancreatic secretion;Ion transport by P-type ATPases;Reduction of cytosolic Ca++ levels;Ion homeostasis PE1 1 +NX_P23677 Inositol-trisphosphate 3-kinase A 461 51009 7.59 0 Cytoplasmic vesicle NA NA NA Belongs to the inositol phosphokinase (IPK) family. Inositol phosphate metabolism;Metabolic pathways;Calcium signaling pathway;Phosphatidylinositol signaling system;Synthesis of IP3 and IP4 in the cytosol PE1 15 +NX_P23743 Diacylglycerol kinase alpha 735 82630 6.28 0 Cytoplasmic vesicle;Nucleoplasm;Mitochondrion NA Upon cell stimulation converts the second messenger diacylglycerol into phosphatidate, initiating the resynthesis of phosphatidylinositols and attenuating protein kinase C activity. NA Belongs to the eukaryotic diacylglycerol kinase family. Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Effects of PIP2 hydrolysis PE1 12 +NX_P23759 Paired box protein Pax-7 505 55119 9.1 0 Nucleus Rhabdomyosarcoma 2 Transcription factor playing a role in myogenesis through regulation of muscle precursor cells proliferation. NA Belongs to the paired homeobox family. NA PE1 1 +NX_P23760 Paired box protein Pax-3 479 52968 8.92 0 Nucleoplasm;Nucleus Waardenburg syndrome 1;Rhabdomyosarcoma 2;Craniofacial-deafness-hand syndrome;Waardenburg syndrome 3 Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 (PubMed:21965087). NA Belongs to the paired homeobox family. HATs acetylate histones PE1 2 +NX_P23763 Vesicle-associated membrane protein 1 118 12902 6.24 1 Mitochondrion outer membrane;Cytoplasmic vesicle membrane;Synaptic vesicle membrane;Synaptosome Spastic ataxia 1, autosomal dominant;Myasthenic syndrome, congenital, 25, presynaptic Involved in the targeting and/or fusion of transport vesicles to their target membrane. (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type X (BoNT/X) which probably hydrolyzes the 68-Arg-|-Ala-69 bond and inhibits neurotransmitter release (PubMed:29540745). It remains unknown whether BoNT/X is ever produced, or what organisms it targets.;(Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type F (BoNT/F, botF) which probably hydrolyzes the 60-Gln-|-Lys-61 bond and inhibits neurotransmitter release (PubMed:22289120).;(Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type D (BoNT/D, botD) which probably hydrolyzes the 61-Arg-|-Leu-62 bond and inhibits neurotransmitter release (PubMed:22289120). BoNT/D has low catalytic activity on this protein due to its sequence (PubMed:22289120). Note that humans are not known to be infected by C.botulinum type D.;(Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type B (BoNT/B, botB) which probably hydrolyzes the 78-Gln-|-Phe-79 bond and inhibits neurotransmitter release (PubMed:22289120). Belongs to the synaptobrevin family. SNARE interactions in vesicular transport;Toxicity of botulinum toxin type D (BoNT/D);Toxicity of botulinum toxin type F (BoNT/F);Toxicity of botulinum toxin type G (BoNT/G) PE1 12 +NX_P23769 Endothelial transcription factor GATA-2 480 50500 9.43 0 Nucleoplasm;Nucleus Myelodysplastic syndrome;Immunodeficiency 21;Lymphedema, primary, with myelodysplasia Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'. NA NA Factors involved in megakaryocyte development and platelet production;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Transcriptional regulation of granulopoiesis PE1 3 +NX_P23771 Trans-acting T-cell-specific transcription factor GATA-3 443 47916 9.52 0 Nucleoplasm;Nucleus Hypoparathyroidism, sensorineural deafness, and renal disease Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. Binds to the consensus sequence 5'-AGATAG-3'. Required for the T-helper 2 (Th2) differentiation process following immune and inflammatory responses. NA NA Factors involved in megakaryocyte development and platelet production;Ub-specific processing proteases;Interleukin-4 and Interleukin-13 signaling;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Estrogen-dependent gene expression PE1 10 +NX_P23786 Carnitine O-palmitoyltransferase 2, mitochondrial 658 73777 8.38 0 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion;Nucleolus Carnitine palmitoyltransferase 2 deficiency, lethal neonatal;Encephalopathy, acute, infection-induced, 4;Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced;Carnitine palmitoyltransferase 2 deficiency, infantile NA NA Belongs to the carnitine/choline acetyltransferase family. Lipid metabolism; fatty acid beta-oxidation.;Fatty acid metabolism;PPAR signaling pathway;PPARA activates gene expression;Import of palmitoyl-CoA into the mitochondrial matrix PE1 1 +NX_P23919 Thymidylate kinase 212 23819 8.4 0 Mitochondrion NA Catalyzes the conversion of dTMP to dTDP. NA Belongs to the thymidylate kinase family. Pyrimidine metabolism; dTTP biosynthesis.;Pyrimidine metabolism;Metabolic pathways;Interconversion of nucleotide di- and triphosphates PE1 2 +NX_P23921 Ribonucleoside-diphosphate reductase large subunit 792 90070 6.76 0 Cytoplasm;Cytosol NA Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides. NA Belongs to the ribonucleoside diphosphate reductase large chain family. Genetic information processing; DNA replication.;Purine metabolism;Pyrimidine metabolism;Glutathione metabolism;Metabolic pathways;Interconversion of nucleotide di- and triphosphates PE1 11 +NX_P23942 Peripherin-2 346 39186 8.5 4 Membrane;Photoreceptor outer segment;Photoreceptor inner segment Macular dystrophy, vitelliform, 3;Retinitis pigmentosa 7;Macular dystrophy, patterned, 1;Choroidal dystrophy, central areolar 2;Retinitis punctata albescens Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity). Required for the maintenance of retinal outer nuclear layer thickness (By similarity). Required for the correct development and organization of the photoreceptor inner segment (By similarity). NA Belongs to the PRPH2/ROM1 family. Amyotrophic lateral sclerosis (ALS) PE1 6 +NX_P23945 Follicle-stimulating hormone receptor 695 78265 6.77 7 Cell membrane Ovarian hyperstimulation syndrome;Ovarian dysgenesis 1 G protein-coupled receptor for follitropin, the follicle-stimulating hormone (PubMed:11847099, PubMed:24058690, PubMed:24692546). Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways (PubMed:24058690). Sulfated.;N-glycosylated; indirectly required for FSH-binding, possibly via a conformational change that allows high affinity binding of hormone.;FSHR is phosphorylated by GRK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Hormone ligand-binding receptors PE1 2 +NX_P23946 Chymase 247 27325 9.44 0 Cytoplasmic granule;Secreted NA Major secreted protease of mast cells with suspected roles in vasoactive peptide generation, extracellular matrix degradation, and regulation of gland secretion. NA Belongs to the peptidase S1 family. Granzyme subfamily. Renin-angiotensin system;Signaling by SCF-KIT;Activation of Matrix Metalloproteinases;Metabolism of Angiotensinogen to Angiotensins PE1 14 +NX_P23975 Sodium-dependent noradrenaline transporter 617 69332 7.18 12 Cytosol;Mitochondrion;Cell membrane Orthostatic intolerance Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals. NA Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A2 subfamily. Na+/Cl- dependent neurotransmitter transporters;Defective SLC6A2 causes orthostatic intolerance (OI) PE1 16 +NX_P24001 Interleukin-32 234 26676 5.14 0 Secreted NA Cytokine that may play a role in innate and adaptive immune responses. It induces various cytokines such as TNFA/TNF-alpha and IL8. It activates typical cytokine signal pathways of NF-kappa-B and p38 MAPK. NA NA Other interleukin signaling PE1 16 +NX_P24043 Laminin subunit alpha-2 3122 343905 6.01 0 Basement membrane Muscular dystrophy, limb-girdle, autosomal recessive 23;Merosin-deficient congenital muscular dystrophy 1A Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. NA NA Focal adhesion;ECM-receptor interaction;Toxoplasmosis;Amoebiasis;Pathways in cancer;Small cell lung cancer;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Viral myocarditis;ECM proteoglycans;Non-integrin membrane-ECM interactions;Laminin interactions;MET activates PTK2 signaling PE1 6 +NX_P24046 Gamma-aminobutyric acid receptor subunit rho-1 479 55883 8.71 4 Postsynaptic cell membrane;Cell membrane NA GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Rho-1 GABA receptor could play a role in retinal neurotransmission. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRR1 sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse;GABA receptor activation PE2 6 +NX_P24071 Immunoglobulin alpha Fc receptor 287 32265 6.44 1 Secreted;Cell membrane NA Binds to the Fc region of immunoglobulins alpha. Mediates several functions including cytokine production. NA NA Phagosome;Staphylococcus aureus infection;Neutrophil degranulation PE1 19 +NX_P24158 Myeloblastin 256 27807 8.72 0 Cytoplasmic granule;Membrane raft;Secreted;Cell membrane NA Serine protease that degrades elastin, fibronectin, laminin, vitronectin, and collagen types I, III, and IV (in vitro) (PubMed:3198760, PubMed:2033050, PubMed:28240246). By cleaving and activating receptor F2RL1/PAR-2, enhances endothelial cell barrier function and thus vascular integrity during neutrophil transendothelial migration (PubMed:23202369). May play a role in neutrophil transendothelial migration, probably when associated with CD177 (PubMed:22266279). NA Belongs to the peptidase S1 family. Elastase subfamily. Common Pathway of Fibrin Clot Formation;Neutrophil degranulation;Antimicrobial peptides;Other interleukin signaling PE1 19 +NX_P24278 Zinc finger and BTB domain-containing protein 25 435 48990 6.09 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 14 +NX_P24298 Alanine aminotransferase 1 496 54637 6.77 0 Cytoplasm NA Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. Participates in cellular nitrogen metabolism and also in liver gluconeogenesis starting with precursors transported from skeletal muscles (By similarity). NA Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine aminotransferase subfamily. Amino-acid degradation; L-alanine degradation via transaminase pathway; pyruvate from L-alanine: step 1/1.;Alanine, aspartate and glutamate metabolism;Metabolic pathways;Alanine metabolism PE1 8 +NX_P24310 Cytochrome c oxidase subunit 7A1, mitochondrial 79 9118 10.12 1 Mitochondrion inner membrane NA This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. NA Belongs to the cytochrome c oxidase VIIa family. Oxidative phosphorylation;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease PE1 19 +NX_P24311 Cytochrome c oxidase subunit 7B, mitochondrial 80 9161 10.28 1 Mitochondrion inner membrane Linear skin defects with multiple congenital anomalies 2 This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. Plays a role in proper central nervous system (CNS) development in vertebrates. NA Belongs to the cytochrome c oxidase VIIb family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 X +NX_P24347 Stromelysin-3 488 54590 6.38 0 Extracellular matrix NA May play an important role in the progression of epithelial malignancies. The precursor is cleaved by a furin endopeptidase. Belongs to the peptidase M10A family. Degradation of the extracellular matrix;Collagen degradation;Activation of Matrix Metalloproteinases PE1 22 +NX_P24385 G1/S-specific cyclin-D1 295 33729 4.97 0 Cytoplasm;Nucleoplasm;Nucleus membrane;Nucleus Multiple myeloma Regulatory component of the cyclin D1-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also substrate for SMAD3, phosphorylating SMAD3 in a cell-cycle-dependent manner and repressing its transcriptional activity. Component of the ternary complex, cyclin D1/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex. Exhibits transcriptional corepressor activity with INSM1 on the NEUROD1 and INS promoters in a cell cycle-independent manner. Ubiquitinated, primarily as 'Lys-48'-linked polyubiquitination. Ubiquitinated by a SCF (SKP1-CUL1-F-box protein) ubiquitin-protein ligase complex containing FBXO4 and CRYAB. Following DNA damage it is ubiquitinated by some SCF (SKP1-cullin-F-box) protein ligase complex containing FBXO31. SCF-type ubiquitination is dependent on Thr-286 phosphorylation (By similarity). Ubiquitinated also by UHRF2 apparently in a phosphorylation-independent manner. Ubiquitination leads to its degradation and G1 arrest. Deubiquitinated by USP2; leading to its stabilization.;Phosphorylation at Thr-286 by MAP kinases is required for ubiquitination and degradation following DNA damage. It probably plays an essential role for recognition by the FBXO31 component of SCF (SKP1-cullin-F-box) protein ligase complex. Belongs to the cyclin family. Cyclin D subfamily. Cell cycle;p53 signaling pathway;Wnt signaling pathway;Focal adhesion;Jak-STAT signaling pathway;Measles;HTLV-I infection;Pathways in cancer;Colorectal cancer;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Thyroid cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;Viral myocarditis;RMTs methylate histone arginines;SCF(Skp2)-mediated degradation of p27/p21;Pre-NOTCH Transcription and Translation;Cyclin D associated events in G1;PTK6 Regulates Cell Cycle;Interleukin-4 and Interleukin-13 signaling;RUNX3 regulates WNT signaling;RUNX3 regulates p14-ARF;Transcriptional regulation by RUNX2;Regulation of RUNX1 Expression and Activity;Estrogen-dependent gene expression;Ubiquitin-dependent degradation of Cyclin D;Estrogen-dependent nuclear events downstream of ESR-membrane signaling PE1 11 +NX_P24386 Rab proteins geranylgeranyltransferase component A 1 653 73476 4.68 0 Nucleoplasm;Cytosol Choroideremia Substrate-binding subunit of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B composed of RABGGTA and RABGGTB, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Besides, a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative pathway is proposed to be the predominant pathway for Rab protein geranylgeranylation. NA Belongs to the Rab GDI family. TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 X +NX_P24387 Corticotropin-releasing factor-binding protein 322 36144 6.06 0 Secreted NA Binds CRF and inactivates it. May prevent inappropriate pituitary-adrenal stimulation in pregnancy. NA Belongs to the CRF-binding protein family. Class B/2 (Secretin family receptors) PE1 5 +NX_P24390 ER lumen protein-retaining receptor 1 212 24542 8.8 7 Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus;Endoplasmic reticulum membrane;COPI-coated vesicle membrane;Golgi apparatus membrane;Cytoplasmic vesicle;Cytosol NA Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum. Phosphorylation by PKA at Ser-209 is required for endoplasmic reticulum retention function. Belongs to the ERD2 family. Vibrio cholerae infection;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 19 +NX_P24394 Interleukin-4 receptor subunit alpha 825 89658 4.99 1 Nucleoplasm;Centriolar satellite;Secreted;Cell membrane NA Receptor for both interleukin 4 and interleukin 13. Couples to the JAK1/2/3-STAT6 pathway. The IL4 response is involved in promoting Th2 differentiation. The IL4/IL13 responses are involved in regulating IgE production and, chemokine and mucus production at sites of allergic inflammation. In certain cell types, can signal through activation of insulin receptor substrates, IRS1/IRS2.;Soluble IL4R (sIL4R) inhibits IL4-mediated cell proliferation and IL5 up-regulation by T-cells. On IL4 binding, phosphorylated on C-terminal tyrosine residues. Phosphorylation on any one of tyrosine residues, Tyr-575, Tyr-603 or Tyr-631, is required for STAT6-induced gene induction.;The soluble form (sIL4R/IL4BP) can also be produced by proteolytic cleavage at the cell surface (shedding) by a metalloproteinase. Belongs to the type I cytokine receptor family. Type 4 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Hematopoietic cell lineage;Interleukin-4 and Interleukin-13 signaling PE1 16 +NX_P24462 Cytochrome P450 3A7 503 57470 9.16 0 Microsome membrane;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of steroid hormones and vitamins during embryogenesis (PubMed:9555064, PubMed:11093772, PubMed:14559847, PubMed:12865317, PubMed:17178770). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:9555064, PubMed:11093772, PubMed:14559847, PubMed:12865317, PubMed:17178770). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes 3beta-hydroxyandrost-5-en-17-one (dehydroepiandrosterone, DHEA), a precursor in the biosynthesis of androgen and estrogen steroid hormones (PubMed:9555064, PubMed:17178770). Exhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1), particularly D-ring hydroxylated estrone at the C16-alpha position (PubMed:14559847, PubMed:12865317). Mainly hydroxylates all trans-retinoic acid (atRA) to 4-hydroxyretinoate and may play a role in atRA clearance during fetal development (PubMed:11093772). Also involved in the oxidative metabolism of xenobiotics including anticonvulsants (PubMed:9555064). NA Belongs to the cytochrome P450 family. Cofactor metabolism; retinol metabolism.;Steroid hormone biosynthesis.;Steroid hormone biosynthesis;Linoleic acid metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Xenobiotics PE1 7 +NX_P24468 COUP transcription factor 2 414 45571 8.66 0 Nucleus Congenital heart defects, multiple types, 4 Ligand-activated transcription factor. Activated by high concentrations of 9-cis-retinoic acid and all-trans-retinoic acid, but not by dexamethasone, cortisol or progesterone (in vitro). Regulation of the apolipoprotein A-I gene transcription. Binds to DNA site A. NA Belongs to the nuclear hormone receptor family. NR2 subfamily. Transcriptional regulation of white adipocyte differentiation PE1 15 +NX_P24522 Growth arrest and DNA damage-inducible protein GADD45 alpha 165 18336 4.36 0 Nucleus speckle;Nucleus NA In T-cells, functions as a regulator of p38 MAPKs by inhibiting p88 phosphorylation and activity (By similarity). Might affect PCNA interaction with some CDK (cell division protein kinase) complexes; stimulates DNA excision repair in vitro and inhibits entry of cells into S phase. NA Belongs to the GADD45 family. MAPK signaling pathway;Cell cycle;p53 signaling pathway;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;FOXO-mediated transcription of cell cycle genes PE1 1 +NX_P24530 Endothelin receptor type B 442 49644 9.15 7 Cytosol;Cell membrane ABCD syndrome;Waardenburg syndrome 4A;Hirschsprung disease 2 Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Palmitoylation of Cys-402 was confirmed by the palmitoylation of Cys-402 in a deletion mutant lacking both Cys-403 and Cys-405.;EDNRB is phosphorylated by GRK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRB sub-subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Melanogenesis;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 13 +NX_P24534 Elongation factor 1-beta 225 24764 4.5 0 Cytosol;Nucleolus NA EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP. Phosphorylation affects the GDP/GTP exchange rate. Belongs to the EF-1-beta/EF-1-delta family. Eukaryotic Translation Elongation PE1 2 +NX_P24539 ATP synthase F(0) complex subunit B1, mitochondrial 256 28909 9.37 0 Mitochondrion inner membrane;Mitochondrion NA Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements. NA Belongs to the eukaryotic ATPase B chain family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Formation of ATP by chemiosmotic coupling;Cristae formation PE1 1 +NX_P24557 Thromboxane-A synthase 533 60518 7.56 4 Endoplasmic reticulum membrane Ghosal hematodiaphyseal dysplasia NA NA Belongs to the cytochrome P450 family. Arachidonic acid metabolism;Metabolic pathways;Synthesis of Prostaglandins (PG) and Thromboxanes (TX);Eicosanoids;Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) PE1 7 +NX_P24588 A-kinase anchor protein 5 427 47088 4.87 0 Membrane;Nucleoplasm NA May anchor the PKA protein to cytoskeletal and/or organelle-associated proteins, targeting the signal carried by cAMP to specific intracellular effectors. Association with to the beta2-adrenergic receptor (beta2-AR) not only regulates beta2-AR signaling pathway, but also the activation by PKA by switching off the beta2-AR signaling cascade. Palmitoylation at Cys-36 and Cys-129 plays a key role in targeting to lipid rafts.;AKAP5 is phosphorylated by PRKACA (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Trafficking of AMPA receptors;ROBO receptors bind AKAP5 PE1 14 +NX_P24592 Insulin-like growth factor-binding protein 6 240 25322 8.15 0 Secreted NA IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. O-linked glycans consist of hexose (probably Gal), N-acetylhexosamine (probably GalNAc) and sialic acid residues. O-glycosylated with core 1 or possibly core 8 glycans. O-glycosylated on one site only in the region AA 143-168 in cerebrospinal fluid. NA Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) PE1 12 +NX_P24593 Insulin-like growth factor-binding protein 5 272 30570 8.58 0 Golgi apparatus;Secreted;Nucleus;Cytoplasmic vesicle NA IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. NA NA Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 2 +NX_P24666 Low molecular weight phosphotyrosine protein phosphatase 158 18042 6.29 0 Nucleoplasm;Cytosol;Cytoplasm NA Acts on tyrosine phosphorylated proteins, low-MW aryl phosphates and natural and synthetic acyl phosphates.;Does not possess phosphatase activity. NA Belongs to the low molecular weight phosphotyrosine protein phosphatase family. Riboflavin metabolism;Adherens junction PE1 2 +NX_P24723 Protein kinase C eta type 683 77828 7.94 0 Cytoplasm;Cytosol;Cell membrane Ischemic stroke Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in the regulation of cell differentiation in keratinocytes and pre-B cell receptor, mediates regulation of epithelial tight junction integrity and foam cell formation, and is required for glioblastoma proliferation and apoptosis prevention in MCF-7 cells. In keratinocytes, binds and activates the tyrosine kinase FYN, which in turn blocks epidermal growth factor receptor (EGFR) signaling and leads to keratinocyte growth arrest and differentiation. Associates with the cyclin CCNE1-CDK2-CDKN1B complex and inhibits CDK2 kinase activity, leading to RB1 dephosphorylation and thereby G1 arrest in keratinocytes. In association with RALA activates actin depolymerization, which is necessary for keratinocyte differentiation. In the pre-B cell receptor signaling, functions downstream of BLNK by up-regulating IRF4, which in turn activates L chain gene rearrangement. Regulates epithelial tight junctions (TJs) by phosphorylating occludin (OCLN) on threonine residues, which is necessary for the assembly and maintenance of TJs. In association with PLD2 and via TLR4 signaling, is involved in lipopolysaccharide (LPS)-induced RGS2 down-regulation and foam cell formation. Upon PMA stimulation, mediates glioblastoma cell proliferation by activating the mTOR pathway, the PI3K/AKT pathway and the ERK1-dependent phosphorylation of ELK1. Involved in the protection of glioblastoma cells from irradiation-induced apoptosis by preventing caspase-9 activation. In camptothecin-treated MCF-7 cells, regulates NF-kappa-B upstream signaling by activating IKBKB, and confers protection against DNA damage-induced apoptosis. Promotes oncogenic functions of ATF2 in the nucleus while blocking its apoptotic function at mitochondria. Phosphorylates ATF2 which promotes its nuclear retention and transcriptional activity and negatively regulates its mitochondrial localization. Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily. Vascular smooth muscle contraction;Tight junction;Effects of PIP2 hydrolysis;G alpha (z) signalling events PE1 14 +NX_P24752 Acetyl-CoA acetyltransferase, mitochondrial 427 45200 8.98 0 Mitochondrion 3-ketothiolase deficiency This is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA (PubMed:1715688, PubMed:7728148, PubMed:9744475). Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms (PubMed:1715688, PubMed:7728148, PubMed:9744475). The activity of the enzyme is reversible and it can also catalyze the condensation of two acetyl-CoA molecules into acetoacetyl-CoA (PubMed:17371050). Thereby, it plays a major role in ketone body metabolism (PubMed:17371050, PubMed:1715688, PubMed:7728148, PubMed:9744475). Succinylation at Lys-268, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity). Belongs to the thiolase-like superfamily. Thiolase family. Lipid metabolism; fatty acid beta-oxidation.;Fatty acid metabolism;Synthesis and degradation of ketone bodies;Valine, leucine and isoleucine degradation;Lysine degradation;Tryptophan metabolism;Pyruvate metabolism;Glyoxylate and dicarboxylate metabolism;Propanoate metabolism;Butanoate metabolism;Terpenoid backbone biosynthesis;Metabolic pathways;Branched-chain amino acid catabolism;Synthesis of Ketone Bodies;Utilization of Ketone Bodies PE1 11 +NX_P24821 Tenascin 2201 240853 4.79 0 Extracellular matrix Deafness, autosomal dominant, 56 Extracellular matrix protein implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity as well as neuronal regeneration. Promotes neurite outgrowth from cortical neurons grown on a monolayer of astrocytes. Ligand for integrins alpha-8/beta-1, alpha-9/beta-1, alpha-V/beta-3 and alpha-V/beta-6. In tumors, stimulates angiogenesis by elongation, migration and sprouting of endothelial cells (PubMed:19884327). NA Belongs to the tenascin family. Focal adhesion;ECM-receptor interaction;Syndecan interactions;Integrin cell surface interactions;ECM proteoglycans;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 9 +NX_P24844 Myosin regulatory light polypeptide 9 172 19827 4.8 0 NA NA Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion. Phosphorylation increases the actin-activated myosin ATPase activity and thereby regulates the contractile activity. It is required to generate the driving force in the migration of the cells but not necessary for localization of myosin-2 at the leading edge. NA Vascular smooth muscle contraction;Focal adhesion;Tight junction;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;EPHA-mediated growth cone collapse;Smooth Muscle Contraction;RHO GTPases activate PKNs;Sema4D induced cell migration and growth-cone collapse;RHO GTPases activate CIT;RHO GTPases activate PAKs;RHO GTPases Activate ROCKs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 20 +NX_P24855 Deoxyribonuclease-1 282 31434 4.71 0 Endoplasmic reticulum;Nucleus envelope;Secreted;Cytoplasmic vesicle Systemic lupus erythematosus Serum endocuclease secreted into body fluids by a wide variety of exocrine and endocrine organs (PubMed:2251263, PubMed:11241278, PubMed:2277032). Expressed by non-hematopoietic tissues and preferentially cleaves protein-free DNA (By similarity). Among other functions, seems to be involved in cell death by apoptosis (PubMed:11241278). Binds specifically to G-actin and blocks actin polymerization (By similarity). Together with DNASE1L3, plays a key role in degrading neutrophil extracellular traps (NETs) (By similarity). NETs are mainly composed of DNA fibers and are released by neutrophils to bind pathogens during inflammation (By similarity). Degradation of intravascular NETs by DNASE1 and DNASE1L3 is required to prevent formation of clots that obstruct blood vessels and cause organ damage following inflammation (By similarity). NA Belongs to the DNase I family. NA PE1 16 +NX_P24863 Cyclin-C 283 33243 6.95 0 Nucleoplasm;Cytosol;Nucleus NA Component of the Mediator complex, a coactivator involved in regulated gene transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Binds to and activates cyclin-dependent kinase CDK8 that phosphorylates the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAp II), which may inhibit the formation of a transcription initiation complex. NA Belongs to the cyclin family. Cyclin C subfamily. Generic Transcription Pathway;PPARA activates gene expression;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Transcriptional regulation of white adipocyte differentiation PE1 6 +NX_P24864 G1/S-specific cyclin-E1 410 47077 5.7 0 Nucleoplasm;Nucleus NA Essential for the control of the cell cycle at the G1/S (start) transition. Ubiquitinated by UHRF2; appears to occur independently of phosphorylation.;Phosphorylation of both Thr-395 by GSK3 and Ser-399 by CDK2 creates a high affinity degron recognized by FBXW7, and accelerates degradation via the ubiquitin proteasome pathway. Phosphorylation at Thr-77 creates a low affinity degron also recognized by FBXW7. Belongs to the cyclin family. Cyclin E subfamily. Cell cycle;Oocyte meiosis;p53 signaling pathway;Measles;Pathways in cancer;Prostate cancer;Small cell lung cancer;CDK-mediated phosphorylation and removal of Cdc6;DNA Damage/Telomere Stress Induced Senescence;SCF(Skp2)-mediated degradation of p27/p21;G0 and Early G1;G1/S-Specific Transcription;Association of TriC/CCT with target proteins during biosynthesis;Cyclin E associated events during G1/S transition;Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes;p53-Dependent G1 DNA Damage Response;TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest;PTK6 Regulates Cell Cycle PE1 19 +NX_P24903 Cytochrome P450 2F1 491 55501 6.93 0 Microsome membrane;Endoplasmic reticulum membrane NA May be involved in the metabolism of various pneumotoxicants including naphthalene. Is able to dealkylate ethoxycoumarin, propoxycoumarin, and pentoxyresorufin but possesses no activity toward ethoxyresorufin and only trace dearylation activity toward benzyloxyresorufin. Bioactivates 3-methylindole (3MI) by dehydrogenation to the putative electrophile 3-methylene-indolenine. NA Belongs to the cytochrome P450 family. Metabolism of xenobiotics by cytochrome P450;Xenobiotics;Fatty acids;CYP2E1 reactions PE1 19 +NX_P24928 DNA-directed RNA polymerase II subunit RPB1 1970 217176 7.02 0 Nucleoplasm;Cytoplasm;Nucleus NA (Microbial infection) Acts as an RNA-dependent RNA polymerase when associated with small delta antigen of Hepatitis delta virus, acting both as a replicate and transcriptase for the viral RNA circular genome.;DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Forms the polymerase active center together with the second largest subunit. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB1 is part of the core element with the central large cleft, the clamp element that moves to open and close the cleft and the jaws that are thought to grab the incoming DNA template. At the start of transcription, a single-stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol II. A bridging helix emanates from RPB1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol II by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition. During transcription elongation, Pol II moves on the template as the transcript elongates. Elongation is influenced by the phosphorylation status of the C-terminal domain (CTD) of Pol II largest subunit (RPB1), which serves as a platform for assembly of factors that regulate transcription initiation, elongation, termination and mRNA processing. Regulation of gene expression levels depends on the balance between methylation and acetylation levels of tha CTD-lysines (By similarity). Initiation or early elongation steps of transcription of growth-factors-induced immediate early genes are regulated by the acetylation status of the CTD (PubMed:24207025). Methylation and dimethylation have a repressive effect on target genes expression (By similarity). Among tandem heptapeptide repeats of the C-terminal domain (CTD) some do not match the Y-S-P-T-S-P-S consensus, the seventh serine residue 'Ser-7' being replaced by a lysine. 'Lys-7' in these non-consensus heptapeptide repeats can be alternatively acetylated, methylated and dimethylated. EP300 is one of the enzyme able to acetylate 'Lys-7'. Acetylation at 'Lys-7' of non-consensus heptapeptide repeats is associated with 'Ser-2' phosphorylation and active transcription. Regulates initiation or early elongation steps of transcription specially for inducible genes.;Ubiquitinated by WWP2 leading to proteasomal degradation (By similarity). Following UV treatment, the elongating form of RNA polymerase II (RNA pol IIo) is ubiquitinated on UV damage sites without leading to degradation: ubiquitination is facilitated by KIAA1530/UVSSA and promotes RNA pol IIo backtracking to allow access to the nucleotide excision repair machinery.;The tandem heptapeptide repeats in the C-terminal domain (CTD) can be highly phosphorylated. The phosphorylation activates Pol II. Phosphorylation occurs mainly at residues 'Ser-2' and 'Ser-5' of the heptapeptide repeat and is mediated, at least, by CDK7 and CDK9. CDK7 phosphorylation of POLR2A associated with DNA promotes transcription initiation by triggering dissociation from DNA. Phosphorylation also takes place at 'Ser-7' of the heptapeptide repeat, which is required for efficient transcription of snRNA genes and processing of the transcripts. The phosphorylation state is believed to result from the balanced action of site-specific CTD kinases and phosphatases, and a 'CTD code' that specifies the position of Pol II within the transcription cycle has been proposed. Dephosphorylated by the protein phosphatase CTDSP1.;Methylated at Arg-1810 prior to transcription initiation when the CTD is hypophosphorylated, phosphorylation at Ser-1805 and Ser-1808 preventing this methylation. Symmetrically or asymmetrically dimethylated at Arg-1810 by PRMT5 and CARM1 respectively. Symmetric or asymmetric dimethylation modulates interactions with CTD-binding proteins like SMN1/SMN2 and TDRD3. SMN1/SMN2 interacts preferentially with the symmetrically dimethylated form while TDRD3 interacts with the asymmetric form. Through the recruitment of SMN1/SMN2, symmetric dimethylation is required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination. CTD dimethylation may also facilitate the expression of select RNAs. Among tandem heptapeptide repeats of the C-terminal domain (CTD) some do not match the Y-S-P-T-S-P-S consensus, the seventh serine residue 'Ser-7' being replaced by a lysine. 'Lys-7' in these non-consensus heptapeptide repeats can be alternatively acetylated, methylated, dimethylated and trimethylated. Methylation occurs in the earliest transcription stages and precedes or is concomitant to 'Ser-5' and 'Ser-7' phosphorylation. Dimethylation and trimehtylation at 'Lys-7' of non-consensus heptapeptide repeats are exclusively associated with phosphorylated CTD.;POLR2A is phosphorylated by CDK1;POLR2A is phosphorylated by CDK19;POLR2A is phosphorylated by MAPK3 Belongs to the RNA polymerase beta' chain family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Huntington's disease;Herpes simplex infection;Viral Messenger RNA Synthesis;Transcriptional regulation by small RNAs;PIWI-interacting RNA (piRNA) biogenesis;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;Processing of Capped Intron-Containing Pre-mRNA;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;MicroRNA (miRNA) biogenesis;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Activation of anterior HOX genes in hindbrain development during early embryogenesis;FGFR2 alternative splicing;RNA polymerase II transcribes snRNA genes;Signaling by FGFR2 IIIa TM;TP53 Regulates Transcription of DNA Repair Genes;Estrogen-dependent gene expression PE1 17 +NX_P24941 Cyclin-dependent kinase 2 298 33930 8.8 0 Cajal body;Cytoplasm;Nucleoplasm;Endosome;Centrosome;Cytosol NA Serine/threonine-protein kinase involved in the control of the cell cycle; essential for meiosis, but dispensable for mitosis. Phosphorylates CTNNB1, USP37, p53/TP53, NPM1, CDK7, RB1, BRCA2, MYC, NPAT, EZH2. Triggers duplication of centrosomes and DNA. Acts at the G1-S transition to promote the E2F transcriptional program and the initiation of DNA synthesis, and modulates G2 progression; controls the timing of entry into mitosis/meiosis by controlling the subsequent activation of cyclin B/CDK1 by phosphorylation, and coordinates the activation of cyclin B/CDK1 at the centrosome and in the nucleus. Crucial role in orchestrating a fine balance between cellular proliferation, cell death, and DNA repair in human embryonic stem cells (hESCs). Activity of CDK2 is maximal during S phase and G2; activated by interaction with cyclin E during the early stages of DNA synthesis to permit G1-S transition, and subsequently activated by cyclin A2 (cyclin A1 in germ cells) during the late stages of DNA replication to drive the transition from S phase to mitosis, the G2 phase. EZH2 phosphorylation promotes H3K27me3 maintenance and epigenetic gene silencing. Phosphorylates CABLES1 (By similarity). Cyclin E/CDK2 prevents oxidative stress-mediated Ras-induced senescence by phosphorylating MYC. Involved in G1-S phase DNA damage checkpoint that prevents cells with damaged DNA from initiating mitosis; regulates homologous recombination-dependent repair by phosphorylating BRCA2, this phosphorylation is low in S phase when recombination is active, but increases as cells progress towards mitosis. In response to DNA damage, double-strand break repair by homologous recombination a reduction of CDK2-mediated BRCA2 phosphorylation. Phosphorylation of RB1 disturbs its interaction with E2F1. NPM1 phosphorylation by cyclin E/CDK2 promotes its dissociates from unduplicated centrosomes, thus initiating centrosome duplication. Cyclin E/CDK2-mediated phosphorylation of NPAT at G1-S transition and until prophase stimulates the NPAT-mediated activation of histone gene transcription during S phase. Required for vitamin D-mediated growth inhibition by being itself inactivated. Involved in the nitric oxide- (NO) mediated signaling in a nitrosylation/activation-dependent manner. USP37 is activated by phosphorylation and thus triggers G1-S transition. CTNNB1 phosphorylation regulates insulin internalization. Phosphorylates FOXP3 and negatively regulates its transcriptional activity and protein stability (By similarity). Phosphorylates CDK2AP2 (PubMed:12944431). Phosphorylates ERCC6 which is essential for its chromatin remodeling activity at DNA double-strand breaks (PubMed:29203878). Phosphorylated at Thr-160 by CDK7 in a CAK complex (PubMed:28666995). Phosphorylation at Thr-160 promotes kinase activity, whereas phosphorylation at Tyr-15 by WEE1 reduces slightly kinase activity. Phosphorylated on Thr-14 and Tyr-15 during S and G2 phases before being dephosphorylated by CDC25A.;Nitrosylated after treatment with nitric oxide (DETA-NO). Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. Cell cycle;Oocyte meiosis;p53 signaling pathway;Progesterone-mediated oocyte maturation;Measles;Herpes simplex infection;Pathways in cancer;Prostate cancer;Small cell lung cancer;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Factors involved in megakaryocyte development and platelet production;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;Meiotic recombination;SCF(Skp2)-mediated degradation of p27/p21;G0 and Early G1;Activation of ATR in response to replication stress;Activation of the pre-replicative complex;Cyclin E associated events during G1/S transition;Cyclin A/B1/B2 associated events during G2/M transition;Regulation of APC/C activators between G1/S and early anaphase;Cyclin A:Cdk2-associated events at S phase entry;Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes;G2 Phase;p53-Dependent G1 DNA Damage Response;Processing of DNA double-strand break ends;Regulation of TP53 Activity through Phosphorylation;TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest;Regulation of TP53 Degradation;PTK6 Regulates Cell Cycle;Transcriptional regulation of granulopoiesis PE1 12 +NX_P25021 Histamine H2 receptor 359 40098 9.36 7 Cell membrane NA The H2 subclass of histamine receptors mediates gastric acid secretion. Also appears to regulate gastrointestinal motility and intestinal secretion. Possible role in regulating cell growth and differentiation. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and, through a separate G protein-dependent mechanism, the phosphoinositide/protein kinase (PKC) signaling pathway (By similarity). NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Gastric acid secretion;G alpha (s) signalling events;Histamine receptors PE1 5 +NX_P25024 C-X-C chemokine receptor type 1 350 39791 8.98 7 Cell membrane NA Receptor to interleukin-8, which is a powerful neutrophils chemotactic factor. Binding of IL-8 to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activate a phosphatidylinositol-calcium second messenger system. This receptor binds to IL-8 with a high affinity and to MGSA (GRO) with a low affinity. NA Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Endocytosis;Epithelial cell signaling in Helicobacter pylori infection;G alpha (i) signalling events;Chemokine receptors bind chemokines;Neutrophil degranulation PE1 2 +NX_P25025 C-X-C chemokine receptor type 2 360 40759 8.66 7 Nucleoplasm;Spindle;Cell membrane;Cytoskeleton NA Receptor for interleukin-8 which is a powerful neutrophil chemotactic factor. Binding of IL-8 to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. Binds to IL-8 with high affinity. Also binds with high affinity to CXCL3, GRO/MGSA and NAP-2. Phosphorylated upon ligand binding; which is required for desensitization.;(Microbial infection) Proteolytically cleaved by Staphylococcus aureus staphopain A/SspP. This cleavage inhibits CXCR2-dependent neutrophil activation and chemotaxis. Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Endocytosis;Epithelial cell signaling in Helicobacter pylori infection;G alpha (i) signalling events;Chemokine receptors bind chemokines;Neutrophil degranulation PE1 2 +NX_P25054 Adenomatous polyposis coli protein 2843 311646 7.92 0 Cytoplasm;Cell membrane;Adherens junction;Lamellipodium;Ruffle membrane;Cytoskeleton Hepatocellular carcinoma;Gastric cancer;Hereditary desmoid disease;Medulloblastoma;Familial adenomatous polyposis Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and ARHGEF4. Plays a role in hepatocyte growth factor (HGF)-induced cell migration. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this localization of MACF1 is critical for its function in microtubule stabilization. Phosphorylated by GSK3B.;Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is facilitated by Axin. Deubiquitinated by ZRANB1/TRABID. Belongs to the adenomatous polyposis coli (APC) family. Wnt signaling pathway;Regulation of actin cytoskeleton;HTLV-I infection;Pathways in cancer;Colorectal cancer;Endometrial cancer;Basal cell carcinoma;Degradation of beta-catenin by the destruction complex;Deactivation of the beta-catenin transactivating complex;Apoptotic cleavage of cellular proteins;Disassembly of the destruction complex and recruitment of AXIN to the membrane;Beta-catenin phosphorylation cascade;Misspliced GSK3beta mutants stabilize beta-catenin;S33 mutants of beta-catenin aren't phosphorylated;S37 mutants of beta-catenin aren't phosphorylated;S45 mutants of beta-catenin aren't phosphorylated;T41 mutants of beta-catenin aren't phosphorylated;APC truncation mutants have impaired AXIN binding;AXIN missense mutants destabilize the destruction complex;Truncations of AMER1 destabilize the destruction complex;APC truncation mutants are not K63 polyubiquitinated;Ovarian tumor domain proteases PE1 5 +NX_P25063 Signal transducer CD24 80 8083 9.69 0 Cell membrane Multiple sclerosis May have a pivotal role in cell differentiation of different cell types. Signaling could be triggered by the binding of a lectin-like ligand to the CD24 carbohydrates, and transduced by the release of second messengers derived from the GPI-anchor. Modulates B-cell activation responses. Promotes AG-dependent proliferation of B-cells, and prevents their terminal differentiation into antibody-forming cells (PubMed:11313396). In association with SIGLEC10 may be involved in the selective suppression of the immune response to danger-associated molecular patterns (DAMPs) such as HMGB1, HSP70 and HSP90. Plays a role in the control of autoimmunity (By similarity). Extensively O-glycosylated. Belongs to the CD24 family. Hematopoietic cell lineage;L1CAM interactions PE1 6 +NX_P25067 Collagen alpha-2(VIII) chain 703 67244 9.05 0 Golgi apparatus;Basement membrane Corneal dystrophy, posterior polymorphous, 2;Corneal dystrophy, Fuchs endothelial, 1 Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis (By similarity). Proteolytically cleaved by neutrophil elastase, in vitro.;Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. NA Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;Assembly of collagen fibrils and other multimeric structures;Collagen chain trimerization PE1 1 +NX_P25089 N-formyl peptide receptor 3 353 39965 8.12 7 Cell membrane NA Low affinity receptor for N-formyl-methionyl peptides, which are powerful neutrophils chemotactic factors. Binding of FMLP to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Staphylococcus aureus infection;G alpha (i) signalling events;Formyl peptide receptors bind formyl peptides and many other ligands PE1 19 +NX_P25090 N-formyl peptide receptor 2 351 38964 8.09 7 Cell membrane NA Low affinity receptor for N-formyl-methionyl peptides, which are powerful neutrophil chemotactic factors (PubMed:1374236). Binding of FMLP to the receptor causes activation of neutrophils (PubMed:1374236). This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system (PubMed:1374236). The activation of LXA4R could result in an anti-inflammatory outcome counteracting the actions of proinflammatory signals such as LTB4 (leukotriene B4) (PubMed:9547339). Receptor for the chemokine-like protein FAM19A5, mediating FAM19A5-stimulated macrophage chemotaxis and the inhibitory effect on TNFSF11/RANKL-induced osteoclast differentiation (By similarity). NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Staphylococcus aureus infection;G alpha (i) signalling events;G alpha (q) signalling events;Formyl peptide receptors bind formyl peptides and many other ligands;Neutrophil degranulation PE1 19 +NX_P25092 Heat-stable enterotoxin receptor 1073 123403 6.77 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cell membrane Meconium ileus;Diarrhea 6 Receptor for the E.coli heat-stable enterotoxin (E.coli enterotoxin markedly stimulates the accumulation of cGMP in mammalian cells expressing GC-C). Also activated by the endogenous peptides guanylin and uroguanylin. Glycosylation at Asn-75 and/or Asn-79 is required for interaction with VIP36 while glycosylation at Asn-345 and Asn-402 modulates ligand-mediated GC-C activation. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Digestion;Intestinal infectious diseases PE1 12 +NX_P25098 Beta-adrenergic receptor kinase 1 689 79574 6.89 0 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA Specifically phosphorylates the agonist-occupied form of the beta-adrenergic and closely related receptors, probably inducing a desensitization of them. Key regulator of LPAR1 signaling. Competes with RALA for binding to LPAR1 thus affecting the signaling properties of the receptor. Desensitizes LPAR1 and LPAR2 in a phosphorylation-independent manner (PubMed:19306925, PubMed:19715378). Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh) signaling pathway by facilitating the trafficking of SMO into the cilium and the stimulation of SMO activity (By similarity). NA Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily. Chemokine signaling pathway;Endocytosis;Glutamatergic synapse;G alpha (q) signalling events;G alpha (s) signalling events;Activation of SMO;Calmodulin induced events;Cargo recognition for clathrin-mediated endocytosis PE1 11 +NX_P25100 Alpha-1D adrenergic receptor 572 60463 9.41 7 Cell membrane NA This alpha-adrenergic receptor mediates its effect through the influx of extracellular calcium. NA Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRA1D sub-subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Vascular smooth muscle contraction;Salivary secretion;G alpha (q) signalling events;G alpha (12/13) signalling events;Adrenoceptors PE1 20 +NX_P25101 Endothelin-1 receptor 427 48722 8.73 7 Cytosol;Cell membrane Mandibulofacial dysostosis with alopecia Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3. EDNRA is phosphorylated by GRK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRA sub-subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Vascular smooth muscle contraction;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 4 +NX_P25103 Substance-P receptor 407 46251 6.78 7 Cell membrane NA This is a receptor for the tachykinin neuropeptide substance P. It is probably associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: substance P > substance K > neuromedin-K. TACR1 is phosphorylated by GRK5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Measles;G alpha (q) signalling events;Tachykinin receptors bind tachykinins;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 2 +NX_P25105 Platelet-activating factor receptor 342 39203 9.2 7 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA Receptor for platelet activating factor, a chemotactic phospholipid mediator that possesses potent inflammatory, smooth-muscle contractile and hypotensive activity. Seems to mediate its action via a G protein that activates a phosphatidylinositol-calcium second messenger system. NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Staphylococcus aureus infection;G alpha (q) signalling events;Class A/1 (Rhodopsin-like receptors);Interferon gamma signaling;Neutrophil degranulation;Interleukin-10 signaling PE1 1 +NX_P25106 Atypical chemokine receptor 3 362 41493 7.52 7 Cell membrane;Recycling endosome;Early endosome;Cytoplasmic vesicle;Perinuclear region NA Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines CXCL11 and CXCL12/SDF1. Chemokine binding does not activate G-protein-mediated signal transduction but instead induces beta-arrestin recruitment, leading to ligand internalization and activation of MAPK signaling pathway. Required for regulation of CXCR4 protein levels in migrating interneurons, thereby adapting their chemokine responsiveness. In glioma cells, transduces signals via MEK/ERK pathway, mediating resistance to apoptosis. Promotes cell growth and survival. Not involved in cell migration, adhesion or proliferation of normal hematopoietic progenitors but activated by CXCL11 in malignant hemapoietic cells, leading to phosphorylation of ERK1/2 (MAPK3/MAPK1) and enhanced cell adhesion and migration. Plays a regulatory role in CXCR4-mediated activation of cell surface integrins by CXCL12. Required for heart valve development. Acts as coreceptor with CXCR4 for a restricted number of HIV isolates. The Ser/Thr residues in the C-terminal cytoplasmic tail may be phosphorylated.;Ubiquitinated at the Lys residues in its C-terminal cytoplasmic tail and is essential for correct trafficking from and to the cell membrane. Deubiquitinated by CXCL12-stimulation in a reversible manner. Belongs to the G-protein coupled receptor 1 family. Atypical chemokine receptor subfamily. Cytokine-cytokine receptor interaction;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 2 +NX_P25116 Proteinase-activated receptor 1 425 47441 8.62 7 Cell membrane NA High affinity receptor for activated thrombin coupled to G proteins that stimulate phosphoinositide hydrolysis. May play a role in platelets activation and in vascular development. A proteolytic cleavage generates a new N-terminus that functions as a tethered ligand.;Phosphorylated in the C-terminal tail; probably mediating desensitization prior to the uncoupling and internalization of the receptor. Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Endocytosis;Complement and coagulation cascades;Regulation of actin cytoskeleton;Peptide ligand-binding receptors;G alpha (q) signalling events;Common Pathway of Fibrin Clot Formation;Thrombin signalling through proteinase activated receptors (PARs) PE1 5 +NX_P25189 Myelin protein P0 248 27555 9.57 1 Myelin membrane;Cell membrane Dejerine-Sottas syndrome;Charcot-Marie-Tooth disease, dominant, intermediate type, D;Charcot-Marie-Tooth disease 1B;Neuropathy, congenital hypomyelinating, 2;Charcot-Marie-Tooth disease 2J;Roussy-Levy syndrome;Charcot-Marie-Tooth disease 2I;Adie pupil Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction. N-glycosylated; contains sulfate-substituted glycan. Belongs to the myelin P0 protein family. Cell adhesion molecules (CAMs) PE1 1 +NX_P25205 DNA replication licensing factor MCM3 808 90981 5.53 0 Nucleoplasm;Nucleus NA Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. Required for DNA replication and cell proliferation. Acetylated by MCM3AP.;O-glycosylated (O-GlcNAcylated), in a cell cycle-dependent manner. Belongs to the MCM family. DNA replication;Cell cycle;Orc1 removal from chromatin;Activation of ATR in response to replication stress;Assembly of the pre-replicative complex;Activation of the pre-replicative complex;Unwinding of DNA;Switching of origins to a post-replicative state PE1 6 +NX_P25208 Nuclear transcription factor Y subunit beta 207 22831 4.46 0 Nucleoplasm;Nucleus NA Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5'-CCAAT-3' box motif found in the promoters of its target genes. NF-Y can function as both an activator and a repressor, depending on its interacting cofactors. Monoubiquitination at Lys-140 plays an important role in transcriptional activation by allowing the deposition of histone H3 methylations as well as histone H2B monoubiquitination at 'Lys-121'. Belongs to the NFYB/HAP3 subunit family. Antigen processing and presentation;Tuberculosis;HTLV-I infection;PPARA activates gene expression;ATF4 activates genes in response to endoplasmic reticulum stress;Activation of gene expression by SREBF (SREBP);ATF6 (ATF6-alpha) activates chaperone genes;FOXO-mediated transcription of cell death genes PE1 12 +NX_P25311 Zinc-alpha-2-glycoprotein 298 34259 5.71 0 Secreted NA Stimulates lipid degradation in adipocytes and causes the extensive fat losses associated with some advanced cancers. May bind polyunsaturated fatty acids. N-glycosylated. N-glycan at Asn-128: Hex5HexNAc4. Belongs to the MHC class I family. Miscellaneous transport and binding events PE1 7 +NX_P25325 3-mercaptopyruvate sulfurtransferase 297 33178 6.13 0 Cytoplasm;Cytosol;Mitochondrion;Synaptosome NA Transfer of a sulfur ion to cyanide or to other thiol compounds. Also has weak rhodanese activity. Detoxifies cyanide and is required for thiosulfate biosynthesis. Acts as an antioxidant. In combination with cysteine aminotransferase (CAT), contributes to the catabolism of cysteine and is an important producer of hydrogen sulfide in the brain, retina and vascular endothelial cells. Hydrogen sulfide H(2)S is an important synaptic modulator, signaling molecule, smooth muscle contractor and neuroprotectant. Its production by the 3MST/CAT pathway is regulated by calcium ions. NA NA Cysteine and methionine metabolism;Metabolic pathways;Sulfur relay system;Degradation of cysteine and homocysteine PE1 22 +NX_P25391 Laminin subunit alpha-1 3075 337084 5.93 0 Basement membrane Poretti-Boltshauser syndrome Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Tyrosine phosphorylated by PKDCC/VLK. NA Focal adhesion;ECM-receptor interaction;Toxoplasmosis;Amoebiasis;Pathways in cancer;Small cell lung cancer;ECM proteoglycans;Non-integrin membrane-ECM interactions;L1CAM interactions;Laminin interactions;MET activates PTK2 signaling PE1 18 +NX_P25398 40S ribosomal protein S12 132 14515 6.81 0 Golgi apparatus;Cytoplasm;Nucleolus;Cytoplasmic vesicle;Cytosol NA NA NA Belongs to the eukaryotic ribosomal protein eS12 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 6 +NX_P25440 Bromodomain-containing protein 2 801 88061 9.13 0 Nucleus speckle;Nucleus NA May play a role in spermatogenesis or folliculogenesis (By similarity). Binds hyperacetylated chromatin and plays a role in the regulation of transcription, probably by chromatin remodeling. Regulates transcription of the CCND1 gene. Plays a role in nucleosome assembly. NA NA RUNX3 regulates p14-ARF PE1 6 +NX_P25445 Tumor necrosis factor receptor superfamily member 6 335 37732 8.29 1 Cytosol;Secreted;Nucleus;Cell membrane Autoimmune lymphoproliferative syndrome 1A Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro). N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.;FAS is phosphorylated by EGFR (Phosphotyrosine:PTM-0255) NA MAPK signaling pathway;Cytokine-cytokine receptor interaction;p53 signaling pathway;Apoptosis;Natural killer cell mediated cytotoxicity;Type I diabetes mellitus;Alzheimer's disease;Chagas disease (American trypanosomiasis);African trypanosomiasis;Measles;Influenza A;Herpes simplex infection;Pathways in cancer;Autoimmune thyroid disease;Allograft rejection;Graft-versus-host disease;Caspase activation via Death Receptors in the presence of ligand;Regulation by c-FLIP;RIPK1-mediated regulated necrosis;CASP8 activity is inhibited;Dimerization of procaspase-8;FasL/ CD95L signaling;TP53 Regulates Transcription of Death Receptors and Ligands PE1 10 +NX_P25490 Transcriptional repressor protein YY1 414 44713 5.8 0 Nucleus matrix;Nucleolus;Nucleoplasm;Cytoplasmic vesicle;Nucleus Gabriele-de Vries syndrome Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair; proposed to target the INO80 complex to YY1-responsive elements.;Multifunctional transcription factor that exhibits positive and negative control on a large number of cellular and viral genes by binding to sites overlapping the transcription start site. Binds to the consensus sequence 5'-CCGCCATNTT-3'; some genes have been shown to contain a longer binding motif allowing enhanced binding; the initial CG dinucleotide can be methylated greatly reducing the binding affinity. The effect on transcription regulation is depending upon the context in which it binds and diverse mechanisms of action include direct activation or repression, indirect activation or repression via cofactor recruitment, or activation or repression by disruption of binding sites or conformational DNA changes. Its activity is regulated by transcription factors and cytoplasmic proteins that have been shown to abrogate or completely inhibit YY1-mediated activation or repression. For example, it acts as a repressor in absence of adenovirus E1A protein but as an activator in its presence. Acts synergistically with the SMAD1 and SMAD4 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (PubMed:15329343). Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response element (BMPRE) of cardiac activating regions. May play an important role in development and differentiation. Proposed to recruit the PRC2/EED-EZH2 complex to target genes that are transcriptional repressed. Involved in DNA repair. In vitro, binds to DNA recombination intermediate structures (Holliday junctions). Plays a role in regulating enhancer activation (PubMed:28575647). Ubiquitinated.;Transiently poly-ADP-ribosylated by PARP1 upon DNA damage, with the effect of decreasing affinity of YY1 to its cognate DNA binding sites. Belongs to the YY transcription factor family. DNA Damage Recognition in GG-NER;Activation of anterior HOX genes in hindbrain development during early embryogenesis;UCH proteinases;TFAP2 (AP-2) family regulates transcription of growth factors and their receptors;Estrogen-dependent gene expression PE1 14 +NX_P25685 DnaJ homolog subfamily B member 1 340 38044 8.74 0 Nucleoplasm;Nucleolus;Cytoplasm;Nucleus NA Interacts with HSP70 and can stimulate its ATPase activity. Stimulates the association between HSC70 and HIP. Negatively regulates heat shock-induced HSF1 transcriptional activity during the attenuation and recovery phase period of the heat shock response (PubMed:9499401). Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro) (PubMed:24318877). NA NA Protein processing in endoplasmic reticulum;Influenza A;MAPK6/MAPK4 signaling;Regulation of HSF1-mediated heat shock response;Attenuation phase;HSF1-dependent transactivation;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 19 +NX_P25686 DnaJ homolog subfamily B member 2 324 35580 5.69 0 Cytoplasm;Endoplasmic reticulum membrane;Nucleus membrane;Nucleus Distal spinal muscular atrophy, autosomal recessive, 5 Which is localized to the endoplasmic reticulum membranes may specifically function in ER-associated protein degradation of misfolded proteins (PubMed:15936278).;Functions as a co-chaperone, regulating the substrate binding and activating the ATPase activity of chaperones of the HSP70/heat shock protein 70 family (PubMed:7957263, PubMed:22219199). In parallel, also contributes to the ubiquitin-dependent proteasomal degradation of misfolded proteins (PubMed:15936278, PubMed:21625540). Thereby, may regulate the aggregation and promote the functional recovery of misfolded proteins like HTT, MC4R, PRKN, RHO and SOD1 and be crucial for many biological processes (PubMed:12754272, PubMed:20889486, PubMed:21719532, PubMed:22396390, PubMed:24023695). Ubiquitinated by STUB1; does not lead to proteasomal degradation. NA Protein processing in endoplasmic reticulum PE1 2 +NX_P25705 ATP synthase subunit alpha, mitochondrial 553 59751 9.16 0 Mitochondrion inner membrane;Mitochondrion;Cell membrane Mitochondrial complex V deficiency, nuclear type 4;Combined oxidative phosphorylation deficiency 22 Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. Subunit alpha does not bear the catalytic high-affinity ATP-binding sites (By similarity). Binds the bacterial siderophore enterobactin and can promote mitochondrial accumulation of enterobactin-derived iron ions (PubMed:30146159). The N-terminus is blocked.;Acetylated on lysine residues. BLOC1S1 is required for acetylation. Belongs to the ATPase alpha/beta chains family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Mitochondrial protein import;Formation of ATP by chemiosmotic coupling;Cristae formation PE1 18 +NX_P25713 Metallothionein-3 68 6927 4.79 0 NA NA Binds heavy metals. Contains three zinc and three copper atoms per polypeptide chain and only a negligible amount of cadmium. Inhibits survival and neurite formation of cortical neurons in vitro. NA Belongs to the metallothionein superfamily. Type 1 family. Metallothioneins bind metals PE1 16 +NX_P25774 Cathepsin S 331 37496 8.61 0 Cytoplasmic vesicle;Lysosome NA Thiol protease. Key protease responsible for the removal of the invariant chain from MHC class II molecules. The bond-specificity of this proteinase is in part similar to the specificities of cathepsin L. NA Belongs to the peptidase C1 family. Lysosome;Phagosome;Antigen processing and presentation;Tuberculosis;Degradation of the extracellular matrix;MHC class II antigen presentation;Endosomal/Vacuolar pathway;Trafficking and processing of endosomal TLR;Assembly of collagen fibrils and other multimeric structures;Neutrophil degranulation PE1 1 +NX_P25786 Proteasome subunit alpha type-1 263 29556 6.15 0 Cytoplasm;Nucleoplasm;Nucleus NA Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). NA Belongs to the peptidase T1A family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 11 +NX_P25787 Proteasome subunit alpha type-2 234 25899 6.91 0 Cytoplasm;Nucleus NA Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Phosphorylated on tyrosine residues; which may be important for nuclear import. Belongs to the peptidase T1A family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neutrophil degranulation;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 7 +NX_P25788 Proteasome subunit alpha type-3 255 28433 5.19 0 Cytoplasm;Nucleus NA Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Binds to the C-terminus of CDKN1A and thereby mediates its degradation. Negatively regulates the membrane trafficking of the cell-surface thromboxane A2 receptor (TBXA2R) isoform 2. NA Belongs to the peptidase T1A family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 14 +NX_P25789 Proteasome subunit alpha type-4 261 29484 7.58 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). NA Belongs to the peptidase T1A family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 15 +NX_P25791 Rhombotin-2 158 18358 6.79 0 Nucleoplasm;Nucleus NA Acts with TAL1/SCL to regulate red blood cell development. Also acts with LDB1 to maintain erythroid precursors in an immature state. NA NA RUNX1 regulates transcription of genes involved in differentiation of HSCs PE1 11 +NX_P25800 Rhombotin-1 156 17828 8.33 0 Nucleus NA May be involved in gene regulation within neural lineage cells potentially by direct DNA binding or by binding to other transcription factors. NA NA RUNX1 regulates transcription of genes involved in differentiation of HSCs PE1 11 +NX_P25815 Protein S100-P 95 10400 4.75 0 Cytoplasm;Microvillus membrane;Nucleus NA May function as calcium sensor and contribute to cellular calcium signaling. In a calcium-dependent manner, functions by interacting with other proteins, such as EZR and PPP5C, and indirectly plays a role in physiological processes like the formation of microvilli in epithelial cells. May stimulate cell proliferation in an autocrine manner via activation of the receptor for activated glycation end products (RAGE). NA Belongs to the S-100 family. Neutrophil degranulation PE1 4 +NX_P25874 Mitochondrial brown fat uncoupling protein 1 307 33005 9.26 6 Mitochondrion inner membrane NA Mitochondrial protein responsible for thermogenic respiration, a specialized capacity of brown adipose tissue and beige fat that participates to non-shivering adaptive thermogenesis to temperature and diet variations and more generally to the regulation of energy balance (By similarity). Functions as a long-chain fatty acid/LCFA and proton symporter, simultaneously transporting one LCFA and one proton through the inner mitochondrial membrane (PubMed:24196960). However, LCFAs remaining associated with the transporter via their hydrophobic tails, it results in an apparent transport of protons activated by LCFAs. Thereby, dissipates the mitochondrial proton gradient and converts the energy of substrate oxydation into heat instead of ATP. Regulates the production of reactive oxygen species/ROS by mitochondria (By similarity). May undergo sulfenylation upon cold exposure. May increase the sensitivity of UCP1 thermogenic function to the activation by noradrenaline probably through structural effects.;May undergo ubiquitin-mediated proteasomal degradation. Belongs to the mitochondrial carrier (TC 2.A.29) family. PPAR signaling pathway;Huntington's disease;The fatty acid cycling model;The proton buffering model PE1 4 +NX_P25929 Neuropeptide Y receptor type 1 384 44392 7.94 7 Nucleoplasm;Cytosol;Mitochondrion;Cell membrane NA Receptor for neuropeptide Y and peptide YY. The rank order of affinity of this receptor for pancreatic polypeptides is NPY > [Pro-34] PYY, PYY and [Leu-31, Pro-34] NPY > NPY (2-36) > [Ile-31, Gln-34] PP and PYY (3-36) > PP > NPY free acid. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors PE1 4 +NX_P25940 Collagen alpha-3(V) chain 1745 172121 6.44 0 Extracellular matrix NA Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Belongs to the fibrillar collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Amoebiasis;Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Syndecan interactions;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Non-integrin membrane-ECM interactions;Extracellular matrix organization;MET activates PTK2 signaling;Collagen chain trimerization PE1 19 +NX_P25942 Tumor necrosis factor receptor superfamily member 5 277 30619 5.49 1 Secreted;Cell membrane Immunodeficiency with hyper-IgM 3 Receptor for TNFSF5/CD40LG. Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion. NA NA Cytokine-cytokine receptor interaction;Cell adhesion molecules (CAMs);Toll-like receptor signaling pathway;Intestinal immune network for IgA production;Malaria;Toxoplasmosis;HTLV-I infection;Asthma;Autoimmune thyroid disease;Systemic lupus erythematosus;Allograft rejection;Primary immunodeficiency;Viral myocarditis;TNFR2 non-canonical NF-kB pathway;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway PE1 20 +NX_P25963 NF-kappa-B inhibitor alpha 317 35609 4.57 0 Cytoplasm;Cytosol;Nucleus Ectodermal dysplasia and immunodeficiency 2 Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and proinflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription. Phosphorylated; disables inhibition of NF-kappa-B DNA-binding activity. Phosphorylation at positions 32 and 36 is prerequisite to recognition by UBE2D3 leading to polyubiquitination and subsequent degradation.;Sumoylated; sumoylation requires the presence of the nuclear import signal. Sumoylation blocks ubiquitination and proteasome-mediated degradation of the protein thereby increasing the protein stability.;Deubiquitinated by porcine reproductive and respiratory syndrome virus Nsp2 protein, which thereby interferes with NFKBIA degradation and impairs subsequent NF-kappa-B activation.;Monoubiquitinated at Lys-21 and/or Lys-22 by UBE2D3. Ubiquitin chain elongation is then performed by CDC34 in cooperation with the SCF(FBXW11) E3 ligase complex, building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. The resulting polyubiquitination leads to protein degradation. Also ubiquitinated by SCF(BTRC) following stimulus-dependent phosphorylation at Ser-32 and Ser-36.;NFKBIA is phosphorylated by TBK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the NF-kappa-B inhibitor family. Chemokine signaling pathway;Apoptosis;Osteoclast differentiation;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;T cell receptor signaling pathway;B cell receptor signaling pathway;Neurotrophin signaling pathway;Adipocytokine signaling pathway;Epithelial cell signaling in Helicobacter pylori infection;Shigellosis;Legionellosis;Leishmaniasis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Hepatitis C;Measles;Influenza A;HTLV-I infection;Herpes simplex infection;Pathways in cancer;Prostate cancer;Chronic myeloid leukemia;Small cell lung cancer;Activation of NF-kappaB in B cells;FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;Downstream TCR signaling;RIP-mediated NFkB activation via ZBP1;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated NF-kB activation;IkBA variant leads to EDA-ID;NF-kB is activated and signals survival;Ub-specific processing proteases;Interleukin-1 signaling;SUMOylation of immune response proteins PE1 14 +NX_P26006 Integrin alpha-3 1051 116612 6.32 1 Invadopodium membrane;Filopodium membrane;Cell membrane Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4. Integrin alpha-3/beta-1 provides a docking site for FAP (seprase) at invadopodia plasma membranes in a collagen-dependent manner and hence may participate in the adhesion, formation of invadopodia and matrix degradation processes, promoting cell invasion. Alpha-3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration. But not isoform 2, is phosphorylated on serine residues. Phosphorylation increases after phorbol 12-myristate 13-acetate stimulation. Belongs to the integrin alpha chain family. Focal adhesion;ECM-receptor interaction;Hematopoietic cell lineage;Regulation of actin cytoskeleton;Pathways in cancer;Small cell lung cancer;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Integrin cell surface interactions;Basigin interactions;Laminin interactions;MET activates PTK2 signaling PE1 17 +NX_P26010 Integrin beta-7 798 86903 5.67 1 Membrane;Cytosol;Cell membrane NA Integrin alpha-4/beta-7 (Peyer patches-specific homing receptor LPAM-1) is an adhesion molecule that mediates lymphocyte migration and homing to gut-associated lymphoid tissue (GALT). Integrin alpha-4/beta-7 interacts with the cell surface adhesion molecules MADCAM1 which is normally expressed by the vascular endothelium of the gastrointestinal tract. Interacts also with VCAM1 and fibronectin, an extracellular matrix component. It recognizes one or more domains within the alternatively spliced CS-1 region of fibronectin. Interactions involves the tripeptide L-D-T in MADCAM1, and L-D-V in fibronectin. Binds to HIV-1 gp120, thereby allowing the virus to enter GALT, which is thought to be the major trigger of AIDS disease. Interaction would involve a tripeptide L-D-I in HIV-1 gp120. Integrin alpha-E/beta-7 (HML-1) is a receptor for E-cadherin. NA Belongs to the integrin beta chain family. Focal adhesion;ECM-receptor interaction;Cell adhesion molecules (CAMs);Intestinal immune network for IgA production;Regulation of actin cytoskeleton;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Integrin cell surface interactions PE1 12 +NX_P26012 Integrin beta-8 769 85632 7.06 1 Cytosol;Cell membrane NA Integrin alpha-V:beta-8 (ITGAV:ITGB8) is a receptor for fibronectin (PubMed:1918072). It recognizes the sequence R-G-D in its ligands (PubMed:1918072). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation on the surface of activated regulatory T-cells (Tregs) (Probable). Required during vasculogenesis (By similarity). NA Belongs to the integrin beta chain family. Focal adhesion;ECM-receptor interaction;Cell adhesion molecules (CAMs);Regulation of actin cytoskeleton;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Integrin cell surface interactions;Molecules associated with elastic fibres PE1 7 +NX_P26022 Pentraxin-related protein PTX3 381 41976 4.94 0 Secreted;Cell membrane NA Plays a role in the regulation of innate resistance to pathogens, inflammatory reactions, possibly clearance of self-components and female fertility. Glycosylated. NA Neutrophil degranulation PE1 3 +NX_P26038 Moesin 577 67820 6.08 0 Cell membrane;Microvillus membrane;Apical cell membrane;Microvillus;Cytoskeleton Immunodeficiency 50 Ezrin-radixin-moesin (ERM) family protein that connects the actin cytoskeleton to the plasma membrane and thereby regulates the structure and function of specific domains of the cell cortex. Tethers actin filaments by oscillating between a resting and an activated state providing transient interactions between moesin and the actin cytoskeleton (PubMed:10212266). Once phosphorylated on its C-terminal threonine, moesin is activated leading to interaction with F-actin and cytoskeletal rearrangement (PubMed:10212266). These rearrangements regulate many cellular processes, including cell shape determination, membrane transport, and signal transduction (PubMed:12387735, PubMed:15039356). The role of moesin is particularly important in immunity acting on both T and B-cells homeostasis and self-tolerance, regulating lymphocyte egress from lymphoid organs (PubMed:9298994, PubMed:9616160). Modulates phagolysosomal biogenesis in macrophages (By similarity). Participates also in immunologic synapse formation (PubMed:27405666). S-nitrosylation of Cys-117 is induced by interferon-gamma and oxidatively-modified low-densitity lipoprotein (LDL(ox)) implicating the iNOS-S100A8/9 transnitrosylase complex.;Phosphorylation on Thr-558 is crucial for the formation of microvilli-like structures. Phosphorylation by ROCK2 suppresses the head-to-tail association of the N-terminal and C-terminal halves resulting in an opened conformation which is capable of actin and membrane-binding (By similarity). Phosphorylation on Thr-558 by STK10 negatively regulates lymphocyte migration and polarization. NA Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Measles;Recycling pathway of L1;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 X +NX_P26045 Tyrosine-protein phosphatase non-receptor type 3 913 103990 6.58 0 Cell membrane;Cytoskeleton NA May act at junctions between the membrane and the cytoskeleton. Possesses tyrosine phosphatase activity. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily. EGFR downregulation PE1 9 +NX_P26196 Probable ATP-dependent RNA helicase DDX6 483 54417 8.85 0 Cytoplasm;Cytosol;P-body;Nucleus NA In the process of mRNA degradation, plays a role in mRNA decapping (PubMed:16364915). Blocks autophagy in nutrient-rich conditions by repressing the expression of ATG-related genes through degradation of their transcripts (PubMed:26098573). Sumoylated (PubMed:26184334). Belongs to the DEAD box helicase family. DDX6/DHH1 subfamily. RNA degradation;mRNA decay by 5' to 3' exoribonuclease PE1 11 +NX_P26232 Catenin alpha-2 953 105313 5.52 0 Cytoplasm;Cell membrane;Adherens junction;Axon;Nucleus;Cytoskeleton Cortical dysplasia, complex, with other brain malformations 9 May function as a linker between cadherin adhesion receptors and the cytoskeleton to regulate cell-cell adhesion and differentiation in the nervous system (By similarity). Required for proper regulation of cortical neuronal migration and neurite growth (PubMed:30013181). It acts as negative regulator of Arp2/3 complex activity and Arp2/3-mediated actin polymerization (PubMed:30013181). It thereby suppresses excessive actin branching which would impair neurite growth and stability (PubMed:30013181). Regulates morphological plasticity of synapses and cerebellar and hippocampal lamination during development. Functions in the control of startle modulation (By similarity). NA Belongs to the vinculin/alpha-catenin family. Adherens junction;Tight junction;Leukocyte transendothelial migration;Bacterial invasion of epithelial cells;Pathways in cancer;Endometrial cancer;Arrhythmogenic right ventricular cardiomyopathy (ARVC);Myogenesis PE1 2 +NX_P26358 DNA (cytosine-5)-methyltransferase 1 1616 183165 7.99 0 Nucleoplasm;Nucleus Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant;Neuropathy, hereditary sensory, 1E Methylates CpG residues. Preferentially methylates hemimethylated DNA. Associates with DNA replication sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for epigenetic inheritance. Associates with chromatin during G2 and M phases to maintain DNA methylation independently of replication. It is responsible for maintaining methylation patterns established in development. DNA methylation is coordinated with methylation of histones. Mediates transcriptional repression by direct binding to HDAC2. In association with DNMT3B and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (PubMed:24623306). Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (PubMed:24623306). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing (PubMed:24623306). Promotes tumor growth (PubMed:24623306). Methylation at Lys-142 by SETD7 promotes DNMT1 proteasomal degradation.;Acetylation on multiple lysines, mainly by KAT2B/PCAF, regulates cell cycle G(2)/M transition. Deacetylation of Lys-1349 and Lys-1415 by SIRT1 increases methyltransferase activity.;Phosphorylation of Ser-154 by CDKs is important for enzymatic activity and protein stability. Phosphorylation of Ser-143 by AKT1 prevents methylation by SETD7 therebye increasing DNMT1 stability.;Sumoylated; sumoylation increases activity.;Ubiquitinated by UHRF1; interaction with USP7 counteracts ubiquitination by UHRF1 by promoting deubiquitination and preventing degradation by the proteasome.;DNMT1 is phosphorylated by PRKCZ (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);DNMT1 is phosphorylated by CDKL5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family. Cysteine and methionine metabolism;Metabolic pathways;NoRC negatively regulates rRNA expression;PRC2 methylates histones and DNA;DNA methylation;SUMOylation of DNA methylation proteins PE1 19 +NX_P26367 Paired box protein Pax-6 422 46683 9.45 0 Nucleoplasm;Nucleus Aniridia 2;Coloboma of optic nerve;Anterior segment dysgenesis 5;Keratitis hereditary;Aniridia 1;Bilateral optic nerve hypoplasia;Coloboma, ocular, autosomal dominant;Foveal hypoplasia 1 Appears to function as a molecular switch that specifies target genes.;Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Ubiquitinated by TRIM11, leading to ubiquitination and proteasomal degradation. Belongs to the paired homeobox family. Maturity onset diabetes of the young;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP);Regulation of gene expression in beta cells;Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 11 +NX_P26368 Splicing factor U2AF 65 kDa subunit 475 53501 9.19 0 Nucleoplasm;Nucleus speckle;Nucleus NA Plays a role in pre-mRNA splicing and 3'-end processing (PubMed:17024186). By recruiting PRPF19 and the PRP19C/Prp19 complex/NTC/Nineteen complex to the RNA polymerase II C-terminal domain (CTD), and thereby pre-mRNA, may couple transcription to splicing (PubMed:21536736). Induces cardiac troponin-T (TNNT2) pre-mRNA exon inclusion in muscle. Regulates the TNNT2 exon 5 inclusion through competition with MBNL1. Binds preferentially to a single-stranded structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Required for the export of mRNA out of the nucleus, even if the mRNA is encoded by an intron-less gene. Represses the splicing of MAPT/Tau exon 10. Positively regulates pre-mRNA 3'-end processing by recruiting the CFIm complex to cleavage and polyadenylation signals (PubMed:17024186). Lysyl-hydroxylation at Lys-15 and Lys-276 affects the mRNA splicing activity of the protein, leading to regulate some, but not all, alternative splicing events.;U2AF2 is phosphorylated by SRPK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the splicing factor SR family. Spliceosome;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 19 +NX_P26371 Keratin-associated protein 5-9 169 16276 8.34 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 5 family. Keratinization PE1 11 +NX_P26373 60S ribosomal protein L13 211 24261 11.65 0 Endoplasmic reticulum;Cytoplasm;Cytosol;Nucleolus NA NA NA Belongs to the eukaryotic ribosomal protein eL13 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 16 +NX_P26374 Rab proteins geranylgeranyltransferase component A 2 656 74071 4.84 0 Nucleoplasm;Cytosol NA Substrate-binding subunit (component A) of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Less effective than CHM in supporting prenylation of Rab3 family. NA Belongs to the Rab GDI family. RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 1 +NX_P26378 ELAV-like protein 4 385 42398 9.44 0 Cytoplasm;Perikaryon;Growth cone;Nucleoplasm;Cytoplasmic vesicle;Axon;Dendrite NA RNA-binding protein that is involved in the post-transcriptional regulation of mRNAs (PubMed:7898713, PubMed:10710437, PubMed:12034726, PubMed:12468554, PubMed:17035636, PubMed:17234598). Plays a role in the regulation of mRNA stability, alternative splicing and translation (PubMed:7898713, PubMed:10710437, PubMed:12034726, PubMed:12468554, PubMed:17035636, PubMed:17234598). Binds to AU-rich element (ARE) sequences in the 3' untranslated region (UTR) of target mRNAs, including GAP43, VEGF, FOS, CDKN1A and ACHE mRNA (PubMed:7898713, PubMed:10710437, PubMed:12034726, PubMed:12468554). Many of the target mRNAs are coding for RNA-binding proteins, transcription factors and proteins involved in RNA processing and/or neuronal development and function (By similarity). By binding to the mRNA 3'UTR, decreases mRNA deadenylation and thereby contributes to the stabilization of mRNA molecules and their protection from decay (PubMed:12034726). Also binds to the polyadenylated (poly(A)) tail in the 3'UTR of mRNA, thereby increasing its affinity for mRNA binding (PubMed:12034726). Mainly plays a role in neuron-specific RNA processing by stabilization of mRNAs such as GAP43, ACHE and mRNAs of other neuronal proteins, thereby contributing to the differentiation of neural progenitor cells, nervous system development, learning and memory mechanisms (PubMed:12034726, PubMed:12468554, PubMed:17234598, PubMed:18218628). Involved in the negative regulation of the proliferative activity of neuronal stem cells and in the positive regulation of neuronal differentiation of neural progenitor cells (By similarity). Promotes neuronal differentiation of neural stem/progenitor cells in the adult subventricular zone of the hippocampus by binding to and stabilizing SATB1 mRNA (By similarity). Binds and stabilizes MSI1 mRNA in neural stem cells (By similarity). Exhibits increased binding to ACHE mRNA during neuronal differentiation, thereby stabilizing ACHE mRNA and enhancing its expression (PubMed:12468554, PubMed:17234598). Protects CDKN1A mRNA from decay by binding to its 3'-UTR (By similarity). May bind to APP and BACE1 mRNAS and the BACE1AS lncRNA and enhance their stabilization (PubMed:24857657). Plays a role in neurite outgrowth and in the establishment and maturation of dendritic arbors, thereby contributing to neocortical and hippocampal circuitry function (By similarity). Stabilizes GAP43 mRNA and protects it from decay during postembryonic development in the brain (PubMed:12034726). By promoting the stabilization of GAP43 mRNA, plays a role in NGF-mediated neurite outgrowth (By similarity). Binds to BDNF long 3'UTR mRNA, thereby leading to its stabilization and increased dendritic translation after activation of PKC (By similarity). By increasing translation of BDNF after nerve injury, may contribute to nerve regeneration (By similarity). Acts as a stabilizing factor by binding to the 3'UTR of NOVA1 mRNA, thereby increasing its translation and enhancing its functional activity in neuron-specific splicing (PubMed:18218628). Stimulates translation of mRNA in a poly(A)- and cap-dependent manner, possibly by associating with the EIF4F cap-binding complex (By similarity). May also negatively regulate translation by binding to the 5'UTR of Ins2 mRNA, thereby repressing its translation (By similarity). Upon glucose stimulation, Ins2 mRNA is released from ELAVL4 and translational inhibition is abolished (By similarity). Also plays a role in the regulation of alternative splicing (PubMed:17035636). May regulate alternative splicing of CALCA pre-mRNA into Calcitonin and Calcitonin gene-related peptide 1 (CGRP) by competing with splicing regulator TIAR for binding to U-rich intronic sequences of CALCA pre-mRNA (PubMed:17035636). Methylated by CARM1, which leads to reduced RNA-binding activity and enhanced interaction with SMN (PubMed:21088113). Methylation at Arg-248 by CARM1 weakens protective binding to the 3'UTR of CDKN1A mRNA and down-regulates CDKN1A protein expression, thereby maintaining cells in a proliferative state (By similarity). Methylation is inhibited by NGF, which facilitates neurite outgrowth (By similarity). Belongs to the RRM elav family. NA PE1 1 +NX_P26436 Acrosomal protein SP-10 265 28156 4.68 0 Acrosome NA NA NA NA NA PE1 11 +NX_P26439 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 372 42052 8.12 1 Mitochondrion membrane;Endoplasmic reticulum membrane Adrenal hyperplasia 2 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. NA Belongs to the 3-beta-HSD family. Lipid metabolism; steroid biosynthesis.;Steroid hormone biosynthesis;Metabolic pathways;Glucocorticoid biosynthesis;Androgen biosynthesis;Mineralocorticoid biosynthesis PE1 1 +NX_P26440 Isovaleryl-CoA dehydrogenase, mitochondrial 426 46651 8.27 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion Isovaleric acidemia NA NA Belongs to the acyl-CoA dehydrogenase family. Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 1/3.;Valine, leucine and isoleucine degradation;Metabolic pathways;Branched-chain amino acid catabolism PE1 15 +NX_P26441 Ciliary neurotrophic factor 200 22931 6.35 0 Cytoplasmic vesicle;Cytoplasm NA CNTF is a survival factor for various neuronal cell types. Seems to prevent the degeneration of motor axons after axotomy. NA Belongs to the CNTF family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;IL-6-type cytokine receptor ligand interactions PE1 11 +NX_P26447 Protein S100-A4 101 11729 5.85 0 Cell membrane NA NA NA Belongs to the S-100 family. NA PE1 1 +NX_P26572 Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 445 50878 9.25 1 Golgi apparatus membrane NA Initiates complex N-linked carbohydrate formation. Essential for the conversion of high-mannose to hybrid and complex N-glycans. NA Belongs to the glycosyltransferase 13 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;N-glycan trimming and elongation in the cis-Golgi PE1 5 +NX_P26583 High mobility group protein B2 209 24034 7.62 0 Cytoplasm;Secreted;Nucleolus;Chromosome;Nucleoplasm;Nucleus NA Multifunctional protein with various roles in different cellular compartments. May act in a redox sensitive manner. In the nucleus is an abundant chromatin-associated non-histone protein involved in transcription, chromatin remodeling and V(D)J recombination and probably other processes. Binds DNA with a preference to non-canonical DNA structures such as single-stranded DNA. Can bent DNA and enhance DNA flexibility by looping thus providing a mechanism to promote activities on various gene promoters by enhancing transcription factor binding and/or bringing distant regulatory sequences into close proximity (PubMed:7797075, PubMed:11909973, PubMed:19522541, PubMed:18413230, PubMed:19965638, PubMed:20123072). Involved in V(D)J recombination by acting as a cofactor of the RAG complex: acts by stimulating cleavage and RAG protein binding at the 23 bp spacer of conserved recombination signal sequences (RSS) (By similarity). Proposed to be involved in the innate immune response to nucleic acids by acting as a promiscuous immunogenic DNA/RNA sensor which cooperates with subsequent discriminative sensing by specific pattern recognition receptors (By similarity). In the extracellular compartment acts as a chemokine. Promotes proliferation and migration of endothelial cells implicating AGER/RAGE (PubMed:19811285). Has antimicrobial activity in gastrointestinal epithelial tissues (PubMed:23877675). Involved in inflammatory response to antigenic stimulus coupled with proinflammatory activity (By similarity). Involved in modulation of neurogenesis probably by regulation of neural stem proliferation (By similarity). Involved in articular cartilage surface maintenance implicating LEF1 and the Wnt/beta-catenin pathway (By similarity). Reduction/oxidation of cysteine residues Cys-23, Cys-45 and Cys-106 and a possible intramolecular disulfide bond involving Cys-23 and Cys-45 give rise to different redox forms with specific functional activities in various cellular compartments: 1- fully reduced HMGB2 (HMGB2C23hC45hC106h), 2- disulfide HMGB2 (HMGB2C23-C45C106h) and 3- sulfonyl HMGB2 (HMGB2C23soC45soC106so).;Acetylation enhances nucleosome binding and chromation remodeling activity. Belongs to the HMGB family. Apoptosis induced DNA fragmentation PE1 4 +NX_P26599 Polypyrimidine tract-binding protein 1 531 57221 9.22 0 Nucleoplasm;Nucleus NA Plays a role in pre-mRNA splicing and in the regulation of alternative splicing events. Activates exon skipping of its own pre-mRNA during muscle cell differentiation. Binds to the polypyrimidine tract of introns. May promote RNA looping when bound to two separate polypyrimidine tracts in the same pre-mRNA. May promote the binding of U2 snRNP to pre-mRNA. Cooperates with RAVER1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA. Represses the splicing of MAPT/Tau exon 10 (PubMed:15009664). In case of infection by picornaviruses, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation (PubMed:21518806). NA NA mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA;FGFR2 alternative splicing PE1 19 +NX_P26639 Threonine--tRNA ligase 1, cytoplasmic 723 83435 6.23 0 Cytoplasm;Cytosol;Cytoskeleton NA Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr) (PubMed:25824639). Also edits incorrectly charged tRNA(Thr) via its editing domain, at the post-transfer stage (By similarity). ISGylated. Belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Cytosolic tRNA aminoacylation PE1 5 +NX_P26640 Valine--tRNA ligase 1264 140476 7.53 0 Cytosol Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy NA NA Belongs to the class-I aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Cytosolic tRNA aminoacylation PE1 6 +NX_P26641 Elongation factor 1-gamma 437 50119 6.25 0 Cytoplasm;Mitochondrion NA Probably plays a role in anchoring the complex to other cellular components. NA NA Legionellosis;Eukaryotic Translation Elongation PE1 11 +NX_P26651 mRNA decay activator protein ZFP36 326 34003 8.86 0 Cytoplasm;P-body;Cytoplasmic granule;Nucleus;Cytoskeleton NA Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis (PubMed:9703499, PubMed:10330172, PubMed:10751406, PubMed:11279239, PubMed:12115244, PubMed:12748283, PubMed:15187101, PubMed:15634918, PubMed:17030620, PubMed:16702957, PubMed:20702587, PubMed:20221403, PubMed:21775632, PubMed:27193233, PubMed:23644599, PubMed:25815583). Acts as an 3'-untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signaling events to the mRNA decay machinery (PubMed:15687258, PubMed:23644599). Recruits deadenylase CNOT7 (and probably the CCR4-NOT complex) via association with CNOT1, and hence promotes ARE-mediated mRNA deadenylation (PubMed:23644599). Functions also by recruiting components of the cytoplasmic RNA decay machinery to the bound ARE-containing mRNAs (PubMed:11719186, PubMed:12748283, PubMed:15687258, PubMed:16364915). Self regulates by destabilizing its own mRNA (PubMed:15187101). Binds to 3'-UTR ARE of numerous mRNAs and of its own mRNA (PubMed:10330172, PubMed:10751406, PubMed:12115244, PubMed:15187101, PubMed:15634918, PubMed:17030620, PubMed:16702957, PubMed:19188452, PubMed:20702587, PubMed:20221403, PubMed:21775632, PubMed:25815583). Plays a role in anti-inflammatory responses; suppresses tumor necrosis factor (TNF)-alpha production by stimulating ARE-mediated TNF-alpha mRNA decay and several other inflammatory ARE-containing mRNAs in interferon (IFN)- and/or lipopolysaccharide (LPS)-induced macrophages (By similarity). Plays also a role in the regulation of dendritic cell maturation at the post-transcriptional level, and hence operates as part of a negative feedback loop to limit the inflammatory response (PubMed:18367721). Promotes ARE-mediated mRNA decay of hypoxia-inducible factor HIF1A mRNA during the response of endothelial cells to hypoxia (PubMed:21775632). Positively regulates early adipogenesis of preadipocytes by promoting ARE-mediated mRNA decay of immediate early genes (IEGs) (By similarity). Negatively regulates hematopoietic/erythroid cell differentiation by promoting ARE-mediated mRNA decay of the transcription factor STAT5B mRNA (PubMed:20702587). Plays a role in maintaining skeletal muscle satellite cell quiescence by promoting ARE-mediated mRNA decay of the myogenic determination factor MYOD1 mRNA (By similarity). Associates also with and regulates the expression of non-ARE-containing target mRNAs at the post-transcriptional level, such as MHC class I mRNAs (PubMed:18367721). Participates in association with argonaute RISC catalytic components in the ARE-mediated mRNA decay mechanism; assists microRNA (miRNA) targeting ARE-containing mRNAs (PubMed:15766526). May also play a role in the regulation of cytoplasmic mRNA decapping; enhances decapping of ARE-containing RNAs, in vitro (PubMed:16364915). Involved in the delivery of target ARE-mRNAs to processing bodies (PBs) (PubMed:17369404). In addition to its cytosolic mRNA-decay function, affects nuclear pre-mRNA processing (By similarity). Negatively regulates nuclear poly(A)-binding protein PABPN1-stimulated polyadenylation activity on ARE-containing pre-mRNA during LPS-stimulated macrophages (By similarity). Also involved in the regulation of stress granule (SG) and P-body (PB) formation and fusion (By similarity). Plays a role in the regulation of keratinocyte proliferation, differentiation and apoptosis (PubMed:27182009). Plays a role as a tumor suppressor by inhibiting cell proliferation in breast cancer cells (PubMed:26926077).;(Microbial infection) Negatively regulates HTLV-1 TAX-dependent transactivation of viral long terminal repeat (LTR) promoter. Phosphorylated. Phosphorylation at serine and/or threonine residues occurs in a p38 MAPK- and MAPKAPK2-dependent manner (PubMed:16702957). Phosphorylated by MAPKAPK2 at Ser-60 and Ser-186; phosphorylation increases its stability and cytoplasmic localization, promotes binding to 14-3-3 adapter proteins and inhibits the recruitment of cytoplasmic CCR4-NOT and PAN2-PAN3 deadenylase complexes to the mRNA decay machinery, thereby inhibiting ZFP36-induced ARE-containing mRNA deadenylation and decay processes. Phosphorylation by MAPKAPK2 does not impair ARE-containing RNA-binding. Phosphorylated in a MAPKAPK2- and p38 MAPK-dependent manner upon skeletal muscle satellite cell activation; this phosphorylation inhibits ZFP36-mediated mRNA decay activity, and hence stabilizes MYOD1 mRNA (By similarity). Phosphorylated by MAPK1 upon mitogen stimulation (By similarity). Phosphorylated at Ser-66 and Ser-93; these phosphorylations increase in a SH3KBP1-dependent manner (PubMed:20221403). Phosphorylated at serine and threonine residues in a pyruvate kinase PKM- and p38 MAPK-dependent manner (PubMed:26926077). Phosphorylation at Ser-60 may participate in the PKM-mediated degradation of ZFP36 in a p38 MAPK-dependent manner (PubMed:26926077). Dephosphorylated by serine/threonine phosphatase 2A at Ser-186 (By similarity).;Ubiquitinated; pyruvate kinase (PKM)-dependent ubiquitination leads to proteasomal degradation through a p38 MAPK signaling pathway (PubMed:26926077). NA HTLV-I infection;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA PE1 19 +NX_P26678 Cardiac phospholamban 52 6109 9.5 1 Mitochondrion membrane;Membrane;Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane Cardiomyopathy, dilated 1P;Cardiomyopathy, familial hypertrophic 18 Reversibly inhibits the activity of ATP2A2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). Modulates the contractility of the heart muscle in response to physiological stimuli via its effects on ATP2A2. Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in the heart muscle. The degree of ATP2A2 inhibition depends on the oligomeric state of PLN. ATP2A2 inhibition is alleviated by PLN phosphorylation. Palmitoylated by ZDHHC16, promoting formation of the homopentamer.;Phosphorylation by PKA abolishes the inhibition of ATP2A2-mediated calcium uptake. Phosphorylated at Thr-17 by CaMK2, and in response to beta-adrenergic stimulation. Phosphorylation by DMPK may stimulate sarcoplasmic reticulum calcium uptake in cardiomyocytes. Belongs to the phospholamban family. Calcium signaling pathway;Dilated cardiomyopathy;Ion transport by P-type ATPases;Ion homeostasis PE1 6 +NX_P26715 NKG2-A/NKG2-B type II integral membrane protein 233 26314 8.53 1 Membrane NA Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells. NA NA Antigen processing and presentation;Natural killer cell mediated cytotoxicity;Graft-versus-host disease;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 12 +NX_P26717 NKG2-C type II integral membrane protein 231 26072 8.69 1 Membrane NA Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells. NA NA Antigen processing and presentation;Natural killer cell mediated cytotoxicity;DAP12 signaling;DAP12 interactions PE1 12 +NX_P26718 NKG2-D type II integral membrane protein 216 25274 8.56 1 Cell membrane NA Function as an activating and costimulatory receptor involved in immunosurveillance upon binding to various cellular stress-inducible ligands displayed at the surface of autologous tumor cells and virus-infected cells. Provides both stimulatory and costimulatory innate immune responses on activated killer (NK) cells, leading to cytotoxic activity. Acts as a costimulatory receptor for T-cell receptor (TCR) in CD8(+) T-cell-mediated adaptive immune responses by amplifying T-cell activation. Stimulates perforin-mediated elimination of ligand-expressing tumor cells. Signaling involves calcium influx, culminating in the expression of TNF-alpha. Participates in NK cell-mediated bone marrow graft rejection. May play a regulatory role in differentiation and survival of NK cells. Binds to ligands belonging to various subfamilies of MHC class I-related glycoproteins including MICA, MICB, RAET1E, RAET1G, RAET1L/ULBP6, ULBP1, ULBP2, ULBP3 (ULBP2>ULBP1>ULBP3) and ULBP4. NA NA Natural killer cell mediated cytotoxicity;Malaria;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;DAP12 signaling;DAP12 interactions PE1 12 +NX_P26842 CD27 antigen 260 29137 7.8 1 Membrane Lymphoproliferative syndrome 2 Receptor for CD70/CD27L. May play a role in survival of activated T-cells. May play a role in apoptosis through association with SIVA1. O-glycosylated with core 1 or possibly core 8 glycans.;Phosphorylated. NA Cytokine-cytokine receptor interaction;TNFs bind their physiological receptors PE1 12 +NX_P26885 Peptidyl-prolyl cis-trans isomerase FKBP2 142 15649 9.24 0 Endoplasmic reticulum membrane;Cell membrane NA PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. NA Belongs to the FKBP-type PPIase family. FKBP2 subfamily. NA PE1 11 +NX_P26927 Hepatocyte growth factor-like protein 711 80320 7.98 0 Secreted NA NA Cleaved after Arg-483, probably by HPN/Hepsin, to yield the active form consisting of two disulfide-linked chains. Belongs to the peptidase S1 family. Plasminogen subfamily. Signaling by MST1 PE1 3 +NX_P26951 Interleukin-3 receptor subunit alpha 378 43330 8.6 1 Membrane;Cell membrane NA This is a receptor for interleukin-3. NA Belongs to the type I cytokine receptor family. Type 5 subfamily. Cytokine-cytokine receptor interaction;Apoptosis;Jak-STAT signaling pathway;Hematopoietic cell lineage;RAF/MAP kinase cascade;Interleukin receptor SHC signaling;Interleukin-3, Interleukin-5 and GM-CSF signaling PE1 X +NX_P26992 Ciliary neurotrophic factor receptor subunit alpha 372 40633 6.26 0 Cell membrane NA Binds to CNTF. The alpha subunit provides the receptor specificity. Receptor for heterodimeric neurotropic cytokine composed of CLCF1/CLC and CRLF1/CLF-1 (PubMed:26858303). NA Belongs to the type I cytokine receptor family. Type 3 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;IL-6-type cytokine receptor ligand interactions PE1 9 +NX_P26998 Beta-crystallin B3 211 24252 6.25 0 NA Cataract 22, multiple types Crystallins are the dominant structural components of the vertebrate eye lens. NA Belongs to the beta/gamma-crystallin family. NA PE1 22 +NX_P27037 Activin receptor type-2A 513 57848 5.61 1 Membrane;Cytosol NA On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A. Mediates induction of adipogenesis by GDF6 (By similarity). NA Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Cytokine-cytokine receptor interaction;TGF-beta signaling pathway;Signaling by BMP;Signaling by NODAL;Signaling by Activin;Regulation of signaling by NODAL PE1 2 +NX_P27105 Erythrocyte band 7 integral membrane protein 288 31731 7.71 0 Cell membrane;Melanosome;Cytoplasmic vesicle;Cytosol;Membrane raft;Cytoskeleton NA Regulates ion channel activity and transmembrane ion transport. Regulates ASIC2 and ASIC3 channel activity. NA Belongs to the band 7/mec-2 family. Stimuli-sensing channels;Neutrophil degranulation PE1 9 +NX_P27144 Adenylate kinase 4, mitochondrial 223 25268 8.47 0 Mitochondrion matrix;Mitochondrion NA Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates (PubMed:19073142, PubMed:19766732, PubMed:23416111, PubMed:24767988). Efficiently phosphorylates AMP and dAMP using ATP as phosphate donor, but phosphorylates only AMP when using GTP as phosphate donor (PubMed:19073142, PubMed:19766732, PubMed:23416111). Also displays broad nucleoside diphosphate kinase activity (PubMed:19073142, PubMed:19766732, PubMed:23416111). Plays a role in controlling cellular ATP levels by regulating phosphorylation and activation of the energy sensor protein kinase AMPK (PubMed:24767988, PubMed:26980435). Plays a protective role in the cellular response to oxidative stress (PubMed:19130895, PubMed:23474458, PubMed:26980435). NA Belongs to the adenylate kinase family. AK3 subfamily. Purine metabolism;Metabolic pathways;Interconversion of nucleotide di- and triphosphates PE1 1 +NX_P27169 Serum paraoxonase/arylesterase 1 355 39731 5.08 0 Extracellular space Microvascular complications of diabetes 5 Hydrolyzes the toxic metabolites of a variety of organophosphorus insecticides. Capable of hydrolyzing a broad spectrum of organophosphate substrates and lactones, and a number of aromatic carboxylic acid esters. Mediates an enzymatic protection of low density lipoproteins against oxidative modification and the consequent series of events leading to atheroma formation. Glycosylated.;The signal sequence is not cleaved.;Present in two forms, form B contains a disulfide bond, form A does not. Belongs to the paraoxonase family. Metabolic pathways;Synthesis of 5-eicosatetraenoic acids PE1 7 +NX_P27216 Annexin A13 316 35415 5.47 0 Cytoplasmic vesicle;Nucleoplasm;Apical cell membrane;Cell membrane NA Binds to membranes enriched in phosphatidylserine or phosphatidylglycerol in a calcium-dependent manner (PubMed:27676605, PubMed:30610115). Half-maximal membrane binding requires about 60 uM calcium. Does not bind to membranes that lack phospholipids with an acidic headgroup (PubMed:27676605).;Binds to membranes enriched in phosphatidylserine or phosphatidylglycerol in a calcium-dependent manner, but requires higher calcium levels for membrane binding than isoform A. Half-maximal membrane binding requires about 320 uM calcium. NA Belongs to the annexin family. NA PE1 8 +NX_P27338 Amine oxidase [flavin-containing] B 520 58763 7.2 1 Mitochondrion outer membrane NA Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOB preferentially degrades benzylamine and phenylethylamine. NA Belongs to the flavin monoamine oxidase family. Glycine, serine and threonine metabolism;Arginine and proline metabolism;Histidine metabolism;Tyrosine metabolism;Phenylalanine metabolism;Tryptophan metabolism;Drug metabolism - cytochrome P450;Metabolic pathways;Dopaminergic synapse;Biogenic amines are oxidatively deaminated to aldehydes by MAOA and MAOB PE1 X +NX_P27348 14-3-3 protein theta 245 27764 4.68 0 Cytoplasm NA Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1. Ser-232 is probably phosphorylated by CK1. Belongs to the 14-3-3 family. Cell cycle;Oocyte meiosis;Neurotrophin signaling pathway;Pathogenic Escherichia coli infection;Translocation of SLC2A4 (GLUT4) to the plasma membrane;TP53 Regulates Metabolic Genes;Activation of BAD and translocation to mitochondria;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;RHO GTPases activate PKNs;Regulation of localization of FOXO transcription factors PE1 2 +NX_P27352 Cobalamin binding intrinsic factor 417 45416 5.8 0 Secreted Hereditary intrinsic factor deficiency Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the CBLIF-cobalamin complex is internalized via receptor-mediated endocytosis. NA Belongs to the eukaryotic cobalamin transport proteins family. Vitamin digestion and absorption;Cobalamin (Cbl, vitamin B12) transport and metabolism;Defective AMN causes hereditary megaloblastic anemia 1;Defective CUBN causes hereditary megaloblastic anemia 1;Defective GIF causes intrinsic factor deficiency PE1 11 +NX_P27361 Mitogen-activated protein kinase 3 379 43136 6.28 0 Cytoplasm;Nucleoplasm;Caveola;Nucleus NA Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays also a role in initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors. About 160 substrates have already been discovered for ERKs. Many of these substrates are localized in the nucleus, and seem to participate in the regulation of transcription upon stimulation. However, other substrates are found in the cytosol as well as in other cellular organelles, and those are responsible for processes such as translation, mitosis and apoptosis. Moreover, the MAPK/ERK cascade is also involved in the regulation of the endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC); as well as in the fragmentation of the Golgi apparatus during mitosis. The substrates include transcription factors (such as ATF2, BCL6, ELK1, ERF, FOS, HSF4 or SPZ1), cytoskeletal elements (such as CANX, CTTN, GJA1, MAP2, MAPT, PXN, SORBS3 or STMN1), regulators of apoptosis (such as BAD, BTG2, CASP9, DAPK1, IER3, MCL1 or PPARG), regulators of translation (such as EIF4EBP1) and a variety of other signaling-related molecules (like ARHGEF2, FRS2 or GRB10). Protein kinases (such as RAF1, RPS6KA1/RSK1, RPS6KA3/RSK2, RPS6KA2/RSK3, RPS6KA6/RSK4, SYK, MKNK1/MNK1, MKNK2/MNK2, RPS6KA5/MSK1, RPS6KA4/MSK2, MAPKAPK3 or MAPKAPK5) and phosphatases (such as DUSP1, DUSP4, DUSP6 or DUSP16) are other substrates which enable the propagation the MAPK/ERK signal to additional cytosolic and nuclear targets, thereby extending the specificity of the cascade. Phosphorylated upon KIT and FLT3 signaling (By similarity). Dually phosphorylated on Thr-202 and Tyr-204, which activates the enzyme. Ligand-activated ALK induces tyrosine phosphorylation. Dephosphorylated by PTPRJ at Tyr-204. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. MAPK signaling pathway;ErbB signaling pathway;Chemokine signaling pathway;Oocyte meiosis;mTOR signaling pathway;Vascular smooth muscle contraction;Dorso-ventral axis formation;TGF-beta signaling pathway;Axon guidance;VEGF signaling pathway;Osteoclast differentiation;Focal adhesion;Adherens junction;Gap junction;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Long-term potentiation;Neurotrophin signaling pathway;Glutamatergic synapse;Cholinergic synapse;Long-term depression;Regulation of actin cytoskeleton;Insulin signaling pathway;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;Type II diabetes mellitus;Aldosterone-regulated sodium reabsorption;Alzheimer's disease;Prion diseases;Shigellosis;Salmonella infection;Pertussis;Leishmaniasis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Hepatitis C;Influenza A;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Thyroid cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer;ISG15 antiviral mechanism;Regulation of HSF1-mediated heat shock response;RAF/MAP kinase cascade;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Oxidative Stress Induced Senescence;FCERI mediated MAPK activation;Signal transduction by L1;Advanced glycosylation endproduct receptor signaling;Senescence-Associated Secretory Phenotype (SASP);RNA Polymerase I Promoter Opening;RAF-independent MAPK1/3 activation;Negative regulation of MAPK pathway;MAP2K and MAPK activation;Growth hormone receptor signaling;Thrombin signalling through proteinase activated receptors (PARs);Oncogene Induced Senescence;RSK activation;Gastrin-CREB signalling pathway via PKC and MAPK;NCAM signaling for neurite out-growth;MAPK3 (ERK1) activation;Golgi Cisternae Pericentriolar Stack Reorganization;Signal attenuation;Spry regulation of FGF signaling;RHO GTPases Activate NADPH Oxidases;ERK/MAPK targets;Activation of the AP-1 family of transcription factors;ERKs are inactivated;Frs2-mediated activation;Negative feedback regulation of MAPK pathway;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;Regulation of PTEN gene transcription;RUNX2 regulates osteoblast differentiation;ESR-mediated signaling;Estrogen-dependent nuclear events downstream of ESR-membrane signaling;Regulation of the apoptosome activity PE1 16 +NX_P27448 MAP/microtubule affinity-regulating kinase 3 753 84429 9.59 0 Cytoplasm;Dendrite;Cell membrane Visual impairment and progressive phthisis bulbi Serine/threonine-protein kinase (PubMed:23666762). Involved in the specific phosphorylation of microtubule-associated proteins for MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Phosphorylates CDC25C on 'Ser-216'. Regulates localization and activity of some histone deacetylases by mediating phosphorylation of HDAC7, promoting subsequent interaction between HDAC7 and 14-3-3 and export from the nucleus (PubMed:16980613). Negatively regulates the Hippo signaling pathway and antagonizes the phosphorylation of LATS1. Cooperates with DLG5 to inhibit the kinase activity of STK3/MST2 toward LATS1 (PubMed:28087714). Phosphorylated at Thr-211 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Phosphorylation at Thr-564 by PRKCZ/aPKC inhibits the kinase activity.;MARK3 is phosphorylated by PIM1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily. Negative regulation of MAPK pathway;RAF activation;MAP2K and MAPK activation;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 14 +NX_P27449 V-type proton ATPase 16 kDa proteolipid subunit 155 15736 7.98 4 Vacuole membrane;Cytosol NA Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. Ubiquitinated by RNF182, leading to its degradation via the ubiquitin-proteasome pathway. Belongs to the V-ATPase proteolipid subunit family. Oxidative phosphorylation;Metabolic pathways;Lysosome;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Tuberculosis;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport;Neutrophil degranulation PE1 16 +NX_P27469 G0/G1 switch protein 2 103 11321 9.73 0 Mitochondrion NA Promotes apoptosis by binding to BCL2, hence preventing the formation of protective BCL2-BAX heterodimers. NA NA PPARA activates gene expression PE1 1 +NX_P27482 Calmodulin-like protein 3 149 16891 4.3 0 NA NA May function as a specific light chain of unconventional myosin-10 (MYO10), also enhances MYO10 translation, possibly by acting as a chaperone for the emerging MYO10 heavy chain protein. May compete with calmodulin by binding, with different affinities, to cellular substrates. NA Belongs to the calmodulin family. Calcium signaling pathway;Phosphatidylinositol signaling system;Oocyte meiosis;Vascular smooth muscle contraction;Long-term potentiation;Neurotrophin signaling pathway;Dopaminergic synapse;Olfactory transduction;Phototransduction;Insulin signaling pathway;GnRH signaling pathway;Melanogenesis;Salivary secretion;Gastric acid secretion;Alzheimer's disease;Pertussis;Tuberculosis;Glioma PE1 10 +NX_P27487 Dipeptidyl peptidase 4 766 88279 5.67 1 Cell membrane;Cell junction;Secreted;Lamellipodium membrane;Invadopodium membrane;Apical cell membrane;Membrane raft NA Cell surface glycoprotein receptor involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Acts as a positive regulator of T-cell coactivation, by binding at least ADA, CAV1, IGF2R, and PTPRC. Its binding to CAV1 and CARD11 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Its interaction with ADA also regulates lymphocyte-epithelial cell adhesion. In association with FAP is involved in the pericellular proteolysis of the extracellular matrix (ECM), the migration and invasion of endothelial cells into the ECM. May be involved in the promotion of lymphatic endothelial cells adhesion, migration and tube formation. When overexpressed, enhanced cell proliferation, a process inhibited by GPC3. Acts also as a serine exopeptidase with a dipeptidyl peptidase activity that regulates various physiological processes by cleaving peptides in the circulation, including many chemokines, mitogenic growth factors, neuropeptides and peptide hormones. Removes N-terminal dipeptides sequentially from polypeptides having unsubstituted N-termini provided that the penultimate residue is proline. N- and O-Glycosylated.;The soluble form (Dipeptidyl peptidase 4 soluble form also named SDPP) derives from the membrane form (Dipeptidyl peptidase 4 membrane form also named MDPP) by proteolytic processing.;Phosphorylated. Mannose 6-phosphate residues in the carbohydrate moiety are necessary for interaction with IGF2R in activated T-cells. Mannose 6-phosphorylation is induced during T-cell activation. Belongs to the peptidase S9B family. DPPIV subfamily. Protein digestion and absorption;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) PE1 2 +NX_P27539 Embryonic growth/differentiation factor 1 372 39475 9.51 0 Secreted Congenital heart defects, multiple types, 6;Conotruncal heart malformations;Right atrial isomerism;Tetralogy of Fallot May mediate cell differentiation events during embryonic development. NA Belongs to the TGF-beta family. Signaling by NODAL PE1 19 +NX_P27540 Aryl hydrocarbon receptor nuclear translocator 789 86636 6.11 0 Nucleoplasm;Nucleus NA Required for activity of the Ah (dioxin) receptor. This protein is required for the ligand-binding subunit to translocate from the cytosol to the nucleus after ligand binding. The complex then initiates transcription of genes involved in the activation of PAH procarcinogens. The heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters and functions as a transcriptional regulator of the adaptive response to hypoxia (By similarity). The heterodimer ARNT:AHR binds to core DNA sequence 5'-TGCGTG-3' within the dioxin response element (DRE) of target gene promoters and activates their transcription (PubMed:28396409). NA NA Pathways in cancer;Renal cell carcinoma;Xenobiotics;PPARA activates gene expression;Regulation of gene expression by Hypoxia-inducible Factor;Endogenous sterols;Phase I - Functionalization of compounds;Aryl hydrocarbon receptor signalling PE1 1 +NX_P27544 Ceramide synthase 1 350 39536 9.17 6 Endoplasmic reticulum;Endoplasmic reticulum membrane Epilepsy, progressive myoclonic 8 Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA). Acetylated. Deacetylation by SIRT3 increases enzyme activity and promotes mitochondrial ceramide accumulation. NA Lipid metabolism; sphingolipid metabolism.;Sphingolipid de novo biosynthesis PE1 19 +NX_P27635 60S ribosomal protein L10 214 24604 10.11 0 Nucleus Autism, X-linked 5;Mental retardation, X-linked, syndromic, 35 Component of the large ribosomal subunit (PubMed:26290468). Plays a role in the formation of actively translating ribosomes (PubMed:26290468). May play a role in the embryonic brain development (PubMed:25316788). Citrullinated by PADI4.;RPL10 is phosphorylated by YES1 Belongs to the universal ribosomal protein uL16 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 X +NX_P27658 Collagen alpha-1(VIII) chain 744 73364 9.62 0 Cytoplasmic vesicle;Basement membrane NA Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis.;Vastatin, the C-terminal fragment comprising the NC1 domain, inhibits aortic endothelial cell proliferation and causes cell apoptosis. Proteolytically cleaved by neutrophil elastase, in vitro. Proteolytic processing produces the C-terminal NC1 domain fragment, vastatin.;Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. NA Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;Assembly of collagen fibrils and other multimeric structures;Collagen chain trimerization PE1 3 +NX_P27694 Replication protein A 70 kDa DNA-binding subunit 616 68138 6.92 0 Nucleoplasm;PML body;Nucleus NA As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates, that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism (PubMed:27723720, PubMed:27723717). Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage (PubMed:9430682). In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruitment of ATRIP activates the ATR kinase a master regulator of the DNA damage response (PubMed:24332808). It is required for the recruitment of the DNA double-strand break repair factors RAD51 and RAD52 to chromatin in response to DNA damage (PubMed:17765923). Also recruits to sites of DNA damage proteins like XPA and XPG that are involved in nucleotide excision repair and is required for this mechanism of DNA repair (PubMed:7697716). Plays also a role in base excision repair (BER) probably through interaction with UNG (PubMed:9765279). Also recruits SMARCAL1/HARP, which is involved in replication fork restart, to sites of DNA damage. May also play a role in telomere maintenance (PubMed:17959650). As part of the alternative replication protein A complex, aRPA, binds single-stranded DNA and probably plays a role in DNA repair. Compared to the RPA2-containing, canonical RPA complex, may not support chromosomal DNA replication and cell cycle progression through S-phase. The aRPA may not promote efficient priming by DNA polymerase alpha but could support DNA synthesis by polymerase delta in presence of PCNA and replication factor C (RFC), the dual incision/excision reaction of nucleotide excision repair and RAD51-dependent strand exchange (PubMed:19996105). DNA damage-induced 'Lys-63'-linked polyubiquitination by PRPF19 mediates ATRIP recruitment to the RPA complex at sites of DNA damage and activation of ATR (PubMed:24332808). Ubiquitinated by RFWD3 at stalled replication forks in response to DNA damage: ubiquitination by RFWD3 does not lead to degradation by the proteasome and promotes removal of the RPA complex from stalled replication forks, promoting homologous recombination (PubMed:26474068).;Sumoylated on lysine residues Lys-449 and Lys-577, with Lys-449 being the major site. Sumoylation promotes recruitment of RAD51 to the DNA damage foci to initiate DNA repair through homologous recombination. Desumoylated by SENP6. Belongs to the replication factor A protein 1 family. DNA replication;Nucleotide excision repair;Mismatch repair;Homologous recombination;Fanconi anemia pathway;SUMOylation of DNA damage response and repair proteins;Regulation of HSF1-mediated heat shock response;Translesion Synthesis by POLH;Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha);Meiotic recombination;Activation of ATR in response to replication stress;Activation of the pre-replicative complex;G2/M DNA damage checkpoint;HSF1 activation;Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta);Translesion synthesis by POLI;Termination of translesion DNA synthesis;Translesion synthesis by REV1;Translesion synthesis by POLK;PCNA-Dependent Long Patch Base Excision Repair;Recognition of DNA damage by PCNA-containing replication complex;Removal of the Flap Intermediate from the C-strand;Removal of the Flap Intermediate;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER;Fanconi Anemia Pathway;Regulation of TP53 Activity through Phosphorylation PE1 17 +NX_P27695 DNA-(apurinic or apyrimidinic site) lyase 318 35555 8.33 0 Cytoplasm;Mitochondrion;Nucleus speckle;Nucleolus;Endoplasmic reticulum;Nucleoplasm;Nucleus NA Multifunctional protein that plays a central role in the cellular response to oxidative stress. The two major activities of APEX1 are DNA repair and redox regulation of transcriptional factors. Functions as a apurinic/apyrimidinic (AP) endodeoxyribonuclease in the DNA base excision repair (BER) pathway of DNA lesions induced by oxidative and alkylating agents. Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break with 5'-deoxyribose phosphate and 3'-hydroxyl ends. Does also incise at AP sites in the DNA strand of DNA/RNA hybrids, single-stranded DNA regions of R-loop structures, and single-stranded RNA molecules. Has a 3'-5' exoribonuclease activity on mismatched deoxyribonucleotides at the 3' termini of nicked or gapped DNA molecules during short-patch BER. Possesses a DNA 3' phosphodiesterase activity capable of removing lesions (such as phosphoglycolate) blocking the 3' side of DNA strand breaks. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation. Acts as a loading factor for POLB onto non-incised AP sites in DNA and stimulates the 5'-terminal deoxyribose 5'-phosphate (dRp) excision activity of POLB. Plays a role in the protection from granzymes-mediated cellular repair leading to cell death. Also involved in the DNA cleavage step of class switch recombination (CSR). On the other hand, APEX1 also exerts reversible nuclear redox activity to regulate DNA binding affinity and transcriptional activity of transcriptional factors by controlling the redox status of their DNA-binding domain, such as the FOS/JUN AP-1 complex after exposure to IR. Involved in calcium-dependent down-regulation of parathyroid hormone (PTH) expression by binding to negative calcium response elements (nCaREs). Together with HNRNPL or the dimer XRCC5/XRCC6, associates with nCaRE, acting as an activator of transcriptional repression. Stimulates the YBX1-mediated MDR1 promoter activity, when acetylated at Lys-6 and Lys-7, leading to drug resistance. Acts also as an endoribonuclease involved in the control of single-stranded RNA metabolism. Plays a role in regulating MYC mRNA turnover by preferentially cleaving in between UA and CA dinucleotides of the MYC coding region determinant (CRD). In association with NMD1, plays a role in the rRNA quality control process during cell cycle progression. Associates, together with YBX1, on the MDR1 promoter. Together with NPM1, associates with rRNA. Binds DNA and RNA. Cleaved at Lys-31 by granzyme A to create the mitochondrial form; leading in reduction of binding to DNA, AP endodeoxynuclease activity, redox activation of transcription factors and to enhanced cell death. Cleaved by granzyme K; leading to intracellular ROS accumulation and enhanced cell death after oxidative stress.;Phosphorylated. Phosphorylation by kinase PKC or casein kinase CK2 results in enhanced redox activity that stimulates binding of the FOS/JUN AP-1 complex to its cognate binding site. AP-endodeoxyribonuclease activity is not affected by CK2-mediated phosphorylation. Phosphorylation of Thr-233 by CDK5 reduces AP-endodeoxyribonuclease activity resulting in accumulation of DNA damage and contributing to neuronal death.;Acetylated on Lys-6 and Lys-7. Acetylation is increased by the transcriptional coactivator EP300 acetyltransferase, genotoxic agents like H(2)O(2) and methyl methanesulfonate (MMS). Acetylation increases its binding affinity to the negative calcium response element (nCaRE) DNA promoter. The acetylated form induces a stronger binding of YBX1 to the Y-box sequence in the MDR1 promoter than the unacetylated form. Deacetylated on lysines. Lys-6 and Lys-7 are deacetylated by SIRT1.;Ubiquitinated by MDM2; leading to translocation to the cytoplasm and proteasomal degradation.;Cys-65 and Cys-93 are nitrosylated in response to nitric oxide (NO) and lead to the exposure of the nuclear export signal (NES). Belongs to the DNA repair enzymes AP/ExoA family. Base excision repair;Displacement of DNA glycosylase by APEX1;POLB-Dependent Long Patch Base Excision Repair;Resolution of AP sites via the multiple-nucleotide patch replacement pathway;PCNA-Dependent Long Patch Base Excision Repair;Abasic sugar-phosphate removal via the single-nucleotide replacement pathway;Resolution of Abasic Sites (AP sites) PE1 14 +NX_P27701 CD82 antigen 267 29626 5.14 4 Cytoplasmic vesicle;Cell membrane NA Associates with CD4 or CD8 and delivers costimulatory signals for the TCR/CD3 pathway. NA Belongs to the tetraspanin (TM4SF) family. p53 signaling pathway PE1 11 +NX_P27707 Deoxycytidine kinase 260 30519 5.14 0 Nucleoplasm;Nucleus NA Required for the phosphorylation of the deoxyribonucleosides deoxycytidine (dC), deoxyguanosine (dG) and deoxyadenosine (dA). Has broad substrate specificity, and does not display selectivity based on the chirality of the substrate. It is also an essential enzyme for the phosphorylation of numerous nucleoside analogs widely employed as antiviral and chemotherapeutic agents. Phosphorylated and activated in vitro upon phosphorylation at Ser-74 by CSNK1D/CK1. Belongs to the DCK/DGK family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;Pyrimidine salvage;Purine salvage PE1 4 +NX_P27708 CAD protein 2225 242984 6.02 0 Cytoplasm;Nucleoplasm;Nucleus Epileptic encephalopathy, early infantile, 50 This protein is a 'fusion' protein encoding four enzymatic activities of the pyrimidine pathway (GATase, CPSase, ATCase and DHOase). Activated by MAP kinase (Erk1/2) phosphorylation just prior to the S phase of the cell cycle, when the demand for pyrimidine nucleotides is greatest, and down-regulated as the cells emerge from S phase by protein kinase A (PKA) phosphorylation. Phosphorylation at Ser-1859 by RPS6KB1 downstream of MTOR promotes oligomerization and stimulates dihydroorotase activity. Phosphorylation at Ser-1406 reduces sensitivity to feedback inhibition by UTP. In the central section; belongs to the metallo-dependent hydrolases superfamily. DHOase family. CAD subfamily. Pyrimidine metabolism; UMP biosynthesis via de novo pathway; (S)-dihydroorotate from bicarbonate: step 2/3.;Pyrimidine metabolism; UMP biosynthesis via de novo pathway; (S)-dihydroorotate from bicarbonate: step 3/3.;Pyrimidine metabolism; UMP biosynthesis via de novo pathway; (S)-dihydroorotate from bicarbonate: step 1/3.;Pyrimidine metabolism;Alanine, aspartate and glutamate metabolism;Metabolic pathways;Pyrimidine biosynthesis PE1 2 +NX_P27797 Calreticulin 417 48142 4.29 0 Extracellular matrix;Cell surface;Endoplasmic reticulum;Cytosol;Endoplasmic reticulum lumen;Sarcoplasmic reticulum lumen NA Calcium-binding chaperone that promotes folding, oligomeric assembly and quality control in the endoplasmic reticulum (ER) via the calreticulin/calnexin cycle. This lectin interacts transiently with almost all of the monoglucosylated glycoproteins that are synthesized in the ER. Interacts with the DNA-binding domain of NR3C1 and mediates its nuclear export. Involved in maternal gene expression regulation. May participate in oocyte maturation via the regulation of calcium homeostasis (By similarity). NA Belongs to the calreticulin family. Protein processing in endoplasmic reticulum;Phagosome;Antigen processing and presentation;Chagas disease (American trypanosomiasis);HTLV-I infection;ER-Phagosome pathway;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;Scavenging by Class A Receptors;Scavenging by Class F Receptors;ATF6 (ATF6-alpha) activates chaperone genes;Calnexin/calreticulin cycle;Assembly of Viral Components at the Budding Site PE1 19 +NX_P27815 cAMP-specific 3',5'-cyclic phosphodiesterase 4A 886 98143 5.09 0 Cytoplasm;Cell membrane;Membrane;Ruffle membrane;Perinuclear region NA Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. Are activated by phosphorylation at Ser-119 and Ser-123 respectively by PKA.;Proteolytically cleaved by caspase-3.;Phosphorylation by MAPKAPK2 its activation through PKA phosphorylation (By similarity). Phosphorylated at Ser-686 and Ser-688 when expressed in S.frugiperda cells. Belongs to the cyclic nucleotide phosphodiesterase family. PDE4 subfamily. Purine metabolism; 3',5'-cyclic AMP degradation; AMP from 3',5'-cyclic AMP: step 1/1.;Purine metabolism;G alpha (s) signalling events;DARPP-32 events PE1 19 +NX_P27816 Microtubule-associated protein 4 1152 121005 5.32 0 Cytosol;Cytoskeleton;Cell membrane NA Non-neuronal microtubule-associated protein. Promotes microtubule assembly. Is phosphorylated on Ser-337 and Ser-338.;Phosphorylated at serine residues in K-X-G-S motifs by MAP/microtubule affinity-regulating kinase (MARK1 or MARK2), causing detachment from microtubules, and their disassembly (By similarity). Phosphorylation on Ser-787 negatively regulates MAP4 activity to promote microtubule assembly. NA NA PE1 3 +NX_P27824 Calnexin 592 67568 4.47 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Melanosome NA Calcium-binding protein that interacts with newly synthesized glycoproteins in the endoplasmic reticulum. It may act in assisting protein assembly and/or in the retention within the ER of unassembled protein subunits. It seems to play a major role in the quality control apparatus of the ER by the retention of incorrectly folded proteins. Associated with partial T-cell antigen receptor complexes that escape the ER of immature thymocytes, it may function as a signaling complex regulating thymocyte maturation. Additionally it may play a role in receptor-mediated endocytosis at the synapse. Phosphorylated at Ser-564 by MAPK3/ERK1. Phosphorylation by MAPK3/ERK1 increases its association with ribosomes (By similarity).;Palmitoylation by DHHC6 leads to the preferential localization to the perinuclear rough ER. It mediates the association of calnexin with the ribosome-translocon complex (RTC) which is required for efficient folding of glycosylated proteins.;Ubiquitinated, leading to proteasomal degradation. Probably ubiquitinated by ZNRF4. Belongs to the calreticulin family. Protein processing in endoplasmic reticulum;Phagosome;Antigen processing and presentation;HTLV-I infection;MHC class II antigen presentation;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;Calnexin/calreticulin cycle;Assembly of Viral Components at the Budding Site;Interleukin-35 Signalling;Interleukin-27 signaling PE1 5 +NX_P27918 Properdin 469 51276 8.32 0 Secreted Properdin deficiency A positive regulator of the alternate pathway of complement. It binds to and stabilizes the C3- and C5-convertase enzyme complexes. NA NA Herpes simplex infection;O-glycosylation of TSR domain-containing proteins;Regulation of Complement cascade;Activation of C3 and C5;Alternative complement activation;Defective B3GALTL causes Peters-plus syndrome (PpS);Neutrophil degranulation PE1 X +NX_P27930 Interleukin-1 receptor type 2 398 45421 8.03 1 Secreted;Cell membrane NA Non-signaling receptor for IL1A, IL1B and IL1RN. Reduces IL1B activities. Serves as a decoy receptor by competetive binding to IL1B and preventing its binding to IL1R1. Also modulates cellular response through non-signaling association with IL1RAP after binding to IL1B. IL1R2 (membrane and secreted forms) preferentially binds IL1B and poorly IL1A and IL1RN. The secreted IL1R2 recruits secreted IL1RAP with high affinity; this complex formation may be the dominant mechanism for neutralization of IL1B by secreted/soluble receptors. A soluble form (sIL1R2) can also be produced by proteolytic cleavage at the cell surface (shedding) involving a metalloproteinase; hovever, several sIL1R2 forms ranging from 45 and 60 kDa are reported. Belongs to the interleukin-1 receptor family. MAPK signaling pathway;Cytokine-cytokine receptor interaction;Hematopoietic cell lineage;Amoebiasis;HTLV-I infection;Interleukin-10 signaling;Interleukin-1 signaling PE1 2 +NX_P27986 Phosphatidylinositol 3-kinase regulatory subunit alpha 724 83598 5.84 0 Cytosol Agammaglobulinemia 7, autosomal recessive;SHORT syndrome;Immunodeficiency 36 Binds to activated (phosphorylated) protein-Tyr kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signaling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB. Likewise, plays a role in ITGB2 signaling (PubMed:17626883, PubMed:19805105, PubMed:7518429). Modulates the cellular response to ER stress by promoting nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (PubMed:20348923). Polyubiquitinated in T-cells by CBLB; which does not promote proteasomal degradation but impairs association with CD28 and CD3Z upon T-cell activation.;Phosphorylated. Tyrosine phosphorylated in response to signaling by FGFR1, FGFR2, FGFR3 and FGFR4. Phosphorylated by CSF1R. Phosphorylated by ERBB4. Phosphorylated on tyrosine residues by TEK/TIE2. Dephosphorylated by PTPRJ. Phosphorylated by PIK3CA at Ser-608; phosphorylation is stimulated by insulin and PDGF. The relevance of phosphorylation by PIK3CA is however unclear (By similarity). Phosphorylated in response to KIT and KITLG/SCF. Phosphorylated by FGR.;PIK3R1 is phosphorylated by KIT;PIK3R1 is phosphorylated by NTRK1;PIK3R1 is phosphorylated by MST1R (Phosphotyrosine:PTM-0255) Belongs to the PI3K p85 subunit family. ErbB signaling pathway;Chemokine signaling pathway;Phosphatidylinositol signaling system;mTOR signaling pathway;Apoptosis;VEGF signaling pathway;Osteoclast differentiation;Focal adhesion;Toll-like receptor signaling pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Cholinergic synapse;Regulation of actin cytoskeleton;Insulin signaling pathway;Progesterone-mediated oocyte maturation;Type II diabetes mellitus;Aldosterone-regulated sodium reabsorption;Carbohydrate digestion and absorption;Bacterial invasion of epithelial cells;Chagas disease (American trypanosomiasis);Toxoplasmosis;Amoebiasis;Hepatitis C;Measles;Influenza A;HTLV-I infection;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Melanoma;Chronic myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;G alpha (q) signalling events;Synthesis of PIPs at the plasma membrane;Downstream TCR signaling;PI3K Cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;PI-3K cascade:FGFR1;PI-3K cascade:FGFR2;PI-3K cascade:FGFR3;PI-3K cascade:FGFR4;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;Role of LAT2/NTAL/LAB on calcium mobilization;GPVI-mediated activation cascade;Interleukin-7 signaling;Interleukin receptor SHC signaling;DAP12 signaling;VEGFA-VEGFR2 Pathway;CD28 dependent PI3K/Akt signaling;PI3K events in ERBB4 signaling;PI3K events in ERBB2 signaling;Signaling by SCF-KIT;Signaling by cytosolic FGFR1 fusion mutants;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Interleukin-3, Interleukin-5 and GM-CSF signaling;Nephrin family interactions;Regulation of signaling by CBL;Tie2 Signaling;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Costimulation by the CD28 family;GP1b-IX-V activation signalling;PI3K/AKT activation;Downstream signal transduction;GAB1 signalosome;Constitutive Signaling by EGFRvIII;Signaling by FGFR4 in disease;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Signaling by FGFR3 point mutants in cancer;Signaling by FGFR3 fusions in cancer;RET signaling;MET activates PI3K/AKT signaling;Interleukin-4 and Interleukin-13 signaling;IRS-mediated signalling;Activated NTRK3 signals through PI3K;Activated NTRK2 signals through PI3K;Erythropoietin activates Phosphoinositide-3-kinase (PI3K);Extra-nuclear estrogen signaling;FLT3 Signaling PE1 5 +NX_P27987 Inositol-trisphosphate 3-kinase B 946 102376 8.7 0 Nucleoplasm NA NA NA Belongs to the inositol phosphokinase (IPK) family. Inositol phosphate metabolism;Metabolic pathways;Calcium signaling pathway;Phosphatidylinositol signaling system;Synthesis of IP3 and IP4 in the cytosol PE1 1 +NX_P28039 Acyloxyacyl hydrolase 575 65105 8.45 0 Cytoplasm;Secreted;Lysosome;Cytoplasmic vesicle;Nucleus NA Removes the secondary (acyloxyacyl-linked) fatty acyl chains from the lipid A region of bacterial lipopolysaccharides (PubMed:1883828, PubMed:8089145, PubMed:29343645). By breaking down LPS, terminates the host response to bacterial infection and prevents prolonged and damaging inflammatory responses (By similarity). In peritoneal macrophages, seems to be important for recovery from a state of immune tolerance following infection by Gram-negative bacteria (By similarity). The small subunit is N-glycosylated.;Cleaved into a large and a small subunit. NA NA PE1 7 +NX_P28062 Proteasome subunit beta type-8 276 30354 7.04 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytoskeleton Proteasome-associated autoinflammatory syndrome 1 The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB5 by PSMB8 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues. Involved in the generation of spliced peptides resulting from the ligation of two separate proteasomal cleavage products that are not contiguous in the parental protein (PubMed:27049119). Acts as a major component of interferon gamma-induced sensitivity. Plays a key role in apoptosis via the degradation of the apoptotic inhibitor MCL1. May be involved in the inflammatory response pathway. In cancer cells, substitution of isoform 1 (E2) by isoform 2 (E1) results in immunoproteasome deficiency. Required for the differentiation of preadipocytes into adipocytes. Autocleaved. The resulting N-terminal Thr residue of the mature subunit is responsible for the nucleophile proteolytic activity. Belongs to the peptidase T1B family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Interferon alpha/beta signaling;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 6 +NX_P28065 Proteasome subunit beta type-9 219 23264 4.93 0 Cytoplasm;Cytosol;Nucleus Proteasome-associated autoinflammatory syndrome 3 The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB6 by PSMB9 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues. Autocleaved. The resulting N-terminal Thr residue of the mature subunit is responsible for the nucleophile proteolytic activity. Belongs to the peptidase T1B family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 6 +NX_P28066 Proteasome subunit alpha type-5 241 26411 4.74 0 Cytoplasm;Cytosol;Nucleus NA Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). NA Belongs to the peptidase T1A family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neutrophil degranulation;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 1 +NX_P28067 HLA class II histocompatibility antigen, DM alpha chain 261 29194 4.51 1 Cytoplasmic vesicle;Lysosome membrane;Late endosome membrane NA Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. NA Belongs to the MHC class II family. MHC class II antigen presentation PE1 6 +NX_P28068 HLA class II histocompatibility antigen, DM beta chain 263 28943 7.09 1 Cytoplasmic vesicle;Lysosome membrane;Late endosome membrane NA Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. NA Belongs to the MHC class II family. Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Intestinal immune network for IgA production;Type I diabetes mellitus;Leishmaniasis;Toxoplasmosis;Staphylococcus aureus infection;Tuberculosis;Influenza A;HTLV-I infection;Herpes simplex infection;Asthma;Autoimmune thyroid disease;Systemic lupus erythematosus;Rheumatoid arthritis;Allograft rejection;Graft-versus-host disease;Viral myocarditis;MHC class II antigen presentation PE1 6 +NX_P28069 Pituitary-specific positive transcription factor 1 291 32912 8.36 0 Nucleus Pituitary hormone deficiency, combined, 1 Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Specifically binds to the consensus sequence 5'-TAAAT-3'. Activates growth hormone and prolactin genes (PubMed:22010633, PubMed:26612202). NA Belongs to the POU transcription factor family. Class-1 subfamily. NA PE1 3 +NX_P28070 Proteasome subunit beta type-4 264 29204 5.72 0 Cytoplasm;Nucleus Proteasome-associated autoinflammatory syndrome 3 Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. NA Belongs to the peptidase T1B family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 1 +NX_P28072 Proteasome subunit beta type-6 239 25358 4.8 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Within the 20S core complex, PSMB6 displays a peptidylglutamyl-hydrolizing activity also termed postacidic or caspase-like activity, meaning that the peptides bond hydrolysis occurs directly after acidic residues. NA Belongs to the peptidase T1B family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 17 +NX_P28074 Proteasome subunit beta type-5 263 28480 6.44 0 Nucleoplasm;Cytoplasm;Centrosome;Nucleus NA Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Within the 20S core complex, PSMB5 displays a chymotrypsin-like activity. NA Belongs to the peptidase T1B family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 14 +NX_P28161 Glutathione S-transferase Mu 2 218 25745 5.99 0 Cytoplasm NA Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. NA Belongs to the GST superfamily. Mu family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Glutathione conjugation PE1 1 +NX_P28221 5-hydroxytryptamine receptor 1D 377 41907 9.03 7 Cell membrane NA G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for ergot alkaloid derivatives, various anxiolytic and antidepressant drugs and other psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. Regulates the release of 5-hydroxytryptamine in the brain, and thereby affects neural activity. May also play a role in regulating the release of other neurotransmitters. May play a role in vasoconstriction. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Serotonin receptors PE1 1 +NX_P28222 5-hydroxytryptamine receptor 1B 390 43568 8.96 7 Cell membrane NA G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for ergot alkaloid derivatives, various anxiolytic and antidepressant drugs and other psychoactive substances, such as lysergic acid diethylamide (LSD). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. Arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Regulates the release of 5-hydroxytryptamine, dopamine and acetylcholine in the brain, and thereby affects neural activity, nociceptive processing, pain perception, mood and behavior. Besides, plays a role in vasoconstriction of cerebral arteries. Palmitoylated.;Phosphorylated. Desensitization of the receptor may be mediated by its phosphorylation. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Serotonin receptors PE1 6 +NX_P28223 5-hydroxytryptamine receptor 2A 471 52603 7.83 7 Cell membrane;Presynapse;Caveola;Cytoplasmic vesicle;Axon;Dendrite NA (Microbial infection) Acts as a receptor for human JC polyomavirus/JCPyV.;G-protein coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:1330647, PubMed:18703043, PubMed:19057895). Also functions as a receptor for various drugs and psychoactive substances, including mescaline, psilocybin, 1-(2,5-dimethoxy-4-iodophenyl)-2-aminopropane (DOI) and lysergic acid diethylamide (LSD) (PubMed:28129538). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors (PubMed:28129538). Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways (PubMed:28129538). Signaling activates phospholipase C and a phosphatidylinositol-calcium second messenger system that modulates the activity of phosphatidylinositol 3-kinase and promotes the release of Ca(2+) ions from intracellular stores (PubMed:18703043, PubMed:28129538). Affects neural activity, perception, cognition and mood (PubMed:18297054). Plays a role in the regulation of behavior, including responses to anxiogenic situations and psychoactive substances. Plays a role in intestinal smooth muscle contraction, and may play a role in arterial vasoconstriction. NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Gap junction;G alpha (q) signalling events;Serotonin receptors PE1 13 +NX_P28288 ATP-binding cassette sub-family D member 3 659 75476 9.41 4 Peroxisome membrane;Peroxisome Congenital bile acid synthesis defect 5 Probable transporter involved in the transport of branched-chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis (PubMed:25168382). The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity (PubMed:11248239). NA Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. ABC transporters;Peroxisome;ABC transporters in lipid homeostasis;Class I peroxisomal membrane protein import PE1 1 +NX_P28289 Tropomodulin-1 359 40569 5.03 0 Cytoskeleton NA Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton. May play an important role in regulating the organization of actin filaments by preferentially binding to a specific tropomyosin isoform at its N-terminus. NA Belongs to the tropomodulin family. Striated Muscle Contraction PE1 9 +NX_P28290 Protein ITPRID2 1259 138386 5.11 0 Nucleoplasm;Cytosol;Cytoplasm;Cell membrane NA NA A 33 kDa peptide corresponding to the C-terminus of this protein is found in the testis and seems to be cleaved into 2 peptides of 14 kDa and 18 kDa found on the surface of mature sperm cells. This sperm surface antigen may be involved in some step of early cleavage of the fertilized oocyte. NA NA PE1 2 +NX_P28300 Protein-lysine 6-oxidase 417 46944 8.36 0 Endoplasmic reticulum;Secreted;Extracellular space Aortic aneurysm, familial thoracic 10 Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin (PubMed:26838787). Regulator of Ras expression. May play a role in tumor suppression. Plays a role in the aortic wall architecture (By similarity). Sulfated at Tyr-187 and also at either Tyr-183 or Tyr-184 which enhances binding to collagen.;The lysine tyrosylquinone cross-link (LTQ) is generated by condensation of the epsilon-amino group of a lysine with a topaquinone produced by oxidation of tyrosine.;Proteolytically cleaved by BMP1 which removes the propeptide (PubMed:31152061). Also proteolytically cleaved by ADAMTS2 and ADAMTS14, but not by ADAMTS3, at an additional cleavage site downstream of the BMP1 cleavage site (PubMed:31152061). The propeptide plays a role in directing the deposition of this enzyme to elastic fibers, via interaction with tropoelastin (By similarity). Cleavage by BMP1 to remove the propeptide does not increase enzymatic activity but increases binding to collagen (PubMed:31152061). Cleavage by ADAMTS2 produces a form with reduced collagen-binding activity (PubMed:31152061). Belongs to the lysyl oxidase family. Elastic fibre formation;Crosslinking of collagen fibrils PE1 5 +NX_P28324 ETS domain-containing protein Elk-4 431 46900 7.68 0 Nucleoplasm;Nucleus NA Involved in both transcriptional activation and repression. Interaction with SIRT7 leads to recruitment and stabilization of SIRT7 at promoters, followed by deacetylation of histone H3 at 'Lys-18' (H3K18Ac) and subsequent transcription repression. Forms a ternary complex with the serum response factor (SRF). Requires DNA-bound SRF for ternary complex formation and makes extensive DNA contacts to the 5'side of SRF, but does not bind DNA autonomously. ELK4 is phosphorylated by MAPK11 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);ELK4 is phosphorylated by MAPK8;ELK4 is phosphorylated by MAPK7 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the ETS family. MAPK signaling pathway;HTLV-I infection PE1 1 +NX_P28325 Cystatin-D 142 16080 6.71 0 Secreted NA Cysteine proteinase inhibitor that possibly plays a protective role against proteinases present in the oral cavity. The order of preference for inhibition is cathepsin S > cathepsin H > cathepsin L > cathepsin B. NA Belongs to the cystatin family. Salivary secretion PE1 20 +NX_P28328 Peroxisome biogenesis factor 2 305 34843 8.98 2 Peroxisome membrane;Cytoplasmic vesicle Peroxisome biogenesis disorder complementation group 5;Peroxisome biogenesis disorder 5A;Peroxisome biogenesis disorder 5B Somewhat implicated in the biogenesis of peroxisomes. NA Belongs to the pex2/pex10/pex12 family. Peroxisome;E3 ubiquitin ligases ubiquitinate target proteins;Peroxisomal protein import;Class I peroxisomal membrane protein import PE1 8 +NX_P28329 Choline O-acetyltransferase 748 82536 8.9 0 NA Myasthenic syndrome, congenital, 6, presynaptic Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses. CHAT is phosphorylated by CAMK2A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the carnitine/choline acetyltransferase family. Glycerophospholipid metabolism;Cholinergic synapse;Synthesis of PC;Acetylcholine Neurotransmitter Release Cycle PE1 10 +NX_P28330 Long-chain specific acyl-CoA dehydrogenase, mitochondrial 430 47656 7.68 0 Mitochondrion matrix NA Long-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (By similarity). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (By similarity). Among the different mitochondrial acyl-CoA dehydrogenases, long-chain specific acyl-CoA dehydrogenase can act on saturated and unsaturated acyl-CoAs with 6 to 24 carbons with a preference for 8 to 18 carbons long primary chains (PubMed:8823175, PubMed:21237683). Acetylation at Lys-318 and Lys-322 in proximity of the cofactor-binding sites strongly reduces catalytic activity. These sites are deacetylated by SIRT3. Belongs to the acyl-CoA dehydrogenase family. Lipid metabolism; mitochondrial fatty acid beta-oxidation.;Fatty acid metabolism;Metabolic pathways;PPAR signaling pathway;mitochondrial fatty acid beta-oxidation of unsaturated fatty acids;Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA;Beta oxidation of myristoyl-CoA to lauroyl-CoA PE1 2 +NX_P28331 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial 727 79468 5.89 0 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex I deficiency, nuclear type 5 Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. NA Belongs to the complex I 75 kDa subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 2 +NX_P28332 Alcohol dehydrogenase 6 368 39073 8.07 0 Cytoplasm NA NA NA Belongs to the zinc-containing alcohol dehydrogenase family. Class-V subfamily. Glycolysis / Gluconeogenesis;Fatty acid metabolism;Tyrosine metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;Ethanol oxidation PE1 4 +NX_P28335 5-hydroxytryptamine receptor 2C 458 51821 9.13 7 Cell membrane NA G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs and psychoactive substances, including ergot alkaloid derivatives, 1-2,5,-dimethoxy-4-iodophenyl-2-aminopropane (DOI) and lysergic acid diethylamide (LSD). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Signaling activates a phosphatidylinositol-calcium second messenger system that modulates the activity of phosphatidylinositol 3-kinase and down-stream signaling cascades and promotes the release of Ca(2+) ions from intracellular stores. Regulates neuronal activity via the activation of short transient receptor potential calcium channels in the brain, and thereby modulates the activation of pro-opiomelacortin neurons and the release of CRH that then regulates the release of corticosterone. Plays a role in the regulation of appetite and eating behavior, responses to anxiogenic stimuli and stress. Plays a role in insulin sensitivity and glucose homeostasis. N-glycosylated. Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Gap junction;G alpha (q) signalling events;Serotonin receptors PE1 X +NX_P28336 Neuromedin-B receptor 390 43435 8.93 7 Cytosol;Cell membrane NA Receptor for neuromedin-B. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 6 +NX_P28340 DNA polymerase delta catalytic subunit 1107 123631 6.64 0 Nucleoplasm;Nucleus Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome;Colorectal cancer 10 As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair. Exhibits both DNA polymerase and 3'- to 5'-exonuclease activities (PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24035200, PubMed:24022480). Requires the presence of accessory proteins POLD2, POLD3 and POLD4 for full activity. Depending upon the absence (Pol-delta3) or the presence of POLD4 (Pol-delta4), displays differences in catalytic activity. Most notably, expresses higher proofreading activity in the context of Pol-delta3 compared with that of Pol-delta4 (PubMed:19074196, PubMed:20334433). Although both Pol-delta3 and Pol-delta4 process Okazaki fragments in vitro, Pol-delta3 may be better suited to fulfill this task, exhibiting near-absence of strand displacement activity compared to Pol-delta4 and stalling on encounter with the 5'-blocking oligonucleotides. Pol-delta3 idling process may avoid the formation of a gap, while maintaining a nick that can be readily ligated (PubMed:24035200). Along with DNA polymerase kappa, DNA polymerase delta carries out approximately half of nucleotide excision repair (NER) synthesis following UV irradiation (PubMed:20227374). Under conditions of DNA replication stress, in the presence of POLD3 and POLD4, may catalyze the repair of broken replication forks through break-induced replication (BIR) (PubMed:24310611). Involved in the translesion synthesis (TLS) of templates carrying O6-methylguanine or abasic sites (PubMed:19074196). NA Belongs to the DNA polymerase type-B family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;DNA replication;Base excision repair;Nucleotide excision repair;Mismatch repair;Homologous recombination;HTLV-I infection;Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha);Cytosolic iron-sulfur cluster assembly;Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta);Termination of translesion DNA synthesis;PCNA-Dependent Long Patch Base Excision Repair;Recognition of DNA damage by PCNA-containing replication complex;Polymerase switching on the C-strand of the telomere;Processive synthesis on the C-strand of the telomere;Telomere C-strand (Lagging Strand) Synthesis;Removal of the Flap Intermediate from the C-strand;Polymerase switching;Removal of the Flap Intermediate;Processive synthesis on the lagging strand;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Homologous Recombination (HRR);Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER PE1 19 +NX_P28347 Transcriptional enhancer factor TEF-1 426 47946 8.33 0 Nucleoplasm;Nucleus Sveinsson chorioretinal atrophy Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell proliferation, migration and epithelial mesenchymal transition (EMT) induction. Binds specifically and cooperatively to the SPH and GT-IIC 'enhansons' (5'-GTGGAATGT-3') and activates transcription in vivo in a cell-specific manner. The activation function appears to be mediated by a limiting cell-specific transcriptional intermediary factor (TIF). Involved in cardiac development. Binds to the M-CAT motif. NA NA YAP1- and WWTR1 (TAZ)-stimulated gene expression;RUNX3 regulates YAP1-mediated transcription PE1 11 +NX_P28356 Homeobox protein Hox-D9 352 36495 9.36 0 Nucleoplasm;Nucleolus;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Abd-B homeobox family. NA PE1 2 +NX_P28358 Homeobox protein Hox-D10 340 38411 8.62 0 Nucleoplasm;Cytosol;Nucleus Vertical talus, congenital Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Abd-B homeobox family. NA PE1 2 +NX_P28360 Homeobox protein MSX-1 303 31496 9.89 0 Nucleoplasm;Nucleus Ectodermal dysplasia 3, Witkop type;Tooth agenesis, selective, 1;Non-syndromic orofacial cleft 5 Acts as a transcriptional repressor. May play a role in limb-pattern formation. Acts in cranofacial development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for nail plate thickness and integrity. Sumoylated by PIAS1, desumoylated by SENP1. Belongs to the Msh homeobox family. HTLV-I infection PE1 4 +NX_P28370 Probable global transcription activator SNF2L1 1054 122605 8.27 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Energy-transducing component of NURF (nucleosome-remodeling factor) and CERF (CECR2-containing-remodeling factor) complexes. Both complexes facilitate the perturbation of chromatin structure in an ATP-dependent manner. Potentiates neurite outgrowth. May be involved in brain development by regulating En-1 and En-2 expression. May be involved in the development of luteal cells. NA Belongs to the SNF2/RAD54 helicase family. ISWI subfamily. NA PE1 X +NX_P28472 Gamma-aminobutyric acid receptor subunit beta-3 473 54116 9.21 4 Cytoplasmic vesicle membrane;Cell membrane;Postsynaptic cell membrane Epileptic encephalopathy, early infantile, 43;Epilepsy, childhood absence 5 Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:18514161, PubMed:22303015, PubMed:26950270, PubMed:22243422, PubMed:24909990). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:25489750). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha1/beta3/gamma2 receptor exhibits synaptogenic activity (PubMed:25489750). The alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity). Functions also as histamine receptor and mediates cellular responses to histamine (PubMed:18281286). Plays an important role in somatosensation and in the production of antinociception (By similarity). NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB3 sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse;Signaling by ERBB4;GABA receptor activation PE1 15 +NX_P28476 Gamma-aminobutyric acid receptor subunit rho-2 465 54151 9.27 4 Cell membrane;Postsynaptic cell membrane NA GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Rho-2 GABA receptor could play a role in retinal neurotransmission. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRR2 sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse;GABA receptor activation PE2 6 +NX_P28482 Mitogen-activated protein kinase 1 360 41390 6.5 0 Cytoplasm;Centrosome;Caveola;Spindle;Nucleus NA Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays also a role in initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors. About 160 substrates have already been discovered for ERKs. Many of these substrates are localized in the nucleus, and seem to participate in the regulation of transcription upon stimulation. However, other substrates are found in the cytosol as well as in other cellular organelles, and those are responsible for processes such as translation, mitosis and apoptosis. Moreover, the MAPK/ERK cascade is also involved in the regulation of the endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC); as well as in the fragmentation of the Golgi apparatus during mitosis. The substrates include transcription factors (such as ATF2, BCL6, ELK1, ERF, FOS, HSF4 or SPZ1), cytoskeletal elements (such as CANX, CTTN, GJA1, MAP2, MAPT, PXN, SORBS3 or STMN1), regulators of apoptosis (such as BAD, BTG2, CASP9, DAPK1, IER3, MCL1 or PPARG), regulators of translation (such as EIF4EBP1) and a variety of other signaling-related molecules (like ARHGEF2, DCC, FRS2 or GRB10). Protein kinases (such as RAF1, RPS6KA1/RSK1, RPS6KA3/RSK2, RPS6KA2/RSK3, RPS6KA6/RSK4, SYK, MKNK1/MNK1, MKNK2/MNK2, RPS6KA5/MSK1, RPS6KA4/MSK2, MAPKAPK3 or MAPKAPK5) and phosphatases (such as DUSP1, DUSP4, DUSP6 or DUSP16) are other substrates which enable the propagation the MAPK/ERK signal to additional cytosolic and nuclear targets, thereby extending the specificity of the cascade. Mediates phosphorylation of TPR in respons to EGF stimulation. May play a role in the spindle assembly checkpoint. Phosphorylates PML and promotes its interaction with PIN1, leading to PML degradation. Phosphorylates CDK2AP2 (By similarity).;Acts as a transcriptional repressor. Binds to a [GC]AAA[GC] consensus sequence. Repress the expression of interferon gamma-induced genes. Seems to bind to the promoter of CCL5, DMP1, IFIH1, IFITM1, IRF7, IRF9, LAMP3, OAS1, OAS2, OAS3 and STAT1. Transcriptional activity is independent of kinase activity. ISGylated.;Phosphorylated upon KIT and FLT3 signaling (By similarity). Dually phosphorylated on Thr-185 and Tyr-187, which activates the enzyme. Undergoes regulatory phosphorylation on additional residues such as Ser-246 and Ser-248 in the kinase insert domain (KID) These phosphorylations, which are probably mediated by more than one kinase, are important for binding of MAPK1/ERK2 to importin-7 (IPO7) and its nuclear translocation. In addition, autophosphorylation of Thr-190 was shown to affect the subcellular localization of MAPK1/ERK2 as well. Ligand-activated ALK induces tyrosine phosphorylation. Dephosphorylated by PTPRJ at Tyr-187. Phosphorylation on Ser-29 by SGK1 results in its activation by enhancing its interaction with MAP2K1/MEK1 and MAP2K2/MEK2. DUSP3 and DUSP6 dephosphorylate specifically MAPK1/ERK2 and MAPK3/ERK1 whereas DUSP9 dephosphorylates a broader range of MAPKs. Dephosphorylated by DUSP1 at Thr-185 and Tyr-187.;MAPK1 is phosphorylated by MAP2K7;MAPK1 is phosphorylated by RIPK2 Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. MAPK signaling pathway;ErbB signaling pathway;Chemokine signaling pathway;Oocyte meiosis;mTOR signaling pathway;Vascular smooth muscle contraction;Dorso-ventral axis formation;TGF-beta signaling pathway;Axon guidance;VEGF signaling pathway;Osteoclast differentiation;Focal adhesion;Adherens junction;Gap junction;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Long-term potentiation;Neurotrophin signaling pathway;Glutamatergic synapse;Cholinergic synapse;Long-term depression;Regulation of actin cytoskeleton;Insulin signaling pathway;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;Type II diabetes mellitus;Aldosterone-regulated sodium reabsorption;Alzheimer's disease;Prion diseases;Shigellosis;Salmonella infection;Pertussis;Leishmaniasis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Hepatitis C;Influenza A;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Thyroid cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer;Regulation of HSF1-mediated heat shock response;RAF/MAP kinase cascade;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Oxidative Stress Induced Senescence;FCERI mediated MAPK activation;Signal transduction by L1;Advanced glycosylation endproduct receptor signaling;Senescence-Associated Secretory Phenotype (SASP);RAF-independent MAPK1/3 activation;Negative regulation of MAPK pathway;Recycling pathway of L1;MAP2K and MAPK activation;Growth hormone receptor signaling;Thrombin signalling through proteinase activated receptors (PARs);Oncogene Induced Senescence;RSK activation;Gastrin-CREB signalling pathway via PKC and MAPK;NCAM signaling for neurite out-growth;Golgi Cisternae Pericentriolar Stack Reorganization;Signal attenuation;Spry regulation of FGF signaling;RHO GTPases Activate NADPH Oxidases;ERK/MAPK targets;Activation of the AP-1 family of transcription factors;ERKs are inactivated;Frs2-mediated activation;Negative feedback regulation of MAPK pathway;MAPK1 (ERK2) activation;phospho-PLA2 pathway;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Neutrophil degranulation;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;Regulation of PTEN gene transcription;RUNX2 regulates osteoblast differentiation;ESR-mediated signaling;Estrogen-dependent nuclear events downstream of ESR-membrane signaling;Regulation of the apoptosome activity;Estrogen-stimulated signaling through PRKCZ PE1 22 +NX_P28562 Dual specificity protein phosphatase 1 367 39298 6.78 0 Nucleolus;Cytosol;Nucleus NA Dual specificity phosphatase that dephosphorylates MAP kinase MAPK1/ERK2 on both 'Thr-183' and 'Tyr-185', regulating its activity during the meiotic cell cycle. Phosphorylation at Ser-359 and Ser-364 by MAPK1/ERK2 and MAPK3/ERK1 reduces its rate of degradation. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. MAPK signaling pathway;RAF-independent MAPK1/3 activation;Negative regulation of MAPK pathway PE1 5 +NX_P28566 5-hydroxytryptamine receptor 1E 365 41682 9.09 7 Cell membrane NA G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various alkaloids and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Serotonin receptors PE1 6 +NX_P28676 Grancalcin 217 24010 5.02 0 Cytoplasm;Cytosol;Cytoplasmic granule membrane;Cell membrane NA Calcium-binding protein that may play a role in the adhesion of neutrophils to fibronectin. May play a role in the formation of focal adhesions. NA NA Neutrophil degranulation PE1 2 +NX_P28698 Myeloid zinc finger 1 734 82055 8.59 0 Nucleoplasm;Nucleus NA Binds to target promoter DNA and functions as transcription regulator. Regulates transcription from the PADI1 and CDH2 promoter. May be one regulator of transcriptional events during hemopoietic development. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_P28702 Retinoic acid receptor RXR-beta 533 56922 8.52 0 Nucleoplasm;Cytoplasm;Nucleus NA Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE). NA Belongs to the nuclear hormone receptor family. NR2 subfamily. PPAR signaling pathway;Adipocytokine signaling pathway;Pathways in cancer;Thyroid cancer;Small cell lung cancer;Non-small cell lung cancer;PPARA activates gene expression;Nuclear Receptor transcription pathway;Signaling by Retinoic Acid PE1 6 +NX_P28715 DNA repair protein complementing XP-G cells 1186 133108 5.13 0 Nucleus Cerebro-oculo-facio-skeletal syndrome 3;Xeroderma pigmentosum complementation group G Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3'incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in transcription by RNA polymerase II, and perhaps in other processes too. NA Belongs to the XPG/RAD2 endonuclease family. XPG subfamily. Dual incision in TC-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER PE1 13 +NX_P28749 Retinoblastoma-like protein 1 1068 120847 7.32 0 Nucleoplasm;Nucleus NA Key regulator of entry into cell division (PubMed:17671431). Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation (By similarity). Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression (By similarity). Controls histone H4 'Lys-20' trimethylation (By similarity). Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters (By similarity). Potent inhibitor of E2F-mediated trans-activation (PubMed:8319904). May act as a tumor suppressor (PubMed:8319904). Cell-cycle arrest properties are inactivated by phosphorylation on Thr-332, Ser-640, Ser-964 and Ser-975 by CDK4. Belongs to the retinoblastoma protein (RB) family. Cell cycle;TGF-beta signaling pathway;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;G0 and Early G1;G1/S-Specific Transcription;Cyclin D associated events in G1;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;Transcription of E2F targets under negative control by DREAM complex;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1 PE1 20 +NX_P28799 Progranulin 593 63544 6.43 0 Endoplasmic reticulum;Endosome;Secreted;Lysosome Ceroid lipofuscinosis, neuronal, 11;Ubiquitin-positive frontotemporal dementia Secreted protein that acts as a key regulator of lysosomal function and as a growth factor involved in inflammation, wound healing and cell proliferation (PubMed:28541286, PubMed:28073925, PubMed:18378771, PubMed:28453791, PubMed:12526812). Regulates protein trafficking to lysosomes and, also the activity of lysosomal enzymes (PubMed:28453791, PubMed:28541286). Facilitates also the acidification of lysosomes, causing degradation of mature CTSD by CTSB (PubMed:28073925). In addition, functions as wound-related growth factor that acts directly on dermal fibroblasts and endothelial cells to promote division, migration and the formation of capillary-like tubule structures (By similarity). Also promotes epithelial cell proliferation by blocking TNF-mediated neutrophil activation preventing release of oxidants and proteases (PubMed:12526812). Moreover, modulates inflammation in neurons by preserving neurons survival, axonal outgrowth and neuronal integrity (PubMed:18378771).;Granulin-7: Stabilizes CTSD through interaction with CTSD leading to maintain its aspartic-type peptidase activity.;Granulin-4: Promotes proliferation of the epithelial cell line A431 in culture.;Granulin-3: Inhibits epithelial cell proliferation and induces epithelial cells to secrete IL-8. Cleaved by ELANE; proteolysis is blocked by SLPI and is concentration- and time-dependent and induces CXCL8/IL-8 production; granulin-3 and granulin-4 are resistant to ELANE (PubMed:12526812, PubMed:28743268). Cleaved by CTSL in lysosome thus regulating the maturation and turnover of progranulin within the lysosome (PubMed:28743268). Belongs to the granulin family. Neutrophil degranulation PE1 17 +NX_P28827 Receptor-type tyrosine-protein phosphatase mu 1452 163682 6.21 1 Membrane;Cell membrane NA Involved in cell-cell adhesion through homophilic interactions. May play a key role in signal transduction and growth control. NA Belongs to the protein-tyrosine phosphatase family. Receptor class 2B subfamily. Cell adhesion molecules (CAMs);Adherens junction PE1 18 +NX_P28838 Cytosol aminopeptidase 519 56166 8.03 0 Nucleoplasm;Cytoplasm;Cytosol;Midbody NA Presumably involved in the processing and regular turnover of intracellular proteins. Catalyzes the removal of unsubstituted N-terminal amino acids from various peptides. NA Belongs to the peptidase M17 family. Arginine and proline metabolism;Glutathione metabolism;Metabolic pathways PE1 4 +NX_P28845 Corticosteroid 11-beta-dehydrogenase isozyme 1 292 32401 8.71 1 Endoplasmic reticulum membrane Cortisone reductase deficiency 2 Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. Catalyzes reversibly the conversion of 7-ketocholesterol to 7-beta-hydroxycholesterol. In intact cells, the reaction runs only in one direction, from 7-ketocholesterol to 7-beta-hydroxycholesterol (By similarity). Glycosylated. Belongs to the short-chain dehydrogenases/reductases (SDR) family. Steroid hormone biosynthesis;Metabolism of xenobiotics by cytochrome P450;Metabolic pathways;Aldosterone-regulated sodium reabsorption;Glucocorticoid biosynthesis PE1 1 +NX_P28906 Hematopoietic progenitor cell antigen CD34 385 40716 7 1 Membrane;Nucleoplasm;Cell junction;Cell membrane NA Possible adhesion molecule with a role in early hematopoiesis by mediating the attachment of stem cells to the bone marrow extracellular matrix or directly to stromal cells. Could act as a scaffold for the attachment of lineage specific glycans, allowing stem cells to bind to lectins expressed by stromal cells or other marrow components. Presents carbohydrate ligands to selectins. Highly glycosylated.;Phosphorylated on serine residues by PKC. Belongs to the CD34 family. Cell adhesion molecules (CAMs);Hematopoietic cell lineage;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 1 +NX_P28907 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 300 34328 7.85 1 Membrane;Cell membrane NA Synthesizes the second messengers cyclic ADP-ribose and nicotinate-adenine dinucleotide phosphate, the former a second messenger for glucose-induced insulin secretion. Also has cADPr hydrolase activity. Also moonlights as a receptor in cells of the immune system. NA Belongs to the ADP-ribosyl cyclase family. Nicotinate and nicotinamide metabolism;Metabolic pathways;Calcium signaling pathway;Hematopoietic cell lineage;Salivary secretion;Pancreatic secretion;Nicotinate metabolism PE1 4 +NX_P28908 Tumor necrosis factor receptor superfamily member 8 595 63747 5.44 1 Cytoplasm;Cell membrane NA Receptor for TNFSF8/CD30L (PubMed:8391931). May play a role in the regulation of cellular growth and transformation of activated lymphoblasts. Regulates gene expression through activation of NF-kappa-B (PubMed:8999898). Phosphorylated on serine and tyrosine residues (Probable).;Is constitutively phosphorylated (PubMed:8839832). Belongs to the TNFR8 family. Cytokine-cytokine receptor interaction;TNFs bind their physiological receptors PE1 1 +NX_P29016 T-cell surface glycoprotein CD1b 333 36939 5.89 1 Endosome membrane;Lysosome membrane;Cell membrane NA Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells. NA NA Hematopoietic cell lineage;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 1 +NX_P29017 T-cell surface glycoprotein CD1c 333 37654 5.7 1 Endosome membrane;Lysosome;Cell membrane NA Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells. NA NA Hematopoietic cell lineage;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 1 +NX_P29033 Gap junction beta-2 protein 226 26215 9.11 4 Gap junction;Cell membrane;Mitochondrion Keratitis-ichthyosis-deafness syndrome;Ichthyosis hystrix-like with deafness syndrome;Deafness, autosomal recessive, 1A;Keratoderma, palmoplantar, with deafness;Knuckle pads, leukonychia, and sensorineural deafness;Deafness, autosomal dominant, 3A;Vohwinkel syndrome Structural component of gap junctions (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910, PubMed:16849369, PubMed:19384972). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:21094651, PubMed:16849369, PubMed:19384972). NA Belongs to the connexin family. Beta-type (group I) subfamily. Gap junction assembly;Oligomerization of connexins into connexons;Transport of connexins along the secretory pathway;Transport of connexons to the plasma membrane PE1 13 +NX_P29034 Protein S100-A2 98 11117 4.68 0 Cytoplasm;Cell membrane;Nucleolus;Nucleoplasm;Cytosol NA May function as calcium sensor and modulator, contributing to cellular calcium signaling. May function by interacting with other proteins, such as TPR-containing proteins, and indirectly play a role in many physiological processes. May also play a role in suppressing tumor cell growth. NA Belongs to the S-100 family. NA PE1 1 +NX_P29074 Tyrosine-protein phosphatase non-receptor type 4 926 105911 7.15 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Cytoskeleton NA Phosphatase that plays a role in immunity, learning, synaptic plasticity or cell homeostasis (PubMed:25825441, PubMed:27246854). Regulates neuronal cell homeostasis by protecting neurons against apoptosis (PubMed:20086240). Negatively regulates TLR4-induced interferon beta production by dephosphorylating adapter TICAM2 and inhibiting subsequent TRAM-TRIF interaction (PubMed:25825441). Dephosphorylates also the immunoreceptor tyrosine-based activation motifs/ITAMs of the TCR zeta subunit and thereby negatively regulates TCR-mediated signaling pathway (By similarity). May act at junctions between the membrane and the cytoskeleton. Cleaved and activated by calpain I/CAPN1.;Highly phosphorylated on serine and threonine residues but not on tyrosines. Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily. Toll Like Receptor 4 (TLR4) Cascade;Interleukin-37 signaling;MECP2 regulates neuronal receptors and channels PE1 2 +NX_P29083 General transcription factor IIE subunit 1 439 49452 4.74 0 Nucleoplasm;Nucleus NA Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase. NA Belongs to the TFIIE alpha subunit family. Basal transcription factors;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA polymerase II transcribes snRNA genes PE1 3 +NX_P29084 Transcription initiation factor IIE subunit beta 291 33044 9.66 0 Nucleoplasm;Cytosol;Nucleus Trichothiodystrophy 6, non-photosensitive Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase. NA Belongs to the TFIIE beta subunit family. Basal transcription factors;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA polymerase II transcribes snRNA genes PE1 8 +NX_P29120 Neuroendocrine convertase 1 753 84152 5.66 0 Secretory vesicle Proprotein convertase 1 deficiency Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Substrates include POMC, renin, enkephalin, dynorphin, somatostatin, insulin and AGRP. O-glycosylated. Belongs to the peptidase S8 family. Furin subfamily. Insulin processing;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP);Synthesis, secretion, and deacylation of Ghrelin;Peptide hormone biosynthesis PE1 5 +NX_P29122 Proprotein convertase subtilisin/kexin type 6 969 106420 7.96 0 Endoplasmic reticulum;Endomembrane system;Secreted NA Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive secretory pathway, with unique restricted distribution in both neuroendocrine and non-neuroendocrine tissues. NA Belongs to the peptidase S8 family. Signaling by NODAL;NGF processing;Formation of the cornified envelope;Assembly of active LPL and LIPC lipase complexes PE1 15 +NX_P29144 Tripeptidyl-peptidase 2 1249 138350 5.9 0 Cytoplasm;Cytosol;Nucleus NA Component of the proteolytic cascade acting downstream of the 26S proteasome in the ubiquitin-proteasome pathway. May be able to complement the 26S proteasome function to some extent under conditions in which the latter is inhibited. Stimulates adipogenesis (By similarity). NA Belongs to the peptidase S8 family. Antigen processing: Ubiquitination & Proteasome degradation PE1 13 +NX_P29218 Inositol monophosphatase 1 277 30189 5.16 0 Cytoplasm;Nucleoplasm;Mitochondrion Mental retardation, autosomal recessive 59 Responsible for the provision of inositol required for synthesis of phosphatidylinositol and polyphosphoinositides and has been implicated as the pharmacological target for lithium action in brain. Has broad substrate specificity and can use myo-inositol monophosphates, myo-inositol 1,3-diphosphate, myo-inositol 1,4-diphosphate, scyllo-inositol-phosphate, D-galactose 1-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. NA Belongs to the inositol monophosphatase superfamily. Polyol metabolism; myo-inositol biosynthesis; myo-inositol from D-glucose 6-phosphate: step 2/2.;Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of IP2, IP, and Ins in the cytosol PE1 8 +NX_P29274 Adenosine receptor A2a 412 44707 8.34 7 Cell membrane NA Receptor for adenosine (By similarity). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase (By similarity). Ubiquitinated. Deubiquitinated by USP4; leading to stabilization and expression at the cell surface. Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Vascular smooth muscle contraction;G alpha (s) signalling events;Adenosine P1 receptors;NGF-independant TRKA activation;Surfactant metabolism PE1 22 +NX_P29275 Adenosine receptor A2b 332 36333 8.62 7 Cytosol;Cell membrane NA Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Vascular smooth muscle contraction;G alpha (s) signalling events;Adenosine P1 receptors;Surfactant metabolism PE1 17 +NX_P29279 CCN family member 2 349 38091 8.43 0 Golgi apparatus;Extracellular matrix;Secreted;Cytoplasmic vesicle NA Major connective tissue mitoattractant secreted by vascular endothelial cells. Promotes proliferation and differentiation of chondrocytes. Mediates heparin- and divalent cation-dependent cell adhesion in many cell types including fibroblasts, myofibroblasts, endothelial and epithelial cells. Enhances fibroblast growth factor-induced DNA synthesis. NA Belongs to the CCN family. YAP1- and WWTR1 (TAZ)-stimulated gene expression;RUNX3 regulates YAP1-mediated transcription PE1 6 +NX_P29317 Ephrin type-A receptor 2 976 108266 5.86 1 Golgi apparatus;Nucleus speckle;Cell membrane;Cell junction;Focal adhesion;Lamellipodium membrane;Ruffle membrane Cataract 6, multiple types (Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry. Mediates HCV entry by promoting the formation of the CD81-CLDN1 receptor complexes that are essential for HCV entry and by enhancing membrane fusion of cells expressing HCV envelope glycoproteins.;Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Activated by the ligand ephrin-A1/EFNA1 regulates migration, integrin-mediated adhesion, proliferation and differentiation of cells. Regulates cell adhesion and differentiation through DSG1/desmoglein-1 and inhibition of the ERK1/ERK2 (MAPK3/MAPK1, respectively) signaling pathway. May also participate in UV radiation-induced apoptosis and have a ligand-independent stimulatory effect on chemotactic cell migration. During development, may function in distinctive aspects of pattern formation and subsequently in development of several fetal tissues. Involved for instance in angiogenesis, in early hindbrain development and epithelial proliferation and branching morphogenesis during mammary gland development. Engaged by the ligand ephrin-A5/EFNA5 may regulate lens fiber cells shape and interactions and be important for lens transparency development and maintenance. With ephrin-A2/EFNA2 may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis. Ubiquitinated by CHIP/STUB1. Ubiquitination is regulated by the HSP90 chaperone and regulates the receptor stability and activity through proteasomal degradation. ANKS1A prevents ubiquitination and degradation (By similarity).;Autophosphorylates. Phosphorylated on tyrosine upon binding and activation by EFNA1. Phosphorylated residues Tyr-588 and Tyr-594 are required for binding VAV2 and VAV3 while phosphorylated residues Tyr-735 and Tyr-930 are required for binding PI3-kinase p85 subunit (PIK3R1, PIK3R2 or PIK3R3). These phosphorylated residues are critical for recruitment of VAV2 and VAV3 and PI3-kinase p85 subunit which transduce downstream signaling to activate RAC1 GTPase and cell migration. Dephosphorylation of Tyr-930 by PTPRF prevents the interaction of EPHA2 with NCK1. Phosphorylated at Ser-897 by PKB; serum-induced phosphorylation which targets EPHA2 to the cell leading edge and stimulates cell migration. Phosphorylation by PKB is inhibited by EFNA1-activated EPHA2 which regulates PKB activity via a reciprocal regulatory loop. Phosphorylated at Ser-897 in response to TNF by RPS6KA1 and RPS6KA3; RPS6KA-EPHA2 signaling pathway controls cell migration (PubMed:26158630). Phosphorylated at Ser-897 by PKA; blocks cell retraction induced by EPHA2 kinase activity (PubMed:27385333). Dephosphorylated by ACP1.;EPHA2 is phosphorylated by ERBB2 Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. Axon guidance;EPH-Ephrin signaling;EPH-ephrin mediated repulsion of cells;EPHA-mediated growth cone collapse PE1 1 +NX_P29320 Ephrin type-A receptor 3 983 110131 6.33 1 Cell membrane;Secreted;Nucleus membrane;Nucleoplasm;Cytosol;Cytoskeleton Colorectal cancer Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Highly promiscuous for ephrin-A ligands it binds preferentially EFNA5. Upon activation by EFNA5 regulates cell-cell adhesion, cytoskeletal organization and cell migration. Plays a role in cardiac cells migration and differentiation and regulates the formation of the atrioventricular canal and septum during development probably through activation by EFNA1. Involved in the retinotectal mapping of neurons. May also control the segregation but not the guidance of motor and sensory axons during neuromuscular circuit development. Autophosphorylates upon activation by EFNA5. Phosphorylation on Tyr-602 mediates interaction with NCK1. Dephosphorylated by PTPN1. Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. Axon guidance;EPH-Ephrin signaling;EPH-ephrin mediated repulsion of cells;EPHA-mediated growth cone collapse PE1 3 +NX_P29322 Ephrin type-A receptor 8 1005 111003 8.42 1 Early endosome membrane;Cell projection;Cell membrane NA Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. The GPI-anchored ephrin-A EFNA2, EFNA3, and EFNA5 are able to activate EPHA8 through phosphorylation. With EFNA5 may regulate integrin-mediated cell adhesion and migration on fibronectin substrate but also neurite outgrowth. During development of the nervous system plays also a role in axon guidance. Downstream effectors of the EPHA8 signaling pathway include FYN which promotes cell adhesion upon activation by EPHA8 and the MAP kinases in the stimulation of neurite outgrowth (By similarity). Ubiquitinated. Ubiquitination by CBL regulates the receptor stability and activity through proteasomal degradation. ANKS1A prevents ubiquitination and degradation (By similarity).;Phosphorylated. Phosphorylation is stimulated upon binding of its ligands including EFNA2, EFNA3 and EFNA5. Autophosphorylation on Tyr-616 is critical for association with FYN. Autophosphorylation on Tyr-839 modulates tyrosine kinase activity (By similarity). Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. Axon guidance;EPH-Ephrin signaling;EPH-ephrin mediated repulsion of cells;EPHA-mediated growth cone collapse PE1 1 +NX_P29323 Ephrin type-B receptor 2 1055 117493 6.14 1 Nucleoplasm;Axon;Dendrite;Cell membrane Prostate cancer Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Functions in axon guidance during development. Involved in the guidance of commissural axons, that form a major interhemispheric connection between the 2 temporal lobes of the cerebral cortex. Also involved in guidance of contralateral inner ear efferent growth cones at the midline and of retinal ganglion cell axons to the optic disk. In addition to axon guidance, also regulates dendritic spines development and maturation and stimulates the formation of excitatory synapses. Upon activation by EFNB1, abolishes the ARHGEF15-mediated negative regulation on excitatory synapse formation. Controls other aspects of development including angiogenesis, palate development and in inner ear development through regulation of endolymph production. Forward and reverse signaling through the EFNB2/EPHB2 complex regulate movement and adhesion of cells that tubularize the urethra and septate the cloaca. May function as a tumor suppressor. Ligand binding induces cleavage by matrix metalloproteinases (MMPs) such as MMP7/MMP9, producing an EphB2/N-terminal fragment (NTF) and a C-terminal long fragment (EphB2-LF). EphB2-LF is further cleaved by MMPs, producing EphB2/CTF1 which is further cleaved by the PS1/gamma-secretase producing EphB2/CTF2.;Polyubiquitinated; ligand binding stimulates ubiquitination.;Autophosphorylated; ligand binding stimulates autophosphorylation on tyrosine residues.;EPHB2 is phosphorylated by ABL2 (Phosphotyrosine:PTM-0255);EPHB2 is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. Axon guidance;EPH-Ephrin signaling;EPHB-mediated forward signaling;Ephrin signaling;EPH-ephrin mediated repulsion of cells;L1CAM interactions PE1 1 +NX_P29350 Tyrosine-protein phosphatase non-receptor type 6 595 67561 7.65 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA Modulates signaling by tyrosine phosphorylated cell surface receptors such as KIT and the EGF receptor/EGFR. The SH2 regions may interact with other cellular components to modulate its own phosphatase activity against interacting substrates. Together with MTUS1, induces UBE2V2 expression upon angiotensin II stimulation. Plays a key role in hematopoiesis. Phosphorylated on tyrosine residues. Binding of KITLG/SCF to KIT increases tyrosine phosphorylation (By similarity). Phosphorylation at Tyr-564 enhances phosphatase activity.;PTPN6 is phosphorylated by LYN (Phosphotyrosine:PTM-0255);PTPN6 is phosphorylated by PRKCD (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);PTPN6 is phosphorylated by PRKG2 (Phosphoserine:PTM-0253) Belongs to the protein-tyrosine phosphatase family. Non-receptor class 2 subfamily. Adherens junction;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Leishmaniasis;Interferon gamma signaling;Interferon alpha/beta signaling;PD-1 signaling;GPVI-mediated activation cascade;Interleukin receptor SHC signaling;Regulation of IFNA signaling;Growth hormone receptor signaling;Regulation of KIT signaling;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Interleukin-3, Interleukin-5 and GM-CSF signaling;Signal regulatory protein family interactions;PECAM1 interactions;Regulation of IFNG signaling;Platelet sensitization by LDL;Costimulation by the CD28 family;CD22 mediated BCR regulation;Neutrophil degranulation;Interleukin-37 signaling PE1 12 +NX_P29353 SHC-transforming protein 1 583 62822 6.01 0 Cytoplasm;Mitochondrion matrix;Mitochondrion;Cytosol NA Does not mediate Ras activation, but is involved in signal transduction pathways that regulate the cellular response to oxidative stress and life span.;Signaling adapter that couples activated growth factor receptors to signaling pathways. Participates in a signaling cascade initiated by activated KIT and KITLG/SCF.;May thus function as initiators of the Ras signaling cascade in various non-neuronal systems.;Acts as a downstream target of the tumor suppressor p53 and is indispensable for the ability of stress-activated p53 to induce elevation of intracellular oxidants, cytochrome c release and apoptosis. The expression of isoform p66Shc has been correlated with life span (By similarity). Participates in signaling downstream of the angiopoietin receptor TEK/TIE2, and plays a role in the regulation of endothelial cell migration and sprouting angiogenesis.;Once phosphorylated, couple activated receptor tyrosine kinases to Ras via the recruitment of the GRB2/SOS complex and are implicated in the cytoplasmic propagation of mitogenic signals. Is phosphorylated on Ser-36 by PRKCB upon treatment with insulin, hydrogen peroxide or irradiation with ultraviolet light (By similarity). Tyrosine phosphorylated in response to FLT3 signaling (By similarity). Tyrosine phosphorylated by activated PTK2B/PYK2 (By similarity). Tyrosine phosphorylated by ligand-activated ALK. Tyrosine phosphorylated by ligand-activated PDGFRB. Tyrosine phosphorylated by TEK/TIE2. May be tyrosine phosphorylated by activated PTK2/FAK1; tyrosine phosphorylation was seen in an astrocytoma biopsy, where PTK2/FAK1 kinase activity is high, but not in normal brain tissue.;Dephosphorylation by PTPN2 may regulate interaction with GRB2.;Phosphorylated by activated epidermal growth factor receptor. Phosphorylated in response to FLT4 and KIT signaling.;Are phosphorylated on tyrosine residues of the Pro-rich domain.;SHC1 is phosphorylated by FGFR3;SHC1 is phosphorylated by NTRK1;SHC1 is phosphorylated by PDGFRB (Phosphotyrosine:PTM-0255);SHC1 is phosphorylated by ALK (Phosphotyrosine:PTM-0255);SHC1 is phosphorylated by RET (Phosphotyrosine:PTM-0255);SHC1 is phosphorylated by LCK (Phosphotyrosine:PTM-0255);SHC1 is phosphorylated by NTRK2 (Phosphotyrosine:PTM-0255);SHC1 is phosphorylated by IGF1R (Phosphotyrosine:PTM-0255) NA ErbB signaling pathway;Chemokine signaling pathway;Focal adhesion;Natural killer cell mediated cytotoxicity;Neurotrophin signaling pathway;Insulin signaling pathway;Bacterial invasion of epithelial cells;Glioma;Chronic myeloid leukemia;RAF/MAP kinase cascade;SHC-mediated cascade:FGFR1;SHC-mediated cascade:FGFR2;SHC-mediated cascade:FGFR3;SHC-mediated cascade:FGFR4;Role of LAT2/NTAL/LAB on calcium mobilization;Interleukin receptor SHC signaling;DAP12 signaling;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;XBP1(S) activates chaperone genes;SHC1 events in ERBB2 signaling;SHC1 events in ERBB4 signaling;Interleukin-3, Interleukin-5 and GM-CSF signaling;Signal attenuation;Insulin receptor signalling cascade;Integrin alphaIIb beta3 signaling;Tie2 Signaling;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Signalling to RAS;Constitutive Signaling by EGFRvIII;SHC1 events in EGFR signaling;SHC-related events triggered by IGF1R;RET signaling;MET activates RAS signaling;Interleukin-15 signaling;Interleukin-2 signaling;Activated NTRK2 signals through RAS;Activated NTRK3 signals through RAS;Erythropoietin activates RAS;Extra-nuclear estrogen signaling PE1 1 +NX_P29371 Neuromedin-K receptor 465 52202 9.42 7 Cell membrane Hypogonadotropic hypogonadism 11 with or without anosmia This is a receptor for the tachykinin neuropeptide neuromedin-K (neurokinin B). It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: neuromedin-K > substance K > substance P. The anchoring of this receptor to the plasma membrane is probably mediated by the palmitoylation of a cysteine residue. Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;G alpha (q) signalling events;Tachykinin receptors bind tachykinins PE1 4 +NX_P29372 DNA-3-methyladenine glycosylase 298 32869 9.65 0 Cytoplasm;Mitochondrion nucleoid;Nucleoplasm;Cytosol;Nucleus NA Hydrolysis of the deoxyribose N-glycosidic bond to excise 3-methyladenine, and 7-methylguanine from the damaged DNA polymer formed by alkylation lesions. NA Belongs to the DNA glycosylase MPG family. Base excision repair;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Displacement of DNA glycosylase by APEX1 PE1 16 +NX_P29373 Cellular retinoic acid-binding protein 2 138 15693 5.42 0 Cytoplasm;Endoplasmic reticulum;Nucleoplasm;Cytosol;Nucleus NA Transports retinoic acid to the nucleus. Regulates the access of retinoic acid to the nuclear retinoic acid receptors. Sumoylated in response to retinoic acid binding, sumoylation is critical for dissociation from ER and subsequent nuclear translocation. Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. Signaling by Retinoic Acid PE1 1 +NX_P29374 AT-rich interactive domain-containing protein 4A 1257 142752 5.02 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA DNA-binding protein which modulates activity of several transcription factors including RB1 (retinoblastoma-associated protein) and AR (androgen receptor) (By similarity). May function as part of an mSin3A repressor complex (PubMed:14581478). Has no intrinsic transcriptional activity (By similarity). Plays a role in the regulation of epigenetic modifications at the PWS/AS imprinting center near the SNRPN promoter, where it might function as part of a complex with RB1 and ARID4B (By similarity). Involved in spermatogenesis, together with ARID4B, where it acts as a transcriptional coactivator for AR and enhances expression of genes required for sperm maturation. Regulates expression of the tight junction protein CLDN3 in the testis, which is important for integrity of the blood-testis barrier (By similarity). Plays a role in myeloid homeostasis where it regulates the histone methylation state of bone marrow cells and expression of various genes involved in hematopoiesis. May function as a leukemia suppressor (By similarity). NA NA HDACs deacetylate histones PE1 14 +NX_P29375 Lysine-specific demethylase 5A 1690 192095 6.12 0 Nucleolus;Nucleus;Cytosol NA Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Regulates specific gene transcription through DNA-binding on 5'-CCGCCC-3' motif (PubMed:18270511). May stimulate transcription mediated by nuclear receptors. Involved in transcriptional regulation of Hox proteins during cell differentiation (PubMed:19430464). May participate in transcriptional repression of cytokines such as CXCL12. Plays a role in the regulation of the circadian rhythm and in maintaining the normal periodicity of the circadian clock. In a histone demethylase-independent manner, acts as a coactivator of the CLOCK-ARNTL/BMAL1-mediated transcriptional activation of PER1/2 and other clock-controlled genes and increases histone acetylation at PER1/2 promoters by inhibiting the activity of HDAC1 (By similarity). Seems to act as a transcriptional corepressor for some genes such as MT1F and to favor the proliferation of cancer cells (PubMed:27427228). NA Belongs to the JARID1 histone demethylase family. HDMs demethylate histones PE1 12 +NX_P29376 Leukocyte tyrosine kinase receptor 864 91681 6.07 1 Membrane;Cytoplasmic vesicle NA Receptor with a tyrosine-protein kinase activity. The exact function of this protein is not known. Studies with chimeric proteins (replacing its extracellular region with that of several known growth factor receptors, such as EGFR and CSFIR) demonstrate its ability to promote growth and specifically neurite outgrowth, and cell survival. Signaling appears to involve the PI3 kinase pathway. Involved in regulation of the secretory pathway involving endoplasmic reticulum (ER) export sites (ERESs) and ER to Golgi transport. NA Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. NA PE1 15 +NX_P29377 Protein S100-G 79 9016 4.69 0 NA NA NA NA Belongs to the S-100 family. Mineral absorption PE1 X +NX_P29400 Collagen alpha-5(IV) chain 1685 161044 7.71 0 Basement membrane Alport syndrome 1, X-linked Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.;Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens.;The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues. Belongs to the type IV collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Amoebiasis;Pathways in cancer;Small cell lung cancer;Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Non-integrin membrane-ECM interactions;Laminin interactions;Crosslinking of collagen fibrils;Anchoring fibril formation;Extracellular matrix organization;Collagen chain trimerization;Regulation of expression of SLITs and ROBOs PE1 X +NX_P29401 Transketolase 623 67878 7.58 0 Nucleoplasm Short stature, developmental delay, and congenital heart defects Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate. NA Belongs to the transketolase family. Pentose phosphate pathway;Metabolic pathways;Pentose phosphate pathway;Insulin effects increased synthesis of Xylulose-5-Phosphate PE1 3 +NX_P29459 Interleukin-12 subunit alpha 219 24874 6.21 0 Secreted NA Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated killer cells, and stimulate the production of IFN-gamma by resting PBMC. NA Belongs to the IL-6 superfamily. Cytokine-cytokine receptor interaction;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Jak-STAT signaling pathway;Type I diabetes mellitus;Pertussis;Legionellosis;Leishmaniasis;Chagas disease (American trypanosomiasis);African trypanosomiasis;Malaria;Toxoplasmosis;Amoebiasis;Tuberculosis;Measles;Influenza A;Herpes simplex infection;Allograft rejection;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling;Interleukin-35 Signalling;Interleukin-12 signaling PE1 3 +NX_P29460 Interleukin-12 subunit beta 328 37169 5.52 0 Secreted Immunodeficiency 29;Psoriasis 11 Associates with IL23A to form the IL-23 interleukin, a heterodimeric cytokine which functions in innate and adaptive immunity. IL-23 may constitute with IL-17 an acute response to infection in peripheral tissues. IL-23 binds to a heterodimeric receptor complex composed of IL12RB1 and IL23R, activates the Jak-Stat signaling cascade, stimulates memory rather than naive T-cells and promotes production of proinflammatory cytokines. IL-23 induces autoimmune inflammation and thus may be responsible for autoimmune inflammatory diseases and may be important for tumorigenesis.;Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated killer cells, and stimulate the production of IFN-gamma by resting PBMC. Known to be C-mannosylated in the recombinant protein; it is not yet known for sure if the wild-type protein is also modified. Belongs to the type I cytokine receptor family. Type 3 subfamily. Cytokine-cytokine receptor interaction;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Jak-STAT signaling pathway;Type I diabetes mellitus;Pertussis;Legionellosis;Leishmaniasis;Chagas disease (American trypanosomiasis);African trypanosomiasis;Toxoplasmosis;Amoebiasis;Tuberculosis;Measles;Influenza A;Herpes simplex infection;Allograft rejection;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling;Interleukin-12 signaling;Interleukin-23 signaling PE1 5 +NX_P29466 Caspase-1 404 45159 5.63 0 Cytoplasm;Nucleoplasm;Cytosol;Cell membrane NA Thiol protease that cleaves IL-1 beta between an Asp and an Ala, releasing the mature cytokine which is involved in a variety of inflammatory processes. Important for defense against pathogens. Cleaves and activates sterol regulatory element binding proteins (SREBPs). Can also promote apoptosis. Upon inflammasome activation, during DNA virus infection but not RNA virus challenge, controls antiviral immunity through the cleavage of CGAS, rendering it inactive (PubMed:28314590). In apoptotic cells, cleaves SPHK2 which is released from cells and remains enzymatically active extracellularly (PubMed:20197547). The two subunits are derived from the precursor sequence by an autocatalytic mechanism. Belongs to the peptidase C14A family. NOD-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Amyotrophic lateral sclerosis (ALS);Salmonella infection;Pertussis;Legionellosis;Influenza A;NOD1/2 Signaling Pathway;The NLRP3 inflammasome;The AIM2 inflammasome;Interleukin-1 processing;The IPAF inflammasome;TP53 Regulates Transcription of Caspase Activators and Caspases;Interleukin-37 signaling PE1 11 +NX_P29474 Nitric oxide synthase, endothelial 1203 133275 6.94 0 Golgi apparatus;Caveola;Cytoskeleton;Cell membrane NA Lacks eNOS activity, dominant-negative form that may down-regulate eNOS activity by forming heterodimers with isoform 1.;Produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway. NO mediates vascular endothelial growth factor (VEGF)-induced angiogenesis in coronary vessels and promotes blood clotting through the activation of platelets. Phosphorylation by AMPK at Ser-1177 in the presence of Ca(2+)-calmodulin (CaM) activates activity. In absence of Ca(2+)-calmodulin, AMPK also phosphorylates Thr-495, resulting in inhibition of activity (By similarity). Phosphorylation of Ser-114 by CDK5 reduces activity. Belongs to the NOS family. Arginine and proline metabolism;Metabolic pathways;Calcium signaling pathway;VEGF signaling pathway;VEGFR2 mediated vascular permeability;ROS and RNS production in phagocytes;eNOS activation;NOSTRIN mediated eNOS trafficking;Nitric oxide stimulates guanylate cyclase;Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation;NOSIP mediated eNOS trafficking;Extra-nuclear estrogen signaling PE1 7 +NX_P29475 Nitric oxide synthase, brain 1434 160970 7.1 0 Nucleoplasm;Dendritic spine;Sarcolemma;Cell membrane NA Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In the brain and peripheral nervous system, NO displays many properties of a neurotransmitter. Probably has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such SRR. Ubiquitinated; mediated by STUB1/CHIP in the presence of Hsp70 and Hsp40 (in vitro). Belongs to the NOS family. Arginine and proline metabolism;Metabolic pathways;Calcium signaling pathway;Phagosome;Long-term depression;Salivary secretion;Alzheimer's disease;Amyotrophic lateral sclerosis (ALS);ROS and RNS production in phagocytes;Nitric oxide stimulates guanylate cyclase;Ion homeostasis PE1 12 +NX_P29508 Serpin B3 390 44565 6.35 0 Cytoplasm;Cytosol;Cell membrane NA May act as a papain-like cysteine protease inhibitor to modulate the host immune response against tumor cells. Also functions as an inhibitor of UV-induced apoptosis via suppression of the activity of c-Jun NH(2)-terminal kinase (JNK1). NA Belongs to the serpin family. Ov-serpin subfamily. Amoebiasis;Neutrophil degranulation PE1 18 +NX_P29536 Leiomodin-1 600 67030 9.35 0 Cytosol;Cytoskeleton;Sarcomere NA Mediates nucleation of actin filaments. NA Belongs to the tropomodulin family. Smooth Muscle Contraction PE1 1 +NX_P29558 RNA-binding motif, single-stranded-interacting protein 1 406 44505 8.91 0 Cytosol;Nucleus NA Single-stranded DNA binding protein that interacts with the region upstream of the MYC gene. Binds specifically to the DNA sequence motif 5'-[AT]CT[AT][AT]T-3'. Probably has a role in DNA replication. NA NA NA PE1 2 +NX_P29590 Protein PML 882 97551 5.88 0 Cytoplasm;Endoplasmic reticulum membrane;Nucleolus;Nucleoplasm;PML body;Early endosome membrane;Nucleus NA Exhibits antiviral activity against poliovirus by inducing apoptosis in infected cells through the recruitment and the activation of p53/TP53 in the PML-NBs.;Represses human foamy virus (HFV) transcription by complexing the HFV transactivator, bel1/tas, preventing its binding to viral DNA. PML may positively regulate infectious hepatitis C viral (HCV) production and isoform PML-2 may enhance adenovirus transcription.;Also: acts as a transcriptional repressor of TBX2 during cellular senescence and the repression is dependent on a functional RBL2/E2F4 repressor complex, regulates double-strand break repair in gamma-irradiation-induced DNA damage responses via its interaction with WRN, acts as a negative regulator of telomerase by interacting with TERT, and regulates PER2 nuclear localization and circadian function.;Functions via its association with PML-nuclear bodies (PML-NBs) in a wide range of important cellular processes, including tumor suppression, transcriptional regulation, apoptosis, senescence, DNA damage response, and viral defense mechanisms. Acts as the scaffold of PML-NBs allowing other proteins to shuttle in and out, a process which is regulated by SUMO-mediated modifications and interactions.;Inhibits specifically the activity of the tetrameric form of PKM. The nuclear isoforms (isoform PML-1, isoform PML-2, isoform PML-3, isoform PML-4 and isoform PML-5) in concert with SATB1 are involved in local chromatin-loop remodeling and gene expression regulation at the MHC-I locus.;Is required for efficient IFN-gamma induced MHC II gene transcription via regulation of CIITA. Cytoplasmic PML is involved in the regulation of the TGF-beta signaling pathway. PML also regulates transcription activity of ELF4 and can act as an important mediator for TNF-alpha- and IFN-alpha-mediated inhibition of endothelial cell network formation and migration.;Exhibits antiviral activity against both DNA and RNA viruses. The antiviral activity can involve one or several isoform(s) and can be enhanced by the permanent PML-NB-associated protein DAXX or by the recruitment of p53/TP53 within these structures.;Restricts varicella zoster virus (VZV) via sequestration of virion capsids in PML-NBs thereby preventing their nuclear egress and inhibiting formation of infectious virus particles. The sumoylated isoform PML-4 restricts rabies virus by inhibiting viral mRNA and protein synthesis. The cytoplasmic isoform PML-14 can restrict herpes simplex virus-1 (HHV-1) replication by sequestering the viral E3 ubiquitin-protein ligase ICP0 in the cytoplasm.;Has a multifaceted role in the regulation of apoptosis and growth suppression: activates RB1 and inhibits AKT1 via interactions with PP1 and PP2A phosphatases respectively, negatively affects the PI3K pathway by inhibiting MTOR and activating PTEN, and positively regulates p53/TP53 by acting at different levels (by promoting its acetylation and phosphorylation and by inhibiting its MDM2-dependent degradation).;Shows restriction activity towards human cytomegalovirus (HCMV) and influenza A virus strains PR8(H1N1) and ST364(H3N2). Sumoylated isoform PML-4 and isoform PML-12 show antiviral activity against encephalomyocarditis virus (EMCV) by promoting nuclear sequestration of viral polymerase (P3D-POL) within PML NBs. Acetylation at Lys-487 is essential for its nuclear localization. Deacetylated at Lys-487 by SIRT1 and this deacetylation promotes PML control of PER2 nuclear localization.;Sumoylation regulates PML's: stability in response to extracellular or intracellular stimuli, transcription directly and indirectly, through sequestration of or dissociation of the transcription factors from PML-NBs, ability to regulate apoptosis and its anti-viral activities. It is also essential for: maintaining proper PML nuclear bodies (PML-NBs) structure and normal function, recruitment of components of PML-NBs, the turnover and retention of PML in PML-NBs and the integrity of PML-NBs. Undergoes 'Lys-11'-linked sumoylation. Sumoylation on all three sites (Lys-65, Lys-160 and Lys-490) is required for nuclear body formation. Sumoylation on Lys-160 is a prerequisite for sumoylation on Lys-65. Lys-65 and Lys-160 are sumoylated by PISA1 and PIAS2. PIAS1-mediated sumoylation of PML promotes its interaction with CSNK2A1/CK2 and phosphorylation at Ser-565 which in turn triggers its ubiquitin-mediated degradation. PIAS1-mediated sumoylation of PML-RARA promotes its ubiquitin-mediated degradation. The PML-RARA fusion protein requires the coiled-coil domain for sumoylation. Sumoylation at Lys-490 by RANBP2 is essential for the proper assembly of PML-NBs. SUMO1P1/SUMO5 conjugated PML at Lys-160, Lys-380, Lys-400, Lys-490 and Lys-497, but Lys-380, Lys-400 and Lys-497 are not key acceptor lysines. SUMO1P1/SUMO5 forms polymeric chain on Lys-160 of PML by successive conjugation at 'Lys-18'; facilitating recruitment of PML-NB components, which enlarges PML. SUMO1P1/SUMO5 conjugation of PML increases SUMO2/3 conjugation, which leads to the recruitment of RNF4 and ubiquitin-dependent disintegration of PML-NBs. SUMO1P1/SUMO5 monoconjugated Lys-490 (PubMed:27211601). DNA damage triggers its sumoylation while some but not all viral infections can abolish sumoylation. Desumoylated by SENP1, SENP2, SENP3, SENP5 and SENP6 (PubMed:27211601, PubMed:12419228, PubMed:21148299). Arsenic induces PML and PML-RARA polysumoylation and their subsequent RNF4-dependent ubiquitination and proteasomal degradation, and is used as treatment in acute promyelocytic leukemia (APL). The nuclear isoforms (isoform PML-1, isoform PML-2, isoform PML-3, isoform PML-4, isoform PML-5 and isoform PML-6) show an increased sumoylation in response to arsenic trioxide. The cytoplasmic isoform PML-7 is not sumoylated.;Phosphorylation is a major regulatory mechanism that controls PML protein abundance and the number and size of PML nuclear bodies (PML-NBs). Phosphorylated in response to DNA damage, probably by ATR. HIPK2-mediated phosphorylation at Ser-8, Ser-36 and Ser-38 leads to increased accumulation of PML protein and its sumoylation and is required for the maximal pro-apoptotic activity of PML after DNA damage. CHEK2-mediated phosphorylation at Ser-117 is important for PML-mediated apoptosis following DNA damage. MAPK1-mediated phosphorylations at Ser-403, Ser-505, Ser-527 and Ser-530 and CDK1/2-mediated phosphorylation at Ser-518 promote PIN1-dependent PML degradation. CK2-mediated phosphorylation at Ser-565 primes PML ubiquitination via an unidentified ubiquitin ligase.;Ubiquitinated; mediated by RNF4, RNF111, UHRF1, UBE3A/E6AP, BCR(KLHL20) E3 ubiquitin ligase complex E3 ligase complex, SIAH1 or SIAH2 and leading to subsequent proteasomal degradation (PubMed:18408734, PubMed:21840486, PubMed:22033920). Ubiquitination by BCR(KLHL20) E3 ubiquitin ligase complex E3 ligase complex requires CDK1/2-mediated phosphorylation at Ser-518 which in turn is recognized by prolyl-isopeptidase PIN1 and PIN1-catalyzed isomerization further potentiates PML interaction with KLHL20 (PubMed:21840486, PubMed:22033920). 'Lys-6'-, 'Lys-11'-, 'Lys-48'- and 'Lys-63'-linked polyubiquitination by RNF4 is polysumoylation-dependent (PubMed:18408734). Ubiquitination by RNF111 is polysumoylation-dependent (By similarity).;PML is phosphorylated by CHEK2;PML is phosphorylated by ATR NA Ubiquitin mediated proteolysis;Endocytosis;Influenza A;Herpes simplex infection;Pathways in cancer;Acute myeloid leukemia;SUMOylation of DNA damage response and repair proteins;Interferon gamma signaling;Regulation of TP53 Activity through Acetylation;Regulation of PTEN localization;Regulation of RUNX1 Expression and Activity;SUMOylation of ubiquitinylation proteins;Transcriptional regulation of granulopoiesis PE1 15 +NX_P29597 Non-receptor tyrosine-protein kinase TYK2 1187 133650 6.71 0 Cytosol Immunodeficiency 35 Probably involved in intracellular signal transduction by being involved in the initiation of type I IFN signaling. Phosphorylates the interferon-alpha/beta receptor alpha chain. NA Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily. Osteoclast differentiation;Jak-STAT signaling pathway;Toxoplasmosis;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Interferon alpha/beta signaling;Regulation of IFNA signaling;MAPK3 (ERK1) activation;Interleukin-6 signaling;MAPK1 (ERK2) activation;Interleukin-20 family signaling;IL-6-type cytokine receptor ligand interactions;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling;Other interleukin signaling;Interleukin-35 Signalling;Interleukin-12 signaling;Interleukin-23 signaling;Interleukin-27 signaling PE1 19 +NX_P29622 Kallistatin 427 48542 7.34 0 Secreted NA Inhibits human amidolytic and kininogenase activities of tissue kallikrein. Inhibition is achieved by formation of an equimolar, heat- and SDS-stable complex between the inhibitor and the enzyme, and generation of a small C-terminal fragment of the inhibitor due to cleavage at the reactive site by tissue kallikrein. The N-terminus is blocked. Belongs to the serpin family. Platelet degranulation PE1 14 +NX_P29692 Elongation factor 1-delta 281 31122 4.9 0 Nucleoplasm;Nucleolus;Nucleus NA Regulates induction of heat-shock-responsive genes through association with heat shock transcription factors and direct DNA-binding at heat shock promoter elements (HSE).;EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP, regenerating EF-1-alpha for another round of transfer of aminoacyl-tRNAs to the ribosome. NA Belongs to the EF-1-beta/EF-1-delta family. Herpes simplex infection;Eukaryotic Translation Elongation PE1 8 +NX_P29728 2'-5'-oligoadenylate synthase 2 719 82431 8.55 0 Cytoplasm;Centrosome;Perinuclear region NA Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response (PubMed:10464285, PubMed:9880569). Activated by detection of double stranded RNA (dsRNA): polymerizes higher oligomers of 2'-5'-oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNASEL) leading to its dimerization and subsequent activation (PubMed:10464285, PubMed:9880569, PubMed:11682059). Activation of RNASEL leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication (PubMed:10464285, PubMed:9880569). Can mediate the antiviral effect via the classical RNASEL-dependent pathway or an alternative antiviral pathway independent of RNASEL (PubMed:21142819). In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation (PubMed:21142819). May act as a negative regulator of lactation, stopping lactation in virally infected mammary gland lobules, thereby preventing transmission of viruses to neonates (By similarity). Non-infected lobules would not be affected, allowing efficient pup feeding during infection (By similarity). Glycosylated. Glycosylation is essential for its activity.;Myristoylation is not essential for its activity. Belongs to the 2-5A synthase family. Hepatitis C;Measles;Influenza A;Herpes simplex infection;Interferon gamma signaling;Interferon alpha/beta signaling;OAS antiviral response PE1 12 +NX_P29762 Cellular retinoic acid-binding protein 1 137 15566 5.3 0 Cytoplasm NA Cytosolic CRABPs may regulate the access of retinoic acid to the nuclear retinoic acid receptors. NA Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. RA biosynthesis pathway PE1 15 +NX_P29803 Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial 388 42933 8.76 0 Mitochondrion matrix NA The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle. Phosphorylation at Ser-205, Ser-266 and Ser-273 by PDK family kinases inactivates the enzyme; for this phosphorylation at a single site is sufficient. Phosphorylation at Ser-266 interferes with access to active site, and thereby inactivates the enzyme. Dephosphorylation at all three sites, i.e. At Ser-205, Ser-266 and Ser-273, is required for reactivation. NA Glycolysis / Gluconeogenesis;Citrate cycle (TCA cycle);Valine, leucine and isoleucine biosynthesis;Pyruvate metabolism;Butanoate metabolism;Metabolic pathways;Signaling by Retinoic Acid;Regulation of pyruvate dehydrogenase (PDH) complex;Pyruvate metabolism;Glyoxylate metabolism and glycine degradation PE1 4 +NX_P29965 CD40 ligand 261 29274 8.53 1 Cell surface;Secreted;Cell membrane Immunodeficiency with hyper-IgM, type 1 Cytokine that binds to CD40/TNFRSF5 (PubMed:1280226). Costimulates T-cell proliferation and cytokine production. Its cross-linking on T-cells generates a costimulatory signal which enhances the production of IL4 and IL10 in conjunction with the TCR/CD3 ligation and CD28 costimulation (PubMed:8617933). Induces the activation of NF-kappa-B and kinases MAPK8 and PAK2 in T-cells. Induces tyrosine phosphorylation of isoform 3 of CD28 (PubMed:15067037). Mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL4. Involved in immunoglobulin class switching (By similarity).;Release of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and a matrix metalloproteinases (MMP) inhibitor-sensitive pathway. The soluble form derives from the membrane form by proteolytic processing.;N-linked glycan is a mixture of high mannose and complex type. Glycan structure does not influence binding affinity to CD40.;Not O-glycosylated. Belongs to the tumor necrosis factor family. Cytokine-cytokine receptor interaction;Cell adhesion molecules (CAMs);T cell receptor signaling pathway;Intestinal immune network for IgA production;Malaria;Toxoplasmosis;Asthma;Autoimmune thyroid disease;Systemic lupus erythematosus;Allograft rejection;Primary immunodeficiency;Viral myocarditis;TNFR2 non-canonical NF-kB pathway;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway PE1 X +NX_P29966 Myristoylated alanine-rich C-kinase substrate 332 31555 4.47 0 Cell membrane;Membrane;Endoplasmic reticulum;Nucleoplasm;Cytosol;Cytoskeleton NA MARCKS is the most prominent cellular substrate for protein kinase C. This protein binds calmodulin, actin, and synapsin. MARCKS is a filamentous (F) actin cross-linking protein. Phosphorylation by PKC displaces MARCKS from the membrane. It also inhibits the F-actin cross-linking activity.;MARCKS is phosphorylated by PKN1 (Phosphoserine:PTM-0253);MARCKS is phosphorylated by PRKCE (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the MARCKS family. Fc gamma R-mediated phagocytosis;Acetylcholine regulates insulin secretion PE1 6 +NX_P29972 Aquaporin-1 269 28526 6.95 6 Cell membrane NA Forms a water-specific channel that provides the plasma membranes of red cells and kidney proximal tubules with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. NA Belongs to the MIP/aquaporin (TC 1.A.8) family. Proximal tubule bicarbonate reclamation;Bile secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Passive transport by Aquaporins;Erythrocytes take up carbon dioxide and release oxygen;Erythrocytes take up oxygen and release carbon dioxide PE1 7 +NX_P29973 cGMP-gated cation channel alpha-1 690 79586 7.85 6 Cytoplasmic vesicle;Nucleoplasm;Membrane;Cell membrane Retinitis pigmentosa 49 Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors. NA Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA1 subfamily. Phototransduction;Activation of the phototransduction cascade;Inactivation, recovery and regulation of the phototransduction cascade PE1 4 +NX_P29992 Guanine nucleotide-binding protein subunit alpha-11 359 42123 5.51 0 Cytoplasm;Cell membrane Hypocalcemia, autosomal dominant 2;Hypocalciuric hypercalcemia, familial 2 Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Acts as an activator of phospholipase C. (Microbial infection) Deamidated at Gln-209 by Photorhabdus asymbiotica toxin PAU_02230, blocking GTP hydrolysis of heterotrimeric GNAQ or GNA11 and G-alphai (GNAI1, GNAI2 or GNAI3) proteins, thereby activating RhoA. Belongs to the G-alpha family. G(q) subfamily. Calcium signaling pathway;Vascular smooth muscle contraction;Gap junction;Cholinergic synapse;Long-term depression;GnRH signaling pathway;Chagas disease (American trypanosomiasis);Amoebiasis;G alpha (q) signalling events;ADP signalling through P2Y purinoceptor 1;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion;Acetylcholine regulates insulin secretion PE1 19 +NX_P30038 Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial 563 61719 8.25 0 Mitochondrion matrix Hyperprolinemia 2 Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes. NA Belongs to the aldehyde dehydrogenase family. Amino-acid degradation; L-proline degradation into L-glutamate; L-glutamate from L-proline: step 2/2.;Alanine, aspartate and glutamate metabolism;Arginine and proline metabolism;Metabolic pathways;Glyoxylate metabolism and glycine degradation;Proline catabolism PE1 1 +NX_P30039 Phenazine biosynthesis-like domain-containing protein 288 31785 6.06 0 Cytoplasmic vesicle NA NA NA Belongs to the PhzF family. NA PE1 10 +NX_P30040 Endoplasmic reticulum resident protein 29 261 28993 6.77 0 Endoplasmic reticulum;Nucleoplasm;Melanosome;Endoplasmic reticulum lumen;Cytoskeleton NA Does not seem to be a disulfide isomerase. Plays an important role in the processing of secretory proteins within the endoplasmic reticulum (ER), possibly by participating in the folding of proteins in the ER. NA NA Protein processing in endoplasmic reticulum PE1 12 +NX_P30041 Peroxiredoxin-6 224 25035 6 0 Cytoplasm;Cytosol;Lysosome;Cell membrane NA Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. Also has phospholipase activity, and can therefore either reduce the oxidized sn-2 fatty acyl grup of phospholipids (peroxidase activity) or hydrolyze the sn-2 ester bond of phospholipids (phospholipase activity). These activities are dependent on binding to phospholipids at acidic pH and to oxidized phospholipds at cytosolic pH. Plays a role in cell protection against oxidative stress by detoxifying peroxides and in phospholipid homeostasis. Phosphorylation at Thr-177 by MAP kinases increases the phospholipase activity of the enzyme.;Irreversibly inactivated by overoxidation of Cys-47 to sulfinic acid (Cys-SO(2)H) and sulfonic acid (Cys-SO(3)H) forms upon oxidative stress. Belongs to the peroxiredoxin family. Prx6 subfamily. Phenylalanine metabolism;Metabolic pathways;Detoxification of Reactive Oxygen Species;Neutrophil degranulation PE1 1 +NX_P30043 Flavin reductase (NADPH) 206 22119 7.13 0 Nucleoplasm;Cytosol;Cytoplasm;Cell membrane NA Broad specificity oxidoreductase that catalyzes the NADPH-dependent reduction of a variety of flavins, such as riboflavin, FAD or FMN, biliverdins, methemoglobin and PQQ (pyrroloquinoline quinone). Contributes to heme catabolism and metabolizes linear tetrapyrroles. Can also reduce the complexed Fe(3+) iron to Fe(2+) in the presence of FMN and NADPH. In the liver, converts biliverdin to bilirubin. NA NA Riboflavin metabolism;Porphyrin and chlorophyll metabolism;Heme degradation PE1 19 +NX_P30044 Peroxiredoxin-5, mitochondrial 214 22086 8.93 0 Cytoplasm;Mitochondrion;Peroxisome matrix NA Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events. NA Belongs to the peroxiredoxin family. Prx5 subfamily. Peroxisome;Detoxification of Reactive Oxygen Species;TP53 Regulates Metabolic Genes PE1 11 +NX_P30046 D-dopachrome decarboxylase 118 12712 6.72 0 Cytoplasm;Mitochondrion NA Tautomerization of D-dopachrome with decarboxylation to give 5,6-dihydroxyindole (DHI). NA Belongs to the MIF family. Dopaminergic synapse PE1 22 +NX_P30047 GTP cyclohydrolase 1 feedback regulatory protein 84 9698 6.08 0 Cytoplasm;Nucleus membrane;Nucleoplasm;Cytosol;Nucleus NA Mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase 1. This inhibition is reversed by L-phenylalanine. NA Belongs to the GFRP family. Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation PE1 15 +NX_P30048 Thioredoxin-dependent peroxide reductase, mitochondrial 256 27693 7.68 0 Cytoplasm;Early endosome;Mitochondrion NA Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides (PubMed:7733872, PubMed:17707404). Acts synergistically with MAP3K13 to regulate the activation of NF-kappa-B in the cytosol (PubMed:12492477). Phosphorylated by LRRK2; phosphorylation reduces perodixase activity.;The enzyme can be inactivated by further oxidation of the cysteine sulfenic acid (C(P)-SOH) to sulphinic acid (C(P)-SO2H) and sulphonic acid (C(P)-SO3H) instead of its condensation to a disulfide bond.;PRDX3 is phosphorylated by NEK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the peroxiredoxin family. AhpC/Prx1 subfamily. Detoxification of Reactive Oxygen Species PE1 10 +NX_P30049 ATP synthase subunit delta, mitochondrial 168 17490 5.38 0 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex V deficiency, nuclear type 5 Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (PubMed:29478781). F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP turnover in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (PubMed:1531933). NA Belongs to the ATPase epsilon chain family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Formation of ATP by chemiosmotic coupling;Cristae formation PE1 19 +NX_P30050 60S ribosomal protein L12 165 17819 9.48 0 Golgi apparatus NA Binds directly to 26S ribosomal RNA. RPL12 is phosphorylated by MAPK3 Belongs to the universal ribosomal protein uL11 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 9 +NX_P30084 Enoyl-CoA hydratase, mitochondrial 290 31387 8.34 0 Mitochondrion matrix;Mitochondrion Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate. Has high substrate specificity for crotonyl-CoA and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA and methacrylyl-CoA. It is noteworthy that binds tiglyl-CoA, but hydrates only a small amount of this substrate. NA Belongs to the enoyl-CoA hydratase/isomerase family. Lipid metabolism; fatty acid beta-oxidation.;Fatty acid elongation;Fatty acid metabolism;Valine, leucine and isoleucine degradation;Lysine degradation;Tryptophan metabolism;beta-Alanine metabolism;Propanoate metabolism;Butanoate metabolism;Metabolic pathways;Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA;Beta oxidation of octanoyl-CoA to hexanoyl-CoA;Beta oxidation of hexanoyl-CoA to butanoyl-CoA;Beta oxidation of butanoyl-CoA to acetyl-CoA;Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA PE1 10 +NX_P30085 UMP-CMP kinase 196 22222 5.44 0 Nucleoplasm;Cytoplasm;Nucleus NA Catalyzes the phosphorylation of pyrimidine nucleoside monophosphates at the expense of ATP. Plays an important role in de novo pyrimidine nucleotide biosynthesis. Has preference for UMP and CMP as phosphate acceptors. Also displays broad nucleoside diphosphate kinase activity. NA Belongs to the adenylate kinase family. UMP-CMP kinase subfamily. Pyrimidine metabolism;Metabolic pathways;Interconversion of nucleotide di- and triphosphates PE1 1 +NX_P30086 Phosphatidylethanolamine-binding protein 1 187 21057 7.01 0 Cytoplasm;Cell membrane NA HCNP may be involved in the function of the presynaptic cholinergic neurons of the central nervous system. HCNP increases the production of choline acetyltransferase but not acetylcholinesterase. Seems to be mediated by a specific receptor (By similarity).;Binds ATP, opioids and phosphatidylethanolamine. Has lower affinity for phosphatidylinositol and phosphatidylcholine. Serine protease inhibitor which inhibits thrombin, neuropsin and chymotrypsin but not trypsin, tissue type plasminogen activator and elastase (By similarity). Inhibits the kinase activity of RAF1 by inhibiting its activation and by dissociating the RAF1/MEK complex and acting as a competitive inhibitor of MEK phosphorylation. NA Belongs to the phosphatidylethanolamine-binding protein family. Negative regulation of MAPK pathway;MAP2K and MAPK activation;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 12 +NX_P30101 Protein disulfide-isomerase A3 505 56782 5.98 0 Endoplasmic reticulum;Endoplasmic reticulum lumen;Melanosome NA NA PDIA3 is phosphorylated by MAPK3 Belongs to the protein disulfide isomerase family. Protein processing in endoplasmic reticulum;Antigen processing and presentation;ER-Phagosome pathway;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;Calnexin/calreticulin cycle PE1 15 +NX_P30153 Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform 589 65309 5 0 Cytoplasm;Lateral cell membrane;Centromere;Cytosol;Dendrite;Nucleus Mental retardation, autosomal dominant 36 The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. Upon interaction with GNA12 promotes dephosphorylation of microtubule associated protein TAU/MAPT (PubMed:15525651). Required for proper chromosome segregation and for centromeric localization of SGO1 in mitosis (PubMed:16580887). NA Belongs to the phosphatase 2A regulatory subunit A family. mRNA surveillance pathway;Oocyte meiosis;Wnt signaling pathway;TGF-beta signaling pathway;Tight junction;Dopaminergic synapse;Long-term depression;Chagas disease (American trypanosomiasis);Hepatitis C;Degradation of beta-catenin by the destruction complex;Separation of Sister Chromatids;Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Negative regulation of MAPK pathway;Initiation of Nuclear Envelope Reformation;Cyclin A/B1/B2 associated events during G2/M transition;MASTL Facilitates Mitotic Progression;RAF activation;DARPP-32 events;Recruitment of NuMA to mitotic centrosomes;Disassembly of the destruction complex and recruitment of AXIN to the membrane;Inhibition of replication initiation of damaged DNA by RB1/E2F1;Cyclin D associated events in G1;CTLA4 inhibitory signaling;Beta-catenin phosphorylation cascade;Misspliced GSK3beta mutants stabilize beta-catenin;S33 mutants of beta-catenin aren't phosphorylated;S37 mutants of beta-catenin aren't phosphorylated;S45 mutants of beta-catenin aren't phosphorylated;T41 mutants of beta-catenin aren't phosphorylated;APC truncation mutants have impaired AXIN binding;AXIN missense mutants destabilize the destruction complex;Truncations of AMER1 destabilize the destruction complex;Spry regulation of FGF signaling;Platelet sensitization by LDL;ERK/MAPK targets;Integration of energy metabolism;PP2A-mediated dephosphorylation of key metabolic factors;ERKs are inactivated;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;AURKA Activation by TPX2;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Regulation of TP53 Degradation;Regulation of glycolysis by fructose 2,6-bisphosphate metabolism PE1 19 +NX_P30154 Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform 601 66214 4.84 0 Nucleoplasm;Cytosol;Centrosome;Cell membrane NA The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. NA Belongs to the phosphatase 2A regulatory subunit A family. mRNA surveillance pathway;Oocyte meiosis;Wnt signaling pathway;TGF-beta signaling pathway;Tight junction;Dopaminergic synapse;Long-term depression;Chagas disease (American trypanosomiasis);Hepatitis C;Degradation of beta-catenin by the destruction complex;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Negative regulation of MAPK pathway;Cyclin A/B1/B2 associated events during G2/M transition;MASTL Facilitates Mitotic Progression;RAF activation;DARPP-32 events;Disassembly of the destruction complex and recruitment of AXIN to the membrane;Inhibition of replication initiation of damaged DNA by RB1/E2F1;Cyclin D associated events in G1;CTLA4 inhibitory signaling;Beta-catenin phosphorylation cascade;Misspliced GSK3beta mutants stabilize beta-catenin;S33 mutants of beta-catenin aren't phosphorylated;S37 mutants of beta-catenin aren't phosphorylated;S45 mutants of beta-catenin aren't phosphorylated;T41 mutants of beta-catenin aren't phosphorylated;APC truncation mutants have impaired AXIN binding;AXIN missense mutants destabilize the destruction complex;Truncations of AMER1 destabilize the destruction complex;Platelet sensitization by LDL;ERK/MAPK targets;Integration of energy metabolism;PP2A-mediated dephosphorylation of key metabolic factors;ERKs are inactivated;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Regulation of TP53 Degradation;Regulation of glycolysis by fructose 2,6-bisphosphate metabolism PE1 11 +NX_P30203 T-cell differentiation antigen CD6 668 71801 4.82 1 Secreted;Cell membrane NA Cell adhesion molecule that mediates cell-cell contacts and regulates T-cell responses via its interaction with ALCAM/CD166 (PubMed:15048703, PubMed:15294938, PubMed:16352806, PubMed:16914752, PubMed:24945728, PubMed:24584089). Contributes to signaling cascades triggered by activation of the TCR/CD3 complex (PubMed:24584089). Functions as costimulatory molecule; promotes T-cell activation and proliferation (PubMed:15294938, PubMed:16352806, PubMed:16914752). Contributes to the formation and maturation of the immunological synapse (PubMed:15294938, PubMed:16352806). Functions as calcium-dependent pattern receptor that binds and aggregates both Gram-positive and Gram-negative bacteria. Binds both lipopolysaccharide (LPS) from Gram-negative bacteria and lipoteichoic acid from Gram-positive bacteria (PubMed:17601777). LPS binding leads to the activation of signaling cascades and down-stream MAP kinases (PubMed:17601777). Mediates activation of the inflammatory response and the secretion of pro-inflammatory cytokines in response to LPS (PubMed:17601777). After T-cell activation, becomes hyperphosphorylated on Ser and Thr residues and phosphorylated on Tyr residues.;Glycosylated. NA Cell adhesion molecules (CAMs) PE1 11 +NX_P30260 Cell division cycle protein 27 homolog 824 91867 6.59 0 Cytoplasm;Nucleoplasm;Nucleus NA Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Phosphorylated. Phosphorylation on Ser-426 and Thr-446 occurs specifically during mitosis. Belongs to the APC3/CDC27 family. Protein modification; protein ubiquitination.;Cell cycle;Oocyte meiosis;Ubiquitin mediated proteolysis;Progesterone-mediated oocyte maturation;HTLV-I infection;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;CDK-mediated phosphorylation and removal of Cdc6;Antigen processing: Ubiquitination & Proteasome degradation;Senescence-Associated Secretory Phenotype (SASP);Autodegradation of Cdh1 by Cdh1:APC/C;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of Cyclin B;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;APC/C:Cdc20 mediated degradation of mitotic proteins;Phosphorylation of the APC/C;APC-Cdc20 mediated degradation of Nek2A PE1 17 +NX_P30273 High affinity immunoglobulin epsilon receptor subunit gamma 86 9667 6.54 1 Cell membrane NA Adapter protein containing an immunoreceptor tyrosine-based activation motif (ITAM) that transduces activation signals from various immunoreceptors. As a component of the high-affinity immunoglobulin E (IgE) receptor, mediates allergic inflammatory signaling in mast cells. As a constitutive component of interleukin-3 receptor complex, selectively mediates interleukin 4/IL4 production by basophils, priming T-cells toward effector T-helper 2 subset. Associates with pattern recognition receptors CLEC4D and CLEC4E to form a functional signaling complex in myeloid cells. Binding of mycobacterial trehalose 6,6'-dimycolate (TDM) to this receptor complex leads to phosphorylation of ITAM, triggering activation of SYK, CARD9 and NF-kappa-B, consequently driving maturation of antigen-presenting cells and shaping antigen-specific priming of T-cells toward effector T-helper 1 and T-helper 17 cell subtypes. May function cooperatively with other activating receptors. Functionally linked to integrin beta-2/ITGB2-mediated neutrophil activation. Also involved in integrin alpha-2/ITGA2-mediated platelet activation. NA Belongs to the CD3Z/FCER1G family. Natural killer cell mediated cytotoxicity;Fc epsilon RI signaling pathway;Tuberculosis;Asthma;FCERI mediated NF-kB activation;Role of LAT2/NTAL/LAB on calcium mobilization;GPVI-mediated activation cascade;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Dectin-2 family;Fc epsilon receptor (FCERI) signaling;Platelet Adhesion to exposed collagen;Neutrophil degranulation PE1 1 +NX_P30279 G1/S-specific cyclin-D2 289 33067 5.06 0 Membrane;Cytoplasm;Nucleoplasm;Nucleus Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Regulatory component of the cyclin D2-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also substrate for SMAD3, phosphorylating SMAD3 in a cell-cycle-dependent manner and repressing its transcriptional activity. Component of the ternary complex, cyclin D2/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex (By similarity). Polyubiquitinated by the SCF(FBXL2) complex, leading to proteasomal degradation. Belongs to the cyclin family. Cyclin D subfamily. Cell cycle;p53 signaling pathway;Wnt signaling pathway;Focal adhesion;Jak-STAT signaling pathway;Measles;HTLV-I infection;Cyclin D associated events in G1;Regulation of RUNX1 Expression and Activity PE1 12 +NX_P30281 G1/S-specific cyclin-D3 292 32520 6.66 0 Cytoplasm;Membrane;Nucleoplasm;Cytosol;Nucleus NA Regulatory component of the cyclin D3-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also substrate for SMAD3, phosphorylating SMAD3 in a cell-cycle-dependent manner and repressing its transcriptional activity. Component of the ternary complex, cyclin D3/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex. Polyubiquitinated by the SCF(FBXL2) complex, leading to proteasomal degradation. Belongs to the cyclin family. Cyclin D subfamily. Cell cycle;p53 signaling pathway;Wnt signaling pathway;Focal adhesion;Jak-STAT signaling pathway;Measles;HTLV-I infection;MAPK6/MAPK4 signaling;Transcriptional regulation of white adipocyte differentiation;Cyclin D associated events in G1;Regulation of RUNX1 Expression and Activity PE1 6 +NX_P30291 Wee1-like protein kinase 646 71597 6.33 0 Nucleolus;Nucleus NA Acts as a negative regulator of entry into mitosis (G2 to M transition) by protecting the nucleus from cytoplasmically activated cyclin B1-complexed CDK1 before the onset of mitosis by mediating phosphorylation of CDK1 on 'Tyr-15'. Specifically phosphorylates and inactivates cyclin B1-complexed CDK1 reaching a maximum during G2 phase and a minimum as cells enter M phase. Phosphorylation of cyclin B1-CDK1 occurs exclusively on 'Tyr-15' and phosphorylation of monomeric CDK1 does not occur. Its activity increases during S and G2 phases and decreases at M phase when it is hyperphosphorylated. A correlated decrease in protein level occurs at M/G1 phase, probably due to its degradation. Ubiquitinated and degraded at the onset of G2/M phase.;Dephosphorylated at Thr-239 by CTDP1.;Phosphorylated during M and G1 phases. Also autophosphorylated. Phosphorylation at Ser-642 by BRSK1 and BRSK2 in post-mitotic neurons, leads to down-regulate WEE1 activity in polarized neurons. Phosphorylated at Ser-53 and Ser-123 by PLK1 and CDK1, respectively, generating an signal for degradation that can be recognized by the SCF(BTRC) complex, leading to its ubiquitination and degradation at the onset of G2/M phase. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WEE1 subfamily. Cell cycle;Factors involved in megakaryocyte development and platelet production;Polo-like kinase mediated events;Cyclin E associated events during G1/S transition;Cyclin A/B1/B2 associated events during G2/M transition;G2/M DNA replication checkpoint;Cyclin A:Cdk2-associated events at S phase entry;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex PE1 11 +NX_P30301 Lens fiber major intrinsic protein 263 28122 8.62 6 Gap junction;Cell membrane Cataract 15, multiple types Water channel (PubMed:24120416). Channel activity is down-regulated by CALM when cytoplasmic Ca(2+) levels are increased. May be responsible for regulating the osmolarity of the lens. Interactions between homotetramers from adjoining membranes may stabilize cell junctions in the eye lens core (By similarity). Plays a role in cell-to-cell adhesion and facilitates gap junction coupling (PubMed:24120416). Subject to partial proteolytic cleavage in the eye lens core. Partial proteolysis promotes interactions between tetramers from adjoining membranes (By similarity).;Fatty acylated at Met-1 and Lys-238. The acyl modifications, in decreasing order of ion abundance, are: oleoyl (C18:1) > palmitoyl (C16:0) > stearoyl (C18:0) > eicosenoyl (C20:1) > dihomo-gamma-linolenoyl (C20:3) > palmitoleoyl (C16:1) > eicosadienoyl (C20:2). Belongs to the MIP/aquaporin (TC 1.A.8) family. Passive transport by Aquaporins PE1 12 +NX_P30304 M-phase inducer phosphatase 1 524 59087 6.49 0 Golgi apparatus;Cytoplasmic vesicle;Nucleoplasm NA Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression. Directly dephosphorylates CDK1 and stimulates its kinase activity. Also dephosphorylates CDK2 in complex with cyclin E, in vitro. Ubiquitinated by the anaphase promoting complex/cyclosome (APC/C) ubiquitin ligase complex that contains FZR1/CDH1 during G1 phase leading to its degradation by the proteasome. Ubiquitinated by a SCF complex containing BTRC and FBXW11 during S phase leading to its degradation by the proteasome. Deubiquitination by USP17L2/DUB3 leads to its stabilization.;Phosphorylated by CHEK1 on Ser-76, Ser-124, Ser-178, Ser-279, Ser-293 and Thr-507 during checkpoint mediated cell cycle arrest. Also phosphorylated by CHEK2 on Ser-124, Ser-279, and Ser-293 during checkpoint mediated cell cycle arrest. Phosphorylation on Ser-178 and Thr-507 creates binding sites for YWHAE/14-3-3 epsilon which inhibits CDC25A. Phosphorylation on Ser-76, Ser-124, Ser-178, Ser-279 and Ser-293 may also promote ubiquitin-dependent proteolysis of CDC25A by the SCF complex. Phosphorylation of CDC25A at Ser-76 by CHEK1 primes it for subsequent phosphorylation at Ser-79, Ser-82 and Ser-88 by NEK11. Phosphorylation by NEK11 is required for BTRC-mediated polyubiquitination and degradation. Phosphorylation by PIM1 leads to an increase in phosphatase activity. Phosphorylated by PLK3 following DNA damage, leading to promote its ubiquitination and degradation.;CDC25A is phosphorylated by PIM2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);CDC25A is phosphorylated by PIM1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);CDC25A is phosphorylated by CHEK2 Belongs to the MPI phosphatase family. Cell cycle;Progesterone-mediated oocyte maturation;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Activation of ATR in response to replication stress;Polo-like kinase mediated events;Cyclin E associated events during G1/S transition;Cyclin A/B1/B2 associated events during G2/M transition;Cyclin A:Cdk2-associated events at S phase entry;Ub-specific processing proteases;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models;Transcription of E2F targets under negative control by DREAM complex PE1 3 +NX_P30305 M-phase inducer phosphatase 2 580 64987 6 0 Cytoplasmic vesicle;Spindle pole;Spindle;Centrosome NA Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression. Required for G2/M phases of the cell cycle progression and abscission during cytokinesis in a ECT2-dependent manner. Directly dephosphorylates CDK1 and stimulates its kinase activity. The three isoforms seem to have a different level of activity. Phosphorylated by BRSK1 in vitro. Phosphorylated by CHEK1, which inhibits the activity of this protein. Phosphorylation at Ser-353 by AURKA might locally participate in the control of the onset of mitosis. Phosphorylation by MELK at Ser-169 promotes localization to the centrosome and the spindle poles during mitosis. Phosphorylation at Ser-323 and Ser-375 by MAPK14 is required for binding to 14-3-3 proteins. Belongs to the MPI phosphatase family. MAPK signaling pathway;Cell cycle;Progesterone-mediated oocyte maturation;Cyclin A/B1/B2 associated events during G2/M transition;Cyclin A:Cdk2-associated events at S phase entry;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models PE1 20 +NX_P30307 M-phase inducer phosphatase 3 473 53365 6.34 0 Nucleus speckle;Nucleus NA Functions as a dosage-dependent inducer in mitotic control. Tyrosine protein phosphatase required for progression of the cell cycle. When phosphorylated, highly effective in activating G2 cells into prophase. Directly dephosphorylates CDK1 and activates its kinase activity. Phosphorylated by CHEK1 and MAPK14 at Ser-216. This phosphorylation creates a binding site for 14-3-3 protein and inhibits the phosphatase. Phosphorylated by PLK4. Phosphorylated by PLK1, leading to activate the phosphatase activity. Phosphorylation by PLK3 at Ser-191 promotes nuclear translocation. Ser-198 is a minor phosphorylation site. Was initially reported to be phosphorylated by PLK3 at Ser-216 (PubMed:10557092). However, such phosphorylation by PLK3 was not confirmed by other groups. Phosphorylation at Thr-48, Thr-67, Ser-122, Thr-130, Ser-168 and Ser-214 occurs at G2 and G2-M transition and is probably catalyzed by CDK1. Ser-168 phosphorylation levels are lower than those at the other 5 CDK1 sites. Phosphorylation by CDK1 leads to increased activity.;CDC25C is phosphorylated by PLK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);CDC25C is phosphorylated by PLK4;CDC25C is phosphorylated by PLK3 (Phosphoserine,Phosphothreonine:PTM-0253,PTM-0254);CDC25C is phosphorylated by PIM1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the MPI phosphatase family. Cell cycle;Oocyte meiosis;Progesterone-mediated oocyte maturation;Activation of ATR in response to replication stress;Polo-like kinase mediated events;Cyclin A/B1/B2 associated events during G2/M transition;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;RHO GTPases activate PKNs;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models PE1 5 +NX_P30405 Peptidyl-prolyl cis-trans isomerase F, mitochondrial 207 22040 9.49 0 Mitochondrion matrix;Mitochondrion NA PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Involved in regulation of the mitochondrial permeability transition pore (mPTP). It is proposed that its association with the mPTP is masking a binding site for inhibiting inorganic phosphate (Pi) and promotes the open probability of the mPTP leading to apoptosis or necrosis; the requirement of the PPIase activity for this function is debated. In cooperation with mitochondrial TP53 is involved in activating oxidative stress-induced necrosis. Involved in modulation of mitochondrial membrane F(1)F(0) ATP synthase activity and regulation of mitochondrial matrix adenine nucleotide levels. Has anti-apoptotic activity independently of mPTP and in cooperation with BCL2 inhibits cytochrome c-dependent apoptosis. Deacetylated at Lys-167 by SIRT3. Belongs to the cyclophilin-type PPIase family. Toxoplasmosis PE1 10 +NX_P30408 Transmembrane 4 L6 family member 1 202 21632 4.88 4 Membrane;Cell membrane NA NA NA Belongs to the L6 tetraspanin family. NA PE1 3 +NX_P30411 B2 bradykinin receptor 391 44461 8.5 7 Cell membrane NA Receptor for bradykinin. It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. NA Belongs to the G-protein coupled receptor 1 family. Bradykinin receptor subfamily. BDKRB2 sub-subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Complement and coagulation cascades;Regulation of actin cytoskeleton;Endocrine and other factor-regulated calcium reabsorption;Chagas disease (American trypanosomiasis);G alpha (i) signalling events;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 14 +NX_P30414 NK-tumor recognition protein 1462 165677 10.01 0 Nucleoplasm;Cytosol;Cell membrane NA PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Component of a putative tumor-recognition complex involved in the function of NK cells (PubMed:8421688). NA NA NA PE1 3 +NX_P30419 Glycylpeptide N-tetradecanoyltransferase 1 496 56806 7.65 0 Membrane;Cytoplasm;Cytosol;Cell membrane NA Adds a myristoyl group to the N-terminal glycine residue of certain cellular and viral proteins. NA Belongs to the NMT family. Activation, myristolyation of BID and translocation to mitochondria;Inactivation, recovery and regulation of the phototransduction cascade;Late Phase of HIV Life Cycle PE1 17 +NX_P30511 HLA class I histocompatibility antigen, alpha chain F 346 39062 5.37 1 Early endosome membrane;Lysosome membrane;Cell membrane NA Non-classical major histocompatibility class Ib molecule postulated to play a role in immune surveillance, immune tolerance and inflammation. Functions in two forms, as a heterotrimeric complex with B2M/beta-2 microglobulin and a peptide (peptide-bound HLA-F-B2M) and as an open conformer (OC) devoid of peptide and B2M (peptide-free OC). In complex with B2M, presents non-canonical self-peptides carrying post-translational modifications, particularly phosphorylated self-peptides. Peptide-bound HLA-F-B2M acts as a ligand for LILRB1 inhibitory receptor, a major player in maternal-fetal tolerance. Peptide-free OC acts as a ligand for KIR3DS1 and KIR3DL2 receptors (PubMed:28636952). Upon interaction with activating KIR3DS1 receptor on NK cells, triggers NK cell degranulation and anti-viral cytokine production (PubMed:27455421). Through interaction with KIR3DL2 receptor, inhibits NK and T cell effector functions (PubMed:24018270). May interact with other MHC class I OCs to cross-present exogenous viral, tumor or minor histompatibility antigens to cytotoxic CD8+ T cells, triggering effector and memory responses (PubMed:23851683). May play a role in inflammatory responses in the peripheral nervous system. Through interaction with KIR3DL2, may protect motor neurons from astrocyte-induced toxicity (PubMed:26928464). N-glycosylated. Belongs to the MHC class I family. Endocytosis;Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Type I diabetes mellitus;HTLV-I infection;Herpes simplex infection;Autoimmune thyroid disease;Allograft rejection;Graft-versus-host disease;Viral myocarditis;ER-Phagosome pathway;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Endosomal/Vacuolar pathway;Interferon gamma signaling;Interferon alpha/beta signaling;Antigen Presentation: Folding, assembly and peptide loading of class I MHC PE1 6 +NX_P30518 Vasopressin V2 receptor 371 40279 9.49 7 Cell membrane Nephrogenic syndrome of inappropriate antidiuresis;Diabetes insipidus, nephrogenic, X-linked Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption. NA Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily. Neuroactive ligand-receptor interaction;Vasopressin-regulated water reabsorption;G alpha (s) signalling events;Vasopressin regulates renal water homeostasis via Aquaporins;Vasopressin-like receptors;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI) PE1 X +NX_P30519 Heme oxygenase 2 316 36033 5.31 0 Endoplasmic reticulum;Cytosol;Microsome;Cytoplasmic vesicle NA Heme oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase. Under physiological conditions, the activity of heme oxygenase is highest in the spleen, where senescent erythrocytes are sequestrated and destroyed. Heme oxygenase 2 could be implicated in the production of carbon monoxide in brain where it could act as a neurotransmitter. NA Belongs to the heme oxygenase family. Porphyrin and chlorophyll metabolism;Mineral absorption;Iron uptake and transport;Heme degradation;Neutrophil degranulation PE1 16 +NX_P30520 Adenylosuccinate synthetase isozyme 2 456 50097 6.13 0 Cytoplasm;Cytosol;Mitochondrion;Cell membrane NA Plays an important role in the de novo pathway and in the salvage pathway of purine nucleotide biosynthesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP. NA Belongs to the adenylosuccinate synthetase family. Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 1/2.;Purine metabolism;Alanine, aspartate and glutamate metabolism;Metabolic pathways;Purine ribonucleoside monophosphate biosynthesis PE1 1 +NX_P30530 Tyrosine-protein kinase receptor UFO 894 98337 5.23 1 Cytoplasmic vesicle;Cell membrane;Cytoskeleton NA (Microbial infection) Acts as a receptor for lassa virus and lymphocytic choriomeningitis virus, possibly through GAS6 binding to phosphatidyl-serine at the surface of virion envelope.;(Microbial infection) Acts as a receptor for Ebolavirus, possibly through GAS6 binding to phosphatidyl-serine at the surface of virion envelope.;Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding growth factor GAS6 and which is thus regulating many physiological processes including cell survival, cell proliferation, migration and differentiation. Ligand binding at the cell surface induces dimerization and autophosphorylation of AXL. Following activation by ligand, ALX binds and induces tyrosine phosphorylation of PI3-kinase subunits PIK3R1, PIK3R2 and PIK3R3; but also GRB2, PLCG1, LCK and PTPN11. Other downstream substrate candidates for AXL are CBL, NCK2, SOCS1 and TNS2. Recruitment of GRB2 and phosphatidylinositol 3 kinase regulatory subunits by AXL leads to the downstream activation of the AKT kinase. GAS6/AXL signaling plays a role in various processes such as endothelial cell survival during acidification by preventing apoptosis, optimal cytokine signaling during human natural killer cell development, hepatic regeneration, gonadotropin-releasing hormone neuron survival and migration, platelet activation, or regulation of thrombotic responses. Plays also an important role in inhibition of Toll-like receptors (TLRs)-mediated innate immune response. Monoubiquitinated upon GAS6-binding. A very small proportion of the receptor could be subjected to polyubiquitination in a very transient fashion.;Phosphorylated at tyrosine residues by autocatalysis, which activates kinase activity.;AXL is phosphorylated by TYRO3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. AXL/UFO subfamily. VEGFA-VEGFR2 Pathway PE1 19 +NX_P30531 Sodium- and chloride-dependent GABA transporter 1 599 67074 8.39 12 Membrane;Presynapse;Mitochondrion;Cell membrane Myoclonic-atonic epilepsy Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals. NA Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A1 subfamily. GABAergic synapse;Na+/Cl- dependent neurotransmitter transporters;Reuptake of GABA PE1 3 +NX_P30532 Neuronal acetylcholine receptor subunit alpha-5 468 53054 6.52 4 Postsynaptic cell membrane;Focal adhesion;Cell membrane NA After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-5/CHRNA5 sub-subfamily. Neuroactive ligand-receptor interaction;Highly calcium permeable postsynaptic nicotinic acetylcholine receptors;Highly calcium permeable nicotinic acetylcholine receptors PE1 15 +NX_P30533 Alpha-2-macroglobulin receptor-associated protein 357 41466 8.73 0 Golgi apparatus lumen;Cell surface;Endoplasmic reticulum;Endoplasmic reticulum-Golgi intermediate compartment lumen;Rough endoplasmic reticulum lumen;cis-Golgi network;Endosome lumen Myopia 23, autosomal recessive Molecular chaperone for LDL receptor-related proteins that may regulate their ligand binding activity along the secretory pathway. N-glycosylated. Belongs to the alpha-2-MRAP family. NA PE1 4 +NX_P30536 Translocator protein 169 18828 9.43 5 Mitochondrion membrane;Cytoplasmic vesicle;Cytosol;Mitochondrion NA Can bind protoporphyrin IX and may play a role in the transport of porphyrins and heme (By similarity). Promotes the transport of cholesterol across mitochondrial membranes and may play a role in lipid metabolism (PubMed:24814875), but its precise physiological role is controversial. It is apparently not required for steroid hormone biosynthesis. Was initially identified as peripheral-type benzodiazepine receptor; can also bind isoquinoline carboxamides (PubMed:1847678). NA Belongs to the TspO/BZRP family. Neuroactive ligand-receptor interaction;HTLV-I infection;Pregnenolone biosynthesis PE1 22 +NX_P30542 Adenosine receptor A1 326 36512 8.9 7 Cell membrane NA Receptor for adenosine. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Adenosine P1 receptors PE1 1 +NX_P30550 Gastrin-releasing peptide receptor 384 43199 8.78 7 Cell membrane NA Receptor for gastrin-releasing peptide (GRP) (PubMed:1655761). Signals via association with G proteins that activate a phosphatidylinositol-calcium second messenger system, resulting in Akt phosphorylation. Contributes to the regulation of food intake. Contributes to the perception of prurient stimuli and transmission of itch signals in the spinal cord that promote scratching behavior, but does not play a role in the perception of pain. Contributes primarily to nonhistaminergic itch sensation. Contributes to long-term fear memory, but not normal spatial memory (By similarity). NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 X +NX_P30556 Type-1 angiotensin II receptor 359 41061 9.44 7 Cytoplasmic vesicle;Cell membrane Renal tubular dysgenesis Receptor for angiotensin II. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. C-terminal Ser or Thr residues may be phosphorylated.;AGTR1 is phosphorylated by GRK5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Vascular smooth muscle contraction;Renin-angiotensin system;Peptide ligand-binding receptors;G alpha (q) signalling events;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 3 +NX_P30559 Oxytocin receptor 389 42772 9.63 7 Cell membrane NA Receptor for oxytocin. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. NA Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;G alpha (q) signalling events;Vasopressin-like receptors PE1 3 +NX_P30566 Adenylosuccinate lyase 484 54889 6.68 0 Cytosol Adenylosuccinase deficiency Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate. NA Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily. Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate: step 2/2.;Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 2/2.;Purine metabolism;Alanine, aspartate and glutamate metabolism;Metabolic pathways;Purine ribonucleoside monophosphate biosynthesis PE1 22 +NX_P30613 Pyruvate kinase PKLR 574 61830 7.65 0 Golgi apparatus;Cytosol Pyruvate kinase hyperactivity;Pyruvate kinase deficiency of red cells Plays a key role in glycolysis. NA Belongs to the pyruvate kinase family. Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 5/5.;Glycolysis / Gluconeogenesis;Purine metabolism;Pyruvate metabolism;Metabolic pathways;Insulin signaling pathway;Type II diabetes mellitus;Maturity onset diabetes of the young;Glycolysis;Regulation of gene expression in beta cells;ChREBP activates metabolic gene expression PE1 1 +NX_P30622 CAP-Gly domain-containing linker protein 1 1438 162246 5.29 0 Cytoplasm;Cytoplasmic vesicle membrane;Ruffle;Cytosol;Cytoskeleton NA Binds to the plus end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth and microtubule bundling. Links cytoplasmic vesicles to microtubules and thereby plays an important role in intracellular vesicle trafficking. Plays a role macropinocytosis and endosome trafficking. Phosphorylated. Phosphorylation induces conformational changes by increasing the affinity of the N-terminus for C-terminus, resulting in inhibition of its function thus decreasing its binding to microtubules and DCTN1. Exhibits a folded, autoinhibited conformation when phosphorylated and an open conformation when dephosphorylated with increased binding affinity to microtubules and DCTN1. Phosphorylation regulates its recruitment to tyrosinated microtubules and the recruitment of vesicular cargo to microtubules in neurons (By similarity). Phosphorylation by MTOR may positively regulate CLIP1 association with microtubules (PubMed:12231510).;CLIP1 is phosphorylated by MAPK3 NA Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;RHO GTPases activate IQGAPs;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 12 +NX_P30626 Sorcin 198 21676 5.32 0 Cytoplasm;Nucleoplasm;Cytosol;Sarcoplasmic reticulum membrane NA Calcium-binding protein that modulates excitation-contraction coupling in the heart. Contributes to calcium homeostasis in the heart sarcoplasmic reticulum. Modulates the activity of RYR2 calcium channels. NA NA Ion transport by P-type ATPases;Stimuli-sensing channels;Reduction of cytosolic Ca++ levels;Sodium/Calcium exchangers;Ion homeostasis PE1 7 +NX_P30679 Guanine nucleotide-binding protein subunit alpha-15 374 43568 8.74 0 NA NA Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. NA Belongs to the G-alpha family. G(q) subfamily. Calcium signaling pathway;Chagas disease (American trypanosomiasis);Amoebiasis;G alpha (q) signalling events;ADP signalling through P2Y purinoceptor 1;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion;Acetylcholine regulates insulin secretion PE1 19 +NX_P30711 Glutathione S-transferase theta-1 240 27335 7.01 0 Cytoplasm NA Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Acts on 1,2-epoxy-3-(4-nitrophenoxy)propane, phenethylisothiocyanate 4-nitrobenzyl chloride and 4-nitrophenethyl bromide. Displays glutathione peroxidase activity with cumene hydroperoxide. NA Belongs to the GST superfamily. Theta family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Glutathione conjugation PE1 22 +NX_P30740 Leukocyte elastase inhibitor 379 42742 5.9 0 Cytoplasm;Cytosol;Cytoplasmic granule;Secreted NA Neutrophil serine protease inhibitor that plays an essential role in the regulation of the innate immune response, inflammation and cellular homeostasis (PubMed:30692621). Acts primarily to protect the cell from proteases released in the cytoplasm during stress or infection. These proteases are important in killing microbes but when released from granules, these potent enzymes also destroy host proteins and contribute to mortality. Regulates the activity of the neutrophil proteases elastase, cathepsin G, proteinase-3, chymase, chymotrypsin, and kallikrein-3 (PubMed:11747453, PubMed:30692621). Acts also as a potent intracellular inhibitor of GZMH by directly blocking its proteolytic activity (PubMed:23269243). During inflammation, limits the activity of inflammatory caspases CASP1, CASP4 and CASP5 by suppressing their caspase-recruitment domain (CARD) oligomerization and enzymatic activation (PubMed:30692621). When secreted, promotes the proliferation of beta-cells via its protease inhibitory function (PubMed:26701651). NA Belongs to the serpin family. Ov-serpin subfamily. Amoebiasis;Neutrophil degranulation PE1 6 +NX_P30793 GTP cyclohydrolase 1 250 27903 8.73 0 Cytoplasm;Nucleus membrane;Nucleoplasm;Cytosol;Nucleus Dystonia, dopa-responsive;Hyperphenylalaninemia, BH4-deficient, B Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence.;Is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown. Phosphorylated by casein kinase II at Ser-81 in HAECs during oscillatory shear stress; phosphorylation at Ser-81 results in increased enzyme activity. Belongs to the GTP cyclohydrolase I family. Cofactor biosynthesis; 7,8-dihydroneopterin triphosphate biosynthesis; 7,8-dihydroneopterin triphosphate from GTP: step 1/1.;Folate biosynthesis;Metabolic pathways;Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation PE1 14 +NX_P30825 High affinity cationic amino acid transporter 1 629 67638 5.29 14 Cell membrane NA High-affinity, low capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) in non-hepatic tissues. NA Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family. Amino acid transport across the plasma membrane PE1 13 +NX_P30837 Aldehyde dehydrogenase X, mitochondrial 517 57206 6.36 0 Mitochondrion matrix;Cytoplasmic vesicle;Nucleoplasm;Mitochondrion NA ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. NA Belongs to the aldehyde dehydrogenase family. Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.;Glycolysis / Gluconeogenesis;Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Fatty acid metabolism;Valine, leucine and isoleucine degradation;Lysine degradation;Arginine and proline metabolism;Histidine metabolism;Tryptophan metabolism;beta-Alanine metabolism;Glycerolipid metabolism;Pyruvate metabolism;Propanoate metabolism;Metabolic pathways;Ethanol oxidation PE1 9 +NX_P30838 Aldehyde dehydrogenase, dimeric NADP-preferring 453 50395 6.11 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde (Probable). They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation (Probable). Oxidizes medium and long chain aldehydes into non-toxic fatty acids (PubMed:1737758). Preferentially oxidizes aromatic aldehyde substrates (PubMed:1737758). Comprises about 50 percent of corneal epithelial soluble proteins (By similarity). May play a role in preventing corneal damage caused by ultraviolet light (By similarity). NA Belongs to the aldehyde dehydrogenase family. Glycolysis / Gluconeogenesis;Histidine metabolism;Tyrosine metabolism;Phenylalanine metabolism;beta-Alanine metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;Phase I - Functionalization of compounds PE1 17 +NX_P30872 Somatostatin receptor type 1 391 42686 8.68 7 Cell membrane NA Receptor for somatostatin with higher affinity for somatostatin-14 than -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase. In addition it stimulates phosphotyrosine phosphatase and Na(+)/H(+) exchanger via pertussis toxin insensitive G proteins. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors PE1 14 +NX_P30874 Somatostatin receptor type 2 369 41333 9.15 7 Cytoplasm;Cytosol;Cell membrane NA Receptor for somatostatin-14 and -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase. In addition it stimulates phosphotyrosine phosphatase and PLC via pertussis toxin insensitive as well as sensitive G proteins. Inhibits calcium entry by suppressing voltage-dependent calcium channels. Acts as the functionally dominant somatostatin receptor in pancreatic alpha- and beta-cells where it mediates the inhibitory effect of somatostatin-14 on hormone secretion. Inhibits cell growth through enhancement of MAPK1 and MAPK2 phosphorylation and subsequent up-regulation of CDKN1B. Stimulates neuronal migration and axon outgrowth and may participate in neuron development and maturation during brain development. Mediates negative regulation of insulin receptor signaling through PTPN6. Inactivates SSTR3 receptor function following heterodimerization. Phosphorylated on serine and threonine residues in response to agonist stimulation, leading to receptor desensitization and rapid internalization. Phosphorylated to a greater extent on serine than threonine residues. Threonine phosphorylation is required for arrestin binding and receptor endocytosis but is not necessary for desensitization (By similarity). Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Gastric acid secretion;G alpha (i) signalling events;Peptide ligand-binding receptors PE1 17 +NX_P30876 DNA-directed RNA polymerase II subunit RPB2 1174 133897 6.44 0 Nucleoplasm;Nucleus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB2 is part of the core element with the central large cleft, the clamp element that moves to open and close the cleft and the jaws that are thought to grab the incoming DNA template (By similarity). NA Belongs to the RNA polymerase beta chain family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Huntington's disease;Viral Messenger RNA Synthesis;Transcriptional regulation by small RNAs;PIWI-interacting RNA (piRNA) biogenesis;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;Processing of Capped Intron-Containing Pre-mRNA;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;MicroRNA (miRNA) biogenesis;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Activation of anterior HOX genes in hindbrain development during early embryogenesis;FGFR2 alternative splicing;RNA polymerase II transcribes snRNA genes;Signaling by FGFR2 IIIa TM;TP53 Regulates Transcription of DNA Repair Genes;Estrogen-dependent gene expression PE1 4 +NX_P30926 Neuronal acetylcholine receptor subunit beta-4 498 56380 8.64 4 Postsynaptic cell membrane;Endoplasmic reticulum;Cell junction;Cell membrane NA After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-4/CHRNB4 sub-subfamily. Neuroactive ligand-receptor interaction;Cholinergic synapse;Highly calcium permeable postsynaptic nicotinic acetylcholine receptors;Highly sodium permeable acetylcholine nicotinic receptors;Highly calcium permeable nicotinic acetylcholine receptors;Neutrophil degranulation PE1 15 +NX_P30939 5-hydroxytryptamine receptor 1F 366 41709 9.09 7 Cell membrane NA G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various alkaloids and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Serotonin receptors PE1 3 +NX_P30953 Olfactory receptor 1E1 314 35264 7.98 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 17 +NX_P30954 Olfactory receptor 10J1 320 35925 9.29 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_P30968 Gonadotropin-releasing hormone receptor 328 37731 9.56 7 Cell membrane Hypogonadotropic hypogonadism 7 with or without anosmia Receptor for gonadotropin releasing hormone (GnRH) that mediates the action of GnRH to stimulate the secretion of the gonadotropic hormones luteinizing hormone (LH) and follicle-stimulating hormone (FSH). This receptor mediates its action by association with G-proteins that activate a phosphatidylinositol-calcium second messenger system.;May act as an inhibitor of GnRH-R signaling. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;GnRH signaling pathway;G alpha (q) signalling events;Hormone ligand-binding receptors PE1 4 +NX_P30988 Calcitonin receptor 474 55329 8.6 7 Cell membrane NA Receptor for calcitonin but is unable to couple to G proteins and activate adenylyl cyclase (PubMed:7476993). Does not undergo receptor internalization following ligand binding (PubMed:7476993).;This is a receptor for calcitonin. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. The calcitonin receptor is thought to couple to the heterotrimeric guanosine triphosphate-binding protein that is sensitive to cholera toxin. NA Belongs to the G-protein coupled receptor 2 family. Neuroactive ligand-receptor interaction;Osteoclast differentiation;G alpha (s) signalling events;Calcitonin-like ligand receptors PE1 7 +NX_P30989 Neurotensin receptor type 1 418 46259 9.46 7 Membrane raft;Cell membrane NA G-protein coupled receptor for the tridecapeptide neurotensin (NTS) (PubMed:8381365, PubMed:21725197, PubMed:23140271). Signaling is effected via G proteins that activate a phosphatidylinositol-calcium second messenger system. Signaling leads to the activation of downstream MAP kinases and protects cells against apoptosis (PubMed:21725197). N-glycosylated.;Palmitoylated; this is required for normal localization at membrane rafts and normal GNA11-mediated activation of down-stream signaling cascades. The palmitoylation level increases in response to neurotensin treatment. Belongs to the G-protein coupled receptor 1 family. Neurotensin receptor subfamily. NTSR1 sub-subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 20 +NX_P30990 Neurotensin/neuromedin N 170 19795 6.59 0 Secreted;Secretory vesicle NA Neurotensin may play an endocrine or paracrine role in the regulation of fat metabolism. It causes contraction of smooth muscle. NA Belongs to the neurotensin family. Peptide ligand-binding receptors;G alpha (q) signalling events PE1 12 +NX_P31025 Lipocalin-1 176 19250 5.39 0 Secreted NA Could play a role in taste reception. Could be necessary for the concentration and delivery of sapid molecules in the gustatory system. Can bind various ligands, with chemical structures ranging from lipids and retinoids to the macrocyclic antibiotic rifampicin and even to microbial siderophores. Exhibits an extremely wide ligand pocket. NA Belongs to the calycin superfamily. Lipocalin family. Transport of fatty acids PE1 9 +NX_P31040 Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial 664 72692 7.06 0 Mitochondrion inner membrane;Mitochondrion;Nucleolus Leigh syndrome;Paragangliomas 5;Mitochondrial complex II deficiency;Cardiomyopathy, dilated 1GG Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:24781757). Can act as a tumor suppressor (PubMed:20484225). Acetylated. Deacetylated by SIRT3.;Phosphorylation at Tyr-215 is important for efficient electron transfer in complex II and the prevention of ROS generation. Belongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily. Carbohydrate metabolism; tricarboxylic acid cycle; fumarate from succinate (eukaryal route): step 1/1.;Citrate cycle (TCA cycle);Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Citric acid cycle (TCA cycle) PE1 5 +NX_P31146 Coronin-1A 461 51026 6.25 0 Phagosome membrane;Cytosol;Cell cortex;Cytoskeleton Immunodeficiency 8 May be a crucial component of the cytoskeleton of highly motile cells, functioning both in the invagination of large pieces of plasma membrane, as well as in forming protrusions of the plasma membrane involved in cell locomotion. In mycobacteria-infected cells, its retention on the phagosomal membrane prevents fusion between phagosomes and lysosomes. Polyubiquitinated by RNF128 with 'Lys-48'-linked chains, leading to proteasomal degradation.;Phosphorylation at Thr-412 by PKC strongly down-regulates the association with actin.;CORO1A is phosphorylated by CDK5 Belongs to the WD repeat coronin family. Phagosome;Tuberculosis PE1 16 +NX_P31150 Rab GDP dissociation inhibitor alpha 447 50583 5 0 trans-Golgi network;Cytoplasm;Cytoplasmic vesicle Mental retardation, X-linked 41 Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Promotes the dissociation of GDP-bound Rab proteins from the membrane and inhibits their activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes. NA Belongs to the Rab GDI family. Rho GTPase cycle;RAB GEFs exchange GTP for GDP on RABs PE1 X +NX_P31151 Protein S100-A7 101 11471 6.27 0 Cytoplasm;Secreted NA NA NA Belongs to the S-100 family. Neutrophil degranulation;Metal sequestration by antimicrobial proteins PE1 1 +NX_P31152 Mitogen-activated protein kinase 4 587 65922 5.25 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Midbody;Nucleus NA Atypical MAPK protein. Phosphorylates microtubule-associated protein 2 (MAP2) and MAPKAPK5. The precise role of the complex formed with MAPKAPK5 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPKAPK5, ERK4/MAPK4 is phosphorylated at Ser-186 and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK4/MAPK4. May promote entry in the cell cycle (By similarity). Phosphorylated at Ser-186 by PAK1, PAK2 and PAK3 resulting in catalytic activation. Phosphorylated by MAPKAPK5 at other sites. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. MAPK6/MAPK4 signaling PE1 18 +NX_P31153 S-adenosylmethionine synthase isoform type-2 395 43661 6.02 0 Nucleoplasm;Cytosol NA Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the triphosphate. NA Belongs to the AdoMet synthase family. Amino-acid biosynthesis; S-adenosyl-L-methionine biosynthesis; S-adenosyl-L-methionine from L-methionine: step 1/1.;Cysteine and methionine metabolism;Metabolic pathways;Methylation PE1 2 +NX_P31213 3-oxo-5-alpha-steroid 4-dehydrogenase 2 254 28393 9.47 4 Microsome membrane;Endoplasmic reticulum membrane Pseudovaginal perineoscrotal hypospadias Converts testosterone (T) into 5-alpha-dihydrotestosterone (DHT) and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology. NA Belongs to the steroid 5-alpha reductase family. Steroid hormone biosynthesis;Prostate cancer;Androgen biosynthesis PE1 2 +NX_P31249 Homeobox protein Hox-D3 432 45730 8.98 0 Nucleoplasm;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 2 +NX_P31260 Homeobox protein Hox-A10 410 42414 8.63 0 Nucleoplasm;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to the DNA sequence 5'-AA[AT]TTTTATTAC-3'. NA Belongs to the Abd-B homeobox family. NA PE1 7 +NX_P31267 Homeobox protein Hox-A6 233 26339 9.18 0 Nucleoplasm;Nucleus speckle;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. NA PE1 7 +NX_P31268 Homeobox protein Hox-A7 230 25355 5.26 0 Nucleoplasm;Nucleus membrane;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. NA PE1 7 +NX_P31269 Homeobox protein Hox-A9 272 30172 8.8 0 Nucleoplasm;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Required for induction of E-selectin and VCAM-1, on the endothelial cells surface at sites of inflammation. Methylated on Arg-140 by PRMT5; methylation is critical for E-selectin induction. Belongs to the Abd-B homeobox family. NA PE1 7 +NX_P31270 Homeobox protein Hox-A11 313 34486 8.91 0 Nucleoplasm;Nucleus Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Abd-B homeobox family. NA PE1 7 +NX_P31271 Homeobox protein Hox-A13 388 39727 9.24 0 Nucleoplasm;Nucleus;Cytoskeleton Guttmacher syndrome;Hand-foot-genital syndrome Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.;Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Abd-B homeobox family. NA PE1 7 +NX_P31273 Homeobox protein Hox-C8 242 27755 6.56 0 Nucleoplasm;Nucleus;Cytoskeleton NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. NA PE1 12 +NX_P31274 Homeobox protein Hox-C9 260 29248 9.14 0 Nucleoplasm;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Abd-B homeobox family. NA PE1 12 +NX_P31275 Homeobox protein Hox-C12 282 30171 8.93 0 Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Abd-B homeobox family. NA PE1 12 +NX_P31276 Homeobox protein Hox-C13 330 35379 9.11 0 Nucleus Ectodermal dysplasia 9, hair/nail type Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity). NA Belongs to the Abd-B homeobox family. NA PE1 12 +NX_P31277 Homeobox protein Hox-D11 338 35197 9.02 0 Nucleoplasm;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Abd-B homeobox family. NA PE1 2 +NX_P31314 T-cell leukemia homeobox protein 1 330 34365 9.53 0 Nucleoplasm;Nucleus NA Controls the genesis of the spleen. Binds to the DNA sequence 5'-GGCGGTAAGTGG-3'. NA NA NA PE1 10 +NX_P31321 cAMP-dependent protein kinase type I-beta regulatory subunit 381 43073 5.53 0 Cell membrane NA Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. The pseudophosphorylation site binds to the substrate-binding region of the catalytic chain, resulting in the inhibition of its activity. Belongs to the cAMP-dependent kinase regulatory chain family. Apoptosis;Insulin signaling pathway;Factors involved in megakaryocyte development and platelet production;Hedgehog 'off' state;PKA activation;PKA activation in glucagon signalling;DARPP-32 events;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;CREB1 phosphorylation through the activation of Adenylate Cyclase PE1 7 +NX_P31323 cAMP-dependent protein kinase type II-beta regulatory subunit 418 46302 4.82 0 Cytoplasm;Mitochondrion;Cell membrane NA Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. Type II regulatory chains mediate membrane association by binding to anchoring proteins, including the MAP2 kinase. Phosphorylated by the activated catalytic chain. Belongs to the cAMP-dependent kinase regulatory chain family. Apoptosis;Insulin signaling pathway;Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Factors involved in megakaryocyte development and platelet production;Hedgehog 'off' state;PKA activation;PKA activation in glucagon signalling;DARPP-32 events;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Recruitment of NuMA to mitotic centrosomes;CREB1 phosphorylation through the activation of Adenylate Cyclase;AURKA Activation by TPX2 PE1 7 +NX_P31327 Carbamoyl-phosphate synthase [ammonia], mitochondrial 1500 164939 6.3 0 Mitochondrion;Nucleolus Carbamoyl phosphate synthetase 1 deficiency;Pulmonary hypertension, neonatal Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell. Undergoes proteolytic cleavage in the C-terminal region corresponding to the loss of approximately 12 AA residues from the C-terminus.;Glutarylated. Glutarylation levels increase during fasting. Deglutarylated by SIRT5 at Lys-55, Lys-219, Lys-412, Lys-889, Lys-892, Lys-915, Lys-1360 and Lys-1486, leading to activation.;Succinylated at Lys-287 and Lys-1291. Desuccinylated at Lys-1291 by SIRT5, leading to activation (By similarity). NA Alanine, aspartate and glutamate metabolism;Arginine and proline metabolism;Nitrogen metabolism;Metabolic pathways;Urea cycle PE1 2 +NX_P31350 Ribonucleoside-diphosphate reductase subunit M2 389 44878 5.28 0 Cytoplasm;Cytosol NA Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides. Inhibits Wnt signaling. Phosphorylation on Ser-20 relieves the inhibitory effect on Wnt signaling. Belongs to the ribonucleoside diphosphate reductase small chain family. Genetic information processing; DNA replication.;Purine metabolism;Pyrimidine metabolism;Glutathione metabolism;Metabolic pathways;p53 signaling pathway;G1/S-Specific Transcription;Interconversion of nucleotide di- and triphosphates;Transcriptional Regulation by E2F6 PE1 2 +NX_P31358 CAMPATH-1 antigen 61 6614 8 0 Cell membrane NA May play a role in carrying and orienting carbohydrate, as well as having a more specific role. NA NA Post-translational modification: synthesis of GPI-anchored proteins PE1 1 +NX_P31371 Fibroblast growth factor 9 208 23441 7.06 0 Secreted Multiple synostoses syndrome 3 Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumors. N-glycosylated.;Three molecular species were found (30 kDa, 29 kDa and 25 kDa), cleaved at Leu-4, Val-13 and Ser-34 respectively. The smaller ones might be products of proteolytic digestion. Furthermore, there may be a functional signal sequence in the 30 kDa species which is uncleavable in the secretion step. Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;Signaling by activated point mutants of FGFR1;Signaling by activated point mutants of FGFR3;FGFR4 ligand binding and activation;FGFR3c ligand binding and activation;FGFR1c ligand binding and activation;FGFR2c ligand binding and activation;FGFR3 mutant receptor activation;Activated point mutants of FGFR2;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade: FGFR1;Phospholipase C-mediated cascade, FGFR2;Phospholipase C-mediated cascade, FGFR3;Phospholipase C-mediated cascade, FGFR4;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;SHC-mediated cascade:FGFR3;FRS-mediated FGFR3 signaling;PI-3K cascade:FGFR3;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;PI-3K cascade:FGFR4;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;FGFR3b ligand binding and activation;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Downstream signaling of activated FGFR1;Signaling by FGFR3 point mutants in cancer PE1 13 +NX_P31391 Somatostatin receptor type 4 388 42003 9.09 7 Cell membrane NA Receptor for somatostatin-14. The activity of this receptor is mediated by G proteins which inhibits adenylyl cyclase. It is functionally coupled not only to inhibition of adenylate cyclase, but also to activation of both arachidonate release and mitogen-activated protein (MAP) kinase cascade. Mediates antiproliferative action of somatostatin in tumor cells. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors PE2 20 +NX_P31415 Calsequestrin-1 396 45160 4.03 0 Mitochondrion;Mitochondrion matrix;Sarcoplasmic reticulum;Endoplasmic reticulum;Nucleoplasm;Sarcoplasmic reticulum lumen;Sarcoplasmic reticulum membrane Myopathy, vacuolar, with CASQ1 aggregates;Myopathy, tubular aggregate, 1 Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle (PubMed:28895244). Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca(2+) ions (PubMed:28895244). Regulates the release of lumenal Ca(2+) via the calcium release channel RYR1; this plays an important role in triggering muscle contraction. Negatively regulates store-operated Ca(2+) entry (SOCE) activity (PubMed:27185316). N-glycosylated. Belongs to the calsequestrin family. Stimuli-sensing channels;Ion homeostasis PE1 1 +NX_P31431 Syndecan-4 198 21642 4.39 1 Membrane;Golgi apparatus;Secreted;Cell membrane NA Cell surface proteoglycan that bears heparan sulfate. Regulates exosome biogenesis in concert with SDCBP and PDCD6IP (PubMed:22660413). Shedding is enhanced by a number of factors such as heparanase, thrombin or EGF. Also by stress and wound healing. PMA-mediated shedding is inhibited by TIMP3. Belongs to the syndecan proteoglycan family. ECM-receptor interaction;Cell adhesion molecules (CAMs);Malaria;Retinoid metabolism and transport;HS-GAG biosynthesis;A tetrasaccharide linker sequence is required for GAG synthesis;HS-GAG degradation;Syndecan interactions;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;Defective EXT2 causes exostoses 2;Defective EXT1 causes exostoses 1, TRPS2 and CHDS;Cell surface interactions at the vascular wall;Defective B3GALT6 causes EDSP2 and SEMDJL1 PE1 20 +NX_P31483 Nucleolysin TIA-1 isoform p40 386 42963 7.62 0 Nucleoplasm;Cytosol;Stress granule;Nucleus Welander distal myopathy Involved in alternative pre-RNA splicing and regulation of mRNA translation by binding to AU-rich elements (AREs) located in mRNA 3' untranslated regions (3' UTRs). Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis. TIA1 is phosphorylated by FASTK (Phosphoserine:PTM-0253) NA FGFR2 alternative splicing PE1 2 +NX_P31512 Dimethylaniline monooxygenase [N-oxide-forming] 4 558 63343 8.74 1 Microsome membrane;Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum membrane NA This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides. NA Belongs to the FMO family. Drug metabolism - cytochrome P450 PE1 1 +NX_P31513 Dimethylaniline monooxygenase [N-oxide-forming] 3 532 60033 7.9 1 Microsome membrane;Endoplasmic reticulum membrane Trimethylaminuria Essential hepatic enzyme that catalyzes the oxygenation of a wide variety of nitrogen- and sulfur-containing compounds including drugs as well as dietary compounds (PubMed:10759686, PubMed:30381441). Plays an important role in the metabolism of trimethylamine (TMA), via the production of trimethylamine N-oxide (TMAO) metabolite (PubMed:9776311). TMA is generated by the action of gut microbiota using dietary precursors such as choline, choline containing compounds, betaine or L-carnitine. By regulating TMAO concentration, FMO3 directly impacts both platelet responsiveness and rate of thrombus formation (PubMed:29981269). NA Belongs to the FMO family. Drug metabolism - cytochrome P450;FMO oxidises nucleophiles;Defective FMO3 causes Trimethylaminuria (TMAU) PE1 1 +NX_P31629 Transcription factor HIVEP2 2446 269053 6.5 0 Nucleoplasm;Nucleus Mental retardation, autosomal dominant 43 This protein specifically binds to the DNA sequence 5'-GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, somatostatin receptor II, and interferon-beta genes. It may act in T-cell activation. NA NA NA PE1 6 +NX_P31639 Sodium/glucose cotransporter 2 672 72897 7.45 11 Membrane Renal glucosuria Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules.;Sodium-dependent glucose transporter. Has a Na(+) to glucose coupling ratio of 1:1. NA Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. Cellular hexose transport;Defective SLC5A2 causes renal glucosuria (GLYS1) PE1 16 +NX_P31641 Sodium- and chloride-dependent taurine transporter 620 69830 7.37 12 Cytosol;Cell junction;Cell membrane NA Sodium-dependent taurine and beta-alanine transporter. Chloride ions are necessary for optimal uptake. Down-regulated upon Ser-322 phosphorylation. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A6 subfamily. Amino acid transport across the plasma membrane;Na+/Cl- dependent neurotransmitter transporters PE1 3 +NX_P31644 Gamma-aminobutyric acid receptor subunit alpha-5 462 52146 9.22 4 Postsynaptic cell membrane;Cell membrane NA GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA5 sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse;GABA receptor activation PE1 15 +NX_P31645 Sodium-dependent serotonin transporter 630 70325 5.89 12 Golgi apparatus;Cell membrane;Endosome membrane;Endomembrane system;Focal adhesion;Synapse;Cytoplasmic vesicle NA Serotonin transporter whose primary function in the central nervous system involves the regulation of serotonergic signaling via transport of serotonin molecules from the synaptic cleft back into the pre-synaptic terminal for re-utilization. Plays a key role in mediating regulation of the availability of serotonin to other receptors of serotonergic systems. Terminates the action of serotonin and recycles it in a sodium-dependent manner. Phosphorylation at Thr-276 increases 5-HT uptake and is required for cGMP-mediated SERT regulation. Phosphorylation upon PKC stimulation modifies the SERT distribution and density in the membrane, and diminishes the uptake capacity.;Glycosylated; modification with sialylated N-glycans is a requirement for transporters to associate with each other and to function as homooligomeric forms. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A4 subfamily. Serotonin clearance from the synaptic cleft PE1 17 +NX_P31689 DnaJ homolog subfamily A member 1 397 44868 6.65 0 Cytoplasm;Mitochondrion;Microsome;Cell membrane;Membrane;Cytosol;Perinuclear region;Nucleus;Cytoskeleton NA Co-chaperone for HSPA8/Hsc70 (PubMed:10816573). Stimulates ATP hydrolysis, but not the folding of unfolded proteins mediated by HSPA1A (in vitro) (PubMed:24318877). Plays a role in protein transport into mitochondria via its role as co-chaperone. Functions as co-chaperone for HSPA1B and negatively regulates the translocation of BAX from the cytosol to mitochondria in response to cellular stress, thereby protecting cells against apoptosis (PubMed:14752510). Promotes apoptosis in response to cellular stress mediated by exposure to anisomycin or UV (PubMed:24512202). NA NA Protein processing in endoplasmic reticulum;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 9 +NX_P31749 RAC-alpha serine/threonine-protein kinase 480 55686 5.75 0 Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Cytoskeleton Breast cancer;Proteus syndrome;Colorectal cancer;Cowden syndrome 6 AKT1 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT is responsible of the regulation of glucose uptake by mediating insulin-induced translocation of the SLC2A4/GLUT4 glucose transporter to the cell surface. Phosphorylation of PTPN1 at 'Ser-50' negatively modulates its phosphatase activity preventing dephosphorylation of the insulin receptor and the attenuation of insulin signaling. Phosphorylation of TBC1D4 triggers the binding of this effector to inhibitory 14-3-3 proteins, which is required for insulin-stimulated glucose transport. AKT regulates also the storage of glucose in the form of glycogen by phosphorylating GSK3A at 'Ser-21' and GSK3B at 'Ser-9', resulting in inhibition of its kinase activity. Phosphorylation of GSK3 isoforms by AKT is also thought to be one mechanism by which cell proliferation is driven. AKT regulates also cell survival via the phosphorylation of MAP3K5 (apoptosis signal-related kinase). Phosphorylation of 'Ser-83' decreases MAP3K5 kinase activity stimulated by oxidative stress and thereby prevents apoptosis. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2 at 'Ser-939' and 'Thr-1462', thereby activating mTORC1 signaling and leading to both phosphorylation of 4E-BP1 and in activation of RPS6KB1. AKT is involved in the phosphorylation of members of the FOXO factors (Forkhead family of transcription factors), leading to binding of 14-3-3 proteins and cytoplasmic localization. In particular, FOXO1 is phosphorylated at 'Thr-24', 'Ser-256' and 'Ser-319'. FOXO3 and FOXO4 are phosphorylated on equivalent sites. AKT has an important role in the regulation of NF-kappa-B-dependent gene transcription and positively regulates the activity of CREB1 (cyclic AMP (cAMP)-response element binding protein). The phosphorylation of CREB1 induces the binding of accessory proteins that are necessary for the transcription of pro-survival genes such as BCL2 and MCL1. AKT phosphorylates 'Ser-454' on ATP citrate lyase (ACLY), thereby potentially regulating ACLY activity and fatty acid synthesis. Activates the 3B isoform of cyclic nucleotide phosphodiesterase (PDE3B) via phosphorylation of 'Ser-273', resulting in reduced cyclic AMP levels and inhibition of lipolysis. Phosphorylates PIKFYVE on 'Ser-318', which results in increased PI(3)P-5 activity. The Rho GTPase-activating protein DLC1 is another substrate and its phosphorylation is implicated in the regulation cell proliferation and cell growth. AKT plays a role as key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. Signals downstream of phosphatidylinositol 3-kinase (PI(3)K) to mediate the effects of various growth factors such as platelet-derived growth factor (PDGF), epidermal growth factor (EGF), insulin and insulin-like growth factor I (IGF-I). AKT mediates the antiapoptotic effects of IGF-I. Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly. May be involved in the regulation of the placental development. Phosphorylates STK4/MST1 at 'Thr-120' and 'Thr-387' leading to inhibition of its: kinase activity, nuclear translocation, autophosphorylation and ability to phosphorylate FOXO3. Phosphorylates STK3/MST2 at 'Thr-117' and 'Thr-384' leading to inhibition of its: cleavage, kinase activity, autophosphorylation at Thr-180, binding to RASSF1 and nuclear translocation. Phosphorylates SRPK2 and enhances its kinase activity towards SRSF2 and ACIN1 and promotes its nuclear translocation. Phosphorylates RAF1 at 'Ser-259' and negatively regulates its activity. Phosphorylation of BAD stimulates its pro-apoptotic activity. Phosphorylates KAT6A at 'Thr-369' and this phosphorylation inhibits the interaction of KAT6A with PML and negatively regulates its acetylation activity towards p53/TP53.;AKT1-specific substrates have been recently identified, including palladin (PALLD), which phosphorylation modulates cytoskeletal organization and cell motility; prohibitin (PHB), playing an important role in cell metabolism and proliferation; and CDKN1A, for which phosphorylation at 'Thr-145' induces its release from CDK2 and cytoplasmic relocalization. These recent findings indicate that the AKT1 isoform has a more specific role in cell motility and proliferation. Phosphorylates CLK2 thereby controlling cell survival to ionizing radiation. Phosphorylation on Thr-308, Ser-473 and Tyr-474 is required for full activity. Activated TNK2 phosphorylates it on Tyr-176 resulting in its binding to the anionic plasma membrane phospholipid PA. This phosphorylated form localizes to the cell membrane, where it is targeted by PDPK1 and PDPK2 for further phosphorylations on Thr-308 and Ser-473 leading to its activation. Ser-473 phosphorylation by mTORC2 favors Thr-308 phosphorylation by PDPK1. Phosphorylated at Thr-308 and Ser-473 by IKBKE and TBK1. Ser-473 phosphorylation is enhanced by interaction with AGAP2 isoform 2 (PIKE-A). Ser-473 phosphorylation is enhanced in focal cortical dysplasias with Taylor-type balloon cells. Ser-473 phosphorylation is enhanced by signaling through activated FLT3. Dephosphorylated at Thr-308 and Ser-473 by PP2A phosphatase. The phosphorylated form of PPP2R5B is required for bridging AKT1 with PP2A phosphatase. Ser-473 is dephosphorylated by CPPED1, leading to termination of signaling.;Acetylated on Lys-14 and Lys-20 by the histone acetyltransferases EP300 and KAT2B. Acetylation results in reduced phosphorylation and inhibition of activity. Deacetylated at Lys-14 and Lys-20 by SIRT1. SIRT1-mediated deacetylation relieves the inhibition.;O-GlcNAcylation at Thr-305 and Thr-312 inhibits activating phosphorylation at Thr-308 via disrupting the interaction between AKT1 and PDPK1. O-GlcNAcylation at Ser-473 also probably interferes with phosphorylation at this site.;Ubiquitinated via 'Lys-48'-linked polyubiquitination by ZNRF1, leading to its degradation by the proteasome (By similarity). Ubiquitinated; undergoes both 'Lys-48'- and 'Lys-63'-linked polyubiquitination. TRAF6-induced 'Lys-63'-linked AKT1 ubiquitination is critical for phosphorylation and activation. When ubiquitinated, it translocates to the plasma membrane, where it becomes phosphorylated. When fully phosphorylated and translocated into the nucleus, undergoes 'Lys-48'-polyubiquitination catalyzed by TTC3, leading to its degradation by the proteasome. Also ubiquitinated by TRIM13 leading to its proteasomal degradation. Phosphorylated, undergoes 'Lys-48'-linked polyubiquitination preferentially at Lys-284 catalyzed by MUL1, leading to its proteasomal degradation. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. RAC subfamily. MAPK signaling pathway;ErbB signaling pathway;Chemokine signaling pathway;mTOR signaling pathway;Apoptosis;VEGF signaling pathway;Osteoclast differentiation;Focal adhesion;Tight junction;Toll-like receptor signaling pathway;Jak-STAT signaling pathway;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Neurotrophin signaling pathway;Cholinergic synapse;Dopaminergic synapse;Insulin signaling pathway;Progesterone-mediated oocyte maturation;Adipocytokine signaling pathway;Carbohydrate digestion and absorption;Chagas disease (American trypanosomiasis);Toxoplasmosis;Tuberculosis;Hepatitis C;Measles;Influenza A;HTLV-I infection;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Melanoma;Chronic myeloid leukemia;Acute myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;Translocation of SLC2A4 (GLUT4) to the plasma membrane;PIP3 activates AKT signaling;G beta:gamma signalling through PI3Kgamma;VEGFR2 mediated vascular permeability;CD28 dependent PI3K/Akt signaling;Cyclin E associated events during G1/S transition;TP53 Regulates Metabolic Genes;Activation of BAD and translocation to mitochondria;Deactivation of the beta-catenin transactivating complex;Cyclin A:Cdk2-associated events at S phase entry;AKT phosphorylates targets in the nucleus;Constitutive Signaling by AKT1 E17K in Cancer;mTOR signalling;eNOS activation;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;KSRP (KHSRP) binds and destabilizes mRNA;CTLA4 inhibitory signaling;Integrin alphaIIb beta3 signaling;AKT phosphorylates targets in the cytosol;Downregulation of ERBB2:ERBB3 signaling;Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation;Negative regulation of the PI3K/AKT network;AKT-mediated inactivation of FOXO1A;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1;Regulation of TP53 Activity through Acetylation;Regulation of TP53 Degradation;Regulation of TP53 Activity through Association with Co-factors;RAB GEFs exchange GTP for GDP on RABs;Interleukin-4 and Interleukin-13 signaling;Regulation of PTEN stability and activity;RUNX2 regulates genes involved in cell migration;Negative regulation of NOTCH4 signaling;Extra-nuclear estrogen signaling;Estrogen-dependent nuclear events downstream of ESR-membrane signaling;Regulation of localization of FOXO transcription factors PE1 14 +NX_P31751 RAC-beta serine/threonine-protein kinase 481 55769 5.98 0 Cytoplasm;Cell membrane;Early endosome;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus Diabetes mellitus, non-insulin-dependent;Hypoinsulinemic hypoglycemia with hemihypertrophy AKT2 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT is responsible of the regulation of glucose uptake by mediating insulin-induced translocation of the SLC2A4/GLUT4 glucose transporter to the cell surface. Phosphorylation of PTPN1 at 'Ser-50' negatively modulates its phosphatase activity preventing dephosphorylation of the insulin receptor and the attenuation of insulin signaling. Phosphorylation of TBC1D4 triggers the binding of this effector to inhibitory 14-3-3 proteins, which is required for insulin-stimulated glucose transport. AKT regulates also the storage of glucose in the form of glycogen by phosphorylating GSK3A at 'Ser-21' and GSK3B at 'Ser-9', resulting in inhibition of its kinase activity. Phosphorylation of GSK3 isoforms by AKT is also thought to be one mechanism by which cell proliferation is driven. AKT regulates also cell survival via the phosphorylation of MAP3K5 (apoptosis signal-related kinase). Phosphorylation of 'Ser-83' decreases MAP3K5 kinase activity stimulated by oxidative stress and thereby prevents apoptosis. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2 at 'Ser-939' and 'Thr-1462', thereby activating mTORC1 signaling and leading to both phosphorylation of 4E-BP1 and in activation of RPS6KB1. AKT is involved in the phosphorylation of members of the FOXO factors (Forkhead family of transcription factors), leading to binding of 14-3-3 proteins and cytoplasmic localization. In particular, FOXO1 is phosphorylated at 'Thr-24', 'Ser-256' and 'Ser-319'. FOXO3 and FOXO4 are phosphorylated on equivalent sites. AKT has an important role in the regulation of NF-kappa-B-dependent gene transcription and positively regulates the activity of CREB1 (cyclic AMP (cAMP)-response element binding protein). The phosphorylation of CREB1 induces the binding of accessory proteins that are necessary for the transcription of pro-survival genes such as BCL2 and MCL1. AKT phosphorylates 'Ser-454' on ATP citrate lyase (ACLY), thereby potentially regulating ACLY activity and fatty acid synthesis. Activates the 3B isoform of cyclic nucleotide phosphodiesterase (PDE3B) via phosphorylation of 'Ser-273', resulting in reduced cyclic AMP levels and inhibition of lipolysis. Phosphorylates PIKFYVE on 'Ser-318', which results in increased PI(3)P-5 activity. The Rho GTPase-activating protein DLC1 is another substrate and its phosphorylation is implicated in the regulation cell proliferation and cell growth. AKT plays a role as key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. Signals downstream of phosphatidylinositol 3-kinase (PI(3)K) to mediate the effects of various growth factors such as platelet-derived growth factor (PDGF), epidermal growth factor (EGF), insulin and insulin-like growth factor I (IGF-I). AKT mediates the antiapoptotic effects of IGF-I. Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly. May be involved in the regulation of the placental development.;One of the few specific substrates of AKT2 identified recently is PITX2. Phosphorylation of PITX2 impairs its association with the CCND1 mRNA-stabilizing complex thus shortening the half-life of CCND1. AKT2 seems also to be the principal isoform responsible of the regulation of glucose uptake. Phosphorylates C2CD5 on 'Ser-197' during insulin-stimulated adipocytes. AKT2 is also specifically involved in skeletal muscle differentiation, one of its substrates in this process being ANKRD2. Down-regulation by RNA interference reduces the expression of the phosphorylated form of BAD, resulting in the induction of caspase-dependent apoptosis. Phosphorylates CLK2 on 'Thr-343'. Ubiquitinated; undergoes both 'Lys-48'- and 'Lys-63'-linked polyubiquitination. TRAF6-induced 'Lys-63'-linked AKT2 ubiquitination. When fully phosphorylated and translocated into the nucleus, undergoes 'Lys-48'-polyubiquitination catalyzed by TTC3, leading to its degradation by the proteasome.;Phosphorylation on Thr-309 and Ser-474 is required for full activity.;O-GlcNAcylation at Thr-306 and Thr-313 inhibits activating phosphorylation at Thr-309 via disrupting the interaction between AKT and PDK1. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. RAC subfamily. MAPK signaling pathway;ErbB signaling pathway;Chemokine signaling pathway;mTOR signaling pathway;Apoptosis;VEGF signaling pathway;Osteoclast differentiation;Focal adhesion;Tight junction;Toll-like receptor signaling pathway;Jak-STAT signaling pathway;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Neurotrophin signaling pathway;Cholinergic synapse;Dopaminergic synapse;Insulin signaling pathway;Progesterone-mediated oocyte maturation;Adipocytokine signaling pathway;Carbohydrate digestion and absorption;Chagas disease (American trypanosomiasis);Toxoplasmosis;Tuberculosis;Hepatitis C;Measles;Influenza A;HTLV-I infection;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Melanoma;Chronic myeloid leukemia;Acute myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;Translocation of SLC2A4 (GLUT4) to the plasma membrane;PIP3 activates AKT signaling;G beta:gamma signalling through PI3Kgamma;VEGFR2 mediated vascular permeability;CD28 dependent PI3K/Akt signaling;Cyclin E associated events during G1/S transition;TP53 Regulates Metabolic Genes;Activation of BAD and translocation to mitochondria;Deactivation of the beta-catenin transactivating complex;Cyclin A:Cdk2-associated events at S phase entry;AKT phosphorylates targets in the nucleus;Constitutive Signaling by AKT1 E17K in Cancer;CTLA4 inhibitory signaling;Activation of AKT2;AKT phosphorylates targets in the cytosol;Downregulation of ERBB2:ERBB3 signaling;Inhibition of TSC complex formation by PKB;PDE3B signalling;Negative regulation of the PI3K/AKT network;AKT-mediated inactivation of FOXO1A;Regulation of TP53 Activity through Acetylation;Regulation of TP53 Degradation;Regulation of TP53 Activity through Association with Co-factors;RAB GEFs exchange GTP for GDP on RABs;Regulation of PTEN stability and activity;RUNX2 regulates genes involved in cell migration;Estrogen-dependent nuclear events downstream of ESR-membrane signaling;Regulation of localization of FOXO transcription factors PE1 19 +NX_P31785 Cytokine receptor common subunit gamma 369 42287 5.9 1 Cell surface;Cytoplasmic vesicle;Cell membrane Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative;X-linked combined immunodeficiency Common subunit for the receptors for a variety of interleukins. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770). IL2RG is phosphorylated by JAK3 (Phosphotyrosine:PTM-0255) Belongs to the type I cytokine receptor family. Type 5 subfamily. Cytokine-cytokine receptor interaction;Endocytosis;Jak-STAT signaling pathway;Measles;HTLV-I infection;Primary immunodeficiency;RAF/MAP kinase cascade;Interleukin-7 signaling;Interleukin receptor SHC signaling;Interleukin-4 and Interleukin-13 signaling;Interleukin-15 signaling;Interleukin-9 signaling;Interleukin-2 signaling;Interleukin-21 signaling PE1 X +NX_P31930 Cytochrome b-c1 complex subunit 1, mitochondrial 480 52646 5.94 0 Cytosol;Mitochondrion inner membrane;Mitochondrion NA This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1. NA Belongs to the peptidase M16 family. UQCRC1/QCR1 subfamily. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport PE1 3 +NX_P31937 3-hydroxyisobutyrate dehydrogenase, mitochondrial 336 35329 8.38 0 Mitochondrion NA NA NA Belongs to the HIBADH-related family. 3-hydroxyisobutyrate dehydrogenase subfamily. Amino-acid degradation; L-valine degradation.;Valine, leucine and isoleucine degradation;Metabolic pathways;Branched-chain amino acid catabolism PE1 7 +NX_P31939 Bifunctional purine biosynthesis protein PURH 592 64616 6.27 0 Cytosol;Cell membrane AICAR transformylase/IMP cyclohydrolase deficiency Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis.;Promotes insulin receptor/INSR autophosphorylation and is involved in INSR internalization (PubMed:25687571). NA Belongs to the PurH family. Purine metabolism; IMP biosynthesis via de novo pathway; IMP from 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide: step 1/1.;Purine metabolism; IMP biosynthesis via de novo pathway; 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide (10-formyl THF route): step 1/1.;Purine metabolism;One carbon pool by folate;Metabolic pathways;Purine ribonucleoside monophosphate biosynthesis PE1 2 +NX_P31941 DNA dC->dU-editing enzyme APOBEC-3A 199 23012 6.34 0 Cytoplasm;Nucleus NA DNA deaminase (cytidine deaminase) with restriction activity against viruses, foreign DNA and mobility of retrotransposons. Exhibits antiviral activity against adeno-associated virus (AAV) and human T-cell leukemia virus type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons. Selectively targets single-stranded DNA and can deaminate both methylcytosine and cytosine in foreign DNA. Can induce somatic hypermutation in the nuclear and mitochondrial DNA. May also play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation. NA Belongs to the cytidine and deoxycytidylate deaminase family. mRNA Editing: C to U Conversion;Formation of the Editosome PE1 22 +NX_P31942 Heterogeneous nuclear ribonucleoprotein H3 346 36926 6.37 0 Nucleoplasm;Nucleus NA Involved in the splicing process and participates in early heat shock-induced splicing arrest. Due to their great structural variations the different isoforms may possess different functions in the splicing reaction. NA NA NA PE1 10 +NX_P31943 Heterogeneous nuclear ribonucleoprotein H 449 49229 5.89 0 Nucleoplasm NA This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Mediates pre-mRNA alternative splicing regulation. Inhibits, together with CUGBP1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Binds to the IR RNA. Binds poly(RG). NA NA mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA;FGFR2 alternative splicing PE1 5 +NX_P31944 Caspase-14 242 27680 5.44 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cytosol;Nucleus Ichthyosis, congenital, autosomal recessive 12 Non-apoptotic caspase involved in epidermal differentiation. Is the predominant caspase in epidermal stratum corneum (PubMed:15556625). Seems to play a role in keratinocyte differentiation and is required for cornification. Regulates maturation of the epidermis by proteolytically processing filaggrin (By similarity). In vitro has a preference for the substrate [WY]-X-X-D motif and is active on the synthetic caspase substrate WEHD-ACF (PubMed:16854378, PubMed:19960512). Involved in processing of prosaposin in the epidermis (By similarity). May be involved in retinal pigment epithelium cell barrier function (PubMed:25121097). Involved in DNA degradation in differentiated keratinocytes probably by cleaving DFFA/ICAD leading to liberation of DFFB/CAD (PubMed:24743736). Maturation by proteolytic processing appears to be a two-step process. The precursor is processed by KLK7 to yield the p20/p8 intermediate form which acts on the precursor to yield the p17/p10 mature form (PubMed:22825846). Initially, cleavage between Ile-152 and Lys-153 has been proposed to yield the large and small subunits of the active enzyme (PubMed:12200134). Belongs to the peptidase C14A family. Formation of the cornified envelope PE1 19 +NX_P31946 14-3-3 protein beta/alpha 246 28082 4.76 0 Vacuole membrane;Cytoplasm;Melanosome NA Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negative regulator of osteogenesis. Blocks the nuclear translocation of the phosphorylated form (by AKT1) of SRPK2 and antagonizes its stimulatory effect on cyclin D1 expression resulting in blockage of neuronal apoptosis elicited by SRPK2. Negative regulator of signaling cascades that mediate activation of MAP kinases via AKAP13. The alpha, brain-specific form differs from the beta form in being phosphorylated. Phosphorylated on Ser-60 by protein kinase C delta type catalytic subunit in a sphingosine-dependent fashion.;YWHAB is phosphorylated by IGF1R (Phosphotyrosine:PTM-0255) Belongs to the 14-3-3 family. Cell cycle;Oocyte meiosis;Neurotrophin signaling pathway;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Signaling by Hippo;Negative regulation of MAPK pathway;RAF activation;MAP2K and MAPK activation;TP53 Regulates Metabolic Genes;Activation of BAD and translocation to mitochondria;ARMS-mediated activation;mTOR signalling;mTORC1-mediated signalling;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;RHO GTPases activate PKNs;Frs2-mediated activation;Rap1 signalling;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;Regulation of localization of FOXO transcription factors PE1 20 +NX_P31947 14-3-3 protein sigma 248 27774 4.68 0 Cytoplasm;Secreted;Nucleus NA Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. When bound to KRT17, regulates protein synthesis and epithelial cell growth by stimulating Akt/mTOR pathway. May also regulate MDM2 autoubiquitination and degradation and thereby activate p53/TP53.;P53-regulated inhibitor of G2/M progression. Ubiquitinated. Ubiquitination by RFFL induces proteasomal degradation and indirectly regulates p53/TP53 activation. Belongs to the 14-3-3 family. Cell cycle;p53 signaling pathway;Aldosterone-regulated sodium reabsorption;Translocation of SLC2A4 (GLUT4) to the plasma membrane;TP53 Regulates Metabolic Genes;Activation of BAD and translocation to mitochondria;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;RHO GTPases activate PKNs;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;Regulation of localization of FOXO transcription factors PE1 1 +NX_P31948 Stress-induced-phosphoprotein 1 543 62639 6.4 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Acts as a co-chaperone for HSP90AA1 (PubMed:27353360). Mediates the association of the molecular chaperones HSPA8/HSC70 and HSP90 (By similarity). NA NA Prion diseases;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 11 +NX_P31949 Protein S100-A11 105 11740 6.56 0 Cytoplasm;Nucleus NA Facilitates the differentiation and the cornification of keratinocytes. Phosphorylation at Thr-10 by PRKCA significantly suppresses homodimerization and promotes association with NCL/nucleolin which induces nuclear translocation. Belongs to the S-100 family. Neutrophil degranulation PE1 1 +NX_P31994 Low affinity immunoglobulin gamma Fc region receptor II-b 310 34044 5.74 1 Cell membrane Systemic lupus erythematosus Fails to mediate endocytosis or phagocytosis.;Receptor for the Fc region of complexed or aggregated immunoglobulins gamma. Low affinity receptor. Involved in a variety of effector and regulatory functions such as phagocytosis of immune complexes and modulation of antibody production by B-cells. Binding to this receptor results in down-modulation of previous state of cell activation triggered via antigen receptors on B-cells (BCR), T-cells (TCR) or via another Fc receptor.;Does not trigger phagocytosis. Phosphorylated by the SRC-type Tyr-kinases LYN and BLK. NA Phagosome;Osteoclast differentiation;B cell receptor signaling pathway;Fc gamma R-mediated phagocytosis;Staphylococcus aureus infection;Tuberculosis;Measles;Systemic lupus erythematosus;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 1 +NX_P31995 Low affinity immunoglobulin gamma Fc region receptor II-c 323 35578 6.4 1 Cytoplasm;Cell membrane NA Receptor for the Fc region of complexed immunoglobulins gamma. Low affinity receptor. Involved in a variety of effector and regulatory functions such as phagocytosis of immune complexes and modulation of antibody production by B-cells. Phosphorylated by SRC-type Tyr-kinases such as LYN, BLK, FYN and SYK. NA NA PE1 1 +NX_P31997 Carcinoembryonic antigen-related cell adhesion molecule 8 349 38154 6.95 0 Cell surface;Cell membrane NA Cell surface glycoprotein that plays a role in cell adhesion in a calcium-independent manner (PubMed:8776764, PubMed:2022629, PubMed:11590190). Mediates heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM6 (PubMed:8776764, PubMed:2022629, PubMed:11590190). Heterophilic interaction with CEACAM8 occurs in activated neutrophils (PubMed:8776764). Glycosylated. Belongs to the immunoglobulin superfamily. CEA family. Cell surface interactions at the vascular wall;Fibronectin matrix formation;Neutrophil degranulation PE1 19 +NX_P32004 Neural cell adhesion molecule L1 1257 140003 5.84 1 Cell membrane;Growth cone;Nucleoplasm;Axon;Dendrite Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome;Hydrocephalus due to stenosis of the aqueduct of Sylvius;Agenesis of the corpus callosum, X-linked, partial Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity. L1CAM is phosphorylated by EPHB2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family. Axon guidance;Cell adhesion molecules (CAMs);Signal transduction by L1;Interaction between L1 and Ankyrins;Recycling pathway of L1;Basigin interactions;L1CAM interactions PE1 X +NX_P32019 Type II inositol 1,4,5-trisphosphate 5-phosphatase 993 112852 5.37 0 Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment;Phagosome membrane;Membrane;Early endosome membrane;Cytosol NA Hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtIns(4,5)P2) and the signaling molecule phosphatidylinositol 1,4,5-trisphosphate (PtIns(1,4,5)P3), and thereby modulates cellular signaling events. Isoprenylation at Cys-990 may be required for localization at the membrane.;May be proteolytically cleaved after Lys-320 as inferred from N-terminal protein sequence of the 75 kda form. Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Rho GTPase cycle;Synthesis of IP2, IP, and Ins in the cytosol;Synthesis of IP3 and IP4 in the cytosol PE1 1 +NX_P32119 Peroxiredoxin-2 198 21892 5.66 0 Cytoplasm NA Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events. Might participate in the signaling cascades of growth factors and tumor necrosis factor-alpha by regulating the intracellular concentrations of H(2)O(2). The enzyme can be inactivated by further oxidation of the cysteine sulfenic acid (C(P)-SOH) to sulphinic acid (C(P)-SO2H) instead of its condensation to a disulfide bond. It can be reactivated by forming a transient disulfide bond with sulfiredoxin SRXN1, which reduces the cysteine sulfinic acid in an ATP- and Mg-dependent manner. Belongs to the peroxiredoxin family. AhpC/Prx1 subfamily. Detoxification of Reactive Oxygen Species;TP53 Regulates Metabolic Genes;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models PE1 19 +NX_P32121 Beta-arrestin-2 409 46106 7.59 0 Cytoplasm;Cell membrane;Clathrin-coated pit;Cytoplasmic vesicle;Nucleus NA Functions in regulating agonist-mediated G-protein coupled receptor (GPCR) signaling by mediating both receptor desensitization and resensitization processes. During homologous desensitization, beta-arrestins bind to the GPRK-phosphorylated receptor and sterically preclude its coupling to the cognate G-protein; the binding appears to require additional receptor determinants exposed only in the active receptor conformation. The beta-arrestins target many receptors for internalization by acting as endocytic adapters (CLASPs, clathrin-associated sorting proteins) and recruiting the GPRCs to the adapter protein 2 complex 2 (AP-2) in clathrin-coated pits (CCPs). However, the extent of beta-arrestin involvement appears to vary significantly depending on the receptor, agonist and cell type. Internalized arrestin-receptor complexes traffic to intracellular endosomes, where they remain uncoupled from G-proteins. Two different modes of arrestin-mediated internalization occur. Class A receptors, like ADRB2, OPRM1, ENDRA, D1AR and ADRA1B dissociate from beta-arrestin at or near the plasma membrane and undergo rapid recycling. Class B receptors, like AVPR2, AGTR1, NTSR1, TRHR and TACR1 internalize as a complex with arrestin and traffic with it to endosomal vesicles, presumably as desensitized receptors, for extended periods of time. Receptor resensitization then requires that receptor-bound arrestin is removed so that the receptor can be dephosphorylated and returned to the plasma membrane. Mediates endocytosis of CCR7 following ligation of CCL19 but not CCL21. Involved in internalization of P2RY1, P2RY4, P2RY6 and P2RY11 and ATP-stimulated internalization of P2RY2. Involved in phosphorylation-dependent internalization of OPRD1 and subsequent recycling or degradation. Involved in ubiquitination of IGF1R. Beta-arrestins function as multivalent adapter proteins that can switch the GPCR from a G-protein signaling mode that transmits short-lived signals from the plasma membrane via small molecule second messengers and ion channels to a beta-arrestin signaling mode that transmits a distinct set of signals that are initiated as the receptor internalizes and transits the intracellular compartment. Acts as signaling scaffold for MAPK pathways such as MAPK1/3 (ERK1/2) and MAPK10 (JNK3). ERK1/2 and JNK3 activated by the beta-arrestin scaffold are largely excluded from the nucleus and confined to cytoplasmic locations such as endocytic vesicles, also called beta-arrestin signalosomes. Acts as signaling scaffold for the AKT1 pathway. GPCRs for which the beta-arrestin-mediated signaling relies on both ARRB1 and ARRB2 (codependent regulation) include ADRB2, F2RL1 and PTH1R. For some GPCRs the beta-arrestin-mediated signaling relies on either ARRB1 or ARRB2 and is inhibited by the other respective beta-arrestin form (reciprocal regulation). Increases ERK1/2 signaling in AGTR1- and AVPR2-mediated activation (reciprocal regulation). Involved in CCR7-mediated ERK1/2 signaling involving ligand CCL19. Is involved in type-1A angiotensin II receptor/AGTR1-mediated ERK activity. Is involved in type-1A angiotensin II receptor/AGTR1-mediated MAPK10 activity. Is involved in dopamine-stimulated AKT1 activity in the striatum by disrupting the association of AKT1 with its negative regulator PP2A. Involved in AGTR1-mediated chemotaxis. Appears to function as signaling scaffold involved in regulation of MIP-1-beta-stimulated CCR5-dependent chemotaxis. Involved in attenuation of NF-kappa-B-dependent transcription in response to GPCR or cytokine stimulation by interacting with and stabilizing CHUK. Suppresses UV-induced NF-kappa-B-dependent activation by interacting with CHUK. The function is promoted by stimulation of ADRB2 and dephosphorylation of ARRB2. Involved in p53/TP53-mediated apoptosis by regulating MDM2 and reducing the MDM2-mediated degradation of p53/TP53. May serve as nuclear messenger for GPCRs. Upon stimulation of OR1D2, may be involved in regulation of gene expression during the early processes of fertilization. Also involved in regulation of receptors other than GPCRs. Involved in endocytosis of TGFBR2 and TGFBR3 and down-regulates TGF-beta signaling such as NF-kappa-B activation. Involved in endocytosis of low-density lipoprotein receptor/LDLR. Involved in endocytosis of smoothened homolog/Smo, which also requires GRK2. Involved in endocytosis of SLC9A5. Involved in endocytosis of ENG and subsequent TGF-beta-mediated ERK activation and migration of epithelial cells. Involved in Toll-like receptor and IL-1 receptor signaling through the interaction with TRAF6 which prevents TRAF6 autoubiquitination and oligomerization required for activation of NF-kappa-B and JUN. Involved in insulin resistance by acting as insulin-induced signaling scaffold for SRC, AKT1 and INSR. Involved in regulation of inhibitory signaling of natural killer cells by recruiting PTPN6 and PTPN11 to KIR2DL1. Involved in IL8-mediated granule release in neutrophils. Involved in the internalization of the atypical chemokine receptor ACKR3. The ubiquitination status appears to regulate the formation and trafficking of beta-arrestin-GPCR complexes and signaling. Ubiquitination appears to occur GPCR-specific. Ubiquitinated by MDM2; the ubiquitination is required for rapid internalization of ADRB2. Deubiquitinated by USP33; the deubiquitination leads to a dissociation of the beta-arrestin-GPCR complex. Stimulation of a class A GPCR, such as ADRB2, induces transient ubiquitination and subsequently promotes association with USP33. Stimulation of a class B GPCR promotes a sustained ubiquitination.;Hydroxylation by PHD2 modulates the rate of internalization by slowing down recruitment to the plasma membrane and inhibiting subsequent co-internalization with class A receptors.;Phosphorylated at Thr-382 in the cytoplasm; probably dephosphorylated at the plasma membrane. The phosphorylation does not regulate internalization and recycling of ADRB2, interaction with clathrin or AP2B1. Belongs to the arrestin family. MAPK signaling pathway;Chemokine signaling pathway;Endocytosis;Dopaminergic synapse;Olfactory transduction;Phototransduction;G alpha (s) signalling events;Activation of SMO;MAP2K and MAPK activation;Thrombin signalling through proteinase activated receptors (PARs);WNT5A-dependent internalization of FZD4;Activated NOTCH1 Transmits Signal to the Nucleus;Ub-specific processing proteases;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 17 +NX_P32189 Glycerol kinase 559 61245 6.12 0 Mitochondrion outer membrane;Cytoplasm Glycerol kinase deficiency Key enzyme in the regulation of glycerol uptake and metabolism. NA Belongs to the FGGY kinase family. Polyol metabolism; glycerol degradation via glycerol kinase pathway; sn-glycerol 3-phosphate from glycerol: step 1/1.;Glycerolipid metabolism;Metabolic pathways;PPAR signaling pathway;Triglyceride biosynthesis PE1 X +NX_P32238 Cholecystokinin receptor type A 428 47841 9.37 7 Cell membrane NA Receptor for cholecystokinin. Mediates pancreatic growth and enzyme secretion, smooth muscle contraction of the gall bladder and stomach. Has a 1000-fold higher affinity for CCK rather than for gastrin. It modulates feeding and dopamine-induced behavior in the central and peripheral nervous system. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Pancreatic secretion;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 4 +NX_P32239 Gastrin/cholecystokinin type B receptor 447 48419 10.03 7 Cell membrane NA Receptor for gastrin and cholecystokinin. The CCK-B receptors occur throughout the central nervous system where they modulate anxiety, analgesia, arousal, and neuroleptic activity. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.;Is constitutively activated and may regulate cancer cell proliferation via a gastrin-independent mechanism. NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Gastric acid secretion;Peptide ligand-binding receptors;G alpha (q) signalling events;Gastrin-CREB signalling pathway via PKC and MAPK PE1 11 +NX_P32241 Vasoactive intestinal polypeptide receptor 1 457 51547 8.52 7 Cell membrane NA This is a receptor for VIP. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. The affinity is VIP = PACAP-27 > PACAP-38. NA Belongs to the G-protein coupled receptor 2 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Glucagon-type ligand receptors PE1 3 +NX_P32242 Homeobox protein OTX1 354 37327 9.41 0 Cytosol;Nucleus speckle;Nucleus NA Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5'-TCTAATCCC-3'. NA Belongs to the paired homeobox family. Bicoid subfamily. NA PE1 2 +NX_P32243 Homeobox protein OTX2 289 31636 9.4 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle Retinal dystrophy, early-onset, with or without pituitary dysfunction;Microphthalmia, syndromic, 5;Pituitary hormone deficiency, combined, 6 Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3'. NA Belongs to the paired homeobox family. Bicoid subfamily. NA PE1 14 +NX_P32245 Melanocortin receptor 4 332 36943 7.88 7 Cell membrane Obesity Receptor specific to the heptapeptide core common to adrenocorticotropic hormone and alpha-, beta-, and gamma-MSH. Plays a central role in energy homeostasis and somatic growth. This receptor is mediated by G proteins that stimulate adenylate cyclase (cAMP). NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Peptide ligand-binding receptors;G alpha (s) signalling events PE1 18 +NX_P32246 C-C chemokine receptor type 1 355 41173 8.38 7 Cell membrane NA Receptor for a C-C type chemokine. Binds to MIP-1-alpha, MIP-1-delta, RANTES, and MCP-3 and, less efficiently, to MIP-1-beta or MCP-1 and subsequently transduces a signal by increasing the intracellular calcium ions level. Responsible for affecting stem cell proliferation. NA Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines;Interleukin-10 signaling PE1 3 +NX_P32247 Bombesin receptor subtype-3 399 44411 8.99 7 Cell membrane NA Role in sperm cell division, maturation, or function. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 X +NX_P32248 C-C chemokine receptor type 7 378 42874 8.82 7 Mitochondrion;Cell membrane NA Receptor for the MIP-3-beta chemokine. Probable mediator of EBV effects on B-lymphocytes or of normal lymphocyte functions. NA Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 17 +NX_P32249 G-protein coupled receptor 183 361 41224 9.31 7 Cytoplasmic vesicle;Nucleus membrane;Cell membrane NA G-protein coupled receptor expressed in lymphocytes that acts as a chemotactic receptor for B-cells, T-cells, splenic dendritic cells, monocytes/macrophages and astrocytes (By similarity). Receptor for oxysterol 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC) and other related oxysterols (PubMed:21796212, PubMed:22875855, PubMed:22930711). Mediates cell positioning and movement of a number of cells by binding the 7-alpha,25-OHC ligand that forms a chemotactic gradient (By similarity). Binding of 7-alpha,25-OHC mediates the correct localization of B-cells during humoral immune responses (By similarity). Guides B-cell movement along the B-cell zone-T-cell zone boundary and later to interfollicular and outer follicular regions (By similarity). Its specific expression during B-cell maturation helps position B-cells appropriately for mounting T-dependent antibody responses (By similarity). Collaborates with CXCR5 to mediate B-cell migration; probably by forming a heterodimer with CXCR5 that affects the interaction between of CXCL13 and CXCR5 (PubMed:22913878). Also acts as a chemotactic receptor for some T-cells upon binding to 7-alpha,25-OHC ligand (By similarity). Promotes follicular helper T (Tfh) cells differentiation by positioning activated T-cells at the follicle-T-zone interface, promoting contact of newly activated CD4 T-cells with activated dendritic cells and exposing them to Tfh-cell-promoting inducible costimulator (ICOS) ligand (By similarity). Expression in splenic dendritic cells is required for their homeostasis, localization and ability to induce B- and T-cell responses: GPR183 acts as a chemotactic receptor in dendritic cells that mediates the accumulation of CD4(+) dendritic cells in bridging channels (By similarity). Regulates migration of astrocytes and is involved in communication between astrocytes and macrophages (PubMed:25297897). Promotes osteoclast precursor migration to bone surfaces (By similarity). Signals constitutively through G(i)-alpha, but not G(s)-alpha or G(q)-alpha (PubMed:21673108, PubMed:25297897). Signals constitutively also via MAPK1/3 (ERK1/2) (By similarity). NA Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;Class A/1 (Rhodopsin-like receptors) PE1 13 +NX_P32297 Neuronal acetylcholine receptor subunit alpha-3 505 57480 6.05 4 Cell membrane;Postsynaptic cell membrane NA After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-3/CHRNA3 sub-subfamily. Neuroactive ligand-receptor interaction;Cholinergic synapse;Highly calcium permeable postsynaptic nicotinic acetylcholine receptors;Highly sodium permeable acetylcholine nicotinic receptors;Highly calcium permeable nicotinic acetylcholine receptors PE1 15 +NX_P32298 G protein-coupled receptor kinase 4 578 66583 7.93 0 Cytoplasmic vesicle;Cytoplasm;Cell cortex NA Specifically phosphorylates the activated forms of G protein-coupled receptors. GRK4-alpha can phosphorylate rhodopsin and its activity is inhibited by calmodulin; the other three isoforms do not phosphorylate rhodopsin and do not interact with calmodulin. GRK4-alpha and GRK4-gamma phosphorylate DRD3. Phosphorylates ADRB2. Palmitoylated. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily. Chemokine signaling pathway;Endocytosis;Inactivation, recovery and regulation of the phototransduction cascade PE1 4 +NX_P32302 C-X-C chemokine receptor type 5 372 41955 8.52 7 Cell membrane NA Cytokine receptor that binds to B-lymphocyte chemoattractant (BLC). Involved in B-cell migration into B-cell follicles of spleen and Peyer patches but not into those of mesenteric or peripheral lymph nodes. May have a regulatory function in Burkitt lymphoma (BL) lymphomagenesis and/or B-cell differentiation. NA Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 11 +NX_P32314 Forkhead box protein N2 431 47161 5.98 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Binds to the purine-rich region in HTLV-I LTR. NA NA NA PE1 2 +NX_P32320 Cytidine deaminase 146 16185 6.55 0 Nucleoplasm NA This enzyme scavenges exogenous and endogenous cytidine and 2'-deoxycytidine for UMP synthesis. NA Belongs to the cytidine and deoxycytidylate deaminase family. Pyrimidine metabolism;Drug metabolism - other enzymes;Metabolic pathways;Pyrimidine salvage;Neutrophil degranulation PE1 1 +NX_P32321 Deoxycytidylate deaminase 178 20016 7.5 0 Nucleoplasm;Cytosol NA Supplies the nucleotide substrate for thymidylate synthetase. NA Belongs to the cytidine and deoxycytidylate deaminase family. Pyrimidine metabolism;Metabolic pathways;Interconversion of nucleotide di- and triphosphates PE1 4 +NX_P32322 Pyrroline-5-carboxylate reductase 1, mitochondrial 319 33361 7.18 0 Mitochondrion Cutis laxa, autosomal recessive, 2B;Cutis laxa, autosomal recessive, 3B Housekeeping enzyme that catalyzes the last step in proline biosynthesis. Can utilize both NAD and NADP, but has higher affinity for NAD. Involved in the cellular response to oxidative stress. NA Belongs to the pyrroline-5-carboxylate reductase family. Amino-acid biosynthesis; L-proline biosynthesis; L-proline from L-glutamate 5-semialdehyde: step 1/1.;Arginine and proline metabolism;Metabolic pathways;Glutamate and glutamine metabolism PE1 17 +NX_P32418 Sodium/calcium exchanger 1 973 108547 4.91 10 Nucleoplasm;Cell membrane NA Mediates the exchange of one Ca(2+) ion against three to four Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes (PubMed:1374913, PubMed:11241183, PubMed:1476165). Contributes to Ca(2+) transport during excitation-contraction coupling in muscle. In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum. SLC8A1 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels rapidly return to baseline. Required for normal embryonic heart development and the onset of heart contractions. NA Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC8 subfamily. Calcium signaling pathway;Cardiac muscle contraction;Endocrine and other factor-regulated calcium reabsorption;Protein digestion and absorption;Mineral absorption;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Reduction of cytosolic Ca++ levels;Sodium/Calcium exchangers;Ion homeostasis PE1 2 +NX_P32455 Guanylate-binding protein 1 592 67931 5.97 0 Golgi apparatus membrane;Cytoplasm;Secreted;Cell membrane NA Hydrolyzes GTP to GMP in 2 consecutive cleavage reactions. Exhibits antiviral activity against influenza virus. Promote oxidative killing and deliver antimicrobial peptides to autophagolysosomes, providing broad host protection against different pathogen classes. Isoprenylation is required for proper subcellular location. Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily. Interferon gamma signaling PE1 1 +NX_P32456 Guanylate-binding protein 2 591 67209 5.54 0 Cytoplasm;Membrane;Nucleoplasm;Golgi apparatus membrane;Cytosol;Perinuclear region;Cytoskeleton NA Hydrolyzes GTP to GMP in 2 consecutive cleavage reactions, but the major reaction product is GDP (PubMed:8706832). Exhibits antiviral activity against influenza virus. Promote oxidative killing and deliver antimicrobial peptides to autophagolysosomes, providing broad host protection against different pathogen classes (By similarity). Isoprenylation is required for proper subcellular location. Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily. Interferon gamma signaling;Interferon alpha/beta signaling PE1 1 +NX_P32519 ETS-related transcription factor Elf-1 619 67498 5.09 0 Nucleoplasm;Nucleus NA Transcription factor that activates the LYN and BLK promoters. Appears to be required for the T-cell-receptor-mediated trans activation of HIV-2 gene expression. Binds specifically to two purine-rich motifs in the HIV-2 enhancer. NA Belongs to the ETS family. RUNX1 regulates transcription of genes involved in BCR signaling;RUNX1 regulates transcription of genes involved in interleukin signaling PE1 13 +NX_P32745 Somatostatin receptor type 3 418 45847 8.91 7 Cell membrane NA Receptor for somatostatin-14 and -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase. Phosphorylated. Phosphorylation increases upon somatostatin binding (By similarity). Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors;BBSome-mediated cargo-targeting to cilium PE1 22 +NX_P32754 4-hydroxyphenylpyruvate dioxygenase 393 44934 6.52 0 Nucleus speckle Tyrosinemia 3;Hawkinsinuria Key enzyme in the degradation of tyrosine. NA Belongs to the 4HPPD family. Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 3/6.;Ubiquinone and other terpenoid-quinone biosynthesis;Tyrosine metabolism;Phenylalanine metabolism;Metabolic pathways;Tyrosine catabolism PE1 12 +NX_P32780 General transcription factor IIH subunit 1 548 62032 8.8 0 Nucleoplasm;Nucleus NA Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. NA Belongs to the TFB1 family. Basal transcription factors;Nucleotide excision repair;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Tat-mediated elongation of the HIV-1 transcript;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER;TP53 Regulates Transcription of DNA Repair Genes PE1 11 +NX_P32856 Syntaxin-2 288 33341 5.92 1 Membrane;Nucleoplasm;Cytosol NA Essential for epithelial morphogenesis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm. NA Belongs to the syntaxin family. SNARE interactions in vesicular transport;Synaptic vesicle cycle PE1 12 +NX_P32881 Interferon alpha-8 189 21989 5.32 0 Secreted NA Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase. NA Belongs to the alpha/beta interferon family. Cytokine-cytokine receptor interaction;Regulation of autophagy;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Tuberculosis;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Autoimmune thyroid disease;Factors involved in megakaryocyte development and platelet production;Interferon alpha/beta signaling;Regulation of IFNA signaling;TRAF6 mediated IRF7 activation PE1 9 +NX_P32926 Desmoglein-3 999 107533 4.86 1 Desmosome;Cell membrane NA Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. NA NA Apoptotic cleavage of cell adhesion proteins;Formation of the cornified envelope;Keratinization PE1 18 +NX_P32927 Cytokine receptor common subunit beta 897 97336 5.33 1 Membrane;Golgi apparatus Pulmonary surfactant metabolism dysfunction 5 High affinity receptor for interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor. May be phosphorylated by LYN.;CSF2RB is phosphorylated by PIK3CB Belongs to the type I cytokine receptor family. Type 4 subfamily. Cytokine-cytokine receptor interaction;Apoptosis;Jak-STAT signaling pathway;RAF/MAP kinase cascade;Interleukin receptor SHC signaling;Interleukin-3, Interleukin-5 and GM-CSF signaling;Surfactant metabolism;Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5);Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4) PE1 22 +NX_P32929 Cystathionine gamma-lyase 405 44508 6.21 0 Cytoplasm Cystathioninuria Catalyzes the last step in the trans-sulfuration pathway from methionine to cysteine. Has broad substrate specificity. Converts cystathionine to cysteine, ammonia and 2-oxobutanoate. Converts two cysteine molecules to lanthionine and hydrogen sulfide. Can also accept homocysteine as substrate. Specificity depends on the levels of the endogenous substrates. Generates the endogenous signaling molecule hydrogen sulfide (H2S), and so contributes to the regulation of blood pressure. Acts as a cysteine-protein sulfhydrase by mediating sulfhydration of target proteins: sulfhydration consists of converting -SH groups into -SSH on specific cysteine residues of target proteins such as GAPDH, PTPN1 and NF-kappa-B subunit RELA, thereby regulating their function. NA Belongs to the trans-sulfuration enzymes family. Amino-acid biosynthesis; L-cysteine biosynthesis; L-cysteine from L-homocysteine and L-serine: step 2/2.;Glycine, serine and threonine metabolism;Cysteine and methionine metabolism;Selenocompound metabolism;Nitrogen metabolism;Metabolic pathways;Degradation of cysteine and homocysteine;Cysteine formation from homocysteine;Metabolism of ingested SeMet, Sec, MeSec into H2Se PE1 1 +NX_P32942 Intercellular adhesion molecule 3 547 59541 5.31 1 Membrane;Nucleoplasm;Mitochondrion;Nucleus membrane NA ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2) (PubMed:1448173). ICAM3 is also a ligand for integrin alpha-D/beta-2. In association with integrin alpha-L/beta-2, contributes to apoptotic neutrophil phagocytosis by macrophages (PubMed:23775590). Upon stimulation by a physiologic stimuli becomes rapidly and transiently phosphorylated on serine residues.;N-glycosylated; glycans consist of a mixture of tri- and tetra-antennary complex-type chains and high-mannose chains. Belongs to the immunoglobulin superfamily. ICAM family. Cell adhesion molecules (CAMs);Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Integrin cell surface interactions;CD209 (DC-SIGN) signaling PE1 19 +NX_P32969 60S ribosomal protein L9 192 21863 9.96 0 Endoplasmic reticulum;Cytoplasm;Cytosol;Nucleolus NA NA NA Belongs to the universal ribosomal protein uL6 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 X +NX_P32970 CD70 antigen 193 21118 8.93 1 Membrane;Nucleoplasm Lymphoproliferative syndrome 3 Cytokine which is the ligand for CD27. The CD70-CD27 pathway plays an important role in the generation and maintenance of T cell immunity, in particular during antiviral responses. Upon CD27 binding, induces the proliferation of costimulated T-cells and enhances the generation of cytolytic T-cells. NA Belongs to the tumor necrosis factor family. Cytokine-cytokine receptor interaction;TNFs bind their physiological receptors PE1 19 +NX_P32971 Tumor necrosis factor ligand superfamily member 8 234 26017 7.62 1 Membrane NA Cytokine that binds to TNFRSF8/CD30. Induces proliferation of T-cells. NA Belongs to the tumor necrosis factor family. Cytokine-cytokine receptor interaction;TNFs bind their physiological receptors PE1 9 +NX_P33032 Melanocortin receptor 5 325 36601 8.75 7 Cell membrane NA Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. This receptor is a possible mediator of the immunomodulation properties of melanocortins. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Peptide ligand-binding receptors;G alpha (s) signalling events PE1 18 +NX_P33076 MHC class II transactivator 1130 123514 5.3 0 Nucleoplasm;Nucleus;PML body Bare lymphocyte syndrome 2 Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter. No DNA binding of in vitro translated CIITA was detected. May act in a coactivator-like fashion through protein-protein interactions by contacting factors binding to the proximal MHC class II promoter, to elements of the transcription machinery, or both. Alternatively it may activate HLA class II transcription by modifying proteins that bind to the MHC class II promoter. Also mediates enhanced MHC class I transcription; the promoter element requirements for CIITA-mediated transcription are distinct from those of constitutive MHC class I transcription, and CIITA can functionally replace TAF1 at these genes. Exhibits intrinsic GTP-stimulated acetyltransferase activity. Exhibits serine/threonine protein kinase activity: can phosphorylate the TFIID component TAF7, the RAP74 subunit of the general transcription factor TFIIF, histone H2B at 'Ser-37' and other histones (in vitro). Autophosphorylated, affecting interaction with TAF7. NA Antigen processing and presentation;Toxoplasmosis;Tuberculosis;Influenza A;Primary immunodeficiency;Interferon gamma signaling PE1 16 +NX_P33121 Long-chain-fatty-acid--CoA ligase 1 698 77943 6.81 1 Microsome membrane;Mitochondrion outer membrane;Endoplasmic reticulum membrane;Mitochondrion;Peroxisome membrane;Nucleoplasm NA Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:24269233, PubMed:22633490). Preferentially uses palmitoleate, oleate and linoleate (PubMed:24269233). Preferentially activates arachidonate than epoxyeicosatrienoic acids (EETs) or hydroxyeicosatrienoic acids (HETEs) (By similarity). NA Belongs to the ATP-dependent AMP-binding enzyme family. Fatty acid metabolism;Metabolic pathways;PPAR signaling pathway;Peroxisome;Adipocytokine signaling pathway;PPARA activates gene expression;Synthesis of very long-chain fatty acyl-CoAs;Linoleic acid (LA) metabolism;alpha-linolenic acid (ALA) metabolism PE1 4 +NX_P33151 Cadherin-5 784 87528 5.22 1 Nucleoplasm;Cell junction;Nucleus membrane;Cell membrane NA Cadherins are calcium-dependent cell adhesion proteins (By similarity). They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types (PubMed:21269602). This cadherin may play a important role in endothelial cell biology through control of the cohesion and organization of the intercellular junctions (By similarity). It associates with alpha-catenin forming a link to the cytoskeleton (PubMed:10861224). Acts in concert with KRIT1 and MPP5 to establish and maintain correct endothelial cell polarity and vascular lumen (By similarity). These effects are mediated by recruitment and activation of the Par polarity complex and RAP1B (PubMed:20332120). Required for activation of PRKCZ and for the localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction (PubMed:20332120). Phosphorylated on tyrosine residues by KDR/VEGFR-2. Dephosphorylated by PTPRB (By similarity).;O-glycosylated. NA Cell adhesion molecules (CAMs);Leukocyte transendothelial migration;VEGFR2 mediated vascular permeability;Adherens junctions interactions PE1 16 +NX_P33176 Kinesin-1 heavy chain 963 109685 6.12 0 Cytosol;Centriolar satellite;Cytoskeleton NA Microtubule-dependent motor required for normal distribution of mitochondria and lysosomes. Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner (By similarity). Regulates centrosome and nuclear positioning during mitotic entry. During the G2 phase of the cell cycle in a BICD2-dependent manner, antagonizes dynein function and drives the separation of nuclei and centrosomes (PubMed:20386726). Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation (By similarity). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin subfamily. Dopaminergic synapse;MHC class II antigen presentation;Insulin processing;Kinesins;RHO GTPases activate KTN1;COPI-dependent Golgi-to-ER retrograde traffic PE1 10 +NX_P33240 Cleavage stimulation factor subunit 2 577 60959 6.36 0 Nucleoplasm;Nucleus NA One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs. This subunit is directly involved in the binding to pre-mRNAs (By similarity). NA NA mRNA surveillance pathway;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Processing of Intronless Pre-mRNAs;tRNA processing in the nucleus;RNA Polymerase II Transcription Termination PE1 X +NX_P33241 Lymphocyte-specific protein 1 339 37192 4.69 0 Cell membrane NA May play a role in mediating neutrophil activation and chemotaxis. Phosphorylated by casein kinase II, protein kinase C and MAPKAPK2. Phosphorylation by PKC induces translocation from membrane to cytoplasm. Phosphorylation by MAPKAPK2 may regulate neutrophil chemotaxis (By similarity). NA Tuberculosis PE1 11 +NX_P33260 Cytochrome P450 2C18 490 55711 6.83 0 Microsome membrane;Endoplasmic reticulum membrane NA Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. NA Belongs to the cytochrome P450 family. Arachidonic acid metabolism;Linoleic acid metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;Xenobiotics PE1 10 +NX_P33261 Cytochrome P450 2C19 490 55931 7.11 0 Microsome membrane;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of polyunsaturated fatty acids (PUFA) (PubMed:18577768, PubMed:19965576, PubMed:20972997). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:18577768, PubMed:19965576, PubMed:20972997). Catalyzes the hydroxylation of carbon-hydrogen bonds. Hydroxylates PUFA specifically at the omega-1 position (PubMed:18577768). Catalyzes the epoxidation of double bonds of PUFA (PubMed:20972997, PubMed:19965576). Also metabolizes plant monoterpenes such as limonene. Oxygenates (R)- and (S)-limonene to produce carveol and perillyl alcohol (PubMed:11950794). Responsible for the metabolism of a number of therapeutic agents such as the anticonvulsant drug S-mephenytoin, omeprazole, proguanil, certain barbiturates, diazepam, propranolol, citalopram and imipramine. Hydroxylates fenbendazole at the 4' position (PubMed:23959307). NA Belongs to the cytochrome P450 family. Terpene metabolism; (4R)-limonene degradation.;Lipid metabolism; fatty acid metabolism.;Arachidonic acid metabolism;Linoleic acid metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;Xenobiotics;Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET);CYP2E1 reactions;Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) PE1 10 +NX_P33316 Deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial 252 26563 9.46 0 Nucleoplasm;Mitochondrion;Nucleus NA This enzyme is involved in nucleotide metabolism: it produces dUMP, the immediate precursor of thymidine nucleotides and it decreases the intracellular concentration of dUTP so that uracil cannot be incorporated into DNA. Is not phosphorylated.;Nuclear isoform 2 is phosphorylated in vivo on Ser-11, a reaction that can be catalyzed in vitro by CDC2. Phosphorylation in mature T-cells occurs in a cell cycle-dependent manner. Belongs to the dUTPase family. Pyrimidine metabolism; dUMP biosynthesis; dUMP from dCTP (dUTP route): step 2/2.;Pyrimidine metabolism;Metabolic pathways;Interconversion of nucleotide di- and triphosphates PE1 15 +NX_P33402 Guanylate cyclase soluble subunit alpha-2 732 81750 7.77 0 Cytoplasm NA Has guanylyl cyclase on binding to the beta-1 subunit.;Acts as a negative regulator of guanylyl cyclase activity as it forms non-functional heterodimers with the beta subunits. NA Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Vascular smooth muscle contraction;Gap junction;Long-term depression;Salivary secretion;Smooth Muscle Contraction;Nitric oxide stimulates guanylate cyclase PE1 11 +NX_P33527 Multidrug resistance-associated protein 1 1531 171591 6.71 17 Cell membrane NA Mediates export of organic anions and drugs from the cytoplasm (PubMed:7961706, PubMed:16230346, PubMed:9281595, PubMed:10064732, PubMed:11114332). Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estradiol-17-beta-o-glucuronide, methotrexate, antiviral drugs and other xenobiotics (PubMed:7961706, PubMed:16230346, PubMed:9281595, PubMed:10064732, PubMed:11114332). Confers resistance to anticancer drugs by decreasing accumulation of drug in cells, and by mediating ATP- and GSH-dependent drug export (PubMed:9281595). Hydrolyzes ATP with low efficiency (PubMed:16230346). Catalyzes the export of sphingosine 1-phosphate from mast cells independently of their degranulation (PubMed:17050692). Participates in inflammatory response by allowing export of leukotriene C4 from leukotriene C4-synthezing cells (By similarity). NA Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. ABC transporters;Vitamin digestion and absorption;Cobalamin (Cbl, vitamin B12) transport and metabolism;ABC-family proteins mediated transport;Synthesis of Leukotrienes (LT) and Eoxins (EX) PE1 16 +NX_P33552 Cyclin-dependent kinases regulatory subunit 2 79 9860 8.07 0 Cytoplasm NA Binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. NA Belongs to the CKS family. NA PE1 9 +NX_P33681 T-lymphocyte activation antigen CD80 288 33048 7.58 1 Membrane NA (Microbial infection) Acts as a receptor for adenovirus subgroup B.;Involved in the costimulatory signal essential for T-lymphocyte activation. T-cell proliferation and cytokine production is induced by the binding of CD28, binding to CTLA-4 has opposite effects and inhibits T-cell activation. NA NA Cell adhesion molecules (CAMs);Toll-like receptor signaling pathway;Intestinal immune network for IgA production;Type I diabetes mellitus;Autoimmune thyroid disease;Systemic lupus erythematosus;Rheumatoid arthritis;Allograft rejection;Graft-versus-host disease;Viral myocarditis;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;CD28 dependent PI3K/Akt signaling;CD28 co-stimulation;CD28 dependent Vav1 pathway;CTLA4 inhibitory signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Interleukin-10 signaling PE1 3 +NX_P33763 Protein S100-A5 92 10744 5.01 0 Nucleoplasm NA Binds calcium, zinc and copper. One subunit can simultaneously bind 2 calcium ions or 2 copper ions plus 1 zinc ion. Calcium and copper ions compete for the same binding sites. NA Belongs to the S-100 family. NA PE1 1 +NX_P33764 Protein S100-A3 101 11713 4.71 0 Golgi apparatus;Cytosol;Cytoplasm;Cell membrane NA Binds both calcium and zinc. May be involved in calcium-dependent cuticle cell differentiation, hair shaft and hair cuticular barrier formation. More than half of the arginine residues undergo citrullination by PAD1 and PAD2. Arg-51 is specifically citrullinated by PAD3 and promotes tetramerization. Belongs to the S-100 family. NA PE1 1 +NX_P33778 Histone H2B type 1-B 126 13950 10.31 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes (By similarity).;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination.;Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons. Belongs to the histone H2B family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;G2/M DNA damage checkpoint;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Ub-specific processing proteases;E3 ubiquitin ligases ubiquitinate target proteins;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 6 +NX_P33897 ATP-binding cassette sub-family D member 1 745 82937 9.09 5 Mitochondrion membrane;Peroxisome membrane;Lysosome membrane;Endoplasmic reticulum membrane Adrenoleukodystrophy Plays a role in the transport of free very-long-chain fatty acids (VLCFAs) as well as their CoA-esters across the peroxisomal membrane by acting as an ATP-specific binding subunit releasing ADP after ATP hydrolysis (PubMed:15682271, PubMed:11248239, PubMed:16946495). Thus, plays a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation, mitochondrial function and microsomal fatty acid elongation (PubMed:23671276). Involved in several processes; namely, controls the active myelination phase by negatively regulating the microsomal fatty acid elongation activity and may also play a role in axon and myelin maintenance. Controls also the cellular response to oxidative stress by regulating mitochondrial function like, mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs (By similarity). Tyrosine-phosphorylated. Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. ABC transporters;Peroxisome;ABC transporters in lipid homeostasis;Linoleic acid (LA) metabolism;alpha-linolenic acid (ALA) metabolism;Beta-oxidation of very long chain fatty acids;Defective ABCD1 causes adrenoleukodystrophy (ALD);Class I peroxisomal membrane protein import PE1 X +NX_P33908 Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA 653 72969 6.04 1 Golgi apparatus;Golgi apparatus membrane NA Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2). NA Belongs to the glycosyl hydrolase 47 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Protein processing in endoplasmic reticulum;Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2;Intra-Golgi traffic PE1 6 +NX_P33947 ER lumen protein-retaining receptor 2 212 24422 8.86 7 COPI-coated vesicle membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane NA Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum (PubMed:1325562, PubMed:18086916). Binding is pH dependent, and is optimal at pH 5-5.4 (By similarity). NA Belongs to the ERD2 family. Vibrio cholerae infection;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 7 +NX_P33981 Dual specificity protein kinase TTK 857 97072 8.41 0 Cytosol;Nucleolus NA Phosphorylates proteins on serine, threonine, and tyrosine. Probably associated with cell proliferation. Essential for chromosome alignment by enhancing AURKB activity (via direct CDCA8 phosphorylation) at the centromere, and for the mitotic checkpoint. NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Cell cycle PE1 6 +NX_P33991 DNA replication licensing factor MCM4 863 96558 6.28 0 Nucleoplasm;Nucleus Immunodeficiency 54 Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. Sumoylated; SUMO2 modified in response to stress caused by inhibition of proteasome activity (in vitro). Belongs to the MCM family. DNA replication;Cell cycle;Orc1 removal from chromatin;Activation of ATR in response to replication stress;Assembly of the pre-replicative complex;Activation of the pre-replicative complex;Unwinding of DNA;Switching of origins to a post-replicative state PE1 8 +NX_P33992 DNA replication licensing factor MCM5 734 82286 8.64 0 Nucleoplasm;Cytosol;Nucleus Meier-Gorlin syndrome 8 Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity (By similarity). Interacts with MCMBP. NA Belongs to the MCM family. DNA replication;Cell cycle;Orc1 removal from chromatin;Activation of ATR in response to replication stress;Assembly of the pre-replicative complex;Activation of the pre-replicative complex;Unwinding of DNA;Switching of origins to a post-replicative state PE1 22 +NX_P33993 DNA replication licensing factor MCM7 719 81308 6.08 0 Nucleoplasm;Nucleus NA Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. Required for S-phase checkpoint activation upon UV-induced damage. O-glycosylated (O-GlcNAcylated), in a cell cycle-dependent manner. Belongs to the MCM family. DNA replication;Cell cycle;Orc1 removal from chromatin;Activation of ATR in response to replication stress;Assembly of the pre-replicative complex;Activation of the pre-replicative complex;Unwinding of DNA;Switching of origins to a post-replicative state PE1 7 +NX_P34059 N-acetylgalactosamine-6-sulfatase 522 58026 6.25 0 Cytosol;Lysosome Mucopolysaccharidosis 4A NA The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. Belongs to the sulfatase family. Glycosaminoglycan degradation;Metabolic pathways;Lysosome;Keratan sulfate degradation;MPS IV - Morquio syndrome A;Neutrophil degranulation PE1 16 +NX_P34096 Ribonuclease 4 147 16840 9.3 0 Secreted NA This RNase has marked specificity towards the 3' side of uridine nucleotides. NA Belongs to the pancreatic ribonuclease family. NA PE1 14 +NX_P34130 Neurotrophin-4 210 22427 9.01 0 Golgi apparatus;Secreted Glaucoma 1, open angle, O Target-derived survival factor for peripheral sensory sympathetic neurons. NA Belongs to the NGF-beta family. MAPK signaling pathway;Neurotrophin signaling pathway;Activated NTRK2 signals through RAS;Activated NTRK2 signals through FRS2 and FRS3;NTF4 activates NTRK2 (TRKB) signaling;Activated NTRK2 signals through PLCG1;Activated NTRK2 signals through PI3K PE1 19 +NX_P34741 Syndecan-2 201 22160 4.75 1 Membrane;Cytosol;Cell membrane NA Cell surface proteoglycan that bears heparan sulfate. Regulates dendritic arbor morphogenesis (By similarity). O-glycosylated with core 1 or possibly core 8 glycans. Contains heparan sulfate. Belongs to the syndecan proteoglycan family. ECM-receptor interaction;Cell adhesion molecules (CAMs);Malaria;Retinoid metabolism and transport;EPHB-mediated forward signaling;HS-GAG biosynthesis;A tetrasaccharide linker sequence is required for GAG synthesis;HS-GAG degradation;Syndecan interactions;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;Defective EXT2 causes exostoses 2;Defective EXT1 causes exostoses 1, TRPS2 and CHDS;Cell surface interactions at the vascular wall;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Defective B3GALT6 causes EDSP2 and SEMDJL1;Post-translational protein phosphorylation PE1 8 +NX_P34810 Macrosialin 354 37408 9.1 1 Golgi apparatus;Endosome membrane;Cell membrane;Lysosome membrane;Cytoplasmic vesicle NA Could play a role in phagocytic activities of tissue macrophages, both in intracellular lysosomal metabolism and extracellular cell-cell and cell-pathogen interactions. Binds to tissue- and organ-specific lectins or selectins, allowing homing of macrophage subsets to particular sites. Rapid recirculation of CD68 from endosomes and lysosomes to the plasma membrane may allow macrophages to crawl over selectin-bearing substrates or other cells. N- and O-glycosylated. Belongs to the LAMP family. Lysosome;Neutrophil degranulation PE1 17 +NX_P34820 Bone morphogenetic protein 8B 402 44768 8.76 0 Secreted NA Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity). NA Belongs to the TGF-beta family. Hedgehog signaling pathway;TGF-beta signaling pathway PE1 1 +NX_P34896 Serine hydroxymethyltransferase, cytosolic 483 53083 7.61 0 Nucleoplasm;Cytosol;Cytoplasm NA Interconversion of serine and glycine (PubMed:8505317, PubMed:24698160). NA Belongs to the SHMT family. One-carbon metabolism; tetrahydrofolate interconversion.;Glycine, serine and threonine metabolism;Cyanoamino acid metabolism;One carbon pool by folate;Metabolic pathways;Metabolism of folate and pterines;Carnitine synthesis PE1 17 +NX_P34897 Serine hydroxymethyltransferase, mitochondrial 504 55993 8.76 0 Cytoplasm;Mitochondrion;Mitochondrion nucleoid;Mitochondrion inner membrane;Nucleus;Cytoskeleton NA Catalyzes the cleavage of serine to glycine accompanied with the production of 5,10-methylenetetrahydrofolate, an essential intermediate for purine biosynthesis (PubMed:24075985, PubMed:29364879, PubMed:25619277). Serine provides the major source of folate one-carbon in cells by catalyzing the transfer of one carbon from serine to tetrahydrofolate (PubMed:25619277). Contributes to the de novo mitochondrial thymidylate biosynthesis pathway via its role in glycine and tetrahydrofolate metabolism: thymidylate biosynthesis is required to prevent uracil accumulation in mtDNA (PubMed:21876188). Also required for mitochondrial translation by producing 5,10-methylenetetrahydrofolate; 5,10-methylenetetrahydrofolate providing methyl donors to produce the taurinomethyluridine base at the wobble position of some mitochondrial tRNAs (PubMed:29452640, PubMed:29364879). Associates with mitochondrial DNA (PubMed:18063578). In addition to its role in mitochondria, also plays a role in the deubiquitination of target proteins as component of the BRISC complex: required for IFNAR1 deubiquitination by the BRISC complex (PubMed:24075985). Succinylation at Lys-280 inhibits the hydroxymethyltransferase activity. Desuccinylation by SIRT5 restores the activity, leading to promote cell proliferation. Belongs to the SHMT family. One-carbon metabolism; tetrahydrofolate interconversion.;Glycine, serine and threonine metabolism;Cyanoamino acid metabolism;One carbon pool by folate;Metabolic pathways;Metabolism of folate and pterines PE1 12 +NX_P34903 Gamma-aminobutyric acid receptor subunit alpha-3 492 55165 8.81 4 Cell membrane;Postsynaptic cell membrane NA GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA3 sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse;GABA receptor activation PE1 X +NX_P34910 Protein EVI2B 448 48666 4.67 1 Membrane NA Required for granulocyte differentiation and functionality of hematopoietic progenitor cells through the control of cell cycle progression and survival of hematopoietic progenitor cells. NA NA NA PE1 17 +NX_P34913 Bifunctional epoxide hydrolase 2 555 62616 5.91 0 Peroxisome;Cytosol;Cytoplasm NA Bifunctional enzyme (PubMed:12574510). The C-terminal domain has epoxide hydrolase activity and acts on epoxides (alkene oxides, oxiranes) and arene oxides (PubMed:12869654, PubMed:12574510, PubMed:22798687). Plays a role in xenobiotic metabolism by degrading potentially toxic epoxides (By similarity). Also determines steady-state levels of physiological mediators (PubMed:12869654, PubMed:12574510, PubMed:22798687). The N-terminal domain has lipid phosphatase activity, with the highest activity towards threo-9,10-phosphonooxy-hydroxy-octadecanoic acid, followed by erythro-9,10-phosphonooxy-hydroxy-octadecanoic acid, 12-phosphonooxy-octadec-9Z-enoic acid and 12-phosphonooxy-octadec-9E-enoic acid (PubMed:12574510). The covalent modification of cysteine by 15-deoxy-Delta12,14-prostaglandin-J2 is autocatalytic and reversible. It may occur as an alternative to other cysteine modifications, such as S-nitrosylation and S-palmitoylation (Probable).;The N-terminus is blocked. Belongs to the AB hydrolase superfamily. Epoxide hydrolase family. Arachidonic acid metabolism;Metabolic pathways;Peroxisome;Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET);Peroxisomal protein import;Biosynthesis of maresins PE1 8 +NX_P34925 Tyrosine-protein kinase RYK 607 67815 6.92 1 Golgi apparatus;Cytoplasm;Membrane;Cytosol;Nucleus NA May be a coreceptor along with FZD8 of Wnt proteins, such as WNT1, WNT3, WNT3A and WNT5A. Involved in neuron differentiation, axon guidance, corpus callosum establishment and neurite outgrowth. In response to WNT3 stimulation, receptor C-terminal cleavage occurs in its transmembrane region and allows the C-terminal intracellular product to translocate from the cytoplasm to the nucleus where it plays a crucial role in neuronal development. Proteolytically cleaved, in part by presenilin, in response to WNT3 stimulation. Cleavage occurs during neuronal differentiation. Belongs to the protein kinase superfamily. Tyr protein kinase family. TCF dependent signaling in response to WNT;PCP/CE pathway PE1 3 +NX_P34931 Heat shock 70 kDa protein 1-like 641 70375 5.76 0 NA NA Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones. The affinity for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. It goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release (PubMed:26865365). Positive regulator of PRKN translocation to damaged mitochondria (PubMed:24270810). NA Belongs to the heat shock protein 70 family. Spliceosome;MAPK signaling pathway;Protein processing in endoplasmic reticulum;Endocytosis;Antigen processing and presentation;Legionellosis;Toxoplasmosis;Measles;Influenza A;Regulation of HSF1-mediated heat shock response;Attenuation phase;HSF1-dependent transactivation;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 6 +NX_P34932 Heat shock 70 kDa protein 4 840 94331 5.11 0 Nucleoplasm;Cytosol;Cytoplasm NA NA NA Belongs to the heat shock protein 70 family. Antigen processing and presentation;Regulation of HSF1-mediated heat shock response PE1 5 +NX_P34947 G protein-coupled receptor kinase 5 590 67787 8.39 0 Cytoplasm;Nucleus speckle;Cell membrane;Nucleus membrane;Nucleus NA Serine/threonine kinase that phosphorylates preferentially the activated forms of a variety of G-protein-coupled receptors (GPCRs). Such receptor phosphorylation initiates beta-arrestin-mediated receptor desensitization, internalization, and signaling events leading to their down-regulation. Phosphorylates a variety of GPCRs, including adrenergic receptors, muscarinic acetylcholine receptors (more specifically Gi-coupled M2/M4 subtypes), dopamine receptors and opioid receptors. In addition to GPCRs, also phosphorylates various substrates: Hsc70-interacting protein/ST13, TP53/p53, HDAC5, and arrestin-1/ARRB1. Phosphorylation of ARRB1 by GRK5 inhibits G-protein independent MAPK1/MAPK3 signaling downstream of 5HT4-receptors. Phosphorylation of HDAC5, a repressor of myocyte enhancer factor 2 (MEF2) leading to nuclear export of HDAC5 and allowing MEF2-mediated transcription. Phosphorylation of TP53/p53, a crucial tumor suppressor, inhibits TP53/p53-mediated apoptosis. Phosphorylation of ST13 regulates internalization of the chemokine receptor. Phosphorylates rhodopsin (RHO) (in vitro) and a non G-protein-coupled receptor, LRP6 during Wnt signaling (in vitro). Autophosphorylated. Autophosphorylation may play a critical role in the regulation of GRK5 kinase activity.;GRK5 is phosphorylated by PRKCA (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily. Chemokine signaling pathway;Endocytosis;G alpha (q) signalling events;G alpha (s) signalling events PE1 10 +NX_P34949 Mannose-6-phosphate isomerase 423 46656 5.62 0 Cytoplasm;Cytosol;Cell membrane Congenital disorder of glycosylation 1B Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. NA Belongs to the mannose-6-phosphate isomerase type 1 family. Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 1/2.;Fructose and mannose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Defective MPI causes MPI-CDG (CDG-1b);Synthesis of GDP-mannose PE1 15 +NX_P34969 5-hydroxytryptamine receptor 7 479 53555 9.09 7 Cytosol;Nucleus speckle;Cell membrane NA This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase. NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Serotonin receptors PE1 10 +NX_P34972 Cannabinoid receptor 2 360 39681 8.52 7 Perikaryon;Dendrite;Cell membrane NA Heterotrimeric G protein-coupled receptor for endocannabinoid 2-arachidonoylglycerol mediating inhibition of adenylate cyclase. May function in inflammatory response, nociceptive transmission and bone homeostasis. Constitutively phosphorylated on Ser-352; phosphorylation increases cell internalization and desensitizes the receptor. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Class A/1 (Rhodopsin-like receptors) PE1 1 +NX_P34981 Thyrotropin-releasing hormone receptor 398 45085 8.62 7 Cell membrane NA Receptor for thyrotropin-releasing hormone. This receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 8 +NX_P34982 Olfactory receptor 1D2 312 35240 9.07 7 Cell membrane NA Odorant receptor which may be involved in sperm chemotaxis. Bourgeonal is a strong chemoattractant for sperm in vitro and is shown to be a strong agonist for OR1D2 in vitro. May also function in olfactory reception. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE1 17 +NX_P34995 Prostaglandin E2 receptor EP1 subtype 402 41801 11.72 7 Cell membrane NA Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues. Phosphorylated. Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;G alpha (q) signalling events;Prostanoid ligand receptors PE2 19 +NX_P34998 Corticotropin-releasing factor receptor 1 444 50719 9.47 7 Endosome;Cell membrane NA G-protein coupled receptor for CRH (corticotropin-releasing factor) and UCN (urocortin). Has high affinity for CRH and UCN. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and down-stream effectors, such as adenylate cyclase. Promotes the activation of adenylate cyclase, leading to increased intracellular cAMP levels. Inhibits the activity of the calcium channel CACNA1H. Required for normal embryonic development of the adrenal gland and for normal hormonal responses to stress. Plays a role in the response to anxiogenic stimuli. C-terminal Ser or Thr residues may be phosphorylated.;Phosphorylation at Ser-330 by PKA prevents maximal coupling to Gq-protein, and thereby negatively regulates downstream signaling. Belongs to the G-protein coupled receptor 2 family. Neuroactive ligand-receptor interaction;Long-term depression;G alpha (s) signalling events;Class B/2 (Secretin family receptors) PE1 17 +NX_P35030 Trypsin-3 304 32529 7.46 0 Secreted NA Digestive protease that cleaves proteins preferentially after an Arg residue and has proteolytic activity toward Kunitz-type trypsin inhibitors. NA Belongs to the peptidase S1 family. Neuroactive ligand-receptor interaction;Pancreatic secretion;Protein digestion and absorption;Influenza A;Alpha-defensins;Cobalamin (Cbl, vitamin B12) transport and metabolism;Neutrophil degranulation;Antimicrobial peptides PE1 9 +NX_P35052 Glypican-1 558 61680 7.07 0 Cytosol;Extracellular space;Endosome;Cell membrane NA Cell surface proteoglycan that bears heparan sulfate. Binds, via the heparan sulfate side chains, alpha-4 (V) collagen and participates in Schwann cell myelination (By similarity). May act as a catalyst in increasing the rate of conversion of prion protein PRPN(C) to PRNP(Sc) via associating (via the heparan sulfate side chains) with both forms of PRPN, targeting them to lipid rafts and facilitating their interaction. Required for proper skeletal muscle differentiation by sequestering FGF2 in lipid rafts preventing its binding to receptors (FGFRs) and inhibiting the FGF-mediated signaling. N- and O-glycosylated. N-glycosylation is mainly of the complex type containing sialic acid. O-glycosylated with heparan sulfate. The heparan sulfate chains can be cleaved either by the action of heparanase or, degraded by a deaminative process that uses nitric oxide (NO) released from the S-nitrosylated cysteines. This process is triggered by ascorbate, or by some other reducing agent, in a Cu(2+)- or Zn(2+) dependent manner. Cu(2+) ions are provided by ceruloproteins such as APP, PRNP or CP which associate with GCP1 in intracellular compartments or lipid rafts.;This cell-associated glypican is further processed to give rise to a medium-released species.;S-nitrosylated in a Cu(2+)-dependent manner. Nitric acid (NO) is released from the nitrosylated cysteines by ascorbate or by some other reducing agent, in a Cu(2+) or Zn(2+) dependent manner. This free nitric oxide is then capable of cleaving the heparan sulfate side chains. Belongs to the glypican family. Retinoid metabolism and transport;HS-GAG biosynthesis;A tetrasaccharide linker sequence is required for GAG synthesis;HS-GAG degradation;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;Defective EXT2 causes exostoses 2;Defective EXT1 causes exostoses 1, TRPS2 and CHDS;Cell surface interactions at the vascular wall;Signaling by ROBO receptors;Defective B3GALT6 causes EDSP2 and SEMDJL1 PE1 2 +NX_P35070 Probetacellulin 178 19746 8.53 1 Cell membrane;Extracellular space NA Growth factor that binds to EGFR, ERBB4 and other EGF receptor family members. Potent mitogen for retinal pigment epithelial cells and vascular smooth muscle cells. NA NA ErbB signaling pathway;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;EGFR downregulation;Signaling by ERBB2;Signaling by ERBB4;SHC1 events in ERBB2 signaling;PI3K events in ERBB4 signaling;SHC1 events in ERBB4 signaling;Nuclear signaling by ERBB4;GRB2 events in ERBB2 signaling;PI3K events in ERBB2 signaling;Signaling by EGFR;GAB1 signalosome;GRB2 events in EGFR signaling;SHC1 events in EGFR signaling;EGFR interacts with phospholipase C-gamma;Inhibition of Signaling by Overexpressed EGFR;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;ERBB2 Regulates Cell Motility;ERBB2 Activates PTK6 Signaling;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Downregulation of ERBB2 signaling;Extra-nuclear estrogen signaling;Estrogen-dependent nuclear events downstream of ESR-membrane signaling PE1 4 +NX_P35080 Profilin-2 140 15046 6.55 0 Cytoskeleton NA Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. NA Belongs to the profilin family. Regulation of actin cytoskeleton;Shigellosis;Salmonella infection;RHO GTPases Activate Formins;Signaling by ROBO receptors PE1 3 +NX_P35125 Ubiquitin carboxyl-terminal hydrolase 6 1406 158658 7.87 0 Cytoplasm;Endosome;Cell membrane NA Deubiquitinase with an ATP-independent isopeptidase activity, cleaving at the C-terminus of the ubiquitin moiety. Catalyzes its own deubiquitination. In vitro, isoform 2, but not isoform 3, shows deubiquitinating activity. Promotes plasma membrane localization of ARF6 and selectively regulates ARF6-dependent endocytic protein trafficking. Is able to initiate tumorigenesis by inducing the production of matrix metalloproteinases following NF-kappa-B activation. Monubiquitinated; ubiquitination is calmodulin and calcium dependent. Belongs to the peptidase C19 family. NA PE1 17 +NX_P35212 Gap junction alpha-4 protein 333 37414 7.5 4 Gap junction;Cell membrane NA One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. NA Belongs to the connexin family. Alpha-type (group II) subfamily. Gap junction assembly PE1 1 +NX_P35218 Carbonic anhydrase 5A, mitochondrial 305 34750 7.18 0 Mitochondrion Hyperammonemia due to carbonic anhydrase VA deficiency Reversible hydration of carbon dioxide. Low activity. NA Belongs to the alpha-carbonic anhydrase family. Nitrogen metabolism;Reversible hydration of carbon dioxide PE1 16 +NX_P35219 Carbonic anhydrase-related protein 290 32973 4.78 0 NA Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Does not have a carbonic anhydrase catalytic activity. NA Belongs to the alpha-carbonic anhydrase family. Nitrogen metabolism PE1 8 +NX_P35221 Catenin alpha-1 906 100071 5.95 0 Adherens junction;Cell junction;Cytoskeleton;Cell membrane Macular dystrophy, patterned, 2 Associates with the cytoplasmic domain of a variety of cadherins. The association of catenins to cadherins produces a complex which is linked to the actin filament network, and which seems to be of primary importance for cadherins cell-adhesion properties. Can associate with both E- and N-cadherins. Originally believed to be a stable component of E-cadherin/catenin adhesion complexes and to mediate the linkage of cadherins to the actin cytoskeleton at adherens junctions. In contrast, cortical actin was found to be much more dynamic than E-cadherin/catenin complexes and CTNNA1 was shown not to bind to F-actin when assembled in the complex suggesting a different linkage between actin and adherens junctions components. The homodimeric form may regulate actin filament assembly and inhibit actin branching by competing with the Arp2/3 complex for binding to actin filaments. May play a crucial role in cell differentiation. Phosphorylation seems to contribute to the strength of cell-cell adhesion rather than to the basic capacity for cell-cell adhesion.;Sumoylated. Belongs to the vinculin/alpha-catenin family. Adherens junction;Tight junction;Leukocyte transendothelial migration;Bacterial invasion of epithelial cells;Pathways in cancer;Endometrial cancer;Arrhythmogenic right ventricular cardiomyopathy (ARVC);VEGFR2 mediated vascular permeability;Adherens junctions interactions;RHO GTPases activate IQGAPs;Myogenesis PE1 5 +NX_P35222 Catenin beta-1 781 85497 5.53 0 Cytoplasm;Cell membrane;Cell junction;Adherens junction;Cilium basal body;Spindle pole;Centrosome;Synapse;Nucleus;Cytoskeleton Medulloblastoma;Neurodevelopmental disorder with spastic diplegia and visual defects;Ovarian cancer;Mesothelioma, malignant;Colorectal cancer;Pilomatrixoma;Vitreoretinopathy, exudative 7 Key downstream component of the canonical Wnt signaling pathway. In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome. In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes. Involved in the regulation of cell adhesion, as component of an E-cadherin:catenin adhesion complex. Acts as a negative regulator of centrosome cohesion. Involved in the CDK2/PTPN6/CTNNB1/CEACAM1 pathway of insulin internalization. Blocks anoikis of malignant kidney and intestinal epithelial cells and promotes their anchorage-independent growth by down-regulating DAPK2. Disrupts PML function and PML-NB formation by inhibiting RANBP2-mediated sumoylation of PML (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22647378, PubMed:22699938, PubMed:22155184). Promotes neurogenesis by maintaining sympathetic neuroblasts within the cell cycle (By similarity). Deacetylated at Lys-49 by SIRT1.;O-glycosylation at Ser-23 decreases nuclear localization and transcriptional activity, and increases localization to the plasma membrane and interaction with E-cadherin CDH1.;Ubiquitinated by the SCF(BTRC) E3 ligase complex when phosphorylated by GSK3B, leading to its degradation. Ubiquitinated by a E3 ubiquitin ligase complex containing UBE2D1, SIAH1, CACYBP/SIP, SKP1, APC and TBL1X, leading to its subsequent proteasomal degradation (By similarity).;Phosphorylation at Ser-552 by AMPK promotes stabilizion of the protein, enhancing TCF/LEF-mediated transcription (By similarity). Phosphorylation by GSK3B requires prior phosphorylation of Ser-45 by another kinase. Phosphorylation proceeds then from Thr-41 to Ser-37 and Ser-33. Phosphorylated by NEK2. EGF stimulates tyrosine phosphorylation. Phosphorylation on Tyr-654 decreases CDH1 binding and enhances TBP binding. Phosphorylated on Ser-33 and Ser-37 by HIPK2 and GSK3B, this phosphorylation triggers proteasomal degradation (PubMed:25169422). Phosphorylation on Ser-191 and Ser-246 by CDK5. Phosphorylation by CDK2 regulates insulin internalization. Phosphorylation by PTK6 at Tyr-64, Tyr-142, Tyr-331 and/or Tyr-333 with the predominant site at Tyr-64 is not essential for inhibition of transcriptional activity.;S-nitrosylation at Cys-619 within adherens junctions promotes VEGF-induced, NO-dependent endothelial cell permeability by disrupting interaction with E-cadherin, thus mediating disassembly adherens junctions.;CTNNB1 is phosphorylated by CHUK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);CTNNB1 is phosphorylated by NEK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);CTNNB1 is phosphorylated by IKBKB (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the beta-catenin family. Wnt signaling pathway;Focal adhesion;Adherens junction;Tight junction;Leukocyte transendothelial migration;Melanogenesis;Bacterial invasion of epithelial cells;Pathogenic Escherichia coli infection;HTLV-I infection;Pathways in cancer;Colorectal cancer;Endometrial cancer;Prostate cancer;Thyroid cancer;Basal cell carcinoma;Arrhythmogenic right ventricular cardiomyopathy (ARVC);Degradation of beta-catenin by the destruction complex;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);VEGFR2 mediated vascular permeability;Formation of the beta-catenin:TCF transactivating complex;TCF dependent signaling in response to WNT;Ca2+ pathway;Apoptotic cleavage of cell adhesion proteins;Deactivation of the beta-catenin transactivating complex;Binding of TCF/LEF:CTNNB1 to target gene promoters;Adherens junctions interactions;Disassembly of the destruction complex and recruitment of AXIN to the membrane;Beta-catenin phosphorylation cascade;Misspliced GSK3beta mutants stabilize beta-catenin;S33 mutants of beta-catenin aren't phosphorylated;S37 mutants of beta-catenin aren't phosphorylated;S45 mutants of beta-catenin aren't phosphorylated;T41 mutants of beta-catenin aren't phosphorylated;RHO GTPases activate IQGAPs;LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production;InlA-mediated entry of Listeria monocytogenes into host cells;RUNX3 regulates WNT signaling;Myogenesis PE1 3 +NX_P35225 Interleukin-13 146 15816 8.69 0 Cytosol;Secreted;Cell membrane Allergic rhinitis Cytokine (PubMed:8096327, PubMed:8097324). Inhibits inflammatory cytokine production (PubMed:8096327). Synergizes with IL2 in regulating interferon-gamma synthesis (PubMed:8096327). May be critical in regulating inflammatory and immune responses (PubMed:8096327, PubMed:8097324). Positively regulates IL31RA expression in macrophages (By similarity). NA Belongs to the IL-4/IL-13 family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Fc epsilon RI signaling pathway;Measles;Asthma;Interleukin-4 and Interleukin-13 signaling;Interleukin-18 signaling PE1 5 +NX_P35226 Polycomb complex protein BMI-1 326 36949 8.9 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:15386022, PubMed:16359901, PubMed:26151332, PubMed:16714294, PubMed:21772249, PubMed:25355358, PubMed:27827373). The complex composed of RNF2, UB2D3 and BMI1 binds nucleosomes, and has activity only with nucleosomal histone H2A (PubMed:21772249, PubMed:25355358). In the PRC1-like complex, regulates the E3 ubiquitin-protein ligase activity of RNF2/RING2 (PubMed:15386022, PubMed:26151332, PubMed:21772249). Monoubiquitinated (By similarity). May be polyubiquitinated; which does not lead to proteasomal degradation.;BMI1 is phosphorylated by MAPKAPK3 NA SUMOylation of DNA damage response and repair proteins;Oxidative Stress Induced Senescence;SUMOylation of RNA binding proteins;SUMOylation of chromatin organization proteins;Transcriptional Regulation by E2F6;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known;Regulation of PTEN gene transcription;SUMOylation of transcription cofactors;SUMOylation of DNA methylation proteins PE1 10 +NX_P35227 Polycomb group RING finger protein 2 344 37788 8.21 0 Nucleoplasm;Nucleus Turnpenny-Fry syndrome Transcriptional repressor. Binds specifically to the DNA sequence 5'-GACTNGACT-3'. Has tumor suppressor activity. May play a role in control of cell proliferation and/or neural cell development. Regulates proliferation of early T progenitor cells by maintaining expression of HES1. Also plays a role in antero-posterior specification of the axial skeleton and negative regulation of the self-renewal activity of hematopoietic stem cells (By similarity). Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:26151332). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332). Phosphorylated. Homodimer formation is regulated by phosphorylation with only unphosphorylated proteins forming homodimers. NA SUMOylation of DNA damage response and repair proteins;SUMOylation of RNA binding proteins;Activation of anterior HOX genes in hindbrain development during early embryogenesis;SUMOylation of chromatin organization proteins;Transcriptional Regulation by E2F6;SUMOylation of transcription cofactors;SUMOylation of DNA methylation proteins PE1 17 +NX_P35228 Nitric oxide synthase, inducible 1153 131117 8.2 0 Cytosol NA Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body (PubMed:7531687, PubMed:7544004). In macrophages, NO mediates tumoricidal and bactericidal actions. Also has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such PTGS2/COX2 (By similarity). As component of the iNOS-S100A8/9 transnitrosylase complex involved in the selective inflammatory stimulus-dependent S-nitrosylation of GAPDH on 'Cys-247' implicated in regulation of the GAIT complex activity and probably multiple targets including ANXA5, EZR, MSN and VIM (PubMed:25417112). Involved in inflammation, enhances the synthesis of proinflammatory mediators such as IL6 and IL8 (PubMed:19688109). Polyubiquitinated; mediated by SPSB1, SPSB2 and SPSB4, leading to proteasomal degradation. Belongs to the NOS family. Arginine and proline metabolism;Metabolic pathways;Calcium signaling pathway;Peroxisome;Salmonella infection;Pertussis;Leishmaniasis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Amoebiasis;Tuberculosis;Pathways in cancer;Small cell lung cancer;ROS and RNS production in phagocytes;Nitric oxide stimulates guanylate cyclase;Interleukin-4 and Interleukin-13 signaling;Peroxisomal protein import PE1 17 +NX_P35232 Prohibitin 272 29804 5.57 0 Cytoplasmic vesicle;Mitochondrion inner membrane;Mitochondrion;Nucleus NA Prohibitin inhibits DNA synthesis. It has a role in regulating proliferation. As yet it is unclear if the protein or the mRNA exhibits this effect. May play a role in regulating mitochondrial respiration activity and in aging. NA Belongs to the prohibitin family. RAF activation;Signaling by moderate kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;Processing of SMDT1 PE1 17 +NX_P35236 Tyrosine-protein phosphatase non-receptor type 7 360 40529 6.33 0 Cytoplasm;Cytoskeleton NA Protein phosphatase that acts preferentially on tyrosine-phosphorylated MAPK1. Plays a role in the regulation of T and B-lymphocyte development and signal transduction. Oxidized at active site cysteine. Treatment with pervanadate (vanadate and H(2)O(2)) or with antigen enhanced oxidation of active site cysteine (By similarity).;Phosphorylated on serine residues in resting T-cells. Phosphorylation increases upon exposure to stimuli that increase intracellular cAMP levels. Phosphorylation leads to dissociation of bound MAP kinases. Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily. MAPK signaling pathway;Interleukin-37 signaling PE1 1 +NX_P35237 Serpin B6 376 42622 5.18 0 Cytoplasm;Centrosome Deafness, autosomal recessive, 91 May be involved in the regulation of serine proteinases present in the brain or extravasated from the blood (By similarity). Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the inner ear in the protection against leakage of lysosomal content during stress and loss of this protection results in cell death and sensorineural hearing loss. NA Belongs to the serpin family. Ov-serpin subfamily. Amoebiasis;Dissolution of Fibrin Clot;Neutrophil degranulation PE1 6 +NX_P35240 Merlin 595 69690 6.11 0 Filopodium membrane;Cell membrane;Cytoplasmic granule;Nucleoplasm;Ruffle membrane;Cytosol;Perinuclear region;Nucleus;Cytoskeleton Mesothelioma, malignant;Neurofibromatosis 2;Schwannomatosis 1 Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. Ubiquitinated by the CUL4A-RBX1-DDB1-DCAF1/VprBP E3 ubiquitin-protein ligase complex for ubiquitination and subsequent proteasome-dependent degradation.;Phosphorylation of Ser-518 inhibits nuclear localization by disrupting the intramolecular association of the FERM domain with the C-terminal tail (PubMed:20178741). The dephosphorylation of Ser-518 favors the interaction with NOP53 (PubMed:21167305). NA Regulation of actin dynamics for phagocytic cup formation;RHO GTPases activate PAKs PE1 22 +NX_P35241 Radixin 583 68564 6.03 0 Cytoplasm;Cleavage furrow;Cell membrane;Nucleoplasm;Microvillus;Cytoskeleton Deafness, autosomal recessive, 24 Probably plays a crucial role in the binding of the barbed end of actin filaments to the plasma membrane. Phosphorylated by tyrosine-protein kinases. Phosphorylation by ROCK2 suppresses the head-to-tail association of the N-terminal and C-terminal halves resulting in an opened conformation which is capable of actin and membrane-binding (By similarity). NA Regulation of actin cytoskeleton;Recycling pathway of L1 PE1 11 +NX_P35243 Recoverin 200 23130 5.06 0 Photoreceptor inner segment;Photoreceptor outer segment;Perikaryon;Photoreceptor outer segment membrane NA Acts as a calcium sensor and regulates phototransduction of cone and rod photoreceptor cells (By similarity). Modulates light sensitivity of cone photoreceptor in dark and dim conditions (By similarity). In response to high Ca(2+) levels induced by low light levels, prolongs RHO/rhodopsin activation in rod photoreceptor cells by binding to and inhibiting GRK1-mediated phosphorylation of RHO/rhodopsin (By similarity). Plays a role in scotopic vision/enhances vision in dim light by enhancing signal transfer between rod photoreceptors and rod bipolar cells (By similarity). Improves rod photoreceptor sensitivity in dim light and mediates response of rod photoreceptors to facilitate detection of change and motion in bright light (By similarity). Oxidation on Cys-39 occurs in response to prolonged intense illumination and results in the formation of disulfide homodimers, and to a lesser extent disulfide-linked heterodimers.;The N-terminal glycine is linked to one of four different types of acyl groups. The most abundant is myristoleate (14:1), but 14:0, 14:2, and 12:0 acyl residues are also present (By similarity). The Ca(2+) induced exposure of the myristoyl group, known as the calcium-myristoyl switch, promotes RCVRN binding to the photoreceptor cell membranes only when intracellular Ca(2+) concentration is high (By similarity). Belongs to the recoverin family. Phototransduction;Inactivation, recovery and regulation of the phototransduction cascade PE1 17 +NX_P35244 Replication protein A 14 kDa subunit 121 13569 4.96 0 Nucleus NA As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism. Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage (PubMed:9430682). In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruitment of ATRIP activates the ATR kinase a master regulator of the DNA damage response (PubMed:24332808). It is required for the recruitment of the DNA double-strand break repair factors RAD51 and RAD52 to chromatin, in response to DNA damage. Also recruits to sites of DNA damage proteins like XPA and XPG that are involved in nucleotide excision repair and is required for this mechanism of DNA repair (PubMed:7697716). Plays also a role in base excision repair (BER), probably through interaction with UNG (PubMed:9765279). Also recruits SMARCAL1/HARP, which is involved in replication fork restart, to sites of DNA damage. May also play a role in telomere maintenance. RPA3 has its own single-stranded DNA-binding activity and may be responsible for polarity of the binding of the complex to DNA (PubMed:19010961). As part of the alternative replication protein A complex, aRPA, binds single-stranded DNA and probably plays a role in DNA repair. Compared to the RPA2-containing, canonical RPA complex, may not support chromosomal DNA replication and cell cycle progression through S-phase. The aRPA may not promote efficient priming by DNA polymerase alpha but could support DNA synthesis by polymerase delta in presence of PCNA and replication factor C (RFC), the dual incision/excision reaction of nucleotide excision repair and RAD51-dependent strand exchange (PubMed:19996105). Ubiquitinated by RFWD3 at stalled replication forks in response to DNA damage: ubiquitination by RFWD3 does not lead to degradation by the proteasome and promotes removal of the RPA complex from stalled replication forks, promoting homologous recombination (PubMed:26474068). NA DNA replication;Nucleotide excision repair;Mismatch repair;Homologous recombination;Fanconi anemia pathway;Regulation of HSF1-mediated heat shock response;Translesion Synthesis by POLH;Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha);Meiotic recombination;Activation of ATR in response to replication stress;Activation of the pre-replicative complex;G2/M DNA damage checkpoint;HSF1 activation;Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta);Translesion synthesis by POLI;Termination of translesion DNA synthesis;Translesion synthesis by REV1;Translesion synthesis by POLK;PCNA-Dependent Long Patch Base Excision Repair;Recognition of DNA damage by PCNA-containing replication complex;Removal of the Flap Intermediate from the C-strand;Removal of the Flap Intermediate;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER;Fanconi Anemia Pathway;Regulation of TP53 Activity through Phosphorylation PE1 7 +NX_P35247 Pulmonary surfactant-associated protein D 375 37728 6.25 0 Surface film;Extracellular matrix NA Contributes to the lung's defense against inhaled microorganisms, organic antigens and toxins. Interacts with compounds such as bacterial lipopolysaccharides, oligosaccharides and fatty acids and modulates leukocyte action in immune response. May participate in the extracellular reorganization or turnover of pulmonary surfactant. Binds strongly maltose residues and to a lesser extent other alpha-glucosyl moieties. The N-terminus is blocked.;Hydroxylation on proline residues within the sequence motif, GXPG, is most likely to be 4-hydroxy as this fits the requirement for 4-hydroxylation in vertebrates.;S-nitrosylation at Cys-35 and Cys-40 alters the quaternary structure which results in a pro-inflammatory chemoattractive signaling activity with macrophages. Belongs to the SFTPD family. Phagosome;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Toll Like Receptor 4 (TLR4) Cascade;Toll Like Receptor TLR1:TLR2 Cascade;Signal regulatory protein family interactions;Surfactant metabolism;Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5);Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4);Regulation of TLR by endogenous ligand PE1 10 +NX_P35249 Replication factor C subunit 4 363 39682 8.26 0 Nucleoplasm;Nucleus NA The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. This subunit may be involved in the elongation of the multiprimed DNA template. NA Belongs to the activator 1 small subunits family. DNA replication;Nucleotide excision repair;Mismatch repair;Translesion Synthesis by POLH;Activation of ATR in response to replication stress;G2/M DNA damage checkpoint;Translesion synthesis by POLI;Termination of translesion DNA synthesis;Translesion synthesis by REV1;Translesion synthesis by POLK;PCNA-Dependent Long Patch Base Excision Repair;Recognition of DNA damage by PCNA-containing replication complex;Polymerase switching on the C-strand of the telomere;Polymerase switching;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER;Regulation of TP53 Activity through Phosphorylation PE1 3 +NX_P35250 Replication factor C subunit 2 354 39157 6.04 0 Golgi apparatus;Nucleoplasm;Nucleus NA The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. This subunit binds ATP (By similarity). NA Belongs to the activator 1 small subunits family. DNA replication;Nucleotide excision repair;Mismatch repair;Translesion Synthesis by POLH;Activation of ATR in response to replication stress;G2/M DNA damage checkpoint;Translesion synthesis by POLI;Termination of translesion DNA synthesis;Translesion synthesis by REV1;Translesion synthesis by POLK;PCNA-Dependent Long Patch Base Excision Repair;Recognition of DNA damage by PCNA-containing replication complex;Polymerase switching on the C-strand of the telomere;Polymerase switching;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER;Regulation of TP53 Activity through Phosphorylation PE1 7 +NX_P35251 Replication factor C subunit 1 1148 128255 9.38 0 Nucleoplasm;Nucleolus;Nucleus Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins PCNA and activator 1. This subunit binds to the primer-template junction. Binds the PO-B transcription element as well as other GA rich DNA sequences. Could play a role in DNA transcription regulation as well as DNA replication and/or repair. Can bind single- or double-stranded DNA.;Interacts with C-terminus of PCNA. 5' phosphate residue is required for binding of the N-terminal DNA-binding domain to duplex DNA, suggesting a role in recognition of non-primer template DNA structures during replication and/or repair. NA Belongs to the activator 1 large subunit family. DNA replication;Nucleotide excision repair;Mismatch repair;Translesion Synthesis by POLH;Translesion synthesis by POLI;Termination of translesion DNA synthesis;Translesion synthesis by REV1;Translesion synthesis by POLK;PCNA-Dependent Long Patch Base Excision Repair;Recognition of DNA damage by PCNA-containing replication complex;Polymerase switching on the C-strand of the telomere;Polymerase switching;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Homologous Recombination (HRR);Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER PE1 4 +NX_P35268 60S ribosomal protein L22 128 14787 9.21 0 Cytoplasm;Nucleolus NA NA NA Belongs to the eukaryotic ribosomal protein eL22 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 1 +NX_P35269 General transcription factor IIF subunit 1 517 58240 7.04 0 Nucleoplasm;Cell junction;Nucleus NA TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the initiation complex in collaboration with TFIIB. It promotes transcription elongation. Phosphorylated on Ser and other residues by TAF1 and casein kinase II-like kinases. Belongs to the TFIIF alpha subunit family. Basal transcription factors;Viral Messenger RNA Synthesis;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;Processing of Capped Intron-Containing Pre-mRNA;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;FGFR2 alternative splicing;RNA polymerase II transcribes snRNA genes;Signaling by FGFR2 IIIa TM;TP53 Regulates Transcription of DNA Repair Genes;Estrogen-dependent gene expression PE1 19 +NX_P35270 Sepiapterin reductase 261 28048 8.25 0 Nucleoplasm;Cytoplasm;Cytosol Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin. In vitro phosphorylation of Ser-213 by CaMK2 does not change kinetic parameters. Belongs to the sepiapterin reductase family. Folate biosynthesis;Metabolic pathways;eNOS activation;Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation PE1 2 +NX_P35318 ADM 185 20420 10.84 0 Secreted NA AM and PAMP are potent hypotensive and vasodilatator agents. Numerous actions have been reported most related to the physiologic control of fluid and electrolyte homeostasis. In the kidney, am is diuretic and natriuretic, and both am and pamp inhibit aldosterone secretion by direct adrenal actions. In pituitary gland, both peptides at physiologically relevant doses inhibit basal ACTH secretion. Both peptides appear to act in brain and pituitary gland to facilitate the loss of plasma volume, actions which complement their hypotensive effects in blood vessels. NA Belongs to the adrenomedullin family. G alpha (s) signalling events;Calcitonin-like ligand receptors PE1 11 +NX_P35321 Cornifin-A 89 9877 8.85 0 Cytoplasm NA Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane. NA Belongs to the cornifin (SPRR) family. Formation of the cornified envelope PE1 1 +NX_P35325 Small proline-rich protein 2B 72 7975 8.81 0 Cytoplasm NA Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane. NA Belongs to the cornifin (SPRR) family. Formation of the cornified envelope PE2 1 +NX_P35326 Small proline-rich protein 2A 72 7965 8.81 0 Cytoplasm NA Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane. NA Belongs to the cornifin (SPRR) family. Formation of the cornified envelope PE1 1 +NX_P35346 Somatostatin receptor type 5 364 39202 9.58 7 Cell membrane NA Receptor for somatostatin 28 and to a lesser extent for somatostatin-14. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase. Increases cell growth inhibition activity of SSTR2 following heterodimerization. Palmitoylated by ZDHHC5, but not ZDHHC3, nor ZDHHC8. Palmitoylation creates an additional intracellular loop which is thought to be important for efficient coupling to G-proteins and may target the protein to lipid rafts. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors PE1 16 +NX_P35348 Alpha-1A adrenergic receptor 466 51487 9.26 7 Cytoplasm;Caveola;Nucleus membrane;Cell membrane NA This alpha-adrenergic receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Its effect is mediated by G(q) and G(11) proteins. Nuclear ADRA1A-ADRA1B heterooligomers regulate phenylephrine(PE)-stimulated ERK signaling in cardiac myocytes. C-terminal Ser or Thr residues may be phosphorylated. Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRA1A sub-subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Vascular smooth muscle contraction;Salivary secretion;G alpha (q) signalling events;G alpha (12/13) signalling events;Adrenoceptors PE1 8 +NX_P35354 Prostaglandin G/H synthase 2 604 68996 7.02 0 Microsome membrane;Endoplasmic reticulum;Endoplasmic reticulum membrane NA Converts arachidonate to prostaglandin H2 (PGH2), a committed step in prostanoid synthesis (PubMed:26859324, PubMed:27226593). Constitutively expressed in some tissues in physiological conditions, such as the endothelium, kidney and brain, and in pathological conditions, such as in cancer. PTGS2 is responsible for production of inflammatory prostaglandins. Up-regulation of PTGS2 is also associated with increased cell adhesion, phenotypic changes, resistance to apoptosis and tumor angiogenesis. In cancer cells, PTGS2 is a key step in the production of prostaglandin E2 (PGE2), which plays important roles in modulating motility, proliferation and resistance to apoptosis. During neuroinflammation, plays a role in neuronal secretion of specialized preresolving mediators (SPMs), especially 15-R-lipoxin A4, that regulates phagocytic microglia (By similarity). S-nitrosylation by NOS2 (iNOS) activates enzyme activity. S-nitrosylation may take place on different Cys residues in addition to Cys-526.;Acetylated at Ser-565 by SPHK1. During neuroinflammation, acetylation by SPHK1 promotes neuronal secretion of specialized preresolving mediators (SPMs), especially 15-R-lipoxin A4, which results in an increase of phagocytic microglia. Belongs to the prostaglandin G/H synthase family. Lipid metabolism; prostaglandin biosynthesis.;Arachidonic acid metabolism;Metabolic pathways;VEGF signaling pathway;Leishmaniasis;Pathways in cancer;Small cell lung cancer;Synthesis of Prostaglandins (PG) and Thromboxanes (TX);Nicotinamide salvaging;Synthesis of 15-eicosatetraenoic acid derivatives;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling;Biosynthesis of DHA-derived SPMs;Biosynthesis of EPA-derived SPMs;Biosynthesis of DPAn-3 SPMs;Biosynthesis of electrophilic Omega-3 PUFA oxo-derivatives PE1 1 +NX_P35367 Histamine H1 receptor 487 55784 9.33 7 Cytosol;Cell membrane NA In peripheral tissues, the H1 subclass of histamine receptors mediates the contraction of smooth muscles, increase in capillary permeability due to contraction of terminal venules, and catecholamine release from adrenal medulla, as well as mediating neurotransmission in the central nervous system. Phosphorylation at sites in the second and third cytoplasmic loops independently contribute to agonist-induced receptor downregulation. Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;G alpha (q) signalling events;Histamine receptors PE1 3 +NX_P35368 Alpha-1B adrenergic receptor 520 56836 9.53 7 Cytoplasm;Caveola;Nucleus membrane;Cell membrane NA This alpha-adrenergic receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Its effect is mediated by G(q) and G(11) proteins. Nuclear ADRA1A-ADRA1B heterooligomers regulate phenylephrine (PE)-stimulated ERK signaling in cardiac myocytes. NA Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRA1B sub-subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Vascular smooth muscle contraction;Salivary secretion;G alpha (q) signalling events;G alpha (12/13) signalling events;Adrenoceptors PE1 5 +NX_P35372 Mu-type opioid receptor 400 44779 8.62 7 Cytoplasm;Cell membrane;Perikaryon;Endosome;Axon;Dendrite NA Do not bind agonists but may act through oligomerization with binding-competent OPRM1 isoforms and reduce their ligand binding activity (PubMed:16580639).;Receptor for endogenous opioids such as beta-endorphin and endomorphin. Receptor for natural and synthetic opioids including morphine, heroin, DAMGO, fentanyl, etorphine, buprenorphin and methadone (PubMed:7905839, PubMed:7957926, PubMed:7891175, PubMed:12589820, PubMed:9689128). Agonist binding to the receptor induces coupling to an inactive GDP-bound heterotrimeric G-protein complex and subsequent exchange of GDP for GTP in the G-protein alpha subunit leading to dissociation of the G-protein complex with the free GTP-bound G-protein alpha and the G-protein beta-gamma dimer activating downstream cellular effectors (PubMed:7905839). The agonist- and cell type-specific activity is predominantly coupled to pertussis toxin-sensitive G(i) and G(o) G alpha proteins, GNAI1, GNAI2, GNAI3 and GNAO1 isoforms Alpha-1 and Alpha-2, and to a lesser extent to pertussis toxin-insensitive G alpha proteins GNAZ and GNA15 (PubMed:12068084). They mediate an array of downstream cellular responses, including inhibition of adenylate cyclase activity and both N-type and L-type calcium channels, activation of inward rectifying potassium channels, mitogen-activated protein kinase (MAPK), phospholipase C (PLC), phosphoinositide/protein kinase (PKC), phosphoinositide 3-kinase (PI3K) and regulation of NF-kappa-B. Also couples to adenylate cyclase stimulatory G alpha proteins. The selective temporal coupling to G-proteins and subsequent signaling can be regulated by RGSZ proteins, such as RGS9, RGS17 and RGS4. Phosphorylation by members of the GPRK subfamily of Ser/Thr protein kinases and association with beta-arrestins is involved in short-term receptor desensitization. Beta-arrestins associate with the GPRK-phosphorylated receptor and uncouple it from the G-protein thus terminating signal transduction. The phosphorylated receptor is internalized through endocytosis via clathrin-coated pits which involves beta-arrestins. The activation of the ERK pathway occurs either in a G-protein-dependent or a beta-arrestin-dependent manner and is regulated by agonist-specific receptor phosphorylation. Acts as a class A G-protein coupled receptor (GPCR) which dissociates from beta-arrestin at or near the plasma membrane and undergoes rapid recycling. Receptor down-regulation pathways are varying with the agonist and occur dependent or independent of G-protein coupling. Endogenous ligands induce rapid desensitization, endocytosis and recycling whereas morphine induces only low desensitization and endocytosis. Heterooligomerization with other GPCRs can modulate agonist binding, signaling and trafficking properties. Involved in neurogenesis.;Couples to GNAS and is proposed to be involved in excitatory effects (PubMed:20525224). Ubiquitinated. A basal ubiquitination seems not to be related to degradation. Ubiquitination is increased upon formation of OPRM1:OPRD1 oligomers leading to proteasomal degradation; the ubiquitination is diminished by RTP4.;Phosphorylated. Differentially phosphorylated in basal and agonist-induced conditions. Agonist-mediated phosphorylation modulates receptor internalization. Phosphorylated by GRK2 in a agonist-dependent manner. Phosphorylation at Tyr-168 requires receptor activation, is dependent on non-receptor protein tyrosine kinase Src and results in a decrease in agonist efficacy by reducing G-protein coupling efficiency. Phosphorylated on tyrosine residues; the phosphorylation is involved in agonist-induced G-protein-independent receptor down-regulation. Phosphorylation at Ser-377 is involved in G-protein-dependent but not beta-arrestin-dependent activation of the ERK pathway (By similarity). Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors;G-protein activation;Opioid Signalling;Interleukin-4 and Interleukin-13 signaling;MECP2 regulates neuronal receptors and channels PE1 6 +NX_P35398 Nuclear receptor ROR-alpha 523 58975 6.3 0 Nucleus Intellectual developmental disorder with or without epilepsy or cerebellar ataxia Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Key regulator of embryonic development, cellular differentiation, immunity, circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism. Considered to have intrinsic transcriptional activity, have some natural ligands like oxysterols that act as agonists (25-hydroxycholesterol) or inverse agonists (7-oxygenated sterols), enhancing or repressing the transcriptional activity, respectively. Recruits distinct combinations of cofactors to target genes regulatory regions to modulate their transcriptional expression, depending on the tissue, time and promoter contexts. Regulates genes involved in photoreceptor development including OPN1SW, OPN1SM and ARR3 and skeletal muscle development with MYOD1. Required for proper cerebellum development (PubMed:29656859). Regulates SHH gene expression, among others, to induce granule cells proliferation as well as expression of genes involved in calcium-mediated signal transduction. Regulates the circadian expression of several clock genes, including CLOCK, ARNTL/BMAL1, NPAS2 and CRY1. Competes with NR1D1 for binding to their shared DNA response element on some clock genes such as ARNTL/BMAL1, CRY1 and NR1D1 itself, resulting in NR1D1-mediated repression or RORA-mediated activation of clock genes expression, leading to the circadian pattern of clock genes expression. Therefore influences the period length and stability of the clock. Regulates genes involved in lipid metabolism such as apolipoproteins APOA1, APOA5, APOC3 and PPARG. In liver, has specific and redundant functions with RORC as positive or negative modulator of expression of genes encoding phase I and phase II proteins involved in the metabolism of lipids, steroids and xenobiotics, such as CYP7B1 and SULT2A1. Induces a rhythmic expression of some of these genes. In addition, interplays functionally with NR1H2 and NR1H3 for the regulation of genes involved in cholesterol metabolism. Also involved in the regulation of hepatic glucose metabolism through the modulation of G6PC and PCK1. In adipose tissue, plays a role as negative regulator of adipocyte differentiation, probably acting through dual mechanisms. May suppress CEBPB-dependent adipogenesis through direct interaction and PPARG-dependent adipogenesis through competition for DNA-binding. Downstream of IL6 and TGFB and synergistically with RORC isoform 2, is implicated in the lineage specification of uncommitted CD4(+) T-helper (T(H)) cells into T(H)17 cells, antagonizing the T(H)1 program. Probably regulates IL17 and IL17F expression on T(H) by binding to the essential enhancer conserved non-coding sequence 2 (CNS2) in the IL17-IL17F locus. Involved in hypoxia signaling by interacting with and activating the transcriptional activity of HIF1A. May inhibit cell growth in response to cellular stress. May exert an anti-inflammatory role by inducing CHUK expression and inhibiting NF-kappa-B signaling. Phosphorylation by conventional PKCs in neurons inhibits transcriptional activity. Phosphorylated on Thr-183 by MAPK1/ERK1 in vitro.;Monomethylated at Lys-38 by EZH2, this creates a degron recognized by a DCX (DDB1-DCAF1/VPRBP-CUL4A-RBX1) E3 ubiquitin ligase complex.;Sumoylated by SENP1 and SENP2. Sumoylation, promoted by PIAS2, PIAS3, PIAS4 but not PIAS1, enhances the transcriptional activity. Desumoylated by SENP1.;Ubiquitinated, leading to its degradation by the proteasome. Proteasomal degradation is required for efficient transcriptional activity and is prevented by HR. Belongs to the nuclear hormone receptor family. NR1 subfamily. Circadian rhythm - mammal;PPARA activates gene expression;RORA activates gene expression;Circadian Clock;Nuclear Receptor transcription pathway;Interleukin-4 and Interleukin-13 signaling;SUMOylation of intracellular receptors PE1 15 +NX_P35408 Prostaglandin E2 receptor EP4 subtype 488 53119 9.08 7 Cell membrane NA Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. Has a relaxing effect on smooth muscle. May play an important role in regulating renal hemodynamics, intestinal epithelial transport, adrenal aldosterone secretion, and uterine function. Phosphorylation mediates agonist-mediated desensitization by promoting cytoplasmic retention. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Prostanoid ligand receptors PE1 5 +NX_P35410 Mas-related G-protein coupled receptor MRG 378 42411 8.71 7 Nucleoplasm;Cytosol;Cell membrane NA NA NA Belongs to the G-protein coupled receptor 1 family. Mas subfamily. NA PE2 6 +NX_P35414 Apelin receptor 380 42660 7.46 7 Cell membrane NA Receptor for apelin receptor early endogenous ligand (APELA) and apelin (APLN) hormones coupled to G proteins that inhibit adenylate cyclase activity (PubMed:11090199, PubMed:25639753, PubMed:28137936). Plays a key role in early development such as gastrulation, blood vessels formation and heart morphogenesis by acting as a receptor for APELA hormone (By similarity). May promote angioblast migration toward the embryonic midline, i.e. The position of the future vessel formation, during vasculogenesis (By similarity). Promotes sinus venosus (SV)-derived endothelial cells migration into the developing heart to promote coronary blood vessel development (By similarity). Plays also a role in various processes in adults such as regulation of blood vessel formation, blood pressure, heart contractility and heart failure (PubMed:25639753, PubMed:28137936).;(Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection; may be involved in the development of AIDS dementia (PubMed:11090199). NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors PE1 11 +NX_P35442 Thrombospondin-2 1172 129991 4.62 0 Cytosol;Nucleus speckle;Cell membrane Intervertebral disc disease Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Ligand for CD36 mediating antiangiogenic properties. NA Belongs to the thrombospondin family. Phagosome;TGF-beta signaling pathway;Focal adhesion;ECM-receptor interaction;Malaria;O-glycosylation of TSR domain-containing proteins;Signaling by PDGF;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 6 +NX_P35443 Thrombospondin-4 961 105869 4.44 0 Extracellular matrix;Secreted;Sarcoplasmic reticulum;Endoplasmic reticulum;Extracellular space;Cytoplasmic vesicle NA Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions and is involved in various processes including cellular proliferation, migration, adhesion and attachment, inflammatory response to CNS injury, regulation of vascular inflammation and adaptive responses of the heart to pressure overload and in myocardial function and remodeling. Binds to structural extracellular matrix (ECM) proteins and modulates the ECM in response to tissue damage, contributing to cardioprotective and adaptive ECM remodeling. Plays a role in ER stress response, via its interaction with the activating transcription factor 6 alpha (ATF6) which produces adaptive ER stress response factors and protects myocardium from pressure overload. May contribute to spinal presynaptic hypersensitivity and neuropathic pain states after peripheral nerve injury. May play a role in regulating protective astrogenesis from the subventricular zone (SVZ) niche after injury in a NOTCH1-dependent manner (By similarity). NA Belongs to the thrombospondin family. Phagosome;TGF-beta signaling pathway;Focal adhesion;ECM-receptor interaction;Malaria;Signaling by PDGF PE1 5 +NX_P35452 Homeobox protein Hox-D12 270 29031 9.82 0 Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Abd-B homeobox family. NA PE1 2 +NX_P35453 Homeobox protein Hox-D13 343 36101 9.5 0 Nucleoplasm;Nucleus Brachydactyly E1;Brachydactyly D;Syndactyly 5;Brachydactyly-syndactyly syndrome;Brachydactyly-syndactyly-oligodactyly syndrome;VACTERL association;Synpolydactyly 1 Sequence-specific transcription factor that binds gene promoters and activates their transcription (PubMed:24789103). Part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis (By similarity). NA Belongs to the Abd-B homeobox family. NA PE1 2 +NX_P35462 D(3) dopamine receptor 400 44225 9.2 7 Cell membrane Tremor, hereditary essential 1;Schizophrenia Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase. Promotes cell proliferation. Phosphorylated by GRK4 (GRK4-alpha and GRK4-gamma).;Palmitoylated. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Dopaminergic synapse;G alpha (i) signalling events;Dopamine receptors PE1 3 +NX_P35475 Alpha-L-iduronidase 653 72670 9.25 0 Cytoplasmic vesicle;Lysosome Mucopolysaccharidosis 1H/S;Mucopolysaccharidosis 1H;Mucopolysaccharidosis 1S NA N-glycosylation at Asn-372 contributes to substrate binding and is required for full enzymatic activity. Belongs to the glycosyl hydrolase 39 family. Glycosaminoglycan degradation;Metabolic pathways;Lysosome;HS-GAG degradation;CS/DS degradation;MPS I - Hurler syndrome PE1 4 +NX_P35498 Sodium channel protein type 1 subunit alpha 2009 228972 5.6 24 Nucleoplasm;Nucleus;Cell membrane Generalized epilepsy with febrile seizures plus 2;Migraine, familial hemiplegic, 3;Febrile seizures, familial, 3A;Epileptic encephalopathy, early infantile, 6;Intractable childhood epilepsy with generalized tonic-clonic seizures Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain: activation in somatosensory neurons induces pain without neurogenic inflammation and produces hypersensitivity to mechanical, but not thermal stimuli. Phosphorylation at Ser-1516 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.1/SCN1A subfamily. Dopaminergic synapse;Interaction between L1 and Ankyrins;Phase 0 - rapid depolarisation PE1 2 +NX_P35499 Sodium channel protein type 4 subunit alpha 1836 208061 4.99 24 Nucleoplasm;Centriolar satellite;Cell membrane Periodic paralysis hyperkalemic;Paramyotonia congenita of von Eulenburg;Myotonia SCN4A-related;Periodic paralysis normokalemic;Myasthenic syndrome, congenital, 16;Periodic paralysis hypokalemic 2 Pore-forming subunit of a voltage-gated sodium channel complex through which Na(+) ions pass in accordance with their electrochemical gradient. Alternates between resting, activated and inactivated states (PubMed:12766226, PubMed:29992740, PubMed:30190309, PubMed:15318338, PubMed:16890191, PubMed:18690054, PubMed:17898326, PubMed:19347921, PubMed:25707578, PubMed:26700687). Required for normal muscle fiber excitability, normal muscle contraction and relaxation cycles, and constant muscle strength in the presence of fluctuating K(+) levels (PubMed:12766226, PubMed:15318338, PubMed:16890191, PubMed:19347921, PubMed:25707578, PubMed:26700687, PubMed:26659129). Phosphorylation at Ser-1328 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.4/SCN4A subfamily. Interaction between L1 and Ankyrins;Phase 0 - rapid depolarisation PE1 17 +NX_P35503 UDP-glucuronosyltransferase 1-3 534 60338 8.41 1 Endoplasmic reticulum membrane;Microsome NA UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds.;Lacks transferase activity but acts as a negative regulator of isoform 1. NA Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Glucuronidation PE1 2 +NX_P35504 UDP-glucuronosyltransferase 1-5 534 60071 8.24 1 Endoplasmic reticulum membrane;Microsome NA Lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity).;UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. NA Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Glucuronidation PE2 2 +NX_P35520 Cystathionine beta-synthase 551 60587 6.2 0 Cytoplasmic vesicle;Nucleus;Cytoplasm;Nucleolus Cystathionine beta-synthase deficiency Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:23981774, PubMed:20506325, PubMed:23974653). Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (By similarity). NA Belongs to the cysteine synthase/cystathionine beta-synthase family. Amino-acid biosynthesis; L-cysteine biosynthesis; L-cysteine from L-homocysteine and L-serine: step 1/2.;Glycine, serine and threonine metabolism;Cysteine and methionine metabolism;Metabolic pathways;Cysteine formation from homocysteine;Metabolism of ingested SeMet, Sec, MeSec into H2Se PE1 21 +NX_P35523 Chloride channel protein 1 988 108626 5.68 10 Cell membrane Myotonia congenita, autosomal dominant;Myotonia congenita, autosomal recessive Voltage-gated chloride channel (PubMed:8112288, PubMed:9122265, PubMed:12456816). Plays an important role in membrane repolarization in skeletal muscle cells after muscle contraction. NA Belongs to the chloride channel (TC 2.A.49) family. ClC-1/CLCN1 subfamily. Stimuli-sensing channels PE1 7 +NX_P35527 Keratin, type I cytoskeletal 9 623 62064 5.14 0 NA Keratoderma, palmoplantar, epidermolytic May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly. NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_P35542 Serum amyloid A-4 protein 130 14747 9.17 0 Secreted NA Major acute phase reactant. Apolipoprotein of the HDL complex. NA Belongs to the SAA family. NA PE1 11 +NX_P35544 Ubiquitin-like protein FUBI 74 7760 4.31 0 NA NA NA NA Belongs to the ubiquitin family. Ribosome PE1 11 +NX_P35548 Homeobox protein MSX-2 267 28897 9.68 0 Nucleus speckle;Nucleus Craniosynostosis 2;Parietal foramina with cleidocranial dysplasia;Parietal foramina 1 Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter. NA Belongs to the Msh homeobox family. HTLV-I infection;Regulation of RUNX2 expression and activity PE1 5 +NX_P35555 Fibrillin-1 2871 312298 4.81 0 Cytosol;Extracellular matrix;Secreted Geleophysic dysplasia 2;Overlap connective tissue disease;Marfan syndrome;Acromicric dysplasia;Stiff skin syndrome;Weill-Marchesani syndrome 2;Marfanoid-progeroid-lipodystrophy syndrome;Ectopia lentis 1, isolated, autosomal dominant Fibrillin-1: Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:1860873, PubMed:15062093). Fibrillin-1-containing microfibrils provide long-term force bearing structural support. In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin. In addition, microfibrils can occur as elastin-independent networks in tissues such as the ciliary zonule, tendon, cornea and glomerulus where they provide tensile strength and have anchoring roles. Fibrillin-1 also plays a key role in tissue homeostasis through specific interactions with growth factors, such as the bone morphogenetic proteins (BMPs), growth and differentiation factors (GDFs) and latent transforming growth factor-beta-binding proteins (LTBPs), cell-surface integrins and other extracellular matrix protein and proteoglycan components (PubMed:27026396). Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity). Negatively regulates osteoclastogenesis by binding and sequestering an osteoclast differentiation and activation factor TNFSF11. This leads to disruption of TNFSF11-induced Ca(2+) signaling and impairment of TNFSF11-mediated nuclear translocation and activation of transcription factor NFATC1 which regulates genes important for osteoclast differentiation and function (PubMed:24039232). Mediates cell adhesion via its binding to cell surface receptors integrins ITGAV:ITGB3 and ITGA5:ITGB1 (PubMed:12807887, PubMed:17158881). Binds heparin and this interaction has an important role in the assembly of microfibrils (PubMed:11461921).;Asprosin: Hormone that targets the liver to increase plasma glucose levels. Secreted by white adipose tissue and circulates in the plasma. Acts in response to fasting and promotes blood glucose elevation by binding to the surface of hepatocytes. Promotes hepatocyte glucose release by activating the protein kinase A activity in the liver, resulting in rapid glucose release into the circulation. Fibrillin-1: Cleavage of N- and C-terminus by furin is required for incorporation into the extracellular matrix and assembly into microfibrils (PubMed:27026396). The C-terminus, which corresponds to the Asprosin chain, was initially thought to constitute a propeptide (PubMed:24982166). Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequently separated by furin, an essential step for incorporation of Fibrillin-1 into the nascent microfibrils (PubMed:24982166).;Fibrillin-1: Forms intermolecular disulfide bonds either with other fibrillin-1 molecules or with other components of the microfibrils. Belongs to the fibrillin family. Degradation of the extracellular matrix;Integrin cell surface interactions;Molecules associated with elastic fibres;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Elastic fibre formation;Post-translational protein phosphorylation PE1 15 +NX_P35556 Fibrillin-2 2912 314775 4.73 0 Nucleoplasm;Cytosol;Extracellular matrix Macular degeneration, early-onset;Contractural arachnodactyly, congenital Fibrillin-2: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively. NA Belongs to the fibrillin family. Degradation of the extracellular matrix;Molecules associated with elastic fibres;Elastic fibre formation PE1 5 +NX_P35557 Hexokinase-4 465 52191 5.1 0 Golgi apparatus;Cytoplasm;Mitochondrion;Cytosol;Nucleus Diabetes mellitus, non-insulin-dependent;Familial hyperinsulinemic hypoglycemia 3;Maturity-onset diabetes of the young 2;Diabetes mellitus, permanent neonatal Catalyzes the phosphorylation of hexose, such as D-glucose, D-fructose and D-mannose, to hexose 6-phosphate (D-glucose 6-phosphate, D-fructose 6-phosphate and D-mannose 6-phosphate, respectively) (PubMed:7742312, PubMed:11916951, PubMed:15277402, PubMed:17082186, PubMed:18322640, PubMed:19146401, PubMed:25015100, PubMed:8325892). Compared to other hexokinases, has a weak affinity for D-glucose, and is effective only when glucose is abundant (By similarity). Mainly expressed in pancreatic beta cells and the liver and constitutes a rate-limiting step in glucose metabolism in these tissues (PubMed:18322640, PubMed:25015100, PubMed:8325892, PubMed:11916951, PubMed:15277402). Since insulin secretion parallels glucose metabolism and the low glucose affinity of GCK ensures that it can change its enzymatic activity within the physiological range of glucose concentrations, GCK acts as a glucose sensor in the pancreatic beta cell (By similarity). In pancreas, plays an important role in modulating insulin secretion (By similarity). In liver, helps to facilitate the uptake and conversion of glucose by acting as an insulin-sensitive determinant of hepatic glucose usage (By similarity). Required to provide D-glucose 6-phosphate for the synthesis of glycogen (PubMed:8878425). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (PubMed:7742312). NA Belongs to the hexokinase family. Carbohydrate metabolism; hexose metabolism.;Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 1/4.;Glycolysis / Gluconeogenesis;Galactose metabolism;Starch and sucrose metabolism;Amino sugar and nucleotide sugar metabolism;Butirosin and neomycin biosynthesis;Metabolic pathways;Insulin signaling pathway;Type II diabetes mellitus;Maturity onset diabetes of the young;Regulation of Glucokinase by Glucokinase Regulatory Protein;Glycolysis;Regulation of gene expression in beta cells;Defective GCK causes maturity-onset diabetes of the young 2 (MODY2);Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 7 +NX_P35558 Phosphoenolpyruvate carboxykinase, cytosolic [GTP] 622 69195 5.8 0 Cytoplasm Phosphoenolpyruvate carboxykinase deficiency, cytosolic Regulates cataplerosis and anaplerosis, the processes that control the levels of metabolic intermediates in the citric acid cycle. At low glucose levels, it catalyzes the cataplerotic conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle. At high glucose levels, it catalyzes the anaplerotic conversion of phosphoenolpyruvate to oxaloacetate. Ubiquitination by UBR5 leads to proteasomal degradation.;Acetylated. Lysine acetylation by p300/EP300 is increased on high glucose conditions (PubMed:20167786, PubMed:21726808, PubMed:30193097). Lysine acetylation promotes ubiquitination by UBR5 (PubMed:21726808). Acetylation is enhanced in the presence of BAG6. Deacetylated by SIRT2. Deacetylation of Lys-91 is carried out by SIRT1 and depends on PCK1 phosphorylation levels (PubMed:30193097).;Phosphorylated in a GSK3B-mediated pathway; phosphorylation affects the efficiency of SIRT1-mediated deacetylation, and regulates PCK1 ubiquitination and degradation. Belongs to the phosphoenolpyruvate carboxykinase [GTP] family. Carbohydrate biosynthesis; gluconeogenesis.;Glycolysis / Gluconeogenesis;Citrate cycle (TCA cycle);Pyruvate metabolism;Metabolic pathways;PPAR signaling pathway;Insulin signaling pathway;Adipocytokine signaling pathway;Proximal tubule bicarbonate reclamation;Gluconeogenesis;Transcriptional regulation of white adipocyte differentiation;Abacavir metabolism;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 20 +NX_P35568 Insulin receptor substrate 1 1242 131591 8.83 0 Nucleoplasm;Cytosol;Cell membrane Diabetes mellitus, non-insulin-dependent May mediate the control of various cellular processes by insulin. When phosphorylated by the insulin receptor binds specifically to various cellular proteins containing SH2 domains such as phosphatidylinositol 3-kinase p85 subunit or GRB2. Activates phosphatidylinositol 3-kinase when bound to the regulatory p85 subunit (By similarity). Serine phosphorylation of IRS1 is a mechanism for insulin resistance. Ser-312 phosphorylation inhibits insulin action through disruption of IRS1 interaction with the insulin receptor (By similarity). Phosphorylation of Tyr-896 is required for GRB2-binding (By similarity). Phosphorylated by ALK. Phosphorylated at Ser-270, Ser-307, Ser-636 and Ser-1101 by RPS6KB1; phosphorylation induces accelerated degradation of IRS1. Phosphorylated on tyrosine residues in response to insulin (By similarity).;Ubiquitinated by the Cul7-RING(FBXW8) complex in a mTOR-dependent manner, leading to its degradation: the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previously phosphorylated by S6 kinase (RPS6KB1 or RPS6KB2).;IRS1 is phosphorylated by JAK1 (Phosphotyrosine:PTM-0255);IRS1 is phosphorylated by JAK2 (Phosphotyrosine:PTM-0255);IRS1 is phosphorylated by ALK (Phosphotyrosine:PTM-0255);IRS1 is phosphorylated by IGF1R (Phosphotyrosine:PTM-0255);IRS1 is phosphorylated by PTK2 (Phosphotyrosine:PTM-0255);IRS1 is phosphorylated by INSRR (Phosphotyrosine:PTM-0255);IRS1 is phosphorylated by RPS6KB2 NA Neurotrophin signaling pathway;Insulin signaling pathway;Adipocytokine signaling pathway;Type II diabetes mellitus;Aldosterone-regulated sodium reabsorption;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Interleukin-7 signaling;Growth hormone receptor signaling;IRS activation;Signal attenuation;IRS-related events triggered by IGF1R;Signaling by Leptin;SOS-mediated signalling;PI3K/AKT activation;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;IRS-mediated signalling;Activated NTRK3 signals through PI3K PE1 2 +NX_P35573 Glycogen debranching enzyme 1532 174764 6.31 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol Glycogen storage disease 3 Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation. The N-terminus is blocked.;Ubiquitinated. Belongs to the glycogen debranching enzyme family. Starch and sucrose metabolism;Metabolic pathways;Glycogen breakdown (glycogenolysis);Neutrophil degranulation PE1 1 +NX_P35575 Glucose-6-phosphatase 357 40484 8.72 9 Endoplasmic reticulum membrane Glycogen storage disease 1A Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels. NA Belongs to the glucose-6-phosphatase family. Carbohydrate biosynthesis; gluconeogenesis.;Glycolysis / Gluconeogenesis;Galactose metabolism;Starch and sucrose metabolism;Metabolic pathways;Insulin signaling pathway;Adipocytokine signaling pathway;Carbohydrate digestion and absorption;Gluconeogenesis;Glycogen storage disease type Ia (G6PC);FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 17 +NX_P35579 Myosin-9 1960 226532 5.5 0 Cytosol;Cell cortex;Cytoskeleton;Cell membrane Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss;Deafness, autosomal dominant, 17 Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10. Ubiquitination.;ISGylated. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Tight junction;Regulation of actin cytoskeleton;Salmonella infection;Viral myocarditis;Regulation of actin dynamics for phagocytic cup formation;Translocation of SLC2A4 (GLUT4) to the plasma membrane;EPHA-mediated growth cone collapse;RHO GTPases activate PKNs;Sema4D induced cell migration and growth-cone collapse;RHO GTPases activate CIT;RHO GTPases activate PAKs;RHO GTPases Activate ROCKs PE1 22 +NX_P35580 Myosin-10 1976 228999 5.44 0 Cytosol;Lamellipodium;Mitochondrion;Cytoskeleton NA Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Involved with LARP6 in the stabilization of type I collagen mRNAs for CO1A1 and CO1A2. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the central part but not the margins of spreading cells), and lamellipodial extension; this function is mechanically antagonized by MYH9. Phosphorylated by ABL2.;MYH10 is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255);MYH10 is phosphorylated by ABL2 (Phosphotyrosine:PTM-0255);MYH10 is phosphorylated by PRKCG (Phosphoserine:PTM-0253) Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Tight junction;Regulation of actin cytoskeleton;Salmonella infection;Viral myocarditis;EPHA-mediated growth cone collapse;RHO GTPases activate PKNs;Sema4D induced cell migration and growth-cone collapse;RHO GTPases activate CIT;RHO GTPases activate PAKs;RHO GTPases Activate ROCKs PE1 17 +NX_P35590 Tyrosine-protein kinase receptor Tie-1 1138 125090 6.63 1 Cell membrane NA Transmembrane tyrosine-protein kinase that may modulate TEK/TIE2 activity and contribute to the regulation of angiogenesis. Phosphorylated on tyrosine residues in response to ANGPT1, most likely by TEK/TIE2.;TIE1 is phosphorylated by TEK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. Tie subfamily. NA PE1 1 +NX_P35606 Coatomer subunit beta' 906 102487 5.15 0 Golgi apparatus;Cytoplasm;COPI-coated vesicle membrane;Golgi apparatus membrane;Cytosol Microcephaly 19, primary, autosomal recessive This coatomer complex protein, essential for Golgi budding and vesicular trafficking, is a selective binding protein (RACK) for protein kinase C, epsilon type. It binds to Golgi membranes in a GTP-dependent manner (By similarity).;The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity). NA Belongs to the WD repeat COPB2 family. COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 3 +NX_P35609 Alpha-actinin-2 894 103854 5.31 0 Z line Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction;Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. Ubiquitinated by FBXL22, leading to proteasomal degradation. Belongs to the alpha-actinin family. Focal adhesion;Adherens junction;Tight junction;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Amoebiasis;Systemic lupus erythematosus;Arrhythmogenic right ventricular cardiomyopathy (ARVC);RAF/MAP kinase cascade;Unblocking of NMDA receptors, glutamate binding and activation;Ras activation upon Ca2+ influx through NMDA receptor;Platelet degranulation;Striated Muscle Contraction;Nephrin family interactions;Assembly and cell surface presentation of NMDA receptors;Negative regulation of NMDA receptor-mediated neuronal transmission;Long-term potentiation PE1 1 +NX_P35610 Sterol O-acyltransferase 1 550 64735 9.08 5 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Catalyzes the formation of fatty acid-cholesterol esters, which are less soluble in membranes than cholesterol. Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase. NA Belongs to the membrane-bound acyltransferase family. Sterol o-acyltransferase subfamily. Steroid biosynthesis;LDL clearance PE1 1 +NX_P35611 Alpha-adducin 737 80955 5.6 0 Nucleoplasm;Cell membrane;Cytoskeleton NA Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to calmodulin. ADD1 is phosphorylated by MAPK8 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the aldolase class II family. Adducin subfamily. XBP1(S) activates chaperone genes;Caspase-mediated cleavage of cytoskeletal proteins;Miscellaneous transport and binding events PE1 4 +NX_P35612 Beta-adducin 726 80854 5.67 0 Nucleoplasm;Cytosol;Cytoskeleton;Cell membrane NA Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to the erythrocyte membrane receptor SLC2A1/GLUT1 and may therefore provide a link between the spectrin cytoskeleton to the plasma membrane. Binds to calmodulin. Calmodulin binds preferentially to the beta subunit. The N-terminus is blocked. Belongs to the aldolase class II family. Adducin subfamily. Miscellaneous transport and binding events PE1 2 +NX_P35613 Basigin 385 42200 5.39 1 Cytoplasmic vesicle;Melanosome;Cell membrane NA Plays an important role in targeting the monocarboxylate transporters SLC16A1, SLC16A3, SLC16A8, SLC16A11 and SLC16A12 to the plasma membrane (PubMed:21778275). Plays pivotal roles in spermatogenesis, embryo implantation, neural network formation and tumor progression. Stimulates adjacent fibroblasts to produce matrix metalloproteinases (MMPS). Seems to be a receptor for oligomannosidic glycans. In vitro, promotes outgrowth of astrocytic processes. N-glycosylated. NA Degradation of the extracellular matrix;Pyruvate metabolism;Integrin cell surface interactions;Basigin interactions;Proton-coupled monocarboxylate transport;Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) PE1 19 +NX_P35625 Metalloproteinase inhibitor 3 211 24145 9 0 Extracellular matrix Sorsby fundus dystrophy Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. May form part of a tissue-specific acute response to remodeling stimuli. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-9, MMP-13, MMP-14 and MMP-15. NA Belongs to the protease inhibitor I35 (TIMP) family. Platelet degranulation PE1 22 +NX_P35626 Beta-adrenergic receptor kinase 2 688 79710 7.55 0 Nucleoplasm;Cell membrane NA Specifically phosphorylates the agonist-occupied form of the beta-adrenergic and closely related receptors. Ubiquitinated. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily. Chemokine signaling pathway;Endocytosis;Glutamatergic synapse;Olfactory transduction;G alpha (s) signalling events;Cargo recognition for clathrin-mediated endocytosis PE1 22 +NX_P35637 RNA-binding protein FUS 526 53426 9.4 0 Nucleoplasm;Nucleus Tremor, hereditary essential 4;Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia;Angiomatoid fibrous histiocytoma DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response (PubMed:27731383). Binds to nascent pre-mRNAs and acts as a molecular mediator between RNA polymerase II and U1 small nuclear ribonucleoprotein thereby coupling transcription and splicing (PubMed:26124092). Binds also its own pre-mRNA and autoregulates its expression; this autoregulation mechanism is mediated by non-sense-mediated decay (PubMed:24204307). Plays a role in DNA repair mechanisms by promoting D-loop formation and homologous recombination during DNA double-strand break repair (PubMed:10567410). In neuronal cells, plays crucial roles in dendritic spine formation and stability, RNA transport, mRNA stability and synaptic homeostasis (By similarity). Arg-216 and Arg-218 are dimethylated, probably to asymmetric dimethylarginine.;Phosphorylated in its N-terminal serine residues upon induced DNA damage. ATM and DNA-PK are able to phosphorylate FUS N-terminal region. Belongs to the RRM TET family. mRNA Splicing - Major Pathway PE1 16 +NX_P35638 DNA damage-inducible transcript 3 protein 169 19175 4.61 0 Nucleoplasm;Cytoplasm;Nucleus Myxoid liposarcoma Multifunctional transcription factor in ER stress response. Plays an essential role in the response to a wide variety of cell stresses and induces cell cycle arrest and apoptosis in response to ER stress. Plays a dual role both as an inhibitor of CCAAT/enhancer-binding protein (C/EBP) function and as an activator of other genes. Acts as a dominant-negative regulator of C/EBP-induced transcription: dimerizes with members of the C/EBP family, impairs their association with C/EBP binding sites in the promoter regions, and inhibits the expression of C/EBP regulated genes. Positively regulates the transcription of TRIB3, IL6, IL8, IL23, TNFRSF10B/DR5, PPP1R15A/GADD34, BBC3/PUMA, BCL2L11/BIM and ERO1L. Negatively regulates; expression of BCL2 and MYOD1, ATF4-dependent transcriptional activation of asparagine synthetase (ASNS), CEBPA-dependent transcriptional activation of hepcidin (HAMP) and CEBPB-mediated expression of peroxisome proliferator-activated receptor gamma (PPARG). Inhibits the canonical Wnt signaling pathway by binding to TCF7L2/TCF4, impairing its DNA-binding properties and repressing its transcriptional activity. Plays a regulatory role in the inflammatory response through the induction of caspase-11 (CASP4/CASP11) which induces the activation of caspase-1 (CASP1) and both these caspases increase the activation of pro-IL1B to mature IL1B which is involved in the inflammatory response. Ubiquitinated, leading to its degradation by the proteasome.;Phosphorylation at serine residues by MAPK14 enhances its transcriptional activation activity while phosphorylation at serine residues by CK2 inhibits its transcriptional activation activity. Belongs to the bZIP family. MAPK signaling pathway;Protein processing in endoplasmic reticulum;ATF4 activates genes in response to endoplasmic reticulum stress;ATF6 (ATF6-alpha) activates chaperone genes;FOXO-mediated transcription of cell death genes PE1 12 +NX_P35658 Nuclear pore complex protein Nup214 2090 213620 7.15 0 Cytoplasmic vesicle;Nucleoplasm;Focal adhesion;Nuclear pore complex NA May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex. Probably glycosylated as it reacts with wheat germ agglutinin (WGA). NA RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;HuR (ELAVL1) binds and stabilizes mRNA;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 9 +NX_P35659 Protein DEK 375 42674 8.69 0 Nucleoplasm;Nucleus NA Involved in chromatin organization. Phosphorylated by CK2. Phosphorylation fluctuates during the cell cycle with a moderate peak during G(1) phase, and weakens the binding of DEK to DNA. NA B-WICH complex positively regulates rRNA expression;Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors;Transcriptional regulation of granulopoiesis PE1 6 +NX_P35663 Cylicin-1 651 74242 9.68 0 Calyx NA Possible architectural role during spermatogenesis. May be involved in spermatid differentiation. NA NA NA PE1 X +NX_P35670 Copper-transporting ATPase 2 1465 157263 6.25 8 Cytoplasm;Golgi apparatus;Mitochondrion;trans-Golgi network membrane;Late endosome;Golgi apparatus membrane Wilson disease Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload. May be proteolytically cleaved at the N-terminus to produce the WND/140 kDa form. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily. Ion transport by P-type ATPases PE1 13 +NX_P35680 Hepatocyte nuclear factor 1-beta 557 61324 7.39 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle Prostate cancer, hereditary, 11;Diabetes mellitus, non-insulin-dependent;Renal cysts and diabetes syndrome Transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. NA Belongs to the HNF1 homeobox family. Maturity onset diabetes of the young;Regulation of gene expression in early pancreatic precursor cells;Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells PE1 17 +NX_P35711 Transcription factor SOX-5 763 84026 6.15 0 Nucleoplasm;Nucleus Lamb-Shaffer syndrome Binds specifically to the DNA sequence 5'-AACAAT-3'. Activates transcription of COL2A1 and AGC1 in vitro. NA NA NA PE1 12 +NX_P35712 Transcription factor SOX-6 828 91921 7.65 0 Nucleoplasm;Nucleus NA Transcriptional activator. Binds specifically to the DNA sequence 5'-AACAAT-3'. Plays a key role in several developmental processes, including neurogenesis and skeleton formation. Sumoylation inhibits the transcriptional activity. NA Deactivation of the beta-catenin transactivating complex PE1 11 +NX_P35713 Transcription factor SOX-18 384 40891 8.16 0 Nucleoplasm;Nucleus Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome;Hypotrichosis-lymphedema-telangiectasia syndrome Transcriptional activator that binds to the consensus sequence 5'-AACAAAG-3' in the promoter of target genes and plays an essential role in embryonic cardiovascular development and lymphangiogenesis. Activates transcription of PROX1 and other genes coding for lymphatic endothelial markers. Plays an essential role in triggering the differentiation of lymph vessels, but is not required for the maintenance of differentiated lymphatic endothelial cells. Plays an important role in postnatal angiogenesis, where it is functionally redundant with SOX17. Interaction with MEF2C enhances transcriptional activation. Besides, required for normal hair development. NA NA NA PE1 20 +NX_P35716 Transcription factor SOX-11 441 46679 4.91 0 Nucleoplasm;Nucleus Mental retardation, autosomal dominant 27 Transcriptional factor involved in the embryonic neurogenesis. May also have a role in tissue modeling during development. NA NA NA PE1 2 +NX_P35749 Myosin-11 1972 227339 5.42 0 Cytosol;Melanosome;Cell membrane Aortic aneurysm, familial thoracic 4 Muscle contraction. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Vascular smooth muscle contraction;Tight junction;Viral myocarditis;EPHA-mediated growth cone collapse;Smooth Muscle Contraction;RHO GTPases activate PKNs;Sema4D induced cell migration and growth-cone collapse;RHO GTPases activate CIT;RHO GTPases activate PAKs;RHO GTPases Activate ROCKs PE1 16 +NX_P35754 Glutaredoxin-1 106 11776 8.33 0 Cytoplasm;Cytosol;Cell membrane NA Has a glutathione-disulfide oxidoreductase activity in the presence of NADPH and glutathione reductase. Reduces low molecular weight disulfides and proteins. NA Belongs to the glutaredoxin family. Interconversion of nucleotide di- and triphosphates PE1 5 +NX_P35789 Zinc finger protein 93 620 70971 9.4 0 Nucleus NA Transcription factor specifically required to repress long interspersed nuclear element 1 (L1) retrotransposons: recognizes and binds L1 sequences and repress their expression by recruiting a repressive complex containing TRIM28/KAP1 (PubMed:25274305). Not able to repress expression of all subtypes of L1 elements. Binds to the 5' end of L1PA4, L1PA5 and L1PA6 subtypes, and some L1PA3 subtypes. Does not bind to L1PA7 or older subtypes nor at the most recently evolved L1PA2 and L1Hs. 50% of L1PA3 elements have lost the ZNF93-binding site, explaining why ZNF93 is not able to repress their expression (PubMed:25274305). NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_P35790 Choline kinase alpha 457 52249 6.16 0 Endoplasmic reticulum;Cytoplasm NA Has a key role in phospholipid biosynthesis and may contribute to tumor cell growth. Catalyzes the first step in phosphatidylcholine biosynthesis. Contributes to phosphatidylethanolamine biosynthesis. Phosphorylates choline and ethanolamine. Has higher activity with choline. NA Belongs to the choline/ethanolamine kinase family. Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphocholine from choline: step 1/1.;Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 1/3.;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PC;Synthesis of PE PE1 11 +NX_P35813 Protein phosphatase 1A 382 42448 5.19 0 Membrane;Cytosol;Nucleus;Cell membrane NA Enzyme with a broad specificity. Negatively regulates TGF-beta signaling through dephosphorylating SMAD2 and SMAD3, resulting in their dissociation from SMAD4, nuclear export of the SMADs and termination of the TGF-beta-mediated signaling. Dephosphorylates PRKAA1 and PRKAA2. Plays an important role in the termination of TNF-alpha-mediated NF-kappa-B activation through dephosphorylating and inactivating IKBKB/IKKB. N-myristoylation is essential for the recognition of its substrates for dephosphorylation. Belongs to the PP2C family. MAPK signaling pathway;Downregulation of SMAD2/3:SMAD4 transcriptional activity;Energy dependent regulation of mTOR by LKB1-AMPK PE1 14 +NX_P35858 Insulin-like growth factor-binding protein complex acid labile subunit 605 66035 6.33 0 Extracellular space Acid-labile subunit deficiency Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion. NA NA Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) PE1 16 +NX_P35869 Aryl hydrocarbon receptor 848 96147 5.94 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Retinitis pigmentosa 85 Ligand-activated transcriptional activator. Binds to the XRE promoter region of genes it activates (PubMed:10395741, PubMed:28602820, PubMed:7961644, PubMed:23275542, PubMed:30373764). Activates the expression of multiple phase I and II xenobiotic chemical metabolizing enzyme genes (such as the CYP1A1 gene) (PubMed:7961644). Mediates biochemical and toxic effects of halogenated aromatic hydrocarbons (PubMed:7961644). Involved in cell-cycle regulation (PubMed:12213388). Likely to play an important role in the development and maturation of many tissues (PubMed:12213388). Regulates the circadian clock by inhibiting the basal and circadian expression of the core circadian component PER1 (PubMed:28602820). Inhibits PER1 by repressing the CLOCK-ARNTL/BMAL1 heterodimer mediated transcriptional activation of PER1. The heterodimer ARNT:AHR binds to core DNA sequence 5'-TGCGTG-3' within the dioxin response element (DRE) of target gene promoters and activates their transcription (PubMed:28602820). Mono-ADP-ribosylated, leading to inhibit transcription activator activity of AHR. NA Xenobiotics;PPARA activates gene expression;Endogenous sterols;Phase I - Functionalization of compounds;Aryl hydrocarbon receptor signalling PE1 7 +NX_P35900 Keratin, type I cytoskeletal 20 424 48487 5.52 0 Cytoplasm;Cytosol NA Plays a significant role in maintaining keratin filament organization in intestinal epithelia. When phosphorylated, plays a role in the secretion of mucin in the small intestine (By similarity). Hyperphosphorylation at Ser-13 occurs during the early stages of apoptosis but becomes less prominent during the later stages. Phosphorylation at Ser-13 also increases in response to stress brought on by cell injury (By similarity).;Proteolytically cleaved by caspases during apoptosis. Cleavage occurs at Asp-228. Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_P35908 Keratin, type II cytoskeletal 2 epidermal 639 65433 8.07 0 Golgi apparatus;Cytosol;Cytoskeleton Ichthyosis bullosa of Siemens Probably contributes to terminal cornification (PubMed:1380918). Associated with keratinocyte activation, proliferation and keratinization (PubMed:12598329). Plays a role in the establishment of the epidermal barrier on plantar skin (By similarity). NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_P35913 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta 854 98336 5.11 0 Membrane;Cytosol Retinitis pigmentosa 40;Night blindness, congenital stationary, autosomal dominant 2 This protein participates in processes of transmission and amplification of the visual signal. Necessary for the formation of a functional phosphodiesterase holoenzyme. NA Belongs to the cyclic nucleotide phosphodiesterase family. Purine metabolism;Phototransduction;Activation of the phototransduction cascade;Inactivation, recovery and regulation of the phototransduction cascade;Ca2+ pathway PE1 4 +NX_P35914 Hydroxymethylglutaryl-CoA lyase, mitochondrial 325 34360 8.81 0 Peroxisome;Mitochondrion matrix 3-hydroxy-3-methylglutaryl-CoA lyase deficiency Mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis. Terminal step in leucine catabolism. Ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism. NA Belongs to the HMG-CoA lyase family. Metabolic intermediate metabolism; (S)-3-hydroxy-3-methylglutaryl-CoA degradation; acetoacetate from (S)-3-hydroxy-3-methylglutaryl-CoA: step 1/1.;Synthesis and degradation of ketone bodies;Valine, leucine and isoleucine degradation;Butanoate metabolism;Metabolic pathways;Peroxisome;Synthesis of Ketone Bodies;Peroxisomal protein import PE1 1 +NX_P35916 Vascular endothelial growth factor receptor 3 1363 152757 5.9 1 Cytoplasm;Cell membrane;Cell junction;Secreted;Nucleoplasm;Nucleus Lymphatic malformation 1;Hemangioma, capillary infantile Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFC and VEGFD, and plays an essential role in adult lymphangiogenesis and in the development of the vascular network and the cardiovascular system during embryonic development. Promotes proliferation, survival and migration of endothelial cells, and regulates angiogenic sprouting. Signaling by activated FLT4 leads to enhanced production of VEGFC, and to a lesser degree VEGFA, thereby creating a positive feedback loop that enhances FLT4 signaling. Modulates KDR signaling by forming heterodimers. The secreted isoform 3 may function as a decoy receptor for VEGFC and/or VEGFD and play an important role as a negative regulator of VEGFC-mediated lymphangiogenesis and angiogenesis. Binding of vascular growth factors to isoform 1 or isoform 2 leads to the activation of several signaling cascades; isoform 2 seems to be less efficient in signal transduction, because it has a truncated C-terminus and therefore lacks several phosphorylation sites. Mediates activation of the MAPK1/ERK2, MAPK3/ERK1 signaling pathway, of MAPK8 and the JUN signaling pathway, and of the AKT1 signaling pathway. Phosphorylates SHC1. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Promotes phosphorylation of MAPK8 at 'Thr-183' and 'Tyr-185', and of AKT1 at 'Ser-473'. Autophosphorylated on tyrosine residues upon ligand binding. Autophosphorylation occurs in trans, i.e. One subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation in response to H(2)O(2) is mediated by a process that requires SRC and PRKCD activity. Phosphorylation at Tyr-1068 is required for autophosphorylation at additional tyrosine residues. Phosphorylation at Tyr-1063 and Tyr-1337 is important for interaction with CRK and subsequent activation of MAPK8. Phosphorylation at Tyr-1230, Tyr-1231 and Tyr-1337 is important for interaction with GRB2 and subsequent activation of the AKT1 and MAPK1/ERK2 and/or MAPK3/ERK1 signaling pathways. In response to endothelial cell adhesion onto collagen, can also be phosphorylated in the absence of FLT4 kinase activity by SRC at Tyr-830, Tyr-833, Tyr-853, Tyr-1063, Tyr-1333, and Tyr-1337.;Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. Cytokine-cytokine receptor interaction;Focal adhesion;VEGF binds to VEGFR leading to receptor dimerization;NOTCH4 Intracellular Domain Regulates Transcription PE1 5 +NX_P35968 Vascular endothelial growth factor receptor 2 1356 151527 5.6 1 Cytoplasm;Cell membrane;Early endosome;Cell junction;Secreted;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleus Hemangioma, capillary infantile Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD. Plays an essential role in the regulation of angiogenesis, vascular development, vascular permeability, and embryonic hematopoiesis. Promotes proliferation, survival, migration and differentiation of endothelial cells. Promotes reorganization of the actin cytoskeleton. Isoforms lacking a transmembrane domain, such as isoform 2 and isoform 3, may function as decoy receptors for VEGFA, VEGFC and/or VEGFD.;Plays an important role as negative regulator of VEGFA- and VEGFC-mediated lymphangiogenesis by limiting the amount of free VEGFA and/or VEGFC and preventing their binding to FLT4. Modulates FLT1 and FLT4 signaling by forming heterodimers. Binding of vascular growth factors to isoform 1 leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate and the activation of protein kinase C. Mediates activation of MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, reorganization of the actin cytoskeleton and activation of PTK2/FAK1. Required for VEGFA-mediated induction of NOS2 and NOS3, leading to the production of the signaling molecule nitric oxide (NO) by endothelial cells. Phosphorylates PLCG1. Promotes phosphorylation of FYN, NCK1, NOS3, PIK3R1, PTK2/FAK1 and SRC. N-glycosylated.;The inhibitory disulfide bond between Cys-1024 and Cys-1045 may serve as a specific molecular switch for H(2)S-induced modification that regulates VEGFR2 function.;Autophosphorylated on tyrosine residues upon ligand binding. Autophosphorylation occurs in trans, i.e. One subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-951 is important for interaction with SH2D2A/TSAD and VEGFA-mediated reorganization of the actin cytoskeleton. Phosphorylation at Tyr-1175 is important for interaction with PLCG1 and SHB. Phosphorylation at Tyr-1214 is important for interaction with NCK1 and FYN. Dephosphorylated by PTPRB. Dephosphorylated by PTPRJ at Tyr-951, Tyr-996, Tyr-1054, Tyr-1059, Tyr-1175 and Tyr-1214.;Ubiquitinated. Tyrosine phosphorylation of the receptor promotes its poly-ubiquitination, leading to its degradation via the proteasome or lysosomal proteases.;KDR is phosphorylated by FLT1 (Phosphotyrosine:PTM-0255);Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. Cytokine-cytokine receptor interaction;Endocytosis;VEGF signaling pathway;Focal adhesion;VEGFA-VEGFR2 Pathway;Integrin cell surface interactions;VEGFR2 mediated cell proliferation;Neurophilin interactions with VEGF and VEGFR;VEGF binds to VEGFR leading to receptor dimerization PE1 4 +NX_P35998 26S proteasome regulatory subunit 7 433 48634 5.71 0 Cytoplasm;Cytosol NA Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC2 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides. NA Belongs to the AAA ATPase family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neutrophil degranulation;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 7 +NX_P36021 Monocarboxylate transporter 8 539 59511 5.43 12 Cell membrane Monocarboxylate transporter 8 deficiency Very active and specific thyroid hormone transporter. Stimulates cellular uptake of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine. Does not transport Leu, Phe, Trp or Tyr. NA Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. Transport of organic anions PE1 X +NX_P36222 Chitinase-3-like protein 1 383 42625 8.69 0 Golgi apparatus;Cytoplasm;Endoplasmic reticulum;Extracellular space;Perinuclear region Asthma-related traits 7;Schizophrenia Carbohydrate-binding lectin with a preference for chitin. Has no chitinase activity. May play a role in tissue remodeling and in the capacity of cells to respond to and cope with changes in their environment. Plays a role in T-helper cell type 2 (Th2) inflammatory response and IL-13-induced inflammation, regulating allergen sensitization, inflammatory cell apoptosis, dendritic cell accumulation and M2 macrophage differentiation. Facilitates invasion of pathogenic enteric bacteria into colonic mucosa and lymphoid organs. Mediates activation of AKT1 signaling pathway and subsequent IL8 production in colonic epithelial cells. Regulates antibacterial responses in lung by contributing to macrophage bacterial killing, controlling bacterial dissemination and augmenting host tolerance. Also regulates hyperoxia-induced injury, inflammation and epithelial apoptosis in lung. Glycosylated. Belongs to the glycosyl hydrolase 18 family. Amino sugar and nucleotide sugar metabolism;Neutrophil degranulation PE1 1 +NX_P36268 Inactive glutathione hydrolase 2 569 61771 7.22 0 Endoplasmic reticulum;Perinuclear region NA Lack catalytic activity due to its inability to undergo the autocatalytic cleavage needed to produce a mature, enzymatically active heterodimer. Not cleaved by autocatalysis into a large and a small subunit resulting in loss of cell membrane localization and catalytic activity. Belongs to the gamma-glutamyltransferase family. NA PE1 22 +NX_P36269 Glutathione hydrolase 5 proenzyme 586 62261 7.24 1 Membrane;Nucleolus NA Cleaves the gamma-glutamyl peptide bond of glutathione conjugates, but maybe not glutathione itself. Converts leukotriene C4 (LTC4) to leukotriene D4 (LTD4). Cleaved by autocatalysis into a large and a small subunit. Belongs to the gamma-glutamyltransferase family. Sulfur metabolism; glutathione metabolism.;Lipid metabolism; leukotriene D4 biosynthesis.;Taurine and hypotaurine metabolism;Cyanoamino acid metabolism;Glutathione metabolism;Arachidonic acid metabolism;Metabolic pathways;Aflatoxin activation and detoxification;Glutathione synthesis and recycling;Synthesis of Leukotrienes (LT) and Eoxins (EX) PE1 22 +NX_P36382 Gap junction alpha-5 protein 358 40380 8.81 4 Gap junction;Cell membrane Atrial standstill 1;Atrial fibrillation, familial, 11 One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. NA Belongs to the connexin family. Alpha-type (group II) subfamily. Gap junction assembly PE1 1 +NX_P36383 Gap junction gamma-1 protein 396 45470 6.9 4 Cell membrane;Cell junction;Gap junction;Nucleolus;Cytosol NA One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. NA Belongs to the connexin family. Gamma-type subfamily. Electric Transmission Across Gap Junctions;Gap junction assembly PE1 17 +NX_P36402 Transcription factor 7 384 41642 6.32 0 Nucleoplasm;Nucleus NA Transcriptional activator involved in T-cell lymphocyte differentiation. Necessary for the survival of CD4(+) CD8(+) immature thymocytes. Isoforms lacking the N-terminal CTNNB1 binding domain cannot fulfill this role. Binds to the T-lymphocyte-specific enhancer element (5'-WWCAAAG-3') found in the promoter of the CD3E gene. May also act as feedback transcriptional repressor of CTNNB1 and TCF7L2 target genes. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7 and CTNNB1. NA Belongs to the TCF/LEF family. Wnt signaling pathway;Adherens junction;Melanogenesis;Pathways in cancer;Colorectal cancer;Endometrial cancer;Prostate cancer;Thyroid cancer;Basal cell carcinoma;Acute myeloid leukemia;Arrhythmogenic right ventricular cardiomyopathy (ARVC);Formation of the beta-catenin:TCF transactivating complex;Ca2+ pathway;Deactivation of the beta-catenin transactivating complex;Binding of TCF/LEF:CTNNB1 to target gene promoters;Repression of WNT target genes;RUNX3 regulates WNT signaling PE1 5 +NX_P36404 ADP-ribosylation factor-like protein 2 184 20878 5.95 0 Golgi apparatus;Cytoplasm;Mitochondrion intermembrane space;Focal adhesion;Nucleolus;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Regulates formation of new microtubules and centrosome integrity. Prevents the TBCD-induced microtubule destruction. Participates in association with TBCD, in the disassembly of the apical junction complexes. Antagonizes the effect of TBCD on epithelial cell detachment and tight and adherens junctions disassembly. Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. Component of a regulated secretory pathway involved in Ca(2+)-dependent release of acetylcholine. Required for normal progress through the cell cycle. Not N-myristoylated. Belongs to the small GTPase superfamily. Arf family. Post-chaperonin tubulin folding pathway;Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane PE1 11 +NX_P36405 ADP-ribosylation factor-like protein 3 182 20456 6.74 0 Cytoplasm;Cell membrane;Cilium;Nucleoplasm;Centrosome;Golgi apparatus membrane;Spindle;Nucleus Joubert syndrome 35;Retinitis pigmentosa 83 Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP) (PubMed:16525022, PubMed:18588884). Required for normal cytokinesis and cilia signaling (PubMed:22085962). Requires assistance from GTPase-activating proteins (GAPs) like RP2 and PDE6D, in order to cycle between inactive GDP-bound and active GTP-bound forms. Required for targeting proteins to the cilium, including myristoylated NPHP3 and prenylated INPP5E (PubMed:30269812). Targets NPHP3 to the ciliary membrane by releasing myristoylated NPHP3 from UNC119B cargo adapter into the cilium (PubMed:22085962). Required for PKD1:PKD2 complex targeting from the trans-Golgi network to the cilium (By similarity). NA Belongs to the small GTPase superfamily. Arf family. Trafficking of myristoylated proteins to the cilium PE1 10 +NX_P36406 E3 ubiquitin-protein ligase TRIM23 574 64067 5.93 0 Cytoplasm;Endomembrane system;Lysosome membrane;Golgi apparatus membrane NA Acts as an E3 ubiquitin-protein ligase. Plays an essential role in autophagy activation during viral infection. Mechanistically, activates TANK-binding kinase 1/TBK1 by facilitating its dimerization and ability to phosphorylate the selective autophagy receptor SQSTM1. In order to achieve this function, TRIM23 mediates 'Lys-27'-linked auto-ubiquitination of its ADP-ribosylation factor (ARF) domain to induce its GTPase activity and its recruitment to autophagosomes (PubMed:28871090).;(Microbial infection) Mediates TRAF6 auto-ubiquitination in the presence of human cytomegalovirus protein UL144, resulting in the virally controlled activation of NF-kappa-B stimulation at early times of HCMV infection. NA In the C-terminal section; belongs to the small GTPase superfamily. Arf family. Protein modification; protein ubiquitination. PE1 5 +NX_P36507 Dual specificity mitogen-activated protein kinase kinase 2 400 44424 6.12 0 Membrane;Cytoplasm;Cytosol Cardiofaciocutaneous syndrome 4 Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in MAP kinases. Activates the ERK1 and ERK2 MAP kinases (By similarity). Activates BRAF in a KSR1 or KSR2-dependent manner; by binding to KSR1 or KSR2 releases the inhibitory intramolecular interaction between KSR1 or KSR2 protein kinase and N-terminal domains which promotes KSR1 or KSR2-BRAF dimerization and BRAF activation (PubMed:29433126). MAPKK is itself dependent on Ser/Thr phosphorylation for activity catalyzed by MAP kinase kinase kinases (RAF or MEKK1). Phosphorylated by MAP2K1/MEK1 (By similarity).;Acetylation of Ser-222 and Ser-226 by Yersinia yopJ prevents phosphorylation and activation, thus blocking the MAPK signaling pathway.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. MAPK signaling pathway;ErbB signaling pathway;Vascular smooth muscle contraction;VEGF signaling pathway;Gap junction;Toll-like receptor signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Long-term potentiation;Neurotrophin signaling pathway;Long-term depression;Regulation of actin cytoskeleton;Insulin signaling pathway;GnRH signaling pathway;Melanogenesis;Prion diseases;Influenza A;Pathways in cancer;Renal cell carcinoma;Endometrial cancer;Glioma;Prostate cancer;Thyroid cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer;Uptake and function of anthrax toxins;Signal transduction by L1;RAF activation;MAP2K and MAPK activation;Negative feedback regulation of MAPK pathway;MAPK1 (ERK2) activation;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 19 +NX_P36508 Zinc finger protein 76 570 61831 5.66 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 6 +NX_P36537 UDP-glucuronosyltransferase 2B10 528 60774 9.12 1 Microsome membrane;Endoplasmic reticulum membrane NA UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. NA Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Glucuronidation PE1 4 +NX_P36542 ATP synthase subunit gamma, mitochondrial 298 32996 9.23 0 Cytoplasm;Mitochondrion inner membrane NA Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and the central stalk which is part of the complex rotary element. The gamma subunit protrudes into the catalytic domain formed of alpha(3)beta(3). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. NA Belongs to the ATPase gamma chain family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Formation of ATP by chemiosmotic coupling;Cristae formation PE1 10 +NX_P36543 V-type proton ATPase subunit E 1 226 26145 7.7 0 Nucleoplasm Cutis laxa, autosomal recessive, 2C Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. NA Belongs to the V-ATPase E subunit family. Oxidative phosphorylation;Metabolic pathways;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE1 22 +NX_P36544 Neuronal acetylcholine receptor subunit alpha-7 502 56449 6.02 4 Cell membrane;Postsynaptic cell membrane NA After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is blocked by alpha-bungarotoxin. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-7/CHRNA7 sub-subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Cholinergic synapse;Highly calcium permeable postsynaptic nicotinic acetylcholine receptors PE1 15 +NX_P36551 Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial 454 50152 8.59 0 Mitochondrion intermembrane space;Mitochondrion Hereditary coproporphyria Involved in the heme biosynthesis. Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX. NA Belongs to the aerobic coproporphyrinogen-III oxidase family. Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; protoporphyrinogen-IX from coproporphyrinogen-III (O2 route): step 1/1.;Porphyrin and chlorophyll metabolism;Metabolic pathways;Heme biosynthesis PE1 3 +NX_P36575 Arrestin-C 388 42778 5.53 0 Photoreceptor inner segment;Photoreceptor outer segment Myopia 26, X-linked, female-limited May play a role in an as yet undefined retina-specific signal transduction. Could binds to photoactivated-phosphorylated red/green opsins. NA Belongs to the arrestin family. NA PE1 X +NX_P36578 60S ribosomal protein L4 427 47697 11.07 0 Endoplasmic reticulum;Nucleus;Nucleolus;Cytosol NA NA Citrullinated by PADI4. Belongs to the universal ribosomal protein uL4 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 15 +NX_P36639 7,8-dihydro-8-oxoguanine triphosphatase 197 22520 5.15 0 Mitochondrion matrix;Nucleus;Cytosol NA Antimutagenic (PubMed:8226881, PubMed:7713500, PubMed:10608900). Plays a redundant role in sanitizing oxidized nucleotide pools, such as 8-oxo-dGTP pools (PubMed:28679043). Acts as a sanitizing enzyme for oxidized nucleotide pools, thus suppressing cell dysfunction and death induced by oxidative stress (PubMed:12857738, PubMed:24695224, PubMed:24695225). Hydrolyzes 8-oxo-dGTP, 8-oxo-dATP and 2-OH-dATP, thus preventing misincorporation of oxidized purine nucleoside triphosphates into DNA and subsequently preventing A:T to C:G and G:C to T:A transversions (PubMed:8226881, PubMed:10373420, PubMed:10608900, PubMed:11756418, PubMed:12857738, PubMed:16607562, PubMed:24695224, PubMed:24695225, PubMed:26999531, PubMed:28035004). Able to hydrolyze also the corresponding ribonucleotides, 2-OH-ATP, 8-oxo-GTP and 8-oxo-ATP (PubMed:10373420, PubMed:11139615). Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA (By similarity). The N-terminus is blocked. Belongs to the Nudix hydrolase family. Phosphate bond hydrolysis by NUDT proteins PE1 7 +NX_P36776 Lon protease homolog, mitochondrial 959 106489 6.01 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion CODAS syndrome ATP-dependent serine protease that mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides as well as certain short-lived regulatory proteins in the mitochondrial matrix. May also have a chaperone function in the assembly of inner membrane protein complexes. Participates in the regulation of mitochondrial gene expression and in the maintenance of the integrity of the mitochondrial genome. Binds to mitochondrial promoters and RNA in a single-stranded, site-specific, and strand-specific manner. May regulate mitochondrial DNA replication and/or gene expression using site-specific, single-stranded DNA binding to target the degradation of regulatory proteins binding to adjacent sites in mitochondrial promoters (PubMed:12198491, PubMed:15870080, PubMed:17420247, PubMed:8248235). Endogenous substrates include mitochondrial steroidogenic acute regulatory (StAR) protein, helicase Twinkle (TWNK) and the large ribosomal subunit protein bL32m. BL32m is protected from degradation by LONP1 when it is bound to a nucleic acid (RNA), but TWNK is not (PubMed:17579211, PubMed:28377575). NA Belongs to the peptidase S16 family. NA PE1 19 +NX_P36871 Phosphoglucomutase-1 562 61449 6.3 0 Cytoplasm Congenital disorder of glycosylation 1T This enzyme participates in both the breakdown and synthesis of glucose. Phosphorylation at Thr-467 by PAK1 significantly enhances enzymatic activity. Belongs to the phosphohexose mutase family. Glycolysis / Gluconeogenesis;Pentose phosphate pathway;Galactose metabolism;Purine metabolism;Starch and sucrose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Glycogen synthesis;Defective PGM1 causes PGM1-CDG (CDG1t);Neutrophil degranulation PE1 1 +NX_P36873 Serine/threonine-protein phosphatase PP1-gamma catalytic subunit 323 36984 6.12 0 Cytoplasm;Mitochondrion;Cleavage furrow;Nucleus speckle;Nucleolus;Midbody;Nucleoplasm;Nucleus;Kinetochore NA Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase 1 (PP1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Dephosphorylates RPS6KB1. Involved in regulation of ionic conductances and long-term synaptic plasticity. May play an important role in dephosphorylating substrates such as the postsynaptic density-associated Ca(2+)/calmodulin dependent protein kinase II. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. In balance with CSNK1D and CSNK1E, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. May dephosphorylate CSNK1D and CSNK1E. Dephosphorylates the 'Ser-418' residue of FOXP3 in regulatory T-cells (Treg) from patients with rheumatoid arthritis, thereby inactivating FOXP3 and rendering Treg cells functionally defective (PubMed:23396208). Phosphorylated by NEK2. Belongs to the PPP phosphatase family. PP-1 subfamily. Oocyte meiosis;Vascular smooth muscle contraction;Focal adhesion;Long-term potentiation;Dopaminergic synapse;Regulation of actin cytoskeleton;Insulin signaling pathway;Herpes simplex infection;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Triglyceride catabolism;Circadian Clock;Downregulation of TGF-beta receptor signaling;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 12 +NX_P36888 Receptor-type tyrosine-protein kinase FLT3 993 112903 5.48 1 Membrane;Endoplasmic reticulum;Endoplasmic reticulum lumen Leukemia, acute myelogenous Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine FLT3LG and regulates differentiation, proliferation and survival of hematopoietic progenitor cells and of dendritic cells. Promotes phosphorylation of SHC1 and AKT1, and activation of the downstream effector MTOR. Promotes activation of RAS signaling and phosphorylation of downstream kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation of FES, FER, PTPN6/SHP, PTPN11/SHP-2, PLCG1, and STAT5A and/or STAT5B. Activation of wild-type FLT3 causes only marginal activation of STAT5A or STAT5B. Mutations that cause constitutive kinase activity promote cell proliferation and resistance to apoptosis via the activation of multiple signaling pathways. N-glycosylated, contains complex N-glycans with sialic acid.;Rapidly ubiquitinated by UBE2L6 and the E3 ubiquitin-protein ligase SIAH1 after autophosphorylation, leading to its proteasomal degradation.;Autophosphorylated on several tyrosine residues in response to FLT3LG binding. FLT3LG binding also increases phosphorylation of mutant kinases that are constitutively activated. Dephosphorylated by PTPRJ/DEP-1, PTPN1, PTPN6/SHP-1, and to a lesser degree by PTPN12. Dephosphorylation is important for export from the endoplasmic reticulum and location at the cell membrane.;Autophosphorylated (Phosphotyrosine:PTM-0255);FLT3 is phosphorylated by FYN (Phosphotyrosine:PTM-0255);FLT3 is phosphorylated by LYN (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. Cytokine-cytokine receptor interaction;Hematopoietic cell lineage;Pathways in cancer;Acute myeloid leukemia;RAF/MAP kinase cascade;PI3K Cascade;FLT3 Signaling;STAT5 Activation PE1 13 +NX_P36894 Bone morphogenetic protein receptor type-1A 532 60198 7.71 1 Cell surface;Cytosol;Cell membrane Juvenile polyposis syndrome;Polyposis syndrome, mixed hereditary 2 On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction. Mediates induction of adipogenesis by GDF6. Glycosylated. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Cytokine-cytokine receptor interaction;TGF-beta signaling pathway;Signaling by BMP PE1 10 +NX_P36896 Activin receptor type-1B 505 56807 6.6 1 Cytosol;Cell membrane NA Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2. Ubiquitinated.;Autophosphorylated. Phosphorylated by activin receptor type-2 (ACVR2A or ACVR2B) in response to activin-binding at serine and threonine residues in the GS domain. Phosphorylation of ACVR1B by activin receptor type-2 regulates association with SMAD7.;Ubiquitinated. Level of ubiquitination is regulated by the SMAD7-SMURF1 complex.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);ACVR1B is phosphorylated by ACVR2B (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Cytokine-cytokine receptor interaction;Signaling by NODAL;Signaling by Activin;Regulation of signaling by NODAL PE1 12 +NX_P36897 TGF-beta receptor type-1 503 55960 7.51 1 Cell surface;Tight junction;Membrane raft;Cell membrane Loeys-Dietz syndrome 1;Multiple self-healing squamous epithelioma Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFBR1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways. For instance, TGFBR1 induces TRAF6 autoubiquitination which in turn results in MAP3K7 ubiquitination and activation to trigger apoptosis. Also regulates epithelial to mesenchymal transition through a SMAD-independent signaling pathway through PARD6A phosphorylation and activation. N-Glycosylated.;Phosphorylated at basal levels in the absence of ligand. Activated upon phosphorylation by TGFBR2, mainly in the GS domain. Phosphorylation in the GS domain abrogates FKBP1A-binding.;Ubiquitinated; undergoes ubiquitination catalyzed by several E3 ubiquitin ligases including SMURF1, SMURF2 and NEDD4L2. Results in the proteasomal and/or lysosomal degradation of the receptor thereby negatively regulating its activity. Deubiquitinated by USP15, leading to stabilization of the protein and enhanced TGF-beta signal. Its ubiquitination and proteasome-mediated degradation is negatively regulated by SDCBP (PubMed:25893292). Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. MAPK signaling pathway;Cytokine-cytokine receptor interaction;Endocytosis;TGF-beta signaling pathway;Osteoclast differentiation;Adherens junction;Chagas disease (American trypanosomiasis);HTLV-I infection;Pathways in cancer;Colorectal cancer;Pancreatic cancer;Chronic myeloid leukemia;TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition);Downregulation of TGF-beta receptor signaling;TGF-beta receptor signaling activates SMADs;SMAD2/3 Phosphorylation Motif Mutants in Cancer;TGFBR1 KD Mutants in Cancer;TGFBR2 Kinase Domain Mutants in Cancer;TGFBR1 LBD Mutants in Cancer;UCH proteinases;Ub-specific processing proteases PE1 9 +NX_P36915 Guanine nucleotide-binding protein-like 1 607 68661 5.57 0 Cytoplasmic vesicle NA Possible regulatory or functional link with the histocompatibility cluster. NA Belongs to the TRAFAC class YlqF/YawG GTPase family. NA PE1 6 +NX_P36941 Tumor necrosis factor receptor superfamily member 3 435 46709 5.53 1 Membrane;Golgi apparatus NA Receptor for the heterotrimeric lymphotoxin containing LTA and LTB, and for TNFS14/LIGHT. Promotes apoptosis via TRAF3 and TRAF5. May play a role in the development of lymphoid organs. NA NA Cytokine-cytokine receptor interaction;Intestinal immune network for IgA production;HTLV-I infection;TNFR2 non-canonical NF-kB pathway;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway PE1 12 +NX_P36952 Serpin B5 375 42100 5.72 0 Cytoplasmic vesicle;Extracellular space NA Tumor suppressor. It blocks the growth, invasion, and metastatic properties of mammary tumors. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity. NA Belongs to the serpin family. Ov-serpin subfamily. p53 signaling pathway PE1 18 +NX_P36954 DNA-directed RNA polymerase II subunit RPB9 125 14523 5.04 0 Nucleoplasm;Nucleolus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB9 is part of the upper jaw surrounding the central large cleft and thought to grab the incoming DNA template (By similarity). NA Belongs to the archaeal RpoM/eukaryotic RPA12/RPB9/RPC11 RNA polymerase family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Huntington's disease;Viral Messenger RNA Synthesis;Transcriptional regulation by small RNAs;PIWI-interacting RNA (piRNA) biogenesis;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;Processing of Capped Intron-Containing Pre-mRNA;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;MicroRNA (miRNA) biogenesis;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Activation of anterior HOX genes in hindbrain development during early embryogenesis;FGFR2 alternative splicing;RNA polymerase II transcribes snRNA genes;Signaling by FGFR2 IIIa TM;TP53 Regulates Transcription of DNA Repair Genes;Estrogen-dependent gene expression PE1 19 +NX_P36955 Pigment epithelium-derived factor 418 46312 5.97 0 Melanosome;Secreted Osteogenesis imperfecta 6 Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity. N- and O-glycosylated. O-glycosylated with a core 1 or possibly core 8 glycan.;The N-terminus is blocked. Extracellular phosphorylation enhances antiangiogenic activity. Belongs to the serpin family. NA PE1 17 +NX_P36956 Sterol regulatory element-binding protein 1 1147 121675 8.43 2 Golgi apparatus;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Golgi apparatus membrane;Cytosol;Nucleus NA Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as well as the fatty acid and to a lesser degree the cholesterol synthesis pathway (By similarity). Binds to the sterol regulatory element 1 (SRE-1) (5'-ATCACCCCAC-3'). Has dual sequence specificity binding to both an E-box motif (5'-ATCACGTGA-3') and to SRE-1 (5'-ATCACCCCAC-3'). Phosphorylated by AMPK, leading to suppress protein processing and nuclear translocation, and repress target gene expression. Phosphorylation at Ser-402 by SIK1 represses activity possibly by inhibiting DNA-binding (By similarity).;At low cholesterol the SCAP/SREBP complex is recruited into COPII vesicles for export from the ER. In the Golgi complex SREBPs are cleaved sequentially by site-1 and site-2 protease. The first cleavage by site-1 protease occurs within the luminal loop, the second cleavage by site-2 protease occurs within the first transmembrane domain and releases the transcription factor from the Golgi membrane. Apoptosis triggers cleavage by the cysteine proteases caspase-3 and caspase-7.;SREBF1 is phosphorylated by GSK3B (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the SREBP family. Insulin signaling pathway;PPARA activates gene expression;RORA activates gene expression;Activation of gene expression by SREBF (SREBP);Transcriptional regulation of white adipocyte differentiation;Regulation of cholesterol biosynthesis by SREBP (SREBF);FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 17 +NX_P36957 Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial 453 48755 9.1 0 Mitochondrion matrix;Nucleus NA Dihydrolipoamide succinyltransferase (E2) component of the 2-oxoglutarate dehydrogenase complex (By similarity). The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2) (By similarity). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711). NA Belongs to the 2-oxoacid dehydrogenase family. Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 6/6.;Citrate cycle (TCA cycle);Lysine degradation;Metabolic pathways;Citric acid cycle (TCA cycle);Lysine catabolism;Glyoxylate metabolism and glycine degradation PE1 14 +NX_P36959 GMP reductase 1 345 37419 6.6 0 NA NA Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides. NA Belongs to the IMPDH/GMPR family. GuaC type 1 subfamily. Purine metabolism;Purine salvage PE1 6 +NX_P36969 Phospholipid hydroperoxide glutathione peroxidase 197 22175 8.69 0 Cytoplasm;Nucleoplasm;Mitochondrion Spondylometaphyseal dysplasia, Sedaghatian type Essential antioxidant peroxidase that directly reduces phospholipid hydroperoxide even if they are incorporated in membranes and lipoproteins (By similarity). Can also reduce fatty acid hydroperoxide, cholesterol hydroperoxide and thymine hydroperoxide (By similarity). Plays a key role in protecting cells from oxidative damage by preventing membrane lipid peroxidation (By similarity). Required to prevent cells from ferroptosis, a non-apoptotic cell death resulting from an iron-dependent accumulation of lipid reactive oxygen species (PubMed:24439385). The presence of selenocysteine (Sec) versus Cys at the active site is essential for life: it provides resistance to overoxidation and prevents cells against ferroptosis (By similarity). The presence of Sec at the active site is also essential for the survival of a specific type of parvalbumin-positive interneurons, thereby preventing against fatal epileptic seizures (By similarity). May be required to protect cells from the toxicity of ingested lipid hydroperoxides (By similarity). Required for normal sperm development and male fertility (By similarity). Essential for maturation and survival of photoreceptor cells (By similarity). Plays a role in a primary T-cell response to viral and parasitic infection by protecting T-cells from ferroptosis and by supporting T-cell expansion (By similarity). NA Belongs to the glutathione peroxidase family. Glutathione metabolism;Synthesis of 15-eicosatetraenoic acid derivatives;Synthesis of 12-eicosatetraenoic acid derivatives;Synthesis of 5-eicosatetraenoic acids;Biosynthesis of D-series resolvins;Biosynthesis of E-series 18(S)-resolvins;Biosynthesis of aspirin-triggered D-series resolvins;Biosynthesis of E-series 18(R)-resolvins PE1 19 +NX_P36980 Complement factor H-related protein 2 270 30651 6 0 Secreted NA Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism. N-glycosylated. NA Regulation of Complement cascade PE1 1 +NX_P37023 Serine/threonine-protein kinase receptor R3 503 56124 7.56 1 Cell membrane Telangiectasia, hereditary hemorrhagic, 2 Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well. NA Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Signaling by BMP PE1 12 +NX_P37058 Testosterone 17-beta-dehydrogenase 3 310 34516 8.9 0 Endoplasmic reticulum;Cytoplasmic vesicle Male pseudohermaphrodism with gynecomastia Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily. Hormone biosynthesis; testosterone biosynthesis.;Steroid hormone biosynthesis;Metabolic pathways;Synthesis of very long-chain fatty acyl-CoAs;Androgen biosynthesis PE1 9 +NX_P37059 Estradiol 17-beta-dehydrogenase 2 387 42785 8.79 1 Membrane;Endoplasmic reticulum NA Capable of catalyzing the interconversion of testosterone and androstenedione, as well as estradiol and estrone. Also has 20-alpha-HSD activity. Uses NADH while EDH17B3 uses NADPH. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Steroid hormone biosynthesis;Metabolic pathways;Estrogen biosynthesis PE1 16 +NX_P37088 Amiloride-sensitive sodium channel subunit alpha 669 75704 7.47 2 Cytoplasm;Cilium;Flagellum;Apical cell membrane;Cytoplasmic granule;Acrosome Bronchiectasis with or without elevated sweat chloride 2;Pseudohypoaldosteronism 1, autosomal recessive;Liddle syndrome 3 Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and eccrine sweat glands. Also plays a role in taste perception. N-glycosylated.;Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation.;ENaC cleavage by furin, and subsequently by prostasin (PRSS8), leads to a stepwise increase in the open probability of the channel as a result of release of the alpha and gamma subunit inhibitory tracts, respectively. Interaction of ENaC subunit SCNN1B with BPIFA1 protects ENaC against proteolytic activation. Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1A subfamily. Taste transduction;Aldosterone-regulated sodium reabsorption;Stimuli-sensing channels PE1 12 +NX_P37108 Signal recognition particle 14 kDa protein 136 14570 10.05 0 Nucleoplasm;Cytoplasm;Nucleolus NA Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. SRP9 together with SRP14 and the Alu portion of the SRP RNA, constitutes the elongation arrest domain of SRP. The complex of SRP9 and SRP14 is required for SRP RNA binding. NA Belongs to the SRP14 family. Protein export;SRP-dependent cotranslational protein targeting to membrane;Neutrophil degranulation PE1 15 +NX_P37173 TGF-beta receptor type-2 567 64568 5.6 1 Membrane raft;Cell membrane Hereditary non-polyposis colorectal cancer 6;Esophageal cancer;Loeys-Dietz syndrome 2 Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFRB1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways. Phosphorylated on a Ser/Thr residue in the cytoplasmic domain.;Autophosphorylated (Phosphoserine:PTM-0253) Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. MAPK signaling pathway;Cytokine-cytokine receptor interaction;Endocytosis;TGF-beta signaling pathway;Osteoclast differentiation;Adherens junction;Chagas disease (American trypanosomiasis);HTLV-I infection;Pathways in cancer;Colorectal cancer;Pancreatic cancer;Chronic myeloid leukemia;TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition);Downregulation of TGF-beta receptor signaling;TGF-beta receptor signaling activates SMADs;SMAD2/3 Phosphorylation Motif Mutants in Cancer;TGFBR1 KD Mutants in Cancer;TGFBR2 Kinase Domain Mutants in Cancer;TGFBR1 LBD Mutants in Cancer;TGFBR2 MSI Frameshift Mutants in Cancer;UCH proteinases PE1 3 +NX_P37198 Nuclear pore glycoprotein p62 522 53255 5.21 0 Nuclear pore complex;Nucleus membrane;Nucleoplasm;Spindle pole;Centrosome;Nucleus envelope Infantile striatonigral degeneration Essential component of the nuclear pore complex (PubMed:1915414). The N-terminal is probably involved in nucleocytoplasmic transport (PubMed:1915414). The C-terminal is involved in protein-protein interaction probably via coiled-coil formation, promotes its association with centrosomes and may function in anchorage of p62 to the pore complex (PubMed:1915414, PubMed:24107630). Plays a role in mitotic cell cycle progression by regulating centrosome segregation, centriole maturation and spindle orientation (PubMed:24107630). It might be involved in protein recruitment to the centrosome after nuclear breakdown (PubMed:24107630). O-glycosylated. Contains about 10 N-acetylglucosamine side chain sites predicted for the entire protein, among which only one in the C-terminal.;The inner channel of the NPC has a different redox environment from the cytoplasm and allows the formation of interchain disulfide bonds between some nucleoporins, the significant increase of these linkages upon oxidative stress reduces the permeability of the NPC. Belongs to the nucleoporin NSP1/NUP62 family. RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 19 +NX_P37231 Peroxisome proliferator-activated receptor gamma 505 57620 5.61 0 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Nucleus Glioma 1;Lipodystrophy, familial partial, 3;Obesity (Microbial infection) Upon treatment with M.tuberculosis or its lipoprotein LpqH, phosphorylation of MAPK p38 and IL-6 production are modulated, probably via this protein.;Nuclear receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Once activated by a ligand, the nuclear receptor binds to DNA specific PPAR response elements (PPRE) and modulates the transcription of its target genes, such as acyl-CoA oxidase. It therefore controls the peroxisomal beta-oxidation pathway of fatty acids. Key regulator of adipocyte differentiation and glucose homeostasis. ARF6 acts as a key regulator of the tissue-specific adipocyte P2 (aP2) enhancer. Acts as a critical regulator of gut homeostasis by suppressing NF-kappa-B-mediated proinflammatory responses. Plays a role in the regulation of cardiovascular circadian rhythms by regulating the transcription of ARNTL/BMAL1 in the blood vessels (By similarity). Phosphorylated in basal conditions and dephosphorylated when treated with the ligand. May be dephosphorylated by PPP5C. The phosphorylated form may be inactive and dephosphorylation at Ser-112 induces adipogenic activity (By similarity).;O-GlcNAcylation at Thr-84 reduces transcriptional activity in adipocytes. Belongs to the nuclear hormone receptor family. NR1 subfamily. PPAR signaling pathway;Osteoclast differentiation;Huntington's disease;Pathways in cancer;Thyroid cancer;PPARA activates gene expression;Nuclear Receptor transcription pathway;Transcriptional regulation of white adipocyte differentiation;Regulation of PTEN gene transcription;SUMOylation of intracellular receptors;MECP2 regulates transcription factors PE1 3 +NX_P37235 Hippocalcin-like protein 1 193 22313 5.21 0 Membrane NA May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. NA Belongs to the recoverin family. NA PE1 2 +NX_P37268 Squalene synthase 417 48115 6.1 2 Endoplasmic reticulum;Endoplasmic reticulum membrane Squalene synthase deficiency NA NA Belongs to the phytoene/squalene synthase family. Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 1/3.;Steroid biosynthesis;Metabolic pathways;PPARA activates gene expression;Cholesterol biosynthesis;Activation of gene expression by SREBF (SREBP) PE1 8 +NX_P37275 Zinc finger E-box-binding homeobox 1 1124 124074 4.87 0 Nucleoplasm;Nucleus Corneal dystrophy, Fuchs endothelial, 6;Corneal dystrophy, posterior polymorphous, 3 Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. Represses BCL6 transcription in the presence of the corepressor CTBP1. Positively regulates neuronal differentiation. Represses RCOR1 transcription activation during neurogenesis. Represses transcription by binding to the E box (5'-CANNTG-3'). Promotes tumorigenicity by repressing stemness-inhibiting microRNAs. NA Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family. Interleukin-4 and Interleukin-13 signaling PE1 10 +NX_P37287 Phosphatidylinositol N-acetylglucosaminyltransferase subunit A 484 54127 8.63 1 Endoplasmic reticulum membrane Multiple congenital anomalies-hypotonia-seizures syndrome 2;Paroxysmal nocturnal hemoglobinuria 1 Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis. NA Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Synthesis of glycosylphosphatidylinositol (GPI) PE1 X +NX_P37288 Vasopressin V1a receptor 418 46800 9.48 7 Cell membrane NA Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl-inositol-calcium second messenger system. Has been involved in social behaviors, including affiliation and attachment. NA Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Vascular smooth muscle contraction;G alpha (q) signalling events;Vasopressin-like receptors;Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI) PE1 12 +NX_P37802 Transgelin-2 199 22391 8.41 0 Cytosol;Cytoskeleton NA NA NA Belongs to the calponin family. Platelet degranulation PE1 1 +NX_P37837 Transaldolase 337 37540 6.36 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Transaldolase deficiency Transaldolase is important for the balance of metabolites in the pentose-phosphate pathway. NA Belongs to the transaldolase family. Type 1 subfamily. Carbohydrate degradation; pentose phosphate pathway; D-glyceraldehyde 3-phosphate and beta-D-fructose 6-phosphate from D-ribose 5-phosphate and D-xylulose 5-phosphate (non-oxidative stage): step 2/3.;Pentose phosphate pathway;Metabolic pathways;Pentose phosphate pathway;Insulin effects increased synthesis of Xylulose-5-Phosphate;TALDO1 deficiency: failed conversion of SH7P, GA3P to Fru(6)P, E4P;TALDO1 deficiency: failed conversion of Fru(6)P, E4P to SH7P, GA3P;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 11 +NX_P37840 Alpha-synuclein 140 14460 4.67 0 Cytoplasm;Secreted;Membrane;Synapse;Nucleus Parkinson disease 1, autosomal dominant;Parkinson disease 4, autosomal dominant;Dementia, Lewy body Neuronal protein that plays several roles in synaptic activity such as regulation of synaptic vesicle trafficking and subsequent neurotransmitter release. Participates as a monomer in synaptic vesicle exocytosis by enhancing vesicle priming, fusion and dilation of exocytotic fusion pores (PubMed:28288128, PubMed:30404828). Mechanistically, acts by increasing local Ca(2+) release from microdomains which is essential for the enhancement of ATP-induced exocytosis (PubMed:30404828). Acts also as a molecular chaperone in its multimeric membrane-bound state, assisting in the folding of synaptic fusion components called SNAREs (Soluble NSF Attachment Protein REceptors) at presynaptic plasma membrane in conjunction with cysteine string protein-alpha/DNAJC5 (PubMed:20798282). This chaperone activity is important to sustain normal SNARE-complex assembly during aging (PubMed:20798282). Plays also a role in the regulation of the dopamine neurotransmission by associating with the dopamine transporter (DAT1) and thereby modulating its activity (PubMed:26442590). Acetylation at Met-1 seems to be important for proper folding and native oligomeric structure.;Phosphorylated, predominantly on serine residues. Phosphorylation by CK1 appears to occur on residues distinct from the residue phosphorylated by other kinases. Phosphorylation of Ser-129 is selective and extensive in synucleinopathy lesions. In vitro, phosphorylation at Ser-129 promoted insoluble fibril formation. Phosphorylated on Tyr-125 by a PTK2B-dependent pathway upon osmotic stress.;Ubiquitinated. The predominant conjugate is the diubiquitinated form (By similarity).;Hallmark lesions of neurodegenerative synucleinopathies contain alpha-synuclein that is modified by nitration of tyrosine residues and possibly by dityrosine cross-linking to generated stable oligomers. Belongs to the synuclein family. Alzheimer's disease;Parkinson's disease;Amyloid fiber formation PE1 4 +NX_P38117 Electron transfer flavoprotein subunit beta 255 27844 8.25 0 Cytoplasm;Mitochondrion matrix;Mitochondrion Glutaric aciduria 2B Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:25416781, PubMed:15159392, PubMed:15975918). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:7912128). ETFB binds an AMP molecule that probably has a purely structural role (PubMed:8962055, PubMed:15159392, PubMed:15975918). Methylated. Trimethylation at Lys-200 and Lys-203 may negatively regulate the activity in electron transfer from acyl-CoA dehydrogenases. Belongs to the ETF beta-subunit/FixA family. Respiratory electron transport;Protein methylation PE1 19 +NX_P38159 RNA-binding motif protein, X chromosome 391 42332 10.06 0 Nucleus Mental retardation, X-linked, syndromic, 11 RNA-binding protein that plays several role in the regulation of pre- and post-transcriptional processes. Implicated in tissue-specific regulation of gene transcription and alternative splicing of several pre-mRNAs. Binds to and stimulates transcription from the tumor suppressor TXNIP gene promoter; may thus be involved in tumor suppression. When associated with SAFB, binds to and stimulates transcription from the SREBF1 promoter. Associates with nascent mRNAs transcribed by RNA polymerase II. Component of the supraspliceosome complex that regulates pre-mRNA alternative splice site selection. Can either activate or suppress exon inclusion; acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN2. Represses the splicing of MAPT/Tau exon 10. Binds preferentially to single-stranded 5'-CC[A/C]-rich RNA sequence motifs localized in a single-stranded conformation; probably binds RNA as a homodimer. Binds non-specifically to pre-mRNAs. Plays also a role in the cytoplasmic TNFR1 trafficking pathways; promotes both the IL-1-beta-mediated inducible proteolytic cleavage of TNFR1 ectodomains and the release of TNFR1 exosome-like vesicles to the extracellular compartment. Arg-185 is dimethylated, probably to asymmetric dimethylarginine.;O-glycosylated.;Cleavage of initiator Met is partial. If Met-1 is not removed, it is acetylated. If it is removed, Val-2 is acetylated. NA Spliceosome;mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA PE1 X +NX_P38398 Breast cancer type 1 susceptibility protein 1863 207721 5.29 0 Nucleoplasm;Cytoplasm;Nucleus;Chromosome Breast-ovarian cancer, familial, 1;Fanconi anemia, complementation group S;Breast cancer;Pancreatic cancer 4;Ovarian cancer E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Regulates centrosomal microtubule nucleation. Required for normal cell cycle progression from G2 to mitosis. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Required for FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation. Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks. Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8. Acts as a transcriptional activator (PubMed:20160719). Phosphorylation at Ser-308 by AURKA is required for normal cell cycle progression from G2 to mitosis. Phosphorylated in response to IR, UV, and various stimuli that cause checkpoint activation, probably by ATM or ATR. Phosphorylation at Ser-988 by CHEK2 regulates mitotic spindle assembly.;Autoubiquitinated, undergoes 'Lys-6'-linked polyubiquitination. 'Lys-6'-linked polyubiquitination does not promote degradation.;BRCA1 is phosphorylated by CHEK1;BRCA1 is phosphorylated by CHEK2;BRCA1 is phosphorylated by CDK4 NA Protein modification; protein ubiquitination.;Fanconi anemia pathway;Ubiquitin mediated proteolysis;SUMOylation of DNA damage response and repair proteins;Meiotic synapsis;Meiotic recombination;G2/M DNA damage checkpoint;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Nonhomologous End-Joining (NHEJ);TP53 Regulates Transcription of DNA Repair Genes;Regulation of TP53 Activity through Phosphorylation;Metalloprotease DUBs;Transcriptional Regulation by E2F6 PE1 17 +NX_P38405 Guanine nucleotide-binding protein G(olf) subunit alpha 381 44308 6.23 0 Nucleoplasm;Cytosol Dystonia 25 Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(olf) alpha mediates signal transduction within the olfactory neuroepithelium and the basal ganglia. May be involved in some aspect of visual transduction, and in mediating the effect of one or more hormones/neurotransmitters. NA Belongs to the G-alpha family. G(s) subfamily. Calcium signaling pathway;Dopaminergic synapse;Olfactory transduction;Chagas disease (American trypanosomiasis);Amoebiasis;Olfactory Signaling Pathway;Adenylate cyclase activating pathway;Adenylate cyclase inhibitory pathway PE1 18 +NX_P38432 Coilin 576 62608 9.2 0 Cajal body;Nucleoplasm;Nucleolus;Nucleus NA Component of nuclear coiled bodies, also known as Cajal bodies or CBs, which are involved in the modification and assembly of nucleoplasmic snRNPs. Symmetrical dimethylation of arginine residues within the RG repeat region enhances affinity for SMN, and thus localization of SMN complexes to CBs.;Phosphorylation during mitosis is associated with disassembly of CBs. Belongs to the coilin family. NA PE1 17 +NX_P38435 Vitamin K-dependent gamma-carboxylase 758 87561 8.17 5 Endoplasmic reticulum membrane Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency;Combined deficiency of vitamin K-dependent clotting factors 1 Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide. NA Belongs to the vitamin K-dependent gamma-carboxylase family. Gamma-carboxylation of protein precursors PE1 2 +NX_P38484 Interferon gamma receptor 2 337 37806 5.27 1 Golgi apparatus;Cytoplasm;Endoplasmic reticulum membrane;Cell membrane;Cytoplasmic vesicle membrane;Nucleoplasm;Golgi apparatus membrane Immunodeficiency 28 Associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:8124716, PubMed:7673114,PubMed:7615558). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:8124716, PubMed:7673114, PubMed:15356148). Required for signal transduction in contrast to other receptor subunit responsible for ligand binding (PubMed:7673114). NA Belongs to the type II cytokine receptor family. Cytokine-cytokine receptor interaction;Osteoclast differentiation;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Salmonella infection;Leishmaniasis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Tuberculosis;Measles;Influenza A;Herpes simplex infection;Interferon gamma signaling;Regulation of IFNG signaling PE1 21 +NX_P38567 Hyaluronidase PH-20 509 57848 6.62 0 Cell membrane NA Involved in sperm-egg adhesion. Upon fertilization sperm must first penetrate a layer of cumulus cells that surrounds the egg before reaching the zona pellucida. The cumulus cells are embedded in a matrix containing hyaluronic acid which is formed prior to ovulation. This protein aids in penetrating the layer of cumulus cells by digesting hyaluronic acid. N-glycosylated. Belongs to the glycosyl hydrolase 56 family. Glycosaminoglycan degradation;Metabolic pathways;Interaction With Cumulus Cells And The Zona Pellucida PE1 7 +NX_P38570 Integrin alpha-E 1179 130159 5.48 1 Membrane NA Integrin alpha-E/beta-7 is a receptor for E-cadherin. It mediates adhesion of intra-epithelial T-lymphocytes to epithelial cell monolayers. NA Belongs to the integrin alpha chain family. Regulation of actin cytoskeleton;Integrin cell surface interactions PE1 17 +NX_P38571 Lysosomal acid lipase/cholesteryl ester hydrolase 399 45419 6.42 0 Cytoplasmic vesicle;Lysosome Wolman disease;Cholesteryl ester storage disease Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor-mediated endocytosis of lipoprotein particles. Important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation. NA Belongs to the AB hydrolase superfamily. Lipase family. Steroid biosynthesis;Lysosome;LDL clearance PE1 10 +NX_P38606 V-type proton ATPase catalytic subunit A 617 68304 5.35 0 Nucleoplasm;Cytosol;Cytoplasm;Cytoplasmic vesicle Cutis laxa, autosomal recessive, 2D;Epileptic encephalopathy, infantile or early childhood, 3 Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633). May play a role in neurite development and synaptic connectivity (PubMed:29668857). NA Belongs to the ATPase alpha/beta chains family. Oxidative phosphorylation;Metabolic pathways;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE1 3 +NX_P38646 Stress-70 protein, mitochondrial 679 73680 5.87 0 Mitochondrion;Nucleolus Even-plus syndrome;Anemia, sideroblastic, 4 Chaperone protein which plays an important role in mitochondrial iron-sulfur cluster (ISC) biogenesis. Interacts with and stabilizes ISC cluster assembly proteins FXN, NFU1, NFS1 and ISCU (PubMed:26702583). Regulates erythropoiesis via stabilization of ISC assembly (PubMed:21123823, PubMed:26702583). May play a role in the control of cell proliferation and cellular aging (By similarity). NA Belongs to the heat shock protein 70 family. RNA degradation;Tuberculosis;Mitochondrial protein import;Regulation of HSF1-mediated heat shock response;Cristae formation;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 5 +NX_P38919 Eukaryotic initiation factor 4A-III 411 46871 6.3 0 Cytoplasm;Nucleoplasm;Nucleus speckle;Nucleus Richieri-Costa-Pereira syndrome ATP-dependent RNA helicase (PubMed:16170325). Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:22961380, PubMed:28502770, PubMed:28076346, PubMed:29301961). Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs (PubMed:16209946, PubMed:16170325, PubMed:16314458, PubMed:16923391, PubMed:16931718, PubMed:19033377, PubMed:20479275). The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Its RNA-dependent ATPase and RNA-helicase activities are induced by CASC3, but abolished in presence of the MAGOH-RBM8A heterodimer, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. The inhibition of ATPase activity by the MAGOH-RBM8A heterodimer increases the RNA-binding affinity of the EJC. Involved in translational enhancement of spliced mRNAs after formation of the 80S ribosome complex. Binds spliced mRNA in sequence-independent manner, 20-24 nucleotides upstream of mRNA exon-exon junctions. Shows higher affinity for single-stranded RNA in an ATP-bound core EJC complex than after the ATP is hydrolyzed. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the function is different from the established EJC assembly (PubMed:22203037). Involved in craniofacial development (PubMed:24360810). NA Belongs to the DEAD box helicase family. eIF4A subfamily. RNA transport;mRNA surveillance pathway;Spliceosome;ISG15 antiviral mechanism;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Deadenylation of mRNA;Regulation of expression of SLITs and ROBOs;RNA Polymerase II Transcription Termination PE1 17 +NX_P38935 DNA-binding protein SMUBP-2 993 109149 9.13 0 Nucleoplasm;Cytoplasm;Axon;Nucleus Charcot-Marie-Tooth disease 2S;Neuronopathy, distal hereditary motor, 6 5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver-type antifreeze protein gene. Exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region. May be involved in translation (By similarity). DNA-binding protein specific to 5'-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. Preferentially binds to the 5'-GGGCT-3' motif. Interacts with tRNA-Tyr. Stimulates the transcription of the human neurotropic virus JCV. NA Belongs to the DNA2/NAM7 helicase family. NA PE1 11 +NX_P38936 Cyclin-dependent kinase inhibitor 1 164 18119 8.69 0 Nucleoplasm;Cytoplasm;Nucleus NA May be involved in p53/TP53 mediated inhibition of cellular proliferation in response to DNA damage. Binds to and inhibits cyclin-dependent kinase activity, preventing phosphorylation of critical cyclin-dependent kinase substrates and blocking cell cycle progression. Functions in the nuclear localization and assembly of cyclin D-CDK4 complex and promotes its kinase activity towards RB1. At higher stoichiometric ratios, inhibits the kinase activity of the cyclin D-CDK4 complex. Inhibits DNA synthesis by DNA polymerase delta by competing with POLD3 for PCNA binding (PubMed:11595739). Ubiquitinated by MKRN1; leading to polyubiquitination and 26S proteasome-dependent degradation. Ubiquitinated by the DCX(DTL) complex, also named CRL4(CDT2) complex, leading to its degradation during S phase or following UV irradiation. Ubiquitination by the DCX(DTL) complex is essential to control replication licensing and is PCNA-dependent: interacts with PCNA via its PIP-box, while the presence of the containing the 'K+4' motif in the PIP box, recruit the DCX(DTL) complex, leading to its degradation. Ubiquitination at Ser-2 leads to degradation by the proteasome pathway. Ubiquitinated by RNF114; leading to proteasomal degradation.;Acetylation leads to protein stability. Acetylated in vitro on Lys-141, Lys-154, Lys-161 and Lys-163. Deacetylation by HDAC1 is prevented by competitive binding of C10orf90/FATS to HDAC1 (By similarity).;Phosphorylation of Thr-145 by Akt or of Ser-146 by PKC impairs binding to PCNA. Phosphorylation at Ser-114 by GSK3-beta enhances ubiquitination by the DCX(DTL) complex. Phosphorylation of Thr-145 by PIM2 enhances CDKN1A stability and inhibits cell proliferation. Phosphorylation of Thr-145 by PIM1 results in the relocation of CDKN1A to the cytoplasm and enhanced CDKN1A protein stability. UV radiation-induced phosphorylation at Thr-80 by LKB1 and at Ser-146 by NUAK1 leads to its degradation. Belongs to the CDI family. ErbB signaling pathway;Cell cycle;p53 signaling pathway;Hepatitis C;HTLV-I infection;Pathways in cancer;Glioma;Prostate cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;SCF(Skp2)-mediated degradation of p27/p21;Cyclin E associated events during G1/S transition;Cyclin A:Cdk2-associated events at S phase entry;Constitutive Signaling by AKT1 E17K in Cancer;Cyclin D associated events in G1;AKT phosphorylates targets in the cytosol;p53-Dependent G1 DNA Damage Response;Transcriptional activation of cell cycle inhibitor p21;The role of GTSE1 in G2/M progression after G2 checkpoint;TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest;TFAP2 (AP-2) family regulates transcription of cell cycle factors;Interleukin-4 and Interleukin-13 signaling;RUNX3 regulates CDKN1A transcription;Transcriptional regulation by RUNX2;FOXO-mediated transcription of cell cycle genes;Transcriptional regulation of granulopoiesis PE1 6 +NX_P39019 40S ribosomal protein S19 145 16060 10.31 0 Nucleoplasm;Nucleus Diamond-Blackfan anemia 1 Required for pre-rRNA processing and maturation of 40S ribosomal subunits. NA Belongs to the eukaryotic ribosomal protein eS19 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 19 +NX_P39023 60S ribosomal protein L3 403 46109 10.19 0 Cytoplasm;Cytosol;Nucleolus NA The L3 protein is a component of the large subunit of cytoplasmic ribosomes. NA Belongs to the universal ribosomal protein uL3 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 22 +NX_P39059 Collagen alpha-1(XV) chain 1388 141720 4.9 0 Endoplasmic reticulum;Extracellular matrix NA Restin potently inhibits angiogenesis.;Structural protein that stabilizes microvessels and muscle cells, both in heart and in skeletal muscle. O-glycosylated; with core 1 or possibly core 8 glycans. An N-terminal peptide contains chondroitin sulfate.;Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Belongs to the multiplexin collagen family. Protein digestion and absorption;Collagen degradation;Collagen biosynthesis and modifying enzymes;Assembly of collagen fibrils and other multimeric structures;Collagen chain trimerization PE1 9 +NX_P39060 Collagen alpha-1(XVIII) chain 1754 178188 5.67 0 Golgi apparatus;Basement membrane;Extracellular matrix;Secreted Knobloch syndrome 1 Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube.;Non-collagenous domain 1: May regulate extracellular matrix-dependent motility and morphogenesis of endothelial and non-endothelial cells; the function requires homotrimerization and implicates MAPK signaling.;Endostatin: Potently inhibits endothelial cell proliferation and angiogenesis (PubMed:9459295). May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling (By similarity). Inhibits VEGFA-induced endothelial cell proliferation and migration. Seems to inhibit VEGFA-mediated signaling by blocking the interaction of VEGFA to its receptor KDR/VEGFR2. Modulates endothelial cell migration in an integrin-dependent manner implicating integrin ITGA5:ITGB1 and to a lesser extent ITGAV:ITGB3 and ITGAV:ITGB5 (By similarity). May negatively regulate the activity of homotrimeric non-collagenous domain 1 (PubMed:11257123). Undergoes proteolytic processing by cathepsin-L and elastase-like proteases to generate both NC1 trimers and endostatin monomers (PubMed:10626789). In vitro, several proteolytic cleavage sites in the non-collagenous domain 1 hinge region generating different endostatin-like peptides are reported (By similarity).;Circulating endostatins are found as sialoglycoprotein and asialoglycoprotein structures.;Prolines at the third position of the tripeptide repeating unit (G-X-Y) of the triple-helical regions are hydroxylated. Belongs to the multiplexin collagen family. Protein digestion and absorption;Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;Assembly of collagen fibrils and other multimeric structures;Activation of Matrix Metalloproteinases;Laminin interactions;Collagen chain trimerization PE1 21 +NX_P39086 Glutamate receptor ionotropic, kainate 1 918 103981 6.65 3 Cell membrane;Postsynaptic cell membrane NA Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus. NA Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK1 subfamily. Neuroactive ligand-receptor interaction;Glutamatergic synapse;Activation of Ca-permeable Kainate Receptor;Activation of Na-permeable kainate receptors PE1 21 +NX_P39210 Protein Mpv17 176 19733 9.54 4 Mitochondrion inner membrane Charcot-Marie-Tooth disease, axonal, 2EE;Mitochondrial DNA depletion syndrome 6 Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis (PubMed:25861990). Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance (PubMed:26760297). May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation (By similarity). NA Belongs to the peroxisomal membrane protein PXMP2/4 family. Peroxisome;Peroxisomal protein import PE1 2 +NX_P39656 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit 456 50801 6.09 1 Endoplasmic reticulum;Endoplasmic reticulum membrane Congenital disorder of glycosylation 1R Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Required for the assembly of both SST3A- and SS3B-containing OST complexes. Required for efficient N-glycosylation.;Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (By similarity). Required for the assembly of both SST3A- and SS3B-containing OST complexes (PubMed:22467853). NA Belongs to the DDOST 48 kDa subunit family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Protein processing in endoplasmic reticulum;Advanced glycosylation endproduct receptor signaling;SRP-dependent cotranslational protein targeting to membrane;Asparagine N-linked glycosylation;Neutrophil degranulation PE1 1 +NX_P39687 Acidic leucine-rich nuclear phosphoprotein 32 family member A 249 28585 3.99 0 Endoplasmic reticulum;Cytoplasm;Nucleus NA Implicated in a number of cellular processes, including proliferation, differentiation, caspase-dependent and caspase-independent apoptosis, suppression of transformation (tumor suppressor), inhibition of protein phosphatase 2A, regulation of mRNA trafficking and stability in association with ELAVL1, and inhibition of acetyltransferases as part of the INHAT (inhibitor of histone acetyltransferases) complex. Plays a role in E4F1-mediated transcriptional repression. Phosphorylated on serine residues.;The N-terminus is blocked.;Some glutamate residues are glycylated by TTLL8. This modification occurs exclusively on glutamate residues and results in a glycine chain on the gamma-carboxyl group (By similarity). Belongs to the ANP32 family. HuR (ELAVL1) binds and stabilizes mRNA PE1 15 +NX_P39748 Flap endonuclease 1 380 42593 8.8 0 Nucleoplasm;Mitochondrion;Nucleolus NA Structure-specific nuclease with 5'-flap endonuclease and 5'-3' exonuclease activities involved in DNA replication and repair. During DNA replication, cleaves the 5'-overhanging flap structure that is generated by displacement synthesis when DNA polymerase encounters the 5'-end of a downstream Okazaki fragment. It enters the flap from the 5'-end and then tracks to cleave the flap base, leaving a nick for ligation. Also involved in the long patch base excision repair (LP-BER) pathway, by cleaving within the apurinic/apyrimidinic (AP) site-terminated flap. Acts as a genome stabilization factor that prevents flaps from equilibrating into structurs that lead to duplications and deletions. Also possesses 5'-3' exonuclease activity on nicked or gapped double-stranded DNA, and exhibits RNase H activity. Also involved in replication and repair of rDNA and in repairing mitochondrial DNA. Methylation at Arg-192 by PRMT5 impedes Ser-187 phosphorylation and increases interaction with PCNA.;Phosphorylation upon DNA damage induces relocalization to the nuclear plasma. Phosphorylation at Ser-187 by CDK2 occurs during late S-phase and results in dissociation from PCNA.;Acetylated by EP300. Acetylation inhibits both endonuclease and exonuclease activity. Acetylation also reduces DNA-binding activity but does not affect interaction with PCNA or EP300. Belongs to the XPG/RAD2 endonuclease family. FEN1 subfamily. POLB-Dependent Long Patch Base Excision Repair;PCNA-Dependent Long Patch Base Excision Repair;Removal of the Flap Intermediate from the C-strand;Removal of the Flap Intermediate;Early Phase of HIV Life Cycle;HDR through MMEJ (alt-NHEJ) PE1 11 +NX_P39877 Calcium-dependent phospholipase A2 138 15674 8.79 0 Secreted Fleck retina, familial benign PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. This isozyme hydrolyzes more efficiently L-alpha-1-palmitoyl-2-oleoyl phosphatidylcholine than L-alpha-1-palmitoyl-2-arachidonyl phosphatidylcholine, L-alpha-1-palmitoyl-2-arachidonyl phosphatidylethanolamine, or L-alpha-1-stearoyl-2-arachidonyl phosphatidylinositol. May be involved in the production of lung surfactant, the remodeling or regulation of cardiac muscle. This enzyme lacks one of the seven disulfide bonds found in similar PA2 proteins. Belongs to the phospholipase A2 family. Glycerophospholipid metabolism;Ether lipid metabolism;Arachidonic acid metabolism;Linoleic acid metabolism;alpha-Linolenic acid metabolism;Metabolic pathways;MAPK signaling pathway;Vascular smooth muscle contraction;VEGF signaling pathway;Fc epsilon RI signaling pathway;Glutamatergic synapse;Long-term depression;GnRH signaling pathway;Pancreatic secretion;Fat digestion and absorption;Toxoplasmosis;Synthesis of PA;Acyl chain remodelling of PG;Acyl chain remodelling of PC;Acyl chain remodelling of PS;Acyl chain remodelling of PE;Acyl chain remodelling of PI PE1 1 +NX_P39880 Homeobox protein cut-like 1 1505 164187 5.72 0 Nucleus Global developmental delay with or without impaired intellectual development Transcription factor involved in the control of neuronal differentiation in the brain. Regulates dendrite development and branching, and dendritic spine formation in cortical layers II-III. Also involved in the control of synaptogenesis. In addition, it has probably a broad role in mammalian development as a repressor of developmentally regulated gene expression. May act by preventing binding of positively-activing CCAAT factors to promoters. Component of nf-munr repressor; binds to the matrix attachment regions (MARs) (5' and 3') of the immunoglobulin heavy chain enhancer. Represses T-cell receptor (TCR) beta enhancer function by binding to MARbeta, an ATC-rich DNA sequence located upstream of the TCR beta enhancer. Binds to the TH enhancer; may require the basic helix-loop-helix protein TCF4 as a coactivator. NA Belongs to the CUT homeobox family. Signaling by FGFR1 in disease;Signaling by cytosolic FGFR1 fusion mutants PE1 7 +NX_P39900 Macrophage metalloelastase 470 54002 8.75 0 Extracellular matrix NA May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large and small amino acids at the P1' site, but has a preference for leucine. Aromatic or hydrophobic residues are preferred at the P1 site, with small hydrophobic residues (preferably alanine) occupying P3. NA Belongs to the peptidase M10A family. Degradation of the extracellular matrix;Collagen degradation PE1 11 +NX_P39905 Glial cell line-derived neurotrophic factor 211 23720 9.26 0 Nucleoplasm;Secreted;Cytoplasmic vesicle Hirschsprung disease 3;Congenital central hypoventilation syndrome;Pheochromocytoma Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake. NA Belongs to the TGF-beta family. GDNF subfamily. RAF/MAP kinase cascade;NCAM1 interactions;RET signaling PE1 5 +NX_P40121 Macrophage-capping protein 348 38499 5.82 0 Cytoplasm;Nucleoplasm;Lamellipodium;Melanosome;Ruffle;Nucleus NA Calcium-sensitive protein which reversibly blocks the barbed ends of actin filaments but does not sever preformed actin filaments. May play an important role in macrophage function. May play a role in regulating cytoplasmic and/or nuclear structures through potential interactions with actin. May bind DNA. The N-terminus is blocked. Belongs to the villin/gelsolin family. NA PE1 2 +NX_P40123 Adenylyl cyclase-associated protein 2 477 52824 5.95 0 Nucleoplasm;Cytosol;Cell membrane NA May have a regulatory bifunctional role. NA Belongs to the CAP family. Role of ABL in ROBO-SLIT signaling PE1 6 +NX_P40126 L-dopachrome tautomerase 519 59145 6.73 1 Cytoplasmic vesicle;Melanosome;Melanosome membrane;Cell membrane NA Catalyzes the conversion of L-dopachrome into 5,6-dihydroxyindole-2-carboxylic acid (DHICA) (PubMed:8306979). Involved in regulating eumelanin and phaeomelanin levels. Glycosylated. Belongs to the tyrosinase family. Pigment biosynthesis; melanin biosynthesis.;Tyrosine metabolism;Metabolic pathways;Melanogenesis;Melanin biosynthesis PE1 13 +NX_P40145 Adenylate cyclase type 8 1251 140122 6.53 12 Presynaptic cell membrane;Cell membrane;Basolateral cell membrane;Coated pit;Caveola;Postsynaptic density;Synapse;Clathrin-coated vesicle membrane;Dendrite;Apical cell membrane;Axon;Membrane raft NA Catalyzes the formation of cAMP in response to calcium entry leadings to cAMP signaling activation that affect processes suche as synaptic plasticity and insulin secretion. Plays a role in many brain functions, such as learning, memory, drug addiction, and anxiety modulation through regulation of synaptic plasticity by modulating long-term memory and long-term potentiation (LTP) through CREB transcription factor activity modulation. Plays a central role in insulin secretion by controlling glucose homeostasis through glucagon-like peptide 1 and glucose signaling pathway and maintains insulin secretion through calcium-dependent PKA activation leading to vesicle pool replenishment. Also, allows PTGER3 to induce potentiation of PTGER4-mediated PLA2 secretion by switching from a negative to a positive regulation, during the IL1B induced-dedifferentiation of smooth muscle cells. Phosphorylated by PKA; mediates inhibition of adenylate cyclase activity at membrane raft; does not influence either CALM1 or PPP2CA interaction with ADCY8.;N-glycosylated; N-glycosylation is responsible for raft-targeting; is not necessary for CCE-stimulated adenylate cyclase activity. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Calcium signaling pathway;Chemokine signaling pathway;Oocyte meiosis;Vascular smooth muscle contraction;Gap junction;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Taste transduction;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Bile secretion;HTLV-I infection;Dilated cardiomyopathy;G alpha (i) signalling events;G alpha (s) signalling events;Hedgehog 'off' state;PKA activation;PKA activation in glucagon signalling;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G alpha (z) signalling events;CREB1 phosphorylation through the activation of Adenylate Cyclase;Adenylate cyclase activating pathway;Adenylate cyclase inhibitory pathway PE1 8 +NX_P40189 Interleukin-6 receptor subunit beta 918 103537 5.62 1 Golgi apparatus;Secreted;Cell membrane NA Signal-transducing molecule. The receptor systems for IL6, LIF, OSM, CNTF, IL11, CTF1 and BSF3 can utilize IL6ST for initiating signal transmission. Binding of IL6 to IL6R induces IL6ST homodimerization and formation of a high-affinity receptor complex, which activates Janus kinases (PubMed:2261637). That causes phosphorylation of IL6ST tyrosine residues which in turn activates STAT3 (PubMed:19915009, PubMed:23294003). Mediates signals which regulate immune response, hematopoiesis, pain control and bone metabolism (By similarity). Has a role in embryonic development (By similarity). Does not bind IL6 (PubMed:2261637). Essential for survival of motor and sensory neurons and for differentiation of astrocytes (By similarity). Required for expression of TRPA1 in nociceptive neurons (By similarity). Required for the maintenance of PTH1R expression in the osteoblast lineage and for the stimulation of PTH-induced osteoblast differentiation (By similarity). Required for normal trabecular bone mass and cortical bone composition (By similarity). Heavily N-glycosylated (PubMed:11098061, PubMed:16335952, PubMed:19159218, PubMed:19139490, PubMed:11251120). Glycosylation is required for protein stability and localization in plasma membrane but not for ligand binding (PubMed:19915009).;Phosphorylation of Ser-782 down-regulates cell surface expression. Belongs to the type I cytokine receptor family. Type 2 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;MAPK3 (ERK1) activation;Interleukin-6 signaling;MAPK1 (ERK2) activation;IL-6-type cytokine receptor ligand interactions;Interleukin-35 Signalling;Interleukin-27 signaling PE1 5 +NX_P40197 Platelet glycoprotein V 560 60959 9.73 1 Membrane;Cytosol NA The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. The N-terminus is blocked. NA ECM-receptor interaction;Hematopoietic cell lineage;Platelet Adhesion to exposed collagen;Intrinsic Pathway of Fibrin Clot Formation;GP1b-IX-V activation signalling;Platelet Aggregation (Plug Formation) PE1 3 +NX_P40198 Carcinoembryonic antigen-related cell adhesion molecule 3 252 27091 6.15 1 Membrane NA Major granulocyte receptor mediating recognition and efficient opsonin-independent phagocytosis of CEACAM-binding microorganisms, including Neissiria, Moxarella and Haemophilus species, thus playing an important role in the clearance of pathogens by the innate immune system. Responsible for RAC1 stimulation in the course of pathogen phagocytosis. Tyrosine-phosphorylated in response to microbial binding. Tyr-230 and Tyr-241 are both required for phosphorylation to be detected. Belongs to the immunoglobulin superfamily. CEA family. Cell surface interactions at the vascular wall;Neutrophil degranulation PE1 19 +NX_P40199 Carcinoembryonic antigen-related cell adhesion molecule 6 344 37195 5.56 0 Cell surface;Apical cell membrane;Cell membrane NA Cell surface glycoprotein that plays a role in cell adhesion and tumor progression (PubMed:2803308, PubMed:2022629, PubMed:1378450, PubMed:8776764, PubMed:11590190, PubMed:10910050, PubMed:14724575, PubMed:16204051). Intercellular adhesion occurs in a calcium- and fibronectin-independent manner (PubMed:2022629, PubMed:16204051). Mediates homophilic and heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM5 and CEACAM8 (PubMed:2803308, PubMed:2022629, PubMed:8776764, PubMed:11590190, PubMed:16204051). Heterophilic interaction with CEACAM8 occurs in activated neutrophils (PubMed:8776764). Plays a role in neutrophil adhesion to cytokine-activated endothelial cells (PubMed:1378450). Plays a role as an oncogene by promoting tumor progression; positively regulates cell migration, cell adhesion to endothelial cells and cell invasion (PubMed:16204051). Also involved in the metastatic cascade process by inducing gain resistance to anoikis of pancreatic adenocarcinoma and colorectal carcinoma cells (PubMed:10910050, PubMed:14724575). Glycosylated. Belongs to the immunoglobulin superfamily. CEA family. Cell surface interactions at the vascular wall;Fibronectin matrix formation;Neutrophil degranulation PE1 19 +NX_P40200 T-cell surface protein tactile 585 65634 6.71 1 Membrane C syndrome May be involved in adhesive interactions of activated T and NK cells during the late phase of the immune response. Promotes NK cell-target adhesion by interacting with PVR present on target cells. May function at a time after T and NK cells have penetrated the endothelium using integrins and selectins, when they are actively engaging diseased cells and moving within areas of inflammation. NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 3 +NX_P40205 N-cym protein 109 11733 9.03 0 Cytoplasm;Nucleus NA Regulates stability of MYCN in neuroblastoma cells by inhibiting GSK3B-mediated MYCN phosphorylation. Inhibits GSK3B activity by promoting its phosphorylation at 'Ser-9' (PubMed:24391509). NA NA NA PE1 2 +NX_P40222 Alpha-taxilin 546 61891 6.15 0 Nucleoplasm;Cytoplasm;Cytosol;Centrosome NA May be involved in intracellular vesicle traffic and potentially in calcium-dependent exocytosis in neuroendocrine cells. NA Belongs to the taxilin family. Other interleukin signaling PE1 1 +NX_P40225 Thrombopoietin 353 37823 9.54 0 Secreted Thrombocythemia 1 Lineage-specific cytokine affecting the proliferation and maturation of megakaryocytes from their committed progenitor cells. It acts at a late stage of megakaryocyte development. It may be the major physiological regulator of circulating platelets. NA Belongs to the EPO/TPO family. Hematopoietic cell lineage;Platelet Aggregation (Plug Formation) PE1 3 +NX_P40227 T-complex protein 1 subunit zeta 531 58024 6.24 0 Cytoplasm NA Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). The TRiC complex plays a role in the folding of actin and tubulin (Probable). NA Belongs to the TCP-1 chaperonin family. Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Folding of actin by CCT/TriC;Association of TriC/CCT with target proteins during biosynthesis;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding PE1 7 +NX_P40238 Thrombopoietin receptor 635 71245 6.03 1 Cell surface;Golgi apparatus;Nucleus membrane;Cell membrane Thrombocythemia 2;Myelofibrosis with myeloid metaplasia;Congenital amegakaryocytic thrombocytopenia Receptor for thrombopoietin that acts as a primary regulator of megakaryopoiesis and platelet production. May represent a regulatory molecule specific for TPO-R-dependent immune responses. Ubiquitination at Lys-553 and Lys-573 targets MPL for degradation by both the lysosomal and proteasomal pathways. The E3 ubiquitin-protein ligase CBL significantly contributes to this ubiquitination. Belongs to the type I cytokine receptor family. Type 1 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Platelet Aggregation (Plug Formation) PE1 1 +NX_P40259 B-cell antigen receptor complex-associated protein beta chain 229 26048 5.67 1 Cell membrane Agammaglobulinemia 6, autosomal recessive Required in cooperation with CD79A for initiation of the signal transduction cascade activated by the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Enhances phosphorylation of CD79A, possibly by recruiting kinases which phosphorylate CD79A or by recruiting proteins which bind to CD79A and protect it from dephosphorylation. Phosphorylated on tyrosine upon B-cell activation by SRC-type Tyr-kinases such as BLK, LYN and SYK. NA B cell receptor signaling pathway;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;CD22 mediated BCR regulation PE1 17 +NX_P40261 Nicotinamide N-methyltransferase 264 29574 5.56 0 Golgi apparatus;Nucleoplasm;Cytosol;Cytoplasm NA Catalyzes the N-methylation of nicotinamide and other pyridines to form pyridinium ions. This activity is important for biotransformation of many drugs and xenobiotic compounds. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. NNMT/PNMT/TEMT family. Nicotinate and nicotinamide metabolism;Metabolic pathways;Methylation;Nicotinamide salvaging;Metabolism of ingested SeMet, Sec, MeSec into H2Se PE1 11 +NX_P40305 Interferon alpha-inducible protein 27, mitochondrial 122 11542 11.07 3 Mitochondrion membrane;Nucleus inner membrane;Endosome;Endoplasmic reticulum membrane NA Probable adapter protein involved in different biological processes (PubMed:22427340, PubMed:27194766). Part of the signaling pathways that lead to apoptosis (PubMed:18330707, PubMed:27673746, PubMed:24970806). Involved in type-I interferon-induced apoptosis characterized by a rapid and robust release of cytochrome C from the mitochondria and activation of BAX and caspases 2, 3, 6, 8 and 9 (PubMed:18330707, PubMed:27673746). Also functions in TNFSF10-induced apoptosis (PubMed:24970806). May also have a function in the nucleus, where it may be involved in the interferon-induced negative regulation of the transcriptional activity of NR4A1, NR4A2 and NR4A3 through the enhancement of XPO1-mediated nuclear export of these nuclear receptors (PubMed:22427340). May thereby play a role in the vascular response to injury (By similarity). In the innate immune response, has an antiviral activity towards hepatitis C virus/HCV (PubMed:27194766, PubMed:27777077). May prevent the replication of the virus by recruiting both the hepatitis C virus non-structural protein 5A/NS5A and the ubiquitination machinery via SKP2, promoting the ubiquitin-mediated proteasomal degradation of NS5A (PubMed:27194766, PubMed:27777077). NA Belongs to the IFI6/IFI27 family. Interferon alpha/beta signaling PE1 14 +NX_P40306 Proteasome subunit beta type-10 273 28936 7.69 0 Cytoplasmic vesicle;Cytosol;Cytoplasm;Nucleus NA The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Autocleaved. The resulting N-terminal Thr residue of the mature subunit is responsible for the nucleophile proteolytic activity. Belongs to the peptidase T1B family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 16 +NX_P40313 Chymotrypsin-like protease CTRL-1 264 28002 8.56 0 NA NA NA NA Belongs to the peptidase S1 family. Pancreatic secretion;Protein digestion and absorption PE1 16 +NX_P40337 von Hippel-Lindau disease tumor suppressor 213 24153 4.7 0 Cytoplasm;Membrane;Nucleoplasm;Cytosol;Nucleus Erythrocytosis, familial, 2;von Hippel-Lindau disease;Pheochromocytoma;Renal cell carcinoma Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2. NA Belongs to the VHL family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Pathways in cancer;Renal cell carcinoma;Antigen processing: Ubiquitination & Proteasome degradation;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Neddylation;SUMOylation of ubiquitinylation proteins PE1 3 +NX_P40394 All-trans-retinol dehydrogenase [NAD(+)] ADH7 386 41481 8.12 0 Cytoplasm;Cytosol;Cell membrane NA Catalyzes the NAD-dependent oxidation of all-trans-retinol, alcohol, and omega-hydroxy fatty acids and their derivatives (PubMed:15369820, PubMed:16787387, PubMed:9600267). Oxidizes preferentially all trans-retinol, all-trans-4-hydroxyretinol, 9-cis-retinol, 2-hexenol, and long chain omega-hydroxy fatty acids such as juniperic acid (PubMed:15369820, PubMed:16787387, PubMed:9600267). In vitro can also catalyzes the NADH-dependent reduction of all-trans-retinal and aldehydes and their derivatives (PubMed:15369820, PubMed:16787387, PubMed:9600267). Reduces preferentially all trans-retinal, all-trans-4-oxoretinal and hexanal (PubMed:15369820, PubMed:16787387). Catalyzes in the oxidative direction with higher efficiency (PubMed:16787387, PubMed:15369820). Therefore may participate in retinoid metabolism, fatty acid omega-oxidation, and elimination of cytotoxic aldehydes produced by lipid peroxidation (PubMed:9600267, PubMed:15369820, PubMed:16787387). NA Belongs to the zinc-containing alcohol dehydrogenase family. Class-IV subfamily. Glycolysis / Gluconeogenesis;Fatty acid metabolism;Tyrosine metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;Ethanol oxidation PE1 4 +NX_P40424 Pre-B-cell leukemia transcription factor 1 430 46626 6.54 0 Nucleus Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Binds the sequence 5'-ATCAATCAA-3'. Acts as a transcriptional activator of PF4 in complex with MEIS1. Converted into a potent transcriptional activator by the (1;19) translocation. May have a role in steroidogenesis and, subsequently, sexual development and differentiation.;As part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Probably in complex with MEIS2, is involved in transcriptional regulation by KLF4. Acts as a transcriptional activator of NKX2-5 and a transcriptional repressor of CDKN2B. Together with NKX2-5, it is required for spleen development through a mechanism that involves CDKN2B repression (By similarity). NA Belongs to the TALE/PBX homeobox family. Transcriptional regulation of pluripotent stem cells;Activation of anterior HOX genes in hindbrain development during early embryogenesis;NOTCH3 Intracellular Domain Regulates Transcription PE1 1 +NX_P40425 Pre-B-cell leukemia transcription factor 2 430 45881 7.18 0 Nucleoplasm;Nucleus NA Transcriptional activator that binds the sequence 5'-ATCAATCAA-3'. Activates transcription of PF4 in complex with MEIS1. NA Belongs to the TALE/PBX homeobox family. NA PE1 6 +NX_P40426 Pre-B-cell leukemia transcription factor 3 434 47190 6.57 0 Cytoplasm;Nucleus NA Transcriptional activator that binds the sequence 5'-ATCAATCAA-3'. NA Belongs to the TALE/PBX homeobox family. NA PE1 9 +NX_P40429 60S ribosomal protein L13a 203 23577 10.94 0 Cytoplasm NA Associated with ribosomes but is not required for canonical ribosome function and has extra-ribosomal functions. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes. Upon interferon-gamma activation and subsequent phosphorylation dissociates from the ribosome and assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation. In the GAIT complex interacts with m7G cap-bound eIF4G at or near the eIF3-binding site and blocks the recruitment of the 43S ribosomal complex. Involved in methylation of rRNA. Phosphorylation at Ser-77 upon interferon-gamma treatment in monocytes involves a DAPK1-DAPK3 kinase cascade and is causing release from the ribosome, association with the GAIT complex and subsequent involvement in transcript-selective translation inhibition.;Citrullinated by PADI4.;RPL13A is phosphorylated by DAPK3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the universal ribosomal protein uL13 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 19 +NX_P40616 ADP-ribosylation factor-like protein 1 181 20418 5.63 0 Membrane;Golgi apparatus;trans-Golgi network membrane;Golgi apparatus membrane NA GTP-binding protein that recruits several effectors, such as golgins, arfaptins and Arf-GEFs to the trans-Golgi network, and modulates their functions at the Golgi complex (PubMed:9624189, PubMed:21239483, PubMed:27436755, PubMed:22679020, PubMed:27373159). Plays thereby a role in a wide range of fundamental cellular processes, including cell polarity, innate immunity, or protein secretion mediated by arfaptins, which were shown to play a role in maintaining insulin secretion from pancreatic beta cells (PubMed:22981988). NA Belongs to the small GTPase superfamily. Arf family. Retrograde transport at the Trans-Golgi-Network PE1 12 +NX_P40617 ADP-ribosylation factor-like protein 4A 200 22615 9.26 0 Cytoplasm;Cell membrane;Nucleolus;Nucleoplasm;Cytosol NA Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in GDP-bound form. Myristoylated. Belongs to the small GTPase superfamily. Arf family. NA PE1 7 +NX_P40692 DNA mismatch repair protein Mlh1 756 84601 5.51 0 Nucleoplasm;Nucleus;Chromosome Endometrial cancer;Colorectal cancer;Hereditary non-polyposis colorectal cancer 2;Muir-Torre syndrome;Mismatch repair cancer syndrome Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis. NA Belongs to the DNA mismatch repair MutL/HexB family. Mismatch repair;Fanconi anemia pathway;Pathways in cancer;Colorectal cancer;Endometrial cancer;Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha);Meiotic recombination;Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta);TP53 Regulates Transcription of DNA Repair Genes;Defective Mismatch Repair Associated With MLH1;Defective Mismatch Repair Associated With PMS2 PE1 3 +NX_P40763 Signal transducer and activator of transcription 3 770 88068 5.94 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol Autoimmune disease, multisystem, infantile-onset, 1;Hyper-IgE recurrent infection syndrome 1, autosomal dominant Signal transducer and transcription activator that mediates cellular responses to interleukins, KITLG/SCF, LEP and other growth factors (PubMed:10688651, PubMed:12359225, PubMed:12873986, PubMed:15194700, PubMed:17344214, PubMed:18242580, PubMed:23084476). Once activated, recruits coactivators, such as NCOA1 or MED1, to the promoter region of the target gene (PubMed:17344214). May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4 (PubMed:12873986). Binds to the interleukin-6 (IL-6)-responsive elements identified in the promoters of various acute-phase protein genes (PubMed:12359225). Activated by IL31 through IL31RA (PubMed:15194700). Acts as a regulator of inflammatory response by regulating differentiation of naive CD4(+) T-cells into T-helper Th17 or regulatory T-cells (Treg): deacetylation and oxidation of lysine residues by LOXL3, leads to disrupt STAT3 dimerization and inhibit its transcription activity (PubMed:28065600). Involved in cell cycle regulation by inducing the expression of key genes for the progression from G1 to S phase, such as CCND1 (PubMed:17344214). Mediates the effects of LEP on melanocortin production, body energy homeostasis and lactation (By similarity). May play an apoptotic role by transctivating BIRC5 expression under LEP activation (PubMed:18242580). Cytoplasmic STAT3 represses macroautophagy by inhibiting EIF2AK2/PKR activity (PubMed:23084476). Plays a crucial role in basal beta cell functions, such as regulation of insulin secretion (By similarity). Some lysine residues are oxidized to allysine by LOXL3, leading to disrupt STAT3 dimerization and inhibit STAT3 transcription activity (PubMed:28065600). Oxidation of lysine residues to allysine on STAT3 preferentially takes place on lysine residues that are acetylated (PubMed:28065600).;Acetylated on lysine residues by CREBBP. Deacetylation by LOXL3 leads to disrupt STAT3 dimerization and inhibit STAT3 transcription activity (PubMed:28065600). Oxidation of lysine residues to allysine on STAT3 preferentially takes place on lysine residues that are acetylated (PubMed:28065600).;(Microbial infection) Phosphorylated on Tyr-705 in the presence of S.typhimurium SarA.;Tyrosine phosphorylated upon stimulation with EGF. Tyrosine phosphorylated in response to constitutively activated FGFR1, FGFR2, FGFR3 and FGFR4 (By similarity). Activated through tyrosine phosphorylation by BMX. Tyrosine phosphorylated in response to IL6, IL11, LIF, CNTF, KITLG/SCF, CSF1, EGF, PDGF, IFN-alpha, LEP and OSM. Activated KIT promotes phosphorylation on tyrosine residues and subsequent translocation to the nucleus. Phosphorylated on serine upon DNA damage, probably by ATM or ATR. Serine phosphorylation is important for the formation of stable DNA-binding STAT3 homodimers and maximal transcriptional activity. ARL2BP may participate in keeping the phosphorylated state of STAT3 within the nucleus. Upon LPS challenge, phosphorylated within the nucleus by IRAK1. Upon erythropoietin treatment, phosphorylated on Ser-727 by RPS6KA5. Phosphorylation at Tyr-705 by PTK6 or FER leads to an increase of its transcriptional activity. Dephosphorylation on tyrosine residues by PTPN2 negatively regulates IL6/interleukin-6 signaling.;STAT3 is phosphorylated by IGF1R (Phosphotyrosine:PTM-0255);STAT3 is phosphorylated by BMX (Phosphotyrosine:PTM-0255) Belongs to the transcription factor STAT family. Chemokine signaling pathway;Jak-STAT signaling pathway;Adipocytokine signaling pathway;Toxoplasmosis;Hepatitis C;Measles;Pathways in cancer;Pancreatic cancer;Acute myeloid leukemia;Transcriptional regulation of pluripotent stem cells;Interleukin-7 signaling;POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation;Senescence-Associated Secretory Phenotype (SASP);Association of TriC/CCT with target proteins during biosynthesis;Growth hormone receptor signaling;Signaling by SCF-KIT;BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members;Signaling by cytosolic FGFR1 fusion mutants;Interleukin-6 signaling;Signaling by Leptin;Downstream signal transduction;Signalling to STAT3;Interleukin-20 family signaling;PTK6 Activates STAT3;MET activates STAT3;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling;Interleukin-15 signaling;Interleukin-35 Signalling;Interleukin-9 signaling;Interleukin-37 signaling;Interleukin-23 signaling;Interleukin-21 signaling;Interleukin-27 signaling;Transcriptional regulation of granulopoiesis PE1 17 +NX_P40818 Ubiquitin carboxyl-terminal hydrolase 8 1118 127523 8.7 0 Cytoplasm;Golgi apparatus;Cell membrane;Endosome membrane;Cytosol;Nucleus Pituitary adenoma 4, ACTH-secreting Hydrolase that can remove conjugated ubiquitin from proteins and therefore plays an important regulatory role at the level of protein turnover by preventing degradation. Converts both 'Lys-48' an 'Lys-63'-linked ubiquitin chains. Catalytic activity is enhanced in the M phase. Involved in cell proliferation. Required to enter into S phase in response to serum stimulation. May regulate T-cell anergy mediated by RNF128 via the formation of a complex containing RNF128 and OTUB1. Probably regulates the stability of STAM2 and RASGRF1. Regulates endosomal ubiquitin dynamics, cargo sorting, membrane traffic at early endosomes, and maintenance of ESCRT-0 stability. The level of protein ubiquitination on endosomes is essential for maintaining the morphology of the organelle. Deubiquitinates EPS15 and controles tyrosine kinase stability. Removes conjugated ubiquitin from EGFR thus regulating EGFR degradation and downstream MAPK signaling. Involved in acrosome biogenesis through interaction with the spermatid ESCRT-0 complex and microtubules. Deubiquitinates BIRC6/bruce and KIF23/MKLP1. Deubiquitinates BACE1 which inhibits BACE1 lysosomal degradation and modulates BACE-mediated APP cleavage and amyloid-beta formation (PubMed:27302062). Phosphorylation of Ser-718 is essential for interaction with YWHAE and for cytosol localization. Undergoes dephosphorylation at Ser-718 in the M phase. Tyrosine-phosphorylated in its N-terminal half in an EGFR-dependent manner.;Ubiquitinated. Inactive form is mostly monoubiquitinated, but polyubiquitination happens too. Ubiquitination is increased in EGF-stimulated cells. Ubiquitination of active form is undetectable, suggesting a possibility that USP8 deubiquitinates itself, thereby regulating its own function (By similarity). Belongs to the peptidase C19 family. Endocytosis;Regulation of FZD by ubiquitination;Downregulation of ERBB2:ERBB3 signaling;Ub-specific processing proteases;Negative regulation of MET activity PE1 15 +NX_P40855 Peroxisomal biogenesis factor 19 299 32807 4.26 0 Peroxisome membrane;Cytoplasm;Peroxisome Peroxisome biogenesis disorder complementation group 14;Peroxisome biogenesis disorder 12A Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53. NA Belongs to the peroxin-19 family. Peroxisome;ABC transporters in lipid homeostasis;Class I peroxisomal membrane protein import PE1 1 +NX_P40879 Chloride anion exchanger 764 84505 8.87 10 Membrane;Apical cell membrane Diarrhea 1, secretory chloride, congenital Chloride/bicarbonate exchanger. Mediates the efficient absorption of chloride ions in the colon, participating in fluid homeostasis. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation. N-glycosylation is required for efficient cell surface expression, and protection from proteolytic degradation. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. Pancreatic secretion;Mineral absorption;Multifunctional anion exchangers;Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) PE1 7 +NX_P40925 Malate dehydrogenase, cytoplasmic 334 36426 6.91 0 Cytoplasm;Cytosol;Centrosome NA NA Acetylation at Lys-118 dramatically enhances enzymatic activity and promotes adipogenic differentiation.;ISGylated. Belongs to the LDH/MDH superfamily. MDH type 2 family. Citrate cycle (TCA cycle);Pyruvate metabolism;Glyoxylate and dicarboxylate metabolism;Metabolic pathways;Proximal tubule bicarbonate reclamation;Gluconeogenesis PE1 2 +NX_P40926 Malate dehydrogenase, mitochondrial 338 35503 8.92 0 Mitochondrion matrix;Mitochondrion Epileptic encephalopathy, early infantile, 51 NA Acetylation is enhanced by up to 67% after treatment either with trichostin A (TSA) or with nicotinamide (NAM) with the appearance of tri- and tetraacetylations. Glucose also increases acetylation by about 60%.;MDH2 is phosphorylated by MAPK3 Belongs to the LDH/MDH superfamily. MDH type 1 family. Citrate cycle (TCA cycle);Pyruvate metabolism;Glyoxylate and dicarboxylate metabolism;Metabolic pathways;Citric acid cycle (TCA cycle);Gluconeogenesis PE1 7 +NX_P40933 Interleukin-15 162 18086 5.13 0 Cytoplasm;Nucleus speckle;Secreted;Nucleoplasm;Nucleus NA Cytokine that stimulates the proliferation of T-lymphocytes (PubMed:8178155). Stimulation by IL15 requires interaction of IL15 with components of the IL2 receptor, including IL2RB and probably IL2RG but not IL2RA (PubMed:8178155). In neutrophils, stimulates phagocytosis probably by signaling through the IL15 receptor, composed of the subunits IL15RA, IL2RB and IL2RG, which results in kinase SYK activation (PubMed:15123770). NA Belongs to the IL-15/IL-21 family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Intestinal immune network for IgA production;HTLV-I infection;Herpes simplex infection;Rheumatoid arthritis;Interleukin-15 signaling PE1 4 +NX_P40937 Replication factor C subunit 5 340 38497 6.72 0 Nucleoplasm;Nucleus NA The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. NA Belongs to the activator 1 small subunits family. DNA replication;Nucleotide excision repair;Mismatch repair;Translesion Synthesis by POLH;Activation of ATR in response to replication stress;G2/M DNA damage checkpoint;Translesion synthesis by POLI;Termination of translesion DNA synthesis;Translesion synthesis by REV1;Translesion synthesis by POLK;PCNA-Dependent Long Patch Base Excision Repair;Recognition of DNA damage by PCNA-containing replication complex;Polymerase switching on the C-strand of the telomere;Polymerase switching;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER;Regulation of TP53 Activity through Phosphorylation PE1 12 +NX_P40938 Replication factor C subunit 3 356 40556 8.66 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. NA Belongs to the activator 1 small subunits family. DNA replication;Nucleotide excision repair;Mismatch repair;Translesion Synthesis by POLH;Activation of ATR in response to replication stress;G2/M DNA damage checkpoint;Translesion synthesis by POLI;Termination of translesion DNA synthesis;Translesion synthesis by REV1;Translesion synthesis by POLK;PCNA-Dependent Long Patch Base Excision Repair;Recognition of DNA damage by PCNA-containing replication complex;Polymerase switching on the C-strand of the telomere;Polymerase switching;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER;Regulation of TP53 Activity through Phosphorylation PE1 13 +NX_P40939 Trifunctional enzyme subunit alpha, mitochondrial 763 83000 9.16 0 Mitochondrion inner membrane;Mitochondrion Mitochondrial trifunctional protein deficiency;Long-chain 3-hydroxyl-CoA dehydrogenase deficiency;Maternal acute fatty liver of pregnancy Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway (PubMed:8135828, PubMed:1550553, PubMed:29915090, PubMed:30850536). The mitochondrial beta-oxidation pathway is the major energy-producing process in tissues and is performed through four consecutive reactions breaking down fatty acids into acetyl-CoA (PubMed:29915090). Among the enzymes involved in this pathway, the trifunctional enzyme exhibits specificity for long-chain fatty acids (PubMed:30850536). Mitochondrial trifunctional enzyme is a heterotetrameric complex composed of two proteins, the trifunctional enzyme subunit alpha/HADHA described here carries the 2,3-enoyl-CoA hydratase and the 3-hydroxyacyl-CoA dehydrogenase activities while the trifunctional enzyme subunit beta/HADHB bears the 3-ketoacyl-CoA thiolase activity (PubMed:8135828, PubMed:29915090, PubMed:30850536). Independently of the subunit beta, the trifunctional enzyme subunit alpha/HADHA also has a monolysocardiolipin acyltransferase activity (PubMed:23152787). It acylates monolysocardiolipin into cardiolipin, a major mitochondrial membrane phospholipid which plays a key role in apoptosis and supports mitochondrial respiratory chain complexes in the generation of ATP (PubMed:23152787). Allows the acylation of monolysocardiolipin with different acyl-CoA substrates including oleoyl-CoA for which it displays the highest activity (PubMed:23152787). NA In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.;In the central section; belongs to the 3-hydroxyacyl-CoA dehydrogenase family. Lipid metabolism; fatty acid beta-oxidation.;Fatty acid elongation;Fatty acid metabolism;Valine, leucine and isoleucine degradation;Lysine degradation;Tryptophan metabolism;beta-Alanine metabolism;Propanoate metabolism;Butanoate metabolism;Biosynthesis of unsaturated fatty acids;Metabolic pathways;mitochondrial fatty acid beta-oxidation of unsaturated fatty acids;Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA;Beta oxidation of octanoyl-CoA to hexanoyl-CoA;Beta oxidation of hexanoyl-CoA to butanoyl-CoA;Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA;Beta oxidation of palmitoyl-CoA to myristoyl-CoA;Acyl chain remodeling of CL;Beta oxidation of myristoyl-CoA to lauroyl-CoA PE1 2 +NX_P40967 Melanocyte protein PMEL 661 70255 5.37 1 Golgi apparatus;Endoplasmic reticulum membrane;Secreted;Endoplasmic reticulum;Melanosome;Multivesicular body NA Plays a central role in the biogenesis of melanosomes. Involved in the maturation of melanosomes from stage I to II. The transition from stage I melanosomes to stage II melanosomes involves an elongation of the vesicle, and the appearance within of distinct fibrillar structures. Release of the soluble form, ME20-S, could protect tumor cells from antibody mediated immunity. N-glycosylated. O-glycosylated; contains sialic acid.;A small amount of P1/P100 (major form) undergoes glycosylation to yield P2/P120 (minor form). P2 is cleaved by a furin-like proprotein convertase (PC) in a pH-dependent manner in a post-Golgi, prelysosomal compartment into two disulfide-linked subunits: a large lumenal subunit, M-alpha/ME20-S, and an integral membrane subunit, M-beta. Despite cleavage, only a small fraction of M-alpha is secreted, whereas most M-alpha and M-beta remain associated with each other intracellularly. M-alpha is further processed to M-alpha N and M-alpha C. M-alpha C further undergoes processing to yield M-alpha C1 and M-alpha C3 (M-alpha C2 in the case of PMEL17-is or PMEL17-ls). Formation of intralumenal fibrils in the melanosomes requires the formation of M-alpha that becomes incorporated into the fibrils. Stage II melanosomes harbor only Golgi-modified Pmel17 fragments that are derived from M-alpha and that bear sialylated O-linked oligosaccharides. Belongs to the PMEL/NMB family. NA PE1 12 +NX_P41002 Cyclin-F 786 87640 5.92 0 Centrosome;Nucleus;Centriole NA Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of CP110 during G2 phase, thereby acting as an inhibitor of centrosome reduplication. Degraded when the spindle assembly checkpoint is activated during the G2-M transition. Degradation is not dependent on the proteasome or ubiquitin and depends on the C-terminal PEST sequence.;Phosphorylated just before cells enter into mitosis. Belongs to the cyclin family. Cyclin AB subfamily. Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 16 +NX_P41091 Eukaryotic translation initiation factor 2 subunit 3 472 51109 8.66 0 NA MEHMO syndrome As a subunit of eukaryotic initiation factor 2 (eIF2), involved in the early steps of protein synthesis. In the presence of GTP, eIF2 forms a ternary complex with initiator tRNA Met-tRNAi and then recruits the 40S ribosomal complex, a step that determines the rate of protein translation. This step is followed by mRNA binding to form the 43S pre-initiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF2 and release of an eIF2-GDP binary complex. In order for eIF2 to recycle and catalyze another round of initiation, the GDP bound to eIF2 must exchange with GTP by way of a reaction catalyzed by eIF2B (By similarity). Along with its paralog on chromosome Y, may contribute to spermatogenesis up to the round spermatid stage (By similarity). NA Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EIF2G subfamily. RNA transport;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Recycling of eIF2:GDP;ABC-family proteins mediated transport;PERK regulates gene expression PE1 X +NX_P41134 DNA-binding protein inhibitor ID-1 155 16133 6.57 0 Cytoplasm;Nucleoplasm;Nucleus NA Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Inhibits skeletal muscle and cardiac myocyte differentiation. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer (By similarity). NA NA TGF-beta signaling pathway;Oncogene Induced Senescence PE1 20 +NX_P41143 Delta-type opioid receptor 372 40369 9.21 7 Cell membrane NA G-protein coupled receptor that functions as receptor for endogenous enkephalins and for a subset of other opioids. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling leads to the inhibition of adenylate cyclase activity. Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Plays a role in the perception of pain and in opiate-mediated analgesia. Plays a role in developing analgesic tolerance to morphine. N-glycosylated.;Ubiquitinated. A basal ubiquitination seems not to be related to degradation. Ubiquitination is increased upon formation of OPRM1:OPRD1 oligomers leading to proteasomal degradation; the ubiquitination is diminished by RTP4. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors;Interleukin-4 and Interleukin-13 signaling PE1 1 +NX_P41145 Kappa-type opioid receptor 380 42645 7.92 7 Nucleoplasm;Cytosol;Cell membrane NA G-protein coupled opioid receptor that functions as receptor for endogenous alpha-neoendorphins and dynorphins, but has low affinity for beta-endorphins. Also functions as receptor for various synthetic opioids and for the psychoactive diterpene salvinorin A. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling leads to the inhibition of adenylate cyclase activity. Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Plays a role in the perception of pain. Plays a role in mediating reduced physical activity upon treatment with synthetic opioids. Plays a role in the regulation of salivation in response to synthetic opioids. May play a role in arousal and regulation of autonomic and neuroendocrine functions. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors;MECP2 regulates neuronal receptors and channels PE1 8 +NX_P41146 Nociceptin receptor 370 40693 8.74 7 Cytoplasmic vesicle;Cell membrane NA G-protein coupled opioid receptor that functions as receptor for the endogenous neuropeptide nociceptin. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling via G proteins mediates inhibition of adenylate cyclase activity and calcium channel activity. Arrestins modulate signaling via G proteins and mediate the activation of alternative signaling pathways that lead to the activation of MAP kinases. Plays a role in modulating nociception and the perception of pain. Plays a role in the regulation of locomotor activity by the neuropeptide nociceptin. Phosphorylation at Ser-363 requires GRK3. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors PE1 20 +NX_P41159 Leptin 167 18641 5.88 0 Secreted Leptin deficiency Key player in the regulation of energy balance and body weight control. Once released into the circulation, has central and peripheral effects by binding LEPR, found in many tissues, which results in the activation of several major signaling pathways (PubMed:17344214, PubMed:15899045, PubMed:19688109). In the hypothalamus, acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones. In the periphery, increases basal metabolism, influences reproductive function, regulates pancreatic beta-cell function and insulin secretion, is pro-angiogenic for endothelial cell and affects innate and adaptive immunity (By similarity) (PubMed:8589726, PubMed:11460888, PubMed:19688109, PubMed:24340098, PubMed:25060689). In the arcuate nucleus of the hypothalamus, activates by depolarization POMC neurons inducing FOS and SOCS3 expression to release anorexigenic peptides and inhibits by hyperpolarization NPY neurons inducing SOCS3 with a consequent reduction on release of orexigenic peptides (By similarity). In addition to its known satiety inducing effect, has a modulatory role in nutrient absorption. In the intestine, reduces glucose absorption by enterocytes by activating PKC and leading to a sequential activation of p38, PI3K and ERK signaling pathways which exerts an inhibitory effect on glucose absorption (PubMed:24340098). Acts as a growth factor on certain tissues, through the activation of different signaling pathways increases expression of genes involved in cell cycle regulation such as CCND1, via JAK2-STAT3 pathway, or VEGFA, via MAPK1/3 and PI3K-AKT1 pathways (By similarity) (PubMed:17344214). May also play an apoptotic role via JAK2-STAT3 pathway and up-regulation of BIRC5 expression (PubMed:18242580). Pro-angiogenic, has mitogenic activity on vascular endothelial cells and plays a role in matrix remodeling by regulating the expression of matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) (PubMed:11460888). In innate immunity, modulates the activity and function of neutrophils by increasing chemotaxis and the secretion of oxygen radicals. Increases phagocytosis by macrophages and enhances secretion of pro-inflammatory mediators. Increases cytotoxic ability of NK cells (PubMed:12504075). Plays a pro-inflammatory role, in synergy with IL1B, by inducing NOS2 wich promotes the production of IL6, IL8 and Prostaglandin E2, through a signaling pathway that involves JAK2, PI3K, MAP2K1/MEK1 and MAPK14/p38 (PubMed:15899045, PubMed:19688109). In adaptive immunity, promotes the switch of memory T-cells towards T helper-1 cell immune responses (By similarity). Increases CD4(+)CD25(-) T-cell proliferation and reduces autophagy during TCR (T-cell receptor) stimulation, through MTOR signaling pathway activation and BCL2 up-regulation (PubMed:25060689). NA Belongs to the leptin family. Cytokine-cytokine receptor interaction;Neuroactive ligand-receptor interaction;Jak-STAT signaling pathway;Adipocytokine signaling pathway;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);Transcriptional regulation of white adipocyte differentiation;Synthesis, secretion, and deacylation of Ghrelin;Signaling by Leptin PE1 7 +NX_P41161 ETS translocation variant 5 510 57838 5.43 0 Nucleoplasm;Nucleus NA Binds to DNA sequences containing the consensus nucleotide core sequence 5'-GGAA.-3'. NA Belongs to the ETS family. NA PE1 3 +NX_P41162 ETS translocation variant 3 512 57001 8.73 0 Nucleoplasm;Nucleus NA Transcriptional repressor that contribute to growth arrest during terminal macrophage differentiation by repressing target genes involved in Ras-dependent proliferation. Represses MMP1 promoter activity. NA Belongs to the ETS family. NA PE1 1 +NX_P41180 Extracellular calcium-sensing receptor 1078 120675 5.62 7 Cell membrane Epilepsy, idiopathic generalized 8;Hypocalciuric hypercalcemia, familial 1;Hyperparathyroidism, neonatal severe;Hypocalcemia, autosomal dominant 1 G-protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis (PubMed:7759551, PubMed:8702647, PubMed:8636323, PubMed:8878438, PubMed:17555508, PubMed:19789209, PubMed:21566075, PubMed:22114145, PubMed:23966241, PubMed:25292184, PubMed:25104082, PubMed:26386835, PubMed:25766501, PubMed:22789683). Senses fluctuations in the circulating calcium concentration and modulates the production of parathyroid hormone (PTH) in parathyroid glands (By similarity). The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system (PubMed:7759551). The G-protein-coupled receptor activity is activated by a co-agonist mechanism: aromatic amino acids, such as Trp or Phe, act concertedly with divalent cations, such as calcium or magnesium, to achieve full receptor activation (PubMed:27434672, PubMed:27386547). N-glycosylated.;Ubiquitinated by RNF19A; which induces proteasomal degradation. Belongs to the G-protein coupled receptor 3 family. G alpha (i) signalling events;G alpha (q) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 3 +NX_P41181 Aquaporin-2 271 28837 6.44 6 Cell membrane;Basolateral cell membrane;trans-Golgi network membrane;Cytoplasmic vesicle membrane;Apical cell membrane Diabetes insipidus, nephrogenic, autosomal Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient (PubMed:8140421, PubMed:7524315, PubMed:7510718, PubMed:15509592). Plays an essential role in renal water homeostasis (PubMed:8140421, PubMed:7524315, PubMed:15509592). N-glycosylated.;Ser-256 phosphorylation is necessary and sufficient for expression at the apical membrane. Endocytosis is not phosphorylation-dependent. Belongs to the MIP/aquaporin (TC 1.A.8) family. Vasopressin-regulated water reabsorption;Vasopressin regulates renal water homeostasis via Aquaporins;Passive transport by Aquaporins PE1 12 +NX_P41182 B-cell lymphoma 6 protein 706 78846 8.28 0 Golgi apparatus;Nucleoplasm;Nucleus NA Transcriptional repressor mainly required for germinal center (GC) formation and antibody affinity maturation which has different mechanisms of action specific to the lineage and biological functions. Forms complexes with different corepressors and histone deacetylases to repress the transcriptional expression of different subsets of target genes. Represses its target genes by binding directly to the DNA sequence 5'-TTCCTAGAA-3' (BCL6-binding site) or indirectly by repressing the transcriptional activity of transcription factors. In GC B-cells, represses genes that function in differentiation, inflammation, apoptosis and cell cycle control, also autoregulates its transcriptional expression and up-regulates, indirectly, the expression of some genes important for GC reactions, such as AICDA, through the repression of microRNAs expression, like miR155. An important function is to allow GC B-cells to proliferate very rapidly in response to T-cell dependent antigens and tolerate the physiological DNA breaks required for immunglobulin class switch recombination and somatic hypermutation without inducing a p53/TP53-dependent apoptotic response. In follicular helper CD4(+) T-cells (T(FH) cells), promotes the expression of T(FH)-related genes but inhibits the differentiation of T(H)1, T(H)2 and T(H)17 cells. Also required for the establishment and maintenance of immunological memory for both T- and B-cells. Suppresses macrophage proliferation through competition with STAT5 for STAT-binding motifs binding on certain target genes, such as CCL2 and CCND2. In response to genotoxic stress, controls cell cycle arrest in GC B-cells in both p53/TP53-dependedent and -independent manners. Besides, also controls neurogenesis through the alteration of the composition of NOTCH-dependent transcriptional complexes at selective NOTCH targets, such as HES5, including the recruitment of the deacetylase SIRT1 and resulting in an epigenetic silencing leading to neuronal differentiation. Acetylated at Lys-379 by EP300 which inhibits the interaction with NuRD complex and the transcriptional repressor function. Deacetylated by HDAC- and SIR2-dependent pathways.;Phosphorylated by MAPK1 in response to antigen receptor activation at Ser-333 and Ser-343. Phosphorylated by ATM in response to genotoxic stress. Phosphorylation induces its degradation by ubiquitin/proteasome pathway.;Polyubiquitinated (PubMed:9649500, PubMed:22113614, PubMed:30190310). Polyubiquitinated by SCF(FBXO11), leading to its degradation by the proteasome (PubMed:22113614). Ubiquitinated by the SCF(FBXL17) complex, leading to its degradation by the proteaseome: ubiquitination by the SCF(FBXL17) complex takes place when aberrant BTB domain dimers are formed (PubMed:30190310). NA TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain;Interleukin-4 and Interleukin-13 signaling;FOXO-mediated transcription of cell death genes PE1 3 +NX_P41208 Centrin-2 172 19738 4.91 0 Cytoplasm;Nuclear pore complex;Centriole;Nucleus envelope;Centrosome;Nucleus NA Plays a fundamental role in microtubule organizing center structure and function. Required for centriole duplication and correct spindle formation. Has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CCP110.;Involved in global genome nucleotide excision repair (GG-NER) by acting as component of the XPC complex. Cooperatively with RAD23B appears to stabilize XPC. In vitro, stimulates DNA binding of the XPC:RAD23B dimer.;As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores.;The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition) complex. The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA helix such as single-stranded loops, mismatched bubbles or single-stranded overhangs. The orientation of XPC complex binding appears to be crucial for inducing a productive NER. XPC complex is proposed to recognize and to interact with unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequent scanning for lesions in the opposite strand in a 5'-to-3' direction by the NER machinery. Cyclobutane pyrimidine dimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC complex due to a low degree of structural perurbation. Instead they are detected by the UV-DDB complex which in turn recruits and cooperates with the XPC complex in the respective DNA repair. NA Belongs to the centrin family. Nucleotide excision repair;SUMOylation of DNA damage response and repair proteins;Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;DNA Damage Recognition in GG-NER;Formation of Incision Complex in GG-NER;AURKA Activation by TPX2 PE1 X +NX_P41212 Transcription factor ETV6 452 53000 6.95 0 Nucleolus;Nucleus;Cytosol Myeloproliferative disorder chronic with eosinophilia;Leukemia, acute myelogenous;Thrombocytopenia 5 Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation. Phosphorylation of Ser-257 by MAPK14 (p38) inhibits ETV6 transcriptional repression. Belongs to the ETS family. Dorso-ventral axis formation PE1 12 +NX_P41214 Eukaryotic translation initiation factor 2D 584 64706 7.56 0 Cytoplasm;Cytosol;Nucleus NA Translation initiation factor that is able to deliver tRNA to the P-site of the eukaryotic ribosome in a GTP-independent manner. The binding of Met-tRNA(I) occurs after the AUG codon finds its position in the P-site of 40S ribosomes, the situation that takes place during initiation complex formation on some specific RNAs. Its activity in tRNA binding with 40S subunits does not require the presence of the aminoacyl moiety. Possesses the unique ability to deliver non-Met (elongator) tRNAs into the P-site of the 40S subunit. In addition to its role in initiation, can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated dissociation of post-termination ribosomal complexes into subunits. NA Belongs to the eIF2D family. NA PE1 1 +NX_P41217 OX-2 membrane glycoprotein 278 31264 8.78 1 Cell membrane NA Costimulates T-cell proliferation. May regulate myeloid cell activity in a variety of tissues. NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 3 +NX_P41218 Myeloid cell nuclear differentiation antigen 407 45836 9.76 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA May act as a transcriptional activator/repressor in the myeloid lineage. Plays a role in the granulocyte/monocyte cell-specific response to interferon. Stimulates the DNA binding of the transcriptional repressor protein YY1. NA NA Neutrophil degranulation PE1 1 +NX_P41219 Peripherin 470 53651 5.37 0 NA NA Class-III neuronal intermediate filament protein. NA Belongs to the intermediate filament family. Amyotrophic lateral sclerosis (ALS) PE1 12 +NX_P41220 Regulator of G-protein signaling 2 211 24382 9.05 0 Cytoplasm;Mitochondrion;Cell membrane;Nucleolus;Cytosol NA Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:11063746, PubMed:19478087). It is involved in the negative regulation of the angiotensin-activated signaling pathway (PubMed:28784619). Plays a role in the regulation of blood pressure in response to signaling via G protein-coupled receptors and GNAQ. Plays a role in regulating the constriction and relaxation of vascular smooth muscle (By similarity). Binds EIF2B5 and blocks its activity, thereby inhibiting the translation of mRNA into protein (PubMed:19736320). Phosphorylated by protein kinase C. Phosphorylation by PRKG1 leads to activation of RGS2 activity. NA G alpha (q) signalling events PE1 1 +NX_P41221 Protein Wnt-5a 380 42339 8.83 0 Extracellular matrix;Secreted Robinow syndrome, autosomal dominant 1 Ligand for members of the frizzled family of seven transmembrane receptors. Can activate or inhibit canonical Wnt signaling, depending on receptor context. In the presence of FZD4, activates beta-catenin signaling. In the presence of ROR2, inhibits the canonical Wnt pathway by promoting beta-catenin degradation through a GSK3-independent pathway which involves down-regulation of beta-catenin-induced reporter gene expression (By similarity). Suppression of the canonical pathway allows chondrogenesis to occur and inhibits tumor formation. Stimulates cell migration. Decreases proliferation, migration, invasiveness and clonogenicity of carcinoma cells and may act as a tumor suppressor (PubMed:15735754). Mediates motility of melanoma cells (PubMed:17426020). Required during embryogenesis for extension of the primary anterior-posterior axis and for outgrowth of limbs and the genital tubercle. Inhibits type II collagen expression in chondrocytes (By similarity). Proteolytic processing by TIKI1 and TIKI2 promotes oxidation and formation of large disulfide-bond oligomers, leading to inactivation of WNT5A.;Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition.;Glycosylation is necessary for secretion but not for activity. Belongs to the Wnt family. Wnt signaling pathway;Hedgehog signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;Asymmetric localization of PCP proteins;WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors);TCF dependent signaling in response to WNT;PCP/CE pathway;Ca2+ pathway;Negative regulation of TCF-dependent signaling by WNT ligand antagonists;WNT5A-dependent internalization of FZD4;WNT5A-dependent internalization of FZD2, FZD5 and ROR2;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 3 +NX_P41222 Prostaglandin-H2 D-isomerase 190 21029 7.66 0 Golgi apparatus;Secreted;Nucleus membrane;Rough endoplasmic reticulum;Perinuclear region NA Catalyzes the conversion of PGH2 to PGD2, a prostaglandin involved in smooth muscle contraction/relaxation and a potent inhibitor of platelet aggregation. Involved in a variety of CNS functions, such as sedation, NREM sleep and PGE2-induced allodynia, and may have an anti-apoptotic role in oligodendrocytes. Binds small non-substrate lipophilic molecules, including biliverdin, bilirubin, retinal, retinoic acid and thyroid hormone, and may act as a scavenger for harmful hydrophobic molecules and as a secretory retinoid and thyroid hormone transporter. Possibly involved in development and maintenance of the blood-brain, blood-retina, blood-aqueous humor and blood-testis barrier. It is likely to play important roles in both maturation and maintenance of the central nervous system and male reproductive system. N- and O-glycosylated. Both N-glycosylation recognition sites are almost quantitatively occupied by N-glycans of the biantennary complex type, with a considerable proportion of structures bearing a bisecting GlcNAc. N-glycan at Asn-78: dHex1Hex5HexNAc4. Agalacto structure as well as sialylated and nonsialylated oligosaccharides bearing alpha2-3- and/or alpha2-6-linked NeuNAc are present. Belongs to the calycin superfamily. Lipocalin family. Arachidonic acid metabolism;Metabolic pathways;Synthesis of Prostaglandins (PG) and Thromboxanes (TX) PE1 9 +NX_P41223 Protein BUD31 homolog 144 17000 9.1 0 Nucleoplasm;Centrosome;Nucleus;Cytoskeleton NA Involved in the pre-mRNA splicing process (PubMed:28502770, PubMed:28076346). May play a role as regulator of AR transcriptional activity; may increase AR transcriptional activity (PubMed:25091737). NA Belongs to the BUD31 (G10) family. Spliceosome;mRNA Splicing - Major Pathway PE1 7 +NX_P41225 Transcription factor SOX-3 446 45210 9.78 0 Nucleoplasm;Nucleus Panhypopituitarism X-linked;Hypoparathyroidism, X-linked;46,XX sex reversal 3;Mental retardation, X-linked, with isolated growth hormone deficiency Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity). NA NA Deactivation of the beta-catenin transactivating complex PE1 X +NX_P41226 Ubiquitin-like modifier-activating enzyme 7 1012 111694 5.64 0 Nucleoplasm;Cytosol;Cytoplasmic vesicle NA Activates ubiquitin by first adenylating with ATP its C-terminal glycine residue and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Catalyzes the ISGylation of influenza A virus NS1 protein. ISGylated. Belongs to the ubiquitin-activating E1 family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Parkinson's disease;Antigen processing: Ubiquitination & Proteasome degradation;ISG15 antiviral mechanism;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Negative regulators of DDX58/IFIH1 signaling;Termination of translesion DNA synthesis PE1 3 +NX_P41227 N-alpha-acetyltransferase 10 235 26459 5.41 0 Nucleolus;Cytoplasm;Cytosol;Nucleus N-terminal acetyltransferase deficiency;Microphthalmia, syndromic, 1 Catalytic subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity (PubMed:15496142, PubMed:19826488, PubMed:19420222, PubMed:20145209, PubMed:27708256, PubMed:25489052). Acetylates amino termini that are devoid of initiator methionine (PubMed:19420222). The alpha (N-terminal) acetyltransferase activity may be important for vascular, hematopoietic and neuronal growth and development. Without NAA15, displays epsilon (internal) acetyltransferase activity towards HIF1A, thereby promoting its degradation (PubMed:12464182). Represses MYLK kinase activity by acetylation, and thus represses tumor cell migration (PubMed:19826488). Acetylates, and stabilizes TSC2, thereby repressing mTOR activity and suppressing cancer development (PubMed:20145209). Acetylates HSPA1A and HSPA1B at 'Lys-77' which enhances its chaperone activity and leads to preferential binding to co-chaperone HOPX (PubMed:27708256). Acts as a negative regulator of sister chromatid cohesion during mitosis (PubMed:27422821). Cleaved by caspases during apoptosis.;Autoacetylated at Lys-136 which stimulates its catalytic activity.;Phosphorylation by IKBKB/IKKB at Ser-209 promotes its proteasome-mediated degradation. Belongs to the acetyltransferase family. ARD1 subfamily. NA PE1 X +NX_P41229 Lysine-specific demethylase 5C 1560 175720 5.44 0 Nucleoplasm;Cytosol;Nucleus Mental retardation, X-linked, syndromic, Claes-Jensen type Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code (PubMed:28262558). Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements. Represses the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity). NA Belongs to the JARID1 histone demethylase family. HDMs demethylate histones PE1 X +NX_P41231 P2Y purinoceptor 2 377 42273 9.72 7 Cytosol;Cell membrane NA Receptor for ATP and UTP coupled to G-proteins that activate a phosphatidylinositol-calcium second messenger system. The affinity range is UTP = ATP > ATP-gamma-S >> 2-methylthio-ATP = ADP. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (q) signalling events;P2Y receptors;Surfactant metabolism PE1 11 +NX_P41235 Hepatocyte nuclear factor 4-alpha 474 52785 7.15 0 Nucleoplasm;Nucleus Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young;Maturity-onset diabetes of the young 1;Diabetes mellitus, non-insulin-dependent Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes (PubMed:30597922). Activates the transcription of CYP2C38 (By similarity). Represses the CLOCK-ARNTL/BMAL1 transcriptional activity and is essential for circadian rhythm maintenance and period regulation in the liver and colon cells (PubMed:30530698). Phosphorylated on tyrosine residue(s); phosphorylation is important for its DNA-binding activity. Phosphorylation may directly or indirectly play a regulatory role in the subnuclear distribution. Phosphorylation at Ser-313 by AMPK reduces the ability to form homodimers and bind DNA.;Acetylation at Lys-458 lowers transcriptional activation by about two-fold. Belongs to the nuclear hormone receptor family. NR2 subfamily. Maturity onset diabetes of the young;Regulation of gene expression in beta cells;Nuclear Receptor transcription pathway PE1 20 +NX_P41236 Protein phosphatase inhibitor 2 205 23015 4.64 0 Cytoplasm;Nucleus NA Inhibitor of protein-phosphatase 1. Phosphorylation on Thr-73 by GSK3 activates PP1 by dissociating the PP1-PPP1R2 complex (By similarity). Phosphorylation on Ser-44 by ATM activates PP1 by dissociating the PP1-PPP1R2 complex. Belongs to the protein phosphatase inhibitor 2 family. NA PE1 3 +NX_P41238 C->U-editing enzyme APOBEC-1 236 28192 9.06 0 Cytoplasm NA Catalytic component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in the APOB mRNA. Also involved in CGA (Arg) to UGA (Stop) editing in the NF1 mRNA. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation. NA Belongs to the cytidine and deoxycytidylate deaminase family. mRNA Editing: C to U Conversion;Formation of the Editosome PE1 12 +NX_P41240 Tyrosine-protein kinase CSK 450 50704 6.62 0 Cytoplasmic vesicle;Cytoplasm;Cytosol;Cell membrane NA Non-receptor tyrosine-protein kinase that plays an important role in the regulation of cell growth, differentiation, migration and immune response. Phosphorylates tyrosine residues located in the C-terminal tails of Src-family kinases (SFKs) including LCK, SRC, HCK, FYN, LYN, CSK or YES1. Upon tail phosphorylation, Src-family members engage in intramolecular interactions between the phosphotyrosine tail and the SH2 domain that result in an inactive conformation. To inhibit SFKs, CSK is recruited to the plasma membrane via binding to transmembrane proteins or adapter proteins located near the plasma membrane. Suppresses signaling by various surface receptors, including T-cell receptor (TCR) and B-cell receptor (BCR) by phosphorylating and maintaining inactive several positive effectors such as FYN or LCK. Phosphorylated at Ser-364 by PKA, leading to increased activity. Autophosphorylated. Belongs to the protein kinase superfamily. Tyr protein kinase family. CSK subfamily. Epithelial cell signaling in Helicobacter pylori infection;Phosphorylation of CD3 and TCR zeta chains;PD-1 signaling;MAP2K and MAPK activation;Integrin alphaIIb beta3 signaling;GAB1 signalosome;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 15 +NX_P41247 Patatin-like phospholipase domain-containing protein 4 253 27980 9.21 0 Mitochondrion NA Lipid hydrolase. NA NA Retinol metabolism;Triglyceride catabolism PE1 X +NX_P41250 Glycine--tRNA ligase 739 83166 6.61 0 Extracellular exosome;Cytoplasm;Secreted;Cytosol;Axon Charcot-Marie-Tooth disease 2D;Neuronopathy, distal hereditary motor, 5A Catalyzes the ATP-dependent ligation of glycine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (Gly-AMP) (PubMed:17544401, PubMed:28675565, PubMed:24898252). Also produces diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. Thereby, may play a special role in Ap4A homeostasis (PubMed:19710017). NA Belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation;Cytosolic tRNA aminoacylation PE1 7 +NX_P41252 Isoleucine--tRNA ligase, cytoplasmic 1262 144498 5.82 0 Cytoplasm;Cytosol Growth retardation, impaired intellectual development, hypotonia, and hepatopathy Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. NA Belongs to the class-I aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Cytosolic tRNA aminoacylation;Selenoamino acid metabolism PE1 9 +NX_P41271 Neuroblastoma suppressor of tumorigenicity 1 181 19408 5.15 0 Secreted NA Possible candidate as a tumor suppressor gene of neuroblastoma. May play an important role in preventing cells from entering the final stage (G1/S) of the transformation process. NA Belongs to the DAN family. NA PE1 1 +NX_P41273 Tumor necrosis factor ligand superfamily member 9 254 26625 6.52 1 Membrane;Golgi apparatus NA Cytokine that binds to TNFRSF9. Induces the proliferation of activated peripheral blood T-cells. May have a role in activation-induced cell death (AICD). May play a role in cognate interactions between T-cells and B-cells/macrophages. NA Belongs to the tumor necrosis factor family. Cytokine-cytokine receptor interaction;TNFs bind their physiological receptors PE1 19 +NX_P41279 Mitogen-activated protein kinase kinase kinase 8 467 52925 5.54 0 Cytoplasm;Cytosol NA Required for lipopolysaccharide (LPS)-induced, TLR4-mediated activation of the MAPK/ERK pathway in macrophages, thus being critical for production of the proinflammatory cytokine TNF-alpha (TNF) during immune responses. Involved in the regulation of T-helper cell differentiation and IFNG expression in T-cells. Involved in mediating host resistance to bacterial infection through negative regulation of type I interferon (IFN) production. In vitro, activates MAPK/ERK pathway in response to IL1 in an IRAK1-independent manner, leading to up-regulation of IL8 and CCL4. Transduces CD40 and TNFRSF1A signals that activate ERK in B-cells and macrophages, and thus may play a role in the regulation of immunoglobulin production. May also play a role in the transduction of TNF signals that activate JNK and NF-kappa-B in some cell types. In adipocytes, activates MAPK/ERK pathway in an IKBKB-dependent manner in response to IL1B and TNF, but not insulin, leading to induction of lipolysis. Plays a role in the cell cycle.;Shows some transforming activity, although it is much weaker than that of the activated oncogenic variant. Autophosphorylated (PubMed:8226782, PubMed:1833717).;Undergoes phosphorylation mainly on Ser residues, and isoform 2 on both Ser and Thr residues (PubMed:8226782). Phosphorylated on Thr-290; the phosphorylation is necessary but not sufficient for full kinase activity in vitro and for the dissociation of isoform 1 from NFKB1, leading to its degradation (PubMed:15466476, PubMed:15699325). Phosphorylated on Ser-400 by IKBKB; the phosphorylation is required for LPS-stimulated activation of the MAPK/ERK pathway in macrophages (PubMed:17472361, PubMed:22988300). Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. MAPK signaling pathway;Toll-like receptor signaling pathway;T cell receptor signaling pathway;CD28 dependent PI3K/Akt signaling;MAP3K8 (TPL2)-dependent MAPK1/3 activation PE1 10 +NX_P41439 Folate receptor gamma 245 27885 7.86 0 Secreted NA Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells. NA Belongs to the folate receptor family. Endocytosis;Neutrophil degranulation PE1 11 +NX_P41440 Reduced folate transporter 591 64868 9.15 12 Basolateral cell membrane;Apical cell membrane;Cell membrane NA Transporter that mediates the import of reduced folates and a subset of cyclic dinucleotides (PubMed:7826387, PubMed:9041240, PubMed:10787414, PubMed:15337749, PubMed:16115875, PubMed:31126740). Has high affinity for N5-methyltetrahydrofolate, the predominant circulating form of folate (PubMed:10787414, PubMed:14609557, PubMed:22554803). Also able to mediate the import of antifolate drug methotrexate (PubMed:7615551, PubMed:7641195, PubMed:9767079, PubMed:22554803). Acts as an importer of cyclic GMP-AMP (2'-3'-cGAMP), an immune messenger produced in response to DNA virus in the cytosol, and its linkage isomer 3'-3'-cGAMP (PubMed:31126740). Mechanistically, acts as an antiporter, which export of intracellular organic anions to facilitate uptake of its substrates (PubMed:22554803). 5-amino-4-imidazolecarboxamide riboside (AICAR), when phosphorylated to AICAR monophosphate, can serve as an organic anion for antiporter activity (PubMed:22554803). NA Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. Vitamin digestion and absorption;Metabolism of folate and pterines PE1 21 +NX_P41567 Eukaryotic translation initiation factor 1 113 12732 6.9 0 NA NA Necessary for scanning and involved in initiation site selection. Promotes the assembly of 48S ribosomal complexes at the authentic initiation codon of a conventional capped mRNA. NA Belongs to the SUI1 family. RNA transport PE1 17 +NX_P41586 Pituitary adenylate cyclase-activating polypeptide type I receptor 468 53314 5.5 7 Cytoplasmic vesicle;Cell membrane NA This is a receptor for PACAP-27 and PACAP-38. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. May regulate the release of adrenocorticotropin, luteinizing hormone, growth hormone, prolactin, epinephrine, and catecholamine. May play a role in spermatogenesis and sperm motility. Causes smooth muscle relaxation and secretion in the gastrointestinal tract. NA Belongs to the G-protein coupled receptor 2 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Glucagon-type ligand receptors;NGF-independant TRKA activation PE1 7 +NX_P41587 Vasoactive intestinal polypeptide receptor 2 438 49479 8.29 7 Focal adhesion;Cell membrane NA This is a receptor for VIP as well as PACAP-38 and -27, the activity of this receptor is mediated by G proteins which activate adenylyl cyclase. Can be coupled to phospholipase C. NA Belongs to the G-protein coupled receptor 2 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Glucagon-type ligand receptors PE1 7 +NX_P41594 Metabotropic glutamate receptor 5 1212 132469 8.07 7 Cell membrane NA G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phosphatidylinositol-calcium second messenger system and generates a calcium-activated chloride current. Plays an important role in the regulation of synaptic plasticity and the modulation of the neural network activity. NA Belongs to the G-protein coupled receptor 3 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Gap junction;Long-term potentiation;Glutamatergic synapse;Long-term depression;Huntington's disease;G alpha (q) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors);Neurexins and neuroligins PE1 11 +NX_P41595 5-hydroxytryptamine receptor 2B 481 54298 9.22 7 Nucleoplasm;Cell membrane;Synaptosome NA G-protein coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:8143856, PubMed:7926008, PubMed:8078486, PubMed:8882600, PubMed:18703043, PubMed:23519210). Also functions as a receptor for various ergot alkaloid derivatives and psychoactive substances (PubMed:8143856, PubMed:7926008, PubMed:8078486, PubMed:12970106, PubMed:18703043, PubMed:23519210, PubMed:23519215, PubMed:24357322, PubMed:28129538). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors (PubMed:8143856, PubMed:8078486, PubMed:8882600, PubMed:23519215, PubMed:28129538). Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways (PubMed:23519215, PubMed:28129538). Signaling activates a phosphatidylinositol-calcium second messenger system that modulates the activity of phosphatidylinositol 3-kinase and down-stream signaling cascades and promotes the release of Ca(2+) ions from intracellular stores (PubMed:8143856, PubMed:8078486, PubMed:8882600, PubMed:18703043, PubMed:23519215, PubMed:28129538). Plays a role in the regulation of dopamine and 5-hydroxytryptamine release, 5-hydroxytryptamine uptake and in the regulation of extracellular dopamine and 5-hydroxytryptamine levels, and thereby affects neural activity. May play a role in the perception of pain (By similarity). Plays a role in the regulation of behavior, including impulsive behavior (PubMed:21179162). Required for normal proliferation of embryonic cardiac myocytes and normal heart development. Protects cardiomyocytes against apoptosis. Plays a role in the adaptation of pulmonary arteries to chronic hypoxia. Plays a role in vasoconstriction. Required for normal osteoblast function and proliferation, and for maintaining normal bone density. Required for normal proliferation of the interstitial cells of Cajal in the intestine (By similarity). NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Gap junction;G alpha (q) signalling events;Serotonin receptors PE1 2 +NX_P41597 C-C chemokine receptor type 2 374 41915 9.24 7 Cell membrane NA (Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection.;Key functional receptor for CCL2 but can also bind CCL7 and CCL12 (PubMed:8146186, PubMed:8048929, PubMed:23408426). Its binding with CCL2 on monocytes and macrophages mediates chemotaxis and migration induction through the activation of the PI3K cascade, the small G protein Rac and lamellipodium protrusion (Probable). Also acts as a receptor for the beta-defensin DEFB106A/DEFB106B (PubMed:23938203). Regulates the expression of T-cell inflammatory cytokines and T-cell differentiation, promoting the differentiation of T-cells into T-helper 17 cells (Th17) during inflammation (By similarity). Facilitates the export of mature thymocytes by enhancing directional movement of thymocytes to sphingosine-1-phosphate stimulation and up-regulation of S1P1R expression; signals through the JAK-STAT pathway to regulate FOXO1 activity leading to an increased expression of S1P1R (By similarity). Plays an important role in mediating peripheral nerve injury-induced neuropathic pain (By similarity). Increases NMDA-mediated synaptic transmission in both dopamine D1 and D2 receptor-containing neurons, which may be caused by MAPK/ERK-dependent phosphorylation of GRIN2B/NMDAR2B (By similarity). Mediates the recruitment of macrophages and monocytes to the injury site following brain injury (By similarity). Sulfation increases the affinity for both monomeric and dimeric CCL2 with stronger binding to the monomeric form (PubMed:11046064, PubMed:23408426). Binding of sulfated CCR2 to CCL2 promotes conversion of CCL2 from dimer to monomer (PubMed:11046064, PubMed:23408426).;N-glycosylated. Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines;Beta defensins;Interleukin-10 signaling PE1 3 +NX_P41732 Tetraspanin-7 249 27574 6.86 4 Membrane Mental retardation, X-linked 58 May be involved in cell proliferation and cell motility. NA Belongs to the tetraspanin (TM4SF) family. Cell surface interactions at the vascular wall;Trafficking of GluR2-containing AMPA receptors PE1 X +NX_P41743 Protein kinase C iota type 596 68262 5.54 0 Cytoplasm;Membrane;Endosome;Cytosol;Nucleus;Cytoskeleton NA Calcium- and diacylglycerol-independent serine/ threonine-protein kinase that plays a general protective role against apoptotic stimuli, is involved in NF-kappa-B activation, cell survival, differentiation and polarity, and contributes to the regulation of microtubule dynamics in the early secretory pathway. Is necessary for BCR-ABL oncogene-mediated resistance to apoptotic drug in leukemia cells, protecting leukemia cells against drug-induced apoptosis. In cultured neurons, prevents amyloid beta protein-induced apoptosis by interrupting cell death process at a very early step. In glioblastoma cells, may function downstream of phosphatidylinositol 3-kinase (PI(3)K) and PDPK1 in the promotion of cell survival by phosphorylating and inhibiting the pro-apoptotic factor BAD. Can form a protein complex in non-small cell lung cancer (NSCLC) cells with PARD6A and ECT2 and regulate ECT2 oncogenic activity by phosphorylation, which in turn promotes transformed growth and invasion. In response to nerve growth factor (NGF), acts downstream of SRC to phosphorylate and activate IRAK1, allowing the subsequent activation of NF-kappa-B and neuronal cell survival. Functions in the organization of the apical domain in epithelial cells by phosphorylating EZR. This step is crucial for activation and normal distribution of EZR at the early stages of intestinal epithelial cell differentiation. Forms a protein complex with LLGL1 and PARD6B independently of PARD3 to regulate epithelial cell polarity. Plays a role in microtubule dynamics in the early secretory pathway through interaction with RAB2A and GAPDH and recruitment to vesicular tubular clusters (VTCs). In human coronary artery endothelial cells (HCAEC), is activated by saturated fatty acids and mediates lipid-induced apoptosis. Involved in early synaptic long term potentiation phase in CA1 hippocampal cells and short term memory formation (By similarity). Phosphorylation at Thr-412 in the activation loop is not mandatory for activation (By similarity). Upon neuronal growth factor (NGF) stimulation, phosphorylated by SRC at Tyr-265, Tyr-280 and Tyr-334 (PubMed:11713277, PubMed:16452474). Phosphorylation at Tyr-265 facilitates binding to KPNB1/importin-beta regulating entry of PRKCI into the nucleus (PubMed:11891849). Phosphorylation on Tyr-334 is important for NF-kappa-B stimulation (PubMed:11713277). Phosphorylated at Thr-564 during the initial phase of long term potentiation (By similarity). Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily. Endocytosis;Tight junction;Insulin signaling pathway;Tight junction interactions;p75NTR recruits signalling complexes;Pre-NOTCH Transcription and Translation PE1 3 +NX_P41968 Melanocortin receptor 3 323 36043 6.34 7 Cell membrane NA Receptor for MSH (alpha, beta and gamma) and ACTH. This receptor is mediated by G proteins which activate adenylate cyclase. Required for expression of anticipatory patterns of activity and wakefulness during periods of limited nutrient availability and for the normal regulation of circadian clock activity in the brain. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Peptide ligand-binding receptors;G alpha (s) signalling events PE1 20 +NX_P41970 ETS domain-containing protein Elk-3 407 44240 9.04 0 Nucleoplasm;Mitochondrion;Nucleus NA May be a negative regulator of transcription, but can activate transcription when coexpressed with Ras, Src or Mos. Forms a ternary complex with the serum response factor and the ETS and SRF motifs of the Fos serum response element. NA Belongs to the ETS family. NA PE1 12 +NX_P42025 Beta-centractin 376 42293 5.98 0 Cytoplasm;Centrosome;Cytoskeleton NA Component of a multi-subunit complex involved in microtubule based vesicle motility. It is associated with the centrosome. NA Belongs to the actin family. ARP1 subfamily. MHC class II antigen presentation;Neutrophil degranulation PE1 2 +NX_P42081 T-lymphocyte activation antigen CD86 329 37682 6.46 1 Cell membrane NA (Microbial infection) Acts as a receptor for adenovirus subgroup B.;Receptor involved in the costimulatory signal essential for T-lymphocyte proliferation and interleukin-2 production, by binding CD28 or CTLA-4. May play a critical role in the early events of T-cell activation and costimulation of naive T-cells, such as deciding between immunity and anergy that is made by T-cells within 24 hours after activation.;Interferes with the formation of CD86 clusters, and thus acts as a negative regulator of T-cell activation. Polyubiquitinated; which is promoted by MARCH8 and results in endocytosis and lysosomal degradation. NA Cell adhesion molecules (CAMs);Toll-like receptor signaling pathway;Intestinal immune network for IgA production;Type I diabetes mellitus;Autoimmune thyroid disease;Systemic lupus erythematosus;Rheumatoid arthritis;Allograft rejection;Graft-versus-host disease;Viral myocarditis;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;CD28 dependent PI3K/Akt signaling;CD28 co-stimulation;CD28 dependent Vav1 pathway;CTLA4 inhibitory signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Interleukin-10 signaling PE1 3 +NX_P42126 Enoyl-CoA delta isomerase 1, mitochondrial 302 32816 8.8 0 Mitochondrion matrix;Mitochondrion NA Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species. NA Belongs to the enoyl-CoA hydratase/isomerase family. Lipid metabolism; fatty acid beta-oxidation.;Fatty acid metabolism;mitochondrial fatty acid beta-oxidation of unsaturated fatty acids PE1 16 +NX_P42127 Agouti-signaling protein 132 14515 9.78 0 Cytoplasmic vesicle;Secreted NA Involved in the regulation of melanogenesis. The binding of ASP to MC1R precludes alpha-MSH initiated signaling and thus blocks production of cAMP, leading to a down-regulation of eumelanogenesis (brown/black pigment) and thus increasing synthesis of pheomelanin (yellow/red pigment). In higher primates, agouti may affect the quality of hair pigmentation rather than its pattern of deposition. Could well play a role in neuroendocrine aspects of melanocortin action. May have some functional role in regulating the lipid metabolism with adipocytes. NA NA Melanogenesis PE1 20 +NX_P42166 Lamina-associated polypeptide 2, isoform alpha 694 75492 7.56 0 Nucleus;Nucleus membrane;Chromosome NA TP and TP5 may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide.;May be involved in the structural organization of the nucleus and in the post-mitotic nuclear assembly. Plays an important role, together with LMNA, in the nuclear anchorage of RB1. Phosphorylated in a mitose-specific manner. Belongs to the LEM family. NA PE1 12 +NX_P42167 Lamina-associated polypeptide 2, isoforms beta/gamma 454 50670 9.39 1 Cytoplasm;Nucleus inner membrane NA Thymopoietin (TP) and Thymopentin (TP5) may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide.;May help direct the assembly of the nuclear lamina and thereby help maintain the structural organization of the nuclear envelope. Possible receptor for attachment of lamin filaments to the inner nuclear membrane. May be involved in the control of initiation of DNA replication through its interaction with NAKAP95. Citrullinated by PADI4.;Mitosis-specific phosphorylation specifically abolishes its binding to lamin B and chromosomes. Belongs to the LEM family. Initiation of Nuclear Envelope Reformation;Depolymerisation of the Nuclear Lamina;Nuclear Envelope Breakdown PE1 12 +NX_P42224 Signal transducer and activator of transcription 1-alpha/beta 750 87335 5.74 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus Immunodeficiency 31C;Immunodeficiency 31A;Immunodeficiency 31B Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors. Following type I IFN (IFN-alpha and IFN-beta) binding to cell surface receptors, signaling via protein kinases leads to activation of Jak kinases (TYK2 and JAK1) and to tyrosine phosphorylation of STAT1 and STAT2. The phosphorylated STATs dimerize and associate with ISGF3G/IRF-9 to form a complex termed ISGF3 transcription factor, that enters the nucleus (PubMed:28753426). ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of IFN-stimulated genes (ISG), which drive the cell in an antiviral state. In response to type II IFN (IFN-gamma), STAT1 is tyrosine- and serine-phosphorylated (PubMed:26479788). It then forms a homodimer termed IFN-gamma-activated factor (GAF), migrates into the nucleus and binds to the IFN gamma activated sequence (GAS) to drive the expression of the target genes, inducing a cellular antiviral state. Becomes activated in response to KITLG/SCF and KIT signaling. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4. ISGylated.;Sumoylated with SUMO1, SUMO2 and SUMO3. Sumoylation is enhanced by IFN-gamma-induced phosphorylation on Ser-727, and by interaction with PIAS proteins. Enhances the transactivation activity.;Mono-ADP-ribosylated at Glu-657 and Glu-705 by PARP14; ADP-ribosylation prevents phosphorylation at Tyr-701 (PubMed:27796300). However, the role of ADP-ribosylation in the prevention of phosphorylation has been called into question and the lack of phosphorylation may be due to sumoylation of Lys-703 (PubMed:29858569).;Phosphorylated on tyrosine and serine residues in response to a variety of cytokines/growth hormones including IFN-alpha, IFN-gamma, PDGF and EGF. Activated KIT promotes phosphorylation on tyrosine residues and subsequent translocation to the nucleus. Upon EGF stimulation, phosphorylation on Tyr-701 (lacking in beta form) by JAK1, JAK2 or TYK2 promotes dimerization and subsequent translocation to the nucleus. Growth hormone (GH) activates STAT1 signaling only via JAK2. Tyrosine phosphorylated in response to constitutively activated FGFR1, FGFR2, FGFR3 and FGFR4. Phosphorylation on Ser-727 by several kinases including MAPK14, ERK1/2 and CAMKII on IFN-gamma stimulation, regulates STAT1 transcriptional activity. Phosphorylation on Ser-727 promotes sumoylation though increasing interaction with PIAS. Phosphorylation on Ser-727 by PRKCD induces apoptosis in response to DNA-damaging agents. Phosphorylated on tyrosine residues when PTK2/FAK1 is activated; most likely this is catalyzed by a SRC family kinase. Dephosphorylation on tyrosine residues by PTPN2 negatively regulates interferon-mediated signaling. Upon viral infection or IFN induction, phosphorylation on Ser-708 occurs much later than phosphorylation on Tyr-701 and is required for the binding of ISGF3 on the ISREs of a subset of IFN-stimulated genes IKBKE-dependent. Phosphorylation at Tyr-701 and Ser-708 are mutually exclusive, phosphorylation at Ser-708 requires previous dephosphorylation of Tyr-701.;Monomethylated at Lys-525 by SETD2; monomethylation is necessary for phosphorylation at Tyr-701, translocation into the nucleus and activation of the antiviral defense.;STAT1 is phosphorylated by BMX (Phosphotyrosine:PTM-0255);STAT1 is phosphorylated by FGFR4 Belongs to the transcription factor STAT family. Chemokine signaling pathway;Osteoclast differentiation;Toll-like receptor signaling pathway;Jak-STAT signaling pathway;Leishmaniasis;Toxoplasmosis;Tuberculosis;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Pathways in cancer;Pancreatic cancer;ISG15 antiviral mechanism;Interferon gamma signaling;Interferon alpha/beta signaling;Regulation of IFNA signaling;Growth hormone receptor signaling;Signaling by SCF-KIT;Signaling by cytosolic FGFR1 fusion mutants;Regulation of IFNG signaling;Interleukin-6 signaling;Downstream signal transduction;Interleukin-20 family signaling;Interleukin-4 and Interleukin-13 signaling;Regulation of RUNX2 expression and activity;Interleukin-35 Signalling;Interleukin-9 signaling;NOTCH3 Intracellular Domain Regulates Transcription;Interleukin-21 signaling;Interleukin-27 signaling PE1 2 +NX_P42226 Signal transducer and activator of transcription 6 847 94135 5.84 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Carries out a dual function: signal transduction and activation of transcription. Involved in IL4/interleukin-4- and IL3/interleukin-3-mediated signaling. Mono-ADP-ribosylated by PARP14.;Tyrosine phosphorylated on Tyr-641 following stimulation by IL4/interleukin-4 (PubMed:27796300). Tyrosine phosphorylated following stimulation by IL3/interleukin-3 (By similarity). Dephosphorylation on tyrosine residues by PTPN2 negatively regulates the IL4/interleukin-4 mediated signaling (PubMed:17210636). Belongs to the transcription factor STAT family. Jak-STAT signaling pathway;STAT6-mediated induction of chemokines;Downstream signal transduction;Interleukin-4 and Interleukin-13 signaling PE1 12 +NX_P42229 Signal transducer and activator of transcription 5A 794 90647 5.98 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Mediates cellular responses to ERBB4. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4. Binds to the GAS element and activates PRL-induced transcription. Regulates the expression of milk proteins during lactation. ISGylated.;Tyrosine phosphorylated in response to KITLG/SCF, IL2, IL3, IL7, IL15, CSF2/GMCSF, GH1, PRL, EPO and THPO (By similarity). Activated KIT promotes phosphorylation on tyrosine residues and subsequent translocation to the nucleus (PubMed:21135090). Tyrosine phosphorylated in response to constitutively activated FGFR1, FGFR2, FGFR3 and FGFR4 (By similarity). Tyrosine phosphorylation is required for DNA-binding activity and dimerization. Serine phosphorylation is also required for maximal transcriptional activity (By similarity). Tyrosine phosphorylated in response to signaling via activated FLT3; wild-type FLT3 results in much weaker phosphorylation than constitutively activated mutant FLT3 (PubMed:14504097). Alternatively, can be phosphorylated by JAK2 at Tyr-694 (PubMed:12529425).;STAT5A is phosphorylated by FLT3;STAT5A is phosphorylated by BMX (Phosphotyrosine:PTM-0255) Belongs to the transcription factor STAT family. ErbB signaling pathway;Jak-STAT signaling pathway;Measles;HTLV-I infection;Pathways in cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Interleukin-7 signaling;Nuclear signaling by ERBB4;Prolactin receptor signaling;Growth hormone receptor signaling;Signaling by SCF-KIT;Signaling by cytosolic FGFR1 fusion mutants;Interleukin-3, Interleukin-5 and GM-CSF signaling;Signaling by Leptin;Downstream signal transduction;Interleukin-20 family signaling;Interleukin-15 signaling;Interleukin-9 signaling;Interleukin-2 signaling;Interleukin-21 signaling;Erythropoietin activates STAT5;STAT5 Activation PE1 17 +NX_P42261 Glutamate receptor 1 906 101506 7.79 3 Dendritic spine;Endoplasmic reticulum membrane;Cell membrane;Postsynaptic cell membrane;Recycling endosome membrane;Postsynaptic density membrane;Early endosome membrane;Dendrite NA Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate. Palmitoylated. Depalmitoylated upon glutamate stimulation. Cys-603 palmitoylation leads to Golgi retention and decreased cell surface expression. In contrast, Cys-829 palmitoylation does not affect cell surface expression but regulates stimulation-dependent endocytosis (By similarity).;Phosphorylated at Ser-645. Phosphorylated at Ser-710 by PKC. Phosphorylated at Ser-849 by PKC, PKA and CAMK2. Phosphorylated at Ser-863 by PKC, PKA and PRKG2 (By similarity). Phosphorylation of Ser-863 is reduced by induction of long-term depression and increased by induction of long-term potentiation (By similarity). Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIA1 subfamily. Neuroactive ligand-receptor interaction;Long-term potentiation;Glutamatergic synapse;Dopaminergic synapse;Long-term depression;Amyotrophic lateral sclerosis (ALS);Unblocking of NMDA receptors, glutamate binding and activation;Trafficking of AMPA receptors;COPII-mediated vesicle transport;Trafficking of GluR2-containing AMPA receptors;Activation of AMPA receptors;Cargo concentration in the ER;Synaptic adhesion-like molecules;Long-term potentiation PE1 5 +NX_P42262 Glutamate receptor 2 883 98821 7.48 3 Postsynaptic cell membrane;Endoplasmic reticulum membrane;Cell membrane NA Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate. Through complex formation with NSG1, GRIP1 and STX12 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity). Palmitoylated. Depalmitoylated upon glutamate stimulation. Cys-610 palmitoylation leads to Golgi retention and decreased cell surface expression. In contrast, Cys-836 palmitoylation does not affect cell surface expression but regulates stimulation-dependent endocytosis (By similarity). Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIA2 subfamily. Neuroactive ligand-receptor interaction;Long-term potentiation;Glutamatergic synapse;Dopaminergic synapse;Long-term depression;Amyotrophic lateral sclerosis (ALS);Unblocking of NMDA receptors, glutamate binding and activation;Trafficking of GluR2-containing AMPA receptors;Activation of AMPA receptors;MECP2 regulates neuronal receptors and channels;Long-term potentiation PE1 4 +NX_P42263 Glutamate receptor 3 894 101157 8.72 3 Postsynaptic cell membrane;Cell membrane Mental retardation, X-linked 94 Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate. Palmitoylated. Depalmitoylated upon glutamate stimulation. Cys-621 palmitoylation leads to Golgi retention and decreased cell surface expression. In contrast, Cys-847 palmitoylation does not affect cell surface expression but regulates stimulation-dependent endocytosis (By similarity). Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIA3 subfamily. Neuroactive ligand-receptor interaction;Glutamatergic synapse;Dopaminergic synapse;Long-term depression;Unblocking of NMDA receptors, glutamate binding and activation;Trafficking of AMPA receptors;Trafficking of GluR2-containing AMPA receptors;Activation of AMPA receptors;Synaptic adhesion-like molecules PE1 X +NX_P42285 Exosome RNA helicase MTR4 1042 117805 6.12 0 Nucleoplasm;Nucleolus;Nucleus speckle;Nucleus NA Component of exosome targeting complexes. Subunit of the trimeric nuclear exosome targeting (NEXT) complex, a complex that directs a subset of non-coding short-lived RNAs for exosomal degradation. Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters (PubMed:27871484). Associated with the RNA exosome complex and involved in the 3'-processing of the 7S pre-RNA to the mature 5.8S rRNA (PubMed:17412707, PubMed:29107693). May be involved in pre-mRNA splicing. NA Belongs to the helicase family. SKI2 subfamily. RNA degradation;mRNA Splicing - Major Pathway;Major pathway of rRNA processing in the nucleolus and cytosol PE1 5 +NX_P42330 Aldo-keto reductase family 1 member C3 323 36853 8.06 0 Cytoplasm;Nucleus NA Catalyzes the conversion of aldehydes and ketones to alcohols. Catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ) and the oxidation of 9-alpha,11-beta-PGF2 to PGD2. Functions as a bi-directional 3-alpha-, 17-beta- and 20-alpha HSD. Can interconvert active androgens, estrogens and progestins with their cognate inactive metabolites. Preferentially transforms androstenedione (4-dione) to testosterone. NA Belongs to the aldo/keto reductase family. Steroid hormone biosynthesis;Arachidonic acid metabolism;Metabolism of xenobiotics by cytochrome P450;RA biosynthesis pathway;Retinoid metabolism and transport;Synthesis of Prostaglandins (PG) and Thromboxanes (TX);Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 24-hydroxycholesterol;Synthesis of bile acids and bile salts via 27-hydroxycholesterol PE1 10 +NX_P42331 Rho GTPase-activating protein 25 645 73435 6.04 0 Cytoplasmic vesicle;Nucleoplasm NA GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. NA NA Rho GTPase cycle PE1 2 +NX_P42336 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 1068 124284 6.88 0 Cytosol Macrodactyly;Breast cancer;Ovarian cancer;Keratosis, seborrheic;CLAPO syndrome;Colorectal cancer;Megalencephaly-capillary malformation-polymicrogyria syndrome;Cowden syndrome 5;Hepatocellular carcinoma;Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns (Phosphatidylinositol), PtdIns4P (Phosphatidylinositol 4-phosphate) and PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Participates in cellular signaling in response to various growth factors. Involved in the activation of AKT1 upon stimulation by receptor tyrosine kinases ligands such as EGF, insulin, IGF1, VEGFA and PDGF. Involved in signaling via insulin-receptor substrate (IRS) proteins. Essential in endothelial cell migration during vascular development through VEGFA signaling, possibly by regulating RhoA activity. Required for lymphatic vasculature development, possibly by binding to RAS and by activation by EGF and FGF2, but not by PDGF. Regulates invadopodia formation through the PDPK1-AKT1 pathway. Participates in cardiomyogenesis in embryonic stem cells through a AKT1 pathway. Participates in vasculogenesis in embryonic stem cells through PDK1 and protein kinase C pathway. Also has serine-protein kinase activity: phosphorylates PIK3R1 (p85alpha regulatory subunit), EIF4EBP1 and HRAS. Plays a role in the positive regulation of phagocytosis and pinocytosis (By similarity). NA Belongs to the PI3/PI4-kinase family. Inositol phosphate metabolism;ErbB signaling pathway;Chemokine signaling pathway;Phosphatidylinositol signaling system;mTOR signaling pathway;Apoptosis;VEGF signaling pathway;Osteoclast differentiation;Focal adhesion;Toll-like receptor signaling pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Cholinergic synapse;Regulation of actin cytoskeleton;Insulin signaling pathway;Progesterone-mediated oocyte maturation;Type II diabetes mellitus;Aldosterone-regulated sodium reabsorption;Carbohydrate digestion and absorption;Bacterial invasion of epithelial cells;Chagas disease (American trypanosomiasis);Toxoplasmosis;Amoebiasis;Hepatitis C;Measles;Influenza A;HTLV-I infection;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Melanoma;Acute myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;G alpha (q) signalling events;Synthesis of PIPs at the plasma membrane;Downstream TCR signaling;PI3K Cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;PI-3K cascade:FGFR1;PI-3K cascade:FGFR2;PI-3K cascade:FGFR3;PI-3K cascade:FGFR4;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;Role of LAT2/NTAL/LAB on calcium mobilization;GPVI-mediated activation cascade;Interleukin receptor SHC signaling;DAP12 signaling;VEGFA-VEGFR2 Pathway;CD28 dependent PI3K/Akt signaling;PI3K events in ERBB4 signaling;PI3K events in ERBB2 signaling;Signaling by SCF-KIT;Signaling by cytosolic FGFR1 fusion mutants;Role of phospholipids in phagocytosis;Interleukin-3, Interleukin-5 and GM-CSF signaling;Nephrin family interactions;Regulation of signaling by CBL;Tie2 Signaling;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Costimulation by the CD28 family;PI3K/AKT activation;Downstream signal transduction;GAB1 signalosome;Constitutive Signaling by EGFRvIII;Signaling by FGFR4 in disease;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Signaling by FGFR3 point mutants in cancer;Signaling by FGFR3 fusions in cancer;RET signaling;MET activates PI3K/AKT signaling;IRS-mediated signalling;Activated NTRK3 signals through PI3K;Activated NTRK2 signals through PI3K;Erythropoietin activates Phosphoinositide-3-kinase (PI3K);Extra-nuclear estrogen signaling PE1 3 +NX_P42338 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform 1070 122762 6.69 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Midbody NA Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns (Phosphatidylinositol), PtdIns4P (Phosphatidylinositol 4-phosphate) and PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Involved in the activation of AKT1 upon stimulation by G-protein coupled receptors (GPCRs) ligands such as CXCL12, sphingosine 1-phosphate, and lysophosphatidic acid. May also act downstream receptor tyrosine kinases. Required in different signaling pathways for stable platelet adhesion and aggregation. Plays a role in platelet activation signaling triggered by GPCRs, alpha-IIb/beta-3 integrins (ITGA2B/ ITGB3) and ITAM (immunoreceptor tyrosine-based activation motif)-bearing receptors such as GP6. Regulates the strength of adhesion of ITGA2B/ ITGB3 activated receptors necessary for the cellular transmission of contractile forces. Required for platelet aggregation induced by F2 (thrombin) and thromboxane A2 (TXA2). Has a role in cell survival. May have a role in cell migration. Involved in the early stage of autophagosome formation. Modulates the intracellular level of PtdIns3P (Phosphatidylinositol 3-phosphate) and activates PIK3C3 kinase activity. May act as a scaffold, independently of its lipid kinase activity to positively regulate autophagy. May have a role in insulin signaling as scaffolding protein in which the lipid kinase activity is not required. May have a kinase-independent function in regulating cell proliferation and in clathrin-mediated endocytosis. Mediator of oncogenic signal in cell lines lacking PTEN. The lipid kinase activity is necessary for its role in oncogenic transformation. Required for the growth of ERBB2 and RAS driven tumors. Phosphorylation at Ser-1070 down-regulates lipid kinase activity. Belongs to the PI3/PI4-kinase family. Phospholipid metabolism; phosphatidylinositol phosphate biosynthesis.;Inositol phosphate metabolism;ErbB signaling pathway;Chemokine signaling pathway;Phosphatidylinositol signaling system;mTOR signaling pathway;Apoptosis;VEGF signaling pathway;Osteoclast differentiation;Focal adhesion;Toll-like receptor signaling pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Cholinergic synapse;Regulation of actin cytoskeleton;Insulin signaling pathway;Progesterone-mediated oocyte maturation;Type II diabetes mellitus;Aldosterone-regulated sodium reabsorption;Carbohydrate digestion and absorption;Bacterial invasion of epithelial cells;Chagas disease (American trypanosomiasis);Toxoplasmosis;Amoebiasis;Hepatitis C;Measles;Influenza A;HTLV-I infection;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Melanoma;Acute myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;Synthesis of PIPs at the plasma membrane;Downstream TCR signaling;PI3K Cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Role of LAT2/NTAL/LAB on calcium mobilization;GPVI-mediated activation cascade;Interleukin receptor SHC signaling;DAP12 signaling;VEGFA-VEGFR2 Pathway;Role of phospholipids in phagocytosis;Interleukin-3, Interleukin-5 and GM-CSF signaling;Nephrin family interactions;Regulation of signaling by CBL;Tie2 Signaling;PI3K/AKT activation;Downstream signal transduction;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;RET signaling;IRS-mediated signalling;Erythropoietin activates Phosphoinositide-3-kinase (PI3K) PE1 3 +NX_P42345 Serine/threonine-protein kinase mTOR 2549 288892 6.73 0 Microsome membrane;Cytoplasm;Mitochondrion outer membrane;Endoplasmic reticulum membrane;Lysosome membrane;PML body;Golgi apparatus membrane;Cytoplasmic vesicle;Cytosol;Lysosome Smith-Kingsmore syndrome;Focal cortical dysplasia 2 Serine/threonine protein kinase which is a central regulator of cellular metabolism, growth and survival in response to hormones, growth factors, nutrients, energy and stress signals (PubMed:12087098, PubMed:12150925, PubMed:12150926, PubMed:12231510, PubMed:12718876, PubMed:14651849, PubMed:15268862, PubMed:15467718, PubMed:15545625, PubMed:15718470, PubMed:18497260, PubMed:18762023, PubMed:18925875, PubMed:20516213, PubMed:20537536, PubMed:21659604, PubMed:23429703, PubMed:23429704, PubMed:25799227, PubMed:26018084). MTOR directly or indirectly regulates the phosphorylation of at least 800 proteins. Functions as part of 2 structurally and functionally distinct signaling complexes mTORC1 and mTORC2 (mTOR complex 1 and 2) (PubMed:15268862, PubMed:15467718, PubMed:18925875, PubMed:18497260, PubMed:20516213, PubMed:21576368, PubMed:21659604, PubMed:23429704). Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis (PubMed:12087098, PubMed:12150925, PubMed:12150926, PubMed:12231510, PubMed:12718876, PubMed:14651849, PubMed:15268862, PubMed:15467718, PubMed:15545625, PubMed:15718470, PubMed:18497260, PubMed:18762023, PubMed:18925875, PubMed:20516213, PubMed:20537536, PubMed:21659604, PubMed:23429703, PubMed:23429704, PubMed:25799227, PubMed:26018084). This includes phosphorylation of EIF4EBP1 and release of its inhibition toward the elongation initiation factor 4E (eiF4E) (By similarity). Moreover, phosphorylates and activates RPS6KB1 and RPS6KB2 that promote protein synthesis by modulating the activity of their downstream targets including ribosomal protein S6, eukaryotic translation initiation factor EIF4B, and the inhibitor of translation initiation PDCD4 (PubMed:12150925, PubMed:12087098, PubMed:18925875). Stimulates the pyrimidine biosynthesis pathway, both by acute regulation through RPS6KB1-mediated phosphorylation of the biosynthetic enzyme CAD, and delayed regulation, through transcriptional enhancement of the pentose phosphate pathway which produces 5-phosphoribosyl-1-pyrophosphate (PRPP), an allosteric activator of CAD at a later step in synthesis, this function is dependent on the mTORC1 complex (PubMed:23429704, PubMed:23429703). Regulates ribosome synthesis by activating RNA polymerase III-dependent transcription through phosphorylation and inhibition of MAF1 an RNA polymerase III-repressor (PubMed:20516213). In parallel to protein synthesis, also regulates lipid synthesis through SREBF1/SREBP1 and LPIN1 (By similarity). To maintain energy homeostasis mTORC1 may also regulate mitochondrial biogenesis through regulation of PPARGC1A (By similarity). MTORC1 also negatively regulates autophagy through phosphorylation of ULK1 (By similarity). Under nutrient sufficiency, phosphorylates ULK1 at 'Ser-758', disrupting the interaction with AMPK and preventing activation of ULK1 (By similarity). Also prevents autophagy through phosphorylation of the autophagy inhibitor DAP (PubMed:20537536). Also prevents autophagy by phosphorylating RUBCNL/Pacer under nutrient-rich conditions (PubMed:30704899). MTORC1 exerts a feedback control on upstream growth factor signaling that includes phosphorylation and activation of GRB10 a INSR-dependent signaling suppressor (PubMed:21659604). Among other potential targets mTORC1 may phosphorylate CLIP1 and regulate microtubules (PubMed:12231510). As part of the mTORC2 complex MTOR may regulate other cellular processes including survival and organization of the cytoskeleton (PubMed:15268862, PubMed:15467718). Plays a critical role in the phosphorylation at 'Ser-473' of AKT1, a pro-survival effector of phosphoinositide 3-kinase, facilitating its activation by PDK1 (PubMed:15718470). MTORC2 may regulate the actin cytoskeleton, through phosphorylation of PRKCA, PXN and activation of the Rho-type guanine nucleotide exchange factors RHOA and RAC1A or RAC1B (PubMed:15268862). MTORC2 also regulates the phosphorylation of SGK1 at 'Ser-422' (PubMed:18925875). Regulates osteoclastogenesis by adjusting the expression of CEBPB isoforms (By similarity). Plays an important regulatory role in the circadian clock function; regulates period length and rhythm amplitude of the suprachiasmatic nucleus (SCN) and liver clocks (By similarity). Phosphorylates SQSTM1, promoting interaction between SQSTM1 and KEAP1 and subsequent inactivation of the BCR(KEAP1) complex (By similarity). Autophosphorylates when part of mTORC1 or mTORC2. Phosphorylation at Ser-1261, Ser-2159 and Thr-2164 promotes autophosphorylation. Phosphorylation in the kinase domain modulates the interactions of MTOR with RPTOR and PRAS40 and leads to increased intrinsic mTORC1 kinase activity. Phosphorylation at Thr-2173 in the ATP-binding region by AKT1 strongly reduces kinase activity. Belongs to the PI3/PI4-kinase family. ErbB signaling pathway;mTOR signaling pathway;Insulin signaling pathway;Adipocytokine signaling pathway;Type II diabetes mellitus;Pathways in cancer;Glioma;Prostate cancer;Acute myeloid leukemia;Macroautophagy;PIP3 activates AKT signaling;VEGFR2 mediated vascular permeability;CD28 dependent PI3K/Akt signaling;HSF1-dependent transactivation;TP53 Regulates Metabolic Genes;Energy dependent regulation of mTOR by LKB1-AMPK;Constitutive Signaling by AKT1 E17K in Cancer;mTOR signalling;mTORC1-mediated signalling;Regulation of TP53 Degradation;Regulation of PTEN gene transcription PE1 1 +NX_P42356 Phosphatidylinositol 4-kinase alpha 2102 236830 6.64 0 Cytoplasm;Cell membrane Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate. NA Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PIPs at the ER membrane;Synthesis of PIPs at the Golgi membrane PE1 22 +NX_P42357 Histidine ammonia-lyase 657 72698 6.49 0 Cytosol Histidinemia NA Contains an active site 4-methylidene-imidazol-5-one (MIO), which is formed autocatalytically by cyclization and dehydration of residues Ala-Ser-Gly. Belongs to the PAL/histidase family. Amino-acid degradation; L-histidine degradation into L-glutamate; N-formimidoyl-L-glutamate from L-histidine: step 1/3.;Histidine metabolism;Nitrogen metabolism;Metabolic pathways;Histidine catabolism PE1 12 +NX_P42566 Epidermal growth factor receptor substrate 15 896 98656 4.52 0 Cytoplasm;Cell membrane;Clathrin-coated pit;Early endosome membrane;Cytoplasmic vesicle;Cytosol NA Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control of cell proliferation. Involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR. Plays a role in the assembly of clathrin-coated pits (CCPs). Acts as a clathrin adapter required for post-Golgi trafficking. Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2. Ubiquitinated.;Phosphorylation on Tyr-849 is involved in the internalization of EGFR. Not required for membrane translocation after EGF treatment or for targeting to coated pits, but essential for a subsequent step in EGFR endocytosis (By similarity). Phosphorylated on serine upon DNA damage, probably by ATM or ATR. NA Endocytosis;EGFR downregulation;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Negative regulation of MET activity;InlB-mediated entry of Listeria monocytogenes into host cell PE1 1 +NX_P42568 Protein AF-9 568 63351 8.77 0 Nucleoplasm;Cytosol;Nucleus;Chromosome NA Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA (PubMed:20159561, PubMed:20471948, PubMed:25417107, PubMed:27105114, PubMed:27545619). Specifically recognizes and binds acylated histone H3, with a marked preference for histone H3 that is crotonylated (PubMed:25417107, PubMed:27105114, PubMed:27545619). Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors (PubMed:25417107, PubMed:27105114, PubMed:27545619). Recognizes and binds histone H3 crotonylated at 'Lys-9' (H3K9cr), and with slightly lower affinity histone H3 crotonylated at 'Lys-18' (H3K18cr) (PubMed:27105114). Also recognizes and binds histone H3 acetylated at 'Lys-9' (H3K9ac), but with lower affinity than crotonylated histone H3 (PubMed:25417107, PubMed:27105114). In the SEC complex, MLLT3 is required to recruit the complex to crotonylated histones (PubMed:27105114, PubMed:27545619). NA NA Formation of RNA Pol II elongation complex;RNA Polymerase II Pre-transcription Events;RNA Polymerase II Transcription Elongation PE1 9 +NX_P42574 Caspase-3 277 31608 6.09 0 Nucleoplasm;Cytoplasm;Mitochondrion NA Involved in the activation cascade of caspases responsible for apoptosis execution. At the onset of apoptosis it proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a '216-Asp-|-Gly-217' bond. Cleaves and activates sterol regulatory element binding proteins (SREBPs) between the basic helix-loop-helix leucine zipper domain and the membrane attachment domain. Cleaves and activates caspase-6, -7 and -9. Involved in the cleavage of huntingtin. Triggers cell adhesion in sympathetic neurons through RET cleavage. Cleavage by granzyme B, caspase-6, caspase-8 and caspase-10 generates the two active subunits. Additional processing of the propeptides is likely due to the autocatalytic activity of the activated protease. Active heterodimers between the small subunit of caspase-7 protease and the large subunit of caspase-3 also occur and vice versa.;S-nitrosylated on its catalytic site cysteine in unstimulated human cell lines and denitrosylated upon activation of the Fas apoptotic pathway, associated with an increase in intracellular caspase activity. Fas therefore activates caspase-3 not only by inducing the cleavage of the caspase zymogen to its active subunits, but also by stimulating the denitrosylation of its active site thiol. Belongs to the peptidase C14A family. MAPK signaling pathway;p53 signaling pathway;Apoptosis;Natural killer cell mediated cytotoxicity;Alzheimer's disease;Parkinson's disease;Amyotrophic lateral sclerosis (ALS);Huntington's disease;Epithelial cell signaling in Helicobacter pylori infection;Pertussis;Legionellosis;Toxoplasmosis;Amoebiasis;Tuberculosis;Herpes simplex infection;Pathways in cancer;Colorectal cancer;Viral myocarditis;Degradation of the extracellular matrix;Signaling by Hippo;Caspase-mediated cleavage of cytoskeletal proteins;Apoptotic cleavage of cell adhesion proteins;Caspase activation via Dependence Receptors in the absence of ligand;Apoptotic cleavage of cellular proteins;Activation of caspases through apoptosome-mediated cleavage;NADE modulates death signalling;Stimulation of the cell death response by PAK-2p34;SMAC (DIABLO) binds to IAPs;SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes;Other interleukin signaling;Apoptosis induced DNA fragmentation;SMAC, XIAP-regulated apoptotic response PE1 4 +NX_P42575 Caspase-2 452 50685 6.35 0 Nucleoplasm NA Involved in the activation cascade of caspases responsible for apoptosis execution. Might function by either activating some proteins required for cell death or inactivating proteins necessary for cell survival (PubMed:15073321). Associates with PIDD1 and CRADD to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis in response to genotoxic stress (PubMed:15073321). The mature protease can process its own propeptide, but not that of other caspases. Belongs to the peptidase C14A family. NOD1/2 Signaling Pathway;NADE modulates death signalling;TP53 Regulates Transcription of Caspase Activators and Caspases PE1 7 +NX_P42658 Dipeptidyl aminopeptidase-like protein 6 865 97588 5.95 1 Cell membrane Familial paroxysmal ventricular fibrillation 2;Mental retardation, autosomal dominant 33 Promotes cell surface expression of the potassium channel KCND2 (PubMed:15454437, PubMed:19441798). Modulates the activity and gating characteristics of the potassium channel KCND2 (PubMed:18364354). Has no dipeptidyl aminopeptidase activity (PubMed:8103397, PubMed:15476821). N-glycosylated. Belongs to the peptidase S9B family. NA PE1 7 +NX_P42677 40S ribosomal protein S27 84 9461 9.57 0 NA Diamond-Blackfan anemia 17 Component of the small ribosomal subunit (PubMed:8706699). Required for proper rRNA processing and maturation of 18S rRNAs (PubMed:25424902). NA Belongs to the eukaryotic ribosomal protein eS27 family. Ribosome;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 1 +NX_P42679 Megakaryocyte-associated tyrosine-protein kinase 507 56469 9.01 0 Cytoplasm;Centriolar satellite;Membrane;Cytosol;Spindle;Cytoskeleton NA Could play a significant role in the signal transduction of hematopoietic cells. May regulate tyrosine kinase activity of SRC-family members in brain by specifically phosphorylating their C-terminal regulatory tyrosine residue which acts as a negative regulatory site. It may play an inhibitory role in the control of T-cell proliferation. Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. CSK subfamily. Neurotrophin signaling pathway;Downregulation of ERBB2 signaling PE1 19 +NX_P42680 Tyrosine-protein kinase Tec 631 73581 8.69 0 Cytoplasm;Cell membrane;Cytoskeleton NA Non-receptor tyrosine kinase that contributes to signaling from many receptors and participates as a signal transducer in multiple downstream pathways, including regulation of the actin cytoskeleton. Plays a redundant role to ITK in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. Required for TCR-dependent IL2 gene induction. Phosphorylates DOK1, one CD28-specific substrate, and contributes to CD28-signaling. Mediates signals that negatively regulate IL2RA expression induced by TCR cross-linking. Plays a redundant role to BTK in BCR-signaling for B-cell development and activation, especially by phosphorylating STAP1, a BCR-signaling protein. Required in mast cells for efficient cytokine production. Involved in both growth and differentiation mechanisms of myeloid cells through activation by the granulocyte colony-stimulating factor CSF3, a critical cytokine to promoting the growth, differentiation, and functional activation of myeloid cells. Participates in platelet signaling downstream of integrin activation. Cooperates with JAK2 through reciprocal phosphorylation to mediate cytokine-driven activation of FOS transcription. GRB10, a negative modifier of the FOS activation pathway, is another substrate of TEC. TEC is involved in G protein-coupled receptor- and integrin-mediated signalings in blood platelets. Plays a role in hepatocyte proliferation and liver regeneration and is involved in HGF-induced ERK signaling pathway. TEC regulates also FGF2 unconventional secretion (endoplasmic reticulum (ER)/Golgi-independent mechanism) under various physiological conditions through phosphorylation of FGF2 'Tyr-215'. May also be involved in the regulation of osteoclast differentiation. Following B-cell or T-cell receptors engagement, translocates to the plasma membrane where it gets phosphorylated at Tyr-519. Undergoes also tyrosine phosphorylation during platelet activation.;Autophosphorylated (Phosphotyrosine:PTM-0255);TEC is phosphorylated by LYN (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily. Osteoclast differentiation;T cell receptor signaling pathway;FCERI mediated Ca+2 mobilization;Signaling by SCF-KIT;Interleukin-3, Interleukin-5 and GM-CSF signaling PE1 4 +NX_P42681 Tyrosine-protein kinase TXK 527 61258 8.23 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cell membrane NA Non-receptor tyrosine kinase that plays a redundant role with ITK in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. When antigen presenting cells (APC) activate T-cell receptor (TCR), a series of phosphorylation lead to the recruitment of TXK to the cell membrane, where it is phosphorylated at Tyr-420. Phosphorylation leads to TXK full activation. Contributes also to signaling from many receptors and participates in multiple downstream pathways, including regulation of the actin cytoskeleton. Like ITK, can phosphorylate PLCG1, leading to its localization in lipid rafts and activation, followed by subsequent cleavage of its substrates. In turn, the endoplasmic reticulum releases calcium in the cytoplasm and the nuclear activator of activated T-cells (NFAT) translocates into the nucleus to perform its transcriptional duty. With PARP1 and EEF1A1, TXK forms a complex that acts as a T-helper 1 (Th1) cell-specific transcription factor and binds the promoter of IFNG to directly regulate its transcription, and is thus involved importantly in Th1 cytokine production. Phosphorylates both PARP1 and EEF1A1. Phosphorylates also key sites in LCP2 leading to the up-regulation of Th1 preferred cytokine IL-2. Phosphorylates 'Tyr-201' of CTLA4 which leads to the association of PI-3 kinase with the CTLA4 receptor. Phosphorylated at Tyr-420 by FYN. Autophosphorylation at Tyr-91 is critical for the activation of TXK, leading to the up-regulation of IFN-gamma gene transcription.;The cysteine string at the N-terminus is palmitoylated and required for the proper subcellular location.;TXK is phosphorylated by LCK (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily. Leukocyte transendothelial migration;FCERI mediated Ca+2 mobilization PE1 4 +NX_P42684 Tyrosine-protein kinase ABL2 1182 128343 8.31 0 Nucleoplasm;Cytoskeleton NA Non-receptor tyrosine-protein kinase that plays an ABL1-overlapping role in key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion and receptor endocytosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like MYH10 (involved in movement); CTTN (involved in signaling); or TUBA1 and TUBB (microtubule subunits). Binds directly F-actin and regulates actin cytoskeletal structure through its F-actin-bundling activity. Involved in the regulation of cell adhesion and motility through phosphorylation of key regulators of these processes such as CRK, CRKL, DOK1 or ARHGAP35. Adhesion-dependent phosphorylation of ARHGAP35 promotes its association with RASA1, resulting in recruitment of ARHGAP35 to the cell periphery where it inhibits RHO. Phosphorylates multiple receptor tyrosine kinases like PDGFRB and other substrates which are involved in endocytosis regulation such as RIN1. In brain, may regulate neurotransmission by phosphorylating proteins at the synapse. ABL2 acts also as a regulator of multiple pathological signaling cascades during infection. Pathogens can highjack ABL2 kinase signaling to reorganize the host actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host cell exit. Finally, functions as its own regulator through autocatalytic activity as well as through phosphorylation of its inhibitor, ABI1. Polyubiquitinated. Polyubiquitination of ABL2 leads to degradation.;Phosphorylated at Tyr-261 by ABL1 in response to oxidative stress. Phosphorylated by PDGFRB (By similarity).;ABL2 is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255);ABL2 is phosphorylated by PDGFRB (Phosphotyrosine:PTM-0255);ABL2 is phosphorylated by EPHB2 (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. ABL subfamily. ErbB signaling pathway;Viral myocarditis;Role of ABL in ROBO-SLIT signaling PE1 1 +NX_P42685 Tyrosine-protein kinase FRK 505 58254 6.22 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Non-receptor tyrosine-protein kinase that negatively regulates cell proliferation. Positively regulates PTEN protein stability through phosphorylation of PTEN on 'Tyr-336', which in turn prevents its ubiquitination and degradation, possibly by reducing its binding to NEDD4. May function as a tumor suppressor. Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily. Neutrophil degranulation;Regulation of PTEN stability and activity PE1 6 +NX_P42694 Probable helicase with zinc finger domain 1942 218970 7.04 0 Nucleolus;Cell membrane;Nucleus;Cytoskeleton NA May act as a helicase that plays a role in RNA metabolism in multiple tissues and organs within the developing embryo. NA Belongs to the DNA2/NAM7 helicase family. NA PE1 17 +NX_P42695 Condensin-2 complex subunit D3 1498 168891 7.38 0 Nucleoplasm;Nucleus Microcephaly 22, primary, autosomal recessive Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis (PubMed:14532007). May promote the resolution of double-strand DNA catenanes (intertwines) between sister chromatids. Condensin-mediated compaction likely increases tension in catenated sister chromatids, providing directionality for type II topoisomerase-mediated strand exchanges toward chromatid decatenation. Specifically required for decatenation of centromeric ultrafine DNA bridges during anaphase. Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (PubMed:27737959). NA NA Condensation of Prophase Chromosomes PE1 11 +NX_P42696 RNA-binding protein 34 430 48565 10.11 0 Nucleoplasm;Nucleolus NA NA NA Belongs to the RRM RBM34 family. NA PE1 1 +NX_P42701 Interleukin-12 receptor subunit beta-1 662 73109 5.28 1 Membrane;Cell membrane Immunodeficiency 30 Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12. Associates also with IL23R to form the interleukin-23 receptor which functions in IL23 signal transduction probably through activation of the Jak-Stat signaling cascade. NA Belongs to the type I cytokine receptor family. Type 2 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-12 signaling;Interleukin-23 signaling PE1 19 +NX_P42702 Leukemia inhibitory factor receptor 1097 123743 5.5 1 Golgi apparatus;Nucleus speckle;Cell membrane Stueve-Wiedemann syndrome Signal-transducing molecule. May have a common pathway with IL6ST. The soluble form inhibits the biological activity of LIF by blocking its binding to receptors on target cells. NA Belongs to the type I cytokine receptor family. Type 2 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;IL-6-type cytokine receptor ligand interactions;RUNX1 regulates transcription of genes involved in interleukin signaling PE1 5 +NX_P42704 Leucine-rich PPR motif-containing protein, mitochondrial 1394 157905 5.81 0 Nucleus inner membrane;Nucleoplasm;Mitochondrion;Nucleus outer membrane Leigh syndrome French-Canadian type May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are possibly associated with nuclear mRNA export. May bind mature mRNA in the nucleus outer membrane. In mitochondria binds to poly(A) mRNA. Plays a role in translation or stability of mitochondrially encoded cytochrome c oxidase (COX) subunits. May be involved in transcription regulation. Cooperates with PPARGC1A to regulate certain mitochondrially encoded genes and gluconeogenic genes and may regulate docking of PPARGC1A to transcription factors. Seems to be involved in the transcription regulation of the multidrug-related genes MDR1 and MVP. Part of a nuclear factor that binds to the invMED1 element of MDR1 and MVP gene promoters. Binds single-stranded DNA (By similarity). NA NA Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 2 +NX_P42765 3-ketoacyl-CoA thiolase, mitochondrial 397 41924 8.32 0 Mitochondrion NA In the production of energy from fats, this is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA (Probable). Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain unbranched 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms (Probable). Also catalyzes the condensation of two acetyl-CoA molecules into acetoacetyl-CoA and could be involved in the production of ketone bodies (Probable). Also displays hydrolase activity on various fatty acyl-CoAs (PubMed:25478839). Thereby, could be responsible for the production of acetate in a side reaction to beta-oxidation (Probable). Abolishes BNIP3-mediated apoptosis and mitochondrial damage (PubMed:18371312). NA Belongs to the thiolase-like superfamily. Thiolase family. Lipid metabolism; fatty acid beta-oxidation.;Fatty acid elongation;Fatty acid metabolism;Valine, leucine and isoleucine degradation;Metabolic pathways;Mitochondrial Fatty Acid Beta-Oxidation PE1 18 +NX_P42766 60S ribosomal protein L35 123 14551 11.04 0 Endoplasmic reticulum;Cytoplasm;Cytosol;Nucleolus Diamond-Blackfan anemia 19 Component of the large ribosomal subunit. NA Belongs to the universal ribosomal protein uL29 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 9 +NX_P42768 Wiskott-Aldrich syndrome protein 502 52913 6.18 0 Cytosol;Cell membrane;Nucleus;Cytoskeleton Neutropenia, severe congenital, X-linked;Wiskott-Aldrich syndrome;Thrombocytopenia 1 Effector protein for Rho-type GTPases that regulates actin filament reorganization via its interaction with the Arp2/3 complex (PubMed:12235133, PubMed:12769847, PubMed:16275905). Important for efficient actin polymerization (PubMed:8625410, PubMed:12235133, PubMed:16275905). Possible regulator of lymphocyte and platelet function (PubMed:9405671). Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria (PubMed:18650809). In addition to its role in the cytoplasmic cytoskeleton, also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:20574068). Promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947). Phosphorylated at Tyr-291 by FYN and HCK, inducing WAS effector activity after TCR engagement. Phosphorylation at Tyr-291 enhances WAS activity in promoting actin polymerization and filopodia formation.;WAS is phosphorylated by BTK (Phosphotyrosine:PTM-0255) NA Chemokine signaling pathway;Adherens junction;Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Pathogenic Escherichia coli infection;Shigellosis;Salmonella infection;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;Generation of second messenger molecules PE1 X +NX_P42771 Cyclin-dependent kinase inhibitor 2A 156 16533 5.52 0 Cytoplasm;Nucleus Melanoma, cutaneous malignant 2;Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome;Melanoma-astrocytoma syndrome Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein. Phosphorylation seems to increase interaction with CDK4.;CDKN2A is phosphorylated by PRKCA (Phosphothreonine:PTM-0254) Belongs to the CDKN2 cyclin-dependent kinase inhibitor family. Cell cycle;p53 signaling pathway;HTLV-I infection;Pathways in cancer;Pancreatic cancer;Glioma;Melanoma;Bladder cancer;Chronic myeloid leukemia;Non-small cell lung cancer;Oxidative Stress Induced Senescence;Senescence-Associated Secretory Phenotype (SASP);Oncogene Induced Senescence;Cyclin D associated events in G1;Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4;Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6;Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4;Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 PE1 9 +NX_P42772 Cyclin-dependent kinase 4 inhibitor B 138 14722 6.08 0 Cytoplasm;Nucleoplasm NA Interacts strongly with CDK4 and CDK6. Potent inhibitor. Potential effector of TGF-beta induced cell cycle arrest. NA Belongs to the CDKN2 cyclin-dependent kinase inhibitor family. Cell cycle;TGF-beta signaling pathway;HTLV-I infection;Pathways in cancer;Small cell lung cancer;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Oxidative Stress Induced Senescence;Senescence-Associated Secretory Phenotype (SASP);Oncogene Induced Senescence;Cyclin D associated events in G1 PE1 9 +NX_P42773 Cyclin-dependent kinase 4 inhibitor C 168 18127 6.05 0 Nucleoplasm;Cytosol NA Interacts strongly with CDK6, weakly with CDK4. Inhibits cell growth and proliferation with a correlated dependence on endogenous retinoblastoma protein RB. NA Belongs to the CDKN2 cyclin-dependent kinase inhibitor family. Cell cycle;HTLV-I infection;Oxidative Stress Induced Senescence;Senescence-Associated Secretory Phenotype (SASP);Oncogene Induced Senescence;Cyclin D associated events in G1 PE1 1 +NX_P42785 Lysosomal Pro-X carboxypeptidase 496 55800 6.76 0 Cytoplasmic vesicle;Lysosome NA Cleaves C-terminal amino acids linked to proline in peptides such as angiotensin II, III and des-Arg9-bradykinin. This cleavage occurs at acidic pH, but enzymatic activity is retained with some substrates at neutral pH. NA Belongs to the peptidase S28 family. Protein digestion and absorption;Intrinsic Pathway of Fibrin Clot Formation;Neutrophil degranulation PE1 11 +NX_P42830 C-X-C motif chemokine 5 114 11972 9.17 0 Secreted NA Involved in neutrophil activation. In vitro, ENA-78(8-78) and ENA-78(9-78) show a threefold higher chemotactic activity for neutrophil granulocytes. N-terminal processed forms ENA-78(8-78) and ENA-78(9-78) are produced by proteolytic cleavage after secretion from peripheral blood monocytes. Belongs to the intercrine alpha (chemokine CxC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Pertussis;Rheumatoid arthritis;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 4 +NX_P42857 Neuronal vesicle trafficking-associated protein 1 185 20913 5.6 1 Endoplasmic reticulum membrane;Endosome membrane;trans-Golgi network membrane;Membrane;Cytoplasmic vesicle membrane;Golgi stack membrane;Lysosome lumen;Recycling endosome membrane;Early endosome membrane;Dendrite;Multivesicular body membrane;Late endosome membrane NA Plays a role in the recycling mechanism in neurons of multiple receptors, including AMPAR, APP and L1CAM and acts at the level of early endosomes to promote sorting of receptors toward a recycling pathway. Regulates sorting and recycling of GRIA2 through interaction with GRIP1 and then contributes to the regulation of synaptic transmission and plasticity by affecting the recycling and targeting of AMPA receptors to the synapse (By similarity). Is required for faithful sorting of L1CAM to axons by facilitating trafficking from somatodendritic early endosome or the recycling endosome (By similarity). In an other hand, induces apoptosis via the activation of CASP3 in response to DNA damage (PubMed:20599942, PubMed:20878061). NA Belongs to the NSG family. NA PE1 4 +NX_P42858 Huntingtin 3142 347603 5.81 0 Cytoplasm;Early endosome;Nucleoplasm;Autophagosome;Cytosol;Nucleus Huntington disease;Lopes-Maciel-Rodan syndrome Huntingtin: May play a role in microtubule-mediated transport or vesicle function.;Huntingtin, myristoylated N-terminal fragment: Promotes the formation of autophagic vesicles. Huntingtin: Cleaved by caspases downstream of the polyglutamine stretch (PubMed:8696339, PubMed:9535906, PubMed:10770929, PubMed:29802276). The resulting N-terminal fragments are cytotoxic and provokes apoptosis (PubMed:10770929).;Huntingtin, myristoylated N-terminal fragment: Myristoylated at Gly-551, following proteolytic cleavage at Asp-550.;Huntingtin: Phosphorylation at Ser-1179 and Ser-1199 by CDK5 in response to DNA damage in nuclei of neurons protects neurons against polyglutamine expansion as well as DNA damage mediated toxicity.;Huntingtin: Forms with expanded polyglutamine expansion are specifically ubiquitinated by SYVN1, which promotes their proteasomal degradation. Belongs to the huntingtin family. Huntington's disease;Regulation of MECP2 expression and activity PE1 4 +NX_P42892 Endothelin-converting enzyme 1 770 87164 5.61 1 Cell membrane Hirschsprung disease, cardiac defects, and autonomic dysfunction Converts big endothelin-1 to endothelin-1. NA Belongs to the peptidase M13 family. Peptide ligand-binding receptors PE1 1 +NX_P42898 Methylenetetrahydrofolate reductase 656 74597 5.22 0 Cell junction Methylenetetrahydrofolate reductase deficiency;Ischemic stroke;Schizophrenia;Neural tube defects, folate-sensitive Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. NA Belongs to the methylenetetrahydrofolate reductase family. One-carbon metabolism; tetrahydrofolate interconversion.;One carbon pool by folate;Metabolic pathways;Metabolism of folate and pterines PE1 1 +NX_P43003 Excitatory amino acid transporter 1 542 59572 8.52 8 Mitochondrion;Nucleolus;Cell membrane Episodic ataxia 6 Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7521911, PubMed:8123008, PubMed:20477940, PubMed:26690923, PubMed:28032905, PubMed:28424515). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion (PubMed:20477940). Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (PubMed:20477940). Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (By similarity). Glycosylated. Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A3 subfamily. Glutamatergic synapse;Glutamate Neurotransmitter Release Cycle;Astrocytic Glutamate-Glutamine Uptake And Metabolism;Transport of inorganic cations/anions and amino acids/oligopeptides;Defective SLC1A3 causes episodic ataxia 6 (EA6) PE1 5 +NX_P43004 Excitatory amino acid transporter 2 574 62104 6.09 8 Cell membrane Epileptic encephalopathy, early infantile, 41 Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7521911, PubMed:14506254, PubMed:15265858, PubMed:26690923). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion (PubMed:14506254). Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (PubMed:14506254). Essential for the rapid removal of released glutamate from the synaptic cleft, and for terminating the postsynaptic action of glutamate (By similarity). Palmitoylation at Cys-38 is not required for correct subcellular localization, but is important for glutamate uptake activity.;Glycosylated. Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A2 subfamily. Glutamatergic synapse;Amyotrophic lateral sclerosis (ALS);Glutamate Neurotransmitter Release Cycle;Astrocytic Glutamate-Glutamine Uptake And Metabolism;Transport of inorganic cations/anions and amino acids/oligopeptides PE1 11 +NX_P43005 Excitatory amino acid transporter 3 524 57100 5.56 8 Cell membrane;Synaptosome;Recycling endosome membrane;Early endosome membrane;Apical cell membrane;Late endosome membrane Schizophrenia 18;Dicarboxylic aminoaciduria Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7914198, PubMed:7521911, PubMed:8857541, PubMed:26690923, PubMed:21123949). Can also transport L-cysteine (PubMed:21123949). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion (PubMed:7521911, PubMed:8857541, PubMed:26690923). Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (PubMed:8857541, PubMed:26690923). Plays an important role in L-glutamate and L-aspartate reabsorption in renal tubuli (PubMed:21123949). Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (By similarity). Contributes to glutathione biosynthesis and protection against oxidative stress via its role in L-glutamate and L-cysteine transport (By similarity). Negatively regulated by ARL6IP5 (By similarity). Glycosylated. Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A1 subfamily. Glutamatergic synapse;Protein digestion and absorption;Glutamate Neurotransmitter Release Cycle;Transport of inorganic cations/anions and amino acids/oligopeptides;Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA) PE1 9 +NX_P43007 Neutral amino acid transporter A 532 55723 5.88 9 Membrane;Centrosome;Melanosome Spastic tetraplegia, thin corpus callosum, and progressive microcephaly Transporter for alanine, serine, cysteine, and threonine. Exhibits sodium dependence. NA Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A4 subfamily. Amino acid transport across the plasma membrane PE1 2 +NX_P43026 Growth/differentiation factor 5 501 55411 9.82 0 Secreted;Cell membrane Du Pan syndrome;Acromesomelic chondrodysplasia, Hunter-Thompson type;Multiple synostoses syndrome 2;Brachydactyly A1, C;Brachydactyly C;Osteoarthritis 5;Brachydactyly A2;Acromesomelic chondrodysplasia, Grebe type;Symphalangism, proximal 1B Growth factor involved in bone and cartilage formation. During cartilage development regulates differentiation of chondrogenic tissue through two pathways. Firstly, positively regulates differentiation of chondrogenic tissue through its binding of high affinity with BMPR1B and of less affinity with BMPR1A, leading to induction of SMAD1-SMAD5-SMAD8 complex phosphorylation and then SMAD protein signaling transduction (PubMed:24098149, PubMed:21976273, PubMed:15530414, PubMed:25092592). Secondly, negatively regulates chondrogenic differentiation through its interaction with NOG (PubMed:21976273). Required to prevent excessive muscle loss upon denervation. This function requires SMAD4 and is mediated by phosphorylated SMAD1/5/8 (By similarity). Binds bacterial lipopolysaccharide (LPS) and mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:11276205). NA Belongs to the TGF-beta family. Cytokine-cytokine receptor interaction;TGF-beta signaling pathway;Molecules associated with elastic fibres PE1 20 +NX_P43034 Platelet-activating factor acetylhydrolase IB subunit alpha 410 46638 6.97 0 Spindle;Centrosome;Nucleus membrane;Cytoskeleton Subcortical band heterotopia;Lissencephaly 1;Miller-Dieker lissencephaly syndrome Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors. Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the acetyl group at the SN-2 position (By similarity). Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by exerting force on centrosomal microtubules. May also play a role in other forms of cell locomotion including the migration of fibroblasts during wound healing. Required for dynein recruitment to microtubule plus ends and BICD2-bound cargos (PubMed:22956769). NA Belongs to the WD repeat LIS1/nudF family. Ether lipid metabolism;Metabolic pathways;Separation of Sister Chromatids;Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Recruitment of NuMA to mitotic centrosomes;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;COPI-independent Golgi-to-ER retrograde traffic;AURKA Activation by TPX2 PE1 17 +NX_P43080 Guanylyl cyclase-activating protein 1 201 22920 4.34 0 Membrane;Photoreceptor outer segment;Cell membrane Cone dystrophy 3 Stimulates retinal guanylyl cyclase when free calcium ions concentration is low and inhibits guanylyl cyclase when free calcium ions concentration is elevated (PubMed:19459154). This Ca(2+)-sensitive regulation of retinal guanylyl cyclase is a key event in recovery of the dark state of rod photoreceptors following light exposure (By similarity). May be involved in cone photoreceptor light response and recovery of response in bright light (By similarity). NA NA Olfactory transduction;Phototransduction;Inactivation, recovery and regulation of the phototransduction cascade PE1 6 +NX_P43088 Prostaglandin F2-alpha receptor 359 40055 9.19 7 Cell membrane NA Receptor for prostaglandin F2-alpha (PGF2-alpha). The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. Initiates luteolysis in the corpus luteum (By similarity). Isoforms 2 to 7 do not bind PGF2-alpha but are proposed to modulate signaling by participating in variant receptor complexes; heterodimers between isoform 1 and isoform 5 are proposed to be a receptor for prostamides including the synthetic analog bimatoprost. NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;G alpha (q) signalling events;Prostanoid ligand receptors PE1 1 +NX_P43115 Prostaglandin E2 receptor EP3 subtype 390 43310 9.73 7 Cell membrane NA Receptor for prostaglandin E2 (PGE2) (PubMed:8307176, PubMed:7883006, PubMed:8117308, PubMed:8135729, PubMed:7981210). The activity of this receptor can couple to both the inhibition of adenylate cyclase mediated by G(i) proteins, and to an elevation of intracellular calcium (PubMed:7883006, PubMed:8117308, PubMed:8135729, PubMed:7981210). Required for normal development of fever in response to pyrinogens, including IL1B, prostaglandin E2 and bacterial lipopolysaccharide (LPS). Required for normal potentiation of platelet aggregation by prostaglandin E2, and thus plays a role in the regulation of blood coagulation. Required for increased HCO3(-) secretion in the duodenum in response to mucosal acidification, and thereby contributes to the protection of the mucosa against acid-induced ulceration. Not required for normal kidney function, normal urine volume and osmolality (By similarity). NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Prostanoid ligand receptors PE1 1 +NX_P43116 Prostaglandin E2 receptor EP2 subtype 358 39761 9.37 7 Cell membrane NA Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. The subsequent raise in intracellular cAMP is responsible for the relaxing effect of this receptor on smooth muscle. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Prostanoid ligand receptors PE1 14 +NX_P43119 Prostacyclin receptor 386 40956 8.9 7 Cell membrane NA Receptor for prostacyclin (prostaglandin I2 or PGI2). The activity of this receptor is mediated by G(s) proteins which activate adenylate cyclase. Palmitoylation of either Cys-308 or Cys-311 is sufficient to maintain functional coupling to G(s) and signaling.;Isoprenylation does not influence ligand binding but is required for efficient coupling to the effectors adenylyl cyclase and phospholipase C. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Vascular smooth muscle contraction;G alpha (s) signalling events;Prostanoid ligand receptors;Prostacyclin signalling through prostacyclin receptor PE1 19 +NX_P43121 Cell surface glycoprotein MUC18 646 71607 5.58 1 Membrane;Cell membrane NA Plays a role in cell adhesion, and in cohesion of the endothelial monolayer at intercellular junctions in vascular tissue. Its expression may allow melanoma cells to interact with cellular elements of the vascular system, thereby enhancing hematogeneous tumor spread. Could be an adhesion molecule active in neural crest cells during embryonic development. Acts as surface receptor that triggers tyrosine phosphorylation of FYN and PTK2/FAK1, and a transient increase in the intracellular calcium concentration. NA NA NA PE1 11 +NX_P43146 Netrin receptor DCC 1447 158457 6.32 1 Membrane;Golgi apparatus Gaze palsy, familial horizontal, with progressive scoliosis, 2, with impaired intellectual development;Mirror movements 1 Receptor for netrin required for axon guidance. Mediates axon attraction of neuronal growth cones in the developing nervous system upon ligand binding. Its association with UNC5 proteins may trigger signaling for axon repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. Implicated as a tumor suppressor gene. Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation. Belongs to the immunoglobulin superfamily. DCC family. Axon guidance;Pathways in cancer;Colorectal cancer;DSCAM interactions;Netrin-1 signaling;Caspase activation via Dependence Receptors in the absence of ligand;Role of second messengers in netrin-1 signaling;Netrin mediated repulsion signals;DCC mediated attractive signaling;Regulation of commissural axon pathfinding by SLIT and ROBO PE1 18 +NX_P43155 Carnitine O-acetyltransferase 626 70858 8.63 0 Mitochondrion;Nucleus membrane;Endoplasmic reticulum;Peroxisome;Nucleoplasm;Mitochondrion inner membrane Neurodegeneration with brain iron accumulation 8 Catalyzes the reversible transfer of acyl groups from carnitine to coenzyme A (CoA) and regulates the acyl-CoA/CoA ratio. Also plays a crucial role in the transport of fatty acids for beta-oxidation. May be specific for short chain fatty acids. NA Belongs to the carnitine/choline acetyltransferase family. Peroxisome;Beta-oxidation of pristanoyl-CoA;Peroxisomal protein import PE1 9 +NX_P43166 Carbonic anhydrase 7 264 29658 6.92 0 Cytoplasm NA Reversible hydration of carbon dioxide. NA Belongs to the alpha-carbonic anhydrase family. Nitrogen metabolism;Reversible hydration of carbon dioxide PE1 16 +NX_P43220 Glucagon-like peptide 1 receptor 463 53026 8.49 7 Cell membrane NA G-protein coupled receptor for glucagon-like peptide 1 (GLP-1) (PubMed:8405712, PubMed:8216285, PubMed:7517895, PubMed:19861722, PubMed:26308095, PubMed:27196125, PubMed:28514449). Ligand binding triggers activation of a signaling cascade that leads to the activation of adenylyl cyclase and increased intracellular cAMP levels (PubMed:8405712, PubMed:8216285, PubMed:7517895, PubMed:19861722, PubMed:26308095, PubMed:27196125, PubMed:28514449). Plays a role in regulating insulin secretion in response to GLP-1 (By similarity). N-glycosylation enhances cell surface expression and lengthens receptor half-life by preventing degradation in the ER. Belongs to the G-protein coupled receptor 2 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Glucagon-type ligand receptors PE1 6 +NX_P43234 Cathepsin O 321 35958 7.06 0 Lysosome NA Proteolytic enzyme possibly involved in normal cellular protein degradation and turnover. NA Belongs to the peptidase C1 family. Lysosome;MHC class II antigen presentation PE1 4 +NX_P43235 Cathepsin K 329 36966 8.72 0 Cytoplasmic vesicle;Lysosome Pycnodysostosis Closely involved in osteoclastic bone resorption and may participate partially in the disorder of bone remodeling. Displays potent endoprotease activity against fibrinogen at acid pH. May play an important role in extracellular matrix degradation. NA Belongs to the peptidase C1 family. Lysosome;Osteoclast differentiation;Toll-like receptor signaling pathway;Rheumatoid arthritis;Degradation of the extracellular matrix;MHC class II antigen presentation;Collagen degradation;Trafficking and processing of endosomal TLR;Activation of Matrix Metalloproteinases;RUNX1 regulates transcription of genes involved in differentiation of keratinocytes PE1 1 +NX_P43243 Matrin-3 847 94623 5.87 0 Nucleoplasm;Nucleus matrix Amyotrophic lateral sclerosis 21 May play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of defective RNAs. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728). May bind to specific miRNA hairpins (PubMed:28431233). NA NA NA PE1 5 +NX_P43246 DNA mismatch repair protein Msh2 934 104743 5.58 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Chromosome Endometrial cancer;Colorectal cancer;Muir-Torre syndrome;Hereditary non-polyposis colorectal cancer 1;Mismatch repair cancer syndrome Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, MutS alpha or beta forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. Recruits DNA helicase MCM9 to chromatin which unwinds the mismatch containg DNA strand (PubMed:26300262). ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. In melanocytes may modulate both UV-B-induced cell cycle regulation and apoptosis. Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome pathway.;MSH2 is phosphorylated by PRKCZ (Phosphothreonine:PTM-0254) Belongs to the DNA mismatch repair MutS family. Mismatch repair;Pathways in cancer;Colorectal cancer;Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha);Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta);TP53 Regulates Transcription of DNA Repair Genes;Defective Mismatch Repair Associated With MSH2;Defective Mismatch Repair Associated With MSH3;Defective Mismatch Repair Associated With MSH6 PE1 2 +NX_P43250 G protein-coupled receptor kinase 6 576 65991 8.32 0 Membrane;Mitochondrion NA Specifically phosphorylates the activated forms of G protein-coupled receptors. Such receptor phosphorylation initiates beta-arrestin-mediated receptor desensitization, internalization, and signaling events leading to their desensitization. Seems to be involved in the desensitization of D2-like dopamine receptors in striatum and chemokine receptor CXCR4 which is critical for CXCL12-induced cell chemotaxis (By similarity). Phosphorylates rhodopsin (RHO) (in vitro) and a non G-protein-coupled receptor: LRP6 during Wnt signaling (in vitro). It is uncertain whether palmitoylation is on Cys-561 and/or Cys-562 and/or Cys-565. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily. Chemokine signaling pathway;Endocytosis;G alpha (s) signalling events PE1 5 +NX_P43251 Biotinidase 543 61133 5.81 0 Extracellular space Biotinidase deficiency Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation. NA Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family. Biotin metabolism;Metabolic pathways;Vitamin digestion and absorption;Biotin transport and metabolism;Defective BTD causes biotidinase deficiency PE1 3 +NX_P43268 ETS translocation variant 4 484 53938 5.31 0 Nucleus;Nucleolus NA Transcriptional activator that binds to the enhancer of the adenovirus E1A gene; the core-binding sequence is 5'[AC]GGA[AT]GT-3'. Sumoylated; enhanced upon ERK/MAP kinase pathway activation, it positively regulates the transcriptional activator capacity. Sumoylation at Lys-96 probably requires phosphorylation at Ser-101. Transiently polysumoylated and desumoylated by SENP1. Sumoylation is a prerequisite to polyubiquitination which in turn increases proteasomal-mediated degradation. Probably polyubiquitinated by RNF4 and deubiquitinated by USP2. Belongs to the ETS family. MAPK6/MAPK4 signaling PE1 17 +NX_P43304 Glycerol-3-phosphate dehydrogenase, mitochondrial 727 80853 7.58 0 Mitochondrion NA NA NA Belongs to the FAD-dependent glycerol-3-phosphate dehydrogenase family. Polyol metabolism; glycerol degradation via glycerol kinase pathway; glycerone phosphate from sn-glycerol 3-phosphate (anaerobic route): step 1/1.;Glycerophospholipid metabolism;Synthesis of PA;Triglyceride catabolism PE1 2 +NX_P43307 Translocon-associated protein subunit alpha 286 32235 4.39 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins. May be involved in the recycling of the translocation apparatus after completion of the translocation process or may function as a membrane-bound chaperone facilitating folding of translocated proteins. NA Belongs to the TRAP-alpha family. Protein processing in endoplasmic reticulum;XBP1(S) activates chaperone genes;SRP-dependent cotranslational protein targeting to membrane PE1 6 +NX_P43308 Translocon-associated protein subunit beta 183 20135 7.94 1 Endoplasmic reticulum membrane NA TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins. NA Belongs to the TRAP-beta family. Protein processing in endoplasmic reticulum;SRP-dependent cotranslational protein targeting to membrane PE1 1 +NX_P43320 Beta-crystallin B2 205 23380 6.5 0 Nucleoplasm Cataract 3, multiple types Crystallins are the dominant structural components of the vertebrate eye lens. NA Belongs to the beta/gamma-crystallin family. NA PE1 22 +NX_P43351 DNA repair protein RAD52 homolog 418 46169 8.49 0 Nucleus speckle;Nucleus;Cell membrane NA Involved in double-stranded break repair. Plays a central role in genetic recombination and DNA repair by promoting the annealing of complementary single-stranded DNA and by stimulation of the RAD51 recombinase. Phosphorylated upon DNA damage by ABL1, and probably by ATM or ATR. Belongs to the RAD52 family. Homologous recombination;SUMOylation of DNA damage response and repair proteins;HDR through Single Strand Annealing (SSA) PE1 12 +NX_P43353 Aldehyde dehydrogenase family 3 member B1 468 51840 7.55 0 Cell membrane NA Oxidizes medium and long chain saturated and unsaturated aldehydes (PubMed:17382292, PubMed:23721920). Metabolizes also benzaldehyde (PubMed:17382292). Low activity towards acetaldehyde and 3,4-dihydroxyphenylacetaldehyde (PubMed:17382292, PubMed:23721920). May not metabolize short chain aldehydes. Can use both NADP(+) and NAD(+) as electron acceptor (PubMed:17382292). May have a protective role against the cytotoxicity induced by lipid peroxidation (PubMed:17382292). Dually lipidated in the C-terminus; prenylation occurs prior to, and is a prerequisite for palmitoylation. It is also required for activity towards long-chain substrates. Belongs to the aldehyde dehydrogenase family. Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.;Glycolysis / Gluconeogenesis;Histidine metabolism;Tyrosine metabolism;Phenylalanine metabolism;beta-Alanine metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;Sphingolipid de novo biosynthesis;Neutrophil degranulation PE1 11 +NX_P43354 Nuclear receptor subfamily 4 group A member 2 598 66591 8.19 0 Cytoplasm;Nucleus speckle;Nucleus NA Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. It is crucial for expression of a set of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons (By similarity). NR4A2 is phosphorylated by NLK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the nuclear hormone receptor family. NR4 subfamily. Nuclear Receptor transcription pathway;SUMOylation of intracellular receptors PE1 2 +NX_P43355 Melanoma-associated antigen 1 309 34342 4.83 0 Cytoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation through interaction with SNW1 and recruiting histone deactelyase HDAC1. May inhibit notch intracellular domain (NICD) transactivation. May play a role in embryonal development and tumor transformation or aspects of tumor progression. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes. NA NA NA PE1 X +NX_P43356 Melanoma-associated antigen 2 314 35055 4.7 0 Nucleus;PML body NA Reduces p53/TP53 transactivation function through recruitment of HDAC3 to p53/TP53 transcription sites. Also represses p73/TP73 activity. Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination by TRIM28 potentially in presence of Ubl-conjugating enzyme UBE2H. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May play a role in embryonal development and tumor transformation or aspects of tumor progression. In vitro promotes cell viability in melanoma cell lines. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes. Negatively regulates acetylation and sumoylation of PML and represses PML-induced p53/TP53 acetylation and activation. NA NA NA PE1 X +NX_P43357 Melanoma-associated antigen 3 314 34747 4.57 0 NA NA Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. May enhance ubiquitin ligase activity of TRIM28 and stimulate p53/TP53 ubiquitination by TRIM28. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May play a role in embryonal development and tumor transformation or aspects of tumor progression. In vitro promotes cell viability in melanoma cell lines. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes. NA NA NA PE1 X +NX_P43358 Melanoma-associated antigen 4 317 34899 4.68 0 Cytosol;Nucleus speckle NA Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression. NA NA NA PE1 X +NX_P43359 Melanoma-associated antigen 5 124 13016 4.63 0 NA NA Not known, though may play a role tumor transformation or progression. In vitro promotes cell viability in melanoma cell lines. NA NA NA PE2 X +NX_P43360 Melanoma-associated antigen 6 314 34891 4.57 0 NA NA Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. May enhance ubiquitin ligase activity of TRIM28 and stimulate p53/TP53 ubiquitination by TRIM28. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May play a role in tumor transformation or aspects of tumor progression. In vitro promotes cell viability in melanoma cell lines. NA NA NA PE1 X +NX_P43361 Melanoma-associated antigen 8 318 35215 4.71 0 NA NA Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression. NA NA NA PE1 X +NX_P43362 Melanoma-associated antigen 9 315 35088 4.49 0 Golgi apparatus;Nucleoplasm NA Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression. NA NA NA PE1 X +NX_P43363 Melanoma-associated antigen 10 369 40780 4.32 0 Nucleoplasm;Cytosol;Nucleus NA Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression. NA NA NA PE1 X +NX_P43364 Melanoma-associated antigen 11 429 48129 4.69 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Acts as androgen receptor coregulator that increases androgen receptor activity by modulating the receptors interdomain interaction. May play a role in embryonal development and tumor transformation or aspects of tumor progression. NA NA NA PE1 X +NX_P43365 Melanoma-associated antigen 12 314 34836 4.71 0 NA NA Not known, though may play a role tumor transformation or progression. In vitro promotes cell viability in melanoma cell lines. NA NA NA PE1 X +NX_P43366 Melanoma-associated antigen B1 347 39037 8.56 0 NA NA NA NA NA NA PE1 X +NX_P43378 Tyrosine-protein phosphatase non-receptor type 9 593 68020 8.19 0 Cytoplasm;Cytoplasmic vesicle NA Protein-tyrosine phosphatase that could participate in the transfer of hydrophobic ligands or in functions of the Golgi apparatus. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class 3 subfamily. Interleukin-37 signaling PE1 15 +NX_P43403 Tyrosine-protein kinase ZAP-70 619 69872 7.78 0 Cytoplasm;Cell membrane Autoimmune disease, multisystem, infantile-onset, 2;Immunodeficiency 48 Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates motility, adhesion and cytokine expression of mature T-cells, as well as thymocyte development. Contributes also to the development and activation of primary B-lymphocytes. When antigen presenting cells (APC) activate T-cell receptor (TCR), a serie of phosphorylations lead to the recruitment of ZAP70 to the doubly phosphorylated TCR component CD247/CD3Z through ITAM motif at the plasma membrane. This recruitment serves to localization to the stimulated TCR and to relieve its autoinhibited conformation. Release of ZAP70 active conformation is further stabilized by phosphorylation mediated by LCK. Subsequently, ZAP70 phosphorylates at least 2 essential adapter proteins: LAT and LCP2. In turn, a large number of signaling molecules are recruited and ultimately lead to lymphokine production, T-cell proliferation and differentiation. Furthermore, ZAP70 controls cytoskeleton modifications, adhesion and mobility of T-lymphocytes, thus ensuring correct delivery of effectors to the APC. ZAP70 is also required for TCR-CD247/CD3Z internalization and degradation through interaction with the E3 ubiquitin-protein ligase CBL and adapter proteins SLA and SLA2. Thus, ZAP70 regulates both T-cell activation switch on and switch off by modulating TCR expression at the T-cell surface. During thymocyte development, ZAP70 promotes survival and cell-cycle progression of developing thymocytes before positive selection (when cells are still CD4/CD8 double negative). Additionally, ZAP70-dependent signaling pathway may also contribute to primary B-cells formation and activation through B-cell receptor (BCR). Phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation. Phosphorylation of Tyr-315 and Tyr-319 are essential for ZAP70 positive function on T-lymphocyte activation whereas Tyr-292 has a negative regulatory role. Within the C-terminal kinase domain, Tyr-492 and Tyr-493 are phosphorylated after TCR induction, Tyr-492 playing a negative regulatory role and Tyr-493 a positive. Tyr-493 is dephosphorylated by PTN22.;Ubiquitinated in response to T cell activation. Deubiquitinated by OTUD7B. Belongs to the protein kinase superfamily. Tyr protein kinase family. SYK/ZAP-70 subfamily. Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;Primary immunodeficiency;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules PE1 2 +NX_P43405 Tyrosine-protein kinase SYK 635 72066 8.43 0 Cytoplasmic vesicle;Cytosol;Cell membrane NA Non-receptor tyrosine kinase which mediates signal transduction downstream of a variety of transmembrane receptors including classical immunoreceptors like the B-cell receptor (BCR). Regulates several biological processes including innate and adaptive immunity, cell adhesion, osteoclast maturation, platelet activation and vascular development. Assembles into signaling complexes with activated receptors at the plasma membrane via interaction between its SH2 domains and the receptor tyrosine-phosphorylated ITAM domains. The association with the receptor can also be indirect and mediated by adapter proteins containing ITAM or partial hemITAM domains. The phosphorylation of the ITAM domains is generally mediated by SRC subfamily kinases upon engagement of the receptor. More rarely signal transduction via SYK could be ITAM-independent. Direct downstream effectors phosphorylated by SYK include VAV1, PLCG1, PI-3-kinase, LCP2 and BLNK. Initially identified as essential in B-cell receptor (BCR) signaling, it is necessary for the maturation of B-cells most probably at the pro-B to pre-B transition. Activated upon BCR engagement, it phosphorylates and activates BLNK an adapter linking the activated BCR to downstream signaling adapters and effectors. It also phosphorylates and activates PLCG1 and the PKC signaling pathway. It also phosphorylates BTK and regulates its activity in B-cell antigen receptor (BCR)-coupled signaling. In addition to its function downstream of BCR plays also a role in T-cell receptor signaling. Plays also a crucial role in the innate immune response to fungal, bacterial and viral pathogens. It is for instance activated by the membrane lectin CLEC7A. Upon stimulation by fungal proteins, CLEC7A together with SYK activates immune cells inducing the production of ROS. Also activates the inflammasome and NF-kappa-B-mediated transcription of chemokines and cytokines in presence of pathogens. Regulates neutrophil degranulation and phagocytosis through activation of the MAPK signaling cascade (By similarity). Required for the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770). Also mediates the activation of dendritic cells by cell necrosis stimuli. Also involved in mast cells activation. Involved in interleukin-3/IL3-mediated signaling pathway in basophils (By similarity). Also functions downstream of receptors mediating cell adhesion. Relays for instance, integrin-mediated neutrophils and macrophages activation and P-selectin receptor/SELPG-mediated recruitment of leukocytes to inflammatory loci. Plays also a role in non-immune processes. It is for instance involved in vascular development where it may regulate blood and lymphatic vascular separation. It is also required for osteoclast development and function. Functions in the activation of platelets by collagen, mediating PLCG2 phosphorylation and activation. May be coupled to the collagen receptor by the ITAM domain-containing FCER1G. Also activated by the membrane lectin CLEC1B that is required for activation of platelets by PDPN/podoplanin. Involved in platelet adhesion being activated by ITGB3 engaged by fibrinogen. Together with CEACAM20, enhances production of the cytokine CXCL8/IL-8 via the NFKB pathway and may thus have a role in the intestinal immune response (By similarity). Ubiquitinated by CBLB after BCR activation; which promotes proteasomal degradation.;Autophosphorylated. Phosphorylated on tyrosine residues by LYN following receptors engagement. Phosphorylation on Tyr-323 creates a binding site for CBL, an adapter protein that serves as a negative regulator of BCR-stimulated calcium ion signaling. Phosphorylation at Tyr-348 creates a binding site for VAV1. Phosphorylation on Tyr-348 and Tyr-352 enhances the phosphorylation and activation of phospholipase C-gamma and the early phase of calcium ion mobilization via a phosphoinositide 3-kinase-independent pathway (By similarity). Phosphorylated on tyrosine residues in response to IL15 (PubMed:15123770). Phosphorylation on Ser-297 is very common, it peaks 5 minutes after BCR stimulation, and creates a binding site for YWHAG. Phosphorylation at Tyr-630 creates a binding site for BLNK. Dephosphorylated by PTPN6.;SYK is phosphorylated by FGR (Phosphotyrosine:PTM-0255);SYK is phosphorylated by PAK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SYK is phosphorylated by JAK1 Belongs to the protein kinase superfamily. Tyr protein kinase family. SYK/ZAP-70 subfamily. Osteoclast differentiation;Natural killer cell mediated cytotoxicity;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Tuberculosis;CLEC7A (Dectin-1) signaling;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;GPVI-mediated activation cascade;DAP12 signaling;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Dectin-2 family;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;FCGR activation;Fc epsilon receptor (FCERI) signaling;Regulation of signaling by CBL;Integrin alphaIIb beta3 signaling;Interleukin-2 signaling PE1 9 +NX_P43487 Ran-specific GTPase-activating protein 201 23310 5.19 0 Cytoplasm;Cytosol NA Plays a role in RAN-dependent nucleocytoplasmic transport. Alleviates the TNPO1-dependent inhibition of RAN GTPase activity and mediates the dissociation of RAN from proteins involved in transport into the nucleus (By similarity). Induces a conformation change in the complex formed by XPO1 and RAN that triggers the release of the nuclear export signal of cargo proteins (PubMed:20485264). Promotes the disassembly of the complex formed by RAN and importin beta. Promotes dissociation of RAN from a complex with KPNA2 and CSE1L (By similarity). Required for normal mitotic spindle assembly and normal progress through mitosis via its effect on RAN (PubMed:17671426). Does not increase the RAN GTPase activity by itself, but increases GTP hydrolysis mediated by RANGAP1 (PubMed:7882974). Inhibits RCC1-dependent exchange of RAN-bound GDP by GTP (PubMed:7882974, PubMed:7616957). NA Belongs to the RANBP1 family. HTLV-I infection;Rev-mediated nuclear export of HIV RNA PE1 22 +NX_P43489 Tumor necrosis factor receptor superfamily member 4 277 29341 8.68 1 Membrane Immunodeficiency 16 (Microbial infection) Acts as a receptor for human herpesvirus 6B/HHV-6B.;Receptor for TNFSF4/OX40L/GP34. Is a costimulatory molecule implicated in long-term T-cell immunity. NA NA Cytokine-cytokine receptor interaction;TNFs bind their physiological receptors PE1 1 +NX_P43490 Nicotinamide phosphoribosyltransferase 491 55521 6.69 0 Cytoplasm;Nucleus speckle;Cell junction;Secreted;Nucleus NA Catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, an intermediate in the biosynthesis of NAD. It is the rate limiting component in the mammalian NAD biosynthesis pathway. The secreted form behaves both as a cytokine with immunomodulating properties and an adipokine with anti-diabetic properties, it has no enzymatic activity, partly because of lack of activation by ATP, which has a low level in extracellular space and plasma. Plays a role in the modulation of circadian clock function. NAMPT-dependent oscillatory production of NAD regulates oscillation of clock target gene expression by releasing the core clock component: CLOCK-ARNTL/BMAL1 heterodimer from NAD-dependent SIRT1-mediated suppression (By similarity). NA Belongs to the NAPRTase family. Cofactor biosynthesis; NAD(+) biosynthesis; nicotinamide D-ribonucleotide from 5-phospho-alpha-D-ribose 1-diphosphate and nicotinamide: step 1/1.;Nicotinate and nicotinamide metabolism;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Nicotinamide salvaging PE1 7 +NX_P43626 Killer cell immunoglobulin-like receptor 2DL1 348 38505 6.34 1 Cell membrane NA Receptor on natural killer (NK) cells for some HLA-C alleles such as w4 and w6. Inhibits the activity of NK cells thus preventing cell lysis. NA Belongs to the immunoglobulin superfamily. Antigen processing and presentation;Natural killer cell mediated cytotoxicity;Graft-versus-host disease;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_P43627 Killer cell immunoglobulin-like receptor 2DL2 348 38472 6.46 1 Cell membrane NA Receptor on natural killer (NK) cells for HLA-Cw1, 3, 7, and 8 allotypes. Inhibits the activity of NK cells thus preventing cell lysis. NA Belongs to the immunoglobulin superfamily. Antigen processing and presentation;Natural killer cell mediated cytotoxicity;Graft-versus-host disease;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_P43628 Killer cell immunoglobulin-like receptor 2DL3 341 37886 6.23 1 Cell membrane NA Receptor on natural killer (NK) cells for HLA-C alleles (HLA-Cw1, HLA-Cw3 and HLA-Cw7). Inhibits the activity of NK cells thus preventing cell lysis. NA Belongs to the immunoglobulin superfamily. Antigen processing and presentation;Natural killer cell mediated cytotoxicity;Graft-versus-host disease;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_P43629 Killer cell immunoglobulin-like receptor 3DL1 444 49098 9.02 1 Cell membrane NA Receptor on natural killer (NK) cells for HLA Bw4 allele. Inhibits the activity of NK cells thus preventing cell lysis. NA Belongs to the immunoglobulin superfamily. Antigen processing and presentation;Natural killer cell mediated cytotoxicity;Graft-versus-host disease;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_P43630 Killer cell immunoglobulin-like receptor 3DL2 455 50230 8.78 1 Cell membrane NA Receptor on natural killer (NK) cells and T cells for MHC class I molecules (PubMed:24018270, PubMed:28636952). Upon binding of peptide-free HLA-F open conformer, negatively regulates NK and T cell effector functions (PubMed:24018270). Acts as a receptor on astrocytes for HLA-F. Through interaction with HLA-F, may protect motor neurons from astrocyte-induced toxicity (PubMed:26928464). NA Belongs to the immunoglobulin superfamily. Antigen processing and presentation;Natural killer cell mediated cytotoxicity;Graft-versus-host disease;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_P43631 Killer cell immunoglobulin-like receptor 2DS2 304 33502 6.13 1 Cell membrane NA Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells. NA Belongs to the immunoglobulin superfamily. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;DAP12 interactions PE1 19 +NX_P43632 Killer cell immunoglobulin-like receptor 2DS4 304 33583 5.98 1 Cell membrane NA Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells. NA Belongs to the immunoglobulin superfamily. Antigen processing and presentation;Natural killer cell mediated cytotoxicity;DAP12 interactions PE1 19 +NX_P43652 Afamin 599 69069 5.64 0 Secreted NA Functions as carrier for hydrophobic molecules in body fluids (Probable). Essential for the solubility and activity of lipidated Wnt family members, including WNT1, WNT2B, WNT3, WNT3A, WNT5A, WNT7A, WNT7B, WNT8, WNT9A, WNT9B, WNT10A and WNT10B (PubMed:26902720). Binds vitamin E (PubMed:15952736, PubMed:12463752). May transport vitamin E in body fluids under conditions where the lipoprotein system is not sufficient (PubMed:15952736). May be involved in the transport of vitamin E across the blood-brain barrier (PubMed:19046407). N-glycosylated; more than 90% of the glycans are sialylated. Belongs to the ALB/AFP/VDB family. NA PE1 4 +NX_P43657 Lysophosphatidic acid receptor 6 344 39392 9.22 7 Cell membrane Hypotrichosis 8;Woolly hair autosomal recessive 1 with or without hypotrichosis Binds to oleoyl-L-alpha-lysophosphatidic acid (LPA). Intracellular cAMP is involved in the receptor activation. Important for the maintenance of hair growth and texture. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (q) signalling events;P2Y receptors PE1 13 +NX_P43681 Neuronal acetylcholine receptor subunit alpha-4 627 69957 6.81 4 Postsynaptic cell membrane;Cell membrane Epilepsy, nocturnal frontal lobe, 1 After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodium ions. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-4/CHRNA4 sub-subfamily. Neuroactive ligand-receptor interaction;Cholinergic synapse;Highly calcium permeable postsynaptic nicotinic acetylcholine receptors;Highly sodium permeable acetylcholine nicotinic receptors;Highly calcium permeable nicotinic acetylcholine receptors PE1 20 +NX_P43686 26S proteasome regulatory subunit 6B 418 47366 5.09 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC4 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides. NA Belongs to the AAA ATPase family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 19 +NX_P43694 Transcription factor GATA-4 442 44565 9.39 0 Nucleus Ventricular septal defect 1;Atrioventricular septal defect 4;Testicular anomalies with or without congenital heart disease;Tetralogy of Fallot;Atrial septal defect 2 Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development and function (PubMed:24000169, PubMed:27984724). In cooperation with TBX5, it binds to cardiac super-enhancers and promotes cardiomyocyte gene expression, while it downregulates endocardial and endothelial gene expression (PubMed:27984724). Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac-specific gene expression. Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). Acts as a transcriptional activator of ANF in cooperation with NKX2-5 (By similarity). Promotes cardiac myocyte enlargement (PubMed:20081228). Required during testicular development (PubMed:21220346). May play a role in sphingolipid signaling by regulating the expression of sphingosine-1-phosphate degrading enzyme, spingosine-1-phosphate lyase (PubMed:15734735). Methylation at Lys-300 attenuates transcriptional activity. NA Factors involved in megakaryocyte development and platelet production;Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP);YAP1- and WWTR1 (TAZ)-stimulated gene expression;Physiological factors PE1 8 +NX_P43699 Homeobox protein Nkx-2.1 371 38596 9.72 0 Golgi apparatus;Nucleus;Cytoplasmic vesicle Thyroid cancer, non-medullary, 1;Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction;Chorea, hereditary benign Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis. Forms a regulatory loop with GRHL2 that coordinates lung epithelial cell morphogenesis and differentiation. Activates the transcription of GNRHR and plays a role in enhancing the circadian oscillation of its gene expression. Represses the transcription of the circadian transcriptional repressor NR1D1 (By similarity). Phosphorylated on serine residues by STK3/MST2.;NKX2-1 is phosphorylated by STK3 Belongs to the NK-2 homeobox family. NA PE1 14 +NX_P43897 Elongation factor Ts, mitochondrial 325 35391 8.62 0 Nucleoplasm;Mitochondrion Combined oxidative phosphorylation deficiency 3 Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF-Tu.GTP complex up to the GTP hydrolysis stage on the ribosome. NA Belongs to the EF-Ts family. Mitochondrial translation elongation PE1 12 +NX_P45378 Troponin T, fast skeletal muscle 269 31825 5.71 0 NA Arthrogryposis, distal, 2B2 Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. NA Belongs to the troponin T family. Striated Muscle Contraction PE1 11 +NX_P45379 Troponin T, cardiac muscle 298 35924 4.94 0 Nucleoplasm;Focal adhesion;Nucleolus Cardiomyopathy, dilated 1D;Cardiomyopathy, familial restrictive 3;Cardiomyopathy, familial hypertrophic 2 Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. Phosphorylation at Thr-213 by PRKCA induces significant reduction in myofilament calcium sensitivity and actomyosin ATPase activity.;TNNT2 is phosphorylated by PRKCE (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the troponin T family. Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;Striated Muscle Contraction PE1 1 +NX_P45381 Aspartoacylase 313 35735 6.06 0 Cytoplasm;Cytosol;Nucleus Canavan disease Catalyzes the deacetylation of N-acetylaspartic acid (NAA) to produce acetate and L-aspartate. NAA occurs in high concentration in brain and its hydrolysis NAA plays a significant part in the maintenance of intact white matter. In other tissues it act as a scavenger of NAA from body fluids. NA Belongs to the AspA/AstE family. Aspartoacylase subfamily. Alanine, aspartate and glutamate metabolism;Histidine metabolism;Aspartate and asparagine metabolism PE1 17 +NX_P45452 Collagenase 3 471 53820 5.32 0 Extracellular matrix;Secreted Metaphyseal anadysplasia 1;Spondyloepimetaphyseal dysplasia Missouri type;Metaphyseal dysplasia, Spahr type Plays a role in the degradation of extracellular matrix proteins including fibrillar collagen, fibronectin, TNC and ACAN. Cleaves triple helical collagens, including type I, type II and type III collagen, but has the highest activity with soluble type II collagen. Can also degrade collagen type IV, type XIV and type X. May also function by activating or degrading key regulatory proteins, such as TGFB1 and CCN2. Plays a role in wound healing, tissue remodeling, cartilage degradation, bone development, bone mineralization and ossification. Required for normal embryonic bone development and ossification. Plays a role in the healing of bone fractures via endochondral ossification. Plays a role in wound healing, probably by a mechanism that involves proteolytic activation of TGFB1 and degradation of CCN2. Plays a role in keratinocyte migration during wound healing. May play a role in cell migration and in tumor cell invasion. N-glycosylated.;Tyrosine phosphorylated by PKDCC/VLK.;The proenzyme is activated by removal of the propeptide; this cleavage can be effected by other matrix metalloproteinases, such as MMP2, MMP3 and MMP14 and may involve several cleavage steps. Cleavage can also be autocatalytic, after partial maturation by another protease or after treatment with 4-aminophenylmercuric acetate (APMA) (in vitro). Belongs to the peptidase M10A family. Degradation of the extracellular matrix;Collagen degradation;Assembly of collagen fibrils and other multimeric structures;Activation of Matrix Metalloproteinases;RUNX2 regulates genes involved in cell migration PE1 11 +NX_P45844 ATP-binding cassette sub-family G member 1 678 75592 8.02 6 Golgi apparatus;Endoplasmic reticulum membrane;Cell membrane;Golgi apparatus membrane;Cytoplasmic vesicle NA Catalyzes the efflux of phospholipids such as sphingomyelin, cholesterol and its oxygenated derivatives like 7beta-hydroxycholesterol and this transport is coupled to hydrlysis of ATP (PubMed:17408620, PubMed:24576892). The lipid efflux is ALB-dependent (PubMed:16702602). Is an active component of the macrophage lipid export complex. Could also be involved in intracellular lipid transport processes. The role in cellular lipid homeostasis may not be limited to macrophages. Prevents cell death by transporting cytotoxic 7beta-hydroxycholesterol (PubMed:17408620). Palmitoylation at Cys-315 seems important for trafficking from the endoplasmic reticulum. Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. ABC transporters;ABC transporters in lipid homeostasis;HDL remodeling PE1 21 +NX_P45877 Peptidyl-prolyl cis-trans isomerase C 212 22763 8.48 0 Cytoplasm NA PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. NA Belongs to the cyclophilin-type PPIase family. NA PE1 5 +NX_P45880 Voltage-dependent anion-selective channel protein 2 294 31567 7.5 19 Mitochondrion outer membrane;Mitochondrion NA Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules. The channel adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV. The open state has a weak anion selectivity whereas the closed state is cation-selective. Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. Belongs to the eukaryotic mitochondrial porin family. Calcium signaling pathway;Parkinson's disease;Huntington's disease;HTLV-I infection;Ub-specific processing proteases;Mitochondrial calcium ion transport PE1 10 +NX_P45954 Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial 432 47485 6.53 0 Mitochondrion matrix;Mitochondrion Short/branched-chain acyl-CoA dehydrogenase deficiency Has greatest activity toward short branched chain acyl-CoA derivative such as (s)-2-methylbutyryl-CoA, isobutyryl-CoA, and 2-methylhexanoyl-CoA as well as toward short straight chain acyl-CoAs such as butyryl-CoA and hexanoyl-CoA. Can use valproyl-CoA as substrate and may play a role in controlling the metabolic flux of valproic acid in the development of toxicity of this agent. NA Belongs to the acyl-CoA dehydrogenase family. Lipid metabolism; mitochondrial fatty acid beta-oxidation.;Fatty acid metabolism;Valine, leucine and isoleucine degradation;Metabolic pathways;Branched-chain amino acid catabolism PE1 10 +NX_P45973 Chromobox protein homolog 5 191 22225 5.71 0 Nucleoplasm;Centromere;Nucleus;Chromosome NA Component of heterochromatin that recognizes and binds histone H3 tails methylated at 'Lys-9' (H3K9me), leading to epigenetic repression. In contrast, it is excluded from chromatin when 'Tyr-41' of histone H3 is phosphorylated (H3Y41ph). Can interact with lamin-B receptor (LBR). This interaction can contribute to the association of the heterochromatin with the inner nuclear membrane. Involved in the formation of functional kinetochore through interaction with MIS12 complex proteins. Ubiquitinated.;Phosphorylation of HP1 and LBR may be responsible for some of the alterations in chromatin organization and nuclear structure which occur at various times during the cell cycle (By similarity). Phosphorylated during interphase and possibly hyper-phosphorylated during mitosis. NA Factors involved in megakaryocyte development and platelet production;SUMOylation of chromatin organization proteins;Transcriptional Regulation by E2F6 PE1 12 +NX_P45974 Ubiquitin carboxyl-terminal hydrolase 5 858 95786 4.91 0 Nucleoplasm;Cytosol NA Cleaves linear and branched multiubiquitin polymers with a marked preference for branched polymers. Involved in unanchored 'Lys-48'-linked polyubiquitin disassembly. Binds linear and 'Lys-63'-linked polyubiquitin with a lower affinity. Knock-down of USP5 causes the accumulation of p53/TP53 and an increase in p53/TP53 transcriptional activity because the unanchored polyubiquitin that accumulates is able to compete with ubiquitinated p53/TP53 but not with MDM2 for proteasomal recognition. NA Belongs to the peptidase C19 family. Ub-specific processing proteases;Synthesis of active ubiquitin: roles of E1 and E2 enzymes PE1 12 +NX_P45983 Mitogen-activated protein kinase 8 427 48296 6.43 0 Cytoplasm;Nucleus NA JNK1 isoforms display different binding patterns: beta-1 preferentially binds to c-Jun, whereas alpha-1, alpha-2, and beta-2 have a similar low level of binding to both c-Jun or ATF2. However, there is no correlation between binding and phosphorylation, which is achieved at about the same efficiency by all isoforms.;Serine/threonine-protein kinase involved in various processes such as cell proliferation, differentiation, migration, transformation and programmed cell death. Extracellular stimuli such as proinflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK8/JNK1. In turn, MAPK8/JNK1 phosphorylates a number of transcription factors, primarily components of AP-1 such as JUN, JDP2 and ATF2 and thus regulates AP-1 transcriptional activity. Phosphorylates the replication licensing factor CDT1, inhibiting the interaction between CDT1 and the histone H4 acetylase HBO1 to replication origins. Loss of this interaction abrogates the acetylation required for replication initiation. Promotes stressed cell apoptosis by phosphorylating key regulatory factors including p53/TP53 and Yes-associates protein YAP1. In T-cells, MAPK8 and MAPK9 are required for polarized differentiation of T-helper cells into Th1 cells. Contributes to the survival of erythroid cells by phosphorylating the antagonist of cell death BAD upon EPO stimulation. Mediates starvation-induced BCL2 phosphorylation, BCL2 dissociation from BECN1, and thus activation of autophagy. Phosphorylates STMN2 and hence regulates microtubule dynamics, controlling neurite elongation in cortical neurons. In the developing brain, through its cytoplasmic activity on STMN2, negatively regulates the rate of exit from multipolar stage and of radial migration from the ventricular zone. Phosphorylates several other substrates including heat shock factor protein 4 (HSF4), the deacetylase SIRT1, ELK1, or the E3 ligase ITCH. Phosphorylates the CLOCK-ARNTL/BMAL1 heterodimer and plays a role in the regulation of the circadian clock (PubMed:22441692). Phosphorylates the heat shock transcription factor HSF1, suppressing HSF1-induced transcriptional activity (PubMed:10747973). Phosphorylates POU5F1, which results in the inhibition of POU5F1's transcriptional activity and enhances its proteosomal degradation (By similarity). Dually phosphorylated on Thr-183 and Tyr-185 by MAP2K7 and MAP2K4, which activates the enzyme (PubMed:11062067). Phosphorylated by TAOK2 (PubMed:17158878). May be phosphorylated at Thr-183 and Tyr-185 by MAP3K1/MEKK1 (PubMed:17761173).;MAPK8 is phosphorylated by PRKDC (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. MAPK signaling pathway;ErbB signaling pathway;Protein processing in endoplasmic reticulum;Wnt signaling pathway;Osteoclast differentiation;Focal adhesion;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Fc epsilon RI signaling pathway;Neurotrophin signaling pathway;Dopaminergic synapse;Insulin signaling pathway;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Adipocytokine signaling pathway;Type II diabetes mellitus;Epithelial cell signaling in Helicobacter pylori infection;Shigellosis;Salmonella infection;Pertussis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Tuberculosis;Hepatitis C;Influenza A;HTLV-I infection;Herpes simplex infection;Pathways in cancer;Colorectal cancer;Pancreatic cancer;DSCAM interactions;Oxidative Stress Induced Senescence;NRAGE signals death through JNK;FCERI mediated MAPK activation;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;Activation of the AP-1 family of transcription factors;NRIF signals cell death from the nucleus;Activation of BIM and translocation to mitochondria;Activation of BMF and translocation to mitochondria;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Interleukin-38 signaling PE1 10 +NX_P45984 Mitogen-activated protein kinase 9 424 48139 5.41 0 Cytoplasm;Nucleus NA MAPK9 isoforms display different binding patterns: alpha-1 and alpha-2 preferentially bind to JUN, whereas beta-1 and beta-2 bind to ATF2. However, there is no correlation between binding and phosphorylation, which is achieved at about the same efficiency by all isoforms. JUNB is not a substrate for JNK2 alpha-2, and JUND binds only weakly to it.;Serine/threonine-protein kinase involved in various processes such as cell proliferation, differentiation, migration, transformation and programmed cell death. Extracellular stimuli such as proinflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK9/JNK2. In turn, MAPK9/JNK2 phosphorylates a number of transcription factors, primarily components of AP-1 such as JUN and ATF2 and thus regulates AP-1 transcriptional activity. In response to oxidative or ribotoxic stresses, inhibits rRNA synthesis by phosphorylating and inactivating the RNA polymerase 1-specific transcription initiation factor RRN3. Promotes stressed cell apoptosis by phosphorylating key regulatory factors including TP53 and YAP1. In T-cells, MAPK8 and MAPK9 are required for polarized differentiation of T-helper cells into Th1 cells. Upon T-cell receptor (TCR) stimulation, is activated by CARMA1, BCL10, MAP2K7 and MAP3K7/TAK1 to regulate JUN protein levels. Plays an important role in the osmotic stress-induced epithelial tight-junctions disruption. When activated, promotes beta-catenin/CTNNB1 degradation and inhibits the canonical Wnt signaling pathway. Participates also in neurite growth in spiral ganglion neurons. Phosphorylates the CLOCK-ARNTL/BMAL1 heterodimer and plays a role in the regulation of the circadian clock (PubMed:22441692). Phosphorylates POU5F1, which results in the inhibition of POU5F1's transcriptional activity and enhances its proteosomal degradation (By similarity). Dually phosphorylated on Thr-183 and Tyr-185 by MAP2K7 and MAP2K4, which activates the enzyme. Autophosphorylated in vitro.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. MAPK signaling pathway;ErbB signaling pathway;Protein processing in endoplasmic reticulum;Wnt signaling pathway;Osteoclast differentiation;Focal adhesion;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;T cell receptor signaling pathway;Fc epsilon RI signaling pathway;Neurotrophin signaling pathway;Dopaminergic synapse;Insulin signaling pathway;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Adipocytokine signaling pathway;Type II diabetes mellitus;Epithelial cell signaling in Helicobacter pylori infection;Oxidative Stress Induced Senescence;FCERI mediated MAPK activation;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;Activation of the AP-1 family of transcription factors PE1 5 +NX_P45985 Dual specificity mitogen-activated protein kinase kinase 4 399 44288 8.28 0 Cytoplasm;Nucleoplasm;Cell junction;Nucleus NA Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. With MAP2K7/MKK7, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3. MAP2K4/MKK4 and MAP2K7/MKK7 both activate the JNKs by phosphorylation, but they differ in their preference for the phosphorylation site in the Thr-Pro-Tyr motif. MAP2K4 shows preference for phosphorylation of the Tyr residue and MAP2K7/MKK7 for the Thr residue. The phosphorylation of the Thr residue by MAP2K7/MKK7 seems to be the prerequisite for JNK activation at least in response to proinflammatory cytokines, while other stimuli activate both MAP2K4/MKK4 and MAP2K7/MKK7 which synergistically phosphorylate JNKs. MAP2K4 is required for maintaining peripheral lymphoid homeostasis. The MKK/JNK signaling pathway is also involved in mitochondrial death signaling pathway, including the release cytochrome c, leading to apoptosis. Whereas MAP2K7/MKK7 exclusively activates JNKs, MAP2K4/MKK4 additionally activates the p38 MAPKs MAPK11, MAPK12, MAPK13 and MAPK14. Activated by phosphorylation on Ser-257 and Thr-261 by MAP kinase kinase kinases (MAP3Ks).;MAP2K4 is phosphorylated by MAP3K1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAP2K4 is phosphorylated by MAP3K9 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAP2K4 is phosphorylated by MAP3K4 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAP2K4 is phosphorylated by MAP3K5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAP2K4 is phosphorylated by MAP3K8 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. MAPK signaling pathway;ErbB signaling pathway;Toll-like receptor signaling pathway;Fc epsilon RI signaling pathway;GnRH signaling pathway;Epithelial cell signaling in Helicobacter pylori infection;Chagas disease (American trypanosomiasis);Influenza A;HTLV-I infection;Oxidative Stress Induced Senescence;Uptake and function of anthrax toxins;FCERI mediated MAPK activation;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;MAP3K8 (TPL2)-dependent MAPK1/3 activation PE1 17 +NX_P46013 Proliferation marker protein Ki-67 3256 358694 9.49 0 Nucleoplasm;Nucleus;Nucleolus;Chromosome NA Required to maintain individual mitotic chromosomes dispersed in the cytoplasm following nuclear envelope disassembly (PubMed:27362226). Associates with the surface of the mitotic chromosome, the perichromosomal layer, and covers a substantial fraction of the chromosome surface (PubMed:27362226). Prevents chromosomes from collapsing into a single chromatin mass by forming a steric and electrostatic charge barrier: the protein has a high net electrical charge and acts as a surfactant, dispersing chromosomes and enabling independent chromosome motility (PubMed:27362226). Binds DNA, with a preference for supercoiled DNA and AT-rich DNA (PubMed:10878551). Does not contribute to the internal structure of mitotic chromosomes (By similarity). May play a role in chromatin organization (PubMed:24867636). It is however unclear whether it plays a direct role in chromatin organization or whether it is an indirect consequence of its function in maintaining mitotic chromosomes dispersed (Probable). Phosphorylated. Hyperphosphorylated in mitosis (PubMed:10502411, PubMed:10653604). Hyperphosphorylated form does not bind DNA. NA NA PE1 10 +NX_P46019 Phosphorylase b kinase regulatory subunit alpha, liver isoform 1235 138408 5.99 0 Nucleoplasm;Cell membrane Glycogen storage disease 9A Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin. Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated. Belongs to the phosphorylase b kinase regulatory chain family. Glycan biosynthesis; glycogen metabolism.;Calcium signaling pathway;Insulin signaling pathway;Glycogen breakdown (glycogenolysis) PE1 X +NX_P46020 Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform 1223 137312 5.8 0 Cytoplasmic vesicle;Cell membrane Glycogen storage disease 9D Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin. Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated. Belongs to the phosphorylase b kinase regulatory chain family. Glycan biosynthesis; glycogen metabolism.;Calcium signaling pathway;Insulin signaling pathway;Glycogen breakdown (glycogenolysis) PE1 X +NX_P46059 Solute carrier family 15 member 1 708 78806 8.72 12 Membrane;Nucleoplasm;Cytosol NA Proton-coupled intake of oligopeptides of 2 to 4 amino acids with a preference for dipeptides. May constitute a major route for the absorption of protein digestion end-products. NA Belongs to the PTR2/POT transporter (TC 2.A.17) family. Protein digestion and absorption;Proton/oligopeptide cotransporters PE1 13 +NX_P46060 Ran GTPase-activating protein 1 587 63542 4.63 0 Cytoplasm;Nucleus membrane;Nucleoplasm;Nucleus envelope;Cytoplasmic vesicle;Cytosol;Spindle;Kinetochore NA GTPase activator for RAN (PubMed:8146159, PubMed:8896452, PubMed:16428860). Converts cytoplasmic GTP-bound RAN to GDP-bound RAN, which is essential for RAN-mediated nuclear import and export (PubMed:8896452, PubMed:27160050). Mediates dissociation of cargo from nuclear export complexes containing XPO1, RAN and RANBP2 after nuclear export (PubMed:27160050). Phosphorylation occurs before nuclear envelope breakdown and continues throughout mitosis. Phosphorylated by the M-phase kinase cyclin B/Cdk1, in vitro. Differential timimg of dephosphorylation occurs during phases of mitosis. The phosphorylated form remains associated with RANBP2/NUP358 and the SUMO E2-conjugating enzyme, UBE2I, on nuclear pore complex (NPC) diassembly and during mitosis.;Sumoylated (PubMed:11854305, PubMed:15037602, PubMed:26304119, PubMed:27160050). Sumoylation is necessary for targeting to the nuclear envelope (NE), and for association with mitotic spindles and kinetochores during mitosis (PubMed:11854305). Also required for interaction with RANBP2 and is mediated by UBE2I (PubMed:27160050). Belongs to the RNA1 family. RNA transport;Separation of Sister Chromatids;Rev-mediated nuclear export of HIV RNA;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;SUMOylation of DNA replication proteins PE1 22 +NX_P46063 ATP-dependent DNA helicase Q1 649 73457 8.13 0 Nucleoplasm;Nucleus NA DNA helicase that may play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. NA Belongs to the helicase family. RecQ subfamily. NA PE1 12 +NX_P46087 Probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase 812 89302 9.27 0 Nucleolus;Nucleus NA Involved in ribosomal large subunit assembly (PubMed:24120868). S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 4447 in 28S rRNA (Probable). May play a role in the regulation of the cell cycle and the increased nucleolar activity that is associated with the cell proliferation (Probable). Citrullinated by PADI4. Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. rRNA modification in the nucleus and cytosol;TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation PE1 12 +NX_P46089 G-protein coupled receptor 3 330 35010 8.4 7 Cell membrane NA Orphan receptor with constitutive G(s) signaling activity that activate cyclic AMP. Has a potential role in modulating a number of brain functions, including behavioral responses to stress (By similarity), amyloid-beta peptide generation in neurons and neurite outgrowth (By similarity). Maintains also meiotic arrest in oocytes (By similarity). NA Belongs to the G-protein coupled receptor 1 family. NA PE1 1 +NX_P46091 G-protein coupled receptor 1 355 41431 6.98 7 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA Receptor for the inflammation-associated leukocyte chemoattractant chemerin/RARRES2 suggesting a role for this receptor in the regulation of inflammation (PubMed:18165312). Receptor for TAFA1, mediates its effects on neuronal stem-cell proliferation and differentiation via the activation of ROCK/ERK and ROCK/STAT3 signaling pathway (By similarity).;(Microbial infection) Coreceptor for HIV-1. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 2 +NX_P46092 C-C chemokine receptor type 10 362 38416 9.85 7 Endoplasmic reticulum;Cell membrane NA Receptor for chemokines SCYA27 and SCYA28. Subsequently transduces a signal by increasing the intracellular calcium ions level and stimulates chemotaxis in a pre-B cell line. NA Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Intestinal immune network for IgA production;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 17 +NX_P46093 G-protein coupled receptor 4 362 40982 8.82 7 Cell membrane NA Proton-sensing receptor coupled to several G-proteins, including G(s), G(13) and G(q)/G(11) proteins, leading to cAMP production. NA Belongs to the G-protein coupled receptor 1 family. G alpha (q) signalling events;Class A/1 (Rhodopsin-like receptors) PE2 19 +NX_P46094 Chemokine XC receptor 1 333 38508 8.94 7 Cell membrane NA Receptor for chemokines SCYC1 and SCYC2. Subsequently transduces a signal by increasing the intracellular calcium ions level. Receptor for XCL1/Lymphotactin. NA Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (q) signalling events;Chemokine receptors bind chemokines PE1 3 +NX_P46095 G-protein coupled receptor 6 362 37881 7.61 7 Cell membrane NA Orphan receptor with constitutive G(s) signaling activity that activate cyclic AMP. Promotes neurite outgrowth and blocks myelin inhibition in neurons (By similarity). NA Belongs to the G-protein coupled receptor 1 family. NA PE1 6 +NX_P46098 5-hydroxytryptamine receptor 3A 478 55280 7.04 4 Cell membrane;Postsynaptic cell membrane NA This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses in neurons. It is a cation-specific, but otherwise relatively nonselective, ion channel. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3A sub-subfamily. Neurotransmitter receptors and postsynaptic signal transmission PE1 11 +NX_P46100 Transcriptional regulator ATRX 2492 282586 6.2 0 PML body;Telomere;Nucleus Alpha-thalassemia mental retardation syndrome, X-linked;Alpha-thalassemia myelodysplasia syndrome;Mental retardation-hypotonic facies syndrome, X-linked, 1 Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomeres. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomeres nor to increase expression of telomeric RNA in fibroblasts (PubMed:24500201). May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as negative regulator of chromatin incorporation of transcriptionally repressive histone H2AFY, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis. Binds to zinc-finger coding genes with atypical chromatin signatures and regulates its H3K9me3 levels. Forms a complex with ZNF274, TRIM28 and SETDB1 to facilitate the deposition and maintenance of H3K9me3 at the 3' exons of zinc-finger genes (PubMed:27029610). Phosphorylated at serine residues during mitose. Phosphorylation may promote the release from the nuclear matrix and progression to mitosis. Belongs to the SNF2/RAD54 helicase family. NA PE1 X +NX_P46108 Adapter molecule crk 304 33831 5.38 0 Cytoplasm;Cell membrane NA Regulates cell adhesion, spreading and migration. Mediates attachment-induced MAPK8 activation, membrane ruffling and cell motility in a Rac-dependent manner. Involved in phagocytosis of apoptotic cells and cell motility via its interaction with DOCK1 and DOCK4. May regulate the EFNA5-EPHA3 signaling. Proline isomerization at Pro-237 by PPIA acts as a switch between two conformations: an autoinhibitory conformation in the cis form, where the tandem SH3 domains interact intramolecularly, and an activated conformation in the trans form.;Is phosphorylated by KIT.;Phosphorylation of Crk-II (40 kDa) gives rise to a 42 kDa form.;Phosphorylated on Tyr-221 upon cell adhesion. Results in the negative regulation of the association with SH2- and SH3-binding partners, possibly by the formation of an intramolecular interaction of phosphorylated Tyr-221 with the SH2 domain. This leads finally to the down-regulation of the Crk signaling pathway.;CRK is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255);CRK is phosphorylated by FGFR1 Belongs to the CRK family. MAPK signaling pathway;ErbB signaling pathway;Chemokine signaling pathway;Focal adhesion;Fc gamma R-mediated phagocytosis;Neurotrophin signaling pathway;Regulation of actin cytoskeleton;Insulin signaling pathway;Bacterial invasion of epithelial cells;Shigellosis;Pathways in cancer;Renal cell carcinoma;Chronic myeloid leukemia;Regulation of actin dynamics for phagocytic cup formation;VEGFA-VEGFR2 Pathway;ARMS-mediated activation;Regulation of signaling by CBL;Downstream signal transduction;p130Cas linkage to MAPK signaling for integrins;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases;MET activates RAP1 and RAC1;MET receptor recycling PE1 17 +NX_P46109 Crk-like protein 303 33777 6.26 0 Nucleoplasm;Cytosol;Cell membrane NA May mediate the transduction of intracellular signals. NA Belongs to the CRK family. MAPK signaling pathway;ErbB signaling pathway;Chemokine signaling pathway;Focal adhesion;Fc gamma R-mediated phagocytosis;Neurotrophin signaling pathway;Regulation of actin cytoskeleton;Insulin signaling pathway;Bacterial invasion of epithelial cells;Shigellosis;Pathways in cancer;Renal cell carcinoma;Chronic myeloid leukemia;Regulation of signaling by CBL;Frs2-mediated activation;Downstream signal transduction;MET activates RAP1 and RAC1;MET receptor recycling;Erythropoietin activates RAS PE1 22 +NX_P46199 Translation initiation factor IF-2, mitochondrial 727 81317 6.71 0 Mitochondrion NA One of the essential components for the initiation of protein synthesis. Protects formylmethionyl-tRNA from spontaneous hydrolysis and promotes its binding to the 30S ribosomal subunits. Also involved in the hydrolysis of GTP during the formation of the 70S ribosomal complex. NA Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. IF-2 subfamily. Mitochondrial translation initiation PE1 2 +NX_P46379 Large proline-rich protein BAG6 1132 119409 5.4 0 Extracellular exosome;Nucleoplasm;Cytosol;Nucleus NA Released extracellularly via exosomes, it is a ligand of the natural killer/NK cells receptor NCR3 and stimulates NK cells cytotoxicity. It may thereby trigger NK cells cytotoxicity against neighboring tumor cells and immature myeloid dendritic cells (DC).;ATP-independent molecular chaperone preventing the aggregation of misfolded and hydrophobic patches-containing proteins (PubMed:21636303). Functions as part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, which maintains these client proteins in a soluble state and participates to their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20516149, PubMed:21636303, PubMed:21743475, PubMed:28104892). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20516149, PubMed:20676083, PubMed:28104892, PubMed:25535373). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated by RNF126, an E3 ubiquitin-protein ligase associated with BAG6 and are sorted to the proteasome (PubMed:24981174, PubMed:28104892, PubMed:27193484). SGTA which prevents the recruitment of RNF126 to BAG6 may negatively regulate the ubiquitination and the proteasomal degradation of client proteins (PubMed:23129660, PubMed:25179605, PubMed:27193484). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303). BAG6 is also required for selective ubiquitin-mediated degradation of defective nascent chain polypeptides by the proteasome. In this context, it may participate to the production of antigenic peptides and play a role in antigen presentation in immune response (By similarity). BAG6 is also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation. BAG6 may ensure the proper degradation of these proteins and thereby protects the endoplasmic reticulum from protein overload upon stress (PubMed:26565908). By inhibiting the polyubiquitination and subsequent proteasomal degradation of HSPA2 it may also play a role in the assembly of the synaptonemal complex during spermatogenesis (By similarity). Also positively regulates apoptosis by interacting with and stabilizing the proapoptotic factor AIFM1 (By similarity). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333).;Mediates ricin-induced apoptosis.;Involved in DNA damage-induced apoptosis: following DNA damage, accumulates in the nucleus and forms a complex with p300/EP300, enhancing p300/EP300-mediated p53/TP53 acetylation leading to increase p53/TP53 transcriptional activity (PubMed:17403783). When nuclear, may also act as a component of some chromatin regulator complex that regulates histone 3 'Lys-4' dimethylation (H3K4me2) (PubMed:18765639). Ricin can induce a cleavage by the caspase CASP3. The released C-terminal peptide induces apoptosis.;(Microbial infection) In case of infection by L.pneumophila, ubiquitinated by the SCF(LegU1) complex. NA Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 6 +NX_P46439 Glutathione S-transferase Mu 5 218 25675 6.91 0 Cytoplasm NA Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. NA Belongs to the GST superfamily. Mu family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Glutathione conjugation PE1 1 +NX_P46459 Vesicle-fusing ATPase 744 82594 6.52 0 Cytoplasm;Cytosol NA Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack. Seems to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin. Interaction with AMPAR subunit GRIA2 leads to influence GRIA2 membrane cycling (By similarity). Phosphorylation at Ser-569 interferes with homohexamerization. Belongs to the AAA ATPase family. Synaptic vesicle cycle;GABAergic synapse;Vasopressin-regulated water reabsorption;COPII-mediated vesicle transport;Trafficking of GluR2-containing AMPA receptors;Intra-Golgi traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;Retrograde transport at the Trans-Golgi-Network PE1 17 +NX_P46527 Cyclin-dependent kinase inhibitor 1B 198 22073 6.54 0 Cytoplasm;Nucleoplasm;Endosome;Cytoplasmic vesicle;Nucleus Multiple endocrine neoplasia 4 Important regulator of cell cycle progression. Inhibits the kinase activity of CDK2 bound to cyclin A, but has little inhibitory activity on CDK2 bound to SPDYA (PubMed:28666995). Involved in G1 arrest. Potent inhibitor of cyclin E- and cyclin A-CDK2 complexes. Forms a complex with cyclin type D-CDK4 complexes and is involved in the assembly, stability, and modulation of CCND1-CDK4 complex activation. Acts either as an inhibitor or an activator of cyclin type D-CDK4 complexes depending on its phosphorylation state and/or stoichometry. Subject to degradation in the lysosome. Interaction with SNX6 promotes lysosomal degradation (By similarity).;Phosphorylated; phosphorylation occurs on serine, threonine and tyrosine residues. Phosphorylation on Ser-10 is the major site of phosphorylation in resting cells, takes place at the G(0)-G(1) phase and leads to protein stability. Phosphorylation on other sites is greatly enhanced by mitogens, growth factors, cMYC and in certain cancer cell lines. The phosphorylated form found in the cytoplasm is inactivate. Phosphorylation on Thr-198 is required for interaction with 14-3-3 proteins. Phosphorylation on Thr-187, by CDK1 and CDK2 leads to protein ubiquitination and proteasomal degradation. Tyrosine phosphorylation promotes this process. Phosphorylation by PKB/AKT1 can be suppressed by LY294002, an inhibitor of the catalytic subunit of PI3K. Phosphorylation on Tyr-88 and Tyr-89 has no effect on binding CDK2, but is required for binding CDK4. Dephosphorylated on tyrosine residues by G-CSF.;Ubiquitinated; in the cytoplasm by the KPC complex (composed of RNF123/KPC1 and UBAC1/KPC2) and, in the nucleus, by SCF(SKP2). The latter requires prior phosphorylation on Thr-187. Ubiquitinated; by a TRIM21-containing SCF(SKP2)-like complex; leads to its degradation. Belongs to the CDI family. ErbB signaling pathway;Cell cycle;Measles;Pathways in cancer;Prostate cancer;Chronic myeloid leukemia;Small cell lung cancer;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;SCF(Skp2)-mediated degradation of p27/p21;Cyclin E associated events during G1/S transition;Cyclin A:Cdk2-associated events at S phase entry;Constitutive Signaling by AKT1 E17K in Cancer;Cyclin D associated events in G1;AKT phosphorylates targets in the cytosol;RHO GTPases activate CIT;p53-Dependent G1 DNA Damage Response;TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest;PTK6 Regulates Cell Cycle;Estrogen-dependent nuclear events downstream of ESR-membrane signaling;FOXO-mediated transcription of cell cycle genes PE1 12 +NX_P46531 Neurogenic locus notch homolog protein 1 2555 272505 4.95 1 Nucleoplasm;Nucleus;Cell membrane Adams-Oliver syndrome 5;Aortic valve disease 1 Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Involved in the maturation of both CD4(+) and CD8(+) cells in the thymus. Important for follicular differentiation and possibly cell fate selection within the follicle. During cerebellar development, functions as a receptor for neuronal DNER and is involved in the differentiation of Bergmann glia. Represses neuronal and myogenic differentiation. May play an essential role in postimplantation development, probably in some aspect of cell specification and/or differentiation. May be involved in mesoderm development, somite formation and neurogenesis. May enhance HIF1A function by sequestering HIF1AN away from HIF1A. Required for the THBS4 function in regulating protective astrogenesis from the subventricular zone (SVZ) niche after injury. Involved in determination of left/right symmetry by modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO). Phosphorylated.;O-glycosylated on the EGF-like domains (PubMed:24226769). O-glucosylated at Ser-435 by KDELC1 and KDELC2 (PubMed:30127001). Contains both O-linked fucose and O-linked glucose in the EGF-like domains 11, 12 and 13, which are interacting with the residues on DLL4 (By similarity). O-linked glycosylation by GALNT11 is involved in determination of left/right symmetry: glycosylation promotes activation of NOTCH1, possibly by promoting cleavage by ADAM17, modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO) (PubMed:24226769). MFNG-, RFNG- and LFNG-mediated modification of O-fucose residues at specific EGF-like domains results in inhibition of its activation by JAG1 and enhancement of its activation by DLL1 via an increased binding to DLL1 (By similarity).;Hydroxylated at Asn-1955 by HIF1AN. Hydroxylated at Asn-2022 by HIF1AN (By similarity). Hydroxylation reduces affinity for HI1AN and may thus indirectly modulate negative regulation of NICD (By similarity).;Synthesized in the endoplasmic reticulum as an inactive form which is proteolytically cleaved by a furin-like convertase in the trans-Golgi network before it reaches the plasma membrane to yield an active, ligand-accessible form (By similarity). Cleavage results in a C-terminal fragment N(TM) and a N-terminal fragment N(EC). Following ligand binding, it is cleaved by ADAM17 to yield a membrane-associated intermediate fragment called notch extracellular truncation (NEXT) (PubMed:24226769). Following endocytosis, this fragment is then cleaved by one of the catalytic subunits of gamma-secretase (PSEN1 or PSEN2), to release a Notch-derived peptide containing the intracellular domain (NICD) from the membrane (PubMed:30598546).;Ubiquitinated. Undergoes 'Lys-29'-linked polyubiquitination by ITCH; promotes the lysosomal degradation of non-activated internalized NOTCH1 (PubMed:18628966, PubMed:23886940). Monoubiquitination at Lys-1759 is required for activation by gamma-secretase cleavage, it promotes interaction with AAK1, which stabilizes it. Deubiquitination by EIF3F is necessary for nuclear import of activated Notch (PubMed:24226769).;NOTCH1 is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);NOTCH1 is phosphorylated by NLK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the NOTCH family. Dorso-ventral axis formation;Notch signaling pathway;Prion diseases;Pre-NOTCH Processing in the Endoplasmic Reticulum;Pre-NOTCH Transcription and Translation;Pre-NOTCH Processing in Golgi;Notch-HLH transcription pathway;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells;Activated NOTCH1 Transmits Signal to the Nucleus;Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant;Constitutive Signaling by NOTCH1 HD Domain Mutants;Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling;Defective LFNG causes SCDO3;RUNX3 regulates NOTCH signaling;NOTCH3 Intracellular Domain Regulates Transcription;NOTCH4 Intracellular Domain Regulates Transcription PE1 9 +NX_P46597 Acetylserotonin O-methyltransferase 345 38453 5.05 0 NA NA Lack enzyme activity.;Catalyzes the transfer of a methyl group onto N-acetylserotonin, producing melatonin (N-acetyl-5-methoxytryptamine). NA Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-independent O-methyltransferase family. Aromatic compound metabolism; melatonin biosynthesis; melatonin from serotonin: step 1/2.;Tryptophan metabolism;Metabolic pathways;Serotonin and melatonin biosynthesis PE1 X +NX_P46663 B1 bradykinin receptor 353 40495 9.5 7 Cell membrane NA This is a receptor for bradykinin. Could be a factor in chronic pain and inflammation. NA Belongs to the G-protein coupled receptor 1 family. Bradykinin receptor subfamily. BDKRB1 sub-subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Complement and coagulation cascades;Regulation of actin cytoskeleton;G alpha (i) signalling events;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 14 +NX_P46695 Radiation-inducible immediate-early gene IEX-1 156 16903 8.61 1 Membrane NA May play a role in the ERK signaling pathway by inhibiting the dephosphorylation of ERK by phosphatase PP2A-PPP2R5C holoenzyme. Acts also as an ERK downstream effector mediating survival. As a member of the NUPR1/RELB/IER3 survival pathway, may provide pancreatic ductal adenocarcinoma with remarkable resistance to cell stress, such as starvation or gemcitabine treatment. Glycosylated.;Phosphorylated at Thr-18, Thr-123 and Ser-126 by MAPK1/ERK2 and probably MAPK3/ERK1. Upon phosphorylation by MAPK1/ERK2 and MAPK3/ERK1, acquires the ability to inhibit cell death induced by various stimuli. Belongs to the IER3 family. PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 6 +NX_P46721 Solute carrier organic anion transporter family member 1A2 670 74145 5.69 12 Cell membrane NA Mediates the Na(+)-independent transport of organic anions such as sulfobromophthalein (BSP) and conjugated (taurocholate) and unconjugated (cholate) bile acids (By similarity). Selectively inhibited by the grapefruit juice component naringin. NA Belongs to the organo anion transporter (TC 2.A.60) family. Bile secretion;Transport of organic anions;Recycling of bile acids and salts PE1 12 +NX_P46734 Dual specificity mitogen-activated protein kinase kinase 3 347 39318 7.05 0 Nucleoplasm;Cytosol NA Dual specificity kinase. Is activated by cytokines and environmental stress in vivo. Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in the MAP kinase p38. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. Yersinia yopJ may acetylate Ser/Thr residues, preventing phosphorylation and activation, thus blocking the MAPK signaling pathway.;Autophosphorylated. Phosphorylation on Ser-218 and Thr-222 by MAP kinase kinase kinases regulates positively the kinase activity (PubMed:8622669). Phosphorylated by TAOK2 (PubMed:11279118).;MAP2K3 is phosphorylated by TAOK1;MAP2K3 is phosphorylated by MAP3K7 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAP2K3 is phosphorylated by MAP3K5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAP2K3 is phosphorylated by TAOK2 Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. MAPK signaling pathway;Toll-like receptor signaling pathway;Fc epsilon RI signaling pathway;GnRH signaling pathway;Amyotrophic lateral sclerosis (ALS);Toxoplasmosis;Influenza A;Oxidative Stress Induced Senescence;activated TAK1 mediates p38 MAPK activation;Uptake and function of anthrax toxins PE1 17 +NX_P46736 Lys-63-specific deubiquitinase BRCC36 316 36072 5.59 0 Nucleoplasm;Spindle pole;Cytoplasm;Nucleus NA Metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains (PubMed:19214193, PubMed:20656690, PubMed:24075985, PubMed:26344097). Does not have activity toward 'Lys-48'-linked polyubiquitin chains. Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). In the BRCA1-A complex, it specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX, antagonizing the RNF8-dependent ubiquitination at double-strand breaks (DSBs) (PubMed:20656690). Catalytic subunit of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin in various substrates (PubMed:20656690, PubMed:24075985, PubMed:26344097, PubMed:26195665). Mediates the specific 'Lys-63'-specific deubiquitination associated with the COP9 signalosome complex (CSN), via the interaction of the BRISC complex with the CSN complex (PubMed:19214193). The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985, PubMed:26344097). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985). NA Belongs to the peptidase M67A family. BRCC36 subfamily. G2/M DNA damage checkpoint;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Metalloprotease DUBs PE1 X +NX_P46776 60S ribosomal protein L27a 148 16561 11 0 Endoplasmic reticulum;Nucleus;Nucleolus;Cytosol NA NA Hydroxylated on His-39 by MINA. Belongs to the universal ribosomal protein uL15 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 11 +NX_P46777 60S ribosomal protein L5 297 34363 9.73 0 Endoplasmic reticulum;Cytosol;Cytoplasm;Nucleolus Diamond-Blackfan anemia 6 Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel. As part of the 5S RNP/5S ribonucleoprotein particle it is an essential component of the LSU, required for its formation and the maturation of rRNAs (PubMed:12962325, PubMed:19061985, PubMed:24120868, PubMed:23636399). It also couples ribosome biogenesis to p53/TP53 activation. As part of the 5S RNP it accumulates in the nucleoplasm and inhibits MDM2, when ribosome biogenesis is perturbed, mediating the stabilization and the activation of TP53 (PubMed:24120868). NA Belongs to the universal ribosomal protein uL18 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 1 +NX_P46778 60S ribosomal protein L21 160 18565 10.49 0 Endoplasmic reticulum;Cytosol;Cytoplasm;Nucleolus Hypotrichosis 12 Component of the large ribosomal subunit. NA Belongs to the eukaryotic ribosomal protein eL21 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 13 +NX_P46779 60S ribosomal protein L28 137 15748 12.02 0 Endoplasmic reticulum;Cytosol NA Component of the large ribosomal subunit. NA Belongs to the eukaryotic ribosomal protein eL28 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 19 +NX_P46781 40S ribosomal protein S9 194 22591 10.66 0 Cytoplasm NA NA NA Belongs to the universal ribosomal protein uS4 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 19 +NX_P46782 40S ribosomal protein S5 204 22876 9.73 0 Endoplasmic reticulum;Cytosol NA NA NA Belongs to the universal ribosomal protein uS7 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 19 +NX_P46783 40S ribosomal protein S10 165 18898 10.15 0 Cytoplasm;Nucleolus Diamond-Blackfan anemia 9 Component of the 40S ribosomal subunit. Monoubiquitinated by ZNF598 when a ribosome has stalled during translation of poly(A) sequences, leading to preclude synthesis of a long poly-lysine tail and initiate the ribosome quality control (RQC) pathway to degrade the potentially detrimental aberrant nascent polypeptide (PubMed:28065601, PubMed:28132843).;Methylated by PRMT5. Methylation is necessary for its interaction with NPS1, its localization in the granular component (GC) region of the nucleolus, for the proper assembly of ribosomes, protein synthesis and optimal cell proliferation. Belongs to the eukaryotic ribosomal protein eS10 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 6 +NX_P46821 Microtubule-associated protein 1B 2468 270634 4.73 0 Cytoplasm;Dendritic spine;Synapse;Cytosol;Cytoskeleton NA Facilitates tyrosination of alpha-tubulin in neuronal microtubules (By similarity). Phosphorylated MAP1B may play a role in the cytoskeletal changes that accompany neurite extension. Possibly MAP1B binds to at least two tubulin subunits in the polymer, and this bridging of subunits might be involved in nucleating microtubule polymerization and in stabilizing microtubules. Acts as a positive cofactor in DAPK1-mediated autophagic vesicle formation and membrane blebbing. S-nitrosylation at Cys-2464 enhances interaction with microtubules, and may act as an effector modification for neuronal nitric oxide synthase control of growth-cone size, growth-cone collapse and axon retraction.;LC1 is generated from MAP1B by proteolytic processing.;MAP1B is phosphorylated by NLK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the MAP1 family. NA PE1 5 +NX_P46926 Glucosamine-6-phosphate isomerase 1 289 32669 6.42 0 Cytoplasm NA Seems to trigger calcium oscillations in mammalian eggs. These oscillations serve as the essential trigger for egg activation and early development of the embryo (By similarity). NA Belongs to the glucosamine/galactosamine-6-phosphate isomerase family. Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Glycolysis PE1 5 +NX_P46934 E3 ubiquitin-protein ligase NEDD4 1319 149114 6.15 0 Cytoplasm;Cytosol;Cell membrane NA E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Specifically ubiquitinates 'Lys-63' in target proteins (PubMed:23644597). Involved in the pathway leading to the degradation of VEGFR-2/KDFR, independently of its ubiquitin-ligase activity. Monoubiquitinates IGF1R at multiple sites, thus leading to receptor internalization and degradation in lysosomes. Ubiquitinates FGFR1, leading to receptor internalization and degradation in lysosomes. Promotes ubiquitination of RAPGEF2. According to PubMed:18562292 the direct link between NEDD4 and PTEN regulation through polyubiquitination described in PubMed:17218260 is questionable. Involved in ubiquitination of ERBB4 intracellular domain E4ICD. Involved in the budding of many viruses. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. Ubiquitinates TNK2 and regulates EGF-induced degradation of EGFR and TNF2. Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046).;(Microbial infection) Involved in the ubiquitination of Ebola virus protein VP40 which plays a role in viral budding. Auto-ubiquitinated. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;ISG15 antiviral mechanism;Downregulation of ERBB4 signaling;Regulation of PTEN stability and activity;Regulation of PTEN localization PE1 15 +NX_P46937 Transcriptional coactivator YAP1 504 54462 5 0 Nucleolus;Cytoplasm;Nucleoplasm;Nucleus Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation Transcriptional regulator which can act both as a coactivator and a corepressor and is the critical downstream regulatory target in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:17974916, PubMed:18280240, PubMed:18579750, PubMed:21364637, PubMed:30447097). The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ (PubMed:18158288). Plays a key role in tissue tension and 3D tissue shape by regulating cortical actomyosin network formation. Acts via ARHGAP18, a Rho GTPase activating protein that suppresses F-actin polymerization (PubMed:25778702). Plays a key role to control cell proliferation in response to cell contact. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration (PubMed:18158288). The presence of TEAD transcription factors are required for it to stimulate gene expression, cell growth, anchorage-independent growth, and epithelial mesenchymal transition (EMT) induction (PubMed:18579750).;Can activate the C-terminal fragment (CTF) of ERBB4 (isoform 3). Ubiquitinated by SCF(beta-TRCP) E3 ubiquitin ligase.;Phosphorylated by LATS1 and LATS2; leading to cytoplasmic translocation and inactivation (PubMed:18158288, PubMed:20048001). Phosphorylated by ABL1; leading to YAP1 stabilization, enhanced interaction with TP73 and recruitment onto proapoptotic genes; in response to DNA damage (PubMed:18280240). Phosphorylation at Ser-400 and Ser-403 by CK1 is triggered by previous phosphorylation at Ser-397 by LATS proteins and leads to YAP1 ubiquitination by SCF(beta-TRCP) E3 ubiquitin ligase and subsequent degradation (PubMed:20048001). Phosphorylated at Thr-119, Ser-138, Thr-154, Ser-367 and Thr-412 by MAPK8/JNK1 and MAPK9/JNK2, which is required for the regulation of apoptosis by YAP1 (PubMed:21364637).;YAP1 is phosphorylated by MAPK3 Belongs to the YAP1 family. Signaling by Hippo;YAP1- and WWTR1 (TAZ)-stimulated gene expression;Nuclear signaling by ERBB4;RUNX3 regulates YAP1-mediated transcription;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX2 regulates osteoblast differentiation PE1 11 +NX_P46939 Utrophin 3433 394466 5.2 0 Nucleoplasm;Cell membrane;Cytoskeleton;Postsynaptic cell membrane NA May play a role in anchoring the cytoskeleton to the plasma membrane. NA NA NA PE1 6 +NX_P46940 Ras GTPase-activating-like protein IQGAP1 1657 189252 6.08 0 Cytoplasm;Cell junction;Nucleus;Cell membrane NA Plays a crucial role in regulating the dynamics and assembly of the actin cytoskeleton. Binds to activated CDC42 but does not stimulate its GTPase activity. It associates with calmodulin. Could serve as an assembly scaffold for the organization of a multimolecular complex that would interface incoming signals to the reorganization of the actin cytoskeleton at the plasma membrane. May promote neurite outgrowth (PubMed:15695813). May play a possible role in cell cycle regulation by contributing to cell cycle progression after DNA replication arrest (PubMed:20883816). Phosphorylation of Ser-1443 by PKC/PRKCE prevents interaction between C1 and C2, allowing binding of nucleotide-free CDC42. Ser-1443 phosphorylation enhances the ability to promote neurite outgrowth. NA Adherens junction;Regulation of actin cytoskeleton;MAP2K and MAPK activation;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Nephrin family interactions;RHO GTPases activate IQGAPs;Neutrophil degranulation;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 15 +NX_P46952 3-hydroxyanthranilate 3,4-dioxygenase 286 32556 5.62 0 Cytosol Vertebral, cardiac, renal, and limb defects syndrome 1 Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate. NA Belongs to the 3-HAO family. Cofactor biosynthesis; NAD(+) biosynthesis; quinolinate from L-kynurenine: step 3/3.;Tryptophan metabolism;Metabolic pathways;Tryptophan catabolism PE1 2 +NX_P46976 Glycogenin-1 350 39384 5.27 0 Cytoplasmic vesicle Polyglucosan body myopathy 2;Glycogen storage disease 15 Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase. Phosphorylated.;Self-glycosylated by the transfer of glucose residues from UDP-glucose to itself, forming an alpha-1,4-glycan of around 10 residues attached to Tyr-195. Belongs to the glycosyltransferase 8 family. Glycogenin subfamily. Glycan biosynthesis; glycogen biosynthesis.;Glycogen synthesis;Myoclonic epilepsy of Lafora;Glycogen breakdown (glycogenolysis);Glycogen storage disease type II (GAA);Glycogen storage disease type XV (GYG1);Glycogen storage disease type 0 (muscle GYS1);Neutrophil degranulation PE1 3 +NX_P46977 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A 705 80530 8.28 13 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleoplasm;Cytoplasmic vesicle;Cytosol Congenital disorder of glycosylation 1W Catalytic subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. This subunit contains the active site and the acceptor peptide and donor lipid-linked oligosaccharide (LLO) binding pockets (By similarity). STT3A is present in the majority of OST complexes and mediates cotranslational N-glycosylation of most sites on target proteins, while STT3B-containing complexes are required for efficient post-translational glycosylation and mediate glycosylation of sites that have been skipped by STT3A (PubMed:19167329). NA Belongs to the STT3 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Protein processing in endoplasmic reticulum;Asparagine N-linked glycosylation PE1 11 +NX_P47211 Galanin receptor type 1 349 38953 9.55 7 Cell membrane NA Receptor for the hormone galanin. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity. Palmitoylated on at least one of the three cysteine residues present in the C-terminal part. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors PE1 18 +NX_P47224 Guanine nucleotide exchange factor MSS4 123 13839 5.37 0 Cytoskeleton NA Guanine-nucleotide-releasing protein that acts on members of the SEC4/YPT1/RAB subfamily. Stimulates GDP release from both YPT1 and RAB3A, but is less active on these proteins than on the SEC4 protein. Might play a general role in vesicular transport. NA Belongs to the DSS4/MSS4 family. NA PE1 1 +NX_P47710 Alpha-S1-casein 185 21671 5.32 0 Secreted NA Important role in the capacity of milk to transport calcium phosphate.;Casoxin D acts as opioid antagonist and has vasorelaxing activity mediated by bradykinin B1 receptors. Not glycosylated. Belongs to the alpha-casein family. Miscellaneous transport and binding events PE1 4 +NX_P47712 Cytosolic phospholipase A2 749 85239 5.22 0 Cytoplasmic vesicle;Cytosol;Cytoplasm Gastrointestinal ulceration, recurrent, with dysfunctional platelets Selectively hydrolyzes arachidonyl phospholipids in the sn-2 position releasing arachidonic acid. Together with its lysophospholipid activity, it is implicated in the initiation of the inflammatory response. Activated by phosphorylation at both Ser-505 and Ser-727. NA Glycerophospholipid metabolism;Ether lipid metabolism;Arachidonic acid metabolism;Linoleic acid metabolism;alpha-Linolenic acid metabolism;Metabolic pathways;MAPK signaling pathway;Vascular smooth muscle contraction;VEGF signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Glutamatergic synapse;Long-term depression;GnRH signaling pathway;Pancreatic secretion;Fat digestion and absorption;Toxoplasmosis;Synthesis of PA;ADP signalling through P2Y purinoceptor 1;Acyl chain remodelling of PG;Acyl chain remodelling of PC;Acyl chain remodelling of PS;Acyl chain remodelling of PE;Acyl chain remodelling of PI;Hydrolysis of LPC;Platelet sensitization by LDL;phospho-PLA2 pathway;Acyl chain remodeling of CL;Arachidonic acid metabolism;COPI-independent Golgi-to-ER retrograde traffic PE1 1 +NX_P47736 Rap1 GTPase-activating protein 1 663 73361 5.55 0 Cytosol;Golgi apparatus membrane NA GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state. NA NA Rap1 signalling;RET signaling PE1 1 +NX_P47755 F-actin-capping protein subunit alpha-2 286 32949 5.57 0 Endoplasmic reticulum;Cytoplasm;Cytosol NA F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. NA Belongs to the F-actin-capping protein alpha subunit family. MHC class II antigen presentation;Factors involved in megakaryocyte development and platelet production;Advanced glycosylation endproduct receptor signaling;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 7 +NX_P47756 F-actin-capping protein subunit beta 277 31350 5.36 0 Cytoplasm;Sarcomere;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Cytoskeleton NA F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. Plays a role in the regulation of cell morphology and cytoskeletal organization. NA Belongs to the F-actin-capping protein beta subunit family. MHC class II antigen presentation;Factors involved in megakaryocyte development and platelet production;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 1 +NX_P47775 G-protein coupled receptor 12 334 36730 6.63 7 Cell membrane NA Promotes neurite outgrowth and blocks myelin inhibition in neurons (By similarity). Receptor with constitutive G(s) signaling activity that stimulates cyclic AMP production. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 13 +NX_P47804 RPE-retinal G protein-coupled receptor 291 31874 8.35 7 Membrane Retinitis pigmentosa 44 Receptor for all-trans- and 11-cis-retinal. Binds preferentially to the former and may catalyze the isomerization of the chromophore by a retinochrome-like mechanism. Covalently binds all-trans- and 11-cis-retinal. Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. G alpha (i) signalling events;Opsins PE1 10 +NX_P47813 Eukaryotic translation initiation factor 1A, X-chromosomal 144 16460 5.07 0 Cytoplasm NA Seems to be required for maximal rate of protein biosynthesis. Enhances ribosome dissociation into subunits and stabilizes the binding of the initiator Met-tRNA(I) to 40 S ribosomal subunits. NA Belongs to the eIF-1A family. RNA transport;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit PE1 X +NX_P47869 Gamma-aminobutyric acid receptor subunit alpha-2 451 51326 9.17 4 Postsynaptic cell membrane;Cytoplasmic vesicle membrane;Dendrite;Cell membrane NA Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (By similarity). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (By similarity). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha2/beta2/gamma2 receptor exhibits synaptogenic activity whereas the alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity). Glycosylated. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA2 sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse;GABA receptor activation PE1 4 +NX_P47870 Gamma-aminobutyric acid receptor subunit beta-2 512 59150 9.39 4 Postsynaptic cell membrane;Cytoplasmic vesicle membrane;Cell membrane Epileptic encephalopathy, infantile or early childhood, 2 Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:8264558, PubMed:19763268, PubMed:27789573, PubMed:29950725). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:23909897, PubMed:25489750). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha1/beta2/gamma2 receptor and the alpha2/beta2/gamma2 receptor exhibit synaptogenic activity (PubMed:23909897, PubMed:25489750). Functions also as histamine receptor and mediates cellular responses to histamine (By similarity). Glycosylated. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB2 sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse;Signaling by ERBB4;GABA receptor activation PE1 5 +NX_P47871 Glucagon receptor 477 54009 9.01 7 Golgi apparatus;Cell membrane NA G-protein coupled receptor for glucagon that plays a central role in the regulation of blood glucose levels and glucose homeostasis. Regulates the rate of hepatic glucose production by promoting glycogen hydrolysis and gluconeogenesis. Plays an important role in mediating the responses to fasting. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Promotes activation of adenylate cyclase. Besides, plays a role in signaling via a phosphatidylinositol-calcium second messenger system. Ligand-binding promotes phosphorylation of serine residues in the C-terminal cytoplasmic domain. Phosphorylation is important for receptor endocytosis after ligand-binding. Belongs to the G-protein coupled receptor 2 family. Neuroactive ligand-receptor interaction;G alpha (q) signalling events;G alpha (s) signalling events;Glucagon signaling in metabolic regulation;Glucagon-type ligand receptors PE1 17 +NX_P47872 Secretin receptor 440 50207 7.88 7 Cell membrane NA Receptor for secretin (SCT), which is involved in different processes such as regulation of the pH of the duodenal content, food intake and water homeostasis (PubMed:7612008, PubMed:25332973). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase (By similarity). Upon binding to secretin, regulates the pH of the duodenum by (1) inhibiting the secretion of gastric acid from the parietal cells of the stomach and (2) stimulating the production of bicarbonate (NaHCO(3)) from the ductal cells of the pancreas (By similarity). In addition to regulating the pH of the duodenal content, plays a central role in diet induced thermogenesis: acts as a non-sympathetic brown fat (BAT) activator mediating prandial thermogenesis, which consequentially induces satiation. Mechanistically, secretin released by the gut after a meal binds to secretin receptor (SCTR) in brown adipocytes, activating brown fat thermogenesis by stimulating lipolysis, which is sensed in the brain and promotes satiation. Also able to stimulate lipolysis in white adipocytes. Also plays an important role in cellular osmoregulation by regulating renal water reabsorption. Also plays a role in the central nervous system: required for synaptic plasticity (By similarity). Phosphorylated on Ser and Thr residues at the cytoplasmic C-terminus by G protein-coupled receptor kinases (GRKs). Belongs to the G-protein coupled receptor 2 family. Neuroactive ligand-receptor interaction;Pancreatic secretion;Bile secretion;G alpha (s) signalling events;Glucagon-type ligand receptors PE1 2 +NX_P47874 Olfactory marker protein 163 18937 5.33 0 Cytoplasm NA May act as a modulator of the olfactory signal-transduction cascade. NA Belongs to the olfactory marker protein family. NA PE1 11 +NX_P47881 Olfactory receptor 3A1 315 34609 9.27 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 17 +NX_P47883 Putative olfactory receptor 3A4 348 37194 6.47 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 17 +NX_P47884 Olfactory receptor 1D4 311 35227 8.29 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE1 17 +NX_P47887 Olfactory receptor 1E2 323 36391 7.9 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 17 +NX_P47888 Olfactory receptor 3A3 321 34963 7.01 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 17 +NX_P47890 Olfactory receptor 1G1 313 34924 6.53 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 17 +NX_P47893 Olfactory receptor 3A2 321 35207 7.56 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 17 +NX_P47895 Aldehyde dehydrogenase family 1 member A3 512 56108 6.99 0 Nucleoplasm;Cytosol;Cytoplasm Microphthalmia, isolated, 8 NAD-dependent aldehyde dehydrogenase that catalyzes the formation of retinoic acid (PubMed:27759097). Has high activity with all-trans retinal, and has much lower in vitro activity with acetaldehyde (PubMed:27759097). Required for the biosynthesis of normal levels of retinoic acid in the embryonic ocular and nasal regions; retinoic acid is required for normal embryonic development of the eye and the nasal region (By similarity). NA Belongs to the aldehyde dehydrogenase family. Cofactor metabolism; retinol metabolism.;Glycolysis / Gluconeogenesis;Histidine metabolism;Tyrosine metabolism;Phenylalanine metabolism;beta-Alanine metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;RA biosynthesis pathway PE1 15 +NX_P47897 Glutamine--tRNA ligase 775 87799 6.71 0 Cytoplasm;Cytosol Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Glutamine--tRNA ligase (PubMed:26869582). Plays a critical role in brain development (PubMed:24656866). NA Belongs to the class-I aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Metabolic pathways;Mitochondrial tRNA aminoacylation;Cytosolic tRNA aminoacylation;Selenoamino acid metabolism PE1 3 +NX_P47898 5-hydroxytryptamine receptor 5A 357 40255 9 7 Cell membrane NA This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins. NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Serotonin receptors PE2 7 +NX_P47900 P2Y purinoceptor 1 373 42072 9.45 7 Cell membrane NA Receptor for extracellular adenine nucleotides such as ADP (PubMed:9442040, PubMed:9038354, PubMed:25822790). In platelets, binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and ultimately platelet aggregation (PubMed:9442040). NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (q) signalling events;P2Y receptors;ADP signalling through P2Y purinoceptor 1 PE1 3 +NX_P47901 Vasopressin V1b receptor 424 46971 9.21 7 Cell membrane NA Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl-inositol-calcium second messenger system. NA Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Vascular smooth muscle contraction;G alpha (q) signalling events;Vasopressin-like receptors;Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI) PE2 1 +NX_P47902 Homeobox protein CDX-1 265 28138 9.58 0 Nucleus NA Plays a role in transcriptional regulation (PubMed:24623306). Involved in activated KRAS-mediated transcriptional activation of PRKD1 in colorectal cancer (CRC) cells (PubMed:24623306). Binds to the PRKD1 promoter in colorectal cancer (CRC) cells (PubMed:24623306). Could play a role in the terminal differentiation of the intestine. Binds preferentially to methylated DNA (PubMed:28473536). NA Belongs to the Caudal homeobox family. NA PE1 5 +NX_P47914 60S ribosomal protein L29 159 17752 11.66 0 Cytoplasm;Nucleolus;Endoplasmic reticulum;Cytosol;Nucleus NA Component of the large ribosomal subunit. NA Belongs to the eukaryotic ribosomal protein eL29 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 3 +NX_P47928 DNA-binding protein inhibitor ID-4 161 16622 8.69 0 Nucleoplasm;Nucleus NA Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation (By similarity). NA NA TGF-beta signaling pathway PE1 6 +NX_P47929 Galectin-7 136 15075 7.02 0 Cytoplasm;Secreted;Nucleus NA Could be involved in cell-cell and/or cell-matrix interactions necessary for normal growth control. Pro-apoptotic protein that functions intracellularly upstream of JNK activation and cytochrome c release. NA NA NA PE1 19 +NX_P47944 Metallothionein-4 62 6509 8.26 0 NA NA Seems to bind zinc and copper. Could play a special role in regulating zinc metabolism during the differentiation of stratified epithelia. NA Belongs to the metallothionein superfamily. Type 1 family. Metallothioneins bind metals PE2 16 +NX_P47972 Neuronal pentraxin-2 431 47042 5.45 0 Golgi apparatus;Centrosome;Secreted;Cytoskeleton NA Likely to play role in the modification of cellular properties that underlie long-term plasticity. Binds to agar matrix in a calcium-dependent manner (By similarity). NA NA NA PE1 7 +NX_P47974 mRNA decay activator protein ZFP36L2 494 51063 8.52 0 Cytoplasm;Nucleus NA Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis (PubMed:25106868, PubMed:14981510). Acts as a 3'-untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signaling events to the mRNA decay machinery (PubMed:25106868). Functions by recruiting the CCR4-NOT deadenylase complex and probably other components of the cytoplasmic RNA decay machinery to the bound ARE-containing mRNAs, and hence promotes ARE-mediated mRNA deadenylation and decay processes (PubMed:25106868). Binds to 3'-UTR ARE of numerous mRNAs (PubMed:20506496, PubMed:25106868, PubMed:14981510). Promotes ARE-containing mRNA decay of the low-density lipoprotein (LDL) receptor (LDLR) mRNA in response to phorbol 12-myristate 13-acetate (PMA) treatment in a p38 MAPK-dependent manner (PubMed:25106868). Positively regulates early adipogenesis by promoting ARE-mediated mRNA decay of immediate early genes (IEGs). Plays a role in mature peripheral neuron integrity by promoting ARE-containing mRNA decay of the transcriptional repressor REST mRNA. Plays a role in ovulation and oocyte meiotic maturation by promoting ARE-mediated mRNA decay of the luteinizing hormone receptor LHCGR mRNA. Acts as a negative regulator of erythroid cell differentiation: promotes glucocorticoid-induced self-renewal of erythroid cells by binding mRNAs that are induced or highly expressed during terminal erythroid differentiation and promotes their degradation, preventing erythroid cell differentiation. In association with ZFP36L1 maintains quiescence on developing B lymphocytes by promoting ARE-mediated decay of several mRNAs encoding cell cycle regulators that help B cells progress through the cell cycle, and hence ensuring accurate variable-diversity-joining (VDJ) recombination process and functional immune cell formation. Together with ZFP36L1 is also necessary for thymocyte development and prevention of T-cell acute lymphoblastic leukemia (T-ALL) transformation by promoting ARE-mediated mRNA decay of the oncogenic transcription factor NOTCH1 mRNA. Phosphorylated by RPS6KA1 at Ser-490 and Ser-492 upon phorbol 12-myristate 13-acetate (PMA) treatment; this phosphorylation results in dissociation of the CCR4-NOT-deadenylase complex and induces p38 MAPK-mediated stabilization of the low-density lipoprotein (LDL) receptor (LDLR) mRNA (PubMed:25106868). Phosphorylation occurs during early preadipocyte differentiation (By similarity). NA NA PE1 2 +NX_P47985 Cytochrome b-c1 complex subunit Rieske, mitochondrial 274 29668 8.55 1 Cytoplasm;Mitochondrion inner membrane NA Cytochrome b-c1 complex subunit Rieske, mitochondrial: Component of the mitochondrial ubiquinol-cytochrome c reductase complex dimer (complex III dimer), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis (PubMed:28673544). Incorporation of UQCRFS1 is the penultimate step in complex III assembly (PubMed:28673544).;Cytochrome b-c1 complex subunit 9: Possible component of the mitochondrial ubiquinol-cytochrome c reductase complex dimer (complex III dimer), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis (PubMed:28673544). UQCRFS1 undergoes proteolytic processing once it is incorporated in the complex III dimer, including this fragment, called subunit 9, which corresponds to the transit peptide (PubMed:28673544). The proteolytic processing is necessary for the correct insertion of UQCRFS1 in the complex III dimer, but the persistence of UQCRFS1-derived fragments may prevent newly imported UQCRFS1 to be processed and assembled into complex III and is detrimental for the complex III structure and function (PubMed:28673544). It is therefore unsure whether the UQCRFS1 fragments, including this fragment, are structural subunits (PubMed:28673544). Proteolytic processing is necessary for the correct insertion of UQCRFS1 in the complex III dimer (PubMed:28673544). Several fragments are generated during UQCRFS1 insertion, most probably due to the endogenous matrix-processing peptidase (MPP) activity (PubMed:28673544). The action of the protease is also necessary for the clearance of the UQCRFS1 fragments (PubMed:28673544). NA Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport PE1 19 +NX_P47989 Xanthine dehydrogenase/oxidase 1333 146424 7.86 0 Cytoplasm;Secreted;Nucleolus;Nucleoplasm;Peroxisome Xanthinuria 1 Key enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low oxidase activity towards aldehydes (in vitro). Contains sulfhydryl groups that are easily oxidized (in vitro); this alters the enzyme from the dehydrogenase form (D) to the oxidase form (O).;Subject to partial proteolysis; this alters the enzyme from the dehydrogenase form (D) to the oxidase form (O). Belongs to the xanthine dehydrogenase family. Purine metabolism;Caffeine metabolism;Drug metabolism - other enzymes;Metabolic pathways;Peroxisome;Purine catabolism;Butyrophilin (BTN) family interactions PE1 2 +NX_P47992 Lymphotactin 114 12517 10.22 0 Secreted NA Chemotactic activity for lymphocytes but not for monocytes or neutrophils. In thymus, mediates medullary accumulation of thymic dendritic cells and contributes to regulatoy T cell development, playing a role in self-tolerance establishment. NA Belongs to the intercrine gamma family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (q) signalling events;Chemokine receptors bind chemokines PE1 1 +NX_P48023 Tumor necrosis factor ligand superfamily member 6 281 31485 9.41 1 Cell membrane;Secreted;Cytoplasmic vesicle lumen;Lysosome lumen;Nucleus Autoimmune lymphoproliferative syndrome 1B FasL intracellular domain: Cytoplasmic form induces gene transcription inhibition.;Tumor necrosis factor ligand superfamily member 6, soluble form: Induces FAS-mediated activation of NF-kappa-B, initiating non-apoptotic signaling pathways (By similarity). Can induce apoptosis but does not appear to be essential for this process (PubMed:27806260).;Cytokine that binds to TNFRSF6/FAS, a receptor that transduces the apoptotic signal into cells (PubMed:26334989, PubMed:9228058). Involved in cytotoxic T-cell-mediated apoptosis, natural killer cell-mediated apoptosis and in T-cell development (PubMed:9228058, PubMed:7528780, PubMed:9427603). Initiates fratricidal/suicidal activation-induced cell death (AICD) in antigen-activated T-cells contributing to the termination of immune responses (By similarity). TNFRSF6/FAS-mediated apoptosis has also a role in the induction of peripheral tolerance (By similarity). Binds to TNFRSF6B/DcR3, a decoy receptor that blocks apoptosis (PubMed:27806260). Monoubiquitinated.;N-glycosylated (PubMed:9228058). Glycosylation enhances apoptotic activity (PubMed:27806260).;Phosphorylated by FGR on tyrosine residues; this is required for ubiquitination and subsequent internalization.;The soluble form derives from the membrane form by proteolytic processing. The membrane-bound form undergoes two successive intramembrane proteolytic cleavages. The first one is processed by ADAM10 producing an N-terminal fragment, which lacks the receptor-binding extracellular domain. This ADAM10-processed FasL (FasL APL) remnant form is still membrane anchored and further processed by SPPL2A that liberates the FasL intracellular domain (FasL ICD). FasL shedding by ADAM10 is a prerequisite for subsequent intramembrane cleavage by SPPL2A in T-cells.;FASLG is phosphorylated by FGR (Phosphotyrosine:PTM-0255) Belongs to the tumor necrosis factor family. MAPK signaling pathway;Cytokine-cytokine receptor interaction;Apoptosis;Natural killer cell mediated cytotoxicity;Neurotrophin signaling pathway;Type I diabetes mellitus;Chagas disease (American trypanosomiasis);African trypanosomiasis;Measles;Influenza A;Herpes simplex infection;Pathways in cancer;Autoimmune thyroid disease;Allograft rejection;Graft-versus-host disease;Caspase activation via Death Receptors in the presence of ligand;Regulation by c-FLIP;RIPK1-mediated regulated necrosis;CASP8 activity is inhibited;Dimerization of procaspase-8;FasL/ CD95L signaling;Interleukin-4 and Interleukin-13 signaling;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models;FOXO-mediated transcription of cell death genes PE1 1 +NX_P48029 Sodium- and chloride-dependent creatine transporter 1 635 70523 6.02 12 Membrane Cerebral creatine deficiency syndrome 1 Required for the uptake of creatine in muscles and brain. NA Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily. Creatine metabolism PE1 X +NX_P48039 Melatonin receptor type 1A 350 39375 9.55 7 Cell membrane NA High affinity receptor for melatonin. Likely to mediate the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Class A/1 (Rhodopsin-like receptors) PE1 4 +NX_P48047 ATP synthase subunit O, mitochondrial 213 23277 9.97 0 Mitochondrion inner membrane;Mitochondrion NA Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements. Acetylation at Lys-162 decreases ATP production. Deacetylated by SIRT3. Belongs to the ATPase delta chain family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Formation of ATP by chemiosmotic coupling;Cristae formation PE1 21 +NX_P48048 ATP-sensitive inward rectifier potassium channel 1 391 44795 9.03 2 Cell membrane Bartter syndrome 2, antenatal In the kidney, probably plays a major role in potassium homeostasis. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be blocked by external barium. Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane. Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ1 subfamily. Aldosterone-regulated sodium reabsorption;Gastric acid secretion;Potassium transport channels PE1 11 +NX_P48050 Inward rectifier potassium channel 4 445 49500 5.82 2 Cytoplasmic vesicle membrane;Cell membrane;Postsynaptic cell membrane NA Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (By similarity). NA Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ4 subfamily. Cholinergic synapse;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Classical Kir channels;Phase 4 - resting membrane potential PE1 22 +NX_P48051 G protein-activated inward rectifier potassium channel 2 423 48451 5.24 2 Membrane Keppen-Lubinsky syndrome This potassium channel may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G-protein-coupled receptors. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. NA Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ6 subfamily. Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits PE1 21 +NX_P48052 Carboxypeptidase A2 419 47030 5.68 0 Golgi apparatus;Secreted NA NA NA Belongs to the peptidase M14 family. Pancreatic secretion;Protein digestion and absorption PE1 7 +NX_P48058 Glutamate receptor 4 902 100871 8.32 3 Dendrite;Cell membrane;Postsynaptic cell membrane Neurodevelopmental disorder with or without seizures and gait abnormalities Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate. Phosphorylated at Ser-862 by PRKCG; phosphorylation increases plasma membrane-associated GRI4 expression.;Palmitoylated. Depalmitoylated upon glutamate stimulation. Cys-611 palmitoylation leads to Golgi retention and decreased cell surface expression. In contrast, Cys-837 palmitoylation does not affect cell surface expression but regulates stimulation-dependent endocytosis (By similarity). Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIA4 subfamily. Neuroactive ligand-receptor interaction;Glutamatergic synapse;Dopaminergic synapse;Unblocking of NMDA receptors, glutamate binding and activation;Trafficking of AMPA receptors;Trafficking of GluR2-containing AMPA receptors;Activation of AMPA receptors;Synaptic adhesion-like molecules PE1 11 +NX_P48059 LIM and senescent cell antigen-like-containing domain protein 1 325 37251 8.43 0 Focal adhesion;Cell membrane NA Adapter protein in a cytoplasmic complex linking beta-integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Involved in the regulation of cell survival, cell proliferation and cell differentiation. NA NA Regulation of cytoskeletal remodeling and cell spreading by IPP complex components;Cell-extracellular matrix interactions PE1 2 +NX_P48060 Glioma pathogenesis-related protein 1 266 30366 8.8 1 Membrane NA NA NA Belongs to the CRISP family. PPARA activates gene expression;Neutrophil degranulation PE1 12 +NX_P48061 Stromal cell-derived factor 1 93 10666 9.92 0 Secreted NA Chemoattractant active on T-lymphocytes and monocytes but not neutrophils. Activates the C-X-C chemokine receptor CXCR4 to induce a rapid and transient rise in the level of intracellular calcium ions and chemotaxis. SDF-1-beta(3-72) and SDF-1-alpha(3-67) show a reduced chemotactic activity. Binding to cell surface proteoglycans seems to inhibit formation of SDF-1-alpha(3-67) and thus to preserve activity on local sites. Also binds to atypical chemokine receptor ACKR3, which activates the beta-arrestin pathway and acts as a scavenger receptor for SDF-1. Binds to the allosteric site (site 2) of integrins and activates integrins ITGAV:ITGB3, ITGA4:ITGB1 and ITGA5:ITGB1 in a CXCR4-independent manner (PubMed:29301984). Acts as a positive regulator of monocyte migration and a negative regulator of monocyte adhesion via the LYN kinase. Stimulates migration of monocytes and T-lymphocytes through its receptors, CXCR4 and ACKR3, and decreases monocyte adherence to surfaces coated with ICAM-1, a ligand for beta-2 integrins. SDF1A/CXCR4 signaling axis inhibits beta-2 integrin LFA-1 mediated adhesion of monocytes to ICAM-1 through LYN kinase. Inhibits CXCR4-mediated infection by T-cell line-adapted HIV-1. Plays a protective role after myocardial infarction. Induces down-regulation and internalization of ACKR3 expressed in various cells. Has several critical functions during embryonic development; required for B-cell lymphopoiesis, myelopoiesis in bone marrow and heart ventricular septum formation. Stimulates the proliferation of bone marrow-derived B-cell progenitors in the presence of IL7 as well as growth of stromal cell-dependent pre-B-cells (By similarity). Is first cleaved at the C-terminus to yield a SDF-1-alpha(1-67) intermediate before being processed at the N-terminus. The C-terminal processing of isoform Alpha is reduced by binding to heparin and, probably, cell surface proteoglycans.;Processed forms SDF-1-beta(3-72) and SDF-1-alpha(3-67) are produced after secretion by proteolytic cleavage of isoforms Beta and Alpha, respectively. The N-terminal processing is probably achieved by DPP4. Belongs to the intercrine alpha (chemokine CxC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Axon guidance;Leukocyte transendothelial migration;Intestinal immune network for IgA production;Rheumatoid arthritis;G alpha (i) signalling events;Nuclear signaling by ERBB4;Chemokine receptors bind chemokines;Signaling by ROBO receptors;Estrogen-dependent gene expression PE1 10 +NX_P48065 Sodium- and chloride-dependent betaine transporter 614 69368 5.96 12 Membrane;Cytoplasmic vesicle NA Transports betaine and GABA. May have a role in regulation of GABAergic transmission in the brain through the reuptake of GABA into presynaptic terminals, as well as in osmotic regulation. NA Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A12 subfamily. Amino acid transport across the plasma membrane;Na+/Cl- dependent neurotransmitter transporters;Creatine metabolism;Reuptake of GABA PE1 12 +NX_P48066 Sodium- and chloride-dependent GABA transporter 3 632 70606 6.52 12 Membrane;Nucleoplasm;Cytoplasmic vesicle NA Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals. NA Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A11 subfamily. GABAergic synapse;Na+/Cl- dependent neurotransmitter transporters;Creatine metabolism;Reuptake of GABA PE1 3 +NX_P48067 Sodium- and chloride-dependent glycine transporter 1 706 78260 8.21 12 Membrane;Nucleoplasm;Golgi apparatus Glycine encephalopathy with normal serum glycine Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May play a role in regulation of glycine levels in NMDA receptor-mediated neurotransmission. NA Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A9 subfamily. Na+/Cl- dependent neurotransmitter transporters PE1 1 +NX_P48145 Neuropeptides B/W receptor type 1 328 36103 9.05 7 Cell membrane NA Interacts specifically with a number of opioid ligands. Receptor for neuropeptides B and W, which may be involved in neuroendocrine system regulation, food intake and the organization of other signals. Has a higher affinity for neuropeptide B. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors PE1 8 +NX_P48146 Neuropeptides B/W receptor type 2 333 36861 9.35 7 Cell membrane NA Interacts specifically with a number of opioid ligands. Receptor for neuropeptides B and W, which may be involved in neuroendocrine system regulation, food intake and the organization of other signals. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors PE1 20 +NX_P48147 Prolyl endopeptidase 710 80700 5.53 0 Cytoplasm;Cytosol NA Cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. The N-terminus is blocked. Belongs to the peptidase S9A family. NA PE1 6 +NX_P48163 NADP-dependent malic enzyme 572 64150 5.79 0 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA NA NA Belongs to the malic enzymes family. Pyruvate metabolism;Metabolic pathways;PPAR signaling pathway;PPARA activates gene expression;Pyruvate metabolism PE1 6 +NX_P48165 Gap junction alpha-8 protein 433 48229 5.21 4 Gap junction;Cell membrane Cataract 1, multiple types Structural component of eye lens gap junctions (PubMed:18006672, PubMed:19756179). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (By similarity). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:18006672, PubMed:19756179). NA Belongs to the connexin family. Alpha-type (group II) subfamily. Gap junction assembly PE1 1 +NX_P48167 Glycine receptor subunit beta 497 56122 9.03 4 Cytoplasm;Postsynaptic cell membrane;Cell membrane;Synapse;Dendrite Hyperekplexia 2 Glycine receptors are ligand-gated chloride channels. GLRB does not form ligand-gated ion channels by itself, but is part of heteromeric ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed:8717357, PubMed:15302677, PubMed:16144831, PubMed:22715885, PubMed:25445488, PubMed:11929858, PubMed:23238346). Heteropentameric channels composed of GLRB and GLRA1 are activated by lower glycine levels than homopentameric GLRA1 (PubMed:8717357). Plays an important role in the down-regulation of neuronal excitability (PubMed:11929858, PubMed:23238346). Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488). NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRB sub-subfamily. Neuroactive ligand-receptor interaction;Neurotransmitter receptors and postsynaptic signal transmission PE1 4 +NX_P48169 Gamma-aminobutyric acid receptor subunit alpha-4 554 61623 9.59 4 Cell membrane;Postsynaptic cell membrane NA GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA4 sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse;GABA receptor activation PE1 4 +NX_P48200 Iron-responsive element-binding protein 2 963 105059 6.62 0 Cytoplasm;Cytosol;Cell junction Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia RNA-binding protein that binds to iron-responsive elements (IRES), which are stem-loop structures found in the 5'-UTR of ferritin, and delta aminolevulinic acid synthase mRNAs, and in the 3'-UTR of transferrin receptor mRNA. Binding to the IRE element in ferritin results in the repression of its mRNA translation. Binding of the protein to the transferrin receptor mRNA inhibits the degradation of this otherwise rapidly degraded mRNA. Ubiquitinated and degraded by the proteasome in presence of high level of iron and oxygen. Ubiquitinated by a SCF complex containing FBXL5. Upon iron and oxygen depletion FBXL5 is degraded, preventing ubiquitination and allowing its RNA-binding activity. Belongs to the aconitase/IPM isomerase family. Iron uptake and transport PE1 15 +NX_P48201 ATP synthase F(0) complex subunit C3, mitochondrial 142 14693 9.57 2 Mitochondrion membrane NA Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element. Trimethylated by ATPSCKMT at Lys-110. Methylation is required for proper incorporation of the C subunit into the ATP synthase complex and mitochondrial respiration. Belongs to the ATPase C chain family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Formation of ATP by chemiosmotic coupling;Cristae formation PE1 2 +NX_P48230 Transmembrane 4 L6 family member 4 202 21396 4.91 4 Membrane;Cytosol;Cell membrane NA Regulates the adhesive and proliferative status of intestinal epithelial cells. Can mediate density-dependent cell proliferation. N-glycosylated. Glycosylation is required for the growth inhibitory effect. Belongs to the L6 tetraspanin family. NA PE1 3 +NX_P48304 Lithostathine-1-beta 166 18665 5.67 0 Secreted NA Might act as an inhibitor of spontaneous calcium carbonate precipitation. May be associated with neuronal sprouting in brain, and with brain and pancreas regeneration. All O-linked glycans consist of Gal-GlcNAc-Gal-GalNAc tetrasaccharide core and get elongated (microheterogeneity). NA NA PE1 2 +NX_P48307 Tissue factor pathway inhibitor 2 235 26934 8.88 0 Secreted NA May play a role in the regulation of plasmin-mediated matrix remodeling. Inhibits trypsin, plasmin, factor VIIa/tissue factor and weakly factor Xa. Has no effect on thrombin. NA NA NA PE1 7 +NX_P48357 Leptin receptor 1165 132494 6.09 1 Basolateral cell membrane;Secreted;Cell membrane Leptin receptor deficiency May transport LEP across the blood-brain barrier. Binds LEP and mediates LEP endocytosis. Does not induce phosphorylation of and activate STAT3.;Antagonizes Isoform A and isoform B-mediated LEP binding and endocytosis.;Receptor for hormone LEP/leptin (Probable) (PubMed:22405007). On ligand binding, mediates LEP central and peripheral effects through the activation of different signaling pathways such as JAK2/STAT3 and MAPK cascade/FOS. In the hypothalamus, LEP acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones (By similarity) (PubMed:9537324). In the periphery, increases basal metabolism, influences reproductive function, regulates pancreatic beta-cell function and insulin secretion, is pro-angiogenic and affects innate and adaptive immunity (PubMed:25060689, PubMed:12504075, PubMed:8805376). Control of energy homeostasis and melanocortin production (stimulation of POMC and full repression of AgRP transcription) is mediated by STAT3 signaling, whereas distinct signals regulate NPY and the control of fertility, growth and glucose homeostasis. Involved in the regulation of counter-regulatory response to hypoglycemia by inhibiting neurons of the parabrachial nucleus. Has a specific effect on T lymphocyte responses, differentially regulating the proliferation of naive and memory T -ells. Leptin increases Th1 and suppresses Th2 cytokine production (By similarity). On ligand binding, phosphorylated on two conserved C-terminal tyrosine residues (isoform B only) by JAK2. Tyr-986 is required for complete binding and activation of PTPN11, ERK/FOS activation,for interaction with SOCS3 and SOCS3 mediated inhibition of leptin signaling. Phosphorylation on Tyr-1141 is required for STAT3 binding/activation. Phosphorylation of Tyr-1079 has a more accessory role. Belongs to the type I cytokine receptor family. Type 2 subfamily. Cytokine-cytokine receptor interaction;Neuroactive ligand-receptor interaction;Jak-STAT signaling pathway;Adipocytokine signaling pathway;Signaling by Leptin PE1 1 +NX_P48378 DNA-binding protein RFX2 723 79987 6.29 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Cytosol;Nucleus NA Transcription factor that acts as a key regulator of spermatogenesis. Acts by regulating expression of genes required for the haploid phase during spermiogenesis, such as genes required for cilium assembly and function (By similarity). Recognizes and binds the X-box, a regulatory motif with DNA sequence 5'-GTNRCC(0-3N)RGYAAC-3' present on promoters (PubMed:10330134). Probably activates transcription of the testis-specific histone gene HIST1H1T (By similarity). NA Belongs to the RFX family. NA PE1 19 +NX_P48380 Transcription factor RFX3 749 83530 5.64 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Transcription factor required for ciliogenesis and islet cell differentiation during endocrine pancreas development. Essential for the differentiation of nodal monocilia and left-right asymmetry specification during embryogenesis. Required for the biogenesis of motile cilia by governing growth and beating efficiency of motile cells. Also required for ciliated ependymal cell differentiation. Regulates the expression of genes involved in ciliary assembly (DYNC2LI1, FOXJ1 and BBS4) and genes involved in ciliary motility (DNAH11, DNAH9 and DNAH5) (By similarity). Together with RFX6, participates in the differentiation of 4 of the 5 islet cell types during endocrine pancreas development, with the exception of pancreatic PP (polypeptide-producing) cells. Regulates transcription by forming a heterodimer with another RFX protein and binding to the X-box in the promoter of target genes (PubMed:20148032). Represses transcription of MAP1A in non-neuronal cells but not in neuronal cells (PubMed:12411430). NA Belongs to the RFX family. NA PE1 9 +NX_P48382 DNA-binding protein RFX5 616 65323 9.35 0 Nucleus Bare lymphocyte syndrome 2 Activates transcription from class II MHC promoters. Recognizes X-boxes. Mediates cooperative binding between RFX and NF-Y. RFX binds the X1 box of MHC-II promoters. Phosphorylated. Belongs to the RFX family. Antigen processing and presentation;Tuberculosis;Primary immunodeficiency PE1 1 +NX_P48426 Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha 406 46225 6.5 0 Golgi apparatus;Cytoplasm;Cell membrane;Cytosol;Nucleus NA Catalyzes the phosphorylation of phosphatidylinositol 5-phosphate (PtdIns5P) on the fourth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May exert its function by regulating the levels of PtdIns5P, which functions in the cytosol by increasing AKT activity and in the nucleus signals through ING2. May regulate the pool of cytosolic PtdIns5P in response to the activation of tyrosine phosphorylation. May negatively regulate insulin-stimulated glucose uptake by lowering the levels of PtdIns5P. May be involved in thrombopoiesis, and the terminal maturation of megakaryocytes and regulation of their size. NA NA Inositol phosphate metabolism;Phosphatidylinositol signaling system;Regulation of actin cytoskeleton;Synthesis of PIPs at the plasma membrane;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;PI5P Regulates TP53 Acetylation;Synthesis of PIPs in the nucleus PE1 10 +NX_P48431 Transcription factor SOX-2 317 34310 9.74 0 Nucleoplasm;Nucleus Microphthalmia, syndromic, 3 Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency. May function as a switch in neuronal development. Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity). Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By similarity). Sumoylation inhibits binding on DNA and negatively regulates the FGF4 transactivation. NA Transcriptional regulation of pluripotent stem cells;POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation;Deactivation of the beta-catenin transactivating complex;POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation;Interleukin-4 and Interleukin-13 signaling;Transcriptional Regulation by MECP2 PE1 3 +NX_P48436 Transcription factor SOX-9 509 56137 6.31 0 Nucleoplasm;Nucleus 46,XX sex reversal 2;Campomelic dysplasia;46,XY sex reversal 10 Transcriptional regulator that plays a role in chondrocytes differentiation and skeletal development (PubMed:24038782). Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with ZNF219 (By similarity). Ubiquitinated. Ubiquitination leads to proteasomal degradation and is negatively regulated by DDRGK1. NA Deactivation of the beta-catenin transactivating complex;Transcriptional regulation by RUNX2 PE1 17 +NX_P48443 Retinoic acid receptor RXR-gamma 463 50871 7.55 0 Cytoplasm;Nucleoplasm;Nucleus NA Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. The high affinity ligand for RXRs is 9-cis retinoic acid (By similarity). Acetylated by EP300. Belongs to the nuclear hormone receptor family. NR2 subfamily. PPAR signaling pathway;Adipocytokine signaling pathway;Pathways in cancer;Thyroid cancer;Small cell lung cancer;Non-small cell lung cancer;Nuclear Receptor transcription pathway;Signaling by Retinoic Acid PE1 1 +NX_P48444 Coatomer subunit delta 511 57210 5.89 0 Golgi apparatus;Cytoplasm;COPI-coated vesicle membrane;Golgi apparatus membrane;Cytoplasmic vesicle Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay Component of the coatomer, a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity). NA Belongs to the adaptor complexes medium subunit family. Delta-COP subfamily. COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 11 +NX_P48448 Aldehyde dehydrogenase family 3 member B2 385 42635 5.65 0 Lipid droplet NA Oxidizes medium and long chain aldehydes into non-toxic fatty acids. Geranylgeranylation is important for localization to lipid droplets and enzyme activity. Belongs to the aldehyde dehydrogenase family. Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.;Glycolysis / Gluconeogenesis;Histidine metabolism;Tyrosine metabolism;Phenylalanine metabolism;beta-Alanine metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Metabolic pathways;Sphingolipid de novo biosynthesis PE1 11 +NX_P48449 Lanosterol synthase 732 83309 6.16 0 Cytosol;Endoplasmic reticulum membrane Hypotrichosis 14;Cataract 44 Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus. Through the production of lanosterol may regulate lens protein aggregation and increase transparency. NA Belongs to the terpene cyclase/mutase family. Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 3/3.;Steroid biosynthesis;Metabolic pathways;Cholesterol biosynthesis;Activation of gene expression by SREBF (SREBP) PE1 21 +NX_P48454 Serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform 512 58129 6.51 0 Cytoplasmic vesicle NA Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals. Dephosphorylates and activates transcription factor NFATC1. Dephosphorylates and inactivates transcription factor ELK1. Dephosphorylates DARPP32. NA Belongs to the PPP phosphatase family. PP-2B subfamily. MAPK signaling pathway;Calcium signaling pathway;Oocyte meiosis;Apoptosis;Wnt signaling pathway;Axon guidance;VEGF signaling pathway;Osteoclast differentiation;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Long-term potentiation;Glutamatergic synapse;Dopaminergic synapse;Alzheimer's disease;Amyotrophic lateral sclerosis (ALS);Tuberculosis;HTLV-I infection;Activation of BAD and translocation to mitochondria;DARPP-32 events PE1 8 +NX_P48506 Glutamate--cysteine ligase catalytic subunit 637 72766 5.74 0 Nucleoplasm;Cytosol;Nucleolus Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency NA NA Belongs to the glutamate--cysteine ligase type 3 family. Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 1/2.;Glutathione metabolism;Metabolic pathways;Glutathione synthesis and recycling;Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) PE1 6 +NX_P48507 Glutamate--cysteine ligase regulatory subunit 274 30727 5.7 0 Nucleoplasm;Cytosol;Cell membrane NA NA NA Belongs to the aldo/keto reductase family. Glutamate--cysteine ligase light chain subfamily. Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 1/2.;Glutathione metabolism;Metabolic pathways;Glutathione synthesis and recycling;Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) PE1 1 +NX_P48509 CD151 antigen 253 28295 7.45 4 Membrane Nephropathy with pretibial epidermolysis bullosa and deafness (Microbial infection) Plays a role in human papillomavirus 16/HPV-16 endocytosis upon binding to cell surface receptor.;Essential for the proper assembly of the glomerular and tubular basement membranes in kidney. NA Belongs to the tetraspanin (TM4SF) family. Assembly of collagen fibrils and other multimeric structures;Type I hemidesmosome assembly PE1 11 +NX_P48539 Calmodulin regulator protein PCP4 62 6791 6.21 0 Nucleoplasm;Nucleolus NA Functions as a modulator of calcium-binding by calmodulin. Thereby, regulates calmodulin activity and the different processes it controls (PubMed:19106096, PubMed:23204517, PubMed:27876793). For instance, may play a role in neuronal differentiation through activation of calmodulin-dependent kinase signaling pathways (PubMed:21491429). NA Belongs to the PCP4 family. NA PE1 21 +NX_P48544 G protein-activated inward rectifier potassium channel 4 419 47668 5.24 2 Membrane Hyperaldosteronism, familial, 3;Long QT syndrome 13 This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium. NA Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ5 subfamily. Dopaminergic synapse;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits PE1 11 +NX_P48546 Gastric inhibitory polypeptide receptor 466 53157 9.09 7 Cell membrane NA This is a receptor for GIP. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. N-glycosylation is required for cell surface expression and lengthens receptor half-life by preventing degradation in the ER. Belongs to the G-protein coupled receptor 2 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Glucagon-type ligand receptors PE1 19 +NX_P48547 Potassium voltage-gated channel subfamily C member 1 511 57942 6.13 6 Presynaptic cell membrane;Cell membrane;Nucleus membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Axon Epilepsy, progressive myoclonic 7 Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient (PubMed:25401298). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well. Contributes to fire sustained trains of very brief action potentials at high frequency in pallidal neurons. N-glycosylated; contains sialylated glycans. Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.1/KCNC1 sub-subfamily. Voltage gated Potassium channels PE1 11 +NX_P48549 G protein-activated inward rectifier potassium channel 1 501 56603 8.46 2 Membrane NA This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This receptor plays a crucial role in regulating the heartbeat. NA Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ3 subfamily. Glutamatergic synapse;Cholinergic synapse;Dopaminergic synapse;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits PE1 2 +NX_P48551 Interferon alpha/beta receptor 2 515 57759 4.37 1 Secreted;Cell membrane Immunodeficiency 45 Is a potent inhibitor of type I IFN receptor activity (PubMed:7759950).;Associates with IFNAR1 to form the type I interferon receptor. Receptor for interferons alpha and beta. Involved in IFN-mediated STAT1, STAT2 and STAT3 activation (PubMed:26424569).;Are directly involved in signal transduction due to their association with the TYR kinase, JAK1 (PubMed:8181059, PubMed:7665574, PubMed:7759950). Glycosylated.;Phosphorylated on tyrosine residues upon interferon binding. Phosphorylation at Tyr-337 or Tyr-512 are sufficient to mediate interferon dependent activation of STAT1, STAT2 and STAT3 leading to antiproliferative effects on many different cell types. Belongs to the type II cytokine receptor family. Cytokine-cytokine receptor interaction;Osteoclast differentiation;Toll-like receptor signaling pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Interferon alpha/beta signaling;Regulation of IFNA signaling PE1 21 +NX_P48552 Nuclear receptor-interacting protein 1 1158 126942 8.36 0 Nucleolus;Nucleoplasm;Cytosol;Nucleus Congenital anomalies of kidney and urinary tract 3 Modulates transcriptional activation by steroid receptors such as NR3C1, NR3C2 and ESR1. Also modulates transcriptional repression by nuclear hormone receptors. Positive regulator of the circadian clock gene expression: stimulates transcription of ARNTL/BMAL1, CLOCK and CRY1 by acting as a coactivator for RORA and RORC. Involved in the regulation of ovarian function (By similarity). Plays a role in renal development (PubMed:28381549). Acetylation regulates its nuclear translocation and corepressive activity (By similarity). Acetylation abolishes interaction with CTBP1. Phosphorylation enhances interaction with YWHAH. NA Circadian Clock;Estrogen-dependent gene expression;SUMOylation of transcription cofactors PE1 21 +NX_P48553 Trafficking protein particle complex subunit 10 1259 142189 5.68 0 cis-Golgi network NA May play a role in vesicular transport from endoplasmic reticulum to Golgi. NA Belongs to the TMEM1 family. COPII-mediated vesicle transport;RAB GEFs exchange GTP for GDP on RABs PE1 21 +NX_P48556 26S proteasome non-ATPase regulatory subunit 8 350 39612 9.73 0 Golgi apparatus;Cytoplasm;Cytosol;Nucleus speckle NA Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. NA Belongs to the proteasome subunit S14 family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 19 +NX_P48594 Serpin B4 390 44854 5.86 0 Cytoplasm NA May act as a protease inhibitor to modulate the host immune response against tumor cells. NA Belongs to the serpin family. Ov-serpin subfamily. Amoebiasis PE1 18 +NX_P48595 Serpin B10 397 45403 5.8 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Protease inhibitor that may play a role in the regulation of protease activities during hematopoiesis and apoptosis induced by TNF. May regulate protease activities in the cytoplasm and in the nucleus. NA Belongs to the serpin family. Ov-serpin subfamily. Amoebiasis;Neutrophil degranulation PE1 18 +NX_P48634 Protein PRRC2A 2157 228863 9.48 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA May play a role in the regulation of pre-mRNA splicing. NA NA NA PE1 6 +NX_P48637 Glutathione synthetase 474 52385 5.67 0 Nucleoplasm Glutathione synthetase deficiency of erythrocytes;Glutathione synthetase deficiency NA NA Belongs to the eukaryotic GSH synthase family. Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 2/2.;Glutathione metabolism;Metabolic pathways;Glutathione synthesis and recycling;Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) PE1 20 +NX_P48643 T-complex protein 1 subunit epsilon 541 59671 5.45 0 Cytoplasm;Centrosome Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable). NA Belongs to the TCP-1 chaperonin family. BBSome-mediated cargo-targeting to cilium;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Folding of actin by CCT/TriC;Association of TriC/CCT with target proteins during biosynthesis;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding PE1 5 +NX_P48645 Neuromedin-U 174 19741 9.14 0 Secreted NA Neuromedin-U-25: Ligand for receptors NMUR1 and NMUR2 (By similarity). Stimulates muscle contractions of specific regions of the gastrointestinal tract. In humans, NmU stimulates contractions of the ileum and urinary bladder.;Neuromedin precursor-related peptide 36: Does not function as a ligand for either NMUR1 or NMUR2. Indirectly induces prolactin release from lactotroph cells in the pituitary gland, probably via the hypothalamic dopaminergic system.;Neuromedin precursor-related peptide 33: Does not function as a ligand for either NMUR1 or NMUR2. Indirectly induces prolactin release although its potency is much lower than that of neuromedin precursor-related peptide 36. NA Belongs to the NmU family. G alpha (i) signalling events;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 4 +NX_P48651 Phosphatidylserine synthase 1 473 55528 8.71 9 Endoplasmic reticulum;Nucleoplasm;Endoplasmic reticulum membrane Lenz-Majewski hyperostotic dwarfism Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. In membranes, PTDSS1 catalyzes mainly the conversion of phosphatidylcholine. Also converts, in vitro and to a lesser extent, phosphatidylethanolamine. NA Belongs to the phosphatidyl serine synthase family. Phospholipid metabolism; phosphatidylserine biosynthesis.;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PS PE1 8 +NX_P48664 Excitatory amino acid transporter 4 564 61565 9.26 8 Cell membrane;Cytoskeleton NA Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7791878). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion. Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (By similarity). Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (Probable). NA Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A6 subfamily. Glutamatergic synapse;Glutamate Neurotransmitter Release Cycle;Transport of inorganic cations/anions and amino acids/oligopeptides PE1 19 +NX_P48668 Keratin, type II cytoskeletal 6C 564 60025 8.09 0 NA Palmoplantar keratoderma, non-epidermolytic, focal or diffuse NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_P48681 Nestin 1621 177439 4.35 0 Cytoskeleton NA Required for brain and eye development. Promotes the disassembly of phosphorylated vimentin intermediate filaments (IF) during mitosis and may play a role in the trafficking and distribution of IF proteins and other cellular factors to daughter cells during progenitor cell division. Required for survival, renewal and mitogen-stimulated proliferation of neural progenitor cells (By similarity). Constitutively phosphorylated. This increases during mitosis when the cytoplasmic intermediate filament network is reorganized (By similarity). Belongs to the intermediate filament family. NA PE1 1 +NX_P48723 Heat shock 70 kDa protein 13 471 51927 5.52 0 Endoplasmic reticulum;Microsome NA Has peptide-independent ATPase activity. NA Belongs to the heat shock protein 70 family. Regulation of HSF1-mediated heat shock response PE1 21 +NX_P48728 Aminomethyltransferase, mitochondrial 403 43946 8.87 0 Nucleoplasm;Mitochondrion Non-ketotic hyperglycinemia The glycine cleavage system catalyzes the degradation of glycine. NA Belongs to the GcvT family. Glycine, serine and threonine metabolism;One carbon pool by folate;Nitrogen metabolism;Metabolic pathways;Glycine degradation PE1 3 +NX_P48729 Casein kinase I isoform alpha 337 38915 9.59 0 Cytoplasm;Nucleus speckle;Cilium basal body;Centrosome;Kinetochore NA Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates CTNNB1 at 'Ser-45'. May phosphorylate PER1 and PER2. May play a role in segregating chromosomes during mitosis (PubMed:11955436, PubMed:1409656, PubMed:18305108). May play a role in keratin cytoskeleton disassembly and thereby, it may regulate epithelial cell migration (PubMed:23902688). Autophosphorylated (Phosphoserine,Phosphothreonine:PTM-0253,PTM-0254) Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. Casein kinase I subfamily. Wnt signaling pathway;Hedgehog signaling pathway;Degradation of beta-catenin by the destruction complex;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Activation of SMO;Disassembly of the destruction complex and recruitment of AXIN to the membrane;Beta-catenin phosphorylation cascade;Misspliced GSK3beta mutants stabilize beta-catenin;S33 mutants of beta-catenin aren't phosphorylated;S37 mutants of beta-catenin aren't phosphorylated;S45 mutants of beta-catenin aren't phosphorylated;T41 mutants of beta-catenin aren't phosphorylated;APC truncation mutants have impaired AXIN binding;AXIN missense mutants destabilize the destruction complex;Truncations of AMER1 destabilize the destruction complex PE1 5 +NX_P48730 Casein kinase I isoform delta 415 47330 9.77 0 Cytoplasm;Golgi apparatus;Cell membrane;Nucleolus;Nucleoplasm;Centrosome;Spindle;Perinuclear region;Nucleus Advanced sleep phase syndrome, familial, 2 Essential serine/threonine-protein kinase that regulates diverse cellular growth and survival processes including Wnt signaling, DNA repair and circadian rhythms. It can phosphorylate a large number of proteins. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. Phosphorylates connexin-43/GJA1, MAP1A, SNAPIN, MAPT/TAU, TOP2A, DCK, HIF1A, EIF6, p53/TP53, DVL2, DVL3, ESR1, AIB1/NCOA3, DNMT1, PKD2, YAP1, PER1 and PER2. Central component of the circadian clock. In balance with PP1, determines the circadian period length through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. Controls PER1 and PER2 nuclear transport and degradation. YAP1 phosphorylation promotes its SCF(beta-TRCP) E3 ubiquitin ligase-mediated ubiquitination and subsequent degradation. DNMT1 phosphorylation reduces its DNA-binding activity. Phosphorylation of ESR1 and AIB1/NCOA3 stimulates their activity and coactivation. Phosphorylation of DVL2 and DVL3 regulates WNT3A signaling pathway that controls neurite outgrowth. EIF6 phosphorylation promotes its nuclear export. Triggers down-regulation of dopamine receptors in the forebrain. Activates DCK in vitro by phosphorylation. TOP2A phosphorylation favors DNA cleavable complex formation. May regulate the formation of the mitotic spindle apparatus in extravillous trophoblast. Modulates connexin-43/GJA1 gap junction assembly by phosphorylation. Probably involved in lymphocyte physiology. Regulates fast synaptic transmission mediated by glutamate. Autophosphorylated on serine and threonine residues; this autophosphorylation represses activity. Reactivated by phosphatase-mediated dephosphorylation. May be dephosphorylated by PP1. Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. Casein kinase I subfamily. Hedgehog signaling pathway;Gap junction;Circadian rhythm - mammal;Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Circadian Clock;Recruitment of NuMA to mitotic centrosomes;COPII-mediated vesicle transport;AURKA Activation by TPX2;Major pathway of rRNA processing in the nucleolus and cytosol PE1 17 +NX_P48735 Isocitrate dehydrogenase [NADP], mitochondrial 452 50909 8.88 0 Mitochondrion Glioma;D-2-hydroxyglutaric aciduria 2 Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex. Acetylation at Lys-413 dramatically reduces catalytic activity. Deacetylated by SIRT3. Belongs to the isocitrate and isopropylmalate dehydrogenases family. Citrate cycle (TCA cycle);Glutathione metabolism;Metabolic pathways;Peroxisome;Citric acid cycle (TCA cycle);Transcriptional activation of mitochondrial biogenesis PE1 15 +NX_P48736 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 1102 126454 7.23 0 Cytoplasm;Cytosol;Cell membrane NA Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Links G-protein coupled receptor activation to PIP3 production. Involved in immune, inflammatory and allergic responses. Modulates leukocyte chemotaxis to inflammatory sites and in response to chemoattractant agents. May control leukocyte polarization and migration by regulating the spatial accumulation of PIP3 and by regulating the organization of F-actin formation and integrin-based adhesion at the leading edge. Controls motility of dendritic cells. Together with PIK3CD is involved in natural killer (NK) cell development and migration towards the sites of inflammation. Participates in T-lymphocyte migration. Regulates T-lymphocyte proliferation and cytokine production. Together with PIK3CD participates in T-lymphocyte development. Required for B-lymphocyte development and signaling. Together with PIK3CD participates in neutrophil respiratory burst. Together with PIK3CD is involved in neutrophil chemotaxis and extravasation. Together with PIK3CB promotes platelet aggregation and thrombosis. Regulates alpha-IIb/beta-3 integrins (ITGA2B/ ITGB3) adhesive function in platelets downstream of P2Y12 through a lipid kinase activity-independent mechanism. May have also a lipid kinase activity-dependent function in platelet aggregation. Involved in endothelial progenitor cell migration. Negative regulator of cardiac contractility. Modulates cardiac contractility by anchoring protein kinase A (PKA) and PDE3B activation, reducing cAMP levels. Regulates cardiac contractility also by promoting beta-adrenergic receptor internalization by binding to GRK2 and by non-muscle tropomyosin phosphorylation. Also has serine/threonine protein kinase activity: both lipid and protein kinase activities are required for beta-adrenergic receptor endocytosis. May also have a scaffolding role in modulating cardiac contractility. Contributes to cardiac hypertrophy under pathological stress. Through simultaneous binding of PDE3B to RAPGEF3 and PIK3R6 is assembled in a signaling complex in which the PI3K gamma complex is activated by RAPGEF3 and which is involved in angiogenesis. NA Belongs to the PI3/PI4-kinase family. Phospholipid metabolism; phosphatidylinositol phosphate biosynthesis.;Inositol phosphate metabolism;ErbB signaling pathway;Chemokine signaling pathway;Phosphatidylinositol signaling system;mTOR signaling pathway;Apoptosis;VEGF signaling pathway;Osteoclast differentiation;Focal adhesion;Toll-like receptor signaling pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Cholinergic synapse;Regulation of actin cytoskeleton;Insulin signaling pathway;Progesterone-mediated oocyte maturation;Type II diabetes mellitus;Aldosterone-regulated sodium reabsorption;Carbohydrate digestion and absorption;Bacterial invasion of epithelial cells;Chagas disease (American trypanosomiasis);Toxoplasmosis;Amoebiasis;Hepatitis C;Measles;Influenza A;HTLV-I infection;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Melanoma;Acute myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;Synthesis of PIPs at the plasma membrane;GPVI-mediated activation cascade;G beta:gamma signalling through PI3Kgamma;Erythropoietin activates Phosphoinositide-3-kinase (PI3K) PE1 7 +NX_P48739 Phosphatidylinositol transfer protein beta isoform 271 31540 6.41 0 Golgi apparatus;Cytoplasm NA Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes. Constitutive phosphorylation of Ser-262 has no effect on phospholipid transfer activity but is required for Golgi targeting. Belongs to the PtdIns transfer protein family. PI transfer class I subfamily. PI and PC transport between ER and Golgi membranes PE1 22 +NX_P48740 Mannan-binding lectin serine protease 1 699 79247 5.29 0 Nucleoplasm;Cytosol;Secreted 3MC syndrome 1 May have an inhibitory effect on the activation of the lectin pathway of complement or may cleave IGFBP5. Also plays a role in development (PubMed:21258343).;Functions in the lectin pathway of complement, which performs a key role in innate immunity by recognizing pathogens through patterns of sugar moieties and neutralizing them. The lectin pathway is triggered upon binding of mannan-binding lectin (MBL) and ficolins to sugar moieties which leads to activation of the associated proteases MASP1 and MASP2. Functions as an endopeptidase and may activate MASP2 or C2 or directly activate C3 the key component of complement reaction. N-glycosylated. Some N-linked glycan are of the complex-type (By similarity).;But not isoform 2 is activated through autoproteolytic processing.;Autoproteolytic processing of the proenzyme produces the active enzyme composed on the heavy and the light chain held together by a disulfide bond.;The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. Belongs to the peptidase S1 family. Complement and coagulation cascades;Staphylococcus aureus infection;Scavenging by Class A Receptors;Initial triggering of complement;Lectin pathway of complement activation;Ficolins bind to repetitive carbohydrate structures on the target cell surface PE1 3 +NX_P48741 Putative heat shock 70 kDa protein 7 367 40244 7.72 0 NA NA NA NA Belongs to the heat shock protein 70 family. Regulation of HSF1-mediated heat shock response PE5 1 +NX_P48742 LIM/homeobox protein Lhx1 406 44808 7.86 0 Nucleus;Golgi apparatus;Nucleoplasm;Nucleus membrane NA Potential transcription factor. May play a role in early mesoderm formation and later in lateral mesoderm differentiation and neurogenesis. NA NA NA PE1 17 +NX_P48745 CCN family member 3 357 39162 8.12 0 Cytoplasm;Gap junction;Secreted;Cytoplasmic vesicle NA Immediate-early protein playing a role in various cellular processes including proliferation, adhesion, migration, differentiation and survival (PubMed:15181016, PubMed:15611078, PubMed:12695522, PubMed:21344378, PubMed:12050162). Acts by binding to integrins or membrane receptors such as NOTCH1 (PubMed:12695522, PubMed:21344378, PubMed:15611078). Essential regulator of hematopoietic stem and progenitor cell function (PubMed:17463287). Inhibits myogenic differentiation through the activation of Notch-signaling pathway (PubMed:12050162). Inhibits vascular smooth muscle cells proliferation by increasing expression of cell-cycle regulators such as CDKN2B or CDKN1A independently of TGFB1 signaling (PubMed:20139355). Ligand of integrins ITGAV:ITGB3 and ITGA5:ITGB1, acts directly upon endothelial cells to stimulate pro-angiogenic activities and induces angiogenesis. In endothelial cells, supports cell adhesion, induces directed cell migration (chemotaxis) and promotes cell survival (PubMed:12695522). Plays also a role in cutaneous wound healing acting as integrin receptor ligand. Supports skin fibroblast adhesion through ITGA5:ITGB1 and ITGA6:ITGB1 and induces fibroblast chemotaxis through ITGAV:ITGB5. Seems to enhance bFGF-induced DNA synthesis in fibroblasts (PubMed:15611078). Involved in bone regeneration as a negative regulator (By similarity). Enhances the articular chondrocytic phenotype, whereas it repressed the one representing endochondral ossification (PubMed:21871891). Impairs pancreatic beta-cell function, inhibits beta-cell proliferation and insulin secretion (By similarity). Plays a role as negative regulator of endothelial pro-inflammatory activation reducing monocyte adhesion, its anti-inflammatory effects occur secondary to the inhibition of NF-kappaB signaling pathway (PubMed:21063504). Contributes to the control and coordination of inflammatory processes in atherosclerosis (By similarity). Attenuates inflammatory pain through regulation of IL1B- and TNF-induced MMP9, MMP2 and CCL2 expression. Inhibits MMP9 expression through ITGB1 engagement (PubMed:21871891). May be palmitoylated on Cys-244, which is important for extracellular secretion. Belongs to the CCN family. NA PE1 8 +NX_P48751 Anion exchange protein 3 1232 135791 6.01 10 Membrane;Nucleoplasm NA Plasma membrane anion exchange protein of wide distribution. Mediates at least a part of the Cl(-)/HCO3(-) exchange in cardiac myocytes. Both BAE3 and CAE3 forms transport Cl(-). NA Belongs to the anion exchanger (TC 2.A.31) family. Bicarbonate transporters PE1 2 +NX_P48764 Sodium/hydrogen exchanger 3 834 92855 7.05 10 Apical cell membrane;Cell membrane Diarrhea 8, secretory sodium, congenital Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient (PubMed:26358773). Plays an important role in signal transduction. Phosphorylated by PKA, which inhibits activity. Phosphorylation at Ser-663 by SGK1 is associated with increased abundance at the cell membrane. Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. Proximal tubule bicarbonate reclamation;Protein digestion and absorption;Bile secretion;Mineral absorption;Sodium/Proton exchangers PE1 5 +NX_P48775 Tryptophan 2,3-dioxygenase 406 47872 6.46 0 Cytosol;Cell membrane Hypertryptophanemia Heme-dependent dioxygenase that catalyzes the oxidative cleavage of the L-tryptophan (L-Trp) pyrrole ring and converts L-tryptophan to N-formyl-L-kynurenine. Catalyzes the oxidative cleavage of the indole moiety. NA Belongs to the tryptophan 2,3-dioxygenase family. Amino-acid degradation; L-tryptophan degradation via kynurenine pathway; L-kynurenine from L-tryptophan: step 1/2.;Tryptophan metabolism;Metabolic pathways;Tryptophan catabolism PE1 4 +NX_P48788 Troponin I, fast skeletal muscle 182 21339 8.87 0 Cell membrane;Cytoskeleton Arthrogryposis, distal, 2B1 Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. NA Belongs to the troponin I family. Striated Muscle Contraction PE1 11 +NX_P48960 CD97 antigen 835 91869 6.5 7 Cytosol;Extracellular space;Cell membrane NA Receptor potentially involved in both adhesion and signaling processes early after leukocyte activation. Plays an essential role in leukocyte migration (By similarity). Proteolytically cleaved into 2 subunits, an extracellular alpha subunit and a seven-transmembrane subunit. Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. Class B/2 (Secretin family receptors);Neutrophil degranulation PE1 19 +NX_P48995 Short transient receptor potential channel 1 793 91212 8.33 6 Membrane;Cytoplasmic vesicle NA Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Seems to be also activated by intracellular calcium store depletion. Activation of PRKCA induces phosphorylation of TRPC1 and subsequent Ca2+ entry into cells. Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC1 sub-subfamily. Calcium signaling pathway;Glutamatergic synapse;Pancreatic secretion;TRP channels;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of second messengers in netrin-1 signaling;Ion homeostasis PE1 3 +NX_P49005 DNA polymerase delta subunit 2 469 51289 5.35 0 Nucleoplasm;Nucleus NA As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Pol-delta4, respectively), plays a role in high fidelity genome replication, including in lagging strand synthesis, and repair (PubMed:12403614, PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24035200). Pol-delta3 and Pol-delta4 are characterized by the absence or the presence of POLD4. They exhibit differences in catalytic activity. Most notably, Pol-delta3 shows higher proofreading activity than Pol-delta4 (PubMed:19074196, PubMed:20334433). Although both Pol-delta3 and Pol-delta4 process Okazaki fragments in vitro, Pol-delta3 may also be better suited to fulfill this task, exhibiting near-absence of strand displacement activity compared to Pol-delta4 and stalling on encounter with the 5'-blocking oligonucleotides. Pol-delta3 idling process may avoid the formation of a gap, while maintaining a nick that can be readily ligated (PubMed:24035200). Along with DNA polymerase kappa, DNA polymerase delta carries out approximately half of nucleotide excision repair (NER) synthesis following UV irradiation (PubMed:20227374). Under conditions of DNA replication stress, required for the repair of broken replication forks through break-induced replication (BIR) (PubMed:24310611). Involved in the translesion synthesis (TLS) of templates carrying O6-methylguanine or abasic sites performed by Pol-delta4, independently of DNA polymerase zeta (REV3L) or eta (POLH). Facilitates abasic site bypass by DNA polymerase delta by promoting extension from the nucleotide inserted opposite the lesion. Also involved in TLS as a component of the POLZ complex. Along with POLD3, dramatically increases the efficiency and processivity of DNA synthesis of the minimal DNA polymerase zeta complex, consisting of only REV3L and REV7 (PubMed:24449906). NA Belongs to the DNA polymerase delta/II small subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;DNA replication;Base excision repair;Nucleotide excision repair;Mismatch repair;Homologous recombination;HTLV-I infection;Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha);Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta);Termination of translesion DNA synthesis;PCNA-Dependent Long Patch Base Excision Repair;Recognition of DNA damage by PCNA-containing replication complex;Polymerase switching on the C-strand of the telomere;Processive synthesis on the C-strand of the telomere;Telomere C-strand (Lagging Strand) Synthesis;Removal of the Flap Intermediate from the C-strand;Polymerase switching;Removal of the Flap Intermediate;Processive synthesis on the lagging strand;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Homologous Recombination (HRR);Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER PE1 7 +NX_P49006 MARCKS-related protein 195 19529 4.68 0 Nucleoplasm;Cytosol;Cytoskeleton;Cell membrane NA Controls cell movement by regulating actin cytoskeleton homeostasis and filopodium and lamellipodium formation (PubMed:22751924). When unphosphorylated, induces cell migration (By similarity). When phosphorylated by MAPK8, induces actin bundles formation and stabilization, thereby reducing actin plasticity, hence restricting cell movement, including neuronal migration (By similarity). May be involved in coupling the protein kinase C and calmodulin signal transduction systems (By similarity). Phosphorylated. Phosphorylation at Ser-120 and Thr-178 is non-redundantly catalyzed by MAPK8 in vivo. Phosphorylation at Thr-148 is preferentially catalyzed by MAPK8 in vivo, but this modification can also be catalyzed by other kinases in the absence of MAPK8. May be phosphorylated by protein kinase C, which disrupts the interaction with calmodulin. Belongs to the MARCKS family. Fc gamma R-mediated phagocytosis;Leishmaniasis PE1 1 +NX_P49019 Hydroxycarboxylic acid receptor 3 387 44478 9.09 7 Cell membrane NA Receptor for 3-OH-octanoid acid mediates a negative feedback regulation of adipocyte lipolysis to counteract prolipolytic influences under conditions of physiological or pathological increases in beta-oxidation rates. Acts as a low affinity receptor for nicotinic acid. This pharmacological effect requires nicotinic acid doses that are much higher than those provided by a normal diet. NA Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;Hydroxycarboxylic acid-binding receptors PE1 12 +NX_P49023 Paxillin 591 64505 5.8 0 Cell cortex;Focal adhesion;Centrosome;Cytosol;Cytoskeleton NA Cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). Phosphorylated by MAPK1/ERK2 (By similarity). Phosphorylated on tyrosine residues during integrin-mediated cell adhesion, embryonic development, fibroblast transformation and following stimulation of cells by mitogens. Phosphorylation at Ser-244 by CDK5 reduces its interaction with PTK2/FAK1 in matrix-cell focal adhesions (MCFA) during oligodendrocytes (OLs) differentiation. Phosphorylation at Tyr-31 and Tyr-118 by PTK6 promote the activation of RAC1 via CRK/CrKII, thereby promoting migration and invasion. Phosphorylation at Ser-250 by SLK is required for PXN redistribution and cell motility (PubMed:23128389).;PXN is phosphorylated by LYN (Phosphotyrosine:PTM-0255);PXN is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255) Belongs to the paxillin family. Chemokine signaling pathway;VEGF signaling pathway;Focal adhesion;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;VEGFA-VEGFR2 Pathway;Smooth Muscle Contraction;Regulation of cytoskeletal remodeling and cell spreading by IPP complex components;Localization of the PINCH-ILK-PARVIN complex to focal adhesions;GAB1 signalosome;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases PE1 12 +NX_P49069 Calcium signal-modulating cyclophilin ligand 296 32953 8.2 2 Membrane;Nucleoplasm;Nucleolus;Cytoplasmic vesicle NA Likely involved in the mobilization of calcium as a result of the TCR/CD3 complex interaction. Binds to cyclophilin B. NA NA Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 5 +NX_P49116 Nuclear receptor subfamily 2 group C member 2 596 65414 5.89 0 Nucleoplasm;Nucleus NA Orphan nuclear receptor that can act as a repressor or activator of transcription. An important repressor of nuclear receptor signaling pathways such as retinoic acid receptor, retinoid X, vitamin D3 receptor, thyroid hormone receptor and estrogen receptor pathways. May regulate gene expression during the late phase of spermatogenesis. Together with NR2C1, forms the core of the DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription including that of GATA1. Binds to hormone response elements (HREs) consisting of two 5'-AGGTCA-3' half site direct repeat consensus sequences. Plays a fundamental role in early embryonic development and embryonic stem cells. Required for normal spermatogenesis and cerebellum development. Appears to be important for neurodevelopmentally regulated behavior (By similarity). Activates transcriptional activity of LHCG. Antagonist of PPARA-mediated transactivation. Phosphorylation on Ser-19 and Ser-68 is an important regulator of NR2C2-mediated transcriptional activity. Phosphorylation on these residues recruits the corepressor, NRIP1, leading to transcripional repression, whereas the non-phosphorylated form preferentially recruits the coactivator, PCAF (By similarity). Belongs to the nuclear hormone receptor family. NR2 subfamily. Nuclear Receptor transcription pathway PE1 3 +NX_P49137 MAP kinase-activated protein kinase 2 400 45568 8.87 0 Nucleoplasm;Cytoplasm;Centrosome;Nucleus NA Stress-activated serine/threonine-protein kinase involved in cytokine production, endocytosis, reorganization of the cytoskeleton, cell migration, cell cycle control, chromatin remodeling, DNA damage response and transcriptional regulation. Following stress, it is phosphorylated and activated by MAP kinase p38-alpha/MAPK14, leading to phosphorylation of substrates. Phosphorylates serine in the peptide sequence, Hyd-X-R-X(2)-S, where Hyd is a large hydrophobic residue. Phosphorylates ALOX5, CDC25B, CDC25C, CEP131, ELAVL1, HNRNPA0, HSP27/HSPB1, KRT18, KRT20, LIMK1, LSP1, PABPC1, PARN, PDE4A, RCSD1, RPS6KA3, TAB3 and TTP/ZFP36. Phosphorylates HSF1; leading to the interaction with HSP90 proteins and inhibiting HSF1 homotrimerization, DNA-binding and transactivation activities (PubMed:16278218). Mediates phosphorylation of HSP27/HSPB1 in response to stress, leading to the dissociation of HSP27/HSPB1 from large small heat-shock protein (sHsps) oligomers and impairment of their chaperone activities and ability to protect against oxidative stress effectively. Involved in inflammatory response by regulating tumor necrosis factor (TNF) and IL6 production post-transcriptionally: acts by phosphorylating AU-rich elements (AREs)-binding proteins ELAVL1, HNRNPA0, PABPC1 and TTP/ZFP36, leading to the regulation of the stability and translation of TNF and IL6 mRNAs. Phosphorylation of TTP/ZFP36, a major post-transcriptional regulator of TNF, promotes its binding to 14-3-3 proteins and reduces its ARE mRNA affinity, leading to inhibition of dependent degradation of ARE-containing transcripts. Phosphorylates CEP131 in response to cellular stress induced by ultraviolet irradiation which promotes binding of CEP131 to 14-3-3 proteins and inhibits formation of novel centriolar satellites (PubMed:26616734). Also involved in late G2/M checkpoint following DNA damage through a process of post-transcriptional mRNA stabilization: following DNA damage, relocalizes from nucleus to cytoplasm and phosphorylates HNRNPA0 and PARN, leading to stabilization of GADD45A mRNA. Involved in toll-like receptor signaling pathway (TLR) in dendritic cells: required for acute TLR-induced macropinocytosis by phosphorylating and activating RPS6KA3. Sumoylation inhibits the protein kinase activity.;Phosphorylated and activated by MAP kinase p38-alpha/MAPK14 at Thr-222, Ser-272 and Thr-334.;MAPKAPK2 is phosphorylated by MAPK11 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. MAPK signaling pathway;VEGF signaling pathway;Neurotrophin signaling pathway;Regulation of HSF1-mediated heat shock response;Oxidative Stress Induced Senescence;activated TAK1 mediates p38 MAPK activation;VEGFA-VEGFR2 Pathway;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA;p38MAPK events;Synthesis of Leukotrienes (LT) and Eoxins (EX);CREB phosphorylation PE1 1 +NX_P49146 Neuropeptide Y receptor type 2 381 42731 6.79 7 Cell membrane NA Receptor for neuropeptide Y and peptide YY. The rank order of affinity of this receptor for pancreatic polypeptides is PYY > NPY > PYY (3-36) > NPY (2-36) > [Ile-31, Gln-34] PP > [Leu-31, Pro-34] NPY > PP, [Pro-34] PYY and NPY free acid. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors PE1 4 +NX_P49184 Deoxyribonuclease-1-like 1 302 33893 5.45 0 Endoplasmic reticulum NA NA NA Belongs to the DNase I family. Neutrophil degranulation PE1 X +NX_P49189 4-trimethylaminobutyraldehyde dehydrogenase 494 53802 5.69 0 Cytosol NA Converts gamma-trimethylaminobutyraldehyde into gamma-butyrobetaine with high efficiency (in vitro). Can catalyze the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction, but with low efficiency. NA Belongs to the aldehyde dehydrogenase family. Amine and polyamine biosynthesis; carnitine biosynthesis.;Glycolysis / Gluconeogenesis;Ascorbate and aldarate metabolism;Fatty acid metabolism;Valine, leucine and isoleucine degradation;Lysine degradation;Arginine and proline metabolism;Histidine metabolism;Tryptophan metabolism;beta-Alanine metabolism;Glycerolipid metabolism;Pyruvate metabolism;Propanoate metabolism;Metabolic pathways;Carnitine synthesis PE1 1 +NX_P49190 Parathyroid hormone 2 receptor 550 62236 6.65 7 Cell membrane NA This is a specific receptor for parathyroid hormone. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. PTH2R may be responsible for PTH effects in a number of physiological systems. It may play a significant role in pancreatic function. PTH2R presence in neurons indicates that it may function as a neurotransmitter receptor (By similarity). NA Belongs to the G-protein coupled receptor 2 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Class B/2 (Secretin family receptors) PE1 2 +NX_P49207 60S ribosomal protein L34 117 13293 11.48 0 Endoplasmic reticulum;Cytoplasm;Cytosol;Nucleolus NA Component of the large ribosomal subunit. NA Belongs to the eukaryotic ribosomal protein eL34 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 4 +NX_P49221 Protein-glutamine gamma-glutamyltransferase 4 684 77145 6.31 0 NA NA Associated with the mammalian reproductive process. Catalyzes the cross-linking of proteins and the conjugation of polyamines to specific proteins in the seminal tract. NA Belongs to the transglutaminase superfamily. Transglutaminase family. NA PE1 3 +NX_P49223 Kunitz-type protease inhibitor 3 89 10252 6.21 0 Secreted NA NA NA NA NA PE1 20 +NX_P49238 CX3C chemokine receptor 1 355 40396 6.74 7 Cell membrane Macular degeneration, age-related, 12 Receptor for the CX3C chemokine fractalkine (CX3CL1); binds to CX3CL1 and mediates both its adhesive and migratory functions (PubMed:9390561, PubMed:23125415). Acts as coreceptor with CD4 for HIV-1 virus envelope protein (in vitro) (PubMed:9726990).;Seem to be more potent HIV-1 coreceptors than isoform 1 (PubMed:14607932). This protein is not N-glycosylated which is unusual for G-protein-coupled receptors. Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 3 +NX_P49247 Ribose-5-phosphate isomerase 311 33269 8.78 0 Cytoplasmic vesicle;Nucleoplasm;Cell membrane Ribose 5-phosphate isomerase deficiency NA NA Belongs to the ribose 5-phosphate isomerase family. Carbohydrate degradation; pentose phosphate pathway; D-ribose 5-phosphate from D-ribulose 5-phosphate (non-oxidative stage): step 1/1.;Pentose phosphate pathway;Metabolic pathways;Pentose phosphate pathway;RPIA deficiency: failed conversion of R5P to RU5P;RPIA deficiency: failed conversion of RU5P to R5P PE1 2 +NX_P49257 Protein ERGIC-53 510 57549 6.3 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;Cytosol;Endoplasmic reticulum membrane;Golgi apparatus membrane Factor V and factor VIII combined deficiency 1 Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. The N-terminal may be partly blocked. NA Protein processing in endoplasmic reticulum;COPII-mediated vesicle transport;Transport to the Golgi and subsequent modification;Cargo concentration in the ER PE1 18 +NX_P49279 Natural resistance-associated macrophage protein 1 550 59872 7.58 12 Membrane NA Divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Macrophage-specific membrane transport function. Controls natural resistance to infection with intracellular parasites. Pathogen resistance involves sequestration of Fe(2+) and Mn(2+), cofactors of both prokaryotic and eukaryotic catalases and superoxide dismutases, not only to protect the macrophage against its own generation of reactive oxygen species, but to deny the cations to the pathogen for synthesis of its protective enzymes. NA Belongs to the NRAMP family. Lysosome;Mineral absorption;ROS and RNS production in phagocytes;Metal ion SLC transporters;Neutrophil degranulation;Ion influx/efflux at host-pathogen interface PE1 2 +NX_P49281 Natural resistance-associated macrophage protein 2 568 62266 5.72 12 Mitochondrion outer membrane;Mitochondrion;Cell membrane;Endosome membrane;Early endosome Anemia, hypochromic microcytic, with iron overload 1 Important in metal transport, in particular iron. Can also transport manganese, cobalt, cadmium, nickel, vanadium and lead. Involved in apical iron uptake into duodenal enterocytes. Involved in iron transport from acidified endosomes into the cytoplasm of erythroid precursor cells. May play an important role in hepatic iron accumulation and tissue iron distribution. May serve to import iron into the mitochondria. N-glycosylated.;Ubiquitinated by WWP2. Belongs to the NRAMP family. Lysosome;Mineral absorption;Iron uptake and transport;Metal ion SLC transporters;Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1) PE1 12 +NX_P49286 Melatonin receptor type 1B 362 40188 9.12 7 Cell membrane NA High affinity receptor for melatonin. Likely to mediate the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Class A/1 (Rhodopsin-like receptors) PE1 11 +NX_P49321 Nuclear autoantigenic sperm protein 788 85238 4.26 0 Cytoplasm;Nucleoplasm;Nucleus NA Required for DNA replication, normal cell cycle progression and cell proliferation. Forms a cytoplasmic complex with HSP90 and H1 linker histones and stimulates HSP90 ATPase activity. NASP and H1 histone are subsequently released from the complex and translocate to the nucleus where the histone is released for binding to DNA. NA Belongs to the NASP family. NA PE1 1 +NX_P49326 Dimethylaniline monooxygenase [N-oxide-forming] 5 533 60221 8.41 1 Microsome membrane;Endoplasmic reticulum;Cytosol;Endoplasmic reticulum membrane NA In contrast with other forms of FMO it does not seem to be a drug-metabolizing enzyme. NA Belongs to the FMO family. Drug metabolism - cytochrome P450 PE1 1 +NX_P49327 Fatty acid synthase 2511 273427 6.01 0 Cytoplasm;Cytosol;Melanosome;Cell membrane NA Fatty acid synthetase catalyzes the formation of long-chain fatty acids from acetyl-CoA, malonyl-CoA and NADPH. This multifunctional protein has 7 catalytic activities as an acyl carrier protein. FASN is phosphorylated by MAPK3 NA Fatty acid biosynthesis;Metabolic pathways;Insulin signaling pathway;ChREBP activates metabolic gene expression;Activation of gene expression by SREBF (SREBP);Fatty acyl-CoA biosynthesis;Vitamin B5 (pantothenate) metabolism PE1 17 +NX_P49335 POU domain, class 3, transcription factor 4 361 39427 7.07 0 Nucleoplasm;Nucleus Deafness, X-linked, 2 Probable transcription factor which exert its primary action widely during early neural development and in a very limited set of neurons in the mature brain. NA Belongs to the POU transcription factor family. Class-3 subfamily. NA PE1 X +NX_P49336 Cyclin-dependent kinase 8 464 53284 8.72 0 Nucleoplasm;Nucleus NA Component of the Mediator complex, a coactivator involved in regulated gene transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Phosphorylates the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAp II), which may inhibit the formation of a transcription initiation complex. Phosphorylates CCNH leading to down-regulation of the TFIIH complex and transcriptional repression. Recruited through interaction with MAML1 to hyperphosphorylate the intracellular domain of NOTCH, leading to its degradation. NA Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. Generic Transcription Pathway;PPARA activates gene expression;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Transcriptional regulation of white adipocyte differentiation PE1 13 +NX_P49354 Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha 379 44409 4.96 0 Cytosol NA Essential subunit of both the farnesyltransferase and the geranylgeranyltransferase complex. Contributes to the transfer of a farnesyl or geranylgeranyl moiety from farnesyl or geranylgeranyl diphosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X. May positively regulate neuromuscular junction development downstream of MUSK via its function in RAC1 prenylation and activation. Phosphorylated. Phosphorylation is mediated by MUSK upon AGRIN stimulation and results in the activation of FNTA (By similarity).;FNTA is phosphorylated by TGFBR1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein prenyltransferase subunit alpha family. Inactivation, recovery and regulation of the phototransduction cascade;Apoptotic cleavage of cellular proteins PE1 8 +NX_P49356 Protein farnesyltransferase subunit beta 437 48774 5.51 0 Centrosome NA Essential subunit of the farnesyltransferase complex. Catalyzes the transfer of a farnesyl moiety from farnesyl diphosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X. NA Belongs to the protein prenyltransferase subunit beta family. Inactivation, recovery and regulation of the phototransduction cascade PE1 14 +NX_P49366 Deoxyhypusine synthase 369 40971 5.22 0 Nucleoplasm;Cytosol;Cell membrane NA Catalyzes the NAD-dependent oxidative cleavage of spermidine and the subsequent transfer of the butylamine moiety of spermidine to the epsilon-amino group of a critical lysine residue of the eIF-5A precursor protein to form the intermediate deoxyhypusine residue. This is the first step of the post-translational modification of that lysine into an unusual amino acid residue named hypusine. Hypusination is unique to mature eIF-5A factor and is essential for its function. NA Belongs to the deoxyhypusine synthase family. Protein modification; eIF5A hypusination.;Hypusine synthesis from eIF5A-lysine PE1 19 +NX_P49368 T-complex protein 1 subunit gamma 545 60534 6.1 0 Cytoplasm;Cytosol;Cell membrane NA Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable). NA Belongs to the TCP-1 chaperonin family. BBSome-mediated cargo-targeting to cilium;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Folding of actin by CCT/TriC;Association of TriC/CCT with target proteins during biosynthesis;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding PE1 1 +NX_P49406 39S ribosomal protein L19, mitochondrial 292 33535 9.55 0 Mitochondrion NA NA NA Belongs to the bacterial ribosomal protein bL19 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 2 +NX_P49407 Beta-arrestin-1 418 47066 5.84 0 Cytoplasm;Cell membrane;Clathrin-coated pit;Nucleoplasm;Pseudopodium;Cytoplasmic vesicle;Nucleus NA Functions in regulating agonist-mediated G-protein coupled receptor (GPCR) signaling by mediating both receptor desensitization and resensitization processes. During homologous desensitization, beta-arrestins bind to the GPRK-phosphorylated receptor and sterically preclude its coupling to the cognate G-protein; the binding appears to require additional receptor determinants exposed only in the active receptor conformation. The beta-arrestins target many receptors for internalization by acting as endocytic adapters (CLASPs, clathrin-associated sorting proteins) and recruiting the GPRCs to the adapter protein 2 complex 2 (AP-2) in clathrin-coated pits (CCPs). However, the extent of beta-arrestin involvement appears to vary significantly depending on the receptor, agonist and cell type. Internalized arrestin-receptor complexes traffic to intracellular endosomes, where they remain uncoupled from G-proteins. Two different modes of arrestin-mediated internalization occur. Class A receptors, like ADRB2, OPRM1, ENDRA, D1AR and ADRA1B dissociate from beta-arrestin at or near the plasma membrane and undergo rapid recycling. Class B receptors, like AVPR2, AGTR1, NTSR1, TRHR and TACR1 internalize as a complex with arrestin and traffic with it to endosomal vesicles, presumably as desensitized receptors, for extended periods of time. Receptor resensitization then requires that receptor-bound arrestin is removed so that the receptor can be dephosphorylated and returned to the plasma membrane. Involved in internalization of P2RY4 and UTP-stimulated internalization of P2RY2. Involved in phosphorylation-dependent internalization of OPRD1 ands subsequent recycling. Involved in the degradation of cAMP by recruiting cAMP phosphodiesterases to ligand-activated receptors. Beta-arrestins function as multivalent adapter proteins that can switch the GPCR from a G-protein signaling mode that transmits short-lived signals from the plasma membrane via small molecule second messengers and ion channels to a beta-arrestin signaling mode that transmits a distinct set of signals that are initiated as the receptor internalizes and transits the intracellular compartment. Acts as signaling scaffold for MAPK pathways such as MAPK1/3 (ERK1/2). ERK1/2 activated by the beta-arrestin scaffold is largely excluded from the nucleus and confined to cytoplasmic locations such as endocytic vesicles, also called beta-arrestin signalosomes. Recruits c-Src/SRC to ADRB2 resulting in ERK activation. GPCRs for which the beta-arrestin-mediated signaling relies on both ARRB1 and ARRB2 (codependent regulation) include ADRB2, F2RL1 and PTH1R. For some GPCRs the beta-arrestin-mediated signaling relies on either ARRB1 or ARRB2 and is inhibited by the other respective beta-arrestin form (reciprocal regulation). Inhibits ERK1/2 signaling in AGTR1- and AVPR2-mediated activation (reciprocal regulation). Is required for SP-stimulated endocytosis of NK1R and recruits c-Src/SRC to internalized NK1R resulting in ERK1/2 activation, which is required for the antiapoptotic effects of SP. Is involved in proteinase-activated F2RL1-mediated ERK activity. Acts as signaling scaffold for the AKT1 pathway. Is involved in alpha-thrombin-stimulated AKT1 signaling. Is involved in IGF1-stimulated AKT1 signaling leading to increased protection from apoptosis. Involved in activation of the p38 MAPK signaling pathway and in actin bundle formation. Involved in F2RL1-mediated cytoskeletal rearrangement and chemotaxis. Involved in AGTR1-mediated stress fiber formation by acting together with GNAQ to activate RHOA. Appears to function as signaling scaffold involved in regulation of MIP-1-beta-stimulated CCR5-dependent chemotaxis. Involved in attenuation of NF-kappa-B-dependent transcription in response to GPCR or cytokine stimulation by interacting with and stabilizing CHUK. May serve as nuclear messenger for GPCRs. Involved in OPRD1-stimulated transcriptional regulation by translocating to CDKN1B and FOS promoter regions and recruiting EP300 resulting in acetylation of histone H4. Involved in regulation of LEF1 transcriptional activity via interaction with DVL1 and/or DVL2 Also involved in regulation of receptors other than GPCRs. Involved in Toll-like receptor and IL-1 receptor signaling through the interaction with TRAF6 which prevents TRAF6 autoubiquitination and oligomerization required for activation of NF-kappa-B and JUN. Binds phosphoinositides. Binds inositolhexakisphosphate (InsP6) (By similarity). Involved in IL8-mediated granule release in neutrophils. Required for atypical chemokine receptor ACKR2-induced RAC1-LIMK1-PAK1-dependent phosphorylation of cofilin (CFL1) and for the up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. Involved in the internalization of the atypical chemokine receptor ACKR3. Negatively regulates the NOTCH signaling pathway by mediating the ubiquitination and degradation of NOTCH1 by ITCH. Participates to the recruitment of the ubiquitin-protein ligase to the receptor (PubMed:23886940). The ubiquitination status appears to regulate the formation and trafficking of beta-arrestin-GPCR complexes and signaling. Ubiquitination appears to occur GPCR-specific. Ubiquitinated by MDM2; the ubiquitination is required for rapid internalization of ADRB2. Deubiquitinated by USP33; the deubiquitination leads to a dissociation of the beta-arrestin-GPCR complex. Stimulation of a class A GPCR, such as ADRB2, induces transient ubiquitination and subsequently promotes association with USP33.;Constitutively phosphorylated at Ser-412 in the cytoplasm. At the plasma membrane, is rapidly dephosphorylated, a process that is required for clathrin binding and ADRB2 endocytosis but not for ADRB2 binding and desensitization. Once internalized, is rephosphorylated. Belongs to the arrestin family. MAPK signaling pathway;Chemokine signaling pathway;Endocytosis;Phototransduction;G alpha (s) signalling events;Activation of SMO;Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis;MAP2K and MAPK activation;Thrombin signalling through proteinase activated receptors (PARs);Activated NOTCH1 Transmits Signal to the Nucleus;Ub-specific processing proteases;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 11 +NX_P49411 Elongation factor Tu, mitochondrial 452 49542 7.26 0 Mitochondrion Combined oxidative phosphorylation deficiency 4 Promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. Plays also a role in the regulation of autophagy and innate immunity. Recruits ATG5-ATG12 and NLRX1 at mitochondria and serves as a checkpoint of the RIG-I/DDX58-MAVS pathway. In turn, inhibits RLR-mediated type I interferon while promoting autophagy. NA Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily. Mitochondrial translation elongation PE1 16 +NX_P49418 Amphiphysin 695 76257 4.58 0 Cytosol;Synaptic vesicle membrane;Cell membrane;Cytoskeleton NA May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May control the properties of the membrane associated cytoskeleton. NA NA Fc gamma R-mediated phagocytosis;Clathrin-mediated endocytosis PE1 7 +NX_P49419 Alpha-aminoadipic semialdehyde dehydrogenase 539 58487 8.21 0 Cytosol;Mitochondrion;Nucleus Pyridoxine-dependent epilepsy Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism. NA Belongs to the aldehyde dehydrogenase family. Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine from betaine aldehyde: step 1/1.;Glycolysis / Gluconeogenesis;Ascorbate and aldarate metabolism;Fatty acid metabolism;Glycine, serine and threonine metabolism;Valine, leucine and isoleucine degradation;Lysine biosynthesis;Lysine degradation;Arginine and proline metabolism;Histidine metabolism;Tryptophan metabolism;beta-Alanine metabolism;Glycerolipid metabolism;Pyruvate metabolism;Propanoate metabolism;Metabolic pathways;Lysine catabolism;Choline catabolism PE1 5 +NX_P49427 Ubiquitin-conjugating enzyme E2 R1 236 26737 4.41 0 Cytoplasm;Cytosol;Nucleus speckle;Nucleus NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-linked polyubiquitination (PubMed:22496338). Cooperates with the E2 UBCH5C and the SCF(FBXW11) E3 ligase complex for the polyubiquitination of NFKBIA leading to its subsequent proteasomal degradation. Performs ubiquitin chain elongation building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. UBE2D3 acts as an initiator E2, priming the phosphorylated NFKBIA target at positions 'Lys-21' and/or 'Lys-22' with a monoubiquitin. Cooperates with the SCF(SKP2) E3 ligase complex to regulate cell proliferation through ubiquitination and degradation of MYBL2 and KIP1. Involved in ubiquitin conjugation and degradation of CREM isoform ICERIIgamma and ATF15 resulting in abrogation of ICERIIgamma- and ATF5-mediated repression of cAMP-induced transcription during both meiotic and mitotic cell cycles. Involved in the regulation of the cell cycle G2/M phase through its targeting of the WEE1 kinase for ubiquitination and degradation. Also involved in the degradation of beta-catenin. Is target of human herpes virus 1 protein ICP0, leading to ICP0-dependent dynamic interaction with proteasomes (PubMed:10329681, PubMed:10373550, PubMed:10871850, PubMed:11675391, PubMed:12037680, PubMed:15652359, PubMed:17461777, PubMed:17698585, PubMed:19112177, PubMed:19126550, PubMed:19945379, PubMed:20061386, PubMed:20347421). Phosphorylated by CK2. Phosphorylation of the C-terminal tail by CK2 controles the nuclear localization.;Autoubiquitinated (PubMed:22496338, PubMed:11805320, PubMed:12060736). Autoubiquitination is promoted by the human herpes virus 1 protein ICP0 and leads to degradation by the Ubiquitin-proteasomal pathway (PubMed:11805320, PubMed:12060736). Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Herpes simplex infection;FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Synthesis of active ubiquitin: roles of E1 and E2 enzymes PE1 19 +NX_P49441 Inositol polyphosphate 1-phosphatase 399 43998 5.15 0 Cytosol;Centriolar satellite NA NA NA Belongs to the inositol monophosphatase superfamily. Signal transduction; phosphatidylinositol signaling pathway.;Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of IP2, IP, and Ins in the cytosol PE1 2 +NX_P49447 Cytochrome b561 251 27559 8.73 6 Secretory vesicle membrane Orthostatic hypotension 2 Secretory vesicle-specific electron transport protein. NA NA NA PE1 17 +NX_P49448 Glutamate dehydrogenase 2, mitochondrial 558 61434 8.63 0 Mitochondrion matrix NA Important for recycling the chief excitatory neurotransmitter, glutamate, during neurotransmission. Stoichiometry shows that ADP-ribosylation occurs in one subunit per catalytically active homohexamer. Belongs to the Glu/Leu/Phe/Val dehydrogenases family. Alanine, aspartate and glutamate metabolism;Arginine and proline metabolism;D-Glutamine and D-glutamate metabolism;Nitrogen metabolism;Metabolic pathways;Proximal tubule bicarbonate reclamation;Transcriptional activation of mitochondrial biogenesis;Glutamate and glutamine metabolism PE1 X +NX_P49450 Histone H3-like centromeric protein A 140 15991 11.71 0 Kinetochore;Nucleoplasm;Centromere;Nucleus NA Histone H3-like nucleosomal protein that is specifically found in centromeric nucleosomes (PubMed:7962047, PubMed:9024683, PubMed:11756469, PubMed:14667408, PubMed:15702419, PubMed:15475964, PubMed:15282608, PubMed:17651496, PubMed:19114591, PubMed:27499292, PubMed:20739937). Replaces conventional H3 in the nucleosome core of centromeric chromatin at the inner plate of the kinetochore (PubMed:18072184). The presence of CENPA subtly modifies the nucleosome structure and the way DNA is wrapped around the nucleosome and gives rise to protruding DNA ends that are less well-ordered and rigid compared to nucleosomes containing histone H3 (PubMed:27499292, PubMed:26878239). May serve as an epigenetic mark that propagates centromere identity through replication and cell division (PubMed:15475964, PubMed:15282608, PubMed:26878239, PubMed:20739937, PubMed:21478274). Required for recruitment and assembly of kinetochore proteins, and as a consequence required for progress through mitosis, chromosome segregation and cytokinesis (PubMed:11756469, PubMed:14667408, PubMed:18072184, PubMed:23818633, PubMed:25556658, PubMed:27499292). Ubiquitinated (Probable). Interaction with herpes virus HSV-1 ICP0 protein, leads to its degradation by the proteasome pathway.;Phosphorylated by CDK1 at Ser-68 during early mitosis; this abolishes association with chromatin and centromeres, prevents interaction with HJURP and thereby prevents premature assembly of CENPA into centromeres (PubMed:25556658). Dephosphorylated at Ser-68 by PPP1CA during late mitosis (PubMed:25556658). Phosphorylation of Ser-7 by AURKA and AURKB during prophase is required for localization of AURKA and AURKB at inner centromere and is essential for normal cytokinesis (PubMed:11756469, PubMed:14667408, PubMed:18239465). Initial phosphorylation during prophase is mediated by AURKA and is maintained by AURKB.;Poly-ADP-ribosylated by PARP1.;Trimethylated by NTMT1 at the N-terminal glycine after cleavage of Met-1. Methylation is low before incorporation into nucleosomes and increases with cell cycle progression, with the highest levels in mitotic nucleosomes. Belongs to the histone H3 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Deposition of new CENPA-containing nucleosomes at the centromere;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 2 +NX_P49454 Centromere protein F 3114 357527 5.06 0 Nucleus matrix;Nucleoplasm;Spindle;Perinuclear region;Kinetochore Stromme syndrome Required for kinetochore function and chromosome segregation in mitosis. Required for kinetochore localization of dynein, LIS1, NDE1 and NDEL1. Regulates recycling of the plasma membrane by acting as a link between recycling vesicles and the microtubule network though its association with STX4 and SNAP25. Acts as a potential inhibitor of pocket protein-mediated cellular processes during development by regulating the activity of RB proteins during cell division and proliferation. May play a regulatory or permissive role in the normal embryonic cardiomyocyte cell cycle and in promoting continued mitosis in transformed, abnormally dividing neonatal cardiomyocytes. Interaction with RB directs embryonic stem cells toward a cardiac lineage. Involved in the regulation of DNA synthesis and hence cell cycle progression, via its C-terminus. Has a potential role regulating skeletal myogenesis and in cell differentiation in embryogenesis. Involved in dendritic cell regulation of T-cell immunity against chlamydia. Hyperphosphorylated during mitosis. Belongs to the centromere protein F family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Polo-like kinase mediated events;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 1 +NX_P49458 Signal recognition particle 9 kDa protein 86 10112 7.76 0 Cytoplasm NA Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. SRP9 together with SRP14 and the Alu portion of the SRP RNA, constitutes the elongation arrest domain of SRP. The complex of SRP9 and SRP14 is required for SRP RNA binding. NA Belongs to the SRP9 family. Protein export;SRP-dependent cotranslational protein targeting to membrane PE1 1 +NX_P49459 Ubiquitin-conjugating enzyme E2 A 152 17315 5.06 0 NA Mental retardation, X-linked, syndromic, Nascimento-type Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys-120' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes 'Lys-11', as well as 'Lys-48'-linked polyubiquitination. Required for postreplication repair of UV-damaged DNA. Phosphorylation at Ser-120 by CDK9 increases activity towards histone H2B.;UBE2A is phosphorylated by CDK1 Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Synthesis of active ubiquitin: roles of E1 and E2 enzymes;E3 ubiquitin ligases ubiquitinate target proteins PE1 X +NX_P49585 Choline-phosphate cytidylyltransferase A 367 41731 6.82 0 Membrane;Nucleoplasm;Cytosol Spondylometaphyseal dysplasia with cone-rod dystrophy Controls phosphatidylcholine synthesis. The serine residues of the C-terminus are phosphorylated. The inactive soluble form is stabilized by phosphorylation, the active membrane bound form is promoted by anionic lipids or diacylglycerol, and is stabilized by dephosphorylation (By similarity).;Monoubiquitinated by the SCF(FBXL2) complex, leading to proteasomal degradation. Belongs to the cytidylyltransferase family. Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from phosphocholine: step 1/2.;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PC PE1 3 +NX_P49588 Alanine--tRNA ligase, cytoplasmic 968 106810 5.34 0 Cytoplasm;Cytosol Epileptic encephalopathy, early infantile, 29;Charcot-Marie-Tooth disease 2N Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala) (PubMed:27622773, PubMed:27911835, PubMed:28493438). Also edits incorrectly charged tRNA(Ala) via its editing domain (PubMed:27622773, PubMed:27911835, PubMed:28493438). ISGylated. Belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Cytosolic tRNA aminoacylation PE1 16 +NX_P49589 Cysteine--tRNA ligase, cytoplasmic 748 85473 6.31 0 Cytoplasm;Cytosol NA NA NA Belongs to the class-I aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Cytosolic tRNA aminoacylation PE1 11 +NX_P49590 Probable histidine--tRNA ligase, mitochondrial 506 56888 8.53 0 Mitochondrion matrix;Cytosol Perrault syndrome 2 NA NA Belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation PE1 5 +NX_P49591 Serine--tRNA ligase, cytoplasmic 514 58777 6.05 0 Cytoplasm;Cytosol;Nucleus Neurodevelopmental disorder with microcephaly, ataxia, and seizures Catalyzes the attachment of serine to tRNA(Ser) in a two-step reaction: serine is first activated by ATP to form Ser-AMP and then transferred to the acceptor end of tRNA(Ser) (PubMed:22353712, PubMed:24095058, PubMed:9431993, PubMed:26433229, PubMed:28236339). Is probably also able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec) (PubMed:9431993, PubMed:26433229, PubMed:28236339). In the nucleus, binds to the VEGFA core promoter and prevents MYC binding and transcriptional activation by MYC (PubMed:24940000). Recruits SIRT2 to the VEGFA promoter, promoting deacetylation of histone H4 at 'Lys-16' (H4K16). Thereby, inhibits the production of VEGFA and sprouting angiogenesis mediated by VEGFA (PubMed:19423848, PubMed:19423847, PubMed:24940000). NA Belongs to the class-II aminoacyl-tRNA synthetase family. Type-1 seryl-tRNA synthetase subfamily. Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; L-seryl-tRNA(Sec) from L-serine and tRNA(Sec): step 1/1.;Aminoacyl-tRNA biosynthesis;Cytosolic tRNA aminoacylation;Selenocysteine synthesis PE1 1 +NX_P49593 Protein phosphatase 1F 454 49831 4.99 0 Nucleoplasm;Cell membrane NA Dephosphorylates and concomitantly deactivates CaM-kinase II activated upon autophosphorylation, and CaM-kinases IV and I activated upon phosphorylation by CaM-kinase kinase. Promotes apoptosis. NA Belongs to the PP2C family. Negative regulation of NMDA receptor-mediated neuronal transmission PE1 22 +NX_P49619 Diacylglycerol kinase gamma 791 89124 6.36 0 Membrane;Cytoplasm;Cytoplasmic vesicle;Cell membrane NA Reverses the normal flow of glycerolipid biosynthesis by phosphorylating diacylglycerol back to phosphatidic acid. NA Belongs to the eukaryotic diacylglycerol kinase family. Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Effects of PIP2 hydrolysis PE1 3 +NX_P49638 Alpha-tocopherol transfer protein 278 31750 7.17 0 Cytoplasm Ataxia with isolated vitamin E deficiency Binds alpha-tocopherol, enhances its transfer between separate membranes, and stimulates its release from liver cells (PubMed:7887897). Binds both phosphatidylinol 3,4-bisphosphate and phosphatidylinol 4,5-bisphosphate; the resulting conformation change is important for the release of the bound alpha-tocopherol (By similarity). NA NA Vitamin E PE1 8 +NX_P49639 Homeobox protein Hox-A1 335 36641 8.13 0 Nucleus Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome Sequence-specific transcription factor (By similarity). Regulates multiple developmental processes including brainstem, inner and outer ear, abducens nerve and cardiovascular development and morphogenesis as well as cognition and behavior (PubMed:16155570). Also part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments (By similarity). Activates transcription in the presence of PBX1A and PKNOX1 (By similarity). NA Belongs to the Antp homeobox family. Labial subfamily. Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 7 +NX_P49640 Homeobox even-skipped homolog protein 1 407 42440 6.41 0 Nucleoplasm;Nucleus NA May play a role in the specification of neuronal cell types. NA Belongs to the even-skipped homeobox family. NA PE2 7 +NX_P49641 Alpha-mannosidase 2x 1150 130539 6.35 1 Cytosol;Golgi apparatus membrane NA Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N-glycans; the final hydrolytic step in the N-glycan maturation pathway. NA Belongs to the glycosyl hydrolase 38 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Reactions specific to the complex N-glycan synthesis pathway;Intra-Golgi traffic PE1 15 +NX_P49642 DNA primase small subunit 420 49902 8.39 0 Cytoplasmic vesicle NA DNA primase is the polymerase that synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. NA Belongs to the eukaryotic-type primase small subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;DNA replication;Activation of the pre-replicative complex;Inhibition of replication initiation of damaged DNA by RB1/E2F1;Polymerase switching on the C-strand of the telomere;Polymerase switching;Removal of the Flap Intermediate;Processive synthesis on the lagging strand;Telomere C-strand synthesis initiation;DNA replication initiation PE1 12 +NX_P49643 DNA primase large subunit 509 58806 7.97 0 Nucleoplasm NA DNA primase is the polymerase that synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. NA Belongs to the eukaryotic-type primase large subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;DNA replication;Activation of the pre-replicative complex;Inhibition of replication initiation of damaged DNA by RB1/E2F1;Polymerase switching on the C-strand of the telomere;Polymerase switching;Removal of the Flap Intermediate;Processive synthesis on the lagging strand;Telomere C-strand synthesis initiation;DNA replication initiation PE1 6 +NX_P49662 Caspase-4 377 43262 5.69 0 Endoplasmic reticulum membrane;Mitochondrion;Inflammasome;Cell membrane;Secreted;Cytosol NA Inflammatory caspase (PubMed:7797510, PubMed:23516580, PubMed:25119034). Essential effector of NLRP3 inflammasome-dependent CASP1 activation and IL1B and IL18 secretion in response to non-canonical activators, such as UVB radiation, cholera enterotoxin subunit B and cytosolic LPS (PubMed:22246630, PubMed:26174085, PubMed:26173988, PubMed:26508369, PubMed:25964352). Independently of NLRP3 inflammasome and CASP1, promotes pyroptosis, through GSDMD cleavage and activation, and IL1A, IL18 and HMGB1 release in response to non-canonical inflammasome activators (PubMed:24879791, PubMed:25964352). Plays a crucial role in the restriction of Salmonella typhimurium replication in colonic epithelial cells during infection (PubMed:25121752). In later stages of the infection, LPS from cytosolic Salmonella triggers CASP4 activation, which ultimately results in pyroptosis of infected cells and their extrusion into the gut lumen, as well as in IL18 secretion. Pyroptosis limits bacterial replication, while cytokine secretion promotes the recruitment and activation of immune cells and triggers mucosal inflammation. Involved in LPS-induced IL6 secretion; this activity may not require caspase enzymatic activity (PubMed:26508369). Involved in cell death induced by endoplasmic reticulum stress and by treatment with cytotoxic APP peptides found Alzheimer's patient brains (PubMed:15123740, PubMed:22246630, PubMed:23661706). Activated by direct binding to LPS without the need of an upstream sensor (PubMed:25119034). Does not directly process IL1B (PubMed:7743998, PubMed:7797592, PubMed:7797510). During non-canonical inflammasome activation, cuts CGAS and may play a role in the regulation of antiviral innate immune activation (PubMed:28314590). In response to activation signals, including endoplasmic reticulum stress or treatment with amyloid-beta A4 protein fragments (such as amyloid-beta protein 40), undergoes autoproteolytic cleavage. Belongs to the peptidase C14A family. NOD1/2 Signaling Pathway PE1 11 +NX_P49674 Casein kinase I isoform epsilon 416 47315 9.68 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. Can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates DVL1 and DVL2. Central component of the circadian clock. In balance with PP1, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. Controls PER1 and PER2 nuclear transport and degradation. Inhibits cytokine-induced granuloytic differentiation. Autophosphorylated. Partially dephosphorylated by PPP5C. May be dephosphorylated by PP1.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. Casein kinase I subfamily. Wnt signaling pathway;Hedgehog signaling pathway;Circadian rhythm - mammal;Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Circadian Clock;Recruitment of NuMA to mitotic centrosomes;WNT mediated activation of DVL;AURKA Activation by TPX2;Major pathway of rRNA processing in the nucleolus and cytosol PE1 22 +NX_P49675 Steroidogenic acute regulatory protein, mitochondrial 285 31914 9.17 0 Mitochondrion Adrenal hyperplasia 1 Plays a key role in steroid hormone synthesis by enhancing the metabolism of cholesterol into pregnenolone. Mediates the transfer of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane where it is cleaved to pregnenolone. NA NA Steroid metabolism; cholesterol metabolism.;Pregnenolone biosynthesis PE1 8 +NX_P49682 C-X-C chemokine receptor type 3 368 40660 7.92 7 Cell membrane NA Receptor for the C-X-C chemokine CXCL9, CXCL10 and CXCL11 and mediates the proliferation, survival and angiogenic activity of human mesangial cells (HMC) through a heterotrimeric G-protein signaling pathway (PubMed:12782716). Binds to CCL21. Probably promotes cell chemotaxis response.;Mediates the activity of CXCL11.;Receptor for the C-X-C chemokine CXCL4 and also mediates the inhibitory activities of CXCL9, CXCL10 and CXCL11 on the proliferation, survival and angiogenic activity of human microvascular endothelial cells (HMVEC) through a cAMP-mediated signaling pathway (PubMed:12782716). Does not promote cell chemotaxis respons. Interaction with CXCL4 or CXCL10 leads to activation of the p38MAPK pathway and contributes to inhibition of angiogenesis. Overexpression in renal cancer cells down-regulates expression of the anti-apoptotic protein HMOX1 and promotes apoptosis. Sulfation on Tyr-27 and Tyr-29 is essential for CXCL10 binding and subsequent signal transduction induction.;N-glycosylated. Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 X +NX_P49683 Prolactin-releasing peptide receptor 370 41121 9.43 7 Cell membrane NA Receptor for prolactin-releasing peptide (PrRP). Implicated in lactation, regulation of food intake and pain-signal processing. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Peptide ligand-binding receptors PE1 10 +NX_P49685 G-protein coupled receptor 15 360 40787 9.01 7 Cell membrane NA Probable chemokine receptor. Alternative coreceptor with CD4 for HIV-1 infection. NA Belongs to the G-protein coupled receptor 1 family. G alpha (s) signalling events PE1 3 +NX_P49703 ADP-ribosylation factor-like protein 4D 201 22156 9.94 0 Golgi apparatus;Cytoplasm;Cell membrane;Nucleolus;Cytoplasmic vesicle;Nucleus NA Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in GDP-bound form. NA Belongs to the small GTPase superfamily. Arf family. NA PE1 17 +NX_P49711 Transcriptional repressor CTCF 727 82785 6.51 0 Nucleoplasm;Centromere;Chromosome Mental retardation, autosomal dominant 21 Chromatin binding factor that binds to DNA sequence specific sites. Involved in transcriptional regulation by binding to chromatin insulators and preventing interaction between promoter and nearby enhancers and silencers. Acts as transcriptional repressor binding to promoters of vertebrate MYC gene and BAG1 gene. Also binds to the PLK and PIM1 promoters. Acts as a transcriptional activator of APP. Regulates APOA1/C3/A4/A5 gene cluster and controls MHC class II gene expression. Plays an essential role in oocyte and preimplantation embryo development by activating or repressing transcription. Seems to act as tumor suppressor. Plays a critical role in the epigenetic regulation. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, binding within the H19 imprinting control region (ICR) mediates maternally inherited higher-order chromatin conformation to restrict enhancer access to IGF2. Plays a critical role in gene silencing over considerable distances in the genome. Preferentially interacts with unmethylated DNA, preventing spreading of CpG methylation and maintaining methylation-free zones. Inversely, binding to target sites is prevented by CpG methylation. Plays an important role in chromatin remodeling. Can dimerize when it is bound to different DNA sequences, mediating long-range chromatin looping. Mediates interchromosomal association between IGF2/H19 and WSB1/NF1 and may direct distant DNA segments to a common transcription factory. Causes local loss of histone acetylation and gain of histone methylation in the beta-globin locus, without affecting transcription. When bound to chromatin, it provides an anchor point for nucleosomes positioning. Seems to be essential for homologous X-chromosome pairing. May participate with Tsix in establishing a regulatable epigenetic switch for X chromosome inactivation. May play a role in preventing the propagation of stable methylation at the escape genes from X- inactivation. Involved in sister chromatid cohesion. Associates with both centromeres and chromosomal arms during metaphase and required for cohesin localization to CTCF sites. Regulates asynchronous replication of IGF2/H19. Plays a role in the recruitment of CENPE to the pericentromeric/centromeric regions of the chromosome during mitosis (PubMed:26321640). Sumoylated on Lys-74 and Lys-689; sumoylation of CTCF contributes to the repressive function of CTCF on the MYC P2 promoter. Belongs to the CTCF zinc-finger protein family. Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 16 +NX_P49715 CCAAT/enhancer-binding protein alpha 358 37561 7.27 0 Nucleoplasm;Nucleolus;Nucleus;Cytoplasmic vesicle Leukemia, acute myelogenous Can act as dominant-negative. Binds DNA and have transctivation activity, even if much less efficiently than isoform 2. Does not inhibit cell proliferation (PubMed:14660596).;Directly and specifically enhances ribosomal DNA transcription interacting with RNA polymerase I-specific cofactors and inducing histone acetylation.;Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta. Binds directly to the consensus DNA sequence 5'-T[TG]NNGNAA[TG]-3' acting as an activator on distinct target genes (PubMed:11242107). During early embryogenesis, plays essential and redundant functions with CEBPB. Essential for the transition from common myeloid progenitors (CMP) to granulocyte/monocyte progenitors (GMP). Critical for the proper development of the liver and the lung (By similarity). Necessary for terminal adipocyte differentiation, is required for postnatal maintenance of systemic energy homeostasis and lipid storage (By similarity). To regulate these different processes at the proper moment and tissue, interplays with other transcription factors and modulators. Downregulates the expression of genes that maintain cells in an undifferentiated and proliferative state through E2F1 repression, which is critical for its ability to induce adipocyte and granulocyte terminal differentiation. Reciprocally E2F1 blocks adipocyte differentiation by binding to specific promoters and repressing CEBPA binding to its target gene promoters. Proliferation arrest also depends on a functional binding to SWI/SNF complex (PubMed:14660596). In liver, regulates gluconeogenesis and lipogenesis through different mechanisms. To regulate gluconeogenesis, functionally cooperates with FOXO1 binding to IRE-controlled promoters and regulating the expression of target genes such as PCK1 or G6PC. To modulate lipogenesis, interacts and transcriptionally synergizes with SREBF1 in promoter activation of specific lipogenic target genes such as ACAS2. In adipose tissue, seems to act as FOXO1 coactivator accessing to ADIPOQ promoter through FOXO1 binding sites (By similarity). Ubiquitinated by COP1 upon interaction with TRIB1.;Sumoylated, sumoylation blocks the inhibitory effect on cell proliferation by disrupting the interaction with SMARCA2.;Phosphorylation at Ser-190 is required for interaction with CDK2, CDK4 and SWI/SNF complex leading to cell cycle inhibition. Dephosphorylated at Ser-190 by protein phosphatase 2A (PP2A) through PI3K/AKT signaling pathway regulation (PubMed:15107404). Phosphorylation at Thr-226 and Thr-230 by GSK3 is constitutive in adipose tissue and lung. In liver, both Thr-226 and Thr-230 are phosphorylated only during feeding but not during fasting. Phosphorylation of the GSK3 consensus sites selectively decreases transactivation activity on IRE-controlled promoters. Belongs to the bZIP family. C/EBP subfamily. Pathways in cancer;Acute myeloid leukemia;Transcriptional regulation of white adipocyte differentiation;Transcriptional regulation of granulopoiesis PE1 19 +NX_P49716 CCAAT/enhancer-binding protein delta 269 28467 8.44 0 Nucleoplasm;Nucleus NA Transcription activator that recognizes two different DNA motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers (PubMed:16397300). Important transcription factor regulating the expression of genes involved in immune and inflammatory responses (PubMed:1741402, PubMed:16397300). Transcriptional activator that enhances IL6 transcription alone and as heterodimer with CEBPB (PubMed:1741402). NA Belongs to the bZIP family. C/EBP subfamily. Transcriptional regulation of white adipocyte differentiation;Interleukin-4 and Interleukin-13 signaling PE1 8 +NX_P49720 Proteasome subunit beta type-3 205 22949 6.14 0 Cytoplasm;Nucleus NA Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). NA Belongs to the peptidase T1B family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 17 +NX_P49721 Proteasome subunit beta type-2 201 22836 6.52 0 Cytoplasm;Nucleoplasm;Nucleus NA Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). NA Belongs to the peptidase T1B family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 1 +NX_P49736 DNA replication licensing factor MCM2 904 101896 5.34 0 Nucleoplasm;Nucleus Deafness, autosomal dominant, 70 Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. Required for the entry in S phase and for cell division. Plays a role in terminally differentiated hair cells development of the cochlea and induces cells apoptosis. Phosphorylated on Ser-108 by ATR in proliferating cells. Ser-108 proliferation is increased by genotoxic agents. Ser-40 is mediated by the CDC7-DBF4 and CDC7-DBF4B complexes, while Ser-53 phosphorylation is only mediated by the CDC7-DBF4 complex. Phosphorylation by the CDC7-DBF4 complex during G1/S phase is required for the initiation of DNA replication. Belongs to the MCM family. DNA replication;Cell cycle;Orc1 removal from chromatin;Activation of ATR in response to replication stress;Assembly of the pre-replicative complex;Activation of the pre-replicative complex;Unwinding of DNA;Switching of origins to a post-replicative state PE1 3 +NX_P49746 Thrombospondin-3 956 104201 4.43 0 Cytoplasmic vesicle NA Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Can bind to fibrinogen, fibronectin, laminin and type V collagen. NA Belongs to the thrombospondin family. Phagosome;TGF-beta signaling pathway;Focal adhesion;ECM-receptor interaction;Malaria;Signaling by PDGF PE1 1 +NX_P49747 Cartilage oligomeric matrix protein 757 82860 4.36 0 Golgi apparatus;Extracellular matrix Pseudoachondroplasia;Multiple epiphyseal dysplasia 1 May play a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2, BIRC5 and XIAP). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7 (By similarity). NA Belongs to the thrombospondin family. Phagosome;TGF-beta signaling pathway;Focal adhesion;ECM-receptor interaction;Malaria;Integrin cell surface interactions;ECM proteoglycans PE1 19 +NX_P49748 Very long-chain specific acyl-CoA dehydrogenase, mitochondrial 655 70390 8.92 0 Mitochondrion;Nucleolus;Nucleoplasm;Cytosol;Mitochondrion inner membrane Acyl-CoA dehydrogenase very long-chain deficiency Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, myristoyl-CoA and stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons. S-nitrosylation at Cys-237 in liver improves catalytic efficiency. Belongs to the acyl-CoA dehydrogenase family. Lipid metabolism; mitochondrial fatty acid beta-oxidation.;Fatty acid metabolism;Metabolic pathways;XBP1(S) activates chaperone genes;Beta oxidation of palmitoyl-CoA to myristoyl-CoA PE1 17 +NX_P49750 YLP motif-containing protein 1 2146 241645 6.12 0 Nucleoplasm;Nucleus speckle;Nucleus NA Plays a role in the reduction of telomerase activity during differentiation of embryonic stem cells by binding to the core promoter of TERT and controlling its down-regulation. NA NA NA PE1 14 +NX_P49753 Acyl-coenzyme A thioesterase 2, mitochondrial 483 53218 8.7 0 Mitochondrion NA Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH (PubMed:16940157). Acyl-coenzyme A thioesterase 2/ACOT2 displays higher activity toward long chain acyl CoAs (C14-C20) (PubMed:16940157, PubMed:10944470). The enzyme is involved in enhancing the hepatic fatty acid oxidation in mitochondria (By similarity). NA Belongs to the C/M/P thioester hydrolase family. Lipid metabolism; fatty acid metabolism.;Fatty acid elongation;Biosynthesis of unsaturated fatty acids;Mitochondrial Fatty Acid Beta-Oxidation;Peroxisomal protein import PE1 14 +NX_P49754 Vacuolar protein sorting-associated protein 41 homolog 854 98566 5.56 0 trans-Golgi network;Clathrin-coated vesicle;Endosome membrane;Early endosome;Late endosome;Lysosome NA Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act in part as a core component of the putative HOPS endosomal tethering complex is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes (PubMed:23351085). Involved in homotypic vesicle fusions between late endosomes and in heterotypic fusions between late endosomes and lysosomes implicated in degradation of endocytosed cargo (PubMed:9159129, PubMed:23167963, PubMed:25445562, PubMed:25908847). Required for fusion of autophagosomes with lysosomes (PubMed:25783203). May link the HOPS complex to endosomal Rab7 via its association with RILP and to lysosomal membranes via its association with ARL8B, suggesting that these interactions may bring the compartments to close proximity for fusion (PubMed:25445562, PubMed:25908847). Involved in the direct trans-Golgi network to late endosomes transport of lysosomal membrane proteins independently of HOPS (PubMed:23322049). Involved in sorting to the regulated secretory pathway presumably implicating the AP-3 adaptor complex (By similarity). May play a role in HOPS-independent function in the regulated secretory pathway (PubMed:24210660). NA Belongs to the VPS41 family. NA PE1 7 +NX_P49755 Transmembrane emp24 domain-containing protein 10 219 24976 6.98 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus;Endoplasmic reticulum membrane;Cell membrane;trans-Golgi network membrane;cis-Golgi network membrane;Secretory vesicle membrane;Melanosome NA Involved in vesicular protein trafficking. Mainly functions in the early secretory pathway. Thought to act as cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and to be involved in vesicle coat formation at the cytoplasmic side. In COPII vesicle-mediated anterograde transport involved in the transport of GPI-anchored proteins and proposed to act together with TMED2 as their cargo receptor; the function specifically implies SEC24C and SEC24D of the COPII vesicle coat and lipid raft-like microdomains of the ER. Recognizes GPI anchors structural remodeled in the ER by PGAP1 and MPPE1 (By similarity). In COPI vesicle-mediated retrograde transport involved in the biogenesis of COPI vesicles and vesicle coat recruitment. On Golgi membranes, acts as primary receptor for ARF1-GDP which is involved in COPI-vesicle formation. Increases coatomer-dependent GTPase-activating activity of ARFGAP2. Involved in trafficking of G protein-coupled receptors (GPCRs). Regulates F2LR1, OPRM1 and P2RY4 exocytic trafficking from the Golgi to the plasma membrane thus contributing to receptor resensitization. Involved in trafficking of amyloid beta A4 protein and soluble APP-beta release (independent of modulation of gamma-secretase activity). As part of the presenilin-dependent gamma-secretase complex regulates gamma-cleavages of the amyloid beta A4 protein to yield amyloid-beta 40 (Abeta40). Involved in organization of the Golgi apparatus. NA Belongs to the EMP24/GP25L family. COPII-mediated vesicle transport;Cargo concentration in the ER;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 14 +NX_P49756 RNA-binding protein 25 843 100185 6.06 0 Cytoplasm;Nucleus speckle NA RNA-binding protein that acts as a regulator of alternative pre-mRNA splicing. Involved in apoptotic cell death through the regulation of the apoptotic factor BCL2L1 isoform expression. Modulates the ratio of proapoptotic BCL2L1 isoform S to antiapoptotic BCL2L1 isoform L mRNA expression. When overexpressed, stimulates proapoptotic BCL2L1 isoform S 5'-splice site (5'-ss) selection, whereas its depletion caused the accumulation of antiapoptotic BCL2L1 isoform L. Promotes BCL2L1 isoform S 5'-ss usage through the 5'-CGGGCA-3' RNA sequence. Its association with LUC7L3 promotes U1 snRNP binding to a weak 5' ss in a 5'-CGGGCA-3'-dependent manner. Binds to the exonic splicing enhancer 5'-CGGGCA-3' RNA sequence located within exon 2 of the BCL2L1 pre-mRNA. Also involved in the generation of an abnormal and truncated splice form of SCN5A in heart failure. Sumoylated. NA Spliceosome PE1 14 +NX_P49757 Protein numb homolog 651 70804 8.79 0 Membrane;Cell junction NA Plays a role in the process of neurogenesis. Required throughout embryonic neurogenesis to maintain neural progenitor cells, also called radial glial cells (RGCs), by allowing their daughter cells to choose progenitor over neuronal cell fate. Not required for the proliferation of neural progenitor cells before the onset of neurogenesis. Also involved postnatally in the subventricular zone (SVZ) neurogenesis by regulating SVZ neuroblasts survival and ependymal wall integrity. May also mediate local repair of brain ventricular wall damage. Are ubiquitinated by LNX leading to their subsequent proteasomal degradation (By similarity). Ubiquitinated; mediated by SIAH1 and leading to its subsequent proteasomal degradation.;Phosphorylated on Ser-276 and Ser-295 by CaMK1.;NUMB is phosphorylated by PRKCZ (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Notch signaling pathway;Degradation of GLI1 by the proteasome;Hedgehog 'on' state;Recycling pathway of L1;Activated NOTCH1 Transmits Signal to the Nucleus PE1 14 +NX_P49758 Regulator of G-protein signaling 6 472 54423 7.05 0 Cytoplasm;Cell membrane;Nucleolus;Membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. The RGS6/GNB5 dimer enhances GNAO1 GTPase activity (PubMed:10521509). NA NA G alpha (i) signalling events;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding PE1 14 +NX_P49759 Dual specificity protein kinase CLK1 484 57291 9.05 0 Nucleoplasm;Nucleus;Nucleus membrane NA Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex and may be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing. Phosphorylates: SRSF1, SRSF3 and PTPN1. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells and adenovirus E1A pre-mRNA. Autophosphorylates on all three types of residues.;Autophosphorylated (Phosphotyrosine:PTM-0255);CLK1 is phosphorylated by AKT2 (Phosphoserine,Phosphotyrosine:PTM-0253,PTM-0255) Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. Lammer subfamily. Legionellosis PE1 2 +NX_P49760 Dual specificity protein kinase CLK2 499 60090 9.69 0 Nucleoplasm;Nucleus speckle;Nucleus NA Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex. May be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing and can cause redistribution of SR proteins from speckles to a diffuse nucleoplasmic distribution. Acts as a suppressor of hepatic gluconeogenesis and glucose output by repressing PPARGC1A transcriptional activity on gluconeogenic genes via its phosphorylation. Phosphorylates PPP2R5B thereby stimulating the assembly of PP2A phosphatase with the PPP2R5B-AKT1 complex leading to dephosphorylation of AKT1. Phosphorylates: PTPN1, SRSF1 and SRSF3. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells. Phosphorylates PAGE4 at several serine and threonine residues and this phosphorylation attenuates the ability of PAGE4 to potentiate the transcriptional activator activity of JUN (PubMed:28289210). Autophosphorylates on all three types of residues. Phosphorylation on Ser-34 and Thr-127 by AKT1 is induced by ionizing radiation or insulin. Phosphorylation plays a critical role in cell proliferation following low dose radiation and prevents cell death following high dose radiation. Phosphorylation at Thr-344 by PKB/AKT2 induces its kinase activity which is required for its stability. The phosphorylation status at Ser-142 influences its subnuclear localization; inhibition of phosphorylation at Ser-142 results in accumulation in the nuclear speckle. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. Lammer subfamily. NA PE1 1 +NX_P49761 Dual specificity protein kinase CLK3 638 73515 9.94 0 Cytoplasm;Nucleus speckle;Acrosome;Nucleoplasm;Nucleus;Cytoskeleton NA Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex. May be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing and can cause redistribution of SR proteins from speckles to a diffuse nucleoplasmic distribution. Phosphorylates SRSF1 and SRSF3. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells. Autophosphorylates on all three types of residues. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. Lammer subfamily. NA PE1 15 +NX_P49763 Placenta growth factor 221 24789 8.52 0 Nucleoplasm;Cytosol;Mitochondrion;Secreted NA Binds NRP1/neuropilin-1 and NRP2/neuropilin-2 in a heparin-dependent manner. Also promotes cell tumor growth.;Growth factor active in angiogenesis and endothelial cell growth, stimulating their proliferation and migration. It binds to the receptor FLT1/VEGFR-1. N-glycosylated. Belongs to the PDGF/VEGF growth factor family. mTOR signaling pathway;Focal adhesion;Pathways in cancer;Renal cell carcinoma;Pancreatic cancer;Bladder cancer;Rheumatoid arthritis;VEGF ligand-receptor interactions;VEGF binds to VEGFR leading to receptor dimerization PE1 14 +NX_P49765 Vascular endothelial growth factor B 207 21602 8.46 0 Secreted NA Growth factor for endothelial cells. VEGF-B167 binds heparin and neuropilin-1 whereas the binding to neuropilin-1 of VEGF-B186 is regulated by proteolysis. VEGF-B186 is O-glycosylated. Belongs to the PDGF/VEGF growth factor family. Cytokine-cytokine receptor interaction;mTOR signaling pathway;Focal adhesion;Pathways in cancer;Renal cell carcinoma;Pancreatic cancer;Bladder cancer;Rheumatoid arthritis;Platelet degranulation;VEGF ligand-receptor interactions;VEGF binds to VEGFR leading to receptor dimerization PE1 11 +NX_P49767 Vascular endothelial growth factor C 419 46883 7.77 0 Secreted Lymphatic malformation 4 Growth factor active in angiogenesis, and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels. May function in angiogenesis of the venous and lymphatic vascular systems during embryogenesis, and also in the maintenance of differentiated lymphatic endothelium in adults. Binds and activates KDR/VEGFR2 and FLT4/VEGFR3 receptors. Undergoes a complex proteolytic maturation which generates a variety of processed secreted forms with increased activity toward VEGFR-3, but only the fully processed form could activate VEGFR-2. VEGF-C first form an antiparallel homodimer linked by disulfide bonds. Before secretion, a cleavage occurs between Arg-227 and Ser-228 producing a heterotetramer. The next extracellular step of the processing removes the N-terminal propeptide. Finally the mature VEGF-C is composed mostly of two VEGF homology domains (VHDs) bound by non-covalent interactions. Belongs to the PDGF/VEGF growth factor family. Cytokine-cytokine receptor interaction;mTOR signaling pathway;Focal adhesion;Pathways in cancer;Renal cell carcinoma;Pancreatic cancer;Bladder cancer;Platelet degranulation;VEGF ligand-receptor interactions;VEGF binds to VEGFR leading to receptor dimerization PE1 4 +NX_P49768 Presenilin-1 467 52668 5.18 9 Golgi apparatus;Endoplasmic reticulum membrane;Cell membrane;Early endosome;Growth cone;Cell junction;Nucleoplasm;Endoplasmic reticulum;Synapse;Golgi apparatus membrane;Early endosome membrane;Neuron projection;Axon;Cytoplasmic granule Pick disease of the brain;Frontotemporal dementia;Cardiomyopathy, dilated 1U;Alzheimer disease 3;Acne inversa, familial, 3 Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:15274632, PubMed:10545183, PubMed:10593990, PubMed:10206644, PubMed:10899933, PubMed:10811883, PubMed:12679784, PubMed:12740439, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874, PubMed:28269784, PubMed:20460383). Requires the presence of the other members of the gamma-secretase complex for protease activity (PubMed:15274632, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). Plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (PubMed:9738936, PubMed:10593990, PubMed:10899933, PubMed:10811883). Stimulates cell-cell adhesion via its interaction with CDH1; this stabilizes the complexes between CDH1 (E-cadherin) and its interaction partners CTNNB1 (beta-catenin), CTNND1 and JUP (gamma-catenin) (PubMed:11953314). Under conditions of apoptosis or calcium influx, cleaves CDH1 (PubMed:11953314). This promotes the disassembly of the complexes between CDH1 and CTNND1, JUP and CTNNB1, increases the pool of cytoplasmic CTNNB1, and thereby negatively regulates Wnt signaling (PubMed:9738936, PubMed:11953314). Required for normal embryonic brain and skeleton development, and for normal angiogenesis (By similarity). Mediates the proteolytic cleavage of EphB2/CTF1 into EphB2/CTF2 (PubMed:17428795, PubMed:28269784). The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is therefore involved in calcium homeostasis (PubMed:25394380, PubMed:16959576). Involved in the regulation of neurite outgrowth (PubMed:15004326, PubMed:20460383). Is a regulator of presynaptic facilitation, spike transmission and synaptic vesicles replenishment in a process that depends on gamma-secretase activity. It acts through the control of SYT7 presynaptic expression (By similarity). Heterogeneous proteolytic processing generates N-terminal (NTF) and C-terminal (CTF) fragments of approximately 35 and 20 kDa, respectively. During apoptosis, the C-terminal fragment (CTF) is further cleaved by caspase-3 to produce the fragment, PS1-CTF12.;After endoproteolysis, the C-terminal fragment (CTF) is phosphorylated on serine residues by PKA and/or PKC. Phosphorylation on Ser-346 inhibits endoproteolysis. Belongs to the peptidase A22A family. Wnt signaling pathway;Notch signaling pathway;Neurotrophin signaling pathway;Alzheimer's disease;Degradation of the extracellular matrix;EPH-ephrin mediated repulsion of cells;Nuclear signaling by ERBB4;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activated NOTCH1 Transmits Signal to the Nucleus;Regulated proteolysis of p75NTR;NOTCH2 Activation and Transmission of Signal to the Nucleus;NRIF signals cell death from the nucleus;Neutrophil degranulation;NOTCH3 Activation and Transmission of Signal to the Nucleus;Noncanonical activation of NOTCH3;NOTCH4 Activation and Transmission of Signal to the Nucleus PE1 14 +NX_P49770 Translation initiation factor eIF-2B subunit beta 351 38990 5.77 0 Nucleoplasm;Focal adhesion;Cell membrane Leukodystrophy with vanishing white matter Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. NA Belongs to the eIF-2B alpha/beta/delta subunits family. RNA transport;Recycling of eIF2:GDP PE1 14 +NX_P49771 Fms-related tyrosine kinase 3 ligand 235 26416 7.6 1 Secreted;Cell membrane NA Stimulates the proliferation of early hematopoietic cells by activating FLT3. Synergizes well with a number of other colony stimulating factors and interleukins. NA NA Cytokine-cytokine receptor interaction;Hematopoietic cell lineage;Pathways in cancer;RAF/MAP kinase cascade;PI3K Cascade;FLT3 Signaling;STAT5 Activation PE1 19 +NX_P49773 Histidine triad nucleotide-binding protein 1 126 13802 6.43 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus Neuromyotonia and axonal neuropathy, autosomal recessive Hydrolyzes purine nucleotide phosphoramidates with a single phosphate group, including adenosine 5'monophosphoramidate (AMP-NH2), adenosine 5'monophosphomorpholidate (AMP-morpholidate) and guanosine 5'monophosphomorpholidate (GMP-morpholidate). Hydrolyzes lysyl-AMP (AMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) generated by lysine tRNA ligase, as well as Met-AMP, His-AMP and Asp-AMP, lysyl-GMP (GMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) and AMP-N-alanine methyl ester. Can also convert adenosine 5'-O-phosphorothioate and guanosine 5'-O-phosphorothioate to the corresponding nucleoside 5'-O-phosphates with concomitant release of hydrogen sulfide. In addition, functions as scaffolding protein that modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex and by the complex formed with MITF and CTNNB1. Modulates p53/TP53 levels and p53/TP53-mediated apoptosis. Modulates proteasomal degradation of target proteins by the SCF (SKP2-CUL1-F-box protein) E3 ubiquitin-protein ligase complex. NA Belongs to the HINT family. NA PE1 5 +NX_P49788 Retinoic acid receptor responder protein 1 294 33285 8.74 1 Membrane;Golgi apparatus;Endoplasmic reticulum NA Inhibitor of the cytoplasmic carboxypeptidase AGBL2, may regulate the alpha-tubulin tyrosination cycle. Not glycosylated. Belongs to the protease inhibitor I47 (latexin) family. NA PE1 3 +NX_P49789 Bis(5'-adenosyl)-triphosphatase 147 16858 6.54 0 Cytoplasm;Mitochondrion;Cell membrane;Nucleolus;Nucleus NA Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. Can also hydrolyze P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP. Modulates transcriptional activation by CTNNB1 and thereby contributes to regulate the expression of genes essential for cell proliferation and survival, such as CCND1 and BIRC5. Plays a role in the induction of apoptosis via SRC and AKT1 signaling pathways. Inhibits MDM2-mediated proteasomal degradation of p53/TP53 and thereby plays a role in p53/TP53-mediated apoptosis. Induction of apoptosis depends on the ability of FHIT to bind P(1)-P(3)-bis(5'-adenosyl) triphosphate or related compounds, but does not require its catalytic activity, it may in part come from the mitochondrial form, which sensitizes the low-affinity Ca(2+) transporters, enhancing mitochondrial calcium uptake. Functions as tumor suppressor. Phosphorylation at Tyr-114 by SRC is required for induction of apoptosis. NA Purine metabolism;Small cell lung cancer;Non-small cell lung cancer PE1 3 +NX_P49790 Nuclear pore complex protein Nup153 1475 153938 8.97 0 Nucleus membrane;Nucleus;Nuclear pore complex NA Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs. Involved in the quality control and retention of unspliced mRNAs in the nucleus; in association with TPR, regulates the nuclear export of unspliced mRNA species bearing constitutive transport element (CTE) in a NXF1- and KHDRBS1-independent manner. Mediates TPR anchoring to the nuclear membrane at NPC. The repeat-containing domain may be involved in anchoring other components of the NPC to the pore membrane. Possible DNA-binding subunit of the nuclear pore complex (NPC). O-glycosylated during cytokinesis at sites identical or close to phosphorylation sites, this interferes with the phosphorylation status.;Proteolytically degraded after poliovirus (PV) infection; degradation is partial and NCP- and TPR-binding domains withstand degradation.;Phosphorylated in interphase, hyperphosphorylated during mitosis. May play a role in the reversible disassembly of the nuclear pore complex during mitosis (By similarity). Belongs to the NUP153 family. RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 6 +NX_P49792 E3 SUMO-protein ligase RanBP2 3224 358199 5.86 0 Nucleus membrane;Nucleus envelope;Nucleus;Nuclear pore complex Encephalopathy, acute, infection-induced, 3 E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I (PubMed:11792325, PubMed:12032081, PubMed:15378033, PubMed:22194619, PubMed:15931224). Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates (PubMed:7775481). Binds single-stranded RNA (in vitro) (PubMed:7775481). May bind DNA (PubMed:7775481). Component of the nuclear export pathway (PubMed:10078529). Specific docking site for the nuclear export factor exportin-1 (PubMed:10078529). Sumoylates PML at 'Lys-490' which is essential for the proper assembly of PML-NB (PubMed:22155184). Recruits BICD2 to the nuclear envelope and cytoplasmic stacks of nuclear pore complex known as annulate lamellae during G2 phase of cell cycle (PubMed:20386726). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357, PubMed:23353830). The inner channel of the NPC has a different redox environment from the cytoplasm and allows the formation of interchain disulfide bonds between some nucleoporins, the significant increase of these linkages upon oxidative stress reduces the permeability of the NPC.;Polyubiquitinated by PRKN, which leads to proteasomal degradation.;RANBP2 is phosphorylated by MAPK3 Belongs to the RanBP2 E3 ligase family. Protein modification; protein sumoylation.;RNA transport;Separation of Sister Chromatids;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 2 +NX_P49795 Regulator of G-protein signaling 19 217 24636 5.43 0 Membrane;Cell junction;Nucleolus NA Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G-alpha subfamily 1 members, with the order G(i)a3 > G(i)a1 > G(o)a >> G(z)a/G(i)a2. Activity on G(z)-alpha is inhibited by phosphorylation and palmitoylation of the G-protein. Fatty acylated. Heavily palmitoylated in the cysteine string motif.;Phosphorylated, mainly on serine residues. NA G alpha (i) signalling events;G alpha (q) signalling events;G alpha (z) signalling events PE1 20 +NX_P49796 Regulator of G-protein signaling 3 1198 132336 5.9 0 Cytoplasm;Nucleus;Cell membrane NA Down-regulates signaling from heterotrimeric G-proteins by increasing the GTPase activity of the alpha subunits, thereby driving them into their inactive GDP-bound form. Down-regulates G-protein-mediated release of inositol phosphates and activation of MAP kinases. Phosphorylated by cyclic GMP-dependent protein kinase.;ISGylated. NA Axon guidance;G alpha (i) signalling events;G alpha (q) signalling events PE1 9 +NX_P49798 Regulator of G-protein signaling 4 205 23256 8.69 0 Cytoskeleton Schizophrenia Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Activity on G(z)-alpha is inhibited by phosphorylation of the G-protein. Activity on G(z)-alpha and G(i)-alpha-1 is inhibited by palmitoylation of the G-protein. Palmitoylated on Cys-2 and/or Cys-12.;Phosphorylated by cyclic GMP-dependent protein kinase. NA G alpha (i) signalling events;G alpha (q) signalling events;G alpha (z) signalling events PE1 1 +NX_P49802 Regulator of G-protein signaling 7 495 57668 8.33 0 Cytoplasm;Mitochondrion;Cell membrane;Membrane;Cytosol NA Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:10521509, PubMed:10862767). The RGS7/GNB5 dimer enhances GNAO1 GTPase activity (PubMed:10521509). May play a role in synaptic vesicle exocytosis (PubMed:12659861). Modulates the activity of potassium channels that are activated by GNAO1 in response to muscarinic acetylcholine receptor M2/CHRM2 signaling (PubMed:15897264). Phosphorylation and subsequent interaction with 14-3-3 proteins inhibits GAP activity.;Palmitoylated.;Ubiquitinated, leading to rapid proteasomal degradation. NA G alpha (i) signalling events;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding PE1 1 +NX_P49810 Presenilin-2 448 50140 4.51 8 Endoplasmic reticulum membrane;Golgi apparatus membrane Cardiomyopathy, dilated 1V;Alzheimer disease 4 Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins. The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is involved in calcium homeostasis (PubMed:16959576). Is a regulator of mitochondrion-endoplasmic reticulum membrane tethering and modulates calcium ions shuttling between ER and mitochondria (PubMed:21285369). Heterogeneous proteolytic processing generates N-terminal and C-terminal fragments.;Phosphorylated on serine residues. Belongs to the peptidase A22A family. Notch signaling pathway;Neurotrophin signaling pathway;Alzheimer's disease;EPH-ephrin mediated repulsion of cells;Nuclear signaling by ERBB4;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activated NOTCH1 Transmits Signal to the Nucleus;Regulated proteolysis of p75NTR;NOTCH2 Activation and Transmission of Signal to the Nucleus;NRIF signals cell death from the nucleus;NOTCH3 Activation and Transmission of Signal to the Nucleus;Noncanonical activation of NOTCH3;NOTCH4 Activation and Transmission of Signal to the Nucleus PE1 1 +NX_P49815 Tuberin 1807 200608 6.98 0 Membrane;Cytoplasm;Cytosol Lymphangioleiomyomatosis;Focal cortical dysplasia 2;Tuberous sclerosis 2 In complex with TSC1, this tumor suppressor inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling (PubMed:12271141, PubMed:28215400). Acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1 (PubMed:15340059). May also play a role in microtubule-mediated protein transport (By similarity). Also stimulates the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 (By similarity). Phosphorylation at Ser-1387, Ser-1418 or Ser-1420 does not affect interaction with TSC1. Phosphorylation at Ser-939 and Thr-1462 by PKB/AKT1 is induced by growth factor stimulation. Phosphorylation by AMPK activates it and leads to negatively regulates the mTORC1 complex. Phosphorylated at Ser-1798 by RPS6KA1; phosphorylation inhibits TSC2 ability to suppress mTORC1 signaling. Phosphorylated by DAPK1.;Ubiquitinated by the DCX(FBXW5) E3 ubiquitin-protein ligase complex, leading to its subsequent degradation. Ubiquitinated by MYCBP2 independently of its phosphorylation status leading to subsequent degradation; association with TSC1 protects from ubiquitination.;TSC2 is phosphorylated by DAPK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);TSC2 is phosphorylated by PRKAA1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA p53 signaling pathway;mTOR signaling pathway;Insulin signaling pathway;Macroautophagy;TP53 Regulates Metabolic Genes;Energy dependent regulation of mTOR by LKB1-AMPK;Constitutive Signaling by AKT1 E17K in Cancer;AKT phosphorylates targets in the cytosol;Inhibition of TSC complex formation by PKB;TBC/RABGAPs PE1 16 +NX_P49821 NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial 464 50817 8.51 0 Cytosol;Mitochondrion inner membrane;Mitochondrion Mitochondrial complex I deficiency, nuclear type 4 Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). NA Belongs to the complex I 51 kDa subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 11 +NX_P49840 Glycogen synthase kinase-3 alpha 483 50981 8.95 0 Cytosol NA Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), CTNNB1/beta-catenin, APC and AXIN1 (PubMed:11749387, PubMed:17478001, PubMed:19366350). Requires primed phosphorylation of the majority of its substrates (PubMed:11749387, PubMed:17478001, PubMed:19366350). Contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis (PubMed:11749387, PubMed:17478001, PubMed:19366350). Regulates glycogen metabolism in liver, but not in muscle (By similarity). May also mediate the development of insulin resistance by regulating activation of transcription factors (PubMed:10868943, PubMed:17478001). In Wnt signaling, regulates the level and transcriptional activity of nuclear CTNNB1/beta-catenin (PubMed:17229088). Facilitates amyloid precursor protein (APP) processing and the generation of APP-derived amyloid plaques found in Alzheimer disease (PubMed:12761548). May be involved in the regulation of replication in pancreatic beta-cells (By similarity). Is necessary for the establishment of neuronal polarity and axon outgrowth (By similarity). Through phosphorylation of the anti-apoptotic protein MCL1, may control cell apoptosis in response to growth factors deprivation (By similarity). Acts as a regulator of autophagy by mediating phosphorylation of KAT5/TIP60 under starvation conditions, leading to activate KAT5/TIP60 acetyltransferase activity and promote acetylation of key autophagy regulators, such as ULK1 and RUBCNL/Pacer (PubMed:30704899). Phosphorylated by AKT1 at Ser-21: upon insulin-mediated signaling, the activated PKB/AKT1 protein kinase phosphorylates and desactivates GSK3A, resulting in the dephosphorylation and activation of GYS1. Activated by phosphorylation at Tyr-279. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. GSK-3 subfamily. Chemokine signaling pathway;Dopaminergic synapse;XBP1(S) activates chaperone genes;Constitutive Signaling by AKT1 E17K in Cancer;AKT phosphorylates targets in the cytosol PE1 19 +NX_P49841 Glycogen synthase kinase-3 beta 420 46744 8.98 0 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), EIF2B, CTNNB1/beta-catenin, APC, AXIN1, DPYSL2/CRMP2, JUN, NFATC1/NFATC, MAPT/TAU and MACF1. Requires primed phosphorylation of the majority of its substrates. In skeletal muscle, contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis. May also mediate the development of insulin resistance by regulating activation of transcription factors. Regulates protein synthesis by controlling the activity of initiation factor 2B (EIF2BE/EIF2B5) in the same manner as glycogen synthase. In Wnt signaling, GSK3B forms a multimeric complex with APC, AXIN1 and CTNNB1/beta-catenin and phosphorylates the N-terminus of CTNNB1 leading to its degradation mediated by ubiquitin/proteasomes. Phosphorylates JUN at sites proximal to its DNA-binding domain, thereby reducing its affinity for DNA. Phosphorylates NFATC1/NFATC on conserved serine residues promoting NFATC1/NFATC nuclear export, shutting off NFATC1/NFATC gene regulation, and thereby opposing the action of calcineurin. Phosphorylates MAPT/TAU on 'Thr-548', decreasing significantly MAPT/TAU ability to bind and stabilize microtubules. MAPT/TAU is the principal component of neurofibrillary tangles in Alzheimer disease. Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. Phosphorylates MACF1, inhibiting its binding to microtubules which is critical for its role in bulge stem cell migration and skin wound repair. Probably regulates NF-kappa-B (NFKB1) at the transcriptional level and is required for the NF-kappa-B-mediated anti-apoptotic response to TNF-alpha (TNF/TNFA). Negatively regulates replication in pancreatic beta-cells, resulting in apoptosis, loss of beta-cells and diabetes. Through phosphorylation of the anti-apoptotic protein MCL1, may control cell apoptosis in response to growth factors deprivation. Phosphorylates MUC1 in breast cancer cells, decreasing the interaction of MUC1 with CTNNB1/beta-catenin. Is necessary for the establishment of neuronal polarity and axon outgrowth. Phosphorylates MARK2, leading to inhibit its activity. Phosphorylates SIK1 at 'Thr-182', leading to sustain its activity. Phosphorylates ZC3HAV1 which enhances its antiviral activity. Phosphorylates SNAI1, leading to its BTRC-triggered ubiquitination and proteasomal degradation. Phosphorylates SFPQ at 'Thr-687' upon T-cell activation. Phosphorylates NR1D1 st 'Ser-55' and 'Ser-59' and stabilizes it by protecting it from proteasomal degradation. Regulates the circadian clock via phosphorylation of the major clock components including ARNTL/BMAL1, CLOCK and PER2 (PubMed:19946213, PubMed:28903391). Phosphorylates CLOCK AT 'Ser-427' and targets it for proteasomal degradation (PubMed:19946213). Phosphorylates ARNTL/BMAL1 at 'Ser-17' and 'Ser-21' and primes it for ubiquitination and proteasomal degradation (PubMed:28903391). Phosphorylates OGT at 'Ser-3' or 'Ser-4' which positively regulates its activity. Phosphorylates MYCN in neuroblastoma cells which may promote its degradation (PubMed:24391509). Regulates the circadian rhythmicity of hippocampal long-term potentiation and ARNTL/BMLA1 and PER2 expression (By similarity). Acts as a regulator of autophagy by mediating phosphorylation of KAT5/TIP60 under starvation conditions, leading to activate KAT5/TIP60 acetyltransferase activity and promote acetylation of key autophagy regulators, such as ULK1 and RUBCNL/Pacer (PubMed:30704899). Mono-ADP-ribosylation by PARP10 negatively regulates kinase activity.;Phosphorylated by AKT1 and ILK1. Upon insulin-mediated signaling, the activated PKB/AKT1 protein kinase phosphorylates and desactivates GSK3B, resulting in the dephosphorylation and activation of GYS1. Activated by phosphorylation at Tyr-216 (PubMed:25169422). Inactivated by phosphorylation at Ser-9 (Probable). Phosphorylated in a circadian manner in the hippocampus (By similarity). Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. GSK-3 subfamily. ErbB signaling pathway;Chemokine signaling pathway;Cell cycle;Wnt signaling pathway;Hedgehog signaling pathway;Axon guidance;Focal adhesion;T cell receptor signaling pathway;B cell receptor signaling pathway;Neurotrophin signaling pathway;Dopaminergic synapse;Insulin signaling pathway;Melanogenesis;Alzheimer's disease;Hepatitis C;Measles;Influenza A;HTLV-I infection;Pathways in cancer;Colorectal cancer;Endometrial cancer;Prostate cancer;Basal cell carcinoma;Degradation of beta-catenin by the destruction complex;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Regulation of HSF1-mediated heat shock response;CRMPs in Sema3A signaling;Constitutive Signaling by AKT1 E17K in Cancer;Disassembly of the destruction complex and recruitment of AXIN to the membrane;AKT phosphorylates targets in the cytosol;Beta-catenin phosphorylation cascade;Misspliced GSK3beta mutants stabilize beta-catenin;S33 mutants of beta-catenin aren't phosphorylated;S37 mutants of beta-catenin aren't phosphorylated;S45 mutants of beta-catenin aren't phosphorylated;T41 mutants of beta-catenin aren't phosphorylated;APC truncation mutants have impaired AXIN binding;AXIN missense mutants destabilize the destruction complex;Truncations of AMER1 destabilize the destruction complex;B-WICH complex positively regulates rRNA expression;Regulation of RUNX2 expression and activity;Ubiquitin-dependent degradation of Cyclin D PE1 3 +NX_P49842 Serine/threonine-protein kinase 19 368 40916 9.8 0 Nucleus speckle;Nucleus NA Serine/threonine-protein kinase that acts as a key regulator of NRAS signaling by mediating phosphorylation of NRAS at 'Ser-89', thereby enhancing NRAS-binding to its downstream effectors. NA Belongs to the STK19 family. NA PE1 6 +NX_P49848 Transcription initiation factor TFIID subunit 6 677 72668 8.83 0 Nucleoplasm;Cytosol;Nucleus Alazami-Yuan syndrome TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TIIFD is multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors.;Transcriptional regulator which acts primarily as a positive regulator of transcription (PubMed:20096117, PubMed:29358700). Recruited to the promoters of a number of genes including GADD45A and CDKN1A/p21, leading to transcriptional up-regulation and subsequent induction of apoptosis (PubMed:11583621). Also up-regulates expression of other genes including GCNA/ACRC, HES1 and IFFO1 (PubMed:18628956). In contrast, down-regulates transcription of MDM2 (PubMed:11583621). Acts as a transcriptional coactivator to enhance transcription of TP53/p53-responsive genes such as DUSP1 (PubMed:20096117). Can also activate transcription and apoptosis independently of TP53 (PubMed:18628956). Drives apoptosis via the intrinsic apoptotic pathway by up-regulating apoptosis effectors such as BCL2L11/BIM and PMAIP1/NOXA (PubMed:29358700). In cells undergoing apoptosis, cleaved in a caspase-dependent manner to produce a 40 kDa product. Belongs to the TAF6 family. Basal transcription factors;Herpes simplex infection;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA polymerase II transcribes snRNA genes;Regulation of TP53 Activity through Phosphorylation PE1 7 +NX_P49862 Kallikrein-7 253 27525 8.82 0 Secreted;Nucleus membrane;Cell membrane NA May catalyze the degradation of intercellular cohesive structures in the cornified layer of the skin in the continuous shedding of cells from the skin surface. Specific for amino acid residues with aromatic side chains in the P1 position. Cleaves insulin A chain at '14-Tyr-|-Gln-15' and insulin B chain at '6-Leu-|-Cys-7', '16-Tyr-|-Leu-17', '25-Phe-|-Tyr-26' and '26-Tyr-|-Thr-27'. Could play a role in the activation of precursors to inflammatory cytokines. NA Belongs to the peptidase S1 family. Kallikrein subfamily. Degradation of the extracellular matrix PE1 19 +NX_P49863 Granzyme K 264 28882 9.48 0 Cytoplasmic granule;Secreted NA NA NA Belongs to the peptidase S1 family. Granzyme subfamily. NA PE1 5 +NX_P49888 Sulfotransferase 1E1 294 35126 6.18 0 Cytosol;Nucleus membrane NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of estradiol and estrone (PubMed:7779757, PubMed:11884392, PubMed:11006110). Is a key enzyme in estrogen homeostasis, the sulfation of estrogens leads to their inactivation. Also sulfates dehydroepiandrosterone (DHEA), pregnenolone, (24S)-hydroxycholesterol and xenobiotic compounds like ethinylestradiol, equalenin, diethyl stilbesterol and 1-naphthol at significantly lower efficency (PubMed:11006110, PubMed:19589875). Does not sulfonate cortisol, testosterone and dopamine (PubMed:7779757, PubMed:11006110). NA Belongs to the sulfotransferase 1 family. Steroid hormone biosynthesis;Sulfur metabolism;Cytosolic sulfonation of small molecules PE1 4 +NX_P49895 Type I iodothyronine deiodinase 249 28924 8.9 1 Endoplasmic reticulum membrane NA Responsible for the deiodination of T4 (3,5,3',5'-tetraiodothyronine) into T3 (3,5,3'-triiodothyronine) and of T3 into T2 (3,3'-diiodothyronine). Plays a role in providing a source of plasma T3 by deiodination of T4 in peripheral tissues such as liver and kidney. NA Belongs to the iodothyronine deiodinase family. Regulation of thyroid hormone activity PE1 1 +NX_P49901 Sperm mitochondrial-associated cysteine-rich protein 116 12767 8.49 0 Mitochondrion membrane;Cytoplasm NA Involved in sperm motility. Its absence is associated with genetic background dependent male infertility. Infertility may be due to reduced sperm motility in the female reproductive tract and inability to penetrate the oocyte zona pellucida (By similarity). NA NA NA PE1 1 +NX_P49902 Cytosolic purine 5'-nucleotidase 561 64970 5.75 0 Cytoplasm Spastic paraplegia 45, autosomal recessive May have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine nucleotides in cooperation with other nucleotidases. Preferentially hydrolyzes inosine 5'-monophosphate (IMP) and other purine nucleotides. NA Belongs to the 5'(3')-deoxyribonucleotidase family. Purine metabolism;Pyrimidine metabolism;Nicotinate and nicotinamide metabolism;Metabolic pathways;Purine catabolism;Abacavir metabolism PE1 10 +NX_P49903 Selenide, water dikinase 1 392 42911 5.65 0 Cytoplasm;Nucleoplasm;Nucleus membrane;Cell membrane NA Synthesizes selenophosphate from selenide and ATP. NA Belongs to the selenophosphate synthase 1 family. Class II subfamily. Selenocompound metabolism;Metabolic pathways PE1 10 +NX_P49908 Selenoprotein P 381 43174 8.08 0 Golgi apparatus;Nucleoplasm;Secreted NA Might be responsible for some of the extracellular antioxidant defense properties of selenium or might be involved in the transport of selenium. May supply selenium to tissues such as brain and testis. Phosphorylation sites are present in the extracellular medium. Belongs to the selenoprotein P family. Platelet degranulation PE1 5 +NX_P49910 Zinc finger protein 165 485 55771 6.74 0 Nucleus speckle;Nucleus;Cytoskeleton NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 6 +NX_P49913 Cathelicidin antimicrobial peptide 170 19301 9.48 0 Secreted NA Binds to bacterial lipopolysaccharides (LPS), has antibacterial activity. The N-terminus is blocked. Belongs to the cathelicidin family. Salivary secretion;Tuberculosis;Neutrophil degranulation;Antimicrobial peptides PE1 3 +NX_P49914 5-formyltetrahydrofolate cyclo-ligase 203 23256 7.71 0 Cytoplasm;Cytosol Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination Contributes to tetrahydrofolate metabolism. Helps regulate carbon flow through the folate-dependent one-carbon metabolic network that supplies carbon for the biosynthesis of purines, thymidine and amino acids. Catalyzes the irreversible conversion of 5-formyltetrahydrofolate (5-FTHF) to yield 5,10-methenyltetrahydrofolate. NA Belongs to the 5-formyltetrahydrofolate cyclo-ligase family. One carbon pool by folate;Metabolic pathways;Metabolism of folate and pterines PE1 15 +NX_P49915 GMP synthase [glutamine-hydrolyzing] 693 76715 6.42 0 Cytoplasm;Cytosol NA Involved in the de novo synthesis of guanine nucleotides which are not only essential for DNA and RNA synthesis, but also provide GTP, which is involved in a number of cellular processes important for cell division. NA NA Purine metabolism; GMP biosynthesis; GMP from XMP (L-Gln route): step 1/1.;Purine metabolism;Drug metabolism - other enzymes;Metabolic pathways;Purine ribonucleoside monophosphate biosynthesis PE1 3 +NX_P49916 DNA ligase 3 1009 112907 9.17 0 Nucleoplasm;Mitochondrion;Nucleus NA Is targeted to mitochondria, where it functions as DNA ligase in mitochondrial base-excision DNA repair (PubMed:10207110, PubMed:24674627).;Functions as heterodimer with DNA-repair protein XRCC1 in the nucleus and can correct defective DNA strand-break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents. NA Belongs to the ATP-dependent DNA ligase family. Base excision repair;Resolution of AP sites via the single-nucleotide replacement pathway;APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through MMEJ (alt-NHEJ);Gap-filling DNA repair synthesis and ligation in GG-NER PE1 17 +NX_P49917 DNA ligase 4 911 103971 8.17 0 Nucleoplasm;Cytosol;Nucleus LIG4 syndrome;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation Efficiently joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends. NA Belongs to the ATP-dependent DNA ligase family. Non-homologous end-joining;2-LTR circle formation;Nonhomologous End-Joining (NHEJ) PE1 13 +NX_P49918 Cyclin-dependent kinase inhibitor 1C 316 32177 5.39 0 Nucleoplasm;Cytosol;Nucleus Beckwith-Wiedemann syndrome;Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May play a role in maintenance of the non-proliferative state throughout life. NA Belongs to the CDI family. Cell cycle;Cyclin D associated events in G1 PE1 11 +NX_P49959 Double-strand break repair protein MRE11 708 80593 5.61 0 Nucleoplasm;Telomere;Nucleus;Chromosome Ataxia-telangiectasia-like disorder 1 Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:9651580, PubMed:9590181, PubMed:9705271, PubMed:11741547, PubMed:29670289). The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11 (PubMed:9651580, PubMed:9590181, PubMed:9705271, PubMed:11741547, PubMed:29670289). RAD50 may be required to bind DNA ends and hold them in close proximity (PubMed:9651580, PubMed:9590181, PubMed:9705271, PubMed:11741547, PubMed:29670289). This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11 to prevent nucleolytic degradation past a given point (PubMed:9651580, PubMed:9590181, PubMed:9705271, PubMed:11741547, PubMed:29670289, PubMed:30612738). The complex may also be required for DNA damage signaling via activation of the ATM kinase (PubMed:15064416). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888). Ubiquitinated following DNA damage. Ubiquitination triggers interaction with UBQLN4, leading to MRE11 removal from chromatin and degradation by the proteasome. Belongs to the MRE11/RAD32 family. Homologous recombination;Non-homologous end-joining;Cytosolic sensors of pathogen-associated DNA;DNA Damage/Telomere Stress Induced Senescence;Meiotic recombination;G2/M DNA damage checkpoint;IRF3-mediated induction of type I IFN;Sensing of DNA Double Strand Breaks;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;HDR through Single Strand Annealing (SSA);HDR through MMEJ (alt-NHEJ);HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Nonhomologous End-Joining (NHEJ);Regulation of TP53 Activity through Phosphorylation PE1 11 +NX_P49961 Ectonucleoside triphosphate diphosphohydrolase 1 510 57965 5.93 2 Membrane;Cytoskeleton Spastic paraplegia 64, autosomal recessive In the nervous system, could hydrolyze ATP and other nucleotides to regulate purinergic neurotransmission. Could also be implicated in the prevention of platelet aggregation by hydrolyzing platelet-activating ADP to AMP. Hydrolyzes ATP and ADP equally well. The N-terminus is blocked.;Palmitoylated in the N-terminal part. Belongs to the GDA1/CD39 NTPase family. Purine metabolism;Pyrimidine metabolism;Phosphate bond hydrolysis by NTPDase proteins PE1 10 +NX_P50052 Type-2 angiotensin II receptor 363 41184 9.31 7 Cell membrane NA Receptor for angiotensin II. Cooperates with MTUS1 to inhibit ERK2 activation and cell proliferation. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Renin-angiotensin system;G alpha (i) signalling events;Peptide ligand-binding receptors PE1 X +NX_P50053 Ketohexokinase 298 32523 5.91 0 Cytosol Fructosuria Catalyzes the phosphorylation of the ketose sugar fructose to fructose-1-phosphate. NA Belongs to the carbohydrate kinase PfkB family. Carbohydrate metabolism; fructose metabolism.;Fructose and mannose metabolism;Metabolic pathways;Fructose catabolism;Essential fructosuria PE1 2 +NX_P50120 Retinol-binding protein 2 134 15707 5.27 0 Golgi apparatus;Cytoplasm NA Intracellular transport of retinol. NA Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. Vitamin digestion and absorption;Retinoid metabolism and transport PE1 3 +NX_P50135 Histamine N-methyltransferase 292 33295 5.18 0 Nucleoplasm;Cytosol;Cytoplasm;Centrosome Mental retardation, autosomal recessive 51 Inactivates histamine by N-methylation. Plays an important role in degrading histamine and in regulating the airway response to histamine. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. HNMT family. Histidine metabolism;Histidine catabolism;Metabolism of ingested SeMet, Sec, MeSec into H2Se PE1 2 +NX_P50148 Guanine nucleotide-binding protein G(q) subunit alpha 359 42142 5.48 0 Nucleus speckle;Cell membrane;Nucleus membrane;Membrane;Cytosol;Nucleus Sturge-Weber syndrome;Capillary malformations, congenital Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity. Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity). (Microbial infection) Deamidated at Gln-209 by Photorhabdus asymbiotica toxin PAU_02230, blocking GTP hydrolysis of heterotrimeric GNAQ or GNA11 and G-alphai (GNAI1, GNAI2 or GNAI3) proteins, thereby activating RhoA. Belongs to the G-alpha family. G(q) subfamily. Calcium signaling pathway;Vascular smooth muscle contraction;Gap junction;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;Dopaminergic synapse;Long-term depression;GnRH signaling pathway;Melanogenesis;Endocrine and other factor-regulated calcium reabsorption;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Alzheimer's disease;Huntington's disease;Chagas disease (American trypanosomiasis);African trypanosomiasis;Amoebiasis;G alpha (q) signalling events;ADP signalling through P2Y purinoceptor 1;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion;Acetylcholine regulates insulin secretion PE1 9 +NX_P50150 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4 75 8389 6.55 0 Cell membrane NA Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. NA Belongs to the G protein gamma family. Chemokine signaling pathway;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;G alpha (i) signalling events;G alpha (q) signalling events;G alpha (s) signalling events;G beta:gamma signalling through PI3Kgamma;G alpha (12/13) signalling events;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G-protein activation;ADP signalling through P2Y purinoceptor 12;Prostacyclin signalling through prostacyclin receptor;Adrenaline,noradrenaline inhibits insulin secretion;Ca2+ pathway;G beta:gamma signalling through PLC beta;ADP signalling through P2Y purinoceptor 1;G alpha (z) signalling events;Glucagon-type ligand receptors;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Presynaptic function of Kainate receptors;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling;G beta:gamma signalling through BTK;G beta:gamma signalling through CDC42 PE1 1 +NX_P50151 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10 68 7205 7.71 0 Cell membrane NA Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. Interacts with beta-1 and beta-2, but not with beta-3. NA Belongs to the G protein gamma family. Chemokine signaling pathway;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;G alpha (i) signalling events;G alpha (q) signalling events;G alpha (s) signalling events;G beta:gamma signalling through PI3Kgamma;G alpha (12/13) signalling events;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G-protein activation;ADP signalling through P2Y purinoceptor 12;Prostacyclin signalling through prostacyclin receptor;Adrenaline,noradrenaline inhibits insulin secretion;Ca2+ pathway;G beta:gamma signalling through PLC beta;ADP signalling through P2Y purinoceptor 1;G alpha (z) signalling events;Glucagon-type ligand receptors;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Presynaptic function of Kainate receptors;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling;G beta:gamma signalling through BTK;G beta:gamma signalling through CDC42 PE1 9 +NX_P50213 Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial 366 39592 6.46 0 Mitochondrion NA Catalytic subunit of the enzyme which catalyzes the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers. NA Belongs to the isocitrate and isopropylmalate dehydrogenases family. Citrate cycle (TCA cycle);Metabolic pathways;Citric acid cycle (TCA cycle) PE1 15 +NX_P50219 Motor neuron and pancreas homeobox protein 1 401 40569 7.27 0 Nucleoplasm;Nucleolus;Nucleus;Cytosol Currarino syndrome Putative transcription factor involved in pancreas development and function. NA NA Maturity onset diabetes of the young PE1 7 +NX_P50221 Homeobox protein MOX-1 254 27997 7.79 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton Klippel-Feil syndrome 2, autosomal recessive Mesodermal transcription factor that plays a key role in somitogenesis and is specifically required for sclerotome development. Required for maintenance of the sclerotome polarity and formation of the cranio-cervical joints (PubMed:23290072, PubMed:24073994). Binds specifically to the promoter of target genes and regulates their expression. Activates expression of NKX3-2 in the sclerotome. Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independent manner. Required for hematopoietic stem cell (HSCs) induction via its role in somitogenesis: specification of HSCs occurs via the deployment of a specific endothelial precursor population, which arises within a sub-compartment of the somite named endotome. NA NA NA PE1 17 +NX_P50222 Homeobox protein MOX-2 304 33594 7.87 0 Nucleus speckle;Nucleus NA Mesodermal transcription factor that plays a key role in somitogenesis and is required for sclerotome development (By similarity). Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independent manner (PubMed:22206000). May have a regulatory role when quiescent vascular smooth muscle cells reenter the cell cycle. NA NA NA PE1 7 +NX_P50225 Sulfotransferase 1A1 295 34165 6.16 0 Cytoplasm NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of catecholamines, phenolic drugs and neurotransmitters. Has also estrogen sulfotransferase activity. Responsible for the sulfonation and activation of minoxidil. Is Mediates the metabolic activation of carcinogenic N-hydroxyarylamines to DNA binding products and could so participate as modulating factor of cancer risk. NA Belongs to the sulfotransferase 1 family. Sulfur metabolism;Cytosolic sulfonation of small molecules PE1 16 +NX_P50226 Sulfotransferase 1A2 295 34310 7.75 0 Cytoplasm NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of catecholamines, phenolic drugs and neurotransmitters. Is also responsible for the sulfonation and activation of minoxidil. Mediates the metabolic activation of carcinogenic N-hydroxyarylamines to DNA binding products and could so participate as modulating factor of cancer risk. NA Belongs to the sulfotransferase 1 family. Sulfur metabolism;Cytosolic sulfonation of small molecules PE1 16 +NX_P50238 Cysteine-rich protein 1 77 8533 9.05 0 Cytosol;Nucleus speckle;Centrosome;Cell membrane NA Seems to have a role in zinc absorption and may function as an intracellular zinc transport protein. NA NA NA PE1 14 +NX_P50281 Matrix metalloproteinase-14 582 65894 7.63 1 Cytoplasm;Membrane;Melanosome;Cytosol;Cytoskeleton Winchester syndrome Endopeptidase that degrades various components of the extracellular matrix such as collagen. Activates progelatinase A. Essential for pericellular collagenolysis and modeling of skeletal and extraskeletal connective tissues during development (By similarity). May be involved in actin cytoskeleton reorganization by cleaving PTK7 (PubMed:20837484). Acts as a positive regulator of cell growth and migration via activation of MMP15. Involved in the formation of the fibrovascular tissues in association with pro-MMP2 (PubMed:12714657). Cleaves ADGRB1 to release vasculostatin-40 which inhibits angiogenesis (PubMed:22330140). Tyrosine phosphorylated by PKDCC/VLK.;The precursor is cleaved by a furin endopeptidase.;MMP14 is phosphorylated by FGFR4 Belongs to the peptidase M10A family. GnRH signaling pathway;Degradation of the extracellular matrix;Collagen degradation;Activation of Matrix Metalloproteinases PE1 14 +NX_P50336 Protoporphyrinogen oxidase 477 50765 8.43 0 Golgi apparatus;Mitochondrion inner membrane;Cytoplasmic vesicle Variegate porphyria Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX. NA Belongs to the protoporphyrinogen oxidase family. Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; protoporphyrin-IX from protoporphyrinogen-IX: step 1/1.;Porphyrin and chlorophyll metabolism;Metabolic pathways;Heme biosynthesis PE1 1 +NX_P50391 Neuropeptide Y receptor type 4 375 42195 8.46 7 Cell membrane NA Receptor for neuropeptide Y and peptide YY. The rank order of affinity of this receptor for pancreatic polypeptides is PP, PP (2-36) and [Ile-31, Gln-34] PP > [Pro-34] PYY > PYY and [Leu-31, Pro-34] NPY > NPY > PYY (3-36) and NPY (2-36) > PP (13-36) > PP (31-36) > NPY free acid. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors PE2 10 +NX_P50395 Rab GDP dissociation inhibitor beta 445 50663 6.11 0 Membrane;Cytoplasm NA Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. NA Belongs to the Rab GDI family. Rho GTPase cycle;Neutrophil degranulation;RAB GEFs exchange GTP for GDP on RABs PE1 10 +NX_P50402 Emerin 254 28994 5.29 1 Nucleus outer membrane;Nucleus membrane;Endoplasmic reticulum;Nucleus inner membrane;Nucleus envelope Emery-Dreifuss muscular dystrophy 1, X-linked Stabilizes and promotes the formation of a nuclear actin cortical network. Stimulates actin polymerization in vitro by binding and stabilizing the pointed end of growing filaments. Inhibits beta-catenin activity by preventing its accumulation in the nucleus. Acts by influencing the nuclear accumulation of beta-catenin through a CRM1-dependent export pathway. Links centrosomes to the nuclear envelope via a microtubule association. EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. The association of viral DNA with chromatin requires the presence of BAF and EMD. Required for proper localization of non-farnesylated prelamin-A/C. Found in four different phosphorylated forms, three of which appear to be associated with the cell cycle. NA Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Initiation of Nuclear Envelope Reformation;Depolymerisation of the Nuclear Lamina;Nuclear Envelope Breakdown;Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 X +NX_P50406 5-hydroxytryptamine receptor 6 440 46954 9.27 7 Cell membrane NA This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase. It has a high affinity for tricyclic psychotropic drugs (By similarity). Controls pyramidal neurons migration during corticogenesis, through the regulation of CDK5 activity (By similarity). Is an activator of TOR signaling (PubMed:23027611). NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Serotonin receptors PE1 1 +NX_P50416 Carnitine O-palmitoyltransferase 1, liver isoform 773 88368 8.85 2 Mitochondrion outer membrane;Mitochondrion Carnitine palmitoyltransferase 1A deficiency Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism. NA Belongs to the carnitine/choline acetyltransferase family. Lipid metabolism; fatty acid beta-oxidation.;Fatty acid metabolism;PPAR signaling pathway;Adipocytokine signaling pathway;PPARA activates gene expression;RORA activates gene expression;Signaling by Retinoic Acid;Import of palmitoyl-CoA into the mitochondrial matrix PE1 11 +NX_P50440 Glycine amidinotransferase, mitochondrial 423 48455 8.26 0 Cytoplasm;Mitochondrion inner membrane;Mitochondrion Cerebral creatine deficiency syndrome 3 Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis. NA Belongs to the amidinotransferase family. Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 1/2.;Glycine, serine and threonine metabolism;Arginine and proline metabolism;Metabolic pathways;Creatine metabolism PE1 15 +NX_P50443 Sulfate transporter 739 81662 8.67 8 Cytoplasmic vesicle;Cell membrane Atelosteogenesis 2;Multiple epiphyseal dysplasia 4;Achondrogenesis 1B;Diastrophic dysplasia Sulfate transporter. May play a role in endochondral bone formation. NA Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. Transport and synthesis of PAPS;Multifunctional anion exchangers;Defective SLC26A2 causes chondrodysplasias PE1 5 +NX_P50452 Serpin B8 374 42767 5.41 0 Nucleoplasm;Cytosol;Cytoplasm Peeling skin syndrome 5 Has an important role in epithelial desmosome-mediated cell-cell adhesion. NA Belongs to the serpin family. Ov-serpin subfamily. Dissolution of Fibrin Clot PE1 18 +NX_P50453 Serpin B9 376 42404 5.61 0 Nucleoplasm;Cytosol;Cytoplasm NA Granzyme B inhibitor. NA Belongs to the serpin family. Ov-serpin subfamily. Amoebiasis PE1 6 +NX_P50454 Serpin H1 418 46441 8.75 0 Endoplasmic reticulum;Endoplasmic reticulum lumen Osteogenesis imperfecta 10 Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen. NA Belongs to the serpin family. Collagen biosynthesis and modifying enzymes PE1 11 +NX_P50458 LIM/homeobox protein Lhx2 406 44373 8.81 0 Nucleoplasm;Nucleus NA Acts as a transcriptional activator. Stimulates the promoter of the alpha-glycoprotein gene. Transcriptional regulatory protein involved in the control of cell differentiation in developing lymphoid and neural cell types (By similarity). NA NA Regulation of expression of SLITs and ROBOs PE1 9 +NX_P50461 Cysteine and glycine-rich protein 3 194 20969 8.89 0 Cytoplasm;Sarcomere;Z line;Nucleus;Cytoskeleton Cardiomyopathy, familial hypertrophic 12;Cardiomyopathy, dilated 1M May play a role in early sarcomere organization. Overexpression in myotubes negatively regulates myotube differentiation. By association with isoform 1 and thus changing the CSRP3 isoform 1:CFL2 stoichiometry is proposed to down-regulate CFL2-mediated F-actin depolymerization.;Positive regulator of myogenesis. Acts as cofactor for myogenic bHLH transcription factors such as MYOD1, and probably MYOG and MYF6. Enhances the DNA-binding activity of the MYOD1:TCF3 isoform E47 complex and may promote formation of a functional MYOD1:TCF3 isoform E47:MEF2A complex involved in myogenesis (By similarity). Plays a crucial and specific role in the organization of cytosolic structures in cardiomyocytes. Could play a role in mechanical stretch sensing. May be a scaffold protein that promotes the assembly of interacting proteins at Z-line structures. It is essential for calcineurin anchorage to the Z line. Required for stress-induced calcineurin-NFAT activation (By similarity). The role in regulation of cytoskeleton dynamics by association with CFL2 is reported conflictingly: Shown to enhance CFL2-mediated F-actin depolymerization dependent on the CSRP3:CFL2 molecular ratio, and also shown to reduce the ability of CLF1 and CFL2 to enhance actin depolymerization (PubMed:19752190, PubMed:24934443). Proposed to contribute to the maintenance of muscle cell integerity through an actin-based mechanism. Can directly bind to actin filaments, cross-link actin filaments into bundles without polarity selectivity and protect them from dilution- and cofilin-mediated depolymerization; the function seems to involve its self-association (PubMed:24934443). In vitro can inhibit PKC/PRKCA activity (PubMed:27353086). Proposed to be involved in cardiac stress signaling by down-regulating excessive PKC/PRKCA signaling (By similarity). Phosphorylated by PKC/PRKCA. NA NA PE1 11 +NX_P50479 PDZ and LIM domain protein 4 330 35398 8.07 0 Cytoplasm;Dendritic spine;Synaptosome;Lamellipodium;Recycling endosome membrane;Early endosome membrane;Cytosol;Perinuclear region;Nucleus;Cytoskeleton NA Suppresses SRC activation by recognizing and binding to active SRC and facilitating PTPN13-mediated dephosphorylation of SRC 'Tyr-419' leading to its inactivation. Inactivated SRC dissociates from this protein allowing the initiation of a new SRC inactivation cycle (PubMed:19307596). Involved in reorganization of the actin cytoskeleton (PubMed:21636573). In nonmuscle cells, binds to ACTN1 (alpha-actinin-1), increases the affinity of ACTN1 to F-actin (filamentous actin), and promotes formation of actin stress fibers. Involved in regulation of the synaptic AMPA receptor transport in dendritic spines of hippocampal pyramidal neurons directing the receptors toward an insertion at the postsynaptic membrane. Links endosomal surface-internalized GRIA1-containing AMPA receptors to the alpha-actinin/actin cytoskeleton. Increases AMPA receptor-mediated excitatory postsynaptic currents in neurons (By similarity).;Involved in reorganization of the actin cytoskeleton and in regulation of cell migration. In response to oxidative stress, binds to NQO1, which stabilizes it and protects it from ubiquitin-independent degradation by the core 20S proteasome. Stabilized protein is able to heterodimerize with isoform 1 changing the subcellular location of it from cytoskeleton and nuclei to cytosol, leading to loss of isoforms 1 ability to induce formation of actin stress fibers. Counteracts the effects produced by isoform 1 on organization of actin cytoskeleton and cell motility to fine-tune actin cytoskeleton rearrangement and to attenuate cell migration. Phosphorylated on tyrosine residue(s). Can be dephosphorylated by PTPN13. NA NA PE1 5 +NX_P50502 Hsc70-interacting protein 369 41332 5.18 0 Cytoplasm NA One HIP oligomer binds the ATPase domains of at least two HSC70 molecules dependent on activation of the HSC70 ATPase by HSP40. Stabilizes the ADP state of HSC70 that has a high affinity for substrate protein. Through its own chaperone activity, it may contribute to the interaction of HSC70 with various target proteins (By similarity). NA Belongs to the FAM10 family. Regulation of HSF1-mediated heat shock response PE1 22 +NX_P50539 Max-interacting protein 1 228 26062 6.57 0 Nucleus;Nucleoplasm;Cytosol;Nucleolus Prostate cancer Transcriptional repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MXI1 thus antagonizes MYC transcriptional activity by competing for MAX. NA NA NA PE1 10 +NX_P50542 Peroxisomal targeting signal 1 receptor 639 70865 4.43 0 Golgi apparatus;Cytoplasm;Cytosol;Peroxisome membrane Peroxisome biogenesis disorder 2A;Peroxisome biogenesis disorder 2B;Rhizomelic chondrodysplasia punctata 5 Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Monoubiquitination at Cys-11 is required for proper export from peroxisomes and recycling. Belongs to the peroxisomal targeting signal receptor family. Peroxisome;E3 ubiquitin ligases ubiquitinate target proteins;Peroxisomal protein import PE1 12 +NX_P50548 ETS domain-containing transcription factor ERF 548 58703 6.85 0 Nucleoplasm;Nucleus Chitayat syndrome;Craniosynostosis 4 Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioallantoic attachment (By similarity). May be important for regulating trophoblast stem cell differentiation (By similarity). Phosphorylated by multiple kinases including MAPK1/ERK2 at THR-526. Phosphorylation regulates the activity of ERF. Belongs to the ETS family. Oncogene Induced Senescence PE1 19 +NX_P50549 ETS translocation variant 1 477 55131 5.7 0 Nucleoplasm;Nucleus Ewing sarcoma Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'. Sumoylated.;Phosphorylated at Ser-191 and Ser-216 by RPS6KA1 and RPS6KA5; phosphorylation activates transcriptional activity. Belongs to the ETS family. NA PE1 7 +NX_P50552 Vasodilator-stimulated phosphoprotein 380 39830 9.05 0 Cytoplasm;Filopodium membrane;Cell membrane;Cell junction;Focal adhesion;Lamellipodium membrane;Tight junction;Cytoskeleton NA Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance, lamellipodial and filopodial dynamics, platelet activation and cell migration. VASP promotes actin filament elongation. It protects the barbed end of growing actin filaments against capping and increases the rate of actin polymerization in the presence of capping protein. VASP stimulates actin filament elongation by promoting the transfer of profilin-bound actin monomers onto the barbed end of growing actin filaments. Plays a role in actin-based mobility of Listeria monocytogenes in host cells. Regulates actin dynamics in platelets and plays an important role in regulating platelet aggregation. Major substrate for cAMP-dependent (PKA) and cGMP-dependent protein kinase (PKG) in platelets. The preferred site for PKA is Ser-157, the preferred site for PKG/PRKG1, Ser-239. In ADP-activated platelets, phosphorylation by PKA or PKG on Ser-157 leads to fibrinogen receptor inhibition. Phosphorylation on Thr-278 requires prior phosphorylation on Ser-157 and Ser-239. In response to phorbol ester (PMA) stimulation, phosphorylated by PKC/PRKCA. In response to thrombin, phosphorylated by both PKC and ROCK1. Phosphorylation at Thr-278 by AMPK does not require prior phosphorylation at Ser-157 or Ser-239. Phosphorylation at Ser-157 by PKA is required for localization to the tight junctions in epithelial cells. Phosphorylation modulates F-actin binding, actin filament elongation and platelet activation. Phosphorylation at Ser-322 by AMPK also alters actin filament binding. Carbon monoxide (CO) promotes phosphorylation at Ser-157, while nitric oxide (NO) promotes phosphorylation at Ser-157, but also at Ser-239. Response to NO and CO is blunted in platelets from diabetic patients, and VASP is not phosphorylated efficiently at Ser-157 and Ser-239. Belongs to the Ena/VASP family. Focal adhesion;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Generation of second messenger molecules;Signaling by ROBO receptors;Cell-extracellular matrix interactions PE1 19 +NX_P50553 Achaete-scute homolog 1 236 25454 8.93 0 Nucleoplasm;Cytosol;Nucleus NA Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways. Directly binds the E box motif (5'-CANNTG-3') on promoters and promotes transcription of neuronal genes. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Plays a role at early stages of development of specific neural lineages in most regions of the CNS, and of several lineages in the PNS. Essential for the generation of olfactory and autonomic neurons. Acts synergistically with FOXN4 to specify the identity of V2b neurons rather than V2a from bipotential p2 progenitors during spinal cord neurogenesis, probably through DLL4-NOTCH signaling activation. NA NA NA PE1 12 +NX_P50570 Dynamin-2 870 98064 7.04 0 Cytoplasm;Golgi apparatus;Phagosome membrane;Cell junction;Clathrin-coated pit;Phagocytic cup;Postsynaptic density;Synapse;Cytosol;Midbody;Cytoskeleton Charcot-Marie-Tooth disease 2M;Myopathy, centronuclear, 1;Lethal congenital contracture syndrome 5;Charcot-Marie-Tooth disease, dominant, intermediate type, B Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Plays an important role in vesicular trafficking processes, in particular endocytosis. Involved in cytokinesis (PubMed:12498685). Regulates maturation of apoptotic cell corpse-containing phagosomes by recruiting PIK3C3 to the phagosome membrane (By similarity). Phosphorylation at Ser-764 by CDK1 is greatly increased upon mitotic entry. It regulates cytokinesis downstream of calcineurin, and does not affect clathrin-mediated endocytosis. Dephosphorylated by calcineurin/PP2 (By similarity). Phosphorylated on tyrosine residues after activation of SRC (By similarity).;DNM2 is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. Endocytosis;Fc gamma R-mediated phagocytosis;Synaptic vesicle cycle;Endocrine and other factor-regulated calcium reabsorption;Bacterial invasion of epithelial cells;MHC class II antigen presentation;Toll Like Receptor 4 (TLR4) Cascade;Golgi Associated Vesicle Biogenesis;Retrograde neurotrophin signalling;Lysosome Vesicle Biogenesis;Recycling pathway of L1;Gap junction degradation;NOSTRIN mediated eNOS trafficking;Formation of annular gap junctions;Clathrin-mediated endocytosis PE1 19 +NX_P50579 Methionine aminopeptidase 2 478 52892 5.57 0 Cytoplasm;Cytosol;Cell membrane NA Protects eukaryotic initiation factor EIF2S1 from translation-inhibiting phosphorylation by inhibitory kinases such as EIF2AK2/PKR and EIF2AK1/HCR. Plays a critical role in the regulation of protein synthesis.;Cotranslationally removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met-Ala-, Cys, Gly, Pro, Ser, Thr, or Val). The catalytic activity of human METAP2 toward Met-Val peptides is consistently two orders of magnitude higher than that of METAP1, suggesting that it is responsible for processing proteins containing N-terminal Met-Val and Met-Thr sequences in vivo. Contains approximately 12 O-linked N-acetylglucosamine (GlcNAc) residues. O-glycosylation is required for EIF2S1 binding. Belongs to the peptidase M24A family. Methionine aminopeptidase eukaryotic type 2 subfamily. Inactivation, recovery and regulation of the phototransduction cascade PE1 12 +NX_P50583 Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical] 147 16829 5.23 0 Nucleoplasm NA Asymmetrically hydrolyzes Ap4A to yield AMP and ATP. Plays a major role in maintaining homeostasis. NA Belongs to the Nudix hydrolase family. Purine metabolism;Pyrimidine metabolism;Detoxification of Reactive Oxygen Species PE1 9 +NX_P50591 Tumor necrosis factor ligand superfamily member 10 281 32509 7.01 1 Secreted;Cell membrane;Cytoskeleton NA Cytokine that binds to TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and possibly also to TNFRSF11B/OPG (PubMed:26457518, PubMed:10549288). Induces apoptosis. Its activity may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and TNFRSF11B/OPG that cannot induce apoptosis. Tyrosine phosphorylated by PKDCC/VLK. Belongs to the tumor necrosis factor family. Cytokine-cytokine receptor interaction;Apoptosis;Natural killer cell mediated cytotoxicity;Measles;Influenza A;Caspase activation via Death Receptors in the presence of ligand;Regulation by c-FLIP;RIPK1-mediated regulated necrosis;CASP8 activity is inhibited;Dimerization of procaspase-8;TRAIL signaling PE1 3 +NX_P50607 Tubby protein homolog 506 55651 8.88 0 Cytoplasm;Cell membrane;Centriolar satellite;Secreted;Nucleolus;Nucleus Retinal dystrophy and obesity Functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to membranes containing phosphatidylinositol 4,5-bisphosphate. Can bind DNA (in vitro). May contribute to the regulation of transcription in the nucleus. Could be involved in the hypothalamic regulation of body weight (By similarity). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages. TUB is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255) Belongs to the TUB family. NA PE1 11 +NX_P50613 Cyclin-dependent kinase 7 346 39038 8.66 0 Cytoplasm;Perinuclear region;Nucleus NA Serine/threonine kinase involved in cell cycle control and in RNA polymerase II-mediated RNA transcription. Cyclin-dependent kinases (CDKs) are activated by the binding to a cyclin and mediate the progression through the cell cycle. Each different complex controls a specific transition between 2 subsequent phases in the cell cycle. Required for both activation and complex formation of CDK1/cyclin-B during G2-M transition, and for activation of CDK2/cyclins during G1-S transition (but not complex formation). CDK7 is the catalytic subunit of the CDK-activating kinase (CAK) complex. Phosphorylates SPT5/SUPT5H, SF1/NR5A1, POLR2A, p53/TP53, CDK1, CDK2, CDK4, CDK6 and CDK11B/CDK11. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation, thus regulating cell cycle progression. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Phosphorylation of POLR2A in complex with DNA promotes transcription initiation by triggering dissociation from DNA. Its expression and activity are constant throughout the cell cycle. Upon DNA damage, triggers p53/TP53 activation by phosphorylation, but is inactivated in turn by p53/TP53; this feedback loop may lead to an arrest of the cell cycle and of the transcription, helping in cell recovery, or to apoptosis. Required for DNA-bound peptides-mediated transcription and cellular growth inhibition. Phosphorylation of Ser-164 during mitosis inactivates the enzyme. Phosphorylation of Thr-170 is required for activity. Phosphorylated at Ser-164 and Thr-170 by CDK2.;CDK7 is phosphorylated by PRKCB Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. Basal transcription factors;Nucleotide excision repair;Cell cycle;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Tat-mediated elongation of the HIV-1 transcript;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;Cyclin E associated events during G1/S transition;Cyclin A/B1/B2 associated events during G2/M transition;Cyclin A:Cdk2-associated events at S phase entry;Cyclin D associated events in G1;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Formation of Incision Complex in GG-NER;RNA polymerase II transcribes snRNA genes;TP53 Regulates Transcription of DNA Repair Genes;RUNX1 regulates transcription of genes involved in differentiation of HSCs PE1 5 +NX_P50616 Protein Tob1 345 38155 6.45 0 Nucleoplasm;Cytoplasm;Nucleus;Cytoplasmic vesicle NA Anti-proliferative protein; the function is mediated by association with deadenylase subunits of the CCR4-NOT complex (PubMed:8632892, PubMed:23236473). Mediates CPEB3-accelerated mRNA deadenylation by binding to CPEB3 and recruiting CNOT7 which leads to target mRNA deadenylation and decay (PubMed:21336257). Phosphorylated on Ser and Thr residues. Belongs to the BTG family. RNA degradation PE1 17 +NX_P50747 Biotin--protein ligase 726 80760 5.4 0 Cytoplasm;Cytosol;Mitochondrion Holocarboxylase synthetase deficiency Post-translational modification of specific protein by attachment of biotin. Acts on various carboxylases such as acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase. NA Belongs to the biotin--protein ligase family. Biotin metabolism;Metabolic pathways;Biotin transport and metabolism;Defective HLCS causes multiple carboxylase deficiency PE1 21 +NX_P50748 Kinetochore-associated protein 1 2209 250749 5.67 0 Kinetochore;Cytoplasm;Cell membrane;Cytosol;Spindle;Nucleus NA Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores (PubMed:11146660, PubMed:11590237, PubMed:15824131). Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex. NA NA Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 12 +NX_P50749 Ras association domain-containing protein 2 326 37790 8.93 0 Kinetochore;Golgi apparatus;Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Potential tumor suppressor. Acts as a KRAS-specific effector protein. May promote apoptosis and cell cycle arrest. Stabilizes STK3/MST2 by protecting it from proteasomal degradation. Phosphorylated by STK3/MST2 and STK4/MST1. NA NA PE1 20 +NX_P50750 Cyclin-dependent kinase 9 372 42778 8.97 0 Cytoplasm;Nucleoplasm;PML body;Cytosol;Nucleus NA Protein kinase involved in the regulation of transcription. Member of the cyclin-dependent kinase pair (CDK9/cyclin-T) complex, also called positive transcription elongation factor b (P-TEFb), which facilitates the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II) POLR2A, SUPT5H and RDBP. This complex is inactive when in the 7SK snRNP complex form. Phosphorylates EP300, MYOD1, RPB1/POLR2A and AR and the negative elongation factors DSIF and NELF. Regulates cytokine inducible transcription networks by facilitating promoter recognition of target transcription factors (e.g. TNF-inducible RELA/p65 activation and IL-6-inducible STAT3 signaling). Promotes RNA synthesis in genetic programs for cell growth, differentiation and viral pathogenesis. P-TEFb is also involved in cotranscriptional histone modification, mRNA processing and mRNA export. Modulates a complex network of chromatin modifications including histone H2B monoubiquitination (H2Bub1), H3 lysine 4 trimethylation (H3K4me3) and H3K36me3; integrates phosphorylation during transcription with chromatin modifications to control co-transcriptional histone mRNA processing. The CDK9/cyclin-K complex has also a kinase activity towards CTD of RNAP II and can substitute for CDK9/cyclin-T P-TEFb in vitro. Replication stress response protein; the CDK9/cyclin-K complex is required for genome integrity maintenance, by promoting cell cycle recovery from replication arrest and limiting single-stranded DNA amount in response to replication stress, thus reducing the breakdown of stalled replication forks and avoiding DNA damage. In addition, probable function in DNA repair of isoform 2 via interaction with KU70/XRCC6. Promotes cardiac myocyte enlargement. RPB1/POLR2A phosphorylation on 'Ser-2' in CTD activates transcription. AR phosphorylation modulates AR transcription factor promoter selectivity and cell growth. DSIF and NELF phosphorylation promotes transcription by inhibiting their negative effect. The phosphorylation of MYOD1 enhances its transcriptional activity and thus promotes muscle differentiation. N6-acetylation of Lys-44 by CBP/p300 promotes kinase activity, whereas acetylation of both Lys-44 and Lys-48 mediated by PCAF/KAT2B and GCN5/KAT2A reduces kinase activity. The acetylated form associates with PML bodies in the nuclear matrix and with the transcriptionally silent HIV-1 genome; deacetylated upon transcription stimulation.;Polyubiquitinated and thus activated by UBR5. This ubiquitination is promoted by TFIIS/TCEA1 and favors 'Ser-2' phosphorylation of RPB1/POLR2A CTD.;Dephosphorylation of Thr-186 by PPM1A and PPM1B blocks CDK9 activity and may lead to CDK9 proteasomal degradation. However, PPP1CA-mediated Thr-186 dephosphorylation is required to release P-TEFb from its inactive P-TEFb/7SK snRNP complex. Dephosphorylation of C-terminus Thr and Ser residues by protein phosphatase-1 (PP1) triggers CDK9 activity, contributing to the activation of HIV-1 transcription.;Autophosphorylation at Thr-186, Ser-347, Thr-350, Ser-353, Thr-354 and Ser-357 triggers kinase activity by promoting cyclin and substrate binding (e.g. HIV TAT) upon conformational changes. Thr-186 phosphorylation requires the calcium Ca(2+) signaling pathway, including CaMK1D and calmodulin. This inhibition is relieved by Thr-29 dephosphorylation. However, phosphorylation at Thr-29 is inhibitory within the HIV transcription initiation complex. Phosphorylation at Ser-175 inhibits kinase activity. Can be phosphorylated on either Thr-362 or Thr-363 but not on both simultaneously (PubMed:18566585). Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Formation of RNA Pol II elongation complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;Interactions of Tat with host cellular proteins;RNA polymerase II transcribes snRNA genes;TP53 Regulates Transcription of DNA Repair Genes;Estrogen-dependent gene expression PE1 9 +NX_P50851 Lipopolysaccharide-responsive and beige-like anchor protein 2863 319108 5.39 1 trans-Golgi network;Golgi apparatus;Cell membrane;Endoplasmic reticulum;Lysosome;Cytosol Immunodeficiency, common variable, 8, with autoimmunity May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules. NA NA NA PE1 4 +NX_P50876 E3 ubiquitin-protein ligase RNF144A 292 32890 5.91 1 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Cell membrane NA E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates the ubiquitination and degradation of the DNA damage kinase PRKDC. Autoubiquitinated. Belongs to the RBR family. RNF144 subfamily. Protein modification; protein ubiquitination.;E3 ubiquitin ligases ubiquitinate target proteins PE1 2 +NX_P50895 Basal cell adhesion molecule 628 67405 5.53 1 Membrane;Nucleolus NA Laminin alpha-5 receptor. May mediate intracellular signaling. Epinephrine-stimulated phosphorylation of Ser-621 by PKA enhances adhesion to laminin. NA NA PE1 19 +NX_P50897 Palmitoyl-protein thioesterase 1 306 34193 6.07 0 Golgi apparatus;Lysosome;Secreted;Cytoplasmic vesicle Ceroid lipofuscinosis, neuronal, 1 Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons (PubMed:8816748). Glycosylated. Belongs to the palmitoyl-protein thioesterase family. Fatty acid elongation;Metabolic pathways;Lysosome;Fatty acyl-CoA biosynthesis PE1 1 +NX_P50914 60S ribosomal protein L14 215 23432 10.94 0 Cytoplasm NA Component of the large ribosomal subunit. NA Belongs to the eukaryotic ribosomal protein eL14 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 3 +NX_P50990 T-complex protein 1 subunit theta 548 59621 5.42 0 Cytoplasm;Cilium basal body;Nucleoplasm;Centrosome;Cytosol;Cytoskeleton NA Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable). NA Belongs to the TCP-1 chaperonin family. BBSome-mediated cargo-targeting to cilium;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Folding of actin by CCT/TriC;Association of TriC/CCT with target proteins during biosynthesis;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Neutrophil degranulation PE1 21 +NX_P50991 T-complex protein 1 subunit delta 539 57924 7.96 0 Cytoplasm;Cilium basal body;Nucleoplasm;Melanosome;Centrosome;Cytosol NA Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable). NA Belongs to the TCP-1 chaperonin family. BBSome-mediated cargo-targeting to cilium;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Folding of actin by CCT/TriC;Association of TriC/CCT with target proteins during biosynthesis;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding PE1 2 +NX_P50993 Sodium/potassium-transporting ATPase subunit alpha-2 1020 112265 5.47 10 Membrane;Cell membrane Alternating hemiplegia of childhood 1;Migraine, familial hemiplegic, 2 This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. Cardiac muscle contraction;Aldosterone-regulated sodium reabsorption;Endocrine and other factor-regulated calcium reabsorption;Proximal tubule bicarbonate reclamation;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Carbohydrate digestion and absorption;Protein digestion and absorption;Bile secretion;Mineral absorption;Ion transport by P-type ATPases;Ion homeostasis PE1 1 +NX_P50995 Annexin A11 505 54390 7.53 0 Cytoplasm;Nucleoplasm;Nucleus envelope;Melanosome;Cytosol;Spindle Amyotrophic lateral sclerosis 23 Binds specifically to calcyclin in a calcium-dependent manner (By similarity). Required for midbody formation and completion of the terminal phase of cytokinesis. NA Belongs to the annexin family. NA PE1 10 +NX_P51003 Poly(A) polymerase alpha 745 82843 6.96 0 Cytoplasm;Nucleoplasm;Nucleus NA Polymerase that creates the 3'-poly(A) tail of mRNA's. Also required for the endoribonucleolytic cleavage reaction at some polyadenylation sites. May acquire specificity through interaction with a cleavage and polyadenylation specificity factor (CPSF) at its C-terminus. Hyperphosphorylation on multiple CDK2 consensus and non-consensus sites in the C-terminal Ser/Thr-rich region represses PAP activity in late M-phase. Phosphorylation/dephosphorylation may regulate the interaction between PAP and CPSF (By similarity).;Polysumoylated. Varying sumolyation depending on tissue- and cell-type. Highly sumoylated in bladder and NIH 3T3 cells. Sumoylation is required for nuclear localization and enhances PAP stability. Desumoylated by SENP1. Inhibits polymerase activity (By similarity).;Acetylated in the C-terminus. Acetylation decreases interaction with NUDT21 and KPNB1, and inhibits nuclear localization through inhibiting binding to the importin alpha/beta complex (By similarity). Belongs to the poly(A) polymerase family. mRNA surveillance pathway;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Processing of Intronless Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 14 +NX_P51114 Fragile X mental retardation syndrome-related protein 1 621 69721 5.84 0 Cytoplasm;Cytosol NA RNA-binding protein required for embryonic and postnatal development of muscle tissue. May regulate intracellular transport and local translation of certain mRNAs (By similarity). Arg-445 is dimethylated, probably to asymmetric dimethylarginine. Belongs to the FMR1 family. Signaling by BRAF and RAF fusions PE1 3 +NX_P51116 Fragile X mental retardation syndrome-related protein 2 673 74223 5.95 0 Cytoplasm;Cytosol NA RNA-binding protein. NA Belongs to the FMR1 family. NA PE1 17 +NX_P51124 Granzyme M 257 27545 10.16 0 Cytoplasmic granule;Secreted NA Cleaves peptide substrates after methionine, leucine, and norleucine. Physiological substrates include EZR, alpha-tubulins and the apoptosis inhibitor BIRC5/Survivin. Promotes caspase activation and subsequent apoptosis of target cells. NA Belongs to the peptidase S1 family. Granzyme subfamily. Alternative complement activation PE1 19 +NX_P51148 Ras-related protein Rab-5C 216 23483 8.64 0 Early endosome membrane;Endosome;Melanosome;Cell membrane NA Protein transport. Probably involved in vesicular traffic (By similarity). Phosphorylation of Ser-85 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitors GDI1 and GDI2. Belongs to the small GTPase superfamily. Rab family. Endocytosis;Phagosome;Vasopressin-regulated water reabsorption;Amoebiasis;Tuberculosis;Golgi Associated Vesicle Biogenesis;Clathrin-mediated endocytosis;Neutrophil degranulation;RAB GEFs exchange GTP for GDP on RABs;TBC/RABGAPs;RAB geranylgeranylation PE1 17 +NX_P51149 Ras-related protein Rab-7a 207 23490 6.39 0 Autophagosome membrane;Endosome membrane;Lipid droplet;Phagosome membrane;Lysosome membrane;Lysosome;Melanosome membrane;Late endosome membrane Charcot-Marie-Tooth disease 2B Key regulator in endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubule minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport through different protein-protein interaction cascades. Plays a central role, not only in endosomal traffic, but also in many other cellular and physiological events, such as growth-factor-mediated cell signaling, nutrient-transportor mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in regulation of some specialized endosomal membrane trafficking, such as maturation of melanosomes, pathogen-induced phagosomes (or vacuoles) and autophagosomes. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes. Plays important roles in microbial pathogen infection and survival, as well as in participating in the life cycle of viruses. Microbial pathogens possess survival strategies governed by RAB7A, sometimes by employing RAB7A function (e.g. Salmonella) and sometimes by excluding RAB7A function (e.g. Mycobacterium). In concert with RAC1, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts. Controls the endosomal trafficking and neurite outgrowth signaling of NTRK1/TRKA (PubMed:11179213, PubMed:12944476, PubMed:14617358, PubMed:20028791, PubMed:21255211). Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation. Involved in the ADRB2-stimulated lipolysis through lipophagy, a cytosolic lipase-independent autophagic pathway (By similarity). Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). NA Belongs to the small GTPase superfamily. Rab family. Endocytosis;Phagosome;Salmonella infection;Amoebiasis;Tuberculosis;MHC class II antigen presentation;Neutrophil degranulation;RAB GEFs exchange GTP for GDP on RABs;TBC/RABGAPs;RAB geranylgeranylation PE1 3 +NX_P51151 Ras-related protein Rab-9A 201 22838 5.26 0 Endoplasmic reticulum membrane;Cell membrane;Phagosome membrane;Cytoplasmic vesicle membrane;Nucleoplasm;Melanosome;Phagosome;Late endosome;Golgi apparatus membrane;Cytosol NA Involved in the transport of proteins between the endosomes and the trans Golgi network. Involved in the recruitment of SGSM2 to melanosomes and is required for the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes. NA Belongs to the small GTPase superfamily. Rab family. Measles;Retrograde transport at the Trans-Golgi-Network;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 X +NX_P51153 Ras-related protein Rab-13 203 22774 9.27 0 Cell membrane;trans-Golgi network membrane;Cytoplasmic vesicle membrane;Tight junction;Lamellipodium;Recycling endosome membrane;Cytosol NA The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in endocytic recycling and regulates the transport to the plasma membrane of transmembrane proteins like the tight junction protein OCLN/occludin. Thereby, it regulates the assembly and the activity of tight junctions. Moreover, it may also regulate tight junction assembly by activating the PKA signaling pathway and by reorganizing the actin cytoskeleton through the activation of the downstream effectors PRKACA and MICALL2 respectively. Through its role in tight junction assembly, may play a role in the establishment of Sertoli cell barrier. Plays also a role in angiogenesis through regulation of endothelial cells chemotaxis. Also involved in neurite outgrowth. Has also been proposed to play a role in post-Golgi membrane trafficking from the TGN to the recycling endosome. Finally, it has been involved in insulin-induced transport to the plasma membrane of the glucose transporter GLUT4 and therefore may play a role in glucose homeostasis. NA Belongs to the small GTPase superfamily. Rab family. Tight junction;Translocation of SLC2A4 (GLUT4) to the plasma membrane;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 1 +NX_P51157 Ras-related protein Rab-28 221 24841 5.7 0 Cilium basal body;Cell membrane Cone-rod dystrophy 18 NA NA Belongs to the small GTPase superfamily. Rab family. NA PE1 4 +NX_P51159 Ras-related protein Rab-27A 221 24868 5.09 0 Membrane;Melanosome;Late endosome;Lysosome Griscelli syndrome 2 Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion (PubMed:30771381). Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. NA Belongs to the small GTPase superfamily. Rab family. Insulin processing;Neutrophil degranulation;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 15 +NX_P51160 Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' 858 99147 5.5 0 Cell membrane Cone dystrophy 4;Achromatopsia 5 As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP. NA Belongs to the cyclic nucleotide phosphodiesterase family. Purine metabolism PE1 10 +NX_P51161 Gastrotropin 128 14371 6.29 0 Membrane;Cytoplasm NA Essential for the survival of colon cancer cells to bile acid-induced apoptosis.;Binds to bile acids and is involved in enterohepatic bile acid metabolism. Required for efficient apical to basolateral transport of conjugated bile acids in ileal enterocytes (By similarity). In vitro binds to bile acids in the order: deoxycholic acid > cholic acid > chenodeoxycholic acid and respective BA conjugation modifies affinities in the order taurine-conjugated > glycine-conjugated > unconjugated bile acids. Stimulates gastric acid and pepsinogen secretion (By similarity). NA Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. PPAR signaling pathway;Triglyceride catabolism;Recycling of bile acids and salts PE1 5 +NX_P51164 Potassium-transporting ATPase subunit beta 291 33367 6.98 1 Cell membrane NA Required for stabilization and maturation of the catalytic proton pump alpha subunit and may also involved in cell adhesion and establishing epithelial cell polarity. NA Belongs to the X(+)/potassium ATPases subunit beta family. Oxidative phosphorylation;Collecting duct acid secretion;Gastric acid secretion;Ion transport by P-type ATPases PE1 13 +NX_P51168 Amiloride-sensitive sodium channel subunit beta 640 72659 5.89 2 Cytoplasmic vesicle membrane;Apical cell membrane Liddle syndrome 1;Bronchiectasis with or without elevated sweat chloride 1;Pseudohypoaldosteronism 1, autosomal recessive Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception. Phosphorylated on serine and threonine residues. Aldosterone and insulin increase the basal level of phosphorylation.;N-glycosylated. N-glycosylation is required for interaction with BPIFA1. Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1B subfamily. Taste transduction;Aldosterone-regulated sodium reabsorption;Stimuli-sensing channels PE1 16 +NX_P51170 Amiloride-sensitive sodium channel subunit gamma 649 74270 7.47 2 Nucleoplasm;Apical cell membrane;Cell membrane Bronchiectasis with or without elevated sweat chloride 3;Liddle syndrome 2 Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception. Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation.;ENaC cleavage by furin, and subsequently by prostasin (PRSS8), leads to a stepwise increase in the open probability of the channel as a result of release of the alpha and gamma subunit inhibitory tracts, respectively. Interaction of ENaC subunit SCNN1B with BPIFA1 protects ENaC against proteolytic activation.;Phosphorylated on serine and threonine residues. Aldosterone and insulin increase the basal level of phosphorylation. Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1G subfamily. Taste transduction;Aldosterone-regulated sodium reabsorption;Stimuli-sensing channels PE1 16 +NX_P51172 Amiloride-sensitive sodium channel subunit delta 802 87850 8.87 2 Cytoskeleton;Cell membrane NA Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception. NA Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1D subfamily. Stimuli-sensing channels PE1 1 +NX_P51178 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 756 85665 6.23 0 Cytoskeleton Nail disorder, non-syndromic congenital, 3 The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. Essential for trophoblast and placental development. NA NA Inositol phosphate metabolism;Metabolic pathways;Calcium signaling pathway;Phosphatidylinositol signaling system;Synthesis of IP3 and IP4 in the cytosol PE1 3 +NX_P51397 Death-associated protein 1 102 11165 9.3 0 Cytoplasm NA Negative regulator of autophagy. Involved in mediating interferon-gamma-induced cell death. Phosphorylated. Phosphorylation by MTOR inhibits the suppressive activity of DAP toward autophagy. NA NA PE1 5 +NX_P51398 28S ribosomal protein S29, mitochondrial 398 45566 9.02 0 Nucleoplasm;Mitochondrion NA Involved in mediating interferon-gamma-induced cell death. NA Belongs to the mitochondrion-specific ribosomal protein mS29 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 1 +NX_P51449 Nuclear receptor ROR-gamma 518 58195 8.88 0 Nucleus Immunodeficiency 42 Essential for thymopoiesis and the development of several secondary lymphoid tissues, including lymph nodes and Peyer's patches. Required for the generation of LTi (lymphoid tissue inducer) cells. Regulates thymocyte survival through DNA-binding on ROREs of target gene promoter regions and recruitment of coactivaros via the AF-2. Also plays a key role, downstream of IL6 and TGFB and synergistically with RORA, for lineage specification of uncommitted CD4(+) T-helper (T(H)) cells into T(H)17 cells, antagonizing the T(H)1 program. Probably regulates IL17 and IL17F expression on T(H) by binding to the essential enhancer conserved non-coding sequence 2 (CNS2) in the IL17-IL17F locus. May also play a role in the pre-TCR activation cascade leading to the maturation of alpha/beta T-cells and may participate in the regulation of DNA accessibility in the TCR-J(alpha) locus.;Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Key regulator of cellular differentiation, immunity, peripheral circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism (PubMed:19381306, PubMed:19965867, PubMed:22789990, PubMed:26160376, PubMed:20203100). Considered to have intrinsic transcriptional activity, have some natural ligands like oxysterols that act as agonists (25-hydroxycholesterol) or inverse agonists (7-oxygenated sterols), enhancing or repressing the transcriptional activity, respectively (PubMed:19965867, PubMed:22789990). Recruits distinct combinations of cofactors to target gene regulatory regions to modulate their transcriptional expression, depending on the tissue, time and promoter contexts. Regulates the circadian expression of clock genes such as CRY1, ARNTL/BMAL1 and NR1D1 in peripheral tissues and in a tissue-selective manner. Competes with NR1D1 for binding to their shared DNA response element on some clock genes such as ARNTL/BMAL1, CRY1 and NR1D1 itself, resulting in NR1D1-mediated repression or RORC-mediated activation of the expression, leading to the circadian pattern of clock genes expression. Therefore influences the period length and stability of the clock. Involved in the regulation of the rhythmic expression of genes involved in glucose and lipid metabolism, including PLIN2 and AVPR1A (PubMed:19965867). Negative regulator of adipocyte differentiation through the regulation of early phase genes expression, such as MMP3. Controls adipogenesis as well as adipocyte size and modulates insulin sensitivity in obesity. In liver, has specific and redundant functions with RORA as positive or negative modulator of expression of genes encoding phase I and Phase II proteins involved in the metabolism of lipids, steroids and xenobiotics, such as SULT1E1. Also plays also a role in the regulation of hepatocyte glucose metabolism through the regulation of G6PC and PCK1 (PubMed:19965867). Regulates the rhythmic expression of PROX1 and promotes its nuclear localization (PubMed:19381306, PubMed:19965867, PubMed:22789990, PubMed:26160376, PubMed:20203100). Plays an indispensable role in the induction of IFN-gamma dependent anti-mycobacterial systemic immunity (PubMed:26160376). NA Belongs to the nuclear hormone receptor family. NR1 subfamily. Circadian rhythm - mammal;Nuclear Receptor transcription pathway;Interleukin-4 and Interleukin-13 signaling;RUNX3 Regulates Immune Response and Cell Migration PE1 1 +NX_P51451 Tyrosine-protein kinase Blk 505 57706 7.98 0 Nucleoplasm;Cell membrane Maturity-onset diabetes of the young 11 Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling (By similarity). B-cell receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated coreceptors (By similarity). Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation (By similarity). Signaling through BLK plays an important role in transmitting signals through surface immunoglobulins and supports the pro-B to pre-B transition, as well as the signaling for growth arrest and apoptosis downstream of B-cell receptor (By similarity). Specifically binds and phosphorylates CD79A at 'Tyr-188'and 'Tyr-199', as well as CD79B at 'Tyr-196' and 'Tyr-207' (By similarity). Phosphorylates also the immunoglobulin G receptors FCGR2A, FCGR2B and FCGR2C (PubMed:8756631). With FYN and LYN, plays an essential role in pre-B-cell receptor (pre-BCR)-mediated NF-kappa-B activation (By similarity). Contributes also to BTK activation by indirectly stimulating BTK intramolecular autophosphorylation (By similarity). In pancreatic islets, acts as a modulator of beta-cells function through the up-regulation of PDX1 and NKX6-1 and consequent stimulation of insulin secretion in response to glucose (PubMed:19667185). Phosphorylates CGAS, promoting retention of CGAS in the cytosol (PubMed:30356214). Ubiquitination of activated BLK by the UBE3A ubiquitin protein ligase leads to its degradation by the ubiquitin-proteasome pathway.;Phosphorylated on tyrosine residues after antibody-mediated surface engagement of the B-cell antigen receptor (BCR).;Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;RUNX1 regulates transcription of genes involved in BCR signaling PE1 8 +NX_P51452 Dual specificity protein phosphatase 3 185 20478 7.66 0 Nucleoplasm;Cytosol;Nucleus NA Shows activity both for tyrosine-protein phosphate and serine-protein phosphate, but displays a strong preference toward phosphotyrosines. Specifically dephosphorylates and inactivates ERK1 and ERK2. DUSP3 is phosphorylated by SYK Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. MAPK signaling pathway;ERKs are inactivated PE1 17 +NX_P51460 Insulin-like 3 131 14502 9.18 0 Secreted Cryptorchidism Seems to play a role in testicular function. May be a trophic hormone with a role in testicular descent in fetal life. Is a ligand for LGR8 receptor. NA Belongs to the insulin family. Relaxin receptors;G alpha (s) signalling events PE1 19 +NX_P51504 Zinc finger protein 80 273 31224 9.04 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE2 3 +NX_P51508 Zinc finger protein 81 661 75960 8.96 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 X +NX_P51511 Matrix metalloproteinase-15 669 75807 7.03 1 Membrane;Nucleoplasm;Cytosol;Cell membrane NA Endopeptidase that degrades various components of the extracellular matrix. May activate progelatinase A. The precursor is cleaved by a furin endopeptidase. Belongs to the peptidase M10A family. Degradation of the extracellular matrix;Collagen degradation;Activation of Matrix Metalloproteinases PE1 16 +NX_P51512 Matrix metalloproteinase-16 607 69521 8.72 1 Extracellular matrix;Cell membrane;Cell surface;Cytoplasmic vesicle;Cytosol NA Endopeptidase that degrades various components of the extracellular matrix, such as collagen type III and fibronectin. Activates progelatinase A. Involved in the matrix remodeling of blood vessels.;Cleaves fibronectin and also collagen type III, but at lower rate. It has no effect on type I, II, IV and V collagen. However, upon interaction with CSPG4, it may be involved in degradation and invasion of type I collagen by melanoma cells. The precursor is cleaved by a furin endopeptidase. Belongs to the peptidase M10A family. Activation of Matrix Metalloproteinases PE1 8 +NX_P51513 RNA-binding protein Nova-1 507 51727 8.8 0 Nucleoplasm;Nucleolus;Nucleus NA May regulate RNA splicing or metabolism in a specific subset of developing neurons. NA NA NA PE1 14 +NX_P51522 Zinc finger protein 83 516 59710 9.38 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_P51523 Zinc finger protein 84 738 85457 9.05 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 12 +NX_P51530 DNA replication ATP-dependent helicase/nuclease DNA2 1060 120415 7.95 0 Mitochondrion;Nucleus Seckel syndrome 8;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Involved in Okazaki fragments processing by cleaving long flaps that escape FEN1: flaps that are longer than 27 nucleotides are coated by replication protein A complex (RPA), leading to recruit DNA2 which cleaves the flap until it is too short to bind RPA and becomes a substrate for FEN1. Also involved in 5'-end resection of DNA during double-strand break (DSB) repair: recruited by BLM and mediates the cleavage of 5'-ssDNA, while the 3'-ssDNA cleavage is prevented by the presence of RPA. Also involved in DNA replication checkpoint independently of Okazaki fragments processing. Possesses different enzymatic activities, such as single-stranded DNA (ssDNA)-dependent ATPase, 5'-3' helicase and endonuclease activities. While the ATPase and endonuclease activities are well-defined and play a key role in Okazaki fragments processing and DSB repair, the 5'-3' DNA helicase activity is subject to debate. According to various reports, the helicase activity is weak and its function remains largely unclear. Helicase activity may promote the motion of DNA2 on the flap, helping the nuclease function. Acetylated by EP300, leading to stimulate the 5'-3' endonuclease, the 5'-3' helicase and DNA-dependent ATPase activities, possibly by increasing DNA substrate affinity. Belongs to the DNA2/NAM7 helicase family. DNA replication;G2/M DNA damage checkpoint;Removal of the Flap Intermediate from the C-strand;Removal of the Flap Intermediate;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Regulation of TP53 Activity through Phosphorylation PE1 10 +NX_P51531 Probable global transcription activator SNF2L2 1590 181279 6.76 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytoskeleton Nicolaides-Baraitser syndrome;Schizophrenia Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically (PubMed:22952240, PubMed:26601204). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). NA Belongs to the SNF2/RAD54 helicase family. RMTs methylate histone arginines;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 9 +NX_P51532 Transcription activator BRG1 1647 184646 7.83 0 Nucleoplasm;Nucleus Rhabdoid tumor predisposition syndrome 2;Coffin-Siris syndrome 4 Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating the calcium-dependent release of a repressor complex and the recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by SMARCA4-dependent recruitment of a phospho-RB1-HDAC repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves the release of HDAC1 and recruitment of CREBBP. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development, a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. SMARCA4/BAF190A may promote neural stem cell self-renewal/proliferation by enhancing Notch-dependent proliferative signals, while concurrently making the neural stem cell insensitive to SHH-dependent differentiating cues (By similarity). Acts as a corepressor of ZEB1 to regulate E-cadherin transcription and is required for induction of epithelial-mesenchymal transition (EMT) by ZEB1. Binds via DLX1 to enhancers located in the intergenic region between DLX5 and DLX6 and this binding is stabilized by the long non-coding RNA (lncRNA) Evf2 (By similarity). Binds to RNA in a promiscuous manner (By similarity). Binding to RNAs including lncRNA Evf2 leads to inhibition of SMARCA4 ATPase and chromatin remodeling activities (By similarity). NA Belongs to the SNF2/RAD54 helicase family. RMTs methylate histone arginines;Interleukin-7 signaling;Formation of the beta-catenin:TCF transactivating complex;Chromatin modifying enzymes;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 19 +NX_P51553 Isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial 393 42794 8.75 0 Mitochondrion;Nucleolus NA Regulatory subunit which plays a role in the allosteric regulation of the enzyme catalyzing the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers. NA Belongs to the isocitrate and isopropylmalate dehydrogenases family. Citrate cycle (TCA cycle);Metabolic pathways;Mitochondrial protein import;Citric acid cycle (TCA cycle) PE1 X +NX_P51570 Galactokinase 392 42272 6.04 0 Golgi apparatus;Cytosol Galactosemia II Major enzyme for galactose metabolism. NA Belongs to the GHMP kinase family. GalK subfamily. Carbohydrate metabolism; galactose metabolism.;Galactose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Galactose catabolism;Defective GALK1 can cause Galactosemia II (GALCT2) PE1 17 +NX_P51571 Translocon-associated protein subunit delta 173 18999 5.76 1 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1Y TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins. NA Belongs to the TRAP-delta family. Protein processing in endoplasmic reticulum;SRP-dependent cotranslational protein targeting to membrane PE1 X +NX_P51572 B-cell receptor-associated protein 31 246 27992 8.44 3 Endoplasmic reticulum;Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane Deafness, dystonia, and cerebral hypomyelination Functions as a chaperone protein. Is one of the most abundant endoplasmic reticulum (ER) proteins. Plays a role in the export of secreted proteins in the ER, the recognition of abnormally folded protein and their targeting to the ER associated-degradation (ERAD). Also serves as a cargo receptor for the export of transmembrane proteins. May be involved in CASP8-mediated apoptosis. Cleaved by CASP8 and other caspases. Belongs to the BCAP29/BCAP31 family. Protein processing in endoplasmic reticulum;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;Apoptotic cleavage of cellular proteins;Apoptotic execution phase PE1 X +NX_P51575 P2X purinoceptor 1 399 44980 8.75 2 Membrane NA Ligand-gated ion channel with relatively high calcium permeability. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Seems to be linked to apoptosis, by increasing the intracellular concentration of calcium in the presence of ATP, leading to programmed cell death (By similarity). NA Belongs to the P2X receptor family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Elevation of cytosolic Ca2+ levels;Platelet homeostasis;Neutrophil degranulation PE1 17 +NX_P51580 Thiopurine S-methyltransferase 245 28180 5.85 0 Cytoplasm NA Catalyzes the S-methylation of thiopurine drugs such as 6-mercaptopurine (also called mercaptopurine, 6-MP or its brand name Purinethol) and 6-thioguanine (also called tioguanine or 6-TG) using S-adenosyl-L-methionine as the methyl donor (PubMed:657528, PubMed:18484748). TPMT activity modulates the cytotoxic effects of thiopurine prodrugs. A natural substrate for this enzyme has yet to be identified. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. TPMT family. Drug metabolism - other enzymes;Methylation;Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) PE1 6 +NX_P51582 P2Y purinoceptor 4 365 40963 8.92 7 Cell membrane NA Receptor for UTP and UDP coupled to G-proteins that activate a phosphatidylinositol-calcium second messenger system. Not activated by ATP or ADP. Phosphorylation of Ser-333 and Ser-334 is a key step in agonist-dependent desensitization and loss of surface P2RY4. This phosphorylation does not involve PKC, nor other calcium activated kinases. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;P2Y receptors PE1 X +NX_P51587 Breast cancer type 2 susceptibility protein 3418 384202 6.29 0 Nucleoplasm;Cytosol;Centrosome;Nucleus Breast cancer;Pancreatic cancer 2;Breast-ovarian cancer, familial, 2;Fanconi anemia complementation group D1;Glioma 3 Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51-ssDNA filaments by blocking ATP hydrolysis. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. Binds selectively to ssDNA, and to ssDNA in tailed duplexes and replication fork structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with PALB2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity. In concert with NPM1, regulates centrosome duplication. Interacts with the TREX-2 complex (transcription and export complex 2) subunits PCID2 and SEM1, and is required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability. Silencing of BRCA2 promotes R-loop accumulation at actively transcribed genes in replicating and non-replicating cells, suggesting that BRCA2 mediates the control of R-loop associated genomic instability, independently of its known role in homologous recombination (PubMed:24896180). Ubiquitinated in the absence of DNA damage; this does not lead to proteasomal degradation. In contrast, ubiquitination in response to DNA damage leads to proteasomal degradation.;Phosphorylated by ATM upon irradiation-induced DNA damage. Phosphorylation by CHEK1 and CHEK2 regulates interaction with RAD51. Phosphorylation at Ser-3291 by CDK1 and CDK2 is low in S phase when recombination is active, but increases as cells progress towards mitosis; this phosphorylation prevents homologous recombination-dependent repair during S phase and G2 by inhibiting RAD51 binding.;BRCA2 is phosphorylated by PLK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Homologous recombination;Fanconi anemia pathway;Pathways in cancer;Pancreatic cancer;Meiotic recombination;HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Presynaptic phase of homologous DNA pairing and strand exchange PE1 13 +NX_P51589 Cytochrome P450 2J2 502 57611 8.76 0 Microsome membrane;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of polyunsaturated fatty acids (PUFA) in the cardiovascular system (PubMed:8631948, PubMed:19965576). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:8631948, PubMed:19965576). Catalyzes the epoxidation of double bonds of PUFA (PubMed:8631948, PubMed:19965576). Converts arachidonic acid to four regioisomeric epoxyeicosatrienoic acids (EpETrE), likely playing a major role in the epoxidation of endogenous cardiac arachidonic acid pools (PubMed:8631948). In endothelial cells, participates in eicosanoids metabolism by converting hydroperoxide species into hydroxy epoxy metabolites. In combination with 15-lipoxygenase metabolizes arachidonic acid and converts hydroperoxyicosatetraenoates (HpETEs) into hydroxy epoxy eicosatrienoates (HEETs), which are precursors of vasodilatory trihydroxyicosatrienoic acids (THETAs). This hydroperoxide isomerase activity is NADPH- and O2-independent (PubMed:19737933). Catalyzes the monooxygenation of a various xenobiotics, such as danazol, amiodarone, terfenadine, astemizole, thioridazine, tamoxifen, cyclosporin A and nabumetone (PubMed:19923256). Catalyzes hydroxylation of the anthelmintics albendazole and fenbendazole (PubMed:23959307). Catalyzes the sulfoxidation of fenbedazole (PubMed:19923256). NA Belongs to the cytochrome P450 family. Lipid metabolism; arachidonate metabolism.;Arachidonic acid metabolism;Linoleic acid metabolism;Metabolic pathways;Xenobiotics;Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET);Fatty acids PE1 1 +NX_P51606 N-acylglucosamine 2-epimerase 427 48831 5.95 0 Cytoplasm;Nucleus NA Catalyzes the interconversion of N-acetylglucosamine to N-acetylmannosamine. Binds to renin forming a protein complex called high molecular weight (HMW) renin and inhibits renin activity. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded. NA Belongs to the N-acylglucosamine 2-epimerase family. Amino-sugar metabolism; N-acetylneuraminate degradation.;Amino sugar and nucleotide sugar metabolism;Synthesis of UDP-N-acetyl-glucosamine PE1 X +NX_P51608 Methyl-CpG-binding protein 2 486 52441 9.95 0 Nucleoplasm;Nucleus Autism, X-linked 3;Mental retardation, X-linked, syndromic, Lubs type;Encephalopathy, neonatal severe, due to MECP2 mutations;Rett syndrome;Mental retardation, X-linked, syndromic, 13;Angelman syndrome Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC). Phosphorylated on Ser-423 in brain upon synaptic activity, which attenuates its repressor activity and seems to regulate dendritic growth and spine maturation.;MECP2 is phosphorylated by CDKL5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Transcriptional Regulation by MECP2;Regulation of MECP2 expression and activity;MECP2 regulates neuronal receptors and channels;MECP2 regulates transcription of genes involved in GABA signaling;Loss of MECP2 binding ability to the NCoR/SMRT complex;MECP2 regulates transcription of neuronal ligands;Loss of MECP2 binding ability to 5mC-DNA;MECP2 regulates transcription factors;Loss of phosphorylation of MECP2 at T308;Loss of MECP2 binding ability to 5hmC-DNA PE1 X +NX_P51610 Host cell factor 1 2035 208732 7.32 0 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus Mental retardation, X-linked 3 (Microbial infection) In case of human herpes simplex virus (HSV) infection, HCFC1 forms a multiprotein-DNA complex with the viral transactivator protein VP16 and POU2F1 thereby enabling the transcription of the viral immediate early genes.;Involved in control of the cell cycle (PubMed:10629049, PubMed:10779346, PubMed:15190068, PubMed:16624878, PubMed:23629655). Also antagonizes transactivation by ZBTB17 and GABP2; represses ZBTB17 activation of the p15(INK4b) promoter and inhibits its ability to recruit p300 (PubMed:10675337, PubMed:12244100). Coactivator for EGR2 and GABP2 (PubMed:12244100, PubMed:14532282). Tethers the chromatin modifying Set1/Ash2 histone H3 'Lys-4' methyltransferase (H3K4me) and Sin3 histone deacetylase (HDAC) complexes (involved in the activation and repression of transcription, respectively) together (PubMed:12670868). Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1 (PubMed:20200153). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues (PubMed:20018852). Recruits KMT2E/MLL5 to E2F1 responsive promoters promoting transcriptional activation and thereby facilitates G1 to S phase transition (PubMed:23629655). Proteolytically cleaved at one or several PPCE--THET sites within the HCF repeats. Further cleavage of the primary N- and C-terminal chains results in a 'trimming' and accumulation of the smaller chains. Cleavage is promoted by O-glycosylation.;O-glycosylated. GlcNAcylation by OGT promotes proteolytic processing.;Ubiquitinated. Lys-1807 and Lys-1808 are ubiquitinated both via 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. BAP1 mediated deubiquitination of 'Lys-48'-linked polyubiquitin chains; deubiquitination by BAP1 does not seem to stabilize the protein. NA Herpes simplex infection;HATs acetylate histones;Transcriptional activation of mitochondrial biogenesis;UCH proteinases PE1 X +NX_P51617 Interleukin-1 receptor-associated kinase 1 712 76537 6.18 0 Cytoplasm;Mitochondrion;Lipid droplet;Nucleoplasm;Cytosol;Nucleus NA Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways. Is rapidly recruited by MYD88 to the receptor-signaling complex upon TLR activation. Association with MYD88 leads to IRAK1 phosphorylation by IRAK4 and subsequent autophosphorylation and kinase activation. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquitination of IRAK1. Then, the ubiquitin-binding domain of IKBKG/NEMO binds to polyubiquitinated IRAK1 bringing together the IRAK1-MAP3K7/TAK1-TRAF6 complex and the NEMO-IKKA-IKKB complex. In turn, MAP3K7/TAK1 activates IKKs (CHUK/IKKA and IKBKB/IKKB) leading to NF-kappa-B nuclear translocation and activation. Alternatively, phosphorylates TIRAP to promote its ubiquitination and subsequent degradation. Phosphorylates the interferon regulatory factor 7 (IRF7) to induce its activation and translocation to the nucleus, resulting in transcriptional activation of type I IFN genes, which drive the cell in an antiviral state. When sumoylated, translocates to the nucleus and phosphorylates STAT3. Polyubiquitinated by TRAF6 after cell stimulation with IL-1-beta by PELI1, PELI2 and PELI3. Polyubiquitination occurs with polyubiquitin chains linked through 'Lys-63'. Ubiquitination promotes interaction with NEMO/IKBKG. Also sumoylated; leading to nuclear translocation.;Following recruitment on the activated receptor complex, phosphorylated on Thr-209, probably by IRAK4, resulting in a conformational change of the kinase domain, allowing further phosphorylations to take place. Thr-387 phosphorylation in the activation loop is required to achieve full enzymatic activity.;IRAK1 is phosphorylated by AKT1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);IRAK1 is phosphorylated by PRKCD (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Pelle subfamily. Apoptosis;Toll-like receptor signaling pathway;Neurotrophin signaling pathway;Pertussis;Leishmaniasis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Tuberculosis;Measles;PIP3 activates AKT signaling;NOD1/2 Signaling Pathway;activated TAK1 mediates p38 MAPK activation;MyD88:MAL(TIRAP) cascade initiated on plasma membrane;p75NTR recruits signalling complexes;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;MyD88 dependent cascade initiated on endosome;MyD88 cascade initiated on plasma membrane;IRAK1 recruits IKK complex;IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;NF-kB is activated and signals survival;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Interleukin-1 signaling;Transcriptional Regulation by MECP2 PE1 X +NX_P51636 Caveolin-2 162 18291 5.06 0 Cytoplasm;Golgi apparatus;Cell membrane;Caveola;Golgi apparatus membrane;Cytoplasmic vesicle;Nucleus NA May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. Acts as an accessory protein in conjunction with CAV1 in targeting to lipid rafts and driving caveolae formation. The Ser-36 phosphorylated form has a role in modulating mitosis in endothelial cells. Positive regulator of cellular mitogenesis of the MAPK signaling pathway. Required for the insulin-stimulated nuclear translocation and activation of MAPK1 and STAT3, and the subsequent regulation of cell cycle progression (By similarity). Phosphorylated on serine and tyrosine residues. CAV1 promotes phosphorylation on Ser-23 which then targets the complex to the plasma membrane, lipid rafts and caveolae. Phosphorylation on Ser-36 appears to modulate mitosis in endothelial cells (By similarity). Phosphorylation on both Tyr-19 and Tyr-27 is required for insulin-induced 'Ser-727' phosphorylation of STAT3 and its activation. Phosphorylation on Tyr-19 is required for insulin-induced phosphorylation of MAPK1 and DNA binding of STAT3. Tyrosine phosphorylation is induced by both EGF and insulin (By similarity). Belongs to the caveolin family. Endocytosis;Focal adhesion;Bacterial invasion of epithelial cells;Extra-nuclear estrogen signaling PE1 7 +NX_P51648 Aldehyde dehydrogenase family 3 member A2 485 54848 7.98 1 Microsome membrane;Endoplasmic reticulum membrane Sjoegren-Larsson syndrome Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length (PubMed:9133646, PubMed:22633490, PubMed:25047030, PubMed:18035827, PubMed:9662422, PubMed:18182499). Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid (PubMed:22633490). NA Belongs to the aldehyde dehydrogenase family. Glycolysis / Gluconeogenesis;Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Fatty acid metabolism;Valine, leucine and isoleucine degradation;Lysine degradation;Arginine and proline metabolism;Histidine metabolism;Tryptophan metabolism;beta-Alanine metabolism;Glycerolipid metabolism;Pyruvate metabolism;Propanoate metabolism;Metabolic pathways;Sphingolipid de novo biosynthesis;Alpha-oxidation of phytanate;Class I peroxisomal membrane protein import;Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 17 +NX_P51649 Succinate-semialdehyde dehydrogenase, mitochondrial 535 57215 8.62 0 Mitochondrion Succinic semialdehyde dehydrogenase deficiency Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). NA Belongs to the aldehyde dehydrogenase family. Amino-acid degradation; 4-aminobutanoate degradation.;Alanine, aspartate and glutamate metabolism;Butanoate metabolism;Metabolic pathways;Degradation of GABA PE1 6 +NX_P51654 Glypican-3 580 65563 5.96 0 Cell membrane Simpson-Golabi-Behmel syndrome 1 Cell surface proteoglycan that bears heparan sulfate (PubMed:14610063). Negatively regulates the hedgehog signaling pathway when attached via the GPI-anchor to the cell surface by competing with the hedgehog receptor PTC1 for binding to hedgehog proteins (By similarity). Binding to the hedgehog protein SHH triggers internalization of the complex by endocytosis and its subsequent lysosomal degradation (By similarity). Positively regulates the canonical Wnt signaling pathway by binding to the Wnt receptor Frizzled and stimulating the binding of the Frizzled receptor to Wnt ligands (PubMed:16227623, PubMed:24496449). Positively regulates the non-canonical Wnt signaling pathway (By similarity). Binds to CD81 which decreases the availability of free CD81 for binding to the transcriptional repressor HHEX, resulting in nuclear translocation of HHEX and transcriptional repression (By similarity). Inhibits the dipeptidyl peptidase activity of DPP4 (PubMed:17549790). Plays a role in limb patterning and skeletal development by controlling the cellular response to BMP4 (By similarity). Modulates the effects of growth factors BMP2, BMP7 and FGF7 on renal branching morphogenesis (By similarity). Required for coronary vascular development (By similarity). Plays a role in regulating cell movements during gastrulation (By similarity). O-glycosylated; contains heparan sulfate.;Cleaved intracellularly by a furin-like convertase to generate 2 subunits, alpha and beta, which remain associated through disulfide bonds and are associated with the cell surface via the GPI-anchor (PubMed:14610063). This processing is essential for its role in inhibition of hedgehog signaling (PubMed:25653284). A second proteolytic event may result in cleavage of the protein on the cell surface, separating it from the GPI-anchor and leading to its shedding from the cell surface (PubMed:14610063). Belongs to the glypican family. Retinoid metabolism and transport;HS-GAG biosynthesis;A tetrasaccharide linker sequence is required for GAG synthesis;HS-GAG degradation;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;Defective EXT2 causes exostoses 2;Defective EXT1 causes exostoses 1, TRPS2 and CHDS;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Defective B3GALT6 causes EDSP2 and SEMDJL1;Post-translational protein phosphorylation PE1 X +NX_P51659 Peroxisomal multifunctional enzyme type 2 736 79686 8.96 0 Peroxisome Perrault syndrome 1;D-bifunctional protein deficiency Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Lipid metabolism; fatty acid beta-oxidation.;Primary bile acid biosynthesis;Metabolic pathways;Peroxisome;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Beta-oxidation of pristanoyl-CoA;alpha-linolenic acid (ALA) metabolism;Beta-oxidation of very long chain fatty acids;Peroxisomal protein import;TYSND1 cleaves peroxisomal proteins PE1 5 +NX_P51665 26S proteasome non-ATPase regulatory subunit 7 324 37025 6.29 0 Nucleoplasm NA Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. NA Belongs to the peptidase M67A family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neutrophil degranulation;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 16 +NX_P51668 Ubiquitin-conjugating enzyme E2 D1 147 16602 6.94 0 Cytoplasm NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:22496338). In vitro catalyzes 'Lys-48'-linked polyubiquitination (PubMed:20061386). Mediates the selective degradation of short-lived and abnormal proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Mediates ubiquitination of PEX5 and auto-ubiquitination of STUB1, TRAF6 and TRIM63/MURF1 (PubMed:18042044, PubMed:18359941). Ubiquitinates STUB1-associated HSP90AB1 in vitro (PubMed:18042044). Lacks inherent specificity for any particular lysine residue of ubiquitin (PubMed:18042044). Essential for viral activation of IRF3 (PubMed:19854139). Mediates polyubiquitination of CYP3A4 (PubMed:19103148). Autoubiquitinated in vitro. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;CDK-mediated phosphorylation and removal of Cdc6;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Downregulation of SMAD2/3:SMAD4 transcriptional activity;Senescence-Associated Secretory Phenotype (SASP);Signaling by BMP;Autodegradation of Cdh1 by Cdh1:APC/C;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of Cyclin B;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;APC/C:Cdc20 mediated degradation of mitotic proteins;Phosphorylation of the APC/C;APC-Cdc20 mediated degradation of Nek2A;Negative regulators of DDX58/IFIH1 signaling;IKK complex recruitment mediated by RIP1;Ovarian tumor domain proteases;Synthesis of active ubiquitin: roles of E1 and E2 enzymes;E3 ubiquitin ligases ubiquitinate target proteins;Neddylation;TICAM1, RIP1-mediated IKK complex recruitment;Peroxisomal protein import PE1 10 +NX_P51671 Eotaxin 97 10732 9.98 0 Secreted NA In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils, a prominent feature of allergic inflammatory reactions. Binds to CCR3. O-linked glycan consists of a Gal-GalNAc disaccharide which is modified with up to 2 sialic acid residues. Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Asthma;Interleukin-4 and Interleukin-13 signaling PE1 17 +NX_P51674 Neuronal membrane glycoprotein M6-a 278 31210 5.17 4 Dendritic spine;Cell membrane;Growth cone;Filopodium;Neuron projection;Axon NA Involved in neuronal differentiation, including differentiation and migration of neuronal stem cells. Plays a role in neuronal plasticity and is involved in neurite and filopodia outgrowth, filopodia motility and probably synapse formation. GPM6A-induced filopodia formation involves mitogen-activated protein kinase (MAPK) and Src signaling pathways. May be involved in neuronal NGF-dependent Ca(2+) influx. May be involved in regulation of endocytosis and intracellular trafficking of G-protein-coupled receptors (GPCRs); enhances internalization and recycling of mu-type opioid receptor. NA Belongs to the myelin proteolipid protein family. NA PE1 4 +NX_P51677 C-C chemokine receptor type 3 355 41044 8.49 7 Cell membrane NA Receptor for a C-C type chemokine. Binds to eotaxin, eotaxin-3, MCP-3, MCP-4, RANTES and MIP-1 delta. Subsequently transduces a signal by increasing the intracellular calcium ions level. Alternative coreceptor with CD4 for HIV-1 infection. NA Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 3 +NX_P51679 C-C chemokine receptor type 4 360 41403 7.47 7 Cell membrane NA High affinity receptor for the C-C type chemokines CCL17/TARC, CCL22/MDC and CKLF isoform 1/CKLF1. The activity of this receptor is mediated by G(i) proteins which activate a phosphatidylinositol-calcium second messenger system. Can function as a chemoattractant homing receptor on circulating memory lymphocytes and as a coreceptor for some primary HIV-2 isolates. In the CNS, could mediate hippocampal-neuron survival. In natural killer cells, CCL22 binding induces phosphorylation on yet undefined Ser/Thr residues, most probably by beta-adrenergic receptor kinases 1 and 2. Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 3 +NX_P51681 C-C chemokine receptor type 5 352 40524 9.21 7 Cell membrane Diabetes mellitus, insulin-dependent, 22 (Microbial infection) Acts as a coreceptor (CD4 being the primary receptor) of human immunodeficiency virus-1/HIV-1.;Receptor for a number of inflammatory CC-chemokines including CCL3/MIP-1-alpha, CCL4/MIP-1-beta and RANTES and subsequently transduces a signal by increasing the intracellular calcium ion level. May play a role in the control of granulocytic lineage proliferation or differentiation. Sulfated on at least 2 of the N-terminal tyrosines. Sulfation contributes to the efficiency of HIV-1 entry and is required for efficient binding of the chemokines, CCL3 and CCL4.;Palmitoylation in the C-terminal is important for cell surface expression, and to a lesser extent, for HIV entry.;Phosphorylation on serine residues in the C-terminal is stimulated by binding CC chemokines especially by APO-RANTES.;O-glycosylated, but not N-glycosylated. Ser-6 appears to be the major site. Also sialylated glycans present which contribute to chemokine binding. Thr-16 and Ser-17 may also be glycosylated and, if so, with small moieties such as a T-antigen. Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Endocytosis;Toxoplasmosis;G alpha (i) signalling events;Chemokine receptors bind chemokines;Binding and entry of HIV virion;Interleukin-10 signaling PE1 3 +NX_P51684 C-C chemokine receptor type 6 374 42494 9.23 7 Cell surface;Cell membrane NA Receptor for the C-C type chemokine CCL20 (PubMed:9169459). Binds to CCL20 and subsequently transduces a signal by increasing the intracellular calcium ion levels (PubMed:20068036). Although CCL20 is its major ligand it can also act as a receptor for non-chemokine ligands such as beta-defensins (PubMed:25585877). Binds to defensin DEFB1 leading to increase in intracellular calcium ions and cAMP levels. Its binding to DEFB1 is essential for the function of DEFB1 in regulating sperm motility and bactericidal activity (PubMed:25122636). Binds to defensins DEFB4 and DEFB4A/B and mediates their chemotactic effects (PubMed:20068036). The ligand-receptor pair CCL20-CCR6 is responsible for the chemotaxis of dendritic cells (DC), effector/ memory T-cells and B-cells and plays an important role at skin and mucosal surfaces under homeostatic and inflammatory conditions, as well as in pathology, including cancer and various autoimmune diseases. CCR6-mediated signals are essential for immune responses to microbes in the intestinal mucosa and in the modulation of inflammatory responses initiated by tissue insult and trauma (PubMed:21376174). CCR6 is essential for the recruitment of both the proinflammatory IL17 producing helper T-cells (Th17) and the regulatory T-cells (Treg) to sites of inflammation. Required for the normal migration of Th17 cells in Peyers-patches and other related tissue sites of the intestine and plays a role in regulating effector T-cell balance and distribution in inflamed intestine. Plays an important role in the coordination of early thymocyte precursor migration events important for normal subsequent thymocyte precursor development, but is not required for the formation of normal thymic natural regulatory T-cells (nTregs). Required for optimal differentiation of DN2 and DN3 thymocyte precursors. Essential for B-cell localization in the subepithelial dome of Peyers-patches and for efficient B-cell isotype switching to IgA in the Peyers-patches. Essential for appropriate anatomical distribution of memory B-cells in the spleen and for the secondary recall response of memory B-cells (By similarity). Positively regulates sperm motility and chemotaxis via its binding to CCL20 (PubMed:23765988). NA Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines;Beta defensins PE1 6 +NX_P51685 C-C chemokine receptor type 8 355 40844 8.66 7 Cell membrane NA Receptor for the chemokine CCL1/SCYA1/I-309. May regulate monocyte chemotaxis and thymic cell line apoptosis. Alternative coreceptor with CD4 for HIV-1 infection. NA Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 3 +NX_P51686 C-C chemokine receptor type 9 369 42016 8.54 7 Cell membrane NA Receptor for chemokine SCYA25/TECK. Subsequently transduces a signal by increasing the intracellular calcium ions level.;(Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection. NA Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Intestinal immune network for IgA production;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 3 +NX_P51687 Sulfite oxidase, mitochondrial 545 60283 5.72 0 Mitochondrion intermembrane space Sulfite oxidase deficiency, isolated NA NA NA Energy metabolism; sulfur metabolism.;Sulfur metabolism;Sulfide oxidation to sulfate PE1 12 +NX_P51688 N-sulphoglucosamine sulphohydrolase 502 56695 6.46 0 Lysosome Mucopolysaccharidosis 3A Catalyzes a step in lysosomal heparan sulfate degradation. The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. Belongs to the sulfatase family. Glycosaminoglycan degradation;Metabolic pathways;Lysosome;HS-GAG degradation;MPS IIIA - Sanfilippo syndrome A PE1 17 +NX_P51689 Arylsulfatase D 593 64860 6.78 0 Cytoplasmic vesicle;Lipid droplet;Lysosome NA NA The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. Belongs to the sulfatase family. Glycosphingolipid metabolism;The activation of arylsulfatases PE1 X +NX_P51690 Arylsulfatase E 589 65669 6.48 0 Golgi apparatus;Golgi stack Chondrodysplasia punctata 1, X-linked recessive May be essential for the correct composition of cartilage and bone matrix during development. Has no activity toward steroid sulfates. N-glycosylated.;The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. Belongs to the sulfatase family. Glycosphingolipid metabolism;The activation of arylsulfatases PE1 X +NX_P51692 Signal transducer and activator of transcription 5B 787 89866 5.71 0 Cytoplasm;Nucleus Growth hormone insensitivity with immunodeficiency Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS element and activates PRL-induced transcription. Positively regulates hematopoietic/erythroid differentiation. Tyrosine phosphorylated in response to signaling via activated KIT, resulting in translocation to the nucleus. Tyrosine phosphorylated in response to signaling via activated FLT3; wild-type FLT3 results in much weaker phosphorylation than constitutively activated mutant FLT3. Alternatively, can be phosphorylated by JAK2. Phosphorylation at Tyr-699 by PTK6 or HCK leads to an increase of its transcriptional activity. Belongs to the transcription factor STAT family. ErbB signaling pathway;Chemokine signaling pathway;Jak-STAT signaling pathway;Measles;HTLV-I infection;Pathways in cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Interleukin-7 signaling;Prolactin receptor signaling;Growth hormone receptor signaling;Signaling by SCF-KIT;Signaling by cytosolic FGFR1 fusion mutants;Interleukin-3, Interleukin-5 and GM-CSF signaling;Signaling by Leptin;Downstream signal transduction;Interleukin-20 family signaling;Interleukin-15 signaling;Interleukin-9 signaling;Interleukin-2 signaling;Interleukin-21 signaling;Erythropoietin activates STAT5;STAT5 Activation PE1 17 +NX_P51693 Amyloid-like protein 1 650 72176 5.54 1 Cytoplasm;Cell membrane NA May play a role in postsynaptic function. The C-terminal gamma-secretase processed fragment, ALID1, activates transcription activation through APBB1 (Fe65) binding (By similarity). Couples to JIP signal transduction through C-terminal binding. May interact with cellular G-protein signaling pathways. Can regulate neurite outgrowth through binding to components of the extracellular matrix such as heparin and collagen I.;The gamma-CTF peptide, C30, is a potent enhancer of neuronal apoptosis. Proteolytically cleaved by caspases during neuronal apoptosis. Cleaved, in vitro, at Asp-620 by caspase-3 (By similarity).;N- and O-glycosylated. O-glycosylation with core 1 or possibly core 8 glycans. Glycosylation on Ser-227 is the preferred site to Thr-228. Belongs to the APP family. NA PE1 19 +NX_P51784 Ubiquitin carboxyl-terminal hydrolase 11 963 109817 5.28 0 Cytoplasm;Nucleoplasm;Nucleus;Chromosome NA Protease that can remove conjugated ubiquitin from target proteins and polyubiquitin chains (PubMed:12084015, PubMed:15314155, PubMed:17897950, PubMed:19874889, PubMed:20233726, PubMed:24724799). Inhibits the degradation of target proteins by the proteasome (PubMed:12084015). Cleaves preferentially 'Lys-6' and 'Lys-63'-linked ubiquitin chains. Has lower activity with 'Lys-11' and 'Lys-33'-linked ubiquitin chains, and extremely low activity with 'Lys-27', 'Lys-29' and 'Lys-48'-linked ubiquitin chains (in vitro) (PubMed:24724799). Plays a role in the regulation of pathways leading to NF-kappa-B activation (PubMed:17897950, PubMed:19874889). Plays a role in the regulation of DNA repair after double-stranded DNA breaks (PubMed:15314155, PubMed:20233726). Acts as a chromatin regulator via its association with the Polycomb group (PcG) multiprotein PRC1-like complex; may act by deubiquitinating components of the PRC1-like complex (PubMed:20601937). NA Belongs to the peptidase C19 family. Association of TriC/CCT with target proteins during biosynthesis;Ub-specific processing proteases PE1 X +NX_P51786 Zinc finger protein 157 506 58291 8.83 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 X +NX_P51787 Potassium voltage-gated channel subfamily KQT member 1 676 74699 9.88 6 Cell membrane;Basolateral cell membrane;Early endosome;Endoplasmic reticulum;Cytoplasmic vesicle membrane;Membrane raft Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1;Diabetes mellitus, non-insulin-dependent;Short QT syndrome 2;Atrial fibrillation, familial, 3 Non-functional alone but modulatory when coexpressed with the full-length isoform 1.;Potassium channel that plays an important role in a number of tissues, including heart, inner ear, stomach and colon (By similarity) (PubMed:10646604). Associates with KCNE beta subunits that modulates current kinetics (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505, PubMed:19687231). Induces a voltage-dependent by rapidly activating and slowly deactivating potassium-selective outward current (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Promotes also a delayed voltage activated potassium current showing outward rectification characteristic (By similarity). During beta-adrenergic receptor stimulation participates in cardiac repolarization by associating with KCNE1 to form the I(Ks) cardiac potassium current that increases the amplitude and slows down the activation kinetics of outward potassium current I(Ks) (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current (PubMed:10713961). When associated with KCNE3, forms the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions (PubMed:10646604). This interaction with KCNE3 is reduced by 17beta-estradiol, resulting in the reduction of currents (By similarity). During conditions of increased substrate load, maintains the driving force for proximal tubular and intestinal sodium ions absorption, gastric acid secretion, and cAMP-induced jejunal chloride ions secretion (By similarity). Allows the provision of potassium ions to the luminal membrane of the secretory canaliculus in the resting state as well as during stimulated acid secretion (By similarity). When associated with KCNE2, forms a heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505). When associated with KCNE4, inhibits voltage-gated potassium channel activity (PubMed:19687231). When associated with KCNE5, this complex only conducts current upon strong and continued depolarization (PubMed:12324418). Also forms a heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (PubMed:24855057). Binds with phosphatidylinositol 4,5-bisphosphate (PubMed:25037568). Deubiquitinated by USP2; counteracts the NEDD4L-specific down-regulation of I(Ks) and restores the membrane localization.;Ubiquitinated by NEDD4L; promotes internalization (PubMed:22024150). The ubiquitinylated form is internalized through a clathrin-mediated endocytosis by interacting with AP2M1 and is recycled back to the cell membrane via RAB4A and RAB11A (PubMed:23529131).;Phosphorylation at Ser-27 by PKA; increases delayed rectifier potassium channel activity of the KCNQ1-KCNE1 complex through a macromolecular complex that includes PKA, PP1, and the targeting protein AKAP9. Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.1/KCNQ1 sub-subfamily. Cholinergic synapse;Gastric acid secretion;Pancreatic secretion;Protein digestion and absorption;Vibrio cholerae infection;Voltage gated Potassium channels;Phase 3 - rapid repolarisation;Phase 2 - plateau phase PE1 11 +NX_P51788 Chloride channel protein 2 898 98535 8.7 10 Cytosol;Cell membrane Juvenile myoclonic epilepsy 8;Juvenile absence epilepsy 2;Epilepsy, idiopathic generalized 11;Hyperaldosteronism, familial, 2;Leukoencephalopathy with ataxia Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. Involved in the regulation of aldosterone production. The opening of CLCN2 channels at hyperpolarized membrane potentials in the glomerulosa causes cell membrane depolarization, activation of voltage-gated Ca2+ channels and increased expression of aldosterone synthase, the rate-limiting enzyme for aldosterone biosynthesis (PubMed:29403011, PubMed:29403012). Phosphorylated. Activated by dephosphorylation. Belongs to the chloride channel (TC 2.A.49) family. ClC-2/CLCN2 subfamily. Mineral absorption;Stimuli-sensing channels PE1 3 +NX_P51790 H(+)/Cl(-) exchange transporter 3 818 90966 5.88 10 Endoplasmic reticulum;Secretory vesicle membrane;Golgi apparatus membrane;Early endosome membrane;Cytoplasmic vesicle;Late endosome membrane NA Mediates the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the endosome and synaptic vesicle lumen, and may thereby affect vesicle trafficking and exocytosis. May play an important role in neuronal cell function through regulation of membrane excitability by protein kinase C. It could help neuronal cells to establish short-term memory. N-glycosylated. Belongs to the chloride channel (TC 2.A.49) family. ClC-3/CLCN3 subfamily. Stimuli-sensing channels PE1 4 +NX_P51793 H(+)/Cl(-) exchange transporter 4 760 84917 6.43 10 Early endosome membrane;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Late endosome membrane Raynaud-Claes syndrome Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. NA Belongs to the chloride channel (TC 2.A.49) family. ClC-4/CLCN4 subfamily. Stimuli-sensing channels PE1 X +NX_P51795 H(+)/Cl(-) exchange transporter 5 746 83147 6.37 10 Golgi apparatus;Cell membrane;Endosome membrane;Golgi apparatus membrane;Cytosol Nephrolithiasis 2;Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis;Nephrolithiasis 1;Hypophosphatemic rickets, X-linked recessive Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function. Ubiquitinated by NEDD4L in the presence of albumin; which promotes endocytosis and proteasomal degradation. Belongs to the chloride channel (TC 2.A.49) family. ClC-5/CLCN5 subfamily. Stimuli-sensing channels PE1 X +NX_P51797 Chloride transport protein 6 869 97289 6.39 10 Cytosol;Endosome membrane;Cell membrane NA Chloride transport protein, initially identified as voltage-gated chloride channel. The presence of the conserved gating glutamate residues suggests that is functions as antiporter. N-glycosylated on several asparagine residues. Belongs to the chloride channel (TC 2.A.49) family. ClC-6/CLCN6 subfamily. Stimuli-sensing channels;Signaling by BRAF and RAF fusions PE1 1 +NX_P51798 H(+)/Cl(-) exchange transporter 7 805 88679 8.66 10 Nucleoplasm;Lysosome membrane Osteopetrosis, autosomal recessive 4;Osteopetrosis, autosomal dominant 2 Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen. NA Belongs to the chloride channel (TC 2.A.49) family. ClC-7/CLCN7 subfamily. Stimuli-sensing channels PE1 16 +NX_P51800 Chloride channel protein ClC-Ka 687 75285 7.62 10 Membrane Bartter syndrome 4B, neonatal, with sensorineural deafness Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms. NA Belongs to the chloride channel (TC 2.A.49) family. CLCNKA subfamily. Stimuli-sensing channels PE1 1 +NX_P51801 Chloride channel protein ClC-Kb 687 75446 8.2 10 Cell membrane Bartter syndrome 4B, neonatal, with sensorineural deafness;Bartter syndrome 3 Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms. NA Belongs to the chloride channel (TC 2.A.49) family. CLCNKB subfamily. Collecting duct acid secretion;Stimuli-sensing channels PE1 1 +NX_P51805 Plexin-A3 1871 207703 7.06 1 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA Coreceptor for SEMA3A and SEMA3F. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance in the developing nervous system. Regulates the migration of sympathetic neurons, but not of neural crest precursors. Required for normal dendrite spine morphology in pyramidal neurons. May play a role in regulating semaphorin-mediated programmed cell death in the developing nervous system. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm. NA Belongs to the plexin family. Axon guidance;SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion;Sema3A PAK dependent Axon repulsion;CRMPs in Sema3A signaling PE1 X +NX_P51808 Dynein light chain Tctex-type 3 116 13062 5.37 0 Nucleus;Kinetochore;Cytoskeleton NA Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Probably binds BUB3 as part of transport cargo. Required for the efficient progression through mitosis (By similarity). NA Belongs to the dynein light chain Tctex-type family. NA PE1 X +NX_P51809 Vesicle-associated membrane protein 7 220 24935 8.86 1 Endoplasmic reticulum membrane;Synaptosome;Phagosome membrane;Lysosome membrane;trans-Golgi network membrane;Secretory vesicle membrane;Cytoplasmic vesicle;Late endosome membrane NA Involved in the targeting and/or fusion of transport vesicles to their target membrane during transport of proteins from the early endosome to the lysosome. Required for heterotypic fusion of late endosomes with lysosomes and homotypic lysosomal fusion. Required for calcium regulated lysosomal exocytosis. Involved in the export of chylomicrons from the endoplasmic reticulum to the cis Golgi. Required for exocytosis of mediators during eosinophil and neutrophil degranulation, and target cell killing by natural killer cells. Required for focal exocytosis of late endocytic vesicles during phagosome formation. NA Belongs to the synaptobrevin family. SNARE interactions in vesicular transport;Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Interleukin-12 signaling;trans-Golgi Network Vesicle Budding PE1 X +NX_P51810 G-protein coupled receptor 143 404 43878 7.53 7 Apical cell membrane;Lysosome membrane;Melanosome membrane Nystagmus congenital X-linked 6;Albinism ocular 1 Receptor for tyrosine, L-DOPA and dopamine. After binding to L-DOPA, stimulates Ca(2+) influx into the cytoplasm, increases secretion of the neurotrophic factor SERPINF1 and relocalizes beta arrestin at the plasma membrane; this ligand-dependent signaling occurs through a G(q)-mediated pathway in melanocytic cells. Its activity is mediated by G proteins which activate the phosphoinositide signaling pathway. Plays also a role as an intracellular G protein-coupled receptor involved in melanosome biogenesis, organization and transport. Phosphorylated.;Glycosylated. Belongs to the G-protein coupled receptor OA family. G alpha (q) signalling events;Amine ligand-binding receptors PE1 X +NX_P51811 Membrane transport protein XK 444 50902 8.6 10 Membrane;Nucleoplasm;Mitochondrion;Cytoplasmic vesicle McLeod syndrome May be involved in sodium-dependent transport of neutral amino acids or oligopeptides. Not glycosylated. Belongs to the XK family. Peptide ligand-binding receptors PE1 X +NX_P51812 Ribosomal protein S6 kinase alpha-3 740 83736 6.41 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus Coffin-Lowry syndrome;Mental retardation, X-linked 19 Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77, regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and differentiation by modulating mTOR signaling and repressing pro-apoptotic function of BAD and DAPK1. In fibroblast, is required for EGF-stimulated phosphorylation of CREB1 and histone H3 at 'Ser-10', which results in the subsequent transcriptional activation of several immediate-early genes. In response to mitogenic stimulation (EGF and PMA), phosphorylates and activates NR4A1/NUR77 and ETV1/ER81 transcription factors and the cofactor CREBBP. Upon insulin-derived signal, acts indirectly on the transcription regulation of several genes by phosphorylating GSK3B at 'Ser-9' and inhibiting its activity. Phosphorylates RPS6 in response to serum or EGF via an mTOR-independent mechanism and promotes translation initiation by facilitating assembly of the preinitiation complex. In response to insulin, phosphorylates EIF4B, enhancing EIF4B affinity for the EIF3 complex and stimulating cap-dependent translation. Is involved in the mTOR nutrient-sensing pathway by directly phosphorylating TSC2 at 'Ser-1798', which potently inhibits TSC2 ability to suppress mTOR signaling, and mediates phosphorylation of RPTOR, which regulates mTORC1 activity and may promote rapamycin-sensitive signaling independently of the PI3K/AKT pathway. Mediates cell survival by phosphorylating the pro-apoptotic proteins BAD and DAPK1 and suppressing their pro-apoptotic function. Promotes the survival of hepatic stellate cells by phosphorylating CEBPB in response to the hepatotoxin carbon tetrachloride (CCl4). Is involved in cell cycle regulation by phosphorylating the CDK inhibitor CDKN1B, which promotes CDKN1B association with 14-3-3 proteins and prevents its translocation to the nucleus and inhibition of G1 progression. In LPS-stimulated dendritic cells, is involved in TLR4-induced macropinocytosis, and in myeloma cells, acts as effector of FGFR3-mediated transformation signaling, after direct phosphorylation at Tyr-529 by FGFR3. Negatively regulates EGF-induced MAPK1/3 phosphorylation via phosphorylation of SOS1. Phosphorylates SOS1 at 'Ser-1134' and 'Ser-1161' that create YWHAB and YWHAE binding sites and which contribute to the negative regulation of MAPK1/3 phosphorylation (By similarity). Phosphorylates EPHA2 at 'Ser-897', the RPS6KA-EPHA2 signaling pathway controls cell migration (PubMed:26158630). N-terminal myristoylation results in an activated kinase in the absence of added growth factors.;Activated by phosphorylation at Ser-227 by PDPK1. Autophosphorylated on Ser-386, as part of the activation process. May be phosphorylated at Thr-365 and Ser-369 by MAPK1/ERK2 and MAPK3/ERK1. Can also be activated via phosphorylation at Ser-386 by MAPKAPK2. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily. MAPK signaling pathway;Oocyte meiosis;mTOR signaling pathway;Long-term potentiation;Neurotrophin signaling pathway;Progesterone-mediated oocyte maturation;Senescence-Associated Secretory Phenotype (SASP);Recycling pathway of L1;CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling;RSK activation;Gastrin-CREB signalling pathway via PKC and MAPK;ERK/MAPK targets;CREB phosphorylation PE1 X +NX_P51813 Cytoplasmic tyrosine-protein kinase BMX 675 78011 8.7 0 Cytoplasm;Nucleoplasm;Cell membrane NA Non-receptor tyrosine kinase that plays central but diverse modulatory roles in various signaling processes involved in the regulation of actin reorganization, cell migration, cell proliferation and survival, cell adhesion, and apoptosis. Participates in signal transduction stimulated by growth factor receptors, cytokine receptors, G-protein coupled receptors, antigen receptors and integrins. Induces tyrosine phosphorylation of BCAR1 in response to integrin regulation. Activation of BMX by integrins is mediated by PTK2/FAK1, a key mediator of integrin signaling events leading to the regulation of actin cytoskeleton and cell motility. Plays a critical role in TNF-induced angiogenesis, and implicated in the signaling of TEK and FLT1 receptors, 2 important receptor families essential for angiogenesis. Required for the phosphorylation and activation of STAT3, a transcription factor involved in cell differentiation. Also involved in interleukin-6 (IL6) induced differentiation. Plays also a role in programming adaptive cytoprotection against extracellular stress in different cell systems, salivary epithelial cells, brain endothelial cells, and dermal fibroblasts. May be involved in regulation of endocytosis through its interaction with an endosomal protein RUFY1. May also play a role in the growth and differentiation of hematopoietic cells; as well as in signal transduction in endocardial and arterial endothelial cells. Phosphorylated in response to protein I/II and to LPS. Phosphorylation at Tyr-566 by SRC and by autocatalysis leads to activation and is required for STAT3 phosphorylation by BMX.;BMX is phosphorylated by KDR (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily. Synthesis of PIPs at the plasma membrane;Apoptotic cleavage of cellular proteins PE1 X +NX_P51814 Zinc finger protein 41 821 93728 9.06 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 X +NX_P51815 Zinc finger protein 75D 510 59298 9.35 0 Golgi apparatus;Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 X +NX_P51816 AF4/FMR2 family member 2 1311 144771 8.23 0 Nucleus speckle Mental retardation, X-linked, associated with fragile site FRAXE RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure. NA Belongs to the AF4 family. NA PE1 X +NX_P51817 cAMP-dependent protein kinase catalytic subunit PRKX 358 40896 6.37 0 Nucleoplasm;Cytoplasm;Nucleus NA Serine/threonine protein kinase regulated by and mediating cAMP signaling in cells. Acts through phosphorylation of downstream targets that may include CREB, SMAD6 and PKD1 and has multiple functions in cellular differentiation and epithelial morphogenesis. Regulates myeloid cell differentiation through SMAD6 phosphorylation. Involved in nephrogenesis by stimulating renal epithelial cell migration and tubulogenesis. Also involved in angiogenesis through stimulation of endothelial cell proliferation, migration and vascular-like structure formation. Phosphorylated; autophosphorylates in vitro. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. cAMP subfamily. MAPK signaling pathway;Calcium signaling pathway;Chemokine signaling pathway;Oocyte meiosis;Apoptosis;Vascular smooth muscle contraction;Wnt signaling pathway;Hedgehog signaling pathway;Gap junction;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Olfactory transduction;Taste transduction;Insulin signaling pathway;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;PKA-mediated phosphorylation of CREB;CREB1 phosphorylation through the activation of Adenylate Cyclase PE1 X +NX_P51825 AF4/FMR2 family member 1 1210 131422 9.26 0 Nucleoplasm;Mitochondrion;Nucleus NA NA NA Belongs to the AF4 family. NA PE1 4 +NX_P51826 AF4/FMR2 family member 3 1226 133503 8.35 0 Nucleoplasm;Cytosol;Nucleus NA Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA. NA Belongs to the AF4 family. NA PE1 2 +NX_P51828 Adenylate cyclase type 7 1080 120308 8.49 12 Membrane;Cytosol NA Catalyzes the formation of cAMP in response to activation of G protein-coupled receptors (Probable). Functions in signaling cascades activated namely by thrombin and sphingosine 1-phosphate and mediates regulation of cAMP synthesis through synergistic action of the stimulatory G alpha protein with GNA13 (PubMed:23229509, PubMed:18541530). Also, during inflammation, mediates zymosan-induced increase intracellular cAMP, leading to protein kinase A pathway activation in order to modulate innate immune responses through heterotrimeric G proteins G(12/13) (By similarity). Functions in signaling cascades activated namely by dopamine and C5 alpha chain and mediates regulation of cAMP synthesis through synergistic action of the stimulatory G protein with G beta:gamma complex (PubMed:23842570, PubMed:23229509). Functions, through cAMP response regulation, to keep inflammation under control during bacterial infection by sensing the presence of serum factors, such as the bioactive lysophospholipid (LPA) that regulate LPS-induced TNF-alpha production. However, it is also required for the optimal functions of B and T cells during adaptive immune responses by regulating cAMP synthesis in both B and T cells (By similarity). Phosphorylated by PRKCD. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Calcium signaling pathway;Chemokine signaling pathway;Oocyte meiosis;Vascular smooth muscle contraction;Gap junction;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Bile secretion;HTLV-I infection;Dilated cardiomyopathy;G alpha (i) signalling events;G alpha (s) signalling events;Hedgehog 'off' state;PKA activation;PKA activation in glucagon signalling;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G alpha (z) signalling events;Adenylate cyclase activating pathway;Adenylate cyclase inhibitory pathway PE1 16 +NX_P51841 Retinal guanylyl cyclase 2 1108 124850 6.87 1 Photoreceptor outer segment membrane NA Responsible for the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors (PubMed:7777544). Plays an essential role in phototransduction, by mediating cGMP replenishment (By similarity). May also participate in the trafficking of membrane-asociated proteins to the photoreceptor outer segment membrane (By similarity). There are 9 conserved cysteine residues in sensory guanylate cyclases, 6 in the extracellular domain, which may be involved in intra- or interchain disulfide bonds. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Phototransduction;Inactivation, recovery and regulation of the phototransduction cascade PE1 X +NX_P51843 Nuclear receptor subfamily 0 group B member 1 470 51718 8.47 0 Cytoplasm;Nucleus speckle;Centriolar satellite;Cytoplasmic vesicle;Nucleus 46,XY sex reversal 2;Adrenal hypoplasia, congenital Orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity). NA Belongs to the nuclear hormone receptor family. NR0 subfamily. Nuclear Receptor transcription pathway PE1 X +NX_P51854 Transketolase-like protein 1 596 65333 5.56 0 Cytoplasm;Cytosol;Nucleus NA Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate. NA Belongs to the transketolase family. Pentose phosphate pathway;Metabolic pathways PE1 X +NX_P51857 Aldo-keto reductase family 1 member D1 326 37377 7.14 0 Cytoplasm;Nucleoplasm;Cytosol Congenital bile acid synthesis defect 2 Catalyzes the stereospecific NADPH-dependent reduction of the C4-C5 double bond of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure to yield an A/B cis-ring junction. This cis-configuration is crucial for bile acid biosynthesis and plays important roles in steroid metabolism. Capable of reducing a broad range of delta-(4)-3-ketosteroids from C18 (such as, 17beta-hydroxyestr-4-en-3-one) to C27 (such as, 7alpha-hydroxycholest-4-en-3-one). NA Belongs to the aldo/keto reductase family. Primary bile acid biosynthesis;Steroid hormone biosynthesis;Metabolic pathways;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 24-hydroxycholesterol;Synthesis of bile acids and bile salts via 27-hydroxycholesterol PE1 7 +NX_P51858 Hepatoma-derived growth factor 240 26788 4.7 0 Extracellular exosome;Cytoplasm;Nucleoplasm;Nucleus NA Acts as a transcriptional repressor (PubMed:17974029). Has mitogenic activity for fibroblasts (PubMed:11751870, PubMed:26845719). Heparin-binding protein (PubMed:15491618).;Does not have mitogenic activity for fibroblasts (PubMed:26845719). Does not bind heparin (PubMed:26845719).;Has mitogenic activity for fibroblasts (PubMed:26845719). Heparin-binding protein (PubMed:26845719). Sumoylated with SUMO1. Sumoylation prevents binding to chromatin.;Phosphorylation at Ser-165 is likely to be required for secretion. Belongs to the HDGF family. XBP1(S) activates chaperone genes PE1 1 +NX_P51861 Cerebellar degeneration-related antigen 1 262 31279 4.35 0 Golgi apparatus;Nucleoplasm;Centrosome NA NA NA NA NA PE1 X +NX_P51864 Putative teratocarcinoma-derived growth factor 3 188 21181 8.2 0 Cell membrane NA Could play a role in the determination of the epiblastic cells that subsequently give rise to the mesoderm. Activates the Nodal-dependent signaling pathway. NA Belongs to the EGF-CFC (Cripto-1/FRL1/Cryptic) family. Signaling by NODAL;Regulation of signaling by NODAL PE5 X +NX_P51878 Caspase-5 434 49736 9.28 0 NA NA Mediator of programmed cell death (apoptosis). During non-canonical inflammasome activation, cuts CGAS and may play a role in the regulation of antiviral innate immune activation (PubMed:28314590). The two subunits are derived from the precursor sequence by an autocatalytic mechanism. Belongs to the peptidase C14A family. NOD-like receptor signaling pathway PE1 11 +NX_P51884 Lumican 338 38429 6.16 0 Extracellular matrix NA NA Sulfated on tyrosine residue(s). Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily. Keratan sulfate biosynthesis;Defective CHST6 causes MCDC1;Keratan sulfate degradation;Defective B4GALT1 causes B4GALT1-CDG (CDG-2d);Integrin cell surface interactions;ECM proteoglycans;Defective ST3GAL3 causes MCT12 and EIEE15 PE1 12 +NX_P51888 Prolargin 382 43810 9.47 0 Extracellular matrix NA May anchor basement membranes to the underlying connective tissue. NA Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily. Keratan sulfate biosynthesis;Defective CHST6 causes MCDC1;Keratan sulfate degradation;Defective B4GALT1 causes B4GALT1-CDG (CDG-2d);Defective ST3GAL3 causes MCT12 and EIEE15 PE1 1 +NX_P51911 Calponin-1 297 33170 9.14 0 Cytoskeleton NA Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity (By similarity). NA Belongs to the calponin family. NA PE1 19 +NX_P51946 Cyclin-H 323 37643 6.73 0 Nucleoplasm;Nucleus NA Regulates CDK7, the catalytic subunit of the CDK-activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II. Its expression and activity are constant throughout the cell cycle. NA Belongs to the cyclin family. Cyclin C subfamily. Basal transcription factors;Nucleotide excision repair;Cell cycle;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Tat-mediated elongation of the HIV-1 transcript;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;Cyclin E associated events during G1/S transition;Cyclin A/B1/B2 associated events during G2/M transition;Cyclin A:Cdk2-associated events at S phase entry;Cyclin D associated events in G1;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Formation of Incision Complex in GG-NER;TP53 Regulates Transcription of DNA Repair Genes;RUNX1 regulates transcription of genes involved in differentiation of HSCs PE1 5 +NX_P51948 CDK-activating kinase assembly factor MAT1 309 35823 5.79 0 Nucleoplasm;Nucleus NA Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II. NA NA Basal transcription factors;Nucleotide excision repair;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Tat-mediated elongation of the HIV-1 transcript;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;Cyclin E associated events during G1/S transition;Cyclin A/B1/B2 associated events during G2/M transition;Cyclin A:Cdk2-associated events at S phase entry;Cyclin D associated events in G1;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Formation of Incision Complex in GG-NER;TP53 Regulates Transcription of DNA Repair Genes;RUNX1 regulates transcription of genes involved in differentiation of HSCs PE1 14 +NX_P51955 Serine/threonine-protein kinase Nek2 445 51763 9.03 0 Cytoplasm;Nucleolus;Nucleoplasm;Centromere;Spindle pole;Centrosome;Nucleus;Kinetochore Retinitis pigmentosa 67 Not present in the nucleolus and, in contrast to isoform 1, does not phosphorylate and activate NEK11 in G1/S-arrested cells.;Phosphorylates and activates NEK11 in G1/S-arrested cells.;Protein kinase which is involved in the control of centrosome separation and bipolar spindle formation in mitotic cells and chromatin condensation in meiotic cells. Regulates centrosome separation (essential for the formation of bipolar spindles and high-fidelity chromosome separation) by phosphorylating centrosomal proteins such as CROCC, CEP250 and NINL, resulting in their displacement from the centrosomes. Regulates kinetochore microtubule attachment stability in mitosis via phosphorylation of NDC80. Involved in regulation of mitotic checkpoint protein complex via phosphorylation of CDC20 and MAD2L1. Plays an active role in chromatin condensation during the first meiotic division through phosphorylation of HMGA2. Phosphorylates: PPP1CC; SGO1; NECAB3 and NPM1. Essential for localization of MAD2L1 to kinetochore and MAPK1 and NPM1 to the centrosome. Phosphorylates CEP68 and CNTLN directly or indirectly (PubMed:24554434). NEK2-mediated phosphorylation of CEP68 promotes CEP68 dissociation from the centrosome and its degradation at the onset of mitosis (PubMed:25704143). Involved in the regulation of centrosome disjunction (PubMed:26220856). Activated by autophosphorylation. Protein phosphatase 1 represses autophosphorylation and activation of isoform 1 by dephosphorylation. Phosphorylation by STK3/MST2 is necessary for its localization to the centrosome.;NEK2 is phosphorylated by RPS6KA3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);NEK2 is phosphorylated by PLK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;APC-Cdc20 mediated degradation of Nek2A;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 1 +NX_P51956 Serine/threonine-protein kinase Nek3 506 57705 6.72 0 Cytoplasm;Axon;Cytoskeleton NA Protein kinase which influences neuronal morphogenesis and polarity through effects on microtubules. Regulates microtubule acetylation in neurons. Contributes to prolactin-mediated phosphorylation of PXN and VAV2. Implicated in prolactin-mediated cytoskeletal reorganization and motility of breast cancer cells through mechanisms involving RAC1 activation and phosphorylation of PXN and VAV2. Phosphorylation at Thr-479 regulates its catalytic activity. Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. NA PE1 13 +NX_P51957 Serine/threonine-protein kinase Nek4 841 94597 8.04 0 Cytoplasm;Cytosol;Cilium NA Protein kinase that seems to act exclusively upon threonine residues (By similarity). Required for normal entry into proliferative arrest after a limited number of cell divisions, also called replicative senescence. Required for normal cell cycle arrest in response to double-stranded DNA damage. NA Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. NA PE1 3 +NX_P51959 Cyclin-G1 295 34074 9.06 0 Nucleoplasm;Nucleus NA May play a role in growth regulation. Is associated with G2/M phase arrest in response to DNA damage. May be an intermediate by which p53 mediates its role as an inhibitor of cellular proliferation (By similarity). NA Belongs to the cyclin family. Cyclin G subfamily. p53 signaling pathway;Regulation of TP53 Degradation PE1 5 +NX_P51965 Ubiquitin-conjugating enzyme E2 E1 193 21404 8.77 0 Nucleoplasm;Nucleus NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes the covalent attachment of ISG15 to other proteins. Mediates the selective degradation of short-lived and abnormal proteins. In vitro also catalyzes 'Lys-48'-linked polyubiquitination. ISGylation suppresses ubiquitin E2 enzyme activity.;Autoubiquitinated in vitro. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;CDK-mediated phosphorylation and removal of Cdc6;Antigen processing: Ubiquitination & Proteasome degradation;ISG15 antiviral mechanism;Senescence-Associated Secretory Phenotype (SASP);Autodegradation of Cdh1 by Cdh1:APC/C;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of Cyclin B;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;APC/C:Cdc20 mediated degradation of mitotic proteins;Phosphorylation of the APC/C;APC-Cdc20 mediated degradation of Nek2A;Synthesis of active ubiquitin: roles of E1 and E2 enzymes;E3 ubiquitin ligases ubiquitinate target proteins PE1 3 +NX_P51970 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 172 20105 7.58 0 Mitochondrion intermembrane space;Mitochondrion inner membrane;Mitochondrion NA Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. May contain intrachain disulfide bonds, as evidenced by its electrophoretic mobility under reducing vs non-reducing conditions. Belongs to the complex I NDUFA8 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 9 +NX_P51991 Heterogeneous nuclear ribonucleoprotein A3 378 39595 9.1 0 Nucleus NA Plays a role in cytoplasmic trafficking of RNA. Binds to the cis-acting response element, A2RE. May be involved in pre-mRNA splicing. NA NA Spliceosome;mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA PE1 2 +NX_P51993 Alpha-(1,3)-fucosyltransferase 6 359 41860 8.92 1 Golgi stack membrane;Golgi apparatus NA Enzyme involved in the biosynthesis of the E-Selectin ligand, sialyl-Lewis X. Catalyzes the transfer of fucose from GDP-beta-fucose to alpha-2,3 sialylated substrates. NA Belongs to the glycosyltransferase 10 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;Lewis blood group biosynthesis PE1 19 +NX_P52179 Myomesin-1 1685 187627 6.5 0 M line NA Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent. NA NA NA PE1 18 +NX_P52198 Rho-related GTP-binding protein RhoN 227 25369 8.66 0 Acrosome membrane NA May be specifically involved in neuronal and hepatic functions. Is a C3 toxin-insensitive member of the Rho subfamily (By similarity). NA Belongs to the small GTPase superfamily. Rho family. NA PE1 17 +NX_P52209 6-phosphogluconate dehydrogenase, decarboxylating 483 53140 6.8 0 Cytoplasm;Cytosol;Cytoskeleton NA Catalyzes the oxidative decarboxylation of 6-phosphogluconate to ribulose 5-phosphate and CO(2), with concomitant reduction of NADP to NADPH. NA Belongs to the 6-phosphogluconate dehydrogenase family. Carbohydrate degradation; pentose phosphate pathway; D-ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage): step 3/3.;Pentose phosphate pathway;Glutathione metabolism;Metabolic pathways;Pentose phosphate pathway PE1 1 +NX_P52272 Heterogeneous nuclear ribonucleoprotein M 730 77516 8.84 0 Nucleoplasm;Nucleolus;Nucleus NA Pre-mRNA binding protein in vivo, binds avidly to poly(G) and poly(U) RNA homopolymers in vitro. Involved in splicing. Acts as a receptor for carcinoembryonic antigen in Kupffer cells, may initiate a series of signaling events leading to tyrosine phosphorylation of proteins and induction of IL-1 alpha, IL-6, IL-10 and tumor necrosis factor alpha cytokines. Sumoylated. NA Spliceosome;mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA;FGFR2 alternative splicing PE1 19 +NX_P52292 Importin subunit alpha-1 529 57862 5.25 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. KPNA2 is phosphorylated by MAPK3;KPNA2 is phosphorylated by ITK (Phosphotyrosine:PTM-0255) Belongs to the importin alpha family. Influenza A;ISG15 antiviral mechanism;CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde;CaMK IV-mediated phosphorylation of CREB;NS1 Mediated Effects on Host Pathways;Sensing of DNA Double Strand Breaks;Estrogen-dependent gene expression PE1 17 +NX_P52294 Importin subunit alpha-5 538 60222 4.94 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS. Polyubiquitinated in the presence of RAG1 (in vitro). Belongs to the importin alpha family. Influenza A;ISG15 antiviral mechanism;Vpr-mediated nuclear import of PICs;Integration of provirus;Transport of Ribonucleoproteins into the Host Nucleus;NS1 Mediated Effects on Host Pathways;Apoptosis induced DNA fragmentation PE1 3 +NX_P52298 Nuclear cap-binding protein subunit 2 156 18001 8.34 0 Cytoplasm;Nucleoplasm;Nucleus NA Component of the cap-binding complex (CBC), which binds co-transcriptionally to the 5' cap of pre-mRNAs and is involved in various processes such as pre-mRNA splicing, translation regulation, nonsense-mediated mRNA decay, RNA-mediated gene silencing (RNAi) by microRNAs (miRNAs) and mRNA export. The CBC complex is involved in mRNA export from the nucleus via its interaction with ALYREF/THOC4/ALY, leading to the recruitment of the mRNA export machinery to the 5' end of mRNA and to mRNA export in a 5' to 3' direction through the nuclear pore. The CBC complex is also involved in mediating U snRNA and intronless mRNAs export from the nucleus. The CBC complex is essential for a pioneer round of mRNA translation, before steady state translation when the CBC complex is replaced by cytoplasmic cap-binding protein eIF4E. The pioneer round of mRNA translation mediated by the CBC complex plays a central role in nonsense-mediated mRNA decay (NMD), NMD only taking place in mRNAs bound to the CBC complex, but not on eIF4E-bound mRNAs. The CBC complex enhances NMD in mRNAs containing at least one exon-junction complex (EJC) via its interaction with UPF1, promoting the interaction between UPF1 and UPF2. The CBC complex is also involved in 'failsafe' NMD, which is independent of the EJC complex, while it does not participate in Staufen-mediated mRNA decay (SMD). During cell proliferation, the CBC complex is also involved in microRNAs (miRNAs) biogenesis via its interaction with SRRT/ARS2, thereby being required for miRNA-mediated RNA interference. The CBC complex also acts as a negative regulator of PARN, thereby acting as an inhibitor of mRNA deadenylation. In the CBC complex, NCBP2/CBP20 recognizes and binds capped RNAs (m7GpppG-capped RNA) but requires NCBP1/CBP80 to stabilize the movement of its N-terminal loop and lock the CBC into a high affinity cap-binding state with the cap structure. The conventional cap-binding complex with NCBP2 binds both small nuclear RNA (snRNA) and messenger (mRNA) and is involved in their export from the nucleus (PubMed:26382858). NA Belongs to the RRM NCBP2 family. RNA transport;mRNA surveillance pathway;Spliceosome;snRNP Assembly;SLBP independent Processing of Histone Pre-mRNAs;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;mRNA 3'-end processing;Processing of Capped Intron-Containing Pre-mRNA;SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs;Processing of Intronless Pre-mRNAs;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);FGFR2 alternative splicing;RNA polymerase II transcribes snRNA genes;Signaling by FGFR2 IIIa TM;Regulation of expression of SLITs and ROBOs;RNA Polymerase II Transcription Termination PE1 3 +NX_P52306 Rap1 GTPase-GDP dissociation stimulator 1 607 66317 5.17 0 Cytosol NA Stimulates GDP/GTP exchange reaction of a group of small GTP-binding proteins (G proteins) including Rap1a/Rap1b, RhoA, RhoB and KRas, by stimulating the dissociation of GDP from and the subsequent binding of GTP to each small G protein. NA NA NA PE1 4 +NX_P52333 Tyrosine-protein kinase JAK3 1124 125099 6.77 0 Cytoplasm;Cytosol;Endomembrane system;Cell membrane Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative Non-receptor tyrosine kinase involved in various processes such as cell growth, development, or differentiation. Mediates essential signaling events in both innate and adaptive immunity and plays a crucial role in hematopoiesis during T-cells development. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors sharing the common subunit gamma such as IL2R, IL4R, IL7R, IL9R, IL15R and IL21R. Following ligand binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins. Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, upon IL2R activation by IL2, JAK1 and JAK3 molecules bind to IL2R beta (IL2RB) and gamma chain (IL2RG) subunits inducing the tyrosine phosphorylation of both receptor subunits on their cytoplasmic domain. Then, STAT5A AND STAT5B are recruited, phosphorylated and activated by JAK1 and JAK3. Once activated, dimerized STAT5 translocates to the nucleus and promotes the transcription of specific target genes in a cytokine-specific fashion. Tyrosine phosphorylated in response to IL-2 and IL-4. Dephosphorylation of Tyr-980 and Tyr-981 by PTPN2 negatively regulates cytokine-mediated signaling (Probable). Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily. Chemokine signaling pathway;Jak-STAT signaling pathway;Measles;HTLV-I infection;Primary immunodeficiency;RAF/MAP kinase cascade;Interleukin-7 signaling;Interleukin receptor SHC signaling;Interleukin-20 family signaling;Interleukin-4 and Interleukin-13 signaling;Interleukin-15 signaling;Interleukin-9 signaling;Interleukin-2 signaling;Interleukin-21 signaling PE1 19 +NX_P52429 Diacylglycerol kinase epsilon 567 63927 8.02 2 Membrane;Nucleoplasm;Cytosol;Cytoplasm Nephrotic syndrome 7;Hemolytic uremic syndrome atypical 7 Highly selective for arachidonate-containing species of diacylglycerol (DAG). May terminate signals transmitted through arachidonoyl-DAG or may contribute to the synthesis of phospholipids with defined fatty acid composition. NA Belongs to the eukaryotic diacylglycerol kinase family. Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Effects of PIP2 hydrolysis PE1 17 +NX_P52434 DNA-directed RNA polymerases I, II, and III subunit RPABC3 150 17143 4.5 0 Nucleoplasm;Nucleolus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. NA Belongs to the eukaryotic RPB8 RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Cytosolic DNA-sensing pathway;Huntington's disease;Viral Messenger RNA Synthesis;Transcriptional regulation by small RNAs;PIWI-interacting RNA (piRNA) biogenesis;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;Processing of Capped Intron-Containing Pre-mRNA;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;Cytosolic sensors of pathogen-associated DNA;MicroRNA (miRNA) biogenesis;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase II Transcription Elongation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;FGFR2 alternative splicing;RNA polymerase II transcribes snRNA genes;Signaling by FGFR2 IIIa TM;TP53 Regulates Transcription of DNA Repair Genes;Estrogen-dependent gene expression PE1 3 +NX_P52435 DNA-directed RNA polymerase II subunit RPB11-a 117 13293 5.63 0 Nucleus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB11 is part of the core element with the central large cleft (By similarity). NA Belongs to the archaeal RpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Huntington's disease;Viral Messenger RNA Synthesis;Transcriptional regulation by small RNAs;PIWI-interacting RNA (piRNA) biogenesis;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;Processing of Capped Intron-Containing Pre-mRNA;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;MicroRNA (miRNA) biogenesis;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Activation of anterior HOX genes in hindbrain development during early embryogenesis;FGFR2 alternative splicing;RNA polymerase II transcribes snRNA genes;Signaling by FGFR2 IIIa TM;TP53 Regulates Transcription of DNA Repair Genes;Estrogen-dependent gene expression PE1 7 +NX_P52564 Dual specificity mitogen-activated protein kinase kinase 6 334 37492 7.01 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. With MAP3K3/MKK3, catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in the MAP kinases p38 MAPK11, MAPK12, MAPK13 and MAPK14 and plays an important role in the regulation of cellular responses to cytokines and all kinds of stresses. Especially, MAP2K3/MKK3 and MAP2K6/MKK6 are both essential for the activation of MAPK11 and MAPK13 induced by environmental stress, whereas MAP2K6/MKK6 is the major MAPK11 activator in response to TNF. MAP2K6/MKK6 also phosphorylates and activates PAK6. The p38 MAP kinase signal transduction pathway leads to direct activation of transcription factors. Nuclear targets of p38 MAP kinase include the transcription factors ATF2 and ELK1. Within the p38 MAPK signal transduction pathway, MAP3K6/MKK6 mediates phosphorylation of STAT4 through MAPK14 activation, and is therefore required for STAT4 activation and STAT4-regulated gene expression in response to IL-12 stimulation. The pathway is also crucial for IL-6-induced SOCS3 expression and down-regulation of IL-6-mediated gene induction; and for IFNG-dependent gene transcription. Has a role in osteoclast differentiation through NF-kappa-B transactivation by TNFSF11, and in endochondral ossification and since SOX9 is another likely downstream target of the p38 MAPK pathway. MAP2K6/MKK6 mediates apoptotic cell death in thymocytes. Acts also as a regulator for melanocytes dendricity, through the modulation of Rho family GTPases. Weakly autophosphorylated. Phosphorylated at Ser-207 and Thr-211 by the majority of M3Ks, such as MAP3K5/ASK1, MAP3K1/MEKK1, MAP3K2/MEKK2, MAP3K3/MEKK3, MAP3K4/MEKK4, MAP3K7/TAK1, MAP3K11/MLK3 and MAP3K17/TAOK2.;Acetylation of Ser-207 and Thr-211 by Yersinia yopJ prevents phosphorylation and activation, thus blocking the MAPK signaling pathway.;MAP2K6 is phosphorylated by MAP3K3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAP2K6 is phosphorylated by MAP3K7 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAP2K6 is phosphorylated by LRRK2;MAP2K6 is phosphorylated by MAP3K4 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAP2K6 is phosphorylated by MAP3K2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAP2K6 is phosphorylated by MAP3K5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. MAPK signaling pathway;Osteoclast differentiation;Toll-like receptor signaling pathway;Fc epsilon RI signaling pathway;GnRH signaling pathway;Amyotrophic lateral sclerosis (ALS);Toxoplasmosis;Influenza A;NOD1/2 Signaling Pathway;Oxidative Stress Induced Senescence;activated TAK1 mediates p38 MAPK activation;Uptake and function of anthrax toxins;PI5P Regulates TP53 Acetylation;Interleukin-1 signaling;Myogenesis PE1 17 +NX_P52565 Rho GDP-dissociation inhibitor 1 204 23207 5.03 0 Cytoplasm;Cytosol Nephrotic syndrome 8 Controls Rho proteins homeostasis. Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Retains Rho proteins such as CDC42, RAC1 and RHOA in an inactive cytosolic pool, regulating their stability and protecting them from degradation. Actively involved in the recycling and distribution of activated Rho GTPases in the cell, mediates extraction from membranes of both inactive and activated molecules due its exceptionally high affinity for prenylated forms. Through the modulation of Rho proteins, may play a role in cell motility regulation. In glioma cells, inhibits cell migration and invasion by mediating the signals of SEMA5A and PLXNB3 that lead to inactivation of RAC1. ARHGDIA is phosphorylated by FER;ARHGDIA is phosphorylated by PRKCZ (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the Rho GDI family. Neurotrophin signaling pathway;Vasopressin-regulated water reabsorption;Axonal growth inhibition (RHOA activation);Rho GTPase cycle;Axonal growth stimulation PE1 17 +NX_P52566 Rho GDP-dissociation inhibitor 2 201 22988 5.1 0 Cytosol NA Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them (PubMed:8356058, PubMed:7512369). Regulates reorganization of the actin cytoskeleton mediated by Rho family members (PubMed:8262133). NA Belongs to the Rho GDI family. Neurotrophin signaling pathway;Vasopressin-regulated water reabsorption;Rho GTPase cycle PE1 12 +NX_P52569 Cationic amino acid transporter 2 658 71673 7.01 14 Cell junction;Cell membrane NA Functions as low-affinity, high capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) (PubMed:9174363). May play a role in classical or alternative activation of macrophages via its role in arginine transport.;Functions as permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine); the affinity for its substrates differs between isoforms created by alternative splicing.;Functions as permease that mediates the transport of the cationic amino acids (arginine, lysine and ornithine), and it has much higher affinity for arginine than isoform 2. NA Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family. Amino acid transport across the plasma membrane PE1 8 +NX_P52594 Arf-GAP domain and FG repeat-containing protein 1 562 58260 8.82 0 Cytoplasmic vesicle;Nucleus NA Required for vesicle docking or fusion during acrosome biogenesis (By similarity). May play a role in RNA trafficking or localization. In case of infection by HIV-1, acts as a cofactor for viral Rev and promotes movement of Rev-responsive element-containing RNAs from the nuclear periphery to the cytoplasm. This step is essential for HIV-1 replication. O-glycosylated. NA Influenza A;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 2 +NX_P52597 Heterogeneous nuclear ribonucleoprotein F 415 45672 5.38 0 Nucleoplasm NA Component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Plays a role in the regulation of alternative splicing events. Binds G-rich sequences in pre-mRNAs and keeps target RNA in an unfolded state. Sumoylated. NA mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA;FGFR2 alternative splicing;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 10 +NX_P52630 Signal transducer and activator of transcription 2 851 97916 5.34 0 Cytoplasm;Cytosol;Nucleus;Cell membrane Immunodeficiency 44 Signal transducer and activator of transcription that mediates signaling by type I IFNs (IFN-alpha and IFN-beta). Following type I IFN binding to cell surface receptors, Jak kinases (TYK2 and JAK1) are activated, leading to tyrosine phosphorylation of STAT1 and STAT2. The phosphorylated STATs dimerize, associate with IRF9/ISGF3G to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of interferon stimulated genes, which drive the cell in an antiviral state (PubMed:9020188, PubMed:23391734). Acts as a regulator of mitochondrial fission by modulating the phosphorylation of DNM1L at 'Ser-616' and 'Ser-637' which activate and inactivate the GTPase activity of DNM1L respectively (PubMed:26122121). Tyrosine phosphorylated in response to IFN-alpha. Phosphorylation at Ser-287 negatively regulates the transcriptional response.;'Lys-48'-linked ubiquitination by DCST1 leads to STAT2 proteasomal degradation. Belongs to the transcription factor STAT family. Chemokine signaling pathway;Osteoclast differentiation;Jak-STAT signaling pathway;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Interferon alpha/beta signaling;Regulation of IFNA signaling;Interleukin-20 family signaling PE1 12 +NX_P52655 Transcription initiation factor IIA subunit 1 376 41514 4.4 0 Nucleoplasm;Cytosol;Nucleus NA TFIIA is a component of the transcription machinery of RNA polymerase II and plays an important role in transcriptional activation. TFIIA in a complex with TBP mediates transcriptional activity. The alpha and beta subunits are postranslationally produced from the precursor form by TASP1. The cleavage promotes proteasomal degradation. Belongs to the TFIIA subunit 1 family. Basal transcription factors;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA polymerase II transcribes snRNA genes;Estrogen-dependent gene expression PE1 14 +NX_P52657 Transcription initiation factor IIA subunit 2 109 12457 6.26 0 Nucleoplasm;Nucleus NA TFIIA is a component of the transcription machinery of RNA polymerase II and plays an important role in transcriptional activation. TFIIA in a complex with TBP mediates transcriptional activity. NA Belongs to the TFIIA subunit 2 family. Basal transcription factors;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA polymerase II transcribes snRNA genes;Estrogen-dependent gene expression PE1 15 +NX_P52701 DNA mismatch repair protein Msh6 1360 152786 6.5 0 Golgi apparatus;Chromosome;Nucleoplasm;Cytoplasmic vesicle;Nucleus Endometrial cancer;Hereditary non-polyposis colorectal cancer 5;Colorectal cancer;Mismatch repair cancer syndrome Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. Recruited on chromatin in G1 and early S phase via its PWWP domain that specifically binds trimethylated 'Lys-36' of histone H3 (H3K36me3): early recruitment to chromatin to be replicated allowing a quick identification of mismatch repair to initiate the DNA mismatch repair reaction. The N-terminus is blocked.;Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome pathway.;MSH6 is phosphorylated by PRKCZ (Phosphothreonine:PTM-0254) Belongs to the DNA mismatch repair MutS family. Mismatch repair;Pathways in cancer;Colorectal cancer;Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha);Defective Mismatch Repair Associated With MSH2;Defective Mismatch Repair Associated With MSH6 PE1 2 +NX_P52732 Kinesin-like protein KIF11 1056 119159 5.47 0 Cytoplasm;Spindle pole;Spindle;Cytosol Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Motor protein required for establishing a bipolar spindle during mitosis (PubMed:19001501). Required in non-mitotic cells for transport of secretory proteins from the Golgi complex to the cell surface (PubMed:23857769). A subset of this protein primarily localized at the spindle pole is phosphorylated by NEK6 during mitosis; phosphorylation is required for mitotic function.;Phosphorylated exclusively on serine during S phase, but on both serine and Thr-926 during mitosis, so controlling the association of KIF11 with the spindle apparatus (probably during early prophase). Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. BimC subfamily. MHC class II antigen presentation;Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 10 +NX_P52735 Guanine nucleotide exchange factor VAV2 878 101289 6.67 0 Cytoplasmic vesicle NA Guanine nucleotide exchange factor for the Rho family of Ras-related GTPases. Plays an important role in angiogenesis. Its recruitment by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly (By similarity). Phosphorylated on tyrosine residues in response to FGR activation. NA Chemokine signaling pathway;Focal adhesion;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Regulation of actin dynamics for phagocytic cup formation;GPVI-mediated activation cascade;EPH-ephrin mediated repulsion of cells;Rho GTPase cycle;NRAGE signals death through JNK;DAP12 signaling;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;G alpha (12/13) signalling events;VEGFA-VEGFR2 Pathway;Signal transduction by L1;VEGFR2 mediated vascular permeability PE1 9 +NX_P52736 Zinc finger protein 133 654 73388 9.26 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA May be involved in transcriptional regulation as a repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 20 +NX_P52737 Zinc finger protein 136 540 62784 9.32 0 Nucleolus;Nucleus NA May be involved in transcriptional regulation as a weak repressor when alone, or a potent one when fused with a heterologous protein containing a KRAB B-domain. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_P52738 Zinc finger protein 140 457 52996 8.95 0 Nucleus NA May be involved in transcriptional regulation as a repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 12 +NX_P52739 Zinc finger protein 131 623 71422 5.1 0 Nucleoplasm;Nucleus;Cytoskeleton NA Plays a role during development and organogenesis as well as in the function of the adult central nervous system (By similarity). May be involved in transcriptional regulation as a repressor of ESR1/ER-alpha signaling. Ubiquitinated.;Monosumoylated at Lys-601 by CBX4 and UHRF2. Sumoylation may potentiate ZNF131 inhibition of estrogen signaling. Sumoylation does not interfere with ubiquitination. Belongs to the krueppel C2H2-type zinc-finger protein family. SUMOylation of transcription cofactors PE1 5 +NX_P52740 Zinc finger protein 132 706 80623 8.77 0 Cytoplasmic vesicle;Nucleus;Cytoskeleton NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_P52741 Zinc finger protein 134 427 48480 8.96 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_P52742 Zinc finger protein 135 658 75261 8.49 0 Cytosol;Nucleus NA Plays a role in the regulation of cell morphology and cytoskeletal organization. May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_P52743 Putative zinc finger protein 137 207 24115 9.77 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE5 19 +NX_P52744 Zinc finger protein 138 262 30592 9.63 0 Nucleus NA May be involved in transcriptional regulation as a repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_P52746 Zinc finger protein 142 1687 187880 8.24 0 Nucleoplasm;Nucleolus;Nucleus Neurodevelopmental disorder with impaired speech and hyperkinetic movements May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 2 +NX_P52747 Zinc finger protein 143 638 68896 5.64 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Transcriptional activator. Activates the gene for selenocysteine tRNA (tRNAsec). Binds to the SPH motif of small nuclear RNA (snRNA) gene promoters. Participates in efficient U6 RNA polymerase III transcription via its interaction with CHD8. NA Belongs to the GLI C2H2-type zinc-finger protein family. RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 3 Promoter;RNA polymerase II transcribes snRNA genes PE1 11 +NX_P52756 RNA-binding protein 5 815 92154 5.94 0 Nucleoplasm;Nucleus NA Component of the spliceosome A complex. Regulates alternative splicing of a number of mRNAs. May modulate splice site pairing after recruitment of the U1 and U2 snRNPs to the 5' and 3' splice sites of the intron. May both positively and negatively regulate apoptosis by regulating the alternative splicing of several genes involved in this process, including FAS and CASP2/caspase-2. In the case of FAS, promotes exclusion of exon 6 thereby producing a soluble form of FAS that inhibits apoptosis. In the case of CASP2/caspase-2, promotes exclusion of exon 9 thereby producing a catalytically active form of CASP2/Caspase-2 that induces apoptosis. NA Belongs to the RBM5/RBM10 family. mRNA Splicing - Major Pathway PE1 3 +NX_P52757 Beta-chimaerin 468 53924 7.04 0 Membrane;Nucleoplasm NA GTPase-activating protein for p21-rac. Insufficient expression of beta-2 chimaerin is expected to lead to higher Rac activity and could therefore play a role in the progression from low-grade to high-grade tumors. NA NA Rho GTPase cycle PE1 7 +NX_P52758 2-iminobutanoate/2-iminopropanoate deaminase 137 14494 8.73 0 Peroxisome;Cytoplasm;Mitochondrion;Nucleus NA Catalyzes the hydrolytic deamination of enamine/imine intermediates that form during the course of normal metabolism. May facilitate the release of ammonia from these potentially toxic reactive metabolites, reducing their impact on cellular components. It may act on enamine/imine intermediates formed by several types of pyridoxal-5'-phosphate-dependent dehydratases including L-threonine dehydratase.;Also promotes endoribonucleolytic cleavage of some transcripts by promoting recruitment of the ribonuclease P/MRP complex (PubMed:8973653, PubMed:30930054). Acts by bridging YTHDF2 and the ribonuclease P/MRP complex (PubMed:30930054). RIDA/HRSP12 binds to N6-methyladenosine (m6A)-containing mRNAs containing a 5'-GGUUC-3' motif: cooperative binding of RIDA/HRSP12 and YTHDF2 to such transcripts lead to recruitment of the ribonuclease P/MRP complex and subsequent endoribonucleolytic cleavage (PubMed:30930054). NA Belongs to the RutC family. Threonine catabolism PE1 8 +NX_P52788 Spermine synthase 366 41268 4.87 0 Cytoplasm;Cytosol;Nucleus X-linked syndromic mental retardation Snyder-Robinson type Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM). NA Belongs to the spermidine/spermine synthase family. Amine and polyamine biosynthesis; spermine biosynthesis; spermine from spermidine: step 1/1.;Cysteine and methionine metabolism;Arginine and proline metabolism;beta-Alanine metabolism;Glutathione metabolism;Metabolic pathways;Metabolism of polyamines PE1 X +NX_P52789 Hexokinase-2 917 102380 5.71 0 Mitochondrion outer membrane;Cytosol;Mitochondrion NA Catalyzes the phosphorylation of hexose, such as D-glucose and D-fructose, to hexose 6-phosphate (D-glucose 6-phosphate and D-fructose 6-phosphate, respectively) (PubMed:23185017, PubMed:26985301, PubMed:29298880). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (PubMed:29298880). Plays a key role in maintaining the integrity of the outer mitochondrial membrane by preventing the release of apoptogenic molecules from the intermembrane space and subsequent apoptosis (PubMed:18350175). NA Belongs to the hexokinase family. Carbohydrate metabolism; hexose metabolism.;Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 1/4.;Glycolysis / Gluconeogenesis;Fructose and mannose metabolism;Galactose metabolism;Starch and sucrose metabolism;Amino sugar and nucleotide sugar metabolism;Butirosin and neomycin biosynthesis;Metabolic pathways;Insulin signaling pathway;Type II diabetes mellitus;Carbohydrate digestion and absorption;Glycolysis PE1 2 +NX_P52790 Hexokinase-3 923 99025 5.23 0 NA NA Catalyzes the phosphorylation of hexose, such as D-glucose and D-fructose, to hexose 6-phosphate (D-glucose 6-phosphate and D-fructose 6-phosphate, respectively) (PubMed:8717435). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (PubMed:8717435). NA Belongs to the hexokinase family. Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 1/4.;Carbohydrate metabolism; hexose metabolism.;Glycolysis / Gluconeogenesis;Fructose and mannose metabolism;Galactose metabolism;Starch and sucrose metabolism;Amino sugar and nucleotide sugar metabolism;Butirosin and neomycin biosynthesis;Metabolic pathways;Insulin signaling pathway;Type II diabetes mellitus;Carbohydrate digestion and absorption;Glycolysis;Neutrophil degranulation PE1 5 +NX_P52797 Ephrin-A3 238 26350 8.85 0 Cell membrane NA Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling (By similarity). NA Belongs to the ephrin family. Axon guidance;EPH-Ephrin signaling;EPH-ephrin mediated repulsion of cells;EPHA-mediated growth cone collapse PE1 1 +NX_P52798 Ephrin-A4 201 22386 6.89 0 Secreted;Cell membrane NA Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. May play a role in the interaction between activated B-lymphocytes and dendritic cells in tonsils. NA Belongs to the ephrin family. Axon guidance;EPH-Ephrin signaling;EPH-ephrin mediated repulsion of cells;EPHA-mediated growth cone collapse PE1 1 +NX_P52799 Ephrin-B2 333 36923 9.04 1 Nucleoplasm;Cytosol;Adherens junction;Cell membrane NA (Microbial infection) Acts as a receptor for Hendra virus and Nipah virus.;Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds to receptor tyrosine kinase including EPHA4, EPHA3 and EPHB4. Together with EPHB4 plays a central role in heart morphogenesis and angiogenesis through regulation of cell adhesion and cell migration. EPHB4-mediated forward signaling controls cellular repulsion and segregation from EFNB2-expressing cells. May play a role in constraining the orientation of longitudinally projecting axons. Inducible phosphorylation of tyrosine residues in the cytoplasmic domain. Belongs to the ephrin family. Axon guidance;EPH-Ephrin signaling;EPHB-mediated forward signaling;Ephrin signaling;EPH-ephrin mediated repulsion of cells PE1 13 +NX_P52803 Ephrin-A5 228 26297 5.97 0 Cytoplasmic vesicle;Cytosol;Caveola;Cell membrane NA Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Induces compartmentalized signaling within a caveolae-like membrane microdomain when bound to the extracellular domain of its cognate receptor. This signaling event requires the activity of the Fyn tyrosine kinase. Activates the EPHA3 receptor to regulate cell-cell adhesion and cytoskeletal organization. With the receptor EPHA2 may regulate lens fiber cells shape and interactions and be important for lens transparency maintenance. May function actively to stimulate axon fasciculation. The interaction of EFNA5 with EPHA5 also mediates communication between pancreatic islet cells to regulate glucose-stimulated insulin secretion. Cognate/functional ligand for EPHA7, their interaction regulates brain development modulating cell-cell adhesion and repulsion. NA Belongs to the ephrin family. Axon guidance;EPH-Ephrin signaling;EPH-ephrin mediated repulsion of cells;EPHA-mediated growth cone collapse PE1 5 +NX_P52815 39S ribosomal protein L12, mitochondrial 198 21348 9.05 0 Mitochondrion NA Associates with mitochondrial RNA polymerase to activate transcription. NA Belongs to the bacterial ribosomal protein bL12 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 17 +NX_P52823 Stanniocalcin-1 247 27621 8.28 0 Secreted NA Stimulates renal phosphate reabsorption, and could therefore prevent hypercalcemia. NA Belongs to the stanniocalcin family. NA PE1 8 +NX_P52824 Diacylglycerol kinase theta 942 101155 7.35 0 Cytoplasm;Nucleus speckle;Cell membrane;Nucleus;Cytoskeleton NA Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA). May regulate the activity of protein kinase C by controlling the balance between these two signaling lipids. Activated in the nucleus in response to alpha-thrombin and nerve growth factor (By similarity). May be involved in cAMP-induced activation of NR5A1 and subsequent steroidogenic gene transcription by delivering PA as ligand for NR5A1. Acts synergistically with NR5A1 on CYP17 transcriptional activity. Phosphorylated by PRKCE and PRKCH in vitro.;DGKQ is phosphorylated by PRKCE (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the eukaryotic diacylglycerol kinase family. Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Effects of PIP2 hydrolysis PE1 4 +NX_P52848 Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 882 100868 8.07 1 Golgi apparatus membrane Mental retardation, autosomal recessive 46 Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis (PubMed:10758005, PubMed:12634318). Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Compared to other NDST enzymes, its presence is absolutely required. Participates in biosynthesis of heparan sulfate that can ultimately serve as L-selectin ligands, thereby playing a role in inflammatory response (PubMed:10758005, PubMed:12634318). Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). NA Belongs to the sulfotransferase 1 family. NDST subfamily. Glycan metabolism; heparin biosynthesis.;Glycan metabolism; heparan sulfate biosynthesis.;Glycosaminoglycan biosynthesis - heparan sulfate;Metabolic pathways;HS-GAG biosynthesis PE1 5 +NX_P52849 Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 883 100875 8.81 1 Cytosol;Golgi apparatus membrane NA Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). NA Belongs to the sulfotransferase 1 family. NDST subfamily. Glycan metabolism; heparan sulfate biosynthesis.;Glycan metabolism; heparin biosynthesis.;Glycosaminoglycan biosynthesis - heparan sulfate;Metabolic pathways;HS-GAG biosynthesis PE1 10 +NX_P52888 Thimet oligopeptidase 689 78840 5.72 0 Cytoplasm;Cytosol NA Involved in the metabolism of neuropeptides under 20 amino acid residues long. Involved in cytoplasmic peptide degradation. Able to degrade the amyloid-beta precursor protein and generate amyloidogenic fragments. NA Belongs to the peptidase M3 family. Renin-angiotensin system;African trypanosomiasis;Antigen processing: Ubiquitination & Proteasome degradation PE1 19 +NX_P52895 Aldo-keto reductase family 1 member C2 323 36735 7.13 0 Cytoplasm 46,XY sex reversal 8 Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormones into the 3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of the most potent androgen 5-alpha-dihydrotestosterone (5-alpha-DHT) to 5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol). Has a high bile-binding ability. NA Belongs to the aldo/keto reductase family. Steroid hormone biosynthesis;Metabolism of xenobiotics by cytochrome P450;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 24-hydroxycholesterol;Synthesis of bile acids and bile salts via 27-hydroxycholesterol PE1 10 +NX_P52907 F-actin-capping protein subunit alpha-1 286 32923 5.45 0 Cytoplasm;Cytoskeleton NA F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. May play a role in the formation of epithelial cell junctions. NA Belongs to the F-actin-capping protein alpha subunit family. MHC class II antigen presentation;Factors involved in megakaryocyte development and platelet production;Advanced glycosylation endproduct receptor signaling;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;HSP90 chaperone cycle for steroid hormone receptors (SHR);Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 1 +NX_P52926 High mobility group protein HMGI-C 109 11832 10.63 0 Nucleoplasm;Nucleolus;Nucleus NA Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2. Plays an important role in chromosome condensation during the meiotic G2/M transition of spermatocytes. Plays a role in postnatal myogenesis, is involved in satellite cell activation (By similarity). Regulated by cell cycle-dependent phosphorylation which alters its DNA binding affinity. Phosphorylated by NEK2 (By similarity).;HMGA2 is phosphorylated by CDK1;HMGA2 is phosphorylated by NEK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the HMGA family. Formation of Senescence-Associated Heterochromatin Foci (SAHF) PE1 12 +NX_P52943 Cysteine-rich protein 2 208 22493 9.01 0 Nucleoplasm;Nucleolus;Cell membrane NA NA NA NA NA PE1 14 +NX_P52945 Pancreas/duodenum homeobox protein 1 283 30771 7.1 0 Nucleoplasm;Cytosol;Nucleus Diabetes mellitus, non-insulin-dependent;Maturity-onset diabetes of the young 4;Pancreatic agenesis 1 Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. As part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Binds preferentially the DNA motif 5'-[CT]TAAT[TG]-3'. During development, specifies the early pancreatic epithelium, permitting its proliferation, branching and subsequent differentiation. At adult stage, required for maintaining the hormone-producing phenotype of the beta-cell. Phosphorylated by the SAPK2 pathway at high intracellular glucose concentration. Phosphorylated by HIPK2 on Ser-268 upon glucose accumulation. This phosphorylation mediates subnuclear localization shifting. Phosphorylation by PASK may lead to translocation into the cytosol (By similarity). Belongs to the Antp homeobox family. IPF1/XlHbox-8 subfamily. Type II diabetes mellitus;Maturity onset diabetes of the young;Regulation of gene expression in beta cells;Regulation of gene expression in early pancreatic precursor cells PE1 13 +NX_P52948 Nuclear pore complex protein Nup98-Nup96 1817 197579 5.97 0 Nucleoplasm;Nuclear pore complex;Nucleus membrane;Cytoplasmic vesicle NA Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. NUP98 and NUP96 are involved in the bidirectional transport across the NPC. May anchor NUP153 and TPR to the NPC. In cooperation with DHX9, plays a role in transcription and alternative splicing activation of a subset of genes (PubMed:28221134). Involved in the localization of DHX9 in discrete intranuclear foci (GLFG-body) (PubMed:28221134). To isoform 4 are autoproteolytically cleaved to yield Nup98 and Nup96 or Nup98 only, respectively (PubMed:10087256, PubMed:20407419, PubMed:12191480, PubMed:18287282). Cleaved Nup98 is necessary for the targeting of Nup98 to the nuclear pore and the interaction with Nup96 (PubMed:20407419, PubMed:12191480).;Proteolytically degraded after poliovirus (PV) infection; degradation is partial and NCP- and TPR-binding domains withstand degradation.;NUP98 is phosphorylated by NEK7 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the nucleoporin GLFG family. RNA transport;Influenza A;Separation of Sister Chromatids;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 11 +NX_P52951 Homeobox protein GBX-2 348 37348 8.43 0 Nucleoplasm;Nucleus NA May act as a transcription factor for cell pluripotency and differentiation in the embryo. NA NA NA PE1 2 +NX_P52952 Homeobox protein Nkx-2.5 324 34918 9.46 0 Nucleoplasm;Cytosol;Nucleus Atrial septal defect 7, with or without atrioventricular conduction defects;Conotruncal heart malformations;Ventricular septal defect 3;Tetralogy of Fallot;Hypoplastic left heart syndrome 2;Hypothyroidism, congenital, non-goitrous, 5 Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4 (By similarity). Binds to the core DNA motif of NPPA promoter (PubMed:22849347, PubMed:26926761). It is transcriptionally controlled by PBX1 and acts as a transcriptional repressor of CDKN2B (By similarity). It is required for spleen development. NA Belongs to the NK-2 homeobox family. YAP1- and WWTR1 (TAZ)-stimulated gene expression;Physiological factors PE1 5 +NX_P52954 Transcription factor LBX1 281 30221 6.47 0 Nucleoplasm;Nucleus NA Transcription factor required for the development of GABAergic interneurons in the dorsal horn of the spinal cord and migration and further development of hypaxial muscle precursor cells for limb muscles, diaphragm and hypoglossal cord. NA NA NA PE1 10 +NX_P52961 GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1 327 36335 8.53 0 Sarcoplasmic reticulum membrane NA Has ADP-ribosyltransferase activity toward GLP1R. NA Belongs to the Arg-specific ADP-ribosyltransferase family. Alpha-defensins PE2 11 +NX_P53004 Biliverdin reductase A 296 33428 6.06 0 Cytoplasm;Cytosol Hyperbiliverdinemia Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor. BLVRA is phosphorylated by PRKCB (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the Gfo/Idh/MocA family. Biliverdin reductase subfamily. Porphyrin-containing compound metabolism; protoheme degradation.;Porphyrin and chlorophyll metabolism;Heme degradation PE1 7 +NX_P53007 Tricarboxylate transport protein, mitochondrial 311 34013 9.91 6 Mitochondrion inner membrane Combined D-2- and L-2-hydroxyglutaric aciduria;Myasthenic syndrome, congenital, 23, presynaptic Citrate transporter that mediates the exchange of mitochondrial citrate for cytosolic malate (PubMed:29031613, PubMed:29238895). Also able to mediate the exchange of citrate for isocitrate, phosphoenolpyruvate, cis- but not trans-aconitate and to a lesser extend maleate and succinate (PubMed:29031613). Important for the bioenergetics of hepatic cells as it provides a carbon source for fatty acid and sterol biosyntheses, and NAD(+) for the glycolytic pathway. Required for proper neuromuscular junction formation (Probable). NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Gluconeogenesis;Fatty acyl-CoA biosynthesis PE1 22 +NX_P53041 Serine/threonine-protein phosphatase 5 499 56879 5.88 0 Cytoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol;Nucleus NA Serine/threonine-protein phosphatase that dephosphorylates a myriad of proteins involved in different signaling pathways including the kinases CSNK1E, ASK1/MAP3K5, PRKDC and RAF1, the nuclear receptors NR3C1, PPARG, ESR1 and ESR2, SMAD proteins and TAU/MAPT. Implicated in wide ranging cellular processes, including apoptosis, differentiation, DNA damage response, cell survival, regulation of ion channels or circadian rhythms, in response to steroid and thyroid hormones, calcium, fatty acids, TGF-beta as well as oxidative and genotoxic stresses. Participates in the control of DNA damage response mechanisms such as checkpoint activation and DNA damage repair through, for instance, the regulation ATM/ATR-signaling and dephosphorylation of PRKDC and TP53BP1. Inhibits ASK1/MAP3K5-mediated apoptosis induced by oxidative stress. Plays a positive role in adipogenesis, mainly through the dephosphorylation and activation of PPARG transactivation function. Also dephosphorylates and inhibits the anti-adipogenic effect of NR3C1. Regulates the circadian rhythms, through the dephosphorylation and activation of CSNK1E. May modulate TGF-beta signaling pathway by the regulation of SMAD3 phosphorylation and protein expression levels. Dephosphorylates and may play a role in the regulation of TAU/MAPT. Through their dephosphorylation, may play a role in the regulation of ions channels such as KCNH2. Activated by at least two different proteolytic cleavages producing a 56 kDa and a 50 kDa form. Belongs to the PPP phosphatase family. PP-5 (PP-T) subfamily. MAPK signaling pathway;Negative regulation of MAPK pathway;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;ESR-mediated signaling PE1 19 +NX_P53350 Serine/threonine-protein kinase PLK1 603 68255 9.09 0 Midbody;Centrosome;Nucleus;Spindle;Kinetochore NA Serine/threonine-protein kinase that performs several important functions throughout M phase of the cell cycle, including the regulation of centrosome maturation and spindle assembly, the removal of cohesins from chromosome arms, the inactivation of anaphase-promoting complex/cyclosome (APC/C) inhibitors, and the regulation of mitotic exit and cytokinesis. Polo-like kinase proteins acts by binding and phosphorylating proteins are that already phosphorylated on a specific motif recognized by the POLO box domains. Phosphorylates BORA, BUB1B/BUBR1, CCNB1, CDC25C, CEP55, ECT2, ERCC6L, FBXO5/EMI1, FOXM1, KIF20A/MKLP2, CENPU, NEDD1, NINL, NPM1, NUDC, PKMYT1/MYT1, KIZ, PPP1R12A/MYPT1, PRC1, RACGAP1/CYK4, SGO1, STAG2/SA2, TEX14, TOPORS, p73/TP73, TPT1, WEE1 and HNRNPU. Plays a key role in centrosome functions and the assembly of bipolar spindles by phosphorylating KIZ, NEDD1 and NINL. NEDD1 phosphorylation promotes subsequent targeting of the gamma-tubulin ring complex (gTuRC) to the centrosome, an important step for spindle formation. Phosphorylation of NINL component of the centrosome leads to NINL dissociation from other centrosomal proteins. Involved in mitosis exit and cytokinesis by phosphorylating CEP55, ECT2, KIF20A/MKLP2, CENPU, PRC1 and RACGAP1. Recruited at the central spindle by phosphorylating and docking PRC1 and KIF20A/MKLP2; creates its own docking sites on PRC1 and KIF20A/MKLP2 by mediating phosphorylation of sites subsequently recognized by the POLO box domains. Phosphorylates RACGAP1, thereby creating a docking site for the Rho GTP exchange factor ECT2 that is essential for the cleavage furrow formation. Promotes the central spindle recruitment of ECT2. Plays a central role in G2/M transition of mitotic cell cycle by phosphorylating CCNB1, CDC25C, FOXM1, CENPU, PKMYT1/MYT1, PPP1R12A/MYPT1 and WEE1. Part of a regulatory circuit that promotes the activation of CDK1 by phosphorylating the positive regulator CDC25C and inhibiting the negative regulators WEE1 and PKMYT1/MYT1. Also acts by mediating phosphorylation of cyclin-B1 (CCNB1) on centrosomes in prophase. Phosphorylates FOXM1, a key mitotic transcription regulator, leading to enhance FOXM1 transcriptional activity. Involved in kinetochore functions and sister chromatid cohesion by phosphorylating BUB1B/BUBR1, FBXO5/EMI1 and STAG2/SA2. PLK1 is high on non-attached kinetochores suggesting a role of PLK1 in kinetochore attachment or in spindle assembly checkpoint (SAC) regulation. Required for kinetochore localization of BUB1B. Regulates the dissociation of cohesin from chromosomes by phosphorylating cohesin subunits such as STAG2/SA2. Phosphorylates SGO1: required for spindle pole localization of isoform 3 of SGO1 and plays a role in regulating its centriole cohesion function. Mediates phosphorylation of FBXO5/EMI1, a negative regulator of the APC/C complex during prophase, leading to FBXO5/EMI1 ubiquitination and degradation by the proteasome. Acts as a negative regulator of p53 family members: phosphorylates TOPORS, leading to inhibit the sumoylation of p53/TP53 and simultaneously enhance the ubiquitination and subsequent degradation of p53/TP53. Phosphorylates the transactivation domain of the transcription factor p73/TP73, leading to inhibit p73/TP73-mediated transcriptional activation and pro-apoptotic functions. Phosphorylates BORA, and thereby promotes the degradation of BORA. Contributes to the regulation of AURKA function. Also required for recovery after DNA damage checkpoint and entry into mitosis. Phosphorylates MISP, leading to stabilization of cortical and astral microtubule attachments required for proper spindle positioning (PubMed:8991084, PubMed:11202906, PubMed:12207013, PubMed:12447691, PubMed:12524548, PubMed:12738781, PubMed:12852856, PubMed:12939256, PubMed:14532005, PubMed:14734534, PubMed:15070733, PubMed:15148369, PubMed:15469984, PubMed:16198290, PubMed:16247472, PubMed:16980960, PubMed:17081991, PubMed:17351640, PubMed:17376779, PubMed:17617734, PubMed:18174154, PubMed:18331714, PubMed:18418051, PubMed:18477460, PubMed:18521620, PubMed:18615013, PubMed:19160488, PubMed:19351716, PubMed:19468300, PubMed:19468302, PubMed:19473992, PubMed:19509060, PubMed:19597481, PubMed:23455478, PubMed:23509069). Together with MEIKIN, acts as a regulator of kinetochore function during meiosis I: required both for mono-orientation of kinetochores on sister chromosomes and protection of centromeric cohesin from separase-mediated cleavage (By similarity). Phosphorylates CEP68 and is required for its degradation (PubMed:25503564). Regulates nuclear envelope breakdown during prophase by phosphorylating DCTN1 resulting in its localization in the nuclear envelope (PubMed:20679239). Phosphorylates the heat shock transcription factor HSF1, promoting HSF1 nuclear translocation upon heat shock (PubMed:15661742). Phosphorylates HSF1 also in the early mitotic period; this phosphorylation regulates HSF1 localization to the spindle pole, the recruitment of the SCF(BTRC) ubiquitin ligase complex induicing HSF1 degradation, and hence mitotic progression (PubMed:18794143). Regulates mitotic progression by phosphorylating RIOK2 (PubMed:21880710). Catalytic activity is enhanced by phosphorylation of Thr-210. Phosphorylation at Thr-210 is first detected on centrosomes in the G2 phase of the cell cycle, peaks in prometaphase and gradually disappears from centrosomes during anaphase. Dephosphorylation at Thr-210 at centrosomes is probably mediated by protein phosphatase 1C (PP1C), via interaction with PPP1R12A/MYPT1. Autophosphorylation and phosphorylation of Ser-137 may not be significant for the activation of PLK1 during mitosis, but may enhance catalytic activity during recovery after DNA damage checkpoint. Phosphorylated in vitro by STK10.;Ubiquitinated by the anaphase promoting complex/cyclosome (APC/C) in anaphase and following DNA damage, leading to its degradation by the proteasome. Ubiquitination is mediated via its interaction with FZR1/CDH1. Ubiquitination and subsequent degradation prevents entry into mitosis and is essential to maintain an efficient G2 DNA damage checkpoint. Monoubiquitination at Lys-492 by the BCR(KLHL22) ubiquitin ligase complex does not lead to degradation: it promotes PLK1 dissociation from phosphoreceptor proteins and subsequent removal from kinetochores, allowing silencing of the spindle assembly checkpoint (SAC) and chromosome segregation.;PLK1 is phosphorylated by STK10 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CDC5/Polo subfamily. Cell cycle;Oocyte meiosis;Progesterone-mediated oocyte maturation;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Separation of Sister Chromatids;Activation of NIMA Kinases NEK9, NEK6, NEK7;Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Condensation of Prophase Chromosomes;Polo-like kinase mediated events;Cyclin A/B1/B2 associated events during G2/M transition;Phosphorylation of the APC/C;Phosphorylation of Emi1;Recruitment of NuMA to mitotic centrosomes;Mitotic Metaphase/Anaphase Transition;Golgi Cisternae Pericentriolar Stack Reorganization;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Mitotic Telophase/Cytokinesis;The role of GTSE1 in G2/M progression after G2 checkpoint;AURKA Activation by TPX2 PE1 16 +NX_P53355 Death-associated protein kinase 1 1430 160046 6.37 0 Cytoplasm;Centrosome;Cytoskeleton NA Cannot induce apoptosis but can induce membrane blebbing.;Calcium/calmodulin-dependent serine/threonine kinase involved in multiple cellular signaling pathways that trigger cell survival, apoptosis, and autophagy. Regulates both type I apoptotic and type II autophagic cell deaths signal, depending on the cellular setting. The former is caspase-dependent, while the latter is caspase-independent and is characterized by the accumulation of autophagic vesicles. Phosphorylates PIN1 resulting in inhibition of its catalytic activity, nuclear localization, and cellular function. Phosphorylates TPM1, enhancing stress fiber formation in endothelial cells. Phosphorylates STX1A and significantly decreases its binding to STXBP1. Phosphorylates PRKD1 and regulates JNK signaling by binding and activating PRKD1 under oxidative stress. Phosphorylates BECN1, reducing its interaction with BCL2 and BCL2L1 and promoting the induction of autophagy. Phosphorylates TSC2, disrupting the TSC1-TSC2 complex and stimulating mTORC1 activity in a growth factor-dependent pathway. Phosphorylates RPS6, MYL9 and DAPK3. Acts as a signaling amplifier of NMDA receptors at extrasynaptic sites for mediating brain damage in stroke. Cerebral ischemia recruits DAPK1 into the NMDA receptor complex and it phosphorylates GRINB at Ser-1303 inducing injurious Ca(2+) influx through NMDA receptor channels, resulting in an irreversible neuronal death. Required together with DAPK3 for phosphorylation of RPL13A upon interferon-gamma activation which is causing RPL13A involvement in transcript-selective translation inhibition. Removal of the C-terminal tail of isoform 2 (corresponding to amino acids 296-337 of isoform 2) by proteolytic cleavage stimulates maximally its membrane-blebbing function.;Ubiquitinated by the BCR(KLHL20) E3 ubiquitin ligase complex, leading to its degradation by the proteasome.;In response to mitogenic stimulation (PMA or EGF), phosphorylated at Ser-289; phosphorylation suppresses DAPK1 pro-apoptotic function. Autophosphorylation at Ser-308 inhibits its catalytic activity. Phosphorylation at Ser-734 by MAPK1 increases its catalytic activity and promotes cytoplasmic retention of MAPK1. Endoplasmic-stress can cause dephosphorylation at Ser-308.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. DAP kinase subfamily. Pathways in cancer;Bladder cancer;Caspase activation via Dependence Receptors in the absence of ligand PE1 9 +NX_P53365 Arfaptin-2 341 37856 5.72 0 Golgi apparatus;Nucleoplasm;trans-Golgi network membrane;Nucleolus NA Plays a role in constitutive metalloproteinase (MMP) secretion from the trans Golgi network. May have important functions during vesicle biogenesis at certain cargo subdomains, which could be predominantly utilized by secreted MMPs, such as MMP7 and MMP2 (PubMed:26507660). Participates also in autophagy by regulating the starvation-depdendent trafficking of ATG9A vesicles which deliver the PI4-kinase to the autophagosome initiation site (PubMed:31204568). In addition, plays a role in NF-kappa-B inhibition by interacting with IKBKB and IKBKG (PubMed:26296658). NA NA Retrograde transport at the Trans-Golgi-Network PE1 11 +NX_P53367 Arfaptin-1 373 41738 6.24 0 Golgi apparatus;Nucleoplasm;trans-Golgi network membrane;Cytoplasmic vesicle NA Plays a role in controlling biogenesis of secretory granules at the trans-Golgi network. Mechanisitically, binds ARF-GTP at the neck of a growing secretory granule precursor and forms a protective scaffold. Once the granule precursor has been completely loaded, active PRKD1 phosphorylates ARFIP1 and releases it from ARFs. In turn, ARFs induce fission. Through this mechanism, ensures proper secretory granule formation at the Golgi of pancreatic beta cells. Phosphorylated by PRKD1; phosphorylation delocalizes ARFIP1 from the Golgi and disrupts its ability to inhibit the activity of ADP-ribosylation factor, an important component of the vesicle scission machinery. NA NA PE1 4 +NX_P53370 Nucleoside diphosphate-linked moiety X motif 6 316 35679 8.15 0 Cytoplasm;Mitochondrion;Nucleus NA May contribute to the regulation of cell proliferation. NA Belongs to the Nudix hydrolase family. NA PE1 4 +NX_P53384 Cytosolic Fe-S cluster assembly factor NUBP1 320 34534 5.15 0 Cytoplasm;Microtubule organizing center;Centriole;Cell projection;Cilium basal body;Centrosome;Cilium axoneme;Cytosol;Nucleus NA Component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery (PubMed:18573874). Required for maturation of extramitochondrial Fe-S proteins (PubMed:18573874). The NUBP1-NUBP2 heterotetramer forms a Fe-S scaffold complex, mediating the de novo assembly of an Fe-S cluster and its transfer to target apoproteins (PubMed:18573874). Implicated in the regulation of centrosome duplication (By similarity). Negatively regulates cilium formation and structure (By similarity). NA Belongs to the Mrp/NBP35 ATP-binding proteins family. NUBP1/NBP35 subfamily. Cytosolic iron-sulfur cluster assembly PE1 16 +NX_P53396 ATP-citrate synthase 1101 120839 6.95 0 Nucleoplasm;Cytosol;Cell membrane NA Catalyzes the cleavage of citrate into oxaloacetate and acetyl-CoA, the latter serving as common substrate for de novo cholesterol and fatty acid synthesis. Phosphorylated by PKA and GSK3 in a sequential manner; phosphorylation results in activation of its activity (PubMed:10653665). Phosphorylation on Thr-447 and Ser-451 depends on the phosphorylation state of Ser-455 (By similarity). Phosphorylation on Ser-455 is decreased by prior phosphorylation on the other 2 residues (By similarity).;ISGylated.;Acetylated at Lys-540, Lys-546 and Lys-554 by KAT2B/PCAF (PubMed:23932781). Acetylation is promoted by glucose and stabilizes the protein, probably by preventing ubiquitination at the same sites (PubMed:23932781). Acetylation promotes de novo lipid synthesis (PubMed:23932781). Deacetylated by SIRT2.;Ubiquitinated at Lys-540, Lys-546 and Lys-554 by UBR4, leading to its degradation. Ubiquitination is probably inhibited by acetylation at same site (Probable). In the N-terminal section; belongs to the succinate/malate CoA ligase beta subunit family.;In the C-terminal section; belongs to the succinate/malate CoA ligase alpha subunit family. Citrate cycle (TCA cycle);Metabolic pathways;ChREBP activates metabolic gene expression;Fatty acyl-CoA biosynthesis;Neutrophil degranulation PE1 17 +NX_P53420 Collagen alpha-4(IV) chain 1690 164038 8.9 0 Basement membrane Alport syndrome 2, autosomal recessive;Hematuria, benign familial Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens.;Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.;The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues. Belongs to the type IV collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Amoebiasis;Pathways in cancer;Small cell lung cancer;Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Non-integrin membrane-ECM interactions;Laminin interactions;Crosslinking of collagen fibrils;Anchoring fibril formation;Extracellular matrix organization;Collagen chain trimerization PE1 2 +NX_P53539 Protein fosB 338 35928 4.78 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA FosB interacts with Jun proteins enhancing their DNA binding activity. NA Belongs to the bZIP family. Fos subfamily. Osteoclast differentiation;Estrogen-dependent gene expression PE1 19 +NX_P53567 CCAAT/enhancer-binding protein gamma 150 16408 9.77 0 Nucleoplasm;Nucleus NA Transcription factor that binds to the promoter and the enhancer regions of target genes. Binds to the enhancer element PRE-I (positive regulatory element-I) of the IL-4 gene (PubMed:7665092). Binds to the promoter and the enhancer of the immunoglobulin heavy chain. Binds to GPE1, a cis-acting element in the G-CSF gene promoter. NA Belongs to the bZIP family. C/EBP subfamily. Tuberculosis;ATF4 activates genes in response to endoplasmic reticulum stress PE1 19 +NX_P53582 Methionine aminopeptidase 1 386 43215 6.75 0 Nucleoplasm;Cytosol;Cytoplasm;Cell membrane NA Cotranslationally removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met-Ala-, Cys, Gly, Pro, Ser, Thr, or Val). Required for normal progression through the cell cycle. NA Belongs to the peptidase M24A family. Methionine aminopeptidase type 1 subfamily. Inactivation, recovery and regulation of the phototransduction cascade PE1 4 +NX_P53597 Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial 346 36250 9.01 0 Mitochondrion;Cell membrane Mitochondrial DNA depletion syndrome 9 Succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of either ATP or GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The alpha subunit of the enzyme binds the substrates coenzyme A and phosphate, while succinate binding and specificity for either ATP or GTP is provided by different beta subunits. NA Belongs to the succinate/malate CoA ligase alpha subunit family. Carbohydrate metabolism; tricarboxylic acid cycle; succinate from succinyl-CoA (ligase route): step 1/1.;Citrate cycle (TCA cycle);Propanoate metabolism;Metabolic pathways;Citric acid cycle (TCA cycle) PE1 2 +NX_P53602 Diphosphomevalonate decarboxylase 400 43405 6.8 0 Cytosol;Cell junction Porokeratosis 7, multiple types Performs the first committed step in the biosynthesis of isoprenes. NA Belongs to the diphosphomevalonate decarboxylase family. Steroid biosynthesis; cholesterol biosynthesis.;Terpenoid backbone biosynthesis;Metabolic pathways;Cholesterol biosynthesis;Activation of gene expression by SREBF (SREBP);Synthesis of Dolichyl-phosphate PE1 16 +NX_P53609 Geranylgeranyl transferase type-1 subunit beta 377 42368 6.37 0 Endoplasmic reticulum;Nucleoplasm;Cytosol NA Catalyzes the transfer of a geranyl-geranyl moiety from geranyl-geranyl pyrophosphate to a cysteine at the fourth position from the C-terminus of proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X. Known substrates include RAC1, RAC2, RAP1A and RAP1B. NA Belongs to the protein prenyltransferase subunit beta family. NA PE1 5 +NX_P53611 Geranylgeranyl transferase type-2 subunit beta 331 36924 4.89 0 Cytoplasmic vesicle NA Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of Rab proteins with the C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A, RAB3A, RAB5A and RAB7A. NA Belongs to the protein prenyltransferase subunit beta family. TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain;RAB geranylgeranylation PE1 1 +NX_P53618 Coatomer subunit beta 953 107142 5.72 0 Golgi apparatus;Cytoplasm;Endoplasmic reticulum-Golgi intermediate compartment;Cell membrane;COPI-coated vesicle membrane;Golgi apparatus membrane;Cytoplasmic vesicle;Cytosol NA The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors. Plays a functional role in facilitating the transport of kappa-type opioid receptor mRNAs into axons and enhances translation of these proteins. Required for limiting lipid storage in lipid droplets. Involved in lipid homeostasis by regulating the presence of perilipin family members PLIN2 and PLIN3 at the lipid droplet surface and promoting the association of adipocyte surface triglyceride lipase (PNPLA2) with the lipid droplet to mediate lipolysis (By similarity). Involved in the Golgi disassembly and reassembly processes during cell cycle. Involved in autophagy by playing a role in early endosome function. Plays a role in organellar compartmentalization of secretory compartments including endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC), Golgi, trans-Golgi network (TGN) and recycling endosomes, and in biosynthetic transport of CAV1. Promotes degradation of Nef cellular targets CD4 and MHC class I antigens by facilitating their trafficking to degradative compartments. Proteolytically cleaved between Ser-528 and Ser-529 by CAPN8. NA COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;Neutrophil degranulation PE1 11 +NX_P53621 Coatomer subunit alpha 1224 138346 7.7 0 Golgi apparatus;Cytoplasm;Secreted;COPI-coated vesicle membrane;Nucleoplasm;Golgi apparatus membrane;Cytosol Autoimmune interstitial lung, joint, and kidney disease Xenin stimulates exocrine pancreatic secretion. It inhibits pentagastrin-stimulated secretion of acid, to induce exocrine pancreatic secretion and to affect small and large intestinal motility. In the gut, xenin interacts with the neurotensin receptor.;The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity). NA NA COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 1 +NX_P53634 Dipeptidyl peptidase 1 463 51854 6.53 0 Endoplasmic reticulum;Lysosome;Cytoplasmic vesicle Haim-Munk syndrome;Papillon-Lefevre syndrome;Periodontititis, aggressive, 1 Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine proteases such as elastase, cathepsin G and granzymes A and B. Can also activate neuraminidase and factor XIII. N-glycosylated. While glycosylation at Asn-53, Asn-119 and Asn-276 is mediated by STT3A-containing complexes, glycosylation at Asn-29 is mediated STT3B-containing complexes.;In approximately 50% of the complexes the exclusion domain is cleaved at position 58 or 61. The two parts of the exclusion domain are held together by a disulfide bond. Belongs to the peptidase C1 family. Lysosome;MHC class II antigen presentation;COPII-mediated vesicle transport;Cargo concentration in the ER;Neutrophil degranulation PE1 11 +NX_P53667 LIM domain kinase 1 647 72585 6.53 0 Cytoplasm;Nucleus speckle;Lamellipodium;Cytosol;Nucleus NA Has a dominant negative effect on actin cytoskeletal changes. Required for atypical chemokine receptor ACKR2-induced phosphorylation of cofilin (CFL1).;Serine/threonine-protein kinase that plays an essential role in the regulation of actin filament dynamics. Acts downstream of several Rho family GTPase signal transduction pathways. Activated by upstream kinases including ROCK1, PAK1 and PAK4, which phosphorylate LIMK1 on a threonine residue located in its activation loop. LIMK1 subsequently phosphorylates and inactivates the actin binding/depolymerizing factors cofilin-1/CFL1, cofilin-2/CFL2 and destrin/DSTN, thereby preventing the cleavage of filamentous actin (F-actin), and stabilizing the actin cytoskeleton. In this way LIMK1 regulates several actin-dependent biological processes including cell motility, cell cycle progression, and differentiation. Phosphorylates TPPP on serine residues, thereby promoting microtubule disassembly. Stimulates axonal outgrowth and may be involved in brain development. Ubiquitinated. 'Lys-48'-linked polyubiquitination by RNF6 leads to proteasomal degradation through the 26S proteasome, modulating LIMK1 levels in the growth cone and its effect on axonal outgrowth. Also polyubiquitinated by RLIM (By similarity).;Autophosphorylated (By similarity). Phosphorylated on Thr-508 by ROCK1 and PAK1, resulting in activation. Phosphorylated by PAK4 which increases the ability of LIMK1 to phosphorylate cofilin. Phosphorylated at Ser-323 by MAPKAPK2 during activation of VEGFA-induced signaling, which results in activation of LIMK1 and promotion of actin reorganization, cell migration, and tubule formation of endothelial cells. Dephosphorylated and inactivated by SSH1. Phosphorylated by CDC42BP.;LIMK1 is phosphorylated by CDC42BPA (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);LIMK1 is phosphorylated by PAK4 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Axon guidance;Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Regulation of actin dynamics for phagocytic cup formation;EPHB-mediated forward signaling;Sema3A PAK dependent Axon repulsion;Sema4D induced cell migration and growth-cone collapse;RHO GTPases activate PAKs;RHO GTPases Activate ROCKs PE1 7 +NX_P53671 LIM domain kinase 2 638 72232 6.83 0 Cytoplasm;Nucleoplasm;Endoplasmic reticulum;Cytosol;Nucleus NA Displays serine/threonine-specific phosphorylation of myelin basic protein and histone (MBP) in vitro. Phosphorylated on serine and/or threonine residues by ROCK1. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Axon guidance;Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;EPHB-mediated forward signaling;Sema4D induced cell migration and growth-cone collapse;RHO GTPases Activate ROCKs PE1 22 +NX_P53672 Beta-crystallin A2 197 22096 5.94 0 NA Cataract 42 Crystallins are the dominant structural components of the vertebrate eye lens. NA Belongs to the beta/gamma-crystallin family. NA PE1 2 +NX_P53673 Beta-crystallin A4 196 22374 5.83 0 NA Cataract 23, multiple types Crystallins are the dominant structural components of the vertebrate eye lens. NA Belongs to the beta/gamma-crystallin family. NA PE1 22 +NX_P53674 Beta-crystallin B1 252 28023 8.59 0 NA Cataract 17, multiple types Crystallins are the dominant structural components of the vertebrate eye lens. Specific cleavages in the N-terminal arm occur during lens maturation and give rise to truncated forms, leading to impaired oligomerization and protein insolubilization. Belongs to the beta/gamma-crystallin family. NA PE1 22 +NX_P53675 Clathrin heavy chain 2 1640 187030 5.57 0 Coated pit;Cytoplasmic vesicle membrane;Cytoplasmic vesicle NA Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network (By similarity). NA Belongs to the clathrin heavy chain family. Lysosome;Endocytosis;Synaptic vesicle cycle;Endocrine and other factor-regulated calcium reabsorption;Huntington's disease;Bacterial invasion of epithelial cells;EPH-ephrin mediated repulsion of cells;Gap junction degradation;Formation of annular gap junctions;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 22 +NX_P53677 AP-3 complex subunit mu-2 418 46977 7.15 0 Golgi apparatus;Cytoplasmic vesicle membrane NA Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. NA Belongs to the adaptor complexes medium subunit family. Lysosome PE1 8 +NX_P53680 AP-2 complex subunit sigma 142 17018 5.82 0 Coated pit;Cell membrane Hypocalciuric hypercalcemia, familial 3 Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein Transport via Transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity). May also play a role in extracellular calcium homeostasis. NA Belongs to the adaptor complexes small subunit family. Endocytosis;Synaptic vesicle cycle;Endocrine and other factor-regulated calcium reabsorption;Huntington's disease;MHC class II antigen presentation;EPH-ephrin mediated repulsion of cells;Retrograde neurotrophin signalling;Recycling pathway of L1;Nef Mediated CD8 Down-regulation;WNT5A-dependent internalization of FZD4;Nef Mediated CD4 Down-regulation;Trafficking of GluR2-containing AMPA receptors;WNT5A-dependent internalization of FZD2, FZD5 and ROR2;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;VLDLR internalisation and degradation;LDL clearance PE1 19 +NX_P53701 Cytochrome c-type heme lyase 268 30602 6.25 0 Membrane;Mitochondrion inner membrane;Mitochondrion Linear skin defects with multiple congenital anomalies 1 Links covalently the heme group to the apoprotein of cytochrome c. NA Belongs to the cytochrome c-type heme lyase family. Porphyrin and chlorophyll metabolism PE1 X +NX_P53708 Integrin alpha-8 1063 117474 5.37 1 Membrane;Cell membrane Renal hypodysplasia/aplasia 1 Integrin alpha-8/beta-1 functions in the genesis of kidney and probably of other organs by regulating the recruitment of mesenchymal cells into epithelial structures. It recognizes the sequence R-G-D in a wide array of ligands including TNC, FN1, SPP1 TGFB1, TGFB3 and VTN. NPNT is probably its functional ligand in kidney genesis. Neuronal receptor for TNC it mediates cell-cell interactions and regulates neurite outgrowth of sensory and motor neurons. NA Belongs to the integrin alpha chain family. Focal adhesion;ECM-receptor interaction;Cell adhesion molecules (CAMs);Regulation of actin cytoskeleton;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Integrin cell surface interactions;ECM proteoglycans;Molecules associated with elastic fibres PE1 10 +NX_P53778 Mitogen-activated protein kinase 12 367 41940 5.98 0 Cytoplasm;Nucleus speckle;Mitochondrion;Cytosol;Nucleus NA Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK12 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstream kinases such as MAPKAPK2, which are activated through phosphorylation and further phosphorylate additional targets. Plays a role in myoblast differentiation and also in the down-regulation of cyclin D1 in response to hypoxia in adrenal cells suggesting MAPK12 may inhibit cell proliferation while promoting differentiation. Phosphorylates DLG1. Following osmotic shock, MAPK12 in the cell nucleus increases its association with nuclear DLG1, thereby causing dissociation of DLG1-SFPQ complexes. This function is independent of its catalytic activity and could affect mRNA processing and/or gene transcription to aid cell adaptation to osmolarity changes in the environment. Regulates UV-induced checkpoint signaling and repair of UV-induced DNA damage and G2 arrest after gamma-radiation exposure. MAPK12 is involved in the regulation of SLC2A1 expression and basal glucose uptake in L6 myotubes; and negatively regulates SLC2A4 expression and contraction-mediated glucose uptake in adult skeletal muscle. C-Jun (JUN) phosphorylation is stimulated by MAPK14 and inhibited by MAPK12, leading to a distinct AP-1 regulation. MAPK12 is required for the normal kinetochore localization of PLK1, prevents chromosomal instability and supports mitotic cell viability. MAPK12-signaling is also positively regulating the expansion of transient amplifying myogenic precursor cells during muscle growth and regeneration. Ubiquitinated. Ubiquitination leads to degradation by the proteasome pathway.;Dually phosphorylated on Thr-183 and Tyr-185 by MAP2K3/MKK3 and MAP2K6/MKK6, which activates the enzyme.;MAPK12 is phosphorylated by MAP2K7 Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. MAPK signaling pathway;Oocyte meiosis;VEGF signaling pathway;Osteoclast differentiation;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;T cell receptor signaling pathway;Fc epsilon RI signaling pathway;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Dopaminergic synapse;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Amyotrophic lateral sclerosis (ALS);Epithelial cell signaling in Helicobacter pylori infection;Shigellosis;Salmonella infection;Pertussis;Leishmaniasis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Tuberculosis;Hepatitis C;Influenza A;DSCAM interactions;NOD1/2 Signaling Pathway;VEGFA-VEGFR2 Pathway;Activation of PPARGC1A (PGC-1alpha) by phosphorylation;p38MAPK events;Myogenesis PE1 22 +NX_P53779 Mitogen-activated protein kinase 10 464 52585 6.33 0 Membrane;Cytoplasm;Mitochondrion;Nucleus NA Serine/threonine-protein kinase involved in various processes such as neuronal proliferation, differentiation, migration and programmed cell death. Extracellular stimuli such as proinflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK10/JNK3. In turn, MAPK10/JNK3 phosphorylates a number of transcription factors, primarily components of AP-1 such as JUN and ATF2 and thus regulates AP-1 transcriptional activity. Plays regulatory roles in the signaling pathways during neuronal apoptosis. Phosphorylates the neuronal microtubule regulator STMN2. Acts in the regulation of the amyloid-beta precursor protein/APP signaling during neuronal differentiation by phosphorylating APP. Participates also in neurite growth in spiral ganglion neurons. Phosphorylates the CLOCK-ARNTL/BMAL1 heterodimer and plays a role in the photic regulation of the circadian clock (PubMed:22441692). Dually phosphorylated on Thr-221 and Tyr-223 by MAP2K4 and MAP2K7, which activates the enzyme. MAP2K7 shows a strong preference for Thr-221 while MAP2K4 phosphorylates Tyr-223 preferentially. Weakly autophosphorylated on threonine and tyrosine residues in vitro.;Palmitoylation regulates subcellular location and axonal development.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. MAPK signaling pathway;ErbB signaling pathway;Protein processing in endoplasmic reticulum;Wnt signaling pathway;Osteoclast differentiation;Focal adhesion;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Fc epsilon RI signaling pathway;Neurotrophin signaling pathway;Dopaminergic synapse;Insulin signaling pathway;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Adipocytokine signaling pathway;Type II diabetes mellitus;Epithelial cell signaling in Helicobacter pylori infection;Shigellosis;Salmonella infection;Pertussis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Tuberculosis;Hepatitis C;Influenza A;HTLV-I infection;Herpes simplex infection;Pathways in cancer;Colorectal cancer;Pancreatic cancer;Oxidative Stress Induced Senescence;FCERI mediated MAPK activation;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;Activation of the AP-1 family of transcription factors PE1 4 +NX_P53794 Sodium/myo-inositol cotransporter 718 79694 7.01 12 Membrane;Cytosol;Cell membrane NA Prevents intracellular accumulation of high concentrations of myo-inositol (an osmolyte) that result in impairment of cellular function. NA Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. Inositol transporters PE1 21 +NX_P53801 Pituitary tumor-transforming gene 1 protein-interacting protein 180 20324 9.14 1 Golgi apparatus;Cytoplasm;Cell membrane;Nucleus membrane;Membrane;Nucleoplasm;Nucleus NA May facilitate PTTG1 nuclear translocation. NA NA NA PE1 21 +NX_P53803 DNA-directed RNA polymerases I, II, and III subunit RPABC4 58 7004 9.27 0 Nucleoplasm;Nucleus;Nucleolus;Cytoskeleton NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and a small RNAs, such as 5S rRNA and tRNAs, respectively. NA Belongs to the archaeal RpoP/eukaryotic RPC10 RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Cytosolic DNA-sensing pathway;Huntington's disease;Viral Messenger RNA Synthesis;Transcriptional regulation by small RNAs;PIWI-interacting RNA (piRNA) biogenesis;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;Processing of Capped Intron-Containing Pre-mRNA;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;Cytosolic sensors of pathogen-associated DNA;MicroRNA (miRNA) biogenesis;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase II Transcription Elongation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;FGFR2 alternative splicing;RNA polymerase II transcribes snRNA genes;Signaling by FGFR2 IIIa TM;TP53 Regulates Transcription of DNA Repair Genes;Estrogen-dependent gene expression PE1 8 +NX_P53804 E3 ubiquitin-protein ligase TTC3 2025 229869 7.53 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA E3 ubiquitin-protein ligase that mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus. Acts as a terminal regulator of Akt signaling after activation; its phosphorylation by Akt, which is a prerequisite for ubiquitin ligase activity, suggests the existence of a regulation mechanism required to control Akt levels after activation. Catalyzes the formation of 'Lys-48'-polyubiquitin chains. May play a role in neuronal differentiation inhibition via its interaction with CIT. Phosphorylation on Ser-378 by Akt is required for ubiquitin ligase activity. NA Protein modification; protein ubiquitination. PE1 21 +NX_P53805 Calcipressin-1 252 28079 5.09 0 Cytosol NA Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A (PubMed:12809556). Could play a role during central nervous system development (By similarity). Phosphorylation increases its ability to inhibit calcineurin and decreases protein half-life. Belongs to the RCAN family. NA PE1 21 +NX_P53814 Smoothelin 917 99059 9.2 0 Nucleoplasm;Cytoskeleton NA Structural protein of the cytoskeleton. NA Belongs to the smoothelin family. NA PE1 22 +NX_P53816 Phospholipase A and acyltransferase 3 162 17937 7.76 1 Peroxisome membrane;Cytoplasm;Perinuclear region;Cell membrane NA Exhibits both phospholipase A1/2 and acyltransferase activities (PubMed:19615464, PubMed:19047760, PubMed:22825852, PubMed:22605381, PubMed:26503625). Shows phospholipase A1 (PLA1) and A2 (PLA2) activity, catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids (PubMed:19615464, PubMed:19047760, PubMed:22825852, PubMed:22605381, PubMed:22923616). For most substrates, PLA1 activity is much higher than PLA2 activity (PubMed:19615464). Shows O-acyltransferase activity,catalyzing the transfer of a fatty acyl group from glycerophospholipid to the hydroxyl group of lysophospholipid (PubMed:19615464). Shows N-acyltransferase activity, catalyzing the calcium-independent transfer of a fatty acyl group at the sn-1 position of phosphatidylcholine (PC) and other glycerophospholipids to the primary amine of phosphatidylethanolamine (PE), forming N-acylphosphatidylethanolamine (NAPE), which serves as precursor for N-acylethanolamines (NAEs) (PubMed:19615464, PubMed:19047760, PubMed:22825852, PubMed:22605381). Exhibits high N-acyltransferase activity and low phospholipase A1/2 activity (PubMed:22825852).;(Microbial infection) Acts as a host factor for picornaviruses: required during early infection to promote viral genome release into the cytoplasm (PubMed:28077878). May act as a cellular sensor of membrane damage at sites of virus entry, which relocalizes to sites of membrane rupture upon virus unfection (PubMed:28077878). Facilitates safe passage of the RNA away from LGALS8, enabling viral genome translation by host ribosome (PubMed:28077878). May also be involved in initiating pore formation, increasing pore size or in maintaining pores for genome delivery (PubMed:28077878). The lipid-modifying enzyme activity is required for this process (PubMed:28077878). NA Belongs to the H-rev107 family. Acyl chain remodelling of PC;Acyl chain remodelling of PS;Acyl chain remodelling of PE;Acyl chain remodelling of PI PE1 11 +NX_P53985 Monocarboxylate transporter 1 500 53944 8.91 12 Cell junction;Cell membrane Symptomatic deficiency in lactate transport;Monocarboxylate transporter 1 deficiency;Familial hyperinsulinemic hypoglycemia 7 Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Depending on the tissue and on cicumstances, mediates the import or export of lactic acid and ketone bodies. Required for normal nutrient assimilation, increase of white adipose tissue and body weight gain when on a high-fat diet. Plays a role in cellular responses to a high-fat diet by modulating the cellular levels of lactate and pyruvate, small molecules that contribute to the regulation of central metabolic pathways and insulin secretion, with concomitant effects on plasma insulin levels and blood glucose homeostasis. NA Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. Pyruvate metabolism;Basigin interactions;Proton-coupled monocarboxylate transport;Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) PE1 1 +NX_P53990 IST1 homolog 364 39751 5.22 0 Cytoplasmic vesicle;Centrosome;Nucleus envelope;Midbody NA ESCRT-III-like protein involved in specific functions of the ESCRT machinery. Is required for efficient abscission during cytokinesis, but not for HIV-1 budding. The involvement in the MVB pathway is not established. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells (PubMed:19129479, PubMed:19129480). During late anaphase, involved in nuclear envelope reassembly and mitotic spindle disassembly together with the ESCRT-III complex: IST1 acts by mediating the recruitment of SPAST to the nuclear membrane, leading to microtubule severing (PubMed:26040712). Regulates early endosomal tubulation together with the ESCRT-III complex by mediating the recruitment of SPAST (PubMed:23897888). NA Belongs to the IST1 family. Neutrophil degranulation PE1 16 +NX_P53992 Protein transport protein Sec24C 1094 118325 6.71 0 Golgi apparatus;Cytoplasm;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Cytoplasmic vesicle;Cytosol NA Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:10214955, PubMed:17499046, PubMed:18843296, PubMed:20427317). Plays a central role in cargo selection within the COPII complex and together with SEC24D may have a different specificity compared to SEC24A and SEC24B (PubMed:17499046, PubMed:20427317, PubMed:18843296). May more specifically package GPI-anchored proteins through the cargo receptor TMED10 (PubMed:20427317). May also be specific for IxM motif-containing cargos like the SNAREs GOSR2 and STX5 (PubMed:18843296). NA Belongs to the SEC23/SEC24 family. SEC24 subfamily. Protein processing in endoplasmic reticulum;MHC class II antigen presentation;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;Regulation of cholesterol biosynthesis by SREBP (SREBF);COPII-mediated vesicle transport;Cargo concentration in the ER PE1 10 +NX_P53999 Activated RNA polymerase II transcriptional coactivator p15 127 14395 9.6 0 Nucleoplasm;Nucleus;Nucleolus NA General coactivator that functions cooperatively with TAFs and mediates functional interactions between upstream activators and the general transcriptional machinery. May be involved in stabilizing the multiprotein transcription complex. Binds single-stranded DNA. Also binds, in vitro, non-specifically to double-stranded DNA (ds DNA). Activity is controlled by protein kinases that target the regulatory region. Phosphorylation inactivates both ds DNA-binding and cofactor function, but does not affect binding to ssDNA. Seems to be phosphorylated in vivo by CK2 in at least 7 sites in the N-terminal Ser-rich region. Belongs to the transcriptional coactivator PC4 family. NA PE1 5 +NX_P54098 DNA polymerase subunit gamma-1 1239 139562 6.46 0 Mitochondrion;Mitochondrion nucleoid Sensory ataxic neuropathy dysarthria and ophthalmoparesis;Leigh syndrome;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1;Mitochondrial DNA depletion syndrome 4A;Mitochondrial DNA depletion syndrome 4B;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1;Spinocerebellar ataxia with epilepsy Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA. NA Belongs to the DNA polymerase type-A family. Metabolic pathways PE1 15 +NX_P54105 Methylosome subunit pICln 237 26215 3.97 0 Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA Involved in both the assembly of spliceosomal snRNPs and the methylation of Sm proteins (PubMed:21081503, PubMed:18984161). Chaperone that regulates the assembly of spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. May also indirectly participate in cellular volume control by activation of a swelling-induced chloride conductance pathway. NA Belongs to the pICln (TC 1.A.47) family. RNA transport;snRNP Assembly PE1 11 +NX_P54107 Cysteine-rich secretory protein 1 249 28481 5.57 0 NA NA May have a role in sperm-egg fusion and maturation. NA Belongs to the CRISP family. NA PE1 6 +NX_P54108 Cysteine-rich secretory protein 3 245 27630 8.09 0 Secreted NA NA NA Belongs to the CRISP family. Neutrophil degranulation PE1 6 +NX_P54132 Bloom syndrome protein 1417 159000 7.33 0 Nucleoplasm;Cytosol;Nucleus Bloom syndrome ATP-dependent DNA helicase that unwinds single- and double-stranded DNA in a 3'-5' direction (PubMed:9388193, PubMed:24816114, PubMed:25901030). Participates in DNA replication and repair (PubMed:12019152, PubMed:21325134, PubMed:23509288). Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA (PubMed:21325134). Negatively regulates sister chromatid exchange (SCE) (PubMed:25901030). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution (PubMed:25901030). Binds single-stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction (PubMed:20639533, PubMed:24257077, PubMed:25901030). Phosphorylated in response to DNA damage. Phosphorylation requires the FANCA-FANCC-FANCE-FANCF-FANCG protein complex, as well as the presence of RMI1.;BLM is phosphorylated by MAPK3;BLM is phosphorylated by CHEK1 Belongs to the helicase family. RecQ subfamily. Homologous recombination;Fanconi anemia pathway;SUMOylation of DNA damage response and repair proteins;Meiotic recombination;G2/M DNA damage checkpoint;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Regulation of TP53 Activity through Phosphorylation PE1 15 +NX_P54136 Arginine--tRNA ligase, cytoplasmic 660 75379 6.26 0 Nucleoplasm;Cytoplasm;Cytosol Leukodystrophy, hypomyelinating, 9 Forms part of a macromolecular complex that catalyzes the attachment of specific amino acids to cognate tRNAs during protein synthesis (PubMed:25288775). Modulates the secretion of AIMP1 and may be involved in generation of the inflammatory cytokine EMAP2 from AIMP1 (PubMed:17443684). NA Belongs to the class-I aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Cytosolic tRNA aminoacylation;Selenoamino acid metabolism PE1 5 +NX_P54198 Protein HIRA 1017 111835 8.4 0 Nucleoplasm;PML body;Nucleus NA Cooperates with ASF1A to promote replication-independent chromatin assembly. Required for the periodic repression of histone gene transcription during the cell cycle. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit. Sumoylated.;Phosphorylated by CDK2/CCNA1 and CDK2/CCNE1 on Thr-555 in vitro. Also phosphorylated on Thr-555 and Ser-687 in vivo. Belongs to the WD repeat HIR1 family. Formation of Senescence-Associated Heterochromatin Foci (SAHF) PE1 22 +NX_P54219 Chromaffin granule amine transporter 525 56257 5.6 12 Cytoplasmic vesicle membrane;Synaptic vesicle membrane;Endoplasmic reticulum membrane NA Involved in the transport of biogenic monoamines, such as serotonin, from the cytoplasm into the secretory vesicles of neuroendocrine and endocrine cells. NA Belongs to the major facilitator superfamily. Vesicular transporter family. Synaptic vesicle cycle;Dopaminergic synapse;Parkinson's disease;Na+/Cl- dependent neurotransmitter transporters PE1 8 +NX_P54252 Ataxin-3 361 41250 4.69 0 Cell membrane;Nucleus matrix;Nucleolus;Nucleoplasm;Nucleus Spinocerebellar ataxia 3 Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (PubMed:12297501, PubMed:17696782, PubMed:23625928, PubMed:28445460, PubMed:16118278). Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins (PubMed:17696782). Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (By similarity). Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription (PubMed:12297501). Regulates autophagy via the deubiquitination of 'Lys-402' of BECN1 leading to the stabilization of BECN1 (PubMed:28445460). Monoubiquitinated N-terminally by UBE2W, possibly leading to activate the deubiquitinating enzyme activity (PubMed:23696636). NA Protein processing in endoplasmic reticulum;Josephin domain DUBs;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 14 +NX_P54253 Ataxin-1 815 86923 8.49 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus Spinocerebellar ataxia 1 Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism (PubMed:21475249). In concert with CIC and ATXN1L, involved in brain development (By similarity). Sumoylation is dependent on nuclear localization and phosphorylation at Ser-775. It is reduced in the presence of an expanded polyglutamine tract.;Phosphorylation at Ser-775 increases the pathogenicity of proteins with an expanded polyglutamine tract.;Ubiquitinated by UBE3A, leading to its degradation by the proteasome. The presence of expanded poly-Gln repeats in spinocerebellar ataxia 1 (SCA1) patients impairs ubiquitination and degradation, leading to accumulation of ATXN1 in neurons and subsequent toxicity. Belongs to the ATXN1 family. NA PE1 6 +NX_P54257 Huntingtin-associated protein 1 671 75506 4.68 0 Cytoplasm;Dendritic spine;Mitochondrion;Neuron projection;Early endosome;Growth cone;Nucleolus;Endoplasmic reticulum;Presynapse;Autophagosome;Lysosome;Cytosol;Axon;Dendrite;Synaptic vesicle;Nucleus;Cytoskeleton NA Originally identified as neuronal protein that specifically associates with HTT/huntingtin and the binding is enhanced by an expanded polyglutamine repeat within HTT possibly affecting HAP1 interaction properties. Both HTT and HAP1 are involved in intracellular trafficking and HAP1 is proposed to link HTT to motor proteins and/or transport cargos. Seems to play a role in vesicular transport within neurons and axons such as from early endosomes to late endocytic compartments and to promote neurite outgrowth. The vesicular transport function via association with microtubule-dependent transporters can be attenuated by association with mutant HTT. Involved in the axonal transport of BDNF and its activity-dependent secretion; the function seems to involve HTT, DCTN1 and a complex with SORT1. Involved in APP trafficking and seems to facilitate APP anterograde transport and membrane insertion thereby possibly reducing processing into amyloid beta. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptors to synapses; the function is dependent on kinesin motor protein KIF5 and is disrupted by HTT with expanded polyglutamine repeat. Involved in regulation of autophagosome motility by promoting efficient retrograde axonal transport. Seems to be involved in regulation of membrane receptor recycling and degradation, and respective signal transduction, including GABA(A) receptors, tyrosine kinase receptors, EGFR, IP3 receptor and androgen receptor. Among others suggested to be involved in control of feeding behavior (involving hypothalamic GABA(A) receptors), cerebellar and brainstem development (involving AHI1 and NTRK1/TrkA), postnatal neurogenesis (involving hypothalamic NTRK2/TrkB), and ITPR1/InsP3R1-mediated Ca(2+) release (involving HTT and possibly the effect of mutant HTT). Via association with DCTN1/dynactin p150-glued and HTT/huntingtin involved in cytoplasmic retention of REST in neurons. May be involved in ciliogenesis. Involved in regulation of exocytosis. Seems to be involved in formation of cytoplasmic inclusion bodies (STBs). In case of anomalous expression of TBP, can sequester a subset of TBP into STBs; sequestration is enhanced by an expanded polyglutamine repeat within TBP. HAP1-containing STBs have been proposed to play a protective role against neurodegeneration in Huntigton disease (HD) and spinocerebellar ataxia 17 (SCA17). NA NA GABAergic synapse;Huntington's disease PE1 17 +NX_P54259 Atrophin-1 1190 125414 9.01 0 Nucleoplasm;Cell junction;Perinuclear region;Nucleus Dentatorubral-pallidoluysian atrophy Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is independent of the number of poly-Gln (polyQ) repeats. Phosphorylated in vitro by MAPK8/JNK1 on Ser-739. Mutant ATN1 sequences with expanded poly-Gln (polyQ) traits are more slowly phosphorylated.;Proteolytically cleaved, probably in the nucleus, to produce two C-terminal fragments of 140 kDa (F1) and 125 kDa (F2) each containing poly-Gln (polyQ) tracts. F2 is produced by cleavage by caspases and is exported into the cytoplasm. In vitro, cleavage increases with an increase in the number of polyQ tracts. C-terminal proteolytic products appear to be the cause of cell toxicity. In vitro cleavage at Asp-109. NA Regulation of PTEN gene transcription PE1 12 +NX_P54274 Telomeric repeat-binding factor 1 439 50246 5.99 0 Nucleolus;Spindle;Telomere;Nucleus NA Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and negatively regulates telomere length. Involved in the regulation of the mitotic spindle. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5'-TTAGGG-3' repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Phosphorylated preferentially on Ser-219 in an ATM-dependent manner in response to ionizing DNA damage.;Ubiquitinated by RLIM/RNF12, leading to its degradation by the proteasome. Ubiquitinated by a SCF (SKP1-CUL1-F-box protein) ubiquitin-protein ligase complex, leading to its degradation by the proteasome.;ADP-ribosylation by TNKS1 or TNKS2 diminishes its ability to bind to telomeric DNA. NA Meiotic synapsis;Packaging Of Telomere Ends;DNA Damage/Telomere Stress Induced Senescence;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine PE1 8 +NX_P54277 PMS1 protein homolog 1 932 105830 6.23 0 Nucleoplasm;Nucleus NA Probably involved in the repair of mismatches in DNA. NA Belongs to the DNA mismatch repair MutL/HexB family. NA PE1 2 +NX_P54278 Mismatch repair endonuclease PMS2 862 95797 6.4 0 Nucleus Hereditary non-polyposis colorectal cancer 4;Mismatch repair cancer syndrome Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. NA Belongs to the DNA mismatch repair MutL/HexB family. Mismatch repair;Fanconi anemia pathway;Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha);Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta);TP53 Regulates Transcription of DNA Repair Genes;Defective Mismatch Repair Associated With MLH1;Defective Mismatch Repair Associated With PMS2 PE1 7 +NX_P54284 Voltage-dependent L-type calcium channel subunit beta-3 484 54532 5.93 0 Golgi apparatus;Cytoplasm;Cytoplasmic vesicle NA Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8119293). Increases CACNA1B peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity). Increases CACNA1C peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity). CACNB3 is phosphorylated by CAMK2D (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the calcium channel beta subunit family. MAPK signaling pathway;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;NCAM1 interactions;Adrenaline,noradrenaline inhibits insulin secretion;Presynaptic depolarization and calcium channel opening;Regulation of insulin secretion;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 12 +NX_P54289 Voltage-dependent calcium channel subunit alpha-2/delta-1 1103 124568 5.12 1 Membrane;Cytoplasm NA The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling (By similarity). Proteolytically processed into subunits alpha-2-1 and delta-1 that are disulfide-linked. Belongs to the calcium channel subunit alpha-2/delta family. MAPK signaling pathway;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 7 +NX_P54296 Myomesin-2 1465 164896 5.82 0 Mitochondrion;M line NA Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent. NA NA NA PE1 8 +NX_P54315 Inactive pancreatic lipase-related protein 1 467 51848 5.47 0 Secreted NA May function as inhibitor of dietary triglyceride digestion. Lacks detectable lipase activity towards triglycerides, diglycerides, phosphatidylcholine, galactolipids or cholesterol esters (in vitro) (By similarity). NA Belongs to the AB hydrolase superfamily. Lipase family. Glycerolipid metabolism;Metabolic pathways;Pancreatic secretion;Fat digestion and absorption;Digestion of dietary lipid PE1 10 +NX_P54317 Pancreatic lipase-related protein 2 469 51961 5.27 0 Secreted NA Lipase with broad substrate specificity. Can hydrolyze both phospholipids and galactolipids. Acts preferentially on monoglycerides, phospholipids and galactolipids. Contributes to milk fat hydrolysis. NA Belongs to the AB hydrolase superfamily. Lipase family. Glycerolipid metabolism;Metabolic pathways;Pancreatic secretion;Fat digestion and absorption;Digestion of dietary lipid PE1 10 +NX_P54368 Ornithine decarboxylase antizyme 1 228 25406 7.12 0 Cytoplasmic vesicle;Centriolar satellite NA Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimer, and targets the monomers for ubiquitin-independent proteolytic destruction by the 26S proteasome (PubMed:17900240, PubMed:26305948, PubMed:26443277). Triggers ODC degradation by inducing the exposure of a cryptic proteasome-interacting surface of ODC (PubMed:26305948). Stabilizes AZIN2 by interfering with its ubiquitination (PubMed:17900240). Also inhibits cellular uptake of polyamines by inactivating the polyamine uptake transporter. SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. Involved in the translocation of AZIN2 from ER-Golgi intermediate compartment (ERGIC) to the cytosol (PubMed:12097147). NA Belongs to the ODC antizyme family. Regulation of ornithine decarboxylase (ODC) PE1 19 +NX_P54577 Tyrosine--tRNA ligase, cytoplasmic 528 59143 6.61 0 Cytoplasm;Cytosol Charcot-Marie-Tooth disease, dominant, intermediate type, C Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr). NA Belongs to the class-I aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Cytosolic tRNA aminoacylation PE1 1 +NX_P54578 Ubiquitin carboxyl-terminal hydrolase 14 494 56069 5.2 0 Cytoplasm;Cytosol;Cell membrane NA Proteasome-associated deubiquitinase which releases ubiquitin from the proteasome targeted ubiquitinated proteins. Ensures the regeneration of ubiquitin at the proteasome. Is a reversibly associated subunit of the proteasome and a large fraction of proteasome-free protein exists within the cell. Required for the degradation of the chemokine receptor CXCR4 which is critical for CXCL12-induced cell chemotaxis. Serves also as a physiological inhibitor of endoplasmic reticulum-associated degradation (ERAD) under the non-stressed condition by inhibiting the degradation of unfolded endoplasmic reticulum proteins via interaction with ERN1. Indispensable for synaptic development and function at neuromuscular junctions (NMJs). Plays a role in the innate immune defense against viruses by stabilizing the viral DNA sensor CGAS and thus inhibiting its autophagic degradation. NA Belongs to the peptidase C19 family. USP14/UBP6 subfamily. Ub-specific processing proteases PE1 18 +NX_P54619 5'-AMP-activated protein kinase subunit gamma-1 331 37579 6.42 0 Nucleoplasm;Cytosol NA AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive. Phosphorylated by ULK1 and ULK2; leading to negatively regulate AMPK activity and suggesting the existence of a regulatory feedback loop between ULK1, ULK2 and AMPK.;PRKAG1 is phosphorylated by ULK2 Belongs to the 5'-AMP-activated protein kinase gamma subunit family. Insulin signaling pathway;Adipocytokine signaling pathway;Hypertrophic cardiomyopathy (HCM);Macroautophagy;Translocation of SLC2A4 (GLUT4) to the plasma membrane;TP53 Regulates Metabolic Genes;Activation of PPARGC1A (PGC-1alpha) by phosphorylation;Energy dependent regulation of mTOR by LKB1-AMPK;Regulation of TP53 Activity through Phosphorylation;Activation of AMPK downstream of NMDARs;Lipophagy PE1 12 +NX_P54646 5'-AMP-activated protein kinase catalytic subunit alpha-2 552 62320 7.65 0 Golgi apparatus;Cytoplasm;Nucleus speckle;Nucleus NA Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Regulates lipid synthesis by phosphorylating and inactivating lipid metabolic enzymes such as ACACA, ACACB, GYS1, HMGCR and LIPE; regulates fatty acid and cholesterol synthesis by phosphorylating acetyl-CoA carboxylase (ACACA and ACACB) and hormone-sensitive lipase (LIPE) enzymes, respectively. Regulates insulin-signaling and glycolysis by phosphorylating IRS1, PFKFB2 and PFKFB3. Involved in insulin receptor/INSR internalization (PubMed:25687571). AMPK stimulates glucose uptake in muscle by increasing the translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane, possibly by mediating phosphorylation of TBC1D4/AS160. Regulates transcription and chromatin structure by phosphorylating transcription regulators involved in energy metabolism such as CRTC2/TORC2, FOXO3, histone H2B, HDAC5, MEF2C, MLXIPL/ChREBP, EP300, HNF4A, p53/TP53, SREBF1, SREBF2 and PPARGC1A. Acts as a key regulator of glucose homeostasis in liver by phosphorylating CRTC2/TORC2, leading to CRTC2/TORC2 sequestration in the cytoplasm. In response to stress, phosphorylates 'Ser-36' of histone H2B (H2BS36ph), leading to promote transcription. Acts as a key regulator of cell growth and proliferation by phosphorylating TSC2, RPTOR and ATG1/ULK1: in response to nutrient limitation, negatively regulates the mTORC1 complex by phosphorylating RPTOR component of the mTORC1 complex and by phosphorylating and activating TSC2. In response to nutrient limitation, promotes autophagy by phosphorylating and activating ATG1/ULK1. In that process also activates WDR45 (PubMed:28561066). AMPK also acts as a regulator of circadian rhythm by mediating phosphorylation of CRY1, leading to destabilize it. May regulate the Wnt signaling pathway by phosphorylating CTNNB1, leading to stabilize it. Also phosphorylates CFTR, EEF2K, KLC1, NOS3 and SLC12A1. Plays an important role in the differential regulation of pro-autophagy (composed of PIK3C3, BECN1, PIK3R4 and UVRAG or ATG14) and non-autophagy (composed of PIK3C3, BECN1 and PIK3R4) complexes, in response to glucose starvation. Can inhibit the non-autophagy complex by phosphorylating PIK3C3 and can activate the pro-autophagy complex by phosphorylating BECN1 (By similarity). Phosphorylated at Thr-172 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Also phosphorylated at Thr-172 by CAMKK2; triggered by a rise in intracellular calcium ions, without detectable changes in the AMP/ATP ratio. CAMKK1 can also phosphorylate Thr-172, but at much lower level. Dephosphorylated by protein phosphatase 2A and 2C (PP2A and PP2C). Phosphorylated by ULK1; leading to negatively regulate AMPK activity and suggesting the existence of a regulatory feedback loop between ULK1 and AMPK. Dephosphorylated by PPM1A and PPM1B at Thr-172 (mediated by STK11/LKB1).;Ubiquitinated. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily. Regulation of autophagy;mTOR signaling pathway;Insulin signaling pathway;Adipocytokine signaling pathway;Hypertrophic cardiomyopathy (HCM);Macroautophagy;Translocation of SLC2A4 (GLUT4) to the plasma membrane;TP53 Regulates Metabolic Genes;Activation of PPARGC1A (PGC-1alpha) by phosphorylation;Energy dependent regulation of mTOR by LKB1-AMPK;AMPK inhibits chREBP transcriptional activation activity;Import of palmitoyl-CoA into the mitochondrial matrix;Regulation of TP53 Activity through Phosphorylation;Activation of AMPK downstream of NMDARs;Lipophagy PE1 1 +NX_P54652 Heat shock-related 70 kDa protein 2 639 70021 5.56 0 Spindle NA Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones. The affinity for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. It goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release (PubMed:26865365). Plays a role in spermatogenesis. In association with SHCBP1L may participate in the maintenance of spindle integrity during meiosis in male germ cells (By similarity). NA Belongs to the heat shock protein 70 family. Spliceosome;MAPK signaling pathway;Protein processing in endoplasmic reticulum;Endocytosis;Antigen processing and presentation;Legionellosis;Toxoplasmosis;Measles;Influenza A;Regulation of HSF1-mediated heat shock response;Meiotic synapsis;Attenuation phase;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 14 +NX_P54687 Branched-chain-amino-acid aminotransferase, cytosolic 386 42966 5.17 0 Cytoplasm NA Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. NA Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family. Valine, leucine and isoleucine degradation;Valine, leucine and isoleucine biosynthesis;Pantothenate and CoA biosynthesis;Metabolic pathways;Branched-chain amino acid catabolism PE1 12 +NX_P54707 Potassium-transporting ATPase alpha chain 2 1039 115511 6.12 10 Membrane NA Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for potassium absorption in various tissues. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. Oxidative phosphorylation;Ion transport by P-type ATPases PE1 13 +NX_P54709 Sodium/potassium-transporting ATPase subunit beta-3 279 31513 8.58 1 Melanosome;Cell membrane NA This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-3 subunit is not known. NA Belongs to the X(+)/potassium ATPases subunit beta family. Cardiac muscle contraction;Aldosterone-regulated sodium reabsorption;Endocrine and other factor-regulated calcium reabsorption;Proximal tubule bicarbonate reclamation;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Carbohydrate digestion and absorption;Protein digestion and absorption;Bile secretion;Mineral absorption;Ion transport by P-type ATPases;Basigin interactions;Ion homeostasis PE1 3 +NX_P54710 Sodium/potassium-transporting ATPase subunit gamma 66 7283 7.88 1 Membrane;Mitochondrion Hypomagnesemia 2 May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase. NA Belongs to the FXYD family. Cardiac muscle contraction;Aldosterone-regulated sodium reabsorption;Endocrine and other factor-regulated calcium reabsorption;Proximal tubule bicarbonate reclamation;Salivary secretion;Pancreatic secretion;Carbohydrate digestion and absorption;Protein digestion and absorption;Bile secretion;Mineral absorption;Ion transport by P-type ATPases;Ion homeostasis PE1 11 +NX_P54725 UV excision repair protein RAD23 homolog A 363 39609 4.56 0 Nucleoplasm;Cytosol;Nucleus NA Multiubiquitin chain receptor involved in modulation of proteasomal degradation. Binds to 'Lys-48'-linked polyubiquitin chains in a length-dependent manner and with a lower affinity to 'Lys-63'-linked polyubiquitin chains. Proposed to be capable to bind simultaneously to the 26S proteasome and to polyubiquitinated substrates and to deliver ubiquitinated proteins to the proteasome.;Involved in nucleotide excision repair and is thought to be functional equivalent for RAD23B in global genome nucleotide excision repair (GG-NER) by association with XPC. In vitro, the XPC:RAD23A dimer has NER activity. Can stabilize XPC.;(Microbial infection) Involved in Vpr-dependent replication of HIV-1 in non-proliferating cells and primary macrophages. Required for the association of HIV-1 Vpr with the host proteasome. NA Belongs to the RAD23 family. Nucleotide excision repair;Protein processing in endoplasmic reticulum;DNA Damage Recognition in GG-NER;Formation of Incision Complex in GG-NER;Josephin domain DUBs PE1 19 +NX_P54727 UV excision repair protein RAD23 homolog B 409 43171 4.79 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Multiubiquitin chain receptor involved in modulation of proteasomal degradation. Binds to polyubiquitin chains. Proposed to be capable to bind simultaneously to the 26S proteasome and to polyubiquitinated substrates and to deliver ubiquitinated proteins to the proteasome. May play a role in endoplasmic reticulum-associated degradation (ERAD) of misfolded glycoproteins by association with PNGase and delivering deglycosylated proteins to the proteasome.;Involved in global genome nucleotide excision repair (GG-NER) by acting as component of the XPC complex. Cooperatively with CETN2 appears to stabilize XPC. May protect XPC from proteasomal degradation.;The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition) complex. The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA helix such as single-stranded loops, mismatched bubbles or single-stranded overhangs. The orientation of XPC complex binding appears to be crucial for inducing a productive NER. XPC complex is proposed to recognize and to interact with unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequent scanning for lesions in the opposite strand in a 5'-to-3' direction by the NER machinery. Cyclobutane pyrimidine dimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC complex due to a low degree of structural perurbation. Instead they are detected by the UV-DDB complex which in turn recruits and cooperates with the XPC complex in the respective DNA repair. In vitro, the XPC:RAD23B dimer is sufficient to initiate NER; it preferentially binds to cisplatin and UV-damaged double-stranded DNA and also binds to a variety of chemically and structurally diverse DNA adducts. XPC:RAD23B contacts DNA both 5' and 3' of a cisplatin lesion with a preference for the 5' side. XPC:RAD23B induces a bend in DNA upon binding. XPC:RAD23B stimulates the activity of DNA glycosylases TDG and SMUG1. NA Belongs to the RAD23 family. Nucleotide excision repair;Protein processing in endoplasmic reticulum;N-glycan trimming in the ER and Calnexin/Calreticulin cycle;DNA Damage Recognition in GG-NER;Formation of Incision Complex in GG-NER;Josephin domain DUBs PE1 9 +NX_P54750 Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A 535 61252 5.72 0 Cytoplasm;Nucleoplasm NA Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Has a higher affinity for cGMP than for cAMP. NA Belongs to the cyclic nucleotide phosphodiesterase family. PDE1 subfamily. Purine metabolism;Calcium signaling pathway;Taste transduction;G alpha (s) signalling events;cGMP effects;Cam-PDE 1 activation PE1 2 +NX_P54753 Ephrin type-B receptor 3 998 110330 5.95 1 Dendrite;Cell membrane NA Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Generally has an overlapping and redundant function with EPHB2. Like EPHB2, functions in axon guidance during development regulating for instance the neurons forming the corpus callosum and the anterior commissure, 2 major interhemispheric connections between the temporal lobes of the cerebral cortex. In addition to its role in axon guidance plays also an important redundant role with other ephrin-B receptors in development and maturation of dendritic spines and the formation of excitatory synapses. Controls other aspects of development through regulation of cell migration and positioning. This includes angiogenesis, palate development and thymic epithelium development for instance. Forward and reverse signaling through the EFNB2/EPHB3 complex also regulate migration and adhesion of cells that tubularize the urethra and septate the cloaca. Finally, plays an important role in intestinal epithelium differentiation segregating progenitor from differentiated cells in the crypt. Phosphorylated. Autophosphorylates upon ligand-binding. Autophosphorylation on Tyr-614 is required for interaction with SH2 domain-containing proteins. Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. Axon guidance;EPH-Ephrin signaling;EPHB-mediated forward signaling;Ephrin signaling;EPH-ephrin mediated repulsion of cells PE1 3 +NX_P54756 Ephrin type-A receptor 5 1037 114803 6.53 1 Endoplasmic reticulum;Axon;Dendrite;Cell membrane NA Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Among GPI-anchored ephrin-A ligands, EFNA5 most probably constitutes the cognate/functional ligand for EPHA5. Functions as an axon guidance molecule during development and may be involved in the development of the retinotectal, entorhino-hippocampal and hippocamposeptal pathways. Together with EFNA5 plays also a role in synaptic plasticity in adult brain through regulation of synaptogenesis. In addition to its function in the nervous system, the interaction of EPHA5 with EFNA5 mediates communication between pancreatic islet cells to regulate glucose-stimulated insulin secretion (By similarity). Phosphorylated. Phosphorylation is stimulated by the ligand EFNA5. Dephosphorylation upon stimulation by glucose, inhibits EPHA5 forward signaling and results in insulin secretion (By similarity).;Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. Axon guidance;EPH-Ephrin signaling;EPH-ephrin mediated repulsion of cells;EPHA-mediated growth cone collapse PE1 4 +NX_P54760 Ephrin type-B receptor 4 987 108270 6.48 1 Cell membrane Lymphatic malformation 7;Capillary malformation-arteriovenous malformation 2 Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Together with its cognate ligand/functional ligand EFNB2 it is involved in the regulation of cell adhesion and migration, and plays a central role in heart morphogenesis, angiogenesis and blood vessel remodeling and permeability. EPHB4-mediated forward signaling controls cellular repulsion and segregation from EFNB2-expressing cells. Phosphorylated; autophosphorylation is stimulated by EFNB2.;Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. Axon guidance;EPH-Ephrin signaling;EPHB-mediated forward signaling;Ephrin signaling;EPH-ephrin mediated repulsion of cells PE1 7 +NX_P54762 Ephrin type-B receptor 1 984 109885 6.03 1 Cell membrane;Endoplasmic reticulum;Early endosome membrane;Cytosol;Dendrite NA Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Cognate/functional ephrin ligands for this receptor include EFNB1, EFNB2 and EFNB3. During nervous system development, regulates retinal axon guidance redirecting ipsilaterally ventrotemporal retinal ganglion cells axons at the optic chiasm midline. This probably requires repulsive interaction with EFNB2. In the adult nervous system together with EFNB3, regulates chemotaxis, proliferation and polarity of the hippocampus neural progenitors. In addition to its role in axon guidance plays also an important redundant role with other ephrin-B receptors in development and maturation of dendritic spines and synapse formation. May also regulate angiogenesis. More generally, may play a role in targeted cell migration and adhesion. Upon activation by EFNB1 and probably other ephrin-B ligands activates the MAPK/ERK and the JNK signaling cascades to regulate cell migration and adhesion respectively. Involved in the maintenance of the pool of satellite cells (muscle stem cells) by promoting their self-renewal and reducing their activation and differentiation (By similarity). Ubiquitinated; (EFNB1)ligand-induced poly- and/or multi-ubiquitination by CBL is regulated by SRC and leads to lysosomal degradation.;Phosphorylated. Autophosphorylation is stimulated by the ligand EFNB1. Required for interaction with SH2 domain-containing interactors, for activation of the MAPK/ERK and JUN signaling cascades and for ubiquitination by CBL.;Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. Axon guidance;EPH-Ephrin signaling;EPHB-mediated forward signaling;Ephrin signaling;EPH-ephrin mediated repulsion of cells PE1 3 +NX_P54764 Ephrin type-A receptor 4 986 109860 6.21 1 Cell membrane;Early endosome;Adherens junction;Postsynaptic density;Axon;Dendrite NA Receptor tyrosine kinase which binds membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Highly promiscuous, it has the unique property among Eph receptors to bind and to be physiologically activated by both GPI-anchored ephrin-A and transmembrane ephrin-B ligands including EFNA1 and EFNB3. Upon activation by ephrin ligands, modulates cell morphology and integrin-dependent cell adhesion through regulation of the Rac, Rap and Rho GTPases activity. Plays an important role in the development of the nervous system controlling different steps of axonal guidance including the establishment of the corticospinal projections. May also control the segregation of motor and sensory axons during neuromuscular circuit development. In addition to its role in axonal guidance plays a role in synaptic plasticity. Activated by EFNA1 phosphorylates CDK5 at 'Tyr-15' which in turn phosphorylates NGEF regulating RHOA and dendritic spine morphogenesis. In the nervous system, plays also a role in repair after injury preventing axonal regeneration and in angiogenesis playing a role in central nervous system vascular formation. Additionally, its promiscuity makes it available to participate in a variety of cell-cell signaling regulating for instance the development of the thymic epithelium. During development of the cochlear organ of Corti, regulates pillar cell separation by forming a ternary complex with ADAM10 and CADH1 which facilitates the cleavage of CADH1 by ADAM10 and disruption of adherens junctions (By similarity). NA Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. Axon guidance;EPH-Ephrin signaling;EPH-ephrin mediated repulsion of cells;EPHA-mediated growth cone collapse PE1 2 +NX_P54792 Putative segment polarity protein dishevelled homolog DVL1P1 670 73254 6.02 0 Cytoplasm NA May play a role in the signal transduction pathway mediated by multiple Wnt genes. NA Belongs to the DSH family. NA PE5 22 +NX_P54793 Arylsulfatase F 590 65940 6.78 0 Cytosol;Secreted NA NA The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. Belongs to the sulfatase family. Glycosphingolipid metabolism;The activation of arylsulfatases PE1 X +NX_P54802 Alpha-N-acetylglucosaminidase 743 82266 6.2 0 Lysosome Charcot-Marie-Tooth disease 2V;Mucopolysaccharidosis 3B Involved in the degradation of heparan sulfate. NA Belongs to the glycosyl hydrolase 89 family. Glycosaminoglycan degradation;Metabolic pathways;Lysosome;HS-GAG degradation;MPS IIIB - Sanfilippo syndrome B PE1 17 +NX_P54803 Galactocerebrosidase 685 77063 6.17 0 Lysosome Leukodystrophy, globoid cell Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon. NA Belongs to the glycosyl hydrolase 59 family. Sphingolipid metabolism;Metabolic pathways;Lysosome;Glycosphingolipid metabolism PE1 14 +NX_P54819 Adenylate kinase 2, mitochondrial 239 26478 7.67 0 Mitochondrion intermembrane space Reticular dysgenesis Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Plays a key role in hematopoiesis. NA Belongs to the adenylate kinase family. AK2 subfamily. Purine metabolism;Metabolic pathways;Interconversion of nucleotide di- and triphosphates PE1 1 +NX_P54821 Paired mesoderm homeobox protein 1 245 27296 9.48 0 Nucleoplasm;Nucleus Agnathia-otocephaly complex Acts as a transcriptional regulator of muscle creatine kinase (MCK) and so has a role in the establishment of diverse mesodermal muscle types. The protein binds to an A/T-rich element in the muscle creatine enhancer (By similarity). NA Belongs to the paired homeobox family. NA PE1 1 +NX_P54826 Growth arrest-specific protein 1 345 35693 5.35 0 Nucleus speckle;Cell membrane NA Specific growth arrest protein involved in growth suppression. Blocks entry to S phase. Prevents cycling of normal and transformed cells. NA NA Hedgehog signaling pathway;Activation of SMO;Ligand-receptor interactions PE1 9 +NX_P54829 Tyrosine-protein phosphatase non-receptor type 5 565 63538 4.82 2 Endoplasmic reticulum;Endoplasmic reticulum membrane NA May regulate the activity of several effector molecules involved in synaptic plasticity and neuronal cell survival, including MAPKs, Src family kinases and NMDA receptors. Phosphorylation at Ser-245 by PKA deactivates PTPN5. Phosphorylation at Thr-255 and Ser-268 by MAPKs stabilizes the phosphatase, dephosphorylation of these sites results in ubiquitin-mediated degradation of the active phosphatase.;PTPN5 is phosphorylated by MAPK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);PTPN5 is phosphorylated by MAPK3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily. MAPK signaling pathway;Interleukin-37 signaling PE1 11 +NX_P54840 Glycogen [starch] synthase, liver 703 80989 6.35 0 NA Glycogen storage disease 0 Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan. Primed phosphorylation at Ser-657 (site 5) by CSNK2A1 and CSNK2A2 is required for inhibitory phosphorylation at Ser-641 (site 3a), Ser-645 (site 3b), Ser-649 (site 3c) and Ser-653 (site 4) by GSK3A an GSK3B. Dephosphorylation at Ser-641 and Ser-645 by PP1 activates the enzyme (By similarity). Phosphorylation at Ser-8 is not required for interaction with GYG1 (By similarity). Interaction with GYG1 does not regulate the phosphorylation at Ser-8 and Ser-641 (By similarity). Belongs to the glycosyltransferase 3 family. Glycan biosynthesis; glycogen biosynthesis.;Starch and sucrose metabolism;Insulin signaling pathway;Glycogen synthesis;Glycogen storage disease type 0 (liver GYS2);Glycogen storage disease type IV (GBE1) PE1 12 +NX_P54845 Neural retina-specific leucine zipper protein 237 25940 7.73 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus Retinal degeneration autosomal recessive clumped pigment type;Retinitis pigmentosa 27 Acts as a transcriptional activator which regulates the expression of several rod-specific genes, including RHO and PDE6B (PubMed:21981118). Functions also as a transcriptional coactivator, stimulating transcription mediated by the transcription factor CRX and NR2E3 (PubMed:17335001). Binds in a sequence-specific manner to the rhodopsin promoter (PubMed:17335001). Disumoylated at Lys-20. Sumoylation modulates the transcriptional activity of NRL on RHO and NR2E3 promoters, and is required for normal rod differentiation (By similarity).;Phosphorylated (PubMed:11477108, PubMed:17335001). Belongs to the bZIP family. NA PE1 14 +NX_P54849 Epithelial membrane protein 1 157 17563 8.18 4 Membrane;Nucleoplasm NA NA NA Belongs to the PMP-22/EMP/MP20 family. NA PE1 12 +NX_P54851 Epithelial membrane protein 2 167 19199 7.55 4 Cytoplasm;Cell membrane;Nucleoplasm;Golgi apparatus membrane;Cytosol;Apical cell membrane;Membrane raft;Nucleus Nephrotic syndrome 10 Functions as a key regulator of cell membrane composition by regulating proteins surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell contraction and cell adhesion. Negatively regulates caveolae formation by reducing CAV1 expression and CAV1 amount by increasing lysosomal degradation (PubMed:24814193). Facilitates surface trafficking and formation of lipid rafts bearing GPI-anchor proteins (By similarity). Regulates surface expression of MHC1 and ICAM1 proteins increasing susceptibility to T-cell mediated cytotoxicity (By similarity). Regulates the plasma membrane expression of the integrin heterodimers ITGA6-ITGB1, ITGA5-ITGB3 and ITGA5-ITGB1 resulting in modulation of cell-matrix adhesion (PubMed:16216233). Also regulates many processes through PTK2. Regulates blood vessel endothelial cell migration and angiogenesis by regulating VEGF protein expression through PTK2 activation (PubMed:23439602). Regulates cell migration and cell contraction through PTK2 and SRC activation (PubMed:21637765, PubMed:22728127). Regulates focal adhesion density, F-actin conformation and cell adhesion capacity through interaction with PTK2 (PubMed:19494199). Positively regulates cell proliferation (PubMed:24814193). Plays a role during cell death and cell blebbing (PubMed:12107182). Promotes angiogenesis and vasculogenesis through induction of VEGFA via a HIF1A-dependent pathway (PubMed:23334331). Also plays a role in embryo implantation by regulating surface trafficking of integrin heterodimer ITGA5-ITGB3 (PubMed:16487956). May play a role in glomerular filtration (By similarity). NA Belongs to the PMP-22/EMP/MP20 family. NA PE1 16 +NX_P54852 Epithelial membrane protein 3 163 18429 8.18 4 Cytoplasmic vesicle;Golgi apparatus;Membrane;Cell membrane NA Probably involved in cell proliferation and cell-cell interactions. NA Belongs to the PMP-22/EMP/MP20 family. NA PE1 19 +NX_P54855 UDP-glucuronosyltransferase 2B15 530 61036 8.98 1 Microsome membrane;Endoplasmic reticulum membrane NA UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme displays activity toward several classes of xenobiotic substrates, including simple phenolic compounds, 7-hydroxylated coumarins, flavonoids, anthraquinones, and certain drugs and their hydroxylated metabolites. It also catalyzes the glucuronidation of endogenous estrogens and androgens. NA Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Glucuronidation PE1 4 +NX_P54868 Hydroxymethylglutaryl-CoA synthase, mitochondrial 508 56635 8.4 0 Mitochondrion 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase. Succinylated. Desuccinylated by SIRT5. Succinylation, at least at Lys-83 and Lys-310, inhibits the enzymatic activity. Belongs to the thiolase-like superfamily. HMG-CoA synthase family. Metabolic intermediate biosynthesis; (R)-mevalonate biosynthesis; (R)-mevalonate from acetyl-CoA: step 2/3.;Synthesis and degradation of ketone bodies;Valine, leucine and isoleucine degradation;Butanoate metabolism;Terpenoid backbone biosynthesis;Metabolic pathways;PPAR signaling pathway;PPARA activates gene expression;Synthesis of Ketone Bodies PE1 1 +NX_P54886 Delta-1-pyrroline-5-carboxylate synthase 795 87302 6.66 0 Mitochondrion inner membrane;Mitochondrion Cutis laxa, autosomal dominant, 3;Spastic paraplegia 9A, autosomal dominant;Cutis laxa, autosomal recessive, 3A;Spastic paraplegia 9B, autosomal recessive Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. NA In the N-terminal section; belongs to the glutamate 5-kinase family.;In the C-terminal section; belongs to the gamma-glutamyl phosphate reductase family. Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-glutamate: step 1/2.;Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-glutamate: step 2/2.;Arginine and proline metabolism;Metabolic pathways;Glutamate and glutamine metabolism PE1 10 +NX_P54920 Alpha-soluble NSF attachment protein 295 33233 5.23 0 Cell membrane NA Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus (Probable). Together with GNA12 promotes CDH5 localization to plasma membrane (PubMed:15980433). NA Belongs to the SNAP family. Synaptic vesicle cycle;Golgi Associated Vesicle Biogenesis;COPII-mediated vesicle transport;Intra-Golgi traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;Retrograde transport at the Trans-Golgi-Network PE1 19 +NX_P54922 [Protein ADP-ribosylarginine] hydrolase 357 39507 6.05 0 Nucleoplasm;Nucleus membrane NA Specifically acts as a arginine mono-ADP-ribosylhydrolase by mediating the removal of mono-ADP-ribose attached to arginine residues on proteins. NA Belongs to the ADP-ribosylglycohydrolase family. NA PE1 3 +NX_P55000 Secreted Ly-6/uPAR-related protein 1 103 11186 5.21 0 Secreted Mal de Meleda Has an antitumor activity (PubMed:8742060). Was found to be a marker of late differentiation of the skin. Implicated in maintaining the physiological and structural integrity of the keratinocyte layers of the skin (PubMed:14721776, PubMed:17008884). In vitro down-regulates keratinocyte proliferation; the function may involve the proposed role as modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits alpha-7-dependent nAChR currents in an allosteric manner (PubMed:14506129, PubMed:26905431). In T cells may be involved in regulation of intracellular Ca(2+) signaling (PubMed:17286989). Seems to have an immunomodulatory function in the cornea (By similarity). The function may implicate a possible role as a scavenger receptor for PLAU thereby blocking PLAU-dependent functions of PLAUR such as in cell migration and proliferation (PubMed:25168896). NA NA NA PE1 8 +NX_P55001 Microfibrillar-associated protein 2 183 20826 4.86 0 Extracellular matrix NA Component of the elastin-associated microfibrils. O-glycosylated.;Forms intermolecular disulfide bonds either with other MAGP-1 molecules or with other components of the microfibrils. May form transglutaminase cross-links. Belongs to the MFAP family. Molecules associated with elastic fibres;Elastic fibre formation PE1 1 +NX_P55008 Allograft inflammatory factor 1 147 16703 5.97 0 Ruffle membrane;Cytosol;Phagocytic cup;Cytoskeleton NA Actin-binding protein that enhances membrane ruffling and RAC activation. Enhances the actin-bundling activity of LCP1. Binds calcium. Plays a role in RAC signaling and in phagocytosis. May play a role in macrophage activation and function. Promotes the proliferation of vascular smooth muscle cells and of T-lymphocytes. Enhances lymphocyte migration. Plays a role in vascular inflammation. Phosphorylated on serine residues. NA NA PE1 6 +NX_P55010 Eukaryotic translation initiation factor 5 431 49223 5.41 0 Cytosol;Cell membrane NA Catalyzes the hydrolysis of GTP bound to the 40S ribosomal initiation complex (40S.mRNA.Met-tRNA[F].eIF-2.GTP) with the subsequent joining of a 60S ribosomal subunit resulting in the release of eIF-2 and the guanine nucleotide. The subsequent joining of a 60S ribosomal subunit results in the formation of a functional 80S initiation complex (80S.mRNA.Met-tRNA[F]). NA Belongs to the eIF-2-beta/eIF-5 family. RNA transport;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit PE1 14 +NX_P55011 Solute carrier family 12 member 2 1212 131447 5.98 12 Membrane;Cytoplasmic vesicle;Cell membrane NA Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume. NA Belongs to the SLC12A transporter family. Salivary secretion;Pancreatic secretion;Vibrio cholerae infection;Cation-coupled Chloride cotransporters PE1 5 +NX_P55017 Solute carrier family 12 member 3 1021 113139 8.1 12 Cell membrane Gitelman syndrome Electroneutral sodium and chloride ion cotransporter. In kidney distal convoluted tubules, key mediator of sodium and chloride reabsorption (PubMed:21613606, PubMed:22009145). Receptor for the proinflammatory cytokine IL18. Contributes to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2. May act either independently of IL18R1, or in a complex with IL18R1 (By similarity). Phosphorylated in response to IL18.;Ubiquitinated; ubiquitination is essential for regulation of endocytosis. The BCR(KLHL3) complex was initially identified as a candidate ubiquitin ligase for SLC12A3 (PubMed:22406640). However, it was later shown that it is not the case. Belongs to the SLC12A transporter family. Cation-coupled Chloride cotransporters;Defective SLC12A3 causes Gitelman syndrome (GS) PE1 16 +NX_P55036 26S proteasome non-ATPase regulatory subunit 4 377 40737 4.68 0 NA NA Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMD4 acts as an ubiquitin receptor subunit through ubiquitin-interacting motifs and selects ubiquitin-conjugates for destruction. Displays a preferred selectivity for longer polyubiquitin chains. NA Belongs to the proteasome subunit S5A family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 1 +NX_P55039 Developmentally-regulated GTP-binding protein 2 364 40746 9.02 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA Catalyzes the conversion of GTP to GDP through hydrolysis of the gamma-phosphate bond in GTP. When hydroxylated at C-3 of 'Lys-21' by JMJD7, may bind to RNA and play a role in translation. Hydroxylated (with S stereochemistry) at C-3 of Lys-21 by JMJD7; this modification hinders trypsin-catalyzed proteolysis in vitro.;Polyubiquitinated. Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family. NA PE1 17 +NX_P55040 GTP-binding protein GEM 296 33949 8.77 0 Cell membrane NA Could be a regulatory protein, possibly participating in receptor-mediated signal transduction at the plasma membrane. Has guanine nucleotide-binding activity but undetectable intrinsic GTPase activity. Phosphorylated on tyrosine residues. Belongs to the small GTPase superfamily. RGK family. NA PE1 8 +NX_P55042 GTP-binding protein RAD 308 33245 9.06 0 Golgi apparatus;Nucleoplasm;Cell membrane NA May play an important role in cardiac antiarrhythmia via the strong suppression of voltage-gated L-type Ca(2+) currents. Regulates voltage-dependent L-type calcium channel subunit alpha-1C trafficking to the cell membrane (By similarity). Inhibits cardiac hypertrophy through the calmodulin-dependent kinase II (CaMKII) pathway. Inhibits phosphorylation and activation of CAMK2D. NA Belongs to the small GTPase superfamily. RGK family. NA PE1 16 +NX_P55055 Oxysterols receptor LXR-beta 460 50974 7.9 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity (PubMed:25661920). Binds preferentially to double-stranded oligonucleotide direct repeats having the consensus half-site sequence 5'-AGGTCA-3' and 4-nt spacing (DR-4). Regulates cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8; DLDLR and LRP8. Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity). Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex (PubMed:20159957). Sumoylated by SUMO2 at Lys-409 and Lys-447 during the hepatic acute phase response, leading to promote interaction with GPS2 and prevent N-Cor corepressor complex dissociation. Belongs to the nuclear hormone receptor family. NR1 subfamily. PPARA activates gene expression;Nuclear Receptor transcription pathway;VLDLR internalisation and degradation;SUMOylation of intracellular receptors PE1 19 +NX_P55056 Apolipoprotein C-IV 127 14553 9.19 0 Secreted NA May participate in lipoprotein metabolism. NA Belongs to the apolipoprotein C4 family. VLDL assembly;VLDL clearance PE1 19 +NX_P55058 Phospholipid transfer protein 493 54739 6.53 0 Secreted NA Facilitates the transfer of a spectrum of different lipid molecules, including diacylglycerol, phosphatidic acid, sphingomyelin, phosphatidylcholine, phosphatidylglycerol, cerebroside and phosphatidyl ethanolamine. Essential for the transfer of excess surface lipids from triglyceride-rich lipoproteins to HDL, thereby facilitating the formation of smaller lipoprotein remnants, contributing to the formation of LDL, and assisting in the maturation of HDL particles. PLTP also plays a key role in the uptake of cholesterol from peripheral cells and tissues that is subsequently transported to the liver for degradation and excretion. Two distinct forms of PLTP exist in plasma: an active form that can transfer PC from phospholipid vesicles to high-density lipoproteins (HDL), and an inactive form that lacks this capability. NA Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. PPAR signaling pathway;HDL remodeling PE1 20 +NX_P55060 Exportin-2 971 110417 5.51 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Export receptor for importin-alpha. Mediates importin-alpha re-export from the nucleus to the cytoplasm after import substrates (cargos) have been released into the nucleoplasm. In the nucleus binds cooperatively to importin-alpha and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the importin-alpha from the export receptor. CSE1L/XPO2 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. NA Belongs to the XPO2/CSE1 family. NA PE1 20 +NX_P55061 Bax inhibitor 1 237 26538 8.79 6 Endoplasmic reticulum membrane NA Suppressor of apoptosis (PubMed:21075086). Modulates unfolded protein response signaling (PubMed:21075086). Modulates ER calcium homeostasis by acting as a calcium-leak channel (PubMed:22128171). Negatively regulates autophagy and autophagosome formation, especially during periods of nutrient deprivation, and reduces cell survival during starvation (By similarity). NA Belongs to the BI1 family. NA PE1 12 +NX_P55064 Aquaporin-5 265 28292 8.82 6 Cytoplasmic vesicle membrane;Apical cell membrane;Cell membrane Keratoderma, palmoplantar, Bothnian type Forms a water-specific channel (PubMed:8621489, PubMed:18768791). Plays an important role in fluid secretion in salivary glands (By similarity). Required for TRPV4 activation by hypotonicity. Together with TRPV4, controls regulatory volume decrease in salivary epithelial cells (PubMed:16571723). Seems to play a redundant role in water transport in the eye, lung and in sweat glands (By similarity). NA Belongs to the MIP/aquaporin (TC 1.A.8) family. Salivary secretion;Passive transport by Aquaporins PE1 12 +NX_P55072 Transitional endoplasmic reticulum ATPase 806 89322 5.14 0 Stress granule;Endoplasmic reticulum;Nucleoplasm;Cytosol;Nucleus Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1;Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;Charcot-Marie-Tooth disease 2Y Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly after mitosis. Involved in the formation of the transitional endoplasmic reticulum (tER). The transfer of membranes from the endoplasmic reticulum to the Golgi apparatus occurs via 50-70 nm transition vesicles which derive from part-rough, part-smooth transitional elements of the endoplasmic reticulum (tER). Vesicle budding from the tER is an ATP-dependent process. The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. Regulates E3 ubiquitin-protein ligase activity of RNF19A. Component of the VCP/p97-AMFR/gp78 complex that participates in the final step of the sterol-mediated ubiquitination and endoplasmic reticulum-associated degradation (ERAD) of HMGCR. Involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908). Plays a role in the regulation of stress granules (SGs) clearance process upon arsenite-induced response (PubMed:29804830). Also involved in DNA damage response: recruited to double-strand breaks (DSBs) sites in a RNF8- and RNF168-dependent manner and promotes the recruitment of TP53BP1 at DNA damage sites (PubMed:22020440, PubMed:22120668). Recruited to stalled replication forks by SPRTN: may act by mediating extraction of DNA polymerase eta (POLH) to prevent excessive translesion DNA synthesis and limit the incidence of mutations induced by DNA damage (PubMed:23042607, PubMed:23042605). Required for cytoplasmic retrotranslocation of stressed/damaged mitochondrial outer-membrane proteins and their subsequent proteasomal degradation (PubMed:16186510, PubMed:21118995). Essential for the maturation of ubiquitin-containing autophagosomes and the clearance of ubiquitinated protein by autophagy (PubMed:20104022, PubMed:27753622). Acts as a negative regulator of type I interferon production by interacting with DDX58/RIG-I: interaction takes place when DDX58/RIG-I is ubiquitinated via 'Lys-63'-linked ubiquitin on its CARD domains, leading to recruit RNF125 and promote ubiquitination and degradation of DDX58/RIG-I (PubMed:26471729). May play a role in the ubiquitin-dependent sorting of membrane proteins to lysosomes where they undergo degradation (PubMed:21822278). May more particularly play a role in caveolins sorting in cells (PubMed:21822278, PubMed:23335559). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). Methylation at Lys-315 catalyzed by VCPKMT is increased in the presence of ASPSCR1. Lys-315 methylation may decrease ATPase activity.;ISGylated.;Phosphorylated by tyrosine kinases in response to T-cell antigen receptor activation. Phosphorylated in mitotic cells. Belongs to the AAA ATPase family. Protein processing in endoplasmic reticulum;Legionellosis;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Translesion Synthesis by POLH;HSF1 activation;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;N-glycan trimming in the ER and Calnexin/Calreticulin cycle;Ovarian tumor domain proteases;Josephin domain DUBs;Neutrophil degranulation;E3 ubiquitin ligases ubiquitinate target proteins;Protein methylation PE1 9 +NX_P55073 Thyroxine 5-deiodinase 304 33947 6.25 1 Endosome membrane;Cell membrane NA Responsible for the deiodination of T4 (3,5,3',5'-tetraiodothyronine) into RT3 (3,3',5'-triiodothyronine) and of T3 (3,5,3'-triiodothyronine) into T2 (3,3'-diiodothyronine). RT3 and T2 are inactive metabolites. May play a role in preventing premature exposure of developing fetal tissues to adult levels of thyroid hormones. Can regulate circulating fetal thyroid hormone concentrations throughout gestation. Essential role for regulation of thyroid hormone inactivation during embryological development. NA Belongs to the iodothyronine deiodinase family. Regulation of thyroid hormone activity PE1 14 +NX_P55075 Fibroblast growth factor 8 233 26525 10.44 0 Secreted Hypogonadotropic hypogonadism 6 with or without anosmia Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of the gonadotropin-releasing hormone (GnRH) neuronal system (PubMed:16384934, PubMed:16597617, PubMed:8663044). Plays a role in neurite outgrowth in hippocampal cells (PubMed:21576111). NA Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;Signaling by activated point mutants of FGFR1;Signaling by activated point mutants of FGFR3;FGFR4 ligand binding and activation;FGFR3c ligand binding and activation;FGFR1c ligand binding and activation;FGFR2c ligand binding and activation;FGFR3 mutant receptor activation;Activated point mutants of FGFR2;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade: FGFR1;Phospholipase C-mediated cascade, FGFR2;Phospholipase C-mediated cascade, FGFR3;Phospholipase C-mediated cascade, FGFR4;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;SHC-mediated cascade:FGFR3;FRS-mediated FGFR3 signaling;PI-3K cascade:FGFR3;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;PI-3K cascade:FGFR4;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;FGFR3b ligand binding and activation;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Downstream signaling of activated FGFR1;FGFRL1 modulation of FGFR1 signaling;Signaling by FGFR3 point mutants in cancer PE1 10 +NX_P55081 Microfibrillar-associated protein 1 439 51958 4.95 0 Nucleoplasm;Centrosome;Nucleus NA Involved in pre-mRNA splicing as a component of the spliceosome. NA Belongs to the MFAP1 family. Molecules associated with elastic fibres PE1 15 +NX_P55082 Microfibril-associated glycoprotein 3 362 40165 4.87 1 Golgi apparatus;Nucleoplasm;Cell membrane NA Component of the elastin-associated microfibrils. Glycosylated. NA Molecules associated with elastic fibres PE1 5 +NX_P55083 Microfibril-associated glycoprotein 4 255 28648 5.38 0 Endoplasmic reticulum;Extracellular matrix NA Could be involved in calcium-dependent cell adhesion or intercellular interactions. May contribute to the elastic fiber assembly and/or maintenance (PubMed:26601954). NA NA Molecules associated with elastic fibres PE1 17 +NX_P55084 Trifunctional enzyme subunit beta, mitochondrial 474 51294 9.45 0 Mitochondrion outer membrane;Endoplasmic reticulum;Mitochondrion inner membrane;Mitochondrion Mitochondrial trifunctional protein deficiency Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway (PubMed:8135828, PubMed:29915090, PubMed:30850536). The mitochondrial beta-oxidation pathway is the major energy-producing process in tissues and is performed through four consecutive reactions breaking down fatty acids into acetyl-CoA (PubMed:29915090). Among the enzymes involved in this pathway, the trifunctional enzyme exhibits specificity for long-chain fatty acids (PubMed:30850536). Mitochondrial trifunctional enzyme is a heterotetrameric complex composed of two proteins, the trifunctional enzyme subunit alpha/HADHA carries the 2,3-enoyl-CoA hydratase and the 3-hydroxyacyl-CoA dehydrogenase activities, while the trifunctional enzyme subunit beta/HADHB described here bears the 3-ketoacyl-CoA thiolase activity (PubMed:8135828, PubMed:29915090, PubMed:30850536). NA Belongs to the thiolase-like superfamily. Thiolase family. Lipid metabolism; fatty acid beta-oxidation.;Fatty acid elongation;Fatty acid metabolism;Valine, leucine and isoleucine degradation;Metabolic pathways;mitochondrial fatty acid beta-oxidation of unsaturated fatty acids;Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA;Beta oxidation of octanoyl-CoA to hexanoyl-CoA;Beta oxidation of hexanoyl-CoA to butanoyl-CoA;Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA;Beta oxidation of palmitoyl-CoA to myristoyl-CoA;Acyl chain remodeling of CL;Beta oxidation of myristoyl-CoA to lauroyl-CoA PE1 2 +NX_P55085 Proteinase-activated receptor 2 397 44126 9.66 7 Cell membrane NA Receptor for trypsin and trypsin-like enzymes coupled to G proteins (PubMed:28445455). Its function is mediated through the activation of several signaling pathways including phospholipase C (PLC), intracellular calcium, mitogen-activated protein kinase (MAPK), I-kappaB kinase/NF-kappaB and Rho (PubMed:28445455). Can also be transactivated by cleaved F2R/PAR1. Involved in modulation of inflammatory responses and regulation of innate and adaptive immunity, and acts as a sensor for proteolytic enzymes generated during infection. Generally is promoting inflammation. Can signal synergistically with TLR4 and probably TLR2 in inflammatory responses and modulates TLR3 signaling. Has a protective role in establishing the endothelial barrier; the activity involves coagulation factor X. Regulates endothelial cell barrier integrity during neutrophil extravasation, probably following proteolytic cleavage by PRTN3 (PubMed:23202369). Proposed to have a bronchoprotective role in airway epithelium, but also shown to compromise the airway epithelial barrier by interrupting E-cadherin adhesion (PubMed:10086357). Involved in the regulation of vascular tone; activation results in hypotension presumably mediated by vasodilation. Associates with a subset of G proteins alpha subunits such as GNAQ, GNA11, GNA14, GNA12 and GNA13, but probably not with G(o) alpha, G(i) subunit alpha-1 and G(i) subunit alpha-2. However, according to PubMed:21627585 can signal through G(i) subunit alpha. Believed to be a class B receptor which internalizes as a complex with arrestin and traffic with it to endosomal vesicles, presumably as desensitized receptor, for extended periods of time. Mediates inhibition of TNF-alpha stimulated JNK phosphorylation via coupling to GNAQ and GNA11; the function involves dissociation of RIPK1 and TRADD from TNFR1. Mediates phosphorylation of nuclear factor NF-kappa-B RELA subunit at 'Ser-536'; the function involves IKBKB and is predominantly independent of G proteins. Involved in cellular migration. Involved in cytoskeletal rearrangement and chemotaxis through beta-arrestin-promoted scaffolds; the function is independent of GNAQ and GNA11 and involves promotion of cofilin dephosphorylation and actin filament severing. Induces redistribution of COPS5 from the plasma membrane to the cytosol and activation of the JNK cascade is mediated by COPS5. Involved in the recruitment of leukocytes to the sites of inflammation and is the major PAR receptor capable of modulating eosinophil function such as proinflammatory cytokine secretion, superoxide production and degranulation. During inflammation promotes dendritic cell maturation, trafficking to the lymph nodes and subsequent T-cell activation. Involved in antimicrobial response of innate immune cells; activation enhances phagocytosis of Gram-positive and killing of Gram-negative bacteria. Acts synergistically with interferon-gamma in enhancing antiviral responses. Implicated in a number of acute and chronic inflammatory diseases such as of the joints, lungs, brain, gastrointestinal tract, periodontium, skin, and vascular systems, and in autoimmune disorders. Monoubiquitinated by CBL at the plasma membrane and in early endosomes; not required for receptor endocytosis but for translocation to late endosomes or lysosomes. Deubiquitination involves STAMBP and USP8; required for lysosomal trafficking and receptor degradation.;Multiple phosphorylated on serine and threonine residues in the cytoplasmic region upon receptor activation; required for receptor desensitization and recruitment of beta-arrestin.;N-glycosylated and sialylated.;A proteolytic cleavage generates a new N-terminus that functions as a tethered ligand (PubMed:10831593, PubMed:19864598, PubMed:9020112, PubMed:10805786, PubMed:16478888). Activating serine proteases include trypsin, mast cell tryptase, coagulation factors VII and Xa, myeloblastin/PRTN3 and membrane-type serine protease 1/ST14 (PubMed:10831593, PubMed:19864598, PubMed:9020112, PubMed:10805786, PubMed:16478888, PubMed:23202369). Subsequent cleavage by serine proteases, including neutrophil elastase and cathepsin G, leads to receptor deactivation (PubMed:12594060). At least in part, implicated proteases are also shown to activate the receptor; the glycosylation status of the receptor is thought to contribute to the difference (PubMed:12171601). In addition to conventional trypsin-like proteases activated by other proteases and glycosidases derived from bacteria, fungi and insects (PubMed:11447194, PubMed:11441110, PubMed:17404307, PubMed:18474671, PubMed:19864598). Activated by serine protease allergens such as dust mite Der p3 and Der p9 and mold Pen c13 (PubMed:11441110, PubMed:17404307). Activated by P.gingivalis arginine-specific (trypsin-like) cysteine proteinases called gingipains (PubMed:11447194). Activated by S.griseus exogenous chitinase (PubMed:18474671). Activated by A.alternata aspartate protease; the cleavage generates non-conventional processed forms (PubMed:19864598). Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;African trypanosomiasis;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 5 +NX_P55087 Aquaporin-4 323 34830 7.59 6 Endosome membrane;Cell membrane;Basolateral cell membrane;Cell junction;Cell projection;Sarcolemma NA Forms a water-specific channel (PubMed:7559426, PubMed:8601457, PubMed:19383790). Plays an important role in brain water homeostasis and in glymphatic solute transport. Required for a normal rate of water exchange across the blood brain interface. Required for normal levels of cerebrospinal fluid influx into the brain cortex and parenchyma along paravascular spaces that surround penetrating arteries, and for normal drainage of interstitial fluid along paravenous drainage pathways. Thereby, it is required for normal clearance of solutes from the brain interstitial fluid, including soluble beta-amyloid peptides derived from APP. Plays a redundant role in urinary water homeostasis and urinary concentrating ability (By similarity). Phosphorylation by PKC at Ser-180 reduces conductance by 50%. Phosphorylation by PKG at Ser-111 in response to glutamate increases conductance by 40% (By similarity).;Not palmitoylated.;Palmitoylated on its N-terminal region. Belongs to the MIP/aquaporin (TC 1.A.8) family. Vasopressin-regulated water reabsorption;Bile secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Passive transport by Aquaporins PE1 18 +NX_P55089 Urocortin 124 13458 11.7 0 Endoplasmic reticulum;Secreted NA Acts in vitro to stimulate the secretion of adrenocorticotropic hormone (ACTH) (PubMed:8612563). Binds with high affinity to CRF receptor types 1, 2-alpha, and 2-beta (PubMed:8612563). Plays a role in the establishment of normal hearing thresholds (By similarity). Reduces food intake and regulates ghrelin levels in gastric body and plasma (By similarity). NA Belongs to the sauvagine/corticotropin-releasing factor/urotensin I family. Class B/2 (Secretin family receptors);Synthesis, secretion, and deacylation of Ghrelin PE1 2 +NX_P55103 Inhibin beta C chain 352 38238 6.66 0 Secreted NA Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins. NA Belongs to the TGF-beta family. Cytokine-cytokine receptor interaction;TGF-beta signaling pathway;Glycoprotein hormones PE1 12 +NX_P55107 Growth/differentiation factor 10 478 53122 9.58 0 Cytoplasmic vesicle;Secreted NA Growth factor involved in osteogenesis and adipogenesis. Plays an inhibitory role in the process of osteoblast differentiation via SMAD2/3 pathway. Plays an inhibitory role in the process of adipogenesis. NA Belongs to the TGF-beta family. NA PE1 10 +NX_P55145 Mesencephalic astrocyte-derived neurotrophic factor 182 20700 8.94 0 Endoplasmic reticulum;Endoplasmic reticulum lumen;Secreted;Sarcoplasmic reticulum lumen NA Selectively promotes the survival of dopaminergic neurons of the ventral mid-brain (PubMed:12794311). Modulates GABAergic transmission to the dopaminergic neurons of the substantia nigra (By similarity). Enhances spontaneous, as well as evoked, GABAergic inhibitory postsynaptic currents in dopaminergic neurons (By similarity). Inhibits cell proliferation and endoplasmic reticulum (ER) stress-induced cell death (PubMed:18561914, PubMed:22637475, PubMed:29497057). Retained in the ER/sarcoplasmic reticulum (SR) through association with the endoplasmic reticulum chaperone protein HSPA5 under normal conditions (PubMed:22637475). Up-regulated and secreted by the ER/SR in response to ER stress and hypoxia (PubMed:22637475). Following secretion by the ER/SR, directly binds to 3-O-sulfogalactosylceramide, a lipid sulfatide in the outer cell membrane of target cells (PubMed:29497057). Sulfatide binding promotes its cellular uptake by endocytosis, and is required for its role in alleviating ER stress and cell toxicity under hypoxic and ER stress conditions (PubMed:29497057). May contain sialic acid residues. Belongs to the ARMET family. Platelet degranulation PE1 3 +NX_P55157 Microsomal triglyceride transfer protein large subunit 894 99351 8.61 0 Endoplasmic reticulum;Cytosol Abetalipoproteinemia Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces (PubMed:23475612, PubMed:8939939, PubMed:26224785, PubMed:25108285, PubMed:22236406). Required for the secretion of plasma lipoproteins that contain apolipoprotein B (PubMed:23475612, PubMed:8939939, PubMed:26224785). NA NA VLDL assembly;Chylomicron assembly PE1 4 +NX_P55160 Nck-associated protein 1-like 1127 128153 6.39 1 Cytoplasm;Cytosol;Cell membrane NA Essential hematopoietic-specific regulator of the actin cytoskeleton (Probable). Controls lymphocyte development, activation, proliferation and homeostasis, erythrocyte membrane stability, as well as phagocytosis and migration by neutrophils and macrophages (PubMed:16417406, PubMed:17696648). Component of the WAVE2 complex which signals downstream of RAC to stimulate F-actin polymerization. Required for stabilization and/or translation of the WAVE2 complex proteins in hematopoietic cells (By similarity). Exhibits complex cycles of activation and inhibition to generate waves of propagating the assembly with actin (PubMed:16417406). Also involved in mechanisms WAVE-independent to regulate myosin and actin polymerization during neutrophil chemotaxis (PubMed:17696648). NA Belongs to the HEM-1/HEM-2 family. Regulation of actin cytoskeleton;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;VEGFA-VEGFR2 Pathway;Neutrophil degranulation PE1 12 +NX_P55196 Afadin 1824 206804 6.06 0 Cytoplasm;Cell membrane;Cell junction;Adherens junction;Nucleoplasm NA Belongs to an adhesion system, probably together with the E-cadherin-catenin system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs) (By similarity). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton (PubMed:11024295). May play a key role in the organization of epithelial structures of the embryonic ectoderm (By similarity). Essential for the organization of adherens junctions (PubMed:30463011). AFDN is phosphorylated by MAPK3 NA Adherens junction;Tight junction;Leukocyte transendothelial migration;Adherens junctions interactions PE1 6 +NX_P55197 Protein AF-10 1068 113320 8.49 0 Nucleoplasm;Nucleus NA Probably involved in transcriptional regulation. In vitro or as fusion protein with KMT2A/MLL1 has transactivation activity. Binds to cruciform DNA. In cells, binding to unmodified histone H3 regulates DOT1L functions including histone H3 'Lys-79' dimethylation (H3K79me2) and gene activation (PubMed:26439302). NA NA NA PE1 10 +NX_P55198 Protein AF-17 1093 112048 8.93 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 17 +NX_P55199 RNA polymerase II elongation factor ELL 621 68265 9.43 0 Cajal body;Nucleus speckle;Nucleus NA Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Elongation factor component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968, PubMed:23932780). Specifically required for stimulating the elongation step of RNA polymerase II- and III-dependent snRNA gene transcription (PubMed:23932780). ELL also plays an early role before its assembly into in the SEC complex by stabilizing RNA polymerase II recruitment/initiation and entry into the pause site. Required to stabilize the pre-initiation complex and early elongation. NA Belongs to the ELL/occludin family. Formation of RNA Pol II elongation complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;Transcription-Coupled Nucleotide Excision Repair (TC-NER);RNA polymerase II transcribes snRNA genes;TP53 Regulates Transcription of DNA Repair Genes PE1 19 +NX_P55201 Peregrin 1214 137499 8.16 0 Cytoplasm;Cytosol;Nucleus;Cell membrane Intellectual developmental disorder with dysmorphic facies and ptosis Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity (PubMed:16387653, PubMed:27939640). Preferentially mediates histone H3-K23 acetylation (PubMed:27939640). Positively regulates the transcription of RUNX1 and RUNX2 (PubMed:18794358). Acetylated by KAT6A. NA HATs acetylate histones;Regulation of TP53 Activity through Acetylation PE1 3 +NX_P55209 Nucleosome assembly protein 1-like 1 391 45374 4.36 0 Cytoplasm;Melanosome;Nucleus;Cytoskeleton NA Plays a key role in the regulation of embryonic neurogenesis (By similarity). Promotes the proliferation of neural progenitors and inhibits neuronal differentiation during cortical development (By similarity). Regulates neurogenesis via the modulation of RASSF10; regulates RASSF10 expression by promoting SETD1A-mediated H3K4 methylation at the RASSF10 promoter (By similarity). Monoglycylated on glutamate residues. Cannot be polyglycylated due to the absence of functional TTLL10 in human (By similarity).;Polyglutamylated by TTLL4 on glutamate residues, resulting in polyglutamate chains on the gamma-carboxyl group. Both polyglutamylation and monoglycylation modifications can coexist on the same protein on adjacent residues, and lowering polyglycylation levels increases polyglutamylation, and reciprocally. Belongs to the nucleosome assembly protein (NAP) family. NA PE1 12 +NX_P55210 Caspase-7 303 34277 5.72 0 Cytoplasm NA Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves and activates sterol regulatory element binding proteins (SREBPs). Proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a '216-Asp-|-Gly-217' bond. Overexpression promotes programmed cell death. Cleavages by granzyme B or caspase-10 generate the two active subunits. Propeptide domains can also be cleaved efficiently by caspase-3. Active heterodimers between the small subunit of caspase-7 and the large subunit of caspase-3, and vice versa, also occur. Belongs to the peptidase C14A family. Apoptosis;Alzheimer's disease;Pertussis;Legionellosis;Caspase-mediated cleavage of cytoskeletal proteins;Apoptotic cleavage of cellular proteins;Activation of caspases through apoptosome-mediated cleavage;SMAC (DIABLO) binds to IAPs;SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes;SMAC, XIAP-regulated apoptotic response PE1 10 +NX_P55211 Caspase-9 416 46281 5.73 0 Mitochondrion NA Lacks activity is an dominant-negative inhibitor of caspase-9.;Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9 to Apaf-1 leads to activation of the protease which then cleaves and activates caspase-3. Promotes DNA damage-induced apoptosis in a ABL1/c-Abl-dependent manner. Proteolytically cleaves poly(ADP-ribose) polymerase (PARP). Cleavages at Asp-315 by granzyme B and at Asp-330 by caspase-3 generate the two active subunits. Caspase-8 and -10 can also be involved in these processing events.;Phosphorylated at Thr-125 by MAPK1/ERK2. Phosphorylation at Thr-125 is sufficient to block caspase-9 processing and subsequent caspase-3 activation. Phosphorylation on Tyr-153 by ABL1/c-Abl; occurs in the response of cells to DNA damage. Belongs to the peptidase C14A family. p53 signaling pathway;Apoptosis;VEGF signaling pathway;Alzheimer's disease;Parkinson's disease;Amyotrophic lateral sclerosis (ALS);Huntington's disease;Legionellosis;Toxoplasmosis;Tuberculosis;Influenza A;Pathways in cancer;Colorectal cancer;Pancreatic cancer;Endometrial cancer;Prostate cancer;Small cell lung cancer;Non-small cell lung cancer;Viral myocarditis;NOD1/2 Signaling Pathway;Caspase activation via Dependence Receptors in the absence of ligand;Constitutive Signaling by AKT1 E17K in Cancer;AKT phosphorylates targets in the cytosol;Formation of apoptosome;Activation of caspases through apoptosome-mediated cleavage;SMAC (DIABLO) binds to IAPs;SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes;Regulation of the apoptosome activity PE1 1 +NX_P55212 Caspase-6 293 33310 6.46 0 Nucleoplasm;Cytosol;Cytoplasm NA Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves poly(ADP-ribose) polymerase in vitro, as well as lamins. Overexpression promotes programmed cell death. Cleavages by caspase-3, caspase-8 or -10 generate the two active subunits. Belongs to the peptidase C14A family. Apoptosis;Caspase-mediated cleavage of cytoskeletal proteins;Apoptotic cleavage of cellular proteins;Breakdown of the nuclear lamina;TP53 Regulates Transcription of Caspase Activators and Caspases PE1 4 +NX_P55259 Pancreatic secretory granule membrane major glycoprotein GP2 537 59480 5.08 0 Secreted;Cell membrane NA NA NA NA Post-translational modification: synthesis of GPI-anchored proteins PE1 16 +NX_P55263 Adenosine kinase 362 40545 6.24 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus Hypermethioninemia due to adenosine kinase deficiency ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides. NA Belongs to the carbohydrate kinase PfkB family. Purine metabolism; AMP biosynthesis via salvage pathway; AMP from adenosine: step 1/1.;Purine metabolism;Metabolic pathways;Purine salvage PE1 10 +NX_P55265 Double-stranded RNA-specific adenosine deaminase 1226 136066 8.86 0 Nucleoplasm;Nucleus;Cytoplasm;Nucleolus Dyschromatosis symmetrica hereditaria;Aicardi-Goutieres syndrome 6 Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing (PubMed:7972084, PubMed:7565688, PubMed:12618436). This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structure-dependent activities such as microRNA production or targeting or protein-RNA interactions. Can edit both viral and cellular RNAs and can edit RNAs at multiple sites (hyper-editing) or at specific sites (site-specific editing). Its cellular RNA substrates include: bladder cancer-associated protein (BLCAP), neurotransmitter receptors for glutamate (GRIA2) and serotonin (HTR2C) and GABA receptor (GABRA3). Site-specific RNA editing of transcripts encoding these proteins results in amino acid substitutions which consequently alters their functional activities. Exhibits low-level editing at the GRIA2 Q/R site, but edits efficiently at the R/G site and HOTSPOT1. Its viral RNA substrates include: hepatitis C virus (HCV), vesicular stomatitis virus (VSV), measles virus (MV), hepatitis delta virus (HDV), and human immunodeficiency virus type 1 (HIV-1). Exhibits either a proviral (HDV, MV, VSV and HIV-1) or an antiviral effect (HCV) and this can be editing-dependent (HDV and HCV), editing-independent (VSV and MV) or both (HIV-1). Impairs HCV replication via RNA editing at multiple sites. Enhances the replication of MV, VSV and HIV-1 through an editing-independent mechanism via suppression of EIF2AK2/PKR activation and function. Stimulates both the release and infectivity of HIV-1 viral particles by an editing-dependent mechanism where it associates with viral RNAs and edits adenosines in the 5'UTR and the Rev and Tat coding sequence. Can enhance viral replication of HDV via A-to-I editing at a site designated as amber/W, thereby changing an UAG amber stop codon to an UIG tryptophan (W) codon that permits synthesis of the large delta antigen (L-HDAg) which has a key role in the assembly of viral particles. However, high levels of ADAR1 inhibit HDV replication. Sumoylation reduces RNA-editing activity. NA Cytosolic DNA-sensing pathway;Measles;Influenza A;Interferon alpha/beta signaling;C6 deamination of adenosine;Formation of editosomes by ADAR proteins PE1 1 +NX_P55268 Laminin subunit beta-2 1798 195981 6.07 0 Cytoplasmic vesicle;Basement membrane;Cytosol Nephrotic syndrome 5 with or without ocular abnormalities;Pierson syndrome Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. NA NA Focal adhesion;ECM-receptor interaction;Toxoplasmosis;Amoebiasis;Pathways in cancer;Small cell lung cancer;ECM proteoglycans;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Non-integrin membrane-ECM interactions;Laminin interactions;MET activates PTK2 signaling;Post-translational protein phosphorylation PE1 3 +NX_P55273 Cyclin-dependent kinase 4 inhibitor D 166 17700 5.69 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Interacts strongly with CDK4 and CDK6 and inhibits them. NA Belongs to the CDKN2 cyclin-dependent kinase inhibitor family. Cell cycle;Oxidative Stress Induced Senescence;Senescence-Associated Secretory Phenotype (SASP);Oncogene Induced Senescence;Cyclin D associated events in G1 PE1 19 +NX_P55283 Cadherin-4 916 100281 4.65 1 Cell membrane NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. May play an important role in retinal development. NA NA Cell adhesion molecules (CAMs);Adherens junctions interactions;Myogenesis PE1 20 +NX_P55285 Cadherin-6 790 88309 4.77 1 Cell junction;Cell membrane NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. NA NA Adherens junctions interactions PE1 5 +NX_P55286 Cadherin-8 799 88253 4.55 1 Cell membrane NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. NA NA Adherens junctions interactions PE1 16 +NX_P55287 Cadherin-11 796 87965 4.75 1 Cell membrane Elsahy-Waters syndrome Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. NA NA Adherens junctions interactions PE1 16 +NX_P55289 Cadherin-12 794 88332 4.64 1 Cytoplasmic vesicle;Cell membrane NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. NA NA Adherens junctions interactions PE1 5 +NX_P55290 Cadherin-13 713 78287 4.8 0 Cell membrane NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. May act as a negative regulator of neural cell growth. NA NA Adherens junctions interactions PE1 16 +NX_P55291 Cadherin-15 814 88916 4.81 1 Golgi apparatus;Cell membrane Mental retardation, autosomal dominant 3 Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. M-cadherin is part of the myogenic program and may provide a trigger for terminal muscle differentiation. NA NA Cell adhesion molecules (CAMs);Adherens junctions interactions;Myogenesis PE1 16 +NX_P55316 Forkhead box protein G1 489 52352 8.99 0 Nucleus Rett syndrome congenital variant Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon. NA NA Regulation of MECP2 expression and activity;FOXO-mediated transcription of cell cycle genes PE1 14 +NX_P55317 Hepatocyte nuclear factor 3-alpha 472 49148 8.93 0 Nucleoplasm;Nucleus;Nucleolus NA Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3' (By similarity). Proposed to play a role in translating the epigenetic signatures into cell type-specific enhancer-driven transcriptional programs. Its differential recruitment to chromatin is dependent on distribution of histone H3 methylated at 'Lys-5' (H3K4me2) in estrogen-regulated genes. Involved in the development of multiple endoderm-derived organ systems such as liver, pancreas, lung and prostate; FOXA1 and FOXA2 seem to have at least in part redundant roles (By similarity). Modulates the transcriptional activity of nuclear hormone receptors. Is involved in ESR1-mediated transcription; required for ESR1 binding to the NKX2-1 promoter in breast cancer cells; binds to the RPRM promoter and is required for the estrogen-induced repression of RPRM. Involved in regulation of apoptosis by inhibiting the expression of BCL2. Involved in cell cycle regulation by activating expression of CDKN1B, alone or in conjunction with BRCA1. Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis. NA NA Estrogen-dependent gene expression PE1 14 +NX_P55318 Hepatocyte nuclear factor 3-gamma 350 37140 7.01 0 Nucleoplasm;Nucleus NA Transcription factor that is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites (By similarity). Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis; binds to and activates transcription from the G6PC promoter. Binds to the CYP3A4 promoter and activates its transcription in cooperation with CEBPA. Binds to the CYP3A7 promoter together with members of the CTF/NF-I family. Involved in regulation of neuronal-specific transcription. May be involved in regulation of spermatogenesis. NA NA Maturity onset diabetes of the young;Regulation of gene expression in beta cells PE1 19 +NX_P55327 Tumor protein D52 224 24327 4.79 0 Golgi apparatus;Cytosol NA NA NA Belongs to the TPD52 family. Golgi Associated Vesicle Biogenesis PE1 8 +NX_P55344 Lens fiber membrane intrinsic protein 173 19674 9.64 4 Membrane Cataract, multiple types 19 Present in the thicker 16-17 nm junctions of mammalian lens fiber cells, where it may contribute to cell junctional organization. Acts as a receptor for calmodulin. May play an important role in both lens development and cataractogenesis. NA Belongs to the PMP-22/EMP/MP20 family. NA PE1 19 +NX_P55345 Protein arginine N-methyltransferase 2 433 49042 5.03 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Arginine methyltransferase that methylates the guanidino nitrogens of arginyl residues in proteins such as STAT3, FBL, histone H4. Acts as a coactivator (with NCOA2) of the androgen receptor (AR)-mediated transactivation. Acts as a coactivator (with estrogen) of estrogen receptor (ER)-mediated transactivation. Enhances PGR, PPARG, RARA-mediated transactivation. May inhibit NF-kappa-B transcription and promote apoptosis. Represses E2F1 transcriptional activity (in a RB1-dependent manner). May be involved in growth regulation. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family. NA PE1 21 +NX_P55347 Homeobox protein PKNOX1 436 47607 4.79 0 Nucleoplasm;Nucleus NA Activates transcription in the presence of PBX1A and HOXA1. NA Belongs to the TALE/MEIS homeobox family. Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 21 +NX_P55735 Protein SEC13 homolog 322 35541 5.22 0 Cytoplasm;Endoplasmic reticulum membrane;Nuclear pore complex;Lysosome membrane;Endoplasmic reticulum;COPII-coated vesicle membrane;Nucleoplasm;Cytoplasmic vesicle NA Functions as a component of the nuclear pore complex (NPC) and the COPII coat. At the endoplasmic reticulum, SEC13 is involved in the biogenesis of COPII-coated vesicles (PubMed:8972206). Required for the exit of adipsin (CFD/ADN), an adipocyte-secreted protein from the endoplasmic reticulum (By similarity).;As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:25457612, PubMed:27487210). NA Belongs to the WD repeat SEC13 family. RNA transport;Protein processing in endoplasmic reticulum;Separation of Sister Chromatids;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;MHC class II antigen presentation;snRNP Assembly;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;COPII-mediated vesicle transport;NEP/NS2 Interacts with the Cellular Export Machinery;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 3 +NX_P55769 NHP2-like protein 1 128 14174 8.72 0 Nucleus;Nucleolus NA Involved in pre-mRNA splicing as component of the spliceosome (PubMed:28781166). Binds to the 5'-stem-loop of U4 snRNA and thereby contributes to spliceosome assembly (PubMed:10545122, PubMed:17412961). The protein undergoes a conformational change upon RNA-binding (PubMed:17412961). NA Belongs to the eukaryotic ribosomal protein eL8 family. Ribosome biogenesis in eukaryotes;Spliceosome;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 22 +NX_P55771 Paired box protein Pax-9 341 36310 9.39 0 Nucleoplasm;Mitochondrion;Nucleus Tooth agenesis, selective, 3 Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs. NA NA NA PE1 14 +NX_P55773 C-C motif chemokine 23 120 13411 9.21 0 Secreted NA Shows chemotactic activity for monocytes, resting T-lymphocytes, and neutrophils, but not for activated lymphocytes. Inhibits proliferation of myeloid progenitor cells in colony formation assays. This protein can bind heparin. Binds CCR1. CCL23(19-99), CCL23(22-99), CCL23(27-99), CCL23(30-99) are more potent chemoattractants than the small-inducible cytokine A23. NA Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;G alpha (q) signalling events;Formyl peptide receptors bind formyl peptides and many other ligands PE1 17 +NX_P55774 C-C motif chemokine 18 89 9849 9.06 0 Secreted NA Chemotactic factor that attracts lymphocytes but not monocytes or granulocytes. May be involved in B-cell migration into B-cell follicles in lymph nodes. Attracts naive T-lymphocytes toward dendritic cells and activated macrophages in lymph nodes, has chemotactic activity for naive T-cells, CD4+ and CD8+ T-cells and thus may play a role in both humoral and cell-mediated immunity responses. The Cys-30/Cys-54 disulfide bond is required for activity. Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway PE1 17 +NX_P55786 Puromycin-sensitive aminopeptidase 919 103276 5.49 0 Cytoplasm;Cytosol;Nucleus NA Aminopeptidase with broad substrate specificity for several peptides. Involved in proteolytic events essential for cell growth and viability. May act as regulator of neuropeptide activity. Plays a role in the antigen-processing pathway for MHC class I molecules. Involved in the N-terminal trimming of cytotoxic T-cell epitope precursors. Digests the poly-Q peptides found in many cellular proteins. Digests tau from normal brain more efficiently than tau from Alzheimer disease brain. NA Belongs to the peptidase M1 family. Antigen processing: Ubiquitination & Proteasome degradation PE1 17 +NX_P55789 FAD-linked sulfhydryl oxidase ALR 205 23449 7.57 0 Cytoplasm;Mitochondrion;Mitochondrion intermembrane space;Secreted;Cytosol Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay May act as an autocrine hepatotrophic growth factor promoting liver regeneration.;FAD-dependent sulfhydryl oxidase that regenerates the redox-active disulfide bonds in CHCHD4/MIA40, a chaperone essential for disulfide bond formation and protein folding in the mitochondrial intermembrane space. The reduced form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with GFER/ERV1, resulting in regeneration of the essential disulfide bonds in CHCHD4/MIA40, while GFER/ERV1 becomes re-oxidized by donating electrons to cytochrome c or molecular oxygen. NA NA Mitochondrial protein import PE1 16 +NX_P55795 Heterogeneous nuclear ribonucleoprotein H2 449 49264 5.89 0 Nucleoplasm Mental retardation, X-linked, syndromic, Bain type This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Binds poly(RG). NA NA mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA PE1 X +NX_P55808 Glycoprotein Xg 180 19723 6.95 1 Cell membrane NA NA O-glycosylated. Belongs to the CD99 family. NA PE1 X +NX_P55809 Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial 520 56158 7.13 0 Mitochondrion matrix;Mitochondrion Succinyl-CoA:3-oxoacid CoA transferase deficiency Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate. NA Belongs to the 3-oxoacid CoA-transferase family. Ketone metabolism; succinyl-CoA degradation; acetoacetyl-CoA from succinyl-CoA: step 1/1.;Synthesis and degradation of ketone bodies;Valine, leucine and isoleucine degradation;Butanoate metabolism;Utilization of Ketone Bodies PE1 5 +NX_P55822 SH3 domain-binding glutamic acid-rich protein 239 26086 4.09 0 Cytosol;Cell membrane NA NA NA Belongs to the SH3BGR family. NA PE1 21 +NX_P55851 Mitochondrial uncoupling protein 2 309 33229 9.74 6 Mitochondrion inner membrane;Mitochondrion NA UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation from ATP synthesis. As a result, energy is dissipated in the form of heat. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. The fatty acid cycling model;The proton buffering model PE1 11 +NX_P55854 Small ubiquitin-related modifier 3 103 11637 5.32 0 Cytoplasm;PML body;Nucleus NA Ubiquitin-like protein which can be covalently attached to target lysines either as a monomer or as a lysine-linked polymer. Does not seem to be involved in protein degradation and may function as an antagonist of ubiquitin in the degradation process. Plays a role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Covalent attachment to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by an E3 ligase such as PIAS1-4, RANBP2 or CBX4 (PubMed:11451954, PubMed:18538659, PubMed:21965678). Plays a role in the regulation of sumoylation status of SETX (PubMed:24105744). Polymeric chains can be formed through Lys-11 cross-linking.;Cleavage of precursor form by SENP1, SENP2 or SENP5 is necessary for function. Belongs to the ubiquitin family. SUMO subfamily. RNA transport;SUMOylation of DNA damage response and repair proteins;SUMO is conjugated to E1 (UBA2:SAE1);SUMO is transferred from E1 to E2 (UBE2I, UBC9);SUMO is proteolytically processed;Formation of Incision Complex in GG-NER;SUMOylation of DNA replication proteins;SUMOylation of transcription factors;SUMOylation of chromatin organization proteins;SUMOylation of intracellular receptors;SUMOylation of transcription cofactors;SUMOylation of immune response proteins PE1 21 +NX_P55884 Eukaryotic translation initiation factor 3 subunit B 814 92482 4.89 0 Nucleoplasm;Cytoplasm;Cytosol NA RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:9388245, PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:9388245, PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773).;(Microbial infection) In case of FCV infection, plays a role in the ribosomal termination-reinitiation event leading to the translation of VP2 (PubMed:18056426). Phosphorylated. Phosphorylation is enhanced upon serum stimulation. Belongs to the eIF-3 subunit B family. RNA transport;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit PE1 7 +NX_P55895 V(D)J recombination-activating protein 2 527 59241 5.56 0 Nucleoplasm;Nucleus Omenn syndrome;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive;Combined cellular and humoral immune defects with granulomas Core component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. DNA cleavage by the RAG complex occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, generating a 3'-hydroxyl group that can attack the phosphodiester bond on the opposite strand in a direct transesterification reaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2 blunt, 5'-phosphorylated ends. The chromatin structure plays an essential role in the V(D)J recombination reactions and the presence of histone H3 trimethylated at 'Lys-4' (H3K4me3) stimulates both the nicking and haipinning steps. The RAG complex also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin allele induces ATM-dependent repositioning of the other allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. In the RAG complex, RAG2 is not the catalytic component but is required for all known catalytic activities mediated by RAG1. It probably acts as a sensor of chromatin state that recruits the RAG complex to H3K4me3 (By similarity). NA Belongs to the RAG2 family. Primary immunodeficiency;MAPK6/MAPK4 signaling;Interleukin-7 signaling PE1 11 +NX_P55899 IgG receptor FcRn large subunit p51 365 39743 6.09 1 Endosome membrane;Cell membrane NA Cell surface receptor that transfers passive humoral immunity from the mother to the newborn. Binds to the Fc region of monomeric immunoglobulin gamma and mediates its selective uptake from milk (PubMed:7964511, PubMed:10933786). IgG in the milk is bound at the apical surface of the intestinal epithelium. The resultant FcRn-IgG complexes are transcytosed across the intestinal epithelium and IgG is released from FcRn into blood or tissue fluids. Throughout life, contributes to effective humoral immunity by recycling IgG and extending its half-life in the circulation. Mechanistically, monomeric IgG binding to FcRn in acidic endosomes of endothelial and hematopoietic cells recycles IgG to the cell surface where it is released into the circulation (PubMed:10998088). In addition of IgG, regulates homeostasis of the other most abundant circulating protein albumin/ALB (PubMed:24469444, PubMed:28330995).;(Microbial infection) Acts as an uncoating receptor for a panel of echoviruses including Echovirus 5, 6, 7, 9, 11, 13, 25 and 29. NA Belongs to the immunoglobulin superfamily. NA PE1 19 +NX_P55916 Mitochondrial uncoupling protein 3 312 34216 9.31 6 Nucleoplasm;Cytosol;Mitochondrion inner membrane;Cell membrane Obesity UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation. As a result, energy is dissipated in the form of heat. May play a role in the modulation of tissue respiratory control. Participates in thermogenesis and energy balance. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. The fatty acid cycling model;The proton buffering model PE1 11 +NX_P55957 BH3-interacting domain death agonist 195 21995 5.27 0 Mitochondrion membrane;Cytoplasm;Cytosol;Mitochondrion outer membrane NA Induce ICE-like proteases and apoptosis.;The major proteolytic product p15 BID allows the release of cytochrome c (By similarity).;Does not induce apoptosis. Counters the protective effect of Bcl-2. TNF-alpha induces a caspase-mediated cleavage of p22 BID into a major p15 and minor p13 and p11 products.;P15 BID is ubiquitinated by ITCH; ubiquitination results in proteasome-dependent degradation.;BID is phosphorylated by MAPK3 NA p53 signaling pathway;Apoptosis;Natural killer cell mediated cytotoxicity;Alzheimer's disease;Amyotrophic lateral sclerosis (ALS);Tuberculosis;Pathways in cancer;Viral myocarditis;Activation, myristolyation of BID and translocation to mitochondria;Activation of BAD and translocation to mitochondria;BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members;Activation, translocation and oligomerization of BAX;Activation and oligomerization of BAK protein;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release PE1 22 +NX_P56134 ATP synthase subunit f, mitochondrial 94 10918 9.7 1 Cytoplasm;Mitochondrion inner membrane;Mitochondrion NA Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane. NA Belongs to the ATPase F chain family. Oxidative phosphorylation;Metabolic pathways;Formation of ATP by chemiosmotic coupling;Cristae formation PE1 7 +NX_P56159 GDNF family receptor alpha-1 465 51456 8.3 0 trans-Golgi network;Golgi apparatus;Cell membrane;Nucleoplasm;Endosome;Multivesicular body NA Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor (By similarity). NA Belongs to the GDNFR family. RAF/MAP kinase cascade;NCAM1 interactions;RET signaling PE1 10 +NX_P56177 Homeobox protein DLX-1 255 27320 9.71 0 Nucleus NA Plays a role as a transcriptional activator or repressor (PubMed:14671321). Inhibits several cytokine signaling pathways, such as TGFB1, activin-A/INHBA and BMP4 by interfering with the transcriptional stimulatory activity of transcription factors, such as MSX2, FAST2, SMAD2 and SMAD3 during hematopoietic cell differentiation (PubMed:14671321). Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina (By similarity). Likely to play a regulatory role in the development of the ventral forebrain (By similarity). May play a role in craniofacial patterning and morphogenesis and may be involved in the early development of diencephalic subdivisions (By similarity). NA Belongs to the distal-less homeobox family. NA PE1 2 +NX_P56178 Homeobox protein DLX-5 289 31540 9.31 0 Nucleoplasm;Nucleus Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the homeodomain-response element of the ALPL and SP7 promoter. Binds to the MYC promoter. Requires the 5'-TAATTA-3' consensus sequence for DNA-binding. Phosphorylated. Phosphorylation of Ser-34 and Ser-217 by MAPK14 enhances its transcriptional activity. Phosphorylation by CaMK2 increases its protein stability (By similarity). Belongs to the distal-less homeobox family. Regulation of RUNX2 expression and activity PE1 7 +NX_P56179 Homeobox protein DLX-6 175 19708 9.95 0 Nucleus NA NA NA Belongs to the distal-less homeobox family. Regulation of RUNX2 expression and activity PE1 7 +NX_P56180 Putative tyrosine-protein phosphatase TPTE 551 64322 8.81 3 Membrane NA Could be involved in signal transduction. NA NA Synthesis of PIPs at the Golgi membrane PE1 21 +NX_P56181 NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial 108 11941 9.72 0 Mitochondrion inner membrane;Mitochondrion NA Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. May be the terminally assembled subunit of Complex I. NA Belongs to the complex I NDUFV3 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 21 +NX_P56182 Ribosomal RNA processing protein 1 homolog A 461 52839 9.39 0 Nucleolus NA Plays a critical role in the generation of 28S rRNA. Methylated at Gln-427 by N6AMT1. Belongs to the RRP1 family. Major pathway of rRNA processing in the nucleolus and cytosol PE1 21 +NX_P56192 Methionine--tRNA ligase, cytoplasmic 900 101116 5.82 0 Cytosol;Nucleolus Charcot-Marie-Tooth disease 2U;Interstitial lung and liver disease Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA (PubMed:11714285). Plays a role in the synthesis of ribosomal RNA in the nucleolus (PubMed:10791971). NA Belongs to the class-I aminoacyl-tRNA synthetase family. Selenocompound metabolism;Aminoacyl-tRNA biosynthesis;Cytosolic tRNA aminoacylation;Selenoamino acid metabolism PE1 12 +NX_P56199 Integrin alpha-1 1179 130848 5.91 1 Membrane NA Integrin alpha-1/beta-1 is a receptor for laminin and collagen. It recognizes the proline-hydroxylated sequence G-F-P-G-E-R in collagen. Involved in anchorage-dependent, negative regulation of EGF-stimulated cell growth. NA Belongs to the integrin alpha chain family. Focal adhesion;ECM-receptor interaction;Hematopoietic cell lineage;Regulation of actin cytoskeleton;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Integrin cell surface interactions;Other semaphorin interactions;CHL1 interactions;Platelet Adhesion to exposed collagen;Smooth Muscle Contraction;Laminin interactions PE1 5 +NX_P56202 Cathepsin W 376 42120 7.14 0 Endoplasmic reticulum NA May have a specific function in the mechanism or regulation of T-cell cytolytic activity.;(Microbial infection) Plays a role during influenza virus infection in lungs cells ex vivo. Acts at the level of virus entering host cytoplasm from late endosome. NA Belongs to the peptidase C1 family. Lysosome;Platelet degranulation PE1 11 +NX_P56211 cAMP-regulated phosphoprotein 19 112 12323 9.07 0 Cytoplasm NA Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. When phosphorylated at Ser-62 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M phase. May indirectly enhance GAP-43 expression. Phosphorylation at Ser-62 by GWL during mitosis is essential for interaction with PPP2R2D (PR55-delta) and subsequent inactivation of PP2A (By similarity). Phosphorylated by PKA. Belongs to the endosulfine family. MASTL Facilitates Mitotic Progression PE1 15 +NX_P56270 Myc-associated zinc finger protein 477 48608 9.21 0 Nucleoplasm;Nucleus NA May function as a transcription factor with dual roles in transcription initiation and termination. Binds to two sites, ME1a1 and ME1a2, within the MYC promoter having greater affinity for the former. Also binds to multiple G/C-rich sites within the promoter of the Sp1 family of transcription factors. Regulates inflammation-induced expression of serum amyloid A proteins. NA NA NA PE1 16 +NX_P56277 Cx9C motif-containing protein 4 68 7747 8.5 0 Cytoplasm;Mitochondrion;Nucleus NA NA NA Belongs to the CMC4 family. Mitochondrial protein import PE1 X +NX_P56278 Protein p13 MTCP-1 107 12600 5.07 0 Nucleoplasm;Cell membrane NA Enhances the phosphorylation and activation of AKT1 and AKT2. NA Belongs to the TCL1 family. NA PE1 X +NX_P56279 T-cell leukemia/lymphoma protein 1A 114 13460 4.98 0 Cytoplasm;Microsome;Nucleoplasm;Endoplasmic reticulum;Cytosol;Nucleus NA Enhances the phosphorylation and activation of AKT1, AKT2 and AKT3. Promotes nuclear translocation of AKT1. Enhances cell proliferation, stabilizes mitochondrial membrane potential and promotes cell survival. NA Belongs to the TCL1 family. NA PE1 14 +NX_P56282 DNA polymerase epsilon subunit 2 527 59537 5.95 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Accessory component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in DNA repair and in chromosomal DNA replication (By similarity). NA Belongs to the DNA polymerase epsilon subunit B family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;DNA replication;Base excision repair;Nucleotide excision repair;HTLV-I infection;Activation of the pre-replicative complex;Termination of translesion DNA synthesis;PCNA-Dependent Long Patch Base Excision Repair;Recognition of DNA damage by PCNA-containing replication complex;Telomere C-strand synthesis initiation;DNA replication initiation;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Homologous Recombination (HRR);Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER PE1 14 +NX_P56373 P2X purinoceptor 3 397 44289 7.88 2 Cell membrane NA Receptor for ATP that acts as a ligand-gated cation channel (PubMed:27626375). Plays a role in sensory perception. Required for normal perception of pain. Required for normal taste perception (By similarity). NA Belongs to the P2X receptor family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Elevation of cytosolic Ca2+ levels;Platelet homeostasis PE1 11 +NX_P56377 AP-1 complex subunit sigma-2 157 18615 5.39 0 Golgi apparatus;Cytoplasmic vesicle membrane;Clathrin-coated pit Pettigrew syndrome Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. NA Belongs to the adaptor complexes small subunit family. Lysosome;MHC class II antigen presentation;Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis;Nef mediated downregulation of MHC class I complex cell surface expression PE1 X +NX_P56378 ATP synthase subunit ATP5MPL, mitochondrial 58 6662 10.08 1 Mitochondrion membrane;Cytoplasm;Mitochondrion;Nucleolus NA Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). Minor subunit required to maintain the ATP synthase population in the mitochondria (PubMed:24330338). NA Belongs to the small mitochondrial proteolipid family. NA PE1 14 +NX_P56381 ATP synthase subunit epsilon, mitochondrial 51 5780 9.93 0 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex V deficiency, nuclear type 3 Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (By similarity). NA Belongs to the eukaryotic ATPase epsilon family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Formation of ATP by chemiosmotic coupling;Cristae formation PE1 20 +NX_P56385 ATP synthase subunit e, mitochondrial 69 7933 9.34 0 Mitochondrion inner membrane;Mitochondrion NA Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane. NA Belongs to the ATPase e subunit family. Oxidative phosphorylation;Metabolic pathways;Formation of ATP by chemiosmotic coupling;Cristae formation PE1 4 +NX_P56470 Galectin-4 323 35941 9.21 0 Cell membrane NA Galectin that binds lactose and a related range of sugars. May be involved in the assembly of adherens junctions. NA NA NA PE1 19 +NX_P56524 Histone deacetylase 4 1084 119040 6.49 0 Cytoplasm;Nucleus speckle;Nucleoplasm;Cytosol;Nucleus Brachydactyly-mental retardation syndrome Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation via its interaction with the myocyte enhancer factors such as MEF2A, MEF2C and MEF2D. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. Deacetylates HSPA1A and HSPA1B at 'Lys-77' leading to their preferential binding to co-chaperone STUB1 (PubMed:27708256). Phosphorylated by CaMK4 at Ser-246, Ser-467 and Ser-632. Phosphorylation at other residues by CaMK2D is required for the interaction with 14-3-3. Phosphorylation at Ser-350, within the PxLPxI/L motif, impairs the binding of ANKRA2 but generates a high-affinity docking site for 14-3-3.;Sumoylation on Lys-559 is promoted by the E3 SUMO-protein ligase RANBP2, and prevented by phosphorylation by CaMK4. Belongs to the histone deacetylase family. HD type 2 subfamily. Notch-HLH transcription pathway;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;SUMOylation of chromatin organization proteins;RUNX3 regulates p14-ARF;RUNX2 regulates chondrocyte maturation;SUMOylation of intracellular receptors PE1 2 +NX_P56537 Eukaryotic translation initiation factor 6 245 26599 4.56 0 Nucleoplasm;Cytoplasm;Nucleolus NA Binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit to form the 80S initiation complex in the cytoplasm. Behaves as a stimulatory translation initiation factor downstream insulin/growth factors. Is also involved in ribosome biogenesis. Associates with pre-60S subunits in the nucleus and is involved in its nuclear export. Cytoplasmic release of TIF6 from 60S subunits and nuclear relocalization is promoted by a RACK1 (RACK1)-dependent protein kinase C activity (PubMed:10085284, PubMed:14654845, PubMed:21536732). In tissues responsive to insulin, controls fatty acid synthesis and glycolysis by exerting translational control of adipogenic transcription factors such as CEBPB, CEBPD and ATF4 that have G/C rich or uORF in their 5'UTR. Required for ROS-dependent megakaryocyte maturation and platelets formation, controls the expression of mitochondrial respiratory chain genes involved in reactive oxygen species (ROS) synthesis (By similarity). Involved in miRNA-mediated gene silencing by the RNA-induced silencing complex (RISC). Required for both miRNA-mediated translational repression and miRNA-mediated cleavage of complementary mRNAs by RISC (PubMed:17507929). Modulates cell cycle progression and global translation of pre-B cells, its activation seems to be rate-limiting in tumorigenesis and tumor growth (By similarity). Phosphorylation at Ser-174 and Ser-175 by CSNK1D/CK1 promotes nuclear export. Belongs to the eIF-6 family. Ribosome biogenesis in eukaryotes PE1 20 +NX_P56539 Caveolin-3 151 17259 5.5 0 Cell membrane;Caveola;Golgi apparatus membrane;Cytoplasmic vesicle;Sarcolemma Long QT syndrome 9;Cardiomyopathy, familial hypertrophic;Myopathy, distal, Tateyama type;HyperCKmia;Sudden infant death syndrome;Rippling muscle disease 2 May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). Mediates the recruitment of CAVIN2 and CAVIN3 proteins to the caveolae (PubMed:19262564). Sumoylation with SUMO3 by PIAS4 may reduce agonist-induced internalization and desensitization of adrenergic receptor ABRD2. Belongs to the caveolin family. Endocytosis;Focal adhesion;Bacterial invasion of epithelial cells;Smooth Muscle Contraction PE1 3 +NX_P56545 C-terminal-binding protein 2 445 48945 6.47 0 Cytosol;Synapse;Nucleus NA Corepressor targeting diverse transcription regulators. Functions in brown adipose tissue (BAT) differentiation (By similarity).;Probably acts as a scaffold for specialized synapses. NA Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. Wnt signaling pathway;Notch signaling pathway;Pathways in cancer;Chronic myeloid leukemia;Repression of WNT target genes;TCF7L2 mutants don't bind CTBP PE1 10 +NX_P56555 Down syndrome critical region protein 4 118 12955 7.76 0 NA NA NA NA NA NA PE2 21 +NX_P56556 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6 128 15137 9.98 0 Mitochondrion inner membrane Mitochondrial complex I deficiency, nuclear type 33 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Required for proper complex I assembly (PubMed:30245030). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I LYR family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 22 +NX_P56557 Transmembrane protein 50B 158 17936 5.23 4 Golgi apparatus;Endoplasmic reticulum membrane;Nucleolus;Golgi apparatus membrane NA NA NA Belongs to the UPF0220 family. NA PE1 21 +NX_P56559 ADP-ribosylation factor-like protein 4C 192 21487 9.17 0 Cytoplasm;Cytosol;Filopodium;Cell membrane NA Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. May be involved in transport between a perinuclear compartment and the plasma membrane, apparently linked to the ABCA1-mediated cholesterol secretion pathway. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in the GDP-bound form. Regulates the microtubule-dependent intracellular vesicular transport from early endosome to recycling endosome process. NA Belongs to the small GTPase superfamily. Arf family. NA PE1 2 +NX_P56589 Peroxisomal biogenesis factor 3 373 42140 8.37 2 Peroxisome membrane;Nucleoplasm;Peroxisome Peroxisome biogenesis disorder 10A;Peroxisome biogenesis disorder complementation group 12;Peroxisome biogenesis disorder 10B Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes. NA Belongs to the peroxin-3 family. Peroxisome;ABC transporters in lipid homeostasis;Class I peroxisomal membrane protein import PE1 6 +NX_P56597 Nucleoside diphosphate kinase homolog 5 212 24236 5.89 0 Nucleoplasm;Nucleus NA Does not seem to have NDK kinase activity. Confers protection from cell death by Bax and alters the cellular levels of several antioxidant enzymes including Gpx5. May play a role in spermiogenesis by increasing the ability of late-stage spermatids to eliminate reactive oxygen species (By similarity). NA Belongs to the NDK family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways PE1 5 +NX_P56645 Period circadian protein homolog 3 1201 131888 6.44 0 Cytoplasm;Cytosol;Nucleus Advanced sleep phase syndrome, familial, 3 Originally described as a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1, NR1D2, RORA, RORB and RORG, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. Has a redundant role with the other PER proteins PER1 and PER2 and is not essential for the circadian rhythms maintenance. In contrast, plays an important role in sleep-wake timing and sleep homeostasis probably through the transcriptional regulation of sleep homeostasis-related genes, without influencing circadian parameters. Can bind heme. Ubiquitinated.;Phosphorylation by CSNK1E is weak and appears to require association with PER1 and translocation to the nucleus. NA Circadian rhythm - mammal;Herpes simplex infection PE1 1 +NX_P56693 Transcription factor SOX-10 466 49911 6.19 0 Mitochondrion outer membrane;Cytoplasm;Nucleoplasm;Nucleus Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease;Waardenburg syndrome 2E;Waardenburg syndrome 4C Transcription factor that plays a central role in developing and mature glia. Specifically activates expression of myelin genes, during oligodendrocyte (OL) maturation, such as DUSP15 and MYRF, thereby playing a central role in oligodendrocyte maturation and CNS myelination. Once induced, MYRF cooperates with SOX10 to implement the myelination program. Transcriptional activator of MITF, acting synergistically with PAX3 (PubMed:21965087). NA NA NA PE1 22 +NX_P56696 Potassium voltage-gated channel subfamily KQT member 4 695 77101 9.6 6 Basal cell membrane Deafness, autosomal dominant, 2A Probably important in the regulation of neuronal excitability. May underlie a potassium current involved in regulating the excitability of sensory cells of the cochlea. KCNQ4 channels are blocked by linopirdin, XE991 and bepridil, whereas clofilium is without significant effect. Muscarinic agonist oxotremorine-M strongly suppress KCNQ4 current in CHO cells in which cloned KCNQ4 channels were coexpressed with M1 muscarinic receptors. NA Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.4/KCNQ4 sub-subfamily. Cholinergic synapse;Voltage gated Potassium channels PE1 1 +NX_P56703 Proto-oncogene Wnt-3 355 39645 7.47 0 Extracellular matrix;Secreted Tetraamelia syndrome 1 Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (PubMed:26902720). Required for normal gastrulation, formation of the primitive streak, and for the formation of the mesoderm during early embryogenesis. Required for normal formation of the apical ectodermal ridge (By similarity). Required for normal embryonic development, and especially for limb development (PubMed:14872406). Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Belongs to the Wnt family. Wnt signaling pathway;Hedgehog signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors);TCF dependent signaling in response to WNT PE1 17 +NX_P56704 Protein Wnt-3a 352 39365 8.52 0 Extracellular matrix;Secreted NA Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (PubMed:20093360, PubMed:21244856, PubMed:24841207, PubMed:26902720). Required for normal embryonic mesoderm development and formation of caudal somites. Required for normal morphogenesis of the developing neural tube (By similarity). Mediates self-renewal of the stem cells at the bottom on intestinal crypts (in vitro) (PubMed:26902720). Proteolytic processing by TIKI1 and TIKI2 promotes oxidation and formation of large disulfide-bond oligomers, leading to inactivation of WNT3A.;Disulfide bonds have critical and distinct roles in secretion and activity. Loss of each conserved cysteine in WNT3A results in high molecular weight oxidized Wnt oligomers, which are formed through inter-Wnt disulfide bonding.;Palmitoleoylation by PORCN is required for efficient binding to frizzled receptors. Palmitoleoylation is required for proper trafficking to cell surface, vacuolar acidification is critical to release palmitoleoylated WNT3A from WLS in secretory vesicles (PubMed:20826466, PubMed:21244856, PubMed:24292069). Depalmitoleoylated by NOTUM, leading to inhibit Wnt signaling pathway, possibly by promoting disulfide bond formation and oligomerization (PubMed:25731175). Belongs to the Wnt family. Wnt signaling pathway;Hedgehog signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors);TCF dependent signaling in response to WNT;Negative regulation of TCF-dependent signaling by WNT ligand antagonists;Regulation of FZD by ubiquitination;RNF mutants show enhanced WNT signaling and proliferation;Disassembly of the destruction complex and recruitment of AXIN to the membrane PE1 1 +NX_P56705 Protein Wnt-4 351 39052 8.92 0 Cytoplasmic vesicle;Extracellular matrix 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs;Mullerian aplasia and hyperandrogenism Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Plays an important role in the embryonic development of the urogenital tract and the lung (PubMed:15317892, PubMed:16959810, PubMed:18179883, PubMed:18182450). Required for normal mesenchyme to epithelium transition during embryonic kidney development. Required for the formation of early epithelial renal vesicles during kidney development (By similarity). Required for normal formation of the Mullerian duct in females, and normal levels of oocytes in the ovaries (PubMed:15317892, PubMed:16959810, PubMed:18182450). Required for normal down-regulation of 3 beta-hydroxysteroid dehydrogenase in the ovary (PubMed:15317892, PubMed:16959810, PubMed:18182450). Required for normal lung development and for normal patterning of trachael cartilage rings (By similarity). Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Belongs to the Wnt family. Wnt signaling pathway;Hedgehog signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors);TCF dependent signaling in response to WNT;PCP/CE pathway;Negative regulation of TCF-dependent signaling by WNT ligand antagonists PE1 1 +NX_P56706 Protein Wnt-7b 349 39327 9.11 0 Extracellular matrix;Secreted NA Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway (PubMed:30026314). Required for normal fusion of the chorion and the allantois during placenta development (By similarity). Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation (PubMed:30026314). Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Belongs to the Wnt family. Wnt signaling pathway;Hedgehog signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors) PE1 22 +NX_P56715 Oxygen-regulated protein 1 2156 240661 5.55 0 Photoreceptor outer segment;Cilium axoneme Retinitis pigmentosa 1 Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme (By similarity). NA NA NA PE1 8 +NX_P56730 Neurotrypsin 875 97067 8.41 0 Nucleoplasm;Secreted;Cytoskeleton Mental retardation, autosomal recessive 1 Plays a role in neuronal plasticity and the proteolytic action may subserve structural reorganizations associated with learning and memory operations. NA Belongs to the peptidase S1 family. NA PE1 4 +NX_P56746 Claudin-15 228 24356 5.61 4 Tight junction;Cell membrane NA Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. While some claudin family members function as impermeable barriers, others mediate the permeability to ions and small molecules. Often, several claudin family members are coexpressed and interact with each other, and this determines the overall permeability. CLDN15 forms tight junctions that mediate the paracellular transport of small monovalent cations along a concentration gradient, due to selective permeability for Na(+), Li(+) and K(+) ions, but selects against Cl(-) ions. Plays an important role in paracellular Na(+) transport in the intestine and in Na(+) homeostasis. Required for normal Na(+)-dependent intestinal nutrient uptake. Palmitoylated. Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE1 7 +NX_P56747 Claudin-6 220 23292 8.32 4 Tight junction;Cell membrane NA (Microbial infection) Acts as a receptor for hepatitis C virus (HCV) entry into hepatic cells.;Plays a major role in tight junction-specific obliteration of the intercellular space. NA Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE1 16 +NX_P56748 Claudin-8 225 24845 9 4 Tight junction;Cell membrane NA Tight-junction protein required for paracellular chloride transport in the kidney. Mediates recruitment of CLDN4 to tight junction in the kidney. Claudins play a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Ubiquitinated by the BCR(KLHL3) E3 ubiquitin ligase complex in the kidney, leading to its degradation. Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE1 21 +NX_P56749 Claudin-12 244 27110 8.8 4 Tight junction;Cell membrane NA Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. NA Belongs to the claudin family. Tight junction interactions PE1 7 +NX_P56750 Claudin-17 224 24603 9.8 4 Tight junction;Cell membrane NA Channel-forming tight junction protein with selectivity for anions, including chloride and bicarbonate, and for solutes smaller than 9 Angstrom in diameter. In the kidney proximal tubule, may be involved in quantitative reabsorption of filtered anions. Does not affect water permeability. NA Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE1 21 +NX_P56817 Beta-secretase 1 501 55764 5.31 1 trans-Golgi network;Cell membrane;Recycling endosome;Early endosome;Cell surface;Cytoplasmic vesicle membrane;Endosome;Endoplasmic reticulum;Late endosome;Lysosome;Dendrite;Axon;Membrane raft NA Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves at the N-terminus of the A-beta peptide sequence, between residues 671 and 672 of APP, leads to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase (PubMed:10656250, PubMed:10677483, PubMed:20354142). Cleaves CHL1 (By similarity). Phosphorylation at Ser-498 is required for interaction with GGA1 and retrograded transport from endosomal compartments to the trans-Golgi network. Non-phosphorylated BACE1 enters a direct recycling route to the cell surface.;Acetylated in the endoplasmic reticulum at Lys-126, Lys-275, Lys-279, Lys-285, Lys-299, Lys-300 and Lys-307. Acetylation by NAT8 and NAT8B is transient and deacetylation probably occurs in the Golgi. Acetylation regulates the maturation, the transport to the plasma membrane, the stability and the expression of the protein.;N-Glycosylated (PubMed:11083922, PubMed:17425515). Addition of a bisecting N-acetylglucosamine by MGAT3 blocks lysosomal targeting, further degradation and is required for maintaining stability under stress conditions (By similarity).;Palmitoylation mediates lipid raft localization.;Ubiquitinated at Lys-501, ubiquitination leads to lysosomal degradation (PubMed:27302062, PubMed:16033761, PubMed:20484053, PubMed:23109336). Monoubiquitinated and 'Lys-63'-linked polyubitinated (PubMed:20484053). Deubiquitnated by USP8; inhibits lysosomal degradation (PubMed:27302062). Belongs to the peptidase A1 family. Alzheimer's disease;Amyloid fiber formation PE1 11 +NX_P56851 Epididymal secretory protein E3-beta 147 17584 6.51 0 Secreted NA Possible function in sperm maturation. NA NA NA PE1 14 +NX_P56856 Claudin-18 261 27856 8.39 4 Tight junction;Cell membrane NA Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. NA Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE1 3 +NX_P56880 Claudin-20 219 23515 6.98 4 Tight junction;Cell membrane NA Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. NA Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE2 6 +NX_P56915 Homeobox protein goosecoid 257 28150 8.86 0 Nucleus Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural components of the middle ear; required for the development of the entire tympanic ring (By similarity). Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals. NA Belongs to the paired homeobox family. Bicoid subfamily. NA PE1 14 +NX_P56937 3-keto-steroid reductase 341 38206 8.35 1 Cell membrane NA Responsible for the reduction of the keto group on the C-3 of sterols. Phosphorylated. Belongs to the short-chain dehydrogenases/reductases (SDR) family. ERG27 subfamily. Steroid biosynthesis; estrogen biosynthesis.;Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 5/6.;Steroid biosynthesis;Steroid hormone biosynthesis;Metabolic pathways;Cholesterol biosynthesis PE1 1 +NX_P56945 Breast cancer anti-estrogen resistance protein 1 870 93372 5.41 0 Cytoplasm;Cytosol;Focal adhesion;Cell membrane NA Docking protein which plays a central coordinating role for tyrosine kinase-based signaling related to cell adhesion. Implicated in induction of cell migration. Overexpression confers antiestrogen resistance on breast cancer cells. Dephosphorylated by PTPN14 at Tyr-128.;PTK2/FAK1 activation mediates phosphorylation at the YDYVHL motif; phosphorylation is most likely catalyzed by SRC family members. SRC-family kinases are recruited to the phosphorylated sites and can phosphorylate other tyrosine residues. Tyrosine phosphorylation is triggered by integrin-mediated adhesion of cells to the extracellular matrix.;BCAR1 is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255);BCAR1 is phosphorylated by BMX (Phosphotyrosine:PTM-0255) Belongs to the CAS family. Chemokine signaling pathway;Focal adhesion;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;VEGFA-VEGFR2 Pathway;Downstream signal transduction;p130Cas linkage to MAPK signaling for integrins;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases PE1 16 +NX_P56962 Syntaxin-17 302 33403 6.14 2 Autophagosome membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane;Smooth endoplasmic reticulum membrane;Nucleolus;COPII-coated vesicle membrane;Cytosol NA SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion (PubMed:23217709, PubMed:25686604, PubMed:28306502). STX17 is a SNARE of the autophagosome involved in autophagy through the direct control of autophagosome membrane fusion with the lysosome membrane (PubMed:23217709, PubMed:25686604, PubMed:28306502). May also play a role in the early secretory pathway where it may maintain the architecture of the endoplasmic reticulum-Golgi intermediate compartment/ERGIC and Golgi and/or regulate transport between the endoplasmic reticulum, the ERGIC and the Golgi (PubMed:21545355). Phosphorylated at Tyr-157 probably by ABL1. Dephosphorylation by PTPN2; regulates exit from the endoplasmic reticulum (By similarity). Belongs to the syntaxin family. SNARE interactions in vesicular transport;COPII-mediated vesicle transport PE1 9 +NX_P56975 Pro-neuregulin-3, membrane-bound isoform 720 77901 7.79 1 Cytoplasmic vesicle;Secreted;Cell membrane NA Direct ligand for the ERBB4 tyrosine kinase receptor. Binding results in ligand-stimulated tyrosine phosphorylation and activation of the receptor. Does not bind to the EGF receptor, ERBB2 or ERBB3 receptors. May be a survival factor for oligodendrocytes. Proteolytic cleavage close to the plasma membrane on the external face leads to the release of the soluble growth factor form.;Extensive glycosylation precedes the proteolytic cleavage (By similarity).;Is glycosylated. Belongs to the neuregulin family. ErbB signaling pathway;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Signaling by ERBB2;Signaling by ERBB4;SHC1 events in ERBB2 signaling;PI3K events in ERBB4 signaling;SHC1 events in ERBB4 signaling;Nuclear signaling by ERBB4;GRB2 events in ERBB2 signaling;PI3K events in ERBB2 signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;ERBB2 Regulates Cell Motility;ERBB2 Activates PTK6 Signaling;Downregulation of ERBB2 signaling PE1 10 +NX_P57052 Splicing regulator RBM11 281 32179 8.87 0 Nucleoplasm;Nucleus speckle NA Tissue-specific splicing factor with potential implication in the regulation of alternative splicing during neuron and germ cell differentiation. Antagonizes SRSF1-mediated BCL-X splicing. May affect the choice of alternative 5' splice sites by binding to specific sequences in exons and antagonizing the SR protein SRSF1. NA NA NA PE1 21 +NX_P57053 Histone H2B type F-S 126 13944 10.37 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.;Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid. Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons.;GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes (By similarity).;Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes. Belongs to the histone H2B family. Transcriptional regulation by small RNAs;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;G2/M DNA damage checkpoint;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 21 +NX_P57054 Phosphatidylinositol N-acetylglucosaminyltransferase subunit P 158 18089 8.8 2 Membrane;Cytoplasmic vesicle Epileptic encephalopathy, early infantile, 55 Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis. NA Belongs to the PIGP family. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Synthesis of glycosylphosphatidylinositol (GPI) PE1 21 +NX_P57055 Protein ripply3 190 20368 5.98 0 Nucleus NA Acts as a transcriptional corepressor. Negative regulator of the transcriptional activity of TBX1. Plays a role in the development of the pharyngeal apparatus and derivatives (By similarity). NA Belongs to the ripply family. NA PE1 21 +NX_P57057 Glucose-6-phosphate exchanger SLC37A1 533 57648 8.61 12 Endoplasmic reticulum membrane NA Inorganic phosphate and glucose-6-phosphate antiporter. May transport cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocate inorganic phosphate into the opposite direction. Independent of a lumenal glucose-6-phosphatase. May not play a role in homeostatic regulation of blood glucose levels. NA Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family. Gluconeogenesis PE1 21 +NX_P57058 Hormonally up-regulated neu tumor-associated kinase 714 79686 9.24 0 Nucleoplasm;Cell membrane NA NA NA Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily. NA PE1 21 +NX_P57059 Serine/threonine-protein kinase SIK1 783 84902 6.81 0 Cytoplasm;Nucleus Epileptic encephalopathy, early infantile, 30 Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, gluconeogenesis and lipogenesis regulation, muscle growth and differentiation and tumor suppression. Phosphorylates HDAC4, HDAC5, PPME1, SREBF1, CRTC1/TORC1. Inhibits CREB activity by phosphorylating and inhibiting activity of TORCs, the CREB-specific coactivators, like CRTC2/TORC2 and CRTC3/TORC3 in response to cAMP signaling (PubMed:29211348). Acts as a tumor suppressor and plays a key role in p53/TP53-dependent anoikis, a type of apoptosis triggered by cell detachment: required for phosphorylation of p53/TP53 in response to loss of adhesion and is able to suppress metastasis. Part of a sodium-sensing signaling network, probably by mediating phosphorylation of PPME1: following increases in intracellular sodium, SIK1 is activated by CaMK1 and phosphorylates PPME1 subunit of protein phosphatase 2A (PP2A), leading to dephosphorylation of sodium/potassium-transporting ATPase ATP1A1 and subsequent increase activity of ATP1A1. Acts as a regulator of muscle cells by phosphorylating and inhibiting class II histone deacetylases HDAC4 and HDAC5, leading to promote expression of MEF2 target genes in myocytes. Also required during cardiomyogenesis by regulating the exit of cardiomyoblasts from the cell cycle via down-regulation of CDKN1C/p57Kip2. Acts as a regulator of hepatic gluconeogenesis by phosphorylating and repressing the CREB-specific coactivators CRTC1/TORC1 and CRTC2/TORC2, leading to inhibit CREB activity. Also regulates hepatic lipogenesis by phosphorylating and inhibiting SREBF1. In concert with CRTC1/TORC1, regulates the light-induced entrainment of the circadian clock by attenuating PER1 induction; represses CREB-mediated transcription of PER1 by phosphorylating and deactivating CRTC1/TORC1 (By similarity). Phosphorylated at Thr-182 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39, leading to its activation. Phosphorylation at Thr-182 promotes autophosphorylation at Ser-186, which is required for sustained activity. Autophosphorylation at Ser-186 is maintained by sequential phosphorylation at Thr-182 by GSK3-beta. GSK3-beta cannot initiate phosphorylation at Thr-182, it can only maintain it. Phosphorylation at Ser-575 in response to cAMP signaling promotes translocation to the cytoplasm (PubMed:29211348). Phosphorylation at Thr-322 by CaMK1 following intracellular sodium concentration leads to activation. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. AMPK subfamily. Circadian Clock PE1 21 +NX_P57060 RWD domain-containing protein 2B 319 36332 5.61 0 NA NA NA NA NA NA PE1 21 +NX_P57071 PR domain zinc finger protein 15 1507 169269 8.59 0 Nucleoplasm;Nucleus NA Sequence-specific DNA-binding transcriptional regulator. Plays a role as a molecular node in a transcriptional network regulating embryonic development and cell fate decision. Stimulates the expression of upstream key transcriptional activators and repressors of the Wnt/beta-catenin and MAPK/ERK pathways, respectively, that are essential for naive pluripotency and self-renewal maintenance of embryonic stem cells (ESCs). Specifically promotes SPRY1 and RSPO1 transcription activation through recognition and direct binding of a specific DNA sequence in their promoter regions. Involved in early embryo development (By similarity). Plays also a role in induced pluripotent stem cells (iPSCs) reprogramming (PubMed:28740264). NA Belongs to the class V-like SAM-binding methyltransferase superfamily. NA PE1 21 +NX_P57073 Transcription factor SOX-8 446 47314 6.49 0 Nucleoplasm;Nucleus NA May play a role in central nervous system, limb and facial development. May be involved in male sex determination. Binds the consensus motif 5'-[AT][AT]CAA[AT]G-3' (By similarity). NA NA NA PE1 16 +NX_P57075 Ubiquitin-associated and SH3 domain-containing protein A 661 74123 7.77 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Nucleus NA Interferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases. Promotes accumulation of activated target receptors, such as T-cell receptors, EGFR and PDGFRB, on the cell surface. Exhibits negligigle protein tyrosine phosphatase activity at neutral pH. May act as a dominant-negative regulator of UBASH3B-dependent dephosphorylation. May inhibit dynamin-dependent endocytic pathways by functionally sequestering dynamin via its SH3 domain. NA NA NA PE1 21 +NX_P57076 Cilia- and flagella-associated protein 298 290 33224 6.99 0 Cytoplasm;Cilium basal body Ciliary dyskinesia, primary, 26 Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly (PubMed:24094744). Seems to be important for initiation rather than maintenance of cilium motility (By similarity). Required for correct positioning of the cilium at the apical cell surface, suggesting an additional role in the planar cell polarity (PCP) pathway (By similarity). May suppress canonical Wnt signaling activity (By similarity). NA Belongs to the CFAP298 family. NA PE1 21 +NX_P57077 MAP3K7 C-terminal-like protein 242 27248 4.81 0 Cytoplasm;Nucleoplasm;Nucleus NA NA NA NA NA PE1 21 +NX_P57078 Receptor-interacting serine/threonine-protein kinase 4 832 91611 6.69 0 Membrane;Cytoplasm Bartsocas-Papas syndrome;CHAND syndrome Involved in stratified epithelial development. It is a direct transcriptional target of TP63. Plays a role in NF-kappa-B activation. May be phosphorylated by MAP3K2 and MAP3K3.;Polyubiquitinated with 'Lys-48' and 'Lys-63'-linked chains by BIRC2/c-IAP1 and BIRC3/c-IAP2, leading to activation of NF-kappa-B.;Proteolytically cleaved by during Fas-induced apoptosis. Cleavage at Asp-388 and Asp-426.;RIPK4 is phosphorylated by PRKCB (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. NA PE1 21 +NX_P57081 tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 412 45490 6.71 0 Nucleoplasm;Cytosol;Nucleus;Chromosome Galloway-Mowat syndrome 6;Microcephaly, growth deficiency, seizures, and brain malformations Non-catalytic component of a methyltransferase complex required for the formation of N(7)-methylguanine in a subset of RNA species, such as tRNAs, mRNAs and microRNAs (miRNAs) (PubMed:12403464, PubMed:31031084, PubMed:31031083). In the methyltransferase complex, it is required to stabilize and induce conformational changes of the catalytic subunit (PubMed:12403464). Required for the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA (PubMed:12403464, PubMed:31031084). Also required for the formation of N(7)-methylguanine at internal sites in a subset of mRNAs (PubMed:31031084). Also required for methylation of a specific subset of miRNAs, such as let-7 (PubMed:31031083). Independently of METTL1, also plays a role in genome stability: localizes at the DNA replication site and regulates endonucleolytic activities of FEN1 (PubMed:26751069). NA Belongs to the WD repeat TRM82 family. tRNA modification; N(7)-methylguanine-tRNA biosynthesis.;tRNA modification in the nucleus and cytosol PE1 21 +NX_P57082 T-box transcription factor TBX4 545 60204 7.34 0 Cytoplasmic vesicle;Nucleus Ischiocoxopodopatellar syndrome Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. NA NA NA PE1 17 +NX_P57086 SCAN domain-containing protein 1 179 19082 9.73 0 Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA May regulate transcriptional activity. NA NA NA PE1 20 +NX_P57087 Junctional adhesion molecule B 298 33207 9.23 1 Nucleoplasm;Tight junction;Cell membrane NA May play a role in the processes of lymphocyte homing to secondary lymphoid organs. NA Belongs to the immunoglobulin superfamily. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Epithelial cell signaling in Helicobacter pylori infection;Integrin cell surface interactions;Cell surface interactions at the vascular wall PE1 21 +NX_P57088 Transmembrane protein 33 247 27978 9.76 3 Endoplasmic reticulum membrane;Nucleus envelope;Melanosome NA Acts as a regulator of the tubular endoplasmic reticulum (ER) network. Suppresses the RTN3/4-induced formation of the ER tubules (PubMed:25612671). Positively regulates PERK-mediated and IRE1-mediated unfolded protein response signaling (PubMed:26268696). NA Belongs to the PER33/POM33 family. NA PE1 4 +NX_P57103 Sodium/calcium exchanger 3 927 103010 5.01 11 Mitochondrion outer membrane;Dendritic spine;Endoplasmic reticulum membrane;Cell membrane;Cell junction;Perikaryon;Sarcoplasm;Sarcolemma;Dendrite;Perinuclear region NA Mediates the electrogenic exchange of Ca(2+) against Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes. Contributes to cellular Ca(2+) homeostasis in excitable cells, both in muscle and in brain. In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum. SLC8A3 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels rapidly return to baseline. Contributes to Ca(2+) transport during excitation-contraction coupling in muscle. In neurons, contributes to the rapid decrease of cytoplasmic Ca(2+) levels back to baseline after neuronal activation, and thereby contributes to modulate synaptic plasticity, learning and memory (By similarity). Required for normal oligodendrocyte differentiation and for normal myelination (PubMed:21959935). Mediates Ca(2+) efflux from mitochondria and contributes to mitochondrial Ca(2+) ion homeostasis (By similarity). NA Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC8 subfamily. Calcium signaling pathway;Protein digestion and absorption;Reduction of cytosolic Ca++ levels;Sodium/Calcium exchangers;Ion homeostasis;Mitochondrial calcium ion transport PE1 14 +NX_P57105 Synaptojanin-2-binding protein 145 15928 5.86 1 Mitochondrion outer membrane;Mitochondrion NA Regulates endocytosis of activin type 2 receptor kinases through the Ral/RALBP1-dependent pathway and may be involved in suppression of activin-induced signal transduction. NA NA NA PE1 14 +NX_P57678 Gem-associated protein 4 1058 120037 5.7 0 Cytoplasm;Gem;Nucleolus;Cytosol;Nucleus Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. NA NA RNA transport;snRNP Assembly PE1 17 +NX_P57679 Ellis-van Creveld syndrome protein 992 111990 6.29 1 Cell membrane;Cilium;Cilium basal body;Nucleoplasm;Cilium membrane;Cytosol Ellis-van Creveld syndrome;Acrofacial dysostosis, Weyers type Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development. NA NA Hedgehog 'on' state;Activation of SMO PE1 4 +NX_P57682 Krueppel-like factor 3 345 38829 9.44 0 Nucleoplasm;Nucleus NA Binds to the CACCC box of erythroid cell-expressed genes. May play a role in hematopoiesis (By similarity). Sumoylated with SUMO1. Sumoylation is enhanced by PIAS1, PIAS2alpha and PIAS2beta, and PIAS4, but not by Pc2. Enhances transcriptional repression, but has no effect on DNA binding. Sumoylation on Lys-198 is the major site (By similarity). Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 4 +NX_P57721 Poly(rC)-binding protein 3 371 39465 8.22 0 Nucleoplasm;Cytoplasm;Mitochondrion;Cytoplasmic vesicle NA Single-stranded nucleic acid binding protein that binds preferentially to oligo dC. NA NA NA PE1 21 +NX_P57723 Poly(rC)-binding protein 4 403 41482 8.42 0 Cytoplasm;Cytosol NA Single-stranded nucleic acid binding protein that binds preferentially to oligo dC. NA NA Transcriptional activation of cell cycle inhibitor p21;TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest;FOXO-mediated transcription of cell cycle genes PE1 3 +NX_P57727 Transmembrane protease serine 3 454 49405 5.95 1 Endoplasmic reticulum membrane Deafness, autosomal recessive, 8 Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity). Activates ENaC (in vitro). Undergoes autoproteolytic activation. Belongs to the peptidase S1 family. NA PE1 21 +NX_P57729 Ras-related protein Rab-38 211 23712 7.65 0 Mitochondrion;Cell membrane;Phagosome membrane;Melanosome;Phagosome;Melanosome membrane;Nucleus NA May be involved in melanosomal transport and docking. Involved in the proper sorting of TYRP1. Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with ANKRD27 and VAMP7 (By similarity). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays an important role in the control of melanin production and melanosome biogenesis (PubMed:23084991). In concert with RAB32, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity). Although at least one in vitro system can process and methylate the prenylated C-terminal, in an in vitro system that normally express Rab-38 and in vivo the prenylated C-terminal is not proteolytically processed and not methylated. Belongs to the small GTPase superfamily. Rab family. RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 11 +NX_P57730 Caspase recruitment domain-containing protein 18 90 10138 6.27 0 NA NA Inhibits generation of IL-1-beta by interacting with caspase-1 and preventing its association with RIP2. Down-regulates the release of IL1B. NA NA NOD-like receptor signaling pathway PE1 11 +NX_P57735 Ras-related protein Rab-25 213 23496 5.72 0 Cell membrane;Cell junction;Cytoplasmic vesicle;Cytosol;Pseudopodium membrane NA Involved in the regulation of cell survival. Promotes invasive migration of cells in which it functions to localize and maintain integrin alpha-V/beta-1 at the tips of extending pseudopodia (PubMed:17925226). Involved in the regulation of epithelial morphogenesis through the control of CLDN4 expression and localization at tight junctions (By similarity). May selectively regulate the apical recycling pathway. Together with MYO5B regulates transcytosis (By similarity). NA Belongs to the small GTPase superfamily. Rab family. RAB geranylgeranylation PE1 1 +NX_P57737 Coronin-7 925 100605 5.51 0 trans-Golgi network;Cytoplasmic vesicle;Cytosol;Golgi apparatus membrane NA F-actin regulator involved in anterograde Golgi to endosome transport: upon ubiquitination via 'Lys-33'-linked ubiquitin chains by the BCR(KLHL20) E3 ubiquitin ligase complex, interacts with EPS15 and localizes to the trans-Golgi network, where it promotes actin polymerization, thereby facilitating post-Golgi trafficking. May play a role in the maintenance of the Golgi apparatus morphology. The membrane-associated form is phosphorylated on tyrosine residues.;Ubiquitinated via 'Lys-33'-linked ubiquitin chains by the BCR(KLHL20) E3 ubiquitin ligase complex: 'Lys-33'-linked ubiquitination promotes interaction with EPS15 and facilitates actin polymerization at the trans-Golgi network, thereby facilitating post-Golgi trafficking. Deubiquitinated by ZRANB1/TRABID. Belongs to the WD repeat coronin family. NA PE1 16 +NX_P57738 T-cell leukemia translocation-altered gene protein 103 11341 5.51 2 Membrane;Cytosol NA May be required for cellular fusion during osteoclastogenesis. NA Belongs to the TCTA family. NA PE1 3 +NX_P57739 Claudin-2 230 24549 8.47 4 Nucleoplasm;Tight junction;Cell junction;Cell membrane NA Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. The disulfide bond is necessary for pore formation, but is not required for correct protein trafficking. Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE1 X +NX_P57740 Nuclear pore complex protein Nup107 925 106374 5.28 0 Nuclear pore complex;Nucleus membrane;Nucleoplasm;Centrosome;Kinetochore Nephrotic syndrome 11;Galloway-Mowat syndrome 7;Ovarian dysgenesis 6 Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:12552102, PubMed:15229283, PubMed:30179222). Required for the assembly of peripheral proteins into the NPC (PubMed:15229283, PubMed:12552102). May anchor NUP62 to the NPC (PubMed:15229283). Involved in nephrogenesis (PubMed:30179222). NA Belongs to the nucleoporin Nup84/Nup107 family. RNA transport;Separation of Sister Chromatids;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 12 +NX_P57764 Gasdermin-D 484 52801 5 0 Inflammasome;Cell membrane;Secreted;Nucleoplasm;Cytosol NA Gasdermin-D, N-terminal: Promotes pyroptosis in response to microbial infection and danger signals. Produced by the cleavage of gasdermin-D by inflammatory caspases CASP1 or CASP4 in response to canonical, as well as non-canonical (such as cytosolic LPS) inflammasome activators (PubMed:26375003, PubMed:26375259, PubMed:27418190). After cleavage, moves to the plasma membrane where it strongly binds to inner leaflet lipids, including monophosphorylated phosphatidylinositols, such as phosphatidylinositol 4-phosphate, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate, as well as phosphatidylinositol (3,4,5)-bisphosphate, and more weakly to phosphatidic acid and phosphatidylserine (PubMed:27281216). Homooligomerizes within the membrane and forms pores of 10 - 15 nanometers (nm) of inner diameter, possibly allowing the release of mature IL1B and triggering pyroptosis (PubMed:27418190, PubMed:27281216). Exhibits bactericidal activity. Gasdermin-D, N-terminal released from pyroptotic cells into the extracellular milieu rapidly binds to and kills both Gram-negative and Gram-positive bacteria, without harming neighboring mammalian cells, as it does not disrupt the plasma membrane from the outside due to lipid-binding specificity (PubMed:27281216). Under cell culture conditions, also active against intracellular bacteria, such as Listeria monocytogenes (By similarity). Strongly binds to bacterial and mitochondrial lipids, including cardiolipin. Does not bind to unphosphorylated phosphatidylinositol, phosphatidylethanolamine nor phosphatidylcholine (PubMed:27281216). Cleavage at Asp-275 by CASP1 (mature and uncleaved precursor forms) or CASP4 relieves autoinhibition and is sufficient to initiate pyroptosis (PubMed:26375003). Cleavage at Asp-87 by CASP3 (PubMed:28045099). Belongs to the gasdermin family. Neutrophil degranulation PE1 8 +NX_P57768 Sorting nexin-16 344 39167 4.59 0 Cytoplasm;Lysosome;Early endosome membrane;Cytoplasmic vesicle;Late endosome membrane NA May be involved in several stages of intracellular trafficking. Plays a role in protein transport from early to late endosomes. Plays a role in protein transport to the lysosome. Promotes degradation of EGFR after EGF signaling. Plays a role in intracellular transport of vesicular stomatitis virus nucleocapsids from the endosome to the cytoplasm. NA Belongs to the sorting nexin family. NA PE1 8 +NX_P57771 Regulator of G-protein signaling 8 180 20917 9.36 0 Cell membrane;Perikaryon;Membrane;Dendrite;Nucleus NA Regulates G protein-coupled receptor signaling cascades, including signaling via muscarinic acetylcholine receptor CHRM2 and dopamine receptor DRD2 (By similarity). Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:18434541). Modulates the activity of potassium channels that are activated in response to DRD2 and CHRM2 signaling (By similarity). NA NA G alpha (i) signalling events PE1 1 +NX_P57772 Selenocysteine-specific elongation factor 596 65305 8.61 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Translation factor necessary for the incorporation of selenocysteine into proteins. It probably replaces EF-Tu for the insertion of selenocysteine directed by the UGA codon. SelB binds GTP and GDP. NA Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. SelB subfamily. Selenocysteine synthesis PE1 3 +NX_P57773 Gap junction alpha-9 protein 515 58842 8.67 4 Gap junction;Cell membrane NA One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. NA Belongs to the connexin family. Alpha-type (group II) subfamily. Gap junction assembly PE2 1 +NX_P57775 F-box/WD repeat-containing protein 4 412 46337 7.54 0 Golgi apparatus Split-hand/foot malformation 3 Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate in Wnt signaling. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Association of TriC/CCT with target proteins during biosynthesis;Neddylation PE1 10 +NX_P57789 Potassium channel subfamily K member 10 538 59765 8.9 4 Membrane NA Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents. Activated by arachidonic acid and other naturally occurring unsaturated free fatty acids. NA Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. Gastric acid secretion;TWIK related potassium channel (TREK);Phase 4 - resting membrane potential PE1 14 +NX_P57796 Calcium-binding protein 4 275 30433 5.27 0 Cytoplasm;Presynapse Cone-rod synaptic disorder, congenital non-progressive Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages (By similarity). Phosphorylated. Phosphorylation levels change with the light conditions and regulate the activity (By similarity). NA NA PE1 11 +NX_P58004 Sestrin-2 480 54494 5.57 0 Cytoplasm;Cytosol NA Functions as an intracellular leucine sensor that negatively regulates the TORC1 signaling pathway through the GATOR complex. In absence of leucine, binds the GATOR subcomplex GATOR2 and prevents TORC1 signaling (PubMed:18692468, PubMed:25263562, PubMed:25457612, PubMed:26449471, PubMed:26612684, PubMed:26586190). Binding of leucine to SESN2 disrupts its interaction with GATOR2 thereby activating the TORC1 signaling pathway (PubMed:26449471, PubMed:26586190). This stress-inducible metabolic regulator also plays a role in protection against oxidative and genotoxic stresses. May negatively regulate protein translation in response to endoplasmic reticulum stress, via TORC1 (PubMed:24947615). May positively regulate the transcription by NFE2L2 of genes involved in the response to oxidative stress by facilitating the SQSTM1-mediated autophagic degradation of KEAP1 (PubMed:23274085). May also mediate TP53 inhibition of TORC1 signaling upon genotoxic stress (PubMed:18692468). Has an alkylhydroperoxide reductase activity born by the N-terminal domain of the protein (PubMed:26612684). Was originally reported to contribute to oxidative stress resistance by reducing PRDX1 (PubMed:15105503). However, this could not be confirmed (PubMed:19113821). Phosphorylated by ULK1 at multiple sites. Belongs to the sestrin family. p53 signaling pathway;TP53 Regulates Metabolic Genes PE1 1 +NX_P58005 Sestrin-3 492 57291 5.84 0 Nucleoplasm;Cytosol;Cytoplasm NA May function as an intracellular leucine sensor that negatively regulates the TORC1 signaling pathway (PubMed:25263562). May also regulate the insulin-receptor signaling pathway through activation of TORC2 (By similarity). This metabolic regulator may also play a role in protection against oxidative and genotoxic stresses (By similarity). NA Belongs to the sestrin family. p53 signaling pathway;TP53 Regulates Metabolic Genes PE1 11 +NX_P58012 Forkhead box protein L2 376 38772 9.26 0 Nucleoplasm;Nucleus;Cytoskeleton Premature ovarian failure 3;Blepharophimosis, ptosis, and epicanthus inversus syndrome Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and repression of the genetic program for somatic testis determination. Prevents trans-differentiation of ovary to testis through transcriptional repression of the Sertoli cell-promoting gene SOX9 (By similarity). Has apoptotic activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen (By similarity). Is a regulator of CYP19 expression (By similarity). Participates in SMAD3-dependent transcription of FST via the intronic SMAD-binding element (By similarity). Is a transcriptional repressor of STAR. Activates SIRT1 transcription under cellular stress conditions. Activates transcription of OSR2. Sumoylated with SUMO1; sumoylation is required for transcriptional repression activity.;FOXL2 is phosphorylated by LATS1 (Phosphoserine:PTM-0253) NA SUMOylation of transcription factors PE1 3 +NX_P58062 Serine protease inhibitor Kazal-type 7 85 9232 7.52 0 Secreted NA Probable serine protease inhibitor. NA NA NA PE1 5 +NX_P58107 Epiplakin 5088 555658 5.45 0 Basolateral cell membrane;Apicolateral cell membrane;Cell junction;Hemidesmosome;Cell projection;Tight junction;Cytoskeleton NA Cytoskeletal linker protein that connects to intermediate filaments and controls their reorganization in response to stress (PubMed:15671067, PubMed:27206504, PubMed:23398049). In response to mechanical stress like wound healing, is associated with the machinery for cellular motility by slowing down keratinocyte migration and proliferation and accelerating keratin bundling in proliferating keratinocytes thus contributing to tissue architecture (PubMed:27206504, PubMed:23398049). However in wound healing in corneal epithelium also positively regulates cell differentiation and proliferation and negatively regulates migration thereby controlling corneal epithelium morphogenesis and integrity. In response to cellular stress, plays a role in keratin filament reorganization, probably by protecting keratin filaments against disruption. During liver and pancreas injuries, plays a protective role by chaperoning disease-induced intermediate filament reorganization (By similarity). NA Belongs to the plakin or cytolinker family. NA PE1 8 +NX_P58166 Inhibin beta E chain 350 38561 9.49 0 Cytoplasmic vesicle;Secreted NA Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins. NA Belongs to the TGF-beta family. Cytokine-cytokine receptor interaction;TGF-beta signaling pathway;Glycoprotein hormones PE1 12 +NX_P58170 Olfactory receptor 1D5 312 35424 8.76 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 17 +NX_P58173 Olfactory receptor 2B6 313 35414 8.64 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 6 +NX_P58180 Olfactory receptor 4D2 307 34958 9.1 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 17 +NX_P58181 Olfactory receptor 10A3 314 35535 8.87 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_P58182 Olfactory receptor 12D2 307 34813 8.79 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 6 +NX_P58215 Lysyl oxidase homolog 3 753 83166 6.4 0 Cytoplasm;Nucleus;Extracellular space NA Shows protein-lysine 6-oxidase activity toward elastin and different types of collagens, with the highest activity toward collagen type VIII (PubMed:17018530).;Shows protein-lysine 6-oxidase activity toward elastin and different types of collagens, with the highest activity toward collagen type IV (PubMed:17018530).;Protein-lysine 6-oxidase that mediates the oxidation of peptidyl lysine residues to allysine in target proteins (PubMed:17018530, PubMed:28065600). Catalyzes the post-translational oxidative deamination of peptidyl lysine residues in precursors of elastin and different types of collagens, a prerequisite in the formation of cross-links between collagens and elastin (PubMed:17018530). Required for somite boundary formation by catalyzing oxidation of fibronectin (FN1), enhancing integrin signaling in myofibers and their adhesion to the myotendinous junction (MTJ) (By similarity). Acts as a regulator of inflammatory response by inhibiting differentiation of naive CD4(+) T-cells into T-helper Th17 or regulatory T-cells (Treg): acts by interacting with STAT3 in the nucleus and catalyzing both deacetylation and oxidation of lysine residues on STAT3, leading to disrupt STAT3 dimerization and inhibit STAT3 transcription activity (PubMed:28065600). Oxidation of lysine residues to allysine on STAT3 preferentially takes place on lysine residues that are acetylated (PubMed:28065600). Also able to catalyze deacetylation of lysine residues on STAT3 (PubMed:28065600). The lysine tyrosylquinone cross-link (LTQ) is generated by condensation of the epsilon-amino group of a lysine with a topaquinone produced by oxidation of tyrosine. Belongs to the lysyl oxidase family. Elastic fibre formation;Crosslinking of collagen fibrils PE1 2 +NX_P58294 Prokineticin-1 105 11715 9.01 0 Secreted NA Potently contracts gastrointestinal (GI) smooth muscle. Induces proliferation, migration and fenestration (the formation of membrane discontinuities) in capillary endothelial cells derived from endocrine glands. Has little or no effect on a variety of other endothelial and non-endothelial cell types. Induces proliferation and differentiation, but not migration, of enteric neural crest cells. Directly influences neuroblastoma progression by promoting the proliferation and migration of neuroblastoma cells. Positively regulates PTGS2 expression and prostaglandin synthesis. May play a role in placentation. May play a role in normal and pathological testis angiogenesis. NA Belongs to the AVIT (prokineticin) family. Peptide ligand-binding receptors;G alpha (q) signalling events PE1 1 +NX_P58304 Visual system homeobox 2 361 39411 7.11 0 Nucleus Microphthalmia with cataracts and iris abnormalities;Microphthalmia, isolated, 2;Microphthalmia, isolated, with coloboma, 3 Acts as a transcriptional regulator through binding to DNA at the consensus sequence 5'-[TC]TAATT[AG][AG]-3' upstream of gene promoters (PubMed:27301076). Plays a significant role in the specification and morphogenesis of the sensory retina (By similarity). Mediates differentiation of V2a interneurons by repression of motor neuron gene transcription, via competitively binding to response elements that are activated by the ISL1-LHX3 complex, such as VSX1 (PubMed:17919464, PubMed:27477290). Acts as a positive transcriptional regulator of NXNL1; regulation is significantly increased in synergy with VSX1 (By similarity). Acts as a negative transcriptional regulator of MITF (By similarity). Represses SAG transcription by competitive inhibition of ISL1-LHX3 response elements (PubMed:16236706, PubMed:27477290). Binds to the photoreceptor conserved element-1 (PCE-1) in the promoter of rod photoreceptor arrestin SAG and acts as a transcriptional repressor (By similarity). Plays a significant role in the specification and morphogenesis of the sensory retina (By similarity). Involved in the development of retinal ganglion cells (RGCs) which leads to release of SHH by RGCs, promoting Hedgehog signaling and subsequent proliferation of retinal progenitor cells (By similarity). Participates in the development of the cells of the inner nuclear layer, by promoting postnatal differentiation of bipolar cells with a comparable inhibition of rod cell differentiation (By similarity). May play a role in the maintenance of neural retina identity during development by regulation of canonical Wnt genes and CTNNB1 localization, suggesting a role in the regulation of canonical Wnt signaling (PubMed:27301076). NA Belongs to the paired homeobox family. NA PE1 14 +NX_P58317 Zinc finger protein 121 390 44694 8.37 0 Nucleoplasm;Nucleolus;Centrosome;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_P58335 Anthrax toxin receptor 2 489 53666 7.42 1 Endoplasmic reticulum membrane;Secreted;Cell membrane Hyaline fibromatosis syndrome Necessary for cellular interactions with laminin and the extracellular matrix. NA Belongs to the ATR family. Uptake and function of anthrax toxins PE1 4 +NX_P58340 Myeloid leukemia factor 1 268 30627 9.46 0 Cytoplasm;Cilium;Cilium basal body;Nucleoplasm;Cytosol;Nucleus NA Involved in lineage commitment of primary hemopoietic progenitors by restricting erythroid formation and enhancing myeloid formation. Interferes with erythropoietin-induced erythroid terminal differentiation by preventing cells from exiting the cell cycle through suppression of CDKN1B/p27Kip1 levels. Suppresses COP1 activity via CSN3 which activates p53 and induces cell cycle arrest. Binds DNA and affects the expression of a number of genes so may function as a transcription factor in the nucleus. Phosphorylation is required for binding to YWHAZ. Belongs to the MLF family. NA PE1 3 +NX_P58397 A disintegrin and metalloproteinase with thrombospondin motifs 12 1594 177676 8.25 0 Extracellular matrix;Mitochondrion;Nucleolus NA Metalloprotease that may play a role in the degradation of COMP. Cleaves also alpha-2 macroglobulin and aggregan. Has anti-tumorigenic properties. The precursor is cleaved by a furin endopeptidase.;Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).;Subjected to an intracellular maturation process yielding a 120 kDa N-terminal fragment containing the metalloproteinase, disintegrin, one TSP type-1 and the Cys-rich domains and a 83 kDa C-terminal fragment containing the spacer 2 and four TSP type-1 domains. NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 5 +NX_P58400 Neurexin-1-beta 472 50424 8.19 1 Presynaptic cell membrane NA Neuronal cell surface protein that may be involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins. May play a role in formation or maintenance of synaptic junctions. May mediate intracellular signaling. May play a role in angiogenesis (By similarity). Highly O-glycosylated and minor N-glycosylated. Belongs to the neurexin family. Cell adhesion molecules (CAMs);Neurexins and neuroligins PE1 2 +NX_P58401 Neurexin-2-beta 666 70927 5.96 1 Membrane NA Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. NA Belongs to the neurexin family. Cell adhesion molecules (CAMs);Neurexins and neuroligins PE1 11 +NX_P58417 Neurexophilin-1 271 31082 8.86 0 Secreted NA May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors. NA Belongs to the neurexophilin family. NA PE1 7 +NX_P58418 Clarin-1 232 25719 8.8 4 Cell membrane Retinitis pigmentosa 61;Usher syndrome 3A May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina. NA Belongs to the clarin family. NA PE1 3 +NX_P58499 Protein FAM3B 235 25982 8.97 0 Cytoplasmic vesicle;Secreted NA Induces apoptosis of alpha and beta cells in a dose- and time-dependent manner. O-glycosylated.;2 N-termini have been observed in the mature protein: the first at Glu-30, resulting from signal peptide cleavage, the second at Ser-46. Belongs to the FAM3 family. NA PE1 21 +NX_P58505 Uncharacterized protein C21orf58 322 35003 10.06 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 21 +NX_P58511 Small integral membrane protein 11A 58 6886 9.87 1 Membrane;Focal adhesion NA NA NA Belongs to the SMIM11 family. NA PE1 21 +NX_P58512 Uncharacterized protein encoded by LINC01547 204 21308 5.95 0 NA NA NA NA NA NA PE2 21 +NX_P58513 Putative uncharacterized protein encoded by LINC00158 81 9586 9.89 0 NA NA NA NA NA NA PE5 21 +NX_P58546 Myotrophin 118 12895 5.27 0 Cytoplasm;Cell membrane;Cytosol;Perinuclear region;Nucleus NA Promotes dimerization of NF-kappa-B subunits and regulates NF-kappa-B transcription factor activity (By similarity). Plays a role in the regulation of the growth of actin filaments. Inhibits the activity of the F-actin-capping protein complex formed by the CAPZA1 and CAPZB heterodimer. Promotes growth of cardiomyocytes, but not cardiomyocyte proliferation. Promotes cardiac muscle hypertrophy. NA Belongs to the myotrophin family. NA PE1 7 +NX_P58549 FXYD domain-containing ion transport regulator 7 80 8524 8.5 1 Membrane NA NA NA Belongs to the FXYD family. Ion transport by P-type ATPases;Ion homeostasis PE1 19 +NX_P58550 Putative FXYD domain-containing ion transport regulator 8 94 10590 6.81 1 Membrane NA NA NA Belongs to the FXYD family. NA PE5 X +NX_P58557 Endoribonuclease YbeY 167 19298 7.06 0 Nucleoplasm;Nucleus NA Single strand-specific metallo-endoribonuclease involved in rRNA maturation. NA Belongs to the endoribonuclease YbeY family. NA PE1 21 +NX_P58658 Protein eva-1 homolog C 441 49483 6.52 1 Membrane NA Binds heparin. NA Belongs to the EVA1 family. NA PE1 21 +NX_P58743 Prestin 744 81264 5.91 12 Cell membrane Deafness, autosomal recessive, 61 Motor protein that converts auditory stimuli to length changes in outer hair cells and mediates sound amplification in the mammalian hearing organ. Prestin is a bidirectional voltage-to-force converter, it can operate at microsecond rates. It uses cytoplasmic anions as extrinsic voltage sensors, probably chloride and bicarbonate. After binding to a site with millimolar affinity, these anions are translocated across the membrane in response to changes in the transmembrane voltage. They move towards the extracellular surface following hyperpolarization, and towards the cytoplasmic side in response to depolarization. As a consequence, this translocation triggers conformational changes in the protein that ultimately alter its surface area in the plane of the plasma membrane. The area decreases when the anion is near the cytoplasmic face of the membrane (short state), and increases when the ion has crossed the membrane to the outer surface (long state). So, it acts as an incomplete transporter. It swings anions across the membrane, but does not allow these anions to dissociate and escape to the extracellular space. Salicylate, an inhibitor of outer hair cell motility, acts as competitive antagonist at the prestin anion-binding site (By similarity). NA Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. NA PE2 7 +NX_P58753 Toll/interleukin-1 receptor domain-containing adapter protein 221 23883 7.56 0 Cytoplasm;Cell membrane;Membrane;Nucleoplasm;Cytosol;Cytoskeleton NA Adapter involved in TLR2 and TLR4 signaling pathways in the innate immune response. Acts via IRAK2 and TRAF-6, leading to the activation of NF-kappa-B, MAPK1, MAPK3 and JNK, and resulting in cytokine secretion and the inflammatory response. Positively regulates the production of TNF-alpha and interleukin-6. Phosphorylated by IRAK1 and IRAK4. Also phosphorylated by BTK.;Polyubiquitinated. Polyubiquitination follows phosphorylation by BTK and leads to TIRAP degradation. NA Toll-like receptor signaling pathway;Pertussis;Tuberculosis;ER-Phagosome pathway;MyD88:MAL(TIRAP) cascade initiated on plasma membrane;MyD88 deficiency (TLR2/4);IRAK4 deficiency (TLR2/4) PE1 11 +NX_P58872 Rhomboid-related protein 3 404 45245 7.25 7 Membrane NA May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. NA Belongs to the peptidase S54 family. NA PE1 17 +NX_P58876 Histone H2B type 1-D 126 13936 10.31 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. ADP-ribosylated on Ser-7 in response to DNA damage.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons.;Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination.;GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes (By similarity). Belongs to the histone H2B family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;G2/M DNA damage checkpoint;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Ub-specific processing proteases;E3 ubiquitin ligases ubiquitinate target proteins;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 6 +NX_P59020 Down syndrome critical region protein 9 149 16743 11.26 0 NA NA NA NA NA NA PE2 21 +NX_P59022 Down syndrome critical region protein 10 87 9286 5.35 0 NA NA NA NA NA NA PE5 21 +NX_P59025 Receptor-transporting protein 1 263 30913 7.99 1 Cell membrane NA Specifically promotes functional cell surface expression of olfactory receptors, but not of other GPCRs. NA Belongs to the TMEM7 family. Olfactory Signaling Pathway PE1 3 +NX_P59036 Putative uncharacterized protein encoded by LINC00310 64 7298 11.56 0 NA NA NA NA NA NA PE5 21 +NX_P59037 Putative uncharacterized protein encoded by LINC00313 77 8510 7.58 0 NA NA NA NA NA NA PE5 21 +NX_P59044 NACHT, LRR and PYD domains-containing protein 6 892 98768 8.43 0 Cytoplasm;Inflammasome;Nucleus membrane;Cell membrane NA As the sensor component of the NLRP6 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP6, PYCARD and CASP1 (and possibly CASP4 and CASP5). Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu. The precise NLRP6 activation stimulus has not been identified yet (By similarity) (PubMed:12387869). Essential for gut mucosal self-renewal and proliferation. Maintains intestinal homeostasis and a healthy intestinal microbiota. This function is, at least partially, mediated by IL18, and not IL1B, produced by nonhematopoietic cells. Influences intestinal barrier function and microbial homeostasis through the regulation of goblet cell mucus secretion. Acts by promoting autophagy in goblet cells, an essential step for mucus granule exocytosis. Its role in goblet cell physiology is inflammasome-dependent, but IL1B- and IL18-independent. During systemic bacterial infections, may negatively regulate inflammatory signaling and inhibit the influx of monocytes and neutrophils to the circulation and to the peritoneum. May promote peripheral nerve recovery following injury via an inflammasome-independent mechanism (By similarity). NA Belongs to the NLRP family. NA PE1 11 +NX_P59045 NACHT, LRR and PYD domains-containing protein 11 1033 117779 7.98 0 Cytosol NA Involved in inflammation. NA Belongs to the NLRP family. NA PE1 19 +NX_P59046 NACHT, LRR and PYD domains-containing protein 12 1061 120173 6.59 0 Cytoplasm;Nucleoplasm;Nucleus speckle Familial cold autoinflammatory syndrome 2 Plays an essential role as an potent mitigator of inflammation (PubMed:30559449). Primarily expressed in dendritic cells and macrophages, inhibits both canonical and non-canonical NF-kappa-B and ERK activation pathways (PubMed:15489334, PubMed:17947705). Functions as a negative regulator of NOD2 by targeting it to degradation via the proteasome pathway (PubMed:30559449). In turn, promotes bacterial tolerance (PubMed:30559449). Inhibits also the DDX58-mediated immune signaling against RNA viruses by reducing the E3 ubiquitin ligase TRIM25-mediated 'Lys-63'-linked DDX58 activation but enhancing the E3 ubiquitin ligase RNF125-mediated 'Lys-48'-linked DDX58 degradation (PubMed:30902577). Acts also as a negative regulator of inflammatory response to mitigate obesity and obesity-associated diseases in adipose tissue (By similarity). NA Belongs to the NLRP family. NA PE1 19 +NX_P59047 NACHT, LRR and PYD domains-containing protein 5 1200 134342 6.08 0 Cytoplasm;Mitochondrion;Nucleolus NA As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions. NA Belongs to the NLRP family. NA PE1 19 +NX_P59051 Putative uncharacterized protein encoded by BRWD1-AS2 145 16132 12.1 0 NA NA NA NA NA NA PE5 21 +NX_P59052 Putative uncharacterized protein B3GALT5-AS1 145 15706 9.21 0 NA NA NA NA NA NA PE5 21 +NX_P59074 Putative charged multivesicular body protein 4B-like protein CHMP4BP1 171 19069 5.17 0 NA NA NA NA Belongs to the SNF7 family. NA PE5 14 +NX_P59090 Putative uncharacterized protein TSPEAR-AS2 65 7097 9.38 0 NA NA NA NA NA NA PE5 21 +NX_P59091 Putative uncharacterized protein encoded by LINC00315 139 15087 9.9 0 NA NA NA NA NA NA PE5 21 +NX_P59095 StAR-related lipid transfer protein 6 220 25022 9.36 0 NA NA May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other sterols (By similarity). NA NA Pregnenolone biosynthesis PE1 18 +NX_P59103 D-amino acid oxidase activator 153 18108 8.73 0 Golgi apparatus Schizophrenia Seems to activate D-amino acid oxidase. NA NA NA PE1 13 +NX_P59190 Ras-related protein Rab-15 212 24391 5.53 0 Cytoplasmic vesicle;Centriolar satellite;Cell membrane NA May act in concert with RAB3A in regulating aspects of synaptic vesicle membrane flow within the nerve terminal. NA Belongs to the small GTPase superfamily. Rab family. RAB geranylgeranylation PE1 14 +NX_P59282 Tubulin polymerization-promoting protein family member 2 170 18503 9.07 0 Cytoplasm NA May bind tubulin but has no microtubule bundling activity. NA Belongs to the TPPP family. NA PE1 14 +NX_P59510 A disintegrin and metalloproteinase with thrombospondin motifs 20 1910 214721 6.98 0 Extracellular matrix NA May play a role in tissue-remodeling process occurring in both normal and pathological conditions. May have a protease-independent function in the transport from the endoplasmic reticulum to the Golgi apparatus of secretory cargos, mediated by the GON domain. The precursor is cleaved by a furin endopeptidase.;Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity). NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE2 12 +NX_P59533 Taste receptor type 2 member 38 333 37892 9.6 7 Membrane NA Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE2 7 +NX_P59534 Taste receptor type 2 member 39 338 38626 9.12 7 Membrane NA Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE2 7 +NX_P59535 Taste receptor type 2 member 40 323 36812 9.95 7 Membrane NA Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE2 7 +NX_P59536 Taste receptor type 2 member 41 307 35896 9.98 7 Membrane NA Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE2 7 +NX_P59537 Taste receptor type 2 member 43 309 35599 10.05 7 Cilium membrane;Membrane NA Gustducin-coupled receptor immplicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. Activated by the sulfonyl amide sweeteners saccharin and acesulfame K. In airway epithelial cells, binding of bitter compounds increases the intracellular calcium ion concentration and stimulates ciliary beat frequency. May act as chemosensory receptors in airway epithelial cells to detect and eliminate potential noxious agents from the airways (By similarity). NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE2 12 +NX_P59538 Taste receptor type 2 member 31 309 35278 10.05 7 Membrane NA Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). Activated by the sulfonyl amide sweeteners saccharin and acesulfame K. NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE2 12 +NX_P59539 Taste receptor type 2 member 45 299 34278 10.06 7 Membrane NA Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE2 12 +NX_P59540 Taste receptor type 2 member 46 309 35523 9.79 7 Membrane;Cilium membrane NA Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). In airway epithelial cells, binding of bitter compounds increases the intracellular calcium ion concentration and stimulates ciliary beat frequency (By similarity). NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE2 12 +NX_P59541 Taste receptor type 2 member 30 319 36874 10.12 7 Membrane NA Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). NA Belongs to the G-protein coupled receptor T2R family. G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE2 12 +NX_P59542 Taste receptor type 2 member 19 299 33908 9.97 7 Membrane NA Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE2 12 +NX_P59543 Taste receptor type 2 member 20 309 35358 10.06 7 Membrane NA Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE2 12 +NX_P59544 Taste receptor type 2 member 50 299 34558 9.83 7 Membrane NA Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE2 12 +NX_P59551 Taste receptor type 2 member 60 318 36337 9.94 7 Membrane NA Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE2 7 +NX_P59646 FXYD domain-containing ion transport regulator 4 89 9373 7.65 1 Membrane NA NA NA Belongs to the FXYD family. Aldosterone-regulated sodium reabsorption;Ion transport by P-type ATPases;Ion homeostasis PE2 10 +NX_P59665 Neutrophil defensin 1 94 10201 6.54 0 Secreted NA Defensin 1 and defensin 2 have antibacterial, fungicide and antiviral activities. Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane. Phosphorylation at Tyr-85 has been found in some cancer cell lines, and interferes with ADP-ribosylation.;ADP-ribosylation drastically reduces cytotoxic and antibacterial activities, and enhances IL8 production. Belongs to the alpha-defensin family. Alpha-defensins;Defensins;Neutrophil degranulation PE1 8 +NX_P59666 Neutrophil defensin 3 94 10245 5.71 0 Secreted NA Defensin 2 and defensin 3 have antibiotic, fungicide and antiviral activities. Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane. NA Belongs to the alpha-defensin family. Alpha-defensins;Defensins PE1 8 +NX_P59768 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 71 7850 7.78 0 Cytoplasmic vesicle;Cell membrane NA Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction (By similarity). NA Belongs to the G protein gamma family. Chemokine signaling pathway;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;G alpha (i) signalling events;G alpha (q) signalling events;G alpha (s) signalling events;G beta:gamma signalling through PI3Kgamma;G alpha (12/13) signalling events;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G-protein activation;ADP signalling through P2Y purinoceptor 12;Prostacyclin signalling through prostacyclin receptor;Adrenaline,noradrenaline inhibits insulin secretion;Ca2+ pathway;G beta:gamma signalling through PLC beta;ADP signalling through P2Y purinoceptor 1;G alpha (z) signalling events;Glucagon-type ligand receptors;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Presynaptic function of Kainate receptors;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling;G beta:gamma signalling through BTK;G beta:gamma signalling through CDC42 PE1 14 +NX_P59773 Major intrinsically disordered NOTCH2-binding receptor 1-like 190 21573 7.86 1 Membrane NA NA NA Belongs to the MINAR family. NA PE2 5 +NX_P59780 AP-3 complex subunit sigma-2 193 22017 5.11 0 Golgi apparatus;Cytoplasmic vesicle membrane NA Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. NA Belongs to the adaptor complexes small subunit family. Lysosome PE1 15 +NX_P59796 Glutathione peroxidase 6 221 24971 6.21 0 Secreted NA NA NA Belongs to the glutathione peroxidase family. Glutathione metabolism;Arachidonic acid metabolism;Detoxification of Reactive Oxygen Species PE2 6 +NX_P59797 Selenoprotein V 346 36800 9.68 0 NA NA May be involved in a redox-related process. NA Belongs to the SelWTH family. NA PE1 19 +NX_P59817 Zinc finger protein 280A 542 60816 9.03 0 Nucleoplasm;Nucleus NA May function as a transcription factor. NA NA NA PE1 22 +NX_P59826 BPI fold-containing family B member 3 476 50342 6.27 0 Cytoplasm;Secreted NA May have the capacity to recognize and bind specific classes of odorants. May act as a carrier molecule, transporting odorants across the mucus layer to access receptor sites. May serve as a primary defense mechanism by recognizing and removing potentially harmful odorants or pathogenic microorganisms from the mucosa or clearing excess odorant from mucus to enable new odorant stimuli to be received (By similarity). NA Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. NA PE1 20 +NX_P59827 BPI fold-containing family B member 4 614 65055 4.95 0 Cytoplasm;Secreted NA May have the capacity to recognize and bind specific classes of odorants. May act as a carrier molecule, transporting odorants across the mucus layer to access receptor sites. May serve as a primary defense mechanism by recognizing and removing potentially harmful odorants or pathogenic microorganisms from the mucosa or clearing excess odorant from mucus to enable new odorant stimuli to be received (By similarity). NA Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. Antimicrobial peptides PE1 20 +NX_P59861 Beta-defensin 131A 70 8199 7.59 0 Secreted NA Has antibacterial activity (Probable). Upon stimulation with lipoteichoic acid, promotes cytokines and chemokines production and secretion (PubMed:26649771). NA Belongs to the beta-defensin family. Beta defensins;Defensins PE1 4 +NX_P59901 Leukocyte immunoglobulin-like receptor subfamily A member 4 499 55165 8.29 1 Cell membrane NA Functions coreceptor to limit the innate immune responses to viral infections; signaling occurs via FCER1G (PubMed:16735691, PubMed:19564354). Down-regulates the production of IFNA1, IFNA2, IFNA4, IFNB1 and TNF by plasmacytoid dendritic cells that have been exposed to influenza virus or cytidine-phosphate-guanosine (CpG) dinucleotides, indicating it functions as negative regulator of TLR7 and TLR9 signaling cascades (PubMed:16735691, PubMed:19564354, PubMed:24586760). Down-regulates interferon production in response to interaction with BST2 on HIV-1 infected cells (PubMed:26172439). Activates a signaling cascade in complex with FCER1G that results in phosphorylation of Src family and Syk kinases and thereby triggers mobilization of intracellular Ca(2+) (PubMed:16735691, PubMed:19564354). Does not interfere with the differentiation of plasmacytoid dendritic cells into antigen-presenting cells (PubMed:24586760). NA NA Osteoclast differentiation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_P59910 DnaJ homolog subfamily B member 13 316 36118 7.68 0 Flagellum;Cell membrane Ciliary dyskinesia, primary, 34 Plays a role in the formation of the central complex of ciliary and flagellar axonemes. NA NA NA PE1 11 +NX_P59922 Putative olfactory receptor 2B8 312 35019 8.89 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 6 +NX_P59923 Zinc finger protein 445 1031 118963 9.5 0 Nucleoplasm;Cytosol;Mitochondrion;Nucleus NA Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation. Acts by controlling DNA methylation during the earliest multicellular stages of development at multiple imprinting control regions (ICRs) (PubMed:30602440). Acts together with ZFP57, but seems to be the major factor in human early embryonic imprinting maintenance. In contrast, in mice, ZFP57 plays the predominant role in imprinting maintenance (PubMed:30602440). NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 3 +NX_P59942 Mitochondrial coiled-coil domain protein 1 119 13259 7.85 0 Mitochondrion NA NA NA NA NA PE2 6 +NX_P59990 Keratin-associated protein 12-1 96 9737 8.22 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 12 family. Keratinization PE1 21 +NX_P59991 Keratin-associated protein 12-2 146 14689 8.17 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 12 family. Keratinization PE1 21 +NX_P59998 Actin-related protein 2/3 complex subunit 4 168 19667 8.53 0 Cell projection;Nucleus;Cytoskeleton NA Actin-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947). NA Belongs to the ARPC4 family. Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Pathogenic Escherichia coli infection;Shigellosis;Salmonella infection;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;EPHB-mediated forward signaling;Clathrin-mediated endocytosis PE1 3 +NX_P60002 Transcription elongation factor 1 homolog 83 9462 8.24 0 Cytosol;Nucleus NA Transcription elongation factor implicated in the maintenance of proper chromatin structure in actively transcribed regions. NA Belongs to the ELOF1 family. NA PE1 19 +NX_P60006 Anaphase-promoting complex subunit 15 121 14281 3.47 0 Cytoplasm;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. In the complex, plays a role in the release of the mitotic checkpoint complex (MCC) from the APC/C: not required for APC/C activity itself, but promotes the turnover of CDC20 and MCC on the APC/C, thereby participating in the responsiveness of the spindle assembly checkpoint. Also required for degradation of CDC20. NA Belongs to the APC15 family. APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;CDK-mediated phosphorylation and removal of Cdc6;Senescence-Associated Secretory Phenotype (SASP);Autodegradation of Cdh1 by Cdh1:APC/C;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of Cyclin B;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;APC/C:Cdc20 mediated degradation of mitotic proteins;Phosphorylation of the APC/C;APC-Cdc20 mediated degradation of Nek2A PE1 11 +NX_P60008 Spermatid-specific linker histone H1-like protein 231 25632 10.95 0 Nucleus;Chromosome NA DNA-binding protein that may be implicated in chromatin remodeling and/or transcriptional regulation during spermiogenesis, the process of spermatid maturation into spermatozoa. NA Belongs to the histone H1/H5 family. NA PE1 17 +NX_P60014 Keratin-associated protein 10-10 251 25571 7.35 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 10 family. Keratinization PE1 21 +NX_P60022 Beta-defensin 1 68 7420 8.96 0 Membrane;Secreted NA Has bactericidal activity. May act as a ligand for C-C chemokine receptor CCR6. Positively regulates the sperm motility and bactericidal activity in a CCR6-dependent manner. Binds to CCR6 and triggers Ca2+ mobilization in the sperm which is important for its motility (PubMed:25122636). NA Belongs to the beta-defensin family. Beta defensins;Defensins PE1 8 +NX_P60033 CD81 antigen 236 25809 5.09 4 Basolateral cell membrane;Cell membrane Immunodeficiency, common variable, 6 (Microbial infection) Specifically required for Plasmodium falciparum infectivity of hepatocytes, controlling sporozoite entry into hepatocytes via the parasitophorous vacuole and subsequent parasite differentiation to exoerythrocytic forms.;(Microbial infection) Involved in SAMHD1-dependent restriction of HIV-1 replication. May support early replication of both R5- and X4-tropic HIV-1 viruses in T cells, likely via proteasome-dependent degradation of SAMHD1.;(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes. Association with CLDN1 and the CLDN1-CD81 receptor complex is essential for HCV entry into host cell.;Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Essential for trafficking and compartmentalization of CD19 receptor on the surface of activated B cells (PubMed:20237408, PubMed:27881302, PubMed:16449649). Upon initial encounter with microbial pathogens, enables the assembly of CD19-CR2/CD21 and B cell receptor (BCR) complexes at signaling TERMs, lowering the threshold dose of antigen required to trigger B cell clonal expansion and antibody production (PubMed:15161911, PubMed:20237408). In T cells, facilitates the localization of CD247/CD3 zeta at antigen-induced synapses with B cells, providing for costimulation and polarization toward T helper type 2 phenotype (PubMed:22307619, PubMed:23858057, PubMed:8766544). Present in MHC class II compartments, may also play a role in antigen presentation (PubMed:8409388, PubMed:8766544). Can act both as positive and negative regulator of homotypic or heterotypic cell-cell fusion processes. Positively regulates sperm-egg fusion and may be involved in acrosome reaction (By similarity). In myoblasts, associates with CD9 and PTGFRN and inhibits myotube fusion during muscle regeneration (By similarity). In macrophages, associates with CD9 and beta-1 and beta-2 integrins, and prevents macrophage fusion into multinucleated giant cells specialized in ingesting complement-opsonized large particles (PubMed:12796480). Also prevents the fusion of mononuclear cell progenitors into osteoclasts in charge of bone resorption (By similarity). May regulate the compartmentalization of enzymatic activities. In T cells, defines the subcellular localization of dNTPase SAMHD1 and permits its degradation by the proteasome, thereby controlling intracellular dNTP levels (PubMed:28871089). Also involved in cell adhesion and motility. Positively regulates integrin-mediated adhesion of macrophages, particularly relevant for the inflammatory response in the lung (By similarity). Not glycosylated.;Likely constitutively palmitoylated at low levels. Protein palmitoylation is up-regulated upon coligation of BCR and CD9-C2R-CD81 complexes in lipid rafts. Belongs to the tetraspanin (TM4SF) family. B cell receptor signaling pathway;Malaria;Hepatitis C;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of Complement cascade PE1 11 +NX_P60059 Protein transport protein Sec61 subunit gamma 68 7741 10.01 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across endoplasmic reticulum (ER). NA Belongs to the SecE/SEC61-gamma family. Protein export;Protein processing in endoplasmic reticulum;Phagosome;Vibrio cholerae infection;ER-Phagosome pathway;SRP-dependent cotranslational protein targeting to membrane;Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 7 +NX_P60153 Inactive ribonuclease-like protein 9 205 24307 6.18 0 Secreted NA Does not exhibit any ribonuclease activity. NA Belongs to the pancreatic ribonuclease family. NA PE1 14 +NX_P60174 Triosephosphate isomerase 286 30791 5.65 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle Triosephosphate isomerase deficiency It is also responsible for the non-negligible production of methylglyoxal a reactive cytotoxic side-product that modifies and can alter proteins, DNA and lipids.;Triosephosphate isomerase is an extremely efficient metabolic enzyme that catalyzes the interconversion between dihydroxyacetone phosphate (DHAP) and D-glyceraldehyde-3-phosphate (G3P) in glycolysis and gluconeogenesis. The initiator methionine for isoform 2 is removed.;TPI1 is phosphorylated by MAPK3 Belongs to the triosephosphate isomerase family. Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate from glycerone phosphate: step 1/1.;Carbohydrate biosynthesis; gluconeogenesis.;Glycolysis / Gluconeogenesis;Fructose and mannose metabolism;Inositol phosphate metabolism;Metabolic pathways;Glycolysis;Gluconeogenesis PE1 12 +NX_P60201 Myelin proteolipid protein 277 30077 8.71 4 Myelin membrane;Cell membrane Leukodystrophy, hypomyelinating, 1;Spastic paraplegia 2, X-linked This is the major myelin protein from the central nervous system. It plays an important role in the formation or maintenance of the multilamellar structure of myelin. NA Belongs to the myelin proteolipid protein family. NA PE1 X +NX_P60228 Eukaryotic translation initiation factor 3 subunit E 445 52221 5.71 0 Cytoplasm;Cytosol;PML body NA Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). Required for nonsense-mediated mRNA decay (NMD); may act in conjunction with UPF2 to divert mRNAs from translation to the NMD pathway (PubMed:17468741). May interact with MCM7 and EPAS1 and regulate the proteasome-mediated degradation of these proteins (PubMed:17310990, PubMed:17324924). NA Belongs to the eIF-3 subunit E family. RNA transport;Hepatitis C;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit PE1 8 +NX_P60321 Nanos homolog 2 138 15132 9.02 0 Cytoplasm;P-body;Perinuclear region NA Plays a key role in the sexual differentiation of germ cells by promoting the male fate but suppressing the female fate. Represses the female fate pathways by suppressing meiosis, which in turn results in the promotion of the male fate. Maintains the suppression of meiosis by preventing STRA8 expression, which is required for premeiotic DNA replication, after CYP26B1 is decreased. Regulates the localization of the CCR4-NOT deadenylation complex to P-bodies and plays a role in recruiting the complex to trigger the degradation of mRNAs involved in meiosis. Required for the maintenance of the spermatogonial stem cell population. Not essential for the assembly of P-bodies but is required for the maintenance of their normal state (By similarity). NA Belongs to the nanos family. NA PE1 19 +NX_P60323 Nanos homolog 3 173 18844 9.17 0 Golgi apparatus;Cytoplasm;Stress granule;Nucleolus;P-body;Nucleus NA Plays a role in the maintenance of the undifferentiated state of germ cells regulating the spermatogonia cell cycle and inducing a prolonged transit in G1 phase. Affects cell proliferation probably by repressing translation of specific mRNAs. Maintains the germ cell lineage by suppressing both Bax-dependent and -independent apoptotic pathways. Essential in the early stage embryo to protect the migrating primordial germ cells (PGCs) from apoptosis. NA Belongs to the nanos family. NA PE1 19 +NX_P60328 Keratin-associated protein 12-3 96 9947 8.02 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 12 family. Keratinization PE1 21 +NX_P60329 Keratin-associated protein 12-4 112 11433 7.68 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 12 family. Keratinization PE1 21 +NX_P60331 Keratin-associated protein 10-1 282 28660 7.77 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 10 family. Keratinization PE2 21 +NX_P60368 Keratin-associated protein 10-2 255 25616 7.52 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 10 family. Keratinization PE2 21 +NX_P60369 Keratin-associated protein 10-3 221 22348 7.99 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 10 family. Keratinization PE2 21 +NX_P60370 Keratin-associated protein 10-5 271 27626 7.5 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 10 family. Keratinization PE1 21 +NX_P60371 Keratin-associated protein 10-6 365 36791 6 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 10 family. Keratinization PE2 21 +NX_P60372 Keratin-associated protein 10-4 401 40429 7.12 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 10 family. Keratinization PE1 21 +NX_P60409 Keratin-associated protein 10-7 370 37372 7.38 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 10 family. Keratinization PE1 21 +NX_P60410 Keratin-associated protein 10-8 259 26299 7.82 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 10 family. Keratinization PE1 21 +NX_P60411 Keratin-associated protein 10-9 292 30037 7.87 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 10 family. Keratinization PE1 21 +NX_P60412 Keratin-associated protein 10-11 298 30243 7.93 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 10 family. Keratinization PE1 21 +NX_P60413 Keratin-associated protein 10-12 245 25107 7.94 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 10 family. Keratinization PE1 21 +NX_P60468 Protein transport protein Sec61 subunit beta 96 9974 11.57 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across endoplasmic reticulum (ER) (By similarity). Required for PKD1/Polycystin-1 biogenesis (By similarity). NA Belongs to the SEC61-beta family. Protein export;Protein processing in endoplasmic reticulum;Phagosome;Vibrio cholerae infection;ER-Phagosome pathway;SRP-dependent cotranslational protein targeting to membrane;Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 9 +NX_P60484 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 403 47166 5.94 0 Cytoplasm;Secreted;Nucleoplasm;PML body;Cytosol;Nucleus Macrocephaly/autism syndrome;Prostate cancer;Endometrial cancer;Squamous cell carcinoma of the head and neck;Lhermitte-Duclos disease;Cowden syndrome 1;Glioma 2 Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins. Also acts as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring from phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-diphosphate, phosphatidylinositol 3-phosphate and inositol 1,3,4,5-tetrakisphosphate with order of substrate preference in vitro PtdIns(3,4,5)P3 > PtdIns(3,4)P2 > PtdIns3P > Ins(1,3,4,5)P4 (PubMed:26504226, PubMed:16824732). The lipid phosphatase activity is critical for its tumor suppressor function. Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival. The unphosphorylated form cooperates with AIP1 to suppress AKT1 activation. Dephosphorylates tyrosine-phosphorylated focal adhesion kinase and inhibits cell migration and integrin-mediated cell spreading and focal adhesion formation. Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. May be a negative regulator of insulin signaling and glucose metabolism in adipose tissue. The nuclear monoubiquitinated form possesses greater apoptotic potential, whereas the cytoplasmic nonubiquitinated form induces less tumor suppressive ability. In motile cells, suppresses the formation of lateral pseudopods and thereby promotes cell polarization and directed movement.;Functional kinase, like isoform 1 it antagonizes the PI3K-AKT/PKB signaling pathway. Plays a role in mitochondrial energetic metabolism by promoting COX activity and ATP production, via collaboration with isoform 1 in increasing protein levels of PINK1. Monoubiquitinated; monoubiquitination is increased in presence of retinoic acid. Deubiquitinated by USP7; leading to its nuclear exclusion. Monoubiquitination of one of either Lys-13 and Lys-289 amino acid is sufficient to modulate PTEN compartmentalization. Ubiquitinated by XIAP/BIRC4.;Constitutively phosphorylated by CK2 under normal conditions. Phosphorylated in vitro by MAST1, MAST2, MAST3 and STK11. Phosphorylation results in an inhibited activity towards PIP3. Phosphorylation can both inhibit or promote PDZ-binding. Phosphorylation at Tyr-336 by FRK/PTK5 protects this protein from ubiquitin-mediated degradation probably by inhibiting its binding to NEDD4. Phosphorylation by ROCK1 is essential for its stability and activity. Phosphorylation by PLK3 promotes its stability and prevents its degradation by the proteasome.;PTEN is phosphorylated by MAST3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);PTEN is phosphorylated by MAST1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);PTEN is phosphorylated by MAST2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the PTEN phosphatase protein family. Inositol phosphate metabolism;Phosphatidylinositol signaling system;p53 signaling pathway;Focal adhesion;Tight junction;Pathways in cancer;Endometrial cancer;Glioma;Prostate cancer;Melanoma;Small cell lung cancer;Synthesis of PIPs at the plasma membrane;Downstream TCR signaling;TP53 Regulates Metabolic Genes;Synthesis of IP3 and IP4 in the cytosol;Negative regulation of the PI3K/AKT network;PTEN Loss of Function in Cancer;Ub-specific processing proteases;Ovarian tumor domain proteases;Regulation of PTEN stability and activity;Regulation of PTEN localization;Regulation of PTEN mRNA translation;Transcriptional Regulation by MECP2 PE1 10 +NX_P60507 Endogenous retrovirus group FC1 Env polyprotein 584 65248 8.56 1 Virion;Cell membrane NA SU mediates receptor recognition.;Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.;TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity). The CXXC motif is highly conserved across a broad range of retroviral envelope proteins. It is thought to participate in the formation of a labile disulfide bond possibly with the CX6CC motif present in the transmembrane protein (By similarity).;Specific enzymatic cleavages in vivo yield the mature SU and TM proteins. Belongs to the gamma type-C retroviral envelope protein family. HERV class-I F(c)1 env subfamily. NA PE1 X +NX_P60508 Syncytin-2 538 59523 9.14 1 Virion;Cell membrane NA This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis. The interaction with MFSD2A is apparently important for this process (PubMed:18988732).;Endogenous envelope proteins may have kept, lost or modified their original function during evolution but this one can still make pseudotypes with MLV, HIV-1 or SIV-1 virions and confer infectivity. Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. The surface protein mediates receptor recognition, while the transmembrane protein anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (PubMed:14694139). The CXXC motif is highly conserved across a broad range of retroviral envelope proteins. It is thought to participate in the formation of a labile disulfide bond possibly with the CX6CC motif present in the transmembrane protein. Isomerization of the intersubunit disulfide bond to an SU intrachain disulfide bond is thought to occur upon receptor recognition in order to allow membrane fusion (By similarity).;Specific enzymatic cleavages in vivo yield the mature SU and TM proteins. Belongs to the gamma type-C retroviral envelope protein family. HERV class-I FRD env subfamily. NA PE1 6 +NX_P60509 Endogenous retrovirus group PABLB member 1 Env polyprotein 514 58521 7.61 1 Cell membrane NA Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties. The CXXC motif is highly conserved across a broad range of retroviral envelope proteins. It is thought to participate in the formation of a labile disulfide bond possibly with the CX6CC motif present in the transmembrane domain (By similarity). Belongs to the gamma type-C retroviral envelope protein family. HERV class-I R(b) env subfamily. NA PE2 3 +NX_P60510 Serine/threonine-protein phosphatase 4 catalytic subunit 307 35080 4.91 0 Cytoplasm;Cell membrane;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Protein phosphatase that is involved in many processes such as microtubule organization at centrosomes, maturation of spliceosomal snRNPs, apoptosis, DNA repair, tumor necrosis factor (TNF)-alpha signaling, activation of c-Jun N-terminal kinase MAPK8, regulation of histone acetylation, DNA damage checkpoint signaling, NF-kappa-B activation and cell migration. The PPP4C-PPP4R1 PP4 complex may play a role in dephosphorylation and regulation of HDAC3. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AFX phosphorylated on Ser-140 (gamma-H2AFX) generated during DNA replication and required for DNA double strand break repair. Dephosphorylates NDEL1 at CDK1 phosphorylation sites and negatively regulates CDK1 activity in interphase (By similarity). In response to DNA damage, catalyzes RPA2 dephosphorylation, an essential step for DNA repair since it allows the efficient RPA2-mediated recruitment of RAD51 to chromatin. Methylation at the C-terminal Leu-307 is critical for interactions with regulatory subunits and functions in DNA repair. Belongs to the PPP phosphatase family. PP-4 (PP-X) subfamily. Processing of DNA double-strand break ends PE1 16 +NX_P60520 Gamma-aminobutyric acid receptor-associated protein-like 2 117 13667 7.81 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Autophagosome;Cytosol;Nucleus NA Ubiquitin-like modifier involved in intra-Golgi traffic. Modulates intra-Golgi transport through coupling between NSF activity and SNAREs activation. It first stimulates the ATPase activity of NSF which in turn stimulates the association with GOSR1 (By similarity). Involved in autophagy. Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation. The precursor molecule is cleaved by ATG4B to form the cytosolic form, GABARAPL2-I. This is activated by APG7L/ATG7, transferred to ATG3 and conjugated to phospholipid to form the membrane-bound form, GABARAPL2-II. ATG4B also mediates the delipidation required for GABARAPL1 recycling when autophagosomes fuse with lysosomes.;The Legionella effector RavZ is a deconjugating enzyme that produces an ATG8 product that would be resistant to reconjugation by the host machinery due to the cleavage of the reactive C-terminal glycine. Belongs to the ATG8 family. Regulation of autophagy;GABAergic synapse;Macroautophagy;TBC/RABGAPs PE1 16 +NX_P60568 Interleukin-2 153 17628 7.67 0 Secreted NA Produced by T-cells in response to antigenic or mitogenic stimulation, this protein is required for T-cell proliferation and other activities crucial to regulation of the immune response. Can stimulate B-cells, monocytes, lymphokine-activated killer cells, natural killer cells, and glioma cells. NA Belongs to the IL-2 family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;T cell receptor signaling pathway;Intestinal immune network for IgA production;Type I diabetes mellitus;Chagas disease (American trypanosomiasis);Measles;HTLV-I infection;Autoimmune thyroid disease;Allograft rejection;Graft-versus-host disease;RAF/MAP kinase cascade;Interleukin receptor SHC signaling;RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs);Interleukin-2 signaling PE1 4 +NX_P60602 Reactive oxygen species modulator 1 79 8183 9.58 1 Cytoplasm;Mitochondrion inner membrane NA Has antibacterial activity against a variety of bacteria including S.aureus, P.aeruginosa and M.tuberculosis. Acts by inducing bacterial membrane breakage.;Induces production of reactive oxygen species (ROS) which are necessary for cell proliferation. May play a role in inducing oxidative DNA damage and replicative senescence. May play a role in the coordination of mitochondrial morphology and cell proliferation. NA Belongs to the MGR2 family. NA PE1 20 +NX_P60604 Ubiquitin-conjugating enzyme E2 G2 165 18566 4.62 0 NA NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-linked polyubiquitination. Involved in endoplasmic reticulum-associated degradation (ERAD). NA Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;Parkinson's disease;Antigen processing: Ubiquitination & Proteasome degradation;Synthesis of active ubiquitin: roles of E1 and E2 enzymes PE1 21 +NX_P60606 Cortexin-1 82 9045 5.08 1 Membrane;Nucleoplasm;Cell junction;Cell membrane NA May mediate extracellular or intracellular signaling of cortical neurons during forebrain development. NA Belongs to the cortexin family. NA PE2 19 +NX_P60608 Endogenous retrovirus group FC1 member 1 Env polyprotein 527 58319 8.65 0 Virion NA Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties. The CXXC motif is highly conserved across a broad range of retroviral envelope proteins. It is thought to participate in the formation of a labile disulfide bond possibly with the CX6CC motif present in the transmembrane domain (By similarity). Belongs to the gamma type-C retroviral envelope protein family. HERV class-I F(c)2 env subfamily. NA PE1 7 +NX_P60660 Myosin light polypeptide 6 151 16930 4.56 0 NA NA Regulatory light chain of myosin. Does not bind calcium. NA NA Vascular smooth muscle contraction;EPHA-mediated growth cone collapse;Smooth Muscle Contraction;RHO GTPases activate PKNs;Sema4D induced cell migration and growth-cone collapse;RHO GTPases activate CIT;RHO GTPases activate PAKs;RHO GTPases Activate ROCKs PE1 12 +NX_P60673 Profilin-3 137 14596 9.49 0 Nucleus;Cytoskeleton NA Binds to actin and affects the structure of the cytoskeleton. Slightly reduces actin polymerization. Binds to poly-L-proline, phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 4-phosphate (PtdIns(4)P). May be involved in spermatogenesis. NA Belongs to the profilin family. Regulation of actin cytoskeleton;Shigellosis;Salmonella infection PE1 5 +NX_P60709 Actin, cytoplasmic 1 375 41737 5.29 0 Nucleus;Cytoskeleton Baraitser-Winter syndrome 1;Dystonia, juvenile-onset Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells (PubMed:29581253). Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction (PubMed:29581253). In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localize in the nucleus, and regulate gene transcription and motility and repair of damaged DNA (PubMed:29925947). Actin, cytoplasmic 1, N-terminally processed: N-terminal acetylation by NAA80 affects actin filament depolymerization and elongation, including elongation driven by formins (PubMed:29581253). In contrast, filament nucleation by the Arp2/3 complex is not affected (PubMed:29581253).;Oxidation of Met-44 and Met-47 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promote actin repolymerization.;ISGylated.;Monomethylation at Lys-84 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes (PubMed:23673617). Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration (PubMed:23673617).;Methylated at His-73 by SETD3 (PubMed:30526847, PubMed:30626964, PubMed:30785395). Methylation at His-73 is required for smooth muscle contraction of the laboring uterus during delivery (By similarity).;(Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-50 of one monomer and Glu-270 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148). Belongs to the actin family. Phagosome;Focal adhesion;Adherens junction;Tight junction;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Gastric acid secretion;Bacterial invasion of epithelial cells;Vibrio cholerae infection;Pathogenic Escherichia coli infection;Shigellosis;Salmonella infection;Influenza A;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Viral myocarditis;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Factors involved in megakaryocyte development and platelet production;HATs acetylate histones;RHO GTPases Activate Formins;EPHB-mediated forward signaling;EPH-ephrin mediated repulsion of cells;VEGFA-VEGFR2 Pathway;Prefoldin mediated transfer of substrate to CCT/TriC;Folding of actin by CCT/TriC;Interaction between L1 and Ankyrins;Recycling pathway of L1;MAP2K and MAPK activation;Adherens junctions interactions;Gap junction degradation;RHO GTPases activate IQGAPs;Formation of annular gap junctions;Cell-extracellular matrix interactions;DNA Damage Recognition in GG-NER;B-WICH complex positively regulates rRNA expression;UCH proteinases;Clathrin-mediated endocytosis;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 7 +NX_P60763 Ras-related C3 botulinum toxin substrate 3 192 21379 8.43 0 Cytoplasm;Cell membrane;Endomembrane system;Lamellipodium;Perinuclear region;Cytoskeleton NA Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as cell spreading and the formation of actin-based protusions including lamellipodia and membrane ruffles. Promotes cell adhesion and spreading on fibrinogen in a CIB1 and alpha-IIb/beta3 integrin-mediated manner. (Microbial infection) Glycosylated at Tyr-32 by Photorhabdus asymbiotica toxin PAU_02230. Mono-O-GlcNAcylation by PAU_02230 inhibits downstream signaling by an impaired interaction with diverse regulator and effector proteins of Rac and leads to actin disassembly. Belongs to the small GTPase superfamily. Rho family. MAPK signaling pathway;Wnt signaling pathway;Axon guidance;VEGF signaling pathway;Focal adhesion;Adherens junction;Natural killer cell mediated cytotoxicity;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Colorectal cancer;Pancreatic cancer;Viral myocarditis;Rho GTPase cycle;PCP/CE pathway PE1 17 +NX_P60827 Complement C1q tumor necrosis factor-related protein 8 252 27685 9.7 0 Secreted NA May play a role as ligand of RXFP1. Not N-glycosylated. NA NA PE1 16 +NX_P60842 Eukaryotic initiation factor 4A-I 406 46154 5.32 0 Cytoplasm;Nucleus NA ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon. NA Belongs to the DEAD box helicase family. eIF4A subfamily. RNA transport;ISG15 antiviral mechanism;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Deadenylation of mRNA;Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S PE1 17 +NX_P60852 Zona pellucida sperm-binding protein 1 638 70049 6.63 1 Extracellular matrix;Cell membrane Oocyte maturation defect 1 Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy. The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP1 ensures the structural integrity of the zona pellucida. Proteolytically cleaved before the transmembrane segment to yield the secreted ectodomain incorporated in the zona pellucida.;O-glycosylated. Belongs to the ZP domain family. ZPB subfamily. Interaction With Cumulus Cells And The Zona Pellucida PE1 11 +NX_P60866 40S ribosomal protein S20 119 13373 9.95 0 Endoplasmic reticulum;Cytoplasm;Cytosol NA NA Monoubiquitinated by ZNF598 when a ribosome has stalled during translation of poly(A) sequences, leading to preclude synthesis of a long poly-lysine tail and initiate the ribosome quality control (RQC) pathway to degrade the potentially detrimental aberrant nascent polypeptide (PubMed:28065601, PubMed:28132843). Belongs to the universal ribosomal protein uS10 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 8 +NX_P60880 Synaptosomal-associated protein 25 206 23315 4.66 0 Cell membrane;Photoreceptor inner segment;Synaptosome;Cytoplasmic vesicle;Cytosol;Perinuclear region Myasthenic syndrome, congenital, 18 T-SNARE involved in the molecular regulation of neurotransmitter release. May play an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion. Regulates plasma membrane recycling through its interaction with CENPF. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 in pancreatic beta cells. (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type E (BoNT/E) which hydrolyzes the 180-Arg-|-Ile-181 bond and inhibits neurotransmitter release (PubMed:9886085).;(Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type C (BoNT/C) which hydrolyzes the 198-Arg-|-Ala-199 bond and inhibits neurotransmitter release (PubMed:9886085, PubMed:17718519). C.botulinum type C only rarely infects humans.;Palmitoylated (PubMed:28757145). Cys-85 appears to be the main site, and palmitoylation is required for membrane association (By similarity).;(Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type A (BoNT/A, botA) which hydrolyzes the 197-Gln-|-Arg-198 bond and inhibits neurotransmitter release (PubMed:15592454, PubMed:9886085). Belongs to the SNAP-25 family. SNARE interactions in vesicular transport;Synaptic vesicle cycle;Acetylcholine Neurotransmitter Release Cycle;GABA synthesis, release, reuptake and degradation;Glutamate Neurotransmitter Release Cycle;Norepinephrine Neurotransmitter Release Cycle;Regulation of insulin secretion;Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle;Toxicity of botulinum toxin type A (BoNT/A);Toxicity of botulinum toxin type C (BoNT/C);Toxicity of botulinum toxin type E (BoNT/E);Neutrophil degranulation;Other interleukin signaling PE1 20 +NX_P60891 Ribose-phosphate pyrophosphokinase 1 318 34834 6.51 0 NA ARTS syndrome;Phosphoribosylpyrophosphate synthetase superactivity;Charcot-Marie-Tooth disease, X-linked recessive, 5;Deafness, X-linked, 1 Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis. NA Belongs to the ribose-phosphate pyrophosphokinase family. Metabolic intermediate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate from D-ribose 5-phosphate (route I): step 1/1.;Pentose phosphate pathway;Purine metabolism;Metabolic pathways;5-Phosphoribose 1-diphosphate biosynthesis PE1 X +NX_P60893 Probable G-protein coupled receptor 85 370 41995 9.75 7 Endoplasmic reticulum;Golgi apparatus;Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 7 +NX_P60896 26S proteasome complex subunit SEM1 70 8278 3.81 0 Cytoplasm;Cytosol;Nucleus NA Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair (PubMed:15117943). Component of the TREX-2 complex (transcription and export complex 2), composed of at least ENY2, GANP, PCID2, SEM1, and either centrin CETN2 or CETN3 (PubMed:22307388). The TREX-2 complex functions in docking export-competent ribonucleoprotein particles (mRNPs) to the nuclear entrance of the nuclear pore complex (nuclear basket). TREX-2 participates in mRNA export and accurate chromatin positioning in the nucleus by tethering genes to the nuclear periphery. Binds and stabilizes BRCA2 and is thus involved in the control of R-loop-associated DNA damage and thus transcription-associated genomic instability. R-loop accumulation increases in SEM1-depleted cells. NA Belongs to the DSS1/SEM1 family. Proteasome;Homologous recombination;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 7 +NX_P60900 Proteasome subunit alpha type-6 246 27399 6.35 0 Cytoplasm;Nucleoplasm;Nucleus NA Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). NA Belongs to the peptidase T1A family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 14 +NX_P60903 Protein S100-A10 97 11203 6.82 0 Cytoplasm;Mitochondrion NA Because S100A10 induces the dimerization of ANXA2/p36, it may function as a regulator of protein phosphorylation in that the ANXA2 monomer is the preferred target (in vitro) of tyrosine-specific kinase. NA Belongs to the S-100 family. Dissolution of Fibrin Clot PE1 1 +NX_P60953 Cell division control protein 42 homolog 191 21259 6.16 0 Cell membrane;Centrosome;Spindle;Dendrite;Midbody;Cytoskeleton Takenouchi-Kosaki syndrome Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. Regulates the bipolar attachment of spindle microtubules to kinetochores before chromosome congression in metaphase (PubMed:15642749). Regulates cell migration (PubMed:17038317). In neurons, plays a role in the extension and maintenance of the formation of filopodia, thin and actin-rich surface projections (PubMed:14978216). Required for DOCK10-mediated spine formation in Purkinje cells and hippocampal neurons. Facilitates filopodia formation upon DOCK11-activation (By similarity). Upon activation by CaMKII, modulates dendritic spine structural plasticity by relaying CaMKII transient activation to synapse-specific, long-term signaling (By similarity). Also plays a role in phagocytosis through organization of the F-actin cytoskeleton associated with forming phagocytic cups (PubMed:26465210). (Microbial infection) AMPylation at Tyr-32 and Thr-35 are mediated by bacterial enzymes in case of infection by H.somnus and V.parahaemolyticus, respectively. AMPylation occurs in the effector region and leads to inactivation of the GTPase activity by preventing the interaction with downstream effectors, thereby inhibiting actin assembly in infected cells. It is unclear whether some human enzyme mediates AMPylation; FICD has such ability in vitro but additional experiments remain to be done to confirm results in vivo.;Phosphorylated by SRC in an EGF-dependent manner, this stimulates the binding of the Rho-GDP dissociation inhibitor RhoGDI.;(Microbial infection) Glycosylated at Tyr-32 by Photorhabdus asymbiotica toxin PAU_02230. Mono-O-GlcNAcylation by PAU_02230 inhibits downstream signaling by an impaired interaction with diverse regulator and effector proteins of CDC42 and leads to actin disassembly.;CDC42 is phosphorylated by NEK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the small GTPase superfamily. Rho family. CDC42 subfamily. MAPK signaling pathway;Chemokine signaling pathway;Endocytosis;Axon guidance;VEGF signaling pathway;Focal adhesion;Adherens junction;Tight junction;T cell receptor signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Regulation of actin cytoskeleton;GnRH signaling pathway;Bacterial invasion of epithelial cells;Epithelial cell signaling in Helicobacter pylori infection;Pathogenic Escherichia coli infection;Shigellosis;Salmonella infection;Pathways in cancer;Renal cell carcinoma;Pancreatic cancer;MAPK6/MAPK4 signaling;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;Factors involved in megakaryocyte development and platelet production;RHO GTPases Activate Formins;GPVI-mediated activation cascade;EPHB-mediated forward signaling;Rho GTPase cycle;VEGFA-VEGFR2 Pathway;EGFR downregulation;CD28 dependent Vav1 pathway;DCC mediated attractive signaling;RHO GTPases activate IQGAPs;RHO GTPases activate PAKs;RHO GTPases activate KTN1;Inactivation of CDC42 and RAC1;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation;Myogenesis;G beta:gamma signalling through CDC42 PE1 1 +NX_P60981 Destrin 165 18506 8.06 0 NA NA Actin-depolymerizing protein. Severs actin filaments (F-actin) and binds to actin monomers (G-actin). Acts in a pH-independent manner. ISGylated. Belongs to the actin-binding proteins ADF family. NA PE1 20 +NX_P60983 Glia maturation factor beta 142 16713 5.19 0 NA NA This protein causes differentiation of brain cells, stimulation of neural regeneration, and inhibition of proliferation of tumor cells. Phosphorylated; stimulated by phorbol ester. Belongs to the actin-binding proteins ADF family. GMF subfamily. NA PE1 14 +NX_P60985 Keratinocyte differentiation-associated protein 99 11050 6.72 0 Secreted NA May act as a soluble regulator of keratinocyte differentiation. May play an important role in embryonic skin morphogenesis. NA NA NA PE1 19 +NX_P61006 Ras-related protein Rab-8A 207 23668 9.15 0 Cytoplasm;Golgi apparatus;Cell membrane;Centriole;Phagosome membrane;Cilium;Cilium basal body;Nucleoplasm;Phagosome;Cilium axoneme;Recycling endosome membrane;Midbody NA The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in polarized vesicular trafficking and neurotransmitter release. Together with RAB11A, RAB3IP, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis (PubMed:20890297). Together with MYO5B and RAB11A participates in epithelial cell polarization (PubMed:21282656). May be involved in ciliogenesis (PubMed:21844891, PubMed:30398148). Together with MICALL2, may also regulate adherens junction assembly (By similarity). May play a role in insulin-induced transport to the plasma membrane of the glucose transporter GLUT4 and therefore play a role in glucose homeostasis (By similarity). Involved in autophagy (PubMed:27103069). Phosphorylation of Thr-72 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitors GDI1 and GDI2. Belongs to the small GTPase superfamily. Rab family. Pancreatic secretion;Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Translocation of SLC2A4 (GLUT4) to the plasma membrane;VxPx cargo-targeting to cilium;RAB GEFs exchange GTP for GDP on RABs;TBC/RABGAPs;RAB geranylgeranylation PE1 19 +NX_P61009 Signal peptidase complex subunit 3 180 20313 8.66 1 Microsome membrane;Endoplasmic reticulum;Endoplasmic reticulum membrane NA Component of the microsomal signal peptidase complex which removes signal peptides and other N-terminal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.;(Microbial infection) Plays an important role in virion production of flaviviruses such as West Nile virus, Japanese enchephalitis virus, Dengue virus type 2 and Yellow Fever virus. NA Belongs to the SPCS3 family. Protein export;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP);SRP-dependent cotranslational protein targeting to membrane;Synthesis, secretion, and deacylation of Ghrelin PE1 4 +NX_P61011 Signal recognition particle 54 kDa protein 504 55705 8.87 0 Cytoplasm;Cytosol;Nucleus speckle;Nucleolus NA Binds to the signal sequence of presecretory protein when they emerge from the ribosomes and transfers them to TRAM (translocating chain-associating membrane protein). NA Belongs to the GTP-binding SRP family. SRP54 subfamily. Protein export;SRP-dependent cotranslational protein targeting to membrane PE1 14 +NX_P61018 Ras-related protein Rab-4B 213 23587 5.8 0 Cell membrane NA Protein transport. Probably involved in vesicular traffic (By similarity). NA Belongs to the small GTPase superfamily. Rab family. Neutrophil degranulation;MET receptor recycling;RAB geranylgeranylation PE1 19 +NX_P61019 Ras-related protein Rab-2A 212 23546 6.08 0 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane;Melanosome;Golgi apparatus membrane NA Required for protein transport from the endoplasmic reticulum to the Golgi complex. NA Belongs to the small GTPase superfamily. Rab family. Golgi Cisternae Pericentriolar Stack Reorganization;RAB geranylgeranylation PE1 8 +NX_P61020 Ras-related protein Rab-5B 215 23707 8.29 0 Cytoplasm;Cell membrane;Melanosome;Early endosome membrane;Cytoplasmic vesicle;Nucleus NA Protein transport. Probably involved in vesicular traffic (By similarity). Phosphorylation of Ser-84 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitors GDI1 and GDI2. Belongs to the small GTPase superfamily. Rab family. Endocytosis;Phagosome;Vasopressin-regulated water reabsorption;Amoebiasis;Tuberculosis;Clathrin-mediated endocytosis;Neutrophil degranulation;RAB GEFs exchange GTP for GDP on RABs;TBC/RABGAPs;RAB geranylgeranylation PE1 12 +NX_P61024 Cyclin-dependent kinases regulatory subunit 1 79 9660 8.89 0 NA NA Binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. NA Belongs to the CKS family. Pathways in cancer;Small cell lung cancer;SCF(Skp2)-mediated degradation of p27/p21;Cyclin D associated events in G1 PE1 1 +NX_P61026 Ras-related protein Rab-10 200 22541 8.58 0 Endoplasmic reticulum membrane;Endosome membrane;Phagosome membrane;trans-Golgi network membrane;Cilium basal body;Cytoplasmic vesicle membrane;Recycling endosome membrane;Golgi apparatus membrane;Perinuclear region NA The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:21248164). Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:21248164). That Rab is mainly involved in the biosynthetic transport of proteins from the Golgi to the plasma membrane (PubMed:21248164). Regulates, for instance, SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane (By similarity). In parallel, it regulates the transport of TLR4, a toll-like receptor to the plasma membrane and therefore may be important for innate immune response (By similarity). Plays also a specific role in asymmetric protein transport to the plasma membrane (PubMed:16641372). In neurons, it is involved in axonogenesis through regulation of vesicular membrane trafficking toward the axonal plasma membrane (By similarity). In epithelial cells, it regulates transport from the Golgi to the basolateral membrane (PubMed:16641372). May play a role in the basolateral recycling pathway and in phagosome maturation (By similarity). May play a role in endoplasmic reticulum dynamics and morphology controlling tubulation along microtubules and tubules fusion (PubMed:23263280). Together with LRRK2, RAB8A, and RILPL1, it regulates ciliogenesis (PubMed:30398148). When phosphorylated by LRRK2 on Thr-73, binds RILPL1 and inhibits ciliogenesis (PubMed:30398148). Phosphorylation of Thr-73 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitors GDI1 and GDI2. Belongs to the small GTPase superfamily. Rab family. Translocation of SLC2A4 (GLUT4) to the plasma membrane;Neutrophil degranulation;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 2 +NX_P61073 C-X-C chemokine receptor type 4 352 39746 8.46 7 Cell membrane;Early endosome;Cell junction;Late endosome;Lysosome WHIM syndrome (Microbial infection) Acts as a coreceptor (CD4 being the primary receptor) for human immunodeficiency virus-1/HIV-1 X4 isolates and as a primary receptor for some HIV-2 isolates. Promotes Env-mediated fusion of the virus (PubMed:8849450, PubMed:8929542, PubMed:9427609, PubMed:10074122, PubMed:10756055).;Receptor for the C-X-C chemokine CXCL12/SDF-1 that transduces a signal by increasing intracellular calcium ion levels and enhancing MAPK1/MAPK3 activation (PubMed:10452968, PubMed:28978524, PubMed:18799424, PubMed:24912431). Involved in the AKT signaling cascade (PubMed:24912431). Plays a role in regulation of cell migration, e.g. During wound healing (PubMed:28978524). Acts as a receptor for extracellular ubiquitin; leading to enhanced intracellular calcium ions and reduced cellular cAMP levels (PubMed:20228059). Binds bacterial lipopolysaccharide (LPS) et mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:11276205). Involved in hematopoiesis and in cardiac ventricular septum formation. Also plays an essential role in vascularization of the gastrointestinal tract, probably by regulating vascular branching and/or remodeling processes in endothelial cells. Involved in cerebellar development. In the CNS, could mediate hippocampal-neuron survival (By similarity). Sulfation on Tyr-21 is required for efficient binding of CXCL12/SDF-1alpha and promotes its dimerization. Tyr-7 and Tyr-12 are sulfated in a sequential manner after Tyr-21 is almost fully sulfated, with the binding affinity for CXCL12/SDF-1alpha increasing with the number of sulfotyrosines present. Sulfotyrosines Tyr-7 and Tyr-12 occupy clefts on opposing CXCL12 subunits, thus bridging the CXCL12 dimer interface and promoting CXCL12 dimerization.;O- and N-glycosylated. Asn-11 is the principal site of N-glycosylation. There appears to be very little or no glycosylation on Asn-176. N-glycosylation masks coreceptor function in both X4 and R5 laboratory-adapted and primary HIV-1 strains through inhibiting interaction with their Env glycoproteins. The O-glycosylation chondroitin sulfate attachment does not affect interaction with CXCL12/SDF-1alpha nor its coreceptor activity.;Ubiquitinated after ligand binding, leading to its degradation (PubMed:28978524). Ubiquitinated by ITCH at the cell membrane on agonist stimulation. The ubiquitin-dependent mechanism, endosomal sorting complex required for transport (ESCRT), then targets CXCR4 for lysosomal degradation. This process is dependent also on prior Ser-/Thr-phosphorylation in the C-terminal of CXCR4. Also binding of ARRB1 to STAM negatively regulates CXCR4 sorting to lysosomes though modulating ubiquitination of SFR5S.;Phosphorylated on agonist stimulation. Rapidly phosphorylated on serine and threonine residues in the C-terminal. Phosphorylation at Ser-324 and Ser-325 leads to recruitment of ITCH, ubiquitination and protein degradation. Belongs to the G-protein coupled receptor 1 family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Endocytosis;Axon guidance;Leukocyte transendothelial migration;Intestinal immune network for IgA production;G alpha (i) signalling events;Chemokine receptors bind chemokines;Signaling by ROBO receptors;Binding and entry of HIV virion PE1 2 +NX_P61077 Ubiquitin-conjugating enzyme E2 D3 147 16687 7.67 0 Endosome membrane;Cell membrane NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'-, as well as 'Lys-48'-linked polyubiquitination. Cooperates with the E2 CDC34 and the SCF(FBXW11) E3 ligase complex for the polyubiquitination of NFKBIA leading to its subsequent proteasomal degradation. Acts as an initiator E2, priming the phosphorylated NFKBIA target at positions 'Lys-21' and/or 'Lys-22' with a monoubiquitin. Ubiquitin chain elongation is then performed by CDC34, building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. Acts also as an initiator E2, in conjunction with RNF8, for the priming of PCNA. Monoubiquitination of PCNA, and its subsequent polyubiquitination, are essential events in the operation of the DNA damage tolerance (DDT) pathway that is activated after DNA damage caused by UV or chemical agents during S-phase. Associates with the BRCA1/BARD1 E3 ligase complex to perform ubiquitination at DNA damage sites following ionizing radiation leading to DNA repair. Targets DAPK3 for ubiquitination which influences promyelocytic leukemia protein nuclear body (PML-NB) formation in the nucleus. In conjunction with the MDM2 and TOPORS E3 ligases, functions ubiquitination of p53/TP53. Supports NRDP1-mediated ubiquitination and degradation of ERBB3 and of BRUCE which triggers apoptosis. In conjunction with the CBL E3 ligase, targets EGFR for polyubiquitination at the plasma membrane as well as during its internalization and transport on endosomes. In conjunction with the STUB1 E3 quality control E3 ligase, ubiquitinates unfolded proteins to catalyze their immediate destruction. Phosphorylated by AURKB. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;Antigen processing: Ubiquitination & Proteasome degradation;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Downregulation of SMAD2/3:SMAD4 transcriptional activity;Signaling by BMP;Negative regulators of DDX58/IFIH1 signaling;IKK complex recruitment mediated by RIP1;E3 ubiquitin ligases ubiquitinate target proteins;Neddylation;TICAM1, RIP1-mediated IKK complex recruitment;Peroxisomal protein import PE1 4 +NX_P61081 NEDD8-conjugating enzyme Ubc12 183 20900 7.57 0 Nucleoplasm;Cytosol;Nucleus NA Accepts the ubiquitin-like protein NEDD8 from the UBA3-NAE1 E1 complex and catalyzes its covalent attachment to other proteins. The specific interaction with the E3 ubiquitin ligase RBX1, but not RBX2, suggests that the RBX1-UBE2M complex neddylates specific target proteins, such as CUL1, CUL2, CUL3 and CUL4. Involved in cell proliferation. The acetylation of Met-1 increases affinity for DCUN1D1 by about 2 orders of magnitude and is crucial for NEDD8 transfer to cullins. Belongs to the ubiquitin-conjugating enzyme family. UBC12 subfamily. Protein modification; protein neddylation.;Ubiquitin mediated proteolysis;Dectin-1 mediated noncanonical NF-kB signaling;NIK-->noncanonical NF-kB signaling;Antigen processing: Ubiquitination & Proteasome degradation;TGF-beta receptor signaling activates SMADs;Neddylation PE1 19 +NX_P61086 Ubiquitin-conjugating enzyme E2 K 200 22407 5.33 0 Cytoplasm;Cytosol;Nucleus;Cytoskeleton NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro, in the presence or in the absence of BRCA1-BARD1 E3 ubiquitin-protein ligase complex, catalyzes the synthesis of 'Lys-48'-linked polyubiquitin chains. Does not transfer ubiquitin directly to but elongates monoubiquitinated substrate protein. Mediates the selective degradation of short-lived and abnormal proteins, such as the endoplasmic reticulum-associated degradation (ERAD) of misfolded lumenal proteins. Ubiquitinates huntingtin. May mediate foam cell formation by the suppression of apoptosis of lipid-bearing macrophages through ubiquitination and subsequence degradation of p53/TP53. Proposed to be involved in ubiquitination and proteolytic processing of NF-kappa-B; in vitro supports ubiquitination of NFKB1. In case of infection by cytomegaloviruses may be involved in the US11-dependent degradation of MHC class I heavy chains following their export from the ER to the cytosol. In case of viral infections may be involved in the HPV E7 protein-dependent degradation of RB1. Sumoylation at Lys-14 impairs catalytic activity. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Negative regulators of DDX58/IFIH1 signaling;Synthesis of active ubiquitin: roles of E1 and E2 enzymes PE1 4 +NX_P61088 Ubiquitin-conjugating enzyme E2 N 152 17138 6.13 0 Cytoplasm;Nucleus NA The UBE2V1-UBE2N and UBE2V2-UBE2N heterodimers catalyze the synthesis of non-canonical 'Lys-63'-linked polyubiquitin chains. This type of polyubiquitination does not lead to protein degradation by the proteasome. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage. Acts together with the E3 ligases, HLTF and SHPRH, in the 'Lys-63'-linked poly-ubiquitination of PCNA upon genotoxic stress, which is required for DNA repair. Appears to act together with E3 ligase RNF5 in the 'Lys-63'-linked polyubiquitination of JKAMP thereby regulating JKAMP function by decreasing its association with components of the proteasome and ERAD. Promotes TRIM5 capsid-specific restriction activity and the UBE2V1-UBE2N heterodimer acts in concert with TRIM5 to generate 'Lys-63'-linked polyubiquitin chains which activate the MAP3K7/TAK1 complex which in turn results in the induction and expression of NF-kappa-B and MAPK-responsive inflammatory genes. Conjugation to ISG15 impairs formation of the thioester bond with ubiquitin but not interaction with UBE2V2. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;Antigen processing: Ubiquitination & Proteasome degradation;ISG15 antiviral mechanism;Downstream TCR signaling;NOD1/2 Signaling Pathway;activated TAK1 mediates p38 MAPK activation;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling;G2/M DNA damage checkpoint;IKK complex recruitment mediated by RIP1;IRAK1 recruits IKK complex;IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Formation of Incision Complex in GG-NER;E3 ubiquitin ligases ubiquitinate target proteins;TICAM1, RIP1-mediated IKK complex recruitment;Interleukin-1 signaling PE1 12 +NX_P61106 Ras-related protein Rab-14 215 23897 5.85 0 Cytoplasm;Recycling endosome;trans-Golgi network membrane;Phagosome;Golgi apparatus membrane;Early endosome membrane;Cytoplasmic vesicle;Nucleus NA Involved in membrane trafficking between the Golgi complex and endosomes during early embryonic development. Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development. May act by modulating the kinesin KIF16B-cargo association to endosomes (By similarity). Regulates, together with its guanine nucleotide exchange factor DENND6A, the specific endocytic transport of ADAM10, N-cadherin/CDH2 shedding and cell-cell adhesion. NA Belongs to the small GTPase superfamily. Rab family. Translocation of SLC2A4 (GLUT4) to the plasma membrane;Synthesis of PIPs at the plasma membrane;Neutrophil degranulation;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 9 +NX_P61129 Zinc finger CCCH domain-containing protein 6 1189 131670 7.31 0 Golgi apparatus;Nucleoplasm NA NA NA NA NA PE1 2 +NX_P61158 Actin-related protein 3 418 47371 5.61 0 Cytoplasm;Cell projection;Nucleus;Cytoskeleton NA ATP-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9000076). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9000076). Seems to contact the pointed end of the daughter actin filament (PubMed:9000076). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:17220302, PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947). Plays a role in ciliogenesis (PubMed:20393563). NA Belongs to the actin family. ARP3 subfamily. Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;EPHB-mediated forward signaling;Clathrin-mediated endocytosis PE1 2 +NX_P61160 Actin-related protein 2 394 44761 6.29 0 Cytoplasm;Cell projection;Cytosol;Nucleus;Cytoskeleton NA ATP-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9000076). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9000076). Seems to contact the pointed end of the daughter actin filament (PubMed:9000076). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:17220302, PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947). NA Belongs to the actin family. ARP2 subfamily. Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;EPHB-mediated forward signaling;Clathrin-mediated endocytosis;Neutrophil degranulation PE1 2 +NX_P61163 Alpha-centractin 376 42614 6.19 0 Cytoplasm;Cell cortex;Centrosome;Cytoskeleton NA Component of a multi-subunit complex involved in microtubule based vesicle motility. It is associated with the centrosome. NA Belongs to the actin family. ARP1 subfamily. Anchoring of the basal body to the plasma membrane;MHC class II antigen presentation;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;AURKA Activation by TPX2;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 10 +NX_P61165 Transmembrane protein 258 79 9079 5.57 2 Membrane;Endoplasmic reticulum;Cytosol;Cell membrane NA Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (PubMed:26472760, PubMed:27974209). Involved in ER homeostasis in the colonic epithelium (By similarity). NA Belongs to the OST5 family. Protein modification; protein glycosylation. PE1 11 +NX_P61201 COP9 signalosome complex subunit 2 443 51597 5.36 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytoskeleton NA Essential component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Involved in early stage of neuronal differentiation via its interaction with NIF3L1. Phosphorylated by CK2 and PKD kinases. Belongs to the CSN2 family. Formation of TC-NER Pre-Incision Complex;DNA Damage Recognition in GG-NER;Cargo recognition for clathrin-mediated endocytosis;Neddylation PE1 15 +NX_P61204 ADP-ribosylation factor 3 181 20601 6.84 0 Golgi apparatus;Perinuclear region NA GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus. NA Belongs to the small GTPase superfamily. Arf family. Synthesis of PIPs at the Golgi membrane;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 12 +NX_P61218 DNA-directed RNA polymerases I, II, and III subunit RPABC2 127 14478 4.11 0 Nucleoplasm;Nucleus;Nucleolus NA DNA-dependent RNA polymerases catalyze the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II, and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2F/RPB6 is part of the clamp element and together with parts of RPB1 and RPB2 forms a pocket to which the RPB4-RPB7 subcomplex binds (By similarity). NA Belongs to the archaeal RpoK/eukaryotic RPB6 RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Cytosolic DNA-sensing pathway;Huntington's disease;Viral Messenger RNA Synthesis;Transcriptional regulation by small RNAs;PIWI-interacting RNA (piRNA) biogenesis;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;Processing of Capped Intron-Containing Pre-mRNA;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;Cytosolic sensors of pathogen-associated DNA;MicroRNA (miRNA) biogenesis;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase II Transcription Elongation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;FGFR2 alternative splicing;RNA polymerase II transcribes snRNA genes;Signaling by FGFR2 IIIa TM;TP53 Regulates Transcription of DNA Repair Genes;Estrogen-dependent gene expression PE1 22 +NX_P61221 ATP-binding cassette sub-family E member 1 599 67314 8.63 0 Cytoplasm;Cytosol;Mitochondrion NA Antagonizes the binding of 2-5A (5'-phosphorylated 2',5'-linked oligoadenylates) by RNase L through direct interaction with RNase L and therefore inhibits its endoribonuclease activity. May play a central role in the regulation of mRNA turnover. Antagonizes the anti-viral effect of the interferon-regulated 2-5A/RNase L pathway. May act as a chaperone for post-translational events during HIV-1 capsid assembly. NA Belongs to the ABC transporter superfamily. ABCE family. Interferon alpha/beta signaling;OAS antiviral response PE1 4 +NX_P61224 Ras-related protein Rap-1b 184 20825 5.65 0 Cytoplasm;Cell membrane;Cell junction;Cytosol;Nucleus NA GTP-binding protein that possesses intrinsic GTPase activity. Contributes to the polarizing activity of KRIT1 and CDH5 in the establishment and maintenance of correct endothelial cell polarity and vascular lumen. Required for the localization of phosphorylated PRKCZ, PARD3 and TIAM1 to the cell junction. Plays a role in the establishment of basal endothelial barrier function. NA Belongs to the small GTPase superfamily. Ras family. MAPK signaling pathway;Chemokine signaling pathway;Focal adhesion;Leukocyte transendothelial migration;Long-term potentiation;Neurotrophin signaling pathway;Pancreatic secretion;Renal cell carcinoma;MAP2K and MAPK activation;Integrin alphaIIb beta3 signaling;Rap1 signalling;GRB2:SOS provides linkage to MAPK signaling for Integrins;p130Cas linkage to MAPK signaling for integrins;Neutrophil degranulation;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;MET activates RAP1 and RAC1;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 12 +NX_P61225 Ras-related protein Rap-2b 183 20504 4.73 0 Recycling endosome membrane NA Small GTP-binding protein which cycles between a GDP-bound inactive and a GTP-bound active form. Involved in EGFR and CHRM3 signaling pathways through stimulation of PLCE1. May play a role in cytoskeletal rearrangements and regulate cell spreading through activation of the effector TNIK. May regulate membrane vesiculation in red blood cells. Palmitoylated. Unlike RAP2A and RAP2C, palmitoylation of RAP2B is not required for association with recycling endosome membranes and activation of TNIK. Belongs to the small GTPase superfamily. Ras family. Neutrophil degranulation PE1 3 +NX_P61236 Protein yippee-like 3 119 13608 7.66 0 Nucleolus NA Involved in proliferation and apoptosis in myeloid precursor cells. Probably ubiquitinated leading to its degradation by the proteasome. Belongs to the yippee family. NA PE1 16 +NX_P61244 Protein max 160 18275 5.88 0 Golgi apparatus;Nucleoplasm;Cytoplasmic vesicle;Dendrite;Nucleus Pheochromocytoma Transcription regulator. Forms a sequence-specific DNA-binding protein complex with MYC or MAD which recognizes the core sequence 5'-CAC[GA]TG-3'. The MYC:MAX complex is a transcriptional activator, whereas the MAD:MAX complex is a repressor. May repress transcription via the recruitment of a chromatin remodeling complex containing H3 'Lys-9' histone methyltransferase activity. Represses MYC transcriptional activity from E-box elements. Reversible lysine acetylation might regulate the nuclear-cytoplasmic shuttling of specific Max complexes.;MAX is phosphorylated by MAPK14 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the MAX family. MAPK signaling pathway;Pathways in cancer;Small cell lung cancer;Cyclin E associated events during G1/S transition;Cyclin A:Cdk2-associated events at S phase entry;Transcription of E2F targets under negative control by DREAM complex;Transcriptional Regulation by E2F6 PE1 14 +NX_P61247 40S ribosomal protein S3a 264 29945 9.75 0 Cytoplasm;Nucleolus;Endoplasmic reticulum;Cytosol;Nucleus NA May play a role during erythropoiesis through regulation of transcription factor DDIT3. NA Belongs to the eukaryotic ribosomal protein eS1 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 4 +NX_P61254 60S ribosomal protein L26 145 17258 10.55 0 NA Diamond-Blackfan anemia 11 Component of the large ribosomal subunit. NA Belongs to the universal ribosomal protein uL24 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 17 +NX_P61266 Syntaxin-1B 288 33245 5.25 1 Membrane;Spindle;Centrosome;Nucleus Generalized epilepsy with febrile seizures plus 9 Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm (By similarity). Phosphorylated by CK2. Belongs to the syntaxin family. SNARE interactions in vesicular transport;Synaptic vesicle cycle;LGI-ADAM interactions;Toxicity of botulinum toxin type C (BoNT/C) PE1 16 +NX_P61278 Somatostatin 116 12736 5.47 0 Secreted NA Somatostatin-14: Inhibits the secretion of pituitary hormones, including that of growth hormone/somatotropin (GH1), PRL, ACTH, luteinizing hormone (LH) and TSH. Also impairs ghrelin- and GnRH-stimulated secretion of GH1 and LH; the inhibition of ghrelin-stimulated secretion of GH1 can be further increased by neuronostatin.;Neuronostatin: May enhance low-glucose-induced glucagon release by pancreatic alpha cells (By similarity). This effect may be mediated by binding to GPR107 and PKA activation (By similarity). May regulate cardiac contractile function (By similarity). May compromise cardiomyocyte viability (By similarity). In the central nervous system, may impair memory retention and may affect hippocampal excitability (By similarity). May also have anxiolytic and anorexigenic effects (By similarity). May play a role in arterial pressure regulation (By similarity). May inhibit basal, but not ghrelin- or GnRH-stimulated secretion of GH1 or LH, but does not affect the release of other pituitary hormones, including PRL, ACTH, FSH or TSH. Potentiates inhibitory action of somatostatin on ghrelin-stimulated secretion of GH1, but not that on GnRH-stimulated secretion of LH (PubMed:29615476). C-terminal amidation of the neuronostatin peptide is required for its biological activity, including for the regulation of mean arterial pressure. Belongs to the somatostatin family. Gastric acid secretion;G alpha (i) signalling events;Peptide ligand-binding receptors;MECP2 regulates transcription of neuronal ligands PE1 3 +NX_P61289 Proteasome activator complex subunit 3 254 29506 5.69 0 Nucleoplasm;Cytoplasm;Nucleus NA Subunit of the 11S REG-gamma (also called PA28-gamma) proteasome regulator, a doughnut-shaped homoheptamer which associates with the proteasome. 11S REG-gamma activates the trypsin-like catalytic subunit of the proteasome but inhibits the chymotrypsin-like and postglutamyl-preferring (PGPH) subunits. Facilitates the MDM2-p53/TP53 interaction which promotes ubiquitination- and MDM2-dependent proteasomal degradation of p53/TP53, limiting its accumulation and resulting in inhibited apoptosis after DNA damage. May also be involved in cell cycle regulation. Mediates CCAR2 and CHEK2-dependent SIRT1 inhibition (PubMed:25361978). Acetylation at the major site Lys-195 is important for oligomerization and ability to degrade its target substrates. Deacetylated by SIRT1.;Phosphorylated by MAP3K3 (By similarity). Phosphorylation at Ser-247 promotes its association with CCAR2. Belongs to the PA28 family. Proteasome;Antigen processing and presentation;Hepatitis C;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 17 +NX_P61296 Heart- and neural crest derivatives-expressed protein 2 217 23666 9.23 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Essential for cardiac morphogenesis, particularly for the formation of the right ventricle and of the aortic arch arteries. Required for vascular development and regulation of angiogenesis, possibly through a VEGF signaling pathway. Plays also an important role in limb development, particularly in the establishment of anterior-posterior polarization, acting as an upstream regulator of sonic hedgehog (SHH) induction in the limb bud. Is involved in the development of branchial arches, which give rise to unique structures in the head and neck. Binds DNA on E-box consensus sequence 5'-CANNTG-3' (By similarity). NA NA Transcriptional regulation by RUNX2 PE1 4 +NX_P61313 60S ribosomal protein L15 204 24146 11.62 0 Membrane Diamond-Blackfan anemia 12 NA NA Belongs to the eukaryotic ribosomal protein eL15 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 3 +NX_P61326 Protein mago nashi homolog 146 17164 5.74 0 Nucleoplasm;Cytoplasm;Nucleus speckle;Nucleus NA Required for pre-mRNA splicing as component of the spliceosome (PubMed:11991638). Plays a redundant role with MAGOHB as core component of the exon junction complex (EJC) and in the nonsense-mediated decay (NMD) pathway (PubMed:23917022). The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). The MAGOH-RBM8A heterodimer inhibits the ATPase activity of EIF4A3, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. The MAGOH-RBM8A heterodimer interacts with the EJC key regulator PYM1 leading to EJC disassembly in the cytoplasm and translation enhancement of EJC-bearing spliced mRNAs by recruiting them to the ribosomal 48S preinitiation complex. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the function is different from the established EJC assembly. NA Belongs to the mago nashi family. RNA transport;mRNA surveillance pathway;Spliceosome;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Regulation of expression of SLITs and ROBOs;RNA Polymerase II Transcription Termination PE1 1 +NX_P61328 Fibroblast growth factor 12 243 27399 9.98 0 Nucleoplasm;Cytosol;Nucleus Epileptic encephalopathy, early infantile, 47 Involved in nervous system development and function. Involved in the positive regulation of voltage-gated sodium channel activity. Promotes neuronal excitability by elevating the voltage dependence of neuronal sodium channel SCN8A fast inactivation. NA Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;Phase 0 - rapid depolarisation PE1 3 +NX_P61353 60S ribosomal protein L27 136 15798 10.56 0 Cytoplasm;Cytosol;Nucleolus;Rough endoplasmic reticulum Diamond-Blackfan anemia 16 Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25957688, PubMed:25901680). Required for proper rRNA processing and maturation of 28S and 5.8S rRNAs (PubMed:25424902). NA Belongs to the eukaryotic ribosomal protein eL27 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 17 +NX_P61366 Osteocrin 133 14722 9.62 0 Secreted NA Hormone that acts as a regulator of dendritic growth in the developing cerebral cortex in response to sensory experience (PubMed:27830782). Induced in the brain following membrane depolarization and inhibits dendritic branching in neurons of the developing cortex (PubMed:27830782). Probably acts by binding to natriuretic peptide receptor NPR3/NPR-C, thereby preventing binding between NPR3/NPR-C and natriuretic peptides, leading to increase cGMP production (By similarity). NA Belongs to the Osteocrin family. NA PE1 3 +NX_P61371 Insulin gene enhancer protein ISL-1 349 39036 8.64 0 Nucleoplasm;Nucleus NA DNA-binding transcriptional activator. Recognizes and binds to the consensus octamer binding site 5'-ATAATTAA-3' in promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Cooperates with the transcription factor POU4F2 to achieve maximal levels of expression of RGC target genes and RGC fate specification in the developing retina. Involved in the specification of motor neurons in cooperation with LHX3 and LDB1. Binds to insulin gene enhancer sequences. Essential for heart development. Marker of one progenitor cell population that give rise to the outflow tract, right ventricle, a subset of left ventricular cells, and a large number of atrial cells as well, its function is required for these progenitors to contribute to the heart. Controls the expression of FGF and BMP growth factors in this cell population and is required for proliferation and survival of cells within pharyngeal foregut endoderm and adjacent splanchnic mesoderm as well as for migration of cardiac progenitors into the heart (By similarity). Phosphorylated. NA Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP);Regulation of expression of SLITs and ROBOs PE1 5 +NX_P61421 V-type proton ATPase subunit d 1 351 40329 4.89 0 Membrane NA Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium (By similarity). In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633). NA Belongs to the V-ATPase V0D/AC39 subunit family. Oxidative phosphorylation;Metabolic pathways;Lysosome;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Tuberculosis;Rheumatoid arthritis;Transferrin endocytosis and recycling;XBP1(S) activates chaperone genes;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE1 16 +NX_P61457 Pterin-4-alpha-carbinolamine dehydratase 104 12000 6.28 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol Hyperphenylalaninemia, BH4-deficient, D Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity. NA Belongs to the pterin-4-alpha-carbinolamine dehydratase family. Phenylalanine metabolism PE1 10 +NX_P61513 60S ribosomal protein L37a 92 10275 10.44 0 NA NA NA NA Belongs to the eukaryotic ribosomal protein eL43 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 2 +NX_P61550 Endogenous retrovirus group S71 member 1 Env polyprotein 626 68171 8.25 1 Cell membrane NA Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties. The CXXC motif is highly conserved across a broad range of retroviral envelope proteins. It is thought to participate in the formation of a labile disulfide bond possibly with the CX6CC motif present in the transmembrane domain (By similarity). Belongs to the gamma type-C retroviral envelope protein family. HERV class-I T env subfamily. NA PE1 19 +NX_P61565 Endogenous retrovirus group K member 21 Env polyprotein 698 79236 9.22 1 Virion;Cell membrane NA SU mediates receptor recognition.;Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.;TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity). Specific enzymatic cleavages in vivo yield the mature SU and TM proteins. Belongs to the beta type-B retroviral envelope protein family. HERV class-II K(HML-2) env subfamily. NA PE1 12 +NX_P61566 Endogenous retrovirus group K member 24 Env polyprotein 588 66585 8.23 1 Virion;Cell membrane NA TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).;SU mediates receptor recognition.;Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. Specific enzymatic cleavages in vivo yield the mature SU and TM proteins. Belongs to the beta type-B retroviral envelope protein family. HERV class-II K(HML-2) env subfamily. NA PE2 22 +NX_P61567 Endogenous retrovirus group K member 7 Env polyprotein 588 66649 8.55 1 Virion;Cell membrane NA Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution.;TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).;SU mediates receptor recognition. Specific enzymatic cleavages in vivo yield the mature SU and TM proteins. Belongs to the beta type-B retroviral envelope protein family. HERV class-II K(HML-2) env subfamily. NA PE2 1 +NX_P61568 Putative endogenous retrovirus group K member 11-1 Env polyprotein 191 21462 6.29 0 Virion NA Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution (By similarity). NA Belongs to the beta type-B retroviral envelope protein family. HERV class-II K(HML-8) env subfamily. NA PE5 1 +NX_P61570 Endogenous retrovirus group K member 25 Env polyprotein 661 74892 9 1 Virion;Cell membrane NA Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution (By similarity).;SU mediates receptor recognition.;TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity). Specific enzymatic cleavages in vivo yield the mature SU and TM proteins. Belongs to the beta type-B retroviral envelope protein family. HERV class-II K(HML-2) env subfamily. NA PE3 11 +NX_P61571 Endogenous retrovirus group K member 21 Rec protein 104 11722 10.39 0 Cytoplasm;Nucleolus NA Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity). NA NA NA PE1 12 +NX_P61572 Endogenous retrovirus group K member 19 Rec protein 105 11828 10.22 0 Cytoplasm;Nucleolus NA Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity). NA NA NA PE1 19 +NX_P61573 Endogenous retrovirus group K member 9 Rec protein 105 11828 10.22 0 Cytoplasm;Nucleolus NA Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity). NA NA NA PE1 6 +NX_P61574 Endogenous retrovirus group K member 113 Rec protein 105 11920 10.13 0 Cytoplasm;Nucleolus NA Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity). NA NA NA PE1 19 +NX_P61575 Endogenous retrovirus group K member 8 Rec protein 105 11844 10.22 0 Cytoplasm;Nucleolus NA Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity). NA NA NA PE1 8 +NX_P61576 Endogenous retrovirus group K member 104 Rec protein 105 11735 9.95 0 Cytoplasm;Nucleolus NA Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity). NA NA NA PE1 5 +NX_P61578 Endogenous retrovirus group K member 16 Rec protein 105 11808 10 0 Cytoplasm;Nucleolus NA Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity). NA NA NA PE1 10 +NX_P61579 Endogenous retrovirus group K member 25 Rec protein 105 11828 10.22 0 Cytoplasm;Nucleolus NA Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity). NA NA NA PE1 11 +NX_P61580 Endogenous retrovirus group K member 10 Np9 protein 75 8892 9.91 0 Nucleus NA May possess a function in tumorigenesis. NA NA NA PE1 5 +NX_P61581 Endogenous retrovirus group K member 24 Np9 protein 75 8893 9.74 0 Nucleus NA May possess a function in tumorigenesis. NA NA NA PE1 22 +NX_P61582 Endogenous retrovirus group K member 7 Np9 protein 75 8820 9.58 0 Nucleus NA May possess a function in tumorigenesis. NA NA NA PE3 1 +NX_P61583 Endogenous retrovirus group K member 5 Np9 protein 75 8907 9.66 0 Nucleus NA May possess a function in tumorigenesis. NA NA NA PE3 3 +NX_P61586 Transforming protein RhoA 193 21768 5.83 0 Cell cortex;Cleavage furrow;Cell membrane;Lamellipodium;Cytosol;Dendrite;Midbody;Cytoskeleton NA (Microbial infection) Serves as a target for the yopT cysteine peptidase from Yersinia pestis, vector of the plague.;Small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. Mainly associated with cytoskeleton organization, in active state binds to a variety of effector proteins to regulate cellular responses such cytoskeletal dynamics, cell migration and cell cycle. Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers (PubMed:8910519, PubMed:9121475). Involved in a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis (PubMed:16236794, PubMed:12900402). Plays an essential role in cleavage furrow formation. Required for the apical junction formation of keratinocyte cell-cell adhesion (PubMed:20974804, PubMed:23940119). Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly (PubMed:19934221). The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization (PubMed:20937854). Regulates KCNA2 potassium channel activity by reducing its location at the cell surface in response to CHRM1 activation; promotes KCNA2 endocytosis (PubMed:9635436, PubMed:19403695). May be an activator of PLCE1 (PubMed:16103226). In neurons, involved in the inhibiton of the initial spine growth. Upon activation by CaMKII, modulates dendritic spine structural plasticity by relaying CaMKII transient activation to synapse-specific, long-term signaling (By similarity). (Microbial infection) Glycosylated at Tyr-34 by Photorhabdus asymbiotica toxin PAU_02230. Mono-O-GlcNAcylation by PAU_02230 inhibits downstream signaling by an impaired interaction with diverse regulator and effector proteins of Rho and leads to actin disassembly.;Phosphorylation by PRKG1 at Ser-188 inactivates RHOA signaling (PubMed:11162591). Phosphorylation by SLK at Ser-188 in response to AGTR2 activation (By similarity).;Ubiquitinated by the BCR(KCTD13) and BCR(TNFAIP1) E3 ubiquitin ligase complexes, leading to its degradation by the proteasome, thereby regulating the actin cytoskeleton and synaptic transmission in neurons.;(Microbial infection) Substrate for botulinum ADP-ribosyltransferase.;(Microbial infection) Cleaved by yopT protease when the cell is infected by some Yersinia pathogens. This removes the lipid attachment, and leads to its displacement from plasma membrane and to subsequent cytoskeleton cleavage.;(Microbial infection) AMPylation at Tyr-34 and Thr-37 are mediated by bacterial enzymes in case of infection by H.somnus and V.parahaemolyticus, respectively. AMPylation occurs in the effector region and leads to inactivation of the GTPase activity by preventing the interaction with downstream effectors, thereby inhibiting actin assembly in infected cells. It is unclear whether some human enzyme mediates AMPylation; FICD has such ability in vitro but additional experiments remain to be done to confirm results in vivo. Belongs to the small GTPase superfamily. Rho family. Chemokine signaling pathway;Endocytosis;Vascular smooth muscle contraction;Wnt signaling pathway;TGF-beta signaling pathway;Axon guidance;Focal adhesion;Adherens junction;Tight junction;T cell receptor signaling pathway;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Regulation of actin cytoskeleton;Pancreatic secretion;Bacterial invasion of epithelial cells;Pathogenic Escherichia coli infection;Pertussis;Tuberculosis;Pathways in cancer;Colorectal cancer;RHO GTPases Activate Rhotekin and Rhophilins;TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition);RHO GTPases Activate Formins;GPVI-mediated activation cascade;G beta:gamma signalling through PI3Kgamma;EPHB-mediated forward signaling;Axonal growth inhibition (RHOA activation);Rho GTPase cycle;Axonal growth stimulation;G alpha (12/13) signalling events;VEGFA-VEGFR2 Pathway;EPHA-mediated growth cone collapse;PCP/CE pathway;Sema4D mediated inhibition of cell attachment and migration;RHO GTPases activate PKNs;Sema4D induced cell migration and growth-cone collapse;RHO GTPases activate CIT;RHO GTPases Activate ROCKs;RHO GTPases activate KTN1;PI3K/AKT activation;ERBB2 Regulates Cell Motility;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases;Ovarian tumor domain proteases;Neutrophil degranulation;SLIT2:ROBO1 increases RHOA activity PE1 3 +NX_P61587 Rho-related GTP-binding protein RhoE 244 27368 8.78 0 Golgi apparatus membrane NA Binds GTP but lacks intrinsic GTPase activity and is resistant to Rho-specific GTPase-activating proteins. NA Belongs to the small GTPase superfamily. Rho family. NA PE1 2 +NX_P61599 N-alpha-acetyltransferase 20 178 20368 4.98 0 Cytoplasm;Cytosol;Nucleus NA Catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp, Met-Glu, Met-Asn and Met-Gln. Proteins with cell cycle functions are overrepresented in the pool of NatB substrates. Required for maintaining the structure and function of actomyosin fibers and for proper cellular migration. NA Belongs to the acetyltransferase family. ARD1 subfamily. NA PE1 20 +NX_P61601 Neurocalcin-delta 193 22245 5.23 0 NA NA May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. Binds three calcium ions. NA Belongs to the recoverin family. Activation of Ca-permeable Kainate Receptor PE1 8 +NX_P61604 10 kDa heat shock protein, mitochondrial 102 10932 8.89 0 Mitochondrion matrix NA Co-chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp60, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix (PubMed:7912672, PubMed:1346131, PubMed:11422376). The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per ring, followed by the binding of ATP and association with 2 heptameric rings of the co-chaperonin Hsp10. This leads to sequestration of the substrate protein in the inner cavity of Hsp60 where, for a certain period of time, it can fold undisturbed by other cell components. Synchronous hydrolysis of ATP in all Hsp60 subunits results in the dissociation of the chaperonin rings and the release of ADP and the folded substrate protein (Probable). NA Belongs to the GroES chaperonin family. NA PE1 2 +NX_P61619 Protein transport protein Sec61 subunit alpha isoform 1 476 52265 8.3 10 Endoplasmic reticulum;Endoplasmic reticulum membrane Familial juvenile hyperuricemic nephropathy 4 Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across endoplasmic reticulum (ER). Forms a ribosome receptor and a gated pore in the ER membrane, both functions required for cotranslational translocation of nascent polypeptides (PubMed:22375059, PubMed:28782633, PubMed:29719251). May cooperate with auxiliary protein SEC62, SEC63 and HSPA5/BiP to enable post-translational transport of small presecretory proteins (PubMed:22375059, PubMed:29719251). Controls the passive efflux of calcium ions from the ER lumen to the cytosol through SEC61 channel, contributing to the maintenance of cellular calcium homeostasis (PubMed:28782633). Plays a critical role in nephrogenesis, specifically at pronephros stage (By similarity). NA Belongs to the SecY/SEC61-alpha family. Protein export;Protein processing in endoplasmic reticulum;Phagosome;Vibrio cholerae infection;ER-Phagosome pathway;SRP-dependent cotranslational protein targeting to membrane PE1 3 +NX_P61626 Lysozyme C 148 16537 9.38 0 Golgi apparatus;Nucleoplasm;Secreted;Cytoskeleton Amyloidosis 8 Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte-macrophage system and enhance the activity of immunoagents. NA Belongs to the glycosyl hydrolase 22 family. Salivary secretion;Amyloid fiber formation;Neutrophil degranulation;Antimicrobial peptides PE1 12 +NX_P61647 Alpha-2,8-sialyltransferase 8F 398 44836 9.19 1 Endoplasmic reticulum;Golgi apparatus membrane NA Prefers O-glycans to N-glycans or glycolipids as acceptor substrates. The minimal acceptor substrate is the NeuAc-alpha-2,3(6)-Gal sequence at the non-reducing end of their carbohydrate groups (By similarity). NA Belongs to the glycosyltransferase 29 family. Protein modification; protein glycosylation.;Sialic acid metabolism;N-Glycan antennae elongation PE1 10 +NX_P61758 Prefoldin subunit 3 197 22626 6.64 0 Cytoplasm;Cytosol;Nucleus;Cytoplasmic vesicle NA Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins. NA Belongs to the prefoldin subunit alpha family. Prefoldin mediated transfer of substrate to CCT/TriC PE1 X +NX_P61764 Syntaxin-binding protein 1 594 67569 6.5 0 Membrane;Nucleoplasm;Cytosol Epileptic encephalopathy, early infantile, 4 Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins (By similarity). Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. May play a role in determining the specificity of intracellular fusion reactions. STXBP1 is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255) Belongs to the STXBP/unc-18/SEC1 family. Synaptic vesicle cycle;Acetylcholine Neurotransmitter Release Cycle;GABA synthesis, release, reuptake and degradation;Glutamate Neurotransmitter Release Cycle;Norepinephrine Neurotransmitter Release Cycle;Regulation of insulin secretion;Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle;Neurexins and neuroligins PE1 9 +NX_P61769 Beta-2-microglobulin 119 13715 6.06 0 Golgi apparatus;Cell membrane;Secreted;Cell surface;Cytosol Amyloidosis 8;Immunodeficiency 43 Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation (PubMed:25356553). Glycation of Ile-21 is observed in long-term hemodialysis patients. Belongs to the beta-2-microglobulin family. Antigen processing and presentation;ER-Phagosome pathway;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Endosomal/Vacuolar pathway;Interferon gamma signaling;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;DAP12 signaling;Amyloid fiber formation;Nef mediated downregulation of MHC class I complex cell surface expression;DAP12 interactions;Neutrophil degranulation PE1 15 +NX_P61803 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1 113 12497 6.52 3 Cytosol;Endoplasmic reticulum membrane NA Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:22467853). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (By similarity). Required for the assembly of both SST3A- and SS3B-containing OST complexes. Loss of the DAD1 protein triggers apoptosis (PubMed:22467853). NA Belongs to the DAD/OST2 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Protein processing in endoplasmic reticulum;Asparagine N-linked glycosylation PE1 14 +NX_P61812 Transforming growth factor beta-2 proprotein 414 47748 8.82 0 Extracellular matrix;Secreted Loeys-Dietz syndrome 4 Transforming growth factor beta-2 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively.;Latency-associated peptide: Required to maintain the Transforming growth factor beta-2 (TGF-beta-2) chain in a latent state during storage in extracellular matrix (By similarity). Associates non-covalently with TGF-beta-2 and regulates its activation via interaction with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-2 (By similarity).;Transforming growth factor beta-2: Multifunctional protein that regulates various processes such as angiogenesis and heart development (PubMed:22772371, PubMed:22772368). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains remain non-covalently linked rendering TGF-beta-2 inactive during storage in extracellular matrix (By similarity). At the same time, LAP chain interacts with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-2 and maintain it in a latent state during storage in extracellular milieus (By similarity). Once activated following release of LAP, TGF-beta-2 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (By similarity). Transforming growth factor beta-2 proprotein: The precursor proprotein is cleaved in the Golgi apparatus to form Transforming growth factor beta-2 (TGF-beta-2) and Latency-associated peptide (LAP) chains, which remain non-covalently linked, rendering TGF-beta-2 inactive. Belongs to the TGF-beta family. MAPK signaling pathway;Cytokine-cytokine receptor interaction;Cell cycle;Endocytosis;TGF-beta signaling pathway;Osteoclast differentiation;Leishmaniasis;Chagas disease (American trypanosomiasis);Malaria;Toxoplasmosis;Amoebiasis;Tuberculosis;HTLV-I infection;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Chronic myeloid leukemia;Rheumatoid arthritis;Hypertrophic cardiomyopathy (HCM);Platelet degranulation;ECM proteoglycans;Molecules associated with elastic fibres PE1 1 +NX_P61916 NPC intracellular cholesterol transporter 2 151 16570 7.57 0 Endoplasmic reticulum;Secreted;Lysosome Niemann-Pick disease C2 Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment (PubMed:17018531, PubMed:11125141, PubMed:18772377, PubMed:29580834, PubMed:15937921). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:17018531, PubMed:18772377, PubMed:27238017). May bind and mobilize cholesterol that is associated with membranes (PubMed:18823126). NPC2 binds cholesterol with a 1:1 stoichiometry (PubMed:17018531). Can bind a variety of sterols, including lathosterol, desmosterol and the plant sterols stigmasterol and beta-sitosterol (PubMed:17018531). The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport (By similarity). NA Belongs to the NPC2 family. Lysosome;Neutrophil degranulation;LDL clearance PE1 14 +NX_P61923 Coatomer subunit zeta-1 177 20198 4.69 0 Golgi apparatus;Cytoplasm;Cell membrane;COPI-coated vesicle membrane;Golgi apparatus membrane NA The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic protein transport due to its association-dissociation properties with the coatomer complex.;The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity). NA Belongs to the adaptor complexes small subunit family. COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 12 +NX_P61925 cAMP-dependent protein kinase inhibitor alpha 76 7989 4.45 0 NA NA Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains. NA Belongs to the PKI family. NA PE1 8 +NX_P61927 60S ribosomal protein L37 97 11078 11.74 0 Cytoplasm;Nucleolus;Nucleus NA Binds to the 23S rRNA. NA Belongs to the eukaryotic ribosomal protein eL37 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 5 +NX_P61952 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 73 8481 5.47 0 Cytoplasm;Cell membrane NA Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. NA Belongs to the G protein gamma family. Chemokine signaling pathway;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;G alpha (i) signalling events;G alpha (q) signalling events;G alpha (s) signalling events;G beta:gamma signalling through PI3Kgamma;G alpha (12/13) signalling events;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G-protein activation;ADP signalling through P2Y purinoceptor 12;Prostacyclin signalling through prostacyclin receptor;Adrenaline,noradrenaline inhibits insulin secretion;Ca2+ pathway;G beta:gamma signalling through PLC beta;ADP signalling through P2Y purinoceptor 1;G alpha (z) signalling events;Glucagon-type ligand receptors;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Presynaptic function of Kainate receptors;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling;G beta:gamma signalling through BTK;G beta:gamma signalling through CDC42 PE1 7 +NX_P61956 Small ubiquitin-related modifier 2 95 10871 5.32 0 PML body;Nucleus NA Ubiquitin-like protein that can be covalently attached to proteins as a monomer or as a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by an E3 ligase such as PIAS1-4, RANBP2, CBX4 or ZNF451 (PubMed:26524494). This post-translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Polymeric SUMO2 chains are also susceptible to polyubiquitination which functions as a signal for proteasomal degradation of modified proteins (PubMed:18408734, PubMed:18538659, PubMed:21965678, PubMed:9556629). Plays a role in the regulation of sumoylation status of SETX (PubMed:24105744). Cleavage of precursor form by SENP1 or SENP2 is necessary for function.;Polymeric chains can be formed through Lys-11 cross-linking. Polymeric SUMO2 chains undergo 'Lys-6'-, 'Lys-11'-, 'Lys-48'- and 'Lys-63'-linked polyubiquitination by RNF4.;Monoubiquitinated N-terminally by UBE2W, which primes it for RNF4-dependent polyubiquitination by the UBE2V1-UBE2N heterodimer. Belongs to the ubiquitin family. SUMO subfamily. RNA transport;SUMOylation of DNA damage response and repair proteins;Vitamin D (calciferol) metabolism;SUMO is conjugated to E1 (UBA2:SAE1);SUMO is transferred from E1 to E2 (UBE2I, UBC9);SUMO is proteolytically processed;Processing of DNA double-strand break ends;Formation of Incision Complex in GG-NER;SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of transcription factors;SUMOylation of chromatin organization proteins;SUMOylation of intracellular receptors;SUMOylation of SUMOylation proteins;SUMOylation of transcription cofactors PE1 17 +NX_P61960 Ubiquitin-fold modifier 1 85 9118 9.36 0 Cytoplasm;Nucleus Leukodystrophy, hypomyelinating, 14 Ubiquitin-like modifier which can be covalently attached via an isopeptide bond to substrate proteins as a monomer or a lysine-linked polymer (PubMed:15071506, PubMed:20018847, PubMed:29868776). The so-called ufmylation, requires the UFM1-activating E1 enzyme UBA5, the UFM1-conjugating E2 enzyme UFC1, and the UFM1-ligase E3 enzyme UFL1 (PubMed:15071506, PubMed:20018847, PubMed:29868776). This post-translational modification on lysine residues of proteins may play a crucial role in a number of cellular processes (PubMed:15071506, PubMed:20018847). TRIP4 ufmylation may for instance play a role in nuclear receptors-mediated transcription (PubMed:25219498). Other substrates may include DDRGK1 with which it may play a role in the cellular response to endoplasmic reticulum stress (Probable). NA Belongs to the UFM1 family. NA PE1 13 +NX_P61962 DDB1- and CUL4-associated factor 7 342 38926 5.27 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Involved in craniofacial development. Acts upstream of the EDN1 pathway and is required for formation of the upper jaw equivalent, the palatoquadrate. The activity required for EDN1 pathway function differs between the first and second arches (By similarity). Associates with DIAPH1 and controls GLI1 transcriptional activity. Could be involved in normal and disease skin development. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. NA Belongs to the WD repeat DCAF7 family. Protein modification; protein ubiquitination.;Association of TriC/CCT with target proteins during biosynthesis;Neddylation PE1 17 +NX_P61964 WD repeat-containing protein 5 334 36588 8.54 0 Nucleoplasm;Nucleus NA Contributes to histone modification. May position the N-terminus of histone H3 for efficient trimethylation at 'Lys-4'. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. May regulate osteoblasts differentiation. NA Belongs to the WD repeat WDR5/wds family. PKMTs methylate histone lysines;RMTs methylate histone arginines;HATs acetylate histones;Activation of anterior HOX genes in hindbrain development during early embryogenesis;Neddylation;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 9 +NX_P61966 AP-1 complex subunit sigma-1A 158 18733 5.6 0 Golgi apparatus;Clathrin-coated pit;Cytoplasmic vesicle membrane Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. NA Belongs to the adaptor complexes small subunit family. Lysosome;MHC class II antigen presentation;Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis;Nef mediated downregulation of MHC class I complex cell surface expression PE1 7 +NX_P61968 LIM domain transcription factor LMO4 165 17994 8.75 0 Nucleoplasm;Midbody ring NA Probable transcriptional factor. NA NA NA PE1 1 +NX_P61970 Nuclear transport factor 2 127 14478 5.1 0 Nucleus outer membrane;Nuclear pore complex;Nucleoplasm;Nucleus inner membrane;Cytosol;Cytoskeleton NA Mediates the import of GDP-bound RAN from the cytoplasm into the nucleus which is essential for the function of RAN in cargo receptor-mediated nucleocytoplasmic transport. Thereby, plays indirectly a more general role in cargo receptor-mediated nucleocytoplasmic transport. Interacts with GDP-bound RAN in the cytosol, recruits it to the nuclear pore complex via its interaction with nucleoporins and promotes its nuclear import. NA NA NA PE1 16 +NX_P61978 Heterogeneous nuclear ribonucleoprotein K 463 50976 5.39 0 Nucleoplasm;Cytoplasm;Podosome Au-Kline syndrome One of the major pre-mRNA-binding proteins. Binds tenaciously to poly(C) sequences. Likely to play a role in the nuclear metabolism of hnRNAs, particularly for pre-mRNAs that contain cytidine-rich sequences. Can also bind poly(C) single-stranded DNA. Plays an important role in p53/TP53 response to DNA damage, acting at the level of both transcription activation and repression. When sumoylated, acts as a transcriptional coactivator of p53/TP53, playing a role in p21/CDKN1A and 14-3-3 sigma/SFN induction (By similarity). As far as transcription repression is concerned, acts by interacting with long intergenic RNA p21 (lincRNA-p21), a non-coding RNA induced by p53/TP53. This interaction is necessary for the induction of apoptosis, but not cell cycle arrest. Ubiquitinated by MDM2. Doxorubicin treatment does not affect monoubiquitination, but slightly decreases HNRNPK poly-ubiquitination.;O-glycosylated (O-GlcNAcylated), in a cell cycle-dependent manner.;Sumoylated by CBX4. Sumoylation is increased upon DNA damage, such as that produced by doxorubicin, etoposide, UV light and camptothecin, due to enhanced CBX4 phosphorylation by HIPK2 under these conditions.;Arg-296 and Arg-299 are dimethylated, probably to asymmetric dimethylarginine. NA Spliceosome;Herpes simplex infection;mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA;SUMOylation of RNA binding proteins PE1 9 +NX_P61981 14-3-3 protein gamma 247 28303 4.8 0 Cytoplasm Epileptic encephalopathy, early infantile, 56 Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Phosphorylated by various PKC isozymes. Belongs to the 14-3-3 family. Cell cycle;Oocyte meiosis;Neurotrophin signaling pathway;Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Translocation of SLC2A4 (GLUT4) to the plasma membrane;TP53 Regulates Metabolic Genes;Activation of BAD and translocation to mitochondria;Recruitment of NuMA to mitotic centrosomes;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;RHO GTPases activate PKNs;AURKA Activation by TPX2;Regulation of localization of FOXO transcription factors PE1 7 +NX_P62068 Ubiquitin carboxyl-terminal hydrolase 46 366 42442 6.39 0 Nucleolus NA Deubiquitinating enzyme that plays a role in behavior, possibly by regulating GABA action. May act by mediating the deubiquitination of GAD1/GAD67 (By similarity). Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity (PubMed:19075014, PubMed:26388029). Not involved in deubiquitination of monoubiquitinated FANCD2 (PubMed:19075014). NA Belongs to the peptidase C19 family. USP12/USP46 subfamily. NA PE1 4 +NX_P62070 Ras-related protein R-Ras2 204 23400 5.74 0 Nucleoplasm;Cytosol;Cell membrane Ovarian cancer It is a plasma membrane-associated GTP-binding protein with GTPase activity. Might transduce growth inhibitory signals across the cell membrane, exerting its effect through an effector shared with the Ras proteins but in an antagonistic fashion. May be post-translationally modified by both palmitoylation and polyisoprenylation. Belongs to the small GTPase superfamily. Ras family. MAPK signaling pathway;Tight junction;Regulation of actin cytoskeleton;HTLV-I infection PE1 11 +NX_P62072 Mitochondrial import inner membrane translocase subunit Tim10 90 10333 5.89 0 Mitochondrion inner membrane;Mitochondrion NA Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. NA Belongs to the small Tim family. Mitochondrial protein import PE1 11 +NX_P62079 Tetraspanin-5 268 30337 4.59 4 Cell membrane NA Regulates ADAM10 maturation and trafficking to the cell surface. Promotes ADAM10-mediated cleavage of CD44. NA Belongs to the tetraspanin (TM4SF) family. Amyloid fiber formation PE1 4 +NX_P62081 40S ribosomal protein S7 194 22127 10.09 0 Nucleolus;Endoplasmic reticulum;Centrosome;Cytosol;Nucleus Diamond-Blackfan anemia 8 Required for rRNA maturation. Phosphorylated by NEK6.;Ubiquitinated. Deubiquitinated by DESI2, leading to its stabilization.;RPS7 is phosphorylated by NEK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the eukaryotic ribosomal protein eS7 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 2 +NX_P62136 Serine/threonine-protein phosphatase PP1-alpha catalytic subunit 330 37512 5.94 0 Cytoplasm;Cell membrane;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase 1 (PP1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. May play an important role in dephosphorylating substrates such as the postsynaptic density-associated Ca(2+)/calmodulin dependent protein kinase II. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. Regulates NEK2 function in terms of kinase activity and centrosome number and splitting, both in the presence and absence of radiation-induced DNA damage. Regulator of neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. In balance with CSNK1D and CSNK1E, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. May dephosphorylate CSNK1D and CSNK1E. Dephosphorylates the 'Ser-418' residue of FOXP3 in regulatory T-cells (Treg) from patients with rheumatoid arthritis, thereby inactivating FOXP3 and rendering Treg cells functionally defective (PubMed:23396208). Dephosphorylates CENPA (PubMed:25556658). Dephosphorylates the 'Ser-139' residue of ATG16L1 causing dissociation of ATG12-ATG5-ATG16L1 complex, thereby inhibiting autophagy (PubMed:26083323).;(Microbial infection) Necessary for alphaviruses replication. Phosphorylated. Dephosphorylated at Thr-320 in the presence of ionizing radiation.;PPP1CA is phosphorylated by FGR (Phosphotyrosine:PTM-0255) Belongs to the PPP phosphatase family. PP-1 subfamily. Oocyte meiosis;Vascular smooth muscle contraction;Focal adhesion;Long-term potentiation;Dopaminergic synapse;Regulation of actin cytoskeleton;Insulin signaling pathway;Herpes simplex infection;Triglyceride catabolism;Circadian Clock;DARPP-32 events;Downregulation of TGF-beta receptor signaling PE1 11 +NX_P62140 Serine/threonine-protein phosphatase PP1-beta catalytic subunit 327 37187 5.84 0 Cytoplasm;Cell membrane;Nucleolus;Nucleoplasm;Cytosol;Nucleus Noonan syndrome-like disorder with loose anagen hair 2 Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase (PP1) is essential for cell division, it participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. In balance with CSNK1D and CSNK1E, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. May dephosphorylate CSNK1D and CSNK1E. Dephosphorylates the 'Ser-418' residue of FOXP3 in regulatory T-cells (Treg) from patients with rheumatoid arthritis, thereby inactivating FOXP3 and rendering Treg cells functionally defective (PubMed:23396208). PPP1CB is phosphorylated by CDC42BPA (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the PPP phosphatase family. PP-1 subfamily. Oocyte meiosis;Vascular smooth muscle contraction;Focal adhesion;Long-term potentiation;Dopaminergic synapse;Regulation of actin cytoskeleton;Insulin signaling pathway;Herpes simplex infection;Regulation of PLK1 Activity at G2/M Transition;Triglyceride catabolism;Circadian Clock;Downregulation of TGF-beta receptor signaling;RHO GTPases activate PKNs;RHO GTPases activate CIT;RHO GTPases activate PAKs;RHO GTPases Activate ROCKs PE1 2 +NX_P62166 Neuronal calcium sensor 1 190 21879 4.71 0 Golgi apparatus;Cytoplasm;Cell membrane;Membrane;Postsynaptic density;Perinuclear region NA Neuronal calcium sensor, regulator of G protein-coupled receptor phosphorylation in a calcium dependent manner. Directly regulates GRK1 (RHOK), but not GRK2 to GRK5. Can substitute for calmodulin (By similarity). Stimulates PI4KB kinase activity (By similarity). Involved in long-term synaptic plasticity through its interaction with PICK1 (By similarity). May also play a role in neuron differentiation through inhibition of the activity of N-type voltage-gated calcium channel (By similarity). NA Belongs to the recoverin family. NA PE1 9 +NX_P62191 26S proteasome regulatory subunit 4 440 49185 5.87 0 Cytoplasm;Membrane;Nucleoplasm;Cytosol;Nucleus NA Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC1 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides. NA Belongs to the AAA ATPase family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;N-glycan trimming in the ER and Calnexin/Calreticulin cycle;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 14 +NX_P62195 26S proteasome regulatory subunit 8 406 45626 7.11 0 Cytoplasm;Cytosol;Nucleus;Cell membrane NA Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC5 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides. NA Belongs to the AAA ATPase family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 17 +NX_P62241 40S ribosomal protein S8 208 24205 10.32 0 Cytoplasm;Nucleolus;Membrane;Endoplasmic reticulum;Cytosol;Nucleus NA NA NA Belongs to the eukaryotic ribosomal protein eS8 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 1 +NX_P62244 40S ribosomal protein S15a 130 14840 10.14 0 Cytoplasm Diamond-Blackfan anemia 20 Structural component of the ribosome (PubMed:23636399). Required for proper erythropoiesis (PubMed:27909223). NA Belongs to the universal ribosomal protein uS8 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 16 +NX_P62249 40S ribosomal protein S16 146 16445 10.21 0 Endoplasmic reticulum;Cytosol;Cytoplasm NA NA NA Belongs to the universal ribosomal protein uS9 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 19 +NX_P62253 Ubiquitin-conjugating enzyme E2 G1 170 19509 5.2 0 Nucleoplasm;Cytosol NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. May be involved in degradation of muscle-specific proteins. Mediates polyubiquitination of CYP3A4. Autoubiquitinated in vitro. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;Parkinson's disease;Antigen processing: Ubiquitination & Proteasome degradation;Synthesis of active ubiquitin: roles of E1 and E2 enzymes PE1 17 +NX_P62256 Ubiquitin-conjugating enzyme E2 H 183 20655 4.55 0 Mitochondrion NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:8132613, PubMed:17588522, PubMed:20061386). E2 ubiquitin conjugating enzyme that transfers ubiquitin to MAEA, a core component of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). In vitro catalyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitination (PubMed:20061386). Capable, in vitro, to ubiquitinate histone H2A (PubMed:8132613). Autoubiquitinated in vitro in the presence of NEDD4L. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Synthesis of active ubiquitin: roles of E1 and E2 enzymes PE1 7 +NX_P62258 14-3-3 protein epsilon 255 29174 4.63 0 Cytoplasm;Melanosome;Nucleus NA Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner (By similarity). Positively regulates phosphorylated protein HSF1 nuclear export to the cytoplasm (PubMed:12917326). NA Belongs to the 14-3-3 family. Cell cycle;Oocyte meiosis;Neurotrophin signaling pathway;Regulation of HSF1-mediated heat shock response;Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Signaling by Hippo;TP53 Regulates Metabolic Genes;Activation of BAD and translocation to mitochondria;HSF1 activation;Recruitment of NuMA to mitotic centrosomes;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;RHO GTPases activate PKNs;NADE modulates death signalling;AURKA Activation by TPX2;RAB GEFs exchange GTP for GDP on RABs;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models PE1 17 +NX_P62263 40S ribosomal protein S14 151 16273 10.07 0 Endoplasmic reticulum;Cytosol NA NA NA Belongs to the universal ribosomal protein uS11 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 5 +NX_P62266 40S ribosomal protein S23 143 15808 10.5 0 Endoplasmic reticulum;Cytoplasm;Cytosol;Rough endoplasmic reticulum Brachycephaly, trichomegaly, and developmental delay Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:28257692, PubMed:23636399, PubMed:25957688, PubMed:25901680). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel (PubMed:23636399, PubMed:25957688, PubMed:25901680). Plays an important role in translational accuracy (PubMed:28257692). Hydroxylation at Pro-62 affects translation termination efficiency. Belongs to the universal ribosomal protein uS12 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 5 +NX_P62269 40S ribosomal protein S18 152 17719 10.99 0 Cytoplasm;Cytosol NA Located at the top of the head of the 40S subunit, it contacts several helices of the 18S rRNA. NA Belongs to the universal ribosomal protein uS13 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 6 +NX_P62273 40S ribosomal protein S29 56 6677 10.16 0 Endoplasmic reticulum;Cytosol;Cytoplasm;Rough endoplasmic reticulum Diamond-Blackfan anemia 13 NA NA Belongs to the universal ribosomal protein uS14 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 14 +NX_P62277 40S ribosomal protein S13 151 17222 10.53 0 Endoplasmic reticulum;Nucleolus NA NA NA Belongs to the universal ribosomal protein uS15 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 11 +NX_P62280 40S ribosomal protein S11 158 18431 10.31 0 Endoplasmic reticulum;Cytosol;Nucleolus NA NA Citrullinated by PADI4. Belongs to the universal ribosomal protein uS17 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 19 +NX_P62304 Small nuclear ribonucleoprotein E 92 10804 9.46 0 Cytosol;Nucleus Hypotrichosis 11 Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:23246290, PubMed:19325628, PubMed:23333303, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077). As part of the U7 snRNP it is involved in histone 3'-end processing (PubMed:12975319). May indirectly play a role in hair development (PubMed:23246290). NA Belongs to the snRNP Sm proteins family. Spliceosome;snRNP Assembly;SLBP independent Processing of Histone Pre-mRNAs;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 1 +NX_P62306 Small nuclear ribonucleoprotein F 86 9725 4.7 0 Nucleus;Nucleolus;Cytosol NA Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:23333303, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077). As part of the U7 snRNP it is involved in histone 3'-end processing (PubMed:12975319). NA Belongs to the snRNP Sm proteins family. SmF/LSm6 subfamily. Spliceosome;snRNP Assembly;SLBP independent Processing of Histone Pre-mRNAs;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 12 +NX_P62308 Small nuclear ribonucleoprotein G 76 8496 8.98 0 Cytosol;Nucleus NA Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:23333303, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077). As part of the U7 snRNP it is involved in histone 3'-end processing (PubMed:12975319). NA Belongs to the snRNP Sm proteins family. Spliceosome;snRNP Assembly;SLBP independent Processing of Histone Pre-mRNAs;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 2 +NX_P62310 U6 snRNA-associated Sm-like protein LSm3 102 11845 4.58 0 Nucleoplasm;Nucleolus;Nucleus NA Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320). NA Belongs to the snRNP Sm proteins family. RNA degradation;Spliceosome;mRNA Splicing - Major Pathway;mRNA decay by 5' to 3' exoribonuclease PE1 3 +NX_P62312 U6 snRNA-associated Sm-like protein LSm6 80 9128 9.61 0 Cytoplasm;Nucleus;Cytoskeleton NA Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320). Component of LSm protein complexes, which are involved in RNA processing and may function in a chaperone-like manner, facilitating the efficient association of RNA processing factors with their substrates. Component of the cytoplasmic LSM1-LSM7 complex, which is thought to be involved in mRNA degradation by activating the decapping step in the 5'-to-3' mRNA decay pathway (Probable). NA Belongs to the snRNP Sm proteins family. SmF/LSm6 subfamily. RNA degradation;Spliceosome;mRNA Splicing - Major Pathway;mRNA decay by 5' to 3' exoribonuclease PE1 4 +NX_P62314 Small nuclear ribonucleoprotein Sm D1 119 13282 11.56 0 Cytosol;Nucleus NA Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:23333303, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077). May act as a charged protein scaffold to promote snRNP assembly or strengthen snRNP-snRNP interactions through non-specific electrostatic contacts with RNA (Probable). Methylated on arginine residues by PRMT5 and PRMT7; probable asymmetric dimethylation which is required for assembly and biogenesis of snRNPs. Belongs to the snRNP core protein family. Spliceosome;Systemic lupus erythematosus;snRNP Assembly;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway PE1 18 +NX_P62316 Small nuclear ribonucleoprotein Sm D2 118 13527 9.92 0 Cytosol;Nucleus NA Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:23333303, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077). NA Belongs to the snRNP core protein family. Spliceosome;snRNP Assembly;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway PE1 19 +NX_P62318 Small nuclear ribonucleoprotein Sm D3 126 13916 10.33 0 Nucleoplasm;Cytosol;Nucleus NA Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077). As part of the U7 snRNP it is involved in histone pre-mRNA 3'-end processing (By similarity). Methylated on arginine residues by PRMT5 and PRMT7; probable asymmetric dimethylation which is required for assembly and biogenesis of snRNPs. Belongs to the snRNP core protein family. Spliceosome;Systemic lupus erythematosus;snRNP Assembly;SLBP independent Processing of Histone Pre-mRNAs;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 22 +NX_P62324 Protein BTG1 171 19209 8.35 0 Nucleoplasm;Cytosol NA Anti-proliferative protein. NA Belongs to the BTG family. RNA degradation;FOXO-mediated transcription of cell cycle genes PE1 12 +NX_P62328 Thymosin beta-4 44 5053 5.02 0 Cytoplasmic vesicle;Nucleoplasm;Cytosol;Cytoskeleton NA Seraspenide inhibits the entry of hematopoietic pluripotent stem cells into the S-phase.;Plays an important role in the organization of the cytoskeleton (By similarity). Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization. NA Belongs to the thymosin beta family. Regulation of actin cytoskeleton;Platelet degranulation PE1 X +NX_P62330 ADP-ribosylation factor 6 175 20082 9.04 0 Filopodium membrane;Cleavage furrow;Endosome membrane;Cell membrane;trans-Golgi network membrane;Early endosome membrane;Recycling endosome membrane;Ruffle;Cytosol;Midbody ring NA (Microbial infection) Functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase.;GTP-binding protein involved in protein trafficking that regulates endocytic recycling and cytoskeleton remodeling (PubMed:11266366, PubMed:21170023, PubMed:16737952, PubMed:7589240, PubMed:18400762). Required for normal completion of mitotic cytokinesis (By similarity). Plays a role in the reorganization of the actin cytoskeleton and the formation of stress fibers (By similarity). Involved in the regulation of dendritic spine development, contributing to the regulation of dendritic branching and filopodia extension (PubMed:14978216). Plays an important role in membrane trafficking, during junctional remodeling and epithelial polarization. Regulates surface levels of adherens junction proteins such as CDH1 (By similarity). Required for NTRK1 sorting to the recycling pathway from early endosomes (By similarity). NA Belongs to the small GTPase superfamily. Arf family. Endocytosis;Fc gamma R-mediated phagocytosis;Clathrin-mediated endocytosis;MET receptor recycling;TBC/RABGAPs PE1 14 +NX_P62333 26S proteasome regulatory subunit 10B 389 44173 7.09 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC6 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides. NA Belongs to the AAA ATPase family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 14 +NX_P62341 Thioredoxin reductase-like selenoprotein T 195 22324 8.79 1 Endoplasmic reticulum membrane NA Selenoprotein with thioredoxin reductase-like oxidoreductase activity (By similarity). Protects dopaminergic neurons against oxidative stress ans cell death (PubMed:26866473). Involved in ADCYAP1/PACAP-induced calcium mobilization and neuroendocrine secretion (By similarity). Plays a role in fibroblast anchorage and redox regulation (By similarity). In gastric smooth muscle, modulates the contraction processes through the regulation of calcium release and MYLK activation (By similarity). In pancreatic islets, involved in the control of glucose homeostasis, contributes to prolonged ADCYAP1/PACAP-induced insulin secretion (By similarity). May contain a selenide-sulfide bond between Cys-46 and Sec-49. This bond is speculated to serve as redox-active pair (By similarity). Belongs to the SelWTH family. Selenoprotein T subfamily. NA PE1 3 +NX_P62380 TATA box-binding protein-like protein 1 186 20887 9.61 0 Nucleus;Cytoplasm;Nucleoplasm;Nucleolus NA Part of a specialized transcription system that mediates the transcription of most ribosomal proteins through the 5'-TCT-3' motif which is a core promoter element at these genes. Seems to also mediate the transcription of NF1. Does not bind the TATA box. NA Belongs to the TBP family. Basal transcription factors;Huntington's disease;HTLV-I infection;Herpes simplex infection PE1 6 +NX_P62424 60S ribosomal protein L7a 266 29996 10.61 0 Cytoplasmic vesicle;Nucleolus NA NA NA Belongs to the eukaryotic ribosomal protein eL8 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 9 +NX_P62487 DNA-directed RNA polymerase II subunit RPB7 172 19294 5.33 0 Nucleoplasm;Nucleus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB7 is part of a subcomplex with RPB4 that binds to a pocket formed by RPB1, RPB2 and RPB6 at the base of the clamp element. The RBP4-RPB7 subcomplex seems to lock the clamp via RPB7 in the closed conformation thus preventing double-stranded DNA to enter the active site cleft. The RPB4-RPB7 subcomplex binds single-stranded DNA and RNA (By similarity). Binds RNA. NA Belongs to the eukaryotic RPB7/RPC8 RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Huntington's disease;Viral Messenger RNA Synthesis;Transcriptional regulation by small RNAs;PIWI-interacting RNA (piRNA) biogenesis;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;Processing of Capped Intron-Containing Pre-mRNA;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;MicroRNA (miRNA) biogenesis;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Activation of anterior HOX genes in hindbrain development during early embryogenesis;FGFR2 alternative splicing;RNA polymerase II transcribes snRNA genes;Signaling by FGFR2 IIIa TM;TP53 Regulates Transcription of DNA Repair Genes;Estrogen-dependent gene expression PE1 11 +NX_P62491 Ras-related protein Rab-11A 216 24394 6.12 0 Golgi apparatus;Cleavage furrow;Cell membrane;Centriolar satellite;Cytoplasmic vesicle membrane;Recycling endosome membrane;Phagosome;Cytoplasmic vesicle NA The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. The small Rab GTPase RAB11A regulates endocytic recycling. Acts as a major regulator of membrane delivery during cytokinesis. Together with MYO5B and RAB8A participates in epithelial cell polarization. Together with RAB3IP, RAB8A, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis. Together with MYO5B participates in CFTR trafficking to the plasma membrane and TF (Transferrin) recycling in nonpolarized cells. Required in a complex with MYO5B and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Participates in the sorting and basolateral transport of CDH1 from the Golgi apparatus to the plasma membrane. Regulates the recycling of FCGRT (receptor of Fc region of monomeric Ig G) to basolateral membranes. May also play a role in melanosome transport and release from melanocytes. NA Belongs to the small GTPase superfamily. Rab family. Endocytosis;Endocrine and other factor-regulated calcium reabsorption;Vasopressin-regulated water reabsorption;Pancreatic secretion;Anchoring of the basal body to the plasma membrane;Translocation of SLC2A4 (GLUT4) to the plasma membrane;VxPx cargo-targeting to cilium;Vasopressin regulates renal water homeostasis via Aquaporins;TBC/RABGAPs;RAB geranylgeranylation PE1 15 +NX_P62495 Eukaryotic peptide chain release factor subunit 1 437 49031 5.51 0 Cytoplasm NA Directs the termination of nascent peptide synthesis (translation) in response to the termination codons UAA, UAG and UGA (PubMed:7990965, PubMed:24486019). Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Required for SHFL-mediated translation termination which inhibits programmed ribosomal frameshifting (-1PRF) of mRNA from viruses and cellular genes (PubMed:30682371). Methylated at Gln-185 by N6AMT1.;Hydroxylation at Lys-63 by JMJD4 promotes its translational termination efficiency. Belongs to the eukaryotic release factor 1 family. mRNA surveillance pathway;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Eukaryotic Translation Termination;Regulation of expression of SLITs and ROBOs PE1 5 +NX_P62502 Epididymal-specific lipocalin-6 163 18045 4.84 0 Secreted NA May play a role in male fertility. NA Belongs to the calycin superfamily. Lipocalin family. NA PE1 9 +NX_P62508 Estrogen-related receptor gamma 458 51306 6.04 0 Nucleoplasm;Nucleus NA Orphan receptor that acts as transcription activator in the absence of bound ligand. Binds specifically to an estrogen response element and activates reporter genes controlled by estrogen response elements (By similarity). Induces the expression of PERM1 in the skeletal muscle. Acetylated by PCAF/KAT2 (in vitro).;Sumoylation on Lys-40 is enhanced by phosphorylation at Ser-45 and represses transcriptional activity.;Phosphorylation on Ser-45 enhances sumoylation on Lys-40 thus repressing transcriptional activity. Belongs to the nuclear hormone receptor family. NR3 subfamily. Nuclear Receptor transcription pathway PE1 1 +NX_P62633 Cellular nucleic acid-binding protein 177 19463 8 0 Endoplasmic reticulum;Nucleoplasm;Cytosol;Cytoplasm Dystrophia myotonica 2 Single-stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved in sterol-mediated repression. Arginine methylation by PRMT1 in the Arg/Gly-rich region impedes RNA binding. NA NA PE1 3 +NX_P62683 Endogenous retrovirus group K member 21 Gag polyprotein 666 74000 8.86 0 Cell membrane NA The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution. Myristoylation is essential for retroviral assembly. Alteration of the glycine residue leads to a block in the budding of particles and an accumulation of Gag inside the cell (By similarity).;Specific enzymatic cleavages may yield mature proteins. Belongs to the beta type-B retroviral Gag protein family. HERV class-II K(HML-2) gag subfamily. NA PE1 12 +NX_P62684 Endogenous retrovirus group K member 113 Gag polyprotein 666 74038 8.95 0 Cell membrane NA The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution. Specific enzymatic cleavages may yield mature proteins.;Myristoylation is essential for retroviral assembly. Alteration of the glycine residue leads to a block in the budding of particles and an accumulation of Gag inside the cell (By similarity). Belongs to the beta type-B retroviral Gag protein family. HERV class-II K(HML-2) gag subfamily. NA PE1 19 +NX_P62685 Endogenous retrovirus group K member 8 Gag polyprotein 647 72181 8.88 0 Cell membrane NA The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution. Specific enzymatic cleavages may yield mature proteins.;Myristoylation is essential for retroviral assembly. Alteration of the glycine residue leads to a block in the budding of particles and an accumulation of Gag inside the cell (By similarity). Belongs to the beta type-B retroviral Gag protein family. HERV class-II K(HML-2) gag subfamily. NA PE1 8 +NX_P62699 Protein yippee-like 5 121 13842 6.82 0 Nucleus;Nucleoplasm;Spindle pole;Centrosome;Cytosol;Midbody NA Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Required for normal cell proliferation (By similarity). NA Belongs to the yippee family. Neutrophil degranulation PE1 2 +NX_P62701 40S ribosomal protein S4, X isoform 263 29598 10.16 0 Cytoplasm;Nucleus;Nucleolus NA NA NA Belongs to the eukaryotic ribosomal protein eS4 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 X +NX_P62714 Serine/threonine-protein phosphatase 2A catalytic subunit beta isoform 309 35575 5.21 0 Cytoplasm;Nucleoplasm;Spindle pole;Centromere;Nucleus NA PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase. Phosphorylation of either threonine (by autophosphorylation-activated protein kinase) or tyrosine results in inactivation of the phosphatase. Auto-dephosphorylation has been suggested as a mechanism for reactivation.;May be monoubiquitinated by NOSIP.;Reversibly methyl esterified on Leu-309 by leucine carboxyl methyltransferase 1 (LCMT1) and protein phosphatase methylesterase 1 (PPME1). Carboxyl methylation influences the affinity of the catalytic subunit for the different regulatory subunits, thereby modulating the PP2A holoenzyme's substrate specificity, enzyme activity and cellular localization. Belongs to the PPP phosphatase family. PP-1 subfamily. mRNA surveillance pathway;Oocyte meiosis;Wnt signaling pathway;TGF-beta signaling pathway;Tight junction;Dopaminergic synapse;Long-term depression;Chagas disease (American trypanosomiasis);Hepatitis C;Degradation of beta-catenin by the destruction complex;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Negative regulation of MAPK pathway;Cyclin A/B1/B2 associated events during G2/M transition;MASTL Facilitates Mitotic Progression;RAF activation;DARPP-32 events;Disassembly of the destruction complex and recruitment of AXIN to the membrane;Inhibition of replication initiation of damaged DNA by RB1/E2F1;Cyclin D associated events in G1;CTLA4 inhibitory signaling;Beta-catenin phosphorylation cascade;Misspliced GSK3beta mutants stabilize beta-catenin;S33 mutants of beta-catenin aren't phosphorylated;S37 mutants of beta-catenin aren't phosphorylated;S45 mutants of beta-catenin aren't phosphorylated;T41 mutants of beta-catenin aren't phosphorylated;APC truncation mutants have impaired AXIN binding;AXIN missense mutants destabilize the destruction complex;Truncations of AMER1 destabilize the destruction complex;Spry regulation of FGF signaling;Platelet sensitization by LDL;ERK/MAPK targets;Integration of energy metabolism;PP2A-mediated dephosphorylation of key metabolic factors;ERKs are inactivated;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Regulation of TP53 Degradation;Regulation of glycolysis by fructose 2,6-bisphosphate metabolism PE1 8 +NX_P62736 Actin, aortic smooth muscle 377 42009 5.24 0 Cytoskeleton Aortic aneurysm, familial thoracic 6;Multisystemic smooth muscle dysfunction syndrome;Moyamoya disease 5 Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. Methylated at His-75 by SETD3.;(Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-52 of one monomer and Glu-272 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148).;Oxidation of Met-46 and Met-49 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promotes actin repolymerization.;Monomethylation at Lys-86 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration. Belongs to the actin family. Vascular smooth muscle contraction;Smooth Muscle Contraction;NOTCH4 Intracellular Domain Regulates Transcription PE1 10 +NX_P62745 Rho-related GTP-binding protein RhoB 196 22123 5.1 0 Nucleus;Cleavage furrow;Late endosome membrane;Cell membrane NA Mediates apoptosis in neoplastically transformed cells after DNA damage. Not essential for development but affects cell adhesion and growth factor signaling in transformed cells. Plays a negative role in tumorigenesis as deletion causes tumor formation. Involved in intracellular protein trafficking of a number of proteins. Targets PKN1 to endosomes and is involved in trafficking of the EGF receptor from late endosomes to lysosomes. Also required for stability and nuclear trafficking of AKT1/AKT which promotes endothelial cell survival during vascular development. Serves as a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Required for genotoxic stress-induced cell death in breast cancer cells. (Microbial infection) Glycosylated at Tyr-34 by Photorhabdus asymbiotica toxin PAU_02230. Mono-O-GlcNAcylation by PAU_02230 inhibits downstream signaling by an impaired interaction with diverse regulator and effector proteins of Rho and leads to actin disassembly.;Prenylation specifies the subcellular location of RHOB. The farnesylated form is localized to the plasma membrane while the geranylgeranylated form is localized to the endosome. Belongs to the small GTPase superfamily. Rho family. RHO GTPases Activate Rhotekin and Rhophilins;RHO GTPases Activate Formins;GPVI-mediated activation cascade;Rho GTPase cycle;G alpha (12/13) signalling events;RHO GTPases activate PKNs;Sema4D induced cell migration and growth-cone collapse;RHO GTPases activate CIT;RHO GTPases Activate ROCKs PE1 2 +NX_P62750 60S ribosomal protein L23a 156 17695 10.44 0 Endoplasmic reticulum;Nucleus;Nucleolus;Cytosol NA Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Binds a specific region on the 26S rRNA. May promote p53/TP53 degradation possibly through the stimulation of MDM2-mediated TP53 polyubiquitination (PubMed:26203195). Citrullinated by PADI4.;N-terminus is methylated by METTL11A/NTM1. Belongs to the universal ribosomal protein uL23 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 17 +NX_P62753 40S ribosomal protein S6 249 28681 10.85 0 Endoplasmic reticulum;Nucleolus;Nucleus;Cytosol NA May play an important role in controlling cell growth and proliferation through the selective translation of particular classes of mRNA. Ribosomal protein S6 is the major substrate of protein kinases in eukaryote ribosomes. The phosphorylation is stimulated by growth factors, tumor promoting agents, and mitogens. It is dephosphorylated at growth arrest. Phosphorylated at Ser-235 and Ser-236 by RPS6KA1 and RPS6KA3; phosphorylation at these sites facilitates the assembly of the preinitiation complex.;Specifically hydroxylated (with R stereochemistry) at C-3 of Arg-137 by KDM8.;RPS6 is phosphorylated by RPS6KB2 (Phosphoserine:PTM-0253) Belongs to the eukaryotic ribosomal protein eS6 family. Ribosome;mTOR signaling pathway;Insulin signaling pathway;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;mTORC1-mediated signalling;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 9 +NX_P62760 Visinin-like protein 1 191 22142 5.01 0 NA NA Regulates (in vitro) the inhibition of rhodopsin phosphorylation in a calcium-dependent manner. NA Belongs to the recoverin family. NA PE1 2 +NX_P62805 Histone H4 103 11367 11.36 0 Nucleoplasm;Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Sumoylated, which is associated with transcriptional repression.;Butyrylation of histones marks active promoters and competes with histone acetylation.;Monomethylated, dimethylated or trimethylated at Lys-21 (H4K20me1, H4K20me2, H4K20me3). Monomethylation is performed by SET8. Trimethylation is performed by KMT5B and KMT5C and induces gene silencing.;Citrullination at Arg-4 (H4R3ci) by PADI4 impairs methylation.;Phosphorylated by PAK2 at Ser-48 (H4S47ph). This phosphorylation increases the association of H3.3-H4 with the histone chaperone HIRA, thus promoting nucleosome assembly of H3.3-H4 and inhibiting nucleosome assembly of H3.1-H4.;Acetylation at Lys-6 (H4K5ac), Lys-9 (H4K8ac), Lys-13 (H4K12ac) and Lys-17 (H4K16ac) occurs in coding regions of the genome but not in heterochromatin.;Monomethylation and asymmetric dimethylation at Arg-4 (H4R3me1 and H4R3me2a, respectively) by PRMT1 favors acetylation at Lys-9 (H4K8ac) and Lys-13 (H4K12ac). Demethylation is performed by JMJD6. Symmetric dimethylation on Arg-4 (H4R3me2s) by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Ubiquitinated by the CUL4-DDB-RBX1 complex in response to ultraviolet irradiation. This may weaken the interaction between histones and DNA and facilitate DNA accessibility to repair proteins. Monoubiquitinated at Lys-92 of histone H4 (H4K91ub1) in response to DNA damage. The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post-translational modifications such as H4 Lys-21 methylation (H4K20me).;HIST1H4A is phosphorylated by DAPK3 (Phosphothreonine:PTM-0254) Belongs to the histone H4 family. Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Transcriptional regulation by small RNAs;PKMTs methylate histone lysines;RMTs methylate histone arginines;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;G2/M DNA damage checkpoint;HDMs demethylate histones;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;SUMOylation of chromatin organization proteins;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 12 +NX_P62807 Histone H2B type 1-C/E/F/G/I 126 13906 10.31 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.;Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid. Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes.;Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons.;Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination. Belongs to the histone H2B family. Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Transcriptional regulation by small RNAs;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;G2/M DNA damage checkpoint;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Ub-specific processing proteases;E3 ubiquitin ligases ubiquitinate target proteins;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 6 +NX_P62820 Ras-related protein Rab-1A 205 22678 5.93 0 Cytoplasm;Golgi apparatus;Early endosome;Membrane;Endoplasmic reticulum;Melanosome;Cytosol NA The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB1A regulates vesicular protein transport from the endoplasmic reticulum (ER) to the Golgi compartment and on to the cell surface, and plays a role in IL-8 and growth hormone secretion. Regulates the level of CASR present at the cell membrane. Plays a role in cell adhesion and cell migration, via its role in protein trafficking. Plays a role in autophagosome assembly and cellular defense reactions against pathogenic bacteria. Plays a role in microtubule-dependent protein transport by early endosomes and in anterograde melanosome transport. Phosphorylated by CDK1 kinase during mitosis.;Phosphocholinated at Ser-79 by L.pneumophila AnkX, leading to displace GDP dissociation inhibitors (GDI). Both GDP-bound and GTP-bound forms can be phosphocholinated. Dephosphocholinated by L.pneumophila Lem3, restoring accessibility to L.pneumophila GTPase effector LepB. Belongs to the small GTPase superfamily. Rab family. Legionellosis;Golgi Cisternae Pericentriolar Stack Reorganization;COPII-mediated vesicle transport;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 2 +NX_P62826 GTP-binding nuclear protein Ran 216 24423 7.01 0 Cytoplasm;Nucleoplasm;Nucleus envelope;Melanosome;Cytosol;Nucleus NA GTPase involved in nucleocytoplasmic transport, participating both to the import and the export from the nucleus of proteins and RNAs (PubMed:10400640, PubMed:8276887, PubMed:8896452, PubMed:8636225, PubMed:8692944, PubMed:9351834, PubMed:9428644, PubMed:9822603, PubMed:26272610). Switches between a cytoplasmic GDP- and a nuclear GTP-bound state by nucleotide exchange and GTP hydrolysis (PubMed:7819259, PubMed:8896452, PubMed:8636225, PubMed:8692944, PubMed:9351834, PubMed:9428644, PubMed:9822603, PubMed:29040603, PubMed:11336674, PubMed:26272610). Nuclear import receptors such as importin beta bind their substrates only in the absence of GTP-bound RAN and release them upon direct interaction with GTP-bound RAN, while export receptors behave in the opposite way. Thereby, RAN controls cargo loading and release by transport receptors in the proper compartment and ensures the directionality of the transport (PubMed:8896452, PubMed:9351834, PubMed:9428644). Interaction with RANBP1 induces a conformation change in the complex formed by XPO1 and RAN that triggers the release of the nuclear export signal of cargo proteins (PubMed:20485264). RAN (GTP-bound form) triggers microtubule assembly at mitotic chromosomes and is required for normal mitotic spindle assembly and chromosome segregation (PubMed:10408446, PubMed:29040603). Required for normal progress through mitosis (PubMed:8421051, PubMed:12194828, PubMed:29040603). The complex with BIRC5/survivin plays a role in mitotic spindle formation by serving as a physical scaffold to help deliver the RAN effector molecule TPX2 to microtubules (PubMed:18591255). Acts as a negative regulator of the kinase activity of VRK1 and VRK2 (PubMed:18617507). Enhances AR-mediated transactivation. Transactivation decreases as the poly-Gln length within AR increases (PubMed:10400640). Acetylation by KAT5 at Lys-134 is increased during mitosis, impairs RANGRF binding and enhances RCC1 binding. Belongs to the small GTPase superfamily. Ran family. Ribosome biogenesis in eukaryotes;RNA transport;HTLV-I infection;Rev-mediated nuclear export of HIV RNA;Nuclear import of Rev protein;Transcriptional regulation by small RNAs;MicroRNA (miRNA) biogenesis;Regulation of cholesterol biosynthesis by SREBP (SREBF);NEP/NS2 Interacts with the Cellular Export Machinery;tRNA processing in the nucleus PE1 12 +NX_P62829 60S ribosomal protein L23 140 14865 10.51 0 Cytoplasm;Cytosol NA NA NA Belongs to the universal ribosomal protein uL14 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 17 +NX_P62834 Ras-related protein Rap-1A 184 20987 6.39 0 Cytoplasm;Cell membrane;Early endosome;Cell junction;Perinuclear region NA Induces morphological reversion of a cell line transformed by a Ras oncogene. Counteracts the mitogenic function of Ras, at least partly because it can interact with Ras GAPs and RAF in a competitive manner. Together with ITGB1BP1, regulates KRIT1 localization to microtubules and membranes. Plays a role in nerve growth factor (NGF)-induced neurite outgrowth. Plays a role in the regulation of embryonic blood vessel formation. Involved in the establishment of basal endothelial barrier function. May be involved in the regulation of the vascular endothelial growth factor receptor KDR expression at endothelial cell-cell junctions. NA Belongs to the small GTPase superfamily. Ras family. MAPK signaling pathway;Chemokine signaling pathway;Focal adhesion;Leukocyte transendothelial migration;Long-term potentiation;Neurotrophin signaling pathway;Pancreatic secretion;Renal cell carcinoma;MAP2K and MAPK activation;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;ARMS-mediated activation;Integrin alphaIIb beta3 signaling;Frs2-mediated activation;Rap1 signalling;GRB2:SOS provides linkage to MAPK signaling for Integrins;p130Cas linkage to MAPK signaling for integrins;Neutrophil degranulation;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;MET activates RAP1 and RAC1 PE1 1 +NX_P62837 Ubiquitin-conjugating enzyme E2 D2 147 16735 7.69 0 NA NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-linked polyubiquitination. Mediates the selective degradation of short-lived and abnormal proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Mediates ubiquitination of PEX5 and autoubiquitination of STUB1 and TRAF6. Involved in the signal-induced conjugation and subsequent degradation of NFKBIA, FBXW2-mediated GCM1 ubiquitination and degradation, MDM2-dependent degradation of p53/TP53 and the activation of MAVS in the mitochondria by DDX58/RIG-I in response to viral infection. Essential for viral activation of IRF3. NA Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;Shigellosis;FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Negative regulators of DDX58/IFIH1 signaling;IKK complex recruitment mediated by RIP1;Synthesis of active ubiquitin: roles of E1 and E2 enzymes;E3 ubiquitin ligases ubiquitinate target proteins;Neddylation;TICAM1, RIP1-mediated IKK complex recruitment;Peroxisomal protein import PE1 5 +NX_P62841 40S ribosomal protein S15 145 17040 10.39 0 Cytoplasm;Nucleolus;Endoplasmic reticulum;Cytosol;Nucleus NA NA NA Belongs to the universal ribosomal protein uS19 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 19 +NX_P62847 40S ribosomal protein S24 133 15423 10.79 0 Endoplasmic reticulum;Cytosol;Nucleus Diamond-Blackfan anemia 3 Required for processing of pre-rRNA and maturation of 40S ribosomal subunits. NA Belongs to the eukaryotic ribosomal protein eS24 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 10 +NX_P62851 40S ribosomal protein S25 125 13742 10.12 0 Endoplasmic reticulum;Cytoplasm;Cytosol NA NA NA Belongs to the eukaryotic ribosomal protein eS25 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 11 +NX_P62854 40S ribosomal protein S26 115 13015 11.01 0 Cytoplasm;Cytosol;Rough endoplasmic reticulum Diamond-Blackfan anemia 10 NA NA Belongs to the eukaryotic ribosomal protein eS26 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 12 +NX_P62857 40S ribosomal protein S28 69 7841 10.7 0 Cytoplasm;Cytosol;Rough endoplasmic reticulum Diamond-Blackfan anemia 15, with mandibulofacial dysostosis NA NA Belongs to the eukaryotic ribosomal protein eS28 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 19 +NX_P62861 40S ribosomal protein S30 59 6648 12.15 0 Endoplasmic reticulum;Nucleolus;Nucleus;Cytosol NA NA NA Belongs to the eukaryotic ribosomal protein eS30 family. Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 11 +NX_P62873 Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 340 37377 5.6 0 NA Mental retardation, autosomal dominant 42 Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. Phosphorylation at His-266 by NDKB contributes to G protein activation by increasing the high energetic phosphate transfer onto GDP. Belongs to the WD repeat G protein beta family. Chemokine signaling pathway;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Taste transduction;Phototransduction;G alpha (i) signalling events;Olfactory Signaling Pathway;G alpha (q) signalling events;G alpha (s) signalling events;G beta:gamma signalling through PI3Kgamma;G alpha (12/13) signalling events;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Activation of the phototransduction cascade;Inactivation, recovery and regulation of the phototransduction cascade;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G-protein activation;ADP signalling through P2Y purinoceptor 12;Prostacyclin signalling through prostacyclin receptor;Adrenaline,noradrenaline inhibits insulin secretion;Ca2+ pathway;G beta:gamma signalling through PLC beta;ADP signalling through P2Y purinoceptor 1;G alpha (z) signalling events;Glucagon-type ligand receptors;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Presynaptic function of Kainate receptors;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling;G beta:gamma signalling through BTK;G beta:gamma signalling through CDC42 PE1 1 +NX_P62875 DNA-directed RNA polymerases I, II, and III subunit RPABC5 67 7645 7.65 0 Nucleus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and a small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2L/RBP10 is part of the core element with the central large cleft (By similarity). NA Belongs to the archaeal RpoN/eukaryotic RPB10 RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Cytosolic DNA-sensing pathway;Huntington's disease;Viral Messenger RNA Synthesis;Transcriptional regulation by small RNAs;PIWI-interacting RNA (piRNA) biogenesis;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;Processing of Capped Intron-Containing Pre-mRNA;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;Cytosolic sensors of pathogen-associated DNA;MicroRNA (miRNA) biogenesis;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase II Transcription Elongation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;FGFR2 alternative splicing;RNA polymerase II transcribes snRNA genes;Signaling by FGFR2 IIIa TM;TP53 Regulates Transcription of DNA Repair Genes;Estrogen-dependent gene expression PE1 11 +NX_P62877 E3 ubiquitin-protein ligase RBX1 108 12274 6.49 0 Cytoplasm;Nucleoplasm;Nucleus NA E3 ubiquitin ligase component of multiple cullin-RING-based E3 ubiquitin-protein ligase (CRLs) complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins, including proteins involved in cell cycle progression, signal transduction, transcription and transcription-coupled nucleotide excision repair (PubMed:10230407, PubMed:10579999, PubMed:15983046, PubMed:16678110, PubMed:19112177, PubMed:19679664, PubMed:23455478, PubMed:27565346, PubMed:29769719, PubMed:11961546, PubMed:22748924). CRLs complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins, ARIH1 mediating addition of the first ubiquitin on CRLs targets (PubMed:27565346). The functional specificity of the E3 ubiquitin-protein ligase complexes depends on the variable substrate recognition components. As a component of the CSA complex promotes the ubiquitination of ERCC6 resulting in proteasomal degradation. Recruits the E2 ubiquitin-conjugating enzyme CDC34 to the complex and brings it into close proximity to the substrate. Probably also stimulates CDC34 autoubiquitination. May be required for histone H3 and histone H4 ubiquitination in response to ultraviolet and for subsequent DNA repair. Promotes the neddylation of CUL1, CUL2, CUL4 and CUL4 via its interaction with UBE2M. Involved in the ubiquitination of KEAP1, ENC1 and KLHL41. In concert with ATF2 and CUL3, promotes degradation of KAT5 thereby attenuating its ability to acetylate and activate ATM. NA Belongs to the RING-box family. Protein modification; protein ubiquitination.;Nucleotide excision repair;Cell cycle;Oocyte meiosis;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;Wnt signaling pathway;TGF-beta signaling pathway;Circadian rhythm - mammal;Pathways in cancer;Renal cell carcinoma;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Degradation of DVL;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;Orc1 removal from chromatin;Antigen processing: Ubiquitination & Proteasome degradation;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Prolactin receptor signaling;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Recognition of DNA damage by PCNA-containing replication complex;Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;DNA Damage Recognition in GG-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX2 expression and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling PE1 22 +NX_P62879 Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2 340 37331 5.6 0 Perinuclear region NA Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. NA Belongs to the WD repeat G protein beta family. Chemokine signaling pathway;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;G alpha (i) signalling events;G alpha (q) signalling events;G alpha (s) signalling events;G beta:gamma signalling through PI3Kgamma;G alpha (12/13) signalling events;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G-protein activation;ADP signalling through P2Y purinoceptor 12;Prostacyclin signalling through prostacyclin receptor;Adrenaline,noradrenaline inhibits insulin secretion;Ca2+ pathway;G beta:gamma signalling through PLC beta;ADP signalling through P2Y purinoceptor 1;G alpha (z) signalling events;Glucagon-type ligand receptors;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Presynaptic function of Kainate receptors;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling;G beta:gamma signalling through BTK;G beta:gamma signalling through CDC42 PE1 7 +NX_P62888 60S ribosomal protein L30 115 12784 9.65 0 Endoplasmic reticulum;Cytoplasm;Cytosol;Nucleolus NA NA NA Belongs to the eukaryotic ribosomal protein eL30 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 8 +NX_P62891 60S ribosomal protein L39 51 6407 12.55 0 NA NA NA NA Belongs to the eukaryotic ribosomal protein eL39 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 X +NX_P62899 60S ribosomal protein L31 125 14463 10.54 0 NA NA NA NA Belongs to the eukaryotic ribosomal protein eL31 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 2 +NX_P62906 60S ribosomal protein L10a 217 24831 9.94 0 Endoplasmic reticulum;Cytosol;Nucleolus NA Component of the large ribosomal subunit. NA Belongs to the universal ribosomal protein uL1 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 6 +NX_P62910 60S ribosomal protein L32 135 15860 11.32 0 Endoplasmic reticulum;Cytoplasm;Cytosol NA NA NA Belongs to the eukaryotic ribosomal protein eL32 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 3 +NX_P62913 60S ribosomal protein L11 178 20252 9.64 0 Cytoplasm;Nucleolus;Cytoplasmic vesicle Diamond-Blackfan anemia 7 Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel. As part of the 5S RNP/5S ribonucleoprotein particle it is an essential component of the LSU, required for its formation and the maturation of rRNAs (PubMed:19061985, PubMed:12962325, PubMed:24120868). It also couples ribosome biogenesis to p53/TP53 activation. As part of the 5S RNP it accumulates in the nucleoplasm and inhibits MDM2, when ribosome biogenesis is perturbed, mediating the stabilization and the activation of TP53 (PubMed:24120868). Promotes nucleolar location of PML (By similarity). NA Belongs to the universal ribosomal protein uL5 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 1 +NX_P62917 60S ribosomal protein L8 257 28025 11.04 0 Cytoplasm;Nucleolus;Endoplasmic reticulum;Cytosol;Nucleus NA Component of the large ribosomal subunit. Hydroxylated on His-216 by RIOX1. The modification is impaired by hypoxia. Belongs to the universal ribosomal protein uL2 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 8 +NX_P62937 Peptidyl-prolyl cis-trans isomerase A 165 18012 7.68 0 Cytoplasm;Secreted NA PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Acetylation at Lys-125 markedly inhibits catalysis of cis to trans isomerization and stabilizes cis rather than trans forms of the HIV-1 capsid. PPIA acetylation also antagonizes the immunosuppressive effects of cyclosporine by inhibiting the sequential steps of cyclosporine binding and calcineurin inhibition. Belongs to the cyclophilin-type PPIase family. PPIase A subfamily. Integration of provirus;Budding and maturation of HIV virion;Platelet degranulation;Basigin interactions;Assembly Of The HIV Virion;APOBEC3G mediated resistance to HIV-1 infection;Binding and entry of HIV virion;Uncoating of the HIV Virion;Early Phase of HIV Life Cycle;Minus-strand DNA synthesis;Plus-strand DNA synthesis;Neutrophil degranulation;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation;Calcineurin activates NFAT PE1 7 +NX_P62942 Peptidyl-prolyl cis-trans isomerase FKBP1A 108 11951 7.89 0 Cytosol;Sarcoplasmic reticulum membrane NA Keeps in an inactive conformation TGFBR1, the TGF-beta type I serine/threonine kinase receptor, preventing TGF-beta receptor activation in absence of ligand. Recruits SMAD7 to ACVR1B which prevents the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. May modulate the RYR1 calcium channel activity. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. NA Belongs to the FKBP-type PPIase family. FKBP1 subfamily. TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition);TGF-beta receptor signaling activates SMADs;TGFBR1 LBD Mutants in Cancer;Calcineurin activates NFAT PE1 20 +NX_P62945 60S ribosomal protein L41 25 3456 12.96 0 Endoplasmic reticulum;Cytoplasm;Nucleus;Nucleolus NA Interacts with the beta subunit of protein kinase CKII and stimulates phosphorylation of DNA topoisomerase II alpha by CKII. NA Belongs to the eukaryotic ribosomal protein eL41 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 12 +NX_P62952 Bladder cancer-associated protein 87 9876 6.21 2 Membrane;Nucleolus NA May regulate cell proliferation and coordinate apoptosis and cell cycle progression via a novel mechanism independent of both p53/TP53 and NF-kappa-B. NA Belongs to the BLCAP family. NA PE1 20 +NX_P62955 Voltage-dependent calcium channel gamma-7 subunit 275 31003 6.65 4 Cell membrane NA Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (PubMed:21127204). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity only for GRIA1 and GRIA2 (PubMed:21172611). NA Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. MAPK signaling pathway;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 19 +NX_P62979 Ubiquitin-40S ribosomal protein S27a 156 17965 9.68 0 Cytoplasm;Nucleolus;Endoplasmic reticulum;Cytosol;Nucleus NA 40S Ribosomal protein S27a: Component of the 40S subunit of the ribosome.;Ubiquitin: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in lysosomal degradation; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling. Ubiquitin: Mono-ADP-ribosylated at the C-terminus by PARP9, a component of the PPAR9-DTX3L complex. ADP-ribosylation requires processing by E1 and E2 enzymes and prevents ubiquitin conjugation to substrates such as histones.;Ubiquitin: Phosphorylated at Ser-65 by PINK1 during mitophagy. Phosphorylated ubiquitin specifically binds and activates parkin (PRKN), triggering mitophagy (PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:25527291). Phosphorylation does not affect E1-mediated E2 charging of ubiquitin but affects discharging of E2 enzymes to form polyubiquitin chains. It also affects deubiquitination by deubiquitinase enzymes such as USP30 (PubMed:25527291). In the N-terminal section; belongs to the ubiquitin family.;In the C-terminal section; belongs to the eukaryotic ribosomal protein eS31 family. Ribosome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;ISG15 antiviral mechanism;Translesion Synthesis by POLH;Regulation of PLK1 Activity at G2/M Transition;TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition);Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Downregulation of SMAD2/3:SMAD4 transcriptional activity;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);NOD1/2 Signaling Pathway;Oxidative Stress Induced Senescence;activated TAK1 mediates p38 MAPK activation;Stimuli-sensing channels;Senescence-Associated Secretory Phenotype (SASP);Amyloid fiber formation;p75NTR recruits signalling complexes;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;Budding and maturation of HIV virion;Membrane binding and targetting of GAG proteins;Endosomal Sorting Complex Required For Transport (ESCRT);Negative regulation of MAPK pathway;Circadian Clock;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;EGFR downregulation;TCF dependent signaling in response to WNT;Iron uptake and transport;APC/C:Cdc20 mediated degradation of Cyclin B;APC-Cdc20 mediated degradation of Nek2A;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Negative regulators of DDX58/IFIH1 signaling;Downregulation of TGF-beta receptor signaling;Deactivation of the beta-catenin transactivating complex;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Oncogene Induced Senescence;Glycogen synthesis;Myoclonic epilepsy of Lafora;Translesion synthesis by POLI;Termination of translesion DNA synthesis;Translesion synthesis by REV1;Translesion synthesis by POLK;Regulation of FZD by ubiquitination;Regulation of innate immune responses to cytosolic DNA;ER Quality Control Compartment (ERQC);Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;Activated NOTCH1 Transmits Signal to the Nucleus;IKK complex recruitment mediated by RIP1;TRAF6-mediated induction of TAK1 complex within TLR4 complex;Cyclin D associated events in G1;Regulation of signaling by CBL;ABC-family proteins mediated transport;IRAK1 recruits IKK complex;IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation;Constitutive Signaling by NOTCH1 HD Domain Mutants;NOTCH2 Activation and Transmission of Signal to the Nucleus;Spry regulation of FGF signaling;Downregulation of ERBB4 signaling;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;IRAK2 mediated activation of TAK1 complex;IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation;Recognition of DNA damage by PCNA-containing replication complex;Downregulation of ERBB2:ERBB3 signaling;NF-kB is activated and signals survival;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Assembly Of The HIV Virion;NRIF signals cell death from the nucleus;Regulation of necroptotic cell death;Defective CFTR causes cystic fibrosis;Stabilization of p53;N-glycan trimming in the ER and Calnexin/Calreticulin cycle;Pink/Parkin Mediated Mitophagy;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;HDR through Homologous Recombination (HRR);Processing of DNA double-strand break ends;DNA Damage Recognition in GG-NER;Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;MAP3K8 (TPL2)-dependent MAPK1/3 activation;Formation of Incision Complex in GG-NER;Fanconi Anemia Pathway;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;Major pathway of rRNA processing in the nucleolus and cytosol;PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1;Regulation of TP53 Activity through Phosphorylation;Selenocysteine synthesis;Regulation of TP53 Degradation;Regulation of TP53 Activity through Methylation;UCH proteinases;Ub-specific processing proteases;Ovarian tumor domain proteases;Josephin domain DUBs;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Metalloprotease DUBs;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Negative regulation of MET activity;Downregulation of ERBB2 signaling;Synthesis of active ubiquitin: roles of E1 and E2 enzymes;E3 ubiquitin ligases ubiquitinate target proteins;InlB-mediated entry of Listeria monocytogenes into host cell;InlA-mediated entry of Listeria monocytogenes into host cells;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;TICAM1, RIP1-mediated IKK complex recruitment;Regulation of PTEN localization;TICAM1-dependent activation of IRF3/IRF7;TICAM1,TRAF6-dependent induction of TAK1 complex;Interleukin-1 signaling;NOTCH3 Activation and Transmission of Signal to the Nucleus;Peroxisomal protein import;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 2 +NX_P62987 Ubiquitin-60S ribosomal protein L40 128 14728 9.87 0 Cytoplasm;Cell membrane;Endoplasmic reticulum;Nucleoplasm;Cytosol;Nucleus NA 60S ribosomal protein L40: Component of the 60S subunit of the ribosome. Ribosomal protein L40 is essential for translation of a subset of cellular transcripts, and especially for cap-dependent translation of vesicular stomatitis virus mRNAs.;Ubiquitin: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in lysosomal degradation; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling. Ubiquitin: Mono-ADP-ribosylated at the C-terminus by PARP9, a component of the PPAR9-DTX3L complex. ADP-ribosylation requires processing by E1 and E2 enzymes and prevents ubiquitin conjugation to substrates such as histones.;Ubiquitin: Phosphorylated at Ser-65 by PINK1 during mitophagy. Phosphorylated ubiquitin specifically binds and activates parkin (PRKN), triggering mitophagy (PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:25527291). Phosphorylation does not affect E1-mediated E2 charging of ubiquitin but affects discharging of E2 enzymes to form polyubiquitin chains. It also affects deubiquitination by deubiquitinase enzymes such as USP30 (PubMed:25527291). In the N-terminal section; belongs to the ubiquitin family.;In the C-terminal section; belongs to the eukaryotic ribosomal protein eL40 family. Ribosome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;ISG15 antiviral mechanism;Translesion Synthesis by POLH;Regulation of PLK1 Activity at G2/M Transition;TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition);Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Downregulation of SMAD2/3:SMAD4 transcriptional activity;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);NOD1/2 Signaling Pathway;Oxidative Stress Induced Senescence;activated TAK1 mediates p38 MAPK activation;Stimuli-sensing channels;Senescence-Associated Secretory Phenotype (SASP);Amyloid fiber formation;p75NTR recruits signalling complexes;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;Budding and maturation of HIV virion;Membrane binding and targetting of GAG proteins;Endosomal Sorting Complex Required For Transport (ESCRT);Negative regulation of MAPK pathway;Circadian Clock;L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;EGFR downregulation;TCF dependent signaling in response to WNT;Iron uptake and transport;APC/C:Cdc20 mediated degradation of Cyclin B;APC-Cdc20 mediated degradation of Nek2A;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Negative regulators of DDX58/IFIH1 signaling;Downregulation of TGF-beta receptor signaling;Deactivation of the beta-catenin transactivating complex;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Oncogene Induced Senescence;Glycogen synthesis;Myoclonic epilepsy of Lafora;Translesion synthesis by POLI;Termination of translesion DNA synthesis;Translesion synthesis by REV1;Translesion synthesis by POLK;Regulation of FZD by ubiquitination;Regulation of innate immune responses to cytosolic DNA;ER Quality Control Compartment (ERQC);Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;Activated NOTCH1 Transmits Signal to the Nucleus;IKK complex recruitment mediated by RIP1;TRAF6-mediated induction of TAK1 complex within TLR4 complex;Cyclin D associated events in G1;Regulation of signaling by CBL;ABC-family proteins mediated transport;IRAK1 recruits IKK complex;IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation;Constitutive Signaling by NOTCH1 HD Domain Mutants;NOTCH2 Activation and Transmission of Signal to the Nucleus;Spry regulation of FGF signaling;Downregulation of ERBB4 signaling;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;IRAK2 mediated activation of TAK1 complex;IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation;Recognition of DNA damage by PCNA-containing replication complex;Downregulation of ERBB2:ERBB3 signaling;NF-kB is activated and signals survival;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Assembly Of The HIV Virion;NRIF signals cell death from the nucleus;Regulation of necroptotic cell death;Defective CFTR causes cystic fibrosis;Stabilization of p53;N-glycan trimming in the ER and Calnexin/Calreticulin cycle;Pink/Parkin Mediated Mitophagy;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;HDR through Homologous Recombination (HRR);Processing of DNA double-strand break ends;DNA Damage Recognition in GG-NER;Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;MAP3K8 (TPL2)-dependent MAPK1/3 activation;Formation of Incision Complex in GG-NER;Fanconi Anemia Pathway;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;Major pathway of rRNA processing in the nucleolus and cytosol;PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1;Regulation of TP53 Activity through Phosphorylation;Selenocysteine synthesis;Regulation of TP53 Degradation;Regulation of TP53 Activity through Methylation;UCH proteinases;Ub-specific processing proteases;Ovarian tumor domain proteases;Josephin domain DUBs;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Metalloprotease DUBs;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Negative regulation of MET activity;Downregulation of ERBB2 signaling;Synthesis of active ubiquitin: roles of E1 and E2 enzymes;E3 ubiquitin ligases ubiquitinate target proteins;InlB-mediated entry of Listeria monocytogenes into host cell;InlA-mediated entry of Listeria monocytogenes into host cells;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;TICAM1, RIP1-mediated IKK complex recruitment;Regulation of PTEN localization;TICAM1-dependent activation of IRF3/IRF7;TICAM1,TRAF6-dependent induction of TAK1 complex;Interleukin-1 signaling;NOTCH3 Activation and Transmission of Signal to the Nucleus;Peroxisomal protein import;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 19 +NX_P62993 Growth factor receptor-bound protein 2 217 25206 5.89 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Endosome;Nucleus NA Does not bind to phosphorylated epidermal growth factor receptor (EGFR) but inhibits EGF-induced transactivation of a RAS-responsive element.;Acts as a dominant negative protein over GRB2 and by suppressing proliferative signals, may trigger active programmed cell death.;Adapter protein that provides a critical link between cell surface growth factor receptors and the Ras signaling pathway. NA Belongs to the GRB2/sem-5/DRK family. MAPK signaling pathway;ErbB signaling pathway;Chemokine signaling pathway;Dorso-ventral axis formation;Osteoclast differentiation;Focal adhesion;Gap junction;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Neurotrophin signaling pathway;Insulin signaling pathway;GnRH signaling pathway;Hepatitis C;Pathways in cancer;Renal cell carcinoma;Endometrial cancer;Glioma;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer;RAF/MAP kinase cascade;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;PI3K Cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;SHC-mediated cascade:FGFR3;FRS-mediated FGFR3 signaling;PI-3K cascade:FGFR3;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;PI-3K cascade:FGFR4;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;Role of LAT2/NTAL/LAB on calcium mobilization;Interleukin receptor SHC signaling;DAP12 signaling;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;EGFR downregulation;SHC1 events in ERBB2 signaling;SHC1 events in ERBB4 signaling;GRB2 events in ERBB2 signaling;PI3K events in ERBB2 signaling;EGFR Transactivation by Gastrin;Signaling by SCF-KIT;Regulation of KIT signaling;CD28 dependent Vav1 pathway;Signaling by cytosolic FGFR1 fusion mutants;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Interleukin-3, Interleukin-5 and GM-CSF signaling;Signal regulatory protein family interactions;NCAM signaling for neurite out-growth;Regulation of signaling by CBL;Signal attenuation;Insulin receptor signalling cascade;Tie2 Signaling;Spry regulation of FGF signaling;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Signalling to RAS;Costimulation by the CD28 family;SOS-mediated signalling;Downstream signal transduction;GAB1 signalosome;Constitutive Signaling by EGFRvIII;Signaling by FGFR4 in disease;GRB2 events in EGFR signaling;SHC1 events in EGFR signaling;SHC-related events triggered by IGF1R;GRB2:SOS provides linkage to MAPK signaling for Integrins;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Signaling by FGFR3 point mutants in cancer;Signaling by FGFR3 fusions in cancer;RET signaling;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Negative regulation of MET activity;MET activates RAS signaling;MET activates RAP1 and RAC1;MET activates PI3K/AKT signaling;MET activates PTPN11;MET receptor recycling;InlB-mediated entry of Listeria monocytogenes into host cell;Interleukin-15 signaling;Activated NTRK2 signals through RAS;Activated NTRK2 signals through FRS2 and FRS3;Activated NTRK3 signals through RAS;Activated NTRK2 signals through PI3K;Erythropoietin activates RAS;FLT3 Signaling;STAT5 Activation PE1 17 +NX_P62995 Transformer-2 protein homolog beta 288 33666 11.25 0 Nucleoplasm;Cytosol;Nucleus NA Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing. Can either activate or suppress exon inclusion. Acts additively with RBMX to promote exon 7 inclusion of the survival motor neuron SMN2. Activates the splicing of MAPT/Tau exon 10. Alters pre-mRNA splicing patterns by antagonizing the effects of splicing regulators, like RBMX. Binds to the AG-rich SE2 domain in the SMN exon 7 RNA. Binds to pre-mRNA. Dimethylation at Arg-241 is probably asymmetric.;Phosphorylated in the RS domains. Belongs to the splicing factor SR family. Spliceosome;mRNA Splicing - Major Pathway PE1 3 +NX_P63000 Ras-related C3 botulinum toxin substrate 1 192 21450 8.77 0 Cytoplasm;Cell membrane;Nucleolus;Nucleoplasm;Lamellipodium;Melanosome;Cytosol Mental retardation, autosomal dominant 48 Has an accelerated GEF-independent GDP/GTP exchange and an impaired GTP hydrolysis, which is restored partially by GTPase-activating proteins. It is able to bind to the GTPase-binding domain of PAK but not full-length PAK in a GTP-dependent manner, suggesting that the insertion does not completely abolish effector interaction.;Plasma membrane-associated small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as secretory processes, phagocytosis of apoptotic cells, epithelial cell polarization, neurons adhesion, migration and differentiation, and growth-factor induced formation of membrane ruffles (PubMed:1643658, PubMed:28886345). Rac1 p21/rho GDI heterodimer is the active component of the cytosolic factor sigma 1, which is involved in stimulation of the NADPH oxidase activity in macrophages. Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly. Stimulates PKN2 kinase activity (PubMed:9121475). In concert with RAB7A, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts (PubMed:1643658). In podocytes, promotes nuclear shuttling of NR3C2; this modulation is required for a proper kidney functioning. Required for atypical chemokine receptor ACKR2-induced LIMK1-PAK1-dependent phosphorylation of cofilin (CFL1) and for up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. In neurons, is involved in dendritic spine formation and synaptic plasticity (By similarity). In synapses, seems to mediate the regulation of F-actin cluster formation performed by SHANK3. (Microbial infection) Glycosylated at Tyr-32 by Photorhabdus asymbiotica toxin PAU_02230. Mono-O-GlcNAcylation by PAU_02230 inhibits downstream signaling by an impaired interaction with diverse regulator and effector proteins of Rac and leads to actin disassembly.;(Microbial infection) AMPylation at Tyr-32 and Thr-35 are mediated by bacterial enzymes in case of infection by H.somnus and V.parahaemolyticus, respectively. AMPylation occurs in the effector region and leads to inactivation of the GTPase activity by preventing the interaction with downstream effectors, thereby inhibiting actin assembly in infected cells. It is unclear whether some human enzyme mediates AMPylation; FICD has such ability in vitro but additional experiments remain to be done to confirm results in vivo.;GTP-bound active form is ubiquitinated by HACE1, leading to its degradation by the proteasome. Belongs to the small GTPase superfamily. Rho family. MAPK signaling pathway;Chemokine signaling pathway;Phagosome;Wnt signaling pathway;Axon guidance;VEGF signaling pathway;Osteoclast differentiation;Focal adhesion;Adherens junction;Toll-like receptor signaling pathway;Natural killer cell mediated cytotoxicity;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Regulation of actin cytoskeleton;Pancreatic secretion;Amyotrophic lateral sclerosis (ALS);Bacterial invasion of epithelial cells;Epithelial cell signaling in Helicobacter pylori infection;Shigellosis;Salmonella infection;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Viral myocarditis;MAPK6/MAPK4 signaling;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;Translocation of SLC2A4 (GLUT4) to the plasma membrane;DSCAM interactions;Factors involved in megakaryocyte development and platelet production;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;RHO GTPases Activate Formins;GPVI-mediated activation cascade;EPHB-mediated forward signaling;Ephrin signaling;EPH-ephrin mediated repulsion of cells;Rho GTPase cycle;NRAGE signals death through JNK;DAP12 signaling;FCERI mediated MAPK activation;VEGFA-VEGFR2 Pathway;Signal transduction by L1;VEGFR2 mediated vascular permeability;PCP/CE pathway;SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion;Sema4D mediated inhibition of cell attachment and migration;Signaling by SCF-KIT;CD28 dependent Vav1 pathway;Sema3A PAK dependent Axon repulsion;Nef and signal transduction;DCC mediated attractive signaling;RHO GTPases activate PKNs;RHO GTPases activate CIT;RHO GTPases activate IQGAPs;RHO GTPases Activate NADPH Oxidases;RHO GTPases activate PAKs;RHO GTPases activate KTN1;Activation of RAC1;Inactivation of CDC42 and RAC1;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases;Neutrophil degranulation;MET activates RAP1 and RAC1;Activated NTRK2 signals through CDK5;NTRK2 activates RAC1;Activation of RAC1 downstream of NMDARs PE1 7 +NX_P63010 AP-2 complex subunit beta 937 104553 5.22 0 Cytoplasmic vesicle;Coated pit;Cell membrane NA Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). The AP-2 beta subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins; at least some clathrin-associated sorting proteins (CLASPs) are recognized by their [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif. The AP-2 beta subunit binds to clathrin heavy chain, promoting clathrin lattice assembly; clathrin displaces at least some CLASPs from AP2B1 which probably then can be positioned for further coat assembly. Phosphorylation at Tyr-737 by SRC occurs at the plasma membrane in clathrin-coated vesicles (CCVs).;AP2B1 is phosphorylated by SRC;AP2B1 is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the adaptor complexes large subunit family. Endocytosis;Synaptic vesicle cycle;Endocrine and other factor-regulated calcium reabsorption;Huntington's disease;MHC class II antigen presentation;EPH-ephrin mediated repulsion of cells;Retrograde neurotrophin signalling;Recycling pathway of L1;Nef Mediated CD8 Down-regulation;WNT5A-dependent internalization of FZD4;Nef Mediated CD4 Down-regulation;Trafficking of GluR2-containing AMPA receptors;WNT5A-dependent internalization of FZD2, FZD5 and ROR2;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;VLDLR internalisation and degradation;LDL clearance PE1 17 +NX_P63027 Vesicle-associated membrane protein 2 116 12663 7.84 1 Synaptic vesicle membrane;Synaptosome;Cell membrane NA Involved in the targeting and/or fusion of transport vesicles to their target membrane. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type D (BoNT/D, botD) which probably hydrolyzes the 59-Lys-|-Leu-60 bond and inhibits neurotransmitter release (PubMed:22289120). Note that humans are not known to be infected by C.botulinum type D.;(Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type B (BoNT/B, botB) which hydrolyzes the 76-Gln-|-Phe-77 bond and probably inhibits neurotransmitter release (PubMed:7803399).;(Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type F (BoNT/F, botF) which hydrolyzes the 58-Gln-|-Lys-59 bond and probably inhibits neurotransmitter release (PubMed:19543288).;(Microbial infection) Targeted and hydrolyzed by C.tetani tetanus toxin (tetX) which hydrolyzes the 76-Gln-|-Phe-77 bond and probably inhibits neurotransmitter release (PubMed:7803399).;Phosphorylated by PRKCZ in vitro and this phosphorylation is increased in the presence of WDFY2.;VAMP2 is phosphorylated by PRKCZ (Phosphoserine:PTM-0253);VAMP2 is phosphorylated by PRKD3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the synaptobrevin family. SNARE interactions in vesicular transport;Synaptic vesicle cycle;Vasopressin-regulated water reabsorption;Salivary secretion;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Insulin processing;Acetylcholine Neurotransmitter Release Cycle;Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis;GABA synthesis, release, reuptake and degradation;Glutamate Neurotransmitter Release Cycle;Norepinephrine Neurotransmitter Release Cycle;Regulation of insulin secretion;Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle;Toxicity of botulinum toxin type D (BoNT/D);Toxicity of botulinum toxin type F (BoNT/F);Toxicity of botulinum toxin type G (BoNT/G);Toxicity of botulinum toxin type B (BoNT/B);Toxicity of tetanus toxin (TeNT);Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Other interleukin signaling;Insertion of tail-anchored proteins into the endoplasmic reticulum membrane;trans-Golgi Network Vesicle Budding PE1 17 +NX_P63092 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short 394 45665 5.59 0 Cell membrane Pseudohypoparathyroidism 1A;Progressive osseous heteroplasia;Pseudohypoparathyroidism 1C;Albright hereditary osteodystrophy;GNAS hyperfunction;McCune-Albright syndrome;ACTH-independent macronodular adrenal hyperplasia 1;Pseudohypoparathyroidism 1B Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs) (PubMed:17110384). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP (PubMed:26206488, PubMed:8702665). GNAS functions downstream of several GPCRs, including beta-adrenergic receptors (PubMed:21488135). Stimulates the Ras signaling pathway via RAPGEF2 (PubMed:12391161). GNAS is phosphorylated by PTK6 Belongs to the G-alpha family. G(s) subfamily. Calcium signaling pathway;Vascular smooth muscle contraction;Gap junction;Glutamatergic synapse;Dopaminergic synapse;Long-term depression;Taste transduction;GnRH signaling pathway;Melanogenesis;Endocrine and other factor-regulated calcium reabsorption;Vasopressin-regulated water reabsorption;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Bile secretion;Vibrio cholerae infection;Chagas disease (American trypanosomiasis);Amoebiasis;Dilated cardiomyopathy;G alpha (i) signalling events;G alpha (s) signalling events;Hedgehog 'off' state;PKA activation in glucagon signalling;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;Prostacyclin signalling through prostacyclin receptor;G alpha (z) signalling events;Glucagon-type ligand receptors PE1 20 +NX_P63096 Guanine nucleotide-binding protein G(i) subunit alpha-1 354 40361 5.69 0 Golgi apparatus;Cytoplasm;Cell cortex;Cell membrane;Membrane;Centrosome;Nucleus NA Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:8774883, PubMed:18434541). Signaling is mediated via effector proteins, such as adenylate cyclase. Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels (By similarity). The inactive GDP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. Required for normal cytokinesis during mitosis (PubMed:17635935). Required for cortical dynein-dynactin complex recruitment during metaphase (PubMed:22327364). Myristoylation at Gly-2 is required for membrane anchoring before palmitoylation.;(Microbial infection) Deamidated at Gln-204 by Photorhabdus asymbiotica toxin PAU_02230, blocking GTP hydrolysis of heterotrimeric GNAQ or GNA11 and G-alphai (GNAI1, GNAI2 or GNAI3) proteins, thereby activating RhoA.;Palmitoylation at Cys-3 varies with membrane lipid composition. Belongs to the G-alpha family. G(i/o/t/z) subfamily. Chemokine signaling pathway;Axon guidance;Tight junction;Gap junction;Leukocyte transendothelial migration;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Long-term depression;Progesterone-mediated oocyte maturation;Melanogenesis;Gastric acid secretion;Pertussis;Chagas disease (American trypanosomiasis);Toxoplasmosis;G alpha (i) signalling events;G alpha (s) signalling events;G-protein activation;ADP signalling through P2Y purinoceptor 12;Adrenaline,noradrenaline inhibits insulin secretion;G alpha (z) signalling events;Regulation of insulin secretion;PLC beta mediated events;Adenylate cyclase inhibitory pathway;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling PE1 7 +NX_P63098 Calcineurin subunit B type 1 170 19300 4.64 0 Cytoplasm;Cytosol;Sarcolemma;Cell membrane NA Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity. NA Belongs to the calcineurin regulatory subunit family. MAPK signaling pathway;Calcium signaling pathway;Oocyte meiosis;Apoptosis;Wnt signaling pathway;Axon guidance;VEGF signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Long-term potentiation;Glutamatergic synapse;Alzheimer's disease;Amyotrophic lateral sclerosis (ALS);Tuberculosis;FCERI mediated Ca+2 mobilization;Activation of BAD and translocation to mitochondria;DARPP-32 events;Ca2+ pathway;CLEC7A (Dectin-1) induces NFAT activation;Calcineurin activates NFAT PE1 2 +NX_P63104 14-3-3 protein zeta/delta 245 27745 4.73 0 Cytoplasm;Melanosome NA Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Induces ARHGEF7 activity on RAC1 as well as lamellipodia and membrane ruffle formation (PubMed:16959763). In neurons, regulates spine maturation through the modulation of ARHGEF7 activity (By similarity). The delta, brain-specific form differs from the zeta form in being phosphorylated (By similarity). Phosphorylation on Ser-184 by MAPK8; promotes dissociation of BAX and translocation of BAX to mitochondria. Phosphorylation on Thr-232; inhibits binding of RAF1. Phosphorylated on Ser-58 by PKA and protein kinase C delta type catalytic subunit in a sphingosine-dependent fashion. Phosphorylation on Ser-58 by PKA; disrupts homodimerization and heterodimerization with YHAE and TP53.;YWHAZ is phosphorylated by IGF1R (Phosphotyrosine:PTM-0255) Belongs to the 14-3-3 family. Cell cycle;Oocyte meiosis;Neurotrophin signaling pathway;Pathogenic Escherichia coli infection;Translocation of SLC2A4 (GLUT4) to the plasma membrane;TP53 Regulates Metabolic Genes;Activation of BAD and translocation to mitochondria;Deactivation of the beta-catenin transactivating complex;Interleukin-3, Interleukin-5 and GM-CSF signaling;KSRP (KHSRP) binds and destabilizes mRNA;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;RHO GTPases activate PKNs;GP1b-IX-V activation signalling;Rap1 signalling;Negative regulation of NOTCH4 signaling;NOTCH4 Activation and Transmission of Signal to the Nucleus;Regulation of localization of FOXO transcription factors PE1 8 +NX_P63119 Endogenous retrovirus group K member 21 Pro protein 156 17107 7.92 0 NA NA Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. Autoproteolytically processed at the N-terminus. Expected C-terminal autoprocessing not detected. The sequence shown is that of the processed Pro protein (By similarity). Belongs to the peptidase A2 family. HERV class-II K(HML-2) subfamily. NA PE3 12 +NX_P63120 Endogenous retrovirus group K member 19 Pro protein 156 17107 7.92 0 NA NA Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. Autoproteolytically processed at the N-terminus. Expected C-terminal autoprocessing not detected. The sequence shown is that of the processed Pro protein (By similarity). Belongs to the peptidase A2 family. HERV class-II K(HML-2) subfamily. NA PE3 19 +NX_P63121 Endogenous retrovirus group K member 113 Pro protein 156 17136 5.86 0 NA NA Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. Autoproteolytically processed at the N-terminus. Expected C-terminal autoprocessing not detected. The sequence shown is that of the processed Pro protein (By similarity). Belongs to the peptidase A2 family. HERV class-II K(HML-2) subfamily. NA PE3 19 +NX_P63122 Endogenous retrovirus group K member 8 Pro protein 156 17206 8.56 0 NA NA Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. Autoproteolytically processed at the N-terminus. Expected C-terminal autoprocessing not detected. The sequence shown is that of the processed Pro protein (By similarity). Belongs to the peptidase A2 family. HERV class-II K(HML-2) subfamily. NA PE3 8 +NX_P63123 Endogenous retrovirus group K member 18 Pro protein 156 17101 7.95 0 NA NA Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. Autoproteolytically processed at the N-terminus. Expected C-terminal autoprocessing not detected. The sequence shown is that of the processed Pro protein (By similarity). Belongs to the peptidase A2 family. HERV class-II K(HML-2) subfamily. NA PE3 1 +NX_P63124 Endogenous retrovirus group K member 104 Pro protein 156 17121 5.86 0 NA NA Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution (By similarity). Autoproteolytically processed at the N-terminus. Expected C-terminal autoprocessing not detected. The sequence shown is that of the processed Pro protein (By similarity). Belongs to the peptidase A2 family. HERV class-II K(HML-2) subfamily. NA PE3 5 +NX_P63125 Endogenous retrovirus group K member 25 Pro protein 156 17077 7.92 0 NA NA Retroviral proteases have roles in processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. This endogenous protein has retained most of the characteristics of retroviral proteases. Autoproteolytically processed at the N-terminus. Expected C-terminal autoprocessing not detected. The sequence shown is that of the processed Pro protein (By similarity). Belongs to the peptidase A2 family. HERV class-II K(HML-2) subfamily. NA PE3 11 +NX_P63126 Endogenous retrovirus group K member 9 Gag polyprotein 666 74005 9.02 0 Cell membrane NA The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution. Myristoylation is essential for retroviral assembly. Alteration of the glycine residue leads to a block in the budding of particles and an accumulation of Gag inside the cell (By similarity).;Specific enzymatic cleavages may yield mature proteins. Belongs to the beta type-B retroviral Gag protein family. HERV class-II K(HML-2) gag subfamily. NA PE1 6 +NX_P63127 Endogenous retrovirus group K member 9 Pro protein 156 17194 8.56 0 NA NA Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution (By similarity). Autoproteolytically processed at the N-terminus. Expected C-terminal autoprocessing not detected. The sequence shown is that of the processed Pro protein (By similarity). Belongs to the peptidase A2 family. HERV class-II K(HML-2) subfamily. NA PE3 6 +NX_P63128 Endogenous retrovirus group K member 9 Pol protein 1117 123620 9.04 0 Cell membrane NA The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution (By similarity).;Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution (By similarity). Specific enzymatic cleavages may yield mature proteins.;Myristoylation is essential for retroviral assembly. Alteration of the glycine residue leads to a block in the budding of particles and an accumulation of Gag inside the cell (By similarity). Belongs to the beta type-B retroviral polymerase family. HERV class-II K(HML-2) pol subfamily. NA PE3 6 +NX_P63129 Endogenous retrovirus group K member 24 Pro protein 156 17139 7.92 0 NA NA Retroviral proteases have roles in processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. This endogenous protein has retained most of the characteristics of retroviral proteases. Autoproteolytically processed at the N-terminus. Expected C-terminal autoprocessing not detected. The sequence shown is that of the processed Pro protein (By similarity). Belongs to the peptidase A2 family. HERV class-II K(HML-2) subfamily. NA PE3 22 +NX_P63130 Endogenous retrovirus group K member 7 Gag polyprotein 666 74111 8.99 0 Cell membrane NA The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution. Specific enzymatic cleavages may yield mature proteins.;Myristoylation is essential for retroviral assembly. Alteration of the glycine residue leads to a block in the budding of particles and an accumulation of Gag inside the cell (By similarity). Belongs to the beta type-B retroviral Gag protein family. HERV class-II K(HML-2) gag subfamily. NA PE3 1 +NX_P63131 Endogenous retrovirus group K member 7 Pro protein 156 17078 5.86 0 NA NA Retroviral proteases have roles in processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. This endogenous protein has retained most of the characteristics of retroviral proteases. Autoproteolytically processed at the N-terminus. Expected C-terminal autoprocessing not detected. The sequence shown is that of the processed Pro protein (By similarity). Belongs to the peptidase A2 family. HERV class-II K(HML-2) subfamily. NA PE3 1 +NX_P63132 Endogenous retrovirus group K member 113 Pol protein 956 107766 9.06 0 NA NA Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution. NA Belongs to the beta type-B retroviral polymerase family. HERV class-II K(HML-2) pol subfamily. NA PE3 19 +NX_P63133 Endogenous retrovirus group K member 8 Pol protein 956 107703 9.11 0 NA NA Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution. NA Belongs to the beta type-B retroviral polymerase family. HERV class-II K(HML-2) pol subfamily. NA PE3 8 +NX_P63135 Endogenous retrovirus group K member 7 Pol protein 1459 165184 9.09 0 NA NA Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution. NA Belongs to the beta type-B retroviral polymerase family. HERV class-II K(HML-2) pol subfamily. NA PE3 1 +NX_P63136 Endogenous retrovirus group K member 25 Pol protein 954 107472 9.14 0 NA NA Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution (By similarity). NA Belongs to the beta type-B retroviral polymerase family. HERV class-II K(HML-2) pol subfamily. NA PE3 11 +NX_P63145 Endogenous retrovirus group K member 24 Gag polyprotein 666 74040 8.99 0 Cell membrane NA The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution. Myristoylation is essential for retroviral assembly. Alteration of the glycine residue leads to a block in the budding of particles and an accumulation of Gag inside the cell (By similarity).;Specific enzymatic cleavages may yield mature proteins. Belongs to the beta type-B retroviral Gag protein family. HERV class-II K(HML-2) gag subfamily. NA PE1 22 +NX_P63146 Ubiquitin-conjugating enzyme E2 B 152 17312 4.91 0 Nucleus;Cell membrane NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys-120' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes 'Lys-11'-, as well as 'Lys-48'- and 'Lys-63'-linked polyubiquitination. Required for postreplication repair of UV-damaged DNA. Associates to the E3 ligase RAD18 to form the UBE2B-RAD18 ubiquitin ligase complex involved in mono-ubiquitination of DNA-associated PCNA on 'Lys-164'. May be involved in neurite outgrowth. NA Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Recognition of DNA damage by PCNA-containing replication complex;Synthesis of active ubiquitin: roles of E1 and E2 enzymes;E3 ubiquitin ligases ubiquitinate target proteins PE1 5 +NX_P63151 Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform 447 51692 5.82 0 NA NA The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. NA Belongs to the phosphatase 2A regulatory subunit B family. mRNA surveillance pathway;Tight junction;Dopaminergic synapse;Chagas disease (American trypanosomiasis);Hepatitis C;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Initiation of Nuclear Envelope Reformation;Cyclin A/B1/B2 associated events during G2/M transition;Cyclin D associated events in G1 PE1 8 +NX_P63162 Small nuclear ribonucleoprotein-associated protein N 240 24614 11.2 0 Nucleus NA May be involved in tissue-specific alternative RNA processing events. NA Belongs to the snRNP SmB/SmN family. mRNA Splicing - Major Pathway PE1 15 +NX_P63165 Small ubiquitin-related modifier 1 101 11557 5.34 0 Cytoplasm;Nucleus speckle;Cell membrane;Nucleus membrane;Nucleolus;Nucleoplasm;PML body;Nucleus Non-syndromic orofacial cleft 10 Ubiquitin-like protein that can be covalently attached to proteins as a monomer or a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by E3 ligases such as PIAS1-4, RANBP2 or CBX4. This post-translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Involved for instance in targeting RANGAP1 to the nuclear pore complex protein RANBP2. Covalently attached to the voltage-gated potassium channel KCNB1; this modulates the gating characteristics of KCNB1 (PubMed:19223394). Polymeric SUMO1 chains are also susceptible to polyubiquitination which functions as a signal for proteasomal degradation of modified proteins. May also regulate a network of genes involved in palate development. Covalently attached to ZFHX3 (PubMed:24651376). Polymeric SUMO1 chains undergo polyubiquitination by RNF4.;Cleavage of precursor form by SENP1 or SENP2 is necessary for function. Belongs to the ubiquitin family. SUMO subfamily. RNA transport;SUMOylation of DNA damage response and repair proteins;G2/M DNA damage checkpoint;SUMO is conjugated to E1 (UBA2:SAE1);SUMO is transferred from E1 to E2 (UBE2I, UBC9);Regulation of IFNG signaling;SUMO is proteolytically processed;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Formation of Incision Complex in GG-NER;SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of transcription factors;SUMOylation of chromatin organization proteins;Negative regulation of activity of TFAP2 (AP-2) family transcription factors;SUMOylation of intracellular receptors;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins;SUMOylation of transcription cofactors;SUMOylation of DNA methylation proteins;SUMOylation of immune response proteins PE1 2 +NX_P63167 Dynein light chain 1, cytoplasmic 89 10366 6.89 0 Mitochondrion;Centrosome;Nucleus;Cytoskeleton NA Binds and inhibits the catalytic activity of neuronal nitric oxide synthase.;Promotes transactivation functions of ESR1 and plays a role in the nuclear localization of ESR1.;Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in changing or maintaining the spatial distribution of cytoskeletal structures.;Regulates apoptotic activities of BCL2L11 by sequestering it to microtubules. Upon apoptotic stimuli the BCL2L11-DYNLL1 complex dissociates from cytoplasmic dynein and translocates to mitochondria and sequesters BCL2 thus neutralizing its antiapoptotic activity. Phosphorylation at Ser-88 appears to control the dimer-monomer transition. According to PubMed:15193260, it is phosphorylated at Ser-88 by PAK1, however, according to PubMed:18650427, the DYNLL1 dimer is not accessible for PAK1 and the phosphorylation could not be demonstrated in vitro. Belongs to the dynein light chain family. Vasopressin-regulated water reabsorption;Separation of Sister Chromatids;Macroautophagy;Anchoring of the basal body to the plasma membrane;MHC class II antigen presentation;Intraflagellar transport;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Recruitment of NuMA to mitotic centrosomes;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Activation of BIM and translocation to mitochondria;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;AURKA Activation by TPX2;Neutrophil degranulation;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 12 +NX_P63172 Dynein light chain Tctex-type 1 113 12452 5 0 Golgi apparatus;Nucleoplasm;Spindle;Cytoplasm NA Plays a role in neuronal morphogenesis; the function is independent of cytoplasmic dynein and seems to be coupled to regulation of the actin cytoskeleton by enhancing Rac1 activity. The function in neurogenesis may be regulated by association with a G-protein beta-gamma dimer. May function as a receptor-independent activator of heterotrimeric G-protein signaling; the activation appears to be independent of a nucleotide exchange. Plays a role in regulating neurogenesis; inhibits the genesis of neurons from precursor cells during cortical development presumably by antagonizing ARHGEF2. Involved in the regulation of mitotic spindle orientation (By similarity). Unrelated to the role in retrograde microtubule-associated movement may play a role in the dimerization of cytoplasmic proteins/domains such as for ACVR2B. Binds to the cytoplasmic domain of ACVR2B and, in vitro, inhibits ACVR2B signaling (PubMed:27502274).;Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Binds to transport cargos and is involved in apical cargo transport such as rhodopsin-bearing vesicles in polarized epithelia. May also be a accessory component of axonemal dynein.;(Microbial infection) Is involved in intracellular targeting of D-type retrovirus gag polyproteins to the cytoplasmic assembly site. Phosphorylated by BMPR2; the phosphorylation is abolished by BMPR2 mutations in exon 12 which lead to truncated forms of BMPR2 and which are linked to primary pulmonary hypertension (PPH1) [MIM:178600]. The phosphorylation status is proposed to regulate the association with the cytoplasmic dynein complex and may have role in cytoplasmic dynein cargo release (By similarity).;DYNLT1 is phosphorylated by FYN (Phosphotyrosine:PTM-0255) Belongs to the dynein light chain Tctex-type family. Neutrophil degranulation PE1 6 +NX_P63173 60S ribosomal protein L38 70 8218 10.1 0 Endoplasmic reticulum;Cytosol NA NA NA Belongs to the eukaryotic ribosomal protein eL38 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 17 +NX_P63208 S-phase kinase-associated protein 1 163 18658 4.4 0 Nucleoplasm;Cytosol NA Essential component of the SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complex, which mediates the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. In the SCF complex, serves as an adapter that links the F-box protein to CUL1. The functional specificity of the SCF complex depends on the F-box protein as substrate recognition component. SCF(BTRC) and SCF(FBXW11) direct ubiquitination of CTNNB1 and participate in Wnt signaling. SCF(FBXW11) directs ubiquitination of phosphorylated NFKBIA. SCF(BTRC) directs ubiquitination of NFKBIB, NFKBIE, ATF4, SMAD3, SMAD4, CDC25A, FBXO5, CEP68 and probably NFKB2 (PubMed:25704143). SCF(SKP2) directs ubiquitination of phosphorylated CDKN1B/p27kip and is involved in regulation of G1/S transition. SCF(SKP2) directs ubiquitination of ORC1, CDT1, RBL2, ELF4, CDKN1A, RAG2, FOXO1A, and probably MYC and TAL1. SCF(FBXW7) directs ubiquitination of cyclin E, NOTCH1 released notch intracellular domain (NICD), and probably PSEN1. SCF(FBXW2) directs ubiquitination of GCM1. SCF(FBXO32) directs ubiquitination of MYOD1. SCF(FBXO7) directs ubiquitination of BIRC2 and DLGAP5. SCF(FBXO33) directs ubiquitination of YBX1. SCF(FBXO11) directs ubiquitination of BCL6 and DTL but does not seem to direct ubiquitination of TP53. SCF(BTRC) mediates the ubiquitination of NFKBIA at 'Lys-21' and 'Lys-22'; the degradation frees the associated NFKB1-RELA dimer to translocate into the nucleus and to activate transcription. SCF(CCNF) directs ubiquitination of CCP110. SCF(FBXL3) and SCF(FBXL21) direct ubiquitination of CRY1 and CRY2. SCF(FBXO9) directs ubiquitination of TTI1 and TELO2. SCF(FBXO10) directs ubiquitination of BCL2. Undergoes autophagy-mediated degradation in the liver in a time-dependent manner. Belongs to the SKP1 family. Protein modification; protein ubiquitination.;Cell cycle;Oocyte meiosis;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;Wnt signaling pathway;TGF-beta signaling pathway;Circadian rhythm - mammal;Herpes simplex infection;Activation of NF-kappaB in B cells;SCF-beta-TrCP mediated degradation of Emi1;Vpu mediated degradation of CD4;Degradation of beta-catenin by the destruction complex;FCERI mediated NF-kB activation;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;NIK-->noncanonical NF-kB signaling;Orc1 removal from chromatin;Antigen processing: Ubiquitination & Proteasome degradation;Regulation of PLK1 Activity at G2/M Transition;Downstream TCR signaling;SCF(Skp2)-mediated degradation of p27/p21;Circadian Clock;Prolactin receptor signaling;Iron uptake and transport;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Cyclin D associated events in G1;Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling;MAP3K8 (TPL2)-dependent MAPK1/3 activation;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX2 expression and activity;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling PE1 5 +NX_P63211 Guanine nucleotide-binding protein G(T) subunit gamma-T1 74 8496 4.76 0 Cell membrane NA Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. NA Belongs to the G protein gamma family. Chemokine signaling pathway;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Phototransduction;G alpha (i) signalling events;Olfactory Signaling Pathway;G alpha (q) signalling events;G alpha (s) signalling events;G beta:gamma signalling through PI3Kgamma;G alpha (12/13) signalling events;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Activation of the phototransduction cascade;Inactivation, recovery and regulation of the phototransduction cascade;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;G-protein activation;ADP signalling through P2Y purinoceptor 12;Prostacyclin signalling through prostacyclin receptor;Adrenaline,noradrenaline inhibits insulin secretion;Ca2+ pathway;G beta:gamma signalling through PLC beta;ADP signalling through P2Y purinoceptor 1;G alpha (z) signalling events;Glucagon-type ligand receptors;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Presynaptic function of Kainate receptors;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling;G beta:gamma signalling through BTK;G beta:gamma signalling through CDC42 PE1 7 +NX_P63215 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3 75 8305 7.65 0 Cell membrane NA Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. NA Belongs to the G protein gamma family. Chemokine signaling pathway;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Taste transduction;G alpha (i) signalling events;G alpha (q) signalling events;G alpha (s) signalling events;G beta:gamma signalling through PI3Kgamma;G alpha (12/13) signalling events;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G-protein activation;ADP signalling through P2Y purinoceptor 12;Prostacyclin signalling through prostacyclin receptor;Adrenaline,noradrenaline inhibits insulin secretion;Ca2+ pathway;G beta:gamma signalling through PLC beta;ADP signalling through P2Y purinoceptor 1;G alpha (z) signalling events;Glucagon-type ligand receptors;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Presynaptic function of Kainate receptors;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling;G beta:gamma signalling through BTK;G beta:gamma signalling through CDC42 PE1 11 +NX_P63218 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5 68 7318 9.9 0 Cell membrane NA Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. NA Belongs to the G protein gamma family. Chemokine signaling pathway;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;G alpha (i) signalling events;G alpha (q) signalling events;G alpha (s) signalling events;G beta:gamma signalling through PI3Kgamma;G alpha (12/13) signalling events;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G-protein activation;ADP signalling through P2Y purinoceptor 12;Prostacyclin signalling through prostacyclin receptor;Adrenaline,noradrenaline inhibits insulin secretion;Ca2+ pathway;G beta:gamma signalling through PLC beta;ADP signalling through P2Y purinoceptor 1;G alpha (z) signalling events;Glucagon-type ligand receptors;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Presynaptic function of Kainate receptors;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling;G beta:gamma signalling through BTK;G beta:gamma signalling through CDC42 PE1 1 +NX_P63220 40S ribosomal protein S21 83 9111 8.68 0 Endoplasmic reticulum;Cytoplasm;Cytosol;Rough endoplasmic reticulum NA NA NA Belongs to the eukaryotic ribosomal protein eS21 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 20 +NX_P63241 Eukaryotic translation initiation factor 5A-1 154 16832 5.07 0 Cytoplasm;Endoplasmic reticulum membrane;Nuclear pore complex;Nucleoplasm;Cytosol;Nucleus NA MRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. With syntenin SDCBP, functions as a regulator of p53/TP53 and p53/TP53-dependent apoptosis. Regulates also TNF-alpha-mediated apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation. Also described as a cellular cofactor of human T-cell leukemia virus type I (HTLV-1) Rex protein and of human immunodeficiency virus type 1 (HIV-1) Rev protein, essential for mRNA export of retroviral transcripts. EIF-5A seems to be the only eukaryotic protein to have a hypusine residue which is a post-translational modification of a lysine by the addition of a butylamino group (from spermidine).;Acetylated. Deacetylated by SIRT2. Belongs to the eIF-5A family. Hypusine synthesis from eIF5A-lysine PE1 17 +NX_P63244 Receptor of activated protein C kinase 1 317 35077 7.6 0 Cytoplasm;Perinuclear region;Cell membrane;Perikaryon;Nucleoplasm;Phagocytic cup;Cytoplasmic vesicle;Dendrite;Nucleus NA (Microbial infection) Enhances phosphorylation of HIV-1 Nef by PKCs.;(Microbial infection) Contributes to the cap-independent internal ribosome entry site (IRES)-mediated translation by some RNA viruses.;(Microbial infection) In case of poxvirus infection, remodels the ribosomes so that they become optimal for the viral mRNAs (containing poly-A leaders) translation but not for host mRNAs.;(Microbial infection) Binds to Y.pseudotuberculosis yopK which leads to inhibition of phagocytosis and survival of bacteria following infection of host cells.;Scaffolding protein involved in the recruitment, assembly and/or regulation of a variety of signaling molecules. Interacts with a wide variety of proteins and plays a role in many cellular processes. Component of the 40S ribosomal subunit involved in translational repression (PubMed:23636399). Involved in the initiation of the ribosome quality control (RQC), a pathway that takes place when a ribosome has stalled during translation, by promoting ubiquitination of a subset of 40S ribosomal subunits (PubMed:28132843). Binds to and stabilizes activated protein kinase C (PKC), increasing PKC-mediated phosphorylation. May recruit activated PKC to the ribosome, leading to phosphorylation of EIF6. Inhibits the activity of SRC kinases including SRC, LCK and YES1. Inhibits cell growth by prolonging the G0/G1 phase of the cell cycle. Enhances phosphorylation of BMAL1 by PRKCA and inhibits transcriptional activity of the BMAL1-CLOCK heterodimer. Facilitates ligand-independent nuclear translocation of AR following PKC activation, represses AR transactivation activity and is required for phosphorylation of AR by SRC. Modulates IGF1R-dependent integrin signaling and promotes cell spreading and contact with the extracellular matrix. Involved in PKC-dependent translocation of ADAM12 to the cell membrane. Promotes the ubiquitination and proteasome-mediated degradation of proteins such as CLEC1B and HIF1A. Required for VANGL2 membrane localization, inhibits Wnt signaling, and regulates cellular polarization and oriented cell division during gastrulation. Required for PTK2/FAK1 phosphorylation and dephosphorylation. Regulates internalization of the muscarinic receptor CHRM2. Promotes apoptosis by increasing oligomerization of BAX and disrupting the interaction of BAX with the anti-apoptotic factor BCL2L. Inhibits TRPM6 channel activity. Regulates cell surface expression of some GPCRs such as TBXA2R. Plays a role in regulation of FLT1-mediated cell migration. Involved in the transport of ABCB4 from the Golgi to the apical bile canalicular membrane (PubMed:19674157). Promotes migration of breast carcinoma cells by binding to and activating RHOA (PubMed:20499158). Phosphorylated on Tyr-228 and/or Tyr-246 by SRC. This is required for binding to SRC.;(Microbial infection) Phosphorylated by vaccinia virus B1 kinase on serine and threonine residues; this phosphorylation remodels the ribosome properties, favoring the viral mRNA translation. Belongs to the WD repeat G protein beta family. Ribosomal protein RACK1 subfamily. Measles;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;TNFR1-mediated ceramide production PE1 5 +NX_P63252 Inward rectifier potassium channel 2 427 48288 5.47 2 Membrane Short QT syndrome 3;Long QT syndrome 7;Atrial fibrillation, familial, 9 Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium or cesium. S-nitrosylation increases the open probability and inward rectifying currents. Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ2 subfamily. Cholinergic synapse;Gastric acid secretion;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Classical Kir channels;Phase 4 - resting membrane potential PE1 17 +NX_P63261 Actin, cytoplasmic 2 375 41793 5.31 0 Cytoplasm;Cytoskeleton Deafness, autosomal dominant, 20;Baraitser-Winter syndrome 2 Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. Monomethylation at Lys-84 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration.;Methylated at His-73 by SETD3.;Oxidation of Met-44 and Met-47 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promote actin repolymerization.;(Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-50 of one monomer and Glu-270 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148).;Actin, cytoplasmic 2, N-terminally processed: N-terminal acetylation by NAA80 affects actin filament depolymerization and elongation, including elongation driven by formins (PubMed:29581253). In contrast, filament nucleation by the Arp2/3 complex is not affected (PubMed:29581253). Belongs to the actin family. Phagosome;Focal adhesion;Adherens junction;Tight junction;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Vibrio cholerae infection;Pathogenic Escherichia coli infection;Shigellosis;Salmonella infection;Influenza A;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Viral myocarditis;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;Translocation of SLC2A4 (GLUT4) to the plasma membrane;RHO GTPases Activate Formins;EPHB-mediated forward signaling;EPH-ephrin mediated repulsion of cells;VEGFA-VEGFR2 Pathway;Interaction between L1 and Ankyrins;Recycling pathway of L1;MAP2K and MAPK activation;Adherens junctions interactions;Gap junction degradation;RHO GTPases activate IQGAPs;Formation of annular gap junctions;Cell-extracellular matrix interactions;Clathrin-mediated endocytosis;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 17 +NX_P63267 Actin, gamma-enteric smooth muscle 376 41877 5.31 0 Cytoskeleton Visceral myopathy Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. Oxidation of Met-45 and Met-48 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promotes actin repolymerization.;Methylated at His-74 by SETD3.;Monomethylation at Lys-85 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration.;(Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-51 of one monomer and Glu-271 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148). Belongs to the actin family. Vascular smooth muscle contraction;Smooth Muscle Contraction PE1 2 +NX_P63272 Transcription elongation factor SPT4 117 13193 8.29 0 Nucleoplasm;Nucleus NA Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter. Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex. DSIF and NELF promote pausing by inhibition of the transcription elongation factor TFIIS/S-II. TFIIS/S-II binds to RNA polymerase II at transcription pause sites and stimulates the weak intrinsic nuclease activity of the enzyme. Cleavage of blocked transcripts by RNA polymerase II promotes the resumption of transcription from the new 3' terminus and may allow repeated attempts at transcription through natural pause sites. DSIF can also positively regulate transcriptional elongation and is required for the efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat. DSIF acts to suppress transcriptional pausing in transcripts derived from the HIV-1 LTR and blocks premature release of HIV-1 transcripts at terminator sequences. NA Belongs to the SPT4 family. Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;RNA polymerase II transcribes snRNA genes;TP53 Regulates Transcription of DNA Repair Genes PE1 17 +NX_P63279 SUMO-conjugating enzyme UBC9 158 18007 8.87 0 Cytoplasm;Nucleus NA Accepts the ubiquitin-like proteins SUMO1, SUMO2, SUMO3, SUMO4 and SUMO1P1/SUMO5 from the UBLE1A-UBLE1B E1 complex and catalyzes their covalent attachment to other proteins with the help of an E3 ligase such as RANBP2, CBX4 and ZNF451. Can catalyze the formation of poly-SUMO chains. Necessary for sumoylation of FOXL2 and KAT5. Essential for nuclear architecture and chromosome segregation. Sumoylates p53/TP53 at 'Lys-386'. Mediates sumoylation of ERCC6 which is essential for its transcription-coupled nucleotide excision repair activity (PubMed:26620705). Phosphorylation at Ser-71 significantly enhances SUMOylation activity. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein sumoylation.;RNA transport;Ubiquitin mediated proteolysis;SUMOylation of DNA damage response and repair proteins;Meiotic synapsis;Vitamin D (calciferol) metabolism;SUMO is transferred from E1 to E2 (UBE2I, UBC9);Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Formation of Incision Complex in GG-NER;SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of transcription factors;SUMOylation of chromatin organization proteins;Negative regulation of activity of TFAP2 (AP-2) family transcription factors;SUMOylation of intracellular receptors;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins;SUMOylation of transcription cofactors;SUMOylation of DNA methylation proteins;SUMOylation of immune response proteins PE1 16 +NX_P63302 Selenoprotein W 87 9448 9.3 0 Cytoplasm NA Plays a role as a glutathione (GSH)-dependent antioxidant. May be involved in a redox-related process. May play a role in the myopathies of selenium deficiency (By similarity). NA Belongs to the SelWTH family. Selenoprotein W subfamily. NA PE1 19 +NX_P63313 Thymosin beta-10 44 5026 5.31 0 Cytoskeleton NA Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity). NA Belongs to the thymosin beta family. NA PE1 2 +NX_P63316 Troponin C, slow skeletal and cardiac muscles 161 18403 4.04 0 Nucleoplasm;Mitochondrion;Cytoskeleton Cardiomyopathy, familial hypertrophic 13;Cardiomyopathy, dilated 1Z Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments. NA Belongs to the troponin C family. Calcium signaling pathway;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;Striated Muscle Contraction PE1 3 +NX_P67775 Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform 309 35594 5.3 0 Spindle pole;Cytoplasm;Centromere;Nucleus Neurodevelopmental disorder and language delay with or without structural brain abnormalities PP2A is the major phosphatase for microtubule-associated proteins (MAPs). PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase. Cooperates with SGO2 to protect centromeric cohesin from separase-mediated cleavage in oocytes specifically during meiosis I (By similarity). Can dephosphorylate SV40 large T antigen and p53/TP53. Activates RAF1 by dephosphorylating it at 'Ser-259'. Phosphorylation of either threonine (by autophosphorylation-activated protein kinase) or tyrosine results in inactivation of the phosphatase. Auto-dephosphorylation has been suggested as a mechanism for reactivation.;Polyubiquitinated, leading to its degradation by the proteasome.;Reversibly methyl esterified on Leu-309 by leucine carboxyl methyltransferase 1 (LCMT1) and protein phosphatase methylesterase 1 (PPME1). Carboxyl methylation influences the affinity of the catalytic subunit for the different regulatory subunits, thereby modulating the PP2A holoenzyme's substrate specificity, enzyme activity and cellular localization.;PPP2CA is phosphorylated by CSNK2A1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);PPP2CA is phosphorylated by PRKCD (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the PPP phosphatase family. PP-1 subfamily. mRNA surveillance pathway;Oocyte meiosis;Wnt signaling pathway;TGF-beta signaling pathway;Tight junction;Dopaminergic synapse;Long-term depression;Chagas disease (American trypanosomiasis);Hepatitis C;Degradation of beta-catenin by the destruction complex;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Negative regulation of MAPK pathway;Initiation of Nuclear Envelope Reformation;Cyclin A/B1/B2 associated events during G2/M transition;MASTL Facilitates Mitotic Progression;RAF activation;DARPP-32 events;Disassembly of the destruction complex and recruitment of AXIN to the membrane;Inhibition of replication initiation of damaged DNA by RB1/E2F1;Cyclin D associated events in G1;CTLA4 inhibitory signaling;Beta-catenin phosphorylation cascade;Misspliced GSK3beta mutants stabilize beta-catenin;S33 mutants of beta-catenin aren't phosphorylated;S37 mutants of beta-catenin aren't phosphorylated;S45 mutants of beta-catenin aren't phosphorylated;T41 mutants of beta-catenin aren't phosphorylated;APC truncation mutants have impaired AXIN binding;AXIN missense mutants destabilize the destruction complex;Truncations of AMER1 destabilize the destruction complex;Spry regulation of FGF signaling;Platelet sensitization by LDL;ERK/MAPK targets;Integration of energy metabolism;PP2A-mediated dephosphorylation of key metabolic factors;ERKs are inactivated;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Regulation of TP53 Degradation;Regulation of glycolysis by fructose 2,6-bisphosphate metabolism PE1 5 +NX_P67809 Y-box-binding protein 1 324 35924 9.87 0 Cytoplasm;Extracellular exosome;Secreted;Nucleolus;Cytoplasmic vesicle;Cytosol;Cytoplasmic granule;Nucleus NA DNA- and RNA-binding protein involved in various processes, such as translational repression, RNA stabilization, mRNA splicing, DNA repair and transcription regulation (PubMed:8188694, PubMed:10817758, PubMed:11698476, PubMed:14718551, PubMed:18809583, PubMed:31358969). Predominantly acts as a RNA-binding protein: binds preferentially to the 5'-[CU]CUGCG-3' RNA motif and specifically recognizes mRNA transcripts modified by C5-methylcytosine (m5C) (PubMed:19561594, PubMed:31358969). Promotes mRNA stabilization: acts by binding to m5C-containing mRNAs and recruiting the mRNA stability maintainer ELAVL1, thereby preventing mRNA decay (PubMed:10817758, PubMed:11698476, PubMed:31358969). Component of the CRD-mediated complex that promotes MYC mRNA stability (PubMed:19029303). Contributes to the regulation of translation by modulating the interaction between the mRNA and eukaryotic initiation factors (By similarity). Plays a key role in RNA composition of extracellular exosomes by defining the sorting of small non-coding RNAs, such as tRNAs, Y RNAs, Vault RNAs and miRNAs (PubMed:27559612, PubMed:29073095). Probably sorts RNAs in exosomes by recognizing and binding C5-methylcytosine (m5C)-containing RNAs (PubMed:28341602, PubMed:29073095). Acts as a key effector of epidermal progenitors by preventing epidermal progenitor senescence: acts by regulating the translation of a senescence-associated subset of cytokine mRNAs, possibly by binding to m5C-containing mRNAs (PubMed:29712925). Also involved in pre-mRNA alternative splicing regulation: binds to splice sites in pre-mRNA and regulates splice site selection (PubMed:12604611). Also able to bind DNA: regulates transcription of the multidrug resistance gene MDR1 is enhanced in presence of the APEX1 acetylated form at 'Lys-6' and 'Lys-7' (PubMed:18809583). Binds to promoters that contain a Y-box (5'-CTGATTGGCCAA-3'), such as MDR1 and HLA class II genes (PubMed:8188694, PubMed:18809583). Promotes separation of DNA strands that contain mismatches or are modified by cisplatin (PubMed:14718551). Has endonucleolytic activity and can introduce nicks or breaks into double-stranded DNA, suggesting a role in DNA repair (PubMed:14718551). The secreted form acts as an extracellular mitogen and stimulates cell migration and proliferation (PubMed:19483673). Ubiquitinated by RBBP6; leading to a decrease of YBX1 transcactivational ability.;In the absence of phosphorylation the protein is retained in the cytoplasm.;Cleaved by a 20S proteasomal protease in response to agents that damage DNA. Cleavage takes place in the absence of ubiquitination and ATP. The resulting N-terminal fragment accumulates in the nucleus (By similarity). Belongs to the YBX1 family. mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;Noncanonical activation of NOTCH3 PE1 1 +NX_P67812 Signal peptidase complex catalytic subunit SEC11A 179 20625 9.48 1 Microsome membrane;Endoplasmic reticulum membrane NA Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum. NA Belongs to the peptidase S26B family. Protein export;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP);SRP-dependent cotranslational protein targeting to membrane;Synthesis, secretion, and deacylation of Ghrelin PE1 15 +NX_P67870 Casein kinase II subunit beta 215 24942 5.33 0 NA NA Participates in Wnt signaling (By similarity). Plays a complex role in regulating the basal catalytic activity of the alpha subunit. Phosphorylated by alpha subunit. Belongs to the casein kinase 2 subunit beta family. Ribosome biogenesis in eukaryotes;Wnt signaling pathway;Adherens junction;Tight junction;Measles;Herpes simplex infection;Synthesis of PC;Signal transduction by L1;Condensation of Prometaphase Chromosomes;WNT mediated activation of DVL;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Regulation of TP53 Activity through Phosphorylation;Neutrophil degranulation;Receptor Mediated Mitophagy;Regulation of PTEN stability and activity;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 6 +NX_P67936 Tropomyosin alpha-4 chain 248 28522 4.67 0 Cytoplasm;Cytosol;Cytoskeleton NA Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments (By similarity). Binds calcium (PubMed:1836432). NA Belongs to the tropomyosin family. Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;Striated Muscle Contraction;Smooth Muscle Contraction PE1 19 +NX_P68032 Actin, alpha cardiac muscle 1 377 42019 5.23 0 Cytoskeleton Cardiomyopathy, familial hypertrophic 11;Atrial septal defect 5;Cardiomyopathy, dilated 1R Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. Oxidation of Met-46 and Met-49 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promotes actin repolymerization.;Methylated at His-75 by SETD3.;Monomethylation at Lys-86 (K86me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration.;(Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-52 of one monomer and Glu-272 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148). Belongs to the actin family. Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;Striated Muscle Contraction PE1 15 +NX_P68036 Ubiquitin-conjugating enzyme E2 L3 154 17862 8.68 0 Cytoplasm;Nucleus NA Ubiquitin-conjugating enzyme E2 that specifically acts with HECT-type and RBR family E3 ubiquitin-protein ligases. Does not function with most RING-containing E3 ubiquitin-protein ligases because it lacks intrinsic E3-independent reactivity with lysine: in contrast, it has activity with the RBR family E3 enzymes, such as PRKN and ARIH1, that function like function like RING-HECT hybrids. Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'-linked polyubiquitination. Involved in the selective degradation of short-lived and abnormal proteins. Down-regulated during the S-phase it is involved in progression through the cell cycle. Regulates nuclear hormone receptors transcriptional activity. May play a role in myelopoiesis. Ubiquitinated. The alteration of UBE2L3 protein levels during the S-phase of the cell cycle is due to ubiquitin-dependent proteasomal degradation. Autoubiquitinated in vitro (PubMed:22496338). Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Parkinson's disease;Antigen processing: Ubiquitination & Proteasome degradation;Synthesis of active ubiquitin: roles of E1 and E2 enzymes;E3 ubiquitin ligases ubiquitinate target proteins PE1 22 +NX_P68104 Elongation factor 1-alpha 1 462 50141 9.1 0 Cytoplasm;Nucleolus;Nucleus;Cell membrane NA This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. With PARP1 and TXK, forms a complex that acts as a T helper 1 (Th1) cell-specific transcription factor and binds the promoter of IFN-gamma to directly regulate its transcription, and is thus involved importantly in Th1 cytokine production. Phosphorylated by TXK. Phosphorylation by PASK increases translation efficiency. Phosphorylated by ROCK2 (PubMed:26497934).;ISGylated.;Trimethylated at Lys-79 by EEF1AKMT1 (PubMed:26545399). Methylated at Lys-165 by EEF1AKMT3, methylation by EEF1AKMT3 is dynamic as well as inducible by stress conditions, such as ER-stress, and plays a regulatory role on mRNA translation (PubMed:28108655). Trimethylated at Lys-318 by EEF1AKMT2 (PubMed:25144183). Mono-, di-, and trimethylated at Lys-36 by EEF1AKMT4; trimethylated form is predominant. Methylation by EEF1AKMT4 contributes to the fine-tuning of translation rates for a subset of tRNAs (PubMed:28520920). Trimethylated at Gly-2 by EEF1AKNMT (PubMed:30143613). Mono- and dimethylated at Lys-55 by EEF1AKNMT; dimethylated form is predominant (PubMed:30143613, PubMed:30612740).;EEF1A1 is phosphorylated by TXK (Phosphotyrosine:PTM-0255);EEF1A1 is phosphorylated by RAF1 (Phosphoserine,Phosphothreonine:PTM-0253,PTM-0254) Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily. RNA transport;Legionellosis;Peptide chain elongation;HSF1 activation;Eukaryotic Translation Elongation;Neutrophil degranulation;Protein methylation;Chaperone Mediated Autophagy PE1 6 +NX_P68106 Peptidyl-prolyl cis-trans isomerase FKBP1B 108 11783 8.62 0 Sarcoplasmic reticulum;Cytoplasm;Cytoplasmic vesicle NA Has the potential to contribute to the immunosuppressive and toxic effects of FK506 and rapamycin. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. NA Belongs to the FKBP-type PPIase family. FKBP1 subfamily. Stimuli-sensing channels;Ion homeostasis PE1 2 +NX_P68133 Actin, alpha skeletal muscle 377 42051 5.23 0 Cytoskeleton Myopathy, actin, congenital, with excess of thin myofilaments;Nemaline myopathy 3;Myopathy, scapulohumeroperoneal;Myopathy, congenital, with fiber-type disproportion Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. Oxidation of Met-46 and Met-49 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promotes actin repolymerization.;Methylated at His-75 by SETD3.;(Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-52 of one monomer and Glu-272 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148).;Monomethylation at Lys-86 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration. Belongs to the actin family. Striated Muscle Contraction PE1 1 +NX_P68363 Tubulin alpha-1B chain 451 50152 4.94 0 Cytoplasm;Cytoskeleton NA Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. Methylation of alpha chains at Lys-40 is found in mitotic microtubules and is required for normal mitosis and cytokinesis contributing to genomic stability.;Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).;Nitration of Tyr-451 is irreversible and interferes with normal dynein intracellular distribution.;Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).;Acetylation of alpha chains at Lys-40 is located inside the microtubule lumen. This modification has been correlated with increased microtubule stability, intracellular transport and ciliary assembly.;Detyrosinated tubulin alpha-1B chain: Detyrosination is involved in metaphase plate congression by guiding chromosomes during mitosis: detyrosination promotes interaction with CENPE, promoting pole-proximal transport of chromosomes toward the equator (PubMed:25908662). Detyrosination increases microtubules-dependent mechanotransduction in dystrophic cardiac and skeletal muscle. In cardiomyocytes, detyrosinated microtubules are required to resist to contractile compression during contraction: detyrosination promotes association with desmin (DES) at force-generating sarcomeres, leading to buckled microtubules and mechanical resistance to contraction (By similarity).;Tubulin alpha-1B chain: Tyrosination promotes microtubule interaction with CAP-Gly domain-containing proteins such as CLIP1, CLIP2 and DCTN1 (By similarity). Tyrosination regulates the initiation of dynein-dynactin motility via interaction with DCTN1, which brings the dynein-dynactin complex into contact with microtubules (PubMed:26972003). In neurons, tyrosinated tubulins mediate the initiation of retrograde vesicle transport (By similarity).;Undergoes a tyrosination/detyrosination cycle, the cyclic removal and re-addition of a C-terminal tyrosine residue by the enzymes tubulin tyrosine carboxypeptidase (VASH1 or VASH2) and tubulin tyrosine ligase (TTL), respectively. Belongs to the tubulin family. Phagosome;Gap junction;Pathogenic Escherichia coli infection;Separation of Sister Chromatids;MHC class II antigen presentation;Intraflagellar transport;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Hedgehog 'off' state;Formation of tubulin folding intermediates by CCT/TriC;Post-chaperonin tubulin folding pathway;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 12 +NX_P68366 Tubulin alpha-4A chain 448 49924 4.95 0 Cytoskeleton Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. Acetylation of alpha chains at Lys-40 is located inside the microtubule lumen. This modification has been correlated with increased microtubule stability, intracellular transport and ciliary assembly.;Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).;Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).;Methylation of alpha chains at Lys-40 is found in mitotic microtubules and is required for normal mitosis and cytokinesis contributing to genomic stability.;TUBA4A is phosphorylated by ABL2 (Phosphotyrosine:PTM-0255) Belongs to the tubulin family. Phagosome;Gap junction;Pathogenic Escherichia coli infection;Separation of Sister Chromatids;Anchoring of the basal body to the plasma membrane;MHC class II antigen presentation;Intraflagellar transport;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Hedgehog 'off' state;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Post-chaperonin tubulin folding pathway;Recycling pathway of L1;Platelet degranulation;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;AURKA Activation by TPX2;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 2 +NX_P68371 Tubulin beta-4B chain 445 49831 4.79 0 Cytoplasm;Cytoskeleton Leber congenital amaurosis with early-onset deafness Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.;Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).;Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866). Belongs to the tubulin family. Phagosome;Gap junction;Pathogenic Escherichia coli infection;Separation of Sister Chromatids;Anchoring of the basal body to the plasma membrane;MHC class II antigen presentation;Intraflagellar transport;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Hedgehog 'off' state;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Post-chaperonin tubulin folding pathway;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;AURKA Activation by TPX2;COPI-dependent Golgi-to-ER retrograde traffic;Neutrophil degranulation;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 9 +NX_P68400 Casein kinase II subunit alpha 391 45144 7.29 0 Nucleus Okur-Chung neurodevelopmental syndrome Catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine. Regulates numerous cellular processes, such as cell cycle progression, apoptosis and transcription, as well as viral infection. May act as a regulatory node which integrates and coordinates numerous signals leading to an appropriate cellular response. During mitosis, functions as a component of the p53/TP53-dependent spindle assembly checkpoint (SAC) that maintains cyclin-B-CDK1 activity and G2 arrest in response to spindle damage. Also required for p53/TP53-mediated apoptosis, phosphorylating 'Ser-392' of p53/TP53 following UV irradiation. Can also negatively regulate apoptosis. Phosphorylates the caspases CASP9 and CASP2 and the apoptotic regulator NOL3. Phosphorylation protects CASP9 from cleavage and activation by CASP8, and inhibits the dimerization of CASP2 and activation of CASP8. Regulates transcription by direct phosphorylation of RNA polymerases I, II, III and IV. Also phosphorylates and regulates numerous transcription factors including NF-kappa-B, STAT1, CREB1, IRF1, IRF2, ATF1, SRF, MAX, JUN, FOS, MYC and MYB. Phosphorylates Hsp90 and its co-chaperones FKBP4 and CDC37, which is essential for chaperone function. Regulates Wnt signaling by phosphorylating CTNNB1 and the transcription factor LEF1. Acts as an ectokinase that phosphorylates several extracellular proteins. During viral infection, phosphorylates various proteins involved in the viral life cycles of EBV, HSV, HBV, HCV, HIV, CMV and HPV. Phosphorylates PML at 'Ser-565' and primes it for ubiquitin-mediated degradation. Plays an important role in the circadian clock function by phosphorylating ARNTL/BMAL1 at 'Ser-90' which is pivotal for its interaction with CLOCK and which controls CLOCK nuclear entry (PubMed:11239457, PubMed:11704824, PubMed:16193064, PubMed:19188443, PubMed:20625391, PubMed:22406621). Phosphorylates CCAR2 at 'Thr-454' in gastric carcinoma tissue (PubMed:24962073). Phosphorylated at Thr-344, Thr-360, Ser-362 and Ser-370 by CDK1 in prophase and metaphase and dephosphorylated during anaphase. Phosphorylation does not directly affect casein kinase 2 activity, but may contribute to its regulation by forming binding sites for interacting proteins and/or targeting it to different compartments. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CK2 subfamily. Ribosome biogenesis in eukaryotes;Wnt signaling pathway;Adherens junction;Tight junction;Measles;Herpes simplex infection;Synthesis of PC;Signal transduction by L1;Condensation of Prometaphase Chromosomes;WNT mediated activation of DVL;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Regulation of TP53 Activity through Phosphorylation;Receptor Mediated Mitophagy;Regulation of PTEN stability and activity;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 20 +NX_P68402 Platelet-activating factor acetylhydrolase IB subunit beta 229 25569 5.57 0 Cytoplasm;Cytosol;Nucleolus;Cell membrane NA Inactivates PAF by removing the acetyl group at the sn-2 position. This is a catalytic subunit. NA Belongs to the 'GDSL' lipolytic enzyme family. Platelet-activating factor acetylhydrolase IB beta/gamma subunits subfamily. Ether lipid metabolism;Metabolic pathways;COPI-independent Golgi-to-ER retrograde traffic;Neutrophil degranulation PE1 11 +NX_P68431 Histone H3.1 136 15404 11.13 0 Nucleus;Chromosome Glioma Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Asymmetric dimethylation at Arg-18 (H3R17me2a) by CARM1 is linked to gene activation. Symmetric dimethylation at Arg-9 (H3R8me2s) by PRMT5 is linked to gene repression. Asymmetric dimethylation at Arg-3 (H3R2me2a) by PRMT6 is linked to gene repression and is mutually exclusive with H3 Lys-5 methylation (H3K4me2 and H3K4me3). H3R2me2a is present at the 3' of genes regardless of their transcription state and is enriched on inactive promoters, while it is absent on active promoters.;Butyrylation of histones marks active promoters and competes with histone acetylation. It is present during late spermatogenesis.;Monoubiquitinated by RAG1 in lymphoid cells, monoubiquitination is required for V(D)J recombination (By similarity). Ubiquitinated by the CUL4-DDB-RBX1 complex in response to ultraviolet irradiation. This may weaken the interaction between histones and DNA and facilitate DNA accessibility to repair proteins.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Serine ADP-ribosylation constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage (PubMed:30257210). Serine ADP-ribosylation at Ser-11 (H3S10ADPr) is mutually exclusive with phosphorylation at Ser-11 (H3S10ph) and impairs acetylation at Lys-10 (H3K9ac) (PubMed:30257210).;Citrullination at Arg-9 (H3R8ci) and/or Arg-18 (H3R17ci) by PADI4 impairs methylation and represses transcription.;Methylation at Lys-5 (H3K4me), Lys-37 (H3K36me) and Lys-80 (H3K79me) are linked to gene activation. Methylation at Lys-5 (H3K4me) facilitates subsequent acetylation of H3 and H4. Methylation at Lys-80 (H3K79me) is associated with DNA double-strand break (DSB) responses and is a specific target for TP53BP1. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are linked to gene repression. Methylation at Lys-10 (H3K9me) is a specific target for HP1 proteins (CBX1, CBX3 and CBX5) and prevents subsequent phosphorylation at Ser-11 (H3S10ph) and acetylation of H3 and H4. Methylation at Lys-5 (H3K4me) and Lys-80 (H3K79me) require preliminary monoubiquitination of H2B at 'Lys-120'. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are enriched in inactive X chromosome chromatin. Monomethylation at Lys-57 (H3K56me1) by EHMT2/G9A in G1 phase promotes interaction with PCNA and is required for DNA replication.;Phosphorylated at Thr-4 (H3T3ph) by HASPIN during prophase and dephosphorylated during anaphase. Phosphorylation at Ser-11 (H3S10ph) by AURKB is crucial for chromosome condensation and cell-cycle progression during mitosis and meiosis. In addition phosphorylation at Ser-11 (H3S10ph) by RPS6KA4 and RPS6KA5 is important during interphase because it enables the transcription of genes following external stimulation, like mitogens, stress, growth factors or UV irradiation and result in the activation of genes, such as c-fos and c-jun. Phosphorylation at Ser-11 (H3S10ph), which is linked to gene activation, prevents methylation at Lys-10 (H3K9me) but facilitates acetylation of H3 and H4. Phosphorylation at Ser-11 (H3S10ph) by AURKB mediates the dissociation of HP1 proteins (CBX1, CBX3 and CBX5) from heterochromatin. Phosphorylation at Ser-11 (H3S10ph) is also an essential regulatory mechanism for neoplastic cell transformation. Phosphorylated at Ser-29 (H3S28ph) by MAP3K20 isoform 1, RPS6KA5 or AURKB during mitosis or upon ultraviolet B irradiation. Phosphorylation at Thr-7 (H3T6ph) by PRKCB is a specific tag for epigenetic transcriptional activation that prevents demethylation of Lys-5 (H3K4me) by LSD1/KDM1A. At centromeres, specifically phosphorylated at Thr-12 (H3T11ph) from prophase to early anaphase, by DAPK3 and PKN1. Phosphorylation at Thr-12 (H3T11ph) by PKN1 is a specific tag for epigenetic transcriptional activation that promotes demethylation of Lys-10 (H3K9me) by KDM4C/JMJD2C. Phosphorylation at Thr-12 (H3T11ph) by chromatin-associated CHEK1 regulates the transcription of cell cycle regulatory genes by modulating acetylation of Lys-10 (H3K9ac). Phosphorylation at Tyr-42 (H3Y41ph) by JAK2 promotes exclusion of CBX5 (HP1 alpha) from chromatin.;Succinylation at Lys-80 (H3K79succ) by KAT2A takes place with a maximum frequency around the transcription start sites of genes (PubMed:29211711). It gives a specific tag for epigenetic transcription activation (PubMed:29211711).;Lysine deamination at Lys-5 (H3K4all) to form allysine is mediated by LOXL2. Allysine formation by LOXL2 only takes place on H3K4me3 and results in gene repression.;Acetylation is generally linked to gene activation. Acetylation on Lys-10 (H3K9ac) impairs methylation at Arg-9 (H3R8me2s). Acetylation on Lys-19 (H3K18ac) and Lys-24 (H3K24ac) favors methylation at Arg-18 (H3R17me). Acetylation at Lys-123 (H3K122ac) by EP300/p300 plays a central role in chromatin structure: localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability. Belongs to the histone H3 family. Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Transcriptional regulation by small RNAs;PKMTs methylate histone lysines;RMTs methylate histone arginines;Factors involved in megakaryocyte development and platelet production;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Interleukin-7 signaling;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;HDMs demethylate histones;Chromatin modifying enzymes;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 6 +NX_P68543 UBX domain-containing protein 2A 259 29278 5.91 0 Cytoplasm;Centrosome;Nucleus NA NA NA NA NA PE1 2 +NX_P68871 Hemoglobin subunit beta 147 15998 6.74 0 Cytoplasm;Nucleus Beta-thalassemia;Sickle cell anemia;Beta-thalassemia, dominant, inclusion body type;Heinz body anemias LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure.;Involved in oxygen transport from the lung to the various peripheral tissues.;Spinorphin: functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation. Glucose reacts non-enzymatically with the N-terminus of the beta chain to form a stable ketoamine linkage. This takes place slowly and continuously throughout the 120-day life span of the red blood cell. The rate of glycation is increased in patients with diabetes mellitus.;Acetylated on Lys-60, Lys-83 and Lys-145 upon aspirin exposure.;S-nitrosylated; a nitric oxide group is first bound to Fe(2+) and then transferred to Cys-94 to allow capture of O(2). Belongs to the globin family. African trypanosomiasis;Malaria;Factors involved in megakaryocyte development and platelet production;Scavenging of heme from plasma;Erythrocytes take up carbon dioxide and release oxygen;Erythrocytes take up oxygen and release carbon dioxide;Neutrophil degranulation;Chaperone Mediated Autophagy;Microautophagy PE1 11 +NX_P69849 Nodal modulator 3 1222 134134 5.44 1 Membrane NA May antagonize Nodal signaling. NA NA NA PE2 16 +NX_P69891 Hemoglobin subunit gamma-1 147 16140 6.64 0 NA NA Gamma chains make up the fetal hemoglobin F, in combination with alpha chains. Acetylation of Gly-2 converts Hb F to the minor Hb F1. Belongs to the globin family. Factors involved in megakaryocyte development and platelet production PE1 11 +NX_P69892 Hemoglobin subunit gamma-2 147 16126 6.64 0 NA Cyanosis transient neonatal Gamma chains make up the fetal hemoglobin F, in combination with alpha chains. Acetylation of Gly-2 converts Hb F to the minor Hb F1. Belongs to the globin family. Factors involved in megakaryocyte development and platelet production PE1 11 +NX_P69905 Hemoglobin subunit alpha 142 15258 8.72 0 NA Alpha-thalassemia;Hemoglobin H disease;Heinz body anemias Involved in oxygen transport from the lung to the various peripheral tissues. The initiator Met is not cleaved in variant Thionville and is acetylated. Belongs to the globin family. African trypanosomiasis;Malaria;African trypanosomiasis;Malaria;Scavenging of heme from plasma;Erythrocytes take up carbon dioxide and release oxygen;Erythrocytes take up oxygen and release carbon dioxide PE1 16 +NX_P78310 Coxsackievirus and adenovirus receptor 365 40030 7.49 1 Cell membrane;Basolateral cell membrane;Adherens junction;Cell junction;Secreted;Tight junction NA (Microbial infection) Acts as a receptor for adenovirus type C.;Component of the epithelial apical junction complex that may function as a homophilic cell adhesion molecule and is essential for tight junction integrity. Also involved in transepithelial migration of leukocytes through adhesive interactions with JAML a transmembrane protein of the plasma membrane of leukocytes. The interaction between both receptors also mediates the activation of gamma-delta T-cells, a subpopulation of T-cells residing in epithelia and involved in tissue homeostasis and repair. Upon epithelial CXADR-binding, JAML induces downstream cell signaling events in gamma-delta T-cells through PI3-kinase and MAP kinases. It results in proliferation and production of cytokines and growth factors by T-cells that in turn stimulate epithelial tissues repair.;(Microbial infection) Acts as a receptor for Coxsackievirus B1 to B6. Palmitoylated on Cys-259 and/or Cys-260; required for proper localization to the plasma membrane.;N-glycosylated. NA Viral myocarditis;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Cell surface interactions at the vascular wall PE1 21 +NX_P78312 Protein FAM193A 1265 139988 6.04 0 Cytosol;Cell membrane NA NA NA Belongs to the FAM193 family. NA PE1 4 +NX_P78314 SH3 domain-binding protein 2 561 62244 7.67 0 Nucleoplasm;Cytoskeleton Cherubism Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism. Phosphorylated. Phosphorylation at Tyr-448 may stimulate the activity of the LYN kinase (By similarity). NA Natural killer cell mediated cytotoxicity PE1 4 +NX_P78316 Nucleolar protein 14 857 97668 7.33 0 Nucleoplasm;Nucleolus NA Involved in nucleolar processing of pre-18S ribosomal RNA. Has a role in the nuclear export of 40S pre-ribosomal subunit to the cytoplasm (By similarity). NA Belongs to the NOP14 family. rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 4 +NX_P78317 E3 ubiquitin-protein ligase RNF4 190 21319 6.59 0 Cytoplasm;Nucleoplasm;PML body;Nucleus;Cytoskeleton NA E3 ubiquitin-protein ligase which binds polysumoylated chains covalently attached to proteins and mediates 'Lys-6'-, 'Lys-11'-, 'Lys-48'- and 'Lys-63'-linked polyubiquitination of those substrates and their subsequent targeting to the proteasome for degradation. Regulates the degradation of several proteins including PML and the transcriptional activator PEA3. Involved in chromosome alignment and spindle assembly, it regulates the kinetochore CENPH-CENPI-CENPK complex by targeting polysumoylated CENPI to proteasomal degradation. Regulates the cellular responses to hypoxia and heat shock through degradation of respectively EPAS1 and PARP1. Alternatively, it may also bind DNA/nucleosomes and have a more direct role in the regulation of transcription for instance enhancing basal transcription and steroid receptor-mediated transcriptional activation. Autoubiquitinated.;Sumoylated; conjugated by one or two SUMO1 moieties. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Processing of DNA double-strand break ends PE1 4 +NX_P78318 Immunoglobulin-binding protein 1 339 39222 5.26 0 Cytoplasm;Cytoskeleton Mental retardation, X-linked, syndromic, 28 Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of the catalytic activity of the phosphatases PP2A, PP4 and PP6 by protecting their partially folded catalytic subunits from degradative polyubiquitination until they associate with regulatory subunits. Phosphorylated.;Monoubiquitination by MID1 triggers calpain-mediated cleavage and switches IGBP1 activity from protective to destructive. Belongs to the IGBP1/TAP42 family. NA PE1 X +NX_P78324 Tyrosine-protein phosphatase non-receptor type substrate 1 504 54967 6.51 1 Membrane NA Immunoglobulin-like cell surface receptor for CD47. Acts as docking protein and induces translocation of PTPN6, PTPN11 and other binding partners from the cytosol to the plasma membrane. Supports adhesion of cerebellar neurons, neurite outgrowth and glial cell attachment. May play a key role in intracellular signaling during synaptogenesis and in synaptic function (By similarity). Involved in the negative regulation of receptor tyrosine kinase-coupled cellular responses induced by cell adhesion, growth factors or insulin. Mediates negative regulation of phagocytosis, mast cell activation and dendritic cell activation. CD47 binding prevents maturation of immature dendritic cells and inhibits cytokine production by mature dendritic cells. N-glycosylated.;Phosphorylated on tyrosine residues in response to stimulation with EGF, growth hormone, insulin and PDGF. Dephosphorylated by PTPN11.;SIRPA is phosphorylated by LYN (Phosphotyrosine:PTM-0255) NA Osteoclast differentiation;Cell surface interactions at the vascular wall;Signal regulatory protein family interactions;Neutrophil degranulation PE1 20 +NX_P78325 Disintegrin and metalloproteinase domain-containing protein 8 824 88771 7.63 1 Membrane NA Possible involvement in extravasation of leukocytes. NA NA Degradation of the extracellular matrix;Neutrophil degranulation PE1 10 +NX_P78329 Cytochrome P450 4F2 520 59853 6.6 0 Microsome membrane;Endoplasmic reticulum membrane Coumarin resistance A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, eicosanoids and vitamins (PubMed:18577768, PubMed:10833273, PubMed:10660572, PubMed:11997390, PubMed:17341693, PubMed:18574070). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). Catalyzes predominantly the oxidation of the terminal carbon (omega-oxidation) of long- and very long-chain fatty acids. Displays high omega-hydroxylase activity toward polyunsaturated fatty acids (PUFAs) (PubMed:18577768). Participates in the conversion of arachidonic acid to omega-hydroxyeicosatetraenoic acid (20-HETE), a signaling molecule acting both as vasoconstrictive and natriuretic with overall effect on arterial blood pressure (PubMed:10660572, PubMed:17341693, PubMed:18574070). Plays a role in the oxidative inactivation of eicosanoids, including both proinflammatory and anti-inflammatory mediators such as leukotriene B4 (LTB4), lipoxin A4 (LXA4), and several HETEs (PubMed:8026587, PubMed:9799565, PubMed:10833273, PubMed:10660572, PubMed:17341693, PubMed:18574070, PubMed:18577768). Catalyzes omega-hydroxylation of 3-hydroxy fatty acids (PubMed:18065749). Converts monoepoxides of linoleic acid leukotoxin and isoleukotoxin to omega-hydroxylated metabolites (PubMed:15145985). Contributes to the degradation of very long-chain fatty acids (VLCFAs) by catalyzing successive omega-oxidations and chain shortening (PubMed:16547005, PubMed:18182499). Plays an important role in vitamin metabolism by chain shortening. Catalyzes omega-hydroxylation of the phytyl chain of tocopherols (forms of vitamin E), with preference for gamma-tocopherols over alpha-tocopherols, thus promoting retention of alpha-tocopherols in tissues (PubMed:11997390). Omega-hydroxylates and inactivates phylloquinone (vitamin K1), and menaquinone-4 (MK-4, a form of vitamin K2), both acting as cofactors in blood coagulation (PubMed:19297519, PubMed:24138531). NA Belongs to the cytochrome P450 family. Lipid metabolism; arachidonate metabolism.;Lipid metabolism; leukotriene B4 degradation.;Cofactor degradation; phylloquinone degradation.;Arachidonic acid metabolism;Metabolic pathways;Miscellaneous substrates;Fatty acids;Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE);Eicosanoids;Synthesis of Leukotrienes (LT) and Eoxins (EX) PE1 19 +NX_P78330 Phosphoserine phosphatase 225 25008 5.53 0 Cytosol Phosphoserine phosphatase deficiency Catalyzes the last step in the biosynthesis of serine from carbohydrates. The reaction mechanism proceeds via the formation of a phosphoryl-enzyme intermediates. NA Belongs to the HAD-like hydrolase superfamily. SerB family. Amino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glycerate: step 3/3.;Glycine, serine and threonine metabolism;Metabolic pathways;Serine biosynthesis PE1 7 +NX_P78332 RNA-binding protein 6 1123 128644 5.93 0 Cytosol;Nucleus speckle;Nucleus NA Specifically binds poly(G) RNA homopolymers in vitro. NA NA NA PE1 3 +NX_P78333 Glypican-5 572 63707 6.38 0 Nucleoplasm;Cytosol;Cell membrane;Extracellular space NA Cell surface proteoglycan that bears heparan sulfate. NA Belongs to the glypican family. Retinoid metabolism and transport;HS-GAG biosynthesis;A tetrasaccharide linker sequence is required for GAG synthesis;HS-GAG degradation;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;Defective EXT2 causes exostoses 2;Defective EXT1 causes exostoses 1, TRPS2 and CHDS;Release of Hh-Np from the secreting cell;Defective B3GALT6 causes EDSP2 and SEMDJL1 PE1 13 +NX_P78334 Gamma-aminobutyric acid receptor subunit epsilon 506 57972 8.36 4 Postsynaptic cell membrane;Cell membrane NA GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRE sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse PE2 X +NX_P78337 Pituitary homeobox 1 314 34128 9.13 0 Nucleolus;Nucleus Liebenberg syndrome;Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb. NA Belongs to the paired homeobox family. Bicoid subfamily. NA PE1 5 +NX_P78344 Eukaryotic translation initiation factor 4 gamma 2 907 102362 6.7 0 Cytosol NA Appears to play a role in the switch from cap-dependent to IRES-mediated translation during mitosis, apoptosis and viral infection. Cleaved by some caspases and viral proteases. Phosphorylation; hyperphosphorylated during mitosis. Belongs to the eukaryotic initiation factor 4G family. RNA transport;Viral myocarditis;ISG15 antiviral mechanism PE1 11 +NX_P78345 Ribonuclease P protein subunit p38 283 31834 9.94 0 Nucleolus NA Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:9037013, PubMed:9630247, PubMed:10444065, PubMed:30454648). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465). NA Belongs to the eukaryotic ribosomal protein eL8 family. Ribosome biogenesis in eukaryotes;RNA transport;tRNA processing in the nucleus;Major pathway of rRNA processing in the nucleolus and cytosol PE1 10 +NX_P78346 Ribonuclease P protein subunit p30 268 29321 9.11 0 Nucleoplasm;Cytosol;Nucleolus;Cytoskeleton NA Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:9037013, PubMed:9630247, PubMed:30454648). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465). NA Belongs to the eukaryotic/archaeal RNase P protein component 3 family. Ribosome biogenesis in eukaryotes;RNA transport;tRNA processing in the nucleus;Major pathway of rRNA processing in the nucleolus and cytosol PE1 10 +NX_P78347 General transcription factor II-I 998 112416 6.09 0 Cytoplasm;Nucleoplasm;Nucleus NA Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation. Sumoylated.;Transiently phosphorylated on tyrosine residues by BTK in response to B-cell receptor stimulation. Phosphorylation on Tyr-248 and Tyr-398, and perhaps, on Tyr-503 contributes to BTK-mediated transcriptional activation.;GTF2I is phosphorylated by ITK (Phosphotyrosine:PTM-0255);GTF2I is phosphorylated by BTK (Phosphotyrosine:PTM-0255) Belongs to the TFII-I family. Basal transcription factors;Herpes simplex infection PE1 7 +NX_P78348 Acid-sensing ion channel 1 528 59909 5.48 2 Golgi apparatus;Cell membrane NA Function as proton-gated sodium channels; they are activated by a drop of the extracellular pH and then become rapidly desensitized. The channel generates a biphasic current with a fast inactivating and a slow sustained phase. Has high selectivity for sodium ions and can also transport lithium ions with high efficiency.;Does not display proton-gated cation channel activity.;Can also transport calcium ions. Mediates glutamate-independent Ca(2+) entry into neurons upon acidosis. This Ca(2+) overloading is toxic for cortical neurons and may be in part responsible for ischemic brain injury. Heteromeric channel assembly seems to modulate channel properties. Functions as a postsynaptic proton receptor that influences intracellular Ca(2+) concentration and calmodulin-dependent protein kinase II phosphorylation and thereby the density of dendritic spines. Modulates activity in the circuits underlying innate fear.;Can also transport potassium, but with lower efficiency. It is nearly impermeable to the larger rubidium and cesium ions. Phosphorylation by PKA regulates interaction with PRKCABP and subcellular location. Phosphorylation by PKC may regulate the channel. Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC1 subfamily. Stimuli-sensing channels PE1 12 +NX_P78352 Disks large homolog 4 724 80495 5.58 0 Cytoplasm;Dendritic spine;Cell membrane;Presynapse;Postsynaptic density;Synapse;Axon;Dendrite NA Interacts with the cytoplasmic tail of NMDA receptor subunits and shaker-type potassium channels. Required for synaptic plasticity associated with NMDA receptor signaling. Overexpression or depletion of DLG4 changes the ratio of excitatory to inhibitory synapses in hippocampal neurons. May reduce the amplitude of ASIC3 acid-evoked currents by retaining the channel intracellularly. May regulate the intracellular trafficking of ADR1B. Also regulates AMPA-type glutamate receptor (AMPAR) immobilization at postsynaptic density keeping the channels in an activated state in the presence of glutamate and preventing synaptic depression. Ubiquitinated by MDM2 in response to NMDA receptor activation, leading to proteasome-mediated degradation of DLG4 which is required for AMPA receptor endocytosis.;Palmitoylated (PubMed:26701913). Palmitoylation is required for targeting to postsynaptic density, plasma membrane and synapses (By similarity). Palmitoylation may play a role in glutamate receptor GRIA1 synapse clustering (By similarity). Depalmitoylated by ABHD17A and ABHD17B and to a lesser extent by ABHD17C, ABHD12, ABHD13, LYPLA1 and LYPLA2 (PubMed:26701913). Undergoes rapid synaptic palmitoylation/depalmitoylation cycles during neuronal development which slow down in mature neurons (By similarity). Belongs to the MAGUK family. Glutamatergic synapse;Huntington's disease;RAF/MAP kinase cascade;Unblocking of NMDA receptors, glutamate binding and activation;Ras activation upon Ca2+ influx through NMDA receptor;Signaling by ERBB4;Trafficking of AMPA receptors;LGI-ADAM interactions;NrCAM interactions;Activation of Ca-permeable Kainate Receptor;RHO GTPases activate CIT;Synaptic adhesion-like molecules;Neurexins and neuroligins;Assembly and cell surface presentation of NMDA receptors;Negative regulation of NMDA receptor-mediated neuronal transmission;Long-term potentiation PE1 17 +NX_P78356 Phosphatidylinositol 5-phosphate 4-kinase type-2 beta 416 47378 6.9 0 Cytoplasm;Endoplasmic reticulum membrane;Cell membrane;Nucleoplasm;Nucleus NA Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. Ubiquitinated by the SPOP/CUL3 complex. Ubiquitination is stimulated by PtdIns5P levels. NA Inositol phosphate metabolism;Phosphatidylinositol signaling system;Regulation of actin cytoskeleton;Synthesis of PIPs at the plasma membrane;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;PI5P Regulates TP53 Acetylation;Synthesis of PIPs in the nucleus PE1 17 +NX_P78357 Contactin-associated protein 1 1384 156267 6.61 1 Membrane;Nucleoplasm;Paranodal septate junction Lethal congenital contracture syndrome 7;Neuropathy, congenital hypomyelinating, 3 Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cells. NA Belongs to the neurexin family. Cell adhesion molecules (CAMs);Neurofascin interactions PE1 17 +NX_P78358 Cancer/testis antigen 1 180 17992 8.79 0 Cytoplasm NA NA NA Belongs to the CTAG/PCC1 family. NA PE1 X +NX_P78362 SRSF protein kinase 2 688 77527 4.87 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains and is involved in the phosphorylation of SR splicing factors and the regulation of splicing. Promotes neuronal apoptosis by up-regulating cyclin-D1 (CCND1) expression. This is done by the phosphorylation of SRSF2, leading to the suppression of p53/TP53 phosphorylation thereby relieving the repressive effect of p53/TP53 on cyclin-D1 (CCND1) expression. Phosphorylates ACIN1, and redistributes it from the nuclear speckles to the nucleoplasm, resulting in cyclin A1 but not cyclin A2 up-regulation. Plays an essential role in spliceosomal B complex formation via the phosphorylation of DDX23/PRP28. Can mediate hepatitis B virus (HBV) core protein phosphorylation. Plays a negative role in the regulation of HBV replication through a mechanism not involving the phosphorylation of the core protein but by reducing the packaging efficiency of the pregenomic RNA (pgRNA) without affecting the formation of the viral core particles. Proteolytically cleaved at Asp-139 and Asp-403 by caspase-3 during apoptotic cell death. Cleavage at Asp-139 which is the major site of cleavage, produces a small N-terminal fragment that translocates into nucleus and promotes VP16-induced apoptosis.;Phosphorylation at Thr-492 by PKB/AKT1 enhances its stimulatory activity in triggering cyclin-D1 (CCND1) expression and promoting apoptosis in neurons, which can be blocked by YWHAB. It also enhances its protein kinase activity toward ACIN1 and SRSF2, promotes its nuclear translocation and prevents its proteolytic cleavage. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. NA PE1 7 +NX_P78363 Retinal-specific phospholipid-transporting ATPase ABCA4 2273 255944 5.89 12 Membrane;Endoplasmic reticulum Macular degeneration, age-related, 2;Stargardt disease 1;Cone-rod dystrophy 3;Fundus flavimaculatus;Retinitis pigmentosa 19 Catalyzes the translocation of specific phospholipids from the extracellular/lumenal to the cytoplasmic leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Transports preferentially phosphatidylethanolamine (PubMed:24097981). In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans-retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery. NA Belongs to the ABC transporter superfamily. ABCA family. ABC transporters;The canonical retinoid cycle in rods (twilight vision);ABC-family proteins mediated transport;Retinoid cycle disease events PE1 1 +NX_P78364 Polyhomeotic-like protein 1 1004 105534 9.17 0 Nucleoplasm;Nucleus Microcephaly 11, primary, autosomal recessive Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Required for proper control of cellular levels of GMNN expression. NA NA SUMOylation of DNA damage response and repair proteins;Oxidative Stress Induced Senescence;SUMOylation of RNA binding proteins;SUMOylation of chromatin organization proteins;Transcriptional Regulation by E2F6;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known;Regulation of PTEN gene transcription;SUMOylation of transcription cofactors;SUMOylation of DNA methylation proteins PE1 12 +NX_P78367 Homeobox protein Nkx-3.2 333 34814 8.12 0 Nucleoplasm;Nucleus Spondylo-megaepiphyseal-metaphyseal dysplasia Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring and gonium development and in the regulation of the width of the malleus (By similarity). NA Belongs to the NK-3 homeobox family. Regulation of RUNX2 expression and activity PE1 4 +NX_P78368 Casein kinase I isoform gamma-2 415 47457 9.16 0 Cytoplasmic vesicle;Cytoplasm NA Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates COL4A3BP/CERT, MTA1 and SMAD3. Involved in brain development and vesicular trafficking and neurotransmitter releasing from small synaptic vesicles. Regulates fast synaptic transmission mediated by glutamate. SMAD3 phosphorylation promotes its ligand-dependent ubiquitination and subsequent proteasome degradation, thus inhibiting SMAD3-mediated TGF-beta responses. Hyperphosphorylation of the serine-repeat motif of COL4A3BP/CERT leads to its inactivation by dissociation from the Golgi complex, thus down-regulating ER-to-Golgi transport of ceramide and sphingomyelin synthesis. Triggers PER1 proteasomal degradation probably through phosphorylation. Autophosphorylated. Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. Casein kinase I subfamily. Hedgehog signaling pathway;Sphingolipid de novo biosynthesis;Disassembly of the destruction complex and recruitment of AXIN to the membrane PE1 19 +NX_P78369 Claudin-10 228 24488 8.32 4 Tight junction;Cell membrane HELIX syndrome Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Involved in the regulation of paracellular epithelia permeability to ions in multiple organs. It acts as a paracellular ion channel probably forming permselective pores; isoform 1 appears to create pores preferentially permeable to cations and isoform 2 for anions. In sweat glands and in the thick ascending limb (TAL) of Henle's loop in kidney, it controls paracellular sodium permeability which is essential for proper sweat production and renal function (PubMed:19383724, PubMed:28771254, PubMed:28686597). NA Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE1 13 +NX_P78371 T-complex protein 1 subunit beta 535 57488 6.01 0 Cytoplasm;Cytosol NA Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable). NA Belongs to the TCP-1 chaperonin family. BBSome-mediated cargo-targeting to cilium;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Folding of actin by CCT/TriC;Association of TriC/CCT with target proteins during biosynthesis;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Neutrophil degranulation PE1 12 +NX_P78380 Oxidized low-density lipoprotein receptor 1 273 30959 6.94 1 Cell membrane;Secreted;Nucleoplasm;Cytoplasmic vesicle;Membrane raft NA Receptor that mediates the recognition, internalization and degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. OxLDL is a marker of atherosclerosis that induces vascular endothelial cell activation and dysfunction, resulting in pro-inflammatory responses, pro-oxidative conditions and apoptosis. Its association with oxLDL induces the activation of NF-kappa-B through an increased production of intracellular reactive oxygen and a variety of pro-atherogenic cellular responses including a reduction of nitric oxide (NO) release, monocyte adhesion and apoptosis. In addition to binding oxLDL, it acts as a receptor for the HSP70 protein involved in antigen cross-presentation to naive T-cells in dendritic cells, thereby participating in cell-mediated antigen cross-presentation. Also involved in inflammatory process, by acting as a leukocyte-adhesion molecule at the vascular interface in endotoxin-induced inflammation. Also acts as a receptor for advanced glycation end (AGE) products, activated platelets, monocytes, apoptotic cells and both Gram-negative and Gram-positive bacteria. N-glycosylated.;The intrachain disulfide-bonds prevent N-glycosylation at some sites. NA PPAR signaling pathway;Phagosome;Cell surface interactions at the vascular wall;Neutrophil degranulation PE1 12 +NX_P78381 UDP-galactose translocator 396 41307 9.98 10 Golgi apparatus;Golgi apparatus membrane Congenital disorder of glycosylation 2M Transports nucleotide sugars from the cytosol into Golgi vesicles where glycosyltransferases function. NA Belongs to the nucleotide-sugar transporter family. SLC35A subfamily. Transport of nucleotide sugars;Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M) PE1 X +NX_P78382 CMP-sialic acid transporter 337 36779 9.11 10 Golgi apparatus membrane Congenital disorder of glycosylation 2F Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function (PubMed:15576474). Efficient CMP-sialic acid uptake depends on the presence of free CMP inside the vesicles, suggesting the proteins functions as an antiporter. Binds both CMP-sialic acid and free CMP, but has higher affinity for free CMP (By similarity). NA Belongs to the nucleotide-sugar transporter family. SLC35A subfamily. Transport of nucleotide sugars;Sialic acid metabolism;Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F);Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F) PE1 6 +NX_P78383 Solute carrier family 35 member B1 322 35760 9.36 8 Endoplasmic reticulum;Nucleoplasm;Endoplasmic reticulum membrane;Cytoplasmic vesicle NA Probable sugar transporter. NA Belongs to the nucleotide-sugar transporter family. SLC35B subfamily. NA PE1 17 +NX_P78385 Keratin, type II cuticular Hb3 493 54195 5.54 0 NA Monilethrix;Erythrokeratodermia variabilis et progressiva 5 NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_P78386 Keratin, type II cuticular Hb5 507 55802 6.27 0 NA Ectodermal dysplasia 4, hair/nail type NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_P78395 Melanoma antigen preferentially expressed in tumors 509 57890 6.44 0 Nucleoplasm;Nucleus;Cell membrane NA Functions as a transcriptional repressor, inhibiting the signaling of retinoic acid through the retinoic acid receptors RARA, RARB and RARG. Prevents retinoic acid-induced cell proliferation arrest, differentiation and apoptosis. NA Belongs to the PRAME family. NA PE1 22 +NX_P78396 Cyclin-A1 465 52358 4.99 0 Nucleoplasm;Nucleus;Cytoskeleton NA May be involved in the control of the cell cycle at the G1/S (start) and G2/M (mitosis) transitions. May primarily function in the control of the germline meiotic cell cycle and additionally in the control of mitotic cell cycle in some somatic cells. Polyubiquitinated via 'Lys-11'-linked ubiquitin by the anaphase-promoting complex (APC/C), leading to its degradation by the proteasome. Deubiquitinated and stabilized by USP37 enables entry into S phase. Belongs to the cyclin family. Cyclin AB subfamily. Cell cycle;Progesterone-mediated oocyte maturation;Pathways in cancer;Acute myeloid leukemia;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;SCF(Skp2)-mediated degradation of p27/p21;G0 and Early G1;G1/S-Specific Transcription;Cyclin A/B1/B2 associated events during G2/M transition;Regulation of APC/C activators between G1/S and early anaphase;Cyclin A:Cdk2-associated events at S phase entry;Phosphorylation of proteins involved in the G2/M transition by Cyclin A:Cdc2 complexes;G2 Phase;p53-Dependent G1 DNA Damage Response;Processing of DNA double-strand break ends;Regulation of TP53 Activity through Phosphorylation;TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest;Regulation of TP53 Degradation;Ub-specific processing proteases PE1 13 +NX_P78406 mRNA export factor 368 40968 7.96 0 Cytoplasm;Nucleolus;Nucleoplasm;Spindle pole;Nucleus NA Plays a role in mitotic bipolar spindle formation (PubMed:17172455). Binds mRNA. May function in nucleocytoplasmic transport and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton. NA Belongs to the WD repeat rae1 family. RNA transport;Influenza A;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 20 +NX_P78410 Butyrophilin subfamily 3 member A2 334 36428 5.23 1 Cell membrane NA Plays a role in T-cell responses in the adaptive immune response. Inhibits the release of IFNG from activated T-cells. N-glycosylated. Belongs to the immunoglobulin superfamily. BTN/MOG family. Butyrophilin (BTN) family interactions PE1 6 +NX_P78411 Iroquois-class homeodomain protein IRX-5 483 50361 6.03 0 Cytosol;Nucleus speckle;Nucleus;Cytoskeleton Hamamy syndrome Establishes the cardiac repolarization gradient by its repressive actions on the KCND2 potassium-channel gene. Required for retinal cone bipolar cell differentiation. May regulate contrast adaptation in the retina and control specific aspects of visual function in circuits of the mammalian retina (By similarity). Could be involved in the regulation of both the cell cycle and apoptosis in prostate cancer cells. Involved in craniofacial and gonadal development. Modulates the migration of progenitor cell populations in branchial arches and gonads by repressing CXCL12. NA Belongs to the TALE/IRO homeobox family. NA PE1 16 +NX_P78412 Iroquois-class homeodomain protein IRX-6 446 48240 5.81 0 Nucleoplasm;Mitochondrion;Nucleus NA NA NA Belongs to the TALE/IRO homeobox family. NA PE2 16 +NX_P78413 Iroquois-class homeodomain protein IRX-4 519 54445 5.84 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Likely to be an important mediator of ventricular differentiation during cardiac development. NA Belongs to the TALE/IRO homeobox family. NA PE1 5 +NX_P78414 Iroquois-class homeodomain protein IRX-1 480 49621 5.78 0 Golgi apparatus;Nucleoplasm;Nucleus NA NA NA Belongs to the TALE/IRO homeobox family. NA PE1 5 +NX_P78415 Iroquois-class homeodomain protein IRX-3 501 52119 4.88 0 Cytoplasmic vesicle;Nucleus NA Transcription factor involved in SHH-dependent neural patterning. Together with NKX2-2 and NKX6-1 acts to restrict the generation of motor neurons to the appropriate region of the neural tube. Belongs to the class I proteins of neuronal progenitor factors, which are repressed by SHH signals. Involved in the transcriptional repression of MNX1 in non-motor neuron cells. Acts as a regulator of energy metabolism. NA Belongs to the TALE/IRO homeobox family. NA PE1 16 +NX_P78417 Glutathione S-transferase omega-1 241 27566 6.24 0 Nucleoplasm;Cytosol NA Exhibits glutathione-dependent thiol transferase and dehydroascorbate reductase activities. Has S-(phenacyl)glutathione reductase activity. Has also glutathione S-transferase activity. Participates in the biotransformation of inorganic arsenic and reduces monomethylarsonic acid (MMA) and dimethylarsonic acid. NA Belongs to the GST superfamily. Omega family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Methylation;Glutathione conjugation;Vitamin C (ascorbate) metabolism;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 10 +NX_P78423 Fractalkine 397 42203 6.08 1 Secreted;Cell membrane NA Acts as a ligand for both CX3CR1 and integrins. Binds to CX3CR1 (PubMed:23125415, PubMed:9931005, PubMed:21829356). Binds to integrins ITGAV:ITGB3 and ITGA4:ITGB1. Can activate integrins in both a CX3CR1-dependent and CX3CR1-independent manner. In the presence of CX3CR1, activates integrins by binding to the classical ligand-binding site (site 1) in integrins. In the absence of CX3CR1, binds to a second site (site 2) in integrins which is distinct from site 1 and enhances the binding of other integrin ligands to site 1 (PubMed:23125415, PubMed:24789099). The soluble form is chemotactic for T-cells and monocytes and not for neutrophils. The membrane-bound form promotes adhesion of those leukocytes to endothelial cells. May play a role in regulating leukocyte adhesion and migration processes at the endothelium (PubMed:9024663, PubMed:9177350). A soluble short 95 kDa form may be released by proteolytic cleavage from the long membrane-anchored form.;O-glycosylated with core 1 or possibly core 8 glycans. Belongs to the intercrine delta family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 16 +NX_P78424 POU domain, class 6, transcription factor 2 691 73265 7.31 0 Nucleus Hereditary susceptibility to Wilms tumor 5 Does not bind DNA.;Probable transcription factor likely to be involved in early steps in the differentiation of amacrine and ganglion cells. Recognizes and binds to the DNA sequence 5'-ATGCAAAT-3'. NA Belongs to the POU transcription factor family. Class-6 subfamily. NA PE1 7 +NX_P78426 Homeobox protein Nkx-6.1 367 37849 9.46 0 Nucleoplasm;Nucleus NA Transcription factor which binds to specific A/T-rich DNA sequences in the promoter regions of a number of genes. Involved in the development of insulin-producing beta cells in the islets of Langerhans at the secondary transition (By similarity). Together with NKX2-2 and IRX3 acts to restrict the generation of motor neurons to the appropriate region of the neural tube. Belongs to the class II proteins of neuronal progenitor factors, which are induced by SHH signals (By similarity). NA NA Maturity onset diabetes of the young;Regulation of gene expression in beta cells;Regulation of gene expression in early pancreatic precursor cells PE1 4 +NX_P78504 Protein jagged-1 1218 133799 5.7 1 Membrane;Golgi apparatus;Cell membrane Tetralogy of Fallot;Alagille syndrome 1;Deafness, congenital heart defects, and posterior embryotoxon Ligand for multiple Notch receptors and involved in the mediation of Notch signaling (PubMed:18660822, PubMed:20437614). May be involved in cell-fate decisions during hematopoiesis (PubMed:9462510). Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro). NA NA Notch signaling pathway;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activated NOTCH1 Transmits Signal to the Nucleus;Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant;Constitutive Signaling by NOTCH1 HD Domain Mutants;NOTCH2 Activation and Transmission of Signal to the Nucleus;RUNX3 regulates NOTCH signaling;NOTCH3 Activation and Transmission of Signal to the Nucleus;NOTCH4 Activation and Transmission of Signal to the Nucleus PE1 20 +NX_P78508 ATP-sensitive inward rectifier potassium channel 10 379 42508 8.18 2 Membrane;Basolateral cell membrane Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance May be responsible for potassium buffering action of glial cells in the brain. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (By similarity). In the kidney, together with KCNJ16, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules. NA Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ10 subfamily. Gastric acid secretion;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Potassium transport channels PE1 1 +NX_P78509 Reelin 3460 388388 5.54 0 Extracellular matrix;Focal adhesion;Cell membrane Lissencephaly 2;Epilepsy, familial temporal lobe, 7 Extracellular matrix serine protease that plays a role in layering of neurons in the cerebral cortex and cerebellum. Regulates microtubule function in neurons and neuronal migration. Affects migration of sympathetic preganglionic neurons in the spinal cord, where it seems to act as a barrier to neuronal migration. Enzymatic activity is important for the modulation of cell adhesion. Binding to the extracellular domains of lipoprotein receptors VLDLR and LRP8/APOER2 induces tyrosine phosphorylation of DAB1 and modulation of TAU phosphorylation (By similarity). NA Belongs to the reelin family. Focal adhesion;ECM-receptor interaction;Reelin signalling pathway PE1 7 +NX_P78524 Suppression of tumorigenicity 5 protein 1137 126485 9.35 0 Nucleoplasm;Cell cortex;Recycling endosome;Cell membrane NA May block ERK2 activation stimulated by ABL1 (Probable). May alter cell morphology and cell growth (Probable).;Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.;May be involved in cytoskeletal organization and tumorogenicity. Seems to be involved in a signaling transduction pathway leading to activation of MAPK1/ERK2. Plays a role in EGFR trafficking from recycling endosomes back to the cell membrane (PubMed:29030480). Phosphorylated. Phosphorylation decreases ITSN1 binding. NA RAB GEFs exchange GTP for GDP on RABs PE1 11 +NX_P78527 DNA-dependent protein kinase catalytic subunit 4128 469089 6.75 0 Nucleoplasm;Nucleolus;Nucleus Immunodeficiency 26 with or without neurologic abnormalities Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination (PubMed:11955432, PubMed:12649176, PubMed:14734805). Must be bound to DNA to express its catalytic properties. Promotes processing of hairpin DNA structures in V(D)J recombination by activation of the hairpin endonuclease artemis (DCLRE1C) (PubMed:11955432). The assembly of the DNA-PK complex at DNA ends is also required for the NHEJ ligation step (PubMed:15574326, PubMed:11955432, PubMed:12649176, PubMed:14734805). Required to protect and align broken ends of DNA (PubMed:15574326, PubMed:11955432, PubMed:12649176, PubMed:14734805). May also act as a scaffold protein to aid the localization of DNA repair proteins to the site of damage (PubMed:15574326, PubMed:11955432, PubMed:12649176, PubMed:14734805). Found at the ends of chromosomes, suggesting a further role in the maintenance of telomeric stability and the prevention of chromosomal end fusion. Also involved in modulation of transcription (PubMed:15574326, PubMed:11955432, PubMed:12649176, PubMed:14734805). Recognizes the substrate consensus sequence [ST]-Q (PubMed:15574326, PubMed:11955432, PubMed:12649176, PubMed:14734805). Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX, thereby regulating DNA damage response mechanism (PubMed:14627815, PubMed:16046194). Phosphorylates DCLRE1C, c-Abl/ABL1, histone H1, HSPCA, c-jun/JUN, p53/TP53, PARP1, POU2F1, DHX9, FH, SRF, XRCC1, XRCC1, XRCC4, XRCC5, XRCC6, WRN, MYC and RFA2 (PubMed:2507541, PubMed:2247066, PubMed:1597196, PubMed:8407951, PubMed:8464713, PubMed:9362500, PubMed:9139719, PubMed:10026262, PubMed:10467406, PubMed:12509254, PubMed:11889123, PubMed:14612514, PubMed:14704337, PubMed:16397295, PubMed:26237645, PubMed:28712728). Can phosphorylate C1D not only in the presence of linear DNA but also in the presence of supercoiled DNA (PubMed:9679063). Ability to phosphorylate p53/TP53 in the presence of supercoiled DNA is dependent on C1D (PubMed:9363941). Contributes to the determination of the circadian period length by antagonizing phosphorylation of CRY1 'Ser-588' and increasing CRY1 protein stability, most likely through an indirect mechanism (By similarity). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728). Autophosphorylated on Ser-2056, Thr-2609, Thr-2638 and Thr-2647. Ser-2056 and Thr-2609 are DNA damage-inducible phosphorylation sites (inducible with ionizing radiation, IR) dephosphorylated by PPP5C. Autophosphorylation induces a conformational change that leads to remodeling of the DNA-PK complex, requisite for efficient end processing and DNA repair.;Polyubiquitinated by RNF144A, leading to proteasomal degradation.;S-nitrosylated by GAPDH.;PRKDC is phosphorylated by LYN (Phosphotyrosine:PTM-0255);PRKDC is phosphorylated by PRKCD;PRKDC is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255) Belongs to the PI3/PI4-kinase family. Non-homologous end-joining;Cell cycle;Cytosolic sensors of pathogen-associated DNA;IRF3-mediated induction of type I IFN;Nonhomologous End-Joining (NHEJ);E3 ubiquitin ligases ubiquitinate target proteins PE1 8 +NX_P78536 Disintegrin and metalloproteinase domain-containing protein 17 824 93021 5.5 1 Membrane;Cytosol Inflammatory skin and bowel disease, neonatal, 1 Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form (PubMed:9034191). Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface (PubMed:20592283). Responsible for the proteolytic release of several other cell-surface proteins, including p75 TNF-receptor, interleukin 1 receptor type II, p55 TNF-receptor, transforming growth factor-alpha, L-selectin, growth hormone receptor, MUC1 and the amyloid precursor protein (PubMed:12441351). Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membrane-associated intermediate fragment called Notch extracellular truncation (NEXT) (PubMed:24226769). Plays a role in the proteolytic processing of ACE2 (PubMed:24227843). Plays a role in hemostasis through shedding of GP1BA, the platelet glycoprotein Ib alpha chain (By similarity). Mediates the proteolytic cleavage of LAG3, leading to release the secreted form of LAG3 (By similarity). The precursor is cleaved by a furin endopeptidase.;Phosphorylated. Stimulation by growth factor or phorbol 12-myristate 13-acetate induces phosphorylation of Ser-819 but decreases phosphorylation of Ser-791. Phosphorylation at THR-735 by MAPK14 is required for ADAM17-mediated ectodomain shedding. NA Notch signaling pathway;Alzheimer's disease;Epithelial cell signaling in Helicobacter pylori infection;Collagen degradation;Nuclear signaling by ERBB4;Growth hormone receptor signaling;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activated NOTCH1 Transmits Signal to the Nucleus;Signaling by EGFR;Regulated proteolysis of p75NTR;Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant;Constitutive Signaling by NOTCH1 HD Domain Mutants;Release of Hh-Np from the secreting cell;TNF signaling PE1 2 +NX_P78537 Biogenesis of lysosome-related organelles complex 1 subunit 1 153 17263 9.37 0 Mitochondrion intermembrane space;Mitochondrion matrix;Lysosome membrane;Cytosol NA May negatively regulate aerobic respiration through mitochondrial protein lysine-acetylation. May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5F1A and NDUFA9.;Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension (PubMed:17182842). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). NA Belongs to the BLOC1S1 family. Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis PE1 12 +NX_P78539 Sushi repeat-containing protein SRPX 464 51572 8.98 0 Cell surface NA May be involved in phagocytosis during disk shedding, cell adhesion to cells other than the pigment epithelium or signal transduction. NA NA NA PE1 X +NX_P78540 Arginase-2, mitochondrial 354 38578 6 0 Mitochondrion NA May play a role in the regulation of extra-urea cycle arginine metabolism and also in down-regulation of nitric oxide synthesis. Extrahepatic arginase functions to regulate L-arginine bioavailability to nitric oxid synthase (NOS). Arginine metabolism is a critical regulator of innate and adaptive immune responses. Seems to be involved in negative regulation of the survival capacity of activated CD4(+) and CD8(+) T cells (PubMed:27745970). May suppress inflammation-related signaling in asthmatic airway epithelium (PubMed:27214549). May contribute to the immune evasion of H.pylori by restricting M1 macrophage activation and polyamine metabolism (By similarity). In fetal dendritic cells may play a role in promoting immune suppression and T cell TNF-alpha production during gestation (PubMed:28614294). Regulates RPS6KB1 signaling, which promotes endothelial cell senescence and inflammation and implicates NOS3/eNOS dysfunction (PubMed:22928666). Can inhibit endothelial autophagy independently of its enzymatic activity implicating mTORC2 signaling (PubMed:25484082). Involved in vascular smooth muscle cell senescence and apoptosis independently of its enzymatic activity (PubMed:23832324). Since NOS is found in the penile corpus cavernosum smooth muscle, the clitoral corpus cavernosum and the vagina, arginase-2 plays a role in both male and female sexual arousal (PubMed:12859189). NA Belongs to the arginase family. Nitrogen metabolism; urea cycle; L-ornithine and urea from L-arginine: step 1/1.;Arginine and proline metabolism;Metabolic pathways;Amoebiasis;Urea cycle PE1 14 +NX_P78543 Protein BTG2 158 17416 8.29 0 Nucleoplasm;Cytoplasmic vesicle NA Anti-proliferative protein; the function is mediated by association with deadenylase subunits of the CCR4-NOT complex. Activates mRNA deadenylation in a CNOT6 and CNOT7-dependent manner. In vitro can inhibit deadenylase activity of CNOT7 and CNOT8. Involved in cell cycle regulation. Could be involved in the growth arrest and differentiation of the neuronal precursors (By similarity). Modulates transcription regulation mediated by ESR1. Involved in mitochondrial depolarization and neurite outgrowth. Phosphorylated at Ser-147 by MAPK1/ERK2 and MAPK3/ERK1, and at Ser-149 by MAPK14, leading to PIN1-binding and mitochondrial depolarization. Belongs to the BTG family. RNA degradation;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 1 +NX_P78545 ETS-related transcription factor Elf-3 371 41454 5.52 0 Cytoplasm;Nucleoplasm;Nucleus NA Transcriptional activator that binds and transactivates ETS sequences containing the consensus nucleotide core sequence GGA[AT]. Acts synergistically with POU2F3 to transactivate the SPRR2A promoter and with RUNX1 to transactivate the ANGPT1 promoter. Also transactivates collagenase, CCL20, CLND7, FLG, KRT8, NOS2, PTGS2, SPRR2B, TGFBR2 and TGM3 promoters. Represses KRT4 promoter activity. Involved in mediating vascular inflammation. May play an important role in epithelial cell differentiation and tumorigenesis. May be a critical downstream effector of the ERBB2 signaling pathway. May be associated with mammary gland development and involution. Plays an important role in the regulation of transcription with TATA-less promoters in preimplantation embryos, which is essential in preimplantation development (By similarity). NA Belongs to the ETS family. Pre-NOTCH Transcription and Translation PE1 1 +NX_P78549 Endonuclease III-like protein 1 312 34390 9.72 0 Mitochondrion;Nucleus Familial adenomatous polyposis 3 Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage. The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N-glycosidic bond, leaving an AP site. The AP-lyase activity cleaves the phosphodiester bond 3' to the AP site by a beta-elimination. Primarily recognizes and repairs oxidative base damage of pyrimidines. Has also 8-oxo-7,8-dihydroguanine (8-oxoG) DNA glycosylase activity. Acts preferentially on DNA damage opposite guanine residues in DNA. Is able to process lesions in nucleosomes without requiring or inducing nucleosome disruption. NA Belongs to the Nth/MutY family. Base excision repair;Displacement of DNA glycosylase by APEX1;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Defective NTHL1 substrate processing;Defective NTHL1 substrate binding PE1 16 +NX_P78552 Interleukin-13 receptor subunit alpha-1 427 48760 5.7 1 Membrane;Nucleoplasm;Cytoplasmic vesicle NA Binds with low affinity to interleukin-13 (IL13). Together with IL4RA can form a functional receptor for IL13. Also serves as an alternate accessory protein to the common cytokine receptor gamma chain for interleukin-4 (IL4) signaling, but cannot replace the function of IL2RG in allowing enhanced interleukin-2 (IL2) binding activity. NA Belongs to the type I cytokine receptor family. Type 5 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-4 and Interleukin-13 signaling PE1 X +NX_P78556 C-C motif chemokine 20 96 10762 9.21 0 Secreted NA Acts as a ligand for C-C chemokine receptor CCR6. Signals through binding and activation of CCR6 and induces a strong chemotactic response and mobilization of intracellular calcium ions (PubMed:11352563, PubMed:11035086, PubMed:20068036). The ligand-receptor pair CCL20-CCR6 is responsible for the chemotaxis of dendritic cells (DC), effector/memory T-cells and B-cells and plays an important role at skin and mucosal surfaces under homeostatic and inflammatory conditions, as well as in pathology, including cancer and various autoimmune diseases (PubMed:21376174). CCL20 acts as a chemotactic factor that attracts lymphocytes and, slightly, neutrophils, but not monocytes (PubMed:9038201, PubMed:11352563). Involved in the recruitment of both the proinflammatory IL17 producing helper T-cells (Th17) and the regulatory T-cells (Treg) to sites of inflammation. Required for optimal migration of thymic natural regulatory T cells (nTregs) and DN1 early thymocyte progenitor cells (By similarity). C-terminal processed forms have been shown to be equally chemotactically active for leukocytes (PubMed:11035086). Positively regulates sperm motility and chemotaxis via its binding to CCR6 which triggers Ca2+ mobilization in the sperm which is important for its motility (PubMed:23765988, PubMed:25122636). Inhibits proliferation of myeloid progenitors in colony formation assays (PubMed:9129037). May be involved in formation and function of the mucosal lymphoid tissues by attracting lymphocytes and dendritic cells towards epithelial cells (By similarity). Possesses antibacterial activity towards E.coli ATCC 25922 and S.aureus ATCC 29213 (PubMed:12149255). C-terminal processed forms which lack 1, 3 or 6 amino acids are produced by proteolytic cleavage after secretion from peripheral blood monocytes. Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Rheumatoid arthritis;G alpha (i) signalling events;Chemokine receptors bind chemokines;Interleukin-10 signaling PE1 2 +NX_P78559 Microtubule-associated protein 1A 2803 305485 4.85 0 Cytosol;Cytoskeleton NA Structural protein involved in the filamentous cross-bridging between microtubules and other skeletal elements. LC2 is generated from MAP1A by proteolytic processing.;Phosphorylated by CSNK1D.;MAP1A is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the MAP1 family. NA PE1 15 +NX_P78560 Death domain-containing protein CRADD 199 22745 6.32 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus Mental retardation, autosomal recessive 34, with variant lissencephaly Adapter protein that associates with PIDD1 and the caspase CASP2 to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis (PubMed:9044836, PubMed:15073321, PubMed:16652156, PubMed:17159900, PubMed:17289572). Also recruits CASP2 to the TNFR-1 signaling complex through its interaction with RIPK1 and TRADD and may play a role in the tumor necrosis factor-mediated signaling pathway (PubMed:8985253). NA NA TP53 Regulates Transcription of Caspase Activators and Caspases PE1 12 +NX_P78562 Phosphate-regulating neutral endopeptidase PHEX 749 86474 8.91 1 Cell membrane Hypophosphatemic rickets, X-linked dominant Peptidase that cleaves SIBLING (small integrin-binding ligand, N-linked glycoprotein)-derived ASARM peptides, thus regulating their biological activity (PubMed:9593714, PubMed:15664000, PubMed:18162525, PubMed:18597632). Cleaves ASARM peptides between Ser and Glu or Asp residues (PubMed:18597632). Regulates osteogenic cell differentiation and bone mineralization through the cleavage of the MEPE-derived ASARM peptide (PubMed:18597632). Promotes dentin mineralization and renal phosphate reabsorption by cleaving DMP1- and MEPE-derived ASARM peptides (PubMed:18597632, PubMed:18162525). Inhibits the cleavage of MEPE by CTSB/cathepsin B thus preventing MEPE degradation (PubMed:12220505). NA Belongs to the peptidase M13 family. NA PE1 X +NX_P78563 Double-stranded RNA-specific editase 1 741 80763 9.11 0 Nucleoplasm;Nucleus;Cytosol;Nucleolus NA Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing. This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structure-dependent activities such as microRNA production or targeting or protein-RNA interactions. Can edit both viral and cellular RNAs and can edit RNAs at multiple sites (hyper-editing) or at specific sites (site-specific editing). Its cellular RNA substrates include: bladder cancer-associated protein (BLCAP), neurotransmitter receptors for glutamate (GRIA2 and GRIK2) and serotonin (HTR2C), GABA receptor (GABRA3) and potassium voltage-gated channel (KCNA1). Site-specific RNA editing of transcripts encoding these proteins results in amino acid substitutions which consequently alter their functional activities. Edits GRIA2 at both the Q/R and R/G sites efficiently but converts the adenosine in hotspot1 much less efficiently. Can exert a proviral effect towards human immunodeficiency virus type 1 (HIV-1) and enhances its replication via both an editing-dependent and editing-independent mechanism. The former involves editing of adenosines in the 5'UTR while the latter occurs via suppression of EIF2AK2/PKR activation and function. Can inhibit cell proliferation and migration and can stimulate exocytosis. NA NA C6 deamination of adenosine;Formation of editosomes by ADAR proteins PE1 21 +NX_P79483 HLA class II histocompatibility antigen, DR beta 3 chain 266 29962 8.81 1 Endoplasmic reticulum membrane;Cell membrane;Endosome membrane;Lysosome membrane;trans-Golgi network membrane;Late endosome membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II. Belongs to the MHC class II family. Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Hematopoietic cell lineage;Intestinal immune network for IgA production;Type I diabetes mellitus;Leishmaniasis;Toxoplasmosis;Staphylococcus aureus infection;Tuberculosis;Influenza A;HTLV-I infection;Herpes simplex infection;Asthma;Autoimmune thyroid disease;Systemic lupus erythematosus;Rheumatoid arthritis;Allograft rejection;Graft-versus-host disease;Viral myocarditis;MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_P79522 Proline-rich protein 3 188 20640 9.87 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 6 +NX_P80075 C-C motif chemokine 8 99 11246 9.47 0 Secreted NA Chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils. May play a role in neoplasia and inflammatory host responses. This protein can bind heparin. The processed form MCP-2(6-76) does not show monocyte chemotactic activity, but inhibits the chemotactic effect most predominantly of CCL7, and also of CCL2 and CCL5 and CCL8. N-terminal processed form MCP-2(6-76) is produced by proteolytic cleavage after secretion from peripheral blood monocytes. Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway PE1 17 +NX_P80098 C-C motif chemokine 7 99 11200 9.72 0 Secreted NA Chemotactic factor that attracts monocytes and eosinophils, but not neutrophils. Augments monocyte anti-tumor activity. Also induces the release of gelatinase B. This protein can bind heparin. Binds to CCR1, CCR2 and CCR3. O-glycosylated. Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway PE1 17 +NX_P80108 Phosphatidylinositol-glycan-specific phospholipase D 840 92336 5.91 0 Secreted NA This protein hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans (GPI-anchor) thus releasing these proteins from the membrane. NA Belongs to the GPLD1 family. Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Post-translational modification: synthesis of GPI-anchored proteins PE1 6 +NX_P80162 C-X-C motif chemokine 6 114 11897 9.91 0 Secreted NA Chemotactic for neutrophil granulocytes. Signals through binding and activation of its receptors (CXCR1 and CXCR2). In addition to its chemotactic and angiogenic properties, it has strong antibacterial activity against Gram-positive and Gram-negative bacteria (90-fold-higher when compared to CXCL5 and CXCL7). NA Belongs to the intercrine alpha (chemokine CxC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Pertussis;Rheumatoid arthritis;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 4 +NX_P80188 Neutrophil gelatinase-associated lipocalin 198 22588 9.02 0 Endoplasmic reticulum;Cytoplasmic granule lumen;Secreted;Cytoplasmic vesicle lumen NA Iron-trafficking protein involved in multiple processes such as apoptosis, innate immunity and renal development (PubMed:12453413, PubMed:27780864, PubMed:20581821). Binds iron through association with 2,5-dihydroxybenzoic acid (2,5-DHBA), a siderophore that shares structural similarities with bacterial enterobactin, and delivers or removes iron from the cell, depending on the context. Iron-bound form (holo-24p3) is internalized following binding to the SLC22A17 (24p3R) receptor, leading to release of iron and subsequent increase of intracellular iron concentration. In contrast, association of the iron-free form (apo-24p3) with the SLC22A17 (24p3R) receptor is followed by association with an intracellular siderophore, iron chelation and iron transfer to the extracellular medium, thereby reducing intracellular iron concentration. Involved in apoptosis due to interleukin-3 (IL3) deprivation: iron-loaded form increases intracellular iron concentration without promoting apoptosis, while iron-free form decreases intracellular iron levels, inducing expression of the proapoptotic protein BCL2L11/BIM, resulting in apoptosis (By similarity). Involved in innate immunity; limits bacterial proliferation by sequestering iron bound to microbial siderophores, such as enterobactin (PubMed:27780864). Can also bind siderophores from M.tuberculosis (PubMed:15642259, PubMed:21978368). NA Belongs to the calycin superfamily. Lipocalin family. Iron uptake and transport;Neutrophil degranulation;Metal sequestration by antimicrobial proteins;Interleukin-4 and Interleukin-13 signaling PE1 9 +NX_P80192 Mitogen-activated protein kinase kinase kinase 9 1104 121895 5.63 0 Nucleoplasm;Nucleolus NA Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Once activated, acts as an upstream activator of the MKK/JNK signal transduction cascade through the phosphorylation of MAP2K4/MKK4 and MAP2K7/MKK7 which in turn activate the JNKs. The MKK/JNK signaling pathway regulates stress response via activator protein-1 (JUN) and GATA4 transcription factors. Plays also a role in mitochondrial death signaling pathway, including the release cytochrome c, leading to apoptosis. Autophosphorylation on serine and threonine residues within the activation loop plays a role in enzyme activation. Thr-312 is likely to be the main autophosphorylation site. Autophosphorylation also occurs on Thr-304 and Ser-308. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. NA PE1 14 +NX_P80217 Interferon-induced 35 kDa protein 286 31546 5.75 0 Nucleoplasm;Cytosol;Nucleus NA Not yet known. NA Belongs to the NMI family. Interferon alpha/beta signaling PE1 17 +NX_P80294 Metallothionein-1H 61 6039 8.49 0 NA NA Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. NA Belongs to the metallothionein superfamily. Type 1 family. Mineral absorption;Metallothioneins bind metals PE1 16 +NX_P80297 Metallothionein-1X 61 6068 8.38 0 Cytoplasm;Nucleus NA Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. May be involved in FAM168A anti-apoptotic signaling (PubMed:23251525). NA Belongs to the metallothionein superfamily. Type 1 family. Mineral absorption;Metallothioneins bind metals PE1 16 +NX_P80303 Nucleobindin-2 420 50223 5.03 0 Golgi apparatus;Cytoplasm;Secreted;Membrane;Endoplasmic reticulum;Nucleus envelope NA Calcium-binding protein. May have a role in calcium homeostasis.;Nesfatin-1: Anorexigenic peptide, seems to play an important role in hypothalamic pathways regulating food intake and energy homeostasis, acting in a leptin-independent manner. May also exert hypertensive roles and modulate blood pressure through directly acting on peripheral arterial resistance (By similarity). NA Belongs to the nucleobindin family. NA PE1 11 +NX_P80365 Corticosteroid 11-beta-dehydrogenase isozyme 2 405 44127 9.42 0 Endoplasmic reticulum;Cytoplasmic vesicle;Microsome Apparent mineralocorticoid excess Catalyzes the conversion of cortisol to the inactive metabolite cortisone. Modulates intracellular glucocorticoid levels, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Steroid hormone biosynthesis;Metabolism of xenobiotics by cytochrome P450;Metabolic pathways;Aldosterone-regulated sodium reabsorption;Glucocorticoid biosynthesis PE1 16 +NX_P80370 Protein delta homolog 1 383 41300 5.43 1 Membrane;Cytoplasm;Golgi apparatus NA May have a role in neuroendocrine differentiation. N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. NA Activated NOTCH1 Transmits Signal to the Nucleus PE1 14 +NX_P80404 4-aminobutyrate aminotransferase, mitochondrial 500 56439 8.17 0 Mitochondrion matrix;Mitochondrion GABA transaminase deficiency Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine. NA Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family. Alanine, aspartate and glutamate metabolism;Valine, leucine and isoleucine degradation;beta-Alanine metabolism;Propanoate metabolism;Butanoate metabolism;Metabolic pathways;GABAergic synapse;Degradation of GABA PE1 16 +NX_P80511 Protein S100-A12 92 10575 5.83 0 Cytoplasm;Secreted;Cell membrane;Cytoskeleton NA S100A12 is a calcium-, zinc- and copper-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. Its proinflammatory activity involves recruitment of leukocytes, promotion of cytokine and chemokine production, and regulation of leukocyte adhesion and migration. Acts as an alarmin or a danger associated molecular pattern (DAMP) molecule and stimulates innate immune cells via binding to receptor for advanced glycation endproducts (AGER). Binding to AGER activates the MAP-kinase and NF-kappa-B signaling pathways leading to production of proinflammatory cytokines and up-regulation of cell adhesion molecules ICAM1 and VCAM1. Acts as a monocyte and mast cell chemoattractant. Can stimulate mast cell degranulation and activation which generates chemokines, histamine and cytokines inducing further leukocyte recruitment to the sites of inflammation. Can inhibit the activity of matrix metalloproteinases; MMP2, MMP3 and MMP9 by chelating Zn(2+) from their active sites. Possesses filariacidal and filariastatic activity. Calcitermin possesses antifungal activity against C.albicans and is also active against E.coli and P.aeruginosa but not L.monocytogenes and S.aureus. NA Belongs to the S-100 family. Advanced glycosylation endproduct receptor signaling;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated NF-kB activation;Neutrophil degranulation PE1 1 +NX_P80723 Brain acid soluble protein 1 227 22693 4.64 0 Growth cone;Cell membrane NA NA NA Belongs to the BASP1 family. NA PE1 5 +NX_P80748 Immunoglobulin lambda variable 3-21 117 12446 5.03 0 Secreted;Cell membrane NA V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). NA NA FCERI mediated NF-kB activation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Regulation of actin dynamics for phagocytic cup formation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Cell surface interactions at the vascular wall;Regulation of Complement cascade;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;Initial triggering of complement;Classical antibody-mediated complement activation;FCGR activation;Scavenging of heme from plasma;Fc epsilon receptor (FCERI) signaling;CD22 mediated BCR regulation PE1 22 +NX_P81133 Single-minded homolog 1 766 85515 7.03 0 Nucleus speckle;Nucleus NA Transcriptional factor that may have pleiotropic effects during embryogenesis and in the adult. NA NA NA PE1 6 +NX_P81172 Hepcidin 84 9408 9.24 0 Secreted Hemochromatosis 2B Has strong antimicrobial activity against E.coli ML35P N.cinerea and weaker against S.epidermidis, S.aureus and group b streptococcus bacteria. Active against the fungus C.albicans. No activity against P.aeruginosa (PubMed:11113131, PubMed:11034317).;Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin, leading to the retention of iron in iron-exporting cells and decreased flow of iron into plasma. Controls the major flows of iron into plasma: absorption of dietary iron in the intestine, recycling of iron by macrophages, which phagocytose old erythrocytes and other cells, and mobilization of stored iron from hepatocytes (PubMed:22306005). NA Belongs to the hepcidin family. NA PE1 19 +NX_P81274 G-protein-signaling modulator 2 684 76662 5.97 0 Cytoplasm;Cell cortex;Lateral cell membrane;Spindle pole;Cytosol Chudley-McCullough syndrome Plays an important role in mitotic spindle pole organization via its interaction with NUMA1 (PubMed:11781568, PubMed:15632202, PubMed:21816348). Required for cortical dynein-dynactin complex recruitment during metaphase (PubMed:22327364). Plays a role in metaphase spindle orientation (PubMed:22327364). Plays also an important role in asymmetric cell divisions (PubMed:21816348). Has guanine nucleotide dissociation inhibitor (GDI) activity towards G(i) alpha proteins, such as GNAI1 and GNAI3, and thereby regulates their activity (By similarity). NA Belongs to the GPSM family. G alpha (i) signalling events PE1 1 +NX_P81277 Prolactin-releasing peptide 87 9639 11.66 0 Secreted NA Stimulates prolactin (PRL) release and regulates the expression of prolactin through its receptor GPR10. May stimulate lactotrophs directly to secrete PRL. NA NA Peptide ligand-binding receptors PE1 2 +NX_P81408 Protein FAM189B 668 71355 8.87 4 Membrane;Nucleoplasm NA NA NA Belongs to the FAM189 family. NA PE1 1 +NX_P81534 Beta-defensin 103 67 7697 10.15 0 Secreted;Nucleus NA Exhibits antimicrobial activity against Gram-positive bacteria S.aureus and S.pyogenes, Gram-negative bacteria P.aeruginosa and E.coli and the yeast C.albicans. Kills multiresistant S.aureus and vancomycin-resistant E.faecium. No significant hemolytic activity was observed. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE1 8 +NX_P81605 Dermcidin 110 11284 6.09 0 Secreted NA Survival-promoting peptide promotes survival of neurons and displays phosphatase activity. It may bind IgG.;DCD-1 displays antimicrobial activity thereby limiting skin infection by potential pathogens in the first few hours after bacterial colonization. Highly effective against E.coli, E.faecalis, S.aureus and C.albicans. Optimal pH and salt concentration resemble the conditions in sweat. Also exhibits proteolytic activity, cleaving on the C-terminal side of Arg and, to a lesser extent, Lys residues (PubMed:17448443). NA NA Antimicrobial peptides PE1 12 +NX_P81877 Single-stranded DNA-binding protein 2 361 37828 6.16 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 5 +NX_P82094 TATA element modulatory factor 1093 122842 4.88 0 Golgi apparatus;Cytoplasm;Nucleus;Golgi apparatus membrane NA Potential coactivator of the androgen receptor. Mediates STAT3 degradation. May play critical roles in two RAB6-dependent retrograde transport processes: one from endosomes to the Golgi and the other from the Golgi to the ER. This protein binds the HIV-1 TATA element and inhibits transcriptional activation by the TATA-binding protein (TBP). Phosphorylated by FER.;TMF1 is phosphorylated by FER NA Retrograde transport at the Trans-Golgi-Network PE1 3 +NX_P82251 b(0,+)-type amino acid transporter 1 487 53481 8.4 12 Apical cell membrane Cystinuria Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule. NA Belongs to the amino acid-polyamine-organocation (APC) superfamily. Protein digestion and absorption;Amino acid transport across the plasma membrane;Basigin interactions;Defective SLC3A1 causes cystinuria (CSNU);Defective SLC7A9 causes cystinuria (CSNU) PE1 19 +NX_P82279 Protein crumbs homolog 1 1406 154183 4.84 1 Cytoplasmic vesicle;Apical cell membrane;Secreted Leber congenital amaurosis 8;Retinitis pigmentosa 12;Pigmented paravenous chorioretinal atrophy Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion. Extensively glycosylated. Belongs to the Crumbs protein family. NA PE1 1 +NX_P82650 28S ribosomal protein S22, mitochondrial 360 41280 7.7 0 Mitochondrion Combined oxidative phosphorylation deficiency 5;Ovarian dysgenesis 7 NA NA Belongs to the mitochondrion-specific ribosomal protein mS22 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 3 +NX_P82663 28S ribosomal protein S25, mitochondrial 173 20116 8.99 0 Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mS25 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 3 +NX_P82664 28S ribosomal protein S10, mitochondrial 201 22999 7.78 0 Mitochondrion;Cytoskeleton NA NA NA Belongs to the universal ribosomal protein uS10 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 6 +NX_P82673 28S ribosomal protein S35, mitochondrial 323 36844 8.41 0 Cytosol;Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mS35 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 12 +NX_P82675 28S ribosomal protein S5, mitochondrial 430 48006 9.93 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uS5 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 2 +NX_P82909 28S ribosomal protein S36, mitochondrial 103 11466 9.99 0 Mitochondrion NA NA NA NA Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 5 +NX_P82912 28S ribosomal protein S11, mitochondrial 194 20616 10.82 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uS11 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 15 +NX_P82914 28S ribosomal protein S15, mitochondrial 257 29842 10.48 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uS15 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 1 +NX_P82921 28S ribosomal protein S21, mitochondrial 87 10689 9.96 0 Mitochondrion NA NA NA Belongs to the bacterial ribosomal protein bS21 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 1 +NX_P82930 28S ribosomal protein S34, mitochondrial 218 25650 9.98 0 Mitochondrion Combined oxidative phosphorylation deficiency 32 Required for mitochondrial translation, plays a role in maintaining the stability of the small ribosomal subunit and the 12S rRNA that are required for mitoribosome formation. NA Belongs to the mitochondrion-specific ribosomal protein mS34 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 16 +NX_P82932 28S ribosomal protein S6, mitochondrial 125 14227 9.3 0 Mitochondrion NA NA NA Belongs to the bacterial ribosomal protein bS6 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 21 +NX_P82933 28S ribosomal protein S9, mitochondrial 396 45835 9.54 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uS9 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 2 +NX_P82970 High mobility group nucleosome-binding domain-containing protein 5 282 31525 4.5 0 Nucleoplasm;Mitochondrion;Nucleus NA Preferentially binds to euchromatin and modulates cellular transcription by counteracting linker histone-mediated chromatin compaction. NA Belongs to the HMGN family. NA PE1 X +NX_P82979 SAP domain-containing ribonucleoprotein 210 23671 6.1 0 Cytosol;Nucleus speckle;Nucleus NA Binds both single-stranded and double-stranded DNA with higher affinity for the single-stranded form. Specifically binds to scaffold/matrix attachment region DNA. Also binds single-stranded RNA. Enhances RNA unwinding activity of DDX39A. May participate in important transcriptional or translational control of cell growth, metabolism and carcinogenesis. Component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. NA NA Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 12 +NX_P82980 Retinol-binding protein 5 135 15931 6.09 0 Golgi apparatus;Cytoplasmic vesicle;Cytoplasm NA Intracellular transport of retinol. NA Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. NA PE1 12 +NX_P82987 ADAMTS-like protein 3 1691 188692 8.2 0 Cytoplasmic vesicle;Extracellular matrix NA NA Glycosylated (By similarity). Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity). NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 15 +NX_P83105 Serine protease HTRA4 476 50979 8.37 0 Secreted NA Serine protease. NA Belongs to the peptidase S1C family. NA PE1 8 +NX_P83110 Serine protease HTRA3 453 48608 6.71 0 Cytoplasmic vesicle;Secreted NA Serine protease that cleaves beta-casein/CSN2 as well as several extracellular matrix (ECM) proteoglycans such as decorin/DCN, biglycan/BGN and fibronectin/FN1. Inhibits signaling mediated by TGF-beta family proteins possibly indirectly by degradation of these ECM proteoglycans (By similarity). May act as a tumor suppressor. Negatively regulates, in vitro, trophoblast invasion during placental development and may be involved in the development of the placenta in vivo. May also have a role in ovarian development, granulosa cell differentiation and luteinization (PubMed:21321049, PubMed:22229724). NA Belongs to the peptidase S1C family. NA PE1 4 +NX_P83111 Serine beta-lactamase-like protein LACTB, mitochondrial 547 60694 8.71 0 Mitochondrion NA Mitochondrial serine protease that acts as a regulator of mitochondrial lipid metabolism (PubMed:28329758). Acts by decreasing protein levels of PISD, a mitochondrial enzyme that converts phosphatidylserine (PtdSer) to phosphatidylethanolamine (PtdEtn), thereby affecting mitochondrial lipid metabolism (PubMed:28329758). It is unclear whether it acts directly by mediating proteolysis of PISD or by mediating proteolysis of another lipid metabolism protein (PubMed:28329758). Acts as a tumor suppressor that has the ability to inhibit proliferation of multiple types of breast cancer cells: probably by promoting decreased levels of PISD, thereby affecting mitochondrial lipid metabolism (PubMed:28329758). NA Belongs to the peptidase S12 family. NA PE1 15 +NX_P83369 U7 snRNA-associated Sm-like protein LSm11 360 39500 10.99 0 Nucleoplasm;Nucleus NA Component of the U7 snRNP complex that is involved in the histone 3'-end pre-mRNA processing (By similarity). Increases U7 snRNA levels but not histone 3'-end pre-mRNA processing activity, when overexpressed. Required for cell cycle progression from G1 to S phases. Binds specifically to the Sm-binding site of U7 snRNA. Not methylated. Belongs to the snRNP Sm proteins family. SLBP independent Processing of Histone Pre-mRNAs;SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 5 +NX_P83436 Conserved oligomeric Golgi complex subunit 7 770 86344 5.27 0 Golgi apparatus;Golgi apparatus membrane Congenital disorder of glycosylation 2E Required for normal Golgi function. NA Belongs to the COG7 family. Intra-Golgi traffic;COPI-mediated anterograde transport;Retrograde transport at the Trans-Golgi-Network PE1 16 +NX_P83731 60S ribosomal protein L24 157 17779 11.26 0 Endoplasmic reticulum;Cytoplasm;Cytosol NA NA NA Belongs to the eukaryotic ribosomal protein eL24 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 3 +NX_P83859 Orexigenic neuropeptide QRFP 136 14941 10.25 0 Secreted NA Stimulates feeding behavior, metabolic rate and locomotor activity and increases blood pressure. May have orexigenic activity. May promote aldosterone secretion by the adrenal gland (By similarity). NA Belongs to the RFamide neuropeptide family. G alpha (q) signalling events;Orexin and neuropeptides FF and QRFP bind to their respective receptors PE2 9 +NX_P83876 Thioredoxin-like protein 4A 142 16786 5.53 0 Nucleoplasm;Cytosol;Nucleus membrane;Nucleus Burn-McKeown syndrome Plays role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). The disulfide bond seen in structures determined by X-ray crystallography (PubMed:10610776) and NMR (PubMed:12911302) is not essential for protein folding and function (PubMed:12911302 and PubMed:17467737). Belongs to the DIM1 family. Spliceosome;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway PE1 18 +NX_P83881 60S ribosomal protein L36a 106 12441 10.59 0 Cytoplasm NA NA NA Belongs to the eukaryotic ribosomal protein eL42 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 X +NX_P83916 Chromobox protein homolog 1 185 21418 4.85 0 Nucleoplasm;Nucleus NA Component of heterochromatin. Recognizes and binds histone H3 tails methylated at 'Lys-9', leading to epigenetic repression. Interaction with lamin B receptor (LBR) can contribute to the association of the heterochromatin with the inner nuclear membrane. Not phosphorylated.;Ubiquitinated. NA NA PE1 17 +NX_P84022 Mothers against decapentaplegic homolog 3 425 48081 6.73 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol Loeys-Dietz syndrome 3;Colorectal cancer Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and migration of primary keratinocytes and by altering the TGF-mediated chemotaxis of monocytes. This effect on wound healing appears to be hormone-sensitive. Regulator of chondrogenesis and osteogenesis and inhibits early healing of bone fractures. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator. Poly-ADP-ribosylated by PARP1 and PARP2. ADP-ribosylation negatively regulates SMAD3 transcriptional responses during the course of TGF-beta signaling.;Acetylation in the nucleus by EP300 in the MH2 domain regulates positively its transcriptional activity and is enhanced by TGF-beta.;Phosphorylated on serine and threonine residues. Enhanced phosphorylation in the linker region on Thr-179, Ser-204 and Ser-208 on EGF and TGF-beta treatment. Ser-208 is the main site of MAPK-mediated phosphorylation. CDK-mediated phosphorylation occurs in a cell-cycle dependent manner and inhibits both the transcriptional activity and antiproliferative functions of SMAD3. This phosphorylation is inhibited by flavopiridol. Maximum phosphorylation at the G(1)/S junction. Also phosphorylated on serine residues in the C-terminal SXS motif by TGFBR1 and ACVR1. TGFBR1-mediated phosphorylation at these C-terminal sites is required for interaction with SMAD4, nuclear location and transactivational activity, and appears to be a prerequisite for the TGF-beta mediated phosphorylation in the linker region. Dephosphorylated in the C-terminal SXS motif by PPM1A. This dephosphorylation disrupts the interaction with SMAD4, promotes nuclear export and terminates TGF-beta-mediated signaling. Phosphorylation at Ser-418 by CSNK1G2/CK1 promotes ligand-dependent ubiquitination and subsequent proteasome degradation, thus inhibiting SMAD3-mediated TGF-beta responses. Phosphorylated by PDPK1.;Ubiquitinated. Monoubiquitinated, leading to prevent DNA-binding (PubMed:21947082). Deubiquitination by USP15 alleviates inhibition and promotes activation of TGF-beta target genes (PubMed:21947082). Ubiquitinated by RNF111, leading to its degradation: only SMAD3 proteins that are 'in use' are targeted by RNF111, RNF111 playing a key role in activating SMAD3 and regulating its turnover (By similarity). Undergoes STUB1-mediated ubiquitination and degradation (PubMed:24613385).;SMAD3 is phosphorylated by ACVR1C;SMAD3 is phosphorylated by PDPK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the dwarfin/SMAD family. Cell cycle;Endocytosis;Wnt signaling pathway;TGF-beta signaling pathway;Adherens junction;Chagas disease (American trypanosomiasis);HTLV-I infection;Pathways in cancer;Colorectal cancer;Pancreatic cancer;Chronic myeloid leukemia;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Downregulation of SMAD2/3:SMAD4 transcriptional activity;Downregulation of TGF-beta receptor signaling;TGF-beta receptor signaling activates SMADs;Signaling by NODAL;Signaling by Activin;SMAD2/3 Phosphorylation Motif Mutants in Cancer;SMAD4 MH2 Domain Mutants in Cancer;SMAD2/3 MH2 Domain Mutants in Cancer;TGFBR1 KD Mutants in Cancer;Ub-specific processing proteases;RUNX3 regulates CDKN1A transcription;RUNX3 regulates BCL2L11 (BIM) transcription;Interleukin-37 signaling;NOTCH4 Intracellular Domain Regulates Transcription;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes;FOXO-mediated transcription of cell cycle genes PE1 15 +NX_P84074 Neuron-specific calcium-binding protein hippocalcin 193 22427 4.87 0 Membrane;Cytosol Dystonia 2, torsion, autosomal recessive Calcium-binding protein that may play a role in the regulation of voltage-dependent calcium channels (PubMed:28398555). May also play a role in cyclic-nucleotide-mediated signaling through the regulation of adenylate and guanylate cyclases (By similarity). Myristoylation facilitates association with membranes. Belongs to the recoverin family. NA PE1 1 +NX_P84077 ADP-ribosylation factor 1 181 20697 6.31 0 Golgi apparatus;Cell membrane;Synaptosome;trans-Golgi network membrane;Membrane;Postsynaptic density;Cytosol;Perinuclear region Periventricular nodular heterotopia 8 (Microbial infection) Functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase.;GTP-binding protein involved in protein trafficking among different compartments. Modulates vesicle budding and uncoating within the Golgi complex. Deactivation induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, suggesting a crucial role in protein trafficking. In its GTP-bound form, its triggers the association with coat proteins with the Golgi membrane. The hydrolysis of ARF1-bound GTP, which is mediated by ARFGAPs proteins, is required for dissociation of coat proteins from Golgi membranes and vesicles. The GTP-bound form interacts with PICK1 to limit PICK1-mediated inhibition of Arp2/3 complex activity; the function is linked to AMPA receptor (AMPAR) trafficking, regulation of synaptic plasicity of excitatory synapses and spine shrinkage during long-term depression (LTD). Demyristoylated by S.flexneri cysteine protease IpaJ which cleaves the peptide bond between N-myristoylated Gly-2 and Asn-3. Belongs to the small GTPase superfamily. Arf family. Vibrio cholerae infection;Legionellosis;MHC class II antigen presentation;Synthesis of PIPs at the plasma membrane;Synthesis of PIPs at the Golgi membrane;Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis;Nef Mediated CD4 Down-regulation;Intra-Golgi traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation;trans-Golgi Network Vesicle Budding PE1 1 +NX_P84085 ADP-ribosylation factor 5 180 20530 6.3 0 Membrane;Golgi apparatus;trans-Golgi network membrane;Perinuclear region NA (Microbial infection) Functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase.;GTP-binding protein involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus. NA Belongs to the small GTPase superfamily. Arf family. COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 7 +NX_P84090 Enhancer of rudimentary homolog 104 12259 5.62 0 Nucleoplasm;Cytosol;Nucleus NA May have a role in the cell cycle. NA Belongs to the E(R) family. NA PE1 14 +NX_P84095 Rho-related GTP-binding protein RhoG 191 21309 8.41 0 Cell membrane NA Required for the formation of membrane ruffles during macropinocytosis. Plays a role in cell migration and is required for the formation of cup-like structures during trans-endothelial migration of leukocytes. In case of Salmonella enterica infection, activated by SopB and ARHGEF26/SGEF, which induces cytoskeleton rearrangements and promotes bacterial entry. NA Belongs to the small GTPase superfamily. Rho family. Bacterial invasion of epithelial cells;Shigellosis;Salmonella infection;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;GPVI-mediated activation cascade;Rho GTPase cycle;RHO GTPases activate KTN1;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Neutrophil degranulation PE1 11 +NX_P84098 60S ribosomal protein L19 196 23466 11.48 0 Cytosol;Nucleolus NA NA Citrullinated by PADI4. Belongs to the eukaryotic ribosomal protein eL19 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 17 +NX_P84101 Small EDRK-rich factor 2 59 6900 10.44 0 Nucleolus;Cytoplasm;Nucleoplasm;Nucleus NA Positive regulator of amyloid protein aggregation and proteotoxicity (PubMed:20723760). Induces conformational changes in amyloid proteins, such as HTT, driving them into compact formations preceding the formation of aggregates (PubMed:20723760). NA Belongs to the SERF family. NA PE1 15 +NX_P84103 Serine/arginine-rich splicing factor 3 164 19330 11.64 0 Cytoplasm;Nucleoplasm;Nucleus speckle;Nucleus NA Splicing factor that specifically promotes exon-inclusion during alternative splicing (PubMed:26876937). Interaction with YTHDC1, a RNA-binding protein that recognizes and binds N6-methyladenosine (m6A)-containing RNAs, promotes recruitment of SRSF3 to its mRNA-binding elements adjacent to m6A sites, leading to exon-inclusion during alternative splicing (PubMed:26876937). Also functions as export adapter involved in mRNA nuclear export (PubMed:11336712, PubMed:18364396, PubMed:28984244). Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NXF1 pathway); enhances NXF1-NXT1 RNA-binding activity (PubMed:11336712, PubMed:18364396). Involved in nuclear export of m6A-containing mRNAs via interaction with YTHDC1: interaction with YTHDC1 facilitates m6A-containing mRNA-binding to both SRSF3 and NXF1, promoting mRNA nuclear export (PubMed:28984244). RNA-binding is semi-sequence specific (PubMed:17036044). Phosphorylated by CLK1, CLK2, CLK3 and CLK4. Extensively phosphorylated on serine residues in the RS domain.;SRSF3 is phosphorylated by SRPK1 (Phosphoserine:PTM-0253);SRSF3 is phosphorylated by CLK4 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SRSF3 is phosphorylated by CLK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SRSF3 is phosphorylated by SRPK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the splicing factor SR family. Spliceosome;Herpes simplex infection;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 6 +NX_P84157 Matrix-remodeling-associated protein 7 204 21466 4.24 1 Membrane;Endoplasmic reticulum NA NA NA NA NA PE1 17 +NX_P84243 Histone H3.3 136 15328 11.27 0 Nucleoplasm;Nucleus;Chromosome Glioma Variant histone H3 which replaces conventional H3 in a wide range of nucleosomes in active genes. Constitutes the predominant form of histone H3 in non-dividing cells and is incorporated into chromatin independently of DNA synthesis. Deposited at sites of nucleosomal displacement throughout transcribed genes, suggesting that it represents an epigenetic imprint of transcriptionally active chromatin. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Acetylation is generally linked to gene activation. Acetylation on Lys-10 (H3K9ac) impairs methylation at Arg-9 (H3R8me2s). Acetylation on Lys-19 (H3K18ac) and Lys-24 (H3K24ac) favors methylation at Arg-18 (H3R17me). Acetylation at Lys-123 (H3K122ac) by EP300/p300 plays a central role in chromatin structure: localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability.;Citrullination at Arg-9 (H3R8ci) and/or Arg-18 (H3R17ci) by PADI4 impairs methylation and represses transcription.;Succinylation at Lys-80 (H3K79succ) by KAT2A takes place with a maximum frequency around the transcription start sites of genes (PubMed:29211711). It gives a specific tag for epigenetic transcription activation (PubMed:29211711).;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Asymmetric dimethylation at Arg-18 (H3R17me2a) by CARM1 is linked to gene activation. Symmetric dimethylation at Arg-9 (H3R8me2s) by PRMT5 is linked to gene repression. Asymmetric dimethylation at Arg-3 (H3R2me2a) by PRMT6 is linked to gene repression and is mutually exclusive with H3 Lys-5 methylation (H3K4me2 and H3K4me3). H3R2me2a is present at the 3' of genes regardless of their transcription state and is enriched on inactive promoters, while it is absent on active promoters.;Lysine deamination at Lys-5 (H3K4all) to form allysine is mediated by LOXL2. Allysine formation by LOXL2 only takes place on H3K4me3 and results in gene repression.;Serine ADP-ribosylation constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage (PubMed:29480802). Serine ADP-ribosylation at Ser-11 (H3S10ADPr) is mutually exclusive with phosphorylation at Ser-11 (H3S10ph) and impairs acetylation at Lys-10 (H3K9ac) (PubMed:30257210).;Butyrylation of histones marks active promoters and competes with histone acetylation. It is present during late spermatogenesis.;Ubiquitinated. Monoubiquitinated by RAG1 in lymphoid cells, monoubiquitination is required for V(D)J recombination (By similarity).;Specifically enriched in modifications associated with active chromatin such as methylation at Lys-5 (H3K4me), Lys-37 and Lys-80. Methylation at Lys-5 (H3K4me) facilitates subsequent acetylation of H3 and H4. Methylation at Lys-80 (H3K79me) is associated with DNA double-strand break (DSB) responses and is a specific target for TP53BP1. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me), which are linked to gene repression, are underrepresented. Methylation at Lys-10 (H3K9me) is a specific target for HP1 proteins (CBX1, CBX3 and CBX5) and prevents subsequent phosphorylation at Ser-11 (H3S10ph) and acetylation of H3 and H4. Methylation at Lys-5 (H3K4me) and Lys-80 (H3K79me) require preliminary monoubiquitination of H2B at 'Lys-120'. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are enriched in inactive X chromosome chromatin. Monomethylation at Lys-57 (H3K56me1) by EHMT2/G9A in G1 phase promotes interaction with PCNA and is required for DNA replication.;Phosphorylated at Thr-4 (H3T3ph) by HASPIN during prophase and dephosphorylated during anaphase. Phosphorylation at Ser-11 (H3S10ph) by AURKB is crucial for chromosome condensation and cell-cycle progression during mitosis and meiosis. In addition phosphorylation at Ser-11 (H3S10ph) by RPS6KA4 and RPS6KA5 is important during interphase because it enables the transcription of genes following external stimulation, like mitogens, stress, growth factors or UV irradiation and result in the activation of genes, such as c-fos and c-jun. Phosphorylation at Ser-11 (H3S10ph), which is linked to gene activation, prevents methylation at Lys-10 (H3K9me) but facilitates acetylation of H3 and H4. Phosphorylation at Ser-11 (H3S10ph) by AURKB mediates the dissociation of HP1 proteins (CBX1, CBX3 and CBX5) from heterochromatin. Phosphorylation at Ser-11 (H3S10ph) is also an essential regulatory mechanism for neoplastic cell transformation. Phosphorylated at Ser-29 (H3S28ph) by MAP3K20 isoform 1, RPS6KA5 or AURKB during mitosis or upon ultraviolet B irradiation. Phosphorylation at Thr-7 (H3T6ph) by PRKCB is a specific tag for epigenetic transcriptional activation that prevents demethylation of Lys-5 (H3K4me) by LSD1/KDM1A. At centromeres, specifically phosphorylated at Thr-12 (H3T11ph) from prophase to early anaphase, by DAPK3 and PKN1. Phosphorylation at Thr-12 (H3T11ph) by PKN1 is a specific tag for epigenetic transcriptional activation that promotes demethylation of Lys-10 (H3K9me) by KDM4C/JMJD2C. Phosphorylation at Tyr-42 (H3Y41ph) by JAK2 promotes exclusion of CBX5 (HP1 alpha) from chromatin. Phosphorylation on Ser-32 (H3S31ph) is specific to regions bordering centromeres in metaphase chromosomes. Belongs to the histone H3 family. Systemic lupus erythematosus;Systemic lupus erythematosus;Transcriptional regulation by small RNAs;Factors involved in megakaryocyte development and platelet production;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 17 +NX_P84550 SKI family transcriptional corepressor 1 965 99831 6.11 0 Nucleus NA Acts as a transcriptional corepressor of LBX1 (By similarity). Inhibits BMP signaling. NA Belongs to the SKI family. NA PE1 15 +NX_P84996 Protein ALEX 626 67948 11.55 0 Ruffle;Cell membrane ACTH-independent macronodular adrenal hyperplasia 1;Pseudohypoparathyroidism 1B;Colorectal cancer;GNAS hyperfunction May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame. NA Belongs to the ALEX family. Calcium signaling pathway;Vascular smooth muscle contraction;Gap junction;Glutamatergic synapse;Dopaminergic synapse;Long-term depression;Taste transduction;GnRH signaling pathway;Melanogenesis;Endocrine and other factor-regulated calcium reabsorption;Vasopressin-regulated water reabsorption;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Bile secretion;Vibrio cholerae infection;Chagas disease (American trypanosomiasis);Amoebiasis;Dilated cardiomyopathy PE1 20 +NX_P85037 Forkhead box protein K1 733 75457 9.41 0 Nucleolus;Cytoplasm;Nucleoplasm;Nucleus NA Transcriptional regulator involved in different processes such as glucose metabolism, aerobic glycolysis, muscle cell differentiation and autophagy (By similarity). Recognizes and binds the forkhead DNA sequence motif (5'-GTAAACA-3') and can both act as a transcription activator or repressor, depending on the context (PubMed:17670796). Together with FOXK2, acts as a key regulator of metabolic reprogramming towards aerobic glycolysis, a process in which glucose is converted to lactate in the presence of oxygen (By similarity). Acts by promoting expression of enzymes for glycolysis (such as hexokinase-2 (HK2), phosphofructokinase, pyruvate kinase (PKLR) and lactate dehydrogenase), while suppressing further oxidation of pyruvate in the mitochondria by up-regulating pyruvate dehydrogenase kinases PDK1 and PDK4 (By similarity). Probably plays a role in gluconeogenesis during overnight fasting, when lactate from white adipose tissue and muscle is the main substrate (By similarity). Involved in mTORC1-mediated metabolic reprogramming: in response to mTORC1 signaling, translocates into the nucleus and regulates the expression of genes associated with glycolysis and downstream anabolic pathways, such as HIF1A, thereby regulating glucose metabolism (By similarity). Together with FOXK2, acts as a negative regulator of autophagy in skeletal muscle: in response to starvation, enters the nucleus, binds the promoters of autophagy genes and represses their expression, preventing proteolysis of skeletal muscle proteins (By similarity). Acts as a transcriptional regulator of the myogenic progenitor cell population in skeletal muscle (By similarity). Binds to the upstream enhancer region (CCAC box) of myoglobin (MB) gene, regulating the myogenic progenitor cell population (By similarity). Promotes muscle progenitor cell proliferation by repressing the transcriptional activity of FOXO4, thereby inhibiting myogenic differentiation (By similarity). Involved in remodeling processes of adult muscles that occur in response to physiological stimuli (By similarity). Required to correct temporal orchestration of molecular and cellular events necessary for muscle repair (By similarity). Represses myogenic differentiation by inhibiting MEFC activity (By similarity). Positively regulates Wnt/beta-catenin signaling by translocating DVL into the nucleus (PubMed:25805136). Reduces virus replication, probably by binding the interferon stimulated response element (ISRE) to promote antiviral gene expression (PubMed:25852164). Phosphorylation by GSK3 (GSK3A or GSK3B) promotes interaction with YWHAE/14-3-3-epsilon and retention in the cytoplasm. In response to mTORC1 signaling, phosphorylation by GSK3 is prevented, leading to translocation to the nucleus. NA UCH proteinases PE1 7 +NX_P85298 Rho GTPase-activating protein 8 464 53484 9.45 0 Nucleoplasm NA GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. NA NA Rho GTPase cycle PE1 22 +NX_P85299 Proline-rich protein 5 388 42753 8.31 0 NA NA Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. MTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. MTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. MTORC2 promotes the serum-induced formation of stress-fibers or F-actin. MTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDK1 which is a prerequisite for full activation. MTORC2 regulates the phosphorylation of SGK1 at 'Ser-422'. MTORC2 also modulates the phosphorylation of PRKCA on 'Ser-657'. PRR5 plays an important role in regulation of PDGFRB expression and in modulation of platelet-derived growth factor signaling. May act as a tumor suppressor in breast cancer. NA Belongs to the PROTOR family. PIP3 activates AKT signaling;VEGFR2 mediated vascular permeability;CD28 dependent PI3K/Akt signaling;Constitutive Signaling by AKT1 E17K in Cancer;Regulation of TP53 Degradation PE1 22 +NX_P86397 Hydroxyacyl-thioester dehydratase type 2, mitochondrial 168 18559 9.1 0 Mitochondrion;Nucleolus NA Mitochondrial 3-hydroxyacyl-thioester dehydratase, which may be involved in fatty acid biosynthesis. NA Belongs to the HTD2 family. Fatty acyl-CoA biosynthesis PE1 3 +NX_P86434 Putative uncharacterized protein ADORA2A-AS1 159 17238 6.18 0 NA NA NA NA NA NA PE5 22 +NX_P86452 Zinc finger BED domain-containing protein 6 979 109973 6.09 0 Nucleolus;Nucleus NA Transcriptional repressor which binds to the consensus sequence 5'-GCTCGC-3' and represses transcription of IGF2. May also regulate expression of other target genes containing this consensus binding site (By similarity). NA NA NA PE1 1 +NX_P86478 Proline-rich protein 20E 221 23262 5.85 0 NA NA NA NA Belongs to the PRR20 family. NA PE1 13 +NX_P86479 Proline-rich protein 20C 221 23262 5.85 0 NA NA NA NA Belongs to the PRR20 family. NA PE1 13 +NX_P86480 Proline-rich protein 20D 221 23262 5.85 0 NA NA NA NA Belongs to the PRR20 family. NA PE1 13 +NX_P86481 Proline-rich protein 20B 221 23262 5.85 0 NA NA NA NA Belongs to the PRR20 family. NA PE2 13 +NX_P86496 Proline-rich protein 20A 221 23262 5.85 0 NA NA NA NA Belongs to the PRR20 family. NA PE2 13 +NX_P86790 Vacuolar fusion protein CCZ1 homolog B 482 55866 6.07 0 Cytoplasmic vesicle;Lysosome membrane NA NA NA Belongs to the CCZ1 family. RAB GEFs exchange GTP for GDP on RABs PE1 7 +NX_P86791 Vacuolar fusion protein CCZ1 homolog 482 55866 6.07 0 Cytoplasmic vesicle;Lysosome membrane NA Acts in concert with MON1A, as a guanine exchange factor (GEF) for RAB7, promotes the exchange of GDP to GTP, converting it from an inactive GDP-bound form into an active GTP-bound form (PubMed:23084991). NA Belongs to the CCZ1 family. RAB GEFs exchange GTP for GDP on RABs PE1 7 +NX_P87889 Endogenous retrovirus group K member 10 Gag polyprotein 666 74139 8.95 0 Cell membrane NA The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution. Myristoylation is essential for retroviral assembly. Alteration of the glycine residue leads to a block in the budding of particles and an accumulation of Gag inside the cell (By similarity).;Specific enzymatic cleavages may yield mature proteins. Belongs to the beta type-B retroviral Gag protein family. HERV class-II K(HML-2) gag subfamily. NA PE1 5 +NX_P98066 Tumor necrosis factor-inducible gene 6 protein 277 31203 6.3 0 NA NA Possibly involved in cell-cell and cell-matrix interactions during inflammation and tumorigenesis. NA NA Neutrophil degranulation PE1 2 +NX_P98073 Enteropeptidase 1019 112935 4.89 1 Membrane;Nucleolus;Cell membrane Enterokinase deficiency Responsible for initiating activation of pancreatic proteolytic proenzymes (trypsin, chymotrypsin and carboxypeptidase A). It catalyzes the conversion of trypsinogen to trypsin which in turn activates other proenzymes including chymotrypsinogen, procarboxypeptidases, and proelastases. The chains are derived from a single precursor that is cleaved by a trypsin-like protease. Belongs to the peptidase S1 family. NA PE1 21 +NX_P98077 SHC-transforming protein 2 582 61916 6.29 0 Cytosol NA Signaling adapter that couples activated growth factor receptors to signaling pathway in neurons. Involved in the signal transduction pathways of neurotrophin-activated Trk receptors in cortical neurons (By similarity). Phosphorylated on tyrosines by the Trk receptors. NA ErbB signaling pathway;Chemokine signaling pathway;VEGF signaling pathway;Focal adhesion;Natural killer cell mediated cytotoxicity;Neurotrophin signaling pathway;Insulin signaling pathway;Bacterial invasion of epithelial cells;Glioma;Chronic myeloid leukemia;RAF/MAP kinase cascade;VEGFA-VEGFR2 Pathway;Signalling to RAS PE1 19 +NX_P98082 Disabled homolog 2 770 82448 5.34 0 Cytoplasm;Cell membrane;Nucleolus;Clathrin-coated pit;Clathrin-coated vesicle membrane;Cytoplasmic vesicle NA Adapter protein that functions as clathrin-associated sorting protein (CLASP) required for clathrin-mediated endocytosis of selected cargo proteins. Can bind and assemble clathrin, and binds simultaneously to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and cargos containing non-phosphorylated NPXY internalization motifs, such as the LDL receptor, to recruit them to clathrin-coated pits. Can function in clathrin-mediated endocytosis independently of the AP-2 complex. Involved in endocytosis of integrin beta-1; this function seems to redundant with the AP-2 complex and seems to require DAB2 binding to endocytosis accessory EH domain-containing proteins such as EPS15, EPS15L1 and ITSN1. Involved in endocytosis of cystic fibrosis transmembrane conductance regulator/CFTR. Involved in endocytosis of megalin/LRP2 lipoprotein receptor during embryonal development. Required for recycling of the TGF-beta receptor. Involved in CFTR trafficking to the late endosome. Involved in several receptor-mediated signaling pathways. Involved in TGF-beta receptor signaling and facilitates phosphorylation of the signal transducer SMAD2. Mediates TFG-beta-stimulated JNK activation. May inhibit the canoniocal Wnt/beta-catenin signaling pathway by stabilizing the beta-catenin destruction complex through a competing association with axin preventing its dephosphorylation through protein phosphatase 1 (PP1). Sequesters LRP6 towards clathrin-mediated endocytosis, leading to inhibition of Wnt/beta-catenin signaling. May activate non-canonical Wnt signaling. In cell surface growth factor/Ras signaling pathways proposed to inhibit ERK activation by interrupting the binding of GRB2 to SOS1 and to inhibit SRC by preventing its activating phosphorylation at 'Tyr-419'. Proposed to be involved in modulation of androgen receptor (AR) signaling mediated by SRC activation; seems to compete with AR for interaction with SRC. Plays a role in the CSF-1 signal transduction pathway. Plays a role in cellular differentiation. Involved in cell positioning and formation of visceral endoderm (VE) during embryogenesis and proposed to be required in the VE to respond to Nodal signaling coming from the epiblast. Required for the epithelial to mesenchymal transition, a process necessary for proper embryonic development. May be involved in myeloid cell differentiation and can induce macrophage adhesion and spreading. May act as a tumor suppressor. Phosphorylated. Phosphorylation during mitosis is leading to membrane displacement (By similarity). NA Endocytosis;Gap junction degradation;Formation of annular gap junctions;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 5 +NX_P98088 Mucin-5AC 5654 585570 6.71 0 Secreted NA Gel-forming glycoprotein of gastric and respiratoy tract epithelia that protects the mucosa from infection and chemical damage by binding to inhaled microrganisms and particles that are subsequently removed by the mucocilary system. Proteolytic cleavage in the C-terminal is initiated early in the secretory pathway and does not involve a serine protease. The extent of cleavage is increased in the acidic parts of the secretory pathway. Cleavage generates a reactive group which could link the protein to a primary amide.;C-, O- and N-glycosylated. O-glycosylated on the Thr-/Ser-rich tandem repeats. C-mannosylation in the Cys-rich subdomains may be required for proper folding of these regions and for export from the endoplasmic reticulum during biosynthesis. NA O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1) PE1 11 +NX_P98095 Fibulin-2 1184 126573 4.73 0 Extracellular matrix;Cell membrane NA Its binding to fibronectin and some other ligands is calcium dependent. May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108). O-glycosylated with core 1 or possibly core 8 glycans. It is unsure if the O-glycosylation is on Thr-347 or Ser-348. Belongs to the fibulin family. Molecules associated with elastic fibres PE1 3 +NX_P98153 Integral membrane protein DGCR2/IDD 550 60811 5.11 1 Membrane NA Putative adhesion receptor, that could be involved in cell-cell or cell-matrix interactions required for normal cell differentiation and migration. NA NA NA PE1 22 +NX_P98155 Very low-density lipoprotein receptor 873 96098 4.62 1 Centriolar satellite;Clathrin-coated pit;Membrane;Cytoplasmic vesicle;Cytoskeleton Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 Binds VLDL and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. Binding to Reelin induces tyrosine phosphorylation of Dab1 and modulation of Tau phosphorylation (By similarity). Ubiquitinated at Lys-839 by MYLIP leading to degradation. NA Reelin signalling pathway;VLDLR internalisation and degradation;VLDL clearance PE1 9 +NX_P98160 Basement membrane-specific heparan sulfate proteoglycan core protein 4391 468830 6.06 0 Nucleoplasm;Cytosol;Basement membrane;Cell membrane Dyssegmental dysplasia Silverman-Handmaker type;Schwartz-Jampel syndrome The LG3 peptide has anti-angiogenic properties that require binding of calcium ions for full activity.;Endorepellin in an anti-angiogenic and anti-tumor peptide that inhibits endothelial cell migration, collagen-induced endothelial tube morphogenesis and blood vessel growth in the chorioallantoic membrane. Blocks endothelial cell adhesion to fibronectin and type I collagen. Anti-tumor agent in neovascularization. Interaction with its ligand, integrin alpha2/beta1, is required for the anti-angiogenic properties. Evokes a reduction in phosphorylation of receptor tyrosine kinases via alpha2/beta1 integrin-mediated activation of the tyrosine phosphatase, PTPN6.;Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as an attachment substrate for cells. Plays essential roles in vascularization. Critical for normal heart development and for regulating the vascular response to injury. Also required for avascular cartilage development. Proteolytic processing produces the C-terminal angiogenic peptide, endorepellin. This peptide can be further processed to produce the LG3 peptide.;N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. Perlecan contains three heparan sulfate chains. The LG3 peptide contains at least three and up to five potential O-glycosylation sites but no N-glycosylation. NA ECM-receptor interaction;Degradation of the extracellular matrix;Retinoid metabolism and transport;HS-GAG biosynthesis;Amyloid fiber formation;A tetrasaccharide linker sequence is required for GAG synthesis;HS-GAG degradation;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;Defective EXT2 causes exostoses 2;Defective EXT1 causes exostoses 1, TRPS2 and CHDS;Integrin cell surface interactions;ECM proteoglycans;Non-integrin membrane-ECM interactions;Laminin interactions;Defective B3GALT6 causes EDSP2 and SEMDJL1 PE1 1 +NX_P98161 Polycystin-1 4303 462529 6.28 11 Golgi apparatus;Endoplasmic reticulum;Cilium;Cell membrane Polycystic kidney disease 1 with or without polycystic liver disease Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281). Both PKD1 and PKD2 are required for channel activity (PubMed:27214281). Involved in renal tubulogenesis (PubMed:12482949). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions. After synthesis, undergoes cleavage between Leu-3048 and Thr-3049 in the GPS domain. Cleavage at the GPS domain occurs through a cis-autoproteolytic mechanism involving an ester-intermediate via N-O acyl rearrangement. This process takes place in the early secretory pathway, depends on initial N-glycosylation, and requires the REJ domain. There is evidence that cleavage at GPS domain is incomplete. Uncleaved and cleaved products may have different functions in vivo. Belongs to the polycystin family. VxPx cargo-targeting to cilium PE1 16 +NX_P98164 Low-density lipoprotein receptor-related protein 2 4655 521958 4.89 1 Mitochondrion;Coated pit;Endosome lumen;Cytoplasmic vesicle;Apical cell membrane;Axon;Dendrite Donnai-Barrow syndrome Multiligand endocytic receptor (By similarity). Acts together with CUBN to mediate endocytosis of high-density lipoproteins (By similarity). Mediates receptor-mediated uptake of polybasic drugs such as aprotinin, aminoglycosides and polymyxin B (By similarity). In the kidney, mediates the tubular uptake and clearance of leptin (By similarity). Also mediates transport of leptin across the blood-brain barrier through endocytosis at the choroid plexus epithelium (By similarity). Endocytosis of leptin in neuronal cells is required for hypothalamic leptin signaling and leptin-mediated regulation of feeding and body weight (By similarity). Mediates endocytosis and subsequent lysosomal degradation of CST3 in kidney proximal tubule cells (By similarity). Mediates renal uptake of 25-hydroxyvitamin D3 in complex with the vitamin D3 transporter GC/DBP (By similarity). Mediates renal uptake of metallothionein-bound heavy metals (PubMed:15126248). Together with CUBN, mediates renal reabsorption of myoglobin (By similarity). Mediates renal uptake and subsequent lysosomal degradation of APOM (By similarity). Plays a role in kidney selenium homeostasis by mediating renal endocytosis of selenoprotein SEPP1 (By similarity). Mediates renal uptake of the antiapoptotic protein BIRC5/survivin which may be important for functional integrity of the kidney (PubMed:23825075). Mediates renal uptake of matrix metalloproteinase MMP2 in complex with metalloproteinase inhibitor TIMP1 (By similarity). Mediates endocytosis of Sonic hedgehog protein N-product (ShhN), the active product of SHH (By similarity). Also mediates ShhN transcytosis (By similarity). In the embryonic neuroepithelium, mediates endocytic uptake and degradation of BMP4, is required for correct SHH localization in the ventral neural tube and plays a role in patterning of the ventral telencephalon (By similarity). Required at the onset of neurulation to sequester SHH on the apical surface of neuroepithelial cells of the rostral diencephalon ventral midline and to control PTCH1-dependent uptake and intracellular trafficking of SHH (By similarity). During neurulation, required in neuroepithelial cells for uptake of folate bound to the folate receptor FOLR1 which is necessary for neural tube closure (By similarity). In the adult brain, negatively regulates BMP signaling in the subependymal zone which enables neurogenesis to proceed (By similarity). In astrocytes, mediates endocytosis of ALB which is required for the synthesis of the neurotrophic factor oleic acid (By similarity). Involved in neurite branching (By similarity). During optic nerve development, required for SHH-mediated migration and proliferation of oligodendrocyte precursor cells (By similarity). Mediates endocytic uptake and clearance of SHH in the retinal margin which protects retinal progenitor cells from mitogenic stimuli and keeps them quiescent (By similarity). Plays a role in reproductive organ development by mediating uptake in reproductive tissues of androgen and estrogen bound to the sex hormone binding protein SHBG (By similarity). Mediates endocytosis of angiotensin-2 (By similarity). Also mediates endocytosis of angiotensis 1-7 (By similarity). Binds to the complex composed of beta-amyloid protein 40 and CLU/APOJ and mediates its endocytosis and lysosomal degradation (By similarity). Required for embryonic heart development (By similarity). Required for normal hearing, possibly through interaction with estrogen in the inner ear (By similarity). A fraction undergoes proteolytic cleavage of the extracellular domain at the cell membrane to generate a cytoplasmic tail fragment. This is internalized into the early endosome from where it trafficks in an LDLRAP1/ARH-dependent manner to the endocytic recycling compartment (ERC). In the ERC, it is further cleaved by gamma-secretase to release a fragment which translocates to the nucleus and mediates transcriptional repression.;N-glycosylation is required for ligand binding. Belongs to the LDLR family. Hedgehog signaling pathway;Retinoid metabolism and transport;Vitamin D (calciferol) metabolism;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 2 +NX_P98168 Zinc finger X-linked protein ZXDA 799 84771 7.35 0 Nucleus NA Cooperates with CIITA to promote transcription of MHC class I and MHC class II genes. NA Belongs to the ZXD family. NA PE1 X +NX_P98169 Zinc finger X-linked protein ZXDB 803 84792 6.46 0 Nucleus NA Cooperates with CIITA to promote transcription of MHC class I and MHC class II genes. NA Belongs to the ZXD family. NA PE1 X +NX_P98170 E3 ubiquitin-protein ligase XIAP 497 56685 6.22 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus Lymphoproliferative syndrome, X-linked, 2 Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, copper homeostasis, mitogenic kinase signaling, cell proliferation, as well as cell invasion and metastasis. Acts as a direct caspase inhibitor. Directly bind to the active site pocket of CASP3 and CASP7 and obstructs substrate entry. Inactivates CASP9 by keeping it in a monomeric, inactive state. Acts as an E3 ubiquitin-protein ligase regulating NF-kappa-B signaling and the target proteins for its E3 ubiquitin-protein ligase activity include: RIPK1, CASP3, CASP7, CASP8, CASP9, MAP3K2/MEKK2, DIABLO/SMAC, AIFM1, CCS and BIRC5/survivin. Ubiquitinion of CCS leads to enhancement of its chaperone activity toward its physiologic target, SOD1, rather than proteasomal degradation. Ubiquitinion of MAP3K2/MEKK2 and AIFM1 does not lead to proteasomal degradation. Plays a role in copper homeostasis by ubiquitinationg COMMD1 and promoting its proteasomal degradation. Can also function as E3 ubiquitin-protein ligase of the NEDD8 conjugation pathway, targeting effector caspases for neddylation and inactivation. Regulates the BMP signaling pathway and the SMAD and MAP3K7/TAK1 dependent pathways leading to NF-kappa-B and JNK activation. Acts as an important regulator of innate immune signaling via regulation of Nodlike receptors (NLRs). Protects cells from spontaneous formation of the ripoptosome, a large multi-protein complex that has the capability to kill cancer cells in a caspase-dependent and caspase-independent manner. Suppresses ripoptosome formation by ubiquitinating RIPK1 and CASP8. Acts as a positive regulator of Wnt signaling and ubiquitinates TLE1, TLE2, TLE3, TLE4 and AES. Ubiquitination of TLE3 results in inhibition of its interaction with TCF7L2/TCF4 thereby allowing efficient recruitment and binding of the transcriptional coactivator beta-catenin to TCF7L2/TCF4 that is required to initiate a Wnt-specific transcriptional program. Phosphorylation by PKB/AKT protects XIAP against ubiquitination and protects the protein against proteasomal degradation.;S-Nitrosylation down-regulates its E3 ubiquitin-protein ligase activity.;Autoubiquitinated and degraded by the proteasome in apoptotic cells. Belongs to the IAP family. Ubiquitin mediated proteolysis;Apoptosis;Focal adhesion;NOD-like receptor signaling pathway;Toxoplasmosis;HTLV-I infection;Pathways in cancer;Small cell lung cancer;Deactivation of the beta-catenin transactivating complex;RIPK1-mediated regulated necrosis;Activation of caspases through apoptosome-mediated cleavage;Regulation of necroptotic cell death;SMAC (DIABLO) binds to IAPs;SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;Regulation of PTEN stability and activity;Regulation of PTEN localization;Regulation of the apoptosome activity;SMAC, XIAP-regulated apoptotic response PE1 X +NX_P98171 Rho GTPase-activating protein 4 946 105026 5.96 0 Cytoplasm;Nucleoplasm;Focal adhesion NA Inhibitory effect on stress fiber organization. May down-regulate Rho-like GTPase in hematopoietic cells. NA NA Rho GTPase cycle PE1 X +NX_P98172 Ephrin-B1 346 38007 9.1 1 Membrane raft;Nucleus;Cell membrane Craniofrontonasal syndrome Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development (PubMed:8070404, PubMed:7973638). Binding to Eph receptors residing on adjacent cells leads to contact-dependent bidirectional signaling into neighboring cells (PubMed:8070404, PubMed:7973638). Shows high affinity for the receptor tyrosine kinase EPHB1/ELK (PubMed:8070404, PubMed:7973638). Can also bind EPHB2 and EPHB3 (PubMed:8070404). Binds to, and induces collapse of, commissural axons/growth cones in vitro (By similarity). May play a role in constraining the orientation of longitudinally projecting axons (By similarity). Proteolytically processed. The ectodomain is cleaved, probably by a metalloprotease, to produce a membrane-tethered C-terminal fragment. This fragment is then further processed by the gamma-secretase complex to yield a soluble intracellular domain peptide which can translocate to the nucleus. The intracellular domain peptide is highly labile suggesting that it is targeted for degradation by the proteasome.;Inducible phosphorylation of tyrosine residues in the cytoplasmic domain. Belongs to the ephrin family. Axon guidance;EPH-Ephrin signaling;EPHB-mediated forward signaling;Ephrin signaling;EPH-ephrin mediated repulsion of cells PE1 X +NX_P98173 Protein FAM3A 230 25152 8.9 0 Endoplasmic reticulum;Nucleoplasm;Secreted;Nucleolus NA May act as a defensin against invading fungal microorganisms. NA Belongs to the FAM3 family. NA PE1 X +NX_P98174 FYVE, RhoGEF and PH domain-containing protein 1 961 106561 6.14 0 Cytoplasm;Cell membrane;Lamellipodium;Ruffle;Cytosol;Cytoskeleton Aarskog-Scott syndrome Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. NA NA Regulation of actin cytoskeleton;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 X +NX_P98175 RNA-binding protein 10 930 103533 5.69 0 Nucleus speckle;Nucleus TARP syndrome May be involved in post-transcriptional processing, most probably in mRNA splicing. Binds to RNA homopolymers, with a preference for poly(G) and poly(U) and little for poly(A) (By similarity). May bind to specific miRNA hairpins (PubMed:28431233). NA NA NA PE1 X +NX_P98177 Forkhead box protein O4 505 53684 5.13 0 Cytoplasm;Cytosol;Nucleus speckle;Nucleus NA Transcription factor involved in the regulation of the insulin signaling pathway. Binds to insulin-response elements (IREs) and can activate transcription of IGFBP1. Down-regulates expression of HIF1A and suppresses hypoxia-induced transcriptional activation of HIF1A-modulated genes. Also involved in negative regulation of the cell cycle. Involved in increased proteasome activity in embryonic stem cells (ESCs) by activating expression of PSMD11 in ESCs, leading to enhanced assembly of the 26S proteasome, followed by higher proteasome activity. Phosphorylation by PKB/AKT1 inhibits transcriptional activity and is responsible for cytoplasmic localization. May be phosphorylated at multiple sites by NLK.;Acetylation by CREBBP/CBP, which is induced by peroxidase stress, inhibits transcriptional activity. Deacetylation by SIRT1 is NAD-dependent and stimulates transcriptional activity.;Monoubiquitinated; monoubiquitination is induced by oxidative stress and reduced by deacetylase inhibitors; results in its relocalization to the nucleus and its increased transcriptional activity. Deubiquitinated by USP7; deubiquitination is induced by oxidative stress; enhances its interaction with USP7 and consequently, deubiquitination; increases its translocation to the cytoplasm and inhibits its transcriptional activity. Hydrogene-peroxide-induced ubiquitination and USP7-mediated deubiquitination have no major effect on its protein stability.;FOXO4 is phosphorylated by NLK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA AKT phosphorylates targets in the nucleus;Constitutive Signaling by AKT1 E17K in Cancer;Ub-specific processing proteases;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes;FOXO-mediated transcription of cell death genes;Regulation of localization of FOXO transcription factors;Regulation of FOXO transcriptional activity by acetylation;FOXO-mediated transcription of cell cycle genes PE1 X +NX_P98179 RNA-binding protein 3 157 17170 8.86 0 Cytoplasm;Nucleoplasm;Dendrite;Nucleus NA Cold-inducible mRNA binding protein that enhances global protein synthesis at both physiological and mild hypothermic temperatures. Reduces the relative abundance of microRNAs, when overexpressed. Enhances phosphorylation of translation initiation factors and active polysome formation (By similarity). Arg-105 is dimethylated, probably to asymmetric dimethylarginine.;Phosphorylated. NA NA PE1 X +NX_P98182 Zinc finger protein 200 395 45534 8.64 0 Mitochondrion;Nucleus NA Could have a role in spermatogenesis. NA NA Generic Transcription Pathway PE1 16 +NX_P98187 Cytochrome P450 4F8 520 59995 8.73 1 Microsome membrane;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of endogenous polyunsaturated fatty acids (PUFAs) and their oxygenated derivatives (oxylipins). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). Catalyzes the hydroxylation of carbon hydrogen bonds, with preference for omega-1 and omega-2 positions (PubMed:10791960, PubMed:16112640, PubMed:15789615). Hydroxylates (5Z,8Z,11Z,14Z)-eicosatetraenoic acid (arachidonate) predominantly at omega-2 position to form (18R)-hydroxyeicosatetraenoic acid (18R-HETE) (PubMed:10791960). Exhibits omega-1 hydroxylase activity toward prostaglandin (PG) H1, PGH2 and PGI2 (PubMed:10791960, PubMed:15789615). Catalyzes the epoxidation of double bonds of PUFAs, including docosahexaenoic and docosapentaenoic acids (PubMed:16112640). Shows little activity against PGD2, PGE1, PGE2, PGF2alpha, and leukotriene B4. NA Belongs to the cytochrome P450 family. Lipid metabolism; fatty acid metabolism.;Fatty acids;Eicosanoids;Synthesis of Leukotrienes (LT) and Eoxins (EX) PE1 19 +NX_P98194 Calcium-transporting ATPase type 2C member 1 919 100577 6.34 10 Golgi apparatus;Golgi apparatus membrane Hailey-Hailey disease This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. Ion transport by P-type ATPases PE1 3 +NX_P98196 Probable phospholipid-transporting ATPase IH 1134 129756 6.17 10 Cell membrane;Recycling endosome;Early endosome;Endoplasmic reticulum;Cytoplasmic vesicle NA Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). May be involved in the uptake of farnesyltransferase inhibitor drugs, such as lonafarnib. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. Ion transport by P-type ATPases;Neutrophil degranulation PE1 13 +NX_P98198 Phospholipid-transporting ATPase ID 1209 137440 6.57 10 Endoplasmic reticulum membrane;Cell membrane NA Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. Ion transport by P-type ATPases PE1 1 +NX_P99999 Cytochrome c 105 11749 9.59 0 Mitochondrion intermembrane space;Mitochondrion;Nucleus Thrombocytopenia 4 Plays a role in apoptosis. Suppression of the anti-apoptotic members or activation of the pro-apoptotic members of the Bcl-2 family leads to altered mitochondrial membrane permeability resulting in release of cytochrome c into the cytosol. Binding of cytochrome c to Apaf-1 triggers the activation of caspase-9, which then accelerates apoptosis by activating other caspases.;Electron carrier protein. The oxidized form of the cytochrome c heme group can accept an electron from the heme group of the cytochrome c1 subunit of cytochrome reductase. Cytochrome c then transfers this electron to the cytochrome oxidase complex, the final protein carrier in the mitochondrial electron-transport chain. Binds 1 heme group per subunit.;Phosphorylation at Tyr-49 and Tyr-98 both reduce by half the turnover in the reaction with cytochrome c oxidase, down-regulating mitochondrial respiration. Belongs to the cytochrome c family. p53 signaling pathway;Apoptosis;Alzheimer's disease;Parkinson's disease;Amyotrophic lateral sclerosis (ALS);Huntington's disease;Legionellosis;Toxoplasmosis;Tuberculosis;Influenza A;Herpes simplex infection;Pathways in cancer;Colorectal cancer;Small cell lung cancer;Viral myocarditis;Detoxification of Reactive Oxygen Species;Respiratory electron transport;Transcriptional activation of mitochondrial biogenesis;TP53 Regulates Metabolic Genes;Formation of apoptosome;Activation of caspases through apoptosome-mediated cleavage;Release of apoptotic factors from the mitochondria;SMAC (DIABLO) binds to IAPs;SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes;Regulation of the apoptosome activity PE1 7 +NX_Q00005 Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform 443 51710 6.01 0 Mitochondrion outer membrane;Cytoplasm;Mitochondrion;Membrane;Cytoskeleton Spinocerebellar ataxia 12 Regulates neuronal survival through the mitochondrial fission and fusion balance (By similarity).;The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. Within the PP2A holoenzyme complex, isoform 2 is required to promote proapoptotic activity (By similarity). NA Belongs to the phosphatase 2A regulatory subunit B family. mRNA surveillance pathway;Tight junction;Dopaminergic synapse;Chagas disease (American trypanosomiasis);Hepatitis C PE1 5 +NX_Q00013 55 kDa erythrocyte membrane protein 466 52296 6.91 0 Cytoplasm;Cell membrane;Centriolar satellite;Stereocilium;Nucleus NA Essential regulator of neutrophil polarity. Regulates neutrophil polarization by regulating AKT1 phosphorylation through a mechanism that is independent of PIK3CG activity (By similarity). Palmitoylated. Belongs to the MAGUK family. NA PE1 X +NX_Q00056 Homeobox protein Hox-A4 320 34499 9.95 0 Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to sites in the 5'-flanking sequence of its coding region with various affinities. The consensus sequences of the high and low affinity binding sites are 5'-TAATGA[CG]-3' and 5'-CTAATTTT-3'. NA Belongs to the Antp homeobox family. Deformed subfamily. Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 7 +NX_Q00059 Transcription factor A, mitochondrial 246 29097 9.74 0 Mitochondrion;Mitochondrion nucleoid Mitochondrial DNA depletion syndrome 15, hepatocerebral type Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation (PubMed:29445193). Required for accurate and efficient promoter recognition by the mitochondrial RNA polymerase. Promotes transcription initiation from the HSP1 and the light strand promoter by binding immediately upstream of transcriptional start sites. Is able to unwind DNA. Bends the mitochondrial light strand promoter DNA into a U-turn shape via its HMG boxes. Required for maintenance of normal levels of mitochondrial DNA. May play a role in organizing and compacting mitochondrial DNA. Phosphorylation by PKA within the HMG box 1 impairs DNA binding and promotes degradation by the AAA+ Lon protease. NA Huntington's disease;Transcriptional activation of mitochondrial biogenesis;Mitochondrial transcription initiation PE1 10 +NX_Q00169 Phosphatidylinositol transfer protein alpha isoform 270 31806 6.12 0 Cytoplasm NA Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes. NA Belongs to the PtdIns transfer protein family. PI transfer class I subfamily. Role of second messengers in netrin-1 signaling;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 17 +NX_Q00266 S-adenosylmethionine synthase isoform type-1 395 43648 5.86 0 NA Methionine adenosyltransferase deficiency Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the triphosphate. An intrachain disulfide bond can be formed. The protein structure shows that the relevant Cys residues are in a position that would permit formation of a disulfide bond.;S-nitrosylation of Cys-120 inactivates the enzyme. Belongs to the AdoMet synthase family. Amino-acid biosynthesis; S-adenosyl-L-methionine biosynthesis; S-adenosyl-L-methionine from L-methionine: step 1/1.;Cysteine and methionine metabolism;Metabolic pathways;Methylation;Sulfur amino acid metabolism;Defective MAT1A causes Methionine adenosyltransferase deficiency (MATD);Metabolism of ingested SeMet, Sec, MeSec into H2Se PE1 10 +NX_Q00325 Phosphate carrier protein, mitochondrial 362 40095 9.45 6 Mitochondrion inner membrane;Mitochondrion Mitochondrial phosphate carrier deficiency Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported with H(+). May play a role regulation of the mitochondrial permeability transition pore (mPTP). NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 12 +NX_Q00341 Vigilin 1268 141456 6.43 0 Cytoplasm;Cytosol;Nucleus NA Appears to play a role in cell sterol metabolism. It may function to protect cells from over-accumulation of cholesterol. NA NA HDL clearance PE1 2 +NX_Q00403 Transcription initiation factor IIB 316 34833 8.67 0 Nucleoplasm;Nucleus;Chromosome NA General transcription factor that plays a role in transcription initiation by RNA polymerase II (Pol II). Involved in the pre-initiation complex (PIC) formation and Pol II recruitment at promoter DNA (PubMed:1876184, PubMed:1946368, PubMed:1517211, PubMed:3818643, PubMed:3029109, PubMed:8413225, PubMed:8515820, PubMed:8516311, PubMed:8516312, PubMed:7601352, PubMed:9420329, PubMed:12931194, PubMed:27193682). Together with the TATA box-bound TBP forms the core initiation complex and provides a bridge between TBP and the Pol II-TFIIF complex (PubMed:8504927, PubMed:8413225, PubMed:8515820, PubMed:8516311, PubMed:8516312). Released from the PIC early following the onset of transcription during the initiation and elongation transition and reassociates with TBP during the next transcription cycle (PubMed:7601352). Associates with chromatin to core promoter-specific regions (PubMed:12931194, PubMed:24441171). Binds to two distinct DNA core promoter consensus sequence elements in a TBP-independent manner; these IIB-recognition elements (BREs) are localized immediately upstream (BREu), 5'-[GC][GC][GA]CGCC-3', and downstream (BREd), 5'-[GA]T[TGA][TG][GT][TG][TG]-3', of the TATA box element (PubMed:9420329, PubMed:16230532, PubMed:7675079, PubMed:10619841). Modulates transcription start site selection (PubMed:10318856). Exhibits also autoacetyltransferase activity that contributes to the activated transcription (PubMed:12931194). Acetylated (PubMed:24441171). Autoacetylated; autoacetylation at Lys-238 stimulates transcription activation (PubMed:12931194). Belongs to the TFIIB family. Basal transcription factors;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA polymerase II transcribes snRNA genes PE1 1 +NX_Q00444 Homeobox protein Hox-C5 222 24976 9.57 0 Nucleoplasm;Cell junction;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Antp homeobox family. NA PE1 12 +NX_Q00526 Cyclin-dependent kinase 3 305 35046 8.86 0 Cytosol NA Serine/threonine-protein kinase that plays a critical role in the control of the eukaryotic cell cycle; involved in G0-G1 and G1-S cell cycle transitions. Interacts with CCNC/cyclin-C during interphase. Phosphorylates histone H1, ATF1, RB1 and CABLES1. ATF1 phosphorylation triggers ATF1 transactivation and transcriptional activities, and promotes cell proliferation and transformation. CDK3/cyclin-C mediated RB1 phosphorylation is required for G0-G1 transition. Promotes G1-S transition probably by contributing to the activation of E2F1, E2F2 and E2F3 in a RB1-independent manner. NA Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. NA PE1 17 +NX_Q00532 Cyclin-dependent kinase-like 1 358 41803 9.04 0 Cytoplasm;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA NA NA Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. NA PE1 14 +NX_Q00534 Cyclin-dependent kinase 6 326 36938 6.02 0 Cytoplasm;Nucleoplasm;Centrosome;Ruffle;Cytosol;Nucleus Microcephaly 12, primary, autosomal recessive Serine/threonine-protein kinase involved in the control of the cell cycle and differentiation; promotes G1/S transition. Phosphorylates pRB/RB1 and NPM1. Interacts with D-type G1 cyclins during interphase at G1 to form a pRB/RB1 kinase and controls the entrance into the cell cycle. Involved in initiation and maintenance of cell cycle exit during cell differentiation; prevents cell proliferation and regulates negatively cell differentiation, but is required for the proliferation of specific cell types (e.g. Erythroid and hematopoietic cells). Essential for cell proliferation within the dentate gyrus of the hippocampus and the subventricular zone of the lateral ventricles. Required during thymocyte development. Promotes the production of newborn neurons, probably by modulating G1 length. Promotes, at least in astrocytes, changes in patterns of gene expression, changes in the actin cytoskeleton including loss of stress fibers, and enhanced motility during cell differentiation. Prevents myeloid differentiation by interfering with RUNX1 and reducing its transcription transactivation activity, but promotes proliferation of normal myeloid progenitors. Delays senescence. Promotes the proliferation of beta-cells in pancreatic islets of Langerhans. May play a role in the centrosome organization during the cell cycle phases (PubMed:23918663). Thr-177 phosphorylation and Tyr-24 dephosphorylation promotes kinase activity. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. Cell cycle;p53 signaling pathway;Measles;Pathways in cancer;Pancreatic cancer;Glioma;Melanoma;Chronic myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;Oxidative Stress Induced Senescence;Senescence-Associated Secretory Phenotype (SASP);Oncogene Induced Senescence;Cyclin D associated events in G1;Regulation of RUNX1 Expression and Activity;Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6;Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 PE1 7 +NX_Q00535 Cyclin-dependent-like kinase 5 292 33304 7.57 0 Cytoplasm;Cell membrane;Growth cone;Perikaryon;Nucleoplasm;Lamellipodium;Postsynaptic density;Nucleus Lissencephaly 7, with cerebellar hypoplasia Proline-directed serine/threonine-protein kinase essential for neuronal cell cycle arrest and differentiation and may be involved in apoptotic cell death in neuronal diseases by triggering abortive cell cycle re-entry. Interacts with D1 and D3-type G1 cyclins. Phosphorylates SRC, NOS3, VIM/vimentin, p35/CDK5R1, MEF2A, SIPA1L1, SH3GLB1, PXN, PAK1, MCAM/MUC18, SEPT5, SYN1, DNM1, AMPH, SYNJ1, CDK16, RAC1, RHOA, CDC42, TONEBP/NFAT5, MAPT/TAU, MAP1B, histone H1, p53/TP53, HDAC1, APEX1, PTK2/FAK1, huntingtin/HTT, ATM, MAP2, NEFH and NEFM. Regulates several neuronal development and physiological processes including neuronal survival, migration and differentiation, axonal and neurite growth, synaptogenesis, oligodendrocyte differentiation, synaptic plasticity and neurotransmission, by phosphorylating key proteins. Activated by interaction with CDK5R1 (p35) and CDK5R2 (p39), especially in post-mitotic neurons, and promotes CDK5R1 (p35) expression in an autostimulation loop. Phosphorylates many downstream substrates such as Rho and Ras family small GTPases (e.g. PAK1, RAC1, RHOA, CDC42) or microtubule-binding proteins (e.g. MAPT/TAU, MAP2, MAP1B), and modulates actin dynamics to regulate neurite growth and/or spine morphogenesis. Phosphorylates also exocytosis associated proteins such as MCAM/MUC18, SEPT5, SYN1, and CDK16/PCTAIRE1 as well as endocytosis associated proteins such as DNM1, AMPH and SYNJ1 at synaptic terminals. In the mature central nervous system (CNS), regulates neurotransmitter movements by phosphorylating substrates associated with neurotransmitter release and synapse plasticity; synaptic vesicle exocytosis, vesicles fusion with the presynaptic membrane, and endocytosis. Promotes cell survival by activating anti-apoptotic proteins BCL2 and STAT3, and negatively regulating of JNK3/MAPK10 activity. Phosphorylation of p53/TP53 in response to genotoxic and oxidative stresses enhances its stabilization by preventing ubiquitin ligase-mediated proteasomal degradation, and induces transactivation of p53/TP53 target genes, thus regulating apoptosis. Phosphorylation of p35/CDK5R1 enhances its stabilization by preventing calpain-mediated proteolysis producing p25/CDK5R1 and avoiding ubiquitin ligase-mediated proteasomal degradation. During aberrant cell-cycle activity and DNA damage, p25/CDK5 activity elicits cell-cycle activity and double-strand DNA breaks that precedes neuronal death by deregulating HDAC1. DNA damage triggered phosphorylation of huntingtin/HTT in nuclei of neurons protects neurons against polyglutamine expansion as well as DNA damage mediated toxicity. Phosphorylation of PXN reduces its interaction with PTK2/FAK1 in matrix-cell focal adhesions (MCFA) during oligodendrocytes (OLs) differentiation. Negative regulator of Wnt/beta-catenin signaling pathway. Activator of the GAIT (IFN-gamma-activated inhibitor of translation) pathway, which suppresses expression of a post-transcriptional regulon of proinflammatory genes in myeloid cells; phosphorylates the linker domain of glutamyl-prolyl tRNA synthetase (EPRS) in a IFN-gamma-dependent manner, the initial event in assembly of the GAIT complex. Phosphorylation of SH3GLB1 is required for autophagy induction in starved neurons. Phosphorylation of TONEBP/NFAT5 in response to osmotic stress mediates its rapid nuclear localization. MEF2 is inactivated by phosphorylation in nucleus in response to neurotoxin, thus leading to neuronal apoptosis. APEX1 AP-endodeoxyribonuclease is repressed by phosphorylation, resulting in accumulation of DNA damage and contributing to neuronal death. NOS3 phosphorylation down regulates NOS3-derived nitrite (NO) levels. SRC phosphorylation mediates its ubiquitin-dependent degradation and thus leads to cytoskeletal reorganization. May regulate endothelial cell migration and angiogenesis via the modulation of lamellipodia formation. Involved in dendritic spine morphogenesis by mediating the EFNA1-EPHA4 signaling. The complex p35/CDK5 participates in the regulation of the circadian clock by modulating the function of CLOCK protein: phosphorylates CLOCK at 'Thr-451' and 'Thr-461' and regulates the transcriptional activity of the CLOCK-ARNTL/BMAL1 heterodimer in association with altered stability and subcellular distribution. Phosphorylation on Tyr-15 by ABL1 and FYN, and on Ser-159 by casein kinase 1 promotes kinase activity. By contrast, phosphorylation at Thr-14 inhibits activity.;Phosphorylation at Ser-159 is essential for maximal catalytic activity.;CDK5 is phosphorylated by CDK7 Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. Axon guidance;Alzheimer's disease;Factors involved in megakaryocyte development and platelet production;DARPP-32 events;CRMPs in Sema3A signaling;Regulation of TP53 Activity through Phosphorylation;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models;Activated NTRK2 signals through CDK5 PE1 7 +NX_Q00536 Cyclin-dependent kinase 16 496 55716 7.23 0 Cytoplasm;Synaptosome;Cell membrane;Cytosol;Secretory vesicle;Cytoskeleton NA Protein kinase that plays a role in vesicle-mediated transport processes and exocytosis. Regulates GH1 release by brain neurons. Phosphorylates NSF, and thereby regulates NSF oligomerization. Required for normal spermatogenesis. Regulates neuron differentiation and dendrite development (By similarity). Plays a role in the regulation of insulin secretion in response to changes in blood glucose levels. Can phosphorylate CCNY at 'Ser-336' (in vitro). Phosphorylation at Ser-153 inhibits kinase activity. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. NA PE1 X +NX_Q00537 Cyclin-dependent kinase 17 523 59582 9.1 0 Nucleoplasm;Cytosol NA May play a role in terminally differentiated neurons. Has a Ser/Thr-phosphorylating activity for histone H1 (By similarity). NA Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. NA PE1 12 +NX_Q00577 Transcriptional activator protein Pur-alpha 322 34911 6.07 0 Nucleus Mental retardation, autosomal dominant 31 This is a probable transcription activator that specifically binds the purine-rich single strand of the PUR element located upstream of the MYC gene. May play a role in the initiation of DNA replication and in recombination. NA Belongs to the PUR DNA-binding protein family. NA PE1 5 +NX_Q00587 Cdc42 effector protein 1 391 40295 6.64 0 Endomembrane system;Cytoskeleton;Cell membrane NA Probably involved in the organization of the actin cytoskeleton. Induced membrane extensions in fibroblasts. NA Belongs to the BORG/CEP family. NA PE1 22 +NX_Q00597 Fanconi anemia group C protein 558 63429 5.77 0 Cytoplasm;Nucleoplasm;Nucleus Fanconi anemia complementation group C DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1. NA NA Fanconi anemia pathway;Fanconi Anemia Pathway;TP53 Regulates Transcription of DNA Repair Genes PE1 9 +NX_Q00604 Norrin 133 15044 9.17 0 Cytoplasmic vesicle;Nucleoplasm;Secreted;Nucleolus Vitreoretinopathy, exudative 2;Norrie disease Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction. NA NA NA PE1 X +NX_Q00610 Clathrin heavy chain 1 1675 191615 5.48 0 Coated pit;Cytoplasmic vesicle membrane;Endosome;Melanosome;Lysosome;Cytoplasmic vesicle;Cytosol;Spindle Mental retardation, autosomal dominant 56 Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (PubMed:15858577, PubMed:16968737, PubMed:21297582). The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:23532825). Plays a role in early autophagosome formation (PubMed:20639872). NA Belongs to the clathrin heavy chain family. Lysosome;Endocytosis;Synaptic vesicle cycle;Endocrine and other factor-regulated calcium reabsorption;Huntington's disease;Bacterial invasion of epithelial cells;MHC class II antigen presentation;EPH-ephrin mediated repulsion of cells;Golgi Associated Vesicle Biogenesis;Retrograde neurotrophin signalling;Lysosome Vesicle Biogenesis;Recycling pathway of L1;Gap junction degradation;WNT5A-dependent internalization of FZD4;Formation of annular gap junctions;WNT5A-dependent internalization of FZD2, FZD5 and ROR2;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;VLDLR internalisation and degradation;Entry of Influenza Virion into Host Cell via Endocytosis;LDL clearance PE1 17 +NX_Q00613 Heat shock factor protein 1 529 57260 5.02 0 Kinetochore;Cytoplasm;Nucleoplasm;Spindle pole;Centrosome;Cytosol;Perinuclear region;Nucleus NA (Microbial infection) Plays a role in latent human immunodeficiency virus (HIV-1) transcriptional reactivation. Binds to the HIV-1 long terminal repeat promoter (LTR) to reactivate viral transcription by recruiting cellular transcriptional elongation factors, such as CDK9, CCNT1 and EP300.;Function as a stress-inducible and DNA-binding transcription factor that plays a central role in the transcriptional activation of the heat shock response (HSR), leading to the expression of a large class of molecular chaperones heat shock proteins (HSPs) that protect cells from cellular insults' damage (PubMed:1871105, PubMed:11447121, PubMed:1986252, PubMed:7760831, PubMed:7623826, PubMed:8946918, PubMed:8940068, PubMed:9341107, PubMed:9121459, PubMed:9727490, PubMed:9499401, PubMed:9535852, PubMed:12659875, PubMed:12917326, PubMed:15016915, PubMed:25963659, PubMed:26754925). In unstressed cells, is present in a HSP90-containing multichaperone complex that maintains it in a non-DNA-binding inactivated monomeric form (PubMed:9727490, PubMed:11583998, PubMed:16278218). Upon exposure to heat and other stress stimuli, undergoes homotrimerization and activates HSP gene transcription through binding to site-specific heat shock elements (HSEs) present in the promoter regions of HSP genes (PubMed:1871105, PubMed:1986252, PubMed:8455624, PubMed:7935471, PubMed:7623826, PubMed:8940068, PubMed:9727490, PubMed:9499401, PubMed:10359787, PubMed:11583998, PubMed:12659875, PubMed:16278218, PubMed:25963659, PubMed:26754925). Activation is reversible, and during the attenuation and recovery phase period of the HSR, returns to its unactivated form (PubMed:11583998, PubMed:16278218). Binds to inverted 5'-NGAAN-3' pentamer DNA sequences (PubMed:1986252, PubMed:26727489). Binds to chromatin at heat shock gene promoters (PubMed:25963659). Plays also several other functions independently of its transcriptional activity. Involved in the repression of Ras-induced transcriptional activation of the c-fos gene in heat-stressed cells (PubMed:9341107). Positively regulates pre-mRNA 3'-end processing and polyadenylation of HSP70 mRNA upon heat-stressed cells in a symplekin (SYMPK)-dependent manner (PubMed:14707147). Plays a role in nuclear export of stress-induced HSP70 mRNA (PubMed:17897941). Plays a role in the regulation of mitotic progression (PubMed:18794143). Plays also a role as a negative regulator of non-homologous end joining (NHEJ) repair activity in a DNA damage-dependent manner (PubMed:26359349). Involved in stress-induced cancer cell proliferation in a IER5-dependent manner (PubMed:26754925). Acetylated on Lys-118; this acetylation is decreased in a IER5-dependent manner (PubMed:26754925). Acetylated on Lys-118, Lys-208 and Lys-298; these acetylations occur in a EP300-dependent manner (PubMed:24581496, PubMed:27189267). Acetylated on Lys-80; this acetylation inhibits DNA-binding activity upon heat shock (PubMed:19229036). Deacetylated on Lys-80 by SIRT1; this deacetylation increases DNA-binding activity (PubMed:19229036).;Ubiquitinated by SCF(BTRC) and degraded following stimulus-dependent phosphorylation at Ser-216 by PLK1 in mitosis (PubMed:18794143). Polyubiquitinated (PubMed:24581496). Undergoes proteasomal degradation upon heat shock and during the attenuation and recovery phase period of the heat shock response (PubMed:24581496).;Sumoylated with SUMO1 and SUMO2 upon heat shock in a ERK2-dependent manner (PubMed:12646186, PubMed:12665592). Sumoylated by SUMO1 on Lys-298; sumoylation occurs upon heat shock and promotes its localization to nuclear stress bodies and DNA-binding activity (PubMed:11514557). Phosphorylation on Ser-303 and Ser-307 is probably a prerequisite for sumoylation (PubMed:12646186, PubMed:12665592).;Phosphorylated (PubMed:9499401, PubMed:10359787, PubMed:11583998, PubMed:26159920). Phosphorylated in unstressed cells; this phosphorylation is constitutive and implicated in the repression of HSF1 transcriptional activity (PubMed:8946918, PubMed:8940068, PubMed:9121459, PubMed:16278218). Phosphorylated on Ser-121 by MAPKAPK2; this phosphorylation promotes interaction with HSP90 proteins and inhibits HSF1 homotrimerization, DNA-binding and transactivation activities (PubMed:16278218). Phosphorylation on Ser-303 by GSK3B/GSK3-beta and on Ser-307 by MAPK3 within the regulatory domain is involved in the repression of HSF1 transcriptional activity and occurs in a RAF1-dependent manner (PubMed:8946918, PubMed:8940068, PubMed:9121459, PubMed:9535852, PubMed:10747973, PubMed:12646186). Phosphorylation on Ser-303 and Ser-307 increases HSF1 nuclear export in a YWHAE- and XPO1/CRM1-dependent manner (PubMed:12917326). Phosphorylation on Ser-307 is a prerequisite for phosphorylation on Ser-303 (PubMed:8940068). According to PubMed:9535852, Ser-303 is not phosphorylated in unstressed cells. Phosphorylated on Ser-419 by PLK1; phosphorylation promotes nuclear translocation upon heat shock (PubMed:15661742). Hyperphosphorylated upon heat shock and during the attenuation and recovery phase period of the heat shock response (PubMed:11447121, PubMed:12659875, PubMed:24581496). Phosphorylated on Thr-142; this phosphorylation increases HSF1 transactivation activity upon heat shock (PubMed:12659875). Phosphorylation on Ser-230 by CAMK2A; this phosphorylation enhances HSF1 transactivation activity upon heat shock (PubMed:11447121). Phosphorylation on Ser-326 by MAPK12; this phosphorylation enhances HSF1 nuclear translocation, homotrimerization and transactivation activities upon heat shock (PubMed:15760475, PubMed:27354066). Phosphorylated on Ser-320 by PRKACA/PKA; this phosphorylation promotes nuclear localization and transcriptional activity upon heat shock (PubMed:21085490). Phosphorylated on Ser-363 by MAPK8; this phosphorylation occurs upon heat shock, induces HSF1 translocation into nuclear stress bodies and negatively regulates transactivation activity (PubMed:10747973). Neither basal nor stress-inducible phosphorylation on Ser-230, Ser-292, Ser-303, Ser-307, Ser-314, Ser-319, Ser-320, Thr-323, Ser-326, Ser-338, Ser-344, Ser-363, Thr-367, Ser-368 and Thr-369 within the regulatory domain is involved in the regulation of HSF1 subcellular localization or DNA-binding activity; however, it negatively regulates HSF1 transactivation activity (PubMed:25963659). Phosphorylated on Ser-216 by PLK1 in the early mitotic period; this phosphorylation regulates HSF1 localization to the spindle pole, the recruitment of the SCF(BTRC) ubiquitin ligase complex inducing HSF1 degradation, and hence mitotic progression (PubMed:18794143). Dephosphorylated on Ser-121, Ser-307, Ser-314, Thr-323 and Thr-367 by phosphatase PPP2CA in an IER5-dependent manner, leading to HSF1-mediated transactivation activity (PubMed:26754925).;HSF1 is phosphorylated by PRKCQ (Phosphoserine:PTM-0253) Belongs to the HSF family. Legionellosis;Regulation of HSF1-mediated heat shock response;Attenuation phase;HSF1-dependent transactivation;HSF1 activation PE1 8 +NX_Q00653 Nuclear factor NF-kappa-B p100 subunit 900 96749 5.84 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol Immunodeficiency, common variable, 10 Is a subunit of the NF-kappa-B protein complex, which stimulates the HIV enhancer in synergy with p65. In concert with RELB, regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer.;NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. In a non-canonical activation pathway, the MAP3K14-activated CHUK/IKKA homodimer phosphorylates NFKB2/p100 associated with RelB, inducing its proteolytic processing to NFKB2/p52 and the formation of NF-kappa-B RelB-p52 complexes. The NF-kappa-B heterodimeric RelB-p52 complex is a transcriptional activator. The NF-kappa-B p52-p52 homodimer is a transcriptional repressor. NFKB2 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p100 and generation of p52 by a cotranslational processing. The proteasome-mediated process ensures the production of both p52 and p100 and preserves their independent function. P52 binds to the kappa-B consensus sequence 5'-GGRNNYYCC-3', located in the enhancer region of genes involved in immune response and acute phase reactions. P52 and p100 are respectively the minor and major form; the processing of p100 being relatively poor. Constitutive processing is tightly suppressed by its C-terminal processing inhibitory domain, named PID, which contains the death domain.;While translation occurs, the particular unfolded structure after the GRR repeat promotes the generation of p52 making it an acceptable substrate for the proteasome. This process is known as cotranslational processing. The processed form is active and the unprocessed form acts as an inhibitor (I kappa B-like), being able to form cytosolic complexes with NF-kappa B, trapping it in the cytoplasm. Complete folding of the region downstream of the GRR repeat precludes processing.;Subsequent to MAP3K14-dependent serine phosphorylation, p100 polyubiquitination occurs then triggering its proteasome-dependent processing. NA MAPK signaling pathway;Osteoclast differentiation;Legionellosis;HTLV-I infection;Pathways in cancer;Dectin-1 mediated noncanonical NF-kB signaling;NIK-->noncanonical NF-kB signaling;PKMTs methylate histone lysines;The NLRP3 inflammasome;RIP-mediated NFkB activation via ZBP1;DEx/H-box helicases activate type I IFN and inflammatory cytokines production;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated NF-kB activation;IkBA variant leads to EDA-ID;Interleukin-1 processing;SUMOylation of immune response proteins PE1 10 +NX_Q00688 Peptidyl-prolyl cis-trans isomerase FKBP3 224 25177 9.29 0 Cytosol;Nucleus NA FK506- and rapamycin-binding proteins (FKBPs) constitute a family of receptors for the two immunosuppressants which inhibit T-cell proliferation by arresting two distinct cytoplasmic signal transmission pathways. PPIases accelerate the folding of proteins. NA Belongs to the FKBP-type PPIase family. NA PE1 14 +NX_Q00722 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 1185 134024 5.96 0 Cytosol NA The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. NA NA Inositol phosphate metabolism;Metabolic pathways;Calcium signaling pathway;Chemokine signaling pathway;Phosphatidylinositol signaling system;Vascular smooth muscle contraction;Wnt signaling pathway;Gap junction;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;Dopaminergic synapse;Long-term depression;Taste transduction;GnRH signaling pathway;Melanogenesis;Endocrine and other factor-regulated calcium reabsorption;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Carbohydrate digestion and absorption;Alzheimer's disease;Huntington's disease;Chagas disease (American trypanosomiasis);African trypanosomiasis;Amoebiasis;G alpha (q) signalling events;Ca2+ pathway;G beta:gamma signalling through PLC beta;Presynaptic function of Kainate receptors;Synthesis of IP3 and IP4 in the cytosol;PLC beta mediated events;Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion;Acetylcholine regulates insulin secretion PE1 15 +NX_Q00765 Receptor expression-enhancing protein 5 189 21493 8.25 2 Membrane;Endoplasmic reticulum NA May promote functional cell surface expression of olfactory receptors. NA Belongs to the DP1 family. Olfactory Signaling Pathway PE1 5 +NX_Q00796 Sorbitol dehydrogenase 357 38325 8.23 0 Mitochondrion membrane;Cytosol;Flagellum NA Polyol dehydrogenase that catalyzes the reversible NAD(+)-dependent oxidation of various sugar alcohols. Is mostly active with D-sorbitol (D-glucitol), L-threitol, xylitol and ribitol as substrates, leading to the C2-oxidized products D-fructose, L-erythrulose, D-xylulose, and D-ribulose, respectively (PubMed:3365415). Is a key enzyme in the polyol pathway that interconverts glucose and fructose via sorbitol, which constitutes an important alternate route for glucose metabolism. The polyol pathway is believed to be involved in the etiology of diabetic complications, such as diabetic neuropathy and retinopathy, induced by hyperglycemia (PubMed:12962626, PubMed:29966615, PubMed:25105142). May play a role in sperm motility by using sorbitol as an alternative energy source for sperm motility (PubMed:16278369). May have a more general function in the metabolism of secondary alcohols since it also catalyzes the stereospecific oxidation of (2R,3R)-2,3-butanediol. To a lesser extent, can also oxidize L-arabinitol, galactitol and D-mannitol and glycerol in vitro. Oxidizes neither ethanol nor other primary alcohols. Cannot use NADP(+) as the electron acceptor (PubMed:3365415). NA Belongs to the zinc-containing alcohol dehydrogenase family. Fructose and mannose metabolism;Metabolic pathways;Fructose biosynthesis;Formation of xylulose-5-phosphate PE1 15 +NX_Q00839 Heterogeneous nuclear ribonucleoprotein U 825 90584 5.76 0 Cytoplasm;Nucleus speckle;Nucleus matrix;Chromosome;Cell surface;Midbody;Spindle pole;Nucleoplasm;Centrosome;Nucleus;Spindle;Cytoplasmic granule;Kinetochore Epileptic encephalopathy, early infantile, 54 DNA- and RNA-binding protein involved in several cellular processes such as nuclear chromatin organization, telomere-length regulation, transcription, mRNA alternative splicing and stability, Xist-mediated transcriptional silencing and mitotic cell progression (PubMed:10490622, PubMed:18082603, PubMed:19029303, PubMed:22325991, PubMed:25986610, PubMed:28622508). Plays a role in the regulation of interphase large-scale gene-rich chromatin organization through chromatin-associated RNAs (caRNAs) in a transcription-dependent manner, and thereby maintains genomic stability (PubMed:1324173, PubMed:8174554, PubMed:28622508). Required for the localization of the long non-coding Xist RNA on the inactive chromosome X (Xi) and the subsequent initiation and maintenance of X-linked transcriptional gene silencing during X-inactivation (By similarity). Plays a role as a RNA polymerase II (Pol II) holoenzyme transcription regulator (PubMed:8174554, PubMed:9353307, PubMed:10490622, PubMed:15711563, PubMed:19617346, PubMed:23811339). Promotes transcription initiation by direct association with the core-TFIIH basal transcription factor complex for the assembly of a functional pre-initiation complex with Pol II in a actin-dependent manner (PubMed:10490622, PubMed:15711563). Blocks Pol II transcription elongation activity by inhibiting the C-terminal domain (CTD) phosphorylation of Pol II and dissociates from Pol II pre-initiation complex prior to productive transcription elongation (PubMed:10490622). Positively regulates CBX5-induced transcriptional gene silencing and retention of CBX5 in the nucleus (PubMed:19617346). Negatively regulates glucocorticoid-mediated transcriptional activation (PubMed:9353307). Key regulator of transcription initiation and elongation in embryonic stem cells upon leukemia inhibitory factor (LIF) signaling (By similarity). Involved in the long non-coding RNA H19-mediated Pol II transcriptional repression (PubMed:23811339). Participates in the circadian regulation of the core clock component ARNTL/BMAL1 transcription (By similarity). Plays a role in the regulation of telomere length (PubMed:18082603). Plays a role as a global pre-mRNA alternative splicing modulator by regulating U2 small nuclear ribonucleoprotein (snRNP) biogenesis (PubMed:22325991). Plays a role in mRNA stability (PubMed:17174306, PubMed:17289661, PubMed:19029303). Component of the CRD-mediated complex that promotes MYC mRNA stabilization (PubMed:19029303). Enhances the expression of specific genes, such as tumor necrosis factor TNFA, by regulating mRNA stability, possibly through binding to the 3'-untranslated region (UTR) (PubMed:17174306). Plays a role in mitotic cell cycle regulation (PubMed:21242313, PubMed:25986610). Involved in the formation of stable mitotic spindle microtubules (MTs) attachment to kinetochore, spindle organization and chromosome congression (PubMed:21242313). Phosphorylation at Ser-59 by PLK1 is required for chromosome alignement and segregation and progression through mitosis (PubMed:25986610). Contributes also to the targeting of AURKA to mitotic spindle MTs (PubMed:21242313). Binds to double- and single-stranded DNA and RNA, poly(A), poly(C) and poly(G) oligoribonucleotides (PubMed:1628625, PubMed:8068679, PubMed:8174554, PubMed:9204873, PubMed:9405365). Binds to chromatin-associated RNAs (caRNAs) (PubMed:28622508). Associates with chromatin to scaffold/matrix attachment region (S/MAR) elements in a chromatin-associated RNAs (caRNAs)-dependent manner (PubMed:7509195, PubMed:1324173, PubMed:9204873, PubMed:9405365, PubMed:10671544, PubMed:11003645, PubMed:11909954, PubMed:28622508). Binds to the Xist RNA (PubMed:26244333). Binds the long non-coding H19 RNA (PubMed:23811339). Binds to SMN1/2 pre-mRNAs at G/U-rich regions (PubMed:22325991). Binds to small nuclear RNAs (snRNAs) (PubMed:22325991). Binds to the 3'-UTR of TNFA mRNA (PubMed:17174306). Binds (via RNA-binding RGG-box region) to the long non-coding Xist RNA; this binding is direct and bridges the Xist RNA and the inactive chromosome X (Xi) (By similarity). Also negatively regulates embryonic stem cell differentiation upon LIF signaling (By similarity). Required for embryonic development (By similarity). Binds to brown fat long non-coding RNA 1 (Blnc1); facilitates the recruitment of Blnc1 by ZBTB7B required to drive brown and beige fat development and thermogenesis (By similarity).;(Microbial infection) Negatively regulates immunodeficiency virus type 1 (HIV-1) replication by preventing the accumulation of viral mRNA transcripts in the cytoplasm. Citrullinated by PADI4.;Arg-739 is dimethylated, probably to asymmetric dimethylarginine (Ref.8). Arg-733 is dimethylated, probably to asymmetric dimethylarginine (By similarity).;Cleaved at Asp-100 by CASP3 during T-cell apoptosis, resulting in a loss of DNA- and chromatin-binding activities (PubMed:9405365, PubMed:10671544).;Extensively phosphorylated (PubMed:7993898). Phosphorylated on Ser-59 by PLK1 and dephosphorylated by protein phosphatase 2A (PP2A) in mitosis (PubMed:25986610). NA Spliceosome;mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA PE1 1 +NX_Q00872 Myosin-binding protein C, slow-type 1141 128294 5.78 0 Cytoplasm Arthrogryposis, distal, 1B;Lethal congenital contracture syndrome 4 Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role. NA Belongs to the immunoglobulin superfamily. MyBP family. Striated Muscle Contraction PE1 12 +NX_Q00887 Pregnancy-specific beta-1-glycoprotein 9 426 48272 8.27 0 Secreted NA NA NA Belongs to the immunoglobulin superfamily. CEA family. Cell surface interactions at the vascular wall PE1 19 +NX_Q00888 Pregnancy-specific beta-1-glycoprotein 4 419 47113 9.34 0 Secreted NA NA NA Belongs to the immunoglobulin superfamily. CEA family. Cell surface interactions at the vascular wall PE1 19 +NX_Q00889 Pregnancy-specific beta-1-glycoprotein 6 435 48814 8.86 0 Secreted NA NA NA Belongs to the immunoglobulin superfamily. CEA family. Cell surface interactions at the vascular wall PE1 19 +NX_Q008S8 Epithelial cell-transforming sequence 2 oncogene-like 904 104880 8.65 0 NA NA May act as a guanine nucleotide exchange factor (GEF). NA NA NA PE1 6 +NX_Q00973 Beta-1,4 N-acetylgalactosaminyltransferase 1 533 58882 8.93 1 Golgi apparatus membrane Spastic paraplegia 26, autosomal recessive Involved in the biosynthesis of gangliosides GM2, GD2 and GA2. NA Belongs to the glycosyltransferase 2 family. Sphingolipid metabolism.;Glycosphingolipid biosynthesis - ganglio series;Metabolic pathways;Glycosphingolipid metabolism PE1 12 +NX_Q00975 Voltage-dependent N-type calcium channel subunit alpha-1B 2339 262496 8.78 24 Membrane NA Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1B gives rise to N-type calcium currents. N-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by omega-conotoxin-GVIA (AC P01522) (AC P01522) (By similarity). They are however insensitive to dihydropyridines (DHP). Calcium channels containing alpha-1B subunit may play a role in directed migration of immature neurons. Phosphorylated in vitro by CaM-kinase II, PKA, PKC and CGPK. Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1B subfamily. MAPK signaling pathway;Calcium signaling pathway;Synaptic vesicle cycle;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Taste transduction;Type II diabetes mellitus;Presynaptic depolarization and calcium channel opening PE1 9 +NX_Q00978 Interferon regulatory factor 9 393 43696 5.58 0 Cytoplasm;Cytosol;Nucleus NA Transcription factor that mediates signaling by type I IFNs (IFN-alpha and IFN-beta). Following type I IFN binding to cell surface receptors, Jak kinases (TYK2 and JAK1) are activated, leading to tyrosine phosphorylation of STAT1 and STAT2. IRF9/ISGF3G associates with the phosphorylated STAT1:STAT2 dimer to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of interferon stimulated genes, which drive the cell in an antiviral state. NA Belongs to the IRF family. Osteoclast differentiation;Jak-STAT signaling pathway;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Interferon gamma signaling;Interferon alpha/beta signaling PE1 14 +NX_Q00987 E3 ubiquitin-protein ligase Mdm2 491 55233 4.6 0 Nucleoplasm;Cytoplasm;Nucleolus NA E3 ubiquitin-protein ligase that mediates ubiquitination of p53/TP53, leading to its degradation by the proteasome. Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Also acts as a ubiquitin ligase E3 toward itself and ARRB1. Permits the nuclear export of p53/TP53. Promotes proteasome-dependent ubiquitin-independent degradation of retinoblastoma RB1 protein. Inhibits DAXX-mediated apoptosis by inducing its ubiquitination and degradation. Component of the TRIM28/KAP1-MDM2-p53/TP53 complex involved in stabilizing p53/TP53. Also component of the TRIM28/KAP1-ERBB4-MDM2 complex which links growth factor and DNA damage response pathways. Mediates ubiquitination and subsequent proteasome degradation of DYRK2 in nucleus. Ubiquitinates IGF1R and SNAI1 and promotes them to proteasomal degradation (PubMed:12821780, PubMed:15053880, PubMed:15195100, PubMed:15632057, PubMed:16337594, PubMed:17290220, PubMed:19098711, PubMed:19219073, PubMed:19837670, PubMed:19965871, PubMed:20173098, PubMed:20385133, PubMed:20858735, PubMed:22128911). Ubiquitinates DCX, leading to DCX degradation and reduction of the dendritic spine density of olfactory bulb granule cells (By similarity). Ubiquitinates DLG4, leading to proteasomal degradation of DLG4 which is required for AMPA receptor endocytosis (By similarity). Phosphorylation on Ser-166 by SGK1 activates ubiquitination of p53/TP53. Phosphorylated at multiple sites near the RING domain by ATM upon DNA damage; this prevents oligomerization and E3 ligase processivity and impedes constitutive p53/TP53 degradation.;Autoubiquitination leads to proteasomal degradation; resulting in p53/TP53 activation it may be regulated by SFN. Also ubiquitinated by TRIM13. Deubiquitinated by USP2 leads to its accumulation and increases deubiquitination and degradation of p53/TP53. Deubiquitinated by USP7 leading to its stabilization.;MDM2 is phosphorylated by HIPK2 Belongs to the MDM2/MDM4 family. Cell cycle;p53 signaling pathway;Ubiquitin mediated proteolysis;Endocytosis;Pathways in cancer;Glioma;Prostate cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Oxidative Stress Induced Senescence;Oncogene Induced Senescence;Trafficking of AMPA receptors;Constitutive Signaling by AKT1 E17K in Cancer;AKT phosphorylates targets in the cytosol;Stabilization of p53;Regulation of TP53 Activity through Phosphorylation;Regulation of TP53 Degradation;Regulation of TP53 Activity through Methylation;SUMOylation of transcription factors;Ub-specific processing proteases;Regulation of RUNX3 expression and activity;SUMOylation of ubiquitinylation proteins PE1 12 +NX_Q00994 Protein BEX3 111 12958 5.31 0 Cytoplasm;Cytosol;Nucleus NA May be a signaling adapter molecule involved in p75NTR-mediated apoptosis induced by NGF. Plays a role in zinc-triggered neuronal death (By similarity). May play an important role in the pathogenesis of neurogenetic diseases. Ubiquitinated. Degraded by the proteasome (By similarity). Belongs to the BEX family. Neurotrophin signaling pathway;NADE modulates death signalling PE1 X +NX_Q00G26 Perilipin-5 463 50791 5.08 0 Cytoplasmic vesicle;Cytoplasm;Mitochondrion;Lipid droplet NA Lipid droplet-associated protein that maintains the balance between lipogenesis and lipolysis and also regulates fatty acid oxidation in oxidative tissues. Recruits mitochondria to the surface of lipid droplets and is involved in lipid droplet homeostasis by regulating both the storage of fatty acids in the form of triglycerides and the release of fatty acids for mitochondrial fatty acid oxidation. In lipid droplet triacylglycerol hydrolysis, plays a role as a scaffolding protein for three major key lipolytic players: ABHD5, PNPLA2 and LIPE. Reduces the triacylglycerol hydrolase activity of PNPLA2 by recruiting and sequestering PNPLA2 to lipid droplets. Phosphorylation by PKA enables lipolysis probably by promoting release of ABHD5 from the perilipin scaffold and by facilitating interaction of ABHD5 with PNPLA2. Also increases lipolysis through interaction with LIPE and upon PKA-mediated phosphorylation of LIPE (By similarity). Phosphorylated by PKA. Phosphorylated on serine in skeletal muscle at rest or upon lipolytic stimulation (By similarity). Belongs to the perilipin family. NA PE1 19 +NX_Q00LT1 Photoreceptor disk component PRCD 54 6007 7.96 0 Endoplasmic reticulum;Golgi apparatus;Photoreceptor outer segment;Membrane Retinitis pigmentosa 36 Involved in vision. Phosphorylated.;Palmitoylated at Cys-2 (PubMed:27613864). Palmitoylation is essential for protein stability and trafficking to the photoreceptor outer segment, but does not appear to be essential for membrane localization (PubMed:27613864). Probably palmitoylated by ZDHHC3 (PubMed:27613864). Belongs to the PRCD family. NA PE1 17 +NX_Q01064 Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B 536 61380 5.33 0 Cytoplasm NA Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Has a preference for cGMP as a substrate. NA Belongs to the cyclic nucleotide phosphodiesterase family. PDE1 subfamily. Purine metabolism;Calcium signaling pathway;G alpha (s) signalling events;cGMP effects;Cam-PDE 1 activation PE1 12 +NX_Q01081 Splicing factor U2AF 35 kDa subunit 240 27872 9.09 0 Nucleoplasm;Nucleus speckle;Nucleus Myelodysplastic syndrome Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron. NA Belongs to the splicing factor SR family. Spliceosome;Shigellosis;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 21 +NX_Q01082 Spectrin beta chain, non-erythrocytic 1 2364 274609 5.39 0 Golgi apparatus;Cytoplasm;Cell membrane;M line;Cytoskeleton NA Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. SPTBN1 is phosphorylated by MAPK3 Belongs to the spectrin family. RAF/MAP kinase cascade;Interaction between L1 and Ankyrins;Nephrin family interactions;NCAM signaling for neurite out-growth;COPI-mediated anterograde transport PE1 2 +NX_Q01085 Nucleolysin TIAR 375 41591 7.62 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytoplasmic granule;Nucleus NA RNA-binding protein. Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis. Phosphorylated by MAPK14 following DNA damage, releasing TIAR from GADD45A mRNA.;TIAL1 is phosphorylated by MAPK14 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA FGFR2 alternative splicing PE1 10 +NX_Q01094 Transcription factor E2F1 437 46920 4.79 0 Nucleoplasm;Centrosome;Nucleus NA Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F1 binds preferentially RB1 in a cell-cycle dependent manner. It can mediate both cell proliferation and TP53/p53-dependent apoptosis. Blocks adipocyte differentiation by binding to specific promoters repressing CEBPA binding to its target gene promoters (PubMed:20176812). Positively regulates transcription of RRP1B (PubMed:20040599). Phosphorylated by CDK2 and cyclin A-CDK2 in the S-phase. Phosphorylation at Ser-364 by CHEK2 stabilizes E2F1 upon DNA damage and regulates its effect on transcription and apoptosis.;Acetylation stimulates DNA-binding. Enhanced under stress conditions such as DNA damage and inhibited by retinoblastoma protein RB1. Regulated by KAP1/TRIM28 which recruits HDAC1 to E2F1 resulting in deacetylation. Acetylated by P/CAF/KAT2B. Belongs to the E2F/DP family. Cell cycle;HTLV-I infection;Pathways in cancer;Pancreatic cancer;Glioma;Prostate cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;Oxidative Stress Induced Senescence;CDC6 association with the ORC:origin complex;G1/S-Specific Transcription;Pre-NOTCH Transcription and Translation;Cyclin E associated events during G1/S transition;Oncogene Induced Senescence;Cyclin A:Cdk2-associated events at S phase entry;Inhibition of replication initiation of damaged DNA by RB1/E2F1;Cyclin D associated events in G1;G2 Phase;Activation of PUMA and translocation to mitochondria;Activation of NOXA and translocation to mitochondria;TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest;Transcription of E2F targets under negative control by DREAM complex;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1;Transcriptional Regulation by E2F6;Transcriptional regulation of granulopoiesis PE1 20 +NX_Q01101 Insulinoma-associated protein 1 510 52923 9.19 0 Nucleus NA Sequence-specific DNA-binding transcriptional regulator that plays a key role in neurogenesis and neuroendocrine cell differentiation during embryonic and/or fetal development. Binds to the consensus sequence 5'-[TG][TC][TC][TT][GA]GGG[CG]A-3' in target promoters. Acts as a transcriptional repressor of NEUROD1 and INS expression via its interaction with cyclin CCND1 in a cell cycle-independent manner. Negatively regulates skeletal muscle-specific gene expression in endocrine cells of the pituitary by inhibiting the Notch signaling pathway. Represses target gene transcription by recruiting chromatin-modifying factors, such as HDAC1, HDAC2, HDAC3, KDM1A and RCOR1 histone deacetylases. Binds to its own promoter, suggesting autoregulation as a self-control feedback mechanism. Competes with histone H3 for the same binding site on the histone demethylase complex formed by KDM1A and RCOR1, and thereby inhibits demethylation of histone H3 at 'Lys-4' (PubMed:23721412). Promotes the generation and expansion of neuronal basal progenitor cells in the developing neocortex. Involved in the differentiation of endocrine cells of the developing anterior pituitary gland, of the pancreas and intestine, and of sympatho-adrenal cells in the peripheral nervous system. Promotes cell cycle signaling arrest and inhibition of cellular proliferation. NA Belongs to the INSM1 family. Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells PE1 20 +NX_Q01105 Protein SET 290 33489 4.23 0 Endoplasmic reticulum;Nucleoplasm;Nucleus;Cytosol Mental retardation, autosomal dominant 58 Inhibit EP300/CREBBP and PCAF-mediated acetylation of histones (HAT) and nucleosomes, most probably by masking the accessibility of lysines of histones to the acetylases. The predominant target for inhibition is histone H4. HAT inhibition leads to silencing of HAT-dependent transcription and prevents active demethylation of DNA. Both isoforms stimulate DNA replication of the adenovirus genome complexed with viral core proteins; however, isoform 2 specific activity is higher.;Multitasking protein, involved in apoptosis, transcription, nucleosome assembly and histone chaperoning.;Are potent inhibitors of protein phosphatase 2A.;Anti-apoptotic activity is mediated by inhibition of the GZMA-activated DNase, NME1. In the course of cytotoxic T-lymphocyte (CTL)-induced apoptosis, GZMA cleaves SET, disrupting its binding to NME1 and releasing NME1 inhibition. Is phosphorylated on Ser-15 and Ser-24.;Cleaved after Lys-176 by GZMA. The cleavage inhibits its nucleosome assembly activity and disrupts the inhibition on NME1.;Is acetylated on Lys-11.;Some glutamate residues are glycylated by TTLL8. This modification occurs exclusively on glutamate residues and results in a glycine chain on the gamma-carboxyl group (By similarity).;N-terminus of isoform 1 is methylated by METTL11A/NTM1. Mainly trimethylated (By similarity). Belongs to the nucleosome assembly protein (NAP) family. Condensation of Prophase Chromosomes;HuR (ELAVL1) binds and stabilizes mRNA PE1 9 +NX_Q01113 Interleukin-9 receptor 521 57147 5.27 1 Secreted;Cell membrane NA This is a receptor for interleukin-9. NA Belongs to the type I cytokine receptor family. Type 4 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Hematopoietic cell lineage;Interleukin-9 signaling PE1 X +NX_Q01118 Sodium channel protein type 7 subunit alpha 1682 193493 8.26 24 Cell membrane NA Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Lacks the cysteine which covalently binds the conotoxin GVIIJ. This cysteine (position 656) is speculated in other sodium channel subunits alpha to be implied in covalent binding with the sodium channel subunit beta-2 or beta-4. Belongs to the sodium channel (TC 1.A.1.10) family. SCN7A subfamily. Interaction between L1 and Ankyrins;Phase 0 - rapid depolarisation PE1 2 +NX_Q01130 Serine/arginine-rich splicing factor 2 221 25476 11.86 0 Nucleoplasm;Nucleus speckle;Nucleus NA Necessary for the splicing of pre-mRNA. It is required for formation of the earliest ATP-dependent splicing complex and interacts with spliceosomal components bound to both the 5'- and 3'-splice sites during spliceosome assembly. It also is required for ATP-dependent interactions of both U1 and U2 snRNPs with pre-mRNA. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Binds to purine-rich RNA sequences, either 5'-AGSAGAGTA-3' (S=C or G) or 5'-GTTCGAGTA-3'. Can bind to beta-globin mRNA and commit it to the splicing pathway. The phosphorylated form (by SRPK2) is required for cellular apoptosis in response to cisplatin treatment. Acetylation on Lys-52 by KAT5/TIP60 promotes its proteasomal degradation. This effect is counterbalanced by HDAC6, which positively controls SRSF2 protein level by deacetylating it and preventing its proteasomal degradation.;Extensively phosphorylated on serine residues in the RS domain. Phosphorylated by SRPK2 and this causes its redistribution from the nuclear speckle to nucleoplasm and controls cell fate decision in response to cisplatin treatment. KAT5/TIP60 inhibits its phosphorylation by preventing SRPK2 nuclear translocation.;SRSF2 is phosphorylated by SRPK1 (Phosphoserine:PTM-0253);SRSF2 is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SRSF2 is phosphorylated by SRPK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the splicing factor SR family. Spliceosome;Herpes simplex infection;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 17 +NX_Q01151 CD83 antigen 205 23042 8.45 1 Membrane NA May play a significant role in antigen presentation or the cellular interactions that follow lymphocyte activation. NA NA NA PE1 6 +NX_Q01167 Forkhead box protein K2 660 69062 9.56 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA Transcriptional regulator involved in different processes such as glucose metabolism, aerobic glycolysis and autophagy (By similarity). Recognizes and binds the forkhead DNA sequence motif (5'-GTAAACA-3') and can both act as a transcription activator or repressor, depending on the context (PubMed:22083952, PubMed:25451922). Together with FOXK1, acts as a key regulator of metabolic reprogramming towards aerobic glycolysis, a process in which glucose is converted to lactate in the presence of oxygen (By similarity). Acts by promoting expression of enzymes for glycolysis (such as hexokinase-2 (HK2), phosphofructokinase, pyruvate kinase (PKLR) and lactate dehydrogenase), while suppressing further oxidation of pyruvate in the mitochondria by up-regulating pyruvate dehydrogenase kinases PDK1 and PDK4 (By similarity). Probably plays a role in gluconeogenesis during overnight fasting, when lactate from white adipose tissue and muscle is the main substrate (By similarity). Together with FOXK1, acts as a negative regulator of autophagy in skeletal muscle: in response to starvation, enters the nucleus, binds the promoters of autophagy genes and represses their expression, preventing proteolysis of skeletal muscle proteins (By similarity). In addition to the 5'-GTAAACA-3' DNA motif, also binds the 5'-TGANTCA-3' palindromic DNA motif, and co-associates with JUN/AP-1 to activate transcription (PubMed:22083952). Also able to bind to a minimal DNA heteroduplex containing a G/T-mismatch with 5'-TRT[G/T]NB-3' sequence (PubMed:20097901). Binds to NFAT-like motifs (purine-rich) in the IL2 promoter (PubMed:1339390). Positively regulates WNT/beta-catenin signaling by translocating DVL proteins into the nucleus (PubMed:25805136). Also binds to HIV-1 long terminal repeat. May be involved in both positive and negative regulation of important viral and cellular promoter elements (PubMed:1909027). Hyperphosphorylated during mitosis by CDK1 and, to a lower extent, CDK2 (PubMed:20810654). Phosphorylation at Ser-373 and Ser-428 affects stability by promoting degradation (PubMed:20810654). NA UCH proteinases PE1 17 +NX_Q01196 Runt-related transcription factor 1 453 48737 9.4 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus Familial platelet disorder with associated myeloid malignancy Shows higher binding activities for target genes and binds TCR-beta-E2 and RAG-1 target site with threefold higher affinity than other isoforms. It is less effective in the context of neutrophil terminal differentiation.;Interferes with the transactivation activity of RUNX1.;Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters (Probable). Essential for the development of normal hematopoiesis (PubMed:17431401). Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the BLK promoter (PubMed:10207087, PubMed:14970218). Inhibits KAT6B-dependent transcriptional activation (By similarity). Involved in lineage commitment of immature T cell precursors. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. CBF complexes binding to the transcriptional silencer is essential for recruitment of nuclear protein complexes that catalyze epigenetic modifications to establish epigenetic ZBTB7B silencing (By similarity). Controls the anergy and suppressive function of regulatory T-cells (Treg) by associating with FOXP3. Activates the expression of IL2 and IFNG and down-regulates the expression of TNFRSF18, IL2RA and CTLA4, in conventional T-cells (PubMed:17377532). Positively regulates the expression of RORC in T-helper 17 cells (By similarity). Phosphorylated in its C-terminus upon IL-6 treatment. Phosphorylation enhances interaction with KAT6A.;Methylated.;Phosphorylated in Ser-249 Thr-273 and Ser-276 by HIPK2 when associated with CBFB and DNA. This phosphorylation promotes subsequent EP300 phosphorylation.;RUNX1 is phosphorylated by HIPK1 NA Pathways in cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Pre-NOTCH Transcription and Translation;Organic cation transport;RUNX3 regulates p14-ARF;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Regulation of RUNX1 Expression and Activity;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known;RUNX1 regulates estrogen receptor mediated transcription;RUNX1 regulates transcription of genes involved in WNT signaling;RUNX1 regulates transcription of genes involved in differentiation of myeloid cells;RUNX1 regulates transcription of genes involved in differentiation of keratinocytes;RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs);RUNX1 regulates transcription of genes involved in BCR signaling;RUNX2 regulates genes involved in differentiation of myeloid cells;RUNX1 regulates expression of components of tight junctions;RUNX1 regulates transcription of genes involved in interleukin signaling;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 21 +NX_Q01201 Transcription factor RelB 579 62134 5.84 0 Nucleoplasm;Cytosol;Centrosome;Nucleus Immunodeficiency 53 NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. NF-kappa-B heterodimeric RelB-p50 and RelB-p52 complexes are transcriptional activators. RELB neither associates with DNA nor with RELA/p65 or REL. Stimulates promoter activity in the presence of NFKB2/p49. As a member of the NUPR1/RELB/IER3 survival pathway, may provide pancreatic ductal adenocarcinoma with remarkable resistance to cell stress, such as starvation or gemcitabine treatment. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer in a CRY1/CRY2 independent manner. Increased repression of the heterodimer is seen in the presence of NFKB2/p52. Is required for both T and B lymphocyte maturation and function (PubMed:26385063). Phosphorylation at 'Thr-103' and 'Ser-573' is followed by proteasomal degradation. NA MAPK signaling pathway;Osteoclast differentiation;HTLV-I infection;Dectin-1 mediated noncanonical NF-kB signaling;NIK-->noncanonical NF-kB signaling;CD209 (DC-SIGN) signaling PE1 19 +NX_Q01344 Interleukin-5 receptor subunit alpha 420 47685 5.36 1 Membrane NA This is the receptor for interleukin-5. The alpha chain binds to IL5. NA Belongs to the type I cytokine receptor family. Type 5 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Hematopoietic cell lineage;RAF/MAP kinase cascade;Interleukin receptor SHC signaling;Interleukin-3, Interleukin-5 and GM-CSF signaling PE1 3 +NX_Q01362 High affinity immunoglobulin epsilon receptor subunit beta 244 26534 5.05 4 Membrane NA High affinity receptor that binds to the Fc region of immunoglobulins epsilon. Aggregation of FCER1 by multivalent antigens is required for the full mast cell response, including the release of preformed mediators (such as histamine) by degranulation and de novo production of lipid mediators and cytokines. Also mediates the secretion of important lymphokines. Binding of allergen to receptor-bound IgE leads to cell activation and the release of mediators responsible for the manifestations of allergy. Phosphorylated on tyrosine residues by LYN. Belongs to the MS4A family. Fc epsilon RI signaling pathway;Asthma;FCERI mediated NF-kB activation;Role of LAT2/NTAL/LAB on calcium mobilization;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Fc epsilon receptor (FCERI) signaling PE1 11 +NX_Q01415 N-acetylgalactosamine kinase 458 50378 6.19 0 Nucleoplasm;Cytosol NA Acts on GalNAc. Also acts as a galactokinase when galactose is present at high concentrations. May be involved in a salvage pathway for the reutilization of free GalNAc derived from the degradation of complex carbohydrates. NA Belongs to the GHMP kinase family. GalK subfamily. Galactose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways PE1 15 +NX_Q01432 AMP deaminase 3 767 88812 6.51 0 Nucleus membrane Adenosine monophosphate deaminase deficiency erythrocyte type AMP deaminase plays a critical role in energy metabolism. NA Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family. Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1.;Purine metabolism;Metabolic pathways;Purine salvage;Neutrophil degranulation PE1 11 +NX_Q01433 AMP deaminase 2 879 100688 6.46 0 Cytosol Spastic paraplegia 63, autosomal recessive;Pontocerebellar hypoplasia 9 AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle. Methylated at Gln-6 by N6AMT1. Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family. Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1.;Purine metabolism;Metabolic pathways;Purine salvage PE1 1 +NX_Q01449 Myosin regulatory light chain 2, atrial isoform 175 19448 4.83 0 NA NA NA NA NA Focal adhesion;Tight junction;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Smooth Muscle Contraction PE1 7 +NX_Q01453 Peripheral myelin protein 22 160 17891 7.75 4 Cell membrane Dejerine-Sottas syndrome;Charcot-Marie-Tooth disease 1E;Hereditary neuropathy with liability to pressure palsies;Inflammatory demyelinating polyneuropathy;Charcot-Marie-Tooth disease 1A Might be involved in growth regulation, and in myelinization in the peripheral nervous system. NA Belongs to the PMP-22/EMP/MP20 family. NA PE1 17 +NX_Q01459 Di-N-acetylchitobiase 385 43760 6.19 0 Cytosol;Lysosome NA Involved in the degradation of asparagine-linked glycoproteins. Hydrolyze of N-acetyl-beta-D-glucosamine (1-4)N-acetylglucosamine chitobiose core from the reducing end of the bond, it requires prior cleavage by glycosylasparaginase. NA Belongs to the glycosyl hydrolase 18 family. NA PE1 1 +NX_Q01469 Fatty acid-binding protein 5 135 15164 6.6 0 Cytoplasm;Cell membrane;Secreted;Postsynaptic density;Synapse;Cytosol;Nucleus NA Intracellular carrier for long-chain fatty acids and related active lipids, such as the endocannabinoid, that regulates the metabolism and actions of the ligands they bind. In addition to the cytosolic transport, selectively delivers specific fatty acids from the cytosol to the nucleus, wherein they activate nuclear receptors (PubMed:22170058). Delivers retinoic acid to the nuclear receptor peroxisome proliferator-activated receptor delta; which promotes proliferation and survival. May also serve as a synaptic carrier of endocannabinoid at central synapses and thus controls retrograde endocannabinoid signaling. Modulates inflammation by regulating PTGES induction via NF-kappa-B activation, and prostaglandin E2 (PGE2) biosynthesis during inflammation (By similarity). May be involved in keratinocyte differentiation (PubMed:8092987). NA Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. PPAR signaling pathway;Triglyceride catabolism;Signaling by Retinoic Acid;Neutrophil degranulation PE1 8 +NX_Q01484 Ankyrin-2 3957 433715 5.03 0 Mitochondrion;T-tubule;Cell membrane;Postsynaptic cell membrane;Recycling endosome;Early endosome;Membrane;Lysosome;Apical cell membrane;Z line;M line;Cytoskeleton Long QT syndrome 4 Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions. In cardiomyocytes, required for coordinate assembly of Na/Ca exchanger, SLC8A1/NCX1, Na/K ATPases ATP1A1 and ATP1A2 and inositol 1,4,5-trisphosphate (InsP3) receptors at sarcoplasmic reticulum/sarcolemma sites. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate (PubMed:12571597). In the inner segment of rod photoreceptors, required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) (By similarity). Plays a role in endocytosis and intracellular protein transport. Associates with phosphatidylinositol 3-phosphate (PI3P)-positive organelles and binds dynactin to promote long-range motility of cells. Recruits RABGAP1L to (PI3P)-positive early endosomes, where RABGAP1L inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous directional cell migration (By similarity). Phosphorylated at multiple sites by different protein kinases and each phosphorylation event regulates the protein's structure and function. NA Interaction between L1 and Ankyrins;COPI-mediated anterograde transport PE1 4 +NX_Q01518 Adenylyl cyclase-associated protein 1 475 51901 8.24 0 Cytosol;Cell membrane NA Directly regulates filament dynamics and has been implicated in a number of complex developmental and morphological processes, including mRNA localization and the establishment of cell polarity. NA Belongs to the CAP family. Platelet degranulation;Role of ABL in ROBO-SLIT signaling;Neutrophil degranulation PE1 1 +NX_Q01523 Defensin-5 94 10071 8.3 0 Cytoplasmic vesicle;Secretory vesicle;Secreted;Midbody NA Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane. All DEFA5 peptides exert antimicrobial activities, but their potency is affected by peptide processing. Glycosylated. Belongs to the alpha-defensin family. Alpha-defensins;Defensins PE1 8 +NX_Q01524 Defensin-6 100 10975 5.21 0 Secreted NA Has very low antimicrobial activity against Gram-negative and Gram-positive bacteria. May protect cells against infection with HIV-1. NA Belongs to the alpha-defensin family. Alpha-defensins;Defensins PE1 8 +NX_Q01534 Testis-specific Y-encoded protein 1 308 35012 5.29 0 Cytoplasm;Nucleus NA May be involved in sperm differentiation and proliferation. Phosphorylated. Belongs to the nucleosome assembly protein (NAP) family. NA PE1 Y +NX_Q01538 Myelin transcription factor 1 1121 122329 4.81 0 Nucleoplasm;Cytosol;Nucleus NA Binds to the promoter region of genes encoding proteolipid proteins of the central nervous system. May play a role in the development of neurons and oligodendroglia in the CNS. May regulate a critical transition point in oligodendrocyte lineage development by modulating oligodendrocyte progenitor proliferation relative to terminal differentiation and up-regulation of myelin gene transcription. NA Belongs to the MYT1 family. NA PE1 20 +NX_Q01543 Friend leukemia integration 1 transcription factor 452 50982 6.57 0 Nucleoplasm;Nucleus Bleeding disorder, platelet-type 21;Ewing sarcoma Sequence-specific transcriptional activator (PubMed:24100448, PubMed:26316623, PubMed:28255014). Recognizes the DNA sequence 5'-C[CA]GGAAGT-3'. NA Belongs to the ETS family. Transcriptional regulation of granulopoiesis PE1 11 +NX_Q01546 Keratin, type II cytoskeletal 2 oral 638 65841 8.38 0 NA NA Probably contributes to terminal cornification. NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_Q01581 Hydroxymethylglutaryl-CoA synthase, cytoplasmic 520 57294 5.22 0 Nucleoplasm;Cytosol;Cytoplasm;Cell membrane NA This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase. NA Belongs to the thiolase-like superfamily. HMG-CoA synthase family. Metabolic intermediate biosynthesis; (R)-mevalonate biosynthesis; (R)-mevalonate from acetyl-CoA: step 2/3.;Synthesis and degradation of ketone bodies;Valine, leucine and isoleucine degradation;Butanoate metabolism;Terpenoid backbone biosynthesis;Metabolic pathways;PPARA activates gene expression;Cholesterol biosynthesis;Activation of gene expression by SREBF (SREBP) PE1 5 +NX_Q01628 Interferon-induced transmembrane protein 3 133 14632 6.49 1 Endosome;Lysosome membrane;Late endosome membrane;Cell membrane NA IFN-induced antiviral protein which disrupts intracellular cholesterol homeostasis. Inhibits the entry of viruses to the host cell cytoplasm by preventing viral fusion with cholesterol depleted endosomes. May inactivate new enveloped viruses which buds out of the infected cell, by letting them go out with a cholesterol depleted membrane. Active against multiple viruses, including influenza A virus, SARS coronavirus (SARS-CoV), Marburg virus (MARV) and Ebola virus (EBOV), Dengue virus (DNV), West Nile virus (WNV), human immunodeficiency virus type 1 (HIV-1) and vesicular stomatitis virus (VSV). Can inhibit: influenza virus hemagglutinin protein-mediated viral entry, MARV and EBOV GP1,2-mediated viral entry, SARS-CoV S protein-mediated viral entry and VSV G protein-mediated viral entry. Plays a critical role in the structural stability and function of vacuolar ATPase (v-ATPase). Establishes physical contact with the v-ATPase of endosomes which is critical for proper clathrin localization and is also required for the function of the v-ATPase to lower the pH in phagocytic endosomes thus establishing an antiviral state. Not glycosylated.;Palmitoylation on membrane-proximal cysteines controls clustering in membrane compartments and antiviral activity against influenza virus.;Polyubiquitinated with both 'Lys-48' and 'Lys-63' linkages. Ubiquitination negatively regulates antiviral activity. Lys-24 is the most prevalent ubiquitination site. Belongs to the CD225/Dispanin family. Interferon alpha/beta signaling PE1 11 +NX_Q01629 Interferon-induced transmembrane protein 2 132 14632 6.89 1 Cell membrane NA IFN-induced antiviral protein which inhibits the entry of viruses to the host cell cytoplasm, permitting endocytosis, but preventing subsequent viral fusion and release of viral contents into the cytosol. Active against multiple viruses, including influenza A virus, SARS coronavirus (SARS-CoV), Marburg virus (MARV), Ebola virus (EBOV), Dengue virus (DNV), West Nile virus (WNV), human immunodeficiency virus type 1 (HIV-1) and vesicular stomatitis virus (VSV). Can inhibit: influenza virus hemagglutinin protein-mediated viral entry, MARV and EBOV GP1,2-mediated viral entry, SARS-CoV S protein-mediated viral entry and VSV G protein-mediated viral entry. Induces cell cycle arrest and mediates apoptosis by caspase activation and in p53-independent manner. Palmitoylation on membrane-proximal cysteines controls clustering in membrane compartments and antiviral activity against influenza virus. Belongs to the CD225/Dispanin family. Interferon alpha/beta signaling PE1 11 +NX_Q01638 Interleukin-1 receptor-like 1 556 63358 8.63 1 Cytosol;Focal adhesion;Secreted;Cell membrane NA Receptor for interleukin-33 (IL-33); signaling requires association of the coreceptor IL1RAP. Its stimulation recruits MYD88, IRAK1, IRAK4, and TRAF6, followed by phosphorylation of MAPK3/ERK1 and/or MAPK1/ERK2, MAPK14, and MAPK8. Possibly involved in helper T-cell function.;Inhibits IL-33 signaling. NA Belongs to the interleukin-1 receptor family. PIP3 activates AKT signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Interleukin-33 signaling PE1 2 +NX_Q01650 Large neutral amino acids transporter small subunit 1 507 55010 7.9 12 Cell membrane;Apical cell membrane;Lysosome membrane;Cytoplasmic vesicle;Cytosol NA The heterodimer with SLC3A2 functions as sodium-independent, high-affinity transporter that mediates uptake of large neutral amino acids such as phenylalanine, tyrosine, L-DOPA, leucine, histidine, methionine and tryptophan (PubMed:9751058, PubMed:10049700, PubMed:11557028, PubMed:10391915, PubMed:10574970, PubMed:11311135, PubMed:11564694, PubMed:12117417, PubMed:12225859, PubMed:25998567, PubMed:30867591). Functions as an amino acid exchanger (PubMed:11557028, PubMed:12117417, PubMed:12225859, PubMed:30867591). May play a role in the transport of L-DOPA across the blood-brain barrier (By similarity). May act as the major transporter of tyrosine in fibroblasts (Probable). May mediate blood-to-retina L-leucine transport across the inner blood-retinal barrier (By similarity). Can mediate the transport of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane (PubMed:11564694, PubMed:12225859). When associated with LAPTM4B, the heterodimer formed by SLC3A2 and SLC7A5 is recruited to lysosomes to promote leucine uptake into these organelles, and thereby mediates mTORC1 activation (PubMed:25998567). Involved in the uptake of toxic methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes (PubMed:12117417). Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the membrane (PubMed:15769744). NA Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. Tryptophan catabolism;Amino acid transport across the plasma membrane;Basigin interactions PE1 16 +NX_Q01658 Protein Dr1 176 19444 4.69 0 Nucleoplasm;Nucleus NA The association of the DR1/DRAP1 heterodimer with TBP results in a functional repression of both activated and basal transcription of class II genes. This interaction precludes the formation of a transcription-competent complex by inhibiting the association of TFIIA and/or TFIIB with TBP. Can bind to DNA on its own. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. Phosphorylation regulates its interaction with TBP. Not phosphorylated when bound to DRAP1. Belongs to the NC2 beta/DR1 family. HATs acetylate histones PE1 1 +NX_Q01664 Transcription factor AP-4 338 38726 5.63 0 Nucleoplasm;Mitochondrion;Nucleus NA Transcription factor that activates both viral and cellular genes by binding to the symmetrical DNA sequence 5'-CAGCTG-3'. NA NA NA PE1 16 +NX_Q01668 Voltage-dependent L-type calcium channel subunit alpha-1D 2161 245141 6.32 24 Membrane;Nucleus membrane Primary aldosteronism, seizures, and neurologic abnormalities;Sinoatrial node dysfunction and deafness Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines. NA Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1D subfamily. MAPK signaling pathway;Calcium signaling pathway;Cardiac muscle contraction;Vascular smooth muscle contraction;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;GnRH signaling pathway;Type II diabetes mellitus;Carbohydrate digestion and absorption;Alzheimer's disease;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;NCAM1 interactions;Adrenaline,noradrenaline inhibits insulin secretion;Regulation of insulin secretion;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 3 +NX_Q01718 Adrenocorticotropic hormone receptor 297 33927 9.02 7 Cell membrane Glucocorticoid deficiency 1 Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP). NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Peptide ligand-binding receptors;G alpha (s) signalling events;Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) PE1 18 +NX_Q01726 Melanocyte-stimulating hormone receptor 317 34706 8.78 7 Cell membrane Melanoma, cutaneous malignant 5 Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Melanogenesis;Peptide ligand-binding receptors;G alpha (s) signalling events PE1 16 +NX_Q01740 Dimethylaniline monooxygenase [N-oxide-forming] 1 532 60311 6.8 1 Microsome membrane;Endoplasmic reticulum membrane NA This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides. Form I catalyzes the N-oxygenation of secondary and tertiary amines. NA Belongs to the FMO family. Drug metabolism - cytochrome P450;FMO oxidises nucleophiles PE1 1 +NX_Q01780 Exosome component 10 885 100831 8.68 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Putative catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. EXOSC10 has 3'-5' exonuclease activity (By similarity). EXOSC10 is required for nucleolar localization of C1D and probably mediates the association of MTREX, C1D and MPP6 wth the RNA exosome involved in the maturation of 5.8S rRNA. NA NA RNA degradation;Major pathway of rRNA processing in the nucleolus and cytosol PE1 1 +NX_Q01804 OTU domain-containing protein 4 1114 124045 6.25 0 Cytoplasm;Cytosol;Nucleus NA Deubiquitinase which hydrolyzes the isopeptide bond between the ubiquitin C-terminus and the lysine epsilon-amino group of the target protein (PubMed:23827681, PubMed:25944111, PubMed:29395066). May negatively regulate inflammatory and pathogen recognition signaling in innate immune response. Upon phosphorylation at Ser-202 and Ser-204 residues, via IL-1 receptor and Toll-like receptor signaling pathway, specifically deubiquitinates 'Lys-63'-polyubiquitinated MYD88 adapter protein triggering down-regulation of NF-kappa-B-dependent transcription of inflammatory mediators (PubMed:29395066). Independently of the catalytic activity, acts as a scaffold for alternative deubiquitinases to assemble specific deubiquitinase-substrate complexes. Associates with USP7 and USP9X deubiquitinases to stabilize alkylation repair enzyme ALKBH3, thereby promoting the repair of alkylated DNA lesions (PubMed:25944111). Phosphorylated on Ser-202 and Ser-204 likely by CSNK2A1-CSNK2A2 serine/threonine-protein kinase complex. Activates 'Lys-63'-specific deubiquitinase activity. NA NA PE1 4 +NX_Q01813 ATP-dependent 6-phosphofructokinase, platelet type 784 85596 7.5 0 Cytoplasm;Cytosol NA Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis. GlcNAcylation decreases enzyme activity. Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade 'E' sub-subfamily. Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 3/4.;Glycolysis / Gluconeogenesis;Pentose phosphate pathway;Fructose and mannose metabolism;Galactose metabolism;Metabolic pathways;Glycolysis PE1 10 +NX_Q01814 Plasma membrane calcium-transporting ATPase 2 1243 136876 5.66 10 Synapse;Cell membrane NA This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily. Calcium signaling pathway;Salivary secretion;Pancreatic secretion;Ion transport by P-type ATPases;Reduction of cytosolic Ca++ levels;Ion homeostasis PE1 3 +NX_Q01826 DNA-binding protein SATB1 763 85957 6.1 0 Nucleus;Nucleoplasm;Nucleus matrix;PML body NA Crucial silencing factor contributing to the initiation of X inactivation mediated by Xist RNA that occurs during embryogenesis and in lymphoma (By similarity). Binds to DNA at special AT-rich sequences, the consensus SATB1-binding sequence (CSBS), at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcriptional repressor controlling nuclear and viral gene expression in a phosphorylated and acetylated status-dependent manner, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a docking site for several chromatin remodeling enzymes (e.g. PML at the MHC-I locus) and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Modulates genes that are essential in the maturation of the immune T-cell CD8SP from thymocytes. Required for the switching of fetal globin species, and beta- and gamma-globin genes regulation during erythroid differentiation. Plays a role in chromatin organization and nuclear architecture during apoptosis. Interacts with the unique region (UR) of cytomegalovirus (CMV). Alu-like motifs and SATB1-binding sites provide a unique chromatin context which seems preferentially targeted by the HIV-1 integration machinery. Moreover, HIV-1 Tat may overcome SATB1-mediated repression of IL2 and IL2RA (interleukin) in T-cells by binding to the same domain than HDAC1. Delineates specific epigenetic modifications at target gene loci, directly up-regulating metastasis-associated genes while down-regulating tumor-suppressor genes. Reprograms chromatin organization and the transcription profiles of breast tumors to promote growth and metastasis. Promotes neuronal differentiation of neural stem/progenitor cells in the adult subventricular zone, possibly by positively regulating the expression of NEUROD1 (By similarity). Sumoylated. Sumoylation promotes cleavage by caspases.;Phosphorylated by PKC. Acetylated by PCAF. Phosphorylated form interacts with HDAC1, but unphosphorylated form interacts with PCAF. DNA binding properties are activated by phosphorylation and inactivated by acetylation. In opposition, gene expression is down-regulated by phosphorylation but up-regulated by acetylation.;Cleaved at Asp-254 by caspase-3 and caspase-6 during T-cell apoptosis in thymus and during B-cell stimulation. The cleaved forms cannot dimerize and lose transcription regulation function because of impaired DNA and chromatin association. Belongs to the CUT homeobox family. Apoptotic cleavage of cellular proteins;SUMOylation of chromatin organization proteins PE1 3 +NX_Q01831 DNA repair protein complementing XP-C cells 940 105953 9.03 0 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane Xeroderma pigmentosum complementation group C Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-binding factor component of the XPC complex. Has only a low DNA repair activity by itself which is stimulated by RAD23B and RAD23A. Has a preference to bind DNA containing a short single-stranded segment but not to damaged oligonucleotides. This feature is proposed to be related to a dynamic sensor function: XPC can rapidly screen duplex DNA for non-hydrogen-bonded bases by forming a transient nucleoprotein intermediate complex which matures into a stable recognition complex through an intrinsic single-stranded DNA-binding activity.;The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition) complex. The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA helix such as single-stranded loops, mismatched bubbles or single-stranded overhangs. The orientation of XPC complex binding appears to be crucial for inducing a productive NER. XPC complex is proposed to recognize and to interact with unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequent scanning for lesions in the opposite strand in a 5'-to-3' direction by the NER machinery. Cyclobutane pyrimidine dimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC complex due to a low degree of structural perurbation. Instead they are detected by the UV-DDB complex which in turn recruits and cooperates with the XPC complex in the respective DNA repair. In vitro, the XPC:RAD23B dimer is sufficient to initiate NER; it preferentially binds to cisplatin and UV-damaged double-stranded DNA and also binds to a variety of chemically and structurally diverse DNA adducts. XPC:RAD23B contacts DNA both 5' and 3' of a cisplatin lesion with a preference for the 5' side. XPC:RAD23B induces a bend in DNA upon binding. XPC:RAD23B stimulates the activity of DNA glycosylases TDG and SMUG1. Sumoylated; sumoylation promotes ubiquitination by RNF111.;Ubiquitinated upon UV irradiation; the ubiquitination requires the UV-DDB complex, appears to be reversible and does not serve as a signal for degradation (PubMed:15882621, PubMed:23751493). Ubiquitinated by RNF11 via 'Lys-63'-linked ubiquitination (PubMed:23751493). Ubiquitination by RNF111 is polysumoylation-dependent and promotes nucleotide excision repair (PubMed:23751493). Belongs to the XPC family. SUMOylation of DNA damage response and repair proteins;DNA Damage Recognition in GG-NER;Formation of Incision Complex in GG-NER PE1 3 +NX_Q01844 RNA-binding protein EWS 656 68478 9.37 0 Cytoplasm;Cell membrane;Nucleolus;Nucleoplasm;Nucleus Ewing sarcoma;Angiomatoid fibrous histiocytoma Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. Phosphorylated; calmodulin-binding inhibits phosphorylation of Ser-266.;Highly methylated on arginine residues. Methylation is mediated by PRMT1 and, at lower level by PRMT8. Belongs to the RRM TET family. NA PE1 22 +NX_Q01850 Cerebellar degeneration-related protein 2 454 51855 5.01 0 Nucleoplasm NA NA NA Belongs to the CDR2 family. NA PE1 16 +NX_Q01851 POU domain, class 4, transcription factor 1 419 42697 9.15 0 Cytoplasm;Nucleus NA Able to act as transcription factor, cannot regulate the expression of the same subset of genes than isoform 1. Does not have antiapoptotic effect on neuronal cells.;Multifunctional transcription factor with different regions mediating its different effects. Acts by binding (via its C-terminal domain) to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes. Regulates the expression of specific genes involved in differentiation and survival within a subset of neuronal lineages. It has been shown that activation of some of these genes requires its N-terminal domain, maybe through a neuronal-specific cofactor. Ativates BCL2 expression and protects neuronal cells from apoptosis (via the N-terminal domain). Induces neuronal process outgrowth and the coordinate expression of genes encoding synaptic proteins. Exerts its major developmental effects in somatosensory neurons and in brainstem nuclei involved in motor control. Stimulates the binding affinity of the nuclear estrogene receptor ESR1 to DNA estrogen response element (ERE), and hence modulates ESR1-induced transcriptional activity. May positively regulate POU4F2 and POU4F3. Regulates dorsal root ganglion sensory neuron specification and axonal projection into the spinal cord. Plays a role in TNFSF11-mediated terminal osteoclast differentiation. Negatively regulates its own expression interacting directly with a highly conserved autoregulatory domain surrounding the transcription initiation site. NA Belongs to the POU transcription factor family. Class-4 subfamily. Regulation of TP53 Activity through Association with Co-factors PE1 13 +NX_Q01860 POU domain, class 5, transcription factor 1 360 38571 5.69 0 Cytoplasm;Nucleus NA Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Forms a trimeric complex with SOX2 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency. ERK1/2-mediated phosphorylation at Ser-111 promotes nuclear exclusion and proteasomal degradation. Phosphorylation at Thr-235 and Ser-236 decrease DNA-binding and alters ability to activate transcription.;Ubiquitinated; undergoes 'Lys-63'-linked polyubiquitination by WWP2 leading to proteasomal degradation.;Sumoylation enhances the protein stability, DNA binding and transactivation activity. Sumoylation is required for enhanced YES1 expression. Belongs to the POU transcription factor family. Class-5 subfamily. Transcriptional regulation of pluripotent stem cells;POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation;POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation PE1 6 +NX_Q01892 Transcription factor Spi-B 262 28819 5.35 0 Cytoplasm;Nucleus NA Sequence specific transcriptional activator which binds to the PU-box, a purine-rich DNA sequence (5'-GAGGAA-3') that can act as a lymphoid-specific enhancer. Promotes development of plasmacytoid dendritic cells (pDCs), also known as type 2 DC precursors (pre-DC2) or natural interferon (IFN)-producing cells. These cells have the capacity to produce large amounts of interferon and block viral replication. May be required for B-cell receptor (BCR) signaling, which is necessary for normal B-cell development and antigenic stimulation. NA Belongs to the ETS family. NA PE1 19 +NX_Q01954 Zinc finger protein basonuclin-1 994 110972 7 0 Cytoplasm;Nucleoplasm;Nucleus NA Transcriptional activator (By similarity). Likely specific for squamous epithelium and for the constituent keratinocytes at a stage either prior to or at the very beginning of terminal differentiation (PubMed:8034748). Required for the maintenance of spermatogenesis (By similarity). May also play a role in the differentiation of oocytes and the early development of embryos (By similarity). Phosphorylation on Ser-537 and Ser-541 leads to cytoplasmic localization. NA NA PE1 15 +NX_Q01955 Collagen alpha-3(IV) chain 1670 161813 9.28 0 Endoplasmic reticulum;Cytoplasmic vesicle;Basement membrane Alport syndrome 2, autosomal recessive;Alport syndrome 3, autosomal dominant;Hematuria, benign familial Tumstatin, a cleavage fragment corresponding to the collagen alpha 3(IV) NC1 domain, possesses both anti-angiogenic and anti-tumor cell activity; these two anti-tumor properties may be regulated via RGD-independent ITGB3-mediated mechanisms.;Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. Contains an additional N-linked glycosylation site.;Phosphorylated. Thought to be phosphorylated by CERT, but CERT does not have kinase activity.;The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues.;Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.;Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens. Belongs to the type IV collagen family. Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Non-integrin membrane-ECM interactions;Laminin interactions;Crosslinking of collagen fibrils;Anchoring fibril formation;Extracellular matrix organization;Collagen chain trimerization PE1 2 +NX_Q01959 Sodium-dependent dopamine transporter 620 68495 6.46 12 Cytoplasmic vesicle;Cell membrane Parkinsonism-dystonia infantile Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals. SLC6A3 is phosphorylated by MAPK14 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SLC6A3 is phosphorylated by MAPK3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SLC6A3 is phosphorylated by MAPK9 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A3 subfamily. Dopaminergic synapse;Parkinson's disease;Na+/Cl- dependent neurotransmitter transporters;Dopamine clearance from the synaptic cleft;Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS);Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS) PE1 5 +NX_Q01968 Inositol polyphosphate 5-phosphatase OCRL 901 104205 6.13 0 trans-Golgi network;Phagosome membrane;Photoreceptor outer segment;Centriolar satellite;Cilium;Clathrin-coated pit;Endosome;Lysosome;Early endosome membrane;Cytoplasmic vesicle;Cytosol;Cytoskeleton Dent disease 2;Lowe oculocerebrorenal syndrome Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate (PtdIns(3,4,5)P3), with the greatest catalytic activity towards PtdIns(4,5)P2 (PubMed:7761412, PubMed:15474001, PubMed:9430698, PubMed:10764818). Able also to hydrolyzes the 4-phosphate of inositol 1,4,5-trisphosphate and of inositol 1,3,4,5-tetrakisphosphate (PubMed:7761412, PubMed:25869668). Regulates traffic in the endosomal pathway by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with endosomes (PubMed:21971085). Involved in primary cilia assembly (PubMed:22228094, PubMed:22543976). Acts as a regulator of phagocytosis, hydrolyzing PtdIns(4,5)P2 to promote phagosome closure, through attenuation of PI3K signaling (PubMed:22072788). NA Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PIPs at the plasma membrane;Synthesis of PIPs at the Golgi membrane;Rho GTPase cycle;Golgi Associated Vesicle Biogenesis;Synthesis of IP2, IP, and Ins in the cytosol;Synthesis of IP3 and IP4 in the cytosol;Clathrin-mediated endocytosis PE1 X +NX_Q01970 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 1234 138799 5.68 0 Membrane;Nucleoplasm NA The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. NA NA Inositol phosphate metabolism;Metabolic pathways;Calcium signaling pathway;Chemokine signaling pathway;Phosphatidylinositol signaling system;Vascular smooth muscle contraction;Wnt signaling pathway;Gap junction;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;Dopaminergic synapse;Long-term depression;GnRH signaling pathway;Melanogenesis;Endocrine and other factor-regulated calcium reabsorption;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Alzheimer's disease;Huntington's disease;Chagas disease (American trypanosomiasis);African trypanosomiasis;Amoebiasis;G alpha (q) signalling events;Ca2+ pathway;G beta:gamma signalling through PLC beta;Presynaptic function of Kainate receptors;Synthesis of IP3 and IP4 in the cytosol;PLC beta mediated events;Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion;Acetylcholine regulates insulin secretion PE1 11 +NX_Q01973 Inactive tyrosine-protein kinase transmembrane receptor ROR1 937 104283 6.76 1 Membrane;Axon;Cytoskeleton Deafness, autosomal recessive, 108 Has very low kinase activity in vitro and is unlikely to function as a tyrosine kinase in vivo (PubMed:25029443). Receptor for ligand WNT5A which activate downstream NFkB signaling pathway and may result in the inhibition of WNT3A-mediated signaling (PubMed:25029443, PubMed:27162350). In inner ear, crucial for spiral ganglion neurons to innervate auditory hair cells (PubMed:27162350). NA Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily. WNT5A-dependent internalization of FZD2, FZD5 and ROR2 PE1 1 +NX_Q01974 Tyrosine-protein kinase transmembrane receptor ROR2 943 104757 6.1 1 Cell membrane Robinow syndrome autosomal recessive;Brachydactyly B1 Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. It seems to be required for cartilage and growth plate development (By similarity). Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation (PubMed:17717073). In contrast, has also been shown to have very little tyrosine kinase activity in vitro. May act as a receptor for wnt ligand WNT5A which may result in the inhibition of WNT3A-mediated signaling (PubMed:25029443). ROR2 is phosphorylated by GSK3A Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily. PCP/CE pathway;WNT5A-dependent internalization of FZD2, FZD5 and ROR2 PE1 9 +NX_Q01995 Transgelin 201 22611 8.87 0 Cytoplasm;Cytosol;Mitochondrion;Cytoskeleton NA Actin cross-linking/gelling protein (By similarity). Involved in calcium interactions and contractile properties of the cell that may contribute to replicative senescence. NA Belongs to the calponin family. NA PE1 11 +NX_Q02040 A-kinase anchor protein 17A 695 80735 9.76 0 Cytosol;Nucleus speckle NA Splice factor regulating alternative splice site selection for certain mRNA precursors. Mediates regulation of pre-mRNA splicing in a PKA-dependent manner. NA NA NA PE1 X +NX_Q02045 Myosin light chain 5 173 19534 4.87 0 Nucleoplasm;Nucleolus NA NA NA NA Focal adhesion;Tight junction;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Smooth Muscle Contraction PE1 4 +NX_Q02078 Myocyte-specific enhancer factor 2A 507 54811 7.72 0 Nucleoplasm;Nucleus Coronary artery disease, autosomal dominant, 1 Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific genes. Also involved in the activation of numerous growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. In cerebellar granule neurons, phosphorylated and sumoylated MEF2A represses transcription of NUR77 promoting synaptic differentiation. Associates with chromatin to the ZNF16 promoter. Proteolytically cleaved in cerebellar granule neurons on several sites by caspase 3 and caspase 7 following neurotoxicity. Preferentially cleaves the CDK5-mediated hyperphosphorylated form which leads to neuron apoptosis and transcriptional inactivation.;Acetylation on Lys-403 activates transcriptional activity. Acetylated by p300 on several sites in diffentiating myocytes. Acetylation on Lys-4 increases DNA binding and transactivation (By similarity). Hyperacetylation by p300 leads to enhanced cardiac myocyte growth and heart failure.;Sumoylation on Lys-403 is enhanced by PIAS1 and represses transcriptional activity. Phosphorylation on Ser-408 is required for sumoylation. Has no effect on nuclear location nor on DNA binding. Sumoylated with SUMO1 and, to a lesser extent with SUMO2 and SUMO3. PIASx facilitates sumoylation in postsynaptic dendrites in the cerebellar cortex and promotes their morphogenesis (By similarity).;Constitutive phosphorylation on Ser-408 promotes Lys-403 sumoylation thus preventing acetylation at this site. Dephosphorylation on Ser-408 by PPP3CA upon neuron depolarization promotes a switch from sumoylation to acetylation on residue Lys-403 leading to inhibition of dendrite claw differentiation. Phosphorylation on Thr-312 and Thr-319 are the main sites involved in p38 MAPK signaling and activate transcription. Phosphorylated on these sites by MAPK14/p38alpha and MAPK11/p38beta, but not by MAPK13/p38delta nor by MAPK12/p38gamma. Phosphorylation on Ser-408 by CDK5 induced by neurotoxicity inhibits MEF2A transcriptional activation leading to apoptosis of cortical neurons. Phosphorylation on Thr-312, Thr-319 and Ser-355 can be induced by EGF. Belongs to the MEF2 family. ERK/MAPK targets;Myogenesis PE1 15 +NX_Q02080 Myocyte-specific enhancer factor 2B 365 38639 9.58 0 Nucleoplasm;Cytosol;Cell junction;Nucleus NA Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific genes. Activates transcription via this element. May be involved in muscle-specific and/or growth factor-related transcription. NA Belongs to the MEF2 family. Myogenesis PE1 19 +NX_Q02083 N-acylethanolamine-hydrolyzing acid amidase 359 40066 8.88 0 Membrane;Lysosome NA Degrades bioactive fatty acid amides to their corresponding acids, with the following preference: N-palmitoylethanolamine > N-myristoylethanolamine > N-lauroylethanolamine = N-stearoylethanolamine > N-arachidonoylethanolamine > N-oleoylethanolamine (PubMed:15655246, PubMed:17980170, PubMed:18793752, PubMed:30301806). Also exhibits weak hydrolytic activity against the ceramides N-lauroylsphingosine and N-palmitoylsphingosine (PubMed:15655246). N-glycosylated (PubMed:17980170, PubMed:18793752, PubMed:30301806). Tunicamycin treatment causes a reduction in specific activity against N-palmitoylethanolamine.;Autoproteolytic cleavage at pH 4.5 gives rise to the alpha and beta subunit (PubMed:15655246, PubMed:22040171, PubMed:17980170, PubMed:18793752, PubMed:30301806). Cleavage gives rise to a conformation change that activates the enzyme (PubMed:17980170, PubMed:18793752, PubMed:30301806, PubMed:22040171). The same catalytic Cys residue mediates the autoproteolytic cleavage and subsequent hydrolysis of lipid substrates (PubMed:17980170, PubMed:18793752) (Probable).;A disulfide bond is seen in the crystal structure of the human protein, but the Cys residues are not conserved in rodents. Belongs to the acid ceramidase family. Lipid metabolism; fatty acid metabolism.;Neurotransmitter release cycle PE1 4 +NX_Q02086 Transcription factor Sp2 613 64900 9.95 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Binds to GC box promoters elements and selectively activates mRNA synthesis from genes that contain functional recognition sites. NA Belongs to the Sp1 C2H2-type zinc-finger protein family. NA PE1 17 +NX_Q02094 Ammonium transporter Rh type A 409 44198 6.35 12 Membrane;Endoplasmic reticulum Regulator type Rh-null hemolytic anemia;Overhydrated hereditary stomatocytosis Associated with rhesus blood group antigen expression (PubMed:19744193). May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane (PubMed:11062476, PubMed:11861637). Involved in ammonia transport across the erythrocyte membrane (PubMed:21849667, PubMed:22012326). Seems to act in monovalent cation transport (PubMed:18931342, PubMed:21849667). Glycosylated. Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily. Rhesus glycoproteins mediate ammonium transport;Erythrocytes take up carbon dioxide and release oxygen;Erythrocytes take up oxygen and release carbon dioxide;Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) PE1 6 +NX_Q02108 Guanylate cyclase soluble subunit alpha-1 690 77452 6.75 0 Nucleoplasm;Cytoplasm Moyamoya disease 6 with or without achalasia NA NA Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Vascular smooth muscle contraction;Gap junction;Long-term depression;Salivary secretion;Smooth Muscle Contraction;Nitric oxide stimulates guanylate cyclase PE1 4 +NX_Q02127 Dihydroorotate dehydrogenase (quinone), mitochondrial 395 42867 9.66 1 Nucleoplasm;Cytosol;Mitochondrion inner membrane;Mitochondrion Postaxial acrofacial dysostosis Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor. The uncleaved transit peptide is required for mitochondrial targeting and proper membrane integration. Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily. Pyrimidine metabolism; UMP biosynthesis via de novo pathway; orotate from (S)-dihydroorotate (quinone route): step 1/1.;Pyrimidine metabolism;Metabolic pathways;Pyrimidine biosynthesis PE1 16 +NX_Q02153 Guanylate cyclase soluble subunit beta-1 619 70514 5.2 0 Cytoplasm;Cytosol NA Mediates responses to nitric oxide (NO) by catalyzing the biosynthesis of the signaling molecule cGMP. NA Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Vascular smooth muscle contraction;Gap junction;Long-term depression;Salivary secretion;Smooth Muscle Contraction;Nitric oxide stimulates guanylate cyclase PE1 4 +NX_Q02156 Protein kinase C epsilon type 737 83674 6.73 0 Cytoplasm;Cell membrane;Cytoplasmic vesicle;Perinuclear region;Nucleus;Cytoskeleton NA Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays essential roles in the regulation of multiple cellular processes linked to cytoskeletal proteins, such as cell adhesion, motility, migration and cell cycle, functions in neuron growth and ion channel regulation, and is involved in immune response, cancer cell invasion and regulation of apoptosis. Mediates cell adhesion to the extracellular matrix via integrin-dependent signaling, by mediating angiotensin-2-induced activation of integrin beta-1 (ITGB1) in cardiac fibroblasts. Phosphorylates MARCKS, which phosphorylates and activates PTK2/FAK, leading to the spread of cardiomyocytes. Involved in the control of the directional transport of ITGB1 in mesenchymal cells by phosphorylating vimentin (VIM), an intermediate filament (IF) protein. In epithelial cells, associates with and phosphorylates keratin-8 (KRT8), which induces targeting of desmoplakin at desmosomes and regulates cell-cell contact. Phosphorylates IQGAP1, which binds to CDC42, mediating epithelial cell-cell detachment prior to migration. In HeLa cells, contributes to hepatocyte growth factor (HGF)-induced cell migration, and in human corneal epithelial cells, plays a critical role in wound healing after activation by HGF. During cytokinesis, forms a complex with YWHAB, which is crucial for daughter cell separation, and facilitates abscission by a mechanism which may implicate the regulation of RHOA. In cardiac myocytes, regulates myofilament function and excitation coupling at the Z-lines, where it is indirectly associated with F-actin via interaction with COPB1. During endothelin-induced cardiomyocyte hypertrophy, mediates activation of PTK2/FAK, which is critical for cardiomyocyte survival and regulation of sarcomere length. Plays a role in the pathogenesis of dilated cardiomyopathy via persistent phosphorylation of troponin I (TNNI3). Involved in nerve growth factor (NFG)-induced neurite outgrowth and neuron morphological change independently of its kinase activity, by inhibition of RHOA pathway, activation of CDC42 and cytoskeletal rearrangement. May be involved in presynaptic facilitation by mediating phorbol ester-induced synaptic potentiation. Phosphorylates gamma-aminobutyric acid receptor subunit gamma-2 (GABRG2), which reduces the response of GABA receptors to ethanol and benzodiazepines and may mediate acute tolerance to the intoxicating effects of ethanol. Upon PMA treatment, phosphorylates the capsaicin- and heat-activated cation channel TRPV1, which is required for bradykinin-induced sensitization of the heat response in nociceptive neurons. Is able to form a complex with PDLIM5 and N-type calcium channel, and may enhance channel activities and potentiates fast synaptic transmission by phosphorylating the pore-forming alpha subunit CACNA1B (CaV2.2). In prostate cancer cells, interacts with and phosphorylates STAT3, which increases DNA-binding and transcriptional activity of STAT3 and seems to be essential for prostate cancer cell invasion. Downstream of TLR4, plays an important role in the lipopolysaccharide (LPS)-induced immune response by phosphorylating and activating TICAM2/TRAM, which in turn activates the transcription factor IRF3 and subsequent cytokines production. In differentiating erythroid progenitors, is regulated by EPO and controls the protection against the TNFSF10/TRAIL-mediated apoptosis, via BCL2. May be involved in the regulation of the insulin-induced phosphorylation and activation of AKT1. Phosphorylation on Thr-566 by PDPK1 triggers autophosphorylation on Ser-729. Phosphorylation in the hinge domain at Ser-350 by MAPK11 or MAPK14, Ser-346 by GSK3B and Ser-368 by autophosphorylation is required for interaction with YWHAB. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily. Vascular smooth muscle contraction;Tight junction;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Type II diabetes mellitus;Effects of PIP2 hydrolysis;SHC1 events in ERBB2 signaling;G alpha (z) signalling events;Role of phospholipids in phagocytosis;DAG and IP3 signaling PE1 2 +NX_Q02161 Blood group Rh(D) polypeptide 417 45211 8.71 11 Cytoplasm;Cell membrane NA May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane. Palmitoylated. Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily. Rhesus blood group biosynthesis PE1 1 +NX_Q02218 2-oxoglutarate dehydrogenase, mitochondrial 1023 115935 6.39 0 Mitochondrion matrix;Mitochondrion;Nucleus NA 2-oxoglutarate dehydrogenase (E1) component of the 2-oxoglutarate dehydrogenase complex, which mediates the decarboxylation of alpha-ketoglutarate (PubMed:24495017). The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2) (PubMed:24495017). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711). OGDH is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255) Belongs to the alpha-ketoglutarate dehydrogenase family. Citrate cycle (TCA cycle);Lysine degradation;Tryptophan metabolism;Metabolic pathways;Citric acid cycle (TCA cycle);Lysine catabolism;Glyoxylate metabolism and glycine degradation PE1 7 +NX_Q02221 Cytochrome c oxidase subunit 6A2, mitochondrial 97 10815 10.91 0 Mitochondrion inner membrane NA This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. NA Belongs to the cytochrome c oxidase subunit 6A family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease PE1 16 +NX_Q02223 Tumor necrosis factor receptor superfamily member 17 184 20165 5.24 1 Endomembrane system;Cell membrane NA Receptor for TNFSF13B/BLyS/BAFF and TNFSF13/APRIL. Promotes B-cell survival and plays a role in the regulation of humoral immunity. Activates NF-kappa-B and JNK. NA NA Cytokine-cytokine receptor interaction;Intestinal immune network for IgA production;TNFs bind their physiological receptors PE1 16 +NX_Q02224 Centromere-associated protein E 2701 316415 5.51 0 Nucleoplasm;Centromere;Cytosol;Spindle;Kinetochore;Cytoskeleton Microcephaly 13, primary, autosomal recessive Microtubule plus-end-directed kinetochore motor which plays an important role in chromosome congression, microtubule-kinetochore conjugation and spindle assembly checkpoint activation. Drives chromosome congression (alignment of chromosomes at the spindle equator resulting in the formation of the metaphase plate) by mediating the lateral sliding of polar chromosomes along spindle microtubules towards the spindle equator and by aiding the establishment and maintenance of connections between kinetochores and spindle microtubules (PubMed:7889940, PubMed:23891108, PubMed:25395579). The transport of pole-proximal chromosomes towards the spindle equator is favored by microtubule tracks that are detyrosinated (PubMed:25908662). Acts as a processive bi-directional tracker of dynamic microtubule tips; after chromosomes have congressed, continues to play an active role at kinetochores, enhancing their links with dynamic microtubule ends (PubMed:23955301). Suppresses chromosome congression in NDC80-depleted cells and contributes positively to congression only when microtubules are stabilized (PubMed:25743205). Plays an important role in the formation of stable attachments between kinetochores and spindle microtubules (PubMed:17535814) The stabilization of kinetochore-microtubule attachment also requires CENPE-dependent localization of other proteins to the kinetochore including BUB1B, MAD1 and MAD2. Plays a role in spindle assembly checkpoint activation (SAC) via its interaction with BUB1B resulting in the activation of its kinase activity, which is important for activating SAC. Necessary for the mitotic checkpoint signal at individual kinetochores to prevent aneuploidy due to single chromosome loss (By similarity). Sumoylated with SUMO2 and SUMO3. The sumoylation mediates the association to the kinetochore.;The C-terminal inhibitory domain is phosphorylated. Phosphorylation relieves autoinhibition of the kinetochore motor (By similarity). Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Separation of Sister Chromatids;MHC class II antigen presentation;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;COPI-dependent Golgi-to-ER retrograde traffic PE1 4 +NX_Q02241 Kinesin-like protein KIF23 960 110059 8.76 0 Nucleoplasm;Spindle;Nucleus;Midbody ring NA Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Essential for cytokinesis in Rho-mediated signaling. Required for the localization of ECT2 to the central spindle. Plus-end-directed motor enzyme that moves antiparallel microtubules in vitro. Ubiquitinated. Deubiquitinated by USP8/UBPY. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. MHC class II antigen presentation;Kinesins;Mitotic Telophase/Cytokinesis;COPI-dependent Golgi-to-ER retrograde traffic PE1 15 +NX_Q02246 Contactin-2 1040 113393 8.11 0 Cell membrane Epilepsy, familial adult myoclonic, 5 In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion. NA Belongs to the immunoglobulin superfamily. Contactin family. Cell adhesion molecules (CAMs);NCAM1 interactions;L1CAM interactions;NrCAM interactions PE1 1 +NX_Q02252 Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial 535 57840 8.72 0 Mitochondrion Methylmalonate semialdehyde dehydrogenase deficiency Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA. NA Belongs to the aldehyde dehydrogenase family. Valine, leucine and isoleucine degradation;beta-Alanine metabolism;Inositol phosphate metabolism;Propanoate metabolism;Metabolic pathways;Branched-chain amino acid catabolism PE1 14 +NX_Q02297 Pro-neuregulin-1, membrane-bound isoform 640 70392 9 1 Cell membrane;Secreted;Membrane;Nucleoplasm;Nucleus NA Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. The multiple isoforms perform diverse functions such as inducing growth and differentiation of epithelial, glial, neuronal, and skeletal muscle cells; inducing expression of acetylcholine receptor in synaptic vesicles during the formation of the neuromuscular junction; stimulating lobuloalveolar budding and milk production in the mammary gland and inducing differentiation of mammary tumor cells; stimulating Schwann cell proliferation; implication in the development of the myocardium such as trabeculation of the developing heart.;May play a role in motor and sensory neuron development. Binds to ERBB4 (PubMed:10867024, PubMed:7902537). Binds to ERBB3 (PubMed:20682778). Acts as a ligand for integrins and binds (via EGF domain) to integrins ITGAV:ITGB3 or ITGA6:ITGB4. Its binding to integrins and subsequent ternary complex formation with integrins and ERRB3 are essential for NRG1-ERBB signaling. Induces the phosphorylation and activation of MAPK3/ERK1, MAPK1/ERK2 and AKT1 (PubMed:20682778). Ligand-dependent ERBB4 endocytosis is essential for the NRG1-mediated activation of these kinases in neurons (By similarity). Proteolytic cleavage close to the plasma membrane on the external face leads to the release of the soluble growth factor form.;N- and O-glycosylated. Extensive glycosylation precedes the proteolytic cleavage (By similarity). Belongs to the neuregulin family. ErbB signaling pathway;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Signaling by ERBB2;Signaling by ERBB4;SHC1 events in ERBB2 signaling;PI3K events in ERBB4 signaling;SHC1 events in ERBB4 signaling;Nuclear signaling by ERBB4;GRB2 events in ERBB2 signaling;PI3K events in ERBB2 signaling;GRB7 events in ERBB2 signaling;Downregulation of ERBB2:ERBB3 signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;ERBB2 Regulates Cell Motility;ERBB2 Activates PTK6 Signaling;Downregulation of ERBB2 signaling;Long-term potentiation PE1 8 +NX_Q02318 Sterol 26-hydroxylase, mitochondrial 531 60235 9.05 0 Mitochondrion inner membrane;Mitochondrion Cerebrotendinous xanthomatosis Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol side-chain in a three step reaction to yield at first a C26 alcohol, then a C26 aldehyde and finally a C26 acid (PubMed:9660774, PubMed:12077124, PubMed:21411718, PubMed:28190002). Regulates cholesterol homeostasis by catalyzing the conversion of excess cholesterol to bile acids via both the 'neutral' (classic) and the 'acid' (alternative) pathways (PubMed:9660774, PubMed:1708392, PubMed:11412116, PubMed:2019602, PubMed:7915755, PubMed:9186905, PubMed:9790667). May also regulate cholesterol homeostasis via generation of active oxysterols, which act as ligands for NR1H2 and NR1H3 nuclear receptors, modulating the transcription of genes involved in lipid metabolism (PubMed:9660774, PubMed:12077124). Plays a role in cholestanol metabolism in the cerebellum. Similarly to cholesterol, hydroxylates cholestanol and may facilitate sterol diffusion through the blood-brain barrier to the systemic circulation for further degradation (PubMed:28190002). Also hydroxylates retinal 7-ketocholesterol, a noxious oxysterol with pro-inflammatory and pro-apoptotic effects, and may play a role in its elimination from the retinal pigment epithelium (PubMed:21411718). May play a redundant role in vitamin D biosynthesis. Catalyzes 25-hydroxylation of vitamin D3 that is required for its conversion to a functionally active form (PubMed:15465040). NA Belongs to the cytochrome P450 family. Lipid metabolism; bile acid biosynthesis.;Steroid metabolism; cholesterol degradation.;Hormone biosynthesis; cholecalciferol biosynthesis.;Primary bile acid biosynthesis;Metabolic pathways;PPAR signaling pathway;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 24-hydroxycholesterol;Synthesis of bile acids and bile salts via 27-hydroxycholesterol;Endogenous sterols;Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX) PE1 2 +NX_Q02325 Plasminogen-like protein B 96 10971 6.11 0 Secreted NA May bind noncovalently to lysine binding sites present in the kringle structures of plasminogen. This may interfere with the binding of fibrin or alpha-2-antiplasmin to plasminogen and may result in the localization of activity at sites necessary for extracellular matrix destruction. NA NA NA PE3 2 +NX_Q02338 D-beta-hydroxybutyrate dehydrogenase, mitochondrial 343 38157 9.1 0 Mitochondrion matrix;Mitochondrion inner membrane;Mitochondrion NA NA NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Synthesis and degradation of ketone bodies;Butanoate metabolism;Metabolic pathways;Synthesis of Ketone Bodies;Utilization of Ketone Bodies PE1 3 +NX_Q02363 DNA-binding protein inhibitor ID-2 134 14917 7.82 0 Cytoplasm;Nucleoplasm;Centrosome;Nucleus NA Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Inhibits skeletal muscle and cardiac myocyte differentiation. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Restricts the CLOCK and ARNTL/BMAL1 localization to the cytoplasm. Plays a role in both the input and output pathways of the circadian clock: in the input component, is involved in modulating the magnitude of photic entrainment and in the output component, contributes to the regulation of a variety of liver clock-controlled genes involved in lipid metabolism. NA NA TGF-beta signaling pathway PE1 2 +NX_Q02383 Semenogelin-2 582 65444 9.09 0 Secreted NA Participates in the formation of a gel matrix (sperm coagulum) entrapping the accessory gland secretions and ejaculated spermatozoa. Semenogelin-2 is thought to form both the 71 kDa polypeptide and, in its glycosylated form, the 76 kDa polypeptide. Belongs to the semenogelin family. NA PE1 20 +NX_Q02386 Zinc finger protein 45 682 78242 8.98 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q02388 Collagen alpha-1(VII) chain 2944 295220 5.95 0 Basement membrane Epidermolysis bullosa dystrophica, autosomal recessive;Epidermolysis bullosa dystrophica, with subcorneal cleavage;Nail disorder, non-syndromic congenital, 8;Epidermolysis bullosa dystrophica, autosomal dominant;Epidermolysis bullosa dystrophica, Bart type;Epidermolysis bullosa dystrophica, pretibial type;Epidermolysis bullosa pruriginosa;Transient bullous dermolysis of the newborn Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. NA Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;Assembly of collagen fibrils and other multimeric structures;Laminin interactions;COPII-mediated vesicle transport;Anchoring fibril formation;Extracellular matrix organization;Cargo concentration in the ER;Collagen chain trimerization PE1 3 +NX_Q02410 Amyloid-beta A4 precursor protein-binding family A member 1 837 92865 4.84 0 Golgi apparatus;Cytoplasm;Perinuclear region;Nucleus NA Putative function in synaptic vesicle exocytosis by binding to Munc18-1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta. NA NA Dopamine Neurotransmitter Release Cycle;Neurexins and neuroligins;Assembly and cell surface presentation of NMDA receptors PE1 9 +NX_Q02413 Desmoglein-1 1049 113748 4.9 1 Desmosome;Cell membrane Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE;Palmoplantar keratoderma 1, striate, focal, or diffuse Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. NA NA Staphylococcus aureus infection;Apoptotic cleavage of cell adhesion proteins;Neutrophil degranulation;Formation of the cornified envelope;Keratinization PE1 18 +NX_Q02446 Transcription factor Sp4 784 81985 6.61 0 Nucleoplasm;Cytosol;Nucleus NA Binds to GT and GC boxes promoters elements. Probable transcriptional activator. NA Belongs to the Sp1 C2H2-type zinc-finger protein family. NA PE1 7 +NX_Q02447 Transcription factor Sp3 781 81925 5.09 0 Nucleus;PML body NA Transcriptional factor that can act as an activator or repressor depending on isoform and/or post-translational modifications. Binds to GT and GC boxes promoter elements. Competes with SP1 for the GC-box promoters. Weak activator of transcription but can activate a number of genes involved in different processes such as cell-cycle regulation, hormone-induction and house-keeping. Acetylated by histone acetyltransferase p300, deacetylated by HDACs. Acetylation/deacetylation states regulate transcriptional activity. Acetylation appears to activate transcription. Alternate sumoylation and acetylation at Lys-551 also control transcriptional activity. Ceramides can also regulate acetylation/deacetylation events through altering the interaction of HDAC with SP3. In vitro, C(18)-ceramides, but not C(16)-ceramides, increase the interaction of HDAC1 with SP3 and enhance the deacetylation of SP3 and the subsequent repression of the TERT promoter.;Not glycosylated.;Sumoylated on all isoforms. Sumoylated on 2 sites in longer isoforms with Lys-551 being the major site. Sumoylation at this site promotes nuclear localization to the nuclear periphery, nuclear dots and PML nuclear bodies. Sumoylation on Lys-551 represses the transactivation activity, except for the largest isoform, L-Sp3, which has little effect on transactivation. Alternate sumoylation and acetylation at Lys-551 also control transcriptional activity. Belongs to the Sp1 C2H2-type zinc-finger protein family. SUMOylation of transcription factors PE1 2 +NX_Q02487 Desmocollin-2 901 99962 5.19 1 Desmosome;Cell membrane Arrhythmogenic right ventricular dysplasia, familial, 11 Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. NA NA Arrhythmogenic right ventricular cardiomyopathy (ARVC);Formation of the cornified envelope;Keratinization PE1 18 +NX_Q02505 Mucin-3A 3323 345127 5.14 1 Membrane;Secreted NA Major glycoprotein component of a variety of mucus gels. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. May be involved in ligand binding and intracellular signaling. Highly O-glycosylated and probably also N-glycosylated. NA O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1) PE1 7 +NX_Q02509 Otoconin-90 477 51728 4.76 0 Secreted NA Major protein of the otoconia, a calcium carbonate structure in the saccule and utricle of the ear. Together with OTOL1, acts as a scaffold for otoconia biomineralization: sequesters calcium and forms interconnecting fibrils between otoconia that are incorporated into the calcium crystal structure. Together with OTOL1, modulates calcite crystal morphology and growth kinetics. It is unlikely that this protein has phospholipase A2 activity. NA Belongs to the phospholipase A2 family. NA PE2 8 +NX_Q02535 DNA-binding protein inhibitor ID-3 119 12999 5.55 0 Nucleoplasm;Nucleus NA Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Involved in myogenesis by inhibiting skeletal muscle and cardiac myocyte differentiation and promoting muscle precursor cells proliferation. Inhibits the binding of E2A-containing protein complexes to muscle creatine kinase E-box enhancer. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. NA NA TGF-beta signaling pathway PE1 1 +NX_Q02539 Histone H1.1 215 21842 10.99 0 Nucleus;Chromosome NA Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity). Citrullination at Arg-57 (H1R54ci) by PADI4 takes place within the DNA-binding site of H1 and results in its displacement from chromatin and global chromatin decondensation, thereby promoting pluripotency and stem cell maintenance.;H1 histones are progressively phosphorylated during the cell cycle, becoming maximally phosphorylated during late G2 phase and M phase, and being dephosphorylated sharply thereafter.;HIST1H1A is phosphorylated by LMTK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the histone H1/H5 family. Formation of Senescence-Associated Heterochromatin Foci (SAHF);Apoptosis induced DNA fragmentation PE1 6 +NX_Q02543 60S ribosomal protein L18a 176 20762 10.72 0 Cytosol;Nucleolus NA NA NA Belongs to the eukaryotic ribosomal protein eL20 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 19 +NX_Q02548 Paired box protein Pax-5 391 42149 9.08 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus Leukemia, acute lymphoblastic, 3 May play an important role in B-cell differentiation as well as neural development and spermatogenesis. Involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene. O-glycosylated. NA RUNX1 regulates transcription of genes involved in BCR signaling PE1 9 +NX_Q02556 Interferon regulatory factor 8 426 48356 6.38 0 Cytoplasm;Nucleoplasm;Nucleus Immunodeficiency 32A;Immunodeficiency 32B Plays a role as a transcriptional activator or repressor (PubMed:25122610). Specifically binds to the upstream regulatory region of type I IFN and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)). Plays a negative regulatory role in cells of the immune system. Involved in CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF8 and activation of genes (By similarity). Positively regulates macroautophagy in dendritic cells (PubMed:29434592). Sumoylated with SUMO3. Desumoylated by SENP1.;Ubiquitinated (PubMed:25122610). Ubiquitination by TRIM21 in macrophages, a process that is strongly increased upon interferon gamma stimulation, leds to the enhanced transcriptional activity of target cytokine genes (By similarity). Ubiquitination leads to its degradation by the proteasome (PubMed:25122610). Belongs to the IRF family. Pertussis;Interferon gamma signaling;Interferon alpha/beta signaling PE1 16 +NX_Q02575 Helix-loop-helix protein 1 133 14618 9.06 0 Golgi apparatus;Nucleus NA May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system. NA NA NA PE2 1 +NX_Q02577 Helix-loop-helix protein 2 135 15018 7.91 0 Nucleoplasm;Nucleus NA May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system. NA NA NA PE1 1 +NX_Q02641 Voltage-dependent L-type calcium channel subunit beta-1 598 65714 6.33 0 Sarcolemma;Cell membrane NA Regulatory subunit of L-type calcium channels (PubMed:1309651, PubMed:8107964, PubMed:15615847). Regulates the activity of L-type calcium channels that contain CACNA1A as pore-forming subunit (By similarity). Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit and increases the presence of the channel complex at the cell membrane (PubMed:15615847). Required for functional expression L-type calcium channels that contain CACNA1D as pore-forming subunit (PubMed:1309651). Regulates the activity of L-type calcium channels that contain CACNA1B as pore-forming subunit (PubMed:8107964). CACNB1 is phosphorylated by CAMK2D (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the calcium channel beta subunit family. MAPK signaling pathway;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;NCAM1 interactions;Presynaptic depolarization and calcium channel opening;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 17 +NX_Q02643 Growth hormone-releasing hormone receptor 423 47402 6.26 7 Cell membrane Growth hormone deficiency, isolated, 4 Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion. NA Belongs to the G-protein coupled receptor 2 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Glucagon-type ligand receptors PE1 7 +NX_Q02742 Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 428 49799 8.65 1 Nucleus speckle;Golgi apparatus membrane NA Glycosyltransferase that catalyzes the transfer of an N-acetylglucosamine moiety onto mucin-type core 1 O-glycan to form the branched mucin-type core 2 O-glycan. Mucin-type core 2 O-glycans play an important role in leukocyte extravasation as they serve as scaffolds for the display of the selectin ligand sialyl Lewis X by leukocytes. GCNT1 is phosphorylated by PRKCB (Phosphoserine:PTM-0253) Belongs to the glycosyltransferase 14 family. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 9 +NX_Q02747 Guanylin 115 12388 4.56 0 Secreted NA Endogenous activator of intestinal guanylate cyclase. It stimulates this enzyme through the same receptor binding region as the heat-stable enterotoxins. NA Belongs to the guanylin family. Digestion PE1 1 +NX_Q02750 Dual specificity mitogen-activated protein kinase kinase 1 393 43439 6.18 0 Cytoplasm;Cell membrane;Membrane;Spindle pole body;Centrosome;Cytosol;Nucleus Cardiofaciocutaneous syndrome 3 Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors activates RAS and this initiates RAF1 activation. RAF1 then further activates the dual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2. Both MAP2K1/MEK1 and MAP2K2/MEK2 function specifically in the MAPK/ERK cascade, and catalyze the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in the extracellular signal-regulated kinases MAPK3/ERK1 and MAPK1/ERK2, leading to their activation and further transduction of the signal within the MAPK/ERK cascade. Activates BRAF in a KSR1 or KSR2-dependent manner; by binding to KSR1 or KSR2 releases the inhibitory intramolecular interaction between KSR1 or KSR2 protein kinase and N-terminal domains which promotes KSR1 or KSR2-BRAF dimerization and BRAF activation (PubMed:29433126). Depending on the cellular context, this pathway mediates diverse biological functions such as cell growth, adhesion, survival and differentiation, predominantly through the regulation of transcription, metabolism and cytoskeletal rearrangements. One target of the MAPK/ERK cascade is peroxisome proliferator-activated receptor gamma (PPARG), a nuclear receptor that promotes differentiation and apoptosis. MAP2K1/MEK1 has been shown to export PPARG from the nucleus. The MAPK/ERK cascade is also involved in the regulation of endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC), as well as in the fragmentation of the Golgi apparatus during mitosis. Acetylation by Yersinia yopJ prevents phosphorylation and activation, thus blocking the MAPK signaling pathway.;Phosphorylation at Ser-218 and Ser-222 by MAP kinase kinase kinases (BRAF or MEKK1) positively regulates kinase activity (PubMed:29433126, PubMed:8131746). Also phosphorylated at Thr-292 by MAPK1/ERK2 and at Ser-298 by PAK (PubMed:16129686). MAPK1/ERK2 phosphorylation of Thr-292 occurs in response to cellular adhesion and leads to inhibition of Ser-298 phosphorylation by PAK (PubMed:16129686).;MAP2K1 is phosphorylated by CAMK2G (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAP2K1 is phosphorylated by PRKCZ (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. MAPK signaling pathway;ErbB signaling pathway;Chemokine signaling pathway;Oocyte meiosis;Vascular smooth muscle contraction;Dorso-ventral axis formation;VEGF signaling pathway;Osteoclast differentiation;Focal adhesion;Gap junction;Toll-like receptor signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Long-term potentiation;Neurotrophin signaling pathway;Cholinergic synapse;Long-term depression;Regulation of actin cytoskeleton;Insulin signaling pathway;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;Prion diseases;Influenza A;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Thyroid cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer;Uptake and function of anthrax toxins;Signal transduction by L1;RAF activation;MAP2K and MAPK activation;MAPK3 (ERK1) activation;Negative feedback regulation of MAPK pathway;MAP3K8 (TPL2)-dependent MAPK1/3 activation;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 15 +NX_Q02763 Angiopoietin-1 receptor 1124 125830 6.46 1 Cell membrane;Cell junction;Centriolar satellite;Focal adhesion;Secreted;Cytoskeleton Dominantly inherited venous malformations;Glaucoma 3, primary congenital, E Tyrosine-protein kinase that acts as cell-surface receptor for ANGPT1, ANGPT2 and ANGPT4 and regulates angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Has anti-inflammatory effects by preventing the leakage of proinflammatory plasma proteins and leukocytes from blood vessels. Required for normal angiogenesis and heart development during embryogenesis. Required for post-natal hematopoiesis. After birth, activates or inhibits angiogenesis, depending on the context. Inhibits angiogenesis and promotes vascular stability in quiescent vessels, where endothelial cells have tight contacts. In quiescent vessels, ANGPT1 oligomers recruit TEK to cell-cell contacts, forming complexes with TEK molecules from adjoining cells, and this leads to preferential activation of phosphatidylinositol 3-kinase and the AKT1 signaling cascades. In migrating endothelial cells that lack cell-cell adhesions, ANGT1 recruits TEK to contacts with the extracellular matrix, leading to the formation of focal adhesion complexes, activation of PTK2/FAK and of the downstream kinases MAPK1/ERK2 and MAPK3/ERK1, and ultimately to the stimulation of sprouting angiogenesis. ANGPT1 signaling triggers receptor dimerization and autophosphorylation at specific tyrosine residues that then serve as binding sites for scaffold proteins and effectors. Signaling is modulated by ANGPT2 that has lower affinity for TEK, can promote TEK autophosphorylation in the absence of ANGPT1, but inhibits ANGPT1-mediated signaling by competing for the same binding site. Signaling is also modulated by formation of heterodimers with TIE1, and by proteolytic processing that gives rise to a soluble TEK extracellular domain. The soluble extracellular domain modulates signaling by functioning as decoy receptor for angiopoietins. TEK phosphorylates DOK2, GRB7, GRB14, PIK3R1; SHC1 and TIE1. Ubiquitinated. The phosphorylated receptor is ubiquitinated and internalized, leading to its degradation.;Proteolytic processing leads to the shedding of the extracellular domain (soluble TIE-2 alias sTIE-2).;Autophosphorylated on tyrosine residues in response to ligand binding. Autophosphorylation occurs in trans, i.e. One subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Autophosphorylation occurs in a sequential manner, where Tyr-992 in the kinase activation loop is phosphorylated first, followed by autophosphorylation at Tyr-1108 and at additional tyrosine residues. ANGPT1-induced phosphorylation is impaired during hypoxia, due to increased expression of ANGPT2. Phosphorylation is important for interaction with GRB14, PIK3R1 and PTPN11. Phosphorylation at Tyr-1102 is important for interaction with SHC1, GRB2 and GRB7. Phosphorylation at Tyr-1108 is important for interaction with DOK2 and for coupling to downstream signal transduction pathways in endothelial cells. Dephosphorylated by PTPRB. Belongs to the protein kinase superfamily. Tyr protein kinase family. Tie subfamily. Rheumatoid arthritis;RAF/MAP kinase cascade;Tie2 Signaling PE1 9 +NX_Q02779 Mitogen-activated protein kinase kinase kinase 10 954 103694 6.56 0 Nucleoplasm;Cytosol;Cytoskeleton NA Activates the JUN N-terminal pathway. Autophosphorylation on serine and threonine residues within the activation loop plays a role in enzyme activation.;MAP3K10 is phosphorylated by MAPK9 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. NA PE1 19 +NX_Q02790 Peptidyl-prolyl cis-trans isomerase FKBP4 459 51805 5.35 0 Mitochondrion;Nucleoplasm;Cytosol;Axon;Nucleus;Cytoskeleton NA Immunophilin protein with PPIase and co-chaperone activities. Component of steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). May play a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors between cytoplasm and nuclear compartments. The isomerase activity controls neuronal growth cones via regulation of TRPC1 channel opening. Acts also as a regulator of microtubule dynamics by inhibiting MAPT/TAU ability to promote microtubule assembly. May have a protective role against oxidative stress in mitochondria. Phosphorylation by CK2 results in loss of HSP90 binding activity. NA Attenuation phase;HSP90 chaperone cycle for steroid hormone receptors (SHR);Estrogen-dependent gene expression;ESR-mediated signaling PE1 12 +NX_Q02809 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 727 83550 6.46 0 Cytoplasmic vesicle;Nucleoplasm;Rough endoplasmic reticulum membrane Ehlers-Danlos syndrome, kyphoscoliotic type, 1 Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils (By similarity). Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens (PubMed:8621606, PubMed:10686424, PubMed:15854030). These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (Probable). NA NA Lysine degradation;Collagen biosynthesis and modifying enzymes PE1 1 +NX_Q02817 Mucin-2 5179 540300 5.49 0 Secreted NA Coats the epithelia of the intestines, airways, and other mucus membrane-containing organs. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. Major constituent of both the inner and outer mucus layers of the colon and may play a role in excluding bacteria from the inner mucus layer. At low pH of 6 and under, undergoes autocatalytic cleavage in vitro in the N-terminal region of the fourth VWD domain. It is likely that this also occurs in vivo and is triggered by the low pH of the late secretory pathway.;May undergo proteolytic cleavage in the outer mucus layer of the colon, contributing to the expanded volume and loose nature of this layer which allows for bacterial colonization in contrast to the inner mucus layer which is dense and devoid of bacteria.;O-glycosylated. NA Vibrio cholerae infection;Amoebiasis;O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1) PE1 11 +NX_Q02818 Nucleobindin-1 461 53879 5.15 0 Golgi apparatus;Cytoplasm;cis-Golgi network membrane;Secreted;Cytoskeleton NA Major calcium-binding protein of the Golgi. May have a role in calcium homeostasis (By similarity). O-glycosylated. Belongs to the nucleobindin family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 19 +NX_Q02833 Ras association domain-containing protein 7 373 39945 5.5 0 Centriolar satellite;Centrosome NA Negatively regulates stress-induced JNK activation and apoptosis by promoting MAP2K7 phosphorylation and inhibiting its ability to activate JNK. Following prolonged stress, anti-apoptotic effect stops because of degradation of RASSF7 protein via the ubiquitin-proteasome pathway. Required for the activation of AURKB and chromosomal congression during mitosis where it stimulates microtubule polymerization. Polyubiquitinated and degraded by the proteasome upon prolonged stress stimuli. NA NA PE1 11 +NX_Q02846 Retinal guanylyl cyclase 1 1103 120059 7.15 1 Membrane Leber congenital amaurosis 1;Choroidal dystrophy, central areolar, 1;Cone-rod dystrophy 6 Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction. NA Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Olfactory transduction;Phototransduction;Inactivation, recovery and regulation of the phototransduction cascade PE1 17 +NX_Q02878 60S ribosomal protein L6 288 32728 10.59 0 Cytoplasm;Cytosol;Rough endoplasmic reticulum;Cytoskeleton NA (Microbial infection) Specifically binds to domain C of the Tax-responsive enhancer element in the long terminal repeat of HTLV-I (PubMed:8457378).;Component of the large ribosomal subunit. NA Belongs to the eukaryotic ribosomal protein eL6 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 12 +NX_Q02880 DNA topoisomerase 2-beta 1626 183267 8.14 0 Nucleoplasm;Cytoplasm;Nucleolus NA Control of topological states of DNA by transient breakage and subsequent rejoining of DNA strands. Topoisomerase II makes double-strand breaks. TOP2B is phosphorylated by PRKCZ (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the type II topoisomerase family. SUMOylation of DNA replication proteins PE1 3 +NX_Q02928 Cytochrome P450 4A11 519 59348 8.96 0 Microsome membrane;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of fatty acids and their oxygenated derivatives (oxylipins) (PubMed:7679927, PubMed:1739747, PubMed:8914854, PubMed:10553002, PubMed:10660572, PubMed:15611369). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:7679927, PubMed:1739747, PubMed:8914854, PubMed:10553002, PubMed:10660572, PubMed:15611369). Catalyzes predominantly the oxidation of the terminal carbon (omega-oxidation) of saturated and unsaturated fatty acids, the catalytic efficiency decreasing in the following order: dodecanoic > tetradecanoic > (9Z)-octadecenoic > (9Z,12Z)-octadecadienoic > hexadecanoic acid (PubMed:10553002, PubMed:10660572). Acts as a major omega-hydroxylase for dodecanoic (lauric) acid in liver (PubMed:7679927, PubMed:1739747, PubMed:8914854, PubMed:15611369). Participates in omega-hydroxylation of (5Z,8Z,11Z,14Z)-eicosatetraenoic acid (arachidonate) to 20-hydroxyeicosatetraenoic acid (20-HETE), a signaling molecule acting both as vasoconstrictive and natriuretic with overall effect on arterial blood pressure (PubMed:10620324, PubMed:10660572, PubMed:15611369). Can also catalyze the oxidation of the penultimate carbon (omega-1 oxidation) of fatty acids with lower efficiency (PubMed:7679927). May contribute to the degradation of saturated very long-chain fatty acids (VLCFAs) such as docosanoic acid, by catalyzing successive omega-oxidations to the corresponding dicarboxylic acid, thereby initiating chain shortening (PubMed:18182499). Omega-hydroxylates (9R,10S)-epoxy-octadecanoate stereoisomer (PubMed:15145985). Plays a minor role in omega-oxidation of long-chain 3-hydroxy fatty acids (PubMed:18065749). Has little activity toward prostaglandins A1 and E1 (PubMed:7679927). NA Belongs to the cytochrome P450 family. Lipid metabolism; arachidonate metabolism.;Lipid metabolism; oxylipin biosynthesis.;Fatty acid metabolism;Arachidonic acid metabolism;Retinol metabolism;Metabolic pathways;PPAR signaling pathway;Vascular smooth muscle contraction;Miscellaneous substrates;PPARA activates gene expression;Fatty acids;Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE);Eicosanoids;Synthesis of Leukotrienes (LT) and Eoxins (EX) PE1 1 +NX_Q02930 Cyclic AMP-responsive element-binding protein 5 508 56918 8.76 0 Nucleoplasm;Cell membrane;Nucleus;Cytoplasmic vesicle NA Binds to the cAMP response element and activates transcription. NA Belongs to the bZIP family. Cholinergic synapse;Dopaminergic synapse;Vasopressin-regulated water reabsorption;Huntington's disease;Prostate cancer PE1 7 +NX_Q02952 A-kinase anchor protein 12 1782 191482 4.37 0 Cytoplasm;Cell cortex;Cell membrane;Membrane;Cytosol;Cytoskeleton NA Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) and protein kinase C (PKC). NA NA NA PE1 6 +NX_Q02962 Paired box protein Pax-2 417 44706 7.25 0 Golgi apparatus;Nucleolus;Nucleus Focal segmental glomerulosclerosis 7;Papillorenal syndrome Transcription factor that may have a role in kidney cell differentiation (PubMed:24676634). Has a critical role in the development of the urogenital tract, the eyes, and the CNS. NA NA NA PE1 10 +NX_Q02978 Mitochondrial 2-oxoglutarate/malate carrier protein 314 34062 9.92 6 Mitochondrion inner membrane NA Catalyzes the transport of 2-oxoglutarate across the inner mitochondrial membrane in an electroneutral exchange for malate or other dicarboxylic acids, and plays an important role in several metabolic processes, including the malate-aspartate shuttle, the oxoglutarate/isocitrate shuttle, in gluconeogenesis from lactate, and in nitrogen metabolism (By similarity). Maintains mitochondrial fusion and fission events, and the organization and morphology of cristae (PubMed:21448454). Involved in the regulation of apoptosis (By similarity). NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Gluconeogenesis PE1 17 +NX_Q02985 Complement factor H-related protein 3 330 37323 7.72 0 Secreted Hemolytic uremic syndrome atypical 1 Might be involved in complement regulation. NA NA Regulation of Complement cascade PE1 1 +NX_Q03001 Dystonin 7570 860662 5.14 0 Cell cortex;Endoplasmic reticulum membrane;Cell membrane;H zone;Hemidesmosome;Membrane;Nucleoplasm;Stress fiber;Nucleus envelope;Cytosol;Axon;Z line;Nucleus;Cytoskeleton Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, 6 Required for bundling actin filaments around the nucleus.;Plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity.;Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport.;Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1 (By similarity). NA NA Assembly of collagen fibrils and other multimeric structures;Type I hemidesmosome assembly PE1 6 +NX_Q03013 Glutathione S-transferase Mu 4 218 25561 5.6 0 Cytoplasm NA Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Active on 1-chloro-2,4-dinitrobenzene. NA Belongs to the GST superfamily. Mu family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Glutathione conjugation;Biosynthesis of maresin conjugates in tissue regeneration (MCTR) PE1 1 +NX_Q03014 Hematopoietically-expressed homeobox protein HHEX 270 30022 6.72 0 Nucleoplasm;Mitochondrion;Nucleus NA Recognizes the DNA sequence 5'-ATTAA-3'. Transcriptional repressor. May play a role in hematopoietic differentiation. Establishes anterior identity at two levels; acts early to enhance canonical WNT-signaling by repressing expression of TLE4, and acts later to inhibit NODAL-signaling by directly targeting NODAL (By similarity). NA NA Maturity onset diabetes of the young PE1 10 +NX_Q03052 POU domain, class 3, transcription factor 1 451 45496 7.29 0 Nucleoplasm;Nucleus NA Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Thought to be involved in early embryogenesis and neurogenesis. NA Belongs to the POU transcription factor family. Class-3 subfamily. NA PE1 1 +NX_Q03060 cAMP-responsive element modulator 345 37006 5.4 0 Nucleoplasm;Cytoplasm;Nucleus;Cytoplasmic vesicle NA May play a role in the regulation of the circadian clock: acts as a transcriptional repressor of the core circadian component PER1 by directly binding to cAMP response elements in its promoter.;Transcriptional regulator that binds the cAMP response element (CRE), a sequence present in many viral and cellular promoters. Isoforms are either transcriptional activators or repressors. Plays a role in spermatogenesis and is involved in spermatid maturation (PubMed:10373550). Is ubiquitinated by CDC34 and RAD6B in order to be degraded by the proteasome.;Stimulated by phosphorylation. Phosphorylated on Ser-116 by TSSK4 in vitro.;CREM is phosphorylated by CAMK1D (Phosphoserine:PTM-0253) Belongs to the bZIP family. Circadian Clock PE1 10 +NX_Q03111 Protein ENL 559 62056 8.75 0 Nucleoplasm;Nucleus NA Component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. NA NA Formation of RNA Pol II elongation complex;RNA Polymerase II Pre-transcription Events;RNA Polymerase II Transcription Elongation PE1 19 +NX_Q03112 Histone-lysine N-methyltransferase MECOM 1230 138136 6 0 Cytoplasm;Nucleus speckle;Nucleus Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signaling. Involved in hematopoiesis.;Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. Probably catalyzes the monomethylation of free histone H3 in the cytoplasm which is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases use it as a substrate to catalyze histone H3 'Lys-9' trimethylation. Likely to be one of the primary histone methyltransferases along with PRDM16 that direct cytoplasmic H3K9me1 methylation. May be acetylated by CREBBP and KAT2B.;Phosphorylated. NA PKMTs methylate histone lysines;Regulation of PTEN gene transcription PE1 3 +NX_Q03113 Guanine nucleotide-binding protein subunit alpha-12 381 44279 9.84 0 Cytoplasm;Cytosol;Lateral cell membrane;Cell membrane NA Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems (PubMed:22609986, PubMed:15525651, PubMed:15240885, PubMed:17565996, PubMed:12515866, PubMed:16787920, PubMed:16705036, PubMed:23762476, PubMed:27084452). Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF12/LARG) (PubMed:15240885, PubMed:12515866, PubMed:16202387). GNA12-dependent Rho signaling subsequently regulates transcription factor AP-1 (activating protein-1) (By similarity). GNA12-dependent Rho signaling also regulates protein phosphatese 2A activation causing dephosphorylation of its target proteins (PubMed:15525651, PubMed:17565996). Promotes tumor cell invasion and metastasis by activating RhoA/ROCK signaling pathway and up-regulating proinflammatory cytokine production (PubMed:23762476, PubMed:16787920, PubMed:16705036, PubMed:27084452). Inhibits CDH1-mediated cell adhesion in process independent from Rho activation (PubMed:11976333, PubMed:16787920). Together with NAPA promotes CDH5 localization to plasma membrane (PubMed:15980433). May play a role in the control of cell migration through the TOR signaling cascade (PubMed:22609986). NA Belongs to the G-alpha family. G(12) subfamily. MAPK signaling pathway;Vascular smooth muscle contraction;Long-term depression;Regulation of actin cytoskeleton;G alpha (12/13) signalling events;Thrombin signalling through proteinase activated receptors (PARs) PE1 7 +NX_Q03135 Caveolin-1 178 20472 5.64 0 trans-Golgi network;Golgi apparatus;Cytoplasm;Cell membrane;Caveola;Golgi apparatus membrane;Membrane raft;Nucleus Congenital generalized lipodystrophy 3;Lipodystrophy, familial partial, 7;Pulmonary hypertension, primary, 3 May act as a scaffolding protein within caveolar membranes (PubMed:11751885). Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae (PubMed:19262564). Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner (PubMed:17287217). Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt pathway (By similarity). Negatively regulates TGFB1-mediated activation of SMAD2/3 by mediating the internalization of TGFBR1 from membrane rafts leading to its subsequent degradation (PubMed:25893292). Ubiquitinated. Undergo monoubiquitination and multi- and/or polyubiquitination (PubMed:21822278). Monoubiquitination of N-terminal lysines promotes integration in a ternary complex with UBXN6 and VCP which promotes oligomeric CAV1 targeting to lysosomes for degradation (PubMed:23335559).;The initiator methionine for isoform 2 is removed during or just after translation. The new N-terminal amino acid is then N-acetylated.;Phosphorylated at Tyr-14 by ABL1 in response to oxidative stress. Belongs to the caveolin family. Endocytosis;Focal adhesion;Bacterial invasion of epithelial cells;Viral myocarditis;VEGFR2 mediated vascular permeability;Triglyceride catabolism;Basigin interactions;Disassembly of the destruction complex and recruitment of AXIN to the membrane;eNOS activation;NOSTRIN mediated eNOS trafficking;Extra-nuclear estrogen signaling;FOXO-mediated transcription of cell cycle genes PE1 7 +NX_Q03154 Aminoacylase-1 408 45885 5.77 0 Cytoplasm Aminoacylase-1 deficiency Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate). NA Belongs to the peptidase M20A family. Arginine and proline metabolism;Metabolic pathways;Aflatoxin activation and detoxification;Defective ACY1 causes encephalopathy PE1 3 +NX_Q03164 Histone-lysine N-methyltransferase 2A 3969 431764 9.22 0 Nucleoplasm;Cytosol;Nucleus Wiedemann-Steiner syndrome Histone methyltransferase that plays an essential role in early development and hematopoiesis. Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac). In the MLL1/MLL complex, it specifically mediates H3K4me, a specific tag for epigenetic transcriptional activation (PubMed:12453419, PubMed:20677832, PubMed:26886794). Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity (PubMed:19187761, PubMed:26886794). Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9'. Binds to unmethylated CpG elements in the promoter of target genes and helps maintain them in the nonmethylated state (PubMed:20010842). Required for transcriptional activation of HOXA9 (PubMed:12453419, PubMed:20677832, PubMed:20010842). Promotes PPP1R15A-induced apoptosis. Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-ARNTL/BMAL1 heterodimer. Establishes a permissive chromatin state for circadian transcription by mediating a rhythmic methylation of 'Lys-4' of histone H3 (H3K4me) and this histone modification directs the circadian acetylation at H3K9 and H3K14 allowing the recruitment of CLOCK-ARNTL/BMAL1 to chromatin (By similarity). Proteolytic cleavage by TASP1 generates MLL cleavage product N320 and MLL cleavage product C180, which reassemble through a non-covalent association. 2 cleavage sites exist, cleavage site 1 (CS1) and cleavage site 2 (CS2), to generate MLL cleavage products N320 and C180. CS2 is the major site. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily. Lysine degradation;PKMTs methylate histone lysines;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Transcriptional regulation of granulopoiesis PE1 11 +NX_Q03167 Transforming growth factor beta receptor type 3 851 93499 5.45 1 Cell membrane;Cytosol;Secreted;Extracellular space NA Binds to TGF-beta. Could be involved in capturing and retaining TGF-beta for presentation to the signaling receptors. Extensively modified by glycosaminoglycan groups (GAG). NA NA PE1 1 +NX_Q03169 Tumor necrosis factor alpha-induced protein 2 654 72661 6.06 0 Golgi apparatus;Nucleoplasm;Nucleus membrane;Cytosol NA May play a role as a mediator of inflammation and angiogenesis. NA Belongs to the SEC6 family. NA PE1 14 +NX_Q03181 Peroxisome proliferator-activated receptor delta 441 49903 7.53 0 Nucleus NA Ligand-activated transcription factor. Receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Has a preference for poly-unsaturated fatty acids, such as gamma-linoleic acid and eicosapentanoic acid. Once activated by a ligand, the receptor binds to promoter elements of target genes. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the acyl-CoA oxidase gene. Decreases expression of NPC1L1 once activated by a ligand. NA Belongs to the nuclear hormone receptor family. NR1 subfamily. PPAR signaling pathway;Wnt signaling pathway;Pathways in cancer;Acute myeloid leukemia;Nuclear Receptor transcription pathway;Signaling by Retinoic Acid;Regulation of pyruvate dehydrogenase (PDH) complex;Import of palmitoyl-CoA into the mitochondrial matrix PE1 6 +NX_Q03188 Centromere protein C 943 106834 9.43 0 Nucleoplasm;Nucleus;Centromere;Kinetochore NA Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. CENPC recruits DNA methylation and DNMT3B to both centromeric and pericentromeric satellite repeats and regulates the histone code in these regions. NA Belongs to the CENP-C/MIF2 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Deposition of new CENPA-containing nucleosomes at the centromere;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 4 +NX_Q03252 Lamin-B2 620 69948 5.5 0 Nucleus inner membrane;Nucleus membrane Partial acquired lipodystrophy;Epilepsy, progressive myoclonic 9 Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. B-type lamins undergo a series of modifications, such as farnesylation and phosphorylation. Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations. Belongs to the intermediate filament family. NA PE1 19 +NX_Q03393 6-pyruvoyl tetrahydrobiopterin synthase 145 16386 6.2 0 Cytosol Hyperphenylalaninemia, BH4-deficient, A Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin. Phosphorylation of Ser-19 is required for maximal enzyme activity. Belongs to the PTPS family. Cofactor biosynthesis; tetrahydrobiopterin biosynthesis; tetrahydrobiopterin from 7,8-dihydroneopterin triphosphate: step 1/3.;Folate biosynthesis;Metabolic pathways;Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation PE1 11 +NX_Q03395 Rod outer segment membrane protein 1 351 37205 5.65 4 Photoreceptor inner segment membrane;Cytosol;Photoreceptor outer segment membrane;Cell membrane Retinitis pigmentosa 7 Plays a role in rod outer segment (ROS) morphogenesis (By similarity). May play a role with PRPH2 in the maintenance of the structure of ROS curved disks (By similarity). Plays a role in the organization of the ROS and maintenance of ROS disk diameter (By similarity). Involved in the maintenance of the retina outer nuclear layer (By similarity). NA Belongs to the PRPH2/ROM1 family. NA PE1 11 +NX_Q03403 Trefoil factor 2 129 14284 5.51 0 Secreted NA Inhibits gastrointestinal motility and gastric acid secretion. Could function as a structural component of gastric mucus, possibly by stabilizing glycoproteins in the mucus gel through interactions with carbohydrate side chains (By similarity). NA NA NA PE1 21 +NX_Q03405 Urokinase plasminogen activator surface receptor 335 36978 6.19 0 Secreted;Invadopodium membrane;Cell membrane NA Acts as a receptor for urokinase plasminogen activator. Plays a role in localizing and promoting plasmin formation. Mediates the proteolysis-independent signal transduction activation effects of U-PA. It is subject to negative-feedback regulation by U-PA which cleaves it into an inactive form. NA NA Complement and coagulation cascades;Attachment of GPI anchor to uPAR;Dissolution of Fibrin Clot;Neutrophil degranulation PE1 19 +NX_Q03426 Mevalonate kinase 396 42451 6.02 0 Cytoplasmic vesicle;Cytosol;Cytoplasm;Peroxisome Hyperimmunoglobulinemia D and periodic fever syndrome;Mevalonic aciduria;Porokeratosis 3, multiple types Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis (PubMed:9325256, PubMed:18302342). NA Belongs to the GHMP kinase family. Mevalonate kinase subfamily. Isoprenoid biosynthesis; isopentenyl diphosphate biosynthesis via mevalonate pathway; isopentenyl diphosphate from (R)-mevalonate: step 1/3.;Terpenoid backbone biosynthesis;Metabolic pathways;Peroxisome;Cholesterol biosynthesis;Activation of gene expression by SREBF (SREBP) PE1 12 +NX_Q03431 Parathyroid hormone/parathyroid hormone-related peptide receptor 593 66361 8.25 7 Cell membrane Enchondromatosis multiple;Metaphyseal chondrodysplasia, Jansen type;Primary failure of tooth eruption;Chondrodysplasia Blomstrand type;Eiken skeletal dysplasia Receptor for parathyroid hormone and for parathyroid hormone-related peptide. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. N-glycosylated. Belongs to the G-protein coupled receptor 2 family. Neuroactive ligand-receptor interaction;Endocrine and other factor-regulated calcium reabsorption;G alpha (s) signalling events;Class B/2 (Secretin family receptors) PE1 3 +NX_Q03468 DNA excision repair protein ERCC-6 1493 168416 8.28 0 Nucleus UV-sensitive syndrome 1;De Sanctis-Cacchione syndrome;Cerebro-oculo-facio-skeletal syndrome 1;Cockayne syndrome B;Macular degeneration, age-related, 5 Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes (PubMed:20541997, PubMed:26620705). Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA (PubMed:15548521). It is required for transcription-coupled repair complex formation (PubMed:16916636). It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the sites of RNA polymerase II-blocking lesions (PubMed:16916636). Plays an important role in regulating the choice of the DNA double-strand breaks (DSBs) repair pathway and G2/M checkpoint activation; DNA-dependent ATPase activity is essential for this function (PubMed:25820262). Regulates the DNA repair pathway choice by inhibiting non-homologous end joining (NHEJ), thereby promoting the homologous recombination (HR)-mediated repair of DSBs during the S/G2 phases of the cell cycle (PubMed:25820262). Mediates the activation of the ATM- and CHEK2-dependent DNA damage responses thus preventing premature entry of cells into mitosis following the induction of DNA DSBs (PubMed:25820262). Acts as a chromatin remodeler at DSBs; DNA-dependent ATPase-dependent activity is essential for this function. Remodels chromatin by evicting histones from chromatin flanking DSBs, limiting RIF1 accumulation at DSBs thereby promoting BRCA1-mediated HR (PubMed:29203878). Required for stable recruitment of ELOA and CUL5 to DNA damage sites (PubMed:28292928). Involved in UV-induced translocation of ERCC8 to the nuclear matrix (PubMed:26620705). Essential for neuronal differentiation and neuritogenesis; regulates transcription and chromatin remodeling activities required during neurogenesis (PubMed:24874740). Sumoylation at Lys-205 in an UV-radiation-dependent manner is essential for its transcription-coupled nucleotide excision repair activity.;Phosphorylated in a cell cycle-dependent manner at Ser-158 by cyclin A-CDK2 and at Ser-10 by ATM in response to DNA damage (PubMed:29203878). Phosphorylation at these two sites promotes the intramolecular interaction of the N-terminal domain with the helicase ATP-binding domain, thereby probably releasing the inhibitory effect of the N-terminal domain on its ATPase activity (PubMed:29203878). Phosphorylation is essential for its chromatin remodeling activity (PubMed:29203878).;Ubiquitinated at the C-terminus. Ubiquitination by the CSA complex leads to ERCC6 proteasomal degradation in a UV-dependent manner. Stabilized following interaction with KIAA1530/UVSSA, which promotes recruitment of deubiquitinating enzyme USP7, leading to deubiquitination of ERCC6 thereby preventing UV-induced degradation of ERCC6 by the proteasome. Belongs to the SNF2/RAD54 helicase family. Nucleotide excision repair;RNA Polymerase I Transcription Initiation;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression PE1 10 +NX_Q03518 Antigen peptide transporter 1 808 87218 8.24 10 Endoplasmic reticulum membrane;Endoplasmic reticulum;Centriolar satellite Bare lymphocyte syndrome 1 Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts as a tapasin inhibitor, preventing MHC class I/TAP association. Expression of TAP1 is down-regulated by human Epstein-Barr virus vIL-10 protein, thereby affecting the transport of peptides into the endoplasmic reticulum and subsequent peptide loading by MHC class I molecules. NA Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily. ABC transporters;Phagosome;Antigen processing and presentation;Herpes simplex infection;Primary immunodeficiency;ER-Phagosome pathway;Antigen Presentation: Folding, assembly and peptide loading of class I MHC PE1 6 +NX_Q03519 Antigen peptide transporter 2 686 75664 8.24 9 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus speckle Bare lymphocyte syndrome 1 Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts as a tapasin inhibitor, preventing MHC class I/TAP association. NA Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily. ABC transporters;Phagosome;Antigen processing and presentation;Herpes simplex infection;Primary immunodeficiency;ER-Phagosome pathway;Antigen Presentation: Folding, assembly and peptide loading of class I MHC PE1 6 +NX_Q03591 Complement factor H-related protein 1 330 37651 7.39 0 Secreted Hemolytic uremic syndrome atypical 1 Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism. N-glycosylated. Two forms are observed; one with a single side chain and the other with two. NA Regulation of Complement cascade PE1 1 +NX_Q03692 Collagen alpha-1(X) chain 680 66158 9.68 0 Endoplasmic reticulum;Extracellular matrix Schmid type metaphyseal chondrodysplasia Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. NA Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;Assembly of collagen fibrils and other multimeric structures;Non-integrin membrane-ECM interactions;Collagen chain trimerization PE1 6 +NX_Q03701 CCAAT/enhancer-binding protein zeta 1054 120974 5.65 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Stimulates transcription from the HSP70 promoter. NA Belongs to the CBF/MAK21 family. NA PE1 2 +NX_Q03721 Potassium voltage-gated channel subfamily C member 4 635 69767 6.56 6 Membrane;Cytosol;Nucleolus NA This protein mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. Phosphorylation of serine residues in the inactivation gate inhibits rapid channel closure. Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.4/KCNC4 sub-subfamily. Voltage gated Potassium channels PE1 1 +NX_Q03828 Homeobox even-skipped homolog protein 2 476 47800 9.12 0 Nucleus NA NA NA Belongs to the even-skipped homeobox family. NA PE2 2 +NX_Q03923 Zinc finger protein 85 595 68736 9.45 0 Nucleoplasm;Nucleus NA May be a transcriptional repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q03924 Zinc finger protein 117 483 56376 9.46 0 Nucleolus;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE2 7 +NX_Q03933 Heat shock factor protein 2 536 60348 4.7 0 Cytoplasm;Nucleoplasm;Nucleus NA DNA-binding protein that specifically binds heat shock promoter elements (HSE) and activates transcription. In higher eukaryotes, HSF is unable to bind to the HSE unless the cells are heat shocked. NA Belongs to the HSF family. NA PE1 6 +NX_Q03936 Zinc finger protein 92 586 68487 9.4 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_Q03938 Zinc finger protein 90 601 69058 9.36 0 Golgi apparatus;Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q03989 AT-rich interactive domain-containing protein 5A 594 64074 9.34 0 Nucleoplasm;Nucleolus;Nucleus NA Binds to AT-rich stretches in the modulator region upstream of the human cytomegalovirus major intermediate early gene enhancer. May act as repressor and down-regulate enhancer-dependent gene expressison (PubMed:8649988). May positively regulate chondrocyte-specific transcription such as of COL2A1 in collaboration with SOX9 and positively regulate histone H3 acetylation at chondrocyte-specific genes. May stimulate early-stage chondrocyte differentiation and inhibit later stage differention (By similarity). Can repress ESR1-mediated transcriptional activation; proposed to act as corepressor for selective nuclear hormone receptors (PubMed:15941852). As RNA-binding protein involved in the regulation of inflammatory response by stabilizing selective inflammation-related mRNAs, such as IL6, STAT3 and TBX21. Binds to stem loop structures located in the 3'UTRs of IL6, STAT3 and TBX21 mRNAs; at least for STAT3 prevents binding of ZC3H12A to the mRNA stem loop structure thus inhibiting its degradation activity. Contributes to elevated IL6 levels possibly implicated in autoimmunity processes. IL6-dependent stabilization of STAT3 mRNA may promote differentiation of naive CD4+ T-cells into T-helper Th17 cells. In CD4+ T-cells may also inhibit RORC-induced Th17 cell differentiation independently of IL6 signaling. Stabilization of TBX21 mRNA contributes to elevated interferon-gamma secretion in Th1 cells possibly implicated in the establishment of septic shock (By similarity). Phosphorylated by MAPK14 on serine residues involving a TLR4 signaling pathway upon lipopolysaccharide (LPS) stimulation leading to its ubiquitination and proteasomal degradation.;Ubiquitinated leading to proteasomal degradation; involving WWP1 linked to MAPK14-mediated phosphorylation upon LPS stimulation. NA NA PE1 2 +NX_Q04118 Basic salivary proline-rich protein 3 309 30980 10.8 0 Secreted NA Acts as a receptor for the Gram-negative bacterium F.nucleatum. Proteolytically cleaved at the tripeptide Xaa-Pro-Gln, where Xaa in the P(3) position is mostly lysine. The endoprotease may be of microbial origin. Besides on the N-terminal of mature PRB3, pyroglutamate formation found on at least Gln-67, Gln-88, Gln-214 and Gln-295.;N- and O-glycosylated; contains about 50% carbohydrate. This is composed of highly fucosylated N-linked saccharides, the major structure is a biantennary asialosaccharide containing 2 fucose residues on one antenna and an unsubstituted terminal lactosamine sequence on the other. The Gram-negative bacterium F.nucleatum binds to carbohydrates containing unsubstituted GalBeta1,4GlcNAc residues. N-glycosylation on Asn-87 is prevalent in head and neck cancer patients.;The Gl-8 variant contains an interchain disulfide bond with salivary peroxidase. NA NA PE1 12 +NX_Q04206 Transcription factor p65 551 60219 5.46 0 Cytoplasm;Cytosol;Nucleus Mucocutaneous ulceration, chronic NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The heterodimeric RELA-NFKB1 complex appears to be most abundant one. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. The NF-kappa-B heterodimeric RELA-NFKB1 and RELA-REL complexes, for instance, function as transcriptional activators. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. The inhibitory effect of I-kappa-B on NF-kappa-B through retention in the cytoplasm is exerted primarily through the interaction with RELA. RELA shows a weak DNA-binding site which could contribute directly to DNA binding in the NF-kappa-B complex. Beside its activity as a direct transcriptional activator, it is also able to modulate promoters accessibility to transcription factors and thereby indirectly regulate gene expression. Associates with chromatin at the NF-kappa-B promoter region via association with DDX1. Essential for cytokine gene expression in T-cells (PubMed:15790681). The NF-kappa-B homodimeric RELA-RELA complex appears to be involved in invasin-mediated activation of IL-8 expression. Phosphorylation at Ser-311 disrupts the interaction with EHMT1 and promotes transcription factor activity (By similarity). Phosphorylation on Ser-536 stimulates acetylation on Lys-310 and interaction with CBP; the phosphorylated and acetylated forms show enhanced transcriptional activity. Phosphorylation at Ser-276 by RPS6KA4 and RPS6KA5 promotes its transactivation and transcriptional activities.;Sumoylation by PIAS3 negatively regulates DNA-bound activated NF-kappa-B.;Sulfhydration at Cys-38 mediates the anti-apoptotic activity by promoting the interaction with RPS3 and activating the transcription factor activity.;Ubiquitinated by RNF182, leading to its proteasomal degradation. Degradation is required for termination of NF-kappa-B response.;S-nitrosylation of Cys-38 inactivates the enzyme activity.;Proteolytically cleaved within a conserved N-terminus region required for base-specific contact with DNA in a CPEN1-mediated manner, and hence inhibits NF-kappa-B transcriptional activity (PubMed:18212740).;Reversibly acetylated; the acetylation seems to be mediated by CBP, the deacetylation by HDAC3 and SIRT2. Acetylation at Lys-122 enhances DNA binding and impairs association with NFKBIA. Acetylation at Lys-310 is required for full transcriptional activity in the absence of effects on DNA binding and NFKBIA association. Acetylation at Lys-310 promotes interaction with BRD4. Acetylation can also lower DNA-binding and results in nuclear export. Interaction with BRMS1 promotes deacetylation of Lys-310. Lys-310 is deacetylated by SIRT2.;Monomethylated at Lys-310 by SETD6. Monomethylation at Lys-310 is recognized by the ANK repeats of EHMT1 and promotes the formation of repressed chromatin at target genes, leading to down-regulation of NF-kappa-B transcription factor activity. Phosphorylation at Ser-311 disrupts the interaction with EHMT1 without preventing monomethylation at Lys-310 and relieves the repression of target genes (By similarity). NA MAPK signaling pathway;Chemokine signaling pathway;Apoptosis;Osteoclast differentiation;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;T cell receptor signaling pathway;B cell receptor signaling pathway;Neurotrophin signaling pathway;Adipocytokine signaling pathway;Epithelial cell signaling in Helicobacter pylori infection;Shigellosis;Salmonella infection;Pertussis;Legionellosis;Leishmaniasis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Amoebiasis;Tuberculosis;Hepatitis C;Measles;Influenza A;HTLV-I infection;Herpes simplex infection;Pathways in cancer;Pancreatic cancer;Prostate cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Small cell lung cancer;Activation of NF-kappaB in B cells;FCERI mediated NF-kB activation;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;PKMTs methylate histone lysines;Downstream TCR signaling;The NLRP3 inflammasome;Senescence-Associated Secretory Phenotype (SASP);RIP-mediated NFkB activation via ZBP1;DEx/H-box helicases activate type I IFN and inflammatory cytokines production;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated NF-kB activation;Transcriptional regulation of white adipocyte differentiation;CLEC7A/inflammasome pathway;CD209 (DC-SIGN) signaling;IkBA variant leads to EDA-ID;Regulated proteolysis of p75NTR;NF-kB is activated and signals survival;Interleukin-1 processing;Interleukin-1 signaling;SUMOylation of immune response proteins PE1 11 +NX_Q04323 UBX domain-containing protein 1 297 33325 5.23 0 Nucleoplasm;Cytoplasm NA Ubiquitin-binding protein that plays a role in the modulation of innate immune response. Blocks both the RIG-I-like receptors (RLR) and NF-kappa-B pathways. Following viral infection, UBXN1 is induced and recruited to the RLR component MAVS. In turn, interferes with MAVS oligomerization, and disrupts the MAVS/TRAF3/TRAF6 signalosome. This function probably serves as a brake to prevent excessive RLR signaling (PubMed:23545497). Interferes with the TNFalpha-triggered NF-kappa-B pathway by interacting with cellular inhibitors of apoptosis proteins (cIAPs) and thereby inhibiting their recruitment to TNFR1 (PubMed:25681446). Prevents also the activation of NF-kappa-B by associating with CUL1 and thus inhibiting NF-kappa-B inhibitor alpha/NFKBIA degradation that remains bound to NF-kappa-B (PubMed:28152074). Interacts with the BRCA1-BARD1 heterodimer and regulates its activity. Specifically binds 'Lys-6'-linked polyubiquitin chains. Interaction with autoubiquitinated BRCA1 leads to the inhibition of the E3 ubiquitin-protein ligase activity of the BRCA1-BARD1 heterodimer (PubMed:20351172). Component of a complex required to couple deglycosylation and proteasome-mediated degradation of misfolded proteins in the endoplasmic reticulum that are retrotranslocated in the cytosol. NA NA N-glycan trimming in the ER and Calnexin/Calreticulin cycle PE1 11 +NX_Q04446 1,4-alpha-glucan-branching enzyme 702 80474 5.87 0 Nucleoplasm;Cytosol Glycogen storage disease 4;Polyglucosan body neuropathy, adult form Required for normal glycogen accumulation (PubMed:8463281, PubMed:26199317, PubMed:8613547). The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable). NA Belongs to the glycosyl hydrolase 13 family. GlgB subfamily. Glycan biosynthesis; glycogen biosynthesis.;Starch and sucrose metabolism;Metabolic pathways;Glycogen synthesis;Glycogen storage disease type IV (GBE1) PE1 3 +NX_Q04609 Glutamate carboxypeptidase 2 750 84331 6.5 1 Cytoplasm;Cell membrane NA Also exhibits a dipeptidyl-peptidase IV type activity. In vitro, cleaves Gly-Pro-AMC.;Has both folate hydrolase and N-acetylated-alpha-linked-acidic dipeptidase (NAALADase) activity. Has a preference for tri-alpha-glutamate peptides. In the intestine, required for the uptake of folate. In the brain, modulates excitatory neurotransmission through the hydrolysis of the neuropeptide, N-aceylaspartylglutamate (NAAG), thereby releasing glutamate. Involved in prostate tumor progression. The N-terminus is blocked.;The first two amino acids at the N-terminus of isoform PSMA' appear to be cleaved by limited proteolysis. Belongs to the peptidase M28 family. M28B subfamily. Vitamin digestion and absorption;Aspartate and asparagine metabolism PE1 11 +NX_Q04637 Eukaryotic translation initiation factor 4 gamma 1 1599 175491 5.25 0 Cytosol Parkinson disease 18 Component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome. Following infection by certain enteroviruses, rhinoviruses and aphthoviruses, EIF4G1 is cleaved by the viral protease 2A, or the leader protease in the case of aphthoviruses. This shuts down the capped cellular mRNA transcription.;Phosphorylated at multiple sites in vivo. Phosphorylation at Ser-1185 by PRKCA induces binding to MKNK1.;EIF4G1 is phosphorylated by MAPK3;EIF4G1 is phosphorylated by PAK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the eukaryotic initiation factor 4G family. RNA transport;Viral myocarditis;AUF1 (hnRNP D0) binds and destabilizes mRNA;ISG15 antiviral mechanism;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Deadenylation of mRNA;mTORC1-mediated signalling;Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S;Regulation of expression of SLITs and ROBOs PE1 3 +NX_Q04656 Copper-transporting ATPase 1 1500 163373 5.92 8 Golgi apparatus;Cell membrane;trans-Golgi network membrane;Endoplasmic reticulum;Cytoplasmic vesicle;Cytosol Menkes disease;Occipital horn syndrome;Distal spinal muscular atrophy, X-linked, 3 May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily. Mineral absorption;Ion transport by P-type ATPases;Detoxification of Reactive Oxygen Species;Ion influx/efflux at host-pathogen interface PE1 X +NX_Q04671 P protein 838 92850 6.84 12 Cytosol;Melanosome membrane;Cell membrane Albinism, oculocutaneous, 2 Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color. NA Belongs to the CitM (TC 2.A.11) transporter family. Melanin biosynthesis PE1 15 +NX_Q04695 Keratin, type I cytoskeletal 17 432 48106 4.97 0 Cytoplasm Pachyonychia congenita 2;Steatocystoma multiplex Type I keratin involved in the formation and maintenance of various skin appendages, specifically in determining shape and orientation of hair (By similarity). Required for the correct growth of hair follicles, in particular for the persistence of the anagen (growth) state (By similarity). Modulates the function of TNF-alpha in the specific context of hair cycling. Regulates protein synthesis and epithelial cell growth through binding to the adapter protein SFN and by stimulating Akt/mTOR pathway (By similarity). Involved in tissue repair. May be a marker of basal cell differentiation in complex epithelia and therefore indicative of a certain type of epithelial 'stem cells'. Acts as a promoter of epithelial proliferation by acting a regulator of immune response in skin: promotes Th1/Th17-dominated immune environment contributing to the development of basaloid skin tumors (By similarity). May act as an autoantigen in the immunopathogenesis of psoriasis, with certain peptide regions being a major target for autoreactive T-cells and hence causing their proliferation. Phosphorylation at Ser-44 occurs in a growth- and stress-dependent fashion in skin keratinocytes, it has no effect on filament organization. Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_Q04721 Neurogenic locus notch homolog protein 2 2471 265405 4.95 1 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane Hajdu-Cheney syndrome;Alagille syndrome 2 Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus (PubMed:21378985, PubMed:21378989). Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and positively regulates RANKL-induced osteoclast differentiation (PubMed:29149593). Positively regulates self-renewal of liver cancer cells (PubMed:25985737). Hydroxylated by HIF1AN.;Can be either O-glucosylated or O-xylosylated at Ser-613 by POGLUT1.;Phosphorylated by GSK3. GSK3-mediated phosphorylation is necessary for NOTCH2 recognition by FBXW7, ubiquitination and degradation via the ubiquitin proteasome pathway.;Synthesized in the endoplasmic reticulum as an inactive form which is proteolytically cleaved by a furin-like convertase in the trans-Golgi network before it reaches the plasma membrane to yield an active, ligand-accessible form (By similarity). Cleavage results in a C-terminal fragment N(TM) and a N-terminal fragment N(EC) (By similarity). Following ligand binding, it is cleaved by TNF-alpha converting enzyme (TACE) to yield a membrane-associated intermediate fragment called notch extracellular truncation (NEXT) (By similarity). This fragment is then cleaved by presenilin dependent gamma-secretase to release a notch-derived peptide containing the intracellular domain (NICD) from the membrane (By similarity). Belongs to the NOTCH family. Dorso-ventral axis formation;Notch signaling pathway;Pre-NOTCH Processing in the Endoplasmic Reticulum;Pre-NOTCH Transcription and Translation;Pre-NOTCH Processing in Golgi;Notch-HLH transcription pathway;NOTCH2 intracellular domain regulates transcription;NOTCH2 Activation and Transmission of Signal to the Nucleus;Defective LFNG causes SCDO3;NOTCH4 Intracellular Domain Regulates Transcription PE1 1 +NX_Q04724 Transducin-like enhancer protein 1 770 83201 6.79 0 Nucleoplasm;Nucleus NA Transcriptional corepressor that binds to a number of transcription factors. Inhibits NF-kappa-B-regulated gene expression. Inhibits the transcriptional activation mediated by FOXA2, and by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES. Unusual function as coactivator for ESRRG. Ubiquitinated by XIAP/BIRC4.;Phosphorylated, probably by CDK1. The degree of phosphorylation varies throughout the cell cycle, and is highest at the G2/M transition. Becomes hyperphosphorylated in response to cell differentiation and interaction with HES1 or RUNX1. Belongs to the WD repeat Groucho/TLE family. Formation of the beta-catenin:TCF transactivating complex;Deactivation of the beta-catenin transactivating complex;Repression of WNT target genes;NOTCH1 Intracellular Domain Regulates Transcription PE1 9 +NX_Q04725 Transducin-like enhancer protein 2 743 79841 6.16 0 Focal adhesion;Nucleus NA Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES (By similarity). Ubiquitinated by XIAP/BIRC4. Belongs to the WD repeat Groucho/TLE family. Formation of the beta-catenin:TCF transactivating complex;Deactivation of the beta-catenin transactivating complex;Repression of WNT target genes;NOTCH1 Intracellular Domain Regulates Transcription PE1 19 +NX_Q04726 Transducin-like enhancer protein 3 772 83417 6.72 0 Nucleoplasm;Nucleus NA Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES (By similarity). Ubiquitinated by XIAP/BIRC4. This ubiquitination does not affect its stability, nuclear localization, or capacity to tetramerize but inhibits its interaction with TCF7L2/TCF4. Belongs to the WD repeat Groucho/TLE family. Formation of the beta-catenin:TCF transactivating complex;Deactivation of the beta-catenin transactivating complex;Repression of WNT target genes;NOTCH1 Intracellular Domain Regulates Transcription;Estrogen-dependent gene expression PE1 15 +NX_Q04727 Transducin-like enhancer protein 4 773 83755 7.2 0 Nucleoplasm;Nucleus NA Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by PAX5, and by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES. Essential for the transcriptional repressor activity of SIX3 during retina and lens development and for SIX3 transcriptional auto-repression (By similarity). Ubiquitinated by XIAP/BIRC4.;Phosphorylated. PAX5 binding increases phosphorylation (By similarity). Belongs to the WD repeat Groucho/TLE family. Formation of the beta-catenin:TCF transactivating complex;Deactivation of the beta-catenin transactivating complex;Repression of WNT target genes;NOTCH1 Intracellular Domain Regulates Transcription PE1 9 +NX_Q04741 Homeobox protein EMX1 257 28039 9.85 0 Cytoplasm;Nucleus;Nucleolus NA Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous system. NA Belongs to the EMX homeobox family. NA PE1 2 +NX_Q04743 Homeobox protein EMX2 252 28303 9.83 0 Nucleoplasm;Nucleus Schizencephaly Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous system. NA Belongs to the EMX homeobox family. NA PE1 10 +NX_Q04756 Hepatocyte growth factor activator 655 70682 6.99 0 Secreted NA Activates hepatocyte growth factor (HGF) by converting it from a single chain to a heterodimeric form. NA Belongs to the peptidase S1 family. MET Receptor Activation PE1 4 +NX_Q04759 Protein kinase C theta type 706 81865 7.69 0 Cytoplasm;Centriolar satellite;Cell membrane NA Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that mediates non-redundant functions in T-cell receptor (TCR) signaling, including T-cells activation, proliferation, differentiation and survival, by mediating activation of multiple transcription factors such as NF-kappa-B, JUN, NFATC1 and NFATC2. In TCR-CD3/CD28-co-stimulated T-cells, is required for the activation of NF-kappa-B and JUN, which in turn are essential for IL2 production, and participates in the calcium-dependent NFATC1 and NFATC2 transactivation. Mediates the activation of the canonical NF-kappa-B pathway (NFKB1) by direct phosphorylation of CARD11 on several serine residues, inducing CARD11 association with lipid rafts and recruitment of the BCL10-MALT1 complex, which then activates IKK complex, resulting in nuclear translocation and activation of NFKB1. May also play an indirect role in activation of the non-canonical NF-kappa-B (NFKB2) pathway. In the signaling pathway leading to JUN activation, acts by phosphorylating the mediator STK39/SPAK and may not act through MAP kinases signaling. Plays a critical role in TCR/CD28-induced NFATC1 and NFATC2 transactivation by participating in the regulation of reduced inositol 1,4,5-trisphosphate generation and intracellular calcium mobilization. After costimulation of T-cells through CD28 can phosphorylate CBLB and is required for the ubiquitination and subsequent degradation of CBLB, which is a prerequisite for the activation of TCR. During T-cells differentiation, plays an important role in the development of T-helper 2 (Th2) cells following immune and inflammatory responses, and, in the development of inflammatory autoimmune diseases, is necessary for the activation of IL17-producing Th17 cells. May play a minor role in Th1 response. Upon TCR stimulation, mediates T-cell protective survival signal by phosphorylating BAD, thus protecting T-cells from BAD-induced apoptosis, and by up-regulating BCL-X(L)/BCL2L1 levels through NF-kappa-B and JUN pathways. In platelets, regulates signal transduction downstream of the ITGA2B, CD36/GP4, F2R/PAR1 and F2RL3/PAR4 receptors, playing a positive role in 'outside-in' signaling and granule secretion signal transduction. May relay signals from the activated ITGA2B receptor by regulating the uncoupling of WASP and WIPF1, thereby permitting the regulation of actin filament nucleation and branching activity of the Arp2/3 complex. May mediate inhibitory effects of free fatty acids on insulin signaling by phosphorylating IRS1, which in turn blocks IRS1 tyrosine phosphorylation and downstream activation of the PI3K/AKT pathway. Phosphorylates MSN (moesin) in the presence of phosphatidylglycerol or phosphatidylinositol. Phosphorylates PDPK1 at 'Ser-504' and 'Ser-532' and negatively regulates its ability to phosphorylate PKB/AKT1. Autophosphorylation at Thr-219 is required for targeting to the TCR and cellular function of PRKCQ upon antigen receptor ligation. Following TCR stimulation, phosphorylated at Tyr-90 and Ser-685.;PRKCQ is phosphorylated by FYN (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily. Vascular smooth muscle contraction;Tight junction;T cell receptor signaling pathway;Adipocytokine signaling pathway;Measles;FCERI mediated NF-kB activation;Downstream TCR signaling;Effects of PIP2 hydrolysis;Netrin-1 signaling;Inactivation, recovery and regulation of the phototransduction cascade;G alpha (z) signalling events;Apoptotic cleavage of cellular proteins;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 10 +NX_Q04760 Lactoylglutathione lyase 184 20778 5.12 0 Nucleoplasm;Cytosol;Cell membrane NA Catalyzes the conversion of hemimercaptal, formed from methylglyoxal and glutathione, to S-lactoylglutathione. Involved in the regulation of TNF-induced transcriptional activity of NF-kappa-B. Required for normal osteoclastogenesis. Glutathionylation at Cys-139 inhibits enzyme activity.;Phosphorylated at Thr-107 in the presence of CaMK2. However, this is a consensus site for phosphorylation by CK2 so phosphorylation may be mediated by CK2 rather than CaMK2. Phosphorylation is induced by TNF and suppresses the TNF-induced transcriptional activity of NF-kappa-B.;Exists in a nitric oxide (NO)-modified form. The exact nature of the modification is unknown, but it suppresses the TNF-induced transcriptional activity of NF-kappa-B. Belongs to the glyoxalase I family. Secondary metabolite metabolism; methylglyoxal degradation; (R)-lactate from methylglyoxal: step 1/2.;Pyruvate metabolism;Pyruvate metabolism PE1 6 +NX_Q04771 Activin receptor type-1 509 57153 7.12 1 Membrane;Cytosol;Nucleolus Fibrodysplasia ossificans progressiva On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis (By similarity). NA Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Cytokine-cytokine receptor interaction;TGF-beta signaling pathway PE1 2 +NX_Q04828 Aldo-keto reductase family 1 member C1 323 36788 8.02 0 Cytoplasm NA Converts progesterone to its inactive form, 20-alpha-dihydroxyprogesterone (20-alpha-OHP). In the liver and intestine, may have a role in the transport of bile. May have a role in monitoring the intrahepatic bile acid concentration. Has a low bile-binding ability. May play a role in myelin formation. NA Belongs to the aldo/keto reductase family. Steroid hormone biosynthesis;Metabolism of xenobiotics by cytochrome P450;Retinoid metabolism and transport;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 24-hydroxycholesterol;Synthesis of bile acids and bile salts via 27-hydroxycholesterol PE1 10 +NX_Q04837 Single-stranded DNA-binding protein, mitochondrial 148 17260 9.59 0 Mitochondrion;Mitochondrion nucleoid NA This protein binds preferentially and cooperatively to ss-DNA. Probably involved in mitochondrial DNA replication. Associates with mitochondrial DNA. NA NA DNA replication;Mismatch repair;Homologous recombination;Transcriptional activation of mitochondrial biogenesis PE1 7 +NX_Q04844 Acetylcholine receptor subunit epsilon 493 54697 5.15 4 Cell membrane;Postsynaptic cell membrane Myasthenic syndrome, congenital, 4B, fast-channel;Myasthenic syndrome, congenital, 4A, slow-channel;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Epsilon/CHRNE sub-subfamily. Neuroactive ligand-receptor interaction;Highly sodium permeable acetylcholine nicotinic receptors PE1 17 +NX_Q04864 Proto-oncogene c-Rel 619 68520 5.56 0 Nucleus NA Proto-oncogene that may play a role in differentiation and lymphopoiesis. NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. The NF-kappa-B heterodimer RELA/p65-c-Rel is a transcriptional activator. REL is phosphorylated by IKBKE NA Activation of NF-kappaB in B cells PE1 2 +NX_Q04900 Sialomucin core protein 24 197 20917 8.3 1 Cell membrane;Endosome membrane;Lysosome membrane;Secreted;Endoplasmic reticulum;Endosome Deafness, autosomal dominant, 66 Sialomucin that may play a key role in hematopoiesis by facilitating the adhesion of CD34(+) cells to the stroma and by negatively regulating CD34(+)CD38(lo/-) cell proliferation. Modulates the migration of umbilical cord blood CD133+ cells and this is mediated through the CXCL12/CXCR4 axis. May play an important role in prostate cancer metastasis and the infiltration of bone marrow by cancer cells. Promotes myogenesis by enhancing CXCR4-dependent cell motility. Positively regulates myoblast migration and promotes myoblast fusion into myotubes (By similarity). The motif Ser-Gly may serve as the site of attachment of a glycosaminoglycan side chain.;Highly N- and O-glycosylated; contains sialic acid. Belongs to the CD164 family. Lysosome PE1 6 +NX_Q04912 Macrophage-stimulating protein receptor 1400 152241 6.09 1 Membrane;Cytosol Nasopharyngeal carcinoma, 3 Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to MST1 ligand. Regulates many physiological processes including cell survival, migration and differentiation. Ligand binding at the cell surface induces autophosphorylation of RON on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1 or the adapter GAB1. Recruitment of these downstream effectors by RON leads to the activation of several signaling cascades including the RAS-ERK, PI3 kinase-AKT, or PLCgamma-PKC. RON signaling activates the wound healing response by promoting epithelial cell migration, proliferation as well as survival at the wound site. Plays also a role in the innate immune response by regulating the migration and phagocytic activity of macrophages. Alternatively, RON can also promote signals such as cell migration and proliferation in response to growth factors other than MST1 ligand. Proteolytic processing yields the two subunits.;Autophosphorylated in response to ligand binding on Tyr-1238 and Tyr-1239 in the kinase domain leading to further phosphorylation of Tyr-1353 and Tyr-1360 in the C-terminal multifunctional docking site.;Ubiquitinated. Ubiquitination by CBL regulates the receptor stability and activity through proteasomal degradation. Belongs to the protein kinase superfamily. Tyr protein kinase family. Signaling by MST1 PE1 3 +NX_Q04917 14-3-3 protein eta 246 28219 4.76 0 Cytoplasm NA Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1. Phosphorylated on Ser-59 by protein kinase C delta type catalytic subunit in a sphingosine-dependent fashion. Belongs to the 14-3-3 family. Cell cycle;Oocyte meiosis;Neurotrophin signaling pathway;Translocation of SLC2A4 (GLUT4) to the plasma membrane;TP53 Regulates Metabolic Genes;Activation of BAD and translocation to mitochondria;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;RHO GTPases activate PKNs PE1 22 +NX_Q04941 Proteolipid protein 2 152 16691 6.8 4 Membrane NA May play a role in cell differentiation in the intestinal epithelium. NA NA NA PE1 X +NX_Q05048 Cleavage stimulation factor subunit 1 431 48358 6.12 0 Nucleoplasm;Nucleus NA One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs (PubMed:10669729). May be responsible for the interaction of CSTF with other factors to form a stable complex on the pre-mRNA (PubMed:10669729). The N-terminus is blocked. NA mRNA surveillance pathway;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Processing of Intronless Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 20 +NX_Q05066 Sex-determining region Y protein 204 23884 9.55 0 Cytoplasm;Nucleus speckle;Nucleus 46,XY sex reversal 1;46,XX sex reversal 1 Transcriptional regulator that controls a genetic switch in male development. It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity). In male adult brain involved in the maintenance of motor functions of dopaminergic neurons (By similarity). Involved in different aspects of gene regulation including promoter activation or repression (By similarity). Promotes DNA bending. SRY HMG box recognizes DNA by partial intercalation in the minor groove. Also involved in pre-mRNA splicing. Binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3'. Phosphorylated on serine residues by PKA. Phosphorylation by PKA enhances its DNA-binding activity and stimulates transcription repression.;Acetylation of Lys-136 contributes to its nuclear localization and enhances its interaction with KPNB1. Deacetylated by HDAC3.;Poly-ADP-ribosylated by PARP1. ADP-ribosylation reduces its DNA-binding activity. Belongs to the SRY family. Deactivation of the beta-catenin transactivating complex PE1 Y +NX_Q05084 Islet cell autoantigen 1 483 54645 5.55 0 Cytoplasm;Synaptic vesicle membrane;Secretory vesicle membrane;Golgi apparatus membrane;Cytoplasmic vesicle;Cytosol NA May play a role in neurotransmitter secretion. NA NA Type I diabetes mellitus PE1 7 +NX_Q05086 Ubiquitin-protein ligase E3A 875 100688 5.12 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus Angelman syndrome (Microbial infection) Catalyzes the high-risk human papilloma virus E6-mediated ubiquitination of p53/TP53, contributing to the neoplastic progression of cells infected by these viruses.;E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and transfers it to its substrates (PubMed:10373495, PubMed:16772533, PubMed:19204938, PubMed:19233847, PubMed:19325566, PubMed:19591933, PubMed:22645313, PubMed:24273172, PubMed:24728990). Several substrates have been identified including the ARNTL/BMAL1, ARC, RAD23A and RAD23B, MCM7 (which is involved in DNA replication), annexin A1, the PML tumor suppressor, and the cell cycle regulator CDKN1B (PubMed:10373495, PubMed:19204938, PubMed:19325566, PubMed:19591933, PubMed:22645313, PubMed:24728990). Additionally, may function as a cellular quality control ubiquitin ligase by helping the degradation of the cytoplasmic misfolded proteins (PubMed:19233847). Finally, UBE3A also promotes its own degradation in vivo. Plays an important role in the regulation of the circadian clock: involved in the ubiquitination of the core clock component ARNTL/BMAL1, leading to its proteasomal degradation (PubMed:24728990). Acts as transcriptional coactivator of progesterone receptor PGR upon progesterone hormone activation (PubMed:16772533). Acts as a regulator of synaptic development by mediating ubiquitination and degradation of ARC (By similarity). Synergizes with WBP2 in enhancing PGR activity (PubMed:16772533). Phosphorylation at Tyr-659 by ABL1 impairs E3 ligase activity and protects p53/TP53 from degradation in (HPV)-infected cells. NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation PE1 15 +NX_Q05193 Dynamin-1 864 97408 6.73 0 Cytoplasm;Nucleoplasm;Cytoskeleton Epileptic encephalopathy, early infantile, 31 Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes. Involved in receptor-mediated endocytosis. DNM1 is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. Endocytosis;Fc gamma R-mediated phagocytosis;Synaptic vesicle cycle;Endocrine and other factor-regulated calcium reabsorption;Bacterial invasion of epithelial cells;MHC class II antigen presentation;EPH-ephrin mediated repulsion of cells;Toll Like Receptor 4 (TLR4) Cascade;Retrograde neurotrophin signalling;Recycling pathway of L1;Gap junction degradation;Formation of annular gap junctions;Clathrin-mediated endocytosis PE1 9 +NX_Q05195 Max dimerization protein 1 221 25254 8.68 0 Nucleoplasm;Cytosol;Mitochondrion;Nucleus NA Transcriptional repressor. MAD binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MAD thus antagonizes MYC transcriptional activity by competing for MAX. Ubiquitinated by BIRC2/c-IAP1, leading to its subsequent degradation by the proteasome. NA NA PE1 2 +NX_Q05209 Tyrosine-protein phosphatase non-receptor type 12 780 88106 5.4 0 Cytoplasm;Cell membrane;Podosome;Focal adhesion;Cytosol NA Dephosphorylates a range of proteins, and thereby regulates cellular signaling cascades (PubMed:18559503). Dephosphorylates cellular tyrosine kinases, such as ERBB2 and PTK2B/PYK2, and thereby regulates signaling via ERBB2 and PTK2B/PYK2 (PubMed:17329398, PubMed:27134172). Selectively dephosphorylates ERBB2 phosphorylated at 'Tyr-1112', 'Tyr-1196', and/or 'Tyr-1248' (PubMed:27134172). Phosphorylated by STK24/MST3 and this results in inhibition of its activity.;PTPN12 is phosphorylated by STK24 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein-tyrosine phosphatase family. Non-receptor class 4 subfamily. Signaling by PDGF;EGFR downregulation;SHC1 events in ERBB2 signaling;Downregulation of ERBB2 signaling;Interleukin-37 signaling PE1 7 +NX_Q05215 Early growth response protein 4 589 61623 8.74 0 Nucleus NA Transcriptional regulator. Recognizes and binds to the DNA sequence 5'-GCGGGGGCG-3' (GSG). Activates the transcription of target genes whose products are required for mitogenesis and differentiation (By similarity). NA Belongs to the EGR C2H2-type zinc-finger protein family. NA PE2 2 +NX_Q05315 Galectin-10 142 16453 6.83 0 Cytosol;Cytoplasmic granule NA Regulates immune responses through the recognition of cell-surface glycans. Essential for the anergy and suppressive function of CD25-positive regulatory T-cells (Treg). NA NA NA PE1 19 +NX_Q05329 Glutamate decarboxylase 2 585 65411 6.45 0 Cytoplasmic vesicle;Cytosol;Presynaptic cell membrane;Golgi apparatus membrane NA Catalyzes the production of GABA. Palmitoylated; which is required for presynaptic clustering.;Phosphorylated; which does not affect kinetic parameters or subcellular location. Belongs to the group II decarboxylase family. Alanine, aspartate and glutamate metabolism;beta-Alanine metabolism;Taurine and hypotaurine metabolism;Butanoate metabolism;Metabolic pathways;GABAergic synapse;Type I diabetes mellitus;GABA synthesis;GABA synthesis, release, reuptake and degradation;MECP2 regulates transcription of genes involved in GABA signaling PE1 10 +NX_Q05397 Focal adhesion kinase 1 1052 119233 6.19 0 Cell cortex;Cell membrane;Focal adhesion;Centrosome;Cytoplasmic vesicle;Cytosol;Nucleus;Cytoskeleton NA (FRNK) does not contain a kinase domain and inhibits PTK2/FAK1 phosphorylation and signaling. Its enhanced expression can attenuate the nuclear accumulation of LPXN and limit its ability to enhance serum response factor (SRF)-dependent gene transcription.;Non-receptor protein-tyrosine kinase that plays an essential role in regulating cell migration, adhesion, spreading, reorganization of the actin cytoskeleton, formation and disassembly of focal adhesions and cell protrusions, cell cycle progression, cell proliferation and apoptosis. Required for early embryonic development and placenta development. Required for embryonic angiogenesis, normal cardiomyocyte migration and proliferation, and normal heart development. Regulates axon growth and neuronal cell migration, axon branching and synapse formation; required for normal development of the nervous system. Plays a role in osteogenesis and differentiation of osteoblasts. Functions in integrin signal transduction, but also in signaling downstream of numerous growth factor receptors, G-protein coupled receptors (GPCR), EPHA2, netrin receptors and LDL receptors. Forms multisubunit signaling complexes with SRC and SRC family members upon activation; this leads to the phosphorylation of additional tyrosine residues, creating binding sites for scaffold proteins, effectors and substrates. Regulates numerous signaling pathways. Promotes activation of phosphatidylinositol 3-kinase and the AKT1 signaling cascade. Promotes activation of MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling cascade. Promotes localized and transient activation of guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs), and thereby modulates the activity of Rho family GTPases. Signaling via CAS family members mediates activation of RAC1. Recruits the ubiquitin ligase MDM2 to P53/TP53 in the nucleus, and thereby regulates P53/TP53 activity, P53/TP53 ubiquitination and proteasomal degradation. Phosphorylates SRC; this increases SRC kinase activity. Phosphorylates ACTN1, ARHGEF7, GRB7, RET and WASL. Promotes phosphorylation of PXN and STAT1; most likely PXN and STAT1 are phosphorylated by a SRC family kinase that is recruited to autophosphorylated PTK2/FAK1, rather than by PTK2/FAK1 itself. Promotes phosphorylation of BCAR1; GIT2 and SHC1; this requires both SRC and PTK2/FAK1. Promotes phosphorylation of BMX and PIK3R1. Sumoylated; this enhances autophosphorylation.;Phosphorylated on tyrosine residues upon activation, e.g. Upon integrin signaling. Tyr-397 is the major autophosphorylation site, but other kinases can also phosphorylate this residue. Phosphorylation at Tyr-397 promotes interaction with SRC and SRC family members, leading to phosphorylation at Tyr-576, Tyr-577 and at additional tyrosine residues. FGR promotes phosphorylation at Tyr-397 and Tyr-576. FER promotes phosphorylation at Tyr-577, Tyr-861 and Tyr-925, even when cells are not adherent. Tyr-397, Tyr-576 and Ser-722 are phosphorylated only when cells are adherent. Phosphorylation at Tyr-397 is important for interaction with BMX, PIK3R1 and SHC1. Phosphorylation at Tyr-925 is important for interaction with GRB2. Dephosphorylated by PTPN11; PTPN11 is recruited to PTK2 via EPHA2 (tyrosine phosphorylated). Microtubule-induced dephosphorylation at Tyr-397 is crucial for the induction of focal adhesion disassembly; this dephosphorylation could be catalyzed by PTPN11 and regulated by ZFYVE21. Phosphorylation on tyrosine residues is enhanced by NTN1 (By similarity).;PTK2 is phosphorylated by EPHA1 Belongs to the protein kinase superfamily. Tyr protein kinase family. FAK subfamily. ErbB signaling pathway;Chemokine signaling pathway;Axon guidance;VEGF signaling pathway;Focal adhesion;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Amoebiasis;Pathways in cancer;Small cell lung cancer;RAF/MAP kinase cascade;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;EPHB-mediated forward signaling;VEGFA-VEGFR2 Pathway;Apoptotic cleavage of cellular proteins;Signal regulatory protein family interactions;NCAM signaling for neurite out-growth;DCC mediated attractive signaling;Integrin alphaIIb beta3 signaling;GRB2:SOS provides linkage to MAPK signaling for Integrins;p130Cas linkage to MAPK signaling for integrins;MET activates PTK2 signaling;Extra-nuclear estrogen signaling;Estrogen-dependent nuclear events downstream of ESR-membrane signaling PE1 8 +NX_Q05469 Hormone-sensitive lipase 1076 116598 6.25 0 Cytosol;Caveola;Cell membrane Lipodystrophy, familial partial, 6 In adipose tissue and heart, it primarily hydrolyzes stored triglycerides to free fatty acids, while in steroidogenic tissues, it principally converts cholesteryl esters to free cholesterol for steroid hormone production. Phosphorylation by AMPK may block translocation to lipid droplets. Belongs to the 'GDXG' lipolytic enzyme family. Glycerolipid metabolism; triacylglycerol degradation.;Insulin signaling pathway;Triglyceride catabolism PE1 19 +NX_Q05481 Zinc finger protein 91 1191 137217 9.45 0 Nucleus NA Transcription factor specifically required to repress SINE-VNTR-Alu (SVA) retrotransposons: recognizes and binds SVA sequences and represses their expression by recruiting a repressive complex containing TRIM28/KAP1 (PubMed:25274305). May also bind the promoter of the FCGR2B gene, leading to repress its expression; however, additional evidence is required to confirm this result in vivo (PubMed:11470777). NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q05513 Protein kinase C zeta type 592 67660 5.49 0 Cytoplasm;Cell membrane;Cell junction;Membrane;Endosome;Cytosol NA Involved in late synaptic long term potention phase in CA1 hippocampal cells and long term memory maintenance.;Calcium- and diacylglycerol-independent serine/threonine-protein kinase that functions in phosphatidylinositol 3-kinase (PI3K) pathway and mitogen-activated protein (MAP) kinase cascade, and is involved in NF-kappa-B activation, mitogenic signaling, cell proliferation, cell polarity, inflammatory response and maintenance of long-term potentiation (LTP). Upon lipopolysaccharide (LPS) treatment in macrophages, or following mitogenic stimuli, functions downstream of PI3K to activate MAP2K1/MEK1-MAPK1/ERK2 signaling cascade independently of RAF1 activation. Required for insulin-dependent activation of AKT3, but may function as an adapter rather than a direct activator. Upon insulin treatment may act as a downstream effector of PI3K and contribute to the activation of translocation of the glucose transporter SLC2A4/GLUT4 and subsequent glucose transport in adipocytes. In EGF-induced cells, binds and activates MAP2K5/MEK5-MAPK7/ERK5 independently of its kinase activity and can activate JUN promoter through MEF2C. Through binding with SQSTM1/p62, functions in interleukin-1 signaling and activation of NF-kappa-B with the specific adapters RIPK1 and TRAF6. Participates in TNF-dependent transactivation of NF-kappa-B by phosphorylating and activating IKBKB kinase, which in turn leads to the degradation of NF-kappa-B inhibitors. In migrating astrocytes, forms a cytoplasmic complex with PARD6A and is recruited by CDC42 to function in the establishment of cell polarity along with the microtubule motor and dynein. In association with FEZ1, stimulates neuronal differentiation in PC12 cells. In the inflammatory response, is required for the T-helper 2 (Th2) differentiation process, including interleukin production, efficient activation of JAK1 and the subsequent phosphorylation and nuclear translocation of STAT6. May be involved in development of allergic airway inflammation (asthma), a process dependent on Th2 immune response. In the NF-kappa-B-mediated inflammatory response, can relieve SETD6-dependent repression of NF-kappa-B target genes by phosphorylating the RELA subunit at 'Ser-311'. In vein endothelial cells treated with the oxidant peroxynitrite, phosphorylates STK11 leading to nuclear export of STK11, subsequent inhibition of PI3K/Akt signaling, and increased apoptosis. Phosphorylates VAMP2 in vitro (PubMed:17313651). CDH5 is required for its phosphorylation at Thr-410. Phosphorylated by protein kinase PDPK1; phosphorylation is inhibited by the apoptotic C-terminal cleavage product of PKN2. Phosphorylation at Thr-410 by PI3K activates the kinase.;PRKCZ is phosphorylated by PRKCQ (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);PRKCZ is phosphorylated by PAK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily. Chemokine signaling pathway;Endocytosis;Tight junction;Insulin signaling pathway;Type II diabetes mellitus;TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition);GPVI-mediated activation cascade;VEGFR2 mediated cell proliferation;RHO GTPases Activate NADPH Oxidases;Estrogen-stimulated signaling through PRKCZ PE1 1 +NX_Q05516 Zinc finger and BTB domain-containing protein 16 673 74274 6.02 0 Nuclear body;Nucleus Skeletal defects, genital hypoplasia, and mental retardation Acts as a transcriptional repressor (PubMed:24359566). May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312). NA Belongs to the krueppel C2H2-type zinc-finger protein family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 11 +NX_Q05519 Serine/arginine-rich splicing factor 11 484 53542 10.52 0 Nucleus speckle;Nucleus NA May function in pre-mRNA splicing. NA Belongs to the splicing factor SR family. Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 1 +NX_Q05586 Glutamate receptor ionotropic, NMDA 1 938 105373 9.03 3 Postsynaptic cell membrane;Postsynaptic density;Cell membrane Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:7685113, PubMed:28126851, PubMed:26919761, PubMed:26875626, PubMed:28105280). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:26919761). NMDA is probably regulated by C-terminal phosphorylation of an isoform of NR1 by PKC. Dephosphorylated on Ser-897 probably by protein phosphatase 2A (PPP2CB). Its phosphorylated state is influenced by the formation of the NMDAR-PPP2CB complex and the NMDAR channel activity.;GRIN1 is phosphorylated by EPHB2 (Phosphotyrosine:PTM-0255) Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR1/GRIN1 subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Long-term potentiation;Glutamatergic synapse;Alzheimer's disease;Amyotrophic lateral sclerosis (ALS);Huntington's disease;RAF/MAP kinase cascade;EPHB-mediated forward signaling;Unblocking of NMDA receptors, glutamate binding and activation;Ras activation upon Ca2+ influx through NMDA receptor;Synaptic adhesion-like molecules;Neurexins and neuroligins;Assembly and cell surface presentation of NMDA receptors;Negative regulation of NMDA receptor-mediated neuronal transmission;Long-term potentiation PE1 9 +NX_Q05639 Elongation factor 1-alpha 2 463 50470 9.11 0 Nucleus Mental retardation, autosomal dominant 38;Epileptic encephalopathy, early infantile, 33 This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. Trimethylated at Lys-165 by EEF1AKMT3 (PubMed:28108655). Mono-, di-, and trimethylated at Lys-36 by EEF1AKMT4; trimethylated form is predominant. Methylation by EEF1AKMT4 contributes to the fine-tuning of translation rates for a subset of tRNAs (PubMed:28520920). Trimethylated at the N-terminus by EEF1AKNMT (PubMed:30143613). Mono- and dimethylated at Lys-55 by EEF1AKNMT; dimethylated form is predominant (PubMed:30143613, PubMed:30612740). Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily. RNA transport;Legionellosis;Eukaryotic Translation Elongation PE1 20 +NX_Q05655 Protein kinase C delta type 676 77505 7.93 0 Golgi apparatus;Cytoplasm;Cell membrane;Endoplasmic reticulum;Cytosol;Perinuclear region;Nucleus Autoimmune lymphoproliferative syndrome 3 Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays contrasting roles in cell death and cell survival by functioning as a pro-apoptotic protein during DNA damage-induced apoptosis, but acting as an anti-apoptotic protein during cytokine receptor-initiated cell death, is involved in tumor suppression as well as survival of several cancers, is required for oxygen radical production by NADPH oxidase and acts as positive or negative regulator in platelet functional responses. Negatively regulates B cell proliferation and also has an important function in self-antigen induced B cell tolerance induction. Upon DNA damage, activates the promoter of the death-promoting transcription factor BCLAF1/Btf to trigger BCLAF1-mediated p53/TP53 gene transcription and apoptosis. In response to oxidative stress, interact with and activate CHUK/IKKA in the nucleus, causing the phosphorylation of p53/TP53. In the case of ER stress or DNA damage-induced apoptosis, can form a complex with the tyrosine-protein kinase ABL1 which trigger apoptosis independently of p53/TP53. In cytosol can trigger apoptosis by activating MAPK11 or MAPK14, inhibiting AKT1 and decreasing the level of X-linked inhibitor of apoptosis protein (XIAP), whereas in nucleus induces apoptosis via the activation of MAPK8 or MAPK9. Upon ionizing radiation treatment, is required for the activation of the apoptosis regulators BAX and BAK, which trigger the mitochondrial cell death pathway. Can phosphorylate MCL1 and target it for degradation which is sufficient to trigger for BAX activation and apoptosis. Is required for the control of cell cycle progression both at G1/S and G2/M phases. Mediates phorbol 12-myristate 13-acetate (PMA)-induced inhibition of cell cycle progression at G1/S phase by up-regulating the CDK inhibitor CDKN1A/p21 and inhibiting the cyclin CCNA2 promoter activity. In response to UV irradiation can phosphorylate CDK1, which is important for the G2/M DNA damage checkpoint activation. Can protect glioma cells from the apoptosis induced by TNFSF10/TRAIL, probably by inducing increased phosphorylation and subsequent activation of AKT1. Is highly expressed in a number of cancer cells and promotes cell survival and resistance against chemotherapeutic drugs by inducing cyclin D1 (CCND1) and hyperphosphorylation of RB1, and via several pro-survival pathways, including NF-kappa-B, AKT1 and MAPK1/3 (ERK1/2). Can also act as tumor suppressor upon mitogenic stimulation with PMA or TPA. In N-formyl-methionyl-leucyl-phenylalanine (fMLP)-treated cells, is required for NCF1 (p47-phox) phosphorylation and activation of NADPH oxidase activity, and regulates TNF-elicited superoxide anion production in neutrophils, by direct phosphorylation and activation of NCF1 or indirectly through MAPK1/3 (ERK1/2) signaling pathways. May also play a role in the regulation of NADPH oxidase activity in eosinophil after stimulation with IL5, leukotriene B4 or PMA. In collagen-induced platelet aggregation, acts a negative regulator of filopodia formation and actin polymerization by interacting with and negatively regulating VASP phosphorylation. Downstream of PAR1, PAR4 and CD36/GP4 receptors, regulates differentially platelet dense granule secretion; acts as a positive regulator in PAR-mediated granule secretion, whereas it negatively regulates CD36/GP4-mediated granule release. Phosphorylates MUC1 in the C-terminal and regulates the interaction between MUC1 and beta-catenin. The catalytic subunit phosphorylates 14-3-3 proteins (YWHAB, YWHAZ and YWHAH) in a sphingosine-dependent fashion (By similarity). Phosphorylates ELAVL1 in response to angiotensin-2 treatment (PubMed:18285462). Proteolytically cleaved into a catalytic subunit and a regulatory subunit by caspase-3 during apoptosis which results in kinase activation.;Autophosphorylated and/or phosphorylated at Thr-507, within the activation loop; phosphorylation at Thr-507 is not a prerequisite for enzymatic activity. Autophosphorylated at Ser-299, Ser-302 and Ser-304. Upon TNFSF10/TRAIL treatment, phosphorylated at Tyr-155; phosphorylation is required for its translocation to the endoplasmic reticulum and cleavage by caspase-3. Phosphorylated at Tyr-313, Tyr-334 and Tyr-567; phosphorylation of Tyr-313 and Tyr-567 following thrombin stimulation potentiates its kinase activity. Phosphorylated by protein kinase PDPK1; phosphorylation is inhibited by the apoptotic C-terminal cleavage product of PKN2. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily. Chemokine signaling pathway;Vascular smooth muscle contraction;Tight junction;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Neurotrophin signaling pathway;GnRH signaling pathway;Type II diabetes mellitus;CLEC7A (Dectin-1) signaling;Interferon gamma signaling;Effects of PIP2 hydrolysis;SHC1 events in ERBB2 signaling;G alpha (z) signalling events;Apoptotic cleavage of cellular proteins;Role of phospholipids in phagocytosis;VEGFR2 mediated cell proliferation;HuR (ELAVL1) binds and stabilizes mRNA;RHO GTPases Activate NADPH Oxidases;Calmodulin induced events;DAG and IP3 signaling;Neutrophil degranulation PE1 3 +NX_Q05682 Caldesmon 793 93231 5.62 0 Cell membrane;Stress fiber;Myofibril;Cytoskeleton NA Actin- and myosin-binding protein implicated in the regulation of actomyosin interactions in smooth muscle and nonmuscle cells (could act as a bridge between myosin and actin filaments). Stimulates actin binding of tropomyosin which increases the stabilization of actin filament structure. In muscle tissues, inhibits the actomyosin ATPase by binding to F-actin. This inhibition is attenuated by calcium-calmodulin and is potentiated by tropomyosin. Interacts with actin, myosin, two molecules of tropomyosin and with calmodulin. Also plays an essential role during cellular mitosis and receptor capping. Involved in Schwann cell migration during peripheral nerve regeneration (By similarity). In non-muscle cells, phosphorylation by CDK1 during mitosis causes caldesmon to dissociate from microfilaments. Phosphorylation reduces caldesmon binding to actin, myosin, and calmodulin as well as its inhibition of actomyosin ATPase activity. Phosphorylation also occurs in both quiescent and dividing smooth muscle cells with similar effects on the interaction with actin and calmodulin and on microfilaments reorganization. CDK1-mediated phosphorylation promotes Schwann cell migration during peripheral nerve regeneration (By similarity). Belongs to the caldesmon family. Vascular smooth muscle contraction;Smooth Muscle Contraction PE1 7 +NX_Q05707 Collagen alpha-1(XIV) chain 1796 193515 5.16 0 Cytoplasmic vesicle;Extracellular matrix NA Plays an adhesive role by integrating collagen bundles. It is probably associated with the surface of interstitial collagen fibrils via COL1. The COL2 domain may then serve as a rigid arm which sticks out from the fibril and protrudes the large N-terminal globular domain into the extracellular space, where it might interact with other matrix molecules or cell surface receptors (By similarity). Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.;May contain numerous cysteine residues involved in inter- and intramolecular disulfide bonding.;Lysines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in all cases and bind carbohydrates. Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. Protein digestion and absorption;Collagen degradation;Collagen biosynthesis and modifying enzymes;Assembly of collagen fibrils and other multimeric structures;Collagen chain trimerization PE1 8 +NX_Q05823 2-5A-dependent ribonuclease 741 83533 6.2 0 Cytoplasm;Cytosol;Mitochondrion Prostate cancer, hereditary, 1 Endoribonuclease that functions in the interferon (IFN) antiviral response. In INF treated and virus infected cells, RNASEL probably mediates its antiviral effects through a combination of direct cleavage of single-stranded viral RNAs, inhibition of protein synthesis through the degradation of rRNA, induction of apoptosis, and induction of other antiviral genes. RNASEL mediated apoptosis is the result of a JNK-dependent stress-response pathway leading to cytochrome c release from mitochondria and caspase-dependent apoptosis. Therefore, activation of RNASEL could lead to elimination of virus infected cells under some circumstances. In the crosstalk between autophagy and apoptosis proposed to induce autophagy as an early stress response to small double-stranded RNA and at later stages of prolonged stress to activate caspase-dependent proteolytic cleavage of BECN1 to terminate autophagy and promote apoptosis (PubMed:26263979). Might play a central role in the regulation of mRNA turnover (PubMed:11585831). Cleaves 3' of UpNp dimers, with preference for UU and UA sequences, to sets of discrete products ranging from between 4 and 22 nucleotides in length. NA Belongs to the protein kinase superfamily. Hepatitis C;Influenza A;Herpes simplex infection;Interferon alpha/beta signaling;OAS antiviral response PE1 1 +NX_Q05901 Neuronal acetylcholine receptor subunit beta-3 458 52729 8.15 4 Postsynaptic cell membrane;Cell membrane NA After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-3/CHRNB3 sub-subfamily. Neuroactive ligand-receptor interaction;Highly calcium permeable postsynaptic nicotinic acetylcholine receptors;Highly calcium permeable nicotinic acetylcholine receptors PE2 8 +NX_Q05923 Dual specificity protein phosphatase 2 314 34400 8.24 0 Nucleoplasm;Nucleus membrane;Nucleus NA Regulates mitogenic signal transduction by dephosphorylating both Thr and Tyr residues on MAP kinases ERK1 and ERK2. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. MAPK signaling pathway;RAF-independent MAPK1/3 activation;Negative regulation of MAPK pathway PE1 2 +NX_Q05925 Homeobox protein engrailed-1 392 40115 9.55 0 Nucleoplasm;Nucleus;Nucleolus NA NA NA Belongs to the engrailed homeobox family. NA PE1 2 +NX_Q05932 Folylpolyglutamate synthase, mitochondrial 587 64609 8.17 0 Cytoplasm;Mitochondrion matrix;Mitochondrion inner membrane NA Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis. Unsubstituted reduced folates are the preferred substrates. Metabolizes methotrexate (MTX) to polyglutamates. NA Belongs to the folylpolyglutamate synthase family. Cofactor biosynthesis; tetrahydrofolylpolyglutamate biosynthesis.;Folate biosynthesis;Metabolic pathways;Metabolism of folate and pterines PE1 9 +NX_Q05940 Synaptic vesicular amine transporter 514 55713 5.69 12 Cytoplasmic vesicle;Centrosome;Cytoplasmic vesicle membrane Parkinsonism-dystonia, infantile, 2 Involved in the ATP-dependent vesicular transport of biogenic amine neurotransmitters. Pumps cytosolic monoamines including dopamine, norepinephrine, serotonin, and histamine into synaptic vesicles (PubMed:23363473). Requisite for vesicular amine storage prior to secretion via exocytosis. NA Belongs to the major facilitator superfamily. Vesicular transporter family. Synaptic vesicle cycle;Dopaminergic synapse;Parkinson's disease;Na+/Cl- dependent neurotransmitter transporters;Norepinephrine Neurotransmitter Release Cycle;Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle PE1 10 +NX_Q05952 Nuclear transition protein 2 138 15641 11.59 0 Nucleus;Chromosome NA Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals. In condensing spermatids, loaded onto the nucleosomes, where it promotes the recruitment and processing of protamines, which are responsible for histone eviction. NA Belongs to the nuclear transition protein 2 family. NA PE1 16 +NX_Q05996 Zona pellucida sperm-binding protein 2 745 82357 6 1 Extracellular matrix;Cell membrane Oocyte maturation defect 6 Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy (PubMed:29895852). The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP2 may act as a secondary sperm receptor (PubMed:29895852). O-glycosylated; contains sulfate-substituted glycans.;N-glycosylated.;Proteolytically cleaved in the N-terminal part by the metalloendopeptidase ASTL exocytosed from cortical granules after fertilization, yielding a N-terminal peptide of about 30 kDa which remains covalently attached to the C-terminal peptide via disulfide bond(s). This cleavage may play an important role in the post-fertilization block to polyspermy. Additional proteolytically cleavage of the N-terminal peptide of 30 kDa occurs in one-cell and two-cell embryos.;Proteolytically cleaved before the transmembrane segment to yield the secreted ectodomain incorporated in the zona pellucida. Belongs to the ZP domain family. ZPA subfamily. Interaction With Cumulus Cells And The Zona Pellucida PE1 16 +NX_Q05BQ5 MBT domain-containing protein 1 628 70547 7.96 0 Nucleoplasm;Cytosol;Nucleus NA Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility (By similarity). Specifically binds to monomethylated and dimethylated 'Lys-20' on histone H4. NA NA NA PE1 17 +NX_Q05BU3 Putative protein FAM86JP 40 4003 11.83 0 NA NA NA NA NA NA PE5 3 +NX_Q05BV3 Echinoderm microtubule-associated protein-like 5 1969 219427 7.87 0 Cytoskeleton NA May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic. NA Belongs to the WD repeat EMAP family. NA PE1 14 +NX_Q05C16 Leucine-rich repeat-containing protein 63 580 66309 9.26 0 Golgi apparatus NA NA NA NA NA PE1 13 +NX_Q05D32 CTD small phosphatase-like protein 2 466 52999 6.03 0 Nucleoplasm NA Probable phosphatase. NA Belongs to the CTDSPL2 family. NA PE1 15 +NX_Q05D60 Deuterosome assembly protein 1 604 70977 5.87 0 Cytoplasm NA Key structural component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells and can generate more than 100 centrioles. Probably sufficient for the specification and formation of the deuterosome inner core. Interacts with CEP152 and recruits PLK4 to activate centriole biogenesis (By similarity). NA Belongs to the CEP63 family. NA PE1 11 +NX_Q05DH4 Protein FAM160A1 1040 116621 4.76 0 Cytosol NA NA NA Belongs to the UPF0518 family. NA PE1 4 +NX_Q06033 Inter-alpha-trypsin inhibitor heavy chain H3 890 99849 5.49 0 Secreted NA May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes. Heavy chains are linked to bikunin via chondroitin 4-sulfate esterified to the alpha-carboxyl of the C-terminal aspartate after propeptide cleavage. Belongs to the ITIH family. Platelet degranulation PE1 3 +NX_Q06055 ATP synthase F(0) complex subunit C2, mitochondrial 141 14637 9.26 2 Mitochondrion membrane NA Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element. Trimethylated by ATPSCKMT at Lys-109. Methylation is required for proper incorporation of the C subunit into the ATP synthase complex and mitochondrial respiration. Belongs to the ATPase C chain family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Formation of ATP by chemiosmotic coupling;Cristae formation PE1 12 +NX_Q06124 Tyrosine-protein phosphatase non-receptor type 11 597 68436 6.87 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton Noonan syndrome 1;Metachondromatosis;LEOPARD syndrome 1;Leukemia, juvenile myelomonocytic Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus. Positively regulates MAPK signal transduction pathway (PubMed:28074573). Dephosphorylates GAB1, ARHGAP35 and EGFR (PubMed:28074573). Dephosphorylates ROCK2 at 'Tyr-722' resulting in stimulatation of its RhoA binding activity. Dephosphorylates CDC73 (PubMed:26742426). Phosphorylated on Tyr-546 and Tyr-584 upon receptor protein tyrosine kinase activation; which creates a binding site for GRB2 and other SH2-containing proteins. Phosphorylated upon activation of the receptor-type kinase FLT3. Phosphorylated upon activation of the receptor-type kinase PDGFRA (By similarity). Phosphorylated by activated PDGFRB.;PTPN11 is phosphorylated by JAK2;PTPN11 is phosphorylated by FGFR2;PTPN11 is phosphorylated by FGFR3;PTPN11 is phosphorylated by INSR Belongs to the protein-tyrosine phosphatase family. Non-receptor class 2 subfamily. Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Adipocytokine signaling pathway;Epithelial cell signaling in Helicobacter pylori infection;Herpes simplex infection;Renal cell carcinoma;Chronic myeloid leukemia;Interferon alpha/beta signaling;PD-1 signaling;PI3K Cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;PI-3K cascade:FGFR2;FRS-mediated FGFR2 signaling;FRS-mediated FGFR3 signaling;PI-3K cascade:FGFR3;FRS-mediated FGFR4 signaling;PI-3K cascade:FGFR4;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;GPVI-mediated activation cascade;Regulation of IFNA signaling;Prolactin receptor signaling;Signaling by SCF-KIT;Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;Interleukin-3, Interleukin-5 and GM-CSF signaling;Signal regulatory protein family interactions;Netrin mediated repulsion signals;PECAM1 interactions;CTLA4 inhibitory signaling;MAPK3 (ERK1) activation;Tie2 Signaling;Regulation of IFNG signaling;Spry regulation of FGF signaling;Platelet sensitization by LDL;Interleukin-6 signaling;Signaling by Leptin;Costimulation by the CD28 family;MAPK1 (ERK2) activation;Downstream signal transduction;GAB1 signalosome;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Interleukin-20 family signaling;RET signaling;MET activates PTPN11;Regulation of RUNX1 Expression and Activity;Interleukin-37 signaling;Activated NTRK2 signals through FRS2 and FRS3;FLT3 Signaling;STAT5 Activation PE1 12 +NX_Q06136 3-ketodihydrosphingosine reductase 332 36187 6.75 2 Endoplasmic reticulum membrane Erythrokeratodermia variabilis et progressiva 4 Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS). NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Lipid metabolism; sphingolipid metabolism.;Sphingolipid metabolism;Metabolic pathways;Sphingolipid de novo biosynthesis PE1 18 +NX_Q06141 Regenerating islet-derived protein 3-alpha 175 19395 7.56 0 Secreted NA Bactericidal C-type lectin which acts exclusively against Gram-positive bacteria and mediates bacterial killing by binding to surface-exposed carbohydrate moieties of peptidoglycan. Regulates keratinocyte proliferation and differentiation after skin injury via activation of EXTL3-PI3K-AKT signaling pathway. Proteolytic processing by trypsin removes an inhibitory N-terminal propeptide and is essential for peptidoglycan binding and antibacterial activity. NA Antimicrobial peptides PE1 2 +NX_Q06187 Tyrosine-protein kinase BTK 659 76281 7.83 0 Cytoplasm;Cytosol;Nucleus;Cell membrane Growth hormone deficiency, isolated, 3, with agammaglobulinemia;X-linked agammaglobulinemia Non-receptor tyrosine kinase indispensable for B lymphocyte development, differentiation and signaling. Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation. After BCR engagement and activation at the plasma membrane, phosphorylates PLCG2 at several sites, igniting the downstream signaling pathway through calcium mobilization, followed by activation of the protein kinase C (PKC) family members. PLCG2 phosphorylation is performed in close cooperation with the adapter protein B-cell linker protein BLNK. BTK acts as a platform to bring together a diverse array of signaling proteins and is implicated in cytokine receptor signaling pathways. Plays an important role in the function of immune cells of innate as well as adaptive immunity, as a component of the Toll-like receptors (TLR) pathway. The TLR pathway acts as a primary surveillance system for the detection of pathogens and are crucial to the activation of host defense. Especially, is a critical molecule in regulating TLR9 activation in splenic B-cells. Within the TLR pathway, induces tyrosine phosphorylation of TIRAP which leads to TIRAP degradation. BTK plays also a critical role in transcription regulation. Induces the activity of NF-kappa-B, which is involved in regulating the expression of hundreds of genes. BTK is involved on the signaling pathway linking TLR8 and TLR9 to NF-kappa-B. Transiently phosphorylates transcription factor GTF2I on tyrosine residues in response to BCR. GTF2I then translocates to the nucleus to bind regulatory enhancer elements to modulate gene expression. ARID3A and NFAT are other transcriptional target of BTK. BTK is required for the formation of functional ARID3A DNA-binding complexes. There is however no evidence that BTK itself binds directly to DNA. BTK has a dual role in the regulation of apoptosis. Following B-cell receptor (BCR) engagement, translocates to the plasma membrane where it gets phosphorylated at Tyr-551 by LYN and SYK. Phosphorylation at Tyr-551 is followed by autophosphorylation of Tyr-223 which may create a docking site for a SH2 containing protein. Phosphorylation at Ser-180 by PRKCB, leads in translocation of BTK back to the cytoplasmic fraction. Phosphorylation at Ser-21 and Ser-115 creates a binding site for PIN1 at these Ser-Pro motifs, and promotes it's recruitment.;BTK is phosphorylated by PRKCA (Phosphoserine:PTM-0253);BTK is phosphorylated by PRKCG (Phosphoserine:PTM-0253);BTK is phosphorylated by PRKCE (Phosphoserine:PTM-0253);BTK is phosphorylated by JAK1 (Phosphotyrosine:PTM-0255);BTK is phosphorylated by PRKCQ (Phosphoserine:PTM-0253);BTK is phosphorylated by PRKCB (Phosphoserine:PTM-0253);BTK is phosphorylated by PRKCZ (Phosphoserine:PTM-0253) Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily. Osteoclast differentiation;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Primary immunodeficiency;ER-Phagosome pathway;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;G alpha (q) signalling events;DAP12 signaling;FCERI mediated Ca+2 mobilization;G alpha (12/13) signalling events;MyD88:MAL(TIRAP) cascade initiated on plasma membrane;MyD88 deficiency (TLR2/4);IRAK4 deficiency (TLR2/4);Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;G beta:gamma signalling through BTK PE1 X +NX_Q06190 Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha 1150 130278 5.09 0 Golgi apparatus NA The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. NA NA mRNA surveillance pathway;Dopaminergic synapse PE1 3 +NX_Q06203 Amidophosphoribosyltransferase 517 57399 6.3 0 Midbody ring NA NA NA In the C-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family. Purine metabolism; IMP biosynthesis via de novo pathway; N(1)-(5-phospho-D-ribosyl)glycinamide from 5-phospho-alpha-D-ribose 1-diphosphate: step 1/2.;Purine metabolism;Alanine, aspartate and glutamate metabolism;Metabolic pathways;Purine ribonucleoside monophosphate biosynthesis PE1 4 +NX_Q06210 Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 699 78806 6.66 0 Nucleoplasm;Nucleolus Myasthenic syndrome, congenital, 12 Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1. NA NA Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; alpha-D-glucosamine 6-phosphate from D-fructose 6-phosphate: step 1/1.;Alanine, aspartate and glutamate metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;XBP1(S) activates chaperone genes;Synthesis of UDP-N-acetyl-glucosamine;Defective GFPT1 causes CMSTA1 PE1 2 +NX_Q06250 Putative Wilms tumor upstream neighbor 1 gene protein 92 10039 11.65 0 NA NA NA NA NA NA PE5 11 +NX_Q06265 Exosome complex component RRP45 439 48949 5.19 0 Nucleoplasm;Nucleus;Cytoplasm;Nucleolus Pontocerebellar hypoplasia 1D Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC9 binds to ARE-containing RNAs. NA Belongs to the RNase PH family. RNA degradation;ATF4 activates genes in response to endoplasmic reticulum stress;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA;KSRP (KHSRP) binds and destabilizes mRNA;mRNA decay by 3' to 5' exoribonuclease;Major pathway of rRNA processing in the nucleolus and cytosol PE1 4 +NX_Q06278 Aldehyde oxidase 1338 147918 6.79 0 Cytoplasm NA Oxidase with broad substrate specificity, oxidizing aromatic azaheterocycles, such as N1-methylnicotinamide, N-methylphthalazinium and phthalazine, as well as aldehydes, such as benzaldehyde, retinal, pyridoxal, and vanillin. Plays a key role in the metabolism of xenobiotics and drugs containing aromatic azaheterocyclic substituents. Participates in the bioactivation of prodrugs such as famciclovir, catalyzing the oxidation step from 6-deoxypenciclovir to penciclovir, which is a potent antiviral agent. Is probably involved in the regulation of reactive oxygen species homeostasis. May be a prominent source of superoxide generation via the one-electron reduction of molecular oxygen. Also may catalyze nitric oxide (NO) production via the reduction of nitrite to NO with NADH or aldehyde as electron donor. May play a role in adipogenesis. NA Belongs to the xanthine dehydrogenase family. Valine, leucine and isoleucine degradation;Tyrosine metabolism;Tryptophan metabolism;Vitamin B6 metabolism;Nicotinate and nicotinamide metabolism;Drug metabolism - cytochrome P450;Metabolic pathways;Vitamins B6 activation to pyridoxal phosphate PE1 2 +NX_Q06323 Proteasome activator complex subunit 1 249 28723 5.78 0 Cytosol;Nucleus NA Implicated in immunoproteasome assembly and required for efficient antigen processing. The PA28 activator complex enhances the generation of class I binding peptides by altering the cleavage pattern of the proteasome. NA Belongs to the PA28 family. Proteasome;Antigen processing and presentation;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 14 +NX_Q06330 Recombining binding protein suppressor of hairless 500 55637 6.8 0 Cytoplasm;Nucleoplasm;Nucleus Adams-Oliver syndrome 3 Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins, respectively. Specifically binds to the immunoglobulin kappa-type J segment recombination signal sequence. Binds specifically to methylated DNA (PubMed:21991380). Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen) (PubMed:23303788). Negatively regulates the phagocyte oxidative burst in response to bacterial infection by repressing transcription of NADPH oxidase subunits (By similarity). NA Belongs to the Su(H) family. Notch signaling pathway;Pre-NOTCH Transcription and Translation;Notch-HLH transcription pathway;NOTCH2 intracellular domain regulates transcription;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells;RUNX3 regulates NOTCH signaling;NOTCH3 Intracellular Domain Regulates Transcription;NOTCH4 Intracellular Domain Regulates Transcription PE1 4 +NX_Q06413 Myocyte-specific enhancer factor 2C 473 51221 8.14 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Sarcoplasm Mental retardation, autosomal dominant 20 Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Enhances transcriptional activation mediated by SOX18. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells. May also be involved in neurogenesis and in the development of cortical architecture (By similarity). Isoforms that lack the repressor domain are more active than isoform 1. Proteolytically cleaved in cerebellar granule neurons, probably by caspase 7, following neurotoxicity. Preferentially cleaves the CDK5-mediated hyperphosphorylated form which leads to neuron apoptosis and transcriptional inactivation.;Acetylated by p300 on several sites in diffentiating myocytes. Acetylation on Lys-4 increases DNA binding and transactivation (By similarity).;Sumoylated on Lys-391 with SUMO2 but not by SUMO1 represses transcriptional activity.;Phosphorylation on Ser-59 enhances DNA binding activity (By similarity). Phosphorylation on Ser-396 is required for Lys-391 sumoylation and inhibits transcriptional activity. Belongs to the MEF2 family. MAPK signaling pathway;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;ERK/MAPK targets;MECP2 regulates transcription factors;Myogenesis PE1 5 +NX_Q06416 Putative POU domain, class 5, transcription factor 1B 359 38588 6.26 0 Nucleus NA Shows weak transcriptional activator activity. NA Belongs to the POU transcription factor family. Class-5 subfamily. NA PE5 8 +NX_Q06418 Tyrosine-protein kinase receptor TYRO3 890 96905 5.47 1 Cell membrane NA (Microbial infection) Acts as a receptor for lassa virus and lymphocytic choriomeningitis virus, possibly through GAS6 binding to phosphatidyl-serine at the surface of virion envelope.;(Microbial infection) Acts as a receptor for Ebolavirus, possibly through GAS6 binding to phosphatidyl-serine at the surface of virion envelope.;Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to several ligands including TULP1 or GAS6. Regulates many physiological processes including cell survival, migration and differentiation. Ligand binding at the cell surface induces dimerization and autophosphorylation of TYRO3 on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with PIK3R1 and thereby enhances PI3-kinase activity. Activates the AKT survival pathway, including nuclear translocation of NF-kappa-B and up-regulation of transcription of NF-kappa-B-regulated genes. TYRO3 signaling plays a role in various processes such as neuron protection from excitotoxic injury, platelet aggregation and cytoskeleton reorganization. Plays also an important role in inhibition of Toll-like receptors (TLRs)-mediated innate immune response by activating STAT1, which selectively induces production of suppressors of cytokine signaling SOCS1 and SOCS3. Autophosphorylated.;TYRO3 is phosphorylated by AXL (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);Autophosphorylated Belongs to the protein kinase superfamily. Tyr protein kinase family. AXL/UFO subfamily. NA PE1 15 +NX_Q06432 Voltage-dependent calcium channel gamma-1 subunit 222 25028 6.64 4 Sarcolemma NA Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Regulates channel inactivation kinetics. N-glycosylated. Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. MAPK signaling pathway;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 17 +NX_Q06455 Protein CBFA2T1 604 67566 8.15 0 Nucleoplasm;Nucleus NA Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). Can repress transactivation mediated by TCF12 (PubMed:16803958). Acts as a negative regulator of adipogenesis (By similarity). The AML1-MTG8/ETO fusion protein frequently found in leukemic cells is involved in leukemogenesis and contributes to hematopoietic stem/progenitor cell self-renewal (PubMed:23812588). NA Belongs to the CBFA2T family. NA PE1 8 +NX_Q06481 Amyloid-like protein 2 763 86956 4.73 1 Cytoplasmic vesicle;Nucleus;Cell membrane NA May play a role in the regulation of hemostasis. The soluble form may have inhibitory properties towards coagulation factors. May interact with cellular G-protein signaling pathways. May bind to the DNA 5'-GTCACATG-3'(CDEI box). Inhibits trypsin, chymotrypsin, plasmin, factor XIA and plasma and glandular kallikrein. Modulates the Cu/Zn nitric oxide-catalyzed autodegradation of GPC1 heparan sulfate side chains in fibroblasts (By similarity). The BPTI/Kunitz inhibitor domain is O-glycosylated. Belongs to the APP family. Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 11 +NX_Q06495 Sodium-dependent phosphate transport protein 2A 639 68937 8.99 8 Nucleus speckle;Cell membrane;Apical cell membrane;Nucleoplasm;Cytosol;Spindle Hypercalcemia, infantile, 2;Fanconi renotubular syndrome 2;Nephrolithiasis/osteoporosis, hypophosphatemic, 1 Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 70-80% of the apical influx. NA Belongs to the SLC34A transporter family. Type II Na+/Pi cotransporters;Surfactant metabolism;Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) PE1 5 +NX_Q06520 Bile salt sulfotransferase 285 33780 5.71 0 Cytoplasm;Cytosol NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfonation of steroids and bile acids in the liver and adrenal glands. The N-terminus is blocked. Belongs to the sulfotransferase 1 family. Metabolism of xenobiotics by cytochrome P450;Bile secretion;PPARA activates gene expression;Cytosolic sulfonation of small molecules PE1 19 +NX_Q06546 GA-binding protein alpha chain 454 51295 4.87 0 Nucleoplasm;Nucleus NA Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the expression of the Adenovirus E4 gene. NA Belongs to the ETS family. Transcriptional activation of mitochondrial biogenesis PE1 21 +NX_Q06547 GA-binding protein subunit beta-1 395 42483 4.77 0 Nucleoplasm;Cytosol;Nucleus NA Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the expression of the Adenovirus E4 gene. NA NA Transcriptional activation of mitochondrial biogenesis PE1 15 +NX_Q06587 E3 ubiquitin-protein ligase RING1 406 42429 5.44 0 Nucleoplasm;Cytosol;Nucleus speckle;Nucleus NA Constitutes one of the E3 ubiquitin-protein ligases that mediate monoubiquitination of 'Lys-119' of histone H2A, thereby playing a central role in histone code and gene regulation. H2A 'Lys-119' ubiquitination gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. Essential component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones, rendering chromatin heritably changed in its expressibility. Compared to RNF2/RING2, it does not have the main E3 ubiquitin ligase activity on histone H2A, and it may rather act as a modulator of RNF2/RING2 activity. NA NA Protein modification; protein ubiquitination.;SUMOylation of DNA damage response and repair proteins;Oxidative Stress Induced Senescence;SUMOylation of RNA binding proteins;SUMOylation of chromatin organization proteins;Transcriptional Regulation by E2F6;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known;Regulation of PTEN gene transcription;SUMOylation of transcription cofactors;SUMOylation of DNA methylation proteins PE1 6 +NX_Q06609 DNA repair protein RAD51 homolog 1 339 36966 5.44 0 Cytoplasm;Mitochondrion matrix;Nucleolus;Chromosome;Centrosome;Cytosol;Perinuclear region;Nucleus Breast cancer;Mirror movements 2;Fanconi anemia, complementation group R Plays an important role in homologous strand exchange, a key step in DNA repair through homologous recombination (HR) (PubMed:28575658). Binds to single and double-stranded DNA and exhibits DNA-dependent ATPase activity. Catalyzes the recognition of homology and strand exchange between homologous DNA partners to form a joint molecule between a processed DNA break and the repair template. Binds to single-stranded DNA in an ATP-dependent manner to form nucleoprotein filaments which are essential for the homology search and strand exchange (PubMed:26681308). Part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C and which is thought to play a role in DNA repair by HR. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51C and XRCC3. Also involved in interstrand cross-link repair (PubMed:26253028). Ubiquitinated by the SCF(FBH1) E3 ubiquitin ligase complex, regulating RAD51 subcellular location and preventing its association with DNA. Ubiquitinated by RFWD3 in response to DNA damage: ubiquitination leads to degradation by the proteasome, promoting homologous recombination (PubMed:28575658).;Phosphorylated. Phosphorylation of Thr-309 by CHEK1 may enhance association with chromatin at sites of DNA damage and promote DNA repair by homologous recombination. Phosphorylation by ABL1 inhibits function.;RAD51 is phosphorylated by CHEK1 Belongs to the RecA family. RAD51 subfamily. Homologous recombination;Fanconi anemia pathway;Pathways in cancer;Pancreatic cancer;Meiotic recombination;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Presynaptic phase of homologous DNA pairing and strand exchange;Transcriptional Regulation by E2F6 PE1 15 +NX_Q06643 Lymphotoxin-beta 244 25390 5.25 1 Membrane;Centrosome NA Is probably non-functional.;Cytokine that binds to LTBR/TNFRSF3. May play a specific role in immune response regulation. Provides the membrane anchor for the attachment of the heterotrimeric complex to the cell surface. NA Belongs to the tumor necrosis factor family. Cytokine-cytokine receptor interaction;Rheumatoid arthritis;TNFR2 non-canonical NF-kB pathway;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway PE1 6 +NX_Q06710 Paired box protein Pax-8 450 48218 7.72 0 Nucleoplasm;Nucleus Hypothyroidism, congenital, non-goitrous, 2 Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells. NA NA Pathways in cancer;Thyroid cancer PE1 2 +NX_Q06730 Zinc finger protein 33A 810 94384 8.42 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 10 +NX_Q06732 Zinc finger protein 33B 778 90683 8.6 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 10 +NX_Q06787 Synaptic functional regulator FMR1 632 71174 7 0 Cajal body;Dendritic spine;Filopodium tip;Presynaptic cell membrane;Postsynaptic cell membrane;Growth cone;Cytosol;Dendrite;Cytoplasm;Cell membrane;Synaptosome;Synapse;Neuron projection;Stress granule;Chromosome;Axon;Perikaryon;Nucleolus;Centromere;Cytoplasmic ribonucleoprotein granule;Perinuclear region;Nucleus Fragile X tremor/ataxia syndrome;Premature ovarian failure 1;Fragile X syndrome Binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:24204304). May bind to RNA in Cajal bodies (PubMed:24204304).;Multifunctional polyribosome-associated RNA-binding protein that plays a central role in neuronal development and synaptic plasticity through the regulation of alternative mRNA splicing, mRNA stability, mRNA dendritic transport and postsynaptic local protein synthesis of a subset of mRNAs (PubMed:16631377, PubMed:18653529, PubMed:19166269, PubMed:23235829, PubMed:25464849). Plays a role in the alternative splicing of its own mRNA (PubMed:18653529). Plays a role in mRNA nuclear export (By similarity). Together with export factor NXF2, is involved in the regulation of the NXF1 mRNA stability in neurons (By similarity). Stabilizes the scaffolding postsynaptic density protein DLG4/PSD-95 and the myelin basic protein (MBP) mRNAs in hippocampal neurons and glial cells, respectively; this stabilization is further increased in response to metabotropic glutamate receptor (mGluR) stimulation (By similarity). Plays a role in selective delivery of a subset of dendritic mRNAs to synaptic sites in response to mGluR activation in a kinesin-dependent manner (By similarity). Plays a role as a repressor of mRNA translation during the transport of dendritic mRNAs to postnyaptic dendritic spines (PubMed:11532944, PubMed:11157796, PubMed:12594214, PubMed:23235829). Component of the CYFIP1-EIF4E-FMR1 complex which blocks cap-dependent mRNA translation initiation (By similarity). Represses mRNA translation by stalling ribosomal translocation during elongation (By similarity). Reports are contradictory with regards to its ability to mediate translation inhibition of MBP mRNA in oligodendrocytes (PubMed:23891804). Also involved in the recruitment of the RNA helicase MOV10 to a subset of mRNAs and hence regulates microRNA (miRNA)-mediated translational repression by AGO2 (PubMed:14703574, PubMed:17057366, PubMed:25464849). Facilitates the assembly of miRNAs on specific target mRNAs (PubMed:17057366). Plays also a role as an activator of mRNA translation of a subset of dendritic mRNAs at synapses (PubMed:19097999, PubMed:19166269). In response to mGluR stimulation, FMR1-target mRNAs are rapidly derepressed, allowing for local translation at synapses (By similarity). Binds to a large subset of dendritic mRNAs that encode a myriad of proteins involved in pre- and postsynaptic functions (PubMed:7692601, PubMed:11719189, PubMed:11157796, PubMed:12594214, PubMed:17417632, PubMed:23235829, PubMed:24448548). Binds to 5'-ACU[GU]-3' and/or 5'-[AU]GGA-3' RNA consensus sequences within mRNA targets, mainly at coding sequence (CDS) and 3'-untranslated region (UTR) and less frequently at 5'-UTR (PubMed:23235829). Binds to intramolecular G-quadruplex structures in the 5'- or 3'-UTRs of mRNA targets (PubMed:11719189, PubMed:18579868, PubMed:25464849, PubMed:25692235). Binds to G-quadruplex structures in the 3'-UTR of its own mRNA (PubMed:7692601, PubMed:11532944, PubMed:12594214, PubMed:15282548, PubMed:18653529). Binds also to RNA ligands harboring a kissing complex (kc) structure; this binding may mediate the association of FMR1 with polyribosomes (PubMed:15805463). Binds mRNAs containing U-rich target sequences (PubMed:12927206). Binds to a triple stem-loop RNA structure, called Sod1 stem loop interacting with FMRP (SoSLIP), in the 5'-UTR region of superoxide dismutase SOD1 mRNA (PubMed:19166269). Binds to the dendritic, small non-coding brain cytoplasmic RNA 1 (BC1); which may increase the association of the CYFIP1-EIF4E-FMR1 complex to FMR1 target mRNAs at synapses (By similarity). Associates with export factor NXF1 mRNA-containing ribonucleoprotein particles (mRNPs) in a NXF2-dependent manner (By similarity). Binds to a subset of miRNAs in the brain (PubMed:14703574, PubMed:17057366). May associate with nascent transcripts in a nuclear protein NXF1-dependent manner (PubMed:18936162). In vitro, binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:7688265, PubMed:7781595, PubMed:12950170, PubMed:15381419, PubMed:8156595). Moreover, plays a role in the modulation of the sodium-activated potassium channel KCNT1 gating activity (PubMed:20512134). Negatively regulates the voltage-dependent calcium channel current density in soma and presynaptic terminals of dorsal root ganglion (DRG) neurons, and hence regulates synaptic vesicle exocytosis (By similarity). Modulates the voltage-dependent calcium channel CACNA1B expression at the plasma membrane by targeting the channels for proteosomal degradation (By similarity). Plays a role in regulation of MAP1B-dependent microtubule dynamics during neuronal development (By similarity). Recently, has been shown to play a translation-independent role in the modulation of presynaptic action potential (AP) duration and neurotransmitter release via large-conductance calcium-activated potassium (BK) channels in hippocampal and cortical excitatory neurons (PubMed:25561520). Finally, FMR1 may be involved in the control of DNA damage response (DDR) mechanisms through the regulation of ATR-dependent signaling pathways such as histone H2AFX/H2A.x and BRCA1 phosphorylations (PubMed:24813610).;(Microbial infection) Acts as a positive regulator of influenza A virus (IAV) replication. Required for the assembly and nuclear export of the viral ribonucleoprotein (vRNP) components.;Binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:24204304). May bind to RNA in Cajal bodies (PubMed:24204304). Undergoes proteolytic cleavage; may be specifically cleaved by calpain-1/CAPN1 in cajal bodies (PubMed:24204304).;Methylated; methylation is necessary for heterodimerization with FXR1, association with polyribosomes, recruitment into stress granules and translation of FMR1 target mRNAs (PubMed:16636078). Methylated by PRMT1, PRMT3 and PRMT4, in vitro (PubMed:16922515).;Monoubiquitinated. Polyubiquitinated. Ubiquitinated and targeted for proteasomal degradation after activation of metabotropic glutamate receptor (mGluR).;Phosphorylated (PubMed:14532325). Phosphorylated on several serine residues. Phosphorylation at Ser-500 is required for phosphorylation of other nearby serine residues. Phosphorylation has no effect on the binding of individual mRNA species, but may affect the association with polyribosome. Unphosphorylated FMR1 is associated with actively translating polyribosome, whereas a fraction of phosphorylated FMR1 is associated with apparently stalled polyribosome. Dephosphorylation by an activated phosphatase may release the FMR1-mediated translational repression and allow synthesis of a locally required protein at snypases (By similarity). Belongs to the FMR1 family. NA PE1 X +NX_Q06828 Fibromodulin 376 43179 5.66 0 Extracellular matrix NA Affects the rate of fibrils formation. May have a primary role in collagen fibrillogenesis (By similarity). Binds keratan sulfate chains. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily. Keratan sulfate biosynthesis;Defective CHST6 causes MCDC1;Keratan sulfate degradation;Defective B4GALT1 causes B4GALT1-CDG (CDG-2d);ECM proteoglycans;Defective ST3GAL3 causes MCT12 and EIEE15 PE1 1 +NX_Q06830 Peroxiredoxin-1 199 22110 8.27 0 Cytoplasm;Melanosome;Mitochondrion NA Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events. Might participate in the signaling cascades of growth factors and tumor necrosis factor-alpha by regulating the intracellular concentrations of H(2)O(2) (PubMed:9497357). Reduces an intramolecular disulfide bond in GDPD5 that gates the ability to GDPD5 to drive postmitotic motor neuron differentiation (By similarity). The enzyme can be inactivated by further oxidation of the cysteine sulfenic acid (C(P)-SOH) to sulphinic acid (C(P)-SO2H) instead of its condensation to a disulfide bond. It can be reactivated by forming a transient disulfide bond with sulfiredoxin SRXN1, which reduces the cysteine sulfinic acid in an ATP- and Mg-dependent manner.;Phosphorylated on Thr-90 during the M-phase, which leads to a more than 80% decrease in enzymatic activity. Belongs to the peroxiredoxin family. AhpC/Prx1 subfamily. Peroxisome;Detoxification of Reactive Oxygen Species;TP53 Regulates Metabolic Genes;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models PE1 1 +NX_Q06889 Early growth response protein 3 387 42613 8.62 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Probable transcription factor involved in muscle spindle development. NA Belongs to the EGR C2H2-type zinc-finger protein family. NA PE1 8 +NX_Q06945 Transcription factor SOX-4 474 47263 6.87 0 Nucleoplasm;Mitochondrion;Nucleus NA Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif. NA NA Deactivation of the beta-catenin transactivating complex PE1 6 +NX_Q07001 Acetylcholine receptor subunit delta 517 58895 6.12 4 Postsynaptic cell membrane;Nucleoplasm;Cytosol;Cell membrane Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency;Multiple pterygium syndrome, lethal type;Myasthenic syndrome, congenital, 3A, slow-channel;Myasthenic syndrome, congenital, 3B, fast-channel After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Delta/CHRND sub-subfamily. Neuroactive ligand-receptor interaction;Highly sodium permeable acetylcholine nicotinic receptors PE1 2 +NX_Q07002 Cyclin-dependent kinase 18 474 54424 8.84 0 Cytoskeleton NA May play a role in signal transduction cascades in terminally differentiated cells. NA Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. NA PE1 1 +NX_Q07011 Tumor necrosis factor receptor superfamily member 9 255 27899 8.12 1 Membrane;Nucleolus;Cell membrane NA Receptor for TNFSF9/4-1BBL. Possibly active during T cell activation. NA NA Cytokine-cytokine receptor interaction;TNFs bind their physiological receptors PE1 1 +NX_Q07020 60S ribosomal protein L18 188 21634 11.73 0 Cytoplasm;Nucleolus;Rough endoplasmic reticulum;Endoplasmic reticulum;Cytosol;Nucleus Diamond-Blackfan anemia 18 Component of the large ribosomal subunit. RPL18 is phosphorylated by MAPK3 Belongs to the eukaryotic ribosomal protein eL18 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 19 +NX_Q07021 Complement component 1 Q subcomponent-binding protein, mitochondrial 282 31362 4.74 0 Cytoplasm;Mitochondrion;Cell membrane;Mitochondrion matrix;Secreted;Nucleolus;Nucleus Combined oxidative phosphorylation deficiency 33 (Microbial infection) Involved in replication of Rubella virus.;(Microbial infection) In infection processes acts as an attachment site for microbial proteins, including Listeria monocytogenes internalin B (InlB) and Staphylococcus aureus protein A.;(Microbial infection) Involved in HIV-1 replication, presumably by contributing to splicing of viral RNA.;Is believed to be a multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, protein synthesis in mitochondria, regulation of apoptosis, transcriptional regulation and pre-mRNA splicing. At the cell surface is thought to act as an endothelial receptor for plasma proteins of the complement and kallikrein-kinin cascades. Putative receptor for C1q; specifically binds to the globular 'heads' of C1q thus inhibiting C1; may perform the receptor function through a complex with C1qR/CD93. In complex with cytokeratin-1/KRT1 is a high affinity receptor for kininogen-1/HMWK. Can also bind other plasma proteins, such as coagulation factor XII leading to its autoactivation. May function to bind initially fluid kininogen-1 to the cell membrane. The secreted form may enhance both extrinsic and intrinsic coagulation pathways. It is postulated that the cell surface form requires docking with transmembrane proteins for downstream signaling which might be specific for a cell-type or response. By acting as C1q receptor is involved in chemotaxis of immature dendritic cells and neutrophils and is proposed to signal through CD209/DC-SIGN on immature dendritic cells, through integrin alpha-4/beta-1 during trophoblast invasion of the decidua, and through integrin beta-1 during endothelial cell adhesion and spreading. Signaling involved in inhibition of innate immune response is implicating the PI3K-AKT/PKB pathway. Required for protein synthesis in mitochondria (PubMed:28942965). In mitochondrial translation may be involved in formation of functional 55S mitoribosomes; the function seems to involve its RNA-binding activity. May be involved in the nucleolar ribosome maturation process; the function may involve the exchange of FBL for RRP1 in the association with pre-ribosome particles. Involved in regulation of RNA splicing by inhibiting the RNA-binding capacity of SRSF1 and its phosphorylation. Is required for the nuclear translocation of splicing factor U2AF1L4. Involved in regulation of CDKN2A- and HRK-mediated apoptosis. Stabilizes mitochondrial CDKN2A isoform smARF. May be involved in regulation of FOXC1 transcriptional activity and NFY/CCAAT-binding factor complex-mediated transcription. May play a role in antibacterial defense as it can bind to cell surface hyaluronan and inhibit Streptococcus pneumoniae hyaluronate lyase. May be involved in modulation of the immune response; ligation by HCV core protein is resulting in suppression of interleukin-12 production in monocyte-derived dendritic cells. Involved in regulation of antiviral response by inhibiting DDX58- and IFIH1-mediated signaling pathways probably involving its association with MAVS after viral infection. NA Belongs to the MAM33 family. Herpes simplex infection;Intrinsic Pathway of Fibrin Clot Formation PE1 17 +NX_Q07065 Cytoskeleton-associated protein 4 602 66022 5.63 1 Endoplasmic reticulum membrane;Nucleus speckle;Cell membrane;Cytosol;Perinuclear region;Cytoskeleton NA High-affinity epithelial cell surface receptor for APF.;Mediates the anchoring of the endoplasmic reticulum to microtubules. Increased phosphorylation during mitosis prevents binding to microtubules.;Reversibly palmitoylated. Palmitoylation at Cys-100 by DHHC2 is required for its trafficking from the ER to the plasma membrane and for its perinuclear localization. NA Protein processing in endoplasmic reticulum;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Surfactant metabolism;Neutrophil degranulation;Post-translational protein phosphorylation PE1 12 +NX_Q07075 Glutamyl aminopeptidase 957 109244 5.31 1 Cell membrane NA Regulates central hypertension through its calcium-modulated preference to cleave N-terminal acidic residues from peptides such as angiotensin II. NA Belongs to the peptidase M1 family. Renin-angiotensin system;Metabolism of Angiotensinogen to Angiotensins PE1 4 +NX_Q07092 Collagen alpha-1(XVI) chain 1604 157751 8.14 0 Golgi apparatus;Cytosol;Extracellular matrix;Cell membrane NA Involved in mediating cell attachment and inducing integrin-mediated cellular reactions, such as cell spreading and alterations in cell morphology. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.;Glycosylated. Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;Collagen chain trimerization PE1 1 +NX_Q07108 Early activation antigen CD69 199 22559 6.16 1 Membrane NA Involved in lymphocyte proliferation and functions as a signal transmitting receptor in lymphocytes, natural killer (NK) cells, and platelets. Constitutive Ser/Thr phosphorylation in both mature thymocytes and activated T-lymphocytes. NA NA PE1 12 +NX_Q07157 Tight junction protein ZO-1 1748 195459 6.24 0 Golgi apparatus;Cell membrane;Cell junction;Gap junction;Podosome;Tight junction NA TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton (PubMed:7798316, PubMed:9792688). The tight junction acts to limit movement of substances through the paracellular space and as a boundary between the compositionally distinct apical and basolateral plasma membrane domains of epithelial and endothelial cells. Necessary for lumenogenesis, and particularly efficient epithelial polarization and barrier formation (By similarity). Plays a role in the regulation of cell migration by targeting CDC42BPB to the leading edge of migrating cells (PubMed:21240187). Plays an important role in podosome formation and associated function, thus regulating cell adhesion and matrix remodeling (PubMed:20930113). With TJP2 and TJP3, participates to the junctional retention and stability of the transcription factor DBPA, but is not involved in its shuttling to the nucleus (By similarity). Phosphorylated at tyrosine redidues in response to epidermal growth factor (EGF) (PubMed:19332538, PubMed:7542259). This response is dependent on an intact actin microfilament system (PubMed:7542259). Dephosphorylated by PTPRJ (PubMed:19332538). Belongs to the MAGUK family. Adherens junction;Tight junction;Gap junction;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Salmonella infection;Signaling by Hippo;Apoptotic cleavage of cell adhesion proteins;RUNX1 regulates expression of components of tight junctions;Regulation of gap junction activity PE1 15 +NX_Q07283 Trichohyalin 1943 253925 5.73 0 NA Uncombable hair syndrome 3 Intermediate filament-associated protein that associates in regular arrays with keratin intermediate filaments (KIF) of the inner root sheath cells of the hair follicle and the granular layer of the epidermis. It later becomes cross-linked to KIF by isodipeptide bonds. It may serve as scaffold protein, together with involucrin, in the organization of the cell envelope or even anchor the cell envelope to the KIF network. It may be involved in its own calcium-dependent postsynthetic processing during terminal differentiation. Substrate of transglutaminase. Some 200 arginines are probably converted to citrullines by peptidylarginine deimidase. Belongs to the S100-fused protein family. Formation of the cornified envelope PE1 1 +NX_Q07325 C-X-C motif chemokine 9 125 14019 10.39 0 Secreted NA Cytokine that affects the growth, movement, or activation state of cells that participate in immune and inflammatory response. Chemotactic for activated T-cells. Binds to CXCR3. NA Belongs to the intercrine alpha (chemokine CxC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Toll-like receptor signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 4 +NX_Q07326 Phosphatidylinositol-glycan biosynthesis class F protein 219 24890 8.88 6 Endoplasmic reticulum membrane NA Involved in GPI-anchor biosynthesis through the transfer of ethanolamine phosphate to the third mannose of GPI. NA Belongs to the PIGF family. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Synthesis of glycosylphosphatidylinositol (GPI) PE1 2 +NX_Q07343 cAMP-specific 3',5'-cyclic phosphodiesterase 4B 736 83343 5.09 0 Golgi apparatus;Cytosol NA Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in mediating central nervous system effects of therapeutic agents ranging from antidepressants to antiasthmatic and anti-inflammatory agents. NA Belongs to the cyclic nucleotide phosphodiesterase family. PDE4 subfamily. Purine metabolism; 3',5'-cyclic AMP degradation; AMP from 3',5'-cyclic AMP: step 1/1.;Purine metabolism;DARPP-32 events PE1 1 +NX_Q07352 mRNA decay activator protein ZFP36L1 338 36314 8.12 0 Cytoplasm;P-body;Cytoplasmic granule;Nucleus NA Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis (PubMed:12198173, PubMed:15538381, PubMed:15467755, PubMed:17030608, PubMed:19179481, PubMed:20702587, PubMed:24700863, PubMed:25106868, PubMed:25014217, PubMed:26542173). Acts as a 3'-untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signaling events to the mRNA decay machinery (PubMed:15687258). Functions by recruiting the CCR4-NOT deadenylase complex and components of the cytoplasmic RNA decay machinery to the bound ARE-containing mRNAs, and hence promotes ARE-mediated mRNA deadenylation and decay processes (PubMed:15687258, PubMed:18326031, PubMed:25106868). Induces also the degradation of ARE-containing mRNAs even in absence of poly(A) tail (By similarity). Binds to 3'-UTR ARE of numerous mRNAs (PubMed:12198173, PubMed:15538381, PubMed:15467755, PubMed:17030608, PubMed:19179481, PubMed:20702587, PubMed:24700863, PubMed:25106868, PubMed:25014217, PubMed:26542173). Positively regulates early adipogenesis by promoting ARE-mediated mRNA decay of immediate early genes (IEGs) (By similarity). Promotes ARE-mediated mRNA decay of mineralocorticoid receptor NR3C2 mRNA in response to hypertonic stress (PubMed:24700863). Negatively regulates hematopoietic/erythroid cell differentiation by promoting ARE-mediated mRNA decay of the transcription factor STAT5B mRNA (PubMed:20702587). Positively regulates monocyte/macrophage cell differentiation by promoting ARE-mediated mRNA decay of the cyclin-dependent kinase CDK6 mRNA (PubMed:26542173). Promotes degradation of ARE-containing pluripotency-associated mRNAs in embryonic stem cells (ESCs), such as NANOG, through a fibroblast growth factor (FGF)-induced MAPK-dependent signaling pathway, and hence attenuates ESC self-renewal and positively regulates mesendoderm differentiation (By similarity). May play a role in mediating pro-apoptotic effects in malignant B-cells by promoting ARE-mediated mRNA decay of BCL2 mRNA (PubMed:25014217). In association with ZFP36L2 maintains quiescence on developing B lymphocytes by promoting ARE-mediated decay of several mRNAs encoding cell cycle regulators that help B cells progress through the cell cycle, and hence ensuring accurate variable-diversity-joining (VDJ) recombination and functional immune cell formation (By similarity). Together with ZFP36L2 is also necessary for thymocyte development and prevention of T-cell acute lymphoblastic leukemia (T-ALL) transformation by promoting ARE-mediated mRNA decay of the oncogenic transcription factor NOTCH1 mRNA (By similarity). Participates in the delivery of target ARE-mRNAs to processing bodies (PBs) (PubMed:17369404). In addition to its cytosolic mRNA-decay function, plays a role in the regulation of nuclear mRNA 3'-end processing; modulates mRNA 3'-end maturation efficiency of the DLL4 mRNA through binding with an ARE embedded in a weak noncanonical polyadenylation (poly(A)) signal in endothelial cells (PubMed:21832157). Also involved in the regulation of stress granule (SG) and P-body (PB) formation and fusion (PubMed:15967811). Plays a role in vasculogenesis and endocardial development (By similarity). Plays a role in the regulation of keratinocyte proliferation, differentiation and apoptosis (PubMed:27182009). Plays a role in myoblast cell differentiation (By similarity). Ubiquitinated. Ubiquitination leads to proteasomal degradation, a process inhibited by phosphorylations at Ser-90, Ser-92 and Ser-203 (PubMed:17030608).;Phosphorylated (PubMed:19179481). Phosphorylated by RPS6KA1 at Ser-334 upon phorbol 12-myristate 13-acetate (PMA) treatment; this phosphorylation results in dissociation of the CCR4-NOT deadenylase complex and induces p38 MAPK-mediated stabilization of the low-density lipoprotein receptor LDLR mRNA (PubMed:25106868). Phosphorylated by protein kinase AKT1 at Ser-92 and Ser-203 in response to insulin; these phosphorylations stabilize ZFP36L1, increase the association with 14-3-3 proteins and mediate ARE-containing mRNA stabilization (PubMed:15538381, PubMed:17030608). AKT1-mediated phosphorylation at Ser-92 does not impair ARE-containing RNA-binding (PubMed:15538381). Phosphorylated at Ser-54, Ser-92 and Ser-203 by MAPKAPK2; these phosphorylations increase the association with 14-3-3 proteins and mediate ARE-containing mRNA stabilization in a protein kinase AKT1-independent manner (PubMed:18326031). MAPKAPK2-mediated phosphorylations at Ser-54, Ser-92 and Ser-203 do not impair ARE-containing RNA-binding (PubMed:18326031). Phosphorylations increase the association with 14-3-3 proteins and mediate ARE-containing mRNA stabilization during early adipogenesis in a p38 MAPK- and AKT-dependent manner (By similarity). NA Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA PE1 14 +NX_Q07444 NKG2-E type II integral membrane protein 240 27100 8.36 1 Membrane;Cytoplasmic vesicle NA Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells. NA NA Antigen processing and presentation;Natural killer cell mediated cytotoxicity PE2 12 +NX_Q07507 Dermatopontin 201 24005 4.7 0 Cytoplasmic vesicle;Extracellular matrix NA Seems to mediate adhesion by cell surface integrin binding. May serve as a communication link between the dermal fibroblast cell surface and its extracellular matrix environment. Enhances TGFB1 activity. Inhibits cell proliferation. Accelerates collagen fibril formation, and stabilizes collagen fibrils against low-temperature dissociation (By similarity). Sulfated on tyrosine residue(s). Belongs to the dermatopontin family. NA PE1 1 +NX_Q075Z2 Binder of sperm protein homolog 1 132 15693 6.8 0 Secreted NA Binds sperm in vitro and promotes sperm capacitation. Specifically promotes capacitation induced by high density lipoproteins (HDLs). Also binds heparin, phospholipid liposomes, and weakly to gelatin. Does not bind chondroitin sulfate B. NA Belongs to the seminal plasma protein family. NA PE1 19 +NX_Q07617 Sperm-associated antigen 1 926 103639 6.46 0 Cytoplasm;Cytosol Ciliary dyskinesia, primary, 28 May play a role in the cytoplasmic assembly of the ciliary dynein arms (By similarity). May play a role in fertilization. Binds GTP and has GTPase activity. NA NA NA PE1 8 +NX_Q07627 Keratin-associated protein 1-1 177 18235 5.55 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 1 family. Keratinization PE1 17 +NX_Q07654 Trefoil factor 3 94 10181 6.52 0 Nucleoplasm;Cytoplasm;Extracellular matrix;Nucleolus NA Involved in the maintenance and repair of the intestinal mucosa. Promotes the mobility of epithelial cells in healing processes (motogen). NA NA Estrogen-dependent gene expression PE1 21 +NX_Q07666 KH domain-containing, RNA-binding, signal transduction-associated protein 1 443 48227 8.73 0 Membrane;Cytoplasm;Nucleoplasm;Nucleus NA Which is expressed in growth-arrested cells only, inhibits S phase.;Recruited and tyrosine phosphorylated by several receptor systems, for example the T-cell, leptin and insulin receptors. Once phosphorylated, functions as an adapter protein in signal transduction cascades by binding to SH2 and SH3 domain-containing proteins. Role in G2-M progression in the cell cycle. Represses CBP-dependent transcriptional activation apparently by competing with other nuclear factors for binding to CBP. Also acts as a putative regulator of mRNA stability and/or translation rates and mediates mRNA nuclear export. Positively regulates the association of constitutive transport element (CTE)-containing mRNA with large polyribosomes and translation initiation. According to some authors, is not involved in the nucleocytoplasmic export of unspliced (CTE)-containing RNA species according to (PubMed:22253824). RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds to RNA containing 5'-[AU]UAA-3' as a bipartite motif spaced by more than 15 nucleotides. Binds poly(A). Can regulate CD44 alternative splicing in a Ras pathway-dependent manner (By similarity). In cooperation with HNRNPA1 modulates alternative splicing of BCL2L1 by promoting splicing toward isoform Bcl-X(S), and of SMN1 (PubMed:17371836, PubMed:20186123). Can regulate alternative splicing of NRXN1 and NRXN3 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners. In a neuronal activity-dependent manner cooperates synergistically with KHDRBS2/SLIM-1 in regulation of NRXN1 exon skipping at AS4. The cooperation with KHDRBS2/SLIM-1 is antagonistic for regulation of NXRN3 alternative splicing at AS4 (By similarity). Acetylated. Positively correlates with ability to bind RNA.;Arginine methylation is required for nuclear localization. Also can affect interaction with other proteins. Inhibits interaction with Src-like SH3 domains, but not interaction with WW domains of WBP4/FBP21 AND FNBP4/FBP30.;Tyrosine phosphorylated by several non-receptor tyrosine kinases including LCK, FYN and JAK3. Also tyrosine phosphorylated by the non-receptor tyrosine kinase SRMS in an EGF-dependent manner (PubMed:29496907). Negatively correlates with ability to bind RNA but required for many interactions with proteins. Phosphorylation by PTK6 negatively regulates its RNA binding ability. Phosphorylation by PTK6 at Tyr-440 dictates the nuclear localization of KHDRBS1. Phosphorylation at Tyr-387 disrupts interaction with APC. Phosphorylation at tyrosine residues by FYN inverts activity on modulation of BCL2L1 alternative splicing.;KHDRBS1 is phosphorylated by SRC Belongs to the KHDRBS family. PTK6 Regulates Proteins Involved in RNA Processing PE1 1 +NX_Q07687 Homeobox protein DLX-2 328 34243 9.25 0 Nucleus speckle;Nucleus NA Acts as a transcriptional activator. Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina. Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis. NA Belongs to the distal-less homeobox family. NA PE1 2 +NX_Q07699 Sodium channel subunit beta-1 218 24707 4.88 1 Cell membrane;Perikaryon;Secreted;Cell projection;Axon Epileptic encephalopathy, early infantile, 52;Atrial fibrillation, familial, 13;Brugada syndrome 5;Generalized epilepsy with febrile seizures plus 1 Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth (PubMed:21994374). Has no regulatory function on the SCN2A sodium channel complex (PubMed:14622265).;Regulatory subunit of multiple voltage-gated sodium channel complexes that play important roles in excitable membranes in brain, heart and skeletal muscle. Enhances the presence of the pore-forming alpha subunit at the cell surface and modulates channel gating characteristics and the rate of channel inactivation. Modulates the activity of multiple pore-forming alpha subunits, such as SCN1A, SCN2A, SCN3A, SCN4A, SCN5A and SCN10A. NA Belongs to the sodium channel auxiliary subunit SCN1B (TC 8.A.17) family. Interaction between L1 and Ankyrins;Phase 0 - rapid depolarisation PE1 19 +NX_Q07812 Apoptosis regulator BAX 192 21184 5.08 1 Mitochondrion outer membrane;Cytoplasm NA Plays a role in the mitochondrial apoptotic process. Under normal conditions, BAX is largely cytosolic via constant retrotranslocation from mitochondria to the cytosol mediated by BCL2L1/Bcl-xL, which avoids accumulation of toxic BAX levels at the mitochondrial outer membrane (MOM) (PubMed:21458670). Under stress conditions, undergoes a conformation change that causes translocation to the mitochondrion membrane, leading to the release of cytochrome c that then triggers apoptosis. Promotes activation of CASP3, and thereby apoptosis. NA Belongs to the Bcl-2 family. p53 signaling pathway;Protein processing in endoplasmic reticulum;Apoptosis;Neurotrophin signaling pathway;Amyotrophic lateral sclerosis (ALS);Huntington's disease;Prion diseases;Tuberculosis;HTLV-I infection;Pathways in cancer;Colorectal cancer;Release of apoptotic factors from the mitochondria;Activation, translocation and oligomerization of BAX;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;Transcriptional regulation by RUNX2;NTRK3 as a dependence receptor PE1 19 +NX_Q07817 Bcl-2-like protein 1 233 26049 4.86 1 Mitochondrion outer membrane;Mitochondrion;Mitochondrion matrix;Nucleus membrane;Synaptic vesicle membrane;Centrosome;Cytosol;Mitochondrion inner membrane NA Promotes apoptosis.;Potent inhibitor of cell death. Inhibits activation of caspases. Appears to regulate cell death by blocking the voltage-dependent anion channel (VDAC) by binding to it and preventing the release of the caspase activator, CYC1, from the mitochondrial membrane. Also acts as a regulator of G2 checkpoint and progression to cytokinesis during mitosis.;Also regulates presynaptic plasticity, including neurotransmitter release and recovery, number of axonal mitochondria as well as size and number of synaptic vesicle clusters. During synaptic stimulation, increases ATP availability from mitochondria through regulation of mitochondrial membrane ATP synthase F(1)F(0) activity and regulates endocytic vesicle retrieval in hippocampal neurons through association with DMN1L and stimulation of its GTPase activity in synaptic vesicles. May attenuate inflammation impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785). Phosphorylated on Ser-62 by CDK1. This phosphorylation is partial in normal mitotic cells, but complete in G2-arrested cells upon DNA-damage, thus promoting subsequent apoptosis probably by triggering caspases-mediated proteolysis. Phosphorylated by PLK3, leading to regulate the G2 checkpoint and progression to cytokinesis during mitosis. Phosphorylation at Ser-49 appears during the S phase and G2, disappears rapidly in early mitosis during prometaphase, metaphase and early anaphase, and re-appears during telophase and cytokinesis.;Ubiquitinated by RNF183 during prolonged ER stress, leading to degradation by the proteosome.;Proteolytically cleaved by caspases during apoptosis. The cleaved protein, lacking the BH4 motif, has pro-apoptotic activity. Belongs to the Bcl-2 family. Apoptosis;Jak-STAT signaling pathway;Amyotrophic lateral sclerosis (ALS);Toxoplasmosis;HTLV-I infection;Pathways in cancer;Pancreatic cancer;Chronic myeloid leukemia;Small cell lung cancer;BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members;The NLRP1 inflammasome;Interleukin-4 and Interleukin-13 signaling PE1 20 +NX_Q07820 Induced myeloid leukemia cell differentiation protein Mcl-1 350 37337 5.51 1 Membrane;Cytoplasm;Nucleoplasm;Mitochondrion NA Involved in the regulation of apoptosis versus cell survival, and in the maintenance of viability but not of proliferation. Mediates its effects by interactions with a number of other regulators of apoptosis.;Promotes apoptosis.;Inhibits apoptosis. Phosphorylated on Ser-159, by GSK3, in response to IL3/interleukin-3 withdrawal. Phosphorylation at Ser-159 induces ubiquitination and proteasomal degradation, abrogating the anti-apoptotic activity. Treatment with taxol or okadaic acid induces phosphorylation on additional sites.;Cleaved by CASP3 during apoptosis. In intact cells cleavage occurs preferentially after Asp-127, yielding a pro-apoptotic 28 kDa C-terminal fragment.;Rapidly degraded in the absence of phosphorylation on Thr-163 in the PEST region.;Ubiquitinated. Ubiquitination is induced by phosphorylation at Ser-159.;MCL1 is phosphorylated by PRKCD (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the Bcl-2 family. Interleukin-4 and Interleukin-13 signaling PE1 1 +NX_Q07837 Neutral and basic amino acid transport protein rBAT 685 78852 5.61 1 Membrane;Mitochondrion;Nucleus Cystinuria;Hypotonia-cystinuria syndrome Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule. NA NA Protein digestion and absorption;Amino acid transport across the plasma membrane;Defective SLC3A1 causes cystinuria (CSNU);Defective SLC7A9 causes cystinuria (CSNU) PE1 2 +NX_Q07864 DNA polymerase epsilon catalytic subunit A 2286 261518 5.98 0 Nucleoplasm;Nucleus;Cell membrane Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency;Facial dysmorphism, immunodeficiency, livedo, and short stature;Colorectal cancer 12 Catalytic component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in chromosomal DNA replication (By similarity). Required during synthesis of the leading and lagging DNA strands at the replication fork and binds at/or near replication origins and moves along DNA with the replication fork (By similarity). Has 3'-5' proofreading exonuclease activity that correct errors arising during DNA replication (By similarity). It is also involved in DNA synthesis during DNA repair (PubMed:27573199). NA Belongs to the DNA polymerase type-B family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;DNA replication;Base excision repair;Nucleotide excision repair;HTLV-I infection;Activation of the pre-replicative complex;Termination of translesion DNA synthesis;PCNA-Dependent Long Patch Base Excision Repair;Recognition of DNA damage by PCNA-containing replication complex;Telomere C-strand synthesis initiation;DNA replication initiation;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Homologous Recombination (HRR);Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER PE1 12 +NX_Q07866 Kinesin light chain 1 573 65310 5.87 0 Cell membrane;Growth cone;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Cytoskeleton NA Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity. NA Belongs to the kinesin light chain family. Salmonella infection;MHC class II antigen presentation;Kinesins;RHO GTPases activate KTN1;COPI-dependent Golgi-to-ER retrograde traffic PE1 14 +NX_Q07869 Peroxisome proliferator-activated receptor alpha 468 52225 5.86 0 Nucleoplasm;Nucleus NA Ligand-activated transcription factor. Key regulator of lipid metabolism. Activated by the endogenous ligand 1-palmitoyl-2-oleoyl-sn-glycerol-3-phosphocholine (16:0/18:1-GPC). Activated by oleylethanolamide, a naturally occurring lipid that regulates satiety. Receptor for peroxisome proliferators such as hypolipidemic drugs and fatty acids. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the ACOX1 and P450 genes. Transactivation activity requires heterodimerization with RXRA and is antagonized by NR2C2. May be required for the propagation of clock information to metabolic pathways regulated by PER2. PPARA is phosphorylated by CDK7 Belongs to the nuclear hormone receptor family. NR1 subfamily. PPAR signaling pathway;Adipocytokine signaling pathway;Hepatitis C;PPARA activates gene expression;RORA activates gene expression;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;Nuclear Receptor transcription pathway;Activation of gene expression by SREBF (SREBP);Transcriptional regulation of white adipocyte differentiation;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);SUMOylation of intracellular receptors PE1 22 +NX_Q07889 Son of sevenless homolog 1 1333 152464 6.38 0 Cytosol Noonan syndrome 4;Fibromatosis, gingival, 1 Promotes the exchange of Ras-bound GDP by GTP (PubMed:8493579). Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3 in response to EGF (PubMed:17339331). Catalytic component of a trimeric complex that participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF) activity (By similarity). Phosphorylation at Ser-1134 and Ser-1161 by RPS6KA3 create YWHAB and YWHAE binding sites and which contribute to the negative regulation of EGF-induced MAPK1/3 phosphorylation. NA MAPK signaling pathway;ErbB signaling pathway;Chemokine signaling pathway;Dorso-ventral axis formation;Focal adhesion;Gap junction;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Neurotrophin signaling pathway;Regulation of actin cytoskeleton;Insulin signaling pathway;GnRH signaling pathway;Hepatitis C;Pathways in cancer;Renal cell carcinoma;Endometrial cancer;Glioma;Prostate cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer;RAF/MAP kinase cascade;SHC-mediated cascade:FGFR1;FRS-mediated FGFR1 signaling;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;SHC-mediated cascade:FGFR3;FRS-mediated FGFR3 signaling;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;Role of LAT2/NTAL/LAB on calcium mobilization;Interleukin receptor SHC signaling;Rho GTPase cycle;NRAGE signals death through JNK;DAP12 signaling;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;G alpha (12/13) signalling events;SHC1 events in ERBB2 signaling;SHC1 events in ERBB4 signaling;GRB2 events in ERBB2 signaling;EGFR Transactivation by Gastrin;Signaling by SCF-KIT;Regulation of KIT signaling;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;NCAM signaling for neurite out-growth;Signal attenuation;Insulin receptor signalling cascade;Tie2 Signaling;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Signalling to RAS;Activation of RAC1;SOS-mediated signalling;Downstream signal transduction;Constitutive Signaling by EGFRvIII;Signaling by FGFR4 in disease;GRB2 events in EGFR signaling;SHC1 events in EGFR signaling;SHC-related events triggered by IGF1R;GRB2:SOS provides linkage to MAPK signaling for Integrins;Signaling by FGFR3 point mutants in cancer;Signaling by FGFR3 fusions in cancer;RET signaling;MET activates RAS signaling;Interleukin-15 signaling;Activated NTRK2 signals through RAS;Activated NTRK2 signals through FRS2 and FRS3;Activated NTRK3 signals through RAS;Erythropoietin activates RAS;FLT3 Signaling PE1 2 +NX_Q07890 Son of sevenless homolog 2 1332 152979 6.39 0 Cytoplasmic vesicle;Nucleoplasm Noonan syndrome 9 Promotes the exchange of Ras-bound GDP by GTP. NA NA MAPK signaling pathway;ErbB signaling pathway;Chemokine signaling pathway;Dorso-ventral axis formation;Focal adhesion;Gap junction;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Neurotrophin signaling pathway;Regulation of actin cytoskeleton;Insulin signaling pathway;GnRH signaling pathway;Hepatitis C;Pathways in cancer;Renal cell carcinoma;Endometrial cancer;Glioma;Prostate cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events;Activation of RAC1;Interleukin-15 signaling PE1 14 +NX_Q07912 Activated CDC42 kinase 1 1038 114569 6.84 0 Clathrin-coated vesicle;Cell membrane;Adherens junction;Clathrin-coated pit;Cytoplasmic vesicle membrane;Endosome;Cytosol;Perinuclear region;Nucleus NA Non-receptor tyrosine-protein and serine/threonine-protein kinase that is implicated in cell spreading and migration, cell survival, cell growth and proliferation. Transduces extracellular signals to cytosolic and nuclear effectors. Phosphorylates AKT1, AR, MCF2, WASL and WWOX. Implicated in trafficking and clathrin-mediated endocytosis through binding to epidermal growth factor receptor (EGFR) and clathrin. Binds to both poly- and mono-ubiquitin and regulates ligand-induced degradation of EGFR, thereby contributing to the accumulation of EGFR at the limiting membrane of early endosomes. Downstream effector of CDC42 which mediates CDC42-dependent cell migration via phosphorylation of BCAR1. May be involved both in adult synaptic function and plasticity and in brain development. Activates AKT1 by phosphorylating it on 'Tyr-176'. Phosphorylates AR on 'Tyr-267' and 'Tyr-363' thereby promoting its recruitment to androgen-responsive enhancers (AREs). Phosphorylates WWOX on 'Tyr-287'. Phosphorylates MCF2, thereby enhancing its activity as a guanine nucleotide exchange factor (GEF) toward Rho family proteins. Contributes to the control of AXL receptor levels. Confers metastatic properties on cancer cells and promotes tumor growth by negatively regulating tumor suppressor such as WWOX and positively regulating pro-survival factors such as AKT1 and AR. Phosphorylates WASP (PubMed:20110370). Polyubiquitinated by NEDD4 and NEDD4L. Degradation can be induced by EGF and is lysosome-dependent (By similarity).;Autophosphorylation regulates kinase activity. Phosphorylation on Tyr-518 is required for interaction with SRC and is observed during association with clathrin-coated pits.;TNK2 is phosphorylated by HCK (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. NA PE1 3 +NX_Q07954 Prolow-density lipoprotein receptor-related protein 1 4544 504606 5.16 1 Cytoplasm;Cell membrane;Coated pit;Nucleoplasm;Cytoplasmic vesicle;Nucleus Keratosis pilaris atrophicans (Microbial infection) Functions as a receptor for Pseudomonas aeruginosa exotoxin A.;Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells. Required for early embryonic development. Involved in cellular lipid homeostasis. Involved in the plasma clearance of chylomicron remnants and activated LRPAP1 (alpha 2-macroglobulin), as well as the local metabolism of complexes between plasminogen activators and their endogenous inhibitors. May modulate cellular events, such as APP metabolism, kinase-dependent intracellular signaling, neuronal calcium signaling as well as neurotransmission (PubMed:11907044, PubMed:12888553, PubMed:12713657). Acts as an alpha-2-macroglobulin receptor (PubMed:26142438). Phosphorylated on tyrosine residues upon stimulation with PDGF. Tyrosine phosphorylation promotes interaction with SHC1.;The N-terminus is blocked.;Cleaved into a 85 kDa membrane-spanning subunit (LRP-85) and a 515 kDa large extracellular domain (LRP-515) that remains non-covalently associated. Gamma-secretase-dependent cleavage of LRP-85 releases the intracellular domain from the membrane.;Phosphorylated on serine and threonine residues. Belongs to the LDLR family. Alzheimer's disease;Malaria;Retinoid metabolism and transport;Scavenging of heme from plasma PE1 12 +NX_Q07955 Serine/arginine-rich splicing factor 1 248 27745 10.37 0 Cytoplasm;Nucleoplasm;Nucleus speckle NA Act as splicing repressors. May function as export adapter involved in mRNA nuclear export through the TAP/NXF1 pathway.;Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Can stimulate binding of U1 snRNP to a 5'-splice site-containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5'-RGAAGAAC-3' (r=A or G) or the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5'-CGAGGCG-3' motif in vitro. Three copies of the octamer constitute a powerful splicing enhancer in vitro, the ASF/SF2 splicing enhancer (ASE) which can specifically activate ASE-dependent splicing. Asymmetrically dimethylated at arginines, probably by PRMT1, methylation promotes localization to nuclear speckles.;Phosphorylated by CLK1, CLK2, CLK3 and CLK4. Phosphorylated by SRPK1 at multiple serines in its RS domain via a directional (C-terminal to N-terminal) and a dual-track mechanism incorporating both processive phosphorylation (in which the kinase stays attached to the substrate after each round of phosphorylation) and distributive phosphorylation steps (in which the kinase and substrate dissociate after each phosphorylation event). The RS domain of SRSF1 binds to a docking groove in the large lobe of the kinase domain of SRPK1 and this induces certain structural changes in SRPK1 and/or RRM 2 domain of SRSF1, allowing RRM 2 to bind the kinase and initiate phosphorylation. The cycles continue for several phosphorylation steps in a processive manner (steps 1-8) until the last few phosphorylation steps (approximately steps 9-12). During that time, a mechanical stress induces the unfolding of the beta-4 motif in RRM 2, which then docks at the docking groove of SRPK1. This also signals RRM 2 to begin to dissociate, which facilitates SRSF1 dissociation after phosphorylation is completed.;SRSF1 is phosphorylated by SRPK1 (Phosphoserine:PTM-0253);SRSF1 is phosphorylated by PRKACA;SRSF1 is phosphorylated by SRPK3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SRSF1 is phosphorylated by CLK4 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SRSF1 is phosphorylated by SRPK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SRSF1 is phosphorylated by CLK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the splicing factor SR family. Spliceosome;Herpes simplex infection;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 17 +NX_Q07960 Rho GTPase-activating protein 1 439 50436 5.85 0 Cytoplasm;Cytoplasmic vesicle NA GTPase activator for the Rho, Rac and Cdc42 proteins, converting them to the putatively inactive GDP-bound state. Cdc42 seems to be the preferred substrate. NA NA Rho GTPase cycle PE1 11 +NX_Q07973 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial 514 58875 8.94 0 Nucleoplasm;Mitochondrion;Cell membrane Hypercalcemia, infantile, 1 Has a role in maintaining calcium homeostasis. Catalyzes the adrenodoxin-dependent 24-hydroxylation of calcidiol (25-hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23-hydroxylating activity leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product. NA Belongs to the cytochrome P450 family. Vitamin D (calciferol) metabolism;Vitamins;Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) PE1 20 +NX_Q08043 Alpha-actinin-3 901 103241 5.37 0 NA NA F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. NA Belongs to the alpha-actinin family. Focal adhesion;Adherens junction;Tight junction;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Amoebiasis;Systemic lupus erythematosus;Arrhythmogenic right ventricular cardiomyopathy (ARVC);Striated Muscle Contraction;Nephrin family interactions PE1 11 +NX_Q08050 Forkhead box protein M1 763 84283 8 0 Nucleoplasm;Nucleolus;Cytosol;Nucleus NA Transcriptional factor regulating the expression of cell cycle genes essential for DNA replication and mitosis. Plays a role in the control of cell proliferation. Plays also a role in DNA breaks repair participating in the DNA damage checkpoint response. Phosphorylated in M (mitotic) phase. Phosphorylation by the checkpoint kinase CHEK2 in response to DNA damage increases the FOXM1 protein stability probably stimulating the transcription of genes involved in DNA repair. Phosphorylated by CDK1 in late S and G2 phases, creating docking sites for the POLO box domains of PLK1. Subsequently, PLK1 binds and phosphorylates FOXM1, leading to activation of transcriptional activity and subsequent enhanced expression of key mitotic regulators. NA Polo-like kinase mediated events;Cyclin A/B1/B2 associated events during G2/M transition PE1 12 +NX_Q08116 Regulator of G-protein signaling 1 209 23858 8.8 0 Cytosol;Cell membrane NA Regulates G protein-coupled receptor signaling cascades, including signaling downstream of the N-formylpeptide chemoattractant receptors and leukotriene receptors (PubMed:10480894). Inhibits B cell chemotaxis toward CXCL12 (By similarity). Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form (PubMed:10480894, PubMed:18434541). NA NA G alpha (i) signalling events;G alpha (q) signalling events PE1 1 +NX_Q08117 TLE family member 5 197 21970 5.9 0 Nucleoplasm;Nucleus NA Transcriptional corepressor. Acts as dominant repressor towards other family members. Inhibits NF-kappa-B-regulated gene expression. May be required for the initiation and maintenance of the differentiated state. Essential for the transcriptional repressor activity of SIX3 during retina and lens development. Ubiquitinated by XIAP/BIRC4. Belongs to the WD repeat Groucho/TLE family. Repression of WNT target genes PE1 19 +NX_Q08170 Serine/arginine-rich splicing factor 4 494 56678 11.52 0 Nucleus speckle NA Plays a role in alternative splice site selection during pre-mRNA splicing. Represses the splicing of MAPT/Tau exon 10. Extensively phosphorylated on serine residues in the RS domain.;SRSF4 is phosphorylated by SRPK1 (Phosphoserine:PTM-0253) Belongs to the splicing factor SR family. Spliceosome;Herpes simplex infection;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 1 +NX_Q08174 Protocadherin-1 1060 114743 4.91 1 Nucleoplasm;Cell junction;Nucleolus;Cell membrane NA May be involved in cell-cell interaction processes and in cell adhesion. NA NA NA PE1 5 +NX_Q08188 Protein-glutamine gamma-glutamyltransferase E 693 76632 5.62 0 Cytoplasm Uncombable hair syndrome 2 Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the formation of the cornified envelope (CE), a specialized component consisting of covalent cross-links of proteins beneath the plasma membrane of terminally differentiated keratinocytes. Catalyzes small proline-rich proteins (SPRR1 and SPRR2) and LOR cross-linking to form small interchain oligomers, which are further cross-linked by TGM1 onto the growing CE scaffold (By similarity). In hair follicles, involved in cross-linking structural proteins to hardening the inner root sheath. Activated by proteolytic processing. In vitro activation is commonly achieved by cleavage with dispase, a neutral bacterial protease. Dispase cleavage site was proposed to lie between Ser-470 and Ser-471 (PubMed:8099584) or between Pro-465 and Phe-466 (PubMed:16565075). Physiological activation may be catalyzed by CTSL and, to a lesser extent, by CTSS, but not by CTSB, CTSD nor CTSV (PubMed:16565075). Belongs to the transglutaminase superfamily. Transglutaminase family. NA PE1 20 +NX_Q08209 Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform 521 58688 5.58 0 Cytoplasm;Dendritic spine;Cell membrane;Nucleoplasm;Cytosol;Z line;Sarcolemma Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development;Epileptic encephalopathy, infantile or early childhood, 1 Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals (PubMed:15671020, PubMed:18838687, PubMed:19154138, PubMed:23468591). Many of the substrates contain a PxIxIT motif and/or a LxVP motif (PubMed:17498738, PubMed:17502104, PubMed:23468591, PubMed:27974827, PubMed:22343722). In response to increased Ca(2+) levels, dephosphorylates and activates phosphatase SSH1 which results in cofilin dephosphorylation (PubMed:15671020). In response to increased Ca(2+) levels following mitochondrial depolarization, dephosphorylates DNM1L inducing DNM1L translocation to the mitochondrion (PubMed:18838687). Dephosphorylates heat shock protein HSPB1 (By similarity). Dephosphorylates and activates transcription factor NFATC1 (PubMed:19154138). In response to increased Ca(2+) levels, regulates NFAT-mediated transcription probably by dephosphorylating NFAT and promoting its nuclear translocation (PubMed:26248042). Dephosphorylates and inactivates transcription factor ELK1 (PubMed:19154138). Dephosphorylates DARPP32 (PubMed:19154138). May dephosphorylate CRTC2 at 'Ser-171' resulting in CRTC2 dissociation from 14-3-3 proteins (PubMed:30611118). PPP3CA is phosphorylated by CAMK2D (Phosphoserine:PTM-0253) Belongs to the PPP phosphatase family. PP-2B subfamily. MAPK signaling pathway;Calcium signaling pathway;Oocyte meiosis;Apoptosis;Wnt signaling pathway;Axon guidance;VEGF signaling pathway;Osteoclast differentiation;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Long-term potentiation;Glutamatergic synapse;Dopaminergic synapse;Alzheimer's disease;Amyotrophic lateral sclerosis (ALS);Tuberculosis;HTLV-I infection;FCERI mediated Ca+2 mobilization;DARPP-32 events;Ca2+ pathway;CLEC7A (Dectin-1) induces NFAT activation;Calcineurin activates NFAT PE1 4 +NX_Q08211 ATP-dependent RNA helicase A 1270 140958 6.41 0 Cytoplasm;Nucleolus;Nucleoplasm;Centrosome;Nucleus NA Multifunctional ATP-dependent nucleic acid helicase that unwinds DNA and RNA in a 3' to 5' direction and that plays important roles in many processes, such as DNA replication, transcriptional activation, post-transcriptional RNA regulation, mRNA translation and RNA-mediated gene silencing (PubMed:9111062, PubMed:11416126, PubMed:12711669, PubMed:15355351, PubMed:16680162, PubMed:17531811, PubMed:20669935, PubMed:21561811, PubMed:24049074, PubMed:25062910, PubMed:24990949, PubMed:28221134). Requires a 3'-single-stranded tail as entry site for acid nuclei unwinding activities as well as the binding and hydrolyzing of any of the four ribo- or deoxyribo-nucleotide triphosphates (NTPs) (PubMed:1537828). Unwinds numerous nucleic acid substrates such as double-stranded (ds) DNA and RNA, DNA:RNA hybrids, DNA and RNA forks composed of either partially complementary DNA duplexes or DNA:RNA hybrids, respectively, and also DNA and RNA displacement loops (D- and R-loops), triplex-helical DNA (H-DNA) structure and DNA and RNA-based G-quadruplexes (PubMed:20669935, PubMed:21561811, PubMed:24049074). Binds dsDNA, single-stranded DNA (ssDNA), dsRNA, ssRNA and poly(A)-containing RNA (PubMed:9111062, PubMed:10198287). Binds also to circular dsDNA or dsRNA of either linear and/or circular forms and stimulates the relaxation of supercoiled DNAs catalyzed by topoisomerase TOP2A (PubMed:12711669). Plays a role in DNA replication at origins of replication and cell cycle progression (PubMed:24990949). Plays a role as a transcriptional coactivator acting as a bridging factor between polymerase II holoenzyme and transcription factors or cofactors, such as BRCA1, CREBBP, RELA and SMN1 (PubMed:11149922, PubMed:9323138, PubMed:9662397, PubMed:11038348, PubMed:11416126, PubMed:15355351, PubMed:28221134). Binds to the CDKN2A promoter (PubMed:11038348). Plays several roles in post-transcriptional regulation of gene expression (PubMed:28221134, PubMed:28355180). In cooperation with NUP98, promotes pre-mRNA alternative splicing activities of a subset of genes (PubMed:11402034, PubMed:16680162, PubMed:28221134, PubMed:28355180). As component of a large PER complex, is involved in the negative regulation of 3' transcriptional termination of circadian target genes such as PER1 and NR1D1 and the control of the circadian rhythms (By similarity). Acts also as a nuclear resolvase that is able to bind and neutralize harmful massive secondary double-stranded RNA structures formed by inverted-repeat Alu retrotransposon elements that are inserted and transcribed as parts of genes during the process of gene transposition (PubMed:28355180). Involved in the positive regulation of nuclear export of constitutive transport element (CTE)-containing unspliced mRNA (PubMed:9162007, PubMed:10924507, PubMed:11402034). Component of the coding region determinant (CRD)-mediated complex that promotes cytoplasmic MYC mRNA stability (PubMed:19029303). Plays a role in mRNA translation (PubMed:28355180). Positively regulates translation of selected mRNAs through its binding to post-transcriptional control element (PCE) in the 5'-untranslated region (UTR) (PubMed:16680162). Involved with LARP6 in the translation stimulation of type I collagen mRNAs for CO1A1 and CO1A2 through binding of a specific stem-loop structure in their 5'-UTRs (PubMed:22190748). Stimulates LIN28A-dependent mRNA translation probably by facilitating ribonucleoprotein remodeling during the process of translation (PubMed:21247876). Plays also a role as a small interfering (siRNA)-loading factor involved in the RNA-induced silencing complex (RISC) loading complex (RLC) assembly, and hence functions in the RISC-mediated gene silencing process (PubMed:17531811). Binds preferentially to short double-stranded RNA, such as those produced during rotavirus intestinal infection (PubMed:28636595). This interaction may mediate NLRP9 inflammasome activation and trigger inflammatory response, including IL18 release and pyroptosis (PubMed:28636595). Finally, mediates the attachment of heterogeneous nuclear ribonucleoproteins (hnRNPs) to actin filaments in the nucleus (PubMed:11687588).;(Microbial infection) Plays a role in HIV-1 replication and virion infectivity (PubMed:11096080, PubMed:19229320, PubMed:25149208, PubMed:27107641). Enhances HIV-1 transcription by facilitating the binding of RNA polymerase II holoenzyme to the proviral DNA (PubMed:11096080, PubMed:25149208). Binds (via DRBM domain 2) to the HIV-1 TAR RNA and stimulates HIV-1 transcription of transactivation response element (TAR)-containing mRNAs (PubMed:9892698, PubMed:11096080). Involved also in HIV-1 mRNA splicing and transport (PubMed:25149208). Positively regulates HIV-1 gag mRNA translation, through its binding to post-transcriptional control element (PCE) in the 5'-untranslated region (UTR) (PubMed:16680162). Binds (via DRBM domains) to a HIV-1 double-stranded RNA region of the primer binding site (PBS)-segment of the 5'-UTR, and hence stimulates DHX9 incorporation into virions and virion infectivity (PubMed:27107641). Plays also a role as a cytosolic viral MyD88-dependent DNA and RNA sensors in plasmacytoid dendritic cells (pDCs), and hence induce antiviral innate immune responses (PubMed:20696886, PubMed:21957149). Binds (via the OB-fold region) to viral single-stranded DNA unmethylated C-phosphate-G (CpG) oligonucleotide (PubMed:20696886). Phosphorylated by PRKDC; phosphorylation occurs in a RNA-dependent manner (PubMed:14704337). Phosphorylated by EIF2AK2/PKR; this phosphorylation reduces its association with double-stranded RNA (PubMed:19229320).;Methylated (PubMed:15084609). PRMT1-mediated methylation of undefined Arg residues in the RGG region is required for nuclear import of DHX9 (PubMed:15084609). Belongs to the DEAD box helicase family. DEAH subfamily. mRNA Splicing - Major Pathway;RIP-mediated NFkB activation via ZBP1;DEx/H-box helicases activate type I IFN and inflammatory cytokines production PE1 1 +NX_Q08257 Quinone oxidoreductase 329 35207 8.56 0 Cytoplasm;Cytosol NA Does not have alcohol dehydrogenase activity. Binds NADP and acts through a one-electron transfer process. Orthoquinones, such as 1,2-naphthoquinone or 9,10-phenanthrenequinone, are the best substrates (in vitro). May act in the detoxification of xenobiotics. Interacts with (AU)-rich elements (ARE) in the 3'-UTR of target mRNA species. Enhances the stability of mRNA coding for BCL2. NADPH binding interferes with mRNA binding. NA Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily. NA PE1 1 +NX_Q08289 Voltage-dependent L-type calcium channel subunit beta-2 660 73581 8.11 0 Spindle;Sarcolemma;Cytoskeleton Brugada syndrome 4 The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. Regulated through phosphorylation at Thr-554 by CaMK2D.;CACNB2 is phosphorylated by CAMK2D (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the calcium channel beta subunit family. MAPK signaling pathway;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;NCAM1 interactions;Adrenaline,noradrenaline inhibits insulin secretion;Presynaptic depolarization and calcium channel opening;Regulation of insulin secretion;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 10 +NX_Q08334 Interleukin-10 receptor subunit beta 325 36995 5.03 1 Membrane;Cytosol Inflammatory bowel disease 25 Shared cell surface receptor required for the activation of five class 2 cytokines: IL10, IL22, IL26, IL28, and IFNL1. The IFNLR1/IL10RB dimer is a receptor for the cytokine ligands IFNL2 and IFNL3 and mediates their antiviral activity. The ligand/receptor complex stimulate the activation of the JAK/STAT signaling pathway leading to the expression of IFN-stimulated genes (ISG), which contribute to the antiviral state. NA Belongs to the type II cytokine receptor family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Toxoplasmosis;Tuberculosis;Interleukin-20 family signaling;Interleukin-10 signaling;Other interleukin signaling PE1 21 +NX_Q08345 Epithelial discoidin domain-containing receptor 1 913 101128 6.38 1 Nucleoplasm;Cell junction;Secreted;Cell membrane NA Tyrosine kinase that functions as cell surface receptor for fibrillar collagen and regulates cell attachment to the extracellular matrix, remodeling of the extracellular matrix, cell migration, differentiation, survival and cell proliferation. Collagen binding triggers a signaling pathway that involves SRC and leads to the activation of MAP kinases. Regulates remodeling of the extracellular matrix by up-regulation of the matrix metalloproteinases MMP2, MMP7 and MMP9, and thereby facilitates cell migration and wound healing. Required for normal blastocyst implantation during pregnancy, for normal mammary gland differentiation and normal lactation. Required for normal ear morphology and normal hearing (By similarity). Promotes smooth muscle cell migration, and thereby contributes to arterial wound healing. Also plays a role in tumor cell invasion. Phosphorylates PTPN11. Glycosylation of Asn-211, but apparently not of Asn-260 or Asn-394, prevents autophosphorylation from occurring in the absence of collagen.;Autophosphorylated in response to fibrillar collagen binding. Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. Non-integrin membrane-ECM interactions PE1 6 +NX_Q08357 Sodium-dependent phosphate transporter 2 652 70392 6.09 12 Cytoplasm;Cell membrane Basal ganglia calcification, idiopathic, 1 Sodium-phosphate symporter which seems to play a fundamental housekeeping role in phosphate transport by absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. In vitro, sodium-dependent phosphate uptake is not significantly affected by acidic and alkaline conditions, however sodium-independent phosphate uptake occurs at acidic conditions. May play a role in extracellular matrix, cartilage and vascular calcification. Functions as a retroviral receptor and confers human cells susceptibility to infection to amphotropic murine leukemia virus (A-MuLV), 10A1 murine leukemia virus (10A1 MLV) and some feline leukemia virus subgroup B (FeLV-B) variants. NA Belongs to the inorganic phosphate transporter (PiT) (TC 2.A.20) family. Sodium-coupled phosphate cotransporters;Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) PE1 8 +NX_Q08378 Golgin subfamily A member 3 1498 167355 5.34 0 Golgi stack membrane;Nucleoplasm;Golgi apparatus;Cytoplasm NA Golgi auto-antigen; probably involved in maintaining Golgi structure. Cleaved by caspases in apoptotic cells. NA NA PE1 12 +NX_Q08379 Golgin subfamily A member 2 1002 113086 5 0 Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment membrane;Spindle pole;cis-Golgi network membrane NA Peripheral membrane component of the cis-Golgi stack that acts as a membrane skeleton that maintains the structure of the Golgi apparatus, and as a vesicle thether that facilitates vesicle fusion to the Golgi membrane (Probable) (PubMed:16489344). Required for normal protein transport from the endoplasmic reticulum to the Golgi apparatus and the cell membrane (By similarity). Together with p115/USO1 and STX5, involved in vesicle tethering and fusion at the cis-Golgi membrane to maintain the stacked and inter-connected structure of the Golgi apparatus. Plays a central role in mitotic Golgi disassembly: phosphorylation at Ser-37 by CDK1 at the onset of mitosis inhibits the interaction with p115/USO1, preventing tethering of COPI vesicles and thereby inhibiting transport through the Golgi apparatus during mitosis (By similarity). Also plays a key role in spindle pole assembly and centrosome organization (PubMed:26165940). Promotes the mitotic spindle pole assembly by activating the spindle assembly factor TPX2 to nucleate microtubules around the Golgi and capture them to couple mitotic membranes to the spindle: upon phosphorylation at the onset of mitosis, GOLGA2 interacts with importin-alpha via the nuclear localization signal region, leading to recruit importin-alpha to the Golgi membranes and liberate the spindle assembly factor TPX2 from importin-alpha. TPX2 then activates AURKA kinase and stimulates local microtubule nucleation. Upon filament assembly, nascent microtubules are further captured by GOLGA2, thus linking Golgi membranes to the spindle (PubMed:19242490, PubMed:26165940). Regulates the meiotic spindle pole assembly, probably via the same mechanism (By similarity). Also regulates the centrosome organization (PubMed:18045989, PubMed:19109421). Also required for the Golgi ribbon formation and glycosylation of membrane and secretory proteins (PubMed:16489344, PubMed:17314401). Cleaved by caspases at the onset of apoptosis.;Phosphorylated at Ser-37 by CDK1 at the onset of mitosis, inhibiting the interaction with p115/USO1 and triggering Golgi disassembly (PubMed:20421892, PubMed:26165940). Phosphorylated at Ser-37 in prophase as the Golgi complex starts to break down, and remains phosphorylated during further breakdown and partitioning of the Golgi fragments in metaphase and anaphase. In telophase, GM130 is dephosphorylated by PP2A as the Golgi fragments start to reassemble (By similarity).;Methylation by PRMT5 is required for Golgi ribbon formation. While dimethylation at Arg-30 and Arg-35 are confirmed in vivo, it is unclear whether Arg-18 is methylated in vivo. Belongs to the GOLGA2 family. Golgi Cisternae Pericentriolar Stack Reorganization;COPII-mediated vesicle transport;COPI-mediated anterograde transport;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models PE1 9 +NX_Q08380 Galectin-3-binding protein 585 65331 5.13 0 Extracellular matrix;Secreted NA Promotes integrin-mediated cell adhesion. May stimulate host defense against viruses and tumor cells. NA NA Platelet degranulation PE1 17 +NX_Q08397 Lysyl oxidase homolog 1 574 63110 7.25 0 Endoplasmic reticulum;Extracellular space Exfoliation syndrome Active on elastin and collagen substrates. The lysine tyrosylquinone cross-link (LTQ) is generated by condensation of the epsilon-amino group of a lysine with a topaquinone produced by oxidation of tyrosine. Belongs to the lysyl oxidase family. Elastic fibre formation;Crosslinking of collagen fibrils PE1 15 +NX_Q08426 Peroxisomal bifunctional enzyme 723 79495 9.24 0 Peroxisome Fanconi renotubular syndrome 3 NA Acetylated, leading to enhanced enzyme activity. Acetylation is enhanced by up to 80% after treatment either with trichostin A (TSA) or with nicotinamide (NAM) with highest increase on Lys-346. Acetylation and enzyme activity increased by about 1.5% on addition of fatty acids. In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.;In the C-terminal section; belongs to the 3-hydroxyacyl-CoA dehydrogenase family. Lipid metabolism; fatty acid beta-oxidation.;Fatty acid metabolism;Valine, leucine and isoleucine degradation;Lysine degradation;Tryptophan metabolism;beta-Alanine metabolism;Propanoate metabolism;Butanoate metabolism;Metabolic pathways;PPAR signaling pathway;Peroxisome;Beta-oxidation of very long chain fatty acids;Peroxisomal protein import PE1 3 +NX_Q08431 Lactadherin 387 43105 8.47 0 Cytoplasm;Secreted;Membrane;Cytosol;Nucleus NA Medin is the main constituent of aortic medial amyloid.;Plays an important role in the maintenance of intestinal epithelial homeostasis and the promotion of mucosal healing. Promotes VEGF-dependent neovascularization (By similarity). Contributes to phagocytic removal of apoptotic cells in many tissues. Specific ligand for the alpha-v/beta-3 and alpha-v/beta-5 receptors. Also binds to phosphatidylserine-enriched cell surfaces in a receptor-independent manner. Zona pellucida-binding protein which may play a role in gamete interaction. Medin has a ragged N-terminus with minor species starting at Pro-264 and Gly-273. NA Amyloid fiber formation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 15 +NX_Q08462 Adenylate cyclase type 2 1091 123603 8.4 12 Membrane;Cytoplasm;Cell membrane NA Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling (PubMed:15385642). Down-stream signaling cascades mediate changes in gene expression patterns and lead to increased IL6 production. Functions in signaling cascades downstream of the muscarinic acetylcholine receptors (By similarity). Phosphorylated by RAF1. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Calcium signaling pathway;Chemokine signaling pathway;Oocyte meiosis;Vascular smooth muscle contraction;Gap junction;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Bile secretion;HTLV-I infection;Dilated cardiomyopathy;G alpha (i) signalling events;G alpha (s) signalling events;Hedgehog 'off' state;PKA activation;PKA activation in glucagon signalling;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G alpha (z) signalling events;Adenylate cyclase activating pathway;Adenylate cyclase inhibitory pathway PE1 5 +NX_Q08477 Cytochrome P450 4F3 520 59847 7.57 1 Microsome membrane;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids and their oxygenated derivatives (oxylipins) (PubMed:8486631, PubMed:9675028, PubMed:11461919, PubMed:15145985, PubMed:16547005, PubMed:16820285, PubMed:18182499, PubMed:18065749, PubMed:18577768). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). May play a role in inactivation of proinflammatory and anti-inflammatory oxylipins during the resolution of inflammation (PubMed:8486631, PubMed:9675028, PubMed:11461919, PubMed:15145985, PubMed:15364545, PubMed:16547005, PubMed:16820285, PubMed:18182499, PubMed:18065749, PubMed:18577768).;Catalyzes predominantly the oxidation of the terminal carbon (omega-oxidation) of oxylipins in myeloid cells, displaying higher affinity for arachidonate metabolite leukotriene B4 (LTB4) (PubMed:8486631, PubMed:9675028, PubMed:11461919, PubMed:15364545). Inactivates LTB4 via three successive oxidative transformations to 20-hydroxy-LTB4, then to 20-oxo-LTB4 and to 20-carboxy-LTB4 (PubMed:9675028). Exhibits omega-hydroxylase activity toward long-chain fatty acid epoxides with preference for 8,9-epoxy-(5Z,11Z,14Z)-eicosatrienoate (EET) and 9,10-epoxyoctadecanoate (PubMed:15145985). Omega-hydroxylates monohydroxy polyunsaturated fatty acids (PUFAs), including hydroxyeicosatetraenoates (HETEs) and hydroxyeicosapentaenoates (HEPEs), to dihydroxy compounds (PubMed:15364545, PubMed:9675028). Contributes to the degradation of saturated very long-chain fatty acids (VLCFAs) such as docosanoic acid, by catalyzing successive omega-oxidations to the corresponding dicarboxylic acid, thereby initiating chain shortening (PubMed:18182499). Has low hydroxylase activity toward PUFAs (PubMed:18577768, PubMed:11461919).;Catalyzes predominantly the oxidation of the terminal carbon (omega-oxidation) of polyunsaturated fatty acids (PUFAs) (PubMed:11461919, PubMed:16820285, PubMed:18577768). Participates in the conversion of arachidonic acid to 20-hydroxyeicosatetraenoic acid (20-HETE), a signaling molecule acting both as vasoconstrictive and natriuretic with overall effect on arterial blood pressure (PubMed:11461919, PubMed:16820285, PubMed:18577768). Exhibits high omega-hydroxylase activity toward other PUFAs, including eicosatrienoic acid (ETA), eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) (PubMed:16820285, PubMed:18577768). Can also catalyze the oxidation of the penultimate carbon (omega-1 oxidation) of PUFAs with lower efficiency (PubMed:18577768). Contributes to the degradation of saturated very long-chain fatty acids (VLCFAs) such as docosanoic acid and hexacosanoic acid, by catalyzing successive omega-oxidations and to the corresponding dicarboxylic acids, thereby initiating chain shortening (PubMed:16547005, PubMed:18182499). Omega-hydroxylates long-chain 3-hydroxy fatty acids, likely initiating the oxidative conversion to the corresponding 3-hydroxydicarboxylic fatty acids (PubMed:18065749). Has omega-hydroxylase activity toward long-chain fatty acid epoxides with preference for 8,9-epoxy-(5Z,11Z,14Z)-eicosatrienoate (EET) and 9,10-epoxyoctadecanoate (PubMed:15145985). Has lower affinity for leukotriene B4 (LTB4) compared with CYP4F3A, yet may contribute to the inactivation of LTB4 in liver (PubMed:15145985). NA Belongs to the cytochrome P450 family. Lipid metabolism; arachidonate metabolism.;Lipid metabolism; leukotriene B4 degradation.;Arachidonic acid metabolism;Metabolic pathways;Miscellaneous substrates;Fatty acids;Eicosanoids;Synthesis of Leukotrienes (LT) and Eoxins (EX) PE1 19 +NX_Q08493 cAMP-specific 3',5'-cyclic phosphodiesterase 4C 712 79902 5.06 0 Cilium NA Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. NA Belongs to the cyclic nucleotide phosphodiesterase family. PDE4 subfamily. Purine metabolism; 3',5'-cyclic AMP degradation; AMP from 3',5'-cyclic AMP: step 1/1.;Purine metabolism;G alpha (s) signalling events;DARPP-32 events PE1 19 +NX_Q08495 Dematin 405 45514 8.94 0 Cytoplasm;Cell membrane;Endomembrane system;Cell projection;Membrane;Cytosol;Perinuclear region;Cytoskeleton NA Membrane-cytoskeleton-associated protein with F-actin-binding activity that induces F-actin bundles formation and stabilization. Its F-actin-bundling activity is reversibly regulated upon its phosphorylation by the cAMP-dependent protein kinase A (PKA). Binds to the erythrocyte membrane glucose transporter-1 SLC2A1/GLUT1, and hence stabilizes and attaches the spectrin-actin network to the erythrocytic plasma membrane. Plays a role in maintaining the functional integrity of PKA-activated erythrocyte shape and the membrane mechanical properties. Plays also a role as a modulator of actin dynamics in fibroblasts; acts as a negative regulator of the RhoA activation pathway. In platelets, functions as a regulator of internal calcium mobilization across the dense tubular system that affects platelet granule secretion pathways and aggregation. Also required for the formation of a diverse set of cell protrusions, such as filopodia and lamellipodia, necessary for platelet cell spreading, motility and migration. Acts as a tumor suppressor and inhibits malignant cell transformation. The N-terminus is blocked.;Phosphorylated. Phosphorylation at Ser-403 by PKA causes the C-terminal headpiece domain to associate with the N-terminal core domain, and leads to the inhibition of its actin bundling activity. Belongs to the villin/gelsolin family. Miscellaneous transport and binding events PE1 8 +NX_Q08499 cAMP-specific 3',5'-cyclic phosphodiesterase 4D 809 91115 5.31 0 Cytoplasm;Cell membrane;Membrane;Centrosome;Cytosol;Apical cell membrane;Cytoskeleton Acrodysostosis 2, with or without hormone resistance Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. Sumoylation of long isoforms by PIAS4 augments their activation by PKA phosphorylation and represses their inhibition by ERK phosphorylation.;Are phosphorylated on Ser-49, Ser-51, Ser-55 and Ser-59.;Are activated by phosphorylation (in vitro), but not isoform 6.;Long isoforms that share a conserved PKA phosphorylation site in the N-terminus are activated by PKA through phosphorylation (By similarity). Belongs to the cyclic nucleotide phosphodiesterase family. PDE4 subfamily. Purine metabolism; 3',5'-cyclic AMP degradation; AMP from 3',5'-cyclic AMP: step 1/1.;Purine metabolism;G alpha (s) signalling events;DARPP-32 events PE1 5 +NX_Q08554 Desmocollin-1 894 99987 5.25 1 Desmosome;Cell membrane NA Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. Linked to the keratinization of epithelial tissues. NA NA Neutrophil degranulation;Formation of the cornified envelope;Keratinization PE1 18 +NX_Q08623 Pseudouridine-5'-phosphatase 228 25249 5.18 0 NA NA Dephosphorylates pseudouridine 5'-phosphate, a potential intermediate in rRNA degradation. Pseudouridine is then excreted intact in urine. NA Belongs to the HAD-like hydrolase superfamily. CbbY/CbbZ/Gph/YieH family. Pyrimidine salvage PE1 X +NX_Q08629 Testican-1 439 49124 5.74 0 Cytoplasmic vesicle;Extracellular matrix NA May play a role in cell-cell and cell-matrix interactions. May contribute to various neuronal mechanisms in the central nervous system. O-glycosylated. Glycosaminoglycan that contains chondroitin sulfate and heparan sulfate. NA NA PE1 5 +NX_Q08648 Sperm-associated antigen 11B 103 11431 11.49 0 Secreted NA May have antimicrobial activity. May also play a role sperm maturation, storage, and protection. NA Belongs to the SPAG11 family. NA PE1 8 +NX_Q08708 CMRF35-like molecule 6 224 24830 9.38 1 Golgi apparatus;Mitochondrion;Cell membrane;Cytoplasmic vesicle NA NA NA Belongs to the CD300 family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 17 +NX_Q08722 Leukocyte surface antigen CD47 323 35214 6.82 5 Cytoplasmic vesicle;Cell membrane NA Has a role in both cell adhesion by acting as an adhesion receptor for THBS1 on platelets, and in the modulation of integrins. Plays an important role in memory formation and synaptic plasticity in the hippocampus (By similarity). Receptor for SIRPA, binding to which prevents maturation of immature dendritic cells and inhibits cytokine production by mature dendritic cells. Interaction with SIRPG mediates cell-cell adhesion, enhances superantigen-dependent T-cell-mediated proliferation and costimulates T-cell activation. May play a role in membrane transport and/or integrin dependent signal transduction. May prevent premature elimination of red blood cells. May be involved in membrane permeability changes induced following virus infection. NA NA ECM-receptor interaction;Integrin cell surface interactions;Cell surface interactions at the vascular wall;Signal regulatory protein family interactions;Neutrophil degranulation PE1 3 +NX_Q08752 Peptidyl-prolyl cis-trans isomerase D 370 40764 6.77 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleolus NA (Microbial infection) May be involved in hepatitis C virus (HCV) replication and release.;PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:11350175, PubMed:20676357). Proposed to act as a co-chaperone in HSP90 complexes such as in unligated steroid receptors heterocomplexes. Different co-chaperones seem to compete for association with HSP90 thus establishing distinct HSP90-co-chaperone-receptor complexes with the potential to exert tissue-specific receptor activity control. May have a preference for estrogen receptor complexes and is not found in glucocorticoid receptor complexes. May be involved in cytoplasmic dynein-dependent movement of the receptor from the cytoplasm to the nucleus. May regulate MYB by inhibiting its DNA-binding activity. Involved in regulation of AHR signaling by promoting the formation of the AHR:ARNT dimer; the function is independent of HSP90 but requires the chaperone activity. Involved in regulation of UV radiation-induced apoptosis. Promotes cell viability in anaplastic lymphoma kinase-positive anaplastic large-cell lymphoma (ALK+ ALCL) cell lines. NA Belongs to the cyclophilin-type PPIase family. PPIase D subfamily. Calcium signaling pathway;Parkinson's disease;Huntington's disease;ESR-mediated signaling PE1 4 +NX_Q08828 Adenylate cyclase type 1 1119 123440 8.77 12 Cytoplasm;Mitochondrion;Cell membrane;Membrane;Membrane raft Deafness, autosomal recessive, 44 Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Mediates responses to increased cellular Ca(2+)/calmodulin levels (By similarity). May be involved in regulatory processes in the central nervous system. May play a role in memory and learning. Plays a role in the regulation of the circadian rhythm of daytime contrast sensitivity probably by modulating the rhythmic synthesis of cyclic AMP in the retina (By similarity). N-glycosylated. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Calcium signaling pathway;Chemokine signaling pathway;Oocyte meiosis;Vascular smooth muscle contraction;Gap junction;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Bile secretion;Chagas disease (American trypanosomiasis);Amoebiasis;HTLV-I infection;G alpha (i) signalling events;G alpha (s) signalling events;Hedgehog 'off' state;PKA activation;PKA activation in glucagon signalling;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G alpha (z) signalling events;CREB1 phosphorylation through the activation of Adenylate Cyclase;Adenylate cyclase activating pathway;Adenylate cyclase inhibitory pathway PE1 7 +NX_Q08830 Fibrinogen-like protein 1 312 36379 5.58 0 Secreted NA Immune suppressive molecule that inhibits antigen-specific T-cell activation by acting as a major ligand of LAG3 (PubMed:30580966). Responsible for LAG3 T-cell inhibitory function (PubMed:30580966). Binds LAG3 independently from MHC class II (MHC-II) (PubMed:30580966). Secreted by, and promotes growth of, hepatocytes (PubMed:11470158, PubMed:19880967). NA NA NA PE1 8 +NX_Q08881 Tyrosine-protein kinase ITK/TSK 620 71831 7.51 0 Cytoplasm;Nucleus Lymphoproliferative syndrome 1 Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. When antigen presenting cells (APC) activate T-cell receptor (TCR), a series of phosphorylation lead to the recruitment of ITK to the cell membrane, in the vicinity of the stimulated TCR receptor, where it is phosphorylated by LCK. Phosphorylation leads to ITK autophosphorylation and full activation. Once activated, phosphorylates PLCG1, leading to the activation of this lipase and subsequent cleavage of its substrates. In turn, the endoplasmic reticulum releases calcium in the cytoplasm and the nuclear activator of activated T-cells (NFAT) translocates into the nucleus to perform its transcriptional duty. Phosphorylates 2 essential adapter proteins: the linker for activation of T-cells/LAT protein and LCP2. Then, a large number of signaling molecules such as VAV1 are recruited and ultimately lead to lymphokine production, T-cell proliferation and differentiation (PubMed:12186560, PubMed:12682224, PubMed:21725281). Phosphorylates TBX21 at 'Tyr-530' and mediates its interaction with GATA3 (By similarity). Phosphorylated at Tyr-512 in the activation loop of the kinase domain by LCK. Subsequent autophosphorylation at Tyr-180 leads to the kinase activation. The autophosphorylated Tyr-180 lies within the substrate binding sequence of the SH3 domain.;Ubiquitinated.;ITK is phosphorylated by PRKCG (Phosphoserine,Phosphothreonine:PTM-0253,PTM-0254);ITK is phosphorylated by PRKCB (Phosphoserine,Phosphothreonine:PTM-0253,PTM-0254);ITK is phosphorylated by PRKCA (Phosphoserine,Phosphothreonine:PTM-0253,PTM-0254) Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily. Chemokine signaling pathway;T cell receptor signaling pathway;Leukocyte transendothelial migration;Generation of second messenger molecules;FCERI mediated Ca+2 mobilization PE1 5 +NX_Q08945 FACT complex subunit SSRP1 709 81075 6.45 0 Nucleolus;Chromosome;Nucleoplasm;Cytosol;Nucleus NA Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from the nucleosome, then subsequently promotes the reestablishment of the nucleosome following the passage of RNA polymerase II. The FACT complex is probably also involved in phosphorylation of 'Ser-392' of p53/TP53 via its association with CK2 (casein kinase II). Binds specifically to double-stranded DNA and at low levels to DNA modified by the antitumor agent cisplatin. May potentiate cisplatin-induced cell death by blocking replication and repair of modified DNA. Also acts as a transcriptional coactivator for p63/TP63. Phosphorylated by CK2 following UV but not gamma irradiation. Phosphorylation inhibits its DNA-binding activity.;Ubiquitinated. Polyubiquitinated following caspase cleavage resulting in degradation of the N-terminal ubiquitinated part of the cleaved protein.;Sumoylated. Belongs to the SSRP1 family. Formation of RNA Pol II elongation complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;TP53 Regulates Transcription of DNA Repair Genes;Regulation of TP53 Activity through Phosphorylation PE1 11 +NX_Q08999 Retinoblastoma-like protein 2 1139 128367 7.27 0 Nucleoplasm;Nucleus;Nucleolus;Cytosol NA Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated trans-activation, associates preferentially with E2F5. Binds to cyclins A and E. Binds to and may be involved in the transforming capacity of the adenovirus E1A protein. May act as a tumor suppressor. During G0 and early G1 phase of the cell cycle, phosphorylated on Ser-639 and on 5 sites within the domain B. Phosphorylation on Ser-672 in G1 leads to its ubiquitin-dependent proteolysis. Belongs to the retinoblastoma protein (RB) family. Cell cycle;TGF-beta signaling pathway;G0 and Early G1;G1/S-Specific Transcription;Cyclin E associated events during G1/S transition;Cyclin A:Cdk2-associated events at S phase entry;Cyclin D associated events in G1;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;Transcription of E2F targets under negative control by DREAM complex;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1;FOXO-mediated transcription of cell cycle genes PE1 16 +NX_Q08AD1 Calmodulin-regulated spectrin-associated protein 2 1489 168089 6.36 0 Golgi apparatus;Cytosol;Cytoskeleton NA Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:23169647, PubMed:24486153, PubMed:24706919). Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization (PubMed:24486153, PubMed:24706919). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153, PubMed:24706919). In addition, it also reduces the velocity of microtubule polymerization (PubMed:24486153, PubMed:24706919). Through the microtubule cytoskeleton, also regulates the organization of cellular organelles including the Golgi and the early endosomes (PubMed:27666745). Essential for the tethering, but not for nucleation of non-centrosomal microtubules at the Golgi: together with Golgi-associated proteins AKAP9 and PDE4DIP, required to tether non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745). Also acts as a regulator of neuronal polarity and development: localizes to non-centrosomal microtubule minus-ends in neurons and stabilizes non-centrosomal microtubules, which is required for neuronal polarity, axon specification and dendritic branch formation (PubMed:24908486). Through the microtubule cytoskeleton, regulates the autophagosome transport (PubMed:28726242). NA Belongs to the CAMSAP1 family. NA PE1 1 +NX_Q08AE8 Protein spire homolog 1 756 85544 8.89 0 Cell membrane;Cytoplasmic vesicle membrane;Endosome;Nucleoplasm;Cytosol;Perinuclear region;Cytoskeleton NA Acts as an actin nucleation factor, remains associated with the slow-growing pointed end of the new filament (PubMed:11747823, PubMed:21620703). Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport (PubMed:11747823). Required for asymmetric spindle positioning and asymmetric cell division during meiosis (PubMed:21620703). Required for normal formation of the cleavage furrow and for polar body extrusion during female germ cell meiosis (PubMed:21620703). Also acts in the nucleus: together with FMN2, promotes assembly of nuclear actin filaments in response to DNA damage in order to facilitate movement of chromatin and repair factors after DNA damage (PubMed:26287480). NA Belongs to the spire family. Dorso-ventral axis formation PE1 18 +NX_Q08AF3 Schlafen family member 5 891 101055 8.54 0 Cytoplasmic vesicle;Nucleoplasm NA May have a role in hematopoietic cell differentiation. NA Belongs to the Schlafen family. Subgroup III subfamily. NA PE1 17 +NX_Q08AF8 Putative golgin subfamily A member 8F/8G 430 48405 5.41 0 NA NA NA NA Belongs to the GOLGA8 family. NA PE5 15 +NX_Q08AG5 Zinc finger protein 844 666 76934 9.14 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q08AG7 Mitotic-spindle organizing protein 1 82 8479 4.76 0 Spindle;Centrosome NA Required for gamma-tubulin complex recruitment to the centrosome. NA Belongs to the MOZART1 family. Recruitment of mitotic centrosome proteins and complexes;Recruitment of NuMA to mitotic centrosomes PE1 13 +NX_Q08AH1 Acyl-coenzyme A synthetase ACSM1, mitochondrial 577 65273 8.54 0 Mitochondrion matrix;Mitochondrion NA Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (PubMed:10434065). Capable of activating medium-chain fatty acids (e.g. Butyric (C4) to decanoic (C10) acids), and certain carboxylate-containing xenobiotics, e.g. Benzoate (PubMed:10434065). Also catalyzes the activation of lipoate to lipoyl-nucleoside monophosphate (By similarity). Activates lipoate with GTP at a 1000-fold higher rate than with ATP and activates both (R)- and (S)-lipoate to the respective lipoyl-GMP, with a preference for (R)-lipoate (By similarity). NA Belongs to the ATP-dependent AMP-binding enzyme family. Butanoate metabolism;Metabolic pathways;Conjugation of benzoate with glycine;Conjugation of phenylacetate with glutamine PE1 16 +NX_Q08AH3 Acyl-coenzyme A synthetase ACSM2A, mitochondrial 577 64223 8.34 0 Mitochondrion NA Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (By similarity). Capable of activating medium-chain fatty acids (e.g. Butyric (C4) to decanoic (C10) acids), and certain carboxylate-containing xenobiotics, e.g. Benzoate (By similarity). NA Belongs to the ATP-dependent AMP-binding enzyme family. Butanoate metabolism;Metabolic pathways;Conjugation of salicylate with glycine PE1 16 +NX_Q08AI6 Putative sodium-coupled neutral amino acid transporter 11 406 44825 6.12 10 Membrane NA Putative sodium-dependent amino acid/proton antiporter. NA Belongs to the amino acid/polyamine transporter 2 family. NA PE2 2 +NX_Q08AI8 Protein mab-21-like 4 447 49565 6.02 0 Golgi apparatus;Nucleoplasm NA NA NA NA NA PE1 2 +NX_Q08AM6 Protein VAC14 homolog 782 87973 5.76 0 Microsome membrane;Cytoplasmic vesicle;Cytosol;Endosome membrane Striatonigral degeneration, childhood-onset The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes. NA Belongs to the VAC14 family. HTLV-I infection;Synthesis of PIPs at the Golgi membrane;Synthesis of PIPs at the early endosome membrane;Synthesis of PIPs at the late endosome membrane PE1 16 +NX_Q08AN1 Zinc finger protein 616 781 90273 9.66 0 Centrosome;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q08E93 Protein FAM27E3 113 13507 11.89 0 NA NA NA NA Belongs to the FAM27 family. NA PE1 9 +NX_Q08ER8 Zinc finger protein 543 600 68404 8.18 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q08ET2 Sialic acid-binding Ig-like lectin 14 396 43970 8.24 1 Cell membrane NA Putative adhesion molecule. Sialic acid-binding paired receptor which may activate associated receptors. NA Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. DAP12 interactions;Neutrophil degranulation PE1 19 +NX_Q08J23 RNA cytosine C(5)-methyltransferase NSUN2 767 86471 6.33 0 Extracellular exosome;Cytoplasm;Mitochondrion;Nucleolus;Nucleoplasm;Spindle Mental retardation, autosomal recessive 5 RNA cytosine C(5)-methyltransferase that methylates cytosine to 5-methylcytosine (m5C) in various RNAs, such as tRNAs, mRNAs and some long non-coding RNAs (lncRNAs) (PubMed:17071714, PubMed:22995836, PubMed:31358969, PubMed:31199786). Involved in various processes, such as epidermal stem cell differentiation, testis differentiation and maternal to zygotic transition during early development: acts by increasing protein synthesis; cytosine C(5)-methylation promoting tRNA stability and preventing mRNA decay (PubMed:31199786). Methylates cytosine to 5-methylcytosine (m5C) at positions 34 and 48 of intron-containing tRNA(Leu)(CAA) precursors, and at positions 48, 49 and 50 of tRNA(Gly)(GCC) precursors (PubMed:17071714, PubMed:22995836, PubMed:31199786). TRNA methylation is required generation of RNA fragments derived from tRNAs (tRFs) (PubMed:31199786). Also mediates C(5)-methylation of mitochondrial tRNAs (PubMed:31276587). Catalyzes cytosine C(5)-methylation of mRNAs, leading to stabilize them and prevent mRNA decay: mRNA stabilization involves YBX1 that specifically recognizes and binds m5C-modified transcripts (PubMed:22395603, PubMed:31358969). Cytosine C(5)-methylation of mRNAs also regulates mRNA export: methylated transcripts are specifically recognized by THOC4/ALYREF, which mediates mRNA nucleo-cytoplasmic shuttling (PubMed:28418038). Also mediates cytosine C(5)-methylation of non-coding RNAs, such as vault RNAs (vtRNAs), promoting their processing into regulatory small RNAs (PubMed:23871666). Cytosine C(5)-methylation of vtRNA VTRNA1.1 promotes its processing into small-vault RNA4 (svRNA4) and regulates epidermal differentiation (PubMed:31186410). May act downstream of Myc to regulate epidermal cell growth and proliferation (By similarity). Required for proper spindle assembly and chromosome segregation, independently of its methyltransferase activity (PubMed:19596847). Phosphorylated at Ser-139 by AURKB during mitosis, leading to abolish methyltransferase activity and the interaction with NPM1. Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. TRM4 subfamily. tRNA modification in the nucleus and cytosol PE1 5 +NX_Q09013 Myotonin-protein kinase 629 69385 4.92 1 Mitochondrion outer membrane;Nucleus outer membrane;Endoplasmic reticulum membrane;Cell membrane;Mitochondrion membrane;Cytoplasmic vesicle;Cytosol;Sarcoplasmic reticulum membrane Dystrophia myotonica 1 Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity probably through the regulation of cellular calcium homeostasis. Phosphorylates PLN, a regulator of calcium pumps and may regulate sarcoplasmic reticulum calcium uptake in myocytes. May also phosphorylate FXYD1/PLM which is able to induce chloride currents. May also play a role in synaptic plasticity. Phosphorylated. Autophosphorylates. Phosphorylation by RAF1 may result in activation of DMPK.;Proteolytic processing of the C-terminus may remove the transmembrane domain and release the kinase from membranes stimulating its activity.;DMPK is phosphorylated by RAF1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily. Ion homeostasis PE1 19 +NX_Q09019 Dystrophia myotonica WD repeat-containing protein 674 70438 6.9 0 Cell membrane;Perikaryon;Dendrite;Nucleus;Cytoskeleton NA NA NA NA NA PE1 19 +NX_Q09028 Histone-binding protein RBBP4 425 47656 4.74 0 Nucleus NA Core histone-binding subunit that may target chromatin assembly factors, chromatin remodeling factors and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the chromatin assembly factor 1 (CAF-1) complex, which is required for chromatin assembly following DNA replication and DNA repair; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome remodeling and histone deacetylase complex (the NuRD complex), which promotes transcriptional repression by histone deacetylation and nucleosome remodeling; the PRC2/EED-EZH2 complex, which promotes repression of homeotic genes during development; and the NURF (nucleosome remodeling factor) complex. NA Belongs to the WD repeat RBAP46/RBAP48/MSI1 family. PKMTs methylate histone lysines;RNA Polymerase I Transcription Initiation;Oxidative Stress Induced Senescence;PRC2 methylates histones and DNA;HDACs deacetylate histones;Deposition of new CENPA-containing nucleosomes at the centromere;G0 and Early G1;G1/S-Specific Transcription;Polo-like kinase mediated events;Cyclin E associated events during G1/S transition;Cyclin A:Cdk2-associated events at S phase entry;Activation of anterior HOX genes in hindbrain development during early embryogenesis;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Regulation of TP53 Activity through Acetylation;Transcription of E2F targets under negative control by DREAM complex;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1;Transcriptional Regulation by E2F6;Regulation of PTEN gene transcription PE1 1 +NX_Q09161 Nuclear cap-binding protein subunit 1 790 91839 5.99 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Component of the cap-binding complex (CBC), which binds cotranscriptionally to the 5'-cap of pre-mRNAs and is involved in various processes such as pre-mRNA splicing, translation regulation, nonsense-mediated mRNA decay, RNA-mediated gene silencing (RNAi) by microRNAs (miRNAs) and mRNA export. The CBC complex is involved in mRNA export from the nucleus via its interaction with ALYREF/THOC4/ALY, leading to the recruitment of the mRNA export machinery to the 5'-end of mRNA and to mRNA export in a 5' to 3' direction through the nuclear pore. The CBC complex is also involved in mediating U snRNA and intronless mRNAs export from the nucleus. The CBC complex is essential for a pioneer round of mRNA translation, before steady state translation when the CBC complex is replaced by cytoplasmic cap-binding protein eIF4E. The pioneer round of mRNA translation mediated by the CBC complex plays a central role in nonsense-mediated mRNA decay (NMD), NMD only taking place in mRNAs bound to the CBC complex, but not on eIF4E-bound mRNAs. The CBC complex enhances NMD in mRNAs containing at least one exon-junction complex (EJC) via its interaction with UPF1, promoting the interaction between UPF1 and UPF2. The CBC complex is also involved in 'failsafe' NMD, which is independent of the EJC complex, while it does not participate in Staufen-mediated mRNA decay (SMD). During cell proliferation, the CBC complex is also involved in microRNAs (miRNAs) biogenesis via its interaction with SRRT/ARS2 and is required for miRNA-mediated RNA interference. The CBC complex also acts as a negative regulator of PARN, thereby acting as an inhibitor of mRNA deadenylation. In the CBC complex, NCBP1/CBP80 does not bind directly capped RNAs (m7GpppG-capped RNA) but is required to stabilize the movement of the N-terminal loop of NCBP2/CBP20 and lock the CBC into a high affinity cap-binding state with the cap structure. Associates with NCBP3 to form an alternative cap-binding complex (CBC) which plays a key role in mRNA export and is particularly important in cellular stress situations such as virus infections. The conventional CBC with NCBP2 binds both small nuclear RNA (snRNA) and messenger (mRNA) and is involved in their export from the nucleus whereas the alternative CBC with NCBP3 does not bind snRNA and associates only with mRNA thereby playing a role only in mRNA export. NCBP1/CBP80 is required for cell growth and viability (PubMed:26382858). NA Belongs to the NCBP1 family. RNA transport;mRNA surveillance pathway;Spliceosome;snRNP Assembly;SLBP independent Processing of Histone Pre-mRNAs;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;mRNA 3'-end processing;Processing of Capped Intron-Containing Pre-mRNA;SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs;Processing of Intronless Pre-mRNAs;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);FGFR2 alternative splicing;RNA polymerase II transcribes snRNA genes;Signaling by FGFR2 IIIa TM;Regulation of expression of SLITs and ROBOs;RNA Polymerase II Transcription Termination PE1 9 +NX_Q09327 Beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase 533 61313 8.54 1 Golgi apparatus membrane NA It is involved in the regulation of the biosynthesis and biological function of glycoprotein oligosaccharides. Catalyzes the addition of N-acetylglucosamine in beta 1-4 linkage to the beta-linked mannose of the trimannosyl core of N-linked sugar chains, called bisecting N-acetylglucosamine (GlcNAc). It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. The addition of this bisecting GlcNAc residue alters not only the composition, but also the conformation of the N-glycan. The introduction of the bisecting GlcNAc residue results in the suppression of further processing and elongation of N-glycans, precluding the formation of beta-1,6 GlcNAc branching, catalyzed by MGAT5 since it is unable to use the bisected oligosaccharide as a substrate (PubMed:19403558). Addition of bisecting N-acetylglucosamine to CDH1/E-cadherin modulates CDH1 cell membrane location (PubMed:19403558). Inhibits NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc- formation which modulates sialylation levels and plays a role in cell migration regulation (PubMed:26801611). In brain, addition of bisecting N-acetylglucosamine to BACE1 blocks its lysosomal targeting in response to oxidative stress and further degradation which increases its location to early endosome and the APP cleavage (By similarity). NA Belongs to the glycosyltransferase 17 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Reactions specific to the hybrid N-glycan synthesis pathway PE1 22 +NX_Q09328 Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A 741 84543 8.41 1 Secreted;Golgi apparatus membrane NA Secreted alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A: Promotes proliferation of umbilical vein endothelial cells and angiogenesis, at least in part by promoting the release of the growth factor FGF2 from the extracellular matrix.;Catalyzes the addition of N-acetylglucosamine (GlcNAc) in beta 1-6 linkage to the alpha-linked mannose of biantennary N-linked oligosaccharides (PubMed:10395745, PubMed:30140003). Catalyzes an important step in the biosynthesis of branched, complex-type N-glycans, such as those found on EGFR, TGFR (TGF-beta receptor) and CDH2 (PubMed:10395745, PubMed:22614033, PubMed:30140003). Via its role in the biosynthesis of complex N-glycans, plays an important role in the activation of cellular signaling pathways, reorganization of the actin cytoskeleton, cell-cell adhesion and cell migration. MGAT5-dependent EGFR N-glycosylation enhances the interaction between EGFR and LGALS3 and thereby prevents rapid EGFR endocytosis and prolongs EGFR signaling. Required for efficient interaction between TGFB1 and its receptor. Enhances activation of intracellular signaling pathways by several types of growth factors, including FGF2, PDGF, IGF, TGFB1 and EGF. MGAT5-dependent CDH2 N-glycosylation inhibits CDH2-mediated homotypic cell-cell adhesion and contributes to the regulation of downstream signaling pathways. Promotes cell migration. Contributes to the regulation of the inflammatory response. MGAT5-dependent TCR N-glycosylation enhances the interaction between TCR and LGALS3, limits agonist-induced TCR clustering, and thereby dampens TCR-mediated responses to antigens. Required for normal leukocyte evasation and accumulation at sites of inflammation (By similarity). Inhibits attachment of monocytes to the vascular endothelium and subsequent monocyte diapedesis (PubMed:22614033). A secreted form is released from the membrane after cleavage by gamma-secretase.;N-glycosylated. Belongs to the glycosyltransferase 18 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;N-Glycan antennae elongation PE1 2 +NX_Q09428 ATP-binding cassette sub-family C member 8 1581 176992 7.99 17 Golgi apparatus;Cytosol;Nucleolus;Cell membrane Transient neonatal diabetes mellitus 2;Leucine-induced hypoglycemia;Diabetes mellitus, permanent neonatal;Familial hyperinsulinemic hypoglycemia 1 Subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release. NA Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. ABC transporters;Type II diabetes mellitus;Regulation of insulin secretion;ATP sensitive Potassium channels;Defective ABCC8 can cause hypoglycemias and hyperglycemias PE1 11 +NX_Q09470 Potassium voltage-gated channel subfamily A member 1 495 56466 5.08 6 Presynaptic cell membrane;Cell membrane;Cell junction;Perikaryon;Membrane;Endoplasmic reticulum;Presynapse;Synapse;Cytoplasmic vesicle;Axon;Dendrite Myokymia isolated 1;Episodic ataxia 1 Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the kidney (PubMed:19903818). Contributes to the regulation of the membrane potential and nerve signaling, and prevents neuronal hyperexcitability (PubMed:17156368). Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:19912772). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNA7, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:12077175, PubMed:17156368). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation of delayed rectifier potassium channels (PubMed:12077175, PubMed:17156368). In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA1 forms a delayed-rectifier potassium channel that opens in response to membrane depolarization, followed by slow spontaneous channel closure (PubMed:19912772, PubMed:19968958, PubMed:19307729, PubMed:19903818). In contrast, a heterotetrameric channel formed by KCNA1 and KCNA4 shows rapid inactivation (PubMed:17156368). Regulates neuronal excitability in hippocampus, especially in mossy fibers and medial perforant path axons, preventing neuronal hyperexcitability. Response to toxins that are selective for KCNA1, respectively for KCNA2, suggests that heteromeric potassium channels composed of both KCNA1 and KCNA2 play a role in pacemaking and regulate the output of deep cerebellar nuclear neurons (By similarity). May function as down-stream effector for G protein-coupled receptors and inhibit GABAergic inputs to basolateral amygdala neurons (By similarity). May contribute to the regulation of neurotransmitter release, such as gamma-aminobutyric acid (GABA) release (By similarity). Plays a role in regulating the generation of action potentials and preventing hyperexcitability in myelinated axons of the vagus nerve, and thereby contributes to the regulation of heart contraction (By similarity). Required for normal neuromuscular responses (PubMed:11026449, PubMed:17136396). Regulates the frequency of neuronal action potential firing in response to mechanical stimuli, and plays a role in the perception of pain caused by mechanical stimuli, but does not play a role in the perception of pain due to heat stimuli (By similarity). Required for normal responses to auditory stimuli and precise location of sound sources, but not for sound perception (By similarity). The use of toxins that block specific channels suggest that it contributes to the regulation of the axonal release of the neurotransmitter dopamine (By similarity). Required for normal postnatal brain development and normal proliferation of neuronal precursor cells in the brain (By similarity). Plays a role in the reabsorption of Mg(2+) in the distal convoluted tubules in the kidney and in magnesium ion homeostasis, probably via its effect on the membrane potential (PubMed:23903368, PubMed:19307729). N-glycosylated.;Palmitoylated on Cys-243; which may be required for membrane targeting.;Phosphorylated on tyrosine residues. Phosphorylation increases in response to NRG1; this inhibits channel activity (By similarity). Phosphorylation at Ser-446 regulates channel activity by down-regulating expression at the cell membrane (PubMed:23774215). Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.1/KCNA1 sub-subfamily. Voltage gated Potassium channels PE1 12 +NX_Q09472 Histone acetyltransferase p300 2414 264161 8.81 0 Cytoplasm;Nucleoplasm;Nucleus;Chromosome Menke-Hennekam syndrome 2;Rubinstein-Taybi syndrome 2 (Microbial infection) In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes. Binds to and may be involved in the transforming capacity of the adenovirus E1A protein.;Functions as histone acetyltransferase and regulates transcription via chromatin remodeling (PubMed:23415232, PubMed:23934153, PubMed:8945521). Acetylates all four core histones in nucleosomes. Histone acetylation gives an epigenetic tag for transcriptional activation (PubMed:23415232, PubMed:23934153, PubMed:8945521). Mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. Mediates acetylation of histone H3 at 'Lys-122' (H3K122ac), a modification that localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability. Mediates acetylation of histone H3 at 'Lys-27' (H3K27ac) (PubMed:23911289). Also functions as acetyltransferase for non-histone targets, such as ALX1, HDAC1, PRMT1 or SIRT2 (PubMed:12929931, PubMed:16762839, PubMed:18722353). Acetylates 'Lys-131' of ALX1 and acts as its coactivator (PubMed:12929931). Acetylates SIRT2 and is proposed to indirectly increase the transcriptional activity of TP53 through acetylation and subsequent attenuation of SIRT2 deacetylase function (PubMed:18722353). Acetylates HDAC1 leading to its inactivation and modulation of transcription (PubMed:16762839). Acts as a TFAP2A-mediated transcriptional coactivator in presence of CITED2 (PubMed:12586840). Plays a role as a coactivator of NEUROD1-dependent transcription of the secretin and p21 genes and controls terminal differentiation of cells in the intestinal epithelium. Promotes cardiac myocyte enlargement. Can also mediate transcriptional repression. Acetylates FOXO1 and enhances its transcriptional activity (PubMed:15890677). Acetylates BCL6 wich disrupts its ability to recruit histone deacetylases and hinders its transcriptional repressor activity (PubMed:12402037). Participates in CLOCK or NPAS2-regulated rhythmic gene transcription; exhibits a circadian association with CLOCK or NPAS2, correlating with increase in PER1/2 mRNA and histone H3 acetylation on the PER1/2 promoter (PubMed:14645221). Acetylates MTA1 at 'Lys-626' which is essential for its transcriptional coactivator activity (PubMed:16617102). Acetylates XBP1 isoform 2; acetylation increases protein stability of XBP1 isoform 2 and enhances its transcriptional activity (PubMed:20955178). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Acetylates MEF2D (PubMed:21030595). Acetylates and stabilizes ZBTB7B protein by antagonizing ubiquitin conjugation and degragation, this mechanism may be involved in CD4/CD8 lineage differentiation (PubMed:20810990). In addition to protein acetyltransferase, can use different acyl-CoA substrates, such as (2E)-butenoyl-CoA (crotonyl-CoA), butanoyl-CoA (butyryl-CoA) or propanoyl-CoA (propionyl-CoA), and is able to mediate protein crotonylation, butyrylation or propionylation, respectively (PubMed:25818647, PubMed:17267393). Acts as a histone crotonyltransferase; crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors (PubMed:25818647). Histone crotonyltransferase activity is dependent on the concentration of (2E)-butenoyl-CoA (crotonyl-CoA) substrate and such activity is weak when (E)-but-2-enoyl-CoA (crotonyl-CoA) concentration is low (PubMed:25818647). Also acts as a histone butyryltransferase; butyrylation marks active promoters (PubMed:17267393). Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway (PubMed:25514493). Acetylates PCK1 and promotes PCK1 anaplerotic activity (PubMed:30193097). Acetylates RXRA and RXRG (PubMed:17761950). Citrullinated at Arg-2142 by PADI4, which impairs methylation by CARM1 and promotes interaction with NCOA2/GRIP1.;Methylated at Arg-580 and Arg-604 in the KIX domain by CARM1, which blocks association with CREB, inhibits CREB signaling and activates apoptotic response. Also methylated at Arg-2142 by CARM1, which impairs interaction with NCOA2/GRIP1.;Acetylated on Lys at up to 17 positions by intermolecular autocatalysis. Deacetylated in the transcriptional repression domain (CRD1) by SIRT1, preferentially at Lys-1020. Deacetylated by SIRT2, preferentially at Lys-418, Lys-423, Lys-1542, Lys-1546, Lys-1549, Lys-1699, Lys-1704 and Lys-1707.;Sumoylated; sumoylation in the transcriptional repression domain (CRD1) mediates transcriptional repression. Desumoylated by SENP3 through the removal of SUMO2 and SUMO3.;Phosphorylated by HIPK2 in a RUNX1-dependent manner. This phosphorylation that activates EP300 happens when RUNX1 is associated with DNA and CBFB. Phosphorylated by ROCK2 and this enhances its activity. Phosphorylation at Ser-89 by AMPK reduces interaction with nuclear receptors, such as PPARG.;Probable target of ubiquitination by FBXO3, leading to rapid proteasome-dependent degradation.;EP300 is phosphorylated by HIPK2;EP300 is phosphorylated by ROCK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Cell cycle;Wnt signaling pathway;Notch signaling pathway;TGF-beta signaling pathway;Adherens junction;Jak-STAT signaling pathway;Long-term potentiation;Melanogenesis;Huntington's disease;Tuberculosis;Influenza A;HTLV-I infection;Herpes simplex infection;Pathways in cancer;Renal cell carcinoma;Prostate cancer;HATs acetylate histones;PPARA activates gene expression;Formation of the beta-catenin:TCF transactivating complex;TRAF6 mediated IRF7 activation;Pre-NOTCH Transcription and Translation;Regulation of gene expression by Hypoxia-inducible Factor;RORA activates gene expression;Circadian Clock;Polo-like kinase mediated events;Attenuation phase;NOTCH2 intracellular domain regulates transcription;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Transcriptional regulation of white adipocyte differentiation;Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells;TRAF3-dependent IRF activation pathway;CD209 (DC-SIGN) signaling;LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;Regulation of TP53 Activity through Acetylation;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;Regulation of TP53 Activity through Methylation;Metalloprotease DUBs;Activation of the TFAP2 (AP-2) family of transcription factors;PI5P Regulates TP53 Acetylation;Regulation of RUNX3 expression and activity;RUNX3 regulates NOTCH signaling;RUNX3 regulates p14-ARF;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known;NOTCH3 Intracellular Domain Regulates Transcription;Estrogen-dependent gene expression;SUMOylation of transcription cofactors;NOTCH4 Intracellular Domain Regulates Transcription;FOXO-mediated transcription of cell death genes;Regulation of FOXO transcriptional activity by acetylation;Transcriptional regulation of granulopoiesis PE1 22 +NX_Q09666 Neuroblast differentiation-associated protein AHNAK 5890 629101 5.8 0 Cytosol;Nucleus;Cell membrane NA May be required for neuronal cell differentiation. NA NA NA PE1 11 +NX_Q09FC8 Zinc finger protein 415 603 68798 9.16 0 Cytoplasm;Nucleus;Nucleolus;Cytoskeleton NA Involved in transcriptional regulation. Transcriptional activity differed among the various isoforms. All isoforms except isoform 3 seem to suppresses the transcriptional activities of AP-1 and p53/TP53. NA NA Generic Transcription Pathway PE1 19 +NX_Q09MP3 RAD51-associated protein 2 1159 133907 7.11 0 NA NA NA NA NA NA PE1 2 +NX_Q0D2H9 Putative golgin subfamily A member 8D 430 48423 5.41 0 NA NA NA NA Belongs to the GOLGA8 family. NA PE5 15 +NX_Q0D2I5 Intermediate filament family orphan 1 559 61979 4.83 0 NA NA NA NA Belongs to the intermediate filament family. NA PE1 12 +NX_Q0D2J5 Zinc finger protein 763 394 46099 9.32 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE2 19 +NX_Q0D2K0 Magnesium transporter NIPA4 466 50058 7.09 9 Membrane Ichthyosis, congenital, autosomal recessive 6 Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Mn(2+), Sr(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). May be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway. NA Belongs to the NIPA family. Miscellaneous transport and binding events PE1 5 +NX_Q0D2K2 Kelch-like protein 30 578 63976 5.59 0 Centriolar satellite NA NA NA NA NA PE1 2 +NX_Q0D2K3 Protein ripply1 151 16379 4.32 0 Nucleus NA Plays a role in somitogenesis. Essential for transcriptional repression of the segmental patterning genes, thus terminating the segmentation program in the presomitic mesoderm, and also required for the maintenance of rostrocaudal polarity in somites (By similarity). NA Belongs to the ripply family. NA PE1 X +NX_Q0D2K5 Putative EGF-like and EMI domain-containing protein 1 195 21632 8.36 0 NA NA NA NA NA NA PE5 3 +NX_Q0GE19 Sodium/bile acid cotransporter 7 340 37432 9.68 10 Endoplasmic reticulum membrane;Cell membrane;Golgi apparatus membrane Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis Involved in teeth and skeletal development. Has an essential role in the biosynthesis and trafficking of glycosaminoglycans and glycoproteins, to produce a proper functioning extracellular matrix. Required for extracellular matrix mineralization (PubMed:30082715, PubMed:29878199). Also involved in the regulation of cellular calcium homeostasis (PubMed:30082715, PubMed:31191616). Does not show transport activity towards bile acids or steroid sulfates (including taurocholate, cholate, chenodeoxycholate, estrone-3-sulfate, dehydroepiandrosterone sulfate (DHEAS) and pregnenolone sulfate). NA Belongs to the unknown BART superfamily-1 (UBS1) (TC 2.A.93) family. NA PE1 4 +NX_Q0IIM8 TBC1 domain family member 8B 1120 128709 5.66 0 Cytosol Nephrotic syndrome 20 Involved in vesicular recycling, probably as a RAB11B GTPase-activating protein. NA NA Golgi Associated Vesicle Biogenesis PE1 X +NX_Q0IIN9 Putative uncharacterized protein ZNF252P-AS1 211 22478 8.78 0 NA NA NA NA NA NA PE5 8 +NX_Q0JRZ9 F-BAR domain only protein 2 810 88924 6.42 0 Cytoplasmic vesicle;Cytosol;Centrosome;Clathrin-coated pit NA Functions in an early step of clathrin-mediated endocytosis. Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a lipid-binding activity with a preference for membranes enriched in phosphatidylserine and phosphoinositides (Pi(4,5) biphosphate) like the plasma membrane. Its membrane-bending activity might be important for the subsequent action of clathrin and adaptors in the formation of clathrin-coated vesicles. Involved in adaptor protein complex AP-2-dependent endocytosis of the transferrin receptor, it also functions in the AP-2-independent endocytosis of the LDL receptor. Ubiquitinated. Mainly undergoes monoubiquitination but also polyubiquitination (By similarity). Belongs to the FCHO family. Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 5 +NX_Q0P140 Putative uncharacterized protein HSD52 79 8416 4.93 0 NA NA NA NA NA NA PE5 1 +NX_Q0P5N6 ADP-ribosylation factor-like protein 16 197 20936 8.57 0 NA NA NA NA Belongs to the small GTPase superfamily. Arf family. NA PE1 17 +NX_Q0P5P2 Uncharacterized protein C17orf67 90 10670 8.74 0 Secreted NA NA NA NA NA PE1 17 +NX_Q0P641 Uncharacterized protein C2orf80 193 22038 9.47 0 Golgi apparatus NA NA NA NA NA PE2 2 +NX_Q0P651 Protein ABHD18 414 46954 9.37 0 Secreted;Nucleus membrane NA NA NA Belongs to the AB hydrolase superfamily. NA PE1 4 +NX_Q0P670 Uncharacterized protein SPEM2 501 57131 9.69 1 Membrane NA NA NA NA NA PE1 17 +NX_Q0P6D2 Divergent protein kinase domain 1C 419 46420 6.38 1 Endoplasmic reticulum membrane NA NA Among the many cysteines in the lumenal domain, most are probably involved in disulfide bonds. Belongs to the DIPK family. NA PE1 18 +NX_Q0P6D6 Coiled-coil domain-containing protein 15 951 110484 6.05 0 Cytosol;Cell membrane NA NA NA NA NA PE1 11 +NX_Q0P6H9 Transmembrane protein 62 643 73133 9.34 6 Nucleolus;Membrane;Nucleoplasm;Cytosol;Nucleus NA NA NA NA NA PE1 15 +NX_Q0PNE2 Elongator complex protein 6 266 29793 6.36 0 Nucleoplasm;Cytosol;Centrosome NA Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation (PubMed:22854966). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244). Involved in cell migration (By similarity). NA Belongs to the ELP6 family. tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis.;HATs acetylate histones PE1 3 +NX_Q0VAA2 Leucine-rich repeat-containing protein 74A 488 54535 5.22 0 NA NA NA NA NA NA PE1 14 +NX_Q0VAA5 PI-PLC X domain-containing protein 2 305 34777 9.51 0 Nucleoplasm;Nucleus NA NA NA NA NA PE2 3 +NX_Q0VAF6 Syncollin 134 14405 8.11 0 Secretory vesicle membrane NA Functions in exocytosis in pancreatic acinar cells regulating the fusion of zymogen granules with each other. May have a pore-forming activity on membranes and regulate exocytosis in other exocrine tissues (By similarity). Contains intrachain disulfide bonds. NA NA PE1 19 +NX_Q0VAK6 Leiomodin-3 560 64914 5.42 0 Cytoplasm;A band;M line;Cytoskeleton Nemaline myopathy 10 Essential for the organization of sarcomeric actin thin filaments in skeletal muscle (PubMed:25250574). Increases the rate of actin polymerization (PubMed:25250574). Ubiquitinated, leading to its degradation. Interaction with KLHL40 negatively regulates ubiquitination and degradation. Belongs to the tropomodulin family. NA PE1 3 +NX_Q0VAM2 Ras-GEF domain-containing family member 1B 473 55359 8.19 0 Early endosome;Nucleoplasm;Late endosome;Cytoplasmic vesicle;Midbody NA Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, it doesn't seems to activate other Ras family proteins (in vitro). NA NA NA PE1 4 +NX_Q0VAQ4 Small cell adhesion glycoprotein 97 10679 4.21 1 Cytoplasmic vesicle membrane;Nucleoplasm;Cell membrane NA May play a role in epithelial cell-cell contacts. May play a role in tumor invasiveness and metastasis formation. O-glycosylated. The O-glycan is modified with sialic acid residues. Belongs to the SMAGP family. NA PE1 12 +NX_Q0VD83 Apolipoprotein B receptor 1097 115634 4.38 0 Cell membrane NA Macrophage receptor that binds to the apolipoprotein B48 (APOB) of dietary triglyceride (TG)-rich lipoproteins (TRL) or to a like domain of APOB in hypertriglyceridemic very low density lipoprotein (HTG-VLDL). Binds and internalizes TRL when out of the context of the macrophage. May provide essential lipids to reticuloendothelial cells. Could also be involved in foam cell formation with elevated TRL and remnant lipoprotein (RLP). Mediates the rapid high-affinity uptake of chylomicrons (CM), HTG-VLDL, and trypsinized (tryp) VLDL devoid of APOE in vitro in macrophages. There are 2 forms in macrophages, the membrane-binding proteins 200 kDa (MBP 200) and 235 kDa (MBP 235), that can be reduced into a single active ligand-binding species with intermediate mobility (MBP 200R). NA VLDL clearance PE1 16 +NX_Q0VD86 Protein INCA1 236 26817 6.92 0 Nucleoplasm;Cytoplasm;Nucleus NA Binds to CDK2-bound cyclins and inhibits the kinase activity of CDK2; binding to cyclins is critical for its function as CDK inhibitor (PubMed:21540187). Inhibits cell growth and cell proliferation and may play a role in cell cycle control (By similarity). Required for ING5-mediated regulation of S-phase progression, enhancement of Fas-induced apoptosis and inhibition of cell growth (By similarity). Phosphorylated when part of a complex with CCNA1 and CDK2. Strongly phosphorylated by CDK2 on its C-terminal region spanning amino acid 149-221. Less intensively phosphorylated by CDK2 on its first 75 amino acid residues. Belongs to the INCA family. NA PE1 17 +NX_Q0VDD5 Putative uncharacterized protein encoded by MIR22HG 57 6478 11.21 0 NA NA NA NA NA NA PE5 17 +NX_Q0VDD7 Uncharacterized protein C19orf57 668 69556 4.71 0 Nucleoplasm NA NA NA NA NA PE1 19 +NX_Q0VDD8 Dynein heavy chain 14, axonemal 3507 399895 6.52 0 Centrosome;Cilium axoneme NA Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity). NA Belongs to the dynein heavy chain family. NA PE1 1 +NX_Q0VDE8 Adipogenin 80 9465 4.68 1 Membrane;Nucleus NA Plays a role in stimulating adipocyte differentiation and development. NA Belongs to the adipogenin family. NA PE2 20 +NX_Q0VDF9 Heat shock 70 kDa protein 14 509 54794 5.41 0 Cytosol NA Component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding-competent state. In the RAC complex, binds to the nascent polypeptide chain, while DNAJC2 stimulates its ATPase activity. NA Belongs to the heat shock protein 70 family. Regulation of HSF1-mediated heat shock response PE1 10 +NX_Q0VDG4 Secernin-3 424 48544 5.38 0 Cytoplasmic vesicle;Cytosol NA NA NA Belongs to the peptidase C69 family. Secernin subfamily. NA PE1 2 +NX_Q0VDI3 Transmembrane protein 267 215 24217 8.91 3 Membrane;Nucleoplasm NA NA NA NA NA PE1 5 +NX_Q0VF49 Uncharacterized protein KIAA2012 1180 135305 8.53 0 NA NA NA NA NA NA PE1 2 +NX_Q0VF96 Cingulin-like protein 1 1302 149079 5.51 0 Tight junction;Cell junction;Nucleus Aromatase excess syndrome May be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons. NA Belongs to the cingulin family. NA PE1 15 +NX_Q0VFX4 Putative uncharacterized protein LOC100128554 171 18056 8.78 0 NA NA NA NA NA NA PE2 12 +NX_Q0VFZ6 Coiled-coil domain-containing protein 173 552 66403 8.92 0 NA NA NA NA NA NA PE1 2 +NX_Q0VG06 Fanconi anemia core complex-associated protein 100 881 93433 5.12 0 Nucleoplasm;Nucleus NA Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed. NA NA Fanconi anemia pathway;Fanconi Anemia Pathway PE1 17 +NX_Q0VG73 Putative uncharacterized protein LOC152225 95 10763 6.38 0 NA NA NA NA NA NA PE5 3 +NX_Q0VG99 Mesoderm posterior protein 2 397 41760 7.05 0 Nucleus Spondylocostal dysostosis 2, autosomal recessive Transcription factor with important role in somitogenesis. Defines the rostrocaudal patterning of the somite by participating in distinct Notch pathways. Regulates also the FGF signaling pathway. Specifies the rostral half of the somites. Generates rostro-caudal polarity of somites by down-regulating in the presumptive rostral domain DLL1, a Notch ligand. Participates in the segment border formation by activating in the anterior presomitic mesoderm LFNG, a negative regulator of DLL1-Notch signaling. Acts as a strong suppressor of Notch activity. Together with MESP1 is involved in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm. Degraded by the proteasome. NA NA PE1 15 +NX_Q0VGE8 Zinc finger protein 816 651 75725 9.44 0 Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q0VGL1 Ragulator complex protein LAMTOR4 99 10741 6.07 0 Cytoplasmic vesicle;Lysosome NA As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. NA Belongs to the LAMTOR4 family. Macroautophagy;TP53 Regulates Metabolic Genes;Energy dependent regulation of mTOR by LKB1-AMPK;mTOR signalling;mTORC1-mediated signalling;Regulation of PTEN gene transcription PE1 7 +NX_Q0WX57 Ubiquitin carboxyl-terminal hydrolase 17-like protein 24 530 59711 8.35 0 Endoplasmic reticulum;Nucleolus NA Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection. NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE1 4 +NX_Q0Z7S8 Fatty acid-binding protein 9 132 15093 7.79 0 Cytoplasm NA NA NA Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. Triglyceride catabolism PE1 8 +NX_Q0ZGT2 Nexilin 675 80658 5.31 0 Cytoplasm;Cell membrane;Adherens junction;Z line;Cytoskeleton Cardiomyopathy, familial hypertrophic 20;Cardiomyopathy, dilated 1CC Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity. NA NA NA PE1 1 +NX_Q0ZLH3 Pejvakin 352 39913 9.18 0 Mitochondrion Deafness, autosomal recessive, 59 Essential in the activity of auditory pathway neurons. NA Belongs to the gasdermin family. NA PE1 2 +NX_Q10469 Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 447 51550 8.99 1 Golgi apparatus;Golgi apparatus membrane Congenital disorder of glycosylation 2A Plays an essential role in protein N-glycosylation. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) onto the free terminal mannose moiety in the core structure of the nascent N-linked glycan chain, giving rise to the second branch in complex glycans. NA Belongs to the glycosyltransferase 16 (GT16) protein family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Reactions specific to the complex N-glycan synthesis pathway;Defective MGAT2 causes MGAT2-CDG (CDG-2a) PE1 14 +NX_Q10471 Polypeptide N-acetylgalactosaminyltransferase 2 571 64733 8.63 1 Golgi stack membrane;Golgi apparatus;Secreted NA Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b. Probably involved in O-linked glycosylation of the immunoglobulin A1 (IgA1) hinge region. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins;COPI-independent Golgi-to-ER retrograde traffic PE1 1 +NX_Q10472 Polypeptide N-acetylgalactosaminyltransferase 1 559 64219 7.83 1 Golgi stack membrane;Secreted NA Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b and Muc7. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins;COPI-independent Golgi-to-ER retrograde traffic PE1 18 +NX_Q10567 AP-1 complex subunit beta-1 949 104637 4.94 0 Golgi apparatus;Cytoplasmic vesicle;Cytosol;Clathrin-coated vesicle membrane NA Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP1B1 is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the adaptor complexes large subunit family. Lysosome;MHC class II antigen presentation;Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis;Nef mediated downregulation of MHC class I complex cell surface expression PE1 22 +NX_Q10570 Cleavage and polyadenylation specificity factor subunit 1 1443 160884 5.99 0 Nucleoplasm NA Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. This subunit is involved in the RNA recognition step of the polyadenylation reaction. The N-terminus is blocked. Belongs to the CPSF1 family. mRNA surveillance pathway;Transport of Mature mRNA Derived from an Intronless Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Processing of Intronless Pre-mRNAs;tRNA processing in the nucleus;RNA Polymerase II Transcription Termination PE1 8 +NX_Q10571 Transcriptional activator MN1 1320 136001 6.22 0 Nucleoplasm NA Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fusion of the palatal shelves. Promotes maturation and normal function of calvarial osteoblasts, including expression of the osteoclastogenic cytokine TNFSF11/RANKL. Necessary for normal development of the membranous bones of the skull (By similarity). May play a role in tumor suppression (Probable). NA NA NA PE1 22 +NX_Q10586 D site-binding protein 325 34349 9.34 0 Nucleus NA This transcriptional activator recognizes and binds to the sequence 5'-RTTAYGTAAY-3' found in the promoter of genes such as albumin, CYP2A4 and CYP2A5. It is not essential for circadian rhythm generation, but modulates important clock output genes. May be a direct target for regulation by the circadian pacemaker component clock. May affect circadian period and sleep regulation. NA Belongs to the bZIP family. PAR subfamily. BMAL1:CLOCK,NPAS2 activates circadian gene expression PE1 19 +NX_Q10587 Thyrotroph embryonic factor 303 33248 5.81 0 Nucleus NA Transcription factor that binds to and transactivates the TSHB promoter. Binds to a minimal DNA-binding sequence 5'-[TC][AG][AG]TTA[TC][AG]-3'. NA Belongs to the bZIP family. PAR subfamily. NA PE1 22 +NX_Q10588 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 318 35724 7.97 0 Cell membrane NA Synthesizes the second messengers cyclic ADP-ribose and nicotinate-adenine dinucleotide phosphate, the former a second messenger that elicits calcium release from intracellular stores. May be involved in pre-B-cell growth. NA Belongs to the ADP-ribosyl cyclase family. Nicotinate and nicotinamide metabolism;Metabolic pathways;Calcium signaling pathway;Salivary secretion;Pancreatic secretion;Nicotinate metabolism;Neutrophil degranulation;Post-translational modification: synthesis of GPI-anchored proteins PE1 4 +NX_Q10589 Bone marrow stromal antigen 2 180 19769 5.43 1 trans-Golgi network;Golgi apparatus;Cytoplasm;Cell membrane;Apical cell membrane;Late endosome;Cytosol;Membrane raft NA Are both effective viral restriction factors but have differing antiviral and signaling activities (PubMed:23028328, PubMed:26172439).;IFN-induced antiviral host restriction factor which efficiently blocks the release of diverse mammalian enveloped viruses by directly tethering nascent virions to the membranes of infected cells. Acts as a direct physical tether, holding virions to the cell membrane and linking virions to each other. The tethered virions can be internalized by endocytosis and subsequently degraded or they can remain on the cell surface. In either case, their spread as cell-free virions is restricted. Its target viruses belong to diverse families, including retroviridae: human immunodeficiency virus type 1 (HIV-1), human immunodeficiency virus type 2 (HIV-2), simian immunodeficiency viruses (SIVs), equine infectious anemia virus (EIAV), feline immunodeficiency virus (FIV), prototype foamy virus (PFV), Mason-Pfizer monkey virus (MPMV), human T-cell leukemia virus type 1 (HTLV-1), Rous sarcoma virus (RSV) and murine leukemia virus (MLV), flavivirideae: hepatitis C virus (HCV), filoviridae: ebola virus (EBOV) and marburg virus (MARV), arenaviridae: lassa virus (LASV) and machupo virus (MACV), herpesviridae: kaposis sarcoma-associated herpesvirus (KSHV), rhabdoviridae: vesicular stomatitis virus (VSV), orthomyxoviridae: influenza A virus, and paramyxoviridae: nipah virus. Can inhibit cell surface proteolytic activity of MMP14 causing decreased activation of MMP15 which results in inhibition of cell growth and migration. Can stimulate signaling by LILRA4/ILT7 and consequently provide negative feedback to the production of IFN by plasmacytoid dendritic cells in response to viral infection (PubMed:19564354, PubMed:26172439). Plays a role in the organization of the subapical actin cytoskeleton in polarized epithelial cells.;Acts as an activator of NF-kappa-B and this activity is inhibited by isoform 2 (PubMed:23028328).;Is resistant to HIV-1 Vpu-mediated degradation and restricts HIV-1 viral budding in the presence of Vpu (PubMed:23028328, PubMed:26172439). The GPI anchor is essential for its antiviral activity.;Monoubiquitinated by KSHV E3 ubiquitin-protein ligase K5, leading to its targeting to late endosomes and degradation. Belongs to the tetherin family. Interferon alpha/beta signaling;Neutrophil degranulation PE1 19 +NX_Q10713 Mitochondrial-processing peptidase subunit alpha 525 58253 6.45 0 Mitochondrion matrix;Mitochondrion inner membrane;Mitochondrion Spinocerebellar ataxia, autosomal recessive, 2 Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which is required for maturation of the majority of mitochondrial precursor proteins (PubMed:25808372). Most MPP cleavage sites follow an arginine at position -2 (By similarity). NA Belongs to the peptidase M16 family. Mitochondrial protein import;Processing of SMDT1 PE1 9 +NX_Q107X0 Putative protein KRIP1 134 14401 9.73 0 Cytoplasm;Nucleus NA NA NA NA NA PE5 19 +NX_Q10981 Galactoside 2-alpha-L-fucosyltransferase 2 343 39017 8.69 1 Golgi stack membrane;Cytosol;Cell membrane NA Mediates the transfer of fucose to the terminal galactose on glycan chains of cell surface glycoproteins and glycolipids (PubMed:7876235). The resulting epitope plays a role in cell-cell interaction including host-microbe interaction (PubMed:12692541, PubMed:8018146). Mediates interaction with intestinal microbiota influencing its composition (PubMed:21625510, PubMed:24733310, PubMed:22068912). Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Galbeta-) called the H antigen which is an essential substrate for the final step in the soluble ABO blood group antigen synthesis pathway (PubMed:7876235). NA Belongs to the glycosyltransferase 11 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - lacto and neolacto series;Glycosphingolipid biosynthesis - globo series;Metabolic pathways;Lewis blood group biosynthesis;ABO blood group biosynthesis PE1 19 +NX_Q11128 Alpha-(1,3)-fucosyltransferase 5 374 43008 8.54 1 Golgi stack membrane NA May catalyze alpha-1,3 glycosidic linkages involved in the expression of VIM-2, Lewis X/SSEA-1 and sialyl Lewis X antigens. NA Belongs to the glycosyltransferase 10 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;Lewis blood group biosynthesis PE2 19 +NX_Q11130 Alpha-(1,3)-fucosyltransferase 7 342 39239 10.07 1 Golgi stack membrane;Golgi apparatus NA Catalyzes alpha-1,3 glycosidic linkages involved in the expression of sialyl Lewis X antigens. NA Belongs to the glycosyltransferase 10 family. Protein modification; protein glycosylation.;Other types of O-glycan biosynthesis;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;Lewis blood group biosynthesis PE1 9 +NX_Q11201 CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 340 39075 9.21 1 Golgi stack membrane;Secreted NA Responsible for the synthesis of the sequence NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- found on sugar chains O-linked to Thr or Ser and also as a terminal sequence on certain gangliosides. SIAT4A and SIAT4B sialylate the same acceptor substrates but exhibit different Km values. The soluble form derives from the membrane form by proteolytic processing. Belongs to the glycosyltransferase 29 family. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Glycosaminoglycan biosynthesis - keratan sulfate;Glycosphingolipid biosynthesis - globo series;Glycosphingolipid biosynthesis - ganglio series;Metabolic pathways;Sialic acid metabolism;Termination of O-glycan biosynthesis;Keratan sulfate biosynthesis PE1 8 +NX_Q11203 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase 375 42171 9.1 1 Golgi stack membrane;Secreted Epileptic encephalopathy, early infantile, 15;Mental retardation, autosomal recessive 12 Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- and NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest activity is toward Gal-beta-1,3-GlcNAc and the lowest toward Gal-beta-1,3-GalNAc. The soluble form derives from the membrane form by proteolytic processing. Belongs to the glycosyltransferase 29 family. Protein modification; protein glycosylation.;Other types of O-glycan biosynthesis;Glycosaminoglycan biosynthesis - keratan sulfate;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;Sialic acid metabolism;Termination of O-glycan biosynthesis;Keratan sulfate biosynthesis;Pre-NOTCH Processing in Golgi;Defective ST3GAL3 causes MCT12 and EIEE15;Lewis blood group biosynthesis PE1 1 +NX_Q11206 CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4 333 38045 9.45 1 Golgi stack membrane;Secreted NA Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, and NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. It may be involved in the biosynthesis of the sialyl Lewis X determinant. The soluble form derives from the membrane form by proteolytic processing. Belongs to the glycosyltransferase 29 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;Sialic acid metabolism;Termination of O-glycan biosynthesis;Keratan sulfate biosynthesis;Pre-NOTCH Processing in Golgi;N-Glycan antennae elongation;Lewis blood group biosynthesis PE1 11 +NX_Q12756 Kinesin-like protein KIF1A 1690 191064 5.86 0 Cytosol;Neuron projection;Centriolar satellite;Cytoskeleton Mental retardation, autosomal dominant 9;Spastic paraplegia 30, autosomal recessive;Neuropathy, hereditary sensory, 2C Motor for anterograde axonal transport of synaptic vesicle precursors. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 2 +NX_Q12765 Secernin-1 414 46382 4.66 0 Cytoplasm;Cytosol NA Regulates exocytosis in mast cells. Increases both the extent of secretion and the sensitivity of mast cells to stimulation with calcium (By similarity). NA Belongs to the peptidase C69 family. Secernin subfamily. NA PE1 7 +NX_Q12766 HMG domain-containing protein 3 1538 168334 8.39 0 Nucleus;Nucleolus NA NA NA NA NA PE1 5 +NX_Q12767 Transmembrane protein 94 1356 151151 5.99 10 Membrane Intellectual developmental disorder with cardiac defects and dysmorphic facies NA NA NA NA PE1 17 +NX_Q12768 WASH complex subunit 5 1159 134286 6.54 0 Nucleoplasm;Endoplasmic reticulum;Early endosome;Cytosol Ritscher-Schinzel syndrome 1;Spastic paraplegia 8, autosomal dominant Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093). May be involved in axonal outgrowth. Involved in cellular localization of ADRB2 (PubMed:23085491). Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7 (PubMed:23676666). NA Belongs to the strumpellin family. NA PE1 8 +NX_Q12769 Nuclear pore complex protein Nup160 1436 162121 5.31 0 Nuclear pore complex Nephrotic syndrome 19 Involved in poly(A)+ RNA transport. NA NA RNA transport;Separation of Sister Chromatids;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 11 +NX_Q12770 Sterol regulatory element-binding protein cleavage-activating protein 1279 139729 6.41 8 COPII-coated vesicle membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane NA Escort protein required for cholesterol as well as lipid homeostasis. Regulates export of the SCAP/SREBF complex from the ER upon low cholesterol. Formation of a ternary complex with INSIG at high sterol concentrations leads to masking of an ER-export signal in SCAP and retention of the complex in the ER. Low sterol concentrations trigger release of INSIG, a conformational change in the SSC domain of SCAP, unmasking of the ER export signal, recruitment into COPII-coated vesicles, transport to the Golgi complex, proteolytic cleavage of SREBF in the Golgi, release of the transcription factor fragment of SREBF from the membrane, its import into the nucleus and up-regulation of LDLR, INSIG1 and the mevalonate pathway (By similarity). Ubiquitinated at Lys-454 and Lys-466. RNF145 triggers ubiquitination of SCAP, likely inhibiting SCAP:SREBPF2 complex transport to the Golgi apparatus and the subsequent processing/maturation of SREBPF2. Belongs to the WD repeat SCAP family. Regulation of cholesterol biosynthesis by SREBP (SREBF) PE1 3 +NX_Q12772 Sterol regulatory element-binding protein 2 1141 123688 8.72 2 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleoplasm;COPII-coated vesicle membrane;Golgi apparatus membrane;Cytoplasmic vesicle;Nucleus NA Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as well as the cholesterol and to a lesser degree the fatty acid synthesis pathway (By similarity). Binds the sterol regulatory element 1 (SRE-1) (5'-ATCACCCCAC-3') found in the flanking region of the LDRL and HMG-CoA synthase genes. At low cholesterol the SCAP/SREBP complex is recruited into COPII vesicles for export from the ER. In the Golgi complex SREBPs are cleaved sequentially by site-1 and site-2 protease. The first cleavage by site-1 protease occurs within the luminal loop, the second cleavage by site-2 protease occurs within the first transmembrane domain and releases the transcription factor from the Golgi membrane. Apoptosis triggers cleavage by the cysteine proteases caspase-3 and caspase-7.;Phosphorylated by AMPK, leading to suppress protein processing and nuclear translocation, and repress target gene expression. Belongs to the SREBP family. PPARA activates gene expression;Activation of gene expression by SREBF (SREBP);Transcriptional regulation of white adipocyte differentiation;Regulation of cholesterol biosynthesis by SREBP (SREBF) PE1 22 +NX_Q12774 Rho guanine nucleotide exchange factor 5 1597 176799 5.37 0 Cytoplasm;Cell membrane;Podosome;Nucleoplasm;Cytosol;Nucleus NA Guanine nucleotide exchange factor which activates Rho GTPases (PubMed:15601624). Strongly activates RHOA (PubMed:15601624). Also strongly activates RHOB, weakly activates RHOC and RHOG and shows no effect on RHOD, RHOV, RHOQ or RAC1 (By similarity). Involved in regulation of cell shape and actin cytoskeletal organization (PubMed:15601624). Plays a role in actin organization by generating a loss of actin stress fibers and the formation of membrane ruffles and filopodia (PubMed:14662653). Required for SRC-induced podosome formation (By similarity). Involved in positive regulation of immature dendritic cell migration (By similarity). Activation of SRC induces tyrosine phosphorylation of ARHGEF5. NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 7 +NX_Q12778 Forkhead box protein O1 655 69662 6.28 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus Rhabdomyosarcoma 2 Transcription factor that is the main target of insulin signaling and regulates metabolic homeostasis in response to oxidative stress. Binds to the insulin response element (IRE) with consensus sequence 5'-TT[G/A]TTTTG-3' and the related Daf-16 family binding element (DBE) with consensus sequence 5'-TT[G/A]TTTAC-3'. Activity suppressed by insulin. Main regulator of redox balance and osteoblast numbers and controls bone mass. Orchestrates the endocrine function of the skeleton in regulating glucose metabolism. Acts synergistically with ATF4 to suppress osteocalcin/BGLAP activity, increasing glucose levels and triggering glucose intolerance and insulin insensitivity. Also suppresses the transcriptional activity of RUNX2, an upstream activator of osteocalcin/BGLAP. In hepatocytes, promotes gluconeogenesis by acting together with PPARGC1A and CEBPA to activate the expression of genes such as IGFBP1, G6PC and PCK1. Important regulator of cell death acting downstream of CDK1, PKB/AKT1 and STK4/MST1. Promotes neural cell death. Mediates insulin action on adipose tissue. Regulates the expression of adipogenic genes such as PPARG during preadipocyte differentiation and, adipocyte size and adipose tissue-specific gene expression in response to excessive calorie intake. Regulates the transcriptional activity of GADD45A and repair of nitric oxide-damaged DNA in beta-cells. Required for the autophagic cell death induction in response to starvation or oxidative stress in a transcription-independent manner. Mediates the function of MLIP in cardiomyocytes hypertrophy and cardiac remodeling (By similarity). Methylation inhibits AKT1-mediated phosphorylation at Ser-256 and is increased by oxidative stress.;Once in the nucleus, acetylated by CREBBP/EP300. Acetylation diminishes the interaction with target DNA and attenuates the transcriptional activity. It increases the phosphorylation at Ser-256. Deacetylation by SIRT1 results in reactivation of the transcriptional activity. Oxidative stress by hydrogen peroxide treatment appears to promote deacetylation and uncoupling of insulin-induced phosphorylation. By contrast, resveratrol acts independently of acetylation.;Acetylated. Acetylation at Lys-262, Lys-265 and Lys-274 are necessary for autophagic cell death induction. Deacetylated by SIRT2 in response to oxidative stress or serum deprivation, thereby negatively regulating FOXO1-mediated autophagic cell death.;Ubiquitinated by SKP2. Ubiquitination leads to proteasomal degradation.;Phosphorylation by NLK promotes nuclear export and inhibits the transcriptional activity. In response to growth factors, phosphorylation on Thr-24, Ser-256 and Ser-322 by PKB/AKT1 promotes nuclear export and inactivation of transactivational activity. Phosphorylation on Thr-24 is required for binding 14-3-3 proteins. Phosphorylation of Ser-256 decreases DNA-binding activity and promotes the phosphorylation of Thr-24 and Ser-319, permitting phosphorylation of Ser-322 and Ser-325, probably by CDK1, leading to nuclear exclusion and loss of function. Stress signals, such as response to oxygen or nitric oxide, attenuate the PKB/AKT1-mediated phosphorylation leading to nuclear retention. Phosphorylation of Ser-329 is independent of IGF1 and leads to reduced function. Dephosphorylated on Thr-24 and Ser-256 by PP2A in beta-cells under oxidative stress leading to nuclear retention (By similarity). Phosphorylation of Ser-249 by CDK1 disrupts binding of 14-3-3 proteins leading to nuclear accumulation and has no effect on DNA-binding nor transcriptional activity. Phosphorylation by STK4/MST1 on Ser-212, upon oxidative stress, inhibits binding to 14-3-3 proteins and nuclear export.;FOXO1 is phosphorylated by PAK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);FOXO1 is phosphorylated by NLK (Phosphoserine,Phosphothreonine:PTM-0253,PTM-0254);FOXO1 is phosphorylated by ROCK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Insulin signaling pathway;Pathways in cancer;Prostate cancer;MAPK6/MAPK4 signaling;Regulation of gene expression in beta cells;AKT phosphorylates targets in the nucleus;Constitutive Signaling by AKT1 E17K in Cancer;AKT-mediated inactivation of FOXO1A;Interleukin-4 and Interleukin-13 signaling;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes;FOXO-mediated transcription of cell death genes;Regulation of localization of FOXO transcription factors;Regulation of FOXO transcriptional activity by acetylation;FOXO-mediated transcription of cell cycle genes PE1 13 +NX_Q12788 Transducin beta-like protein 3 808 89035 6.44 0 Nucleolus NA NA NA NA Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 16 +NX_Q12789 General transcription factor 3C polypeptide 1 2109 238875 7.01 0 Nucleoplasm;Nucleolus;Nucleus NA Required for RNA polymerase III-mediated transcription. Component of TFIIIC that initiates transcription complex assembly on tRNA and is required for transcription of 5S rRNA and other stable nuclear and cytoplasmic RNAs. Binds to the box B promoter element. NA Belongs to the TFIIIC subunit 1 family. RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter PE1 16 +NX_Q12791 Calcium-activated potassium channel subunit alpha-1 1236 137560 6.66 7 Cell membrane Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in the cochlea, regulation of transmitter release, and innate immunity. In smooth muscles, its activation by high level of Ca(2+), caused by ryanodine receptors in the sarcoplasmic reticulum, regulates the membrane potential. In cochlea cells, its number and kinetic properties partly determine the characteristic frequency of each hair cell and thereby helps to establish a tonotopic map. Kinetics of KCNMA1 channels are determined by alternative splicing, phosphorylation status and its combination with modulating beta subunits. Highly sensitive to both iberiotoxin (IbTx) and charybdotoxin (CTX). Phosphorylated (Probable). Phosphorylation by kinases such as PKA and/or PKG. In smooth muscles, phosphorylation affects its activity.;Palmitoylation by ZDHHC22 and ZDHHC23 within the intracellular linker between the S0 and S1 transmembrane domains regulates localization to the plasma membrane. Depalmitoylated by LYPLA1 and LYPLAL1, leading to retard exit from the trans-Golgi network. Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa1.1/KCNMA1 sub-subfamily. Vascular smooth muscle contraction;Salivary secretion;Pancreatic secretion;Ca2+ activated K+ channels;cGMP effects PE1 10 +NX_Q12792 Twinfilin-1 350 40283 6.48 0 Cytoplasm;Cytosol;Cytoskeleton NA Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G-actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles (By similarity). Phosphorylated on serine and threonine residues. Belongs to the actin-binding proteins ADF family. Twinfilin subfamily. NA PE1 12 +NX_Q12794 Hyaluronidase-1 435 48368 6.31 0 Secreted;Lysosome Mucopolysaccharidosis 9 May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth. NA Belongs to the glycosyl hydrolase 56 family. Glycosaminoglycan degradation;Metabolic pathways;Lysosome;Hyaluronan uptake and degradation;CS/DS degradation;MPS IX - Natowicz syndrome PE1 3 +NX_Q12796 Proline-rich nuclear receptor coactivator 1 327 35225 10.51 0 Nucleoplasm;Nucleolus;Nucleus NA Nuclear receptor coactivator. May play a role in signal transduction. NA Belongs to the PNRC family. PNRC1 subfamily. NA PE1 6 +NX_Q12797 Aspartyl/asparaginyl beta-hydroxylase 758 85863 4.92 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs Membrane-bound Ca(2+)-sensing protein, which is a structural component of the ER-plasma membrane junctions.;Specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins.;Regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells. NA Belongs to the aspartyl/asparaginyl beta-hydroxylase family. Stimuli-sensing channels;Ion homeostasis PE1 8 +NX_Q12798 Centrin-1 172 19570 4.79 0 Centrosome NA Plays a fundamental role in microtubule-organizing center structure and function (PubMed:8175926). Plays a role in sperm cilia formation (By similarity). NA Belongs to the centrin family. NA PE1 18 +NX_Q12799 T-complex protein 10A homolog 353 38267 8.46 0 NA NA NA NA Belongs to the TCP10 family. NA PE1 6 +NX_Q12800 Alpha-globin transcription factor CP2 502 57256 5.53 0 Nucleoplasm;Cytosol;Nucleus NA Binds a variety of cellular and viral promoters including fibrinogen, alpha-globin, SV40 and HIV-1 promoters. Activation of the alpha-globin promoter in erythroid cells is via synergistic interaction with UBP1 (By similarity). Functions as part of the SSP (stage selector protein) complex. Facilitates the interaction of the gamma-globin genes with enhancer elements contained in the locus control region in fetal erythroid cells. Interacts by binding to the stage selector element (SSE) in the proximal gamma-globin promoter. NA Belongs to the grh/CP2 family. CP2 subfamily. NA PE1 12 +NX_Q12802 A-kinase anchor protein 13 2813 307550 5.12 0 Cytoplasm;Cell cortex;Membrane;Cytosol;Nucleus NA Scaffold protein that plays an important role in assembling signaling complexes downstream of several types of G protein-coupled receptors. Activates RHOA in response to signaling via G protein-coupled receptors via its function as Rho guanine nucleotide exchange factor (PubMed:11546812, PubMed:15229649, PubMed:23090968, PubMed:25186459, PubMed:24993829). May also activate other Rho family members (PubMed:11546812). Part of a kinase signaling complex that links ADRA1A and ADRA1B adrenergic receptor signaling to the activation of downstream p38 MAP kinases, such as MAPK11 and MAPK14 (PubMed:17537920, PubMed:23716597, PubMed:21224381). Part of a signaling complex that links ADRA1B signaling to the activation of RHOA and IKBKB/IKKB, leading to increased NF-kappa-B transcriptional activity (PubMed:23090968). Part of a RHOA-dependent signaling cascade that mediates responses to lysophosphatidic acid (LPA), a signaling molecule that activates G-protein coupled receptors and potentiates transcriptional activation of the glucocorticoid receptor NR3C1 (PubMed:16469733). Part of a signaling cascade that stimulates MEF2C-dependent gene expression in response to lysophosphatidic acid (LPA) (By similarity). Part of a signaling pathway that activates MAPK11 and/or MAPK14 and leads to increased transcription activation of the estrogen receptors ESR1 and ESR2 (PubMed:9627117, PubMed:11579095). Part of a signaling cascade that links cAMP and EGFR signaling to BRAF signaling and to PKA-mediated phosphorylation of KSR1, leading to the activation of downstream MAP kinases, such as MAPK1 or MAPK3 (PubMed:21102438). Functions as scaffold protein that anchors cAMP-dependent protein kinase (PKA) and PRKD1. This promotes activation of PRKD1, leading to increased phosphorylation of HDAC5 and ultimately cardiomyocyte hypertrophy (By similarity). Has no guanine nucleotide exchange activity on CDC42, Ras or Rac (PubMed:11546812). Required for normal embryonic heart development, and in particular for normal sarcomere formation in the developing cardiomyocytes (By similarity). Plays a role in cardiomyocyte growth and cardiac hypertrophy in response to activation of the beta-adrenergic receptor by phenylephrine or isoproterenol (PubMed:17537920, PubMed:23090968). Required for normal adaptive cardiac hypertrophy in response to pressure overload (PubMed:23716597). Plays a role in osteogenesis (By similarity). NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 15 +NX_Q12805 EGF-containing fibulin-like extracellular matrix protein 1 493 54641 4.95 0 Extracellular matrix;Mitochondrion;Extracellular space Doyne honeycomb retinal dystrophy Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth. NA Belongs to the fibulin family. Molecules associated with elastic fibres PE1 2 +NX_Q12809 Potassium voltage-gated channel subfamily H member 2 1159 126655 8.2 6 Cell membrane Short QT syndrome 1;Long QT syndrome 2 Has no channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation.;Has no channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation.;Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr) (PubMed:18559421, PubMed:26363003, PubMed:27916661). Phosphorylated on serine and threonine residues. Phosphorylation by PKA inhibits ion conduction. Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.1/KCNH2 sub-subfamily. Voltage gated Potassium channels;Phase 3 - rapid repolarisation PE1 7 +NX_Q12815 Tastin 778 83857 7.2 0 Cytoplasm NA Could be involved with bystin and trophinin in a cell adhesion molecule complex that mediates an initial attachment of the blastocyst to uterine epithelial cells at the time of the embryo implantation. NA NA NA PE1 12 +NX_Q12816 Trophinin 1431 143716 9.18 0 Nucleoplasm;Nucleolus NA Could be involved with bystin and tastin in a cell adhesion molecule complex that mediates an initial attachment of the blastocyst to uterine epithelial cells at the time of the embryo implantation. Directly responsible for homophilic cell adhesion. NA NA NA PE1 X +NX_Q12824 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 385 44141 5.86 0 Nucleoplasm;Nucleus;Nucleolus Coffin-Siris syndrome 3;Rhabdoid tumor predisposition syndrome 1;Schwannomatosis 1 Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1. NA Belongs to the SNF5 family. RMTs methylate histone arginines;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 22 +NX_Q12829 Ras-related protein Rab-40B 278 30956 9.68 0 Cell membrane NA May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the small GTPase superfamily. Rab family. Protein modification; protein ubiquitination.;RAB geranylgeranylation PE1 17 +NX_Q12830 Nucleosome-remodeling factor subunit BPTF 3046 338262 6.15 0 Cytoplasm;Nucleus Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin. Specifically recognizes H3 tails trimethylated on 'Lys-4' (H3K4me3), which mark transcription start sites of virtually all active genes. May also regulate transcription through direct binding to DNA or transcription factors. Phosphorylation enhances DNA-binding.;Highly susceptible to proteolysis. Belongs to the PBTF family. NA PE1 17 +NX_Q12834 Cell division cycle protein 20 homolog 499 54723 9.33 0 Nucleoplasm;Spindle pole;Centrosome;Cytosol NA Required for full ubiquitin ligase activity of the anaphase promoting complex/cyclosome (APC/C) and may confer substrate specificity upon the complex. Is regulated by MAD2L1: in metaphase the MAD2L1-CDC20-APC/C ternary complex is inactive and in anaphase the CDC20-APC/C binary complex is active in degrading substrates. The CDC20-APC/C complex positively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. CDC20-APC/C-induced degradation of NEUROD2 induces presynaptic differentiation. Phosphorylated during mitosis, probably by maturation promoting factor (MPF). Phosphorylated by BUB1 at Ser-41; Ser-72; Ser-92; Ser-153; Thr-157 and Ser-161. Phosphorylated by NEK2.;Ubiquitinated and degraded by the proteasome during spindle assembly checkpoint. Deubiquitinated by USP44, leading to stabilize the MAD2L1-CDC20-APC/C ternary complex, thereby preventing premature activation of the APC/C. Ubiquitinated at Lys-490 during prometaphase. Ubiquitination at Lys-485 and Lys-490 has no effect on its ability to bind the APC/C complex.;Dephosphorylated by CTDP1.;Acetylated. Deacetylated at Lys-66 by SIRT2; deacetylation enhances the interaction of CDC20 with CDC27, leading to activation of anaphase promoting complex/cyclosome (APC/C).;CDC20 is phosphorylated by NEK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the WD repeat CDC20/Fizzy family. Protein modification; protein ubiquitination.;Cell cycle;Oocyte meiosis;Ubiquitin mediated proteolysis;HTLV-I infection;SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;Antigen processing: Ubiquitination & Proteasome degradation;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of Cyclin B;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;APC/C:Cdc20 mediated degradation of mitotic proteins;APC-Cdc20 mediated degradation of Nek2A;Phosphorylation of Emi1;Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Ub-specific processing proteases PE1 1 +NX_Q12836 Zona pellucida sperm-binding protein 4 540 59400 6.23 1 Extracellular matrix;Cell membrane NA Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy. The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP4 may act as a sperm receptor. Proteolytically cleaved before the transmembrane segment to yield the secreted ectodomain incorporated in the zona pellucida. Belongs to the ZP domain family. ZPB subfamily. Interaction With Cumulus Cells And The Zona Pellucida PE1 1 +NX_Q12837 POU domain, class 4, transcription factor 2 409 43087 9.33 0 Cytoplasm;Nucleus speckle;Nucleus NA Tissue-specific DNA-binding transcription factor involved in the development and differentiation of target cells (PubMed:19266028, PubMed:23805044). Functions either as activator or repressor modulating the rate of target gene transcription through RNA polymerase II enzyme in a promoter-dependent manner (PubMed:19266028, PubMed:23805044). Binds to the consensus octamer motif 5'-AT[A/T]A[T/A]T[A/T]A-3' of promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Binds to an octamer site to form a ternary complex with ISL1; cooperates positively with ISL1 and ISL2 to potentiate transcriptional activation of RGC target genes being involved in RGC fate commitment in the developing retina and RGC axon formation and pathfinding. Inhibits DLX1 and DLX2 transcriptional activities preventing DLX1- and DLX2-mediated ability to promote amacrine cell fate specification. In cooperation with TP53 potentiates transcriptional activation of BAX promoter activity increasing neuronal cell apoptosis. Negatively regulates BAX promoter activity in the absence of TP53. Acts as a transcriptional coactivator via its interaction with the transcription factor ESR1 by enhancing its effect on estrogen response element (ERE)-containing promoter. Antagonizes the transcriptional stimulatory activity of POU4F1 by preventing its binding to an octamer motif. Involved in TNFSF11-mediated terminal osteoclast differentiation (By similarity). NA Belongs to the POU transcription factor family. Class-4 subfamily. Regulation of TP53 Activity through Association with Co-factors PE1 4 +NX_Q12840 Kinesin heavy chain isoform 5A 1032 117378 5.65 0 Perikaryon;Nucleoplasm;Cytosol;Spindle;Perinuclear region;Cytoskeleton Amyotrophic lateral sclerosis 25;Spastic paraplegia 10, autosomal dominant;Myoclonus, intractable, neonatal Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complex contributes to the vesicular transport of VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 proteins in neurons. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin subfamily. Dopaminergic synapse;MHC class II antigen presentation;Insulin processing;Kinesins;RHO GTPases activate KTN1;COPI-dependent Golgi-to-ER retrograde traffic PE1 12 +NX_Q12841 Follistatin-related protein 1 308 34986 5.39 0 Cytoplasmic vesicle;Cytosol;Secreted NA May modulate the action of some growth factors on cell proliferation and differentiation. Binds heparin (By similarity). NA NA Signaling by BMP;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 3 +NX_Q12846 Syntaxin-4 297 34180 5.92 1 Cell membrane NA Plasma membrane t-SNARE that mediates docking of transport vesicles. Necessary for the translocation of SLC2A4 from intracellular vesicles to the plasma membrane. Together with STXB3 and VAMP2, may also play a role in docking/fusion of intracellular GLUT4-containing vesicles with the cell surface in adipocytes (By similarity). May also play a role in docking of synaptic vesicles at presynaptic active zones. STX4 is phosphorylated by PRKCD (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);STX4 is phosphorylated by PRKCG (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);STX4 is phosphorylated by PRKCE (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);STX4 is phosphorylated by PRKCB (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the syntaxin family. SNARE interactions in vesicular transport;Vasopressin-regulated water reabsorption;ER-Phagosome pathway;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Disinhibition of SNARE formation;Other interleukin signaling;trans-Golgi Network Vesicle Budding PE1 16 +NX_Q12849 G-rich sequence factor 1 480 53126 5.83 0 Cytoplasm;Mitochondrion matrix;Mitochondrion NA Regulator of post-transcriptional mitochondrial gene expression, required for assembly of the mitochondrial ribosome and for recruitment of mRNA and lncRNA. Binds RNAs containing the 14 base G-rich element. Preferentially binds RNAs transcribed from three contiguous genes on the light strand of mtDNA, the ND6 mRNA, and the long non-coding RNAs for MT-CYB and MT-ND5, each of which contains multiple consensus binding sequences (PubMed:23473033, PubMed:23473034, PubMed:29967381). Involved in the degradosome-mediated decay of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (PubMed:29967381). Acts by unwinding G-quadruplex RNA structures in MT-ncRNA, thus facilitating their degradation by the degradosome (PubMed:29967381). G-quadruplexes (G4) are non-canonical 4 stranded structures formed by transcripts from the light strand of mtDNA (PubMed:29967381). NA NA Viral mRNA Translation PE1 4 +NX_Q12851 Mitogen-activated protein kinase kinase kinase kinase 2 820 91556 5.91 0 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus membrane;Basolateral cell membrane NA Serine/threonine-protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Acts as a MAPK kinase kinase kinase (MAP4K) and is an upstream activator of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway and to a lesser extent of the p38 MAPKs signaling pathway. Required for the efficient activation of JNKs by TRAF6-dependent stimuli, including pathogen-associated molecular patterns (PAMPs) such as polyinosine-polycytidine (poly(IC)), lipopolysaccharides (LPS), lipid A, peptidoglycan (PGN), or bacterial flagellin. To a lesser degree, IL-1 and engagement of CD40 also stimulate MAP4K2-mediated JNKs activation. The requirement for MAP4K2/GCK is most pronounced for LPS signaling, and extends to LPS stimulation of c-Jun phosphorylation and induction of IL-8. Enhances MAP3K1 oligomerization, which may relieve N-terminal mediated MAP3K1 autoinhibition and lead to activation following autophosphorylation. Mediates also the SAP/JNK signaling pathway and the p38 MAPKs signaling pathway through activation of the MAP3Ks MAP3K10/MLK2 and MAP3K11/MLK3. May play a role in the regulation of vesicle targeting or fusion. Regulation of vesicle targeting or fusion. Polyubiquitinated through 'Lys-48'-polyubiquitin chains, allowing proteasomal turnover. Ubiquitination requires the kinase activity of MAP4K2/GCK.;Autophosphorylated in response to tumor necrosis factor (TNF), endotoxins or proinflammatory stimuli. Autophosphorylation leads to activation.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. MAPK signaling pathway PE1 11 +NX_Q12852 Mitogen-activated protein kinase kinase kinase 12 859 93219 6.03 0 Nucleoplasm;Cytoplasm;Cell junction;Cell membrane NA Part of a non-canonical MAPK signaling pathway (PubMed:28111074). Activated by APOE, enhances the AP-1-mediated transcription of APP, via a MAP kinase signal transduction pathway composed of MAP2K7 and MAPK1/ERK2 and MAPK3/ERK1 (PubMed:28111074). May be an activator of the JNK/SAPK pathway. Autophosphorylated on Ser/Thr. Phosphorylated in cytosol under basal conditions and dephosphorylated when membrane-associated (By similarity).;The activity of MAP3K12 can be regulated through its proteasomal degradation. APOE, through a receptor-mediated mechanism, activates MAP3K12 by preventing its proteasomal degradation. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. MAPK signaling pathway PE1 12 +NX_Q12857 Nuclear factor 1 A-type 509 55944 8.66 0 Nucleoplasm;Nucleus Brain malformations with or without urinary tract defects Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication. NA Belongs to the CTF/NF-I family. RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation PE1 1 +NX_Q12860 Contactin-1 1018 113320 5.62 0 Cell membrane Myopathy, congenital, Compton-North Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of neurite outgrowth (By similarity). NA Belongs to the immunoglobulin superfamily. Contactin family. Cell adhesion molecules (CAMs);L1CAM interactions;Activated NOTCH1 Transmits Signal to the Nucleus;NOTCH2 Activation and Transmission of Signal to the Nucleus;Neurofascin interactions PE1 12 +NX_Q12864 Cadherin-17 832 92219 4.99 1 Nucleoplasm;Cell junction;Cell membrane NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. LI-cadherin may have a role in the morphological organization of liver and intestine. Involved in intestinal peptide transport. NA NA Adherens junctions interactions PE1 8 +NX_Q12866 Tyrosine-protein kinase Mer 999 110249 5.51 1 Cell membrane;Membrane;Endoplasmic reticulum;Cytosol;Midbody Retinitis pigmentosa 38 Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to several ligands including LGALS3, TUB, TULP1 or GAS6. Regulates many physiological processes including cell survival, migration, differentiation, and phagocytosis of apoptotic cells (efferocytosis). Ligand binding at the cell surface induces autophosphorylation of MERTK on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with GRB2 or PLCG2 and induces phosphorylation of MAPK1, MAPK2, FAK/PTK2 or RAC1. MERTK signaling plays a role in various processes such as macrophage clearance of apoptotic cells, platelet aggregation, cytoskeleton reorganization and engulfment. Functions in the retinal pigment epithelium (RPE) as a regulator of rod outer segments fragments phagocytosis. Plays also an important role in inhibition of Toll-like receptors (TLRs)-mediated innate immune response by activating STAT1, which selectively induces production of suppressors of cytokine signaling SOCS1 and SOCS3. Autophosphorylated on Tyr-749, Tyr-753 and Tyr-754 in the activation loop allowing full activity. Autophosphorylated on Tyr-872 leading to recruitment of downstream partners of the signaling cascade such as PLCG2 (By similarity). Belongs to the protein kinase superfamily. Tyr protein kinase family. AXL/UFO subfamily. Cell surface interactions at the vascular wall PE1 2 +NX_Q12870 Transcription factor 15 199 20816 9.97 0 Nucleus speckle;Nucleus NA May function as an early transcriptional regulator, involved in the patterning of the mesoderm and in lineage determination of cell types derived from the mesoderm. NA NA NA PE2 20 +NX_Q12872 Splicing factor, suppressor of white-apricot homolog 951 104822 8.11 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA Plays a role as an alternative splicing regulator. Regulate its own expression at the level of RNA processing. Also regulates the splicing of fibronectin and CD45 genes. May act, at least in part, by interaction with other R/S-containing splicing factors. Represses the splicing of MAPT/Tau exon 10. NA NA NA PE1 12 +NX_Q12873 Chromodomain-helicase-DNA-binding protein 3 2000 226592 6.92 0 Centriolar satellite;Nucleolus;Nucleoplasm;Centrosome;Nucleus Snijders Blok-Campeau syndrome Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Required for anchoring centrosomal pericentrin in both interphase and mitosis, for spindle organization and centrosome integrity. NA Belongs to the SNF2/RAD54 helicase family. RNA Polymerase I Transcription Initiation;HDACs deacetylate histones;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Regulation of TP53 Activity through Acetylation;SUMOylation of chromatin organization proteins;Regulation of PTEN gene transcription PE1 17 +NX_Q12874 Splicing factor 3A subunit 3 501 58849 5.27 0 Nucleoplasm;Nucleus speckle;Nucleus NA Involved in pre-mRNA splicing as a component of the splicing factor SF3A complex that contributes to the assembly of the 17S U2 snRNP, and the subsequent assembly of the pre-spliceosome 'E' complex and the pre-catalytic spliceosome 'A' complex (PubMed:8022796, PubMed:10882114, PubMed:11533230). Involved in pre-mRNA splicing as a component of pre-catalytic spliceosome 'B' complexes (PubMed:29360106, PubMed:30315277). NA Belongs to the SF3A3 family. Spliceosome;mRNA Splicing - Major Pathway PE1 1 +NX_Q12879 Glutamate receptor ionotropic, NMDA 2A 1464 165283 6.67 3 Dendritic spine;Cell membrane;Postsynaptic cell membrane;Cytoplasmic vesicle membrane;Synapse Epilepsy, focal, with speech disorder and with or without mental retardation Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:8768735, PubMed:26919761, PubMed:26875626, PubMed:28105280). Sensitivity to glutamate and channel kinetics depend on the subunit composition; channels containing GRIN1 and GRIN2A have higher sensitivity to glutamate and faster kinetics than channels formed by GRIN1 and GRIN2B (PubMed:26919761, PubMed:26875626). Contributes to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning (By similarity). GRIN2A is phosphorylated by EPHB2 (Phosphotyrosine:PTM-0255) Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2A/GRIN2A subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Long-term potentiation;Glutamatergic synapse;Dopaminergic synapse;Alzheimer's disease;Amyotrophic lateral sclerosis (ALS);Systemic lupus erythematosus;Unblocking of NMDA receptors, glutamate binding and activation;Synaptic adhesion-like molecules;Neurexins and neuroligins;MECP2 regulates neuronal receptors and channels;Assembly and cell surface presentation of NMDA receptors;Negative regulation of NMDA receptor-mediated neuronal transmission;Long-term potentiation PE1 16 +NX_Q12882 Dihydropyrimidine dehydrogenase [NADP(+)] 1025 111401 6.8 0 Cytoplasm Dihydropyrimidine dehydrogenase deficiency Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil. NA Belongs to the dihydropyrimidine dehydrogenase family. Amino-acid biosynthesis; beta-alanine biosynthesis.;Pyrimidine metabolism;beta-Alanine metabolism;Pantothenate and CoA biosynthesis;Drug metabolism - other enzymes;Metabolic pathways;Pyrimidine catabolism PE1 1 +NX_Q12884 Prolyl endopeptidase FAP 760 87713 6.21 1 Cytoplasm;Cell membrane;Secreted;Lamellipodium membrane;Cell surface;Membrane;Invadopodium membrane;Ruffle membrane NA Cell surface glycoprotein serine protease that participates in extracellular matrix degradation and involved in many cellular processes including tissue remodeling, fibrosis, wound healing, inflammation and tumor growth. Both plasma membrane and soluble forms exhibit post-proline cleaving endopeptidase activity, with a marked preference for Ala/Ser-Gly-Pro-Ser/Asn/Ala consensus sequences, on substrate such as alpha-2-antiplasmin SERPINF2 and SPRY2 (PubMed:14751930, PubMed:16223769, PubMed:16480718, PubMed:16410248, PubMed:17381073, PubMed:18095711, PubMed:21288888, PubMed:24371721). Degrade also gelatin, heat-denatured type I collagen, but not native collagen type I and IV, vibronectin, tenascin, laminin, fibronectin, fibrin or casein (PubMed:9065413, PubMed:2172980, PubMed:7923219, PubMed:10347120, PubMed:10455171, PubMed:12376466, PubMed:16223769, PubMed:16651416, PubMed:18095711). Have also dipeptidyl peptidase activity, exhibiting the ability to hydrolyze the prolyl bond two residues from the N-terminus of synthetic dipeptide substrates provided that the penultimate residue is proline, with a preference for Ala-Pro, Ile-Pro, Gly-Pro, Arg-Pro and Pro-Pro (PubMed:10347120, PubMed:10593948, PubMed:16175601, PubMed:16223769, PubMed:16651416, PubMed:16410248, PubMed:17381073, PubMed:21314817, PubMed:24371721, PubMed:24717288). Natural neuropeptide hormones for dipeptidyl peptidase are the neuropeptide Y (NPY), peptide YY (PYY), substance P (TAC1) and brain natriuretic peptide 32 (NPPB) (PubMed:21314817). The plasma membrane form, in association with either DPP4, PLAUR or integrins, is involved in the pericellular proteolysis of the extracellular matrix (ECM), and hence promotes cell adhesion, migration and invasion through the ECM. Plays a role in tissue remodeling during development and wound healing. Participates in the cell invasiveness towards the ECM in malignant melanoma cancers. Enhances tumor growth progression by increasing angiogenesis, collagen fiber degradation and apoptosis and by reducing antitumor response of the immune system. Promotes glioma cell invasion through the brain parenchyma by degrading the proteoglycan brevican. Acts as a tumor suppressor in melanocytic cells through regulation of cell proliferation and survival in a serine protease activity-independent manner. The N-terminus may be blocked.;N-glycosylated. Belongs to the peptidase S9B family. NA PE1 2 +NX_Q12887 Protoheme IX farnesyltransferase, mitochondrial 443 48910 9.36 7 Mitochondrion membrane;Cytosol;Mitochondrion;Nucleolus Leigh syndrome;Mitochondrial complex IV deficiency Converts protoheme IX and farnesyl diphosphate to heme O. NA Belongs to the UbiA prenyltransferase family. Oxidative phosphorylation;Porphyrin and chlorophyll metabolism;Metabolic pathways;Heme biosynthesis PE1 17 +NX_Q12888 TP53-binding protein 1 1972 213574 4.62 0 Nucleus;Kinetochore;Chromosome NA Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis (PubMed:12364621, PubMed:22553214, PubMed:23333306, PubMed:17190600, PubMed:21144835, PubMed:28241136). Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1 (PubMed:22553214, PubMed:23727112, PubMed:23333306). In response to DSBs, phosphorylation by ATM promotes interaction with RIF1 and dissociation from NUDT16L1/TIRR, leading to recruitment to DSBs sites (PubMed:28241136). Recruited to DSBs sites by recognizing and binding histone H2A monoubiquitinated at 'Lys-15' (H2AK15Ub) and histone H4 dimethylated at 'Lys-20' (H4K20me2), two histone marks that are present at DSBs sites (PubMed:23760478, PubMed:28241136, PubMed:17190600). Required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs (PubMed:23345425). Participates to the repair and the orientation of the broken DNA ends during CSR (By similarity). In contrast, it is not required for classic NHEJ and V(D)J recombination (By similarity). Promotes NHEJ of dysfunctional telomeres via interaction with PAXIP1 (PubMed:23727112). Asymmetrically dimethylated on Arg residues by PRMT1. Methylation is required for DNA binding.;Phosphorylated at basal level in the absence of DNA damage (PubMed:11042216, PubMed:11331310). Phosphorylated by ATM in response to DNA damage: phosphorylation at different sites promotes interaction with different set of proteins: phosphorylation at the N-terminus by ATM (residues from 6-178) promotes interaction with PAXIP1 and non-homologous end joining (NHEJ) of dysfunctional telomeres (PubMed:23727112). Phosphorylation by ATM at residues that are located more C-terminus (residues 300-650) leads to promote interaction with RIF1 (PubMed:23727112, PubMed:23333306, PubMed:28241136). Interaction with RIF1 leads to disrupt interaction with NUDT16L1/TIRR (PubMed:28241136). Phosphorylation at Thr-1609 and Ser-1618 in the UDR motif blocks interaction with H2AK15ub (PubMed:24703952). Dephosphorylated by PPP4C (PubMed:24703952). Hyperphosphorylation during mitosis correlates with its exclusion from chromatin and DNA lesions. Hyperphosphorylated in an ATR-dependent manner in response to DNA damage induced by UV irradiation (PubMed:17553757, PubMed:21144835). Dephosphorylated by PPP5C (PubMed:19176521).;TP53BP1 is phosphorylated by MAPK3 NA G2/M DNA damage checkpoint;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);SUMOylation of transcription factors PE1 15 +NX_Q12889 Oviduct-specific glycoprotein 678 75421 8.9 0 Secretory vesicle NA Binds to oocyte zona pellucida in vivo. May play a role in the fertilization process and/or early embryonic development. NA Belongs to the glycosyl hydrolase 18 family. Interaction With Cumulus Cells And The Zona Pellucida PE1 1 +NX_Q12891 Hyaluronidase-2 473 53860 8.47 0 Cell membrane NA Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product which is further hydrolyzed by sperm hyaluronidase to give small oligosaccharides. Displays very low levels of activity. Associates with and negatively regulates MST1R. NA Belongs to the glycosyl hydrolase 56 family. Glycosaminoglycan degradation;Metabolic pathways;Hyaluronan uptake and degradation PE1 3 +NX_Q12893 Transmembrane protein 115 351 38197 8.31 4 Golgi stack membrane;Golgi apparatus NA May play a role in retrograde transport of proteins from the Golgi to the endoplasmic reticulum. May indirectly play a role in protein glycosylation in the Golgi. NA Belongs to the TMEM115 family. COPI-mediated anterograde transport PE1 3 +NX_Q12894 Interferon-related developmental regulator 2 506 54814 8.21 0 NA NA NA NA Belongs to the IFRD family. NA PE1 3 +NX_Q12899 Tripartite motif-containing protein 26 539 62166 4.98 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA E3 ubiquitin-protein ligase which regulates the IFN-beta production and antiviral response downstream of various DNA-encoded pattern-recognition receptors (PRRs). Promotes nuclear IRF3 ubiquitination and proteasomal degradation. Bridges together TBK1 and NEMO during the innate response to viral infection leading to the activation of TBK1. Autoubiquitinates upon viral infection. In turn, autoubiquitinated TRIM26 recruits NEMO and bridges TBK1-NEMO interaction. Belongs to the TRIM/RBCC family. Interferon gamma signaling PE1 6 +NX_Q12901 Zinc finger protein 155 538 62081 8.81 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q12904 Aminoacyl tRNA synthase complex-interacting multifunctional protein 1 312 34353 8.61 0 Golgi apparatus;Secreted;Endoplasmic reticulum;Cytosol;Nucleus Leukodystrophy, hypomyelinating, 3 Non-catalytic component of the multisynthase complex. Stimulates the catalytic activity of cytoplasmic arginyl-tRNA synthase (PubMed:10358004). Binds tRNA. Possesses inflammatory cytokine activity (PubMed:11306575). Negatively regulates TGF-beta signaling through stabilization of SMURF2 by binding to SMURF2 and inhibiting its SMAD7-mediated degradation (By similarity). Involved in glucose homeostasis through induction of glucagon secretion at low glucose levels (By similarity). Promotes dermal fibroblast proliferation and wound repair (PubMed:16472771). Regulates KDELR1-mediated retention of HSP90B1/gp96 in the endoplasmic reticulum (By similarity). Plays a role in angiogenesis by inducing endothelial cell migration at low concentrations and endothelian cell apoptosis at high concentrations (PubMed:12237313). Induces maturation of dendritic cells and monocyte cell adhesion (PubMed:11818442). Modulates endothelial cell responses by degrading HIF-1A through interaction with PSMA7 (PubMed:19362550). Cleaved by caspase-7 in response to apoptosis to produce EMAP-II. NA Cytosolic tRNA aminoacylation;Selenoamino acid metabolism PE1 4 +NX_Q12905 Interleukin enhancer-binding factor 2 390 43062 5.19 0 Nucleoplasm;Nucleolus;Cytoplasm;Nucleus NA Appears to function predominantly as a heterodimeric complex with ILF3. This complex may regulate transcription of the IL2 gene during T-cell activation. It can also promote the formation of stable DNA-dependent protein kinase holoenzyme complexes on DNA. Essential for the efficient reshuttling of ILF3 (isoform 1 and isoform 2) into the nucleus. NA NA Neutrophil degranulation PE1 1 +NX_Q12906 Interleukin enhancer-binding factor 3 894 95338 8.86 0 Cytoplasm;Mitochondrion;Nucleolus;Nucleoplasm;Nucleus NA RNA-binding protein that plays an essential role in the biogenesis of circular RNAs (circRNAs) which are produced by back-splicing circularization of pre-mRNAs. Within the nucleus, promotes circRNAs processing by stabilizing the regulatory elements residing in the flanking introns of the circularized exons. Plays thereby a role in the back-splicing of a subset of circRNAs (PubMed:28625552). As a consequence, participates in a wide range of transcriptional and post-transcriptional processes. Binds to poly-U elements and AU-rich elements (AREs) in the 3'-UTR of target mRNAs (PubMed:14731398). Upon viral infection, ILF3 accumulates in the cytoplasm and participates in the innate antiviral response (PubMed:21123651). Mechanistically, ILF3 becomes phosphorylated and activated by the double-stranded RNA-activated protein kinase/PKR which releases ILF3 from cellular mature circRNAs. In turn, unbound ILF3 molecules are able to interact with and thus inhibit viral mRNAs (PubMed:21123651, PubMed:28625552). Phosphorylated at Thr-188 and Thr-315 by PKR in response to certain RNA viruses. This phosphorylation results in the dissociation of ILF2 from the ILF2-ILF3 complex resulting in a cytoplasmic sequestration of ILF3 where it can bind to viral RNAs and impede viral replication.;Methylated by protein arginine N-methyltransferase 1. NA NA PE1 19 +NX_Q12907 Vesicular integral-membrane protein VIP36 356 40229 6.46 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane NA Plays a role as an intracellular lectin in the early secretory pathway. Interacts with N-acetyl-D-galactosamine and high-mannose type glycans and may also bind to O-linked glycans. Involved in the transport and sorting of glycoproteins carrying high mannose-type glycans (By similarity). NA NA Protein processing in endoplasmic reticulum;COPII-mediated vesicle transport;Cargo concentration in the ER PE1 5 +NX_Q12908 Ileal sodium/bile acid cotransporter 348 37714 6.79 7 Membrane Primary bile acid malabsorption Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine. Plays a key role in cholesterol metabolism. NA Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. Bile secretion;Recycling of bile acids and salts PE1 13 +NX_Q12912 Lymphoid-restricted membrane protein 555 62122 5.62 1 Cytoplasm;Endoplasmic reticulum membrane;Chromosome;Membrane;Nucleoplasm;Spindle pole;Nucleus envelope;Centrosome;Cytoplasmic vesicle;Cytosol NA Plays a role in the delivery of peptides to major histocompatibility complex (MHC) class I molecules; this occurs in a transporter associated with antigen processing (TAP)-independent manner. May play a role in taste signal transduction via ITPR3. May play a role during fertilization in pronucleus congression and fusion. The removal of the C-terminal lumenal domain occurs by proteolytic processing. Belongs to the LRMP family. Neutrophil degranulation PE1 12 +NX_Q12913 Receptor-type tyrosine-protein phosphatase eta 1337 145941 5.38 1 Ruffle membrane;Cell junction;Cell membrane NA Tyrosine phosphatase which dephosphorylates or contributes to the dephosphorylation of CTNND1, FLT3, PDGFRB, MET, RET (variant MEN2A), KDR, LYN, SRC, MAPK1, MAPK3, EGFR, TJP1, OCLN, PIK3R1 and PIK3R2. Plays a role in cell adhesion, migration, proliferation and differentiation. Involved in vascular development. Regulator of macrophage adhesion and spreading. Positively affects cell-matrix adhesion. Positive regulator of platelet activation and thrombosis. Negative regulator of cell proliferation. Negative regulator of PDGF-stimulated cell migration; through dephosphorylation of PDGFR. Positive regulator of endothelial cell survival, as well as of VEGF-induced SRC and AKT activation; through KDR dephosphorylation. Negative regulator of EGFR signaling pathway; through EGFR dephosphorylation. Enhances the barrier function of epithelial junctions during reassembly. Negatively regulates T-cell receptor (TCR) signaling. Upon T-cell TCR activation, it is up-regulated and excluded from the immunological synapses, while upon T-cell-antigen presenting cells (APC) disengagement, it is no longer excluded and can dephosphorylate PLCG1 and LAT to down-regulate prolongation of signaling. N- and O-glycosylated. Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily. Adherens junction;Phosphorylation of CD3 and TCR zeta chains;Neutrophil degranulation;Negative regulation of MET activity PE1 11 +NX_Q12918 Killer cell lectin-like receptor subfamily B member 1 225 25415 5.95 1 Membrane;Nucleoplasm;Cytosol NA Plays an inhibitory role on natural killer (NK) cells cytotoxicity. Activation results in specific acid sphingomyelinase/SMPD1 stimulation with subsequent marked elevation of intracellular ceramide. Activation also leads to AKT1/PKB and RPS6KA1/RSK1 kinases stimulation as well as markedly enhanced T-cell proliferation induced by anti-CD3. Acts as a lectin that binds to the terminal carbohydrate Gal-alpha(1,3)Gal epitope as well as to the N-acetyllactosamine epitope. Binds also to CLEC2D/LLT1 as a ligand and inhibits NK cell-mediated cytotoxicity as well as interferon-gamma secretion in target cells. N-glycosylated. Contains sialic acid residues. NA Malaria;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 12 +NX_Q12923 Tyrosine-protein phosphatase non-receptor type 13 2485 276906 5.99 0 Nucleolus;Nucleoplasm;Lamellipodium;Cytosol;Nucleus;Cytoskeleton NA Tyrosine phosphatase which regulates negatively FAS-induced apoptosis and NGFR-mediated pro-apoptotic signaling (PubMed:15611135). May regulate phosphoinositide 3-kinase (PI3K) signaling through dephosphorylation of PIK3R2 (PubMed:23604317). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily. Synthesis of PIPs at the plasma membrane;Interleukin-37 signaling PE1 4 +NX_Q12926 ELAV-like protein 2 359 39504 9.22 0 NA NA RNA-binding protein that binds to the 3' untranslated region (3'UTR) of target mRNAs (By similarity). Seems to recognize a GAAA motif (By similarity). Can bind to its own 3'UTR, the FOS 3'UTR and the ID 3'UTR (By similarity). NA Belongs to the RRM elav family. mRNA Splicing - Major Pathway PE1 9 +NX_Q12929 Epidermal growth factor receptor kinase substrate 8 822 91882 7.1 0 Golgi apparatus;Cell cortex;Synaptosome;Growth cone;Stereocilium;Ruffle membrane Deafness, autosomal recessive, 102 Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Depending on its association with other signal transducers, can regulate different processes. Together with SOS1 and ABI1, forms a trimeric complex that participates in transduction of signals from Ras to Rac by activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. Acts as a direct regulator of actin dynamics by binding actin filaments and has both barbed-end actin filament capping and actin bundling activities depending on the context. Displays barbed-end actin capping activity when associated with ABI1, thereby regulating actin-based motility process: capping activity is auto-inhibited and inhibition is relieved upon ABI1 interaction. Also shows actin bundling activity when associated with BAIAP2, enhancing BAIAP2-dependent membrane extensions and promoting filopodial protrusions. Involved in the regulation of processes such as axonal filopodia growth, stereocilia length, dendritic cell migration and cancer cell migration and invasion. Acts as a regulator of axonal filopodia formation in neurons: in the absence of neurotrophic factors, negatively regulates axonal filopodia formation via actin-capping activity. In contrast, it is phosphorylated in the presence of BDNF leading to inhibition of its actin-capping activity and stimulation of filopodia formation. Component of a complex with WHRN and MYO15A that localizes at stereocilia tips and is required for elongation of the stereocilia actin core. Indirectly involved in cell cycle progression; its degradation following ubiquitination being required during G2 phase to promote cell shape changes. Phosphorylation at Ser-625 and Thr-629 by MAPK following BDNF treatment promotes removal from actin and filopodia formation (By similarity). Phosphorylated by several receptor tyrosine kinases.;Ubiquitinated by the SCF(FBXW5) E3 ubiquitin-protein ligase complex during G2 phase, leading to its transient degradation and subsequent cell shape changes required to allow mitotic progression. Reappears at the midzone of dividing cells (By similarity). Belongs to the EPS8 family. NA PE1 12 +NX_Q12931 Heat shock protein 75 kDa, mitochondrial 704 80110 8.3 0 Mitochondrion matrix;Mitochondrion inner membrane;Mitochondrion NA Chaperone that expresses an ATPase activity. Involved in maintaining mitochondrial function and polarization, downstream of PINK1 and mitochondrial complex I. Is a negative regulator of mitochondrial respiration able to modulate the balance between oxidative phosphorylation and aerobic glycolysis. The impact of TRAP1 on mitochondrial respiration is probably mediated by modulation of mitochondrial SRC and inhibition of SDHA. TRAP1 is phosphorylated by SRC (Phosphotyrosine:PTM-0255) Belongs to the heat shock protein 90 family. Respiratory electron transport PE1 16 +NX_Q12933 TNF receptor-associated factor 2 501 55859 7.66 0 Cytoplasm;Cytosol NA Regulates activation of NF-kappa-B and JNK and plays a central role in the regulation of cell survival and apoptosis. Required for normal antibody isotype switching from IgM to IgG. Has E3 ubiquitin-protein ligase activity and promotes 'Lys-63'-linked ubiquitination of target proteins, such as BIRC3, RIPK1 and TICAM1. Is an essential constituent of several E3 ubiquitin-protein ligase complexes, where it promotes the ubiquitination of target proteins by bringing them into contact with other E3 ubiquitin ligases. Regulates BIRC2 and BIRC3 protein levels by inhibiting their autoubiquitination and subsequent degradation; this does not depend on the TRAF2 RING-type zinc finger domain. Plays a role in mediating activation of NF-kappa-B by EIF2AK2/PKR. In complex with BIRC2 or BIRC3, promotes ubiquitination of IKBKE. Phosphorylated at several serine residues within the first 128 amino acid residues. Phosphorylated at Thr-117 in response to signaling via TNF and TNFRSF1A. Phosphorylation at Thr-117 is required for 'Lys-63'-linked polyubiquitination, but not for 'Lys-48'-linked polyubiquitination. Phosphorylation at Thr-117 is important for interaction with IKKA and IKKB, activation of IKK and subsequent activation of NF-kappa-B.;Undergoes both 'Lys-48'-linked and 'Lys-63'-linked polyubiquitination. Polyubiquitinated via 'Lys-63'-linked ubiquitin in response to TNF signaling; this requires prior phosphorylation at Thr-117. 'Lys-63'-linked polyubiquitination promotes TRAF2-mediated activation of NF-kappa-B. Can be polyubiquitinated at several Lys residues via 'Lys-48'-linked ubiquitin chains in response to TNF signaling, leading to proteasomal degradation. Autoubiquitinated, leading to its subsequent proteasomal degradation. Polyubiquitinated by BIRC2 and SIAH2, leading to its subsequent proteasomal degradation. Deubiquitinated by CYLD, a protease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Belongs to the TNF receptor-associated factor family. A subfamily. Protein modification; protein ubiquitination.;MAPK signaling pathway;Protein processing in endoplasmic reticulum;Apoptosis;Osteoclast differentiation;RIG-I-like receptor signaling pathway;Adipocytokine signaling pathway;Hepatitis C;Herpes simplex infection;Pathways in cancer;Small cell lung cancer;TNFR2 non-canonical NF-kB pathway;TRAF6 mediated IRF7 activation;TRAF6 mediated NF-kB activation;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway;TNFR1-induced proapoptotic signaling;Caspase activation via Death Receptors in the presence of ligand;Regulation by c-FLIP;RIPK1-mediated regulated necrosis;CASP8 activity is inhibited;Dimerization of procaspase-8;TNF signaling;Regulation of necroptotic cell death;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;Ub-specific processing proteases PE1 9 +NX_Q12934 Filensin 665 74544 5.09 0 Cytosol;Cell cortex;Cytoskeleton;Cell membrane Cataract 33, multiple types NA NA Belongs to the intermediate filament family. NA PE1 20 +NX_Q12946 Forkhead box protein F1 379 40122 9.24 0 Nucleoplasm;Nucleus Alveolar capillary dysplasia with misalignment of pulmonary veins Probable transcription activator for a number of lung-specific genes. NA NA NA PE1 16 +NX_Q12947 Forkhead box protein F2 444 45993 9.2 0 Nucleus NA Probable transcription activator for a number of lung-specific genes (PubMed:8626802). Mediates up-regulation of the E3 ligase IRF2BPL and drives ubiquitination and degradation of CTNNB1 (PubMed:29374064). NA NA NA PE1 6 +NX_Q12948 Forkhead box protein C1 553 56789 8.7 0 Nucleoplasm;Cytosol;Nucleus Axenfeld-Rieger syndrome 3;Anterior segment dysgenesis 3 DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development (PubMed:11782474, PubMed:15299087, PubMed:15684392, PubMed:16492674, PubMed:27907090, PubMed:14506133, PubMed:14578375, PubMed:15277473, PubMed:16449236, PubMed:17210863, PubMed:19793056, PubMed:19279310, PubMed:25786029, PubMed:27804176). Acts either as a transcriptional activator or repressor (PubMed:11782474). Binds to the consensus binding site 5'-[G/C][A/T]AAA[T/C]AA[A/C]-3' in promoter of target genes (PubMed:7957066, PubMed:11782474, PubMed:12533514, PubMed:14506133, PubMed:19793056, PubMed:27804176). Upon DNA-binding, promotes DNA bending (PubMed:7957066, PubMed:14506133). Acts as a transcriptional coactivator (PubMed:26565916). Stimulates Indian hedgehog (Ihh)-induced target gene expression mediated by the transcription factor GLI2, and hence regulates endochondral ossification (By similarity). Acts also as a transcriptional coregulator by increasing DNA-binding capacity of GLI2 in breast cancer cells (PubMed:26565916). Regulates FOXO1 through binding to a conserved element, 5'-GTAAACAAA-3' in its promoter region, implicating FOXC1 as an important regulator of cell viability and resistance to oxidative stress in the eye (PubMed:17993506). Cooperates with transcription factor FOXC2 in regulating expression of genes that maintain podocyte integrity (By similarity). Promotes cell growth inhibition by stopping the cell cycle in the G1 phase through TGFB1-mediated signals (PubMed:12408963). Involved in epithelial-mesenchymal transition (EMT) induction by increasing cell proliferation, migration and invasion (PubMed:20406990, PubMed:22991501). Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). Plays a role in the gene regulatory network essential for epidermal keratinocyte terminal differentiation (PubMed:27907090). Essential developmental transcriptional factor required for mesoderm-derived tissues, such as the somites, skin, bone and cartilage. Positively regulates CXCL12 and stem cell factor expression in bone marrow mesenchymal progenitor cells, and hence plays a role in the development and maintenance of mesenchymal niches for haematopoietic stem and progenitor cells (HSPC). Plays a role in corneal transparency by preventing both blood vessel and lymphatic vessel growth during embryonic development in a VEGF-dependent manner. Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). May function as a tumor suppressor (PubMed:12408963). Sumoylated preferentially with SUMO2 or SUMO3 (PubMed:22493429). Desumoylated by SENP2 (PubMed:22493429).;Ubiquitinated, leading to its proteasomal degradation (PubMed:16492674).;Phosphorylated (PubMed:11782474, PubMed:19279310, PubMed:25786029). Phosphorylated on Ser-272 in response to epidermal growth factor (EGF) in a ERK1/2 MAPK-dependent signaling pathway; phosphorylation contributes to its protein stability and transcriptional activity (PubMed:16492674). NA NA PE1 6 +NX_Q12950 Forkhead box protein D4 439 47309 9.38 0 Nucleus NA NA NA NA NA PE2 9 +NX_Q12951 Forkhead box protein I1 378 40973 5.89 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the development of the endolymphatic system in the inner ear. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules (By similarity). NA NA NA PE1 5 +NX_Q12952 Forkhead box protein L1 345 36490 9.64 0 Nucleus NA Transcription factor required for proper proliferation and differentiation in the gastrointestinal epithelium. Target gene of the hedgehog (Hh) signaling pathway via GLI2 AND GLI3 transcription factors (By similarity). NA NA NA PE1 16 +NX_Q12955 Ankyrin-3 4377 480410 6.07 0 Golgi apparatus;T-tubule;Cell membrane;Postsynaptic cell membrane;Lysosome;Axon;Sarcolemma;Cytoskeleton Mental retardation, autosomal recessive 37 In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (PubMed:23903368).;May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin. NA NA Interaction between L1 and Ankyrins;COPI-mediated anterograde transport PE1 10 +NX_Q12959 Disks large homolog 1 904 100455 5.51 0 Cytoplasm;Endoplasmic reticulum membrane;Cell membrane;Basolateral cell membrane;Cell junction;Membrane;Postsynaptic density;Synapse;Cytoplasmic vesicle;Apical cell membrane;Sarcolemma NA Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. Functional regulator of Kv1.5 channel. During long-term depression in hippocampal neurons, it recruits ADAM10 to the plasma membrane (PubMed:23676497). Phosphorylated by MAPK12. Phosphorylation of Ser-232 regulates association with GRIN2A (By similarity). Belongs to the MAGUK family. T cell receptor signaling pathway;HTLV-I infection;RAF/MAP kinase cascade;Unblocking of NMDA receptors, glutamate binding and activation;Ras activation upon Ca2+ influx through NMDA receptor;Trafficking of AMPA receptors;NrCAM interactions;Activation of Ca-permeable Kainate Receptor;Synaptic adhesion-like molecules;Assembly and cell surface presentation of NMDA receptors;Negative regulation of NMDA receptor-mediated neuronal transmission;Long-term potentiation PE1 3 +NX_Q12962 Transcription initiation factor TFIID subunit 10 218 21711 6.12 0 Nucleoplasm;Nucleus NA TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TIIFD is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Lysine deamination at Lys-189 to form allysine is mediated by LOXL2. Allysine formation by LOXL2 results in release of TAF10 from promoters, leading to inhibition of TFIID-dependent transcription.;Monomethylated at Lys-189 by SETD7, leading to increased affinity for RNA polymerase II. Belongs to the TAF10 family. Basal transcription factors;Herpes simplex infection;HATs acetylate histones;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;Regulation of TP53 Activity through Phosphorylation;Ub-specific processing proteases PE1 11 +NX_Q12965 Unconventional myosin-Ie 1108 127062 9.01 0 Cytoplasm;Clathrin-coated vesicle;Cell junction;Cytoplasmic vesicle;Cytoskeleton Focal segmental glomerulosclerosis 6 Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. Binds to membranes containing anionic phospholipids via its tail domain. Required for normal morphology of the glomerular basement membrane, normal development of foot processes by kidney podocytes and normal kidney function. In dendritic cells, may control the movement of class II-containing cytoplasmic vesicles along the actin cytoskeleton by connecting them with the actin network via ARL14EP and ARL14. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. NA PE1 15 +NX_Q12967 Ral guanine nucleotide dissociation stimulator 914 100607 5.52 0 Nucleoplasm;Cytoplasm;Nucleus NA Stimulates the dissociation of GDP from the Ras-related RalA and RalB GTPases which allows GTP binding and activation of the GTPases. Interacts and acts as an effector molecule for R-Ras, H-Ras, K-Ras, and Rap. NA NA Pathways in cancer;Colorectal cancer;Pancreatic cancer;p38MAPK events PE1 9 +NX_Q12968 Nuclear factor of activated T-cells, cytoplasmic 3 1075 115594 5.91 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Acts as a regulator of transcriptional activation. Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 (PubMed:18815128). Along with NFATC4, involved in embryonic heart development (By similarity). Phosphorylated by NFATC-kinase; dephosphorylated by calcineurin.;NFATC3 is phosphorylated by CSNK1A1 NA Wnt signaling pathway;Axon guidance;VEGF signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;HTLV-I infection;FCERI mediated Ca+2 mobilization;CLEC7A (Dectin-1) induces NFAT activation;Calcineurin activates NFAT PE1 16 +NX_Q12972 Nuclear inhibitor of protein phosphatase 1 351 38479 6.87 0 Cytoplasm;Nucleoplasm;Nucleus speckle;Nucleus NA Is a site-specific single-strand endoribonuclease that cleaves single strand RNA 3' to purines and pyrimidines in A+U-rich regions. It generates 5'-phosphate termini at the site of cleavage. This isoform does not inhibit PP-1. May be implicated in mRNA splicing.;Inhibitor subunit of the major nuclear protein phosphatase-1 (PP-1). It has RNA-binding activity but does not cleave RNA and may target PP-1 to RNA-associated substrates. May also be involved in pre-mRNA splicing. Binds DNA and might act as a transcriptional repressor. Seems to be required for cell proliferation. May be inactivated by phosphorylation on Ser-199 or Ser-204 (By similarity). Phosphorylated by Lyn in vitro on Tyr-264, and also on Tyr-335 in the presence of RNA. NA NA PE1 1 +NX_Q12974 Protein tyrosine phosphatase type IVA 2 167 19127 8.67 0 Cytoplasm;Early endosome;Cell membrane NA Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. Promotes tumors. Inhibits geranylgeranyl transferase type II activity by blocking the association between RABGGTA and RABGGTB. Farnesylated. Farnesylation is required for membrane targeting and for interaction with RABGGTB. Unfarnesylated forms are redirected to the nucleus and cytosol. Belongs to the protein-tyrosine phosphatase family. RAB geranylgeranylation PE1 1 +NX_Q12979 Active breakpoint cluster region-related protein 859 97598 6.12 0 Dendritic spine;Nucleoplasm;Synapse;Cytosol;Axon NA Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form (PubMed:7479768, PubMed:17116687). The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GDP-bound to the GTP-bound form (PubMed:7479768). Functions as an important negative regulator of neuronal RAC1 activity (By similarity). Regulates macrophage functions such as CSF-1 directed motility and phagocytosis through the modulation of RAC1 activity (By similarity). NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 17 +NX_Q12980 GATOR complex protein NPRL3 569 63605 6.5 0 Cytosol;Lysosome membrane Epilepsy, familial focal, with variable foci 3 As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway. NA Belongs to the NPR3 family. NA PE1 16 +NX_Q12981 Vesicle transport protein SEC20 228 26132 9.06 1 Mitochondrion membrane;Endoplasmic reticulum;Endoplasmic reticulum membrane NA As part of a SNARE complex may be involved in endoplasmic reticulum membranes fusion and be required for the maintenance of endoplasmic reticulum organization (PubMed:15272311). Plays also a role in apoptosis (PubMed:7954800, PubMed:15272311, PubMed:23896122). It is for instance required for endoplasmic reticulum stress-induced apoptosis (PubMed:23896122). As a substrate of RNF185 interacting with SQSTM1, might also be involved in mitochondrial autophagy (Probable). Polyubiquitinated (PubMed:21931693, PubMed:23896122). 'Lys-63'-linked polyubiquitination by RNF185 increases the interaction with the autophagy receptor SQSTM1 (PubMed:21931693). Undergoes 'Lys-29'- and 'Lys-63'-linked polyubiquitination by RNF186 that may regulate BNIP1 localization to the mitochondrion (PubMed:23896122). Belongs to the SEC20 family. SNARE interactions in vesicular transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 5 +NX_Q12982 BCL2/adenovirus E1B 19 kDa protein-interacting protein 2 314 36018 4.7 0 Cytoplasm;Perinuclear region NA Implicated in the suppression of cell death. Interacts with the BCL-2 and adenovirus E1B 19 kDa proteins. NA NA Myogenesis PE1 15 +NX_Q12983 BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 259 27832 6.66 1 Mitochondrion outer membrane;Cytosol;Mitochondrion NA Apoptosis-inducing protein that can overcome BCL2 suppression. May play a role in repartitioning calcium between the two major intracellular calcium stores in association with BCL2. Involved in mitochondrial quality control via its interaction with SPATA18/MIEAP: in response to mitochondrial damage, participates in mitochondrial protein catabolic process (also named MALM) leading to the degradation of damaged proteins inside mitochondria. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix. Plays an important role in the calprotectin (S100A8/A9)-induced cell death pathway. NA Belongs to the NIP3 family. Legionellosis PE1 10 +NX_Q12986 Transcriptional repressor NF-X1 1120 124395 8.67 0 Nucleoplasm;Cytosol;Nucleus NA Binds to the X-box motif of TERT promoter and represses its expression. Together with PABPC1 or PABPC4, isoform 1 acts as a coactivator for TERT expression. Mediates E2-dependent ubiquitination.;Binds to the X-box motif of MHC class II genes and represses their expression. May play an important role in regulating the duration of an inflammatory response by limiting the period in which MHC class II molecules are induced by interferon-gamma. Is polyubiquitinated in the presence of HPV16 E6 protein; which leads to proteasomal degradation.;Is not polyubiquitinated. Belongs to the NFX1 family. NA PE1 9 +NX_Q12988 Heat shock protein beta-3 150 16966 5.66 0 Cytoplasm;Nucleus speckle;Nucleus Neuronopathy, distal hereditary motor, 2C Inhibitor of actin polymerization. NA Belongs to the small heat shock protein (HSP20) family. NA PE1 5 +NX_Q12996 Cleavage stimulation factor subunit 3 717 82922 8.26 0 Nucleoplasm;Nucleus NA One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs. NA NA mRNA surveillance pathway;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Processing of Intronless Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 11 +NX_Q12999 Tetraspanin-31 210 23053 8.3 4 Golgi apparatus;Membrane;Nucleoplasm;Cytosol;Cytoskeleton NA NA NA Belongs to the tetraspanin (TM4SF) family. NA PE1 12 +NX_Q13002 Glutamate receptor ionotropic, kainate 2 908 102583 8.05 3 Cell membrane;Postsynaptic cell membrane Mental retardation, autosomal recessive 6 Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist (PubMed:28180184). May be involved in the transmission of light information from the retina to the hypothalamus. Modulates cell surface expression of NETO2 (By similarity). Ubiquitinated. Ubiquitination regulates the GRIK2 levels at the synapse by leading kainate receptor degradation through proteasome (By similarity).;Phosphorylated by PKC at Ser-868 upon agonist activation, this directly enhance sumoylation.;Sumoylation mediates kainate receptor-mediated endocytosis and regulates synaptic transmission. Sumoylation is enhanced by PIAS3 and desumoylated by SENP1 (By similarity). Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK2 subfamily. Neuroactive ligand-receptor interaction;Glutamatergic synapse;Activation of Ca-permeable Kainate Receptor;Activation of Na-permeable kainate receptors PE1 6 +NX_Q13003 Glutamate receptor ionotropic, kainate 3 919 104037 7.28 3 Cell membrane;Postsynaptic cell membrane NA Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds domoate > kainate >> L-glutamate = quisqualate >> AMPA = NMDA. NA Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK3 subfamily. Neuroactive ligand-receptor interaction;Glutamatergic synapse;Presynaptic function of Kainate receptors;Activation of Ca-permeable Kainate Receptor PE1 1 +NX_Q13007 Interleukin-24 206 23825 8.95 0 Secreted NA Has antiproliferative properties on melanoma cells and may contribute to terminal cell differentiation. Ubiquitination at Lys-122 promotes proteasomal degradation. Belongs to the IL-10 family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-20 family signaling PE1 1 +NX_Q13009 T-lymphoma invasion and metastasis-inducing protein 1 1591 177508 6.17 0 Cell membrane;Cell junction;Nucleus membrane;Nucleoplasm;Cytosol;Cytoskeleton NA Modulates the activity of RHO-like proteins and connects extracellular signals to cytoskeletal activities. Acts as a GDP-dissociation stimulator protein that stimulates the GDP-GTP exchange activity of RHO-like GTPases and activates them. Activates RAC1, CDC42, and to a lesser extent RHOA. Required for normal cell adhesion and cell migration. NA Belongs to the TIAM family. Chemokine signaling pathway;Regulation of actin cytoskeleton;EPHB-mediated forward signaling;EPH-ephrin mediated repulsion of cells;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events;Activated NTRK2 signals through CDK5 PE1 21 +NX_Q13011 Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial 328 35816 8.16 0 Peroxisome;Mitochondrion NA Isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA. NA Belongs to the enoyl-CoA hydratase/isomerase family. Lipid metabolism; fatty acid beta-oxidation.;Peroxisome;Peroxisomal protein import PE1 19 +NX_Q13015 Protein AF1q 90 10061 4.39 0 Cytoplasm;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Cofactor for the transcription factor TCF7 (PubMed:26079538). Involved in regulation of lymphoid development by driving multipotent hematopoietic progenitor cells towards a T cell fate (PubMed:21715312). Ubiquitinated, leading to degradation. Belongs to the MLLT11 family. NA PE1 1 +NX_Q13017 Rho GTPase-activating protein 5 1502 172460 6.18 0 Endoplasmic reticulum;Cytosol;Cytoplasm;Cell membrane NA GTPase-activating protein for Rho family members (PubMed:8537347). NA NA Focal adhesion;Leukocyte transendothelial migration;Rho GTPase cycle PE1 14 +NX_Q13018 Secretory phospholipase A2 receptor 1463 168600 5.73 1 Cytosol;Secreted;Cell membrane NA Receptor for secretory phospholipase A2 (sPLA2). Acts as a receptor for phospholipase sPLA2-IB/PLA2G1B but not sPLA2-IIA/PLA2G2A. Also able to bind to snake PA2-like toxins. Although its precise function remains unclear, binding of sPLA2 to its receptor participates in both positive and negative regulation of sPLA2 functions as well as clearance of sPLA2. Binding of sPLA2-IB/PLA2G1B induces various effects depending on the cell type, such as activation of the mitogen-activated protein kinase (MAPK) cascade to induce cell proliferation, the production of lipid mediators, selective release of arachidonic acid in bone marrow-derived mast cells. In neutrophils, binding of sPLA2-IB/PLA2G1B can activate p38 MAPK to stimulate elastase release and cell adhesion. May be involved in responses in proinflammatory cytokine productions during endotoxic shock. Also has endocytic properties and rapidly internalizes sPLA2 ligands, which is particularly important for the clearance of extracellular sPLA2s to protect their potent enzymatic activities. The soluble secretory phospholipase A2 receptor form is circulating and acts as a negative regulator of sPLA2 functions by blocking the biological functions of sPLA2-IB/PLA2G1B. The secretory phospholipase A2 receptor form may be produced by the action of metalloproteinases. It contains all extracellular domains and only lacks transmembrane and cytosolic regions. It is however unclear whether this form is produced by proteolytic cleavage as suggested by some experiments, or by alternative splicing, as in the case of isoform 2 that shares all characteristics of secretory phospholipase A2 receptor form (By similarity). NA Phagosome;Tuberculosis;Synthesis of PA;Acyl chain remodelling of PG;Acyl chain remodelling of PC;Acyl chain remodelling of PS;Acyl chain remodelling of PE;Acyl chain remodelling of PI PE1 2 +NX_Q13021 MAL-like protein 153 17350 6.15 4 Membrane NA NA NA Belongs to the MAL family. NA PE1 2 +NX_Q13023 A-kinase anchor protein 6 2319 256720 4.9 0 Sarcoplasmic reticulum;Nucleus membrane NA Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the nuclear membrane or sarcoplasmic reticulum. May act as an adapter for assembling multiprotein complexes. NA NA NA PE1 14 +NX_Q13029 PR domain zinc finger protein 2 1718 188915 7.02 0 Golgi apparatus;Nucleoplasm;Nucleus NA S-adenosyl-L-methionine-dependent histone methyltransferase that specifically methylates 'Lys-9' of histone H3. May function as a DNA-binding transcription factor. Binds to the macrophage-specific TPA-responsive element (MTE) of the HMOX1 (heme oxygenase 1) gene and may act as a transcriptional activator of this gene. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. NA PE1 1 +NX_Q13033 Striatin-3 797 87209 5.17 0 Cytoplasm;Membrane;Nucleoplasm;Cytosol;Cytoskeleton NA Binds calmodulin in a calcium dependent manner. May function as scaffolding or signaling protein. NA Belongs to the WD repeat striatin family. NA PE1 14 +NX_Q13042 Cell division cycle protein 16 homolog 620 71656 5.55 0 Cytoplasm;Spindle;Centrosome NA Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Phosphorylated. Phosphorylation on Ser-560 occurs specifically during mitosis. Belongs to the APC6/CDC16 family. Protein modification; protein ubiquitination.;Cell cycle;Oocyte meiosis;Ubiquitin mediated proteolysis;Progesterone-mediated oocyte maturation;HTLV-I infection;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;CDK-mediated phosphorylation and removal of Cdc6;Antigen processing: Ubiquitination & Proteasome degradation;Senescence-Associated Secretory Phenotype (SASP);Autodegradation of Cdh1 by Cdh1:APC/C;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of Cyclin B;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;APC/C:Cdc20 mediated degradation of mitotic proteins;Phosphorylation of the APC/C;APC-Cdc20 mediated degradation of Nek2A PE1 13 +NX_Q13043 Serine/threonine-protein kinase 4 487 55630 4.97 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Stress-activated, pro-apoptotic kinase which, following caspase-cleavage, enters the nucleus and induces chromatin condensation followed by internucleosomal DNA fragmentation. Key component of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. STK3/MST2 and STK4/MST1 are required to repress proliferation of mature hepatocytes, to prevent activation of facultative adult liver stem cells (oval cells), and to inhibit tumor formation (By similarity). Phosphorylates 'Ser-14' of histone H2B (H2BS14ph) during apoptosis. Phosphorylates FOXO3 upon oxidative stress, which results in its nuclear translocation and cell death initiation. Phosphorylates MOBKL1A, MOBKL1B and RASSF2. Phosphorylates TNNI3 (cardiac Tn-I) and alters its binding affinity to TNNC1 (cardiac Tn-C) and TNNT2 (cardiac Tn-T). Phosphorylates FOXO1 on 'Ser-212' and regulates its activation and stimulates transcription of PMAIP1 in a FOXO1-dependent manner. Phosphorylates SIRT1 and inhibits SIRT1-mediated p53/TP53 deacetylation, thereby promoting p53/TP53 dependent transcription and apoptosis upon DNA damage. Acts as an inhibitor of PKB/AKT1. Phosphorylates AR on 'Ser-650' and suppresses its activity by intersecting with PKB/AKT1 signaling and antagonizing formation of AR-chromatin complexes. Proteolytically cleaved by caspase-3 during apoptosis at Asp-326 and Asp-349 resulting in a 37 kDa or a 39 kDa subunit respectively. The 39 kDa subunit is further cleaved into the 37 kDa form. Proteolytic cleavage results in kinase activation and nuclear translocation of the truncated form (MST1/N). It is less likely that cleavage at Asp-349 is a prerequisite for activation as this site is not conserved in the murine ortholog.;Autophosphorylated on serine and threonine residues. Phosphorylation at Thr-387 by PKB/AKT1, leads to inhibition of its: kinase activity, nuclear translocation and autophosphorylation at Thr-183. It also diminishes its cleavage by caspases and its ability to phosphorylate FOXO3. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. MAPK signaling pathway;Pathways in cancer;Non-small cell lung cancer;Signaling by Hippo PE1 20 +NX_Q13045 Protein flightless-1 homolog 1269 144751 5.75 0 Centriolar satellite;Focal adhesion;Nucleoplasm;Centrosome;Cytosol;Nucleus;Cytoskeleton NA May play a role as coactivator in transcriptional activation by hormone-activated nuclear receptors (NR) and acts in cooperation with NCOA2 and CARM1. Involved in estrogen hormone signaling. Involved in early embryonic development (By similarity). May play a role in regulation of cytoskeletal rearrangements involved in cytokinesis and cell migration, by inhibiting Rac1-dependent paxillin phosphorylation. NA NA NA PE1 17 +NX_Q13046 Putative pregnancy-specific beta-1-glycoprotein 7 419 47027 8.65 0 Secreted NA NA NA Belongs to the immunoglobulin superfamily. CEA family. Cell surface interactions at the vascular wall PE5 19 +NX_Q13049 E3 ubiquitin-protein ligase TRIM32 653 71989 6.59 0 Cytoplasm;Cytoskeleton Muscular dystrophy, limb-girdle, autosomal recessive 8;Bardet-Biedl syndrome 11 Has an E3 ubiquitin ligase activity. Ubiquitinates DTNBP1 (dysbindin) and promotes its degradation. May ubiquitinate BBS2. May play a significant role in mediating the biological activity of the HIV-1 Tat protein in vivo. Binds specifically to the activation domain of HIV-1 Tat and can also interact with the HIV-2 and EIAV Tat proteins in vivo. Ubiquitinated. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Regulation of innate immune responses to cytosolic DNA PE1 9 +NX_Q13057 Bifunctional coenzyme A synthase 564 62329 6.51 0 Cytoplasm;Mitochondrion matrix Pontocerebellar hypoplasia 12;Neurodegeneration with brain iron accumulation 6 Bifunctional enzyme that catalyzes the fourth and fifth sequential steps of CoA biosynthetic pathway. The fourth reaction is catalyzed by the phosphopantetheine adenylyltransferase, coded by the coaD domain; the fifth reaction is catalyzed by the dephospho-CoA kinase, coded by the coaE domain. May act as a point of CoA biosynthesis regulation. NA In the central section; belongs to the eukaryotic CoaD family. Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 4/5.;Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 5/5.;Pantothenate and CoA biosynthesis;Metabolic pathways;Coenzyme A biosynthesis PE1 17 +NX_Q13061 Triadin 729 81595 9.42 1 Cytosol;Sarcoplasmic reticulum membrane;Cell membrane Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness Contributes to the regulation of lumenal Ca2+ release via the sarcoplasmic reticulum calcium release channels RYR1 and RYR2, a key step in triggering skeletal and heart muscle contraction. Required for normal organization of the triad junction, where T-tubules and the sarcoplasmic reticulum terminal cisternae are in close contact (By similarity). Required for normal skeletal muscle strength. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats. Phosphorylated by CaMK2.;N-glycosylated. NA Stimuli-sensing channels;Ion homeostasis PE1 6 +NX_Q13064 Probable E3 ubiquitin-protein ligase makorin-3 507 55645 5.52 0 Nucleoplasm;Cytosol;Cell membrane Precocious puberty, central 2 E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. NA NA Protein modification; protein ubiquitination. PE1 15 +NX_Q13065 G antigen 1 117 12885 4.12 0 NA NA Antigen, recognized on melanoma by autologous cytolytic T-lymphocytes. Completely silent in normal adult tissues, except testis. NA Belongs to the GAGE family. NA PE1 X +NX_Q13066 G antigen 2B/2C 116 12786 4.34 0 NA NA Antigen, recognized on melanoma by autologous cytolytic T-lymphocytes. NA Belongs to the GAGE family. NA PE1 X +NX_Q13069 G antigen 5 117 12924 4.19 0 NA NA NA NA Belongs to the GAGE family. NA PE1 X +NX_Q13070 G antigen 6 117 12892 4.19 0 NA NA NA NA Belongs to the GAGE family. NA PE1 X +NX_Q13072 B melanoma antigen 1 43 4810 5 0 Secreted NA Unknown. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes. NA Belongs to the BAGE family. NA PE2 13 +NX_Q13075 Baculoviral IAP repeat-containing protein 1 1403 159582 5.68 0 NA NA Acts as a sensor component of the NLRC4 inflammasome that specifically recognizes and binds needle protein CprI from pathogenic bacteria C.violaceum. Association of pathogenic bacteria proteins drives in turn drive assembly and activation of the NLRC4 inflammasome, promoting caspase-1 activation, cytokine production and macrophage pyroptosis. The NLRC4 inflammasome is activated as part of the innate immune response to a range of intracellular bacteria such as C.violaceum and L.pneumophila.;Anti-apoptotic protein which acts by inhibiting the activities of CASP3, CASP7 and CASP9. Can inhibit the autocleavage of pro-CASP9 and cleavage of pro-CASP3 by CASP9. Capable of inhibiting CASP9 autoproteolysis at 'Asp-315' and decreasing the rate of auto proteolysis at 'Asp-330'. Acts as a mediator of neuronal survival in pathological conditions. Prevents motor-neuron apoptosis induced by a variety of signals. Possible role in the prevention of spinal muscular atrophy that seems to be caused by inappropriate persistence of motor-neuron apoptosis: mutated or deleted forms of NAIP have been found in individuals with severe spinal muscular atrophy. NA NA NOD-like receptor signaling pathway;Legionellosis;NOD-like receptor signaling pathway;Legionellosis PE1 5 +NX_Q13077 TNF receptor-associated factor 1 416 46164 5.77 0 Nucleoplasm;Cytoplasm NA Adapter molecule that regulates the activation of NF-kappa-B and JNK. Plays a role in the regulation of cell survival and apoptosis. The heterotrimer formed by TRAF1 and TRAF2 is part of a E3 ubiquitin-protein ligase complex that promotes ubiquitination of target proteins, such as MAP3K14. The TRAF1/TRAF2 complex recruits the antiapoptotic E3 protein-ubiquitin ligases BIRC2 and BIRC3 to TNFRSF1B/TNFR2. Polyubiquitinated by BIRC2 and/or BIRC3, leading to its subsequent proteasomal degradation. NA Herpes simplex infection;Pathways in cancer;Small cell lung cancer;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway PE1 9 +NX_Q13084 39S ribosomal protein L28, mitochondrial 256 30157 8.34 0 Mitochondrion NA NA NA Belongs to the bacterial ribosomal protein bL28 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 16 +NX_Q13085 Acetyl-CoA carboxylase 1 2346 265554 5.95 0 Cytoplasm;Cytosol;Nucleolus;Cytoskeleton Acetyl-CoA carboxylase 1 deficiency Catalyzes the ATP-dependent carboxylation of acetyl-CoA to malonyl-CoA, a key metabolite in the fatty acid synthetic (PubMed:20952656, PubMed:20457939). Carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase (PubMed:20952656, PubMed:20457939). Phosphorylation on Ser-1263 is required for interaction with BRCA1. NA Lipid metabolism; malonyl-CoA biosynthesis; malonyl-CoA from acetyl-CoA: step 1/1.;Fatty acid biosynthesis;Pyruvate metabolism;Propanoate metabolism;Metabolic pathways;Insulin signaling pathway;ChREBP activates metabolic gene expression;Activation of gene expression by SREBF (SREBP);Import of palmitoyl-CoA into the mitochondrial matrix;Biotin transport and metabolism;Defective HLCS causes multiple carboxylase deficiency;Fatty acyl-CoA biosynthesis PE1 17 +NX_Q13087 Protein disulfide-isomerase A2 525 58206 4.89 0 Endoplasmic reticulum lumen NA Acts as an intracellular estrogen-binding protein. May be involved in modulating cellular levels and biological functions of estrogens in the pancreas. May act as a chaperone that inhibits aggregation of misfolded proteins. Glycosylated.;The disulfide-linked homodimer exhibits an enhanced chaperone activity. Belongs to the protein disulfide isomerase family. NA PE1 16 +NX_Q13093 Platelet-activating factor acetylhydrolase 441 50077 7.23 0 Extracellular space Asthma;Platelet-activating factor acetylhydrolase deficiency;Atopic hypersensitivity Modulates the action of platelet-activating factor (PAF) by hydrolyzing the sn-2 ester bond to yield the biologically inactive lyso-PAF. Has a specificity for substrates with a short residue at the sn-2 position. It is inactive against long-chain phospholipids. NA Belongs to the AB hydrolase superfamily. Lipase family. Ether lipid metabolism;Metabolic pathways;Synthesis, secretion, and deacylation of Ghrelin PE1 6 +NX_Q13094 Lymphocyte cytosolic protein 2 533 60188 5.89 0 Cytoplasm NA Involved in T-cell antigen receptor mediated signaling. Phosphorylated after T-cell receptor activation by ZAP70, ITK and TXK, which leads to the up-regulation of Th1 preferred cytokine IL-2. SYK-dependent phosphorylation is required for recruitment of PI3K signaling components.;LCP2 is phosphorylated by ZAP70 (Phosphotyrosine:PTM-0255) NA Osteoclast differentiation;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;Fc epsilon RI signaling pathway;Generation of second messenger molecules;GPVI-mediated activation cascade;DAP12 signaling;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization PE1 5 +NX_Q13098 COP9 signalosome complex subunit 1 491 55537 6.3 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Essential component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Suppresses G-protein- and mitogen-activated protein kinase-mediated signal transduction. NA Belongs to the CSN1 family. Formation of TC-NER Pre-Incision Complex;DNA Damage Recognition in GG-NER;Cargo recognition for clathrin-mediated endocytosis;Neddylation PE1 17 +NX_Q13099 Intraflagellar transport protein 88 homolog 833 94270 6.2 0 Cytoplasm;Centriole;Cilium;Cilium basal body;Centrosome;Flagellum NA Involved in primary cilium biogenesis. Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment. NA NA Intraflagellar transport;Hedgehog 'off' state PE1 13 +NX_Q13103 Secreted phosphoprotein 24 211 24338 8.59 0 Secreted NA Could coordinate an aspect of bone turnover. Phosphorylation sites are present in the extracellular medium. Belongs to the SPP2 family. Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 2 +NX_Q13105 Zinc finger and BTB domain-containing protein 17 803 87928 6 0 Nucleus NA Transcription factor that can function as an activator or repressor depending on its binding partners, and by targeting negative regulators of cell cycle progression. Plays a critical role in early lymphocyte development, where it is essential to prevent apoptosis in lymphoid precursors, allowing them to survive in response to IL7 and undergo proper lineage commitment. Has been shown to bind to the promoters of adenovirus major late protein and cyclin D1 and activate transcription. Required for early embryonic development during gastrulation. Represses RB1 transcription; this repression can be blocked by interaction with ZBTB49 isoform 3/ZNF509S1 (PubMed:25245946). Undergoes 'Lys-48'-linked polyubiquitination at Lys-397 and Lys-481 and subsequent proteasomal degradation in a TRAF2-dependent manner. Belongs to the krueppel C2H2-type zinc-finger protein family. XBP1(S) activates chaperone genes PE1 1 +NX_Q13106 Zinc finger protein 154 437 49865 9.11 0 Nucleoplasm;Nucleus;Nucleolus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 19 +NX_Q13107 Ubiquitin carboxyl-terminal hydrolase 4 963 108565 5.47 0 Cytoplasm;Cytosol;Nucleus;Cell membrane NA Deubiquitinating enzyme that removes conjugated ubiquitin from target proteins (PubMed:16316627, PubMed:16472766, PubMed:16339847, PubMed:20595234, PubMed:22347420, PubMed:25404403). Deubiquitinates PDPK1 (PubMed:22347420). Deubiquitinates TRIM21 (PubMed:16316627). Deubiquitinates receptor ADORA2A which increases the amount of functional receptor at the cell surface (PubMed:16339847). May regulate mRNA splicing through deubiquitination of the U4 spliceosomal protein PRPF3 (PubMed:20595234). This may prevent its recognition by the U5 component PRPF8 thereby destabilizing interactions within the U4/U6.U5 snRNP (PubMed:20595234). May also play a role in the regulation of quality control in the ER (PubMed:16339847). Monoubiquitinated by TRIM21. Ubiquitination does not lead to its proteasomal degradation. Autodeubiquitinated. Belongs to the peptidase C19 family. USP4 subfamily. TNFR1-induced proapoptotic signaling;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;Ub-specific processing proteases PE1 3 +NX_Q13111 Chromatin assembly factor 1 subunit A 956 106910 5.69 0 Nucleoplasm;Cytosol;Nucleus NA Core component of the CAF-1 complex, a complex thought to mediate chromatin assembly in DNA replication and DNA repair. Assembles histone octamers onto replicating DNA in vitro. CAF-1 performs the first step of the nucleosome assembly process, bringing newly synthesized histones H3 and H4 to replicating DNA; histones H2A/H2B can bind to this chromatin precursor subsequent to DNA replication to complete the histone octamer. CHAF1A binds to histones H3 and H4. It may play a role in heterochromatin maintenance in proliferating cells by bringing newly synthesized cbx proteins to heterochromatic DNA replication foci (By similarity). NA Belongs to the CHAF1A family. NA PE1 19 +NX_Q13112 Chromatin assembly factor 1 subunit B 559 61493 7.18 0 Cytoplasm;Nucleoplasm;Nucleus NA Complex that is thought to mediate chromatin assembly in DNA replication and DNA repair. Assembles histone octamers onto replicating DNA in vitro. CAF-1 performs the first step of the nucleosome assembly process, bringing newly synthesized histones H3 and H4 to replicating DNA; histones H2A/H2B can bind to this chromatin precursor subsequent to DNA replication to complete the histone octamer. Differentially phosphorylated during cell cycle. During mitosis the p60 subunit of inactive CAF-1 is hyperphosphorylated and displaced into the cytosol. Progressivly dephosphorylated from G1 to S and G2 phase. Phosphorylated p60 is recruited to chromatin undergoing DNA repair after UV irradiation in G1, S or G2 phases. Belongs to the WD repeat HIR1 family. NA PE1 21 +NX_Q13113 PDZK1-interacting protein 1 114 12227 4.79 1 Membrane;Cytosol;Nucleus speckle NA May play an important role in tumor biology. NA NA NA PE1 1 +NX_Q13114 TNF receptor-associated factor 3 568 64490 8.23 0 Cytoplasm;Endosome;Mitochondrion Encephalopathy, acute, infection-induced, Herpes-specific, 5 Regulates pathways leading to the activation of NF-kappa-B and MAP kinases, and plays a central role in the regulation of B-cell survival. Part of signaling pathways leading to the production of cytokines and interferon. Required for normal antibody isotype switching from IgM to IgG. Plays a role T-cell dependent immune responses. Plays a role in the regulation of antiviral responses. Is an essential constituent of several E3 ubiquitin-protein ligase complexes. May have E3 ubiquitin-protein ligase activity and promote 'Lys-63'-linked ubiquitination of target proteins. Inhibits activation of NF-kappa-B in response to LTBR stimulation. Inhibits TRAF2-mediated activation of NF-kappa-B. Down-regulates proteolytic processing of NFKB2, and thereby inhibits non-canonical activation of NF-kappa-B. Promotes ubiquitination and proteasomal degradation of MAP3K14. Undergoes 'Lys-48'-linked polyubiquitination, leading to its proteasomal degradation in response to signaling by TNFSF13B, TLR4 or through CD40. 'Lys-48'-linked polyubiquitinated form is deubiquitinated by OTUD7B, preventing TRAF3 proteolysis and over-activation of non-canonical NF-kappa-B. Undergoes 'Lys-63'-linked ubiquitination during early stages of virus infection, and 'Lys-48'-linked ubiquitination during later stages. Undergoes both 'Lys-48'-linked and 'Lys-63'-linked ubiquitination in response to TLR3 and TLR4 signaling. Deubiquitinated by OTUB1, OTUB2 and OTUD5. Belongs to the TNF receptor-associated factor family. A subfamily. Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Hepatitis C;Herpes simplex infection;Pathways in cancer;Small cell lung cancer;TNFR2 non-canonical NF-kB pathway;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway;Negative regulators of DDX58/IFIH1 signaling;TRAF3-dependent IRF activation pathway;Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;TRAF3 deficiency - HSE;Ovarian tumor domain proteases;TICAM1-dependent activation of IRF3/IRF7 PE1 14 +NX_Q13115 Dual specificity protein phosphatase 4 394 42953 7.1 0 Nucleoplasm;Nucleus NA Regulates mitogenic signal transduction by dephosphorylating both Thr and Tyr residues on MAP kinases ERK1 and ERK2. Phosphorylation in the C-terminus by ERK1/2 inhibits proteasomal degradation and stabilizes the protein. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. MAPK signaling pathway;RAF-independent MAPK1/3 activation;Negative regulation of MAPK pathway;ERKs are inactivated PE1 8 +NX_Q13117 Deleted in azoospermia protein 2 558 63111 8.84 0 Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation. NA Belongs to the RRM DAZ family. NA PE1 Y +NX_Q13118 Krueppel-like factor 10 480 52555 9.29 0 Nucleus NA Transcriptional repressor which binds to the consensus sequence 5'-GGTGTG-3'. Plays a role in the regulation of the circadian clock; binds to the GC box sequence in the promoter of the core clock component ARTNL/BMAL1 and represses its transcriptional activity. Regulates the circadian expression of genes involved in lipogenesis, gluconeogenesis, and glycolysis in the liver. Represses the expression of PCK2, a rate-limiting step enzyme of gluconeogenesis (By similarity). May play a role in the cell cycle regulation. Ubiquitinated; mediated by SIAH1 and leading to its subsequent proteasomal degradation. Belongs to the Sp1 C2H2-type zinc-finger protein family. NA PE1 8 +NX_Q13123 Protein Red 557 65602 6.26 0 Nucleus speckle;Chromosome;Nucleoplasm;Spindle pole;Nucleus NA Involved in pre-mRNA splicing as a component of the spliceosome (PubMed:28781166). Auxiliary spliceosomal protein that regulates selection of alternative splice sites in a small set of target pre-mRNA species (Probable). Required for normal mitotic cell cycle progression (PubMed:22351768, PubMed:24252166). Recruits MAD1L1 and MAD2L1 to kinetochores, and is required to trigger the spindle assembly checkpoint (PubMed:22351768). Required for normal accumulation of SMU1 (PubMed:24945353).;(Microbial infection) Required, together with SMU1, for normal splicing of influenza A virus NS1 pre-mRNA, which is required for the production of the exportin NS2 and for the production of influenza A virus particles. Not required for the production of VSV virus particles. NA Belongs to the RED family. NA PE1 5 +NX_Q13126 S-methyl-5'-thioadenosine phosphorylase 283 31236 6.75 0 Cytoplasm;Cytosol;Nucleus Diaphyseal medullary stenosis with malignant fibrous histiocytoma Catalyzes the reversible phosphorylation of S-methyl-5'-thioadenosine (MTA) to adenine and 5-methylthioribose-1-phosphate. Involved in the breakdown of MTA, a major by-product of polyamine biosynthesis. Responsible for the first step in the methionine salvage pathway after MTA has been generated from S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates. NA Belongs to the PNP/MTAP phosphorylase family. MTAP subfamily. Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; S-methyl-5-thio-alpha-D-ribose 1-phosphate from S-methyl-5'-thioadenosine (phosphorylase route): step 1/1.;Cysteine and methionine metabolism;Metabolic pathways;Methionine salvage pathway;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 9 +NX_Q13127 RE1-silencing transcription factor 1097 121872 6.3 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol Fibromatosis, gingival, 5;Wilms tumor 6 Transcriptional repressor which binds neuron-restrictive silencer element (NRSE) and represses neuronal gene transcription in non-neuronal cells (PubMed:12399542, PubMed:26551668, PubMed:7697725, PubMed:7871435, PubMed:8568247, PubMed:11741002, PubMed:11779185). Restricts the expression of neuronal genes by associating with two distinct corepressors, SIN3A and RCOR1, which in turn recruit histone deacetylase to the promoters of REST-regulated genes (PubMed:10449787, PubMed:10734093). Mediates repression by recruiting the BHC complex at RE1/NRSE sites which acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier (By similarity). Transcriptional repression by REST-CDYL via the recruitment of histone methyltransferase EHMT2 may be important in transformation suppression (PubMed:19061646). Represses the expression of SRRM4 in non-neural cells to prevent the activation of neural-specific splicing events and to prevent production of REST isoform 3 (By similarity). Repressor activity may be inhibited by forming heterodimers with isoform 3, thereby preventing binding to NRSE or binding to corepressors and leading to derepression of target genes (PubMed:11779185). Also maintains repression of neuronal genes in neural stem cells, and allows transcription and differentiation into neurons by dissociation from RE1/NRSE sites of target genes (By similarity). Thereby is involved in maintaining the quiescent state of adult neural stem cells and preventing premature differentiation into mature neurons (PubMed:21258371). Plays a role in the developmental switch in synaptic NMDA receptor composition during postnatal development, by repressing GRIN2B expression and thereby altering NMDA receptor properties from containing primarily GRIN2B to primarily GRIN2A subunits (By similarity). Acts as a regulator of osteoblast differentiation (By similarity). Key repressor of gene expression in hypoxia; represses genes in hypoxia by direct binding to an RE1/NRSE site on their promoter regions (PubMed:27531581). May also function in stress resistance in the brain during aging; possibly by regulating expression of genes involved in cell death and in the stress response (PubMed:24670762). Repressor of gene expression in the hippocampus after ischemia by directly binding to RE1/NRSE sites and recruiting SIN3A and RCOR1 to promoters of target genes, thereby promoting changes in chromatin modifications and ischemia-induced cell death (By similarity). After ischemia, might play a role in repression of miR-132 expression in hippocampal neurons, thereby leading to neuronal cell death (By similarity). Negatively regulates the expression of SRRM3 in breast cancer cell lines (PubMed:26053433).;Binds to the 3' region of the neuron-restrictive silencer element (NRSE), with lower affinity than full-length REST isoform 1 (By similarity). Exhibits weaker repressor activity compared to isoform 1 (PubMed:11779185). May negatively regulate the repressor activity of isoform 1 by binding to isoform 1, thereby preventing its binding to NRSE and leading to derepression of target genes (PubMed:11779185). However, in another study, does not appear to be implicated in repressor activity of a NRSE motif-containing reporter construct nor in inhibitory activity on the isoform 1 transcriptional repressor activity (PubMed:11741002). Post-transcriptional inactivation of REST by SRRM4-dependent alternative splicing into isoform 3 is required in mechanosensory hair cells in the inner ear for derepression of neuronal genes and hearing (By similarity). Ubiquitinated; ubiquitination is mediated by BTRC and leads to proteasomal degradation in G2 phase (PubMed:18354482, PubMed:21258371). Ubiquitination increases during neuronal differentiation (PubMed:21258371). Deubiquitinated by USP7; leading to its stabilization and promoting the maintenance of neural progenitor cells (PubMed:21258371).;Phosphorylated; phosphorylation is required for ubiquitination.;O-glycosylated. NA HDACs deacetylate histones;Regulation of PTEN gene transcription PE1 4 +NX_Q13129 Zinc finger protein Rlf 1914 217953 6.32 0 Nucleoplasm;Nucleus;Nucleolus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 1 +NX_Q13131 5'-AMP-activated protein kinase catalytic subunit alpha-1 559 64009 8.32 0 Cytoplasm;Nucleus speckle;Nucleus NA Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Regulates lipid synthesis by phosphorylating and inactivating lipid metabolic enzymes such as ACACA, ACACB, GYS1, HMGCR and LIPE; regulates fatty acid and cholesterol synthesis by phosphorylating acetyl-CoA carboxylase (ACACA and ACACB) and hormone-sensitive lipase (LIPE) enzymes, respectively. Regulates insulin-signaling and glycolysis by phosphorylating IRS1, PFKFB2 and PFKFB3. AMPK stimulates glucose uptake in muscle by increasing the translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane, possibly by mediating phosphorylation of TBC1D4/AS160. Regulates transcription and chromatin structure by phosphorylating transcription regulators involved in energy metabolism such as CRTC2/TORC2, FOXO3, histone H2B, HDAC5, MEF2C, MLXIPL/ChREBP, EP300, HNF4A, p53/TP53, SREBF1, SREBF2 and PPARGC1A. Acts as a key regulator of glucose homeostasis in liver by phosphorylating CRTC2/TORC2, leading to CRTC2/TORC2 sequestration in the cytoplasm. In response to stress, phosphorylates 'Ser-36' of histone H2B (H2BS36ph), leading to promote transcription. Acts as a key regulator of cell growth and proliferation by phosphorylating TSC2, RPTOR and ATG1/ULK1: in response to nutrient limitation, negatively regulates the mTORC1 complex by phosphorylating RPTOR component of the mTORC1 complex and by phosphorylating and activating TSC2. In response to nutrient limitation, promotes autophagy by phosphorylating and activating ATG1/ULK1. In that process also activates WDR45 (PubMed:28561066). In response to nutrient limitation, phosphorylates transcription factor FOXO3 promoting FOXO3 mitochondrial import (By similarity). AMPK also acts as a regulator of circadian rhythm by mediating phosphorylation of CRY1, leading to destabilize it. May regulate the Wnt signaling pathway by phosphorylating CTNNB1, leading to stabilize it. Also has tau-protein kinase activity: in response to amyloid beta A4 protein (APP) exposure, activated by CAMKK2, leading to phosphorylation of MAPT/TAU; however the relevance of such data remains unclear in vivo. Also phosphorylates CFTR, EEF2K, KLC1, NOS3 and SLC12A1. Ubiquitinated.;Phosphorylated at Thr-183 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Also phosphorylated at Thr-183 by CAMKK2; triggered by a rise in intracellular calcium ions, without detectable changes in the AMP/ATP ratio. CAMKK1 can also phosphorylate Thr-183, but at a much lower level. Dephosphorylated by protein phosphatase 2A and 2C (PP2A and PP2C). Phosphorylated by ULK1 and ULK2; leading to negatively regulate AMPK activity and suggesting the existence of a regulatory feedback loop between ULK1, ULK2 and AMPK. Dephosphorylated by PPM1A and PPM1B.;PRKAA1 is phosphorylated by ULK2 Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily. Regulation of autophagy;mTOR signaling pathway;Insulin signaling pathway;Adipocytokine signaling pathway;Hypertrophic cardiomyopathy (HCM);Macroautophagy;TP53 Regulates Metabolic Genes;Energy dependent regulation of mTOR by LKB1-AMPK;Regulation of TP53 Activity through Phosphorylation;Activation of AMPK downstream of NMDARs PE1 5 +NX_Q13133 Oxysterols receptor LXR-alpha 447 50396 7.61 0 Cytoplasm;Nucleus NA Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity (PubMed:19481530, PubMed:25661920). Interaction with retinoic acid receptor (RXR) shifts RXR from its role as a silent DNA-binding partner to an active ligand-binding subunit in mediating retinoid responses through target genes defined by LXRES (By similarity). LXRES are DR4-type response elements characterized by direct repeats of two similar hexanuclotide half-sites spaced by four nucleotides (By similarity). Plays an important role in the regulation of cholesterol homeostasis, regulating cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8 (PubMed:19481530). Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity). Ubiquitinated leading to its degradation by the proteasome. Belongs to the nuclear hormone receptor family. NR1 subfamily. PPAR signaling pathway;Hepatitis C;PPARA activates gene expression;Nuclear Receptor transcription pathway;VLDLR internalisation and degradation;SUMOylation of intracellular receptors PE1 11 +NX_Q13136 Liprin-alpha-1 1202 135779 5.91 0 Cytoplasm;Cytosol;Focal adhesion NA May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates. NA Belongs to the liprin family. Liprin-alpha subfamily. Acetylcholine Neurotransmitter Release Cycle;Glutamate Neurotransmitter Release Cycle;Norepinephrine Neurotransmitter Release Cycle;Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle;Receptor-type tyrosine-protein phosphatases PE1 11 +NX_Q13137 Calcium-binding and coiled-coil domain-containing protein 2 446 52254 4.94 0 Autophagosome membrane;Cytoplasm;Cytoplasmic vesicle;Cytosol;Perinuclear region;Nucleus;Cytoskeleton NA Xenophagy-specific receptor required for autophagy-mediated intracellular bacteria degradation. Acts as an effector protein of galectin-sensed membrane damage that restricts the proliferation of infecting pathogens such as Salmonella typhimurium upon entry into the cytosol by targeting LGALS8-associated bacteria for autophagy (PubMed:22246324). Initially orchestrates bacteria targeting to autophagosomes and subsequently ensures pathogen degradation by regulating pathogen-containing autophagosome maturation (PubMed:23022382, PubMed:25771791). Bacteria targeting to autophagosomes relies on its interaction with MAP1LC3A, MAP1LC3B and/or GABARAPL2, whereas regulation of pathogen-containing autophagosome maturation requires the interaction with MAP3LC3C (PubMed:23022382, PubMed:25771791). May play a role in ruffle formation and actin cytoskeleton organization and seems to negatively regulate constitutive secretion (PubMed:17635994). NA Belongs to the CALCOCO family. NA PE1 17 +NX_Q13144 Translation initiation factor eIF-2B subunit epsilon 721 80380 4.98 0 Cytosol Leukodystrophy with vanishing white matter Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. Polyubiquitinated, probably by NEDD4.;Phosphorylated at Ser-544 by DYRK2; this is required for subsequent phosphorylation by GSK3B (By similarity). Phosphorylated on serine and threonine residues by GSK3B; phosphorylation inhibits its function.;EIF2B5 is phosphorylated by DYRK1A (Phosphoserine:PTM-0253) Belongs to the eIF-2B gamma/epsilon subunits family. RNA transport;Recycling of eIF2:GDP PE1 3 +NX_Q13145 BMP and activin membrane-bound inhibitor homolog 260 29108 7.91 1 Membrane;Cytoplasmic vesicle;Nucleolus;Lipid droplet NA Negatively regulates TGF-beta signaling. NA Belongs to the BAMBI family. Downregulation of TGF-beta receptor signaling PE1 10 +NX_Q13148 TAR DNA-binding protein 43 414 44740 5.85 0 Nucleoplasm;Stress granule;Cytoplasm;Nucleus Amyotrophic lateral sclerosis 10 RNA-binding protein that is involved in various steps of RNA biogenesis and processing (PubMed:23519609). Preferentially binds, via its two RNA recognition motifs RRM1 and RRM2, to GU-repeats on RNA molecules predominantly localized within long introns and in the 3'UTR of mRNAs (PubMed:23519609, PubMed:24240615, PubMed:24464995). In turn, regulates the splicing of many non-coding and protein-coding RNAs including proteins involved in neuronal survival, as well as mRNAs that encode proteins relevant for neurodegenerative diseases (PubMed:21358640, PubMed:29438978). Plays a role in maintaining mitochondrial homeostasis by regulating the processing of mitochondrial transcripts (PubMed:28794432). Regulates also mRNA stability by recruiting CNOT7/CAF1 deadenylase on mRNA 3'UTR leading to poly(A) tail deadenylation and thus shortening (PubMed:30520513). In response to oxidative insult, associates with stalled ribosomes localized to stress granules (SGs) and contributes to cell survival (PubMed:23398327, PubMed:19765185). Participates also in the normal skeletal muscle formation and regeneration, forming cytoplasmic myo-granules and binding mRNAs that encode sarcomeric proteins (PubMed:30464263). Plays a role in the maintenance of the circadian clock periodicity via stabilization of the CRY1 and CRY2 proteins in a FBXL3-dependent manner (PubMed:27123980). Hyperphosphorylated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU. Phosphorylated upon cellular stress.;Ubiquitinated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.;Cleaved to generate C-terminal fragments in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU. NA NA PE1 1 +NX_Q13151 Heterogeneous nuclear ribonucleoprotein A0 305 30841 9.34 0 Nucleoplasm;Nucleus NA MRNA-binding component of ribonucleosomes. Specifically binds AU-rich element (ARE)-containing mRNAs. Involved in post-transcriptional regulation of cytokines mRNAs. Phosphorylated at Ser-84 by MAPKAPK2 in response to LPS treatment, promoting stabilization of GADD45A mRNA.;Arg-291 is dimethylated, probably to asymmetric dimethylarginine.;HNRNPA0 is phosphorylated by MKNK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA PE1 5 +NX_Q13153 Serine/threonine-protein kinase PAK 1 545 60647 5.55 0 Cytoplasm;Invadopodium;Cell membrane;Focal adhesion;Chromosome;Nucleoplasm;Ruffle membrane;Cytosol Intellectual developmental disorder with macrocephaly, seizures, and speech delay Protein kinase involved in intracellular signaling pathways downstream of integrins and receptor-type kinases that plays an important role in cytoskeleton dynamics, in cell adhesion, migration, proliferation, apoptosis, mitosis, and in vesicle-mediated transport processes (PubMed:30290153). Can directly phosphorylate BAD and protects cells against apoptosis. Activated by interaction with CDC42 and RAC1. Functions as GTPase effector that links the Rho-related GTPases CDC42 and RAC1 to the JNK MAP kinase pathway. Phosphorylates and activates MAP2K1, and thereby mediates activation of downstream MAP kinases. Involved in the reorganization of the actin cytoskeleton, actin stress fibers and of focal adhesion complexes. Phosphorylates the tubulin chaperone TBCB and thereby plays a role in the regulation of microtubule biogenesis and organization of the tubulin cytoskeleton. Plays a role in the regulation of insulin secretion in response to elevated glucose levels. Part of a ternary complex that contains PAK1, DVL1 and MUSK that is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ). Activity is inhibited in cells undergoing apoptosis, potentially due to binding of CDC2L1 and CDC2L2. Phosphorylates MYL9/MLC2. Phosphorylates RAF1 at 'Ser-338' and 'Ser-339' resulting in: activation of RAF1, stimulation of RAF1 translocation to mitochondria, phosphorylation of BAD by RAF1, and RAF1 binding to BCL2. Phosphorylates SNAI1 at 'Ser-246' promoting its transcriptional repressor activity by increasing its accumulation in the nucleus. In podocytes, promotes NR3C2 nuclear localization. Required for atypical chemokine receptor ACKR2-induced phosphorylation of LIMK1 and cofilin (CFL1) and for the up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. In synapses, seems to mediate the regulation of F-actin cluster formation performed by SHANK3, maybe through CFL1 phosphorylation and inactivation. Plays a role in RUFY3-mediated facilitating gastric cancer cells migration and invasion (PubMed:25766321). In response to DNA damage, phosphorylates MORC2 which activates its ATPase activity and facilitates chromatin remodeling (PubMed:23260667). Autophosphorylated in trans, meaning that in a dimer, one kinase molecule phosphorylates the other one. Activated by autophosphorylation at Thr-423 in response to a conformation change, triggered by interaction with GTP-bound CDC42 or RAC1. Activated by phosphorylation at Thr-423 by BRSK2 and by PDPK1. Phosphorylated by JAK2 in response to PRL; this increases PAK1 kinase activity. Phosphorylated at Ser-21 by PKB/AKT; this reduces interaction with NCK1 and association with focal adhesion sites. Upon DNA damage, phosphorylated at Thr-212 and translocates to the nucleoplasm (PubMed:23260667). Phosphorylated at tyrosine residues, which can be enhanced by NTN1 (By similarity).;PAK1 is phosphorylated by BMX (Phosphotyrosine:PTM-0255);PAK1 is phosphorylated by PDPK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. MAPK signaling pathway;ErbB signaling pathway;Chemokine signaling pathway;Axon guidance;Focal adhesion;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Epithelial cell signaling in Helicobacter pylori infection;Renal cell carcinoma;MAPK6/MAPK4 signaling;Regulation of actin dynamics for phagocytic cup formation;DSCAM interactions;Generation of second messenger molecules;EPHB-mediated forward signaling;Ephrin signaling;FCERI mediated MAPK activation;Signal transduction by L1;VEGFR2 mediated vascular permeability;CD28 dependent Vav1 pathway;Sema3A PAK dependent Axon repulsion;CD209 (DC-SIGN) signaling;Smooth Muscle Contraction;RHO GTPases activate PKNs;RHO GTPases activate PAKs;RHO GTPases Activate ROCKs;Activation of RAC1;G beta:gamma signalling through CDC42 PE1 11 +NX_Q13155 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 320 35349 8.45 0 Cytosol;Nucleus Leukodystrophy, hypomyelinating, 17 Required for assembly and stability of the aminoacyl-tRNA synthase complex (PubMed:19131329). Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down-regulation which is required for aveolar type II cell differentiation. Blocks MDM2-mediated ubiquitination and degradation of p53/TP53. Functions as a proapoptotic factor. Ubiquitinated by PRKN, leading to its degradation by the proteasome. Mutant PRKN fails to ubiquitinate AIMP2 efficiently, allowing its accumulation which may contribute to neurodegeneration associated with Parkinson disease.;Phosphorylated on serine residues in response to UV irradiation. NA Cytosolic tRNA aminoacylation;Selenoamino acid metabolism PE1 7 +NX_Q13156 Replication protein A 30 kDa subunit 261 28868 6.07 0 Nucleus NA As part of the alternative replication protein A complex, aRPA, binds single-stranded DNA and probably plays a role in DNA repair. Compared to the RPA2-containing, canonical RPA complex, may not support chromosomal DNA replication and cell cycle progression through S-phase. The aRPA may not promote efficient priming by DNA polymerase alpha but could support DNA polymerase delta synthesis in the presence of PCNA and replication factor C (RFC), the dual incision/excision reaction of nucleotide excision repair and RAD51-dependent strand exchange. NA Belongs to the replication factor A protein 2 family. DNA replication;Nucleotide excision repair;Mismatch repair;Homologous recombination;Fanconi anemia pathway;Activation of the pre-replicative complex PE1 X +NX_Q13158 FAS-associated death domain protein 208 23279 5.48 0 Nucleoplasm;Cytosol Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations Apoptotic adaptor molecule that recruits caspase-8 or caspase-10 to the activated Fas (CD95) or TNFR-1 receptors. The resulting aggregate called the death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation. Active caspase-8 initiates the subsequent cascade of caspases mediating apoptosis. Involved in interferon-mediated antiviral immune response, playing a role in the positive regulation of interferon signaling. NA NA Apoptosis;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Alzheimer's disease;Chagas disease (American trypanosomiasis);Tuberculosis;Herpes simplex infection;Pathways in cancer;TNFR1-induced proapoptotic signaling;Caspase activation via Death Receptors in the presence of ligand;TRIF-mediated programmed cell death;NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10;Regulation by c-FLIP;RIPK1-mediated regulated necrosis;CASP8 activity is inhibited;Dimerization of procaspase-8;TRAIL signaling;FasL/ CD95L signaling;TLR3-mediated TICAM1-dependent programmed cell death PE1 11 +NX_Q13162 Peroxiredoxin-4 271 30540 5.86 0 Endoplasmic reticulum;Cytoplasm;Cytosol NA Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events. Regulates the activation of NF-kappa-B in the cytosol by a modulation of I-kappa-B-alpha phosphorylation. The enzyme can be inactivated by further oxidation of the cysteine sulfenic acid (C(P)-SOH) to sulphinic acid (C(P)-SO2H) and sulphonic acid (C(P)-SO3H) instead of its condensation to a disulfide bond. Belongs to the peroxiredoxin family. AhpC/Prx1 subfamily. Neutrophil degranulation PE1 X +NX_Q13163 Dual specificity mitogen-activated protein kinase kinase 5 448 50112 5.98 0 Nucleolus;Cytoskeleton NA Acts as a scaffold for the formation of a ternary MAP3K2/MAP3K3-MAP3K5-MAPK7 signaling complex. Activation of this pathway appears to play a critical role in protecting cells from stress-induced apoptosis, neuronal survival and cardiac development and angiogenesis. Activated by phosphorylation on Ser/Thr by MAP kinase kinase kinases.;Yersinia yopJ may acetylate Ser/Thr residues, preventing phosphorylation and activation, thus blocking the MAPK signaling pathway.;MAP2K5 is phosphorylated by MAPK6 Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. MAPK signaling pathway;Gap junction;Neurotrophin signaling pathway;Signalling to ERK5 PE1 15 +NX_Q13164 Mitogen-activated protein kinase 7 816 88386 5.6 0 Cytoplasm;Nucleoplasm;PML body;Cytosol;Nucleus NA Plays a role in various cellular processes such as proliferation, differentiation and cell survival. The upstream activator of MAPK7 is the MAPK kinase MAP2K5. Upon activation, it translocates to the nucleus and phosphorylates various downstream targets including MEF2C. EGF activates MAPK7 through a Ras-independent and MAP2K5-dependent pathway. May have a role in muscle cell differentiation. May be important for endothelial function and maintenance of blood vessel integrity. MAP2K5 and MAPK7 interact specifically with one another and not with MEK1/ERK1 or MEK2/ERK2 pathways. Phosphorylates SGK1 at Ser-78 and this is required for growth factor-induced cell cycle progression. Involved in the regulation of p53/TP53 by disrupting the PML-MDM2 interaction. Dually phosphorylated on Thr-219 and Tyr-221, which activates the enzyme (By similarity). Autophosphorylated in vitro on threonine and tyrosine residues when the C-terminal part of the kinase, which could have a regulatory role, is absent. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. MAPK signaling pathway;Gap junction;Neurotrophin signaling pathway;GnRH signaling pathway;Senescence-Associated Secretory Phenotype (SASP);Gastrin-CREB signalling pathway via PKC and MAPK;ERK/MAPK targets;ERKs are inactivated;Signalling to ERK5;RET signaling PE1 17 +NX_Q13166 CATR tumorigenic conversion 1 protein 79 9224 8 0 NA NA NA NA NA NA PE2 7 +NX_Q13177 Serine/threonine-protein kinase PAK 2 524 58043 5.69 0 Cytoplasm;Membrane;Nucleoplasm;Cytoplasmic vesicle;Perinuclear region;Nucleus NA Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell motility, cell cycle progression, apoptosis or proliferation. Acts as downstream effector of the small GTPases CDC42 and RAC1. Activation by the binding of active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Full-length PAK2 stimulates cell survival and cell growth. Phosphorylates MAPK4 and MAPK6 and activates the downstream target MAPKAPK5, a regulator of F-actin polymerization and cell migration. Phosphorylates JUN and plays an important role in EGF-induced cell proliferation. Phosphorylates many other substrates including histone H4 to promote assembly of H3.3 and H4 into nucleosomes, BAD, ribosomal protein S6, or MBP. Additionally, associates with ARHGEF7 and GIT1 to perform kinase-independent functions such as spindle orientation control during mitosis. On the other hand, apoptotic stimuli such as DNA damage lead to caspase-mediated cleavage of PAK2, generating PAK-2p34, an active p34 fragment that translocates to the nucleus and promotes cellular apoptosis involving the JNK signaling pathway. Caspase-activated PAK2 phosphorylates MKNK1 and reduces cellular translation. During apoptosis proteolytically cleaved by caspase-3 or caspase-3-like proteases to yield active PAK-2p34.;Ubiquitinated, leading to its proteasomal degradation.;PAK-2p34 is myristoylated.;Full-length PAK2 is autophosphorylated when activated by CDC42/p21. Following cleavage, both peptides, PAK-2p27 and PAK-2p34, become highly autophosphorylated, with PAK-2p27 being phosphorylated on serine and PAK-2p34 on threonine residues, respectively. Autophosphorylation of PAK-2p27 can occur in the absence of any effectors and is dependent on phosphorylation of Thr-402, because PAK-2p27 is acting as an exogenous substrate.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);PAK2 is phosphorylated by FYN (Phosphotyrosine:PTM-0255);PAK2 is phosphorylated by SYK (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. MAPK signaling pathway;ErbB signaling pathway;Axon guidance;Focal adhesion;T cell receptor signaling pathway;Regulation of actin cytoskeleton;Renal cell carcinoma;Regulation of activated PAK-2p34 by proteasome mediated degradation;MAPK6/MAPK4 signaling;Generation of second messenger molecules;Ephrin signaling;FCERI mediated MAPK activation;VEGFA-VEGFR2 Pathway;VEGFR2 mediated vascular permeability;CD28 dependent Vav1 pathway;Sema3A PAK dependent Axon repulsion;CD209 (DC-SIGN) signaling;Nef and signal transduction;Smooth Muscle Contraction;RHO GTPases activate PAKs;Activation of RAC1;Regulation of PAK-2p34 activity by PS-GAP/RHG10;Stimulation of the cell death response by PAK-2p34;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 3 +NX_Q13183 Solute carrier family 13 member 2 592 64410 6.55 12 Membrane NA Cotransport of sodium ions and dicarboxylates such as succinate and citrate. NA Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily. Sodium-coupled sulphate, di- and tri-carboxylate transporters PE1 17 +NX_Q13185 Chromobox protein homolog 3 183 20811 5.23 0 Nucleoplasm;Nucleus NA Seems to be involved in transcriptional silencing in heterochromatin-like complexes. Recognizes and binds histone H3 tails methylated at 'Lys-9', leading to epigenetic repression. May contribute to the association of the heterochromatin with the inner nuclear membrane through its interaction with lamin B receptor (LBR). Involved in the formation of functional kinetochore through interaction with MIS12 complex proteins. Contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 'Lys-9' trimethylation, mediates the recruitment of the methyltransferases SUV39H1 and/or SUV39H2 by the PER complex to the E-box elements of the circadian target genes such as PER2 itself or PER1. Mediates the recruitment of NIPBL to sites of DNA damage at double-strand breaks (DSBs) (PubMed:28167679). Phosphorylated by PIM1. Phosphorylated during interphase and possibly hyper-phosphorylated during mitosis.;CBX3 is phosphorylated by PIM1 (Phosphoserine:PTM-0253) NA RNA Polymerase I Promoter Escape;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Transcriptional Regulation by E2F6 PE1 7 +NX_Q13188 Serine/threonine-protein kinase 3 491 56301 5.12 0 Cytoplasm;Nucleus;Cytoskeleton NA Stress-activated, pro-apoptotic kinase which, following caspase-cleavage, enters the nucleus and induces chromatin condensation followed by internucleosomal DNA fragmentation. Key component of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. STK3/MST2 and STK4/MST1 are required to repress proliferation of mature hepatocytes, to prevent activation of facultative adult liver stem cells (oval cells), and to inhibit tumor formation. Phosphorylates NKX2-1 (By similarity). Phosphorylates NEK2 and plays a role in centrosome disjunction by regulating the localization of NEK2 to centrosome, and its ability to phosphorylate CROCC and CEP250. In conjunction with SAV1, activates the transcriptional activity of ESR1 through the modulation of its phosphorylation. Positively regulates RAF1 activation via suppression of the inhibitory phosphorylation of RAF1 on 'Ser-259'. Phosphorylates MOBKL1A and RASSF2. Phosphorylates MOBKL1B on 'Thr-74'. Acts cooperatively with MOBKL1B to activate STK38. Phosphorylation at Thr-117 and Thr-384 by PKB/AKT1, leads to inhibition of its: cleavage, kinase activity, autophosphorylation at Thr-180, binding to RASSF1 and nuclear translocation, and increase in its binding to RAF1.;Proteolytically cleaved by caspase-3 during apoptosis. Proteolytic cleavage results in kinase activation and nuclear translocation of the truncated form (MST1/N). Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. MAPK signaling pathway;Signaling by Hippo PE1 8 +NX_Q13190 Syntaxin-5 355 39673 9.21 1 Golgi apparatus;Nucleoplasm;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus membrane NA Mediates endoplasmic reticulum to Golgi transport. Together with p115/USO1 and GM130/GOLGA2, involved in vesicle tethering and fusion at the cis-Golgi membrane to maintain the stacked and inter-connected structure of the Golgi apparatus. NA Belongs to the syntaxin family. SNARE interactions in vesicular transport;COPII-mediated vesicle transport;Cargo concentration in the ER;Intra-Golgi traffic;COPI-mediated anterograde transport;Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 11 +NX_Q13191 E3 ubiquitin-protein ligase CBL-B 982 109450 8.15 0 Nucleoplasm;Cytosol;Cytoplasm NA E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome. Negatively regulates TCR (T-cell receptor), BCR (B-cell receptor) and FCER1 (high affinity immunoglobulin epsilon receptor) signal transduction pathways. In naive T-cells, inhibits VAV1 activation upon TCR engagement and imposes a requirement for CD28 costimulation for proliferation and IL-2 production. Also acts by promoting PIK3R1/p85 ubiquitination, which impairs its recruitment to the TCR and subsequent activation. In activated T-cells, inhibits PLCG1 activation and calcium mobilization upon restimulation and promotes anergy. In B-cells, acts by ubiquitinating SYK and promoting its proteasomal degradation. Slightly promotes SRC ubiquitination. May be involved in EGFR ubiquitination and internalization. May be functionally coupled with the E2 ubiquitin-protein ligase UB2D3. In association with CBL, required for proper feedback inhibition of ciliary platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway via ubiquitination and internalization of PDGFRA (By similarity). Auto-ubiquitinated upon EGF-mediated cell activation or upon T-cell costimulation by CD28; which promotes proteasomal degradation.;Phosphorylated on tyrosine and serine residues upon TCR or BCR activation, and upon various types of cell stimulation. NA Protein modification; protein ubiquitination.;ErbB signaling pathway;Ubiquitin mediated proteolysis;Endocytosis;Jak-STAT signaling pathway;T cell receptor signaling pathway;Insulin signaling pathway;Bacterial invasion of epithelial cells;Measles;Pathways in cancer;Chronic myeloid leukemia;Antigen processing: Ubiquitination & Proteasome degradation PE1 3 +NX_Q13200 26S proteasome non-ATPase regulatory subunit 2 908 100200 5.08 0 NA NA Binds to the intracellular domain of tumor necrosis factor type 1 receptor. The binding domain of TRAP1 and TRAP2 resides outside the death domain of TNFR1.;Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. NA Belongs to the proteasome subunit S2 family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neutrophil degranulation;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 3 +NX_Q13201 Multimerin-1 1228 138110 8.15 0 Endoplasmic reticulum;Secreted NA Carrier protein for platelet (but not plasma) factor V/Va. Plays a role in the storage and stabilization of factor V in platelets. Upon release following platelet activation, may limit platelet and plasma factor Va-dependent thrombin generation. Ligand for integrin alpha-IIb/beta-3 and integrin alpha-V/beta-3 on activated platelets, and may function as an extracellular matrix or adhesive protein. The N-terminus is blocked.;Extensively N-glycosylated. NA Platelet degranulation PE1 4 +NX_Q13202 Dual specificity protein phosphatase 8 625 65827 8.58 0 Cytoplasm;Cytosol;Nucleus NA Has phosphatase activity with synthetic phosphatase substrates and negatively regulates mitogen-activated protein kinase activity, presumably by catalysing their dephosphorylation. Expected to display protein phosphatase activity toward phosphotyrosine, phosphoserine and phosphothreonine residues. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. MAPK signaling pathway;RAF-independent MAPK1/3 activation;Negative regulation of MAPK pathway PE1 11 +NX_Q13203 Myosin-binding protein H 477 52050 6.3 0 Nucleoplasm;Mitochondrion;Nucleolus NA Binds to myosin; probably involved in interaction with thick myofilaments in the A-band. NA Belongs to the immunoglobulin superfamily. MyBP family. NA PE1 1 +NX_Q13206 Probable ATP-dependent RNA helicase DDX10 875 100888 8.72 0 Cytoplasm;Nucleus;Nucleolus NA Putative ATP-dependent RNA helicase. NA Belongs to the DEAD box helicase family. DDX10/DBP4 subfamily. NA PE1 11 +NX_Q13207 T-box transcription factor TBX2 712 75066 9.13 0 Nucleoplasm;Cytosol;Nucleus Vertebral anomalies and variable endocrine and T-cell dysfunction Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence. May be required for cardiac atrioventricular canal formation. NA NA NA PE1 17 +NX_Q13214 Semaphorin-3B 749 83122 9.17 0 Endoplasmic reticulum;Secreted NA Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. NA Belongs to the semaphorin family. Axon guidance PE1 3 +NX_Q13216 DNA excision repair protein ERCC-8 396 44055 5.91 0 Nucleus matrix;Nucleus speckle;Nucleus UV-sensitive syndrome 2;Cockayne syndrome A Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA polymerase II-blocking lesions from the transcribed strand of active genes. Plays a role in DNA single-strand and double-strand breaks (DSSBs) repair; involved in repair of DSSBs by non-homologous end joining (NHEJ) (PubMed:29545921). NA NA Protein modification; protein ubiquitination.;Nucleotide excision repair;Ubiquitin mediated proteolysis;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Neddylation PE1 5 +NX_Q13217 DnaJ homolog subfamily C member 3 504 57580 5.83 0 Endoplasmic reticulum Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus Involved in the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Acts as a negative regulator of the EIF2AK4/GCN2 kinase activity by preventing the phosphorylation of eIF-2-alpha at 'Ser-52' and hence attenuating general protein synthesis under ER stress, hypothermic and amino acid starving stress conditions (By similarity). Co-chaperone of HSPA8/HSC70, it stimulates its ATPase activity. May inhibit both the autophosphorylation of EIF2AK2/PKR and the ability of EIF2AK2 to catalyze phosphorylation of the EIF2A. May inhibit EIF2AK3/PERK activity. NA NA Protein processing in endoplasmic reticulum;Influenza A;XBP1(S) activates chaperone genes;Viral mRNA Translation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Neutrophil degranulation;Post-translational protein phosphorylation PE1 13 +NX_Q13219 Pappalysin-1 1627 180973 5.76 0 Secreted NA Metalloproteinase which specifically cleaves IGFBP-4 and IGFBP-5, resulting in release of bound IGF. Cleavage of IGFBP-4 is dramatically enhanced by the presence of IGF, whereas cleavage of IGFBP-5 is slightly inhibited by the presence of IGF. There appear to be no free sulfhydryl groups. Belongs to the peptidase M43B family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) PE1 9 +NX_Q13224 Glutamate receptor ionotropic, NMDA 2B 1484 166367 6.47 3 Cell membrane;Postsynaptic cell membrane Epileptic encephalopathy, early infantile, 27;Mental retardation, autosomal dominant 6, with or without seizures Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:8768735, PubMed:26919761, PubMed:26875626, PubMed:28126851). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:8768735, PubMed:26875626). In concert with DAPK1 at extrasynaptic sites, acts as a central mediator for stroke damage. Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity inducing injurious Ca2+ influx through them, resulting in an irreversible neuronal death. Contributes to neural pattern formation in the developing brain. Plays a role in long-term depression (LTD) of hippocampus membrane currents and in synaptic plasticity (By similarity). Phosphorylated on tyrosine residues (By similarity). Phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity (By similarity). Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2B/GRIN2B subfamily. Neuroactive ligand-receptor interaction;Long-term potentiation;Glutamatergic synapse;Dopaminergic synapse;Alzheimer's disease;Amyotrophic lateral sclerosis (ALS);Huntington's disease;Systemic lupus erythematosus;RAF/MAP kinase cascade;EPHB-mediated forward signaling;Unblocking of NMDA receptors, glutamate binding and activation;Ras activation upon Ca2+ influx through NMDA receptor;Synaptic adhesion-like molecules;Neurexins and neuroligins;Activated NTRK2 signals through FYN;MECP2 regulates neuronal receptors and channels;Assembly and cell surface presentation of NMDA receptors;Negative regulation of NMDA receptor-mediated neuronal transmission;Long-term potentiation PE1 12 +NX_Q13227 G protein pathway suppressor 2 327 36689 9.52 0 Nucleoplasm;Cytosol;Mitochondrion;Nucleus NA Key regulator of inflammation, lipid metabolism and mitochondrion homeostasis that acts by inhibiting the activity of the ubiquitin-conjugating enzyme UBE2N/Ubc13, thereby inhibiting 'Lys-63'-linked ubiquitination (By similarity). In the nucleus, can both acts as a corepressor and coactivator of transcription, depending on the context (PubMed:24943844). Acts as a transcription coactivator in adipocytes by promoting the recruitment of PPARG to promoters: acts by inhibiting the activity of the ubiquitin-conjugating enzyme UBE2N/Ubc13, leading to stabilization of KDM4A and subsequent histone H3 'Lys-9' (H3K9) demethylation (By similarity). Promotes cholesterol efflux by acting as a transcription coactivator (PubMed:19481530). Acts as a regulator of B-cell development by inhibiting UBE2N/Ubc13, thereby restricting the activation of Toll-like receptors (TLRs) and B-cell antigen receptors (BCRs) signaling pathways (By similarity). Acts as a key mediator of mitochondrial stress response: in response to mitochondrial depolarization, relocates from the mitochondria to the nucleus following desumoylation and specifically promotes expression of nuclear-encoded mitochondrial genes (PubMed:29499132). Promotes transcription of nuclear-encoded mitochondrial genes by inhibiting UBE2N/Ubc13 (PubMed:29499132). Can also act as a corepressor as part of the N-Cor repressor complex by repressing active PPARG (PubMed:19858209, PubMed:24943844). Plays an anti-inflammatory role in macrophages and is required for insulin sensitivity by acting as a corepressor (By similarity). Plays an anti-inflammatory role during the hepatic acute phase response by interacting with sumoylated NR1H2 and NR5A2 proteins, thereby preventing N-Cor corepressor complex dissociation (PubMed:20159957). In the cytosol, also plays a non-transcriptional role by regulating insulin signaling and pro-inflammatory pathways (By similarity). In the cytoplasm, acts as a negative regulator of inflammation by inhibiting the proinflammatory TNF-alpha pathway; acts by repressing UBE2N/Ubc13 activity (By similarity). In the cytoplasm of adipocytes, restricts the activation of insulin signaling via inhibition of UBE2N/Ubc13-mediated ubiquitination of AKT (By similarity). Able to suppress G-protein- and mitogen-activated protein kinase-mediated signal transduction (PubMed:8943324). Acts as a tumor-suppressor in liposarcoma (PubMed:27460081).;(Microbial infection) Required for efficient replication of hepatitis C virus (HCV) by promoting the interaction between VAPA and HCV virus protein NS5A. Methylated at Arg-312 and Arg-323 by PRMT6. Methylation at Arg-323 protects from degradation by the proteasome.;Ubiquitinated at the C-terminus by SIAH2; leading to its degradation by the proteasome. Interaction with TBL1X and methylation at Arg-323 protect GPS2 against ubiquitination and degradation.;Sumoylation regulates its subcellular location (PubMed:24943844). Sumoylation at Lys-45 and Lys-71 regulates the shuttling between the cytoplasm and the nucleus (PubMed:24943844). Sumoylation at Lys-71 is required for interaction with TBL1X (By similarity). Sumoylated at Lys-45 and Lys-71 in mitochondrion (By similarity). Desumoylation by SENP1 leads to relocation from the mitochondria to the nucleus (By similarity). NA HTLV-I infection;PPARA activates gene expression;HDACs deacetylate histones;Regulation of MECP2 expression and activity;Loss of MECP2 binding ability to the NCoR/SMRT complex PE1 17 +NX_Q13228 Methanethiol oxidase 472 52391 5.93 0 Membrane;Nucleus;Nucleolus;Cytosol Extraoral halitosis due to methanethiol oxidase deficiency Catalyzes the oxidation of methanethiol, an organosulfur compound known to be produced in substantial amounts by gut bacteria (PubMed:29255262). Selenium-binding protein which may be involved in the sensing of reactive xenobiotics in the cytoplasm. May be involved in intra-Golgi protein transport (By similarity). The N-terminus is blocked.;Phosphorylated. Belongs to the selenium-binding protein family. Organosulfur degradation. PE1 1 +NX_Q13231 Chitotriosidase-1 466 51681 6.55 0 Secreted;Lysosome NA Has no enzymatic activity.;Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other pathogens. NA Belongs to the glycosyl hydrolase 18 family. Chitinase class II subfamily. Amino sugar and nucleotide sugar metabolism;Digestion of dietary carbohydrate;Neutrophil degranulation PE1 1 +NX_Q13232 Nucleoside diphosphate kinase 3 169 19015 7.71 0 Nucleoplasm;Cytosol NA Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Probably has a role in normal hematopoiesis by inhibition of granulocyte differentiation and induction of apoptosis. NA Belongs to the NDK family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;Interconversion of nucleotide di- and triphosphates PE1 16 +NX_Q13233 Mitogen-activated protein kinase kinase kinase 1 1512 164470 7.93 0 Cytosol 46,XY sex reversal 6 Component of a protein kinase signal transduction cascade (PubMed:9808624). Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4 (PubMed:9808624). May phosphorylate the MAPK8/JNK1 kinase (PubMed:17761173). Activates CHUK and IKBKB, the central protein kinases of the NF-kappa-B pathway (PubMed:9808624). Autophosphorylated.;MAP3K1 is phosphorylated by MAP4K2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. MAPK signaling pathway;Ubiquitin mediated proteolysis;RIG-I-like receptor signaling pathway;Neurotrophin signaling pathway;GnRH signaling pathway;HTLV-I infection;FCERI mediated MAPK activation;MyD88:MAL(TIRAP) cascade initiated on plasma membrane;TRAF6 mediated NF-kB activation;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;MyD88 cascade initiated on plasma membrane PE1 5 +NX_Q13237 cGMP-dependent protein kinase 2 762 87432 8.67 0 Apical cell membrane NA Crucial regulator of intestinal secretion and bone growth (By similarity). Phosphorylates and activates CFTR on the plasma membrane. Plays a key role in intestinal secretion by regulating cGMP-dependent translocation of CFTR in jejunum (By similarity). Acts downstream of NMDAR to activate the plasma membrane accumulation of GRIA1/GLUR1 in synapse and increase synaptic plasticity. Phosphorylates GRIA1/GLUR1 at Ser-863 (By similarity). Acts as regulator of gene expression and activator of the extracellular signal-regulated kinases MAPK3/ERK1 and MAPK1/ERK2 in mechanically stimulated osteoblasts. Under fluid shear stress, mediates ERK activation and subsequent induction of FOS, FOSL1/FRA1, FOSL2/FRA2 and FOSB that play a key role in the osteoblast anabolic response to mechanical stimulation (By similarity). Myristoylation mediates membrane localization. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. cGMP subfamily. Gap junction;Long-term depression;Olfactory transduction;Salivary secretion;Ca2+ pathway;Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation;cGMP effects PE1 4 +NX_Q13239 Src-like-adapter 276 31156 7.61 0 Cytoplasm;Endosome NA Adapter protein, which negatively regulates T-cell receptor (TCR) signaling. Inhibits T-cell antigen-receptor induced activation of nuclear factor of activated T-cells. Involved in the negative regulation of positive selection and mitosis of T-cells. May act by linking signaling proteins such as ZAP70 with CBL, leading to a CBL dependent degradation of signaling proteins. SLA is phosphorylated by KIT NA NA PE1 8 +NX_Q13241 Natural killer cells antigen CD94 179 20513 5.19 1 Cell membrane NA Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells. NA NA Antigen processing and presentation;Natural killer cell mediated cytotoxicity;Graft-versus-host disease;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;DAP12 signaling;DAP12 interactions PE1 12 +NX_Q13242 Serine/arginine-rich splicing factor 9 221 25542 8.74 0 Nucleoplasm;Nucleolus;Nucleus NA Plays a role in constitutive splicing and can modulate the selection of alternative splice sites. Represses the splicing of MAPT/Tau exon 10. Extensively phosphorylated on serine residues in the RS domain. Belongs to the splicing factor SR family. Spliceosome;Herpes simplex infection;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 12 +NX_Q13243 Serine/arginine-rich splicing factor 5 272 31264 11.59 0 Nucleus;Nucleoplasm;Cytosol;Nucleolus NA Plays a role in constitutive splicing and can modulate the selection of alternative splice sites. Extensively phosphorylated on serine residues in the RS domain.;SRSF5 is phosphorylated by CLK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SRSF5 is phosphorylated by CLK4 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SRSF5 is phosphorylated by SRPK1 (Phosphoserine:PTM-0253);SRSF5 is phosphorylated by SRPK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the splicing factor SR family. Spliceosome;Herpes simplex infection;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 14 +NX_Q13247 Serine/arginine-rich splicing factor 6 344 39587 11.42 0 Nucleus speckle;Nucleus NA Plays a role in constitutive splicing and modulates the selection of alternative splice sites. Plays a role in the alternative splicing of MAPT/Tau exon 10. Binds to alternative exons of TNC pre-mRNA and promotes the expression of alternatively spliced TNC. Plays a role in wound healing and in the regulation of keratinocyte differentiation and proliferation via its role in alternative splicing. Extensively phosphorylated on serine residues in the RS domain. Phosphorylated by DYRK1A, probably in the RS domain. Phosphorylation by DYRK1A modulates alternative splice site selection and inhibits the expression of MAPT/Tau exon 10.;SRSF6 is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SRSF6 is phosphorylated by CLK4;SRSF6 is phosphorylated by CLK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SRSF6 is phosphorylated by SRPK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SRSF6 is phosphorylated by SRPK1 (Phosphoserine:PTM-0253) Belongs to the splicing factor SR family. Spliceosome;Herpes simplex infection;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 20 +NX_Q13253 Noggin 232 25774 9.13 0 Secreted Stapes ankylosis with broad thumb and toes;Tarsal-carpal coalition syndrome;Multiple synostoses syndrome 1;Symphalangism, proximal 1A;Brachydactyly B2 Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Inhibits chondrocyte differentiation through its interaction with GDF5 and, probably, GDF6 (PubMed:21976273, PubMed:26643732). NA Belongs to the noggin family. TGF-beta signaling pathway;Signaling by BMP PE1 17 +NX_Q13255 Metabotropic glutamate receptor 1 1194 132357 6.27 7 Cytoplasmic vesicle;Cell membrane Spinocerebellar ataxia 44;Spinocerebellar ataxia, autosomal recessive, 13 G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phosphatidylinositol-calcium second messenger system. May participate in the central action of glutamate in the CNS, such as long-term potentiation in the hippocampus and long-term depression in the cerebellum (PubMed:24603153, PubMed:28886343, PubMed:7476890). May function in the light response in the retina (By similarity). NA Belongs to the G-protein coupled receptor 3 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Gap junction;Long-term potentiation;Glutamatergic synapse;Long-term depression;Huntington's disease;G alpha (q) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors);Neurexins and neuroligins PE1 6 +NX_Q13257 Mitotic spindle assembly checkpoint protein MAD2A 205 23510 5.02 0 Kinetochore;Cytoplasm;Nucleoplasm;Spindle pole;Nucleus NA Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. Required for the execution of the mitotic checkpoint which monitors the process of kinetochore-spindle attachment and inhibits the activity of the anaphase promoting complex by sequestering CDC20 until all chromosomes are aligned at the metaphase plate. Phosphorylated on multiple serine residues. The level of phosphorylation varies during the cell cycle and is highest during mitosis. Phosphorylation abolishes interaction with MAD1L1 and reduces interaction with CDC20. Phosphorylated by NEK2.;MAD2L1 is phosphorylated by NEK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the MAD2 family. Cell cycle;Oocyte meiosis;Progesterone-mediated oocyte maturation;HTLV-I infection;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of mitotic proteins;APC-Cdc20 mediated degradation of Nek2A;Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 4 +NX_Q13258 Prostaglandin D2 receptor 359 40271 9.39 7 Cell membrane Asthma-related traits 1 Receptor for prostaglandin D2 (PGD2). The activity of this receptor is mainly mediated by G(s) proteins that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP. A mobilization of calcium is also observed, but without formation of inositol 1,4,5-trisphosphate (By similarity). NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Prostanoid ligand receptors PE1 14 +NX_Q13261 Interleukin-15 receptor subunit alpha 267 28233 8.64 1 Endoplasmic reticulum membrane;Nucleus membrane;Membrane;Cell surface;Golgi apparatus membrane;Cytoplasmic vesicle membrane;Extracellular space NA High-affinity receptor for interleukin-15 (PubMed:8530383). Can signal both in cis and trans where IL15R from one subset of cells presents IL15 to neighboring IL2RG-expressing cells (By similarity). In neutrophils, binds and activates kinase SYK in response to IL15 stimulation (PubMed:15123770). In neutrophils, required for IL15-induced phagocytosis in a SYK-dependent manner (PubMed:15123770). Expression of different isoforms may alter or interfere with signal transduction (PubMed:10480910).;Does not bind IL15.;Does not bind IL15.;Does not bind IL15.;Does not bind IL15. A soluble form (sIL-15RA) arises from proteolytic shedding of the membrane-anchored receptor (PubMed:15265897). It also binds IL-15 and thus interferes with IL-15 binding to the membrane receptor (PubMed:15265897).;N-glycosylated and O-glycosylated. NA Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Intestinal immune network for IgA production;HTLV-I infection;Interleukin-15 signaling PE1 10 +NX_Q13263 Transcription intermediary factor 1-beta 835 88550 5.52 0 Nucleoplasm;Nucleus NA (Microbial infection) Plays a critical role in the shutdown of lytic gene expression during the early stage of herpes virus 8 primary infection. This inhibition is mediated through interaction with herpes virus 8 protein LANA1.;Nuclear corepressor for KRAB domain-containing zinc finger proteins (KRAB-ZFPs). Mediates gene silencing by recruiting CHD3, a subunit of the nucleosome remodeling and deacetylation (NuRD) complex, and SETDB1 (which specifically methylates histone H3 at 'Lys-9' (H3K9me)) to the promoter regions of KRAB target genes. Enhances transcriptional repression by coordinating the increase in H3K9me, the decrease in histone H3 'Lys-9 and 'Lys-14' acetylation (H3K9ac and H3K14ac, respectively) and the disposition of HP1 proteins to silence gene expression. Recruitment of SETDB1 induces heterochromatinization. May play a role as a coactivator for CEBPB and NR3C1 in the transcriptional activation of ORM1. Also corepressor for ERBB4. Inhibits E2F1 activity by stimulating E2F1-HDAC1 complex formation and inhibiting E2F1 acetylation. May serve as a partial backup to prevent E2F1-mediated apoptosis in the absence of RB1. Important regulator of CDKN1A/p21(CIP1). Has E3 SUMO-protein ligase activity toward itself via its PHD-type zinc finger. Also specifically sumoylates IRF7, thereby inhibiting its transactivation activity. Ubiquitinates p53/TP53 leading to its proteosomal degradation; the function is enhanced by MAGEC2 and MAGEA2, and possibly MAGEA3 and MAGEA6. Mediates the nuclear localization of KOX1, ZNF268 and ZNF300 transcription factors. In association with isoform 2 of ZFP90, is required for the transcriptional repressor activity of FOXP3 and the suppressive function of regulatory T-cells (Treg) (PubMed:23543754). Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (PubMed:24623306). Required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (PubMed:24623306). In ESCs, in collaboration with SETDB1, is also required for H3K9me3 and silencing of endogenous and introduced retroviruses in a DNA-methylation independent-pathway (By similarity). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing (PubMed:24623306). The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions (PubMed:27029610). Acts as a corepressor for ZFP568 (By similarity). Citrullinated by PADI4.;ATM-induced phosphorylation on Ser-824 represses sumoylation leading to the de-repression of expression of a subset of genes involved in cell cycle control and apoptosis in response to genotoxic stress. Dephosphorylation by the phosphatases, PPP1CA and PP1CB forms, allows sumoylation and expression of TRIM28 target genes.;Auto-ubiquitinated; enhanced by MAGEA2 and MAGEC2.;Sumoylation/desumoylation events regulate TRIM28-mediated transcriptional repression. Sumoylation is required for interaction with CHD3 and SETDB1 and the corepressor activity. Represses and is repressed by Ser-824 phosphorylation. Enhances the TRIM28 corepressor activity, inhibiting transcriptional activity of a number of genes including GADD45A and CDKN1A/p21. Lys-554, Lys-779 and Lys-804 are the major sites of sumoylation. In response to Dox-induced DNA damage, enhanced phosphorylation on Ser-824 prevents sumoylation and allows de-repression of CDKN1A/p21.;TRIM28 is phosphorylated by FES (Phosphotyrosine:PTM-0255) Belongs to the TRIM/RBCC family. Protein modification; protein sumoylation.;Generic Transcription Pathway;SUMOylation of transcription cofactors PE1 19 +NX_Q13268 Dehydrogenase/reductase SDR family member 2, mitochondrial 280 29927 9.21 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion;Nucleus NA Displays NADPH-dependent dicarbonyl reductase activity in vitro with 3,4-Hexanedione, 2,3-Heptanedione and 1-Phenyl-1,2-propanedione as substrates. No reductase activity is displayed in vitro with steroids, retinoids and sugars as substrates. Attenuates MDM2-mediated p53/TP53 degradation, leading to p53/TP53 stabilization and increased transcription activity, resulting in the accumulation of MDM2 and CDKN1A/p21. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. NA PE1 14 +NX_Q13275 Semaphorin-3F 785 88381 8.59 0 Secreted NA May play a role in cell motility and cell adhesion. NA Belongs to the semaphorin family. Axon guidance PE1 3 +NX_Q13277 Syntaxin-3 289 33155 5.31 1 Membrane;Nucleoplasm;Nucleus NA Potentially involved in docking of synaptic vesicles at presynaptic active zones. NA Belongs to the syntaxin family. SNARE interactions in vesicular transport;Synaptic vesicle cycle;Other interleukin signaling PE1 11 +NX_Q13278 Putative protein RIG 110 11984 8.36 0 NA NA May serve as a molecular marker for or play a role in the malignant progression of glioblastomas. NA NA NA PE5 11 +NX_Q13283 Ras GTPase-activating protein-binding protein 1 466 52164 5.36 0 Cytoplasm;Stress granule;Cell membrane;Perikaryon;Cytosol;Nucleus NA ATP- and magnesium-dependent helicase that plays an essential role in innate immunity (PubMed:30510222). Participates in the DNA-triggered cGAS/STING pathway by promoting the DNA binding and activation of CGAS. Enhances also DDX58-induced type I interferon production probably by helping DDX58 at sensing pathogenic RNA (PubMed:30804210). In addition, plays an essential role in stress granule formation (PubMed:12642610, PubMed:20180778, PubMed:23279204). Unwinds preferentially partial DNA and RNA duplexes having a 17 bp annealed portion and either a hanging 3' tail or hanging tails at both 5'- and 3'-ends (PubMed:9889278). Unwinds DNA/DNA, RNA/DNA, and RNA/RNA substrates with comparable efficiency (PubMed:9889278). Acts unidirectionally by moving in the 5' to 3' direction along the bound single-stranded DNA (PubMed:9889278). Phosphorylation-dependent sequence-specific endoribonuclease in vitro (PubMed:11604510). Cleaves exclusively between cytosine and adenine and cleaves MYC mRNA preferentially at the 3'-UTR (PubMed:11604510). Phosphorylated exclusively on serine residues. Hyperphosphorylated in quiescent fibroblasts. Hypophosphorylation leads to a decrease in endoribonuclease activity (By similarity). RASA1-dependent phosphorylation of Ser-149 induces a conformational change that prevents self-association. Dephosphorylation after HRAS activation is required for stress granule assembly. Ser-149 phosphorylation induces partial nuclear localization.;(Microbial infection) Cleaved by human enterovirus 71; this cleavage induces the disassembly of cytoplasmic stress granules (PubMed:30006004). Cleaved by Foot-and-mouth disease virus; this cleavage suppresses the formation of cytoplasmic stress granules (PubMed:30404792).;Arg-435 is dimethylated, probably to asymmetric dimethylarginine. NA NA PE1 5 +NX_Q13285 Steroidogenic factor 1 461 51636 7.81 0 Nucleus Adrenal insufficiency, NR5A1-related;Premature ovarian failure 7;46,XX sex reversal 4;46,XY sex reversal 3;Spermatogenic failure 8 Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues (PubMed:27378692). Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1 (PubMed:27378692). The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. Binds phosphatidylcholine (By similarity). Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3. Activated by the phosphorylation of NR5A1 by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation. Phosphorylated on Ser-203 by CDK7. This phosphorylation promotes transcriptional activity.;Acetylation stimulates the transcriptional activity.;Sumoylation reduces CDK7-mediated phosphorylation on Ser-203. Belongs to the nuclear hormone receptor family. NR5 subfamily. Transcriptional regulation of pluripotent stem cells;Nuclear Receptor transcription pathway;SUMOylation of intracellular receptors PE1 9 +NX_Q13286 Battenin 438 47623 5.93 6 Lysosome membrane;Late endosome;Lysosome Ceroid lipofuscinosis, neuronal, 3 Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes. Farnesylation is important for trafficking to lysosomes.;Highly glycosylated. Belongs to the battenin family. Lysosome PE1 16 +NX_Q13287 N-myc-interactor 307 35057 5.24 0 Nucleoplasm;Cytoplasm;Cytosol NA May be involved in augmenting coactivator protein recruitment to a group of sequence-specific transcription factors. Augments cytokine-mediated STAT transcription. Enhances CBP/p300 coactivator protein recruitment to STAT1 and STAT5. NA Belongs to the NMI family. NA PE1 2 +NX_Q13291 Signaling lymphocytic activation molecule 335 37231 8.7 1 Secreted;Cell membrane NA (Microbial infection) Acts as a receptor for Measles virus; also including isoform 4.;Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. SLAMF1-induced signal-transduction events in T-lymphocytes are different from those in B-cells. Two modes of SLAMF1 signaling seem to exist: one depending on SH2D1A (and perhaps SH2D1B) and another in which protein-tyrosine phosphatase 2C (PTPN11)-dependent signal transduction operates. Initially it has been proposed that association with SH2D1A prevents binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2 (PubMed:11806999). However, signaling is also regulated by SH2D1A which can simultaneously interact with and recruit FYN which subsequently phosphorylates and activates SLAMF1 (PubMed:12458214). Mediates IL-2-independent proliferation of activated T-cells during immune responses and induces IFN-gamma production (By similarity). Downstreaming signaling involves INPP5D, DOK1 and DOK2 leading to inhibited IFN-gamma production in T-cells, and PRKCQ, BCL10 and NFKB1 leading to increased T-cell activation and Th2 cytokine production (By similarity). Promotes T-cell receptor-induced IL-4 secretion by CD4(+) cells (By similarity). Inhibits antigen receptor-mediated production of IFN-gamma, but not IL-2, in CD4(-)/CD8(-) T-cells (By similarity). Required for IL-4 production by germinal centers T follicular helper (T(Fh))cells (By similarity). May inhibit CD40-induced signal transduction in monocyte-derived dendritic cells (PubMed:16317102). May play a role in allergic responses and may regulate allergen-induced Th2 cytokine and Th1 cytokine secretion (By similarity). In conjunction with SLAMF6 controls the transition between positive selection and the subsequent expansion and differentiation of the thymocytic natural killer T (NKT) cell lineage. Involved in the peripheral differentiation of indifferent natural killer T (iNKT) cells toward a regulatory NKT2 type (By similarity). In macrophages involved in down-regulation of IL-12, TNF-alpha and nitric oxide in response to lipopolysaccharide (LPS) (By similarity). In B-cells activates the ERK signaling pathway independently of SH2D1A but implicating both, SYK and INPP5D, and activates Akt signaling dependent on SYK and SH2D1A (By similarity). In B-cells also activates p38 MAPK and JNK1 and JNK2 (PubMed:20231852). In conjunction with CD84/SLAMF5 and SLAMF6 may be a negative regulator of the humoral immune response (By similarity). Involved in innate immune response against Gram-negative bacteria in macrophages; probably recognizes OmpC and/or OmpF on the bacterial surface, regulates phagosome maturation and recruitment of the PI3K complex II (PI3KC3-C2) leading to accumulation of PdtIns(3)P and NOX2 activity in the phagosomes (PubMed:20818396). Phosphorylated on tyrosine residues by FYN. NA Measles PE1 1 +NX_Q13296 Mammaglobin-A 93 10499 4.17 0 Secreted NA NA NA Belongs to the secretoglobin family. Lipophilin subfamily. NA PE1 11 +NX_Q13303 Voltage-gated potassium channel subunit beta-2 367 41000 9.11 0 Cytoplasm;Cell membrane;Synaptosome;Membrane;Axon;Cytoskeleton NA Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits (PubMed:7649300, PubMed:11825900). Contributes to the regulation of nerve signaling, and prevents neuronal hyperexcitability (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Promotes potassium channel closure via a mechanism that does not involve physical obstruction of the channel pore (PubMed:7649300, PubMed:11825900). Promotes KCNA4 channel closure (PubMed:7649300, PubMed:11825900). Modulates the functional properties of KCNA5 (By similarity). Enhances KCNB2 channel activity (By similarity). Binds NADPH and has NADPH-dependent aldoketoreductase activity (By similarity). Has broad substrate specificity and can catalyze the reduction of methylglyoxal, 9,10-phenanthrenequinone, prostaglandin J2, 4-nitrobenzaldehyde, 4-nitroacetophenone and 4-oxo-trans-2-nonenal (in vitro) (By similarity). Phosphorylated by PRKCZ; may be regulated by incorporation in a complex composed of PRKCZ and SQSTM1. Belongs to the shaker potassium channel beta subunit family. Voltage gated Potassium channels;Neutrophil degranulation PE1 1 +NX_Q13304 Uracil nucleotide/cysteinyl leukotriene receptor 367 40989 9.58 7 Cytoplasmic vesicle;Cell membrane NA Dual specificity receptor for uracil nucleotides and cysteinyl leukotrienes (CysLTs). Signals through G(i) and inhibition of adenylyl cyclase. May mediate brain damage by nucleotides and CysLTs following ischemia. NA Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;G alpha (q) signalling events;P2Y receptors;Leukotriene receptors PE1 2 +NX_Q13308 Inactive tyrosine-protein kinase 7 1070 118392 6.67 1 Membrane;Cell junction NA Inactive tyrosine kinase involved in Wnt signaling pathway. Component of both the non-canonical (also known as the Wnt/planar cell polarity signaling) and the canonical Wnt signaling pathway. Functions in cell adhesion, cell migration, cell polarity, proliferation, actin cytoskeleton reorganization and apoptosis. Has a role in embryogenesis, epithelial tissue organization and angiogenesis. MMP14 cleaves PTK7 between Pro-621 and Leu-622 generating an N-terminal soluble (70 kDa) fragment and a membrane C-terminal (50 kDa) fragment. Proteolysis by MMP14 regulates PTK7 function in non-canonical Wnt signaling pathway. Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. NA PE1 6 +NX_Q13309 S-phase kinase-associated protein 2 424 47761 6.67 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Through the ubiquitin-mediated proteasomal degradation of hepatitis C virus non-structural protein 5A, has an antiviral activity towards that virus.;Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins involved in cell cycle progression, signal transduction and transcription. Specifically recognizes phosphorylated CDKN1B/p27kip and is involved in regulation of G1/S transition. Degradation of CDKN1B/p27kip also requires CKS1. Recognizes target proteins ORC1, CDT1, RBL2, KMT2A/MLL1, CDK9, RAG2, FOXO1, UBP43, and probably MYC, TOB1 and TAL1. Degradation of TAL1 also requires STUB1. Recognizes CDKN1A in association with CCNE1 or CCNE2 and CDK2. Promotes ubiquitination and destruction of CDH1 in a CK1-Dependent Manner, thereby regulating cell migration. Ubiquitinated by the APC/C complex, leading to its degradation by the proteasome. Deubiquitinated by USP13.;Acetylation at Lys-68 and Lys-71 increases stability through impairment of APC/C-mediated proteolysis and promotes cytoplasmic retention. Deacetylated by SIRT3. NA Protein modification; protein ubiquitination.;Cell cycle;Ubiquitin mediated proteolysis;Herpes simplex infection;Pathways in cancer;Small cell lung cancer;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Orc1 removal from chromatin;Antigen processing: Ubiquitination & Proteasome degradation;SCF(Skp2)-mediated degradation of p27/p21;Cyclin D associated events in G1;Ub-specific processing proteases;Neddylation;Regulation of RUNX2 expression and activity PE1 5 +NX_Q13310 Polyadenylate-binding protein 4 644 70783 9.31 0 Cytoplasm;Cytosol NA Binds the poly(A) tail of mRNA. May be involved in cytoplasmic regulatory processes of mRNA metabolism. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo (By similarity). Arg-518 is dimethylated, probably to asymmetric dimethylarginine. Belongs to the polyadenylate-binding protein type-1 family. RNA transport;mRNA surveillance pathway;RNA degradation PE1 1 +NX_Q13315 Serine-protein kinase ATM 3056 350687 6.39 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle Ataxia telangiectasia Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2, CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9, UBQLN4 and DCLRE1C (PubMed:9843217, PubMed:9733515, PubMed:10550055, PubMed:10766245, PubMed:10839545, PubMed:10910365, PubMed:10802669, PubMed:10973490, PubMed:11375976, PubMed:12086603, PubMed:15456891, PubMed:19965871, PubMed:30612738). May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends. Phosphorylation of DYRK2 in nucleus in response to genotoxic stress prevents its MDM2-mediated ubiquitination and subsequent proteasome degradation. Phosphorylates ATF2 which stimulates its function in DNA damage response. Phosphorylates ERCC6 which is essential for its chromatin remodeling activity at DNA double-strand breaks (PubMed:29203878). Acetylation, on DNA damage, is required for activation of the kinase activity, dimer-monomer transition, and subsequent autophosphorylation on Ser-1981. Acetylated in vitro by KAT5/TIP60.;Phosphorylated by NUAK1/ARK5. Autophosphorylation on Ser-367, Ser-1893, Ser-1981 correlates with DNA damage-mediated activation of the kinase.;ATM is phosphorylated by NUAK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the PI3/PI4-kinase family. ATM subfamily. Cell cycle;p53 signaling pathway;Apoptosis;HTLV-I infection;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of HSF1-mediated heat shock response;DNA Damage/Telomere Stress Induced Senescence;Meiotic recombination;G2/M DNA damage checkpoint;Stabilization of p53;Sensing of DNA Double Strand Breaks;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Nonhomologous End-Joining (NHEJ);TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;TP53 Regulates Transcription of DNA Repair Genes;Regulation of TP53 Activity through Phosphorylation;Regulation of TP53 Degradation;Regulation of TP53 Activity through Methylation;TP53 Regulates Transcription of Caspase Activators and Caspases PE1 11 +NX_Q13316 Dentin matrix acidic phosphoprotein 1 513 55782 4 0 Cytoplasm;Extracellular matrix;Nucleus Hypophosphatemic rickets, autosomal recessive, 1 May have a dual function during osteoblast differentiation. In the nucleus of undifferentiated osteoblasts, unphosphorylated form acts as a transcriptional component for activation of osteoblast-specific genes like osteocalcin. During the osteoblast to osteocyte transition phase it is phosphorylated and exported into the extracellular matrix, where it regulates nucleation of hydroxyapatite. Phosphorylated in the cytosol and extracellular matrix and unphosphorylated in the nucleus. Phosphorylation is necessary for nucleocytoplasmic transport and may be catalyzed by a nuclear isoform of CK2 and can be augmented by calcium. Phosphorylated (in vitro) by FAM20C in the extracellular medium at sites within the S-x-E/pS motif. NA ECM proteoglycans;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 4 +NX_Q13319 Cyclin-dependent kinase 5 activator 2 367 38705 9.76 0 Cell membrane NA Activator of CDK5/TPKII. Myristoylated. The Gly-2-Ala mutant is absent of the cell periphery, suggesting that a proper myristoylation signal is essential for the proper distribution of CDK5R2 (p39). Belongs to the cyclin-dependent kinase 5 activator family. NA PE1 2 +NX_Q13322 Growth factor receptor-bound protein 10 594 67231 8.06 0 Cytoplasm;Cytoplasmic vesicle NA Adapter protein which modulates coupling of a number of cell surface receptor kinases with specific signaling pathways. Binds to, and suppress signals from, activated receptors tyrosine kinases, including the insulin (INSR) and insulin-like growth factor (IGF1R) receptors. The inhibitory effect can be achieved by 2 mechanisms: interference with the signaling pathway and increased receptor degradation. Delays and reduces AKT1 phosphorylation in response to insulin stimulation. Blocks association between INSR and IRS1 and IRS2 and prevents insulin-stimulated IRS1 and IRS2 tyrosine phosphorylation. Recruits NEDD4 to IGF1R, leading to IGF1R ubiquitination, increased internalization and degradation by both the proteasomal and lysosomal pathways. May play a role in mediating insulin-stimulated ubiquitination of INSR, leading to proteasomal degradation. Negatively regulates Wnt signaling by interacting with LRP6 intracellular portion and interfering with the binding of AXIN1 to LRP6. Positive regulator of the KDR/VEGFR-2 signaling pathway. May inhibit NEDD4-mediated degradation of KDR/VEGFR-2. Phosphorylated on serine residues upon EGF, FGF and PDGF stimulation (By similarity). Phosphorylated at Tyr-67 by TEC.;GRB10 is phosphorylated by RET (Phosphotyrosine:PTM-0255) Belongs to the GRB7/10/14 family. Signaling by SCF-KIT;IRS activation;Signal attenuation;Insulin receptor signalling cascade;RET signaling PE1 7 +NX_Q13323 Bcl-2-interacting killer 160 18016 4.21 1 Mitochondrion membrane;Endomembrane system NA Accelerates programmed cell death. Association to the apoptosis repressors Bcl-X(L), BHRF1, Bcl-2 or its adenovirus homolog E1B 19k protein suppresses this death-promoting activity. Does not interact with BAX. Proteolytically cleaved by RHBDL4/RHBDD1. RHBDL4/RHBDD1-induced cleavage is a necessary step prior its degradation by the proteosome-dependent mechanism. NA NA PE1 22 +NX_Q13324 Corticotropin-releasing factor receptor 2 411 47688 7.87 7 Cell membrane NA G-protein coupled receptor for CRH (corticotropin-releasing factor), UCN (urocortin), UCN2 and UCN3. Has high affinity for UCN. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and down-stream effectors, such as adenylate cyclase. Promotes the activation of adenylate cyclase, leading to increased intracellular cAMP levels. A N-glycosylation site within the signal peptide impedes its proper cleavage and function. Belongs to the G-protein coupled receptor 2 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Class B/2 (Secretin family receptors);Synthesis, secretion, and deacylation of Ghrelin PE1 7 +NX_Q13325 Interferon-induced protein with tetratricopeptide repeats 5 482 55847 7 0 Ruffle membrane;Cell membrane NA Interferon-induced RNA-binding protein involved in the human innate immune response. Has a broad and adaptable RNA structure recognition important for RNA recognition specificity in antiviral defense. Binds precursor and processed tRNAs as well as poly-U-tailed tRNA fragments (PubMed:25092312, PubMed:23317505, PubMed:23774268). Specifically binds single-stranded RNA bearing a 5'-triphosphate group (PPP-RNA), thereby acting as a sensor of viral single-stranded RNAs. Single-stranded PPP-RNAs, which lack 2'-O-methylation of the 5' cap and bear a 5'-triphosphate group instead, are specific from viruses, providing a molecular signature to distinguish between self and non-self mRNAs by the host during viral infection. Directly binds PPP-RNA in a non-sequence-specific manner (PubMed:23334420). Also recognizes and selectively binds AT-rich dsDNA (PubMed:23774268). Additionally, as a mediator in innate immunity, regulates positively IKK-NFKB signaling by sinergizing the recruitment of IKK to MAP3K7 (PubMed:26334375). NA Belongs to the IFIT family. NA PE1 10 +NX_Q13326 Gamma-sarcoglycan 291 32379 5.64 1 Sarcolemma;Cytoskeleton Muscular dystrophy, limb-girdle, autosomal recessive 5 Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. NA Belongs to the sarcoglycan beta/delta/gamma/zeta family. Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Viral myocarditis PE1 13 +NX_Q13330 Metastasis-associated protein MTA1 715 80786 9.34 0 Cytoplasm;Nucleoplasm;Nucleus envelope;Cytosol;Nucleus;Cytoskeleton NA Transcriptional coregulator which can act as both a transcriptional corepressor and coactivator. As a part of the histone-deacetylase multiprotein complex (NuRD), regulates transcription of its targets by modifying the acetylation status of the target chromatin and cofactor accessibility to the target DNA. In conjunction with other components of NuRD, acts as a transcriptional corepressor of BRCA1, ESR1, TFF1 and CDKN1A. Acts as a transcriptional coactivator of BCAS3, PAX5 and SUMO2, independent of the NuRD complex. Stimulates the expression of WNT1 by inhibiting the expression of its transcriptional corepressor SIX3. Regulates p53-dependent and -independent DNA repair processes following genotoxic stress. Regulates the stability and function of p53/TP53 by inhibiting its ubiquitination by COP1 and MDM2 thereby regulating the p53-dependent DNA repair. Plays an important role in tumorigenesis, tumor invasion, and metastasis. Involved in the epigenetic regulation of ESR1 expression in breast cancer in a TFAP2C, IFI16 and HDAC4/5/6-dependent manner. Plays a role in the regulation of the circadian clock and is essential for the generation and maintenance of circadian rhythms under constant light and for normal entrainment of behavior to light-dark (LD) cycles. Positively regulates the CLOCK-ARNTL/BMAL1 heterodimer mediated transcriptional activation of its own transcription and the transcription of CRY1. Regulates deacetylation of ARNTL/BMAL1 by regulating SIRT1 expression, resulting in derepressing CRY1-mediated transcription repression.;Binds to ESR1 and sequesters it in the cytoplasm and enhances its non-genomic responses. With TFCP2L1, promotes establishment and maintenance of pluripotency in embryonic stem cells (ESCs) and inhibits endoderm differentiation (By similarity). Phosphorylation by CSNK1G2/CK1 triggered by estrogen enhances corepression of estrogen receptor (ER).;Acetylation is essential for its transcriptional coactivator activity.;Sumoylation positively regulates its transcriptional corepressor activity but does not affect the protein stability. Sumoylated preferentially by SUMO2 or SUMO3 than SUMO1. Sumoylation is enhanced by PIAS1/3/4 and preferentially sumoylated by SUMO2 in the presence of PIAS1/3/4. Desumoylated by SENP1.;Ubiquitinated by COP1, which leads to proteasomal degradation.;MTA1 is phosphorylated by CSNK1G2 NA RNA Polymerase I Transcription Initiation;HDACs deacetylate histones;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;SUMOylation of transcription factors;Regulation of PTEN gene transcription PE1 14 +NX_Q13332 Receptor-type tyrosine-protein phosphatase S 1948 217041 6.06 1 Cell membrane;Synaptosome;Growth cone;Perikaryon;Synaptic vesicle membrane;Postsynaptic density;Cytosol;Neuron projection;Axon NA Cell surface receptor that binds to glycosaminoglycans, including chondroitin sulfate proteoglycans and heparan sulfate proteoglycan (PubMed:21454754). Binding to chondroitin sulfate and heparan sulfate proteoglycans has opposite effects on PTPRS oligomerization and regulation of neurite outgrowth. Contributes to the inhibition of neurite and axonal outgrowth by chondroitin sulfate proteoglycans, also after nerve transection. Plays a role in stimulating neurite outgrowth in response to the heparan sulfate proteoglycan GPC2. Required for normal brain development, especially for normal development of the pituitary gland and the olfactory bulb. Functions as tyrosine phosphatase (PubMed:8524829). Mediates dephosphorylation of NTRK1, NTRK2 and NTRK3 (By similarity). Plays a role in down-regulation of signaling cascades that lead to the activation of Akt and MAP kinases (By similarity). Down-regulates TLR9-mediated activation of NF-kappa-B, as well as production of TNF, interferon alpha and interferon beta (PubMed:26231120). A cleavage occurs, separating the extracellular domain from the transmembrane segment. This process called 'ectodomain shedding' is thought to be involved in receptor desensitization, signal transduction and/or membrane localization (By similarity). Belongs to the protein-tyrosine phosphatase family. Receptor class 2A subfamily. ECM proteoglycans;Synaptic adhesion-like molecules;Receptor-type tyrosine-protein phosphatases;Signaling by NTRK3 (TRKC) PE1 19 +NX_Q13336 Urea transporter 1 389 42528 6.79 8 Basolateral cell membrane;Cell membrane NA Urea channel that facilitates transmembrane urea transport down a concentration gradient. A constriction of the transmembrane channel functions as selectivity filter through which urea is expected to pass in dehydrated form. The rate of urea conduction is increased by hypotonic stress. Plays an important role in the kidney medulla collecting ducts, where it allows rapid equilibration between the lumen of the collecting ducts and the interstitium, and thereby prevents water loss driven by the high concentration of urea in the urine. Facilitates urea transport across erythrocyte membranes. May also play a role in transmembrane water transport, possibly by indirect means. NA Belongs to the urea transporter family. Transport of bile salts and organic acids, metal ions and amine compounds PE1 18 +NX_Q13342 Nuclear body protein SP140 867 98223 5.21 0 Cytoplasm;Mitochondrion;Nucleolus;PML body;Nucleus NA Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body (PubMed:8910577). May be involved in the pathogenesis of acute promyelocytic leukemia and viral infection (PubMed:8910577). May play a role in chromatin-mediated regulation of gene expression although it does not bind to histone H3 tails (PubMed:24267382). Phosphorylation at Thr-726 promotes binding of PIN1 and subsequent isomerization of Pro-727. NA NA PE1 2 +NX_Q13347 Eukaryotic translation initiation factor 3 subunit I 325 36502 5.38 0 Cytoplasm;Cytosol NA Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). Phosphorylated by TGF-beta type II receptor. Belongs to the eIF-3 subunit I family. RNA transport;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit PE1 1 +NX_Q13349 Integrin alpha-D 1161 126758 5.5 1 Membrane NA Integrin alpha-D/beta-2 is a receptor for ICAM3 and VCAM1. May play a role in the atherosclerotic process such as clearing lipoproteins from plaques and in phagocytosis of blood-borne pathogens, particulate matter, and senescent erythrocytes from the blood. NA Belongs to the integrin alpha chain family. Regulation of actin cytoskeleton;Integrin cell surface interactions PE1 16 +NX_Q13351 Krueppel-like factor 1 362 38221 6.67 0 Nucleoplasm;Nucleus Anemia, congenital dyserythropoietic, 4 Transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. Is a dual regulator of fetal-to-adult globin switching. Binds to the CACCC box in the beta-globin gene promoter and acts as a preferential activator of this gene. Furthermore, it binds to the BCL11A promoter and activates expression of BCL11A, which in turn represses the HBG1 and HBG2 genes. This dual activity ensures that, in most adults, fetal hemoglobin levels are low. Able to activate CD44 and AQP1 promoters. When sumoylated, acts as a transcriptional repressor by promoting interaction with CDH2/MI2beta and also represses megakaryocytic differentiation. Sumoylated; sumoylation, promoted by PIAS1, leads to repression of megakaryocyte differentiation. Also promotes the interaction with the CDH4 subunit of the NuRD repression complex (By similarity).;Phosphorylated primarily on serine residues in the transactivation domain. Phosphorylation on Thr-23 is critical for the transactivation activity (By similarity).;Acetylated; can be acetylated on both Lys-274 and Lys-288. Acetylation on Lys-274 (by CBP) appears to be the major site affecting EKLF transactivation activity (By similarity). Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q13352 Centromere protein R 177 20194 9.13 0 Kinetochore;Cytoplasm;Nucleoplasm;Centromere;Nucleus NA Transcription coregulator that can have both coactivator and corepressor functions.;But not other isoforms, is involved in the coactivation of nuclear receptors for retinoid X (RXRs) and thyroid hormone (TRs) in a ligand-dependent fashion. In contrast, it does not coactivate nuclear receptors for retinoic acid, vitamin D, progesterone receptor, nor glucocorticoid. Acts as a coactivator for estrogen receptor alpha. Acts as a transcriptional corepressor via its interaction with the NFKB1 NF-kappa-B subunit, possibly by interfering with the transactivation domain of NFKB1. Induces apoptosis in breast cancer cells, but not in other cancer cells, via a caspase-2 mediated pathway that involves mitochondrial membrane permeabilization but does not require other caspases. May also act as an inhibitor of cyclin A-associated kinase. Also acts a component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. NA NA Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Deposition of new CENPA-containing nucleosomes at the centromere;NRIF signals cell death from the nucleus;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 1 +NX_Q13356 RING-type E3 ubiquitin-protein ligase PPIL2 520 58823 8.92 0 Nucleoplasm;Nucleus NA Has a ubiquitin-protein ligase activity acting as an E3 ubiquitin protein ligase or as an ubiquitin-ubiquitin ligase promoting elongation of ubiquitin chains on substrates. By mediating 'Lys-48'-linked polyubiquitination of proteins could target them for proteasomal degradation (PubMed:11435423). May also function as a chaperone, playing a role in transport to the cell membrane of BSG/Basigin for instance (PubMed:15946952). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357). NA Belongs to the cyclophilin-type PPIase family. PPIL2 subfamily. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Basigin interactions PE1 22 +NX_Q13360 Zinc finger protein 177 481 54782 8.53 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q13361 Microfibrillar-associated protein 5 173 19612 5.64 0 Extracellular matrix Aortic aneurysm, familial thoracic 9 May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity (By similarity). Component of the elastin-associated microfibrils (PubMed:8557636). Forms intermolecular disulfide bonds either with other MAGP-2 molecules or with other components of the microfibrils.;N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. O-glycan heterogeneity at Thr-54: HexHexNAc (major) and HexHexNAc + sulfate (minor). Belongs to the MFAP family. Molecules associated with elastic fibres;Elastic fibre formation PE1 12 +NX_Q13362 Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform 524 61061 6.41 0 Golgi apparatus;Nucleoplasm;Centromere;Cytosol;Nucleus NA The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. The PP2A-PPP2R5C holoenzyme may specifically dephosphorylate and activate TP53 and play a role in DNA damage-induced inhibition of cell proliferation. PP2A-PPP2R5C may also regulate the ERK signaling pathway through ERK dephosphorylation. Is phosphorylated on serine residues.;Phosphorylation by ERK2 is IER3-dependent and inhibits ERK dephosphorylation by PP2A-PPP2R5C. Belongs to the phosphatase 2A regulatory subunit B56 family. mRNA surveillance pathway;Oocyte meiosis;Wnt signaling pathway;Dopaminergic synapse;Degradation of beta-catenin by the destruction complex;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Negative regulation of MAPK pathway;RAF activation;Disassembly of the destruction complex and recruitment of AXIN to the membrane;CTLA4 inhibitory signaling;Beta-catenin phosphorylation cascade;Misspliced GSK3beta mutants stabilize beta-catenin;S33 mutants of beta-catenin aren't phosphorylated;S37 mutants of beta-catenin aren't phosphorylated;S45 mutants of beta-catenin aren't phosphorylated;T41 mutants of beta-catenin aren't phosphorylated;APC truncation mutants have impaired AXIN binding;AXIN missense mutants destabilize the destruction complex;Truncations of AMER1 destabilize the destruction complex;Platelet sensitization by LDL;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Regulation of TP53 Degradation PE1 14 +NX_Q13363 C-terminal-binding protein 1 440 47535 6.28 0 Nucleoplasm;Cytoplasm;Nucleus Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome Corepressor targeting diverse transcription regulators such as GLIS2 or BCL6. Has dehydrogenase activity. Involved in controlling the equilibrium between tubular and stacked structures in the Golgi complex. Functions in brown adipose tissue (BAT) differentiation. ADP-ribosylated; when cells are exposed to brefeldin A.;Sumoylation on Lys-428 is promoted by the E3 SUMO-protein ligase CBX4.;The level of phosphorylation appears to be regulated during the cell cycle. Phosphorylation by HIPK2 on Ser-422 induces proteasomal degradation. Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. Wnt signaling pathway;Notch signaling pathway;Pathways in cancer;Chronic myeloid leukemia;Deactivation of the beta-catenin transactivating complex;Repression of WNT target genes;TCF7L2 mutants don't bind CTBP;SUMOylation of transcription cofactors PE1 4 +NX_Q13367 AP-3 complex subunit beta-2 1082 119059 5.43 0 Nucleoplasm;Golgi apparatus;Cytosol;Clathrin-coated vesicle membrane Epileptic encephalopathy, early infantile, 48 Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. NA Belongs to the adaptor complexes large subunit family. Lysosome PE1 15 +NX_Q13368 MAGUK p55 subfamily member 3 585 66152 6.34 0 Nucleoplasm;Cytosol NA NA NA Belongs to the MAGUK family. NA PE1 17 +NX_Q13370 cGMP-inhibited 3',5'-cyclic phosphodiesterase B 1112 124333 5.61 6 Membrane;Endoplasmic reticulum NA Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. May play a role in fat metabolism. Regulates cAMP binding of RAPGEF3. Through simultaneous binding to RAPGEF3 and PIK3R6 assembles a signaling complex in which the PI3K gamma complex is activated by RAPGEF3 and which is involved in angiogenesis. NA Belongs to the cyclic nucleotide phosphodiesterase family. PDE3 subfamily. Purine metabolism;Insulin signaling pathway;Progesterone-mediated oocyte maturation;G alpha (s) signalling events;PDE3B signalling PE1 11 +NX_Q13371 Phosducin-like protein 301 34282 4.65 0 Cytoplasm;Nucleoplasm;Cilium;Cytosol NA Acts as a positive regulator of hedgehog signaling and regulates ciliary function.;Functions as a co-chaperone for CCT in the assembly of heterotrimeric G protein complexes, facilitates the assembly of both Gbeta-Ggamma and RGS-Gbeta5 heterodimers.;Acts as a negative regulator of heterotrimeric G proteins assembly by trapping the preloaded G beta subunits inside the CCT chaperonin. NA Belongs to the phosducin family. Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding PE1 9 +NX_Q13387 C-Jun-amino-terminal kinase-interacting protein 2 824 87975 4.36 0 Cytoplasm NA The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. JIP2 inhibits IL1 beta-induced apoptosis in insulin-secreting cells. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity). NA Belongs to the JIP scaffold family. MAPK signaling pathway PE1 22 +NX_Q13393 Phospholipase D1 1074 124184 8.91 0 Endoplasmic reticulum membrane;Perinuclear region;Late endosome membrane;Golgi apparatus membrane Cardiac valvular defect, developmental Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis. May be involved in the regulation of perinuclear intravesicular membrane traffic (By similarity). NA Belongs to the phospholipase D family. Glycerophospholipid metabolism;Ether lipid metabolism;Metabolic pathways;Endocytosis;Fc gamma R-mediated phagocytosis;Glutamatergic synapse;GnRH signaling pathway;Pathways in cancer;Pancreatic cancer;Synthesis of PA;Role of phospholipids in phagocytosis;Synthesis of PG;Neutrophil degranulation PE1 3 +NX_Q13394 Putative nucleotidyltransferase MAB21L1 359 40956 8.94 0 Nucleus NA Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye (By similarity). It is unclear whether it displays nucleotidyltransferase activity in vivo (PubMed:27271801). Binds single-stranded RNA (ssRNA) (PubMed:27271801). NA Belongs to the mab-21 family. NA PE1 13 +NX_Q13395 Probable methyltransferase TARBP1 1621 181675 6.66 0 Nucleus speckle NA Probable S-adenosyl-L-methionine-dependent methyltransferase which methylates RNA molecules such as tRNAs.;(Microbial infection) In case of infection by HIV-1, it binds to the loop region of TAR RNA, a region also bound by RNA polymerase II (PubMed:7638159, PubMed:8626763, PubMed:8846792). Binding of TARBP1 and RNA polymerase II to HIV-1 TAR RNA is mutually exclusive, suggesting that TARBP1 may function alone or in conjunction with HIV-1 Tat to disengage RNA polymerase II from HIV-1 TAR RNA (PubMed:7638159, PubMed:8626763, PubMed:8846792). NA Belongs to the class IV-like SAM-binding methyltransferase superfamily. RNA methyltransferase TrmH family. NA PE1 1 +NX_Q13398 Zinc finger protein 211 564 64535 8.83 0 Cytoplasm;Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q13401 Putative postmeiotic segregation increased 2-like protein 3 168 18716 4.52 0 NA NA NA NA Belongs to the DNA mismatch repair MutL/HexB family. NA PE5 7 +NX_Q13402 Unconventional myosin-VIIa 2215 254390 8.79 0 Cytoplasm;Cytosol;Cell cortex;Cytoskeleton Usher syndrome 1B;Deafness, autosomal dominant, 11;Deafness, autosomal recessive, 2 Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity (By similarity). Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. The canonical retinoid cycle in rods (twilight vision) PE1 11 +NX_Q13404 Ubiquitin-conjugating enzyme E2 variant 1 147 16495 7.71 0 Nucleus NA Has no ubiquitin ligase activity on its own. The UBE2V1-UBE2N heterodimer catalyzes the synthesis of non-canonical poly-ubiquitin chains that are linked through Lys-63. This type of poly-ubiquitination activates IKK and does not seem to involve protein degradation by the proteasome. Plays a role in the activation of NF-kappa-B mediated by IL1B, TNF, TRAF6 and TRAF2. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage. Promotes TRIM5 capsid-specific restriction activity and the UBE2V1-UBE2N heterodimer acts in concert with TRIM5 to generate 'Lys-63'-linked polyubiquitin chains which activate the MAP3K7/TAK1 complex which in turn results in the induction and expression of NF-kappa-B and MAPK-responsive inflammatory genes. NA Belongs to the ubiquitin-conjugating enzyme family. FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;NOD1/2 Signaling Pathway;activated TAK1 mediates p38 MAPK activation;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling;IKK complex recruitment mediated by RIP1;IRAK1 recruits IKK complex;IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;TICAM1, RIP1-mediated IKK complex recruitment;Interleukin-1 signaling PE1 20 +NX_Q13405 39S ribosomal protein L49, mitochondrial 166 19198 9.47 0 Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mL49 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 11 +NX_Q13409 Cytoplasmic dynein 1 intermediate chain 2 638 71457 5.08 0 Cytoplasm;Nucleolus;Endoplasmic reticulum;Cytosol;Nucleus;Cytoskeleton NA Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCNT1. Involved in membrane-transport, such as Golgi apparatus, late endosomes and lysosomes. The phosphorylation status of Ser-90 appears to be involved in dynactin-dependent target binding. Belongs to the dynein intermediate chain family. Phagosome;Vasopressin-regulated water reabsorption;Salmonella infection;Separation of Sister Chromatids;Anchoring of the basal body to the plasma membrane;MHC class II antigen presentation;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Recruitment of NuMA to mitotic centrosomes;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;AURKA Activation by TPX2;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 2 +NX_Q13410 Butyrophilin subfamily 1 member A1 526 58960 5.38 1 Membrane;Secreted NA May function in the secretion of milk-fat droplets. May act as a specific membrane-associated receptor for the association of cytoplasmic droplets with the apical plasma membrane (By similarity). Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion (By similarity). N-glycosylated. Belongs to the immunoglobulin superfamily. BTN/MOG family. Butyrophilin (BTN) family interactions PE1 6 +NX_Q13415 Origin recognition complex subunit 1 861 97350 9.34 0 Nucleoplasm;Nucleus Meier-Gorlin syndrome 1 Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Phosphorylated during mitosis. Belongs to the ORC1 family. Cell cycle;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;Activation of ATR in response to replication stress;CDC6 association with the ORC:origin complex;Assembly of the pre-replicative complex;Activation of the pre-replicative complex;G1/S-Specific Transcription;E2F-enabled inhibition of pre-replication complex formation;Assembly of the ORC complex at the origin of replication PE1 1 +NX_Q13416 Origin recognition complex subunit 2 577 65972 6.07 0 Nucleoplasm;Cytosol;Nucleus NA Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K20me3 and H4K27me3. Stabilizes LRWD1, by protecting it from ubiquitin-mediated proteasomal degradation. Also stabilizes ORC3. NA Belongs to the ORC2 family. Cell cycle;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;Activation of ATR in response to replication stress;CDC6 association with the ORC:origin complex;Assembly of the pre-replicative complex;Activation of the pre-replicative complex;E2F-enabled inhibition of pre-replication complex formation;Assembly of the ORC complex at the origin of replication PE1 2 +NX_Q13418 Integrin-linked protein kinase 452 51419 8.3 0 Cell membrane;Cell junction;Focal adhesion;Sarcomere;Nucleoplasm;Lamellipodium NA Receptor-proximal protein kinase regulating integrin-mediated signal transduction (PubMed:8538749, PubMed:9736715). May act as a mediator of inside-out integrin signaling. Focal adhesion protein part of the complex ILK-PINCH. This complex is considered to be one of the convergence points of integrin- and growth factor-signaling pathway. Could be implicated in mediating cell architecture, adhesion to integrin substrates and anchorage-dependent growth in epithelial cells. Phosphorylates beta-1 and beta-3 integrin subunit on serine and threonine residues, but also AKT1 and GSK3B (PubMed:8538749, PubMed:9736715). Autophosphorylated on serine residues. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. PPAR signaling pathway;Focal adhesion;Bacterial invasion of epithelial cells;Endometrial cancer;Localization of the PINCH-ILK-PARVIN complex to focal adhesions;Cell-extracellular matrix interactions PE1 11 +NX_Q13421 Mesothelin 630 68986 6.03 0 Golgi apparatus;Cell membrane;Secreted;Nucleoplasm;Cytoplasmic vesicle NA Membrane-anchored forms may play a role in cellular adhesion.;Megakaryocyte-potentiating factor (MPF) potentiates megakaryocyte colony formation in vitro. Both MPF and the cleaved form of mesothelin are N-glycosylated.;Proteolytically cleaved by a furin-like convertase to generate megakaryocyte-potentiating factor (MPF), and the cleaved form of mesothelin. Belongs to the mesothelin family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational modification: synthesis of GPI-anchored proteins;Post-translational protein phosphorylation PE1 16 +NX_Q13422 DNA-binding protein Ikaros 519 57528 6.12 0 Cytoplasm;Nucleus Immunodeficiency, common variable, 13 Transcription regulator of hematopoietic cell differentiation (PubMed:17934067). Binds gamma-satellite DNA (PubMed:17135265, PubMed:19141594). Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delta-A element) of the CD3-delta gene. Repressor of the TDT (fikzfterminal deoxynucleotidyltransferase) gene during thymocyte differentiation. Regulates transcription through association with both HDAC-dependent and HDAC-independent complexes. Targets the 2 chromatin-remodeling complexes, NuRD and BAF (SWI/SNF), in a single complex (PYR complex), to the beta-globin locus in adult erythrocytes. Increases normal apoptosis in adult erythroid cells. Confers early temporal competence to retinal progenitor cells (RPCs) (By similarity). Function is isoform-specific and is modulated by dominant-negative inactive isoforms (PubMed:17135265, PubMed:17934067). Sumoylated. Simulataneous sumoylation on the 2 sites results in a loss of both HDAC-dependent and HDAC-independent repression. Has no effect on pericentromeric heterochromatin location. Desumoylated by SENP1 (By similarity).;Phosphorylation controls cell-cycle progression from late G(1) stage to S stage. Hyperphosphorylated during G2/M phase. Dephosphorylated state during late G(1) phase. Phosphorylation on Thr-140 is required for DNA and pericentromeric location during mitosis. CK2 is the main kinase, in vitro. GSK3 and CDK may also contribute to phosphorylation of the C-terminal serine and threonine residues. Phosphorylation on these C-terminal residues reduces the DNA-binding ability. Phosphorylation/dephosphorylation events on Ser-13 and Ser-295 regulate TDT expression during thymocyte differentiation. Dephosphorylation by protein phosphatase 1 regulates stability and pericentromeric heterochromatin location. Phosphorylated in both lymphoid and non-lymphoid tissues (By similarity). Phosphorylation at Ser-361 and Ser-364 downstream of SYK induces nuclear translocation.;Polyubiquitinated. Belongs to the Ikaros C2H2-type zinc-finger protein family. NOTCH3 Intracellular Domain Regulates Transcription PE1 7 +NX_Q13423 NAD(P) transhydrogenase, mitochondrial 1086 113896 8.31 14 Mitochondrion inner membrane;Mitochondrion Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions as a proton pump across the membrane (By similarity). May play a role in reactive oxygen species (ROS) detoxification in the adrenal gland (PubMed:22634753). NA In the N-terminal section; belongs to the AlaDH/PNT family.;In the C-terminal section; belongs to the PNT beta subunit family. Nicotinate and nicotinamide metabolism;Metabolic pathways;Citric acid cycle (TCA cycle) PE1 5 +NX_Q13424 Alpha-1-syntrophin 505 53895 6.35 0 Cell junction;Sarcolemma;Cytoskeleton Long QT syndrome 12 Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5-bisphosphate (By similarity). Phosphorylated by CaM-kinase II. Phosphorylation may inhibit the interaction with DMD (By similarity). Belongs to the syntrophin family. NA PE1 20 +NX_Q13425 Beta-2-syntrophin 540 57950 9.03 0 Membrane;Cell junction;Secretory vesicle membrane;Cytoskeleton NA Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. May play a role in the regulation of secretory granules via its interaction with PTPRN. Phosphorylated. Partially dephosphorylated upon insulin stimulation. Belongs to the syntrophin family. NA PE1 16 +NX_Q13426 DNA repair protein XRCC4 336 38287 4.91 0 Nucleoplasm;Nucleus Short stature, microcephaly, and endocrine dysfunction Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends. Monoubiquitinated.;Phosphorylated by PRKDC. The phosphorylation seems not to be necessary for binding to DNA. Phosphorylation by CK2 promotes interaction with APTX.;Sumoylation at Lys-210 is required for nuclear localization and recombination efficiency. Has no effect on ubiquitination. Belongs to the XRCC4 family. Non-homologous end-joining;SUMOylation of DNA damage response and repair proteins;2-LTR circle formation;Nonhomologous End-Joining (NHEJ) PE1 5 +NX_Q13427 Peptidyl-prolyl cis-trans isomerase G 754 88617 10.29 0 Nucleus matrix;Nucleus speckle;Nucleus;Cytosol NA PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). May be implicated in the folding, transport, and assembly of proteins. May play an important role in the regulation of pre-mRNA splicing. NA NA NA PE1 2 +NX_Q13428 Treacle protein 1488 152106 9.06 0 Nucleolus Treacher Collins syndrome 1 Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:12777385, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). Ubiquitinated. Monoubiquitination by the BCR(KBTBD8) complex promotes the formation of a NOLC1-TCOF1 complex that acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). NA Ribosome biogenesis in eukaryotes PE1 5 +NX_Q13432 Protein unc-119 homolog A 240 26962 6 0 Spindle pole;Spindle;Centrosome Immunodeficiency 13 Involved in synaptic functions in photoreceptor cells, the signal transduction in immune cells as a Src family kinase activator, endosome recycling, the uptake of bacteria and endocytosis, protein trafficking in sensory neurons and as lipid-binding chaperone with specificity for a diverse subset of myristoylated proteins. Specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated GNAT1 and is required for G-protein localization and trafficking in sensory neurons. Probably plays a role in trafficking proteins in photoreceptor cells. Plays important roles in mediating Src family kinase signals for the completion of cytokinesis via RAB11A. NA Belongs to the PDE6D/unc-119 family. NA PE1 17 +NX_Q13433 Zinc transporter ZIP6 755 85047 6.45 6 Nucleoplasm;Cytosol;Cell membrane NA May act as a zinc-influx transporter. N-glycosylated. Belongs to the ZIP transporter (TC 2.A.5) family. Zinc influx into cells by the SLC39 gene family PE1 18 +NX_Q13434 Putative E3 ubiquitin-protein ligase makorin-4 485 52910 5.08 0 NA NA May act as a E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. NA NA Protein modification; protein ubiquitination. PE5 X +NX_Q13435 Splicing factor 3B subunit 2 895 100228 5.52 0 Nucleus speckle;Nucleus NA Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643). SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the 'E' complex (PubMed:10882114). Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077). Methylation at Arg-508 by PRMT9 is required for the interaction with SMN1. NA Spliceosome;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway PE1 11 +NX_Q13438 Protein OS-9 667 75562 4.8 0 Endoplasmic reticulum;Endoplasmic reticulum lumen NA Lectin which functions in endoplasmic reticulum (ER) quality control and ER-associated degradation (ERAD). May bind terminally misfolded non-glycosylated proteins as well as improperly folded glycoproteins, retain them in the ER, and possibly transfer them to the ubiquitination machinery and promote their degradation. Possible targets include TRPV4. Intramolecular disulfide bonds.;Are N-glycosylated. Belongs to the OS-9 family. Protein processing in endoplasmic reticulum;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;ER Quality Control Compartment (ERQC);ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis PE1 12 +NX_Q13439 Golgin subfamily A member 4 2230 261140 5.33 0 Golgi apparatus;Cytoplasm;trans-Golgi network membrane;Nucleoplasm;Golgi apparatus membrane NA Involved in vesicular trafficking at the Golgi apparatus level. May play a role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with MACF1. Involved in endosome-to-Golgi trafficking (PubMed:29084197). NA NA Retrograde transport at the Trans-Golgi-Network PE1 3 +NX_Q13442 28 kDa heat- and acid-stable phosphoprotein 181 20630 8.84 0 Cytosol;Cell membrane NA Enhances PDGFA-stimulated cell growth in fibroblasts, but inhibits the mitogenic effect of PDGFB. NA Belongs to the PDAP1 family. Neutrophil degranulation PE1 7 +NX_Q13443 Disintegrin and metalloproteinase domain-containing protein 9 819 90556 7.71 1 Endoplasmic reticulum;Cytoplasmic vesicle;Secreted;Cell membrane Cone-rod dystrophy 9 May act as alpha-secretase for amyloid precursor protein (APP).;Cleaves and releases a number of molecules with important roles in tumorigenesis and angiogenesis, such as TEK, KDR, EPHB4, CD40, VCAM1 and CDH5. May mediate cell-cell, cell-matrix interactions and regulate the motility of cells via interactions with integrins. Phosphorylation is induced in vitro by phorbol-12-myristate-13-acetate (PMA).;Proteolytically cleaved in the trans-Golgi network before it reaches the plasma membrane to generate a mature protein. The removal of the pro-domain occurs via cleavage at two different sites. Processed most likely by a pro-protein convertase such as furin, at the boundary between the pro-domain and the catalytic domain. An additional upstream cleavage pro-protein convertase site (Arg-56/Glu-57) has an important role in the activation of ADAM9. NA Collagen degradation PE1 8 +NX_Q13444 Disintegrin and metalloproteinase domain-containing protein 15 863 92959 6.3 1 Endomembrane system;Adherens junction;Flagellum;Cytoplasmic vesicle;Acrosome NA Active metalloproteinase with gelatinolytic and collagenolytic activity. Plays a role in the wound healing process. Mediates both heterotypic intraepithelial cell/T-cell interactions and homotypic T-cell aggregation. Inhibits beta-1 integrin-mediated cell adhesion and migration of airway smooth muscle cells. Suppresses cell motility on or towards fibronectin possibly by driving alpha-v/beta-1 integrin (ITAGV-ITGB1) cell surface expression via ERK1/2 inactivation. Cleaves E-cadherin in response to growth factor deprivation. Plays a role in glomerular cell migration. Plays a role in pathological neovascularization. May play a role in cartilage remodeling. May be proteolytically processed, during sperm epididymal maturation and the acrosome reaction. May play a role in sperm-egg binding through its disintegrin domain. Phosphorylation increases association with PTKs.;The precursor is cleaved by a furin endopeptidase. NA Degradation of the extracellular matrix;Invadopodia formation PE1 1 +NX_Q13445 Transmembrane emp24 domain-containing protein 1 227 25206 4.39 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;cis-Golgi network membrane;Endoplasmic reticulum membrane;Cell membrane NA Potential role in vesicular protein trafficking, mainly in the early secretory pathway. May act as a cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and may be involved in vesicle coat formation at the cytoplasmic side. NA Belongs to the EMP24/GP25L family. NA PE1 19 +NX_Q13449 Limbic system-associated membrane protein 338 37393 6.55 0 Cytosol;Cell membrane NA Mediates selective neuronal growth and axon targeting. Contributes to the guidance of developing axons and remodeling of mature circuits in the limbic system. Essential for normal growth of the hyppocampal mossy fiber projection (By similarity). NA Belongs to the immunoglobulin superfamily. IgLON family. Post-translational modification: synthesis of GPI-anchored proteins PE1 3 +NX_Q13451 Peptidyl-prolyl cis-trans isomerase FKBP5 457 51212 5.71 0 Nucleoplasm;Cytoplasm;Nucleus NA Immunophilin protein with PPIase and co-chaperone activities. Component of unligated steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). Plays a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors maintaining the complex into the cytoplasm when unliganded. NA NA HSP90 chaperone cycle for steroid hormone receptors (SHR);ESR-mediated signaling;MECP2 regulates neuronal receptors and channels PE1 6 +NX_Q13454 Tumor suppressor candidate 3 348 39676 9.93 4 Endoplasmic reticulum membrane Mental retardation, autosomal recessive 7 Magnesium transporter.;Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with MAGT1. In its oxidized form proposed to form transient mixed disulfides with a glycoprotein substrate to facilitate access of STT3B to the unmodified acceptor site. Has also oxidoreductase-independent functions in the STT3B-containing OST complex possibly involving substrate recognition. NA Belongs to the OST3/OST6 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Protein processing in endoplasmic reticulum;Miscellaneous transport and binding events;Asparagine N-linked glycosylation PE1 8 +NX_Q13459 Unconventional myosin-IXb 2157 243401 8.91 0 Cytosol;Cell cortex;Perinuclear region;Cytoskeleton Celiac disease 4 Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Binds actin with high affinity both in the absence and presence of ATP and its mechanochemical activity is inhibited by calcium ions (PubMed:9490638). Also acts as a GTPase activator for RHOA (PubMed:9490638, PubMed:26529257). Plays a role in the regulation of cell migration via its role as RHOA GTPase activator. This is regulated by its interaction with the SLIT2 receptor ROBO1; interaction with ROBO1 impairs interaction with RHOA and subsequent activation of RHOA GTPase activity, and thereby leads to increased levels of active, GTP-bound RHOA (PubMed:26529257). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Regulation of actin dynamics for phagocytic cup formation;Rho GTPase cycle;SLIT2:ROBO1 increases RHOA activity PE1 19 +NX_Q13461 Forkhead box protein E3 319 33234 9.72 0 Nucleus Anterior segment dysgenesis 2;Aortic aneurysm, familial thoracic 11;Cataract 34, multiple types Transcription factor that controls lens epithelial cell growth through regulation of proliferation, apoptosis and cell cycle (PubMed:22527307, PubMed:25504734). During lens development, controls the ratio of the lens fiber cells to the cells of the anterior lens epithelium by regulating the rate of proliferation and differentiation (By similarity). Controls lens vesicle closure and subsequent separation of the lens vesicle from ectoderm (By similarity). Controls the expression of DNAJB1 in a pathway that is crucial for the development of the anterior segment of the eye (PubMed:27218149). NA NA NA PE1 1 +NX_Q13464 Rho-associated protein kinase 1 1354 158175 5.66 0 Cytoplasm;Cell membrane;Bleb;Centriole;Lamellipodium;Golgi apparatus membrane;Ruffle;Cytoskeleton NA Protein kinase which is a key regulator of actin cytoskeleton and cell polarity. Involved in regulation of smooth muscle contraction, actin cytoskeleton organization, stress fiber and focal adhesion formation, neurite retraction, cell adhesion and motility via phosphorylation of DAPK3, GFAP, LIMK1, LIMK2, MYL9/MLC2, PFN1 and PPP1R12A. Phosphorylates FHOD1 and acts synergistically with it to promote SRC-dependent non-apoptotic plasma membrane blebbing. Phosphorylates JIP3 and regulates the recruitment of JNK to JIP3 upon UVB-induced stress. Acts as a suppressor of inflammatory cell migration by regulating PTEN phosphorylation and stability. Acts as a negative regulator of VEGF-induced angiogenic endothelial cell activation. Required for centrosome positioning and centrosome-dependent exit from mitosis. Plays a role in terminal erythroid differentiation. May regulate closure of the eyelids and ventral body wall by inducing the assembly of actomyosin bundles. Promotes keratinocyte terminal differentiation. Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralization. Cleaved by caspase-3 during apoptosis. This leads to constitutive activation of the kinase and membrane blebbing.;Autophosphorylated on serine and threonine residues.;Autophosphorylated (Phosphoserine,Phosphothreonine:PTM-0253,PTM-0254) Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. Chemokine signaling pathway;Vascular smooth muscle contraction;Wnt signaling pathway;TGF-beta signaling pathway;Axon guidance;Focal adhesion;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Pathogenic Escherichia coli infection;Shigellosis;Salmonella infection;EPHB-mediated forward signaling;G alpha (12/13) signalling events;VEGFA-VEGFR2 Pathway;EPHA-mediated growth cone collapse;Apoptotic cleavage of cellular proteins;Sema4D induced cell migration and growth-cone collapse;RHO GTPases Activate ROCKs;Neutrophil degranulation PE1 18 +NX_Q13467 Frizzled-5 585 64507 8.69 7 Cell membrane;Perikaryon;Synapse;Golgi apparatus membrane;Axon;Dendrite NA Receptor for Wnt proteins (PubMed:9054360, PubMed:10097073, PubMed:20530549). Can activate WNT2, WNT10B, WNT5A, but not WNT2B or WNT4 (in vitro); the in vivo situation may be different since not all of these are known to be coexpressed (By similarity). In neurons, activation of WNT7A promotes formation of synapses (PubMed:20530549). Functions in the canonical Wnt/beta-catenin signaling pathway. The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (By similarity). A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable). Plays a role in yolk sac angiogenesis and in placental vascularization (By similarity). Ubiquitinated by RNF43 and ZNRF3, leading to its degradation by the proteasome. Belongs to the G-protein coupled receptor Fz/Smo family. Wnt signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;Asymmetric localization of PCP proteins;Class B/2 (Secretin family receptors);Ca2+ pathway;Regulation of FZD by ubiquitination;RNF mutants show enhanced WNT signaling and proliferation;Disassembly of the destruction complex and recruitment of AXIN to the membrane;WNT5A-dependent internalization of FZD2, FZD5 and ROR2 PE1 2 +NX_Q13469 Nuclear factor of activated T-cells, cytoplasmic 2 925 100146 6.87 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2, IL-3, IL-4, TNF-alpha or GM-CSF. Promotes invasive migration through the activation of GPC6 expression and WNT5A signaling pathway. Ubiquitinated in endothelial cells by RNF213 downstream of the non-canonical Wnt signaling pathway, leading to its degradation by the proteasome.;In resting cells, phosphorylated by NFATC-kinase on at least 18 sites in the 99-363 region. Upon cell stimulation, all these sites except Ser-243 are dephosphorylated by calcineurin. Dephosphorylation induces a conformational change that simultaneously exposes an NLS and masks an NES, which results in nuclear localization. Simultaneously, Ser-53 or Ser-56 is phosphorylated; which is required for full transcriptional activity. NA MAPK signaling pathway;Wnt signaling pathway;Axon guidance;VEGF signaling pathway;Osteoclast differentiation;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;HTLV-I infection;FCERI mediated Ca+2 mobilization;CLEC7A (Dectin-1) induces NFAT activation;Calcineurin activates NFAT;RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) PE1 20 +NX_Q13470 Non-receptor tyrosine-protein kinase TNK1 666 72468 9.57 0 Membrane;Cytoplasm;Cell junction NA Involved in negative regulation of cell growth. Has tumor suppressor properties. Plays a negative regulatory role in the Ras-MAPK pathway. May function in signaling pathways utilized broadly during fetal development and more selectively in adult tissues and in cells of the lymphohematopoietic system. Could specifically be involved in phospholipid signal transduction. Autophosphorylated on tyrosine residues. Belongs to the protein kinase superfamily. Tyr protein kinase family. NA PE1 17 +NX_Q13472 DNA topoisomerase 3-alpha 1001 112372 8.69 0 Mitochondrion matrix Microcephaly, growth restriction, and increased sister chromatid exchange 2;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand. The free DNA strand then undergoes passage around the unbroken strand thus removing DNA supercoils. Finally, in the religation step, the DNA 3'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone. As an essential component of the RMI complex it is involved in chromosome separation and the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Has DNA decatenation activity (PubMed:30057030). It is required for mtDNA decatenation and segregation after completion of replication, in a process that does not require BLM, RMI1 and RMI2 (PubMed:29290614). NA Belongs to the type IA topoisomerase family. Homologous recombination;Fanconi anemia pathway;Meiotic recombination;G2/M DNA damage checkpoint;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Regulation of TP53 Activity through Phosphorylation PE1 17 +NX_Q13474 Dystrophin-related protein 2 957 107962 5.82 0 Nucleus speckle;Cell membrane;Perikaryon;Postsynaptic density;Dendrite NA Required for normal myelination and for normal organization of the cytoplasm and the formation of Cajal bands in myelinating Schwann cells. Required for normal PRX location at appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane. Possibly involved in membrane-cytoskeleton interactions of the central nervous system. NA NA NA PE1 X +NX_Q13477 Mucosal addressin cell adhesion molecule 1 382 40155 5 1 Membrane NA Lacking the mucin-like domain, may be specialized in supporting integrin alpha-4/beta-7-dependent adhesion strengthening, independent of L-selectin binding.;Cell adhesion leukocyte receptor expressed by mucosal venules, helps to direct lymphocyte traffic into mucosal tissues including the Peyer patches and the intestinal lamina propria. It can bind both integrin alpha-4/beta-7 and L-selectin, regulating both the passage and retention of leukocytes. The Ser/Thr-rich mucin-like domain may provide possible sites for O-glycosylation. NA Cell adhesion molecules (CAMs);Intestinal immune network for IgA production;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Integrin cell surface interactions PE1 19 +NX_Q13478 Interleukin-18 receptor 1 541 62304 8.06 1 Membrane;Mitochondrion NA Within the IL18 receptor complex, responsible for the binding of the proinflammatory cytokine IL18, but not IL1A nor IL1B (PubMed:8626725, PubMed:14528293, PubMed:25261253, PubMed:25500532). Involved in IL18-mediated IFNG synthesis from T-helper 1 (Th1) cells (PubMed:10653850). Contributes to IL18-induced cytokine production, either independently of SLC12A3, or as a complex with SLC12A3 (By similarity). N-glycosylated. N-linked glycosyl chains contribute to ligand recognition and intra-receptor interactions required for formation of an active ternary receptor complex. Belongs to the interleukin-1 receptor family. Cytokine-cytokine receptor interaction;Interleukin-18 signaling;Interleukin-37 signaling PE1 2 +NX_Q13480 GRB2-associated-binding protein 1 694 76616 5.63 0 Cytosol;Nucleolus;Cell membrane Deafness, autosomal recessive, 26 Adapter protein that plays a role in intracellular signaling cascades triggered by activated receptor-type kinases. Plays a role in FGFR1 signaling. Probably involved in signaling by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR). Involved in the MET/HGF-signaling pathway (PubMed:29408807). Phosphorylated in response to FGFR1 activation. Phosphorylated on tyrosine residue(s) by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR). Tyrosine phosphorylation of GAB1 mediates interaction with several proteins that contain SH2 domains. Phosphorylated on tyrosine residues by HCK upon IL6 signaling.;GAB1 is phosphorylated by HCK;GAB1 is phosphorylated by SRC (Phosphotyrosine:PTM-0255);GAB1 is phosphorylated by MST1R (Phosphotyrosine:PTM-0255) Belongs to the GAB family. ErbB signaling pathway;Neurotrophin signaling pathway;Bacterial invasion of epithelial cells;Renal cell carcinoma;PI3K Cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;PI-3K cascade:FGFR1;PI-3K cascade:FGFR2;PI-3K cascade:FGFR3;PI-3K cascade:FGFR4;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;PI3K events in ERBB2 signaling;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;GAB1 signalosome;Constitutive Signaling by EGFRvIII;Signaling by FGFR4 in disease;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Signaling by FGFR3 point mutants in cancer;Signaling by FGFR3 fusions in cancer;RET signaling;MET activates RAP1 and RAC1;MET activates PI3K/AKT signaling;MET activates PTPN11;MET receptor recycling;Activated NTRK2 signals through PI3K;Erythropoietin activates Phosphoinositide-3-kinase (PI3K) PE1 4 +NX_Q13485 Mothers against decapentaplegic homolog 4 552 60439 6.5 0 Cytoplasm;Nucleoplasm;Centrosome;Cytosol;Nucleus Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Pancreatic cancer;Myhre syndrome;Juvenile polyposis syndrome;Colorectal cancer In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8. Acts synergistically with SMAD1 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response element (BMPRE) of cardiac activating regions (By similarity). Common SMAD (co-SMAD) is the coactivator and mediator of signal transduction by TGF-beta (transforming growth factor). Component of the heterotrimeric SMAD2/SMAD3-SMAD4 complex that forms in the nucleus and is required for the TGF-mediated signaling (PubMed:25514493). Promotes binding of the SMAD2/SMAD4/FAST-1 complex to DNA and provides an activation function required for SMAD1 or SMAD2 to stimulate transcription. Component of the multimeric SMAD3/SMAD4/JUN/FOS complex which forms at the AP1 promoter site; required for synergistic transcriptional activity in response to TGF-beta. May act as a tumor suppressor. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator. Monoubiquitinated on Lys-519 by E3 ubiquitin-protein ligase TRIM33. Monoubiquitination hampers its ability to form a stable complex with activated SMAD2/3 resulting in inhibition of TGF-beta/BMP signaling cascade. Deubiquitination by USP9X restores its competence to mediate TGF-beta signaling.;Phosphorylated by PDPK1.;SMAD4 is phosphorylated by PDPK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the dwarfin/SMAD family. Cell cycle;Wnt signaling pathway;TGF-beta signaling pathway;Adherens junction;HTLV-I infection;Pathways in cancer;Colorectal cancer;Pancreatic cancer;Chronic myeloid leukemia;Transcriptional regulation of pluripotent stem cells;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Downregulation of SMAD2/3:SMAD4 transcriptional activity;Signaling by BMP;TGF-beta receptor signaling activates SMADs;Signaling by NODAL;Signaling by Activin;SMAD4 MH2 Domain Mutants in Cancer;SMAD2/3 MH2 Domain Mutants in Cancer;Ub-specific processing proteases;RUNX3 regulates CDKN1A transcription;RUNX3 regulates BCL2L11 (BIM) transcription;RUNX2 regulates bone development;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes;FOXO-mediated transcription of cell cycle genes PE1 18 +NX_Q13487 snRNA-activating protein complex subunit 2 334 35556 5.79 0 Nucleoplasm;Cytosol;Nucleus NA Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box. NA NA RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 3 Promoter;RNA polymerase II transcribes snRNA genes PE1 19 +NX_Q13488 V-type proton ATPase 116 kDa subunit a isoform 3 830 92968 6.66 8 Membrane;Mitochondrion Osteopetrosis, autosomal recessive 1 Part of the proton channel of V-ATPases (By similarity). Seems to be directly involved in T-cell activation. NA Belongs to the V-ATPase 116 kDa subunit family. Oxidative phosphorylation;Metabolic pathways;Lysosome;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Tuberculosis;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport;Neutrophil degranulation PE1 11 +NX_Q13489 Baculoviral IAP repeat-containing protein 3 604 68372 5.71 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, mitogenic kinase signaling and cell proliferation, as well as cell invasion and metastasis. Acts as an E3 ubiquitin-protein ligase regulating NF-kappa-B signaling and regulates both canonical and non-canonical NF-kappa-B signaling by acting in opposite directions: acts as a positive regulator of the canonical pathway and suppresses constitutive activation of non-canonical NF-kappa-B signaling. The target proteins for its E3 ubiquitin-protein ligase activity include: RIPK1, RIPK2, RIPK3, RIPK4, CASP3, CASP7, CASP8, IKBKE, TRAF1, and BCL10. Acts as an important regulator of innate immune signaling via regulation of Toll-like receptors (TLRs), Nodlike receptors (NLRs) and RIG-I like receptors (RLRs), collectively referred to as pattern recognition receptors (PRRs). Protects cells from spontaneous formation of the ripoptosome, a large multi-protein complex that has the capability to kill cancer cells in a caspase-dependent and caspase-independent manner. Suppresses ripoptosome formation by ubiquitinating RIPK1 and CASP8. Auto-ubiquitinated and degraded by the proteasome in apoptotic cells. Belongs to the IAP family. Ubiquitin mediated proteolysis;Apoptosis;Focal adhesion;NOD-like receptor signaling pathway;Toxoplasmosis;HTLV-I infection;Pathways in cancer;Small cell lung cancer;TNFR2 non-canonical NF-kB pathway;NOD1/2 Signaling Pathway;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway;IKK complex recruitment mediated by RIP1;RIPK1-mediated regulated necrosis;Regulation of necroptotic cell death;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;Ub-specific processing proteases;TICAM1, RIP1-mediated IKK complex recruitment PE1 11 +NX_Q13490 Baculoviral IAP repeat-containing protein 2 618 69900 6.27 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, mitogenic kinase signaling, and cell proliferation, as well as cell invasion and metastasis. Acts as an E3 ubiquitin-protein ligase regulating NF-kappa-B signaling and regulates both canonical and non-canonical NF-kappa-B signaling by acting in opposite directions: acts as a positive regulator of the canonical pathway and suppresses constitutive activation of non-canonical NF-kappa-B signaling. The target proteins for its E3 ubiquitin-protein ligase activity include: RIPK1, RIPK2, RIPK3, RIPK4, CASP3, CASP7, CASP8, TRAF2, DIABLO/SMAC, MAP3K14/NIK, MAP3K5/ASK1, IKBKG/NEMO, IKBKE and MXD1/MAD1. Can also function as an E3 ubiquitin-protein ligase of the NEDD8 conjugation pathway, targeting effector caspases for neddylation and inactivation. Acts as an important regulator of innate immune signaling via regulation of Toll-like receptors (TLRs), Nodlike receptors (NLRs) and RIG-I like receptors (RLRs), collectively referred to as pattern recognition receptors (PRRs). Protects cells from spontaneous formation of the ripoptosome, a large multi-protein complex that has the capability to kill cancer cells in a caspase-dependent and caspase-independent manner. Suppresses ripoptosome formation by ubiquitinating RIPK1 and CASP8. Can stimulate the transcriptional activity of E2F1. Plays a role in the modulation of the cell cycle. Auto-ubiquitinated and degraded by the proteasome in apoptotic cells. Belongs to the IAP family. Ubiquitin mediated proteolysis;Apoptosis;Focal adhesion;NOD-like receptor signaling pathway;Toxoplasmosis;HTLV-I infection;Pathways in cancer;Small cell lung cancer;TNFR2 non-canonical NF-kB pathway;NOD1/2 Signaling Pathway;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway;Apoptotic cleavage of cellular proteins;IKK complex recruitment mediated by RIP1;RIPK1-mediated regulated necrosis;Regulation of necroptotic cell death;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;Ub-specific processing proteases;TICAM1, RIP1-mediated IKK complex recruitment PE1 11 +NX_Q13491 Neuronal membrane glycoprotein M6-b 265 28989 5.53 4 Cell membrane NA May be involved in neural development. Involved in regulation of osteoblast function and bone formation. Involved in matrix vesicle release by osteoblasts; this function seems to involve maintenance of the actin cytoskeleton. May be involved in cellular trafficking of SERT and thereby in regulation of serotonin uptake. NA Belongs to the myelin proteolipid protein family. NA PE1 X +NX_Q13492 Phosphatidylinositol-binding clathrin assembly protein 652 70755 7.7 0 Golgi apparatus;Clathrin-coated vesicle;Cell membrane;Clathrin-coated pit;Cytoplasmic vesicle;Nucleus NA Cytoplasmic adapter protein that plays a critical role in clathrin-mediated endocytosis which is important in processes such as internalization of cell receptors, synaptic transmission or removal of apoptotic cells. Recruits AP-2 and attaches clathrin triskelions to the cytoplasmic side of plasma membrane leading to clathrin-coated vesicles (CCVs) assembly (PubMed:10436022, PubMed:16262731, PubMed:27574975). Furthermore, regulates clathrin-coated vesicle size and maturation by directly sensing and driving membrane curvature (PubMed:25898166). In addition to binding to clathrin, mediates the endocytosis of small R-SNARES (Soluble NSF Attachment Protein REceptors) between plasma membranes and endosomes including VAMP2, VAMP3, VAMP4, VAMP7 or VAMP8 (PubMed:22118466, PubMed:21808019, PubMed:23741335). In turn, PICALM-dependent SNARE endocytosis is required for the formation and maturation of autophagic precursors (PubMed:25241929). Modulates thereby autophagy and the turnover of autophagy substrates such as MAPT/TAU or amyloid precursor protein cleaved C-terminal fragment (APP-CTF) (PubMed:25241929, PubMed:24067654). NA Belongs to the PICALM/SNAP91 family. Golgi Associated Vesicle Biogenesis;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 11 +NX_Q13495 Mastermind-like domain-containing protein 1 774 83231 8.54 0 Nucleoplasm;Nucleus Hypospadias 2, X-linked Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ. NA Belongs to the mastermind family. Pre-NOTCH Transcription and Translation;Notch-HLH transcription pathway;NOTCH2 intracellular domain regulates transcription;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells;RUNX3 regulates NOTCH signaling;NOTCH3 Intracellular Domain Regulates Transcription;NOTCH4 Intracellular Domain Regulates Transcription PE1 X +NX_Q13496 Myotubularin 603 69932 8.38 0 Cytoplasm;Cell membrane;Sarcomere;Filopodium;Late endosome;Ruffle Myopathy, centronuclear, X-linked Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) (PubMed:11001925, PubMed:10900271, PubMed:12646134, PubMed:14722070). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides (PubMed:9537414). Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome (PubMed:14722070). Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture (PubMed:21135508). Plays a role in mitochondrial morphology and positioning (PubMed:21135508). Required for skeletal muscle maintenance but not for myogenesis (PubMed:21135508). In skeletal muscles, stabilizes MTMR12 protein levels (PubMed:23818870). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Synthesis of PIPs at the plasma membrane;Synthesis of PIPs at the early endosome membrane;Synthesis of PIPs at the late endosome membrane PE1 X +NX_Q13501 Sequestosome-1 440 47687 5.1 0 Sarcomere;Endoplasmic reticulum;Autophagosome;PML body;Late endosome;Cytoplasmic vesicle;Cytosol;Lysosome;Nucleus Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;Paget disease of bone 3;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset;Myopathy, distal, with rimmed vacuoles Autophagy receptor required for selective macroautophagy (aggrephagy). Functions as a bridge between polyubiquitinated cargo and autophagosomes. Interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family (PubMed:16286508, PubMed:20168092, PubMed:24128730, PubMed:28404643, PubMed:22622177). Along with WDFY3, involved in the formation and autophagic degradation of cytoplasmic ubiquitin-containing inclusions (p62 bodies, ALIS/aggresome-like induced structures). Along with WDFY3, required to recruit ubiquitinated proteins to PML bodies in the nucleus (PubMed:24128730, PubMed:20168092). May regulate the activation of NFKB1 by TNF-alpha, nerve growth factor (NGF) and interleukin-1. May play a role in titin/TTN downstream signaling in muscle cells. May regulate signaling cascades through ubiquitination. Adapter that mediates the interaction between TRAF6 and CYLD (By similarity). May be involved in cell differentiation, apoptosis, immune response and regulation of K(+) channels. Involved in endosome organization by retaining vesicles in the perinuclear cloud: following ubiquitination by RNF26, attracts specific vesicle-associated adapters, forming a molecular bridge that restrains cognate vesicles in the perinuclear region and organizes the endosomal pathway for efficient cargo transport (PubMed:27368102). Promotes relocalization of 'Lys-63'-linked ubiquitinated TMEM173/STING to autophagosomes (PubMed:29496741). Acts as an activator of the NFE2L2/NRF2 pathway via interaction with KEAP1: interaction inactivates the BCR(KEAP1) complex, promoting nuclear accumulation of NFE2L2/NRF2 and subsequent expression of cytoprotective genes (PubMed:20452972, PubMed:28380357). Phosphorylated. May be phosphorylated by PRKCZ (By similarity). Phosphorylated in vitro by TTN (PubMed:15802564). Phosphorylation at Ser-403 by ULK1 is stimulated by SESN2 (PubMed:25040165). Phosphorylated at Ser-403 by TBK1, leading to promote relocalization of 'Lys-63'-linked ubiquitinated TMEM173/STING to autophagosomes (PubMed:29496741). Phosphorylation at Ser-349 by MTOR promotes interaction with KEAP1 and inactivation of the BCR(KEAP1) complex, promoting NFE2L2/NRF2 nuclear accumulation and expression of phase II detoxifying enzymes (By similarity).;Ubiquitinated by RNF26: ubiquitinated SQSTM1 attracts specific vesicle-associated adapters, forming a molecular bridge that restrains cognate vesicles in the perinuclear region and organizes the endosomal pathway for efficient cargo transport (PubMed:27368102). Deubiquitination by USP15 releases target vesicles for fast transport into the cell periphery (PubMed:27368102). Ubiquitinated by the BCR(KEAP1) complex at Lys-420, increasing SQSTM1 sequestering activity and promoting its degradation (PubMed:28380357). Ubiquitinated via 'Lys-29' and 'Lys-33'-linked polyubiquitination leading to xenophagic targeting of bacteria and inhibition of their replication (PubMed:27880896).;SQSTM1 is phosphorylated by PRKCZ (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Osteoclast differentiation;p75NTR recruits signalling complexes;NF-kB is activated and signals survival;NRIF signals cell death from the nucleus;Pink/Parkin Mediated Mitophagy;Interleukin-1 signaling PE1 5 +NX_Q13503 Mediator of RNA polymerase II transcription subunit 21 144 15564 4.29 0 Nucleoplasm;Nucleolus;Cytosol;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 21 family. PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 12 +NX_Q13505 Metaxin-1 466 51463 9.8 1 Membrane;Mitochondrion;Mitochondrion outer membrane NA Involved in transport of proteins into the mitochondrion. Essential for embryonic development (By similarity). Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. Belongs to the metaxin family. Mitochondrial protein import;Cristae formation PE1 1 +NX_Q13506 NGFI-A-binding protein 1 487 54401 6.24 0 Golgi apparatus;Nucleoplasm;Nucleus;Cell membrane NA Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2. NA Belongs to the NAB family. NA PE1 2 +NX_Q13507 Short transient receptor potential channel 3 836 96009 6.25 6 Membrane Spinocerebellar ataxia 41 Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C, and by inositol 1,4,5-triphosphate receptors (ITPR) with bound IP3. May also be activated by internal calcium store depletion. TRPC3 is phosphorylated by PRKCG (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC3 sub-subfamily. TRP channels;Effects of PIP2 hydrolysis;Role of second messengers in netrin-1 signaling;Elevation of cytosolic Ca2+ levels;MECP2 regulates neuronal receptors and channels PE1 4 +NX_Q13508 Ecto-ADP-ribosyltransferase 3 389 43923 5.71 0 Cell membrane NA NA O-glycosylated with core 1 or possibly core 8 glycans. Belongs to the Arg-specific ADP-ribosyltransferase family. Post-translational modification: synthesis of GPI-anchored proteins PE1 4 +NX_Q13509 Tubulin beta-3 chain 450 50433 4.83 0 Lamellipodium;Filopodium;Cytoskeleton Cortical dysplasia, complex, with other brain malformations 1;Fibrosis of extraocular muscles, congenital, 3A Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. TUBB3 plays a critical role in proper axon guidance and mantainance. Binding of NTN1/Netrin-1 to its receptor UNC5C might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion (PubMed:28483977). Plays a role in dorsal root ganglion axon projection towards the spinal cord (PubMed:28483977). Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.;Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).;Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).;TUBB3 is phosphorylated by GRK5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the tubulin family. Phagosome;Gap junction;Pathogenic Escherichia coli infection;Separation of Sister Chromatids;MHC class II antigen presentation;Intraflagellar transport;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Hedgehog 'off' state;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Post-chaperonin tubulin folding pathway;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 16 +NX_Q13510 Acid ceramidase 395 44660 7.52 0 Cytoplasm;Secreted;Nucleus;Lysosome Farber lipogranulomatosis;Spinal muscular atrophy with progressive myoclonic epilepsy May directly regulate steroidogenesis by binding the nuclear receptor NR5A1 and negatively regulating its transcriptional activity.;Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH (PubMed:10610716, PubMed:7744740, PubMed:15655246, PubMed:11451951). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:10610716). Has a higher catalytic efficiency towards C12-ceramides versus other ceramides (PubMed:7744740, PubMed:15655246). Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine (PubMed:12764132, PubMed:12815059). For the reverse synthetic reaction, the natural sphingosine D-erythro isomer is more efficiently utilized as a substrate compared to D-erythro-dihydrosphingosine and D-erythro-phytosphingosine, while the fatty acids with chain lengths of 12 or 14 carbons are the most efficiently used (PubMed:12764132). Has also an N-acylethanolamine hydrolase activity (PubMed:15655246). By regulating the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes (PubMed:17713573). Also indirectly regulates tumor necrosis factor/TNF-induced apoptosis (By similarity). By regulating the intracellular balance between ceramides and sphingosine, in adrenocortical cells, probably also acts as a regulator of steroidogenesis (PubMed:22261821). N-glycosylated.;Proteolytically cleaved into two chains alpha and beta that remain associated via a disulfide bond (PubMed:7744740, PubMed:11451951, PubMed:30525581, PubMed:29692406). Cleavage gives rise to a conformation change that activates the enzyme. The same catalytic Cys residue mediates the autoproteolytic cleavage and subsequent hydrolysis of lipid substrates (PubMed:30525581, PubMed:29692406). The beta chain may undergo an additional C-terminal processing (PubMed:12815059). Belongs to the acid ceramidase family. Lipid metabolism; sphingolipid metabolism.;Sphingolipid metabolism;Metabolic pathways;Lysosome;Glycosphingolipid metabolism;Neutrophil degranulation PE1 8 +NX_Q13515 Phakinin 415 45880 5.41 0 Cytosol;Cell cortex;Cytoskeleton;Cell membrane Cataract 12, multiple types Involved in stabilization of lens fiber cell cytoskeleton. NA Belongs to the intermediate filament family. NA PE1 3 +NX_Q13516 Oligodendrocyte transcription factor 2 323 32385 9.28 0 Cytoplasm;Nucleoplasm;Nucleus;Cell membrane NA Required for oligodendrocyte and motor neuron specification in the spinal cord, as well as for the development of somatic motor neurons in the hindbrain. Functions together with ZNF488 to promote oligodendrocyte differentiation. Cooperates with OLIG1 to establish the pMN domain of the embryonic neural tube. Antagonist of V2 interneuron and of NKX2-2-induced V3 interneuron development. NA NA NA PE1 21 +NX_Q13519 Prepronociceptin 176 20295 8.73 0 Secreted NA Orphanin FQ2: Has potent analgesic activity.;Nociceptin: Ligand of the opioid receptor-like receptor OPRL1. It may act as a transmitter in the brain by modulating nociceptive and locomotor behavior. May be involved in neuronal differentiation and development.;Nocistatin: Blocks nociceptin action in pain transmission by inhibiting nociceptin-induced hyperalgesia and allodynia. The N-terminal domain contains 6 conserved cysteines thought to be involved in disulfide bonding and/or processing.;Specific enzymatic cleavages at paired basic residues probably yield other active peptides besides nociceptin. Belongs to the opioid neuropeptide precursor family. G alpha (i) signalling events;Peptide ligand-binding receptors PE1 8 +NX_Q13520 Aquaporin-6 282 29370 8.88 6 Cytoplasmic vesicle membrane NA Forms a water-specific channel that participates in distinct physiological functions such as glomerular filtration, tubular endocytosis and acid-base metabolism. NA Belongs to the MIP/aquaporin (TC 1.A.8) family. Passive transport by Aquaporins PE2 12 +NX_Q13522 Protein phosphatase 1 regulatory subunit 1A 171 19011 5.9 0 NA NA Inhibitor of protein-phosphatase 1. This protein may be important in hormonal control of glycogen metabolism. Hormones that elevate intracellular cAMP increase I-1 activity in many tissues. I-1 activation may impose cAMP control over proteins that are not directly phosphorylated by PKA. Following a rise in intracellular calcium, I-1 is inactivated by calcineurin (or PP2B). Does not inhibit type-2 phosphatases. Phosphorylation of Thr-35 is required for activity. Belongs to the protein phosphatase inhibitor 1 family. Long-term potentiation PE1 12 +NX_Q13523 Serine/threonine-protein kinase PRP4 homolog 1007 116987 10.26 0 Nucleus speckle;Nucleus NA Has a role in pre-mRNA splicing. Phosphorylates SF2/ASF. Phosphorylated by Clk1. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. NA PE1 6 +NX_Q13526 Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 163 18243 8.95 0 Cytoplasm;Nucleus speckle;Nucleoplasm;Cytosol;Nucleus NA Peptidyl-prolyl cis/trans isomerase (PPIase) that binds to and isomerizes specific phosphorylated Ser/Thr-Pro (pSer/Thr-Pro) motifs. By inducing conformational changes in a subset of phosphorylated proteins, acts as a molecular switch in multiple cellular processes (PubMed:21497122, PubMed:22033920, Ref. 21). Displays a preference for acidic residues located N-terminally to the proline bond to be isomerized. Regulates mitosis presumably by interacting with NIMA and attenuating its mitosis-promoting activity. Down-regulates kinase activity of BTK (PubMed:16644721). Can transactivate multiple oncogenes and induce centrosome amplification, chromosome instability and cell transformation. Required for the efficient dephosphorylation and recycling of RAF1 after mitogen activation (PubMed:15664191). Binds and targets PML and BCL6 for degradation in a phosphorylation-dependent manner (PubMed:17828269). Acts as a regulator of JNK cascade by binding to phosphorylated FBXW7, disrupting FBXW7 dimerization and promoting FBXW7 autoubiquitination and degradation: degradation of FBXW7 leads to subsequent stabilization of JUN (PubMed:22608923). May facilitate the ubiquitination and proteasomal degradation of RBBP8/CtIP through CUL3/KLHL15 E3 ubiquitin-protein ligase complex, hence favors DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:23623683, PubMed:27561354). Phosphorylation at Ser-71 by DAPK1 results in inhibition of its catalytic activity, nuclear localization, and its ability to induce centrosome amplification, chromosome instability and cell transformation. NA RIG-I-like receptor signaling pathway;ISG15 antiviral mechanism;Negative regulators of DDX58/IFIH1 signaling;RHO GTPases Activate NADPH Oxidases;Regulation of TP53 Activity through Phosphorylation;PI5P Regulates TP53 Acetylation PE1 19 +NX_Q13530 Serine incorporator 3 473 52580 7.43 8 Perinuclear region;Cell membrane;Golgi apparatus membrane NA Restriction factor required to restrict infectivity of lentiviruses, such as HIV-1: acts by inhibiting an early step of viral infection. Impairs the penetration of the viral particle into the cytoplasm (PubMed:26416733, PubMed:26416734). N-glycosylated. Belongs to the TDE1 family. Serine biosynthesis PE1 20 +NX_Q13535 Serine/threonine-protein kinase ATR 2644 301367 7.17 0 Golgi apparatus;Chromosome;Nucleoplasm;PML body;Nucleus Seckel syndrome 1;Cutaneous telangiectasia and cancer syndrome, familial Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates BRCA1, CHEK1, MCM2, RAD17, RPA2, SMC1 and p53/TP53, which collectively inhibit DNA replication and mitosis and promote DNA repair, recombination and apoptosis. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at sites of DNA damage, thereby regulating DNA damage response mechanism. Required for FANCD2 ubiquitination. Critical for maintenance of fragile site stability and efficient regulation of centrosome duplication. Phosphorylated; autophosphorylates in vitro. Belongs to the PI3/PI4-kinase family. ATM subfamily. Fanconi anemia pathway;Cell cycle;p53 signaling pathway;HTLV-I infection;Regulation of HSF1-mediated heat shock response;Meiotic synapsis;Activation of ATR in response to replication stress;G2/M DNA damage checkpoint;HDR through Single Strand Annealing (SSA);Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Fanconi Anemia Pathway;TP53 Regulates Transcription of DNA Repair Genes;Regulation of TP53 Activity through Phosphorylation PE1 3 +NX_Q13536 Protein CROC-4 156 17231 6.39 0 Nucleus NA May play a role in FOS signaling pathways involved in development and remodeling of neurons. Promotes transcription of the FOS promoter. NA NA NA PE2 1 +NX_Q13541 Eukaryotic translation initiation factor 4E-binding protein 1 118 12580 5.32 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Repressor of translation initiation that regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation. Mediates the regulation of protein translation by hormones, growth factors and other stimuli that signal through the MAP kinase and mTORC1 pathways. Ubiquitinated: when eIF4E levels are low, hypophosphorylated form is ubiquitinated by the BCR(KLHL25) complex, leading to its degradation and serving as a homeostatic mechanism to maintain translation and prevent eIF4E inhibition when eIF4E levels are low. Not ubiquitinated when hyperphosphorylated (at Thr-37, Thr-46, Ser-65 and Thr-70) or associated with eIF4E.;Phosphorylated on serine and threonine residues in response to insulin, EGF and PDGF. Phosphorylation at Thr-37, Thr-46, Ser-65 and Thr-70, corresponding to the hyperphosphorylated form, is regulated by mTORC1 and abolishes binding to EIF4E.;EIF4EBP1 is phosphorylated by MAPK3 Belongs to the eIF4E-binding protein family. RNA transport;ErbB signaling pathway;mTOR signaling pathway;Insulin signaling pathway;Acute myeloid leukemia;mTORC1-mediated signalling;Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S PE1 8 +NX_Q13542 Eukaryotic translation initiation factor 4E-binding protein 2 120 12939 6.16 0 Nucleoplasm;Mitochondrion NA Repressor of translation initiation involved in synaptic plasticity, learning and memory formation (By similarity). Regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form of EIF4EBP2 competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation (PubMed:25533957). EIF4EBP2 is enriched in brain and acts as a regulator of synapse activity and neuronal stem cell renewal via its ability to repress translation initiation (By similarity). Mediates the regulation of protein translation by hormones, growth factors and other stimuli that signal through the MAP kinase and mTORC1 pathways (By similarity). Phosphorylation at Thr-37, Thr-46, Ser-65, Thr-70 and Ser-83 is mediated by MTOR and corresponds to the hyperphosphorylated form: it abolishes binding to EIF4E by inducing folding of intrinsically disordered regions (PubMed:24207126, PubMed:25533957). First phosphorylated at Thr-37 and Thr-46 by MTOR, inducing folding of region encompassing residues from Pro-18 to Arg-62 of into a four-stranded beta-domain that sequesters the helical YXXXXLPhi motif into a partly buried beta-strand, blocking accessibility to EIF4E. Protein phosphorylated at Thr-37 and Thr-46 is however unstable and subsequent phosphorylation at Ser-65, Thr-70 and Ser-83 is required to stabilize the fold, decreasing affinity for EIF4E by a factor of 4000 (PubMed:24207126, PubMed:25533957). Phosphorylated in response to insulin, EGF and PDGF.;Deamidated at Asn-99 and Asn-102 to aspartate (Asp) in brain. Deamidation promotes interaction with RPTOR, subsequent phosphorylation by mTORC1 and increased translation, leading to impair kinetics of excitatory synaptic transmission. Deamidation takes place during postnatal development, when the PI3K-Akt-mTOR signaling is reduced, suggesting it acts as a compensatory mechanism to promote translation despite attenuated PI3K-Akt-mTOR signaling in neuron development. Deamidation converts Asn residues into a mixture of Asp and isoaspartate; interactions with PCMT1 is required to prevent isoaspartate accumulation and convert isoaspartate to Asp. Belongs to the eIF4E-binding protein family. NA PE1 10 +NX_Q13546 Receptor-interacting serine/threonine-protein kinase 1 671 75931 5.92 0 Cytoplasm;Cytosol;Cell membrane Immunodeficiency 57 Serine-threonine kinase which transduces inflammatory and cell-death signals (programmed necrosis) following death receptors ligation, activation of pathogen recognition receptors (PRRs), and DNA damage (PubMed:11101870, PubMed:17389591, PubMed:19524512, PubMed:19524513). Upon activation of TNFR1 by the TNF-alpha family cytokines, TRADD and TRAF2 are recruited to the receptor (PubMed:11101870, PubMed:17389591, PubMed:19524512, PubMed:19524513). Phosphorylates DAB2IP at 'Ser-728' in a TNF-alpha-dependent manner, and thereby activates the MAP3K5-JNK apoptotic cascade (PubMed:17389591). Ubiquitination by TRAF2 via 'Lys-63'-link chains acts as a critical enhancer of communication with downstream signal transducers in the mitogen-activated protein kinase pathway and the NF-kappa-B pathway, which in turn mediate downstream events including the activation of genes encoding inflammatory molecules (PubMed:15258597). Polyubiquitinated protein binds to IKBKG/NEMO, the regulatory subunit of the IKK complex, a critical event for NF-kappa-B activation. Interaction with other cellular RHIM-containing adapters initiates gene activation and cell death (PubMed:15258597). RIPK1 and RIPK3 association, in particular, forms a necrosis-inducing complex (PubMed:19524513, PubMed:19524512). Ubiquitinated by 'Lys-11'-, 'Lys-48'-, 'Lys-63'- and linear-linked type ubiquitin (PubMed:15258597, PubMed:16603398, PubMed:18450452, PubMed:21455173, PubMed:21931591, PubMed:29883609, Ref.33). Polyubiquitination with 'Lys-63'-linked chains by TRAF2 induces association with the IKK complex (PubMed:15258597). Deubiquitination of 'Lys-63'-linked chains and polyubiquitination with 'Lys-48'-linked chains by TNFAIP3 leads to RIPK1 proteasomal degradation and consequently down-regulates TNF-alpha-induced NFkappa-B signaling (PubMed:15258597). 'Lys-48'-linked polyubiquitination by RFFL or RNF34 also promotes proteasomal degradation and negatively regulates TNF-alpha-induced NF-kappa-B signaling (PubMed:18450452, Ref.33). Linear polyubiquitinated; the head-to-tail linear polyubiquitination ('Met-1'-linked) is mediated by the LUBAC complex and decreases protein kinase activity (PubMed:21455173). Deubiquitination of linear polyubiquitin by CYLD promotes the kinase activity (By similarity). Also ubiquitinated with 'Lys-11'-linked chains (PubMed:21455173). Polyubiquitinated with 'Lys-48' and 'Lys-63'-linked chains by BIRC2/c-IAP1 and BIRC3/c-IAP2, leading to activation of NF-kappa-B (PubMed:21931591). Ubiquitinated with 'Lys-63'-linked chains by PELI1 (PubMed:29883609).;RIPK1 and RIPK3 undergo reciprocal auto- and trans-phosphorylation (PubMed:18408713, PubMed:19524513). Phosphorylation of Ser-161 by RIPK3 is necessary for the formation of the necroptosis-inducing complex (PubMed:18408713).;Proteolytically cleaved by caspase-8 during TNF-induced apoptosis (PubMed:10521396). Cleavage abolishes NF-kappa-B activation and enhances pro-apoptotic signaling through the TRADD-FADD interaction (PubMed:10521396). Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Apoptosis;Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Hepatitis C;TRP channels;RIP-mediated NFkB activation via ZBP1;TNFR1-induced proapoptotic signaling;Caspase activation via Death Receptors in the presence of ligand;TRIF-mediated programmed cell death;IKK complex recruitment mediated by RIP1;NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10;Regulation by c-FLIP;RIPK1-mediated regulated necrosis;CASP8 activity is inhibited;Dimerization of procaspase-8;TNF signaling;Regulation of necroptotic cell death;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;Ub-specific processing proteases;Ovarian tumor domain proteases;TICAM1, RIP1-mediated IKK complex recruitment;TLR3-mediated TICAM1-dependent programmed cell death PE1 6 +NX_Q13547 Histone deacetylase 1 482 55103 5.31 0 Nucleoplasm;Nucleus NA Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Deacetylates SP proteins, SP1 and SP3, and regulates their function. Component of the BRG1-RB1-HDAC1 complex, which negatively regulates the CREST-mediated transcription in resting neurons. Upon calcium stimulation, HDAC1 is released from the complex and CREBBP is recruited, which facilitates transcriptional activation. Deacetylates TSHZ3 and regulates its transcriptional repressor activity. Deacetylates 'Lys-310' in RELA and thereby inhibits the transcriptional activity of NF-kappa-B. Deacetylates NR1D2 and abrogates the effect of KAT5-mediated relieving of NR1D2 transcription repression activity. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. Involved in CIART-mediated transcriptional repression of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1 heterodimer. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex or CRY1 through histone deacetylation. Ubiquitinated by CHFR, leading to its degradation by the proteasome. Ubiquitinated by KCTD11, leading to proteasomal degradation.;Phosphorylation on Ser-421 and Ser-423 promotes enzymatic activity and interactions with NuRD and SIN3 complexes. Phosphorylated by CDK5.;Sumoylated on Lys-444 and Lys-476; which promotes enzymatic activity. Desumoylated by SENP1. Belongs to the histone deacetylase family. HD type 1 subfamily. Cell cycle;Notch signaling pathway;Huntington's disease;Pathways in cancer;Chronic myeloid leukemia;Factors involved in megakaryocyte development and platelet production;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;Downregulation of SMAD2/3:SMAD4 transcriptional activity;Formation of the beta-catenin:TCF transactivating complex;HDACs deacetylate histones;G0 and Early G1;G1/S-Specific Transcription;Notch-HLH transcription pathway;Deactivation of the beta-catenin transactivating complex;Repression of WNT target genes;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;p75NTR negatively regulates cell cycle via SC1;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Regulation of TP53 Activity through Acetylation;SUMOylation of chromatin organization proteins;Transcription of E2F targets under negative control by DREAM complex;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Regulation of PTEN gene transcription;Estrogen-dependent gene expression;Regulation of MECP2 expression and activity;MECP2 regulates neuronal receptors and channels;MECP2 regulates transcription of neuronal ligands;Loss of MECP2 binding ability to 5mC-DNA;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 1 +NX_Q13554 Calcium/calmodulin-dependent protein kinase type II subunit beta 666 72678 6.87 0 Cytoskeleton;Centrosome;Synapse;Sarcoplasmic reticulum membrane Mental retardation, autosomal dominant 54 Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in dendritic spine and synapse formation, neuronal plasticity and regulation of sarcoplasmic reticulum Ca(2+) transport in skeletal muscle. In neurons, plays an essential structural role in the reorganization of the actin cytoskeleton during plasticity by binding and bundling actin filaments in a kinase-independent manner. This structural function is required for correct targeting of CaMK2A, which acts downstream of NMDAR to promote dendritic spine and synapse formation and maintain synaptic plasticity which enables long-term potentiation (LTP) and hippocampus-dependent learning. In developing hippocampal neurons, promotes arborization of the dendritic tree and in mature neurons, promotes dendritic remodeling. Also regulates the migration of developing neurons (PubMed:29100089). Participates in the modulation of skeletal muscle function in response to exercise. In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of triadin, a ryanodine receptor-coupling factor, and phospholamban (PLN/PLB), an endogenous inhibitor of SERCA2A/ATP2A2. Autophosphorylation of Thr-287 following activation by Ca(2+)/calmodulin. Phosphorylation of Thr-287 locks the kinase into an activated state. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. ErbB signaling pathway;Calcium signaling pathway;Oocyte meiosis;Wnt signaling pathway;Long-term potentiation;Neurotrophin signaling pathway;Cholinergic synapse;Dopaminergic synapse;Olfactory transduction;GnRH signaling pathway;Melanogenesis;Gastric acid secretion;Tuberculosis;Glioma;RAF/MAP kinase cascade;Ion transport by P-type ATPases;Interferon gamma signaling;Unblocking of NMDA receptors, glutamate binding and activation;CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde;Ras activation upon Ca2+ influx through NMDA receptor;HSF1-dependent transactivation;RAF activation;Trafficking of AMPA receptors;CaMK IV-mediated phosphorylation of CREB;Phase 0 - rapid depolarisation;Ion homeostasis;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;Regulation of MECP2 expression and activity;Assembly and cell surface presentation of NMDA receptors;Negative regulation of NMDA receptor-mediated neuronal transmission;Long-term potentiation PE1 7 +NX_Q13555 Calcium/calmodulin-dependent protein kinase type II subunit gamma 558 62607 7.9 0 Sarcoplasmic reticulum membrane NA Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in sarcoplasmic reticulum Ca(2+) transport in skeletal muscle and may function in dendritic spine and synapse formation and neuronal plasticity. In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of the ryanodine receptor-coupling factor triadin. In neurons, may participate in the promotion of dendritic spine and synapse formation and maintenance of synaptic plasticity which enables long-term potentiation (LTP) and hippocampus-dependent learning. Autophosphorylation of Thr-287 following activation by Ca(2+)/calmodulin. Phosphorylation of Thr-287 locks the kinase into an activated state. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. ErbB signaling pathway;Calcium signaling pathway;Oocyte meiosis;Wnt signaling pathway;Long-term potentiation;Neurotrophin signaling pathway;Cholinergic synapse;Dopaminergic synapse;Olfactory transduction;GnRH signaling pathway;Melanogenesis;Gastric acid secretion;Tuberculosis;Glioma;RAF/MAP kinase cascade;Ion transport by P-type ATPases;Interferon gamma signaling;Unblocking of NMDA receptors, glutamate binding and activation;CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde;Ras activation upon Ca2+ influx through NMDA receptor;HSF1-dependent transactivation;RAF activation;Trafficking of AMPA receptors;CaMK IV-mediated phosphorylation of CREB;Phase 0 - rapid depolarisation;Ion homeostasis;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;Regulation of MECP2 expression and activity;Assembly and cell surface presentation of NMDA receptors;Negative regulation of NMDA receptor-mediated neuronal transmission;Long-term potentiation PE1 10 +NX_Q13557 Calcium/calmodulin-dependent protein kinase type II subunit delta 499 56369 6.81 0 Sarcolemma;Sarcoplasmic reticulum membrane NA Calcium/calmodulin-dependent protein kinase involved in the regulation of Ca(2+) homeostatis and excitation-contraction coupling (ECC) in heart by targeting ion channels, transporters and accessory proteins involved in Ca(2+) influx into the myocyte, Ca(2+) release from the sarcoplasmic reticulum (SR), SR Ca(2+) uptake and Na(+) and K(+) channel transport. Targets also transcription factors and signaling molecules to regulate heart function. In its activated form, is involved in the pathogenesis of dilated cardiomyopathy and heart failure. Contributes to cardiac decompensation and heart failure by regulating SR Ca(2+) release via direct phosphorylation of RYR2 Ca(2+) channel on 'Ser-2808'. In the nucleus, phosphorylates the MEF2 repressor HDAC4, promoting its nuclear export and binding to 14-3-3 protein, and expression of MEF2 and genes involved in the hypertrophic program. Is essential for left ventricular remodeling responses to myocardial infarction. In pathological myocardial remodeling acts downstream of the beta adrenergic receptor signaling cascade to regulate key proteins involved in ECC. Regulates Ca(2+) influx to myocytes by binding and phosphorylating the L-type Ca(2+) channel subunit beta-2 CACNB2. In addition to Ca(2+) channels, can target and regulate the cardiac sarcolemmal Na(+) channel Nav1.5/SCN5A and the K+ channel Kv4.3/KCND3, which contribute to arrhythmogenesis in heart failure. Phosphorylates phospholamban (PLN/PLB), an endogenous inhibitor of SERCA2A/ATP2A2, contributing to the enhancement of SR Ca(2+) uptake that may be important in frequency-dependent acceleration of relaxation (FDAR) and maintenance of contractile function during acidosis. May participate in the modulation of skeletal muscle function in response to exercise, by regulating SR Ca(2+) transport through phosphorylation of PLN/PLB and triadin, a ryanodine receptor-coupling factor. Autophosphorylation of Thr-287 following activation by Ca(2+)/calmodulin. Phosphorylation of Thr-287 locks the kinase into an activated state. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. ErbB signaling pathway;Calcium signaling pathway;Oocyte meiosis;Wnt signaling pathway;Long-term potentiation;Neurotrophin signaling pathway;Cholinergic synapse;Dopaminergic synapse;Olfactory transduction;GnRH signaling pathway;Melanogenesis;Gastric acid secretion;Tuberculosis;Glioma;RAF/MAP kinase cascade;Ion transport by P-type ATPases;Interferon gamma signaling;Unblocking of NMDA receptors, glutamate binding and activation;Ras activation upon Ca2+ influx through NMDA receptor;HSF1-dependent transactivation;RAF activation;Trafficking of AMPA receptors;CaMK IV-mediated phosphorylation of CREB;Phase 0 - rapid depolarisation;Ion homeostasis;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;Regulation of MECP2 expression and activity;Assembly and cell surface presentation of NMDA receptors;Negative regulation of NMDA receptor-mediated neuronal transmission;Long-term potentiation PE1 4 +NX_Q13561 Dynactin subunit 2 401 44231 5.1 0 Membrane;Endosome;Centrosome NA Modulates cytoplasmic dynein binding to an organelle, and plays a role in prometaphase chromosome alignment and spindle organization during mitosis. Involved in anchoring microtubules to centrosomes. May play a role in synapse formation during brain development. NA Belongs to the dynactin subunit 2 family. Vasopressin-regulated water reabsorption;Huntington's disease;Anchoring of the basal body to the plasma membrane;MHC class II antigen presentation;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;AURKA Activation by TPX2;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 12 +NX_Q13562 Neurogenic differentiation factor 1 356 39920 5.2 0 Cytoplasm;Nucleus Maturity-onset diabetes of the young 6;Diabetes mellitus, non-insulin-dependent Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity). Phosphorylated. In islet cells, phosphorylated on Ser-274 upon glucose stimulation; which may be required for nuclear localization. In activated neurons, phosphorylated on Ser-335; which promotes dendritic growth. Phosphorylated by MAPK1; phosphorylation regulates heterodimerization and DNA-binding activities. Phosphorylation on Ser-266 and Ser-274 increases transactivation on the insulin promoter in glucose-stimulated insulinoma cells (By similarity). NA Maturity onset diabetes of the young;Regulation of gene expression in beta cells;Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells PE1 2 +NX_Q13563 Polycystin-2 968 109691 5.49 6 Golgi apparatus;Endoplasmic reticulum membrane;Cell membrane;Basolateral cell membrane;Endoplasmic reticulum;Cytoplasmic vesicle membrane;Cilium membrane Polycystic kidney disease 2 with or without polycystic liver disease Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281). Can also form a functional, homotetrameric ion channel (PubMed:29899465). Functions as a cation channel involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (PubMed:18695040). Functions as outward-rectifying K(+) channel, but is also permeable to Ca(2+), and to a much lesser degree also to Na(+) (PubMed:11854751, PubMed:15692563, PubMed:27071085, PubMed:27991905). May contribute to the release of Ca(2+) stores from the endoplasmic reticulum (PubMed:11854751, PubMed:20881056). Together with TRPV4, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). PKD1 and PKD2 may function through a common signaling pathway that is necessary to maintain the normal, differentiated state of renal tubule cells. Acts as a regulator of cilium length, together with PKD1. The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling. Also involved in left-right axis specification via its role in sensing nodal flow; forms a complex with PKD1L1 in cilia to facilitate flow detection in left-right patterning. Detection of asymmetric nodal flow gives rise to a Ca(2+) signal that is required for normal, asymmetric expression of genes involved in the specification of body left-right laterality (By similarity). N-glycosylated. The four subunits in a tetramer probably differ in the extent of glycosylation; simultaneous glycosylation of all experimentally validated sites would probably create steric hindrance. Thus, glycosylation at Asn-305 is not compatible with glycosylation at Asn-328; only one of these two residues is glycosylated at a given time.;Phosphorylated. Phosphorylation is important for protein function; a mutant that lacks the N-terminal phosphorylation sites cannot complement a zebrafish pkd2-deficient mutant (PubMed:16551655). PKD-mediated phosphorylation at the C-terminus regulates its function in the release of Ca(2+) stores from the endoplasmic reticulum (PubMed:20881056). PKA-mediated phosphorylation at a C-terminal site strongly increases the open probability of the channel, but does not increase single channel conductance (PubMed:26269590). Belongs to the polycystin family. VxPx cargo-targeting to cilium PE1 4 +NX_Q13564 NEDD8-activating enzyme E1 regulatory subunit 534 60246 5.25 0 Cytoplasm;Cell membrane;Nucleoplasm;Centrosome;Cytoskeleton NA Regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Necessary for cell cycle progression through the S-M checkpoint. Overexpression of NAE1 causes apoptosis through deregulation of NEDD8 conjugation. Ubiquitinated by TRIP12, leading to its degradation by the proteasome. Belongs to the ubiquitin-activating E1 family. ULA1 subfamily. Protein modification; protein neddylation.;Alzheimer's disease;Neddylation PE1 16 +NX_Q13568 Interferon regulatory factor 5 498 56044 5.54 0 Cytoplasm;Nucleus Inflammatory bowel disease 14;Systemic lupus erythematosus 10;Rheumatoid arthritis Transcription factor involved in the induction of interferons IFNA and INFB and inflammatory cytokines upon virus infection. Activated by TLR7 or TLR8 signaling. Phosphorylation of serine and threonine residues in a C-terminal autoinhibitory region, stimulates dimerization, transport into the nucleus, assembly with the coactivator CBP/p300 and initiation of transcription.;'Lys-63'-linked polyubiquitination by TRAF6 is required for activation.;IRF5 is phosphorylated by TBK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the IRF family. Toll-like receptor signaling pathway;Interferon gamma signaling;Interferon alpha/beta signaling PE1 7 +NX_Q13569 G/T mismatch-specific thymine DNA glycosylase 410 46053 6.36 0 Nucleoplasm;Nucleus NA DNA glycosylase that plays a key role in active DNA demethylation: specifically recognizes and binds 5-formylcytosine (5fC) and 5-carboxylcytosine (5caC) in the context of CpG sites and mediates their excision through base-excision repair (BER) to install an unmethylated cytosine. Cannot remove 5-hydroxymethylcytosine (5hmC). According to an alternative model, involved in DNA demethylation by mediating DNA glycolase activity toward 5-hydroxymethyluracil (5hmU) produced by deamination of 5hmC. Also involved in DNA repair by acting as a thymine-DNA glycosylase that mediates correction of G/T mispairs to G/C pairs: in the DNA of higher eukaryotes, hydrolytic deamination of 5-methylcytosine to thymine leads to the formation of G/T mismatches. Its role in the repair of canonical base damage is however minor compared to its role in DNA demethylation. It is capable of hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of the DNA and a mispaired thymine. In addition to the G/T, it can remove thymine also from C/T and T/T mispairs in the order G/T >> C/T > T/T. It has no detectable activity on apyrimidinic sites and does not catalyze the removal of thymine from A/T pairs or from single-stranded DNA. It can also remove uracil and 5-bromouracil from mispairs with guanine. Sumoylation on Lys-330 by either SUMO1 or SUMO2 induces dissociation of the product DNA. Belongs to the uracil-DNA glycosylase (UDG) superfamily. TDG/mug family. Base excision repair;SUMOylation of DNA damage response and repair proteins;Displacement of DNA glycosylase by APEX1;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;TET1,2,3 and TDG demethylate DNA PE1 12 +NX_Q13571 Lysosomal-associated transmembrane protein 5 262 29937 8.95 5 Cytosol;Lysosome membrane NA May have a special functional role during embryogenesis and in adult hematopoietic cells. NA Belongs to the LAPTM4/LAPTM5 transporter family. Lysosome PE1 1 +NX_Q13572 Inositol-tetrakisphosphate 1-kinase 414 45621 5.78 0 Mitochondrion NA Kinase that can phosphorylate various inositol polyphosphate such as Ins(3,4,5,6)P4 or Ins(1,3,4)P3. Phosphorylates Ins(3,4,5,6)P4 at position 1 to form Ins(1,3,4,5,6)P5. This reaction is thought to have regulatory importance, since Ins(3,4,5,6)P4 is an inhibitor of plasma membrane Ca(2+)-activated Cl(-) channels, while Ins(1,3,4,5,6)P5 is not. Also phosphorylates Ins(1,3,4)P3 on O-5 and O-6 to form Ins(1,3,4,6)P4, an essential molecule in the hexakisphosphate (InsP6) pathway. Also acts as an inositol polyphosphate phosphatase that dephosphorylate Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 to Ins(1,3,4)P3, and Ins(1,3,4,5,6)P5 to Ins(3,4,5,6)P4. May also act as an isomerase that interconverts the inositol tetrakisphosphate isomers Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 in the presence of ADP and magnesium. Probably acts as the rate-limiting enzyme of the InsP6 pathway. Modifies TNF-alpha-induced apoptosis by interfering with the activation of TNFRSF1A-associated death domain (PubMed:11909533, PubMed:12925536, PubMed:17616525). Plays an important role in MLKL-mediated necroptosis. Produces highly phosphorylated inositol phosphates such as inositolhexakisphosphate (InsP6) which bind to MLKL mediating the release of an N-terminal auto-inhibitory region leading to its activation. Essential for activated phospho-MLKL to oligomerize and localize to the cell membrane during necroptosis (PubMed:17616525). Acetylation by EP300 and CREBBP destabilizes ITPK1, and down-regulates enzymatic activity. Deacetylated by SIRT1. Belongs to the ITPK1 family. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Factors involved in megakaryocyte development and platelet production;Synthesis of IP3 and IP4 in the cytosol;Synthesis of pyrophosphates in the cytosol PE1 14 +NX_Q13573 SNW domain-containing protein 1 536 61494 9.52 0 Nucleoplasm;Cytosol;Nucleus NA (Microbial infection) Is recruited by HIV-1 Tat to Tat:P-TEFb:TAR RNA complexes and is involved in Tat transcription by recruitment of MYC, MEN1 and TRRAP to the HIV promoter.;(Microbial infection) Proposed to be involved in transcriptional activation by EBV EBNA2 of CBF-1/RBPJ-repressed promoters.;Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). Is required in the specific splicing of CDKN1A pre-mRNA; the function probably involves the recruitment of U2AF2 to the mRNA. Is proposed to recruit PPIL1 to the spliceosome. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. Involved in transcriptional regulation. Modulates TGF-beta-mediated transcription via association with SMAD proteins, MYOD1-mediated transcription via association with PABPN1, RB1-mediated transcriptional repression, and retinoid-X receptor (RXR)- and vitamin D receptor (VDR)-dependent gene transcription in a cell line-specific manner probably involving coactivators NCOA1 and GRIP1. Is involved in NOTCH1-mediated transcriptional activation. Binds to multimerized forms of Notch intracellular domain (NICD) and is proposed to recruit transcriptional coactivators such as MAML1 to form an intermediate preactivation complex which associates with DNA-bound CBF-1/RBPJ to form a transcriptional activation complex by releasing SNW1 and redundant NOTCH1 NICD. NA Belongs to the SNW family. Spliceosome;Notch signaling pathway;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;mRNA Splicing - Major Pathway;Pre-NOTCH Transcription and Translation;Notch-HLH transcription pathway;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells;RUNX3 regulates NOTCH signaling;NOTCH3 Intracellular Domain Regulates Transcription;NOTCH4 Intracellular Domain Regulates Transcription PE1 14 +NX_Q13574 Diacylglycerol kinase zeta 1117 124128 9.24 0 Cytoplasm;Nucleus speckle;Cell membrane;Lamellipodium;Nucleus NA Displays a strong preference for 1,2-diacylglycerols over 1,3-diacylglycerols, but lacks substrate specificity among molecular species of long chain diacylglycerols.;But not isoform 1 regulates RASGRP1 activity (PubMed:11257115). Positively regulates insulin-induced translocation of SLC2A4 to the cell membrane in adipocytes (By similarity). Activates PIP5K1A activity via generation of phosphatidic acid (PubMed:15157668). Phosphorylation of the MARCKS homology domain by PKC reduces nuclear accumulation of DGK-zeta. Belongs to the eukaryotic diacylglycerol kinase family. Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Effects of PIP2 hydrolysis PE1 11 +NX_Q13576 Ras GTPase-activating-like protein IQGAP2 1575 180578 5.47 0 Cytoplasmic vesicle;Cell membrane NA Binds to activated CDC42 and RAC1 but does not seem to stimulate their GTPase activity. Associates with calmodulin. NA NA Regulation of actin cytoskeleton;RHO GTPases activate IQGAPs;Neutrophil degranulation PE1 5 +NX_Q13585 Melatonin-related receptor 617 67369 7.64 7 Nucleoplasm;Cell membrane NA Does not bind melatonin. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction PE1 X +NX_Q13586 Stromal interaction molecule 1 685 77423 6.19 1 Endoplasmic reticulum membrane;Cell membrane;Sarcoplasmic reticulum;Endoplasmic reticulum;Cytoskeleton Myopathy, tubular aggregate, 1;Stormorken syndrome;Immunodeficiency 10 Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores (PubMed:15866891, PubMed:16005298, PubMed:16208375, PubMed:16537481, PubMed:16733527, PubMed:16766533, PubMed:16807233, PubMed:18854159, PubMed:19249086, PubMed:22464749, PubMed:24069340, PubMed:24351972, PubMed:24591628, PubMed:26322679, PubMed:25326555, PubMed:28219928). Acts as Ca(2+) sensor in the endoplasmic reticulum via its EF-hand domain. Upon Ca(2+) depletion, translocates from the endoplasmic reticulum to the plasma membrane where it activates the Ca(2+) release-activated Ca(2+) (CRAC) channel subunit ORAI1 (PubMed:16208375, PubMed:16537481). Involved in enamel formation (PubMed:24621671). Activated following interaction with STIMATE, leading to promote STIM1 conformational switch (PubMed:26322679). Glycosylation is required for cell surface expression.;Phosphorylated predominantly on Ser residues. NA Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Elevation of cytosolic Ca2+ levels;Ion homeostasis PE1 11 +NX_Q13588 GRB2-related adapter protein 217 25337 6.54 0 Membrane;Synapse Deafness, autosomal recessive, 114 Couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. Plays a role in the inner ear and in hearing (PubMed:30610177). NA Belongs to the GRB2/sem-5/DRK family. Signaling by SCF-KIT PE1 17 +NX_Q13591 Semaphorin-5A 1074 120615 7.03 1 Membrane NA Bifunctional axonal guidance cue regulated by sulfated proteoglycans; attractive effects result from interactions with heparan sulfate proteoglycans (HSPGs), while the inhibitory effects depend on interactions with chondroitin sulfate proteoglycans (CSPGs) (By similarity). Ligand for receptor PLXNB3. In glioma cells, SEMA5A stimulation of PLXNB3 results in the disassembly of F-actin stress fibers, disruption of focal adhesions and cellular collapse as well as inhibition of cell migration and invasion through ARHGDIA-mediated inactivation of RAC1. May promote angiogenesis by increasing endothelial cell proliferation and migration and inhibiting apoptosis. NA Belongs to the semaphorin family. Axon guidance;O-glycosylation of TSR domain-containing proteins;Other semaphorin interactions;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 5 +NX_Q13595 Transformer-2 protein homolog alpha 282 32689 11.27 0 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Nucleolus NA Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing. Phosphorylated in the RS domains. Belongs to the splicing factor SR family. Spliceosome PE1 7 +NX_Q13596 Sorting nexin-1 522 59070 5.08 0 Endosome membrane;trans-Golgi network membrane;Endosome;Lamellipodium;Lysosome;Early endosome membrane NA Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:12198132). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC) (Probable). Can sense membrane curvature and has in vitro vesicle-to-membrane remodeling activity (PubMed:19816406, PubMed:23085988). Involved in retrograde endosome-to-TGN transport of lysosomal enzyme receptors (IGF2R, M6PR and SORT1) and Shiginella dysenteria toxin stxB. Plays a role in targeting ligand-activated EGFR to the lysosomes for degradation after endocytosis from the cell surface and release from the Golgi (PubMed:12198132, PubMed:15498486, PubMed:17550970, PubMed:17101778, PubMed:18088323, PubMed:21040701). Involvement in retromer-independent endocytic trafficking of P2RY1 and lysosomal degradation of protease-activated receptor-1/F2R (PubMed:16407403, PubMed:20070609). Promotes KALRN- and RHOG-dependent but retromer-independent membrane remodeling such as lamellipodium formation; the function is dependent on GEF activity of KALRN (PubMed:20604901). Required for endocytosis of DRD5 upon agonist stimulation but not for basal receptor trafficking (PubMed:23152498). NA Belongs to the sorting nexin family. NA PE1 15 +NX_Q13601 KRR1 small subunit processome component homolog 381 43665 9.78 0 Nucleoplasm;Nucleus;Cytoplasm;Nucleolus NA Required for 40S ribosome biogenesis. Involved in nucleolar processing of pre-18S ribosomal RNA and ribosome assembly (By similarity). NA Belongs to the KRR1 family. rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 12 +NX_Q13606 Olfactory receptor 5I1 314 36049 8.25 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q13607 Olfactory receptor 2F1 317 35350 8.65 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 7 +NX_Q13608 Peroxisome assembly factor 2 980 104061 5.96 0 Cytoplasm;Photoreceptor outer segment;Peroxisome membrane;Nucleoplasm;Cytoplasmic vesicle;Nucleus Peroxisome biogenesis disorder 4A;Peroxisome biogenesis disorder complementation group 4;Heimler syndrome 2;Peroxisome biogenesis disorder 4B Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. NA Belongs to the AAA ATPase family. Peroxisome;Peroxisomal protein import PE1 6 +NX_Q13609 Deoxyribonuclease gamma 305 35504 9.35 0 Golgi apparatus;Endoplasmic reticulum;Secreted;Nucleus Systemic lupus erythematosus 16 Has DNA hydrolytic activity. Is capable of both single- and double-stranded DNA cleavage, producing DNA fragments with 3'-OH ends (By similarity). Can cleave chromatin to nucleosomal units and cleaves nucleosomal and liposome-coated DNA (PubMed:9070308, PubMed:9714828, PubMed:14646506, PubMed:10807908, PubMed:27293190). Acts in internucleosomal DNA fragmentation (INDF) during apoptosis and necrosis (PubMed:23229555, PubMed:24312463). The role in apoptosis includes myogenic and neuronal differentiation, and BCR-mediated clonal deletion of self-reactive B cells (By similarity). Is active on chromatin in apoptotic cell-derived membrane-coated microparticles and thus suppresses anti-DNA autoimmunity (PubMed:27293190). Together with DNASE1, plays a key role in degrading neutrophil extracellular traps (NETs) (By similarity). NETs are mainly composed of DNA fibers and are released by neutrophils to bind pathogens during inflammation (By similarity). Degradation of intravascular NETs by DNASE1 and DNASE1L3 is required to prevent formation of clots that obstruct blood vessels and cause organ damage following inflammation (By similarity). Poly-ADP-ribosylated by PARP1. ADP-ribosylation negatively regulates enzymatic activity during apoptosis. Belongs to the DNase I family. NA PE1 3 +NX_Q13610 Periodic tryptophan protein 1 homolog 501 55828 4.6 0 Golgi apparatus;Nucleus;Nucleolus;Chromosome NA Chromatin-associated factor that regulates transcription (PubMed:29065309). Regulates Pol I-mediated rRNA biogenesis and, probably, Pol III-mediated transcription (PubMed:29065309). Regulates the epigenetic status of rDNA (PubMed:29065309). NA Belongs to the WD repeat PWP1 family. NA PE1 12 +NX_Q13613 Myotubularin-related protein 1 665 74678 6.69 0 Cytoplasm;Centrosome;Cell membrane NA Lipid phosphatase that has high specificity for phosphatidylinositol 3-phosphate and has no activity with phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:11733541, PubMed:27018598). Activity with phosphatidylinositol (3,5)-bisphosphate is controversial; it has been shown by PubMed:27018598, while PubMed:11733541 find no activity with this substrate. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Fructose and mannose metabolism;Synthesis of PIPs at the plasma membrane PE1 X +NX_Q13614 Myotubularin-related protein 2 643 73381 7.02 0 Cytoplasm;Endosome membrane;Early endosome membrane;Cytoplasmic vesicle;Axon;Perinuclear region Charcot-Marie-Tooth disease 4B1 Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate (PubMed:11733541, PubMed:12668758, PubMed:21372139, PubMed:14690594). Binds phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (By similarity). Stabilizes SBF2/MTMR13 at the membranes (By similarity). Specifically in peripheral nerves, stabilizes SBF2/MTMR13 protein (By similarity). Phosphorylation at Ser-58 decreases MTMR2 localization to endocytic vesicular structures. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Fructose and mannose metabolism;Synthesis of PIPs at the ER membrane;Synthesis of PIPs at the plasma membrane;Synthesis of PIPs at the early endosome membrane;Synthesis of PIPs at the late endosome membrane PE1 11 +NX_Q13615 Myotubularin-related protein 3 1198 133619 5.51 0 Membrane;Cytoplasm;Cytosol;Nucleoplasm NA Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. May also dephosphorylate proteins phosphorylated on Ser, Thr, and Tyr residues (PubMed:10733931). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Macroautophagy;Synthesis of PIPs at the plasma membrane PE1 22 +NX_Q13616 Cullin-1 776 89679 8.19 0 Cytoplasm;Nucleoplasm;Nucleolus NA Core component of multiple cullin-RING-based SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. SCF complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins (PubMed:27565346). In the SCF complex, serves as a rigid scaffold that organizes the SKP1-F-box protein and RBX1 subunits. May contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and exchange of the substrate recognition component is mediated by TIP120A/CAND1. The functional specificity of the SCF complex depends on the F-box protein as substrate recognition component. SCF(BTRC) and SCF(FBXW11) direct ubiquitination of CTNNB1 and participate in Wnt signaling. SCF(FBXW11) directs ubiquitination of phosphorylated NFKBIA. SCF(BTRC) directs ubiquitination of NFKBIB, NFKBIE, ATF4, SMAD3, SMAD4, CDC25A, FBXO5 and probably NFKB2. SCF(BTRC) and/or SCF(FBXW11) direct ubiquitination of CEP68 (PubMed:25704143, PubMed:25503564). SCF(SKP2) directs ubiquitination of phosphorylated CDKN1B/p27kip and is involved in regulation of G1/S transition. SCF(SKP2) directs ubiquitination of ORC1, CDT1, RBL2, ELF4, CDKN1A, RAG2, FOXO1A, and probably MYC and TAL1. SCF(FBXW7) directs ubiquitination of CCNE1, NOTCH1 released notch intracellular domain (NICD), and probably PSEN1. SCF(FBXW2) directs ubiquitination of GCM1. SCF(FBXO32) directs ubiquitination of MYOD1. SCF(FBXO7) directs ubiquitination of BIRC2 and DLGAP5. SCF(FBXO33) directs ubiquitination of YBX1. SCF(FBXO1) directs ubiquitination of BCL6 and DTL but does not seem to direct ubiquitination of TP53. SCF(BTRC) mediates the ubiquitination of NFKBIA at 'Lys-21' and 'Lys-22'; the degradation frees the associated NFKB1-RELA dimer to translocate into the nucleus and to activate transcription. SCF(CCNF) directs ubiquitination of CCP110. SCF(FBXL3) and SCF(FBXL21) direct ubiquitination of CRY1 and CRY2. SCF(FBXO9) directs ubiquitination of TTI1 and TELO2. SCF(FBXO10) directs ubiquitination of BCL2. Neddylated; which enhances the ubiquitination activity of SCF and prevents binding of the inhibitor CAND1. Deneddylated via its interaction with the COP9 signalosome (CSN) complex (PubMed:10597293, PubMed:10713156, PubMed:15537541, PubMed:18805092).;(Microbial infection) Deneddylated by Epstein-Barr virus BPLF1 leading to a S-phase-like environment that is required for efficient replication of the viral genome (PubMed:20190741). Belongs to the cullin family. Protein modification; protein ubiquitination.;Cell cycle;Oocyte meiosis;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;Wnt signaling pathway;TGF-beta signaling pathway;Circadian rhythm - mammal;Herpes simplex infection;Activation of NF-kappaB in B cells;SCF-beta-TrCP mediated degradation of Emi1;Degradation of beta-catenin by the destruction complex;FCERI mediated NF-kB activation;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;NIK-->noncanonical NF-kB signaling;Orc1 removal from chromatin;Antigen processing: Ubiquitination & Proteasome degradation;Regulation of PLK1 Activity at G2/M Transition;Downstream TCR signaling;SCF(Skp2)-mediated degradation of p27/p21;Circadian Clock;Prolactin receptor signaling;Iron uptake and transport;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Cyclin D associated events in G1;Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling;MAP3K8 (TPL2)-dependent MAPK1/3 activation;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX2 expression and activity;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling PE1 7 +NX_Q13617 Cullin-2 745 86983 6.46 0 Nucleoplasm NA Core component of multiple cullin-RING-based ECS (ElonginB/C-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of target proteins. ECS complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins (PubMed:27565346). May serve as a rigid scaffold in the complex and may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the ECS complex depends on the substrate recognition component. ECS(VHL) mediates the ubiquitination of hypoxia-inducible factor (HIF). Neddylated; which enhances the ubiquitination activity of ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes. CBC(VHL) complex formation seems to promote neddylation. Deneddylated via its interaction with the COP9 signalosome (CSN) complex (By similarity). Belongs to the cullin family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Pathways in cancer;Renal cell carcinoma;Antigen processing: Ubiquitination & Proteasome degradation;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Neddylation;Regulation of expression of SLITs and ROBOs PE1 10 +NX_Q13618 Cullin-3 768 88930 8.68 0 Cytoplasm;Golgi apparatus;Spindle pole;Centrosome;Flagellum;Spindle;Nucleus Pseudohypoaldosteronism 2E Core component of multiple cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. BCR complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins (PubMed:27565346). As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the BCR complex depends on the BTB domain-containing protein as the substrate recognition component. BCR(KLHL42) is involved in ubiquitination of KATNA1. BCR(SPOP) is involved in ubiquitination of BMI1/PCGF4, BRMS1, H2AFY and DAXX, GLI2 and GLI3. Can also form a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containing homodimeric SPOPL or the heterodimer formed by SPOP and SPOPL; these complexes have lower ubiquitin ligase activity. BCR(KLHL9-KLHL13) controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis. BCR(KLHL12) is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B) (PubMed:22358839, PubMed:27716508). BCR(KLHL3) acts as a regulator of ion transport in the distal nephron; by mediating ubiquitination of WNK4 (PubMed:23387299, PubMed:23453970, PubMed:23576762). The BCR(KLHL20) E3 ubiquitin ligase complex is involved in interferon response and anterograde Golgi to endosome transport: it mediates both ubiquitination leading to degradation and 'Lys-33'-linked ubiquitination (PubMed:20389280, PubMed:21840486, PubMed:21670212, PubMed:24768539). The BCR(KLHL21) E3 ubiquitin ligase complex regulates localization of the chromosomal passenger complex (CPC) from chromosomes to the spindle midzone in anaphase and mediates the ubiquitination of AURKB (PubMed:19995937). The BCR(KLHL22) ubiquitin ligase complex mediates monoubiquitination of PLK1, leading to PLK1 dissociation from phosphoreceptor proteins and subsequent removal from kinetochores, allowing silencing of the spindle assembly checkpoint (SAC) and chromosome segregation (PubMed:23455478). The BCR(KLHL22) ubiquitin ligase complex is also responsible for the amino acid-stimulated 'Lys-48' polyubiquitination and proteasomal degradation of DEPDC5. Through the degradation of DEPDC5, releases the GATOR1 complex-mediated inhibition of the TORC1 pathway (PubMed:29769719). The BCR(KLHL25) ubiquitin ligase complex is involved in translational homeostasis by mediating ubiquitination and subsequent degradation of hypophosphorylated EIF4EBP1 (4E-BP1) (PubMed:22578813). The BCR(KBTBD8) complex acts by mediating monoubiquitination of NOLC1 and TCOF1, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). Involved in ubiquitination of cyclin E and of cyclin D1 (in vitro) thus involved in regulation of G1/S transition. Involved in the ubiquitination of KEAP1, ENC1 and KLHL41 (PubMed:15983046). In concert with ATF2 and RBX1, promotes degradation of KAT5 thereby attenuating its ability to acetylate and activate ATM. The BCR(KCTD17) E3 ubiquitin ligase complex mediates ubiquitination and degradation of TCHP, a down-regulator of cilium assembly, thereby inducing ciliogenesis (PubMed:25270598). The BCR(KLHL24) E3 ubiquitin ligase complex mediates ubiquitination of KRT14, controls KRT14 levels during keratinocytes differentiation, and is essential for skin integrity (PubMed:27798626). The BCR(KLHL18) E3 ubiquitin ligase complex mediates the ubiquitination of AURKA leading to its activation at the centrosome which is required for initiating mitotic entry (PubMed:23213400). The BCR(KEAP1) E3 ubiquitin ligase complex acts as a key sensor of oxidative and electrophilic stress by mediating ubiquitination and degradation of NFE2L2/NRF2, a transcription factor regulating expression of many cytoprotective genes (PubMed:15601839, PubMed:16006525). Neddylated. Attachment of NEDD8 is required for the E3 ubiquitin-protein ligase activity of the BCR complex. Deneddylated via its interaction with the COP9 signalosome (CSN) complex. Belongs to the cullin family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Degradation of DVL;Hedgehog 'on' state;Regulation of RAS by GAPs;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 2 +NX_Q13619 Cullin-4A 759 87680 8.29 0 NA NA Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition component. DCX(DET1-COP1) directs ubiquitination of JUN. DCX(DDB2) directs ubiquitination of XPC. DCX(DDB2) ubiquitinates histones H3-H4 and is required for efficient histone deposition during replication-coupled (H3.1) and replication-independent (H3.3) nucleosome assembly, probably by facilitating the transfer of H3 from ASF1A/ASF1B to other chaperones involved in histone deposition. DCX(DTL) plays a role in PCNA-dependent polyubiquitination of CDT1 and MDM2-dependent ubiquitination of TP53 in response to radiation-induced DNA damage and during DNA replication. In association with DDB1 and SKP2 probably is involved in ubiquitination of CDKN1B/p27kip. Is involved in ubiquitination of HOXA9. DCX(DTL) directs autoubiquitination of DTL. The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1 (PubMed:26431207). With CUL4B, contributes to ribosome biogenesis (PubMed:26711351). Neddylated. Deneddylated via its interaction with the COP9 signalosome (CSN) complex.;(Microbial infection) Deneddylated by Epstein-Barr virus BPLF1 leading to a S-phase-like environment that is required for efficient replication of the viral genome. Belongs to the cullin family. Protein modification; protein ubiquitination.;Nucleotide excision repair;Ubiquitin mediated proteolysis;Recognition of DNA damage by PCNA-containing replication complex;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;DNA Damage Recognition in GG-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER;Neddylation PE1 13 +NX_Q13620 Cullin-4B 913 103982 7.01 0 Nucleus Mental retardation, X-linked, syndromic, 15 Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition subunit. CUL4B may act within the complex as a scaffold protein, contributing to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. Plays a role as part of the E3 ubiquitin-protein ligase complex in polyubiquitination of CDT1, histone H2A, histone H3 and histone H4 in response to radiation-induced DNA damage. Targeted to UV damaged chromatin by DDB2 and may be important for DNA repair and DNA replication. Required for ubiquitination of cyclin E, and consequently, normal G1 cell cycle progression. Regulates the mammalian target-of-rapamycin (mTOR) pathway involved in control of cell growth, size and metabolism. Specific CUL4B regulation of the mTORC1-mediated pathway is dependent upon 26S proteasome function and requires interaction between CUL4B and MLST8. With CUL4A, contributes to ribosome biogenesis (PubMed:26711351). Neddylated. Deneddylated via its interaction with the COP9 signalosome (CSN) complex. Belongs to the cullin family. Protein modification; protein ubiquitination.;Nucleotide excision repair;Ubiquitin mediated proteolysis;Recognition of DNA damage by PCNA-containing replication complex;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;DNA Damage Recognition in GG-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER;Neddylation PE1 X +NX_Q13621 Solute carrier family 12 member 1 1099 121450 7.18 12 Membrane;Cytoplasmic vesicle;Nucleoplasm Bartter syndrome 1, antenatal Renal sodium, potassium and chloride ion cotransporter that mediates the transepithelial NaCl reabsorption in the thick ascending limb and plays an essential role in the urinary concentration and volume regulation. Electrically silent transporter system. NA Belongs to the SLC12A transporter family. Cation-coupled Chloride cotransporters;Defective SLC12A1 causes Bartter syndrome 1 (BS1) PE1 15 +NX_Q13625 Apoptosis-stimulating of p53 protein 2 1128 125616 5.78 0 Cytosol;Cell junction;Perinuclear region;Nucleus NA Regulator that plays a central role in regulation of apoptosis and cell growth via its interactions with proteins such as TP53 (PubMed:12524540). Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo. Inhibits the ability of APPBP1 to conjugate NEDD8 to CUL1, and thereby decreases APPBP1 ability to induce apoptosis. Impedes cell cycle progression at G2/M. Its apoptosis-stimulating activity is inhibited by its interaction with DDX42. TP53BP2 is phosphorylated by YES1 (Phosphotyrosine:PTM-0255) Belongs to the ASPP family. Activation of PUMA and translocation to mitochondria;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;TP53 Regulates Transcription of Death Receptors and Ligands;TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain;Regulation of TP53 Activity through Association with Co-factors PE1 1 +NX_Q13627 Dual specificity tyrosine-phosphorylation-regulated kinase 1A 763 85584 8.9 0 Nucleolus;Cytosol;Nucleus speckle;Nucleus Mental retardation, autosomal dominant 7 Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Modulates alternative splicing by phosphorylating the splice factor SRSF6 (By similarity). Exhibits a substrate preference for proline at position P+1 and arginine at position P-3. Has pro-survival function and negatively regulates the apoptotic process. Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1. This in turn inhibits TP53 activity and apoptosis (By similarity). Autophosphorylated on numerous tyrosine residues. Can also autophosphorylate on serine and threonine residues (in vitro).;DYRK1A is phosphorylated by LATS2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily. G0 and Early G1 PE1 21 +NX_Q13630 GDP-L-fucose synthase 321 35893 6.12 0 Nucleoplasm;Cytosol NA Catalyzes the two-step NADP-dependent conversion of GDP-4-dehydro-6-deoxy-D-mannose to GDP-fucose, involving an epimerase and a reductase reaction. NA Belongs to the NAD(P)-dependent epimerase/dehydratase family. Fucose synthase subfamily. Nucleotide-sugar biosynthesis; GDP-L-fucose biosynthesis via de novo pathway; GDP-L-fucose from GDP-alpha-D-mannose: step 2/2.;Fructose and mannose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;GDP-fucose biosynthesis PE1 8 +NX_Q13634 Cadherin-18 790 88073 4.98 1 Cell membrane NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. NA NA Adherens junctions interactions PE1 5 +NX_Q13635 Protein patched homolog 1 1447 160545 6.42 12 Golgi apparatus;Cell membrane Holoprosencephaly 7;Basal cell carcinoma;Basal cell nevus syndrome Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis. Glycosylation is necessary for SHH binding.;In the absence of Hh ligands, ubiquitination by ITCH at Lys-1426 promotes endocytosis and both proteasomal and lysosomal degradation. Belongs to the patched family. Hedgehog signaling pathway;Pathways in cancer;Basal cell carcinoma;Hedgehog 'on' state;Class B/2 (Secretin family receptors);Hedgehog 'off' state;Activation of SMO;Ligand-receptor interactions PE1 9 +NX_Q13636 Ras-related protein Rab-31 194 21569 6.59 0 trans-Golgi network;Cytoplasm;Phagosome membrane;Early endosome;trans-Golgi network membrane;Phagosome NA The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Required for the integrity and for normal function of the Golgi apparatus and the trans-Golgi network. Plays a role in insulin-stimulated translocation of GLUT4 to the cell membrane. Plays a role in M6PR transport from the trans-Golgi network to endosomes. Plays a role in the internalization of EGFR from the cell membrane into endosomes. Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. NA Belongs to the small GTPase superfamily. Rab family. Endocytosis;Neutrophil degranulation;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 18 +NX_Q13637 Ras-related protein Rab-32 225 24997 6.08 0 Mitochondrion outer membrane;Mitochondrion;Phagosome membrane;Melanosome;Phagosome;Cytosol;Melanosome membrane NA Acts as an A-kinase anchoring protein by binding to the type II regulatory subunit of protein kinase A and anchoring it to the mitochondrion. Also involved in synchronization of mitochondrial fission (PubMed:12186851). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays an important role in the control of melanin production and melanosome biogenesis (PubMed:23084991). In concert with RAB38, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity). NA Belongs to the small GTPase superfamily. Rab family. RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 6 +NX_Q13639 5-hydroxytryptamine receptor 4 388 43761 8.06 7 Endosome;Cell membrane NA This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase. HTR4 is phosphorylated by GRK5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Serotonin receptors PE1 5 +NX_Q13641 Trophoblast glycoprotein 420 46032 6.35 1 Nucleoplasm;Cell membrane NA May function as an inhibitor of Wnt/beta-catenin signaling by indirectly interacting with LRP6 and blocking Wnt3a-dependent LRP6 internalization. Highly glycosylated. NA NA PE1 6 +NX_Q13642 Four and a half LIM domains protein 1 323 36263 9.25 0 Cytoplasm;Cytosol;Nucleus;Cell membrane Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset;Reducing body myopathy, X-linked 1B, with late childhood or adult onset;Scapuloperoneal myopathy, X-linked dominant;Emery-Dreifuss muscular dystrophy 6, X-linked;Myopathy, X-linked, with postural muscle atrophy;Uruguay faciocardiomusculoskeletal syndrome May have an involvement in muscle development or hypertrophy. NA NA NA PE1 X +NX_Q13643 Four and a half LIM domains protein 3 280 31192 5.79 0 Cytoplasm;Nucleoplasm NA NA NA NA NA PE1 1 +NX_Q13651 Interleukin-10 receptor subunit alpha 578 63003 5.23 1 Cytoplasm;Cell membrane Inflammatory bowel disease 28 Cell surface receptor for the cytokine IL10 that participates in IL10-mediated anti-inflammatory functions, limiting excessive tissue disruption caused by inflammation. Upon binding to IL10, induces a conformational change in IL10RB, allowing IL10RB to bind IL10 as well (PubMed:16982608). In turn, the heterotetrameric assembly complex, composed of two subunits of IL10RA and IL10RB, activates the kinases JAK1 and TYK2 that are constitutively associated with IL10RA and IL10RB respectively (PubMed:12133952). These kinases then phosphorylate specific tyrosine residues in the intracellular domain in IL10RA leading to the recruitment and subsequent phosphorylation of STAT3. Once phosphorylated, STAT3 homodimerizes, translocates to the nucleus and activates the expression of anti-inflammatory genes. In addition, IL10RA-mediated activation of STAT3 inhibits starvation-induced autophagy (PubMed:26962683). Ubiquitinated by BTRC; ubiquitination leads to endocytosis and subsequent degradation of IL10RA.;Phosphorylated. Phosphorylation of the cytoplasmic tail induced STAT3 activation. Belongs to the type II cytokine receptor family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Toxoplasmosis;Tuberculosis;Interleukin-10 signaling PE1 11 +NX_Q13670 Putative postmeiotic segregation increased 2-like protein 11 270 28555 6.23 0 NA NA NA NA Belongs to the DNA mismatch repair MutL/HexB family. NA PE5 7 +NX_Q13671 Ras and Rab interactor 1 783 84099 8.3 0 Cytoplasm;Nucleus membrane;Membrane;Nucleoplasm;Cytoskeleton NA Ras effector protein, which may serve as an inhibitory modulator of neuronal plasticity in aversive memory formation. Can affect Ras signaling at different levels. First, by competing with RAF1 protein for binding to activated Ras. Second, by enhancing signaling from ABL1 and ABL2, which regulate cytoskeletal remodeling. Third, by activating RAB5A, possibly by functioning as a guanine nucleotide exchange factor (GEF) for RAB5A, by exchanging bound GDP for free GTP, and facilitating Ras-activated receptor endocytosis. Phosphorylated on tyrosine residues by ABL1 and ABL2. Phosphorylation at Ser-351 by PRKD1 induces interaction with 14-3-3 proteins. Belongs to the RIN (Ras interaction/interference) family. RAB GEFs exchange GTP for GDP on RABs PE1 11 +NX_Q13683 Integrin alpha-7 1181 128948 5.47 1 Membrane;Cytoplasmic vesicle;Nucleus speckle;Cell membrane Muscular dystrophy congenital due to integrin alpha-7 deficiency Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate their localization at laminin-rich sites of secondary fiber formation. It is involved in the maintenance of the myofibers cytoarchitecture as well as for their anchorage, viability and functional integrity.;Promote myoblast migration on laminin 1 and laminin 2/4, but isoform Alpha-7X1B is less active on laminin 1 (In vitro). Acts as Schwann cell receptor for laminin-2. Acts as a receptor of COMP and mediates its effect on vascular smooth muscle cells (VSMCs) maturation (By similarity). Required to promote contractile phenotype acquisition in differentiated airway smooth muscle (ASM) cells. ADP-ribosylated on at least two sites of the extracellular domain in skeletal myotubes.;A 70 kDa form is created by proteolytic cleavage. Cleavage is elevated during myogenic differentiation and the cleaved form enhances cell adhesion and spreading on laminin. Belongs to the integrin alpha chain family. Focal adhesion;ECM-receptor interaction;Regulation of actin cytoskeleton;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Integrin cell surface interactions;ECM proteoglycans;Laminin interactions PE1 12 +NX_Q13685 Angio-associated migratory cell protein 434 46751 4.29 0 Cytoplasm;Cytosol;Cytoskeleton;Cell membrane NA Plays a role in angiogenesis and cell migration. In smooth muscle cell migration, may act through the RhoA pathway. NA NA NA PE1 2 +NX_Q13686 Nucleic acid dioxygenase ALKBH1 389 43832 6.61 0 Endoplasmic reticulum;Nucleoplasm;Mitochondrion;Nucleus NA Dioxygenase that acts as on nucleic acids, such as DNA and tRNA (PubMed:18603530, PubMed:27745969, PubMed:27497299). Requires molecular oxygen, alpha-ketoglutarate and iron (PubMed:18603530, PubMed:27497299). A number of activities have been described for this dioxygenase, but recent results suggest that it mainly acts as on tRNAs and mediates their demethylation or oxidation depending on the context and subcellular compartment (PubMed:27745969, PubMed:27497299). Mainly acts as a tRNA demethylase by removing N(1)-methyladenine from various tRNAs, with a preference for N(1)-methyladenine at position 58 (m1A58) present on a stem loop structure of tRNAs (PubMed:27745969). Acts as a regulator of translation initiation and elongation in response to glucose deprivation: regulates both translation initiation, by mediating demethylation of tRNA(Met), and translation elongation, N(1)-methyladenine-containing tRNAs being preferentially recruited to polysomes to promote translation elongation (PubMed:27745969). In mitochondrion, specifically interacts with mt-tRNA(Met) and mediates oxidation of mt-tRNA(Met) methylated at cytosine(34) to form 5-formylcytosine (f(5)c) at this position (PubMed:27497299). Mt-tRNA(Met) containing the f(5)c modification at the wobble position enables recognition of the AUA codon in addition to the AUG codon, expanding codon recognition in mitochondrial translation (PubMed:27497299). Specifically demethylates DNA methylated on the 6th position of adenine (N(6)-methyladenosine) DNA (PubMed:30017583). N(6)-methyladenosine (m6A) DNA is present at some L1 elements in embryonic stem cells and probably promotes their silencing (By similarity). Demethylates mRNAs containing N(3)-methylcytidine modification (PubMed:31188562). Also able to repair alkylated single-stranded DNA by oxidative demethylation, but with low activity (PubMed:18603530). Also has DNA lyase activity and introduces double-stranded breaks at abasic sites: cleaves both single-stranded DNA and double-stranded DNA at abasic sites, with the greatest activity towards double-stranded DNA with two abasic sites (PubMed:19959401). DNA lyase activity does not require alpha-ketboglutarate and iron and leads to the formation of an irreversible covalent protein-DNA adduct with the 5' DNA product (PubMed:19959401, PubMed:23577621). DNA lyase activity is not required during base excision repair and class switch recombination of the immunoglobulin heavy chain during B lymphocyte activation. May play a role in placental trophoblast lineage differentiation (By similarity). NA Belongs to the alkB family. NA PE1 14 +NX_Q13698 Voltage-dependent L-type calcium channel subunit alpha-1S 1873 212350 6.17 24 T-tubule Thyrotoxic periodic paralysis 1;Malignant hyperthermia 5;Periodic paralysis hypokalemic 1 Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. The alpha-1S subunit is found in two isoforms in the skeletal muscle: a minor form of 212 kDa containing the complete amino acid sequence, and a major form of 190 kDa derived from the full-length form by post-translational proteolysis close to Phe-1690.;Both the minor and major forms are phosphorylated in vitro by PKA. Phosphorylation by PKA activates the calcium channel. Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1S subfamily. MAPK signaling pathway;Calcium signaling pathway;Cardiac muscle contraction;Vascular smooth muscle contraction;Cholinergic synapse;GABAergic synapse;GnRH signaling pathway;Alzheimer's disease;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;NCAM1 interactions;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 1 +NX_Q13702 43 kDa receptor-associated protein of the synapse 412 46328 8.48 0 Cell membrane;Postsynaptic cell membrane;Centrosome;Cytosol;Cytoskeleton Fetal akinesia deformation sequence 2;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Ubiquitinated by the BCR(KLHL8) complex, leading to its degradation. Belongs to the RAPsyn family. NA PE1 11 +NX_Q13705 Activin receptor type-2B 512 57724 5.46 1 Nucleoplasm;Cytosol;Nucleus;Cell membrane Heterotaxy, visceral, 4, autosomal Transmembrane serine/threonine kinase activin type-2 receptor forming an activin receptor complex with activin type-1 serine/threonine kinase receptors (ACVR1, ACVR1B or ACVR1c). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, the type-2 receptors act as a primary activin receptors (binds activin-A/INHBA, activin-B/INHBB as well as inhibin-A/INHA-INHBA). The type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. Phosphorylated. Constitutive phosphorylation is in part catalyzed by its own kinase activity. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Cytokine-cytokine receptor interaction;TGF-beta signaling pathway;Signaling by BMP;Signaling by NODAL;Signaling by Activin;Regulation of signaling by NODAL PE1 3 +NX_Q13724 Mannosyl-oligosaccharide glucosidase 837 91918 8.97 1 Endoplasmic reticulum;Endoplasmic reticulum membrane Type IIb congenital disorder of glycosylation Cleaves the distal alpha 1,2-linked glucose residue from the Glc(3)Man(9)GlcNAc(2) oligosaccharide precursor in a highly specific manner. NA Belongs to the glycosyl hydrolase 63 family. Glycan metabolism; N-glycan degradation.;N-Glycan biosynthesis;Metabolic pathways;Protein processing in endoplasmic reticulum;Defective MOGS causes MOGS-CDG (CDG-2b);N-glycan trimming in the ER and Calnexin/Calreticulin cycle PE1 2 +NX_Q13733 Sodium/potassium-transporting ATPase subunit alpha-4 1029 114166 6.23 10 Cell membrane NA This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. Plays a role in sperm motility. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. Cardiac muscle contraction;Aldosterone-regulated sodium reabsorption;Endocrine and other factor-regulated calcium reabsorption;Proximal tubule bicarbonate reclamation;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Carbohydrate digestion and absorption;Protein digestion and absorption;Bile secretion;Mineral absorption;Ion transport by P-type ATPases;Ion homeostasis PE1 1 +NX_Q13740 CD166 antigen 583 65102 5.92 1 Axon;Dendrite;Secreted;Cell membrane NA Cell adhesion molecule that mediates both heterotypic cell-cell contacts via its interaction with CD6, as well as homotypic cell-cell contacts (PubMed:7760007, PubMed:15496415, PubMed:15048703, PubMed:16352806, PubMed:23169771, PubMed:24945728). Promotes T-cell activation and proliferation via its interactions with CD6 (PubMed:15048703, PubMed:16352806, PubMed:24945728). Contributes to the formation and maturation of the immunological synapse via its interactions with CD6 (PubMed:15294938, PubMed:16352806). Mediates homotypic interactions with cells that express ALCAM (PubMed:15496415, PubMed:16352806). Required for normal hematopoietic stem cell engraftment in the bone marrow (PubMed:24740813). Mediates attachment of dendritic cells onto endothelial cells via homotypic interaction (PubMed:23169771). Inhibits endothelial cell migration and promotes endothelial tube formation via homotypic interactions (PubMed:15496415, PubMed:23169771). Required for normal organization of the lymph vessel network. Required for normal hematopoietic stem cell engraftment in the bone marrow. Plays a role in hematopoiesis; required for normal numbers of hematopoietic stem cells in bone marrow. Promotes in vitro osteoblast proliferation and differentiation (By similarity). Promotes neurite extension, axon growth and axon guidance; axons grow preferentially on surfaces that contain ALCAM. Mediates outgrowth and pathfinding for retinal ganglion cell axons (By similarity).;Inhibits activities of membrane-bound isoforms by competing for the same interaction partners. Inhibits cell attachment via homotypic interactions. Promotes endothelial cell migration. Inhibits endothelial cell tube formation. Glycosylated. NA Cell adhesion molecules (CAMs);L1CAM interactions PE1 3 +NX_Q13751 Laminin subunit beta-3 1172 129572 7.14 0 Cytoplasmic vesicle;Basement membrane Epidermolysis bullosa, junctional, Herlitz type;Generalized atrophic benign epidermolysis bullosa;Amelogenesis imperfecta 1A Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. NA NA Focal adhesion;ECM-receptor interaction;Toxoplasmosis;Amoebiasis;Pathways in cancer;Small cell lung cancer;Degradation of the extracellular matrix;Assembly of collagen fibrils and other multimeric structures;Type I hemidesmosome assembly;Non-integrin membrane-ECM interactions;Laminin interactions;Anchoring fibril formation;MET activates PTK2 signaling PE1 1 +NX_Q13753 Laminin subunit gamma-2 1193 130976 5.83 0 Basement membrane;Cytosol Epidermolysis bullosa, junctional, Herlitz type Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Ladsin exerts cell-scattering activity toward a wide variety of cells, including epithelial, endothelial, and fibroblastic cells. NA NA Focal adhesion;ECM-receptor interaction;Toxoplasmosis;Amoebiasis;Pathways in cancer;Small cell lung cancer;Degradation of the extracellular matrix;Assembly of collagen fibrils and other multimeric structures;Type I hemidesmosome assembly;Non-integrin membrane-ECM interactions;Laminin interactions;Anchoring fibril formation;MET activates PTK2 signaling PE1 1 +NX_Q13761 Runt-related transcription factor 3 415 44356 9.53 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters (By similarity). May be involved in the control of cellular proliferation and/or differentiation. In association with ZFHX3, upregulates CDKN1A promoter activity following TGF-beta stimulation (PubMed:20599712). CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. CBF complexes binding to the transcriptional silencer is essential for recruitment of nuclear protein complexes that catalyze epigenetic modifications to establish epigenetic ZBTB7B silencing (By similarity). Phosphorylated on tyrosine residues by SRC. Phosphorylated by LCK and FYN.;RUNX3 is phosphorylated by SRC (Phosphotyrosine:PTM-0255) NA Binding of TCF/LEF:CTNNB1 to target gene promoters;Regulation of RUNX3 expression and activity;RUNX3 regulates YAP1-mediated transcription;RUNX3 Regulates Immune Response and Cell Migration;RUNX3 regulates CDKN1A transcription;RUNX3 regulates WNT signaling;RUNX3 regulates NOTCH signaling;RUNX3 regulates RUNX1-mediated transcription;RUNX3 regulates p14-ARF;RUNX3 regulates BCL2L11 (BIM) transcription PE1 1 +NX_Q13765 Nascent polypeptide-associated complex subunit alpha 215 23384 4.52 0 Cytoplasm;Nucleus NA Prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. Also reduces the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites). May act as a specific coactivator for JUN, binding to DNA and stabilizing the interaction of JUN homodimers with target gene promoters. Phosphorylation of Thr-159 by GSK3B may promote proteasome mediated degradation (By similarity). Phosphorylation of Ser-43 by ILK during cell adhesion may promote nuclear localization. Belongs to the NAC-alpha family. NA PE1 12 +NX_Q13769 THO complex subunit 5 homolog 683 78508 6.41 0 Cytoplasm;Nucleoplasm;Nucleus NA Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. THOC5 in conjunction with ALYREF/THOC4 functions in NXF1-NXT1 mediated nuclear export of HSP70 mRNA; both proteins enhance the RNA binding activity of NXF1 and are required for NXF1 localization to the nuclear rim. Involved in transcription elongation and genome stability. Involved in alternative polyadenylation site choice by recruiting CPSF6 to 5' region of target genes; probably mediates association of the TREX and CFIm complexes.;Regulates the expression of myeloid transcription factors CEBPA, CEBPB and GAB2 by enhancing the levels of phosphatidylinositol 3,4,5-trisphosphate. May be involved in the differentiation of granulocytes and adipocytes. Essential for hematopoietic primitive cell survival and plays an integral role in monocytic development. Phosphorylated on tyrosine upon binding to activated CSF1R; which causes a dissociation of the two proteins. Phosphorylation on Ser-5 and/or Ser-6 is required for nuclear export. Phosphorylated on Thr-328 in insulin-stimulated adipocytes (By similarity). Phosphorylation at Tyr-225 modulates mRNA binding. Belongs to the THOC5 family. RNA transport;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 22 +NX_Q13772 Nuclear receptor coactivator 4 614 69726 5.72 0 Golgi apparatus;Cytosol;Nucleolus NA Enhances the androgen receptor transcriptional activity in prostate cancer cells. Ligand-independent coactivator of the peroxisome proliferator-activated receptor (PPAR) gamma. NA NA Pathways in cancer;Thyroid cancer PE1 10 +NX_Q13790 Apolipoprotein F 326 35399 5.42 0 Secreted NA Minor apolipoprotein that associates with LDL. Inhibits cholesteryl ester transfer protein (CETP) activity and appears to be an important regulator of cholesterol transport. Also associates to a lesser degree with VLDL, Apo-AI and Apo-AII. O-glycosylated with core 1 or possibly core 8 glycans. Belongs to the apolipoprotein F family. LDL remodeling PE1 12 +NX_Q13794 Phorbol-12-myristate-13-acetate-induced protein 1 54 6030 10.3 0 Cytoplasmic vesicle;Mitochondrion NA Promotes activation of caspases and apoptosis. Promotes mitochondrial membrane changes and efflux of apoptogenic proteins from the mitochondria. Contributes to p53/TP53-dependent apoptosis after radiation exposure. Promotes proteasomal degradation of MCL1. Competes with BAK1 for binding to MCL1 and can displace BAK1 from its binding site on MCL1 (By similarity). Competes with BIM/BCL2L11 for binding to MCL1 and can displace BIM/BCL2L11 from its binding site on MCL1. NA Belongs to the PMAIP1 family. p53 signaling pathway;BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members;Activation of NOXA and translocation to mitochondria;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release PE1 18 +NX_Q13795 ADP-ribosylation factor-related protein 1 201 22614 7.5 0 trans-Golgi network;Golgi apparatus NA Trans-Golgi-associated GTPase that regulates protein sorting. Controls the targeting of ARL1 and its effector to the trans-Golgi. Required for the lipidation of chylomicrons in the intestine and required for VLDL lipidation in the liver. NA Belongs to the small GTPase superfamily. Arf family. Retrograde transport at the Trans-Golgi-Network PE1 20 +NX_Q13796 Protein Shroom2 1616 176410 6.64 0 Cell membrane;Apical cell membrane;Cell junction;Tight junction;Cytosol;Cytoskeleton NA May be involved in endothelial cell morphology changes during cell spreading. In the retinal pigment epithelium, may regulate the biogenesis of melanosomes and promote their association with the apical cell surface by inducing gamma-tubulin redistribution (By similarity). NA Belongs to the shroom family. NA PE1 X +NX_Q13797 Integrin alpha-9 1035 114489 5.76 1 Cell membrane;Cell junction;Membrane;Nucleoplasm;Cytoplasmic vesicle NA Integrin alpha-9/beta-1 (ITGA9:ITGB1) is a receptor for VCAM1, cytotactin and osteopontin. It recognizes the sequence A-E-I-D-G-I-E-L in cytotactin. NA Belongs to the integrin alpha chain family. Focal adhesion;ECM-receptor interaction;Cell adhesion molecules (CAMs);Regulation of actin cytoskeleton;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Signal transduction by L1;Integrin cell surface interactions;ECM proteoglycans PE1 3 +NX_Q13813 Spectrin alpha chain, non-erythrocytic 1 2472 284539 5.22 0 Cytoplasmic vesicle;Cell cortex;Cytoskeleton Epileptic encephalopathy, early infantile, 5 Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. Phosphorylation of Tyr-1176 decreases sensitivity to cleavage by calpain in vitro. Belongs to the spectrin family. Tight junction;RAF/MAP kinase cascade;Interaction between L1 and Ankyrins;Caspase-mediated cleavage of cytoskeletal proteins;Nephrin family interactions;NCAM signaling for neurite out-growth;COPI-mediated anterograde transport;Neutrophil degranulation PE1 9 +NX_Q13822 Ectonucleotide pyrophosphatase/phosphodiesterase family member 2 863 98994 7.14 0 Golgi apparatus;Nucleoplasm;Secreted;Cytoskeleton NA Hydrolyzes lysophospholipids to produce the signaling molecule lysophosphatidic acid (LPA) in extracellular fluids (PubMed:15769751, PubMed:26371182, PubMed:27754931). Major substrate is lysophosphatidylcholine (PubMed:12176993, PubMed:27754931). Also can act on sphingosylphosphorylcholine producing sphingosine-1-phosphate, a modulator of cell motility. Can hydrolyze, in vitro, bis-pNPP, to some extent pNP-TMP, and barely ATP (PubMed:15769751, PubMed:12176993). Involved in several motility-related processes such as angiogenesis and neurite outgrowth. Acts as an angiogenic factor by stimulating migration of smooth muscle cells and microtubule formation (PubMed:11559573). Stimulates migration of melanoma cells, probably via a pertussis toxin-sensitive G protein (PubMed:1733949). May have a role in induction of parturition (PubMed:12176993). Possible involvement in cell proliferation and adipose tissue development (Probable). Tumor cell motility-stimulating factor (PubMed:1733949, PubMed:11559573). N-glycosylation, but not furin-cleavage, plays a critical role on secretion and on lysoPLD activity. Belongs to the nucleotide pyrophosphatase/phosphodiesterase family. Ether lipid metabolism;Vitamin B5 (pantothenate) metabolism PE1 8 +NX_Q13823 Nucleolar GTP-binding protein 2 731 83655 9.27 0 Nucleolus NA GTPase that associates with pre-60S ribosomal subunits in the nucleolus and is required for their nuclear export and maturation (By similarity). May promote cell proliferation possibly by increasing p53/TP53 protein levels, and consequently those of its downstream product CDKN1A/p21, and decreasing RPL23A protein levels (PubMed:26203195). NA Belongs to the TRAFAC class YlqF/YawG GTPase family. NOG2 subfamily. Ribosome biogenesis in eukaryotes PE1 1 +NX_Q13825 Methylglutaconyl-CoA hydratase, mitochondrial 339 35609 9.53 0 Mitochondrion 3-methylglutaconic aciduria 1 Catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA (PubMed:11738050, PubMed:12434311, PubMed:12655555). Also has itaconyl-CoA hydratase activity by converting itaconyl-CoA into citramalyl-CoA in the C5-dicarboxylate catabolism pathway (PubMed:29056341). The C5-dicarboxylate catabolism pathway is required to detoxify itaconate, a vitamin B12-poisoning metabolite (PubMed:29056341). Has very low enoyl-CoA hydratase activity (PubMed:7892223). Was originally identified as RNA-binding protein that binds in vitro to clustered 5'-AUUUA-3' motifs (PubMed:7892223). NA Belongs to the enoyl-CoA hydratase/isomerase family. Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 3/3.;Valine, leucine and isoleucine degradation;Metabolic pathways;Branched-chain amino acid catabolism PE1 9 +NX_Q13829 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2 316 36204 8.26 0 Nucleolus;Endosome;Cytoplasm;Nucleus NA Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in regulation of cytoskeleton structure. The BCR(TNFAIP1) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradation by the proteasome, thereby regulating the actin cytoskeleton and cell migration. Its interaction with RHOB may regulate apoptosis. May enhance the PCNA-dependent DNA polymerase delta activity. Phosphorylation at Ser-280 by CK2 facilitates the nucleus localization and increases interaction with PCNA. Belongs to the BACURD family. Protein modification; protein ubiquitination. PE1 17 +NX_Q13835 Plakophilin-1 747 82861 9.29 0 Nucleoplasm;Desmosome;Nucleus;Cell membrane Ectodermal dysplasia-skin fragility syndrome Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis. NA Belongs to the beta-catenin family. Apoptotic cleavage of cell adhesion proteins;Neutrophil degranulation;Formation of the cornified envelope;Keratinization PE1 1 +NX_Q13838 Spliceosome RNA helicase DDX39B 428 48991 5.44 0 Cytoplasm;Nucleus speckle;Nucleus NA Splice factor that is required for the first ATP-dependent step in spliceosome assembly and for the interaction of U2 snRNP with the branchpoint. Has both RNA-stimulated ATP binding/hydrolysis activity and ATP-dependent RNA unwinding activity. Even with the stimulation of RNA, the ATPase activity is weak. Can only hydrolyze ATP but not other NTPs. The RNA stimulation of ATPase activity does not have a strong preference for the sequence and length of the RNA. However, ssRNA stimulates the ATPase activity much more strongly than dsRNA. Can unwind 5' or 3' overhangs or blunt end RNA duplexes in vitro. The ATPase and helicase activities are not influenced by U2AF2; the effect of ALYREF/THOC4 is reported conflictingly with [PubMed:23299939] reporting a stimulatory effect.;Involved in nuclear export of spliced and unspliced mRNA. Assembling component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. May undergo several rounds of ATP hydrolysis during assembly of TREX to drive subsequent loading of components such as ALYREF/THOC and CHTOP onto mRNA. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Also associates with pre-mRNA independent of ALYREF/THOC4 and the THO complex. Involved in the nuclear export of intronless mRNA; the ATP-bound form is proposed to recruit export adapter ALYREF/THOC4 to intronless mRNA; its ATPase activity is cooperatively stimulated by RNA and ALYREF/THOC4 and ATP hydrolysis is thought to trigger the dissociation from RNA to allow the association of ALYREF/THOC4 and the NXF1-NXT1 heterodimer. Involved in transcription elongation and genome stability. NA Belongs to the DEAD box helicase family. DECD subfamily. RNA transport;mRNA surveillance pathway;Spliceosome;Influenza A;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 6 +NX_Q13867 Bleomycin hydrolase 455 52562 5.87 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA The normal physiological role of BLM hydrolase is unknown, but it catalyzes the inactivation of the antitumor drug BLM (a glycopeptide) by hydrolyzing the carboxamide bond of its B-aminoalaninamide moiety thus protecting normal and malignant cells from BLM toxicity. NA Belongs to the peptidase C1 family. Antigen processing: Ubiquitination & Proteasome degradation PE1 17 +NX_Q13868 Exosome complex component RRP4 293 32789 7.06 0 Nucleoplasm;Nucleolus;Cytoplasm;Nucleus Short stature, hearing loss, retinitis pigmentosa, and distinctive facies Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC2 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC4 and EXOSC7. NA Belongs to the RRP4 family. RNA degradation;ATF4 activates genes in response to endoplasmic reticulum stress;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA;KSRP (KHSRP) binds and destabilizes mRNA;mRNA decay by 3' to 5' exoribonuclease;Major pathway of rRNA processing in the nucleolus and cytosol PE1 9 +NX_Q13873 Bone morphogenetic protein receptor type-2 1038 115201 5.82 1 Nucleoplasm;Cell membrane Pulmonary venoocclusive disease 1, autosomal dominant;Pulmonary hypertension, primary, 1 On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Binds to BMP7, BMP2 and, less efficiently, BMP4. Binding is weak but enhanced by the presence of type I receptors for BMPs. Mediates induction of adipogenesis by GDF6. NA Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Cytokine-cytokine receptor interaction;TGF-beta signaling pathway;Signaling by BMP PE1 2 +NX_Q13875 Myelin-associated oligodendrocyte basic protein 183 20959 11.35 0 Cytosol;Perinuclear region NA May play a role in compacting or stabilizing the myelin sheath, possibly by binding the negatively charged acidic phospholipids of the cytoplasmic membrane. NA NA Transcriptional Regulation by MECP2 PE1 3 +NX_Q13882 Protein-tyrosine kinase 6 451 51834 6.56 0 Cytoplasm;Cell membrane;Membrane;Nucleoplasm;Ruffle;Cytosol;Nucleus NA Inhibits PTK6 phosphorylation and PTK6 association with other tyrosine-phosphorylated proteins.;Non-receptor tyrosine-protein kinase implicated in the regulation of a variety of signaling pathways that control the differentiation and maintenance of normal epithelia, as well as tumor growth. Function seems to be context dependent and differ depending on cell type, as well as its intracellular localization. A number of potential nuclear and cytoplasmic substrates have been identified. These include the RNA-binding proteins: KHDRBS1/SAM68, KHDRBS2/SLM1, KHDRBS3/SLM2 and SFPQ/PSF; transcription factors: STAT3 and STAT5A/B and a variety of signaling molecules: ARHGAP35/p190RhoGAP, PXN/paxillin, BTK/ATK, STAP2/BKS. Associates also with a variety of proteins that are likely upstream of PTK6 in various signaling pathways, or for which PTK6 may play an adapter-like role. These proteins include ADAM15, EGFR, ERBB2, ERBB3 and IRS4. In normal or non-tumorigenic tissues, PTK6 promotes cellular differentiation and apoptosis. In tumors PTK6 contributes to cancer progression by sensitizing cells to mitogenic signals and enhancing proliferation, anchorage-independent survival and migration/invasion. Association with EGFR, ERBB2, ERBB3 may contribute to mammary tumor development and growth through enhancement of EGF-induced signaling via BTK/AKT and PI3 kinase. Contributes to migration and proliferation by contributing to EGF-mediated phosphorylation of ARHGAP35/p190RhoGAP, which promotes association with RASA1/p120RasGAP, inactivating RhoA while activating RAS. EGF stimulation resulted in phosphorylation of PNX/Paxillin by PTK6 and activation of RAC1 via CRK/CrKII, thereby promoting migration and invasion. PTK6 activates STAT3 and STAT5B to promote proliferation. Nuclear PTK6 may be important for regulating growth in normal epithelia, while cytoplasmic PTK6 might activate oncogenic signaling pathways. Autophosphorylated. Autophosphorylation of Tyr-342 leads to an increase of kinase activity. Tyr-447 binds to the SH2 domain when phosphorylated and negatively regulates kinase activity.;Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. BRK/PTK6/SIK subfamily. SCF(Skp2)-mediated degradation of p27/p21;Cyclin D associated events in G1;PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1;PTK6 Expression;ERBB2 Activates PTK6 Signaling;PTK6 promotes HIF1A stabilization;PTK6 Activates STAT3;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases;PTK6 Regulates Proteins Involved in RNA Processing;PTK6 Regulates Cell Cycle;PTK6 Down-Regulation PE1 20 +NX_Q13884 Beta-1-syntrophin 538 58061 8.81 0 Cell junction;Sarcolemma;Cytoskeleton NA Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. Phosphorylated by CaM-kinase II. Belongs to the syntrophin family. NA PE1 8 +NX_Q13885 Tubulin beta-2A chain 445 49907 4.78 0 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 5 Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).;Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).;Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules. Belongs to the tubulin family. Phagosome;Gap junction;Pathogenic Escherichia coli infection;Separation of Sister Chromatids;MHC class II antigen presentation;Intraflagellar transport;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Hedgehog 'off' state;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Post-chaperonin tubulin folding pathway;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 6 +NX_Q13886 Krueppel-like factor 9 244 27235 8.8 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA Transcription factor that binds to GC box promoter elements. Selectively activates mRNA synthesis from genes containing tandem repeats of GC boxes but represses genes with a single GC box. Acts as an epidermal circadian transcription factor regulating keratinocyte proliferation (PubMed:22711835). NA Belongs to the Sp1 C2H2-type zinc-finger protein family. NA PE1 9 +NX_Q13887 Krueppel-like factor 5 457 50792 8.86 0 Golgi apparatus;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Transcription factor that binds to GC box promoter elements. Activates the transcription of these genes. Ubiquitinated. Polyubiquitination involves WWP1 and leads to proteasomal degradation of this protein. Belongs to the krueppel C2H2-type zinc-finger protein family. Transcriptional regulation of white adipocyte differentiation;Transcriptional regulation of granulopoiesis PE1 13 +NX_Q13888 General transcription factor IIH subunit 2 395 44419 6.28 0 Nucleus NA Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. The N-terminus of GTF2H2 interacts with and regulates XPD whereas an intact C-terminus is required for a successful escape of RNAP II form the promoter. NA Belongs to the GTF2H2 family. Basal transcription factors;Nucleotide excision repair;Basal transcription factors;Nucleotide excision repair;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Tat-mediated elongation of the HIV-1 transcript;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER;TP53 Regulates Transcription of DNA Repair Genes PE1 5 +NX_Q13889 General transcription factor IIH subunit 3 308 34378 6.59 0 Nucleoplasm;Nucleus NA Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. NA Belongs to the TFB4 family. Basal transcription factors;Nucleotide excision repair;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Tat-mediated elongation of the HIV-1 transcript;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER;TP53 Regulates Transcription of DNA Repair Genes PE1 12 +NX_Q13895 Bystin 437 49601 8.19 0 Nucleoplasm;Cytoplasm;Nucleolus NA Required for processing of 20S pre-rRNA precursor and biogenesis of 40S ribosomal subunits. May be required for trophinin-dependent regulation of cell adhesion during implantation of human embryos. NA Belongs to the bystin family. Major pathway of rRNA processing in the nucleolus and cytosol PE1 6 +NX_Q13901 Nuclear nucleic acid-binding protein C1D 141 16019 9 0 Nucleoplasm;Nucleus;Cytoplasm;Nucleolus NA Plays a role in the recruitment of the RNA exosome complex to pre-rRNA to mediate the 3'-5' end processing of the 5.8S rRNA; this function may include MPHOSPH6. Can activate PRKDC not only in the presence of linear DNA but also in the presence of supercoiled DNA. Can induce apoptosis in a p53/TP53 dependent manner. May regulate the TRAX/TSN complex formation. Potentiates transcriptional repression by NR1D1 and THRB (By similarity). Phosphorylated by PRKDC. Belongs to the C1D family. RNA degradation;Major pathway of rRNA processing in the nucleolus and cytosol PE1 2 +NX_Q13905 Rap guanine nucleotide exchange factor 1 1077 120548 5.64 0 Cytoplasmic vesicle;Early endosome NA Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH. Transduces signals from CRK to activate RAS. Plays a role in the establishment of basal endothelial barrier function. Plays a role in nerve growth factor (NGF)-induced sustained activation of Rap1 and neurite outgrowth. Phosphorylation at Tyr-504 enhances activity as Rap guanine nucleotide exchange factor. NA Regulation of signaling by CBL;Frs2-mediated activation;Downstream signal transduction;MET activates RAP1 and RAC1;Erythropoietin activates RAS PE1 9 +NX_Q13907 Isopentenyl-diphosphate Delta-isomerase 1 227 26319 5.93 0 Peroxisome NA Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP). NA Belongs to the IPP isomerase type 1 family. Isoprenoid biosynthesis; dimethylallyl diphosphate biosynthesis; dimethylallyl diphosphate from isopentenyl diphosphate: step 1/1.;Terpenoid backbone biosynthesis;Metabolic pathways;Cholesterol biosynthesis;Activation of gene expression by SREBF (SREBP) PE1 10 +NX_Q13936 Voltage-dependent L-type calcium channel subunit alpha-1C 2221 248977 6.33 24 T-tubule;Cell membrane;Perikaryon;Sarcolemma;Postsynaptic density;Dendrite Brugada syndrome 3;Timothy syndrome (Microbial infection) Acts as a receptor for Influenzavirus (PubMed:29779930). May play a critical role in allowing virus entry when sialylated and expressed on lung tissues (PubMed:29779930).;Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8392192, PubMed:7737988, PubMed:9087614, PubMed:9013606, PubMed:9607315, PubMed:12176756, PubMed:17071743, PubMed:11741969, PubMed:8099908, PubMed:12181424, PubMed:29078335, PubMed:29742403, PubMed:16299511, PubMed:20953164, PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506, PubMed:27218670). Mediates influx of calcium ions into the cytoplasm, and thereby triggers calcium release from the sarcoplasm (By similarity). Plays an important role in excitation-contraction coupling in the heart. Required for normal heart development and normal regulation of heart rhythm (PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506). Required for normal contraction of smooth muscle cells in blood vessels and in the intestine. Essential for normal blood pressure regulation via its role in the contraction of arterial smooth muscle cells (PubMed:28119464). Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group (Probable). Phosphorylation by PKA activates the channel. Elevated levels of blood glucose lead to increased phosphorylation by PKA. Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1C subfamily. MAPK signaling pathway;Calcium signaling pathway;Cardiac muscle contraction;Vascular smooth muscle contraction;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;GnRH signaling pathway;Type II diabetes mellitus;Alzheimer's disease;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;NCAM1 interactions;Adrenaline,noradrenaline inhibits insulin secretion;Regulation of insulin secretion;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 12 +NX_Q13938 Calcyphosin 275 30240 5.67 0 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA Calcium-binding protein. May play a role in cellular signaling events (Potential). NA NA NA PE1 19 +NX_Q13939 Calicin 588 66582 8.49 0 Calyx NA Possible morphogenetic cytoskeletal element in spermiogenic differentiation. NA NA NA PE1 9 +NX_Q13946 High affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A 482 55505 7.1 0 Cytoplasm;Cytosol NA Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May have a role in muscle signal transduction. NA Belongs to the cyclic nucleotide phosphodiesterase family. PDE7 subfamily. Purine metabolism; 3',5'-cyclic AMP degradation; AMP from 3',5'-cyclic AMP: step 1/1.;Purine metabolism;G alpha (s) signalling events PE1 8 +NX_Q13948 Protein CASP 678 77455 5.35 1 Golgi apparatus membrane NA May be involved in intra-Golgi retrograde transport. NA Belongs to the CASP family. Intra-Golgi traffic PE1 7 +NX_Q13950 Runt-related transcription factor 2 521 56648 9.03 0 Nucleoplasm;Nucleus Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly;Cleidocranial dysplasia Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis (PubMed:28505335, PubMed:28738062, PubMed:28703881). Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Inhibits KAT6B-dependent transcriptional activation. Phosphorylated; probably by MAP kinases (MAPK). Phosphorylation by HIPK3 is required for the SPEN/MINT and FGF2 transactivation during osteoblastic differentiation (By similarity). Phosphorylation at Ser-451 by CDK1 promotes endothelial cell proliferation required for tumor angiogenesis probably by facilitating cell cycle progression.;Is phosphorylated on Ser-340.;RUNX2 is phosphorylated by HIPK3 NA YAP1- and WWTR1 (TAZ)-stimulated gene expression;Regulation of RUNX2 expression and activity;Transcriptional regulation by RUNX2;RUNX2 regulates osteoblast differentiation;RUNX2 regulates genes involved in cell migration;RUNX1 regulates transcription of genes involved in differentiation of myeloid cells;RUNX2 regulates bone development;RUNX2 regulates chondrocyte maturation;RUNX2 regulates genes involved in differentiation of myeloid cells PE1 6 +NX_Q13951 Core-binding factor subunit beta 182 21508 6.23 0 Nucleoplasm;Cytosol;Nucleus NA Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. NA Belongs to the CBF-beta family. Regulation of RUNX3 expression and activity;RUNX3 Regulates Immune Response and Cell Migration;RUNX3 regulates RUNX1-mediated transcription;RUNX3 regulates p14-ARF;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Transcriptional regulation by RUNX2;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Regulation of RUNX1 Expression and Activity;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known;RUNX1 regulates estrogen receptor mediated transcription;RUNX1 regulates transcription of genes involved in WNT signaling;RUNX2 regulates osteoblast differentiation;RUNX2 regulates genes involved in cell migration;RUNX1 regulates transcription of genes involved in differentiation of myeloid cells;RUNX1 regulates transcription of genes involved in differentiation of keratinocytes;RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs);RUNX1 regulates transcription of genes involved in BCR signaling;RUNX2 regulates bone development;RUNX2 regulates chondrocyte maturation;RUNX2 regulates genes involved in differentiation of myeloid cells;RUNX1 regulates expression of components of tight junctions;RUNX1 regulates transcription of genes involved in interleukin signaling;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 16 +NX_Q13952 Nuclear transcription factor Y subunit gamma 458 50302 5.78 0 Nucleoplasm;Nucleus NA Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5'-CCAAT-3' box motif found in the promoters of its target genes. NF-Y can function as both an activator and a repressor, depending on its interacting cofactors. NA Belongs to the NFYC/HAP5 subunit family. Antigen processing and presentation;Tuberculosis;PPARA activates gene expression;ATF4 activates genes in response to endoplasmic reticulum stress;Activation of gene expression by SREBF (SREBP);ATF6 (ATF6-alpha) activates chaperone genes;FOXO-mediated transcription of cell death genes PE1 1 +NX_Q13956 Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma 83 9074 9.3 0 NA Cone dystrophy, retinal 3A Participates in processes of transmission and amplification of the visual signal. CGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones. NA Belongs to the rod/cone cGMP-PDE gamma subunit family. Purine metabolism PE1 12 +NX_Q13972 Ras-specific guanine nucleotide-releasing factor 1 1273 145234 7.18 0 Golgi apparatus NA Promotes the exchange of Ras-bound GDP by GTP. Ubiquitinated and degraded following phosphorylation by PLK2.;Phosphorylated by SRC and LCK. Phosphorylation by LCK increases its capacity to stimulate the GDP/GTP exchange on Ras, whereas its phosphorylation by SRC seems not to have an effect on stimulation activity.;Phosphorylated by PLK2, leading to ubiquitination and degradation by the proteasome.;RASGRF1 is phosphorylated by TNK2 (Phosphotyrosine:PTM-0255);RASGRF1 is phosphorylated by PLK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);RASGRF1 is phosphorylated by SRC NA MAPK signaling pathway;Focal adhesion;RAF/MAP kinase cascade;Ras activation upon Ca2+ influx through NMDA receptor PE1 15 +NX_Q13976 cGMP-dependent protein kinase 1 671 76364 5.74 0 Cytoplasm;Cytosol;Cytoplasmic vesicle Aortic aneurysm, familial thoracic 8 Serine/threonine protein kinase that acts as key mediator of the nitric oxide (NO)/cGMP signaling pathway. GMP binding activates PRKG1, which phosphorylates serines and threonines on many cellular proteins. Numerous protein targets for PRKG1 phosphorylation are implicated in modulating cellular calcium, but the contribution of each of these targets may vary substantially among cell types. Proteins that are phosphorylated by PRKG1 regulate platelet activation and adhesion, smooth muscle contraction, cardiac function, gene expression, feedback of the NO-signaling pathway, and other processes involved in several aspects of the CNS like axon guidance, hippocampal and cerebellar learning, circadian rhythm and nociception. Smooth muscle relaxation is mediated through lowering of intracellular free calcium, by desensitization of contractile proteins to calcium, and by decrease in the contractile state of smooth muscle or in platelet activation. Regulates intracellular calcium levels via several pathways: phosphorylates MRVI1/IRAG and inhibits IP3-induced Ca(2+) release from intracellular stores, phosphorylation of KCNMA1 (BKCa) channels decreases intracellular Ca(2+) levels, which leads to increased opening of this channel. PRKG1 phosphorylates the canonical transient receptor potential channel (TRPC) family which inactivates the associated inward calcium current. Another mode of action of NO/cGMP/PKGI signaling involves PKGI-mediated inactivation of the Ras homolog gene family member A (RhoA). Phosphorylation of RHOA by PRKG1 blocks the action of this protein in myriad processes: regulation of RHOA translocation; decreasing contraction; controlling vesicle trafficking, reduction of myosin light chain phosphorylation resulting in vasorelaxation. Activation of PRKG1 by NO signaling alters also gene expression in a number of tissues. In smooth muscle cells, increased cGMP and PRKG1 activity influence expression of smooth muscle-specific contractile proteins, levels of proteins in the NO/cGMP signaling pathway, down-regulation of the matrix proteins osteopontin and thrombospondin-1 to limit smooth muscle cell migration and phenotype. Regulates vasodilator-stimulated phosphoprotein (VASP) functions in platelets and smooth muscle. Autophosphorylation increases kinase activity.;65 kDa monomer is produced by proteolytic cleavage. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. cGMP subfamily. Vascular smooth muscle contraction;Gap junction;Long-term depression;Olfactory transduction;Salivary secretion;Ca2+ pathway;Rap1 signalling;cGMP effects PE1 10 +NX_Q14002 Carcinoembryonic antigen-related cell adhesion molecule 7 265 29379 5.36 0 Apical cell membrane;Cell membrane NA NA NA Belongs to the immunoglobulin superfamily. CEA family. Post-translational modification: synthesis of GPI-anchored proteins PE1 19 +NX_Q14003 Potassium voltage-gated channel subfamily C member 3 757 80578 6.08 6 Cell cortex;Presynaptic cell membrane;Cell membrane;Perikaryon;Dendritic spine membrane;Axon;Dendrite;Cytoskeleton Spinocerebellar ataxia 13 Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient. The channel displays rapid activation and inactivation kinetics (PubMed:10712820, PubMed:26997484, PubMed:22289912, PubMed:23734863, PubMed:16501573, PubMed:19953606, PubMed:21479265, PubMed:25756792). It plays a role in the regulation of the frequency, shape and duration of action potentials in Purkinje cells. Required for normal survival of cerebellar neurons, probably via its role in regulating the duration and frequency of action potentials that in turn regulate the activity of voltage-gated Ca(2+) channels and cellular Ca(2+) homeostasis (By similarity). Required for normal motor function (PubMed:23734863, PubMed:16501573, PubMed:19953606, PubMed:21479265, PubMed:25756792). Plays a role in the reorganization of the cortical actin cytoskeleton and the formation of actin veil structures in neuronal growth cones via its interaction with HAX1 and the Arp2/3 complex (PubMed:26997484). N-glycosylated. Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.3/KCNC3 sub-subfamily. Voltage gated Potassium channels PE1 19 +NX_Q14004 Cyclin-dependent kinase 13 1512 164923 9.71 0 Nucleus speckle Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Cyclin-dependent kinase which displays CTD kinase activity and is required for RNA splicing. Has CTD kinase activity by hyperphosphorylating the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit RPB1, thereby acting as a key regulator of transcription elongation. Required for RNA splicing, probably by phosphorylating SRSF1/SF2. Required during hematopoiesis. In case of infection by HIV-1 virus, interacts with HIV-1 Tat protein acetylated at 'Lys-50' and 'Lys-51', thereby increasing HIV-1 mRNA splicing and promoting the production of the doubly spliced HIV-1 protein Nef. NA Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. TP53 Regulates Transcription of DNA Repair Genes;Neutrophil degranulation PE1 7 +NX_Q14005 Pro-interleukin-16 1332 141752 8.34 0 Cytoplasm;Nucleus speckle;Cell membrane;Secreted;Cytosol;Nucleus;Midbody ring NA Is involved in cell cycle progression in T-cells. Appears to be involved in transcriptional regulation of SKP2 and is probably part of a transcriptional repression complex on the core promoter of the SKP2 gene. May act as a scaffold for GABPB1 (the DNA-binding subunit the GABP transcription factor complex) and HDAC3 thus maintaining transcriptional repression and blocking cell cycle progression in resting T-cells.;Interleukin-16 stimulates a migratory response in CD4+ lymphocytes, monocytes, and eosinophils. Primes CD4+ T-cells for IL-2 and IL-15 responsiveness. Also induces T-lymphocyte expression of interleukin 2 receptor. Ligand for CD4.;May act as a scaffolding protein that anchors ion channels in the membrane. Is synthesized as a chemo-attractant inactive precursor in hemopoietic tissues and is proteolytically cleaved by caspase-3 to yield IL-16. NA Other interleukin signaling PE1 15 +NX_Q14008 Cytoskeleton-associated protein 5 2032 225495 7.95 0 Cell membrane;Nucleolus;Spindle pole;Centrosome;Spindle;Kinetochore NA Binds to the plus end of microtubules and regulates microtubule dynamics and microtubule organization. Acts as processive microtubule polymerase. Promotes cytoplasmic microtubule nucleation and elongation. Plays a major role in organizing spindle poles. In spindle formation protects kinetochore microtubules from depolymerization by KIF2C and has an essential role in centrosomal microtubule assembly independently of KIF2C activity. Contributes to centrosome integrity. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:23532825). Enhances the strength of NDC80 complex-mediated kinetochore-tip microtubule attachments (PubMed:27156448). NA Belongs to the TOG/XMAP215 family. Separation of Sister Chromatids;Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Recruitment of NuMA to mitotic centrosomes;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;AURKA Activation by TPX2 PE1 11 +NX_Q14011 Cold-inducible RNA-binding protein 172 18648 9.51 0 Nucleoplasm;Cytoplasm;Nucleus NA Cold-inducible mRNA binding protein that plays a protective role in the genotoxic stress response by stabilizing transcripts of genes involved in cell survival. Acts as a translational activator. Seems to play an essential role in cold-induced suppression of cell proliferation. Binds specifically to the 3'-untranslated regions (3'-UTRs) of stress-responsive transcripts RPA2 and TXN. Acts as a translational repressor (By similarity). Promotes assembly of stress granules (SGs), when overexpressed. Methylated on arginine residues. Methylation of the RGG motifs is a prerequisite for recruitment into SGs (By similarity).;Phosphorylated by CK2, GSK3A and GSK3B. Phosphorylation by GSK3B increases RNA-binding activity to the TXN 3'-UTR transcript upon exposure to UV radiation. NA NA PE1 19 +NX_Q14012 Calcium/calmodulin-dependent protein kinase type 1 370 41337 5.12 0 Cytoplasm;Cytosol;Nucleus NA Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK1 signaling cascade and, upon calcium influx, regulates transcription activators activity, cell cycle, hormone production, cell differentiation, actin filament organization and neurite outgrowth. Recognizes the substrate consensus sequence [MVLIF]-x-R-x(2)-[ST]-x(3)-[MVLIF]. Regulates axonal extension and growth cone motility in hippocampal and cerebellar nerve cells. Upon NMDA receptor-mediated Ca(2+) elevation, promotes dendritic growth in hippocampal neurons and is essential in synapses for full long-term potentiation (LTP) and ERK2-dependent translational activation. Downstream of NMDA receptors, promotes the formation of spines and synapses in hippocampal neurons by phosphorylating ARHGEF7/BETAPIX on 'Ser-694', which results in the enhancement of ARHGEF7 activity and activation of RAC1. Promotes neuronal differentiation and neurite outgrowth by activation and phosphorylation of MARK2 on 'Ser-91', 'Ser-92', 'Ser-93' and 'Ser-294'. Promotes nuclear export of HDAC5 and binding to 14-3-3 by phosphorylation of 'Ser-259' and 'Ser-498' in the regulation of muscle cell differentiation. Regulates NUMB-mediated endocytosis by phosphorylation of NUMB on 'Ser-276' and 'Ser-295'. Involved in the regulation of basal and estrogen-stimulated migration of medulloblastoma cells through ARHGEF7/BETAPIX phosphorylation (By similarity). Is required for proper activation of cyclin-D1/CDK4 complex during G1 progression in diploid fibroblasts. Plays a role in K(+) and ANG2-mediated regulation of the aldosterone synthase (CYP11B2) to produce aldosterone in the adrenal cortex. Phosphorylates EIF4G3/eIF4GII. In vitro phosphorylates CREB1, ATF1, CFTR, MYL9 and SYN1/synapsin I. Polybiquitinated by the E3 ubiquitin-protein ligase complex SCF(FBXL12), leading to proteasomal degradation.;Phosphorylated by CaMKK1 and CaMKK2 on Thr-177. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. Negative regulation of NMDA receptor-mediated neuronal transmission;Activation of RAC1 downstream of NMDARs PE1 3 +NX_Q14019 Coactosin-like protein 142 15945 5.54 0 Cytoplasm;Cytosol;Nucleus;Cytoskeleton NA Binds to F-actin in a calcium-independent manner. Has no direct effect on actin depolymerization. Acts as a chaperone for ALOX5 (5LO), influencing both its stability and activity in leukotrienes synthesis. NA Belongs to the actin-binding proteins ADF family. Coactosin subfamily. Neutrophil degranulation PE1 16 +NX_Q14028 Cyclic nucleotide-gated cation channel beta-1 1251 139678 4.76 6 Membrane;Cytoplasmic vesicle;Cytosol Retinitis pigmentosa 45 Is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties: it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor 'dark noise' and allowing these sensory cells to operate at the single photon detection limit.;Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP. NA Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB1 subfamily. Olfactory transduction;Phototransduction;VxPx cargo-targeting to cilium;Activation of the phototransduction cascade;Inactivation, recovery and regulation of the phototransduction cascade PE1 16 +NX_Q14031 Collagen alpha-6(IV) chain 1691 163807 9.31 0 Endoplasmic reticulum;Basement membrane Deafness, X-linked, 6 Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.;Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens.;The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues. Belongs to the type IV collagen family. Focal adhesion;ECM-receptor interaction;Protein digestion and absorption;Amoebiasis;Pathways in cancer;Small cell lung cancer;Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Non-integrin membrane-ECM interactions;Laminin interactions;Crosslinking of collagen fibrils;Anchoring fibril formation;Extracellular matrix organization;Collagen chain trimerization PE1 X +NX_Q14032 Bile acid-CoA:amino acid N-acyltransferase 418 46299 6.5 0 Peroxisome;Cytosol;Cytoplasmic vesicle Familial hypercholanemia Catalyzes the amidation of bile acids (BAs) with the amino acids taurine and glycine (PubMed:12810727, PubMed:8034703, PubMed:2037576, PubMed:12239217). More than 95% of the BAs are N-acyl amidates with glycine and taurine (PubMed:8034703). Amidation of BAs in the liver with glycine or taurine prior to their excretion into bile is an important biochemical event in bile acid metabolism (PubMed:12810727). This conjugation (or amidation) plays several important biological roles in that it promotes the secretion of BAs and cholesterol into bile and increases the detergent properties of BAs in the intestine, which facilitates lipid and vitamin absorption (PubMed:12810727). May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fatty acids (PubMed:12810727, PubMed:8034703, PubMed:12239217). In vitro, catalyzes the hydrolysis of long- and very long-chain saturated acyl-CoAs to the free fatty acid and coenzyme A (CoASH), and conjugates glycine to these acyl-CoAs (PubMed:12810727). NA Belongs to the C/M/P thioester hydrolase family. Primary bile acid biosynthesis;Taurine and hypotaurine metabolism;Biosynthesis of unsaturated fatty acids;Metabolic pathways;Peroxisome;Bile secretion;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Recycling of bile acids and salts;Peroxisomal protein import PE1 9 +NX_Q14050 Collagen alpha-3(IX) chain 684 63616 7.58 0 Nucleoplasm;Extracellular matrix;Cytoskeleton Intervertebral disc disease;Multiple epiphyseal dysplasia 3 Structural component of hyaline cartilage and vitreous of the eye. Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links.;Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. Protein digestion and absorption;Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Collagen chain trimerization PE1 20 +NX_Q14055 Collagen alpha-2(IX) chain 689 65131 9.23 0 Nucleoplasm;Extracellular matrix;Cytoplasmic vesicle Multiple epiphyseal dysplasia 2;Intervertebral disc disease;Stickler syndrome 5 Structural component of hyaline cartilage and vitreous of the eye. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.;Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links. Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. Protein digestion and absorption;Signaling by PDGF;NCAM1 interactions;Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Collagen chain trimerization PE1 1 +NX_Q14061 Cytochrome c oxidase copper chaperone 63 6915 6.8 0 Cytoplasm;Mitochondrion intermembrane space;Mitochondrion NA Copper metallochaperone essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase. Binds two copper ions and delivers them to the metallochaperone SCO1 which transports the copper ions to the Cu(A) site on the cytochrome c oxidase subunit II (MT-CO2/COX2). NA Belongs to the COX17 family. Oxidative phosphorylation;Metabolic pathways;Mitochondrial protein import PE1 3 +NX_Q14088 Ras-related protein Rab-33A 237 26593 8.07 0 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA NA NA Belongs to the small GTPase superfamily. Rab family. TBC/RABGAPs;RAB geranylgeranylation PE1 X +NX_Q14093 Cylicin-2 348 39079 9.74 0 Calyx NA Possible architectural role during spermatogenesis. May be involved in spermatid differentiation. NA NA NA PE1 9 +NX_Q14094 Cyclin-I 377 42557 8.23 0 Golgi apparatus;Nucleoplasm;Nucleus NA NA NA Belongs to the cyclin family. NA PE1 4 +NX_Q14103 Heterogeneous nuclear ribonucleoprotein D0 355 38434 7.61 0 Nucleoplasm;Cytoplasm;Nucleus NA Binds with high affinity to RNA molecules that contain AU-rich elements (AREs) found within the 3'-UTR of many proto-oncogenes and cytokine mRNAs. Also binds to double- and single-stranded DNA sequences in a specific manner and functions a transcription factor. Each of the RNA-binding domains specifically can bind solely to a single-stranded non-monotonous 5'-UUAG-3' sequence and also weaker to the single-stranded 5'-TTAGGG-3' telomeric DNA repeat. Binds RNA oligonucleotides with 5'-UUAGGG-3' repeats more tightly than the telomeric single-stranded DNA 5'-TTAGGG-3' repeats. Binding of RRM1 to DNA inhibits the formation of DNA quadruplex structure which may play a role in telomere elongation. May be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. May play a role in the regulation of the rhythmic expression of circadian clock core genes. Directly binds to the 3'UTR of CRY1 mRNA and induces CRY1 rhythmic translation. May also be involved in the regulation of PER2 translation. Arg-345 is dimethylated, probably to asymmetric dimethylarginine.;Methylated by PRMT1, in an insulin-dependent manner. The PRMT1-mediated methylation regulates tyrosine phosphorylation (By similarity).;HNRNPD is phosphorylated by MAPK3 NA AUF1 (hnRNP D0) binds and destabilizes mRNA;mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA PE1 4 +NX_Q14106 Protein Tob2 344 36632 6.45 0 Cytoplasm;Cytosol NA Anti-proliferative protein inhibits cell cycle progression from the G0/G1 to S phases. NA Belongs to the BTG family. RNA degradation PE1 22 +NX_Q14108 Lysosome membrane protein 2 478 54290 5 2 Cytosol;Lysosome membrane Epilepsy, progressive myoclonic 4, with or without renal failure Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting.;(Microbial infection) Acts as a receptor for enterovirus 71. NA Belongs to the CD36 family. Lysosome;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 4 +NX_Q14112 Nidogen-2 1375 151254 5.09 0 Basement membrane;Cell membrane NA Cell adhesion glycoprotein which is widely distributed in basement membranes. Binds to collagens I and IV, to perlecan and to laminin 1. Does not bind fibulins. It probably has a role in cell-extracellular matrix interactions. Highly N- and O-glycosylated. NA Laminin interactions PE1 14 +NX_Q14114 Low-density lipoprotein receptor-related protein 8 963 105634 4.88 1 Secreted;Cell membrane Myocardial infarction 1 Cell surface receptor for Reelin (RELN) and apolipoprotein E (apoE)-containing ligands. LRP8 participates in transmitting the extracellular Reelin signal to intracellular signaling processes, by binding to DAB1 on its cytoplasmic tail. Reelin acts via both the VLDL receptor (VLDLR) and LRP8 to regulate DAB1 tyrosine phosphorylation and microtubule function in neurons. LRP8 has higher affinity for Reelin than VLDLR. LRP8 is thus a key component of the Reelin pathway which governs neuronal layering of the forebrain during embryonic brain development. Binds the endoplasmic reticulum resident receptor-associated protein (RAP). Binds dimers of beta 2-glycoprotein I and may be involved in the suppression of platelet aggregation in the vasculature. Highly expressed in the initial segment of the epididymis, where it affects the functional expression of clusterin and phospholipid hydroperoxide glutathione peroxidase (PHGPx), two proteins required for sperm maturation. May also function as an endocytic receptor. Not required for endocytic uptake of SEPP1 in the kidney which is mediated by LRP2 (By similarity). Together with its ligand, apolipoprotein E (apoE), may indirectly play a role in the suppression of the innate immune response by controlling the survival of myeloid-derived suppressor cells (By similarity). Ubiquitinated by MYLIP leading to degradation.;Tyrosine phosphorylated upon apoE binding.;Undergoes sequential, furin and gamma-secretase dependent, proteolytic processing, resulting in the extracellular release of the entire ligand-binding domain as a soluble polypeptide and in the intracellular domain (ICD) release into the cytoplasm. The gamma-secretase-dependent proteolytical processing occurs after the bulk of the extracellular domain has been shed, in a furin-dependent manner, in alternatively spliced isoforms carrying the furin cleavage site. Hypoglycosylation (mainly hypo-O-glycosylation) leads to increased extracellular cleavage, which in turn results in accelerating release of the intracellular domain (ICD) by the gamma-secretase. The resulting receptor fragment is able to inhibit Reelin signaling and in particular the Reelin-induced DAB1 phosphorylation (By similarity).;O-glycosylated. Some alternatively spliced isoforms lack the O-linked sugar domain (By similarity). Belongs to the LDLR family. Retinoid metabolism and transport;Platelet sensitization by LDL PE1 1 +NX_Q14116 Interleukin-18 193 22326 4.54 0 Golgi apparatus;Nucleoplasm;Cytosol;Secreted NA A proinflammatory cytokine primarily involved in polarized T-helper 1 (Th1) cell and natural killer (NK) cell immune responses (Probable). Upon binding to IL18R1 and IL18RAP, forms a signaling ternary complex which activates NF-kappa-B, triggering synthesis of inflammatory mediators (PubMed:14528293, PubMed:25500532). Synergizes with IL12/interleukin-12 to induce IFNG synthesis from T-helper 1 (Th1) cells and natural killer (NK) cells (Probable) (PubMed:10653850). The pro-IL-18 precursor is processed by CASP1 or CASP4 to yield the active form. Belongs to the IL-1 family. Cytokine-cytokine receptor interaction;NOD-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Salmonella infection;Legionellosis;African trypanosomiasis;Malaria;Tuberculosis;Influenza A;Rheumatoid arthritis;Interleukin-1 processing;Interleukin-4 and Interleukin-13 signaling;Interleukin-10 signaling;Interleukin-18 signaling PE1 11 +NX_Q14117 Dihydropyrimidinase 519 56630 6.81 0 NA Dihydropyrimidinase deficiency Catalyzes the second step of the reductive pyrimidine degradation, the reversible hydrolytic ring opening of dihydropyrimidines. Can catalyze the ring opening of 5,6-dihydrouracil to N-carbamyl-alanine and of 5,6-dihydrothymine to N-carbamyl-amino isobutyrate. Carboxylation allows a single lysine to coordinate two zinc ions. Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family. Pyrimidine metabolism;beta-Alanine metabolism;Pantothenate and CoA biosynthesis;Drug metabolism - other enzymes;Metabolic pathways;Pyrimidine catabolism PE1 8 +NX_Q14118 Dystroglycan 895 97441 8.71 1 Cell membrane;Postsynaptic cell membrane;Nucleoplasm;Extracellular space;Cytoplasmic vesicle;Sarcolemma;Cytoskeleton Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9;Muscular dystrophy-dystroglycanopathy limb-girdle C9 The dystroglycan complex is involved in a number of processes including laminin and basement membrane assembly, sarcolemmal stability, cell survival, peripheral nerve myelination, nodal structure, cell migration, and epithelial polarization.;Beta-dystroglycan is a transmembrane protein that plays important roles in connecting the extracellular matrix to the cytoskeleton. Acts as a cell adhesion receptor in both muscle and non-muscle tissues. Receptor for both DMD and UTRN and, through these interactions, scaffolds axin to the cytoskeleton. Also functions in cell adhesion-mediated signaling and implicated in cell polarity.;(Microbial infection) Alpha-dystroglycan acts as a receptor for lassa virus and lymphocytic choriomeningitis virus glycoprotein and class C new-world arenaviruses (PubMed:16254364, PubMed:19324387, PubMed:17360738). Alpha-dystroglycan acts as a Schwann cell receptor for Mycobacterium leprae, the causative organism of leprosy, but only in the presence of the G-domain of LAMA2 (PubMed:9851927).;Alpha-dystroglycan is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin-G domains. Receptor for laminin-2 (LAMA2) and agrin in peripheral nerve Schwann cells. Autolytic cleavage produces the alpha and beta subunits. In cutaneous cells, as well as in certain pathological conditions, shedding of beta-dystroglcan can occur releasing a peptide of about 30 kDa.;The beta subunit is N-glycosylated.;SRC-mediated phosphorylation of the PPXY motif of the beta subunit recruits SH2 domain-containing proteins, but inhibits binding to WWW domain-containing proteins, DMD and UTRN. This phosphorylation also inhibits nuclear entry.;O-glycosylated. POMGNT1 catalyzes the initial addition of N-acetylglucosamine, giving rise to the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety and thus providing the necessary basis for the addition of further carbohydrate moieties (PubMed:27493216). Alpha-dystroglycan is heavily O-glycosylated comprising of up to two thirds of its mass and the carbohydrate composition differs depending on tissue type. Mucin-type O-glycosylation is important for ligand binding activity. O-mannosylation of alpha-DAG1 is found in high abundance in both brain and muscle where the most abundant glycan is Sia-alpha-2-3-Gal-beta-1-4-Glc-NAc-beta-1-2-Man. In muscle, glycosylation on Thr-317, Thr-319 and Thr-379 by a phosphorylated O-mannosyl glycan with the structure 2-(N-acetylamido)-2-deoxygalactosyl-beta-1,3-2-(N-acetylamido)-2-deoxyglucosyl-beta-1,4-6-phosphomannose is mediated by like-acetylglucosaminyltransferase (LARGE1) protein and is required for laminin binding (PubMed:20044576, PubMed:21987822, PubMed:24256719). O-mannosylation is also required for binding lymphocytic choriomeningitis virus, Old World Lassa fever virus, and clade C New World arenaviruses. The O-glycosyl hexose on Thr-367, Thr-369, Thr-372, Thr-381 and Thr-388 is probably mannose. O-glycosylated in the N-terminal region with a core 1 or possibly core 8 glycan. NA ECM-receptor interaction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Viral myocarditis;ECM proteoglycans;Non-integrin membrane-ECM interactions;Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2;O-linked glycosylation;Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3;Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1;Regulation of expression of SLITs and ROBOs PE1 3 +NX_Q14119 Vascular endothelial zinc finger 1 521 56931 9.62 0 Nucleoplasm;Nucleus NA Possible transcription factor. Specifically binds to the CT/GC-rich region of the interleukin-3 promoter and mediates tax transactivation of IL-3. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 17 +NX_Q14123 Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C 709 80760 8.88 0 Nucleoplasm Deafness, autosomal dominant, 74 Calmodulin-dependent cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:8557689, PubMed:29860631). Has a high affinity for both cAMP and cGMP (PubMed:8557689). Modulates the amplitude and duration of the cAMP signal in sensory cilia in response to odorant stimulation, hence contributing to the generation of action potentials. Regulates smooth muscle cell proliferation. Regulates the stability of growth factor receptors, including PDGFRB (Probable). NA Belongs to the cyclic nucleotide phosphodiesterase family. PDE1 subfamily. Purine metabolism;Calcium signaling pathway;Olfactory transduction;Cam-PDE 1 activation PE1 7 +NX_Q14126 Desmoglein-2 1118 122294 5.13 1 Cell junction;Desmosome;Cell membrane Cardiomyopathy, dilated 1BB;Arrhythmogenic right ventricular dysplasia, familial, 10 Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. NA NA Arrhythmogenic right ventricular cardiomyopathy (ARVC);Apoptotic cleavage of cell adhesion proteins;Formation of the cornified envelope;Keratinization PE1 18 +NX_Q14129 Protein DGCR6 220 24989 7.02 0 Nucleus NA May play a role in neural crest cell migration into the third and fourth pharyngeal pouches. NA Belongs to the gonadal family. NA PE1 22 +NX_Q14134 Tripartite motif-containing protein 29 588 65835 6.73 0 Cytoplasm;Nucleoplasm;Cytoskeleton;Lysosome NA Plays a crucial role in the regulation of macrophage activation in response to viral or bacterial infections within the respiratory tract. Mechanistically, TRIM29 interacts with IKBKG/NEMO in the lysosome where it induces its 'Lys-48' ubiquitination and subsequent degradation. In turn, the expression of type I interferons and the production of proinflammatory cytokines are inhibited. Additionally, induces the 'Lys-48' ubiquitination of TMEM173/STING in a similar way, leading to its degradation. Constitutively phosphorylated by PKC on serine/threonine in A431 cells. NA Interferon gamma signaling PE1 11 +NX_Q14135 Transcription cofactor vestigial-like protein 4 290 30948 8.49 0 Nucleoplasm;Nucleolus;Nucleus NA May act as a specific coactivator for the mammalian TEFs. NA Belongs to the vestigial family. NA PE1 3 +NX_Q14137 Ribosome biogenesis protein BOP1 746 83630 5.8 0 Nucleoplasm;Nucleolus NA Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome. NA Belongs to the WD repeat BOP1/ERB1 family. Major pathway of rRNA processing in the nucleolus and cytosol PE1 8 +NX_Q14139 Ubiquitin conjugation factor E4 A 1066 122561 5.11 0 Cytoplasm;Nucleus speckle NA Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases. May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase. Mediates 'Lys-48'-linked polyubiquitination of substrates. NA Belongs to the ubiquitin conjugation factor E4 family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation PE1 11 +NX_Q14140 SERTA domain-containing protein 2 314 33897 4.42 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Acts at E2F-responsive promoters as coregulator to integrate signals provided by PHD- and/or bromodomain-containing transcription factors. May act as coactivator as well as corepressor of E2F1-TFDP1 and E2F4-TFDP1 complexes on E2F consensus binding sites, which would activate or inhibit E2F-target genes expression. Modulates fat storage by down-regulating the expression of key genes involved in adipocyte lipolysis, thermogenesis and oxidative metabolism. Polyubiquitinated, which promotes proteasomal degradation. NA NA PE1 2 +NX_Q14141 Septin-6 434 49717 6.24 0 Kinetochore;Cytoplasm;Cleavage furrow;Flagellum;Spindle;Midbody NA Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Involved in cytokinesis. May play a role in HCV RNA replication. Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. NA PE1 X +NX_Q14142 Tripartite motif-containing protein 14 442 49773 8.13 0 Mitochondrion outer membrane;Nucleoplasm;Cytosol NA Plays a role in the innate immune defense against viruses. Facilitates the type I IFN response by interacting with MAVS at the outer mitochondria membrane and thereby recruiting NF-kappa-B essential modulator IKBKG/NEMO to the MAVS signalosome, leading to the activation of both the IFN regulatory factor 3/IRF3 and NF-kappa-B pathways (PubMed:24379373). Positively regulates the CGAS-induced type I interferon signaling pathway by stabilizing CGAS and inhibiting its autophagic degradation (PubMed:27666593). Ubiquitinated (PubMed:24379373). Undergoes 'Lys-63'-linked polyubiquitination; this modification allows IKBKG/NEMO recruitment to MAVS. Belongs to the TRIM/RBCC family. Interferon gamma signaling PE1 9 +NX_Q14145 Kelch-like ECH-associated protein 1 624 69666 6 0 Cytoplasm;Centriolar satellite;Nucleoplasm;Cytosol;Nucleus NA Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that regulates the response to oxidative stress by targeting NFE2L2/NRF2 for ubiquitination (PubMed:14585973, PubMed:15379550, PubMed:15572695, PubMed:15983046, PubMed:15601839). KEAP1 acts as a key sensor of oxidative and electrophilic stress: in normal conditions, the BCR(KEAP1) complex mediates ubiquitination and degradation of NFE2L2/NRF2, a transcription factor regulating expression of many cytoprotective genes (PubMed:15601839, PubMed:16006525). In response to oxidative stress, different electrophile metabolites trigger non-enzymatic covalent modifications of highly reactive cysteine residues in KEAP1, leading to inactivate the ubiquitin ligase activity of the BCR(KEAP1) complex, promoting NFE2L2/NRF2 nuclear accumulation and expression of phase II detoxifying enzymes (PubMed:19489739, PubMed:16006525, PubMed:17127771, PubMed:18251510, PubMed:29590092). In response to selective autophagy, KEAP1 is sequestered in inclusion bodies following its interaction with SQSTM1/p62, leading to inactivation of the BCR(KEAP1) complex and activation of NFE2L2/NRF2 (PubMed:20452972). The BCR(KEAP1) complex also mediates ubiquitination of SQSTM1/p62, increasing SQSTM1/p62 sequestering activity and degradation (PubMed:28380357). The BCR(KEAP1) complex also targets BPTF and PGAM5 for ubiquitination and degradation by the proteasome (PubMed:15379550, PubMed:17046835). Degraded via a proteasomal-independent process during selective autophagy: interaction with phosphorylated SQSTM1/p62 sequesters KEAP1 in inclusion bodies, leading to its degradation.;Auto-ubiquitinated by the BCR(KEAP1) complex (PubMed:15572695, PubMed:15983046). Quinone-induced oxidative stress, but not sulforaphane, increases its ubiquitination (PubMed:15572695, PubMed:15983046). Ubiquitination and subsequent degradation is most pronounced following prolonged exposure of cells to oxidative stress, particularly in glutathione-deficient cells that are highly susceptible to oxidative stress (PubMed:15572695, PubMed:15983046).;Non-enzymatic covalent modifications of reactive cysteines by electrophile metabolites inactivate the BCR(KEAP1) complex (PubMed:17127771, PubMed:18251510, PubMed:29590092, PubMed:30323285). Accumulation of fumarate promotes the formation of cysteine S-succination (S-(2-succinyl)cysteine), leading to inactivate the BCR(KEAP1) complex and promote NFE2L2/NRF2 nuclear accumulation and activation (By similarity). Nitric oxide-dependent 8-Nitro-cGMP formation promotes cysteine guanylation (S-cGMP-cysteine), leading to NFE2L2/NRF2 nuclear accumulation and activation (By similarity). Itaconate, an anti-inflammatory metabolite generated in response to lipopolysaccharide, alkylates cysteines, activating NFE2L2/NRF2 (PubMed:29590092). Methylglyoxal, a reactive metabolite that accumulates when the glycolytic enzyme PGK1 is inhibited, promotes formation of a methylimidazole cross-link between proximal Cys-151 and Arg-135 on another KEAP1 molecule, resulting in an inactive dimer that inactivates the BCR(KEAP1) complex (PubMed:30323285). Belongs to the KEAP1 family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Ub-specific processing proteases;Neddylation PE1 19 +NX_Q14146 Unhealthy ribosome biogenesis protein 2 homolog 1524 170544 6.97 0 Nucleolus NA NA NA NA NA PE1 1 +NX_Q14147 Probable ATP-dependent RNA helicase DHX34 1143 128120 7.37 0 Nucleoplasm;Cytoskeleton NA Probable ATP-binding RNA helicase. NA Belongs to the DEAD box helicase family. DEAH subfamily. NA PE1 19 +NX_Q14149 MORC family CW-type zinc finger protein 3 939 107113 5.42 0 Nucleoplasm;Nucleus matrix;Mitochondrion;PML body NA Nuclear factor which forms MORC3-NBs (nuclear bodies) via an ATP-dependent mechanism (PubMed:20501696). Sumoylated MORC3-NBs can also associate with PML-NBs (PubMed:20501696). Recruits TP53 and SP100 to PML-NBs, thus regulating TP53 activity (PubMed:17332504). Binds RNA in vitro (PubMed:11927593). May be required for influenza A transcription during viral infection (PubMed:26202233). Sumoylation is involved in interaction with PML and localization to PML nuclear bodies. NA NA PE1 21 +NX_Q14151 Scaffold attachment factor B2 953 107473 5.84 0 Cytoplasm;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Binds to scaffold/matrix attachment region (S/MAR) DNA. Can function as an estrogen receptor corepressor and can also inhibit cell proliferation. NA NA NA PE1 19 +NX_Q14152 Eukaryotic translation initiation factor 3 subunit A 1382 166569 6.38 0 Cytoplasm;Nucleoplasm;Cytosol NA (Microbial infection) In case of FCV infection, plays a role in the ribosomal termination-reinitiation event leading to the translation of VP2 (PubMed:18056426).;(Microbial infection) Essential for the initiation of translation on type-1 viral ribosomal entry sites (IRESs), like for HCV, PV, EV71 or BEV translation (PubMed:23766293, PubMed:24357634).;RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632, PubMed:11169732). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773, PubMed:27462815). Phosphorylated. Phosphorylation is enhanced upon serum stimulation. Belongs to the eIF-3 subunit A family. RNA transport;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit PE1 10 +NX_Q14153 Protein FAM53B 422 45768 6.33 0 Cytosol;Nucleus NA Acts as a regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) nuclear localization. NA Belongs to the FAM53 family. NA PE1 10 +NX_Q14154 DAP3-binding cell death enhancer 1 515 55920 9.37 0 Golgi apparatus;Nucleoplasm;Mitochondrion NA Essential for the induction of death receptor-mediated apoptosis through the regulation of caspase activation. NA NA NA PE1 5 +NX_Q14155 Rho guanine nucleotide exchange factor 7 803 90012 6.66 0 Ruffle;Lamellipodium;Cell cortex;Focal adhesion NA Acts as a RAC1 guanine nucleotide exchange factor (GEF) and can induce membrane ruffling. Functions in cell migration, attachment and cell spreading. Promotes targeting of RAC1 to focal adhesions (By similarity). May function as a positive regulator of apoptosis. Downstream of NMDA receptors and CaMKK-CaMK1 signaling cascade, promotes the formation of spines and synapses in hippocampal neurons. Phosphorylated by PTK2/FAK1; this promotes interaction with RAC1 (By similarity). Phosphorylated on Ser-694 by CaMK1; enhancement of GEF activity and downstream activation of RAC1.;ARHGEF7 is phosphorylated by LRRK2 NA Regulation of actin cytoskeleton;Ephrin signaling;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events;EGFR downregulation;Activation of RAC1 downstream of NMDARs PE1 13 +NX_Q14156 Protein EFR3 homolog A 821 92924 6.24 0 Cytosol;Cell membrane NA Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:25608530, PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, EFR3A probably acts as the membrane-anchoring component (PubMed:23229899). Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect (PubMed:25380825). Palmitoylated at its N-terminus, anchoring the protein to the plasma membrane. Belongs to the EFR3 family. NA PE1 8 +NX_Q14157 Ubiquitin-associated protein 2-like 1087 114535 6.61 0 Cytosol;Nucleus speckle NA Plays an important role in the activity of long-term repopulating hematopoietic stem cells (LT-HSCs). Acetylated. NA NA PE1 1 +NX_Q14159 DNA repair-scaffolding protein 915 100316 6.22 0 Nucleoplasm;Nucleus NA Plays a role in DNA double-strand break (DBS) repair via homologous recombination (HR). Serves as a scaffolding protein that helps to promote the recruitment of DNA-processing enzymes like the helicase BLM and recombinase RAD51 to site of DNA damage, and hence contributes to maintain genomic integrity. NA NA Resolution of D-loop Structures through Holliday Junction Intermediates PE1 8 +NX_Q14160 Protein scribble homolog 1630 174885 5.01 0 Cytoplasm;Cell membrane;Adherens junction;Postsynapse;Cell junction;Nucleoplasm;Presynapse;Lamellipodium Neural tube defects Scaffold protein involved in different aspects of polarized cells differentiation regulating epithelial and neuronal morphogenesis. Most probably functions in the establishment of apico-basal cell polarity. May function in cell proliferation regulating progression from G1 to S phase and as a positive regulator of apoptosis for instance during acinar morphogenesis of the mammary epithelium. May also function in cell migration and adhesion and hence regulate cell invasion through MAPK signaling. May play a role in exocytosis and in the targeting synaptic vesicles to synapses. Functions as an activator of Rac GTPase activity. Ubiquitinated; targeted for UBE3A-dependent multiubiquitination in the presence of high-risk HPV E6 proteins and degraded. Belongs to the LAP (LRR and PDZ) protein family. Asymmetric localization of PCP proteins PE1 8 +NX_Q14161 ARF GTPase-activating protein GIT2 759 84543 6.78 0 Cytoskeleton NA GTPase-activating protein for the ADP ribosylation factor family. NA NA Endocytosis PE1 12 +NX_Q14162 Scavenger receptor class F member 1 830 87387 5.98 1 Membrane NA Mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). Mediates heterophilic interactions, suggesting a function as adhesion protein. Plays a role in the regulation of neurite-like outgrowth (By similarity). NA NA Scavenging by Class F Receptors PE1 17 +NX_Q14164 Inhibitor of nuclear factor kappa-B kinase subunit epsilon 716 80462 7.91 0 Cytoplasm;Cytosol;PML body;Nucleus NA Serine/threonine kinase that plays an essential role in regulating inflammatory responses to viral infection, through the activation of the type I IFN, NF-kappa-B and STAT signaling. Also involved in TNFA and inflammatory cytokines, like Interleukin-1, signaling. Following activation of viral RNA sensors, such as RIG-I-like receptors, associates with DDX3X and phosphorylates interferon regulatory factors (IRFs), IRF3 and IRF7, as well as DDX3X. This activity allows subsequent homodimerization and nuclear translocation of the IRF3 leading to transcriptional activation of pro-inflammatory and antiviral genes including IFNB. In order to establish such an antiviral state, IKBKE forms several different complexes whose composition depends on the type of cell and cellular stimuli. Thus, several scaffolding molecules including IPS1/MAVS, TANK, AZI2/NAP1 or TBKBP1/SINTBAD can be recruited to the IKBKE-containing-complexes. Activated by polyubiquitination in response to TNFA and interleukin-1, regulates the NF-kappa-B signaling pathway through, at least, the phosphorylation of CYLD. Phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor. In addition, is also required for the induction of a subset of ISGs which displays antiviral activity, may be through the phosphorylation of STAT1 at 'Ser-708'. Phosphorylation of STAT1 at 'Ser-708' seems also to promote the assembly and DNA binding of ISGF3 (STAT1:STAT2:IRF9) complexes compared to GAF (STAT1:STAT1) complexes, in this way regulating the balance between type I and type II IFN responses. Protects cells against DNA damage-induced cell death. Also plays an important role in energy balance regulation by sustaining a state of chronic, low-grade inflammation in obesity, wich leads to a negative impact on insulin sensitivity. Phosphorylates AKT1. Sumoylation by TOPORS upon DNA damage is required for protection of cells against DNA damage-induced cell death. Desumoylated by SENP1.;'Lys-63'-linked polyubiquitinated at Lys-30 and Lys-401 by TRAF2:BIRC2 and TRAF2:BIRC3 complexes. Ubiquitination is induced by LPS, TNFA and interleukin-1 and required for full kinase activity and KF-kappa-B pathway activation.;Autophosphorylated and phosphorylated by IKBKB/IKKB. Phosphorylation at Ser-172 is enhanced by the interaction with DDX3X. Phosphorylated at Thr-501 upon IFN activation.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. I-kappa-B kinase subfamily. Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Hepatitis C;Measles;Influenza A;Herpes simplex infection;TRAF6 mediated IRF7 activation;Negative regulators of DDX58/IFIH1 signaling;TRAF3-dependent IRF activation pathway;Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;TICAM1-dependent activation of IRF3/IRF7;SUMOylation of immune response proteins PE1 1 +NX_Q14165 Malectin 292 32234 5.27 1 Endoplasmic reticulum membrane NA Carbohydrate-binding protein with a strong ligand preference for Glc2-N-glycan. May play a role in the early steps of protein N-glycosylation (By similarity). NA Belongs to the malectin family. N-glycan trimming in the ER and Calnexin/Calreticulin cycle;Neutrophil degranulation PE1 12 +NX_Q14166 Tubulin--tyrosine ligase-like protein 12 644 74404 5.33 0 Cytoplasm;Cell membrane;Centrosome;Cytosol;Nucleus;Spindle;Midbody NA Negatively regulates post-translational modifications of tubulin, including detyrosination of the C-terminus and polyglutamylation of glutamate residues (PubMed:20162578, PubMed:23251473). Also, indirectly promotes histone H4 trimethylation at 'Lys-20' (H4K20me3) (PubMed:23251473). Probably by controlling tubulin and/or histone H4 post-translational modifications, plays a role in mitosis and in maintaining chromosome number stability (PubMed:20162578, PubMed:23251473). During RNA virus-mediated infection, acts as a negative regulator of the DDX58/RIG-I pathway by preventing MAVS binding to TBK1 and IKBKE (PubMed:28011935). NA Belongs to the tubulin--tyrosine ligase family. Carboxyterminal post-translational modifications of tubulin PE1 22 +NX_Q14168 MAGUK p55 subfamily member 2 576 64581 6.32 0 Mitochondrion;Membrane;Postsynaptic density;Cytosol;Dendrite;Cytoskeleton NA Postsynaptic MAGUK scaffold protein that links CADM1 cell adhesion molecules to core components of the postsynaptic density (By similarity). In CA1 pyramidal neurons, required for synaptic KCNN2-containing channel function and long-term potentiation expression (By similarity). Seems to negatively regulate SRC function in epithelial cells (PubMed:19665017). Phosphorylated by SRC. Belongs to the MAGUK family. NA PE1 17 +NX_Q14181 DNA polymerase alpha subunit B 598 65948 5.13 0 Nucleoplasm;Nucleus NA May play an essential role at the early stage of chromosomal DNA replication by coupling the polymerase alpha/primase complex to the cellular replication machinery. Phosphorylated in a cell cycle-dependent manner, in G2/M phase. Belongs to the DNA polymerase alpha subunit B family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;DNA replication;Activation of the pre-replicative complex;Inhibition of replication initiation of damaged DNA by RB1/E2F1;Polymerase switching on the C-strand of the telomere;Polymerase switching;Removal of the Flap Intermediate;Processive synthesis on the lagging strand;Telomere C-strand synthesis initiation;DNA replication initiation PE1 11 +NX_Q14183 Double C2-like domain-containing protein alpha 400 43959 6.83 0 Synaptosome;Cell junction;Nucleolus;Nucleoplasm;Synaptic vesicle membrane;Lysosome NA Calcium sensor which most probably regulates fusion of vesicles with membranes. Binds calcium and phospholipids. May be involved in calcium dependent neurotransmitter release through the interaction with UNC13A. May be involved in calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells. NA NA NA PE1 16 +NX_Q14184 Double C2-like domain-containing protein beta 412 45922 8.25 0 Cytoplasm;Cytoplasmic granule;Cell membrane NA Calcium sensor which positively regulates SNARE-dependent fusion of vesicles with membranes. Binds phospholipids in a calcium-dependent manner and may act at the priming stage of fusion by modifying membrane curvature to stimulate fusion. Involved in calcium-triggered exocytosis in chromaffin cells and calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Involved both in glucose-stimulated insulin secretion in pancreatic cells and insulin-dependent GLUT4 transport to the plasma membrane in adipocytes (By similarity). NA NA NA PE1 17 +NX_Q14185 Dedicator of cytokinesis protein 1 1865 215346 7.29 0 Membrane;Nucleoplasm;Cytoplasm NA Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Along with DOCK1, mediates CRK/CRKL regulation of epithelial and endothelial cell spreading and migration on type IV collagen (PubMed:19004829). Functions as a guanine nucleotide exchange factor (GEF), which activates Rac Rho small GTPases by exchanging bound GDP for free GTP. Its GEF activity may be enhanced by ELMO1 (PubMed:8657152). NA Belongs to the DOCK family. Focal adhesion;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Shigellosis;Regulation of actin dynamics for phagocytic cup formation;Factors involved in megakaryocyte development and platelet production;VEGFA-VEGFR2 Pathway;DCC mediated attractive signaling;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases PE1 10 +NX_Q14186 Transcription factor Dp-1 410 45070 5.74 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Can stimulate E2F-dependent transcription. Binds DNA cooperatively with E2F family members through the E2 recognition site, 5'-TTTC[CG]CGC-3', found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication (PubMed:8405995, PubMed:7739537). The E2F1:DP complex appears to mediate both cell proliferation and apoptosis. Blocks adipocyte differentiation by repressing CEBPA binding to its target gene promoters (PubMed:20176812). Phosphorylation by E2F1-bound cyclin A-CDK2, in the S phase, inhibits E2F-mediated DNA binding and transactivation.;Ubiquitinated by the BCR(KBTBD5) complex, leading to its subsequent degradation.;TFDP1 is phosphorylated by NLK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the E2F/DP family. Cell cycle;TGF-beta signaling pathway;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Oxidative Stress Induced Senescence;G0 and Early G1;G1/S-Specific Transcription;Pre-NOTCH Transcription and Translation;Cyclin E associated events during G1/S transition;Oncogene Induced Senescence;Cyclin A:Cdk2-associated events at S phase entry;Inhibition of replication initiation of damaged DNA by RB1/E2F1;Cyclin D associated events in G1;Activation of PUMA and translocation to mitochondria;Activation of NOXA and translocation to mitochondria;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;Transcription of E2F targets under negative control by DREAM complex;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1;Transcriptional Regulation by E2F6;Transcriptional regulation of granulopoiesis PE1 13 +NX_Q14188 Transcription factor Dp-2 446 49236 6.17 0 Nucleoplasm;Spindle;Nucleus;Cytoplasmic vesicle NA Can stimulate E2F-dependent transcription. Binds DNA cooperatively with E2F family members through the E2 recognition site, 5'-TTTC[CG]CGC-3', found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The TFDP2:E2F complex functions in the control of cell-cycle progression from G1 to S phase. The E2F1:DP complex appears to mediate both cell proliferation and apoptosis. Blocks adipocyte differentiation by repressing CEBPA binding to its target gene promoters (PubMed:20176812). Ser-24 is probably phosphorylated by CDK2. Belongs to the E2F/DP family. Cell cycle;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Oxidative Stress Induced Senescence;G0 and Early G1;G1/S-Specific Transcription;Pre-NOTCH Transcription and Translation;Cyclin E associated events during G1/S transition;Oncogene Induced Senescence;Cyclin A:Cdk2-associated events at S phase entry;Inhibition of replication initiation of damaged DNA by RB1/E2F1;Cyclin D associated events in G1;Activation of PUMA and translocation to mitochondria;Activation of NOXA and translocation to mitochondria;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;Transcription of E2F targets under negative control by DREAM complex;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1;Transcriptional Regulation by E2F6;Transcriptional regulation of granulopoiesis PE1 3 +NX_Q14190 Single-minded homolog 2 667 73219 9.03 0 Nucleoplasm;Nucleus NA Transcription factor that may be a master gene of CNS development in cooperation with Arnt. It may have pleiotropic effects in the tissues expressed during development. NA NA NA PE1 21 +NX_Q14191 Werner syndrome ATP-dependent helicase 1432 162461 5.96 0 Nucleoplasm;Nucleolus;Nucleus speckle;Nucleus Colorectal cancer;Werner syndrome Multifunctional enzyme that has both magnesium and ATP-dependent DNA-helicase activity and 3'->5' exonuclease activity towards double-stranded DNA with a 5'-overhang. Has no nuclease activity towards single-stranded DNA or blunt-ended double-stranded DNA. Binds preferentially to DNA substrates containing alternate secondary structures, such as replication forks and Holliday junctions. May play an important role in the dissociation of joint DNA molecules that can arise as products of homologous recombination, at stalled replication forks or during DNA repair. Alleviates stalling of DNA polymerases at the site of DNA lesions. Important for genomic integrity. Plays a role in the formation of DNA replication focal centers; stably associates with foci elements generating binding sites for RP-A (By similarity). Plays a role in double-strand break repair after gamma-irradiation. Phosphorylated by PRKDC.;WRN is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255) Belongs to the helicase family. RecQ subfamily. SUMOylation of DNA damage response and repair proteins;G2/M DNA damage checkpoint;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Regulation of TP53 Activity through Phosphorylation PE1 8 +NX_Q14192 Four and a half LIM domains protein 2 279 32193 7.8 0 Cytoplasm;Focal adhesion;Z line;Nucleus;Cytoskeleton NA May function as a molecular transmitter linking various signaling pathways to transcriptional regulation. Negatively regulates the transcriptional repressor E4F1 and may function in cell growth. Inhibits the transcriptional activity of FOXO1 and its apoptotic function by enhancing the interaction of FOXO1 with SIRT1 and FOXO1 deacetylation. Negatively regulates the calcineurin/NFAT signaling pathway in cardiomyocytes (PubMed:28717008). NA NA Osteoclast differentiation;PPARA activates gene expression PE1 2 +NX_Q14194 Dihydropyrimidinase-related protein 1 572 62184 6.55 0 Cytoplasm;Cytosol;Spindle;Centrosome NA Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. May participate in cytokinesis. NA Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family. CRMPs in Sema3A signaling PE1 4 +NX_Q14195 Dihydropyrimidinase-related protein 3 570 61963 6.04 0 Cytoplasm;Cytosol;Growth cone NA Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, neuronal growth cone collapse and cell migration (By similarity). Phosphorylation on Ser-522 by DYRK2 promotes subsequent phosphorylation on Thr-509, Thr-514 and Ser-518 by GSK3. Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family. CRMPs in Sema3A signaling PE1 5 +NX_Q14197 Peptidyl-tRNA hydrolase ICT1, mitochondrial 206 23630 10.09 0 Nucleoplasm;Mitochondrion NA Essential peptidyl-tRNA hydrolase component of the mitochondrial large ribosomal subunit. Acts as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion, possibly in case of abortive elongation. May be involved in the hydrolysis of peptidyl-tRNAs that have been prematurely terminated and thus in the recycling of stalled mitochondrial ribosomes. NA Belongs to the prokaryotic/mitochondrial release factor family. Mitochondrion-specific ribosomal protein mL62 subfamily. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 17 +NX_Q14201 Protein BTG3 252 29116 9.12 0 NA NA Overexpression impairs serum-induced cell cycle progression from the G0/G1 to S phase. NA Belongs to the BTG family. RNA degradation PE1 21 +NX_Q14202 Zinc finger MYM-type protein 3 1370 152379 6.01 0 Nucleoplasm;Nucleus NA Plays a role in the regulation of cell morphology and cytoskeletal organization. NA NA NA PE1 X +NX_Q14203 Dynactin subunit 1 1278 141695 5.61 0 Cytoplasm;Cell cortex;Centriole;Centrosome;Nucleus envelope;Spindle;Cytoskeleton Amyotrophic lateral sclerosis;Perry syndrome;Neuronopathy, distal hereditary motor, 7B Plays a key role in dynein-mediated retrograde transport of vesicles and organelles along microtubules by recruiting and tethering dynein to microtubules. Binds to both dynein and microtubules providing a link between specific cargos, microtubules and dynein. Essential for targeting dynein to microtubule plus ends, recruiting dynein to membranous cargos and enhancing dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Can also act as a brake to slow the dynein motor during motility along the microtubule (PubMed:25185702). Can regulate microtubule stability by promoting microtubule formation, nucleation and polymerization and by inhibiting microtubule catastrophe in neurons. Inhibits microtubule catastrophe by binding both to microtubules and to tubulin, leading to enhanced microtubule stability along the axon (PubMed:23874158). Plays a role in metaphase spindle orientation (PubMed:22327364). Plays a role in centriole cohesion and subdistal appendage organization and function. Its recruitment to the centriole in a KIF3A-dependent manner is essential for the maintenance of centriole cohesion and the formation of subdistal appendage. Also required for microtubule anchoring at the mother centriole (PubMed:23386061). Plays a role in primary cilia formation (PubMed:25774020). Ubiquitinated by a SCF complex containing FBXL5, leading to its degradation by the proteasome.;Phosphorylation by SLK at Thr-145, Thr-146 and Thr-147 targets DCTN1 to the centrosome. It is uncertain if SLK phosphorylates all three threonines or one or two of them. PLK1-mediated phosphorylation at Ser-179 is essential for its localization in the nuclear envelope, promotes its dissociation from microtubules during early mitosis and positively regulates nuclear envelope breakdown during prophase.;DCTN1 is phosphorylated by PRKACA Belongs to the dynactin 150 kDa subunit family. Vasopressin-regulated water reabsorption;Huntington's disease;Anchoring of the basal body to the plasma membrane;MHC class II antigen presentation;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;XBP1(S) activates chaperone genes;Recruitment of NuMA to mitotic centrosomes;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;AURKA Activation by TPX2;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 2 +NX_Q14204 Cytoplasmic dynein 1 heavy chain 1 4646 532408 6.01 0 Cytoplasm;Cytosol;Centrosome;Cytoskeleton Charcot-Marie-Tooth disease 2O;Mental retardation, autosomal dominant 13;Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Plays a role in mitotic spindle assembly and metaphase plate congression (PubMed:27462074). NA Belongs to the dynein heavy chain family. Phagosome;Vasopressin-regulated water reabsorption;Salmonella infection;Separation of Sister Chromatids;Anchoring of the basal body to the plasma membrane;MHC class II antigen presentation;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Recruitment of NuMA to mitotic centrosomes;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;AURKA Activation by TPX2;Neutrophil degranulation;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 14 +NX_Q14206 Calcipressin-2 197 21997 5.84 0 Nucleoplasm;Mitochondrion NA Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development. NA Belongs to the RCAN family. NA PE1 6 +NX_Q14207 Protein NPAT 1427 154290 5.63 0 Cajal body;Nucleoplasm;Nucleus NA Required for progression through the G1 and S phases of the cell cycle and for S phase entry. Activates transcription of the histone H2A, histone H2B, histone H3 and histone H4 genes in conjunction with MIZF. Also positively regulates the ATM, MIZF and PRKDC promoters. Transcriptional activation may be accomplished at least in part by the recruitment of the NuA4 histone acetyltransferase (HAT) complex to target gene promoters. Phosphorylated at Ser-775, Ser-779, Ser-1100, Thr-1270 and Thr-1350 by CCNE1/CDK2 at G1-S transition and until prophase, which promotes association with histone gene clusters and stimulates activation of histone transcription. Also phosphorylated by CCNA1/CDK2 in vitro. Belongs to the NPAT family. NA PE1 11 +NX_Q14209 Transcription factor E2F2 437 47506 4.75 0 Nucleus NA Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from g1 to s phase. E2F2 binds specifically to RB1 in a cell-cycle dependent manner. Phosphorylated by CDK2 and cyclin A-CDK2 in the S-phase. Belongs to the E2F/DP family. Cell cycle;HTLV-I infection;Pathways in cancer;Pancreatic cancer;Glioma;Prostate cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;Oxidative Stress Induced Senescence;CDC6 association with the ORC:origin complex;Oncogene Induced Senescence;Cyclin D associated events in G1 PE1 1 +NX_Q14210 Lymphocyte antigen 6D 128 13286 8.59 0 Cell membrane NA May act as a specification marker at earliest stage specification of lymphocytes between B- and T-cell development. Marks the earliest stage of B-cell specification. NA NA Post-translational modification: synthesis of GPI-anchored proteins PE1 8 +NX_Q14213 Interleukin-27 subunit beta 229 25396 9.41 0 Secreted NA Associates with IL27 to form the IL-27 interleukin, a heterodimeric cytokine which functions in innate immunity. IL-27 has pro- and anti-inflammatory properties, that can regulate T-helper cell development, suppress T-cell proliferation, stimulate cytotoxic T-cell activity, induce isotype switching in B-cells, and that has diverse effects on innate immune cells. Among its target cells are CD4 T-helper cells which can differentiate in type 1 effector cells (TH1), type 2 effector cells (TH2) and IL17 producing helper T-cells (TH17). It drives rapid clonal expansion of naive but not memory CD4 T-cells. It also strongly synergizes with IL-12 to trigger interferon-gamma/IFN-gamma production of naive CD4 T-cells, binds to the cytokine receptor WSX-1/TCCR. Another important role of IL-27 is its antitumor activity as well as its antiangiogenic activity with activation of production of antiangiogenic chemokines. NA Belongs to the type I cytokine receptor family. Type 3 subfamily. Interleukin-35 Signalling;Interleukin-27 signaling PE1 19 +NX_Q14232 Translation initiation factor eIF-2B subunit alpha 305 33712 6.91 0 Cytosol Leukodystrophy with vanishing white matter Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. NA Belongs to the eIF-2B alpha/beta/delta subunits family. RNA transport;Recycling of eIF2:GDP PE1 12 +NX_Q14236 Early lymphoid activation gene protein 149 17843 10.16 0 NA NA May function as an early signal that helps mediate the activation of T-cells. NA NA NA PE2 X +NX_Q14240 Eukaryotic initiation factor 4A-II 407 46402 5.33 0 NA NA ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon. NA Belongs to the DEAD box helicase family. eIF4A subfamily. RNA transport;ISG15 antiviral mechanism;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Deadenylation of mRNA;Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S PE1 3 +NX_Q14241 Elongin-A 798 89909 9.59 0 Cytosol;Nucleus speckle;Nucleus NA SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex). NA NA Formation of RNA Pol II elongation complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;TP53 Regulates Transcription of DNA Repair Genes PE1 1 +NX_Q14242 P-selectin glycoprotein ligand 1 412 43201 4.35 1 Membrane NA A SLe(x)-type proteoglycan, which through high affinity, calcium-dependent interactions with E-, P- and L-selectins, mediates rapid rolling of leukocytes over vascular surfaces during the initial steps in inflammation. Critical for the initial leukocyte capture.;(Microbial infection) Acts as a receptor for enterovirus 71. Displays complex, core-2, sialylated and fucosylated O-linked oligosaccharides, at least some of which appear to contain poly-N-acetyllactosamine with varying degrees of substitution. Mainly disialylated or neutral forms of the core-2 tetrasaccharide, Galbeta1-->4GlcNAcbeta1-->6(Galbeta1-->3)GalNAcOH. The GlcN:GalN ratio is approximately 2:1 and the Man:Fuc ratio 3:5. Contains about 14% fucose with alpha-1,3 linkage present in two forms: One species is a disialylated, monofucosylated glycan, and the other, a monosialylated, trifucosylated glycan with a polylactosamine backbone. The fucosylated forms carry the Lewis antigen and are important for interaction with selectins and for functioning in leukocyte rolling. The modification containing the sialyl Lewis X glycan is on Thr-57. No sulfated O-glycans. Some N-glycosylation.;Sulfation, in conjunction with the SLe(x)-containing glycan, is necessary for P- and L-selectin binding. High affinity P-selectin binding has a preferred requirement for the isomer sulfated on both Tyr-48 and Tyr-51, whereas L-selectin binding requires predominantly sulfation on Tyr-51 with sulfation on Tyr-48 playing only a minor role. These sulfations play an important role in L- and P-selectin-mediated neutrophil recruitment, and leukocyte rolling. NA Cell adhesion molecules (CAMs);Staphylococcus aureus infection;Cell surface interactions at the vascular wall PE1 12 +NX_Q14244 Ensconsin 749 84052 9.62 0 Basolateral cell membrane;Cytosol;Perinuclear region;Cytoskeleton NA Microtubule-stabilizing protein that may play an important role during reorganization of microtubules during polarization and differentiation of epithelial cells. Associates with microtubules in a dynamic manner. May play a role in the formation of intercellular contacts. Colocalization with TRPV4 results in the redistribution of TRPV4 toward the membrane and may link cytoskeletal microfilaments. The association with microtubules is regulated by phosphorylation during the cell cycle. During interphase only phosphorylated on serine. Phosphorylated on threonine in mitosis. Belongs to the MAP7 family. NA PE1 6 +NX_Q14246 Adhesion G protein-coupled receptor E1 886 97683 6.42 7 Cell membrane NA Orphan receptor involved in cell adhesion and probably in cell-cell interactions specifically involving cells of the immune system. May play a role in regulatory T-cells (Treg) development. NA Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. Class B/2 (Secretin family receptors) PE1 19 +NX_Q14247 Src substrate cortactin 550 61586 5.24 0 Golgi apparatus;Dendritic spine;Cell cortex;Cell membrane;Cell junction;Podosome;Cell projection;Focal adhesion;Clathrin-coated pit;Lamellipodium;Ruffle;Cytoplasmic vesicle;Cytosol;Dendrite;Cytoskeleton NA Contributes to the organization of the actin cytoskeleton and cell shape (PubMed:21296879). Plays a role in the formation of lamellipodia and in cell migration. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Through its interaction with CTTNBP2, involved in the regulation of neuronal spine density (By similarity). Plays a role in the invasiveness of cancer cells, and the formation of metastases (PubMed:16636290). Plays a role in focal adhesion assembly and turnover (By similarity). In complex with ABL1 and MYLK regulates cortical actin-based cytoskeletal rearrangement critical to sphingosine 1-phosphate (S1P)-mediated endothelial cell (EC) barrier enhancement (PubMed:20861316). Plays a role in intracellular protein transport and endocytosis, and in modulating the levels of potassium channels present at the cell membrane (PubMed:17959782). Plays a role in receptor-mediated endocytosis via clathrin-coated pits (By similarity). Required for stabilization of KCNH1 channels at the cell membrane (PubMed:23144454). Phosphorylated by PKN2 at both serine and threonine residues in a GTP-bound Rac1-dependent manner in hyaluronan-induced astrocytes and hence down-regulated CTTN ability to associates with filamentous actin (By similarity). Phosphorylated on tyrosine residues in response to CHRM1 activation (By similarity). Phosphorylated by PTK2/FAK1 in response to cell adhesion (By similarity). Phosphorylated by FER. Tyrosine phosphorylation in transformed cells may contribute to cellular growth regulation and transformation. Phosphorylated in response to FGR activation. Phosphorylation by SRC promotes MYLK binding.;CTTN is phosphorylated by PKN2 (Phosphoserine,Phosphothreonine:PTM-0253,PTM-0254);CTTN is phosphorylated by FER NA Tight junction;Bacterial invasion of epithelial cells;Pathogenic Escherichia coli infection;Shigellosis;RHO GTPases activate PAKs;Clathrin-mediated endocytosis PE1 11 +NX_Q14249 Endonuclease G, mitochondrial 297 32620 9.53 0 Mitochondrion NA Cleaves DNA at double-stranded (DG)n.(DC)n and at single-stranded (DC)n tracts. In addition to deoxyribonuclease activities, also has ribonuclease (RNase) and RNase H activities. Capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA (By similarity). NA Belongs to the DNA/RNA non-specific endonuclease family. Apoptosis PE1 9 +NX_Q14254 Flotillin-2 428 47064 5.19 0 Cell membrane;Membrane;Endosome;Caveola;Cytoplasmic vesicle NA May act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles. May be involved in epidermal cell adhesion and epidermal structure and function. ZDHHC5-catalyzed palmitoylation predominantly occurs at Cys-4. ZDHHC5-catalyzed palmitoylation may be required for the formation of higher-order complexes and for neurite outgrowth in cultured neural stem cells. Belongs to the band 7/mec-2 family. Flotillin subfamily. Insulin signaling pathway;Synaptic adhesion-like molecules PE1 17 +NX_Q14257 Reticulocalbin-2 317 36876 4.26 0 Endoplasmic reticulum;Endoplasmic reticulum lumen NA Not known. Binds calcium. NA Belongs to the CREC family. NA PE1 15 +NX_Q14258 E3 ubiquitin/ISG15 ligase TRIM25 630 70973 8.44 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Functions as a ubiquitin E3 ligase and as an ISG15 E3 ligase (PubMed:16352599). Involved in innate immune defense against viruses by mediating ubiquitination of DDX58 and IFIH1 (PubMed:17392790, PubMed:30193849). Mediates 'Lys-63'-linked polyubiquitination of the DDX58 N-terminal CARD-like region which is crucial for triggering the cytosolic signal transduction that leads to the production of interferons in response to viral infection (PubMed:17392790). Mediates 'Lys-63'-linked polyubiquitination of IFIH1 (PubMed:30193849). Promotes ISGylation of 14-3-3 sigma (SFN), an adapter protein implicated in the regulation of a large spectrum signaling pathway (PubMed:16352599, PubMed:17069755). Mediates estrogen action in various target organs (PubMed:22452784). Mediates the ubiquitination and subsequent proteasomal degradation of ZFHX3 (PubMed:22452784). Auto-ISGylated. NA Protein modification; protein ubiquitination.;RIG-I-like receptor signaling pathway;Influenza A;ISG15 antiviral mechanism;Interferon gamma signaling;TRAF6 mediated IRF7 activation;TRAF6 mediated NF-kB activation;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Negative regulators of DDX58/IFIH1 signaling;Termination of translesion DNA synthesis;TRAF3-dependent IRF activation pathway;NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10;Ovarian tumor domain proteases PE1 17 +NX_Q14264 Endogenous retrovirus group 3 member 1 Env polyprotein 604 67942 6.84 0 Cytoplasmic vesicle;Virion NA SU mediates receptor recognition.;TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).;Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its fusogenic properties. It can inhibit cell growth through decrease expression of cyclin B1 and increased expression of p21 in vitro. Specific enzymatic cleavages in vivo yield the mature SU and TM proteins (By similarity). Has been mainly detected in vivo as an 65 kDa unprocessed polyprotein precursor.;The CXXC motif is highly conserved across a broad range of retroviral envelope proteins. It is thought to participate in the formation of a labile disulfide bond possibly with the CX6CC motif present in the transmembrane protein. Isomerization of the intersubunit disulfide bond to an SU intrachain disulfide bond is thought to occur upon receptor recognition in order to allow membrane fusion (By similarity). Belongs to the gamma type-C retroviral envelope protein family. HERV class-I R env subfamily. NA PE1 7 +NX_Q14289 Protein-tyrosine kinase 2-beta 1009 115875 5.91 0 Cytoplasm;Cell cortex;Cell membrane;Focal adhesion;Lamellipodium;Cytosol;Perinuclear region;Nucleus NA Non-receptor protein-tyrosine kinase that regulates reorganization of the actin cytoskeleton, cell polarization, cell migration, adhesion, spreading and bone remodeling. Plays a role in the regulation of the humoral immune response, and is required for normal levels of marginal B-cells in the spleen and normal migration of splenic B-cells. Required for normal macrophage polarization and migration towards sites of inflammation. Regulates cytoskeleton rearrangement and cell spreading in T-cells, and contributes to the regulation of T-cell responses. Promotes osteoclastic bone resorption; this requires both PTK2B/PYK2 and SRC. May inhibit differentiation and activity of osteoprogenitor cells. Functions in signaling downstream of integrin and collagen receptors, immune receptors, G-protein coupled receptors (GPCR), cytokine, chemokine and growth factor receptors, and mediates responses to cellular stress. Forms multisubunit signaling complexes with SRC and SRC family members upon activation; this leads to the phosphorylation of additional tyrosine residues, creating binding sites for scaffold proteins, effectors and substrates. Regulates numerous signaling pathways. Promotes activation of phosphatidylinositol 3-kinase and of the AKT1 signaling cascade. Promotes activation of NOS3. Regulates production of the cellular messenger cGMP. Promotes activation of the MAP kinase signaling cascade, including activation of MAPK1/ERK2, MAPK3/ERK1 and MAPK8/JNK1. Promotes activation of Rho family GTPases, such as RHOA and RAC1. Recruits the ubiquitin ligase MDM2 to P53/TP53 in the nucleus, and thereby regulates P53/TP53 activity, P53/TP53 ubiquitination and proteasomal degradation. Acts as a scaffold, binding to both PDPK1 and SRC, thereby allowing SRC to phosphorylate PDPK1 at 'Tyr-9, 'Tyr-373', and 'Tyr-376'. Promotes phosphorylation of NMDA receptors by SRC family members, and thereby contributes to the regulation of NMDA receptor ion channel activity and intracellular Ca(2+) levels. May also regulate potassium ion transport by phosphorylation of potassium channel subunits. Phosphorylates SRC; this increases SRC kinase activity. Phosphorylates ASAP1, NPHP1, KCNA2 and SHC1. Promotes phosphorylation of ASAP2, RHOU and PXN; this requires both SRC and PTK2/PYK2. Phosphorylated on tyrosine residues in response to various stimuli that elevate the intracellular calcium concentration; this activation is indirect and may be mediated by production of reactive oxygen species (ROS). Tyr-402 is the major autophosphorylation site, but other kinases can also phosphorylate Tyr-402. Autophosphorylation occurs in trans, i.e. One subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-402 promotes interaction with SRC and SRC family members, leading to phosphorylation at Tyr-579; Tyr-580 and Tyr-881. Phosphorylation at Tyr-881 is important for interaction with GRB2. Phosphorylated on tyrosine residues upon activation of FGR and PKC. Recruitment by NPHP1 to cell matrix adhesions initiates Tyr-402 phosphorylation. In monocytes, adherence to substrata is required for tyrosine phosphorylation and kinase activation. Angiotensin II, thapsigargin and L-alpha-lysophosphatidic acid (LPA) also induce autophosphorylation and increase kinase activity. Phosphorylation by MYLK promotes ITGB2 activation and is thus essential to trigger neutrophil transmigration during lung injury. Dephosphorylated by PTPN12.;PTK2B is phosphorylated by MYLK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. FAK subfamily. Calcium signaling pathway;Chemokine signaling pathway;Natural killer cell mediated cytotoxicity;Leukocyte transendothelial migration;GnRH signaling pathway;VEGFA-VEGFR2 Pathway;Signal regulatory protein family interactions;Interleukin-2 signaling PE1 8 +NX_Q14296 Fas-activated serine/threonine kinase 549 61104 9.96 0 Mitochondrion matrix;Nucleus speckle;Mitochondrion NA Required for the biogenesis of some mitochondrial-encoded mRNAs, specifically stabilizes ND6 (NADH dehydrogenase complex subunit 6) mRNA, and regulates its levels.;Phosphorylates the splicing regulator TIA1, thereby promoting the inclusion of FAS exon 6, which leads to an mRNA encoding a pro-apoptotic form of the receptor. Autophosphorylated on serine/threonine residues. Activated by dephosphorylation. Belongs to the FAST protein kinase family. NA PE1 7 +NX_Q14314 Fibroleukin 439 50229 7.09 0 Secreted NA May play a role in physiologic lymphocyte functions at mucosal sites. NA NA Neutrophil degranulation PE1 7 +NX_Q14315 Filamin-C 2725 291022 5.65 0 Cytoplasm;Cell membrane;Membrane;Cytosol;Z line;Cytoskeleton Myopathy, distal, 4;Myopathy, myofibrillar, 5;Cardiomyopathy, familial restrictive 5;Cardiomyopathy, familial hypertrophic 26 Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross-linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers. Ubiquitinated by FBXL22, leading to proteasomal degradation. Belongs to the filamin family. MAPK signaling pathway;Focal adhesion;Salmonella infection;Cell-extracellular matrix interactions PE1 7 +NX_Q14318 Peptidyl-prolyl cis-trans isomerase FKBP8 412 44562 4.78 1 Mitochondrion membrane;Endoplasmic reticulum;Cytosol;Mitochondrion NA Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active form of FKBP8 may therefore play a role in the regulation of apoptosis. Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. NA Ub-specific processing proteases PE1 19 +NX_Q14320 Protein FAM50A 339 40242 6.39 0 Nucleoplasm;Nucleus NA May be a DNA-binding protein or transcriptional factor. NA Belongs to the FAM50 family. NA PE1 X +NX_Q14324 Myosin-binding protein C, fast-type 1141 128072 7.44 0 NA NA Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role. NA Belongs to the immunoglobulin superfamily. MyBP family. Striated Muscle Contraction PE1 19 +NX_Q14330 N-arachidonyl glycine receptor 331 38134 9.38 7 Cytoplasmic vesicle membrane;Cell membrane NA Receptor for endocannabinoid N-arachidonyl glycine (NAGly) (PubMed:16844083, PubMed:24762058, PubMed:27572937). However, conflicting results about the role of NAGly as an agonist are reported (PubMed:27018161). Can also be activated by plant-derived and synthetic cannabinoid agonists (PubMed:24762058). The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase (PubMed:16844083). May contribute to regulation of the immune system. Is required for normal homeostasis of CD8+ subsets of intraepithelial lymphocytes (IELs) (CD8alphaalpha and CD8alphabeta IELs)in small intstine by supporting preferential migration of CD8alphaalpha T-cells to intraepithelial compartment over lamina propria compartment, and by mediating their reconstitution into small intestine after bone marrow transplant (By similarity). Plays a role in hypotensive responses, mediating reduction in intraocular and blood pressure (By similarity). Mediates NAGly-induced process of reorganization of actin filaments and induction of acrosomal exocytosis (PubMed:27572937). NA Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;Class A/1 (Rhodopsin-like receptors) PE1 13 +NX_Q14331 Protein FRG1 258 29172 9.1 0 Cajal body;Cytoplasm;Z line;Nucleolus Facioscapulohumeral muscular dystrophy 1 Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N-methyltransferase KMT5B. NA Belongs to the FRG1 family. NA PE1 4 +NX_Q14332 Frizzled-2 565 63554 8.47 7 Cell membrane;Cell junction;Membrane;Nucleoplasm;Nucleus Omodysplasia 2 Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (PubMed:25759469). A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Ubiquitinated by ZNRF3, leading to its degradation by the proteasome. Belongs to the G-protein coupled receptor Fz/Smo family. Wnt signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;Asymmetric localization of PCP proteins;Class B/2 (Secretin family receptors);TCF dependent signaling in response to WNT;Ca2+ pathway;Disassembly of the destruction complex and recruitment of AXIN to the membrane;WNT5A-dependent internalization of FZD2, FZD5 and ROR2 PE1 17 +NX_Q14344 Guanine nucleotide-binding protein subunit alpha-13 377 44050 8.12 0 Cytoplasm;Cell membrane;Melanosome;Cytosol;Nucleus NA Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems (PubMed:15240885, PubMed:16787920, PubMed:16705036, PubMed:27084452). Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF1/p115RhoGEF, ARHGEF11/PDZ-RhoGEF and ARHGEF12/LARG) (PubMed:15240885, PubMed:12515866). GNA13-dependent Rho signaling subsequently regulates transcription factor AP-1 (activating protein-1) (By similarity). Promotes tumor cell invasion and metastasis by activating RhoA/ROCK signaling pathway (PubMed:16787920, PubMed:16705036, PubMed:27084452). Inhibits CDH1-mediated cell adhesion in process independent from Rho activation (PubMed:11976333). Palmitoylation is critical for proper membrane localization and signaling.;Phosphorylation on Thr-203 by PKA destabilizes the heterotrimer of alpha, beta and gamma, and inhibits Rho activation.;GNA13 is phosphorylated by ITK (Phosphotyrosine:PTM-0255) Belongs to the G-alpha family. G(12) subfamily. Vascular smooth muscle contraction;Long-term depression;Regulation of actin cytoskeleton;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs) PE1 17 +NX_Q14353 Guanidinoacetate N-methyltransferase 236 26318 5.74 0 NA Cerebral creatine deficiency syndrome 2 Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor (PubMed:26003046, PubMed:24415674, PubMed:26319512). Important in nervous system development (PubMed:24415674). NA Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family. Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 2/2.;Glycine, serine and threonine metabolism;Arginine and proline metabolism;Metabolic pathways;Creatine metabolism;Transcriptional Regulation by MECP2 PE1 19 +NX_Q14376 UDP-glucose 4-epimerase 348 38282 6.26 0 Nucleoplasm;Cytosol;Cell membrane Epimerase-deficiency galactosemia Catalyzes two distinct but analogous reactions: the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6-phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP-GalNAc when exogenous sources are limited. Both UDP-sugar interconversions are important in the synthesis of glycoproteins and glycolipids. NA Belongs to the NAD(P)-dependent epimerase/dehydratase family. Carbohydrate metabolism; galactose metabolism.;Galactose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Defective GALE can cause Epimerase-deficiency galactosemia (EDG);Galactose catabolism PE1 1 +NX_Q14390 Glutathione hydrolase light chain 2 218 23661 5.11 0 NA NA NA NA Belongs to the gamma-glutamyltransferase family. NA PE2 22 +NX_Q14392 Transforming growth factor beta activator LRRC32 662 71979 5.73 1 Cell surface;Nucleoplasm;Cell membrane NA Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space (PubMed:19750484, PubMed:19651619, PubMed:22278742). Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta (PubMed:22278742). Able to outcompete LTBP1 for binding to LAP regulatory chain of TGF-beta (PubMed:22278742). Controls activation of TGF-beta-1 (TGFB1) on the surface of activated regulatory T-cells (Tregs) (PubMed:19750484, PubMed:19651619). Required for epithelial fusion during palate development by regulating activation of TGF-beta-3 (TGFB3) (By similarity). NA Belongs to the LRRC32/LRRC33 family. NA PE1 11 +NX_Q14393 Growth arrest-specific protein 6 678 74925 5.46 0 Cytosol;Centriolar satellite;Secreted NA Ligand for tyrosine-protein kinase receptors AXL, TYRO3 and MER whose signaling is implicated in cell growth and survival, cell adhesion and cell migration. GAS6/AXL signaling plays a role in various processes such as endothelial cell survival during acidification by preventing apoptosis, optimal cytokine signaling during human natural killer cell development, hepatic regeneration, gonadotropin-releasing hormone neuron survival and migration, platelet activation, or regulation of thrombotic responses.;(Microbial infection) Can bridge virus envelope phosphatidylserine to the TAM receptor tyrosine kinase Axl to mediate viral entry by apoptotic mimicry (PubMed:21501828). Plays a role in Dengue cell entry by apoptotic mimicry (PubMed:23084921). Plays a role in Vaccinia virus cell entry by apoptotic mimicry (PubMed:21501828). Plays a role in ebolavirus and marburgvirus cell entry by apoptotic mimicry (PubMed:17005688). Proteolytically processed after secretion to yield a N-terminal 36 kDa protein and a C-terminal 50 kDa protein including the laminin G-like domains which activates AXL.;Gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation. These residues are essential for the binding of calcium. NA Cell surface interactions at the vascular wall;Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Gamma-carboxylation of protein precursors;Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus;Removal of aminoterminal propeptides from gamma-carboxylated proteins;Post-translational protein phosphorylation PE1 13 +NX_Q14397 Glucokinase regulatory protein 625 68685 6.24 0 Cytoplasm;Mitochondrion;Nucleus;Cytoskeleton NA Regulates glucokinase (GCK) by forming an inactive complex with this enzyme (PubMed:23621087, PubMed:23733961). Acts by promoting GCK recruitment to the nucleus, possibly to provide a reserve of GCK that can be quickly released in the cytoplasm after a meal (PubMed:10456334). The affinity of GCKR for GCK is modulated by fructose metabolites: GCKR with bound fructose 6-phosphate has increased affinity for GCK, while GCKR with bound fructose 1-phosphate has strongly decreased affinity for GCK and does not inhibit GCK activity (PubMed:23621087, PubMed:23733961). NA Belongs to the GCKR family. Regulation of Glucokinase by Glucokinase Regulatory Protein;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) PE1 2 +NX_Q14406 Chorionic somatomammotropin hormone-like 1 222 25391 5.56 0 Secreted NA May be a novel gestational hormone required to compensate for absence of other members of the GH/CS cluster during gestation. NA Belongs to the somatotropin/prolactin family. NA PE1 17 +NX_Q14409 Glycerol kinase 3 553 60598 6 0 Mitochondrion outer membrane;Cytoplasm NA Key enzyme in the regulation of glycerol uptake and metabolism. NA Belongs to the FGGY kinase family. Polyol metabolism; glycerol degradation via glycerol kinase pathway; sn-glycerol 3-phosphate from glycerol: step 1/1.;Triglyceride biosynthesis PE1 4 +NX_Q14410 Glycerol kinase 2 553 60594 5.57 0 Mitochondrion outer membrane;Cytoplasm NA Key enzyme in the regulation of glycerol uptake and metabolism. NA Belongs to the FGGY kinase family. Polyol metabolism; glycerol degradation via glycerol kinase pathway; sn-glycerol 3-phosphate from glycerol: step 1/1.;Glycerolipid metabolism;Metabolic pathways;PPAR signaling pathway;Triglyceride biosynthesis PE1 4 +NX_Q14416 Metabotropic glutamate receptor 2 872 95568 8.5 7 Dendrite;Synapse;Cell membrane NA G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. May mediate suppression of neurotransmission or may be involved in synaptogenesis or synaptic stabilization. NA Belongs to the G-protein coupled receptor 3 family. Neuroactive ligand-receptor interaction;Glutamatergic synapse;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 3 +NX_Q14432 cGMP-inhibited 3',5'-cyclic phosphodiesterase A 1141 124979 5.66 6 Membrane;Cell membrane Hypertension and brachydactyly syndrome Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. NA Belongs to the cyclic nucleotide phosphodiesterase family. PDE3 subfamily. Purine metabolism;Insulin signaling pathway;Progesterone-mediated oocyte maturation;G alpha (s) signalling events PE1 12 +NX_Q14435 Polypeptide N-acetylgalactosaminyltransferase 3 633 72610 8.2 1 Golgi stack membrane;Golgi apparatus Tumoral calcinosis, hyperphosphatemic, familial, 1 Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward HIV envelope glycoprotein gp120, EA2, Muc2 and Muc5. Probably glycosylates fibronectin in vivo. Glycosylates FGF23. Plays a central role in phosphate homeostasis. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins;FGFR3c ligand binding and activation;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC) PE1 2 +NX_Q14439 G-protein coupled receptor 176 515 56998 8.81 7 Cell membrane NA Orphan receptor involved in normal circadian rhythm behavior. Acts through the G-protein subclass G(z)-alpha and has an agonist-independent basal activity to repress cAMP production. NA Belongs to the G-protein coupled receptor 1 family. G alpha (s) signalling events PE1 15 +NX_Q14442 Phosphatidylinositol N-acetylglucosaminyltransferase subunit H 188 21081 6.29 0 Cytoplasm Glycosylphosphatidylinositol biosynthesis defect 17 Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis. NA Belongs to the PIGH family. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Synthesis of glycosylphosphatidylinositol (GPI) PE1 14 +NX_Q14444 Caprin-1 709 78366 5.14 0 Cytoplasm;Cytosol;Dendrite NA May regulate the transport and translation of mRNAs of proteins involved in synaptic plasticity in neurons and cell proliferation and migration in multiple cell types. Binds directly and selectively to MYC and CCND2 RNAs. In neuronal cells, directly binds to several mRNAs associated with RNA granules, including BDNF, CAMK2A, CREB1, MAP2, NTRK2 mRNAs, as well as to GRIN1 and KPNB1 mRNAs, but not to rRNAs. O-glycosylated (O-GlcNAcylated), in a cell cycle-dependent manner. Belongs to the caprin family. NA PE1 11 +NX_Q14449 Growth factor receptor-bound protein 14 540 60988 8.56 0 Nucleoplasm;Cytoplasm;Cytosol;Endosome membrane NA Adapter protein which modulates coupling of cell surface receptor kinases with specific signaling pathways. Binds to, and suppresses signals from, the activated insulin receptor (INSR). Potent inhibitor of insulin-stimulated MAPK3 phosphorylation. Plays a critical role regulating PDPK1 membrane translocation in response to insulin stimulation and serves as an adapter protein to recruit PDPK1 to activated insulin receptor, thus promoting PKB/AKT1 phosphorylation and transduction of the insulin signal. Phosphorylated on serine residues. Phosphorylated on tyrosine residues by TEK/TIE2.;GRB14 is phosphorylated by PRKCZ (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the GRB7/10/14 family. Tie2 Signaling PE1 2 +NX_Q14451 Growth factor receptor-bound protein 7 532 59681 8.82 0 Cytoplasm;Cell membrane;Focal adhesion;Cell projection;Cytosol;Cytoplasmic granule NA Adapter protein that interacts with the cytoplasmic domain of numerous receptor kinases and modulates down-stream signaling. Promotes activation of down-stream protein kinases, including STAT3, AKT1, MAPK1 and/or MAPK3. Promotes activation of HRAS. Plays a role in signal transduction in response to EGF. Plays a role in the regulation of cell proliferation and cell migration. Plays a role in the assembly and stability of RNA stress granules. Binds to the 5'UTR of target mRNA molecules and represses translation of target mRNA species, when not phosphorylated. Phosphorylation impairs RNA binding and promotes stress granule disassembly during recovery after cellular stress (By similarity). Phosphorylated on serine and threonine residues in response to heregulin. Phosphorylated on tyrosine residues by TEK/TIE2. Phosphorylated on tyrosine residues in response to NTN1 signaling. Phosphorylation promotes stress granule disassembly during recovery after cellular stress (By similarity). Phosphorylated on tyrosine residues by PTK2/FAK1, and possibly also other kinases. Phosphorylation is enhanced by activation of receptor kinases. Tyrosine phosphorylation is essential for activation of down-stream protein kinases.;GRB7 is phosphorylated by RET (Phosphotyrosine:PTM-0255);GRB7 is phosphorylated by EPHB1 (Phosphotyrosine:PTM-0255) Belongs to the GRB7/10/14 family. Signaling by SCF-KIT;Tie2 Signaling;GRB7 events in ERBB2 signaling;Downstream signal transduction;RET signaling PE1 17 +NX_Q14457 Beclin-1 450 51896 4.83 0 Cytoplasm;Endoplasmic reticulum membrane;Mitochondrion;Endosome membrane;trans-Golgi network membrane;Endosome;Autophagosome;Mitochondrion membrane;Nucleus NA Beclin-1-C 35 kDa localized to mitochondria can promote apoptosis; it induces the mitochondrial translocation of BAX and the release of proapoptotic factors.;Plays a central role in autophagy (PubMed:23184933, PubMed:28445460). Acts as core subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123, PubMed:20208530, PubMed:26783301). Essential for the formation of PI3KC3-C2 but not PI3KC3-C1 PI3K complex forms. Involved in endocytosis (PubMed:25275521). Protects against infection by a neurovirulent strain of Sindbis virus (PubMed:9765397). May play a role in antiviral host defense. Phosphorylation at Thr-119 by DAPK1 reduces its interaction with BCL2 and BCL2L1 and promotes induction of autophagy (PubMed:19180116). In response to autophagic stimuli, phosphorylated at serine residues by AMPK in an ATG14-dependent manner, and this phosphorylation is critical for maximally efficient autophagy (PubMed:23878393).;Polyubiquitinated by NEDD4, both with 'Lys-11'- and 'Lys-63'-linkages (PubMed:21936852). 'Lys-11'-linked polyubiquitination leads to degradation and is enhanced when the stabilizing interaction partner VPS34 is depleted (PubMed:21936852). Deubiquitinated by USP10 and USP13, leading to stabilize the PIK3C3/VPS34-containing complexes (PubMed:21962518). Polyubiquitinated at Lys-402 with 'Lys-48'-linkages (PubMed:28445460). 'Lys-48'-linked polyubiquitination of Lys-402 leads to degradation (PubMed:28445460). Deubiquitinated by ATXN3, leading to stabilization (PubMed:28445460).;Proteolytically processed by caspases including CASP8 and CASP3; the C-terminal fragments lack autophagy-inducing capacity and are proposed to induce apoptosis. Thus the cleavage is proposed to be an determinant to switch from autophagy to apoptosis pathways affecting cellular homeostasis including viral infections and survival of tumor cells. Belongs to the beclin family. Regulation of autophagy;Macroautophagy;Ub-specific processing proteases PE1 17 +NX_Q14469 Transcription factor HES-1 280 29541 9.66 0 Nucleoplasm;Nucleus NA Transcriptional repressor of genes that require a bHLH protein for their transcription. May act as a negative regulator of myogenesis by inhibiting the functions of MYOD1 and ASH1. Binds DNA on N-box motifs: 5'-CACNAG-3' with high affinity and on E-box motifs: 5'-CANNTG-3' with low affinity (By similarity). May play a role in a functional FA core complex response to DNA cross-link damage, being required for the stability and nuclear localization of FA core complex proteins, as well as for FANCD2 monoubiquitination in response to DNA damage. NA NA Fanconi anemia pathway;Notch signaling pathway;Maturity onset diabetes of the young;NOTCH2 intracellular domain regulates transcription;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells;RUNX3 regulates NOTCH signaling;RUNX2 regulates osteoblast differentiation;NOTCH3 Intracellular Domain Regulates Transcription;NOTCH4 Intracellular Domain Regulates Transcription PE1 3 +NX_Q14493 Histone RNA hairpin-binding protein 270 31286 7.06 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA RNA-binding protein involved in the histone pre-mRNA processing. Binds the stem-loop structure of replication-dependent histone pre-mRNAs and contributes to efficient 3'-end processing by stabilizing the complex between histone pre-mRNA and U7 small nuclear ribonucleoprotein (snRNP), via the histone downstream element (HDE). Plays an important role in targeting mature histone mRNA from the nucleus to the cytoplasm and to the translation machinery. Stabilizes mature histone mRNA and could be involved in cell-cycle regulation of histone gene expression. Involved in the mechanism by which growing oocytes accumulate histone proteins that support early embryogenesis. Binds to the 5' side of the stem-loop structure of histone pre-mRNAs. Phosphorylated on Thr-61 and Thr-62 in the S-phase. Phosphorylation of Thr-62 by CDK1 primes phosphorylation of Thr-61 by CK2. Phosphorylation of Thr-62 is required for its degradation by the proteasome at the end of the S phase. Its degradation is not required for histone mRNA degradation at the end of the S phase. All the phosphorylated forms detected are present in the cytoplasm. Both unphosphorylated and phosphorylated forms bind the stem-loop structure of histone mRNAs. Phosphorylation at Thr-171 increases affinity for histone mRNAs. Belongs to the SLBP family. Transport of the SLBP Dependant Mature mRNA;SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 4 +NX_Q14494 Endoplasmic reticulum membrane sensor NFE2L1 772 84704 4.52 1 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Nucleus NA Endoplasmic reticulum membrane sensor NFE2L1: Endoplasmic reticulum membrane sensor that translocates into the nucleus in response to various stresses to act as a transcription factor (PubMed:20932482, PubMed:24448410). Constitutes a precursor of the transcription factor NRF1 (By similarity). Able to detect various cellular stresses, such as cholesterol excess, oxidative stress or proteasome inhibition (PubMed:20932482). In response to stress, it is released from the endoplasmic reticulum membrane following cleavage by the protease DDI2 and translocates into the nucleus to form the transcription factor NRF1 (By similarity). Acts as a key sensor of cholesterol excess: in excess cholesterol conditions, the endoplasmic reticulum membrane form of the protein directly binds cholesterol via its CRAC motif, preventing cleavage and release of the transcription factor NRF1, thereby allowing expression of genes promoting cholesterol removal, such as CD36 (By similarity). Involved in proteasome homeostasis: in response to proteasome inhibition, it is released from the endoplasmic reticulum membrane, translocates to the nucleus and activates expression of genes encoding proteasome subunits (PubMed:20932482).;Transcription factor NRF1: CNC-type bZIP family transcription factor that translocates to the nucleus and regulates expression of target genes in response to various stresses (PubMed:8932385, PubMed:9421508). Heterodimerizes with small-Maf proteins (MAFF, MAFG or MAFK) and binds DNA motifs including the antioxidant response elements (AREs), which regulate expression of genes involved in oxidative stress response (PubMed:8932385, PubMed:9421508). Activates or represses expression of target genes, depending on the context (PubMed:8932385, PubMed:9421508). Plays a key role in cholesterol homeostasis by acting as a sensor of cholesterol excess: in low cholesterol conditions, translocates into the nucleus and represses expression of genes involved in defense against cholesterol excess, such as CD36 (By similarity). In excess cholesterol conditions, the endoplasmic reticulum membrane form of the protein directly binds cholesterol via its CRAC motif, preventing cleavage and release of the transcription factor NRF1, thereby allowing expression of genes promoting cholesterol removal (By similarity). Critical for redox balance in response to oxidative stress: acts by binding the AREs motifs on promoters and mediating activation of oxidative stress response genes, such as GCLC, GCLM, GSS, MT1 and MT2 (By similarity). Plays an essential role during fetal liver hematopoiesis: probably has a protective function against oxidative stress and is involved in lipid homeostasis in the liver (By similarity). Involved in proteasome homeostasis: in response to proteasome inhibition, mediates the 'bounce-back' of proteasome subunits by translocating into the nucleus and activating expression of genes encoding proteasome subunits (PubMed:20932482). Also involved in regulating glucose flux (By similarity). Together with CEBPB; represses expression of DSPP during odontoblast differentiation (PubMed:15308669). In response to ascorbic acid induction, activates expression of SP7/Osterix in osteoblasts. Endoplasmic reticulum membrane sensor NFE2L1: Cleaved at Leu-104 by the aspartyl protease DDI2 following retrotranslocation, releasing the protein from the endoplasmic reticulum membrane and forming the transcription factor NRF1 that translocates into the nucleus (PubMed:24448410, PubMed:27676297, PubMed:27676298, PubMed:27528193). Ubiquitination is prerequisite for cleavage by aspartyl protease DDI2 (PubMed:27676298).;Endoplasmic reticulum membrane sensor NFE2L1: Ubiquitinated by the SCF(FBXW7) complex and SYVN1/HRD1, leading to its degradation by the proteasome (PubMed:20932482). Ubiquitinated during retrotranslocation to the cytosolic side of the membrane: ubiquitination does not lead to degradation and is required for processing by the aspartyl protease DDI2 and subsequent release from the endoplasmic reticulum membrane (PubMed:24998528, PubMed:27676298).;Transcription factor NRF1: Ubiquitinated by the SCF(BTRC) complex in the nucleus, leading to its degradation by the proteasome.;Transcription factor NRF1: Phosphorylation by CK2 at Ser-528 inhibits transcription factor activity, possibly by affecting DNA-binding activity (By similarity). Phosphorylation at Ser-599 is required for interaction with CEBPB (PubMed:15308669).;Endoplasmic reticulum membrane sensor NFE2L1: N-glycosylated in normal conditions, when it has a single-pass type II membrane protein topology, with the DNA-binding domain facing the endoplasmic reticulum lumen (PubMed:20932482, PubMed:24998528, PubMed:24448410, PubMed:27528193). Deglycosylated during retrotranslocation to the cytosolic side of the membrane, to have a single-pass type III membrane protein topology with the major part of the protein facing the cytosol (PubMed:20932482, PubMed:24998528, PubMed:24448410). Belongs to the bZIP family. CNC subfamily. NA PE1 17 +NX_Q14498 RNA-binding protein 39 530 59380 10.1 0 Nucleus speckle;Centriolar satellite;Nucleoplasm;Nucleus;Cytoskeleton NA Transcriptional coactivator for steroid nuclear receptors ESR1/ER-alpha and ESR2/ER-beta, and JUN/AP-1 (By similarity). May be involved in pre-mRNA splicing process. NA Belongs to the splicing factor SR family. NA PE1 20 +NX_Q14500 ATP-sensitive inward rectifier potassium channel 12 433 49001 5.63 2 Membrane;Cell membrane NA Inward rectifying potassium channel that is activated by phosphatidylinositol 4,5-bisphosphate and that probably participates in controlling the resting membrane potential in electrically excitable cells. Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. NA Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ12 subfamily. Cholinergic synapse;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Classical Kir channels;Phase 4 - resting membrane potential PE1 17 +NX_Q14507 Epididymal secretory protein E3-alpha 147 17646 8.64 0 Secreted NA Possible function in sperm maturation. NA NA NA PE1 14 +NX_Q14508 WAP four-disulfide core domain protein 2 124 12993 4.69 0 Secreted NA Broad range protease inhibitor. NA NA NA PE1 20 +NX_Q14511 Enhancer of filamentation 1 834 92861 6.23 0 Golgi apparatus;Cytoplasm;Cell cortex;Cell membrane;Focal adhesion;Nucleoplasm;Lamellipodium;Cytosol;Spindle;Nucleus NA Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May function in transmitting growth control signals between focal adhesions at the cell periphery and the mitotic spindle in response to adhesion or growth factor signals initiating cell proliferation. May play an important role in integrin beta-1 or B cell antigen receptor (BCR) mediated signaling in B- and T-cells. Integrin beta-1 stimulation leads to recruitment of various proteins including CRK, NCK and SHPTP2 to the tyrosine phosphorylated form. Cell cycle-regulated processing produces four isoforms: p115, p105, p65, and p55.;PTK2/FAK1 phosphorylates the protein at the YDYVHL motif (conserved among all cas proteins). The SRC family kinases (FYN, SRC, LCK and CRK) are recruited to the phosphorylated sites and can phosphorylate other tyrosine residues. Ligation of either integrin beta-1 or B-cell antigen receptor on tonsillar B-cells and B-cell lines promotes tyrosine phosphorylation and both integrin and BCR-mediated tyrosine phosphorylation requires an intact actin network. In fibroblasts transformation with oncogene v-ABL results in an increase in tyrosine phosphorylation. Transiently phosphorylated following CD3 cross-linking and this phosphorylated form binds to CRK and C3G. A mutant lacking the SH3 domain is phosphorylated upon CD3 cross-linking but not upon integrin beta-1 cross-linking. Tyrosine phosphorylation occurs upon stimulation of the G-protein coupled C1a calcitonin receptor. Calcitonin-stimulated tyrosine phosphorylation is mediated by calcium- and protein kinase C-dependent mechanisms and requires the integrity of the actin cytoskeleton. Phosphorylation at Ser-369 induces proteasomal degradation. Belongs to the CAS family. NA PE1 6 +NX_Q14512 Fibroblast growth factor-binding protein 1 234 26264 9.28 0 Extracellular space;Cell membrane NA Acts as a carrier protein that release fibroblast-binding factors (FGFs) from the extracellular matrix (EM) storage and thus enhance the mitogenic activity of FGFs. Enhances FGF2 signaling during tissue repair, angiogenesis and in tumor growth. NA Belongs to the fibroblast growth factor-binding protein family. FGFR2b ligand binding and activation PE1 4 +NX_Q14515 SPARC-like protein 1 664 75208 4.71 0 Extracellular matrix NA NA N- and O-glycosylated. O-glycosylated with a core 1 or possibly core 8 glycan. Belongs to the SPARC family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 4 +NX_Q14517 Protocadherin Fat 1 4588 506273 4.85 1 Perinuclear region;Nucleus;Cell membrane NA Plays an essential role for cellular polarization, directed cell migration and modulating cell-cell contact. Undergoes proteolytic cleavage. The extracellular domain is cleaved off and the cytoplasmic domain (about 400 AA) shuttles to the nucleus. NA NA PE1 4 +NX_Q14520 Hyaluronan-binding protein 2 560 62672 6.09 0 Secreted Thyroid cancer, non-medullary, 5 Cleaves the alpha-chain at multiple sites and the beta-chain between 'Lys-53' and 'Lys-54' but not the gamma-chain of fibrinogen and therefore does not initiate the formation of the fibrin clot and does not cause the fibrinolysis directly. It does not cleave (activate) prothrombin and plasminogen but converts the inactive single chain urinary plasminogen activator (pro-urokinase) to the active two chain form. Activates coagulation factor VII (PubMed:8827452, PubMed:10754382, PubMed:11217080). May function as a tumor suppressor negatively regulating cell proliferation and cell migration (PubMed:26222560). Proteolytic cleavage at Gly-23 or Met-27 can give rise to the 50 kDa heavy chain and cleavage at Arg-313 or Lys-319 can give rise to the 27 kDa light chain. The heavy chain can undergo further proteolytic cleavage at Lys-169 or Arg-170 to give rise to 2 inactive 26 kDa fragments and the light chain can undergo further proteolytic cleavage at Arg-480 to give rise to inactive 17 kDa and 8 kDa fragments (By similarity). Belongs to the peptidase S1 family. NA PE1 10 +NX_Q14524 Sodium channel protein type 5 subunit alpha 2016 226940 5.34 24 T-tubule;Cell membrane;Nucleolus;Nucleoplasm;Perinuclear region Progressive familial heart block 1A;Familial paroxysmal ventricular fibrillation 1;Atrial standstill 1;Atrial fibrillation, familial, 10;Brugada syndrome 1;Long QT syndrome 3;Sick sinus syndrome 1;Sudden infant death syndrome;Cardiomyopathy, dilated 1E This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:1309946, PubMed:21447824, PubMed:25370050, PubMed:23420830, PubMed:23085483, PubMed:26279430, PubMed:26392562, PubMed:26776555). It is a tetrodotoxin-resistant Na(+) channel isoform (PubMed:1309946). This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels (PubMed:19074138). Ubiquitinated by NEDD4L; which promotes its endocytosis. Does not seem to be ubiquitinated by NEDD4 or WWP2.;Phosphorylation at Ser-1503 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents (Probable). Regulated through phosphorylation by CaMK2D (By similarity).;Lacks the cysteine which covalently binds the conotoxin GVIIJ. This cysteine (position 868) is speculated in other sodium channel subunits alpha to be implied in covalent binding with the sodium channel subunit beta-2 or beta-4. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.5/SCN5A subfamily. Interaction between L1 and Ankyrins;Phase 0 - rapid depolarisation PE1 3 +NX_Q14525 Keratin, type I cuticular Ha3-II 404 46214 4.81 0 NA NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_Q14526 Hypermethylated in cancer 1 protein 733 76508 6.38 0 Nucleus NA Transcriptional repressor. Recognizes and binds to the consensus sequence '5-[CG]NG[CG]GGGCA[CA]CC-3'. May act as a tumor suppressor. May be involved in development of head, face, limbs and ventral body wall. Involved in down-regulation of SIRT1 and thereby is involved in regulation of p53/TP53-dependent apoptotic DNA-damage responses. The specific target gene promoter association seems to be depend on corepressors, such as CTBP1 or CTBP2 and MTA1. The regulation of SIRT1 transcription in response to nutrient deprivation seems to involve CTBP1. In cooperation with MTA1 (indicative for an association with the NuRD complex) represses transcription from CCND1/cyclin-D1 and CDKN1C/p57Kip2 specifically in quiescent cells. Involved in regulation of the Wnt signaling pathway probably by association with TCF7L2 and preventing TCF7L2 and CTNNB1 association with promoters of TCF-responsive genes. Seems to repress transcription from E2F1 and ATOH1 which involves ARID1A, indicative for the participation of a distinct SWI/SNF-type chromatin-remodeling complex. Probably represses transcription from ACKR3, FGFBP1 and EFNA1. Sumoylated on Lys-333 by a PIAS family member, which enhances interaction with MTA1, positively regulates transcriptional repression activity and is enhanced by HDAC4.;Acetylated on several residues, including Lys-333. Lys-333 is deacetylated by SIRT1. Belongs to the krueppel C2H2-type zinc-finger protein family. Hic subfamily. SUMOylation of transcription factors PE1 17 +NX_Q14527 Helicase-like transcription factor 1009 113929 8.82 0 Nucleus;Cytoplasm;Nucleoplasm;Nucleolus NA Has both helicase and E3 ubiquitin ligase activities. Possesses intrinsic ATP-dependent nucleosome-remodeling activity; This activity may be required for transcriptional activation or repression of specific target promoters (By similarity). These may include the SERPINE1 and HIV-1 promoters and the SV40 enhancer, to which this protein can bind directly. Plays a role in error-free postreplication repair (PRR) of damaged DNA and maintains genomic stability through acting as a ubiquitin ligase for 'Lys-63'-linked polyubiquitination of chromatin-bound PCNA. NA Belongs to the SNF2/RAD54 helicase family. RAD16 subfamily. Protein modification; protein ubiquitination.;E3 ubiquitin ligases ubiquitinate target proteins PE1 3 +NX_Q14532 Keratin, type I cuticular Ha2 448 50343 4.78 0 NA NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_Q14533 Keratin, type II cuticular Hb1 505 54928 5.4 0 NA Monilethrix NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_Q14534 Squalene monooxygenase 574 63923 8.8 0 Microsome membrane;Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum membrane NA Catalyzes the stereospecific oxidation of squalene to (S)-2,3-epoxysqualene, and is considered to be a rate-limiting enzyme in steroid biosynthesis. Ubiquitinated by MARCH6 in response to high cholesterol levels in intracellular membranes, leading to proteasomal degradation. Belongs to the squalene monooxygenase family. Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 2/3.;Steroid biosynthesis;Metabolic pathways;Cholesterol biosynthesis;Activation of gene expression by SREBF (SREBP) PE1 8 +NX_Q14541 Hepatocyte nuclear factor 4-gamma 408 45877 8.68 0 Nucleoplasm;Cytosol;Nucleus NA Transcription factor. Has a lower transcription activation potential than HNF4-alpha. NA Belongs to the nuclear hormone receptor family. NR2 subfamily. Maturity onset diabetes of the young;Regulation of gene expression in beta cells;Nuclear Receptor transcription pathway PE1 8 +NX_Q14542 Equilibrative nucleoside transporter 2 456 50113 5.76 11 Basolateral cell membrane;Nucleoplasm;Nucleus membrane NA Mediates equilibrative transport of purine, pyrimidine nucleosides and the purine base hypoxanthine. Very less sensitive than SLC29A1 to inhibition by nitrobenzylthioinosine (NBMPR), dipyridamole, dilazep and draflazine. NA Belongs to the SLC29A/ENT transporter (TC 2.A.57) family. Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane PE1 11 +NX_Q14549 Homeobox protein GBX-1 363 37629 7.04 0 Nucleus NA NA NA NA NA PE1 7 +NX_Q14554 Protein disulfide-isomerase A5 519 59594 8.08 0 Golgi apparatus;Cell membrane;Nucleolus;Nucleoplasm;Endoplasmic reticulum lumen NA NA NA Belongs to the protein disulfide isomerase family. XBP1(S) activates chaperone genes PE1 3 +NX_Q14558 Phosphoribosyl pyrophosphate synthase-associated protein 1 356 39394 6.73 0 Cytosol NA Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis. NA Belongs to the ribose-phosphate pyrophosphokinase family. NA PE1 17 +NX_Q14562 ATP-dependent RNA helicase DHX8 1220 139315 8.54 0 Nucleoplasm;Nucleus NA Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). Facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome (PubMed:8608946). NA Belongs to the DEAD box helicase family. DEAH subfamily. DDX8/PRP22 sub-subfamily. Spliceosome PE1 17 +NX_Q14563 Semaphorin-3A 771 88889 7.05 0 Nucleoplasm;Secreted;Cytoplasmic vesicle Hypogonadotropic hypogonadism 16 with or without anosmia Involved in the development of the olfactory system and in neuronal control of puberty. Induces the collapse and paralysis of neuronal growth cones. Could serve as a ligand that guides specific growth cones by a motility-inhibiting mechanism. Binds to the complex neuropilin-1/plexin-1. NA Belongs to the semaphorin family. Axon guidance;SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion;Sema3A PAK dependent Axon repulsion;CRMPs in Sema3A signaling PE1 7 +NX_Q14565 Meiotic recombination protein DMC1/LIM15 homolog 340 37681 5.62 0 Nucleoplasm;Nucleus;Chromosome NA May participate in meiotic recombination, specifically in homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks. NA Belongs to the RecA family. DMC1 subfamily. Meiotic recombination PE1 22 +NX_Q14566 DNA replication licensing factor MCM6 821 92889 5.29 0 Nucleoplasm;Nucleus NA Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. O-glycosylated (O-GlcNAcylated), in a cell cycle-dependent manner. Belongs to the MCM family. DNA replication;Cell cycle;Orc1 removal from chromatin;Activation of ATR in response to replication stress;Assembly of the pre-replicative complex;Activation of the pre-replicative complex;Unwinding of DNA;Switching of origins to a post-replicative state PE1 2 +NX_Q14568 Heat shock protein HSP 90-alpha A2 343 39365 4.57 0 Cytoplasm NA Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific target proteins. NA Belongs to the heat shock protein 90 family. NA PE1 11 +NX_Q14571 Inositol 1,4,5-trisphosphate receptor type 2 2701 308064 6.01 6 Endoplasmic reticulum;Nucleoplasm;Endoplasmic reticulum membrane Anhidrosis, isolated, with normal sweat glands Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity). Phosphorylation by cAMP-dependent PKA on Ser-937 increases calcium release. Belongs to the InsP3 receptor family. Calcium signaling pathway;Phosphatidylinositol signaling system;Oocyte meiosis;Vascular smooth muscle contraction;Gap junction;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;Dopaminergic synapse;Long-term depression;GnRH signaling pathway;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Alzheimer's disease;Effects of PIP2 hydrolysis;FCERI mediated Ca+2 mobilization;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Ca2+ pathway;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;VEGFR2 mediated cell proliferation;Regulation of insulin secretion;PLC beta mediated events;CLEC7A (Dectin-1) induces NFAT activation;Elevation of cytosolic Ca2+ levels;DAG and IP3 signaling;Ion homeostasis PE1 12 +NX_Q14573 Inositol 1,4,5-trisphosphate receptor type 3 2671 304106 6.05 6 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. Phosphorylated on tyrosine residues. Phosphorylated by AKT1 on serine and/or threonine residues (By similarity). Belongs to the InsP3 receptor family. Calcium signaling pathway;Phosphatidylinositol signaling system;Oocyte meiosis;Vascular smooth muscle contraction;Gap junction;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;Dopaminergic synapse;Long-term depression;Taste transduction;GnRH signaling pathway;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Alzheimer's disease;Effects of PIP2 hydrolysis;FCERI mediated Ca+2 mobilization;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Ca2+ pathway;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;VEGFR2 mediated cell proliferation;Regulation of insulin secretion;PLC beta mediated events;CLEC7A (Dectin-1) induces NFAT activation;Elevation of cytosolic Ca2+ levels;DAG and IP3 signaling;Ion homeostasis PE1 6 +NX_Q14574 Desmocollin-3 896 99969 5.77 1 Cell junction;Desmosome;Cell membrane Hypotrichosis and recurrent skin vesicles Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. NA NA Formation of the cornified envelope;Keratinization PE1 18 +NX_Q14576 ELAV-like protein 3 367 39547 9.33 0 NA NA RNA-binding protein that binds to AU-rich element (ARE) sequences of target mRNAs, including VEGF mRNA (PubMed:10710437). May also bind poly-A tracts via RRM 3 (By similarity). May be involved in neuronal differentiation and maintenance (By similarity). Plays a role in the stabilization of GAP43 mRNA and in spatial learning (By similarity). NA Belongs to the RRM elav family. NA PE1 19 +NX_Q14582 Max dimerization protein 4 209 23528 6.46 0 Cytosol;Nucleus NA Transcriptional repressor. Binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. Antagonizes MYC transcriptional activity by competing for MAX and suppresses MYC dependent cell transformation (By similarity). NA NA Nuclear signaling by ERBB4 PE1 4 +NX_Q14584 Zinc finger protein 266 549 62116 8.93 0 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q14585 Zinc finger protein 345 488 55383 8.7 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q14586 Zinc finger protein 267 743 87376 9.14 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_Q14587 Zinc finger protein 268 947 108374 9.14 0 Cytoplasm;Cytosol;Nucleus;Cytoskeleton NA Contributes to cervical carcinogenesis in part through the TNF-alpha-induced NF-kappa-B signaling pathway by interacting with the I-kappa-B-kinase (IKK) core complex.;Acts as a transcriptional repressor. Inhibits erythroid differentiation and tumor cell proliferation. Plays a role during ovarian cancer development and progression. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 12 +NX_Q14588 Zinc finger protein 234 700 80560 8.96 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q14590 Zinc finger protein 235 738 83977 8.91 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q14592 Zinc finger protein 460 562 63665 6.55 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q14593 Zinc finger protein 273 569 64971 9.62 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_Q14596 Next to BRCA1 gene 1 protein 966 107413 5.03 0 Cytoplasm;M line;Nucleoplasm;Autophagosome;Lysosome;Cytoplasmic vesicle;Nucleus NA Acts probably as a receptor for selective autophagosomal degradation of ubiquitinated targets. NA NA NA PE1 17 +NX_Q14602 Putative DNA-binding protein inhibitor ID-2B 36 4055 10.27 0 NA NA NA NA NA NA PE5 3 +NX_Q14623 Indian hedgehog protein 411 45251 8.98 0 Extracellular space;Cell membrane Acrocapitofemoral dysplasia;Brachydactyly A1 Intercellular signal essential for a variety of patterning events during development. Binds to the patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes. Implicated in endochondral ossification: may regulate the balance between growth and ossification of the developing bones. Induces the expression of parathyroid hormone-related protein (PTHRP) (By similarity). Cholesterylation is required for N-product targeting to lipid rafts and multimerization.;Palmitoylated. N-palmitoylation is required for N-product multimerization and full activity.;The C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity. Both activities result in the cleavage of the full-length protein and covalent attachment of a cholesterol moiety to the C-terminal of the newly generated N-terminal fragment (N-product). The N-product is the active species in both local and long-range signaling, whereas the C-product has no signaling activity (By similarity). Belongs to the hedgehog family. Hedgehog signaling pathway;Hedgehog ligand biogenesis;Hedgehog 'on' state;Class B/2 (Secretin family receptors);Activation of SMO;Release of Hh-Np from the secreting cell;Ligand-receptor interactions;HHAT G278V abrogates palmitoylation of Hh-Np;RUNX2 regulates chondrocyte maturation PE1 2 +NX_Q14624 Inter-alpha-trypsin inhibitor heavy chain H4 930 103357 6.51 0 Cytoplasmic vesicle;Secreted NA Type II acute-phase protein (APP) involved in inflammatory responses to trauma. May also play a role in liver development or regeneration. N- and O-glycosylated. In urine, O-linked glycosylation on threonine residues in the region from Thr-719 to Thr-725 consists of core 1 or possibly core 8 glycans. Mainly Hex(HexNAc)(2), but also some Hex(3)(HexNAc)(3). N-glycosylated but not O-glycosylated in plasma.;Cleaved by plasma kallikrein to yield 100 kDa and 35 kDa fragments, and the resulting 100 kDa fragment is further converted to a 70 kDa fragment. Belongs to the ITIH family. Platelet degranulation PE1 3 +NX_Q14626 Interleukin-11 receptor subunit alpha 422 45222 8.03 1 Membrane Craniosynostosis and dental anomalies Receptor for interleukin-11. The receptor systems for IL6, LIF, OSM, CNTF, IL11 and CT1 can utilize IL6ST for initiating signal transmission. The IL11/IL11RA/IL6ST complex may be involved in the control of proliferation and/or differentiation of skeletogenic progenitor or other mesenchymal cells. Essential for the normal development of craniofacial bones and teeth. Restricts suture fusion and tooth number. NA Belongs to the type I cytokine receptor family. Type 3 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Hematopoietic cell lineage;IL-6-type cytokine receptor ligand interactions PE1 9 +NX_Q14627 Interleukin-13 receptor subunit alpha-2 380 44176 4.84 1 Cell membrane;Cell junction;Membrane;Nucleoplasm;Cytoplasmic vesicle NA Binds as a monomer with high affinity to interleukin-13 (IL13), but not to interleukin-4 (IL4). NA Belongs to the type I cytokine receptor family. Type 5 subfamily. Jak-STAT signaling pathway;Interleukin-4 and Interleukin-13 signaling PE1 X +NX_Q14641 Early placenta insulin-like peptide 139 15445 9.28 0 Secreted NA May play an important role in trophoblast development and in the regulation of bone formation. NA Belongs to the insulin family. NA PE1 9 +NX_Q14642 Inositol polyphosphate-5-phosphatase A 412 47820 6.58 0 Endoplasmic reticulum;Cell membrane NA Phosphatase that specifically hydrolyzes the 5-phosphate of inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate, and inositol 1,3,4,5-tetrasphosphate to inositol 1,3,4-trisphosphate. NA Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type I family. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of IP2, IP, and Ins in the cytosol PE1 10 +NX_Q14643 Inositol 1,4,5-trisphosphate receptor type 1 2758 313929 5.71 6 Cytoplasmic vesicle;Secretory vesicle membrane;Endoplasmic reticulum membrane;Perinuclear region Spinocerebellar ataxia 15;Spinocerebellar ataxia 29;Gillespie syndrome Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate (PubMed:27108797). Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1 (By similarity). Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways (By similarity). Palmitoylated by ZDHHC6 in immune cells, leading to regulate ITPR1 stability and function.;Ubiquitination at multiple lysines targets ITPR1 for proteasomal degradation. Approximately 40% of the ITPR1-associated ubiquitin is monoubiquitin, and polyubiquitins are both 'Lys-48'- and 'Lys-63'-linked (By similarity).;Phosphorylated on tyrosine residues.;Phosphorylated by cAMP kinase (PKA). Phosphorylation prevents the ligand-induced opening of the calcium channels. Phosphorylation by PKA increases the interaction with inositol 1,4,5-trisphosphate and decreases the interaction with AHCYL1. Belongs to the InsP3 receptor family. Calcium signaling pathway;Phosphatidylinositol signaling system;Oocyte meiosis;Vascular smooth muscle contraction;Gap junction;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;Dopaminergic synapse;Long-term depression;GnRH signaling pathway;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Alzheimer's disease;Huntington's disease;Effects of PIP2 hydrolysis;FCERI mediated Ca+2 mobilization;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Ca2+ pathway;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Role of phospholipids in phagocytosis;VEGFR2 mediated cell proliferation;Regulation of insulin secretion;PLC beta mediated events;cGMP effects;CLEC7A (Dectin-1) induces NFAT activation;Elevation of cytosolic Ca2+ levels;DAG and IP3 signaling;Ion homeostasis PE1 3 +NX_Q14644 Ras GTPase-activating protein 3 834 95699 6.76 0 Cell membrane NA Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4) with high affinity. Might be a specific IP4 receptor. NA NA Regulation of RAS by GAPs;Signaling by RAS mutants PE1 13 +NX_Q14651 Plastin-1 629 70253 5.28 0 Cytoplasm NA Actin-bundling protein in the absence of calcium. Phosphorylated. NA NA PE1 3 +NX_Q14653 Interferon regulatory factor 3 427 47219 5.17 0 Cytoplasm;Cytosol;Nucleus Encephalopathy, acute, infection-induced, Herpes-specific, 7 Key transcriptional regulator of type I interferon (IFN)-dependent immune responses which plays a critical role in the innate immune response against DNA and RNA viruses (PubMed:22394562, PubMed:25636800, PubMed:27302953). Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters (PubMed:11846977, PubMed:16846591, PubMed:16979567, PubMed:20049431). Acts as a more potent activator of the IFN-beta (IFNB) gene than the IFN-alpha (IFNA) gene and plays a critical role in both the early and late phases of the IFNA/B gene induction (PubMed:16846591, PubMed:16979567, PubMed:20049431). Found in an inactive form in the cytoplasm of uninfected cells and following viral infection, double-stranded RNA (dsRNA), or toll-like receptor (TLR) signaling, is phosphorylated by IKBKE and TBK1 kinases (PubMed:22394562, PubMed:25636800, PubMed:27302953). This induces a conformational change, leading to its dimerization and nuclear localization and association with CREB binding protein (CREBBP) to form dsRNA-activated factor 1 (DRAF1), a complex which activates the transcription of the type I IFN and ISG genes (PubMed:16154084, PubMed:27302953). Can activate distinct gene expression programs in macrophages and can induce significant apoptosis in primary macrophages (PubMed:16846591). (Microbial infection) Phosphorylation and subsequent activation of IRF3 is inhibited by vaccinia virus protein E3.;Ubiquitinated; ubiquitination involves RBCK1 leading to proteasomal degradation. Polyubiquitinated; ubiquitination involves TRIM21 leading to proteasomal degradation.;ISGylated by HERC5 resulting in sustained IRF3 activation and in the inhibition of IRF3 ubiquitination by disrupting PIN1 binding. The phosphorylation state of IRF3 does not alter ISGylation.;Constitutively phosphorylated on many Ser/Thr residues (PubMed:22394562, PubMed:23478265, PubMed:23746807). Activated following phosphorylation by TBK1 and IKBKE (PubMed:23478265, PubMed:23746807, PubMed:25636800). Innate adapter protein MAVS, TMEM173/STING or TICAM1 are first activated by viral RNA, cytosolic DNA, and bacterial lipopolysaccharide (LPS), respectively, leading to activation of the kinases TBK1 and IKBKE (PubMed:25636800). These kinases then phosphorylate the adapter proteins on the pLxIS motif, leading to recruitment of IRF3, thereby licensing IRF3 for phosphorylation by TBK1 (PubMed:25636800). Phosphorylated IRF3 dissociates from the adapter proteins, dimerizes, and then enters the nucleus to induce IFNs (PubMed:25636800).;IRF3 is phosphorylated by IKBKB (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the IRF family. Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Pertussis;Hepatitis C;Measles;Influenza A;Herpes simplex infection;ISG15 antiviral mechanism;Interferon gamma signaling;Interferon alpha/beta signaling;TRAF6 mediated IRF7 activation;Negative regulators of DDX58/IFIH1 signaling;Regulation of innate immune responses to cytosolic DNA;IRF3-mediated induction of type I IFN;IRF3 mediated activation of type 1 IFN;TRAF3-dependent IRF activation pathway;Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production;TICAM1-dependent activation of IRF3/IRF7 PE1 19 +NX_Q14654 ATP-sensitive inward rectifier potassium channel 11 390 43541 8.15 2 Membrane Familial hyperinsulinemic hypoglycemia 2;Maturity-onset diabetes of the young 13;Diabetes mellitus, permanent neonatal;Transient neonatal diabetes mellitus 3 This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium (By similarity). Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with ABCC9. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation. Phosphorylation by MAPK1 results in changes in channel gating that destabilize the closed states and reduce the ATP sensitivity. Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ11 subfamily. ABC-family proteins mediated transport;Regulation of insulin secretion;ATP sensitive Potassium channels;Defective ABCC9 causes dilated cardiomyopathy 10, familial atrial fibrillation 12 and hypertrichotic osteochondrodysplasia;Ion homeostasis;Defective ABCC8 can cause hypoglycemias and hyperglycemias PE1 11 +NX_Q14656 Transmembrane protein 187 261 29148 9.05 6 Membrane;Golgi apparatus;Cytosol;Nucleolus NA NA NA NA NA PE1 X +NX_Q14657 EKC/KEOPS complex subunit LAGE3 143 14804 8.88 0 Cytoplasm;Nucleoplasm;Nucleus Galloway-Mowat syndrome 2, X-linked Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. LAGE3 functions as a dimerization module for the complex. NA Belongs to the CTAG/PCC1 family. tRNA modification in the nucleus and cytosol PE1 X +NX_Q14667 Protein KIAA0100 2235 253700 6.71 0 Cytosol;Nucleus speckle;Secreted NA May be involved in membrane trafficking. NA Belongs to the SABRE family. NA PE1 17 +NX_Q14669 E3 ubiquitin-protein ligase TRIP12 1992 220434 8.76 0 Nucleoplasm;Nucleus speckle Mental retardation, autosomal dominant 49 E3 ubiquitin-protein ligase involved in ubiquitin fusion degradation (UFD) pathway and regulation of DNA repair (PubMed:19028681, PubMed:22884692). Part of the ubiquitin fusion degradation (UFD) pathway, a process that mediates ubiquitination of protein at their N-terminus, regardless of the presence of lysine residues in target proteins (PubMed:19028681). Acts as a key regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard against excessive spreading of ubiquitinated chromatin at damaged chromosomes (PubMed:22884692). In normal cells, mediates ubiquitination and degradation of isoform p19ARF/ARF of CDKN2A, a lysine-less tumor suppressor required for p53/TP53 activation under oncogenic stress (PubMed:20208519). In cancer cells, however, isoform p19ARF/ARF and TRIP12 are located in different cell compartments, preventing isoform p19ARF/ARF ubiquitination and degradation (PubMed:20208519). Does not mediate ubiquitination of isoform p16-INK4a of CDKN2A (PubMed:20208519). Also catalyzes ubiquitination of NAE1 and SMARCE1, leading to their degradation (PubMed:18627766). Ubiquitination and degradation of target proteins is regulated by interaction with proteins such as MYC, TRADD or SMARCC1, which disrupt the interaction between TRIP12 and target proteins (PubMed:20829358). Mediates ubiquitination of ASXL1: following binding to N(6)-methyladenosine methylated DNA, ASXL1 is ubiquitinated by TRIP12, leading to its degradation and subsequent inactivation of the PR-DUB complex (PubMed:30982744). NA Belongs to the UPL family. K-HECT subfamily. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation PE1 2 +NX_Q14671 Pumilio homolog 1 1186 126473 6.35 0 Cytoplasm;Nucleoplasm;P-body;Cytosol;Cytoplasmic granule Spinocerebellar ataxia 47 Sequence-specific RNA-binding protein that acts as a post-transcriptional repressor by binding the 3'-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5'-UGUANAUA-3', that is related to the Nanos Response Element (NRE) (PubMed:21572425, PubMed:18328718, PubMed:21653694, PubMed:21397187). Mediates post-transcriptional repression of transcripts via different mechanisms: acts via direct recruitment of the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation (PubMed:22955276). Also mediates deadenylation-independent repression by promoting accessibility of miRNAs (PubMed:18776931, PubMed:20818387, PubMed:20860814, PubMed:22345517). Following growth factor stimulation, phosphorylated and binds to the 3'-UTR of CDKN1B/p27 mRNA, inducing a local conformational change that exposes miRNA-binding sites, promoting association of miR-221 and miR-222, efficient suppression of CDKN1B/p27 expression, and rapid entry to the cell cycle (PubMed:20818387). Acts as a post-transcriptional repressor of E2F3 mRNAs by binding to its 3'-UTR and facilitating miRNA regulation (PubMed:22345517, PubMed:29474920). Represses a program of genes necessary to maintain genomic stability such as key mitotic, DNA repair and DNA replication factors. Its ability to repress those target mRNAs is regulated by the lncRNA NORAD (non-coding RNA activated by DNA damage) which, due to its high abundance and multitude of PUMILIO binding sites, is able to sequester a significant fraction of PUM1 and PUM2 in the cytoplasm (PubMed:26724866). Involved in neuronal functions by regulating ATXN1 mRNA levels: acts by binding to the 3'-UTR of ATXN1 transcripts, leading to their down-regulation independently of the miRNA machinery (PubMed:25768905, PubMed:29474920). Plays a role in cytoplasmic sensing of viral infection (PubMed:25340845). In testis, acts as a post-transcriptional regulator of spermatogenesis by binding to the 3'-UTR of mRNAs coding for regulators of p53/TP53. Involved in embryonic stem cell renewal by facilitating the exit from the ground state: acts by targeting mRNAs coding for naive pluripotency transcription factors and accelerates their down-regulation at the onset of differentiation (By similarity). Binds specifically to miRNA MIR199A precursor, with PUM2, regulates miRNA MIR199A expression at a postranscriptional level (PubMed:28431233). Phosphorylation at Ser-714 promotes RNA-binding activity. Following growth factor stimulation phosphorylated at Ser-714, promoting binding to the 3'-UTR of CDKN1B/p27 mRNA. NA Golgi Associated Vesicle Biogenesis PE1 1 +NX_Q14674 Separin 2120 233175 7.65 0 Cytoplasm;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Caspase-like protease, which plays a central role in the chromosome segregation by cleaving the SCC1/RAD21 subunit of the cohesin complex at the onset of anaphase. During most of the cell cycle, it is inactivated by different mechanisms. Phosphorylated by CDK1. There are 8 Ser/Thr phosphorylation sites. Among them, Ser-1126 phosphorylation is the major site, which conducts to the enzyme inactivation.;Autocleaves. This function, which is not essential for its protease activity, is unknown. NA Cell cycle;Oocyte meiosis;Separation of Sister Chromatids PE1 12 +NX_Q14676 Mediator of DNA damage checkpoint protein 1 2089 226666 5.35 0 Nucleoplasm;Nucleus;Chromosome NA Required for checkpoint mediated cell cycle arrest in response to DNA damage within both the S phase and G2/M phases of the cell cycle. May serve as a scaffold for the recruitment of DNA repair and signal transduction proteins to discrete foci of DNA damage marked by 'Ser-139' phosphorylation of histone H2AFX. Also required for downstream events subsequent to the recruitment of these proteins. These include phosphorylation and activation of the ATM, CHEK1 and CHEK2 kinases, and stabilization of TP53 and apoptosis. ATM and CHEK2 may also be activated independently by a parallel pathway mediated by TP53BP1. Sumoylation at Lys-1840 by PIAS4 following DNA damage promotes ubiquitin-mediated degradation.;Ubiquitinated by RNF4, leading to proteasomal degradation; undergoes 'Lys-48'-linked polyubiquitination.;Phosphorylated upon exposure to ionizing radiation (IR), ultraviolet radiation (UV), and hydroxyurea (HU). Phosphorylation in response to IR requires ATM, NBN, and possibly CHEK2. Also phosphorylated during the G2/M phase of the cell cycle and during activation of the mitotic spindle checkpoint. Phosphorylation at Thr-4 by ATM stabilizes and enhances homodimerization via the FHA domain.;MDC1 is phosphorylated by MAPK3 NA SUMOylation of DNA damage response and repair proteins;G2/M DNA damage checkpoint;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);TP53 Regulates Transcription of DNA Repair Genes PE1 6 +NX_Q14677 Clathrin interactor 1 625 68259 6.01 0 Cytoplasm;Clathrin-coated vesicle;Membrane;Nucleoplasm;Cytoplasmic vesicle;Perinuclear region NA Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May have a role in transport via clathrin-coated vesicles from the trans-Golgi network to endosomes. Stimulates clathrin assembly. CLINT1 is phosphorylated by MAPK3 Belongs to the epsin family. Golgi Associated Vesicle Biogenesis PE1 5 +NX_Q14678 KN motif and ankyrin repeat domain-containing protein 1 1352 147289 5.18 0 Ruffle membrane;Cytoplasm;Nucleus;Cell membrane Cerebral palsy, spastic quadriplegic 2 Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin fiber formation and cell migration (PubMed:25961457). Inhibits RhoA activity; the function involves phosphorylation through PI3K/Akt signaling and may depend on the competetive interaction with 14-3-3 adapter proteins to sequester them from active complexes (PubMed:25961457). Inhibits the formation of lamellipodia but not of filopodia; the function may depend on the competetive interaction with BAIAP2 to block its association with activated RAC1 (PubMed:25961457). Inhibits fibronectin-mediated cell spreading; the function is partially mediated by BAIAP2. Inhibits neurite outgrowth. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. In the nucleus, is involved in beta-catenin-dependent activation of transcription. Potential tumor suppressor for renal cell carcinoma. Regulates Rac signaling pathways (PubMed:25961457). NA NA Estrogen-dependent gene expression PE1 9 +NX_Q14679 Tubulin polyglutamylase TTLL4 1199 133378 9.04 0 Mitochondrion;Cilium;Cilium basal body NA Glutamylase which preferentially modifies beta-tubulin and non-tubulin proteins, such as NAP1L1, NAP1L4 and CGAS. Involved in the side-chain initiation step of the polyglutamylation reaction rather than in the elongation step. Involved in formation of short side-chains. Mediates initiation of polyglutamylation of nucleosome assembly proteins NAP1L1 and NAP1L4. Also acts as a monoglutamylase: generates monoglutamylation of CGAS, leading to impair the nucleotidyltransferase activity of CGAS. NA Belongs to the tubulin--tyrosine ligase family. Carboxyterminal post-translational modifications of tubulin PE1 2 +NX_Q14680 Maternal embryonic leucine zipper kinase 651 74642 8.92 0 Cell membrane NA Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, self-renewal of stem cells, apoptosis and splicing regulation. Has a broad substrate specificity; phosphorylates BCL2L14, CDC25B, MAP3K5/ASK1 and ZNF622. Acts as an activator of apoptosis by phosphorylating and activating MAP3K5/ASK1. Acts as a regulator of cell cycle, notably by mediating phosphorylation of CDC25B, promoting localization of CDC25B to the centrosome and the spindle poles during mitosis. Plays a key role in cell proliferation and carcinogenesis. Required for proliferation of embryonic and postnatal multipotent neural progenitors. Phosphorylates and inhibits BCL2L14, possibly leading to affect mammary carcinogenesis by mediating inhibition of the pro-apoptotic function of BCL2L14. Also involved in the inhibition of spliceosome assembly during mitosis by phosphorylating ZNF622, thereby contributing to its redirection to the nucleus. May also play a role in primitive hematopoiesis. Autophosphorylated: autophosphorylation of the T-loop at Thr-167 and Ser-171 is required for activation. Thr-478 phosphorylation during mitosis promotes interaction with PPP1R8 (Probable). Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily. NA PE1 9 +NX_Q14681 BTB/POZ domain-containing protein KCTD2 263 28527 5.21 0 NA NA NA NA NA NA PE1 17 +NX_Q14683 Structural maintenance of chromosomes protein 1A 1233 143233 7.51 0 Kinetochore;Nucleoplasm;Nucleus;Chromosome Cornelia de Lange syndrome 2 Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Involved in DNA repair via its interaction with BRCA1 and its related phosphorylation by ATM, or via its phosphorylation by ATR. Works as a downstream effector both in the ATM/NBS1 branch and in the ATR/MSH2 branch of S-phase checkpoint. Phosphorylated by ATM upon ionizing radiation in a NBS1-dependent manner. Phosphorylated by ATR upon DNA methylation in a MSH2/MSH6-dependent manner. Phosphorylation of Ser-957 and Ser-966 activates it and is required for S-phase checkpoint activation. Belongs to the SMC family. SMC1 subfamily. Cell cycle;Oocyte meiosis;Separation of Sister Chromatids;SUMOylation of DNA damage response and repair proteins;Establishment of Sister Chromatid Cohesion;Cohesin Loading onto Chromatin;Resolution of Sister Chromatid Cohesion;Meiotic synapsis;Estrogen-dependent gene expression PE1 X +NX_Q14684 Ribosomal RNA processing protein 1 homolog B 758 84428 9.77 0 Nucleoplasm;Nucleolus;Chromosome NA (Microbial infection) Following influenza A virus (IAV) infection, promotes viral mRNA transcription by facilitating the binding of IAV RNA-directed RNA polymerase to capped mRNA.;Positively regulates DNA damage-induced apoptosis by acting as a transcriptional coactivator of proapoptotic target genes of the transcriptional activator E2F1 (PubMed:20040599). Likely to play a role in ribosome biogenesis by targeting serine/threonine protein phosphatase PP1 to the nucleolus (PubMed:20926688). Involved in regulation of mRNA splicing (By similarity). Inhibits SIPA1 GTPase activity (By similarity). Involved in regulating expression of extracellular matrix genes (By similarity). Associates with chromatin and may play a role in modulating chromatin structure (PubMed:19710015). Citrullinated by PADI4. Belongs to the RRP1 family. NA PE1 21 +NX_Q14686 Nuclear receptor coactivator 6 2063 219145 9.4 0 Nucleoplasm;Nucleus NA Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Coactivates expression in an agonist- and AF2-dependent manner. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ERs), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Probably functions as a general coactivator, rather than just a nuclear receptor coactivator. May also be involved in the coactivation of the NF-kappa-B pathway. May coactivate expression via a remodeling of chromatin and its interaction with histone acetyltransferase proteins. Phosphorylated by PRKDC.;Phosphorylation on Ser-884 leads to a strong decrease in binding to ESR1 and ESR2. NA PPARA activates gene expression;RORA activates gene expression;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;Activation of gene expression by SREBF (SREBP);Transcriptional regulation of white adipocyte differentiation;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 20 +NX_Q14687 Genetic suppressor element 1 1217 136164 7.36 0 Nucleoplasm;Mitochondrion NA NA NA NA NA PE1 16 +NX_Q14689 Disco-interacting protein 2 homolog A 1571 170369 8.35 0 Nucleoplasm;Nucleus NA May provide positional cues for axon pathfinding and patterning in the central nervous system. NA Belongs to the DIP2 family. NA PE1 21 +NX_Q14690 Protein RRP5 homolog 1871 208701 8.99 0 Cytoplasmic vesicle;Nucleolus NA Involved in the biogenesis of rRNA.;Essential for the generation of mature 18S rRNA, specifically necessary for cleavages at sites A0, 1 and 2 of the 47S precursor. Directly interacts with U3 snoRNA. NA NA rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 10 +NX_Q14691 DNA replication complex GINS protein PSF1 196 22988 6.96 0 Nucleoplasm;Nucleus Immunodeficiency 55 Required for correct functioning of the GINS complex, a complex that plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex seems to bind preferentially to single-stranded DNA. NA Belongs to the GINS1/PSF1 family. Unwinding of DNA PE1 20 +NX_Q14692 Ribosome biogenesis protein BMS1 homolog 1282 145807 6.04 0 Nucleoplasm;Nucleolus Aplasia cutis congenita, non-syndromic May act as a molecular switch during maturation of the 40S ribosomal subunit in the nucleolus. NA Belongs to the TRAFAC class translation factor GTPase superfamily. Bms1-like GTPase family. BMS1 subfamily. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 10 +NX_Q14693 Phosphatidate phosphatase LPIN1 890 98664 6.14 0 Cytosol;Endoplasmic reticulum membrane;Nucleus membrane;Cell membrane Myoglobinuria, acute recurrent, autosomal recessive Plays important roles in controlling the metabolism of fatty acids at different levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A/PPARA to modulate lipid metabolism gene expression (By similarity). Is involved in adipocyte differentiation. May also be involved in mitochondrial fission by converting phosphatidic acid to diacylglycerol (By similarity). Phosphorylated at multiple sites in response to insulin. Phosphorylation is controlled by the mTOR signaling pathway. Phosphorylation is decreased by epinephrine. Phosphorylation may not directly affect the catalytic activity but may regulate the localization. Dephosphorylated by the CTDNEP1-CNEP1R1 complex (By similarity).;Sumoylated. Belongs to the lipin family. Synthesis of PC;Synthesis of PE;Triglyceride biosynthesis;Depolymerisation of the Nuclear Lamina PE1 2 +NX_Q14694 Ubiquitin carboxyl-terminal hydrolase 10 798 87134 5.19 0 Cytoplasm;Early endosome;Nucleoplasm;Cytosol;Nucleus NA Hydrolase that can remove conjugated ubiquitin from target proteins such as p53/TP53, BECN1, SNX3 and CFTR. Acts as an essential regulator of p53/TP53 stability: in unstressed cells, specifically deubiquitinates p53/TP53 in the cytoplasm, leading to counteract MDM2 action and stabilize p53/TP53. Following DNA damage, translocates to the nucleus and deubiquitinates p53/TP53, leading to regulate the p53/TP53-dependent DNA damage response. Component of a regulatory loop that controls autophagy and p53/TP53 levels: mediates deubiquitination of BECN1, a key regulator of autophagy, leading to stabilize the PIK3C3/VPS34-containing complexes. In turn, PIK3C3/VPS34-containing complexes regulate USP10 stability, suggesting the existence of a regulatory system by which PIK3C3/VPS34-containing complexes regulate p53/TP53 protein levels via USP10 and USP13. Does not deubiquitinate MDM2. Deubiquitinates CFTR in early endosomes, enhancing its endocytic recycling. Involved in a TANK-dependent negative feedback response to attenuate NF-kappaB activation via deubiquitinating IKBKG or TRAF6 in response to interleukin-1-beta (IL1B) stimulation or upon DNA damage (PubMed:25861989). Deubiquitinates TBX21 leading to its stabilization (PubMed:24845384). Ubiquitinated. Deubiquitinated by USP13.;Phosphorylated by ATM following DNA damage, leading to stablization and translocation it to the nucleus. Belongs to the peptidase C19 family. USP10 subfamily. Termination of translesion DNA synthesis;Ub-specific processing proteases PE1 16 +NX_Q14695 Uncharacterized protein KIAA0087 138 14937 9.04 0 NA NA NA NA NA NA PE2 7 +NX_Q14696 LRP chaperone MESD 234 26077 7.6 0 Endoplasmic reticulum;Cytosol;Nucleus NA Chaperone specifically assisting the folding of beta-propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs). Acts as a modulator of the Wnt pathway through chaperoning the coreceptors of the canonical Wnt pathway, LRP5 and LRP6, to the plasma membrane. Essential for specification of embryonic polarity and mesoderm induction. Plays an essential role in neuromuscular junction (NMJ) formation by promoting cell-surface expression of LRP4 (By similarity). May regulate phagocytosis of apoptotic retinal pigment epithelium (RPE) cells (By similarity). NA Belongs to the MESD family. NA PE1 15 +NX_Q14697 Neutral alpha-glucosidase AB 944 106874 5.74 0 Golgi apparatus;Endoplasmic reticulum;Melanosome Polycystic kidney disease 3 with or without polycystic liver disease Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for PKD1/Polycystin-1 and PKD2/Polycystin-2 maturation and localization to the cell surface and cilia (PubMed:27259053). NA Belongs to the glycosyl hydrolase 31 family. Glycan metabolism; N-glycan metabolism.;N-Glycan biosynthesis;Metabolic pathways;Protein processing in endoplasmic reticulum;N-glycan trimming in the ER and Calnexin/Calreticulin cycle;Calnexin/calreticulin cycle PE1 11 +NX_Q14699 Raftlin 578 63146 5.46 0 Cytoplasm;Cell membrane;Early endosome;Endosome;Membrane raft NA Involved in protein trafficking via association with clathrin and AP2 complex (PubMed:27022195, PubMed:21266579). Upon bacterial lipopolysaccharide stimulation, mediates internalization of TLR4 to endosomes in dendritic cells and macrophages; and internalization of poly(I:C) to TLR3-positive endosomes in myeloid dendritic cells and epithelial cells; resulting in activation of TICAM1-mediated signaling and subsequent IFNB1 production (PubMed:27022195, PubMed:21266579). Involved in T-cell antigen receptor-mediated signaling by regulating tyrosine kinase LCK localization, T-cell dependent antibody production and cytokine secretion (By similarity). May regulate B-cell antigen receptor-mediated signaling (PubMed:12805216). May play a pivotal role in the formation and/or maintenance of lipid rafts (PubMed:12805216). NA Belongs to the raftlin family. NA PE1 3 +NX_Q14703 Membrane-bound transcription factor site-1 protease 1052 117749 8.91 1 Endoplasmic reticulum membrane;Golgi apparatus membrane Spondyloepiphyseal dysplasia, Kondo-Fu type Serine protease that catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs). Other known substrates are BDNF, GNPTAB and ATF6. Cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4. Cleaves known substrates after Arg-Ser-Val-Leu (SERBP-2), Arg-His-Leu-Leu (ATF6), Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu. Mediates the protein cleavage of GNPTAB into subunit alpha and beta, thereby participating in biogenesis of lysosomes. Involved in the regulation of M6P-dependent Golgi-to-lysosome trafficking of lysosomal enzymes (PubMed:30046013). It is required for the activation of CREB3L2/BBF2H7, a transcriptional activator of MIA3/TANGO and other genes controlling mega vesicle formation. Therefore, it plays a key role in the regulation of mega vesicle-mediated collagen trafficking (PubMed:30046013). The 148 kDa zymogen is processed progressively into two membrane-bound 120 and 106 kDa forms in the endoplasmic reticulum, and late into a secreted 98 kDa form. The propeptide is autocatalytically removed through an intramolecular cleavage after Leu-186. Further cleavage generates 14, 10, and 8 kDa intermediates. Belongs to the peptidase S8 family. Protein processing in endoplasmic reticulum;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Regulation of cholesterol biosynthesis by SREBP (SREBF);ATF6 (ATF6-alpha) activates chaperones;CREB3 factors activate genes;Post-translational protein phosphorylation;Assembly of active LPL and LIPC lipase complexes PE1 16 +NX_Q14714 Sarcospan 243 26618 8.12 4 Postsynaptic cell membrane;Cell membrane;Nucleus membrane;Endoplasmic reticulum;Nucleoplasm;Sarcolemma NA Component of the dystrophin-glycoprotein complex (DGC), a complex that spans the muscle plasma membrane and forms a link between the F-actin cytoskeleton and the extracellular matrix. Preferentially associates with the sarcoglycan subcomplex of the DGC. NA NA NA PE1 12 +NX_Q14721 Potassium voltage-gated channel subfamily B member 1 858 95878 8.32 6 Lateral cell membrane;Synaptosome;Postsynaptic cell membrane;Cell membrane;Perikaryon;Membrane;Synapse;Dendrite;Axon;Sarcolemma Epileptic encephalopathy, early infantile, 26 Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain, but also in the pancreas and cardiovascular system. Contributes to the regulation of the action potential (AP) repolarization, duration and frequency of repetitive AP firing in neurons, muscle cells and endocrine cells and plays a role in homeostatic attenuation of electrical excitability throughout the brain (PubMed:23161216). Plays also a role in the regulation of exocytosis independently of its electrical function (By similarity). Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarization (PubMed:8081723, PubMed:1283219, PubMed:10484328, PubMed:12560340, PubMed:19074135, PubMed:19717558, PubMed:24901643). Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNB2; channel properties depend on the type of alpha subunits that are part of the channel (By similarity). Can also form functional heterotetrameric channels with other alpha subunits that are non-conducting when expressed alone, such as KCNF1, KCNG1, KCNG3, KCNG4, KCNH1, KCNH2, KCNS1, KCNS2, KCNS3 and KCNV1, creating a functionally diverse range of channel complexes (PubMed:10484328, PubMed:11852086, PubMed:12060745, PubMed:19074135, PubMed:19717558, PubMed:24901643). Heterotetrameric channel activity formed with KCNS3 show increased current amplitude with the threshold for action potential activation shifted towards more negative values in hypoxic-treated pulmonary artery smooth muscle cells (By similarity). Channel properties are also modulated by cytoplasmic ancillary beta subunits such as AMIGO1, KCNE1, KCNE2 and KCNE3, slowing activation and inactivation rate of the delayed rectifier potassium channels (By similarity). In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Major contributor to the slowly inactivating delayed-rectifier voltage-gated potassium current in neurons of the central nervous system, sympathetic ganglion neurons, neuroendocrine cells, pancreatic beta cells, cardiomyocytes and smooth muscle cells. Mediates the major part of the somatodendritic delayed-rectifier potassium current in hippocampal and cortical pyramidal neurons and sympathetic superior cervical ganglion (CGC) neurons that acts to slow down periods of firing, especially during high frequency stimulation. Plays a role in the induction of long-term potentiation (LTP) of neuron excitability in the CA3 layer of the hippocampus (By similarity). Contributes to the regulation of glucose-induced action potential amplitude and duration in pancreatic beta cells, hence limiting calcium influx and insulin secretion (PubMed:23161216). Plays a role in the regulation of resting membrane potential and contraction in hypoxia-treated pulmonary artery smooth muscle cells. May contribute to the regulation of the duration of both the action potential of cardiomyocytes and the heart ventricular repolarization QT interval. Contributes to the pronounced pro-apoptotic potassium current surge during neuronal apoptotic cell death in response to oxidative injury. May confer neuroprotection in response to hypoxia/ischemic insults by suppressing pyramidal neurons hyperexcitability in hippocampal and cortical regions (By similarity). Promotes trafficking of KCNG3, KCNH1 and KCNH2 to the cell surface membrane, presumably by forming heterotetrameric channels with these subunits (PubMed:12060745). Plays a role in the calcium-dependent recruitment and release of fusion-competent vesicles from the soma of neurons, neuroendocrine and glucose-induced pancreatic beta cells by binding key components of the fusion machinery in a pore-independent manner (By similarity). Acetylated. Acetylation occurs in pancreatic beta cells in response to stimulation by incretin hormones in a histone acetyltransferase (HAT)/histone deacetylase (HDAC)-dependent signaling pathway, promoting beta cell survival.;Phosphorylated. Differential C-terminal phosphorylation on a subset of serines allows graded activity-dependent regulation of channel gating in hippocampal neurons. Ser-607 and Tyr-128 are significant sites of voltage-gated regulation through phosphorylation/dephosphorylation activities. Tyr-128 can be phosphorylated by Src and dephosphorylated by cytoplasmic form of the phosphatase PTPRE. CDK5-induced Ser-607 phosphorylation increases in response to acute blockade of neuronal activity. Phosphorylated on Tyr-128 by Src and on Ser-805 by MAPK14/P38MAPK; phosphorylations are necessary and sufficient for an increase in plasma membrane insertion, apoptotic potassium current surge and completion of the neuronal cell death program. Phosphorylated on Ser-520, Ser-607, Ser-656 and Ser-805 by CDK5; phosphorylation is necessary for KCNB1 channel clustering formation. The Ser-607 phosphorylation state differs between KCNB1-containing clusters on the proximal and distal portions of the axon initial segment (AIS). Highly phosphorylated on serine residues in the C-terminal cytoplasmic tail in resting neurons. Phosphorylated in pancreatic beta cells in response to incretin hormones stimulation in a PKA- and RPS6KA5/MSK1-dependent signaling pathway, promoting beta cell survival. Phosphorylation on Ser-567 is reduced during postnatal development with low levels at P2 and P5; levels then increase to reach adult levels by P14. Phosphorylation on Ser-457, Ser-541, Ser-567, Ser-607, Ser-656 and Ser-720 as well as the N-terminal Ser-15 are sensitive to calcineurin-mediated dephosphorylation contributing to the modulation of the voltage-dependent gating properties. Dephosphorylation by phosphatase PTPRE confers neuroprotection by its inhibitory influence on the neuronal apoptotic potassium current surge in a Zn(2+)-dependent manner. Dephosphorylated at Ser-607 by protein phosphatase PPP1CA. Hypoxia-, seizure- or glutamate-induced neuronal activity promote calcium/calcineurin-dependent dephosphorylation resulting in a loss of KCNB1-containing clustering and enhanced channel activity. In response to brain ischemia, Ser-567 and Ser-607 are strongly dephosphorylated while Ser-457 and Ser-720 are less dephosphorylated. In response to brain seizures, phosphorylation levels on Ser-567 and Ser-607 are greatly reduced. Phosphorylated/dephosphorylated by Src or FYN tyrosine-protein kinases and tyrosine phosphatase PTPRE in primary Schwann cells and sciatic nerve tissue (By similarity).;Sumoylated on Lys-474, preferentially with SUMO1; sumoylation induces a positive shift in the voltage-dependence of activation and inhibits channel activity (PubMed:19223394). Sumoylation increases the frequency of repetitive action potential firing at the cell surface of hippocampal neurons and decreases its frequency in pancreatic beta cells (PubMed:19223394). Desumoylated by SENP1 (PubMed:19223394). Belongs to the potassium channel family. B (Shab) (TC 1.A.1.2) subfamily. Kv2.1/KCNB1 sub-subfamily. Taste transduction;Voltage gated Potassium channels;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion PE1 20 +NX_Q14722 Voltage-gated potassium channel subunit beta-1 419 46563 9.1 0 Cytoplasm;Cell membrane;Membrane;Nucleoplasm;Cytoplasmic vesicle NA Has no effect on KCNA1, KCNA2 or KCNB1 (PubMed:7890032, PubMed:7890764). Enhances KCNB1 and KCNB2 channel activity (By similarity). Binds NADPH; this is required for efficient down-regulation of potassium channel activity (PubMed:17540341). Has NADPH-dependent aldoketoreductase activity (By similarity). Oxidation of the bound NADPH strongly decreases N-type inactivation of potassium channel activity (By similarity).;Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits (PubMed:7499366, PubMed:7603988, PubMed:17156368,PubMed:17540341, PubMed:19713757). Modulates action potentials via its effect on the pore-forming alpha subunits (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Mediates closure of delayed rectifier potassium channels by physically obstructing the pore via its N-terminal domain and increases the speed of channel closure for other family members (PubMed:9763623). Promotes the closure of KCNA1, KCNA2 and KCNA5 channels (PubMed:7499366, PubMed:7890032, PubMed:7603988, PubMed:7649300, PubMed:8938711, PubMed:12077175, PubMed:12130714, PubMed:15361858, PubMed:17540341, PubMed:19713757). Accelerates KCNA4 channel closure (PubMed:7890032, PubMed:7649300, PubMed:7890764, PubMed:9763623). Accelerates the closure of heteromeric channels formed by KCNA1 and KCNA4 (PubMed:17156368). Accelerates the closure of heteromeric channels formed by KCNA2, KCNA5 and KCNA6 (By similarity). NA Belongs to the shaker potassium channel beta subunit family. Voltage gated Potassium channels PE1 3 +NX_Q14728 Major facilitator superfamily domain-containing protein 10 455 48339 9.68 11 Nucleus inner membrane;Nucleoplasm;Nucleus membrane NA Confers cellular resistance to apoptosis induced by the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. May act as an efflux pump. NA Belongs to the major facilitator superfamily. NA PE1 4 +NX_Q14738 Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform 602 69992 8.24 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus Mental retardation, autosomal dominant 35 The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. NA Belongs to the phosphatase 2A regulatory subunit B56 family. mRNA surveillance pathway;Oocyte meiosis;Wnt signaling pathway;Dopaminergic synapse;Degradation of beta-catenin by the destruction complex;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Negative regulation of MAPK pathway;RAF activation;DARPP-32 events;Disassembly of the destruction complex and recruitment of AXIN to the membrane;CTLA4 inhibitory signaling;Beta-catenin phosphorylation cascade;Misspliced GSK3beta mutants stabilize beta-catenin;S33 mutants of beta-catenin aren't phosphorylated;S37 mutants of beta-catenin aren't phosphorylated;S45 mutants of beta-catenin aren't phosphorylated;T41 mutants of beta-catenin aren't phosphorylated;APC truncation mutants have impaired AXIN binding;AXIN missense mutants destabilize the destruction complex;Truncations of AMER1 destabilize the destruction complex;Platelet sensitization by LDL;ERK/MAPK targets;Integration of energy metabolism;PP2A-mediated dephosphorylation of key metabolic factors;ERKs are inactivated;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Regulation of glycolysis by fructose 2,6-bisphosphate metabolism PE1 6 +NX_Q14739 Delta(14)-sterol reductase LBR 615 70703 9.41 8 Cytoplasm;Endoplasmic reticulum membrane;Nucleus membrane;Nucleus inner membrane;Nucleus Pelger-Huet anomaly;Reynolds syndrome;Pelger-Huet anomaly with mild skeletal anomalies;Greenberg dysplasia Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (PubMed:9630650, PubMed:12618959, PubMed:16784888, PubMed:21327084, PubMed:27336722). Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation (By similarity). Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid raft formation during neutrophil differentiation (By similarity). Anchors the lamina and the heterochromatin to the inner nuclear membrane (PubMed:10828963). Phosphorylated by CDK1 in mitosis when the inner nuclear membrane breaks down into vesicles that dissociate from the lamina and the chromatin. It is phosphorylated by different protein kinases in interphase when the membrane is associated with these structures. Phosphorylation of LBR and HP1 proteins may be responsible for some of the alterations in chromatin organization and nuclear structure which occur at various times during the cell cycle. Phosphorylated by SRPK1. In late anaphase LBR is dephosphorylated, probably by PP1 and/or PP2A, allowing reassociation with chromatin.;LBR is phosphorylated by SRPK3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);LBR is phosphorylated by SRPK1 (Phosphoserine:PTM-0253) Belongs to the ERG4/ERG24 family. Steroid biosynthesis; cholesterol biosynthesis.;Cholesterol biosynthesis;Regulation of MECP2 expression and activity PE1 1 +NX_Q14746 Conserved oligomeric Golgi complex subunit 2 738 83208 6.2 0 Golgi apparatus;Golgi apparatus membrane Congenital disorder of glycosylation 2Q Required for normal Golgi morphology and function. NA Belongs to the COG2 family. Intra-Golgi traffic;COPI-mediated anterograde transport;Retrograde transport at the Trans-Golgi-Network PE1 1 +NX_Q14749 Glycine N-methyltransferase 295 32742 6.55 0 Cytoplasm;Cytosol Glycine N-methyltransferase deficiency Catalyzes the methylation of glycine by using S-adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy). Possible crucial role in the regulation of tissue concentration of AdoMet and of metabolism of methionine. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. Glycine N-methyltransferase family. Glycine, serine and threonine metabolism;Glyoxylate metabolism and glycine degradation;Metabolism of ingested SeMet, Sec, MeSec into H2Se PE1 6 +NX_Q14761 Protein tyrosine phosphatase receptor type C-associated protein 206 21196 4.39 1 Membrane NA NA Phosphorylated on tyrosine residues. NA NA PE1 11 +NX_Q14764 Major vault protein 893 99327 5.34 0 Cytoplasm;Cytosol;Perinuclear region;Nuclear pore complex NA Required for normal vault structure. Vaults are multi-subunit structures that may act as scaffolds for proteins involved in signal transduction. Vaults may also play a role in nucleo-cytoplasmic transport. Down-regulates IFNG-mediated STAT1 signaling and subsequent activation of JAK. Down-regulates SRC activity and signaling through MAP kinases. Dephosphorylated by PTPN11.;Phosphorylated on Tyr residues after EGF stimulation.;MVP is phosphorylated by SRC NA Neutrophil degranulation PE1 16 +NX_Q14765 Signal transducer and activator of transcription 4 748 85941 6.2 0 Cytoplasm;Nucleus Systemic lupus erythematosus 11;Rheumatoid arthritis Carries out a dual function: signal transduction and activation of transcription. Involved in IL12 signaling. Tyrosine phosphorylated. Serine phosphorylation is also required for maximal transcriptional activity (By similarity). Belongs to the transcription factor STAT family. Jak-STAT signaling pathway;Interleukin-20 family signaling;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation;Interleukin-35 Signalling;Interleukin-12 signaling;Interleukin-23 signaling;Interleukin-21 signaling PE1 2 +NX_Q14766 Latent-transforming growth factor beta-binding protein 1 1721 186796 5.63 0 Cytosol;Extracellular matrix;Secreted NA Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space (PubMed:2022183, PubMed:8617200, PubMed:8939931). Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta (PubMed:8617200, PubMed:8939931, PubMed:15184403). Outcompeted by LRRC32/GARP for binding to LAP regulatory chain of TGF-beta (PubMed:22278742). Two intrachain disulfide bonds from the TB3 domain are rearranged upon TGFB1 binding, and form interchain bonds with TGFB1 propeptide, anchoring it to the extracellular matrix.;N-terminus is blocked.;Contains hydroxylated asparagine residues. Belongs to the LTBP family. TGF-beta signaling pathway;Molecules associated with elastic fibres;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 2 +NX_Q14767 Latent-transforming growth factor beta-binding protein 2 1821 195052 5.06 0 Nucleoplasm;Extracellular matrix Glaucoma 3, primary congenital, D;Weill-Marchesani syndrome 3;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma May play an integral structural role in elastic-fiber architectural organization and/or assembly. Contains hydroxylated asparagine residues.;N-Glycosylated. Belongs to the LTBP family. Molecules associated with elastic fibres PE1 14 +NX_Q14773 Intercellular adhesion molecule 4 271 29265 10.13 1 Secreted;Cell membrane NA ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM4 is also a ligand for alpha-4/beta-1 and alpha-V integrins. N- and O-glycosylated. Belongs to the immunoglobulin superfamily. ICAM family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Integrin cell surface interactions PE1 19 +NX_Q14774 H2.0-like homeobox protein 488 50789 8.7 0 Nucleoplasm;Cytosol;Nucleus NA Transcription factor required for TBX21/T-bet-dependent maturation of Th1 cells as well as maintenance of Th1-specific gene expression. Involved in embryogenesis and hematopoiesis (By similarity). NA Belongs to the H2.0 homeobox family. NA PE1 1 +NX_Q14781 Chromobox protein homolog 2 532 56081 10.02 0 Nucleoplasm;Nucleus;Chromosome 46,XY sex reversal 5 Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development (PubMed:21282530). PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:21282530). Binds to histone H3 trimethylated at 'Lys-9' (H3K9me3) or at 'Lys-27' (H3K27me3) (By similarity). Plays a role in the lineage differentiation of the germ layers in embryonic development (By similarity). Involved in sexual development, acting as activator of NR5A1 expression (PubMed:19361780). NA NA SUMOylation of DNA damage response and repair proteins;Oxidative Stress Induced Senescence;SUMOylation of RNA binding proteins;SUMOylation of chromatin organization proteins;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known;Regulation of PTEN gene transcription;SUMOylation of transcription cofactors;SUMOylation of DNA methylation proteins PE1 17 +NX_Q14789 Golgin subfamily B member 1 3259 376019 4.96 1 Golgi apparatus;Golgi apparatus membrane NA May participate in forming intercisternal cross-bridges of the Golgi complex. NA NA Golgi Associated Vesicle Biogenesis;COPI-mediated anterograde transport PE1 3 +NX_Q14790 Caspase-8 479 55391 5 0 Cytoplasm;Nucleoplasm;Cytosol Caspase-8 deficiency Lack the catalytic site and may interfere with the pro-apoptotic activity of the complex.;Most upstream protease of the activation cascade of caspases responsible for the TNFRSF6/FAS mediated and TNFRSF1A induced cell death. Binding to the adapter molecule FADD recruits it to either receptor. The resulting aggregate called death-inducing signaling complex (DISC) performs CASP8 proteolytic activation. The active dimeric enzyme is then liberated from the DISC and free to activate downstream apoptotic proteases. Proteolytic fragments of the N-terminal propeptide (termed CAP3, CAP5 and CAP6) are likely retained in the DISC. Cleaves and activates CASP3, CASP4, CASP6, CASP7, CASP9 and CASP10. May participate in the GZMB apoptotic pathways. Cleaves ADPRT. Hydrolyzes the small-molecule substrate, Ac-Asp-Glu-Val-Asp-|-AMC. Likely target for the cowpox virus CRMA death inhibitory protein. Phosphorylation on Ser-387 during mitosis by CDK1 inhibits activation by proteolysis and prevents apoptosis. This phosphorylation occurs in cancer cell lines, as well as in primary breast tissues and lymphocytes.;Generation of the subunits requires association with the death-inducing signaling complex (DISC), whereas additional processing is likely due to the autocatalytic activity of the activated protease. GZMB and CASP10 can be involved in these processing events. Belongs to the peptidase C14A family. p53 signaling pathway;Apoptosis;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Alzheimer's disease;Huntington's disease;Legionellosis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Tuberculosis;Herpes simplex infection;Pathways in cancer;Viral myocarditis;NOD1/2 Signaling Pathway;Caspase-mediated cleavage of cytoskeletal proteins;Activation, myristolyation of BID and translocation to mitochondria;Apoptotic cleavage of cellular proteins;CLEC7A/inflammasome pathway;TNFR1-induced proapoptotic signaling;Caspase activation via Death Receptors in the presence of ligand;TRIF-mediated programmed cell death;NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10;Regulation by c-FLIP;RIPK1-mediated regulated necrosis;CASP8 activity is inhibited;Dimerization of procaspase-8;TRAIL signaling;Regulation of necroptotic cell death;FasL/ CD95L signaling;Apoptotic execution phase;Regulation of TNFR1 signaling;TLR3-mediated TICAM1-dependent programmed cell death PE1 2 +NX_Q147U1 Zinc finger protein 846 533 60552 9.21 0 Nucleus;Cytoskeleton NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q147U7 Single-pass membrane and coiled-coil domain-containing protein 1 214 24598 9.2 1 Membrane NA NA NA NA NA PE2 3 +NX_Q147X3 N-alpha-acetyltransferase 30 362 39320 5.38 0 Cytoplasm;Cytosol;Nucleus NA Catalytic subunit of the N-terminal acetyltransferase C (NatC) complex. Catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Leu-Ala and Met-Leu-Gly. Necessary for the lysosomal localization and function of ARL8B sugeesting that ARL8B is a NatC substrate. NA Belongs to the acetyltransferase family. MAK3 subfamily. Retrograde transport at the Trans-Golgi-Network PE1 14 +NX_Q14802 FXYD domain-containing ion transport regulator 3 87 9263 6.8 1 Nucleoplasm;Cell membrane NA Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell (PubMed:17077088). Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1 (PubMed:21454534). Induces a hyperpolarization-activated chloride current when expressed in Xenopus oocytes (PubMed:7836447).;Decreases the apparent K+ affinity of the sodium/potassium-transporting ATPase only at slightly negative and positive membrane potentials and increases the apparent Na+ affinity over a large range of membrane potentials.;Decreases the apparent K+ and Na+ affinity of the sodium/potassium-transporting ATPase over a large range of membrane potentials. Glutathionylated. Belongs to the FXYD family. Ion transport by P-type ATPases;Ion homeostasis PE1 19 +NX_Q14807 Kinesin-like protein KIF22 665 73262 9.5 0 Nucleus speckle;Nucleus;Cytoskeleton Spondyloepimetaphyseal dysplasia with joint laxity, 2 Kinesin family member that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA (By similarity). Plays a role in congression of laterally attached chromosomes in NDC80-depleted cells (PubMed:25743205). Ubiquitinated; mediated by SIAH1 and leading to its subsequent proteasomal degradation. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. MHC class II antigen presentation;Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 16 +NX_Q14814 Myocyte-specific enhancer factor 2D 521 55938 7.73 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. Plays a critical role in the regulation of neuronal apoptosis (By similarity). Acetylated on Lys-439 by CREBBP. Acetylated by EP300. Deacetylated by SIRT1 and HDAC3.;Sumoylated on Lys-439 with SUMO2 but not SUMO1; which inhibits transcriptional activity and myogenic activity. Desumoylated by SENP3.;Proteolytically cleaved in cerebellar granule neurons on several sites by caspase 7 following neurotoxicity. Preferentially cleaves the CDK5-mediated hyperphosphorylated form which leads to neuron apoptosis and transcriptional inactivation (By similarity).;Phosphorylated on Ser-444 by CDK5 is required for Lys-439 sumoylation and inhibits transcriptional activity. In neurons, enhanced CDK5 activity induced by neurotoxins promotes caspase 3-mediated cleavage leading to neuron apoptosis. Phosphorylation on Ser-180 can be enhanced by EGF. Phosphorylated and activated by CaMK4.;MEF2D is phosphorylated by CAMK4 Belongs to the MEF2 family. Circadian Clock;Transcriptional activation of mitochondrial biogenesis;Myogenesis PE1 1 +NX_Q14831 Metabotropic glutamate receptor 7 915 102251 8.2 7 Cytosol;Cell membrane NA G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. NA Belongs to the G-protein coupled receptor 3 family. Neuroactive ligand-receptor interaction;Glutamatergic synapse;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 3 +NX_Q14832 Metabotropic glutamate receptor 3 879 98879 7.93 7 Cell membrane NA G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling inhibits adenylate cyclase activity. NA Belongs to the G-protein coupled receptor 3 family. Neuroactive ligand-receptor interaction;Glutamatergic synapse;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 7 +NX_Q14833 Metabotropic glutamate receptor 4 912 101868 9.07 7 Cell membrane NA G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling inhibits adenylate cyclase activity. NA Belongs to the G-protein coupled receptor 3 family. Neuroactive ligand-receptor interaction;Glutamatergic synapse;Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 6 +NX_Q14839 Chromodomain-helicase-DNA-binding protein 4 1912 218005 5.62 0 Centrosome;Nucleus Sifrim-Hitz-Weiss syndrome Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones. NA Belongs to the SNF2/RAD54 helicase family. RNA Polymerase I Transcription Initiation;HDACs deacetylate histones;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Regulation of TP53 Activity through Acetylation;Regulation of PTEN gene transcription PE1 12 +NX_Q14847 LIM and SH3 domain protein 1 261 29717 6.61 0 Cytoplasm;Cell cortex;Cell membrane;Focal adhesion;Cytosol;Cytoskeleton NA Plays an important role in the regulation of dynamic actin-based, cytoskeletal activities. Agonist-dependent changes in LASP1 phosphorylation may also serve to regulate actin-associated ion transport activities, not only in the parietal cell but also in certain other F-actin-rich secretory epithelial cell types (By similarity). NA NA NA PE1 17 +NX_Q14849 StAR-related lipid transfer protein 3 445 50502 8.53 4 Endoplasmic reticulum;Nucleoplasm;Late endosome membrane;Cytoplasmic vesicle NA Sterol-binding protein that mediates cholesterol transport from the endoplasmic reticulum to endosomes (PubMed:11053434, PubMed:15930133, PubMed:22514632, PubMed:28377464). Creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB (PubMed:24105263, PubMed:28377464). Acts as a lipid transfer protein that redirects sterol to the endosome at the expense of the cell membrane and favors membrane formation inside endosomes (PubMed:28377464). May also mediate cholesterol transport between other membranes, such as mitochondria membrane or cell membrane (PubMed:12070139, PubMed:19965586). However, such results need additional experimental evidences; probably mainly mediates cholesterol transport from the endoplasmic reticulum to endosomes (PubMed:28377464). Does not activate transcriptional cholesterol sensing (PubMed:28377464). Able to bind other lipids, such as lutein, a xanthophyll carotenoids that form the macular pigment of the retina (PubMed:21322544). NA Belongs to the STARD3 family. Pregnenolone biosynthesis PE1 17 +NX_Q14863 POU domain, class 6, transcription factor 1 301 32645 9.24 0 Nucleus;Cytoskeleton NA Transcription factor that binds preferentially to a variant of the octamer motif (5'-ATGATAAT-3'). NA Belongs to the POU transcription factor family. Class-6 subfamily. NA PE1 12 +NX_Q14865 AT-rich interactive domain-containing protein 5B 1188 132375 8.89 0 Cell membrane;Nucleoplasm;Endoplasmic reticulum;Cytosol;Nucleus Leukemia, acute lymphoblastic Transcription coactivator that binds to the 5'-AATA[CT]-3' core sequence and plays a key role in adipogenesis and liver development. Acts by forming a complex with phosphorylated PHF2, which mediates demethylation at Lys-336, leading to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes. The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver. Required for adipogenesis: regulates triglyceride metabolism in adipocytes by regulating expression of adipogenic genes. Overexpression leads to induction of smooth muscle marker genes, suggesting that it may also act as a regulator of smooth muscle cell differentiation and proliferation. Represses the cytomegalovirus enhancer. Methylation at Lys-336 prevents DNA-binding. Demethylation by PHF2 promotes recruitment of the PHF2-ARID5B complex to promoters. Belongs to the ARID5B family. HDMs demethylate histones PE1 10 +NX_Q14872 Metal regulatory transcription factor 1 753 80957 5.14 0 Nucleoplasm;Nucleus NA Activates the metallothionein I promoter. Binds to the metal responsive element (MRE). NA NA PPARA activates gene expression;Activation of gene expression by SREBF (SREBP);MTF1 activates gene expression PE1 1 +NX_Q14894 Ketimine reductase mu-crystallin 314 33776 5.06 0 Cytoplasm;Cytosol Deafness, autosomal dominant, 40 Specifically catalyzes the reduction of imine bonds in brain substrates that may include cystathionine ketimine (CysK) and lanthionine ketimine (LK). Binds thyroid hormone which is a strong reversible inhibitor. Presumably involved in the regulation of the free intracellular concentration of triiodothyronine and access to its nuclear receptors. NA Belongs to the ornithine cyclodeaminase/mu-crystallin family. Lysine catabolism PE1 16 +NX_Q14896 Myosin-binding protein C, cardiac-type 1274 140762 6.24 0 NA Left ventricular non-compaction 10;Cardiomyopathy, dilated 1MM;Cardiomyopathy, familial hypertrophic 4 Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role. Substrate for phosphorylation by PKA and PKC. Reversible phosphorylation appears to modulate contraction (By similarity).;Polyubiquitinated.;MYBPC3 is phosphorylated by PRKCZ (Phosphoserine,Phosphothreonine:PTM-0253,PTM-0254);MYBPC3 is phosphorylated by PRKCE (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the immunoglobulin superfamily. MyBP family. Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;Striated Muscle Contraction PE1 11 +NX_Q14914 Prostaglandin reductase 1 329 35870 8.45 0 Cytoplasm NA Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-oxo-PGE1, 15-oxo-PGE2 and 15-oxo-PGE2-alpha. Has no activity towards PGE1, PGE2 and PGE2-alpha (By similarity). Catalyzes the conversion of leukotriene B4 into its biologically less active metabolite, 12-oxo-leukotriene B4. This is an initial and key step of metabolic inactivation of leukotriene B4. NA Belongs to the NADP-dependent oxidoreductase L4BD family. Synthesis of Leukotrienes (LT) and Eoxins (EX);Synthesis of Lipoxins (LX) PE1 9 +NX_Q14916 Sodium-dependent phosphate transport protein 1 467 51132 8.89 10 Golgi apparatus;Apical cell membrane NA Important for the resorption of phosphate by the kidney. May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Plays a role in urate transport in the kidney (PubMed:27906618). NA Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. Organic anion transporters PE1 6 +NX_Q14919 Dr1-associated corepressor 205 22350 5.04 0 Cytosol;Nucleus NA The association of the DR1/DRAP1 heterodimer with TBP results in a functional repression of both activated and basal transcription of class II genes. This interaction precludes the formation of a transcription-competent complex by inhibiting the association of TFIIA and/or TFIIB with TBP. Can bind to DNA on its own. Phosphorylation reduces DNA binding, but has no effect on heterodimerization and TBP binding. Belongs to the NC2 alpha/DRAP1 family. Signaling by NODAL;Signaling by Activin PE1 11 +NX_Q14929 Zinc finger protein 169 603 68488 9.36 0 Cytosol;Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 9 +NX_Q14934 Nuclear factor of activated T-cells, cytoplasmic 4 902 95449 5.29 0 Cytosol;Nucleus speckle;Nucleus NA Ca(2+)-regulated transcription factor that is involved in several processes, including the development and function of the immune, cardiovascular, musculoskeletal, and nervous systems (PubMed:7749981, PubMed:11514544, PubMed:11997522, PubMed:17875713, PubMed:17213202, PubMed:18668201, PubMed:25663301). Involved in T-cell activation, stimulating the transcription of cytokine genes, including that of IL2 and IL4 (PubMed:7749981, PubMed:18668201, PubMed:18347059). Along with NFATC3, involved in embryonic heart development. Involved in mitochondrial energy metabolism required for cardiac morphogenesis and function (By similarity). Transactivates many genes involved in the cardiovascular system, including AGTR2, NPPB/BNP (in synergy with GATA4), NPPA/ANP/ANF and MYH7/beta-MHC (By similarity). Involved in the regulation of adult hippocampal neurogenesis. Involved in BDNF-driven pro-survival signaling in hippocampal adult-born neurons. Involved in the formation of long-term spatial memory and long-term potentiation (By similarity). In cochlear nucleus neurons, may play a role in deafferentation-induced apoptosis during the developmental critical period, when auditory neurons depend on afferent input for survival (By similarity). Binds to and activates the BACE1/Beta-secretase 1 promoter, hence may regulate the proteolytic processing of the amyloid precursor protein (APP) (PubMed:25663301). Plays a role in adipocyte differentiation (PubMed:11997522). May be involved in myoblast differentiation into myotubes (PubMed:17213202). Binds the consensus DNA sequence 5'-GGAAAAT-3' (Probable). In the presence of CREBBP, activates TNF transcription (PubMed:11514544). Binds to PPARG gene promoter and regulates its activity (PubMed:11997522). Binds to PPARG and REG3G gene promoters (By similarity). Ubiquitinated, leading to degradation by the proteasome. Ubiquitination may be stimulated by GSK3B-dependent phosphorylation. Polyubiquitin linkage mainly occurs through 'Lys-48'.;Phosphorylated by NFATC-kinases; dephosphorylated by calcineurin/PPP3CA. Phosphorylated on Ser-168 and Ser-170 by MTOR, IRAK1, MAPK7/ERK5 and MAPK14/p38, on Ser-213 and Ser-217 by MAPK8/JNK1 and MAPK9/JNK2, and on Ser-289 and Ser-344 by RPS6KA3 (PubMed:11997522, PubMed:17875713, PubMed:17213202, PubMed:18347059). Phosphorylated by GSK3B (PubMed:18347059). Phosphorylation by GSK3B markedly increases NFATC4 ubiquitination (By similarity). Phosphorylation at Ser-168 and Ser-170 is stimulated by UV irradiation (PubMed:18347059). Phosphorylation determines subcellular location: the hyperphosphorylated protein is cytosolic, while the dephosphorylated form is targeted to the nucleus.;NFATC4 is phosphorylated by RPS6KA3 (Phosphoserine:PTM-0253);NFATC4 is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA MAPK signaling pathway;Wnt signaling pathway;Axon guidance;VEGF signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;HTLV-I infection PE1 14 +NX_Q14938 Nuclear factor 1 X-type 502 55098 8.9 0 Nucleus Marshall-Smith syndrome;Sotos syndrome 2 Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication. NA Belongs to the CTF/NF-I family. RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation PE1 19 +NX_Q14940 Sodium/hydrogen exchanger 5 896 99011 7.33 12 Membrane;Nucleoplasm;Cytosol NA Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction (By similarity). Phosphorylated (Possible). Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. Sodium/Proton exchangers PE1 16 +NX_Q14943 Killer cell immunoglobulin-like receptor 3DS1 382 42475 9.59 1 Cell membrane NA Receptor on natural killer (NK) cells for MHC class I molecules. Upon interaction with peptide-free HLA-F open conformer, triggers NK cell degranulation and anti-viral cytokine production. NA Belongs to the immunoglobulin superfamily. DAP12 interactions PE1 19 +NX_Q14952 Killer cell immunoglobulin-like receptor 2DS3 304 33717 6.1 1 Cell membrane NA Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells. NA Belongs to the immunoglobulin superfamily. Antigen processing and presentation;Natural killer cell mediated cytotoxicity PE2 19 +NX_Q14953 Killer cell immunoglobulin-like receptor 2DS5 304 33698 6.26 1 Cell membrane NA Activating natural killer (NK) receptor that recognizes C2 epitopes of HLA-C alleles. Bridging the innate and adaptive immune systems, NK cells express a number of cell surface receptors which either inhibit or stimulate their cytotoxicity (PubMed:28685972, PubMed:18624290, PubMed:18682925). Able to activate NK cells citotoxicity and cytokine production such as IFNG (PubMed:18624290, PubMed:24269691). Receptor functions are attenuated even lost in some alleles, such as KIR2DS5*002 reprensented in this entry (PubMed:28685972). N-glycosylated, glycosylation varies depending on the allele which alters cell surface expression levels. Belongs to the immunoglobulin superfamily. DAP12 interactions PE1 19 +NX_Q14954 Killer cell immunoglobulin-like receptor 2DS1 304 33618 6.09 1 Cell membrane NA Receptor on natural killer (NK) cells for some HLA-C alleles such as w6. Does not inhibit the activity of NK cells. NA Belongs to the immunoglobulin superfamily. Antigen processing and presentation;Natural killer cell mediated cytotoxicity;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;DAP12 interactions PE1 19 +NX_Q14956 Transmembrane glycoprotein NMB 572 63923 6.17 1 Early endosome membrane;Melanosome membrane;Cell membrane Amyloidosis, primary localized cutaneous, 3 Could be a melanogenic enzyme. NA Belongs to the PMEL/NMB family. PTK6 promotes HIF1A stabilization PE1 7 +NX_Q14957 Glutamate receptor ionotropic, NMDA 2C 1233 134209 8.82 3 Postsynaptic cell membrane;Cell membrane NA Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:26875626). Sensitivity to glutamate and channel kinetics depend on the subunit composition (Probable). Plays a role in regulating the balance between excitatory and inhibitory activity of pyramidal neurons in the prefrontal cortex. Contributes to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning (By similarity). NA Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2C/GRIN2C subfamily. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Long-term potentiation;Glutamatergic synapse;Alzheimer's disease;Amyotrophic lateral sclerosis (ALS);Unblocking of NMDA receptors, glutamate binding and activation;Synaptic adhesion-like molecules;Neurexins and neuroligins;Assembly and cell surface presentation of NMDA receptors;Negative regulation of NMDA receptor-mediated neuronal transmission;Long-term potentiation PE1 17 +NX_Q14964 Ras-related protein Rab-39A 217 25007 7.57 0 Phagosome membrane;Lysosome;Phagosome;Cell membrane NA Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in vesicular trafficking. Plays a role in the fusion of phagosomes with lysosomes. Negatively regulates LPS-induced autophagosome formation in macrophages possibly by implicating PI3K (PubMed:24349490). May be involved in multiple neurite formation (By similarity). NA Belongs to the small GTPase superfamily. Rab family. Intra-Golgi traffic;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 11 +NX_Q14966 Zinc finger protein 638 1978 220625 6.02 0 Nucleoplasm;Nucleus speckle;Cytoplasmic vesicle NA Transcription factor that binds to cytidine clusters in double-stranded DNA (PubMed:8647861, PubMed:30487602). Plays a key role in the silencing of unintegrated retroviral DNA: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed (PubMed:30487602). Mediates transcriptional repression of unintegrated viral DNA by specifically binding to the cytidine clusters of retroviral DNA and mediating the recruitment of chromatin silencers, such as the HUSH complex, SETDB1 and the histone deacetylases HDAC1 and HDAC4 (PubMed:30487602). Acts as an early regulator of adipogenesis by acting as a transcription cofactor of CEBPs (CEBPA, CEBPD and/or CEBPG), controlling the expression of PPARG and probably of other proadipogenic genes, such as SREBF1 (By similarity). May also regulate alternative splicing of target genes during adipogenesis (By similarity). NA NA Transcriptional regulation of white adipocyte differentiation PE1 2 +NX_Q14973 Sodium/bile acid cotransporter 349 38119 9.07 8 Membrane NA (Microbial infection) Acts as a receptor for hepatitis B virus.;The hepatic sodium/bile acid uptake system exhibits broad substrate specificity and transports various non-bile acid organic compounds as well. It is strictly dependent on the extracellular presence of sodium. NA Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. Bile secretion;Recycling of bile acids and salts PE1 14 +NX_Q14974 Importin subunit beta-1 876 97170 4.68 0 Cytoplasm;Nucleus membrane;Nucleoplasm;Nucleus envelope;Cytosol NA Functions in nuclear protein import, either in association with an adapter protein, like an importin-alpha subunit, which binds to nuclear localization signals (NLS) in cargo substrates, or by acting as autonomous nuclear transport receptor. Acting autonomously, serves itself as NLS receptor. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates autonomously the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In association with IPO7 mediates the nuclear import of H1 histone. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev. Imports SNAI1 and PRKCI into the nucleus. Mono-ADP-ribosylated by PARP16. Belongs to the importin beta family. Importin beta-1 subfamily. RNA transport;ISG15 antiviral mechanism;Nuclear import of Rev protein;Transport of Ribonucleoproteins into the Host Nucleus;Regulation of cholesterol biosynthesis by SREBP (SREBF);NS1 Mediated Effects on Host Pathways;Neutrophil degranulation;Apoptosis induced DNA fragmentation PE1 17 +NX_Q14978 Nucleolar and coiled-body phosphoprotein 1 699 73603 9.46 0 Cytoplasm;Nucleolus NA Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:10567578, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with TCOF1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). Involved in nucleologenesis, possibly by playing a role in the maintenance of the fundamental structure of the fibrillar center and dense fibrillar component in the nucleolus (PubMed:9016786). It has intrinsic GTPase and ATPase activities (PubMed:9016786). Ubiquitinated. Monoubiquitination by the BCR(KBTBD8) complex promotes the formation of a NOLC1-TCOF1 complex that acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832).;Undergoes rapid and massive phosphorylation/dephosphorylation cycles on CK2 and PKC sites. NOLC1 is one of the mostly phosphorylated proteins in the cell. Belongs to the NOLC1 family. NA PE1 10 +NX_Q14980 Nuclear mitotic apparatus protein 1 2115 238260 5.63 0 Cell cortex;Lateral cell membrane;Cell membrane;Nucleus matrix;Chromosome;Nucleoplasm;Spindle pole;Centrosome;Cytosol;Nucleus;Cytoskeleton NA Microtubule (MT)-binding protein that plays a role in the formation and maintenance of the spindle poles and the alignement and the segregation of chromosomes during mitotic cell division (PubMed:7769006, PubMed:17172455, PubMed:19255246, PubMed:24996901, PubMed:26195665, PubMed:27462074). Functions to tether the minus ends of MTs at the spindle poles, which is critical for the establishment and maintenance of the spindle poles (PubMed:12445386, PubMed:11956313). Plays a role in the establishment of the mitotic spindle orientation during metaphase and elongation during anaphase in a dynein-dynactin-dependent manner (PubMed:23870127, PubMed:24109598, PubMed:24996901, PubMed:26765568). In metaphase, part of a ternary complex composed of GPSM2 and G(i) alpha proteins, that regulates the recruitment and anchorage of the dynein-dynactin complex in the mitotic cell cortex regions situated above the two spindle poles, and hence regulates the correct oritentation of the mitotic spindle (PubMed:23027904, PubMed:22327364, PubMed:23921553). During anaphase, mediates the recruitment and accumulation of the dynein-dynactin complex at the cell membrane of the polar cortical region through direct association with phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), and hence participates in the regulation of the spindle elongation and chromosome segregation (PubMed:22327364, PubMed:23921553, PubMed:24996901, PubMed:24371089). Binds also to other polyanionic phosphoinositides, such as phosphatidylinositol 3-phosphate (PIP), lysophosphatidic acid (LPA) and phosphatidylinositol triphosphate (PIP3), in vitro (PubMed:24996901, PubMed:24371089). Also required for proper orientation of the mitotic spindle during asymmetric cell divisions (PubMed:21816348). Plays a role in mitotic MT aster assembly (PubMed:11163243, PubMed:11229403, PubMed:12445386). Involved in anastral spindle assembly (PubMed:25657325). Positively regulates TNKS protein localization to spindle poles in mitosis (PubMed:16076287). Highly abundant component of the nuclear matrix where it may serve a non-mitotic structural role, occupies the majority of the nuclear volume (PubMed:10075938). Required for epidermal differentiation and hair follicle morphogenesis (By similarity). O-glycosylated during cytokinesis at sites identical or close to phosphorylation sites, this interferes with the phosphorylation status (PubMed:20068230).;Phosphorylation and dephosphorylation on Thr-2055 regulates the extent of cortical NUMA1 and the dynein-dynactin complex localization during mitotic metaphase and anaphase (PubMed:23921553). In metaphase, phosphorylation on Thr-2055 occurs in a kinase CDK1-dependent manner; this phosphorylation maintains low levels of cortical dynein-dynactin complex at metaphase, and hence proper spindle positioning (PubMed:7769006, PubMed:23921553, PubMed:24371089). In anaphase, dephosphorylated on Thr-2055 by phosphatase PPP2CA; this dephosphorylation stimulates its membrane association and with the dynein-dynactin complex its enrichment at the cell cortex, and hence robust spindle elongation (PubMed:23921553, PubMed:24371089). Probably also phosphorylated on Thr-2015 and Ser-2087 by CDK1; these phosphorylations may regulate its cell cortex recruitment during metaphase and anaphase (PubMed:23870127). Phosphorylated on Thr-1047, Ser-1769, Ser-1772, Ser-1789 and Ser-1834 by PLK1; these phosphorylations induce cortical dynein-dynactin complex dissociation from the NUMA1-GPSM2 complex and negatively regulates cortical dynein-dynactin complex localization (PubMed:22327364).;ADP-ribosylated by TNKS at the onset of mitosis; ADP-ribosylation is not required for its localization to spindle poles (PubMed:16076287).;Ubiquitinated with 'Lys-63'-linked polyubiquitin chains. Deubiquitination by the BRISC complex is important for the incorporation of NUMA1 into mitotic spindle poles and normal spindle pole function, probably by modulating interactions between NUMA1, dynein-dynactin complex and importin-beta.;NUMA1 is phosphorylated by MAPK3 NA Recruitment of NuMA to mitotic centrosomes;Mitotic Prophase PE1 11 +NX_Q14982 Opioid-binding protein/cell adhesion molecule 345 38008 6.45 0 Cell membrane Ovarian cancer Binds opioids in the presence of acidic lipids; probably involved in cell contact. NA Belongs to the immunoglobulin superfamily. IgLON family. Post-translational modification: synthesis of GPI-anchored proteins PE1 11 +NX_Q14990 Outer dense fiber protein 1 250 28366 8.46 0 NA NA Component of the outer dense fibers (ODF) of spermatozoa. ODF are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail and may help to maintain the passive elastic structures and elastic recoil of the sperm tail. NA NA NA PE1 8 +NX_Q14993 Collagen alpha-1(XIX) chain 1142 115221 8.57 0 Extracellular matrix NA May act as a cross-bridge between fibrils and other extracellular matrix molecules. Involved in skeletal myogenesis in the developing esophagus. May play a role in organization of the pericellular matrix or the sphinteric smooth muscle. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. Collagen degradation;Collagen biosynthesis and modifying enzymes;Collagen chain trimerization PE1 6 +NX_Q14994 Nuclear receptor subfamily 1 group I member 3 352 39942 8.55 0 Cytoplasm;Nucleoplasm;Nucleus;Cytoskeleton NA Binds and transactivates the retinoic acid response elements that control expression of the retinoic acid receptor beta 2 and alcohol dehydrogenase 3 genes. Transactivates both the phenobarbital responsive element module of the human CYP2B6 gene and the CYP3A4 xenobiotic response element. Phosphorylated at Thr-38 by PKC, dephosphorylation of Thr-38 is required for nuclear translocation and activation. Belongs to the nuclear hormone receptor family. NR1 subfamily. Nuclear Receptor transcription pathway PE1 1 +NX_Q14995 Nuclear receptor subfamily 1 group D member 2 579 64625 8.04 0 Cytoplasm;Nucleoplasm;Nucleus NA Transcriptional repressor which coordinates circadian rhythm and metabolic pathways in a heme-dependent manner. Integral component of the complex transcription machinery that governs circadian rhythmicity and forms a critical negative limb of the circadian clock by directly repressing the expression of core clock components ARNTL/BMAL1 and CLOCK. Also regulates genes involved in metabolic functions, including lipid metabolism and the inflammatory response. Acts as a receptor for heme which stimulates its interaction with the NCOR1/HDAC3 corepressor complex, enhancing transcriptional repression. Recognizes two classes of DNA response elements within the promoter of its target genes and can bind to DNA as either monomers or homodimers, depending on the nature of the response element. Binds as a monomer to a response element composed of the consensus half-site motif 5'-[A/G]GGTCA-3' preceded by an A/T-rich 5' sequence (RevRE), or as a homodimer to a direct repeat of the core motif spaced by two nuclegotides (RevDR-2). Acts as a potent competitive repressor of ROR alpha (RORA) function and also negatively regulates the expression of NR1D1. Regulates lipid and energy homeostasis in the skeletal muscle via repression of genes involved in lipid metabolism and myogenesis including: CD36, FABP3, FABP4, UCP3, SCD1 and MSTN. Regulates hepatic lipid metabolism via the repression of APOC3. Represses gene expression at a distance in macrophages by inhibiting the transcription of enhancer-derived RNAs (eRNAs). In addition to its activity as a repressor, can also act as a transcriptional activator. Acts as a transcriptional activator of the sterol regulatory element-binding protein 1 (SREBF1) and the inflammatory mediator interleukin-6 (IL6) in the skeletal muscle (By similarity). Plays a role in the regulation of circadian sleep/wake cycle; essential for maintaining wakefulness during the dark phase or active period (By similarity). Key regulator of skeletal muscle mitochondrial function; negatively regulates the skeletal muscle expression of core clock genes and genes involved in mitochondrial biogenesis, fatty acid beta-oxidation and lipid metabolism (By similarity). May play a role in the circadian control of neutrophilic inflammation in the lung (By similarity). Ubiquitinated by SIAH2; leading to proteasomal degradation.;Deacetylated by HDAC1. Acetylation and deacetylation regulate its transcriptional regulatory activity.;Phosphorylated by CSNK1E; phosphorylation enhances its cytoplasmic localization.;Under more reducing intracellular redox conditions, Cys-384 is in its heme-bound state, which is optimal for recruitment of the NCOR1/HDAC3 corepressor complex and repression of target genes. When subjected to oxidative stress conditions, Cys-384 undergoes oxidation to form a disulfide bridge with Cys-374, also triggering a ligand switch that results in release of bound heme and derepression of target genes. Belongs to the nuclear hormone receptor family. NR1 subfamily. Nuclear Receptor transcription pathway PE1 3 +NX_Q14997 Proteasome activator complex subunit 4 1843 211334 6.45 0 Nucleoplasm;Cytosol;Nucleus speckle;Nucleus NA Associated component of the proteasome that specifically recognizes acetylated histones and promotes ATP- and ubiquitin-independent degradation of core histones during spermatogenesis and DNA damage response. Recognizes and binds acetylated histones via its bromodomain-like (BRDL) region and activates the proteasome by opening the gated channel for substrate entry. Binds to the core proteasome via its C-terminus, which occupies the same binding sites as the proteasomal ATPases, opening the closed structure of the proteasome via an active gating mechanism. Component of the spermatoproteasome, a form of the proteasome specifically found in testis: binds to acetylated histones and promotes degradation of histones, thereby participating actively to the exchange of histones during spermatogenesis. Also involved in DNA damage response in somatic cells, by promoting degradation of histones following DNA double-strand breaks. NA Belongs to the BLM10 family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 2 +NX_Q14999 Cullin-7 1698 191161 5.57 0 Golgi apparatus;Cytoplasm;Perinuclear region;Centrosome 3M syndrome 1 Core component of the 3M and Cul7-RING(FBXW8) complexes, which mediates the ubiquitination of target proteins. Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695). Interaction with CUL9 is required to inhibit CUL9 activity and ubiquitination of BIRC5 (PubMed:24793696). Core component of a Cul7-RING ubiquitin-protein ligase with FBXW8, which mediates ubiquitination and consequent degradation of target proteins such as GORASP1, IRS1 and MAP4K1/HPK1 (PubMed:21572988, PubMed:24362026). Ubiquitination of GORASP1 regulates Golgi morphogenesis and dendrite patterning in brain (PubMed:21572988). Mediates ubiquitination and degradation of IRS1 in a mTOR-dependent manner: the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previously phosphorylated by S6 kinase (RPS6KB1 or RPS6KB2) (PubMed:18498745). The Cul7-RING(FBXW8) complex also mediates ubiquitination of MAP4K1/HPK1: recognizes and binds autophosphorylated MAP4K1/HPK1, leading to its degradation, thereby affecting cell proliferation and differentiation (PubMed:24362026). Acts as a regulator in trophoblast cell epithelial-mesenchymal transition and placental development (PubMed:20139075). Does not promote polyubiquitination and proteasomal degradation of p53/TP53 (PubMed:16547496, PubMed:17332328). While the Cul7-RING(FBXW8) and the 3M complexes are associated and involved in common processes, CUL7 and the Cul7-RING(FBXW8) complex may be have additional functions. According to a report, may not be neddylated despite the conserved consensus site for neddylation at Lys-1576. Belongs to the cullin family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;XBP1(S) activates chaperone genes;Neddylation PE1 6 +NX_Q149M9 NACHT domain- and WD repeat-containing protein 1 1564 174552 6.28 0 Cytosol NA May play a role in the control of androgen receptor (AR) protein steady-state levels. NA NA NA PE1 19 +NX_Q149N8 E3 ubiquitin-protein ligase SHPRH 1683 193079 7.3 0 Mitochondrion NA E3 ubiquitin-protein ligase involved in DNA repair. Upon genotoxic stress, accepts ubiquitin from the UBE2N-UBE2V2 E2 complex and transfers it to 'Lys-164' of PCNA which had been monoubiquitinated by UBE2A/B-RAD18, promoting the formation of non-canonical poly-ubiquitin chains linked through 'Lys-63'. NA Belongs to the SNF2/RAD54 helicase family. Protein modification; protein ubiquitination.;E3 ubiquitin ligases ubiquitinate target proteins PE1 6 +NX_Q14BN4 Sarcolemmal membrane-associated protein 828 95198 5.35 1 Endoplasmic reticulum;Sarcolemma;Centrosome NA May play a role during myoblast fusion. NA Belongs to the SLMAP family. NA PE1 3 +NX_Q14C86 GTPase-activating protein and VPS9 domain-containing protein 1 1478 164980 5.09 0 Membrane;Cytosol;Endosome;Cell membrane NA Acts both as a GTPase-activating protein (GAP) and a guanine nucleotide exchange factor (GEF), and participates in various processes such as endocytosis, insulin receptor internalization or LC2A4/GLUT4 trafficking. Acts as a GEF for the Ras-related protein RAB31 by exchanging bound GDP for free GTP, leading to regulate LC2A4/GLUT4 trafficking. In the absence of insulin, it maintains RAB31 in an active state and promotes a futile cycle between LC2A4/GLUT4 storage vesicles and early endosomes, retaining LC2A4/GLUT4 inside the cells. Upon insulin stimulation, it is translocated to the plasma membrane, releasing LC2A4/GLUT4 from intracellular storage vesicles. Also involved in EGFR trafficking and degradation, possibly by promoting EGFR ubiquitination and subsequent degradation by the proteasome. Has GEF activity for Rab5 and GAP activity for Ras. NA Belongs to the GAPVD1 family. Clathrin-mediated endocytosis;RAB GEFs exchange GTP for GDP on RABs PE1 9 +NX_Q14C87 Transmembrane protein 132D 1099 122309 5.5 1 Membrane NA May serve as a cell-surface marker for oligodendrocyte differentiation. NA Belongs to the TMEM132 family. NA PE1 12 +NX_Q14CB8 Rho GTPase-activating protein 19 494 55756 9.41 0 Nucleus;Cell membrane NA GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. NA NA Rho GTPase cycle PE1 10 +NX_Q14CM0 FERM and PDZ domain-containing protein 4 1322 144379 5.12 0 Dendritic spine Mental retardation, X-linked 104 Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate. NA NA NA PE1 X +NX_Q14CN2 Calcium-activated chloride channel regulator 4 919 101283 5.27 1 Cell membrane;Apical cell membrane;Secreted;Nucleoplasm;Cytosol NA May be involved in mediating calcium-activated chloride conductance. The translation product is autoproteolytically cleaved by the metalloprotease domain in the endoplasmic reticulum into a N-terminal and a C-terminal products that remain physically associated with each other. The cleavage is necessary for calcium-activated chloride channel (CaCC) activation activity. Belongs to the CLCR family. Olfactory transduction;Pancreatic secretion;Stimuli-sensing channels PE1 1 +NX_Q14CN4 Keratin, type II cytoskeletal 72 511 55877 6.53 0 NA NA Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable). NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_Q14CS0 UBX domain-containing protein 2B 331 37077 5.49 0 Golgi apparatus;Endoplasmic reticulum;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Adapter protein required for Golgi and endoplasmic reticulum biogenesis (PubMed:17141156). Involved in Golgi and endoplasmic reticulum maintenance during interphase and in their reassembly at the end of mitosis (PubMed:17141156). The complex formed with VCP has membrane fusion activity; membrane fusion activity requires USO1-GOLGA2 tethering and BET1L (PubMed:17141156). VCPIP1 is also required, but not its deubiquitinating activity (PubMed:17141156). Together with NSFL1C/p47, regulates the centrosomal levels of kinase AURKA/Aurora A during mitotic progression by promoting AURKA removal from centrosomes in prophase (PubMed:23649807). Also, regulates spindle orientation during mitosis (PubMed:23649807). NA Belongs to the NSFL1C family. NA PE1 8 +NX_Q14CW9 Ataxin-7-like protein 3 347 38651 6.62 0 Nucleus speckle;Nucleus;Cell membrane NA Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B (PubMed:18206972, PubMed:21746879). The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. Within the complex, it is required to recruit USP22 and ENY2 into the SAGA complex (PubMed:18206972). Regulates H2B monoubiquitination (H2Bub1) levels. Affects subcellular distribution of ENY2, USP22 and ATXN7L3B (PubMed:27601583). NA Belongs to the SGF11 family. HATs acetylate histones PE1 17 +NX_Q14CX5 Transmembrane protein 180 517 57381 8.21 11 Membrane;Golgi apparatus;Cytosol NA NA NA NA NA PE2 10 +NX_Q14CX7 N-alpha-acetyltransferase 25, NatB auxiliary subunit 972 112292 6.21 0 Golgi apparatus;Cytoplasm;Cytosol NA Non-catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp-Glu. May play a role in normal cell-cycle progression. NA Belongs to the MDM20/NAA25 family. NA PE1 12 +NX_Q14CZ0 UPF0472 protein C16orf72 275 30926 7.77 0 Cytoplasmic vesicle;Nucleoplasm NA NA NA Belongs to the UPF0472 family. NA PE1 16 +NX_Q14CZ7 FAST kinase domain-containing protein 3, mitochondrial 662 75689 8.62 0 Nucleoplasm;Mitochondrion NA Required for normal mitochondrial respiration (PubMed:20869947). Increases steady-state levels and half-lives of a subset of mature mitochondrial mRNAs MT-ND2, MT-ND3, MT-CYTB, MT-CO2, and MT-ATP8/6. Promotes MT-CO1 mRNA translation and increases mitochondrial complex IV assembly and activity (PubMed:27789713). NA Belongs to the FAST kinase family. NA PE1 5 +NX_Q14CZ8 Hepatocyte cell adhesion molecule 416 46026 9.2 1 Membrane;Cytoplasmic vesicle;Cytoplasm Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B;Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation. N-glycosylated. NA NA PE1 11 +NX_Q14D04 Ventricular zone-expressed PH domain-containing protein homolog 1 833 94745 6.26 0 Nucleoplasm;Cytosol;Nucleolus;Cell membrane NA Interacts with TGF-beta receptor type-1 (TGFBR1) and inhibits dissociation of activated SMAD2 from TGFBR1, impeding its nuclear accumulation and resulting in impaired TGF-beta signaling. May also affect FOXO, Hippo and Wnt signaling. NA Belongs to the MELT/VEPH family. NA PE1 3 +NX_Q14D33 Receptor-transporting protein 5 572 60488 6.12 1 Membrane NA NA NA NA Olfactory Signaling Pathway PE1 2 +NX_Q14DG7 Transmembrane protein 132B 1078 119477 4.63 1 Membrane NA NA NA Belongs to the TMEM132 family. NA PE1 12 +NX_Q15003 Condensin complex subunit 2 741 82563 4.92 0 Cytoplasm;Chromosome;Nucleoplasm;Cytosol;Nucleus Microcephaly 23, primary, autosomal recessive Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases (PubMed:11136719). Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (PubMed:27737959). Phosphorylated by CDK1. Its phosphorylation, as well as that of NCAPD2 and NCAPG subunits, activates the condensin complex and is required for chromosome condensation (By similarity). Belongs to the CND2 (condensin subunit 2) family. Condensation of Prometaphase Chromosomes PE1 2 +NX_Q15004 PCNA-associated factor 111 11986 9.85 0 Perinuclear region;Centrosome;Nucleus NA PCNA-binding protein that acts as a regulator of DNA repair during DNA replication. Following DNA damage, the interaction with PCNA is disrupted, facilitating the interaction between monoubiquitinated PCNA and the translesion DNA synthesis DNA polymerase eta (POLH) at stalled replisomes, facilitating the bypass of replication-fork-blocking lesions. Also acts as a regulator of centrosome number. Monoubiquitinated at Lys-15 and Lys-24 during normal S phase, promoting its association with PCNA. Also diubiquitinated at these 2 sites. Following DNA damage, monoubiquitin chains at Lys-15 and Lys-24 are probably extended, leading to disrupt the interaction with PCNA. Polyubiquitinated by the APC/C complex at the mitotic exit, leading to its degradation by the proteasome. NA Termination of translesion DNA synthesis PE1 15 +NX_Q15005 Signal peptidase complex subunit 2 226 25003 8.69 2 Microsome membrane;Cytoplasm;Endoplasmic reticulum membrane;Cell membrane;Nucleoplasm NA Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum. NA Belongs to the SPCS2 family. Protein export;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP);SRP-dependent cotranslational protein targeting to membrane;Synthesis, secretion, and deacylation of Ghrelin PE1 11 +NX_Q15006 ER membrane protein complex subunit 2 297 34834 6.15 0 Cytoplasm;Nucleus NA NA NA Belongs to the EMC2 family. NA PE1 8 +NX_Q15007 Pre-mRNA-splicing regulator WTAP 396 44244 5.12 0 Nucleoplasm;Cytoplasm;Nucleus speckle NA Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:29507755). Required for accumulation of METTL3 and METTL14 to nuclear speckle (PubMed:24316715, PubMed:24407421, PubMed:24981863). Acts as a mRNA splicing regulator (PubMed:12444081). Regulates G2/M cell-cycle transition by binding to the 3' UTR of CCNA2, which enhances its stability (PubMed:17088532). Impairs WT1 DNA-binding ability and inhibits expression of WT1 target genes (PubMed:17095724). NA Belongs to the fl(2)d family. Processing of Capped Intron-Containing Pre-mRNA PE1 6 +NX_Q15008 26S proteasome non-ATPase regulatory subunit 6 389 45531 5.45 0 Golgi apparatus;Cytoplasmic vesicle;Cytoplasm;Nucleus NA Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. NA Belongs to the proteasome subunit S10 family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neutrophil degranulation;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 3 +NX_Q15011 Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein 391 43720 5.11 2 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Could enhance presenilin-mediated amyloid-beta protein 40 generation. Binds to ubiquilins and this interaction is required for efficient degradation of CD3D via the ERAD pathway (PubMed:18307982). NA NA Protein processing in endoplasmic reticulum;ATF4 activates genes in response to endoplasmic reticulum stress PE1 16 +NX_Q15012 Lysosomal-associated transmembrane protein 4A 233 26801 6.1 4 Golgi apparatus;Endomembrane system;Cell membrane;Cytoplasmic vesicle NA May function in the transport of nucleosides and/or nucleoside derivatives between the cytosol and the lumen of an intracellular membrane-bound compartment. NA Belongs to the LAPTM4/LAPTM5 transporter family. Lysosome PE1 2 +NX_Q15013 MAD2L1-binding protein 274 31052 5.94 0 Nucleus membrane;Nucleolus;Nucleoplasm;Spindle;Nucleus NA May function to silence the spindle checkpoint and allow mitosis to proceed through anaphase by binding MAD2L1 after it has become dissociated from the MAD2L1-CDC20 complex. NA Belongs to the MAD2L1BP family. NA PE1 6 +NX_Q15014 Mortality factor 4-like protein 2 288 32308 9.72 0 Nucleoplasm;Nucleus NA Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when directly recruited to sites of DNA damage. Also component of the MSIN3A complex which acts to repress transcription by deacetylation of nucleosomal histones. NA NA HATs acetylate histones PE1 X +NX_Q15018 BRISC complex subunit Abraxas 2 415 46901 5.83 0 Cytoplasm;Spindle pole;Cytosol;Nucleus;Cytoskeleton NA Component of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked polyubiquitin, leaving the last ubiquitin chain attached to its substrates (PubMed:19214193, PubMed:20032457, PubMed:20656690, PubMed:24075985). May act as a central scaffold protein that assembles the various components of the BRISC complex and retains them in the cytoplasm (PubMed:20656690). Plays a role in regulating the onset of apoptosis via its role in modulating 'Lys-63'-linked ubiquitination of target proteins (By similarity). Required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activities by enhancing its stability and cell surface expression (PubMed:24075985, PubMed:26344097). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985). Required for normal induction of p53/TP53 in response to DNA damage (PubMed:25283148). Independent of the BRISC complex, promotes interaction between USP7 and p53/TP53, and thereby promotes deubiquitination of p53/TP53, preventing its degradation and resulting in increased p53/TP53-mediated transcription regulation and p53/TP53-dependent apoptosis in response to DNA damage (PubMed:25283148). NA Belongs to the FAM175 family. Abro1 subfamily. Metalloprotease DUBs PE1 10 +NX_Q15019 Septin-2 361 41487 6.15 0 Kinetochore;Cytoplasm;Cell cortex;Cleavage furrow;Cell membrane;Nucleoplasm;Flagellum;Cilium membrane;Spindle;Midbody;Cytoskeleton NA Filament-forming cytoskeletal GTPase. Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). Required for normal organization of the actin cytoskeleton. Plays a role in the biogenesis of polarized columnar-shaped epithelium by maintaining polyglutamylated microtubules, thus facilitating efficient vesicle transport, and by impeding MAP4 binding to tubulin. Required for the progression through mitosis. Forms a scaffold at the midplane of the mitotic splindle required to maintain CENPE localization at kinetochores and consequently chromosome congression. During anaphase, may be required for chromosome segregation and spindle elongation. Plays a role in ciliogenesis and collective cell movements. In cilia, required for the integrity of the diffusion barrier at the base of the primary cilium that prevents diffusion of transmembrane proteins between the cilia and plasma membranes: probably acts by regulating the assembly of the tectonic-like complex (also named B9 complex) by localizing TMEM231 protein. May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri. NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. Anchoring of the basal body to the plasma membrane PE1 2 +NX_Q15020 Squamous cell carcinoma antigen recognized by T-cells 3 963 109935 5.45 0 Cajal body;Nucleoplasm;Cytoplasm;Nucleus speckle NA Regulates Tat transactivation activity through direct interaction. May be a cellular factor for HIV-1 gene expression and viral replication.;U6 snRNP-binding protein that functions as a recycling factor of the splicing machinery. Promotes the initial reassembly of U4 and U6 snRNPs following their ejection from the spliceosome during its maturation (PubMed:12032085). Also binds U6atac snRNPs and may function as a recycling factor for U4atac/U6atac spliceosomal snRNP, an initial step in the assembly of U12-type spliceosomal complex. The U12-type spliceosomal complex plays a role in the splicing of introns with non-canonical splice sites (PubMed:14749385). May also function as a substrate-targeting factor for deubiquitinases like USP4 and USP15. Recruits USP4 to ubiquitinated PRPF3 within the U4/U5/U6 tri-snRNP complex, promoting PRPF3 deubiquitination and thereby regulating the spliceosome U4/U5/U6 tri-snRNP spliceosomal complex disassembly (PubMed:20595234). May also recruit the deubiquitinase USP15 to histone H2B and mediate histone deubiquitination, thereby regulating gene expression and/or DNA repair (PubMed:24526689). May play a role in hematopoiesis probably through transcription regulation of specific genes including MYC (By similarity). NA NA NA PE1 12 +NX_Q15021 Condensin complex subunit 1 1401 157182 6.19 0 Cytoplasm;Nucleolus;Chromosome;Nucleoplasm;Cytosol;Nucleus Microcephaly 21, primary, autosomal recessive Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. May target the condensin complex to DNA via its C-terminal domain (PubMed:11136719). May promote the resolution of double-strand DNA catenanes (intertwines) between sister chromatids. Condensin-mediated compaction likely increases tension in catenated sister chromatids, providing directionality for type II topoisomerase-mediated strand exchanges toward chromatid decatenation. Required for decatenation of non-centromeric ultrafine DNA bridges during anaphase. Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (PubMed:27737959). Phosphorylated by CDK1. Its phosphorylation, as well as that of NCAPH and NCAPG subunits, activates the condensin complex and is required for chromosome condensation (By similarity). Belongs to the CND1 (condensin subunit 1) family. Condensation of Prometaphase Chromosomes PE1 12 +NX_Q15022 Polycomb protein SUZ12 739 83055 8.98 0 Nucleoplasm;Nucleolus;Nucleus NA Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A. Sumoylated, probably by PIAS2. Belongs to the VEFS (VRN2-EMF2-FIS2-SU(Z)12) family. PKMTs methylate histone lysines;Oxidative Stress Induced Senescence;PRC2 methylates histones and DNA;Activation of anterior HOX genes in hindbrain development during early embryogenesis;SUMOylation of chromatin organization proteins;Transcriptional Regulation by E2F6;Regulation of PTEN gene transcription PE1 17 +NX_Q15024 Exosome complex component RRP42 291 31821 5.08 0 Cytoplasm;Nucleus;Nucleus speckle;Nucleolus NA Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. NA Belongs to the RNase PH family. RNA degradation;ATF4 activates genes in response to endoplasmic reticulum stress;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA;KSRP (KHSRP) binds and destabilizes mRNA;mRNA decay by 3' to 5' exoribonuclease;Major pathway of rRNA processing in the nucleolus and cytosol PE1 3 +NX_Q15025 TNFAIP3-interacting protein 1 636 71864 6.23 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Inhibits NF-kappa-B activation and TNF-induced NF-kappa-B-dependent gene expression by regulating A20/TNFAIP3-mediated deubiquitination of IKBKG; proposed to link A20/TNFAIP3 to ubiquitinated IKBKG. Involved in regulation of EGF-induced ERK1/ERK2 signaling pathway; blocks MAPK3/MAPK1 nuclear translocation and MAPK1-dependent transcription. Increases cell surface CD4(T4) antigen expression. Involved in the anti-inflammatory response of macrophages and positively regulates TLR-induced activation of CEBPB. Involved in the prevention of autoimmunity; this function implicates binding to polyubiquitin. Involved in leukocyte integrin activation during inflammation; this function is mediated by association with SELPLG and dependent on phosphorylation by SRC-family kinases. Interacts with HIV-1 matrix protein and is packaged into virions and overexpression can inhibit viral replication. May regulate matrix nuclear localization, both nuclear import of PIC (Preintegration complex) and export of GAG polyprotein and viral genomic RNA during virion production. In case of infection, promotes association of IKBKG with Shigella flexneri E3 ubiquitin-protein ligase ipah9.8 p which in turn promotes polyubiquitination of IKBKG leading to its proteasome-dependent degradation and thus is perturbing NF-kappa-B activation during bacterial infection. Phosphorylation at Tyr-552 by SRC-family kinases recruits phosphoinositide-3-kinase (PI3K) PIK3CD:p85 heterodimer which results in integrin activation and leukocyte adhesion to activated endothelium during inflammation. NA Ovarian tumor domain proteases PE1 5 +NX_Q15027 Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 740 81536 7.6 0 Golgi apparatus;Cytoplasm;Recycling endosome membrane NA GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6) required for clathrin-dependent export of proteins from recycling endosomes to trans-Golgi network and cell surface. Required for regulated export of ITGB1 from recycling endosomes to the cell surface and ITGB1-dependent cell migration. Phosphorylation at Ser-554 by PKB is required for interaction with ITGB1, export of ITGB1 from recycling endosomes to the cell surface and ITGB1-dependent cell migration. NA Endocytosis PE1 17 +NX_Q15029 116 kDa U5 small nuclear ribonucleoprotein component 972 109436 4.84 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus Mandibulofacial dysostosis with microcephaly Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes (PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30705154). Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome (PubMed:16723661). NA Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily. Spliceosome;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway PE1 17 +NX_Q15031 Probable leucine--tRNA ligase, mitochondrial 903 101976 8.46 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion Hydrops, lactic acidosis, and sideroblastic anemia;Perrault syndrome 4 NA NA Belongs to the class-I aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation PE1 3 +NX_Q15032 R3H domain-containing protein 1 1099 120696 8.91 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 2 +NX_Q15034 Probable E3 ubiquitin-protein ligase HERC3 1050 117188 5.86 0 Cytoplasmic vesicle;Cytosol;Cytoplasm NA E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Ubiquitinated; which promotes degradation by the proteasome. NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation PE1 4 +NX_Q15035 Translocating chain-associated membrane protein 2 370 43328 9.32 8 Membrane;Cytosol NA Necessary for collagen type I synthesis. May couple the activity of the ER Ca(2+) pump SERCA2B with the activity of the translocon. This coupling may increase the local Ca(2+) concentration at the site of collagen synthesis, and a high Ca(2+) concentration may be necessary for the function of molecular chaperones involved in collagen folding. Required for proper insertion of the first transmembrane helix N-terminus of TM4SF20 into the ER lumen, may act as a ceramide sensor for regulated alternative translocation (RAT) (PubMed:27499293). NA Belongs to the TRAM family. NA PE1 6 +NX_Q15036 Sorting nexin-17 470 52901 7.07 0 Cytoplasmic vesicle membrane;Early endosome;Cytoplasm;Cytoplasmic vesicle NA Critical regulator of endosomal recycling of numerous surface proteins, including integrins, signaling receptor and channels (PubMed:15121882, PubMed:15769472). Binds to NPxY sequences in the cytoplasmic tails of target cargos (PubMed:21512128). Associates with retriever and CCC complexes to prevent lysosomal degradation and promote cell surface recycling of numerous cargos such as integrins ITGB1, ITGB5 and their associated alpha subunits (PubMed:28892079, PubMed:22492727). Also required for maintenance of normal cell surface levels of APP and LRP1 (PubMed:16712798, PubMed:19005208). Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) (PubMed:16712798). NA Belongs to the sorting nexin family. NA PE1 2 +NX_Q15038 DAZ-associated protein 2 168 17319 6.69 0 Cytoplasm;Nucleus speckle;Nucleus NA NA Ubiquitinated by SMURF2, leading to proteasomal degradation. NA NA PE1 12 +NX_Q15040 Josephin-1 202 23198 8.78 0 Cytoplasm;Cell membrane NA Deubiquitinates monoubiquitinated probes (in vitro). When ubiquitinated, cleaves 'Lys-63'-linked and 'Lys-48'-linked poly-ubiquitin chains (in vitro), hence may act as a deubiquitinating enzyme. May increase macropinocytosis and suppress clathrin- and caveolae-mediated endocytosis. May enhance membrane dynamics and cell motility independently of its catalytic activity. Monoubiquitinated (By similarity). Ubiquitination activates deubiquitination activity in vitro. NA Josephin domain DUBs PE1 22 +NX_Q15041 ADP-ribosylation factor-like protein 6-interacting protein 1 203 23363 9.38 3 Cytoplasm;Endoplasmic reticulum membrane;Cell membrane;Endomembrane system;Endoplasmic reticulum Spastic paraplegia 61, autosomal recessive Positively regulates SLC1A1/EAAC1-mediated glutamate transport by increasing its affinity for glutamate in a PKC activity-dependent manner. Promotes the catalytic efficiency of SLC1A1/EAAC1 probably by reducing its interaction with ARL6IP5, a negative regulator of SLC1A1/EAAC1-mediated glutamate transport (By similarity). Plays a role in the formation and stabilization of endoplasmic reticulum tubules (PubMed:24262037). Negatively regulates apoptosis, possibly by modulating the activity of caspase-9 (CASP9). Inhibits cleavage of CASP9-dependent substrates and downstream markers of apoptosis but not CASP9 itself (PubMed:12754298). May be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation (PubMed:10995579). NA Belongs to the ARL6ip family. NA PE1 16 +NX_Q15042 Rab3 GTPase-activating protein catalytic subunit 981 110524 5.38 0 Nucleoplasm;Cytosol;Cytoplasm Warburg micro syndrome 1 Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters. NA Belongs to the Rab3-GAP catalytic subunit family. COPI-independent Golgi-to-ER retrograde traffic;RAB GEFs exchange GTP for GDP on RABs PE1 2 +NX_Q15043 Zinc transporter ZIP14 492 54212 5.16 6 Cytoplasm;Golgi apparatus;Cell membrane;Endoplasmic reticulum;Lamellipodium Hyperostosis cranialis interna;Hypermanganesemia with dystonia 2 Broad-scope metal ion transporter with a preference for zinc uptake (PubMed:29621230). Also mediates cellular uptake of nontransferrin-bound iron. NA Belongs to the ZIP transporter (TC 2.A.5) family. Zinc influx into cells by the SLC39 gene family PE1 8 +NX_Q15046 Lysine--tRNA ligase 597 68048 5.94 0 Cytoplasm;Mitochondrion;Cell membrane;Secreted;Cytosol;Nucleus Deafness, autosomal recessive, 89;Charcot-Marie-Tooth disease, recessive, intermediate type, B Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA (PubMed:9278442, PubMed:18029264, PubMed:18272479). When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages (PubMed:15851690). Catalyzes the synthesis of the signaling molecule diadenosine tetraphosphate (Ap4A), and thereby mediates disruption of the complex between HINT1 and MITF and the concomitant activation of MITF transcriptional activity (PubMed:5338216, PubMed:14975237, PubMed:19524539, PubMed:23159739).;(Microbial infection) Interacts with HIV-1 virus GAG protein, facilitating the selective packaging of tRNA(3)(Lys), the primer for reverse transcription initiation. Phosphorylated on a serine residue after mast cell stimulation with immunoglobulin E (IgE). Belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation;Cytosolic tRNA aminoacylation;Selenoamino acid metabolism PE1 16 +NX_Q15047 Histone-lysine N-methyltransferase SETDB1 1291 143157 5.74 0 Cytoplasm;Chromosome;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3. H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. H3 'Lys-9' trimethylation is coordinated with DNA methylation (PubMed:12869583, PubMed:17952062). Required for HUSH-mediated heterochromatin formation and gene silencing. Forms a complex with MBD1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation (PubMed:27732843, PubMed:14536086). Its activity is dependent on MBD1 and is heritably maintained through DNA replication by being recruited by CAF-1 (PubMed:14536086, PubMed:15327775). SETDB1 is targeted to histone H3 by TRIM28/TIF1B, a factor recruited by KRAB zinc-finger proteins. Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (PubMed:24623306). Required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (PubMed:24623306). In ESCs, in collaboration with TRIM28, is also required for H3K9me3 and silencing of endogenous and introduced retroviruses in a DNA-methylation independent-pathway (By similarity). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing (PubMed:24623306). The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions (PubMed:27029610). Degraded by the proteasome, shielded by interaction with ATF7IP. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar3-9 subfamily. Lysine degradation;PKMTs methylate histone lysines PE1 1 +NX_Q15048 Leucine-rich repeat-containing protein 14 493 54513 6.43 0 Nucleoplasm;Cytoplasm;Cytosol NA Negatively regulates Toll-like receptor-mediated NF-kappa-B signaling by disrupting IKK core complex formation through interaction with IKBKB. NA Belongs to the PRAME family. LRRC14 subfamily. NA PE1 8 +NX_Q15049 Membrane protein MLC1 377 41141 7.46 8 Membrane;Endoplasmic reticulum;Perinuclear region;Cell membrane Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx. NA NA NA PE1 22 +NX_Q15050 Ribosome biogenesis regulatory protein homolog 365 41193 10.69 0 Nucleolus NA Involved in ribosomal large subunit assembly. May regulate the localization of the 5S RNP/5S ribonucleoprotein particle to the nucleolus. Citrullinated by PADI4. Belongs to the RRS1 family. NA PE1 8 +NX_Q15051 IQ calmodulin-binding motif-containing protein 1 598 68929 9.19 0 Spindle;Centrosome;Centriole;Cytoskeleton Senior-Loken syndrome 5;Leber congenital amaurosis 10 Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6 (PubMed:21565611, PubMed:23446637). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6 (PubMed:25552655). NA NA Anchoring of the basal body to the plasma membrane PE1 3 +NX_Q15052 Rho guanine nucleotide exchange factor 6 776 87499 5.79 0 Lamellipodium;Cytosol NA Acts as a RAC1 guanine nucleotide exchange factor (GEF). NA NA Regulation of actin cytoskeleton;Pancreatic cancer;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events;Regulation of cytoskeletal remodeling and cell spreading by IPP complex components;G beta:gamma signalling through CDC42 PE1 X +NX_Q15053 Uncharacterized protein KIAA0040 99 11435 9.54 1 Membrane;Nucleoplasm NA NA NA NA NA PE1 1 +NX_Q15054 DNA polymerase delta subunit 3 466 51400 9.38 0 Nucleoplasm;Cytoplasm;Nucleus NA As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Pol-delta4, respectively), plays a role in high fidelity genome replication, including in lagging strand synthesis, and repair. Required for optimal Pol-delta activity. Stabilizes the Pol-delta complex and plays a major role in Pol-delta stimulation by PCNA (PubMed:10219083, PubMed:10852724, PubMed:11595739, PubMed:16510448, PubMed:24035200). Pol-delta3 and Pol-delta4 are characterized by the absence or the presence of POLD4. They exhibit differences in catalytic activity. Most notably, Pol-delta3 shows higher proofreading activity than Pol-delta4 (PubMed:19074196, PubMed:20334433). Although both Pol-delta3 and Pol-delta4 process Okazaki fragments in vitro, Pol-delta3 may also be better suited to fulfill this task, exhibiting near-absence of strand displacement activity compared to Pol-delta4 and stalling on encounter with the 5'-blocking oligonucleotides. Pol-delta3 idling process may avoid the formation of a gap, while maintaining a nick that can be readily ligated (PubMed:24035200). Along with DNA polymerase kappa, DNA polymerase delta carries out approximately half of nucleotide excision repair (NER) synthesis following UV irradiation. In this context, POLD3, along with PCNA and RFC1-replication factor C complex, is required to recruit POLD1, the catalytic subunit of the polymerase delta complex, to DNA damage sites (PubMed:20227374). Under conditions of DNA replication stress, required for the repair of broken replication forks through break-induced replication (BIR) (PubMed:24310611). Involved in the translesion synthesis (TLS) of templates carrying O6-methylguanine or abasic sites performed by Pol-delta4, independently of DNA polymerase zeta (REV3L) or eta (POLH). Facilitates abasic site bypass by DNA polymerase delta by promoting extension from the nucleotide inserted opposite the lesion (PubMed:19074196, PubMed:25628356, PubMed:27185888). Also involved in TLS, as a component of the POLZ complex. Along with POLD2, dramatically increases the efficiency and processivity of DNA synthesis of the minimal DNA polymerase zeta complex, consisting of only REV3L and REV7 (PubMed:24449906). Ubiquitinated, but not targeted to the proteasome (PubMed:16934752). Sumoylated (PubMed:16934752, PubMed:25218447). Sumoylation with SUMO3 may be predominant (PubMed:16934752).;Phosphorylation at Ser-458 is catalyzed in vitro by PKA. It is thought to decrease the affinity for PCNA and Pol-delta4 processivity (PubMed:22148433). Can also be phosphorylated in vitro by CDK1-cyclin-A complex, as well as CDK2-cyclin-A and CDK2-cyclin-E complexes. PCNA interferes with CDK-cyclin phosphorylation (PubMed:11595739). NA Purine metabolism;Pyrimidine metabolism;Metabolic pathways;DNA replication;Base excision repair;Nucleotide excision repair;Mismatch repair;Homologous recombination;HTLV-I infection;Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha);Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta);Termination of translesion DNA synthesis;PCNA-Dependent Long Patch Base Excision Repair;Recognition of DNA damage by PCNA-containing replication complex;Polymerase switching on the C-strand of the telomere;Processive synthesis on the C-strand of the telomere;Telomere C-strand (Lagging Strand) Synthesis;Removal of the Flap Intermediate from the C-strand;Polymerase switching;Removal of the Flap Intermediate;Processive synthesis on the lagging strand;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Homologous Recombination (HRR);Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER PE1 11 +NX_Q15056 Eukaryotic translation initiation factor 4H 248 27385 6.67 0 Cytoplasm;Nucleoplasm;Cytosol;Perinuclear region;Nucleus NA Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA. NA NA L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S PE1 7 +NX_Q15057 Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 778 88029 6.38 0 Endosome;Endosome membrane NA GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6). NA NA Endocytosis PE1 3 +NX_Q15058 Kinesin-like protein KIF14 1648 186492 8.06 0 Cytoplasm;Nucleus;Cytosol;Spindle;Midbody;Midbody ring Microcephaly 20, primary, autosomal recessive;Meckel syndrome 12 Microtubule motor protein that binds to microtubules with high affinity through each tubulin heterodimer and has an ATPase activity (By similarity). Plays a role in many processes like cell division, cytokinesis and also in cell proliferation and apoptosis (PubMed:24784001, PubMed:16648480). During cytokinesis, targets to central spindle and midbody through its interaction with PRC1 and CIT respectively (PubMed:16431929). Regulates cell growth through regulation of cell cycle progression and cytokinesis (PubMed:24854087). During cell cycle progression acts through SCF-dependent proteasomal ubiquitin-dependent protein catabolic process which controls CDKN1B degradation, resulting in positive regulation of cyclins, including CCNE1, CCND1 and CCNB1 (PubMed:24854087). During late neurogenesis, regulates the cerebellar, cerebral cortex and olfactory bulb development through regulation of apoptosis, cell proliferation and cell division (By similarity). Also is required for chromosome congression and alignment during mitotic cell cycle process (PubMed:15843429). Regulates cell spreading, focal adhesion dynamics, and cell migration through its interaction with RADIL resulting in regulation of RAP1A-mediated inside-out integrin activation by tethering RADIL on microtubules (PubMed:23209302). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. RHO GTPases activate CIT PE1 1 +NX_Q15059 Bromodomain-containing protein 3 726 79542 9.39 0 Nucleus NA Chromatin reader that recognizes and binds hyperacetylated chromatin and plays a role in the regulation of transcription, probably by chromatin remodeling and interaction with transcription factors (PubMed:18406326, PubMed:27105114). Regulates transcription by promoting the binding of the transcription factor GATA1 to its targets (By similarity). NA NA NA PE1 9 +NX_Q15061 WD repeat-containing protein 43 677 74891 5.37 0 Nucleoplasm;Nucleus;Nucleolus fibrillar center;Nucleolus NA Ribosome biogenesis factor that coordinates hyperactive transcription and ribogenesis (PubMed:17699751). Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I (PubMed:17699751). Essential for stem cell pluripotency and embryonic development. In the nucleoplasm, recruited by promoter-associated/nascent transcripts and transcription to active promoters where it facilitates releases of elongation factor P-TEFb and paused RNA polymerase II to allow transcription elongation and maintain high-level expression of its targets genes (By similarity). NA Belongs to the UTP5 family. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 2 +NX_Q15063 Periostin 836 93314 7.27 0 Golgi apparatus;Nucleoplasm;Extracellular matrix;Secreted NA Induces cell attachment and spreading and plays a role in cell adhesion (PubMed:12235007). Enhances incorporation of BMP1 in the fibronectin matrix of connective tissues, and subsequent proteolytic activation of lysyl oxidase LOX (By similarity). Gamma-carboxylation is controversial. Gamma-carboxyglutamated; gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation; this may be required for calcium binding (PubMed:18450759). According to a more recent report, does not contain vitamin K-dependent gamma-carboxyglutamate residues (PubMed:26273833). NA NA PE1 13 +NX_Q15067 Peroxisomal acyl-coenzyme A oxidase 1 660 74424 8.35 0 Peroxisome;Nucleolus Adrenoleukodystrophy, pseudoneonatal Is twice as active as isoform 1 against 16-hydroxy-palmitoyl-CoA and is 25% more active against 1,16-hexadecanodioyl-CoA (PubMed:17603022).;Catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs (PubMed:17458872, PubMed:17603022).;Shows highest activity against medium-chain fatty acyl-CoAs and activity decreases with increasing chain length (PubMed:17603022).;Is active against a much broader range of substrates and shows activity towards very long-chain acyl-CoAs (PubMed:17603022). NA Belongs to the acyl-CoA oxidase family. Lipid metabolism; peroxisomal fatty acid beta-oxidation.;Fatty acid metabolism;alpha-Linolenic acid metabolism;Biosynthesis of unsaturated fatty acids;Metabolic pathways;PPAR signaling pathway;Peroxisome;PPARA activates gene expression;alpha-linolenic acid (ALA) metabolism;Beta-oxidation of very long chain fatty acids;Peroxisomal protein import;TYSND1 cleaves peroxisomal proteins PE1 17 +NX_Q15070 Mitochondrial inner membrane protein OXA1L 435 48548 9.53 5 Mitochondrion inner membrane;Mitochondrion NA Required for the insertion of integral membrane proteins into the mitochondrial inner membrane. Essential for the activity and assembly of cytochrome oxidase. Required for the correct biogenesis of ATP synthase and complex I in mitochondria. NA Belongs to the OXA1/ALB3/YidC family. Protein export;Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 14 +NX_Q15072 Zinc finger protein OZF 292 33308 9.15 0 Nucleolus;Nucleus NA NA Sumoylated. Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q15075 Early endosome antigen 1 1411 162466 5.55 0 Endoplasmic reticulum;Cytoplasm;Early endosome membrane;Cytoplasmic vesicle NA Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in endosomal trafficking. NA NA Toll Like Receptor 9 (TLR9) Cascade PE1 12 +NX_Q15077 P2Y purinoceptor 6 328 36429 9.61 7 Cell membrane NA Receptor for extracellular UDP > UTP > ATP. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (q) signalling events;P2Y receptors PE1 11 +NX_Q15078 Cyclin-dependent kinase 5 activator 1 307 34060 9.44 0 Cell membrane;Perikaryon;Nucleoplasm;Cytoplasmic vesicle;Neuron projection;Perinuclear region;Nucleus NA P35 is a neuron specific activator of CDK5. The complex p35/CDK5 is required for neurite outgrowth and cortical lamination. Involved in dendritic spine morphogenesis by mediating the EFNA1-EPHA4 signaling. Activator of TPKII. The complex p35/CDK5 participates in the regulation of the circadian clock by modulating the function of CLOCK protein: phosphorylates CLOCK at 'Thr-451' and 'Thr-461' and regulates the transcriptional activity of the CLOCK-ARNTL/BMAL1 heterodimer in association with altered stability and subcellular distribution. Myristoylated. A proper myristoylation signal is essential for the proper distribution of p35.;Phosphorylation at Ser-8 and Thr-138 by CDK5 prevents calpain-mediated proteolysis.;The p35 form is proteolytically cleaved by calpain, giving rise to the p25 form. P35 has a 5 to 10 fold shorter half-life compared to p25. The conversion results in deregulation of the CDK5 kinase: p25/CDK5 kinase displays an increased and altered tau phosphorylation in comparison to the p35/CDK5 kinase in vivo (By similarity).;Ubiquitinated. Degradation of p35 by proteasome results in down-regulation of CDK5 activity. During this process, CDK5 phosphorylates p35 and induces its ubiquitination and subsequent degradation. Belongs to the cyclin-dependent kinase 5 activator family. Alzheimer's disease;CRMPs in Sema3A signaling;Regulation of TP53 Activity through Phosphorylation;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models;Activated NTRK2 signals through CDK5 PE1 17 +NX_Q15080 Neutrophil cytosol factor 4 339 39032 6.4 0 Membrane;Cytosol;Endosome membrane Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive Component of the NADPH-oxidase, a multicomponent enzyme system responsible for the oxidative burst in which electrons are transported from NADPH to molecular oxygen, generating reactive oxidant intermediates. It may be important for the assembly and/or activation of the NADPH-oxidase complex. NA NA Phagosome;Osteoclast differentiation;Leukocyte transendothelial migration;Leishmaniasis;Detoxification of Reactive Oxygen Species;VEGFA-VEGFR2 Pathway;ROS and RNS production in phagocytes;Cross-presentation of particulate exogenous antigens (phagosomes);RHO GTPases Activate NADPH Oxidases PE1 22 +NX_Q15084 Protein disulfide-isomerase A6 440 48121 4.95 0 Cell membrane;Endoplasmic reticulum;Melanosome;Cytosol;Endoplasmic reticulum lumen NA May function as a chaperone that inhibits aggregation of misfolded proteins (PubMed:12204115). Negatively regulates the unfolded protein response (UPR) through binding to UPR sensors such as ERN1, which in turn inactivates ERN1 signaling (PubMed:24508390). May also regulate the UPR via the EIF2AK3 UPR sensor (PubMed:24508390). Plays a role in platelet aggregation and activation by agonists such as convulxin, collagen and thrombin (PubMed:15466936). NA Belongs to the protein disulfide isomerase family. Protein processing in endoplasmic reticulum;XBP1(S) activates chaperone genes;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 2 +NX_Q15102 Platelet-activating factor acetylhydrolase IB subunit gamma 231 25734 6.33 0 Cytoplasm;Cytoskeleton NA Inactivates paf by removing the acetyl group at the sn-2 position. This is a catalytic subunit. Plays an important role during the development of brain. NA Belongs to the 'GDSL' lipolytic enzyme family. Platelet-activating factor acetylhydrolase IB beta/gamma subunits subfamily. Ether lipid metabolism;Metabolic pathways;COPI-independent Golgi-to-ER retrograde traffic PE1 19 +NX_Q15109 Advanced glycosylation end product-specific receptor 404 42803 5.83 1 Cell junction;Secreted;Nucleolus;Cell membrane NA Mediates interactions of advanced glycosylation end products (AGE). These are nonenzymatically glycosylated proteins which accumulate in vascular tissue in aging and at an accelerated rate in diabetes. Acts as a mediator of both acute and chronic vascular inflammation in conditions such as atherosclerosis and in particular as a complication of diabetes. AGE/RAGE signaling plays an important role in regulating the production/expression of TNF-alpha, oxidative stress, and endothelial dysfunction in type 2 diabetes. Interaction with S100A12 on endothelium, mononuclear phagocytes, and lymphocytes triggers cellular activation, with generation of key proinflammatory mediators. Interaction with S100B after myocardial infarction may play a role in myocyte apoptosis by activating ERK1/2 and p53/TP53 signaling (By similarity). Receptor for amyloid beta peptide. Contributes to the translocation of amyloid-beta peptide (ABPP) across the cell membrane from the extracellular to the intracellular space in cortical neurons. ABPP-initiated RAGE signaling, especially stimulation of p38 mitogen-activated protein kinase (MAPK), has the capacity to drive a transport system delivering ABPP as a complex with RAGE to the intraneuronal space. Can also bind oligonucleotides. NA NA Advanced glycosylation endproduct receptor signaling;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated NF-kB activation PE1 6 +NX_Q15111 Inactive phospholipase C-like protein 1 1095 122728 5.46 0 Cytoplasm NA Involved in an inositol phospholipid-based intracellular signaling cascade. Shows no PLC activity to phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol. Component in the phospho-dependent endocytosis process of GABA A receptor (By similarity). Regulates the turnover of receptors and thus contributes to the maintenance of GABA-mediated synaptic inhibition. Its aberrant expression could contribute to the genesis and progression of lung carcinoma. Acts as an inhibitor of PPP1C. Phosphorylated by the catalytic subunit of PKA. Phosphorylation of Thr-93 resulted in dissociation of PPP1C from PRIP1 (By similarity). NA GABAergic synapse PE1 2 +NX_Q15113 Procollagen C-endopeptidase enhancer 1 449 47972 7.41 0 Golgi apparatus;Cytoplasmic vesicle;Secreted NA Binds to the C-terminal propeptide of type I procollagen and enhances procollagen C-proteinase activity.;C-terminal processed part of PCPE (CT-PCPE) may have an metalloproteinase inhibitory activity. C-terminally processed at multiple positions. NA Collagen biosynthesis and modifying enzymes;Crosslinking of collagen fibrils PE1 7 +NX_Q15116 Programmed cell death protein 1 288 31647 8.25 1 Cell membrane Systemic lupus erythematosus 2 Inhibitory receptor on antigen activated T-cells that plays a critical role in induction and maintenance of immune tolerance to self (PubMed:21276005). Delivers inhibitory signals upon binding to ligands CD274/PDCD1L1 and CD273/PDCD1LG2 (PubMed:21276005). Following T-cell receptor (TCR) engagement, PDCD1 associates with CD3-TCR in the immunological synapse and directly inhibits T-cell activation (By similarity). Suppresses T-cell activation through the recruitment of PTPN11/SHP-2: following ligand-binding, PDCD1 is phosphorylated within the ITSM motif, leading to the recruitment of the protein tyrosine phosphatase PTPN11/SHP-2 that mediates dephosphorylation of key TCR proximal signaling molecules, such as ZAP70, PRKCQ/PKCtheta and CD247/CD3zeta (By similarity).;The PDCD1-mediated inhibitory pathway is exploited by tumors to attenuate anti-tumor immunity and escape destruction by the immune system, thereby facilitating tumor survival (PubMed:28951311). The interaction with CD274/PDCD1L1 inhibits cytotoxic T lymphocytes (CTLs) effector function (PubMed:28951311). The blockage of the PDCD1-mediated pathway results in the reversal of the exhausted T-cell phenotype and the normalization of the anti-tumor response, providing a rationale for cancer immunotherapy (PubMed:22658127, PubMed:25034862, PubMed:25399552). Ubiquitinated at Lys-233 by the SCF(FBXO38) complex, leading to its proteasomal degradation (PubMed:30487606). Ubiquitinated via 'Lys-48'-linked polyubiquitin chains (PubMed:30487606).;Tyrosine phosphorylated at Tyr-223 (within ITIM motif) and Tyr-248 (ITSM motif) upon ligand binding. Phosphorylation at Tyr-248 promotes the recruitment of the protein tyrosine phosphatase PTPN11/SHP-2 that mediates dephosphorylation of key TCR proximal signaling molecules, such as ZAP70, PRKCQ/PKCtheta and CD247/CD3zeta.;N-glycosylation at Asn-58 consists of two N-acetylglucosamine units and one fucose (PubMed:28165004). N-glycosylation does not affect binding to nivolumab drug (PubMed:28165004). NA Cell adhesion molecules (CAMs);T cell receptor signaling pathway;PD-1 signaling PE1 2 +NX_Q15118 [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial 436 49244 8.92 0 Mitochondrion matrix;Mitochondrion;Nucleolus NA Kinase that plays a key role in regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Plays an important role in cellular responses to hypoxia and is important for cell proliferation under hypoxia. Protects cells against apoptosis in response to hypoxia and oxidative stress. Phosphorylated by constitutively activated ABL1, FGFR1, FLT3 and JAK2 (in vitro), and this may also occur in cancer cells that express constitutively activated ABL1, FGFR1, FLT3 and JAK2. Phosphorylation at Tyr-243 and Tyr-244 strongly increases kinase activity, while phosphorylation at Tyr-136 has a lesser effect. Belongs to the PDK/BCKDK protein kinase family. T cell receptor signaling pathway;Fc epsilon RI signaling pathway;Neurotrophin signaling pathway;Toxoplasmosis;Hepatitis C;Signaling by Retinoic Acid;Regulation of pyruvate dehydrogenase (PDH) complex PE1 2 +NX_Q15119 [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial 407 46154 6.14 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion NA Kinase that plays a key role in the regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Inhibition of pyruvate dehydrogenase decreases glucose utilization and increases fat metabolism. Mediates cellular responses to insulin. Plays an important role in maintaining normal blood glucose levels and in metabolic adaptation to nutrient availability. Via its regulation of pyruvate dehydrogenase activity, plays an important role in maintaining normal blood pH and in preventing the accumulation of ketone bodies under starvation. Plays a role in the regulation of cell proliferation and in resistance to apoptosis under oxidative stress. Plays a role in p53/TP53-mediated apoptosis. NA Belongs to the PDK/BCKDK protein kinase family. Signaling by Retinoic Acid;Regulation of pyruvate dehydrogenase (PDH) complex PE1 17 +NX_Q15120 [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial 406 46939 8.46 0 Mitochondrion matrix;Mitochondrion;Nucleolus Charcot-Marie-Tooth disease, X-linked dominant, 6 Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under starvation. Plays a role in the generation of reactive oxygen species. NA Belongs to the PDK/BCKDK protein kinase family. Signaling by Retinoic Acid;Regulation of pyruvate dehydrogenase (PDH) complex PE1 X +NX_Q15121 Astrocytic phosphoprotein PEA-15 130 15040 4.93 0 Nucleoplasm;Cytosol;Cytoplasm NA Blocks Ras-mediated inhibition of integrin activation and modulates the ERK MAP kinase cascade. Inhibits RPS6KA3 activities by retaining it in the cytoplasm (By similarity). Inhibits both TNFRSF6- and TNFRSF1A-mediated CASP8 activity and apoptosis. Regulates glucose transport by controlling both the content of SLC2A1 glucose transporters on the plasma membrane and the insulin-dependent trafficking of SLC2A4 from the cell interior to the surface. Phosphorylated by protein kinase C and calcium-calmodulin-dependent protein kinase. These phosphorylation events are modulated by neurotransmitters or hormones. NA RAF/MAP kinase cascade;RAF-independent MAPK1/3 activation PE1 1 +NX_Q15124 Phosphoglucomutase-like protein 5 567 62225 6.81 0 Adherens junction;Cytoskeleton NA Component of adherens-type cell-cell and cell-matrix junctions. Lacks phosphoglucomutase activity. NA Belongs to the phosphohexose mutase family. NA PE1 9 +NX_Q15125 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase 230 26353 7.76 4 Endoplasmic reticulum;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Nucleus envelope MEND syndrome;Chondrodysplasia punctata 2, X-linked dominant Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers. NA Belongs to the EBP family. Steroid biosynthesis; cholesterol biosynthesis.;Steroid biosynthesis;Metabolic pathways;Cholesterol biosynthesis via desmosterol;Cholesterol biosynthesis via lathosterol PE1 X +NX_Q15126 Phosphomevalonate kinase 192 21995 5.56 0 Cytosol Porokeratosis 1, multiple types NA NA NA Isoprenoid biosynthesis; isopentenyl diphosphate biosynthesis via mevalonate pathway; isopentenyl diphosphate from (R)-mevalonate: step 2/3.;Terpenoid backbone biosynthesis;Metabolic pathways;Peroxisome;Cholesterol biosynthesis;Activation of gene expression by SREBF (SREBP) PE1 1 +NX_Q15131 Cyclin-dependent kinase 10 360 41038 9.06 0 Nucleoplasm;Cilium basal body;Midbody;Midbody ring Al Kaissi syndrome Cyclin-dependent kinase that phosphorylates the transcription factor ETS2 (in vitro) and positively controls its proteasomal degradation (in cells) (PubMed:24218572). Involved in the regulation of actin cytoskeleton organization through the phosphorylation of actin dynamics regulators such as PKN2. Is a negative regulator of ciliogenesis through phosphorylation of PKN2 and promotion of RhoA signaling (PubMed:27104747). NA Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. NA PE1 16 +NX_Q15139 Serine/threonine-protein kinase D1 912 101704 6.16 0 trans-Golgi network;Cytoplasm;Cytosol;Cell membrane Congenital heart defects and ectodermal dysplasia Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of MAPK8/JNK1 and Ras signaling, Golgi membrane integrity and trafficking, cell survival through NF-kappa-B activation, cell migration, cell differentiation by mediating HDAC7 nuclear export, cell proliferation via MAPK1/3 (ERK1/2) signaling, and plays a role in cardiac hypertrophy, VEGFA-induced angiogenesis, genotoxic-induced apoptosis and flagellin-stimulated inflammatory response. Phosphorylates the epidermal growth factor receptor (EGFR) on dual threonine residues, which leads to the suppression of epidermal growth factor (EGF)-induced MAPK8/JNK1 activation and subsequent JUN phosphorylation. Phosphorylates RIN1, inducing RIN1 binding to 14-3-3 proteins YWHAB, YWHAE and YWHAZ and increased competition with RAF1 for binding to GTP-bound form of Ras proteins (NRAS, HRAS and KRAS). Acts downstream of the heterotrimeric G-protein beta/gamma-subunit complex to maintain the structural integrity of the Golgi membranes, and is required for protein transport along the secretory pathway. In the trans-Golgi network (TGN), regulates the fission of transport vesicles that are on their way to the plasma membrane. May act by activating the lipid kinase phosphatidylinositol 4-kinase beta (PI4KB) at the TGN for the local synthesis of phosphorylated inositol lipids, which induces a sequential production of DAG, phosphatidic acid (PA) and lyso-PA (LPA) that are necessary for membrane fission and generation of specific transport carriers to the cell surface. Under oxidative stress, is phosphorylated at Tyr-463 via SRC-ABL1 and contributes to cell survival by activating IKK complex and subsequent nuclear translocation and activation of NFKB1. Involved in cell migration by regulating integrin alpha-5/beta-3 recycling and promoting its recruitment in newly forming focal adhesion. In osteoblast differentiation, mediates the bone morphogenetic protein 2 (BMP2)-induced nuclear export of HDAC7, which results in the inhibition of HDAC7 transcriptional repression of RUNX2. In neurons, plays an important role in neuronal polarity by regulating the biogenesis of TGN-derived dendritic vesicles, and is involved in the maintenance of dendritic arborization and Golgi structure in hippocampal cells. May potentiate mitogenesis induced by the neuropeptide bombesin or vasopressin by mediating an increase in the duration of MAPK1/3 (ERK1/2) signaling, which leads to accumulation of immediate-early gene products including FOS that stimulate cell cycle progression. Plays an important role in the proliferative response induced by low calcium in keratinocytes, through sustained activation of MAPK1/3 (ERK1/2) pathway. Downstream of novel PKC signaling, plays a role in cardiac hypertrophy by phosphorylating HDAC5, which in turn triggers XPO1/CRM1-dependent nuclear export of HDAC5, MEF2A transcriptional activation and induction of downstream target genes that promote myocyte hypertrophy and pathological cardiac remodeling. Mediates cardiac troponin I (TNNI3) phosphorylation at the PKA sites, which results in reduced myofilament calcium sensitivity, and accelerated crossbridge cycling kinetics. The PRKD1-HDAC5 pathway is also involved in angiogenesis by mediating VEGFA-induced specific subset of gene expression, cell migration, and tube formation. In response to VEGFA, is necessary and required for HDAC7 phosphorylation which induces HDAC7 nuclear export and endothelial cell proliferation and migration. During apoptosis induced by cytarabine and other genotoxic agents, PRKD1 is cleaved by caspase-3 at Asp-378, resulting in activation of its kinase function and increased sensitivity of cells to the cytotoxic effects of genotoxic agents. In epithelial cells, is required for transducing flagellin-stimulated inflammatory responses by binding and phosphorylating TLR5, which contributes to MAPK14/p38 activation and production of inflammatory cytokines. May play a role in inflammatory response by mediating activation of NF-kappa-B. May be involved in pain transmission by directly modulating TRPV1 receptor. Plays a role in activated KRAS-mediated stabilization of ZNF304 in colorectal cancer (CRC) cells (PubMed:24623306). Regulates nuclear translocation of transcription factor TFEB in macrophages upon live S.enterica infection (By similarity). Phosphorylated at Ser-397 and Ser-401 by MAPK13 during regulation of insulin secretion in pancreatic beta cells (PubMed:19135240). Phosphorylated by DAPK1 (PubMed:17703233). Phosphorylated at Tyr-95 and by ABL at Tyr-463, which primes the kinase in response to oxidative stress, and promotes a second step activating phosphorylation at Ser-738/Ser-742 by PKRD (PubMed:12637538, PubMed:15024053, PubMed:17804414). Phosphorylated on Ser-910 upon S.enterica infection in macrophages (By similarity).;PRKD1 is phosphorylated by DAPK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. PKD subfamily. Sphingolipid de novo biosynthesis PE1 14 +NX_Q15147 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 1175 134464 6.47 0 Nucleoplasm;Cytoskeleton Auriculocondylar syndrome 2 The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This form has a role in retina signal transduction. NA NA Inositol phosphate metabolism;Metabolic pathways;Calcium signaling pathway;Chemokine signaling pathway;Phosphatidylinositol signaling system;Vascular smooth muscle contraction;Wnt signaling pathway;Gap junction;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;Dopaminergic synapse;Long-term depression;GnRH signaling pathway;Melanogenesis;Endocrine and other factor-regulated calcium reabsorption;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Alzheimer's disease;Huntington's disease;Chagas disease (American trypanosomiasis);African trypanosomiasis;Amoebiasis;G alpha (q) signalling events;Synthesis of IP3 and IP4 in the cytosol;PLC beta mediated events PE1 20 +NX_Q15149 Plectin 4684 531791 5.74 0 Cytoplasm;Focal adhesion;Hemidesmosome;Cytosol;Cytoskeleton Epidermolysis bullosa simplex, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy;Muscular dystrophy, limb-girdle, autosomal recessive 17 Plays a major role in the maintenance of myofiber integrity.;Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics. Structural component of muscle. Phosphorylated by CDK1; regulates dissociation from intermediate filaments during mitosis. Belongs to the plakin or cytolinker family. Caspase-mediated cleavage of cytoskeletal proteins;Assembly of collagen fibrils and other multimeric structures;Type I hemidesmosome assembly PE1 8 +NX_Q15154 Pericentriolar material 1 protein 2024 228544 4.95 0 Centriolar satellite;Cilium basal body;Nucleus membrane;Centrosome;Cytosol;Cytoplasmic granule;Cytoskeleton NA Required for centrosome assembly and function (PubMed:12403812, PubMed:15659651, PubMed:16943179). Essential for the correct localization of several centrosomal proteins including CEP250, CETN3, PCNT and NEK2 (PubMed:12403812, PubMed:15659651). Required to anchor microtubules to the centrosome (PubMed:12403812, PubMed:15659651). Involved in the biogenesis of cilia (PubMed:20551181, PubMed:24121310). Variant Ser-159 is phosphorylated.;Phosphorylated on multiple serine and threonine residues by DYRK3 during the G2-to-M transition, after the nuclear-envelope breakdown (PubMed:29973724). Phosphorylation by DYRK3 promotes disassembly of pericentriolar material (PubMed:29973724).;Ubiquitinated. Undergoes monoubiquitination catalyzed by the E3 ubiquitin-protein ligase MIB1 in proliferating cells, preventing cilia formation (PubMed:24121310). Monoubiquitination by MIB1 is inhibited in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, resulting in cilia formation initiation (PubMed:24121310). Belongs to the PCM1 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 8 +NX_Q15155 Nodal modulator 1 1222 134324 5.54 1 Membrane;Endoplasmic reticulum NA May antagonize Nodal signaling. NA NA NA PE1 16 +NX_Q15165 Serum paraoxonase/arylesterase 2 354 39381 5.33 0 Membrane NA Capable of hydrolyzing lactones and a number of aromatic carboxylic acid esters. Has antioxidant activity. Is not associated with high density lipoprotein. Prevents LDL lipid peroxidation, reverses the oxidation of mildly oxidized LDL, and inhibits the ability of MM-LDL to induce monocyte chemotaxis. The signal sequence is not cleaved. Belongs to the paraoxonase family. Metabolic pathways;Synthesis of 5-eicosatetraenoic acids PE1 7 +NX_Q15166 Serum paraoxonase/lactonase 3 354 39607 5.24 0 Extracellular space NA Has low activity towards the organophosphate paraxon and aromatic carboxylic acid esters. Rapidly hydrolyzes lactones such as statin prodrugs (e.g. Lovastatin). Hydrolyzes aromatic lactones and 5- or 6-member ring lactones with aliphatic substituents but not simple lactones or those with polar substituents. The signal sequence is not cleaved. Belongs to the paraoxonase family. Metabolic pathways;Synthesis of 5-eicosatetraenoic acids PE1 7 +NX_Q15170 Transcription elongation factor A protein-like 1 157 18354 11.2 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. Modulates various viral and cellular promoters in a promoter context-dependent manner. For example, transcription from the FOS promoter is increased, while Rous sarcoma virus (RSV) long terminal repeat (LTR) promoter activity is repressed. Does not bind DNA directly. Phosphorylation of Ser-36 and Ser-37 is critical for transcriptional repression. Belongs to the TFS-II family. TFA subfamily. NA PE1 X +NX_Q15172 Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform 486 56194 6.28 0 Cytoplasm;Centromere;Nucleus;Cytosol NA The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. Phosphorylated on serine residues. Belongs to the phosphatase 2A regulatory subunit B56 family. mRNA surveillance pathway;Oocyte meiosis;Wnt signaling pathway;Dopaminergic synapse;Degradation of beta-catenin by the destruction complex;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Negative regulation of MAPK pathway;RAF activation;Disassembly of the destruction complex and recruitment of AXIN to the membrane;CTLA4 inhibitory signaling;Beta-catenin phosphorylation cascade;Misspliced GSK3beta mutants stabilize beta-catenin;S33 mutants of beta-catenin aren't phosphorylated;S37 mutants of beta-catenin aren't phosphorylated;S45 mutants of beta-catenin aren't phosphorylated;T41 mutants of beta-catenin aren't phosphorylated;APC truncation mutants have impaired AXIN binding;AXIN missense mutants destabilize the destruction complex;Truncations of AMER1 destabilize the destruction complex;Platelet sensitization by LDL;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 1 +NX_Q15173 Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform 497 57393 6.27 0 Cytoplasm NA As the regulatory component of the serine/threonine-protein phosphatase 2A (PP2A) holoenzyme, modulates substrate specificity, subcellular localization, and responsiveness to phosphorylation. The phosphorylated form mediates the interaction between PP2A and AKT1, leading to AKT1 dephosphorylation. Ubiquitinated by E3 CUL3-KLHL15 complex; this modification leads to proteasomal degradation. Belongs to the phosphatase 2A regulatory subunit B56 family. mRNA surveillance pathway;Oocyte meiosis;Wnt signaling pathway;Dopaminergic synapse;Degradation of beta-catenin by the destruction complex;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;XBP1(S) activates chaperone genes;Negative regulation of MAPK pathway;RAF activation;Disassembly of the destruction complex and recruitment of AXIN to the membrane;CTLA4 inhibitory signaling;Beta-catenin phosphorylation cascade;Misspliced GSK3beta mutants stabilize beta-catenin;S33 mutants of beta-catenin aren't phosphorylated;S37 mutants of beta-catenin aren't phosphorylated;S45 mutants of beta-catenin aren't phosphorylated;T41 mutants of beta-catenin aren't phosphorylated;APC truncation mutants have impaired AXIN binding;AXIN missense mutants destabilize the destruction complex;Truncations of AMER1 destabilize the destruction complex;Platelet sensitization by LDL;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 11 +NX_Q15181 Inorganic pyrophosphatase 289 32660 5.54 0 Cytoplasmic vesicle;Cytoplasm NA NA NA Belongs to the PPase family. Oxidative phosphorylation;Cytosolic tRNA aminoacylation;Pyrophosphate hydrolysis PE1 10 +NX_Q15185 Prostaglandin E synthase 3 160 18697 4.35 0 Nucleoplasm;Cytoplasm;Cytosol NA Cytosolic prostaglandin synthase that catalyzes the oxidoreduction of prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2) (PubMed:10922363). Molecular chaperone that localizes to genomic response elements in a hormone-dependent manner and disrupts receptor-mediated transcriptional activation, by promoting disassembly of transcriptional regulatory complexes (PubMed:11274138, PubMed:12077419). Facilitates HIF alpha proteins hydroxylation via interaction with EGLN1/PHD2, leading to recruit EGLN1/PHD2 to the HSP90 pathway (PubMed:24711448). NA Belongs to the p23/wos2 family. Lipid metabolism; prostaglandin biosynthesis.;Synthesis of Prostaglandins (PG) and Thromboxanes (TX);Attenuation phase;HSF1 activation;Aryl hydrocarbon receptor signalling;HSP90 chaperone cycle for steroid hormone receptors (SHR);Estrogen-dependent gene expression;ESR-mediated signaling PE1 12 +NX_Q15195 Plasminogen-like protein A 96 10915 6.11 0 Secreted NA May bind non-covalently to lysine binding sites present in the kringle structures of plasminogen. This may interfere with the binding of fibrin or alpha-2-antiplasmin to plasminogen and may result in the localization of activity at sites necessary for extracellular matrix destruction (By similarity). NA NA NA PE2 2 +NX_Q15198 Platelet-derived growth factor receptor-like protein 375 41861 8.75 0 Golgi apparatus;Nucleoplasm;Secreted;Nucleolus Colorectal cancer NA NA NA NA PE1 8 +NX_Q15208 Serine/threonine-protein kinase 38 465 54190 6.7 0 Cytoplasm;Nucleus NA Negative regulator of MAP3K1/2 signaling. Converts MAP3K2 from its phosphorylated form to its non-phosphorylated form and inhibits autophosphorylation of MAP3K2. ISGylated.;Phosphorylated by STK3/MST2 and this is enhanced by MOBKL1B.;STK38 is phosphorylated by STK3 Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. NA PE1 6 +NX_Q15223 Nectin-1 517 57158 5.77 1 Secreted;Presynaptic cell membrane;Cell membrane Ectodermal dysplasia, Margarita Island type;Non-syndromic orofacial cleft 7 (Microbial infection) Acts as a receptor for herpes simplex virus 1/HHV-1, herpes simplex virus 2/HHV-2, and pseudorabies virus/PRV.;Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between NECTIN1 and NECTIN3 and between NECTIN1 and NECTIN4. Has some neurite outgrowth-promoting activity. NA Belongs to the nectin family. Cell adhesion molecules (CAMs);Adherens junction;Herpes simplex infection;Adherens junctions interactions;Nectin/Necl trans heterodimerization PE1 11 +NX_Q15233 Non-POU domain-containing octamer-binding protein 471 54232 9.01 0 Nucleoplasm;Nucleus;Nucleus speckle;Nucleolus Mental retardation, X-linked, syndromic, 34 DNA- and RNA binding protein, involved in several nuclear processes. Binds the conventional octamer sequence in double-stranded DNA. Also binds single-stranded DNA and RNA at a site independent of the duplex site. Involved in pre-mRNA splicing, probably as a heterodimer with SFPQ. Interacts with U5 snRNA, probably by binding to a purine-rich sequence located on the 3' side of U5 snRNA stem 1b. Together with PSPC1, required for the formation of nuclear paraspeckles. The SFPQ-NONO heteromer associated with MATR3 may play a role in nuclear retention of defective RNAs. The SFPQ-NONO heteromer may be involved in DNA unwinding by modulating the function of topoisomerase I/TOP1. The SFPQ-NONO heteromer may be involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination and may stabilize paired DNA ends. In vitro, the complex strongly stimulates DNA end joining, binds directly to the DNA substrates and cooperates with the Ku70/G22P1-Ku80/XRCC5 (Ku) dimer to establish a functional preligation complex. NONO is involved in transcriptional regulation. The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. NONO binds to an enhancer element in long terminal repeats of endogenous intracisternal A particles (IAPs) and activates transcription. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Important for the functional organization of GABAergic synapses. Plays a specific and important role in the regulation of synaptic RNAs and GPHN/gephyrin scaffold structure, through the regulation of GABRA2 transcript. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728). The N-terminus is blocked. NA NA PE1 X +NX_Q15238 Pregnancy-specific beta-1-glycoprotein 5 335 37713 9 0 Secreted NA NA NA Belongs to the immunoglobulin superfamily. CEA family. Cell surface interactions at the vascular wall PE1 19 +NX_Q15256 Receptor-type tyrosine-protein phosphatase R 657 73834 8.62 1 Cytosol;Cell junction;Perinuclear region;Cell membrane NA Sequesters mitogen-activated protein kinases (MAPKs) such as MAPK1, MAPK3 and MAPK14 in the cytoplasm in an inactive form. The MAPKs bind to a dephosphorylated kinase interacting motif, phosphorylation of which by the protein kinase A complex releases the MAPKs for activation and translocation into the nucleus (By similarity). PTPRR is phosphorylated by MAPK7 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein-tyrosine phosphatase family. Receptor class 7 subfamily. MAPK signaling pathway PE1 12 +NX_Q15257 Serine/threonine-protein phosphatase 2A activator 358 40668 5.63 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Acts as a regulatory subunit for serine/threonine-protein phosphatase 2A (PP2A) modulating its activity or substrate specificity, probably by inducing a conformational change in the catalytic subunit, a proposed direct target of the PPIase. Can reactivate inactive phosphatase PP2A-phosphatase methylesterase complexes (PP2A(i)) in presence of ATP and Mg(2+) (By similarity). Reversibly stimulates the variable phosphotyrosyl phosphatase activity of PP2A core heterodimer PP2A(D) in presence of ATP and Mg(2+) (in vitro). The phosphotyrosyl phosphatase activity is dependent of an ATPase activity of the PP2A(D):PPP2R4 complex. Is involved in apoptosis; the function appears to be independent from PP2A. NA Belongs to the PTPA-type PPIase family. NA PE1 9 +NX_Q15262 Receptor-type tyrosine-protein phosphatase kappa 1439 162102 5.59 1 Cytoplasmic vesicle;Adherens junction;Cell junction;Cell membrane NA Regulation of processes involving cell contact and adhesion such as growth control, tumor invasion, and metastasis. Negative regulator of EGFR signaling pathway. Forms complexes with beta-catenin and gamma-catenin/plakoglobin. Beta-catenin may be a substrate for the catalytic activity of PTPRK/PTP-kappa. This protein undergoes proteolytic processing. Belongs to the protein-tyrosine phosphatase family. Receptor class 2B subfamily. EGFR downregulation PE1 6 +NX_Q15269 Periodic tryptophan protein 2 homolog 919 102452 5.76 0 Cytosol;Nucleolus NA NA NA Belongs to the WD repeat PWP2 family. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 21 +NX_Q15270 NK1 transcription factor-related protein 1 411 40659 5.93 0 Nucleus NA NA NA Belongs to the NK-1 homeobox family. NA PE2 4 +NX_Q15274 Nicotinate-nucleotide pyrophosphorylase [carboxylating] 297 30846 5.81 0 NA NA Involved in the catabolism of quinolinic acid (QA). NA Belongs to the NadC/ModD family. Cofactor biosynthesis; NAD(+) biosynthesis; nicotinate D-ribonucleotide from quinolinate: step 1/1.;Nicotinate and nicotinamide metabolism;Metabolic pathways;Nicotinate metabolism PE1 16 +NX_Q15276 Rab GTPase-binding effector protein 1 862 99290 4.95 0 Cytoplasmic vesicle;Early endosome;Cytoplasm;Recycling endosome NA Rab effector protein acting as linker between gamma-adaptin, RAB4A and RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Involved in KCNH1 channels trafficking to and from the cell membrane (PubMed:22841712). Stimulates RABGEF1 mediated nucleotide exchange on RAB5A. Mediates the traffic of PKD1:PKD2 complex from the endoplasmic reticulum through the Golgi to the cilium (By similarity). Proteolytic cleavage by caspases in apoptotic cells causes loss of endosome fusion activity. Belongs to the rabaptin family. Endocytosis;TBC/RABGAPs PE1 17 +NX_Q15283 Ras GTPase-activating protein 2 850 96614 6.84 0 Cytoplasm;Perinuclear region;Cytoplasmic vesicle NA Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4). NA NA MAPK signaling pathway;Regulation of RAS by GAPs;Signaling by RAS mutants PE1 3 +NX_Q15286 Ras-related protein Rab-35 201 23025 8.53 0 Clathrin-coated vesicle;Cell membrane;Clathrin-coated pit;Endosome;Melanosome NA The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in the process of endocytosis and is an essential rate-limiting regulator of the fast recycling pathway back to the plasma membrane. During cytokinesis, required for the postfurrowing terminal steps, namely for intercellular bridge stability and abscission, possibly by controlling phosphatidylinositol 4,5-bis phosphate (PIP2) and SEPT2 localization at the intercellular bridge. May indirectly regulate neurite outgrowth. Together with TBC1D13 may be involved in regulation of insulin-induced glucose transporter SLC2A4/GLUT4 translocation to the plasma membrane in adipocytes. Phosphocholinated by L.pneumophila AnkX. Both GDP-bound and GTP-bound forms can be phosphocholinated. Phosphocholination inhibits the GEF activity of DENND1A.;AMPylation at Tyr-77 by L.pneumophila DrrA occurs in the switch 2 region and leads to moderate inactivation of the GTPase activity. It appears to prolong the lifetime of the GTP state of RAB1B by restricting access of GTPase effectors to switch 2 and blocking effector-stimulated GTP hydrolysis, thereby rendering RAB35 constitutively active. Belongs to the small GTPase superfamily. Rab family. RAB GEFs exchange GTP for GDP on RABs;TBC/RABGAPs;RAB geranylgeranylation PE1 12 +NX_Q15287 RNA-binding protein with serine-rich domain 1 305 34208 11.85 0 Cytoplasm;Nucleoplasm;Nucleus speckle;Nucleus NA Part of pre- and post-splicing multiprotein mRNP complexes. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP and PSAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets. The ASAP complex can inhibit RNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Enhances the formation of the ATP-dependent A complex of the spliceosome. Involved in both constitutive splicing and, in association with SRP54 and TRA2B/SFRS10, in distinctive modulation of alternative splicing in a substrate-dependent manner. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function. Participates in mRNA 3'-end cleavage. Involved in UPF2-dependent nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Also mediates increase of mRNA abundance and translational efficiency. Binds spliced mRNA 20-25 nt upstream of exon-exon junctions. Phosphorylated on one or more of the four Ser/Thr residues (Ser-43, Thr-49, Ser-52 or Ser-53). Ser-53 phosphorylation site is important for splicing and translation stimulation activity in vitro. Belongs to the splicing factor SR family. RNA transport;mRNA surveillance pathway;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Regulation of expression of SLITs and ROBOs;RNA Polymerase II Transcription Termination PE1 16 +NX_Q15291 Retinoblastoma-binding protein 5 538 59153 4.96 0 Nucleoplasm;Nucleus;Nucleolus NA In embryonic stem (ES) cells, plays a crucial role in the differentiation potential, particularly along the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci, including that mediated by retinoic acid (By similarity). As part of the MLL1/MLL complex, involved in mono-, di- and trimethylation at 'Lys-4' of histone H3. Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. NA NA PKMTs methylate histone lysines;Formation of the beta-catenin:TCF transactivating complex;Deactivation of the beta-catenin transactivating complex;Activation of anterior HOX genes in hindbrain development during early embryogenesis;Neddylation;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 1 +NX_Q15293 Reticulocalbin-1 331 38890 4.86 0 Endoplasmic reticulum;Endoplasmic reticulum lumen NA May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment. O-glycosylated. O-mannosylated by POMT1 and POMT2 and elongated by POMGNT1. Belongs to the CREC family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 11 +NX_Q15303 Receptor tyrosine-protein kinase erbB-4 1308 146808 5.98 1 Mitochondrion;Nucleus;Cell membrane Amyotrophic lateral sclerosis 19 Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins and EGF family members and regulates development of the heart, the central nervous system and the mammary gland, gene transcription, cell proliferation, differentiation, migration and apoptosis. Required for normal cardiac muscle differentiation during embryonic development, and for postnatal cardiomyocyte proliferation. Required for normal development of the embryonic central nervous system, especially for normal neural crest cell migration and normal axon guidance. Required for mammary gland differentiation, induction of milk proteins and lactation. Acts as cell-surface receptor for the neuregulins NRG1, NRG2, NRG3 and NRG4 and the EGF family members BTC, EREG and HBEGF. Ligand binding triggers receptor dimerization and autophosphorylation at specific tyrosine residues that then serve as binding sites for scaffold proteins and effectors. Ligand specificity and signaling is modulated by alternative splicing, proteolytic processing, and by the formation of heterodimers with other ERBB family members, thereby creating multiple combinations of intracellular phosphotyrosines that trigger ligand- and context-specific cellular responses. Mediates phosphorylation of SHC1 and activation of the MAP kinases MAPK1/ERK2 and MAPK3/ERK1. Autophosphorylated on tyrosine residues in response to ligand binding. Autophosphorylation occurs in trans, i.e. One subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Ligands trigger phosphorylation at specific tyrosine residues, thereby creating binding sites for scaffold proteins and effectors. Constitutively phosphorylated at a basal level when overexpressed in heterologous systems; ligand binding leads to increased phosphorylation. Phosphorylation at Tyr-1035 is important for interaction with STAT1. Phosphorylation at Tyr-1056 is important for interaction with PIK3R1. Phosphorylation at Tyr-1242 is important for interaction with SHC1. Phosphorylation at Tyr-1188 may also contribute to the interaction with SHC1.;Ubiquitinated. During mitosis, the ERBB4 intracellular domain is ubiquitinated by the APC/C complex and targeted to proteasomal degradation. Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily. ErbB signaling pathway;Calcium signaling pathway;Endocytosis;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Signaling by ERBB2;Signaling by ERBB4;SHC1 events in ERBB2 signaling;PI3K events in ERBB4 signaling;SHC1 events in ERBB4 signaling;Nuclear signaling by ERBB4;GRB2 events in ERBB2 signaling;PI3K events in ERBB2 signaling;Downregulation of ERBB4 signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;ERBB2 Regulates Cell Motility;ERBB2 Activates PTK6 Signaling;Downregulation of ERBB2 signaling;Estrogen-dependent gene expression;Long-term potentiation PE1 2 +NX_Q15306 Interferon regulatory factor 4 451 51772 6.39 0 Nucleoplasm;Cytosol;Nucleus Multiple myeloma Transcriptional activator. Binds to the interferon-stimulated response element (ISRE) of the MHC class I promoter. Binds the immunoglobulin lambda light chain enhancer, together with PU.1. Probably plays a role in ISRE-targeted signal transduction mechanisms specific to lymphoid cells. Involved in CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF4 and activation of genes (By similarity). Phosphorylation by ROCK2 regulates IL-17 and IL-21 production.;IRF4 is phosphorylated by ROCK2 (Phosphoserine:PTM-0253) Belongs to the IRF family. Interferon gamma signaling;Interferon alpha/beta signaling;Interleukin-4 and Interleukin-13 signaling PE1 6 +NX_Q15311 RalA-binding protein 1 655 76063 5.68 0 Membrane;Cytoplasmic vesicle;Cytosol;Nucleus membrane NA Can activate specifically hydrolysis of GTP bound to RAC1 and CDC42, but not RALA. Mediates ATP-dependent transport of S-(2,4-dinitrophenyl)-glutathione (DNP-SG) and doxorubicin (DOX) and is the major ATP-dependent transporter of glutathione conjugates of electrophiles (GS-E) and DOX in erythrocytes. Can catalyze transport of glutathione conjugates and xenobiotics, and may contribute to the multidrug resistance phenomenon. Serves as a scaffold protein that brings together proteins forming an endocytotic complex during interphase and also with CDK1 to switch off endocytosis, One of its substrates would be EPN1/Epsin. NA NA Pathways in cancer;Pancreatic cancer;Rho GTPase cycle PE1 18 +NX_Q15319 POU domain, class 4, transcription factor 3 338 37052 9.16 0 Nucleoplasm;Cytoplasm;Nucleus Deafness, autosomal dominant, 15 Acts as a transcriptional activator (PubMed:18228599). Acts by binding to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes (PubMed:18228599). Involved in the auditory system development, required for terminal differentiation of hair cells in the inner ear (By similarity). NA Belongs to the POU transcription factor family. Class-4 subfamily. NA PE1 5 +NX_Q15323 Keratin, type I cuticular Ha1 416 47237 4.84 0 NA NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_Q15326 Zinc finger MYND domain-containing protein 11 602 70963 8.83 0 Nucleoplasm;Nucleus;Chromosome Mental retardation, autosomal dominant 30 Chromatin reader that specifically recognizes and binds histone H3.3 trimethylated at 'Lys-36' (H3.3K36me3) and regulates RNA polymerase II elongation. Does not bind other histone H3 subtypes (H3.1 or H3.2) (By similarity). Colocalizes with highly expressed genes and functions as a transcription corepressor by modulating RNA polymerase II at the elongation stage. Binds non-specifically to dsDNA (PubMed:24675531). Acts as a tumor-suppressor by repressing a transcriptional program essential for tumor cell growth.;(Microbial infection) Inhibits Epstein-Barr virus EBNA2-mediated transcriptional activation and host cell proliferation, through direct interaction. Sumoylated following its interaction with PIAS1 and UBE2I.;Ubiquitinated, leading to proteasomal degradation. NA NA PE1 10 +NX_Q15327 Ankyrin repeat domain-containing protein 1 319 36252 7.12 0 Nucleoplasm;Nucleus;Nucleolus Total anomalous pulmonary venous return May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells. NA NA PPARA activates gene expression PE1 10 +NX_Q15329 Transcription factor E2F5 346 37610 4.94 0 Nucleoplasm;Nucleus;Nucleolus;Cytoplasmic vesicle NA Transcriptional activator that binds to E2F sites, these sites are present in the promoter of many genes whose products are involved in cell proliferation. May mediate growth factor-initiated signal transduction. It is likely involved in the early responses of resting cells to growth factor stimulation. Specifically required for multiciliate cell differentiation: together with MCIDAS and E2F5, binds and activate genes required for centriole biogenesis. NA Belongs to the E2F/DP family. Cell cycle;TGF-beta signaling pathway;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;G0 and Early G1;G1/S-Specific Transcription;Cyclin E associated events during G1/S transition;Cyclin A:Cdk2-associated events at S phase entry;Cyclin D associated events in G1;Transcription of E2F targets under negative control by DREAM complex;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1 PE1 8 +NX_Q15334 Lethal(2) giant larvae protein homolog 1 1064 115418 5.87 0 trans-Golgi network membrane;Golgi apparatus membrane;Early endosome membrane;Axon;Cytoskeleton NA Cortical cytoskeleton protein found in a complex involved in maintaining cell polarity and epithelial integrity. Involved in the regulation of mitotic spindle orientation, proliferation, differentiation and tissue organization of neuroepithelial cells. Involved in axonogenesis through RAB10 activation thereby regulating vesicular membrane trafficking toward the axonal plasma membrane. Phosphorylated at least at Ser-663 by PRKCI. Belongs to the WD repeat L(2)GL family. Tight junction PE1 17 +NX_Q15345 Leucine-rich repeat-containing protein 41 812 88650 8.75 0 Nucleoplasm;Nucleus NA Probable substrate recognition component of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 1 +NX_Q15349 Ribosomal protein S6 kinase alpha-2 733 83239 8.82 0 Nucleoplasm;Cytoplasm;Nucleus NA Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of transcription factors, regulates translation, and mediates cellular proliferation, survival, and differentiation. May function as tumor suppressor in epithelial ovarian cancer cells. N-terminal myristoylation results in an activated kinase in the absence of added growth factors.;Activated by phosphorylation at Ser-218 by PDPK1. Autophosphorylated on Ser-377, as part of the activation process. May be phosphorylated at Thr-356 and Ser-360 by MAPK1/ERK2 and MAPK3/ERK1 (By similarity). Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily. MAPK signaling pathway;Oocyte meiosis;mTOR signaling pathway;Long-term potentiation;Neurotrophin signaling pathway;Progesterone-mediated oocyte maturation;Senescence-Associated Secretory Phenotype (SASP);Recycling pathway of L1;CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling;RSK activation;Gastrin-CREB signalling pathway via PKC and MAPK;ERK/MAPK targets;CREB phosphorylation PE1 6 +NX_Q15361 Transcription termination factor 1 905 103051 9.41 0 Nucleoplasm;Nucleolus;Nucleus NA Multifunctional nucleolar protein that terminates ribosomal gene transcription, mediates replication fork arrest and regulates RNA polymerase I transcription on chromatin. Plays a dual role in rDNA regulation, being involved in both activation and silencing of rDNA transcription. Interaction with BAZ2A/TIP5 recovers DNA-binding activity. NA NA NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Transcription Termination;Surfactant metabolism;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression PE1 9 +NX_Q15363 Transmembrane emp24 domain-containing protein 2 201 22761 5.08 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane;cis-Golgi network membrane;Golgi stack membrane;COPI-coated vesicle membrane;Cytoplasmic vesicle membrane;Cytoplasmic vesicle NA Involved in vesicular protein trafficking. Mainly functions in the early secretory pathway but also in post-Golgi membranes. Thought to act as cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and to be involved in vesicle coat formation at the cytoplasmic side. In COPII vesicle-mediated anterograde transport involved in the transport of GPI-anchored proteins and proposed to act together with TMED10 as their cargo receptor; the function specifically implies SEC24C and SEC24D of the COPII vesicle coat and lipid raft-like microdomains of the ER. Recognizes GPI anchors structural remodeled in the ER by PGAP1 and MPPE1. In COPI vesicle-mediated retrograde transport inhibits the GTPase-activating activity of ARFGAP1 towards ARF1 thus preventing immature uncoating and allowing cargo selection to take place. Involved in trafficking of G protein-coupled receptors (GPCRs). Regulates F2RL1, OPRM1 and P2RY4 exocytic trafficking from the Golgi to the plasma membrane thus contributing to receptor resensitization. Facilitates CASR maturation and stabilization in the early secretory pathway and increases CASR plasma membrane targeting. Proposed to be involved in organization of intracellular membranes such as the maintenance of the Golgi apparatus. May also play a role in the biosynthesis of secreted cargo such as eventual processing. NA Belongs to the EMP24/GP25L family. Pre-NOTCH Processing in Golgi;COPII-mediated vesicle transport;Cargo concentration in the ER;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 12 +NX_Q15365 Poly(rC)-binding protein 1 356 37498 6.66 0 Cytoplasm;Cytosol;Nucleus speckle;Nucleus NA Single-stranded nucleic acid binding protein that binds preferentially to oligo dC. In case of infection by poliovirus, plays a role in initiation of viral RNA replication in concert with the viral protein 3CD (PubMed:12414943). Phosphorylated; lowers poly(rC)-binding activity.;PCBP1 is phosphorylated by AKT2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Spliceosome;mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA PE1 2 +NX_Q15366 Poly(rC)-binding protein 2 365 38580 6.33 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Single-stranded nucleic acid binding protein that binds preferentially to oligo dC. Major cellular poly(rC)-binding protein. Binds also poly(rU). Negatively regulates cellular antiviral responses mediated by MAVS signaling (PubMed:19881509). It acts as an adapter between MAVS and the E3 ubiquitin ligase ITCH, therefore triggering MAVS ubiquitination and degradation (PubMed:19881509).;(Microbial infection) In case of infection by poliovirus, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation (PubMed:12414943, PubMed:24371074). Also plays a role in initiation of viral RNA replication in concert with the viral protein 3CD (PubMed:12414943). Phosphorylated. The non-phosphorylated form(s) exhibited the strongest poly(rC)-binding activity.;(Microbial infection) Proteolyticaly cleaved by picornavirus proteinase 3CD. NA mRNA Splicing - Major Pathway;Processing of Capped Intron-Containing Pre-mRNA;Negative regulators of DDX58/IFIH1 signaling PE1 12 +NX_Q15369 Elongin-C 112 12473 4.74 0 Cytoplasmic vesicle;Nucleolus;Cell junction;Nucleus NA SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex) (PubMed:7821821). In embryonic stem cells, the elongin BC complex is recruited by EPOP to Polycomb group (PcG) target genes in order generate genomic region that display both active and repressive chromatin properties, an important feature of pluripotent stem cells (By similarity).;The elongin BC complex seems to be involved as an adapter protein in the proteasomal degradation of target proteins via different E3 ubiquitin ligase complexes, including the von Hippel-Lindau ubiquitination complex CBC(VHL). By binding to BC-box motifs it seems to link target recruitment subunits, like VHL and members of the SOCS box family, to Cullin/RBX1 modules that activate E2 ubiquitination enzymes. NA Belongs to the SKP1 family. Ubiquitin mediated proteolysis;Pathways in cancer;Renal cell carcinoma;Vif-mediated degradation of APOBEC3G;Antigen processing: Ubiquitination & Proteasome degradation;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Formation of RNA Pol II elongation complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;TP53 Regulates Transcription of DNA Repair Genes;Neddylation;Regulation of expression of SLITs and ROBOs PE1 8 +NX_Q15370 Elongin-B 118 13133 4.73 0 Nucleus NA The elongin BC complex seems to be involved as an adapter protein in the proteasomal degradation of target proteins via different E3 ubiquitin ligase complexes, including the von Hippel-Lindau ubiquitination complex CBC(VHL). By binding to BC-box motifs it seems to link target recruitment subunits, like VHL and members of the SOCS box family, to Cullin/RBX1 modules that activate E2 ubiquitination enzymes.;SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex) (PubMed:7638163). In embryonic stem cells, the elongin BC complex is recruited by EPOP to Polycomb group (PcG) target genes in order generate genomic region that display both active and repressive chromatin properties, an important feature of pluripotent stem cells (By similarity). NA NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Pathways in cancer;Renal cell carcinoma;Vif-mediated degradation of APOBEC3G;Antigen processing: Ubiquitination & Proteasome degradation;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Formation of RNA Pol II elongation complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;TP53 Regulates Transcription of DNA Repair Genes;Neddylation;Regulation of expression of SLITs and ROBOs PE1 16 +NX_Q15375 Ephrin type-A receptor 7 998 112097 5.58 1 Cell membrane NA Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Among GPI-anchored ephrin-A ligands, EFNA5 is a cognate/functional ligand for EPHA7 and their interaction regulates brain development modulating cell-cell adhesion and repulsion. Has a repellent activity on axons and is for instance involved in the guidance of corticothalamic axons and in the proper topographic mapping of retinal axons to the colliculus. May also regulate brain development through a caspase(CASP3)-dependent proapoptotic activity. Forward signaling may result in activation of components of the ERK signaling pathway including MAP2K1, MAP2K2, MAPK1 AND MAPK3 which are phosphorylated upon activation of EPHA7. Phosphorylated. Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. Axon guidance;EPH-Ephrin signaling;EPH-ephrin mediated repulsion of cells;EPHA-mediated growth cone collapse PE1 6 +NX_Q15382 GTP-binding protein Rheb 184 20497 5.65 0 Golgi apparatus membrane;Endomembrane system;Endoplasmic reticulum membrane;Cytosol NA Activates the protein kinase activity of mTORC1, and thereby plays a role in the regulation of apoptosis. Stimulates the phosphorylation of S6K1 and EIF4EBP1 through activation of mTORC1 signaling. Has low intrinsic GTPase activity. Farnesylation is important for efficiently activating mTORC1-mediated signaling.;Phosphorylation by MAPKAPK5 impairs GTP-binding and inactivation. Belongs to the small GTPase superfamily. Rheb family. mTOR signaling pathway;Insulin signaling pathway;Macroautophagy;TP53 Regulates Metabolic Genes;Energy dependent regulation of mTOR by LKB1-AMPK;mTOR signalling;mTORC1-mediated signalling;Regulation of PTEN gene transcription PE1 7 +NX_Q15386 Ubiquitin-protein ligase E3C 1083 123923 6.27 0 Nucleoplasm;Mitochondrion;Nucleus;Cell membrane NA E3 ubiquitin-protein ligase that accepts ubiquitin from the E2 ubiquitin-conjugating enzyme UBE2D1 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Can assemble unanchored poly-ubiquitin chains in either 'Lys-29'- or 'Lys-48'-linked polyubiquitin chains. Has preference for 'Lys-48' linkages. It can target itself for ubiquitination in vitro and may promote its own degradation in vivo. NA NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation PE1 7 +NX_Q15388 Mitochondrial import receptor subunit TOM20 homolog 145 16298 8.81 1 Mitochondrion outer membrane;Mitochondrion NA Central component of the receptor complex responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with TOM22 functions as the transit peptide receptor at the surface of the mitochondrion outer membrane and facilitates the movement of preproteins into the TOM40 translocation pore (By similarity). Required for the translocation across the mitochondrial outer membrane of cytochrome P450 monooxygenases. Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. Belongs to the Tom20 family. Mitochondrial protein import;Pink/Parkin Mediated Mitophagy;Ub-specific processing proteases PE1 1 +NX_Q15389 Angiopoietin-1 498 57513 6.3 0 Secreted NA Binds and activates TEK/TIE2 receptor by inducing its dimerization and tyrosine phosphorylation. Plays an important role in the regulation of angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Required for normal angiogenesis and heart development during embryogenesis. After birth, activates or inhibits angiogenesis, depending on the context. Inhibits angiogenesis and promotes vascular stability in quiescent vessels, where endothelial cells have tight contacts. In quiescent vessels, ANGPT1 oligomers recruit TEK to cell-cell contacts, forming complexes with TEK molecules from adjoining cells, and this leads to preferential activation of phosphatidylinositol 3-kinase and the AKT1 signaling cascades. In migrating endothelial cells that lack cell-cell adhesions, ANGT1 recruits TEK to contacts with the extracellular matrix, leading to the formation of focal adhesion complexes, activation of PTK2/FAK and of the downstream kinases MAPK1/ERK2 and MAPK3/ERK1, and ultimately to the stimulation of sprouting angiogenesis. Mediates blood vessel maturation/stability. Implicated in endothelial developmental processes later and distinct from that of VEGF. Appears to play a crucial role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme. Glycosylated. NA Rheumatoid arthritis;RAF/MAP kinase cascade;Tie2 Signaling PE1 8 +NX_Q15390 Mitochondrial fission regulator 1 333 37000 9.1 0 Cytosol;Mitochondrion NA May play a role in mitochondrial aerobic respiration. May also regulate mitochondrial organization and fission (By similarity). NA Belongs to the MTFR1 family. NA PE1 8 +NX_Q15391 P2Y purinoceptor 14 338 38971 9.54 7 Cell membrane NA Receptor for UDP-glucose and other UDP-sugar coupled to G-proteins. Not activated by ATP, ADP, UTP or ATP. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;P2Y receptors PE2 3 +NX_Q15392 Delta(24)-sterol reductase 516 60101 8.42 1 Endoplasmic reticulum membrane;Golgi apparatus membrane Desmosterolosis Catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis (PubMed:11519011, PubMed:21671375, PubMed:25637936, PubMed:22178193). In addition to its cholesterol-synthesizing activity, can protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress (PubMed:11007892, PubMed:22010141). Also protects against amyloid-beta peptide-induced apoptosis (PubMed:11007892). NA Belongs to the FAD-binding oxidoreductase/transferase type 4 family. Steroid biosynthesis; cholesterol biosynthesis.;Steroid biosynthesis;Metabolic pathways;Cholesterol biosynthesis via desmosterol;Cholesterol biosynthesis via lathosterol PE1 1 +NX_Q15393 Splicing factor 3B subunit 3 1217 135577 5.13 0 Nucleoplasm;Nucleus;Nucleolus NA Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex, a constituent of the spliceosome (PubMed:10490618, PubMed:10882114, PubMed:27720643, PubMed:28781166). SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the 'E' complex (PubMed:10882114). Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077). NA Belongs to the RSE1 family. Spliceosome;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway PE1 16 +NX_Q15397 Pumilio homolog 3 648 73584 9.65 0 Nucleoplasm;Nucleolus;Chromosome NA Inhibits the poly(ADP-ribosyl)ation activity of PARP1 and the degradation of PARP1 by CASP3 following genotoxic stress (PubMed:21266351). Binds to double-stranded RNA or DNA without sequence specificity (PubMed:25512524). Involved in development of the eye and of primordial germ cells (By similarity). NA NA NA PE1 9 +NX_Q15398 Disks large-associated protein 5 846 95115 9.11 0 Cytoplasm;Centriolar satellite;Cytosol;Spindle;Nucleus NA Potential cell cycle regulator that may play a role in carcinogenesis of cancer cells. Mitotic phosphoprotein regulated by the ubiquitin-proteasome pathway. Key regulator of adherens junction integrity and differentiation that may be involved in CDH1-mediated adhesion and signaling in epithelial cells. Decreased phosphorylation levels are associated with the differentiation of intestinal epithelial cells.;Ubiquitinated, leading to its degradation. Belongs to the SAPAP family. NOTCH3 Intracellular Domain Regulates Transcription PE1 14 +NX_Q15399 Toll-like receptor 1 786 90291 6.62 1 Golgi apparatus;Phagosome membrane;Membrane raft;Cell membrane NA Participates in the innate immune response to microbial agents. Specifically recognizes diacylated and triacylated lipopeptides. Cooperates with TLR2 to mediate the innate immune response to bacterial lipoproteins or lipopeptides (PubMed:21078852). Forms the activation cluster TLR2:TLR1:CD14 in response to triacylated lipopeptides, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway (PubMed:16880211). Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. NA Belongs to the Toll-like receptor family. Toll-like receptor signaling pathway;Tuberculosis;ER-Phagosome pathway;MyD88:MAL(TIRAP) cascade initiated on plasma membrane;MyD88 deficiency (TLR2/4);IRAK4 deficiency (TLR2/4);Toll Like Receptor TLR1:TLR2 Cascade;Beta defensins;Regulation of TLR by endogenous ligand PE1 4 +NX_Q15404 Ras suppressor protein 1 277 31540 8.57 0 Cytoplasmic vesicle NA Potentially plays a role in the Ras signal transduction pathway. Capable of suppressing v-Ras transformation in vitro. NA NA Regulation of cytoskeletal remodeling and cell spreading by IPP complex components PE1 10 +NX_Q15406 Nuclear receptor subfamily 6 group A member 1 480 54383 5.87 0 Nucleoplasm;Cytosol;Centrosome;Nucleus NA Orphan nuclear receptor. Binds to a response element containing the sequence 5'-TCAAGGTCA-3'. May be involved in the regulation of gene expression in germ cell development during gametogenesis (By similarity). NA Belongs to the nuclear hormone receptor family. NR6 subfamily. POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation;Nuclear Receptor transcription pathway PE1 9 +NX_Q15413 Ryanodine receptor 3 4870 552042 5.47 7 Microsome membrane;Membrane;Sarcoplasmic reticulum;Cytoplasmic vesicle;Sarcoplasmic reticulum membrane NA Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm in muscle and thereby plays a role in triggering muscle contraction. May regulate Ca(2+) release by other calcium channels. Calcium channel that mediates Ca(2+)-induced Ca(2+) release from the endoplasmic reticulum in non-muscle cells. Contributes to cellular calcium ion homeostasis (By similarity). Plays a role in cellular calcium signaling. NA Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR3 subfamily. Calcium signaling pathway;Salivary secretion;Alzheimer's disease;Stimuli-sensing channels;Ion homeostasis PE1 15 +NX_Q15415 RNA-binding motif protein, Y chromosome, family 1 member F/J 496 55728 9.89 0 Nucleus NA RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by participating in pre-mRNA splicing in the testis. NA NA NA PE1 Y +NX_Q15417 Calponin-3 329 36414 5.69 0 Cytoplasm;Cytosol;Nucleus;Cytoskeleton NA Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity. NA Belongs to the calponin family. NA PE1 1 +NX_Q15418 Ribosomal protein S6 kinase alpha-1 735 82723 7.68 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77, regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and differentiation by modulating mTOR signaling and repressing pro-apoptotic function of BAD and DAPK1. In fibroblast, is required for EGF-stimulated phosphorylation of CREB1, which results in the subsequent transcriptional activation of several immediate-early genes. In response to mitogenic stimulation (EGF and PMA), phosphorylates and activates NR4A1/NUR77 and ETV1/ER81 transcription factors and the cofactor CREBBP. Upon insulin-derived signal, acts indirectly on the transcription regulation of several genes by phosphorylating GSK3B at 'Ser-9' and inhibiting its activity. Phosphorylates RPS6 in response to serum or EGF via an mTOR-independent mechanism and promotes translation initiation by facilitating assembly of the pre-initiation complex. In response to insulin, phosphorylates EIF4B, enhancing EIF4B affinity for the EIF3 complex and stimulating cap-dependent translation. Is involved in the mTOR nutrient-sensing pathway by directly phosphorylating TSC2 at 'Ser-1798', which potently inhibits TSC2 ability to suppress mTOR signaling, and mediates phosphorylation of RPTOR, which regulates mTORC1 activity and may promote rapamycin-sensitive signaling independently of the PI3K/AKT pathway. Mediates cell survival by phosphorylating the pro-apoptotic proteins BAD and DAPK1 and suppressing their pro-apoptotic function. Promotes the survival of hepatic stellate cells by phosphorylating CEBPB in response to the hepatotoxin carbon tetrachloride (CCl4). Mediates induction of hepatocyte prolifration by TGFA through phosphorylation of CEBPB (By similarity). Is involved in cell cycle regulation by phosphorylating the CDK inhibitor CDKN1B, which promotes CDKN1B association with 14-3-3 proteins and prevents its translocation to the nucleus and inhibition of G1 progression. Phosphorylates EPHA2 at 'Ser-897', the RPS6KA-EPHA2 signaling pathway controls cell migration (PubMed:26158630). Activated by phosphorylation at Ser-221 by PDPK1. Autophosphorylated on Ser-380, as part of the activation process. May be phosphorylated at Thr-359 and Ser-363 by MAPK1/ERK2 and MAPK3/ERK1.;N-terminal myristoylation results in an activated kinase in the absence of added growth factors.;RPS6KA1 is phosphorylated by MAPK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily. MAPK signaling pathway;Oocyte meiosis;mTOR signaling pathway;Long-term potentiation;Neurotrophin signaling pathway;Progesterone-mediated oocyte maturation;Senescence-Associated Secretory Phenotype (SASP);Recycling pathway of L1;CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling;RSK activation;Gastrin-CREB signalling pathway via PKC and MAPK;ERK/MAPK targets;CREB phosphorylation PE1 1 +NX_Q15424 Scaffold attachment factor B1 915 102642 5.32 0 Nucleoplasm;Nucleus NA Binds to scaffold/matrix attachment region (S/MAR) DNA and forms a molecular assembly point to allow the formation of a 'transcriptosomal' complex (consisting of SR proteins and RNA polymerase II) coupling transcription and RNA processing (By similarity). Can function as an estrogen receptor corepressor and can also bind to the HSP27 promoter and decrease its transcription. When associated with RBMX, binds to and stimulates transcription from the SREBF1 promoter (By similarity). Can inhibit cell proliferation. Sumoylated by PIAS1 with SUMO1 and SUMO2/3, desumoylated by SENP1. Sumoylation is required for transcriptional repressor activity. NA SUMOylation of transcription cofactors PE1 19 +NX_Q15427 Splicing factor 3B subunit 4 424 44386 8.55 0 Nucleus speckle;Nucleus Acrofacial dysostosis 1, Nager type Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643). SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the 'E' complex. SF3B4 has been found in complex 'B' and 'C' as well (PubMed:10882114). Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077). NA Belongs to the SF3B4 family. Spliceosome;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway PE1 1 +NX_Q15428 Splicing factor 3A subunit 2 464 49256 9.65 0 Nucleoplasm;Nucleus NA Involved in pre-mRNA splicing as a component of the splicing factor SF3A complex that contributes to the assembly of the 17S U2 snRNP, and the subsequent assembly of the pre-spliceosome 'E' complex and the pre-catalytic spliceosome 'A' complex (PubMed:10882114, PubMed:11533230). Involved in pre-mRNA splicing as a component of pre-catalytic spliceosome 'B' complexes, including the Bact complex (PubMed:29361316, PubMed:29360106, PubMed:30315277). Interacts directly with the duplex formed by U2 snRNA and the intron (PubMed:29360106). NA Belongs to the SF3A2 family. Spliceosome;mRNA Splicing - Major Pathway PE1 19 +NX_Q15431 Synaptonemal complex protein 1 976 114192 5.78 0 Centromere;Nucleus;Chromosome NA Major component of the transverse filaments of synaptonemal complexes, formed between homologous chromosomes during meiotic prophase. Required for normal assembly of the central element of the synaptonemal complexes. Required for normal centromere pairing during meiosis. Required for normal meiotic chromosome synapsis during oocyte and spermatocyte development and for normal male and female fertility. NA NA Meiotic synapsis PE1 1 +NX_Q15434 RNA-binding motif, single-stranded-interacting protein 2 407 43959 9.15 0 Nucleoplasm;Nucleolus;Cytosol;Nucleus NA NA NA NA NA PE1 12 +NX_Q15435 Protein phosphatase 1 regulatory subunit 7 360 41564 4.84 0 Nucleolus;Nucleus NA Regulatory subunit of protein phosphatase 1. NA Belongs to the SDS22 family. NA PE1 2 +NX_Q15436 Protein transport protein Sec23A 765 86161 6.64 0 Endoplasmic reticulum membrane;Nucleoplasm;COPII-coated vesicle membrane;Cytoplasmic vesicle;Cytosol Craniolenticulosutural dysplasia Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. Required for the translocation of insulin-induced glucose transporter SLC2A4/GLUT4 to the cell membrane (By similarity). NA Belongs to the SEC23/SEC24 family. SEC23 subfamily. Protein processing in endoplasmic reticulum;MHC class II antigen presentation;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;Regulation of cholesterol biosynthesis by SREBP (SREBF);COPII-mediated vesicle transport;Cargo concentration in the ER PE1 14 +NX_Q15437 Protein transport protein Sec23B 767 86479 6.43 0 COPII-coated vesicle membrane;Cytosol;Endoplasmic reticulum membrane;Cytoplasmic vesicle Cowden syndrome 7;Anemia, congenital dyserythropoietic, 2 Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. NA Belongs to the SEC23/SEC24 family. SEC23 subfamily. Protein processing in endoplasmic reticulum PE1 20 +NX_Q15438 Cytohesin-1 398 46413 5.41 0 Cell membrane;Adherens junction;Nucleolus;Nucleoplasm;Tight junction;Cytosol NA Promotes guanine-nucleotide exchange on ARF1, ARF5 and ARF6. Promotes the activation of ARF factors through replacement of GDP with GTP. Plays an important role in membrane trafficking, during junctional remodeling and epithelial polarization, through regulation of ARF6 activity. Ubiquitinated by SCF(FBXW11) E3 ubiquitin-protein ligase complex. Ubiquitination induces proteasomal degradation. NA Intra-Golgi traffic PE1 17 +NX_Q15459 Splicing factor 3A subunit 1 793 88886 5.15 0 Nucleus speckle;Nucleus NA Involved in pre-mRNA splicing as a component of the splicing factor SF3A complex that contributes to the assembly of the 17S U2 snRNP, and the subsequent assembly of the pre-spliceosome 'E' complex and the pre-catalytic spliceosome 'A' complex (PubMed:10882114, PubMed:11533230). Involved in pre-mRNA splicing as a component of pre-catalytic spliceosome 'B' complexes (PubMed:29360106, PubMed:30315277). NA NA Spliceosome;mRNA Splicing - Major Pathway PE1 22 +NX_Q15464 SH2 domain-containing adapter protein B 509 55042 9.1 0 Nucleoplasm;Cytosol;Cytoplasm;Cell membrane NA Adapter protein which regulates several signal transduction cascades by linking activated receptors to downstream signaling components. May play a role in angiogenesis by regulating FGFR1, VEGFR2 and PDGFR signaling. May also play a role in T-cell antigen receptor/TCR signaling, interleukin-2 signaling, apoptosis and neuronal cells differentiation by mediating basic-FGF and NGF-induced signaling cascades. May also regulate IRS1 and IRS2 signaling in insulin-producing cells. Phosphorylated upon PDGFRA, PDGFRB, TCR, IL2 receptor, FGFR1 or VEGFR2 activation.;SHB is phosphorylated by FGFR1 (Phosphotyrosine:PTM-0255) NA VEGFA-VEGFR2 Pathway PE1 9 +NX_Q15465 Sonic hedgehog protein 462 49607 8.1 0 Cell membrane Triphalangeal thumb-polysyndactyly syndrome;Preaxial polydactyly 2;Hypoplasia or aplasia of tibia with polydactyly;Solitary median maxillary central incisor;Laurin-Sandrow syndrome;Holoprosencephaly 3;Microphthalmia, isolated, with coloboma, 5 Sonic hedgehog protein: The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein into two parts (ShhN and ShhC) followed by the covalent attachment of a cholesterol moiety to the C-terminal of the newly generated ShhN (By similarity). Both activities occur in the reticulum endoplasmic (By similarity). Once cleaved, ShhC is degraded in the endoplasmic reticulum (By similarity).;Sonic hedgehog protein N-product: The dually lipidated sonic hedgehog protein N-product (ShhNp) is a morphogen which is essential for a variety of patterning events during development. Induces ventral cell fate in the neural tube and somites (PubMed:24863049). Involved in the patterning of the anterior-posterior axis of the developing limb bud (By similarity). Essential for axon guidance (By similarity). Binds to the patched (PTCH1) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes (PubMed:10753901). In the absence of SHH, PTCH1 represses the constitutive signaling activity of SMO (PubMed:10753901). Sonic hedgehog protein N-product: The lipidated N- and C-terminal peptides of ShhNp can be cleaved (shedding)(PubMed:24522195). The N-terminal palmitoylated peptide is cleaved at the Cardin-Weintraub (CW) motif site (PubMed:24522195). The cleavage reduced the interactions with heparan sulfate. The cleavage is enhanced by SCUBE2 (PubMed:24522195, PubMed:23118222).;Sonic hedgehog protein N-product: N-palmitoylation by HHAT of ShhN is required for sonic hedgehog protein N-product multimerization and full activity (By similarity). It is a prerequisite for the membrane-proximal positioning and the subsequent shedding of this N-terminal peptide (PubMed:24522195).;Sonic hedgehog protein: The C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein and covalent attachment of a cholesterol moiety to the C-terminal of the newly generated N-terminal fragment (ShhN) (By similarity). Cholesterylation is required for the sonic hedgehog protein N-product targeting to lipid rafts and multimerization (PubMed:24522195, PubMed:26875496). ShhN is the active species in both local and long-range signaling, whereas the C-product (ShhC) is degraded in the reticulum endoplasmic (By similarity). Belongs to the hedgehog family. Hedgehog signaling pathway;Pathways in cancer;Basal cell carcinoma;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Hedgehog 'on' state;Class B/2 (Secretin family receptors);Activation of SMO;Release of Hh-Np from the secreting cell;Ligand-receptor interactions;HHAT G278V abrogates palmitoylation of Hh-Np PE1 7 +NX_Q15466 Nuclear receptor subfamily 0 group B member 2 257 28058 8.28 0 Cytoplasm;Nucleus Obesity Transcriptional regulator that acts as a negative regulator of receptor-dependent signaling pathways (By similarity). Specifically inhibits transactivation of the nuclear receptor with which it interacts (By similarity). Inhibits transcriptional activity of NEUROD1 on E-box-containing promoter by interfering with the coactivation function of the p300/CBP-mediated transcription complex for NEUROD1 (PubMed:14752053). Essential component of the liver circadian clock which via its interaction with NR1D1 and RORG regulates NPAS2-mediated hepatic lipid metabolism (By similarity). Regulates the circadian expression of cytochrome P450 (CYP) enzymes (By similarity). Represses: NR5A2 and HNF4A to down-regulate CYP2C38, NFLI3 to up-regulate CYP2A5, BHLHE41/HNF1A axis to up-regulate CYP1A2, CYP2E1 and CYP3A11, and NR1D1 to up-regulate CYP2B10, CYP4A10 and CYP4A14 (By similarity). Arginine methylation by PRMT5 enhances repression activity of metabolic genes in liver in response to bile acid signaling, by increasing interaction with cofactors. Belongs to the nuclear hormone receptor family. NR0 subfamily. Bile secretion;Nuclear Receptor transcription pathway PE1 1 +NX_Q15468 SCL-interrupting locus protein 1287 142955 6.01 0 Cytosol;Cell membrane;Centriole Microcephaly 7, primary, autosomal recessive Immediate-early gene. Plays an important role in embryonic development as well as in cellular growth and proliferation; its long-term silencing affects cell survival and cell cycle distribution as well as decreases CDK1 activity correlated with reduced phosphorylation of CDK1. Plays a role as a positive regulator of the sonic hedgehog pathway, acting downstream of PTCH1 (PubMed:16024801, PubMed:9372240). Plays an important role in the regulation of centriole duplication. Required for the onset of procentriole formation and proper mitotic progression. During procentriole formation, is essential for the correct loading of SASS6 and CENPJ to the base of the procentriole to initiate procentriole assembly (PubMed:22020124). Phosphorylated following the activation of the mitotic checkpoint.;Ubiquitinated. NA NA PE1 1 +NX_Q15475 Homeobox protein SIX1 284 32210 9.24 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Deafness, autosomal dominant, 23;Branchiootic syndrome 3 Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development. Plays an important role in the development of several organs, including kidney, muscle and inner ear. Depending on context, functions as transcriptional repressor or activator. Lacks an activation domain, and requires interaction with EYA family members for transcription activation. Mediates nuclear translocation of EYA1 and EYA2. Binds the 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the MYOG promoter. Regulates the expression of numerous genes, including MYC, CCND1 and EZR. Acts as activator of the IGFBP5 promoter, probably coactivated by EYA2. Repression of precursor cell proliferation in myoblasts is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex. During myogenesis, seems to act together with EYA2 and DACH2 (By similarity). Regulates the expression of CCNA1. Ubiquitinated by the anaphase promoting complex (APC), leading to its proteasomal degradation.;Phosphorylated during interphase; becomes hyperphosphorylated during mitosis. Hyperphosphorylation impairs binding to promoter elements. Belongs to the SIX/Sine oculis homeobox family. NA PE1 14 +NX_Q15477 Helicase SKI2W 1246 137755 5.72 0 Cytoplasm;Nucleoplasm;Nucleus Trichohepatoenteric syndrome 2 Helicase; has ATPase activity. Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C). NA Belongs to the helicase family. SKI2 subfamily. RNA degradation;Association of TriC/CCT with target proteins during biosynthesis;mRNA decay by 3' to 5' exoribonuclease PE1 6 +NX_Q15485 Ficolin-2 313 34001 6.31 0 Secreted NA May function in innate immunity through activation of the lectin complement pathway. Calcium-dependent and GlcNAc-binding lectin. Enhances phagocytosis of S.typhimurium by neutrophils, suggesting an opsonic effect via the collagen region. NA Belongs to the ficolin lectin family. Initial triggering of complement;Lectin pathway of complement activation;Ficolins bind to repetitive carbohydrate structures on the target cell surface PE1 9 +NX_Q15486 Putative inactive beta-glucuronidase-like protein SMA3 140 15381 5.71 0 NA NA NA NA Belongs to the glycosyl hydrolase 2 family. NA PE5 5 +NX_Q15493 Regucalcin 299 33253 5.89 0 Nucleoplasm;Cytoplasm NA Gluconolactonase with low activity towards other sugar lactones, including gulonolactone and galactonolactone. Can also hydrolyze diisopropyl phosphorofluoridate and phenylacetate (in vitro). Calcium-binding protein. Modulates Ca(2+) signaling, and Ca(2+)-dependent cellular processes and enzyme activities (By similarity). NA Belongs to the SMP-30/CGR1 family. Pentose phosphate pathway;Ascorbate and aldarate metabolism;Metabolic pathways PE1 X +NX_Q15506 Sperm surface protein Sp17 151 17406 4.76 0 Membrane;Cytoplasmic vesicle NA Sperm surface zona pellucida binding protein. Helps to bind spermatozoa to the zona pellucida with high affinity. Might function in binding zona pellucida and carbohydrates (By similarity). NA NA NA PE1 11 +NX_Q15513 Protein SPHAR 63 7515 8.46 0 NA NA NA NA NA NA PE2 1 +NX_Q15517 Corneodesmosin 529 51522 8.69 0 Secreted Peeling skin syndrome 1;Hypotrichosis 2 Important for the epidermal barrier integrity. NA NA Formation of the cornified envelope PE1 6 +NX_Q15526 Surfeit locus protein 1 300 33331 9.64 2 Mitochondrion inner membrane Charcot-Marie-Tooth disease 4K;Leigh syndrome Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. NA Belongs to the SURF1 family. Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 9 +NX_Q15527 Surfeit locus protein 2 256 29648 9.33 0 Nucleoplasm;Nucleolus NA NA NA Belongs to the SURF2 family. NA PE1 9 +NX_Q15528 Mediator of RNA polymerase II transcription subunit 22 200 22221 4.56 0 Nucleoplasm;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 22 family. PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 9 +NX_Q15532 Protein SSXT 418 45929 5.95 0 Nucleoplasm;Cytosol;Nucleus NA Function in nuclear receptor coactivation.;Function in general transcriptional coactivation. Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:29374058).;Appears to function synergistically with RBM14 as a transcriptional coactivator. NA Belongs to the SS18 family. NA PE1 18 +NX_Q15542 Transcription initiation factor TFIID subunit 5 800 86830 5.4 0 Nucleoplasm;Nucleus NA TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TAFs components-TIIFD are essential for mediating regulation of RNA polymerase transcription. TAF5/TAFII100 interacts strongly with the histone H4-related TAF6/TAFII80 and the histone H3-related TAF9/TAFII31, as well as a stable complex comprised of both TAF5/TAFII80 and TAF6/TAFII31. Apparently weaker interactions of TAF5/TAFII100 with TBP, TAF1/TAFII250, TAF11/TAFII28, and TAF12/TAFII20, but not TAF7/TAFII55, also have been observed. NA Belongs to the WD repeat TAF5 family. Basal transcription factors;Herpes simplex infection;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA polymerase II transcribes snRNA genes;Regulation of TP53 Activity through Phosphorylation PE1 10 +NX_Q15543 Transcription initiation factor TFIID subunit 13 124 14287 4.72 0 Nucleoplasm;Nucleus;Nucleolus Mental retardation, autosomal recessive 60 Component of the DNA-binding general RNA polymerase II transcription factor IID complex (TFIID). TFIID plays a critical role in the regulation of gene transcription in eukaryotic cells. NA Belongs to the TAF13 family. Basal transcription factors;Herpes simplex infection;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA polymerase II transcribes snRNA genes;Regulation of TP53 Activity through Phosphorylation PE1 1 +NX_Q15544 Transcription initiation factor TFIID subunit 11 211 23307 4.78 0 Golgi apparatus;Nucleoplasm;Nucleus NA Core TAFII present in both of the previously described TFIID species which either lack or contain TAFII30 (TFIID alpha and TFIID beta respectively). NA Belongs to the TAF11 family. Basal transcription factors;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA polymerase II transcribes snRNA genes;Regulation of TP53 Activity through Phosphorylation PE1 6 +NX_Q15545 Transcription initiation factor TFIID subunit 7 349 40259 5.07 0 Golgi apparatus;Nucleoplasm;Nucleus NA Functions as a component of the DNA-binding general transcription factor complex TFIID, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Present in both of the previously described TFIID species which either lack or contain TAFII30 (TFIID alpha and TFIID beta respectively). Phosphorylated by CIITA. Phosphorylation at Ser-264 by TAF1 in early G1 phase disrupts binding to TAF1. Belongs to the TAF7 family. Basal transcription factors;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;Regulation of TP53 Activity through Phosphorylation PE1 5 +NX_Q15546 Monocyte to macrophage differentiation factor 238 27667 9.09 7 Cytoplasmic vesicle;Lysosome membrane;Late endosome membrane NA Involved in the dynamics of lysosomal membranes associated with microglial activation following brain lesion. NA Belongs to the ADIPOR family. NA PE2 17 +NX_Q15554 Telomeric repeat-binding factor 2 542 59594 9.38 0 Nucleoplasm;Telomere;Nucleus NA Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and plays a central role in telomere maintenance and protection against end-to-end fusion of chromosomes. In addition to its telomeric DNA-binding role, required to recruit a number of factors and enzymes required for telomere protection, including the shelterin complex, TERF2IP/RAP1 and DCLRE1B/Apollo. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5'-TTAGGG-3' repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Together with DCLRE1B/Apollo, plays a key role in telomeric loop (T loop) formation by generating 3' single-stranded overhang at the leading end telomeres: T loops have been proposed to protect chromosome ends from degradation and repair. Required both to recruit DCLRE1B/Apollo to telomeres and activate the exonuclease activity of DCLRE1B/Apollo. Preferentially binds to positive supercoiled DNA. Together with DCLRE1B/Apollo, required to control the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere replication during fork passage and prevent aberrant telomere topology. Recruits TERF2IP/RAP1 to telomeres, thereby participating in to repressing homology-directed repair (HDR), which can affect telomere length. Phosphorylated upon DNA damage, most probably by ATM. Phosphorylated TERF2 is not bound to telomeric DNA, and rapidly localizes to damage sites.;Methylated by PRMT1 at multiple arginines within the N-terminal Arg-rich region. Methylation may control association with telomeres. NA Meiotic synapsis;Packaging Of Telomere Ends;DNA Damage/Telomere Stress Induced Senescence;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine PE1 16 +NX_Q15555 Microtubule-associated protein RP/EB family member 2 327 37031 5.36 0 Nucleoplasm;Cytoskeleton Skin creases, congenital symmetric circumferential, 2 May be involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. May play a role in cell migration (By similarity). NA Belongs to the MAPRE family. NA PE1 18 +NX_Q15560 Transcription elongation factor A protein 2 299 33601 9.32 0 Nucleoplasm;Centrosome;Nucleus NA Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3'-terminus. NA Belongs to the TFS-II family. NA PE1 20 +NX_Q15561 Transcriptional enhancer factor TEF-3 434 48329 6.88 0 Nucleoplasm;Nucleus NA Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell proliferation, migration and epithelial mesenchymal transition (EMT) induction. Binds specifically and non-cooperatively to the Sph and GT-IIC 'enhansons' (5'-GTGGAATGT-3') and activates transcription. Binds to the M-CAT motif. NA NA YAP1- and WWTR1 (TAZ)-stimulated gene expression;RUNX3 regulates YAP1-mediated transcription PE1 12 +NX_Q15562 Transcriptional enhancer factor TEF-4 447 49243 6.06 0 Nucleoplasm;Nucleus NA Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell proliferation, migration and epithelial mesenchymal transition (EMT) induction. Binds to the SPH and GT-IIC 'enhansons' (5'-GTGGAATGT-3'). May be involved in the gene regulation of neural development. Binds to the M-CAT motif. NA NA YAP1- and WWTR1 (TAZ)-stimulated gene expression;RUNX3 regulates YAP1-mediated transcription PE1 19 +NX_Q15569 Dual specificity testis-specific protein kinase 1 626 67684 8.44 0 NA NA Dual specificity protein kinase activity catalyzing autophosphorylation and phosphorylation of exogenous substrates on both serine/threonine and tyrosine residues. Probably plays a central role at and after the meiotic phase of spermatogenesis (By similarity). Autophosphorylated on serine and tyrosine residues. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Regulation of cytoskeletal remodeling and cell spreading by IPP complex components PE1 9 +NX_Q15572 TATA box-binding protein-associated factor RNA polymerase I subunit C 869 95213 8.91 0 Nucleoplasm;Nucleus;Nucleolus NA Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits. Recruits RNA polymerase I to the rRNA gene promoter via interaction with RRN3. NA NA NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;SIRT1 negatively regulates rRNA expression;B-WICH complex positively regulates rRNA expression PE1 16 +NX_Q15573 TATA box-binding protein-associated factor RNA polymerase I subunit A 450 52676 9.15 0 Nucleoplasm;Nucleus NA Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits. NA NA NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;SIRT1 negatively regulates rRNA expression;B-WICH complex positively regulates rRNA expression PE1 1 +NX_Q15582 Transforming growth factor-beta-induced protein ig-h3 683 74681 7.62 0 Extracellular matrix;Secreted Corneal dystrophy, Groenouw type 1;Corneal dystrophy, epithelial basement membrane;Corneal dystrophy, Avellino type;Corneal dystrophy, lattice type 3A;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type;Corneal dystrophy, lattice type 1 Plays a role in cell adhesion (PubMed:8024701). May play a role in cell-collagen interactions (By similarity). The EMI domain contains 2 expected intradomain disulfide bridges (Cys-49-Cys85 and Cys-84-Cys-97) and one unusual interdomain disulfide bridge to the second FAS1 domain (Cys-74-Cys-339). This arrangement violates the predicted disulfide bridge pattern of an EMI domain.;Gamma-carboxylation is controversial. Gamma-carboxyglutamated; gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation; these residues may be required for binding to calcium (PubMed:18450759). According to a more recent report, does not contain vitamin K-dependent gamma-carboxyglutamate residues (PubMed:26273833). NA Amyloid fiber formation PE1 5 +NX_Q15583 Homeobox protein TGIF1 401 43013 9.17 0 Nucleoplasm;Nucleus Holoprosencephaly 4 Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear signals during development and in the adult, as illustrated by the down-modulation of the RXR alpha activities. NA Belongs to the TALE/TGIF homeobox family. SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Downregulation of SMAD2/3:SMAD4 transcriptional activity PE1 18 +NX_Q15596 Nuclear receptor coactivator 2 1464 159157 6.19 0 Nucleoplasm;Nucleus NA Transcriptional coactivator for steroid receptors and nuclear receptors. Coactivator of the steroid binding domain (AF-2) but not of the modulating N-terminal domain (AF-1). Required with NCOA1 to control energy balance between white and brown adipose tissues. Critical regulator of glucose metabolism regulation, acts as RORA coactivator to specifically modulate G6PC expression. Involved in the positive regulation of the transcriptional activity of the glucocorticoid receptor NR3C1 by sumoylation enhancer RWDD3. Positively regulates the circadian clock by acting as a transcriptional coactivator for the CLOCK-ARNTL/BMAL1 heterodimer (By similarity). NA Belongs to the SRC/p160 nuclear receptor coactivator family. HATs acetylate histones;PPARA activates gene expression;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 27-hydroxycholesterol;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;RORA activates gene expression;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;Endogenous sterols;Activation of gene expression by SREBF (SREBP);Transcriptional regulation of white adipocyte differentiation;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);Recycling of bile acids and salts;Synthesis of bile acids and bile salts;Estrogen-dependent gene expression;SUMOylation of transcription cofactors PE1 8 +NX_Q15599 Na(+)/H(+) exchange regulatory cofactor NHE-RF2 337 37414 7.8 0 Apical cell membrane;Endomembrane system;Nucleus;Cell membrane NA Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3 (PubMed:18829453). May also act as scaffold protein in the nucleus. NA NA Aldosterone-regulated sodium reabsorption PE1 16 +NX_Q155Q3 Dixin 683 77478 5.85 0 Stress fiber;Cytoplasm;Cytosol;Focal adhesion NA Positive effector of the Wnt signaling pathway; activates WNT3A signaling via DVL2. Regulates JNK activation by AXIN1 and DVL2. Polyubiquitinated, leading to its proteasomal degradation. WNT3A signaling increases DIXDC1 protein levels by inhibiting its ubiquitination and subsequent degradation.;Phosphorylated on tyrosine and serine residues. Belongs to the DIXDC1 family. NA PE1 11 +NX_Q15612 Olfactory receptor 1Q1 314 35598 9.12 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q15615 Olfactory receptor 4D1 310 35240 8.74 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 17 +NX_Q15617 Olfactory receptor 8G1 311 34904 8.37 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q15619 Olfactory receptor 1C1 314 35042 8.18 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q15620 Olfactory receptor 8B8 311 34482 8.28 7 Cell membrane NA Odorant receptor (Potential). May be involved in taste perception. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q15622 Olfactory receptor 7A5 319 35579 8.33 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 19 +NX_Q15628 Tumor necrosis factor receptor type 1-associated DEATH domain protein 312 34247 5.94 0 Cytoplasm;Cytosol;Nucleus;Cytoskeleton NA The nuclear form acts as a tumor suppressor by preventing ubiquitination and degradation of isoform p19ARF/ARF of CDKN2A by TRIP12: acts by interacting with TRIP12, leading to disrupt interaction between TRIP12 and isoform p19ARF/ARF of CDKN2A (By similarity). Adapter molecule for TNFRSF1A/TNFR1 that specifically associates with the cytoplasmic domain of activated TNFRSF1A/TNFR1 mediating its interaction with FADD. Overexpression of TRADD leads to two major TNF-induced responses, apoptosis and activation of NF-kappa-B. NA NA Apoptosis;RIG-I-like receptor signaling pathway;Adipocytokine signaling pathway;Tuberculosis;Hepatitis C;TNFR1-induced proapoptotic signaling;Caspase activation via Death Receptors in the presence of ligand;Regulation by c-FLIP;RIPK1-mediated regulated necrosis;CASP8 activity is inhibited;Dimerization of procaspase-8;TNF signaling;Regulation of necroptotic cell death;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway PE1 16 +NX_Q15629 Translocating chain-associated membrane protein 1 374 43072 9.65 8 Endoplasmic reticulum membrane NA Stimulatory or required for the translocation of secretory proteins across the ER membrane. NA Belongs to the TRAM family. Protein processing in endoplasmic reticulum;SRP-dependent cotranslational protein targeting to membrane PE1 8 +NX_Q15631 Translin 228 26183 6.01 0 Endoplasmic reticulum;Nucleoplasm;Cytoplasm;Nucleus NA Exhibits both single-stranded and double-stranded endoribonuclease activity. May act as an activator of RNA-induced silencing complex (RISC) by facilitating endonucleolytic cleavage of the siRNA passenger strand.;DNA-binding protein that specifically recognizes consensus sequences at the breakpoint junctions in chromosomal translocations, mostly involving immunoglobulin (Ig)/T-cell receptor gene segments. Seems to recognize single-stranded DNA ends generated by staggered breaks occurring at recombination hot spots. NA Belongs to the translin family. Small interfering RNA (siRNA) biogenesis PE1 2 +NX_Q15633 RISC-loading complex subunit TARBP2 366 39039 6.11 0 Cytoplasm;Nucleoplasm;Perinuclear region;Nucleus NA (Microbial infection) Binds to the HIV-1 TAR RNA which is located in the long terminal repeat (LTR) of HIV-1, and stimulates translation of TAR-containing RNAs (PubMed:2011739, PubMed:11438532, PubMed:12475984). This is achieved in part at least by binding to and inhibiting EIF2AK2/PKR, thereby reducing phosphorylation and inhibition of EIF2S1/eIF-2-alpha (PubMed:11438532). May also promote translation of TAR-containing RNAs independently of EIF2AK2/PKR (PubMed:12475984). Mediates recruitment of FTSJ3 methyltransferase to HIV-1 RNA, leading to 2'-O-methylation of the viral genome, allowing HIV-1 to escape the innate immune system (PubMed:30626973).;Required for formation of the RNA induced silencing complex (RISC). Component of the RISC loading complex (RLC), also known as the micro-RNA (miRNA) loading complex (miRLC), which is composed of DICER1, AGO2 and TARBP2. Within the RLC/miRLC, DICER1 and TARBP2 are required to process precursor miRNAs (pre-miRNAs) to mature miRNAs and then load them onto AGO2. AGO2 bound to the mature miRNA constitutes the minimal RISC and may subsequently dissociate from DICER1 and TARBP2. May also play a role in the production of short interfering RNAs (siRNAs) from double-stranded RNA (dsRNA) by DICER1. NA Belongs to the TARBP2 family. MicroRNA (miRNA) biogenesis;Small interfering RNA (siRNA) biogenesis PE1 12 +NX_Q15637 Splicing factor 1 639 68330 9.07 0 Nucleoplasm;Nucleus NA Necessary for the ATP-dependent first step of spliceosome assembly. Binds to the intron branch point sequence (BPS) 5'-UACUAAC-3' of the pre-mRNA. May act as transcription repressor. Is phosphorylated on Ser-463.;Phosphorylation on Ser-20 interferes with U2AF2 binding and spliceosome assembly. Belongs to the BBP/SF1 family. mRNA Splicing - Major Pathway PE1 11 +NX_Q15642 Cdc42-interacting protein 4 601 68352 5.55 0 Golgi apparatus;Cell cortex;Cell membrane;Nucleoplasm;Phagocytic cup;Lysosome;Cytoplasmic vesicle;Perinuclear region;Cytoskeleton NA Required for translocation of GLUT4 to the plasma membrane in response to insulin signaling (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by recruiting WASL/N-WASP which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Required for the formation of podosomes, actin-rich adhesion structures specific to monocyte-derived cells. May be required for the lysosomal retention of FASLG/FASL. Tyrosine phosphorylated. Also phosphorylated by PKA. Belongs to the FNBP1 family. Insulin signaling pathway;Rho GTPase cycle;Clathrin-mediated endocytosis PE1 19 +NX_Q15643 Thyroid receptor-interacting protein 11 1979 227586 5.18 0 Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment membrane;cis-Golgi network membrane;Nucleoplasm;Cytoskeleton Odontochondrodysplasia;Achondrogenesis 1A Is a membrane tether required for vesicle tethering to Golgi. Has an essential role in the maintenance of Golgi structure and function (PubMed:25473115, PubMed:30728324). It is required for efficient anterograde and retrograde trafficking in the early secretory pathway, functioning at both the ER-to-Golgi intermediate compartment (ERGIC) and Golgi complex (PubMed:25717001). Binds the ligand binding domain of the thyroid receptor (THRB) in the presence of triiodothyronine and enhances THRB-modulated transcription. NA NA Intraflagellar transport;Intra-Golgi traffic PE1 14 +NX_Q15645 Pachytene checkpoint protein 2 homolog 432 48551 5.73 0 Nucleoplasm Mosaic variegated aneuploidy syndrome 3 Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis by influencing crossover distribution along the chromosomes affecting both crossovers and non-crossovers pathways. Also required for development of higher-order chromosome structures and is needed for synaptonemal-complex formation. In males, required for efficient synapsis of the sex chromosomes and for sex body formation. Promotes early steps of the DNA double-strand breaks (DSBs) repair process upstream of the assembly of RAD51 complexes. Required for depletion of HORMAD1 and HORMAD2 from synapsed chromosomes (By similarity). Plays a role in mitotic spindle assembly checkpoint (SAC) activation (PubMed:28553959). NA Belongs to the AAA ATPase family. PCH2 subfamily. NA PE1 5 +NX_Q15646 2'-5'-oligoadenylate synthase-like protein 514 59226 7.96 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleolus NA Does not have 2'-5'-OAS activity, but can bind double-stranded RNA. Displays antiviral activity against encephalomyocarditis virus (EMCV) and hepatitis C virus (HCV) via an alternative antiviral pathway independent of RNase L. NA Belongs to the 2-5A synthase family. Interferon gamma signaling;Interferon alpha/beta signaling;OAS antiviral response PE1 12 +NX_Q15648 Mediator of RNA polymerase II transcription subunit 1 1581 168478 8.88 0 Nucleoplasm;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (PubMed:10406464, PubMed:11867769, PubMed:12037571, PubMed:12218053, PubMed:12556447, PubMed:14636573, PubMed:15340084, PubMed:15471764, PubMed:15989967, PubMed:16574658, PubMed:9653119). Acts as a coactivator for GATA1-mediated transcriptional activation during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781). Phosphorylated by MAPK1 or MAPK3 during G2/M phase which may enhance protein stability and promote entry into the nucleolus.;MED1 is phosphorylated by MAPK3 Belongs to the Mediator complex subunit 1 family. Generic Transcription Pathway;PPARA activates gene expression;RORA activates gene expression;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;Nuclear Receptor transcription pathway;Activation of gene expression by SREBF (SREBP);Transcriptional regulation of white adipocyte differentiation;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);Estrogen-dependent gene expression PE1 17 +NX_Q15649 Zinc finger HIT domain-containing protein 3 155 17607 5.51 0 Cytoplasm;Mitochondrion;Nucleus PEHO syndrome NA NA NA NA PE1 17 +NX_Q15650 Activating signal cointegrator 1 581 66146 8.05 0 Nucleoplasm;Cytosol;Centrosome;Nucleus Muscular dystrophy, congenital, Davignon-Chauveau type;Spinal muscular atrophy with congenital bone fractures 1 Transcription coactivator which associates with nuclear receptors, transcriptional coactivators including EP300, CREBBP and NCOA1, and basal transcription factors like TBP and TFIIA to facilitate nuclear receptors-mediated transcription. May thereby play an important role in establishing distinct coactivator complexes under different cellular conditions. Plays a role in thyroid hormone receptor and estrogen receptor transactivation (PubMed:10454579, PubMed:25219498). Also involved in androgen receptor transactivation (By similarity). Plays a pivotal role in the transactivation of NF-kappa-B, SRF and AP1. Acts as a mediator of transrepression between nuclear receptor and either AP1 or NF-kappa-B (PubMed:12077347). May play a role in the development of neuromuscular junction (PubMed:26924529). May play a role in late myogenic differentiation (By similarity). Phosphorylated by NEK6.;Polyufmylated by the UFM1-conjugating system composed of the enzymes UBA5, UFC1 and UFL1. Deufmylated by the protease UFSP2. Ufmylation of TRIP4 is promoted by ligand-bound nuclear receptors that compete with UFSP2 for interaction with TRIP4. Nuclear receptors-induced ufmylation promotes the recruitment of additional transcriptional coactivators like EP300 and NCOA1 and therefore the assembly of a coactivator complex facilitating nuclear receptor-mediated transcription.;TRIP4 is phosphorylated by NEK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA NA PE1 15 +NX_Q15651 High mobility group nucleosome-binding domain-containing protein 3 99 10666 9.66 0 Nucleoplasm;Cytosol;Nucleus NA Binds to nucleosomes, regulating chromatin structure and consequently, chromatin-dependent processes such as transcription, DNA replication and DNA repair. Affects both insulin and glucagon levels and modulates the expression of pancreatic genes involved in insulin secretion. Regulates the expression of the glucose transporter SLC2A2 by binding specifically to its promoter region and recruiting PDX1 and additional transcription factors. Regulates the expression of SLC6A9, a glycine transporter which regulates the glycine concentration in synaptic junctions in the central nervous system, by binding to its transcription start site. May play a role in ocular development and astrocyte function (By similarity). NA Belongs to the HMGN family. NA PE1 6 +NX_Q15652 Probable JmjC domain-containing histone demethylation protein 2C 2540 284525 7.95 0 Nucleoplasm;Cytosol;Nucleus NA Probable histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May be involved in hormone-dependent transcriptional activation, by participating in recruitment to androgen-receptor target genes (By similarity). NA Belongs to the JHDM2 histone demethylase family. Factors involved in megakaryocyte development and platelet production PE1 10 +NX_Q15653 NF-kappa-B inhibitor beta 356 37771 4.7 0 Cytoplasm;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. However, the unphosphorylated form resynthesized after cell stimulation is able to bind NF-kappa-B allowing its transport to the nucleus and protecting it to further NFKBIA-dependent inactivation. Association with inhibitor kappa B-interacting NKIRAS1 and NKIRAS2 prevent its phosphorylation rendering it more resistant to degradation, explaining its slower degradation. Phosphorylated by RPS6KA1; followed by degradation. Interaction with NKIRAS1 and NKIRAS2 probably prevents phosphorylation.;NFKBIB is phosphorylated by CHUK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the NF-kappa-B inhibitor family. Chemokine signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;T cell receptor signaling pathway;B cell receptor signaling pathway;Neurotrophin signaling pathway;Adipocytokine signaling pathway;Shigellosis;Leishmaniasis;Toxoplasmosis;Measles;Influenza A;Herpes simplex infection;Activation of NF-kappaB in B cells;RIP-mediated NFkB activation via ZBP1;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated NF-kB activation PE1 19 +NX_Q15654 Thyroid receptor-interacting protein 6 476 50288 7.19 0 Cytoplasm;Cell membrane;Focal adhesion;Cytosol;Nucleus;Cytoskeleton NA Relays signals from the cell surface to the nucleus to weaken adherens junction and promote actin cytoskeleton reorganization and cell invasiveness. Involved in lysophosphatidic acid-induced cell adhesion and migration. Acts as a transcriptional coactivator for NF-kappa-B and JUN, and mediates the transrepression of these transcription factors induced by glucocorticoid receptor. Phosphorylation at Tyr-55 by SRC is required for enhancement of lysophosphatidic acid-induced cell migration. Tyr-55 is dephosphorylated by PTPN13. Belongs to the zyxin/ajuba family. NOD-like receptor signaling pathway PE1 7 +NX_Q15661 Tryptase alpha/beta-1 275 30515 6.62 0 Secreted NA Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type. May play a role in innate immunity.;Cleaves large substrates, such as fibronectin, more efficiently than isoform 1, but seems less efficient toward small substrates (PubMed:18854315). NA Belongs to the peptidase S1 family. Tryptase subfamily. Activation of Matrix Metalloproteinases PE1 16 +NX_Q15669 Rho-related GTP-binding protein RhoH 191 21331 9.17 0 Golgi apparatus;Cytoplasm;Cell membrane;Cytoplasmic vesicle Epidermodysplasia verruciformis 4 Negative regulator of hematopoietic progenitor cell proliferation, survival and migration. Critical regulator of thymocyte development and T-cell antigen receptor (TCR) signaling by mediating recruitment and activation of ZAP70. Required for phosphorylation of CD3Z, membrane translocation of ZAP70 and subsequent activation of the ZAP70-mediated pathways. Essential for efficient beta-selection and positive selection by promoting the ZAP70-dependent phosphorylation of the LAT signalosome during pre-TCR and TCR signaling. Crucial for thymocyte maturation during DN3 to DN4 transition and during positive selection. Plays critical roles in mast cell function by facilitating phosphorylation of SYK in Fc epsilon RI-mediated signal transduction. Essential for the phosphorylation of LAT, LCP2, PLCG1 and PLCG2 and for Ca(2+) mobilization in mast cells (By similarity). Binds GTP but lacks intrinsic GTPase activity and is resistant to Rho-specific GTPase-activating proteins. Inhibits the activation of NF-kappa-B by TNF and IKKB and the activation of CRK/p38 by TNF. Inhibits activities of RAC1, RHOA and CDC42. Negatively regulates leukotriene production in neutrophils. Phosphorylated on tyrosine by LCK. Phosphorylated by FYN. Phosphorylation enhances the interactions with ZAP70 and SYK and is critical for its function in thymocyte development (By similarity). Belongs to the small GTPase superfamily. Rho family. Leukocyte transendothelial migration;Rho GTPase cycle PE1 4 +NX_Q15672 Twist-related protein 1 202 20954 9.48 0 Nucleus Saethre-Chotzen syndrome;Craniosynostosis 1;Robinow-Sorauf syndrome;Sweeney-Cox syndrome Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression. Heterodimerization is also required for osteoblast differentiation. Represses the activity of the circadian transcriptional activator: NPAS2-ARNTL/BMAL1 heterodimer (By similarity). NA NA Interleukin-4 and Interleukin-13 signaling;Regulation of RUNX2 expression and activity;Transcriptional regulation by RUNX2 PE1 7 +NX_Q15678 Tyrosine-protein phosphatase non-receptor type 14 1187 135261 8.53 0 Nucleoplasm;Cytoplasm;Nucleus;Cytoskeleton Choanal atresia and lymphedema Protein tyrosine phosphatase which may play a role in the regulation of lymphangiogenesis, cell-cell adhesion, cell-matrix adhesion, cell migration, cell growth and also regulates TGF-beta gene expression, thereby modulating epithelial-mesenchymal transition. Mediates beta-catenin dephosphorylation at adhesion junctions. Acts as a negative regulator of the oncogenic property of YAP, a downstream target of the hippo pathway, in a cell density-dependent manner. May function as a tumor suppressor. Ubiquitinated by the ECS (Elongin BC-CUL2/5-SOCS-box protein)/LRR1 E3 ligase complex and subsequently targeted to proteasomal degradation. Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily. Interleukin-37 signaling PE1 1 +NX_Q15691 Microtubule-associated protein RP/EB family member 1 268 29999 5.02 0 Golgi apparatus;Centriolar satellite;Centrosome;Cytosol;Cytoskeleton NA Plus-end tracking protein (+TIP) that binds to the plus-end of microtubules and regulates the dynamics of the microtubule cytoskeleton (PubMed:12388762, PubMed:16109370, PubMed:19632184, PubMed:21646404, PubMed:28726242, PubMed:28814570). Promotes cytoplasmic microtubule nucleation and elongation (PubMed:12388762, PubMed:16109370, PubMed:19632184, PubMed:21646404, PubMed:28726242, PubMed:28814570). May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes (PubMed:12388762). Also acts as a regulator of minus-end microtubule organization: interacts with the complex formed by AKAP9 and PDE4DIP, leading to recruit CAMSAP2 to the Golgi apparatus, thereby tethering non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:28814570). Promotes elongation of CAMSAP2-decorated microtubule stretches on the minus-end of microtubules (PubMed:28814570). Acts as a regulator of autophagosome transport via interaction with CAMSAP2 (PubMed:28726242). May play a role in cell migration (By similarity). NA Belongs to the MAPRE family. Separation of Sister Chromatids;Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Recruitment of NuMA to mitotic centrosomes;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;The role of GTSE1 in G2/M progression after G2 checkpoint;AURKA Activation by TPX2 PE1 20 +NX_Q15695 Putative U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1 479 57643 9.44 0 Nucleus NA NA NA NA NA PE5 5 +NX_Q15696 U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2 482 58045 9.75 0 Nucleus NA Pre-mRNA-binding protein required for splicing of both U2- and U12-type introns. Selectively interacts with the 3'-splice site of U2- and U12-type pre-mRNAs and promotes different steps in U2 and U12 intron splicing. Recruited to U12 pre-mRNAs in an ATP-dependent manner and is required for assembly of the prespliceosome, a precursor to other spliceosomal complexes. For U2-type introns, it is selectively and specifically required for the second step of splicing. Phosphorylated in the RS domain by SRPK1.;ZRSR2 is phosphorylated by SRPK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA mRNA Splicing - Minor Pathway PE1 X +NX_Q15697 Zinc finger protein 174 407 46455 9.66 0 Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA Transcriptional repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 16 +NX_Q15699 ALX homeobox protein 1 326 36961 8.8 0 Golgi apparatus;Nucleoplasm;Nucleus Frontonasal dysplasia 3 Sequence-specific DNA-binding transcription factor that binds palindromic sequences within promoters and may activate or repress the transcription of a subset of genes (PubMed:9753625, PubMed:8756334). Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures. Early on in development, it plays a role in forebrain mesenchyme survival (PubMed:20451171). May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1 (PubMed:23288509). Acetylated at Lys-131 by EP300; increases interaction with EP300 and stimulates ALX1 transcriptional activity. Belongs to the paired homeobox family. NA PE1 12 +NX_Q156A1 Ataxin-8 80 10272 5.28 0 Nucleus Spinocerebellar ataxia 8 NA NA NA NA PE1 13 +NX_Q15700 Disks large homolog 2 870 97552 6.03 0 Cell membrane;Perikaryon;Membrane;Postsynaptic density;Synapse;Cytoplasmic vesicle;Axon NA Required for perception of chronic pain through NMDA receptor signaling. Regulates surface expression of NMDA receptors in dorsal horn neurons of the spinal cord. Interacts with the cytoplasmic tail of NMDA receptor subunits as well as inward rectifying potassium channels. Involved in regulation of synaptic stability at cholinergic synapses. Part of the postsynaptic protein scaffold of excitatory synapses (By similarity). Palmitoylation of isoform 1 is not required for targeting to postsynaptic density. Belongs to the MAGUK family. RAF/MAP kinase cascade;Unblocking of NMDA receptors, glutamate binding and activation;Ras activation upon Ca2+ influx through NMDA receptor;Neurexins and neuroligins;Assembly and cell surface presentation of NMDA receptors;Negative regulation of NMDA receptor-mediated neuronal transmission;Long-term potentiation PE1 11 +NX_Q15714 TSC22 domain family protein 1 1073 109677 5.38 0 Cytoplasm;Nucleoplasm;Nucleus NA Transcriptional repressor. Acts on the C-type natriuretic peptide (CNP) promoter. NA Belongs to the TSC-22/Dip/Bun family. NA PE1 13 +NX_Q15717 ELAV-like protein 1 326 36092 9.23 0 Cytoplasm;Stress granule;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA RNA-binding protein that binds to the 3'-UTR region of mRNAs and increases their stability (PubMed:14517288, PubMed:18285462, PubMed:31358969). Involved in embryonic stem cells (ESCs) differentiation: preferentially binds mRNAs that are not methylated by N6-methyladenosine (m6A), stabilizing them, promoting ESCs differentiation (By similarity). Binds to poly-U elements and AU-rich elements (AREs) in the 3'-UTR of target mRNAs (PubMed:8626503, PubMed:17632515, PubMed:18285462, PubMed:23519412, PubMed:14731398). Binds avidly to the AU-rich element in FOS and IL3/interleukin-3 mRNAs. In the case of the FOS AU-rich element, binds to a core element of 27 nucleotides that contain AUUUA, AUUUUA, and AUUUUUA motifs. Binds preferentially to the 5'-UUUU[AG]UUU-3' motif in vitro (PubMed:8626503). With ZNF385A, binds the 3'-UTR of p53/TP53 mRNA to control their nuclear export induced by CDKN2A. Hence, may regulate p53/TP53 expression and mediate in part the CDKN2A anti-proliferative activity. May also bind with ZNF385A the CCNB1 mRNA (By similarity). Increases the stability of the leptin mRNA harboring an AU-rich element (ARE) in its 3' UTR (PubMed:29180010). Phosphorylated by MAPKAPK2 (PubMed:14517288). Phosphorylated by PRKCD (PubMed:18285462).;Methylated at Arg-217 by CARM1 in macrophages in response to LPS challenge. Belongs to the RRM elav family. mRNA Splicing - Major Pathway;HuR (ELAVL1) binds and stabilizes mRNA PE1 19 +NX_Q15722 Leukotriene B4 receptor 1 352 37557 11.11 7 Cell membrane NA Receptor for extracellular ATP > UTP and ADP. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. May be the cardiac P2Y receptor involved in the regulation of cardiac muscle contraction through modulation of L-type calcium currents. Is a receptor for leukotriene B4, a potent chemoattractant involved in inflammation and immune response. Phosphorylated by GRK6 upon leukotriene B4 binding; which promotes desensitization.;LTB4R is phosphorylated by GRK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (q) signalling events;Leukotriene receptors PE1 14 +NX_Q15723 ETS-related transcription factor Elf-2 593 63967 6.15 0 Nucleoplasm;Nucleus NA Transcriptionally activates the LYN and BLK promoters and acts synergistically with RUNX1 to transactivate the BLK promoter.;May function in repression of RUNX1-mediated transactivation. NA Belongs to the ETS family. RUNX1 regulates transcription of genes involved in BCR signaling PE1 4 +NX_Q15726 Metastasis-suppressor KiSS-1 138 14705 10.17 0 Cytoplasmic vesicle;Secreted Hypogonadotropic hypogonadism 13 with or without anosmia Metastasis suppressor protein in malignant melanomas and in some breast cancers. May regulate events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. Generates a C-terminally amidated peptide, metastin which functions as the endogenous ligand of the G-protein coupled receptor GPR54. Activation of the receptor inhibits cell proliferation and cell migration, key characteristics of tumor metastasis. Kp-10 is a decapeptide derived from the primary translation product, isolated in conditioned medium of first trimester trophoblast. Kp-10, but not other kisspeptins, increased intracellular Ca(2+) levels in isolated first trimester trophoblasts. Kp-10 is a paracrine/endocrine regulator in fine-tuning trophoblast invasion generated by the trophoblast itself. The receptor is also essential for normal gonadotropin-released hormone physiology and for puberty. The hypothalamic KiSS1/GPR54 system is a pivotal factor in central regulation of the gonadotropic axis at puberty and in adulthood. Processed by MMP2 and MMP9. Belongs to the KISS1 family. Peptide ligand-binding receptors;G alpha (q) signalling events PE1 1 +NX_Q15735 Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A 1006 107197 9.22 0 Cytoplasm;Cytosol;Nucleolus NA Inositol 5-phosphatase, which converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate. Also converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate in vitro. May be involved in modulation of the function of inositol and phosphatidylinositol polyphosphate-binding proteins that are present at membranes ruffles (By similarity). NA Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PIPs at the plasma membrane;Synthesis of IP2, IP, and Ins in the cytosol;Synthesis of IP3 and IP4 in the cytosol PE1 22 +NX_Q15738 Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating 373 41900 8.16 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Lipid droplet CK syndrome;Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis. NA Belongs to the 3-beta-HSD family. Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 4/6.;Steroid biosynthesis;Metabolic pathways;Cholesterol biosynthesis PE1 X +NX_Q15742 NGFI-A-binding protein 2 525 56594 6.5 0 Nucleoplasm;Cytosol;Nucleus NA Lacks repression ability (By similarity).;Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2. Sumoylation by EGR2 represses EGR2 transcriptional activity in hindbrain. Belongs to the NAB family. NA PE1 12 +NX_Q15743 Ovarian cancer G-protein coupled receptor 1 365 41077 7.87 7 Cell membrane Amelogenesis imperfecta, hypomaturation type, 2A6 Proton-sensing receptor involved in pH homeostasis. May represents an osteoblastic pH sensor regulating cell-mediated responses to acidosis in bone. Mediates its action by association with G proteins that stimulates inositol phosphate (IP) production or Ca(2+) mobilization. The receptor is almost silent at pH 7.8 but fully activated at pH 6.8. Function also as a metastasis suppressor gene in prostate cancer (By similarity). NA Belongs to the G-protein coupled receptor 1 family. G alpha (q) signalling events;Class A/1 (Rhodopsin-like receptors) PE1 14 +NX_Q15744 CCAAT/enhancer-binding protein epsilon 281 30603 9.13 0 Nucleoplasm;Cytosol;Nucleus Specific granule deficiency 1 Transcriptional activator (PubMed:26019275). C/EBP are DNA-binding proteins that recognize two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers. Required for the promyelocyte-myelocyte transition in myeloid differentiation (PubMed:10359588). Phosphorylated. Belongs to the bZIP family. C/EBP subfamily. Transcriptional regulation of granulopoiesis PE1 14 +NX_Q15746 Myosin light chain kinase, smooth muscle 1914 210715 5.85 0 Cytoplasm;Cleavage furrow;Cell membrane;Stress fiber;Lamellipodium;Cytoskeleton Aortic aneurysm, familial thoracic 7 Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Also regulates actin-myosin interaction through a non-kinase activity. Phosphorylates PTK2B/PYK2 and myosin light-chains. Involved in the inflammatory response (e.g. Apoptosis, vascular permeability, leukocyte diapedesis), cell motility and morphology, airway hyperreactivity and other activities relevant to asthma. Required for tonic airway smooth muscle contraction that is necessary for physiological and asthmatic airway resistance. Necessary for gastrointestinal motility. Implicated in the regulation of endothelial as well as vascular permeability, probably via the regulation of cytoskeletal rearrangements. In the nervous system it has been shown to control the growth initiation of astrocytic processes in culture and to participate in transmitter release at synapses formed between cultured sympathetic ganglion cells. Critical participant in signaling sequences that result in fibroblast apoptosis. Plays a role in the regulation of epithelial cell survival. Required for epithelial wound healing, especially during actomyosin ring contraction during purse-string wound closure. Mediates RhoA-dependent membrane blebbing. Triggers TRPC5 channel activity in a calcium-dependent signaling, by inducing its subcellular localization at the plasma membrane. Promotes cell migration (including tumor cells) and tumor metastasis. PTK2B/PYK2 activation by phosphorylation mediates ITGB2 activation and is thus essential to trigger neutrophil transmigration during acute lung injury (ALI). May regulate optic nerve head astrocyte migration. Probably involved in mitotic cytoskeletal regulation. Regulates tight junction probably by modulating ZO-1 exchange in the perijunctional actomyosin ring. Mediates burn-induced microvascular barrier injury; triggers endothelial contraction in the development of microvascular hyperpermeability by phosphorylating MLC. Essential for intestinal barrier dysfunction. Mediates Giardia spp.-mediated reduced epithelial barrier function during giardiasis intestinal infection via reorganization of cytoskeletal F-actin and tight junctional ZO-1. Necessary for hypotonicity-induced Ca(2+) entry and subsequent activation of volume-sensitive organic osmolyte/anion channels (VSOAC) in cervical cancer cells. Responsible for high proliferative ability of breast cancer cells through anti-apoptosis. Can probably be down-regulated by phosphorylation. Tyrosine phosphorylation by ABL1 increases kinase activity, reverses MLCK-mediated inhibition of Arp2/3-mediated actin polymerization, and enhances CTTN-binding. Phosphorylation by SRC at Tyr-464 and Tyr-471 promotes CTTN binding.;Acetylated at Lys-608 by NAA10/ARD1 via a calcium-dependent signaling; this acetylation represses kinase activity and reduces tumor cell migration.;The C-terminus is deglutamylated by AGTPBP1/CCP1, AGBL1/CCP4 and AGBL4/CCP6, leading to the formation of Myosin light chain kinase, smooth muscle, deglutamylated form. The consequences of C-terminal deglutamylation are unknown (By similarity).;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MYLK is phosphorylated by SRC (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Calcium signaling pathway;Vascular smooth muscle contraction;Focal adhesion;Regulation of actin cytoskeleton;Gastric acid secretion;Smooth Muscle Contraction;RHO GTPases activate PAKs PE1 3 +NX_Q15750 TGF-beta-activated kinase 1 and MAP3K7-binding protein 1 504 54644 5.31 0 Cytosol;Nucleus speckle NA May be an important signaling intermediate between TGFB receptors and MAP3K7/TAK1. May play an important role in mammalian embryogenesis. Monoubiquitinated. Deubiquitinated by Y.enterocolitica YopP. NA MAPK signaling pathway;Osteoclast differentiation;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;Leishmaniasis;Toxoplasmosis;Herpes simplex infection;FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;NOD1/2 Signaling Pathway;activated TAK1 mediates p38 MAPK activation;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6-mediated induction of TAK1 complex within TLR4 complex;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;IRAK2 mediated activation of TAK1 complex;IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation;TNFR1-induced NFkappaB signaling pathway;Ub-specific processing proteases;TICAM1,TRAF6-dependent induction of TAK1 complex;Interleukin-1 signaling PE1 22 +NX_Q15751 Probable E3 ubiquitin-protein ligase HERC1 4861 532228 5.69 0 Membrane;Golgi apparatus;Cytosol Macrocephaly, dysmorphic facies, and psychomotor retardation Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol 4,5-bisphosphate, which is required for GEF activity. May also act as a E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. NA NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation PE1 15 +NX_Q15758 Neutral amino acid transporter B(0) 541 56598 5.34 8 Melanosome;Cell membrane NA (Microbial infection) Acts as a cell surface receptor for Baboon M7 endogenous virus.;Sodium-dependent amino acids transporter that has a broad substrate specificity, with a preference for zwitterionic amino acids. It accepts as substrates all neutral amino acids, including glutamine, asparagine, and branched-chain and aromatic amino acids, and excludes methylated, anionic, and cationic amino acids (PubMed:8702519, PubMed:29872227). Through binding of the fusogenic protein syncytin-1/ERVW-1 may mediate trophoblasts syncytialization, the spontaneous fusion of their plasma membranes, an essential process in placental development (PubMed:10708449, PubMed:23492904).;(Microbial infection) Acts as a cell surface receptor for Feline endogenous virus RD114.;(Microbial infection) Acts as a cell surface receptor for type D simian retroviruses. NA Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A5 subfamily. Protein digestion and absorption;Amino acid transport across the plasma membrane PE1 19 +NX_Q15759 Mitogen-activated protein kinase 11 364 41357 5.56 0 Cytoplasm;Mitochondrion;Nucleus NA Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK11 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. MAPK11 functions are mostly redundant with those of MAPK14. Some of the targets are downstream kinases which are activated through phosphorylation and further phosphorylate additional targets. RPS6KA5/MSK1 and RPS6KA4/MSK2 can directly phosphorylate and activate transcription factors such as CREB1, ATF1, the NF-kappa-B isoform RELA/NFKB3, STAT1 and STAT3, but can also phosphorylate histone H3 and the nucleosomal protein HMGN1. RPS6KA5/MSK1 and RPS6KA4/MSK2 play important roles in the rapid induction of immediate-early genes in response to stress or mitogenic stimuli, either by inducing chromatin remodeling or by recruiting the transcription machinery. On the other hand, two other kinase targets, MAPKAPK2/MK2 and MAPKAPK3/MK3, participate in the control of gene expression mostly at the post-transcriptional level, by phosphorylating ZFP36 (tristetraprolin) and ELAVL1, and by regulating EEF2K, which is important for the elongation of mRNA during translation. MKNK1/MNK1 and MKNK2/MNK2, two other kinases activated by p38 MAPKs, regulate protein synthesis by phosphorylating the initiation factor EIF4E2. In the cytoplasm, the p38 MAPK pathway is an important regulator of protein turnover. For example, CFLAR is an inhibitor of TNF-induced apoptosis whose proteasome-mediated degradation is regulated by p38 MAPK phosphorylation. Ectodomain shedding of transmembrane proteins is regulated by p38 MAPKs as well. In response to inflammatory stimuli, p38 MAPKs phosphorylate the membrane-associated metalloprotease ADAM17. Such phosphorylation is required for ADAM17-mediated ectodomain shedding of TGF-alpha family ligands, which results in the activation of EGFR signaling and cell proliferation. Additional examples of p38 MAPK substrates are the FGFR1. FGFR1 can be translocated from the extracellular space into the cytosol and nucleus of target cells, and regulates processes such as rRNA synthesis and cell growth. FGFR1 translocation requires p38 MAPK activation. In the nucleus, many transcription factors are phosphorylated and activated by p38 MAPKs in response to different stimuli. Classical examples include ATF1, ATF2, ATF6, ELK1, PTPRH, DDIT3, TP53/p53 and MEF2C and MEF2A. The p38 MAPKs are emerging as important modulators of gene expression by regulating chromatin modifiers and remodelers. The promoters of several genes involved in the inflammatory response, such as IL6, IL8 and IL12B, display a p38 MAPK-dependent enrichment of histone H3 phosphorylation on 'Ser-10' (H3S10ph) in LPS-stimulated myeloid cells. This phosphorylation enhances the accessibility of the cryptic NF-kappa-B-binding sites marking promoters for increased NF-kappa-B recruitment. Dually phosphorylated on Thr-180 and Tyr-182 by MAP2K3/MKK3, MAP2K4/MKK4 and MAP2K6/MKK6, which activates the enzyme.;Autophosphorylated Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. MAPK signaling pathway;VEGF signaling pathway;Osteoclast differentiation;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;T cell receptor signaling pathway;Fc epsilon RI signaling pathway;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Dopaminergic synapse;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Amyotrophic lateral sclerosis (ALS);Epithelial cell signaling in Helicobacter pylori infection;Shigellosis;Salmonella infection;Pertussis;Leishmaniasis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Tuberculosis;Hepatitis C;Influenza A;DSCAM interactions;NOD1/2 Signaling Pathway;Oxidative Stress Induced Senescence;activated TAK1 mediates p38 MAPK activation;VEGFA-VEGFR2 Pathway;Activation of PPARGC1A (PGC-1alpha) by phosphorylation;KSRP (KHSRP) binds and destabilizes mRNA;p38MAPK events;RHO GTPases Activate NADPH Oxidases;ERK/MAPK targets;Activation of the AP-1 family of transcription factors;Regulation of TP53 Activity through Phosphorylation;Myogenesis PE1 22 +NX_Q15760 Probable G-protein coupled receptor 19 415 47687 9.6 7 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 12 +NX_Q15761 Neuropeptide Y receptor type 5 445 50727 9 7 Cell membrane NA Receptor for neuropeptide Y and peptide YY. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity. Seems to be associated with food intake. Could be involved in feeding disorders. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors PE2 4 +NX_Q15762 CD226 antigen 336 38614 8.11 1 Midbody;Cell membrane NA Involved in intercellular adhesion, lymphocyte signaling, cytotoxicity and lymphokine secretion mediated by cytotoxic T-lymphocyte (CTL) and NK cell (PubMed:8673704). Cell surface receptor for NECTIN2. Upon ligand binding, stimulates T-cell proliferation and cytokine production, including that of IL2, IL5, IL10, IL13, and IFNG. Competes with PVRIG for NECTIN2-binding (PubMed:26755705). NA NA Cell adhesion molecules (CAMs);Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 18 +NX_Q15768 Ephrin-B3 340 35835 8.85 1 Membrane NA Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. May play a pivotal role in forebrain function. Binds to, and induce the collapse of, commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons (By similarity).;(Microbial infection) Acts as a receptor for nipah virus and hendra virus. NA Belongs to the ephrin family. Axon guidance;EPH-Ephrin signaling;EPHB-mediated forward signaling;Ephrin signaling;EPH-ephrin mediated repulsion of cells PE1 17 +NX_Q15771 Ras-related protein Rab-30 203 23058 4.91 0 trans-Golgi network;Cytoplasm;Golgi apparatus;Membrane;Cytoplasmic vesicle NA The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). Required for maintaining the structural integrity of the Golgi apparatus, possibly by mediating interactions with cytoplasmic scaffolding proteins. NA Belongs to the small GTPase superfamily. Rab family. Intra-Golgi traffic;RAB geranylgeranylation PE1 11 +NX_Q15772 Striated muscle preferentially expressed protein kinase 3267 354289 8.82 0 Cytoplasmic vesicle;Nucleus Myopathy, centronuclear, 5 May have a role in regulating the growth and differentiation of arterial smooth muscle cells. May be autophosphorylated. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. NA PE1 2 +NX_Q15773 Myeloid leukemia factor 2 248 28147 6.4 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA NA NA Belongs to the MLF family. NA PE1 12 +NX_Q15776 Zinc finger protein with KRAB and SCAN domains 8 578 65816 7.04 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 6 +NX_Q15777 Metallophosphoesterase MPPED2 294 33360 5.85 0 Cytoplasmic vesicle;Mitochondrion;Nucleolus NA Displays low metallophosphoesterase activity (in vitro). May play a role in the development of the nervous system. NA Belongs to the UPF0046 family. NA PE1 11 +NX_Q15782 Chitinase-3-like protein 2 390 43501 7.11 0 Secreted NA Lectin that binds chitooligosaccharides and other glycans with high affinity, but not heparin. Has no chitinase activity. NA Belongs to the glycosyl hydrolase 18 family. NA PE1 1 +NX_Q15784 Neurogenic differentiation factor 2 382 41361 6.29 0 Nucleus Epileptic encephalopathy, early infantile, 72 Transcriptional regulator implicated in neuronal determination. Mediates calcium-dependent transcription activation by binding to E box-containing promoter. Critical factor essential for the repression of the genetic program for neuronal differentiation; prevents the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. Induces transcription of ZEB1, which in turn represses neuronal differentiation by down-regulating REST expression. Plays a role in the establishment and maturation of thalamocortical connections; involved in the segregation of thalamic afferents into distinct barrel domains within layer VI of the somatosensory cortex. Involved in the development of the cerebellar and hippocampal granular neurons, neurons in the basolateral nucleus of amygdala and the hypothalamic-pituitary axis. Associates with chromatin to the DPYSL3 E box-containing promoter (By similarity). NA NA NA PE1 17 +NX_Q15785 Mitochondrial import receptor subunit TOM34 309 34559 9.12 0 Mitochondrion outer membrane;Cytoplasm NA Plays a role in the import of cytosolically synthesized preproteins into mitochondria. Binds the mature portion of precursor proteins. Interacts with cellular components, and possesses weak ATPase activity. May be a chaperone-like protein that helps to keep newly synthesized precursors in an unfolded import compatible state. NA Belongs to the Tom34 family. NA PE1 20 +NX_Q15788 Nuclear receptor coactivator 1 1441 156757 5.84 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA Has a higher thyroid hormone-dependent transactivation activity than isoform 1 and isoform 3.;Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Involved in the coactivation of different nuclear receptors, such as for steroids (PGR, GR and ER), retinoids (RXRs), thyroid hormone (TRs) and prostanoids (PPARs). Also involved in coactivation mediated by STAT3, STAT5A, STAT5B and STAT6 transcription factors. Displays histone acetyltransferase activity toward H3 and H4; the relevance of such activity remains however unclear. Plays a central role in creating multisubunit coactivator complexes that act via remodeling of chromatin, and possibly acts by participating in both chromatin remodeling and recruitment of general transcription factors. Required with NCOA2 to control energy balance between white and brown adipose tissues. Required for mediating steroid hormone response. Sumoylated; sumoylation increases its interaction with PGR and prolongs its retention in the nucleus. It does not prevent its ubiquitination and does not exert a clear effect on the stability of the protein.;Ubiquitinated; leading to proteasome-mediated degradation. Ubiquitination and sumoylation take place at different sites. Belongs to the SRC/p160 nuclear receptor coactivator family. HATs acetylate histones;PPARA activates gene expression;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 27-hydroxycholesterol;RORA activates gene expression;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;Endogenous sterols;Activation of gene expression by SREBF (SREBP);Transcriptional regulation of white adipocyte differentiation;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);Recycling of bile acids and salts;Synthesis of bile acids and bile salts;Estrogen-dependent gene expression;SUMOylation of transcription cofactors PE1 2 +NX_Q15796 Mothers against decapentaplegic homolog 2 467 52306 6.13 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD2/SMAD4 complex, activates transcription. May act as a tumor suppressor in colorectal carcinoma. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator. Acetylation increases DNA binding activity in vitro and enhances its association with target promoters in vivo. Acetylation in the nucleus by EP300 is enhanced by TGF-beta.;Phosphorylated on one or several of Thr-220, Ser-245, Ser-250, and Ser-255. In response to TGF-beta, phosphorylated on Ser-465/467 by TGF-beta and activin type 1 receptor kinases. TGF-beta-induced Ser-465/467 phosphorylation declines progressively in a KMT5A-dependent manner. Able to interact with SMURF2 when phosphorylated on Ser-465/467, recruiting other proteins, such as SNON, for degradation. In response to decorin, the naturally occurring inhibitor of TGF-beta signaling, phosphorylated on Ser-240 by CaMK2. Phosphorylated by MAPK3 upon EGF stimulation; which increases transcriptional activity and stability, and is blocked by calmodulin. Phosphorylated by PDPK1.;Acetylated on Lys-19 by coactivators in response to TGF-beta signaling, which increases transcriptional activity.;In response to TGF-beta, ubiquitinated by NEDD4L; which promotes its degradation. Monoubiquitinated, leading to prevent DNA-binding (By similarity). Deubiquitination by USP15 alleviates inhibition and promotes activation of TGF-beta target genes (PubMed:21947082). Ubiquitinated by RNF111, leading to its degradation: only SMAD2 proteins that are 'in use' are targeted by RNF111, RNF111 playing a key role in activating SMAD2 and regulating its turnover (By similarity).;SMAD2 is phosphorylated by ACVR1C;SMAD2 is phosphorylated by ACVR1B (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the dwarfin/SMAD family. Cell cycle;Endocytosis;Wnt signaling pathway;TGF-beta signaling pathway;Adherens junction;Chagas disease (American trypanosomiasis);HTLV-I infection;Pathways in cancer;Colorectal cancer;Pancreatic cancer;Transcriptional regulation of pluripotent stem cells;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Downregulation of SMAD2/3:SMAD4 transcriptional activity;Downregulation of TGF-beta receptor signaling;TGF-beta receptor signaling activates SMADs;Signaling by NODAL;Signaling by Activin;SMAD2/3 Phosphorylation Motif Mutants in Cancer;SMAD4 MH2 Domain Mutants in Cancer;SMAD2/3 MH2 Domain Mutants in Cancer;TGFBR1 KD Mutants in Cancer;Ub-specific processing proteases;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes;FOXO-mediated transcription of cell cycle genes PE1 18 +NX_Q15797 Mothers against decapentaplegic homolog 1 465 52260 6.9 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. May act synergistically with SMAD4 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Phosphorylation of the C-terminal SVS motif by BMP type 1 receptor kinase activates SMAD1 by promoting dissociation from the receptor and trimerization with SMAD4.;Ubiquitinated by SMAD-specific E3 ubiquitin ligase SMURF1, leading to its degradation. Monoubiquitinated, leading to prevent DNA-binding. Deubiquitination by USP15 alleviates inhibition and promotes activation of TGF-beta target genes. Dephosphorylation, probably by PPM1A, induces its export from the nucleus to the cytoplasm (By similarity). Belongs to the dwarfin/SMAD family. TGF-beta signaling pathway;Signaling by BMP;Ub-specific processing proteases;RUNX2 regulates bone development PE1 4 +NX_Q15800 Methylsterol monooxygenase 1 293 35216 6.75 3 Endoplasmic reticulum membrane Microcephaly, congenital cataract, and psoriasiform dermatitis Catalyzes the first step in the removal of the two C-4 methyl groups of 4,4-dimethylzymosterol. NA Belongs to the sterol desaturase family. Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 3/6.;Steroid biosynthesis;Metabolic pathways;Cholesterol biosynthesis PE1 4 +NX_Q15811 Intersectin-1 1721 195422 7.76 0 Cytoplasm;Cell membrane;Synaptosome;Recycling endosome;Endomembrane system;Clathrin-coated pit;Endosome;Lamellipodium;Nucleus envelope;Cytoplasmic vesicle NA Plays a role in synaptic vesicle endocytosis in brain neurons.;Adapter protein that provides a link between the endocytic membrane traffic and the actin assembly machinery (PubMed:11584276, PubMed:29887380). Acts as guanine nucleotide exchange factor (GEF) for CDC42, and thereby stimulates actin nucleation mediated by WASL and the ARP2/3 complex (PubMed:11584276). Plays a role in the assembly and maturation of clathrin-coated vesicles (By similarity). Recruits FCHSD2 to clathrin-coated pits (PubMed:29887380). Involved in endocytosis of activated EGFR, and probably also other growth factor receptors (By similarity). Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR may involve association with DAB2 (PubMed:22648170). Promotes ubiquitination and subsequent degradation of EGFR, and thereby contributes to the down-regulation of EGFR-dependent signaling pathways. In chromaffin cells, required for normal exocytosis of catecholamines. Required for rapid replenishment of release-ready synaptic vesicles at presynaptic active zones (By similarity). Inhibits ARHGAP31 activity toward RAC1 (PubMed:11744688). NA NA EPHB-mediated forward signaling;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 21 +NX_Q15813 Tubulin-specific chaperone E 527 59346 6.32 0 Cytoplasm;Cytoskeleton Hypoparathyroidism-retardation-dysmorphism syndrome;Kenny-Caffey syndrome 1;Encephalopathy, progressive, with amyotrophy and optic atrophy Tubulin-folding protein; involved in the second step of the tubulin folding pathway and in the regulation of tubulin heterodimer dissociation. Required for correct organization of microtubule cytoskeleton and mitotic splindle, and maintenance of the neuronal microtubule network. NA Belongs to the TBCE family. Post-chaperonin tubulin folding pathway PE1 1 +NX_Q15814 Tubulin-specific chaperone C 346 39248 5.55 0 Cytoplasm;Cytosol NA Tubulin-folding protein; involved in the final step of the tubulin folding pathway. NA Belongs to the TBCC family. Post-chaperonin tubulin folding pathway PE1 6 +NX_Q15818 Neuronal pentraxin-1 432 47122 6.16 0 Secretory vesicle NA May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses. NA NA NA PE1 17 +NX_Q15819 Ubiquitin-conjugating enzyme E2 variant 2 145 16363 7.79 0 Cytoplasm;Nucleus NA Has no ubiquitin ligase activity on its own. The UBE2V2/UBE2N heterodimer catalyzes the synthesis of non-canonical poly-ubiquitin chains that are linked through 'Lys-63'. This type of poly-ubiquitination does not lead to protein degradation by the proteasome. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage. NA Belongs to the ubiquitin-conjugating enzyme family. Antigen processing: Ubiquitination & Proteasome degradation;G2/M DNA damage checkpoint;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Formation of Incision Complex in GG-NER;E3 ubiquitin ligases ubiquitinate target proteins PE1 8 +NX_Q15822 Neuronal acetylcholine receptor subunit alpha-2 529 59765 5.69 4 Postsynaptic cell membrane;Cell membrane Epilepsy, nocturnal frontal lobe, 4;Seizures, benign familial infantile, 6 After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-2/CHRNA2 sub-subfamily. Neuroactive ligand-receptor interaction;Highly calcium permeable postsynaptic nicotinic acetylcholine receptors;Highly calcium permeable nicotinic acetylcholine receptors PE1 8 +NX_Q15825 Neuronal acetylcholine receptor subunit alpha-6 494 56898 6.16 4 Postsynaptic cell membrane;Cell membrane NA After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-6/CHRNA6 sub-subfamily. Neuroactive ligand-receptor interaction;Cholinergic synapse;Highly calcium permeable postsynaptic nicotinic acetylcholine receptors;Highly calcium permeable nicotinic acetylcholine receptors PE1 8 +NX_Q15828 Cystatin-M 149 16511 8.32 0 Cytosol;Secreted;Cell membrane NA Shows moderate inhibition of cathepsin B but is not active against cathepsin C. Substrate for transglutaminases. Acts as an acyl acceptor but not as an acyl donor. Belongs to the cystatin family. NA PE1 11 +NX_Q15831 Serine/threonine-protein kinase STK11 433 48636 7.12 0 Cytoplasm;Mitochondrion;Membrane;Nucleoplasm;Cytosol;Nucleus Testicular germ cell tumor;Peutz-Jeghers syndrome Has a role in spermiogenesis.;Tumor suppressor serine/threonine-protein kinase that controls the activity of AMP-activated protein kinase (AMPK) family members, thereby playing a role in various processes such as cell metabolism, cell polarity, apoptosis and DNA damage response. Acts by phosphorylating the T-loop of AMPK family proteins, thus promoting their activity: phosphorylates PRKAA1, PRKAA2, BRSK1, BRSK2, MARK1, MARK2, MARK3, MARK4, NUAK1, NUAK2, SIK1, SIK2, SIK3 and SNRK but not MELK. Also phosphorylates non-AMPK family proteins such as STRADA, PTEN and possibly p53/TP53. Acts as a key upstream regulator of AMPK by mediating phosphorylation and activation of AMPK catalytic subunits PRKAA1 and PRKAA2 and thereby regulates processes including: inhibition of signaling pathways that promote cell growth and proliferation when energy levels are low, glucose homeostasis in liver, activation of autophagy when cells undergo nutrient deprivation, and B-cell differentiation in the germinal center in response to DNA damage. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton. Required for cortical neuron polarization by mediating phosphorylation and activation of BRSK1 and BRSK2, leading to axon initiation and specification. Involved in DNA damage response: interacts with p53/TP53 and recruited to the CDKN1A/WAF1 promoter to participate in transcription activation. Able to phosphorylate p53/TP53; the relevance of such result in vivo is however unclear and phosphorylation may be indirect and mediated by downstream STK11/LKB1 kinase NUAK1. Also acts as a mediator of p53/TP53-dependent apoptosis via interaction with p53/TP53: translocates to the mitochondrion during apoptosis and regulates p53/TP53-dependent apoptosis pathways. In vein endothelial cells, inhibits PI3K/Akt signaling activity and thus induces apoptosis in response to the oxidant peroxynitrite (in vitro). Regulates UV radiation-induced DNA damage response mediated by CDKN1A. In association with NUAK1, phosphorylates CDKN1A in response to UV radiation and contributes to its degradation which is necessary for optimal DNA repair (PubMed:25329316). Phosphorylated by ATM at Thr-363 following ionizing radiation (IR). Phosphorylation at Ser-428 by RPS6KA1 and/or some PKA is required to inhibit cell growth. Phosphorylation at Ser-428 is also required during neuronal polarization to mediate phosphorylation of BRSK1 and BRSK2 (By similarity). Phosphorylation by PKC/PRKCZ at Ser-428 promotes peroxynitrite-induced nuclear export of STK11, leading to PTEN activation and subsequent inhibition of AKT signaling. Phosphorylation by PKC/PRKCZ at Ser-399 in isoform 2 promotes metformin (or peroxynitrite)-induced nuclear export of STK11 and activation of AMPK. UV radiation-induced phosphorylation at Thr-363 mediates CDKN1A degradation (By similarity).;Acetylated. Deacetylation at Lys-48 enhances cytoplasmic localization and kinase activity in vitro. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. LKB1 subfamily. mTOR signaling pathway;Adipocytokine signaling pathway;Energy dependent regulation of mTOR by LKB1-AMPK;AMPK inhibits chREBP transcriptional activation activity;Regulation of TP53 Activity through Phosphorylation;FOXO-mediated transcription of cell death genes PE1 19 +NX_Q15833 Syntaxin-binding protein 2 593 66453 6.11 0 Cytosol Familial hemophagocytic lymphohistiocytosis 5 Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the granule exocytosis machinery through interaction with soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that regulate membrane fusion. Regulates cytotoxic granule exocytosis in natural killer (NK) cells. NA Belongs to the STXBP/unc-18/SEC1 family. Platelet degranulation;Other interleukin signaling PE1 19 +NX_Q15834 Coiled-coil domain-containing protein 85B 202 22091 5.06 0 Adherens junction;Centrosome;Nucleus NA (Microbial infection) Plays a role in hepatitis delta virus (HDV) genomic replication.;Functions as a transcriptional repressor (PubMed:17014843). May inhibit the activity of CTNNB1 in a TP53-dependent manner and thus regulate cell growth (PubMed:17873903). May function in adipocyte differentiation, negatively regulating mitotic clonal expansion (By similarity). Plays a role in cell-cell adhesion and epithelium development through its interaction with proteins of the beta-catenin family (By similarity). NA Belongs to the CCDC85 family. NA PE1 11 +NX_Q15835 Rhodopsin kinase GRK1 563 63526 5.63 0 Membrane;Photoreceptor outer segment Night blindness, congenital stationary, Oguchi type 2 Retina-specific kinase involved in the signal turnoff via phosphorylation of rhodopsin (RHO), the G protein- coupled receptor that initiates the phototransduction cascade (PubMed:15946941). This rapid desensitization is essential for scotopic vision and permits rapid adaptation to changes in illumination (By similarity). May play a role in the maintenance of the outer nuclear layer in the retina (By similarity). Autophosphorylated, Ser-21 is a minor site of autophosphorylation compared to Ser-491 and Thr-492 (By similarity). Phosphorylation at Ser-21 is regulated by light and activated by cAMP.;Farnesylation is required for full activity. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily. Chemokine signaling pathway;Endocytosis;Phototransduction;Inactivation, recovery and regulation of the phototransduction cascade PE1 13 +NX_Q15836 Vesicle-associated membrane protein 3 100 11309 8.89 1 Membrane;Synaptosome NA SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network. (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type B (BoNT/B, botB) which hydrolyzes the 59-Gln-|-Phe-60 bond and probably inhibits neurotransmitter release (PubMed:22289120).;(Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type F (BoNT/F, botF) which hydrolyzes the 41-Gln-|-Lys-42 bond and probably inhibits neurotransmitter release (PubMed:22289120).;(Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type D (BoNT/D, botD) which hydrolyzes the 42-Lys-|-Leu-43 bond and probably inhibits neurotransmitter release (PubMed:22289120). Note that humans are not known to be infected by C.botulinum type D. Belongs to the synaptobrevin family. SNARE interactions in vesicular transport;Phagosome;ER-Phagosome pathway;Retrograde transport at the Trans-Golgi-Network;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 1 +NX_Q15842 ATP-sensitive inward rectifier potassium channel 8 424 47968 9.38 2 Membrane Hypertrichotic osteochondrodysplasia;Sudden infant death syndrome This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium (By similarity). NA Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ8 subfamily. ATP sensitive Potassium channels PE1 12 +NX_Q15843 NEDD8 81 9072 7.99 0 Nucleoplasm;Cytosol;Nucleus NA Ubiquitin-like protein which plays an important role in cell cycle control and embryogenesis. Covalent attachment to its substrates requires prior activation by the E1 complex UBE1C-APPBP1 and linkage to the E2 enzyme UBE2M. Attachment of NEDD8 to cullins activates their associated E3 ubiquitin ligase activity, and thus promotes polyubiquitination and proteasomal degradation of cyclins and other regulatory proteins. Cleavage of precursor form by UCHL3 or SENP8 is necessary for function. Belongs to the ubiquitin family. Iron uptake and transport;TGF-beta receptor signaling activates SMADs;UCH proteinases;Cargo recognition for clathrin-mediated endocytosis;Neddylation PE1 14 +NX_Q15846 Clusterin-like protein 1 466 54215 5.09 0 Endoplasmic reticulum;Secreted;Cell membrane NA NA NA Belongs to the clusterin family. NA PE1 18 +NX_Q15847 Adipogenesis regulatory factor 76 7855 5.17 0 Nucleoplasm;Cytosol;Nucleus NA Plays a role in fat cell development; promotes adipogenic differentiation and stimulates transcription initiation of master adipogenesis factors like PPARG and CEBPA at early stages of preadipocyte differentiation. Its overexpression confers resistance to the anticancer chemotherapeutic drug cisplatin. NA NA Transcriptional regulation of white adipocyte differentiation PE1 10 +NX_Q15848 Adiponectin 244 26414 5.42 0 Secreted Adiponectin deficiency;Diabetes mellitus, non-insulin-dependent Important adipokine involved in the control of fat metabolism and insulin sensitivity, with direct anti-diabetic, anti-atherogenic and anti-inflammatory activities. Stimulates AMPK phosphorylation and activation in the liver and the skeletal muscle, enhancing glucose utilization and fatty-acid combustion. Antagonizes TNF-alpha by negatively regulating its expression in various tissues such as liver and macrophages, and also by counteracting its effects. Inhibits endothelial NF-kappa-B signaling through a cAMP-dependent pathway. May play a role in cell growth, angiogenesis and tissue remodeling by binding and sequestering various growth factors with distinct binding affinities, depending on the type of complex, LMW, MMW or HMW. O-glycosylated. Not N-glycosylated. O-linked glycans on hydroxylysines consist of Glc-Gal disaccharides bound to the oxygen atom of post-translationally added hydroxyl groups. Sialylated to varying degrees depending on tissue. Thr-22 appears to be the major site of sialylation. Higher sialylation found in SGBS adipocytes than in HEK fibroblasts. Sialylation is not required neither for heterodimerization nor for secretion. Not sialylated on the glycosylated hydroxylysines. Desialylated forms are rapidly cleared from the circulation.;HMW complexes are more extensively glycosylated than smaller oligomers. Hydroxylation and glycosylation of the lysine residues within the collagen-like domain of adiponectin seem to be critically involved in regulating the formation and/or secretion of HMW complexes and consequently contribute to the insulin-sensitizing activity of adiponectin in hepatocytes.;Succination of Cys-36 by the Krebs cycle intermediate fumarate, which leads to S-(2-succinyl)cysteine residues, inhibits polymerization and secretion of adiponectin. Adiponectin is a major target for succination in both adipocytes and adipose tissue of diabetic mammals. It was proposed that succination of proteins is a biomarker of mitochondrial stress and accumulation of Krebs cycle intermediates in adipose tissue in diabetes and that succination of adiponectin may contribute to the decrease in plasma adiponectin in diabetes. NA PPAR signaling pathway;Adipocytokine signaling pathway;Type II diabetes mellitus;Transcriptional regulation of white adipocyte differentiation;AMPK inhibits chREBP transcriptional activation activity PE1 3 +NX_Q15849 Urea transporter 2 920 101209 6.51 17 Apical cell membrane NA Specialized low-affinity vasopressin-regulated urea transporter. Mediates rapid transepithelial urea transport across the inner medullary collecting duct and plays a major role in the urinary concentrating mechanism. NA Belongs to the urea transporter family. Transport of bile salts and organic acids, metal ions and amine compounds PE1 18 +NX_Q15853 Upstream stimulatory factor 2 346 36955 4.97 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Transcription factor that binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') that is found in a variety of viral and cellular promoters. NA NA Estrogen-dependent gene expression PE1 19 +NX_Q15858 Sodium channel protein type 9 subunit alpha 1988 226372 6.55 24 Neuron projection;Focal adhesion;Cytoskeleton;Cell membrane Primary erythermalgia;Febrile seizures, familial, 3B;Paroxysmal extreme pain disorder;Generalized epilepsy with febrile seizures plus 7;Indifference to pain, congenital, autosomal recessive Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:7720699, PubMed:17167479, PubMed:25240195, PubMed:26680203, PubMed:15385606, PubMed:16988069, PubMed:17145499, PubMed:19369487, PubMed:24311784). It is a tetrodotoxin-sensitive Na(+) channel isoform (PubMed:7720699). Plays a role in pain mechanisms, especially in the development of inflammatory pain (PubMed:17167479, PubMed:17145499, PubMed:19369487, PubMed:24311784). Ubiquitinated by NEDD4L; which may promote its endocytosis. Does not seem to be ubiquitinated by NEDD4.;Phosphorylation at Ser-1490 by PKC in a highly conserved cytoplasmic loop increases peak sodium currents. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.7/SCN9A subfamily. Interaction between L1 and Ankyrins;Phase 0 - rapid depolarisation PE1 2 +NX_Q15878 Voltage-dependent R-type calcium channel subunit alpha-1E 2313 261731 8.52 24 Membrane;Cytosol;Cytoskeleton;Cell membrane Epileptic encephalopathy, early infantile, 69 Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells (PubMed:30343943). They are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by nickel. They are however insensitive to dihydropyridines (DHP). Calcium channels containing alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is important for information processing. NA Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1E subfamily. MAPK signaling pathway;Calcium signaling pathway;Type II diabetes mellitus;Presynaptic depolarization and calcium channel opening;Regulation of insulin secretion PE1 1 +NX_Q15884 Protein FAM189A2 450 49703 6.57 1 Membrane NA NA NA Belongs to the FAM189 family. NA PE1 9 +NX_Q15904 V-type proton ATPase subunit S1 470 52026 5.73 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum;Cytosol;Cytoskeleton Immunodeficiency 47 Accessory subunit of the proton-transporting vacuolar (V)-ATPase protein pump, which is required for luminal acidification of secretory vesicles. Guides the V-type ATPase into specialized subcellular compartments, such as neuroendocrine regulated secretory vesicles or the ruffled border of the osteoclast, thereby regulating its activity. Involved in membrane trafficking and Ca(2+)-dependent membrane fusion. May play a role in the assembly of the V-type ATPase complex. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633). N-glycosylated. Belongs to the vacuolar ATPase subunit S1 family. Oxidative phosphorylation;Metabolic pathways;Lysosome;Phagosome;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Tuberculosis;Rheumatoid arthritis;Transferrin endocytosis and recycling;Insulin receptor recycling;Ion channel transport PE1 X +NX_Q15906 Vacuolar protein sorting-associated protein 72 homolog 364 40594 6.09 0 Nucleus speckle;Nucleus NA Deposition-and-exchange histone chaperone specific for H2AFZ, specifically chaperones H2AFZ and deposits it into nucleosomes. As component of the SRCAP complex, mediates the ATP-dependent exchange of histone H2AFZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling. NA Belongs to the VPS72/YL1 family. HATs acetylate histones PE1 1 +NX_Q15907 Ras-related protein Rab-11B 218 24489 5.64 0 Phagosome membrane;Centriolar satellite;Synaptic vesicle membrane;Recycling endosome membrane;Cytoplasmic vesicle Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. The small Rab GTPase RAB11B plays a role in endocytic recycling, regulating apical recycling of several transmembrane proteins including cystic fibrosis transmembrane conductance regulator/CFTR, epithelial sodium channel/ENaC, potassium voltage-gated channel, and voltage-dependent L-type calcium channel. May also regulate constitutive and regulated secretion, like insulin granule exocytosis. Required for melanosome transport and release from melanocytes. Also regulates V-ATPase intracellular transport in response to extracellular acidosis. Citrullinated by PADI4. Belongs to the small GTPase superfamily. Rab family. Endocytosis;Vasopressin-regulated water reabsorption;TBC/RABGAPs;RAB geranylgeranylation PE1 19 +NX_Q15910 Histone-lysine N-methyltransferase EZH2 746 85363 6.65 0 Nucleoplasm;Nucleus Weaver syndrome Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Displays a preference for substrates with less methylation, loses activity when progressively more methyl groups are incorporated into H3K27, H3K27me0 > H3K27me1 > H3K27me2 (PubMed:22323599, PubMed:30923826). Compared to EZH1-containing complexes, it is more abundant in embryonic stem cells and plays a major role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1, CDKN2A and retinoic acid target genes. EZH2 can also methylate non-histone proteins such as the transcription factor GATA4 and the nuclear receptor RORA. Regulates the circadian clock via histone methylation at the promoter of the circadian genes. Essential for the CRY1/2-mediated repression of the transcriptional activation of PER1/2 by the CLOCK-ARNTL/BMAL1 heterodimer; involved in the di and trimethylation of 'Lys-27' of histone H3 on PER1/2 promoters which is necessary for the CRY1/2 proteins to inhibit transcription. Glycosylated: O-GlcNAcylation at Ser-75 by OGT increases stability of EZH2 and facilitates the formation of H3K27me3 by the PRC2/EED-EZH2 complex.;Phosphorylated by AKT1. Phosphorylation by AKT1 reduces methyltransferase activity. Phosphorylation at Thr-345 by CDK1 and CDK2 promotes maintenance of H3K27me3 levels at EZH2-target loci, thus leading to epigenetic gene silencing.;Sumoylated. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. EZ subfamily. PKMTs methylate histone lysines;Oxidative Stress Induced Senescence;PRC2 methylates histones and DNA;Activation of anterior HOX genes in hindbrain development during early embryogenesis;Transcriptional Regulation by E2F6;Regulation of PTEN gene transcription PE1 7 +NX_Q15911 Zinc finger homeobox protein 3 3703 404419 5.82 0 Cytoplasm;Nucleus NA Transcriptional regulator which can act as an activator or a repressor. Inhibits the enhancer element of the AFP gene by binding to its AT-rich core sequence. In concert with SMAD-dependent TGF-beta signaling can repress the transcription of AFP via its interaction with SMAD2/3 (PubMed:25105025). Regulates the circadian locomotor rhythms via transcriptional activation of neuropeptidergic genes which are essential for intercellular synchrony and rhythm amplitude in the suprachiasmatic nucleus (SCN) of the brain (By similarity). Regulator of myoblasts differentiation through the binding to the AT-rich sequence of MYF6 promoter and promoter repression (PubMed:11312261). Down-regulates the MUC5AC promoter in gastric cancer (PubMed:17330845). In association with RUNX3, upregulates CDKN1A promoter activity following TGF-beta stimulation (PubMed:20599712). Inhibits estrogen receptor (ESR1) function by selectively competing with coactivator NCOA3 for binding to ESR1 in ESR1-positive breast cancer cells (PubMed:20720010). Ubiquitinated, leading to its proteasomal degradation.;Adult brain-derived ZFHX3 is sensitive, but embryonic brain-derived ZFHX3 is resistant to calpain 1-mediated proteolysis.;Nuclear localization is essential for its sumoylation.;Phosphorylation decreases its sensitivity to calpain-mediated proteolysis. NA RUNX3 regulates CDKN1A transcription PE1 16 +NX_Q15915 Zinc finger protein ZIC 1 447 48309 8.7 0 Cytoplasm;Nucleoplasm;Nucleus Craniosynostosis 6 Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar territories. May have a role in shear flow mechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3 in the cytoplasm. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3' (By similarity). NA Belongs to the GLI C2H2-type zinc-finger protein family. NA PE1 3 +NX_Q15916 Zinc finger and BTB domain-containing protein 6 424 48236 6.29 0 Nucleoplasm;Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 9 +NX_Q15928 Zinc finger protein 141 474 55249 9.43 0 Nucleus Polydactyly, postaxial A6 May be involved in transcriptional regulation as a repressor. Plays a role in limb development. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 4 +NX_Q15929 Putative zinc finger protein 56 161 18651 8.85 0 Nucleus NA NA NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE5 19 +NX_Q15935 Zinc finger protein 77 545 61964 9.04 0 Nucleoplasm;Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q15937 Zinc finger protein 79 498 55350 8.54 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 9 +NX_Q15940 Putative zinc finger protein 726P1 193 22988 9.85 0 NA NA NA NA NA Generic Transcription Pathway PE5 19 +NX_Q15942 Zyxin 572 61277 6.22 0 Cytoplasm;Focal adhesion;Nucleus;Cytoskeleton NA Adhesion plaque protein. Binds alpha-actinin and the CRP protein. Important for targeting TES and ENA/VASP family members to focal adhesions and for the formation of actin-rich structures. May be a component of a signal transduction pathway that mediates adhesion-stimulated changes in gene expression (By similarity). ZYX is phosphorylated by MAPK3 Belongs to the zyxin/ajuba family. Focal adhesion PE1 7 +NX_Q15973 Zinc finger protein 124 351 40217 9.11 0 Nucleoplasm;Nucleus membrane;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 1 +NX_Q16048 Putative pro-MCH-like protein 1 86 9715 6.72 0 NA NA NA NA Belongs to the melanin-concentrating hormone family. NA PE5 5 +NX_Q16082 Heat shock protein beta-2 182 20233 5.07 0 Cytoplasm;Nucleus NA May regulate the kinase DMPK. NA Belongs to the small heat shock protein (HSP20) family. NA PE1 11 +NX_Q16099 Glutamate receptor ionotropic, kainate 4 956 107246 6.3 3 Cell membrane;Postsynaptic cell membrane NA Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. NA Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK4 subfamily. Neuroactive ligand-receptor interaction;Glutamatergic synapse;Activation of Ca-permeable Kainate Receptor PE2 11 +NX_Q16134 Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial 617 68495 7.31 0 Mitochondrion inner membrane Glutaric aciduria 2C Accepts electrons from ETF and reduces ubiquinone. NA Belongs to the ETF-QO/FixC family. Respiratory electron transport PE1 4 +NX_Q16143 Beta-synuclein 134 14288 4.41 0 Cytoplasm NA Non-amyloid component of senile plaques found in Alzheimer disease. Could act as a regulator of SNCA aggregation process. Protects neurons from staurosporine and 6-hydroxy dopamine (6OHDA)-stimulated caspase activation in a p53/TP53-dependent manner. Contributes to restore the SNCA anti-apoptotic function abolished by 6OHDA. Not found in the Lewy bodies associated with Parkinson disease. Phosphorylated. Phosphorylation by G-protein coupled receptor kinases (GRK) is more efficient than phosphorylation by CK1, CK2 and CaM-kinase II. Belongs to the synuclein family. MTF1 activates gene expression PE1 5 +NX_Q16181 Septin-7 437 50680 8.76 0 Cytoplasm;Cleavage furrow;Nucleolus;Midbody;Cilium axoneme;Flagellum;Cytosol;Spindle;Kinetochore;Cytoskeleton NA Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Required for normal progress through mitosis. Involved in cytokinesis. Required for normal association of CENPE with the kinetochore. Plays a role in ciliogenesis and collective cell movements. Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. MAPK6/MAPK4 signaling PE1 7 +NX_Q16186 Proteasomal ubiquitin receptor ADRM1 407 42153 4.96 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Within the complex, functions as a proteasomal ubiquitin receptor. Engages and activates 19S-associated deubiquitinases UCHL5 and PSMD14 during protein degradation. UCHL5 reversibly associate with the 19S regulatory particle whereas PSMD14 is an intrinsic subunit of the proteasome lid subcomplex. NA Belongs to the ADRM1 family. UCH proteinases;Ub-specific processing proteases PE1 20 +NX_Q16204 Coiled-coil domain-containing protein 6 474 53291 6.87 0 Cytoplasm;Cytosol;Cytoskeleton NA NA NA NA Pathways in cancer;Thyroid cancer PE1 10 +NX_Q16206 Ecto-NOX disulfide-thiol exchanger 2 610 70082 5.67 0 Extracellular space;Cell membrane NA May be involved in cell growth. Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide-thiol interchange/oxidoreductase activity which may control physical membrane displacements associated with vesicle budding or cell enlargement. The activities oscillate with a period length of 22 minutes and play a role in control of the ultradian cellular biological clock. Glycosylated. Belongs to the ENOX family. NA PE1 X +NX_Q16222 UDP-N-acetylhexosamine pyrophosphorylase 522 58769 5.92 0 Cytoplasm;Nucleoplasm;Cytosol;Cell membrane NA Has 2 to 3 times higher activity towards GalNAc-1-P, while isoform AGX2 has 8 times more activity towards GlcNAc-1-P.;Converts UTP and GlcNAc-1-P into UDP-GlcNAc, and UTP and GalNAc-1-P into UDP-GalNAc. NA Belongs to the UDPGP type 1 family. Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; UDP-N-acetyl-alpha-D-glucosamine from N-acetyl-alpha-D-glucosamine 1-phosphate: step 1/1.;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Synthesis of UDP-N-acetyl-glucosamine PE1 1 +NX_Q16236 Nuclear factor erythroid 2-related factor 2 605 67827 4.67 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus Immunodeficiency, developmental delay, and hypohomocysteinemia Transcription factor that plays a key role in the response to oxidative stress: binds to antioxidant response (ARE) elements present in the promoter region of many cytoprotective genes, such as phase 2 detoxifying enzymes, and promotes their expression, thereby neutralizing reactive electrophiles (PubMed:11035812, PubMed:19489739, PubMed:29018201, PubMed:31398338). In normal conditions, ubiquitinated and degraded in the cytoplasm by the BCR(KEAP1) complex (PubMed:11035812, PubMed:15601839, PubMed:29018201). In response to oxidative stress, electrophile metabolites inhibit activity of the BCR(KEAP1) complex, promoting nuclear accumulation of NFE2L2/NRF2, heterodimerization with one of the small Maf proteins and binding to ARE elements of cytoprotective target genes (PubMed:19489739, PubMed:29590092). The NFE2L2/NRF2 pathway is also activated in response to selective autophagy: autophagy promotes interaction between KEAP1 and SQSTM1/p62 and subsequent inactivation of the BCR(KEAP1) complex, leading to NFE2L2/NRF2 nuclear accumulation and expression of cytoprotective genes (PubMed:20452972). May also be involved in the transcriptional activation of genes of the beta-globin cluster by mediating enhancer activity of hypersensitive site 2 of the beta-globin locus control region (PubMed:7937919). Phosphorylation of Ser-40 by PKC in response to oxidative stress dissociates NFE2L2 from its cytoplasmic inhibitor KEAP1, promoting its translocation into the nucleus.;Glycation impairs transcription factor activity by preventing heterodimerization with small Maf proteins (PubMed:31398338). Deglycation by FN3K restores activity (PubMed:31398338).;Acetylation at Lys-596 and Lys-599 increases nuclear localization whereas deacetylation by SIRT1 enhances cytoplasmic presence.;Ubiquitinated in the cytoplasm by the BCR(KEAP1) E3 ubiquitin ligase complex leading to its degradation (PubMed:15601839, PubMed:15983046, PubMed:19489739). In response to oxidative stress, electrophile metabolites, such as sulforaphane, modify KEAP1, leading to inhibit activity of the BCR(KEAP1) complex, promoting NFE2L2/NRF2 nuclear accumulation and activity (PubMed:19489739, PubMed:29590092). In response to autophagy, the BCR(KEAP1) complex is inactivated (By similarity). Belongs to the bZIP family. CNC subfamily. Protein processing in endoplasmic reticulum PE1 2 +NX_Q16254 Transcription factor E2F4 413 43960 4.66 0 Nucleoplasm;Nucleus NA Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F4 binds with high affinity to RBL1 and RBL2. In some instances can also bind RB1. Specifically required for multiciliate cell differentiation: together with MCIDAS and E2F5, binds and activate genes required for centriole biogenesis. Differentially phosphorylated in vivo. Belongs to the E2F/DP family. Cell cycle;TGF-beta signaling pathway;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;G0 and Early G1;G1/S-Specific Transcription;Cyclin E associated events during G1/S transition;Cyclin A:Cdk2-associated events at S phase entry;Cyclin D associated events in G1;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;Transcription of E2F targets under negative control by DREAM complex;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1 PE1 16 +NX_Q16270 Insulin-like growth factor-binding protein 7 282 29130 8.25 0 Golgi apparatus;Secreted Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Binds IGF-I and IGF-II with a relatively low affinity. Stimulates prostacyclin (PGI2) production. Stimulates cell adhesion. N-glycosylated. NA Senescence-Associated Secretory Phenotype (SASP);Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 4 +NX_Q16280 Cyclic nucleotide-gated olfactory channel 664 76048 5.88 6 Membrane NA Odorant signal transduction is probably mediated by a G-protein coupled cascade using cAMP as second messenger. The olfactory channel can be shown to be activated by cyclic nucleotides which leads to a depolarization of olfactory sensory neurons. NA Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA2 subfamily. VxPx cargo-targeting to cilium PE2 X +NX_Q16281 Cyclic nucleotide-gated cation channel alpha-3 694 78838 7.56 6 Membrane Achromatopsia 2 Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of cone photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficacy of the channel when coexpressed with CNGB3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones. NA Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA3 subfamily. Olfactory transduction PE1 2 +NX_Q16288 NT-3 growth factor receptor 839 94428 6.12 1 Membrane;Nucleus membrane;Nucleolus NA Receptor tyrosine kinase involved in nervous system and probably heart development. Upon binding of its ligand NTF3/neurotrophin-3, NTRK3 autophosphorylates and activates different signaling pathways, including the phosphatidylinositol 3-kinase/AKT and the MAPK pathways, that control cell survival and differentiation. Ligand-mediated auto-phosphorylation. Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. Neurotrophin signaling pathway;Receptor-type tyrosine-protein phosphatases;NTRK3 as a dependence receptor;Activated NTRK3 signals through RAS;Activated NTRK3 signals through PI3K;Signaling by NTRK3 (TRKC);NTF3 activates NTRK3 signaling;Activated NTRK3 signals through PLCG1 PE1 15 +NX_Q16322 Potassium voltage-gated channel subfamily A member 10 511 57785 4.85 6 Membrane;Nucleoplasm;Cytosol NA Mediates voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. The channel activity is up-regulated by cAMP. NA Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.8/KCNA10 sub-subfamily. Voltage gated Potassium channels PE1 1 +NX_Q16342 Programmed cell death protein 2 344 38592 5.25 0 Nucleoplasm;Nucleus;Cytoskeleton NA May be a DNA-binding protein with a regulatory function. May play an important role in cell death and/or in regulation of cell proliferation. Ubiquitinated by PRKN, promoting proteasomal degradation. NA NA PE1 6 +NX_Q16348 Solute carrier family 15 member 2 729 81783 8.4 12 Cell membrane NA Proton-coupled intake of oligopeptides of 2 to 4 amino acids with a preference for dipeptides (PubMed:7756356). Transports the dipeptide-like aminopeptidase inhibitor bestatin (By similarity). Can also transport the aminocephalosporin antibiotic cefadroxil (By similarity). NA Belongs to the PTR2/POT transporter (TC 2.A.17) family. Proton/oligopeptide cotransporters PE1 3 +NX_Q16352 Alpha-internexin 499 55391 5.34 0 Cytoskeleton NA Class-IV neuronal intermediate filament that is able to self-assemble. It is involved in the morphogenesis of neurons. It may form an independent structural network without the involvement of other neurofilaments or it may cooperate with NF-L to form the filamentous backbone to which NF-M and NF-H attach to form the cross-bridges. O-glycosylated. Belongs to the intermediate filament family. NA PE1 10 +NX_Q16363 Laminin subunit alpha-4 1823 202524 5.89 0 Basement membrane;Cytosol;Cell membrane Cardiomyopathy, dilated 1JJ Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. NA NA Focal adhesion;ECM-receptor interaction;African trypanosomiasis;Toxoplasmosis;Amoebiasis;Pathways in cancer;Small cell lung cancer;ECM proteoglycans;Non-integrin membrane-ECM interactions;Laminin interactions;MET activates PTK2 signaling PE1 6 +NX_Q16378 Proline-rich protein 4 134 15097 6.5 0 Secreted NA NA NA NA NA PE1 12 +NX_Q16384 Protein SSX1 188 21931 9.46 0 NA NA Could act as a modulator of transcription. NA Belongs to the SSX family. NA PE1 X +NX_Q16385 Protein SSX2 188 21620 5.61 0 Nucleus NA Could act as a modulator of transcription. NA Belongs to the SSX family. NA PE1 X +NX_Q16394 Exostosin-1 746 86255 9.16 1 Endoplasmic reticulum membrane;Golgi apparatus membrane Tricho-rhino-phalangeal syndrome 2;Hereditary multiple exostoses 1;Chondrosarcoma Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). NA Belongs to the glycosyltransferase 47 family. Protein modification; protein glycosylation.;Glycosaminoglycan biosynthesis - heparan sulfate;Metabolic pathways;HS-GAG biosynthesis;Defective EXT2 causes exostoses 2;Defective EXT1 causes exostoses 1, TRPS2 and CHDS PE1 8 +NX_Q16401 26S proteasome non-ATPase regulatory subunit 5 504 56196 5.35 0 Nucleoplasm;Cytosol NA Acts as a chaperone during the assembly of the 26S proteasome, specifically of the base subcomplex of the PA700/19S regulatory complex (RC). In the initial step of the base subcomplex assembly is part of an intermediate PSMD5:PSMC2:PSMC1:PSMD2 module which probably assembles with a PSMD10:PSMC4:PSMC5:PAAF1 module followed by dissociation of PSMD5. NA Belongs to the proteasome subunit S5B/HSM3 family. Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 9 +NX_Q16445 Gamma-aminobutyric acid receptor subunit alpha-6 453 51024 8.39 4 Cell membrane;Postsynaptic cell membrane NA GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA6 sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse;GABA receptor activation PE1 5 +NX_Q16473 Putative tenascin-XA 311 33740 5.29 0 NA NA NA NA NA NA PE5 6 +NX_Q16478 Glutamate receptor ionotropic, kainate 5 980 109265 8.54 3 Postsynaptic cell membrane;Nucleoplasm;Cell membrane NA Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds kainate > quisqualate > domoate > L-glutamate >> AMPA >> NMDA = 1S,3R-ACPD. NA Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK5 subfamily. Neuroactive ligand-receptor interaction;Glutamatergic synapse;Activation of Ca-permeable Kainate Receptor PE1 19 +NX_Q16512 Serine/threonine-protein kinase N1 942 103932 5.99 0 Cytoplasm;Cleavage furrow;Cell membrane;Nucleoplasm;Midbody;Endosome;Cytosol;Nucleus NA PKC-related serine/threonine-protein kinase involved in various processes such as regulation of the intermediate filaments of the actin cytoskeleton, cell migration, tumor cell invasion and transcription regulation. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. Regulates the cytoskeletal network by phosphorylating proteins such as VIM and neurofilament proteins NEFH, NEFL and NEFM, leading to inhibit their polymerization. Phosphorylates 'Ser-575', 'Ser-637' and 'Ser-669' of MAPT/Tau, lowering its ability to bind to microtubules, resulting in disruption of tubulin assembly. Acts as a key coactivator of androgen receptor (ANDR)-dependent transcription, by being recruited to ANDR target genes and specifically mediating phosphorylation of 'Thr-11' of histone H3 (H3T11ph), a specific tag for epigenetic transcriptional activation that promotes demethylation of histone H3 'Lys-9' (H3K9me) by KDM4C/JMJD2C. Phosphorylates HDAC5, HDAC7 and HDAC9, leading to impair their import in the nucleus. Phosphorylates 'Thr-38' of PPP1R14A, 'Ser-159', 'Ser-163' and 'Ser-170' of MARCKS, and GFAP. Able to phosphorylate RPS6 in vitro. Autophosphorylated; preferably on serine. Phosphorylated during mitosis.;(Microbial infection) In case of infection, polyubiquitinated by the bacterial E3 ubiquitin-protein ligase SspH1, leading to its proteasomal degradation.;Activated by limited proteolysis with trypsin. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily. Salmonella infection;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;RHO GTPases activate PKNs PE1 19 +NX_Q16513 Serine/threonine-protein kinase N2 984 112035 5.95 0 Cytoplasm;Cleavage furrow;Cell membrane;Cell junction;Membrane;Nucleoplasm;Midbody;Lamellipodium;Centrosome;Cytosol;Nucleus;Cytoskeleton NA (Microbial infection) Phosphorylates HCV NS5B leading to stimulation of HCV RNA replication.;PKC-related serine/threonine-protein kinase and Rho/Rac effector protein that participates in specific signal transduction responses in the cell. Plays a role in the regulation of cell cycle progression, actin cytoskeleton assembly, cell migration, cell adhesion, tumor cell invasion and transcription activation signaling processes. Phosphorylates CTTN in hyaluronan-induced astrocytes and hence decreases CTTN ability to associate with filamentous actin. Phosphorylates HDAC5, therefore lead to impair HDAC5 import. Direct RhoA target required for the regulation of the maturation of primordial junctions into apical junction formation in bronchial epithelial cells. Required for G2/M phases of the cell cycle progression and abscission during cytokinesis in a ECT2-dependent manner. Stimulates FYN kinase activity that is required for establishment of skin cell-cell adhesion during keratinocytes differentiation. Regulates epithelial bladder cells speed and direction of movement during cell migration and tumor cell invasion. Inhibits Akt pro-survival-induced kinase activity. Mediates Rho protein-induced transcriptional activation via the c-fos serum response factor (SRF). Involved in the negative regulation of ciliogenesis (PubMed:27104747). Activated by limited proteolysis with trypsin (By similarity). Proteolytically cleaved by caspase-3 during the induction of apoptotic cell death.;Autophosphorylated. Phosphorylated during mitosis. Phosphorylated by CDK10 (PubMed:27104747). Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily. Salmonella infection;RHO GTPases activate PKNs PE1 1 +NX_Q16514 Transcription initiation factor TFIID subunit 12 161 17924 7.78 0 Nucleus NA TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TAFs components-TIIFD are essential for mediating regulation of RNA polymerase transcription. NA Belongs to the TAF12 family. Basal transcription factors;HATs acetylate histones;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;Regulation of TP53 Activity through Phosphorylation PE1 1 +NX_Q16515 Acid-sensing ion channel 2 512 57709 5.07 2 Cell membrane NA Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Li(+) and K(+). Generates a biphasic current with a fast inactivating and a slow sustained phase. Heteromeric channel assembly seems to modulate. NA Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC2 subfamily. Taste transduction;Stimuli-sensing channels PE1 17 +NX_Q16517 Neuronatin 81 9237 10.17 0 NA NA May participate in the maintenance of segment identity in the hindbrain and pituitary development, and maturation or maintenance of the overall structure of the nervous system. May function as a regulatory subunit of ion channels. NA Belongs to the neuronatin family. NA PE2 20 +NX_Q16518 Retinoid isomerohydrolase 533 60948 6.05 0 Microsome membrane;Cytoplasm;Cell membrane Leber congenital amaurosis 2;Retinitis pigmentosa 20 Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore (PubMed:16116091). Essential for the production of 11-cis retinal for both rod and cone photoreceptors (PubMed:17848510). Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid (PubMed:28874556). The soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis-retinol, a reaction catalyzed by LRAT (By similarity). Palmitoylation by LRAT regulates ligand binding specificity; the palmitoylated form (membrane form) specifically binds all-trans-retinyl-palmitate, while the soluble unpalmitoylated form binds all-trans-retinol (vitamin A) (By similarity). Belongs to the carotenoid oxygenase family. Retinol metabolism;The canonical retinoid cycle in rods (twilight vision) PE1 1 +NX_Q16520 Basic leucine zipper transcriptional factor ATF-like 125 14120 8.82 0 Nucleoplasm;Cytoplasm;Nucleus NA AP-1 family transcription factor that controls the differentiation of lineage-specific cells in the immune system: specifically mediates the differentiation of T-helper 17 cells (Th17), follicular T-helper cells (TfH), CD8(+) dendritic cells and class-switch recombination (CSR) in B-cells. Acts via the formation of a heterodimer with JUNB that recognizes and binds DNA sequence 5'-TGA[CG]TCA-3'. The BATF-JUNB heterodimer also forms a complex with IRF4 (or IRF8) in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF4 (or IRF8) and activation of genes. Controls differentiation of T-helper cells producing interleukin-17 (Th17 cells) by binding to Th17-associated gene promoters: regulates expression of the transcription factor RORC itself and RORC target genes such as IL17 (IL17A or IL17B). Also involved in differentiation of follicular T-helper cells (TfH) by directing expression of BCL6 and MAF. In B-cells, involved in class-switch recombination (CSR) by controlling the expression of both AICDA and of germline transcripts of the intervening heavy-chain region and constant heavy-chain region (I(H)-C(H)). Following infection, can participate in CD8(+) dendritic cell differentiation via interaction with IRF4 and IRF8 to mediate cooperative gene activation. Regulates effector CD8(+) T-cell differentiation by regulating expression of SIRT1. Following DNA damage, part of a differentiation checkpoint that limits self-renewal of hematopoietic stem cells (HSCs): up-regulated by STAT3, leading to differentiation of HSCs, thereby restricting self-renewal of HSCs (By similarity). Phosphorylated.;Phosphorylated on serine and threonine residues and at least one tyrosine residue. Phosphorylation at Ser-43 inhibit DNA binding activity and transforms it as a negative regulator of AP-1 mediated transcription (By similarity). Belongs to the bZIP family. Interleukin-4 and Interleukin-13 signaling PE1 14 +NX_Q16526 Cryptochrome-1 586 66395 8.27 0 Cytoplasm;Nucleus membrane;Nucleoplasm;Nucleus;Cytoskeleton Delayed sleep phase syndrome Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. CRY1 and CRY2 have redundant functions but also differential and selective contributions at least in defining the pace of the SCN circadian clock and its circadian transcriptional outputs. More potent transcriptional repressor in cerebellum and liver than CRY2, though more effective in lengthening the period of the SCN oscillator. On its side, CRY2 seems to play a critical role in tuning SCN circadian period by opposing the action of CRY1. With CRY2, is dispensable for circadian rhythm generation but necessary for the development of intercellular networks for rhythm synchrony. Capable of translocating circadian clock core proteins such as PER proteins to the nucleus. Interacts with CLOCK-ARNTL/BMAL1 independently of PER proteins and is found at CLOCK-ARNTL/BMAL1-bound sites, suggesting that CRY may act as a molecular gatekeeper to maintain CLOCK-ARNTL/BMAL1 in a poised and repressed state until the proper time for transcriptional activation. Represses the CLOCK-ARNTL/BMAL1 induced transcription of BHLHE40/DEC1. Represses the CLOCK-ARNTL/BMAL1 induced transcription of ATF4, MTA1, KLF10 and NAMPT (By similarity). May repress circadian target genes expression in collaboration with HDAC1 and HDAC2 through histone deacetylation. Mediates the clock-control activation of ATR and modulates ATR-mediated DNA damage checkpoint. In liver, mediates circadian regulation of cAMP signaling and gluconeogenesis by binding to membrane-coupled G proteins and blocking glucagon-mediated increases in intracellular cAMP concentrations and CREB1 phosphorylation. Inhibits hepatic gluconeogenesis by decreasing nuclear FOXO1 levels that downregulates gluconeogenic gene expression (By similarity). Besides its role in the maintenance of the circadian clock, is also involved in the regulation of other processes. Represses glucocorticoid receptor NR3C1/GR-induced transcriptional activity by binding to glucocorticoid response elements (GREs). Plays a key role in glucose and lipid metabolism modulation, in part, through the transcriptional regulation of genes involved in these pathways, such as LEP or ACSL4 (By similarity). Represses PPARD and its target genes in the skeletal muscle and limits exercise capacity (By similarity). Plays an essential role in the generation of circadian rhythms in the retina (By similarity). Represses the transcriptional activity of NR1I2 (By similarity). Undergoes autophagy-mediated degradation in the liver in a time-dependent manner. Autophagic degradation of CRY1 (an inhibitor of gluconeogenesis) occurs during periods of reduced feeding allowing induction of gluconeogenesis and maintenance of blood glucose levels.;Phosphorylation on Ser-247 by MAPK is important for the inhibition of CLOCK-ARNTL/BMAL1-mediated transcriptional activity. Phosphorylation by CSNK1E requires interaction with PER1 or PER2. Phosphorylation at Ser-71 and Ser-280 by AMPK decreases protein stability. Phosphorylation at Ser-568 exhibits a robust circadian rhythm with a peak at CT8, increases protein stability, prevents SCF(FBXL3)-mediated degradation and is antagonized by interaction with PRKDC.;Ubiquitinated by the SCF(FBXL3) and SCF(FBXL21) complexes, regulating the balance between degradation and stabilization. The SCF(FBXL3) complex is mainly nuclear and mediates ubiquitination and subsequent degradation of CRY1. In contrast, cytoplasmic SCF(FBXL21) complex-mediated ubiquitination leads to stabilize CRY1 and counteract the activity of the SCF(FBXL3) complex. The SCF(FBXL3) and SCF(FBXL21) complexes probably mediate ubiquitination at different Lys residues. Ubiquitination at Lys-11 and Lys-107 are specifically ubiquitinated by the SCF(FBXL21) complex but not by the SCF(FBXL3) complex. Ubiquitination may be inhibited by PER2 (PubMed:17463251, PubMed:22798407, PubMed:27565346). Deubiquitinated by USP7 (By similarity). Belongs to the DNA photolyase class-1 family. Circadian rhythm - mammal;Circadian Clock PE1 12 +NX_Q16527 Cysteine and glycine-rich protein 2 193 20954 8.95 0 Nucleus NA Drastically down-regulated in response to PDGF-BB or cell injury, that promote smooth muscle cell proliferation and dedifferentiation. Seems to play a role in the development of the embryonic vascular system. NA NA NA PE1 12 +NX_Q16531 DNA damage-binding protein 1 1140 126968 5.14 0 Cytoplasm;Nucleoplasm;Nucleus NA Required for DNA repair. Binds to DDB2 to form the UV-damaged DNA-binding protein complex (the UV-DDB complex). The UV-DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to function as a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. The functional specificity of the DCX E3 ubiquitin-protein ligase complex is determined by the variable substrate recognition component recruited by DDB1. DCX(DDB2) (also known as DDB1-CUL4-ROC1, CUL4-DDB-ROC1 and CUL4-DDB-RBX1) may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage. The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair. DCX(DDB2) also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER. DCX(DTL) plays a role in PCNA-dependent polyubiquitination of CDT1 and MDM2-dependent ubiquitination of TP53 in response to radiation-induced DNA damage and during DNA replication. DCX(ERCC8) (the CSA complex) plays a role in transcription-coupled repair (TCR). May also play a role in ubiquitination of CDKN1B/p27kip when associated with CUL4 and SKP2. The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1 (PubMed:26431207). DDB1-mediated CRY1 degradation promotes FOXO1 protein stability and FOXO1-mediated gluconeogenesis in the liver (By similarity). Ubiquitinated by CUL4A. Subsequently degraded by ubiquitin-dependent proteolysis.;Phosphorylated by ABL1.;DDB1 is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255) Belongs to the DDB1 family. Protein modification; protein ubiquitination.;Nucleotide excision repair;Ubiquitin mediated proteolysis;Nucleotide excision repair;Ubiquitin mediated proteolysis;Recognition of DNA damage by PCNA-containing replication complex;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;DNA Damage Recognition in GG-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER;Neddylation PE1 11 +NX_Q16533 snRNA-activating protein complex subunit 1 368 42994 9.53 0 Nucleoplasm;Nucleus;Nucleolus NA Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box. NA NA RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 3 Promoter;RNA polymerase II transcribes snRNA genes PE1 14 +NX_Q16534 Hepatic leukemia factor 295 33199 7.76 0 Nucleoplasm;Nucleus NA NA NA Belongs to the bZIP family. PAR subfamily. NA PE2 17 +NX_Q16537 Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform 467 54699 6.51 0 Cytoplasm;Cytosol NA The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. Phosphorylated on serine residues. Belongs to the phosphatase 2A regulatory subunit B56 family. mRNA surveillance pathway;Oocyte meiosis;Wnt signaling pathway;Dopaminergic synapse;Degradation of beta-catenin by the destruction complex;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Negative regulation of MAPK pathway;RAF activation;Disassembly of the destruction complex and recruitment of AXIN to the membrane;CTLA4 inhibitory signaling;Beta-catenin phosphorylation cascade;Misspliced GSK3beta mutants stabilize beta-catenin;S33 mutants of beta-catenin aren't phosphorylated;S37 mutants of beta-catenin aren't phosphorylated;S45 mutants of beta-catenin aren't phosphorylated;T41 mutants of beta-catenin aren't phosphorylated;APC truncation mutants have impaired AXIN binding;AXIN missense mutants destabilize the destruction complex;Truncations of AMER1 destabilize the destruction complex;Platelet sensitization by LDL;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 14 +NX_Q16538 Probable G-protein coupled receptor 162 588 63930 8.83 7 Centriolar satellite;Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 12 +NX_Q16539 Mitogen-activated protein kinase 14 360 41293 5.48 0 Cytoplasm;Cytosol;Nucleus speckle;Nucleus NA (Microbial infection) Activated by phosphorylation by M.tuberculosis EsxA in T-cells leading to inhibition of IFN-gamma production; phosphorylation is apparent within 15 minute and is inhibited by kinase-specific inhibitors SB203580 and siRNA (PubMed:21586573).;Activation is stimulated by mitogens and oxidative stress and only poorly phosphorylates ELK1 and ATF2.;Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK14 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstream kinases which are activated through phosphorylation and further phosphorylate additional targets. RPS6KA5/MSK1 and RPS6KA4/MSK2 can directly phosphorylate and activate transcription factors such as CREB1, ATF1, the NF-kappa-B isoform RELA/NFKB3, STAT1 and STAT3, but can also phosphorylate histone H3 and the nucleosomal protein HMGN1. RPS6KA5/MSK1 and RPS6KA4/MSK2 play important roles in the rapid induction of immediate-early genes in response to stress or mitogenic stimuli, either by inducing chromatin remodeling or by recruiting the transcription machinery. On the other hand, two other kinase targets, MAPKAPK2/MK2 and MAPKAPK3/MK3, participate in the control of gene expression mostly at the post-transcriptional level, by phosphorylating ZFP36 (tristetraprolin) and ELAVL1, and by regulating EEF2K, which is important for the elongation of mRNA during translation. MKNK1/MNK1 and MKNK2/MNK2, two other kinases activated by p38 MAPKs, regulate protein synthesis by phosphorylating the initiation factor EIF4E2. MAPK14 interacts also with casein kinase II, leading to its activation through autophosphorylation and further phosphorylation of TP53/p53. In the cytoplasm, the p38 MAPK pathway is an important regulator of protein turnover. For example, CFLAR is an inhibitor of TNF-induced apoptosis whose proteasome-mediated degradation is regulated by p38 MAPK phosphorylation. In a similar way, MAPK14 phosphorylates the ubiquitin ligase SIAH2, regulating its activity towards EGLN3. MAPK14 may also inhibit the lysosomal degradation pathway of autophagy by interfering with the intracellular trafficking of the transmembrane protein ATG9. Another function of MAPK14 is to regulate the endocytosis of membrane receptors by different mechanisms that impinge on the small GTPase RAB5A. In addition, clathrin-mediated EGFR internalization induced by inflammatory cytokines and UV irradiation depends on MAPK14-mediated phosphorylation of EGFR itself as well as of RAB5A effectors. Ectodomain shedding of transmembrane proteins is regulated by p38 MAPKs as well. In response to inflammatory stimuli, p38 MAPKs phosphorylate the membrane-associated metalloprotease ADAM17. Such phosphorylation is required for ADAM17-mediated ectodomain shedding of TGF-alpha family ligands, which results in the activation of EGFR signaling and cell proliferation. Another p38 MAPK substrate is FGFR1. FGFR1 can be translocated from the extracellular space into the cytosol and nucleus of target cells, and regulates processes such as rRNA synthesis and cell growth. FGFR1 translocation requires p38 MAPK activation. In the nucleus, many transcription factors are phosphorylated and activated by p38 MAPKs in response to different stimuli. Classical examples include ATF1, ATF2, ATF6, ELK1, PTPRH, DDIT3, TP53/p53 and MEF2C and MEF2A. The p38 MAPKs are emerging as important modulators of gene expression by regulating chromatin modifiers and remodelers. The promoters of several genes involved in the inflammatory response, such as IL6, IL8 and IL12B, display a p38 MAPK-dependent enrichment of histone H3 phosphorylation on 'Ser-10' (H3S10ph) in LPS-stimulated myeloid cells. This phosphorylation enhances the accessibility of the cryptic NF-kappa-B-binding sites marking promoters for increased NF-kappa-B recruitment. Phosphorylates CDC25B and CDC25C which is required for binding to 14-3-3 proteins and leads to initiation of a G2 delay after ultraviolet radiation. Phosphorylates TIAR following DNA damage, releasing TIAR from GADD45A mRNA and preventing mRNA degradation. The p38 MAPKs may also have kinase-independent roles, which are thought to be due to the binding to targets in the absence of phosphorylation. Protein O-Glc-N-acylation catalyzed by the OGT is regulated by MAPK14, and, although OGT does not seem to be phosphorylated by MAPK14, their interaction increases upon MAPK14 activation induced by glucose deprivation. This interaction may regulate OGT activity by recruiting it to specific targets such as neurofilament H, stimulating its O-Glc-N-acylation. Required in mid-fetal development for the growth of embryo-derived blood vessels in the labyrinth layer of the placenta. Also plays an essential role in developmental and stress-induced erythropoiesis, through regulation of EPO gene expression.;May play a role in the early onset of apoptosis. Phosphorylates S100A9 at 'Thr-113'. Acetylated at Lys-53 and Lys-152 by KAT2B and EP300. Acetylation at Lys-53 increases the affinity for ATP and enhances kinase activity. Lys-53 and Lys-152 are deacetylated by HDAC3.;Ubiquitinated. Ubiquitination leads to degradation by the proteasome pathway.;Dually phosphorylated on Thr-180 and Tyr-182 by the MAP2Ks MAP2K3/MKK3, MAP2K4/MKK4 and MAP2K6/MKK6 in response to inflammatory citokines, environmental stress or growth factors, which activates the enzyme. Dual phosphorylation can also be mediated by TAB1-mediated autophosphorylation. TCR engagement in T-cells also leads to Tyr-323 phosphorylation by ZAP70. Dephosphorylated and inactivated by DUPS1, DUSP10 and DUSP16. PPM1D also mediates dephosphorylation and inactivation of MAPK14 (PubMed:21283629).;MAPK14 is phosphorylated by MAP2K7 Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. MAPK signaling pathway;VEGF signaling pathway;Osteoclast differentiation;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;T cell receptor signaling pathway;Fc epsilon RI signaling pathway;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Dopaminergic synapse;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Amyotrophic lateral sclerosis (ALS);Epithelial cell signaling in Helicobacter pylori infection;Shigellosis;Salmonella infection;Pertussis;Leishmaniasis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Tuberculosis;Hepatitis C;Influenza A;DSCAM interactions;NOD1/2 Signaling Pathway;Oxidative Stress Induced Senescence;activated TAK1 mediates p38 MAPK activation;VEGFA-VEGFR2 Pathway;ADP signalling through P2Y purinoceptor 1;Activation of PPARGC1A (PGC-1alpha) by phosphorylation;KSRP (KHSRP) binds and destabilizes mRNA;p38MAPK events;Platelet sensitization by LDL;RHO GTPases Activate NADPH Oxidases;ERK/MAPK targets;Activation of the AP-1 family of transcription factors;Regulation of TP53 Activity through Phosphorylation;Neutrophil degranulation;Myogenesis PE1 6 +NX_Q16540 39S ribosomal protein L23, mitochondrial 153 17781 9.69 0 Mitochondrion;Nucleolus NA NA NA Belongs to the universal ribosomal protein uL23 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 11 +NX_Q16543 Hsp90 co-chaperone Cdc37 378 44468 5.17 0 Cytoplasm;Cytosol;Nucleus NA Co-chaperone that binds to numerous kinases and promotes their interaction with the Hsp90 complex, resulting in stabilization and promotion of their activity (PubMed:8666233). Inhibits HSP90AA1 ATPase activity (PubMed:23569206). Constitutively sumoylated by UBE2I. Belongs to the CDC37 family. Signaling by ERBB2;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Constitutive Signaling by EGFRvIII;Downregulation of ERBB2 signaling PE1 19 +NX_Q16548 Bcl-2-related protein A1 175 20132 5.32 0 Cytoplasm NA Retards apoptosis induced by IL-3 deprivation. May function in the response of hemopoietic cells to external signals and in maintaining endothelial survival during infection (By similarity). Can inhibit apoptosis induced by serum starvation in the mammary epithelial cell line HC11 (By similarity). NA Belongs to the Bcl-2 family. NA PE1 15 +NX_Q16549 Proprotein convertase subtilisin/kexin type 7 785 86247 5.51 1 trans-Golgi network membrane NA Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive secretory pathway. N-glycosylated.;Cysteine residues in the cytoplasmic tail are probably palmitoylated. Belongs to the peptidase S8 family. NA PE1 11 +NX_Q16552 Interleukin-17A 155 17504 8.82 0 Secreted NA Ligand for IL17RA and IL17RC (PubMed:17911633). The heterodimer formed by IL17A and IL17F is a ligand for the heterodimeric complex formed by IL17RA and IL17RC (PubMed:18684971). Involved in inducing stromal cells to produce proinflammatory and hematopoietic cytokines (PubMed:8676080). Found both in glycosylated and nonglycosylated forms. Belongs to the IL-17 family. Cytokine-cytokine receptor interaction;Rheumatoid arthritis;Interleukin-17 signaling;Interleukin-4 and Interleukin-13 signaling PE1 6 +NX_Q16553 Lymphocyte antigen 6E 131 13507 8.06 0 Cell membrane NA Involved in T-cell development. Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits alpha-3:beta-4-containing nAChRs maximum response. NA NA Post-translational modification: synthesis of GPI-anchored proteins PE1 8 +NX_Q16555 Dihydropyrimidinase-related protein 2 572 62294 5.95 0 Membrane;Cytosol;Cell membrane;Cytoskeleton NA Plays a role in neuronal development and polarity, as well as in axon growth and guidance, neuronal growth cone collapse and cell migration. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. May play a role in endocytosis. Phosphorylation at Thr-514 by GSK3B abolishes tubulin-binding leading to destabilization of microtubule assembly in axons and neurodegeneration (By similarity). Phosphorylation by DYRK2 at Ser-522 is required for subsequent phosphorylation by GSK3B.;3F4, a monoclonal antibody which strongly stains neurofibrillary tangles in Alzheimer disease brains, specifically labels DPYSL2 when phosphorylated on Ser-518, Ser-522 and Thr-509.;DPYSL2 is phosphorylated by FES;DPYSL2 is phosphorylated by YES1 (Phosphotyrosine:PTM-0255) Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family. Axon guidance;Recycling pathway of L1;CRMPs in Sema3A signaling PE1 8 +NX_Q16557 Pregnancy-specific beta-1-glycoprotein 3 428 47945 8.74 0 Secreted NA NA NA Belongs to the immunoglobulin superfamily. CEA family. Cell surface interactions at the vascular wall PE1 19 +NX_Q16558 Calcium-activated potassium channel subunit beta-1 191 21797 9.12 2 Membrane NA Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Increases the apparent Ca(2+)/voltage sensitivity of the KCNMA1 channel. It also modifies KCNMA1 channel kinetics and alters its pharmacological properties. It slows down the activation and the deactivation kinetics of the channel. Acts as a negative regulator of smooth muscle contraction by enhancing the calcium sensitivity to KCNMA1. Its presence is also a requirement for internal binding of the KCNMA1 channel opener dehydrosoyasaponin I (DHS-1) triterpene glycoside and for external binding of the agonist hormone 17-beta-estradiol (E2). Increases the binding activity of charybdotoxin (CTX) toxin to KCNMA1 peptide blocker by increasing the CTX association rate and decreasing the dissociation rate. N-glycosylated. Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB1 subfamily. Vascular smooth muscle contraction;Ca2+ activated K+ channels;cGMP effects PE1 5 +NX_Q16559 T-cell acute lymphocytic leukemia protein 2 108 12291 10.48 0 Cytosol NA NA TAL2 is phosphorylated by MAPK7 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA NA PE1 9 +NX_Q16560 U11/U12 small nuclear ribonucleoprotein 35 kDa protein 246 29450 9.86 0 Nucleus;Nucleolus NA NA NA NA mRNA Splicing - Minor Pathway PE1 12 +NX_Q16563 Synaptophysin-like protein 1 259 28565 8.69 4 Cytoplasmic vesicle membrane;Melanosome NA NA NA Belongs to the synaptophysin/synaptobrevin family. NA PE1 7 +NX_Q16566 Calcium/calmodulin-dependent protein kinase type IV 473 51926 5.6 0 Nucleus;Cytoplasm;Nucleoplasm;Nucleolus NA Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK4 signaling cascade and regulates, mainly by phosphorylation, the activity of several transcription activators, such as CREB1, MEF2D, JUN and RORA, which play pivotal roles in immune response, inflammation, and memory consolidation. In the thymus, regulates the CD4(+)/CD8(+) double positive thymocytes selection threshold during T-cell ontogeny. In CD4 memory T-cells, is required to link T-cell antigen receptor (TCR) signaling to the production of IL2, IFNG and IL4 (through the regulation of CREB and MEF2). Regulates the differentiation and survival phases of osteoclasts and dendritic cells (DCs). Mediates DCs survival by linking TLR4 and the regulation of temporal expression of BCL2. Phosphorylates the transcription activator CREB1 on 'Ser-133' in hippocampal neuron nuclei and contribute to memory consolidation and long term potentiation (LTP) in the hippocampus. Can activate the MAP kinases MAPK1/ERK2, MAPK8/JNK1 and MAPK14/p38 and stimulate transcription through the phosphorylation of ELK1 and ATF2. Can also phosphorylate in vitro CREBBP, PRM2, MEF2A and STMN1/OP18. Glycosylation at Ser-189 modulates the phosphorylation of CaMK4 at Thr-200 and negatively regulates its activity toward CREB1 in basal conditions and during early inomycin stimulation.;Phosphorylated by CaMKK1 and CaMKK2 on Thr-200. Dephosphorylated by protein phosphatase 2A. Autophosphorylated on Ser-12 and Ser-13. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. Calcium signaling pathway;Osteoclast differentiation;Long-term potentiation;Neurotrophin signaling pathway;Cholinergic synapse;CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde;Transcriptional activation of mitochondrial biogenesis;CaMK IV-mediated phosphorylation of CREB;Regulation of MECP2 expression and activity;Loss of phosphorylation of MECP2 at T308;Negative regulation of NMDA receptor-mediated neuronal transmission PE1 5 +NX_Q16568 Cocaine- and amphetamine-regulated transcript protein 116 12829 8.55 0 Secreted NA Satiety factor closely associated with the actions of leptin and neuropeptide y; this anorectic peptide inhibits both normal and starvation-induced feeding and completely blocks the feeding response induced by neuropeptide Y and regulated by leptin in the hypothalamus. It promotes neuronal development and survival in vitro. NA Belongs to the CART family. NA PE1 5 +NX_Q16570 Atypical chemokine receptor 1 336 35553 6.1 7 Membrane;Recycling endosome;Early endosome NA Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Has a promiscuous chemokine-binding profile, interacting with inflammatory chemokines of both the CXC and the CC subfamilies but not with homeostatic chemokines. Acts as a receptor for chemokines including CCL2, CCL5, CCL7, CCL11, CCL13, CCL14, CCL17, CXCL5, CXCL6, IL8/CXCL8, CXCL11, GRO, RANTES, MCP-1, TARC and also for the malaria parasites P.vivax and P.knowlesi. May regulate chemokine bioavailability and, consequently, leukocyte recruitment through two distinct mechanisms: when expressed in endothelial cells, it sustains the abluminal to luminal transcytosis of tissue-derived chemokines and their subsequent presentation to circulating leukocytes; when expressed in erythrocytes, serves as blood reservoir of cognate chemokines but also as a chemokine sink, buffering potential surges in plasma chemokine levels. NA Belongs to the G-protein coupled receptor 1 family. Atypical chemokine receptor subfamily. Malaria;Peptide ligand-binding receptors PE1 1 +NX_Q16572 Vesicular acetylcholine transporter 532 56903 5.81 12 Membrane Myasthenic syndrome, congenital, 21, presynaptic Involved in acetylcholine transport into synaptic vesicles. NA Belongs to the major facilitator superfamily. Vesicular transporter family. Synaptic vesicle cycle;Cholinergic synapse;Acetylcholine Neurotransmitter Release Cycle;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 10 +NX_Q16576 Histone-binding protein RBBP7 425 47820 4.89 0 Nucleus NA Core histone-binding subunit that may target chromatin remodeling factors, histone acetyltransferases and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the type B histone acetyltransferase (HAT) complex, which is required for chromatin assembly following DNA replication; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome remodeling and histone deacetylase complex (the NuRD complex), which promotes transcriptional repression by histone deacetylation and nucleosome remodeling; and the PRC2/EED-EZH2 complex, which promotes repression of homeotic genes during development; and the NURF (nucleosome remodeling factor) complex. NA Belongs to the WD repeat RBAP46/RBAP48/MSI1 family. PKMTs methylate histone lysines;RMTs methylate histone arginines;HATs acetylate histones;RNA Polymerase I Transcription Initiation;Oxidative Stress Induced Senescence;PRC2 methylates histones and DNA;HDACs deacetylate histones;Deposition of new CENPA-containing nucleosomes at the centromere;Activation of anterior HOX genes in hindbrain development during early embryogenesis;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Regulation of TP53 Activity through Acetylation;Neddylation;Transcriptional Regulation by E2F6;Regulation of PTEN gene transcription PE1 X +NX_Q16581 C3a anaphylatoxin chemotactic receptor 482 53864 6.2 7 Cell membrane NA Receptor for the chemotactic and inflammatory peptide anaphylatoxin C3a. This receptor stimulates chemotaxis, granule enzyme release and superoxide anion production. O-glycosylated.;Among the sulfation sites Tyr-174 is essential for binding of C3a anaphylatoxin. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Complement and coagulation cascades;Staphylococcus aureus infection;G alpha (i) signalling events;Peptide ligand-binding receptors;Regulation of Complement cascade;Neutrophil degranulation PE1 12 +NX_Q16584 Mitogen-activated protein kinase kinase kinase 11 847 92688 8.4 0 Cytosol;Centriolar satellite;Centrosome NA Activates the JUN N-terminal pathway. Required for serum-stimulated cell proliferation and for mitogen and cytokine activation of MAPK14 (p38), MAPK3 (ERK) and MAPK8 (JNK1) through phosphorylation and activation of MAP2K4/MKK4 and MAP2K7/MKK7. Plays a role in mitogen-stimulated phosphorylation and activation of BRAF, but does not phosphorylate BRAF directly. Influences microtubule organization during the cell cycle. Autophosphorylation on serine and threonine residues within the activation loop plays a role in enzyme activation. Thr-277 is likely to be the main autophosphorylation site. Phosphorylation of Ser-555 and Ser-556 is induced by CDC42. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. MAPK signaling pathway;RAF activation;Signaling by moderate kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 11 +NX_Q16585 Beta-sarcoglycan 318 34777 8.86 1 Cytosol;Sarcolemma;Cytoskeleton Muscular dystrophy, limb-girdle, autosomal recessive 4 Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. Disulfide bonds are present. Belongs to the sarcoglycan beta/delta/gamma/zeta family. Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Viral myocarditis PE1 4 +NX_Q16586 Alpha-sarcoglycan 387 42875 5.5 1 Sarcolemma;Cytoskeleton Muscular dystrophy, limb-girdle, autosomal recessive 3 Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. NA Belongs to the sarcoglycan alpha/epsilon family. Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Viral myocarditis PE1 17 +NX_Q16587 Zinc finger protein 74 644 72207 8.77 0 Nucleoplasm;Nucleus;Cytoskeleton NA May play a role in RNA metabolism. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 22 +NX_Q16589 Cyclin-G2 344 38866 5.33 0 Cytoplasm;Nucleoplasm;Cytosol NA May play a role in growth regulation and in negative regulation of cell cycle progression. NA Belongs to the cyclin family. Cyclin G subfamily. p53 signaling pathway;FOXO-mediated transcription of cell cycle genes PE1 4 +NX_Q16594 Transcription initiation factor TFIID subunit 9 264 28974 8.77 0 Nucleus NA Essential for cell viability. TAF9 and TAF9B are involved in transcriptional activation as well as repression of distinct but overlapping sets of genes. May have a role in gene regulation associated with apoptosis. TAFs are components of the transcription factor IID (TFIID) complex, the TBP-free TAFII complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex. TFIID or TFTC are essential for the regulation of RNA polymerase II-mediated transcription. NA Belongs to the TAF9 family. Ribosome biogenesis in eukaryotes;Basal transcription factors;HATs acetylate histones;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA polymerase II transcribes snRNA genes;Regulation of TP53 Activity through Phosphorylation PE1 5 +NX_Q16595 Frataxin, mitochondrial 210 23135 8.8 0 Cytosol;Mitochondrion Friedreich ataxia Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1. Processed in two steps by mitochondrial processing peptidase (MPP). MPP first cleaves the precursor to intermediate form and subsequently converts the intermediate to yield frataxin mature form (frataxin(81-210)) which is the predominant form. The additional forms, frataxin(56-210) and frataxin(78-210), seem to be produced when the normal maturation process is impaired; their physiological relevance is unsure.;FXN is phosphorylated by PASK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the frataxin family. Mitochondrial protein import;Mitochondrial iron-sulfur cluster biogenesis PE1 9 +NX_Q16600 Zinc finger protein 239 458 51591 7.71 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 10 +NX_Q16602 Calcitonin gene-related peptide type 1 receptor 461 52929 6.27 7 Cell membrane NA Receptor for calcitonin-gene-related peptide (CGRP) together with RAMP1 and receptor for adrenomedullin together with RAMP3 (By similarity). Receptor for adrenomedullin together with RAMP2. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. NA Belongs to the G-protein coupled receptor 2 family. Neuroactive ligand-receptor interaction;Vascular smooth muscle contraction;G alpha (s) signalling events;Calcitonin-like ligand receptors PE1 2 +NX_Q16609 Putative apolipoprotein(a)-like protein 2 132 14886 5.21 0 Secreted NA NA NA NA NA PE5 6 +NX_Q16610 Extracellular matrix protein 1 540 60674 6.25 0 Nucleoplasm;Cytosol;Extracellular matrix Lipoid proteinosis Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity. NA NA Platelet degranulation PE1 1 +NX_Q16611 Bcl-2 homologous antagonist/killer 211 23409 5.66 1 Mitochondrion outer membrane NA Plays a role in the mitochondrial apoptosic process. Upon arrival of cell death signals, promotes mitochondrial outer membrane (MOM) permeabilization by oligomerizing to form pores within the MOM. This releases apoptogenic factors into the cytosol, including cytochrome c, promoting the activation of caspase 9 which in turn processes and activates the effector caspases. NA Belongs to the Bcl-2 family. Protein processing in endoplasmic reticulum;Release of apoptotic factors from the mitochondria;Activation and oligomerization of BAK protein PE1 6 +NX_Q16612 Neuronal regeneration-related protein 68 7909 9.16 0 Cytoplasm;Cytoplasmic vesicle NA May have roles in neural function. Ectopic expression augments motility of gliomas. Promotes also axonal regeneration (By similarity). May also have functions in cellular differentiation (By similarity). Induces differentiation of fibroblast into myofibroblast and myofibroblast ameboid migration. Increases retinoic-acid regulation of lipid-droplet biogenesis (By similarity). Down-regulates the expression of TGFB1 and TGFB2 but not of TGFB3 (By similarity). May play a role in the regulation of alveolar generation. Phosphorylated on Ser-59. Phosphorylation decreases stability and activity. NA NA PE1 5 +NX_Q16613 Serotonin N-acetyltransferase 207 23344 7.2 0 Cytoplasm;Cytosol NA Controls the night/day rhythm of melatonin production in the pineal gland. Catalyzes the N-acetylation of serotonin into N-acetylserotonin, the penultimate step in the synthesis of melatonin. CAMP-dependent phosphorylation on both N-terminal Thr-31 and C-terminal Ser-205 regulates AANAT activity by promoting interaction with 14-3-3 proteins. Belongs to the acetyltransferase family. AANAT subfamily. Aromatic compound metabolism; melatonin biosynthesis; melatonin from serotonin: step 1/2.;Tryptophan metabolism;Metabolic pathways;Serotonin and melatonin biosynthesis PE1 17 +NX_Q16617 Protein NKG7 165 17665 5.88 4 Cytoplasmic vesicle;Cytoplasmic granule membrane;Cell membrane NA NA NA Belongs to the PMP-22/EMP/MP20 family. NA PE1 19 +NX_Q16619 Cardiotrophin-1 201 21227 9.18 0 Secreted NA Induces cardiac myocyte hypertrophy in vitro. Binds to and activates the ILST/gp130 receptor. NA Belongs to the IL-6 superfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;IL-6-type cytokine receptor ligand interactions PE1 16 +NX_Q16620 BDNF/NT-3 growth factors receptor 822 91999 6.01 1 Cell membrane;Endosome membrane;Postsynaptic density;Early endosome membrane;Dendrite;Cytosol;Axon;Perinuclear region Obesity, hyperphagia, and developmental delay;Epileptic encephalopathy, early infantile, 58 Receptor tyrosine kinase involved in the development and the maturation of the central and the peripheral nervous systems through regulation of neuron survival, proliferation, migration, differentiation, and synapse formation and plasticity (By similarity). Receptor for BDNF/brain-derived neurotrophic factor and NTF4/neurotrophin-4. Alternatively can also bind NTF3/neurotrophin-3 which is less efficient in activating the receptor but regulates neuron survival through NTRK2 (PubMed:7574684, PubMed:15494731). Upon ligand-binding, undergoes homodimerization, autophosphorylation and activation (PubMed:15494731). Recruits, phosphorylates and/or activates several downstream effectors including SHC1, FRS2, SH2B1, SH2B2 and PLCG1 that regulate distinct overlapping signaling cascades. Through SHC1, FRS2, SH2B1, SH2B2 activates the GRB2-Ras-MAPK cascade that regulates for instance neuronal differentiation including neurite outgrowth. Through the same effectors controls the Ras-PI3 kinase-AKT1 signaling cascade that mainly regulates growth and survival. Through PLCG1 and the downstream protein kinase C-regulated pathways controls synaptic plasticity. Thereby, plays a role in learning and memory by regulating both short term synaptic function and long-term potentiation. PLCG1 also leads to NF-Kappa-B activation and the transcription of genes involved in cell survival. Hence, it is able to suppress anoikis, the apoptosis resulting from loss of cell-matrix interactions. May also play a role in neutrophin-dependent calcium signaling in glial cells and mediate communication between neurons and glia. Is not phosphorylated.;Ubiquitinated. Undergoes polyubiquitination upon activation; regulated by NGFR. Ubiquitination regulates the internalization of the receptor (By similarity).;Phosphorylated. Undergoes ligand-mediated autophosphorylation that is required for interaction with SHC1 and PLCG1 and other downstream effectors. Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. MAPK signaling pathway;Neurotrophin signaling pathway;NGF-independant TRKA activation;Activated NTRK2 signals through RAS;Activated NTRK2 signals through FRS2 and FRS3;Activated NTRK2 signals through CDK5;NTRK2 activates RAC1;NTF4 activates NTRK2 (TRKB) signaling;Activated NTRK2 signals through PLCG1;Activated NTRK2 signals through PI3K;Activated NTRK2 signals through FYN;BDNF activates NTRK2 (TRKB) signaling;NTF3 activates NTRK2 (TRKB) signaling PE1 9 +NX_Q16621 Transcription factor NF-E2 45 kDa subunit 373 41473 4.89 0 Cytoplasm;Nucleoplasm;PML body;Cytoskeleton NA Component of the NF-E2 complex essential for regulating erythroid and megakaryocytic maturation and differentiation. Binds to the hypersensitive site 2 (HS2) of the beta-globin control region (LCR). This subunit (NFE2) recognizes the TCAT/C sequence of the AP-1-like core palindrome present in a number of erythroid and megakaryocytic gene promoters. Requires MAFK or other small MAF proteins for binding to the NF-E2 motif. May play a role in all aspects of hemoglobin production from globin and heme synthesis to procurement of iron. Sumoylated. Sumoylation is required for translocation to nuclear bodies PODs, anchoring to the gene loci, and transactivation of the beta-globin gene.;Ubiquitinated mainly by 'Lys63'-linked ubiquitin. Polyubiquitination with 'Lys63'-linked ubiquitin by ITCH retains NFE2 in the cytoplasm preventing its transactivation activity. In undifferentiated erythrocyte, ubiquitinated after MAPK8-mediatd phosphorylation leading to protein degradation (By similarity).;Phosphorylated on serine residues. In undifferentiated erythrocytes, phosphorylated by MAPK8 which then leads to ubiquitination and protein degradation. Belongs to the bZIP family. CNC subfamily. Factors involved in megakaryocyte development and platelet production;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 12 +NX_Q16623 Syntaxin-1A 288 33023 5.14 1 Secreted;Synaptic vesicle membrane;Cell membrane;Synaptosome NA Plays an essential role in hormone and neurotransmitter calcium-dependent exocytosis and endocytosis (PubMed:26635000). Part of the SNARE (Soluble NSF Attachment Receptor) complex composed of SNAP25, STX1A and VAMP2 which mediates the fusion of synaptic vesicles with the presynaptic plasma membrane. STX1A and SNAP25 are localized on the plasma membrane while VAMP2 resides in synaptic vesicles. The pairing of the three SNAREs from the N-terminal SNARE motifs to the C-terminal anchors leads to the formation of the SNARE complex, which brings membranes into close proximity and results in final fusion. Participates in the calcium-dependent regulation of acrosomal exocytosis in sperm (PubMed:23091057). Plays also an important role in the exocytosis of hormones such as insulin or glucagon-like peptide 1 (GLP-1) (By similarity). Phosphorylated by CK2 (By similarity). Phosphorylation at Ser-188 by DAPK1 significantly decreases its interaction with STXBP1.;Sumoylated, sumoylation is required for regulation of synaptic vesicle endocytosis. Belongs to the syntaxin family. SNARE interactions in vesicular transport;Synaptic vesicle cycle;Insulin processing;Acetylcholine Neurotransmitter Release Cycle;GABA synthesis, release, reuptake and degradation;LGI-ADAM interactions;Glutamate Neurotransmitter Release Cycle;Norepinephrine Neurotransmitter Release Cycle;Regulation of insulin secretion;Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle;Toxicity of botulinum toxin type C (BoNT/C);Neurexins and neuroligins;Other interleukin signaling;Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 7 +NX_Q16625 Occludin 522 59144 5.77 4 Tight junction;Cell junction;Cell membrane Pseudo-TORCH syndrome 1 May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. It is able to induce adhesion when expressed in cells lacking tight junctions. Dephosphorylated by PTPRJ. The tyrosine phosphorylation on Tyr-398 and Tyr-402 reduces its ability to interact with TJP1. Phosphorylation at Ser-490 also attenuates the interaction with TJP1.;OCLN is phosphorylated by MAPK3;OCLN is phosphorylated by YES1 Belongs to the ELL/occludin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Pathogenic Escherichia coli infection;Hepatitis C;Apoptotic cleavage of cell adhesion proteins;RUNX1 regulates expression of components of tight junctions PE1 5 +NX_Q16626 Male-enhanced antigen 1 185 19905 4.13 0 Nucleoplasm;Cytosol NA May play an important role in spermatogenesis and/or testis development. NA NA NA PE1 6 +NX_Q16627 C-C motif chemokine 14 93 10678 8.95 0 Secreted NA Has weak activities on human monocytes and acts via receptors that also recognize MIP-1 alpha. It induces intracellular Ca(2+) changes and enzyme release, but no chemotaxis, at concentrations of 100-1,000 nM, and is inactive on T-lymphocytes, neutrophils, and eosinophil leukocytes. Enhances the proliferation of CD34 myeloid progenitor cells. The processed form HCC-1(9-74) is a chemotactic factor that attracts monocytes, eosinophils, and T-cells and is a ligand for CCR1, CCR3 and CCR5. HCC-1(1-74), but not HCC-1(3-74) and HCC-1(4-74), is partially O-glycosylated; the O-linked glycan consists of one Gal-GalNAc disaccharide, further modified by two N-acetylneuraminic acids.;The N-terminal processed forms HCC-1(3-74), HCC-1(4-74) and HCC-1(9-74) are produced in small amounts by proteolytic cleavage after secretion in blood. Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway PE1 17 +NX_Q16629 Serine/arginine-rich splicing factor 7 238 27367 11.83 0 Cytoplasm;Nucleoplasm;Nucleus NA Required for pre-mRNA splicing. Can also modulate alternative splicing in vitro. Represses the splicing of MAPT/Tau exon 10. May function as export adapter involved in mRNA nuclear export such as of histone H2A. Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NXF1 pathway); enhances NXF1-NXT1 RNA-binding activity. RNA-binding is semi-sequence specific. Extensively phosphorylated on serine residues in the RS domain.;SRSF7 is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the splicing factor SR family. Spliceosome;Herpes simplex infection;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 2 +NX_Q16630 Cleavage and polyadenylation specificity factor subunit 6 551 59210 6.66 0 Cytoplasm;Nucleoplasm;Nucleus speckle;Nucleus NA Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs (PubMed:9659921, PubMed:8626397, PubMed:14690600, PubMed:29276085). CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3'-end, so called cleavage and polyadenylation signals (pA signals) (PubMed:9659921, PubMed:8626397, PubMed:14690600). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3'-end formation (PubMed:23187700, PubMed:29276085). The CFIm complex acts as a key regulator of cleavage and polyadenylation site choice during APA through its binding to 5'-UGUA-3' elements localized in the 3'-untranslated region (UTR) for a huge number of pre-mRNAs (PubMed:20695905, PubMed:29276085). CPSF6 enhances NUDT21/CPSF5 binding to 5'-UGUA-3' elements localized upstream of pA signals and promotes RNA looping, and hence activates directly the mRNA 3'-processing machinery (PubMed:15169763, PubMed:29276085, PubMed:21295486). Plays a role in mRNA export (PubMed:19864460). Phosphorylated (PubMed:29276085). Phosphorylated in the Arg/Ser-rich domain by SRPK1, in vitro (PubMed:29276085).;Symmetrically dimethylated on arginine residues in the GAR motif by PRMT5 in a WDR77- and CLNS1A-dependent manner (PubMed:20562214). Asymmetrically dimethylated on arginine residues in the GAR motif by PRMT1 (PubMed:20562214). Belongs to the RRM CPSF6/7 family. mRNA surveillance pathway;Signaling by FGFR1 in disease;Signaling by cytosolic FGFR1 fusion mutants PE1 12 +NX_Q16633 POU domain class 2-associating factor 1 256 27436 4.87 0 Nucleus NA Transcriptional coactivator that specifically associates with either OCT1 or OCT2. It boosts the OCT1 mediated promoter activity and to a lesser extent, that of OCT2. It has no intrinsic DNA-binding activity. It recognizes the POU domains of OCT1 and OCT2. It is essential for the response of B-cells to antigens and required for the formation of germinal centers. Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation. Belongs to the POU2AF1 family. NA PE1 11 +NX_Q16635 Tafazzin 292 33459 9.1 1 Membrane;Endoplasmic reticulum;Cytoplasm;Cell membrane Barth syndrome Some isoforms may be involved in cardiolipin (CL) metabolism. NA Belongs to the taffazin family. Glycerophospholipid metabolism;Mitochondrial protein import;Acyl chain remodeling of CL PE1 X +NX_Q16637 Survival motor neuron protein 294 31849 6.13 0 Cajal body;Cytoplasm;Z line;Neuron projection;Gem;Perikaryon;Cytosol;Axon;Cytoplasmic granule;Nucleus Spinal muscular atrophy 3;Spinal muscular atrophy 1;Spinal muscular atrophy 2;Spinal muscular atrophy 4 The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development. Also required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs). NA Belongs to the SMN family. RNA transport;RNA transport;snRNP Assembly PE1 5 +NX_Q16643 Drebrin 649 71429 4.41 0 Cytoplasm;Cell cortex;Cell membrane;Growth cone;Cell junction;Dendrite;Cytoskeleton Alzheimer disease Actin cytoskeleton-organizing protein that plays a role in the formation of cell projections (PubMed:20215400). Required for actin polymerization at immunological synapses (IS) and for the recruitment of the chemokine receptor CXCR4 to IS (PubMed:20215400). Plays a role in dendritic spine morphogenesis and organization, including the localization of the dopamine receptor DRD1 to the dendritic spines (By similarity). Involved in memory-related synaptic plasticity in the hippocampus (By similarity). DBN1 is phosphorylated by ABL2 (Phosphotyrosine:PTM-0255) NA NA PE1 5 +NX_Q16644 MAP kinase-activated protein kinase 3 382 42987 6.87 0 Nucleoplasm;Cytoplasm;Nucleus Macular dystrophy, patterned, 3 Stress-activated serine/threonine-protein kinase involved in cytokines production, endocytosis, cell migration, chromatin remodeling and transcriptional regulation. Following stress, it is phosphorylated and activated by MAP kinase p38-alpha/MAPK14, leading to phosphorylation of substrates. Phosphorylates serine in the peptide sequence, Hyd-X-R-X(2)-S, where Hyd is a large hydrophobic residue. MAPKAPK2 and MAPKAPK3, share the same function and substrate specificity, but MAPKAPK3 kinase activity and level in protein expression are lower compared to MAPKAPK2. Phosphorylates HSP27/HSPB1, KRT18, KRT20, RCSD1, RPS6KA3, TAB3 and TTP/ZFP36. Mediates phosphorylation of HSP27/HSPB1 in response to stress, leading to dissociate HSP27/HSPB1 from large small heat-shock protein (sHsps) oligomers and impair their chaperone activities and ability to protect against oxidative stress effectively. Involved in inflammatory response by regulating tumor necrosis factor (TNF) and IL6 production post-transcriptionally: acts by phosphorylating AU-rich elements (AREs)-binding proteins, such as TTP/ZFP36, leading to regulate the stability and translation of TNF and IL6 mRNAs. Phosphorylation of TTP/ZFP36, a major post-transcriptional regulator of TNF, promotes its binding to 14-3-3 proteins and reduces its ARE mRNA affinity leading to inhibition of dependent degradation of ARE-containing transcript. Involved in toll-like receptor signaling pathway (TLR) in dendritic cells: required for acute TLR-induced macropinocytosis by phosphorylating and activating RPS6KA3. Also acts as a modulator of Polycomb-mediated repression. Phosphorylated and activated by MAPK1/ERK2 and MAPK3/ERK1. Phosphorylated and activated by MAP kinase p38-alpha/MAPK14 at Thr-201, Ser-251 and Thr-313 (By similarity).;MAPKAPK3 is phosphorylated by MAPK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAPKAPK3 is phosphorylated by MAPK12 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAPKAPK3 is phosphorylated by MAPK10 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAPKAPK3 is phosphorylated by MAPK9 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAPKAPK3 is phosphorylated by MAPK13 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAPKAPK3 is phosphorylated by MAPK14 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. MAPK signaling pathway;VEGF signaling pathway;Oxidative Stress Induced Senescence;activated TAK1 mediates p38 MAPK activation;VEGFA-VEGFR2 Pathway;p38MAPK events PE1 3 +NX_Q16647 Prostacyclin synthase 500 57104 6.8 1 Endoplasmic reticulum;Endoplasmic reticulum membrane Essential hypertension Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2). NA Belongs to the cytochrome P450 family. Arachidonic acid metabolism;Metabolic pathways;Synthesis of Prostaglandins (PG) and Thromboxanes (TX);Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 24-hydroxycholesterol;Synthesis of bile acids and bile salts via 27-hydroxycholesterol;Nicotinamide salvaging;Eicosanoids;Sterols are 12-hydroxylated by CYP8B1 PE1 20 +NX_Q16649 Nuclear factor interleukin-3-regulated protein 462 51472 6.7 0 Nucleus NA Acts as a transcriptional regulator that recognizes and binds to the sequence 5'-[GA]TTA[CT]GTAA[CT]-3', a sequence present in many cellular and viral promoters. Represses transcription from promoters with activating transcription factor (ATF) sites. Represses promoter activity in osteoblasts (By similarity). Represses transcriptional activity of PER1 (By similarity). Represses transcriptional activity of PER2 via the B-site on the promoter (By similarity). Activates transcription from the interleukin-3 promoter in T-cells. Competes for the same consensus-binding site with PAR DNA-binding factors (DBP, HLF and TEF) (By similarity). Component of the circadian clock that acts as a negative regulator for the circadian expression of PER2 oscillation in the cell-autonomous core clock (By similarity). Protects pro-B cells from programmed cell death (By similarity). Represses the transcription of CYP2A5 (By similarity). Positively regulates the expression and activity of CES2 by antagonizing the repressive action of NR1D1 on CES2 (By similarity). NA Belongs to the bZIP family. NFIL3 subfamily. Circadian Clock PE1 9 +NX_Q16650 T-box brain protein 1 682 74053 6.89 0 Nucleus Intellectual developmental disorder with autism and speech delay Transcriptional repressor involved in multiple aspects of cortical development, including neuronal migration, laminar and areal identity, and axonal projection (PubMed:25232744, PubMed:30250039). As transcriptional repressor of FEZF2, it blocks the formation of the corticospinal (CS) tract from layer 6 projection neurons, thereby restricting the origin of CS axons specifically to layer 5 neurons (By similarity). NA NA NA PE1 2 +NX_Q16651 Prostasin 343 36431 5.52 1 Cell membrane;Extracellular space NA Possesses a trypsin-like cleavage specificity with a preference for poly-basic substrates. Stimulates epithelial sodium channel (ENaC) activity through activating cleavage of the gamma subunits (SCNN1G). NA Belongs to the peptidase S1 family. Formation of the cornified envelope PE1 16 +NX_Q16653 Myelin-oligodendrocyte glycoprotein 247 28193 8.87 2 Cell membrane Narcolepsy 7 Mediates homophilic cell-cell adhesion (By similarity). Minor component of the myelin sheath. May be involved in completion and/or maintenance of the myelin sheath and in cell-cell communication.;(Microbial infection) Acts as a receptor for rubella virus. NA Belongs to the immunoglobulin superfamily. BTN/MOG family. NA PE1 6 +NX_Q16654 [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial 411 46469 6.19 0 Mitochondrion matrix NA Kinase that plays a key role in regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Inhibition of pyruvate dehydrogenase decreases glucose utilization and increases fat metabolism in response to prolonged fasting and starvation. Plays an important role in maintaining normal blood glucose levels under starvation, and is involved in the insulin signaling cascade. Via its regulation of pyruvate dehydrogenase activity, plays an important role in maintaining normal blood pH and in preventing the accumulation of ketone bodies under starvation. In the fed state, mediates cellular responses to glucose levels and to a high-fat diet. Regulates both fatty acid oxidation and de novo fatty acid biosynthesis. Plays a role in the generation of reactive oxygen species. Protects detached epithelial cells against anoikis. Plays a role in cell proliferation via its role in regulating carbohydrate and fatty acid metabolism. NA Belongs to the PDK/BCKDK protein kinase family. Signaling by Retinoic Acid;Regulation of pyruvate dehydrogenase (PDH) complex PE1 7 +NX_Q16655 Melanoma antigen recognized by T-cells 1 118 13157 8.29 1 Golgi apparatus;trans-Golgi network membrane;Endoplasmic reticulum membrane;Melanosome NA Involved in melanosome biogenesis by ensuring the stability of GPR143. Plays a vital role in the expression, stability, trafficking, and processing of melanocyte protein PMEL, which is critical to the formation of stage II melanosomes. Acylated. NA NA PE1 9 +NX_Q16656 Nuclear respiratory factor 1 503 53541 4.94 0 Nucleoplasm;Cytosol;Nucleus NA Transcription factor that activates the expression of the EIF2S1 (EIF2-alpha) gene. Links the transcriptional modulation of key metabolic genes to cellular growth and development. Implicated in the control of nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. Phosphorylation enhances DNA binding. Belongs to the NRF1/Ewg family. Huntington's disease;PPARA activates gene expression;Transcriptional activation of mitochondrial biogenesis PE1 7 +NX_Q16658 Fascin 493 54530 6.84 0 Cell cortex;Invadopodium;Cell membrane;Cell junction;Stress fiber;Filopodium;Cytosol;Microvillus;Cytoskeleton NA Actin-binding protein that contains 2 major actin binding sites (PubMed:21685497, PubMed:23184945). Organizes filamentous actin into parallel bundles (PubMed:20393565, PubMed:21685497, PubMed:23184945). Plays a role in the organization of actin filament bundles and the formation of microspikes, membrane ruffles, and stress fibers (PubMed:22155786). Important for the formation of a diverse set of cell protrusions, such as filopodia, and for cell motility and migration (PubMed:20393565, PubMed:21685497, PubMed:23184945). Mediates reorganization of the actin cytoskeleton and axon growth cone collapse in response to NGF (PubMed:22155786). Phosphorylation at Ser-39 inhibits actin-binding (PubMed:8647875, PubMed:8999969). Phosphorylation is required for the reorganization of the actin cytoskeleton in response to NGF (PubMed:22155786). Belongs to the fascin family. Interleukin-4 and Interleukin-13 signaling PE1 7 +NX_Q16659 Mitogen-activated protein kinase 6 721 82681 4.91 0 Cytoplasm;Cytosol;Nucleus NA Atypical MAPK protein. Phosphorylates microtubule-associated protein 2 (MAP2) and MAPKAPK5. The precise role of the complex formed with MAPKAPK5 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPKAPK5, ERK3/MAPK6 is phosphorylated at Ser-189 and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK3/MAPK6. May promote entry in the cell cycle (By similarity). Ubiquitination at Met-1 leads to degradation by the proteasome pathway.;Phosphorylated at Ser-189 by PAK1, PAK2 and PAK3 resulting in catalytic activation. Phosphorylated by MAPKAPK5 at other sites.;MAPK6 is phosphorylated by MAPKAPK5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. MAPK6/MAPK4 signaling PE1 15 +NX_Q16661 Guanylate cyclase activator 2B 112 12069 6.02 0 Secreted NA Endogenous activator of intestinal guanylate cyclase. It stimulates this enzyme through the same receptor binding region as the heat-stable enterotoxins. May be a potent physiological regulator of intestinal fluid and electrolyte transport. May be an autocrine/paracrine regulator of intestinal salt and water transport. NA Belongs to the guanylin family. Digestion PE1 1 +NX_Q16663 C-C motif chemokine 15 113 12248 8.49 0 Golgi apparatus;Secreted;Cytoplasmic vesicle NA Chemotactic factor that attracts T-cells and monocytes, but not neutrophils, eosinophils, or B-cells. Acts mainly via CC chemokine receptor CCR1. Also binds to CCR3. CCL15(22-92), CCL15(25-92) and CCL15(29-92) are more potent chemoattractants than the small-inducible cytokine A15. NA Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway PE1 17 +NX_Q16665 Hypoxia-inducible factor 1-alpha 826 92670 5.17 0 Cytoplasm;Nucleus speckle;Cell membrane;Nucleoplasm;Nucleus NA Functions as a master transcriptional regulator of the adaptive response to hypoxia. Under hypoxic conditions, activates the transcription of over 40 genes, including erythropoietin, glucose transporters, glycolytic enzymes, vascular endothelial growth factor, HILPDA, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. Plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Activation requires recruitment of transcriptional coactivators such as CREBBP and EP300. Activity is enhanced by interaction with both, NCOA1 or NCOA2. Interaction with redox regulatory protein APEX seems to activate CTAD and potentiates activation by NCOA1 and CREBBP. Involved in the axonal distribution and transport of mitochondria in neurons during hypoxia. Polyubiquitinated; in normoxia, following hydroxylation and interaction with VHL. Lys-532 appears to be the principal site of ubiquitination. Clioquinol, the Cu/Zn-chelator, inhibits ubiquitination through preventing hydroxylation at Asn-803. Ubiquitinated by a CUL2-based E3 ligase.;Requires phosphorylation for DNA-binding. Phosphorylation at Ser-247 by CSNK1D/CK1 represses kinase activity and impairs ARNT binding. Phosphorylation by GSK3-beta and PLK3 promote degradation by the proteasome.;Sumoylated; with SUMO1 under hypoxia. Sumoylation is enhanced through interaction with RWDD3. Both sumoylation and desumoylation seem to be involved in the regulation of its stability during hypoxia. Sumoylation can promote either its stabilization or its VHL-dependent degradation by promoting hydroxyproline-independent HIF1A-VHL complex binding, thus leading to HIF1A ubiquitination and proteasomal degradation. Desumoylation by SENP1 increases its stability amd transcriptional activity. There is a disaccord between various publications on the effect of sumoylation and desumoylation on its stability and transcriptional activity.;Acetylation of Lys-532 by ARD1 increases interaction with VHL and stimulates subsequent proteasomal degradation (PubMed:12464182). Deacetylation of Lys-709 by SIRT2 increases its interaction with and hydroxylation by EGLN1 thereby inactivating HIF1A activity by inducing its proteasomal degradation (PubMed:24681946).;In normoxia, is hydroxylated on Pro-402 and Pro-564 in the oxygen-dependent degradation domain (ODD) by EGLN1/PHD2 and EGLN2/PHD1 (PubMed:11292861, PubMed:11566883, PubMed:12351678, PubMed:15776016, PubMed:25974097). EGLN3/PHD3 has also been shown to hydroxylate Pro-564 (PubMed:11292861, PubMed:11566883, PubMed:12351678, PubMed:15776016, PubMed:25974097). The hydroxylated prolines promote interaction with VHL, initiating rapid ubiquitination and subsequent proteasomal degradation (PubMed:11292861, PubMed:11566883, PubMed:12351678, PubMed:15776016, PubMed:25974097). Deubiquitinated by USP20 (PubMed:11292861, PubMed:11566883, PubMed:12351678, PubMed:15776016, PubMed:25974097). Under hypoxia, proline hydroxylation is impaired and ubiquitination is attenuated, resulting in stabilization (PubMed:11292861, PubMed:11566883, PubMed:12351678, PubMed:15776016, PubMed:25974097). In normoxia, is hydroxylated on Asn-803 by HIF1AN, thus abrogating interaction with CREBBP and EP300 and preventing transcriptional activation (PubMed:12080085). This hydroxylation is inhibited by the Cu/Zn-chelator, Clioquinol (PubMed:12080085). Repressed by iron ion, via Fe(2+) prolyl hydroxylase (PHD) enzymes-mediated hydroxylation and subsequent proteasomal degradation (PubMed:28296633).;S-nitrosylation of Cys-800 may be responsible for increased recruitment of p300 coactivator necessary for transcriptional activity of HIF-1 complex.;The iron and 2-oxoglutarate dependent 3-hydroxylation of asparagine is (S) stereospecific within HIF CTAD domains. NA mTOR signaling pathway;Pathways in cancer;Renal cell carcinoma;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Regulation of gene expression by Hypoxia-inducible Factor;Circadian Clock;NOTCH1 Intracellular Domain Regulates Transcription;PTK6 Expression;PTK6 promotes HIF1A stabilization;Ub-specific processing proteases;Interleukin-4 and Interleukin-13 signaling;Neddylation;Cellular response to hypoxia PE1 14 +NX_Q16666 Gamma-interferon-inducible protein 16 785 88256 9.31 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Binds double-stranded DNA. Binds preferentially to supercoiled DNA and cruciform DNA structures. Seems to be involved in transcriptional regulation. May function as a transcriptional repressor. Could have a role in the regulation of hematopoietic differentiation through activation of unknown target genes. Controls cellular proliferation by modulating the functions of cell cycle regulatory factors including p53/TP53 and the retinoblastoma protein. May be involved in TP53-mediated transcriptional activation by enhancing TP53 sequence-specific DNA binding and modulating TP53 phosphorylation status. Seems to be involved in energy-level-dependent activation of the ATM/ AMPK/TP53 pathway coupled to regulation of autophagy. May be involved in regulation of TP53-mediated cell death also involving BRCA1. May be involved in the senescence of prostate epithelial cells. Involved in innate immune response by recognizing viral dsDNA in the cytosol and probably in the nucleus. After binding to viral DNA in the cytoplasm recruits TMEM173/STING and mediates the induction of IFN-beta. Has anti-inflammatory activity and inhibits the activation of the AIM2 inflammasome, probably via association with AIM2. Proposed to bind viral DNA in the nucleus, such as of Kaposi's sarcoma-associated herpesvirus, and to induce the formation of nuclear caspase-1-activating inflammasome formation via association with PYCARD. Inhibits replication of herpesviruses such as human cytomegalovirus (HCMV) probably by interfering with promoter recruitment of members of the Sp1 family of transcription factors. Necessary to activate the IRF3 signaling cascade during human herpes simplex virus 1 (HHV-1) infection and promotes the assembly of heterochromatin on herpesviral DNA and inhibition of viral immediate-early gene expression and replication. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. Ubiquitinated by human herpes simplex virus 1 (HHV-1) ICP0 protein; leading to degradation by the proteasome.;Seems to show a minor degree of complex carbohydrate addition.;Phosphorylated on Ser and Thr.;Lysine acetylation in the multipartite nuclear localization signal (NLS) regulates the subcellular location. In vitro can be acetylated by p300/EP300 coupled to cytoplasmic localization. Belongs to the HIN-200 family. STING mediated induction of host immune responses;IRF3-mediated induction of type I IFN PE1 1 +NX_Q16667 Cyclin-dependent kinase inhibitor 3 212 23805 5.97 0 Cytoplasm;Cytosol;Perinuclear region Hepatocellular carcinoma May play a role in cell cycle regulation. Dual specificity phosphatase active toward substrates containing either phosphotyrosine or phosphoserine residues. Dephosphorylates CDK2 at 'Thr-160' in a cyclin-dependent manner. NA Belongs to the protein-tyrosine phosphatase family. NA PE1 14 +NX_Q16670 Zinc finger and SCAN domain-containing protein 26 478 55254 8.36 0 Nucleoplasm;Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 6 +NX_Q16671 Anti-Muellerian hormone type-2 receptor 573 62750 5.53 1 Centriolar satellite;Membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol Persistent Muellerian duct syndrome 2 On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for anti-Muellerian hormone. NA Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Cytokine-cytokine receptor interaction;TGF-beta signaling pathway;Signaling by BMP PE1 12 +NX_Q16674 Melanoma-derived growth regulatory protein 131 14509 9.04 0 Secreted NA Elicits growth inhibition on melanoma cells in vitro as well as some other neuroectodermal tumors, including gliomas. May possess two intramolecular disulfide bonds. Belongs to the MIA/OTOR family. NA PE1 19 +NX_Q16676 Forkhead box protein D1 465 46140 5.03 0 Nucleus NA Transcription factor involved in regulation of gene expression in a variety of processes, including formation of positional identity in the developing retina, regionalization of the optic chiasm, morphogenesis of the kidney, and neuralization of ectodermal cells (By similarity). Involved in transcriptional activation of PGF and C3 genes (PubMed:27805902). NA NA NA PE1 5 +NX_Q16678 Cytochrome P450 1B1 543 60846 9.18 0 Microsome membrane;Endoplasmic reticulum membrane;Mitochondrion Glaucoma 3, primary congenital, A;Anterior segment dysgenesis 6;Glaucoma 1, open angle, A A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:20972997, PubMed:11555828, PubMed:12865317, PubMed:10681376, PubMed:15258110). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:20972997, PubMed:11555828, PubMed:12865317, PubMed:10681376, PubMed:15258110). Exhibits catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2- and 4-hydroxy E1 and E2. Displays a predominant hydroxylase activity toward E2 at the C-4 position (PubMed:11555828, PubMed:12865317). Metabolizes testosterone and progesterone to B or D ring hydroxylated metabolites (PubMed:10426814). May act as a major enzyme for all-trans retinoic acid biosynthesis in extrahepatic tissues. Catalyzes two successive oxidative transformation of all-trans retinol to all-trans retinal and then to the active form all-trans retinoic acid (PubMed:10681376, PubMed:15258110). Catalyzes the epoxidation of double bonds of certain PUFA. Converts arachidonic acid toward epoxyeicosatrienoic acid (EpETrE) regioisomers, 8,9-, 11,12-, and 14,15- EpETrE, that function as lipid mediators in the vascular system (PubMed:20972997). Additionally, displays dehydratase activity toward oxygenated eicosanoids hydroperoxyeicosatetraenoates (HpETEs). This activity is independent of cytochrome P450 reductase, NADPH, and O2 (PubMed:21068195). Also involved in the oxidative metabolism of xenobiotics, particularly converting polycyclic aromatic hydrocarbons and heterocyclic aryl amines procarcinogens to DNA-damaging products (PubMed:10426814). Plays an important role in retinal vascular development. Under hyperoxic O2 conditions, promotes retinal angiogenesis and capillary morphogenesis, likely by metabolizing the oxygenated products generated during the oxidative stress. Also, contributes to oxidative homeostasis and ultrastructural organization and function of trabecular meshwork tissue through modulation of POSTN expression (By similarity). NA Belongs to the cytochrome P450 family. Steroid hormone biosynthesis.;Cofactor metabolism; retinol metabolism.;Lipid metabolism; arachidonate metabolism.;Steroid hormone biosynthesis;Tryptophan metabolism;Metabolism of xenobiotics by cytochrome P450;Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET);Endogenous sterols;Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE);Defective CYP1B1 causes Glaucoma PE1 2 +NX_Q16690 Dual specificity protein phosphatase 5 384 42047 8.69 0 Nucleus NA Dual specificity protein phosphatase; active with phosphotyrosine, phosphoserine and phosphothreonine residues. The highest relative activity is toward ERK1. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. MAPK signaling pathway;RAF-independent MAPK1/3 activation;Negative regulation of MAPK pathway PE1 10 +NX_Q16695 Histone H3.1t 136 15508 11.13 0 Nucleoplasm;Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Citrullination at Arg-9 (H3R8ci) and/or Arg-18 (H3R17ci) by PADI4 impairs methylation and represses transcription.;Serine ADP-ribosylation constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage. Serine ADP-ribosylation at Ser-11 (H3S10ADPr) is mutually exclusive with phosphorylation at Ser-11 (H3S10ph) and impairs acetylation at Lys-10 (H3K9ac).;Lysine deamination at Lys-5 (H3K4all) to form allysine is mediated by LOXL2. Allysine formation by LOXL2 only takes place on H3K4me3 and results in gene repression (By similarity).;Asymmetric dimethylation at Arg-18 (H3R17me2a) by CARM1 is linked to gene activation. Symmetric dimethylation at Arg-9 (H3R8me2s) by PRMT5 is linked to gene repression. Asymmetric dimethylation at Arg-3 (H3R2me2a) by PRMT6 is linked to gene repression and is mutually exclusive with H3 Lys-5 methylation (H3K4me2 and H3K4me3). H3R2me2a is present at the 3' of genes regardless of their transcription state and is enriched on inactive promoters, while it is absent on active promoters (By similarity).;Butyrylation of histones marks active promoters and competes with histone acetylation. It is present during late spermatogenesis.;Succinylation at Lys-80 (H3K79succ) by KAT2A takes place with a maximum frequency around the transcription start sites of genes. It gives a specific tag for epigenetic transcription activation.;Ubiquitinated.;Acetylation is generally linked to gene activation. Acetylation on Lys-10 (H3K9ac) impairs methylation at Arg-9 (H3R8me2s). Acetylation on Lys-19 (H3K18ac) and Lys-24 (H3K24ac) favors methylation at Arg-18 (H3R17me). Acetylation at Lys-123 (H3K122ac) by EP300/p300 plays a central role in chromatin structure: localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability (By similarity).;Phosphorylated at Thr-4 (H3T3ph) by HASPIN during prophase and dephosphorylated during anaphase. Phosphorylation at Ser-11 (H3S10ph) by AURKB is crucial for chromosome condensation and cell-cycle progression during mitosis and meiosis. In addition phosphorylation at Ser-11 (H3S10ph) by RPS6KA4 and RPS6KA5 is important during interphase because it enables the transcription of genes following external stimulation, like mitogens, stress, growth factors or UV irradiation and result in the activation of genes, such as c-fos and c-jun. Phosphorylation at Ser-11 (H3S10ph), which is linked to gene activation, prevents methylation at Lys-10 (H3K9me) but facilitates acetylation of H3 and H4. Phosphorylation at Ser-11 (H3S10ph) by AURKB mediates the dissociation of HP1 proteins (CBX1, CBX3 and CBX5) from heterochromatin. Phosphorylation at Ser-11 (H3S10ph) is also an essential regulatory mechanism for neoplastic cell transformation. Phosphorylated at Ser-29 (H3S28ph) by MAP3K20 isoform 1, RPS6KA5 or AURKB during mitosis or upon ultraviolet B irradiation. Phosphorylation at Thr-7 (H3T6ph) by PRKCB is a specific tag for epigenetic transcriptional activation that prevents demethylation of Lys-5 (H3K4me) by LSD1/KDM1A. At centromeres, specifically phosphorylated at Thr-12 (H3T11ph) from prophase to early anaphase, by DAPK3 and PKN1. Phosphorylation at Thr-12 (H3T11ph) by PKN1 is a specific tag for epigenetic transcriptional activation that promotes demethylation of Lys-10 (H3K9me) by KDM4C/JMJD2C. Phosphorylation at Tyr-42 (H3Y41ph) by JAK2 promotes exclusion of CBX5 (HP1 alpha) from chromatin (By similarity).;Methylation at Lys-5 (H3K4me), Lys-37 (H3K36me) and Lys-80 (H3K79me) are linked to gene activation. Methylation at Lys-5 (H3K4me) facilitates subsequent acetylation of H3 and H4. Methylation at Lys-80 (H3K79me) is associated with DNA double-strand break (DSB) responses and is a specific target for TP53BP1. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are linked to gene repression. Methylation at Lys-10 (H3K9me) is a specific target for HP1 proteins (CBX1, CBX3 and CBX5) and prevents subsequent phosphorylation at Ser-11 (H3S10ph) and acetylation of H3 and H4. Methylation at Lys-5 (H3K4me) and Lys-80 (H3K79me) require preliminary monoubiquitination of H2B at 'Lys-120'. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are enriched in inactive X chromosome chromatin. Monomethylation at Lys-57 (H3K56me1) by EHMT2/G9A in G1 phase promotes interaction with PCNA and is required for DNA replication (By similarity). Belongs to the histone H3 family. Systemic lupus erythematosus;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;Condensation of Prophase Chromosomes;DNA Damage/Telomere Stress Induced Senescence;Meiotic recombination;G2/M DNA damage checkpoint;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ) PE1 1 +NX_Q16696 Cytochrome P450 2A13 494 56688 9.31 0 Microsome membrane;Endoplasmic reticulum membrane NA Exhibits a coumarin 7-hydroxylase activity. Active in the metabolic activation of hexamethylphosphoramide, N,N-dimethylaniline, 2'-methoxyacetophenone, N-nitrosomethylphenylamine, and the tobacco-specific carcinogen, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone. Possesses phenacetin O-deethylation activity. NA Belongs to the cytochrome P450 family. Caffeine metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Xenobiotics;Aflatoxin activation and detoxification;Fatty acids;CYP2E1 reactions PE1 19 +NX_Q16698 2,4-dienoyl-CoA reductase, mitochondrial 335 36068 9.35 0 Cytosol;Mitochondrion 2,4-dienoyl-CoA reductase deficiency Auxiliary enzyme of beta-oxidation. It participates in the metabolism of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions in mitochondria. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. 2,4-dienoyl-CoA reductase subfamily. mitochondrial fatty acid beta-oxidation of unsaturated fatty acids PE1 8 +NX_Q16706 Alpha-mannosidase 2 1144 131141 7.24 1 Golgi apparatus;Golgi apparatus membrane NA Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N-glycans; the final hydrolytic step in the N-glycan maturation pathway. Glycosylated. Belongs to the glycosyl hydrolase 38 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Reactions specific to the complex N-glycan synthesis pathway;Intra-Golgi traffic PE1 5 +NX_Q16718 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 116 13459 5.75 0 Mitochondrion inner membrane NA Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFA5 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 7 +NX_Q16719 Kynureninase 465 52352 6.56 0 Nucleoplasm;Cytosol Vertebral, cardiac, renal, and limb defects syndrome 2;Hydroxykynureninuria Catalyzes the cleavage of L-kynurenine (L-Kyn) and L-3-hydroxykynurenine (L-3OHKyn) into anthranilic acid (AA) and 3-hydroxyanthranilic acid (3-OHAA), respectively. Has a preference for the L-3-hydroxy form. Also has cysteine-conjugate-beta-lyase activity. NA Belongs to the kynureninase family. Amino-acid degradation; L-kynurenine degradation; L-alanine and anthranilate from L-kynurenine: step 1/1.;Cofactor biosynthesis; NAD(+) biosynthesis; quinolinate from L-kynurenine: step 2/3.;Tryptophan metabolism;Metabolic pathways;Tryptophan catabolism PE1 2 +NX_Q16720 Plasma membrane calcium-transporting ATPase 3 1220 134197 5.45 10 Cell membrane Spinocerebellar ataxia, X-linked 1 This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily. Calcium signaling pathway;Salivary secretion;Pancreatic secretion;Ion transport by P-type ATPases;Reduction of cytosolic Ca++ levels;Ion homeostasis PE1 X +NX_Q16739 Ceramide glucosyltransferase 394 44854 7.94 5 Cytoplasm;Golgi apparatus membrane;Cell membrane NA Catalyzes at the cytosolic surface of the Golgi, the initial step of the glucosylceramide-based glycosphingolipid/GSL synthetic pathway, the transfer of glucose from UDP-glucose to ceramide to produce glucosylceramide/GlcCer (PubMed:8643456, PubMed:1532799). Glucosylceramide is the core component of glycosphingolipids/GSLs, amphipathic molecules consisting of a ceramide lipid moiety embedded in the outer leaflet of the membrane, linked to one of hundreds of different externally oriented oligosaccharide structures (PubMed:8643456). Glycosphingolipids are essential components of membrane microdomains that mediate membrane trafficking and signal transduction. They are implicated in many fundamental cellular processes, including growth, differentiation, migration, morphogenesis, cell-to-cell and cell-to-matrix interactions. They are required for instance in the proper development and functioning of the nervous system. As an example of their role in signal transduction, they regulate the leptin receptor/LEPR in the leptin-mediated signaling pathway. They also play an important role in the establishment of the skin barrier regulating keratinocyte differentiation and the proper assembly of the cornified envelope. The biosynthesis of GSLs is also required for the proper intestinal endocytic uptake of nutritional lipids (By similarity). NA Belongs to the glycosyltransferase 2 family. Lipid metabolism; sphingolipid metabolism.;Sphingolipid metabolism;Metabolic pathways;Glycosphingolipid metabolism PE1 9 +NX_Q16740 ATP-dependent Clp protease proteolytic subunit, mitochondrial 277 30180 8.26 0 Mitochondrion matrix;Mitochondrion Perrault syndrome 3 Protease component of the Clp complex that cleaves peptides and various proteins in an ATP-dependent process. Has low peptidase activity in the absence of CLPX. The Clp complex can degrade CSN1S1, CSN2 and CSN3, as well as synthetic peptides (in vitro) and may be responsible for a fairly general and central housekeeping function rather than for the degradation of specific substrates. NA Belongs to the peptidase S14 family. NA PE1 19 +NX_Q16760 Diacylglycerol kinase delta 1214 134525 7.62 0 Membrane;Cytoplasm;Cytosol NA May function as signaling molecule.;May be involved in cell growth and tumorigenesis. Involved in clathrin-dependent endocytosis. H domain is phosphorylated. Belongs to the eukaryotic diacylglycerol kinase family. Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Effects of PIP2 hydrolysis PE1 2 +NX_Q16762 Thiosulfate sulfurtransferase 297 33429 6.77 0 Mitochondrion matrix;Mitochondrion NA Formation of iron-sulfur complexes, cyanide detoxification or modification of sulfur-containing enzymes. Other thiol compounds, besides cyanide, can act as sulfur ion acceptors. Also has weak mercaptopyruvate sulfurtransferase (MST) activity (By similarity). Together with MRPL18, acts as a mitochondrial import factor for the cytosolic 5S rRNA. Only the nascent unfolded cytoplasmic form is able to bind to the 5S rRNA. NA NA Cysteine and methionine metabolism;Metabolic pathways;Sulfur relay system;Sulfide oxidation to sulfate;Degradation of cysteine and homocysteine PE1 22 +NX_Q16763 Ubiquitin-conjugating enzyme E2 S 222 23845 8.45 0 Nucleoplasm;Cell membrane NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:22496338). Catalyzes 'Lys-11'-linked polyubiquitination. Acts as an essential factor of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated ubiquitin ligase that controls progression through mitosis. Acts by specifically elongating 'Lys-11'-linked polyubiquitin chains initiated by the E2 enzyme UBE2C/UBCH10 on APC/C substrates, enhancing the degradation of APC/C substrates by the proteasome and promoting mitotic exit (PubMed:19820702, PubMed:19822757, PubMed:27259151). Also acts by elongating ubiquitin chains initiated by the E2 enzyme UBE2D1/UBCH5 in vitro; it is however unclear whether UBE2D1/UBCH5 acts as an E2 enzyme for the APC/C in vivo. Also involved in ubiquitination and subsequent degradation of VHL, resulting in an accumulation of HIF1A (PubMed:16819549). In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, except 'Lys-48'-linked polyubiquitination (PubMed:20061386, PubMed:20622874). Autoubiquitinated by the APC/C complex during G1, leading to its degradation by the proteasome. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Synthesis of active ubiquitin: roles of E1 and E2 enzymes PE1 19 +NX_Q16769 Glutaminyl-peptide cyclotransferase 361 40877 6.12 0 Cytosol;Secreted NA Responsible for the biosynthesis of pyroglutamyl peptides. Has a bias against acidic and tryptophan residues adjacent to the N-terminal glutaminyl residue and a lack of importance of chain length after the second residue. Also catalyzes N-terminal pyroglutamate formation. In vitro, catalyzes pyroglutamate formation of N-terminally truncated form of APP amyloid-beta peptides [Glu-3]-amyloid-beta. May be involved in the N-terminal pyroglutamate formation of several amyloid-related plaque-forming peptides. NA Belongs to the glutaminyl-peptide cyclotransferase family. Neutrophil degranulation PE1 2 +NX_Q16772 Glutathione S-transferase A3 222 25302 9.21 0 Cytoplasm NA Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Catalyzes isomerization reactions that contribute to the biosynthesis of steroid hormones. Efficiently catalyze obligatory double-bond isomerizations of delta(5)-androstene-3,17-dione and delta(5)-pregnene-3,20-dione, precursors to testosterone and progesterone, respectively. NA Belongs to the GST superfamily. Alpha family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Glutathione conjugation PE1 6 +NX_Q16773 Kynurenine--oxoglutarate transaminase 1 422 47875 6.02 0 Cytoplasm;Cytosol NA Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Metabolizes the cysteine conjugates of certain halogenated alkenes and alkanes to form reactive metabolites. Catalyzes the beta-elimination of S-conjugates and Se-conjugates of L-(seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond. NA Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Amino-acid degradation; L-kynurenine degradation; kynurenate from L-kynurenine: step 1/2.;Tryptophan metabolism;Selenocompound metabolism;Metabolic pathways;Tryptophan catabolism;Glutamate and glutamine metabolism;Phenylalanine metabolism PE1 9 +NX_Q16774 Guanylate kinase 197 21726 6.11 0 Photoreceptor inner segment;Cytosol NA Catalyzes the phosphorylation of GMP to GDP. Essential enzyme for recycling GMP and indirectly, cyclic GMP (cGMP) (PubMed:31201273). Involved in the cGMP metabolism in photoreceptors (By similarity). It may also have a role in the survival and growth progression of some tumors (PubMed:31201273). In addition to its physiological role, GUK1 is essential for convert prodrugs used for the treatment of cancers and viral infections into their pharmacologically active metabolites, most notably acyclovir, ganciclovir, and 6-thioguanine and its closely related analog 6-mercaptopurine (PubMed:197968, PubMed:6248551, PubMed:6306664). NA Belongs to the guanylate kinase family. Purine metabolism;Metabolic pathways;Interconversion of nucleotide di- and triphosphates;Abacavir metabolism PE1 1 +NX_Q16775 Hydroxyacylglutathione hydrolase, mitochondrial 308 33806 8.34 0 Cytoplasm;Mitochondrion matrix NA Thiolesterase that catalyzes the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic acid. NA Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family. Secondary metabolite metabolism; methylglyoxal degradation; (R)-lactate from methylglyoxal: step 2/2.;Pyruvate metabolism;Pyruvate metabolism PE1 16 +NX_Q16777 Histone H2A type 2-C 129 13988 10.9 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239).;Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.;Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.;Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of 'Lys-27' of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and 'Lys-63'-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend 'Lys-63'-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). H2AK119Ub and ionizing radiation-induced 'Lys-63'-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Deiminated on Arg-4 in granulocytes upon calcium entry. Belongs to the histone H2A family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;RMTs methylate histone arginines;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;UCH proteinases;Ub-specific processing proteases;Metalloprotease DUBs;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 1 +NX_Q16778 Histone H2B type 2-E 126 13920 10.31 0 Nucleus;Chromosome NA Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid.;Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes (By similarity).;Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination. Belongs to the histone H2B family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;G2/M DNA damage checkpoint;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Ub-specific processing proteases;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 1 +NX_Q16787 Laminin subunit alpha-3 3333 366649 7.03 0 Endoplasmic reticulum;Basement membrane Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional, Herlitz type Laminin-5 is thought to be involved in (1) cell adhesion via integrin alpha-3/beta-1 in focal adhesion and integrin alpha-6/beta-4 in hemidesmosomes, (2) signal transduction via tyrosine phosphorylation of pp125-FAK and p80, (3) differentiation of keratinocytes.;Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. NA NA Focal adhesion;ECM-receptor interaction;Toxoplasmosis;Amoebiasis;Pathways in cancer;Small cell lung cancer;Degradation of the extracellular matrix;ECM proteoglycans;Assembly of collagen fibrils and other multimeric structures;Type I hemidesmosome assembly;Non-integrin membrane-ECM interactions;Laminin interactions;Anchoring fibril formation;MET activates PTK2 signaling PE1 18 +NX_Q16790 Carbonic anhydrase 9 459 49698 4.64 1 Cell membrane;Nucleolus;Microvillus membrane;Cytosol;Nucleus NA Reversible hydration of carbon dioxide. Participates in pH regulation. May be involved in the control of cell proliferation and transformation. Appears to be a novel specific biomarker for a cervical neoplasia. Asn-346 bears high-mannose type glycan structures. Belongs to the alpha-carbonic anhydrase family. Nitrogen metabolism;Regulation of gene expression by Hypoxia-inducible Factor;Reversible hydration of carbon dioxide PE1 9 +NX_Q16795 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial 377 42510 9.81 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion Mitochondrial complex I deficiency, nuclear type 26 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Required for proper complex I assembly (PubMed:28671271). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Acetylated on lysine residues. BLOC1S1 is required for acetylation (PubMed:22309213). Acetylated by CLOCK in a circadian manner (PubMed:28985504). Belongs to the complex I NDUFA9 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 12 +NX_Q16798 NADP-dependent malic enzyme, mitochondrial 604 67068 8.16 0 Mitochondrion matrix NA NA NA Belongs to the malic enzymes family. Pyruvate metabolism;Metabolic pathways;Citric acid cycle (TCA cycle) PE1 11 +NX_Q16799 Reticulon-1 776 83618 4.62 2 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus;Golgi apparatus membrane NA May be involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. Isoforms RTN1-A and RTN1-B are phosphorylated. NA NA PE1 14 +NX_Q16816 Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform 387 45024 6.4 0 NA NA Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. In vitro, phosphorylates PYGM, TNNI3, MAPT/TAU, GAP43 and NRGN/RC3 (By similarity). NA Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Calcium signaling pathway;Insulin signaling pathway;Glycogen breakdown (glycogenolysis) PE1 7 +NX_Q16819 Meprin A subunit alpha 746 84419 5.43 1 Membrane NA NA N-glycosylated; contains GlcNAc, galactose, mannose and a small amount of fucose. NA Protein digestion and absorption PE1 6 +NX_Q16820 Meprin A subunit beta 701 79571 5.45 1 Secreted;Cell membrane NA Membrane metallopeptidase that sheds many membrane-bound proteins. Exhibits a strong preference for acidic amino acids at the P1' position. Known substrates include: FGF19, VGFA, IL1B, IL18, procollagen I and III, E-cadherin, KLK7, gastrin, ADAM10, tenascin-C. The presence of several pro-inflammatory cytokine among substrates implicate MEP1B in inflammation. It is also involved in tissue remodeling due to its capability to degrade extracellular matrix components. N-glycosylated; contains high mannose and/or complex biantennary structures.;O-glycosylation protect the C-terminal region from proteolytic cleavage and diminish secretion, this seems to be specific to human.;Proteolytically activated by trypsin in the intestinal lumen and kallikrein-related peptidases in other tissues. NA Protein digestion and absorption PE1 18 +NX_Q16821 Protein phosphatase 1 regulatory subunit 3A 1122 125767 4.91 1 Membrane Diabetes mellitus, non-insulin-dependent Seems to act as a glycogen-targeting subunit for PP1. PP1 is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Plays an important role in glycogen synthesis but is not essential for insulin activation of glycogen synthase (By similarity). Phosphorylation at Ser-46 by ISPK stimulates the dephosphorylation of glycogen synthase and phosphorylase kinase. NA Insulin signaling pathway PE1 7 +NX_Q16822 Phosphoenolpyruvate carboxykinase [GTP], mitochondrial 640 70699 7.57 0 Mitochondrion Mitochondrial phosphoenolpyruvate carboxykinase deficiency Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle. NA Belongs to the phosphoenolpyruvate carboxykinase [GTP] family. Carbohydrate biosynthesis; gluconeogenesis.;Glycolysis / Gluconeogenesis;Citrate cycle (TCA cycle);Pyruvate metabolism;Metabolic pathways;PPAR signaling pathway;Insulin signaling pathway;Adipocytokine signaling pathway;Proximal tubule bicarbonate reclamation;Gluconeogenesis PE1 14 +NX_Q16825 Tyrosine-protein phosphatase non-receptor type 21 1174 133281 8 0 Golgi apparatus;Cell membrane;Centriolar satellite;Nucleoplasm;Cytosol;Cytoskeleton NA NA PTPN21 is phosphorylated by BMX (Phosphotyrosine:PTM-0255) Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily. NA PE1 14 +NX_Q16827 Receptor-type tyrosine-protein phosphatase O 1216 138344 5.68 1 Membrane Nephrotic syndrome 6 Possesses tyrosine phosphatase activity. Plays a role in regulating the glomerular pressure/filtration rate relationship through an effect on podocyte structure and function (By similarity). NA Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily. Signaling by NTRK3 (TRKC) PE1 12 +NX_Q16828 Dual specificity protein phosphatase 6 381 42320 4.75 0 Nucleoplasm;Cytosol;Cytoplasm Hypogonadotropic hypogonadism 19 with or without anosmia Inactivates MAP kinases. Has a specificity for the ERK family (PubMed:9858808). Plays an important role in alleviating chronic postoperative pain. Necessary for the normal dephosphorylation of the long-lasting phosphorylated forms of spinal MAPK1/3 and MAP kinase p38 induced by peripheral surgery, which drives the resolution of acute postoperative allodynia (By similarity). Also important for dephosphorylation of MAPK1/3 in local wound tissue, which further contributes to resolution of acute pain (By similarity). Promotes cell differentiation by regulating MAPK1/MAPK3 activity and regulating the expression of AP1 transcription factors (PubMed:29043977). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. MAPK signaling pathway;RAF-independent MAPK1/3 activation;Negative regulation of MAPK pathway;ERKs are inactivated PE1 12 +NX_Q16829 Dual specificity protein phosphatase 7 419 44957 5.73 0 Cytoplasm NA Dual specificity protein phosphatase (PubMed:9788880). Shows high activity towards MAPK1/ERK2 (PubMed:9788880). Also has lower activity towards MAPK14 and MAPK8 (PubMed:9788880). In arrested oocytes, plays a role in meiotic resumption (By similarity). Promotes nuclear envelope breakdown and activation of the CDK1/Cyclin-B complex in oocytes, probably by dephosphorylating and inactivating the conventional protein kinase C (cPKC) isozyme PRKCB (By similarity). May also inactivate PRKCA and/or PRKCG (By similarity). Also important in oocytes for normal chromosome alignment on the metaphase plate and progression to anaphase, where it might regulate activity of the spindle-assembly checkpoint (SAC) complex (By similarity). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. MAPK signaling pathway;RAF-independent MAPK1/3 activation;Negative regulation of MAPK pathway;ERKs are inactivated PE1 3 +NX_Q16831 Uridine phosphorylase 1 310 33934 8.17 0 Nucleoplasm NA Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate (PubMed:7488099). The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis. NA Belongs to the PNP/UDP phosphorylase family. Pyrimidine metabolism; UMP biosynthesis via salvage pathway; uracil from uridine (phosphorylase route): step 1/1.;Pyrimidine metabolism;Drug metabolism - other enzymes;Metabolic pathways;Pyrimidine catabolism;Pyrimidine salvage PE1 7 +NX_Q16832 Discoidin domain-containing receptor 2 855 96736 5.2 1 Cell membrane;Cytoskeleton Spondyloepimetaphyseal dysplasia short limb-hand type;Warburg-Cinotti syndrome Tyrosine kinase involved in the regulation of tissues remodeling (PubMed:30449416). It functions as cell surface receptor for fibrillar collagen and regulates cell differentiation, remodeling of the extracellular matrix, cell migration and cell proliferation. Required for normal bone development. Regulates osteoblast differentiation and chondrocyte maturation via a signaling pathway that involves MAP kinases and leads to the activation of the transcription factor RUNX2. Regulates remodeling of the extracellular matrix by up-regulation of the collagenases MMP1, MMP2 and MMP13, and thereby facilitates cell migration and tumor cell invasion. Promotes fibroblast migration and proliferation, and thereby contributes to cutaneous wound healing. N-glycosylated.;Tyrosine phosphorylated in response to collagen binding. Phosphorylated by SRC; this is required for activation and subsequent autophosphorylation on additional tyrosine residues.;Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. Non-integrin membrane-ECM interactions PE1 1 +NX_Q16836 Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial 314 34294 8.88 0 Mitochondrion matrix;Mitochondrion Familial hyperinsulinemic hypoglycemia 4;3-alpha-hydroxyacyl-CoA dehydrogenase deficiency Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA. Succinylation at Lys-81, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity). Belongs to the 3-hydroxyacyl-CoA dehydrogenase family. Lipid metabolism; fatty acid beta-oxidation.;Fatty acid elongation;Fatty acid metabolism;Valine, leucine and isoleucine degradation;Lysine degradation;Tryptophan metabolism;Butanoate metabolism;Metabolic pathways;Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA;Beta oxidation of octanoyl-CoA to hexanoyl-CoA;Beta oxidation of hexanoyl-CoA to butanoyl-CoA;Beta oxidation of butanoyl-CoA to acetyl-CoA;Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA PE1 4 +NX_Q16842 CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 350 40173 8.59 1 Golgi stack membrane;Cytoplasmic vesicle;Secreted NA Responsible for the synthesis of the sequence NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- found in terminal carbohydrate groups of certain glycoproteins, oligosaccharides and glycolipids. SIAT4A and SIAT4B sialylate the same acceptor substrates but exhibit different Km values. The soluble form derives from the membrane form by proteolytic processing. Belongs to the glycosyltransferase 29 family. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Glycosaminoglycan biosynthesis - keratan sulfate;Glycosphingolipid biosynthesis - globo series;Glycosphingolipid biosynthesis - ganglio series;Metabolic pathways;Sialic acid metabolism;Termination of O-glycan biosynthesis;Keratan sulfate biosynthesis PE1 16 +NX_Q16849 Receptor-type tyrosine-protein phosphatase-like N 979 105848 6.67 1 Cell membrane;Perikaryon;Membrane;Endoplasmic reticulum;Endosome;Secretory vesicle membrane;Synapse;Axon;Nucleus NA ICA512-transmembrane fragment: ICA512-TMF regulates dynamics and exocytosis of insulin secretory granules (SGs); binding of ICA512-TMF to SNTB2/beta-2-syntrophin is proposed to restrain SGs mobility and exocytosis by tethering them to the actin cytoskeleton depending on UTRN; the function is inhibited by cytoplasmic ICA512-CFF dimerizing with ICA512-TMF and displacing SNTB2.;Plays a role in vesicle-mediated secretory processes (PubMed:24843546). Required for normal accumulation of secretory vesicles in hippocampus, pituitary and pancreatic islets (By similarity). Required for the accumulation of normal levels of insulin-containing vesicles and preventing their degradation (PubMed:24843546). Plays a role in insulin secretion in response to glucose stimuli (PubMed:24843546). Required for normal accumulation of the neurotransmitters norepinephrine, dopamine and serotonin in the brain (By similarity). In females, but not in males, required for normal accumulation and secretion of pituitary hormones, such as luteinizing hormone (LH) and follicle-stimulating hormone (FSH) (By similarity). Required to maintain normal levels of renin expression and renin release (By similarity). Seems to lack intrinsic enzyme activity (By similarity). May regulate catalytic active protein-tyrosine phosphatases such as PTPRA through dimerization (By similarity).;ICA512-cleaved cytosolic fragment: ICA512-CCF translocated to the nucleus promotes expression of insulin and other granule-related genes; the function implicates binding to and regulating activity of STAT5B probably by preventing its dephosphorylation and potentially by inducing its sumoylation by recruiting PIAS4 (PubMed:15596545, PubMed:16622421, PubMed:18178618). Enhances pancreatic beta-cell proliferation by converging with signaling by STAT5B and STAT3 (PubMed:15596545, PubMed:16622421, PubMed:18178618). ICA512-CCF located in the cytoplasm regulates dynamics and exocytosis of insulin secretory granules (SGs) by dimerizing with ICA512-TMF and displacing SNTB2 thus enhancing SGs mobility and exocytosis (PubMed:18824546, PubMed:20886068). Sumoylated at two sites including Lys-754. Sumoylation decreases interaction with STAT5.;O-glycosylated with core 1 or possibly core 8 glycans.;Subject to proteolytic cleavage at multiple sites (PubMed:11483505). Subject to cleavage on a pair of basic residues (By similarity). On exocytosis of secretory granules in pancreatic beta-cells ICA512-TMF is transiently inserted in the plasma-membrane and cleaved by mu-type calpain CPN1 to yield ICA512-CCF (By similarity).;N-glycosylated. Belongs to the protein-tyrosine phosphatase family. Receptor class 8 subfamily. Type I diabetes mellitus PE1 2 +NX_Q16850 Lanosterol 14-alpha demethylase 503 56806 8.72 1 Microsome membrane;Endoplasmic reticulum;Endoplasmic reticulum membrane NA Catalyzes C14-demethylation of lanosterol; it transforms lanosterol into 4,4'-dimethyl cholesta-8,14,24-triene-3-beta-ol. NA Belongs to the cytochrome P450 family. Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 1/6.;Steroid biosynthesis;Metabolic pathways;Endogenous sterols;Cholesterol biosynthesis;Activation of gene expression by SREBF (SREBP) PE1 7 +NX_Q16851 UTP--glucose-1-phosphate uridylyltransferase 508 56940 8.15 0 Cytoplasm;Nucleoplasm;Mitochondrion;Centrosome NA Plays a central role as a glucosyl donor in cellular metabolic pathways. NA Belongs to the UDPGP type 1 family. Pentose and glucuronate interconversions;Galactose metabolism;Starch and sucrose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Glycogen synthesis;Formation of the active cofactor, UDP-glucuronate PE1 2 +NX_Q16853 Membrane primary amine oxidase 763 84622 6.05 1 Golgi apparatus;Cytosol;Cell membrane NA Cell adhesion protein that participates in lymphocyte extravasation and recirculation by mediating the binding of lymphocytes to peripheral lymph node vascular endothelial cells in an L-selectin-independent fashion. Has semicarbazide-sensitive (SSAO) monoamine oxidase activity. May play a role in adipogenesis. N- and O-glycosylated.;Topaquinone (TPQ) is generated by copper-dependent autoxidation of a specific tyrosyl residue. Belongs to the copper/topaquinone oxidase family. Glycine, serine and threonine metabolism;Tyrosine metabolism;Phenylalanine metabolism;beta-Alanine metabolism;Metabolic pathways;Phase I - Functionalization of compounds PE1 17 +NX_Q16854 Deoxyguanosine kinase, mitochondrial 277 32056 8.76 0 Mitochondrion Mitochondrial DNA depletion syndrome 3;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4;Portal hypertension, non-cirrhotic Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine. In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on DGUOK and TK2. Phosphorylates certain nucleoside analogs. Widely used as target of antiviral and chemotherapeutic agents. NA Belongs to the DCK/DGK family. Purine metabolism;Metabolic pathways;Purine salvage PE1 2 +NX_Q16864 V-type proton ATPase subunit F 119 13370 5.29 0 NA NA Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. NA Belongs to the V-ATPase F subunit family. Oxidative phosphorylation;Metabolic pathways;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE1 7 +NX_Q16873 Leukotriene C4 synthase 150 16567 10.2 4 Nucleus outer membrane;Endoplasmic reticulum membrane;Nucleoplasm;Endoplasmic reticulum;Cytosol NA Catalyzes the conjugation of leukotriene A4 with reduced glutathione to form leukotriene C4. NA Belongs to the MAPEG family. Arachidonic acid metabolism;Metabolic pathways;Synthesis of Leukotrienes (LT) and Eoxins (EX);Synthesis of Lipoxins (LX);Synthesis of 5-eicosatetraenoic acids;Biosynthesis of maresin conjugates in tissue regeneration (MCTR);Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) PE1 5 +NX_Q16875 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 520 59609 8.49 0 Nucleoplasm NA Synthesis and degradation of fructose 2,6-bisphosphate. Phosphorylation by AMPK stimulates activity. In the C-terminal section; belongs to the phosphoglycerate mutase family. Fructose and mannose metabolism;Regulation of glycolysis by fructose 2,6-bisphosphate metabolism PE1 10 +NX_Q16877 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 469 54040 6.21 0 Nucleolus NA Synthesis and degradation of fructose 2,6-bisphosphate. NA In the C-terminal section; belongs to the phosphoglycerate mutase family. Fructose and mannose metabolism;Regulation of glycolysis by fructose 2,6-bisphosphate metabolism PE1 3 +NX_Q16878 Cysteine dioxygenase type 1 200 22972 6.11 0 Nucleoplasm;Cytosol NA Initiates several important metabolic pathways related to pyruvate and several sulfurate compounds including sulfate, hypotaurine and taurine. Critical regulator of cellular cysteine concentrations. Has an important role in maintaining the hepatic concentation of intracellular free cysteine within a proper narrow range. The thioether cross-link between Cys-93 and Tyr-157 plays a structural role through stabilizing the Fe(2+) ion, and prevents the production of highly damaging free hydroxyl radicals by holding the oxygen radical via hydroxyl hydrogen. Belongs to the cysteine dioxygenase family. Organosulfur biosynthesis; taurine biosynthesis; hypotaurine from L-cysteine: step 1/2.;Cysteine and methionine metabolism;Taurine and hypotaurine metabolism;Metabolic pathways;Degradation of cysteine and homocysteine PE1 5 +NX_Q16880 2-hydroxyacylsphingosine 1-beta-galactosyltransferase 541 61438 9.54 1 Membrane;Mitochondrion NA Catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central nervous system and peripheral nervous system. NA Belongs to the UDP-glycosyltransferase family. Sphingolipid metabolism; galactosylceramide biosynthesis.;Sphingolipid metabolism;Metabolic pathways;Glycosphingolipid metabolism PE1 4 +NX_Q16881 Thioredoxin reductase 1, cytoplasmic 649 70906 7.16 0 Cytoplasm;Nucleoplasm;Nucleus NA Also mediates cell death induced by a combination of interferon-beta and retinoic acid.;May possess glutaredoxin activity as well as thioredoxin reductase activity and induces actin and tubulin polymerization, leading to formation of cell membrane protrusions.;Enhances the transcriptional activity of estrogen receptors alpha and beta while isoform 5 enhances the transcriptional activity of the beta receptor only. ISGylated.;The N-terminus of isoform 5 is blocked. Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. Pyrimidine metabolism;Selenocompound metabolism;Detoxification of Reactive Oxygen Species;PPARA activates gene expression;Uptake and function of diphtheria toxin;TP53 Regulates Metabolic Genes;Interconversion of nucleotide di- and triphosphates;Metabolism of ingested H2SeO4 and H2SeO3 into H2Se;Metabolism of ingested MeSeO2H into MeSeH PE1 12 +NX_Q16890 Tumor protein D53 204 22449 5.45 0 Cytosol;Cell junction;Cell membrane NA NA NA Belongs to the TPD52 family. Golgi Associated Vesicle Biogenesis PE1 6 +NX_Q16891 MICOS complex subunit MIC60 758 83678 6.08 1 Mitochondrion inner membrane;Mitochondrion NA Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology (PubMed:22114354, PubMed:25781180). NA Belongs to the MICOS complex subunit Mic60 family. Cristae formation PE1 2 +NX_Q17R31 Putative deoxyribonuclease TATDN3 274 30333 6.67 0 Golgi apparatus;Nucleoplasm;Focal adhesion;Nucleus NA Putative deoxyribonuclease. NA Belongs to the metallo-dependent hydrolases superfamily. TatD-type hydrolase family. NA PE1 1 +NX_Q17R55 Protein FAM187B 369 42387 6.46 1 Membrane NA NA NA Belongs to the FAM187 family. NA PE1 19 +NX_Q17R60 Interphotoreceptor matrix proteoglycan 1 797 89387 4.79 0 Photoreceptor outer segment;Extracellular matrix;Secreted Macular dystrophy, vitelliform, 4 May interact with hyaluronan which may serve to form a basic macromolecular scaffold comprising the insoluble interphotoreceptor matrix. The N-terminus is blocked.;Highly glycosylated (N- and O-linked carbohydrates and sialic acid). NA NA PE1 6 +NX_Q17R89 Rho GTPase-activating protein 44 818 89247 6.13 0 Recycling endosome;Presynapse;Dendritic spine;Dendrite NA GTPase-activating protein (GAP) that stimulates the GTPase activity of Rho-type GTPases. Thereby, controls Rho-type GTPases cycling between their active GTP-bound and inactive GDP-bound states. Acts as a GAP at least for CDC42 and RAC1 (PubMed:11431473). In neurons, is involved in dendritic spine formation and synaptic plasticity in a specific RAC1-GAP activity (By similarity). Limits the initiation of exploratory dendritic filopodia. Recruited to actin-patches that seed filopodia, binds specifically to plasma membrane sections that are deformed inward by acto-myosin mediated contractile forces. Acts through GAP activity on RAC1 to reduce actin polymerization necessary for filopodia formation (By similarity). In association with SHANK3, promotes GRIA1 exocytosis from recycling endosomes and spine morphological changes associated to long-term potentiation (By similarity). NA NA Rho GTPase cycle PE1 17 +NX_Q17R98 Zinc finger protein 827 1081 119165 6.43 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 4 +NX_Q17RA5 Putative uncharacterized protein C21orf62-AS1 79 8913 7.76 0 NA NA NA NA NA NA PE5 21 +NX_Q17RB0 Retrotransposon Gag-like protein 8B 113 13246 5.17 0 NA NA NA NA Belongs to the FAM127 family. NA PE1 X +NX_Q17RB8 LON peptidase N-terminal domain and RING finger protein 1 773 86725 6.93 0 Cytosol;Centrosome;Cell membrane NA NA NA NA Antigen processing: Ubiquitination & Proteasome degradation PE1 8 +NX_Q17RC7 Exocyst complex component 3-like protein 4 722 79896 5.92 0 NA NA NA NA Belongs to the SEC6 family. NA PE1 14 +NX_Q17RD7 Synaptotagmin-16 645 72274 5.39 0 Cytosol NA May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent. NA Belongs to the synaptotagmin family. NA PE1 14 +NX_Q17RF5 Odontogenesis associated phosphoprotein 130 15556 10.51 0 Secreted Amelogenesis imperfecta, hypomaturation type, 2A4 May promote nucleation of hydroxyapatite. NA NA NA PE1 4 +NX_Q17RG1 BTB/POZ domain-containing protein KCTD19 926 104938 5.84 0 NA NA NA NA NA NA PE1 16 +NX_Q17RH7 Putative protein TPRXL 258 24139 11.48 0 NA NA NA NA NA NA PE5 3 +NX_Q17RM4 Coiled-coil domain-containing protein 142 750 81643 6.58 0 NA NA NA NA NA NA PE1 2 +NX_Q17RN3 Protein FAM98C 349 37329 6.89 0 Nucleoplasm;Cytosol;Nucleolus NA NA NA Belongs to the FAM98 family. NA PE1 19 +NX_Q17RP2 Tigger transposable element-derived protein 6 521 58656 6.34 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytoskeleton NA NA NA Belongs to the tigger transposable element derived protein family. NA PE1 5 +NX_Q17RQ9 NTPase KAP family P-loop domain-containing protein 1 610 67780 9.13 3 Membrane NA NA NA NA NA PE1 19 +NX_Q17RR3 Pancreatic lipase-related protein 3 467 52254 8.56 0 Secreted NA NA NA Belongs to the AB hydrolase superfamily. Lipase family. Glycerolipid metabolism;Metabolic pathways;Digestion of dietary lipid PE2 10 +NX_Q17RS7 Flap endonuclease GEN homolog 1 908 102884 8.04 0 Nucleoplasm;Nucleus NA Endonuclease which resolves Holliday junctions (HJs) by the introduction of symmetrically related cuts across the junction point, to produce nicked duplex products in which the nicks can be readily ligated. Four-way DNA intermediates, also known as Holliday junctions, are formed during homologous recombination and DNA repair, and their resolution is necessary for proper chromosome segregation (PubMed:19020614, PubMed:26682650). Cleaves HJs by a nick and counter-nick mechanism involving dual coordinated incisions that lead to the formation of ligatable nicked duplex products. Cleavage of the first strand is rate limiting, while second strand cleavage is rapid. Largely monomeric, dimerizes on the HJ and the first nick occurs upon dimerization at the junction (PubMed:26578604). Efficiently cleaves both single and double HJs contained within large recombination intermediates. Exhibits a weak sequence preference for incision between two G residues that reside in a T-rich region of DNA (PubMed:28049850). Has also endonuclease activity on 5'-flap and replication fork (RF) DNA substrates (PubMed:26578604). NA Belongs to the XPG/RAD2 endonuclease family. GEN subfamily. Resolution of D-loop Structures through Holliday Junction Intermediates PE1 2 +NX_Q17RW2 Collagen alpha-1(XXIV) chain 1714 175496 8.46 0 Extracellular matrix NA May participate in regulating type I collagen fibrillogenesis at specific anatomical locations during fetal development. NA Belongs to the fibrillar collagen family. Collagen biosynthesis and modifying enzymes;Assembly of collagen fibrils and other multimeric structures;MET activates PTK2 signaling;Collagen chain trimerization PE1 1 +NX_Q17RY0 Cytoplasmic polyadenylation element-binding protein 4 729 80152 6.7 0 Cytoplasm;Dendritic spine;Golgi apparatus;Perinuclear region;Growth cone;Endoplasmic reticulum;Nucleoplasm;Postsynaptic density;Cytoplasmic vesicle;Axon;Dendrite NA Sequence-specific RNA-binding protein that binds to the cytoplasmic polyadenylation element (CPE), an uridine-rich sequence element (consensus sequence 5'-UUUUUAU-3') within the mRNA 3'-UTR (PubMed:24990967). RNA binding results in a clear conformational change analogous to the Venus fly trap mechanism (PubMed:24990967). Regulates activation of unfolded protein response (UPR) in the process of adaptation to ER stress in liver, by maintaining translation of CPE-regulated mRNAs in conditions in which global protein synthesis is inhibited (By similarity). Required for cell cycle progression, specifically for cytokinesis and chromosomal segregation (PubMed:26398195). Plays a role as an oncogene promoting tumor growth and progression by positively regulating translation of t-plasminogen activator/PLAT (PubMed:22138752). Stimulates proliferation of melanocytes (PubMed:27857118). In contrast to CPEB1 and CPEB3, does not play role in synaptic plasticity, learning and memory (By similarity). NA Belongs to the RRM CPEB family. NA PE1 5 +NX_Q17RY6 Lymphocyte antigen 6K 165 18673 7.43 0 Cytoplasm;Cell membrane;Secreted;Nucleoplasm;Membrane raft;Acrosome NA Required for sperm migration into the oviduct and male fertility by controlling binding of sperm to zona pellucida (By similarity). May play a role in cell growth (PubMed:18089789). NA NA Post-translational modification: synthesis of GPI-anchored proteins PE1 8 +NX_Q18PE1 Protein Dok-7 504 53097 6.43 0 Nucleoplasm;Mitochondrion;Synapse;Cell membrane Myasthenic syndrome, congenital, 10;Fetal akinesia deformation sequence 3 Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK. DOK7 is phosphorylated by MUSK (Phosphotyrosine:PTM-0255) NA NA PE1 4 +NX_Q19AV6 Zinc finger SWIM domain-containing protein 7 140 15386 6.7 0 Cytosol;Nucleus NA Involved in early stages of the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. NA Belongs to the SWS1 family. NA PE1 17 +NX_Q19T08 Endothelial cell-specific chemotaxis regulator 205 21295 7.73 1 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Cell membrane NA Regulates endothelial chemotaxis and tube formation. Has a role in angiogenesis and apoptosis via modulation of the actin cytoskeleton and facilitation of proteasomal degradation of the apoptosis inhibitors BIRC3/IAP1 and BIRC2/IAP2. May be heavily O-glycosylated. Belongs to the ECSCR family. NA PE1 5 +NX_Q1A5X6 IQ domain-containing protein J 159 18226 9.52 0 NA NA NA NA NA NA PE2 3 +NX_Q1A5X7 Putative WASP homolog-associated protein with actin, membranes and microtubules-like protein 1 153 18091 5.71 0 Nucleus NA NA NA NA NA PE5 15 +NX_Q1AE95 Transmembrane protein 183B 376 42940 9.25 1 Membrane NA NA NA Belongs to the TMEM183 family. NA PE2 3 +NX_Q1ED39 Lysine-rich nucleolar protein 1 458 51589 9.86 0 Cytosol;Nucleolus NA NA NA NA NA PE1 16 +NX_Q1EHB4 Sodium-coupled monocarboxylate transporter 2 618 67647 8.44 13 Endoplasmic reticulum;Apical cell membrane NA Acts as an electroneutral and low-affinity sodium (Na(+))-dependent sodium-coupled solute transporter. Catalyzes the transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, nicotinate, propionate, butyrate and beta-D-hydroxybutyrate. May be responsible for the first step of reabsorption of monocarboxylates from the lumen of the proximal tubule of the kidney and the small intestine. May play also a role in monocarboxylates transport in the retina (By similarity). Mediates electroneutral uptake of lactate, with a stoichiometry of 2 Na(+) for each lactate (By similarity). NA Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. Multifunctional anion exchangers PE1 11 +NX_Q1HG43 Dual oxidase maturation factor 1 343 37815 6.3 5 Membrane NA May be required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX1. NA Belongs to the DUOXA family. NA PE1 15 +NX_Q1HG44 Dual oxidase maturation factor 2 320 34787 8.51 5 Endoplasmic reticulum membrane Thyroid dyshormonogenesis 5 Required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX2. May play a role in thyroid hormone synthesis. N-glycosylated. Belongs to the DUOXA family. NA PE1 15 +NX_Q1KMD3 Heterogeneous nuclear ribonucleoprotein U-like protein 2 747 85105 4.85 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 11 +NX_Q1L5Z9 LON peptidase N-terminal domain and RING finger protein 2 754 83654 5.65 0 Nucleoplasm NA NA NA NA NA PE1 2 +NX_Q1L6U9 Prostate-associated microseminoprotein 139 14993 6.96 0 Cytoplasmic vesicle;Cytosol;Secreted NA NA NA Belongs to the beta-microseminoprotein family. NA PE1 9 +NX_Q1MSJ5 Centrosome and spindle pole-associated protein 1 1256 145522 6.37 0 Spindle pole;Spindle;Centriolar satellite;Centrosome Joubert syndrome 21 May play a role in cell-cycle-dependent microtubule organization. Phosphorylated. Phosphorylation increases in colcemide-treated cells. NA NA PE1 8 +NX_Q1MX18 Protein inscuteable homolog 579 63469 5.37 0 Cytoplasm;Cell cortex NA May function as an adapter linking the Par3 complex to the GPSM1/GPSM2 complex (PubMed:16458856). Involved in spindle orientation during mitosis. May regulate cell proliferation and differentiation in the developing nervous system. May play a role in the asymmetric division of fibroblasts and participate in the process of stratification of the squamous epithelium (By similarity). NA NA NA PE1 11 +NX_Q1RMZ1 S-adenosylmethionine sensor upstream of mTORC1 405 46324 5.75 0 Cytosol NA S-adenosyl-L-methionine-binding protein that acts as an inhibitor of mTORC1 signaling via interaction with the GATOR1 and KICSTOR complexes (PubMed:29123071). Acts as a sensor of S-adenosyl-L-methionine to signal methionine sufficiency to mTORC1: in presence of methionine, binds S-adenosyl-L-methionine, leading to disrupt interaction with the GATOR1 and KICSTOR complexes and promote mTORC1 signaling (PubMed:29123071). Upon methionine starvation, S-adenosyl-L-methionine levels are reduced, thereby promoting the association with GATOR1 and KICSTOR, leading to inhibit mTORC1 signaling (PubMed:29123071). Probably also acts as a S-adenosyl-L-methionine-dependent methyltransferase (Potential). NA Belongs to the BMT2 family. NA PE1 7 +NX_Q1RN00 Putative uncharacterized protein LOC151760 199 22217 9.19 0 NA NA NA NA NA NA PE1 3 +NX_Q1T7F1 Putative chemokine-related protein B42 81 8815 6.05 0 Cytoplasm NA NA NA NA NA PE5 19 +NX_Q1W209 Embryonic stem cell-related gene protein 222 24186 9.39 0 Nucleus NA NA NA NA NA PE2 3 +NX_Q1W4C9 Serine protease inhibitor Kazal-type 13 94 11051 8.51 0 Nucleoplasm;Secreted;Cell membrane NA May be a serine protease inhibitor (By similarity). Essential for sperm maturation and fertility. Inhibits sperm acrosome reaction, protecting sperm from premature reaction (By similarity). NA NA NA PE1 5 +NX_Q1W6H9 Protein FAM110C 321 33863 9.93 0 Spindle pole;Centrosome;Nucleus;Cytoskeleton NA May play a role in microtubule organization. May play a role in cell spreading and cell migration of epithelial cells; the function may involve the AKT1 signaling pathway. NA Belongs to the FAM110 family. NA PE1 2 +NX_Q1X8D7 Leucine-rich repeat-containing protein 36 754 83823 6.68 0 NA NA NA NA NA NA PE1 16 +NX_Q1XH10 SKI/DACH domain-containing protein 1 908 98148 8.68 0 Nucleoplasm;Cytosol;Nucleus NA NA NA Belongs to the DACH/dachshund family. NA PE1 10 +NX_Q1ZYL8 Izumo sperm-egg fusion protein 4 232 26510 7.18 0 Secreted NA NA NA Belongs to the Izumo family. Acrosome Reaction and Sperm:Oocyte Membrane Binding PE1 19 +NX_Q1ZZU3 DNA repair protein SWI5 homolog 235 26739 10.25 0 Nucleoplasm;Cytosol;Nucleus NA Component of the SWI5-SFR1 complex, a complex required for double-strand break repair via homologous recombination. NA Belongs to the SWI5/SAE3 family. NA PE1 9 +NX_Q24JP5 Transmembrane protein 132A 1023 110110 5.43 1 Endoplasmic reticulum membrane;Mitochondrion;Golgi apparatus membrane NA May play a role in embryonic and postnatal development of the brain. Increased resistance to cell death induced by serum starvation in cultured cells. Regulates cAMP-induced GFAP gene expression via STAT3 phosphorylation (By similarity). NA Belongs to the TMEM132 family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 11 +NX_Q24JQ0 Transmembrane protein 241 296 32647 8.97 10 Membrane;Cytoplasmic vesicle;Golgi apparatus NA NA NA Belongs to the TMEM241 family. NA PE2 18 +NX_Q27J81 Inverted formin-2 1249 135624 5.26 0 Endoplasmic reticulum;Perinuclear region;Nucleus Charcot-Marie-Tooth disease, dominant, intermediate type, E;Focal segmental glomerulosclerosis 5 Severs actin filaments and accelerates their polymerization and depolymerization. NA Belongs to the formin homology family. NA PE1 14 +NX_Q29974 HLA class II histocompatibility antigen, DRB1-16 beta chain 266 30030 7.64 1 Endoplasmic reticulum membrane;Endosome membrane;Cell membrane;Lysosome membrane;trans-Golgi network membrane;Late endosome membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II. Belongs to the MHC class II family. MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_Q29980 MHC class I polypeptide-related sequence B 383 42646 6.5 1 Cell membrane Rheumatoid arthritis Seems to have no role in antigen presentation. Acts as a stress-induced self-antigen that is recognized by gamma delta T cells. Ligand for the KLRK1/NKG2D receptor. Binding to KLRK1 leads to cell lysis. Proteolytically cleaved and released from the cell surface of tumor cells. Belongs to the MHC class I family. MIC subfamily. Natural killer cell mediated cytotoxicity;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 6 +NX_Q29983 MHC class I polypeptide-related sequence A 383 42915 6.49 1 Cytoplasm;Cell membrane Psoriatic arthritis;Psoriasis 1 Seems to have no role in antigen presentation. Acts as a stress-induced self-antigen that is recognized by gamma delta T-cells. Ligand for the KLRK1/NKG2D receptor. Binding to KLRK1 leads to cell lysis. N-glycosylated. Glycosylation is not essential for interaction with KLRK1/NKG2D but enhances complex formation.;Proteolytically cleaved and released from the cell surface of tumor cells which impairs KLRK1/NKG2D expression and T-cell activation. Belongs to the MHC class I family. MIC subfamily. Natural killer cell mediated cytotoxicity;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 6 +NX_Q29RF7 Sister chromatid cohesion protein PDS5 homolog A 1337 150830 8.15 0 Nucleoplasm;Nucleus NA Probable regulator of sister chromatid cohesion in mitosis which may stabilize cohesin complex association with chromatin. May couple sister chromatid cohesion during mitosis to DNA replication. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. NA Belongs to the PDS5 family. Separation of Sister Chromatids;Establishment of Sister Chromatid Cohesion;Cohesin Loading onto Chromatin;Resolution of Sister Chromatid Cohesion PE1 4 +NX_Q2HXU8 C-type lectin domain family 12 member B 276 31616 5.5 1 Cell membrane NA Cell surface receptor that protects target cells against natural killer cell-mediated lysis. Modulates signaling cascades and mediates tyrosine phosphorylation of target MAP kinases. NA NA NA PE1 12 +NX_Q2I0M4 Leucine-rich repeat-containing protein 26 334 34857 9.6 1 Cytoskeleton;Nucleolus;Cell membrane NA Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Required for the conversion of BK alpha channels from a high-voltage to a low-voltage activated channel type in non-excitable cells. These are characterized by negative membrane voltages and constant low levels of calcium. NA NA NA PE1 9 +NX_Q2I0M5 R-spondin-4 234 26171 9.38 0 Secreted Nail disorder, non-syndromic congenital, 4 Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors (PubMed:29769720). Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway (PubMed:21727895, PubMed:21909076). Tyr-112 may be phosphorylated; however as this position is probably extracellular, the vivo relevance is not proven. Belongs to the R-spondin family. Regulation of FZD by ubiquitination PE1 20 +NX_Q2KHM9 Protein moonraker 967 109407 7.6 0 Cytosol;Centrosome;Centriolar satellite;Centriole Orofaciodigital syndrome 15 Involved in centriole duplication. Positively regulates CEP63 centrosomal localization. Required for WDR62 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:24613305, PubMed:26297806). NA NA NA PE1 17 +NX_Q2KHN1 RING finger protein 151 245 27412 9.07 0 Cytoplasm;Nucleus NA May be involved in acrosome formation of spermatids. NA NA NA PE1 16 +NX_Q2KHR2 DNA-binding protein RFX7 1363 146896 6.29 0 Nucleoplasm;Nucleus membrane;Nucleus NA NA NA Belongs to the RFX family. NA PE1 15 +NX_Q2KHR3 Glutamine and serine-rich protein 1 1735 189972 6.61 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 11 +NX_Q2KHT3 Protein CLEC16A 1053 117715 5.55 0 Cytoplasmic vesicle;Nucleoplasm;Lysosome membrane;Endosome membrane Diabetes mellitus, insulin-dependent Regulator of mitophagy through the upstream regulation of the RNF41/NRDP1-PRKN pathway. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control. The RNF41/NRDP1-PRKN pathway regulates autophagosome-lysosome fusion during late mitophagy. May protect RNF41/NRDP1 from proteosomal degradation, RNF41/NRDP1 which regulates proteosomal degradation of PRKN. Plays a key role in beta cells functions by regulating mitophagy/autophagy and mitochondrial health. NA Belongs to the CLEC16A/gop-1 family. NA PE1 16 +NX_Q2KHT4 Germ cell-specific gene 1 protein 349 39248 8.25 4 Endoplasmic reticulum membrane NA May cause the redistribution of PAPOLB from the cytosol to the endoplasmic reticulum. NA Belongs to the GSG1 family. NA PE1 12 +NX_Q2KJY2 Kinesin-like protein KIF26B 2108 223883 8.76 0 Cytoplasm;Cell membrane;Cytoskeleton NA Essential for embryonic kidney development. Plays an important role in the compact adhesion between mesenchymal cells adjacent to the ureteric buds, possibly by interacting with MYH10. This could lead to the establishment of the basolateral integrity of the mesenchyme and the polarized expression of ITGA8, which maintains the GDNF expression required for further ureteric bud attraction. Although it seems to lack ATPase activity it is constitutively associated with microtubules (By similarity). Polyubiquitinated by NEDD4, resulting in proteasomal degradation.;Phosphorylation at Thr-1855 and Ser-1958 by CDKs, mainly CDK2 and CDK5, enhances the interaction with NEDD4, polyubiquitination, and subsequent proteasomal degradation. Phosphorylation occurs upon loss of interaction with microtubules (By similarity). Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KIF26 subfamily. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 1 +NX_Q2L4Q9 Serine protease 53 553 58410 5.46 0 Secreted NA In vitro can degrade the fibrinogen alpha chain of as well as pro-urokinase-type plasminogen activator. NA Belongs to the peptidase S1 family. NA PE2 16 +NX_Q2LD37 Transmembrane protein KIAA1109 5005 555482 6.12 1 Membrane;Nucleoplasm;Centrosome Alkuraya-Kucinskas syndrome NA NA NA NA PE1 4 +NX_Q2M1K9 Zinc finger protein 423 1284 144605 6.43 0 Nucleoplasm;Nucleus Joubert syndrome 19;Nephronophthisis 14 Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a developmental switch that regulates the transition from differentiation to maturation in olfactory receptor neurons. Controls proliferation and differentiation of neural precursors in cerebellar vermis formation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 16 +NX_Q2M1P5 Kinesin-like protein KIF7 1343 150587 6.37 0 Cilium;Cilium basal body Al-Gazali-Bakalinova syndrome;Hydrolethalus syndrome 2;Joubert syndrome 12;Bardet-Biedl syndrome;Acrocallosal syndrome Essential for hedgehog signaling regulation: acts as both a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms (PubMed:21633164). Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes (By similarity). Required for localization of GLI3 to cilia in response to Shh. Negatively regulates Shh signaling by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates Shh signaling by preventing the processing of the transcription factor GLI3 into its repressor form. In keratinocytes, promotes the dissociation of SUFU-GLI2 complexes, GLI2 nuclear translocation and Shh signaling activation (By similarity). Involved in the regulation of epidermal differentiation and chondrocyte development (By similarity). Polyubiquitinated by UBR3. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KIF27 subfamily. Hedgehog 'on' state;Hedgehog 'off' state PE1 15 +NX_Q2M1V0 Intestine-specific homeobox 245 27011 8.91 0 Nucleoplasm;Nucleus NA Transcription factor that regulates gene expression in intestine. May participate in vitamin A metabolism most likely by regulating BCO1 expression in the intestine (By similarity). NA NA NA PE2 22 +NX_Q2M1Z3 Rho GTPase-activating protein 31 1444 156985 5.55 0 Lamellipodium;Focal adhesion Adams-Oliver syndrome 1 Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarized lamellipodia formation and cell migration. Phosphorylation on Thr-789 reduces GAP activity. NA Rho GTPase cycle PE1 3 +NX_Q2M218 Zinc finger protein 630 657 76094 9.07 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 X +NX_Q2M238 Putative RRN3-like protein RRN3P1 152 17255 9.03 0 NA NA NA NA Belongs to the RRN3 family. NA PE5 16 +NX_Q2M243 Coiled-coil domain-containing protein 27 656 75354 5.53 0 NA NA NA NA NA NA PE1 1 +NX_Q2M296 Methenyltetrahydrofolate synthase domain-containing protein 383 42173 8.93 0 Nucleoplasm;Cytoplasmic vesicle NA NA NA NA NA PE1 16 +NX_Q2M2D7 TBC1 domain family member 28 210 24072 9.69 0 NA NA NA NA NA NA PE2 17 +NX_Q2M2E3 Outer dense fiber protein 4 257 29233 6.71 3 Membrane NA Component of the outer dense fibers (ODF) of spermatozoa which could be involved in sperm tail structure, sperm movement and general organization of cellular cytoskeleton. NA NA NA PE1 17 +NX_Q2M2E5 Uncharacterized protein C5orf64 130 14817 9.54 0 Secreted NA NA NA NA NA PE2 5 +NX_Q2M2H8 Probable maltase-glucoamylase 2 2515 277990 5.02 1 Membrane;Cytoplasmic vesicle;Cytosol NA NA NA Belongs to the glycosyl hydrolase 31 family. NA PE1 7 +NX_Q2M2I3 Protein FAM83E 478 51780 9.42 0 NA NA May play a role in MAPK signaling. NA Belongs to the FAM83 family. NA PE1 19 +NX_Q2M2I5 Keratin, type I cytoskeletal 24 525 55087 4.89 0 Cytosol;Cytoskeleton NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_Q2M2I8 AP2-associated protein kinase 1 961 103885 6.16 0 Presynapse;Cell membrane;Clathrin-coated pit;Cytosol NA Display similar levels of kinase activity towards AP2M1. Regulates phosphorylation of other AP-2 subunits as well as AP-2 localization and AP-2-mediated internalization of ligand complexes. Phosphorylates NUMB and regulates its cellular localization, promoting NUMB localization to endosomes. Binds to and stabilizes the activated form of NOTCH1, increases its localization in endosomes and regulates its transcriptional activity.;Regulates clathrin-mediated endocytosis by phosphorylating the AP2M1/mu2 subunit of the adaptor protein complex 2 (AP-2) which ensures high affinity binding of AP-2 to cargo membrane proteins during the initial stages of endocytosis. Autophosphorylated. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 2 +NX_Q2M2W7 UPF0450 protein C17orf58 97 11219 10.7 0 Cytosol;Cell membrane NA NA NA Belongs to the UPF0450 family. NA PE1 17 +NX_Q2M2Z5 Centrosomal protein kizuna 673 75111 5.44 0 Centrosome;Cilium basal body Retinitis pigmentosa 69 Centrosomal protein required for establishing a robust mitotic centrosome architecture that can endure the forces that converge on the centrosomes during spindle formation. Required for stabilizing the expanded pericentriolar material around the centriole. Phosphorylation at Thr-379 by PLK1 is not needed for centrosomal localization or pericentriolar material expansion but is indispensable for spindle-pole stabilization. Belongs to the kizuna family. NA PE1 20 +NX_Q2M329 Coiled-coil domain-containing protein 96 555 62711 4.92 0 Centrosome NA NA NA NA NA PE1 4 +NX_Q2M385 Macrophage-expressed gene 1 protein 716 78587 7.77 1 Cytoplasmic vesicle membrane NA Plays a key role in the innate immune response following bacterial infection by inserting into the bacterial surface to form pores (By similarity). By breaching the surface of phagocytosed bacteria, allows antimicrobial effectors to enter the bacterial periplasmic space and degrade bacterial proteins such as superoxide dismutase sodC which contributes to bacterial virulence (By similarity). Shows antibacterial activity against a wide spectrum of Gram-positive, Gram-negative and acid-fast bacteria (PubMed:23753625, PubMed:26402460, PubMed:30609079). Reduces the viability of the intracytosolic pathogen L.monocytogenes by inhibiting acidification of the phagocytic vacuole of host cells which restricts bacterial translocation from the vacuole to the cytosol (By similarity). Required for the antibacterial activity of reactive oxygen species and nitric oxide (By similarity). Monoubiquitinated in response to bacterial infection; ubiquitination is required for vesicular localization and antibacterial activity and can be blocked by bacterial cell cycle inhibiting factor (cif) (By similarity). Belongs to the MPEG1 family. NA PE1 11 +NX_Q2M389 WASH complex subunit 4 1173 136403 7.1 0 Nucleoplasm;Early endosome Mental retardation, autosomal recessive 43 Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in the regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093). NA Belongs to the SWIP family. NA PE1 12 +NX_Q2M3A8 Putative uncharacterized protein MRGPRG-AS1 158 16456 6.69 0 NA NA NA NA NA NA PE5 11 +NX_Q2M3C6 Transmembrane protein 266 531 58444 4.63 4 Cytosol;Perikaryon;Dendrite;Cell membrane NA Voltage-sensor protein present on the post-synaptic side of glutamatergic mossy fibers and granule cells in the cerebellum (PubMed:25165868, PubMed:30810529). Despite the presence of a voltage-sensor segment, does not form a functional ion channel and its precise role remains unclear (PubMed:25165868, PubMed:30810529). Undergoes both rapid and slow structural rearrangements in response to changes in voltage (PubMed:30810529). Contains a zinc-binding site that can regulate the slow conformational transition (PubMed:30810529). NA NA NA PE1 15 +NX_Q2M3C7 A-kinase anchor protein SPHKAP 1700 186456 5.04 0 Cytoplasm NA Anchoring protein that binds preferentially to the type I regulatory subunit of c-AMP-dependent protein kinase (PKA type I) and targets it to distinct subcellular compartments. May act as a converging factor linking cAMP and sphingosine signaling pathways. Plays a regulatory role in the modulation of SPHK1. NA Belongs to the AKAP110 family. NA PE1 2 +NX_Q2M3D2 Exocyst complex component 3-like protein 2 409 45859 7.65 0 Nucleoplasm;Golgi apparatus;Cytosol;Cytoplasmic vesicle NA NA NA Belongs to the SEC6 family. NA PE1 19 +NX_Q2M3G0 ATP-binding cassette sub-family B member 5 1257 138641 7.29 11 Cell membrane NA Drug efflux transporter present in a number of stem cells that acts as a regulator of cellular differentiation. Able to mediate efflux from cells of the rhodamine dye and of the therapeutic drug doxorubicin. Specifically present in limbal stem cells, where it plays a key role in corneal development and repair. NA Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. ABC transporters;ABC-family proteins mediated transport PE1 7 +NX_Q2M3G4 Protein Shroom1 852 90786 5.81 0 Cytoplasmic vesicle;Cytoskeleton NA May be involved in the assembly of microtubule arrays during cell elongation. NA Belongs to the shroom family. NA PE1 5 +NX_Q2M3M2 Sodium/glucose cotransporter 4 681 74073 6.71 14 Membrane;Cytosol;Cytoskeleton NA Involved in sodium-dependent transport of D-mannose, D-glucose and D-fructose. NA Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. Cellular hexose transport PE1 1 +NX_Q2M3R5 Solute carrier family 35 member G1 365 39836 8.46 10 Endoplasmic reticulum membrane;Cell membrane NA May play a role in intracellular calcium sensing and homeostasis. May act as a negative regulator of plasma membrane calcium-transporting ATPases preventing calcium efflux from the cell. NA Belongs to the TMEM20 family. NA PE1 10 +NX_Q2M3T9 Hyaluronidase-4 481 54249 8.68 2 Membrane NA Endo-hyaluronidase that degrades hyaluronan to smaller oligosaccharide fragments. Has also chondroitin sulfate hydrolase activity, The best substrate being the galactosaminidic linkage in the sequence of a trisulfated tetrasaccharide. NA Belongs to the glycosyl hydrolase 56 family. Glycosaminoglycan degradation;Metabolic pathways PE1 7 +NX_Q2M3V2 Ankyrin repeat domain-containing protein SOWAHA 549 57443 10.19 0 NA NA NA NA Belongs to the SOWAH family. NA PE1 5 +NX_Q2M3W8 Zinc finger protein 181 571 65842 9.12 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q2M3X9 Zinc finger protein 674 581 67199 9.32 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 X +NX_Q2M5E4 Regulator of G-protein signaling 21 152 17671 6.6 0 NA NA Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. NA NA G alpha (i) signalling events;G alpha (q) signalling events PE2 1 +NX_Q2MJR0 Sprouty-related, EVH1 domain-containing protein 3 410 42670 8.67 0 Membrane;Nucleoplasm;Cytosol;Cell membrane NA Tyrosine kinase substrate that inhibits growth-factor-mediated activation of MAP kinase. Phosphorylated on tyrosine. NA Regulation of RAS by GAPs;Signaling by RAS mutants PE1 19 +NX_Q2MKA7 R-spondin-1 263 28959 9.46 0 Secreted;Nucleus Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors (PubMed:29769720). Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May negatively regulate the TGF-beta pathway. Has a essential roles in ovary determination. Regulates Wnt signaling by antagonizing DKK1/KREM1-mediated internalization of LRP6 through an interaction with KREM1 (PubMed:17804805). NA Belongs to the R-spondin family. Regulation of FZD by ubiquitination PE1 1 +NX_Q2MV58 Tectonic-1 587 63570 5.32 0 Nucleoplasm;Secreted;Cilium basal body;Cytoskeleton Joubert syndrome 13 Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Regulator of Hedgehog (Hh), required for both activation and inhibition of the Hh pathway in the patterning of the neural tube. During neural tube development, it is required for formation of the most ventral cell types and for full Hh pathway activation. Functions in Hh signal transduction to fully activate the pathway in the presence of high Hh levels and to repress the pathway in the absence of Hh signals. Modulates Hh signal transduction downstream of SMO and RAB23 (By similarity). NA Belongs to the tectonic family. Anchoring of the basal body to the plasma membrane PE1 12 +NX_Q2NKJ3 CST complex subunit CTC1 1217 134609 8.23 0 Telomere;Nucleus Cerebroretinal microangiopathy with calcifications and cysts 1 Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation (PubMed:19854130). However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3' overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha (PubMed:22763445). The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins (PubMed:25483097). Involved in telomere maintenance (PubMed:19854131, PubMed:22863775). Involved in genome stability (PubMed:22863775). May be in involved in telomeric C-strand fill-in during late S/G2 phase (By similarity). NA Belongs to the CTC1 family. NA PE1 17 +NX_Q2NKQ1 Small G protein signaling modulator 1 1148 129718 5.43 0 trans-Golgi network;Cytoplasmic vesicle membrane;Cytoplasm NA Interacts with numerous Rab family members, functioning as Rab effector for some, and as GTPase activator for others. Promotes GTP hydrolysis by RAB34 and RAB36. Probably functions as GTPase effector with RAB9A and RAB9B; does not stimulate GTP hydrolysis with RAB9A and RAB9B. NA Belongs to the RUTBC family. NA PE1 22 +NX_Q2NKX8 DNA excision repair protein ERCC-6-like 1250 141103 5.19 0 Chromosome;Nucleoplasm;Centromere;Centrosome;Cytosol;Kinetochore NA DNA helicase that acts as an essential component of the spindle assembly checkpoint. Contributes to the mitotic checkpoint by recruiting MAD2 to kinetochores and monitoring tension on centromeric chromatin (PubMed:17218258). Acts as a tension sensor that associates with catenated DNA which is stretched under tension until it is resolved during anaphase (PubMed:17218258, PubMed:23973328). Functions as ATP-dependent DNA translocase (PubMed:23973328, PubMed:28977671). Can promote Holliday junction branch migration (in vitro) (PubMed:23973328). Phosphorylation by PLK1 prevents the association with chromosome arms and restricts its localization to the kinetochore-centromere region. Belongs to the SNF2/RAD54 helicase family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 X +NX_Q2NKX9 UPF0561 protein C2orf68 166 18751 8.44 0 Nucleoplasm;Nucleus membrane;Nucleolus;Mitochondrion NA NA NA Belongs to the UPF0561 family. NA PE1 2 +NX_Q2NL67 Protein mono-ADP-ribosyltransferase PARP6 630 71115 8.6 0 Cell membrane NA Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins. Auto-mono-ADP-ribosylated. NA Nicotinamide salvaging PE1 15 +NX_Q2NL68 Proline and serine-rich protein 3 480 51075 6.63 0 Golgi apparatus NA NA NA NA NA PE1 19 +NX_Q2NL82 Pre-rRNA-processing protein TSR1 homolog 804 91810 6.98 0 Nucleoplasm;Nucleolus NA Required during maturation of the 40S ribosomal subunit in the nucleolus. NA Belongs to the TRAFAC class translation factor GTPase superfamily. Bms1-like GTPase family. TSR1 subfamily. Major pathway of rRNA processing in the nucleolus and cytosol PE1 17 +NX_Q2NL98 Vimentin-type intermediate filament-associated coiled-coil protein 169 18348 5.44 0 Cytoplasm NA NA NA NA NA PE1 19 +NX_Q2PPJ7 Ral GTPase-activating protein subunit alpha-2 1873 210770 5.74 0 Cytoplasm;Cytosol;Cell membrane NA Catalytic subunit of the heterodimeric RalGAP2 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB. NA NA Translocation of SLC2A4 (GLUT4) to the plasma membrane PE1 20 +NX_Q2PZI1 Probable C-mannosyltransferase DPY19L1 675 77319 9.13 11 Membrane;Cytoplasmic vesicle NA Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins. NA Belongs to the dpy-19 family. NA PE1 7 +NX_Q2Q1W2 E3 ubiquitin-protein ligase TRIM71 868 93385 7.57 0 P-body;Focal adhesion;Cytoskeleton;Cell membrane NA E3 ubiquitin-protein ligase that cooperates with the microRNAs (miRNAs) machinery and promotes embryonic stem cells proliferation and maintenance (Probable). Binds to miRNAs and associates with AGO2, participating in post-transcriptional repression of transcripts such as CDKN1A (By similarity). In addition, participates in post-transcriptional mRNA repression in a miRNA independent mechanism (PubMed:23125361). Facilitates the G1-S transition to promote rapid embryonic stem cell self-renewal by repressing CDKN1A expression. Required to maintain proliferation and prevent premature differentiation of neural progenitor cells during early neural development: positively regulates FGF signaling by controlling the stability of SHCBP1 (By similarity). Specific regulator of miRNA biogenesis. Binds to miRNA MIR29A hairpin and postranscriptionally modulates MIR29A levels, which indirectly regulates TET proteins expression (PubMed:28431233). Autoubiquitinated. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 3 +NX_Q2QD12 Ribulose-phosphate 3-epimerase-like protein 1 228 25023 5.21 0 NA NA Catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate. NA Belongs to the ribulose-phosphate 3-epimerase family. Carbohydrate degradation.;Pentose phosphate pathway PE1 10 +NX_Q2QGD7 Zinc finger protein ZXDC 858 89988 8.48 0 Nucleolus;Nucleus NA Cooperates with CIITA to promote transcription of MHC class I and MHC class II genes. Sumoylated at Lys-660 with SUMO1, SUMO2 and SUMO3; sumoylation enhances the activity of the transcriptional activation domain. Belongs to the ZXD family. NA PE1 3 +NX_Q2QL34 Mpv17-like protein 196 22116 9.92 4 Peroxisome membrane;Cytoplasmic vesicle NA Participates in reactive oxygen species metabolism by up- or down-regulation of the genes of antioxidant enzymes. NA Belongs to the peroxisomal membrane protein PXMP2/4 family. Peroxisome PE1 16 +NX_Q2T9J0 Peroxisomal leader peptide-processing protease 566 59309 5.82 0 Nucleoplasm;Cytosol;Peroxisome;Centrosome NA Peroxisomal protease that mediates both the removal of the leader peptide from proteins containing a PTS2 target sequence and processes several PTS1-containing proteins. Catalyzes the processing of PTS1-proteins involved in the peroxisomal beta-oxidation of fatty acids. Self-cleavage gives rise to an N-terminal 15-kDa fragment and C-terminal 45-kDa fragment upon import into the peroxisomes. The full-lengh TYSND1 is the active the proteolytic processing of PTS1- and PTS2-proteins and in self-cleavage, and intermolecular self-cleavage of TYSND1 down-regulates its protease activity. Belongs to the peptidase S1B family. Peroxisomal protein import;TYSND1 cleaves peroxisomal proteins PE1 10 +NX_Q2T9K0 Transmembrane protein 44 475 52201 8.12 7 Membrane;Cytosol NA NA NA NA NA PE1 3 +NX_Q2T9L4 Inhibitory synaptic factor 1 293 31928 4.91 0 Nucleoplasm;Cytosol;Postsynaptic density NA Component of the protein machinery at the inhibitory synapses, probably acting as a scaffold. Inhibitory synapses dampen neuronal activity through postsynaptic hyperpolarization. This synaptic inhibition is fundamental for the functioning of the central nervous system, shaping and orchestrating the flow of information through neuronal networks to generate a precise neural code. NA Belongs to the INSYN1 family. NA PE2 15 +NX_Q2TAA2 Isoamyl acetate-hydrolyzing esterase 1 homolog 248 27599 5.13 0 Nucleoplasm NA Probable lipase. NA Belongs to the 'GDSL' lipolytic enzyme family. IAH1 subfamily. NA PE1 2 +NX_Q2TAA5 GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase 492 55651 8.78 2 Endoplasmic reticulum;Endoplasmic reticulum membrane Congenital disorder of glycosylation 1P Mannosyltransferase involved in the last steps of the synthesis of Man5GlcNAc(2)-PP-dolichol core oligosaccharide on the cytoplasmic face of the endoplasmic reticulum. Catalyzes the addition of the 4th and 5th mannose residues to the dolichol-linked oligosaccharide chain. NA Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily. N-Glycan biosynthesis;Metabolic pathways;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein;Defective ALG11 causes ALG11-CDG (CDG-1p) PE1 13 +NX_Q2TAA8 Translin-associated factor X-interacting protein 1 658 76773 4.99 0 Nucleoplasm;Cytosol;Perinuclear region NA Possible role in spermatogenesis. NA NA NA PE1 16 +NX_Q2TAC2 Coiled-coil domain-containing protein 57 915 103039 6.13 0 Cytosol;Centriolar satellite;Cytoskeleton NA NA NA NA NA PE1 17 +NX_Q2TAC6 Kinesin-like protein KIF19 998 111332 8.87 0 Cell membrane;Centrosome;Cilium;Cytoskeleton NA Plus end-directed microtubule-dependent motor protein that regulates the length of motile cilia by mediating depolymerization of microtubules at ciliary tips. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 17 +NX_Q2TAK8 PWWP domain-containing DNA repair factor 3A 710 78636 8.83 0 Nucleoplasm;Cytosol;Nucleus NA Involved in the DNA damage response pathway by contributing to the maintenance of chromatin architecture. Recruited to the vicinity of DNA breaks by TP53BP1 and plays an accessory role to facilitate damage-induced chromatin changes and promoting chromatin relaxation. Required for efficient DNA repair and cell survival following DNA damage. NA Belongs to the PWWP3A family. NA PE1 19 +NX_Q2TAL5 Smoothelin-like protein 2 461 50196 8.8 0 NA NA NA NA Belongs to the smoothelin family. NA PE1 17 +NX_Q2TAL6 Brorin 325 35282 5.29 0 Basement membrane;Synapse NA BMP antagonist which may play a role in neural development. Promotes cell adhesion (By similarity). NA NA NA PE1 7 +NX_Q2TAL8 Glutamine-rich protein 1 776 86436 5.59 0 Nucleoplasm Ververi-Brady syndrome NA NA NA NA PE1 3 +NX_Q2TAM9 Tumor suppressor candidate gene 1 protein 212 23390 11.18 0 Nucleoplasm;Cytoplasmic vesicle NA NA NA NA NA PE1 9 +NX_Q2TAP0 Golgin subfamily A member 7B 167 18335 5.77 0 Golgi apparatus membrane NA May be involved in protein transport from Golgi to cell surface. NA Belongs to the ERF4 family. NA PE1 10 +NX_Q2TAY7 WD40 repeat-containing protein SMU1 513 57544 6.74 0 Cytoplasm;Nucleus speckle;Nucleus;Cytoplasmic vesicle NA (Microbial infection) Required, together with IK, for normal splicing of influenza A virus NS1 pre-mRNA, which is required for the production of the exportin NS2 and for the production of influenza A virus particles. Not required for the production of VSV virus particles.;Involved in pre-mRNA splicing as a component of the spliceosome (PubMed:28781166). Regulates alternative splicing of the HSPG2 pre-mRNA (By similarity). Required for normal accumulation of IK (PubMed:24945353). Required for normal mitotic spindle assembly and normal progress through mitosis (By similarity). NA Belongs to the WD repeat SMU1 family. NA PE1 9 +NX_Q2TAZ0 Autophagy-related protein 2 homolog A 1938 212860 5.57 0 Lipid droplet;Preautophagosomal structure membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA Involved in autophagosome assembly, regulating the size of nascent autophagosomes (PubMed:28561066). Also regulates lipid droplets morphology and distribution within the cell (PubMed:22219374, PubMed:28561066). NA Belongs to the ATG2 family. NA PE1 11 +NX_Q2TB10 Zinc finger protein 800 664 75236 9.54 0 Nucleolus;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 7 +NX_Q2TB18 Protein asteroid homolog 1 679 77093 8.39 0 Endoplasmic reticulum NA Possible role in EGF receptor signaling. NA Belongs to the asteroid family. NA PE1 3 +NX_Q2TB90 Hexokinase HKDC1 917 102545 6.77 0 Mitochondrion membrane;Mitochondrion NA Catalyzes the phosphorylation of hexose to hexose 6-phosphate, although at very low level compared to other hexokinases (PubMed:30517626). Has low glucose phosphorylating activity compared to other hexokinases (PubMed:30517626). Involved in glucose homeostasis and hepatic lipid accumulation. Required to maintain whole-body glucose homeostasis during pregnancy; however additional evidences are required to confirm this role (By similarity). NA Belongs to the hexokinase family. Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 1/4.;Carbohydrate metabolism; hexose metabolism.;Glycolysis / Gluconeogenesis;Fructose and mannose metabolism;Galactose metabolism;Starch and sucrose metabolism;Amino sugar and nucleotide sugar metabolism;Butirosin and neomycin biosynthesis;Metabolic pathways;Insulin signaling pathway;Type II diabetes mellitus;Carbohydrate digestion and absorption PE1 10 +NX_Q2TBA0 Kelch-like protein 40 621 69257 5.15 0 Cytoplasm;A band;I band Nemaline myopathy 8 Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development (PubMed:23746549). The BCR(KLHL40) complex acts by mediating ubiquitination and degradation of TFDP1, thereby regulating the activity of the E2F:DP transcription factor complex (By similarity). Promotes stabilization of LMOD3 by acting as a negative regulator of LMOD3 ubiquitination; the molecular process by which it negatively regulates ubiquitination of LMOD3 is however unclear (By similarity). NA Belongs to the KLHL40 family. NA PE1 3 +NX_Q2TBC4 Prickle-like protein 4 344 37551 5.47 0 Spindle;Centriolar satellite NA NA NA Belongs to the prickle / espinas / testin family. NA PE2 6 +NX_Q2TBE0 CWF19-like protein 2 894 103787 8.78 0 Cytosol;Nucleus speckle NA NA NA Belongs to the CWF19 family. NA PE1 11 +NX_Q2TBF2 WSC domain-containing protein 2 565 63817 8.99 1 Membrane;Nucleoplasm NA NA NA Belongs to the WSCD family. NA PE1 12 +NX_Q2TV78 Putative macrophage stimulating 1-like protein 715 79694 8.16 0 Secreted NA NA NA Belongs to the peptidase S1 family. Plasminogen subfamily. NA PE1 1 +NX_Q2UY09 Collagen alpha-1(XXVIII) chain 1125 116657 6.1 0 Nucleoplasm;Basement membrane;Cytosol NA May act as a cell-binding protein. NA Belongs to the VWA-containing collagen family. Collagen biosynthesis and modifying enzymes;Collagen chain trimerization PE1 7 +NX_Q2V2M9 FH1/FH2 domain-containing protein 3 1422 158613 5.7 0 Z line;Cytoskeleton NA May play a role in actin filament polymerization in cardiomyocytes.;Actin-organizing protein that may cause stress fiber formation together with cell elongation (By similarity). Phosphorylated on Thr-1474 and Thr-1476 by CK2. Belongs to the formin homology family. NA PE1 18 +NX_Q2VIQ3 Chromosome-associated kinesin KIF4B 1234 140035 5.88 0 Nucleus matrix;Cytoskeleton NA Motor protein that translocates PRC1 to the plus ends of interdigitating spindle microtubules during the metaphase to anaphase transition, an essential step for the formation of an organized central spindle midzone and midbody and for successful cytokinesis. May play a role in mitotic chromosomal positioning and bipolar spindle stabilization (By similarity). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Chromokinesin subfamily. MHC class II antigen presentation;Kinesins;Recycling pathway of L1;COPI-dependent Golgi-to-ER retrograde traffic PE1 5 +NX_Q2VIR3 Eukaryotic translation initiation factor 2 subunit 3B 472 51229 8.67 0 NA NA As a subunit of eukaryotic initiation factor 2 (eIF2), involved in the early steps of protein synthesis. In the presence of GTP, eIF2 forms a ternary complex with initiator tRNA Met-tRNAi and then recruits the 40S ribosomal complex, a step that determines the rate of protein translation. This step is followed by mRNA binding to form the 43S pre-initiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF2 and release of an eIF2-GDP binary complex. In order for eIF2 to recycle and catalyze another round of initiation, the GDP bound to eIF2 must exchange with GTP by way of a reaction catalyzed by eIF2B (By similarity). Along with its paralog on chromosome Y, may contribute to spermatogenesis up to the round spermatid stage (By similarity). NA Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EIF2G subfamily. NA PE1 12 +NX_Q2VPA4 Complement component receptor 1-like protein 569 62714 6.95 0 Membrane;Cytoplasm;Secreted NA NA NA Belongs to the receptors of complement activation (RCA) family. NA PE1 1 +NX_Q2VPB7 AP-5 complex subunit beta-1 878 93949 5.61 0 Golgi apparatus;Nucleoplasm;Cytoplasmic vesicle NA As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. NA NA NA PE1 11 +NX_Q2VPJ9 Leucine-rich repeat-containing protein 75B 315 34740 9.42 0 Nucleoplasm;Cytosol NA NA NA Belongs to the LRRC75 family. NA PE2 22 +NX_Q2VPK5 Cytoplasmic tRNA 2-thiolation protein 2 515 56107 5.94 0 Cytoplasm Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with CTU1/ATPBD3 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position. NA Belongs to the CTU2/NCS2 family. tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis.;Sulfur relay system;tRNA modification in the nucleus and cytosol PE1 16 +NX_Q2VWA4 SKI family transcriptional corepressor 2 1001 104235 6.02 0 Cytoplasm;Nucleus NA Exhibits transcriptional repressor activity (By similarity). Acts as a TGF-beta antagonist in the nervous system. NA Belongs to the SKI family. NA PE1 18 +NX_Q2VWP7 Protogenin 1150 127076 7.37 1 Membrane;Cytoplasmic vesicle;Cytosol;Cell membrane NA May play a role in anteroposterior axis elongation. NA Belongs to the immunoglobulin superfamily. DCC family. NA PE1 15 +NX_Q2VY69 Zinc finger protein 284 593 69019 8.77 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q2VYF4 LETM1 domain-containing protein LETM2, mitochondrial 491 55921 9.31 1 Nucleoplasm;Cytosol;Mitochondrion inner membrane;Nucleus NA NA NA NA NA PE1 8 +NX_Q2WEN9 Carcinoembryonic antigen-related cell adhesion molecule 16 425 45873 5.94 0 Secreted Deafness, autosomal dominant, 4B;Deafness, autosomal recessive, 113 Required for proper hearing, plays a role in maintaining the integrity of the tectorial membrane. NA Belongs to the immunoglobulin superfamily. CEA family. NA PE1 19 +NX_Q2WGJ6 Kelch-like protein 38 581 65541 8.19 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 8 +NX_Q2WGJ8 Transmembrane protein 249 235 27046 9.88 2 Membrane NA NA NA NA NA PE1 8 +NX_Q2WGJ9 Fer-1-like protein 6 1857 209308 5.98 1 Membrane NA NA NA Belongs to the ferlin family. NA PE1 8 +NX_Q2WGN9 GRB2-associated-binding protein 4 574 62367 7.35 0 NA NA NA NA Belongs to the GAB family. NA PE2 22 +NX_Q2Y0W8 Electroneutral sodium bicarbonate exchanger 1 1093 122938 6.22 11 Membrane;Cell membrane NA Mediates electroneutral sodium- and carbonate-dependent chloride-HCO3(-) exchange with a Na(+):HCO3(-) stoichiometry of 2:1. Plays a major role in pH regulation in neurons. May be involved in cell pH regulation by transporting HCO3(-) from blood to cell. Enhanced expression in severe acid stress could be important for cell survival by mediating the influx of HCO3(-) into the cells. Also mediates lithium-dependent HCO3(-) cotransport. May be regulated by osmolarity. NA Belongs to the anion exchanger (TC 2.A.31) family. Bicarbonate transporters PE1 12 +NX_Q2YD98 UV-stimulated scaffold protein A 709 80591 5.93 0 Nucleoplasm;Chromosome UV-sensitive syndrome 3 Factor involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage. TC-NER allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Acts by promoting stabilization of ERCC6 by recruiting deubiquitinating enzyme USP7 to TC-NER complexes, preventing UV-induced degradation of ERCC6 by the proteasome. Interacts with the elongating form of RNA polymerase II (RNA pol IIo) and facilitates its ubiquitination at UV damage sites, leading to promote RNA pol IIo backtracking to allow access to the nucleotide excision repair machinery. Not involved in processing oxidative damage. Monoubiquitinated: ubiquitination does not increase in response to UV. Belongs to the UVSSA family. Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER PE1 4 +NX_Q30134 HLA class II histocompatibility antigen, DRB1-8 beta chain 266 30004 6.66 1 Endoplasmic reticulum membrane;Endosome membrane;Cell membrane;trans-Golgi network membrane;Lysosome membrane;Late endosome membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route; where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and efficient peptide loading. Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II. Belongs to the MHC class II family. MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_Q30154 HLA class II histocompatibility antigen, DR beta 5 chain 266 30056 6.45 1 Endoplasmic reticulum membrane;Cell membrane;Endosome membrane;Lysosome membrane;trans-Golgi network membrane;Late endosome membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to down-regulation of MHC class II. Belongs to the MHC class II family. Phagosome;Cell adhesion molecules (CAMs);Antigen processing and presentation;Hematopoietic cell lineage;Intestinal immune network for IgA production;Type I diabetes mellitus;Leishmaniasis;Toxoplasmosis;Staphylococcus aureus infection;Tuberculosis;Influenza A;HTLV-I infection;Herpes simplex infection;Asthma;Autoimmune thyroid disease;Systemic lupus erythematosus;Rheumatoid arthritis;Allograft rejection;Graft-versus-host disease;Viral myocarditis;MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_Q30167 HLA class II histocompatibility antigen, DRB1-10 beta chain 266 30002 7.66 1 Endoplasmic reticulum membrane;Cell membrane;Endosome membrane;trans-Golgi network membrane;Lysosome membrane;Late endosome membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route; where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and efficient peptide loading. Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II. Belongs to the MHC class II family. MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_Q30201 Hereditary hemochromatosis protein 348 40108 6.12 1 Nucleoplasm;Cell membrane Microvascular complications of diabetes 7;Variegate porphyria;Hemochromatosis 1 Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin. NA Belongs to the MHC class I family. Transferrin endocytosis and recycling PE1 6 +NX_Q309B1 Tripartite motif-containing protein 16-like protein 348 40306 5.86 0 Cytoplasm NA NA NA Belongs to the TRIM/RBCC family. NA PE1 17 +NX_Q30KP8 Beta-defensin 136 78 8755 9.18 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE2 8 +NX_Q30KP9 Beta-defensin 135 77 8754 9.54 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE2 8 +NX_Q30KQ1 Beta-defensin 133 61 7213 9.06 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE2 6 +NX_Q30KQ4 Beta-defensin 116 102 11544 8.71 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE2 20 +NX_Q30KQ5 Beta-defensin 115 88 10071 8.77 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE2 20 +NX_Q30KQ6 Beta-defensin 114 69 8318 7.5 0 Secreted NA Has a salt-sensitive antimicrobial activity against Gram-negative bacteria, including E.coli, Gram-positive, including S.aureus, and fungi, including C.albicans. Binds to and neutralizes bacterial lipopolysaccharides (LPS), abolishing TNF production by macrophages challenged with LPS. Rescues the LPS-induced reduction of sperm motility in vitro and may protect from LPS-induced lethality. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE1 6 +NX_Q30KQ7 Beta-defensin 113 82 9640 9.1 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE2 6 +NX_Q30KQ8 Beta-defensin 112 113 12991 8.82 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE1 6 +NX_Q30KQ9 Beta-defensin 110 67 8001 9.06 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE2 6 +NX_Q30KR1 Putative beta-defensin 109B 87 9886 8.91 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins PE5 8 +NX_Q32M45 Anoctamin-4 955 111462 8.45 8 Cell membrane NA Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (By similarity). NA Belongs to the anoctamin family. Stimuli-sensing channels PE1 12 +NX_Q32M78 Zinc finger protein 699 642 73956 8.6 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q32M84 BTB/POZ domain-containing protein 16 506 58481 9.29 0 Cytosol;Nucleolus NA NA NA NA NA PE1 10 +NX_Q32M88 Protein-glucosylgalactosylhydroxylysine glucosidase 737 80655 5.11 0 Cytosol NA Catalyzes the hydrolysis of glucose from the disaccharide unit linked to hydroxylysine residues of collagen and collagen-like proteins. NA Belongs to the glycosyl hydrolase 65 family. NA PE1 11 +NX_Q32M92 Uncharacterized protein C15orf32 178 20262 9.34 0 NA NA NA NA NA NA PE2 15 +NX_Q32MH5 Protein FAM214A 1076 121670 8.12 0 Nucleoplasm NA NA NA Belongs to the FAM214 family. NA PE1 15 +NX_Q32MK0 Myosin light chain kinase 3 819 88393 5.76 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle NA Kinase that phosphorylates MYL2 in vitro. Promotes sarcomere formation in cardiomyocytes and increases cardiomyocyte contractility (By similarity). Phosphorylated on serine residues. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Calcium signaling pathway;Vascular smooth muscle contraction;Focal adhesion;Regulation of actin cytoskeleton;Gastric acid secretion PE1 16 +NX_Q32MQ0 Zinc finger protein 750 723 77361 8.45 0 Nucleus Seborrhea-like dermatitis with psoriasiform elements Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4 and promotes its expression. NA NA Generic Transcription Pathway PE1 17 +NX_Q32MZ4 Leucine-rich repeat flightless-interacting protein 1 808 89253 4.59 0 Cytoplasm;Cytosol;Nucleus NA Transcriptional repressor which preferentially binds to the GC-rich consensus sequence (5'-AGCCCCCGGCG-3') and may regulate expression of TNF, EGFR and PDGFA. May control smooth muscle cells proliferation following artery injury through PDGFA repression. May also bind double-stranded RNA. Positively regulates Toll-like receptor (TLR) signaling in response to agonist probably by competing with the negative FLII regulator for MYD88-binding. NA Belongs to the LRRFIP family. Signaling by FGFR1 in disease;Signaling by cytosolic FGFR1 fusion mutants;LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production PE1 2 +NX_Q32NB8 CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial 556 62730 9.08 0 Cytoplasmic vesicle;Cell junction;Mitochondrion;Cytoskeleton NA Functions in the biosynthesis of the anionic phospholipids phosphatidylglycerol and cardiolipin. NA Belongs to the CDP-alcohol phosphatidyltransferase class-II family. Phospholipid metabolism; phosphatidylglycerol biosynthesis; phosphatidylglycerol from CDP-diacylglycerol: step 1/2.;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PG PE1 17 +NX_Q32NC0 UPF0711 protein C18orf21 220 24827 10.27 0 Nucleolus;Cell membrane NA NA NA Belongs to the UPF0711 family. NA PE1 18 +NX_Q32P28 Prolyl 3-hydroxylase 1 736 83394 5.05 0 Endoplasmic reticulum;Cytoplasmic vesicle;Extracellular matrix;Nucleolus Osteogenesis imperfecta 8 Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts. O-glycosylated; chondroitin sulfate. Belongs to the leprecan family. Collagen biosynthesis and modifying enzymes PE1 1 +NX_Q32P41 tRNA (guanine(37)-N1)-methyltransferase 509 58246 8.78 0 Cytoplasm;Mitochondrion matrix;Nucleolus;Nucleoplasm;Nucleus Combined oxidative phosphorylation deficiency 26 Involved in mitochondrial tRNA methylation (PubMed:26189817). Specifically methylates the N1 position of guanosine-37 in various tRNAs. Methylation is not dependent on the nature of the nucleoside 5' of the target nucleoside. This is the first step in the biosynthesis of wybutosine (yW), a modified base adjacent to the anticodon of tRNAs and required for accurate decoding. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. TRM5/TYW2 family. Synthesis of wybutosine at G37 of tRNA(Phe) PE1 14 +NX_Q32P44 Echinoderm microtubule-associated protein-like 3 896 95197 6.69 0 Cytoskeleton NA May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic. NA Belongs to the WD repeat EMAP family. NA PE1 11 +NX_Q32P51 Heterogeneous nuclear ribonucleoprotein A1-like 2 320 34225 9.08 0 Cytoplasm;Nucleus NA Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and may modulate splice site selection. NA NA Spliceosome PE1 13 +NX_Q32Q52 Uncharacterized protein C12orf74 190 21196 8.68 0 NA NA NA NA NA NA PE2 12 +NX_Q32ZL2 Phospholipid phosphatase-related protein type 5 321 35427 6.58 6 Cytosol;Cell membrane NA Induces filopodia formation and promotes neurite growth in a CDC42-independent manner; impedes neurite growth inhibitory-mediated axonal retraction. NA Belongs to the PA-phosphatase related phosphoesterase family. Lysosphingolipid and LPA receptors PE2 1 +NX_Q330K2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 333 38176 9.44 0 Cytoplasm;Mitochondrion inner membrane;Nucleus Mitochondrial complex I deficiency, nuclear type 17 Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1. NA Belongs to the NDUFAF6 family. Complex I biogenesis PE1 8 +NX_Q33E94 Transcription factor RFX4 735 83368 6.38 0 Nucleoplasm;Nucleus NA Transcription factor that plays a role in early brain development. May activate transcription by interacting directly with the X-box. May activate transcription from CX3CL1 promoter through the X-box during brain development. NA Belongs to the RFX family. NA PE1 12 +NX_Q38SD2 Leucine-rich repeat serine/threonine-protein kinase 1 2015 225393 6.25 0 Cytoplasm;Cytosol;Mitochondrion NA NA Autophosphorylated Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. ROCO subfamily. NA PE1 15 +NX_Q3B726 DNA-directed RNA polymerase I subunit RPA43 338 37432 6.53 0 Nucleoplasm;Nucleolus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Through its association with RRN3/TIF-IA may be involved in recruitment of Pol I to rDNA promoters. NA Belongs to the eukaryotic RPA43 RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;B-WICH complex positively regulates rRNA expression PE1 7 +NX_Q3B7I2 Protein canopy homolog 1 92 10960 4.92 0 NA NA NA NA Belongs to the canopy family. NA PE2 7 +NX_Q3B7J2 Glucose-fructose oxidoreductase domain-containing protein 2 385 42255 6.02 0 Nucleoplasm;Cytosol;Extracellular matrix NA Promotes matrix assembly. NA Belongs to the Gfo/Idh/MocA family. NA PE1 16 +NX_Q3B7S5 Small integral membrane protein 21 101 11722 10.62 1 Membrane NA NA NA NA NA PE2 18 +NX_Q3B7T1 Erythroid differentiation-related factor 1 1238 138528 5.93 0 Nucleoplasm;Cytosol;Centrosome;Nucleus NA Transcription factor involved in erythroid differentiation. Involved in transcriptional activation of the globin gene. NA NA NA PE1 10 +NX_Q3B7T3 Protein BEAN1 259 28626 7.8 1 Membrane;Nucleoplasm;Centrosome Spinocerebellar ataxia 31 NA NA NA NA PE1 16 +NX_Q3B820 Protein FAM161A 660 76752 8.21 0 Cilium;Cilium basal body Retinitis pigmentosa 28 Involved in ciliogenesis. NA Belongs to the FAM161 family. NA PE1 2 +NX_Q3B8N2 Galectin-9B 356 39660 9.6 0 NA NA Binds galactosides. NA NA NA PE1 17 +NX_Q3B8N5 Prospero homeobox protein 2 592 65586 9.28 0 Nucleus NA Transcription regulator. Does not seem to be essential for embryonic development and postnatal survival (By similarity). NA Belongs to the Prospero homeodomain family. NA PE2 14 +NX_Q3BBV0 Neuroblastoma breakpoint family member 1 1214 139258 4.74 0 Cytoplasm NA NA NA Belongs to the NBPF family. NA PE1 1 +NX_Q3BBV2 Putative neuroblastoma breakpoint family member 8 869 99215 4.6 0 Cytoplasm NA NA NA Belongs to the NBPF family. NA PE5 1 +NX_Q3C1V0 Membrane-spanning 4-domains subfamily A member 18 400 42176 8.14 4 Membrane NA NA NA Belongs to the MS4A family. NA PE2 11 +NX_Q3C1V1 Uncharacterized protein C11orf91 193 20547 9.42 0 Cytoplasmic vesicle NA NA NA NA NA PE1 11 +NX_Q3C1V8 Brain-specific homeobox protein homolog 233 25933 6.96 0 Nucleus NA DNA binding protein that function as transcriptional activator. Is essential for normal postnatal growth and nursing. Is an essential factor for neuronal neuropeptide Y and agouti-related peptide function and locomotory behavior in the control of energy balance (By similarity). NA Belongs to the distal-less homeobox family. NA PE2 11 +NX_Q3C1V9 Putative uncharacterized protein ENSP00000334305 767 84939 7.76 0 NA NA NA NA NA NA PE5 11 +NX_Q3I5F7 Putative acyl-coenzyme A thioesterase 6 207 22991 8.81 0 Cytoplasm NA Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH (PubMed:16940157). It is unclear if human acyl-coenzyme A thioesterase 6/ACOT6 has an acyl-CoA thioesterase (Probable). NA Belongs to the C/M/P thioester hydrolase family. Beta-oxidation of very long chain fatty acids PE2 14 +NX_Q3KNS1 Patched domain-containing protein 3 767 86872 5.84 8 Membrane NA May play a role in sperm development or sperm function. NA Belongs to the patched family. NA PE1 10 +NX_Q3KNS6 Zinc finger protein 829 432 50142 8.21 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q3KNT7 Putative NOL1/NOP2/Sun domain family member 5B 163 17679 5.47 0 NA NA NA NA Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. NA PE5 7 +NX_Q3KNT9 Transmembrane protein 95 176 19597 8.98 1 Membrane NA NA NA NA NA PE2 17 +NX_Q3KNV8 Polycomb group RING finger protein 3 242 28115 8.54 0 Nucleoplasm;Nucleus NA Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332). Plays a redundant role with PCGF5 as part of a PRC1-like complex that mediates monoubiquitination of histone H2A 'Lys-119' on the X chromosome and is required for normal silencing of one copy of the X chromosome in XX females (By similarity). NA NA NA PE1 4 +NX_Q3KNW1 Zinc finger protein SNAI3 292 32474 9.45 0 Nucleoplasm;Nucleus NA Seems to inhibit myoblast differentiation. Transcriptional repressor of E-box-dependent transactivation of downstream myogenic bHLHs genes. Binds preferentially to the canonical E-box sequences 5'-CAGGTG-3' and 5'-CACCTG-3' (By similarity). NA Belongs to the snail C2H2-type zinc-finger protein family. NA PE2 16 +NX_Q3KNW5 Solute carrier family 10 member 6 377 41259 8.15 9 Membrane NA Transports sulfoconjugated steroid hormones, as well as taurolithocholic acid-3-sulfate and sulfoconjugated pyrenes in a sodium-dependent manner. Glycosylated. Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. Transport of bile salts and organic acids, metal ions and amine compounds PE1 4 +NX_Q3KP22 Membrane-anchored junction protein 176 20078 10.11 1 Nucleus inner membrane;Telomere NA Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the complex, MAJIN acts as the anchoring subunit to the nucleus inner membrane. MAJIN shows DNA-binding activity, possibly for the stabilization of telomere attachment on the nucleus inner membrane. NA Belongs to the MAJIN family. NA PE1 11 +NX_Q3KP31 Zinc finger protein 791 576 66872 9.39 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q3KP44 Ankyrin repeat domain-containing protein 55 614 68414 6.72 0 Nucleoplasm;Cytosol;Nucleus speckle NA NA NA NA NA PE1 5 +NX_Q3KP66 Innate immunity activator protein 663 72914 9.42 0 Cytoplasm;Nucleus Inflammatory bowel disease 29 Expressed in peripheral macrophages and intestinal myeloid-derived cells, is required for optimal PRR (pattern recognition receptor)-induced signaling, cytokine secretion, and bacterial clearance. Upon stimulation of a broad range of PRRs (pattern recognition receptor) such as NOD2 or TLR2, TLR3, TLR4, TLR5, TLR7 and TLR9, associates with YWHAQ/14-3-3T, which in turn leads to the recruitment and activation of MAP kinases and NF-kappa-B signaling complexes that amplifies PRR-induced downstream signals and cytokine secretion (PubMed:28436939). In the intestine, regulates adherens junction stability by regulating the degradation of CYTH1 and CYTH2, probably acting as substrate cofactor for SCF E3 ubiquitin-protein ligase complexes. Stabilizes adherens junctions by limiting CYTH1-dependent ARF6 activation (PubMed:29420262). NA NA NA PE1 1 +NX_Q3KPI0 Carcinoembryonic antigen-related cell adhesion molecule 21 293 32373 5.83 1 Membrane NA NA NA Belongs to the immunoglobulin superfamily. CEA family. NA PE1 19 +NX_Q3KQU3 MAP7 domain-containing protein 1 841 92820 10.12 0 Cytosol;Spindle;Cytoskeleton NA NA NA Belongs to the MAP7 family. NA PE1 1 +NX_Q3KQV3 Zinc finger protein 792 632 71577 8.36 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q3KQV9 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 507 57030 5.94 0 Cytosol;Cytoskeleton NA NA NA Belongs to the UDPGP type 1 family. Amino sugar and nucleotide sugar metabolism;Metabolic pathways PE1 9 +NX_Q3KQZ1 Solute carrier family 25 member 35 300 32438 9.21 6 Cytoplasmic vesicle;Mitochondrion inner membrane;Mitochondrion NA NA NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 17 +NX_Q3KR16 Pleckstrin homology domain-containing family G member 6 790 88960 6.63 0 Cleavage furrow;Cell junction;Spindle pole;Spindle;Centrosome;Microvillus NA Guanine nucleotide exchange factor activating the small GTPase RHOA, which, in turn, induces myosin filament formation. Also activates RHOG. Does not activate RAC1, or to a much lower extent than RHOA and RHOG. Part of a functional unit, involving PLEKHG6, MYH10 and RHOA, at the cleavage furrow to advance furrow ingression during cytokinesis. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with EZR, required for normal macropinocytosis. NA NA NA PE1 12 +NX_Q3KR37 Protein Aster-B 738 85400 5.84 1 Endoplasmic reticulum membrane;Cell membrane;Nucleolus;Nucleoplasm;Cytoskeleton NA Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis in the adrenal gland and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS) which is mediated by the GRAM domain (By similarity). At the EPCS, the sterol-binding VASt/ASTER domain binds to the cholesterol in the PM and facilitates its transfer from the PM to ER (By similarity). NA NA NA PE1 11 +NX_Q3KRA6 UPF0538 protein C2orf76 126 14609 6.42 0 Endoplasmic reticulum NA NA NA Belongs to the UPF0538 family. NA PE1 2 +NX_Q3KRA9 Alpha-ketoglutarate-dependent dioxygenase alkB homolog 6 238 26483 8.9 0 Cytoplasm;Nucleoplasm;Focal adhesion;Nucleus NA Probable dioxygenase that requires molecular oxygen, alpha-ketoglutarate and iron. NA Belongs to the alkB family. NA PE1 19 +NX_Q3KRB8 Rho GTPase-activating protein 11B 267 30251 9.27 0 Cytoplasmic vesicle NA Hominin-specific protein that promotes development and evolutionary expansion of the brain neocortex (PubMed:25721503). Able to promote amplification of basal progenitors in the subventricular zone, producing more neurons during fetal corticogenesis (PubMed:25721503). Does not possess GTPase activator activity (PubMed:25721503). NA NA Rho GTPase cycle PE2 15 +NX_Q3L8U1 Chromodomain-helicase-DNA-binding protein 9 2897 326022 6.56 0 Cytoplasm;Cytosol;Nucleus;Cell membrane NA Acts as a transcriptional coactivator for PPARA and possibly other nuclear receptors. Proposed to be a ATP-dependent chromatin remodeling protein. Has DNA-dependent ATPase activity and binds to A/T-rich DNA. Associates with A/T-rich regulatory regions in promoters of genes that participate in the differentiation of progenitors during osteogenesis (By similarity). Phosphorylated on serine and tyrosine residues. Belongs to the SNF2/RAD54 helicase family. PPARA activates gene expression;RORA activates gene expression;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;Activation of gene expression by SREBF (SREBP);Transcriptional regulation of white adipocyte differentiation;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) PE1 16 +NX_Q3LFD5 Putative ubiquitin carboxyl-terminal hydrolase 41 358 41394 8.36 0 NA NA May recognize and hydrolyze the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins (By similarity). NA Belongs to the peptidase C19 family. ISG15 antiviral mechanism PE1 22 +NX_Q3LHN0 Keratin-associated protein 25-1 102 11738 9.01 0 Cytosol;Nucleus membrane;Cell membrane NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity). NA Belongs to the PMG family. Keratinization PE3 21 +NX_Q3LHN1 Keratin-associated protein 21-3 58 6456 7.51 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA NA Keratinization PE3 21 +NX_Q3LHN2 Keratin-associated protein 19-2 52 5737 8.48 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 19 family. Keratinization PE3 21 +NX_Q3LI54 Keratin-associated protein 19-8 63 6918 8.91 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 19 family. Keratinization PE2 21 +NX_Q3LI58 Keratin-associated protein 21-1 79 7937 8.15 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA NA Keratinization PE2 21 +NX_Q3LI59 Keratin-associated protein 21-2 83 8564 8.4 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA NA Keratinization PE2 21 +NX_Q3LI60 Keratin-associated protein 20-3 44 4909 7.61 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 20 family. NA PE3 21 +NX_Q3LI61 Keratin-associated protein 20-2 65 6961 8.63 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 20 family. Keratinization PE1 21 +NX_Q3LI62 Putative keratin-associated protein 20-4 44 4623 9.06 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity). NA Belongs to the KRTAP type 20 family. NA PE2 21 +NX_Q3LI63 Keratin-associated protein 20-1 56 6202 8.24 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 20 family. Keratinization PE2 21 +NX_Q3LI64 Keratin-associated protein 6-1 71 7279 8.36 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 6 family. Keratinization PE1 21 +NX_Q3LI66 Keratin-associated protein 6-2 62 6654 6.65 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 6 family. Keratinization PE1 21 +NX_Q3LI67 Keratin-associated protein 6-3 103 10409 7.35 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 6 family. Keratinization PE3 21 +NX_Q3LI68 Keratin-associated protein 22-2 45 5218 8.39 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity). NA Belongs to the KRTAP type 20 family. NA PE2 21 +NX_Q3LI70 Keratin-associated protein 19-6 58 6267 8.97 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 19 family. Keratinization PE2 21 +NX_Q3LI72 Keratin-associated protein 19-5 72 7624 8.32 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 19 family. Keratinization PE1 21 +NX_Q3LI73 Keratin-associated protein 19-4 84 9106 8.93 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 19 family. Keratinization PE2 21 +NX_Q3LI76 Keratin-associated protein 15-1 137 14979 8.15 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the PMG family. Keratinization PE1 21 +NX_Q3LI77 Keratin-associated protein 13-4 160 17755 9.08 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the PMG family. Keratinization PE1 21 +NX_Q3LI81 Keratin-associated protein 27-1 207 22345 5.45 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the PMG family. Keratinization PE2 21 +NX_Q3LI83 Keratin-associated protein 24-1 254 27719 8.71 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the PMG family. Keratinization PE1 21 +NX_Q3LIE5 Manganese-dependent ADP-ribose/CDP-alcohol diphosphatase 342 39529 5.31 0 NA NA Hydrolyzes ADP-ribose, IDP-ribose, CDP-glycerol, CDP-choline and CDP-ethanolamine, but not other non-reducing ADP-sugars or CDP-glucose. May be involved in immune cell signaling as suggested by the second-messenger role of ADP-ribose, which activates TRPM2 as a mediator of oxidative/nitrosative stress (By similarity). NA Belongs to the ADPRibase-Mn family. Purine metabolism;Glycerophospholipid metabolism;Phosphate bond hydrolysis by NUDT proteins PE1 17 +NX_Q3LXA3 Triokinase/FMN cyclase 575 58947 7.12 0 Nucleoplasm;Cytosol NA Catalyzes both the phosphorylation of dihydroxyacetone and of glyceraldehyde, and the splitting of ribonucleoside diphosphate-X compounds among which FAD is the best substrate. Represses IFIH1-mediated cellular antiviral response (PubMed:17600090). NA Belongs to the dihydroxyacetone kinase (DAK) family. Glycerolipid metabolism;Metabolic pathways;RIG-I-like receptor signaling pathway;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Fructose catabolism PE1 11 +NX_Q3MHD2 Protein LSM12 homolog 195 21701 7.62 0 Cytoplasm;Cytosol NA NA NA Belongs to the LSM12 family. NA PE1 17 +NX_Q3MII6 TBC1 domain family member 25 688 76327 5.75 0 Cytoplasm;Autophagosome NA Acts as a GTPase-activating protein specific for RAB33B. Involved in the regulation of autophagosome maturation, the process in which autophagosomes fuse with endosomes and lysosomes. NA NA TBC/RABGAPs PE1 X +NX_Q3MIN7 Ral guanine nucleotide dissociation stimulator-like 3 710 78079 7.6 0 Nucleoplasm;Cytosol NA Guanine nucleotide exchange factor (GEF) for Ral-A. Potential effector of GTPase HRas and Ras-related protein M-Ras. Negatively regulates Elk-1-dependent gene induction downstream of HRas and MEKK1 (By similarity). NA NA NA PE1 19 +NX_Q3MIP1 Inositol 1,4,5-trisphosphate receptor-interacting protein-like 2 535 58446 9.58 1 Membrane;Centrosome NA NA NA Belongs to the ITPRIP family. NA PE1 16 +NX_Q3MIR4 Cell cycle control protein 50B 351 38941 8.06 2 Cell membrane NA Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate (Probable). Can mediate the export of alpha subunits ATP8A1, ATP8B1, ATP8B2 and ATP8B4 from the ER to the plasma membrane. NA Belongs to the CDC50/LEM3 family. NA PE1 14 +NX_Q3MIS6 Zinc finger protein 528 628 72138 9.37 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q3MIT2 Putative tRNA pseudouridine synthase Pus10 529 60244 6.1 0 Nucleoplasm;Mitochondrion;Nucleus NA Pseudouridylate synthases catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. PUS10 catalyzes the formation of the universal psi55 in the GC loop of transfer RNAs (Probable). Modulator of TRAIL-induced cell death via activation of procaspase 8 and BID cleavage. Required for the progression of the apoptotic signal through intrinsic mitochondrial cell death. Proteolytically cleaved during TRAIL-induced cell death. Cleaved, in vitro, either by caspase-3 or caspase-8. Belongs to the pseudouridine synthase Pus10 family. NA PE1 2 +NX_Q3MIV0 Keratin-associated protein 22-1 48 5275 6.48 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA NA Keratinization PE2 21 +NX_Q3MIW9 Mucin-like protein 3 517 56347 9.01 1 Cytoplasm;Cell membrane NA May modulate NF-kappaB signaling and play a role in cell growth. NA NA NA PE1 6 +NX_Q3MIX3 Uncharacterized aarF domain-containing protein kinase 5 580 65828 9.05 1 Membrane;Cytosol;Cell membrane NA The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr). NA Belongs to the protein kinase superfamily. ADCK protein kinase family. NA PE1 8 +NX_Q3MJ13 WD repeat-containing protein 72 1102 123425 6.22 0 Cytoplasmic vesicle Amelogenesis imperfecta, hypomaturation type, 2A3 Plays a major role in formation of tooth enamel (PubMed:19853237, PubMed:25008349). Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane. NA NA NA PE1 15 +NX_Q3MJ16 Cytosolic phospholipase A2 epsilon 868 99190 5.46 0 Cytosol;Lysosome membrane NA Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position. NA NA Glycerophospholipid metabolism;Ether lipid metabolism;Arachidonic acid metabolism;Linoleic acid metabolism;alpha-Linolenic acid metabolism;Metabolic pathways;MAPK signaling pathway;Vascular smooth muscle contraction;VEGF signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Glutamatergic synapse;Long-term depression;GnRH signaling pathway;Pancreatic secretion;Fat digestion and absorption;Toxoplasmosis;Acyl chain remodelling of PC;Acyl chain remodelling of PS;Acyl chain remodelling of PE;Acyl chain remodelling of PI;Hydrolysis of LPC PE1 15 +NX_Q3MJ40 Coiled-coil domain-containing protein 144B 725 82951 4.93 0 NA NA NA NA Belongs to the CCDC144 family. NA PE2 17 +NX_Q3MJ62 Zinc finger and SCAN domain-containing protein 23 389 44955 5.91 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 6 +NX_Q3MUY2 Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y 71 8058 6.69 2 Endoplasmic reticulum membrane Hyperphosphatasia with mental retardation syndrome 6 Component of the GPI-GlcNAc transferase (GPI-GnT) complex in the endoplasmic reticulum, a complex that catalyzes transfer of GlcNAc from UDP-GlcNAc to an acceptor phosphatidylinositol, the first step in the production of GPI-anchors for cell surface proteins. May act by regulating the catalytic subunit PIGA. NA NA Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Synthesis of glycosylphosphatidylinositol (GPI) PE1 4 +NX_Q3SX64 Outer dense fiber protein 3-like protein 2 289 30781 10 0 NA NA NA NA Belongs to the ODF3 family. NA PE1 19 +NX_Q3SXM0 DDB1- and CUL4-associated factor 4-like protein 1 396 44264 8.65 0 NA NA NA NA NA NA PE1 4 +NX_Q3SXM5 Inactive hydroxysteroid dehydrogenase-like protein 1 330 37002 8.93 0 Cytoplasmic vesicle;Mitochondrion;Cytoskeleton NA NA NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily. NA PE1 16 +NX_Q3SXP7 Protein shisa-like-1 199 22573 8.95 1 Membrane;Cytoplasmic vesicle;Cytosol NA NA NA Belongs to the shisa family. NA PE2 22 +NX_Q3SXR2 Uncharacterized protein C3orf36 165 16908 8.66 0 Nucleoplasm;Cytosol;Nucleolus NA NA NA NA NA PE2 3 +NX_Q3SXY7 Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 679 74754 5.46 1 Endoplasmic reticulum membrane;Mitochondrion;Perikaryon;Nucleoplasm;Cytosol;Dendrite Night blindness, congenital stationary, 1F Plays a role in the synapse formation and synaptic transmission between cone photoreceptor cells and retinal bipolar cells (By similarity). Required for normal transmission of a light-evoked stimulus from the cone photoreceptor cells to the ON-bipolar cells and ON-ganglion cells in the inner retina (PubMed:28334377). Required in retinal ON-bipolar cells for normal localization of the cation channel TRPM1 at dendrite tips (By similarity). Seems to play a specific role in synaptic contacts made by ON-bipolar cells with cone photoreceptor pedicles (By similarity). May also have a role in cone synapse formation (By similarity). Might facilitate FGFR1 exit from the endoplasmic reticulum to the Golgi (PubMed:22673519). Could be a regulator of the FGFRs (PubMed:22673519). Glycosylated. NA NA PE1 4 +NX_Q3SXY8 ADP-ribosylation factor-like protein 13B 428 48643 6.2 0 Cilium membrane;Cytosol;Cilium;Cytoskeleton Joubert syndrome 8 Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze it; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interneurons in the developing cerebral cortex. May regulate endocytic recycling traffic; however, additional evidence is required to confirm these data. Sumoylation is required for PKD2 entry into cilium. Belongs to the small GTPase superfamily. Arf family. ARL13B-mediated ciliary trafficking of INPP5E PE1 3 +NX_Q3SXZ3 Zinc finger protein 718 478 55359 9.53 0 Nucleus NA May be involved in transcriptional regulation. NA NA Generic Transcription Pathway PE1 4 +NX_Q3SXZ7 Probable tubulin polyglutamylase TTLL9 439 51472 8.96 0 Nucleoplasm;Cilium basal body;Cytoskeleton NA Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Acts when complexed with other proteins. By mediating tubulin polyglutamylation, plays a role in the establishment of microtubule heterogeneity in sperm flagella. NA Belongs to the tubulin--tyrosine ligase family. Carboxyterminal post-translational modifications of tubulin PE2 20 +NX_Q3SY00 Testis-specific protein 10-interacting protein 556 62381 10.08 0 NA NA NA NA NA NA PE1 11 +NX_Q3SY05 Putative uncharacterized protein encoded by LINC00303 128 14562 9.74 0 NA NA NA NA NA NA PE5 1 +NX_Q3SY17 Solute carrier family 25 member 52 297 33721 9.69 6 Mitochondrion inner membrane NA NA NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE2 18 +NX_Q3SY46 Keratin-associated protein 13-3 172 19236 8.78 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity). NA Belongs to the PMG family. Keratinization PE1 21 +NX_Q3SY52 Zinc finger protein interacting with ribonucleoprotein K 487 54786 9.1 0 Nucleus;Cytoskeleton NA May be a transcriptional repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q3SY56 Transcription factor Sp6 376 39840 6.81 0 Nucleoplasm;Spindle;Centrosome;Nucleus NA Promotes cell proliferation. NA Belongs to the Sp1 C2H2-type zinc-finger protein family. NA PE1 17 +NX_Q3SY69 Mitochondrial 10-formyltetrahydrofolate dehydrogenase 923 101746 6.13 0 Mitochondrion NA NA NA In the N-terminal section; belongs to the GART family.;In the C-terminal section; belongs to the aldehyde dehydrogenase family. ALDH1L subfamily. One carbon pool by folate;Metabolism of folate and pterines PE1 12 +NX_Q3SY77 UDP-glucuronosyltransferase 3A2 523 59547 8.51 1 Nucleoplasm;Golgi apparatus;Cytosol;Membrane NA UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity). NA Belongs to the UDP-glycosyltransferase family. Glucuronidation PE1 5 +NX_Q3SY84 Keratin, type II cytoskeletal 71 523 57292 6.27 0 Cytoskeleton Hypotrichosis 13 Plays a central role in hair formation. Essential component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle. NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_Q3SY89 Elongin-A3 member B 546 59760 9.83 0 Nucleus NA SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex). NA NA Formation of RNA Pol II elongation complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;TP53 Regulates Transcription of DNA Repair Genes PE2 18 +NX_Q3SYA9 Putative POM121-like protein 1 428 45448 9.17 0 NA NA NA NA Belongs to the POM121 family. NA PE5 22 +NX_Q3SYB3 Forkhead box protein D4-like 6 417 45787 9.76 0 Nucleus NA NA NA NA NA PE1 9 +NX_Q3SYC2 2-acylglycerol O-acyltransferase 2 334 38196 9.47 3 Endoplasmic reticulum membrane;Perinuclear region NA Catalyzes the formation of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. Has a preference toward monoacylglycerols containing unsaturated fatty acids in an order of C18:3 > C18:2 > C18:1 > C18:0. Plays a central role in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes. May play a role in diet-induced obesity. NA Belongs to the diacylglycerol acyltransferase family. Glycerolipid metabolism; triacylglycerol biosynthesis.;Fat digestion and absorption;Triglyceride biosynthesis PE1 11 +NX_Q3SYF9 Keratin-associated protein 19-7 63 6644 8.49 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 19 family. Keratinization PE1 21 +NX_Q3SYG4 Protein PTHB1 887 99280 5.35 0 Cilium membrane;Cytoplasm;Centrosome;Centriolar satellite Bardet-Biedl syndrome 9 The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for proper BBSome complex assembly and its ciliary localization. NA NA BBSome-mediated cargo-targeting to cilium PE1 7 +NX_Q3T8J9 GON-4-like protein 2241 248620 4.94 0 Nucleoplasm;Nucleus NA Has transcriptional repressor activity, probably as part of a complex with YY1, SIN3A AND HDAC1. Required for B cell lymphopoiesis. NA NA NA PE1 1 +NX_Q3T906 N-acetylglucosamine-1-phosphotransferase subunits alpha/beta 1256 143622 6.74 2 Golgi apparatus;Golgi apparatus membrane Mucolipidosis type II;Mucolipidosis type III complementation group A Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment. The alpha- and beta-subunits are generated by a proteolytic cleavage by MBTPS1 protease at the Lys-928-Asp-929 bond. Belongs to the stealth family. Lysosome PE1 12 +NX_Q3V5L5 Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B 792 89535 8.68 1 Golgi apparatus membrane;Nucleoplasm;Spindle;Cytoskeleton NA Glycosyltransferase that acts on alpha-linked mannose of N-glycans and O-mannosyl glycans. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to the beta 1-6 linkage of the mannose residue of GlcNAc-beta1,2-Man-alpha on both the alpha1,3- and alpha1,6-linked mannose arms in the core structure of N-glycan. Also acts on the GlcNAc-beta1,2-Man-alpha1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. Plays an active role in modulating integrin and laminin-dependent adhesion and migration of neuronal cells via its activity in the O-mannosyl glycan pathway. NA Belongs to the glycosyltransferase 18 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Other types of O-glycan biosynthesis;Metabolic pathways PE1 17 +NX_Q3V6T2 Girdin 1871 216042 5.9 0 Cell membrane;Centriole;Cilium basal body;Membrane;Lamellipodium;Cytoplasmic vesicle;Cytosol PEHO-like syndrome Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation (By similarity). Enhances phosphoinositide 3-kinase (PI3K)-dependent phosphorylation and kinase activity of AKT1/PKB, but does not possess kinase activity itself (By similarity). Phosphorylation of AKT1/PKB thereby induces the phosphorylation of downstream effectors GSK3 and FOXO1/FKHR, and regulates DNA replication and cell proliferation (By similarity). Essential for the integrity of the actin cytoskeleton and for cell migration (PubMed:16139227). Required for formation of actin stress fibers and lamellipodia (PubMed:15882442). May be involved in membrane sorting in the early endosome (PubMed:15882442). Plays a role in ciliogenesis and cilium morphology and positioning and this may partly be through regulation of the localization of scaffolding protein CROCC/Rootletin (PubMed:27623382). Phosphorylation is induced by epidermal growth factor (EGF) in a phosphoinositide 3-kinase (PI3K)-dependent manner. Phosphorylation by AKT1/PKB is necessary for the delocalization from the cell membrane and for cell migration. Belongs to the CCDC88 family. NA PE1 2 +NX_Q3Y452 Testis development-related protein 1 100 10472 6.81 0 Cytoplasm NA NA NA NA NA PE1 6 +NX_Q3YBM2 Transmembrane protein 176B 270 29056 8.81 4 Golgi apparatus;Nucleoplasm;Nucleus membrane;Cell membrane NA May play a role in the process of maturation of dendritic cells. Required for the development of cerebellar granule cells (By similarity). NA Belongs to the TMEM176 family. NA PE1 7 +NX_Q3YBR2 Transforming growth factor beta regulator 1 411 44946 8.73 0 Nucleoplasm;Nucleus NA Acts as a growth inhibitor. Can activate p53/TP53, causes G1 arrest and collaborates with CDKN2A to restrict proliferation, but does not require either protein to inhibit DNA synthesis. Redistributes CDKN2A into the nucleoplasm. Involved in maintaining chromosomal stability. Ubiquitinated; mediated by MDM2 and leading to its subsequent proteasomal degradation. Belongs to the TBRG1 family. NA PE1 11 +NX_Q3YEC7 Rab-like protein 6 729 79549 5.11 0 Cytoplasm;Cytosol;Centrosome;Nucleus NA May enhance cellular proliferation. May reduce growth inhibitory activity of CDKN2A. Is O-glycosylated, while other isoforms are not. Belongs to the small GTPase superfamily. Rab family. NA PE1 9 +NX_Q3ZAQ7 Vacuolar ATPase assembly integral membrane protein VMA21 101 11354 6.56 2 Endoplasmic reticulum-Golgi intermediate compartment membrane;COPII-coated vesicle membrane;Endoplasmic reticulum membrane Myopathy, X-linked, with excessive autophagy Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum. NA Belongs to the VMA21 family. NA PE1 X +NX_Q3ZCM7 Tubulin beta-8 chain 444 49776 4.79 0 Spindle;Cytoskeleton Oocyte maturation defect 2 Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). TUBB8 has a key role in meiotic spindle assembly and oocyte maturation (PubMed:26789871). Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.;Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).;Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866). Belongs to the tubulin family. Phagosome;Gap junction;Pathogenic Escherichia coli infection;Separation of Sister Chromatids;MHC class II antigen presentation;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 10 +NX_Q3ZCN5 Otogelin-like protein 2332 262091 5.01 0 Cytosol;Secreted Deafness, autosomal recessive, 84B NA NA Belongs to the otogelin family. NA PE1 12 +NX_Q3ZCQ2 Annexin-2 receptor 193 21682 4.88 0 Nucleoplasm;Cytosol NA May act as a receptor for annexin II on marrow stromal cells to induce osteoclast formation. NA NA NA PE1 5 +NX_Q3ZCQ3 Membrane protein FAM174B 159 16967 8.88 1 Membrane;Cytoskeleton NA NA NA Belongs to the FAM174 family. NA PE1 15 +NX_Q3ZCQ8 Mitochondrial import inner membrane translocase subunit TIM50 353 39646 8.55 1 Nucleoplasm;Mitochondrion inner membrane;Nucleus speckle;Mitochondrion 3-methylglutaconic aciduria 9 May participate in the release of snRNPs and SMN from the Cajal body.;Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Has some phosphatase activity in vitro; however such activity may not be relevant in vivo. NA Belongs to the TIM50 family. Mitochondrial protein import PE1 19 +NX_Q3ZCT1 Zinc finger protein 260 412 47222 9.28 0 Nucleoplasm;Cytosol;Nucleus NA Transcription factor that acts as a cardiac regulator and an effector of alpha1-adrenergic signaling. Binds to PE response elements (PERE) present in the promoter of genes such as ANF/NPPA and acts as a direct transcriptional activator of NPPA. Also acts as a cofactor with GATA4, a key cardiac regulator (By similarity). NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q3ZCT8 Kelch repeat and BTB domain-containing protein 12 623 71096 5.65 0 NA NA NA NA NA NA PE1 3 +NX_Q3ZCU0 Protein GVQW3 254 29382 9.76 0 Endoplasmic reticulum;Nucleoplasm;Centrosome NA NA NA NA NA PE2 11 +NX_Q3ZCV2 Lymphocyte expansion molecule 418 47583 9.85 0 NA NA NA NA NA NA PE1 1 +NX_Q3ZCW2 Galectin-related protein 172 18986 5.12 0 Cytoplasm;Nucleoplasm;Nucleus NA Does not bind lactose, and may not bind carbohydrates. NA NA NA PE1 2 +NX_Q3ZCX4 Zinc finger protein 568 644 74369 8.58 0 Nucleoplasm;Nucleus NA Has transcriptional repression activity, partially through the recruitment of the corepressor TRIM28 but has also repression activity independently of this interaction. Essential during embryonic development, where it acts as direct repressor of a placental-specific transcript of IGF2 in early development and regulates convergent extension movements required for axis elongation and tissue morphogenesis in all germ layers. Also important for normal morphogenesis of extraembryonic tissues including the yolk sac, extraembryonic mesoderm and placenta. May enhance proliferation or maintenance of neural stem cells. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q3ZLR7 Transcription factor SPT20 homolog-like 1 823 89431 9 0 NA NA NA NA Belongs to the SPT20 family. NA PE2 X +NX_Q3ZM63 Embryonic testis differentiation protein homolog A 59 6991 10.43 0 NA NA NA NA NA NA PE1 X +NX_Q400G9 Archaemetzincin-1 498 54924 5.64 0 NA NA Zinc metalloprotease. Exhibits aminopeptidase activity against neurogranin in vitro. Does not hydrolyze angiotensin-2. NA Belongs to the peptidase M54 family. NA PE1 7 +NX_Q401N2 Zinc-activated ligand-gated ion channel 412 45816 8.45 4 Cell membrane NA Zinc-activated ligand-gated ion channel. Glycosylated. Belongs to the ligand-gated ion channel (TC 1.A.9) family. NA PE1 17 +NX_Q460N3 Protein mono-ADP-ribosyltransferase PARP15 678 74576 9.02 0 Mitochondrion;Nucleus NA Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins (PubMed:16061477, PubMed:25043379, PubMed:25635049). Acts as a negative regulator of transcription (PubMed:16061477). NA NA NA PE1 3 +NX_Q460N5 Protein mono-ADP-ribosyltransferase PARP14 1801 202800 6.81 0 Cytoplasm;Cytosol;Nucleus NA ADP-ribosyltransferase that mediates mono-ADP-ribosylation of glutamate residues on target proteins (PubMed:16061477, PubMed:27796300, PubMed:18851833, PubMed:25043379). In contrast to PARP1 and PARP2, it is not able to mediate poly-ADP-ribosylation (PubMed:25043379). Has been shown to catalyze the mono-ADP-ribosylation of STAT1 at 'Glu-657' and 'Glu-705', thus decreasing STAT1 phosphorylation which negatively regulates pro-inflammatory cytokine production in macrophages in response to IFNG stimulation (PubMed:27796300). However, the role of ADP-ribosylation in the prevention of STAT1 phosphorylation has been called into question and it has been suggested that the inhibition of phosphorylation may be the result of sumoylation of STAT1 'Lys-703' (PubMed:29858569). Mono-ADP-ribosylates STAT6; enhancing STAT6-dependent transcription (PubMed:27796300). In macrophages, positively regulates MRC1 expression in response to IL4 stimulation by promoting STAT6 phosphorylation (PubMed:27796300). Mono-ADP-ribosylates PARP9 (PubMed:27796300). Auto-ADP-ribosylated. NA Nicotinamide salvaging PE1 3 +NX_Q494R0 Putative uncharacterized protein FBXL19-AS1 122 13218 9.41 0 NA NA NA NA NA NA PE5 16 +NX_Q494R4 Coiled-coil domain-containing protein 153 210 23858 9.34 0 Cytosol NA NA NA Belongs to the UPF0610 family. NA PE1 11 +NX_Q494U1 Pleckstrin homology domain-containing family N member 1 611 66409 9.06 0 Nucleus speckle;Mitochondrion;Cell membrane;Mitochondrion membrane;Cytoskeleton NA Controls the stability of the leptin mRNA harboring an AU-rich element (ARE) in its 3' UTR, in cooperation with the RNA stabilizer ELAVL1 (PubMed:29180010). Decreases the stability of the leptin mRNA by antagonizing the function of ELAVL1 by inducing its atypical recruitment from the nucleus to the cytosol (By similarity). Binds to cardiolipin (CL), phosphatidic acid (PA), phosphatidylinositol 4-phosphate (PtdIns(4)P) and phosphatidylserine (PS) (PubMed:18191643). Promotes apoptosis by enhancing BAX-BAK hetero-oligomerization via interaction with BID in colon cancer cells (PubMed:29531808) (By similarity). Phosphorylation is essential for its mitochondrial localization and regulates its interaction with C1QBP. NA NA PE1 1 +NX_Q494V2 Cilia- and flagella-associated protein 100 611 71117 6.65 0 Cilium axoneme NA May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm. NA Belongs to the CFAP100 family. NA PE1 3 +NX_Q494W8 CHRNA7-FAM7A fusion protein 412 46218 6.11 5 Membrane NA NA NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. NA PE1 15 +NX_Q494X3 Zinc finger protein 404 552 65425 9.32 0 Nucleus;Nucleolus;Cytoskeleton NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q495A1 T-cell immunoreceptor with Ig and ITIM domains 244 26319 5.5 1 Cell membrane NA Binds with high affinity to the poliovirus receptor (PVR) which causes increased secretion of IL10 and decreased secretion of IL12B and suppresses T-cell activation by promoting the generation of mature immunoregulatory dendritic cells. NA NA NA PE1 3 +NX_Q495B1 Ankyrin repeat and death domain-containing protein 1A 522 57550 6.22 0 Nucleoplasm NA NA NA NA NA PE1 15 +NX_Q495C1 Probable E3 SUMO-protein ligase RNF212 297 33365 9.04 0 Nucleus;Chromosome NA SUMO E3 ligase that acts as a regulator of crossing-over during meiosis: required to couple chromosome synapsis to the formation of crossover-specific recombination complexes. Localizes to recombination sites and stabilizes meiosis-specific recombination factors, such as MutS-gamma complex proteins (MSH4 and MSH5) and TEX11. May mediate sumoylation of target proteins MSH4 and/or MSH5, leading to enhance their binding to recombination sites. Acts as a limiting factor for crossover designation and/or reinforcement and plays an antagonist role with CCNB1IP1/HEI10 in the regulation of meiotic recombination (By similarity). NA NA Protein modification; protein sumoylation. PE1 4 +NX_Q495D7 Putative uncharacterized protein encoded by LINC01559 138 15996 9.11 0 NA NA NA NA NA NA PE2 12 +NX_Q495M3 Proton-coupled amino acid transporter 2 483 53216 8.4 11 Cytoplasm;Cell membrane Iminoglycinuria;Hyperglycinuria Involved in a pH-dependent electrogenic neuronal transport and sequestration of small amino acids. Transports glycine and proline. Inhibited by sarcosine (By similarity). NA Belongs to the amino acid/polyamine transporter 2 family. Amino acid transport across the plasma membrane;Proton-coupled neutral amino acid transporters;Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) PE1 5 +NX_Q495M9 Usher syndrome type-1G protein 461 51489 6.48 0 Cytosol;Cell membrane;Cytoskeleton Usher syndrome 1G Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. NA NA NA PE1 17 +NX_Q495N2 Proton-coupled amino acid transporter 3 470 51735 5.91 11 Membrane NA NA NA Belongs to the amino acid/polyamine transporter 2 family. NA PE2 5 +NX_Q495T6 Membrane metallo-endopeptidase-like 1 779 89367 5.64 1 Membrane;Secreted NA Metalloprotease involved in sperm function, possibly by modulating the processes of fertilization and early embryonic development. Degrades a broad variety of small peptides with a preference for peptides shorter than 3 kDa containing neutral bulky aliphatic or aromatic amino acid residues. Shares the same substrate specificity with MME and cleaves peptides at the same amide bond (By similarity). N-glycosylated. Belongs to the peptidase M13 family. NA PE1 1 +NX_Q495W5 Alpha-(1,3)-fucosyltransferase 11 492 55816 5.59 1 Golgi stack membrane;Golgi apparatus;Nucleus membrane NA Probable fucosyltransferase. NA Belongs to the glycosyltransferase 10 family. Protein modification; protein glycosylation.;Lewis blood group biosynthesis PE1 10 +NX_Q495X7 Tripartite motif-containing protein 60 471 55114 8.68 0 NA NA NA NA Belongs to the TRIM/RBCC family. NA PE2 4 +NX_Q495Y7 Putative speedy protein E7 208 25253 8.71 0 NA NA NA NA Belongs to the Speedy/Ringo family. NA PE5 7 +NX_Q495Y8 Speedy protein E2 402 48300 9.78 0 NA NA NA NA Belongs to the Speedy/Ringo family. NA PE1 7 +NX_Q495Z4 Putative uncharacterized protein ASB16-AS1 193 20099 11.93 0 NA NA NA NA NA NA PE5 17 +NX_Q496A3 Spermatogenesis-associated serine-rich protein 1 300 33705 7.08 0 Nucleoplasm NA NA NA NA NA PE1 6 +NX_Q496F6 CMRF35-like molecule 2 205 22918 8.22 1 Cell membrane NA Probably acts as an activating receptor. N-glycosylated. Belongs to the CD300 family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;DAP12 interactions PE1 17 +NX_Q496H8 Neuritin-like protein 165 17786 8.35 0 Cell membrane NA NA NA Belongs to the neuritin family. Post-translational modification: synthesis of GPI-anchored proteins PE1 16 +NX_Q496J9 Synaptic vesicle glycoprotein 2C 727 82342 4.92 12 Nucleoplasm;Synaptic vesicle membrane;Cytoplasmic vesicle NA (Microbial infection) Receptor for C.botulinum neurotoxin type A (BoNT/A, botA); the toxin probably binds via extracellular loop 4 (PubMed:27313224). Recognition by BoNT/A relies on both protein-protein and protein-N-glycosylation; glycosylation of Asn-559 increases its affinity for BoNT/A (PubMed:27313224). Also serves as a receptor for the closely related C.botulinum neurotoxin type A2; glycosylation is not essential but enhances the interaction (PubMed:29649119).;(Microbial infection) Possible receptor for C.botulinum neurotoxin type D (BoNT/D, botD); note that type D does not usually infect humans.;Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles. N-glycosylated. Upon expression in a kidney cell line the most abundant glycan on Asn-534 is GlcNAc(3)Hex(5), while on Asn-559 and Asn-565 the most abundant glycan is GlcNAc2Fuc1Man3GlcNAc3Gal3. Both Asn-559 and Asn-565 have a high degree of glycan heterogeneity (PubMed:27313224). Belongs to the major facilitator superfamily. ECM-receptor interaction;Toxicity of botulinum toxin type D (BoNT/D);Toxicity of botulinum toxin type F (BoNT/F);Toxicity of botulinum toxin type A (BoNT/A) PE1 5 +NX_Q496M5 Inactive serine/threonine-protein kinase PLK5 336 36329 5.99 0 Cytoplasm;Nucleolus NA Inactive serine/threonine-protein kinase that plays a role in cell cycle progression and neuronal differentiation. NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CDC5/Polo subfamily. NA PE1 19 +NX_Q496Y0 LON peptidase N-terminal domain and RING finger protein 3 759 84490 7 0 Nucleoplasm;Cell membrane NA NA NA NA NA PE1 X +NX_Q499Y3 Putative uncharacterized protein C10orf88-like 187 20452 7.62 0 NA NA NA NA NA NA PE1 10 +NX_Q499Z3 Schlafen-like protein 1 407 45603 5.61 0 Cytosol NA NA NA Belongs to the Schlafen family. Subgroup I subfamily. NA PE1 1 +NX_Q499Z4 Zinc finger protein 672 452 50224 10.01 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 1 +NX_Q49A17 Polypeptide N-acetylgalactosaminyltransferase-like 6 601 69788 7.11 1 Golgi apparatus membrane NA Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE2 4 +NX_Q49A26 Putative oxidoreductase GLYR1 553 60547 9.26 0 Nucleoplasm;Cytosol;Nucleus;Chromosome NA Nucleosome-destabilizing factor that is recruited to genes during transcriptional activation (PubMed:29759984). Facilitates Pol II transcription through nucleosomes (PubMed:29759984). Binds DNA (in vitro) (PubMed:29759984). Recognizes and binds trimethylated 'Lys-36' of histone H3 (H3K36me3) (PubMed:20850016). Promotes KDM1B demethylase activity (PubMed:23260659). Stimulates the acetylation of 'Lys-56' of nucleosomal histone H3 (H3K56ac) by EP300 (PubMed:29759984). Regulates p38 MAP kinase activity by mediating stress activation of p38alpha/MAPK14 and specifically regulating MAPK14 signaling (PubMed:16352664). Indirectly promotes phosphorylation of MAPK14 and activation of ATF2 (PubMed:16352664). The phosphorylation of MAPK14 requires upstream activity of MAP2K4 and MAP2K6 (PubMed:16352664). Putative oxidoreductase (PubMed:23260659). NA Belongs to the HIBADH-related family. NP60 subfamily. NA PE1 16 +NX_Q49A33 Putative zinc finger protein 876 203 23384 9.13 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE5 4 +NX_Q49A88 Coiled-coil domain-containing protein 14 953 106302 8.65 0 Centriolar satellite;Centrosome NA Negatively regulates centriole duplication. Negatively regulates CEP63 and CDK2 centrosomal localization. NA NA NA PE1 3 +NX_Q49A92 Uncharacterized protein C8orf34 538 59434 5.76 0 Golgi apparatus;Nucleoplasm;Nucleolus NA NA NA NA NA PE1 8 +NX_Q49AA0 Zinc finger protein 69 homolog 526 61181 8.78 0 Nucleoplasm;Nucleus NA Putative transcription factor that appears to regulate lipid metabolism. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 1 +NX_Q49AG3 Zinc finger BED domain-containing protein 5 693 78911 8.57 0 Golgi apparatus;Nucleoplasm;Nucleolus NA NA NA NA NA PE1 11 +NX_Q49AH0 Cerebral dopamine neurotrophic factor 187 20964 7.5 0 Secreted NA Trophic factor for dopamine neurons. Prevents the 6-hydroxydopamine (6-OHDA)-induced degeneration of dopaminergic neurons. When administered after 6-OHDA-lesioning, restores the dopaminergic function and prevents the degeneration of dopaminergic neurons in substantia nigra (By similarity). NA Belongs to the ARMET family. NA PE1 10 +NX_Q49AJ0 Protein FAM135B 1406 155770 5.53 0 Nucleoplasm;Nucleus membrane NA NA NA Belongs to the FAM135 family. NA PE1 8 +NX_Q49AM1 Transcription termination factor 2, mitochondrial 385 44414 9.15 0 Mitochondrion;Mitochondrion nucleoid NA Binds mitochondrial DNA and plays a role in the regulation of transcription of mitochondrial mRNA and rRNA species. NA Belongs to the mTERF family. NA PE1 12 +NX_Q49AM3 Tetratricopeptide repeat protein 31 519 57105 8.52 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 2 +NX_Q49AN0 Cryptochrome-2 593 66947 8.66 0 Cytoplasm;Cytosol;Nucleus speckle;Nucleus NA Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. CRY1 and CRY2 have redundant functions but also differential and selective contributions at least in defining the pace of the SCN circadian clock and its circadian transcriptional outputs. Less potent transcriptional repressor in cerebellum and liver than CRY1, though less effective in lengthening the period of the SCN oscillator. Seems to play a critical role in tuning SCN circadian period by opposing the action of CRY1. With CRY1, dispensable for circadian rhythm generation but necessary for the development of intercellular networks for rhythm synchrony. May mediate circadian regulation of cAMP signaling and gluconeogenesis by blocking glucagon-mediated increases in intracellular cAMP concentrations and in CREB1 phosphorylation. Besides its role in the maintenance of the circadian clock, is also involved in the regulation of other processes. Plays a key role in glucose and lipid metabolism modulation, in part, through the transcriptional regulation of genes involved in these pathways, such as LEP or ACSL4. Represses glucocorticoid receptor NR3C1/GR-induced transcriptional activity by binding to glucocorticoid response elements (GREs). Represses the CLOCK-ARNTL/BMAL1 induced transcription of BHLHE40/DEC1. Represses the CLOCK-ARNTL/BMAL1 induced transcription of NAMPT (By similarity). Represses PPARD and its target genes in the skeletal muscle and limits exercise capacity (By similarity). Represses the transcriptional activity of NR1I2 (By similarity). Phosphorylation on Ser-266 by MAPK is important for the inhibition of CLOCK-ARNTL-mediated transcriptional activity. Phosphorylation by CSKNE requires interaction with PER1 or PER2. Phosphorylated in a circadian manner at Ser-554 and Ser-558 in the suprachiasmatic nucleus (SCN) and liver. Phosphorylation at Ser-558 by DYRK1A promotes subsequent phosphorylation at Ser-554 by GSK3-beta: the two-step phosphorylation at the neighboring Ser residues leads to its proteasomal degradation.;Ubiquitinated by the SCF(FBXL3) and SCF(FBXL21) complexes, regulating the balance between degradation and stabilization. The SCF(FBXL3) complex is mainly nuclear and mediates ubiquitination and subsequent degradation of CRY2. In contrast, cytoplasmic SCF(FBXL21) complex-mediated ubiquitination leads to stabilize CRY2 and counteract the activity of the SCF(FBXL3) complex. The SCF(FBXL3) and SCF(FBXL21) complexes probably mediate ubiquitination at different Lys residues. The SCF(FBXL3) complex recognizes and binds CRY2 phosphorylated at Ser-554 and Ser-558. Ubiquitination may be inhibited by PER2. Deubiquitinated by USP7 (By similarity). Belongs to the DNA photolyase class-1 family. Circadian rhythm - mammal;Circadian Clock PE1 11 +NX_Q49AR2 UPF0489 protein C5orf22 442 49967 4.65 0 Nucleus membrane NA NA NA Belongs to the UPF0489 family. NA PE1 5 +NX_Q49AS3 Putative protein LRRC37A5P 106 12596 10.02 0 NA NA NA NA NA NA PE5 9 +NX_Q49B96 Cytochrome c oxidase assembly protein COX19 90 10394 8.95 0 Cytosol;Mitochondrion intermembrane space;Mitochondrion NA Required for the transduction of an SCO1-dependent redox signal from the mitochondrion to ATP7A to regulate cellular copper homeostasis (PubMed:23345593). May be required for the assembly of mitochondrial cytochrome c oxidase (By similarity). NA Belongs to the COX19 family. Mitochondrial protein import PE1 7 +NX_Q49MG5 Microtubule-associated protein 9 647 74234 7.59 0 Cytoplasm;Spindle;Cytoskeleton NA Involved in organization of the bipolar mitotic spindle. Required for bipolar spindle assembly, mitosis progression and cytokinesis. May act by stabilizing interphase microtubules. NA NA NA PE1 4 +NX_Q49MI3 Ceramide kinase-like protein 558 62622 8.57 0 trans-Golgi network;Cytoplasm;Nucleolus;Endoplasmic reticulum;Nucleoplasm;Cytosol Retinitis pigmentosa 26 Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions. Phosphorylated on serine residues. NA NA PE1 2 +NX_Q49SQ1 Probable G-protein coupled receptor 33 333 38232 9.57 7 Cell membrane NA Orphan receptor; could be a chemoattractant receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 14 +NX_Q4AC94 C2 domain-containing protein 3 2353 260389 6.7 0 Nucleoplasm;Centriolar satellite;Cilium basal body;Centriole Orofaciodigital syndrome 14 Component of the centrioles that acts as a positive regulator of centriole elongation (PubMed:24997988). Promotes assembly of centriolar distal appendage, a structure at the distal end of the mother centriole that acts as an anchor of the cilium, and is required for recruitment of centriolar distal appendages proteins CEP83, SCLT1, CEP89, FBF1 and CEP164. Not required for centriolar satellite integrity or RAB8 activation. Required for primary cilium formation (PubMed:23769972). Required for sonic hedgehog/SHH signaling and for proteolytic processing of GLI3. NA NA Anchoring of the basal body to the plasma membrane PE1 11 +NX_Q4AC99 Probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2 568 65249 6.05 0 NA NA NA NA Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. NA PE1 11 +NX_Q4ADV7 RAB6A-GEF complex partner protein 1 1423 159301 5.95 1 Membrane;Cytosol NA The RIC1-RGP1 complex acts as a guanine nucleotide exchange factor (GEF), which activates RAB6A by exchanging bound GDP for free GTP and may thereby required for efficient fusion of endosome-derived vesicles with the Golgi compartment. The RIC1-RGP1 complex participates in the recycling of mannose-6-phosphate receptors. Required for phosphorylation and localization of GJA1. NA Belongs to the RIC1 family. Intra-Golgi traffic;Retrograde transport at the Trans-Golgi-Network;RAB GEFs exchange GTP for GDP on RABs PE1 9 +NX_Q4AE62 Glycosyltransferase-like domain-containing protein 1 458 52597 6.83 0 Cytosol NA NA NA Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily. NA PE1 2 +NX_Q4FZB7 Histone-lysine N-methyltransferase KMT5B 885 99188 8.98 0 Nucleoplasm;Nucleus;Chromosome Mental retardation, autosomal dominant 51 Histone methyltransferase that specifically trimethylates 'Lys-20' of histone H4. H4 'Lys-20' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. KMT5B is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). Plays a role in myogenesis by regulating the expression of target genes, such as EID3. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar4-20 subfamily. Lysine degradation;PKMTs methylate histone lysines PE1 11 +NX_Q4G0A6 Probable ubiquitin carboxyl-terminal hydrolase MINDY-4 757 84372 6.47 0 Cytoplasmic vesicle;Cytosol NA Probable hydrolase that can remove 'Lys-48'-linked conjugated ubiquitin from proteins. NA Belongs to the MINDY deubiquitinase family. FAM188 subfamily. NA PE1 7 +NX_Q4G0F5 Vacuolar protein sorting-associated protein 26B 336 39155 6.85 0 Membrane;Cytoplasm;Early endosome;Late endosome NA Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins. The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5. May be involved in retrograde transport of SORT1 but not of IGF2R. Acts redundantly with VSP26A in SNX-27 mediated endocytic recycling of SLC2A1/GLUT1 (By similarity). NA Belongs to the VPS26 family. NA PE1 11 +NX_Q4G0G2 Putative uncharacterized protein H1FX-AS1 97 11005 6.8 0 NA NA NA NA NA NA PE5 3 +NX_Q4G0G5 Secretoglobin family 2B member 2 96 10563 4.57 0 Secreted NA NA NA Belongs to the secretoglobin family. NA PE2 19 +NX_Q4G0I0 Protein CCSMST1 132 15004 6.51 1 Membrane NA NA NA Belongs to the CCSMST1 family. NA PE1 16 +NX_Q4G0J3 La-related protein 7 582 66899 9.57 0 Nucleoplasm;Cytosol Alazami syndrome Negative transcriptional regulator of polymerase II genes, acting by means of the 7SK RNP system. Within the 7SK RNP complex, the positive transcription elongation factor b (P-TEFb) is sequestered in an inactive form, preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation. NA NA NA PE1 4 +NX_Q4G0M1 Erythroferrone 354 37279 9.88 0 Secreted NA Iron-regulatory hormone that acts as an erythroid regulator after hemorrhage: produced by erythroblasts following blood loss and mediates suppression of hepcidin (HAMP) expression in the liver, thereby promoting increased iron absorption and mobilization from stores. Promotes lipid uptake into adipocytes and hepatocytes via transcriptional up-regulation of genes involved in fatty acid uptake. N-glycosylated. Belongs to the adipolin/erythroferrone family. NA PE1 2 +NX_Q4G0N0 Inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase 100 11568 5.61 1 Golgi stack membrane NA NA NA Belongs to the glycosyltransferase 6 family. NA PE1 9 +NX_Q4G0N4 NAD kinase 2, mitochondrial 442 49433 8.46 0 Mitochondrion 2,4-dienoyl-CoA reductase deficiency Mitochondrial NAD(+) kinase that phosphorylates NAD(+) to yield NADP(+). Can use both ATP or inorganic polyphosphate as the phosphoryl donor. Also has weak NADH kinase activity in vitro; however NADH kinase activity is much weaker than the NAD(+) kinase activity and may not be relevant in vivo. NA Belongs to the NAD kinase family. Nicotinate metabolism PE1 5 +NX_Q4G0N7 Protein FAM229B 80 8717 9.02 0 Golgi apparatus;Nucleoplasm;Nucleolus NA NA NA Belongs to the FAM229 family. NA PE1 6 +NX_Q4G0N8 Sodium/hydrogen exchanger 10 1177 135206 6.72 16 Flagellum membrane NA Sperm-specific sodium/hydrogen exchanger involved in intracellular pH regulation of spermatozoa. Required for sperm motility and fertility. Involved in sperm cell hyperactivation, a step needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for the expression and bicarbonate regulation of the soluble adenylyl cyclase (sAC) (By similarity). NA Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. Stimuli-sensing channels PE1 3 +NX_Q4G0P3 Hydrocephalus-inducing protein homolog 5121 575892 5.73 0 Cytosol;Cilium;Cell membrane Ciliary dyskinesia, primary, 5 Required for ciliary motility. NA NA NA PE1 16 +NX_Q4G0S4 Cytochrome P450 27C1 372 42632 9.31 0 Membrane;Cytoplasmic vesicle NA Catalyzes the conversion of all-trans retinol (also called vitamin A1, the precursor of 11-cis retinal) to 3,4-didehydroretinol (also called vitamin A2, the precursor of 11-cis 3,4-didehydroretinal). Also acts on all-trans retinal and all-trans retinoic acid. NA Belongs to the cytochrome P450 family. NA PE1 2 +NX_Q4G0S7 Coiled-coil domain-containing protein 152 254 29979 9.11 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 5 +NX_Q4G0T1 Scavenger receptor cysteine-rich domain-containing protein SCART1 1027 108611 5.76 1 Membrane NA May play a role in the immune system, perhaps as a co-receptor on alphabeta and gammadelta T-cells. NA NA NA PE1 10 +NX_Q4G0U5 Cilia- and flagella-associated protein 221 840 96891 8.79 0 Cytoplasm;Cilium axoneme NA May play a role in cilium morphogenesis. NA Belongs to the PCDP1 family. NA PE1 2 +NX_Q4G0W2 Dual specificity phosphatase 28 176 18324 8.61 0 Cytosol;Nucleus speckle NA Has phosphatase activity with the synthetic substrate 6,8-difluoro-4-methylumbelliferyl phosphate (in vitro) (PubMed:24531476, PubMed:29121083). Has almost no detectable activity with phosphotyrosine, even less activity with phosphothreonine and displays complete lack of activity with phosphoserine (PubMed:29121083). The poor activity with phosphotyrosine may be due to steric hindrance by bulky amino acid sidechains that obstruct access to the active site (PubMed:29121083). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. NA PE1 2 +NX_Q4G0X4 BTB/POZ domain-containing protein KCTD21 260 29643 6.09 0 Cytosol NA Probable substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex mediating the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes the ubiquitination of HDAC1. Can function as antagonist of the Hedgehog pathway by affecting the nuclear transfer of transcription factor GLI1; the function probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. Inhibits cell growth and tumorigenicity of medulloblastoma (MDB) (PubMed:21472142). NA NA Protein modification; protein ubiquitination. PE1 11 +NX_Q4G0X9 Coiled-coil domain-containing protein 40 1142 130113 5.21 0 Cytoplasm;Cilium;Cytoskeleton Ciliary dyskinesia, primary, 15 Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131974). Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39 (PubMed:21131974). NA Belongs to the CCDC40 family. NA PE1 17 +NX_Q4G0Z9 Minichromosome maintenance domain-containing protein 2 681 76219 6.79 0 Cytoskeleton NA Plays an important role in meiotic recombination and associated DNA double-strand break repair. NA NA NA PE1 8 +NX_Q4G112 Heat shock factor protein 5 596 65278 6.78 0 Nucleus NA May act as a transcriptional factor. NA Belongs to the HSF family. NA PE1 17 +NX_Q4G148 Glucoside xylosyltransferase 1 440 50567 8.92 1 Membrane NA Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose. NA Belongs to the glycosyltransferase 8 family. Other types of O-glycan biosynthesis PE1 12 +NX_Q4G163 F-box only protein 43 708 78402 8.4 0 NA NA Required to establish and maintain the arrest of oocytes at the second meiotic metaphase until fertilization. Probably acts by inhibiting the anaphase-promoting complex/cyclosome (APC/C) ubiquitin ligase. Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation (Probable). Phosphorylated on Ser-76, Thr-234 and Ser-334 in response to calcium, which is a prerequisite for ubiquitination and proteasomal degradation.;Ubiquitinated in response to calcium, which promotes proteasomal degradation. NA Protein modification; protein ubiquitination.;Oocyte meiosis PE1 8 +NX_Q4G176 Malonate--CoA ligase ACSF3, mitochondrial 576 64130 8.64 0 Mitochondrion Combined malonic and methylmalonic aciduria Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester (PubMed:21846720, PubMed:21841779). May have some preference toward very-long-chain substrates (PubMed:17762044). NA Belongs to the ATP-dependent AMP-binding enzyme family. Synthesis of very long-chain fatty acyl-CoAs PE1 16 +NX_Q4G1C9 GLIPR1-like protein 2 344 40179 4.88 1 Membrane;Golgi apparatus;Cytosol;Cytoplasmic vesicle NA NA NA Belongs to the CRISP family. NA PE1 12 +NX_Q4J6C6 Prolyl endopeptidase-like 727 83927 5.96 0 trans-Golgi network;Cytoplasm;Golgi apparatus;Cytosol;Nucleus;Cytoskeleton Myasthenic syndrome, congenital, 22;Hypotonia-cystinuria syndrome Serine peptidase whose precise substrate specificity remains unclear (PubMed:16143824, PubMed:16385448, PubMed:28726805). Does not cleave peptides after a arginine or lysine residue (PubMed:16143824). Regulates trans-Golgi network morphology and sorting by regulating the membrane binding of the AP-1 complex (PubMed:23321636). May play a role in the regulation of synaptic vesicle exocytosis (PubMed:24610330). NA Belongs to the peptidase S9A family. NA PE1 2 +NX_Q4JDL3 Tyrosine-protein phosphatase non-receptor type 20 420 48423 5.54 0 Cytoplasm;Centriolar satellite;Centrosome;Nucleus NA Tyrosine-protein phosphatase targeted to sites of actin polymerization in response of varied extracellular stimuli. Has tyrosine phosphatase activity towards various tyrosyl phosphorylated substrates. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily. Interleukin-37 signaling PE1 10 +NX_Q4KMG0 Cell adhesion molecule-related/down-regulated by oncogenes 1287 139147 6.04 1 Cell membrane Holoprosencephaly 11 Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells (By similarity). N-glycosylated. NA Activation of SMO;Ligand-receptor interactions;Myogenesis PE1 11 +NX_Q4KMG9 Transmembrane protein 52B 183 20002 5.39 1 Membrane;Focal adhesion NA NA NA NA NA PE1 12 +NX_Q4KMP7 TBC1 domain family member 10B 808 87199 9.27 0 Cytoplasm NA Acts as GTPase-activating protein for RAB3A, RAB22A, RAB27A, AND RAB35. Does not act on RAB2A and RAB6A. NA NA TBC/RABGAPs PE1 16 +NX_Q4KMQ1 Taperin 711 75556 6.82 0 Stereocilium;Cell membrane Deafness, autosomal recessive, 79 NA NA Belongs to the taperin family. NA PE1 9 +NX_Q4KMQ2 Anoctamin-6 910 106165 7.92 10 Cytosol;Cell membrane Scott syndrome Small-conductance calcium-activated nonselective cation (SCAN) channel which acts as a regulator of phospholipid scrambling in platelets and osteoblasts. Phospholipid scrambling results in surface exposure of phosphatidylserine which in platelets is essential to trigger the clotting system whereas in osteoblasts is essential for the deposition of hydroxyapatite during bone mineralization. Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Can generate outwardly rectifying chloride channel currents in airway epithelial cells and Jurkat T lymphocytes. NA Belongs to the anoctamin family. Stimuli-sensing channels;Neutrophil degranulation PE1 12 +NX_Q4KMX7 Protein FAM106A 169 18795 5.78 0 NA NA NA NA Belongs to the FAM106 family. NA PE2 17 +NX_Q4KMZ1 IQ domain-containing protein C 466 53032 8.22 0 Cytoplasmic vesicle NA NA NA NA NA PE1 1 +NX_Q4KMZ8 Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1 207 23552 5.21 3 Cell membrane NA NA NA Belongs to the NKAIN family. NA PE2 1 +NX_Q4KWH8 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 1693 189223 7.87 0 Membrane;Cytoplasm;Cytoplasmic vesicle NA The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by calcium-activated phosphatidylinositol-specific phospholipase C enzymes. NA NA Synthesis of IP3 and IP4 in the cytosol PE1 3 +NX_Q4L180 Filamin A-interacting protein 1-like 1135 130382 6.17 0 Membrane;Cytoplasm;Nucleus;Cell membrane NA Acts as a regulator of the antiangiogenic activity on endothelial cells. When overexpressed in endothelial cells, leads to inhibition of cell proliferation and migration and an increase in apoptosis. Inhibits melanoma growth When expressed in tumor-associated vasculature. NA Belongs to the FILIP1 family. NA PE1 3 +NX_Q4L235 Beta-alanine-activating enzyme 1098 122597 6.9 0 NA NA Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post-translational protein modification or for post-transcriptional modification of an RNA. NA Belongs to the ATP-dependent AMP-binding enzyme family. NA PE1 4 +NX_Q4LDE5 Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 3571 390170 5.32 0 Membrane;Cytoplasm;Secreted NA May play a role in the cell attachment process. O-glycosylated with core 1 or possibly core 8 glycans. NA NA PE1 9 +NX_Q4LDG9 Dynein light chain 1, axonemal 190 21533 5.87 0 Nucleoplasm;Centriolar satellite;Cilium axoneme Ciliary dyskinesia, primary, 16 Part of the multisubunit axonemal ATPase complexes that generate the force for cilia motility and govern beat frequency (By similarity). Component of the outer arm dynein (ODA). May be involved in a mechanosensory feedback mechanism controlling ODA activity based on external conformational cues by tethering the outer arm dynein heavy chain (DNAH5) to the microtubule within the axoneme (By similarity). Important for ciliary function in the airways and for the function of the cilia that produce the nodal flow essential for the determination of the left-right asymmetry (PubMed:21496787). NA Belongs to the dynein light chain LC1-type family. Huntington's disease PE1 14 +NX_Q4LDR2 Cortexin-3 81 8933 4.56 1 Membrane NA NA NA Belongs to the cortexin family. NA PE2 5 +NX_Q4LE39 AT-rich interactive domain-containing protein 4B 1312 147809 5.04 0 Nucleoplasm;Cytoplasm;Nucleus;Cytoplasmic vesicle NA Acts as a transcriptional repressor (PubMed:12724404). May function in the assembly and/or enzymatic activity of the Sin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes (PubMed:12724404). Plays a role in the regulation of epigenetic modifications at the PWS/AS imprinting center near the SNRPN promoter, where it might function as part of a complex with RB1 and ARID4A. Involved in spermatogenesis, together with ARID4A, where it functions as a transcriptional coactivator for AR (androgen receptor) and enhances expression of genes required for sperm maturation. Regulates expression of the tight junction protein CLDN3 in the testis, which is important for integrity of the blood-testis barrier. Plays a role in myeloid homeostasis where it regulates the histone methylation state of bone marrow cells and expression of various genes involved in hematopoiesis. May function as a leukemia suppressor (By similarity). NA NA NoRC negatively regulates rRNA expression;HDACs deacetylate histones PE1 1 +NX_Q4LEZ3 Alanine and arginine-rich domain-containing protein 155 17575 5.81 0 Lipid droplet NA NA NA NA NA PE1 8 +NX_Q4QY38 Beta-defensin 134 66 7552 6.52 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE2 8 +NX_Q4U2R6 39S ribosomal protein L51, mitochondrial 128 15095 11.27 0 Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mL51 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 12 +NX_Q4U2R8 Solute carrier family 22 member 6 563 61816 9.05 12 Cell membrane NA Involved in the renal elimination of endogenous and exogenous organic anions. Functions as organic anion exchanger when the uptake of one molecule of organic anion is coupled with an efflux of one molecule of endogenous dicarboxylic acid (glutarate, ketoglutarate, etc). Mediates the sodium-independent uptake of 2,3-dimercapto-1-propanesulfonic acid (DMPS) (By similarity). Mediates the sodium-independent uptake of p-aminohippurate (PAH), ochratoxin (OTA), acyclovir (ACV), 3'-azido-3-'deoxythymidine (AZT), cimetidine (CMD), 2,4-dichloro-phenoxyacetate (2,4-D), hippurate (HA), indoleacetate (IA), indoxyl sulfate (IS) and 3-carboxy-4-methyl-5-propyl-2-furanpropionate (CMPF), cidofovir, adefovir, 9-(2-phosphonylmethoxyethyl) guanine (PMEG), 9-(2-phosphonylmethoxyethyl) diaminopurine (PMEDAP) and edaravone sulfate. PAH uptake is inhibited by p-chloromercuribenzenesulphonate (PCMBS), diethyl pyrocarbonate (DEPC), sulindac, diclofenac, carprofen, glutarate and okadaic acid (By similarity). PAH uptake is inhibited by benzothiazolylcysteine (BTC), S-chlorotrifluoroethylcysteine (CTFC), cysteine S-conjugates S-dichlorovinylcysteine (DCVC), furosemide, steviol, phorbol 12-myristate 13-acetate (PMA), calcium ionophore A23187, benzylpenicillin, furosemide, indomethacin, bumetamide, losartan, probenecid, phenol red, urate, and alpha-ketoglutarate. Glycosylated. Glycosylation at Asn-113 may occur at a secondary level. Glycosylation is necessary for proper targeting of the transporter to the plasma membrane. Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. Organic anion transport PE1 11 +NX_Q4UJ75 Ankyrin repeat domain-containing protein 20A4 823 94149 8.11 0 NA NA NA NA NA NA PE2 9 +NX_Q4V321 G antigen 13 117 12957 4.17 0 NA NA NA NA Belongs to the GAGE family. NA PE2 X +NX_Q4V326 G antigen 2E 110 12217 4.3 0 NA NA NA NA Belongs to the GAGE family. NA PE2 X +NX_Q4V328 GRIP1-associated protein 1 841 96006 5.08 0 Recycling endosome membrane;Synapse;Early endosome membrane;Cytoplasmic vesicle;Cytosol;Axon;Dendrite NA Regulates the endosomal recycling back to the neuronal plasma membrane, possibly by connecting early and late recycling endosomal domains and promoting segregation of recycling endosomes from early endosomal membranes. Involved in the localization of recycling endosomes to dendritic spines, thereby playing a role in the maintenance of dendritic spine morphology. Required for the activity-induced AMPA receptor recycling to dendrite membranes and for long-term potentiation and synaptic plasticity (By similarity).;GRASP-1 C-terminal chain: Functions as a scaffold protein to facilitate MAP3K1/MEKK1-mediated activation of the JNK1 kinase by phosphorylation, possibly by bringing MAP3K1/MEKK1 and JNK1 in close proximity. Proteolytically cleaved by caspase-3. A minor C-terminal proteolytic fragment of 30 kDa is produced. Proteolytic cleavage is required for JNK signaling activation. NA NA PE1 X +NX_Q4V339 COBW domain-containing protein 6 395 43964 4.76 0 NA NA NA NA Belongs to the SIMIBI class G3E GTPase family. CobW subfamily. NA PE2 9 +NX_Q4V348 Zinc finger protein 658B 819 94331 8.9 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 9 +NX_Q4V9L6 Transmembrane protein 119 283 29203 4.5 1 Cytoplasm;Endoplasmic reticulum membrane;Cell membrane NA Plays an important role in bone formation and normal bone mineralization. Promotes the differentiation of myoblasts into osteoblasts (PubMed:20025746). May induce the commitment and differentiation of myoblasts into osteoblasts through an enhancement of BMP2 production and interaction with the BMP-RUNX2 pathway. Upregulates the expression of ATF4, a transcription factor which plays a central role in osteoblast differentiation. Essential for normal spermatogenesis and late testicular differentiation (By similarity). NA NA NA PE1 12 +NX_Q4VC05 B-cell CLL/lymphoma 7 protein family member A 210 22810 5.01 0 Nucleoplasm;Cytoplasmic vesicle NA NA NA Belongs to the BCL7 family. NA PE1 12 +NX_Q4VC12 Putative protein MSS51 homolog, mitochondrial 460 51289 6.49 0 Cytoplasmic vesicle;Cytosol NA NA NA NA NA PE1 10 +NX_Q4VC31 Coiled-coil domain-containing protein 58 144 16620 7.67 0 Mitochondrion;Nucleolus;Cytoskeleton NA NA NA Belongs to the CCDC58 family. NA PE1 3 +NX_Q4VC39 Putative HIG1 domain family member 2B 106 11405 8.55 2 Membrane NA NA NA NA NA PE5 15 +NX_Q4VC44 FLYWCH-type zinc finger-containing protein 1 716 80108 8.68 0 Nucleoplasm;Cytosol;Nucleus NA NA NA NA NA PE1 16 +NX_Q4VCS5 Angiomotin 1084 118085 7.27 0 Nucleoplasm;Tight junction;Cell junction NA Plays a central role in tight junction maintenance via the complex formed with ARHGAP17, which acts by regulating the uptake of polarity proteins at tight junctions. Appears to regulate endothelial cell migration and tube formation. May also play a role in the assembly of endothelial cell-cell junctions. Polyubiquitinated by NEDD4, NEDD4L and ITCH, leading to proteasomal degradation. Belongs to the angiomotin family. Signaling by Hippo PE1 X +NX_Q4VNC0 Probable cation-transporting ATPase 13A5 1218 137327 8.19 10 Membrane NA NA NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. Ion transport by P-type ATPases PE1 3 +NX_Q4VNC1 Probable cation-transporting ATPase 13A4 1196 133987 6.27 11 Membrane;Nucleoplasm NA NA NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. Ion transport by P-type ATPases PE1 3 +NX_Q4VX62 Putative uncharacterized protein C6orf99 202 22766 8.57 0 NA NA NA NA NA NA PE4 6 +NX_Q4VX76 Synaptotagmin-like protein 3 610 68560 9.41 0 Cytoplasmic vesicle;Endomembrane system;Nucleolus NA May act as Rab effector protein and play a role in vesicle trafficking. Binds phospholipids in the presence of calcium ions (By similarity). NA NA NA PE1 6 +NX_Q4VXA5 KH homology domain-containing protein 1 237 27160 8.58 2 Membrane;Cytosol;Mitochondrion NA NA NA Belongs to the KHDC1 family. NA PE2 6 +NX_Q4VXF1 Putative protein FAM74A3 159 18188 9.41 1 Membrane NA NA NA Belongs to the FAM74 family. NA PE5 9 +NX_Q4VXU2 Polyadenylate-binding protein 1-like 614 68392 9.06 0 Cytosol;Nucleus NA NA NA Belongs to the polyadenylate-binding protein type-1 family. RNA transport;mRNA surveillance pathway;RNA degradation PE1 20 +NX_Q4W4Y0 Uncharacterized protein C14orf28 310 36306 6.18 0 Cytosol NA NA NA NA NA PE2 14 +NX_Q4W5G0 Tigger transposable element-derived protein 2 525 59623 9.12 0 Nucleus NA NA NA Belongs to the tigger transposable element derived protein family. NA PE1 4 +NX_Q4W5N1 Putative ATP-binding cassette sub-family A member 11 156 17479 9.43 0 NA NA NA NA Belongs to the ABC transporter superfamily. ABCA family. NA PE2 4 +NX_Q4W5P6 Protein TMEM155 130 14221 10.29 0 Secreted NA NA NA NA NA PE2 4 +NX_Q4ZG55 Protein GREB1 1949 216467 6.49 1 Membrane;Cytosol;Mitochondrion NA May play a role in estrogen-stimulated cell proliferation. Acts as a regulator of hormone-dependent cancer growth in breast and prostate cancers. NA Belongs to the GREB1 family. Estrogen-dependent gene expression PE1 2 +NX_Q4ZHG4 Fibronectin type III domain-containing protein 1 1894 205558 9.35 0 Nucleus speckle;Secreted NA May be an activator of G protein signaling. NA NA NA PE1 6 +NX_Q4ZIN3 Membralin 620 67889 5.14 4 Endoplasmic reticulum;Nucleus speckle;Endoplasmic reticulum membrane NA May have a role in the ERAD pathway required for clearance of misfolded proteins in the endoplasmic reticulum (ER). Promotes survival of motor neurons, probably by protecting against ER stress. NA Belongs to the membralin family. NA PE1 19 +NX_Q4ZJI4 Sodium/hydrogen exchanger 9B1 515 56054 8.27 13 Flagellum membrane NA Sperm-specific Na(+)/H(+) exchanger involved in intracellular pH regulation of spermatozoa. Involved in sperm motility and fertility. NA Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. Stimuli-sensing channels PE1 4 +NX_Q502W6 von Willebrand factor A domain-containing protein 3B 1294 145748 7.01 0 Nucleoplasm;Cytoplasm;Cytosol Spinocerebellar ataxia, autosomal recessive, 22 NA NA NA NA PE1 2 +NX_Q502W7 Coiled-coil domain-containing protein 38 563 65315 8.81 0 Centrosome NA NA NA NA NA PE1 12 +NX_Q502X0 MORN repeat-containing protein 2 79 8939 5.4 0 Nucleoplasm;Nucleus;Acrosome NA Might have a role in spermatogenesis. NA NA NA PE1 2 +NX_Q504Q3 PAN2-PAN3 deadenylation complex catalytic subunit PAN2 1202 135368 5.64 0 Cytoplasm;P-body;Nucleus NA Catalytic subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenlyation-dependent mRNA decaping and subsequent 5'-3' exonucleolytic degradation by XRN1. Also acts as an important regulator of the HIF1A-mediated hypoxic response. Required for HIF1A mRNA stability independent of poly(A) tail length regulation. NA Belongs to the peptidase C19 family. PAN2 subfamily. RNA degradation;Deadenylation of mRNA PE1 12 +NX_Q504T8 Midnolin 468 49213 9.67 0 Nucleoplasm;Nucleolus;Cytosol;Nucleus NA Facilitates ubiquitin-independent proteasomal degradation of polycomb protein CBX4. Plays a role in inhibiting the activity of glucokinase GCK and both glucose-induced and basal insulin secretion. NA NA NA PE1 19 +NX_Q504U0 Renal cancer differentiation gene 1 protein 113 11899 4.24 0 Cytoplasm;Nucleoplasm NA NA NA NA NA PE1 4 +NX_Q504Y0 Zinc transporter ZIP12 691 76666 5.85 8 Membrane NA Acts as a zinc-influx transporter (Potential). May be partly involved in the outbreak of schizophrenia. NA Belongs to the ZIP transporter (TC 2.A.5) family. NA PE1 10 +NX_Q504Y2 Extracellular tyrosine-protein kinase PKDCC 493 54132 8.76 0 Golgi apparatus;Secreted NA Secreted tyrosine-protein kinase that mediates phosphorylation of extracellular proteins and endogenous proteins in the secretory pathway, which is essential for patterning at organogenesis stages. Mediates phosphorylation of MMP1, MMP13, MMP14, MMP19 and ERP29 (PubMed:25171405). Probably plays a role in platelets: rapidly and quantitatively secreted from platelets in response to stimulation of platelet degranulation (PubMed:25171405). May also have serine/threonine protein kinase activity. Required for longitudinal bone growth through regulation of chondrocyte differentiation. May be indirectly involved in protein transport from the Golgi apparatus to the plasma membrane (By similarity). N-glycosylated.;Phosphorylated on tyrosines; probably via autophosphorylation. Belongs to the protein kinase superfamily. NA PE1 2 +NX_Q504Y3 Zinc finger CW-type PWWP domain protein 2 356 41376 5.56 0 Nucleus speckle NA NA NA NA NA PE1 3 +NX_Q50LG9 Leucine-rich repeat-containing protein 24 513 55257 9.24 1 Membrane;Cytoplasmic vesicle NA NA NA NA NA PE1 8 +NX_Q52LA3 Protein lin-52 homolog 116 13001 4.89 0 Nucleus speckle NA NA NA Belongs to the lin-52 family. G0 and Early G1;G1/S-Specific Transcription;Polo-like kinase mediated events;Cyclin E associated events during G1/S transition;Cyclin A:Cdk2-associated events at S phase entry;Transcription of E2F targets under negative control by DREAM complex;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1 PE1 14 +NX_Q52LC2 V-type proton ATPase subunit S1-like protein 224 25310 9.6 1 Membrane;Cytosol;Nucleolus NA NA NA Belongs to the vacuolar ATPase subunit S1 family. NA PE2 5 +NX_Q52LD8 Raftlin-2 501 55922 5.56 0 Cell membrane NA Upon bacterial lipopolysaccharide stimulation, mediates clathrin-dependent internalization of TLR4 in dendritic cells, resulting in activation of TICAM1-mediated signaling and subsequent IFNB1 production. May regulate B-cell antigen receptor-mediated signaling. NA Belongs to the raftlin family. NA PE1 2 +NX_Q52LG2 Keratin-associated protein 13-2 175 18727 8.72 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity). NA Belongs to the PMG family. Keratinization PE1 21 +NX_Q52LJ0 Protein FAM98B 433 45547 8.88 0 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Nucleus NA Positively stimulates PRMT1-induced protein arginine dimethylated arginine methylation (PubMed:28040436). Promotes colorectal cancer cell malignancy (PubMed:28040436). NA Belongs to the FAM98 family. tRNA processing in the nucleus PE1 15 +NX_Q52LR7 Enhancer of polycomb homolog 2 807 91095 8.95 0 Nucleus speckle;Nucleus NA May play a role in transcription or DNA repair. NA Belongs to the enhancer of polycomb family. NA PE1 2 +NX_Q52LW3 Rho GTPase-activating protein 29 1261 142064 6.32 0 Nucleoplasm;Cytosol;Centrosome;Cell membrane NA GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has strong activity toward RHOA, and weaker activity toward RAC1 and CDC42. May act as a specific effector of RAP2A to regulate Rho. In concert with RASIP1, suppresses RhoA signaling and dampens ROCK and MYH9 activities in endothelial cells and plays an essential role in blood vessel tubulogenesis. NA NA Rho GTPase cycle PE1 1 +NX_Q52M58 Putative uncharacterized protein C14orf177 125 13861 9.23 0 NA NA NA NA NA NA PE2 14 +NX_Q52M75 Putative uncharacterized protein encoded by LINC01554 96 10857 9.96 0 NA NA NA NA NA NA PE4 5 +NX_Q52M93 Zinc finger protein 585B 769 88066 9.26 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q52MB2 Coiled-coil domain-containing protein 184 194 20484 4.04 0 Cytoplasm;Cytosol;Mitochondrion NA NA NA NA NA PE1 12 +NX_Q52WX2 Serine/threonine-protein kinase SBK1 424 46252 9.28 0 Cytoplasm NA May be involved in signal-transduction pathways related to the control of brain development. NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. NA PE1 16 +NX_Q537H7 Spermatogenesis-associated protein 45 98 11356 10.08 0 NA NA NA NA Belongs to the SPATA45 family. NA PE1 1 +NX_Q538Z0 Leucine zipper protein 6 58 6437 9.7 0 Lipid droplet NA NA NA NA NA PE1 7 +NX_Q53EL6 Programmed cell death protein 4 469 51735 5.07 0 Nucleoplasm;Cytoplasm;Nucleus NA Inhibits translation initiation and cap-dependent translation. May excert its function by hindering the interaction between EIF4A1 and EIF4G. Inhibits the helicase activity of EIF4A. Modulates the activation of JUN kinase. Down-regulates the expression of MAP4K1, thus inhibiting events important in driving invasion, namely, MAPK85 activation and consequent JUN-dependent transcription. May play a role in apoptosis. Tumor suppressor. Inhibits tumor promoter-induced neoplastic transformation. Binds RNA (By similarity). Phosphorylated at Ser-67 by RPS6KB1 in response to mitogens; phosphorylation promotes proteasomal degradation of PDCD4.;Polyubiquitinated, leading to its proteasomal degradation. Rapidly degraded in response to mitogens. Phosphorylation of the phosphodegron promotes interaction with BTRC and proteasomal degradation. Belongs to the PDCD4 family. Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 10 +NX_Q53EL9 Seizure protein 6 homolog 994 107425 5.16 1 Cell membrane NA May play a role in cell-cell recognition and in neuronal membrane signaling. Seems to be important for the achievement of the necessary balance between dendrite elongation and branching during the elaboration of a complex dendritic arbor. Involved in the development of appropriate excitatory synaptic connectivity (By similarity). Glycosylated. Belongs to the SEZ6 family. NA PE1 17 +NX_Q53EP0 Fibronectin type III domain-containing protein 3B 1204 132888 5.64 1 Membrane;Endoplasmic reticulum NA May be a positive regulator of adipogenesis. NA Belongs to the FNDC3 family. NA PE1 3 +NX_Q53EQ6 Tigger transposable element-derived protein 5 642 69222 8.68 0 Nucleus NA NA NA Belongs to the tigger transposable element derived protein family. NA PE1 8 +NX_Q53ET0 CREB-regulated transcription coactivator 2 693 73302 6.6 0 Cytoplasm;Nucleoplasm;Nucleus NA Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates gluconeogenesis as a component of the LKB1/AMPK/TORC2 signaling pathway. Regulates the expression of specific genes such as the steroidogenic gene, StAR. Potent coactivator of PPARGC1A and inducer of mitochondrial biogenesis in muscle cells. Also coactivator for TAX activation of the human T-cell leukemia virus type 1 (HTLV-1) long terminal repeats (LTR). Asymmetric dimethylation of arginine resisues by PRMT6 enhances the association of CRTC2 with CREB on the promoters of gluconeogenic genes.;Phosphorylation/dephosphorylation states of Ser-171 are required for regulating transduction of CREB activity (PubMed:15589160, PubMed:17210223). CRTCs/TORCs are inactive when phosphorylated, and active when dephosphorylated at this site (PubMed:17210223). This primary site of phosphorylation, is regulated by cAMP and calcium levels and is dependent on the phosphorylation of SIKs (SIK1 and SIK2) by LKB1 (PubMed:15454081, PubMed:16817901). Following adenylyl cyclase activation, dephosphorylated at Ser-171 by PPP3CA/calcineurin A resulting in CRTC2 dissociation from 14-3-3 proteins and PPP3CA (By similarity). Both insulin and AMPK increase this phosphorylation of CRTC2 while glucagon suppresses it (PubMed:15454081). Phosphorylation at Ser-274 by MARK2 is induced under low glucose conditions and dephosphorylated in response to glucose influx (PubMed:18626018). Phosphorylation at Ser-274 promotes interaction with 14-3-3 proteins and translocation to the cytoplasm (PubMed:18626018). Belongs to the TORC family. HTLV-I infection;Circadian Clock;Transcriptional activation of mitochondrial biogenesis PE1 1 +NX_Q53EU6 Glycerol-3-phosphate acyltransferase 3 434 48705 9.05 3 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA Converts glycerol-3-phosphate to 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) by incorporating an acyl moiety at the sn-1 position of the glycerol backbone (PubMed:17170135). Also converts LPA into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (PubMed:19318427). NA Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. Glycerolipid metabolism; triacylglycerol biosynthesis.;Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 1/3.;Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PA PE1 4 +NX_Q53EV4 Leucine-rich repeat-containing protein 23 343 39761 4.57 0 Nucleolus NA NA NA NA NA PE1 12 +NX_Q53EZ4 Centrosomal protein of 55 kDa 464 54178 6.55 0 Cytoplasm;Cleavage furrow;Centriole;Cell membrane;Centriolar satellite;Centrosome;Midbody;Midbody ring Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly Plays a role in mitotic exit and cytokinesis (PubMed:16198290, PubMed:17853893). Recruits PDCD6IP and TSG101 to midbody during cytokinesis. Required for successful completion of cytokinesis (PubMed:17853893). Not required for microtubule nucleation (PubMed:16198290). Plays a role in the development of the brain and kidney (PubMed:28264986). There is a hierachy of phosphorylation, where both Ser-425 and Ser-428 are phosphorylated at the onset of mitosis, prior to Ser-436. Phosphorylation at Ser-425 and Ser-428 is required for dissociation from the centrosome at the G2/M boundary. Phosphorylation at the 3 sites, Ser-425, Ser-428 and Ser-436, is required for protein function at the final stages of cell division to complete cytokinesis successfully. NA NA PE1 10 +NX_Q53F19 Nuclear cap-binding protein subunit 3 620 70593 5.55 0 Cytoplasm;Nucleus speckle;Nucleus NA Associates with NCBP1/CBP80 to form an alternative cap-binding complex (CBC) which plays a key role in mRNA export. NCBP3 serves as adapter protein linking the capped RNAs (m7GpppG-capped RNA) to NCBP1/CBP80. Unlike the conventional CBC with NCBP2 which binds both small nuclear RNA (snRNA) and messenger (mRNA) and is involved in their export from the nucleus, the alternative CBC with NCBP3 does not bind snRNA and associates only with mRNA thereby playing a role in only mRNA export. The alternative CBC is particularly important in cellular stress situations such as virus infections and the NCBP3 activity is critical to inhibit virus growth (PubMed:26382858). NA Belongs to the NCBP3 family. NA PE1 17 +NX_Q53F39 Metallophosphoesterase 1 396 45141 6.71 2 Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment membrane;Nucleoplasm;cis-Golgi network membrane NA Metallophosphoesterase required for transport of GPI-anchor proteins from the endoplasmic reticulum to the Golgi. Acts in lipid remodeling steps of GPI-anchor maturation by mediating the removal of a side-chain ethanolamine-phosphate (EtNP) from the second Man (Man2) of the GPI intermediate, an essential step for efficient transport of GPI-anchor proteins. NA Belongs to the metallophosphoesterase superfamily. MPPE1 family. NA PE1 18 +NX_Q53FA7 Quinone oxidoreductase PIG3 332 35536 6.66 0 Cytoplasmic vesicle NA May be involved in the generation of reactive oxygen species (ROS). Has low NADPH-dependent beta-naphthoquinone reductase activity, with a preference for 1,2-beta-naphthoquinone over 1,4-beta-naphthoquinone. Has low NADPH-dependent diamine reductase activity (in vitro). NA Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily. p53 signaling pathway;TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain PE1 2 +NX_Q53FD0 Zinc finger C2HC domain-containing protein 1C 456 51658 9.58 0 Cytoplasm;Nucleus speckle;Mitochondrion NA NA NA Belongs to the ZC2HC1 family. NA PE1 14 +NX_Q53FE4 Uncharacterized protein C4orf17 359 39644 9.4 0 NA NA NA NA NA NA PE1 4 +NX_Q53FP2 Transmembrane protein 35A 167 18440 10.09 4 Cytoplasmic vesicle;Cytosol;Peroxisome membrane;Focal adhesion NA A soluble peptide released by shedding may interact with NGFR and modulate neurite outgrowth. NA Belongs to the DoxX family. NA PE1 X +NX_Q53FT3 Protein Hikeshi 197 21628 5.27 0 Cytoplasm;Nucleus speckle;Nucleoplasm;Cytosol;Nucleus Leukodystrophy, hypomyelinating, 13 Acts as a specific nuclear import carrier for HSP70 proteins following heat-shock stress: acts by mediating the nucleoporin-dependent translocation of ATP-bound HSP70 proteins into the nucleus. HSP70 proteins import is required to protect cells from heat shock damages. Does not translocate ADP-bound HSP70 proteins into the nucleus. NA Belongs to the OPI10 family. Regulation of HSF1-mediated heat shock response PE1 11 +NX_Q53FV1 ORM1-like protein 2 153 17363 9.64 2 Endoplasmic reticulum membrane NA Negative regulator of sphingolipid synthesis. NA Belongs to the ORM family. Sphingolipid de novo biosynthesis PE1 12 +NX_Q53FZ2 Acyl-coenzyme A synthetase ACSM3, mitochondrial 586 66153 9.16 0 Mitochondrion matrix NA Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (By similarity). Capable of activating medium-chain fatty acids with a preference for isobutyrate among fatty acids with 2-6 carbon atoms (By similarity). NA Belongs to the ATP-dependent AMP-binding enzyme family. Butanoate metabolism;Metabolic pathways;Beta oxidation of butanoyl-CoA to acetyl-CoA PE1 16 +NX_Q53G44 Interferon-induced protein 44-like 452 51322 6.33 0 Cytoplasm;Nucleoplasm NA Exhibits a low antiviral activity against hepatitis C virus. NA Belongs to the IFI44 family. NA PE1 1 +NX_Q53G59 Kelch-like protein 12 568 63277 5.26 0 Cytoplasmic vesicle;Centriolar satellite;COPII-coated vesicle NA Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a negative regulator of Wnt signaling pathway and ER-Golgi transport (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B) (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is also involved in neural crest specification: in response to cytosolic calcium increase, interacts with the heterodimer formed with PEF1 and PDCD6/ALG-2, leading to bridge together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export (PubMed:27716508). As part of the BCR(KLHL12) complex, also acts as a negative regulator of the Wnt signaling pathway by mediating ubiquitination and subsequent proteolysis of DVL3 (PubMed:16547521). The BCR(KLHL12) complex also mediates polyubiquitination of DRD4 and PEF1, without leading to degradation of these proteins (PubMed:18303015, PubMed:20100572, PubMed:27716508). Ubiquitinated by the SCF(FBXL17) complex, leading to its degradation by the proteaseome: ubiquitination by the SCF(FBXL17) complex takes place when aberrant BTB domain dimers are formed. NA Protein modification; protein ubiquitination.;Degradation of DVL PE1 1 +NX_Q53GA4 Pleckstrin homology-like domain family A member 2 152 17092 9.3 0 Membrane;Cytoplasm;Nucleolus NA Plays a role in regulating placenta growth. May act via its PH domain that competes with other PH domain-containing proteins, thereby preventing their binding to membrane lipids (By similarity). NA Belongs to the PHLDA2 family. NA PE1 11 +NX_Q53GD3 Choline transporter-like protein 4 710 79254 8.91 10 Membrane;Apical cell membrane Deafness, autosomal dominant, 72 Has also thiamine pyrophosphate transporter activity.;Choline transporter that plays a role in the choline-acetylcholine system and is required to the efferent innervation of hair cells in the olivocochlear bundle for the maintenance of physiological function of outer hair cells and the protection of hair cells from acoustic injury (By similarity) (PubMed:23651124, PubMed:28013291). Also described as a thiamine pyrophosphate transporter in colon, may mediate the absorption of microbiota-generated thiamine pyrophosphate and contribute to host thiamine (vitamin B1) homeostasis (PubMed:24379411). N-glycosylated; N-glycosylation of Asn-69, Asn-155 and Asn-393 is required for a proper thiamine pyrophosphate uptake. Belongs to the CTL (choline transporter-like) family. Synthesis of PC;Transport of bile salts and organic acids, metal ions and amine compounds PE1 6 +NX_Q53GG5 PDZ and LIM domain protein 3 364 39232 6.42 0 Cytosol;Z line NA May play a role in the organization of actin filament arrays within muscle cells. NA NA NA PE1 4 +NX_Q53GI3 Zinc finger protein 394 561 64256 8.14 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_Q53GL0 Pleckstrin homology domain-containing family O member 1 409 46237 8.93 0 Cytoplasm;Mitochondrion;Nucleus;Cell membrane NA Plays a role in the regulation of the actin cytoskeleton through its interactions with actin capping protein (CP). May function to target CK2 to the plasma membrane thereby serving as an adapter to facilitate the phosphorylation of CP by protein kinase 2 (CK2). Appears to target ATM to the plasma membrane. Appears to also inhibit tumor cell growth by inhibiting AKT-mediated cell-survival. Also implicated in PI3K-regulated muscle differentiation, the regulation of AP-1 activity (plasma membrane bound AP-1 regulator that translocates to the nucleus) and the promotion of apoptosis induced by tumor necrosis factor TNF. When bound to PKB, it inhibits it probably by decreasing PKB level of phosphorylation. C-terminal fragments could be released during apoptosis via caspase-3-dependent cleavage. NA NA PE1 1 +NX_Q53GL7 Protein mono-ADP-ribosyltransferase PARP10 1025 109998 4.9 0 Golgi apparatus;Cytoplasm;Cytosol;Nucleolus NA ADP-ribosyltransferase that mediates mono-ADP-ribosylation of glutamate and aspartate residues on target proteins (PubMed:18851833, PubMed:23332125, PubMed:23474714, PubMed:25043379). In contrast to PARP1 and PARP2, it is not able to mediate poly-ADP-ribosylation (PubMed:18851833). Catalyzes mono-ADP-ribosylation of GSK3B, leading to negatively regulate GSK3B kinase activity (PubMed:23332125). Involved in translesion DNA synthesis in response to DNA damage via its interaction with PCNA (PubMed:24695737). Auto-mono-ADP-ribosylated on glutamate and lysine residues.;Stimulated through its phosphorylation by CDK2 (PubMed:16455663). Acquires CDK-dependent phosphorylation through late-G1 to S phase, and from prometaphase to cytokinesis in the nucleolar organizing regions (PubMed:16455663). Phosphorylation is suppressed in growth-arrested cells (PubMed:16455663). NA Nicotinamide salvaging PE1 8 +NX_Q53GQ0 Very-long-chain 3-oxoacyl-CoA reductase 312 34324 9.34 3 Endoplasmic reticulum membrane NA Catalyzes the second of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme has a 3-ketoacyl-CoA reductase activity, reducing 3-ketoacyl-CoA to 3-hydroxyacyl-CoA, within each cycle of fatty acid elongation. Thereby, it may participate in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May also catalyze the transformation of estrone (E1) into estradiol (E2) and play a role in estrogen formation. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily. Lipid metabolism; fatty acid biosynthesis.;Steroid biosynthesis; estrogen biosynthesis.;Fatty acid elongation;Steroid hormone biosynthesis;Biosynthesis of unsaturated fatty acids;Metabolic pathways;Synthesis of very long-chain fatty acyl-CoAs;Androgen biosynthesis PE1 11 +NX_Q53GS7 Nucleoporin GLE1 698 79836 7.06 0 Cytoplasm;Nuclear pore complex;Nucleolus;Nucleus membrane;Nucleus Congenital arthrogryposis with anterior horn cell disease;Lethal congenital contracture syndrome 1 Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC). NA Belongs to the GLE1 family. Transport of Mature mRNA derived from an Intron-Containing Transcript PE1 9 +NX_Q53GS9 U4/U6.U5 tri-snRNP-associated protein 2 565 65381 9.02 0 Nucleoplasm;Nucleus NA Plays a role in pre-mRNA splicing as a component of the U4/U6-U5 tri-snRNP, one of the building blocks of the precatalytic spliceosome (PubMed:11350945, PubMed:26912367). Regulates AURKB mRNA levels, and thereby plays a role in cytokinesis and in the spindle checkpoint. Does not have ubiquitin-specific peptidase activity (PubMed:18728397). NA Belongs to the peptidase C19 family. Spliceosome;mRNA Splicing - Major Pathway PE1 2 +NX_Q53GT1 Kelch-like protein 22 634 71667 5.28 0 Golgi apparatus;Centrosome;Lysosome;Cytosol;Spindle;Nucleus;Cytoskeleton NA Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for chromosome alignment and localization of PLK1 at kinetochores. The BCR(KLHL22) ubiquitin ligase complex mediates monoubiquitination of PLK1, leading to PLK1 dissociation from phosphoreceptor proteins and subsequent removal from kinetochores, allowing silencing of the spindle assembly checkpoint (SAC) and chromosome segregation. Monoubiquitination of PLK1 does not lead to PLK1 degradation (PubMed:19995937, PubMed:23455478). The BCR(KLHL22) ubiquitin ligase complex is also responsible for the amino acid-stimulated 'Lys-48' polyubiquitination and proteasomal degradation of DEPDC5. Through the degradation of DEPDC5, releases the GATOR1 complex-mediated inhibition of the TORC1 pathway. It is therefore an amino acid-dependent activator within the amino acid-sensing branch of the TORC1 pathway, indirectly regulating different cellular processes including cell growth and autophagy (PubMed:29769719). NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 22 +NX_Q53H12 Acylglycerol kinase, mitochondrial 422 47137 8.3 0 Cytoplasmic vesicle;Mitochondrion intermembrane space;Mitochondrion inner membrane;Mitochondrion Mitochondrial DNA depletion syndrome 10;Cataract 38 Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively (PubMed:15939762). Does not phosphorylate sphingosine (PubMed:15939762). Phosphorylates ceramide (By similarity). Phosphorylates 1,2-dioleoylglycerol more rapidly than 2,3-dioleoylglycerol (By similarity). Independently of its lipid kinase activity, acts as a component of the TIM22 complex (PubMed:28712724, PubMed:28712726). The TIM22 complex mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane by forming a twin-pore translocase that uses the membrane potential as the external driving force (PubMed:28712724, PubMed:28712726). In the TIM22 complex, required for the import of a subset of metabolite carriers into mitochondria, such as ANT1/SLC25A4 and SLC25A24, while it is not required for the import of TIMM23 (PubMed:28712724). Overexpression increases the formation and secretion of LPA, resulting in transactivation of EGFR and activation of the downstream MAPK signaling pathway, leading to increased cell growth (PubMed:15939762). NA Belongs to the AGK family. Lipid metabolism; glycerolipid metabolism.;Glycerolipid metabolism;Metabolic pathways;Glycerophospholipid biosynthesis;Signaling by BRAF and RAF fusions PE1 7 +NX_Q53H47 Histone-lysine N-methyltransferase SETMAR 684 78034 6.75 0 Nucleus;Nucleolus;Chromosome NA Protein derived from the fusion of a methylase with the transposase of an Hsmar1 transposon that plays a role in DNA double-strand break repair, stalled replication fork restart and DNA integration. DNA-binding protein, it is indirectly recruited to sites of DNA damage through protein-protein interactions. Has also kept a sequence-specific DNA-binding activity recognizing the 19-mer core of the 5'-terminal inverted repeats (TIRs) of the Hsmar1 element and displays a DNA nicking and end joining activity (PubMed:16332963, PubMed:16672366, PubMed:17877369, PubMed:17403897, PubMed:18263876, PubMed:22231448, PubMed:24573677, PubMed:20521842). In parallel, has a histone methyltransferase activity and methylates 'Lys-4' and 'Lys-36' of histone H3. Specifically mediates dimethylation of H3 'Lys-36' at sites of DNA double-strand break and may recruit proteins required for efficient DSB repair through non-homologous end-joining (PubMed:16332963, PubMed:21187428, PubMed:22231448). Also regulates replication fork processing, promoting replication fork restart and regulating DNA decatenation through stimulation of the topoisomerase activity of TOP2A (PubMed:18790802, PubMed:20457750). Methylated. Methylation regulates activity in DNA decatenation.;Phosphorylated at Ser-508 by CHEK1 and dephosphorylated by protein phosphatase 2A/PP2A. Phosphorylation at Ser-508 is enhanced by DNA damage and promotes recruitment to damaged DNA. It stimulates DNA repair and impairs replication fork restart. In the N-terminal section; belongs to the class V-like SAM-binding methyltransferase superfamily.;In the C-terminal section; belongs to the mariner transposase family. Lysine degradation PE1 3 +NX_Q53H54 tRNA wybutosine-synthesizing protein 2 homolog 448 50236 8.21 0 Nucleoplasm;Mitochondrion NA S-adenosyl-L-methionine-dependent transferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the transfer of the alpha-amino-alpha-carboxypropyl (acp) group from S-adenosyl-L-methionine to the C-7 position of 4-demethylwyosine (imG-14) to produce wybutosine-86. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. TRM5/TYW2 family. tRNA modification; wybutosine-tRNA(Phe) biosynthesis.;Synthesis of wybutosine at G37 of tRNA(Phe) PE1 8 +NX_Q53H64 Putative ANKRD40 C-terminal-like protein 114 13397 7.65 0 NA NA NA NA NA NA PE2 17 +NX_Q53H76 Phospholipase A1 member A 456 49715 7.11 0 Nucleoplasm;Cytosol;Nucleus speckle;Secreted NA Hydrolyzes the ester bond at the sn-1 position of glycerophospholipids and produces 2-acyl lysophospholipids. Hydrolyzes phosphatidylserine (PS) in the form of liposomes and 1-acyl-2 lysophosphatidylserine (lyso-PS), but not triolein, phosphatidylcholine (PC), phosphatidylethanolamine (PE), phosphatidic acid (PA) or phosphatidylinositol (PI).;Hydrolyzes lyso-PS but not PS. Hydrolysis of lyso-PS in peritoneal mast cells activated by receptors for IgE leads to stimulate histamine production. NA Belongs to the AB hydrolase superfamily. Lipase family. Acyl chain remodelling of PS PE1 3 +NX_Q53H80 Akirin-2 203 22496 8.96 0 Nucleoplasm;Nucleus NA Required for the innate immune response. Downstream effector of the Toll-like receptor (TLR), TNF and IL-1 beta signaling pathways leading to the production of IL-6. Forms a complex with YWHAB that acts to repress transcription of DUSP1 (By similarity). NA Belongs to the akirin family. NA PE1 6 +NX_Q53H82 Endoribonuclease LACTB2 288 32806 6.32 0 Golgi apparatus;Nucleoplasm;Mitochondrion matrix;Cytosol NA Endoribonuclease; cleaves preferentially 3' to purine-pyrimidine dinucleotide motifs in single-stranded RNA. The cleavage product contains a free 3' -OH group. Has no activity with double-stranded RNA or DNA. Required for normal mitochondrial function and cell viability. NA Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family. NA PE1 8 +NX_Q53H96 Pyrroline-5-carboxylate reductase 3 274 28663 7.66 0 Nucleoplasm;Cytoplasm;Cytosol NA Enzyme that catalyzes the last step in proline biosynthesis. Proline is synthesized from either glutamate or ornithine; both are converted to pyrroline-5-carboxylate (P5C), and then to proline via pyrroline-5-carboxylate reductases (PYCRs). PYCRL is exclusively linked to the conversion of ornithine to proline. NA Belongs to the pyrroline-5-carboxylate reductase family. Amino-acid biosynthesis; L-proline biosynthesis; L-proline from L-glutamate 5-semialdehyde: step 1/1.;Arginine and proline metabolism;Metabolic pathways;Glutamate and glutamine metabolism PE1 8 +NX_Q53HC0 Coiled-coil domain-containing protein 92 331 36961 8.96 0 Nucleoplasm;Centrosome;Centriole NA NA NA NA NA PE1 12 +NX_Q53HC5 Kelch-like protein 26 615 68139 6.04 0 NA NA NA NA NA NA PE1 19 +NX_Q53HC9 EARP and GARP complex-interacting protein 1 387 43603 4.87 0 trans-Golgi network;Nucleoplasm;Nucleolus;Cytoskeleton NA Acts as a component of endosomal retrieval machinery that is involved in protein transport from early endosomes to either recycling endosomes or the trans-Golgi network. Mediates the recruitment of Golgi-associated retrograde protein (GARP) complex to the trans-Golgi network and controls early endosome-to-Golgi transport of internalized protein. Promotes the recycling of internalized transferrin receptor (TFRC) to the plasma membrane through interaction with endosome-associated recycling protein (EARP) complex. NA Belongs to the WD repeat EIPR1 family. NA PE1 2 +NX_Q53HI1 Protein unc-50 homolog 259 30373 9.5 5 Endoplasmic reticulum;Golgi apparatus membrane;Nucleus inner membrane NA May be involved in cell surface expression of neuronal nicotinic receptors. Binds RNA (By similarity). NA Belongs to the unc-50 family. NA PE1 2 +NX_Q53HL2 Borealin 280 31323 9.88 0 Cytoplasm;Nucleolus;Nucleoplasm;Centromere;Spindle;Cytoskeleton NA Component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Major effector of the TTK kinase in the control of attachment-error-correction and chromosome alignment. Phosphorylated by TTK, essentially at Thr-88, Thr94, Thr-169 and Thr-230. Phosphorylation (probably by CDK1) promotes targeting of the CPC to centromeric DNA.;Sumoylated by UBE2I and RANBP2. Desumoylated by SENP3 through the removal of SUMO2 and SUMO3. Belongs to the borealin family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;SUMOylation of DNA replication proteins PE1 1 +NX_Q53HV7 Single-strand selective monofunctional uracil DNA glycosylase 270 29862 6.18 0 Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Recognizes base lesions in the genome and initiates base excision DNA repair. Acts as a monofunctional DNA glycosylase specific for uracil (U) residues in DNA with a preference for single-stranded DNA substrates. The activity is greater toward mismatches (U/G) compared to matches (U/A). Excises uracil (U), 5-formyluracil (fU) and uracil derivatives bearing an oxidized group at C5 [5-hydroxyuracil (hoU) and 5-hydroxymethyluracil (hmU)] in ssDNA and dsDNA, but not analogous cytosine derivatives (5-hydroxycytosine and 5-formylcytosine), nor other oxidized bases. The activity is damage-specific and salt-dependent. The substrate preference is the following: ssDNA > dsDNA (G pair) = dsDNA (A pair) at low salt concentration, and dsDNA (G pair) > dsDNA (A pair) > ssDNA at high salt concentration. NA Belongs to the uracil-DNA glycosylase (UDG) superfamily. SMUG1 family. Base excision repair;Displacement of DNA glycosylase by APEX1;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine PE1 12 +NX_Q53LP3 Ankyrin repeat domain-containing protein SOWAHC 525 55672 6.55 0 Cytosol NA NA NA Belongs to the SOWAH family. NA PE1 2 +NX_Q53QV2 Protein LBH 105 12217 4.33 0 Cytoplasm;Nucleus;Cytoplasmic vesicle NA Transcriptional activator which may act in mitogen-activated protein kinase signaling pathway. NA Belongs to the LBH family. NA PE1 2 +NX_Q53QW1 Testis-expressed protein 44 395 41589 4.97 0 Cytoplasm NA NA NA NA NA PE1 2 +NX_Q53QZ3 Rho GTPase-activating protein 15 475 54544 9.42 0 Cytoplasm;Golgi apparatus;Membrane;Nucleoplasm;Cytoplasmic vesicle NA GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has activity toward RAC1. Overexpression results in an increase in actin stress fibers and cell contraction. NA NA Rho GTPase cycle PE1 2 +NX_Q53R12 Transmembrane 4 L6 family member 20 229 25075 6.4 4 Membrane;Endoplasmic reticulum membrane;Focal adhesion;Cell membrane Specific language impairment 5 Polytopic transmembrane protein that inhibits regulated intramembrane proteolysis (RIP) of CREB3L1, inhibiting its activation and the induction of collagen synthesis (PubMed:25310401, PubMed:27499293). In response to ceramide, which alters TM4SF20 membrane topology, stimulates RIP activation of CREB3L1 (PubMed:27499293). Ceramide reverses the direction through which transmembrane helices are translocated into the endoplasmic reticulum membrane during translation of TM4SF20, this mechanism is called 'regulated alternative translocation' (RAT) and regulates the function of the transmembrane protein (PubMed:27499293). Cleaved by signal peptidase at Ser-14 but the peptide does not act as a signal peptide. Cleavage is inhibited by ceramide which inverts the orientation of TM4SF20 in membranes exposing the N-terminus to the cytosol and not to the endoplasmic reticulum lumen.;Glycosylated at Asn-132, Asn-148 and Asn-163 in presence of ceramide which inverts the orientation of TM4SF20 in membranes exposing these residues to the endoplasmic reticulum lumen. Belongs to the L6 tetraspanin family. NA PE1 2 +NX_Q53R41 FAST kinase domain-containing protein 1, mitochondrial 847 97411 7.8 0 Nucleoplasm;Mitochondrion NA Involved in the down-regulation of mitochondrial MT-ND3 mRNA levels which leads to decreased respiratory complex I abundance and activity. NA Belongs to the FAST kinase family. NA PE1 2 +NX_Q53RD9 Fibulin-7 439 47376 7.88 0 Cell junction;Extracellular matrix;Cell membrane NA An adhesion molecule that interacts with extracellular matrix molecules in developing teeth and may play important roles in differentiation and maintenance of odontoblasts as well as in dentin formation. N-glycosylated. Belongs to the fibulin family. NA PE1 2 +NX_Q53RE8 Ankyrin repeat domain-containing protein 39 183 19651 6.39 0 Nucleoplasm;Cytoplasmic vesicle NA NA NA Belongs to the ANKRD39 family. NA PE1 2 +NX_Q53RT3 Retroviral-like aspartic protease 1 343 36991 5.28 1 Membrane NA NA Undergoes autocleavage which is necessary for activation of the protein. NA NA PE1 2 +NX_Q53RY4 Keratinocyte-associated protein 3 240 25627 8.12 4 Membrane;Nucleoplasm;Cytosol NA NA NA Belongs to the TMEM54 family. NA PE1 2 +NX_Q53S08 Ras-related protein Rab-6D 254 28242 6.41 0 NA NA NA NA Belongs to the small GTPase superfamily. Rab family. NA PE2 2 +NX_Q53S33 BolA-like protein 3 107 12114 9.66 0 Cytosol;Mitochondrion;Nucleus Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins. Probably acts together with NFU1 (PubMed:27532772). NA Belongs to the BolA/IbaG family. NA PE1 2 +NX_Q53S58 Transmembrane protein 177 311 33760 9.66 3 Nucleoplasm;Mitochondrion inner membrane;Nucleolus NA Plays a role in the early steps of cytochrome c oxidase subunit II (MT-CO2/COX2) maturation and is required for the stabilization of COX20 and the newly synthesized MT-CO2/COX2 protein. NA Belongs to the TMEM177 family. NA PE1 2 +NX_Q53S99 Folate transporter-like protein C2orf83 150 16373 6.18 0 Endoplasmic reticulum NA NA NA Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. NA PE2 2 +NX_Q53SF7 Cordon-bleu protein-like 1 1128 123868 6.14 0 Cell junction NA NA NA NA NA PE1 2 +NX_Q53SZ7 Proline-rich protein 30 412 44690 10.39 0 NA NA NA NA NA NA PE1 2 +NX_Q53T59 HCLS1-binding protein 3 392 42780 4.89 0 Cytosol;Nucleolus NA May be a modulator of IL-2 signaling. NA NA NA PE1 2 +NX_Q53T94 TATA box-binding protein-associated factor RNA polymerase I subunit B 588 68832 8.27 0 Nucleoplasm;Nucleolus NA Component of RNA polymerase I core factor complex that acts as a GTF2B/TFIIB-like factor and plays a key role in multiple steps during transcription initiation such as pre-initiation complex (PIC) assembly and postpolymerase recruitment events in polymerase I (Pol I) transcription. Binds rDNA promoters and plays a role in Pol I recruitment as a component of the SL1/TIF-IB complex and, possibly, directly through its interaction with RRN3. NA Belongs to the RRN7/TAF1B family. NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;SIRT1 negatively regulates rRNA expression;B-WICH complex positively regulates rRNA expression PE1 2 +NX_Q53TN4 Cytochrome b reductase 1 286 31641 8.89 6 Membrane;Golgi apparatus;Cytosol NA Ferric-chelate reductase that reduces Fe(3+) to Fe(2+). Present at the brush border of duodenal enterocytes where it probably reduces dietary Fe(3+) thereby facilitating its transport into the mucosal cells. Uses ascorbate as electron donor. May be involved in extracellular ascorbate recycling in erythrocyte membranes. May also act as a ferrireductase in airway epithelial cells. NA NA Mineral absorption;Iron uptake and transport PE1 2 +NX_Q53TQ3 INO80 complex subunit D 1027 113202 7.83 0 Nucleus NA Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. NA Belongs to the INO80D family. DNA Damage Recognition in GG-NER;UCH proteinases PE1 2 +NX_Q53TS8 C2 calcium-dependent domain-containing protein 6 623 71159 6.55 0 NA NA NA NA NA NA PE1 2 +NX_Q562E7 WD repeat-containing protein 81 1941 211697 5.37 0 Autophagosome membrane;Mitochondrion;Lysosome membrane;Nucleoplasm;Early endosome membrane;Cytosol;Late endosome membrane Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2;Hydrocephalus, congenital, 3, with brain anomalies Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport (PubMed:26783301). It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome (PubMed:27126989). May also play a role in aggrephagy, the macroautophagic degradation of ubiquitinated protein aggregates. In this process, may regulate the interaction of SQSTM1 with ubiquitinated proteins and also recruit MAP1LC3C (PubMed:28404643). May also be involved in maintenance of normal mitochondrial structure and organization (By similarity). NA Belongs to the WD repeat WDR81 family. NA PE1 17 +NX_Q562F6 Shugoshin 2 1265 144739 8.09 0 Nucleoplasm;Nucleus;Centromere;Kinetochore NA Cooperates with PPP2CA to protect centromeric cohesin from separase-mediated cleavage in oocytes specifically during meiosis I. Has a crucial role in protecting REC8 at centromeres from cleavage by separase. During meiosis, protects centromeric cohesion complexes until metaphase II/anaphase II transition, preventing premature release of meiosis-specific REC8 cohesin complexes from anaphase I centromeres. Is thus essential for an accurate gametogenesis. May act by targeting PPP2CA to centromeres, thus leading to cohesin dephosphorylation (By similarity). Essential for recruiting KIF2C to the inner centromere and for correcting defective kinetochore attachments. Involved in centromeric enrichment of AUKRB in prometaphase. NA Belongs to the shugoshin family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 2 +NX_Q562R1 Beta-actin-like protein 2 376 42003 5.39 0 Cytoskeleton NA Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. Oxidation of Met-45 and Met-48 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promote actin repolymerization (By similarity).;Monomethylation at Lys-85 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration (By similarity). Belongs to the actin family. NA PE1 5 +NX_Q567U6 Coiled-coil domain-containing protein 93 631 73198 8.24 0 Cytoplasmic vesicle;Early endosome;Cell membrane NA (Microbial infection) The CCC complex, in collaboration with the heterotrimeric retriever complex, mediates the exit of human papillomavirus to the cell surface.;Component of the CCC complex, which is involved in the regulation of endosomal recycling of surface proteins, including integrins, signaling receptor and channels. The CCC complex associates with SNX17, retriever and WASH complexes to prevent lysosomal degradation and promote cell surface recycling of numerous cargos such as integrins ITGA5:ITGB1 (PubMed:28892079, PubMed:25355947). Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes and is dependent on its interaction with WASHC2C (PubMed:25355947). NA Belongs to the CCDC93 family. NA PE1 2 +NX_Q567V2 Mpv17-like protein 2 206 23180 9.41 3 Membrane;Mitochondrion inner membrane NA Required for the assembly and stability of the mitochondrial ribosome (PubMed:24948607). Is a positive regulator of mitochondrial protein synthesis (PubMed:24948607). NA Belongs to the peroxisomal membrane protein PXMP2/4 family. NA PE1 19 +NX_Q569G3 Uncharacterized protein C5orf47 176 19206 10.49 0 NA NA NA NA NA NA PE1 5 +NX_Q569H4 Protein Largen 304 32812 9.09 0 Nucleoplasm;Cytosol;Midbody NA Regulator of cell size that promotes cell size increase independently of mTOR and Hippo signaling pathways. Acts by stimulating the translation of specific mRNAs, including those encoding proteins affecting mitochondrial functions. Increases mitochondrial mass and respiration. NA NA NA PE1 5 +NX_Q569K4 Zinc finger protein 385B 471 50407 9.92 0 Nucleolus;Nucleus NA May play a role in p53/TP53-mediated apoptosis. NA NA NA PE1 2 +NX_Q569K6 Coiled-coil domain-containing protein 157 752 83941 6.76 0 NA NA NA NA NA NA PE1 22 +NX_Q56A73 Spindlin-4 249 28660 7.13 0 Cytosol;Nucleolus NA Exhibits H3K4me3-binding activity. NA Belongs to the SPIN/STSY family. NA PE1 X +NX_Q56NI9 N-acetyltransferase ESCO2 601 68307 9.46 0 Golgi apparatus;Cell junction;Chromosome;Nucleoplasm;Nucleus Roberts syndrome;SC phocomelia syndrome Acetyltransferase required for the establishment of sister chromatid cohesion (PubMed:15821733, PubMed:15958495). Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during the S phase. Acetylates the cohesin component SMC3 (PubMed:21111234). NA Belongs to the acetyltransferase family. ECO subfamily. Establishment of Sister Chromatid Cohesion PE1 8 +NX_Q56P03 E2F-associated phosphoprotein 285 32762 5 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Cytosol;Nucleus NA May play an important role in the fine-tuning of both major E2F1 activities, the regulation of the cell-cycle and the induction of apoptosis. Promotes S-phase entry, and inhibits p14(ARP) expression. NA NA NA PE1 14 +NX_Q56P42 Pyrin domain-containing protein 2 97 10795 5.21 0 Cytoplasm;Nucleus NA May play a role in innate immunity by disrupting the interaction between PYCARD and NLRP3, thereby regulating the NLRP3 inflammasome (PubMed:17339483, PubMed:17178784). May also inhibit NF-kappa-B signaling distally by affecting the nuclear accumulation of RELA (PubMed:17339483, PubMed:24871464). NA NA NA PE1 3 +NX_Q56UN5 Mitogen-activated protein kinase kinase kinase 19 1328 150537 6.61 0 Cytosol NA NA NA Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. NA PE1 2 +NX_Q56UQ5 TPT1-like protein 140 15757 5.81 0 NA NA NA NA Belongs to the TCTP family. NA PE2 X +NX_Q56VL3 OCIA domain-containing protein 2 154 16954 9.24 0 Endosome;Mitochondrion NA NA NA NA NA PE1 4 +NX_Q587I9 Vesicle transport protein SFT2C 215 21790 9.96 4 Membrane NA May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex. NA Belongs to the SFT2 family. NA PE1 2 +NX_Q587J7 Putative ATP-dependent RNA helicase TDRD12 1177 132578 6.3 0 NA NA Probable ATP-binding RNA helicase required during spermatogenesis to repress transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Involved in the secondary piRNAs metabolic process. Acts via the PET complex, a multiprotein complex required during the secondary piRNAs metabolic process for the PIWIL2 slicing-triggered loading of PIWIL4 piRNAs. NA NA PIWI-interacting RNA (piRNA) biogenesis PE1 19 +NX_Q587J8 KHDC3-like protein 217 24306 9.47 0 NA Hydatidiform mole, recurrent, 2 NA NA Belongs to the KHDC1 family. NA PE1 6 +NX_Q58A44 Prostate collagen triple helix protein 107 10968 10.45 0 Cytoplasm NA May be involved in growth and survival of prostate cancer cells through the TAF-Ibeta pathway. NA NA NA PE1 13 +NX_Q58A45 PAN2-PAN3 deadenylation complex subunit PAN3 887 95613 8.8 0 P-body NA Regulatory subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenlyation-dependent mRNA decaping and subsequent 5'-3' exonucleolytic degradation by XRN1. PAN3 acts as a positive regulator for PAN activity, recruiting the catalytic subunit PAN2 to mRNA via its interaction with RNA and PABP, and to miRNA targets via its interaction with GW182 family proteins. NA Belongs to the protein kinase superfamily. PAN3 family. RNA degradation;Deadenylation of mRNA PE1 13 +NX_Q58DX5 Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 795 88682 5.78 1 Membrane;Nucleoplasm NA May be catalytically inactive. NA Belongs to the peptidase M28 family. M28B subfamily. NA PE1 3 +NX_Q58EX2 Protein sidekick-2 2172 239396 6.62 1 Nucleoplasm;Synapse;Cell membrane NA Adhesion molecule that promotes lamina-specific synaptic connections in the retina and is specifically required for the formation of neuronal circuits that detect motion. Acts by promoting formation of synapses between two specific retinal cell types: the retinal ganglion cells W3B-RGCs and the excitatory amacrine cells VG3-ACs. Formation of synapses between these two cells plays a key role in detection of motion. Promotes synaptic connectivity via homophilic interactions. NA Belongs to the sidekick family. SDK interactions PE1 17 +NX_Q58EX7 Puratrophin-1 1191 130803 5.43 0 Cell junction NA Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi. NA NA NA PE1 16 +NX_Q58F21 Bromodomain testis-specific protein 947 107954 9.05 0 Nucleus Spermatogenic failure 21 Testis-specific chromatin protein that specifically binds histone H4 acetylated at 'Lys-5' and 'Lys-8' (H4K5ac and H4K8ac, respectively) and plays a key role in spermatogenesis (PubMed:22464331, PubMed:22901802). Required in late pachytene spermatocytes: plays a role in meiotic and post-meiotic cells by binding to acetylated histones at the promoter of specific meiotic and post-meiotic genes, facilitating their activation at the appropriate time (PubMed:22901802). In the post-meiotic phase of spermatogenesis, binds to hyperacetylated histones and participates in their general removal from DNA (PubMed:22901802). Also recognizes and binds a subset of butyrylated histones: able to bind histone H4 butyrylated at 'Lys-8' (H4K8ac), while it is not able to bind H4 butyrylated at 'Lys-5' (H4K5ac) (By similarity). Also acts as a component of the splicing machinery in pachytene spermatocytes and round spermatids and participates in 3'-UTR truncation of specific mRNAs in post-meiotic spermatids (By similarity). Required for chromocenter organization, a structure comprised of peri-centromeric heterochromatin. NA NA NA PE1 1 +NX_Q58FF3 Putative endoplasmin-like protein 399 45859 5.14 0 NA NA Putative molecular chaperone. NA Belongs to the heat shock protein 90 family. NA PE5 15 +NX_Q58FF6 Putative heat shock protein HSP 90-beta 4 505 58264 4.65 0 Cytoplasm NA Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific target proteins. NA Belongs to the heat shock protein 90 family. NA PE5 15 +NX_Q58FF7 Putative heat shock protein HSP 90-beta-3 597 68325 4.71 0 Cytoplasm NA Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific target proteins. NA Belongs to the heat shock protein 90 family. NA PE5 4 +NX_Q58FF8 Putative heat shock protein HSP 90-beta 2 381 44349 4.79 0 Cytoplasm NA Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific target proteins. NA Belongs to the heat shock protein 90 family. NA PE1 4 +NX_Q58FG0 Putative heat shock protein HSP 90-alpha A5 334 38738 6.15 0 Cytoplasm NA Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific target proteins. NA Belongs to the heat shock protein 90 family. NA PE1 3 +NX_Q58FG1 Putative heat shock protein HSP 90-alpha A4 418 47712 5.07 0 Cytoplasm NA Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific target proteins. NA Belongs to the heat shock protein 90 family. NA PE5 4 +NX_Q58G82 Putative synaptotagmin-14-like protein 188 21436 9.56 0 NA NA Plays a role in melanocyte differentiation; enhances dendrite outgrowth, melanin content and tyrosinase activity through the modulation of ERK and/or CREB pathways (PubMed:23999003). NA Belongs to the synaptotagmin family. NA PE5 4 +NX_Q58HT5 Acyl-CoA wax alcohol acyltransferase 1 328 37759 9.06 2 Endoplasmic reticulum membrane NA Acyltransferase that catalyzes the formation of ester bonds between fatty alcohols and fatty acyl-CoAs to form wax monoesters (PubMed:15671038). Shows a strong preference for decyl alcohol (C10), with less activity towards C16 and C18 alcohols (PubMed:15671038). Shows a strong preference for saturated acyl-CoAs (PubMed:15671038). NA Belongs to the diacylglycerol acyltransferase family. Arachidonic acid metabolism;Wax biosynthesis PE1 X +NX_Q58WW2 DDB1- and CUL4-associated factor 6 860 96292 5.14 0 Nucleoplasm;Focal adhesion;Nucleus NA Ligand-dependent coactivator of nuclear receptors. Enhance transcriptional activity of the nuclear receptors NR3C1 and AR. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. NA NA Protein modification; protein ubiquitination.;Neddylation PE1 1 +NX_Q59EK9 RUN domain-containing protein 3A 446 49747 5.19 0 Cytoplasmic vesicle NA May act as an effector of RAP2A in neuronal cells. NA Belongs to the RUNDC3 family. NA PE1 17 +NX_Q59GN2 Putative 60S ribosomal protein L39-like 5 51 6323 12.32 0 NA NA NA NA Belongs to the eukaryotic ribosomal protein eL39 family. NA PE5 3 +NX_Q59H18 Serine/threonine-protein kinase TNNI3K 835 92851 6.27 0 Cytoplasm;Nucleus Cardiac conduction disease with or without dilated cardiomyopathy May play a role in cardiac physiology. Autophosphorylated. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. NA PE1 1 +NX_Q5BIV9 Shadow of prion protein 151 14522 11.36 0 Cell membrane NA Prion-like protein that has PrP(C)-like neuroprotective activity. May act as a modulator for the biological actions of normal and abnormal PrP (By similarity). N-glycosylated. Belongs to the SPRN family. Post-translational modification: synthesis of GPI-anchored proteins PE2 10 +NX_Q5BJD5 Transmembrane protein 41B 291 32513 9.6 6 Peroxisome;Endoplasmic reticulum membrane NA Required for normal motor neuron development (By similarity). Required for autophagosome formation (PubMed:30093494). NA Belongs to the TMEM41 family. NA PE1 11 +NX_Q5BJE1 Coiled-coil domain-containing protein 178 867 102011 6.34 0 NA NA NA NA NA NA PE1 18 +NX_Q5BJF2 Sigma intracellular receptor 2 176 20848 9.42 4 Endoplasmic reticulum;Rough endoplasmic reticulum membrane;Nucleus membrane NA Intracellular orphan receptor that binds numerous drugs and which is highly expressed in various proliferating cancer cells (PubMed:28559337). Corresponds to the sigma-2 receptor, which is thought to play important role in regulating cell survival, morphology and differentiation (PubMed:23922215, PubMed:25620095). Under investigation for its potential diagnostic and therapeutic uses (PubMed:23922215, PubMed:25620095). May play a role as a regulator of cellular cholesterol homeostasis (PubMed:19583955). May function as sterol isomerase (PubMed:25566323). May alter the activity of some cytochrome P450 proteins (PubMed:22292588). NA Belongs to the TMEM97/sigma-2 receptor family. NA PE1 17 +NX_Q5BJF6 Outer dense fiber protein 2 829 95401 7.53 0 Centriole;Cilium;Spindle pole;Centrosome;Flagellum NA Seems to be a major component of sperm tail outer dense fibers (ODF). ODFs are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail and may help to maintain the passive elastic structures and elastic recoil of the sperm tail. May have a modulating influence on sperm motility. Functions as a general scaffold protein that is specifically localized at the distal/subdistal appendages of mother centrioles. Component of the centrosome matrix required for the localization of PLK1 and NIN to the centrosomes. Required for the formation and/or maintenance of normal CETN1 assembly. Tyrosine phosphorylated. Phosphorylated by TSSK4 on Ser-95. Belongs to the ODF2 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 9 +NX_Q5BJH2 Transmembrane protein 128 165 18822 6.27 4 Membrane NA NA NA NA NA PE1 4 +NX_Q5BJH7 Protein YIF1B 314 34435 9.21 5 Membrane;Golgi apparatus;Cytoplasmic vesicle NA NA NA Belongs to the YIF1 family. NA PE1 19 +NX_Q5BKT4 Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase 473 55606 9.4 12 Endoplasmic reticulum membrane NA Adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(2)Man(9)GlcNAc(2)-PP-Dol. NA Belongs to the ALG10 glucosyltransferase family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein PE1 12 +NX_Q5BKU9 Oxidoreductase-like domain-containing protein 1 147 15855 8.57 0 Cytoplasmic vesicle;Cytosol NA NA NA NA NA PE1 17 +NX_Q5BKX5 UPF0692 protein C19orf54 351 37779 7.13 0 NA NA NA NA Belongs to the UPF0692 family. NA PE1 19 +NX_Q5BKX6 Solute carrier family 45 member 4 768 83878 5.33 12 Membrane;Cell membrane NA NA NA Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. NA PE1 8 +NX_Q5BKX8 Caveolae-associated protein 4 364 41899 8.29 0 Golgi apparatus;Cytoplasm;Cell membrane;Sarcomere;Nucleoplasm;Caveola;Cytosol;Sarcolemma NA Modulates the morphology of formed caveolae in cardiomyocytes, but is not required for caveolar formation. Facilitates the recruitment of MAPK1/3 to caveolae within cardiomyocytes and regulates alpha-1 adrenergic receptor-induced hypertrophic responses in cardiomyocytes through MAPK1/3 activation. Contributes to proper membrane localization and stabilization of caveolin-3 (CAV3) in cardiomyocytes (By similarity). Induces RHOA activation and activates NPPA transcription and myofibrillar organization through the Rho/ROCK signaling pathway (PubMed:18332105). NA Belongs to the CAVIN family. NA PE1 9 +NX_Q5BKY1 Leucine-rich repeat-containing protein 10 277 31642 8.79 0 Nucleus NA May play important roles in cardiac development and/or cardiac function. NA NA NA PE1 12 +NX_Q5BKY6 Putative uncharacterized protein DKFZp434K191 102 10947 7.82 0 NA NA NA NA NA NA PE1 22 +NX_Q5BKY9 Protein FAM133B 247 28385 10.02 0 Nucleus NA NA NA Belongs to the FAM133 family. NA PE1 7 +NX_Q5BKZ1 DBIRD complex subunit ZNF326 582 65654 5.08 0 Golgi apparatus;Nucleoplasm;Nucleus matrix;Cytoplasmic vesicle NA Core component of the DBIRD complex, a multiprotein complex that acts at the interface between core mRNP particles and RNA polymerase II (RNAPII) and integrates transcript elongation with the regulation of alternative splicing: the DBIRD complex affects local transcript elongation rates and alternative splicing of a large set of exons embedded in (A + T)-rich DNA regions. May play a role in neuronal differentiation and is able to bind DNA and activate expression in vitro. NA Belongs to the AKAP95 family. NA PE1 1 +NX_Q5BLP8 Neuropeptide-like protein C4orf48 95 10170 8.69 0 Cytosol;Secreted NA NA NA NA NA PE1 4 +NX_Q5BN46 UPF0691 protein C9orf116 136 15260 9.06 0 Nucleoplasm;Cytosol NA NA NA Belongs to the UPF0691 family. NA PE1 9 +NX_Q5BVD1 TPA-induced transmembrane protein 217 24295 4.02 1 Endoplasmic reticulum membrane NA NA NA NA NA PE1 3 +NX_Q5C9Z4 Nucleolar MIF4G domain-containing protein 1 860 96257 8.28 0 Nucleolus NA Plays a role in targeting PPP1CA to the nucleolus. NA Belongs to the CWC22 family. NA PE1 7 +NX_Q5CZ79 Ankyrin repeat domain-containing protein 20B 823 93909 8.55 0 NA NA NA NA NA NA PE2 2 +NX_Q5CZA5 Zinc finger protein 805 627 71143 7.83 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q5CZC0 Fibrous sheath-interacting protein 2 6907 780607 6.27 0 Mitochondrion;Cytoskeleton Spermatogenic failure 34 Plays a role in spermatogenesis. NA NA NA PE1 2 +NX_Q5D0E6 DALR anticodon-binding domain-containing protein 3 543 59363 7.07 0 Nucleoplasm;Cytosol;Nucleus NA NA NA NA NA PE1 3 +NX_Q5D1E8 Endoribonuclease ZC3H12A 599 65699 6.5 0 Cytoplasm;Nucleoplasm;P-body;Rough endoplasmic reticulum membrane;Cytosol;Cytoplasmic granule;Nucleus NA (Microbial infection) Exhibits antiviral activity against HIV-1 in lymphocytes by decreasing the abundance of HIV-1 viral RNA species.;(Microbial infection) Binds to Japanese encephalitis virus (JEV) and Dengue virus (DEN) RNAs.;Endoribonuclease involved in various biological functions such as cellular inflammatory response and immune homeostasis, glial differentiation of neuroprogenitor cells, cell death of cardiomyocytes, adipogenesis and angiogenesis. Functions as an endoribonuclease involved in mRNA decay (PubMed:19909337). Modulates the inflammatory response by promoting the degradation of a set of translationally active cytokine-induced inflammation-related mRNAs, such as IL6 and IL12B, during the early phase of inflammation (PubMed:26320658). Prevents aberrant T-cell-mediated immune reaction by degradation of multiple mRNAs controlling T-cell activation, such as those encoding cytokines (IL6 and IL2), cell surface receptors (ICOS, TNFRSF4 and TNFR2) and transcription factor (REL) (By similarity). Inhibits cooperatively with ZC3H12A the differentiation of helper T cells Th17 in lungs. They repress target mRNA encoding the Th17 cell-promoting factors IL6, ICOS, REL, IRF4, NFKBID and NFKBIZ. The cooperation requires RNA-binding by RC3H1 and the nuclease activity of ZC3H12A (By similarity). Self regulates by destabilizing its own mRNA (By similarity). Cleaves mRNA harboring a stem-loop (SL), often located in their 3'-UTRs, during the early phase of inflammation in a helicase UPF1-dependent manner (PubMed:19909337, PubMed:26320658, PubMed:26134560, PubMed:22561375). Plays a role in the inhibition of microRNAs (miRNAs) biogenesis (PubMed:22055188). Cleaves the terminal loop of a set of precursor miRNAs (pre-miRNAs) important for the regulation of the inflammatory response leading to their degradation, and thus preventing the biosynthesis of mature miRNAs (PubMed:22055188). Plays also a role in promoting angiogenesis in response to inflammatory cytokines by inhibiting the production of antiangiogenic microRNAs via its anti-dicer RNase activity (PubMed:24048733). Affects the overall ubiquitination of cellular proteins (By similarity). Positively regulates deubiquitinase activity promoting the cleavage at 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains on TNF receptor-associated factors (TRAFs), preventing JNK and NF-kappa-B signaling pathway activation, and hence negatively regulating macrophage-mediated inflammatory response and immune homeostasis (By similarity). Induces also deubiquitination of the transcription factor HIF1A, probably leading to its stabilization and nuclear import, thereby positively regulating the expression of proangiogenic HIF1A-targeted genes (PubMed:24048733). Involved in a TANK-dependent negative feedback response to attenuate NF-kappaB activation through the deubiquitination of IKBKG or TRAF6 in response to interleukin-1-beta (IL1B) stimulation or upon DNA damage (PubMed:25861989). Prevents stress granule (SGs) formation and promotes macrophage apoptosis under stress conditions, including arsenite-induced oxidative stress, heat shock and energy deprivation (By similarity). Plays a role in the regulation of macrophage polarization; promotes IL4-induced polarization of macrophages M1 into anti-inflammatory M2 state (By similarity). May also act as a transcription factor that regulates the expression of multiple genes involved in inflammatory response, angiogenesis, adipogenesis and apoptosis (PubMed:16574901, PubMed:18364357). Functions as a positive regulator of glial differentiation of neuroprogenitor cells through an amyloid precursor protein (APP)-dependent signaling pathway (PubMed:19185603). Attenuates septic myocardial contractile dysfunction in response to lipopolysaccharide (LPS) by reducing I-kappa-B-kinase (IKK)-mediated NF-kappa-B activation, and hence myocardial proinflammatory cytokine production (By similarity). Proteolytically cleaved between Arg-111 and Arg-214 by MALT1 in activated T-cells; cleavage at Arg-111 is critical for promoting ZC3H12A degradation in response to T-cell receptor (TCR) stimulation, and hence is necessary for prolonging the stability of a set of mRNAs controlling T-cell activation and Th17 cell differentiation.;(Microbial infection) Rapidly degraded in activated T-cells in response to phorbol 13-acetate 12-myristate (PMA) during HIV-1 viral infection (PubMed:24191027).;Ubiquitinated; ubiquitination is induced in response to interleukin IL1 receptor stimuli in a IKBKB/IKKB and IRAK1-dependent manner, leading to proteasome-mediated degradation (By similarity).;Phosphorylated by IRAK1; phosphorylation is necessary for subsequent phosphorylation by the I-kappa-B-kinase (IKK) complex. Phosphorylated by I-kappa-B-kinase (IKK) subunits IKBKB/IKKB and CHUK/IKKA at Ser-438 and Ser-442; these phosphorylations promote ubiquitin proteasome-mediated degradation of ZC3H12A and hence facilitates rapid and robust production of IL-6 mRNA in response to toll-like receptor (TLR) or IL-1 receptor stimuli (By similarity). Belongs to the ZC3H12 family. NA PE1 1 +NX_Q5D862 Filaggrin-2 2391 248073 8.45 0 Cytoplasm;Cytoplasmic granule Peeling skin syndrome 6 Essential for normal cell-cell adhesion in the cornified cell layers (PubMed:29758285). Important for proper integrity and mechanical strength of the stratum corneum of the epidermis (PubMed:29505760). May be processed by calpain-1/CAPN1 in the uppermost epidermal layers.;Deiminated by PADI1, PADI2 or PADI3 in vitro. The deiminated form is degraded by calpain-1/CAPN1 more quickly and into shorter peptides than the intact protein. In the N-terminal section; belongs to the S-100 family.;Belongs to the S100-fused protein family. Neutrophil degranulation PE1 1 +NX_Q5DID0 Uromodulin-like 1 1318 144294 5.75 1 Cytoplasm;Cell membrane NA NA NA NA NA PE2 21 +NX_Q5DJT8 Cancer/testis antigen family 45 member A2 189 21363 9.67 0 NA NA NA NA Belongs to the CT45 family. NA PE2 X +NX_Q5DT21 Serine protease inhibitor Kazal-type 9 86 9756 9.17 0 Nucleoplasm;Secreted;Cytoplasmic vesicle NA Serine protease inhibitor which specifically inhibits KLK5. May contribute to the regulation of the desquamation process in skin by inhibiting KLK5. NA NA Formation of the cornified envelope PE1 5 +NX_Q5DX21 Immunoglobulin superfamily member 11 431 46120 6.63 1 Nucleoplasm;Cytosol;Cell junction;Cell membrane NA Functions as a cell adhesion molecule through homophilic interaction. Stimulates cell growth. N-glycosylated. NA NA PE1 3 +NX_Q5EB52 Mesoderm-specific transcript homolog protein 335 38830 9.75 3 Golgi apparatus;Cytosol;Endoplasmic reticulum membrane NA NA NA Belongs to the AB hydrolase superfamily. NA PE1 7 +NX_Q5EBL2 Zinc finger protein 628 1059 110887 8.69 0 Nucleoplasm;Nucleus NA Transcription activator. Binds DNA on GT-box consensus sequence 5'-TTGGTT-3' (By similarity). NA NA NA PE1 19 +NX_Q5EBL4 RILP-like protein 1 403 47108 5.13 0 Centriole;Cell membrane;Cilium basal body;Nucleoplasm;Cytosol NA Plays a role in the regulation of cell shape and polarity (By similarity). Plays a role in cellular protein transport, including protein transport away from primary cilia (By similarity). Neuroprotective protein, which acts by sequestring GAPDH in the cytosol and prevent the apoptotic function of GAPDH in the nucleus (By similarity). Competes with SIAH1 for binding GAPDH (By similarity). Does not regulate lysosomal morphology and distribution (PubMed:14668488). Binds to RAB10 following LRRK2-mediated RAB10 phosphorylation which leads to inhibition of ciliogenesis (PubMed:30398148). S-nitrosylation is required for the interaction with GAPDH. Belongs to the RILPL family. NA PE1 12 +NX_Q5EBL8 PDZ domain-containing protein 11 140 16131 6.65 0 Cytoplasm;Cell membrane;Adherens junction;Secreted;Nucleus NA Mediates docking of ADAM10 to zonula adherens by interacting with PLEKHA7 which is required for PLEKHA7 to interact with the ADAM10-binding protein TSPAN33. NA NA Ion transport by P-type ATPases;Biotin transport and metabolism;Vitamin B5 (pantothenate) metabolism;Transport of vitamins, nucleosides, and related molecules;Ion influx/efflux at host-pathogen interface PE1 X +NX_Q5EBM0 UMP-CMP kinase 2, mitochondrial 449 49448 6.57 0 Mitochondrion NA May participate in dUTP and dCTP synthesis in mitochondria. Is able to phosphorylate dUMP, dCMP, CMP, UMP and monophosphates of the pyrimidine nucleoside analogs ddC, dFdC, araC, BVDU and FdUrd with ATP as phosphate donor. Efficacy is highest for dUMP followed by dCMP; CMP and UMP are poor substrates. May be involved in mtDNA depletion caused by long term treatment with ddC or other pyrimidine analogs. Also displays broad nucleoside diphosphate kinase activity. NA Belongs to the thymidylate kinase family. Pyrimidine metabolism;Metabolic pathways PE1 2 +NX_Q5EBM4 Putative zinc finger protein 542 170 19729 9.47 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE5 19 +NX_Q5EBN2 Putative tripartite motif-containing protein 61 209 24047 8.83 0 Endoplasmic reticulum;Nucleolus NA NA NA NA NA PE2 4 +NX_Q5EE01 Centromere protein W 88 10061 11.29 0 Kinetochore;Nucleus matrix;Nucleolus;Nucleoplasm;Centromere;Nucleus NA Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation (By similarity). The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres (By similarity). Part of a nucleosome-associated complex that binds specifically to histone H3-containing nucleosomes at the centromere, as opposed to nucleosomes containing CENPA. Component of the heterotetrameric CENP-T-W-S-X complex that binds and supercoils DNA, and plays an important role in kinetochore assembly. CENPW has a fundamental role in kinetochore assembly and function. It is one of the inner kinetochore proteins, with most further proteins binding downstream. Required for normal chromosome organization and normal progress through mitosis. NA Belongs to the CENP-W/WIP1 family. Deposition of new CENPA-containing nucleosomes at the centromere PE1 6 +NX_Q5EG05 Caspase recruitment domain-containing protein 16 197 22625 8.72 0 Mitochondrion NA Caspase inhibitor. Acts as a regulator of procaspase-1/CASP1 activation implicated in the regulation of the proteolytic maturation of pro-interleukin-1 beta (IL1B) and its release during inflammation. Inhibits the release of IL1B in response to LPS in monocytes. Also induces NF-kappa-B activation during the pro-inflammatory cytokine response. Also able to inhibit CASP1-mediated neuronal cell death, TNF-alpha, hypoxia-, UV-, and staurosporine-mediated cell death but not ER stress-mediated cell death. Acts by preventing activation of caspases CASP1 and CASP4, possibly by preventing the interaction between CASP1 and RIPK2. NA NA NA PE1 11 +NX_Q5F1R6 DnaJ homolog subfamily C member 21 531 62028 5.34 0 Cytoplasm;Nucleolus;Nucleus;Cytoplasmic vesicle Bone marrow failure syndrome 3 May act as a co-chaperone for HSP70. May play a role in ribosomal RNA (rRNA) biogenesis, possibly in the maturation of the 60S subunit. Binds the precursor 45S rRNA. NA NA NA PE1 5 +NX_Q5FBB7 Shugoshin 1 561 64190 9.27 0 Kinetochore;Nucleoplasm;Spindle pole;Centromere;Centrosome;Cytosol;Nucleus Chronic atrial and intestinal dysrhythmia Plays a role in maintaining centriole cohesion involved in controlling spindle pole integrity. Involved in centromeric enrichment of AUKRB in prometaphase.;Plays a central role in chromosome cohesion during mitosis by preventing premature dissociation of cohesin complex from centromeres after prophase, when most of cohesin complex dissociates from chromosomes arms. May act by preventing phosphorylation of the STAG2 subunit of cohesin complex at the centromere, ensuring cohesin persistence at centromere until cohesin cleavage by ESPL1/separase at anaphase. Essential for proper chromosome segregation during mitosis and this function requires interaction with PPP2R1A. Its phosphorylated form is necessary for chromosome congression and for the proper attachment of spindle microtubule to the kinetochore. Necessary for kinetochore localization of PLK1 and CENPF. May play a role in the tension sensing mechanism of the spindle-assembly checkpoint by regulating PLK1 kinetochore affinity. Ubiquitinated and degraded during mitotic exit by APC/C-Cdh1.;Phosphorylation by NEK2 is essential for chromosome congression in mitosis and for the proper attachment of spindle microtubule to the kinetochore. Phosphorylated by PLK1 and AUKRB. Belongs to the shugoshin family. Oocyte meiosis;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 3 +NX_Q5FVE4 Long-chain-fatty-acid--CoA ligase ACSBG2 666 74354 8.67 0 Membrane;Cytoplasm;Cytosol NA Catalyzes the conversion of fatty acids such as long chain and very long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation. Can activate diverse saturated, monosaturated and polyunsaturated fatty acids (PubMed:16371355, PubMed:16762313). Has increased ability to activate oleic and linoleic acid (PubMed:16371355). May play a role in spermatogenesis (PubMed:15685348). NA Belongs to the ATP-dependent AMP-binding enzyme family. Bubblegum subfamily. Fatty acid metabolism;Metabolic pathways;PPAR signaling pathway;Adipocytokine signaling pathway;Synthesis of very long-chain fatty acyl-CoAs PE1 19 +NX_Q5FWE3 Proline-rich transmembrane protein 3 981 102197 7.7 7 Membrane;Nucleoplasm;Cytosol;Cell membrane NA NA NA NA NA PE1 3 +NX_Q5FWF4 DNA annealing helicase and endonuclease ZRANB3 1079 123248 8.74 0 Nucleoplasm;Nucleus;Chromosome NA DNA annealing helicase and endonuclease required to maintain genome stability at stalled or collapsed replication forks by facilitating fork restart and limiting inappropriate recombination that could occur during template switching events (PubMed:21078962, PubMed:22704558, PubMed:22705370, PubMed:22759634, PubMed:26884333). Recruited to the sites of stalled DNA replication by polyubiquitinated PCNA and acts as a structure-specific endonuclease that cleaves the replication fork D-loop intermediate, generating an accessible 3'-OH group in the template of the leading strand, which is amenable to extension by DNA polymerase (PubMed:22759634). In addition to endonuclease activity, also catalyzes the fork regression via annealing helicase activity in order to prevent disintegration of the replication fork and the formation of double-strand breaks (PubMed:22705370, PubMed:22704558). NA Belongs to the SNF2/RAD54 helicase family. NA PE1 2 +NX_Q5FWF5 N-acetyltransferase ESCO1 840 94983 9.27 0 Nucleus;Chromosome NA Acetyltransferase required for the establishment of sister chromatid cohesion (PubMed:15958495, PubMed:18614053). Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during S phase. Acts by mediating the acetylation of cohesin component SMC3 (PubMed:18614053). Phosphorylated during mitosis, when associated with chromosomes. Belongs to the acetyltransferase family. ECO subfamily. Establishment of Sister Chromatid Cohesion PE1 18 +NX_Q5FWF6 Zinc finger protein 789 425 49984 9.3 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 7 +NX_Q5FWF7 F-box only protein 48 155 18241 6.9 0 Nucleus NA NA NA NA NA PE1 2 +NX_Q5FYA8 Arylsulfatase H 562 63525 8.48 2 Membrane NA NA The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. Belongs to the sulfatase family. Glycosphingolipid metabolism;The activation of arylsulfatases PE2 X +NX_Q5FYB0 Arylsulfatase J 599 67235 9.15 0 Secreted;Cytoskeleton NA NA The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. Belongs to the sulfatase family. Glycosphingolipid metabolism;The activation of arylsulfatases PE1 4 +NX_Q5FYB1 Arylsulfatase I 569 64030 8.82 0 Golgi apparatus;Endoplasmic reticulum;Secreted NA Displays arylsulfatase activity at neutral pH, when co-expressed with SUMF1; arylsulfatase activity is measured in the secretion medium of retinal cell line, but no activity is recorded when measured in cell extracts. The oxidation of Cys-93 residue to 3-oxoalanine (also known as C(alpha)-formylglycine) by SUMF1/Sulfatase-modifying factor 1, seems critical for catalytic activity. Belongs to the sulfatase family. Glycosphingolipid metabolism;The activation of arylsulfatases PE1 5 +NX_Q5GAN3 Probable inactive ribonuclease-like protein 13 156 17845 8.87 0 Secreted NA Does not exhibit any ribonuclease activity. NA Belongs to the pancreatic ribonuclease family. NA PE1 14 +NX_Q5GAN4 Probable inactive ribonuclease-like protein 12 147 17177 6.64 0 Secreted NA Does not exhibit any ribonuclease activity. NA Belongs to the pancreatic ribonuclease family. NA PE2 14 +NX_Q5GAN6 Inactive ribonuclease-like protein 10 216 24008 4.86 0 Secreted NA Secreted proximal epididymal protein required for post-testicular sperm maturation and male fertility. May be involved in sperm adhesion to the egg zona pellucida. Does not have ribonuclease activity (By similarity). The N-terminus is blocked. Glycosylated (By similarity). Belongs to the pancreatic ribonuclease family. NA PE2 14 +NX_Q5GFL6 von Willebrand factor A domain-containing protein 2 755 82012 8.38 0 Secreted NA NA A 55 kDa form is produced by proteolytic cleavage. NA NA PE1 10 +NX_Q5GH70 XK-related protein 9 373 43406 8.55 8 Membrane;Mitochondrion NA NA NA Belongs to the XK family. NA PE1 8 +NX_Q5GH72 XK-related protein 7 579 63826 9.22 7 Membrane NA NA NA Belongs to the XK family. NA PE1 20 +NX_Q5GH73 XK-related protein 6 641 71638 8.19 7 Membrane;Cytoskeleton NA NA NA Belongs to the XK family. NA PE1 8 +NX_Q5GH76 XK-related protein 4 650 71501 8.08 10 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the XK family. NA PE1 8 +NX_Q5GH77 XK-related protein 3 459 53448 9.13 10 Cell membrane NA NA NA Belongs to the XK family. NA PE1 22 +NX_Q5GJ75 Tumor necrosis factor alpha-induced protein 8-like protein 3 292 32659 8.75 0 Nucleoplasm;Cytosol;Cytoplasm;Cell membrane NA Acts as a lipid transfer protein. Preferentially captures and shuttles two lipid second messengers, i.e., phosphatidylinositol 4,5- bisphosphate and phosphatidylinositol 3,4,5-trisphosphate and increases their levels in the plasma membrane. Additionally, may also function as a lipid-presenting protein to enhance the activity of the PI3K-AKT and MEK-ERK pathways. May act as a regulator of tumorigenesis through its activation of phospholipid signaling. NA Belongs to the TNFAIP8 family. PI Metabolism PE1 15 +NX_Q5GLZ8 Probable E3 ubiquitin-protein ligase HERC4 1057 118563 5.8 0 Cytosol;Nucleolus NA Probable E3 ubiquitin-protein ligase involved in either protein trafficking or in the distribution of cellular structures. Required for spermatozoon maturation and fertility, and for the removal of the cytoplasmic droplet of the spermatozoon. E3 ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer it to targeted substrates. NA NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation PE1 10 +NX_Q5H8A3 Neuromedin-S 153 17731 9.76 0 Secreted NA Implicated in the regulation of circadian rhythms through autocrine and/or paracrine actions. NA Belongs to the NmU family. G alpha (i) signalling events;Peptide ligand-binding receptors;G alpha (q) signalling events PE2 2 +NX_Q5H8A4 GPI ethanolamine phosphate transferase 2 983 108173 6.7 12 Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum membrane Mental retardation, autosomal recessive 53 Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI second mannose. NA Belongs to the PIGG/PIGN/PIGO family. PIGG subfamily. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Synthesis of glycosylphosphatidylinositol (GPI) PE1 4 +NX_Q5H8C1 FRAS1-related extracellular matrix protein 1 2179 244154 5.55 0 Basement membrane Manitoba oculotrichoanal syndrome;Trigonocephaly 2;Bifid nose, with or without anorectal and renal anomalies Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development. NA Belongs to the FRAS1 family. NA PE1 9 +NX_Q5H913 ADP-ribosylation factor-like protein 13A 290 33003 9.24 0 NA NA NA NA Belongs to the small GTPase superfamily. Arf family. NA PE1 X +NX_Q5H943 Kita-kyushu lung cancer antigen 1 113 12784 10.2 1 Cell membrane NA NA NA NA NA PE1 X +NX_Q5H9B9 Putative BMP-2-inducible kinase-like protein 411 46091 5.4 0 NA NA NA NA NA NA PE5 X +NX_Q5H9E4 Solute carrier family 25 member 53 307 34481 9.86 6 Mitochondrion inner membrane NA NA NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 X +NX_Q5H9F3 BCL-6 corepressor-like protein 1 1711 182526 6.9 0 Nucleoplasm;Nucleus;Cell membrane Shukla-Vernon syndrome Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. NA Belongs to the BCOR family. NA PE1 X +NX_Q5H9I0 Transcription factor Dp family member 3 405 44967 5.91 0 Cytoplasm;Nucleus NA Competitive inhibitor of E2F-mediated transactivation activity. Impairs E2F-mediated cell-cycle progression from G(1) to S phase. NA Belongs to the E2F/DP family. NA PE1 X +NX_Q5H9J7 Protein BEX5 111 12602 4.73 0 Cytoplasm NA NA Ubiquitinated (Probable). Degraded by the proteasome. Belongs to the BEX family. NA PE1 X +NX_Q5H9J9 T-complex protein 11 X-linked protein 2 407 46373 5.07 0 NA NA NA NA Belongs to the TCP11 family. NA PE2 X +NX_Q5H9K5 Zinc finger matrin-type protein 1 638 74755 8.65 0 Nucleoplasm;Nucleus NA NA NA NA NA PE2 X +NX_Q5H9L2 Transcription elongation factor A protein-like 5 206 23307 4.74 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the TFS-II family. TFA subfamily. NA PE1 X +NX_Q5H9L4 Transcription initiation factor TFIID subunit 7-like 462 52588 4.55 0 Nucleoplasm;Cytoplasm;Nucleus NA Probably functions as a spermatogenesis-specific component of the DNA-binding general transcription factor complex TFIID, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. May play a role in spermatogenesis (By similarity). NA Belongs to the TAF7 family. Basal transcription factors;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;Regulation of TP53 Activity through Phosphorylation PE1 X +NX_Q5H9M0 PWWP domain-containing DNA repair factor 3B 696 79040 4.88 0 NA NA NA NA Belongs to the PWWP3A family. NA PE1 X +NX_Q5H9R4 Armadillo repeat-containing X-linked protein 4 2290 235964 5.65 1 Membrane;Nucleoplasm;Cytoplasmic vesicle NA NA NA Belongs to the eutherian X-chromosome-specific Armcx family. NA PE1 X +NX_Q5H9R7 Serine/threonine-protein phosphatase 6 regulatory subunit 3 873 97669 4.5 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. May have an important role in maintaining immune self-tolerance. NA Belongs to the SAPS family. COPII-mediated vesicle transport PE1 11 +NX_Q5H9S7 DDB1- and CUL4-associated factor 17 520 58778 6.58 2 Membrane;Nucleoplasm;Nucleolus Woodhouse-Sakati syndrome May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. NA NA Protein modification; protein ubiquitination.;Neddylation PE1 2 +NX_Q5H9T9 Fibrous sheath CABYR-binding protein 825 87956 4.22 0 Cytoplasm;Flagellum NA May be involved in the later stages of fibrous sheath biogenesis and spermatozoa capacitation. Inhibits ROPN1 and ROPN1L SUMOylation. Binds calcium. Phosphorylated by PKA upon spermatozoa capacitation conditions. NA NA PE1 14 +NX_Q5H9U9 Probable ATP-dependent RNA helicase DDX60-like 1706 197674 8.57 0 Cytosol;Cell membrane NA NA NA Belongs to the helicase family. NA PE1 4 +NX_Q5HY64 Putative protein FAM47C 1035 115338 6.74 0 NA NA NA NA Belongs to the FAM47 family. NA PE1 X +NX_Q5HY92 Fidgetin 759 82146 6.24 0 Cell membrane;Nucleus matrix;Cell junction;Nucleoplasm;Centrosome;Cytoplasmic vesicle;Cytosol NA ATP-dependent microtubule severing protein. Severs microtubules along their length and depolymerizes their ends, primarily the minus-end, that may lead to the suppression of microtubule growth from and attachment to centrosomes. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. NA Belongs to the AAA ATPase family. NA PE1 2 +NX_Q5HY98 Zinc finger protein 766 468 54507 9.55 0 Centrosome;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q5HYA8 Meckelin 995 111745 6.34 6 Endoplasmic reticulum membrane;Cilium;Cilium basal body;Cell membrane Joubert syndrome 6;Meckel syndrome 3;RHYNS syndrome;Nephronophthisis 11;Bardet-Biedl syndrome 14;COACH syndrome Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC). NA NA Anchoring of the basal body to the plasma membrane PE1 8 +NX_Q5HYC2 Uncharacterized protein KIAA2026 2103 228087 9.18 0 Nucleoplasm;Cytosol;Cytoplasmic vesicle NA NA NA NA NA PE1 9 +NX_Q5HYI7 Metaxin-3 312 35093 7.64 0 Mitochondrion outer membrane;Mitochondrion NA Could function in transport of proteins into the mitochondrion. NA Belongs to the metaxin family. NA PE1 5 +NX_Q5HYI8 Rab-like protein 3 236 26423 6.6 0 Nucleoplasm NA NA NA Belongs to the small GTPase superfamily. Rab family. NA PE1 3 +NX_Q5HYJ1 Trans-2,3-enoyl-CoA reductase-like 363 42009 9.63 3 Membrane;Endoplasmic reticulum Ventricular tachycardia, catecholaminergic polymorphic, 3 NA NA Belongs to the steroid 5-alpha reductase family. Synthesis of very long-chain fatty acyl-CoAs PE1 4 +NX_Q5HYJ3 Protein FAM76B 339 38708 9.38 0 Nucleoplasm;Nucleolus;Nucleus speckle;Nucleus NA NA NA Belongs to the FAM76 family. NA PE1 11 +NX_Q5HYK3 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial 327 37140 6.47 0 Mitochondrion inner membrane;Mitochondrion;Nucleolus NA Methyltransferase required for the conversion of 2-polyprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2). NA Belongs to the class I-like SAM-binding methyltransferase superfamily. MenG/UbiE family. Cofactor biosynthesis; ubiquinone biosynthesis.;Ubiquinone and other terpenoid-quinone biosynthesis;Metabolic pathways;Ubiquinol biosynthesis PE1 12 +NX_Q5HYK7 SH3 domain-containing protein 19 790 86525 8.54 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA May play a role in regulating A disintegrin and metalloproteases (ADAMs) in the signaling of EGFR-ligand shedding. May be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1. Plays a role in the regulation of cell morphology and cytoskeletal organization. NA NA Golgi Associated Vesicle Biogenesis PE1 4 +NX_Q5HYK9 Zinc finger protein 667 610 70161 9.79 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q5HYL7 Transmembrane protein 196 178 19025 8.52 4 Membrane;Golgi apparatus;Nucleoplasm NA NA NA NA NA PE2 7 +NX_Q5HYM0 Probable ribonuclease ZC3H12B 836 94205 7.6 0 Endoplasmic reticulum;Golgi apparatus;Cytoplasmic vesicle NA May function as RNase and regulate the levels of target RNA species. NA Belongs to the ZC3H12 family. NA PE2 X +NX_Q5HYN5 Cancer/testis antigen family 45 member A1 189 21273 9.85 0 NA NA NA NA Belongs to the CT45 family. NA PE2 X +NX_Q5HYR2 Doublesex- and mab-3-related transcription factor C1 192 20139 6.5 0 NA NA NA NA Belongs to the DMRT family. NA PE2 X +NX_Q5HYW2 NHS-like protein 2 1225 133286 7.66 0 Cell junction;Cell membrane NA NA NA Belongs to the NHS family. NA PE1 X +NX_Q5HYW3 Retrotransposon Gag-like protein 5 569 64711 4.71 0 Nucleoplasm NA NA NA NA NA PE1 X +NX_Q5I0G3 Putative malate dehydrogenase 1B 518 58651 5.85 0 NA NA NA NA Belongs to the LDH/MDH superfamily. MDH type 2 family. NA PE1 2 +NX_Q5I0X4 Uncharacterized protein C6orf226 101 10566 8.02 0 Nucleus speckle NA NA NA NA NA PE1 6 +NX_Q5I0X7 Tetratricopeptide repeat protein 32 151 17296 4.86 0 Nucleoplasm;Mitochondrion NA NA NA NA NA PE1 2 +NX_Q5I7T1 Putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase 473 55448 9.33 12 Cell membrane NA Putative alpha-1,2-glucosyltransferase, which adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(2)Man(9)GlcNAc(2)-PP-Dol (By similarity). When coupled to KCNH2 may reduce KCNH2 sensitivity to classic proarrhythmic drug blockade, possibly by mediating glycosylation of KCNH2 (PubMed:14525949). Has a role in maintenance of cochlear outer hair cell function (By similarity). NA Belongs to the ALG10 glucosyltransferase family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein PE1 12 +NX_Q5IJ48 Protein crumbs homolog 2 1285 134265 5.31 1 Apical cell membrane;Secreted Focal segmental glomerulosclerosis 9;Ventriculomegaly with cystic kidney disease Apical polarity protein that plays a central role during the epithelial-to-mesenchymal transition (EMT) at gastrulation, when newly specified mesodermal cells move inside the embryo. Acts by promoting cell ingression, the process by which cells leave the epithelial epiblast and move inside the embryo to form a new tissue layer. The anisotropic distribution of CRB2 and MYH10/myosin-IIB at cell edges define which cells will ingress: cells with high apical CRB2 are probably extruded from the epiblast by neighboring cells with high levels of apical MYH10/myosin-IIB. Also required for maintenance of the apical polarity complex during development of the cortex. O-glucosylated by POGLUT1 at Ser-267; consists of an O-glucose trisaccharide, in which the O-glucose is elongated by the addition of two xylose residues. O-glucosylation is required for localization at the plasma membrane. Belongs to the Crumbs protein family. NA PE1 9 +NX_Q5J5C9 Beta-defensin 121 76 8456 8.99 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE1 20 +NX_Q5J8M3 ER membrane protein complex subunit 4 183 20087 8.84 2 Membrane;Focal adhesion NA May mediate anti-apoptotic activity. NA Belongs to the EMC4 family. NA PE1 15 +NX_Q5J8X5 Membrane-spanning 4-domains subfamily A member 13 152 17307 8.82 4 Membrane NA May be involved in signal transduction as a component of a multimeric receptor complex. NA Belongs to the MS4A family. NA PE2 11 +NX_Q5JNZ3 Zinc finger protein 311 666 76322 9.03 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 6 +NX_Q5JNZ5 Putative 40S ribosomal protein S26-like 1 115 13002 10.55 0 NA NA NA NA Belongs to the eukaryotic ribosomal protein eS26 family. NA PE5 X +NX_Q5JPB2 Zinc finger protein 831 1677 177949 8.67 0 NA NA NA NA NA NA PE1 20 +NX_Q5JPE7 Nodal modulator 2 1267 139439 5.5 1 Endoplasmic reticulum membrane NA May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning, via its interaction with NCLN. NA NA NA PE1 16 +NX_Q5JPF3 Ankyrin repeat domain-containing protein 36C 1778 199748 8.02 0 NA NA NA NA Belongs to the ANKRD36 family. NA PE1 2 +NX_Q5JPH6 Probable glutamate--tRNA ligase, mitochondrial 523 58689 8.97 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion Combined oxidative phosphorylation deficiency 12 Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu). NA Belongs to the class-I aminoacyl-tRNA synthetase family. Glutamate--tRNA ligase type 1 subfamily. Porphyrin and chlorophyll metabolism;Aminoacyl-tRNA biosynthesis;Metabolic pathways;Mitochondrial tRNA aminoacylation PE1 16 +NX_Q5JPI3 Uncharacterized protein C3orf38 329 37541 6.01 0 Nucleoplasm;Cytosol;Cell membrane NA May be involved in apoptosis regulation. NA NA NA PE1 3 +NX_Q5JPI9 EEF1A lysine methyltransferase 2 291 31830 5.77 0 Nucleoplasm;Cytoplasm;Nucleus NA Protein-lysine methyltransferase that selectively catalyzes the trimethylation of EEF1A at 'Lys-318'. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. EFM4 family. Protein methylation PE1 10 +NX_Q5JQC4 Cancer/testis antigen 47A 288 30100 4.2 0 NA NA NA NA NA NA PE1 X +NX_Q5JQC9 A-kinase anchor protein 4 854 94477 6.56 0 Flagellum NA Major structural component of sperm fibrous sheath. Plays a role in sperm motility. NA Belongs to the AKAP110 family. NA PE1 X +NX_Q5JQD4 Putative peptide YY-3 70 7832 4.43 0 Secreted NA NA NA Belongs to the NPY family. NA PE5 X +NX_Q5JQF7 Putative uncharacterized protein encoded by LINC01556 62 7289 11.22 0 NA NA NA NA NA NA PE4 6 +NX_Q5JQF8 Polyadenylate-binding protein 1-like 2 200 22799 9.18 0 NA NA NA NA NA RNA transport;mRNA surveillance pathway;RNA degradation;RNA transport;mRNA surveillance pathway;RNA degradation PE1 X +NX_Q5JQS5 Olfactory receptor 2B11 317 35342 9.12 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q5JQS6 Germinal center-associated signaling and motility-like protein 135 15712 6.22 0 Cytosol NA NA NA NA NA PE1 1 +NX_Q5JR12 Protein phosphatase 1J 505 54834 7.19 0 Cytoplasmic vesicle NA NA NA Belongs to the PP2C family. NA PE1 1 +NX_Q5JR59 Microtubule-associated tumor suppressor candidate 2 1369 150195 6.23 0 Cytoskeleton NA Binds microtubules. Together with MAPRE1 may target the microtubule depolymerase KIF2C to the plus-end of microtubules. May regulate the dynamics of microtubules at their growing distal tip. NA In the C-terminal section; belongs to the MTUS1 family. NA PE1 13 +NX_Q5JR98 Tctex1 domain-containing protein 4 221 23353 9.87 0 NA NA NA NA Belongs to the dynein light chain Tctex-type family. NA PE1 1 +NX_Q5JRA6 Transport and Golgi organization protein 1 homolog 1907 213702 4.76 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. This protein is required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. It may participate in cargo loading of COL7A1 at endoplasmic reticulum exit sites by binding to COPII coat subunits Sec23/24 and guiding SH3-bound COL7A1 into a growing carrier. Does not play a role in global protein secretion and is apparently specific to COL7A1 cargo loading. However, it may participate in secretion of other proteins in cells that do not secrete COL7A1. It is also specifically required for the secretion of lipoproteins by participating in their export from the endoplasmic reticulum (PubMed:27138255, PubMed:19269366). Required for correct assembly of COPII coat components at endoplasmic reticulum exit sites (ERES) and for the localization of SEC16A and membrane-bound ER-resident complexes consisting of MIA2 and PREB/SEC12 to ERES (PubMed:28442536). NA Belongs to the MIA/OTOR family. Tango1 subfamily. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Cargo concentration in the ER;Post-translational protein phosphorylation PE1 1 +NX_Q5JRC9 Protein FAM47A 791 90592 9.24 0 NA NA NA NA Belongs to the FAM47 family. NA PE1 X +NX_Q5JRK9 Putative G antigen family E member 3 111 12041 4.06 0 NA NA NA NA Belongs to the GAGE family. NA PE1 X +NX_Q5JRM2 Uncharacterized protein CXorf66 361 39944 9.59 1 Membrane NA NA NA NA NA PE1 X +NX_Q5JRS4 Olfactory receptor 10J3 329 36549 8.66 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q5JRV8 Transmembrane protein 255A 349 38449 8.23 4 Membrane;Nucleoplasm;Nucleus NA NA NA Belongs to the TMEM255 family. NA PE2 X +NX_Q5JRX3 Presequence protease, mitochondrial 1037 117413 6.45 0 Mitochondrion matrix;Mitochondrion NA Metalloendopeptidase of the mitochondrial matrix that functions in peptide cleavage and degradation rather than in protein processing (PubMed:10360838, PubMed:16849325, PubMed:19196155, PubMed:24931469). Has an ATP-independent activity (PubMed:16849325). Specifically cleaves peptides in the range of 5 to 65 residues (PubMed:19196155). Shows a preference for cleavage after small polar residues and before basic residues, but without any positional preference (PubMed:10360838, PubMed:19196155, PubMed:24931469). Degrades the transit peptides of mitochondrial proteins after their cleavage (PubMed:19196155). Also degrades other unstructured peptides (PubMed:19196155). It is also able to degrade amyloid-beta protein 40, one of the peptides produced by APP processing, when it accumulates in mitochondrion (PubMed:16849325, PubMed:24931469). It is a highly efficient protease, at least toward amyloid-beta protein 40 (PubMed:24931469). Cleaves that peptide at a specific position and is probably not processive, releasing digested peptides intermediates that can be further cleaved subsequently (PubMed:24931469). A disulfide bond locks the enzyme in the closed conformation preventing substrate entry into the catalytic chamber. Belongs to the peptidase M16 family. PreP subfamily. Mitochondrial protein import PE1 10 +NX_Q5JS13 Ras-specific guanine nucleotide-releasing factor RalGPS1 557 62133 9.21 0 Cytoplasm;Cell membrane NA Guanine nucleotide exchange factor (GEF) for the small GTPase RALA. May be involved in cytoskeletal organization (By similarity). Guanine nucleotide exchange factor for. NA NA NA PE1 9 +NX_Q5JS37 NHL repeat-containing protein 3 347 38283 5.98 0 Secreted NA NA NA NA Neutrophil degranulation PE1 13 +NX_Q5JS54 Proteasome assembly chaperone 4 123 13775 6.04 0 Nucleoplasm;Cytoplasm;Mitochondrion NA Chaperone protein which promotes assembly of the 20S proteasome. NA Belongs to the PSMG4 family. NA PE1 6 +NX_Q5JSH3 WD repeat-containing protein 44 913 101366 5.29 0 trans-Golgi network;Golgi apparatus;Endosome membrane;Cytosol;Perinuclear region NA Downstream effector for RAB11. May be involved in vesicle recycling (By similarity). WDR44 is phosphorylated by PASK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA NA PE1 X +NX_Q5JSJ4 Integrator complex subunit 6-like 861 96673 8.89 0 Mitochondrion;Centrosome;Nucleus NA NA NA NA NA PE1 X +NX_Q5JSL3 Dedicator of cytokinesis protein 11 2073 237671 7.87 0 Nucleus membrane;Nucleolus NA Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP. Required for marginal zone (MZ) B-cell development, is associated with early bone marrow B-cell development, MZ B-cell formation, MZ B-cell number and marginal metallophilic macrophages morphology. Facilitates filopodia formation through the activation of CDC42. NA Belongs to the DOCK family. Factors involved in megakaryocyte development and platelet production PE1 X +NX_Q5JSP0 FYVE, RhoGEF and PH domain-containing protein 3 725 79401 5.78 0 Nucleoplasm;Cytosol;Cytoplasm;Cytoskeleton NA Promotes the formation of filopodia. May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape (By similarity). NA NA Regulation of actin cytoskeleton;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 9 +NX_Q5JSQ8 Putative KHDC1-like protein 128 14546 5.41 0 NA NA NA NA Belongs to the KHDC1 family. NA PE5 6 +NX_Q5JSS6 Meiosis expressed gene 1 protein homolog 88 10795 9.14 0 NA NA Essential for spermiogenesis. NA Belongs to the MEIG1 family. NA PE1 10 +NX_Q5JST6 EF-hand domain-containing family member C2 749 87397 7.14 0 Nucleoplasm;Nucleolus;Cell membrane NA NA NA NA NA PE1 X +NX_Q5JSZ5 Protein PRRC2B 2229 242967 8.55 0 Cytosol;Nucleus NA NA NA NA NA PE1 9 +NX_Q5JT25 Ras-related protein Rab-41 222 25038 5.14 0 Cytoplasm NA Required for normal Golgi ribbon organization and ER-to-Golgi trafficking. NA Belongs to the small GTPase superfamily. Rab family. Intra-Golgi traffic;RAB geranylgeranylation PE1 X +NX_Q5JT78 Putative uncharacterized protein C1orf137 98 10987 7.65 0 NA NA NA NA NA NA PE4 1 +NX_Q5JT82 Krueppel-like factor 17 389 42577 6.27 0 Nucleus NA Transcription repressor that binds to the promoter of target genes and prevents their expression. Acts as a negative regulator of epithelial-mesenchymal transition and metastasis in breast cancer. Specifically binds the 5'-CACCC-3' sequence in the promoter of ID1, a key metastasis regulator in breast cancer, and repress its expression. May be a germ cell-specific transcription factor that plays important roles in spermatid differentiation and oocyte development (By similarity). NA Belongs to the Sp1 C2H2-type zinc-finger protein family. NA PE1 1 +NX_Q5JTB6 Placenta-specific protein 9 97 10309 4.8 0 Secreted NA NA NA Belongs to the PLAC9 family. NA PE1 10 +NX_Q5JTC6 APC membrane recruitment protein 1 1135 124029 4.77 0 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cell membrane Osteopathia striata with cranial sclerosis Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signaling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation. Also acts as a negative regulator by acting as a scaffold protein for the beta-catenin destruction complex and promoting stabilization of Axin at the cell membrane. Promotes CTNNB1 ubiquitination and degradation. Involved in kidney development. NA Belongs to the Amer family. Degradation of beta-catenin by the destruction complex;Disassembly of the destruction complex and recruitment of AXIN to the membrane;Beta-catenin phosphorylation cascade;Misspliced GSK3beta mutants stabilize beta-catenin;S33 mutants of beta-catenin aren't phosphorylated;S37 mutants of beta-catenin aren't phosphorylated;S45 mutants of beta-catenin aren't phosphorylated;T41 mutants of beta-catenin aren't phosphorylated;APC truncation mutants have impaired AXIN binding;AXIN missense mutants destabilize the destruction complex;Truncations of AMER1 destabilize the destruction complex PE1 X +NX_Q5JTD0 Tight junction-associated protein 1 557 61821 5.67 0 Golgi apparatus;Tight junction NA NA NA NA Tight junction PE1 6 +NX_Q5JTD7 Leucine-rich repeat-containing protein 73 316 33409 4.73 0 Cytosol NA NA NA NA NA PE1 6 +NX_Q5JTH9 RRP12-like protein 1297 143702 8.97 1 Cell membrane;Nucleus membrane;Nucleolus;Cytoplasmic vesicle;Cytosol NA NA NA Belongs to the RRP12 family. NA PE1 10 +NX_Q5JTJ3 Cytochrome c oxidase assembly factor 6 homolog 125 14116 8.54 0 Nucleoplasm;Mitochondrion intermembrane space;Mitochondrion Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. Mitochondrial respiratory chain complex IV or cytochrome c oxidase is the component of the respiratory chain that catalyzes the transfer of electrons from intermembrane space cytochrome c to molecular oxygen in the matrix and as a consequence contributes to the proton gradient involved in mitochondrial ATP synthesis. May also be required for efficient formation of respiratory supercomplexes comprised of complexes III and IV. NA Belongs to the cytochrome c oxidase subunit 6B family. Mitochondrial protein import PE1 1 +NX_Q5JTN6 WD repeat-containing protein 38 314 34312 8.89 0 NA NA NA NA NA NA PE1 9 +NX_Q5JTV8 Torsin-1A-interacting protein 1 583 66248 8.22 1 Nucleus inner membrane;Nucleus membrane Myopathy, autosomal recessive, with rigid spine and distal joint contractures Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina. NA Belongs to the TOR1AIP family. NA PE1 1 +NX_Q5JTW2 Centrosomal protein of 78 kDa 689 76396 8.47 0 Centrosome;Cilium basal body;Centriole Cone-rod dystrophy and hearing loss 1 May be required for efficient PLK4 centrosomal localization and PLK4-induced overduplication of centrioles (PubMed:27246242). May play a role in cilium biogenesis (PubMed:27588451). NA Belongs to the CEP78 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 9 +NX_Q5JTY5 COBW domain-containing protein 3 395 44038 4.76 0 NA NA NA NA Belongs to the SIMIBI class G3E GTPase family. CobW subfamily. NA PE2 9 +NX_Q5JTZ5 Uncharacterized protein C9orf152 239 26314 8.94 0 Nucleoplasm NA NA NA NA NA PE1 9 +NX_Q5JTZ9 Alanine--tRNA ligase, mitochondrial 985 107340 5.87 0 Mitochondrion Combined oxidative phosphorylation deficiency 8;Leukoencephalopathy, progressive, with ovarian failure Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain. NA Belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation PE1 6 +NX_Q5JU00 Dynein regulatory complex subunit 5 501 55632 6.31 0 Flagellum;Cytoplasmic vesicle;Flagellum axoneme NA Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. May play a role in the assembly of N-DRC. May be required for sperm motility. NA Belongs to the DRC5 family. NA PE1 6 +NX_Q5JU67 Cilia- and flagella-associated protein 157 520 60533 8.88 0 Cytosol;Cilium basal body;Cell membrane NA Specifically required during spermatogenesis for flagellum morphogenesis and sperm motility. May be required to suppress the formation of supernumerary axonemes and ensure a correct ultrastructure. NA Belongs to the CFAP157 family. NA PE1 9 +NX_Q5JU69 Torsin-2A 321 35714 8.13 0 Endoplasmic reticulum lumen NA NA NA Belongs to the ClpA/ClpB family. Torsin subfamily. NA PE1 9 +NX_Q5JU85 IQ motif and SEC7 domain-containing protein 2 1488 162784 8.78 0 Cytoplasmic vesicle;Cytoplasm Mental retardation, X-linked 1 Is a guanine nucleotide exchange factor for the ARF GTP-binding proteins. NA Belongs to the BRAG family. Endocytosis PE1 X +NX_Q5JUK2 Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 328 34526 5.27 0 Cytoplasm;Nucleus speckle;Nucleus Spermatogenic failure 32;Ovarian dysgenesis 5 Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation without affecting meiosis I (By similarity). NA NA NA PE1 9 +NX_Q5JUK3 Potassium channel subfamily T member 1 1230 138343 7.48 6 Cell membrane Epileptic encephalopathy, early infantile, 14;Epilepsy, nocturnal frontal lobe, 5 Outwardly rectifying potassium channel subunit that may coassemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) (By similarity). Phosphorylated by protein kinase C. Phosphorylation of the C-terminal domain increases channel activity (By similarity). Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa4.1/KCNT1 sub-subfamily. NA PE1 9 +NX_Q5JUK9 P antigen family member 3 113 12480 4.61 0 NA NA NA NA Belongs to the GAGE family. NA PE1 X +NX_Q5JUQ0 Protein FAM78A 283 31968 8.22 0 Cytoplasmic vesicle;Nucleoplasm NA NA NA Belongs to the FAM78 family. NA PE1 9 +NX_Q5JUR7 Testis-expressed protein 30 227 25585 8.9 0 NA NA NA NA NA NA PE1 13 +NX_Q5JUW0 KRAB domain-containing protein 4 171 20100 5.54 0 NA NA NA NA NA Generic Transcription Pathway PE1 X +NX_Q5JUX0 Spindlin-3 258 29207 6.31 0 Nucleoplasm NA Exhibits H3K4me3-binding activity. NA Belongs to the SPIN/STSY family. NA PE1 X +NX_Q5JV73 FERM and PDZ domain-containing protein 3 1810 199209 8.44 0 NA NA NA NA NA Neutrophil degranulation PE1 X +NX_Q5JVF3 PCI domain-containing protein 2 399 46030 8.78 0 Nucleoplasm;Cytoplasm;Nucleolus;Nuclear pore complex NA Required for B-cell survival through the regulation of the expression of cell-cycle checkpoint MAD2L1 protein during B cell differentiation (By similarity). As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (PubMed:22307388) (Probable). Binds and stabilizes BRCA2 and is thus involved in the control of R-loop-associated DNA damage and transcription-associated genomic instability. R-loop accumulation does not increase in PCID2-depleted cells (PubMed:24896180). NA Belongs to the CSN12 family. NA PE1 13 +NX_Q5JVG2 Zinc finger protein 484 852 98221 8.68 0 Nucleoplasm;Cytosol;Nucleus membrane;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 9 +NX_Q5JVG8 Zinc finger protein 506 444 51537 9.42 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q5JVL4 EF-hand domain-containing protein 1 640 73990 5.82 0 Spindle pole;Spindle;Centrosome Juvenile absence epilepsy 1;Juvenile myoclonic epilepsy 1 Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581). NA NA NA PE1 6 +NX_Q5JVS0 Intracellular hyaluronan-binding protein 4 413 45785 6.97 0 Cajal body;Cytoplasm;Golgi apparatus;Stress granule;Nucleus speckle;Gem;Nuclear body;Nucleolus;Sarcoplasm;Nucleoplasm;Cytosol;Nucleus NA RNA-binding protein that plays a role in the regulation of transcription, pre-mRNA splicing and mRNA translation (PubMed:14699138, PubMed:16455055, PubMed:19523114, PubMed:21771594). Negatively regulates DNA-binding activity of the transcription factor MEF2C in myocardial cells in response to mechanical stress (By similarity). Plays a role in pre-mRNA splicing regulation (PubMed:19523114). Binds (via C-terminus) to poly(U) RNA (PubMed:19523114). Involved in mRNA translation regulation, probably at the initiation step (PubMed:21771594). Seems to play a role in PML-nuclear bodies formation (PubMed:28695742). Phosphorylated by phorbol 12-myristate 13-acetate (PMA)-activated PKC isoforms at Thr-354 and Thr-375.;Methylated (PubMed:16879614). Methylation is decreased by phorbol 12-myristate 13-acetate (PMA)-activated PKC, in vitro (PubMed:16879614). NA Platelet degranulation PE1 9 +NX_Q5JVX7 Uncharacterized protein C1orf141 400 46135 9.7 0 Cytoskeleton NA NA NA NA NA PE2 1 +NX_Q5JW98 Calcium homeostasis modulator protein 4 314 35060 6.44 4 Membrane NA Pore-forming subunit of a voltage-gated ion channel. NA Belongs to the CALHM family. NA PE1 6 +NX_Q5JWF2 Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas 1037 111025 4.91 0 Apical cell membrane;Cell membrane ACTH-independent macronodular adrenal hyperplasia 1;Pseudohypoparathyroidism 1B;Pseudohypoparathyroidism 1C;GNAS hyperfunction Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP. GNAS functions downstream of several GPCRs, including beta-adrenergic receptors. XLas isoforms interact with the same set of receptors as GNAS isoforms (By similarity). NA Belongs to the G-alpha family. G(s) subfamily. Calcium signaling pathway;Vascular smooth muscle contraction;Gap junction;Glutamatergic synapse;Dopaminergic synapse;Long-term depression;Taste transduction;GnRH signaling pathway;Melanogenesis;Endocrine and other factor-regulated calcium reabsorption;Vasopressin-regulated water reabsorption;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Bile secretion;Vibrio cholerae infection;Chagas disease (American trypanosomiasis);Amoebiasis;Dilated cardiomyopathy;G alpha (i) signalling events;G alpha (s) signalling events;Hedgehog 'off' state;PKA activation in glucagon signalling;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;Prostacyclin signalling through prostacyclin receptor;G alpha (z) signalling events;Glucagon-type ligand receptors PE1 20 +NX_Q5JWF8 Actin-like protein 10 245 26751 9.5 0 NA NA NA NA Belongs to the actin family. NA PE1 20 +NX_Q5JWR5 Protein dopey-1 2465 277355 5.88 0 Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus membrane NA May be involved in protein traffic between late Golgi and early endosomes. NA Belongs to the dopey family. NA PE1 6 +NX_Q5JX69 Protein FAM209B 171 19499 9.08 1 Membrane NA NA NA Belongs to the FAM209 family. NA PE1 20 +NX_Q5JX71 Protein FAM209A 171 19603 9.51 1 Membrane NA NA NA Belongs to the FAM209 family. NA PE1 20 +NX_Q5JXA9 Signal-regulatory protein beta-2 342 36968 5.47 1 Membrane;Nucleus NA NA NA NA NA PE1 20 +NX_Q5JXB2 Putative ubiquitin-conjugating enzyme E2 N-like 153 17377 5.66 0 NA NA NA NA Belongs to the ubiquitin-conjugating enzyme family. Ubiquitin mediated proteolysis PE1 X +NX_Q5JXC2 Migration and invasion-inhibitory protein 388 42824 8.68 0 Nucleoplasm;Cytosol NA Inhibits glioma cells invasion and down-regulates adhesion- and motility-associated genes such as NFKB2 and ICAM1. Exhibits opposing effects to IGFBP2 on cell invasion. Is degraded by the ubiquitin-proteasome pathway. NA NA PE1 1 +NX_Q5JXM2 Methyltransferase-like protein 24 366 41330 9.41 0 Secreted NA NA NA Belongs to the methyltransferase superfamily. NA PE2 6 +NX_Q5JXX5 Glycine receptor subunit alpha-4 417 47728 8.5 3 Postsynaptic cell membrane;Cell membrane;Perikaryon;Synapse;Dendrite NA Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine. Channel opening is also triggered by taurine and beta-alanine. Plays a role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA4 sub-subfamily. Neurotransmitter receptors and postsynaptic signal transmission PE2 X +NX_Q5JXX7 Transmembrane protein 31 168 19813 6.09 2 Membrane;Nucleolus NA NA NA NA NA PE1 X +NX_Q5JY77 G-protein coupled receptor-associated sorting protein 1 1395 156865 4.64 0 Cytoplasm;Cytosol NA Modulates lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. Targets receptors for degradation in lysosomes via its interaction with BECN2. NA Belongs to the GPRASP family. NA PE1 X +NX_Q5JYT7 Uncharacterized protein KIAA1755 1200 130846 5.97 0 Golgi apparatus;Nucleolus;Cytoplasmic vesicle NA NA NA NA NA PE1 20 +NX_Q5JZY3 Ephrin type-A receptor 10 1008 109716 6.52 1 Secreted;Cell membrane NA Receptor for members of the ephrin-A family. Binds to EFNA3, EFNA4 and EFNA5. NA Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. EPH-Ephrin signaling;EPH-ephrin mediated repulsion of cells;EPHA-mediated growth cone collapse PE1 1 +NX_Q5K130 Putative chronic lymphocytic leukemia up-regulated protein 1 opposite strand transcript protein 101 10963 9.55 0 NA NA NA NA NA NA PE5 12 +NX_Q5K131 Chronic lymphocytic leukemia up-regulated protein 1 121 14228 9.08 0 Cytoplasm NA NA NA NA NA PE2 12 +NX_Q5K4E3 Polyserase-2 855 91955 5.41 0 Extracellular matrix NA Serine protease. Hydrolyzes the peptides N-t-Boc-Gln-Ala-Arg-AMC and N-t-Boc-Gln-Gly-Arg-AMC and, to a lesser extent, N-t-Boc-Ala-Phe-Lys-AMC and N-t-Boc-Val-Leu-Lys-AMC. Has a preference for substrates with an Arg instead of a Lys residue in position P1. N-glycosylated.;The 3 protease domains are not proteolytically cleaved. Belongs to the peptidase S1 family. NA PE1 16 +NX_Q5K4L6 Solute carrier family 27 member 3 683 73550 6.64 1 Mitochondrion membrane;Endoplasmic reticulum NA Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids. Does not exhibit fatty acid transport activity (By similarity). NA Belongs to the ATP-dependent AMP-binding enzyme family. Synthesis of very long-chain fatty acyl-CoAs PE1 1 +NX_Q5K651 Sterile alpha motif domain-containing protein 9 1589 184281 7.98 0 Cytoplasm;Cytosol;Cytoplasmic vesicle MIRAGE syndrome;Tumoral calcinosis, normophosphatemic, familial May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification, acting as a downstream target of TNF-alpha signaling. Involved in the regulation of EGR1, in coordination with RGL2. May be involved in endosome fusion. NA NA NA PE1 7 +NX_Q5KSL6 Diacylglycerol kinase kappa 1271 141829 5.36 0 Membrane;Cytoplasm NA Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA). Phosphorylated at Tyr-78 by some member of the SRC family in response to H(2)O(2). Belongs to the eukaryotic diacylglycerol kinase family. Effects of PIP2 hydrolysis PE1 X +NX_Q5KU26 Collectin-12 742 81515 5.48 1 Membrane;Golgi apparatus;Cell junction;Cytoplasmic vesicle NA Scavenger receptor that displays several functions associated with host defense. Promotes binding and phagocytosis of Gram-positive, Gram-negative bacteria and yeast. Mediates the recognition, internalization and degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. Binds to several carbohydrates including Gal-type ligands, D-galactose, L- and D-fucose, GalNAc, T and Tn antigens in a calcium-dependent manner and internalizes specifically GalNAc in nurse-like cells. Binds also to sialyl Lewis X or a trisaccharide and asialo-orosomucoid (ASOR). May also play a role in the clearance of amyloid-beta in Alzheimer disease. NA NA Phagosome;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Scavenging by Class A Receptors PE1 18 +NX_Q5M775 Cytospin-B 1068 118585 6.29 0 Nucleolus;Membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA NA NA Belongs to the cytospin-A family. NA PE1 17 +NX_Q5M7Z0 E3 ubiquitin-protein ligase RNFT1 435 49710 8.85 6 Endoplasmic reticulum membrane;Nucleolus NA E3 ubiquitin-protein ligase that acts in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which targets misfolded proteins that accumulate in the endoplasmic reticulum (ER) for ubiquitination and subsequent proteasome-mediated degradation. Protects cells from ER stress-induced apoptosis. NA NA Protein modification; protein ubiquitination. PE1 17 +NX_Q5M8T2 Solute carrier family 35 member D3 416 44183 6.94 10 Membrane;Centriolar satellite NA May play a role in hemostasis as a regulator of the biosynthesis of platelet-dense granules. NA Belongs to the TPT transporter family. SLC35D subfamily. NA PE1 6 +NX_Q5M9N0 Coiled-coil domain-containing protein 158 1113 127140 6.08 0 NA NA NA NA NA NA PE1 4 +NX_Q5M9Q1 NKAP-like protein 402 46312 9.73 0 Nucleus NA Transcriptional repressor of Notch-mediated signaling. Required for spermatogenesis. NA Belongs to the NKAP family. NA PE2 6 +NX_Q5MAI5 Cyclin-dependent kinase-like 4 379 43384 9 0 Cytoplasm NA NA NA Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. NA PE1 2 +NX_Q5MCW4 Zinc finger protein 569 686 79583 8.97 0 Golgi apparatus;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q5MIZ7 Serine/threonine-protein phosphatase 4 regulatory subunit 3B 849 97458 4.87 0 Cytoplasm;Nucleus speckle;Nucleoplasm;Centrosome;Nucleus NA Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C at centrosomal microtubule organizing centers. NA Belongs to the SMEK family. NA PE1 2 +NX_Q5MJ07 Sperm protein associated with the nucleus on the X chromosome N5 72 8277 8.6 0 NA NA NA NA Belongs to the SPAN-X family. NA PE2 X +NX_Q5MJ08 Sperm protein associated with the nucleus on the X chromosome N4 99 11168 9.25 0 NA NA NA NA Belongs to the SPAN-X family. NA PE1 X +NX_Q5MJ09 Sperm protein associated with the nucleus on the X chromosome N3 141 15595 4.22 0 NA NA NA NA Belongs to the SPAN-X family. NA PE1 X +NX_Q5MJ10 Sperm protein associated with the nucleus on the X chromosome N2 180 19917 3.86 0 NA NA NA NA Belongs to the SPAN-X family. NA PE1 X +NX_Q5MJ68 Speedy protein C 293 33166 8.4 0 Cytoplasm NA Promotes progression through the cell cycle via binding and activation of CDK1 and CDK2. Involved in the spindle-assembly checkpoint. Required for recruitment of MAD2L1, BUBR1 and BUB1 to kinetochores. Required for the correct localization of the active form of Aurora B in prometaphase. NA Belongs to the Speedy/Ringo family. Oocyte meiosis;Progesterone-mediated oocyte maturation PE1 11 +NX_Q5MJ70 Speedy protein A 313 36463 9.07 0 Nucleoplasm;Nucleus NA Regulates the G1/S phase transition of the cell cycle by binding and activating CDK1 and CDK2 (PubMed:12972555). Contributes to CDK2 activation without promoting CDK2 phosphorylation, by inducing a conformation change of the CDK2 T-loop that obstructs the substrate-binding cleft prior to kinase activation (PubMed:28666995). Mediates cell survival during the DNA damage process through activation of CDK2 (PubMed:12839962). NA Belongs to the Speedy/Ringo family. Oocyte meiosis;Progesterone-mediated oocyte maturation PE1 2 +NX_Q5MNV8 F-box only protein 47 452 51968 8.69 0 NA NA Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. NA NA NA PE2 17 +NX_Q5MNZ6 WD repeat domain phosphoinositide-interacting protein 3 344 38122 7.53 0 Golgi apparatus;Nucleoplasm;Preautophagosomal structure;Lysosome;Cytosol Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:28561066). Binds phosphatidylinositol 3-phosphate (PtdIns3P) forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases and is recruited at phagophore assembly sites where it regulates the elongation of nascent phagophores downstream of WIPI2 (PubMed:28561066). In the cellular response to starvation, may also function together with the TSC1-TSC2 complex and RB1CC1 in the inhibition of the mTORC1 signaling pathway (PubMed:28503735). NA Belongs to the WD repeat SVP1 family. Macroautophagy PE1 17 +NX_Q5MNZ9 WD repeat domain phosphoinositide-interacting protein 1 446 48673 6.14 0 trans-Golgi network;Golgi apparatus;Clathrin-coated vesicle;Preautophagosomal structure membrane;Nucleoplasm;Endosome;Cytosol;Cytoskeleton NA Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:28561066). Plays an important role in starvation- and calcium-mediated autophagy, as well as in mitophagy (PubMed:28561066). Functions downstream of the ULK1 and PI3-kinases that produce phosphatidylinositol 3-phosphate (PtdIns3P) on membranes of the endoplasmic reticulum once activated (PubMed:28561066). Binds phosphatidylinositol 3-phosphate (PtdIns3P), and maybe other phosphoinositides including PtdIns3,5P2 and PtdIns5P, and is recruited to phagophore assembly sites at the endoplasmic reticulum membranes (PubMed:28561066). There, it assists WIPI2 in the recruitment of ATG12-ATG5-ATG16L1, a complex that directly controls the elongation of the nascent autophagosomal membrane (PubMed:28561066). Involved in xenophagy of Staphylococcus aureus. Invading S.aureus cells become entrapped in autophagosome-like WIPI1 positive vesicles targeted for lysosomal degradation. Plays also a distinct role in controlling the transcription of melanogenic enzymes and melanosome maturation, a process that is distinct from starvation-induced autophagy. May also regulate the trafficking of proteins involved in the mannose-6-phosphate receptor (MPR) recycling pathway. NA Belongs to the WD repeat SVP1 family. Macroautophagy;XBP1(S) activates chaperone genes PE1 17 +NX_Q5MY95 Ectonucleoside triphosphate diphosphohydrolase 8 495 53904 5.19 2 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Cell membrane NA Canalicular ectonucleoside NTPDase responsible for the main hepatic NTPDase activity. Ectonucleoside NTPDases catalyze the hydrolysis of gamma- and beta-phosphate residues of nucleotides, playing a central role in concentration of extracellular nucleotides. Has activity toward ATP, ADP, UTP and UDP, but not toward AMP. N-glycosylated. Belongs to the GDA1/CD39 NTPase family. Purine metabolism;Pyrimidine metabolism;Phosphate bond hydrolysis by NTPDase proteins PE1 9 +NX_Q5NDL2 EGF domain-specific O-linked N-acetylglucosamine transferase 527 62011 6.58 0 Nucleoplasm;Cytosol;Endoplasmic reticulum lumen;Nucleus membrane Adams-Oliver syndrome 4 Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in extracellular proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc). Specifically glycosylates the Thr residue located between the fifth and sixth conserved cysteines of folded EGF-like domains. NA Belongs to the glycosyltransferase 61 family. NA PE1 3 +NX_Q5NE16 Putative inactive cathepsin L-like protein CTSL3P 218 25059 6.64 0 NA NA NA NA Belongs to the peptidase C1 family. NA PE5 9 +NX_Q5NUL3 Free fatty acid receptor 4 377 42241 9.52 7 Cell membrane NA Receptor for medium and long-chain free fatty acids (FFAs). Signals via a G(q)/G(11)-coupled pathway. Acts as a receptor for omega-3 fatty acids and mediates robust anti-inflammatory effects, particularly in macrophages and fat cells. The anti-inflammatory effects involve inhibition of TAK1 through a beta-arrestin 2 (ARRB2)/TAB1-dependent effect, but independent of the G(q)/G(11)-coupled pathway. Mediates potent insulin sensitizing and antidiabetic effects by repressing macrophage-induced tissue inflammation. May mediate the taste of fatty acids. Mediates FFA-induced inhibition of apoptosis in enteroendocrine cells. May play a role in the regulation of adipocyte development and differentiation. Phosphorylated. FFA stimulation facilitates phosphorylation. Belongs to the G-protein coupled receptor 1 family. G alpha (q) signalling events;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);Free fatty acid receptors PE1 10 +NX_Q5PR19 Putative UPF0607 protein LOC392364 223 24634 10.47 0 NA NA NA NA Belongs to the UPF0607 family. NA PE2 9 +NX_Q5PRF9 Protein Smaug homolog 2 694 75483 6.37 0 Cytoplasm;Cytosol;Nucleus NA Has transcriptional repressor activity. Overexpression inhibits the transcriptional activities of AP-1, p53/TP53 and CDKN1A. NA Belongs to the SMAUG family. NA PE1 19 +NX_Q5PSV4 Breast cancer metastasis-suppressor 1-like protein 323 37629 5.04 0 Nucleoplasm;Nucleus NA Involved in the histone deacetylase (HDAC1)-dependent transcriptional repression activity. When overexpressed in lung cancer cell line that lacks p53/TP53 expression, inhibits cell growth. NA Belongs to the BRMS1 family. NA PE1 14 +NX_Q5PT55 Sodium/bile acid cotransporter 5 438 48871 9.02 9 Membrane;Cell membrane NA NA NA Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. NA PE1 8 +NX_Q5QFB9 Protein PAPPAS 102 12196 9.78 2 Endoplasmic reticulum membrane NA NA NA NA NA PE5 9 +NX_Q5QGS0 Neurite extension and migration factor 1516 167551 6.03 0 Cytoplasm;Nucleoplasm;Midbody;Cytosol;Spindle;Nucleus Mental retardation, X-linked 98 Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. May act by regulating expression of protein-coding genes, such as N-cadherins and integrin beta-1 (ITGB1). NA NA NA PE1 X +NX_Q5QGT7 Receptor-transporting protein 2 225 26068 5.63 1 Cell membrane NA Specifically promotes functional cell surface expression of olfactory receptors, but not of other GPCRs. NA Belongs to the TMEM7 family. Olfactory Signaling Pathway PE1 3 +NX_Q5QGZ9 C-type lectin domain family 12 member A 265 30762 8.87 1 Cell membrane NA Cell surface receptor that modulates signaling cascades and mediates tyrosine phosphorylation of target MAP kinases. Highly N-glycosylated. Glycosylation varies between cell types. NA Neutrophil degranulation PE1 12 +NX_Q5QJ38 Trichohyalin-like protein 1 904 99275 4.62 0 Nucleolus;Nucleus membrane NA NA NA Belongs to the S-100 family. NA PE1 1 +NX_Q5QJ74 Tubulin-specific chaperone cofactor E-like protein 424 48195 5.23 0 Cytosol;Cytoskeleton NA Acts as a regulator of tubulin stability. NA NA NA PE1 11 +NX_Q5QJE6 Deoxynucleotidyltransferase terminal-interacting protein 2 756 84469 5.86 0 Nucleolus;Nucleus NA Regulates the transcriptional activity of DNTT and ESR1. May function as a chromatin remodeling protein. NA NA NA PE1 1 +NX_Q5QJU3 Alkaline ceramidase 2 275 31309 7.87 7 Golgi apparatus membrane NA Golgi ceramidase that catalyzes the hydrolysis of ceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH (PubMed:16940153, PubMed:18945876, PubMed:20207939, PubMed:20089856). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:20207939). Has a better catalytic efficiency towards unsaturated long-chain ceramides, including C18:1-, C20:1- and C24:1-ceramides (PubMed:16940153, PubMed:18945876, PubMed:20207939, PubMed:20089856). Saturated long-chain ceramides and unsaturated very long-chain ceramides are also good substrates, whereas saturated very long-chain ceramides and short-chain ceramides are poor substrates (PubMed:20089856). Also hydrolyzes dihydroceramides to produce dihydrosphingosine (PubMed:20207939, PubMed:20628055). It is the ceramidase that controls the levels of circulating sphingosine-1-phosphate and dihydrosphingosine-1-phosphate in plasma through their production by hematopoietic cells (By similarity). Regulates cell proliferation, autophagy and apoptosis by the production of sphingosine and sphingosine-1-phosphate (PubMed:16940153, PubMed:26943039, PubMed:28294157, PubMed:29229990). As part of a p53/TP53-dependent pathway, promotes for instance autophagy and apoptosis in response to DNA damage (PubMed:26943039, PubMed:28294157, PubMed:29229990). Through the production of sphingosine, may also regulate the function of the Golgi complex and regulate the glycosylation of proteins (PubMed:18945876). NA Belongs to the alkaline ceramidase family. Lipid metabolism; sphingolipid metabolism.;Sphingolipid metabolism;Metabolic pathways;Sphingolipid de novo biosynthesis PE1 9 +NX_Q5QNW6 Histone H2B type 2-F 126 13920 10.31 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes (By similarity).;Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination. Belongs to the histone H2B family. Systemic lupus erythematosus;HATs acetylate histones;HDACs deacetylate histones;Ub-specific processing proteases PE1 1 +NX_Q5QP82 DDB1- and CUL4-associated factor 10 559 60582 7.3 0 Nucleolus NA May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. NA Belongs to the WD repeat DCAF10 family. Protein modification; protein ubiquitination.;Neddylation PE1 9 +NX_Q5R372 Rab GTPase-activating protein 1-like 815 92513 5.18 0 Golgi apparatus;Early endosome;Cytoplasmic vesicle Leukemia, acute myelogenous GTP-hydrolysis activating protein (GAP) for small GTPase RAB22A, converting active RAB22A-GTP to the inactive form RAB22A-GDP (PubMed:16923123). Plays a role in endocytosis and intracellular protein transport. Recruited by ANK2 to phosphatidylinositol 3-phosphate (PI3P)-positive early endosomes, where it inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous directional cell migration (By similarity). NA NA NA PE1 1 +NX_Q5R387 Putative inactive group IIC secretory phospholipase A2 149 16844 8.89 0 Secreted NA Inactive phospholipase. NA Belongs to the phospholipase A2 family. NA PE2 1 +NX_Q5R3F8 Protein phosphatase 1 regulatory subunit 29 820 89687 7.56 1 Membrane;Nucleoplasm;Cytoplasmic vesicle NA Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. NA NA NA PE1 22 +NX_Q5R3I4 Tetratricopeptide repeat protein 38 469 52787 5.61 0 Cytosol NA NA NA Belongs to the TTC38 family. NA PE1 22 +NX_Q5R3K3 Calcium homeostasis modulator protein 6 315 34458 8.87 4 Membrane NA Pore-forming subunit of a voltage-gated ion channel. NA Belongs to the CALHM family. NA PE1 6 +NX_Q5RGS3 Protein FAM74A1 127 14779 10.5 1 Membrane NA NA NA Belongs to the FAM74 family. NA PE1 9 +NX_Q5RHP9 Glutamate-rich protein 3 1530 168466 4.84 0 NA NA NA NA NA NA PE1 1 +NX_Q5RI15 Cytochrome c oxidase assembly protein COX20, mitochondrial 118 13291 9 2 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex IV deficiency Essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase (PubMed:23125284). Acts as a chaperone in the early steps of cytochrome c oxidase subunit II (MT-CO2/COX2) maturation, stabilizing the newly synthesized protein and presenting it to metallochaperones SCO1/2 which in turn facilitates the incorporation of the mature MT-CO2/COX2 into the assembling CIV holoenzyme (PubMed:24403053). NA Belongs to the COX20 family. Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 1 +NX_Q5RIA9 COBW domain-containing protein 5 395 44068 4.76 0 Cytoplasm;Nucleus NA NA NA Belongs to the SIMIBI class G3E GTPase family. CobW subfamily. NA PE2 9 +NX_Q5RKV6 Exosome complex component MTR3 272 28235 6.06 0 Cytoplasm;Nucleolus;Nucleus NA Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. NA Belongs to the RNase PH family. RNA degradation;ATF4 activates genes in response to endoplasmic reticulum stress;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA;KSRP (KHSRP) binds and destabilizes mRNA;mRNA decay by 3' to 5' exoribonuclease;Major pathway of rRNA processing in the nucleolus and cytosol PE1 16 +NX_Q5RL73 RNA-binding protein 48 367 41808 8.92 0 Nucleoplasm;Nucleus NA NA NA Belongs to the RBM48 family. NA PE1 7 +NX_Q5S007 Leucine-rich repeat serine/threonine-protein kinase 2 2527 286103 6.35 0 Mitochondrion outer membrane;Endoplasmic reticulum membrane;Lysosome;Perikaryon;Nucleoplasm;Endosome;Synaptic vesicle membrane;Golgi apparatus membrane;Cytoplasmic vesicle;Axon;Dendrite Parkinson disease 8 Serine/threonine-protein kinase which phosphorylates a broad range of proteins involved in multiple processes such as neuronal plasticity, autophagy, and vesicle trafficking (PubMed:20949042, PubMed:22012985, PubMed:26824392, PubMed:29125462, PubMed:28720718, PubMed:29127255, PubMed:30398148, PubMed:29212815, PubMed:30635421, PubMed:21850687, PubMed:23395371, PubMed:17114044, PubMed:24687852, PubMed:26014385, PubMed:25201882). Is a key regulator of RAB GTPases by regulating the GTP/GDP exchange and interaction partners of RABs through phosphorylation (PubMed:26824392, PubMed:28720718, PubMed:29127255, PubMed:30398148, PubMed:29212815, PubMed:29125462, PubMed:30635421). Phosphorylates RAB3A, RAB3B, RAB3C, RAB3D, RAB5A, RAB5B, RAB5C, RAB8A, RAB8B, RAB10, RAB12, RAB35, and RAB43 (PubMed:26824392, PubMed:28720718, PubMed:29127255, PubMed:30398148, PubMed:29212815, PubMed:29125462, PubMed:30635421, PubMed:23395371). Regulates the RAB3IP-catalyzed GDP/GTP exchange for RAB8A through the phosphorylation of 'Thr-72' on RAB8A (PubMed:26824392). Inhibits the interaction between RAB8A and GDI1 and/or GDI2 by phosphorylating 'Thr-72' on RAB8A (PubMed:26824392). Regulates primary ciliogenesis through phosphorylation of RAB8A and RAB10, which promotes SHH signaling in the brain (PubMed:29125462, PubMed:30398148). Together with RAB29, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose-6-phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner (PubMed:23395371). Regulates neuronal process morphology in the intact central nervous system (CNS) (PubMed:17114044). Plays a role in synaptic vesicle trafficking (PubMed:24687852). Plays an important role in recruiting SEC16A to endoplasmic reticulum exit sites (ERES) and in regulating ER to Golgi vesicle-mediated transport and ERES organization (PubMed:25201882). Positively regulates autophagy through a calcium-dependent activation of the CaMKK/AMPK signaling pathway (PubMed:22012985). The process involves activation of nicotinic acid adenine dinucleotide phosphate (NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes (PubMed:22012985). Phosphorylates PRDX3 (PubMed:21850687). By phosphorylating APP on 'Thr-743', which promotes the production and the nuclear translocation of the APP intracellular domain (AICD), regulates dopaminergic neuron apoptosis (PubMed:28720718). Independent of its kinase activity, inhibits the proteosomal degradation of MAPT, thus promoting MAPT oligomerization and secretion (PubMed:26014385). In addition, has GTPase activity via its Roc domain which regulates LRRK2 kinase activity (PubMed:18230735, PubMed:26824392, PubMed:29125462, PubMed:28720718, PubMed:29212815). Autophosphorylated (PubMed:28202711, PubMed:28720718, PubMed:29127255, PubMed:29212815, PubMed:30635421). Phosphorylation of Ser-910 and either Ser-935 or Ser-1444 facilitates interaction with YWHAG (PubMed:28202711). Phosphorylation of Ser-910 and/or Ser-935 facilitates interaction with SFN (PubMed:28202711).;LRRK2 is phosphorylated by PRKG2;LRRK2 is phosphorylated by PRKCZ (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Parkinson's disease;PTK6 promotes HIF1A stabilization PE1 12 +NX_Q5SGD2 Protein phosphatase 1L 360 41053 5.58 1 Membrane;Nucleoplasm;Cytosol NA Acts as a suppressor of the SAPK signaling pathways by associating with and dephosphorylating MAP3K7/TAK1 and MAP3K5, and by attenuating the association between MAP3K7/TAK1 and MAP2K4 or MAP2K6. NA Belongs to the PP2C family. Sphingolipid de novo biosynthesis PE1 3 +NX_Q5SNT2 Transmembrane protein 201 666 72236 9.42 5 Nucleoplasm;Spindle pole;Nucleus membrane;Nucleus inner membrane NA Involved in nuclear movement during fibroblast polarization and migration. Proposed to be involved in actin-dependent nuclear movement via association with transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow (By similarity). Overexpression can recruit Ran GTPase to the nuclear periphery (PubMed:27541860).;May define a distinct membrane domain in the vicinity of the mitotic spindle (PubMed:19494128). Involved in the organization of the nuclear envelope implicating EMD, SUN1 and A-type lamina (PubMed:21610090). NA Belongs to the TMEM201 family. NA PE1 1 +NX_Q5SNV9 Uncharacterized protein C1orf167 1468 162423 10.71 0 NA NA NA NA NA NA PE2 1 +NX_Q5SQ64 Lymphocyte antigen 6 complex locus protein G6f 297 32465 8.91 1 Cell membrane NA May play a role in the downstream signal transduction pathways involving GRB2 and GRB7. N-glycosylated. NA Platelet degranulation PE1 6 +NX_Q5SQ80 Ankyrin repeat domain-containing protein 20A2 823 94087 8.12 0 NA NA NA NA NA NA PE2 9 +NX_Q5SQH8 Uncharacterized protein C6orf136 315 35794 8.99 0 NA NA NA NA NA NA PE1 6 +NX_Q5SQI0 Alpha-tubulin N-acetyltransferase 1 421 46810 9.97 0 Cytoplasm;Golgi apparatus;Axon;Focal adhesion;Clathrin-coated pit;Cytosol;Spindle;Cytoskeleton NA Specifically acetylates 'Lys-40' in alpha-tubulin on the lumenal side of microtubules. Promotes microtubule destabilization and accelerates microtubule dynamics; this activity may be independent of acetylation activity. Acetylates alpha-tubulin with a slow enzymatic rate, due to a catalytic site that is not optimized for acetyl transfer. Enters the microtubule through each end and diffuses quickly throughout the lumen of microtubules. Acetylates only long/old microtubules because of its slow acetylation rate since it does not have time to act on dynamically unstable microtubules before the enzyme is released. Required for normal sperm flagellar function. Promotes directional cell locomotion and chemotaxis, through AP2A2-dependent acetylation of alpha-tubulin at clathrin-coated pits that are concentrated at the leading edge of migrating cells. May facilitate primary cilium assembly. Autoacetylation strongly increases tubulin acetylation. Belongs to the acetyltransferase ATAT1 family. Cilium Assembly PE1 6 +NX_Q5SQN1 Synaptosomal-associated protein 47 464 52562 8.87 0 Endomembrane system;Perinuclear region;Cytosol NA Plays a role in intracellular membrane fusion. NA Belongs to the SVAP1 family. SNARE interactions in vesicular transport PE1 1 +NX_Q5SQQ9 Ventral anterior homeobox 1 334 34713 9.47 0 Nucleoplasm;Nucleolus;Nucleus Microphthalmia, syndromic, 11 Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk (By similarity). NA Belongs to the EMX homeobox family. NA PE1 10 +NX_Q5SQS7 SH2 domain-containing protein 4B 431 51232 5.87 0 NA NA NA NA NA NA PE2 10 +NX_Q5SQS8 Uncharacterized protein C10orf120 335 39268 9.5 0 NA NA NA NA NA NA PE1 10 +NX_Q5SR53 Putative uncharacterized protein PIK3CD-AS1 167 18168 9.65 0 NA NA NA NA NA NA PE5 1 +NX_Q5SR56 Hippocampus abundant transcript-like protein 1 506 54545 5.16 12 Membrane;Nucleoplasm;Cytosol NA NA NA Belongs to the major facilitator superfamily. NA PE1 9 +NX_Q5SRD0 WASH complex subunit 2D 308 33372 5.2 0 NA NA NA NA Belongs to the FAM21 family. NA PE3 10 +NX_Q5SRD1 Putative mitochondrial import inner membrane translocase subunit Tim23B 257 28048 9.47 2 Mitochondrion inner membrane NA May participate in the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. The PAM complex (By similarity). NA Belongs to the Tim17/Tim22/Tim23 family. NA PE5 10 +NX_Q5SRE5 Nucleoporin NUP188 homolog 1749 196043 6.27 0 Nucleoplasm;Cytosol;Nucleolus;Nuclear pore complex NA May function as a component of the nuclear pore complex (NPC). NA NA RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 9 +NX_Q5SRE7 Phytanoyl-CoA dioxygenase domain-containing protein 1 291 32411 5.88 0 Nucleus speckle NA Probably lack enzyme activity.;Has alpha-ketoglutarate-dependent dioxygenase activity. Does not show detectable activity towards fatty acid CoA thioesters. Is not expected to be active with phytanoyl CoA. NA Belongs to the PhyH family. PHYHD1 subfamily. NA PE1 9 +NX_Q5SRH9 Tetratricopeptide repeat protein 39A 613 69778 7.25 0 Centrosome NA NA NA Belongs to the TTC39 family. NA PE1 1 +NX_Q5SRI9 Glycoprotein endo-alpha-1,2-mannosidase 462 53671 9.14 1 Golgi apparatus;Golgi apparatus membrane NA NA Undergoes proteolytic cleavage in the C-terminal region. Belongs to the glycosyl hydrolase 99 family. N-glycan trimming and elongation in the cis-Golgi PE1 6 +NX_Q5SRN2 Testis-expressed basic protein 1 563 61626 9.28 2 Membrane NA NA NA NA NA PE1 6 +NX_Q5SRR4 Lymphocyte antigen 6 complex locus protein G5c 150 16650 8.04 0 Nucleoplasm;Cytosol;Secreted NA May have a role in hematopoietic cell differentiation. N-glycosylated. NA NA PE1 6 +NX_Q5SSG8 Mucin-21 566 54228 4.8 1 Cell membrane NA NA O-glycosylated. NA O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1) PE1 6 +NX_Q5SSJ5 Heterochromatin protein 1-binding protein 3 553 61207 9.69 0 Nucleus speckle;Nucleus;Chromosome NA Component of heterochromatin that maintains heterochromatin integrity during G1/S progression and regulates the duration of G1 phase to critically influence cell proliferative capacity (PubMed:24830416). Mediates chromatin condensation during hypoxia, leading to increased tumor cell viability, radio-resistance, chemo-resistance and self-renewal(PubMed:25100860). NA NA NA PE1 1 +NX_Q5SSQ6 Suppressor APC domain-containing protein 1 148 16650 7.88 0 Cytoplasmic vesicle;Cell junction NA NA NA NA NA PE2 6 +NX_Q5ST30 Valine--tRNA ligase, mitochondrial 1063 118490 6.56 0 Mitochondrion Combined oxidative phosphorylation deficiency 20 NA NA Belongs to the class-I aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation PE1 6 +NX_Q5STR5 Small integral membrane protein 40 79 8950 4.39 1 Membrane NA NA NA NA NA PE1 6 +NX_Q5SV17 Transmembrane protein 240 173 19908 7.71 2 Synapse;Cell membrane Spinocerebellar ataxia 21 NA NA Belongs to the TMEM240 family. NA PE1 1 +NX_Q5SV97 PGC-1 and ERR-induced regulator in muscle protein 1 790 81351 5.4 0 Cytoplasm;Nucleus NA Regulates the expression of selective PPARGC1A/B and ESRRA/B/G target genes with roles in glucose and lipid metabolism, energy transfer, contractile function, muscle mitochondrial biogenesis and oxidative capacity. Required for the efficient induction of MT-CO2, MT-CO3, COX4I1, TFB1M, TFB2M, POLRMT and SIRT3 by PPARGC1A. Positively regulates the PPARGC1A/ESRRG-induced expression of CKMT2, TNNI3 and SLC2A4 and negatively regulates the PPARGC1A/ESRRG-induced expression of PDK4. NA NA Transcriptional activation of mitochondrial biogenesis PE1 1 +NX_Q5SVJ3 Uncharacterized protein C1orf100 147 17617 9.64 0 Nucleoplasm;Cytosol;Nucleus NA NA NA NA NA PE1 1 +NX_Q5SVQ8 Zinc finger and BTB domain-containing protein 41 909 105192 8.17 0 Nucleoplasm;Cytosol;Nucleus membrane;Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 1 +NX_Q5SVS4 Kidney mitochondrial carrier protein 1 291 32475 9.49 6 Nucleoplasm;Mitochondrion inner membrane NA Probable transporter. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 13 +NX_Q5SVZ6 Zinc finger MYM-type protein 1 1142 128717 7.51 0 Centriolar satellite;Nucleus NA NA NA NA NA PE1 1 +NX_Q5SW24 Dapper homolog 2 774 82700 9.09 0 NA NA Involved in regulation of intracellular signaling pathways during development. Negatively regulates the Nodal signaling pathway, possibly by promoting the lysosomal degradation of Nodal receptors, such as TGFBR1. May be involved in control of the morphogenetic behavior of kidney ureteric bud cells by keeping cells epithelial and restraining their mesenchymal character. May play an inhibitory role in the re-epithelialization of skin wounds by attenuating TGF-beta signaling (By similarity). NA Belongs to the dapper family. NA PE1 6 +NX_Q5SW79 Centrosomal protein of 170 kDa 1584 175293 6.64 0 Spindle;Centriole NA Plays a role in microtubule organization (PubMed:15616186). Required for centriole subdistal appendage assembly (PubMed:28422092). Phosphorylated; probably by PLK1.;CEP170 is phosphorylated by PLK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the CEP170 family. NA PE1 1 +NX_Q5SW96 Low density lipoprotein receptor adapter protein 1 308 33885 6.25 0 Cytoplasm;Cytoskeleton Hypercholesterolemia, autosomal recessive Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate the endocytocis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internalization of other LDLR family members. Binds to phosphoinositides, which regulate clathrin bud assembly at the cell surface. Required for trafficking of LRP2 to the endocytic recycling compartment which is necessary for LRP2 proteolysis, releasing a tail fragment which translocates to the nucleus and mediates transcriptional repression (By similarity). NA NA Endocytosis;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;LDL clearance;Chylomicron clearance PE1 1 +NX_Q5SWA1 Protein phosphatase 1 regulatory subunit 15B 713 79152 4.59 0 Golgi apparatus Microcephaly, short stature, and impaired glucose metabolism 2 Maintains low levels of EIF2S1 phosphorylation in unstressed cells by promoting its dephosphorylation by PP1. NA Belongs to the PPP1R15 family. NA PE1 1 +NX_Q5SWH9 Transmembrane protein 69 247 27551 9.98 5 Membrane;Nucleoplasm NA NA NA NA NA PE1 1 +NX_Q5SWL7 PRAME family member 14 426 49433 8.7 0 NA NA NA NA Belongs to the PRAME family. NA PE3 1 +NX_Q5SWL8 PRAME family member 19 479 55208 7.99 0 NA NA NA NA Belongs to the PRAME family. NA PE3 1 +NX_Q5SWW7 Uncharacterized protein C10orf55 151 16057 6.95 0 Nucleoplasm NA NA NA NA NA PE1 10 +NX_Q5SWX8 Protein odr-4 homolog 454 51103 5.62 2 Membrane;Nucleoplasm;Cell membrane NA May play a role in the trafficking of a subset of G-protein coupled receptors. NA Belongs to the ODR-4 family. NA PE1 1 +NX_Q5SXH7 Pleckstrin homology domain-containing family S member 1 462 51763 5.55 0 Cytoplasmic vesicle;Centrosome NA NA NA NA NA PE1 10 +NX_Q5SXM1 Zinc finger protein 678 525 61411 9.36 0 Nucleolus;Cytosol;Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 1 +NX_Q5SXM2 snRNA-activating protein complex subunit 4 1469 159433 8.51 0 Nucleoplasm;Nucleus membrane;Nucleus NA Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box. NA NA RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 3 Promoter;RNA polymerase II transcribes snRNA genes PE1 9 +NX_Q5SXM8 DNL-type zinc finger protein 178 19204 9.88 0 Nucleoplasm;Mitochondrion NA May function as a co-chaperone towards HSPA9/mortalin which, by itself, is prone to self-aggregation. NA NA NA PE1 9 +NX_Q5SY13 Putative uncharacterized protein encoded by COL5A1-AS1 56 6588 10.35 0 NA NA NA NA NA NA PE5 9 +NX_Q5SY16 Polynucleotide 5'-hydroxyl-kinase NOL9 702 79323 9.3 0 Nucleus;Nucleolus;Cytoskeleton NA Polynucleotide 5'-kinase involved in rRNA processing. The kinase activity is required for the processing of the 32S precursor into 5.8S and 28S rRNAs, more specifically for the generation of the major 5.8S(S) form. In vitro, has both DNA and RNA 5'-kinase activities. Probably binds RNA. NA Belongs to the Clp1 family. NOL9/GRC3 subfamily. Major pathway of rRNA processing in the nucleolus and cytosol PE1 1 +NX_Q5SY68 Protein S100-A7-like 2 101 11302 4.99 0 NA NA NA NA Belongs to the S-100 family. NA PE1 1 +NX_Q5SY80 Cation channel sperm-associated protein subunit epsilon 951 109662 6.86 1 Flagellum membrane NA Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. NA Belongs to the CATSPERD family. NA PE1 1 +NX_Q5SY85 Protein FAM201A 155 16478 9.12 0 NA NA NA NA NA NA PE4 9 +NX_Q5SYB0 FERM and PDZ domain-containing protein 1 1578 173437 5.14 0 Cytosol;Cell membrane NA Stabilizes membrane-bound GPSM1, and thereby promotes its interaction with GNAI1. NA NA NA PE1 9 +NX_Q5SYC1 Clavesin-2 327 38000 5.8 0 Early endosome membrane;Clathrin-coated vesicle;trans-Golgi network membrane NA Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). NA NA Lysosome Vesicle Biogenesis PE1 6 +NX_Q5SYE7 NHS-like protein 1 1610 170668 6.52 0 Nucleoplasm;Nucleus membrane NA NA NA Belongs to the NHS family. NA PE1 6 +NX_Q5SZB4 Uncharacterized protein C9orf50 431 47639 10.38 0 NA NA NA NA NA NA PE2 9 +NX_Q5SZD1 Uncharacterized protein C6orf141 244 26754 8.14 0 Nucleus membrane NA NA NA NA NA PE1 6 +NX_Q5SZD4 Glycine N-acyltransferase-like protein 3 288 32704 9.06 0 NA NA Catalyzes the conjugation of long-chain fatty acyl-CoA thioester and glycine to produce long-chain N-(fatty acyl)glycine, an intermediate in the primary fatty acid amide biosynthetic pathway. NA Belongs to the glycine N-acyltransferase family. Lipid metabolism.;Conjugation of salicylate with glycine;Conjugation of benzoate with glycine PE1 6 +NX_Q5SZI1 Low-density lipoprotein receptor class A domain-containing protein 2 272 28581 5.45 1 Membrane NA NA NA Belongs to the LDLR family. NA PE1 1 +NX_Q5SZJ8 BEN domain-containing protein 6 279 31222 8.54 0 Nucleoplasm;Nucleus;Cell membrane NA Acts as a corepressor of recombining binding protein suppressor hairless (RBPJ) and inhibits Notch signaling in neural stem cells, thereby opposing their self-renewal and promoting neurogenesis (PubMed:23571214). NA NA NA PE1 6 +NX_Q5SZK8 FRAS1-related extracellular matrix protein 2 3169 351157 4.89 1 Cytosol;Cell membrane Fraser syndrome 2 Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia. May be required for epidermal adhesion. NA Belongs to the FRAS1 family. NA PE1 13 +NX_Q5SZL2 Centrosomal protein of 85 kDa-like 805 91808 5.98 0 Centrosome NA NA NA Belongs to the CEP85 family. NA PE1 6 +NX_Q5SZQ8 CUGBP Elav-like family member 3 465 50548 8.74 0 Cytoplasm;Nucleoplasm;Nucleus NA RNA-binding protein involved in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA. NA Belongs to the CELF/BRUNOL family. NA PE1 1 +NX_Q5T011 KICSTOR complex protein SZT2 3432 378029 5.85 0 Lysosome membrane;Peroxisome;Nucleoplasm;Cytoplasmic vesicle;Cytoskeleton Epileptic encephalopathy, early infantile, 18 As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose (PubMed:28199306, PubMed:28199315). May play a role in the cellular response to oxidative stress (By similarity). NA NA NA PE1 1 +NX_Q5T013 Putative hydroxypyruvate isomerase 277 30406 5.36 0 Golgi apparatus;Cytosol;Cell membrane NA Catalyzes the reversible isomerization between hydroxypyruvate and 2-hydroxy-3-oxopropanoate (also termed tartronate semialdehyde). NA Belongs to the hyi family. Glyoxylate and dicarboxylate metabolism;Metabolic pathways PE1 1 +NX_Q5T035 Putative uncharacterized protein C9orf129 196 20715 6.78 0 Mitochondrion NA NA NA NA NA PE2 9 +NX_Q5T036 Uncharacterized protein FAM120AOS 256 27929 11.93 0 NA NA NA NA NA NA PE2 9 +NX_Q5T089 MORN repeat-containing protein 1 497 53850 6.64 0 Nucleoplasm;Mitochondrion NA NA NA NA NA PE1 1 +NX_Q5T0B9 Zinc finger protein 362 420 45814 9.7 0 Nucleoplasm;Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 1 +NX_Q5T0D9 Tumor protein p63-regulated gene 1-like protein 272 30212 6.85 0 Presynaptic active zone;Cytosol;Synaptic vesicle membrane;Cytoplasmic vesicle NA Presynaptic protein involved in the synaptic transmission tuning. Regulates synaptic release probability by decreasing the calcium sensitivity of release. Phosphorylated. Phosphorylation promotes association with synaptic vesicle membranes. Belongs to the TPRG1 family. NA PE1 1 +NX_Q5T0F9 Coiled-coil and C2 domain-containing protein 1B 858 94224 5.18 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. NA Belongs to the CC2D1 family. NA PE1 1 +NX_Q5T0J3 Putative uncharacterized protein C1orf220 134 15074 9.92 0 NA NA NA NA NA NA PE2 1 +NX_Q5T0J7 Testis-expressed protein 35 233 26518 9.22 0 Cytoskeleton NA NA NA NA NA PE1 1 +NX_Q5T0L3 Spermatogenesis-associated protein 46 261 29150 7.48 0 Nucleus membrane NA Play a role in spermiogenesis and fertilization. NA NA NA PE1 1 +NX_Q5T0N1 Cilia- and flagella-associated protein 70 1121 125721 5.57 0 Cilium NA NA NA Belongs to the CFAP70 family. NA PE1 10 +NX_Q5T0N5 Formin-binding protein 1-like 605 70065 6.2 0 Cytoplasm;Cell cortex;Cell membrane;Cytoplasmic vesicle;Cytosol;Cytoskeleton NA Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. May bind to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promote membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by activating the WASL/N-WASP-WASPIP/WIP complex, the predominant form of WASL/N-WASP in cells. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Essential for autophagy of intracellular bacterial pathogens. NA Belongs to the FNBP1 family. Clathrin-mediated endocytosis PE1 1 +NX_Q5T0T0 E3 ubiquitin-protein ligase MARCH8 291 32965 8.1 2 Early endosome membrane;Cytoplasmic vesicle membrane;Lysosome membrane NA E3 ubiquitin-protein ligase that mediates ubiquitination of CD86 and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. May also promote ubiquitination and endocytosis of TFRC and FAS. NA NA Protein modification; protein ubiquitination. PE1 10 +NX_Q5T0U0 Coiled-coil domain-containing protein 122 273 32206 6.54 0 Nucleoplasm;Cytoplasmic vesicle NA NA NA NA NA PE1 13 +NX_Q5T0W9 Protein FAM83B 1011 114799 9.04 0 Membrane;Cytoplasm NA Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. May activate both the EGFR itself and downstream RAS/MAPK and PI3K/AKT/TOR signaling cascades. NA Belongs to the FAM83 family. NA PE1 6 +NX_Q5T0Z8 Uncharacterized protein C6orf132 1188 124034 9.48 0 Golgi apparatus;Cytosol NA NA NA NA NA PE1 6 +NX_Q5T124 UBX domain-containing protein 11 520 57373 5.06 0 Cytosol;Nucleolus;Cytoskeleton NA May be involved in the reorganization of actin cytoskeleton mediated by RND1, RND2 AND RND3. Promotes RHOA activation mediated by GNA12 and GNA13 (By similarity). NA NA NA PE1 1 +NX_Q5T160 Probable arginine--tRNA ligase, mitochondrial 578 65505 8.41 0 Mitochondrion matrix Pontocerebellar hypoplasia 6 NA NA Belongs to the class-I aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation PE1 6 +NX_Q5T197 E3 ubiquitin-protein ligase DCST1 706 80712 9.28 6 Cell membrane NA E3 ubiquitin-protein ligase which mediates 'Lys-48'-linked ubiquitination of STAT2 and induces its proteosomal degradation thereby negatively regulating type-I-interferon signaling. NA NA Protein modification; protein ubiquitination. PE1 1 +NX_Q5T1A1 DC-STAMP domain-containing protein 2 773 86230 8.51 6 Membrane NA NA NA NA NA PE1 1 +NX_Q5T1B0 Axonemal dynein light chain domain-containing protein 1 1012 118027 5.49 0 NA NA NA NA NA NA PE1 1 +NX_Q5T1B1 Uncharacterized protein C10orf91 145 15403 6.9 0 NA NA NA NA NA NA PE2 10 +NX_Q5T1C6 Acyl-coenzyme A thioesterase THEM4 240 27130 8.58 0 Cytoplasm;Mitochondrion;Cell membrane;Mitochondrion intermembrane space;Ruffle membrane;Mitochondrion inner membrane NA Has acyl-CoA thioesterase activity towards medium and long-chain (C14 to C18) fatty acyl-CoA substrates, and probably plays a role in mitochondrial fatty acid metabolism. Plays a role in the apoptotic process, possibly via its regulation of AKT1 activity. According to PubMed:11598301, inhibits AKT1 phosphorylation and activity. According to PubMed:17615157, enhances AKT1 activity by favoring its phosphorylation and translocation to plasma membrane. Phosphorylated. Belongs to the THEM4/THEM5 thioesterase family. PIP3 activates AKT signaling;VEGFR2 mediated vascular permeability;CD28 dependent PI3K/Akt signaling;Activation of AKT2;Negative regulation of the PI3K/AKT network;Mitochondrial Fatty Acid Beta-Oxidation PE1 1 +NX_Q5T1H1 Protein eyes shut homolog 3165 350796 5.5 0 Photoreceptor outer segment;Cilium;Centrosome;Cilium axoneme;Interphotoreceptor matrix Retinitis pigmentosa 25 Required to maintain the integrity of photoreceptor cells (PubMed:18836446). Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer segments via the transition zone (By similarity). NA Belongs to the EYS family. NA PE1 6 +NX_Q5T1J5 Putative coiled-coil-helix-coiled-coil-helix domain-containing protein CHCHD2P9, mitochondrial 151 15490 9.95 0 Mitochondrion NA NA NA NA NA PE5 9 +NX_Q5T1J6 Protein FAM182A 154 17173 6.49 0 NA NA NA NA NA NA PE2 20 +NX_Q5T1M5 FK506-binding protein 15 1219 133630 5.11 0 Cytoplasm;Early endosome;Nucleolus;Cytosol;Axon NA May be involved in the cytoskeletal organization of neuronal growth cones. Seems to be inactive as a PPIase (By similarity). Involved in the transport of early endosomes at the level of transition between microfilament-based and microtubule-based movement. NA Belongs to the FKBP-type PPIase family. NA PE1 9 +NX_Q5T1N1 Protein AKNAD1 836 92864 6.36 0 NA NA NA NA Belongs to the AKNA family. NA PE2 1 +NX_Q5T1Q4 Solute carrier family 35 member F1 408 45346 7.04 10 Membrane;Nucleoplasm;Cytosol;Centriolar satellite NA Putative solute transporter. NA Belongs to the SLC35F solute transporter family. NA PE1 6 +NX_Q5T1R4 Transcription factor HIVEP3 2406 259465 7.85 0 Cytoplasm;Nucleoplasm;Nucleus NA Plays a role of transcription factor; binds to recognition signal sequences (Rss heptamer) for somatic recombination of immunoglobulin and T-cell receptor gene segments; Binds also to the kappa-B motif of gene such as S100A4, involved in cell progression and differentiation. Kappa-B motif is a gene regulatory element found in promoters and enhancers of genes involved in immunity, inflammation, and growth and that responds to viral antigens, mitogens, and cytokines. Involvement of HIVEP3 in cell growth is strengthened by the fact that its down-regulation promotes cell cycle progression with ultimate formation of multinucleated giant cells. Strongly inhibits TNF-alpha-induced NF-kappa-B activation; Interferes with nuclear factor NF-kappa-B by several mechanisms: as transcription factor, by competing for Kappa-B motif and by repressing transcription in the nucleus; through a non transcriptional process, by inhibiting nuclear translocation of RELA by association with TRAF2, an adapter molecule in the tumor necrosis factor signaling, which blocks the formation of IKK complex. Interaction with TRAF proteins inhibits both NF-Kappa-B-mediated and c-Jun N-terminal kinase/JNK-mediated responses that include apoptosis and proinflammatory cytokine gene expression. Positively regulates the expression of IL2 in T-cell. Essential regulator of adult bone formation. Phosphorylated on threonine and serine residues. NA Regulation of RUNX2 expression and activity PE1 1 +NX_Q5T1S8 Noncompact myelin-associated protein 102 11082 9.86 1 Cell membrane NA Plays a role in myelin formation. Glycosylated. NA NA PE2 1 +NX_Q5T1V6 Probable ATP-dependent RNA helicase DDX59 619 68810 7.18 0 Cytoplasm;Nucleoplasm;Nucleus;Cytoskeleton Orofaciodigital syndrome 5 NA NA Belongs to the DEAD box helicase family. DDX59 subfamily. NA PE1 1 +NX_Q5T200 Zinc finger CCCH domain-containing protein 13 1668 196635 9.45 0 Nucleoplasm;Nucleus speckle;Nucleus membrane;Cytoskeleton NA Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:29507755). Acts as a key regulator of m6A methylation by promoting m6A methylation of mRNAs at the 3'-UTR (By similarity). Controls embryonic stem cells (ESCs) pluripotency via its role in m6A methylation (By similarity). In the WMM complex, anchors component of the MACOM subcomplex in the nucleus (By similarity). Also required for bridging WTAP to the RNA-binding component RBM15 (RBM15 or RBM15B) (By similarity). NA Belongs to the ZC3H13 family. NA PE1 13 +NX_Q5T215 Trafficking protein particle complex subunit 3-like protein 181 20566 8.11 0 cis-Golgi network;Endoplasmic reticulum NA May play a role in vesicular transport from endoplasmic reticulum to Golgi. NA Belongs to the TRAPP small subunits family. BET3 subfamily. NA PE1 6 +NX_Q5T230 Undifferentiated embryonic cell transcription factor 1 341 36439 10.9 0 Nucleus NA Acts as a transcriptional coactivator of ATF2. Phosphorylated. NA NA PE1 10 +NX_Q5T280 Putative methyltransferase C9orf114 376 42009 7.11 0 Spindle;Centrosome;Kinetochore NA Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase (PubMed:20813266, PubMed:25657325). Also involved in chromosome alignment (PubMed:20813266). May promote centrosome maturation probably by recruiting A-kinase anchor protein AKAP9 to centrosomes in early mitosis (PubMed:25657325). Binds specifically to miRNA MIR145 hairpin, regulates MIR145 expression at a postranscriptional level (PubMed:28431233). NA Belongs to the class IV-like SAM-binding methyltransferase superfamily. NA PE1 9 +NX_Q5T292 Transmembrane protein 273 105 11325 9.58 1 Membrane NA NA NA NA NA PE1 10 +NX_Q5T2D2 Trem-like transcript 2 protein 321 35127 9.68 1 Cell membrane NA Cell surface receptor that may play a role in the innate and adaptive immune response. Acts as a counter-receptor for CD276 and interaction with CD276 on T-cells enhances T-cell activation. NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 6 +NX_Q5T2D3 OTU domain-containing protein 3 398 45124 8.47 0 Nucleoplasm;Cytosol;Cytoskeleton NA Deubiquitinating enzyme that hydrolyzes 'Lys-6'- and 'Lys-11'-linked polyubiquitin. Also hydrolyzes heterotypic (mixed and branched) and homotypic chains. NA NA Ovarian tumor domain proteases;Regulation of PTEN stability and activity PE1 1 +NX_Q5T2E6 Armadillo-like helical domain-containing protein 3 689 78710 6.13 1 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the ARMH3 family. NA PE1 10 +NX_Q5T2L2 Putative aldo-keto reductase family 1 member C8 129 14588 5.92 0 Cytoplasm NA NA NA Belongs to the aldo/keto reductase family. NA PE5 10 +NX_Q5T2N8 ATPase family AAA domain-containing protein 3C 411 46380 9.37 0 NA NA NA NA Belongs to the AAA ATPase family. NA PE1 1 +NX_Q5T2Q4 Cyclin-Y-like protein 2 361 41278 6.17 0 NA NA NA NA Belongs to the cyclin family. Cyclin Y subfamily. NA PE3 10 +NX_Q5T2R2 Decaprenyl-diphosphate synthase subunit 1 415 46261 9.17 0 Cytosol;Mitochondrion Coenzyme Q10 deficiency, primary, 2 Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10. NA Belongs to the FPP/GGPP synthase family. Cofactor biosynthesis; ubiquinone biosynthesis.;Terpenoid backbone biosynthesis;Ubiquinol biosynthesis PE1 10 +NX_Q5T2S8 Armadillo repeat-containing protein 4 1044 115679 7.98 0 Cilium axoneme;Cilium basal body Ciliary dyskinesia, primary, 23 Ciliary protein that may be involved in a late step of axonemal outer dynein arm assembly. NA NA NA PE1 10 +NX_Q5T2T1 MAGUK p55 subfamily member 7 576 65524 6.65 0 Adherens junction;Cell junction;Membrane;Nucleoplasm;Tight junction NA Acts as an important adapter that promotes epithelial cell polarity and tight junction formation via its interaction with DLG1. Involved in the assembly of protein complexes at sites of cell-cell contact. NA Belongs to the MAGUK family. NA PE1 10 +NX_Q5T2W1 Na(+)/H(+) exchange regulatory cofactor NHE-RF3 519 57129 5.36 0 Cell membrane;Membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA A scaffold protein that connects plasma membrane proteins and regulatory components, regulating their surface expression in epithelial cells apical domains. May be involved in the coordination of a diverse range of regulatory processes for ion transport and second messenger cascades. In complex with SLC9A3R1, may cluster proteins that are functionally dependent in a mutual fashion and modulate the trafficking and the activity of the associated membrane proteins. May play a role in the cellular mechanisms associated with multidrug resistance through its interaction with ABCC2 and PDZK1IP1. May potentiate the CFTR chloride channel activity. Required for normal cell-surface expression of SCARB1. Plays a role in maintaining normal plasma cholesterol levels via its effects on SCARB1. Plays a role in the normal localization and function of the chloride-anion exchanger SLC26A6 to the plasma membrane in the brush border of the proximal tubule of the kidney. May be involved in the regulation of proximal tubular Na(+)-dependent inorganic phosphate cotransport therefore playing an important role in tubule function (By similarity). NA Belongs to the NHER family. NA PE1 1 +NX_Q5T319 Protein FAM182B 152 15775 6.04 0 NA NA NA NA NA NA PE2 20 +NX_Q5T3F8 CSC1-like protein 2 832 94958 7.23 10 Membrane;Cell membrane;Cytoskeleton NA Acts as an osmosensitive calcium-permeable cation channel. NA Belongs to the CSC1 (TC 1.A.17) family. NA PE1 6 +NX_Q5T3I0 G patch domain-containing protein 4 446 50381 9.64 0 Nucleoplasm;Nucleolus NA NA NA NA NA PE1 1 +NX_Q5T3J3 Ligand-dependent nuclear receptor-interacting factor 1 769 84568 9.72 0 Nucleoplasm;Nucleus matrix;Centriolar satellite;Chromosome NA Together with SMCHD1, involved in chromosome X inactivation in females by promoting the compaction of heterochromatin (PubMed:23542155). Also able to repress the ligand-induced transcriptional activity of retinoic acid receptor alpha (RARA), possibly through direct recruitment of histone deacetylases (PubMed:17455211). NA Belongs to the LRIF1 family. NA PE1 1 +NX_Q5T3U5 Multidrug resistance-associated protein 7 1492 161629 6.64 17 Cell membrane NA ATP-dependent transporter probably involved in cellular detoxification through lipophilic anion extrusion. NA Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. ABC transporters;ABC-family proteins mediated transport PE1 6 +NX_Q5T3Y7 Putative uncharacterized protein BVES-AS1 98 11178 9.18 0 NA NA NA NA NA NA PE5 6 +NX_Q5T440 Putative transferase CAF17, mitochondrial 356 38155 9.88 0 Mitochondrion Spastic paraplegia 74, autosomal recessive;Multiple mitochondrial dysfunctions syndrome 3 Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. NA Belongs to the GcvT family. CAF17 subfamily. NA PE1 1 +NX_Q5T442 Gap junction gamma-2 protein 439 47002 7.56 4 Cytosol;Gap junction;Cell membrane Lymphatic malformation 3;Leukodystrophy, hypomyelinating, 2;Spastic paraplegia 44, autosomal recessive One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a role in myelination in central and peripheral nervous systems. NA Belongs to the connexin family. Gamma-type subfamily. Gap junction assembly PE1 1 +NX_Q5T447 E3 ubiquitin-protein ligase HECTD3 861 97113 5.47 0 Perinuclear region NA E3 ubiquitin ligases accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of TRIOBP and its subsequent proteasomal degradation, thus facilitating cell cycle progression by regulating the turn-over of TRIOBP. Mediates also ubiquitination of STX8 (By similarity). NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 1 +NX_Q5T481 RNA-binding protein 20 1227 134357 5.48 0 Golgi apparatus;Nucleolus;Nucleoplasm;Nucleus;Cytoskeleton Cardiomyopathy, dilated 1DD RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes involved in cardiac development. Regulates splicing of TTN (Titin). NA NA NA PE1 10 +NX_Q5T4B2 Inactive glycosyltransferase 25 family member 3 595 67592 5.7 0 Nucleoplasm;Endoplasmic reticulum lumen;Cell junction;Nucleolus NA Probable cell adhesion protein involved in leukocyte transmigration across the blood-brain barrier. Does not express any beta-galactosyltransferase activity in vitro. NA Belongs to the glycosyltransferase 25 family. NA PE1 9 +NX_Q5T4D3 Protein O-mannosyl-transferase TMTC4 741 82991 9.11 12 Membrane;Cytoplasmic vesicle;Endoplasmic reticulum NA Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3. NA Belongs to the TMTC family. Protein modification; protein glycosylation. PE1 13 +NX_Q5T4F4 Protrudin 411 45843 5.09 2 Endoplasmic reticulum membrane;Growth cone membrane;Nucleoplasm;Recycling endosome membrane;Cytoplasmic vesicle;Cytosol Spastic paraplegia 33, autosomal dominant Key regulator of RAB11-dependent vesicular trafficking during neurite extension through polarized membrane transport (PubMed:17082457). Promotes axonal elongation and contributes to the establishment of neuronal cell polarity (By similarity). Involved in nerve growth factor-induced neurite formation in VAPA-dependent manner (PubMed:19289470). Contributes to both the formation and stabilization of the tubular ER network (PubMed:24668814). Involved in ER morphogenesis by regulating the sheet-to-tubule balance and possibly the density of tubule interconnections (PubMed:23969831). Acts as an adapter protein and facilitates the interaction of KIF5A with VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 and the ZFYVE27-KIF5A complex contributes to the transport of these proteins in neurons. Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a KIF5A/B-dependent manner (PubMed:21976701). Phosphorylated. Phosphorylation is induced by NGF through the MAPK/ERK pathway and modulates interaction with RAB11A. NA NA PE1 10 +NX_Q5T4F7 Secreted frizzled-related protein 5 317 35563 8.88 0 Secreted NA Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP5 may be involved in determining the polarity of photoreceptor, and perhaps, other cells in the retina. NA Belongs to the secreted frizzled-related protein (sFRP) family. Wnt signaling pathway PE1 10 +NX_Q5T4H9 Protein CASC10 136 14851 11.17 0 Nucleoplasm NA NA NA NA NA PE2 10 +NX_Q5T4I8 Putative uncharacterized protein C6orf52 152 17383 4.52 0 Nucleus speckle;Cytoskeleton NA NA NA NA NA PE2 6 +NX_Q5T4S7 E3 ubiquitin-protein ligase UBR4 5183 573841 5.7 2 Cytoplasm;Membrane;Nucleoplasm;Centrosome;Cytosol;Nucleus;Cytoskeleton NA E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. Together with clathrin, forms meshwork structures involved in membrane morphogenesis and cytoskeletal organization. Regulates integrin-mediated signaling. May play a role in activation of FAK in response to cell-matrix interactions. Mediates ubiquitination of ACLY, leading to its subsequent degradation. NA Belongs to the UBR4 family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neutrophil degranulation PE1 1 +NX_Q5T4T1 Transmembrane protein 170B 132 14360 10.4 3 Centrosome;Cell membrane NA Negatively regulates the canonical Wnt signaling in breast cancer cells. Exerts an inhibitory effect on breast cancer growth by inhibiting CTNNB1 stabilization and nucleus translocation, which reduces the activity of Wnt targets (PubMed:29367600). NA Belongs to the TMEM170 family. NA PE1 6 +NX_Q5T4T6 Synaptonemal complex protein 2-like 812 93599 5.57 0 Nucleoplasm;Centromere;Nucleus NA Oocyte-specific protein that localizes to centromeres at the dictyate stage and regulates the survival of primordial oocytes. NA Belongs to the SYCP2 family. NA PE1 6 +NX_Q5T4W7 Artemin 220 22878 11.7 0 Secreted NA Ligand for the GFR-alpha-3-RET receptor complex but can also activate the GFR-alpha-1-RET receptor complex. Supports the survival of sensory and sympathetic peripheral neurons in culture and also supports the survival of dopaminergic neurons of the ventral mid-brain. Strong attractant of gut hematopoietic cells thus promoting the formation Peyer's patch-like structures, a major component of the gut-associated lymphoid tissue. NA Belongs to the TGF-beta family. GDNF subfamily. RAF/MAP kinase cascade;NCAM1 interactions;RET signaling PE1 1 +NX_Q5T5A4 Protein C1orf194 169 19350 9.27 0 Cytoplasm;Cytosol;Nucleus speckle;Cytoskeleton NA May play an important role for the maintenance of myelin-axon integrity (By similarity). May affect intracellular Ca(2+) homeostasis (PubMed:31199454). NA NA NA PE1 1 +NX_Q5T5A8 Late cornified envelope protein 3C 94 9729 8.73 0 NA NA A structural component of the cornified envelope of the stratum corneum involved in innate cutaneous host defense (Probable). Possesses defensin-like antimicrobial activity against a broad spectrum of Gram-positive and Gram-negative bacteria, both aerobic and anaerobic species. Upon inflammation, may regulate skin barrier repair by shaping cutaneous microbiota composition and immune response to bacterial antigens (PubMed:28634035). NA Belongs to the LCE family. Formation of the cornified envelope PE1 1 +NX_Q5T5B0 Late cornified envelope protein 3E 92 9507 9.07 0 NA NA Precursors of the cornified envelope of the stratum corneum. NA Belongs to the LCE family. Formation of the cornified envelope PE1 1 +NX_Q5T5C0 Syntaxin-binding protein 5 1151 127573 6.96 0 Cytoplasm;Cell membrane;Cytoplasmic vesicle membrane;Synapse;Cytosol;Synaptic vesicle NA Plays a regulatory role in calcium-dependent exocytosis and neurotransmitter release. Inhibits membrane fusion between transport vesicles and the plasma membrane. May modulate the assembly of trans-SNARE complexes between transport vesicles and the plasma membrane. Inhibits translocation of GLUT4 from intracellular vesicles to the plasma membrane. Competes with STXBP1 for STX1 binding (By similarity). NA Belongs to the WD repeat L(2)GL family. NA PE1 6 +NX_Q5T5D7 Zinc finger protein 684 378 43945 9.06 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 1 +NX_Q5T5F5 Uncharacterized protein ADAMTSL4-AS1 129 14090 11.14 0 NA NA NA NA NA NA PE2 1 +NX_Q5T5J6 Transcriptional protein SWT1 900 103222 8.98 0 Cytosol NA NA NA Belongs to the SWT1 family. NA PE1 1 +NX_Q5T5M9 Cyclin-J 372 42581 6.75 0 Golgi apparatus;Nucleoplasm NA NA NA Belongs to the cyclin family. NA PE1 10 +NX_Q5T5N4 Uncharacterized protein C6orf118 469 53772 8.61 0 Mitochondrion NA NA NA NA NA PE1 6 +NX_Q5T5P2 Sickle tail protein homolog 1943 214116 6.59 0 Nucleoplasm;Cytosol;Cytoplasm NA Required for normal development of intervertebral disks. NA NA NA PE1 10 +NX_Q5T5S1 Coiled-coil domain-containing protein 183 534 62689 8.93 0 NA NA NA NA NA NA PE1 9 +NX_Q5T5U3 Rho GTPase-activating protein 21 1958 217462 7.85 0 Cell membrane;Cell junction;Cytoplasmic vesicle membrane;Golgi apparatus membrane;Cytoskeleton NA Functions as a GTPase-activating protein (GAP) for RHOA and CDC42. Downstream partner of ARF1 which may control Golgi apparatus structure and function. Also required for CTNNA1 recruitment to adherens junctions. Sumoylated with SUMO2 and SUMO3 in proliferating lymphocytes. NA Rho GTPase cycle PE1 10 +NX_Q5T5X7 BEN domain-containing protein 3 828 94475 5.29 0 Nucleoplasm;Nucleus;Nucleolus NA Transcriptional repressor which associates with the NoRC (nucleolar remodeling complex) complex and plays a key role in repressing rDNA transcription. The sumoylated form modulates the stability of the NoRC complex component BAZ2A/TIP5 by controlling its USP21-mediated deubiquitination (PubMed:21914818, PubMed:26100909). Binds to unmethylated major satellite DNA and is involved in the recruitment of the Polycomb repressive complex 2 (PRC2) to major satellites (By similarity). Stimulates the ERCC6L translocase and ATPase activities (PubMed:28977671). Sumoylated at Lys-20 by SUMO1 and at Lys-512 by SUMO1, SUMO2 and SUMO3. Sumoylation probably occurs sequentially, with that of Lys-20 preceding that of Lys-512. It does not alter association with heterochromatin, but is required for the repression of transcription. NA NA PE1 6 +NX_Q5T5Y3 Calmodulin-regulated spectrin-associated protein 1 1602 177972 6.28 0 Cytosol;Spindle;Cytoskeleton NA Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19508979, PubMed:21834987, PubMed:24486153, PubMed:24706919, PubMed:24117850). Specifically recognizes growing microtubule minus-ends and stabilizes microtubules (PubMed:24486153, PubMed:24706919). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153, PubMed:24706919). In contrast to CAMSAP2 and CAMSAP3, tracks along the growing tips of minus-end microtubules without significantly affecting the polymerization rate: binds at the very tip of the microtubules minus-end and acts as a minus-end tracking protein (-TIP) that dissociates from microtubules after allowing tubulin incorporation (PubMed:24486153, PubMed:24706919). Through interaction with spectrin may regulate neurite outgrowth (PubMed:24117850). NA Belongs to the CAMSAP1 family. NA PE1 9 +NX_Q5T601 Adhesion G-protein coupled receptor F1 910 101365 8.91 7 Secreted;Cell membrane NA Orphan receptor. Glycosylated. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE1 6 +NX_Q5T619 Zinc finger protein 648 568 62341 8.97 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 1 +NX_Q5T653 39S ribosomal protein L2, mitochondrial 305 33301 11.29 0 Nucleoplasm;Mitochondrion NA NA NA Belongs to the universal ribosomal protein uL2 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 6 +NX_Q5T655 Cilia- and flagella-associated protein 58 872 103417 8.44 0 Cytoplasmic vesicle;Cytosol;Cilium;Cell membrane NA NA NA Belongs to the CFAP58 family. NA PE1 10 +NX_Q5T681 Uncharacterized protein C10orf62 223 25128 7.08 0 NA NA NA NA NA NA PE1 10 +NX_Q5T686 Arginine vasopressin-induced protein 1 147 16773 10.84 0 Nucleoplasm;Cell membrane NA May be involved in MAP kinase activation, epithelial sodium channel (ENaC) down-regulation and cell cycling. NA NA NA PE1 10 +NX_Q5T6C5 Ataxin-7-like protein 2 722 77181 9.4 0 Cytoplasmic vesicle;Cytosol;Nucleolus NA NA NA NA NA PE1 1 +NX_Q5T6F0 DDB1- and CUL4-associated factor 12 453 50517 9.23 0 Cytoplasm;Centrosome NA May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. NA Belongs to the WD repeat DCAF12 family. Protein modification; protein ubiquitination. PE1 9 +NX_Q5T6F2 Ubiquitin-associated protein 2 1119 117116 6.89 0 Cytosol NA NA NA NA NA PE1 9 +NX_Q5T6J7 Probable gluconokinase 187 20578 5.84 0 Cytosol;Mitochondrion NA NA NA Belongs to the gluconokinase GntK/GntV family. Carbohydrate acid metabolism; D-gluconate degradation. PE1 9 +NX_Q5T6L9 Endoplasmic reticulum membrane-associated RNA degradation protein 678 77788 6.28 2 Cytosol;Endoplasmic reticulum membrane Periventricular nodular heterotopia 6 May play a role in neuronal migration during embryonic development. NA NA NA PE1 6 +NX_Q5T6M2 Putative uncharacterized protein encoded by LINC00242 205 23040 11.95 0 NA NA NA NA NA NA PE5 6 +NX_Q5T6R2 Putative phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2P1 138 15541 6.89 0 NA NA NA NA NA NA PE5 13 +NX_Q5T6S3 PHD finger protein 19 580 65591 9.08 0 Nucleus NA Inhibit transcription from an HSV-tk promoter.;Polycomb group (PcG) that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex. Probably involved in the transition from an active state to a repressed state in embryonic stem cells: acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting H3K36me3 histone demethylases RIOX1 or KDM2B, leading to demethylation of H3K36 and recruitment of the PRC2 complex that mediates H3K27me3 methylation, followed by de novo silencing. Recruits the PRC2 complex to CpG islands and contributes to embryonic stem cell self-renewal. Also binds dimethylated at 'Lys-36' (H3K36me2). NA Belongs to the Polycomblike family. PRC2 methylates histones and DNA PE1 9 +NX_Q5T6V5 Queuosine salvage protein 341 39029 5.61 0 Golgi apparatus NA Involved in salvaging queuosine. NA Belongs to the queuosine salvage protein family. NA PE1 9 +NX_Q5T6X4 Protein FAM162B 162 17685 10.77 1 Membrane NA NA NA Belongs to the UPF0389 family. NA PE1 6 +NX_Q5T6X5 G-protein coupled receptor family C group 6 member A 926 104753 8.29 7 Cell membrane NA Receptor activated by amino acids with a preference for basic amino acids such as L-Lys, L-Arg and L-ornithine but also by small and polar amino acids. The L-alpha amino acids respond is augmented by divalent cations Ca(2+) and Mg(2+). Activated by extracellular calcium and osteocalcin. Seems to act through a G(q)/G(11) and G(i)-coupled pathway. Mediates the non-genomic effects of androgens in multiple tissue. May coordinate nutritional and hormonal anabolic signals through the sensing of extracellular amino acids, osteocalcin, divalent ions and its responsiveness to anabolic steroids. N-glycosylated. Belongs to the G-protein coupled receptor 3 family. G alpha (q) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 6 +NX_Q5T700 Low-density lipoprotein receptor class A domain-containing protein 1 205 21834 5.33 1 Membrane;Golgi apparatus;Nucleoplasm NA NA NA Belongs to the LDLR family. NA PE1 1 +NX_Q5T742 Uncharacterized protein C10orf25 122 14441 10.26 0 Secreted NA NA NA NA NA PE2 10 +NX_Q5T749 Keratinocyte proline-rich protein 579 64136 8.72 0 Cytoplasm NA NA NA NA NA PE1 1 +NX_Q5T750 Skin-specific protein 32 250 26238 8.41 0 NA NA NA NA NA NA PE1 1 +NX_Q5T751 Late cornified envelope protein 1C 118 11543 8.83 0 NA NA Precursors of the cornified envelope of the stratum corneum. NA Belongs to the LCE family. Formation of the cornified envelope PE2 1 +NX_Q5T752 Late cornified envelope protein 1D 114 11230 8.82 0 NA NA Precursors of the cornified envelope of the stratum corneum. NA Belongs to the LCE family. Formation of the cornified envelope PE1 1 +NX_Q5T753 Late cornified envelope protein 1E 118 11616 8.71 0 NA NA Precursors of the cornified envelope of the stratum corneum. NA Belongs to the LCE family. Formation of the cornified envelope PE1 1 +NX_Q5T754 Late cornified envelope protein 1F 118 11654 8.83 0 NA NA Precursors of the cornified envelope of the stratum corneum. NA Belongs to the LCE family. Formation of the cornified envelope PE1 1 +NX_Q5T764 Interferon-induced protein with tetratricopeptide repeats 1B 474 54993 7.62 0 NA NA NA NA Belongs to the IFIT family. Hepatitis C;Herpes simplex infection PE1 10 +NX_Q5T7B8 Kinesin-like protein KIF24 1368 151903 6.69 0 Centriole NA Microtubule-dependent motor protein that acts as a negative regulator of ciliogenesis by mediating recruitment of CCP110 to mother centriole in cycling cells, leading to restrict nucleation of cilia at centrioles. Mediates depolymerization of microtubules of centriolar origin, possibly to suppress aberrant cilia formation (PubMed:21620453). Following activation by NEK2 involved in disassembly of primary cilium during G2/M phase but does not disassemble fully formed ciliary axonemes. As cilium assembly and disassembly is proposed to coexist in a dynamic equilibrium may suppress nascent cilium assembly and, potentially, ciliar re-assembly in cells that have already disassembled their cilia ensuring the completion of cilium removal in the later stages of the cell cycle (PubMed:26290419). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Anchoring of the basal body to the plasma membrane PE1 9 +NX_Q5T7M4 Adipolin 302 32416 9.41 0 Cytoplasmic vesicle;Secreted NA Insulin-sensitizing adipocyte-secreted protein (adipokine) that regulates glucose metabolism in liver and adipose tissue. Promotes glucose uptake in adipocytes and suppresses de novo glucose production in hepatocytes via the PI3K-Akt signaling pathway. Administration lead to reduction of blood glucose. Able to attenuate inflammation in fat tissue. Processed into Adipolin fC1QTNF12 and Adipolin gC1QTNF12 by FURIN. Insulin enhances endogenous C1QTNF12 cleavage. Belongs to the adipolin/erythroferrone family. NA PE1 1 +NX_Q5T7M9 Divergent protein kinase domain 1A 428 49024 6.92 1 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane NA NA Among the many cysteines in the lumenal domain, most are probably involved in disulfide bonds. Belongs to the DIPK family. NA PE1 1 +NX_Q5T7N2 LINE-1 type transposase domain-containing protein 1 865 98850 4.87 0 NA NA NA NA Belongs to the transposase 22 family. NA PE1 1 +NX_Q5T7N3 KN motif and ankyrin repeat domain-containing protein 4 995 107342 5.15 0 Cytoplasm;Cytosol;Cytoskeleton NA May be involved in the control of cytoskeleton formation by regulating actin polymerization. NA NA NA PE1 1 +NX_Q5T7N8 Protein FAM27D1 215 24905 11.93 0 NA NA NA NA Belongs to the FAM27 family. NA PE3 9 +NX_Q5T7P2 Late cornified envelope protein 1A 110 10982 8.84 0 NA NA Precursors of the cornified envelope of the stratum corneum. NA Belongs to the LCE family. Formation of the cornified envelope PE1 1 +NX_Q5T7P3 Late cornified envelope protein 1B 118 11626 8.83 0 NA NA Precursors of the cornified envelope of the stratum corneum. NA Belongs to the LCE family. Formation of the cornified envelope PE1 1 +NX_Q5T7P6 Transmembrane protein 78 136 15193 4.87 2 Membrane NA NA NA NA NA PE2 1 +NX_Q5T7P8 Synaptotagmin-6 510 57325 8.47 1 Cell membrane;Membrane;Synaptic vesicle membrane;Cytoplasmic vesicle;Cytosol NA May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. May mediate Ca(2+)-regulation of exocytosis in acrosomal reaction in sperm (By similarity). NA Belongs to the synaptotagmin family. NA PE1 1 +NX_Q5T7R7 Uncharacterized protein C1orf185 199 22411 7.67 1 Membrane NA NA NA NA NA PE1 1 +NX_Q5T7V8 RAB6-interacting golgin 394 44993 6.66 0 Golgi apparatus;Cytoplasm;Nucleolus;Nucleoplasm;Cytosol Geroderma osteodysplasticum NA NA Belongs to the GORAB family. NA PE1 1 +NX_Q5T7W0 Zinc finger protein 618 954 104956 6.7 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 9 +NX_Q5T7W7 Thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 2 516 58263 6.89 0 Nucleoplasm NA NA NA NA NA PE1 9 +NX_Q5T848 Probable G-protein coupled receptor 158 1215 135489 8.57 7 Cytosol;Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 3 family. NA PE1 10 +NX_Q5T870 Proline-rich protein 9 116 12904 4.96 0 NA NA NA NA NA NA PE1 1 +NX_Q5T871 Late cornified envelope-like proline-rich protein 1 98 10697 8.44 0 NA NA NA NA Belongs to the cornifin (SPRR) family. Formation of the cornified envelope PE1 1 +NX_Q5T890 DNA excision repair protein ERCC-6-like 2 1561 177127 8.83 0 Mitochondrion;Nucleoplasm;Centrosome;Cytosol;Nucleus Bone marrow failure syndrome 2 May be involved in early DNA damage response. Phosphorylated by NEK6.;ERCC6L2 is phosphorylated by NEK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the SNF2/RAD54 helicase family. NA PE1 9 +NX_Q5T8A7 Protein phosphatase 1 regulatory subunit 26 1209 127351 8.84 0 Nucleoplasm;Nucleolus NA Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. May positively regulate cell proliferation. NA NA NA PE1 9 +NX_Q5T8D3 Acyl-CoA-binding domain-containing protein 5 534 60092 5.19 1 Peroxisome;Peroxisome membrane NA Acyl-CoA binding protein which acts as the peroxisome receptor for pexophagy but is dispensable for aggrephagy and nonselective autophagy. Binds medium- and long-chain acyl-CoA esters. NA Belongs to the ATG37 family. Peroxisomal lipid metabolism;Class I peroxisomal membrane protein import PE1 10 +NX_Q5T8I3 Protein FAM102B 360 39308 6.62 0 Cytosol;Nucleolus NA NA NA Belongs to the FAM102 family. NA PE1 1 +NX_Q5T8I9 Small RNA 2'-O-methyltransferase 393 44525 5.16 0 Cytoplasm;Focal adhesion;Cell membrane NA Methyltransferase that adds a 2'-O-methyl group at the 3'-end of piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. This probably protects the 3'-end of piRNAs from uridylation activity and subsequent degradation. Stabilization of piRNAs is essential for gametogenesis. NA Belongs to the methyltransferase superfamily. HEN1 family. PIWI-interacting RNA (piRNA) biogenesis PE1 1 +NX_Q5T8P6 RNA-binding protein 26 1007 113597 9.21 0 Nucleus speckle NA NA NA NA NA PE1 13 +NX_Q5T8R8 Uncharacterized protein C9orf66 295 31184 11.77 0 NA NA NA NA NA NA PE1 9 +NX_Q5T953 Immediate early response gene 5-like protein 404 42109 6.45 0 Nucleoplasm NA NA NA Belongs to the IER family. NA PE1 9 +NX_Q5T9A4 ATPase family AAA domain-containing protein 3B 648 72573 9.3 0 Mitochondrion inner membrane NA May play a role in a mitochondrial network organization typical for stem cells, characterized by reduced mitochondrial metabolism, low mtDNA copies and fragmentated mitochondrial network. May act by suppressing ATAD3A function, interfering with ATAD3A interaction with matrix nucleoid complexes. NA Belongs to the AAA ATPase family. Neutrophil degranulation PE1 1 +NX_Q5T9C2 Protein FAM102A 384 41785 8.83 0 Cytosol NA May play a role in estrogen action. NA Belongs to the FAM102 family. NA PE1 9 +NX_Q5T9C9 Phosphatidylinositol 4-phosphate 5-kinase-like protein 1 394 44572 9.63 0 Membrane;Cytoplasm;Cytosol NA May act as a scaffold to localize and regulate type I PI(4)P 5-kinases to specific compartments within the cell, where they generate PI(4,5)P2 for actin nucleation, signaling and scaffold protein recruitment and conversion to PI(3,4,5)P3. NA NA Inositol phosphate metabolism;Metabolic pathways;Endocytosis PE1 9 +NX_Q5T9G4 Armadillo repeat-containing protein 12 340 38632 8.02 0 Nucleoplasm;Cell membrane NA NA NA NA NA PE1 6 +NX_Q5T9L3 Protein wntless homolog 541 62253 6.98 7 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum;Cytoplasmic vesicle membrane;Golgi apparatus membrane;Early endosome membrane;Cytosol NA Regulates Wnt proteins sorting and secretion in a feedback regulatory mechanism. This reciprocal interaction plays a key role in the regulation of expression, subcellular location, binding and organelle-specific association of Wnt proteins. Plays also an important role in establishment of the anterior-posterior body axis formation during development (By similarity). NA Belongs to the wntless family. WNT ligand biogenesis and trafficking PE1 1 +NX_Q5T9S5 Coiled-coil domain-containing protein 18 1454 168962 5.52 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 1 +NX_Q5T9Z0 Transmembrane epididymal protein 1 273 31315 8.02 6 Membrane NA NA NA Belongs to the TMEM45 family. NA PE2 1 +NX_Q5TA31 E3 ubiquitin-protein ligase RNF187 235 26190 5.7 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA E3 ubiquitin-protein ligase that acts as a coactivator of JUN-mediated gene activation in response to growth factor signaling via the MAP3K1 pathway, independently from MAPK8. Ubiquitinated; undergoes 'Lys-48'-linked autoubiquitination in the absence of growth factors and MAP3K1-induced 'Lys-63'-linked polyubiquitination (PubMed:20852630). 'Lys-48'-autoubiquitination leads to degradation by the proteasome, while MAP3K1-induced 'Lys-63'-linked polyubiquitination results in the stabilization of the protein (PubMed:20852630). 'Lys-48'- and 'Lys-63'-linked polyubiquitinations occur most probably on the same 3 C-terminal lysine residues (Lys-195, Lys-223 and Lys-224) and are thus mutually exclusive (PubMed:20852630). Other sites of ubiquitination are not excluded (PubMed:20852630). 'Lys-63'-linked polyubiquitination by TRIM7 in response to growth factor signaling via the MEK/ERK pathway enhances protein stability (PubMed:25851810).;Arginine methylation by PRMT1 stabilizes RNF187 by facilitating K63-linked ubiquitin chain formation, and enables dimerization, c-Jun interaction and subsequent AP1 target gene expression. NA Protein modification; protein ubiquitination. PE1 1 +NX_Q5TA45 Integrator complex subunit 11 600 67663 8.27 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Catalytic component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes. Mediates the snRNAs 3' cleavage. Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267). NA Belongs to the metallo-beta-lactamase superfamily. RNA-metabolizing metallo-beta-lactamase-like family. INTS11 subfamily. RNA polymerase II transcribes snRNA genes PE1 1 +NX_Q5TA50 Ceramide-1-phosphate transfer protein 214 24365 6.71 0 Nucleus outer membrane;Cell membrane;Endosome membrane;trans-Golgi network membrane;Cytosol NA Mediates the intracellular transfer of ceramide-1-phosphate (C1P) between organelle membranes and the cell membrane. Required for normal structure of the Golgi stacks. Can bind phosphoceramides with a variety of aliphatic chains, but has a preference for lipids with saturated C16:0 or monounsaturated C18:1 aliphatic chains, and is inefficient with phosphoceramides containing lignoceryl (C24:0). Plays a role in the regulation of the cellular levels of ceramide-1-phosphate, and thereby contributes to the regulation of phospholipase PLA2G4A activity and the release of arachidonic acid. Has no activity with galactosylceramide, lactosylceramide, sphingomyelin, phosphatidylcholine, phosphatidic acid and ceramide. C1P transfer is stimulated by phosphatidylserine in C1P source vesicles (PubMed:28011644). Regulates autophagy, inflammasome mediated IL1B and IL18 processing, and pyroptosis, but not apoptosis (PubMed:29164996). NA Belongs to the GLTP family. Glycosphingolipid metabolism PE1 1 +NX_Q5TA76 Late cornified envelope protein 3A 89 9146 8.81 0 NA NA A structural component of the cornified envelope of the stratum corneum involved in innate cutaneous host defense (Probable). Possesses defensin-like antimicrobial activity against a broad spectrum of Gram-positive and Gram-negative bacteria, both aerobic and anaerobic species. Upon inflammation, may regulate skin barrier repair by shaping cutaneous microbiota composition and immune response to bacterial antigens (PubMed:28634035). NA Belongs to the LCE family. Formation of the cornified envelope PE1 1 +NX_Q5TA77 Late cornified envelope protein 3B 95 9812 8.57 0 NA NA A structural component of the cornified envelope of the stratum corneum involved in innate cutaneous host defense (Probable). Possesses defensin-like antimicrobial activity against a broad spectrum of Gram-positive and Gram-negative bacteria, both aerobic and anaerobic species. Upon inflammation, may regulate skin barrier repair by shaping cutaneous microbiota composition and immune response to bacterial antigens (PubMed:28634035). NA Belongs to the LCE family. Formation of the cornified envelope PE1 1 +NX_Q5TA78 Late cornified envelope protein 4A 99 9980 8.64 0 NA NA Precursors of the cornified envelope of the stratum corneum. NA Belongs to the LCE family. Formation of the cornified envelope PE1 1 +NX_Q5TA79 Late cornified envelope protein 2A 106 10846 8.32 0 NA NA Precursors of the cornified envelope of the stratum corneum. NA Belongs to the LCE family. Formation of the cornified envelope PE1 1 +NX_Q5TA81 Late cornified envelope protein 2C 110 11224 8.56 0 NA NA Precursors of the cornified envelope of the stratum. NA Belongs to the LCE family. Formation of the cornified envelope PE1 1 +NX_Q5TA82 Late cornified envelope protein 2D 110 11180 8.54 0 NA NA Precursors of the cornified envelope of the stratum corneum. NA Belongs to the LCE family. Formation of the cornified envelope PE1 1 +NX_Q5TA89 Transcription factor HES-5 166 18226 9.52 0 Nucleoplasm;Cytosol;Nucleus speckle;Nucleus NA Transcriptional repressor of genes that require a bHLH protein for their transcription. Plays an important role as neurogenesis negative regulator (By similarity). NA NA Notch signaling pathway;NOTCH2 intracellular domain regulates transcription;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;NOTCH3 Intracellular Domain Regulates Transcription;NOTCH4 Intracellular Domain Regulates Transcription PE2 1 +NX_Q5TAA0 Tetratricopeptide repeat protein 22 569 63361 5.29 0 NA NA NA NA NA NA PE1 1 +NX_Q5TAB7 Protein ripply2 128 13906 4.42 0 Nucleus Spondylocostal dysostosis 6, autosomal recessive Plays a role in somitogenesis. Required for somite segregation and establishment of rostrocaudal polarity in somites (By similarity). NA Belongs to the ripply family. NA PE1 6 +NX_Q5TAG4 Neuroblastoma breakpoint family member 12 1457 167689 4.75 0 Cytoplasm NA NA NA Belongs to the NBPF family. NA PE2 1 +NX_Q5TAH2 Sodium/hydrogen exchanger 11 1124 129053 6.5 15 Membrane NA Involved in pH regulation. NA Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. Stimuli-sensing channels PE1 1 +NX_Q5TAP6 U3 small nucleolar RNA-associated protein 14 homolog C 766 87188 6.7 0 Nucleolus NA Essential for spermatogenesis. May be required specifically for ribosome biogenesis and hence protein synthesis during male meiosis (By similarity). NA Belongs to the UTP14 family. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 13 +NX_Q5TAQ9 DDB1- and CUL4-associated factor 8 597 66852 5.21 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cytosol;Nucleus Giant axonal neuropathy 2, autosomal dominant May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. NA Belongs to the WD repeat DCAF8 family. Protein modification; protein ubiquitination.;Neddylation PE1 1 +NX_Q5TAT6 Collagen alpha-1(XIII) chain 717 69950 9.27 1 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 19 Involved in cell-matrix and cell-cell adhesion interactions that are required for normal development. May participate in the linkage between muscle fiber and basement membrane. May play a role in endochondral ossification of bone and branching morphogenesis of lung. Binds heparin. At neuromuscular junctions, may play a role in acetylcholine receptor clustering (PubMed:26626625). NA NA Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;Collagen chain trimerization PE1 10 +NX_Q5TAX3 Terminal uridylyltransferase 4 1644 185166 8.3 0 Cytoplasm;Nucleolus;Cytoplasmic ribonucleoprotein granule;Cytosol;Nucleus NA Uridylyltransferase that mediates the terminal uridylation of mRNAs with short (less than 25 nucleotides) poly(A) tails, hence facilitating global mRNA decay (PubMed:25480299, PubMed:31036859). Essential for both oocyte maturation and fertility. Through 3' terminal uridylation of mRNA, sculpts, with TUT7, the maternal transcriptome by eliminating transcripts during oocyte growth (By similarity). Involved in microRNA (miRNA)-induced gene silencing through uridylation of deadenylated miRNA targets. Also functions as an integral regulator of microRNA biogenesis using 3 different uridylation mechanisms (PubMed:25979828). Acts as a suppressor of miRNA biogenesis by mediating the terminal uridylation of some miRNA precursors, including that of let-7 (pre-let-7), miR107, miR-143 and miR-200c. Uridylated miRNAs are not processed by Dicer and undergo degradation. Degradation of pre-let-7 contributes to the maintenance of embryonic stem (ES) cell pluripotency (By similarity). Also catalyzes the 3' uridylation of miR-26A, a miRNA that targets IL6 transcript. This abrogates the silencing of IL6 transcript, hence promoting cytokine expression (PubMed:19703396). In the absence of LIN28A, TUT7 and TUT4 monouridylate group II pre-miRNAs, which includes most of pre-let7 members, that shapes an optimal 3' end overhang for efficient processing (PubMed:25979828). Adds oligo-U tails to truncated pre-miRNAS with a 5' overhang which may promote rapid degradation of non-functional pre-miRNA species (PubMed:25979828). May also suppress Toll-like receptor-induced NF-kappa-B activation via binding to T2BP (PubMed:16643855). Does not play a role in replication-dependent histone mRNA degradation (PubMed:18172165). Due to functional redundancy between TUT4 and TUT7, the identification of the specific role of each of these proteins is difficult (PubMed:25979828, PubMed:25480299, PubMed:16643855, PubMed:19703396, PubMed:18172165) (By similarity). TUT4 and TUT7 restrict retrotransposition of long interspersed element-1 (LINE-1) in cooperation with MOV10 counteracting the RNA chaperonne activity of L1RE1. TUT7 uridylates LINE-1 mRNAs in the cytoplasm which inhibits initiation of reverse transcription once in the nucleus, whereas uridylation by TUT4 destabilizes mRNAs in cytoplasmic ribonucleoprotein granules (PubMed:30122351). NA Belongs to the DNA polymerase type-B-like family. Deadenylation of mRNA PE1 1 +NX_Q5TB30 DEP domain-containing protein 1A 811 92960 8.91 0 Nucleoplasm;Nucleus;Nucleolus NA May be involved in transcriptional regulation as a transcriptional corepressor. The DEPDC1A-ZNF224 complex may play a critical role in bladder carcinogenesis by repressing the transcription of the A20 gene, leading to transport of NF-KB protein into the nucleus, resulting in suppression of apoptosis of bladder cancer cells. NA NA NA PE1 1 +NX_Q5TB80 Centrosomal protein of 162 kDa 1403 161943 5.36 0 Cell membrane;Centriole;Cytosol;Spindle;Nucleus NA Required to promote assembly of the transition zone in primary cilia. Acts by specifically recognizing and binding the axonemal microtubule. Localizes to the distal ends of centrioles before ciliogenesis and directly binds to axonemal microtubule, thereby promoting and restricting transition zone formation specifically at the cilia base. Required to mediate CEP290 association with microtubules. NA Belongs to the CEP162 family. Anchoring of the basal body to the plasma membrane PE1 6 +NX_Q5TBA9 Protein furry homolog 3013 338875 5.66 0 Cytoplasm;Spindle pole;Centrosome NA Plays a crucial role in the structural integrity of mitotic centrosomes and in the maintenance of spindle bipolarity by promoting PLK1 activity at the spindle poles in early mitosis. May function as a scaffold promoting the interaction between AURKA and PLK1, thereby enhancing AURKA-mediated PLK1 phosphorylation. Phosphorylated by AURKA, CDK1 and PLK1.;FRY is phosphorylated by AURKA (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the furry protein family. NA PE1 13 +NX_Q5TBB1 Ribonuclease H2 subunit B 312 35139 9.19 0 Nucleoplasm;Nucleus Aicardi-Goutieres syndrome 2 Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes. NA Belongs to the RNase H2 subunit B family. DNA replication PE1 13 +NX_Q5TBC7 Bcl-2-like protein 15 163 17725 4.33 0 NA NA NA NA NA NA PE1 1 +NX_Q5TBE3 Uncharacterized protein C9orf153 101 11254 9.26 0 NA NA NA NA NA NA PE1 9 +NX_Q5TBK1 NEDD4-binding protein 2-like 1 243 28981 10.07 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 13 +NX_Q5TC04 Putative uncharacterized protein ATP1A1-AS1 95 10240 6.05 0 NA NA NA NA NA NA PE5 1 +NX_Q5TC12 ATP synthase mitochondrial F1 complex assembly factor 1 328 36437 8.12 0 Mitochondrion NA May play an essential role for the assembly of the mitochondrial F1-F0 complex. NA Belongs to the ATP11 family. NA PE1 1 +NX_Q5TC63 Growth hormone-regulated TBC protein 1 336 38554 9 0 NA NA May act as a GTPase-activating protein for Rab family protein(s). NA NA NA PE1 13 +NX_Q5TC79 Zinc finger and BTB domain-containing protein 37 503 56055 6.3 0 Nucleoplasm;Nucleus;Nucleolus;Cytosol NA May be involved in transcriptional regulation. NA NA NA PE1 1 +NX_Q5TC82 Roquin-1 1133 125736 6.86 0 Cytosol;P-body;Cytoplasmic granule;Cell membrane NA Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3'-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF, TNFRSF4 and in many more mRNAs (PubMed:25026078). Cleaves translationally inactive mRNAs harboring a stem-loop (SL), often located in their 3'-UTRs, during the early phase of inflammation in a helicase UPF1-independent manner (By similarity). Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs (By similarity). In follicular helper T (Tfh) cells, represses of ICOS and TNFRSF4 expression, thus preventing spontaneous Tfh cell differentiation, germinal center B-cell differentiation in the absence of immunization and autoimmunity (By similarity). In resting or LPS-stimulated macrophages, controls inflammation by suppressing TNF expression (By similarity). Also recognizes CDE in its own mRNA and in that of paralogous RC3H2, possibly leading to feedback loop regulation (By similarity). Recognizes and binds mRNAs containing a hexaloop stem-loop motif, called alternative decay element (ADE) (By similarity). Able to interact with double-stranded RNA (dsRNA) (PubMed:25504471, PubMed:25026078). MiRNA-binding protein that regulates microRNA homeostasis. Enhances DICER-mediated processing of pre-MIR146a but reduces mature MIR146a levels through an increase of 3' end uridylation. Both inhibits ICOS mRNA expression and they may act together to exert the suppression (PubMed:25697406). Acts as a ubiquitin E3 ligase. Pairs with E2 enzymes UBE2A, UBE2B, UBE2D2, UBE2F, UBE2G1, UBE2G2 and UBE2L3 and produces polyubiquitin chains (PubMed:26489670). Show the strongest activity when paired with UBE2N:UBE2V1 or UBE2N:UBE2V2 E2 complexes and generate both short and long polyubiquitin chains (PubMed:26489670). Proteolytically cleaved after Arg-510 and Arg-579 by MALT1 in activated CD4(+) T cells; cleavage at Arg-510 and Arg-579 is critical for promoting RC3H1 degradation in response to T-cell receptor (TCR) stimulation, and hence is necessary for prolonging the stability of a set of mRNAs controlling Th17 cell differentiation. NA Protein modification; protein ubiquitination. PE1 1 +NX_Q5TC84 Opioid growth factor receptor-like protein 1 451 51252 5.81 0 Golgi apparatus;Nucleoplasm NA NA NA Belongs to the opioid growth factor receptor family. NA PE1 6 +NX_Q5TCH4 Cytochrome P450 4A22 519 59246 9.21 0 Microsome membrane;Endoplasmic reticulum membrane NA Catalyzes the omega- and (omega-1)-hydroxylation of various fatty acids such as laurate and palmitate. Shows no activity towards arachidonic acid and prostaglandin A1. Lacks functional activity in the kidney and does not contribute to renal 20-hydroxyeicosatetraenoic acid (20-HETE) biosynthesis. NA Belongs to the cytochrome P450 family. Fatty acid metabolism;Arachidonic acid metabolism;Retinol metabolism;Metabolic pathways;PPAR signaling pathway;Vascular smooth muscle contraction;Miscellaneous substrates;Fatty acids;Eicosanoids;Synthesis of Leukotrienes (LT) and Eoxins (EX) PE1 1 +NX_Q5TCM9 Late cornified envelope protein 5A 118 11795 8.75 0 NA NA Precursors of the cornified envelope of the stratum corneum. NA Belongs to the LCE family. Formation of the cornified envelope PE1 1 +NX_Q5TCQ9 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 1481 162949 8.26 0 Tight junction;Cell junction;Nucleus;Cell membrane NA Acts as a scaffolding protein at cell-cell junctions, thereby regulating various cellular and signaling processes. Cooperates with PTEN to modulate the kinase activity of AKT1. Its interaction with PTPRB and tyrosine phosphorylated proteins suggests that it may link receptor tyrosine phosphatase with its substrates at the plasma membrane. In polarized epithelial cells, involved in efficient trafficking of TGFA to the cell surface. Regulates the ability of LPAR2 to activate ERK and RhoA pathways. Regulates the JNK signaling cascade via its interaction with FZD4 and VANGL2. Ubiquitinated following interaction with HPV E6 protein, leading to its degradation by the proteasome. Degradation is independent of E6AP ubiquitin ligase complex. Belongs to the MAGUK family. Tight junction PE1 1 +NX_Q5TCS8 Adenylate kinase 9 1911 221413 4.96 0 Nucleoplasm;Cytoplasm;Nucleus;Nucleus membrane NA Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Has both nucleoside monophosphate and diphosphate kinase activities. Catalyzes the phosphorylation of AMP, dAMP, CMP and dCMP with ATP as phosphate donor and of CMP with GTP as phosphate donor. Also catalyzes the production of ATP, CTP, GTP, UTP, dATP, dCTP, dGTP and TTP from the corresponding diphosphate substrates with either ATP or GTP as phosphate donor. Shows substrate preference of CDP > UDP > ADP > GDP > TDP. NA Belongs to the adenylate kinase family. Interconversion of nucleotide di- and triphosphates PE1 6 +NX_Q5TCX8 Mitogen-activated protein kinase kinase kinase 21 1036 113957 8.97 0 Cytosol;Cell membrane NA Negative regulator of TLR4 signaling. Does not activate JNK1/MAPK8 pathway, p38/MAPK14, nor ERK2/MAPK1 pathways. Autophosphorylation on serine and threonine residues within the activation loop plays a role in enzyme activation. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. NA PE1 1 +NX_Q5TCY1 Tau-tubulin kinase 1 1321 142737 5.46 0 Nucleoplasm;Cytosol;Cytoplasm NA Serine/threonine kinase which is able to phosphorylate TAU on serine, threonine and tyrosine residues. Induces aggregation of TAU. NA Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. NA PE1 6 +NX_Q5TCZ1 SH3 and PX domain-containing protein 2A 1133 125289 9.01 0 Cytoplasm;Podosome NA Adapter protein involved in invadopodia and podosome formation, extracellular matrix degradation and invasiveness of some cancer cells. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. In association with ADAM12, mediates the neurotoxic effect of amyloid-beta peptide. Tyrosine phosphorylated by SRC. Phosphorylation plays a regulatory role in the protein localization. The intramolecular interaction of the PX domain with the third SH3 domain maintains the protein in the cytoplasm and phosphorylation disrupts this interaction, resulting in the redistribution of the protein from cytoplasm to the perimembrane region. Phosphorylated on serine upon DNA damage, probably by ATM or ATR. Belongs to the SH3PXD2 family. Invadopodia formation PE1 10 +NX_Q5TD94 Radial spoke head protein 4 homolog A 716 80733 4.38 0 Nucleoplasm;Cilium axoneme;Cilium Ciliary dyskinesia, primary, 11 Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk which is attached to a subfiber of the outer doublet microtubule, and a bulbous head which is attached to the stalk and appears to interact with the projections from the central pair of microtubules. NA Belongs to the flagellar radial spoke RSP4/6 family. NA PE1 6 +NX_Q5TD97 Four and a half LIM domains protein 5 284 32720 7.77 0 Nucleus NA May be involved in the regulation of spermatogenesis. Stimulates CREM transcriptional activity in a phosphorylation-independent manner. NA NA NA PE1 6 +NX_Q5TDH0 Protein DDI1 homolog 2 399 44523 4.95 0 Nucleoplasm;Cytosol;Chromosome NA Aspartic protease that mediates the cleavage of NFE2L1/NRF1 at 'Leu-104', thereby promoting release of NFE2L1/NRF1 from the endoplasmic reticulum membrane (PubMed:27676298, PubMed:27528193). Ubiquitination of NFE2L1/NRF1 is a prerequisite for cleavage, suggesting that DDI2 specifically recognizes and binds ubiquitinated NFE2L1/NRF1 (PubMed:27528193). Seems to act as a proteasomal shuttle which links the proteasome and replication fork proteins like RTF2 (Probable). Required, with DDI1, for cellular survival following replication stress. Together or redudantly with DDI1, removes RTF2 from stalled forks to allow cell cycle progression after replication stress and maintains genome integrity (PubMed:29290612). NA Belongs to the DDI1 family. NA PE1 1 +NX_Q5TDP6 Lengsin 509 57278 5.96 0 Nucleoplasm;Cytoplasmic vesicle NA May act as a component of the cytoskeleton or as a chaperone for the reorganization of intermediate filament proteins during terminal differentiation in the lens. Does not seem to have enzymatic activity (By similarity). NA Belongs to the glutamine synthetase family. NA PE1 6 +NX_Q5TEA3 Uncharacterized protein C20orf194 1177 132287 6.11 0 Cytosol;Nucleolus NA May act as an effector for ARL3. NA NA NA PE1 20 +NX_Q5TEA6 Protein sel-1 homolog 2 688 77964 9.25 1 Membrane NA NA NA Belongs to the sel-1 family. NA PE1 20 +NX_Q5TEC3 Zinc finger protein 697 545 60461 6.88 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 1 +NX_Q5TEJ8 Protein THEMIS2 643 72049 5.77 0 Nucleoplasm NA May constitute a control point in macrophage inflammatory response, promoting LPS-induced TNF production. Phosphorylation at Tyr-632 is induced by LPS. Belongs to the themis family. NA PE1 1 +NX_Q5TEU4 Arginine-hydroxylase NDUFAF5, mitochondrial 345 38918 6.14 0 Mitochondrion inner membrane Mitochondrial complex I deficiency, nuclear type 16 Arginine hydroxylase involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages (PubMed:18940309, PubMed:27226634). Acts by mediating hydroxylation of 'Arg-111' of NDUFS7 (PubMed:27226634). May also have methyltransferase activity (Probable). NA Belongs to the methyltransferase superfamily. Complex I biogenesis PE1 20 +NX_Q5TEV5 Putative uncharacterized protein C1orf134 83 9093 9.72 0 Secreted NA NA NA NA NA PE3 1 +NX_Q5TEZ4 Putative uncharacterized protein encoded by LINC01590 76 8388 8.84 0 NA NA NA NA NA NA PE5 6 +NX_Q5TEZ5 Uncharacterized protein C6orf163 329 38553 6.49 0 Nucleoplasm NA NA NA NA NA PE1 6 +NX_Q5TF21 Protein SOGA3 947 103199 5.81 1 Membrane;Nucleoplasm;Cytosol NA NA NA Belongs to the SOGA family. NA PE1 6 +NX_Q5TF39 Sodium-dependent glucose transporter 1 518 56218 5.27 12 Apical cell membrane NA May function as a sodium-dependent glucose transporter. Potential channels for urea in the inner medulla of kidney. NA Belongs to the major facilitator superfamily. Cellular hexose transport PE1 6 +NX_Q5TF58 Intermediate filament family orphan 2 517 57328 4.86 0 Nucleoplasm;Cell membrane NA NA NA Belongs to the intermediate filament family. NA PE1 1 +NX_Q5TFE4 5'-nucleotidase domain-containing protein 1 455 51845 5.94 0 NA NA NA NA Belongs to the 5'(3')-deoxyribonucleotidase family. NA PE1 6 +NX_Q5TFG8 Zinc finger C2HC domain-containing protein 1B 222 24665 10.32 0 NA NA NA NA Belongs to the ZC2HC1 family. NA PE1 6 +NX_Q5TFQ8 Signal-regulatory protein beta-1 isoform 3 398 43359 7.7 1 Membrane NA Immunoglobulin-like cell surface receptor involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. NA NA Osteoclast differentiation PE1 20 +NX_Q5TG30 Rho GTPase-activating protein 40 622 68908 7.7 0 Nucleoplasm;Cytosol;Centrosome;Cell membrane NA GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. NA NA Rho GTPase cycle PE2 20 +NX_Q5TG53 Putative uncharacterized protein SERTAD4-AS1 156 16212 10.6 0 NA NA NA NA NA NA PE5 1 +NX_Q5TG92 Putative uncharacterized protein C1orf195 126 13826 10.19 0 NA NA NA NA NA NA PE2 1 +NX_Q5TGI0 Failed axon connections homolog 409 46843 5.34 1 Membrane;Nucleoplasm NA May play a role in axonal development. NA Belongs to the FAX family. NA PE1 6 +NX_Q5TGI4 Sterile alpha motif domain-containing protein 5 173 19231 9.19 0 Cytoplasmic vesicle;Cytoplasm NA NA NA NA NA PE1 6 +NX_Q5TGJ6 Hepatoma-derived growth factor-like protein 1 251 27234 4.5 0 NA NA NA NA Belongs to the HDGF family. NA PE1 6 +NX_Q5TGL8 PX domain-containing protein 1 231 26560 4.94 0 Cell membrane NA NA NA NA NA PE1 6 +NX_Q5TGP6 Maestro heat-like repeat-containing protein family member 9 573 65050 5.94 0 NA NA NA NA NA NA PE1 1 +NX_Q5TGS1 Transcription factor HES-3 186 19968 9.74 0 Nucleoplasm;Nucleus NA Transcriptional repressor of genes that require a bHLH protein for their transcription. NA NA NA PE2 1 +NX_Q5TGU0 Translocator protein 2 170 19129 8.48 5 Endoplasmic reticulum membrane NA Binds cholesterol and mediates its redistribution during erythropoiesis which may play a role in erythrocyte maturation. NA Belongs to the TspO/BZRP family. NA PE1 6 +NX_Q5TGY1 Transmembrane and coiled-coil domain-containing protein 4 634 67910 5.59 3 Membrane;Endoplasmic reticulum NA NA NA Belongs to the TMCO4 family. NA PE1 1 +NX_Q5TGY3 AT-hook DNA-binding motif-containing protein 1 1603 168349 9.21 0 Nucleoplasm Mental retardation, autosomal dominant 25 NA NA NA NA PE1 1 +NX_Q5TGZ0 MICOS complex subunit MIC10 78 8808 8.69 1 Mitochondrion inner membrane;Mitochondrion NA Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. NA Belongs to the MICOS complex subunit Mic10 family. Cristae formation PE1 1 +NX_Q5TH69 Brefeldin A-inhibited guanine nucleotide-exchange protein 3 2177 240652 5.54 1 Cytoplasm;Secretory vesicle membrane;Secretory vesicle NA Participates in the regulation of systemic glucose homeostasis, where it negatively regulates insulin granule biogenesis in pancreatic islet beta cells (By similarity). Also regulates glucagon granule production in pancreatic alpha cells (By similarity). Inhibits nuclear translocation of the transcriptional coregulator PHB2 and may enhance estrogen receptor alpha (ESR1) transcriptional activity in breast cancer cells (PubMed:19496786). NA NA NA PE1 6 +NX_Q5TH74 O(6)-methylguanine-induced apoptosis 2 334 36786 9.79 0 Nucleoplasm;Cytoplasm;Nucleus NA May positively contribute to the induction of apoptosis triggered by O(6)-methylguanine. NA Belongs to the STPG1 family. NA PE1 1 +NX_Q5THJ4 Vacuolar protein sorting-associated protein 13D 4388 491916 6.15 0 Cytoplasmic vesicle;Nucleoplasm;Cytosol Spinocerebellar ataxia, autosomal recessive 4 Functions in promoting mitochondrial clearance by mitochondrial autophagy (mitophagy), also possibly by positively regulating mitochondrial fission (PubMed:29307555, PubMed:29604224). Mitophagy plays an important role in regulating cell health and mitochondrial size and homeostasis. NA Belongs to the VPS13 family. NA PE1 1 +NX_Q5THK1 Protein PRR14L 2151 237300 5.93 0 Nucleoplasm NA NA NA NA NA PE1 22 +NX_Q5THR3 EF-hand calcium-binding domain-containing protein 6 1501 172930 8.67 0 Nucleoplasm;Nucleus NA Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex. NA NA NA PE1 22 +NX_Q5TI25 Neuroblastoma breakpoint family member 14 921 105853 4.5 0 Cytoplasm NA NA NA Belongs to the NBPF family. NA PE2 1 +NX_Q5TIA1 Meiosis inhibitor protein 1 1274 141161 6.24 0 NA NA Required for normal meiotic chromosome synapsis. May be involved in the formation of meiotic double-strand breaks (DSBs) in spermatocytes (By similarity). NA NA NA PE1 22 +NX_Q5TID7 Coiled-coil domain-containing protein 181 509 60103 5.7 0 Flagellum;Nucleus speckle;Cytoskeleton NA Microtubule-binding protein that localizes to the microtubular manchette of elongating spermatids. NA Belongs to the CCDC181 family. NA PE1 1 +NX_Q5TIE3 von Willebrand factor A domain-containing protein 5B1 1220 133802 8.45 0 Cytosol;Mitochondrion;Secreted;Cell membrane NA NA NA NA NA PE1 1 +NX_Q5TKA1 Protein lin-9 homolog 542 61946 9.17 0 Nucleoplasm NA Acts as a tumor suppressor. Inhibits DNA synthesis. Its ability to inhibit oncogenic transformation is mediated through its association with RB1. Plays a role in the expression of genes required for the G1/S transition. NA Belongs to the lin-9 family. G0 and Early G1;G1/S-Specific Transcription;Polo-like kinase mediated events;Cyclin E associated events during G1/S transition;Cyclin A:Cdk2-associated events at S phase entry;Transcription of E2F targets under negative control by DREAM complex;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1 PE1 1 +NX_Q5TYM5 Protein FAM72A 149 16619 5.54 0 Cytoplasm;Mitochondrion NA May play a role in the regulation of cellular reactive oxygen species metabolism. May participate in cell growth regulation. NA Belongs to the FAM72 family. NA PE1 1 +NX_Q5TYW1 Zinc finger protein 658 1059 122274 8.63 0 Nucleus NA Mediates transcriptional repression in response to zinc. Represses several genes, including SLC30A5, SLC30A10 and CBWD1, by binding to the zinc transcriptional regulatory element (ZTRE) (5'-C[AC]C[TAG]CC[TC]-N(0-50)-[GA]G[ATC]G[TG]G-3') found in the promoter region. May play a role in the control of ribosome biogenesis, regulating predominantly rRNA levels, as well as those of several ribosomal proteins, thus coordinating this highly zinc-demanding process with the available zinc supply. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 9 +NX_Q5TYW2 Ankyrin repeat domain-containing protein 20A1 823 94048 7.97 0 Cell membrane NA NA NA NA NA PE2 9 +NX_Q5TYX0 PRAME family member 5 476 54886 8.53 0 NA NA NA NA Belongs to the PRAME family. NA PE2 1 +NX_Q5TZ20 Olfactory receptor 2G6 316 34890 8.85 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q5TZA2 Rootletin 2017 228523 5.45 0 Centriole;Centrosome;Cilium basal body;Cell membrane NA Major structural component of the ciliary rootlet, a cytoskeletal-like structure in ciliated cells which originates from the basal body at the proximal end of a cilium and extends proximally toward the cell nucleus (By similarity). Furthermore, is required for the correct positioning of the cilium basal body relative to the cell nucleus, to allow for ciliogenesis (PubMed:27623382). Contributes to centrosome cohesion before mitosis (PubMed:16203858). Phosphorylated by NEK2 which may regulate its association with centrosomes.;CROCC is phosphorylated by NEK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the rootletin family. NA PE1 1 +NX_Q5TZF3 Ankyrin repeat domain-containing protein 45 266 29977 4.62 0 Cytosol;Centrosome;Cell membrane NA NA NA NA NA PE1 1 +NX_Q5TZJ5 Spermatogenesis-associated protein 31A1 1347 148561 9.07 1 Membrane NA May play a role in spermatogenesis. NA Belongs to the SPATA31 family. NA PE1 9 +NX_Q5TZK3 Protein FAM74A4/A6 123 14773 10.66 0 NA NA NA NA Belongs to the FAM74 family. NA PE1 9 +NX_Q5U3C3 Transmembrane protein 164 297 33508 8.41 7 Membrane;Cytoplasmic vesicle;Cell junction NA NA NA Belongs to the TMEM164 family. NA PE1 X +NX_Q5U4N7 Protein GDF5OS, mitochondrial 250 28211 12.03 0 Mitochondrion NA NA NA NA NA PE2 20 +NX_Q5U4P2 Aspartate beta-hydroxylase domain-containing protein 1 390 41128 8.94 1 Membrane NA NA NA Belongs to the aspartyl/asparaginyl beta-hydroxylase family. NA PE1 16 +NX_Q5U5Q3 RNA-binding E3 ubiquitin-protein ligase MEX3C 659 69366 4.93 0 Cytoplasm;Nucleus;Cytoplasmic vesicle NA E3 ubiquitin ligase responsible for the post-transcriptional regulation of common HLA-A allotypes. Binds to the 3' UTR of HLA-A2 mRNA, and regulates its levels by promoting mRNA decay. RNA binding is sufficient to prevent translation, but ubiquitin ligase activity is required for mRNA degradation. NA NA Antigen processing: Ubiquitination & Proteasome degradation PE1 18 +NX_Q5U5R9 Probable E3 ubiquitin-protein ligase HECTD2 776 88122 8.42 0 Nucleoplasm NA Probable E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 10 +NX_Q5U5X0 Complex III assembly factor LYRM7 104 11955 9.67 0 Mitochondrion matrix Mitochondrial complex III deficiency, nuclear 8 Assembly factor required for Rieske Fe-S protein UQCRFS1 incorporation into the cytochrome b-c1 (CIII) complex. Functions as a chaperone, binding to this subunit within the mitochondrial matrix and stabilizing it prior to its translocation and insertion into the late CIII dimeric intermediate within the mitochondrial inner membrane. NA Belongs to the complex I LYR family. NA PE1 5 +NX_Q5U5X8 Protein FAM222A 452 46792 9.2 0 Nucleoplasm;Mitochondrion;Focal adhesion;Cell membrane NA NA NA Belongs to the FAM222 family. NA PE1 12 +NX_Q5U5Z8 Cytosolic carboxypeptidase 2 902 104194 9.14 0 Cytosol;Cilium basal body;Centriole NA Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Does not show detyrosinase or deglycylase activities from the carboxy-terminus of tubulin. NA Belongs to the peptidase M14 family. Carboxyterminal post-translational modifications of tubulin PE1 11 +NX_Q5U623 Activating transcription factor 7-interacting protein 2 682 75764 7.96 0 Nucleus NA Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1. The complex formed with MBD1 and SETDB1 represses transcription and probably couples DNA methylation and histone H3 'Lys-9' trimethylation (H3K9me3) activity (Probable). NA Belongs to the MCAF family. NA PE1 16 +NX_Q5U649 Uncharacterized protein C12orf60 245 27626 7.73 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 12 +NX_Q5U651 Ras-interacting protein 1 963 103457 8.17 0 Perinuclear region;Golgi stack NA Required for the proper formation of vascular structures that develop via both vasculogenesis and angiogenesis. Acts as a critical and vascular-specific regulator of GTPase signaling, cell architecture, and adhesion, which is essential for endothelial cell morphogenesis and blood vessel tubulogenesis. Regulates the activity of Rho GTPases in part by recruiting ARHGAP29 and suppressing RhoA signaling and dampening ROCK and MYH9 activities in endothelial cells (By similarity). May act as effector for Golgi-bound HRAS and other Ras-like proteins. May promote HRAS-mediated transformation. Negative regulator of amino acid starvation-induced autophagy. NA NA NA PE1 19 +NX_Q5UAW9 G-protein coupled receptor 157 335 36623 9.27 7 Cilium membrane;Cell junction;Nucleolus;Cell membrane NA Orphan receptor that promotes neuronal differentiation of radial glial progenitors (RGPs). The activity of this receptor is mediated by a G(q)-protein that activates a phosphatidylinositol-calcium second messenger. NA Belongs to the G-protein coupled receptor 2 family. NA PE1 1 +NX_Q5UCC4 ER membrane protein complex subunit 10 262 27347 5.78 1 Membrane;Secreted NA Promotes angiogenesis and tissue repair in the heart after myocardial infarction. Stimulates cardiac endothelial cell migration and outgrowth via the activation of p38 MAPK, PAK and MAPK2 signaling pathways. Glycosylated. Belongs to the EMC10 family. NA PE1 19 +NX_Q5UE93 Phosphoinositide 3-kinase regulatory subunit 6 754 84258 7.58 0 Golgi apparatus;Cytoplasm;Cell membrane;Nucleoplasm;Cytosol NA Regulatory subunit of the PI3K gamma complex. Acts as an adapter to drive activation of PIK3CG by beta-gamma G protein dimers. The PIK3CG:PIK3R6 heterodimer is much less sensitive to beta-gamma G protein dimers than PIK3CG:PIK3R5 and its membrane recruitment and beta-gamma G protein dimer-dependent activation requires HRAS bound to PIK3CG. Recruits of the PI3K gamma complex to a PDE3B:RAPGEF3 signaling complex involved in angiogenesis; signaling seems to involve RRAS. NA NA Synthesis of PIPs at the plasma membrane;GPVI-mediated activation cascade;G beta:gamma signalling through PI3Kgamma PE1 17 +NX_Q5UIP0 Telomere-associated protein RIF1 2472 274466 5.39 0 Cell membrane;Chromosome;Nucleoplasm;Telomere;Spindle;Nucleus NA Key regulator of TP53BP1 that plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage: acts by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs (PubMed:15342490, PubMed:28241136). In response to DNA damage, interacts with ATM-phosphorylated TP53BP1 (PubMed:23333306, PubMed:28241136). Interaction with TP53BP1 leads to dissociate the interaction between NUDT16L1/TIRR and TP53BP1, thereby unmasking the tandem Tudor-like domain of TP53BP1 and allowing recruitment to DNA DSBs (PubMed:28241136). Once recruited to DSBs, RIF1 and TP53BP1 act by promoting NHEJ-mediated repair of DSBs (PubMed:23333306). In the same time, RIF1 and TP53BP1 specifically counteract the function of BRCA1 by blocking DSBs resection via homologous recombination (HR) during G1 phase (PubMed:23333306). Also required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs (By similarity). Promotes NHEJ of dysfunctional telomeres (By similarity). NA Belongs to the RIF1 family. Nonhomologous End-Joining (NHEJ) PE1 2 +NX_Q5VIR6 Vacuolar protein sorting-associated protein 53 homolog 699 79653 5.74 0 Recycling endosome;trans-Golgi network membrane;Endosome membrane Pontocerebellar hypoplasia 2E Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (PubMed:15878329, PubMed:18367545). Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061). NA Belongs to the VPS53 family. Retrograde transport at the Trans-Golgi-Network PE1 17 +NX_Q5VIY5 Zinc finger protein 468 522 60573 9.1 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q5VSD8 Putative uncharacterized protein LOC401522 79 8201 9.82 0 NA NA NA NA NA NA PE4 9 +NX_Q5VSG8 Glycoprotein endo-alpha-1,2-mannosidase-like protein 457 51317 6.47 1 Golgi apparatus;Golgi apparatus membrane NA NA NA Belongs to the glycosyl hydrolase 99 family. NA PE1 1 +NX_Q5VSL9 Striatin-interacting protein 1 837 95576 5.92 0 Cytoplasm;Cytosol NA Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape. NA Belongs to the STRIP family. NA PE1 1 +NX_Q5VSP4 Putative lipocalin 1-like protein 1 162 17918 4.93 0 Secreted NA May bind a variety of ligands including lipids. NA Belongs to the calycin superfamily. Lipocalin family. NA PE5 9 +NX_Q5VSR9 Sperm protein associated with the nucleus on the X chromosome N1 72 8263 5.79 0 NA NA NA NA Belongs to the SPAN-X family. NA PE2 X +NX_Q5VST6 Alpha/beta hydrolase domain-containing protein 17B 288 32215 5.89 0 Postsynaptic density;Dendritic spine;Recycling endosome membrane;Cell membrane NA Hydrolyzes fatty acids from S-acylated cysteine residues in proteins (PubMed:26701913). Has depalmitoylating activity towards DLG4/PSD95 (PubMed:26701913). Has depalmitoylating activity towards GAP43 (By similarity). Has depalmitoylating activity towards MAP6 (By similarity). Has depalmitoylating activity towards NRAS (PubMed:26701913). Palmitoylated on cysteine residues located in a cysteine cluster at the N-terminus which promotes membrane localization. Palmitoylation is required for post-synaptic localization and for depalmitoylating activity towards DLG4/PSD95. Belongs to the AB hydrolase superfamily. ABHD17 family. NA PE1 9 +NX_Q5VST9 Obscurin 7968 868484 5.69 0 Cell membrane;M line;Cytosol;Z line;Sarcolemma;Nucleus NA Structural component of striated muscles which plays a role in myofibrillogenesis. Probably involved in the assembly of myosin into sarcomeric A bands in striated muscle (PubMed:11448995, PubMed:16205939). Has serine/threonine protein kinase activity and phosphorylates N-cadherin CDH2 and sodium/potassium-transporting ATPase subunit ATP1B1 (By similarity). Binds (via the PH domain) strongly to phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), and to a lesser extent to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4-phosphate (PtdIns(4)P), phosphatidylinositol 5-phosphate (PtdIns(5)P) and phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) (PubMed:28826662). Autophosphorylated by protein kinase domains 1 and 2. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 1 +NX_Q5VSY0 G kinase-anchoring protein 1 366 42078 8.89 0 Golgi apparatus;Cytosol;Centriolar satellite NA Regulates insulin-dependent IRS1 tyrosine phosphorylation in adipocytes by modulating the availability of IRS1 to IR tyrosine kinase. Its association with IRS1 is required for insulin-induced translocation of SLC2A4 to the cell membrane. Involved in TNF-induced impairment of insulin-dependent IRS1 tyrosine phosphorylation. GKAP1 is phosphorylated by PRKG1 Belongs to the GKAP1 family. NA PE1 9 +NX_Q5VT03 NUT family member 2D 806 86276 6.98 0 NA NA NA NA Belongs to the NUT family. NA PE2 10 +NX_Q5VT06 Centrosome-associated protein 350 3117 350930 5.95 0 Centriole;Cilium basal body;Centrosome;Spindle;Nucleus NA Plays an essential role in centriole growth by stabilizing a procentriolar seed composed of at least, SASS6 and CENPJ (PubMed:19052644). Required for anchoring microtubules to the centrosomes and for the integrity of the microtubule network (PubMed:16314388, PubMed:17878239, PubMed:28659385). Recruits PPARA to discrete subcellular compartments and thereby modulates PPARA activity (PubMed:15615782). Required for ciliation (PubMed:28659385). Phosphorylated during mitosis. NA NA PE1 1 +NX_Q5VT25 Serine/threonine-protein kinase MRCK alpha 1732 197307 6.16 0 Cytoplasm;Lamellipodium;Cytoskeleton NA Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration (PubMed:15723050, PubMed:9418861, PubMed:9092543). Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2 (PubMed:21457715). In concert with MYO18A and LURAP1, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). Phosphorylates: PPP1R12A, LIMK1 and LIMK2 (PubMed:11340065, PubMed:11399775). May play a role in TFRC-mediated iron uptake (PubMed:20188707). In concert with FAM89B/LRAP25 mediates the targeting of LIMK1 to the lamellipodium resulting in its activation and subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation (By similarity). NA Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily. NA PE1 1 +NX_Q5VT28 Protein FAM27A/B/C 67 7388 7.82 0 NA NA NA NA Belongs to the FAM27 family. NA PE3 9 +NX_Q5VT33 Putative uncharacterized protein encoded by LINC01545 79 9515 10.54 0 NA NA NA NA NA NA PE4 X +NX_Q5VT40 Protein FAM78B 261 29835 9.46 0 Golgi apparatus;Cytoplasmic vesicle NA NA NA Belongs to the FAM78 family. NA PE2 1 +NX_Q5VT52 Regulation of nuclear pre-mRNA domain-containing protein 2 1461 156020 6.97 0 Nucleoplasm;Cytoplasmic vesicle NA NA NA NA RNA polymerase II transcribes snRNA genes PE1 1 +NX_Q5VT66 Mitochondrial amidoxime-reducing component 1 337 37499 9.12 1 Mitochondrion outer membrane;Membrane;Mitochondrion NA As a component of an N-hydroxylated prodrug-converting complex required to reduce N-hydroxylated prodrugs, such as benzamidoxime. Also able to reduce N(omega)-hydroxy-L-arginine (NOHA) and N(omega)-hydroxy-N(delta)-methyl-L-arginine (NHAM) into L-arginine and N(delta)-methyl-L-arginine, respectively. NA NA Phase I - Functionalization of compounds PE1 1 +NX_Q5VT79 Annexin A8-like protein 1 327 36879 5.56 0 NA NA NA NA Belongs to the annexin family. NA PE1 10 +NX_Q5VT97 Rho GTPase-activating protein SYDE2 1194 133230 8.83 0 Golgi apparatus;Nucleolus NA GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. NA NA Rho GTPase cycle PE1 1 +NX_Q5VT98 PRAME family member 20 475 54784 8.45 0 NA NA NA NA Belongs to the PRAME family. NA PE2 1 +NX_Q5VT99 Leucine-rich repeat-containing protein 38 294 32082 4.82 1 Cell membrane NA Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel's voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium. NA NA NA PE1 1 +NX_Q5VTA0 PRAME family member 17 474 54769 8.41 0 NA NA NA NA Belongs to the PRAME family. NA PE2 1 +NX_Q5VTB9 E3 ubiquitin-protein ligase RNF220 566 62765 5.7 0 Cytoplasm NA E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of SIN3B (By similarity). Independently of its E3 ligase activity, acts as a CTNNB1 stabilizer through USP7-mediated deubiquitination of CTNNB1 promoting Wnt signaling (PubMed:25266658). Auto-ubiquitinated; leads to proteasomal degradation. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 1 +NX_Q5VTD9 Zinc finger protein Gfi-1b 330 37492 9.25 0 Nucleoplasm;Nucleus Bleeding disorder, platelet-type 17 Essential proto-oncogenic transcriptional regulator necessary for development and differentiation of erythroid and megakaryocytic lineages. Component of a RCOR-GFI-KDM1A-HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development and controls hematopoietic differentiation. Transcriptional repressor or activator depending on both promoter and cell type context; represses promoter activity of SOCS1 and SOCS3 and thus, may regulate cytokine signaling pathways. Cooperates with GATA1 to repress target gene transcription, such as the apoptosis regulator BCL2L1; GFI1B silencing in leukemic cell lines markedly increase apoptosis rate. Inhibits down-regulation of MYC and MYB as well as the cyclin-dependent kinase inhibitor CDKN1A/P21WAF1 in IL6-treated myelomonocytic cells. Represses expression of GATA3 in T-cell lymphomas and inhibits GATA1-mediated transcription; as GATA1 also mediates erythroid GFI1B transcription, both GATA1 and GFI1B participate in a feedback regulatory pathway controlling the expression of GFI1B gene in erythroid cells. Suppresses GATA1-mediated stimulation of GFI1B promoter through protein interaction. Binds to gamma-satellite DNA and to its own promoter, auto-repressing its own expression. Alters histone methylation by recruiting histone methyltransferase to target genes promoters. Plays a role in heterochromatin formation. Methylation at Lys-8 in the SNAG domain seems required for the recruitment of the corepressor complex. NA NA PE1 9 +NX_Q5VTE0 Putative elongation factor 1-alpha-like 3 462 50185 9.15 0 Cytoplasm NA This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. NA Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily. Eukaryotic Translation Elongation PE5 9 +NX_Q5VTE6 Protein angel homolog 2 544 62339 8 0 Nucleoplasm;Mitochondrion;Nucleus NA NA NA Belongs to the CCR4/nocturin family. NA PE1 1 +NX_Q5VTH2 Protein Flattop 177 19293 10.09 0 Apical cell membrane;Cilium;Cilium basal body NA Acts as a regulator of cilium basal body docking and positioning in mono- and multiciliated cells. Regulates basal body docking and cilia formation in multiciliated lung cells. Regulates kinocilium positioning and stereocilia bundle morphogenesis in the inner ear. NA Belongs to the Flattop family. NA PE1 1 +NX_Q5VTH9 WD repeat-containing protein 78 848 94573 5.53 0 NA NA NA NA NA NA PE1 1 +NX_Q5VTJ3 Kelch domain-containing protein 7A 777 84479 7.93 1 Membrane;Nucleus speckle NA NA NA NA NA PE1 1 +NX_Q5VTL7 Fibronectin type III domain-containing protein 7 733 78236 5.46 0 Nucleoplasm;Secreted;Cytoskeleton NA NA NA NA NA PE1 1 +NX_Q5VTL8 Pre-mRNA-splicing factor 38B 546 64468 10.54 0 Nucleus NA May be required for pre-mRNA splicing. NA Belongs to the PRP38 family. Spliceosome PE1 1 +NX_Q5VTM2 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9 703 77972 8.14 0 NA NA Putative GTPase-activating protein. NA Belongs to the centaurin gamma-like family. NA PE2 10 +NX_Q5VTQ0 Tetratricopeptide repeat protein 39B 682 76956 7.16 0 Endoplasmic reticulum NA Regulates high density lipoprotein (HDL) cholesterol metabolism by promoting the ubiquitination and degradation of the oxysterols receptors LXR (NR1H2 and NR1H3). NA Belongs to the TTC39 family. NA PE1 9 +NX_Q5VTR2 E3 ubiquitin-protein ligase BRE1A 975 113662 5.73 0 Nucleoplasm;Nucleus NA Component of the RNF20/40 E3 ubiquitin-protein ligase complex that mediates monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1). H2BK120ub1 gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation (H3K4me and H3K79me, respectively). It thereby plays a central role inb histone code and gene regulation. The RNF20/40 complex forms a H2B ubiquitin ligase complex in cooperation with the E2 enzyme UBE2A or UBE2B; reports about the cooperation with UBE2E1/UBCH are contradictory. Required for transcriptional activation of Hox genes. Recruited to the MDM2 promoter, probably by being recruited by p53/TP53, and thereby acts as a transcriptional coactivator. Mediates the polyubiquitination of isoform 2 of PA2G4 in cancer cells leading to its proteasome-mediated degradation. NA Belongs to the BRE1 family. Protein modification; protein ubiquitination.;E3 ubiquitin ligases ubiquitinate target proteins PE1 9 +NX_Q5VTT2 Protein C9orf135 229 26445 6.75 1 Cytoplasm;Cell membrane NA NA NA NA NA PE1 9 +NX_Q5VTT5 Myomesin-3 1437 162189 5.89 0 Golgi apparatus;Cytoplasmic vesicle;M line;Cytoskeleton NA May link the intermediate filament cytoskeleton to the M-disk of the myofibrils in striated muscle. NA NA NA PE1 1 +NX_Q5VTU8 ATP synthase subunit epsilon-like protein, mitochondrial 51 5807 10.15 0 Mitochondrion inner membrane NA Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (By similarity). NA Belongs to the eukaryotic ATPase epsilon family. NA PE1 13 +NX_Q5VTY9 Protein-cysteine N-palmitoyltransferase HHAT 493 57313 6.9 10 Golgi apparatus;Endoplasmic reticulum membrane NA Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling. May bind GTP. NA Belongs to the membrane-bound acyltransferase family. HHAT subfamily. Hedgehog ligand biogenesis;HHAT G278V abrogates palmitoylation of Hh-Np PE1 1 +NX_Q5VU36 Spermatogenesis-associated protein 31A5 1347 148687 9 1 Membrane NA May play a role in spermatogenesis. NA Belongs to the SPATA31 family. NA PE2 9 +NX_Q5VU43 Myomegalin 2346 265103 5.35 0 Golgi apparatus;Centrosome;Cytoskeleton NA Functions as an anchor sequestering components of the cAMP-dependent pathway to Golgi and/or centrosomes (By similarity).;Participates in microtubule dynamics, promoting microtubule assembly. Depending upon the cell context, may act at the level of the Golgi apparatus or that of the centrosome (PubMed:25217626, PubMed:27666745, PubMed:28814570, PubMed:29162697). In complex with AKAP9, recruits CAMSAP2 to the Golgi apparatus and tethers non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745, PubMed:28814570). In complex with AKAP9, EB1/MAPRE1 and CDK5RAP2, contributes to microtubules nucleation and extension from the centrosome to the cell periphery, a crucial process for directed cell migration, mitotic spindle orientation and cell-cycle progression (PubMed:29162697). NA NA NA PE1 1 +NX_Q5VU57 Cytosolic carboxypeptidase 6 503 58230 8.66 0 Golgi apparatus;Cytosol;Cilium basal body;Centriole NA Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes polyglutamates from the carboxy-terminus of target proteins such as MYLK. Mediates deglutamylation of CGAS, regulating the antiviral activity of CGAS. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5. NA Belongs to the peptidase M14 family. Carboxyterminal post-translational modifications of tubulin PE1 1 +NX_Q5VU65 Nuclear pore membrane glycoprotein 210-like 1888 210605 7.15 1 Membrane;Nucleus NA NA NA Belongs to the NUP210 family. RNA transport PE1 1 +NX_Q5VU69 Uncharacterized protein C1orf189 101 12131 9.72 0 NA NA NA NA NA NA PE1 1 +NX_Q5VU92 DDB1- and CUL4-associated factor 12-like protein 1 463 51201 8.84 0 NA NA NA NA Belongs to the WD repeat DCAF12 family. NA PE1 X +NX_Q5VU97 VWFA and cache domain-containing protein 1 1274 142290 5.97 1 Membrane;Nucleoplasm;Nucleolus NA May regulate voltage-dependent calcium channels. NA Belongs to the calcium channel subunit alpha-2/delta family. NA PE1 1 +NX_Q5VUA4 Zinc finger protein 318 2279 251112 6.78 0 Nucleoplasm;Cytosol;Nucleus NA Acts as a transcriptional coactivator for AR-mediated transactivation function. May act as a transcriptional regulator during spermatogenesis and, in particular, during meiotic division.;Acts as a transcriptional corepressor for AR-mediated transactivation function. May act as a transcriptional regulator during spermatogenesis and, in particular, during meiotic division. NA NA NA PE1 6 +NX_Q5VUB5 Protein FAM171A1 890 97854 6.12 1 Nucleoplasm;Cell membrane NA Involved in the regulation of the cytoskeletal dynamics, plays a role in actin stress fiber formation. NA Belongs to the FAM171 family. NA PE1 10 +NX_Q5VUD6 Divergent protein kinase domain 1B 431 48583 9 1 Nucleoplasm;Endoplasmic reticulum membrane;Nucleus;Cytoplasmic vesicle NA NA Among the many cysteines in the lumenal domain, most are probably involved in disulfide bonds. Belongs to the DIPK family. NA PE1 9 +NX_Q5VUE5 Uncharacterized protein C1orf53 145 15483 9.03 0 Cytoplasmic vesicle;Cytosol NA NA NA NA NA PE1 1 +NX_Q5VUG0 Scm-like with four MBT domains protein 2 894 100563 6.14 0 Nucleoplasm;Nucleus speckle;Nucleus NA Transcriptional repressor of HOXB13 gene. NA NA NA PE1 10 +NX_Q5VUJ5 Putative Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7 663 73211 6.25 0 NA NA Putative GTPase-activating protein. NA Belongs to the centaurin gamma-like family. NA PE5 10 +NX_Q5VUJ6 Leucine-rich repeat and calponin homology domain-containing protein 2 765 84588 6.11 0 Nucleolus;Cell membrane NA May play a role in the organization of the cytoskeleton. NA NA NA PE1 X +NX_Q5VUJ9 Dynein regulatory complex protein 8 269 29714 8.92 0 Flagellum axoneme;Cytosol;Cell membrane NA Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. NA Belongs to the DRC8 family. NA PE1 1 +NX_Q5VUM1 Succinate dehydrogenase assembly factor 4, mitochondrial 108 12213 9.43 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion NA Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol (PubMed:24954416). Binds to the flavoprotein subunit SDHA in its FAD-bound form, blocking the generation of excess reactive oxigen species (ROS) and facilitating its assembly with the iron-sulfur protein subunit SDHB into the SDH catalytic dimer (By similarity). NA Belongs to the SDHAF4 family. NA PE1 6 +NX_Q5VUR7 Ankyrin repeat domain-containing protein 20A3 823 94108 8.12 0 NA NA NA NA NA NA PE2 9 +NX_Q5VUY0 Arylacetamide deacetylase-like 3 407 46155 7.54 0 NA NA NA NA Belongs to the 'GDXG' lipolytic enzyme family. NA PE2 1 +NX_Q5VUY2 Arylacetamide deacetylase-like 4 407 46082 8.54 1 Membrane NA NA NA Belongs to the 'GDXG' lipolytic enzyme family. NA PE2 1 +NX_Q5VV11 Putative UPF0633 protein ENSP00000303136 94 10769 11.91 0 NA NA NA NA Belongs to the UPF0633 family. NA PE5 9 +NX_Q5VV16 Forkhead box protein D4-like 5 416 45780 9.58 0 Nucleus NA NA NA NA NA PE2 9 +NX_Q5VV17 OTU domain-containing protein 1 481 51063 5.68 0 Golgi apparatus;Nucleoplasm;Nucleus NA Deubiquitinating enzyme that specifically hydrolyzes 'Lys-63'-linked polyubiquitin to monoubiquitin. NA NA NA PE1 10 +NX_Q5VV41 Rho guanine nucleotide exchange factor 16 709 80105 6.9 0 Cytoplasm NA Guanyl-nucleotide exchange factor of the RHOG GTPase stimulating the exchange of RHOG-associated GDP for GTP. May play a role in chemotactic cell migration by mediating the activation of RAC1 by EPHA2. May also activate CDC42 and mediate activation of CDC42 by the viral protein HPV16 E6. NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 1 +NX_Q5VV42 Threonylcarbamoyladenosine tRNA methylthiotransferase 579 65111 7.2 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane Diabetes mellitus, non-insulin-dependent Catalyzes the methylthiolation of N6-threonylcarbamoyladenosine (t(6)A), leading to the formation of 2-methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with adenine. NA Belongs to the methylthiotransferase family. CDKAL1 subfamily. tRNA modification in the nucleus and cytosol PE1 6 +NX_Q5VV43 Dyslexia-associated protein KIAA0319 1072 117763 5.34 1 Early endosome membrane;Cytoplasmic vesicle;Cell membrane Dyslexia 2 Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites. N-glycosylated.;O-glycosylated.;Shedding of the extracellular domain and intramembrane cleavage produce several proteolytic products. The intramembrane cleavage releases a soluble cytoplasmic polypeptide that translocates to the nucleolus. NA Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 6 +NX_Q5VV52 Zinc finger protein 691 315 35810 7.9 0 Nucleoplasm;Nucleus;Nucleolus;Cytoplasmic vesicle NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 1 +NX_Q5VV63 Attractin-like protein 1 1379 152639 7.31 1 Membrane;Nucleoplasm;Mitochondrion NA May play a role in melanocortin signaling pathways that regulate energy homeostasis. NA NA NA PE1 10 +NX_Q5VV67 Peroxisome proliferator-activated receptor gamma coactivator-related protein 1 1664 177544 6.11 0 Nucleoplasm;Nucleus NA Acts as a coactivator during transcriptional activation of nuclear genes related to mitochondrial biogenesis and cell growth. Involved in the transcription coactivation of CREB and NRF1 target genes. NA NA Transcriptional activation of mitochondrial biogenesis PE1 10 +NX_Q5VVB8 Transmembrane protein 244 128 14657 5.82 3 Membrane NA NA NA NA NA PE2 6 +NX_Q5VVC0 Uncharacterized protein C1orf146 180 20418 9.03 0 NA NA NA NA NA NA PE2 1 +NX_Q5VVH5 Interleukin-1 receptor-associated kinase 1-binding protein 1 260 29106 9.07 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA Component of the IRAK1-dependent TNFRSF1A signaling pathway that leads to NF-kappa-B activation and is required for cell survival. Acts by enhancing RELA transcriptional activity (By similarity). Phosphorylation at Ser-56 and/or Ser-62 is required for full activity. Phosphorylated on at least one of Ser-235, Thr-237, Ser-242 and Thr-247 upon TNF-alpha activation, which favors nuclear translocation (By similarity). Belongs to the IRAK1BP1 family. NA PE1 6 +NX_Q5VVJ2 Histone H2A deubiquitinase MYSM1 828 95032 5.4 0 Nucleoplasm;Nucleus;Cell membrane Bone marrow failure syndrome 4 Metalloprotease that specifically deubiquitinates monoubiquitinated histone H2A, a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Preferentially deubiquitinates monoubiquitinated H2A in hyperacetylated nucleosomes. Deubiquitination of histone H2A leads to facilitate the phosphorylation and dissociation of histone H1 from the nucleosome. Acts as a coactivator by participating in the initiation and elongation steps of androgen receptor (AR)-induced gene activation. Required for correct regulation of hematopoiesis and lymphocyte differentiation (PubMed:28115216, PubMed:26220525). NA Belongs to the peptidase M67A family. MYSM1 subfamily. Metalloprotease DUBs PE1 1 +NX_Q5VVM6 Coiled-coil domain-containing protein 30 783 91333 5.57 0 NA NA NA NA Belongs to the prefoldin subunit beta family. NA PE1 1 +NX_Q5VVP1 Spermatogenesis-associated protein 31A6 1343 147818 8.99 1 Membrane NA May play a role in spermatogenesis. NA Belongs to the SPATA31 family. NA PE2 9 +NX_Q5VVQ6 Ubiquitin thioesterase OTU1 348 38322 5.77 0 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA Hydrolase that can remove conjugated ubiquitin from proteins and participates in endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by triming the ubiquitin chain on the associated substrate to facilitate their threading through the VCP/p97 pore. Ubiquitin moieties on substrates may present a steric impediment to the threading process when the substrate is transferred to the VCP pore and threaded through VCP's axial channel. Mediates deubiquitination of 'Lys-27'-, 'Lys-29'- and 'Lys-33'-linked polyubiquitin chains. Also able to hydrolyze 'Lys-11'-linked ubiquitin chains. Cleaves both polyubiquitin and di-ubiquitin. May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes. May recruit PLAA, UBXN6 and VCP to damaged lysosome membranes decorated with K48-linked ubiquitin chains and remove these chains allowing autophagosome formation (PubMed:27753622). NA NA Protein processing in endoplasmic reticulum;Ovarian tumor domain proteases PE1 1 +NX_Q5VVS0 Putative uncharacterized protein C1orf140 124 13926 6.89 0 NA NA NA NA NA NA PE5 1 +NX_Q5VVW2 GTPase-activating Rap/Ran-GAP domain-like protein 3 1013 112852 7.57 0 Cytoplasmic vesicle;Nucleoplasm NA NA NA Belongs to the GARNL3 family. NA PE1 9 +NX_Q5VVX9 Ubiquitin-conjugating enzyme E2 U 321 37741 5.06 0 NA NA Catalyzes the covalent attachment of ubiquitin to other proteins. Autoubiquitinated in vitro in the presence of UBR5. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation PE1 1 +NX_Q5VVY1 Alpha N-terminal protein methyltransferase 1B 283 32400 6.51 0 Nucleus NA Alpha-N-methyltransferase that methylates the N-terminus of target proteins containing the N-terminal motif [Ala/Pro/Ser]-Pro-Lys when the initiator Met is cleaved. Specifically catalyzes monomethylation of exposed alpha-amino group of Ala or Ser residue in the [Ala/Ser]-Pro-Lys motif and Pro in the Pro-Pro-Lys motif. May activate NTMT1 by priming its substrates for trimethylation. NA Belongs to the methyltransferase superfamily. NTM1 family. NA PE1 1 +NX_Q5VW00 DDB1- and CUL4-associated factor 12-like protein 2 463 50803 9.36 0 NA NA NA NA Belongs to the WD repeat DCAF12 family. NA PE1 X +NX_Q5VW22 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6 663 73127 6.41 0 NA NA Putative GTPase-activating protein. NA Belongs to the centaurin gamma-like family. NA PE2 10 +NX_Q5VW32 BRO1 domain-containing protein BROX 411 46476 7.55 0 Membrane;Nucleoplasm;Golgi apparatus;Cytosol NA NA NA Belongs to the BROX family. NA PE1 1 +NX_Q5VW36 Focadhesin 1801 200072 6.17 3 Membrane;Mitochondrion;Focal adhesion NA Potential tumor suppressor in gliomas. NA NA NA PE1 9 +NX_Q5VW38 Protein GPR107 600 66990 6.77 7 Golgi apparatus;Nucleoplasm;trans-Golgi network membrane;Cell membrane NA Has been proposed to act as a receptor for neuronostatin, a peptide derived from the somatostatin/SST precursor (PubMed:22933024). Involved in blood sugar regulation through the induction of glucagon in response to low glucose (By similarity).;(Microbial infection) Required for intoxication by Pseudomonas aeruginosa exotoxin A and Campylobacter jejuni CDT. May contribute to the retrograde transport of bacterial toxins, including cholera toxin, from the trans-Golgi network to the endoplasmic reticulum. Cleaved by FURIN to yield two fragments of 17 and 35 kDa that remain associated via a disulfide bond. Belongs to the LU7TM family. NA PE1 9 +NX_Q5VWC8 Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 4 232 27520 8.76 6 Endoplasmic reticulum membrane NA Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. NA Belongs to the very long-chain fatty acids dehydratase HACD family. Lipid metabolism; fatty acid biosynthesis.;Synthesis of very long-chain fatty acyl-CoAs PE1 9 +NX_Q5VWG9 Transcription initiation factor TFIID subunit 3 929 103582 9.13 0 Nucleoplasm;Nucleus;Nucleus membrane NA Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Required in complex with TBPL2 for the differentiation of myoblasts into myocytes. The complex replaces TFIID at specific promoters at an early stage in the differentiation process. NA Belongs to the TAF3 family. Basal transcription factors;Herpes simplex infection;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;Regulation of TP53 Activity through Phosphorylation PE1 10 +NX_Q5VWI1 Transcription elongation regulator 1-like protein 586 65660 9.84 0 NA NA NA NA NA NA PE2 10 +NX_Q5VWJ9 Sorting nexin-30 437 49677 5.21 0 Nucleoplasm;Cytosol;Nucleolus NA May be involved in several stages of intracellular trafficking. NA Belongs to the sorting nexin family. NA PE1 9 +NX_Q5VWK0 Neuroblastoma breakpoint family member 6 638 72239 4.84 0 Cytoplasm NA NA NA Belongs to the NBPF family. NA PE2 1 +NX_Q5VWK5 Interleukin-23 receptor 629 71722 5.32 1 Cell membrane Inflammatory bowel disease 17 Associates with IL12RB1 to form the interleukin-23 receptor. Binds IL23 and mediates T-cells, NK cells and possibly certain macrophage/myeloid cells stimulation probably through activation of the Jak-Stat signaling cascade. IL23 functions in innate and adaptive immunity and may participate in acute response to infection in peripheral tissues. IL23 may be responsible for autoimmune inflammatory diseases and be important for tumorigenesis. Phosphorylated in response to IL23. Belongs to the type I cytokine receptor family. Type 2 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-4 and Interleukin-13 signaling;Interleukin-23 signaling PE1 1 +NX_Q5VWM3 PRAME family member 18 479 55334 8.31 0 NA NA NA NA Belongs to the PRAME family. NA PE2 1 +NX_Q5VWM4 PRAME family member 8 474 53655 5.99 0 NA NA NA NA Belongs to the PRAME family. NA PE2 1 +NX_Q5VWM5 PRAME family member 9/15 478 55420 8.82 0 NA NA NA NA Belongs to the PRAME family. NA PE2 1 +NX_Q5VWM6 Putative PRAME family member 13 474 54914 8.85 0 NA NA NA NA Belongs to the PRAME family. NA PE5 1 +NX_Q5VWN6 Protein TASOR 2 2430 268843 5.61 0 Nucleoplasm;Cytosol NA NA NA Belongs to the TASOR family. NA PE1 10 +NX_Q5VWP2 Terminal nucleotidyltransferase 5C 391 44944 5.45 0 Nucleoplasm;Cytoplasm;Nucleus NA (Microbial infection) Seems to enhance replication of some viruses, including yellow fever virus, in response to type I interferon.;Nucleotidyltransferase that act as a non-canonical poly(A) RNA polymerase which enhances mRNA stability and gene expression. Mainly targets mRNAs encoding endoplasmic reticulum-targeted protein and may be involved in induction of cell death. NA Belongs to the TENT family. NA PE1 1 +NX_Q5VWP3 Muscular LMNA-interacting protein 458 50429 5.96 0 Nucleoplasm;Nucleus envelope;PML body;Sarcolemma;Nucleus NA Required for precocious cardiac adaptation to stress through integrated regulation of the AKT/mTOR pathways and FOXO1. Regulates cardiac homeostasis and plays an important role in protection against cardiac hypertrophy. Acts as a transcriptional cofactor, represses transactivator activity of ISL1 and MYOCD. NA NA NA PE1 6 +NX_Q5VWQ0 Lysine-specific demethylase 9 802 90072 8.85 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Histone demethylase that specifically demethylates dimethylated 'Lys-20' of histone H4 (H4K20me2), thereby modulating chromosome architecture. Phosphorylated by PKA. Belongs to the round spermatid basic protein 1 family. NA PE1 1 +NX_Q5VWQ8 Disabled homolog 2-interacting protein 1189 131625 8.92 0 Membrane;Cytoplasm;Dendrite;Cell membrane NA Functions as a scaffold protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Involved in several processes such as innate immune response, inflammation and cell growth inhibition, apoptosis, cell survival, angiogenesis, cell migration and maturation. Plays also a role in cell cycle checkpoint control; reduces G1 phase cyclin levels resulting in G0/G1 cell cycle arrest. Mediates signal transduction by receptor-mediated inflammatory signals, such as the tumor necrosis factor (TNF), interferon (IFN) or lipopolysaccharide (LPS). Modulates the balance between phosphatidylinositol 3-kinase (PI3K)-AKT-mediated cell survival and apoptosis stimulated kinase (MAP3K5)-JNK signaling pathways; sequesters both AKT1 and MAP3K5 and counterbalances the activity of each kinase by modulating their phosphorylation status in response to proinflammatory stimuli. Acts as a regulator of the endoplasmic reticulum (ER) unfolded protein response (UPR) pathway; specifically involved in transduction of the ER stress-response to the JNK cascade through ERN1. Mediates TNF-alpha-induced apoptosis activation by facilitating dissociation of inhibitor 14-3-3 from MAP3K5; recruits the PP2A phosphatase complex which dephosphorylates MAP3K5 on 'Ser-966', leading to the dissociation of 13-3-3 proteins and activation of the MAP3K5-JNK signaling pathway in endothelial cells. Mediates also TNF/TRAF2-induced MAP3K5-JNK activation, while it inhibits CHUK-NF-kappa-B signaling. Acts a negative regulator in the IFN-gamma-mediated JAK-STAT signaling cascade by inhibiting smooth muscle cell (VSMCs) proliferation and intimal expansion, and thus, prevents graft arteriosclerosis (GA). Acts as a GTPase-activating protein (GAP) for the ADP ribosylation factor 6 (ARF6) and Ras. Promotes hydrolysis of the ARF6-bound GTP and thus, negatively regulates phosphatidylinositol 4,5-bisphosphate (PIP2)-dependent TLR4-TIRAP-MyD88 and NF-kappa-B signaling pathways in endothelial cells in response to lipopolysaccharides (LPS). Binds specifically to phosphatidylinositol 4-phosphate (PtdIns4P) and phosphatidylinositol 3-phosphate (PtdIns3P). In response to vascular endothelial growth factor (VEGFA), acts as a negative regulator of the VEGFR2-PI3K-mediated angiogenic signaling pathway by inhibiting endothelial cell migration and tube formation. In the developing brain, promotes both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex in a glial-dependent locomotion process. Probable downstream effector of the Reelin signaling pathway; promotes Purkinje cell (PC) dendrites development and formation of cerebellar synapses. Functions also as a tumor suppressor protein in prostate cancer progression; prevents cell proliferation and epithelial-to-mesenchymal transition (EMT) through activation of the glycogen synthase kinase-3 beta (GSK3B)-induced beta-catenin and inhibition of PI3K-AKT and Ras-MAPK survival downstream signaling cascades, respectively. In response to TNF-alpha-induction, phosphorylated at Ser-728; phosphorylation leads to a conformational change, and thus, increases its association with 14-3-3 proteins, MAP3K5, RIPK1 and TRAF2 in endothelial cells; also stimulates regulatory p85 subunit sequestring and PI3K-p85 complex activity inhibition. NA Regulation of RAS by GAPs;Signaling by RAS mutants PE1 9 +NX_Q5VWT5 FYN-binding protein 2 728 82070 8.58 0 Membrane raft NA Adapter protein that plays a role in T-cell receptor (TCR)-mediated activation of signaling pathways. Required for T-cell activation and integrin-mediated T-cell adhesion in response to TCR stimulation (PubMed:27335501). Phosphorylation is required for its function in T-cell activation. NA NA PE1 1 +NX_Q5VWW1 Complement C1q-like protein 3 255 26719 6.29 0 Secreted NA May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity). Plays a role in glucose homeostasis. Via AMPK signaling pathway, stimulates glucose uptake in adipocytes, myotubes and hepatocytes and enhances insulin-stimulated glucose uptake. In a hepatoma cell line, reduces the expression of gluconeogenic enzymes G6PC and PCK1 and hence decreases de novo glucose production (By similarity). NA NA NA PE1 10 +NX_Q5VWX1 KH domain-containing, RNA-binding, signal transduction-associated protein 2 349 38927 5.94 0 Nucleus NA RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds both poly(A) and poly(U) homopolymers. Phosphorylation by PTK6 inhibits its RNA-binding ability (By similarity). Induces an increased concentration-dependent incorporation of exon in CD44 pre-mRNA by direct binding to purine-rich exonic enhancer. Can regulate alternative splicing of NRXN1 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners. Regulates cell-type specific alternative splicing of NRXN1 at AS4 and acts synergystically with SAM68 in exon skipping. In contrast acts antagonistically with SAM68 in NRXN3 exon skipping at AS4. Its phosphorylation by FYN inhibits its ability to regulate splice site selection. May function as an adapter protein for Src kinases during mitosis. Tyrosine phosphorylated by FYN, PTK6 and SRC. Tyrosine phosphorylated by SRC during mitosis (By similarity).;Methylated.;KHDRBS2 is phosphorylated by PTK6 Belongs to the KHDRBS family. PTK6 Regulates Proteins Involved in RNA Processing PE1 6 +NX_Q5VWZ2 Lysophospholipase-like protein 1 237 26316 7.71 0 Cytosol NA Has depalmitoylating activity toward KCNMA1. Does not exhibit phospholipase nor triacylglycerol lipase activity, able to hydrolyze only short chain substrates due to its shallow active site. NA Belongs to the AB hydrolase superfamily. AB hydrolase 2 family. NA PE1 1 +NX_Q5VX52 Spermatogenesis-associated protein 1 459 52946 8.93 0 NA NA NA NA NA NA PE2 1 +NX_Q5VX71 Sushi domain-containing protein 4 490 53778 4.78 1 Membrane;Cytoplasmic vesicle;Secreted NA Acts as complement inhibitor by disrupting the formation of the classical C3 convertase.;Inhibits the classical complement pathway, while membrane-bound isoform 1 inhibits deposition of C3b via both the classical and alternative complement pathways. NA NA NA PE2 1 +NX_Q5VXD3 Sterile alpha motif domain-containing protein 13 122 13570 4.98 0 Mitochondrion NA NA NA NA NA PE1 1 +NX_Q5VXH4 PRAME family member 6 476 54852 8.54 0 NA NA NA NA Belongs to the PRAME family. NA PE2 1 +NX_Q5VXH5 PRAME family member 7 474 53627 5.99 0 NA NA NA NA Belongs to the PRAME family. NA PE2 1 +NX_Q5VXI9 Lipase member N 398 45534 6.35 0 Secreted Ichthyosis, congenital, autosomal recessive 8 Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers. NA Belongs to the AB hydrolase superfamily. Lipase family. Formation of the cornified envelope PE2 10 +NX_Q5VXJ0 Lipase member K 399 45563 8.39 0 Secreted NA Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers. NA Belongs to the AB hydrolase superfamily. Lipase family. Formation of the cornified envelope PE2 10 +NX_Q5VXM1 CUB domain-containing protein 2 449 48752 5.81 0 Secreted NA NA NA NA NA PE2 1 +NX_Q5VXT5 Synaptophysin-like protein 2 272 30156 5.4 4 Membrane;Cytosol;Cell membrane NA Involved in communication between the T-tubular and junctional sarcoplasmic reticulum (SR) membranes. NA Belongs to the synaptophysin/synaptobrevin family. NA PE1 1 +NX_Q5VXU1 Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 208 23831 4.94 4 Cytosol;Cell membrane NA NA NA Belongs to the NKAIN family. NA PE2 6 +NX_Q5VXU3 Cysteine-rich hydrophobic domain-containing protein 1 224 25616 4.51 0 Cytoplasmic vesicle;Cytosol;Nucleus speckle;Cell membrane NA NA Palmitoylated. Belongs to the CHIC family. NA PE1 X +NX_Q5VXU9 Protein shortage in chiasmata 1 ortholog 1444 165202 5.1 0 Cytoplasmic vesicle;Cytosol;Chromosome NA ATPase required during meiosis for the formation of crossover recombination intermediates (By similarity). Binds DNA: preferentially binds to single-stranded DNA and DNA branched structures (PubMed:29742103). Does not show nuclease activity in vitro, but shows ATPase activity, which is stimulated by the presence of single-stranded DNA (PubMed:29742103). NA Belongs to the XPF family. Highly divergent. NA PE1 9 +NX_Q5VY09 Immediate early response gene 5 protein 327 33704 4.91 0 Nucleoplasm;Nucleus;Cytoplasm;Nucleolus NA Plays a role as a transcription factor (PubMed:22132193, PubMed:25355627). Mediates positive transcriptional regulation of several chaperone genes during the heat shock response in a HSF1-dependent manner (PubMed:25355627, PubMed:25816751). Mediates negative transcriptional regulation of CDC25B expression (PubMed:22132193). Plays a role in the dephosphorylation of the heat shock factor HSF1 and ribosomal protein S6 kinase (S6K) by the protein phosphatase PP2A (PubMed:25816751, PubMed:26496226). Involved in the regulation of cell proliferation and resistance to thermal stress (PubMed:22132193, PubMed:25355627, PubMed:26496226). Involved in the cell cycle checkpoint and survival in response to ionizing radiation (PubMed:19238419, PubMed:22132193). Associates with chromatin to the CDC25B promoter (PubMed:22132193). NA Belongs to the IER family. NA PE1 1 +NX_Q5VY43 Platelet endothelial aggregation receptor 1 1037 110666 6.4 1 Nucleoplasm;Cell junction;Centrosome;Cell membrane NA When overexpressed, reduces the number of both early and late non-adherent myeloid progenitor cells. Phosphorylated in the intracellular domain on tyrosine residues (By similarity). Phosphorylated on tyrosine residues by SRC. Tyrosine phosphorylation is detected upon platelet aggregation stimulated by collagen, TRAP and thrombin and platelet-platelet contacts but not after platelet activation. Tyrosine phosphorylation enhanced its association with SHC1 and SHC2. Belongs to the MEGF family. NA PE1 1 +NX_Q5VY80 UL16-binding protein 6 246 27509 5.96 0 Endoplasmic reticulum;Cell membrane NA Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity. NA Belongs to the MHC class I family. Natural killer cell mediated cytotoxicity;Post-translational modification: synthesis of GPI-anchored proteins PE1 6 +NX_Q5VYJ5 MAM and LDL-receptor class A domain-containing protein 1 2156 241008 5.04 1 Golgi apparatus;Cytoplasmic vesicle membrane NA Enhances production and/or transport of FGF19 and thus has a role in regulation of bile acid synthesis. NA NA NA PE1 10 +NX_Q5VYK3 Proteasome adapter and scaffold protein ECM29 1845 204291 6.74 0 Cytoplasm;Endoplasmic reticulum-Golgi intermediate compartment;Multivesicular body;Endoplasmic reticulum;Nucleoplasm;Endosome;Centrosome;Cytoplasmic vesicle;Nucleus NA Adapter/scaffolding protein that binds to the 26S proteasome, motor proteins and other compartment specific proteins. May couple the proteasome to different compartments including endosome, endoplasmic reticulum and centrosome. May play a role in ERAD and other enhanced proteolyis (PubMed:15496406). Promotes proteasome dissociation under oxidative stress (By similarity). NA Belongs to the ECM29 family. NA PE1 9 +NX_Q5VYM1 Uncharacterized protein C9orf131 1079 117724 7 0 Mitochondrion NA NA NA NA NA PE1 9 +NX_Q5VYP0 Spermatogenesis-associated protein 31A3 1347 148706 8.99 1 Membrane NA May play a role in spermatogenesis. NA Belongs to the SPATA31 family. NA PE2 9 +NX_Q5VYS4 Mesenteric estrogen-dependent adipogenesis protein 303 34190 6.06 0 Cytoplasm NA Involved in processes that promote adipocyte differentiation, lipid accumulation, and glucose uptake in mature adipocytes. NA NA NA PE1 13 +NX_Q5VYS8 Terminal uridylyltransferase 7 1495 171229 6.4 0 Cytoplasm;Nucleoplasm;Cytosol NA Uridylyltransferase that mediates the terminal uridylation of mRNAs with short (less than 25 nucleotides) poly(A) tails, hence facilitating global mRNA decay (PubMed:19703396, PubMed:25480299). Essential for both oocyte maturation and fertility. Through 3' terminal uridylation of mRNA, sculpts, with TUT7, the maternal transcriptome by eliminating transcripts during oocyte growth (By similarity). Involved in microRNA (miRNA)-induced gene silencing through uridylation of deadenylated miRNA targets (PubMed:25480299). Also functions as an integral regulator of microRNA biogenesiS using 3 different uridylation mechanisms (PubMed:25979828). Acts as a suppressor of miRNA biogenesis by mediating the terminal uridylation of some miRNA precursors, including that of let-7 (pre-let-7). Uridylated pre-let-7 RNA is not processed by Dicer and undergo degradation. Pre-let-7 uridylation is strongly enhanced in the presence of LIN28A (PubMed:22898984). In the absence of LIN28A, TUT7 and TUT4 monouridylate group II pre-miRNAs, which includes most of pre-let7 members, that shapes an optimal 3' end overhang for efficient processing (PubMed:25979828, PubMed:28671666). Add oligo-U tails to truncated pre-miRNAS with a 5' overhang which may promote rapid degradation of non-functional pre-miRNA species (PubMed:25979828). Does not play a role in replication-dependent histone mRNA degradation (PubMed:18172165). Due to functional redundancy between TUT4 and TUT7, the identification of the specific role of each of these proteins is difficult (PubMed:25979828, PubMed:25480299, PubMed:19703396, PubMed:22898984, PubMed:18172165, PubMed:28671666). TUT4 and TUT7 restrict retrotransposition of long interspersed element-1 (LINE-1) in cooperation with MOV10 counteracting the RNA chaperonne activity of L1RE1. TUT7 uridylates LINE-1 mRNAs in the cytoplasm which inhibits initiation of reverse transcription once in the nucleus, whereas uridylation by TUT4 destabilizes mRNAs in cytoplasmic ribonucleoprotein granules (PubMed:30122351). NA Belongs to the DNA polymerase type-B-like family. Deadenylation of mRNA PE1 9 +NX_Q5VYV0 Forkhead box protein B2 432 45581 9.55 0 Nucleus NA Transcription factor. NA NA NA PE2 9 +NX_Q5VYV7 Protein SLX4IP 408 45552 9.5 0 Cytosol NA NA NA Belongs to the SLX4IP family. NA PE1 20 +NX_Q5VYX0 Renalase 342 37847 6.06 0 Secreted NA Catalyzes the oxidation of the less abundant 1,2-dihydro-beta-NAD(P) and 1,6-dihydro-beta-NAD(P) to form beta-NAD(P)(+). The enzyme hormone is secreted by the kidney, and circulates in blood and modulates cardiac function and systemic blood pressure. Lowers blood pressure in vivo by decreasing cardiac contractility and heart rate and preventing a compensatory increase in peripheral vascular tone, suggesting a causal link to the increased plasma catecholamine and heightened cardiovascular risk. High concentrations of catecholamines activate plasma renalase and promotes its secretion and synthesis. NA Belongs to the renalase family. Nicotinamide salvaging PE1 10 +NX_Q5VYY1 Ankyrin repeat domain-containing protein 22 191 21849 9.07 0 Nucleoplasm NA NA NA NA NA PE1 10 +NX_Q5VYY2 Lipase member M 423 48233 6.64 0 Secreted NA Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers. NA Belongs to the AB hydrolase superfamily. Lipase family. Formation of the cornified envelope PE2 10 +NX_Q5VZ03 Nucleoredoxin-like protein 2 156 17614 6.9 0 Cytosol NA May be involved in the maintenance of both the function and the viability of sensory neurons, including photoreceptors and olfactory neurons. NA Belongs to the nucleoredoxin family. NA PE2 9 +NX_Q5VZ18 SH2 domain-containing adapter protein E 495 53950 9.23 0 NA NA NA NA NA NA PE1 1 +NX_Q5VZ19 Tudor domain-containing protein 10 366 40941 8.1 0 Cytoplasmic vesicle NA NA NA NA NA PE1 1 +NX_Q5VZ46 Uncharacterized protein KIAA1614 1190 126604 9.1 0 Cytoplasmic vesicle;Nucleus membrane NA NA NA NA NA PE1 1 +NX_Q5VZ52 MORN repeat-containing protein 5 161 18731 5.58 0 NA NA NA NA NA NA PE1 9 +NX_Q5VZ66 Janus kinase and microtubule-interacting protein 3 844 98529 5.53 0 Golgi apparatus NA NA NA Belongs to the JAKMIP family. NA PE1 10 +NX_Q5VZ72 Izumo sperm-egg fusion protein 3 239 27768 8.62 1 Cell membrane NA NA NA Belongs to the Izumo family. Acrosome Reaction and Sperm:Oocyte Membrane Binding PE1 9 +NX_Q5VZ89 DENN domain-containing protein 4C 1909 212711 6.39 0 Golgi apparatus;Cell membrane;Cytoplasmic vesicle membrane;Cytoplasmic vesicle;Cytosol NA Guanine nucleotide exchange factor (GEF) activating RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB10 into its active GTP-bound form. Thereby, stimulates SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane in response to insulin. Phosphorylated in response to insulin. NA RAB GEFs exchange GTP for GDP on RABs PE1 9 +NX_Q5VZB9 Doublesex- and mab-3-related transcription factor A1 504 53125 9.15 0 Cytoplasmic vesicle;Nucleus NA NA NA Belongs to the DMRT family. NA PE1 9 +NX_Q5VZE5 N-alpha-acetyltransferase 35, NatC auxiliary subunit 725 83639 6.6 0 Cytoplasm;Cytoplasmic vesicle NA Auxillary component of the N-terminal acetyltransferase C (NatC) complex which catalyzes acetylation of N-terminal methionine residues. Involved in regulation of apoptosis and proliferation of smooth muscle cells. NA Belongs to the MAK10 family. Retrograde transport at the Trans-Golgi-Network PE1 9 +NX_Q5VZF2 Muscleblind-like protein 2 373 40518 8.77 0 Cytoplasm;Nucleoplasm;Nucleus NA Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. RNA-binding protein that binds to 5'ACACCC-3' core sequence, termed zipcode, within the 3'UTR of ITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs. Seems to regulate expression and localization of ITGA3 by transporting it from the nucleus to cytoplasm at adhesion plaques. May play a role in myotonic dystrophy pathophysiology (DM). NA Belongs to the muscleblind family. NA PE1 13 +NX_Q5VZI3 Transmembrane protein 268 342 37569 5.19 2 Membrane;Cytosol;Cell membrane NA NA NA NA NA PE1 9 +NX_Q5VZK9 F-actin-uncapping protein LRRC16A 1371 151557 8.02 0 Cytoplasm;Cell membrane;Lamellipodium;Cytosol;Cytoskeleton NA Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization, however, seems unable to nucleate filaments (PubMed:16054028). Plays a role in lamellipodial protrusion formations and cell migration (PubMed:19846667). NA Belongs to the CARMIL family. Factors involved in megakaryocyte development and platelet production PE1 6 +NX_Q5VZL5 Zinc finger MYM-type protein 4 1548 172788 6.46 0 Nucleoplasm;Cytosol;Nucleolus NA Plays a role in the regulation of cell morphology and cytoskeletal organization. NA NA NA PE1 1 +NX_Q5VZM2 Ras-related GTP-binding protein B 374 43250 5.85 0 Cytoplasm;Lysosome NA Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade. Forms heterodimeric Rag complexes with RRAGC or RRAGD and cycles between an inactive GDP-bound and an active GTP-bound form. In its active form participates in the relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. Involved in the RCC1/Ran-GTPase pathway. NA Belongs to the GTR/RAG GTP-binding protein family. Macroautophagy;TP53 Regulates Metabolic Genes;Energy dependent regulation of mTOR by LKB1-AMPK;mTOR signalling;mTORC1-mediated signalling;Regulation of PTEN gene transcription PE1 X +NX_Q5VZP5 Inactive dual specificity phosphatase 27 1158 130176 5.1 0 Nucleoplasm;Sarcomere NA May be required for myofiber maturation. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. NA PE1 1 +NX_Q5VZQ5 Testis-expressed protein 36 186 21545 9.79 0 NA NA NA NA NA NA PE1 10 +NX_Q5VZR2 NUT family member 2G 741 79011 8.51 0 NA NA NA NA Belongs to the NUT family. NA PE2 9 +NX_Q5VZR4 Hippocampus abundant transcript-like protein 2 150 16372 7.77 3 Membrane NA NA NA Belongs to the major facilitator superfamily. NA PE2 9 +NX_Q5VZT2 Putative uncharacterized protein C10orf113 155 17689 10.01 0 NA NA NA NA NA NA PE2 10 +NX_Q5VZV1 Protein-lysine methyltransferase METTL21C 264 29565 4.85 0 Nucleus NA Protein-lysine methyltransferase. NA Belongs to the methyltransferase superfamily. METTL21 family. NA PE1 13 +NX_Q5VZY2 Phospholipid phosphatase 4 271 30395 8.5 6 Membrane;Nucleoplasm;Nucleolus NA Displays magnesium-independent phosphatidate phosphatase activity in vitro. Catalyzes the conversion of phosphatidic acid to diacylglycerol. NA Belongs to the PA-phosphatase related phosphoesterase family. Role of phospholipids in phagocytosis PE1 10 +NX_Q5W041 Armadillo repeat-containing protein 3 872 96405 5.89 0 NA NA NA NA NA NA PE1 10 +NX_Q5W064 Lipase member J 366 42388 6.11 0 NA NA NA NA Belongs to the AB hydrolase superfamily. Lipase family. Formation of the cornified envelope PE2 10 +NX_Q5W0A0 Glutamate-rich protein 6B 696 81686 4.73 0 NA NA NA NA Belongs to the ERICH6 family. NA PE1 13 +NX_Q5W0B1 ORC ubiquitin ligase 1 726 81116 5.53 0 Cytoplasm;Chromosome;Nucleoplasm;Cytosol;Nucleus NA E3 ubiquitin ligase essential for DNA replication origin activation during S phase (PubMed:31160578). Acts as a replication origin selector which selects the origins to be fired and catalyzes the multi-mono-ubiquitination of a subset of chromatin-bound ORC3 and ORC5 during S-phase (PubMed:31160578). Auto-ubiquitinated. NA NA PE1 13 +NX_Q5W0B7 Transmembrane protein 236 351 39663 9.36 6 Membrane NA NA NA Belongs to the TMEM236 family. NA PE1 10 +NX_Q5W0N0 Uncharacterized protein C9orf57 161 18115 8.62 1 Membrane NA NA NA NA NA PE2 9 +NX_Q5W0Q7 SUMO-specific isopeptidase USPL1 1092 120440 5.8 0 Cajal body NA SUMO-specific isopeptidase involved in protein desumoylation. Specifically binds SUMO proteins with a higher affinity for SUMO2 and SUMO3 which it cleaves more efficiently. Also able to process full-length SUMO proteins to their mature forms (PubMed:22878415). Plays a key role in RNA polymerase-II-mediated snRNA transcription in the Cajal bodies (PubMed:24413172). Is a component of complexes that can bind to U snRNA genes (PubMed:24413172). NA Belongs to the peptidase C19 family. NA PE1 13 +NX_Q5W0U4 B box and SPRY domain-containing protein 402 44381 5.99 0 Membrane;Cytoplasm;Cytosol;Nucleoplasm NA May regulate epithelial calcium transport by inhibiting TRPV5 activity. NA NA NA PE1 9 +NX_Q5W0V3 Protein FAM160B1 765 86558 5.13 0 Cytosol;Nucleus speckle NA NA NA Belongs to the UPF0518 family. NA PE1 10 +NX_Q5W0Z9 Palmitoyltransferase ZDHHC20 365 42278 7.87 4 Cytoplasmic vesicle;Golgi apparatus membrane;Perinuclear region;Cell membrane NA Catalyzes palmitoylation of Cys residues on target proteins (PubMed:27153536, PubMed:29326245). Catalyzes palmitoylation of Cys residues in the cytoplasmic C-terminus of EGFR, and modulates the duration of EGFR signaling by modulating palmitoylation-dependent EGFR internalization and degradation (PubMed:27153536). Has a preference for acyl-CoA with C16 fatty acid chains (PubMed:29326245). Can also utilize acyl-CoA with C14 and C18 fatty acid chains (PubMed:29326245). Autopalmitoylated (in vitro). Belongs to the DHHC palmitoyltransferase family. NA PE1 13 +NX_Q5W111 SPRY domain-containing protein 7 196 21666 6.22 0 Cytoplasmic vesicle NA NA NA NA NA PE1 13 +NX_Q5W150 Putative uncharacterized protein MGC163334 140 15095 9.75 0 NA NA NA NA NA NA PE1 20 +NX_Q5W186 Cystatin-9 159 18135 8.18 0 Secreted NA May be involved in testis development (By similarity). May play a role in hematopoietic differentiation or inflammation (PubMed:12535658). Has immunomodulatory and antimicrobial functions against Francisella tularensis, a Gram-negative bacteria (PubMed:23922243). NA Belongs to the cystatin family. NA PE2 20 +NX_Q5W188 Putative cystatin-9-like protein CST9LP1 147 17316 4.97 0 Secreted NA NA NA Belongs to the cystatin family. NA PE5 20 +NX_Q5W5W9 Regulated endocrine-specific protein 18 228 24956 5.35 0 Golgi apparatus;Endoplasmic reticulum;Secretory vesicle lumen NA May play an important regulatory role in corticotrophs. NA Belongs to the RESP18 family. NA PE2 2 +NX_Q5W5X9 Tetratricopeptide repeat protein 23 447 50009 8.6 0 Cytosol;Cilium;Cell membrane NA Participates positively in the ciliary Hedgehog (Hh) signaling. NA NA NA PE1 15 +NX_Q5XG85 Putative UPF0633 protein LOC554249 94 10725 11.96 0 NA NA NA NA Belongs to the UPF0633 family. NA PE5 9 +NX_Q5XG87 Terminal nucleotidyltransferase 4A 772 82360 9.56 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Nucleus membrane NA Terminal nucleotidyltransferase that catalyzes preferentially the transfert of ATP and GTP on RNA 3' poly(A) tail creating a heterogeneous 3' poly(A) tail leading to mRNAs stabilization by protecting mRNAs from active deadenylation (PubMed:23376078, PubMed:30026317). Also functions as a catalytic subunit of a TRAMP-like complex which has a poly(A) RNA polymerase activity and is involved in a post-transcriptional quality control mechanism. Polyadenylation with short oligo(A) tails is required for the degradative activity of the exosome on several of its nuclear RNA substrates. Has no terminal uridylyltransferase activity, and does not play a role in replication-dependent histone mRNA degradation via uridylation (PubMed:23376078). NA Belongs to the DNA polymerase type-B-like family. RNA degradation;Signaling by BRAF and RAF fusions PE1 5 +NX_Q5XG92 Carboxylesterase 4A 561 63529 9.37 0 Cytosol;Secreted NA Probable carboxylesterase. NA Belongs to the type-B carboxylesterase/lipase family. NA PE1 16 +NX_Q5XG99 LysM and putative peptidoglycan-binding domain-containing protein 4 296 32066 5.99 1 Membrane;Cytosol;Cytoskeleton NA NA NA NA NA PE1 15 +NX_Q5XKE5 Keratin, type II cytoskeletal 79 535 57836 6.75 0 Nucleoplasm;Cytosol;Nucleus membrane NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_Q5XKK7 Protein FAM219B 198 21103 8.54 0 Golgi apparatus;Nucleoplasm NA NA NA Belongs to the FAM219 family. NA PE1 15 +NX_Q5XKL5 BTB/POZ domain-containing protein 8 378 42793 5.68 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 1 +NX_Q5XKP0 MICOS complex subunit MIC13 118 13087 9.44 1 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion Combined oxidative phosphorylation deficiency 37 Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Constituent of mature MICOS complex, it is required for the formation of cristae junction (CJ) and maintenance of cristae morphology. Required for the incorporation of MICOS10/MIC10 into the MICOS complex. NA Belongs to the MICOS complex subunit Mic13 family. Cristae formation PE1 19 +NX_Q5XKR4 Homeobox protein orthopedia 325 34159 9.54 0 Nucleus NA Probably involved in the differentiation of hypothalamic neuroendocrine cells. NA Belongs to the paired homeobox family. Bicoid subfamily. NA PE1 5 +NX_Q5XKR9 Protein FAM104B 115 13109 9.64 0 NA NA NA NA Belongs to the FAM104 family. NA PE1 X +NX_Q5XLA6 Caspase recruitment domain-containing protein 17 110 11868 5.34 0 Cytoplasm NA Regulator of procaspase-1/CASP1 activation implicated in the regulation of the proteolytic maturation of pro-IL-1beta/IL1B and its release during inflammation. Inhibits the release of IL1B in response to LPS in monocytes. However, unlike CASP1, do not induce NF-kappa-B activation. NA NA NA PE1 11 +NX_Q5XPI4 E3 ubiquitin-protein ligase RNF123 1314 148515 6.31 0 Cytoplasm;Cytosol NA Catalytic subunit of the KPC complex that acts as E3 ubiquitin-protein ligase. Promotes the ubiquitination and proteasome-mediated degradation of CDKN1B which is the cyclin-dependent kinase inhibitor at the G0-G1 transition of the cell cycle (PubMed:15531880, PubMed:16227581). Functions also as an inhibitor of innate antiviral signaling mediated by DDX58 and IFIH1 independently of its E3 ligase activity (PubMed:27312109). Interacts with the N-terminal CARD domains of DDX58 and IFIH1 and competes with the downstream adapter MAVS (PubMed:27312109). Ubiquitinated, leading to its degradation. Deubiquitinated by USP19, thereby stimulating CDKN1B ubiquitin-dependent degradation. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Ub-specific processing proteases PE1 3 +NX_Q5XUX0 F-box only protein 31 539 60664 6.56 0 Golgi apparatus;Nucleoplasm;Cytosol Mental retardation, autosomal recessive 45 Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in G1 arrest following DNA damage. Specifically recognizes phosphorylated cyclin-D1 (CCND1), promoting its ubiquitination and degradation by the proteasome, resulting in G1 arrest. May act as a tumor suppressor. Phosphorylation at Ser-278 by ATM following gamma-irradiation results in its stabilization. Belongs to the FBXO31 family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 16 +NX_Q5XUX1 F-box/WD repeat-containing protein 9 488 54115 6.02 0 Cytosol NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Association of TriC/CCT with target proteins during biosynthesis;Neddylation PE1 19 +NX_Q5XX13 F-box/WD repeat-containing protein 10 1052 119846 9.47 0 Nucleoplasm NA Probable substrate-recognition component of a SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Overexpression is leading to degradation of CBX5 and CBX1. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Association of TriC/CCT with target proteins during biosynthesis;Neddylation PE1 17 +NX_Q5XXA6 Anoctamin-1 986 114078 8.76 10 Nucleoplasm;Cytoplasm;Cell membrane NA Calcium-activated chloride channel (CaCC) which plays a role in transepithelial anion transport and smooth muscle contraction. Required for the normal functioning of the interstitial cells of Cajal (ICCs) which generate electrical pacemaker activity in gastrointestinal smooth muscles. Acts as a major contributor to basal and stimulated chloride conductance in airway epithelial cells and plays an important role in tracheal cartilage development. NA Belongs to the anoctamin family. Stimuli-sensing channels PE1 11 +NX_Q5Y7A7 HLA class II histocompatibility antigen, DRB1-13 beta chain 266 30008 6.51 1 Endoplasmic reticulum membrane;Cell membrane;Endosome membrane;Lysosome membrane;trans-Golgi network membrane;Late endosome membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II. Belongs to the MHC class II family. MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_Q5YKI7 Putative gametogenetin-binding protein 1 109 12309 5.3 0 Membrane;Cytoplasm;Golgi apparatus NA May be involved in spermatogenesis. NA NA NA PE5 6 +NX_Q5ZPR3 CD276 antigen 534 57235 4.77 1 Membrane;Cytoplasmic vesicle NA Is shown to enhance the induction of cytotoxic T-cells and selectively stimulates interferon gamma production in the presence of T-cell receptor signaling.;May participate in the regulation of T-cell-mediated immune response. May play a protective role in tumor cells by inhibiting natural-killer mediated cell lysis as well as a role of marker for detection of neuroblastoma cells. May be involved in the development of acute and chronic transplant rejection and in the regulation of lymphocytic activity at mucosal surfaces. Could also play a key role in providing the placenta and fetus with a suitable immunological environment throughout pregnancy. Both isoform 1 and isoform 2 appear to be redundant in their ability to modulate CD4 T-cell responses. NA Belongs to the immunoglobulin superfamily. BTN/MOG family. Cell adhesion molecules (CAMs) PE1 15 +NX_Q60I27 ALS2 C-terminal-like protein 953 107748 5.75 0 Cytoplasm NA Acts as a guanine nucleotide exchange factor (GEF) for Rab5 GTPase. Regulates the ALS2-mediated endosome dynamics. NA NA RAB GEFs exchange GTP for GDP on RABs PE1 3 +NX_Q629K1 Triple QxxK/R motif-containing protein 86 9683 9.36 1 Endoplasmic reticulum membrane NA May play a role in cell growth and maintenance of cell morphology. NA Belongs to the TRIQK family. NA PE1 8 +NX_Q63HK3 Zinc finger protein with KRAB and SCAN domains 2 967 110941 8.68 0 Nucleoplasm;Golgi apparatus;Nucleus;Nucleolus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 16 +NX_Q63HK5 Teashirt homolog 3 1081 118566 6.83 0 Mitochondrion;Cell membrane;Growth cone;Nucleoplasm;Nucleus NA Transcriptional regulator involved in developmental processes. Function in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. TSHZ3-mediated transcription repression involves the recruitment of histone deacetylases HDAC1 and HDAC2. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s) (PubMed:19343227). Regulates the development of neurons involved in both respiratory rhythm and airflow control. Promotes maintenance of nucleus ambiguus (nA) motoneurons, which govern upper airway function, and establishes a respiratory rhythm generator (RRG) activity compatible with survival at birth. Involved in the differentiation of the proximal uretic smooth muscle cells during developmental processes. Involved in the up-regulation of myocardin, that directs the expression of smooth muscle cells in the proximal ureter (By similarity). Involved in the modulation of glutamatergic synaptic transmission and long-term synaptic potentiation (By similarity). NA Belongs to the teashirt C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q63HM1 Kynurenine formamidase 303 33992 5.57 0 Cytosol;Mitochondrion;Nucleus NA Catalyzes the hydrolysis of N-formyl-L-kynurenine to L-kynurenine, the second step in the kynurenine pathway of tryptophan degradation. Kynurenine may be further oxidized to nicotinic acid, NAD(H) and NADP(H). Required for elimination of toxic metabolites. NA Belongs to the kynurenine formamidase family. Amino-acid degradation; L-tryptophan degradation via kynurenine pathway; L-kynurenine from L-tryptophan: step 2/2.;Tryptophan metabolism;Glyoxylate and dicarboxylate metabolism;Metabolic pathways;Tryptophan catabolism PE1 17 +NX_Q63HM2 Pecanex-like protein 4 1172 132702 5.88 15 Membrane;Cytoplasm;Cytosol;Nucleus NA NA NA Belongs to the pecanex family. NA PE1 14 +NX_Q63HM9 PI-PLC X domain-containing protein 3 321 36313 5.87 0 Golgi apparatus;Cytoplasm NA NA NA NA NA PE1 5 +NX_Q63HN1 Putative protein FAM205B 556 61860 7.14 0 NA NA NA NA Belongs to the FAM205 family. NA PE5 9 +NX_Q63HN8 E3 ubiquitin-protein ligase RNF213 5207 591407 6.05 0 Cytosol Moyamoya disease 2 E3 ubiquitin-protein ligase involved in angiogenesis (PubMed:21799892, PubMed:26278786, PubMed:26766444, PubMed:26126547). Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression (PubMed:26766444). Also has ATPase activity (PubMed:24658080, PubMed:26126547). Autoubiquitinated. Belongs to the AAA ATPase family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 17 +NX_Q63HQ0 AP-1 complex-associated regulatory protein 302 34280 4.79 0 trans-Golgi network;Golgi apparatus;Cell membrane;Early endosome;Late endosome NA Necessary for adaptor protein complex 1 (AP-1)-dependent transport between the trans-Golgi network and endosomes. Regulates the membrane association of AP1G1/gamma1-adaptin, one of the subunits of the AP-1 adaptor complex. The direct interaction with AP1G1/gamma1-adaptin attenuates the release of the AP-1 complex from membranes. Regulates endosomal membrane traffic via association with AP-1 and KIF5B thus linking kinesin-based plus-end-directed microtubular transport to AP-1-dependent membrane traffic. May act as effector of AP-1 in calcium-induced endo-lysosome secretion. Inhibits Arp2/3 complex function; negatively regulates cell spreading, size and motility via intracellular sequestration of the Arp2/3 complex. Palmitoylated. NA NA PE1 4 +NX_Q63HQ2 Pikachurin 1017 111271 7.24 0 Presynaptic active zone;Extracellular matrix;Synaptic cleft NA Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness (By similarity). O-glycosylated; contains chondroitin sulfate and heparan sulfate. NA NA PE1 5 +NX_Q63HR2 Tensin-2 1409 152580 8.67 0 Focal adhesion;Cell membrane NA Regulates cell motility and proliferation. May have phosphatase activity. Reduces AKT1 phosphorylation. Lowers AKT1 kinase activity and interferes with AKT1 signaling. NA NA NA PE1 12 +NX_Q63ZE4 Solute carrier family 22 member 10 541 60257 8.89 11 Membrane NA NA NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. NA PE2 11 +NX_Q63ZY3 KN motif and ankyrin repeat domain-containing protein 2 851 91174 5.44 0 Cytoplasm;Mitochondrion Palmoplantar keratoderma and woolly hair;Nephrotic syndrome 16 Involved in transcription regulation by sequestering in the cytoplasm nuclear receptor coactivators such as NCOA1, NCOA2 and NCOA3 (PubMed:17476305). Involved in regulation of caspase-independent apoptosis by sequestering the proapoptotic factor AIFM1 in mitochondria (PubMed:22371500). Pro-apoptotic stimuli can induce its proteasomal degradation allowing the translocation of AIFM1 to the nucleus to induce apoptosis (PubMed:22371500). Involved in the negative control of vitamin D receptor signaling pathway (PubMed:24671081). Involved in actin stress fibers formation through its interaction with ARHGDIA and the regulation of the Rho signaling pathway (PubMed:17996375, PubMed:25961457). May thereby play a role in cell adhesion and migration, regulating for instance podocytes migration during development of the kidney (PubMed:25961457). Through the Rho signaling pathway may also regulate cell proliferation (By similarity). Phosphorylated by casein kinase II upon estrogen stimulation (PubMed:17476305). Phosphorylation induces the release by KANK2 of NCOA1 and its translocation to the nucleus where NCOA1 can activate gene transcription (PubMed:17476305). NA NA PE1 19 +NX_Q63ZY6 Putative methyltransferase NSUN5C 315 34347 9.01 0 NA NA May have S-adenosyl-L-methionine-dependent methyl-transferase activity. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. NA PE5 7 +NX_Q641Q2 WASH complex subunit 2A 1341 147184 4.69 0 Early endosome membrane;Cell membrane NA Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex probably promoting localized F-actin polymerization needed for vesicle scission. Via its C-terminus binds various phospholipids, most strongly phosphatidylinositol 4-phosphate (PtdIns-(4)P), phosphatidylinositol 5-phosphate (PtdIns-(5)P) and phosphatidylinositol 3,5-bisphosphate (PtdIns-(3,5)P2). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1. Required for the association of DNAJC13, ENTR1, ANKRD50 with retromer CSC subunit VPS35. Required for the endosomal recruitment of CCC complex subunits COMMD1 and CCDC93 as well as the retriever complex subunit VPS35L. NA Belongs to the FAM21 family. NA PE1 10 +NX_Q641Q3 Meteorin-like protein 311 34398 8.72 0 Secreted NA Hormone induced following exercise or cold exposure that promotes energy expenditure. Induced either in the skeletal muscle after exercise or in adipose tissue following cold exposure and is present in the circulation. Able to stimulate energy expenditure associated with the browning of the white fat depots and improves glucose tolerance. Does not promote an increase in a thermogenic gene program via direct action on adipocytes, but acts by stimulating several immune cell subtypes to enter the adipose tissue and activate their prothermogenic actions. Stimulates an eosinophil-dependent increase in IL4 expression and promotes alternative activation of adipose tissue macrophages, which are required for the increased expression of the thermogenic and anti-inflammatory gene programs in fat. Required for some cold-induced thermogenic responses, suggesting a role in metabolic adaptations to cold temperatures (By similarity). NA Belongs to the meteorin family. NA PE1 17 +NX_Q643R3 Lysophospholipid acyltransferase LPCAT4 524 57219 9.17 2 Endoplasmic reticulum membrane NA Displays acyl-CoA-dependent lysophospholipid acyltransferase activity with a subset of lysophospholipids as substrates; converts lysophosphatidylethanolamine to phosphatidylethanolamine, lysophosphatidylcholine to phosphatidycholine, 1-alkenyl-lysophatidylethanolamine to 1-alkenyl-phosphatidylethanolamine, lysophosphatidylglycerol and alkyl-lysophosphatidylcholine to phosphatidylglycerol and alkyl-phosphatidylcholine, respectively. In contrast, has no lysophosphatidylinositol, glycerol-3-phosphate, diacylglycerol or lysophosphatidic acid acyltransferase activity. Prefers long chain acyl-CoAs (C16, C18) as acyl donors. NA Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. Lipid metabolism; phospholipid metabolism.;Glycerophospholipid metabolism;Ether lipid metabolism;Metabolic pathways;Synthesis of PA;Acyl chain remodelling of PG;Acyl chain remodelling of PC;Acyl chain remodelling of PS;Acyl chain remodelling of PE PE1 15 +NX_Q64ET8 Protein FRG2 278 30490 7.6 0 Nucleus NA NA NA Belongs to the FRG2 family. NA PE2 4 +NX_Q64LD2 WD repeat-containing protein 25 544 60161 9.21 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 14 +NX_Q658K8 Putative elongation factor 1-delta-like protein 133 14137 5.94 0 NA NA NA NA Belongs to the EF-1-beta/EF-1-delta family. NA PE5 13 +NX_Q658L1 Stabilizer of axonemal microtubules 2 398 45933 9.12 0 Golgi apparatus;Nucleoplasm NA NA NA Belongs to the FAM154 family. NA PE1 15 +NX_Q658N2 WSC domain-containing protein 1 575 65694 9.34 1 Membrane;Golgi apparatus;Nucleoplasm NA NA NA Belongs to the WSCD family. NA PE1 17 +NX_Q658P3 Metalloreductase STEAP3 488 54601 8.86 6 Cytosol;Nucleolus;Endosome membrane Anemia, hypochromic microcytic, with iron overload 2 Endosomal ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells. Participates in erythroid iron homeostasis by reducing Fe(3+) to Fe(2+). Can also reduce of Cu(2+) to Cu(1+), suggesting that it participates in copper homeostasis. Uses NADP(+) as acceptor. May play a role downstream of p53/TP53 to interface apoptosis and cell cycle progression. Indirectly involved in exosome secretion by facilitating the secretion of proteins such as TCTP. Glycosylated.;Proteolytically cleaved by RHBDL4/RHBDD1. RHBDL4/RHBDD1-induced cleavage occurs at multiple sites in a glycosylation-independent manner. Belongs to the STEAP family. p53 signaling pathway;Transferrin endocytosis and recycling;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release PE1 2 +NX_Q658T7 Putative protein FAM90A2P 463 50084 10.2 0 NA NA NA NA Belongs to the FAM90 family. NA PE5 8 +NX_Q658Y4 Protein FAM91A1 838 93909 5.95 0 trans-Golgi network;Nucleoplasm;Cytoplasmic vesicle;Cytoskeleton NA As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1. NA Belongs to the FAM91 family. NA PE1 8 +NX_Q659A1 Little elongation complex subunit 2 982 110011 6.69 0 Nucleoplasm;Nucleus NA Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. NA Belongs to the ICE2 family. RNA polymerase II transcribes snRNA genes PE1 15 +NX_Q659C4 La-related protein 1B 914 105322 7.33 0 Cytosol NA NA NA Belongs to the LARP family. NA PE1 4 +NX_Q66GS9 Centrosomal protein of 135 kDa 1140 133490 5.87 0 Focal adhesion;Centriole Microcephaly 8, primary, autosomal recessive Involved in early centriole assembly/duplication/biogenesis/formation/. Required for centriole elongation. Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner.;Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of WRAP73 to centrioles. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole. Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner. Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865). NA Belongs to the CEP135/TSGA10 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 4 +NX_Q66K14 TBC1 domain family member 9B 1250 140525 5.14 1 Membrane;Nucleoplasm;Nucleolus;Cell membrane NA May act as a GTPase-activating protein for Rab family protein(s). NA NA NA PE1 5 +NX_Q66K41 Zinc finger protein 385C 424 44235 10.42 0 Nucleus NA NA NA NA NA PE1 17 +NX_Q66K64 DDB1- and CUL4-associated factor 15 600 66463 6.14 0 Cytoplasmic vesicle;Mitochondrion NA May be involved in ubiquitination and degradation through a DBB1-CUL4 E3 protein-ubiquitin ligase. NA NA Protein modification; protein ubiquitination. PE1 19 +NX_Q66K66 Transmembrane protein 198 360 39475 9.97 7 Membrane;Cytoplasmic vesicle;Cell membrane NA Promotes LRP6 phosphorylation by casein kinases and thereby plays a role in Wnt signaling. May be a membrane scaffold protein involved in the self-aggregation of LRP6 to further enhance its activity. NA Belongs to the TMEM198 family. NA PE1 2 +NX_Q66K74 Microtubule-associated protein 1S 1059 112211 6.93 0 Cytosol;Spindle;Nucleus;Cytoskeleton NA Microtubule-associated protein that mediates aggregation of mitochondria resulting in cell death and genomic destruction (MAGD). Plays a role in anchoring the microtubule organizing center to the centrosomes. Binds to DNA. Plays a role in apoptosis. Involved in the formation of microtubule bundles (By similarity). NA Belongs to the MAP1 family. NA PE1 19 +NX_Q66K79 Carboxypeptidase Z 652 73655 8.22 0 Extracellular matrix;Cell membrane NA Cleaves substrates with C-terminal arginine residues. Probably modulates the Wnt signaling pathway, by cleaving some undefined protein. May play a role in cleavage during prohormone processing. NA Belongs to the peptidase M14 family. NA PE1 4 +NX_Q66K80 Putative uncharacterized protein RUSC1-AS1 236 24494 10.2 0 NA NA NA NA NA NA PE5 1 +NX_Q66K89 Transcription factor E4F1 784 83496 5.91 0 Nucleoplasm;Cytoplasm NA May function as a transcriptional repressor. May also function as a ubiquitin ligase mediating ubiquitination of chromatin-associated TP53. Functions in cell survival and proliferation through control of the cell cycle. Functions in the p53 and pRB tumor suppressor pathways and regulates the cyclin CCNA2 transcription.;Identified as a cellular target of the adenoviral oncoprotein E1A, it is required for both transcriptional activation and repression of viral genes. May be sumoylated by UBE2I upon interaction with CDKN2A.;Phosphorylated; p120E4F and p50E4F are both phosphorylated. Phosphorylation is cell cycle-dependent and differentially regulates DNA-binding activity and function of both forms.;Proteolytic cleavage produces a 50 kDa N-terminal peptide (p50E4F) which has a DNA-binding activity and activates transcription in presence of the adenoviral E1A protein. The major full-length protein (p120E4F) functions as a repressor of transcription. NA Protein modification; protein ubiquitination. PE1 16 +NX_Q66LE6 Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform 453 52042 5.96 0 Cytoplasm NA B regulatory subunit of protein phosphatase 2A (PP2A) that plays a key role in cell cycle by controlling mitosis entry and exit. The activity of PP2A complexes containing PPP2R2D (PR55-delta) fluctuate during the cell cycle: the activity is high in interphase and low in mitosis. During mitosis, activity of PP2A is inhibited via interaction with phosphorylated ENSA and ARPP19 inhibitors. Within the PP2A complexes, the B regulatory subunits modulate substrate selectivity and catalytic activity, and also may direct the localization of the catalytic enzyme to a particular subcellular compartment (By similarity). NA Belongs to the phosphatase 2A regulatory subunit B family. mRNA surveillance pathway;Tight junction;Dopaminergic synapse;Chagas disease (American trypanosomiasis);Hepatitis C;MASTL Facilitates Mitotic Progression PE1 10 +NX_Q66PJ3 ADP-ribosylation factor-like protein 6-interacting protein 4 421 44915 10.93 0 Nucleus speckle;Nucleolus NA Involved in modulating alternative pre-mRNA splicing with either 5' distal site activation or preferential use of 3' proximal site. In case of infection by Herpes simplex virus (HSVI), may act as a splicing inhibitor of HSVI pre-mRNA. NA Belongs to the ARL6IP4 family. NA PE1 12 +NX_Q674R7 Autophagy-related protein 9B 924 101019 8.62 6 Autophagosome membrane NA Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for formation of the sequestering vesicle (By similarity). NA Belongs to the ATG9 family. Macroautophagy PE1 7 +NX_Q674X7 Kazrin 775 86351 6.57 0 Cytoplasm;Nucleus speckle;Desmosome;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA Component of the cornified envelope of keratinocytes. May be involved in the interplay between adherens junctions and desmosomes. The function in the nucleus is not known. NA Belongs to the kazrin family. Formation of the cornified envelope PE1 1 +NX_Q676U5 Autophagy-related protein 16-1 607 68265 6.2 0 Cytoplasm;Cytosol;Preautophagosomal structure membrane Inflammatory bowel disease 10 Plays an essential role in autophagy: interacts with ATG12-ATG5 to mediate the conjugation of phosphatidylethanolamine (PE) to LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C), to produce a membrane-bound activated form of LC3 named LC3-II. Thereby, controls the elongation of the nascent autophagosomal membrane (PubMed:24553140, PubMed:23376921, PubMed:24954904, PubMed:27273576, PubMed:23392225). Regulates mitochondrial antiviral signaling (MAVS)-dependent type I interferon (IFN-I) production (PubMed:25645662). Negatively regulates NOD1- and NOD2-driven inflammatory cytokine response (PubMed:24238340). Instead, promotes with NOD2 an autophagy-dependent antibacterial pathway (PubMed:20637199). Plays a role in regulating morphology and function of Paneth cell (PubMed:18849966). Phosphorylation at Ser-139 promotes association with the ATG12-ATG5 conjugate to form the ATG12-ATG5-ATG16L1 complex.;Proteolytic cleavage by activated CASP3 leads to degradation and may regulate autophagy upon cellular stress and apoptotic stimuli. Belongs to the WD repeat ATG16 family. Macroautophagy PE1 2 +NX_Q67FW5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 361 40713 6.97 0 Nucleolus NA Putative glycosyltransferase. NA Belongs to the glycosyltransferase 2 family. O-linked glycosylation of mucins PE1 17 +NX_Q684P5 Rap1 GTPase-activating protein 2 730 80056 6.22 0 Cytoplasm;Cytosol;Perinuclear region;Nucleus membrane NA GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state. In vitro phosphorylated by cGMP-dependent protein kinase 1 (cGKI) at Ser-7; the phosphorylation probably does not regulate GAP activity. NA Rap1 signalling PE1 17 +NX_Q685J3 Mucin-17 4493 451741 4.03 1 Secreted;Cell membrane NA Probably plays a role in maintaining homeostasis on mucosal surfaces. N-glycosylated. Contains high mannose and complex-type glycans. The forms containing the complex type glycans localize to the cell surface. Not O-glycosylated.;Probably cleaved within the SEA domain. NA O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1) PE1 7 +NX_Q687X5 Metalloreductase STEAP4 459 51981 9.39 6 Early endosome membrane;Nucleoplasm;Golgi apparatus membrane;Cell membrane NA Integral membrane protein that functions as NADPH-dependent ferric-chelate reductase, using NADPH from one side of the membrane to reduce a Fe(3+) chelate that is bound on the other side of the membrane. Mediates sequential transmembrane electron transfer from NADPH to FAD and onto heme, and finally to the Fe(3+) chelate (PubMed:30337524). Can also reduce Cu(2+) to Cu(1+) (By similarity). Plays a role in systemic metabolic homeostasis, integrating inflammatory and metabolic responses (By similarity). Associated with obesity and insulin-resistance (PubMed:18430367, PubMed:18381574). Involved in inflammatory arthritis, through the regulation of inflammatory cytokines (PubMed:19660107). Inhibits anchorage-independent cell proliferation (PubMed:19787193). NA Belongs to the STEAP family. NA PE1 7 +NX_Q68BL7 Olfactomedin-like protein 2A 652 73054 7.89 0 Nucleoplasm;Cytosol;Secreted NA NA O-glycosylated but not N-glycosylated.;May be cleaved at Lys-295 after secretion. NA NA PE1 9 +NX_Q68BL8 Olfactomedin-like protein 2B 750 83999 5.07 0 Cytosol;Secreted NA NA O-glycosylated and N-glycosylated. NA NA PE1 1 +NX_Q68CJ6 Nuclear GTPase SLIP-GC 796 91132 8.85 0 Nucleus speckle NA Nuclear GTPase found in germinal center B-cells, where it may inhibit function of the activation-induced cytidine deaminase AICDA (PubMed:19734146). Reduces somatic hypermutation in B-cells which may enhance genome stability (By similarity). NA NA NA PE1 8 +NX_Q68CJ9 Cyclic AMP-responsive element-binding protein 3-like protein 3 461 49077 4.99 1 Endoplasmic reticulum membrane;Nucleus NA Transcription factor that may act during endoplasmic reticulum stress by activating unfolded protein response target genes. Activated in response to cAMP stimulation. In vitro, binds to the cAMP response element (CRE) and box-B element. Activates transcription through box-B element. Activates transcription through CRE (By similarity). Seems to function synergistically with ATF6. In acute inflammatory response, may activate expression of acute phase response (APR) genes. May be involved in growth suppression. N- and O-glycosylated. N-glycosylation is required for optimal proteolytic activation. O-glycosylated with core 1 or possibly core 8 glycans.;Controlled by regulated intramembrane proteolysis (RIP). Following ER stress a fragment containing the cytoplasmic transcription factor domain is released by proteolysis. The cleavage seems to be performed sequentially by site-1 and site-2 proteases (PS1 and PS2). Belongs to the bZIP family. ATF subfamily. Cholinergic synapse;Dopaminergic synapse;Melanogenesis;Vasopressin-regulated water reabsorption;Huntington's disease;Prostate cancer;CREB3 factors activate genes;Assembly of active LPL and LIPC lipase complexes PE1 19 +NX_Q68CK6 Acyl-coenzyme A synthetase ACSM2B, mitochondrial 577 64271 8.5 0 Mitochondrion NA Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (PubMed:10434065, PubMed:12616642). Capable of activating medium-chain fatty acids (e.g. Butyric (C4) to decanoic (C10) acids), and certain carboxylate-containing xenobiotics, e.g. Benzoate (PubMed:10434065, PubMed:12616642). NA Belongs to the ATP-dependent AMP-binding enzyme family. Butanoate metabolism;Metabolic pathways;Conjugation of salicylate with glycine;Conjugation of benzoate with glycine;Conjugation of phenylacetate with glutamine PE1 16 +NX_Q68CL5 Tubulin polyglutamylase complex subunit 2 300 33318 6.25 0 Cytoskeleton NA NA NA NA Carboxyterminal post-translational modifications of tubulin PE1 18 +NX_Q68CP4 Heparan-alpha-glucosaminide N-acetyltransferase 663 73293 8.69 11 Lysosome membrane Mucopolysaccharidosis 3C;Retinitis pigmentosa 73 Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase. Glycosylated.;Undergoes intralysosomal proteolytic cleavage; occurs within the end of the first and/or the beginning of the second luminal domain and is essential for the activation of the enzyme. NA Glycosaminoglycan degradation;Metabolic pathways;Lysosome;HS-GAG degradation;MPS IIIC - Sanfilippo syndrome C;Neutrophil degranulation PE1 8 +NX_Q68CP9 AT-rich interactive domain-containing protein 2 1835 197391 7.08 0 Nucleoplasm;Nucleus;Cell membrane Coffin-Siris syndrome 6 Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). May be involved in targeting the complex to different genes. May be involved in regulating transcriptional activation of cardiac genes. NA NA RMTs methylate histone arginines;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 12 +NX_Q68CQ1 Maestro heat-like repeat-containing protein family member 7 1323 145647 6.51 2 Membrane NA NA NA NA NA PE1 1 +NX_Q68CQ4 Digestive organ expansion factor homolog 756 87055 5.6 0 Nucleolus;Nucleus NA Regulates the p53 pathway to control the expansion growth of digestive organs. NA Belongs to the def family. rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 1 +NX_Q68CQ7 Glycosyltransferase 8 domain-containing protein 1 371 41935 9.37 1 Membrane;Mitochondrion NA NA NA Belongs to the glycosyltransferase 8 family. NA PE1 3 +NX_Q68CR1 Protein sel-1 homolog 3 1132 128567 6.87 1 Membrane;Nucleoplasm NA NA NA NA NA PE1 4 +NX_Q68CR7 Leucine-rich repeat-containing protein 66 880 97778 6.01 2 Membrane NA NA NA NA NA PE1 4 +NX_Q68CZ1 Protein fantom 1315 151201 5.21 0 Cytoplasm;Cell membrane;Cilium basal body;Tight junction;Centrosome;Cilium axoneme;Cytosol COACH syndrome;Meckel syndrome 5;Joubert syndrome 7 Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R) (PubMed:19464661). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity). Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis (PubMed:19464661). Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins (By similarity). Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2 (By similarity). NA Belongs to the RPGRIP1 family. Anchoring of the basal body to the plasma membrane;Hedgehog 'off' state PE1 16 +NX_Q68CZ2 Tensin-3 1445 155266 6.34 0 Focal adhesion NA May play a role in actin remodeling. Involved in the dissociation of the integrin-tensin-actin complex. EGF activates TNS4 and down-regulates TNS3 which results in capping the tail of ITGB1. Seems to be involved in mammary cell migration. May be involved in cell migration and bone development (By similarity). EGF/epidermal growth factor induces tyrosine phosphorylation in a time- and dose-dependent manner. NA MET interacts with TNS proteins PE1 7 +NX_Q68CZ6 HAUS augmin-like complex subunit 3 603 69650 5.4 0 Spindle;Mitochondrion;Centrosome;Cytoskeleton NA Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. NA Belongs to the HAUS3 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 4 +NX_Q68D06 Schlafen family member 13 897 102045 6.55 0 Cytoplasm;Cytoskeleton NA Endoribonuclease that cleaves tRNAs and rRNAs (PubMed:29563550). Cleaves tRNAs 11 nucleotides from the 3'-terminus at the acceptor stem (PubMed:29563550). Does not act on tRNA(Sec) (PubMed:29563550). Able to restrict HIV-1 virus replication; ability to inhibit HIV-1 replication is dependent on endoribonuclease activity (PubMed:29563550). NA Belongs to the Schlafen family. Subgroup III subfamily. NA PE1 17 +NX_Q68D10 Protein SPT2 homolog 685 75599 9.79 0 Nucleoplasm;Nucleus;Nucleolus NA Histone chaperone that stabilizes pre-existing histone tetramers and regulates replication-independent histone exchange on chromatin (PubMed:26109053). Required for normal chromatin refolding in the coding region of transcribed genes, and for the suppression of spurious transcription (PubMed:26109053). Binds DNA and histones and promotes nucleosome assembly (in vitro) (PubMed:23378026, PubMed:26109053). Facilitates formation of tetrameric histone complexes containing histone H3 and H4 (PubMed:26109053). Modulates RNA polymerase 1-mediated transcription (By similarity). Binds DNA, with a preference for branched DNA species, such as Y-form DNA and Holliday junction DNA (PubMed:23378026). SPTY2D1 is phosphorylated by PTK6 Belongs to the SPT2 family. NA PE1 11 +NX_Q68D20 Protein PMS2CL 193 20909 5.15 0 NA NA NA NA Belongs to the DNA mismatch repair MutL/HexB family. NA PE1 7 +NX_Q68D42 Transmembrane protein 215 235 25806 5.23 2 Membrane;Endoplasmic reticulum;Nucleoplasm;Cytoplasmic vesicle NA NA NA NA NA PE2 9 +NX_Q68D51 DENN domain-containing protein 2C 928 106865 8.75 0 Nucleoplasm NA Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. NA NA RAB GEFs exchange GTP for GDP on RABs PE1 1 +NX_Q68D85 Natural cytotoxicity triggering receptor 3 ligand 1 454 50827 5.39 1 Cell membrane NA Triggers NCR3-dependent natural killer cell activation. NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 11 +NX_Q68D86 Coiled-coil domain-containing protein 102B 513 60448 5.71 0 Cytosol;Mitochondrion NA NA NA NA NA PE1 18 +NX_Q68D91 Metallo-beta-lactamase domain-containing protein 2 279 31372 6.41 0 Nucleoplasm;Mitochondrion NA NA NA Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family. NA PE1 5 +NX_Q68DA7 Formin-1 1419 157578 8.67 0 Cytoplasm;Cell membrane;Adherens junction;Nucleoplasm;Cytosol;Nucleus NA Plays a role in the formation of adherens junction and the polymerization of linear actin cables. Phosphorylated on serine and possibly threonine residues. Belongs to the formin homology family. Cappuccino subfamily. NA PE1 15 +NX_Q68DC2 Ankyrin repeat and SAM domain-containing protein 6 871 92219 6.91 0 Cytoplasm;Cilium;Nucleolus;Nucleoplasm;Cytosol Nephronophthisis 16 Required for renal function. Hydroxylated at Asn-138, most probably by HIF1AN. This hydroxylation results in decreased NEK8-binding. NA NA PE1 9 +NX_Q68DD2 Cytosolic phospholipase A2 zeta 849 95082 5.28 0 Nucleoplasm;Cytosol;Lysosome membrane;Cytoplasmic vesicle NA Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position. Has higher enzyme activity for phosphatidylethanolamine than phosphatidylcholine (By similarity). NA NA Fc gamma R-mediated phagocytosis;Acyl chain remodelling of PG;Acyl chain remodelling of PC;Acyl chain remodelling of PS;Acyl chain remodelling of PE;Acyl chain remodelling of PI;Hydrolysis of LPC PE1 15 +NX_Q68DE3 Basic helix-loop-helix domain-containing protein USF3 2245 241653 7.41 0 Nucleoplasm;Nucleolus;Centrosome;Nucleus NA Involved in the negative regulation of epithelial-mesenchymal transition, the process by which epithelial cells lose their polarity and adhesion properties to become mesenchymal cells with enhanced migration and invasive properties. NA NA NA PE1 3 +NX_Q68DH5 G-protein coupled receptor-associated protein LMBRD2 695 81172 7.25 9 Nucleoplasm;Cytosol;Cell membrane NA Recruited to ligand-activated beta-2 adrenergic receptor/ADRB2, it negatively regulates the adrenergic receptor signaling pathway (PubMed:28388415). May also regulate other G-protein coupled receptors including type-1 angiotensin II receptor/AGTR1 (Probable). NA Belongs to the LIMR family. NA PE1 5 +NX_Q68DI1 Zinc finger protein 776 518 59613 8.68 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q68DK2 Zinc finger FYVE domain-containing protein 26 2539 284576 5.97 0 Centrosome;Midbody Spastic paraplegia 15, autosomal recessive Phosphatidylinositol 3-phosphate-binding protein required for the abcission step in cytokinesis: recruited to the midbody during cytokinesis and acts as a regulator of abcission. May also be required for efficient homologous recombination DNA double-strand break repair. NA NA NA PE1 14 +NX_Q68DK7 Male-specific lethal 1 homolog 614 67128 9.1 0 Nucleoplasm;Nucleus speckle;Nucleus NA Component of histone acetyltransferase complex responsible for the majority of histone H4 acetylation at 'Lys-16' (H4K16ac) which is implicated in the formation of higher-order chromatin structure (PubMed:16227571). Greatly enhances MSL2 E3 ubiquitin ligase activity, promoting monoubiquitination of histone H2B at 'Lys-34' (H2BK34Ub) (PubMed:21726816). This modification in turn stimulates histone H3 methylation at 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) and leads to gene activation, including that of HOXA9 and MEIS1 (PubMed:21726816). In the MSL complex, acts as a scaffold to tether MSL3 and KAT8 together for enzymatic activity regulation (PubMed:22547026). Sumoylated with SUMO1. Belongs to the msl-1 family. HATs acetylate histones PE1 17 +NX_Q68DL7 Uncharacterized protein C18orf63 685 77230 9.83 0 Mitochondrion NA NA NA NA NA PE1 18 +NX_Q68DN1 Uncharacterized protein C2orf16 1984 224321 10.09 0 Nucleus NA NA NA NA NA PE1 2 +NX_Q68DQ2 Very large A-kinase anchor protein 2970 330633 5.1 0 Nucleoplasm;Cytosol NA Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA). NA Belongs to the beta/gamma-crystallin family. NA PE1 3 +NX_Q68DU8 BTB/POZ domain-containing protein KCTD16 428 49138 8.4 0 Nucleus speckle;Presynaptic cell membrane;Postsynaptic cell membrane NA Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity). NA NA NA PE1 5 +NX_Q68DV7 E3 ubiquitin-protein ligase RNF43 783 85722 8.1 1 Endoplasmic reticulum membrane;Nucleus envelope;Cell membrane Sessile serrated polyposis cancer syndrome E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination, endocytosis and subsequent degradation of Wnt receptor complex components Frizzled. Acts on both canonical and non-canonical Wnt signaling pathway (PubMed:18313049, PubMed:22575959, PubMed:22895187). Along with RSPO2 and ZNRF3, constitutes a master switch that governs limb specification (By similarity). Autoubiquitinated. Belongs to the ZNRF3 family. Protein modification; protein ubiquitination.;Regulation of FZD by ubiquitination;RNF mutants show enhanced WNT signaling and proliferation PE1 17 +NX_Q68DX3 FERM and PDZ domain-containing protein 2 1309 144282 6.29 0 Cytoplasm;Tight junction;Basolateral cell membrane NA May play a role in the regulation of tight junction formation. Binds phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2). NA NA NA PE1 10 +NX_Q68DY1 Zinc finger protein 626 528 60893 9.29 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus membrane;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 19 +NX_Q68DY9 Zinc finger protein 772 489 55367 7.78 0 Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q68E01 Integrator complex subunit 3 1043 118070 5.53 0 Nucleoplasm;Nucleolus;Cytoplasm;Nucleus NA Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. The SOSS complex associates with single-stranded DNA at DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. The SOSS complex is required for efficient homologous recombination-dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways. In the SOSS complex, it is required for the assembly of the complex and for stabilization of the complex at DNA damage sites.;Component of the Integrator (INT) complex. The Integrator complex is involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267). NA Belongs to the Integrator subunit 3 family. RNA polymerase II transcribes snRNA genes PE1 1 +NX_Q68EA5 Zinc finger protein 57 555 64428 9.06 0 Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q68EM7 Rho GTPase-activating protein 17 881 95437 7.22 0 Cytoplasm;Cell membrane;Membrane;Nucleoplasm;Tight junction;Cytosol NA Rho GTPase-activating protein involved in the maintenance of tight junction by regulating the activity of CDC42, thereby playing a central role in apical polarity of epithelial cells. Specifically acts as a GTPase activator for the CDC42 GTPase by converting it to an inactive GDP-bound state. The complex formed with AMOT acts by regulating the uptake of polarity proteins at tight junctions, possibly by deciding whether tight junction transmembrane proteins are recycled back to the plasma membrane or sent elsewhere. Participates in the Ca(2+)-dependent regulation of exocytosis, possibly by catalyzing GTPase activity of Rho family proteins and by inducing the reorganization of the cortical actin filaments. Acts as a GTPase activator in vitro for RAC1. NA NA Rho GTPase cycle PE1 16 +NX_Q68EN5 Uncharacterized protein KIAA0895-like 471 53446 9.27 0 Nucleoplasm;Cytoplasmic vesicle NA NA NA NA NA PE1 16 +NX_Q68G74 LIM/homeobox protein Lhx8 356 39301 8.61 0 Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Transcription factor involved in differentiation of certain neurons and mesenchymal cells. NA NA NA PE1 1 +NX_Q68G75 LEM domain-containing protein 1 181 20326 8.74 1 Membrane;Cytosol;Nucleolus NA NA NA NA NA PE1 1 +NX_Q68J44 Dual specificity phosphatase DUPD1 220 25336 5.68 0 Cytoplasm NA Dual specificity phosphatase able to dephosphorylate phosphotyrosine, phosphoserine and phosphothreonine residues, with a preference for phosphotyrosine as a substrate. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. NA PE1 10 +NX_Q69383 Endogenous retrovirus group K member 6 Rec protein 105 11828 10.22 0 Cytoplasm;Nucleolus NA Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts. NA NA NA PE1 7 +NX_Q69384 Endogenous retrovirus group K member 6 Env polyprotein 699 79218 9.14 1 Virion;Cell membrane NA Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.;SU mediates receptor recognition.;TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity). Specific enzymatic cleavages in vivo yield the mature SU and TM proteins. Belongs to the beta type-B retroviral envelope protein family. HERV class-II K(HML-2) env subfamily. NA PE1 7 +NX_Q693B1 BTB/POZ domain-containing protein KCTD11 232 25887 6.2 0 Nucleoplasm NA Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor. Induces apoptosis, growth arrest and the expression of cyclin-dependent kinase inhibitor CDKN1B. Plays a role as a tumor repressor and inhibits cell growth and tumorigenicity of medulloblastoma (MDB). Acts as probable substrate-specific adapter for a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex towards HDAC1. Functions as antagonist of the Hedgehog pathway on cell proliferation and differentiation by affecting the nuclear transfer of transcription factor GLI1, thus maintaining cerebellar granule cells in undifferentiated state, this effect probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. When knock-down, Hedgehog antagonism is impaired and proliferation of granule cells is sustained. Activates the caspase cascade. NA NA Protein modification; protein ubiquitination. PE1 17 +NX_Q695T7 Sodium-dependent neutral amino acid transporter B(0)AT1 634 71110 4.92 12 Apical cell membrane;Cell membrane Hartnup disorder;Iminoglycinuria;Hyperglycinuria Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells (PubMed:18424768, PubMed:18484095, PubMed:19185582, PubMed:26240152). This uptake is sodium-dependent and chloride-independent (PubMed:19185582, PubMed:15286788). Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity (PubMed:19185582, PubMed:18424768). NA Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A19 subfamily. Protein digestion and absorption;Mineral absorption;Amino acid transport across the plasma membrane;Na+/Cl- dependent neurotransmitter transporters;Defective SLC6A19 causes Hartnup disorder (HND);Defective SLC6A19 causes Hartnup disorder (HND) PE1 5 +NX_Q69YG0 Transmembrane protein 42 159 16991 8.97 4 Membrane;Nucleoplasm;Nucleolus NA NA NA NA NA PE1 3 +NX_Q69YH5 Cell division cycle-associated protein 2 1023 112676 8.71 0 Nucleoplasm;Nucleus NA Regulator of chromosome structure during mitosis required for condensin-depleted chromosomes to retain their compact architecture through anaphase. Acts by mediating the recruitment of phopsphatase PP1-gamma subunit (PPP1CC) to chromatin at anaphase and into the following interphase. At anaphase onset, its association with chromatin targets a pool of PPP1CC to dephosphorylate substrates. Phosphorylated by CDK1. May regulate its subcellular location. NA NA PE1 8 +NX_Q69YI7 Nuclear apoptosis-inducing factor 1 327 35164 6.73 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA Induces apoptosis. NA Belongs to the NAIF1 family. NA PE1 9 +NX_Q69YL0 Protein NCBP2AS2 99 10891 12 0 NA NA NA NA NA NA PE1 3 +NX_Q69YN2 CWF19-like protein 1 538 60619 6.87 0 Golgi apparatus;Nucleoplasm Spinocerebellar ataxia, autosomal recessive, 17 NA NA Belongs to the CWF19 family. NA PE1 10 +NX_Q69YN4 Protein virilizer homolog 1812 202025 4.9 0 Nucleoplasm;Cytoplasm;Nucleus speckle;Nucleus NA Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:24981863, PubMed:29507755). Acts as a key regulator of m6A methylation by promoting m6A methylation of mRNAs in the 3'-UTR near the stop codon: recruits the catalytic core components METTL3 and METTL14, thereby guiding m6A methylation at specific sites (PubMed:29507755). Required for mRNA polyadenylation via its role in selective m6A methylation: m6A methylation of mRNAs in the 3'-UTR near the stop codon correlating with alternative polyadenylation (APA) (PubMed:29507755). NA Belongs to the vir family. NA PE1 8 +NX_Q69YQ0 Cytospin-A 1117 124602 5.52 0 Spindle;Gap junction;Cytoskeleton Facial clefting, oblique, 1;Opitz GBBB syndrome 2;Hypertelorism, Teebi type Involved in cytokinesis and spindle organization. May play a role in actin cytoskeleton organization and microtubule stabilization and hence required for proper cell adhesion and migration. NA Belongs to the cytospin-A family. NA PE1 22 +NX_Q69YU3 Ankyrin repeat domain-containing protein 34A 496 52636 9.5 0 Cytosol NA NA Methylated at Gln-15 by N6AMT1. Belongs to the ANKRD34 family. NA PE1 1 +NX_Q69YU5 Uncharacterized protein C12orf73 71 8023 9.21 0 Centrosome;Mitochondrion;Secreted;Cell membrane NA NA NA NA NA PE1 12 +NX_Q69YW2 Protein stum homolog 141 15007 6.7 2 Membrane;Cytosol;Cell membrane NA NA NA Belongs to the SPEC3 family. Stum subfamily. NA PE1 1 +NX_Q69YZ2 Transmembrane protein 200B 307 32750 11.44 2 Membrane NA NA NA Belongs to the TMEM200 family. NA PE1 1 +NX_Q6A162 Keratin, type I cytoskeletal 40 431 48139 4.35 0 NA NA May play a role in late hair differentiation. NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_Q6A163 Keratin, type I cytoskeletal 39 491 55651 5.19 0 NA NA May play a role in late hair differentiation. NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_Q6A1A2 Putative 3-phosphoinositide-dependent protein kinase 2 396 44765 8.61 0 Membrane;Cytoplasm NA Phosphorylates and activates not only PKB/AKT, but also PKA, PKC-zeta, RPS6KA1 and RPS6KB1. May play a general role in signaling processes and in development (By similarity). Phosphorylated on tyrosine and serine/threonine. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PDPK1 subfamily. NA PE5 16 +NX_Q6A555 Thioredoxin domain-containing protein 8 127 14575 9.56 0 Golgi apparatus;Cytoplasm NA May be required for post-translational modifications of proteins required for acrosomal biogenesis. May act by reducing disulfide bonds within the sperm. NA Belongs to the thioredoxin family. NA PE1 9 +NX_Q6AHZ1 Zinc finger protein 518A 1483 166782 9.38 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 10 +NX_Q6AI08 HEAT repeat-containing protein 6 1181 128781 6.64 0 Mitochondrion NA Amplification-dependent oncogene. NA NA NA PE1 17 +NX_Q6AI12 Ankyrin repeat domain-containing protein 40 368 41088 4.88 0 Golgi apparatus;Cytosol;Nucleolus NA NA NA NA NA PE1 17 +NX_Q6AI14 Sodium/hydrogen exchanger 4 798 89814 8.76 10 Cell membrane;Basolateral cell membrane;Nucleoplasm;Cytoplasmic granule membrane;Apical cell membrane NA Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction. May play a specialized role in the kidney in rectifying cell volume in response to extreme fluctuations of hyperosmolar-stimulated cell shrinkage. Is relatively amiloride and ethylisopropylamiloride (EIPA) insensitive. Can be activated under conditions of hyperosmolar-induced cell shrinkage in a sustained intracellular acidification-dependence manner. Activated by 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid (DIDS) in a sustained intracellular acidification-dependence manner. Affects potassium/proton exchange as well as sodium/proton and lithium/proton exchange. In basolateral cell membrane, participates in homeostatic control of intracellular pH, and may play a role in proton extrusion in order to achieve transepithelial HCO3(-) secretion. In apical cell membrane may be involved in mediating sodium absorption. Requires for normal levels of gastric acid secretion, secretory membrane development, parietal cell maturation and/or differentiation and at least secondarily for chief cell differentiation (By similarity). May be phosphorylated. Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. Gastric acid secretion;Sodium/Proton exchangers PE2 2 +NX_Q6AI39 BRD4-interacting chromatin-remodeling complex-associated protein-like 1079 115084 6.38 0 Nucleoplasm NA Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. NA NA NA PE1 6 +NX_Q6AW86 Zinc finger protein 324B 544 60602 9.78 0 Nucleolus;Nucleus;Cytosol NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q6AWC2 Protein WWC2 1192 133891 5.4 0 Cytoskeleton NA NA NA Belongs to the WWC family. NA PE1 4 +NX_Q6AWC8 Putative uncharacterized protein LOC100129027 147 16804 9.84 0 NA NA NA NA NA NA PE5 11 +NX_Q6AZW8 Zinc finger protein 660 331 38270 9.46 0 Nucleolus;Nucleus;Cytosol NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 3 +NX_Q6AZY7 Scavenger receptor class A member 3 606 65137 6.08 1 Golgi apparatus;Endoplasmic reticulum membrane;Endoplasmic reticulum;Golgi apparatus membrane;Cytosol NA Seems to protect cells by scavenging oxidative molecules or harmful products of oxidation. NA NA NA PE1 8 +NX_Q6AZZ1 E3 ubiquitin-protein ligase TRIM68 485 56259 6.07 0 Nucleoplasm;Cytosol;Perinuclear region;Nucleus NA Functions as a ubiquitin E3 ligase. Acts as a coactivator of androgen receptor (AR) depending on its ubiquitin ligase activity. Auto-ubiquitinated. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Interferon gamma signaling PE1 11 +NX_Q6B0B8 Tigger transposable element-derived protein 3 471 52027 7.12 0 Nucleoplasm;Nucleus membrane;Nucleus NA NA NA Belongs to the tigger transposable element derived protein family. NA PE1 11 +NX_Q6B0I6 Lysine-specific demethylase 4D 523 58603 9.28 0 Nucleoplasm;Nucleus NA Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27', H3 'Lys-36' nor H4 'Lys-20'. Demethylates both di- and trimethylated H3 'Lys-9' residue, while it has no activity on monomethylated residues. Demethylation of Lys residue generates formaldehyde and succinate. NA Belongs to the JHDM3 histone demethylase family. HDMs demethylate histones PE1 11 +NX_Q6B0K9 Hemoglobin subunit mu 141 15618 6.12 0 NA NA NA NA Belongs to the globin family. NA PE1 16 +NX_Q6B8I1 Dual specificity protein phosphatase 13 isoform A 188 20658 7.08 0 Cytoplasm NA Probable protein tyrosine phosphatase. Has phosphatase activity with synthetic substrates (PubMed:15252030, PubMed:29106959). Has a phosphatase activity-independent regulatory role in MAP3K5/ASK1-mediated apoptosis, preventing MAP3K5/ASK1 inhibition by AKT1. Shows no phosphatase activity on MAPK1/ERK2, MAPK8/JNK, MAPK14/p38 and MAP3K5/ASK1. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. NA PE1 10 +NX_Q6B9Z1 Insulin growth factor-like family member 4 124 13885 6.06 0 Cytosol;Secreted NA NA NA Belongs to the IGFL family. NA PE2 19 +NX_Q6BAA4 Fc receptor-like B 426 46904 9.16 0 Endoplasmic reticulum;Cytosol;Cytoplasm NA NA NA NA NA PE1 1 +NX_Q6BCY4 NADH-cytochrome b5 reductase 2 276 31458 8.49 0 Golgi apparatus;Nucleoplasm NA NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (By similarity). Responsible for NADH-dependent lucigenin chemiluminescence in spermatozoa by reducing both lucigenin and 2-[4-iodophenyl]-3-[4-nitrophenyl]-5-[2,4-disulfophenyl]-2H tetrazolium monosodium salt (WST-1). NA Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family. Amino sugar and nucleotide sugar metabolism;Erythrocytes take up carbon dioxide and release oxygen PE1 11 +NX_Q6BDI9 Rab15 effector protein 236 26571 6.89 0 Early endosome membrane NA Regulates transferrin receptor recycling from the endocytic recycling compartment. NA NA NA PE1 12 +NX_Q6BDS2 UHRF1-binding protein 1 1440 159485 5.75 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus membrane NA May act as a negative regulator of cell growth. NA NA NA PE1 6 +NX_Q6BEB4 Transcription factor Sp5 398 41964 9.43 0 Nucleoplasm;Nucleolus;Nucleus NA Binds to GC boxes promoters elements. Probable transcriptional activator that has a role in the coordination of changes in transcription required to generate pattern in the developing embryo (By similarity). NA Belongs to the Sp1 C2H2-type zinc-finger protein family. NA PE1 2 +NX_Q6DCA0 AMMECR1-like protein 310 34499 9.18 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 2 +NX_Q6DD87 Zinc finger protein 787 382 40428 8.25 0 Nucleoplasm;Nucleus;Mitochondrion;Nucleolus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q6DD88 Atlastin-3 541 60542 5.43 2 Endoplasmic reticulum;Endoplasmic reticulum membrane Neuropathy, hereditary sensory, 1F GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis (PubMed:18270207, PubMed:19665976, PubMed:27619977). NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily. NA PE1 11 +NX_Q6DHV5 Protein CC2D2B 1058 122955 6.68 0 Nucleolus NA NA NA NA NA PE2 10 +NX_Q6DHV7 Adenosine deaminase-like protein 355 40264 5.89 0 Cytoskeleton NA Putative nucleoside deaminase. May catalyze the hydrolytic deamination of adenosine or some similar substrate and play a role in purine metabolism (By similarity). NA Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family. Abacavir metabolism;Purine salvage PE1 15 +NX_Q6DHY5 TBC1 domain family member 3G 549 62231 9.2 0 Cell membrane NA Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination.;Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation. NA NA PE1 17 +NX_Q6DJT9 Zinc finger protein PLAG1 500 55909 8.84 0 Nucleus speckle;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Transcription factor whose activation results in up-regulation of target genes, such as IGFII, leading to uncontrolled cell proliferation: when overexpressed in cultured cells, higher proliferation rate and transformation are observed. Other target genes such as CRLF1, CRABP2, CRIP2, PIGF are strongly induced in cells with PLAG1 induction. Proto-oncogene whose ectopic expression can trigger the development of pleomorphic adenomas of the salivary gland and lipoblastomas. Overexpression is associated with up-regulation of IGFII, is frequently observed in hepatoblastoma, common primary liver tumor in childhood. Cooperates with CBFB-MYH11, a fusion gene important for myeloid leukemia. Sumoylated with SUMO1; which inhibits transcriptional activity, but does not affect nuclear localization. Blockers of sumoylation pathway such as SENP3 and inactive UBE2I increases transcriptional capacity. Sumoylation is increased in the presence of PIAS1.;Acetylated by lysine acetyltransferase EP300; which activates transcriptional capacity. Lysine residues that are sumoylated also seem to be target for acetylation. Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 8 +NX_Q6DKI1 60S ribosomal protein L7-like 1 255 29669 10.52 0 Mitochondrion;Nucleolus NA NA NA Belongs to the universal ribosomal protein uL30 family. NA PE1 6 +NX_Q6DKI2 Galectin-9C 356 39607 9.36 0 NA NA Binds galactosides. NA NA NA PE1 17 +NX_Q6DKI7 Transmembrane protein PVRIG 326 34344 9.27 3 Endoplasmic reticulum;Nucleolus;Cell membrane NA Cell surface receptor for NECTIN2. May act as a coinhibitory receptor that suppresses T-cell receptor-mediated signals. Following interaction with NECTIN2, inhibits T-cell proliferation. Competes with CD226 for NECTIN2-binding. NA NA NA PE1 7 +NX_Q6DKJ4 Nucleoredoxin 435 48392 4.88 0 Golgi apparatus;Cytosol;Nucleus NA Functions as a redox-dependent negative regulator of the Wnt signaling pathway, possibly by preventing ubiquitination of DVL3 by the BCR(KLHL12) complex. May also function as a transcriptional regulator act as a regulator of protein phosphatase 2A (PP2A) (By similarity). NA Belongs to the nucleoredoxin family. NA PE1 17 +NX_Q6DKK2 Tetratricopeptide repeat protein 19, mitochondrial 380 42457 5.57 0 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex III deficiency, nuclear 2 Required for the preservation of the structural and functional integrity of mitochondrial respiratory complex III by allowing the physiological turnover of the Rieske protein UQCRFS1 (PubMed:21278747, PubMed:28673544). Involved in the clearance of UQCRFS1 N-terminal fragments, which are produced upon incorporation of UQCRFS1 into the complex III and whose presence is detrimental for its catalytic activity (PubMed:28673544). NA Belongs to the TTC19 family. NA PE1 17 +NX_Q6DN03 Putative histone H2B type 2-C 193 21472 10.7 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes. Belongs to the histone H2B family. NA PE5 1 +NX_Q6DN12 Multiple C2 and transmembrane domain-containing protein 2 878 99596 7.48 2 Membrane;Nucleoplasm;Cytosol NA Might play a role in the development of cardiac outflow tract. NA Belongs to the MCTP family. NA PE1 15 +NX_Q6DN14 Multiple C2 and transmembrane domain-containing protein 1 999 111624 8.39 2 Endoplasmic reticulum membrane;Recycling endosome;Nucleoplasm;Synaptic vesicle membrane;Cytosol NA Calcium sensor which is essential for the stabilization of normal baseline neurotransmitter release and for the induction and long-term maintenance of presynaptic homeostatic plasticity. NA Belongs to the MCTP family. NA PE1 5 +NX_Q6DN72 Fc receptor-like protein 6 434 47748 7.53 1 Cell membrane NA Acts as a MHC class II receptor (PubMed:20519654). When stimulated on its own, does not play a role in cytokine production or the release of cytotoxic granules by NK cells and cytotoxic CD8(+) T cells (PubMed:17213291, PubMed:18991291). Does not act as an Fc receptor (PubMed:18991291). Phosphorylated on Tyr residues. Tyrosine phosphorylation induces association with phosphatase PTPN11, PTPN6, INPP5D, INPPL1 and GRB2. NA NA PE1 1 +NX_Q6DN90 IQ motif and SEC7 domain-containing protein 1 963 108314 6.49 0 Cytoplasm;Nucleolus;Nucleus;Cytoplasmic vesicle NA Guanine nucleotide exchange factor for ARF1 and ARF6 (PubMed:24058294). Guanine nucleotide exchange factor activity is enhanced by lipid binding (PubMed:24058294). Accelerates GTP binding by ARFs of all three classes. Guanine nucleotide exchange protein for ARF6, mediating internalisation of beta-1 integrin. NA Belongs to the BRAG family. Endocytosis PE1 3 +NX_Q6DRA6 Putative histone H2B type 2-D 164 18018 10.6 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes. Belongs to the histone H2B family. NA PE5 1 +NX_Q6DT37 Serine/threonine-protein kinase MRCK gamma 1551 172459 5.91 0 Cytoplasm;Cytosol NA May act as a downstream effector of CDC42 in cytoskeletal reorganization. Contributes to the actomyosin contractility required for cell invasion, through the regulation of MYPT1 and thus MLC2 phosphorylation (By similarity). NA Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily. NA PE1 11 +NX_Q6DWJ6 Probable G-protein coupled receptor 139 353 40679 9.43 7 Cell membrane NA Orphan receptor. Seems to act through a G(q/11)-mediated pathway. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 16 +NX_Q6E0U4 Dermokine 476 47082 6.8 0 Nucleoplasm;Cytosol;Secreted NA May act as a soluble regulator of keratinocyte differentiation. O-glycosylated. Belongs to the dermokine family. NA PE1 19 +NX_Q6E213 Acyl-CoA wax alcohol acyltransferase 2 333 38094 9.42 3 Endoplasmic reticulum membrane NA Acyltransferase that catalyzes the formation of ester bonds between fatty alcohols and fatty acyl-CoAs to form wax monoesters (PubMed:15220349, PubMed:15671038, PubMed:16106050, PubMed:28420705). Shows a preference for medium chain acyl-CoAs from C12 to C16 in length and fatty alcohols shorter than C20, as the acyl donors and acceptors, respectively (PubMed:15220349, PubMed:15671038). Also possesses acyl-CoA retinol acyltransferase (ARAT) activity that catalyzes 11-cis-specific retinyl ester synthesis (PubMed:16106050, PubMed:24799687). Shows higher catalytic efficiency toward 11-cis-retinol versus 9-cis-retinol, 13-cis-retinol, and all-trans-retinol substrates (PubMed:24799687). NA Belongs to the diacylglycerol acyltransferase family. Retinol metabolism;Vitamin digestion and absorption;Acyl chain remodeling of DAG and TAG;The retinoid cycle in cones (daylight vision);Wax biosynthesis PE1 X +NX_Q6EBC2 Interleukin-31 164 18205 5.28 0 Secreted NA Activates STAT3 and possibly STAT1 and STAT5 through the IL31 heterodimeric receptor composed of IL31RA and OSMR (PubMed:15184896). May function in skin immunity (PubMed:15184896). Enhances myeloid progenitor cell survival in vitro (By similarity). Induces RETNLA and serum amyloid A protein expression in macrophages (By similarity). NA NA IL-6-type cytokine receptor ligand interactions PE1 12 +NX_Q6ECI4 Zinc finger protein 470 717 82650 8.91 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q6EEV4 DNA-directed RNA polymerase II subunit GRINL1A, isoforms 4/5 148 15131 8.68 0 NA NA NA NA NA NA PE1 15 +NX_Q6EEV6 Small ubiquitin-related modifier 4 95 10685 6.57 0 NA Diabetes mellitus, insulin-dependent, 5 Ubiquitin-like protein which can be covalently attached to target lysines as a monomer. Does not seem to be involved in protein degradation and may modulate protein subcellular localization, stability or activity. Upon oxidative stress, conjugates to various anti-oxidant enzymes, chaperones, and stress defense proteins. May also conjugate to NFKBIA, TFAP2A and FOS, negatively regulating their transcriptional activity, and to NR3C1, positively regulating its transcriptional activity. Covalent attachment to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I. In contrast to SUMO1, SUMO2 and SUMO3, seems to be insensitive to sentrin-specific proteases due to the presence of Pro-90. This may impair processing to mature form and conjugation to substrates. Belongs to the ubiquitin family. SUMO subfamily. RNA transport PE1 6 +NX_Q6EIG7 C-type lectin domain family 6 member A 209 23998 5.86 1 Membrane NA Binds high-mannose carbohydrates in a Ca(2+)-dependent manner (PubMed:28652405). Functional receptor for alpha-mannans on C.albicans hypheas. Plays an important role in the host defense against C.albicans infection by inducing TH17 cell differentiation. Recognizes also, in a mannose-dependent manner, allergens from house dust mite and fungi, by promoting cysteinyl leukotriene production. Recognizes soluble elements from the eggs of Shistosoma mansoni altering adaptive immune responses. Transduces signals through an Fc receptor gamma chain /FCER1G and Syk-CARD9-NF-kappa-B-dependent pathway (By similarity). NA NA Dectin-2 family PE1 12 +NX_Q6EKJ0 General transcription factor II-I repeat domain-containing protein 2B 949 107233 5.62 0 Nucleus NA NA NA Belongs to the TFII-I family. NA PE1 7 +NX_Q6EMB2 Tubulin polyglutamylase TTLL5 1281 143577 8.82 0 Cytoplasm;Cell membrane;Cilium;Cilium basal body;Nucleus envelope;Cytosol;Nucleus Cone-rod dystrophy 19 Polyglutamylase which preferentially modifies alpha-tubulin (By similarity). Involved in the side-chain initiation step of the polyglutamylation reaction rather than in the elongation step (By similarity). Required for CCSAP localization to both spindle and cilia microtubules (PubMed:22493317). Increases the effects of NCOA2 in glucocorticoid receptor-mediated repression and induction and in androgen receptor-mediated induction (PubMed:17116691). NA Belongs to the tubulin--tyrosine ligase family. Carboxyterminal post-translational modifications of tubulin PE1 14 +NX_Q6EMK4 Vasorin 673 71713 7.16 1 Mitochondrion;Secreted;Nucleolus;Membrane;Nucleoplasm NA May act as an inhibitor of TGF-beta signaling. N-glycosylated. N-glycan heterogeneity at Asn-117: Hex5HexNAc4 (minor), dHex1Hex5HexNAc4 (major), Hex6HexNAc5 (minor) and dHex1Hex6HexNAc5 (minor). NA NA PE1 16 +NX_Q6F5E7 Protein TXNRD3NB 133 14331 8.23 0 NA NA NA NA NA NA PE2 3 +NX_Q6F5E8 Capping protein, Arp2/3 and myosin-I linker protein 2 1435 154689 6.31 0 Cytoplasm;Cell membrane;Lamellipodium;Ruffle;Cytoskeleton Immunodeficiency 58 Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization (PubMed:26466680). Plays a role in cell protrusion formations; involved in cell polarity, lamellipodial assembly, membrane ruffling and macropinosome formations (PubMed:19846667, PubMed:26578515, PubMed:26466680). Involved as well in cell migration and invadopodia formation during wound healing (PubMed:19846667, PubMed:26578515, PubMed:26466680). Required for CD28-mediated stimulation of NF-kappa-B signaling, involved in naive T cells activation, maturation into T memory cells, and differentiation into T helper and T regulatory cells (PubMed:27647349, PubMed:27647348, PubMed:28112205). NA Belongs to the CARMIL family. NA PE1 16 +NX_Q6FHJ7 Secreted frizzled-related protein 4 346 39827 9.12 0 Secreted Pyle disease Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types (By similarity). SFRP4 plays a role in bone morphogenesis. May also act as a regulator of adult uterine morphology and function. May also increase apoptosis during ovulation possibly through modulation of FZ1/FZ4/WNT4 signaling (By similarity). Has phosphaturic effects by specifically inhibiting sodium-dependent phosphate uptake (PubMed:12952927). NA Belongs to the secreted frizzled-related protein (sFRP) family. Wnt signaling pathway PE1 7 +NX_Q6FI13 Histone H2A type 2-A 130 14095 10.9 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.;Deiminated on Arg-4 in granulocytes upon calcium entry.;Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.;Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of 'Lys-27' of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and 'Lys-63'-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend 'Lys-63'-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). H2AK119Ub and ionizing radiation-induced 'Lys-63'-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239). Belongs to the histone H2A family. Systemic lupus erythematosus;Systemic lupus erythematosus;Transcriptional regulation by small RNAs;RMTs methylate histone arginines;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;UCH proteinases;Ub-specific processing proteases;Metalloprotease DUBs;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 1 +NX_Q6FI81 Anamorsin 312 33582 5.44 0 Cytoplasm;Mitochondrion intermembrane space;Mitochondrion;Nucleus NA Component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery required for the maturation of extramitochondrial Fe-S proteins. Part of an electron transfer chain functioning in an early step of cytosolic Fe-S biogenesis, facilitating the de novo assembly of a [4Fe-4S] cluster on the scaffold complex NUBP1-NUBP2. Electrons are transferred to CIAPIN1 from NADPH via the FAD- and FMN-containing protein NDOR1 (PubMed:23596212). NDOR1-CIAPIN1 are also required for the assembly of the diferric tyrosyl radical cofactor of ribonucleotide reductase (RNR), probably by providing electrons for reduction during radical cofactor maturation in the catalytic small subunit (By similarity). Has anti-apoptotic effects in the cell. Involved in negative control of cell death upon cytokine withdrawal. Promotes development of hematopoietic cells (By similarity). NA Belongs to the anamorsin family. Cytosolic iron-sulfur cluster assembly PE1 16 +NX_Q6FIF0 AN1-type zinc finger protein 6 208 22555 6.87 0 Cytoplasm NA Involved in regulation of TNF-alpha induced NF-kappa-B activation and apoptosis. Involved in modulation of 'Lys-48'-linked polyubiquitination status of TRAF2 and decreases association of TRAF2 with RIPK1. Required for PTS1 target sequence-dependent protein import into peroxisomes and PEX5 stability; may cooperate with PEX6. In vitro involved in PEX5 export from the cytosol to peroxisomes (By similarity). NA NA Peroxisomal protein import PE1 15 +NX_Q6GMR7 Fatty-acid amide hydrolase 2 532 58304 9.2 1 Membrane NA Degrades bioactive fatty acid amides like oleamide, the endogenous cannabinoid, anandamide and myristic amide to their corresponding acids, thereby serving to terminate the signaling functions of these molecules. Hydrolyzes monounsaturated substrate anandamide preferentially as compared to polyunsaturated substrates. NA Belongs to the amidase family. Arachidonic acid metabolism PE1 X +NX_Q6GMV1 Putative glycosyltransferase ALG1-like 187 21132 4.96 0 NA NA Putative glycosyltransferase. NA Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 33 subfamily. NA PE2 3 +NX_Q6GMV2 SET and MYND domain-containing protein 5 418 47341 4.98 0 Mitochondrion NA NA NA Belongs to the class V-like SAM-binding methyltransferase superfamily. NA PE1 2 +NX_Q6GMV3 Putative peptidyl-tRNA hydrolase PTRHD1 140 15805 9.2 0 Nucleoplasm NA NA NA Belongs to the PTH2 family. PTRHD1 subfamily. NA PE1 2 +NX_Q6GPH4 XIAP-associated factor 1 301 34626 8.57 0 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA Seems to function as a negative regulator of members of the IAP (inhibitor of apoptosis protein) family. Inhibits anti-caspase activity of BIRC4. Induces cleavage and inactivation of BIRC4 independent of caspase activation. Mediates TNF-alpha-induced apoptosis and is involved in apoptosis in trophoblast cells. May inhibit BIRC4 indirectly by activating the mitochondrial apoptosis pathway. After translocation to mitochondria, promotes translocation of BAX to mitochondria and cytochrome c release from mitochondria. Seems to promote the redistribution of BIRC4 from the cytoplasm to the nucleus, probably independent of BIRC4 inactivation which seems to occur in the cytoplasm. The BIRC4-XAF1 complex mediates down-regulation of BIRC5/survivin; the process requires the E3 ligase activity of BIRC4. Seems to be involved in cellular sensitivity to the proapoptotic actions of TRAIL. May be a tumor suppressor by mediating apoptosis resistance of cancer cells. NA NA Interferon alpha/beta signaling PE1 17 +NX_Q6GPH6 Inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 555 63395 6 1 Membrane NA NA NA Belongs to the ITPRIP family. NA PE1 2 +NX_Q6GPI1 Chymotrypsinogen B2 263 27923 7.98 0 Extracellular space NA NA NA Belongs to the peptidase S1 family. Cobalamin (Cbl, vitamin B12) transport and metabolism;Activation of Matrix Metalloproteinases PE1 16 +NX_Q6GQQ9 OTU domain-containing protein 7B 843 92526 6.27 0 Nucleoplasm;Cytoplasm;Nucleus;Cytoskeleton NA Negative regulator of the non-canonical NF-kappa-B pathway that acts by mediating deubiquitination of TRAF3, an inhibitor of the NF-kappa-B pathway, thereby acting as a negative regulator of B-cell responses. In response to non-canonical NF-kappa-B stimuli, deubiquitinates 'Lys-48'-linked polyubiquitin chains of TRAF3, preventing TRAF3 proteolysis and over-activation of non-canonical NF-kappa-B. Negatively regulates mucosal immunity against infections (By similarity). Deubiquitinates ZAP70, and thereby regulates T cell receptor (TCR) signaling that leads to the activation of NF-kappa-B (PubMed:26903241). Plays a role in T cell homeostasis and is required for normal T cell responses, including production of IFNG and IL2 (By similarity). Mediates deubiquitination of EGFR (PubMed:22179831). Has deubiquitinating activity toward 'Lys-11', 'Lys-48' and 'Lys-63'-linked polyubiquitin chains (PubMed:27732584). Has a much higher catalytic rate with 'Lys-11'-linked polyubiquitin chains (in vitro); however the physiological significance of these data are unsure (PubMed:27732584). Hydrolyzes both linear and branched forms of polyubiquitin. Phosphorylated by EGFR. Belongs to the peptidase C64 family. TNFR1-induced proapoptotic signaling;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;Ovarian tumor domain proteases PE1 1 +NX_Q6GTS8 N-fatty-acyl-amino acid synthase/hydrolase PM20D1 502 55741 6.2 0 Secreted NA Bidirectional N-fatty-acyl amino acid synthase/hydrolase that regulates the production of N-fatty-acyl amino acids. These metabolites are endogenous chemical uncouplers of mitochondrial respiration. In an UCP1-independent manner, maybe through interaction with mitochondrial transporters, they promote proton leakage into the mitochondrial matrix. Thereby, this secreted protein may indirectly regulate the bodily dissipation of chemical energy as heat through thermogenic respiration. NA Belongs to the peptidase M20A family. NA PE1 1 +NX_Q6GTX8 Leukocyte-associated immunoglobulin-like receptor 1 287 31412 5.4 1 Cell membrane NA Functions as an inhibitory receptor that plays a constitutive negative regulatory role on cytolytic function of natural killer (NK) cells, B-cells and T-cells. Activation by Tyr phosphorylation results in recruitment and activation of the phosphatases PTPN6 and PTPN11. It also reduces the increase of intracellular calcium evoked by B-cell receptor ligation. May also play its inhibitory role independently of SH2-containing phosphatases. Modulates cytokine production in CD4+ T-cells, down-regulating IL2 and IFNG production while inducing secretion of transforming growth factor beta. Down-regulates also IgG and IgE production in B-cells as well as IL8, IL10 and TNF secretion. Inhibits proliferation and induces apoptosis in myeloid leukemia cell lines as well as prevents nuclear translocation of NF-kappa-B p65 subunit/RELA and phosphorylation of I-kappa-B alpha/CHUK in these cells. Inhibits the differentiation of peripheral blood precursors towards dendritic cells. N-glycosylated.;Phosphorylation at Tyr-251 and Tyr-281 activates it. May be phosphorylated by LCK. NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Neutrophil degranulation PE1 19 +NX_Q6GV28 Transmembrane protein 225 225 25828 8.4 4 Acrosome membrane NA Probably inhibits protein phosphatase 1 (PP1) in sperm via binding to catalytic subunit PPP1CC. NA NA NA PE2 11 +NX_Q6GYQ0 Ral GTPase-activating protein subunit alpha-1 2036 229832 5.79 0 Cytoplasm;Cytosol;Mitochondrion;Nucleus NA Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB. NA NA NA PE1 14 +NX_Q6H3X3 UL-16 binding protein 5 334 37106 6.88 1 Cell membrane;Endoplasmic reticulum;Secreted;Cytoplasmic vesicle NA Stimulates natural killer cells to secrete IFNG.;Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity.;Down-regulates the expression of KLRK1 and stimulates natural killer cells to secrete IFNG. The functional form is cleaved C-terminally of the GPI-anchor and yields a 28 kDa protein. Belongs to the MHC class I family. Natural killer cell mediated cytotoxicity;Post-translational modification: synthesis of GPI-anchored proteins PE1 6 +NX_Q6H8Q1 Actin-binding LIM protein 2 611 67812 8.29 0 Cytoplasm;Nucleoplasm;Mitochondrion NA May act as scaffold protein. May stimulate ABRA activity and ABRA-dependent SRF transcriptional activity. NA NA Axon guidance;DCC mediated attractive signaling PE1 4 +NX_Q6H9L7 Isthmin-2 571 63906 4.7 0 Nucleoplasm;Secreted NA NA NA Belongs to the isthmin family. NA PE1 14 +NX_Q6HA08 Astacin-like metalloendopeptidase 431 45936 7.67 0 Cytoplasm;Cytoplasmic granule;Secretory vesicle;Cell membrane NA Oocyte-specific oolemmal receptor involved in sperm and egg adhesion and fertilization. Plays a role in the polyspermy inhibition. Probably acts as a protease for the post-fertilization cleavage of ZP2. Cleaves the sperm-binding ZP2 at the surface of the zona pellucida after fertilization and cortical granule exocytosis, rendering the zona pellucida unable to support further sperm binding (By similarity). NA NA NA PE1 2 +NX_Q6I9Y2 THO complex subunit 7 homolog 204 23743 5.47 0 Cytoplasm;Cytosol;Nucleus speckle;Nucleus NA The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production.;Required for efficient export of polyadenylated RNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. NA Belongs to the THOC7 family. RNA transport;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 3 +NX_Q6IA17 Single Ig IL-1-related receptor 410 45679 6.02 1 Membrane;Cytosol;Nucleolus NA Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Attenuates the recruitment of receptor-proximal signaling components to the TLR4 receptor, probably through an TIR-TIR domain interaction with TLR4. Through its extracellular domain interferes with the heterodimerization of Il1R1 and IL1RAP. NA Belongs to the interleukin-1 receptor family. MyD88:MAL(TIRAP) cascade initiated on plasma membrane;Interleukin-37 signaling PE1 11 +NX_Q6IA69 Glutamine-dependent NAD(+) synthetase 706 79285 6.02 0 Golgi apparatus;Cytosol;Cytoplasmic vesicle NA Catalyzes the ATP-dependent amidation of deamido-NAD to form NAD (PubMed:12547821). Uses L-glutamine as a nitrogen source (PubMed:12547821). NA In the C-terminal section; belongs to the NAD synthetase family. Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from deamido-NAD(+) (L-Gln route): step 1/1.;Nicotinate and nicotinamide metabolism;Metabolic pathways;Nicotinate metabolism PE1 11 +NX_Q6IA86 Elongator complex protein 2 826 92500 5.6 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Mental retardation, autosomal recessive 58 Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation (PubMed:11714725, PubMed:11818576). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244). NA Belongs to the WD repeat ELP2 family. tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis.;HATs acetylate histones PE1 18 +NX_Q6IAA8 Ragulator complex protein LAMTOR1 161 17745 5.01 0 Golgi apparatus;Cell membrane;Lysosome membrane;Cytoplasmic vesicle;Late endosome membrane NA As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. LAMTOR1 is directly responsible for anchoring the Ragulator complex to membranes. Also required for late endosomes/lysosomes biogenesis it may regulate both the recycling of receptors through endosomes and the MAPK signaling pathway through recruitment of some of its components to late endosomes. May be involved in cholesterol homeostasis regulating LDL uptake and cholesterol release from late endosomes/lysosomes. May also play a role in RHOA activation. NA Belongs to the LAMTOR1 family. Macroautophagy;TP53 Regulates Metabolic Genes;Energy dependent regulation of mTOR by LKB1-AMPK;mTOR signalling;mTORC1-mediated signalling;Neutrophil degranulation;Regulation of PTEN gene transcription PE1 11 +NX_Q6IAN0 Dehydrogenase/reductase SDR family member 7B 325 35119 9.59 1 Cytosol;Cell junction;Endoplasmic reticulum membrane;Cell membrane NA Putative oxidoreductase. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Plasmalogen biosynthesis PE1 17 +NX_Q6IB77 Glycine N-acyltransferase 296 33924 8.38 0 Mitochondrion NA Mitochondrial acyltransferase which transfers an acyl group to the N-terminus of glycine and glutamine, although much less efficiently. Can conjugate numerous substrates to form a variety of N-acylglycines, with a preference for benzoyl-CoA over phenylacetyl-CoA as acyl donors. Thereby detoxify xenobiotics, such as benzoic acid or salicylic acid, and endogenous organic acids, such as isovaleric acid. NA Belongs to the glycine N-acyltransferase family. Conjugation of salicylate with glycine;Conjugation of benzoate with glycine PE1 11 +NX_Q6IBS0 Twinfilin-2 349 39548 6.37 0 Stereocilium;Perinuclear region;Cell membrane;Cytoskeleton NA Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G-actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles. May play a role in regulating the mature length of the middle and short rows of stereocilia (By similarity). In vitro, phosphorylated by PRKCZ, CK2 and SRC. Belongs to the actin-binding proteins ADF family. Twinfilin subfamily. NA PE1 3 +NX_Q6IBW4 Condensin-2 complex subunit H2 605 68227 4.66 0 Nucleoplasm;Nucleus;Chromosome;Cytoskeleton NA Regulatory subunit of the condensin-2 complex, a complex that seems to provide chromosomes with an additional level of organization and rigidity and in establishing mitotic chromosome architecture (PubMed:14532007). May promote the resolution of double-strand DNA catenanes (intertwines) between sister chromatids. Condensin-mediated compaction likely increases tension in catenated sister chromatids, providing directionality for type II topoisomerase-mediated strand exchanges toward chromatid decatenation. Required for decatenation of chromatin bridges at anaphase. Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (By similarity). Seems to have lineage-specific role in T-cell development (PubMed:14532007). NA Belongs to the CND2 H2 (condensin-2 subunit 2) family. Condensation of Prophase Chromosomes PE1 22 +NX_Q6IC83 Uncharacterized protein C22orf42 251 27691 5.02 0 NA NA NA NA NA NA PE2 22 +NX_Q6IC98 GRAM domain-containing protein 4 578 66408 8.98 3 Mitochondrion membrane;Endoplasmic reticulum membrane NA Plays a role as a mediator of E2F1-induced apoptosis in the absence of p53/TP53 (PubMed:15565177). Plays a role as a mediator of E2F1-induced apoptosis in the absence of p53/TP53. Inhibits TLR9 response to nucelic acids and regulates TLR9-mediated innate immune response (By similarity). NA NA NA PE1 22 +NX_Q6ICB0 Desumoylating isopeptidase 1 168 18263 4.86 0 Cytoplasm;Cytosol;Nucleus;Cytoskeleton NA Protease which deconjugates SUMO1, SUMO2 and SUMO3 from some substrate proteins. Has isopeptidase but not SUMO-processing activity (By similarity). Desumoylates ZBTB46 (By similarity). Collaborates with UBQLN4 in the export of ubiquitinated proteins from the nucleus to the cytoplasm (PubMed:29666234). NA Belongs to the DeSI family. NA PE1 22 +NX_Q6ICB4 Sesquipedalian-2 259 28338 6.66 0 trans-Golgi network;Clathrin-coated vesicle;Early endosome;Recycling endosome NA Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane. NA Belongs to the sesquipedalian family. NA PE1 22 +NX_Q6ICC9 Retrotransposon Gag-like protein 6 239 26154 11.18 0 Cytosol;Nucleus speckle NA NA NA Belongs to the LDOC1 family. NA PE1 22 +NX_Q6ICG6 Uncharacterized protein KIAA0930 404 45794 8.06 0 Mitochondrion;Nucleus membrane NA NA NA NA NA PE1 22 +NX_Q6ICG8 Postacrosomal sheath WW domain-binding protein 309 31909 7.66 0 NA NA May play a role in meotic resumption and pronuclear formation, mediated by a WW domain-signaling pathway during fertilization. NA NA NA PE1 22 +NX_Q6ICH7 Aspartate beta-hydroxylase domain-containing protein 2 369 41699 7.47 1 Membrane NA May function as 2-oxoglutarate-dependent dioxygenase. NA Belongs to the aspartyl/asparaginyl beta-hydroxylase family. NA PE1 22 +NX_Q6ICI0 Transmembrane protein 211 200 21740 8.82 4 Membrane NA NA NA Belongs to the TMEM211 family. NA PE2 22 +NX_Q6ICL3 Transport and Golgi organization protein 2 homolog 276 30937 5.04 0 Golgi apparatus Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration NA NA Belongs to the Tango2 family. NA PE1 22 +NX_Q6ICL7 Solute carrier family 35 member E4 350 36747 9.66 8 Membrane;Cytosol NA Putative transporter. NA Belongs to the TPT transporter family. SLC35E subfamily. NA PE1 22 +NX_Q6IE36 Ovostatin homolog 2 1432 161251 5.16 0 Secreted NA Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. NA Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family. NA PE2 12 +NX_Q6IE37 Ovostatin homolog 1 1185 134499 5.17 0 Secreted NA Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. NA Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family. NA PE2 12 +NX_Q6IE38 Serine protease inhibitor Kazal-type 14 97 11057 9.17 0 Secreted NA May be a serine protease inhibitor. NA NA NA PE2 5 +NX_Q6IE81 Protein Jade-1 842 95533 8.2 0 Cytoplasm;Nucleus;Mitochondrion;Cilium basal body NA Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Transcriptional coactivator, it may also promote acetylation of nucleosomal histone H4 by KAT5. Promotes apoptosis. May act as a renal tumor suppressor. Negatively regulates canonical Wnt signaling; at least in part, cooperates with NPHP4 in this function. NA Belongs to the JADE family. HATs acetylate histones PE1 4 +NX_Q6IED9 Putative diacylglycerol O-acyltransferase 2-like protein DGAT2L7P 249 27571 9.67 0 NA NA Probable acyltransferase uses fatty acyl-CoA as substrate. NA Belongs to the diacylglycerol acyltransferase family. Acyl chain remodeling of DAG and TAG PE5 7 +NX_Q6IEE7 Transmembrane protein 132E 1074 116150 5.66 1 Golgi apparatus;Membrane;Nucleoplasm;Cytosol;Nucleus Deafness, autosomal recessive, 99 Required for normal inner ear hair cell function and hearing. NA Belongs to the TMEM132 family. NA PE1 17 +NX_Q6IEE8 Schlafen family member 12-like 588 67096 8.34 1 Membrane NA NA NA Belongs to the Schlafen family. NA PE2 17 +NX_Q6IEG0 U11/U12 small nuclear ribonucleoprotein 48 kDa protein 339 39965 6.49 0 Nucleoplasm;Cytosol;Nucleus NA Likely involved in U12-type 5' splice site recognition. NA NA mRNA Splicing - Minor Pathway PE1 6 +NX_Q6IEU7 Olfactory receptor 5M10 315 35592 8.56 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q6IEV9 Olfactory receptor 4C11 310 35003 9.11 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q6IEY1 Olfactory receptor 4F3/4F16/4F29 312 35074 9.04 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory transduction;Olfactory Signaling Pathway PE2 5 +NX_Q6IEZ7 Olfactory receptor 2T5 315 35595 8.71 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q6IF00 Olfactory receptor 2T2 324 36228 9.03 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q6IF36 Putative olfactory receptor 8G2 304 33950 7.11 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 11 +NX_Q6IF42 Olfactory receptor 2A2 318 35820 8.74 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 7 +NX_Q6IF63 Olfactory receptor 52W1 320 34414 9.04 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q6IF82 Olfactory receptor 4A47 309 34760 8.77 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q6IF99 Olfactory receptor 10K2 312 35029 8.92 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q6IFG1 Olfactory receptor 52E8 317 35913 9.4 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q6IFH4 Olfactory receptor 6B2 312 35029 8.41 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 2 +NX_Q6IFN5 Olfactory receptor 7E24 339 38279 7.14 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 19 +NX_Q6IMI4 Sulfotransferase 6B1 303 34919 6.01 0 Cytoplasm NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of thyroxine. Involved in the metabolism of thyroxine (By similarity). NA Belongs to the sulfotransferase 1 family. Cytosolic sulfonation of small molecules PE2 2 +NX_Q6IMI6 Sulfotransferase 1C3 304 35889 6.43 0 Cytoplasm NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor and has low sulphotransferase activity towards various substrates with alcohol groups (in vitro). May catalyze the sulfate conjugation of xenobiotic compounds and endogenous substrates. NA Belongs to the sulfotransferase 1 family. NA PE1 2 +NX_Q6IMN6 Caprin-2 1127 125925 6.28 0 Cytoplasm;Mitochondrion;Cell membrane;Nucleoplasm;Centrosome;Cytosol NA Promotes phosphorylation of the Wnt coreceptor LRP6, leading to increased activity of the canonical Wnt signaling pathway (PubMed:18762581). Facilitates constitutive LRP6 phosphorylation by CDK14/CCNY during G2/M stage of the cell cycle, which may potentiate cells for Wnt signaling (PubMed:27821587). May regulate the transport and translation of mRNAs, modulating for instance the expression of proteins involved in synaptic plasticity in neurons (By similarity). Involved in regulation of growth as erythroblasts shift from a highly proliferative state towards their terminal phase of differentiation (PubMed:14593112). May be involved in apoptosis (PubMed:14593112). NA Belongs to the caprin family. NA PE1 12 +NX_Q6IN84 rRNA methyltransferase 1, mitochondrial 353 38638 8.15 0 Mitochondrion NA S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methylguanosine at position 1145 (Gm1145) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA. NA Belongs to the class IV-like SAM-binding methyltransferase superfamily. RNA methyltransferase TrmH family. rRNA modification in the mitochondrion PE1 17 +NX_Q6IN85 Serine/threonine-protein phosphatase 4 regulatory subunit 3A 833 95368 4.83 0 Cytoplasm;Nucleus speckle;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Regulatory subunit of serine/threonine-protein phosphatase 4. May regulate the activity of PPP4C at centrosomal microtubule organizing centers. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AFX phosphorylated on 'Ser-140' (gamma-H2AFX) generated during DNA replication and required for DNA DSB repair. NA Belongs to the SMEK family. NA PE1 14 +NX_Q6IN97 Putative protein FRMPD2-like 320 35161 5.87 0 NA NA NA NA NA NA PE5 10 +NX_Q6IPM2 IQ domain-containing protein E 695 77298 9.15 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cilium membrane;Cytosol Polydactyly, postaxial, A7 Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling (By similarity). Required for proper limb morphogenesis (PubMed:28488682). NA NA Activation of SMO PE1 7 +NX_Q6IPR1 Electron transfer flavoprotein regulatory factor 1 90 10864 9.92 0 Mitochondrion NA Acts as a regulator of the electron transfer flavoprotein by promoting the removal of flavin from the ETF holoenzyme (composed of ETFA and ETFB). NA Belongs to the complex I LYR family. NA PE1 12 +NX_Q6IPR3 tRNA wybutosine-synthesizing protein 3 homolog 259 29794 7.59 0 Cytosol;Cell membrane NA Probable S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA (By similarity). NA Belongs to the TYW3 family. tRNA modification; wybutosine-tRNA(Phe) biosynthesis.;Synthesis of wybutosine at G37 of tRNA(Phe) PE1 1 +NX_Q6IPT2 Protein FAM71E1 247 27609 8.86 0 Nucleolus NA NA NA Belongs to the FAM71 family. NA PE1 19 +NX_Q6IPT4 NADH-cytochrome b5 reductase-like 315 35892 5.05 0 Nucleoplasm NA NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction. NA Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family. Erythrocytes take up carbon dioxide and release oxygen PE2 1 +NX_Q6IPU0 Centromere protein P 288 33165 5.9 0 Nucleus;Nucleoplasm;Centromere;Nucleolus NA Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. NA Belongs to the CENP-P/CTF19 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Deposition of new CENPA-containing nucleosomes at the centromere;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 9 +NX_Q6IPW1 Uncharacterized protein C11orf71 123 13249 11.73 0 Nucleoplasm NA NA NA NA NA PE2 11 +NX_Q6IPX1 TBC1 domain family member 3C 549 62187 9.24 0 Cell membrane NA Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation.;Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination. NA NA PE2 17 +NX_Q6IPX3 Transcription elongation factor A protein-like 6 200 22298 5.15 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the TFS-II family. TFA subfamily. NA PE1 X +NX_Q6IQ16 Speckle-type POZ protein-like 392 44647 6.99 0 Cytoplasmic vesicle;Nucleus NA Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins, but with relatively low efficiency. Cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes containing homodimeric SPOPL or the heterodimer formed by SPOP and SPOPL are less efficient than ubiquitin ligase complexes containing only SPOP. May function to down-regulate the activity of cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes that contain SPOP. NA Belongs to the Tdpoz family. Protein modification; protein ubiquitination.;Hedgehog 'on' state PE1 2 +NX_Q6IQ19 Centriole, cilia and spindle-associated protein 270 30216 7.7 0 Centriole;Cilium;Cilium basal body;Spindle;Centrosome;Cilium axoneme;Axon;Cytoskeleton NA Plays a role in microtubule (MT) stabilization and this stabilization involves the maintenance of NUMA1 at the spindle poles. Colocalizes with polyglutamylated MTs to promote MT stabilization and regulate bipolar spindle formation in mitosis. Binding of CCSAP to centrosomes and the spindle around centrosomes during mitosis inhibits MT depolymerization, thereby stabilizing the mitotic spindle (PubMed:26562023). May play a role in embryonic development. May be required for proper cilia beating (By similarity). NA Belongs to the CCSAP family. NA PE1 1 +NX_Q6IQ20 N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D 393 45596 5.71 0 Nucleoplasm;Nucleus envelope;Golgi apparatus membrane;Early endosome membrane;Cytosol NA Hydrolyzes N-acyl-phosphatidylethanolamines (NAPEs) to produce N-acylethanolamines (NAEs) and phosphatidic acid (PubMed:25684574, PubMed:14634025, PubMed:16527816). Responsible for the generation of these bioactive fatty acid ethanolamides (FAEs), including anandamide (N-arachidonoylethanolamine), the ligand of cannabinoid and vanilloid receptors (PubMed:14634025). As a regulator of lipid metabolism in the adipose tissue, mediates the crosstalk between adipocytes, gut microbiota and immune cells to control body temperature and weight. In particular, regulates energy homeostasis by promoting cold-induced brown or beige adipocyte differentiation program to generate heat from fatty acids and glucose (By similarity). NA Belongs to the NAPE-PLD family. Biosynthesis of A2E, implicated in retinal degradation PE1 7 +NX_Q6IQ21 Zinc finger protein 770 691 80007 9.64 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 15 +NX_Q6IQ22 Ras-related protein Rab-12 244 27248 8.68 0 Lysosome membrane;Autophagosome;Recycling endosome membrane;Golgi apparatus membrane;Cytoplasmic vesicle NA The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab may play a role in protein transport from recycling endosomes to lysosomes regulating, for instance, the degradation of the transferrin receptor. Involved in autophagy (By similarity). Phosphorylation of Ser-106 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitors GDI1 and GDI2. Belongs to the small GTPase superfamily. Rab family. RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 18 +NX_Q6IQ23 Pleckstrin homology domain-containing family A member 7 1121 127135 9.39 0 Cytoplasm;Cell junction;Adherens junction;Nucleoplasm;Centrosome;Cytosol NA Required for zonula adherens biogenesis and maintenance (PubMed:19041755). Acts via its interaction with CAMSAP3, which anchors microtubules at their minus-ends to zonula adherens, leading to the recruitment of KIFC3 kinesin to the junctional site (PubMed:19041755). Mediates docking of ADAM10 to zonula adherens through a PDZD11-dependent interaction with the ADAM10-binding protein TSPAN33 (PubMed:30463011). NA NA NA PE1 11 +NX_Q6IQ26 DENN domain-containing protein 5A 1287 147096 6.21 0 Cytoplasmic vesicle;Golgi apparatus;Golgi apparatus membrane Epileptic encephalopathy, early infantile, 49 Guanine nucleotide exchange factor (GEF) which may activate RAB6A and RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Involved in the negative regulation of neurite outgrowth (By similarity). NA Belongs to the RAB6IP1 family. RAB GEFs exchange GTP for GDP on RABs PE1 11 +NX_Q6IQ32 Activity-dependent neuroprotector homeobox protein 2 1131 122833 9.3 0 Cytosol;Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 18 +NX_Q6IQ49 Replication stress response regulator SDE2 451 49742 5.77 0 Golgi apparatus;Nucleus speckle;Cell membrane;Cytosol;Nucleus NA Involved in both DNA replication and cell cycle control (PubMed:27906959). Unprocessed SDE2 interacts with PCNA via its PIP-box. The interaction with PCNA prevents monoubiquitination of the latter thereby inhibiting translesion DNA synthesis. The binding of SDE2 to PCNA also leads to processing of SDE2 by an unidentified deubiquitinating enzyme, cleaving off the N-terminal ubiquitin-like domain. The resulting mature SDE2 is degraded by the DCX(DTL) complex in a cell cycle- and DNA damage dependent manner (PubMed:27906959). Binding of SDE2 to PCNA is necessary to counteract damage due to ultraviolet light induced replication stress. The complete degradation of SDE2 is necessary to allow S-phase progression (PubMed:27906959). Both SDE2-UBL and the mature SDE2 are polyubiquitinated.;The protein is cleaved at Gly-77 by a deubiquitinating enzyme to form the active SDE2. Belongs to the SDE2 family. NA PE1 1 +NX_Q6IQ55 Tau-tubulin kinase 2 1244 137412 6.54 0 Centriole;Cilium;Cilium basal body;Cytosol;Nucleus Spinocerebellar ataxia 11 Serine/threonine kinase that acts as a key regulator of ciliogenesis: controls the initiation of ciliogenesis by binding to the distal end of the basal body and promoting the removal of CCP110, which caps the mother centriole, leading to the recruitment of IFT proteins, which build the ciliary axoneme. Has some substrate preference for proteins that are already phosphorylated on a Tyr residue at the +2 position relative to the phosphorylation site. Able to phosphorylate tau on serines in vitro. NA Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. Anchoring of the basal body to the plasma membrane PE1 15 +NX_Q6IS14 Eukaryotic translation initiation factor 5A-1-like 154 16773 4.85 0 Cytoplasm;Endoplasmic reticulum membrane;Nucleus;Nuclear pore complex NA MRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. Functions as a regulator of apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation (By similarity). EIF-5A seems to be the only eukaryotic protein to have a hypusine residue which is a post-translational modification of a lysine by the addition of a butylamino group (from spermidine). Belongs to the eIF-5A family. NA PE1 10 +NX_Q6IS24 Polypeptide N-acetylgalactosaminyltransferase 17 598 67751 9.07 1 Golgi apparatus;Nucleolus;Nucleoplasm;Golgi apparatus membrane;Nucleus NA May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 7 +NX_Q6ISB3 Grainyhead-like protein 2 homolog 625 71105 6.06 0 Membrane;Nucleoplasm;Nucleus Deafness, autosomal dominant, 28;Corneal dystrophy, posterior polymorphous, 4;Ectodermal dysplasia/short stature syndrome Transcription factor playing an important role in primary neurulation and in epithelial development (PubMed:29309642, PubMed:25152456). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (By similarity). During embryogenesis, plays unique and cooperative roles with GRHL3 in establishing distinct zones of primary neurulation. Essential for closure 3 (rostral end of the forebrain), functions cooperatively with GRHL3 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity). Regulates epithelial morphogenesis acting as a target gene-associated transcriptional activator of apical junctional complex components. Up-regulates of CLDN3 and CLDN4, as well as of RAB25, which increases the CLDN4 protein and its localization at tight junctions (By similarity). Comprises an essential component of the transcriptional machinery that establishes appropriate expression levels of CLDN4 and CDH1 in different types of epithelia. Exhibits functional redundancy with GRHL3 in epidermal morphogenetic events and epidermal wound repair (By similarity). In lung, forms a regulatory loop with NKX2-1 that coordinates lung epithelial cell morphogenesis and differentiation (By similarity). In keratinocytes, plays a role in telomerase activation during cellular proliferation, regulates TERT expression by binding to TERT promoter region and inhibiting DNA methylation at the 5'-CpG island, possibly by interfering with DNMT1 enzyme activity (PubMed:19015635, PubMed:20938050). In addition, impairs keratinocyte differentiation and epidermal function by inhibiting the expression of genes clustered at the epidermal differentiation complex (EDC) as well as GRHL1 and GRHL3 through epigenetic mechanisms (PubMed:23254293). NA Belongs to the grh/CP2 family. Grainyhead subfamily. NA PE1 8 +NX_Q6ISS4 Leukocyte-associated immunoglobulin-like receptor 2 152 16280 5.13 0 Secreted NA NA NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_Q6ISU1 Pre T-cell antigen receptor alpha 281 29266 6.58 1 Membrane NA The pre-T-cell receptor complex (composed of PTCRA, TCRB and the CD3 complex) regulates early T-cell development. NA NA Notch signaling pathway;NOTCH3 Intracellular Domain Regulates Transcription PE1 6 +NX_Q6IV72 Zinc finger protein 425 752 87721 9.43 0 Nucleoplasm;Cytoplasm;Nucleus NA Acts as a transcriptional repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_Q6IWH7 Anoctamin-7 933 105532 8.11 8 Endoplasmic reticulum;Cytosol;Cell junction;Cell membrane NA Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (PubMed:22075693). May play a role in cell-cell interactions (PubMed:17308099). NA Belongs to the anoctamin family. Stimuli-sensing channels PE1 2 +NX_Q6J272 Protein FAM166A 317 36165 7.68 0 NA NA NA NA Belongs to the UPF0605 family. NA PE1 9 +NX_Q6J4K2 Mitochondrial sodium/calcium exchanger protein 584 64231 8.32 13 Mitochondrion inner membrane NA Mitochondrial sodium/calcium antiporter that mediates sodium-dependent calcium efflux from mitochondrion, by mediating the exchange of 3 sodium ions per 1 calcium ion (PubMed:20018762, PubMed:22829870, PubMed:23056385, PubMed:24898248, PubMed:28219928). Plays a central role in mitochondrial calcium homeostasis by mediating mitochondrial calcium extrusion: calcium efflux is essential for mitochondrial function and cell survival, notably in cardiomyocytes (By similarity). Regulates rates of glucose-dependent insulin secretion in pancreatic beta-cells during the first phase of insulin secretion: acts by mediating efflux of calcium from mitochondrion, thereby affecting cytoplasmic calcium responses (PubMed:23056385). Required for store-operated Ca(2+) entry (SOCE) and Ca(2+) release-activated Ca(2+) (CRAC) channel regulation: sodium transport by SLC8B1 leads to promote calcium-shuttling that modulates mitochondrial redox status, thereby regulating SOCE activity (PubMed:28219928). Involved in B-lymphocyte chemotaxis (By similarity). Able to transport Ca(2+) in exchange of either Li(+) or Na(+), explaining how Li(+) catalyzes Ca(2+) exchange (PubMed:15060069). In contrast to other members of the family its function is independent of K(+) (PubMed:15060069). Phosphorylation at Ser-258 by PKA prevents calcium overload. Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily. Sodium/Calcium exchangers;Mitochondrial calcium ion transport PE1 12 +NX_Q6J9G0 Tyrosine-protein kinase STYK1 422 47577 7.1 1 Membrane;Golgi apparatus;Nucleoplasm;Cell membrane NA Probable tyrosine protein-kinase, which has strong transforming capabilities on a variety of cell lines. When overexpressed, it can also induce tumor cell invasion as well as metastasis in distant organs. May act by activating both MAP kinase and phosphatidylinositol 3'-kinases (PI3K) pathways (By similarity). NA Belongs to the protein kinase superfamily. Tyr protein kinase family. NA PE1 12 +NX_Q6JBY9 CapZ-interacting protein 416 44504 5.34 0 Cell membrane NA Stress-induced phosphorylation of CAPZIP may regulate the ability of F-actin-capping protein to remodel actin filament assembly. Dephosphorylation results in its dissociation from CAPZA2.;RCSD1 is phosphorylated by MAPKAPK3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA NA PE1 1 +NX_Q6JEL2 Kelch-like protein 10 608 68942 5.47 0 Cytoplasm Spermatogenic failure 11 May be a substrate-specific adapter of a CUL3-based E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins during spermatogenesis. NA NA Protein modification; protein ubiquitination. PE1 17 +NX_Q6JQN1 Acyl-CoA dehydrogenase family member 10 1059 118834 8.33 0 NA NA Acyl-CoA dehydrogenase only active with R- and S-2-methyl-C15-CoA. NA Belongs to the acyl-CoA dehydrogenase family. Mitochondrial Fatty Acid Beta-Oxidation PE1 12 +NX_Q6JVE5 Epididymal-specific lipocalin-12 192 21500 5.48 0 Secreted NA Binds all-trans retinoic acid and may act as a retinoid carrier protein within the epididymis. May play a role in male fertility (By similarity). NA Belongs to the calycin superfamily. Lipocalin family. Transport of fatty acids PE2 9 +NX_Q6JVE6 Epididymal-specific lipocalin-10 187 20759 10.36 0 Secreted NA May play a role in male fertility. May act as a retinoid carrier protein within the epididymis. NA Belongs to the calycin superfamily. Lipocalin family. NA PE1 9 +NX_Q6JVE9 Epididymal-specific lipocalin-8 175 19080 6.83 0 Secreted NA May play a role in male fertility. May act as a retinoid carrier protein within the epididymis. NA Belongs to the calycin superfamily. Lipocalin family. NA PE2 9 +NX_Q6K0P9 Pyrin and HIN domain-containing protein 1 492 55065 9.82 0 Nucleoplasm;Nucleus speckle;Nucleus NA Major mediator of the tumor suppressor activity of IFN in breast cancer cells. Promotes ubiquitination and subsequent degradation of MDM2, which leads to p53/TP53 stabilization. Promotes ubiquitination and subsequent degradation of HDAC1, which in turn enhances maspin expression, and impairs invasive activity of cancer cells. NA Belongs to the HIN-200 family. NA PE1 1 +NX_Q6KB66 Keratin, type II cytoskeletal 80 452 50525 5.58 0 Cytoskeleton NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_Q6KC79 Nipped-B-like protein 2804 316051 8.09 0 Chromosome;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus Cornelia de Lange syndrome 1 Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin (PubMed:22628566, PubMed:28914604). Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner (PubMed:28167679). Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity). NA Belongs to the SCC2/Nipped-B family. Cohesin Loading onto Chromatin PE1 5 +NX_Q6KCM7 Calcium-binding mitochondrial carrier protein SCaMC-2 469 52663 8.54 6 Cytoplasmic vesicle;Mitochondrion inner membrane;Mitochondrion NA Calcium-dependent mitochondrial solute carrier. Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. May act as a ATP-Mg/Pi exchanger that mediates the transport of Mg-ATP in exchange for phosphate, catalyzing the net uptake or efflux of adenine nucleotides into or from the mitochondria. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 9 +NX_Q6KF10 Growth/differentiation factor 6 455 50662 9.1 0 Nucleoplasm;Secreted;Nucleus membrane;Cytoplasmic vesicle Leber congenital amaurosis 17;Multiple synostoses syndrome 4;Microphthalmia, isolated, 4;Klippel-Feil syndrome 1, autosomal dominant Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and controls the formation of the retinotectal map (PubMed:23307924). Required for normal formation of bones and joints in the limbs, skull, digits and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Regulation of GDF6 expression seems to be a mechanism for evolving species-specific changes in skeletal structures. Seems to positively regulate differentiation of chondrogenic tissue through the growth factor receptors subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A, leading to the activation of SMAD1-SMAD5-SMAD8 complex. The regulation of chondrogenic differentiation is inhibited by NOG (PubMed:26643732). Also involved in the induction of adipogenesis from mesenchymal stem cells. This mechanism acts through the growth factor receptors subunits BMPR1A, BMPR2 and ACVR2A and the activation of SMAD1-SMAD5-SMAD8 complex and MAPK14/p38 (By similarity). NA Belongs to the TGF-beta family. TGF-beta signaling pathway PE1 8 +NX_Q6L8G4 Keratin-associated protein 5-11 156 14610 8.16 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 5 family. Keratinization PE1 11 +NX_Q6L8G5 Keratin-associated protein 5-10 202 17984 8.19 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 5 family. Keratinization PE2 11 +NX_Q6L8G8 Keratin-associated protein 5-7 165 15150 8.05 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 5 family. Keratinization PE2 11 +NX_Q6L8G9 Keratin-associated protein 5-6 129 11784 8.18 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 5 family. Keratinization PE1 11 +NX_Q6L8H1 Keratin-associated protein 5-4 288 25249 8.38 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 5 family. Keratinization PE1 11 +NX_Q6L8H2 Keratin-associated protein 5-3 238 22106 8.32 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 5 family. Keratinization PE1 11 +NX_Q6L8H4 Keratin-associated protein 5-1 278 24194 8.39 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 5 family. Keratinization PE2 11 +NX_Q6L8Q7 2',5'-phosphodiesterase 12 609 67352 6.11 0 Mitochondrion matrix NA Enzyme that cleaves 2',5'-phosphodiester bond linking adenosines of the 5'-triphosphorylated oligoadenylates, triphosphorylated oligoadenylates referred as 2-5A modulates the 2-5A system. Degrades triphosphorylated 2-5A to produce AMP and ATP (PubMed:26055709). Also cleaves 3',5'-phosphodiester bond of oligoadenylates (PubMed:21666256, PubMed:30389976, PubMed:26055709). Plays a role as a negative regulator of the 2-5A system that is one of the major pathways for antiviral and antitumor functions induced by interferons (IFNs). Suppression of this enzyme increases cellular 2-5A levels and decreases viral replication in cultured small-airway epithelial cells and Hela cells (PubMed:26055709). NA Belongs to the CCR4/nocturin family. OAS antiviral response PE1 3 +NX_Q6L9T8 Protein FAM72D 149 16688 6.27 0 NA NA NA NA Belongs to the FAM72 family. NA PE2 1 +NX_Q6L9W6 Beta-1,4-N-acetylgalactosaminyltransferase 3 998 114975 7.07 1 Golgi stack membrane;Golgi apparatus;Cytoplasmic vesicle NA Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N'-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans. Mediates the N,N'-diacetyllactosediamine formation on gastric mucosa. NA Belongs to the chondroitin N-acetylgalactosaminyltransferase family. NA PE1 12 +NX_Q6MZM0 Hephaestin-like protein 1 1159 131603 6.27 1 Membrane NA May function as a ferroxidase and may be involved in copper transport and homeostasis. NA Belongs to the multicopper oxidase family. NA PE1 11 +NX_Q6MZM9 Proline-rich protein 27 219 22720 4.82 0 Endoplasmic reticulum;Secreted NA NA NA NA NA PE1 4 +NX_Q6MZN7 HLA class I histocompatibility antigen protein P5 132 14098 7.83 0 NA NA NA NA NA NA PE2 6 +NX_Q6MZP7 Protein lin-54 homolog 749 79494 9.22 0 Cytosol;Nucleus NA Component of the DREAM complex, a multiprotein complex that can both act as a transcription activator or repressor depending on the context (PubMed:17671431, PubMed:17531812). In G0 phase, the complex binds to more than 800 promoters and is required for repression of E2F target genes (PubMed:17671431, PubMed:17531812). In S phase, the complex selectively binds to the promoters of G2/M genes whose products are required for mitosis and participates in their cell cycle dependent activation (PubMed:17671431, PubMed:17531812). In the complex, acts as a DNA-binding protein that binds the promoter of CDK1 in a sequence-specific manner (PubMed:19725879). Specifically recognizes the consensus motif 5'-TTYRAA-3' in target DNA (PubMed:27465258). NA Belongs to the lin-54 family. G0 and Early G1;G1/S-Specific Transcription;Polo-like kinase mediated events;Cyclin E associated events during G1/S transition;Cyclin A:Cdk2-associated events at S phase entry;Transcription of E2F targets under negative control by DREAM complex;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1 PE1 4 +NX_Q6MZQ0 Proline-rich protein 5-like 368 40836 6.28 0 Cytosol;Cytoskeleton NA Associates with the mTORC2 complex that regulates cellular processes including survival and organization of the cytoskeleton (PubMed:17461779). Regulates the activity of the mTORC2 complex in a substrate-specific manner preventing for instance the specific phosphorylation of PKCs and thereby controlling cell migration (PubMed:22609986). Plays a role in the stimulation of ZFP36-mediated mRNA decay of several ZFP36-associated mRNAs, such as TNF-alpha and GM-CSF, in response to stress (PubMed:21964062). Required for ZFP36 localization to cytoplasmic stress granule (SG) and P-body (PB) in response to stress (PubMed:21964062). Ubiquitinated. Ubiquitination by RFFL promotes proteasomal degradation of PRR5L thereby modifying the substrate-specific activity of the mTORC2 complex. Ubiquitination by RFFL is stimulated by LPA/lysophosphatidic acid. Belongs to the PROTOR family. NA PE1 11 +NX_Q6MZT1 Regulator of G-protein signaling 7-binding protein 257 28962 8.79 0 Cytoplasm;Cell membrane;Cytosol;Nucleus;Cytoskeleton NA Regulator of G protein-coupled receptor (GPCR) signaling. Regulatory subunit of the R7-Gbeta5 complexes that acts by controlling the subcellular location of the R7-Gbeta5 complexes. When palmitoylated, it targets the R7-Gbeta5 complexes to the plasma membrane, leading to inhibit G protein alpha subunits. When it is unpalmitoylated, the R7-Gbeta5 complexes undergo a nuclear/cytoplasmic shuttling. May also act by controlling the proteolytic stability of R7 proteins, probably by protecting them from degradation. Palmitoylation regulates the cell membrane and nuclear shuttling and the regulation of GPCR signaling. Upon depalmitoylation, it is targeted into the nucleus. Belongs to the RGS7BP/RGS9BP family. NA PE1 5 +NX_Q6MZW2 Follistatin-related protein 4 842 93096 5.88 0 Mitochondrion;Secreted;Nucleus membrane NA NA NA NA NA PE1 5 +NX_Q6MZZ7 Calpain-13 669 76696 7.01 0 Nucleoplasm NA Probable non-lysosomal thiol-protease. NA Belongs to the peptidase C2 family. Degradation of the extracellular matrix PE1 2 +NX_Q6N021 Methylcytosine dioxygenase TET2 2002 223811 8.22 0 Nucleoplasm Myelodysplastic syndrome;Polycythemia vera Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Has a preference for 5-hydroxymethylcytosine in CpG motifs. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome which plays an important role in transcriptional regulation. In addition to its role in DNA demethylation, also involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT. May be glycosylated. It is unclear whether interaction with OGT leads to GlcNAcylation. According to a report, it is not GlcNAcylated by OGT (PubMed:23353889). In contrast, another group reports GlcNAcylation by OGT in mouse ortholog. Belongs to the TET family. TET1,2,3 and TDG demethylate DNA PE1 4 +NX_Q6N022 Teneurin-4 2769 307957 6.1 1 Cytoplasm;Cell projection;Nucleus;Cell membrane Tremor, hereditary essential 5 Involved in neural development, regulating the establishment of proper connectivity within the nervous system. Plays a role in the establishment of the anterior-posterior axis during gastrulation. Regulates the differentiation and cellular process formation of oligodendrocytes and myelination of small-diameter axons in the central nervous system (CNS) (PubMed:26188006). Promotes activation of focal adhesion kinase. May function as a cellular signal transducer (By similarity). NA Belongs to the tenascin family. Teneurin subfamily. NA PE1 11 +NX_Q6N043 Zinc finger protein 280D 979 109285 8.51 0 Cytoplasm;Golgi apparatus;Nucleoplasm;Centrosome;Cytosol;Nucleus NA May function as a transcription factor. NA NA NA PE1 15 +NX_Q6N063 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 350 38996 5.45 0 Nucleoplasm;Nucleus NA NA NA Belongs to the OGFOD2 family. NA PE1 12 +NX_Q6N069 N-alpha-acetyltransferase 16, NatA auxiliary subunit 864 101462 8.06 0 Cytosol NA Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity. NA NA NA PE1 13 +NX_Q6N075 Molybdate-anion transporter 450 49765 7.96 12 Golgi apparatus;Cell membrane NA Mediates high-affinity intracellular uptake of the rare oligo-element molybdenum. NA Belongs to the major facilitator superfamily. NA PE1 12 +NX_Q6NS38 DNA oxidative demethylase ALKBH2 261 29322 9.68 0 Nucleoplasm;Nucleus NA Dioxygenase that repairs alkylated DNA and RNA containing 1-methyladenine and 3-methylcytosine by oxidative demethylation. Can also repair alkylated DNA containing 1-ethenoadenine (in vitro). Has strong preference for double-stranded DNA. Has low efficiency with single-stranded substrates. Requires molecular oxygen, alpha-ketoglutarate and iron. NA Belongs to the alkB family. ALKBH2 mediated reversal of alkylation damage PE1 12 +NX_Q6NSI1 Putative ankyrin repeat domain-containing protein 26-like protein 321 35437 5.23 0 NA NA NA NA NA NA PE5 16 +NX_Q6NSI3 Protein FAM53A 398 42585 9.21 0 Nucleoplasm;Nucleus NA May play an important role in neural development; the dorsomedial roof of the third ventricle. NA Belongs to the FAM53 family. NA PE1 4 +NX_Q6NSI4 RPA-related protein RADX 855 97554 8.65 0 Cytoskeleton;Chromosome NA Single-stranded DNA-binding protein recruited to replication forks to maintain genome stability (PubMed:28735897). Prevents fork collapse by antagonizing the accumulation of RAD51 at forks to ensure the proper balance of fork remodeling and protection without interfering with the capacity of cells to complete homologous recombination of double-strand breaks (PubMed:28735897). NA NA NA PE1 X +NX_Q6NSI8 Uncharacterized protein KIAA1841 718 82007 6.5 0 Nucleoplasm;Nucleolus NA NA NA Belongs to the KIAA1841 family. NA PE1 2 +NX_Q6NSJ0 Myogenesis-regulating glycosidase 714 81087 8.6 1 Endoplasmic reticulum membrane;Nucleus membrane;Mitochondrion Basal ganglia calcification, idiopathic, 7, autosomal recessive Putative glycosidase. Promotes myogenesis by activating AKT signaling through the maturation and secretion of IGF2. NA Belongs to the glycosyl hydrolase 31 family. NA PE1 9 +NX_Q6NSJ2 Pleckstrin homology-like domain family B member 3 640 71912 6.16 0 Cytosol;Nucleus speckle;Cell membrane NA NA NA NA NA PE1 19 +NX_Q6NSJ5 Volume-regulated anion channel subunit LRRC8E 796 90247 6.52 4 Endoplasmic reticulum;Endoplasmic reticulum membrane;Cell membrane NA Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24790029, PubMed:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24790029, PubMed:26824658). Mediates efflux of amino acids, such as aspartate, in response to osmotic stress (PubMed:28193731). Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658, PubMed:28193731). NA Belongs to the LRRC8 family. Miscellaneous transport and binding events PE1 19 +NX_Q6NSW5 Putative DENN domain-containing protein 10 B 357 40514 6.09 0 Late endosome NA May be a guanine nucleotide exchange factor (GEF). NA Belongs to the DENND10 family. NA PE5 X +NX_Q6NSW7 Homeobox protein NANOGP8 305 34673 5.85 0 Nucleus NA May act as a transcription regulator (By similarity). When overexpressed, promotes entry of cells into S phase and cell proliferation. NA Belongs to the Nanog homeobox family. NA PE2 15 +NX_Q6NSX1 Coiled-coil domain-containing protein 70 233 28767 5.7 0 Secreted;Cell membrane NA NA NA NA NA PE1 13 +NX_Q6NSZ9 Zinc finger and SCAN domain-containing protein 25 544 61474 7.82 0 Nucleoplasm;Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_Q6NT04 Tigger transposable element-derived protein 7 549 63236 8.91 0 Cytosol;Nucleus;Cell membrane NA NA NA Belongs to the tigger transposable element derived protein family. NA PE1 16 +NX_Q6NT16 MFS-type transporter SLC18B1 456 48869 5.15 12 Membrane;Golgi apparatus;Cytosol NA NA NA Belongs to the major facilitator superfamily. NA PE1 6 +NX_Q6NT32 Carboxylesterase 5A 575 63926 5.98 0 Secreted NA Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. N-glycosylated. Belongs to the type-B carboxylesterase/lipase family. Drug metabolism - other enzymes;Metabolic pathways PE1 16 +NX_Q6NT46 G antigen 2A 116 12785 4.37 0 NA NA NA NA Belongs to the GAGE family. NA PE1 X +NX_Q6NT52 Choriogonadotropin subunit beta variant 2 163 17374 8.91 0 Secreted NA NA NA Belongs to the glycoprotein hormones subunit beta family. NA PE2 19 +NX_Q6NT55 Cytochrome P450 4F22 531 61958 8.95 0 Microsome membrane;Endoplasmic reticulum membrane Ichthyosis, congenital, autosomal recessive 5 NA NA Belongs to the cytochrome P450 family. Miscellaneous substrates;Fatty acids;Eicosanoids;Synthesis of Leukotrienes (LT) and Eoxins (EX);Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) PE1 19 +NX_Q6NT76 Homeobox-containing protein 1 420 47278 5.72 0 Cajal body;Cytoplasm;Nucleoplasm;Telomere;PML body;Cytosol;Nucleus NA Binds directly to 5'-TTAGGG-3' repeats in telomeric DNA (PubMed:23813958, PubMed:23685356). Associates with the telomerase complex at sites of active telomere processing and positively regulates telomere elongation (PubMed:23685356). Important for TERT binding to chromatin, indicating a role in recruitment of the telomerase complex to telomeres (By similarity). Also plays a role in the alternative lengthening of telomeres (ALT) pathway in telomerase-negative cells where it promotes formation and/or maintenance of ALT-associated promyelocytic leukemia bodies (APBs) (PubMed:23813958). Enhances formation of telomere C-circles in ALT cells, suggesting a possible role in telomere recombination (PubMed:23813958). Might also be involved in the DNA damage response at telomeres (PubMed:23813958). NA NA NA PE1 8 +NX_Q6NT89 TMF-regulated nuclear protein 1 227 23482 11.43 0 Nucleus NA DNA-binding factor that regulates the expression of a subset of genes and plays a key role in tangential, radial, and lateral expansion of the brain neocortex. Regulates neural stem cells proliferation and the production of intermediate neural progenitors and basal radial glial cells affecting the process of cerebral cortex gyrification. May control the proliferation rate of cells by regulating their progression through key cell-cycle transition points (By similarity). Ubiquitinated, leading to its degradation by the proteasome. NA NA PE1 1 +NX_Q6NTE8 MRN complex-interacting protein 343 37743 8.98 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA Plays a role in the cellular response to DNA damage and the maintenance of genome stability through its association with the MRN damage-sensing complex (PubMed:27568553). Promotes chromatin loading and activity of the MRN complex to facilitate subsequent ATM-mediated DNA damage response signaling and DNA repair (PubMed:27568553). Phosphorylated; phosphorylation is constitutive and occurs in the absence of any DNA-damaging stimulus. Phosphorylation on Ser-115 is necessary for its nuclear retention. Belongs to the MRNIP family. NA PE1 5 +NX_Q6NTF7 DNA dC->dU-editing enzyme APOBEC-3H 200 23532 8.84 0 Nucleoplasm;P-body;Nucleus;Cytoplasm NA DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. The A3H-var/haplotype 2 exhibits antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single- or double-stranded RNA. Exhibits antiviral activity also against T-cell leukemia virus type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons. NA Belongs to the cytidine and deoxycytidylate deaminase family. mRNA Editing: C to U Conversion;Formation of the Editosome PE1 22 +NX_Q6NTF9 Rhomboid domain-containing protein 2 364 39202 9.48 5 Golgi apparatus;cis-Golgi network membrane NA NA NA Belongs to the peptidase S54 family. NA PE1 7 +NX_Q6NUI1 Putative coiled-coil domain-containing protein 144 N-terminal-like 221 23810 6.67 0 Nucleoplasm;Cell membrane NA NA NA Belongs to the CCDC144 family. NA PE5 17 +NX_Q6NUI2 Glycerol-3-phosphate acyltransferase 2, mitochondrial 795 87835 7.74 2 Mitochondrion outer membrane;Mitochondrion NA Esterifies acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis. Required for primary processing step during piRNA biosynthesis. Molecular mechanisms by which it promotes piRNA biosynthesis are unclear and do not involve its acyltransferase activity. NA Belongs to the GPAT/DAPAT family. Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 1/3.;Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PA;Triglyceride biosynthesis PE1 2 +NX_Q6NUI6 Chondroadherin-like protein 762 82388 9.2 0 Extracellular matrix;Secreted NA Potential negative modulator of chondrocyte differentiation. Inhibits collagen fibrillogenesis in vitro. May influence chondrocyte's differentiation by acting on its cellular collagenous microenvironment. NA Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class IV subfamily. NA PE1 22 +NX_Q6NUJ1 Proactivator polypeptide-like 1 521 56627 7.12 0 Cytosol;Secreted NA May activate the lysosomal degradation of sphingolipids. NA NA Lysosome PE1 4 +NX_Q6NUJ2 Uncharacterized protein C11orf87 197 20623 9.85 1 Membrane NA NA NA NA NA PE1 11 +NX_Q6NUJ5 PWWP domain-containing protein 2B 590 63967 8.52 0 Nucleoplasm NA NA NA NA NA PE1 10 +NX_Q6NUK1 Calcium-binding mitochondrial carrier protein SCaMC-1 477 53354 6 6 Mitochondrion inner membrane;Mitochondrion Fontaine progeroid syndrome Calcium-dependent mitochondrial solute carrier. Mediates the reversible, electroneutral exchange of Mg-ATP or Mg-ADP against phosphate ions, catalyzing the net uptake or efflux of adenine nucleotides across the mitochondrial inner membrane. Nucleotide transport is inactive when cytosolic calcium levels are low, and is activated by an increase in cytosolic calcium levels. May play a role in protecting cells against oxidative stress-induced cell death, probably by promoting the formation of calcium-phosphate precipitates in the mitochondrial matrix, and thereby buffering calcium levels in the mitochondrial matrix. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 1 +NX_Q6NUK4 Receptor expression-enhancing protein 3 255 29264 9.57 3 Endoplasmic reticulum membrane NA Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes. NA Belongs to the DP1 family. Olfactory Signaling Pathway PE1 10 +NX_Q6NUM6 S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1B 668 76946 5.86 0 NA NA Probable component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the condensation of N-methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis (By similarity). NA Belongs to the TYW1 family. tRNA modification; wybutosine-tRNA(Phe) biosynthesis. PE2 7 +NX_Q6NUM9 All-trans-retinol 13,14-reductase 610 66820 8.54 0 Endoplasmic reticulum membrane;Nucleolus NA Catalyzes the saturation of all-trans-retinol to all-trans-13,14-dihydroretinol. Does not exhibit any activity toward all-trans-retinoic acid, nor 9-cis, 11-cis or 13-cis-retinol isomers. May play a role in the metabolism of vitamin A. Independently of retinol conversion, may regulate liver metabolism upstream of MLXIPL/ChREBP. May play a role in adipocyte differentiation. NA Belongs to the carotenoid/retinoid oxidoreductase family. CrtISO subfamily. Retinol metabolism;Retinoid metabolism and transport PE1 2 +NX_Q6NUN0 Acyl-coenzyme A synthetase ACSM5, mitochondrial 579 64760 8.69 0 Cytoplasmic vesicle;Mitochondrion matrix NA Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism. NA Belongs to the ATP-dependent AMP-binding enzyme family. Butanoate metabolism;Metabolic pathways;Conjugation of salicylate with glycine PE1 16 +NX_Q6NUN7 Jhy protein homolog 778 88569 9.28 0 Golgi apparatus;Nucleoplasm NA Required for the normal development of cilia in brain ependymal cells lining the ventricular surfaces. NA NA NA PE1 11 +NX_Q6NUN9 Zinc finger protein 746 644 69136 6.41 0 Cytoplasm;Nucleus NA Transcription repressor that specifically binds to the 5'-TATTTT[T/G]-3' consensus sequence on promoters and repress transcription of PGC-1-alpha (PPARGC1A), thereby playing a role in regulation of neuron death. Ubiquitinated by PRKN. 'Lys-48'-linked polyubiquitination by PRKN leads to degradation by the proteasome and may play a key role in regulation of neuron death. Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_Q6NUP7 Serine/threonine-protein phosphatase 4 regulatory subunit 4 873 99452 7.96 0 Cytoplasm;Cytosol NA Putative regulatory subunit of serine/threonine-protein phosphatase 4. NA NA NA PE1 14 +NX_Q6NUQ1 RAD50-interacting protein 1 792 90632 5.29 0 Golgi apparatus;Cytoplasm;Endoplasmic reticulum membrane NA Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER. May play a role in cell cycle checkpoint control (PubMed:11096100). Essential for telomere length control (PubMed:16600870). NA Belongs to the RINT1 family. COPI-dependent Golgi-to-ER retrograde traffic PE1 7 +NX_Q6NUQ4 Transmembrane protein 214 689 77151 9.28 2 Endoplasmic reticulum;Golgi apparatus;Cytosol;Endoplasmic reticulum membrane NA Critical mediator, in cooperation with CASP4, of endoplasmic reticulum-stress induced apoptosis. Required or the activation of CASP4 following endoplasmic reticulum stress. NA Belongs to the TMEM214 family. NA PE1 2 +NX_Q6NUR6 Putative protein RNF216-like 42 5133 5.4 0 NA NA NA NA NA NA PE5 7 +NX_Q6NUS6 Tectonic-3 607 66157 8.6 1 Membrane;Endoplasmic reticulum;Cytoskeleton Orofaciodigital syndrome 4;Joubert syndrome 18 Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). May be involved in apoptosis regulation. Necessary for signal transduction through the sonic hedgehog (Shh) signaling pathway. NA Belongs to the tectonic family. Anchoring of the basal body to the plasma membrane PE1 10 +NX_Q6NUS8 UDP-glucuronosyltransferase 3A1 523 59151 8.2 1 Membrane;Cytoplasmic vesicle;Cytosol NA UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity). NA Belongs to the UDP-glycosyltransferase family. Glucuronidation PE1 5 +NX_Q6NUT2 Probable C-mannosyltransferase DPY19L2 758 87374 9.24 11 Membrane;Nucleoplasm;Mitochondrion Spermatogenic failure 9 Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins (By similarity). Required during spermatogenesis for sperm head elongation and acrosome formation. NA Belongs to the dpy-19 family. NA PE1 12 +NX_Q6NUT3 Major facilitator superfamily domain-containing protein 12 480 52075 8.67 12 Membrane;Nucleoplasm;Mitochondrion NA NA NA Belongs to the major facilitator superfamily. NA PE1 19 +NX_Q6NV74 Uncharacterized protein KIAA1211-like 962 102157 8.14 0 Centrosome;Cytoskeleton NA NA NA NA NA PE1 2 +NX_Q6NV75 Probable G-protein coupled receptor 153 609 65361 7.9 7 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 1 +NX_Q6NVH7 ATPase SWSAP1 229 24311 5.09 0 Nucleus NA ATPase which is preferentially stimulated by single-stranded DNA and is involved in homologous recombination repair (HRR). Has a DNA-binding activity which is independent of its ATPase activity. NA NA NA PE1 19 +NX_Q6NVU6 Inactive Ufm1-specific protease 1 142 15060 5.9 0 NA NA NA NA Belongs to the peptidase C78 family. NA PE1 7 +NX_Q6NVV0 Putative makorin-5 33 3805 3.31 0 NA NA NA NA NA NA PE5 12 +NX_Q6NVV1 Putative 60S ribosomal protein L13a protein RPL13AP3 102 12135 10.76 0 NA NA NA NA Belongs to the universal ribosomal protein uL13 family. NA PE5 14 +NX_Q6NVV3 Magnesium transporter NIPA3 410 44638 5.68 9 Membrane;Golgi apparatus NA Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+), Cu(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). NA Belongs to the NIPA family. Miscellaneous transport and binding events PE1 4 +NX_Q6NVV7 Cysteine-rich DPF motif domain-containing protein 1 123 13877 8.34 0 Nucleoplasm;Cytosol NA NA NA Belongs to the CDPF1 family. NA PE1 22 +NX_Q6NVV9 Putative disintegrin and metalloproteinase domain-containing protein 5 412 47181 6.34 0 NA NA This is a non catalytic metalloprotease-like protein. NA NA NA PE5 8 +NX_Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial 386 43482 8.38 0 Nucleoplasm;Mitochondrion 3-hydroxyisobutryl-CoA hydrolase deficiency Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA. NA Belongs to the enoyl-CoA hydratase/isomerase family. Amino-acid degradation; L-valine degradation.;Valine, leucine and isoleucine degradation;beta-Alanine metabolism;Propanoate metabolism;Metabolic pathways;Branched-chain amino acid catabolism PE1 2 +NX_Q6NW29 RWD domain-containing protein 4 188 21251 5.24 0 Cytoskeleton NA NA NA NA NA PE1 4 +NX_Q6NW34 Nucleolus and neural progenitor protein 567 64552 9.79 0 Nucleoplasm;Nucleolus;Nucleus NA May play a role in cortex development as part of the Notch signaling pathway. Downstream of Notch may repress the expression of proneural genes and inhibit neuronal differentiation thereby maintaining neural progenitors. May also play a role in preimplentation embryo development. NA Belongs to the nepro family. NA PE1 3 +NX_Q6NW40 RGM domain family member B 437 47547 5.92 0 Nucleoplasm;Membrane raft;Cell membrane NA Member of the repulsive guidance molecule (RGM) family that contributes to the patterning of the developing nervous system (By similarity). Acts as a bone morphogenetic protein (BMP) coreceptor that potentiates BMP signaling (By similarity). Promotes neuronal adhesion (By similarity). May inhibit neurite outgrowth. GPI-anchored.;Autocatalytically cleaved at low pH; the two chains remain linked via two disulfide bonds. Belongs to the repulsive guidance molecule (RGM) family. Netrin-1 signaling PE1 5 +NX_Q6NWY9 Pre-mRNA-processing factor 40 homolog B 871 99358 6.39 0 Nucleoplasm;Cytosol;Nucleus speckle;Nucleus NA May be involved in pre-mRNA splicing. NA Belongs to the PRPF40 family. NA PE1 12 +NX_Q6NX45 Zinc finger protein 774 483 55068 8.72 0 Cytosol;Nucleus;Cytoskeleton NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 15 +NX_Q6NX49 Zinc finger protein 544 715 81742 8.15 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q6NXE6 Armadillo repeat-containing protein 6 501 54142 5.83 0 Cytosol NA NA NA Belongs to the ARMC6 family. NA PE1 19 +NX_Q6NXG1 Epithelial splicing regulatory protein 1 681 75585 6.24 0 Nucleoplasm;Nucleus Deafness, autosomal recessive, 109 MRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2 (PubMed:19285943). Regulates splicing and expression of genes involved in inner ear development, auditory hair cell differentiation, and cell fate specification in the cochlear epithelium (By similarity). NA Belongs to the ESRP family. FGFR2 alternative splicing;Signaling by BRAF and RAF fusions PE1 8 +NX_Q6NXN4 Putative C-mannosyltransferase DPY19L2P1 242 28036 9.85 3 Membrane NA Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins. NA Belongs to the dpy-19 family. NA PE2 7 +NX_Q6NXP0 EF-hand calcium-binding domain-containing protein 12 572 66551 9.51 0 Nucleoplasm;Nucleus;Midbody ring NA NA NA NA NA PE1 3 +NX_Q6NXP2 Protein FAM71F2 309 34516 6.15 0 Nucleoplasm NA NA NA Belongs to the FAM71 family. NA PE1 7 +NX_Q6NXP6 NADP-dependent oxidoreductase domain-containing protein 1 359 39880 6.2 0 NA NA Probable oxidoreductase. NA Belongs to the pyrroline-5-carboxylate reductase family. NA PE1 14 +NX_Q6NXR0 Interferon-inducible GTPase 5 463 50288 5.22 0 NA NA NA NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. IRG family. NA PE1 19 +NX_Q6NXR4 TELO2-interacting protein 2 508 56915 6.63 0 Centrosome Mental retardation, autosomal recessive 39 Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. NA Belongs to the TTI2 family. NA PE1 8 +NX_Q6NXS1 Protein phosphatase inhibitor 2 family member B 205 23106 4.77 0 NA NA Inhibitor of protein-phosphatase 1. NA Belongs to the protein phosphatase inhibitor 2 family. NA PE1 5 +NX_Q6NXT1 Ankyrin repeat domain-containing protein 54 300 32505 5.84 0 Cytoplasm;Nucleoplasm;Midbody;Nucleus;Cytoskeleton NA Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation. NA NA NA PE1 22 +NX_Q6NXT2 Histone H3.3C 135 15214 11.11 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Hominid-specific H3.5/H3F3C preferentially colocalizes with euchromatin, and it is associated with actively transcribed genes. Citrullination at Arg-9 (H3R8ci) and/or Arg-18 (H3R17ci) by PADI4 impairs methylation and represses transcription.;Acetylation is generally linked to gene activation. Acetylation on Lys-10 (H3K9ac) impairs methylation at Arg-9 (H3R8me2s). Acetylation on Lys-19 (H3K18ac) and Lys-24 (H3K24ac) favors methylation at Arg-18 (H3R17me). Acetylation at Lys-122 (H3K122ac) by EP300/p300 plays a central role in chromatin structure: localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability (By similarity).;Lysine deamination at Lys-5 (H3K4all) to form allysine is mediated by LOXL2. Allysine formation by LOXL2 only takes place on H3K4me3 and results in gene repression (By similarity).;Serine ADP-ribosylation constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage. Serine ADP-ribosylation at Ser-11 (H3S10ADPr) is mutually exclusive with phosphorylation at Ser-11 (H3S10ph) and impairs acetylation at Lys-10 (H3K9ac).;Asymmetric dimethylation at Arg-18 (H3R17me2a) by CARM1 is linked to gene activation. Symmetric dimethylation at Arg-9 (H3R8me2s) by PRMT5 is linked to gene repression. Asymmetric dimethylation at Arg-3 (H3R2me2a) by PRMT6 is linked to gene repression and is mutually exclusive with H3 Lys-5 methylation (H3K4me2 and H3K4me3). H3R2me2a is present at the 3' of genes regardless of their transcription state and is enriched on inactive promoters, while it is absent on active promoters (By similarity).;Phosphorylated at Thr-4 (H3T3ph) by HASPIN during prophase and dephosphorylated during anaphase. Phosphorylation at Ser-11 (H3S10ph) by AURKB is crucial for chromosome condensation and cell-cycle progression during mitosis and meiosis. In addition phosphorylation at Ser-11 (H3S10ph) by RPS6KA4 and RPS6KA5 is important during interphase because it enables the transcription of genes following external stimulation, like mitogens, stress, growth factors or UV irradiation and result in the activation of genes, such as c-fos and c-jun. Phosphorylation at Ser-11 (H3S10ph), which is linked to gene activation, prevents methylation at Lys-10 (H3K9me) but facilitates acetylation of H3 and H4. Phosphorylation at Ser-11 (H3S10ph) by AURKB mediates the dissociation of HP1 proteins (CBX1, CBX3 and CBX5) from heterochromatin. Phosphorylation at Ser-11 (H3S10ph) is also an essential regulatory mechanism for neoplastic cell transformation. Phosphorylated at Ser-29 (H3S28ph) by MAP3K20 isoform 1, RPS6KA5 or AURKB during mitosis or upon ultraviolet B irradiation. Phosphorylation at Thr-7 (H3T6ph) by PRKCB is a specific tag for epigenetic transcriptional activation that prevents demethylation of Lys-5 (H3K4me) by LSD1/KDM1A. At centromeres, specifically phosphorylated at Thr-12 (H3T11ph) from prophase to early anaphase, by DAPK3 and PKN1. Phosphorylation at Thr-12 (H3T11ph) by PKN1 is a specific tag for epigenetic transcriptional activation that promotes demethylation of Lys-10 (H3K9me) by KDM4C/JMJD2C. Phosphorylation at Tyr-41 (H3Y41ph) by JAK2 promotes exclusion of CBX5 (HP1 alpha) from chromatin (By similarity).;Methylation at Lys-5 (H3K4me) is linked to gene activation. Methylation at Lys-5 (H3K4me) facilitates subsequent acetylation of H3 and H4. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are linked to gene repression. Methylation at Lys-10 (H3K9me) is a specific target for HP1 proteins (CBX1, CBX3 and CBX5) and prevents subsequent phosphorylation at Ser-11 (H3S10ph) and acetylation of H3 and H4. Methylation at Lys-5 (H3K4me) requires preliminary monoubiquitination of H2B at 'Lys-120'. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are enriched in inactive X chromosome chromatin. Monomethylation at Lys-56 (H3K56me1) by EHMT2/G9A in G1 phase promotes interaction with PCNA and is required for DNA replication (By similarity).;Butyrylation of histones marks active promoters and competes with histone acetylation. It is present during late spermatogenesis. Belongs to the histone H3 family. Systemic lupus erythematosus PE1 12 +NX_Q6NXT4 Zinc transporter 6 461 51116 9.28 6 Golgi apparatus;trans-Golgi network membrane NA Zinc-efflux transporter which allocates the cytoplasmic zinc to the trans-Golgi network (TGN) as well as the vesicular compartment. NA Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. Insulin processing;Zinc efflux and compartmentalization by the SLC30 family PE1 2 +NX_Q6NXT6 Transmembrane anterior posterior transformation protein 1 homolog 567 64260 8.56 5 Membrane;Cytoplasmic vesicle;Centrosome;Cilium basal body Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (Microbial infection) In case of infection, may act as a fusion receptor for cytomegalovirus (HCMV) strain AD169.;Plays a role in primary cilia formation (PubMed:26365339). May act as a downstream effector of HOXC8 possibly by transducing or transmitting extracellular information required for axial skeletal patterning during development (By similarity). May be involved in cartilage and bone development (By similarity). May play a role in the differentiation of cranial neural crest cells (By similarity). NA Belongs to the TAPT1 family. NA PE1 4 +NX_Q6NY19 KN motif and ankyrin repeat domain-containing protein 3 840 88425 5.17 0 Cell membrane NA May be involved in the control of cytoskeleton formation by regulating actin polymerization. NA NA NA PE1 19 +NX_Q6NYC1 Bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 403 46462 8.84 0 Cytoplasm;Nucleoplasm;Nucleolus NA Dioxygenase that can both act as a arginine demethylase and a lysyl-hydroxylase (PubMed:24498420, PubMed:17947579, PubMed:20684070, PubMed:21060799, PubMed:22189873). Acts as a lysyl-hydroxylase that catalyzes 5-hydroxylation on specific lysine residues of target proteins such as U2AF2/U2AF65 and LUC7L2. Regulates RNA splicing by mediating 5-hydroxylation of U2AF2/U2AF65, affecting the pre-mRNA splicing activity of U2AF2/U2AF65 (PubMed:19574390). Hydroxylates its own N-terminus, which is required for homooligomerization (PubMed:22189873). In addition to peptidyl-lysine 5-dioxygenase activity, may act as an RNA hydroxylase, as suggested by its ability to bind single strand RNA (PubMed:20679243, PubMed:29176719). Also acts as an arginine demethylase which preferentially demethylates asymmetric dimethylation (PubMed:17947579, PubMed:24498420, PubMed:24360279). Demethylates histone H3 at 'Arg-2' (H3R2me) and histone H4 at 'Arg-3' (H4R3me), including mono-, symmetric di- and asymmetric dimethylated forms, thereby playing a role in histone code (PubMed:17947579, PubMed:24360279). However, histone arginine demethylation may not constitute the primary activity in vivo (PubMed:17947579, PubMed:21060799, PubMed:22189873). In collaboration with BRD4, interacts with the positive transcription elongation factor b (P-TEFb) complex in its active form to regulate polymerase II promoter-proximal pause release for transcriptional activation of a large cohort of genes. On distal enhancers, so called anti-pause enhancers, demethylates both histone H4R3me2 and the methyl cap of 7SKsnRNA leading to the dismissal of the 7SKsnRNA:HEXIM1 inhibitor complex. After removal of repressive marks, the complex BRD4:JMJD6 attract and retain the P-TEFb complex on chromatin, leading to its activation, promoter-proximal polymerase II pause release, and transcriptional activation (PubMed:24360279). Demethylates other arginine methylated-proteins such as ESR1 (PubMed:24498420). Has no histone lysine demethylase activity (PubMed:21060799). Required for differentiation of multiple organs during embryogenesis. Acts as a key regulator of hematopoietic differentiation: required for angiogenic sprouting by regulating the pre-mRNA splicing activity of U2AF2/U2AF65 (By similarity). Seems to be necessary for the regulation of macrophage cytokine responses (PubMed:15622002). Hydroxylates its own N-terminus; hydroxylation is required for homooligomerization. Belongs to the JMJD6 family. HDMs demethylate histones PE1 17 +NX_Q6NYC8 Phostensin 613 67943 5.38 0 Nucleoplasm;Cell membrane;Cytoskeleton NA May target protein phosphatase 1 to F-actin cytoskeleton.;May target protein phosphatase 1 to F-actin cytoskeleton. NA NA NA PE1 6 +NX_Q6NZ36 Fanconi anemia core complex-associated protein 20 180 19869 6.9 0 Nucleoplasm;Cell junction;Nucleus;Chromosome NA Component of the Fanconi anemia (FA) complex required to recruit the FA complex to DNA interstrand cross-links (ICLs) and promote ICLs repair. Following DNA damage recognizes and binds 'Lys-63'-linked ubiquitin generated by RNF8 at ICLs and recruits other components of the FA complex. Promotes translesion synthesis via interaction with REV1. NA NA Fanconi Anemia Pathway PE1 1 +NX_Q6NZ63 STEAP family member 1B 245 28815 8.82 4 Membrane NA NA NA Belongs to the STEAP family. NA PE2 7 +NX_Q6NZ67 Mitotic-spindle organizing protein 2B 158 16226 10.16 0 Cytoplasm;Spindle;Centrosome NA NA NA Belongs to the MOZART2 family. Recruitment of mitotic centrosome proteins and complexes;Recruitment of NuMA to mitotic centrosomes PE1 2 +NX_Q6NZI2 Caveolae-associated protein 1 390 43476 5.51 0 Mitochondrion;Microsome;Cell membrane;Endoplasmic reticulum;Caveola;Cytoplasmic vesicle;Cytosol;Nucleus Congenital generalized lipodystrophy 4 Plays an important role in caveolae formation and organization. Essential for the formation of caveolae in all tissues (PubMed:18056712, PubMed:18191225, PubMed:19726876). Core component of the CAVIN complex which is essential for recruitment of the complex to the caveolae in presence of calveolin-1 (CAV1). Essential for normal oligomerization of CAV1. Promotes ribosomal transcriptional activity in response to metabolic challenges in the adipocytes and plays an important role in the formation of the ribosomal transcriptional loop. Dissociates transcription complexes paused by DNA-bound TTF1, thereby releasing both RNA polymerase I and pre-RNA from the template (By similarity) (PubMed:18056712, PubMed:18191225, PubMed:19726876). The caveolae biogenesis pathway is required for the secretion of proteins such as GASK1A (By similarity). Monoubiquitinated.;Five truncated forms are found in the caveolae. These are thought to be the result of proteolysis and may be phosphorylation-dependent.;Phosphorylated. Present in active and inactive forms. Changes in phosphorylation pattern may alter activity. Phosphorylation at Tyr-156 is essential for its functionin the regulation of ribosomal transcriptional activity. Belongs to the CAVIN family. RNA Polymerase I Transcription Termination PE1 17 +NX_Q6NZY4 Zinc finger CCHC domain-containing protein 8 707 78577 4.8 0 Nucleoplasm;Nucleus NA Scaffolding subunit of the trimeric nuclear exosome targeting (NEXT) complex, a complex that directs a subset of non-coding short-lived RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters (PubMed:27871484). May be involved in pre-mRNA splicing (Probable). Phosphorylation at Thr-492 by GSK3 is triggered in cells entering mitosis; this phosphorylation is greatly enhanced by nocodazole treatment, but reduced by lithium. Belongs to the ZCCHC8 family. NA PE1 12 +NX_Q6NZY7 Cdc42 effector protein 5 148 15207 6.9 0 Endomembrane system;Cytoskeleton NA Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts. Inhibits MAPK8 independently of CDC42 binding. Controls septin organization and this effect is negatively regulated by CDC42 (By similarity). NA Belongs to the BORG/CEP family. MAPK6/MAPK4 signaling PE1 19 +NX_Q6P047 Uncharacterized protein C8orf74 294 33735 7.74 0 Nucleoplasm NA NA NA NA NA PE1 8 +NX_Q6P050 F-box and leucine-rich protein 22 247 27269 9.99 0 Cytosol;Z line;Nucleolus NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Promotes ubiquitination of sarcomeric proteins alpha-actinin-2 (ACTN2) and filamin-C (FLNC). NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 15 +NX_Q6P087 Mitochondrial mRNA pseudouridine synthase RPUSD3 351 38461 10.33 0 Nucleoplasm;Mitochondrion matrix NA Catalyzes uridine to pseudouridine isomerization (pseudouridylation) of specific mitochondrial mRNAs (mt-mRNAs), a post-transcriptional modification necessary for their translation. Acts at position 390 in COXI mt-mRNA and at position 697-699 in mitochondrial COXIII mt-mRNA (PubMed:27974379). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and may play a role in mitochondrial ribosome biogenesis (PubMed:27667664). NA Belongs to the pseudouridine synthase RluA family. NA PE1 3 +NX_Q6P093 Arylacetamide deacetylase-like 2 401 46099 7.2 0 Secreted NA NA NA Belongs to the 'GDXG' lipolytic enzyme family. NA PE2 3 +NX_Q6P0A1 Protein FAM180B 183 20302 4.74 0 Secreted NA NA NA Belongs to the FAM180 family. NA PE1 11 +NX_Q6P0N0 Mis18-binding protein 1 1132 129085 9.31 0 Nucleolus;Chromosome;Centromere;Cytosol;Nucleus NA Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis. NA NA Deposition of new CENPA-containing nucleosomes at the centromere PE1 14 +NX_Q6P0Q8 Microtubule-associated serine/threonine-protein kinase 2 1798 196436 8.41 0 Cytosol;Cytoskeleton;Cell membrane NA Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins. Functions in a multi-protein complex in spermatid maturation. Regulates lipopolysaccharide-induced IL-12 synthesis in macrophages by forming a complex with TRAF6, resulting in the inhibition of TRAF6 NF-kappa-B activation (By similarity). Phosphorylated and ubiquitinated. N-terminal ubiquitination leads to degradation of MAST2 by proteasome-mediated proteolysis. N-terminal phosphorylation appears to be a prerequisite for ubiquitination (By similarity). Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. NA PE1 1 +NX_Q6P158 Putative ATP-dependent RNA helicase DHX57 1386 155604 7.83 0 Cytosol;Nucleolus;Cytoskeleton NA Probable ATP-binding RNA helicase. NA Belongs to the DEAD box helicase family. DEAH subfamily. NA PE1 2 +NX_Q6P161 39S ribosomal protein L54, mitochondrial 138 15819 9.6 0 Mitochondrion NA NA NA NA Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 19 +NX_Q6P179 Endoplasmic reticulum aminopeptidase 2 960 110462 6.25 1 Golgi apparatus;Endoplasmic reticulum membrane NA Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Preferentially hydrolyzes the basic residues Arg and Lys. N-glycosylated. Belongs to the peptidase M1 family. Antigen Presentation: Folding, assembly and peptide loading of class I MHC PE1 5 +NX_Q6P1A2 Lysophospholipid acyltransferase 5 487 56035 8.88 9 Endoplasmic reticulum membrane NA Acyltransferase which mediates the conversion of lysophosphatidylcholine (1-acyl-sn-glycero-3-phosphocholine or LPC) into phosphatidylcholine (1,2-diacyl-sn-glycero-3-phosphocholine or PC) (LPCAT activity). Catalyzes also the conversion of lysophosphatidylserine (1-acyl-2-hydroxy-sn-glycero-3-phospho-L-serine or LPS) into phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L-serine or PS) (LPSAT activity). Has also weak lysophosphatidylethanolamine acyltransferase activity (LPEAT activity). Favors polyunsaturated fatty acyl-CoAs as acyl donors compared to saturated fatty acyl-CoAs. Seems to be the major enzyme contributing to LPCAT activity in the liver. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. NA Belongs to the membrane-bound acyltransferase family. Lipid metabolism; phospholipid metabolism.;Glycerophospholipid metabolism;Acyl chain remodelling of PC;Acyl chain remodelling of PS;Acyl chain remodelling of PE PE1 12 +NX_Q6P1J6 Phospholipase B1, membrane-associated 1458 163081 5.57 1 Apical cell membrane NA Membrane-associated phospholipase. Exhibits a calcium-independent broad substrate specificity including phospholipase A2/lysophospholipase activity. Preferential hydrolysis at the sn-2 position of diacylphospholipids and diacyglycerol, whereas it shows no positional specificity toward triacylglycerol. Exhibits also esterase activity toward p-nitrophenyl. May act on the brush border membrane to facilitate the absorption of digested lipids (By similarity). Undergoes proteolytic cleavage in the ileum. Belongs to the 'GDSL' lipolytic enzyme family. Phospholipase B1 subfamily. Glycerophospholipid metabolism;Ether lipid metabolism;Arachidonic acid metabolism;Linoleic acid metabolism;alpha-Linolenic acid metabolism;Metabolic pathways;Vitamin digestion and absorption;Retinoid metabolism and transport;Acyl chain remodelling of PC PE1 2 +NX_Q6P1J9 Parafibromin 531 60577 9.63 0 Nucleoplasm;Cytosol;Nucleus Hyperparathyroidism 2 with jaw tumors;Hyperparathyroidism 1;Parathyroid carcinoma Tumor suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Connects PAF1C with the cleavage and polyadenylation specificity factor (CPSF) complex and the cleavage stimulation factor (CSTF) complex, and with Wnt signaling. Involved in polyadenylation of mRNA precursors. Phosphorylated. Dephosphorylated by PTPN11. Belongs to the CDC73 family. Hedgehog 'on' state;Formation of RNA Pol II elongation complex;RNA Polymerase II Pre-transcription Events;RNA Polymerase II Transcription Elongation;Formation of the beta-catenin:TCF transactivating complex;E3 ubiquitin ligases ubiquitinate target proteins PE1 1 +NX_Q6P1K1 Heme transporter HRG1 146 16419 9.66 4 Cytoplasmic vesicle;Lysosome membrane;Endosome membrane NA Heme transporter that regulates intracellular heme availability through the endosomal or lysosomal compartment. NA Belongs to the HRG family. NA PE1 12 +NX_Q6P1K2 Polyamine-modulated factor 1 205 23339 5.39 0 Kinetochore;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis. May act as a cotranscription partner of NFE2L2 involved in regulation of polyamine-induced transcription of SSAT. NA NA Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 1 +NX_Q6P1K8 General transcription factor IIH subunit 2-like protein 395 44452 6.13 0 Nucleus NA Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. NA Belongs to the GTF2H2 family. Basal transcription factors;Nucleotide excision repair;Basal transcription factors;Nucleotide excision repair PE1 5 +NX_Q6P1L5 Protein FAM117B 589 61968 9.86 0 Nucleoplasm;Centrosome NA NA NA NA NA PE1 2 +NX_Q6P1L6 Zinc finger protein 343 599 69220 9.19 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 20 +NX_Q6P1L8 39S ribosomal protein L14, mitochondrial 145 15948 10.26 0 Mitochondrion NA Forms part of 2 intersubunit bridges in the assembled ribosome. Upon binding to MALSU1 intersubunit bridge formation is blocked, preventing ribosome formation and repressing translation (Probable). NA Belongs to the universal ribosomal protein uL14 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 6 +NX_Q6P1M0 Long-chain fatty acid transport protein 4 643 72064 8.77 2 Membrane;Cytoplasmic vesicle;Endoplasmic reticulum membrane Ichthyosis prematurity syndrome Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Appears to be the principal fatty acid transporter in small intestinal enterocytes. Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis. Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids (VLCFAs). Indirectly inhibits RPE65 via substrate competition and via production of VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones (By similarity). NA Belongs to the ATP-dependent AMP-binding enzyme family. PPAR signaling pathway;Fat digestion and absorption;Transport of fatty acids;Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS) PE1 9 +NX_Q6P1M3 LLGL scribble cell polarity complex component 2 1020 113448 7.22 0 Cytoplasmic vesicle;Cytosol;Cytoplasm NA Part of a complex with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par-6, which may ensure the correct organization and orientation of bipolar spindles for normal cell division. This complex plays roles in the initial phase of the establishment of epithelial cell polarity. Phosphorylated at Ser-653 by PRKCI. Phosphorylation is enhanced during cell polarization induced by calcium. Phosphorylation may occur during the cell-cell contact-induced cell polarization and may contribute to the segregation of LLGL2 from the PRKCI/aPKC and PARD6B/Par-6 complex. Belongs to the WD repeat L(2)GL family. Tight junction PE1 17 +NX_Q6P1M9 Armadillo repeat-containing X-linked protein 5 558 62346 8.85 0 Cytosol;Nucleus speckle;Cell membrane NA NA NA Belongs to the eutherian X-chromosome-specific Armcx family. NA PE1 X +NX_Q6P1N0 Coiled-coil and C2 domain-containing protein 1A 951 104062 8.22 0 Cytoplasm;Cell membrane;Nucleolus;Centrosome;Cytosol;Nucleus Mental retardation, autosomal recessive 3 Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis. Phosphorylation on Ser-208 by CDK1 promotes spindle pole localization and association with SCC1/RAD21. Belongs to the CC2D1 family. NA PE1 19 +NX_Q6P1N9 Putative deoxyribonuclease TATDN1 297 33602 6.51 0 Nucleoplasm;Nucleus NA Putative deoxyribonuclease. NA Belongs to the metallo-dependent hydrolases superfamily. TatD-type hydrolase family. NA PE1 8 +NX_Q6P1Q0 LETM1 domain-containing protein 1 360 41790 10.32 1 Mitochondrion outer membrane;Nucleoplasm;Mitochondrion;Nucleolus NA Involved in tumorigenesis and may function as a negative regulator of the p53/TP53. NA NA NA PE1 12 +NX_Q6P1Q9 tRNA N(3)-methylcytidine methyltransferase METTL2B 378 43426 5.59 0 NA NA S-adenosyl-L-methionine-dependent methyltransferase that mediates N(3)-methylcytidine modification of residue 32 of the tRNA anticodon loop of tRNA(Thr)(UGU) and tRNA(Arg)(CCU). NA Belongs to the methyltransferase superfamily. METL family. Histidine metabolism;Tyrosine metabolism PE1 7 +NX_Q6P1R3 Myb/SANT-like DNA-binding domain-containing protein 2 559 61319 5.86 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 11 +NX_Q6P1R4 tRNA-dihydrouridine(16/17) synthase [NAD(P)(+)]-like 473 53230 8.65 0 Cell membrane NA Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs. NA Belongs to the Dus family. Dus1 subfamily. NA PE1 17 +NX_Q6P1S2 Protein C3orf33 294 33765 9.85 1 Membrane;Nucleoplasm;Cytosol;Secreted NA Secreted protein may play a role in transcription regulation via the MAPK3/MAPK1 pathway through an unidentified receptor on the plasma membrane. NA NA NA PE1 3 +NX_Q6P1W5 Uncharacterized protein C1orf94 598 65353 8.56 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 1 +NX_Q6P1X5 Transcription initiation factor TFIID subunit 2 1199 136971 8.45 0 Nucleus Mental retardation, autosomal recessive 40 Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. It requires core promoter-specific cofactors for productive transcription stimulation. TAF2 stabilizes TFIID binding to core promoter. NA Belongs to the TAF2 family. Basal transcription factors;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;Regulation of TP53 Activity through Phosphorylation PE1 8 +NX_Q6P1X6 UPF0598 protein C8orf82 216 23889 9.36 0 Nucleoplasm NA NA NA Belongs to the UPF0598 family. NA PE1 8 +NX_Q6P280 Zinc finger protein 529 563 65865 8.54 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q6P2C0 WD repeat-containing protein 93 686 77378 5.99 0 Cytoskeleton NA NA NA NA NA PE1 15 +NX_Q6P2C8 Mediator of RNA polymerase II transcription subunit 27 311 35432 9.37 0 Nucleus;Nucleoplasm;Cytosol;Nucleolus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 27 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 9 +NX_Q6P2D0 Zinc finger protein 1 homolog 407 47516 8.85 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_Q6P2D8 X-ray radiation resistance-associated protein 1 792 89864 9.06 0 Nucleoplasm;Cytoplasm;Nucleus NA May be involved in the response of cells to X-ray radiation. NA NA NA PE1 11 +NX_Q6P2E9 Enhancer of mRNA-decapping protein 4 1401 151661 5.55 0 Nucleoplasm;Cytosol;P-body;Nucleus NA In the process of mRNA degradation, seems to play a role in mRNA decapping. Component of a complex containing DCP2 and DCP1A which functions in decapping of ARE-containing mRNAs. Promotes complex formation between DCP1A and DCP2. Enhances the catalytic activity of DCP2 (in vitro). NA Belongs to the WD repeat EDC4 family. RNA degradation;mRNA decay by 5' to 3' exoribonuclease PE1 16 +NX_Q6P2H3 Centrosomal protein of 85 kDa 762 85639 5.68 0 Golgi apparatus;Nucleolus;Spindle pole;Centrosome;Cytosol NA Acts as a negative regulator of NEK2 to maintain the centrosome integrity in interphase. Suppresses centrosome disjunction by inhibiting NEK2 kinase activity (PubMed:26220856). NA Belongs to the CEP85 family. NA PE1 1 +NX_Q6P2H8 Transmembrane protein 53 277 31630 8.81 1 Membrane;Golgi apparatus;Focal adhesion NA NA NA Belongs to the TMEM53 family. NA PE1 1 +NX_Q6P2I3 Fumarylacetoacetate hydrolase domain-containing protein 2B 314 34613 7.64 0 NA NA May have hydrolase activity. NA Belongs to the FAH family. NA PE1 2 +NX_Q6P2I7 Endogenous Bornavirus-like nucleoprotein 2 272 30450 9.2 0 Nucleoplasm;Nucleus NA May act as an RNA-binding protein. The C-terminal region is highly homologous to the bornavirus nucleocapsid N protein that binds viral RNA and oligomerizes. The viral protein also possesses a nuclear import and a nuclear export signal. These 2 signals seem absent in EBLN-2 supporting an unrelated function in Human. NA NA NA PE2 3 +NX_Q6P2M8 Calcium/calmodulin-dependent protein kinase type 1B 343 38500 6.28 0 Golgi apparatus;Cytoplasm;Cell membrane;Cytosol;Nucleus NA Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates CREB1 and SYN1/synapsin I. Phosphorylates and activates CAMK1 (By similarity). Phosphorylated by CAMKK1. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. NA PE1 X +NX_Q6P2P2 Protein arginine N-methyltransferase 9 845 94501 5.12 0 Nucleoplasm;Cytosol;Cytoplasm;Cytoskeleton NA Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA). Specifically mediates the symmetrical dimethylation of SF3B2. Involved in the regulation of alternative splicing of pre-mRNA (PubMed:25737013, PubMed:25979344). NA Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family. NA PE1 4 +NX_Q6P2Q9 Pre-mRNA-processing-splicing factor 8 2335 273600 8.95 0 Nucleoplasm;Nucleus speckle;Nucleus Retinitis pigmentosa 13 Plays role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes, both of the predominant U2-type spliceosome and the minor U12-type spliceosome (PubMed:10411133, PubMed:11971955, PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30728453, PubMed:30705154). Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome. Functions as scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5' and the 3' splice site. NA NA Spliceosome;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway PE1 17 +NX_Q6P2S7 Putative tetratricopeptide repeat protein 41 1318 151684 8.53 0 Cytoplasm NA NA NA NA NA PE5 12 +NX_Q6P387 Uncharacterized protein C16orf46 395 43418 8.79 0 Nucleoplasm;Cytosol NA NA NA NA NA PE2 16 +NX_Q6P3R8 Serine/threonine-protein kinase Nek5 708 81445 9.05 0 NA NA NA NA Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. NA PE1 13 +NX_Q6P3S1 DENN domain-containing protein 1B 775 86552 5.54 0 Clathrin-coated vesicle;Cytosol;Nucleus speckle Asthma Guanine nucleotide exchange factor (GEF) for RAB35 that acts as a regulator of T-cell receptor (TCR) internalization in TH2 cells (PubMed:20154091, PubMed:20937701, PubMed:24520163, PubMed:26774822). Acts by promoting the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form (PubMed:20154091, PubMed:20937701). Plays a role in clathrin-mediated endocytosis (PubMed:20154091). Controls cytokine production in TH2 lymphocytes by controlling the rate of TCR internalization and routing to endosomes: acts by mediating clathrin-mediated endocytosis of TCR via its interaction with the adapter protein complex 2 (AP-2) and GEF activity (PubMed:26774822). Dysregulation leads to impaired TCR down-modulation and recycling, affecting cytokine production in TH2 cells (PubMed:26774822). Phosphorylated on serine and/or threonine, possibly regulating the guanine nucleotide exchange factor (GEF) activity. NA RAB GEFs exchange GTP for GDP on RABs PE1 1 +NX_Q6P3S6 F-box only protein 42 717 77839 7.07 0 Nucleoplasm NA Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Specifically recognizes p53/TP53, promoting its ubiquitination and degradation. NA NA NA PE1 1 +NX_Q6P3V2 Zinc finger protein 585A 769 87974 9.26 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q6P3W2 DnaJ homolog subfamily C member 24 149 17139 4.53 0 Cytosol;Cytoskeleton NA Stimulates the ATPase activity of several Hsp70-type chaperones. This ability is enhanced by iron-binding. The iron-bound form is redox-active and can function as electron carrier. Plays a role in the diphthamide biosynthesis, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta). NA Belongs to the DPH4 family. Protein modification; peptidyl-diphthamide biosynthesis.;Synthesis of diphthamide-EEF2 PE1 11 +NX_Q6P3W6 Neuroblastoma breakpoint family member 10 841 96426 4.63 0 Cytoplasm NA NA NA Belongs to the NBPF family. NA PE1 1 +NX_Q6P3W7 SCY1-like protein 2 929 103709 8.45 0 Clathrin-coated vesicle;trans-Golgi network membrane;Perinuclear region;Endosome membrane NA Component of AP2-containing clathrin coated structures at the plasma membrane or of endocytic coated vesicles. According to PubMed:15809293, probable serine/threonine-protein kinase that phosphorylates, in vitro, the beta2-subunit of the plasma membrane adapter complex AP2 and other proteins in presence of poly-L-lysine. According to PubMed:16914521, has no detectable kinase activity in vitro. May regulate clathrin-dependent trafficking between the TGN and/or the endosomal system. According to PubMed:15809293, autophosphorylated in presence of poly-L-lysine. Belongs to the protein kinase superfamily. NA PE1 12 +NX_Q6P3X3 Tetratricopeptide repeat protein 27 843 96632 5.42 0 Mitochondrion;Nucleolus NA NA NA Belongs to the TTC27 family. NA PE1 2 +NX_Q6P3X8 PiggyBac transposable element-derived protein 2 592 68011 8.82 0 Cytoplasmic vesicle NA NA NA NA NA PE1 1 +NX_Q6P435 Putative uncharacterized SMG1-like protein 159 17652 9.6 0 NA NA NA NA NA NA PE5 16 +NX_Q6P444 Mitochondrial fission regulator 2 385 43384 6.53 0 Cytoplasmic vesicle;Mitochondrion NA May play a role in mitochondrial aerobic respiration essentially in the testis. Can also promote mitochondrial fission (By similarity). NA Belongs to the MTFR1 family. NA PE1 6 +NX_Q6P461 Acyl-coenzyme A synthetase ACSM6, mitochondrial 480 53585 8.73 0 Mitochondrion NA Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism. NA Belongs to the ATP-dependent AMP-binding enzyme family. Beta oxidation of butanoyl-CoA to acetyl-CoA PE2 10 +NX_Q6P474 Putative pyridoxal-dependent decarboxylase domain-containing protein 2 469 51810 5.65 0 NA NA NA NA Belongs to the group II decarboxylase family. NA PE5 16 +NX_Q6P499 NIPA-like protein 3 406 44742 8.1 9 Membrane;Nucleoplasm NA NA NA Belongs to the NIPA family. Miscellaneous transport and binding events PE1 1 +NX_Q6P4A7 Sideroflexin-4 337 37998 9.3 5 Mitochondrion inner membrane Combined oxidative phosphorylation deficiency 18 Mitochondrial amino-acid transporter (By similarity). Does not act as a serine transporter: not able to mediate transport of serine into mitochondria (PubMed:30442778). NA Belongs to the sideroflexin family. NA PE1 10 +NX_Q6P4A8 Phospholipase B-like 1 553 63255 9.11 0 Lysosome NA In view of the small size of the putative binding pocket, it has been proposed that it may act as an amidase or a peptidase (By similarity). Exhibits a weak phospholipase activity, acting on various phospholipids, including phosphatidylcholine, phosphatidylinositol, phosphatidylethanolamine and lysophospholipids. The maturation cleavages that produces chains A and B are required to open the putative substrate binding pocket. Both chains A and B remain associated in the mature protein. Belongs to the phospholipase B-like family. Acyl chain remodelling of PC;Acyl chain remodelling of PE;Acyl chain remodelling of PI;Hydrolysis of LPC PE1 12 +NX_Q6P4D5 Protein FAM122C 195 22522 9.92 0 Nucleoplasm NA NA NA Belongs to the FAM122 family. NA PE1 X +NX_Q6P4E1 Protein CASC4 436 49498 5.14 1 Membrane;Golgi apparatus NA NA NA Belongs to the GOLM1/CASC4 family. NA PE1 15 +NX_Q6P4F1 Alpha-(1,3)-fucosyltransferase 10 479 56094 8.62 1 Golgi stack membrane;Endoplasmic reticulum;Nucleoplasm;Golgi apparatus NA Probable fucosyltransferase. NA Belongs to the glycosyltransferase 10 family. Protein modification; protein glycosylation.;Lewis blood group biosynthesis PE1 8 +NX_Q6P4F2 Ferredoxin-2, mitochondrial 186 19888 5.31 0 Mitochondrion matrix;Mitochondrion Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy Essential for heme A and Fe/S protein biosynthesis. NA Belongs to the adrenodoxin/putidaredoxin family. Mitochondrial iron-sulfur cluster biogenesis;Pregnenolone biosynthesis;Endogenous sterols;Electron transport from NADPH to Ferredoxin;Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) PE1 19 +NX_Q6P4F7 Rho GTPase-activating protein 11A 1023 113866 9.19 0 Cytosol;Nucleolus NA NA NA NA Rho GTPase cycle PE1 15 +NX_Q6P4H8 ATP synthase subunit C lysine N-methyltransferase 233 26110 9.04 1 Cytoplasm;Cell membrane;Nucleoplasm;Mitochondrion membrane;Cytoplasmic vesicle NA Mitochondrial protein-lysine N-methyltransferase that trimethylates ATP synthase subunit C, ATP5MC1 and ATP5MC2. Trimethylation is required for proper incorporation of the C subunit into the ATP synthase complex and mitochondrial respiration (PubMed:29444090, PubMed:30530489). Promotes chronic pain (PubMed:29444090). Involved in persistent inflammatory and neuropathic pain: methyltransferase activity in the mitochondria of sensory neurons promotes chronic pain via a pathway that depends on the production of reactive oxygen species (ROS) and on the engagement of spinal cord microglia (PubMed:29444090). NA Belongs to the ANT/ATPSC lysine N-methyltransferase family. NA PE1 5 +NX_Q6P4I2 WD repeat-containing protein 73 378 41685 5.46 0 Spindle pole;Spindle;Cleavage furrow;Cytosol Galloway-Mowat syndrome 1 May play a role in the regulation of microtubule organization and dynamics (PubMed:25466283). NA Belongs to the WD repeat WDR73 family. NA PE1 15 +NX_Q6P4Q7 Metal transporter CNNM4 775 86607 5.75 3 Cytoskeleton;Cell membrane Jalili syndrome Probable metal transporter. The interaction with the metal ion chaperone COX11 suggests that it may play a role in sensory neuron functions (By similarity). May play a role in biomineralization and retinal function. NA Belongs to the ACDP family. NA PE1 2 +NX_Q6P4R8 Nuclear factor related to kappa-B-binding protein 1299 139001 9.29 0 Nucleoplasm;Nucleus NA Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Modulates the deubiquitinase activity of UCHL5 in the INO80 complex.;Binds to the DNA consensus sequence 5'-GGGGAATCTCC-3'. NA Belongs to the NFRKB family. DNA Damage Recognition in GG-NER;UCH proteinases PE1 11 +NX_Q6P531 Glutathione hydrolase 6 493 50509 5.66 1 Membrane NA Cleaves glutathione conjugates. NA Belongs to the gamma-glutamyltransferase family. Sulfur metabolism; glutathione metabolism.;Taurine and hypotaurine metabolism;Cyanoamino acid metabolism;Glutathione metabolism;Arachidonic acid metabolism;Metabolic pathways;Aflatoxin activation and detoxification;Glutathione synthesis and recycling PE1 17 +NX_Q6P575 Putative inactive beta-glucuronidase protein GUSBP11 273 29908 6.54 0 NA NA NA NA Belongs to the glycosyl hydrolase 2 family. NA PE5 22 +NX_Q6P582 Mitotic-spindle organizing protein 2A 158 16221 9.66 0 Cytoplasm;Spindle;Centrosome NA NA NA Belongs to the MOZART2 family. Recruitment of mitotic centrosome proteins and complexes;Recruitment of NuMA to mitotic centrosomes PE1 2 +NX_Q6P587 Acylpyruvase FAHD1, mitochondrial 224 24843 6.96 0 Nucleoplasm;Cytosol;Mitochondrion NA Probable mitochondrial acylpyruvase which is able to hydrolyze acetylpyruvate and fumarylpyruvate in vitro (PubMed:15551868, PubMed:21878618). Also has oxaloacetate decarboxylase activity (PubMed:25575590). NA Belongs to the FAH family. Citric acid cycle (TCA cycle) PE1 16 +NX_Q6P589 Tumor necrosis factor alpha-induced protein 8-like protein 2 184 20556 8.54 0 Cytoplasmic vesicle NA Acts as a negative regulator of innate and adaptive immunity by maintaining immune homeostasis. Negative regulator of Toll-like receptor and T-cell receptor function. Prevents hyperresponsiveness of the immune system and maintains immune homeostasis. Inhibits JUN/AP1 and NF-kappa-B activation. Promotes Fas-induced apoptosis (By similarity). NA Belongs to the TNFAIP8 family. TNFAIP8L2 subfamily. PI Metabolism PE1 1 +NX_Q6P597 Kinesin light chain 3 504 55364 6.06 0 Nucleoplasm;Cytosol;Cytoskeleton NA Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. NA Belongs to the kinesin light chain family. Salmonella infection;MHC class II antigen presentation;Kinesins;RHO GTPases activate KTN1;COPI-dependent Golgi-to-ER retrograde traffic PE1 19 +NX_Q6P5Q4 Leiomodin-2 547 61675 5.63 0 Cytoskeleton;Myofibril;M line;Sarcomere NA Mediates nucleation of actin filaments and thereby promotes actin polymerization (PubMed:18403713, PubMed:26370058, PubMed:25250574, PubMed:26417072). Plays a role in the regulation of actin filament length (By similarity). Required for normal sarcomere organization in the heart, and for normal heart function (PubMed:18403713). NA Belongs to the tropomodulin family. NA PE1 7 +NX_Q6P5R6 60S ribosomal protein L22-like 1 122 14607 9.37 0 NA NA NA NA Belongs to the eukaryotic ribosomal protein eL22 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 3 +NX_Q6P5S2 Protein LEG1 homolog 330 37926 5.78 0 Secreted NA May be involved in early liver development. NA Belongs to the LEG1 family. NA PE1 6 +NX_Q6P5S7 Ribonuclease kappa 137 15420 9.21 2 Membrane NA (Microbial infection) Required for the initial stages of clathrin-mediated endocytic uptake of a diverse set of viruses, including dengue, West Nile, Sindbis, Rift Valley Fever, and influenza viruses (PubMed:26056282). Not required for clathrin-mediated endocytosis and macropinocytosis (PubMed:26056282).;Endoribonuclease which preferentially cleaves ApU and ApG phosphodiester bonds. Hydrolyzes UpU bonds at a lower rate. NA Belongs to the RNase K family. NA PE1 17 +NX_Q6P5W5 Zinc transporter ZIP4 647 68408 5.27 6 Recycling endosome membrane;Cell membrane Acrodermatitis enteropathica, zinc-deficiency type Plays an important role in cellular zinc homeostasis as a zinc transporter. Regulated in response to zinc availability (By similarity). NA Belongs to the ZIP transporter (TC 2.A.5) family. Zinc influx into cells by the SLC39 gene family;Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ) PE1 8 +NX_Q6P5X5 UPF0545 protein C22orf39 142 16805 8.22 0 Endoplasmic reticulum NA NA NA Belongs to the UPF0545 family. NA PE1 22 +NX_Q6P5X7 Transmembrane protein 71 295 32983 6.06 2 Membrane;Mitochondrion NA NA NA Belongs to the TMEM71 family. NA PE2 8 +NX_Q6P5Z2 Serine/threonine-protein kinase N3 889 99421 8.77 0 Cytoplasmic vesicle;Perinuclear region;Nucleus NA Contributes to invasiveness in malignant prostate cancer. Autophosphorylated.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily. Salmonella infection;RHO GTPases activate PKNs PE1 9 +NX_Q6P656 Cilia- and flagella-associated protein 161 301 34294 5.84 0 NA NA May play a role in motile cilia function, possibly by acting on dynein arm assembly. NA NA NA PE1 15 +NX_Q6P6B1 Glutamate-rich protein 5 374 39936 4.46 0 Nucleoplasm;Golgi apparatus;Cytosol NA NA NA NA NA PE1 8 +NX_Q6P6B7 Ankyrin repeat domain-containing protein 16 361 39284 6.82 0 Endoplasmic reticulum;Cytoplasm;Nucleus NA Required to prevent the misactivation of serine (Ser) with tRNA(Ala) by promoting the hydrolysis of Ser-mischarged tRNA(Ala), thereby playing a role in translational fidelity. Binds directly to the catalytic domain of AARS/AlaRS and captures Ser that is misactivated by AARS/AlaRS, preventing the charging of Ser adenylates to tRNA(Ala) and precluding Ser misincorporation in nascent peptides. NA NA NA PE1 10 +NX_Q6P6C2 RNA demethylase ALKBH5 394 44256 9.19 0 Golgi apparatus;Nucleoplasm;Nucleus speckle;Cytosol NA Dioxygenase that demethylates RNA by oxidative demethylation: specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes (PubMed:23177736, PubMed:24489119, PubMed:24616105, PubMed:24778178). Can also demethylate N(6)-methyladenosine in single-stranded DNA (in vitro) (PubMed:24616105). Requires molecular oxygen, alpha-ketoglutarate and iron (PubMed:21264265, PubMed:23177736, PubMed:24489119, PubMed:24616105, PubMed:24778178). Demethylation of m6A mRNA affects mRNA processing and export (PubMed:23177736). Required for the late meiotic and haploid phases of spermatogenesis by mediating m6A demethylation in spermatocytes and round spermatids: m6A demethylation of target transcripts is required for correct splicing and the production of longer 3'-UTR mRNAs in male germ cells (By similarity). NA Belongs to the alkB family. Reversal of alkylation damage by DNA dioxygenases PE1 17 +NX_Q6P7N7 Transmembrane protein 81 255 28468 8.92 1 Membrane;Cytoskeleton NA NA NA NA NA PE2 1 +NX_Q6P988 Palmitoleoyl-protein carboxylesterase NOTUM 496 55699 7.52 0 Secreted NA Carboxylesterase that acts as a key negative regulator of the Wnt signaling pathway by specifically mediating depalmitoleoylation of WNT proteins. Serine palmitoleoylation of WNT proteins is required for efficient binding to frizzled receptors (PubMed:25731175). NA Belongs to the pectinacetylesterase family. Notum subfamily. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Release of Hh-Np from the secreting cell;Post-translational protein phosphorylation PE1 17 +NX_Q6P995 Protein FAM171B 826 92181 8.79 1 Membrane;Nucleoplasm;Mitochondrion NA NA NA Belongs to the FAM171 family. NA PE1 2 +NX_Q6P996 Pyridoxal-dependent decarboxylase domain-containing protein 1 788 86707 5.25 0 NA NA NA NA Belongs to the group II decarboxylase family. NA PE1 16 +NX_Q6P9A1 Zinc finger protein 530 599 68837 9.01 0 Cytoplasmic vesicle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q6P9A2 Polypeptide N-acetylgalactosaminyltransferase 18 607 69561 6.07 1 Mitochondrion;Golgi apparatus membrane NA Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 11 +NX_Q6P9A3 Zinc finger protein 549 640 74439 8.88 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q6P9B6 MTOR-associated protein MEAK7 456 50994 5.81 0 Cytoplasm;Nucleolus;Membrane;Nucleoplasm;Lysosome;Cytosol NA Activates an alternative mTOR signaling through RPS6KB2 activation and EIF4EBP1 repression to regulate cell proliferation and migration (PubMed:29750193). Recruits MTOR at the lysosome, essential for MTOR signaling at the lysosome (PubMed:29750193). NA NA NA PE1 16 +NX_Q6P9B9 Integrator complex subunit 5 1019 107995 6.58 3 Cytoplasm;Nucleus membrane;Nucleoplasm;Cytosol;Nucleus NA Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267). NA Belongs to the Integrator subunit 5 family. RNA polymerase II transcribes snRNA genes PE1 11 +NX_Q6P9F0 Coiled-coil domain-containing protein 62 684 77748 5.73 0 Cytoplasm;Nucleoplasm;Nucleus;Cell membrane NA Nuclear receptor coactivator that can enhance preferentially estrogen receptors ESR1 and ESR2 transactivation. Modulates also progesterone/PGR, glucocorticoid/NR3C1 and androgen/AR receptors transactivation, although at lower level; little effect on vitamin D receptor/VDR. NA NA NA PE1 12 +NX_Q6P9F5 Tripartite motif-containing protein 40 258 29336 7.54 0 NA NA May function as an E3 ubiquitin-protein ligase of the NEDD8 conjugation pathway. Promotes neddylation of IKBKG/NEMO, stabilizing NFKBIA, and inhibiting of NF-kappaB nuclear translocation and activity. NA Belongs to the TRIM/RBCC family. NA PE1 6 +NX_Q6P9F7 Volume-regulated anion channel subunit LRRC8B 803 92390 6.4 4 Nucleus speckle;Endoplasmic reticulum membrane;Cell membrane NA Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24790029, PubMed:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658, PubMed:28193731). NA Belongs to the LRRC8 family. Miscellaneous transport and binding events PE1 1 +NX_Q6P9G0 Cytochrome b5 domain-containing protein 1 228 26689 5.37 0 Golgi apparatus;Nucleolus NA NA NA Belongs to the cytochrome b5 family. NA PE1 17 +NX_Q6P9G4 Transmembrane protein 154 183 20498 4.5 1 Membrane;Nucleoplasm;Nucleus membrane NA NA NA NA NA PE1 4 +NX_Q6P9G9 Zinc finger protein 449 518 59932 6.96 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 X +NX_Q6P9H4 Connector enhancer of kinase suppressor of ras 3 555 61904 8.94 0 Cytoplasm;Cytosol;Mitochondrion;Apical cell membrane NA Involved in transepithelial sodium transport. Regulates aldosterone-induced and epithelial sodium channel (ENaC)-mediated sodium transport through regulation of ENaC cell surface expression. Acts as a scaffold protein coordinating the assembly of an ENaC-regulatory complex (ERC). NA Belongs to the CNKSR family. NA PE1 6 +NX_Q6P9H5 GTPase IMAP family member 6 292 32949 4.86 0 Cytosol NA NA NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase family. IAN subfamily. NA PE1 7 +NX_Q6PB30 Putative chondrosarcoma-associated gene 1 protein 78 8697 10.94 0 NA NA NA NA NA NA PE2 X +NX_Q6PCB0 von Willebrand factor A domain-containing protein 1 445 46804 7.18 0 Basement membrane NA Promotes matrix assembly. N-glycosylated. NA Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 1 +NX_Q6PCB5 Lysine-specific demethylase RSBN1L 846 94870 8.91 0 Nucleus speckle;Nucleus;Cell membrane NA Lysine-specific demethylase that specifically demethylates methylated lysine residues of proteins. NA Belongs to the round spermatid basic protein 1 family. NA PE1 7 +NX_Q6PCB6 Alpha/beta hydrolase domain-containing protein 17C 329 35831 5.42 0 Postsynaptic density;Dendritic spine;Recycling endosome membrane NA Hydrolyzes fatty acids from S-acylated cysteine residues in proteins. Has depalmitoylating activity towards NRAS and DLG4/PSD95. Palmitoylated on cysteine residues located in a cysteine cluster at the N-terminus which promotes membrane localization. Palmitoylation is required for post-synaptic localization and for depalmitoylating activity towards DLG4/PSD95. Belongs to the AB hydrolase superfamily. ABHD17 family. NA PE1 15 +NX_Q6PCB7 Long-chain fatty acid transport protein 1 646 71108 8.83 1 Cytoplasm;Mitochondrion;Cell membrane;Endomembrane system;Cytosol NA Mediates the ATP-dependent import of long-chain fatty acids (LCFA) into the cell by mediating their translocation at the plasma membrane (PubMed:28178239). Has also an acyl-CoA ligase activity for long-chain and very-long-chain fatty acids. May act directly as a bona fide transporter, or alternatively, in a cytoplasmic or membrane-associated multimeric protein complex to trap and draw fatty acids towards accumulation. Plays a pivotal role in regulating available LCFA substrates from exogenous sources in tissues undergoing high levels of beta-oxidation or triglyceride synthesis. May be involved in regulation of cholesterol metabolism (By similarity). NA Belongs to the ATP-dependent AMP-binding enzyme family. PPAR signaling pathway;PPARA activates gene expression;Transport of fatty acids PE1 19 +NX_Q6PCB8 Embigin 327 36881 6.13 1 Synapse;Cell membrane NA Plays a role in the outgrowth of motoneurons and in the formation of neuromuscular junctions. Following muscle denervation, promotes nerve terminal sprouting and the formation of additional acetylcholine receptor clusters at synaptic sites without affecting terminal Schwann cell number or morphology. Delays the retraction of terminal sprouts following re-innervation of denervated endplates. May play a role in targeting the monocarboxylate transporters SLC16A1 and SLC16A7 to the cell membrane (By similarity). NA NA Proton-coupled monocarboxylate transport PE1 5 +NX_Q6PCD5 E3 ubiquitin-protein ligase RFWD3 774 85094 6.02 0 Cytoplasm;Nucleoplasm;PML body;Cytosol;Nucleus Fanconi anemia, complementation group W E3 ubiquitin-protein ligase required for the repair of DNA interstrand cross-links (ICL) in response to DNA damage (PubMed:21504906, PubMed:21558276, PubMed:26474068, PubMed:28575657, PubMed:28575658). Plays a key role in RPA-mediated DNA damage signaling and repair (PubMed:21504906, PubMed:21558276, PubMed:26474068, PubMed:28575657, PubMed:28575658, PubMed:28691929). Acts by mediating ubiquitination of the RPA complex (RPA1, RPA2 and RPA3 subunits) and RAD51 at stalled replication forks, leading to remove them from DNA damage sites and promote homologous recombination (PubMed:26474068, PubMed:28575657, PubMed:28575658). Also mediates the ubiquitination of p53/TP53 in the late response to DNA damage, and acts as a positive regulator of p53/TP53 stability, thereby regulating the G1/S DNA damage checkpoint (PubMed:20173098). May act by catalyzing the formation of short polyubiquitin chains on p53/TP53 that are not targeted to the proteasome (PubMed:20173098). In response to ionizing radiation, interacts with MDM2 and enhances p53/TP53 ubiquitination, possibly by restricting MDM2 from extending polyubiquitin chains on ubiquitinated p53/TP53 (PubMed:20173098). Phosphorylated at Ser-46 and Ser-63 upon DNA damage by ATM or ATR. ATM phosphorylation occurs at early times upon DNA damage, while ATR is the major kinase at later times. Phosphorylation by ATM and ATR is required to stabilize p53/TP53. Part of the phosphorylation depends upon RPA2 presence. NA Protein modification; protein ubiquitination. PE1 16 +NX_Q6PCE3 Glucose 1,6-bisphosphate synthase 622 70442 6.81 0 Mitochondrion NA Glucose 1,6-bisphosphate synthase using 1,3-bisphosphoglycerate as a phosphate donor and a series of 1-phosphate sugars as acceptors, including glucose 1-phosphate, mannose 1-phosphate, ribose 1-phosphate and deoxyribose 1-phosphate. 5 or 6-phosphosugars are bad substrates, with the exception of glucose 6-phosphate. Also synthesizes ribose 1,5-bisphosphate. Has only low phosphopentomutase and phosphoglucomutase activities. NA Belongs to the phosphohexose mutase family. Starch and sucrose metabolism;Glycolysis;Glycogen synthesis;Glycogen breakdown (glycogenolysis);Galactose catabolism PE1 11 +NX_Q6PCT2 F-box/LRR-repeat protein 19 694 75707 9.44 0 Cytoskeleton NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 16 +NX_Q6PD62 RNA polymerase-associated protein CTR9 homolog 1173 133502 6.32 0 Nucleoplasm;Nucleus speckle NA Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Required for mono- and trimethylation on histone H3 'Lys-4' (H3K4me3) and dimethylation on histone H3 'Lys-79' (H3K4me3). Required for Hox gene transcription. Required for the trimethylation of histone H3 'Lys-4' (H3K4me3) on genes involved in stem cell pluripotency; this function is synergistic with CXXC1 indicative for an involvement of the SET1 complex. Involved in transcriptional regulation of IL6-responsive genes and in JAK-STAT pathway; may regulate DNA-association of STAT3 (By similarity). NA NA Formation of RNA Pol II elongation complex;RNA Polymerase II Pre-transcription Events;RNA Polymerase II Transcription Elongation;E3 ubiquitin ligases ubiquitinate target proteins PE1 11 +NX_Q6PD74 Alpha- and gamma-adaptin-binding protein p34 315 34594 4.5 0 Cytoplasm;Cytosol;Nucleus speckle Keratoderma, palmoplantar, punctate 1A May be involved in endocytic recycling of growth factor receptors such as EGFR. NA NA NA PE1 15 +NX_Q6PDA7 Sperm-associated antigen 11A 123 13842 10.54 0 Secreted NA May have antimicrobial activity. May also play a role sperm maturation, storage, and protection. NA Belongs to the SPAG11 family. NA PE1 8 +NX_Q6PDB4 Zinc finger protein 880 577 66762 9.45 0 NA NA NA NA NA NA PE2 19 +NX_Q6PEV8 Protein FAM199X 388 42801 4.95 0 Golgi apparatus;Nucleoplasm;Cytosol NA NA NA Belongs to the FAM199 family. NA PE1 X +NX_Q6PEW0 Inactive serine protease 54 395 43832 6.22 0 Secreted NA NA NA Belongs to the peptidase S1 family. Plasma kallikrein subfamily. NA PE1 16 +NX_Q6PEW1 Zinc finger CCHC domain-containing protein 12 402 45369 5.87 0 Nucleus NA Transcriptional coactivator in the bone morphogenetic protein (BMP)-signaling pathway. It positively modulates BMP signaling by interacting with SMAD1 and associating with CBP in the transcription complex. It contributes to the BMP-induced enhancement of cholinergic-neuron-specific gene expression (By similarity). NA Belongs to the ZCCHC12 family. NA PE1 X +NX_Q6PEX3 Keratin-associated protein 26-1 210 22554 8.03 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the PMG family. Keratinization PE1 21 +NX_Q6PEX7 Testis-expressed protein 38 206 23280 5.84 1 Membrane NA NA NA NA NA PE1 1 +NX_Q6PEY0 Gap junction beta-7 protein 223 25860 8.91 4 Gap junction;Cell membrane NA One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. NA Belongs to the connexin family. Beta-type (group I) subfamily. Gap junction assembly PE2 6 +NX_Q6PEY1 Transmembrane protein 88 159 17251 10.11 2 Cell membrane NA Inhibits the Wnt/beta-catenin signaling pathway. Crucial for heart development and acts downstream of GATA factors in the pre-cardiac mesoderm to specify lineage commitment of cardiomyocyte development. NA Belongs to the TMEM88 family. NA PE1 17 +NX_Q6PEY2 Tubulin alpha-3E chain 450 49859 5.01 0 Cytoskeleton NA Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). Acetylation of alpha chains at Lys-40 is located inside the microtubule lumen. This modification has been correlated with increased microtubule stability, intracellular transport and ciliary assembly.;Methylation of alpha chains at Lys-40 is found in mitotic microtubules and is required for normal mitosis and cytokinesis contributing to genomic stability.;Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).;Nitration of Tyr-450 is irreversible and interferes with normal dynein intracellular distribution.;Undergoes a tyrosination/detyrosination cycle, the cyclic removal and re-addition of a C-terminal tyrosine residue by the enzymes tubulin tyrosine carboxypeptidase (VASH1 or VASH2) and tubulin tyrosine ligase (TTL), respectively.;Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).;Tubulin alpha-1B chain: Tyrosination promotes microtubule interaction with CAP-Gly domain-containing proteins such as CLIP1, CLIP2 and DCTN1 (By similarity). Tyrosination regulates the initiation of dynein-dynactin motility via interaction with DCTN1, which brings the dynein-dynactin complex into contact with microtubules (PubMed:26972003). In neurons, tyrosinated tubulins mediate the initiation of retrograde vesicle transport (By similarity).;Detyrosinated tubulin alpha-1C chain: Detyrosination is involved in metaphase plate congression by guiding chromosomes during mitosis: detyrosination promotes interaction with CENPE, promoting pole-proximal transport of chromosomes toward the equator (PubMed:25908662). Detyrosination increases microtubules-dependent mechanotransduction in dystrophic cardiac and skeletal muscle. In cardiomyocytes, detyrosinated microtubules are required to resist to contractile compression during contraction: detyrosination promotes association with desmin (DES) at force-generating sarcomeres, leading to buckled microtubules and mechanical resistance to contraction (By similarity). Belongs to the tubulin family. Phagosome;Gap junction;Pathogenic Escherichia coli infection;Separation of Sister Chromatids;MHC class II antigen presentation;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Formation of tubulin folding intermediates by CCT/TriC;Post-chaperonin tubulin folding pathway;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 2 +NX_Q6PEZ8 Podocan-like protein 1 512 56539 9.91 0 Extracellular matrix NA NA N-glycosylated. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class V subfamily. NA PE1 19 +NX_Q6PF04 Zinc finger protein 613 617 70143 9.17 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q6PF05 Tetratricopeptide repeat protein 23-like 361 40837 6.81 0 Spindle;Centrosome;Midbody NA NA NA NA NA PE1 5 +NX_Q6PF06 tRNA methyltransferase 10 homolog B 316 36124 7.05 0 Nucleoplasm;Cell membrane NA S-adenosyl-L-methionine-dependent guanine N(1)-methyltransferase that catalyzes the formation of N(1)-methylguanine at position 9 (m1G9) in tRNAs (PubMed:23042678). Probably not able to catalyze formation of N(1)-methyladenine at position 9 (m1A9) in tRNAs (PubMed:23042678). NA Belongs to the class IV-like SAM-binding methyltransferase superfamily. TRM10 family. NA PE1 9 +NX_Q6PF15 Kelch-like protein 35 583 62892 8.08 0 Nucleoplasm;Centrosome;Nucleolus NA NA NA NA NA PE1 11 +NX_Q6PF18 MORN repeat-containing protein 3 240 27585 8.63 0 Nucleoplasm NA NA NA NA NA PE1 12 +NX_Q6PFW1 Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1 1433 159521 5.26 0 Cytosol;Cell membrane NA Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylates inositol hexakisphosphate (InsP6) at positions 1 or 3 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to produce (PP)2-InsP4. Alternatively, phosphorylates at position 1 or 3 PP-InsP5, produced by IP6Ks from InsP6, to produce (PP)2-InsP4. Activated when cells are exposed to hyperosmotic stress. NA Belongs to the histidine acid phosphatase family. VIP1 subfamily. Synthesis of pyrophosphates in the cytosol PE1 15 +NX_Q6PG37 Zinc finger protein 790 636 74571 8.81 0 Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q6PGN9 Proline/serine-rich coiled-coil protein 1 363 38796 11.21 0 Cytoplasm;Nucleoplasm;Spindle pole;Cytosol;Spindle NA Required for normal progression through mitosis. Required for normal congress of chromosomes at the metaphase plate, and for normal rate of chromosomal segregation during anaphase. Plays a role in the regulation of mitotic spindle dynamics. Increases the rate of turnover of microtubules on metaphase spindles, and contributes to the generation of normal tension across sister kinetochores. Recruits KIF2A and ANKRD53 to the mitotic spindle and spindle poles. May participate in p53/TP53-regulated growth suppression. Phosphorylated during mitosis. Belongs to the PSRC1 family. NA PE1 1 +NX_Q6PGP7 Tetratricopeptide repeat protein 37 1564 175486 7.47 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus Trichohepatoenteric syndrome 1 Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C). NA NA RNA degradation;mRNA decay by 3' to 5' exoribonuclease PE1 5 +NX_Q6PGQ1 Aspartate-rich protein 1 229 25064 3.88 0 Nucleoplasm;Nucleolus;Cell membrane NA NA NA NA NA PE1 22 +NX_Q6PGQ7 Protein aurora borealis 559 61203 4.8 0 Nucleoplasm;Cytosol;Nucleolus NA Required for the activation of AURKA at the onset of mitosis. Phosphorylated by AURKA.;BORA is phosphorylated by AURKA (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the BORA family. Regulation of PLK1 Activity at G2/M Transition PE1 13 +NX_Q6PH81 UPF0547 protein C16orf87 154 17799 10.09 0 Nucleoplasm NA NA NA Belongs to the UPF0547 family. NA PE1 16 +NX_Q6PH85 DCN1-like protein 2 259 30179 5.7 0 Cytosol;Cell membrane NA Potently stimulates the neddylation of cullin components of SCF-type E3 ubiquitin ligase complexes from the NEDD8-conjugating E2 enzyme UBC12. Neddylation of cullins play an essential role in the regulation of SCF-type complexes activity. NA NA Neddylation PE1 13 +NX_Q6PHR2 Serine/threonine-protein kinase ULK3 472 53444 6.91 0 Cytoplasm NA Serine/threonine protein kinase that acts as a regulator of Sonic hedgehog (SHH) signaling and autophagy. Acts as a negative regulator of SHH signaling in the absence of SHH ligand: interacts with SUFU, thereby inactivating the protein kinase activity and preventing phosphorylation of GLI proteins (GLI1, GLI2 and/or GLI3). Positively regulates SHH signaling in the presence of SHH: dissociates from SUFU, autophosphorylates and mediates phosphorylation of GLI2, activating it and promoting its nuclear translocation. Phosphorylates in vitro GLI2, as well as GLI1 and GLI3, although less efficiently. Also acts as a regulator of autophagy: following cellular senescence, able to induce autophagy. Autophosphorylated. Autophosphorylation is blocked by interaction with SUFU. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. APG1/unc-51/ULK1 subfamily. Regulation of autophagy;mTOR signaling pathway;Hedgehog 'on' state PE1 15 +NX_Q6PHW0 Iodotyrosine deiodinase 1 289 33360 7.16 1 Cytoplasmic vesicle membrane;Cell membrane Thyroid dyshormonogenesis 4 Catalyzes the oxidative NADPH-dependent deiodination of monoiodotyrosine (L-MIT) or diiodotyrosine (L-DIT) (PubMed:15289438, PubMed:25395621, PubMed:18434651). Acts during the hydrolysis of thyroglobulin to liberate iodide, which can then reenter the hormone-producing pathways (PubMed:18434651). Acts more efficiently on monoiodotyrosine than on diiodotyrosine (PubMed:15289438). NA Belongs to the nitroreductase family. Thyroxine biosynthesis PE1 6 +NX_Q6PI25 Protein cornichon homolog 2 160 18931 6.87 3 Dendritic spine;Endoplasmic reticulum membrane;Postsynaptic cell membrane;Postsynaptic density;Dendrite NA Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by regulating their rates of activation, deactivation and desensitization. Blocks CACNG8-mediated resensitization of AMPA receptors. NA Belongs to the cornichon family. COPII-mediated vesicle transport;Cargo concentration in the ER PE1 11 +NX_Q6PI26 Protein SHQ1 homolog 577 65125 4.7 0 Nucleoplasm;Cytosol NA Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase, probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA. NA Belongs to the SHQ1 family. NA PE1 3 +NX_Q6PI47 BTB/POZ domain-containing protein KCTD18 426 46739 9.23 0 Mitochondrion NA NA NA NA NA PE1 2 +NX_Q6PI48 Aspartate--tRNA ligase, mitochondrial 645 73563 8.19 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation NA NA Belongs to the class-II aminoacyl-tRNA synthetase family. Type 1 subfamily. Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation PE1 1 +NX_Q6PI73 Leukocyte immunoglobulin-like receptor subfamily A member 6 481 52399 7.67 1 Membrane NA May act as receptor for class I MHC antigens. NA NA Osteoclast differentiation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_Q6PI77 Protein BHLHb9 547 60291 7.51 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA May play a role in the control of cellular aging and survival. NA Belongs to the GPRASP family. NA PE1 X +NX_Q6PI78 Transmembrane protein 65 240 25498 8.9 3 Nucleoplasm;Mitochondrion inner membrane;Cell membrane NA May play an important role in cardiac development and function. May regulate cardiac conduction and the function of the gap junction protein GJA1. May contribute to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication (By similarity). May also play a role in the regulation of mitochondrial respiration and mitochondrial DNA copy number maintenance (PubMed:28295037). NA NA NA PE1 8 +NX_Q6PI97 UPF0722 protein C11orf88 169 19340 8.9 0 NA NA NA NA Belongs to the UPF0722 family. NA PE1 11 +NX_Q6PI98 INO80 complex subunit C 192 20643 10.03 0 Nucleus;Nucleolus NA Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. NA NA DNA Damage Recognition in GG-NER;UCH proteinases PE1 18 +NX_Q6PID6 Tetratricopeptide repeat protein 33 262 29411 5.32 0 Golgi apparatus;Nucleoplasm;Cytoplasmic vesicle NA NA NA NA NA PE1 5 +NX_Q6PID8 Kelch domain-containing protein 10 442 49098 9.47 0 Cytoplasm;Nucleoplasm;Nucleus NA Participates in the oxidative stress-induced cell death through MAP3K5 activation. Inhibits PPP5C phosphatase activity on MAP3K5. NA NA NA PE1 7 +NX_Q6PIF2 Synaptonemal complex central element protein 2 218 24690 5.57 0 Nucleoplasm;Nucleus NA Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Requires SYCP1 in order to be incorporated into the central element. May have a role in the synaptonemal complex assembly, stabilization and recombination (By similarity). NA Belongs to the SYCE family. Meiotic synapsis PE1 19 +NX_Q6PIF6 Unconventional myosin-VIIb 2116 241599 8.82 0 Microvillus;Cytoskeleton NA Myosins are actin-based motor molecules with ATPase activity. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. May link the complex to the actin core bundle of microvilli (Probable). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. NA PE1 2 +NX_Q6PII3 Coiled-coil domain-containing protein 174 467 53958 6.04 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Hypotonia, infantile, with psychomotor retardation Probably involved in neuronal development. NA NA NA PE1 3 +NX_Q6PII5 Hydroxyacylglutathione hydrolase-like protein 290 31557 8.57 0 NA NA Hydrolase acting on ester bonds. NA Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family. Pyruvate metabolism PE1 16 +NX_Q6PIJ6 F-box only protein 38 1188 133944 5.92 0 Cell membrane;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton Neuronopathy, distal hereditary motor, 2D Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of PDCD1/PD-1, thereby regulating T-cells-mediated immunity (PubMed:30487606). Required for anti-tumor activity of T-cells by promoting the degradation of PDCD1/PD-1; the PDCD1-mediated inhibitory pathway being exploited by tumors to attenuate anti-tumor immunity and facilitate tumor survival (PubMed:30487606). May indirectly stimulate the activity of transcription factor KLF7, a regulator of neuronal differentiation, without promoting KLF7 ubiquitination (By similarity). NA NA Protein modification; protein ubiquitination. PE1 5 +NX_Q6PIL6 Kv channel-interacting protein 4 250 28729 5.12 0 Endoplasmic reticulum;Cytoplasm;Cell membrane NA Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates KCND2 channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner (PubMed:11847232, PubMed:18957440, PubMed:23576435). Modulates KCND3/Kv4.3 currents (PubMed:23576435).;Does not increase KCND2 expression at the cell membrane (PubMed:18957440).;Retains KCND3 in the endoplasmic reticulum and negatively regulates its expression at the cell membrane. NA Belongs to the recoverin family. Phase 1 - inactivation of fast Na+ channels PE1 4 +NX_Q6PIS1 Solute carrier family 23 member 3 610 64531 7.24 12 Membrane;Nucleoplasm;Cell junction NA NA NA Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily. NA PE2 2 +NX_Q6PIU1 Potassium voltage-gated channel subfamily V member 1 500 56304 5.75 6 Cell membrane NA Potassium channel subunit that does not form functional channels by itself. Modulates KCNB1 and KCNB2 channel activity by shifting the threshold for inactivation to more negative values and by slowing the rate of inactivation. Can down-regulate the channel activity of KCNB1, KCNB2, KCNC4 and KCND1, possibly by trapping them in intracellular membranes. NA Belongs to the potassium channel family. V (TC 1.A.1.2) subfamily. Kv8.1/KCNV1 sub-subfamily. Voltage gated Potassium channels PE1 8 +NX_Q6PIU2 Neutral cholesterol ester hydrolase 1 408 45808 6.76 1 Membrane;Endoplasmic reticulum;Microsome NA Hydrolyzes 2-acetyl monoalkylglycerol ether, the penultimate precursor of the pathway for de novo synthesis of platelet-activating factor. May be responsible for cholesterol ester hydrolysis in macrophages, thereby contributing to the development of atherosclerosis. Also involved in organ detoxification by hydrolyzing exogenous organophosphorus compounds. May contribute to cancer pathogenesis by promoting tumor cell migration. N-glycosylated. Belongs to the 'GDXG' lipolytic enzyme family. Bile secretion;LDL clearance PE1 3 +NX_Q6PIV2 Forkhead box protein R1 292 33310 9.3 0 Nucleus NA NA NA NA NA PE1 11 +NX_Q6PIV7 Solute carrier family 25 member 34 304 32224 9.28 6 Mitochondrion inner membrane;Mitochondrion NA NA NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE2 1 +NX_Q6PIW4 Fidgetin-like protein 1 674 74077 8.07 0 Cytoplasm;Perinuclear region;Nucleus NA Involved in DNA double-strand break (DBS) repair via homologous recombination (HR). Recruited at DSB sites independently of BRCA2, RAD51 and RAD51 paralogs in a H2AX-dependent manner. May regulate osteoblast proliferation and differentiation (PubMed:23754376). May play a role in the control of male meiosis dynamic (By similarity). NA Belongs to the AAA ATPase family. NA PE1 7 +NX_Q6PIY5 Armadillo-like helical domain containing protein 1 440 48855 5.56 0 Cytosol NA NA NA NA NA PE1 1 +NX_Q6PIY7 Poly(A) RNA polymerase GLD2 484 56028 9.45 0 Cytoplasm;Cytosol;Nucleus NA Cytoplasmic poly(A) RNA polymerase that adds successive AMP monomers to the 3'-end of specific RNAs, forming a poly(A) tail. In contrast to the canonical nuclear poly(A) RNA polymerase, it only adds poly(A) to selected cytoplasmic mRNAs (PubMed:15070731). Does not play a role in replication-dependent histone mRNA degradation (PubMed:18172165). Adds a single nucleotide to the 3' end of specific miRNAs, monoadenylation stabilizes and prolongs the activity of some but not all miRNAs (PubMed:23200856). NA Belongs to the DNA polymerase type-B-like family. GLD2 subfamily. NA PE1 5 +NX_Q6PIZ9 T-cell receptor-associated transmembrane adapter 1 186 21211 5.23 1 Cell membrane NA Stabilizes the TCR (T-cell antigen receptor)/CD3 complex at the surface of T-cells. Phosphorylated on tyrosines by LCK or FYN upon TCR activation. NA Downstream TCR signaling;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 3 +NX_Q6PJ21 SPRY domain-containing SOCS box protein 3 355 39376 8.74 0 Mitochondrion NA May be a substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the SPSB family. Protein modification; protein ubiquitination.;Neddylation PE1 16 +NX_Q6PJ61 F-box only protein 46 603 64631 7.19 0 Nucleoplasm;Cytosol;Cytoplasmic vesicle NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA NA NA PE1 19 +NX_Q6PJ69 Tripartite motif-containing protein 65 517 57353 6.26 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol NA NA NA Belongs to the TRIM/RBCC family. NA PE1 17 +NX_Q6PJE2 POM121 and ZP3 fusion protein 187 20620 6.81 0 NA NA NA NA NA NA PE2 7 +NX_Q6PJF5 Inactive rhomboid protein 2 856 96686 9.1 7 Endoplasmic reticulum membrane;Cell membrane Tylosis with esophageal cancer Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own. NA Belongs to the peptidase S54 family. NA PE1 17 +NX_Q6PJG2 ELM2 and SANT domain-containing protein 1 1045 114989 9.26 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 14 +NX_Q6PJG6 BRCA1-associated ATM activator 1 821 88119 5.11 0 Cytoplasm;Nucleoplasm;Nucleus Rigidity and multifocal seizure syndrome, lethal neonatal;Neurodevelopmental disorder with cerebellar atrophy and with or without seizures Involved in DNA damage response; activates kinases ATM, SMC1A and PRKDC by modulating their phosphorylation status following ionizing radiation (IR) stress (PubMed:16452482, PubMed:22977523). Plays a role in regulating mitochondrial function and cell proliferation (PubMed:25070371). Required for protein stability of MTOR and MTOR-related proteins, and cell cycle progress by growth factors (PubMed:25657994). Ubiquitinated by NEDD4, NEDD4L and ITCH; mono- and polyubiquitinated forms are detected. NA NA PE1 7 +NX_Q6PJG9 Leucine-rich repeat and fibronectin type-III domain-containing protein 4 635 66860 6.44 1 Membrane NA Promotes neurite outgrowth in hippocampal neurons. May play a role in redistributing DLG4 to the cell periphery (By similarity). Glycosylated. Belongs to the LRFN family. Synaptic adhesion-like molecules PE1 11 +NX_Q6PJI9 GATOR complex protein WDR59 974 109793 8.2 0 Cytosol;Lysosome membrane NA As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:25457612, PubMed:27487210). NA Belongs to the WD repeat WDR59 family. NA PE1 16 +NX_Q6PJP8 DNA cross-link repair 1A protein 1040 116400 8.24 0 Nucleoplasm;Nucleus;Nucleolus NA May be required for DNA interstrand cross-link repair. Also required for checkpoint mediated cell cycle arrest in early prophase in response to mitotic spindle poisons. NA Belongs to the DNA repair metallo-beta-lactamase (DRMBL) family. Fanconi Anemia Pathway PE1 10 +NX_Q6PJQ5 Forkhead box protein R2 311 35924 4.92 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 X +NX_Q6PJT7 Zinc finger CCCH domain-containing protein 14 736 82876 6.99 0 Cytoplasm;Nucleus speckle;Nucleolus Mental retardation, autosomal recessive 56 Involved in poly(A) tail length control in neuronal cells. Binds the polyadenosine RNA oligonucleotides. NA Belongs to the ZC3H14 family. NA PE1 14 +NX_Q6PJW8 Consortin 725 79597 4.4 1 Cytoplasmic vesicle;trans-Golgi network membrane;Secretory vesicle;Cell membrane NA Required for targeting of connexins to the plasma membrane. NA Belongs to the CNST family. NA PE1 1 +NX_Q6PK04 Coiled-coil domain-containing protein 137 289 33231 10.94 0 Nucleolus;Chromosome NA NA NA NA NA PE1 17 +NX_Q6PK18 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3 319 35646 8.3 1 Membrane;Nucleoplasm NA NA NA Belongs to the OGFOD3 family. NA PE1 17 +NX_Q6PK57 Putative GED domain-containing protein DNM1P34 102 11596 4.82 0 NA NA NA NA NA NA PE5 15 +NX_Q6PK81 Zinc finger protein 773 442 50502 9.18 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q6PKC3 Thioredoxin domain-containing protein 11 985 110529 6.11 1 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA May act as a redox regulator involved in DUOX proteins folding. The interaction with DUOX1 and DUOX2 suggest that it belongs to a multiprotein complex constituting the thyroid H(2)O(2) generating system. It is however not sufficient to assist DUOX1 and DUOX2 in H(2)O(2) generation. NA Belongs to the protein disulfide isomerase family. NA PE1 16 +NX_Q6PKG0 La-related protein 1 1096 123510 8.91 0 Cytoplasm;Endoplasmic reticulum;Nucleoplasm;Cytosol;Cytoplasmic granule NA (Microbial infection) Positively regulates the replication of dengue virus (DENV).;RNA-binding protein that regulates the translation of specific target mRNA species downstream of the mTORC1 complex, in function of growth signals and nutrient availability (PubMed:20430826, PubMed:23711370, PubMed:24532714, PubMed:25940091, PubMed:28650797, PubMed:28673543, PubMed:29244122). Interacts on the one hand with the 3' poly-A tails that are present in all mRNA molecules, and on the other hand with the 7-methylguanosine cap structure of mRNAs containing a 5' terminal oligopyrimidine (5'TOP) motif, which is present in mRNAs encoding ribosomal proteins and several components of the translation machinery (PubMed:23711370, PubMed:25940091, PubMed:28650797, PubMed:29244122, PubMed:26206669, PubMed:28379136). The interaction with the 5' end of mRNAs containing a 5'TOP motif leads to translational repression by preventing the binding of EIF4G1 (PubMed:25940091, PubMed:28650797, PubMed:29244122, PubMed:28379136). When mTORC1 is activated, LARP1 is phosphorylated and dissociates from the 5' untranslated region (UTR) of mRNA (PubMed:25940091, PubMed:28650797). Does not prevent binding of EIF4G1 to mRNAs that lack a 5'TOP motif (PubMed:28379136). Interacts with the free 40S ribosome subunit and with ribosomes, both monosomes and polysomes (PubMed:20430826, PubMed:24532714, PubMed:25940091, PubMed:28673543). Under normal nutrient availability, interacts primarily with the 3' untranslated region (UTR) of mRNAs encoding ribosomal proteins and increases protein synthesis (PubMed:23711370, PubMed:28650797). Associates with actively translating ribosomes and stimulates translation of mRNAs containing a 5'TOP motif, thereby regulating protein synthesis, and as a consequence, cell growth and proliferation (PubMed:20430826, PubMed:24532714). Stabilizes mRNAs species with a 5'TOP motif, which is required to prevent apoptosis (PubMed:20430826, PubMed:23711370, PubMed:25940091, PubMed:28673543). Phosphorylated on multiple Ser and Thr residues in response to active mTORC1. Phosphorylation is important for interaction with RPTOR and the mTORC1 complex. Phosphorylation promotes dissociation from the 5'UTR of mRNA molecules with a 5'TOP motif. Belongs to the LARP family. NA PE1 5 +NX_Q6PKH6 Dehydrogenase/reductase SDR family member 4-like 2 230 24586 10.13 0 Secreted NA Probable oxidoreductase. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. NA PE1 14 +NX_Q6PKX4 Docking protein 6 331 38318 8.72 0 Cytosol;Focal adhesion NA DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK6 promotes Ret-mediated neurite growth. May have a role in brain development and/or maintenance. On Ret activation, phosphorylated on one or more C-terminal tyrosine residues by an Src family kinase. Belongs to the DOK family. Type B subfamily. RET signaling PE1 18 +NX_Q6PL18 ATPase family AAA domain-containing protein 2 1390 158554 5.94 0 Nucleoplasm;Nucleus NA May be a transcriptional coactivator of the nuclear receptor ESR1 required to induce the expression of a subset of estradiol target genes, such as CCND1, MYC and E2F1. May play a role in the recruitment or occupancy of CREBBP at some ESR1 target gene promoters. May be required for histone hyperacetylation. Involved in the estrogen-induced cell proliferation and cell cycle progression of breast cancer cells. NA Belongs to the AAA ATPase family. TFAP2 (AP-2) family regulates transcription of growth factors and their receptors PE1 8 +NX_Q6PL24 Protein TMED8 325 35740 4.61 0 NA NA NA NA NA NA PE1 14 +NX_Q6PL45 BRICHOS domain-containing protein 5 260 28486 6.98 2 Membrane;Nucleoplasm;Cytoskeleton NA NA NA NA NA PE1 16 +NX_Q6PML9 Zinc transporter 9 568 63515 8.6 5 Cytoplasm;Membrane;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleus Birk-Landau-Perez syndrome Acts as a zinc transporter involved in intracellular zinc homeostasis (PubMed:28334855). Functions as a secondary coactivator for nuclear receptors by cooperating with p160 coactivators subtypes. Plays a role in transcriptional activation of Wnt-responsive genes (By similarity). NA Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. NA PE1 4 +NX_Q6PP77 XK-related protein 2 449 52052 8.46 10 Cell membrane NA NA NA Belongs to the XK family. NA PE2 X +NX_Q6PRD1 Probable G-protein coupled receptor 179 2367 257363 5.54 7 Cell membrane Night blindness, congenital stationary, 1E Orphan receptor, involved in vision. Required for signal transduction through retinal depolarizing bipolar cells. NA Belongs to the G-protein coupled receptor 3 family. NA PE1 17 +NX_Q6PRD7 Cementoblastoma-derived protein 1 247 25959 9.73 0 Nucleoplasm;Cytoplasm;Nucleus NA May play a role in development of the periodontium which surrounds and supports the teeth by promoting the differentiation of multi-potent cells from the periodontal ligament into cementoblasts to form the cementum (PubMed:21929512, PubMed:17509525, PubMed:21465469). Binds hydroxyapatite and may promote the biomineralization of the cementum (PubMed:19393626). Also promotes cell proliferation (PubMed:17509525, PubMed:21929512, PubMed:26011628). N-glycosylated.;Phosphorylated. NA NA PE1 16 +NX_Q6PUV4 Complexin-2 134 15394 5.06 0 Presynapse;Perikaryon;Nucleus;Cytosol NA Negatively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles. Also involved in mast cell exocytosis (By similarity). NA Belongs to the complexin/synaphin family. Synaptic vesicle cycle PE1 5 +NX_Q6PXP3 Solute carrier family 2, facilitated glucose transporter member 7 512 55728 8.68 12 Cell membrane NA Probable sugar transporter (PubMed:28083649). Its physiological substrate is subject to discussion (PubMed:16186102, PubMed:28083649). Does not transport galactose, 2-deoxy-d-glucose and xylose (PubMed:15033637). NA Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. Cellular hexose transport PE1 1 +NX_Q6Q0C0 E3 ubiquitin-protein ligase TRAF7 670 74609 6.77 0 Cytoplasmic vesicle;Cell membrane Cardiac, facial, and digital anomalies with developmental delay E3 ubiquitin ligase capable of auto-ubiquitination, following phosphorylation by MAP3K3. Potentiates MAP3K3-mediated activation of the NF-kappa-B, JUN/AP1 and DDIT3 transcriptional regulators (PubMed:14743216). Induces apoptosis when overexpressed (PubMed:15001576). Plays a role in the phosphorylation of MAPK1 and/or MAPK3, probably via its interaction with MAP3K3. Phosphorylated by MAP3K3.;Ubiquitinates itself upon phosphorylation. Belongs to the WD repeat TRAF7 family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 16 +NX_Q6Q0C1 Solute carrier family 25 member 47 308 33435 9.39 6 Mitochondrion inner membrane NA Uncoupling protein which may catalyze the physiological 'proton leak' in liver. Overexpression induces the dissipation of mitochondrial membrane potential. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE2 14 +NX_Q6Q4G3 Aminopeptidase Q 990 113283 5.42 1 Membrane NA Metalloprotease which may be important for placentation by regulating biological activity of key peptides at the embryo-maternal interface. On synthetic substrates it shows a marked preference for Leu-4-methylcoumaryl-7-amide (Leu-MCA) over Met-MCA, Arg-LCA and Lys-LCA. Cleaves the N-terminal amino acid of several peptides such as angiotensin-3, kisspeptin-10 and endokinin C. N-glycosylated. Belongs to the peptidase M1 family. NA PE1 5 +NX_Q6Q6R5 Cysteine-rich protein 3 217 24088 8.98 0 Cytoplasm;Nucleus speckle NA NA NA NA NA PE1 6 +NX_Q6Q759 Sperm-associated antigen 17 2223 251742 5.88 0 Cytoplasm;Flagellum axoneme NA Component of the central pair apparatus of ciliary axonemes. Plays a critical role in the function and structure of motile cilia. May play a role in endochondral bone formation, most likely because of a function in primary cilia of chondrocytes and osteoblasts. NA NA NA PE1 1 +NX_Q6Q788 Apolipoprotein A-V 366 41213 5.98 0 trans-Golgi network;Early endosome;Secreted;Late endosome Hypertriglyceridemia, familial;Hyperlipoproteinemia 5 Minor apolipoprotein mainly associated with HDL and to a lesser extent with VLDL. May also be associated with chylomicrons. Important determinant of plasma triglyceride (TG) levels by both being a potent stimulator of apo-CII lipoprotein lipase (LPL) TG hydrolysis and an inhibitor of the hepatic VLDL-TG production rate (without affecting the VLDL-apoB production rate) (By similarity). Activates poorly lecithin:cholesterol acyltransferase (LCAT) and does not enhance efflux of cholesterol from macrophages. Binds heparin (PubMed:17326667). Phosphorylated by FAM20C in the extracellular medium. Belongs to the apolipoprotein A1/A4/E family. PPAR signaling pathway;PPARA activates gene expression;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation;Assembly of active LPL and LIPC lipase complexes;Chylomicron remodeling PE1 11 +NX_Q6Q795 Putative viral protein-binding protein C1 121 13358 8.84 0 NA NA NA NA NA NA PE5 3 +NX_Q6Q8B3 Cell surface glycoprotein CD200 receptor 2 271 29920 9.31 1 Membrane NA May be a receptor for the CD200/OX2 cell surface glycoprotein. NA Belongs to the CD200R family. NA PE2 3 +NX_Q6QAJ8 Transmembrane protein 220 160 17754 6.95 5 Membrane;Nucleoplasm NA NA NA NA NA PE2 17 +NX_Q6QEF8 Coronin-6 472 52762 5.63 0 Golgi apparatus NA NA NA NA NA PE1 17 +NX_Q6QHC5 Sphingolipid delta(4)-desaturase/C4-monooxygenase DES2 323 37197 9.38 3 Nucleoplasm;Endoplasmic reticulum membrane;Nucleolus NA Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-monooxygenase. NA Belongs to the fatty acid desaturase type 1 family. DEGS subfamily. Membrane lipid metabolism; sphingolipid biosynthesis.;Sphingolipid metabolism;Metabolic pathways;Sphingolipid de novo biosynthesis PE1 14 +NX_Q6QHF9 Peroxisomal N(1)-acetyl-spermine/spermidine oxidase 649 70290 5.34 0 Peroxisome;Nucleoplasm;Cytoplasm;Centrosome NA Flavoenzyme which catalyzes the oxidation of N(1)-acetylspermine to spermidine and is thus involved in the polyamine back-conversion (PubMed:12477380). Can also oxidize N(1)-acetylspermidine to putrescine. Substrate specificity: N(1)-acetylspermine = N(1)-acetylspermidine > N(1),N(12)-diacylspermine >> spermine. Does not oxidize spermidine. Plays an important role in the regulation of polyamine intracellular concentration and has the potential to act as a determinant of cellular sensitivity to the antitumor polyamine analogs (PubMed:12477380). NA Belongs to the flavin monoamine oxidase family. Amine and polyamine metabolism; spermine metabolism.;Peroxisome;PAOs oxidise polyamines to amines;Interconversion of polyamines;Peroxisomal protein import PE1 10 +NX_Q6QHK4 Factor in the germline alpha 219 24123 7.76 0 Nucleus Premature ovarian failure 6 Germline specific transcription factor implicated in postnatal oocyte-specific gene expression. Plays a key regulatory role in the expression of multiple oocyte-specific genes, including those that initiate folliculogenesis and those that encode the zona pellucida (ZP1, ZP2 and ZP3) required for fertilization and early embryonic survival. Essential for oocytes to survive and form primordial follicles. The persistence of FIGLA in adult females suggests that it may regulate additional pathways that are essential for normal ovarian development. Binds to the E-box (5'-CANNTG-3') of the ZPs (ZP1, ZP2, ZP3) promoters. NA NA NA PE1 2 +NX_Q6QN14 Ubiquitin carboxyl-terminal hydrolase 17-like protein 6 398 44690 6.86 0 Cytoplasm;Nucleus NA Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, cell migration, and the cellular response to viral infection. Seems to be non-functional in the regulation of apoptosis. NA Belongs to the peptidase C19 family. USP17 subfamily. NA PE1 4 +NX_Q6QNK2 Adhesion G-protein coupled receptor D1 874 96530 8.02 7 Nucleoplasm;Cytosol;Cell membrane NA Orphan receptor. Signals via G(s)-alpha family of G-proteins (PubMed:22025619, PubMed:22575658). Has protumorigenic function especially in glioblastoma (PubMed:27775701). NA Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE1 12 +NX_Q6QNY0 Biogenesis of lysosome-related organelles complex 1 subunit 3 202 21256 5.08 0 Golgi apparatus;Cytoplasm Hermansky-Pudlak syndrome 8 Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking. NA Belongs to the BLOC1S3 family. Golgi Associated Vesicle Biogenesis PE1 19 +NX_Q6QNY1 Biogenesis of lysosome-related organelles complex 1 subunit 2 142 15961 4.78 0 Lysosome membrane;Centrosome NA Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes (PubMed:15102850, PubMed:17182842). In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension (By similarity). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). May play a role in cell proliferation (PubMed:15381421). NA Belongs to the BLOC1S2 family. NA PE1 10 +NX_Q6R2W3 SCAN domain-containing protein 3 1325 151666 6.29 0 Golgi apparatus;Nucleoplasm;Nucleolus NA NA NA NA NA PE1 6 +NX_Q6R327 Rapamycin-insensitive companion of mTOR 1708 192218 7.22 0 Mitochondrion NA Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. MTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. MTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. MTORC2 promotes the serum-induced formation of stress-fibers or F-actin. MTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDK1 which is a prerequisite for full activation. MTORC2 regulates the phosphorylation of SGK1 at 'Ser-422'. MTORC2 also modulates the phosphorylation of PRKCA on 'Ser-657'. Plays an essential role in embryonic growth and development. Phosphorylated by MTOR; when part of mTORC2. Phosphorylated at Thr-1135 by RPS6KB1; phosphorylation of RICTOR inhibits mTORC2 and AKT1 signaling. Belongs to the RICTOR family. mTOR signaling pathway;PIP3 activates AKT signaling;VEGFR2 mediated vascular permeability;CD28 dependent PI3K/Akt signaling;Constitutive Signaling by AKT1 E17K in Cancer;Regulation of TP53 Degradation PE1 5 +NX_Q6R6M4 Ubiquitin carboxyl-terminal hydrolase 17 530 59619 8.5 0 Endoplasmic reticulum;Nucleus NA Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes. Regulates cell proliferation by deubiquitinating and inhibiting RCE1 thereby controlling the small GTPases NRAS and HRAS localization and activation. In parallel, mediates deubiquitination of CDC25A, preventing CDC25A degradation by the proteasome during the G1/S and G2/M phases promoting cell-cycle progression. Also regulates cell proliferation and apoptosis through deubiquitination of SUDS3 a regulator of histone deacetylation. Through activation of the Rho family GTPases RAC1A, CDC42 and RHOA, regulates cell migration. Through the cleavage of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains of the cytoplasmic innate immune receptors DDX58 and IFIH1 stimulates the cellular response to viral infection. NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE1 8 +NX_Q6RFH5 WD repeat-containing protein 74 385 42441 8.64 0 Nucleoplasm;Nucleus;Nucleolus NA Regulatory protein of the MTREX-exosome complex involved in the synthesis of the 60S ribosomal subunit (PubMed:26456651). Participates in an early cleavage of the pre-rRNA processing pathway in cooperation with NVL (PubMed:29107693). Required for blastocyst formation, is necessary for RNA transcription, processing and/or stability during preimplantation development (By similarity). NA NA NA PE1 11 +NX_Q6RFH8 Double homeobox protein 4C 374 39442 11.11 0 Nucleus NA May be involved in transcriptional regulation (By similarity). Down-regulates MYOD1 expression and may up-regulate MYF5 expression. May regulate microRNA (miRNA) transcription, upregulating the expression of some myogenic miRNAs, including MIR1-1, MIR133A2, MIR133B and MIR206. Impairs the differentiation of myoblasts and may be involved in muscle regeneration. NA NA NA PE1 4 +NX_Q6RI45 Bromodomain and WD repeat-containing protein 3 1802 203598 8.02 0 Nucleoplasm;Cytosol Mental retardation, X-linked 93 Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. NA NA NA PE1 X +NX_Q6RSH7 von Hippel-Lindau-like protein 139 15781 6.41 0 NA NA Functions as a dominant-negative VHL to serve as a protector of HIFalpha. NA Belongs to the VHL family. NA PE1 1 +NX_Q6RUI8 Uncharacterized protein C19orf48 117 13085 8.49 0 Cell membrane NA NA NA NA NA PE2 19 +NX_Q6RVD6 Spermatogenesis-associated protein 8 105 11727 10.09 0 NA NA NA NA NA NA PE1 15 +NX_Q6RW13 Type-1 angiotensin II receptor-associated protein 159 17419 5.71 3 Cytoplasmic vesicle membrane;Golgi apparatus membrane;Endoplasmic reticulum membrane;Cytoplasmic vesicle NA Appears to be a negative regulator of type-1 angiotensin II receptor-mediated signaling by regulating receptor internalisation as well as mechanism of receptor desensitization such as phosphorylation. Induces also a decrease in cell proliferation and angiotensin II-stimulated transcriptional activity. NA NA Signaling by BRAF and RAF fusions PE1 1 +NX_Q6S545 POTE ankyrin domain family member H 545 60965 7 0 NA NA NA NA Belongs to the POTE family. NA PE1 22 +NX_Q6S5H5 POTE ankyrin domain family member G 508 57096 6.66 0 NA NA NA NA Belongs to the POTE family. NA PE2 14 +NX_Q6S5L8 SHC-transforming protein 4 630 68785 8.03 0 Cytosol;Postsynaptic cell membrane NA Activates both Ras-dependent and Ras-independent migratory pathways in melanomas. Contributes to the early phases of agrin-induced tyrosine phosphorylation of CHRNB1. Phosphorylated; the phosphorylation is enhanced by EGF. Phosphorylation at Tyr-424 is required for the interaction with GRB2. NA ErbB signaling pathway;Chemokine signaling pathway;Focal adhesion;Natural killer cell mediated cytotoxicity;Neurotrophin signaling pathway;Insulin signaling pathway;Bacterial invasion of epithelial cells;Glioma;Chronic myeloid leukemia PE1 15 +NX_Q6S8J3 POTE ankyrin domain family member E 1075 121363 5.83 0 NA NA NA NA In the N-terminal section; belongs to the POTE family.;In the C-terminal section; belongs to the actin family. NA PE1 2 +NX_Q6S8J7 POTE ankyrin domain family member A 498 56166 6.01 0 NA NA NA NA Belongs to the POTE family. NA PE2 8 +NX_Q6S9Z5 Zinc finger protein 474 364 40315 9.59 0 NA NA NA NA NA NA PE1 5 +NX_Q6SA08 Testis-specific serine/threonine-protein kinase 4 328 37454 8.78 0 Cell junction;Acrosome;Flagellum NA Serine/threonine kinase which is involved in male germ cell development and in mature sperm function (By similarity). May be involved in the Cre/Creb signaling pathway (By similarity). Phosphorylates CREB1 on 'Ser-133' in vitro and can stimulate Cre/Creb pathway in cells (PubMed:15964553). Phosphorylates CREM on 'Ser-116' in vitro (By similarity). Phosphorylates ODF2 on 'Ser-95' (By similarity). Ubiquitinated; HSP90 activity negatively regulates ubiquitination and degradation.;Activated by autophosphorylation on Thr-197. ODF2 potentiates the autophosphorylation activity of TSSK4 at Thr-197. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. NA PE1 14 +NX_Q6SJ93 Protein FAM111B 734 84674 8.83 0 Nucleoplasm;Cytosol Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis NA NA Belongs to the FAM111 family. NA PE1 11 +NX_Q6SJ96 TATA box-binding protein-like protein 2 375 41524 6.05 0 Cytoplasm;Nucleus NA Transcription factor required in complex with TAF3 for the differentiation of myoblasts into myocytes. The complex replaces TFIID at specific promoters at an early stage in the differentiation process (By similarity). NA Belongs to the TBP family. Basal transcription factors;Huntington's disease;HTLV-I infection;Herpes simplex infection PE1 14 +NX_Q6SPF0 Atherin 538 56052 7.13 0 Cytoplasm;Cytosol;Mitochondrion;Secreted NA May play a role in atherogenesis by immobilizing LDL in the atherial wall. NA NA NA PE1 19 +NX_Q6STE5 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 483 55016 9.38 0 Nucleoplasm;Nucleus NA Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Stimulates nuclear receptor mediated transcription. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). NA Belongs to the SMARCD family. RMTs methylate histone arginines;PPARA activates gene expression;RORA activates gene expression;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;Activation of gene expression by SREBF (SREBP);Transcriptional regulation of white adipocyte differentiation;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 7 +NX_Q6SZW1 Sterile alpha and TIR motif-containing protein 1 724 79388 6.14 0 Cytoplasm;Mitochondrion;Synapse;Cytoplasmic vesicle;Axon;Dendrite NA Negative regulator of MYD88- and TRIF-dependent toll-like receptor signaling pathway which plays a pivotal role in activating axonal degeneration following injury. Promotes Wallerian degeneration an injury-induced axonal death pathway which involves degeneration of an axon distal to the injury site. Can activate neuronal death in response to stress. Regulates dendritic arborization through the MAPK4-JNK pathway. Involved in innate immune response. Inhibits both TICAM1/TRIF- and MYD88-dependent activation of JUN/AP-1, TRIF-dependent activation of NF-kappa-B and IRF3, and the phosphorylation of MAPK14/p38. NA NA Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;MyD88-independent TLR4 cascade;IKK complex recruitment mediated by RIP1;TRAF6-mediated induction of TAK1 complex within TLR4 complex;Toll Like Receptor 3 (TLR3) Cascade PE1 17 +NX_Q6T310 Ras-like protein family member 11A 242 27006 9.05 0 Nucleus;Nucleolus NA Regulator of rDNA transcription. Acts in cooperation UBF/UBTF and positively regulates RNA polymerase I transcription (By similarity). NA Belongs to the small GTPase superfamily. Ras family. NA PE1 13 +NX_Q6T311 ADP-ribosylation factor-like protein 9 187 20755 6.04 0 Mitochondrion;Nucleolus NA NA NA Belongs to the small GTPase superfamily. Arf family. NA PE1 4 +NX_Q6T423 Solute carrier family 22 member 25 547 61008 7.53 12 Membrane NA NA NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. NA PE2 11 +NX_Q6T4P5 Phospholipid phosphatase-related protein type 3 718 76037 5.66 6 Membrane;Golgi apparatus;Cytosol;Nucleoplasm NA NA NA Belongs to the PA-phosphatase related phosphoesterase family. Lysosphingolipid and LPA receptors PE1 19 +NX_Q6T4R5 Nance-Horan syndrome protein 1651 179135 6.4 0 Cytoplasm;Cell junction;Focal adhesion;Lamellipodium;Tight junction;Apical cell membrane Nance-Horan syndrome;Cataract 40 May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development. NA Belongs to the NHS family. NA PE1 X +NX_Q6TCH4 Membrane progestin receptor delta 344 37989 8.22 7 Nucleoplasm;Nucleolus;Cell membrane NA Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432, PubMed:23161870). Seems to act through a G(s) mediated pathway (PubMed:23161870). Involved in neurosteroid inhibition of apoptosis (PubMed:23161870). May be involved in regulating rapid P4 signaling in the nervous system (PubMed:23763432). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23763432, PubMed:23161870). NA Belongs to the ADIPOR family. NA PE1 1 +NX_Q6TCH7 Progestin and adipoQ receptor family member 3 311 36217 8.84 7 Golgi apparatus membrane NA Functions as a spatial regulator of RAF1 kinase by sequestrating it to the Golgi. NA Belongs to the ADIPOR family. Negative regulation of MAPK pathway PE1 4 +NX_Q6TDP4 Kelch-like protein 17 642 69874 7.64 0 Nucleoplasm;Nucleus;Postsynaptic density;Synapse NA Substrate-recognition component of some cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. The BCR(KLHL17) mediates the ubiquitination and subsequenct degradation of GLUR6. May play a role in the actin-based neuronal function (By similarity). NA NA Protein modification; protein ubiquitination. PE1 1 +NX_Q6TDU7 Protein CASC1 716 83160 5.22 0 NA NA NA NA Belongs to the CASC1 family. NA PE1 12 +NX_Q6TFL3 Coiled-coil domain-containing protein 171 1326 152810 6.37 0 Nucleoplasm;Nucleolus NA NA NA NA NA PE1 9 +NX_Q6TFL4 Kelch-like protein 24 600 68361 5.98 0 Cytoplasm;Desmosome;Perikaryon;Adherens junction;Axon Epidermolysis bullosa simplex, generalized, with scarring and hair loss Necessary to maintain the balance between intermediate filament stability and degradation, a process that is essential for skin integrity (PubMed:27889062). As part of the BCR(KLHL24) E3 ubiquitin ligase complex, mediates ubiquitination of KRT14 and controls its levels during keratinocytes differentiation (PubMed:27798626). Specifically reduces kainate receptor-mediated currents in hippocampal neurons, most probably by modulating channel properties (By similarity). Autoubiquitinated. Autoubiquitination leads to proteasomal degradation and is necessary to control KLHL24 levels. NA NA PE1 3 +NX_Q6TGC4 Protein-arginine deiminase type-6 694 77727 5.13 0 Cytoplasm;Nucleus Preimplantation embryonic lethality 2 Catalyzes the deimination of arginine residues of proteins (By similarity). May be involved in cytoskeletal reorganization in the egg and early embryo (PubMed:27545678). Phosphorylation at Ser-10, possibly by RSK-type kinases, and Ser-446 creates binding sites for 14-3-3 proteins. Belongs to the protein arginine deiminase family. Chromatin modifying enzymes PE1 1 +NX_Q6U736 Opsin-5 354 39727 9.11 7 Membrane NA NA It is uncertain whether Cys-315 or Cys-316 is palmitoylated. Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. G alpha (i) signalling events;Opsins PE1 6 +NX_Q6U7Q0 Zinc finger protein 322 402 46941 8.98 0 Cytoplasm;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Transcriptional activator (PubMed:15555580). Important for maintenance of pluripotency in embryonic stem cells (By similarity). Binds directly to the POU5F1 distal enhancer and the NANOG proximal promoter, and enhances expression of both genes (By similarity). Can also bind to numerous other gene promoters and regulates expression of many other pluripotency factors, either directly or indirectly (By similarity). Promotes inhibition of MAPK signaling during embryonic stem cell differentiation (By similarity). NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 6 +NX_Q6U841 Sodium-driven chloride bicarbonate exchanger 1118 125946 6.05 12 Basolateral cell membrane;Perikaryon;Postsynapse;Presynapse;Apical cell membrane;Axon;Dendrite NA Sodium/bicarbonate cotransporter which plays an important role in regulating intracellular pH (PubMed:10993873, PubMed:18319254). Has been shown to act as a sodium/bicarbonate cotransporter in exchange for intracellular chloride (By similarity). Has also been shown to act as a sodium/biocarbonate cotransporter which does not couple net influx of bicarbonate to net efflux of chloride, with the observed chloride efflux being due to chloride self-exchange (PubMed:18319254). Controls neuronal pH and may contribute to the secretion of cerebrospinal fluid (By similarity). Reduces the excitability of CA1 pyramidal neurons and modulates short-term synaptic plasticity (By similarity). Required in retinal cells to maintain normal pH which is necessary for normal vision (By similarity). In the kidney, likely to mediate bicarbonate reclamation in the apical membrane of the proximal tubules (By similarity). NA Belongs to the anion exchanger (TC 2.A.31) family. Bicarbonate transporters PE1 2 +NX_Q6U949 Putative insulin-like growth factor 2 antisense gene protein 168 18035 12.13 0 NA NA NA NA NA NA PE2 11 +NX_Q6UB28 Methionine aminopeptidase 1D, mitochondrial 335 37088 6.35 0 Cytoplasmic vesicle;Mitochondrion NA Removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met-Ala-, Cys, Gly, Pro, Ser, Thr, or Val). Requires deformylation of the N(alpha)-formylated initiator methionine before it can be hydrolyzed (By similarity). May play a role in colon tumorigenesis. NA Belongs to the peptidase M24A family. Methionine aminopeptidase type 1 subfamily. NA PE1 2 +NX_Q6UB35 Monofunctional C1-tetrahydrofolate synthase, mitochondrial 978 105790 8.32 0 Mitochondrion NA May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2. NA In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.;In the C-terminal section; belongs to the formate--tetrahydrofolate ligase family. One-carbon metabolism; tetrahydrofolate interconversion.;One carbon pool by folate;Metabolic pathways;Metabolism of folate and pterines PE1 6 +NX_Q6UB98 Ankyrin repeat domain-containing protein 12 2062 235652 6.57 0 Nucleoplasm;Cytosol;Nucleus NA May recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation. NA NA NA PE1 18 +NX_Q6UB99 Ankyrin repeat domain-containing protein 11 2663 297913 6.7 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane KBG syndrome Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells (By similarity). May recruit histone deacetylases (HDACs) to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation (PubMed:15184363). Has a role in proliferation and development of cortical neural precursors (PubMed:25556659). May also regulate bone homeostasis (By similarity). Subject to proteasomal degradation which is probably essential to regulate its activity. NA NA PE1 16 +NX_Q6UDR6 Kunitz-type protease inhibitor 4 99 11421 9.4 0 Secreted NA NA NA NA NA PE1 20 +NX_Q6UE05 Transmembrane protein 270 265 29433 7.67 3 Membrane;Cytoplasmic vesicle NA NA NA NA NA PE1 7 +NX_Q6ULP2 Aftiphilin 936 102113 4.4 0 Golgi apparatus;Cytosol;Cytoplasm;Cytoplasmic vesicle NA May play a role in membrane trafficking. NA NA NA PE1 2 +NX_Q6UN15 Pre-mRNA 3'-end-processing factor FIP1 594 66526 5.42 0 Nucleoplasm;Nucleus NA Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. FIP1L1 contributes to poly(A) site recognition and stimulates poly(A) addition. Binds to U-rich RNA sequence elements surrounding the poly(A) site. May act to tether poly(A) polymerase to the CPSF complex. NA Belongs to the FIP1 family. mRNA surveillance pathway;Transport of Mature mRNA Derived from an Intronless Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Processing of Intronless Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 4 +NX_Q6UQ28 Placenta-expressed transcript 1 protein 207 23385 5.01 0 Apical cell membrane NA Modulates leading keratinocyte migration and cellular adhesion to matrix proteins during a wound-healing response and promotes wound repair. May play a role during trichilemmal differentiation of the hair follicle (By similarity). N-glycosylated.;GPI-anchored. NA Post-translational modification: synthesis of GPI-anchored proteins PE2 11 +NX_Q6URK8 Testis, prostate and placenta-expressed protein 271 30717 9.09 0 Secreted NA NA NA NA NA PE1 16 +NX_Q6UUV7 CREB-regulated transcription coactivator 3 619 66959 6.35 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates the expression of specific CREB-activated genes such as the steroidogenic gene, StAR. Potent coactivator of PPARGC1A and inducer of mitochondrial biogenesis in muscle cells. Also coactivator for TAX activation of the human T-cell leukemia virus type 1 (HTLV-1) long terminal repeats (LTR). Phosphorylation/dephosphorylation states of Ser-273 are required for regulating transduction of CREB activity (By similarity). CRTCs/TORCs are inactive when phosphorylated, and active when dephosphorylated at this site (By similarity). May be phosphorylated at Ser-391 by MAPK3/ERK1 and/or MAPK1/ERK2 or by some cyclin-dependent kinases such as CDK1,CDK2 or CDK5 (PubMed:30611118). Following adenylyl cyclase activation, dephosphorylated at Ser-162 and Ser-273 resulting in its dissociation from 14-3-3 proteins probably promoting CRTC3 translocation into the nucleus (PubMed:30611118). Belongs to the TORC family. HTLV-I infection;Circadian Clock;Transcriptional activation of mitochondrial biogenesis PE1 15 +NX_Q6UUV9 CREB-regulated transcription coactivator 1 634 67300 5.65 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA (Microbial infection) Plays a role of coactivator for TAX activation of the human T-cell leukemia virus type 1 (HTLV-1) long terminal repeats (LTR).;Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates the expression of specific CREB-activated genes such as the steroidogenic gene, StAR. Potent coactivator of PGC1alpha and inducer of mitochondrial biogenesis in muscle cells. In the hippocampus, involved in late-phase long-term potentiation (L-LTP) maintenance at the Schaffer collateral-CA1 synapses. May be required for dendritic growth of developing cortical neurons (By similarity). In concert with SIK1, regulates the light-induced entrainment of the circadian clock. In response to light stimulus, coactivates the CREB-mediated transcription of PER1 which plays an important role in the photic entrainment of the circadian clock. Phosphorylation/dephosphorylation states of Ser-151 are required for regulating transduction of CREB activity. TORCs are inactive when phosphorylated, and active when dephosphorylated at this site. This primary site of phosphorylation is mediated by SIKs (SIK1 and SIK2), is regulated by cAMP and calcium levels and is dependent on the phosphorylation of SIKs by LKB1 (By similarity). Belongs to the TORC family. HTLV-I infection;Circadian Clock;Transcriptional activation of mitochondrial biogenesis PE1 19 +NX_Q6UVJ0 Spindle assembly abnormal protein 6 homolog 657 74397 7.26 0 Cytosol;Centriolar satellite;Centrosome;Centriole Microcephaly 14, primary, autosomal recessive Central scaffolding component of the centrioles ensuring their 9-fold symmetry. Required for centrosome biogenesis and duplication: required both for mother-centriole-dependent centriole duplication and deuterosome-dependent centriole amplification in multiciliated cells. Overexpression results in excess foci-bearing centriolar markers. Required for the recruitment of STIL to the procentriole and for STIL-mediated centriole amplification (PubMed:22020124). Ubiquitinated by the SCF(FBXW5) E3 ubiquitin-protein ligase complex during S phase, leading to its degradation and preventing centriole reduplication. NA NA PE1 1 +NX_Q6UVK1 Chondroitin sulfate proteoglycan 4 2322 250537 5.27 1 Cell membrane;Lamellipodium membrane;Cell surface;Nucleoplasm;Apical cell membrane NA Proteoglycan playing a role in cell proliferation and migration which stimulates endothelial cells motility during microvascular morphogenesis. May also inhibit neurite outgrowth and growth cone collapse during axon regeneration. Cell surface receptor for collagen alpha 2(VI) which may confer cells ability to migrate on that substrate. Binds through its extracellular N-terminus growth factors, extracellular matrix proteases modulating their activity. May regulate MPP16-dependent degradation and invasion of type I collagen participating in melanoma cells invasion properties. May modulate the plasminogen system by enhancing plasminogen activation and inhibiting angiostatin. Functions also as a signal transducing protein by binding through its cytoplasmic C-terminus scaffolding and signaling proteins. May promote retraction fiber formation and cell polarization through Rho GTPase activation. May stimulate alpha-4, beta-1 integrin-mediated adhesion and spreading by recruiting and activating a signaling cascade through CDC42, ACK1 and BCAR1. May activate FAK and ERK1/ERK2 signaling cascades. Phosphorylation by PRKCA regulates its subcellular location and function in cell motility.;O-glycosylated; contains glycosaminoglycan chondroitin sulfate which are required for proper localization and function in stress fiber formation (By similarity). Involved in interaction with MMP16 and ITGA4. NA Chondroitin sulfate biosynthesis;A tetrasaccharide linker sequence is required for GAG synthesis;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;Dermatan sulfate biosynthesis;CS/DS degradation;Defective CHST3 causes SEDCJD;Defective CHST14 causes EDS, musculocontractural type;Defective CHSY1 causes TPBS;Defective B3GALT6 causes EDSP2 and SEMDJL1 PE1 15 +NX_Q6UVM3 Potassium channel subfamily T member 2 1135 130501 6.97 6 Cytoplasmic vesicle;Cell membrane Epileptic encephalopathy, early infantile, 57 Outward rectifying potassium channel. Produces rapidly activating outward rectifier K(+) currents. Activated by high intracellular sodium and chloride levels (PubMed:14684870, PubMed:16687497, PubMed:29069600). Channel activity is inhibited by ATP and by inhalation anesthetics, such as isoflurane (PubMed:16687497) (By similarity). Inhibited upon stimulation of G-protein coupled receptors, such as CHRM1 and GRM1 (PubMed:16687497). Phosphorylated by protein kinase C. Phosphorylation of the C-terminal domain inhibits channel activity. Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa4.2/KCNT2 sub-subfamily. NA PE1 1 +NX_Q6UVW9 C-type lectin domain family 2 member A 174 19972 8.75 1 Cell membrane NA Plays a role in modulating the extent of T-cell expansion. Enhances the expansion of TCR-stimulated T-cells by increasing their survival through enhanced expression of anti-apoptotic proteins. May modulate the capacity of T-cells to home to lymph nodes through SELL. Facilitates dedicated immune recognition of keratinocytes via interaction with its receptor KLRF2 by stimulating natural killer cell mediated cytotoxicity. N-glycosylated. NA NA PE1 12 +NX_Q6UVY6 DBH-like monooxygenase protein 1 613 69652 5.97 1 Cytosol;Endoplasmic reticulum membrane NA NA N-glycosylated. Belongs to the copper type II ascorbate-dependent monooxygenase family. NA PE1 6 +NX_Q6UW01 Cerebellin-3 205 21521 6.58 0 Secreted;Endoplasmic reticulum;Nucleoplasm;Synapse;cis-Golgi network NA May be involved in synaptic functions in the CNS. NA NA NA PE1 14 +NX_Q6UW02 Cytochrome P450 20A1 462 52432 5.84 1 Cell membrane;Cell junction;Membrane;Nucleoplasm;Cytoskeleton NA NA NA Belongs to the cytochrome P450 family. NA PE1 2 +NX_Q6UW10 Surfactant-associated protein 2 78 8396 7.01 0 Golgi apparatus;Secreted;Secretory vesicle NA Putative surfactant protein. N-glycosylated. NA NA PE1 6 +NX_Q6UW15 Regenerating islet-derived protein 3-gamma 175 19330 6.7 0 Cytoplasm;Secreted NA Bactericidal C-type lectin which acts exclusively against Gram-positive bacteria and mediates bacterial killing by binding to surface-exposed carbohydrate moieties of peptidoglycan. Restricts bacterial colonization of the intestinal epithelial surface and consequently limits activation of adaptive immune responses by the microbiota. The uncleaved form has bacteriostatic activity, whereas the cleaved form has bactericidal activity against L.monocytogenes and methicillin-resistant S.aureus. Regulates keratinocyte proliferation and differentiation after skin injury. Proteolytic processing by trypsin removes an inhibitory N-terminal propeptide and is essential for peptidoglycan binding and antibacterial activity. NA Antimicrobial peptides PE1 2 +NX_Q6UW32 Insulin growth factor-like family member 1 110 12363 8.22 0 Secreted NA Probable ligand of the IGFLR1 cell membrane receptor. NA Belongs to the IGFL family. NA PE1 19 +NX_Q6UW49 Sperm equatorial segment protein 1 350 38931 5.53 0 Acrosome NA Involved in fertilization ability of sperm. Glycosylated. In testis there are two predominant forms of 77- and 67-kDa and a form of 47-kDa, whereas in epididymal sperm from caput, corpus, and cauda there are two forms of 47- and 43-kDa. Testis forms contain complex carbohydrate residues. Epididymal sperm forms are N-glycosylated. Then undergoes significant glycosylation in the testis and that the majority of these glycoconjugates are removed by the time sperm reach the caput epididymis. Belongs to the SPESP1 family. NA PE1 15 +NX_Q6UW56 All-trans retinoic acid-induced differentiation factor 229 24747 6.95 1 Nucleus envelope;Cell membrane NA Promotes osteoblast cell differentiation and terminal mineralization. Plays a role in inducing the cell cycle arrest via inhibiting CCND1 expression in all-trans-retinoic acid (ATRA) signal pathway. NA NA NA PE1 2 +NX_Q6UW60 Proprotein convertase subtilisin/kexin type 4 755 82795 8.67 1 Membrane;Acrosome membrane NA Proprotein convertase involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues (By similarity). In males, important for ADAM2 processing as well as other acrosomal proteins with roles in fertilization and critical for normal fertilization events such as sperm capacitation, acrosome reaction and binding of sperm to zona pellucida (By similarity). Plays also a role in female fertility, involved in the regulation of trophoblast migration and placental development, may be through the proteolytical processing and activation of proteins such as IGF2 (PubMed:16040806). May also participate in folliculogenesis in the ovaries (By similarity). N-glycosylated.;Synthesized in the endoplasmic reticulum as a zymogen, is matured by autocatalytic cleavage between the prodomain and the catalytic domain. Belongs to the peptidase S8 family. Furin subfamily. NA PE1 19 +NX_Q6UW63 Protein O-glucosyltransferase 2 502 58043 7.59 0 Nucleoplasm;Endoplasmic reticulum lumen NA Protein glucosyltransferase that catalyzes the transfer of glucose from UDP-glucose to a serine residue within the consensus sequence peptide C-X-N-T-X-G-S-F-X-C (PubMed:30127001). Can also catalyze the transfer of xylose from UDP-xylose but less efficiently (PubMed:30127001). Specifically targets extracellular EGF repeats of proteins such as NOTCH1 and NOTCH3 (PubMed:30127001). May regulate the transport of NOTCH1 and NOTCH3 to the plasma membrane and thereby the Notch signaling pathway (PubMed:30127001). N-glycosylated. Belongs to the KDELC family. Protein modification; protein glycosylation. PE1 13 +NX_Q6UW68 Transmembrane protein 205 189 21198 8.91 4 Membrane;Endoplasmic reticulum;Nucleoplasm;Nucleus membrane NA In cancer cells, plays a role in resistance to the chemotherapeutic agent cisplatin. NA Belongs to the TMEM205 family. NA PE1 19 +NX_Q6UW78 Ubiquinol-cytochrome-c reductase complex assembly factor 3 93 10081 9.39 1 Nucleoplasm;Cytosol;Mitochondrion inner membrane;Mitochondrion Mitochondrial complex III deficiency, nuclear 9 Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex), mediating cytochrome b recruitment and probably stabilization within the complex. Thereby, plays an important role in ATP production by mitochondria. Cardiolipin-binding protein, it may also control the cardiolipin composition of mitochondria membranes and their morphology. Probably cleaved by OMA1 under mitochondrial stress conditions. Belongs to the UQCC3 family. NA PE1 11 +NX_Q6UW88 Epigen 154 17091 6.5 1 Secreted;Membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA Promotes the growth of epithelial cells. May stimulate the phosphorylation of EGFR and mitogen-activated protein kinases. NA NA RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;EGFR downregulation;Signaling by EGFR;GAB1 signalosome;GRB2 events in EGFR signaling;SHC1 events in EGFR signaling;EGFR interacts with phospholipase C-gamma;Inhibition of Signaling by Overexpressed EGFR;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Extra-nuclear estrogen signaling;Estrogen-dependent nuclear events downstream of ESR-membrane signaling PE1 4 +NX_Q6UWB1 Interleukin-27 receptor subunit alpha 636 69474 5.48 1 Membrane;Cytoplasmic vesicle NA Receptor for IL27. Requires IL6ST/gp130 to mediate signal transduction in response to IL27. This signaling system acts through STAT3 and STAT1. Involved in the regulation of Th1-type immune responses. Also appears to be involved in innate defense mechanisms. NA Belongs to the type I cytokine receptor family. Type 2 subfamily. Interleukin-35 Signalling;Interleukin-27 signaling PE1 19 +NX_Q6UWB4 Serine protease 55 352 38856 7.49 1 Membrane;Cytosol NA Probable serine protease. NA Belongs to the peptidase S1 family. NA PE1 8 +NX_Q6UWD8 Transmembrane protein C16orf54 224 24360 5.97 1 Membrane NA NA O-glycosylated with core 1 or possibly core 8 glycans. NA NA PE1 16 +NX_Q6UWE0 E3 ubiquitin-protein ligase LRSAM1 723 83594 5.7 0 Cytoplasm;Cytosol Charcot-Marie-Tooth disease 2P E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos (PubMed:15256501). Bacterial recognition protein that defends the cytoplasm from invasive pathogens (PubMed:23245322). Localizes to several intracellular bacterial pathogens and generates the bacteria-associated ubiquitin signal leading to autophagy-mediated intracellular bacteria degradation (xenophagy) (PubMed:23245322, PubMed:25484098). Ubiquitination promoted by PHF23 leads to proteasomal degradation. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 9 +NX_Q6UWE3 Colipase-like protein 2 100 10812 8.85 0 Secreted NA NA NA Belongs to the colipase family. NA PE1 6 +NX_Q6UWF3 SLP adapter and CSK-interacting membrane protein 145 16618 5.21 1 Ruffle;Filopodium;Phagosome;Cell membrane NA Lipid tetraspanin-associated transmembrane adapter/mediator that acts as a scaffold for Src-family kinases and other signaling proteins in immune cells (PubMed:21930792). It is involved in major histocompatibility complex class II (MHC-II) signaling transduction in B cells, where it is required in generating the calcium response and enhancing ERK activity upon MHC-II stimulation (PubMed:21930792). In dendritic cells, it is involved in sustaining CLEC7A/DECTIN1 signaling after CLEC7A activation by fungal beta-glucans (By similarity). It also acts as an agonist-inducible signaling adapter for TLR1, TLR2, TLR3, TLR4, and TLR7 by selectively enabling the expression of pro-inflammatory cytokines IL6 and IL12B in macrophages and acting as a scaffold for phosphorylation of Toll-like receptors by Src-family kinases (By similarity). Palmitoylated.;Phosphorylated by the Src-family protein tyrosine kinases LYN and SRC (PubMed:21930792). Phosphorylation occurs on tyrosine residues upon MHC-II stimulation (PubMed:21930792). Phosphorylation also occurs on tyrosine residues after activation of CLEC7A/DECTIN1 by particulate beta-glucan (By similarity). Lipopolysaccharide (LPS) induces phosphorylation of Tyr-69, Tyr-107 and Tyr-131 differentially to allow temporal recruitment of effector proteins GRB2, CSK and BLNK (By similarity). Phosphorylation of Tyr-69 is immediately induced by LPS stimulation and allows GRB2 to bind (By similarity). Tyr-107 is phosphorylated 5 minutes after LPS stimulation, which then allows CSK to bind, followed by phosphorylation of Tyr-131 10 minutes after LPS induction, which allows BLNK to bind (By similarity). Phosphorylation at Tyr-107 by LYN occurs after activation of TLR4 by lipopolysaccharide; phosphorylation enhances binding to TLR4 (By similarity).;SCIMP is phosphorylated by LYN (Phosphotyrosine:PTM-0255) NA NA PE1 17 +NX_Q6UWF5 Putative uncharacterized protein UNQ5815/PRO19632 114 12886 6.56 2 Membrane NA NA NA NA NA PE4 6 +NX_Q6UWF7 NXPE family member 4 544 62263 9.03 0 Secreted NA NA NA Belongs to the NXPE family. NA PE1 11 +NX_Q6UWF9 Protein FAM180A 173 19733 8.59 0 Nucleoplasm;Secreted NA NA NA Belongs to the FAM180 family. NA PE1 7 +NX_Q6UWH4 Golgi-associated kinase 1B 519 57552 9.75 1 Golgi apparatus;Nucleoplasm;Nucleolus;Golgi apparatus membrane NA NA NA Belongs to the GASK family. NA PE1 4 +NX_Q6UWH6 Protein TEX261 196 22538 6.56 5 Membrane;Nucleoplasm;Cytosol NA NA NA Belongs to the SVP26 family. NA PE1 2 +NX_Q6UWI2 Prostate androgen-regulated mucin-like protein 1 310 32289 4.59 1 Endosome membrane;Cell membrane;Nucleoplasm;Endosome;Golgi apparatus membrane;Cytoplasmic vesicle;Cytosol NA May regulate TLP1 expression and telomerase activity, thus enabling certain prostatic cells to resist apoptosis. Highly N-glycosylated and O-glycosylated. Belongs to the PARM family. NA PE1 4 +NX_Q6UWI4 Protein shisa-2 homolog 295 31375 7.89 1 Nucleoplasm;Endoplasmic reticulum membrane;Nucleus;Cytoplasmic vesicle NA Plays an essential role in the maturation of presomitic mesoderm cells by individual attenuation of both FGF and WNT signaling. NA Belongs to the shisa family. NA PE1 13 +NX_Q6UWJ1 Transmembrane and coiled-coil domain-containing protein 3 677 75598 6.47 10 Membrane;Cytosol NA Probable Na(+)/H(+) antiporter. NA Belongs to the monovalent cation:proton antiporter 2 (CPA2) transporter (TC 2.A.37) family. NA PE1 13 +NX_Q6UWJ8 CD164 sialomucin-like 2 protein 174 18403 6.63 1 Membrane;Cytosol;Cell membrane NA NA NA Belongs to the CD164 family. NA PE1 1 +NX_Q6UWK7 Protein GPR15L 81 9173 10.54 0 Secreted NA Has antimicrobial activity against Gram-positive bacteria, including Staphylococcus aureus and Actinomyces spec., and Mycoplasma hominis and lentivirus (PubMed:25585381).;Chemotactic factor that mediates lymphocytes recruitment to epithelia through binding and activation of the G-protein coupled receptor GPR15 (PubMed:28900043, PubMed:28936214). May be a tumor suppressor; together with SUSD2 has a growth inhibitory effect on colon cancer cells which includes G1 cell cycle arrest (PubMed:25351403). NA NA NA PE1 10 +NX_Q6UWL2 Sushi domain-containing protein 1 747 82710 6.02 1 Membrane;Nucleoplasm NA NA NA NA NA PE1 9 +NX_Q6UWL6 Kin of IRRE-like protein 2 708 75092 6.48 1 Cytoplasm;Centriolar satellite;Nucleus;Cell membrane NA May regulate basal insulin secretion. The extracellular domain is cleaved leading to the generation of a soluble fragment and a membrane-bound C-terminal fragment, which is further cleaved by gamma-secretase.;N-glycosylated. Belongs to the immunoglobulin superfamily. Nephrin family interactions PE1 19 +NX_Q6UWM5 GLIPR1-like protein 1 242 27151 8.57 0 Acrosome;Membrane raft;Cell membrane NA Plays a role in the binding between sperm and oocytes. Component of epididymosomes, one type of membranous microvesicules which mediate the transfer of lipids and proteins to spermatozoa plasma membrane during epididymal maturation. Also component of the CD9-positive microvesicules found in the cauda region. N-glycosylated. N-glycosylation decreases during the transit in the caput. Belongs to the CRISP family. NA PE1 12 +NX_Q6UWM7 Lactase-like protein 567 65088 8.17 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Cell membrane NA Plays a role in formation of the lens suture in the eye, which is important for normal optical properties of the lens. NA Belongs to the glycosyl hydrolase 1 family. Klotho subfamily. NA PE1 15 +NX_Q6UWM9 UDP-glucuronosyltransferase 2A3 527 60254 8.15 1 Membrane NA UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity). NA Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Glucuronidation PE1 4 +NX_Q6UWN0 Ly6/PLAUR domain-containing protein 4 246 26763 8.76 0 Cell membrane NA NA NA NA Post-translational modification: synthesis of GPI-anchored proteins PE1 19 +NX_Q6UWN5 Ly6/PLAUR domain-containing protein 5 251 26936 6.98 0 Nucleoplasm;Cytosol;Cell membrane NA NA NA NA Post-translational modification: synthesis of GPI-anchored proteins PE1 19 +NX_Q6UWN8 Serine protease inhibitor Kazal-type 6 80 8585 8.74 0 Secreted NA Serine protease inhibitor selective for kallikreins. Efficiently inhibits KLK4, KLK5, KLK6, KLK7, KLK12, KLK13 and KLK14. Doesn't inhibit KLK8. NA NA Formation of the cornified envelope PE1 5 +NX_Q6UWP2 Dehydrogenase/reductase SDR family member 11 260 28308 6.17 0 Golgi apparatus;Cytosol;Secreted NA Catalyzes the conversion of the 17-keto group of estrone, 4- and 5-androstenes and 5-alpha-androstanes into their 17-beta-hydroxyl metabolites and the conversion of the 3-keto group of 3-, 3,17- and 3,20- diketosteroids into their 3-hydroxyl metabolites. Exhibits reductive 3-beta-hydroxysteroid dehydrogenase activity toward 5-beta-androstanes, 5-beta-pregnanes, 4-pregnenes and bile acids. May also reduce endogenous and exogenous alpha-dicarbonyl compounds and xenobiotic alicyclic ketones. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Steroid biosynthesis; estrogen biosynthesis. PE1 17 +NX_Q6UWP7 Lysocardiolipin acyltransferase 1 414 48920 8.83 4 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum membrane NA Exhibits acyl-CoA:lysocardiolipin acyltransferase (ALCAT) activity; catalyzes the reacylation of lyso-cardiolipin to cardiolipin (CL), a key step in CL remodeling (By similarity). Recognizes both monolysocardiolipin and dilysocardiolipin as substrates with a preference for linoleoyl-CoA and oleoyl-CoA as acyl donors (By similarity). Also exhibits 1-acyl-sn-glycerol-3-phosphate acyltransferase activity (AGPAT) activity; converts 1-acyl-sn-glycerol-3- phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3- phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (PubMed:16620771). Possesses both lysophosphatidylinositol acyltransferase (LPIAT) and lysophosphatidylglycerol acyltransferase (LPGAT) activities (PubMed:19075029). Required for establishment of the hematopoietic and endothelial lineages (By similarity). NA Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3.;Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PA;Acyl chain remodeling of CL PE1 2 +NX_Q6UWP8 Suprabasin 590 60541 6.5 0 Cytoplasmic vesicle;Secreted NA NA NA NA NA PE1 19 +NX_Q6UWQ5 Lysozyme-like protein 1 148 16654 8.35 0 Secreted NA NA NA Belongs to the glycosyl hydrolase 22 family. NA PE1 10 +NX_Q6UWQ7 Insulin growth factor-like family member 2 119 13248 7.4 0 Nucleoplasm;Secreted;Cell membrane NA Potential ligand of the IGFLR1 cell membrane receptor. NA Belongs to the IGFL family. NA PE2 19 +NX_Q6UWR7 Ectonucleotide pyrophosphatase/phosphodiesterase family member 6 440 50241 8.07 0 Golgi apparatus;Cell membrane NA Choline-specific glycerophosphodiester phosphodiesterase. The preferred substrate may be lysosphingomyelin (By similarity). Hydrolyzes lysophosphatidylcholine (LPC) to form monoacylglycerol and phosphorylcholine but not lysophosphatidic acid, showing it has a lysophospholipase C activity. Has a preference for LPC with short (12:0 and 14:0) or polyunsaturated (18:2 and 20:4) fatty acids. Also hydrolyzes glycerophosphorylcholine and sphingosylphosphorylcholine efficiently. Hydrolyzes the classical substrate for phospholipase C, p-nitrophenyl phosphorylcholine in vitro, while it does not hydrolyze the classical nucleotide phosphodiesterase substrate, p-nitrophenyl thymidine 5'-monophosphate. Does not hydrolyze diacyl phospholipids such as phosphatidylethanolamine, phosphatidylinositol, phosphatidylserine, phosphatidylglycerol and phosphatidic acid. NA Belongs to the nucleotide pyrophosphatase/phosphodiesterase family. Ether lipid metabolism;Glycerophospholipid catabolism PE1 4 +NX_Q6UWS5 Protein PET117 homolog, mitochondrial 81 9223 10.1 0 Mitochondrion NA NA NA Belongs to the PET117 family. NA PE1 20 +NX_Q6UWT2 Adropin 76 7927 5.38 0 Secreted NA Involved in the regulation of glucose homeostasis and lipid metabolism. NA NA NA PE2 9 +NX_Q6UWT4 Uncharacterized protein C5orf46 87 9693 4.67 0 Nucleus speckle;Secreted;Mitochondrion NA NA NA NA NA PE1 5 +NX_Q6UWU2 Beta-galactosidase-1-like protein 654 74158 9.01 0 Secreted NA Probable glycosyl hydrolase. NA Belongs to the glycosyl hydrolase 35 family. Glycosphingolipid metabolism;Keratan sulfate degradation;HS-GAG degradation PE1 2 +NX_Q6UWU4 Bombesin receptor-activated protein C6orf89 347 39870 6.36 1 Cytoplasm;Nucleolus;Midbody;Golgi apparatus membrane NA Exhibits histone deacetylase (HDAC) enhancer properties (PubMed:23460338). May play a role in cell cycle progression and wound repair of bronchial epithelial cells (PubMed:21857995). Glycosylated. NA NA PE1 6 +NX_Q6UWV2 Myelin protein zero-like protein 3 235 25989 8.12 1 Membrane;Golgi apparatus NA Mediates homophilic cell-cell adhesion. NA Belongs to the myelin P0 protein family. NA PE1 11 +NX_Q6UWV6 Ectonucleotide pyrophosphatase/phosphodiesterase family member 7 458 51494 6.39 1 Cell membrane NA Converts sphingomyelin to ceramide and phosphocholine (PubMed:12885774, PubMed:12671034, PubMed:15205117, PubMed:28292932). Has also phospholipase C activity and can cleave phosphocholine from palmitoyl lyso-phosphatidylcholine (PubMed:12885774). Does not have nucleotide pyrophosphatase activity (PubMed:12885774). N-glycosylated; required for activity and transport to the plasma membrane. Belongs to the nucleotide pyrophosphatase/phosphodiesterase family. Sphingolipid metabolism;Metabolic pathways;Glycosphingolipid metabolism PE1 17 +NX_Q6UWV7 Protein shisa-like-2A 190 20306 4.94 2 Membrane NA NA NA Belongs to the shisa family. NA PE2 1 +NX_Q6UWW0 Lipocalin-15 184 20454 4.8 0 Secreted NA NA NA Belongs to the calycin superfamily. Lipocalin family. Transport of fatty acids PE1 9 +NX_Q6UWW8 Carboxylesterase 3 571 62282 5.41 0 Endoplasmic reticulum;Endoplasmic reticulum lumen;Nucleus membrane NA Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Shows low catalytic efficiency for hydrolysis of CPT-11 (7-ethyl-10-[4-(1-piperidino)-1-piperidino]-carbonyloxycamptothecin), a prodrug for camptothecin used in cancer therapeutics. N-glycosylated. Belongs to the type-B carboxylesterase/lipase family. Phase I - Functionalization of compounds;LDL clearance PE1 16 +NX_Q6UWW9 Transmembrane protein 207 146 16116 4.95 1 Membrane NA NA NA NA NA PE1 3 +NX_Q6UWX4 HHIP-like protein 2 724 80779 9.21 0 Cytosol;Mitochondrion;Secreted NA NA NA Belongs to the HHIP family. NA PE1 1 +NX_Q6UWY0 Arylsulfatase K 536 61450 9.02 0 Nucleoplasm;Secreted;Cytoplasmic vesicle NA NA The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. Belongs to the sulfatase family. Glycosphingolipid metabolism;The activation of arylsulfatases PE1 5 +NX_Q6UWY2 Serine protease 57 283 30334 9.56 0 Cytoplasmic granule lumen;Secreted NA Serine protease that cleaves preferentially after Arg residues (PubMed:22474388, PubMed:23904161, PubMed:25156428). Can also cleave after citrulline (deimidated arginine) and methylarginine residues (PubMed:25156428). N-glycosylated.;After cleavage of the signal peptide, the N-terminus is probably further processed by CTSC (PubMed:22474388, PubMed:23904161). Processing by CTSC is probably required for accumulation in cytoplasmic granules; in the absence of CTSC the protein does not accumulate (PubMed:23904161). Belongs to the peptidase S1 family. NA PE1 19 +NX_Q6UWY5 Olfactomedin-like protein 1 402 45951 8.29 0 Secreted NA NA Highly N-glycosylated. NA NA PE1 11 +NX_Q6UWZ7 BRCA1-A complex subunit Abraxas 1 409 46663 6.58 0 Nucleus Breast cancer Involved in DNA damage response and double-strand break (DSB) repair. Component of the BRCA1-A complex, acting as a central scaffold protein that assembles the various components of the complex and mediates the recruitment of BRCA1. The BRCA1-A complex specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesion sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at DSBs. This complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. Phosphorylation of Ser-406 of the pSXXF motif by ATM or ATR constitutes a specific recognition motif for the BRCT domain of BRCA1 (PubMed:17643121, PubMed:17525340, PubMed:17643122). Ionizing radiation promotes rapid phosphorylation at Ser-404 and Ser-406 by ATM; this promotes recruitment of BRCA1 to sites of DNA damage (PubMed:26778126). Belongs to the FAM175 family. Abraxas subfamily. G2/M DNA damage checkpoint;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Metalloprotease DUBs PE1 4 +NX_Q6UX01 Protein LMBR1L 489 55209 8.39 9 Endoplasmic reticulum membrane;Cell membrane NA Plays an essential role in lymphocyte development by negatively regulating the canonical Wnt signaling pathway (By similarity). In association with UBAC2 and E3 ubiquitin-protein ligase AMFR, promotes the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6 (By similarity). LMBR1L stabilizes the beta-catenin destruction complex that is required for regulating CTNNB1 levels (By similarity). Acts as a LCN1 receptor and can mediate its endocytosis (PubMed:11287427, PubMed:12591932, PubMed:23964685). NA Belongs to the LIMR family. NA PE1 12 +NX_Q6UX04 Spliceosome-associated protein CWC27 homolog 472 53847 5.6 0 Nucleoplasm;Nucleus Retinitis pigmentosa with or without skeletal anomalies As part of the spliceosome, plays a role in pre-mRNA splicing (PubMed:29360106). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357). NA Belongs to the cyclophilin-type PPIase family. mRNA Splicing - Major Pathway PE1 5 +NX_Q6UX06 Olfactomedin-4 510 57280 5.5 0 Mitochondrion;Cell membrane;Nucleoplasm;Extracellular space;Cytosol;Cytoskeleton NA May promote proliferation of pancreatic cancer cells by favoring the transition from the S to G2/M phase. In myeloid leukemic cell lines, inhibits cell growth and induces cell differentiation and apoptosis. May play a role in the inhibition of EIF4EBP1 phosphorylation/deactivation. Facilitates cell adhesion, most probably through interaction with cell surface lectins and cadherin. N-glycosylated. NA Neutrophil degranulation PE1 13 +NX_Q6UX07 Dehydrogenase/reductase SDR family member 13 377 40849 7.63 0 Cytoplasmic vesicle;Secreted NA Putative oxidoreductase. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. NA PE1 17 +NX_Q6UX15 Layilin 382 43108 4.85 1 Membrane;Cytosol NA Receptor for hyaluronate. NA NA NA PE1 11 +NX_Q6UX27 V-set and transmembrane domain-containing protein 1 236 26109 4.98 1 Membrane;Cytoplasmic vesicle;Secreted NA Inhibitory immune receptor involved in the regulation of phagocytes.;Behaves as a cytokine, promoting IL17A secretion by CD4+ T-cells, and differentiation and activation of IL17 producing helper T-cells (TH17). Is N-glycosylated. NA NA PE1 19 +NX_Q6UX34 Protein SNORC 121 12073 4.11 1 Cytoplasm;Extracellular matrix;Nucleolus;Membrane;Nucleoplasm NA Plays a role in the regulation of chondrocyte maturation and postnatal endochondral ossification. May inhibit cell growth stimulation induced by FGF2. NA NA NA PE2 2 +NX_Q6UX39 Amelotin 209 21588 5.29 0 Secreted Amelogenesis imperfecta 3B Is a promoter of calcium phosphate mineralization, playing a critical role in the formation of the compact, mineralized, aprismatic enamel surface layer during the maturation stage of amelogenesis. O-glycosylated.;Phosphorylated by FAM20C in vitro. Belongs to the amelotin family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 4 +NX_Q6UX40 Transmembrane protein 107 140 15503 6.05 4 Cell membrane;Cilium;Membrane;Nucleoplasm;Midbody ring Orofaciodigital syndrome 16;Meckel syndrome 13 Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types (By similarity). During ciliogenesis regulates the ciliary transition zone localization of some MKS complex proteins (PubMed:26518474). NA NA NA PE1 17 +NX_Q6UX41 Butyrophilin-like protein 8 500 56748 8.38 1 Membrane NA May stimulate primary immune response. Acts on T-cell stimulated sub-optimally through the TCR/CD3 complex stimulating their proliferation and cytokine production. NA Belongs to the immunoglobulin superfamily. BTN/MOG family. Butyrophilin (BTN) family interactions PE1 5 +NX_Q6UX46 ALK and LTK ligand 2 152 16915 9.75 0 Secreted NA Ligand for receptor tyrosine kinases LTK and ALK. Stimulation of ALK signaling may be involved in regulation of cell proliferation and transformation. NA Belongs to the ALKAL family. NA PE1 2 +NX_Q6UX52 Protein IL-40 265 29091 8.93 0 Secreted NA Probable B cell-associated cytokine that plays a role in the regulation of humoral immune responses. Involved in lymphocyte B cell development and immunoglobulin/IgA production. NA NA NA PE1 17 +NX_Q6UX53 Methyltransferase-like protein 7B 244 27775 8.71 0 Cytoplasmic vesicle;Cytoskeleton NA Probable methyltransferase. NA Belongs to the methyltransferase superfamily. NA PE1 12 +NX_Q6UX65 DNA damage-regulated autophagy modulator protein 2 266 29766 8.2 6 Golgi apparatus;Photoreceptor inner segment;Lysosome membrane;Cytoplasmic vesicle;Apical cell membrane Cone-rod dystrophy 21 Plays a role in the initiation of autophagy. In the retina, might be involved in the process of photoreceptor cells renewal and recycling to preserve visual function. Induces apoptotic cell death when coexpressed with DRAM1. NA Belongs to the DRAM/TMEM150 family. NA PE1 1 +NX_Q6UX68 XK-related protein 5 686 75014 6.21 5 Membrane NA NA NA Belongs to the XK family. NA PE1 8 +NX_Q6UX71 Plexin domain-containing protein 2 529 59583 5.99 1 Membrane;Nucleus NA May play a role in tumor angiogenesis. NA Belongs to the plexin family. NA PE1 10 +NX_Q6UX72 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 402 43751 9.33 1 Golgi apparatus;Nucleolus;Golgi apparatus membrane NA NA NA Belongs to the glycosyltransferase 31 family. O-linked glycosylation of mucins PE1 16 +NX_Q6UX73 UPF0764 protein C16orf89 402 45391 5.82 0 Secreted NA NA Glycosylated. Belongs to the UPF0764 family. NA PE1 16 +NX_Q6UX82 Ly6/PLAUR domain-containing protein 8 237 25265 5.48 0 Secreted;Cell membrane NA Secreted protein specifically required to prevent invasion of Gram-negative bacteria in the inner mucus layer of the colon epithelium, a portion of the large intestine which is free of commensal microbiota. Prevents invasion of flagellated microbiota by binding to the flagellum of bacteria, such as P.mirabilis, thereby inhibiting bacterial motility in the intestinal lumen. Segregation of intestinal bacteria and epithelial cells in the colon is required to preserve intestinal homeostasis. GPI-anchored. The GPI-anchor is cleaved, leading to secretion into the colonic lumen.;Highly N-glycosylated. Not O-glycosylated. Belongs to the CNF-like-inhibitor family. Post-translational modification: synthesis of GPI-anchored proteins PE1 1 +NX_Q6UX98 Probable palmitoyltransferase ZDHHC24 284 30176 9.01 5 Membrane;Cytoplasmic vesicle;Cytosol NA NA NA Belongs to the DHHC palmitoyltransferase family. NA PE1 11 +NX_Q6UXA7 Uncharacterized protein C6orf15 325 34195 7.88 0 Extracellular matrix NA NA NA NA NA PE1 6 +NX_Q6UXB0 Protein FAM131A 366 39503 4.59 0 Nucleolus NA NA NA Belongs to the FAM131 family. NA PE1 3 +NX_Q6UXB1 Insulin growth factor-like family member 3 125 14198 8.97 0 Secreted NA Potential ligand of the IGFLR1 cell membrane receptor. NA Belongs to the IGFL family. NA PE1 19 +NX_Q6UXB2 C-X-C motif chemokine 17 119 13819 10.97 0 Secreted NA 4-Cys CXCL17: seems exhibit much higher chemoattractant potency on monocytes and macrophages than 6-Cys CXCL17.;Chemokine that acts as chemoattractant for monocytes, macrophages and dendritic cells (PubMed:16455961, PubMed:23115081). Plays a role in angiogenesis and possibly in the development of tumors (PubMed:16989774, PubMed:23115081). Acts as an anti-inflammatory in the stomach (PubMed:23115081). May play a role in the innate defense against infections (PubMed:17307946). Activates the C-X-C chemokine receptor GPR35 to induce a rapid and transient rise in the level of intracellular calcium ions (PubMed:25411203). Likely to undergo an endoproteolytic process to form a four-cysteine-containing mature peptide with a canonical CXC chemokine scaffold after secretion. Belongs to the intercrine alpha (chemokine CxC) family. NA PE1 19 +NX_Q6UXB3 Ly6/PLAUR domain-containing protein 2 125 13115 5.69 0 Cell membrane NA NA NA NA Post-translational modification: synthesis of GPI-anchored proteins PE1 8 +NX_Q6UXB4 C-type lectin domain family 4 member G 293 32562 6.15 1 Cell membrane NA Binds mannose, N-acetylglucosamine (GlcNAc) and fucose, but not galactose, in a Ca(2+)-dependent manner, in vitro.;(Microbial infection) Acts as a receptor for SARS coronavirus/SARS-CoV.;(Microbial infection) Acts as a receptor for Lassa virus and Lymphocytic choriomeningitis virus glycoprotein (PubMed:22156524, PubMed:22673088).;(Microbial infection) Acts as a receptor for Ebolavirus.;(Microbial infection) Acts as a receptor for Japanese encephalitis virus. NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_Q6UXB8 Peptidase inhibitor 16 463 49471 5.24 0 Secreted NA May inhibit cardiomyocyte growth. N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. Belongs to the CRISP family. NA PE1 6 +NX_Q6UXC1 Apical endosomal glycoprotein 1216 131499 5.66 1 Membrane;Nucleoplasm;Cytosol NA Probably involved in the sorting and selective transport of receptors and ligands across polarized epithelia. NA NA NA PE1 9 +NX_Q6UXD1 Histidine-rich carboxyl terminus protein 1 115 13183 12.13 1 Membrane;Nucleoplasm NA NA NA NA NA PE2 9 +NX_Q6UXD5 Seizure 6-like protein 2 910 97560 4.8 1 Endoplasmic reticulum membrane;Cell membrane NA May contribute to specialized endoplasmic reticulum functions in neurons. O-glycosylated with core 1 or possibly core 8 glycans. Belongs to the SEZ6 family. NA PE1 16 +NX_Q6UXD7 Solute carrier family 49 member A3 560 58427 6.45 12 Membrane NA NA NA Belongs to the major facilitator superfamily. NA PE1 4 +NX_Q6UXE8 Butyrophilin-like protein 3 466 52251 5.84 1 Membrane NA NA NA Belongs to the immunoglobulin superfamily. BTN/MOG family. NA PE1 5 +NX_Q6UXF1 Transmembrane protein 108 575 59948 9.62 2 Cell membrane;Endosome membrane;Early endosome;Nucleolus;Membrane;Postsynaptic density;Cytoplasmic vesicle;Cytosol;Axon;Dendrite NA Transmembrane protein required for proper cognitive functions. Involved in the development of dentate gyrus (DG) neuron circuitry, is necessary for AMPA receptors surface expression and proper excitatory postsynaptic currents of DG granule neurons. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Through the interaction with DST, mediates the docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport. In hippocampal neurons, required for BDNF-dependent dendrite outgrowth. Cooperates with SH3GL2 and recruits the WAVE1 complex to facilitate actin-dependent BDNF:NTRK2 early endocytic trafficking and mediate signaling from early endosomes. Glycosylated. NA NA PE1 3 +NX_Q6UXF7 C-type lectin domain family 18 member B 455 50490 8.39 0 Golgi apparatus;Endoplasmic reticulum;Endosome;Secreted NA Binds polysaccharides in a Ca(2+)-independent manner (By similarity). NA NA NA PE2 16 +NX_Q6UXG2 UPF0577 protein KIAA1324 1013 111382 6.13 1 Lysosome membrane;trans-Golgi network membrane;Late endosome membrane;Cell membrane NA May protect cells from cell death by inducing cytosolic vacuolization and upregulating the autophagy pathway. NA Belongs to the UPF0577 family. NA PE1 1 +NX_Q6UXG3 CMRF35-like molecule 9 332 36060 5.68 1 Basolateral cell membrane;Apical cell membrane;Multivesicular body membrane NA Receptor which may mediate L-selectin-dependent lymphocyte rollings. Binds SELL in a calcium dependent manner. Binds lymphocyte (By similarity). O-glycosylated with sialylated oligosaccharides. Belongs to the CD300 family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 17 +NX_Q6UXG8 Butyrophilin-like protein 9 535 59716 6 1 Membrane;Cytoplasmic vesicle;Nucleus membrane NA NA NA Belongs to the immunoglobulin superfamily. BTN/MOG family. Butyrophilin (BTN) family interactions PE1 5 +NX_Q6UXH0 Angiopoietin-like protein 8 198 22105 7.08 0 Golgi apparatus;Nucleoplasm;Secreted Diabetes mellitus, insulin-dependent;Diabetes mellitus, non-insulin-dependent Hormone that acts as a blood lipid regulator by regulating serum triglyceride levels (PubMed:22569073, PubMed:22809513, PubMed:23150577). May be involved in the metabolic transition between fasting and refeeding: required to direct fatty acids to adipose tissue for storage in the fed state (By similarity). Proteolytically cleaved at the N-terminus. Belongs to the ANGPTL8 family. Assembly of active LPL and LIPC lipase complexes PE1 19 +NX_Q6UXH1 Protein disulfide isomerase CRELD2 353 38192 4.5 0 Endoplasmic reticulum NA Protein disulfide isomerase (By similarity). Might play a role in the unfolded protein response (By similarity). May regulate transport of alpha4-beta2 neuronal acetylcholine receptor (PubMed:16238698). NA Belongs to the CRELD family. NA PE1 22 +NX_Q6UXH8 Collagen and calcium-binding EGF domain-containing protein 1 406 44103 7.74 0 Cytosol;Secreted;Cell membrane Hennekam lymphangiectasia-lymphedema syndrome 1 Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis. NA Belongs to the CCBE1 family. NA PE1 18 +NX_Q6UXH9 Inactive serine protease PAMR1 720 80199 7.57 0 Secreted NA May play a role in regeneration of skeletal muscle. NA Belongs to the peptidase S1 family. NA PE1 11 +NX_Q6UXI7 Vitrin 678 73930 9.29 0 Extracellular matrix NA Promotes matrix assembly and cell adhesiveness. Plays a role in spinal cord formation by regulating the proliferation and differentiation of neural stem cells. NA NA NA PE1 2 +NX_Q6UXI9 Nephronectin 565 61907 8.74 0 Nucleoplasm;Cytosol;Cell junction;Extracellular matrix NA Functional ligand of integrin alpha-8/beta-1 in kidney development. Regulates the expression of GDNF with integrin alpha-8/beta-1 which is essential for kidney development. May also play a role in the development and function of various tissues, regulating cell adhesion, spreading and survival through the binding of several integrins (By similarity). NA Belongs to the nephronectin family. NA PE1 4 +NX_Q6UXK2 Immunoglobulin superfamily containing leucine-rich repeat protein 2 745 78990 5.17 1 Cell membrane NA Required for axon extension during neural development. NA NA NA PE1 15 +NX_Q6UXK5 Leucine-rich repeat neuronal protein 1 716 80716 5.77 1 Membrane NA NA NA NA NA PE1 3 +NX_Q6UXL0 Interleukin-20 receptor subunit beta 311 35076 4.98 1 Membrane;Cytoplasmic vesicle;Cytosol NA The IL20RA/IL20RB dimer is a receptor for IL19, IL20 and IL24. The IL22RA1/IL20RB dimer is a receptor for IL20 and IL24. NA Belongs to the type II cytokine receptor family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-20 family signaling PE1 3 +NX_Q6UXM1 Leucine-rich repeats and immunoglobulin-like domains protein 3 1119 123434 5.79 1 Cytoplasmic vesicle membrane;Cytosol;Cell membrane NA May play a role in craniofacial and inner ear morphogenesis during embryonic development. May act within the otic vesicle epithelium to control formation of the lateral semicircular canal in the inner ear, possibly by restricting the expression of NTN1 (By similarity). NA NA NA PE1 12 +NX_Q6UXN2 Trem-like transcript 4 protein 200 21924 8.87 0 Secreted NA Positively regulates Toll-like receptor TLR7 signaling in macrophages. NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE2 6 +NX_Q6UXN7 TOMM20-like protein 1 152 17700 8.87 1 Mitochondrion outer membrane NA NA NA Belongs to the Tom20 family. NA PE1 14 +NX_Q6UXN8 C-type lectin domain family 9 member A 241 27324 6.42 1 Membrane NA Functions as an endocytic receptor on a small subset of myeloid cells specialized for the uptake and processing of material from dead cells. Recognizes filamentous form of actin in association with particular actin-binding domains of cytoskeletal proteins, including spectrin, exposed when cell membranes are damaged, and mediate the cross-presentation of dead-cell associated antigens in a Syk-dependent manner. N-glycosylated. NA NA PE1 12 +NX_Q6UXN9 WD repeat-containing protein 82 313 35079 7.59 0 Nucleolus;Nucleus NA Regulatory component of the SET1 complex implicated in the tethering of this complex to transcriptional start sites of active genes. Facilitates histone H3 'Lys-4' methylation via recruitment of the SETD1A or SETD1B to the 'Ser-5' phosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A). Component of PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. NA Belongs to the WD repeat SWD2 family. NA PE1 3 +NX_Q6UXP3 Transmembrane protein 14EP 125 13608 8.46 2 Membrane NA NA NA Belongs to the TMEM14 family. NA PE5 3 +NX_Q6UXP7 Protein FAM151B 276 31367 5.6 0 Cytosol NA NA NA Belongs to the FAM151 family. NA PE1 5 +NX_Q6UXP9 Putative uncharacterized protein UNQ9370/PRO34162 181 19777 9.67 0 NA NA NA NA NA NA PE5 15 +NX_Q6UXQ4 Uncharacterized protein C2orf66 117 13321 9.57 0 Secreted NA NA NA NA NA PE2 2 +NX_Q6UXQ8 Putative uncharacterized protein UNQ6190/PRO20217 127 13410 11.87 0 Secreted NA NA NA NA NA PE5 15 +NX_Q6UXR4 Putative serpin A13 307 34864 5.95 0 Secreted NA NA NA Belongs to the serpin family. NA PE5 14 +NX_Q6UXR6 Putative uncharacterized protein UNQ6494/PRO21346 183 19530 6.19 0 Secreted NA NA NA NA NA PE5 9 +NX_Q6UXR8 Putative uncharacterized protein UNQ6493/PRO21345 122 12794 7.65 0 NA NA NA NA NA NA PE5 19 +NX_Q6UXS0 C-type lectin domain family 19 member A 136 15448 6.17 0 Secreted NA NA NA NA NA PE2 16 +NX_Q6UXS9 Inactive caspase-12 341 38907 5.63 0 NA NA Has no protease activity. May reduce cytokine release in response to bacterial lipopolysaccharide during infections. Reduces activation of NF-kappa-B in response to TNF. NA Belongs to the peptidase C14A family. NA PE1 11 +NX_Q6UXT8 ALK and LTK ligand 1 129 14269 10.6 0 Secreted NA Ligand for receptor tyrosine kinase LTK and perhaps receptor tyrosine kinase ALK; activation of ALK is reported conflictingly. NA Belongs to the ALKAL family. NA PE1 8 +NX_Q6UXT9 Protein ABHD15 468 51771 7.57 0 Nucleoplasm;Cytosol;Secreted NA NA NA Belongs to the AB hydrolase superfamily. AB hydrolase 4 family. NA PE1 17 +NX_Q6UXU0 Putative uncharacterized protein UNQ9165/PRO28630 137 14541 10.84 0 Secreted NA NA NA NA NA PE2 19 +NX_Q6UXU4 Germ cell-specific gene 1-like protein 331 36774 6.59 4 Synapse;Cell membrane NA As a component of the inner core of AMPAR complex, modifies AMPA receptor (AMPAR) gating. NA Belongs to the GSG1 family. NA PE1 16 +NX_Q6UXU6 Transmembrane protein 92 159 17229 5.48 1 Membrane;Nucleoplasm NA NA NA NA NA PE1 17 +NX_Q6UXV0 GDNF family receptor alpha-like 394 44518 8.28 1 Cell membrane NA Brainstem-restricted receptor for GDF15 which regulates food intake, energy expenditure and body weight in response to metabolic and toxin-induced stresses (PubMed:28953886, PubMed:28846097, PubMed:28846098, PubMed:28846099). Upon interaction with its ligand, GDF15, interacts with RET and induces cellular signaling through activation of MAPK- and AKT- signaling pathways. NA Belongs to the GDNFR family. NA PE1 6 +NX_Q6UXV1 Izumo sperm-egg fusion protein 2 221 24856 9.07 1 Membrane NA NA NA Belongs to the Izumo family. Acrosome Reaction and Sperm:Oocyte Membrane Binding PE1 19 +NX_Q6UXV3 Uncharacterized protein UNQ6126/PRO20091 157 16883 5.18 0 Secreted NA NA NA NA NA PE2 22 +NX_Q6UXV4 MICOS complex subunit MIC27 268 29159 9.55 2 Mitochondrion inner membrane;Mitochondrion NA Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Specifically binds to cardiolipin (in vitro) but not to the precursor lipid phosphatidylglycerol. Plays a crucial role in crista junction formation and mitochondrial function (PubMed:23704930), (PubMed:25764979). NA Belongs to the apolipoprotein O/MICOS complex subunit Mic27 family. Platelet degranulation;Cristae formation PE1 X +NX_Q6UXX5 Inter-alpha-trypsin inhibitor heavy chain H6 1313 143187 9.1 0 Secreted NA NA NA Belongs to the ITIH family. NA PE1 X +NX_Q6UXX9 R-spondin-2 243 28315 9.42 0 Secreted Humerofemoral hypoplasia with radiotibial ray deficiency;Tetraamelia syndrome 2 Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway (PubMed:21909076, PubMed:21727895, PubMed:22615920). During embryonic development, plays a crucial role in limb specification, amplifying the Wnt signaling pathway independently of LGR4-6 receptors, possibly by acting as a direct antagonistic ligand to RNF43 and ZNRF3, hence governing the number of limbs an embryo should form (PubMed:29769720). NA Belongs to the R-spondin family. Regulation of FZD by ubiquitination PE1 8 +NX_Q6UXY1 Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2 529 58987 9.53 0 Cytoplasmic vesicle membrane;Cell junction;Cell membrane NA Phosphoinositides-binding protein that induces the formation of planar or gently curved membrane structures. Binds to phosphoinositides, including to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) headgroups. There seems to be no clear preference for a specific phosphoinositide (By similarity). NA NA NA PE1 22 +NX_Q6UXY8 Transmembrane channel-like protein 5 1006 114797 8.46 10 Membrane;Nucleoplasm;Cell membrane NA Probable ion channel. NA Belongs to the TMC family. NA PE1 16 +NX_Q6UXZ0 Transmembrane and immunoglobulin domain-containing protein 1 262 29185 8.07 1 Cytoplasm;Mitochondrion;Cell membrane NA May control cell-cell adhesion, cell migration and proliferation, cell morphology, and protects renal epithelial cells from oxidative cell injury to promote cell survival. N-glycosylated. NA NA PE1 17 +NX_Q6UXZ3 CMRF35-like molecule 5 194 21558 9.12 1 Cell membrane NA NA N-glycosylated. Belongs to the CD300 family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 17 +NX_Q6UXZ4 Netrin receptor UNC5D 953 105880 5.71 1 Cell membrane NA Receptor for the netrin NTN4 that promotes neuronal cell survival (By similarity). Plays a role in cell-cell adhesion and cell guidance. Receptor for netrin involved in cell migration. Plays a role in axon guidance by mediating axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding (By similarity). May play a role in apoptosis in response to DNA damage (PubMed:24691657). It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand (PubMed:24519068). Mediates cell-cell adhesion via its interaction with FLRT3 on an adjacent cell (By similarity). Proteolytically cleaved by caspases during apoptosis. The cleavage does not take place when the receptor is associated with netrin ligand. Its cleavage by caspases is required to induce apoptosis. Belongs to the unc-5 family. Axon guidance;Netrin mediated repulsion signals PE1 8 +NX_Q6UY01 Leucine-rich repeat-containing protein 31 552 61489 5.71 0 NA NA NA NA NA NA PE1 3 +NX_Q6UY09 Carcinoembryonic antigen-related cell adhesion molecule 20 596 65808 5.49 1 Apical cell membrane;Microvillus membrane NA Together with the tyrosine-protein kinase SYK, enhances production of the cytokine CXCL8/IL-8 via the NFKB pathway and may thus have a role in the intestinal immune response. Phosphorylated on tyrosine residues by SYK, SRC and FYN in vitro. Belongs to the immunoglobulin superfamily. CEA family. NA PE1 19 +NX_Q6UY11 Protein delta homolog 2 383 40548 6.09 1 Membrane;Nucleoplasm;Nucleolus;Cytoplasmic vesicle NA Regulates adipogenesis. NA NA NA PE1 6 +NX_Q6UY13 Putative uncharacterized protein UNQ5830/PRO19650/PRO19816 95 10734 9.78 0 Secreted NA NA NA NA NA PE3 2 +NX_Q6UY14 ADAMTS-like protein 4 1074 116545 8.79 0 Cytosol;Extracellular matrix;Cell membrane Ectopia lentis 2, isolated, autosomal recessive;Ectopia lentis et pupillae Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis. N-glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs. N- and C-glycosylations can also facilitate secretion (By similarity). NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 1 +NX_Q6UY18 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 4 593 63774 8.53 1 Membrane NA NA NA NA NA PE2 1 +NX_Q6UY27 Prostate and testis expressed protein 2 113 13015 6.91 0 Secreted NA NA NA Belongs to the PATE family. NA PE1 11 +NX_Q6UYE1 Leukemia-associated protein 7 221 23924 7.77 0 NA NA NA NA NA NA PE1 13 +NX_Q6V0I7 Protocadherin Fat 4 4981 542687 4.77 1 Membrane;Cytosol Van Maldergem syndrome 2;Hennekam lymphangiectasia-lymphedema syndrome 2 Cadherins are calcium-dependent cell adhesion proteins. FAT4 plays a role in the maintenance of planar cell polarity as well as in inhibition of YAP1-mediated neuroprogenitor cell proliferation and differentiation (By similarity). NA NA NA PE1 4 +NX_Q6V0L0 Cytochrome P450 26C1 522 57111 9.24 1 Membrane Focal facial dermal dysplasia 4 Plays a role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and its stereoisomer 9-cis-RA (preferred substrate). NA Belongs to the cytochrome P450 family. Retinol metabolism;RA biosynthesis pathway;Vitamins;Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) PE1 10 +NX_Q6V1P9 Protocadherin-23 2916 322234 4.63 1 Membrane;Cytoplasmic vesicle;Cell membrane NA Calcium-dependent cell-adhesion protein. NA NA NA PE1 4 +NX_Q6V1X1 Dipeptidyl peptidase 8 898 103358 5.52 0 Cytoplasm;Cytosol NA Dipeptidyl peptidase that cleaves off N-terminal dipeptides from proteins having a Pro or Ala residue at position 2. NA Belongs to the peptidase S9B family. DPPIV subfamily. NA PE1 15 +NX_Q6V702 Cilia- and flagella-associated protein 299 233 26869 5.28 0 Cytoplasm;Cytosol;Nucleus;Cell membrane NA May be involved in spermatogenesis. NA NA NA PE1 4 +NX_Q6V9R5 Zinc finger protein 562 426 48563 8.76 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q6VAB6 Kinase suppressor of Ras 2 950 107632 8.95 0 Membrane;Cytoplasm NA Location-regulated scaffold connecting MEK to RAF. Has very low protein kinase activity and can phosphorylate MAP2K1 at several Ser and Thr residues with very low efficiency (in vitro). Acts as MAP2K1/MEK1-dependent allosteric activator of BRAF; upon binding to MAP2K1/MEK1, dimerizes with BRAF and promotes BRAF-mediated phosphorylation of MAP2K1/MEK1 (PubMed:29433126). Interaction with BRAF enhances KSR2-mediated phosphorylation of MAP2K1 (in vitro). Blocks MAP3K8 kinase activity and MAP3K8-mediated signaling. Acts as a negative regulator of MAP3K3-mediated activation of ERK, JNK and NF-kappa-B pathways, inhibiting MAP3K3-mediated interleukin-8 production. Phosphorylated on Ser-474 by MARK3. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. MAP2K and MAPK activation;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 12 +NX_Q6VB84 Forkhead box protein D4-like 3 417 45820 9.82 0 Nucleus NA NA NA NA NA PE2 9 +NX_Q6VEQ5 WAS protein family homolog 2 465 50312 5.53 0 Centriole;Autophagosome;Recycling endosome membrane;Late endosome;Early endosome membrane NA Acts as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting. Involved in endocytic trafficking of EGF. Its assembly in the WASH core complex seems to inhibit its NPF activity and via WASHC2 is required for its membrane targeting. Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma membrane and involved in invasive cell migration. In T-cells involved in endosome-to-membrane recycling of receptors including T-cell receptor (TCR), CD28 and ITGAL; proposed to be implicated in T-cell proliferation and effector function. In dendritic cells involved in endosome-to-membrane recycling of major histocompatibility complex (MHC) class II probably involving retromer and subsequently allowing antigen sampling, loading and presentation during T-cell activation. Involved in Arp2/3 complex-dependent actin assembly driving Salmonella typhimurium invasion independent of ruffling. Involved in the exocytosis of MMP14 leading to matrix remodeling during invasive migration and implicating late endosome-to-plasma membrane tubular connections and cooperation with the exocyst complex. Involved in negative regulation of autophagy independently from its role in endosomal sorting by inhibiting BECN1 ubiquitination to inactivate PIK3C3/Vps34 activity (By similarity). NA Belongs to the WASH1 family. NA PE2 2 +NX_Q6VMQ6 Activating transcription factor 7-interacting protein 1 1270 136394 4.58 0 Nucleoplasm;Nucleus NA Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Required for HUSH-mediated heterochromatin formation and gene silencing (PubMed:27732843). Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1 (PubMed:12665582). Stabilizes SETDB1, is required to stimulate histone methyltransferase activity of SETDB1 and facilitates the conversion of dimethylated to trimethylated H3 'Lys-9' (H3K9me3). The complex formed with MBD1 and SETDB1 represses transcription and couples DNA methylation and histone H3 'Lys-9' trimethylation (H3K9me3) (PubMed:14536086, PubMed:27732843). Facilitates telomerase TERT and TERC gene expression by SP1 in cancer cells (PubMed:19106100). NA Belongs to the MCAF family. PKMTs methylate histone lysines PE1 12 +NX_Q6VN20 Ran-binding protein 10 620 67257 6.29 0 Cytosol;Nucleus NA May act as an adapter protein to couple membrane receptors to intracellular signaling pathways (Probable). Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation (PubMed:18222118). Acts as a guanine nucleotide exchange factor (GEF) for RAN GTPase. May play an essential role in hemostasis and in maintaining microtubule dynamics with respect to both platelet shape and function (By similarity). NA Belongs to the RANBP9/10 family. MET activates RAS signaling PE1 16 +NX_Q6VUC0 Transcription factor AP-2-epsilon 442 46212 8.64 0 Nucleus NA Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-epsilon may play a role in the development of the CNS and in cartilage differentiation (By similarity). NA Belongs to the AP-2 family. Activation of the TFAP2 (AP-2) family of transcription factors;Negative regulation of activity of TFAP2 (AP-2) family transcription factors PE2 1 +NX_Q6VVB1 E3 ubiquitin-protein ligase NHLRC1 395 42293 6.99 0 Endoplasmic reticulum;Nucleus;Cytoplasmic vesicle Epilepsy, progressive myoclonic 2 E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Ubiquitinates the glycogen-targeting protein phosphatase subunits PPP1R3C/PTG and PPP1R3D in a laforin-dependent manner and targets them for proteasome-dependent degradation, thus decreasing glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and targets them for proteasome-dependent degradation. Also promotes proteasome-independent protein degradation through the macroautophagy pathway. NA NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Glycogen synthesis;Myoclonic epilepsy of Lafora PE1 6 +NX_Q6VVX0 Vitamin D 25-hydroxylase 501 57359 7.25 0 Microsome membrane;Endoplasmic reticulum membrane Rickets vitamin D-dependent 1B Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3). NA Belongs to the cytochrome P450 family. Hormone biosynthesis; vitamin D biosynthesis.;Steroid biosynthesis;Metabolic pathways;Vitamin D (calciferol) metabolism;Vitamins;Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B) PE1 11 +NX_Q6VY07 Phosphofurin acidic cluster sorting protein 1 963 104898 7.6 0 trans-Golgi network;Cytosol;Cytoskeleton Schuurs-Hoeijmakers syndrome Coat protein that is involved in the localization of trans-Golgi network (TGN) membrane proteins that contain acidic cluster sorting motifs. Controls the endosome-to-Golgi trafficking of furin and mannose-6-phosphate receptor by connecting the acidic-cluster-containing cytoplasmic domain of these molecules with the adapter-protein complex-1 (AP-1) of endosomal clathrin-coated membrane pits. Involved in HIV-1 nef-mediated removal of MHC-I from the cell surface to the TGN. NA Belongs to the PACS family. Nef mediated downregulation of MHC class I complex cell surface expression PE1 11 +NX_Q6W0C5 Developmental pluripotency-associated protein 3 159 17851 8.86 0 Cytoplasm;Nucleus NA Primordial germ cell (PGCs)-specific protein involved in epigenetic chromatin reprogramming in the zygote following fertilization. In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the adjacent maternal pronucleus and certain paternally-imprinted loci are protected from this process. Participates in protection of DNA methylation in the maternal pronucleus by preventing conversion of 5mC to 5hmC: specifically recognizes and binds histone H3 dimethylated at 'Lys-9' (H3K9me2) on maternal genome, and protects maternal genome from TET3-mediated conversion to 5hmC and subsequent DNA demethylation. Does not bind paternal chromatin, which is mainly packed into protamine and does not contain much H3K9me2 mark. Also protects imprinted loci that are marked with H3K9me2 in mature sperm from DNA demethylation in early embryogenesis. May be important for the totipotent/pluripotent states continuing through preimplantation development. Also involved in chromatin condensation in oocytogenesis (By similarity). NA NA NA PE1 12 +NX_Q6W2J9 BCL-6 corepressor 1755 192189 6.06 0 Nucleoplasm;Nucleus Microphthalmia, syndromic, 2 Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. Involved in the repression of TFAP2A; impairs binding of BCL6 and KDM2B to TFAP2A promoter regions. Via repression of TFAP2A acts as a negative regulator of osteo-dentiogenic capacity in adult stem cells; the function implies inhibition of methylation on histone H3 'Lys-4' (H3K4me3) and 'Lys-36' (H3K36me2). NA Belongs to the BCOR family. NA PE1 X +NX_Q6W349 Putative uncharacterized protein encoded by LINC00575 94 10157 5.34 0 NA NA NA NA NA NA PE5 4 +NX_Q6W3E5 Glycerophosphodiester phosphodiesterase domain-containing protein 4 623 71996 9.16 6 Membrane NA NA NA Belongs to the glycerophosphoryl diester phosphodiesterase family. NA PE2 11 +NX_Q6W4X9 Mucin-6 2439 257051 7.22 0 Secreted NA May provide a mechanism for modulation of the composition of the protective mucus layer related to acid secretion or the presence of bacteria and noxious agents in the lumen. Plays an important role in the cytoprotection of epithelial surfaces and are used as tumor markers in a variety of cancers. May play a role in epithelial organogenesis. O-glycosylated. NA O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1) PE1 11 +NX_Q6W5P4 Neuropeptide S receptor 371 42687 8.63 7 Cytoplasm;Cell membrane Asthma-related traits 2 G-protein coupled receptor for neuropeptide S (NPS) (PubMed:16790440). Promotes mobilization of intracellular Ca(2+) stores (PubMed:16790440). Inhibits cell growth in response to NPS binding (PubMed:15947423). Involved in pathogenesis of asthma and other IgE-mediated diseases. NA Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily. Peptide ligand-binding receptors;G alpha (q) signalling events;G alpha (s) signalling events PE1 7 +NX_Q6WBX8 Cell cycle checkpoint control protein RAD9B 426 47832 6.47 0 NA NA NA NA Belongs to the rad9 family. Activation of ATR in response to replication stress;G2/M DNA damage checkpoint;HDR through Single Strand Annealing (SSA);Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Regulation of TP53 Activity through Phosphorylation PE1 12 +NX_Q6WCQ1 Myosin phosphatase Rho-interacting protein 1025 116533 5.89 0 Cytosol;Cytoskeleton NA Targets myosin phosphatase to the actin cytoskeleton. Required for the regulation of the actin cytoskeleton by RhoA and ROCK1. Depletion leads to an increased number of stress fibers in smooth muscle cells through stabilization of actin fibers by phosphorylated myosin. Overexpression of MRIP as well as its F-actin-binding region leads to disassembly of stress fibers in neuronal cells. NA NA Signaling by BRAF and RAF fusions PE1 17 +NX_Q6WKZ4 Rab11 family-interacting protein 1 1283 137167 5.3 0 Recycling endosome;Phagosome membrane;Cytoplasmic vesicle NA A Rab11 effector protein involved in the endosomal recycling process. Also involved in controlling membrane trafficking along the phagocytic pathway and in phagocytosis. NA NA Endocytosis PE1 8 +NX_Q6WN34 Chordin-like protein 2 429 47495 8.23 0 Cytoplasm;Secreted NA May inhibit BMPs activity by blocking their interaction with their receptors. Has a negative regulator effect on the cartilage formation/regeneration from immature mesenchymal cells, by preventing or reducing the rate of matrix accumulation (By similarity). Implicated in tumor angiogenesis. May play a role during myoblast and osteoblast differentiation, and maturation. Phosphorylated by FAM20C in the extracellular medium. NA NA PE1 11 +NX_Q6WQI6 Putative cancer susceptibility gene HEPN1 protein 88 10305 8.04 0 Golgi apparatus;Cytoplasm NA NA NA NA NA PE5 11 +NX_Q6WRI0 Immunoglobulin superfamily member 10 2623 290838 9.25 0 Nucleoplasm;Secreted;Cytoskeleton NA Involved in the control of early migration of neurons expressing gonadotropin-releasing hormone (GNRH neurons) (By similarity). May be involved in the maintenance of osteochondroprogenitor cells pool (By similarity). NA NA NA PE1 3 +NX_Q6WRX3 Protein zyg-11 homolog A 759 85808 8.3 0 Nucleoplasm NA Probably acts as target recruitment subunit in an E3 ubiquitin ligase complex ZYGA-CUL2-elongin BC. NA Belongs to the zyg-11 family. NA PE1 1 +NX_Q6X4T0 Uncharacterized protein C12orf54 127 14485 8.66 0 Cytoskeleton NA NA NA NA NA PE2 12 +NX_Q6X4U4 Sclerostin domain-containing protein 1 206 23307 9.81 0 Secreted NA May be involved in the onset of endometrial receptivity for implantation/sensitization for the decidual cell reaction Enhances Wnt signaling and inhibits TGF-beta signaling (By similarity). Directly antagonizes activity of BMP2, BMP4, BMP6 and BMP7 in a dose-dependent manner. NA Belongs to the sclerostin family. NA PE1 7 +NX_Q6X4W1 NMDA receptor synaptonuclear signaling and neuronal migration factor 530 60143 9.19 0 Cytoplasm;Cell cortex;Synaptosome;Cell membrane;Nucleus matrix;Nucleus membrane;Membrane;Nucleoplasm;Nucleus envelope;Postsynaptic density;Synapse;Dendrite;Nucleus;Cytoskeleton Hypogonadotropic hypogonadism 9 with or without anosmia Couples NMDA-sensitive glutamate receptor signaling to the nucleus and triggers long-lasting changes in the cytoarchitecture of dendrites and spine synapse processes. Part of the cAMP response element-binding protein (CREB) shut-off signaling pathway. Stimulates outgrowth of olfactory axons and migration of gonadotropin-releasing hormone (GnRH) and luteinizing-hormone-releasing hormone (LHRH) neuronal cells. Proteolytically processed after NMDA receptor activation. Cleaved in a calcium-dependent and calpain-sensitive manner. Calpain cleavage is essential for the translocation process from dendrites to the nucleus (By similarity). Belongs to the NSMF family. NA PE1 9 +NX_Q6X784 Zona pellucida-binding protein 2 338 38652 8.04 0 Secreted;Acrosome NA Is implicated in sperm-oocyte interaction during fertilization. N-glycosylated. Belongs to the zona pellucida-binding protein Sp38 family. NA PE1 17 +NX_Q6X9E4 F-box/WD repeat-containing protein 12 464 53056 7.85 0 NA NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 3 +NX_Q6XCG6 Putative uncharacterized protein PP632 107 11455 7.94 0 NA NA NA NA NA NA PE4 1 +NX_Q6XD76 Achaete-scute homolog 4 172 19253 9.23 0 Nucleus NA Could be a transcriptional regulator involved in skin development. NA NA NA PE1 12 +NX_Q6XE24 RNA-binding motif, single-stranded-interacting protein 3 437 47840 8.12 0 Cytoplasm;Cytoplasmic vesicle NA Binds poly(A) and poly(U) oligoribonucleotides. NA NA NA PE1 3 +NX_Q6XE38 Secretoglobin family 1D member 4 83 9201 9.14 0 Secreted NA Seems to be involved in the regulation of chemotactic cell migration and invasion. NA Belongs to the secretoglobin family. Lipophilin subfamily. NA PE1 11 +NX_Q6XLA1 Protein CASC2, isoform 3 102 11902 8.53 0 NA NA May act as a potential tumor suppressor. NA NA NA PE2 10 +NX_Q6XPR3 Repetin 784 90731 6.42 0 Extracellular matrix NA Involved in the cornified cell envelope formation. Multifunctional epidermal matrix protein. Reversibly binds calcium. Potential substrate of transglutaminase. Some arginines are probably converted to citrullines by peptidylarginine deimidase. Belongs to the S100-fused protein family. Formation of the cornified envelope PE1 1 +NX_Q6XPS3 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 522 61112 8.8 3 Cytoplasm;Endoplasmic reticulum membrane;Golgi apparatus membrane NA Acts as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring from phosphatidylinositol 3,4,5-trisphosphate.;Shows no phosphoinositide phosphatase activity. NA NA Synthesis of PIPs at the Golgi membrane PE1 13 +NX_Q6XQN6 Nicotinate phosphoribosyltransferase 538 57578 5.51 0 Golgi apparatus;Nucleoplasm;Cytosol NA Catalyzes the first step in the biosynthesis of NAD from nicotinic acid, the ATP-dependent synthesis of beta-nicotinate D-ribonucleotide from nicotinate and 5-phospho-D-ribose 1-phosphate (PubMed:17604275, PubMed:21742010, PubMed:26042198). Helps prevent cellular oxidative stress via its role in NAD biosynthesis (PubMed:17604275). Transiently phosphorylated on a His residue during the reaction cycle. Phosphorylation strongly increases the affinity for substrates and increases the rate of nicotinate D-ribonucleotide production. Dephosphorylation regenerates the low-affinity form of the enzyme, leading to product release. Belongs to the NAPRTase family. Cofactor biosynthesis; NAD(+) biosynthesis; nicotinate D-ribonucleotide from nicotinate: step 1/1.;Nicotinate and nicotinamide metabolism;Metabolic pathways;Nicotinamide salvaging;Neutrophil degranulation PE1 8 +NX_Q6XR72 Zinc transporter 10 485 52684 6.28 6 trans-Golgi network;Recycling endosome;Early endosome;Cell membrane Hypermanganesemia with dystonia 1 Plays a pivotal role in manganese transport. Manganese is an essential cation for the function of several enzymes, including some crucially important for the metabolism of neurotransmitters and other neuronal metabolic pathways. However, elevated levels of manganese are cytotoxic and induce oxidative stress, mitochondrial dysfunction and apoptosis. Acts as manganese efflux transporter and confers protection against manganese-induced cell death (PubMed:22341972, PubMed:22341971, PubMed:25319704, PubMed:27226609, PubMed:27307044). Also acts as zinc transporter involved in zinc homeostasis. Seems to mediate zinc transport into early endosomes and recycling endosomes to prevent zinc toxicity; the function may be regulated by heterodimerization with other zinc transporters of the SLC30A subfamily. The SLC30A3:SLC30A10 heterodimer is involved in zinc transport-dependent regulation of the EGFR/ERK transduction pathway in endosomes. May be involved in regulation of zinc-dependent senescence of vascular smooth muscle cells (PubMed:22706290, PubMed:22427991, PubMed:26728129). NA Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. Metal ion SLC transporters PE1 1 +NX_Q6XUX3 Dual serine/threonine and tyrosine protein kinase 929 105206 6.29 0 Cytoplasm;Nucleus speckle;Cell membrane;Basolateral cell membrane;Cell junction;Apical cell membrane;Cytoskeleton Spastic paraplegia 23, autosomal recessive;Congenital anomalies of the kidney and urinary tract 1 Acts as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor-receptor activation (PubMed:23862974, PubMed:28157540). Involved in the regulation of both caspase-dependent apoptosis and caspase-independent cell death (PubMed:15178406). In the skin, it plays a predominant role in suppressing caspase-dependent apoptosis in response to UV stress in a range of dermal cell types (PubMed:28157540). NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. NA PE1 1 +NX_Q6XXX2 Putative uncharacterized protein encoded by LINC00114 140 15753 9.79 0 NA NA NA NA NA NA PE5 21 +NX_Q6XYB7 Transcription factor LBX2 198 21482 8.95 0 Nucleoplasm;Nucleus;Midbody NA Putative transcription factor. NA NA NA PE2 2 +NX_Q6XYQ8 Synaptotagmin-10 523 59127 7.57 1 Cytoplasmic vesicle;Nucleoplasm;Secretory vesicle membrane NA Ca(2+) sensor specifically required for the Ca(2+)-dependent exocytosis of secretory vesicles containing IGF1 in neurons of the olfactory bulb. Exocytosis of IGF1 is required for sensory perception of smell. Not involved in Ca(2+)-dependent synaptic vesicle exocytosis (By similarity). Acts through Ca(2+) and phospholipid binding to the C2 domain: Ca(2+) induces binding of the C2-domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis (By similarity). NA Belongs to the synaptotagmin family. Neurexins and neuroligins PE1 12 +NX_Q6XZB0 Lipase member I 460 52922 9.18 0 Membrane;Secreted Hypertriglyceridemia, familial Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG). NA Belongs to the AB hydrolase superfamily. Lipase family. Synthesis of PA PE1 21 +NX_Q6XZF7 Dynamin-binding protein 1577 177347 5.26 0 Golgi apparatus;Cytoplasm;Cell junction;Nucleolus;Synapse;Cytosol;Golgi stack;Nucleus;Cytoskeleton Cataract 48 Plays a critical role as a guanine nucleotide exchange factor (GEF) for CDC42 in several intracellular processes associated with the actin and microtubule cytoskeleton. Regulates the structure of apical junctions through F-actin organization in epithelial cells (PubMed:19767742, PubMed:17015620). Participates in the normal lumenogenesis of epithelial cell cysts by regulating spindle orientation (PubMed:20479467). Play a role in ciliogenesis (By similarity). May play a role in membrane trafficking between the cell surface and the Golgi (By similarity). NA NA NA PE1 10 +NX_Q6Y1H2 Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 254 28368 9.56 6 Endoplasmic reticulum membrane NA Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. NA Belongs to the very long-chain fatty acids dehydratase HACD family. Lipid metabolism; fatty acid biosynthesis.;Fatty acid elongation;Biosynthesis of unsaturated fatty acids;Synthesis of very long-chain fatty acyl-CoAs PE1 3 +NX_Q6Y288 Beta-1,3-glucosyltransferase 498 56564 7.23 1 Endoplasmic reticulum membrane Peters-plus syndrome O-glucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan. NA Belongs to the glycosyltransferase 31 family. Protein modification; protein glycosylation.;Other types of O-glycan biosynthesis;O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 13 +NX_Q6Y2X3 DnaJ homolog subfamily C member 14 702 78569 8.37 3 Endoplasmic reticulum membrane NA Regulates the export of target proteins, such as DRD1, from the endoplasmic reticulum to the cell surface. NA NA NA PE1 12 +NX_Q6Y7W6 GRB10-interacting GYF protein 2 1299 150070 5.45 0 Cytosol Parkinson disease 11 Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:22751931). In 4EHP-GYF2 the complex, acts as a factor that bridges EIF4E2 to ZFP36/TTP, linking translation repression with mRNA decay (By similarity). May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors (PubMed:12771153). NA Belongs to the GIGYF family. NA PE1 2 +NX_Q6YBV0 Proton-coupled amino acid transporter 4 504 56157 6.6 10 Membrane;Golgi apparatus;Cytosol;Cell membrane NA Functions as a sodium-independent electroneutral transporter for tryptophan, proline and alanine. Inhibited by sarcosine. NA Belongs to the amino acid/polyamine transporter 2 family. Tryptophan catabolism;Amino acid transport across the plasma membrane PE1 11 +NX_Q6YFQ2 Cytochrome c oxidase subunit 6B2 88 10529 9.21 0 Nucleoplasm;Cytosol;Mitochondrion intermembrane space;Cell membrane NA Connects the two COX monomers into the physiological dimeric form. NA Belongs to the cytochrome c oxidase subunit 6B family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease PE1 19 +NX_Q6YHK3 CD109 antigen 1445 161689 5.59 0 Endoplasmic reticulum;Cell membrane NA Modulates negatively TGFB1 signaling in keratinocytes. N-glycosylated.;2 forms of 150 (p150) and 120 kDa (p120) exist due to proteolytic degradation from a 180 kDa form. Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family. Platelet degranulation;Post-translational modification: synthesis of GPI-anchored proteins PE1 6 +NX_Q6YHU6 Thyroid adenoma-associated protein 1953 219607 5.71 0 Cytosol NA NA NA Belongs to the THADA family. tRNA modification in the nucleus and cytosol PE1 2 +NX_Q6YI46 Transmembrane protein 64 380 39665 8.78 6 Membrane;Endoplasmic reticulum NA Positively regulates TNFSF11-induced osteoclast differentiation. Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with SERCA2 which is critical for the TNFSF11-induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic Ca (2+) spiking for activation of NFATC1 and production of mitochondrial ROS, thereby triggering Ca (2+) signaling cascades that promote osteoclast differentiation and activation. Negatively regulates osteoblast differentiation and positively regulates adipocyte differentiation via modulation of the canonical Wnt signaling pathway. Mediates the switch in lineage commitment to osteogenesis rather than to adipogenesis in mesenchymal stem cells by negatively regulating the expression, activity and nuclear localization of CTNNB1. NA Belongs to the TVP38/TMEM64 family. NA PE1 8 +NX_Q6YN16 Hydroxysteroid dehydrogenase-like protein 2 418 45395 8.07 0 Peroxisome;Mitochondrion NA Has apparently no steroid dehydrogenase activity. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. NA PE1 9 +NX_Q6YP21 Kynurenine--oxoglutarate transaminase 3 454 51400 8.4 0 Cytosol;Nucleolus NA Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). May catalyze the beta-elimination of S-conjugates and Se-conjugates of L-(seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond (By similarity). Has transaminase activity towards L-kynurenine, tryptophan, phenylalanine, serine, cysteine, methionine, histidine, glutamine and asparagine with glyoxylate as an amino group acceptor (in vitro). Has lower activity with 2-oxoglutarate as amino group acceptor (in vitro) (By similarity). NA Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Tryptophan metabolism;Selenocompound metabolism;Metabolic pathways;Tryptophan catabolism PE1 1 +NX_Q6ZMB0 Acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase 384 42748 7.65 1 Golgi apparatus membrane NA Beta-1,3-N-acetylglucosaminyltransferase that synthesizes the core 3 structure of the O-glycan, an important precursor in the biosynthesis of mucin-type glycoproteins. Plays an important role in the synthesis of mucin-type O-glycans in digestive organs. NA Belongs to the glycosyltransferase 31 family. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 11 +NX_Q6ZMB5 Transmembrane protein 184A 413 45777 8.4 7 Cell membrane;Nucleoplasm;Endosome;Cytoplasmic vesicle membrane;Secretory vesicle membrane;Early endosome membrane;Perinuclear region NA Acts as a heparin receptor in vascular cells (By similarity). May be involved in vesicle transport in exocrine cells and Sertoli cells (By similarity). NA Belongs to the TMEM184 family. NA PE1 7 +NX_Q6ZMC9 Sialic acid-binding Ig-like lectin 15 328 35653 8.86 1 Membrane;Nucleoplasm;Golgi apparatus NA Binds sialylated glycoproteins. NA Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. DAP12 interactions PE1 18 +NX_Q6ZMD2 Protein spinster homolog 3 512 54769 6.14 12 Membrane NA Sphingolipid transporter. NA Belongs to the major facilitator superfamily. Spinster (TC 2.A.1.49) family. NA PE1 17 +NX_Q6ZMG9 Ceramide synthase 6 384 44890 7.56 5 Nucleoplasm;Endoplasmic reticulum membrane NA Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward palmitoyl-CoA (hexadecanoyl-CoA; C16:0-CoA) as acyl donor (PubMed:17977534, PubMed:17609214, PubMed:23530041, PubMed:26887952). Can use other acyl donors, but with less efficiency (By similarity). Ceramides generated by CERS6 play a role in inflammatory response (By similarity). Acts as a regulator of metabolism and hepatic lipid accumulation (By similarity). Under high fat diet, palmitoyl- (C16:0-) ceramides generated by CERS6 specifically bind the mitochondrial fission factor MFF, thereby promoting mitochondrial fragmentation and contributing to the development of obesity (By similarity). Phosphorylated at the C-terminus by CK2.;Acetylated. Deacetylation by SIRT3 increases enzyme activity and promotes mitochondrial ceramide accumulation. NA Lipid metabolism; sphingolipid metabolism.;Sphingolipid de novo biosynthesis PE1 2 +NX_Q6ZMH5 Zinc transporter ZIP5 540 56461 6.33 6 Nucleoplasm;Basolateral cell membrane;Cytoplasmic vesicle Myopia 24, autosomal dominant May play a role in polarized cells by carrying out serosal-to-mucosal zinc transport. Plays a role in eye development. Could regulate the BMP/TGF-beta (bone morphogenetic protein/transforming growth factor-beta) signaling pathway and modulates extracellular matrix (ECM) proteins of the sclera (PubMed:24891338). Seems to play a central role in controlling organismal zinc status (By similarity). Glycosylated. Belongs to the ZIP transporter (TC 2.A.5) family. Zinc influx into cells by the SLC39 gene family PE1 12 +NX_Q6ZMI0 Protein phosphatase 1 regulatory subunit 21 780 88314 6.4 0 Nucleoplasm;Early endosome;Cytoplasmic vesicle NA Putative regulator of protein phosphatase 1 (PP1) activity (PubMed:19389623). May play a role in the endosomal sorting process or in endosome maturation pathway (PubMed:30520571). NA NA NA PE1 2 +NX_Q6ZMI3 Gliomedin 551 58957 8.1 1 Axon;Extracellular matrix;Secreted;Cell membrane Lethal congenital contracture syndrome 11 Ligand for NRCAM and NFASC/neurofascin that plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Mediates interaction between Schwann cell microvilli and axons via its interactions with NRCAM and NFASC. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with NRCAM, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier. Proteolytic proccessing by a furin-like protease causes shedding of the ectodomain. Further cleavage by BMP1 releases the olfactomedin-like domain.;N-glycosylated. NA NA PE1 15 +NX_Q6ZMJ2 Scavenger receptor class A member 5 495 53994 6.65 1 Cell membrane NA Ferritin receptor that mediates non-transferrin-dependent delivery of iron. Mediates cellular uptake of ferritin-bound iron by stimulating ferritin endocytosis from the cell surface with consequent iron delivery within the cell. Delivery of iron to cells by ferritin is required for the development of specific cell types, suggesting the existence of cell type-specific mechanisms of iron traffic in organogenesis, which alternatively utilize transferrin or non-transferrin iron delivery pathways. Ferritin mediates iron uptake in capsule cells of the developing kidney. Binds preferrentially ferritin light chain (FTL) compared to heavy chain (FTH1). NA Belongs to the SCARA5 family. Scavenging by Class A Receptors PE1 8 +NX_Q6ZMJ4 Interleukin-34 242 27482 6.82 0 Secreted NA Cytokine that promotes the proliferation, survival and differentiation of monocytes and macrophages. Promotes the release of proinflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, and in the regulation of bone resorption. Signaling via CSF1R and its downstream effectors stimulates phosphorylation of MAPK1/ERK2 AND MAPK3/ERK1. NA Belongs to the IL-34 family. Other interleukin signaling PE1 16 +NX_Q6ZMK1 Cysteine and histidine-rich protein 1 362 40703 6.87 0 Cytoplasm;Nucleoplasm;Perinuclear region NA NA NA Belongs to the CYHR1 family. NA PE1 8 +NX_Q6ZMM2 ADAMTS-like protein 5 481 53193 8.59 0 Golgi apparatus;Extracellular matrix;Secreted NA May play a role in modulation of fibrillin microfibrils in the extracellular matrix (ECM). Proteolytically cleaved to release a C-terminal fragment containing the NTR domain.;Contains at least one additional N-linked glycosylation site. NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 19 +NX_Q6ZMN7 PDZ domain-containing RING finger protein 4 1036 117103 5.61 0 NA NA NA NA NA NA PE1 12 +NX_Q6ZMN8 Cyclin-I2 369 40622 8.07 0 Golgi apparatus;Nucleoplasm;Cytosol NA NA NA Belongs to the cyclin family. NA PE1 5 +NX_Q6ZMP0 Thrombospondin type-1 domain-containing protein 4 1018 112450 7.94 0 Extracellular matrix NA Promotes FBN1 matrix assembly. Attenuates TGFB signaling, possibly by accelerating the sequestration of large latent complexes of TGFB or active TGFB by FBN1 microfibril assembly, thereby negatively regulating the expression of TGFB regulatory targets, such as POSTN (By similarity). NA NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 15 +NX_Q6ZMQ8 Serine/threonine-protein kinase LMTK1 1374 144569 4.48 1 Membrane;Cytoplasm;Mitochondrion;Perinuclear region NA May be involved in neuronal differentiation. Autophosphorylated. Phosphorylated by CDK5.;Autophosphorylated (Phosphoserine,Phosphotyrosine:PTM-0253,PTM-0255) Belongs to the protein kinase superfamily. Tyr protein kinase family. NA PE1 17 +NX_Q6ZMR3 L-lactate dehydrogenase A-like 6A 332 36507 6.51 0 Cytoplasm NA Displays an lactate dehydrogenase activity. Significantly increases the transcriptional activity of JUN, when overexpressed. NA Belongs to the LDH/MDH superfamily. LDH family. Fermentation; pyruvate fermentation to lactate; (S)-lactate from pyruvate: step 1/1.;Glycolysis / Gluconeogenesis;Cysteine and methionine metabolism;Pyruvate metabolism;Propanoate metabolism;Metabolic pathways;Pyruvate metabolism PE1 11 +NX_Q6ZMR5 Transmembrane protease serine 11A 421 47569 9.32 1 Membrane NA Probable serine protease which may play a role in cellular senescence. Overexpression inhibits cell growth and induce G1 cell cycle arrest. NA Belongs to the peptidase S1 family. NA PE1 4 +NX_Q6ZMS4 Zinc finger protein 852 543 62084 8.45 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 3 +NX_Q6ZMS7 Protein ZNF783 281 31422 4.9 0 Cytosol;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA NA NA PE1 7 +NX_Q6ZMT1 SH3 and cysteine-rich domain-containing protein 2 411 45009 7.03 0 Cytosol;Sarcolemma;Cell membrane NA Plays a redundant role in promoting the expression of calcium channel CACNA1S at the cell membrane, and thereby contributes to increased channel activity. Slows down the inactivation rate of the calcium channel CACNA1C. NA NA NA PE1 17 +NX_Q6ZMT4 Lysine-specific demethylase 7A 941 106557 8.34 0 Nucleoplasm;Nucleolus;Nucleus NA Histone demethylase required for brain development. Specifically demethylates dimethylated 'Lys-9' and 'Lys-27' (H3K9me2 and H3K27me2, respectively) of histone H3 and monomethylated histone H4 'Lys-20' residue (H4K20Me1), thereby playing a central role in histone code. Specifically binds trimethylated 'Lys-4' of histone H3 (H3K4me3), affecting histone demethylase specificity: in presence of H3K4me3, it has no demethylase activity toward H3K9me2, while it has high activity toward H3K27me2. Demethylates H3K9me2 in absence of H3K4me3. Has activity toward H4K20Me1 only when nucleosome is used as a substrate and when not histone octamer is used as substrate. NA Belongs to the JHDM1 histone demethylase family. JHDM1D subfamily. HDMs demethylate histones;Signaling by BRAF and RAF fusions PE1 7 +NX_Q6ZMT9 Death domain-containing protein 1 781 88329 6.81 0 NA NA NA NA NA NA PE1 4 +NX_Q6ZMU1 Putative protein C3P1 363 40197 6.32 0 NA NA NA NA NA NA PE5 19 +NX_Q6ZMU5 Tripartite motif-containing protein 72 477 52731 6.05 0 Nucleoplasm;Sarcolemma;Cytoplasmic vesicle membrane;Cytoplasmic vesicle NA Muscle-specific protein that plays a central role in cell membrane repair by nucleating the assembly of the repair machinery at injury sites. Specifically binds phosphatidylserine. Acts as a sensor of oxidation: upon membrane damage, entry of extracellular oxidative environment results in disulfide bond formation and homooligomerization at the injury site. This oligomerization acts as a nucleation site for recruitment of TRIM72-containing vesicles to the injury site, leading to membrane patch formation. Probably acts upstream of the Ca(2+)-dependent membrane resealing process. Required for transport of DYSF to sites of cell injury during repair patch formation. Regulates membrane budding and exocytosis. May be involved in the regulation of the mobility of KCNB1-containing endocytic vesicles (By similarity). Disulfide bond formation at Cys-242 occurs in case of membrane damage that cause the entry of the oxidized milieu of the extracellular space, resulting in homooligomerization.;S-nitrosylation at Cys-144 stabilizes TRIM72 and protects against oxidation-induced protein degradation and cell death. Belongs to the TRIM/RBCC family. Smooth Muscle Contraction PE1 16 +NX_Q6ZMV5 Protein PPP4R3C 832 95804 4.72 0 NA NA NA NA Belongs to the SMEK family. NA PE1 X +NX_Q6ZMV7 Leucine-, glutamate- and lysine-rich protein 1 388 45158 6.29 0 NA NA NA NA NA NA PE2 3 +NX_Q6ZMV8 Putative zinc finger protein 730 503 59040 9.48 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 19 +NX_Q6ZMV9 Kinesin-like protein KIF6 814 92569 6.47 0 Centrosome;Cytoskeleton NA NA NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 6 +NX_Q6ZMW2 Zinc finger protein 782 699 80904 9.21 0 Nucleoplasm;Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 9 +NX_Q6ZMW3 Echinoderm microtubule-associated protein-like 6 1958 217899 7.17 0 Cytoplasmic vesicle;Mitochondrion;Cytoskeleton NA May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic. NA Belongs to the WD repeat EMAP family. NA PE1 2 +NX_Q6ZMY3 SPOC domain-containing protein 1 1216 130027 6.82 0 Nucleoplasm;Cytosol;Nucleolus NA NA NA NA NA PE1 1 +NX_Q6ZMY6 WD repeat-containing protein 88 472 52621 6.98 0 Golgi apparatus;Nucleoplasm NA NA NA NA NA PE1 19 +NX_Q6ZMY9 Zinc finger protein 517 492 54711 9.26 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 8 +NX_Q6ZMZ0 E3 ubiquitin-protein ligase RNF19B 732 77925 5.81 2 Cytosol;Cytoplasmic granule membrane;Endoplasmic reticulum membrane NA E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as UCKL1 (PubMed:16709802, PubMed:27485036). Involved in the cytolytic activity of natural killer cells and cytotoxic T-cells (PubMed:10438909). Protects against staurosporin-induced cell death (PubMed:27485036). NA Belongs to the RBR family. RNF19 subfamily. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 1 +NX_Q6ZMZ3 Nesprin-3 975 112216 5.88 1 Nucleus outer membrane;Nucleus envelope;Nucleus membrane;Rough endoplasmic reticulum NA As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Probable anchoring protein which tethers the nucleus to the cytoskeleton by binding PLEC which can associate with the intermediate filament system. Plays a role in the regulation of aortic epithelial cell morphology, and is required for flow-induced centrosome polarization and directional migration in aortic endothelial cells. The disulfid bond with SUN1 or SUN2 is required for stability of the respective LINC complex under tensile forces. Belongs to the nesprin family. NA PE1 14 +NX_Q6ZN01 MEF2-activating motif and SAP domain-containing transcriptional regulator 415 44632 6.57 0 Nucleus speckle;Nucleus NA Transcriptional coactivator. Stimulates the transcriptional activity of MEF2C. Stimulates MYOD1 activity in part via MEF2, resulting in an enhancement of skeletal muscle differentiation (By similarity). NA NA NA PE1 19 +NX_Q6ZN03 Putative uncharacterized protein encoded by LINC00322 302 32374 9.1 0 NA NA NA NA NA NA PE5 21 +NX_Q6ZN04 RNA-binding protein MEX3B 569 58832 6.44 0 Cytoplasm;Nucleoplasm;P-body;Cytosol;Cytoplasmic granule;Nucleus NA RNA-binding protein. May be involved in post-transcriptional regulatory mechanisms. Phosphorylation at Ser-462 creates a docking site for 14-3-3, which stabilizes the protein and modulates its ability to bind RNA. NA NA PE1 15 +NX_Q6ZN06 Zinc finger protein 813 617 71721 9.5 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q6ZN08 Putative zinc finger protein 66 573 65874 9.46 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE5 19 +NX_Q6ZN11 Zinc finger protein 793 406 46927 9.48 0 Nucleus;Nucleoplasm;Cytosol;Nucleolus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 19 +NX_Q6ZN16 Mitogen-activated protein kinase kinase kinase 15 1313 147437 5.42 0 Cytoplasmic vesicle NA May function in a signal transduction pathway that is activated by various cell stresses and leads to apoptosis. NA Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. NA PE1 X +NX_Q6ZN17 Protein lin-28 homolog B 250 27084 9.15 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Has no effect on cell growth.;Suppressor of microRNA (miRNA) biogenesis, including that of let-7 and possibly of miR107, miR-143 and miR-200c. Binds primary let-7 transcripts (pri-let-7), including pri-let-7g and pri-let-7a-1, and sequester them in the nucleolus, away from the microprocessor complex, hence preventing their processing into mature miRNA (PubMed:22118463). Does not act on pri-miR21 (PubMed:22118463). The repression of let-7 expression is required for normal development and contributes to maintain the pluripotent state of embryonic stem cells by preventing let-7-mediated differentiation. When overexpressed, recruits ZCCHC11/TUT4 uridylyltransferase to pre-let-7 transcripts, leading to their terminal uridylation and degradation (PubMed:19703396). This activity might not be relevant in vivo, as LIN28B-mediated inhibition of let-7 miRNA maturation appears to be ZCCHC11-independent (PubMed:22118463). Interaction with target pre-miRNAs occurs via an 5'-GGAG-3' motif in the pre-miRNA terminal loop. Mediates MYC-induced let-7 repression (By similarity). When overexpressed, isoform 1 stimulates growth of the breast adenocarcinoma cell line MCF-7. NA Belongs to the lin-28 family. NA PE1 6 +NX_Q6ZN18 Zinc finger protein AEBP2 517 54467 5.1 0 Nucleoplasm;Nucleus NA DNA-binding transcriptional repressor. May interact with and stimulate the activity of the PRC2 complex, which methylates 'Lys-9' and 'Lys-27' residues of histone H3. NA Belongs to the AEBP2/jing C2H2-type zinc-finger family. PKMTs methylate histone lysines;PRC2 methylates histones and DNA PE1 12 +NX_Q6ZN19 Zinc finger protein 841 808 93148 9.48 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q6ZN28 Metastasis-associated in colon cancer protein 1 852 96639 6.43 0 Cytoplasm;Mitochondrion;Nucleus NA Acts as a transcription activator for MET and as a key regulator of HGF-MET signaling. Promotes cell motility, proliferation and hepatocyte growth factor (HGF)-dependent scattering in vitro and tumor growth and metastasis in vivo. NA NA NA PE1 7 +NX_Q6ZN30 Zinc finger protein basonuclin-2 1099 122330 6.07 0 Nucleoplasm;Nucleus NA Probable transcription factor specific for skin keratinocytes. May play a role in the differentiation of spermatozoa and oocytes. NA NA NA PE1 9 +NX_Q6ZN32 ETS translocation variant 3-like protein 361 39948 9 0 Nucleus NA Transcriptional regulator. NA Belongs to the ETS family. NA PE2 1 +NX_Q6ZN44 Netrin receptor UNC5A 842 92932 6.33 1 Cytosol;Neuron projection;Membrane raft;Cell membrane NA Receptor for netrin required for axon guidance. Functions in the netrin signaling pathway and promotes neurite outgrowth in response to NTN1. Mediates axon repulsion of neuronal growth cones in the developing nervous system in response to netrin. Axon repulsion in growth cones may be mediated by its association with DCC that may trigger signaling for repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. Proteolytically cleaved by caspases during apoptosis. The cleavage does not take place when the receptor is associated with netrin ligand. Its cleavage by caspases is required to induce apoptosis.;Phosphorylated on cytoplasmic tyrosine residues (By similarity). Phosphorylated by PKC in vitro (By similarity). Belongs to the unc-5 family. Axon guidance;Netrin-1 signaling;Caspase activation via Dependence Receptors in the absence of ligand;Netrin mediated repulsion signals PE1 5 +NX_Q6ZN54 Differentially expressed in FDCP 8 homolog 512 58710 6.09 0 Nucleoplasm;Cytosol NA Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts. Involved in bone resorption. NA Belongs to the DEF8 family. NA PE1 16 +NX_Q6ZN55 Zinc finger protein 574 896 98900 8.44 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q6ZN57 Zinc finger protein 2 homolog 461 52740 8.91 0 Nucleus NA Probable transcription factor involved in neuronal differentiation and/or phenotypic maintenance. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 5 +NX_Q6ZN66 Guanylate-binding protein 6 633 72427 5.98 0 NA NA Binds GTP, GDP and GMP. NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily. Interferon gamma signaling PE1 1 +NX_Q6ZN68 Putative C-mannosyltransferase DPY19L2P2 376 43060 8.74 6 Membrane;Endoplasmic reticulum NA Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins. NA Belongs to the dpy-19 family. NA PE5 7 +NX_Q6ZN79 Zinc finger protein 705A 300 34734 9.36 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 12 +NX_Q6ZN84 Coiled-coil domain-containing protein 81 652 76084 9.25 0 Centrosome NA NA NA NA NA PE1 11 +NX_Q6ZN92 Putative inactive deoxyuridine 5'-triphosphate nucleotidohydrolase-like protein FLJ16323 141 15492 7.06 0 NA NA NA NA Belongs to the dUTPase family. NA PE5 9 +NX_Q6ZNA1 Zinc finger protein 836 936 107717 9.39 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q6ZNA4 E3 ubiquitin-protein ligase Arkadia 994 108862 6.67 0 Cytoplasm;Nucleoplasm;PML body;Cytosol;Nucleus NA E3 ubiquitin-protein ligase (PubMed:26656854). Required for mesoderm patterning during embryonic development (By similarity). Acts as an enhancer of the transcriptional responses of the SMAD2/SMAD3 effectors, which are activated downstream of BMP (PubMed:14657019, PubMed:16601693). Acts by mediating ubiquitination and degradation of SMAD inhibitors such as SMAD7, inducing their proteasomal degradation and thereby enhancing the transcriptional activity of TGF-beta and BMP (PubMed:14657019, PubMed:16601693). In addition to enhance transcription of SMAD2/SMAD3 effectors, also regulates their turnover by mediating their ubiquitination and subsequent degradation, coupling their activation with degradation, thereby ensuring that only effectors 'in use' are degraded (By similarity). Activates SMAD3/SMAD4-dependent transcription by triggering signal-induced degradation of SNON isoform of SKIL (PubMed:17591695). Associates with UBE2D2 as an E2 enzyme (PubMed:22411132). Specifically binds polysumoylated chains via SUMO interaction motifs (SIMs) and mediates ubiquitination of sumoylated substrates (PubMed:23751493). Catalyzes 'Lys-63'-linked ubiquitination of sumoylated XPC in response to UV irradiation, promoting nucleotide excision repair (PubMed:23751493). Mediates ubiquitination and degradation of sumoylated PML (By similarity). The regulation of the BMP-SMAD signaling is however independent of sumoylation and is not dependent of SUMO interaction motifs (SIMs) (By similarity). NA Belongs to the Arkadia family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Downregulation of SMAD2/3:SMAD4 transcriptional activity;Formation of Incision Complex in GG-NER PE1 15 +NX_Q6ZNA5 Ferric-chelate reductase 1 592 66114 7.11 7 Membrane NA Ferric-chelate reductases reduce Fe(3+) to Fe(2+) before its transport from the endosome to the cytoplasm. NA Belongs to the FRRS1 family. NA PE1 1 +NX_Q6ZNB5 Putative short transient receptor potential channel 2-like protein 142 15763 8.53 0 Nucleolus NA NA NA Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. NA PE5 11 +NX_Q6ZNB6 NF-X1-type zinc finger protein NFXL1 911 101339 8.85 1 Membrane;Nucleoplasm NA NA NA Belongs to the NFX1 family. NA PE1 4 +NX_Q6ZNB7 Alkylglycerol monooxygenase 445 51500 7.75 5 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA Glyceryl-ether monooxygenase that cleaves the O-alkyl bond of ether lipids. Ether lipids are essential components of brain membranes. NA Belongs to the sterol desaturase family. TMEM195 subfamily. Triglyceride biosynthesis PE1 7 +NX_Q6ZNC4 Zinc finger protein 704 412 45276 8.8 0 Nucleoplasm;Nucleus NA Transcription factor which binds to RE2 sequence elements in the MYOD1 enhancer. NA NA Generic Transcription Pathway PE1 8 +NX_Q6ZNC8 Lysophospholipid acyltransferase 1 495 56557 9.33 9 Membrane NA Acyltransferase which mediates the conversion of lysophosphatidylserine (1-acyl-2-hydroxy-sn-glycero-3-phospho-L-serine or LPS) into phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L-serine or PS) (LPSAT activity). Prefers oleoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. NA Belongs to the membrane-bound acyltransferase family. Lipid metabolism; phospholipid metabolism.;Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Acyl chain remodelling of PS;Acyl chain remodelling of PE PE1 6 +NX_Q6ZNE5 Beclin 1-associated autophagy-related key regulator 492 55309 6.59 0 Autophagosome membrane;Cytoplasm;Preautophagosomal structure membrane;Endoplasmic reticulum membrane NA Required for both basal and inducible autophagy. Determines the localization of the autophagy-specific PI3-kinase complex PI3KC3-C1 (PubMed:18843052, PubMed:19050071). Plays a role in autophagosome formation and MAP1LC3/LC3 conjugation to phosphatidylethanolamine (PubMed:19270696, PubMed:20713597). Promotes BECN1 translocation from the trans-Golgi network to autophagosomes (PubMed:20713597). Enhances PIK3C3 activity in a BECN1-dependent manner. Essential for the autophagy-dependent phosphorylation of BECN1 (PubMed:23878393). Stimulates the phosphorylation of BECN1, but suppresses the phosphorylation PIK3C3 by AMPK (PubMed:23878393). Binds to STX17-SNAP29 binary t-SNARE complex on autophagosomes and primes it for VAMP8 interaction to promote autophagosome-endolysosome fusion (PubMed:25686604). Modulates the hepatic lipid metabolism (By similarity). NA Belongs to the ATG14 family. Macroautophagy PE1 14 +NX_Q6ZNE9 RUN and FYVE domain-containing protein 4 571 64350 6.44 0 Autophagosome NA Positively regulates macroautophagy in primary dendritic cells. Increases autophagic flux, probably by stimulating both autophagosome formation and facilitating tethering with lysosomes. Binds to phosphatidylinositol 3-phosphate (PtdIns3P) through its FYVE-type zinc finger. NA NA NA PE1 2 +NX_Q6ZNF0 Acid phosphatase type 7 438 50480 9.3 0 Secreted NA NA NA Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family. NA PE1 19 +NX_Q6ZNG0 Zinc finger protein 620 422 48503 8.64 0 Centrosome;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 3 +NX_Q6ZNG1 Zinc finger protein 600 722 83124 9.4 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q6ZNG2 Homeobox protein DBX2 339 36555 9.47 0 Nucleus NA NA NA Belongs to the H2.0 homeobox family. NA PE2 12 +NX_Q6ZNG9 KRAB-A domain-containing protein 2 492 56205 5.67 0 Nucleoplasm NA NA NA NA NA PE1 17 +NX_Q6ZNH5 Zinc finger protein 497 498 54721 9.27 0 Nucleoplasm;Cell junction;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q6ZNI0 Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7 430 49319 8.93 1 Golgi apparatus membrane NA Glycosyltransferase. NA Belongs to the glycosyltransferase 14 family. Protein modification; protein glycosylation.;O-linked glycosylation of mucins PE2 20 +NX_Q6ZNJ1 Neurobeachin-like protein 2 2754 302517 5.95 0 Endoplasmic reticulum Gray platelet syndrome Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis. NA Belongs to the WD repeat neurobeachin family. Neutrophil degranulation PE1 3 +NX_Q6ZNK6 TRAF-interacting protein with FHA domain-containing protein B 161 17888 6.96 0 NA NA Inhibits TIFA-mediated TRAF6 activation possibly by inducing a conformational change in TIFA. NA NA NA PE1 5 +NX_Q6ZNL6 FYVE, RhoGEF and PH domain-containing protein 5 1462 159891 4.93 0 Golgi apparatus;Cell membrane;Early endosome;Endoplasmic reticulum;Ruffle membrane;Cytoskeleton NA Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Mediates VEGF-induced CDC42 activation. May regulate proangiogenic action of VEGF in vascular endothelial cells, including network formation, directional movement and proliferation. May play a role in regulating the actin cytoskeleton and cell shape. NA NA NA PE1 3 +NX_Q6ZNM6 Testis-expressed protein 43 134 15452 9.3 0 NA NA NA NA NA NA PE1 5 +NX_Q6ZNQ3 Leucine-rich repeat-containing protein 69 347 39592 8.89 0 Cell membrane NA NA NA Belongs to the LRRC69 family. NA PE1 8 +NX_Q6ZNR0 Transmembrane protein 91 172 18162 4.96 2 Membrane NA NA NA Belongs to the CD225/Dispanin family. NA PE2 19 +NX_Q6ZNW5 GDP-D-glucose phosphorylase 1 385 42362 6.01 0 Cytoplasm;Cytosol NA Specific and highly efficient GDP-D-glucose phosphorylase regulating the levels of GDP-D-glucose in cells. NA Belongs to the GDPGP1 family. NA PE1 15 +NX_Q6ZNX1 Shieldin complex subunit 3 250 28842 9.18 0 Nucleoplasm;Nucleolus;Chromosome NA Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection. Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres. NA NA NA PE1 5 +NX_Q6ZP01 RNA-binding protein 44 1052 118116 5.48 0 Cytoplasm NA Component of intercellular bridges during meiosis. Intercellular bridges are evolutionarily conserved structures that connect differentiating germ cells. Not required for fertility (By similarity). NA NA NA PE1 2 +NX_Q6ZP29 Lysosomal amino acid transporter 1 homolog 291 31947 8.23 7 Cytoplasmic vesicle;Lysosome membrane NA Amino acid transporter that specifically mediates the pH-dependent export of the cationic amino acids arginine, histidine and lysine from lysosomes. NA Belongs to the laat-1 family. Miscellaneous transport and binding events PE1 1 +NX_Q6ZP65 BICD family-like cargo adapter 1 573 64841 4.93 0 Nucleoplasm;Cytosol;Centrosome;Cytoplasmic vesicle NA Component of secretory vesicle machinery in developing neurons that acts as a regulator of neurite outgrowth. Regulates the secretory vesicle transport by controlling the accumulation of Rab6-containing secretory vesicles in the pericentrosomal region restricting anterograde secretory transport during the early phase of neuronal differentiation, thereby inhibiting neuritogenesis (By similarity). NA Belongs to the BICDR family. NA PE1 12 +NX_Q6ZP68 Putative protein ATP11AUN 121 13416 8.66 0 NA NA NA NA NA NA PE2 13 +NX_Q6ZP80 Transmembrane protein 182 229 25879 6.42 3 Membrane;Cytoplasmic vesicle;Nucleoplasm NA NA NA Belongs to the TMEM182 family. NA PE1 2 +NX_Q6ZP82 Coiled-coil domain-containing protein 141 1450 166261 5.41 0 Cytoplasm;Nucleoplasm;Centrosome NA Plays a critical role in radial migration and centrosomal function. NA NA NA PE1 2 +NX_Q6ZP98 Putative uncharacterized protein C16orf47 133 14599 10.17 0 NA NA NA NA NA NA PE2 16 +NX_Q6ZPA2 Putative uncharacterized protein FLJ26174 131 13472 6.7 0 NA NA NA NA NA NA PE2 19 +NX_Q6ZPB5 Stress-responsive DNAJB4-interacting membrane protein 1 146 16112 8.99 2 Membrane NA Promotes neuronal cells survival to stress conditions. NA NA NA PE1 6 +NX_Q6ZPD8 Diacylglycerol O-acyltransferase 2-like protein 6 337 38593 9.87 2 Endoplasmic reticulum membrane NA Diglyceride acyltransferase that uses fatty acyl-CoA as substrate (PubMed:15671038). Particularly active with oleate as a substrate (PubMed:15671038). Has no wax synthase activity to produce wax esters (PubMed:15671038). NA Belongs to the diacylglycerol acyltransferase family. Acyl chain remodeling of DAG and TAG PE1 X +NX_Q6ZPD9 Probable C-mannosyltransferase DPY19L3 716 83197 8.94 12 Membrane;Cytoskeleton NA Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins. NA Belongs to the dpy-19 family. NA PE1 19 +NX_Q6ZQN5 Forkhead box protein I2 318 32979 8.93 0 Nucleus NA Possible transcriptional activator. NA NA NA PE2 10 +NX_Q6ZQN7 Solute carrier organic anion transporter family member 4C1 724 78948 7.67 12 Nucleoplasm;Cytosol;Basolateral cell membrane;Cell membrane NA Organic anion transporter, capable of transporting pharmacological substances such as digoxin, ouabain, thyroxine, methotrexate and cAMP. May participate in the regulation of membrane transport of ouabain. Involved in the uptake of the dipeptidyl peptidase-4 inhibitor sitagliptin and hence may play a role in its transport into and out of renal proximal tubule cells. May be involved in the first step of the transport pathway of digoxin and various compounds into the urine in the kidney. May be involved in sperm maturation by enabling directed movement of organic anions and compounds within or between cells. This ion-transporting process is important to maintain the strict epididymal homeostasis necessary for sperm maturation. May have a role in secretory functions since seminal vesicle epithelial cells are assumed to secrete proteins involved in decapacitation by modifying surface proteins to facilitate the acquisition of the ability to fertilize the egg. NA Belongs to the organo anion transporter (TC 2.A.60) family. Transport of organic anions;Neutrophil degranulation PE1 5 +NX_Q6ZQQ2 Spermatogenesis-associated protein 31D1 1576 175618 9.07 1 Membrane NA May play a role in spermatogenesis. NA Belongs to the SPATA31 family. NA PE1 9 +NX_Q6ZQQ6 WD repeat-containing protein 87 2873 333185 6.94 0 NA NA NA NA NA NA PE1 19 +NX_Q6ZQR2 Cilia- and flagella-associated protein 77 320 36499 10.26 0 Cytosol;Cilium NA NA NA Belongs to the CFAP77 family. NA PE1 9 +NX_Q6ZQT0 Putative uncharacterized protein FLJ45035 140 15498 7.4 0 NA NA NA NA NA NA PE5 4 +NX_Q6ZQT7 Putative uncharacterized protein FLJ44672 251 25248 10.23 0 NA NA NA NA NA NA PE2 10 +NX_Q6ZQV5 Putative KRAB domain-containing protein ZNF788 82 9552 4.56 0 Nucleus NA NA NA NA NA PE5 19 +NX_Q6ZQW0 Indoleamine 2,3-dioxygenase 2 420 47075 6.39 0 NA NA Catalyzes the first and rate limiting step of the catabolism of the essential amino acid tryptophan along the kynurenine pathway (PubMed:17671174). Involved in immune regulation. May not play a significant role in tryptophan-related tumoral resistance (PubMed:25691885). NA Belongs to the indoleamine 2,3-dioxygenase family. Amino-acid degradation; L-tryptophan degradation via kynurenine pathway; L-kynurenine from L-tryptophan: step 1/2.;Tryptophan metabolism;Metabolic pathways;African trypanosomiasis;Tryptophan catabolism PE1 8 +NX_Q6ZQX7 Protein LIAT1 453 49656 7.79 0 Cytosol;Nucleolus NA May be involved in ATE1-mediated N-terminal arginylation. NA NA NA PE1 17 +NX_Q6ZQY2 Leucine-rich repeat-containing protein 74B 392 41621 5.01 0 NA NA NA NA NA NA PE1 22 +NX_Q6ZQY3 Acidic amino acid decarboxylase GADL1 521 59246 5.98 0 Cytosol;Cell membrane NA May catalyze the decarboxylation of L-aspartate, 3-sulfino-L-alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively. Does not exhibit any decarboxylation activity toward glutamate. NA Belongs to the group II decarboxylase family. Degradation of cysteine and homocysteine;Aspartate and asparagine metabolism PE1 3 +NX_Q6ZQY7 Putative uncharacterized protein FLJ46792 126 14345 9.3 0 NA NA NA NA NA NA PE2 15 +NX_Q6ZR03 Uncharacterized protein FLJ46757 302 31336 7.13 0 NA NA NA NA NA NA PE2 21 +NX_Q6ZR08 Dynein heavy chain 12, axonemal 3092 356942 5.85 0 Cilium axoneme NA Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity). NA Belongs to the dynein heavy chain family. NA PE1 3 +NX_Q6ZR37 Pleckstrin homology domain-containing family G member 7 379 44301 8.55 0 NA NA NA NA NA NA PE2 12 +NX_Q6ZR52 Zinc finger protein 493 646 75342 9.44 0 Nucleus NA May be involved in transcriptional regulation. NA NA Generic Transcription Pathway PE2 19 +NX_Q6ZR54 Putative uncharacterized protein FLJ46641 194 19406 10.93 0 NA NA NA NA NA NA PE5 22 +NX_Q6ZR62 Retrotransposon Gag-like protein 4 310 34685 5.5 0 Nucleoplasm;Cytosol;Cell membrane NA Involved in cognitive function in the brain, possibly via the noradrenergic system. NA NA NA PE2 X +NX_Q6ZR85 Uncharacterized protein C17orf107 190 19931 6.91 0 Nucleoplasm NA NA NA NA NA PE1 17 +NX_Q6ZRC1 Uncharacterized protein C4orf50 276 30622 5.57 0 NA NA NA NA NA NA PE2 4 +NX_Q6ZRF7 Putative zinc finger protein 818 136 15513 10.24 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE5 19 +NX_Q6ZRF8 RING finger protein 207 634 70861 6.21 0 Cytoplasm;Cytosol NA Plays a role in cardiac repolarization possibly by stabilizing membrane expression of the potassium channel KCNH2/HERG, or by assisting its synthesis, folding or export from the endoplasmic reticulum, in a heat shock protein-dependent manner. NA NA NA PE1 1 +NX_Q6ZRG5 Putative uncharacterized protein FLJ43944 221 24122 4.39 0 NA NA NA NA NA NA PE5 17 +NX_Q6ZRH7 Cation channel sperm-associated protein subunit gamma 1159 133032 5.95 1 Membrane;Nucleoplasm;Cytosol;Nucleolus NA Probably involved in sperm cell hyperactivation via its association with CATSPER1. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. NA Belongs to the CATSPERG family. Sperm Motility And Taxes PE1 19 +NX_Q6ZRI0 Otogelin 2925 314794 5.57 0 Apical cell membrane;Extracellular space Deafness, autosomal recessive, 18B Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in mechanotransduction processes (By similarity). N-glycosylated. Not O-glycosylated. Belongs to the otogelin family. NA PE1 11 +NX_Q6ZRI6 Uncharacterized protein C15orf39 1047 110673 7.72 0 Cytosol NA NA NA NA NA PE1 15 +NX_Q6ZRI8 Rho GTPase-activating protein 36 547 61664 9.48 0 Nucleoplasm;Cell membrane;Cytoplasmic vesicle NA GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. NA NA Rho GTPase cycle PE1 X +NX_Q6ZRK6 Coiled-coil domain-containing protein 73 1079 124154 5.42 0 NA NA NA NA NA NA PE1 11 +NX_Q6ZRM9 Putative uncharacterized protein FLJ46235 215 21770 9.15 0 NA NA NA NA NA NA PE2 7 +NX_Q6ZRN7 Putative uncharacterized protein FLJ46214 208 21161 11.78 0 NA NA NA NA NA NA PE2 16 +NX_Q6ZRP0 Proline-rich protein 23C 262 27805 4.48 0 NA NA NA NA Belongs to the PRR23 family. NA PE2 3 +NX_Q6ZRP5 Putative uncharacterized protein FLJ46204 223 25262 11.34 0 NA NA NA NA NA NA PE5 4 +NX_Q6ZRP7 Sulfhydryl oxidase 2 698 77529 7.64 1 Golgi apparatus;Cell membrane;Secreted;Nucleus membrane;Membrane;Nucleoplasm NA Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide. May contribute to disulfide bond formation in a variety of secreted proteins. Also seems to play a role in regulating the sensitization of neuroblastoma cells for interferon-gamma-induced apoptosis. NA Belongs to the quiescin-sulfhydryl oxidase (QSOX) family. NA PE1 9 +NX_Q6ZRQ5 Protein MMS22-like 1243 142321 6.72 0 Nucleoplasm;Nucleus NA Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork-associated double-strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA. NA Belongs to the MMS22 family. MMS22L subfamily. NA PE1 6 +NX_Q6ZRR5 TLC domain-containing protein 5 245 27859 8.83 6 Membrane;Cytoplasmic vesicle;Cytosol NA NA NA Belongs to the TLCD5 family. NA PE2 11 +NX_Q6ZRR7 Leucine-rich repeat-containing protein 9 1453 166911 7.66 0 NA NA NA NA NA NA PE2 14 +NX_Q6ZRS2 Helicase SRCAP 3230 343555 5.69 0 Cytoplasm;Nucleoplasm;Nucleus Floating-Harbor syndrome Catalytic component of the SRCAP complex which mediates the ATP-dependent exchange of histone H2AZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling. Acts as a coactivator for CREB-mediated transcription, steroid receptor-mediated transcription, and Notch-mediated transcription. NA Belongs to the SNF2/RAD54 helicase family. SWR1 subfamily. NA PE1 16 +NX_Q6ZRS4 Protein ITPRID1 1044 115403 5.18 0 Nucleoplasm NA NA NA NA NA PE2 7 +NX_Q6ZRT6 Proline-rich protein 23B 265 28269 4.65 0 NA NA NA NA Belongs to the PRR23 family. NA PE2 3 +NX_Q6ZRU5 Putative uncharacterized protein FLJ46089 148 16879 9.72 0 Secreted NA NA NA NA NA PE5 17 +NX_Q6ZRV2 Protein FAM83H 1179 127122 6.52 0 Cytosol;Cytoskeleton Amelogenesis imperfecta 3A May play a major role in the structural organization and calcification of developing enamel (PubMed:18252228). May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial cell migration (PubMed:23902688). NA Belongs to the FAM83 family. NA PE1 8 +NX_Q6ZRV3 Putative uncharacterized protein encoded by LINC00696 163 16900 4.89 0 NA NA NA NA NA NA PE5 3 +NX_Q6ZRX8 Putative uncharacterized protein FLJ45999 168 18969 10.14 0 NA NA NA NA NA NA PE5 12 +NX_Q6ZRY4 RNA-binding protein with multiple splicing 2 209 22497 8.63 0 Cytoplasm NA Contributes to the regulation of smooth muscle cell differentiation and proliferation in the gastrointestinal system. Binds NOG mRNA. Mediates an increase of NOG mRNA levels, and thereby contributes to the negative regulation of the BMP signaling pathway. This promotes reversible dedifferentiation of smooth muscle cells and promotes smooth muscle cell proliferation. NA NA NA PE1 15 +NX_Q6ZRZ4 Uncharacterized protein C9orf47 202 22306 10.08 0 Secreted NA NA NA NA NA PE2 9 +NX_Q6ZS02 Putative GED domain-containing protein DNM1P46 220 23740 8.42 0 NA NA NA NA NA NA PE5 15 +NX_Q6ZS10 C-type lectin domain family 17, member A 378 42935 4.6 1 Membrane NA Cell surface receptor which may be involved in carbohydrate-mediated communication between cells in the germinal center. Binds glycans with terminal alpha-linked mannose or fucose residues. Phosphorylated on tyrosine residues. NA NA PE1 19 +NX_Q6ZS11 Ras and Rab interactor-like protein 566 62466 5.59 0 Ruffle;Cytoplasmic vesicle;Nucleoplasm NA Guanine nucleotide exchange factor (GEF) for RAB5A and RAB22A that activates RAB5A and RAB22A by exchanging bound GDP for free GTP. Plays a role in endocytosis via its role in activating Rab family members (By similarity). NA NA RAB GEFs exchange GTP for GDP on RABs PE1 19 +NX_Q6ZS17 Rho family-interacting cell polarization regulator 1 1223 132308 5.87 0 Golgi apparatus;Cytoplasm;Cytosol NA Downstream effector protein for Rho-type small GTPases that plays a role in cell polarity and directional migration (PubMed:27807006). Acts as an adapter protein, linking active Rho proteins to STK24 and STK26 kinases, and hence positively regulates Golgi reorientation in polarized cell migration upon Rho activation (PubMed:27807006). Involved in the subcellular relocation of STK26 from the Golgi to cytoplasm punctae in a Rho- and PDCD10-dependent manner upon serum stimulation (PubMed:27807006). NA Belongs to the RIPOR family. NA PE1 16 +NX_Q6ZS27 Zinc finger protein 662 426 48496 7.76 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 3 +NX_Q6ZS30 Neurobeachin-like protein 1 2694 307237 6.01 0 Nucleoplasm;Cytosol NA NA NA Belongs to the WD repeat neurobeachin family. NA PE1 2 +NX_Q6ZS46 Putative uncharacterized protein FLJ45840 218 22150 10.58 0 NA NA NA NA NA NA PE5 6 +NX_Q6ZS49 Putative uncharacterized protein FLJ45831 121 13061 9.78 0 NA NA NA NA NA NA PE5 17 +NX_Q6ZS52 Putative uncharacterized protein FLJ45825 159 17352 10.74 0 NA NA NA NA NA NA PE5 6 +NX_Q6ZS62 Colorectal cancer-associated protein 1 124 13401 4.47 1 Membrane NA NA NA NA NA PE2 11 +NX_Q6ZS72 Uncharacterized protein PEAK3 473 50509 8.86 0 NA NA NA NA NA NA PE1 19 +NX_Q6ZS81 WD repeat- and FYVE domain-containing protein 4 3184 353610 5.9 0 Endoplasmic reticulum;Nucleoplasm;Early endosome;Cytosol NA Plays a critical role in the regulation of cDC1-mediated cross-presentation of viral and tumor antigens in dendritic cells. Mechanistically, acts near the plasma membrane and interacts with endosomal membranes to promote endosomal-to-cytosol antigen trafficking. Plays also a role in B-cell survival through regulation of autophagy. NA NA NA PE1 10 +NX_Q6ZS82 Regulator of G-protein signaling 9-binding protein 235 25148 6.84 1 Membrane;Cell membrane Prolonged electroretinal response suppression Regulator of G protein-coupled receptor (GPCR) signaling in phototransduction. Participates in the recovery phase of visual transduction via its interaction with RGS9-1 isoform. Acts as a membrane-anchor that mediates the targeting of RGS9-1 to the photoreceptor outer segment, where phototransduction takes place. Enhances the ability of RGS9-1 to stimulate G protein GTPase activity, allowing the visual signal to be terminated on the physiologically time scale. It also controls the proteolytic stability of RGS9-1, probably by protecting it from degradation (By similarity). NA Belongs to the RGS7BP/RGS9BP family. Inactivation, recovery and regulation of the phototransduction cascade PE1 19 +NX_Q6ZS86 Putative glycerol kinase 5 529 59156 6.48 0 Nucleoplasm;Cytosol NA NA NA Belongs to the FGGY kinase family. Polyol metabolism; glycerol degradation via glycerol kinase pathway; sn-glycerol 3-phosphate from glycerol: step 1/1. PE1 3 +NX_Q6ZS92 Putative uncharacterized protein FLJ45721 163 18106 9.99 0 NA NA NA NA NA NA PE5 4 +NX_Q6ZS94 Putative uncharacterized protein C1orf229 237 24356 11.59 0 NA NA NA NA NA NA PE2 1 +NX_Q6ZSA7 Leucine-rich repeat-containing protein 55 298 33009 5.55 1 Cell membrane NA Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel's voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium. NA NA NA PE1 11 +NX_Q6ZSA8 Putative uncharacterized protein FLJ45684 131 13825 11.82 0 NA NA NA NA NA NA PE5 19 +NX_Q6ZSB3 Putative uncharacterized protein encoded by LINC00299 139 15654 7.82 0 NA NA NA NA NA NA PE5 2 +NX_Q6ZSB9 Zinc finger and BTB domain-containing protein 49 765 85061 6.52 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA Activates RB1 transcription most probably by antagonizing ZBTB17 repression of RB1. Does not bind directly RB1 promoter.;Transcription factor. Inhibits cell proliferation by activating either CDKN1A/p21 transcription or RB1 transcription.;Binds CDKN1A promoter and activates its transcription; this activity is further potentiated in the presence of EP300 (synergistic) and ZBTB17/Miz-1 (additive). NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 4 +NX_Q6ZSC3 RNA-binding protein 43 357 40666 9.67 0 Nucleoplasm;Nucleolus NA NA NA NA NA PE1 2 +NX_Q6ZSG1 E3 ubiquitin-protein ligase RNF165 346 39526 8.19 0 Nucleoplasm;Nucleus;Cell membrane NA E3 ubiquitin-protein ligase that acts as a regulator of motor axon elongation. Required for efficient motor axon extension in the dorsal forelimb by enhancing the transcriptional responses of the SMAD1/SMAD5/SMAD8 effectors, which are activated downstream of BMP. Acts by mediating ubiquitination and degradation of SMAD inhibitors such as SMAD6, SMAD7, SKI and SNON isoform of SKIL. NA Belongs to the Arkadia family. NA PE1 18 +NX_Q6ZSG2 Inhibitory synaptic factor 2A 479 52909 8.23 0 Postsynaptic density NA Component of the protein machinery at the inhibitory synapses, probably acting as a scaffold. Inhibitory synapses dampen neuronal activity through postsynaptic hyperpolarization. This synaptic inhibition is fundamental for the functioning of the central nervous system, shaping and orchestrating the flow of information through neuronal networks to generate a precise neural code. NA Belongs to the INSYN2 family. NA PE1 10 +NX_Q6ZSI9 Calpain-12 719 81037 5.95 0 Nucleoplasm;Focal adhesion NA Calcium-regulated non-lysosomal thiol-protease. NA Belongs to the peptidase C2 family. Degradation of the extracellular matrix PE1 19 +NX_Q6ZSJ8 Uncharacterized protein C1orf122 110 11471 6.29 0 NA NA NA NA NA NA PE1 1 +NX_Q6ZSJ9 Protein shisa-6 500 55764 9.44 1 Membrane;Postsynaptic density NA Involved in maintenance of high-frequency synaptic transmission at hippocampal CA3-CA1 synapses. Regulates AMPA-type glutamate receptor (AMPAR) immobilization at postsynaptic density keeping the channels in an activated state in the presence of glutamate and preventing synaptic depression. May play a role in self-renewal and differentiation of spermatogonial stem cells by inhibiting canonical Wnt signaling pathway. NA Belongs to the shisa family. NA PE1 17 +NX_Q6ZSK4 Putative uncharacterized protein NTM-AS1 140 15188 9.61 0 NA NA NA NA NA NA PE5 11 +NX_Q6ZSM3 Monocarboxylate transporter 12 516 56498 8.64 12 Mitochondrion;Cell membrane Cataract 47 Proton-linked monocarboxylate transporter that mediates creatine transport across the plasma membrane. NA Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. NA PE1 10 +NX_Q6ZSN1 Putative uncharacterized protein FLJ45355 163 16659 11.74 0 NA NA NA NA NA NA PE2 9 +NX_Q6ZSR3 Putative uncharacterized protein FLJ45275, mitochondrial 168 17863 8.77 0 Mitochondrion NA NA NA NA NA PE5 15 +NX_Q6ZSR6 Putative uncharacterized protein FLJ45256 202 22955 6.09 0 NA NA NA NA NA NA PE2 16 +NX_Q6ZSR9 Uncharacterized protein FLJ45252 355 37976 5.14 0 NA NA NA NA NA NA PE1 2 +NX_Q6ZSS3 Zinc finger protein 621 439 49205 9.16 0 Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 3 +NX_Q6ZSS7 Major facilitator superfamily domain-containing protein 6 791 88088 5.35 12 Membrane;Nucleoplasm;Cytosol;Cytoskeleton NA NA NA Belongs to the major facilitator superfamily. MFSD6 family. NA PE1 2 +NX_Q6ZST2 Zinc finger CCHC domain-containing protein 23 131 14410 9.53 0 NA NA NA NA NA NA PE2 4 +NX_Q6ZST4 Lipocalin-like 1 protein 164 17784 8.42 0 NA NA NA NA Belongs to the calycin superfamily. Lipocalin family. NA PE2 9 +NX_Q6ZSU1 Putative inactive cytochrome P450 2G1 146 16683 6.27 0 NA NA NA NA Belongs to the cytochrome P450 family. NA PE5 19 +NX_Q6ZSV7 Putative uncharacterized protein FLJ45177 163 16907 8.74 0 NA NA NA NA NA NA PE2 6 +NX_Q6ZSY5 Protein phosphatase 1 regulatory subunit 3F 799 82798 4.5 1 Membrane;Cytoplasmic vesicle;Nucleoplasm NA Glycogen-targeting subunit for protein phosphatase 1 (PP1). NA NA NA PE1 X +NX_Q6ZSZ5 Rho guanine nucleotide exchange factor 18 1361 151642 5.98 0 Cytoplasm;Cell membrane;Apical cell membrane;Cytosol;Cytoskeleton Retinitis pigmentosa 78 Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases. Its activation induces formation of actin stress fibers. Also acts as a GEF for RAC1, inducing production of reactive oxygen species (ROS). Does not act as a GEF for CDC42. The G protein beta-gamma (Gbetagamma) subunits of heterotrimeric G proteins act as activators, explaining the integrated effects of LPA and other G-protein coupled receptor agonists on actin stress fiber formation, cell shape change and ROS production. Required for EPB41L4B-mediated regulation of the circumferential actomyosin belt in epithelial cells (PubMed:22006950). NA NA TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition);Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 19 +NX_Q6ZSZ6 Teashirt homolog 1 1077 117916 6.62 0 Nucleoplasm;Nucleus Aural atresia, congenital Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential). NA Belongs to the teashirt C2H2-type zinc-finger protein family. NA PE1 18 +NX_Q6ZT07 TBC1 domain family member 9 1266 143229 5.18 0 Nucleoplasm;Cytosol NA May act as a GTPase-activating protein for Rab family protein(s). NA NA NA PE1 4 +NX_Q6ZT12 E3 ubiquitin-protein ligase UBR3 1888 212433 5.74 3 Membrane;Nucleoplasm;Nucleolus NA E3 ubiquitin-protein ligase which is a component of the N-end rule pathway (By similarity). Does not bind to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (By similarity). May play a role in Shh signaling by mediating the ubiquitination of Kif7 (By similarity). May be important for MYH9 function in certain tissues, possibly by regulating the ubiquitination of MYH9 and consequently affecting its interaction with MYO7A (PubMed:27331610). NA Belongs to the UBR1 family. Protein modification; protein ubiquitination. PE1 2 +NX_Q6ZT21 Transmembrane protein with metallophosphoesterase domain 453 49453 6.43 5 Membrane;Nucleoplasm;Mitochondrion NA NA NA Belongs to the metallophosphoesterase superfamily. LOC643853 family. NA PE1 3 +NX_Q6ZT52 Protein FAM43B 329 36776 10.36 0 Cytosol NA NA NA Belongs to the FAM43 family. NA PE1 1 +NX_Q6ZT62 Bargin 677 73599 5.13 0 Cytosol;Cell membrane NA GTPase activating protein (GAP) which specifically converts GTP-bound RAC1 and CDC42 in their inactive GDP-bound form. The GAP activity is enhanced by the non-covalent binding of K-29 and K-48 polyubiquitin chains. NA NA NA PE1 22 +NX_Q6ZT77 Putative zinc finger protein 826 177 20580 10.14 0 Nucleus NA May be involved in transcriptional regulation. NA NA NA PE5 19 +NX_Q6ZT89 Solute carrier family 25 member 48 311 33440 8.95 6 Mitochondrion inner membrane;Cytoskeleton NA NA NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 5 +NX_Q6ZT98 Tubulin polyglutamylase TTLL7 887 102999 9.36 0 Perikaryon;Dendrite;Cilium;Cilium basal body NA Polyglutamylase which preferentially modifies beta-tubulin (PubMed:25959773). Mediates both ATP-dependent initiation and elongation of polyglutamylation of microtubules (PubMed:25959773). Required for neurite growth; responsible for the strong increase in tubulin polyglutamylation during postnatal neuronal maturation (By similarity). NA Belongs to the tubulin--tyrosine ligase family. Carboxyterminal post-translational modifications of tubulin PE1 1 +NX_Q6ZTA4 Tripartite motif-containing protein 67 783 83823 7.08 0 Cytoplasm;Cytoskeleton NA NA NA Belongs to the TRIM/RBCC family. NA PE1 1 +NX_Q6ZTB9 Putative zinc finger protein 833 187 21749 8.93 0 NA NA NA NA NA NA PE5 19 +NX_Q6ZTC4 Putative uncharacterized protein FLJ44790 211 22100 10.68 0 NA NA NA NA NA NA PE2 20 +NX_Q6ZTI0 Putative uncharacterized protein FLJ44636 123 12888 10 0 NA NA NA NA NA NA PE5 11 +NX_Q6ZTI6 Refilin-A 216 23610 8.75 0 Golgi apparatus;Nucleoplasm;Cytoskeleton NA Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in actin cytoskeleton formation in developing cartilaginous cells. NA Belongs to the Refilin family. NA PE1 12 +NX_Q6ZTK2 Putative uncharacterized protein LOC400499 550 61934 9.07 0 NA NA NA NA NA NA PE2 16 +NX_Q6ZTN6 Ankyrin repeat domain-containing protein 13D 518 58476 5.26 0 Nucleoplasm;Mitochondrion;Late endosome;Cell membrane NA Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Does not bind 'Lys-48'-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane. NA NA NA PE1 11 +NX_Q6ZTQ3 Ras association domain-containing protein 6 369 43384 8.79 0 Golgi apparatus;Nucleoplasm NA Involved in the induction of apoptosis, through both caspase-dependent and caspase-independent pathways. May act as a Ras effector protein. May suppress the serum-induced basal levels of NF-kappa-B (By similarity). NA NA NA PE1 4 +NX_Q6ZTQ4 Cadherin-related family member 3 885 97977 5.26 1 Nucleolus;Cell membrane NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.;(Microbial infection) Acts as a receptor for rhinovirus C. NA NA NA PE1 7 +NX_Q6ZTR5 Cilia- and flagella-associated protein 47 3187 361625 7.55 0 NA NA NA NA NA NA PE1 X +NX_Q6ZTR6 Putative uncharacterized protein C18orf65 163 17236 10.37 0 NA NA NA NA NA NA PE2 18 +NX_Q6ZTR7 Protein FAM92B 304 34755 8.84 0 Cilium basal body;Centriole NA May play a role in ciliogenesis (By similarity). In cooperation with CBY1 may facilitate ciliogenesis likely by the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis (PubMed:27528616). NA Belongs to the FAM92 family. NA PE1 16 +NX_Q6ZTU2 Putative EP400-like protein 488 51753 6.76 0 NA NA NA NA NA NA PE5 12 +NX_Q6ZTW0 Tubulin polyglutamylase complex subunit 1 290 31275 9.26 0 Flagellum axoneme;Cilium basal body;Centrosome;Cilium axoneme;Flagellum basal body;Axon;Dendrite NA May act in the targeting of the tubulin polyglutamylase complex. Required for the development of the spermatid flagellum (By similarity). NA NA Carboxyterminal post-translational modifications of tubulin PE1 19 +NX_Q6ZTY9 Uncharacterized protein C7orf65 151 16773 9.48 0 NA NA NA NA NA NA PE2 7 +NX_Q6ZTZ1 Myb/SANT-like DNA-binding domain-containing protein 1 278 31632 8.99 0 NA NA NA NA NA NA PE2 4 +NX_Q6ZU15 Septin-14 432 50025 5.87 0 Cytoplasm;Cytoskeleton NA Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. NA PE1 7 +NX_Q6ZU35 Cancer-related regulator of actin dynamics 1233 136760 5.5 0 Golgi apparatus;Nucleoplasm;Cytosol NA Involved in epithelial cell integrity by acting on the maintenance of the actin cytoskeleton. Positively regulates the actin polymerization, by inhibiting the interaction of actin-capping proteins with actin. NA NA NA PE1 4 +NX_Q6ZU45 Putative C-type lectin domain family 20 member A 400 44255 6.37 0 NA NA NA NA NA NA PE2 1 +NX_Q6ZU52 Uncharacterized protein KIAA0408 694 79163 8.64 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 6 +NX_Q6ZU64 Cilia- and flagella-associated protein 65 1925 217250 6.07 1 Flagellum membrane NA May play a role in sperm motility. NA Belongs to the CFAP65 family. NA PE1 2 +NX_Q6ZU65 Ubinuclein-2 1347 146089 9.24 0 Nucleoplasm NA NA NA Belongs to the ubinuclein family. NA PE1 7 +NX_Q6ZU67 BEN domain-containing protein 4 534 58375 5.75 0 Nucleoplasm;Cytosol;Nucleolus NA NA NA NA NA PE1 4 +NX_Q6ZU69 Protein FAM205A 1335 148096 8.62 1 Membrane NA NA NA Belongs to the FAM205 family. NA PE1 9 +NX_Q6ZU80 Centrosomal protein of 128 kDa 1094 128015 6.11 0 Centriole;Centriolar satellite;Spindle pole;Centrosome;Cytosol NA NA NA NA NA PE1 14 +NX_Q6ZUA9 Maestro heat-like repeat family member 5 1318 149091 7.63 0 NA NA NA NA NA NA PE2 8 +NX_Q6ZUB0 Spermatogenesis-associated protein 31D4 917 102306 8.2 1 Membrane NA May play a role in spermatogenesis. NA Belongs to the SPATA31 family. NA PE1 9 +NX_Q6ZUB1 Spermatogenesis-associated protein 31E1 1445 157136 9.29 1 Membrane NA May play a role in spermatogenesis. NA Belongs to the SPATA31 family. NA PE1 9 +NX_Q6ZUF6 Putative uncharacterized protein encoded by LINC00336 198 20903 11.57 0 NA NA NA NA NA NA PE5 6 +NX_Q6ZUG5 Uncharacterized protein FLJ43738 572 66039 6.81 0 NA NA NA NA NA NA PE1 3 +NX_Q6ZUI0 Tumor protein p63-regulated gene 1 protein 275 31230 6.61 0 Cytoplasm;Nucleoplasm NA NA NA Belongs to the TPRG1 family. NA PE1 3 +NX_Q6ZUJ4 Uncharacterized protein C3orf62 267 30194 5.36 0 Nucleus speckle NA NA NA NA NA PE1 3 +NX_Q6ZUJ8 Phosphoinositide 3-kinase adapter protein 1 805 90398 5.25 0 Nucleoplasm;Cytosol;Cytoplasm;Cell membrane NA Signaling adapter that contributes to B-cell development by linking B-cell receptor (BCR) signaling to the phosphoinositide 3-kinase (PI3K)-Akt signaling pathway. Has a complementary role to the BCR coreceptor CD19, coupling BCR and PI3K activation by providing a docking site for the PI3K subunit PIK3R1. Alternatively, links Toll-like receptor (TLR) signaling to PI3K activation, a process preventing excessive inflammatory cytokine production. Also involved in the activation of PI3K in natural killer cells. May be involved in the survival of mature B-cells via activation of REL. Are phosphorylated on tyrosine residues, most likely within the YXXM motifs, via CD19 activation (By similarity). Toll-like receptor activation induces appearance of a phosphorylated form associated with membranes (By similarity).;Constitutively phosphorylated. Phosphorylated on tyrosine residues in C-terminal region by ABL1. Phosphorylated on tyrosine residues within the YXXM motifs by BTK and SYK (By similarity). NA B cell receptor signaling pathway;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 10 +NX_Q6ZUK4 Transmembrane protein 26 368 41672 6.4 8 Membrane NA NA NA NA NA PE1 10 +NX_Q6ZUL3 Uncharacterized protein C8orf86 223 24736 9.59 0 NA NA NA NA NA NA PE2 8 +NX_Q6ZUM4 Rho GTPase-activating protein 27 889 98396 5.4 0 Membrane;Nucleoplasm;Cytoplasm NA Rho GTPase-activating protein which may be involved in clathrin-mediated endocytosis. GTPase activators for the Rho-type GTPases act by converting them to an inactive GDP-bound state. Has activity toward CDC42 and RAC1 (By similarity). NA NA Rho GTPase cycle PE1 17 +NX_Q6ZUS5 Coiled-coil domain-containing protein 121 278 33061 9.84 0 Cytosol;Cytoskeleton NA NA NA NA NA PE1 2 +NX_Q6ZUS6 Coiled-coil domain-containing protein 149 474 52796 5.92 0 Nucleolus NA NA NA Belongs to the CCDC149 family. NA PE1 4 +NX_Q6ZUT1 Uncharacterized protein NKAPD1 292 34110 9.73 0 Cytosol NA NA NA NA NA PE1 11 +NX_Q6ZUT3 FERM domain-containing protein 7 714 81614 8.05 0 Neuron projection;Growth cone Nystagmus congenital X-linked 1 Plays a role in neurite development, may be through the activation of the GTPase RAC1. Plays a role in the control of eye movement and gaze stability. NA NA NA PE1 X +NX_Q6ZUT4 Putative uncharacterized protein FLJ43343 128 14221 9.39 0 NA NA NA NA NA NA PE5 12 +NX_Q6ZUT6 Coiled-coil domain-containing protein 9B 534 57325 9.31 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 15 +NX_Q6ZUT9 DENN domain-containing protein 5B 1274 145020 6.29 1 Membrane;Nucleolus;Cytoskeleton NA Guanine nucleotide exchange factor (GEF) which may activate RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. NA Belongs to the RAB6IP1 family. RAB GEFs exchange GTP for GDP on RABs PE1 12 +NX_Q6ZUU3 FOXL2 neighbor protein 175 18625 11.34 0 Nucleolus NA NA NA NA NA PE2 3 +NX_Q6ZUV0 Putative cytosolic acyl coenzyme A thioester hydrolase-like 252 28164 6.71 0 Cytoplasm NA Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. NA NA Mitochondrial Fatty Acid Beta-Oxidation PE5 4 +NX_Q6ZUX3 TOG array regulator of axonemal microtubules protein 2 1019 111153 9.51 0 NA NA NA NA Belongs to the Crescerin family. NA PE1 2 +NX_Q6ZUX7 LHFPL tetraspan subfamily member 2 protein 228 24486 6.06 4 Membrane;Cytoplasmic vesicle;Cytoskeleton NA Plays a role in female and male fertility. Involved in distal reproductive tract development. NA Belongs to the LHFP family. Platelet degranulation PE1 5 +NX_Q6ZV29 Patatin-like phospholipase domain-containing protein 7 1317 145705 7.77 1 Microsome membrane;Lysosome membrane;Centriolar satellite;Nucleus membrane;Membrane;Mitochondrion membrane;Cytosol NA Serine hydrolase, whose specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy. NA Belongs to the NTE family. Glycerophospholipid metabolism;Glycerophospholipid catabolism PE1 9 +NX_Q6ZV50 DNA-binding protein RFX8 586 66266 5.75 0 Nucleoplasm;Nucleus NA May be a transcription factor. NA Belongs to the RFX family. NA PE2 2 +NX_Q6ZV56 Putative uncharacterized protein C22orf34 151 16313 6.5 0 NA NA NA NA NA NA PE5 22 +NX_Q6ZV60 Putative uncharacterized protein encoded by LINC00173 143 16386 9.92 0 NA NA NA NA NA NA PE5 12 +NX_Q6ZV65 Protein FAM47E 393 45662 9.47 0 Cytosol;Cell membrane NA NA NA Belongs to the FAM47 family. NA PE2 4 +NX_Q6ZV70 LanC-like protein 3 420 46319 6.71 0 Mitochondrion NA NA NA Belongs to the LanC-like protein family. NA PE1 X +NX_Q6ZV73 FYVE, RhoGEF and PH domain-containing protein 6 1430 160816 6.61 0 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton NA May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. May play a role in regulating the actin cytoskeleton and cell shape (By similarity). NA NA NA PE1 12 +NX_Q6ZV77 Uncharacterized protein C9orf139 190 20001 6.99 0 NA NA NA NA NA NA PE2 9 +NX_Q6ZV80 Uncharacterized protein C2orf91 131 14825 9.55 0 NA NA NA NA NA NA PE2 2 +NX_Q6ZV89 SH2 domain-containing protein 5 423 46797 8.89 0 Cytosol;Postsynaptic density NA May be involved in synaptic plasticity regulation through the control of Rac-GTP levels. NA NA NA PE1 1 +NX_Q6ZVC0 Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1 841 87928 9.72 0 Golgi apparatus;Cytoplasmic vesicle NA Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis. Phosphorylated on tyrosine residues by FYN upon stimulation with CNTN5. Belongs to the NYAP family. NA PE1 7 +NX_Q6ZVD7 Storkhead-box protein 1 989 110962 7.82 0 Cytoplasm;Nucleolus;Nucleoplasm;Centrosome;Cytosol;Nucleus Pre-eclampsia/eclampsia 4 Involved in cell cycle regulation by binding to the CCNB1 promoter, up-regulating its expression and promoting mitotic entry (PubMed:22253775). Induces phosphorylation of MAPT/tau (PubMed:22995177).;Involved in regulating the levels of reactive oxidative species and reactive nitrogen species and in mitochondrial homeostasis in the placenta (PubMed:24738702). Required for regulation of inner ear epithelial cell proliferation via the AKT signaling pathway (By similarity). NA NA NA PE1 10 +NX_Q6ZVD8 PH domain leucine-rich repeat-containing protein phosphatase 2 1323 146751 5.45 0 Membrane;Cytoplasm;Nucleus;Cytoplasmic vesicle NA Protein phosphatase involved in regulation of Akt and PKC signaling. Mediates dephosphorylation in the C-terminal domain hydrophobic motif of members of the AGC Ser/Thr protein kinase family; specifically acts on 'Ser-473' of AKT1, 'Ser-660' of PRKCB isoform beta-II and 'Ser-657' of PRKCA. Akt regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors that regulate pro- and antiapoptotic genes. Dephosphorylation of 'Ser-473' of Akt triggers apoptosis and decreases cell proliferation. Also controls the phosphorylation of AKT3. Dephosphorylates STK4 on 'Thr-387' leading to STK4 activation and apoptosis (PubMed:20513427). Dephosphorylates RPS6KB1 and is involved in regulation of cap-dependent translation (PubMed:21986499). Inhibits cancer cell proliferation and may act as a tumor suppressor. Dephosphorylation of PRKCA and PRKCB leads to their destabilization and degradation. Dephosphorylates RAF1 inhibiting its kinase activity (PubMed:24530606). NA NA Negative regulation of the PI3K/AKT network PE1 16 +NX_Q6ZVE7 Vesicle transport protein GOT1A 132 14887 10.38 4 Golgi apparatus membrane NA May be involved in fusion of ER-derived transport vesicles with the Golgi complex. NA Belongs to the GOT1 family. NA PE1 1 +NX_Q6ZVF9 G protein-regulated inducer of neurite outgrowth 3 776 82439 7.52 0 Nucleoplasm;Nucleolus NA May be involved in neurite outgrowth. NA NA NA PE1 4 +NX_Q6ZVH6 Putative uncharacterized protein FLJ42569 145 15831 8.23 0 NA NA NA NA NA NA PE2 11 +NX_Q6ZVH7 Espin-like protein 1005 108132 6.01 0 Stereocilium NA Binds to but does not cross-link actin. Required for the formation and maintenance of inner ear hair cell stereocilia and staircase formation. Essential for normal hearing. NA NA NA PE1 2 +NX_Q6ZVK1 Transmembrane protein 179 233 26378 5.07 4 Membrane;Mitochondrion NA NA NA Belongs to the TMEM179 family. NA PE1 14 +NX_Q6ZVK8 8-oxo-dGDP phosphatase NUDT18 323 35501 5.83 0 Golgi apparatus;Nucleoplasm NA Mediates the hydrolyzis of oxidized nucleoside diphosphate derivatives. Hydrolyzes 8-oxo-7,8-dihydroguanine (8-oxo-Gua)-containing deoxyribo- and ribonucleoside diphosphates to the monophosphates. Hydrolyzes 8-oxo-dGDP and 8-oxo-GDP with the same efficiencies. Hydrolyzes also 8-OH-dADP and 2-OH-dADP. Exhibited no or minimal hydrolyzis activity against 8-oxo-dGTP, 8-oxo-GTP, dGTP, GTP, dGDP and GDP. Probably removes oxidized guanine nucleotides from both the DNA and RNA precursor pools. NA Belongs to the Nudix hydrolase family. Phosphate bond hydrolysis by NUDT proteins PE1 8 +NX_Q6ZVL6 UPF0606 protein KIAA1549L 1849 198999 8.32 1 Membrane;Cytoplasmic vesicle;Nucleoplasm NA NA NA Belongs to the UPF0606 family. NA PE1 11 +NX_Q6ZVL8 Putative uncharacterized protein FLJ42384 140 15891 9.03 0 NA NA NA NA NA NA PE2 16 +NX_Q6ZVM7 TOM1-like protein 2 507 55556 4.69 0 Golgi apparatus;Cytoskeleton NA Probable role in protein transport. May regulate growth factor-induced mitogenic signaling. NA Belongs to the TOM1 family. NA PE1 17 +NX_Q6ZVN7 Putative protein SEM1, isoform 2 128 14085 9.69 0 NA NA NA NA NA NA PE2 7 +NX_Q6ZVN8 Hemojuvelin 426 45080 7.57 0 Cell membrane Hemochromatosis 2A Acts as a bone morphogenetic protein (BMP) coreceptor. Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis. Autocatalytically cleaved at low pH; the two chains remain linked via two disulfide bonds. Also proteolytically processed by TMPRSS6, several fragments being released in the extracellular space; regulates HJV activity in BMP signaling and thefore iron homeostasis. Belongs to the repulsive guidance molecule (RGM) family. Netrin-1 signaling PE1 1 +NX_Q6ZVQ6 Putative uncharacterized protein FLJ42213 151 17006 11.05 0 NA NA NA NA NA NA PE2 19 +NX_Q6ZVS7 Protein FAM183BP 135 16193 8.06 0 Cilium basal body NA NA NA Belongs to the FAM183 family. NA PE5 7 +NX_Q6ZVT0 Inactive polyglycylase TTLL10 673 75042 9.36 0 NA NA Inactive polyglycylase. NA NA Carboxyterminal post-translational modifications of tubulin PE1 1 +NX_Q6ZVT6 Uncharacterized protein C3orf67 689 76271 5.09 0 Golgi apparatus NA NA NA NA NA PE2 3 +NX_Q6ZVU0 Putative uncharacterized protein FLJ42102 165 18168 9.05 0 NA NA NA NA NA NA PE5 11 +NX_Q6ZVW7 Putative interleukin-17 receptor E-like 336 37514 8.74 0 NA NA NA NA NA NA PE1 22 +NX_Q6ZVX7 F-box only protein 50 275 30847 6.16 0 Cytoplasm NA Promotes cell proliferation. NA NA NA PE1 19 +NX_Q6ZVX9 Membrane progestin receptor epsilon 377 42692 8.92 7 Cell membrane NA Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432, PubMed:23161870). Seems to act through a G(s) mediated pathway (PubMed:23161870). May be involved in regulating rapid P4 signaling in the nervous system (PubMed:23763432). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23161870). NA Belongs to the ADIPOR family. NA PE1 3 +NX_Q6ZVZ8 Ankyrin repeat and SOCS box protein 18 466 50803 6.49 0 NA NA May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE2 2 +NX_Q6ZW05 Patched domain-containing protein 4 846 96371 8.84 12 Membrane;Cytosol;Cell membrane NA Could act as a repressor of canonical hedgehog signaling by antagonizing the effects of SMO, as suggested by down-regulation of hedgehog target genes, including GLI1, PTCH1, and PTCH2 in PTCHD4-expressing cells. NA Belongs to the patched family. NA PE1 6 +NX_Q6ZW13 Uncharacterized protein C16orf86 317 33511 5.29 0 NA NA NA NA NA NA PE1 16 +NX_Q6ZW31 Rho GTPase-activating protein SYDE1 735 79793 8.72 0 Golgi apparatus;Nucleoplasm;Cytosol NA GTPase activator for the Rho-type GTPases. As a GCM1 downstream effector, it is involved in placental development and positively regulates trophoblast cells migration. It regulates cytoskeletal remodeling by controlling the activity of Rho GTPases including RHOA, CDC42 and RAC1 (PubMed:27917469). NA NA Rho GTPase cycle PE1 19 +NX_Q6ZW33 MICAL C-terminal-like protein 695 77277 8.64 0 Cytoplasm NA May cooperate with MAPK1/ERK2 via an intracellular signal transduction pathway in the morphogenetic development of round spermatids to spermatozoa. May act as Rab effector protein and play a role in vesicle trafficking. NA Belongs to the ebitein family. NA PE1 11 +NX_Q6ZW49 PAX-interacting protein 1 1069 121341 6.24 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus matrix;Chromosome NA Involved in DNA damage response and in transcriptional regulation through histone methyltransferase (HMT) complexes. Plays a role in early development. In DNA damage response is required for cell survival after ionizing radiation. In vitro shown to be involved in the homologous recombination mechanism for the repair of double-strand breaks (DSBs). Its localization to DNA damage foci requires RNF8 and UBE2N. Recruits TP53BP1 to DNA damage foci and, at least in particular repair processes, effective DNA damage response appears to require the association with TP53BP1 phosphorylated by ATM at 'Ser-25'. Together with TP53BP1 regulates ATM association. Proposed to recruit PAGR1 to sites of DNA damage and the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage; the function is probably independent of MLL-containing histone methyltransferase (HMT) complexes. However, this function has been questioned (By similarity). Promotes ubiquitination of PCNA following UV irradiation and may regulate recruitment of polymerase eta and RAD51 to chromatin after DNA damage. Proposed to be involved in transcriptional regulation by linking MLL-containing histone methyltransferase (HMT) complexes to gene promoters by interacting with promoter-bound transcription factors such as PAX2. Associates with gene promoters that are known to be regulated by KMT2D/MLL2. During immunoglobulin class switching in activated B-cells is involved in trimethylation of histone H3 at 'Lys-4' and in transcription initiation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus; this function appears to involve the recruitment of MLL-containing HMT complexes. Conflictingly, its function in transcriptional regulation during immunoglobulin class switching is reported to be independent of the MLL2/MLL3 complex (By similarity). NA NA Nonhomologous End-Joining (NHEJ);Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 7 +NX_Q6ZW61 Bardet-Biedl syndrome 12 protein 710 79085 5.8 0 Cilium Bardet-Biedl syndrome 12 Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184). NA Belongs to the TCP-1 chaperonin family. BBS12 subfamily. BBSome-mediated cargo-targeting to cilium PE1 4 +NX_Q6ZW76 Ankyrin repeat and SAM domain-containing protein 3 656 72038 5.31 0 Cytoplasm;Nucleoplasm;Cilium;Cytosol NA May be involved in vasopressin signaling in the kidney. Hydroxylated at Asn-96, most probably by HIF1AN.;Phosphorylations at Ser-5, Ser-225, Thr-319, Ser-320, Ser-368 and Ser-371 occur in a NEK7-dependent manner.;Polyubiquitinated. NA NA PE1 16 +NX_Q6ZWB6 BTB/POZ domain-containing protein KCTD8 473 52440 8.6 0 Cytoplasmic vesicle;Presynaptic cell membrane;Postsynaptic cell membrane NA Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity). NA NA NA PE1 4 +NX_Q6ZWC4 Putative uncharacterized protein LOC100128429 215 22988 9.32 0 NA NA NA NA NA NA PE5 19 +NX_Q6ZWE6 Pleckstrin homology domain-containing family M member 3 761 87166 6.69 0 Golgi apparatus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol NA Involved in skeletal muscle differentiation. May act as a scaffold protein for AKT1 during muscle differentiation. NA NA NA PE1 2 +NX_Q6ZWH5 Serine/threonine-protein kinase Nek10 1172 133259 6.35 0 Nucleoplasm;Cytoplasmic vesicle NA NA NA Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. NA PE1 3 +NX_Q6ZWI9 Ret finger protein-like 4B 263 29922 5.52 0 NA NA NA NA NA NA PE1 6 +NX_Q6ZWJ1 Syntaxin-binding protein 4 553 61662 5.12 0 Cytoplasm;Cytosol;Cell membrane NA Plays a role in the translocation of transport vesicles from the cytoplasm to the plasma membrane. Inhibits the translocation of SLC2A4 from intracellular vesicles to the plasma membrane by STX4A binding and preventing the interaction between STX4A and VAMP2. Stimulation with insulin disrupts the interaction with STX4A, leading to increased levels of SLC2A4 at the plasma membrane. May also play a role in the regulation of insulin release by pancreatic beta cells after stimulation by glucose (By similarity). Phosphorylated on Ser-99 by PKB/AKT2 after insulin treatment. Phosphorylation on Ser-99 abolishes the interaction with STX4A (By similarity). NA NA PE1 17 +NX_Q6ZWJ8 Kielin/chordin-like protein 1568 166935 5.5 0 Secreted NA Enhances bone morphogenetic protein (BMP) signaling in a paracrine manner. In contrast, it inhibits both the activin-A and TGFB1-mediated signaling pathways (By similarity). NA NA NA PE1 7 +NX_Q6ZWK4 Regulator of hemoglobinization and erythroid cell expansion protein 172 19405 4.76 1 Cell membrane NA Acts as a signaling transduction factor of the EPO-EPOR signaling pathway promoting erythroid cell differentiation (PubMed:25092874). Phosphorylated. Phosphorylation on Tyr-132 and Tyr-141 occurs in a erythropoietin (EPO)-dependent manner (PubMed:25092874). NA NA PE1 1 +NX_Q6ZWK6 Transmembrane protease serine 11F 438 49410 9.33 1 Membrane NA Probable serine protease. NA Belongs to the peptidase S1 family. NA PE2 4 +NX_Q6ZWL3 Cytochrome P450 4V2 525 60724 7.19 1 Endoplasmic reticulum membrane;Nucleus speckle Bietti crystalline corneoretinal dystrophy Omega-hydroxylase that oxidizes medium-chain saturated fatty acids and polyunsaturated omega-3 fatty acids, and which plays a role in fatty acid and steroid metabolism in the eye (PubMed:19661213, PubMed:22772592). Catalyzes the omega-hydroxylation of medium-chain saturated fatty acids such as laurate, myristate and palmitate in an NADPH-dependent pathway. The substrate specificity is higher for myristate > laurate > palmitate (C14>C16>C12) (PubMed:19661213). Acts as a polyunsaturated omega-3 fatty acids hydroxylase by mediating oxidation of docosahexaenoate (DHA) to 22-hydroxydocosahexaenoate (PubMed:22772592). Also produces some 21-hydroxydocosahexaenoate. Also converts eicosapentaenoate (EPA) to 20-hydroxyeicosapentaenoate (20-OH-EPA) (PubMed:22772592). NA Belongs to the cytochrome P450 family. Lipid metabolism.;The canonical retinoid cycle in rods (twilight vision);Endogenous sterols PE1 4 +NX_Q6ZWT7 Lysophospholipid acyltransferase 2 520 59527 8.3 9 Membrane;Cytoplasmic vesicle NA Acyltransferase which mediates the conversion of lysophosphatidylethanolamine (1-acyl-sn-glycero-3-phosphoethanolamine or LPE) into phosphatidylethanolamine (1,2-diacyl-sn-glycero-3-phosphoethanolamine or PE) (LPEAT activity). Catalyzes also the acylation of lysophosphatidic acid (LPA) into phosphatidic acid (PA) (LPAAT activity). Has also a very weak lysophosphatidylcholine acyltransferase (LPCAT activity). Prefers oleoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. NA Belongs to the membrane-bound acyltransferase family. Lipid metabolism; phospholipid metabolism.;Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Acyl chain remodelling of PC;Acyl chain remodelling of PE PE1 2 +NX_Q6ZXV5 Protein O-mannosyl-transferase TMTC3 915 104009 9.03 9 Membrane;Endoplasmic reticulum Lissencephaly 8 Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3 (PubMed:28973932). Involved in the positive regulation of proteasomal protein degradation in the endoplasmic reticulum (ER), and the control of ER stress response. NA Belongs to the TMTC family. Protein modification; protein glycosylation. PE1 12 +NX_Q6ZYL4 General transcription factor IIH subunit 5 71 8053 4.5 0 Nucleus Trichothiodystrophy 3, photosensitive Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell. NA Belongs to the TFB5 family. Basal transcription factors;Nucleotide excision repair;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Tat-mediated elongation of the HIV-1 transcript;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER;TP53 Regulates Transcription of DNA Repair Genes PE1 6 +NX_Q701N2 Keratin-associated protein 5-5 237 21409 8.39 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 5 family. Keratinization PE2 11 +NX_Q701N4 Keratin-associated protein 5-2 177 16271 8.31 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 5 family. Keratinization PE1 11 +NX_Q702N8 Xin actin-binding repeat-containing protein 1 1843 198561 5.78 0 Nucleoplasm;Cell junction;Cell membrane;Cytoskeleton NA Protects actin filaments from depolymerization. NA Belongs to the Xin family. NA PE1 3 +NX_Q709C8 Vacuolar protein sorting-associated protein 13C 3753 422390 6.38 0 Mitochondrion outer membrane;Cytoskeleton Parkinson disease 23, autosomal recessive, early onset Necessary for proper mitochondrial function and maintenance of mitochondrial transmembrane potential. Involved in the regulation of PINK1/PRKN-mediated mitophagy in response to mitochondrial depolarization. NA Belongs to the VPS13 family. NA PE1 15 +NX_Q709F0 Acyl-CoA dehydrogenase family member 11 780 87264 8.23 0 Mitochondrion membrane;Peroxisome NA Acyl-CoA dehydrogenase, that exhibits maximal activity towards saturated C22-CoA (PubMed:21237683). Probably participates to beta-oxydation and energy production but could also play role in the metabolism of specific fatty acids to control fatty acids composition of cellular lipids in brain (Probable). NA Belongs to the acyl-CoA dehydrogenase family. Lipid metabolism; fatty acid beta-oxidation.;Mitochondrial Fatty Acid Beta-Oxidation PE1 3 +NX_Q70CQ1 Ubiquitin carboxyl-terminal hydrolase 49 688 79198 9.37 0 Nucleus NA Specifically deubiquitinates histone H2B at 'Lys-120' (H2BK120Ub). H2BK120Ub is a specific tag for epigenetic transcriptional activation and acts as a regulator of mRNA splicing. Deubiquitination is required for efficient cotranscriptional splicing of a large set of exons. NA Belongs to the peptidase C19 family. Ub-specific processing proteases PE1 6 +NX_Q70CQ2 Ubiquitin carboxyl-terminal hydrolase 34 3546 404233 5.51 0 Nucleoplasm;Cytoplasm NA Ubiquitin hydrolase that can remove conjugated ubiquitin from AXIN1 and AXIN2, thereby acting as a regulator of Wnt signaling pathway. Acts as an activator of the Wnt signaling pathway downstream of the beta-catenin destruction complex by deubiquitinating and stabilizing AXIN1 and AXIN2, leading to promote nuclear accumulation of AXIN1 and AXIN2 and positively regulate beta-catenin (CTNBB1)-mediated transcription. Recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. NA Belongs to the peptidase C19 family. TCF dependent signaling in response to WNT;Ub-specific processing proteases PE1 2 +NX_Q70CQ3 Ubiquitin carboxyl-terminal hydrolase 30 517 58503 8.57 1 Mitochondrion outer membrane NA Deubiquitinating enzyme tethered to the mitochondrial outer membrane that acts as a key inhibitor of mitophagy by counteracting the action of parkin (PRKN): hydrolyzes ubiquitin attached by parkin on target proteins, such as RHOT1/MIRO1 and TOMM20, thereby blocking parkin's ability to drive mitophagy (PubMed:18287522, PubMed:24896179, PubMed:25527291, PubMed:25621951). Preferentially cleaves 'Lys-6'- and 'Lys-11'-linked polyubiquitin chains, 2 types of linkage that participate to mitophagic signaling (PubMed:25621951). Does not cleave efficiently polyubiquitin phosphorylated at 'Ser-65' (PubMed:25527291). Acts as negative regulator of mitochondrial fusion by mediating deubiquitination of MFN1 and MFN2 (By similarity). Ubiquitinated by parkin (PRKN) at Lys-235 and Lys-289, leading to its degradation. Belongs to the peptidase C19 family. Ub-specific processing proteases PE1 12 +NX_Q70CQ4 Ubiquitin carboxyl-terminal hydrolase 31 1352 146651 9.35 0 Cytosol NA May recognize and hydrolyze the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins (By similarity). NA Belongs to the peptidase C19 family. NA PE1 16 +NX_Q70E73 Ras-associated and pleckstrin homology domains-containing protein 1 1250 135256 8.97 0 Cell membrane;Lamellipodium;Filopodium;Cytosol;Nucleus;Cytoskeleton NA Mediator of localized membrane signals. Implicated in the regulation of lamellipodial dynamics. Negatively regulates cell adhesion. RAPH1 is phosphorylated by ABL2 (Phosphotyrosine:PTM-0255) Belongs to the MRL family. NA PE1 2 +NX_Q70EK8 Inactive ubiquitin carboxyl-terminal hydrolase 53 1073 120806 7.54 0 Golgi apparatus;Nucleoplasm;Tight junction NA Tight junction-associated protein that is involved in the survival of auditory hair cells and hearing. Maybe by modulating the barrier properties and mechanical stability of tight junctions (By similarity). Has no peptidase activity (PubMed:14715245). NA Belongs to the peptidase C19 family. NA PE1 4 +NX_Q70EK9 Ubiquitin carboxyl-terminal hydrolase 51 711 79756 8.73 0 Cytosol;Nucleolus;Chromosome NA Specifically deubiquitinates 'Lys-14' (H2AK13Ub) and 'Lys-16'(H2AK15Ub) of histone H2A regulating the DNA damage response at double-strand breaks (DSBs) (PubMed:27083998). USP51 is recruited to chromatin after DNA damage and regulates the dynamic assembly/disassembly of TP53BP1 and BRCA1. Exhibits also activity for 'Lys-27' or 'Lys-63'-linked di-ubiquitin (PubMed:27083998). NA Belongs to the peptidase C19 family. NA PE1 X +NX_Q70EL1 Inactive ubiquitin carboxyl-terminal hydrolase 54 1684 187388 6.89 0 Mitochondrion NA Has no peptidase activity. NA Belongs to the peptidase C19 family. NA PE1 10 +NX_Q70EL2 Ubiquitin carboxyl-terminal hydrolase 45 814 91733 8.32 0 Nucleoplasm;Cytosol NA NA NA Belongs to the peptidase C19 family. Formation of Incision Complex in GG-NER PE1 6 +NX_Q70EL3 Inactive ubiquitin carboxyl-terminal hydrolase 50 339 38955 6.31 0 NA NA Has no peptidase activity. NA Belongs to the peptidase C19 family. NA PE2 15 +NX_Q70EL4 Ubiquitin carboxyl-terminal hydrolase 43 1123 122809 9.35 0 NA NA May recognize and hydrolyze the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins (By similarity). NA Belongs to the peptidase C19 family. Termination of translesion DNA synthesis PE1 17 +NX_Q70HW3 S-adenosylmethionine mitochondrial carrier protein 274 29354 9.39 6 Mitochondrion inner membrane;Mitochondrion Combined oxidative phosphorylation deficiency 28 Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. Specifically mediates the transport of S-adenosylmethionine (SAM) into the mitochondria. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Transport of inorganic cations/anions and amino acids/oligopeptides PE1 3 +NX_Q70IA6 MOB kinase activator 2 237 26927 6.3 0 Nucleolus;Nucleoplasm;Cytosol;Perinuclear region;Nucleus NA Stimulates the autophosphorylation and kinase activity of STK38 and STK38L. Phosphorylated. Belongs to the MOB1/phocein family. NA PE1 11 +NX_Q70IA8 MOB kinase activator 3C 216 25623 9.01 0 NA NA May regulate the activity of kinases. NA Belongs to the MOB1/phocein family. NA PE1 1 +NX_Q70J99 Protein unc-13 homolog D 1090 123282 6.19 0 Cytoplasm;Recycling endosome;Membrane;Late endosome;Lysosome;Cytoplasmic vesicle;Cytosol Familial hemophagocytic lymphohistiocytosis 3 Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing granules at the immunologic synapse and licences them for exocytosis. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells. NA Belongs to the unc-13 family. Neutrophil degranulation PE1 17 +NX_Q70JA7 Chondroitin sulfate synthase 3 882 100284 8.91 1 Golgi stack membrane NA Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Specific activity is much reduced compared to CHSY1. NA Belongs to the chondroitin N-acetylgalactosaminyltransferase family. Glycosaminoglycan biosynthesis - chondroitin sulfate;Metabolic pathways;Chondroitin sulfate biosynthesis PE1 5 +NX_Q70SY1 Cyclic AMP-responsive element-binding protein 3-like protein 2 520 57415 5.3 1 Endoplasmic reticulum;Nucleoplasm;Endoplasmic reticulum membrane;Nucleus NA Transcription factor involved in unfolded protein response (UPR). In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus to effect transcription of specific target genes. Plays a critical role in chondrogenesis by activating the transcription of SEC23A, which promotes the transport and secretion of cartilage matrix proteins, and possibly that of ER biogenesis-related genes (By similarity). In a neuroblastoma cell line, protects cells from ER stress-induced death (PubMed:17178827). In vitro activates transcription of target genes via direct binding to the CRE site (PubMed:17178827). Upon ER stress, translocated to the Golgi apparatus, where it is processed by regulated intramembrane proteolysis (RIP) to release the cytosol-facing N-terminal transcription factor domain. The cleavage is performed sequentially by site-1 and site-2 proteases (S1P/MBTPS1 and S2P/MBTPS2).;N-glycosylated.;Ubiquitinated by HRD1/SYVN1; undergoes 'Lys-48'-linked ubiquitination, followed by rapid proteasomal degradation under normal conditions. Upon ER stress, SYVN1 E3 ubiquitin-protein ligase dissociates from its substrate, ubiquitination does not occur and CREB3L2 is stabilized. Belongs to the bZIP family. ATF subfamily. Cholinergic synapse;Dopaminergic synapse;Melanogenesis;Vasopressin-regulated water reabsorption;Huntington's disease;Prostate cancer;CREB3 factors activate genes PE1 7 +NX_Q70UQ0 Inhibitor of nuclear factor kappa-B kinase-interacting protein 350 39309 9.21 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Target of p53/TP53 with pro-apoptotic function. N-glycosylated.;Is glycosylated at Asn-154. NA NA PE1 12 +NX_Q70YC4 Talanin 216 24036 8.19 0 NA Uric acid nephrolithiasis May play a role in uric acid excretion. NA NA NA PE2 10 +NX_Q70YC5 Protein ZNF365 407 46542 9.3 0 Cytoplasmic vesicle;Centrosome;Centriolar satellite NA Involved in the regulation of neurogenesis. Negatively regulates neurite outgrowth (PubMed:17389905). Involved in the morphogenesis of basket cells in the somatosensory cortex during embryogenesis. Involved in the positive regulation of oligodendrocyte differentiation during postnatal growth. Involved in dendritic arborization, morphogenesis of spine density dendrite, and establishment of postsynaptic dendrite density in cortical pyramidal neurons (By similarity). Involved in homologous recombination (HR) repair pathway. Required for proper resolution of DNA double-strand breaks (DSBs) by HR. Is required for recovery of stalled replication forks, and directly contributes to genomic stability. Interacts with PARP1 and mediates MRE11-dependent DNA end resection during replication fork recovery (PubMed:23966166). Contributes to genomic stability by preventing telomere dysfunction (PubMed:23776040). NA NA NA PE1 10 +NX_Q70Z35 Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein 1606 182622 7.26 0 Endoplasmic reticulum NA Functions as a RAC1 guanine nucleotide exchange factor (GEF), activating Rac proteins by exchanging bound GDP for free GTP. Its activity is synergistically activated by phosphatidylinositol 3,4,5-trisphosphate and the beta gamma subunits of heterotrimeric G protein. Mediates the activation of RAC1 in a PI3K-dependent manner. May be an important mediator of Rac signaling, acting directly downstream of both G protein-coupled receptors and phosphoinositide 3-kinase. NA NA Regulation of PTEN stability and activity PE1 8 +NX_Q70Z44 5-hydroxytryptamine receptor 3D 454 50191 9.02 4 Cell membrane NA This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3D sub-subfamily. Neurotransmitter receptors and postsynaptic signal transmission PE1 3 +NX_Q70Z53 Protein FRA10AC1 315 37548 8.25 0 Nucleus NA NA NA NA NA PE1 10 +NX_Q711Q0 Cardiac-enriched FHL2-interacting protein 1435 156477 5.98 0 Nucleoplasm;Z line;Mitochondrion NA Plays an important role in cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway. NA NA NA PE1 10 +NX_Q712K3 Ubiquitin-conjugating enzyme E2 R2 238 27166 4.26 0 Nucleoplasm;Nucleolus NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes monoubiquitination and 'Lys-48'-linked polyubiquitination. May be involved in degradation of katenin. NA Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Herpes simplex infection;Antigen processing: Ubiquitination & Proteasome degradation;Synthesis of active ubiquitin: roles of E1 and E2 enzymes PE1 9 +NX_Q717R9 Cystin-1 158 16393 6.76 0 Cilium membrane;Cilium axoneme NA NA NA NA Trafficking of myristoylated proteins to the cilium PE1 2 +NX_Q719H9 BTB/POZ domain-containing protein KCTD1 257 29405 6.61 0 Nucleus Scalp-ear-nipple syndrome May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent. Sumoylated. NA Negative regulation of activity of TFAP2 (AP-2) family transcription factors PE1 18 +NX_Q719I0 Putative activator of 90 kDa heat shock protein ATPase homolog 2 299 33806 6.98 0 Cytoplasm;Nucleus NA Co-chaperone that stimulates HSP90 ATPase activity. NA Belongs to the AHA1 family. NA PE5 2 +NX_Q71DI3 Histone H3.2 136 15388 11.27 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Succinylation at Lys-80 (H3K79succ) by KAT2A takes place with a maximum frequency around the transcription start sites of genes (PubMed:29211711). It gives a specific tag for epigenetic transcription activation (PubMed:29211711).;Butyrylation of histones marks active promoters and competes with histone acetylation. It is present during late spermatogenesis.;Citrullination at Arg-9 (H3R8ci) and/or Arg-18 (H3R17ci) by PADI4 impairs methylation and represses transcription.;Serine ADP-ribosylation constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage (PubMed:29480802). Serine ADP-ribosylation at Ser-11 (H3S10ADPr) is mutually exclusive with phosphorylation at Ser-11 (H3S10ph) and impairs acetylation at Lys-10 (H3K9ac) (PubMed:30257210).;Acetylation is generally linked to gene activation. Acetylation on Lys-10 (H3K9ac) impairs methylation at Arg-9 (H3R8me2s). Acetylation on Lys-19 (H3K18ac) and Lys-24 (H3K24ac) favors methylation at Arg-18 (H3R17me). Acetylation at Lys-123 (H3K122ac) by EP300/p300 plays a central role in chromatin structure: localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability.;Lysine deamination at Lys-5 (H3K4all) to form allysine is mediated by LOXL2. Allysine formation by LOXL2 only takes place on H3K4me3 and results in gene repression.;Monoubiquitinated by RAG1 in lymphoid cells, monoubiquitination is required for V(D)J recombination. Ubiquitinated by the CUL4-DDB-RBX1 complex in response to ultraviolet irradiation. This may weaken the interaction between histones and DNA and facilitate DNA accessibility to repair proteins.;Asymmetric dimethylation at Arg-18 (H3R17me2a) by CARM1 is linked to gene activation. Symmetric dimethylation at Arg-9 (H3R8me2s) by PRMT5 is linked to gene repression. Asymmetric dimethylation at Arg-3 (H3R2me2a) by PRMT6 is linked to gene repression and is mutually exclusive with H3 Lys-5 methylation (H3K4me2 and H3K4me3). H3R2me2a is present at the 3' of genes regardless of their transcription state and is enriched on inactive promoters, while it is absent on active promoters.;Phosphorylated at Thr-4 (H3T3ph) by HASPIN during prophase and dephosphorylated during anaphase. Phosphorylation at Ser-11 (H3S10ph) by AURKB is crucial for chromosome condensation and cell-cycle progression during mitosis and meiosis. In addition phosphorylation at Ser-11 (H3S10ph) by RPS6KA4 and RPS6KA5 is important during interphase because it enables the transcription of genes following external stimulation, like mitogens, stress, growth factors or UV irradiation and result in the activation of genes, such as c-fos and c-jun. Phosphorylation at Ser-11 (H3S10ph), which is linked to gene activation, prevents methylation at Lys-10 (H3K9me) but facilitates acetylation of H3 and H4. Phosphorylation at Ser-11 (H3S10ph) by AURKB mediates the dissociation of HP1 proteins (CBX1, CBX3 and CBX5) from heterochromatin. Phosphorylation at Ser-11 (H3S10ph) is also an essential regulatory mechanism for neoplastic cell transformation. Phosphorylated at Ser-29 (H3S28ph) by MAP3K20 isoform 1, RPS6KA5 or AURKB during mitosis or upon ultraviolet B irradiation. Phosphorylation at Thr-7 (H3T6ph) by PRKCB is a specific tag for epigenetic transcriptional activation that prevents demethylation of Lys-5 (H3K4me) by LSD1/KDM1A. At centromeres, specifically phosphorylated at Thr-12 (H3T11ph) from prophase to early anaphase, by DAPK3 and PKN1. Phosphorylation at Thr-12 (H3T11ph) by PKN1 is a specific tag for epigenetic transcriptional activation that promotes demethylation of Lys-10 (H3K9me) by KDM4C/JMJD2C. Phosphorylation at Tyr-42 (H3Y41ph) by JAK2 promotes exclusion of CBX5 (HP1 alpha) from chromatin.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Methylation at Lys-5 (H3K4me), Lys-37 (H3K36me) and Lys-80 (H3K79me) are linked to gene activation. Methylation at Lys-5 (H3K4me) facilitates subsequent acetylation of H3 and H4. Methylation at Lys-80 (H3K79me) is associated with DNA double-strand break (DSB) responses and is a specific target for TP53BP1. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are linked to gene repression. Methylation at Lys-10 (H3K9me) is a specific target for HP1 proteins (CBX1, CBX3 and CBX5) and prevents subsequent phosphorylation at Ser-11 (H3S10ph) and acetylation of H3 and H4. Methylation at Lys-5 (H3K4me) and Lys-80 (H3K79me) require preliminary monoubiquitination of H2B at 'Lys-120'. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are enriched in inactive X chromosome chromatin. Monomethylation at Lys-57 (H3K56me1) by EHMT2/G9A in G1 phase promotes interaction with PCNA and is required for DNA replication. Belongs to the histone H3 family. Systemic lupus erythematosus;Systemic lupus erythematosus;Systemic lupus erythematosus;Transcriptional regulation by small RNAs;PKMTs methylate histone lysines;RMTs methylate histone arginines;Factors involved in megakaryocyte development and platelet production;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Interleukin-7 signaling;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;HDMs demethylate histones;Chromatin modifying enzymes;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 1 +NX_Q71F23 Centromere protein U 418 47522 9.18 0 Kinetochore;Cytoplasm;Centriolar satellite;Nucleoplasm;Nucleus NA Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Plays an important role in the correct PLK1 localization to the mitotic kinetochores. A scaffold protein responsible for the initial recruitment and maintenance of the kinetochore PLK1 population until its degradation. Involved in transcriptional repression. Phosphorylated by PLK1 at Thr-78, creating a self-tethering site that specifically interacts with the polo-box domain of PLK1. Belongs to the CENP-U/AME1 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Deposition of new CENPA-containing nucleosomes at the centromere;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 4 +NX_Q71F56 Mediator of RNA polymerase II transcription subunit 13-like 2210 242602 5.67 0 Golgi apparatus;Nucleoplasm;Nucleus Mental retardation and distinctive facial features with or without cardiac defects;Transposition of the great arteries dextro-looped 1 Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway. NA Belongs to the Mediator complex subunit 13 family. PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 12 +NX_Q71F78 Putative lung carcinoma-associated protein 10 164 17306 9.33 0 NA NA NA NA NA NA PE2 X +NX_Q71H61 Immunoglobulin-like domain-containing receptor 2 639 71200 8.43 1 Endoplasmic reticulum membrane;Cell membrane NA May be involved in lipid homeostasis and ER stress pathways. NA Belongs to the immunoglobulin superfamily. LISCH7 family. NA PE1 1 +NX_Q71RC2 La-related protein 4 724 80596 6.2 0 Cytoplasm;Stress granule;Nucleolus;Cytosol;Nucleus NA RNA binding protein that binds to the poly-A tract of mRNA molecules (PubMed:21098120). Associates with the 40S ribosomal subunit and with polysomes (PubMed:21098120). Plays a role in the regulation of mRNA translation (PubMed:21098120). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987, PubMed:27615744). NA NA NA PE1 12 +NX_Q71RC9 Small integral membrane protein 5 77 8540 8.24 1 Membrane;Cytoplasmic vesicle;Golgi apparatus NA NA NA NA NA PE1 17 +NX_Q71RG4 Transmembrane and ubiquitin-like domain-containing protein 2 321 33788 4.92 3 Membrane;Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum NA NA NA NA NA PE1 17 +NX_Q71RG6 Putative chemokine-related protein FP248 208 21376 9.25 0 Secreted NA NA NA NA NA PE5 8 +NX_Q71RH2 Ceramide synthase 274 30629 9.12 4 Endoplasmic reticulum;Endoplasmic reticulum membrane;Golgi apparatus membrane NA Involved in ceramide synthesis. NA NA NA PE1 16 +NX_Q71RS6 Sodium/potassium/calcium exchanger 5 500 54888 5.77 11 trans-Golgi network membrane;Melanosome Albinism, oculocutaneous, 6 Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes. Predominant sodium-Calcium exchanger in melanocytes. Probably transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+). NA Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily. Sodium/Calcium exchangers;Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) PE1 15 +NX_Q71SY5 Mediator of RNA polymerase II transcription subunit 25 747 78171 8.61 0 Cytoplasm;Nucleoplasm;Nucleus Charcot-Marie-Tooth disease 2B2;Basel-Vanagaite-Smirin-Yosef syndrome Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Required for RARA/RXRA-mediated transcription. NA Belongs to the Mediator complex subunit 25 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 19 +NX_Q71U36 Tubulin alpha-1A chain 451 50136 4.94 0 Cytoskeleton Lissencephaly 3 Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. Acetylation of alpha chains at Lys-40 is located inside the microtubule lumen. This modification has been correlated with increased microtubule stability, intracellular transport and ciliary assembly.;Nitration of Tyr-451 is irreversible and interferes with normal dynein intracellular distribution.;Tubulin alpha-1A chain: Tyrosination promotes microtubule interaction with CAP-Gly domain-containing proteins such as CLIP1, CLIP2 and DCTN1. Tyrosination regulates the initiation of dynein-dynactin motility via interaction with DCTN1, which brings the dynein-dynactin complex into contact with microtubules (PubMed:26972003, PubMed:26968983). In neurons, tyrosinated tubulins mediate the initiation of retrograde vesicle transport (PubMed:26968983).;Undergoes a tyrosination/detyrosination cycle, the cyclic removal and re-addition of a C-terminal tyrosine residue by the enzymes tubulin tyrosine carboxypeptidase (VASH1 or VASH2) and tubulin tyrosine ligase (TTL), respectively.;Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).;Detyrosinated tubulin alpha-1A chain: Detyrosination is involved in metaphase plate congression by guiding chromosomes during mitosis: detyrosination promotes interaction with CENPE, promoting pole-proximal transport of chromosomes toward the equator (PubMed:25908662). Detyrosination increases microtubules-dependent mechanotransduction in dystrophic cardiac and skeletal muscle. In cardiomyocytes, detyrosinated microtubules are required to resist to contractile compression during contraction: detyrosination promotes association with desmin (DES) at force-generating sarcomeres, leading to buckled microtubules and mechanical resistance to contraction (By similarity).;Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).;Methylation of alpha chains at Lys-40 is found in mitotic microtubules and is required for normal mitosis and cytokinesis contributing to genomic stability. Belongs to the tubulin family. Phagosome;Gap junction;Pathogenic Escherichia coli infection;Separation of Sister Chromatids;Anchoring of the basal body to the plasma membrane;MHC class II antigen presentation;Intraflagellar transport;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Hedgehog 'off' state;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Post-chaperonin tubulin folding pathway;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;AURKA Activation by TPX2;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 12 +NX_Q71UI9 Histone H2A.V 128 13509 10.58 0 Nucleus;Chromosome NA Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in the formation of constitutive heterochromatin. May be required for chromosome segregation during cell division (By similarity). Monoubiquitination of Lys-122 gives a specific tag for epigenetic transcriptional repression.;Acetylated on Lys-5, Lys-8 and Lys-12 during interphase. Acetylation disappears at mitosis (By similarity). Belongs to the histone H2A family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;RMTs methylate histone arginines;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Pre-NOTCH Transcription and Translation;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 7 +NX_Q71UM5 40S ribosomal protein S27-like 84 9477 9.57 0 NA NA NA NA Belongs to the eukaryotic ribosomal protein eS27 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 15 +NX_Q75L30 Putative uncharacterized protein FLJ92257 129 13422 9.14 0 NA NA NA NA NA NA PE5 7 +NX_Q75LS8 Putative FK506-binding protein 9-like protein 142 15591 4.29 0 NA NA NA NA NA NA PE5 7 +NX_Q75MW2 Protein ZNF767 155 17236 9.66 0 NA NA NA NA NA Generic Transcription Pathway PE5 7 +NX_Q75N03 E3 ubiquitin-protein ligase Hakai 491 54519 8.57 0 Cytoplasm;Nucleoplasm;Nucleus speckle NA E3 ubiquitin-protein ligase that mediates ubiquitination of several tyrosine-phosphorylated Src substrates, including CDH1, CTTN and DOK1 (By similarity). Targets CDH1 for endocytosis and degradation (By similarity). Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:29507755). Its function in the WMM complex is unknown (PubMed:29507755). Phosphorylated on tyrosine residues. Belongs to the Hakai family. Protein modification; protein ubiquitination.;InlA-mediated entry of Listeria monocytogenes into host cells PE1 7 +NX_Q75N90 Fibrillin-3 2809 300356 4.92 0 Extracellular matrix NA Fibrillin-3: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-containing microfibrils provide long-term force bearing structural support. Probably forms intermolecular disulfide bonds either with other FBN3 molecules or with other components of the microfibrils. Belongs to the fibrillin family. Degradation of the extracellular matrix;Molecules associated with elastic fibres;Elastic fibre formation PE1 19 +NX_Q75NE6 Putative microRNA 17 host gene protein 70 8163 9.26 1 Membrane Feingold syndrome 2 NA NA NA NA PE5 13 +NX_Q75QN2 Integrator complex subunit 8 995 113088 6.65 0 Nucleoplasm;Nucleus NA Component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes. NA Belongs to the Integrator subunit 8 family. RNA polymerase II transcribes snRNA genes PE1 8 +NX_Q75T13 GPI inositol-deacylase 922 105383 9.14 7 Endoplasmic reticulum membrane Mental retardation, autosomal recessive 42 Involved in inositol deacylation of GPI-anchored proteins. GPI inositol deacylation may important for efficient transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi (By similarity). NA Belongs to the GPI inositol-deacylase family. Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Attachment of GPI anchor to uPAR PE1 2 +NX_Q75V66 Anoctamin-5 913 107188 6.37 8 Endoplasmic reticulum membrane;Cell membrane Muscular dystrophy, limb-girdle, autosomal recessive 12;Gnathodiaphyseal dysplasia;Miyoshi muscular dystrophy 3 Does not exhibit calcium-activated chloride channel (CaCC) activity. NA Belongs to the anoctamin family. Stimuli-sensing channels PE1 11 +NX_Q75VX8 GRB2-associated and regulator of MAPK protein 2 874 92882 6.48 0 Cytosol NA Probable adapter protein that may provide a link between cell surface epidermal growth factor receptor and the MAPK/ERK signaling pathway. NA Belongs to the GAREM family. NA PE1 2 +NX_Q75WM6 Testis-specific H1 histone 255 28116 11.77 0 Nucleus;Chromosome NA Essential for normal spermatogenesis and male fertility (PubMed:16533358). Required for proper cell restructuring and DNA condensation during the elongation phase of spermiogenesis. Involved in the histone-protamine transition of sperm chromatin and the subsequent production of functional sperm. Binds both double-stranded and single-stranded DNA, ATP and protamine-1. NA Belongs to the histone H1/H5 family. NA PE1 12 +NX_Q765I0 Urotensin-2B 119 13749 6.11 0 Secreted NA Potent vasoconstrictor. NA Belongs to the urotensin-2 family. Peptide ligand-binding receptors;G alpha (q) signalling events PE2 3 +NX_Q765P7 Protein MTSS 2 747 79929 7.18 0 Ruffle;Cytoplasm;Focal adhesion NA Involved in plasma membrane dynamics. Potentiated PDGF-mediated formation of membrane ruffles and lamellipodia in fibroblasts, acting via RAC1 activation (PubMed:14752106). May function in actin bundling (PubMed:14752106). NA Belongs to the MTSS family. NA PE1 16 +NX_Q76B58 BMP/retinoic acid-inducible neural-specific protein 3 766 88445 8.06 0 Mitochondrion;Secreted NA Inhibits neuronal cell proliferation by negative regulation of the cell cycle transition. Promotes pituitary gonadotrope cell proliferation, migration and invasion, when overexpressed. May play a role in cell pituitary tumor development. NA Belongs to the BRINP family. NA PE1 1 +NX_Q76EJ3 UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter 337 36673 8.89 8 Golgi apparatus;Golgi apparatus membrane NA Antiporter transporting nucleotide sugars such as UDP-N-acetylglucosamine (UDP-GlcNAc), UDP-glucose (UDP-Glc) and GDP-mannose (GDP-Man) pooled in the cytosol into the lumen of the Golgi in exchange for the corresponding nucleosides monophosphates (UMP for UDP-sugars and GMP for GDP-sugars). May take part in heparan sulfate synthesis by supplying UDP-Glc-NAc, the donor substrate, and thus be involved in growth factor signaling. NA Belongs to the TPT transporter family. SLC35D subfamily. Transport of nucleotide sugars;Keratan sulfate biosynthesis;HS-GAG biosynthesis PE1 9 +NX_Q76FK4 Nucleolar protein 8 1167 131616 6.67 0 Nucleolus NA Plays an essential role in the survival of diffuse-type gastric cancer cells. Acts as a nucleolar anchoring protein for DDX47. May be involved in regulation of gene expression at the post-transcriptional level or in ribosome biogenesis in cancer cells. Phosphorylated. NA NA PE1 9 +NX_Q76G19 PDZ domain-containing protein 4 769 86171 5.8 0 Cell cortex NA NA NA NA NA PE1 X +NX_Q76I76 Protein phosphatase Slingshot homolog 2 1423 158216 5.26 0 Cytoskeleton NA Protein phosphatase which regulates actin filament dynamics. Dephosphorylates and activates the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Inhibitory phosphorylation of cofilin is mediated by LIMK1, which may also be dephosphorylated and inactivated by this protein. NA Belongs to the protein-tyrosine phosphatase family. Regulation of actin cytoskeleton PE1 17 +NX_Q76KD6 Speriolin 591 62399 8.31 0 Cytoplasm;Centrosome NA NA NA Belongs to the speriolin family. NA PE1 8 +NX_Q76KP1 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1 1039 116513 6.51 1 Golgi stack membrane;Nucleoplasm;Spindle;Cytoskeleton NA Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N'-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans. NA Belongs to the chondroitin N-acetylgalactosaminyltransferase family. NA PE1 11 +NX_Q76KX8 Zinc finger protein 534 674 77167 9.42 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE2 19 +NX_Q76L83 Putative Polycomb group protein ASXL2 1435 153820 9 0 Nucleoplasm;Nucleus Shashi-Pena syndrome Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3. NA Belongs to the Asx family. UCH proteinases PE1 2 +NX_Q76LX8 A disintegrin and metalloproteinase with thrombospondin motifs 13 1427 153604 6.96 0 Cytoplasmic vesicle;Secreted Thrombotic thrombocytopenic purpura congenital Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation. Glycosylated. O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS13. May also be C-glycosylated on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and also N-glycosylated. These other glycosylations can also facilitate secretion.;The precursor is processed by a furin endopeptidase which cleaves off the pro-domain. NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 9 +NX_Q76M96 Coiled-coil domain-containing protein 80 950 108174 9.72 0 Extracellular matrix NA Promotes cell adhesion and matrix assembly. Phosphorylated. Belongs to the CCDC80 family. NA PE1 3 +NX_Q76MJ5 Serine/threonine-protein kinase/endoribonuclease IRE2 926 102480 6.73 1 Endoplasmic reticulum membrane NA Induces translational repression through 28S ribosomal RNA cleavage in response to ER stress. Pro-apoptotic. Appears to play no role in the unfolded-protein response, unlike closely related proteins. Autophosphorylated. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. NA PE1 16 +NX_Q76N32 Centrosomal protein of 68 kDa 757 81102 5.04 0 Nucleoplasm;Centriolar satellite;Centrosome NA Involved in maintenance of centrosome cohesion, probably as part of a linker structure which prevents centrosome splitting (PubMed:18042621). Required for localization of CDK5RAP2 to the centrosome during interphase (PubMed:24554434, PubMed:25503564). Phosphorylation by PLK1 is required for binding to BTRC in prometaphase (PubMed:25503564). Phosphorylated directly or indirectly by NEK2 (PubMed:24554434). NEK2-mediated phosphorylation promotes CEP68 dissociation from the centrosome and its degradation at the onset of mitosis (PubMed:25704143).;Ubiquitinated and targeted for proteasomal degradation in early mitosis by the SCF(BTRC) and/or SCF(FBXW11) E3 ubiquitin-protein ligase complexes (PubMed:25704143, PubMed:25503564). Degradation is complete by prometaphase and is required for removal of CDK5RAP2 from the peripheral pericentriolar material and subsequent centriole separation (PubMed:25503564). NA NA PE1 2 +NX_Q76N89 E3 ubiquitin-protein ligase HECW1 1606 179554 5.33 0 Cytoplasm;Cytosol NA E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1. Also targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS). Forms cytotoxic aggregates with DVL1, SSR3 and mutant SOD1 that lead to motor neuron death in FALS. NA NA Protein modification; protein ubiquitination.;Degradation of DVL PE1 7 +NX_Q76NI1 Kinase non-catalytic C-lobe domain-containing protein 1 1749 191397 5.83 0 Perikaryon;Dendrite NA RAS-Guanine nucleotide exchange factor (GEF) that controls the negative regulation of neuronal dendrite growth by mediating a signaling pathway linking RAS and MAP2 (By similarity). May be involved in cellular senescence (PubMed:24788352). NA NA NA PE1 10 +NX_Q7KYR7 Butyrophilin subfamily 2 member A1 527 59633 6.08 1 Membrane;Cell membrane NA NA NA Belongs to the immunoglobulin superfamily. BTN/MOG family. Butyrophilin (BTN) family interactions PE1 6 +NX_Q7KZ85 Transcription elongation factor SPT6 1726 199073 4.81 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA Transcription elongation factor which binds histone H3 and plays a key role in the regulation of transcription elongation and mRNA processing. Enhances the transcription elongation by RNA polymerase II (RNAPII) and is also required for the efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat. Besides chaperoning histones in transcription, acts to transport and splice mRNA by forming a complex with IWS1 and the C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex recruits mRNA export factors (ALYREF/THOC4, EXOSC10) as well as histone modifying enzymes (such as SETD2), to ensure proper mRNA splicing, efficient mRNA export and elongation-coupled H3K36 methylation, a signature chromatin mark of active transcription. SUPT6H via its association with SETD1A, regulates both class-switch recombination and somatic hypermutation through formation of H3K4me3 epigenetic marks on activation-induced cytidine deaminase (AICDA) target loci. Promotes the activation of the myogenic gene program by entailing erasure of the repressive H3K27me3 epigenetic mark through stabilization of the chromatin interaction of the H3K27 demethylase KDM6A. NA Belongs to the SPT6 family. Formation of RNA Pol II elongation complex;RNA Polymerase II Pre-transcription Events;RNA Polymerase II Transcription Elongation PE1 17 +NX_Q7KZF4 Staphylococcal nuclease domain-containing protein 1 910 101997 6.74 0 Cytoplasm;Cytosol;Melanosome;Nucleus NA Endonuclease that mediates miRNA decay of both protein-free and AGO2-loaded miRNAs (PubMed:28546213, PubMed:18453631). As part of its function in miRNA decay, regulates mRNAs involved in G1-to-S phase transition (PubMed:28546213). Functions as a bridging factor between STAT6 and the basal transcription factor (PubMed:12234934). Plays a role in PIM1 regulation of MYB activity (PubMed:9809063). Functions as a transcriptional coactivator for STAT5 (By similarity).;(Microbial infection) Functions as a transcriptional coactivator for the Epstein-Barr virus nuclear antigen 2 (EBNA2). Phosphorylated by PIM1 in vitro. NA Signaling by BRAF and RAF fusions PE1 7 +NX_Q7KZI7 Serine/threonine-protein kinase MARK2 788 87911 9.73 0 Cytoplasm;Lateral cell membrane;Cell membrane;Nucleoplasm;Dendrite;Cytoskeleton NA Serine/threonine-protein kinase (PubMed:23666762). Involved in cell polarity and microtubule dynamics regulation. Phosphorylates CRTC2/TORC2, DCX, HDAC7, KIF13B, MAP2, MAP4 and RAB11FIP2. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Plays a key role in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Regulates epithelial cell polarity by phosphorylating RAB11FIP2. Involved in the regulation of neuronal migration through its dual activities in regulating cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DCX. Regulates axogenesis by phosphorylating KIF13B, promoting interaction between KIF13B and 14-3-3 and inhibiting microtubule-dependent accumulation of KIF13B. Also required for neurite outgrowth and establishment of neuronal polarity. Regulates localization and activity of some histone deacetylases by mediating phosphorylation of HDAC7, promoting subsequent interaction between HDAC7 and 14-3-3 and export from the nucleus. Also acts as a positive regulator of the Wnt signaling pathway, probably by mediating phosphorylation of dishevelled proteins (DVL1, DVL2 and/or DVL3). Modulates the developmental decision to build a columnar versus a hepatic epithelial cell apparently by promoting a switch from a direct to a transcytotic mode of apical protein delivery. Essential for the asymmetric development of membrane domains of polarized epithelial cells. Autophosphorylated. Phosphorylated at Thr-208 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Phosphorylation at Thr-208 by TAOK1 activates the kinase activity, leading to phosphorylation and detachment of MAPT/TAU from microtubules. Phosphorylation at Ser-212 by GSK3-beta (GSK3B) inhibits the kinase activity. Phosphorylation by CaMK1 promotes activity and is required to promote neurite outgrowth. Phosphorylation at Thr-596 by PRKCZ/aPKC in polarized epithelial cells inhibits the kinase activity and promotes binding to 14-3-3 protein YWHAZ, leading to relocation from cell membrane to cytoplasm. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily. NA PE1 11 +NX_Q7KZN9 Cytochrome c oxidase assembly protein COX15 homolog 410 46030 9.85 8 Mitochondrion membrane;Mitochondrion Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2;Leigh syndrome May be involved in the biosynthesis of heme A. NA Belongs to the COX15/CtaA family. Porphyrin-containing compound metabolism; heme A biosynthesis; heme A from heme O: step 1/1.;Oxidative phosphorylation;Porphyrin and chlorophyll metabolism;Metabolic pathways;Heme biosynthesis PE1 10 +NX_Q7L014 Probable ATP-dependent RNA helicase DDX46 1031 117362 9.33 0 Cajal body;Membrane;Nucleus speckle;Nucleus NA Plays an essential role in splicing, either prior to, or during splicing A complex formation. NA Belongs to the DEAD box helicase family. DDX46/PRP5 subfamily. Spliceosome;mRNA Splicing - Major Pathway PE1 5 +NX_Q7L099 Protein RUFY3 469 52965 5.36 0 Cytoplasm;Invadopodium;Endomembrane system;Growth cone;Perikaryon;Cell projection;Lamellipodium;Filopodium;Cytosol NA Plays a role in the generation of neuronal polarity formation and axon growth (By similarity). Implicated in the formation of a single axon by developing neurons (By similarity). May inhibit the formation of additional axons by inhibition of PI3K in minor neuronal processes (By similarity). Plays a role in the formation of F-actin-enriched protrusive structures at the cell periphery (PubMed:25766321). Plays a role in cytoskeletal organization by regulating the subcellular localization of FSCN1 and DBN1 at axonal growth cones (By similarity). Promotes gastric cancer cell migration and invasion in a PAK1-dependent manner (PubMed:25766321). Is partially phosphorylated (By similarity).;Phosphorylated by PAK1 (PubMed:25766321). NA NA PE1 4 +NX_Q7L0J3 Synaptic vesicle glycoprotein 2A 742 82695 5.38 12 Endoplasmic reticulum;Cytosol;Synaptic vesicle membrane;Presynapse NA (Microbial infection) Receptor for the C.botulinum neurotoxin type A2 (BoNT/A, botA); glycosylation is not essential but enhances the interaction (PubMed:29649119). Probably also serves as a receptor for the closely related C.botulinum neurotoxin type A1.;Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By similarity). N-glycosylated.;Phosphorylation by CK1 of the N-terminal cytoplasmic domain regulates interaction with SYT1. Belongs to the major facilitator superfamily. ECM-receptor interaction;Toxicity of botulinum toxin type D (BoNT/D);Toxicity of botulinum toxin type F (BoNT/F);Toxicity of botulinum toxin type A (BoNT/A);Toxicity of botulinum toxin type E (BoNT/E) PE1 1 +NX_Q7L0L9 Transmembrane protein LOC653160 218 23184 10.99 2 Membrane NA NA NA NA NA PE2 1 +NX_Q7L0Q8 Rho-related GTP-binding protein RhoU 258 28218 8.39 0 Cell membrane;Podosome;Focal adhesion;Golgi apparatus membrane NA Acts upstream of PAK1 to regulate the actin cytoskeleton, adhesion turnover and increase cell migration. Stimulates quiescent cells to reenter the cell cycle. Has no detectable GTPase activity but its high intrinsic guanine nucleotide exchange activity suggests it is constitutively GTP-bound. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. Tyrosine phosphorylated by SRC in response to PTK2B/PYK2 activation. Belongs to the small GTPase superfamily. Rho family. Rho GTPase cycle;Interleukin-4 and Interleukin-13 signaling PE1 1 +NX_Q7L0R7 RING finger protein 44 432 47728 6.4 0 Nucleoplasm NA NA NA NA NA PE2 5 +NX_Q7L0X0 TLR4 interactor with leucine rich repeats 811 88723 9.7 1 Membrane NA Component of the TLR4 signaling complex. Mediate the innate immune response to bacterial lipopolysaccharide (LPS) leading to cytokine secretion. N-glycolysaled. NA NA PE1 7 +NX_Q7L0X2 Glutamate-rich protein 6 663 75255 4.87 0 NA NA NA NA Belongs to the ERICH6 family. NA PE1 3 +NX_Q7L0Y3 tRNA methyltransferase 10 homolog C 403 47347 9.4 0 Nucleoplasm;Mitochondrion;Mitochondrion nucleoid Combined oxidative phosphorylation deficiency 30 Mitochondrial tRNA N(1)-methyltransferase involved in mitochondrial tRNA maturation (PubMed:18984158, PubMed:21593607, PubMed:23042678, PubMed:27132592). Component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and PRORP/MRPP3, which cleaves tRNA molecules in their 5'-ends (PubMed:18984158). Together with HSD17B10/MRPP2, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity (PubMed:23042678, PubMed:29040705). The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; TRMT10C/MRPP1 acting as the catalytic N(1)-methyltransferase subunit (PubMed:23042678). The MRPP1-MRPP2 subcomplex also acts as a tRNA maturation platform: following 5'-end cleavage by the mitochondrial ribonuclease P complex, the MRPP1-MRPP2 subcomplex enhances the efficiency of 3'-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme (PubMed:29040705). In addition to tRNA N(1)-methyltransferase activity, TRMT10C/MRPP1 also acts as a mRNA N(1)-methyltransferase by mediating methylation of adenosine residues at the N(1) position of MT-ND5 mRNA (PubMed:29072297). NA Belongs to the class IV-like SAM-binding methyltransferase superfamily. TRM10 family. tRNA processing in the mitochondrion;tRNA modification in the mitochondrion;rRNA processing in the mitochondrion PE1 3 +NX_Q7L190 Developmental pluripotency-associated protein 4 304 33541 9.57 0 Nucleus;Nucleoplasm;Cytosol;Nucleolus NA May be involved in the maintenance of active epigenetic status of target genes. May inhibit differentiation of embryonic cells into a primitive ectoderm lineage. NA NA POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation PE1 3 +NX_Q7L1I2 Synaptic vesicle glycoprotein 2B 683 77444 5.26 12 Synaptic vesicle membrane;Acrosome NA Probably plays a role in the control of regulated secretion in neural and endocrine cells.;(Microbial infection) Receptor for the C.botulinum neurotoxin type A2 (BoNT/A, botA); glycosylation is not essential but enhances the interaction (PubMed:29649119). Probably also serves as a receptor for the closely related C.botulinum neurotoxin type A1. The N-terminal cytoplasmic domain is phosphorylated by CK1.;N-glycosylated. Belongs to the major facilitator superfamily. ECM-receptor interaction;Toxicity of botulinum toxin type D (BoNT/D);Toxicity of botulinum toxin type F (BoNT/F);Toxicity of botulinum toxin type A (BoNT/A);Toxicity of botulinum toxin type E (BoNT/E) PE1 15 +NX_Q7L1Q6 Basic leucine zipper and W2 domain-containing protein 1 419 48043 5.75 0 Cytoplasmic vesicle NA Enhances histone H4 gene transcription but does not seem to bind DNA directly. NA Belongs to the BZW family. NA PE1 2 +NX_Q7L1S5 Carbohydrate sulfotransferase 9 443 52055 9.41 1 Secreted;Golgi apparatus membrane NA But not isoform 1, is active toward chondroitin.;Catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Participates in biosynthesis of glycoprotein hormones lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures. Has a higher activity toward carbonic anhydrase VI than toward lutropin. Only active against terminal GalNAcbeta1,GalNAcbeta. NA Belongs to the sulfotransferase 2 family. Chondroitin sulfate biosynthesis PE1 18 +NX_Q7L1T6 Cytochrome b5 reductase 4 521 59474 7.6 0 Endoplasmic reticulum NA NADH-cytochrome b5 reductase involved in endoplasmic reticulum stress response pathway. Plays a critical role in protecting pancreatic beta-cells against oxidant stress, possibly by protecting the cell from excess buildup of reactive oxygen species (ROS). Reduces a variety of substrates in vitro, such as cytochrome c, feericyanide and methemoglobin. NA Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family. Erythrocytes take up carbon dioxide and release oxygen PE1 6 +NX_Q7L1V2 Vacuolar fusion protein MON1 homolog B 547 59217 5.88 0 Cytosol NA NA NA Belongs to the MON1/SAND family. RAB GEFs exchange GTP for GDP on RABs PE1 16 +NX_Q7L1W4 Volume-regulated anion channel subunit LRRC8D 858 98201 7.76 4 Nucleoplasm;Endoplasmic reticulum membrane;Mitochondrion;Cell membrane NA Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24790029, PubMed:26824658, PubMed:28193731). Plays a redundant role in the efflux of amino acids, such as aspartate, in response to osmotic stress (PubMed:28193731). Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24782309, PubMed:24790029, PubMed:26824658, PubMed:28193731). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed:26530471). Mediates the import of the antibiotic blasticidin-S into the cell (PubMed:24782309). NA Belongs to the LRRC8 family. Miscellaneous transport and binding events PE1 1 +NX_Q7L211 Protein ABHD13 337 38548 8.74 1 Membrane;Cytosol NA NA NA Belongs to the serine esterase family. NA PE1 13 +NX_Q7L266 Isoaspartyl peptidase/L-asparaginase 308 32055 5.84 0 Nucleoplasm;Cytoplasm;Cytoskeleton NA Has both L-asparaginase and beta-aspartyl peptidase activity. May be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions. Is highly active with L-Asp beta-methyl ester. Besides, has catalytic activity toward beta-aspartyl dipeptides and their methyl esters, including beta-L-Asp-L-Phe, beta-L-Asp-L-Phe methyl ester (aspartame), beta-L-Asp-L-Ala, beta-L-Asp-L-Leu and beta-L-Asp-L-Lys. Does not have aspartylglucosaminidase activity and is inactive toward GlcNAc-L-Asn. Likewise, has no activity toward glutamine. Cleaved into an alpha and beta chain by autocatalysis; this activates the enzyme. The N-terminal residue of the beta subunit is responsible for the nucleophile hydrolase activity. Belongs to the Ntn-hydrolase family. Phenylalanine metabolism PE1 11 +NX_Q7L273 BTB/POZ domain-containing protein KCTD9 389 42567 5.95 0 Nucleoplasm;Cytosol;Cytoskeleton NA Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of target proteins, leading to their degradation by the proteasome. NA NA Protein modification; protein ubiquitination. PE1 8 +NX_Q7L2E3 ATP-dependent RNA helicase DHX30 1194 133938 8.99 0 Cytoplasm;Cytosol;Mitochondrion;Mitochondrion nucleoid Neurodevelopmental disorder with severe motor impairment and absent language RNA-dependent helicase (PubMed:29100085). Plays an important role in the assembly of the mitochondrial large ribosomal subunit (PubMed:25683715, PubMed:29100085). Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates with mitochondrial DNA (PubMed:18063578). Involved in nervous system development and differentiation through its involvement in the up-regulation of a number of genes which are required for neurogenesis, including GSC, NCAM1, neurogenin, and NEUROD (By similarity). Phosphorylated on Ser-15. Belongs to the DEAD box helicase family. DEAH subfamily. NA PE1 3 +NX_Q7L2H7 Eukaryotic translation initiation factor 3 subunit M 374 42503 5.41 0 Cytoplasm;Cytosol;Nucleus NA (Microbial infection) May favor virus entry in case of infection with herpes simplex virus 1 (HSV1) or herpes simplex virus 2 (HSV2).;Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17403899, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17403899). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). NA Belongs to the eIF-3 subunit M family. L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit PE1 11 +NX_Q7L2J0 7SK snRNA methylphosphate capping enzyme 689 74355 9.62 0 Nucleoplasm;Cell junction NA S-adenosyl-L-methionine-dependent methyltransferase that adds a methylphosphate cap at the 5'-end of 7SK snRNA, leading to stabilize it. NA Belongs to the methyltransferase superfamily. NA PE1 7 +NX_Q7L2K0 Tubulin epsilon and delta complex protein 2 433 46402 9.54 0 Nucleoplasm;Cell junction;Cilium;Centriole NA Acts as a positive regulator of ciliary hedgehog signaling. Required for centriole stability. NA NA NA PE1 16 +NX_Q7L2R6 Zinc finger protein 765 523 61633 8.92 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q7L2Z9 Centromere protein Q 268 30595 9.43 0 Nucleoplasm;Centromere;Nucleus NA Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex (PubMed:16622420). Plays an important role in chromosome congression and in the recruitment of CENP-O complex (which comprises CENPO, CENPP, CENPQ and CENPU), CENPE and PLK1 to the kinetochores (PubMed:25395579). Phosphorylation at Ser-50 is essential for CENPE recruitment to kinetochores and orderly chromosome congression. Belongs to the CENP-Q/OKP1 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Deposition of new CENPA-containing nucleosomes at the centromere;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 6 +NX_Q7L311 Armadillo repeat-containing X-linked protein 2 632 65683 8.68 1 Mitochondrion outer membrane;Nucleoplasm;Mitochondrion NA May regulate the dynamics and distribution of mitochondria in neural cells. NA Belongs to the eutherian X-chromosome-specific Armcx family. NA PE1 X +NX_Q7L3B6 Hsp90 co-chaperone Cdc37-like 1 337 38835 5.22 0 Cytoplasm;Cytosol NA Co-chaperone that binds to numerous proteins and promotes their interaction with Hsp70 and Hsp90. NA Belongs to the CDC37 family. Platelet degranulation PE1 9 +NX_Q7L3S4 Zinc finger protein 771 317 35702 9.15 0 Nucleoplasm;Nucleus;Nucleolus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_Q7L3T8 Probable proline--tRNA ligase, mitochondrial 475 53263 8.45 0 Mitochondrion matrix;Mitochondrion;Nucleolus NA NA NA Belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation PE1 1 +NX_Q7L3V2 Protein Bop 364 39299 4.93 0 Mitochondrion NA Could induce apoptosis in a BH3 domain-dependent manner. The direct interaction network of Bcl-2 family members may play a key role in modulation RTL10/BOP intrinsic apoptotic signaling activity. NA NA NA PE1 22 +NX_Q7L4E1 Mitoguardin 2 593 65531 5.62 2 Mitochondrion outer membrane;Cytosol;Cell junction NA Regulator of mitochondrial fusion: acts by forming homo- and heterodimers at the mitochondrial outer membrane and facilitating the formation of PLD6/MitoPLD dimers. May act by regulating phospholipid metabolism via PLD6/MitoPLD. NA Belongs to the mitoguardin family. Synthesis of PA PE1 9 +NX_Q7L4I2 Arginine/serine-rich coiled-coil protein 2 434 50560 11.33 0 Cytoplasm;Nucleus speckle;Nucleolus;Cytosol;Nucleus NA NA NA Belongs to the RSRC2 family. NA PE1 12 +NX_Q7L4P6 BEN domain-containing protein 5 421 48182 5.88 0 Cytosol;Nucleus speckle NA Acts as a transcriptional repressor (PubMed:23468431). NA NA NA PE1 1 +NX_Q7L4S7 Protein ARMCX6 300 33019 4.69 1 Mitochondrion outer membrane;Cytoplasm;Mitochondrion;Cell membrane;Nucleus membrane;Nucleoplasm;Cytosol;Nucleus NA May regulate the dynamics and distribution of mitochondria in neural cells. NA Belongs to the eutherian X-chromosome-specific Armcx family. NA PE1 X +NX_Q7L513 Fc receptor-like A 359 38927 5.22 0 Cytoplasm NA May be implicated in B-cell differentiation and lymphomagenesis. NA NA NA PE1 1 +NX_Q7L523 Ras-related GTP-binding protein A 313 36566 7.62 0 Cytoplasm;Nucleus;Lysosome NA Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade. Forms heterodimeric Rag complexes with RRAGC or RRAGD and cycles between an inactive GDP-bound and an active GTP-bound form. In its active form participates in the relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. Involved in the RCC1/Ran-GTPase pathway. May play a direct role in a TNF-alpha signaling pathway leading to induction of cell death. May alternatively act as a cellular target for adenovirus E3-14.7K, an inhibitor of TNF-alpha functions, thereby affecting cell death. Ubiquitinated. 'Lys-68'-linked polyubiquitination of the GDP-bound inactive form of RRAGA by RNF152 is increased in response to amino acid starvation. Polyubiquitination promotes interaction with the GATOR1 complex. This does not affect RRAGA degradation. Belongs to the GTR/RAG GTP-binding protein family. Macroautophagy;TP53 Regulates Metabolic Genes;Energy dependent regulation of mTOR by LKB1-AMPK;mTOR signalling;mTORC1-mediated signalling;E3 ubiquitin ligases ubiquitinate target proteins;Regulation of PTEN gene transcription PE1 9 +NX_Q7L576 Cytoplasmic FMR1-interacting protein 1 1253 145182 6.46 0 Cytoplasm;Synaptosome;Lamellipodium;Ruffle;Perinuclear region NA Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit is an adapter between EIF4E and FMR1. Promotes the translation repression activity of FMR1 in brain probably by mediating its association with EIF4E and mRNA (By similarity). Regulates formation of membrane ruffles and lamellipodia. Plays a role in axon outgrowth. Binds to F-actin but not to RNA. Part of the WAVE complex that regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. Regulator of epithelial morphogenesis. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity). May act as an invasion suppressor in cancers. NA Belongs to the CYFIP family. Regulation of actin cytoskeleton;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;VEGFA-VEGFR2 Pathway;Neutrophil degranulation PE1 15 +NX_Q7L590 Protein MCM10 homolog 875 98183 8.96 0 Nucleoplasm;Nucleolus;Nucleus NA Acts as a replication initiation factor that brings together the MCM2-7 helicase and the DNA polymerase alpha/primase complex in order to initiate DNA replication. Additionally, plays a role in preventing DNA damage during replication. Key effector of the RBBP6 and ZBTB38-mediated regulation of DNA-replication and common fragile sites stability; acts as a direct target of transcriptional repression by ZBTB38 (PubMed:24726359). NA Belongs to the MCM10 family. Activation of ATR in response to replication stress;Activation of the pre-replicative complex PE1 10 +NX_Q7L591 Docking protein 3 496 53288 7.93 0 Cytoplasm;Cell membrane NA DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK3 is a negative regulator of JNK signaling in B-cells through interaction with INPP5D/SHIP1. May modulate ABL1 function (By similarity). Constitutively tyrosine-phosphorylated.;On IL2 stimulation, phosphorylated on C-terminal tyrosine residues possibly by Src kinases. Can also be phosphorylated by ABL1 kinase (By similarity). Belongs to the DOK family. Type A subfamily. Neutrophil degranulation PE1 5 +NX_Q7L592 Protein arginine methyltransferase NDUFAF7, mitochondrial 441 49238 8.47 0 Mitochondrion NA Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:20406883, PubMed:24089531, PubMed:24838397). Acts by mediating symmetric dimethylation of 'Arg-118' of NDUFS2 after it assembles into the complex I, stabilizing the early intermediate complex (PubMed:24089531). NA Belongs to the NDUFAF7 family. Complex I biogenesis PE1 2 +NX_Q7L5A3 Protein FAM214B 538 56690 9.09 0 Nucleoplasm;Nucleolus;Nucleus NA NA NA Belongs to the FAM214 family. NA PE1 9 +NX_Q7L5A8 Fatty acid 2-hydroxylase 372 42791 8.76 4 Microsome membrane;Endoplasmic reticulum membrane;Nucleus membrane Spastic paraplegia 35, autosomal recessive Catalyzes stereospecific hydroxylation of free fatty acids at the C-2 position to produce (R)-2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis (PubMed:17355976, PubMed:22517924, PubMed:15863841, PubMed:15337768). Plays an essential role in the synthesis of galactosphingolipids of the myelin sheath (By similarity). Responsible for the synthesis of sphingolipids and glycosphingolipids involved in the formation of epidermal lamellar bodies critical for skin permeability barrier (PubMed:17355976). Participates in the synthesis of glycosphingolipids and a fraction of type II wax diesters in sebaceous gland, specifically regulating hair follicle homeostasis (By similarity). Involved in the synthesis of sphingolipids of plasma membrane rafts, controlling lipid raft mobility and trafficking of raft-associated proteins (By similarity). NA Belongs to the sterol desaturase family. SCS7 subfamily. Lipid metabolism; fatty acid metabolism.;Sphingolipid metabolism; galactosylceramide biosynthesis.;Sphingolipid de novo biosynthesis PE1 16 +NX_Q7L5D6 Golgi to ER traffic protein 4 homolog 327 36504 5.29 0 Nucleoplasm;Cytosol;Nucleolus NA As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches-containing proteins in a soluble state and participates to their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20676083, PubMed:21636303, PubMed:21743475, PubMed:28104892). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20676083, PubMed:28104892, PubMed:25535373). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated and sorted to the proteasome (PubMed:28104892). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303). Ubiquitinated by RNF12, leading to proteasomal degradation. When unassembled from BAG6; ubiquitinylation is modulated by BAG6 quality control role and effectuated by RNF126. Belongs to the GET4 family. Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 7 +NX_Q7L5L3 Lysophospholipase D GDPD3 318 36596 8.13 2 Membrane;Nucleoplasm;Endoplasmic reticulum;Cytosol;Perinuclear region;Cytoskeleton NA Hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and the corresponding amines. Shows a preference for 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF) and lysophosphatidylcholine (lyso-PC), and to a lesser extent for lysophosphatidylethanolamine (lyso-PE). Does not display glycerophosphodiester phosphodiesterase activity, since it cannot hydrolyze either glycerophosphoinositol or glycerophosphocholine. NA Belongs to the glycerophosphoryl diester phosphodiesterase family. Glycerophospholipid catabolism PE1 16 +NX_Q7L5N1 COP9 signalosome complex subunit 6 327 36163 5.47 0 Cytoplasm;Nucleoplasm;Perinuclear region;Nucleus NA Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Has some glucocorticoid receptor-responsive activity. Stabilizes COP1 through reducing COP1 auto-ubiquitination and decelerating COP1 turnover rate, hence regulates the ubiquitination of COP1 targets. NA Belongs to the peptidase M67A family. CSN6 subfamily. Formation of TC-NER Pre-Incision Complex;DNA Damage Recognition in GG-NER;Cargo recognition for clathrin-mediated endocytosis;Neddylation PE1 7 +NX_Q7L5N7 Lysophosphatidylcholine acyltransferase 2 544 60208 6.14 1 Endoplasmic reticulum;Golgi apparatus membrane;Endoplasmic reticulum membrane;Lipid droplet NA Possesses both acyltransferase and acetyltransferase activities. Activity is calcium-dependent. Involved in platelet-activating factor (PAF) biosynthesis by catalyzing the conversion of the PAF precursor, 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF) into 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine (PAF). Also converts lyso-PAF to 1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine (PC), a major component of cell membranes and a PAF precursor. Under resting conditions, acyltransferase activity is preferred. Upon acute inflammatory stimulus, acetyltransferase activity is enhanced and PAF synthesis increases. Also catalyzes the conversion of 1-acyl-sn-glycero-3-phosphocholine to 1,2-diacyl-sn-glycero-3-phosphocholine. NA Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. Lipid metabolism; phospholipid metabolism.;Glycerophospholipid metabolism;Ether lipid metabolism;Metabolic pathways;Acyl chain remodelling of PC PE1 16 +NX_Q7L5Y1 Mitochondrial enolase superfamily member 1 443 49786 6.03 0 Mitochondrion NA Plays a role in the catabolism of L-fucose, a sugar that is part of the carbohydrates that are attached to cellular glycoproteins. Catalyzes the dehydration of L-fuconate to 2-keto-3-deoxy-L-fuconate by the abstraction of the 2-proton to generate an enediolate intermediate that is stabilized by the magnesium ion (PubMed:24697329). Could be sumoylated. Belongs to the mandelate racemase/muconate lactonizing enzyme family. ENOSF1 subfamily. NA PE1 18 +NX_Q7L5Y6 DET1 homolog 550 63848 7.32 0 Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA Component of the E3 ubiquitin ligase DCX DET1-COP1 complex, which is required for ubiquitination and subsequent degradation of target proteins. The complex is involved in JUN ubiquitination and degradation. NA Belongs to the DET1 family. Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation PE1 15 +NX_Q7L5Y9 E3 ubiquitin-protein transferase MAEA 396 45287 8.95 0 Cytoplasm;Cell membrane;Nucleus matrix;Nucleoplasm;Cytoskeleton NA Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). MAEA is required for normal cell proliferation (PubMed:29911972). The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 (PubMed:29911972). Plays a role in erythroblast enucleation during erythrocyte maturation and in the development of mature macrophages (By similarity). Mediates the attachment of erythroid cell to mature macrophages; this MAEA-mediated contact inhibits erythroid cell apoptosis (PubMed:9763581). Participates in erythroblastic island formation, which is the functional unit of definitive erythropoiesis. Associates with F-actin to regulate actin distribution in erythroblasts and macrophages (By similarity). May contribute to nuclear architecture and cells division events (Probable). Autoubiquitinated as component of the CTLH E3 ubiquitin-protein ligase complex (in vitro). NA NA PE1 4 +NX_Q7L622 G2/M phase-specific E3 ubiquitin-protein ligase 706 80504 7.9 0 Golgi apparatus;Cytoplasm;Nucleolus;Cytoplasmic vesicle;Cytosol NA E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Essential in early embryonic development to prevent apoptotic death. NA NA Protein modification; protein ubiquitination. PE1 14 +NX_Q7L775 EPM2A-interacting protein 1 607 70370 5.77 0 Endoplasmic reticulum NA NA NA NA NA PE1 3 +NX_Q7L7L0 Histone H2A type 3 130 14121 11.05 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Deiminated on Arg-4 in granulocytes upon calcium entry.;Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.;Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239).;Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of 'Lys-27' of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and 'Lys-63'-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend 'Lys-63'-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). H2AK119Ub and ionizing radiation-induced 'Lys-63'-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events.;Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes. Belongs to the histone H2A family. Systemic lupus erythematosus;RMTs methylate histone arginines;HATs acetylate histones;HDACs deacetylate histones;UCH proteinases;Ub-specific processing proteases;Metalloprotease DUBs PE1 1 +NX_Q7L7V1 Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 743 84419 4.88 0 Mitochondrion;Nucleus NA NA NA Belongs to the DEAD box helicase family. DEAH subfamily. NA PE1 10 +NX_Q7L7X3 Serine/threonine-protein kinase TAO1 1001 116070 7.3 0 Cytoplasmic vesicle;Cytoplasm NA Serine/threonine-protein kinase involved in various processes such as p38/MAPK14 stress-activated MAPK cascade, DNA damage response and regulation of cytoskeleton stability. Phosphorylates MAP2K3, MAP2K6 and MARK2. Acts as an activator of the p38/MAPK14 stress-activated MAPK cascade by mediating phosphorylation and subsequent activation of the upstream MAP2K3 and MAP2K6 kinases. Involved in G-protein coupled receptor signaling to p38/MAPK14. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of MAP2K3 and MAP2K6. Acts as a regulator of cytoskeleton stability by phosphorylating 'Thr-208' of MARK2, leading to activate MARK2 kinase activity and subsequent phosphorylation and detachment of MAPT/TAU from microtubules. Also acts as a regulator of apoptosis: regulates apoptotic morphological changes, including cell contraction, membrane blebbing and apoptotic bodies formation via activation of the MAPK8/JNK cascade. Autophosphorylated (By similarity). Phosphorylated by ATM in response to DNA damage. Phosphorylated by LRRK2.;Proteolytically processed by caspase-3 (CASP3).;TAOK1 is phosphorylated by LRRK2;TAOK1 is phosphorylated by ATM;Autophosphorylated Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. MAPK signaling pathway;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 17 +NX_Q7L804 Rab11 family-interacting protein 2 512 58279 9.33 0 Cell membrane;Nucleoplasm;Phagocytic cup;Recycling endosome membrane;Cytoplasmic vesicle NA A Rab11 effector binding preferentially phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and phosphatidic acid (PA) and acting in the regulation of the transport of vesicles from the endosomal recycling compartment (ERC) to the plasma membrane. Involved in insulin granule exocytosis. Also involved in receptor-mediated endocytosis and membrane trafficking of recycling endosomes, probably originating from clathrin-coated vesicles. Required in a complex with MYO5B and RAB11 for the transport of NPC1L1 to the plasma membrane. Also acts as a regulator of cell polarity. Plays an essential role in phagocytosis through a mechanism involving TICAM2, RAC1 and CDC42 Rho GTPases for controlling actin-dynamics. Phosphorylation at Ser-227 by MARK2 regulates epithelial cell polarity. NA Endocytosis;Vasopressin regulates renal water homeostasis via Aquaporins PE1 10 +NX_Q7L8A9 Tubulinyl-Tyr carboxypeptidase 1 365 40957 9.5 0 Cytoplasm;Secreted NA Tyrosine carboxypeptidase that removes the C-terminal tyrosine residue of alpha-tubulin, thereby regulating microtubule dynamics and function (PubMed:29146869). Acts as an angiogenesis inhibitor: inhibits migration, proliferation and network formation by endothelial cells as well as angiogenesis (PubMed:15467828, PubMed:16488400, PubMed:16707096, PubMed:19204325). This inhibitory effect is selective to endothelial cells as it does not affect the migration of smooth muscle cells or fibroblasts (PubMed:15467828, PubMed:16488400, PubMed:16707096). 2 major forms (42 and 36 kDa) and 2 minors (32 and 27 kDa) may be processed by proteolytic cleavage (PubMed:16488400). The largest form (42 kDa) seems to be secreted and the other major form (63 kDa) seems to accumulate within the cells or pericellular milieu (PubMed:16488400). Polypeptide consisting of Met-77 to Arg-318 may correspond to the 27 kDa form and that consisting of Met-77 to Val-365 may correspond to the 36 kDa form (PubMed:16488400).;Ubiquitinated in vitro. Belongs to the transglutaminase-like superfamily. Vasohibin family. NA PE1 14 +NX_Q7L8C5 Synaptotagmin-13 426 46885 7.6 1 Membrane;Golgi apparatus;Cytoplasmic vesicle NA May be involved in transport vesicle docking to the plasma membrane. NA Belongs to the synaptotagmin family. NA PE1 11 +NX_Q7L8J4 SH3 domain-binding protein 5-like 393 43499 5.57 0 Golgi apparatus;Nucleoplasm;Cytoplasmic vesicle NA Functions as guanine nucleotide exchange factor (GEF) for RAB11A. NA Belongs to the SH3BP5 family. NA PE1 1 +NX_Q7L8L6 FAST kinase domain-containing protein 5, mitochondrial 764 86574 8.41 0 Mitochondrion nucleoid NA Plays an important role in the processing of non-canonical mitochondrial mRNA precursors (PubMed:25683715). NA Belongs to the FAST kinase family. NA PE1 20 +NX_Q7L8S5 OTU domain-containing protein 6A 288 33300 6.29 0 NA NA Deubiquitinating enzyme that hydrolyzes 'Lys-27'-, 'Lys-29'- and 'Lys-33'-linked polyubiquitin chains. Also able to hydrolyze 'Lys-11'-linked ubiquitin chains. NA NA NA PE1 X +NX_Q7L8W6 Diphthine--ammonia ligase 267 30307 5.24 0 Nucleoplasm;Nucleolus NA Amidase that catalyzes the last step of diphthamide biosynthesis using ammonium and ATP. Diphthamide biosynthesis consists in the conversion of an L-histidine residue in the translation elongation factor (EEF2) to diphthamide (By similarity). NA Belongs to the Diphthine--ammonia ligase family. Protein modification; peptidyl-diphthamide biosynthesis.;Synthesis of diphthamide-EEF2 PE1 15 +NX_Q7L945 Zinc finger protein 627 461 52853 9.18 0 Nucleoplasm;Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q7L985 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 2 606 68066 8.44 1 Membrane NA NA NA NA NA PE1 9 +NX_Q7L9B9 Endonuclease/exonuclease/phosphatase family domain-containing protein 1 569 62403 8.64 0 Cytoplasmic vesicle;Nucleus speckle;Cell membrane NA NA NA NA NA PE1 7 +NX_Q7L9L4 MOB kinase activator 1B 216 25091 6.24 0 Cytoplasm;Nucleus NA Activator of LATS1/2 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Stimulates the kinase activity of STK38L. Phosphorylated by STK3/MST2 and STK4/MST1 and this phosphorylation enhances its binding to LATS1.;MOB1B is phosphorylated by STK4 Belongs to the MOB1/phocein family. Signaling by Hippo PE1 4 +NX_Q7LBC6 Lysine-specific demethylase 3B 1761 191581 6.78 0 Nucleoplasm;Nucleus NA Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May have tumor suppressor activity. NA Belongs to the JHDM2 histone demethylase family. HDMs demethylate histones PE1 5 +NX_Q7LBE3 Solute carrier family 26 member 9 791 86988 8.47 13 Membrane;Cell junction NA DIDS- and thiosulfate- sensitive anion exchanger mediating chloride, sulfate and oxalate transport. Mediates chloride/bicarbonate exchange or chloride-independent bicarbonate extrusion thus assuring bicarbonate secretion. Inhibited by ammonium and thiosulfate. NA Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. Mineral absorption;Multifunctional anion exchangers PE1 1 +NX_Q7LBR1 Charged multivesicular body protein 1b 199 22109 7.81 0 Late endosome membrane;Nucleoplasm;Endosome;Cytosol;Midbody NA Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in cytokinesis. Involved in recruiting VPS4A and/or VPS4B and SPAST to the midbody of dividing cells. Involved in HIV-1 p6- and p9-dependent virus release. NA Belongs to the SNF7 family. Endocytosis PE1 18 +NX_Q7LC44 Activity-regulated cytoskeleton-associated protein 396 45316 5.45 0 Dendritic spine;Cell cortex;Cytoskeleton;Extracellular vesicle membrane;Postsynaptic cell membrane;Postsynaptic density;Synapse;Early endosome membrane;Cytoplasmic vesicle;Dendrite;Acrosome NA Master regulator of synaptic plasticity that self-assembles into virion-like capsids that encapsulate RNAs and mediate intercellular RNA transfer in the nervous system. ARC protein is released from neurons in extracellular vesicles that mediate the transfer of ARC mRNA into new target cells, where ARC mRNA can undergo activity-dependent translation. ARC capsids are endocytosed and are able to transfer ARC mRNA into the cytoplasm of neurons. Acts as a key regulator of synaptic plasticity: required for protein synthesis-dependent forms of long-term potentiation (LTP) and depression (LTD) and for the formation of long-term memory. Regulates synaptic plasticity by promoting endocytosis of AMPA receptors (AMPARs) in response to synaptic activity: this endocytic pathway maintains levels of surface AMPARs in response to chronic changes in neuronal activity through synaptic scaling, thereby contributing to neuronal homeostasis. Acts as a postsynaptic mediator of activity-dependent synapse elimination in the developing cerebellum by mediating elimination of surplus climbing fiber synapses. Accumulates at weaker synapses, probably to prevent their undesired enhancement. This suggests that ARC-containing virion-like capsids may be required to eliminate synaptic material. Required to transduce experience into long-lasting changes in visual cortex plasticity and for long-term memory (By similarity). Involved in postsynaptic trafficking and processing of amyloid-beta A4 (APP) via interaction with PSEN1 (By similarity). In addition to its role in synapses, also involved in the regulation of the immune system: specifically expressed in skin-migratory dendritic cells and regulates fast dendritic cell migration, thereby regulating T-cell activation (By similarity). Palmitoylation anchors the protein into the membrane by allowing direct insertion into the hydrophobic core of the lipid bilayer.;Ubiquitinated by UBE3A, leading to its degradation by the proteasome, thereby promoting AMPA receptors (AMPARs) expression at synapses.;Phosphorylation at Ser-260 by CaMK2 prevents homooligomerization into virion-like capsids by disrupting an interaction surface essential for high-order oligomerization. Phosphorylation by CaMK2 inhibits synaptic activity. Belongs to the ARC/ARG3.1 family. NA PE1 8 +NX_Q7LDG7 RAS guanyl-releasing protein 2 609 69248 7.89 0 Ruffle membrane;Cytosol;Cell membrane;Synaptosome Bleeding disorder, platelet-type 18 Functions as a calcium- and DAG-regulated nucleotide exchange factor specifically activating Rap through the exchange of bound GDP for GTP. May also activates other GTPases such as RRAS, RRAS2, NRAS, KRAS but not HRAS. Functions in aggregation of platelets and adhesion of T-lymphocytes and neutrophils probably through inside-out integrin activation. May function in the muscarinic acetylcholine receptor M1/CHRM1 signaling pathway. Is palmitoylated and myristoylated. Belongs to the RASGRP family. MAPK signaling pathway;Chemokine signaling pathway;FCERI mediated NF-kB activation;Effects of PIP2 hydrolysis;Integrin alphaIIb beta3 signaling;Rap1 signalling PE1 11 +NX_Q7LDI9 Endogenous retrovirus group K member 6 Gag polyprotein 666 74079 9.11 0 Cell membrane NA The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution. Myristoylation is essential for retroviral assembly. Alteration of the glycine residue leads to a block in the budding of particles and an accumulation of Gag inside the cell (By similarity).;Specific enzymatic cleavages may yield mature proteins. Belongs to the beta type-B retroviral Gag protein family. HERV class-II K(HML-2) gag subfamily. NA PE1 7 +NX_Q7LFL8 CXXC-type zinc finger protein 5 322 32977 9.27 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA May indirectly participate in activation of the NF-kappa-B and MAPK pathways. Acts as a mediator of BMP4-mediated modulation of canonical Wnt signaling activity in neural stem cells (By similarity). Required for DNA damage-induced ATM phosphorylation, p53 activation and cell cycle arrest. Involved in myelopoiesis. Transcription factor. Binds to the oxygen responsive element of COX4I2 and represses its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen) (PubMed:23303788). May repress COX4I2 transactivation induced by CHCHD2 and RBPJ (PubMed:23303788). NA NA Estrogen-dependent gene expression PE1 5 +NX_Q7LFX5 Carbohydrate sulfotransferase 15 561 64926 8.56 1 Cytosol;Centrosome;Golgi apparatus membrane NA Sulfotransferase that transfers sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to the C-6 hydroxyl group of the GalNAc 4-sulfate residue of chondroitin sulfate A and forms chondroitin sulfate E containing GlcA-GalNAc(4,6-SO(4)) repeating units. It also transfers sulfate to a unique non-reducing terminal sequence, GalNAc(4SO4)-GlcA(2SO4)-GalNAc(6SO4), to yield a highly sulfated structure similar to the structure found in thrombomodulin chondroitin sulfate. May also act as a B-cell receptor involved in BCR ligation-mediated early activation that mediate regulatory signals key to B-cell development and/or regulation of B-cell-specific RAG expression; however such results are unclear in vivo. Glycosylated. Belongs to the sulfotransferase 1 family. Glycosaminoglycan biosynthesis - chondroitin sulfate;Chondroitin sulfate biosynthesis PE1 10 +NX_Q7LG56 Ribonucleoside-diphosphate reductase subunit M2 B 351 40737 4.89 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Mitochondrial DNA depletion syndrome 8B;Mitochondrial DNA depletion syndrome 8A;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage. NA Belongs to the ribonucleoside diphosphate reductase small chain family. Genetic information processing; DNA replication.;Purine metabolism;Pyrimidine metabolism;Glutathione metabolism;Metabolic pathways;p53 signaling pathway;TP53 Regulates Metabolic Genes;Interconversion of nucleotide di- and triphosphates PE1 8 +NX_Q7LGA3 Heparan sulfate 2-O-sulfotransferase 1 356 41881 8.83 1 Mitochondrion;Golgi apparatus membrane NA Catalyzes the transfer of sulfate to the C2-position of selected hexuronic acid residues within the maturing heparan sulfate (HS). 2-O-sulfation within HS, particularly of iduronate residues, is essential for HS to participate in a variety of high-affinity ligand-binding interactions and signaling processes. Mediates 2-O-sulfation of both L-iduronyl and D-glucuronyl residues (By similarity). N-glycosylated. Belongs to the sulfotransferase 3 family. Glycosaminoglycan biosynthesis - heparan sulfate;HS-GAG biosynthesis PE1 1 +NX_Q7LGC8 Carbohydrate sulfotransferase 3 479 54706 8.84 1 Golgi apparatus;Cytosol;Golgi apparatus membrane Spondyloepiphyseal dysplasia with congenital joint dislocations Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan, and the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the maintenance of naive T-lymphocytes in the spleen. NA Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily. Glycosaminoglycan biosynthesis - chondroitin sulfate;Chondroitin sulfate biosynthesis;Defective CHST3 causes SEDCJD PE1 10 +NX_Q7M4L6 SH2 domain-containing adapter protein F 423 46768 6.01 0 Nucleoplasm NA Adapter protein which may play a role in the regulation of apoptosis in response to PDGF. May become phosphorylated upon binding to PDGFRA. NA NA PE1 15 +NX_Q7RTM1 Proton channel OTOP1 612 67353 8.71 12 Cell membrane NA Proton-selective channel that specifically transports protons into cells (PubMed:29371428). Proton channel activity is only weakly-sensitive to voltage (By similarity). Proton-selective channel activity is probably required in cell types that use changes in intracellular pH for cell signaling or to regulate biochemical or developmental processes (PubMed:29371428). In the vestibular system of the inner ear, required for the formation and function of otoconia, which are calcium carbonate crystals that sense gravity and acceleration (By similarity). Probably acts by maintaining the pH appropriate for formation of otoconia (By similarity). Regulates purinergic control of intracellular calcium in vestibular supporting cells (By similarity). May be involved in sour taste perception in sour taste cells by mediating entry of protons within the cytosol (By similarity). Also involved in energy metabolism, by reducing adipose tissue inflammation and protecting from obesity-induced metabolic dysfunction (By similarity). NA Belongs to the otopetrin family. NA PE2 4 +NX_Q7RTN6 STE20-related kinase adapter protein alpha 431 48369 6.02 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1. Adopts a closed conformation typical of active protein kinases and binds STK11/LKB1 as a pseudosubstrate, promoting conformational change of STK11/LKB1 in an active conformation. NA Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. mTOR signaling pathway;Energy dependent regulation of mTOR by LKB1-AMPK PE1 17 +NX_Q7RTP0 Magnesium transporter NIPA1 329 34562 8.7 9 Early endosome;Cell membrane Spastic paraplegia 6, autosomal dominant Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). NA Belongs to the NIPA family. Miscellaneous transport and binding events PE1 15 +NX_Q7RTP6 [F-actin]-monooxygenase MICAL3 2002 224295 5.43 0 Cytoplasm;Cell cortex;Cytoskeleton;Cell membrane;Cilium basal body;Nucleoplasm;Cytosol;Nucleus;Spindle;Midbody;Midbody ring NA Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization. In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2). Seems to act as Rab effector protein and plays a role in vesicle trafficking. Involved in exocytic vesicles tethering and fusion: the monooxygenase activity is required for this process and implicates RAB8A associated with exocytotic vesicles. Required for cytokinesis. Contributes to stabilization and/or maturation of the intercellular bridge independently of its monooxygenase activity. Promotes recruitment of Rab8 and ERC1 to the intercellular bridge, and together these proteins are proposed to function in timely abscission. NA Belongs to the Mical family. NA PE1 22 +NX_Q7RTR0 NACHT, LRR and PYD domains-containing protein 9 991 113312 6.08 0 Cytoplasm;Inflammasome NA As the sensor component of the NLRP9 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens, including rotavirus, initiates the formation of the inflammasome polymeric complex, made of NLRP9, PYCARD and CASP1. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and release in the extracellular milieu. The active cytokines stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death. NLRP9 inflammasome activation may be initiated by DHX9 interaction with viral double-stranded RNA (dsRNA), preferentially to short dsRNA segments. NA Belongs to the NLRP family. NA PE1 19 +NX_Q7RTR2 NLR family CARD domain-containing protein 3 1065 114658 8.64 0 Cytoplasmic vesicle;Cytosol;Cytoplasm;Centriolar satellite NA Negative regulator of the innate immune response (PubMed:15705585, PubMed:22863753, PubMed:25277106). Attenuates signaling pathways activated by Toll-like receptors (TLRs) and the DNA sensor STING/TMEM173 in response to pathogen-associated molecular patterns, such as intracellular poly(dA:dT), but not poly(I:C), or in response to DNA virus infection, including that of Herpes simplex virus 1 (HSV1) (By similarity) (PubMed:22863753). May affect TLR4 signaling by acting at the level of TRAF6 ubiquitination, decreasing the activating 'Lys-63'-linked ubiquitination and leaving unchanged the degradative 'Lys-48'-linked ubiquitination (PubMed:22863753). Inhibits the PI3K-AKT-mTOR pathway possibly by directly interacting with the posphatidylinositol 3-kinase regulatory subunit p85 (PIK3R1/PIK3R2) and disrupting the association between PIK3R1/PIK3R2 and the catalytic subunit p110 (PIK3CA/PIK3CB/PIK3CD) and reducing PIK3R1/PIK3R2 activation. Via its regulation of the PI3K-AKT-mTOR pathway, controls cell proliferation, predominantly in intestinal epithelial cells (By similarity). May also affect NOD1- or NOD2-mediated NF-kappa-B activation (PubMed:25277106). Might also affect the inflammatory response by preventing NLRP3 inflammasome formation, CASP1 cleavage and IL1B maturation (PubMed:25277106). NA Belongs to the NLRP family. IRF3-mediated induction of type I IFN PE1 16 +NX_Q7RTR8 Taste receptor type 2 member 42 314 36195 9.64 7 Membrane;Nucleoplasm;Focal adhesion;Cytoskeleton NA Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE2 12 +NX_Q7RTS1 Class A basic helix-loop-helix protein 15 189 20818 11.26 0 Golgi apparatus;Nucleoplasm;Nucleus NA Plays a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast populations remain undifferentiated. Repression may occur through muscle-specific E-box occupancy by homodimers. May also negatively regulate bHLH-mediated transcription through an N-terminal repressor domain. Serves as a key regulator of acinar cell function, stability, and identity. Also required for normal organelle localization in exocrine cells and for mitochondrial calcium ion transport. May function as a unique regulator of gene expression in several different embryonic and postnatal cell lineages. Binds to the E-box consensus sequence 5'-CANNTG-3' (By similarity). NA NA Maturity onset diabetes of the young PE1 7 +NX_Q7RTS3 Pancreas transcription factor 1 subunit alpha 328 34970 5.1 0 Cytoplasm;Nucleoplasm;Nucleus Pancreatic and cerebellar agenesis;Pancreatic agenesis 2 Transcription factor implicated in the cell fate determination in various organs. Binds to the E-box consensus sequence 5'-CANNTG-3'. Plays a role in early and late pancreas development and differentiation. Important for determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. May be involved in the maintenance of exocrine pancreas-specific gene expression including ELA1 and amylase. Required for the formation of pancreatic acinar and ductal cells. Plays an important role in cerebellar development. Directly regulated by FOXN4 and RORC during retinal development, FOXN4-PTF1A pathway plays a central role in directing the differentiation of retinal progenitors towards horizontal and amacrine fates. NA NA Regulation of gene expression in early pancreatic precursor cells PE1 10 +NX_Q7RTS5 Proton channel OTOP3 596 66296 8.96 12 Cell membrane NA Proton-selective channel that specifically transports protons into cells. Proton-selective channel activity is probably required in cell types that use changes in intracellular pH for cell signaling or to regulate biochemical or developmental processes. NA Belongs to the otopetrin family. NA PE1 17 +NX_Q7RTS6 Proton channel OTOP2 562 62236 7.04 12 Cell membrane NA Proton-selective channel that specifically transports protons into cells. Proton-selective channel activity is probably required in cell types that use changes in intracellular pH for cell signaling or to regulate biochemical or developmental processes. NA Belongs to the otopetrin family. NA PE1 17 +NX_Q7RTS7 Keratin, type II cytoskeletal 74 529 57865 7.59 0 NA Ectodermal dysplasia 7, hair/nail type;Hypotrichosis 3;Woolly hair autosomal dominant Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable). NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_Q7RTS9 Dymeclin 669 75935 5.56 0 Membrane;Cytoplasm;Golgi apparatus Dyggve-Melchior-Clausen syndrome;Smith-McCort dysplasia 1 Necessary for correct organization of Golgi apparatus. Involved in bone development. Myristoylated in vitro; myristoylation is not essential for protein targeting to Golgi compartment. Belongs to the dymeclin family. NA PE1 18 +NX_Q7RTT3 Putative protein SSX9 188 21553 9.19 0 NA NA Could act as a modulator of transcription. NA Belongs to the SSX family. NA PE5 X +NX_Q7RTT4 Putative protein SSX8 187 21859 9.46 0 NA NA Could act as a modulator of transcription. NA Belongs to the SSX family. NA PE5 X +NX_Q7RTT5 Protein SSX7 188 21591 9.19 0 NA NA Could act as a modulator of transcription. NA Belongs to the SSX family. NA PE2 X +NX_Q7RTT6 Putative protein SSX6 188 21688 9.32 0 NA NA Could act as a modulator of transcription. NA Belongs to the SSX family. NA PE5 X +NX_Q7RTT9 Equilibrative nucleoside transporter 4 530 58059 7.64 10 Apical cell membrane;Cell membrane;Cytoskeleton NA Functions as a polyspecific organic cation transporter, efficiently transporting many organic cations such as monoamine neurotransmitters 1-methyl-4-phenylpyridinium and biogenic amines including serotonin, dopamine, norepinephrine and epinephrine. May play a role in regulating central nervous system homeostasis of monoamine neurotransmitters. May be involved in luminal transport of organic cations in the kidney and seems to use luminal proton gradient to drive organic cation reabsorption. Does not seem to transport nucleoside and nucleoside analogs such as uridine, cytidine, thymidine, adenosine, inosine, guanosine, and azidothymidine. In (PubMed:16873718) adenosine is efficiently transported but in a fashion highly sensitive to extracellular pH, with maximal activity in the pH range 5.5 to 6.5. Glu-206 is essential for the cation selectivity and may function as the charge sensor for cationic substrates. Transport is chloride and sodium-independent but appears to be sensitive to changes in membrane potential. Weakly inhibited by the classical inhibitors of equilibrative nucleoside transport, dipyridamole, dilazep, and nitrobenzylthioinosine. May play a role in the regulation of extracellular adenosine concentrations in cardiac tissues, in particular during ischemia. N-glycosylated. Belongs to the SLC29A/ENT transporter (TC 2.A.57) family. Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane PE1 7 +NX_Q7RTU0 Transcription factor 24 167 17516 10.24 0 Nucleus NA Putative transcription factor. NA NA NA PE1 8 +NX_Q7RTU1 Transcription factor 23 214 23309 11.33 0 Nucleus speckle;Nucleus NA Inhibits E-box-mediated binding and transactivation of bHLH factors. Inhibitory effect is similar to that of ID proteins. Inhibits the formation of TCF3 and MYOD1 homodimers and heterodimers. Lacks DNA binding activity. Seems to play a role in the inhibition of myogenesis (By similarity). NA NA NA PE2 2 +NX_Q7RTU3 Oligodendrocyte transcription factor 3 272 29358 9.54 0 Nucleus NA May determine the distinct specification program of class A neurons in the dorsal part of the spinal cord and suppress specification of class B neurons. NA NA NA PE1 6 +NX_Q7RTU4 Class A basic helix-loop-helix protein 9 235 24132 11.21 0 Cytoplasm;Nucleus Syndactyly, mesoaxial synostotic, with phalangeal reduction;Camptosynpolydactyly, complex;Split-hand/foot malformation with long bone deficiency 3 Transcription factor, which play a role in limb development. Is an essential player in the regulatory network governing transcription of genes implicated in limb morphogenesis. NA NA NA PE1 17 +NX_Q7RTU5 Achaete-scute homolog 5 278 29462 8.71 0 Nucleus NA NA NA NA NA PE2 1 +NX_Q7RTU7 Basic helix-loop-helix transcription factor scleraxis 201 21596 10.17 0 Nucleus NA Plays an early essential role in mesoderm formation, as well as a later role in formation of somite-derived chondrogenic lineages. NA NA NA PE2 8 +NX_Q7RTU9 Stereocilin 1775 192967 5.27 0 Stereocilium;Cell surface;Kinocilium Deafness-infertility syndrome;Deafness, autosomal recessive, 16 Essential to the formation of horizontal top connectors between outer hair cell stereocilia. NA Belongs to the stereocilin family. NA PE2 15 +NX_Q7RTV0 PHD finger-like domain-containing protein 5A 110 12405 8.79 0 Nucleoplasm;Nucleus speckle;Nucleus NA Involved with the PAF1 complex (PAF1C) in transcriptional elongation by RNA polymerase II, and in regulation of development and maintenance of embryonic stem cell (ESC) pluripotency. Required for maintenance of ESCs self-renewal and cellular reprogramming of stem cells. Maintains pluripotency by recruiting and stabilizing PAF1C on pluripotency genes loci, and by regulating the expression of the pluripotency genes. Regulates the deposition of elongation-associated histone modifications, including dimethylated histone H3 'Lys-79' (H3K79me2) and trimethylated histone H3 'Lys-36' (H3K36me3), on PAF1C targets, self-renewal and pluripotency genes. Regulates RNA polymerase II promoter-proximal pause release of the PAF1C targets and self-renewal genes, and the levels of elongating ('Ser-2' phosphorylated) RNA polymerase II in their gene bodies. Regulates muscle specification in adult stem cells by stabilizing PAF1C in chromatin to promote myogenic differentiation (By similarity). Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643, PubMed:28541300). SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). Acts as a transcriptional regulator by binding to the GJA1/Cx43 promoter and enhancing its up-regulation by ESR1/ER-alpha (By similarity). NA Belongs to the PHF5 family. Spliceosome;mRNA Splicing - Major Pathway PE1 22 +NX_Q7RTV2 Glutathione S-transferase A5 222 25722 7.74 0 Cytoplasm NA NA NA Belongs to the GST superfamily. Alpha family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Glutathione conjugation PE1 6 +NX_Q7RTV3 Zinc finger protein 367 350 38411 8.07 0 Nucleoplasm;Nucleus NA Transcriptional activator.;May be involved in transcriptional activation of erythroid genes. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 9 +NX_Q7RTV5 Peroxiredoxin-like 2C 226 24857 9.07 0 NA NA May regulate positively ERK1/2 signaling and AKT1 activation leading to HIF1A up-regulation with an increased expression of glycolysis genes and enhanced glycolysis. NA Belongs to the peroxiredoxin-like PRXL2 family. PRXL2C subfamily. NA PE1 9 +NX_Q7RTW8 Otoancorin 1153 128533 5.53 0 Apical cell membrane;Extracellular matrix Deafness, autosomal recessive, 22 May act as an adhesion molecule. NA Belongs to the stereocilin family. Post-translational modification: synthesis of GPI-anchored proteins PE1 16 +NX_Q7RTX0 Taste receptor type 1 member 3 852 93386 6.75 7 Cell membrane NA Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). TAS1R2/TAS1R3 recognizes diverse natural and synthetic sweeteners. TAS1R3 is essential for the recognition and response to the disaccharide trehalose (By similarity). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses. NA Belongs to the G-protein coupled receptor 3 family. TAS1R subfamily. Taste transduction;Carbohydrate digestion and absorption;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 1 +NX_Q7RTX1 Taste receptor type 1 member 1 841 93074 8.32 7 Cell membrane NA Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses. NA Belongs to the G-protein coupled receptor 3 family. TAS1R subfamily. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE2 1 +NX_Q7RTX7 Cation channel sperm-associated protein 4 472 54092 5.15 6 Flagellum membrane NA Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte. NA Belongs to the cation channel sperm-associated (TC 1.A.1.19) family. Sperm Motility And Taxes PE1 1 +NX_Q7RTX9 Monocarboxylate transporter 14 510 56254 6.45 12 Endoplasmic reticulum;Cell membrane NA Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane. NA Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. NA PE1 2 +NX_Q7RTY0 Monocarboxylate transporter 13 426 44992 6.44 12 Golgi apparatus;Cytosol;Golgi apparatus membrane;Cell membrane Diabetes mellitus, non-insulin-dependent Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane. NA Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. NA PE1 17 +NX_Q7RTY1 Monocarboxylate transporter 9 509 55794 8.25 12 Nucleoplasm;Cell junction;Cell membrane NA Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane. NA Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. NA PE1 10 +NX_Q7RTY3 Putative serine protease 45 260 29329 8.42 0 NA NA NA NA Belongs to the peptidase S1 family. NA PE5 3 +NX_Q7RTY5 Serine protease 48 328 35970 7.49 0 Secreted NA NA NA Belongs to the peptidase S1 family. NA PE2 4 +NX_Q7RTY7 Ovochymase-1 1134 125066 8.67 0 Secreted NA NA NA Belongs to the peptidase S1 family. NA PE1 12 +NX_Q7RTY8 Transmembrane protease serine 7 843 94415 8.84 1 Cell membrane NA Serine protease which preferentially hydrolyzes peptides with Arg at the P1 position. N-glycosylated. Belongs to the peptidase S1 family. NA PE1 3 +NX_Q7RTY9 Serine protease 41 318 35078 9.36 0 Cell membrane NA NA N-glycosylated. Belongs to the peptidase S1 family. Post-translational modification: synthesis of GPI-anchored proteins PE1 16 +NX_Q7RTZ1 Ovochymase-2 564 62642 7.22 0 Secreted NA NA NA Belongs to the peptidase S1 family. NA PE1 11 +NX_Q7RTZ2 Ubiquitin carboxyl-terminal hydrolase 17-like protein 1 530 59590 7.81 0 Endoplasmic reticulum;Nucleus NA Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection. NA Belongs to the peptidase C19 family. USP17 subfamily. Ub-specific processing proteases PE2 8 +NX_Q7Z2D5 Phospholipid phosphatase-related protein type 4 763 82983 9 6 Membrane NA Hydrolyzes lysophosphatidic acid (LPA). Facilitates axonal outgrowth during development and regenerative sprouting. In the outgrowing axons acts as an ecto-enzyme and attenuates phospholipid-induced axon collapse in neurons and facilitates outgrowth in the hippocampus. NA Belongs to the PA-phosphatase related phosphoesterase family. Lysosphingolipid and LPA receptors PE1 1 +NX_Q7Z2E3 Aprataxin 356 40740 9.27 0 Nucleoplasm;Cytoplasm;Nucleolus Ataxia-oculomotor apraxia syndrome DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair (PubMed:15380105, PubMed:15044383, PubMed:16964241, PubMed:17276982, PubMed:24362567). Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non-ligatable breaks induced by reactive oxygen species (PubMed:16964241, PubMed:24362567). Catalyzes the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined (PubMed:16964241, PubMed:17276982, PubMed:24362567). Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity (PubMed:16547001). Likewise, catalyzes the release of 3'-linked guanosine (DNAppG) and inosine (DNAppI) from DNA, but has higher specific activity with 5'-linked adenosine (AppDNA) (By similarity). APTX is phosphorylated by PRKCG (Phosphothreonine:PTM-0254) NA NA PE1 9 +NX_Q7Z2F6 Putative protein ZNF720 126 14454 4.9 0 Nucleoplasm;Cytosol NA NA NA NA Generic Transcription Pathway PE1 16 +NX_Q7Z2G1 Histone H2B type W-T 175 19618 10.69 0 Nucleus membrane;Chromosome NA Atypical histone H2B. Nucleosomes containing it are structurally and dynamically indistinguishable from those containing conventional H2B. However, unlike conventional H2B, does not recruit chromosome condensation factors and does not participate in the assembly of mitotic chromosomes. May be important for telomere function. NA Belongs to the histone H2B family. Systemic lupus erythematosus PE1 X +NX_Q7Z2H8 Proton-coupled amino acid transporter 1 476 53076 6.54 11 Endoplasmic reticulum;Lysosome membrane;Cell membrane NA Neutral amino acid/proton symporter. Has a pH-dependent electrogenic transport activity for small amino acids such as glycine, alanine and proline. Besides small apolar L-amino acids, it also recognizes their D-enantiomers and selected amino acid derivatives such as gamma-aminobutyric acid (By similarity). NA Belongs to the amino acid/polyamine transporter 2 family. Protein digestion and absorption;Amino acid transport across the plasma membrane;Proton-coupled neutral amino acid transporters PE1 5 +NX_Q7Z2K6 Endoplasmic reticulum metallopeptidase 1 904 100231 7.2 9 Endoplasmic reticulum membrane NA Within the ovary, required for the organization of somatic cells and oocytes into discrete follicular structures. NA Belongs to the peptidase M28 family. NA PE1 9 +NX_Q7Z2K8 G protein-regulated inducer of neurite outgrowth 1 1008 102399 8.33 0 Cytoplasmic vesicle;Growth cone;Cell membrane NA May be involved in neurite outgrowth. Palmitoylation on Cys-999 and/or Cys-1000 is required for membrane targeting. NA MECP2 regulates neuronal receptors and channels PE1 5 +NX_Q7Z2Q7 Leucine-rich repeat-containing protein 70 622 70301 9.02 1 Membrane NA Renders cells highly sensitive to the activation by cytokines and lipopolysaccharide (LPS). NA NA NA PE1 5 +NX_Q7Z2R9 Putative uncharacterized protein SSBP3-AS1 100 10995 12.15 0 Secreted NA NA NA NA NA PE5 1 +NX_Q7Z2T5 TRMT1-like protein 733 81747 8.11 0 Nucleoplasm;Nucleolus NA May play a role in motor coordination and exploratory behavior. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. Trm1 family. NA PE1 1 +NX_Q7Z2V1 Protein TNT 217 23111 6.41 0 NA NA NA NA NA NA PE1 16 +NX_Q7Z2W4 Zinc finger CCCH-type antiviral protein 1 902 101431 8.72 0 Golgi apparatus;Cytoplasm;Cytosol;Nucleus NA Acts as a positive regulator of DDX58/RIG-I signaling resulting in activation of the downstream effector IRF3 leading to the expression of type I IFNs and IFN stimulated genes (ISGs).;Antiviral protein which inhibits the replication of viruses by recruiting the cellular RNA degradation machineries to degrade the viral mRNAs. Binds to a ZAP-responsive element (ZRE) present in the target viral mRNA, recruits cellular poly(A)-specific ribonuclease PARN to remove the poly(A) tail, and the 3'-5' exoribonuclease complex exosome to degrade the RNA body from the 3'-end. It also recruits the decapping complex DCP1-DCP2 through RNA helicase p72 (DDX17) to remove the cap structure of the viral mRNA to initiate its degradation from the 5'-end. Its target viruses belong to families which include retroviridae: human immunodeficiency virus type 1 (HIV-1), moloney and murine leukemia virus (MoMLV) and xenotropic MuLV-related virus (XMRV), filoviridae: ebola virus (EBOV) and marburg virus (MARV), togaviridae: sindbis virus (SINV) and Ross river virus (RRV). Specifically targets the multiply spliced but not unspliced or singly spliced HIV-1 mRNAs for degradation.;Is a more potent viral inhibitor than isoform 2. Phosphorylation at Ser-275 is essential for sequential phosphorylation of Ser-271, Ser-267, Ser-263 and Ser-257 by GSK3-beta. Phosphorylation by GSK3-beta enhances its antiviral activity (By similarity). NA Signaling by BRAF and RAF fusions PE1 7 +NX_Q7Z2W7 Transient receptor potential cation channel subfamily M member 8 1104 127685 6.91 6 Endoplasmic reticulum membrane;Membrane raft;Cell membrane NA Negatively regulate menthol- and cold-induced channel activity by stabilizing the closed state of the channel.;Receptor-activated non-selective cation channel involved in detection of sensations such as coolness, by being activated by cold temperature below 25 degrees Celsius. Activated by icilin, eucalyptol, menthol, cold and modulation of intracellular pH. Involved in menthol sensation. Permeable for monovalent cations sodium, potassium, and cesium and divalent cation calcium. Temperature sensing is tightly linked to voltage-dependent gating. Activated upon depolarization, changes in temperature resulting in graded shifts of its voltage-dependent activation curves. The chemical agonist menthol functions as a gating modifier, shifting activation curves towards physiological membrane potentials. Temperature sensitivity arises from a tenfold difference in the activation energies associated with voltage-dependent opening and closing. In prostate cancer cells, shows strong inward rectification and high calcium selectivity in contrast to its behavior in normal cells which is characterized by outward rectification and poor cationic selectivity. Plays a role in prostate cancer cell migration (PubMed:25559186). NA Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM8 sub-subfamily. TRP channels PE1 2 +NX_Q7Z2W9 39S ribosomal protein L21, mitochondrial 205 22815 9.91 0 Nucleoplasm;Mitochondrion NA NA NA Belongs to the bacterial ribosomal protein bL21 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 11 +NX_Q7Z2X4 PTB-containing, cubilin and LRP1-interacting protein 250 28272 6.53 0 Endoplasmic reticulum;Cytoplasm NA Increases proliferation of preadipocytes without affecting adipocytic differentiation. NA NA NA PE1 2 +NX_Q7Z2X7 P antigen family member 2 111 12090 4 0 NA NA NA NA Belongs to the GAGE family. NA PE1 X +NX_Q7Z2Y5 Nik-related protein kinase 1582 178479 5.93 0 Nucleoplasm;Cytoplasm;Cytosol NA May phosphorylate cofilin-1 and induce actin polymerization through this process, during the late stages of embryogenesis. Involved in the TNF-alpha-induced signaling pathway (By similarity). NA Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. NA PE1 X +NX_Q7Z2Y8 Interferon-induced very large GTPase 1 2422 279048 6.12 0 Cytosol;Nucleus NA NA NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. Very large inducible GTPase (VLIG) family. NA PE1 11 +NX_Q7Z2Z1 Treslin 1910 210857 9 0 Nucleoplasm;Nucleus NA Regulator of DNA replication and S/M and G2/M checkpoints. Regulates the triggering of DNA replication initiation via its interaction with TOPBP1 by participating in CDK2-mediated loading of CDC45L onto replication origins. Required for the transition from pre-replication complex (pre-RC) to pre-initiation complex (pre-IC). Required to prevent mitotic entry after treatment with ionizing radiation. NA Belongs to the treslin family. NA PE1 15 +NX_Q7Z2Z2 Elongation factor-like GTPase 1 1120 125430 5.66 0 Cytosol Shwachman-Diamond syndrome 2 Involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with SBDS, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Has low intrinsic GTPase activity. GTPase activity is increased by contact with 60S ribosome subunits. NA Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. Ribosome biogenesis in eukaryotes PE1 15 +NX_Q7Z304 MAM domain-containing protein 2 686 77556 5.05 0 Endoplasmic reticulum;Nucleus speckle;Extracellular matrix;Cell membrane NA NA O-glycosylated. NA NA PE1 9 +NX_Q7Z309 Protein FAM122B 247 26928 5.98 0 Nucleoplasm;Nucleus NA NA Are phosphorylated on Ser-62 and Ser-64. Belongs to the FAM122 family. NA PE1 X +NX_Q7Z333 Probable helicase senataxin 2677 302880 6.83 0 Cytoplasm;Growth cone;Nucleolus;Chromosome;Nucleoplasm;Telomere;Axon;Nucleus;Cytoskeleton Amyotrophic lateral sclerosis 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription (PubMed:19515850, PubMed:21700224). Contributes to the mRNA splicing efficiency and splice site selection (PubMed:19515850). Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination (PubMed:19515850, PubMed:21700224, PubMed:26700805). Required for the 3' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress (PubMed:17562789). In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage (PubMed:24105744). Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription (PubMed:21112256). Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis (PubMed:21576111). Sumoylated preferentially with SUMO2 or SUMO3 (PubMed:24105744, PubMed:24244371).;Ubiquitinated. Belongs to the DNA2/NAM7 helicase family. NA PE1 9 +NX_Q7Z340 Zinc finger protein 551 670 77515 8.73 0 Nucleoplasm;Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q7Z353 Highly divergent homeobox 690 77206 5.61 0 Cytosol;Nucleus NA NA NA NA NA PE1 X +NX_Q7Z388 Probable C-mannosyltransferase DPY19L4 723 83756 8.41 12 Membrane;Endoplasmic reticulum NA Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins. NA Belongs to the dpy-19 family. NA PE1 8 +NX_Q7Z392 Trafficking protein particle complex subunit 11 1133 128881 6.72 0 cis-Golgi network;Golgi apparatus Muscular dystrophy, limb-girdle, autosomal recessive 18 Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage. NA Belongs to the TRAPPC11 family. RAB GEFs exchange GTP for GDP on RABs PE1 4 +NX_Q7Z398 Zinc finger protein 550 422 48381 8.95 0 Cytoplasmic vesicle;Nucleus;Cytoskeleton NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q7Z3B0 Small integral membrane protein 15 74 8625 9.82 1 Membrane NA NA NA Belongs to the SMIM15 family. NA PE1 5 +NX_Q7Z3B1 Neuronal growth regulator 1 354 38719 5.84 0 Cytoplasmic vesicle;Cytosol;Cell membrane;Cytoskeleton NA May be involved in cell-adhesion. May function as a trans-neural growth-promoting factor in regenerative axon sprouting in the mammalian brain (By similarity). NA Belongs to the immunoglobulin superfamily. IgLON family. Cell adhesion molecules (CAMs);Post-translational modification: synthesis of GPI-anchored proteins PE1 1 +NX_Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1105 121025 9 0 Kinetochore;Nucleoplasm;Nucleus Koolen-De Vries syndrome As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription. NA NA HATs acetylate histones PE1 17 +NX_Q7Z3B4 Nucleoporin p54 507 55435 6.53 0 Nucleoplasm;Nucleus membrane;Nuclear pore complex NA Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane. O-glycosylated. Belongs to the NUP54 family. RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 4 +NX_Q7Z3C6 Autophagy-related protein 9A 839 94447 6.19 6 Autophagosome membrane;Endoplasmic reticulum membrane;trans-Golgi network membrane;Endoplasmic reticulum;Cytoplasmic vesicle;Late endosome membrane NA Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for formation of the sequestering vesicle. Cycles between a juxta-nuclear trans-Golgi network compartment and late endosomes. Nutrient starvation induces accumulation on autophagosomes. Starvation-dependent trafficking requires ULK1, ATG13 and SUPT20H. NA Belongs to the ATG9 family. Macroautophagy PE1 2 +NX_Q7Z3D4 LysM and putative peptidoglycan-binding domain-containing protein 3 306 34538 5.62 1 Membrane;Cytosol NA NA NA NA NA PE1 5 +NX_Q7Z3D6 D-glutamate cyclase, mitochondrial 616 66437 6.32 0 Mitochondrion matrix;Mitochondrion;Cytosol NA D-glutamate cyclase that converts D-glutamate to 5-oxo-D-proline. NA Belongs to the D-glutamate cyclase family. NA PE1 14 +NX_Q7Z3E1 Protein mono-ADP-ribosyltransferase TIPARP 657 76227 6.19 0 Nucleus;Cytoskeleton NA ADP-ribosyltransferase that mediates mono-ADP-ribosylation of glutamate, aspartate and cysteine residues on target proteins (PubMed:23275542, PubMed:25043379, PubMed:30373764). Acts as a negative regulator of AHR by mediating mono-ADP-ribosylation of AHR, leading to inhibit transcription activator activity of AHR (PubMed:23275542, PubMed:30373764). Auto-mono-ADP-ribosylated. NA NA PE1 3 +NX_Q7Z3E2 Coiled-coil domain-containing protein 186 898 103687 5.94 0 Golgi apparatus NA NA NA NA NA PE1 10 +NX_Q7Z3E5 LisH domain-containing protein ARMC9 818 91819 5.83 0 Cytoplasm;Cilium;Cilium basal body;Centriole Joubert syndrome 30 Acts as a positive regulator of hedgehog (Hh)signaling (By similarity). Involved in ciliogenesis (By similarity). May participate in the trafficking and/or retention of GLI2 and GLI3 proteins at the ciliary tip (By similarity). NA NA NA PE1 2 +NX_Q7Z3F1 Integral membrane protein GPR155 870 96919 6.42 17 Membrane;Endosome;Nucleus;Cytosol NA NA NA NA NA PE1 2 +NX_Q7Z3G6 Prickle-like protein 2 844 95615 7.12 0 Golgi apparatus;Cytoplasmic vesicle;Nucleus membrane NA NA NA Belongs to the prickle / espinas / testin family. Wnt signaling pathway PE1 3 +NX_Q7Z3H0 Photoreceptor ankyrin repeat protein 452 49403 8.17 0 Cytosol;Nucleus NA Acts as a transcriptional repressor for CRX-activated photoreceptor gene regulation. NA NA NA PE2 12 +NX_Q7Z3H4 Sterile alpha motif domain-containing protein 7 446 49112 6.32 0 Cytoplasm;Nucleus NA Involved in the regulation of gene expression in the retina. It functions as a negative regulator of CRX-controlled genes. NA NA NA PE1 3 +NX_Q7Z3I7 Zinc finger protein 572 529 61238 8.32 0 Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 8 +NX_Q7Z3J2 VPS35 endosomal protein sorting factor-like 963 109563 6.82 1 Cytoplasm;Mitochondrion;Membrane;Endosome;Nucleus NA (Microbial infection) The heterotrimeric retriever complex, in collaboration with the CCC complex, mediates the exit of human papillomavirus to the cell surface.;Acts as component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1) (PubMed:28892079). The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes (PubMed:28892079). In the endosomes, drives the retrieval and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of numerous cell surface proteins associated with processes that include cell migration, cell adhesion, nutrient supply and cell signaling (PubMed:28892079). Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association with the CCC complex and cooperation with the WASH complex on early endosomes. Seems not to be required for CCC complex stability (PubMed:25355947). NA Belongs to the VPS35L family. Neutrophil degranulation PE1 16 +NX_Q7Z3J3 RanBP2-like and GRIP domain-containing protein 4 1758 197289 5.9 0 NA NA NA NA NA NA PE1 2 +NX_Q7Z3K3 Pogo transposable element with ZNF domain 1410 155344 7.14 0 Cytoplasm;Nucleoplasm;Nucleus;Chromosome White-Sutton syndrome Plays a role in mitotic cell cycle progression and is involved in kinetochore assembly and mitotic sister chromatid cohesion. Probably through its association with CBX5 plays a role in mitotic chromosome segregation by regulating aurora kinase B/AURKB activation and AURKB and CBX5 dissociation from chromosome arms. NA NA NA PE1 1 +NX_Q7Z3K6 Mesoderm induction early response protein 3 550 61437 4.42 0 Nucleoplasm;Nucleus NA Transcriptional repressor. NA NA NA PE1 5 +NX_Q7Z3Q1 Solute carrier family 46 member 3 461 51519 5.56 11 Cell membrane;Membrane;Endosome;Cytosol;Cytoskeleton NA NA NA Belongs to the major facilitator superfamily. SLC46A family. NA PE1 13 +NX_Q7Z3S7 Voltage-dependent calcium channel subunit alpha-2/delta-4 1137 127938 5.18 1 Membrane Retinal cone dystrophy 4 The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. May be proteolytically processed into subunits alpha-2-4 and delta-4 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role (By similarity). Belongs to the calcium channel subunit alpha-2/delta family. MAPK signaling pathway;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 12 +NX_Q7Z3S9 Notch homolog 2 N-terminal-like protein A 236 25835 5.44 0 Cytoplasm;Secreted NA Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29856954, PubMed:29856955, PubMed:29561261). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954). Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954). Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (By similarity). Cleaved by ELANE. Belongs to the NOTCH family. NA PE1 1 +NX_Q7Z3T1 Olfactory receptor 2W3 314 34789 8.92 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q7Z3T8 Zinc finger FYVE domain-containing protein 16 1539 168903 4.67 0 Early endosome membrane;Cytoplasm;Cytosol;Cytoplasmic vesicle NA May be involved in regulating membrane trafficking in the endosomal pathway. Overexpression induces endosome aggregation. Required to target TOM1 to endosomes. NA NA Signaling by BMP PE1 5 +NX_Q7Z3U7 Protein MON2 homolog 1717 190359 5.72 0 Nucleoplasm;Nucleolus NA May be required for traffic between late Golgi and early endosomes. NA Belongs to the MON2 family. NA PE1 12 +NX_Q7Z3V4 Ubiquitin-protein ligase E3B 1068 123098 8.51 0 Nucleus speckle;Mitochondrion Kaufman oculocerebrofacial syndrome E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. NA NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation PE1 12 +NX_Q7Z3V5 Zinc finger protein 571 609 70792 8.71 0 Nucleoplasm;Nucleolus;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q7Z3Y7 Keratin, type I cytoskeletal 28 464 50567 5.33 0 Cytoplasm NA Essential for the proper assembly of types I and II keratin protein complexes and the formation of keratin intermediate filaments in the inner root sheath (irs). NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_Q7Z3Y8 Keratin, type I cytoskeletal 27 459 49822 4.98 0 Cytoplasm NA Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs). NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_Q7Z3Y9 Keratin, type I cytoskeletal 26 468 51911 4.86 0 NA NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_Q7Z3Z0 Keratin, type I cytoskeletal 25 450 49318 5 0 Cytoplasmic vesicle;Cytoplasm Woolly hair autosomal recessive 3 Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs) (By similarity). Plays a role in the cytoskeleton organization (PubMed:26902920). NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_Q7Z3Z2 Protein RD3 195 22704 7.73 0 Cytoplasm;Photoreceptor inner segment;Photoreceptor outer segment;Endosome;Perinuclear region;Nucleus Leber congenital amaurosis 12 Plays a critical role in the regulation of enzymes involved in nucleotide cycle in photoreceptors (PubMed:29515371, PubMed:21928830, PubMed:21078983, PubMed:27471269, PubMed:30559291). Inhibits the basal catalytic activity and the GCAP-stimulated activity of GUCY2D and GUCY2F, two retinal guanylyl cyclases involved in the production of cGMP in photoreceptors (PubMed:21928830, PubMed:27471269, PubMed:29515371, PubMed:30559291). Involved in the transport of GUCY2D and GUCY2F to their target sites in the photoreceptor outer segment (PubMed:21078983). Up-regulates the activity of GUK1, a kinase that plays also an essential role for recycling GMP and indirectly, cGMP (PubMed:29515371). Plays an important role for the survival of rods and cones in the retina (By similarity). NA NA NA PE1 1 +NX_Q7Z3Z3 Piwi-like protein 3 882 101089 9.56 0 Cytoplasm NA May play a role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation (By similarity). NA Belongs to the argonaute family. Piwi subfamily. Dorso-ventral axis formation PE1 22 +NX_Q7Z3Z4 Piwi-like protein 4 852 96589 9.09 0 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons (By similarity). Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements (By similarity). Associates with secondary piRNAs antisense and PIWIL2/MILI is required for such association (By similarity). The piRNA process acts upstream of known mediators of DNA methylation (By similarity). Does not show endonuclease activity (By similarity). Plays a key role in the piRNA amplification loop, also named ping-pong amplification cycle, by acting as a 'slicer-incompetent' component that loads cleaved piRNAs from the 'slicer-competent' component PIWIL2 and target them on genomic transposon loci in the nucleus (By similarity). May be involved in the chromatin-modifying pathway by inducing 'Lys-9' methylation of histone H3 at some loci (PubMed:17544373). In addition to its role in germline, PIWIL4 also plays a role in the regulation of somatic cells activities. Plays a role in pancreatic beta cell function and insulin secretion (By similarity). Involved in maintaining cell morphology and functional integrity of retinal epithelial through Akt/GSK3alpha/beta signaling pathway (PubMed:28025795). When overexpressed, acts as an oncogene by inhibition of apoptosis and promotion of cells proliferation in tumors (PubMed:22483988). Arginine methylation by PRMT5 is required for the interaction with Tudor domain-containing protein (TDRD1, TDRKH/TDRD2 and TDRD9) and subsequent localization to the meiotic nuage, also named P granule. Belongs to the argonaute family. Piwi subfamily. Dorso-ventral axis formation;PIWI-interacting RNA (piRNA) biogenesis PE1 11 +NX_Q7Z401 C-myc promoter-binding protein 1863 209244 7.07 0 Nucleoplasm;Nucleolus;Nucleus NA Probable guanine nucleotide exchange factor (GEF) which may activate RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. According to PubMed:8056341, it may bind to ISRE-like element (interferon-stimulated response element) of MYC P2 promoter. NA NA RAB GEFs exchange GTP for GDP on RABs PE1 15 +NX_Q7Z402 Transmembrane channel-like protein 7 723 83502 8.74 9 Membrane;Cytoplasmic vesicle NA Probable ion channel. NA Belongs to the TMC family. NA PE1 16 +NX_Q7Z403 Transmembrane channel-like protein 6 805 90045 8.98 10 Endoplasmic reticulum membrane Epidermodysplasia verruciformis 1 Probable ion channel. NA Belongs to the TMC family. Neutrophil degranulation PE1 17 +NX_Q7Z404 Transmembrane channel-like protein 4 712 79208 9.16 9 Membrane NA Probable ion channel. NA Belongs to the TMC family. NA PE1 19 +NX_Q7Z406 Myosin-14 1995 227871 5.52 0 Nucleoplasm Peripheral neuropathy, myopathy, hoarseness, and hearing loss;Deafness, autosomal dominant, 4A Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Tight junction;Regulation of actin cytoskeleton;Salmonella infection;Viral myocarditis;EPHA-mediated growth cone collapse;RHO GTPases activate PKNs;Sema4D induced cell migration and growth-cone collapse;RHO GTPases activate CIT;RHO GTPases activate PAKs;RHO GTPases Activate ROCKs PE1 19 +NX_Q7Z407 CUB and sushi domain-containing protein 3 3707 406000 5.63 2 Cell membrane NA Involved in dendrite development. NA Belongs to the CSMD family. NA PE1 8 +NX_Q7Z408 CUB and sushi domain-containing protein 2 3487 380039 5.69 1 Cell membrane NA NA NA Belongs to the CSMD family. NA PE1 1 +NX_Q7Z410 Transmembrane protease serine 9 1059 114021 8.46 1 Cell membrane NA Serase-1 and serase-2 are serine proteases that hydrolyze the peptides N-t-Boc-Gln-Ala-Arg-AMC and N-t-Boc-Gln-Gly-Arg-AMC. In contrast, N-t-Boc-Ala-Phe-Lys-AMC and N-t-Boc-Ala-Pro-Ala-AMC are not significantly hydrolyzed. Proteolytically cleaved to generate 3 independent serine protease chains. The cleaved chains may remain attached to the membrane thanks to disulfide bonds. It is unclear whether cleavage always takes place. Belongs to the peptidase S1 family. NA PE1 19 +NX_Q7Z412 Peroxisome assembly protein 26 305 33898 5.94 1 Peroxisome membrane Peroxisome biogenesis disorder 7B;Peroxisome biogenesis disorder 7A;Peroxisome biogenesis disorder complementation group 8 Probably required for protein import into peroxisomes. Anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Involved in the import of catalase and proteins containing a PTS2 target sequence, but not in import of proteins with a PTS1 target sequence. NA Belongs to the peroxin-26 family. Peroxisome;Peroxisomal protein import;Class I peroxisomal membrane protein import PE1 22 +NX_Q7Z417 Nuclear fragile X mental retardation-interacting protein 2 695 76121 8.7 0 Cytoplasm;Stress granule;Nucleoplasm;Cytosol;Nucleus NA Binds RNA. NA NA NA PE1 17 +NX_Q7Z418 Potassium channel subfamily K member 18 384 43671 6.6 4 Cell membrane Migraine with or without aura 13 Outward rectifying potassium channel. Produces rapidly activating outward rectifier K(+) currents. May function as background potassium channel that sets the resting membrane potential. Channel activity is directly activated by calcium signal. Activated by the G(q)-protein coupled receptor pathway. The calcium signal robustly activates the channel via calcineurin, whereas the anchoring of 14-3-3/YWHAH interferes with the return of the current to the resting state after activation. Inhibited also by arachidonic acid and other naturally occurring unsaturated free fatty acids. Channel activity is also enhanced by volatile anesthetics, such as isoflurane. Appears to be the primary target of hydroxy-alpha-sanshool, an ingredient of Schezuan pepper. May be involved in the somatosensory function with special respect to pain sensation (By similarity). N-glycosylated.;Phosphorylation of Ser-252 is required for the binding of 14-3-3eta/YWHAH. Calcineurin-mediated dephosphorylation of Ser-264 enhances channel activity (By similarity). Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. TWIK-related spinal cord K+ channel (TRESK);Phase 4 - resting membrane potential PE1 10 +NX_Q7Z419 E3 ubiquitin-protein ligase RNF144B 303 33697 7.62 1 Mitochondrion membrane;Cytoplasm;Mitochondrion;Nucleolus NA E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates such as LCMT2, thereby promoting their degradation. Induces apoptosis via a p53/TP53-dependent but caspase-independent mechanism. However, its overexpression also produces a decrease of the ubiquitin-dependent stability of BAX, a pro-apoptotic protein, ultimately leading to protection of cell death; But, it is not an anti-apoptotic protein per se. Auto-ubiquitinated. Belongs to the RBR family. RNF144 subfamily. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 6 +NX_Q7Z422 SUZ domain-containing protein 1 152 16997 8.92 0 Nucleoplasm;Cytosol NA NA NA Belongs to the SZRD1 family. NA PE1 1 +NX_Q7Z429 Protein lifeguard 1 371 41203 5.21 7 Membrane;Cytosol;Nucleolus NA Potential apoptotic regulator. NA Belongs to the BI1 family. LFG subfamily. NA PE1 8 +NX_Q7Z434 Mitochondrial antiviral-signaling protein 540 56528 5.36 1 Mitochondrion outer membrane;Peroxisome;Mitochondrion NA Required for innate immune defense against viruses (PubMed:16125763, PubMed:16127453, PubMed:16153868, PubMed:16177806, PubMed:19631370, PubMed:20451243, PubMed:23087404). Acts downstream of DHX33, DDX58/RIG-I and IFIH1/MDA5, which detect intracellular dsRNA produced during viral replication, to coordinate pathways leading to the activation of NF-kappa-B, IRF3 and IRF7, and to the subsequent induction of antiviral cytokines such as IFN-beta and RANTES (CCL5) (PubMed:16125763, PubMed:16127453, PubMed:16153868, PubMed:16177806, PubMed:19631370, PubMed:20451243, PubMed:23087404, PubMed:25636800). Peroxisomal and mitochondrial MAVS act sequentially to create an antiviral cellular state (PubMed:20451243). Upon viral infection, peroxisomal MAVS induces the rapid interferon-independent expression of defense factors that provide short-term protection, whereas mitochondrial MAVS activates an interferon-dependent signaling pathway with delayed kinetics, which amplifies and stabilizes the antiviral response (PubMed:20451243). May activate the same pathways following detection of extracellular dsRNA by TLR3 (PubMed:16153868). May protect cells from apoptosis (PubMed:16125763). (Microbial infection) Cleaved by Seneca Valley virus protease 3C allowing the virus to suppress interferon type-I production.;Ubiquitinated (PubMed:19881509, PubMed:23087404, PubMed:25636800). Undergoes 'Lys-48'-linked polyubiquitination catalyzed by ITCH; ITCH-dependent polyubiquitination is mediated by the interaction with PCBP2 and leads to MAVS/IPS1 proteasomal degradation (PubMed:19881509). Ubiquitinated by RNF125, leading to its degradation by the proteasome (PubMed:17460044). Undergoes 'Lys-48'-linked ubiquitination catalyzed by SMURF1 (PubMed:23087404).;(Microbial infection) Cleaved and degraded by hepatitis A virus (HAV) protein 3ABC allowing the virus to disrupt the activation of host IRF3 through the MDA5 pathway.;Following activation, phosphorylated by TBK1 at Ser-442 in the pLxIS motif (PubMed:25636800, PubMed:27302953). The phosphorylated pLxIS motif constitutes an IRF3-binding motif, leading to recruitment of the transcription factor IRF3 to induce type-I interferons and other cytokines (PubMed:25636800). NA RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Hepatitis C;Measles;Influenza A;Herpes simplex infection;TRAF6 mediated IRF7 activation;TRAF6 mediated NF-kB activation;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Negative regulators of DDX58/IFIH1 signaling;TRAF3-dependent IRF activation pathway;NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10;Ovarian tumor domain proteases PE1 20 +NX_Q7Z442 Polycystic kidney disease protein 1-like 2 2459 272514 5.51 12 Membrane NA May function as an ion-channel regulator. May function as a G-protein-coupled receptor. NA Belongs to the polycystin family. NA PE1 16 +NX_Q7Z443 Polycystic kidney disease protein 1-like 3 1732 195894 8.78 12 Cell membrane NA Component of a calcium channel. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect. NA Belongs to the polycystin family. NA PE1 16 +NX_Q7Z444 GTPase ERas 233 25287 6.1 0 Cell membrane NA Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the tumor-like growth properties of embryonic stem cells (By similarity). NA Belongs to the small GTPase superfamily. Ras family. NA PE1 X +NX_Q7Z449 Cytochrome P450 2U1 544 61987 8.63 5 Microsome membrane;Golgi apparatus;Endoplasmic reticulum membrane;Nucleoplasm;Cytoplasmic vesicle Spastic paraplegia 56, autosomal recessive Catalyzes the hydroxylation of arachidonic acid, docosahexaenoic acid and other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes. NA Belongs to the cytochrome P450 family. Arachidonic acid metabolism;Metabolic pathways;Miscellaneous substrates;Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE);Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) PE1 4 +NX_Q7Z460 CLIP-associating protein 1 1538 169451 9.14 0 trans-Golgi network;Centrosome;Spindle;Kinetochore;Cytoskeleton NA Microtubule plus-end tracking protein that promotes the stabilization of dynamic microtubules. Involved in the nucleation of noncentrosomal microtubules originating from the trans-Golgi network (TGN). Required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. May act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus-ends to cortical platforms composed of ERC1 and PHLDB2. This cortical microtubule stabilizing activity is regulated at least in part by phosphatidylinositol 3-kinase signaling. Also performs a similar stabilizing function at the kinetochore which is essential for the bipolar alignment of chromosomes on the mitotic spindle. NA Belongs to the CLASP family. Separation of Sister Chromatids;Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Recruitment of NuMA to mitotic centrosomes;Role of ABL in ROBO-SLIT signaling;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;AURKA Activation by TPX2 PE1 2 +NX_Q7Z465 Bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein 357 39713 5.26 0 Cytosol NA May be a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. NA NA NA PE1 1 +NX_Q7Z478 ATP-dependent RNA helicase DHX29 1369 155236 8.3 0 Cytoplasm;Cytosol NA ATP-binding RNA helicase involved in translation initiation. Part of the 43S pre-initiation complex that is required for efficient initiation on mRNAs of higher eukaryotes with structured 5'-UTRs by promoting efficient NTPase-dependent 48S complex formation. Specifically binds to the 40S ribosome near the mRNA entrance. Does not possess a processive helicase activity. NA Belongs to the DEAD box helicase family. DEAH subfamily. NA PE1 5 +NX_Q7Z494 Nephrocystin-3 1330 150864 6.31 0 Cilium Nephronophthisis 3;Meckel syndrome 7;Renal-hepatic-pancreatic dysplasia 1 Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements. NA NA Trafficking of myristoylated proteins to the cilium PE1 3 +NX_Q7Z4B0 Putative uncharacterized protein encoded by LINC00305 112 12600 9.98 0 Secreted NA NA NA NA NA PE5 18 +NX_Q7Z4F1 Low-density lipoprotein receptor-related protein 10 713 76193 5.3 1 Coated pit;Nucleoplasm;Membrane;Nucleolus NA Probable receptor, which is involved in the internalization of lipophilic molecules and/or signal transduction. May be involved in the uptake of lipoprotein APOE in liver (By similarity). NA Belongs to the LDLR family. Retinoid metabolism and transport PE1 14 +NX_Q7Z4G1 COMM domain-containing protein 6 85 9638 5.69 0 Cytoplasm;Nucleus NA May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). Down-regulates activation of NF-kappa-B. Inhibits TNF-induced NFKB1 activation. NA NA Neddylation PE1 13 +NX_Q7Z4G4 tRNA (guanine(10)-N2)-methyltransferase homolog 463 53421 7.65 0 Nucleus NA Catalytic subunit of an S-adenosyl-L-methionine-dependent tRNA methyltransferase complex that mediates the methylation of the guanosine nucleotide at position 10 (m2G10) in tRNAs. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. TRM11 methyltransferase family. tRNA modification in the nucleus and cytosol PE1 6 +NX_Q7Z4H3 HD domain-containing protein 2 204 23390 5.33 0 Nucleoplasm;Nucleolus NA NA NA Belongs to the HDDC2 family. NA PE1 6 +NX_Q7Z4H4 Protein ADM2 148 15865 11.81 0 Secreted NA Intermedin-short: May play a role as physiological regulators of gastrointestinal, cardiovascular bioactivities mediated by the CALCRL/RAMPs receptor complexes. Activates the cAMP-dependent pathway.;Adrenomedullin-2: May play a role as physiological regulators of gastrointestinal, cardiovascular bioactivities mediated by the CALCRL/RAMPs receptor complexes. Activates the cAMP-dependent pathway. NA Belongs to the adrenomedullin family. G alpha (s) signalling events;Calcitonin-like ligand receptors PE1 22 +NX_Q7Z4H7 HAUS augmin-like complex subunit 6 955 108621 6.04 0 Nucleus speckle;Centriolar satellite;Centrosome;Cytosol;Spindle;Cytoskeleton NA Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. Promotes the nucleation of microtubules from the spindle through recruitment of NEDD1 and gamma-tubulin. Phosphorylated during mitosis. Belongs to the HAUS6 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 9 +NX_Q7Z4H8 Protein O-glucosyltransferase 3 507 58572 8.42 0 Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum lumen NA Protein glucosyltransferase that catalyzes the transfer of glucose from UDP-glucose to a serine residue within the consensus sequence peptide C-X-N-T-X-G-S-F-X-C (PubMed:30127001). Can also catalyze the transfer of xylose from UDP-xylose but less efficiently (PubMed:30127001). Specifically targets extracellular EGF repeats of proteins such as NOTCH1 and NOTCH3 (PubMed:30127001). May regulate the transport of NOTCH1 and NOTCH3 to the plasma membrane and thereby the Notch signaling pathway (PubMed:30127001). NA Belongs to the KDELC family. Protein modification; protein glycosylation. PE1 11 +NX_Q7Z4H9 Protein FAM220A 259 28021 8.86 0 Cytoplasmic vesicle;Nucleus NA May negatively regulate STAT3. NA NA NA PE2 7 +NX_Q7Z4I7 LIM and senescent cell antigen-like-containing domain protein 2 341 38916 8.44 0 Focal adhesion;Nucleus;Cell membrane Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue Adapter protein in a cytoplasmic complex linking beta-integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Plays a role in modulating cell spreading and migration. NA NA Cell-extracellular matrix interactions PE1 2 +NX_Q7Z4J2 Putative glycosyltransferase 6 domain-containing protein 1 276 32608 9.26 1 Membrane NA NA NA Belongs to the glycosyltransferase 6 family. NA PE5 9 +NX_Q7Z4K8 Tripartite motif-containing protein 46 759 83424 7.99 0 Axon;Cytoskeleton NA Microtubule-associated protein that is involved in the formation of parallel microtubule bundles linked by cross-bridges in the proximal axon. Required for the uniform orientation and maintenance of the parallel microtubule fascicles, which are important for efficient cargo delivery and trafficking in axons. Thereby also required for proper axon specification, the establishment of neuronal polarity and proper neuronal migration. NA Belongs to the TRIM/RBCC family. Interferon gamma signaling PE1 1 +NX_Q7Z4L0 Cytochrome c oxidase subunit 8C, mitochondrial 72 8129 12.08 1 Mitochondrion inner membrane NA This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. NA Belongs to the cytochrome c oxidase VIII family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease PE2 14 +NX_Q7Z4L5 Tetratricopeptide repeat protein 21B 1316 150937 6.53 0 Mitochondrion;Cilium axoneme Nephronophthisis 12;Joubert syndrome 11;Short-rib thoracic dysplasia 4 with or without polydactyly Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs). Essential for retrograde trafficking of IFT-1, IFT-B and GPCRs (PubMed:27932497). Negatively modulates the SHH signal transduction (By similarity). NA Belongs to the TTC21 family. Intraflagellar transport;Hedgehog 'off' state PE1 2 +NX_Q7Z4L9 Protein phosphatase 1 regulatory subunit 42 309 35480 8.79 0 Centrosome;Cytoskeleton NA Regulates phosphatase activity of protein phosphatase 1 (PP1) complexes in the testis. Phosphorylated; in the testis. NA NA PE2 8 +NX_Q7Z4M0 Meiotic recombination protein REC114 266 29155 5.48 0 NA NA Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with IHO1/CCDC36 and MEI4, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis. NA Belongs to the REC114 family. NA PE1 15 +NX_Q7Z4N2 Transient receptor potential cation channel subfamily M member 1 1603 182178 6.4 9 Golgi apparatus;Centriolar satellite;Cell membrane Night blindness, congenital stationary, 1C Cation channel essential for the depolarizing photoresponse of retinal ON bipolar cells. It is part of the GRM6 signaling cascade. May play a role in metastasis suppression (By similarity). May act as a spontaneously active, calcium-permeable plasma membrane channel. NA Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM1 sub-subfamily. TRP channels PE1 15 +NX_Q7Z4N8 Prolyl 4-hydroxylase subunit alpha-3 544 61126 6.05 0 Endoplasmic reticulum lumen NA Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins. N-glycosylation plays no role in the catalytic activity. Belongs to the P4HA family. Arginine and proline metabolism;Metabolic pathways;Collagen biosynthesis and modifying enzymes PE1 11 +NX_Q7Z4P5 Growth/differentiation factor 7 450 46950 9.9 0 Secreted NA May play an active role in the motor area of the primate neocortex. NA Belongs to the TGF-beta family. TGF-beta signaling pathway PE1 2 +NX_Q7Z4Q2 HEAT repeat-containing protein 3 680 74583 5.02 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 16 +NX_Q7Z4R8 UPF0669 protein C6orf120 191 20772 4.75 0 Secreted NA May be involved in induction of apoptosis in CD4(+) T-cells, but not CD8(+) T-cells or hepatocytes. NA Belongs to the UPF0669 family. Neutrophil degranulation PE1 6 +NX_Q7Z4S6 Kinesin-like protein KIF21A 1674 187179 6.05 0 Cytosol;Cell membrane;Cytoskeleton Fibrosis of extraocular muscles, congenital, 1 Microtubule-binding motor protein probably involved in neuronal axonal transport. In vitro, has a plus-end directed motor activity (By similarity). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 12 +NX_Q7Z4S9 SH2 domain-containing protein 6 175 19279 9.18 0 NA NA NA NA NA NA PE1 2 +NX_Q7Z4T8 Inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 443 51427 8.88 1 Late endosome membrane NA Probable inactive glycosyltransferase required during spermatid development. May participate in protein loading into the acrosomes and accumulation of ubiquitin-proteasome systems around the head-tail coupling apparatus region. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 7 +NX_Q7Z4T9 Cilia- and flagella-associated protein 91 767 89955 8.73 0 Cytoplasm;Mitochondrion;Cilium axoneme NA May play a role in spermatogenesis (PubMed:12223483). May regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity). Phosphorylated by PKA. NA NA PE1 3 +NX_Q7Z4U5 Uncharacterized protein C6orf201 140 16243 10.39 0 NA NA NA NA NA NA PE2 6 +NX_Q7Z4V0 Zinc finger protein 438 828 91836 9.49 0 Nucleoplasm;Cytosol;Nucleus NA Acts as a transcriptional repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 10 +NX_Q7Z4V5 Hepatoma-derived growth factor-related protein 2 671 74317 7.11 0 Nucleoplasm;Mitochondrion;Nucleus NA Involved in cellular growth control, through the regulation of cyclin D1 expression. NA Belongs to the HDGF family. NA PE1 19 +NX_Q7Z4W1 L-xylulose reductase 244 25913 8.33 0 Membrane;Nucleolus;Cytoskeleton Pentosuria Catalyzes the NADPH-dependent reduction of several pentoses, tetroses, trioses, alpha-dicarbonyl compounds and L-xylulose. Participates in the uronate cycle of glucose metabolism. May play a role in the water absorption and cellular osmoregulation in the proximal renal tubules by producing xylitol, an osmolyte, thereby preventing osmolytic stress from occurring in the renal tubules. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Pentose and glucuronate interconversions;Metabolic pathways;Formation of xylulose-5-phosphate;Essential pentosuria PE1 17 +NX_Q7Z4W2 Lysozyme-like protein 2 148 16656 8.04 0 Secreted NA NA NA Belongs to the glycosyl hydrolase 22 family. NA PE1 10 +NX_Q7Z4W3 Keratin-associated protein 19-3 81 8247 8.57 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 19 family. Keratinization PE2 21 +NX_Q7Z4Y8 Putative ATP synthase subunit g 2, mitochondrial 100 11037 9.91 0 Mitochondrion membrane NA Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane (By similarity). NA Belongs to the ATPase g subunit family. NA PE5 22 +NX_Q7Z553 MAM domain-containing glycosylphosphatidylinositol anchor protein 2 956 107436 6.88 0 Cell membrane NA May be involved in cell-cell interactions. NA NA Post-translational modification: synthesis of GPI-anchored proteins PE1 14 +NX_Q7Z569 BRCA1-associated protein 592 67305 5.64 0 Cytoplasm;Cytosol;Nucleus membrane NA Negatively regulates MAP kinase activation by limiting the formation of Raf/MEK complexes probably by inactivation of the KSR1 scaffold protein. Also acts as a Ras responsive E3 ubiquitin ligase that, on activation of Ras, is modified by auto-polyubiquitination resulting in the release of inhibition of Raf/MEK complex formation. May also act as a cytoplasmic retention protein with a role in regulating nuclear transport. NA NA Protein modification; protein ubiquitination.;Negative regulation of MAPK pathway;RAF activation;Signaling by moderate kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 12 +NX_Q7Z570 Zinc finger protein 804A 1209 136888 8.19 0 Endoplasmic reticulum NA NA NA NA NA PE2 2 +NX_Q7Z572 Spermatogenesis-associated protein 21 469 52207 6.74 0 Cytoplasmic vesicle;Cytosol NA Involved in the differentiation of haploid spermatids. NA NA NA PE2 1 +NX_Q7Z589 BRCA2-interacting transcriptional repressor EMSY 1322 141468 9.37 0 Nucleoplasm;Nucleus NA Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin. Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2. As part of a histone H3-specific methyltransferase complex may mediate ligand-dependent transcriptional activation by nuclear hormone receptors. O-glycosylated during cytokinesis at sites identical or close to phosphorylation sites, this interferes with the phosphorylation status. NA NA PE1 11 +NX_Q7Z591 Microtubule organization protein AKNA 1439 155139 5.91 0 Nucleoplasm;Centrosome;Nucleus;Centriole NA Centrosomal protein that plays a key role in cell delamination by regulating microtubule organization (By similarity). Required for the delamination and retention of neural stem cells from the subventricular zone during neurogenesis (By similarity). Also regulates the epithelial-to-mesenchymal transition in other epithelial cells (By similarity). Acts by increasing centrosomal microtubule nucleation and recruiting nucleation factors and minus-end stabilizers, thereby destabilizing microtubules at the adherens junctions and mediating constriction of the apical endfoot (By similarity). In addition, may also act as a transcription factor that specifically activates the expression of the CD40 receptor and its ligand CD40L/CD154, two cell surface molecules on lymphocytes that are critical for antigen-dependent-B-cell development (PubMed:11268217). Binds to A/T-rich promoters (PubMed:11268217). It is unclear how it can both act as a microtubule organizer and as a transcription factor; additional evidences are required to reconcile these two apparently contradictory functions (Probable). Phosphorylated; phosphorylation regulates dissociation from and reassembly at the centrosome. Belongs to the AKNA family. NA PE1 9 +NX_Q7Z5A4 Putative serine protease 42 293 32006 6.93 0 Cytoplasm;Cell membrane NA Plays a role in spermatogenesis. Involved in germ cell survival during meiosis. NA Belongs to the peptidase S1 family. NA PE5 3 +NX_Q7Z5A7 Chemokine-like protein TAFA-5 132 14301 9.32 0 Secreted NA Acts as a chemokine-like protein by regulating cell proliferation and migration through activation of G protein-coupled receptors (GPCRs), such as S1PR2 and FPR2 (By similarity). Stimulates chemotactic migration of macrophages mediated by the MAPK3/ERK1 and AKT1 pathway (By similarity). Blocks TNFSF11/RANKL-induced osteoclast formation from macrophages by inhibiting up-regulation of osteoclast fusogenic and differentiation genes (By similarity). Stimulation of macrophage migration and inhibition of osteoclast formation is mediated via GPCR FPR2 (By similarity). Acts as an adipokine by negatively regulating vascular smooth muscle cell (VSMC) proliferation and migration in response to platelet-derived growth factor stimulation via GPCR S1PR2 and G protein GNA12/GNA13-transmitted RHOA signaling (By similarity). Inhibits injury-induced cell proliferation and neointima formation in the femoral arteries (By similarity). NA Belongs to the TAFA family. NA PE1 22 +NX_Q7Z5A8 Chemokine-like protein TAFA-3 133 14776 8.71 0 Secreted NA Plays a role in the regulation of microglia polarization. NA Belongs to the TAFA family. NA PE2 1 +NX_Q7Z5A9 Chemokine-like protein TAFA-1 133 14901 8.49 0 Endoplasmic reticulum;Secreted NA Regulatory factor which is ligand for GPR1 and is involved in the modulation of neural stem-cell proliferation and differentiation. NA Belongs to the TAFA family. NA PE1 3 +NX_Q7Z5B4 Protein RIC-3 369 41092 5.04 1 Endoplasmic reticulum membrane;Golgi apparatus membrane NA Promotes functional expression of homomeric alpha-7 and alpha-8 nicotinic acetylcholine receptors at the cell surface. May also promote functional expression of homomeric serotoninergic 5-HT3 receptors, and of heteromeric acetylcholine receptors alpha-3/beta-2, alpha-3/beta-4, alpha-4/beta-2 and alpha-4/beta-4. NA Belongs to the ric-3 family. NA PE1 11 +NX_Q7Z5D8 NANOG neighbor homeobox 188 22750 9.73 0 Nucleus NA NA NA NA NA PE2 12 +NX_Q7Z5G4 Golgin subfamily A member 7 137 15824 6.6 0 Golgi apparatus membrane NA May be involved in protein transport from Golgi to cell surface. The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS. Palmitoylated on Cys-69 and Cys-72; which is required for Golgi localization and interaction with GOLGA3. Belongs to the ERF4 family. Neutrophil degranulation PE1 8 +NX_Q7Z5H3 Rho GTPase-activating protein 22 698 76779 8.4 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Rho GTPase-activating protein involved in the signal transduction pathway that regulates endothelial cell capillary tube formation during angiogenesis. Acts as a GTPase activator for the RAC1 by converting it to an inactive GDP-bound state. Inhibits RAC1-dependent lamellipodia formation. May also play a role in transcription regulation via its interaction with VEZF1, by regulating activity of the endothelin-1 (EDN1) promoter (By similarity). NA NA Rho GTPase cycle PE1 10 +NX_Q7Z5H4 Vomeronasal type-1 receptor 5 357 40779 9.35 7 Cell membrane NA Putative pheromone receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 1 +NX_Q7Z5H5 Vomeronasal type-1 receptor 4 301 33557 9.58 7 Cell membrane NA Putative pheromone receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 19 +NX_Q7Z5J1 Hydroxysteroid 11-beta-dehydrogenase 1-like protein 315 34288 9.76 0 Cytoplasmic vesicle;Secreted NA NA NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. NA PE1 19 +NX_Q7Z5J4 Retinoic acid-induced protein 1 1906 203352 9.03 0 Nucleoplasm;Cytoplasm;Nucleus Smith-Magenis syndrome Transcriptional regulator of the circadian clock components: CLOCK, ARNTL/BMAL1, ARNTL2/BMAL2, PER1/3, CRY1/2, NR1D1/2 and RORA/C. Positively regulates the transcriptional activity of CLOCK a core component of the circadian clock. Regulates transcription through chromatin remodeling by interacting with other proteins in chromatin as well as proteins in the basic transcriptional machinery. May be important for embryonic and postnatal development. May be involved in neuronal differentiation. NA NA Circadian Clock PE1 17 +NX_Q7Z5J8 Ankyrin and armadillo repeat-containing protein 1434 162026 8.39 1 Membrane;Nucleoplasm;Centriolar satellite NA NA NA NA NA PE1 2 +NX_Q7Z5K2 Wings apart-like protein homolog 1190 132946 5.27 0 Cytoplasm;Nucleus;Chromosome NA Regulator of sister chromatid cohesion in mitosis which negatively regulates cohesin association with chromatin. Involved in both sister chromatid cohesion during interphase and sister-chromatid resolution during early stages of mitosis. Couples DNA replication to sister chromatid cohesion. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. NA Belongs to the WAPL family. Separation of Sister Chromatids;Establishment of Sister Chromatid Cohesion;Cohesin Loading onto Chromatin;Resolution of Sister Chromatid Cohesion PE1 10 +NX_Q7Z5L0 Vitelline membrane outer layer protein 1 homolog 202 21534 4.9 0 Secreted NA NA NA Belongs to the VMO1 family. NA PE1 17 +NX_Q7Z5L2 Coiled-coil domain-containing protein R3HCC1L 792 87883 5.05 0 Nucleoplasm;Nucleus speckle NA NA NA NA NA PE1 10 +NX_Q7Z5L3 Complement C1q-like protein 2 287 29468 5.5 0 Secreted NA May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity). NA NA NA PE1 2 +NX_Q7Z5L4 Spermatogenesis-associated protein 19, mitochondrial 167 19186 6.44 0 Mitochondrion outer membrane NA May have a role in spermiogenesis. NA NA NA PE1 11 +NX_Q7Z5L7 Podocan 613 68976 6.51 0 Cytoplasm;Extracellular matrix NA Negatively regulates cell proliferation and cell migration. N-glycosylated. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class V subfamily. NA PE1 1 +NX_Q7Z5L9 Interferon regulatory factor 2-binding protein 2 587 61025 9 0 Cytoplasm;Nucleoplasm;Nucleus Immunodeficiency, common variable, 14 Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities (PubMed:12799427). Represses the NFAT1-dependent transactivation of NFAT-responsive promoters (PubMed:21576369). Acts as a coactivator of VEGFA expression in cardiac and skeletal muscles (PubMed:20702774). Plays a role in immature B-cell differentiation (PubMed:27016798). Phosphorylation at Ser-360 is required for nuclear targeting. Belongs to the IRF2BP family. NA PE1 1 +NX_Q7Z5M5 Transmembrane channel-like protein 3 1100 125685 9.28 10 Membrane;Cytosol NA Probable ion channel. NA Belongs to the TMC family. NA PE2 15 +NX_Q7Z5M8 Protein ABHD12B 362 40776 8.57 0 Nucleoplasm NA NA NA Belongs to the serine esterase family. NA PE2 14 +NX_Q7Z5N4 Protein sidekick-1 2213 242112 5.99 1 Cytosol;Synapse;Cell membrane NA Adhesion molecule that promotes lamina-specific synaptic connections in the retina. Expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions. NA Belongs to the sidekick family. SDK interactions PE1 7 +NX_Q7Z5P4 17-beta-hydroxysteroid dehydrogenase 13 300 33655 9.14 0 Golgi apparatus;Endoplasmic reticulum;Cytoplasmic vesicle;Lipid droplet NA NA NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Lipid particle organization PE1 4 +NX_Q7Z5P9 Mucin-19 8384 805253 4.97 0 Secreted NA May function in ocular mucus homeostasis. NA NA O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1) PE1 12 +NX_Q7Z5Q1 Cytoplasmic polyadenylation element-binding protein 2 589 64944 6.78 0 Cytoplasm;Cytosol NA May play a role in translational regulation of stored mRNAs in transcriptionally inactive haploid spermatids. Binds to poly(U) RNA oligomers (By similarity). Required for cell cycle progression, specifically for the transition from metaphase to anaphase (PubMed:26398195). NA Belongs to the RRM CPEB family. NA PE1 4 +NX_Q7Z5Q5 DNA polymerase nu 900 100307 8.57 0 Nucleoplasm;Nucleus NA DNA polymerase with very low fidelity that catalyzes considerable misincorporation by inserting dTTP opposite a G template, and dGTP opposite a T template (PubMed:16787914, PubMed:17118716). Is the least accurate of the DNA polymerase A family (i.e. POLG, POLN and POLQ) (PubMed:17118716). Can perform accurate translesion DNA synthesis (TLS) past a 5S-thymine glycol. Can perform efficient strand displacement past a nick or a gap and gives rise to an amount of product similar to that on non-damaged template. Has no exonuclease activity (PubMed:16787914). Error-prone DNA polymerase that preferentially misincorporates dT regardless of template sequence (PubMed:25775266). May play a role in TLS during interstrand cross-link (ICL) repair (PubMed:19908865). May be involved in TLS when genomic replication is blocked by extremely large major groove DNA lesions. May function in the bypass of some DNA-protein and DNA-DNA cross-links. May have a role in cellular tolerance to DNA cross-linking agents (PubMed:20102227). Involved in the repair of DNA cross-links and double-strand break (DSB) resistance. Participates in FANCD2-mediated repair. Forms a complex with HELQ helicase that participates in homologous recombination (HR) repair and is essential for cellular protection against DNA cross-links (PubMed:19995904). NA Belongs to the DNA polymerase type-A family. Fanconi Anemia Pathway PE1 4 +NX_Q7Z5R6 Amyloid beta A4 precursor protein-binding family B member 1-interacting protein 666 73183 5.39 0 Cell membrane;Focal adhesion;Lamellipodium;Cytosol;Cytoskeleton NA Appears to function in the signal transduction from Ras activation to actin cytoskeletal remodeling. Suppresses insulin-induced promoter activities through AP1 and SRE. Mediates Rap1-induced adhesion. NA Belongs to the MRL family. MAP2K and MAPK activation;Integrin alphaIIb beta3 signaling;GRB2:SOS provides linkage to MAPK signaling for Integrins;p130Cas linkage to MAPK signaling for integrins;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 10 +NX_Q7Z5S9 Transmembrane protein 144 345 37653 6.63 10 Membrane;Mitochondrion NA NA NA Belongs to the TMEM144 family. NA PE2 4 +NX_Q7Z5U6 WD repeat-containing protein 53 358 38989 6.07 0 Cytosol;Cell membrane NA NA NA Belongs to the WD repeat WDR53 family. NA PE1 3 +NX_Q7Z5V6 Protein phosphatase 1 regulatory subunit 32 425 47295 8.74 0 NA NA NA NA NA NA PE1 11 +NX_Q7Z5W3 RNA 5'-monophosphate methyltransferase 292 33200 6.22 0 Nucleoplasm;Cytosol;Cytoplasm NA O-methyltransferase that specifically monomethylates 5'-monophosphate of cytoplasmic histidyl tRNA, acting as a capping enzyme (PubMed:28119416). Less efficiently, also methylates the 5' monophosphate of pre-miRNAs, acting as a negative regulator of miRNA processing (PubMed:23063121, PubMed:28119416). The 5' monophosphate of pre-miRNAs is recognized by DICER1 and is required for pre-miRNAs processing: methylation at this position reduces the processing of pre-miRNAs by DICER1. Able to mediate methylation of pre-miR-145, as well as other pre-miRNAs (PubMed:23063121). There is some controversy about the methylation of pre-miR-145, since the dimethylation first described as the specific enzymatic activity cannot be reproduced by a more recent work which observes a monomehtylation of pre-miR-145 but two orders weaker than the methylation of cytosolic histidyl tRNA (PubMed:23063121, PubMed:28119416, PubMed:30127802). NA Belongs to the methyltransferase superfamily. MicroRNA (miRNA) biogenesis PE1 12 +NX_Q7Z5Y6 Bone morphogenetic protein 8A 402 44798 9.06 0 Secreted NA Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity). Signaling protein involved in regulation of thermogenesis and energy balance. Proposed to increase the peripheral response of brown adipose tissue (BAT) to adrenergic stimulation while acting centrally in the hypothalamus to increase sympathetic output to BAT. NA Belongs to the TGF-beta family. Hedgehog signaling pathway;TGF-beta signaling pathway PE2 1 +NX_Q7Z5Y7 BTB/POZ domain-containing protein KCTD20 419 47480 5.16 0 Endoplasmic reticulum;Cytoplasm;Nucleus speckle NA Promotes the phosphorylation of AKT family members. NA NA NA PE1 6 +NX_Q7Z601 Probable G-protein coupled receptor 142 462 51106 9.52 7 Cytosol;Cell junction;Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 17 +NX_Q7Z602 Probable G-protein coupled receptor 141 305 35464 9.41 7 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 7 +NX_Q7Z614 Sorting nexin-20 316 36178 8.94 0 Cytoplasm;Cell membrane;Nucleoplasm;Early endosome membrane;Nucleus NA May play a role in cellular vesicle trafficking. Has been proposed to function as a sorting protein that targets SELPLG into endosomes, but has no effect on SELPLG internalization from the cell surface, or on SELPLG-mediated cell-cell adhesion. NA Belongs to the sorting nexin family. NA PE1 16 +NX_Q7Z624 Calmodulin-lysine N-methyltransferase 323 36128 6.38 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Nucleus Hypotonia-cystinuria syndrome Catalyzes the trimethylation of 'Lys-116' in calmodulin. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. CLNMT methyltransferase family. Inactivation, recovery and regulation of the phototransduction cascade;Protein methylation PE1 2 +NX_Q7Z628 Neuroepithelial cell-transforming gene 1 protein 596 67740 9.31 0 Nucleoplasm;Cytoplasm;Nucleus;Cytoplasmic vesicle NA Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase. May be involved in activation of the SAPK/JNK pathway Stimulates genotoxic stress-induced RHOB activity in breast cancer cells leading to their cell death. NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 10 +NX_Q7Z692 Carcinoembryonic antigen-related cell adhesion molecule 19 300 32638 5.74 1 Membrane;Nucleoplasm;Mitochondrion;Nucleolus NA NA NA Belongs to the immunoglobulin superfamily. CEA family. NA PE2 19 +NX_Q7Z695 Uncharacterized aarF domain-containing protein kinase 2 626 68982 9.03 1 Membrane;Cytosol;Centrosome NA The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr). NA Belongs to the protein kinase superfamily. ADCK protein kinase family. NA PE1 7 +NX_Q7Z698 Sprouty-related, EVH1 domain-containing protein 2 418 47558 6.32 0 Cytoplasm;Cell membrane;Nucleoplasm;Secretory vesicle membrane;Cytosol NA Negatively regulates Ras signaling pathways and downstream activation of MAP kinases. Ubiquitinated; leading to degradation by the proteasome.;Phosphorylated on serine and threonine residues (PubMed:15683364). Phosphorylated on tyrosine. Phosphorylation of Tyr-228 and Tyr-231 are required for ubiquitination (PubMed:17094949). NA Jak-STAT signaling pathway;Regulation of RAS by GAPs;FGFRL1 modulation of FGFR1 signaling;Signaling by RAS mutants PE1 2 +NX_Q7Z699 Sprouty-related, EVH1 domain-containing protein 1 444 50477 6.12 0 Nucleoplasm;Caveola;Nucleus;Cell membrane Legius syndrome Tyrosine kinase substrate that inhibits growth-factor-mediated activation of MAP kinase. Negatively regulates hematopoiesis of bone marrow (By similarity). Phosphorylated on tyrosine. NA Jak-STAT signaling pathway;Regulation of RAS by GAPs;FGFRL1 modulation of FGFR1 signaling;Signaling by RAS mutants PE1 15 +NX_Q7Z6A9 B- and T-lymphocyte attenuator 289 32834 6.09 1 Cell membrane NA Inhibitory receptor on lymphocytes that negatively regulates antigen receptor signaling via PTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:12796776, PubMed:14652006, PubMed:15568026, PubMed:18193050). May interact in cis (on the same cell) or in trans (on other cells) with TNFRSF14 (PubMed:19915044). In cis interactions, appears to play an immune regulatory role inhibiting in trans interactions in naive T cells to maintain a resting state. In trans interactions, can predominate during adaptive immune response to provide survival signals to effector T cells (PubMed:19915044). N-glycosylated.;Phosphorylated on Tyr residues by TNFRSF14 and by antigen receptors cross-linking, both inducing association with PTPN6 and PTPN11. NA Costimulation by the CD28 family PE1 3 +NX_Q7Z6B0 Coiled-coil domain-containing protein 91 441 49971 5.03 0 trans-Golgi network;Golgi apparatus;trans-Golgi network membrane;Membrane;Nucleoplasm NA Involved in the regulation of membrane traffic through the trans-Golgi network (TGN). Functions in close cooperation with the GGAs in the sorting of hydrolases to lysosomes. NA NA NA PE1 12 +NX_Q7Z6B7 SLIT-ROBO Rho GTPase-activating protein 1 1085 124264 6.36 0 NA Thyroid cancer, non-medullary, 2 GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in the pathway mediating the repulsive signaling of Robo and Slit proteins in neuronal migration. SLIT2, probably through interaction with ROBO1, increases the interaction of SRGAP1 with ROBO1 and inactivates CDC42. NA NA Axon guidance;Rho GTPase cycle;Inactivation of CDC42 and RAC1 PE1 12 +NX_Q7Z6E9 E3 ubiquitin-protein ligase RBBP6 1792 201564 9.65 0 Nucleus speckle;Centrosome;Nucleolus;Chromosome NA E3 ubiquitin-protein ligase which promotes ubiquitination of YBX1, leading to its degradation by the proteasome (PubMed:18851979). May play a role as a scaffold protein to promote the assembly of the p53/TP53-MDM2 complex, resulting in increase of MDM2-mediated ubiquitination and degradation of p53/TP53; may function as negative regulator of p53/TP53, leading to both apoptosis and cell growth (By similarity). Regulates DNA-replication and the stability of chromosomal common fragile sites (CFSs) in a ZBTB38- and MCM10-dependent manner. Controls ZBTB38 protein stability and abundance via ubiquitination and proteasomal degradation, and ZBTB38 in turn negatively regulates the expression of MCM10 which plays an important role in DNA-replication (PubMed:24726359). Phosphorylated by NEK6. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 16 +NX_Q7Z6G3 N-terminal EF-hand calcium-binding protein 2 386 43194 5.33 0 Cytoplasm;Axon;Dendrite;Cell membrane NA May act as a signaling scaffold protein that senses intracellular calcium. Can modulate ligand-induced internalization of ADORA2A and coupling efficiency of mGluR5/GRM5; for both receptors may regulate signaling activity such as promoting MAPK1/3 (ERK1/2) activation. NA NA NA PE1 16 +NX_Q7Z6G8 Ankyrin repeat and sterile alpha motif domain-containing protein 1B 1248 138066 5.93 0 Cajal body;Cytoplasm;Dendritic spine;Cell membrane;Postsynaptic density;Cytoplasmic vesicle;Cytosol;Nucleus NA Can regulate global protein synthesis by altering nucleolar numbers.;May play a role as a modulator of APP processing. Overexpression can down-regulate APP processing.;May participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells. Nuclear translocation requires an NMDAR-dependent proteolytic cleavage. NA NA PE1 12 +NX_Q7Z6I5 Spermatogenesis-associated protein 12 190 20418 5.23 0 Nucleoplasm;Cytosol;Mitochondrion;Cell membrane NA NA NA NA NA PE2 3 +NX_Q7Z6I6 Rho GTPase-activating protein 30 1101 118582 4.75 0 Cytoplasmic vesicle NA GTPase-activating protein (GAP) for RAC1 and RHOA, but not for CDC42. NA NA Rho GTPase cycle PE1 1 +NX_Q7Z6I8 UPF0461 protein C5orf24 188 20132 9.87 0 Nucleoplasm NA NA NA Belongs to the UPF0461 family. NA PE1 5 +NX_Q7Z6J0 E3 ubiquitin-protein ligase SH3RF1 888 93129 8.85 0 trans-Golgi network;Lamellipodium;Cytoplasmic vesicle;Perinuclear region;Cytoskeleton NA (Microbial infection) Plays an essential role in the targeting of HIV-1 Gag to the plasma membrane, this function is dependent on it's RING domain, and hence it's E3 ligase activity.;Has E3 ubiquitin-protein ligase activity. In the absence of an external substrate, it can catalyze self-ubiquitination (PubMed:15659549, PubMed:20696164). Stimulates ubiquitination of potassium channel KCNJ1, enhancing it's dynamin-dependent and clathrin-independent endocytosis (PubMed:19710010). Acts as a scaffold protein that coordinates with MAPK8IP1/JIP1 in organizing different components of the JNK pathway, including RAC1 or RAC2, MAP3K11/MLK3 or MAP3K7/TAK1, MAP2K7/MKK7, MAPK8/JNK1 and/or MAPK9/JNK2 into a functional multiprotein complex to ensure the effective activation of the JNK signaling pathway. Regulates the differentiation of CD4(+) and CD8(+) T-cells and promotes T-helper 1 (Th1) cell differentiation. Regulates the activation of MAPK8/JNK1 and MAPK9/JNK2 in CD4(+) T-cells and the activation of MAPK8/JNK1 in CD8(+) T-cells. Plays a crucial role in the migration of neocortical neurons in the developing brain. Controls proper cortical neuronal migration and the formation of proximal cytoplasmic dilation in the leading process (PCDLP) in migratory neocortical neurons by regulating the proper localization of activated RAC1 and F-actin assembly (By similarity). Phosphorylated at Ser-304 by AKT1 and AKT2. When phosphorylated, it has reduced ability to bind Rac.;Autoubiquitinated (PubMed:20696164). Ubiquitinated by SH3RF2, leading to proteasome-mediated degradation (By similarity). Belongs to the SH3RF family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 4 +NX_Q7Z6J2 General receptor for phosphoinositides 1-associated scaffold protein 395 42623 9.01 0 Cell membrane;Postsynaptic cell membrane;Cytoplasmic vesicle;Perinuclear region;Nucleus NA Plays a role in intracellular trafficking and contributes to the macromolecular organization of group 1 metabotropic glutamate receptors (mGluRs) at synapses. NA NA NA PE1 12 +NX_Q7Z6J4 FYVE, RhoGEF and PH domain-containing protein 2 655 74892 6.51 0 Cytoplasm;Early endosome;Early endosome membrane;Ruffle membrane;Nucleus;Cytoskeleton NA Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Activates JNK1 via CDC42 but not RAC1. Binds to phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate (By similarity). NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 6 +NX_Q7Z6J6 FERM domain-containing protein 5 570 65065 8.62 1 Membrane;Adherens junction NA May be involved in regulation of cell migration (PubMed:22846708, PubMed:25448675). May regulate cell-matrix interactions via its interaction with ITGB5 and modifying ITGB5 cytoplasmic tail interactions such as with FERMT2 and TLN1. May regulate ROCK1 kinase activity possibly involved in regulation of actin stress fiber formation (PubMed:25448675). NA NA NA PE1 15 +NX_Q7Z6J8 E3 ubiquitin-protein ligase E3D 389 43657 8.51 0 Cytoplasm NA E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome. Ubiquitinated by UBCH10 (E2 ubiquitin-conjugating enzyme). NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 6 +NX_Q7Z6J9 tRNA-splicing endonuclease subunit Sen54 526 58819 8.04 0 Nucleus;Nucleolus Pontocerebellar hypoplasia 5;Pontocerebellar hypoplasia 4;Pontocerebellar hypoplasia 2A Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5' and 3' splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3' cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3'-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3'-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events. NA Belongs to the SEN54 family. tRNA processing in the nucleus PE1 17 +NX_Q7Z6K1 THAP domain-containing protein 5 395 45416 6.26 0 Nucleoplasm;Nucleus NA Has sequence-specific DNA-binding activity and can function as transcriptional repressor (in vitro) (PubMed:21110952). May be a regulator of cell cycle: THAP5 overexpression in human cell lines causes cell cycle arrest at G2/M phase (PubMed:19502560). Cleaved by HTRA2 during apoptosis. NA NA PE1 7 +NX_Q7Z6K3 Protein prenyltransferase alpha subunit repeat-containing protein 1 402 46405 6.5 0 Cytoplasm;Centriolar satellite NA NA NA Belongs to the protein prenyltransferase subunit alpha family. NA PE1 9 +NX_Q7Z6K4 Notch-regulated ankyrin repeat-containing protein 114 12492 6.82 0 Nucleoplasm;Cytosol NA Downstream effector of Notch signaling. Involved in the regulation of liver cancer cells self-renewal (PubMed:25985737). Involved in angiogenesis acting downstream of Notch at branch points to regulate vascular density. Proposed to integrate endothelial Notch and Wnt signaling to control stalk cell proliferation and to stablilize new endothelial connections during angiogenesis (PubMed:19154719). During somitogenesis involved in maintenance of proper somite segmentation and proper numbers of somites and vertebrae. Required for proper anterior-posterior somite patterning. Proposed to function in a negative feedback loop to destabilize Notch 1 intracellular domain (NICD) and downregulate the Notch signal, preventing expansion of the Notch signal into the anterior somite domain (By similarity). NA Belongs to the NRARP family. NA PE1 9 +NX_Q7Z6K5 Arpin 226 24943 5.57 0 Lamellipodium NA Regulates actin polymerization by inhibiting the actin-nucleating activity of the Arp2/3 complex; the function is competetive with nucleation promoting factors. Participates in an incoherent feedforward loop at the lamellipodium tip where it inhibits the ARP2/2 complex in response to Rac signaling and where Rac also stimulates actin polymerization through the WAVE complex. Involved in steering cell migration by controlling its directional persistence. NA Belongs to the Arpin family. NA PE1 15 +NX_Q7Z6L0 Proline-rich transmembrane protein 2 340 34945 4.64 1 Dendritic spine;Presynaptic cell membrane;Cell membrane;Synaptic vesicle membrane;Postsynaptic density;Synapse;Axon Convulsions, familial infantile, with paroxysmal choreoathetosis;Episodic kinesigenic dyskinesia 1;Seizures, benign familial infantile, 2 As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca(2+)-sensing. In the cerebellum, may inhibit SNARE complex formation and downregulate short-term facilitation. NA Belongs to the CD225/Dispanin family. NA PE1 16 +NX_Q7Z6L1 Tectonin beta-propeller repeat-containing protein 1 1165 129696 5.83 0 Autophagosome membrane;Cytoplasmic vesicle;Lysosome membrane NA Tethering factor involved in autophagy. Involved in autophagosome maturation by promoting the autophagosome fusion with lysosomes: acts by associating with both the ATG5-ATG12 conjugate and phosphatidylinositol-3-phosphate (PtdIns(3)P) present at the surface of autophagosomes. Also involved in selective autophagy against bacterial pathogens, by being required for phagophore/preautophagosomal structure biogenesis and maturation. NA Belongs to the TECPR1 family. NA PE1 7 +NX_Q7Z6M1 Rab9 effector protein with kelch motifs 372 40565 5.8 0 Cytoplasm;Cell membrane;Endosome membrane NA Rab9 effector required for endosome to trans-Golgi network (TGN) transport. Phosphorylated on Ser residues most probably by PIP5K3. NA Retrograde transport at the Trans-Golgi-Network PE1 9 +NX_Q7Z6M2 F-box only protein 33 555 62630 6.95 0 Nucleoplasm NA Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins. Recognizes YBX1 (By similarity). NA NA Protein modification; protein ubiquitination. PE1 14 +NX_Q7Z6M3 Allergin-1 343 38735 7.91 1 Cell membrane NA Immunoglobulin-like receptor which plays an inhibitory role in degranulation of mast cells. Negatively regulates IgE-mediated mast cell activation and suppresses the type I immediate hypersensitivity reaction (By similarity). N-glycosylated. NA NA PE1 17 +NX_Q7Z6M4 Transcription termination factor 4, mitochondrial 381 43958 4.71 0 Cytosol;Mitochondrion NA Regulator of mitochondrial ribosome biogenesis and translation. Binds to mitochondrial ribosomal RNAs 16S, 12S and 7S and targets NSUN4 RNA methyltransferase to the mitochondrial large ribosomal subunit (39S). The mature mitochondrial protein exists in 2 forms differing at the level of their N-terminus, one is starting at residue 43 and the other at residue 48. Belongs to the mTERF family. rRNA modification in the mitochondrion PE1 2 +NX_Q7Z6P3 Ras-related protein Rab-44 1021 110850 5 0 Cell membrane NA NA NA Belongs to the small GTPase superfamily. Rab family. Neutrophil degranulation;RAB geranylgeranylation PE1 6 +NX_Q7Z6R9 Transcription factor AP-2-delta 452 49578 8.41 0 Nucleus NA Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC (By similarity). NA Belongs to the AP-2 family. Activation of the TFAP2 (AP-2) family of transcription factors;Negative regulation of activity of TFAP2 (AP-2) family transcription factors PE2 6 +NX_Q7Z6V5 tRNA-specific adenosine deaminase 2 191 21046 6.34 0 Golgi apparatus;Nucleoplasm;Cytosol NA Probably participates in deamination of adenosine-34 to inosine in many tRNAs. NA Belongs to the cytidine and deoxycytidylate deaminase family. ADAT2 subfamily. tRNA modification in the nucleus and cytosol PE1 6 +NX_Q7Z6W1 Transmembrane and coiled-coil domain-containing protein 2 182 20071 8.9 1 Membrane NA NA NA NA NA PE1 1 +NX_Q7Z6W7 DnaJ homolog subfamily B member 7 309 35434 5.34 0 NA NA Probably acts as a co-chaperone. NA NA NA PE2 22 +NX_Q7Z6Z6 Patatin-like phospholipase domain-containing protein 5 429 47912 6.31 0 NA NA Lipid hydrolase. NA NA Triglyceride catabolism PE2 22 +NX_Q7Z6Z7 E3 ubiquitin-protein ligase HUWE1 4374 481891 5.1 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol Mental retardation, X-linked, syndromic, Turner type E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15989957, PubMed:19713937, PubMed:15567145, PubMed:15767685, PubMed:18488021, PubMed:17567951, PubMed:19037095, PubMed:20534529). Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1 (PubMed:15989957). Mediates monoubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair (PubMed:19713937). Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4 (PubMed:15567145, PubMed:15767685, PubMed:15989956). Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN (PubMed:18488021). May regulate abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation (PubMed:17567951). Mediates polyubiquitination of isoform 2 of PA2G4 (PubMed:19037095). Acts in concert with MYCBP2 to regulate the circadian clock gene expression by promoting the lithium-induced ubiquination and degradation of NR1D1 (PubMed:20534529). Phosphorylated on tyrosine; phosphorylation is probably required for its ability to inhibit TP53 transactivation. Belongs to the UPL family. TOM1/PTR1 subfamily. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neutrophil degranulation PE1 X +NX_Q7Z713 Ankyrin repeat domain-containing protein 37 158 16872 5.75 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cytosol;Nucleus NA NA NA NA NA PE2 4 +NX_Q7Z736 Pleckstrin homology domain-containing family H member 3 793 85317 8.07 0 Golgi apparatus NA NA NA NA NA PE1 17 +NX_Q7Z739 YTH domain-containing family protein 3 585 63861 9.07 0 Cytoplasm;Cytosol;Nucleus speckle;Nucleus membrane NA Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs and promotes RNA translation efficiency (PubMed:28106072, PubMed:28106076, PubMed:28281539). M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in the efficiency of mRNA splicing, processing and stability (PubMed:22575960, PubMed:24284625, PubMed:28106072, PubMed:28106076, PubMed:28281539). Shares m6A-containing mRNAs targets with YTHDF1 and YTHDF2, and regulates different processes depending on the context (PubMed:28106072, PubMed:28106076). Facilitates the translation of targeted mRNAs in cooperation with YTHDF1 by binding to m6A-containing mRNAs and interacting with 40S and 60S ribosome subunits (PubMed:28106072, PubMed:28106076). Acts as a negative regulator of type I interferon response by down-regulating interferon-stimulated genes (ISGs) expression: acts by binding to FOXO3 mRNAs and promoting their translation. Binds to FOXO3 mRNAs independently of METTL3-mediated m6A modification (By similarity). Can also act as a regulator of mRNA stability in cooperation with YTHDF2 by binding to m6A-containing mRNA and promoting their degradation (PubMed:28106072). Recognizes and binds m6A-containing circular RNAs (circRNAs) and promotes their translation (PubMed:28281539). CircRNAs are generated through back-splicing of pre-mRNAs, a non-canonical splicing process promoted by dsRNA structures across circularizing exons (PubMed:28281539). NA NA NA PE1 8 +NX_Q7Z745 Maestro heat-like repeat-containing protein family member 2B 1585 180781 5.9 0 Cytoplasm;Acrosome;Flagellum NA May play a role in the process of sperm capacitation. Constitutively phosphorylated on serine and threonine residues in acrosomal region of the sperm head, midpiece and flagellar regions of noncapacitated spermatozoa. Phosphorylation on tyrosine residues increases upon sperm capacitation within the acrosomal and tail regions in a protein kinase A (PKA)-dependent signaling pathway. NA NA PE1 5 +NX_Q7Z769 Solute carrier family 35 member E3 313 35066 9.29 9 Membrane NA Putative transporter. NA Belongs to the TPT transporter family. SLC35E subfamily. NA PE2 12 +NX_Q7Z794 Keratin, type II cytoskeletal 1b 578 61901 5.73 0 Nucleus membrane;Cell membrane NA NA Undergoes deimination of some arginine residues (citrullination). Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_Q7Z7A1 Centriolin 2325 268886 5.44 0 Cytosol;Centrosome;Midbody ring NA Involved in cell cycle progression and cytokinesis. During the late steps of cytokinesis, anchors exocyst and SNARE complexes at the midbody, thereby allowing secretory vesicle-mediated abscission. NA NA Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Signaling by FGFR1 in disease;Signaling by cytosolic FGFR1 fusion mutants;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 9 +NX_Q7Z7A3 Cytoplasmic tRNA 2-thiolation protein 1 348 36450 9.48 0 Cytoplasm NA Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). Directly binds tRNAs and probably acts by catalyzing adenylation of tRNAs, an intermediate required for 2-thiolation. It is unclear whether it acts as a sulfurtransferase that transfers sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position. NA Belongs to the TtcA family. CTU1/NCS6/ATPBD3 subfamily. tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis.;Sulfur relay system;tRNA modification in the nucleus and cytosol PE1 19 +NX_Q7Z7A4 PX domain-containing protein kinase-like protein 578 64950 9.41 0 Cytoplasm;Cytosol;Centriolar satellite;Cell membrane NA Binds to and modulates brain Na,K-ATPase subunits ATP1B1 and ATP1B3 and may thereby participate in the regulation of electrical excitability and synaptic transmission. May not display kinase activity. NA Belongs to the protein kinase superfamily. NA PE1 3 +NX_Q7Z7B0 Filamin-A-interacting protein 1 1213 138109 8.46 0 Cytoskeleton;Cell membrane NA By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone. May be able to induce the degradation of filamin-A. NA Belongs to the FILIP1 family. NA PE1 6 +NX_Q7Z7B1 Phosphatidylinositol-glycan biosynthesis class W protein 504 56882 9.31 12 Endoplasmic reticulum membrane;Cell membrane Glycosylphosphatidylinositol biosynthesis defect 11 Required for the transport of GPI-anchored proteins to the plasma membrane (PubMed:24367057). Probable acetyltransferase, which acetylates the inositol ring of phosphatidylinositol during biosynthesis of GPI-anchor. Acetylation during GPI-anchor biosynthesis is not essential for the subsequent mannosylation and is usually removed soon after the attachment of GPIs to proteins (By similarity). NA Belongs to the PIGW family. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Synthesis of glycosylphosphatidylinositol (GPI) PE1 17 +NX_Q7Z7B7 Beta-defensin 132 95 10610 9.72 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE1 20 +NX_Q7Z7B8 Beta-defensin 128 93 10650 9.08 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE2 20 +NX_Q7Z7C7 Stimulated by retinoic acid gene 8 protein homolog 330 36908 4.97 0 Cytoplasm;Nucleus NA Meiosis-inducer required for the transition into meiosis for both female and male germ cells. In female germ cells, required for premeiotic DNA replication and subsequent events in meiotic prophase. During spermatogenesis, next to its role in meiotic initiation, promotes (but is not required for) spermatogonial differentiation. Can associate with DNA (possibly in an indirect manner), and in vitro can activate DNA transcription (By similarity). Phosphorylated. NA NA PE1 7 +NX_Q7Z7C8 Transcription initiation factor TFIID subunit 8 310 34262 6.03 0 Nucleoplasm;Cytoplasm;Nucleus NA Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. Mediates both basal and activator-dependent transcription. Plays a role in the differentiation of preadipocyte fibroblasts to adipocytes, however, does not seem to play a role in differentiation of myoblasts. Required for the integration of TAF10 in the TAF complex. May be important for survival of cells of the inner cell mass which constitute the pluripotent cell population of the early embryo (By similarity). NA Belongs to the TAF8 family. Basal transcription factors;RNA polymerase II transcribes snRNA genes PE1 6 +NX_Q7Z7D3 V-set domain-containing T-cell activation inhibitor 1 282 30878 5.2 1 Cell junction;Focal adhesion;Cell membrane NA Negatively regulates T-cell-mediated immune response by inhibiting T-cell activation, proliferation, cytokine production and development of cytotoxicity. When expressed on the cell surface of tumor macrophages, plays an important role, together with regulatory T-cells (Treg), in the suppression of tumor-associated antigen-specific T-cell immunity. Involved in promoting epithelial cell transformation. N-glycosylated. Belongs to the immunoglobulin superfamily. BTN/MOG family. NA PE1 1 +NX_Q7Z7E8 Ubiquitin-conjugating enzyme E2 Q1 422 46127 4.96 0 Nucleoplasm;Filopodium;Centrosome;Cytosol;Nucleus NA Catalyzes the covalent attachment of ubiquitin to other proteins (PubMed:22496338). May be involved in hormonal homeostasis in females. Involved in regulation of B4GALT1 cell surface expression, B4GALT1-mediated cell adhesion to laminin and embryoid body formation (By similarity). Autoubiquitinated in vitro in the presence of NEDD4L. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation PE1 1 +NX_Q7Z7F0 KH homology domain-containing protein 4 614 64845 8.84 0 Cytoplasm;Nucleoplasm;Nucleus NA RNA-binding protein involved in pre-mRNA splicing (PubMed:19641227). Interacts with the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome (PubMed:19641227). Involved in regulating splice site selection (PubMed:19641227). Binds preferentially RNA with A/C rich sequences and poly-C stretches (PubMed:23144703). NA Belongs to the KHDC4 family. NA PE1 1 +NX_Q7Z7F7 39S ribosomal protein L55, mitochondrial 128 15128 11.15 0 Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mL55 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 1 +NX_Q7Z7G0 Target of Nesh-SH3 1075 118642 9.48 0 Secreted NA NA NA NA NA PE1 3 +NX_Q7Z7G1 Cytokine-dependent hematopoietic cell linker 428 49554 9.11 0 Cytoplasmic vesicle NA Plays a role in the regulation of immunoreceptor signaling, including PLC-gamma-mediated B-cell antigen receptor (BCR) signaling and FC-epsilon R1-mediated mast cell degranulation. Involved in phosphorylation of LAT (By similarity). Tyrosine-phosphorylated upon BCR cross-linking. Tyrosine phosphorylation at both Tyr-69 and Tyr-96 are required for BCR-induced calcium response and are essential to restore PLCG2-mediated signaling in BLNK-deficient DT40 cells, but this phosphorylation is dispensable in cells expressing LAT. Interacts with the SH2 domain of PLCG1 via phosphorylated Tyr-96 (By similarity). NA NA PE1 4 +NX_Q7Z7G2 Complexin-4 160 18336 4.54 0 Synapse;Cell membrane NA Complexin that regulates SNARE protein complex-mediated synaptic vesicle fusion (By similarity). Required for the maintenance of synaptic ultrastructure in the adult retina (By similarity). Positively regulates synaptic transmission through synaptic vesicle availability and exocytosis of neurotransmitters at photoreceptor ribbon synapses in the retina (By similarity). Suppresses tonic photoreceptor activity and baseline 'noise' by suppression of Ca(2+) vesicle tonic release and the facilitation of evoked synchronous and asynchronous Ca(2+) vesicle release (By similarity). Farnesylation mediates presynaptic targeting and is important for function in neurotransmitter release. Belongs to the complexin/synaphin family. Synaptic vesicle cycle PE1 18 +NX_Q7Z7G8 Vacuolar protein sorting-associated protein 13B 4022 448664 6.03 0 Cell junction Cohen syndrome May be involved in protein sorting in post Golgi membrane traffic. NA Belongs to the VPS13 family. NA PE1 8 +NX_Q7Z7H3 Ciliogenesis-associated TTC17-interacting protein 387 43900 5.28 0 Cytoplasm;Nucleus;Cytoskeleton;Cell membrane NA Plays a role in primary ciliogenesis by modulating actin polymerization. NA Belongs to the CATIP family. NA PE1 2 +NX_Q7Z7H5 Transmembrane emp24 domain-containing protein 4 227 25943 8.41 1 Endoplasmic reticulum membrane NA Involved in vesicular protein trafficking, mainly in the early secretory pathway. Targeting. Involved in the maintenance of the Golgi apparatus. Appears to play a role in the biosynthesis of secreted cargo including processing. Involved in endoplasmic reticulum stress response. May play a role in the regulation of heat-shock response and apoptosis (By similarity). NA Belongs to the EMP24/GP25L family. NA PE1 7 +NX_Q7Z7H8 39S ribosomal protein L10, mitochondrial 261 29283 9.63 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uL10 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 17 +NX_Q7Z7J5 Developmental pluripotency-associated protein 2 298 33784 9.35 0 Nucleoplasm;Nucleus NA Binds to target gene promoters, including NKX2-5 and SYCE1, but not GATA4, and may be involved in the maintenance of the active epigenetic status of these genes. NA NA NA PE1 3 +NX_Q7Z7J7 LHFPL tetraspan subfamily member 4 protein 247 27007 6.85 4 Golgi apparatus;Nucleoplasm;Dendrite;Postsynaptic cell membrane NA Plays a role in the regulation of inhibitory synapse formation and function by being involved in maintening gamma-aminobutyric acid receptors (GABAARs) clustering and their associated scaffold proteins at inhibitory synaptic sites. Acts in concert with NLGN2 to recruit or stabilize GABAARs. NA Belongs to the LHFP family. NA PE1 3 +NX_Q7Z7J9 Calcium/calmodulin-dependent protein kinase II inhibitor 1 78 8553 5.22 0 Postsynaptic density;Synaptosome NA Potent and specific inhibitor of CaM-kinase II (CAMK2). NA Belongs to the CAMK2N family. NA PE1 1 +NX_Q7Z7K0 COX assembly mitochondrial protein homolog 106 12490 8.89 0 Mitochondrion NA Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. NA Belongs to the CMC family. NA PE1 3 +NX_Q7Z7K2 Zinc finger protein 467 595 65124 9.12 0 Mitochondrion;Nucleus NA Transcription factor that promotes adipocyte differentiation and suppresses osteoblast differentiation in the bone marrow. Enhances the osteoclast-supporting ability of stromal cells. Binds with STAT3 the consensus sequence 5'-CTTCTGGGAAGA-3' of the acute phase response element (APRE). Transactivates several promoters including FOS, OSM and PPARG. Recruits a histone deacetylase complex (By similarity). NA Belongs to the krueppel C2H2-type zinc-finger protein family. Transcriptional regulation of white adipocyte differentiation PE1 7 +NX_Q7Z7K6 Centromere protein V 275 29946 9.78 0 Kinetochore;Nucleoplasm;Midbody;Cytosol;Spindle;Nucleus NA Required for distribution of pericentromeric heterochromatin in interphase nuclei and for centromere formation and organization, chromosome alignment and cytokinesis. NA Belongs to the Gfa family. NA PE1 17 +NX_Q7Z7L1 Schlafen family member 11 901 102836 8 0 Nucleoplasm;Nucleus;Chromosome NA Inhibitor of DNA replication that promotes cell death in response to DNA damage (PubMed:22927417, PubMed:26658330, PubMed:29395061). Acts as a guardian of the genome by killing cells with defective replication (PubMed:29395061). Persistently blocks stressed replication forks by opening chromatin across replication initiation sites at stressed replication forks, possibly leading to unwind DNA ahead of the MCM helicase and block fork progression, ultimately leading to cell death (PubMed:29395061). Acts independently of ATR (PubMed:29395061). Also acts as an interferon (IFN)-induced antiviral protein which acts as an inhibitor of retrovirus protein synthesis (PubMed:23000900). Specifically abrogates the production of retroviruses such as human immunodeficiency virus 1 (HIV-1) by acting as a specific inhibitor of the synthesis of retroviruses encoded proteins in a codon-usage-dependent manner (PubMed:23000900). Binds to tRNAs and exploits the unique viral codon bias towards A/T nucleotides (PubMed:23000900). The exact inhibition mechanism is unclear: may either sequester tRNAs, prevent their maturation via post-transcriptional processing or may accelerate their deacylation (PubMed:23000900). Does not inhibit reverse transcription, integration or production and nuclear export of viral RNA (PubMed:23000900). NA Belongs to the Schlafen family. Subgroup III subfamily. NA PE1 17 +NX_Q7Z7L7 Protein zer-1 homolog 766 88169 5.43 0 Cytosol NA Serves as substrate adapter subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC (PubMed:17304241, PubMed:31273098). Acts redudantly with ZYG11B to target substrates bearing N-terminal glycine degrons for proteasomal degradation. Involved in the clearance of proteolytic fragments generated by caspase cleavage during apoptosis since N-terminal glycine degrons are strongly enriched at caspase cleavage sites. Also important in the quality control of protein N-myristoylation in which N-terminal glycine degrons are conditionally exposed after a failure of N-myristoylation (PubMed:31273098). NA Belongs to the zyg-11 family. NA PE1 9 +NX_Q7Z7L8 Uncharacterized protein C11orf96 435 46114 10.04 0 Nucleoplasm;Cytosol;Focal adhesion NA NA NA NA NA PE1 11 +NX_Q7Z7L9 Zinc finger and SCAN domain-containing protein 2 614 69547 7.04 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation during the post-meiotic stages of spermatogenesis. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 15 +NX_Q7Z7M0 Multiple epidermal growth factor-like domains protein 8 2845 303100 6.45 1 Membrane Carpenter syndrome 2 Acts as a negative regulator of hedgehog signaling. NA NA NA PE1 19 +NX_Q7Z7M1 Adhesion G-protein coupled receptor D2 963 104087 8.33 7 Membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE2 9 +NX_Q7Z7M8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 397 43396 8.66 1 Golgi apparatus membrane NA Beta-1,3-N-acetylglucosaminyltransferase that plays a role in the elongation of specific branch structures of multiantennary N-glycans. Has strong activity towards tetraantennary N-glycans and 2,6 triantennary glycans. NA Belongs to the glycosyltransferase 31 family. Protein modification; protein glycosylation.;O-linked glycosylation of mucins PE1 19 +NX_Q7Z7M9 Polypeptide N-acetylgalactosaminyltransferase 5 940 106266 9.51 1 Golgi apparatus;Nucleolus;Golgi apparatus membrane;Cytoplasmic vesicle;Cytosol NA Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward EA2 peptide substrate, but has a weak activity toward Muc2 or Muc1b substrates (By similarity). NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 2 +NX_Q7Z7N9 Transmembrane protein 179B 219 23550 8.1 4 Membrane;Nucleus speckle NA NA NA Belongs to the TMEM179 family. Neutrophil degranulation PE1 11 +NX_Q86SE5 RNA-binding Raly-like protein 291 32331 7.69 0 Nucleoplasm NA NA NA Belongs to the RRM HNRPC family. RALY subfamily. NA PE1 8 +NX_Q86SE8 Nucleoplasmin-2 214 24152 4.97 0 Nucleoplasm;Nucleus;Nucleolus NA Core histones chaperone involved in chromatin reprogramming, specially during fertilization and early embryonic development. Probably involved in sperm DNA decondensation during fertilization. NA Belongs to the nucleoplasmin family. NA PE1 8 +NX_Q86SE9 Polycomb group RING finger protein 5 256 29714 6.11 0 Nucleoplasm;Nucleolus;Centrosome;Nucleus NA Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:26151332). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332). Plays a redundant role with PCGF3 as part of a PRC1-like complex that mediates monoubiquitination of histone H2A 'Lys-119' on the X chromosome and is required for normal silencing of one copy of the X chromosome in XX females (By similarity). NA NA RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 10 +NX_Q86SF2 N-acetylgalactosaminyltransferase 7 657 75389 6.67 1 Golgi apparatus;Nucleoplasm;Golgi apparatus membrane NA Glycopeptide transferase involved in O-linked oligosaccharide biosynthesis, which catalyzes the transfer of an N-acetyl-D-galactosamine residue to an already glycosylated peptide. In contrast to other proteins of the family, it does not act as a peptide transferase that transfers GalNAc onto serine or threonine residue on the protein receptor, but instead requires the prior addition of a GalNAc on a peptide before adding additional GalNAc moieties. Some peptide transferase activity is however not excluded, considering that its appropriate peptide substrate may remain unidentified. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 4 +NX_Q86SG2 Ankyrin repeat domain-containing protein 23 305 34297 9.51 0 Nucleoplasm;Nucleus;Cytoskeleton NA May be involved in the energy metabolism. Could be a molecular link between myofibrillar stretch-induced signaling pathways and muscle gene expression. NA NA NA PE1 2 +NX_Q86SG3 Deleted in azoospermia protein 4 579 64785 9.23 0 Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation. NA Belongs to the RRM DAZ family. NA PE1 Y +NX_Q86SG4 Putative Dresden prostate carcinoma protein 2 172 20403 9.89 0 NA NA NA NA NA NA PE5 15 +NX_Q86SG5 Protein S100-A7A 101 11305 6.89 0 Cytoplasm NA May be involved in epidermal differentiation and inflammation and might therefore be important for the pathogenesis of psoriasis and other diseases. NA Belongs to the S-100 family. Metal sequestration by antimicrobial proteins PE1 1 +NX_Q86SG6 Serine/threonine-protein kinase Nek8 692 74806 8.02 0 Cytoplasm;Centrosome;Cilium;Cytoskeleton Renal-hepatic-pancreatic dysplasia 2;Nephronophthisis 9 Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia (By similarity). Plays a role in organogenesis and is involved in the regulation of the Hippo signaling pathway. NA Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. NA PE1 17 +NX_Q86SG7 Lysozyme g-like protein 2 212 23498 9.03 0 Secreted NA May act as a potent antibacterial protein that may play a role in the innate immunity. NA Belongs to the glycosyl hydrolase 23 family. NA PE1 2 +NX_Q86SH2 Zygote arrest protein 1 424 45873 9.31 0 Cytoplasm NA Essential for female fertility. May play a role in the oocyte-to-embryo transition (By similarity). NA Belongs to the ZAR1 family. NA PE1 4 +NX_Q86SH4 Putative testis-specific prion protein 94 10756 9.57 0 Secreted NA NA NA NA NA PE5 20 +NX_Q86SI9 Protein CEI 138 15091 11.42 0 Golgi apparatus;Cytoplasmic vesicle;Secreted NA NA NA NA NA PE1 5 +NX_Q86SJ2 Amphoterin-induced protein 2 522 57934 8.73 1 Golgi apparatus;Cytosol;Nucleus;Cell membrane NA Required for depolarization-dependent survival of cultured cerebellar granule neurons. May mediate homophilic as well as heterophilic cell-cell interaction with AMIGO1 or AMIGO3. May contribute to signal transduction through its intracellular domain. May be required for tumorigenesis of a subset of gastric adenocarcinomas. NA Belongs to the immunoglobulin superfamily. AMIGO family. NA PE1 12 +NX_Q86SJ6 Desmoglein-4 1040 113824 4.42 1 Desmosome;Cell membrane Hypotrichosis 6 Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes (By similarity). NA NA Formation of the cornified envelope;Keratinization PE1 18 +NX_Q86SK9 Stearoyl-CoA desaturase 5 330 37610 9.65 4 Endoplasmic reticulum membrane NA Stearyl-CoA desaturase that utilizes O(2) and electrons from reduced cytochrome b5 to introduce the first double bond into saturated fatty acyl-CoA substrates. Catalyzes the insertion of a cis double bond at the delta-9 position into fatty acyl-CoA substrates including palmitoyl-CoA and stearoyl-CoA (PubMed:15907797, PubMed:15610069). Gives rise to a mixture of 16:1 and 18:1 unsaturated fatty acids. NA Belongs to the fatty acid desaturase type 1 family. Biosynthesis of unsaturated fatty acids;PPAR signaling pathway;Fatty acyl-CoA biosynthesis PE1 4 +NX_Q86SM5 Mas-related G-protein coupled receptor member G 289 31518 9.59 7 Cell membrane NA Orphan receptor. May regulate nociceptor function and/or development, including the sensation or modulation of pain (By similarity). NA Belongs to the G-protein coupled receptor 1 family. Mas subfamily. NA PE2 11 +NX_Q86SM8 Mas-related G-protein coupled receptor member E 312 34286 8.49 7 Cell membrane NA Orphan receptor. May regulate nociceptor function and/or development, including the sensation or modulation of pain. NA Belongs to the G-protein coupled receptor 1 family. Mas subfamily. NA PE2 11 +NX_Q86SP6 Probable G-protein coupled receptor 149 731 80984 6.56 7 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 3 +NX_Q86SQ0 Pleckstrin homology-like domain family B member 2 1253 142158 7.06 0 Membrane;Cytoplasm;Cytosol;Cell membrane NA Seems to be involved in the assembly of the postsynaptic apparatus. May play a role in acetyl-choline receptor (AChR) aggregation in the postsynaptic membrane (By similarity). NA NA NA PE1 3 +NX_Q86SQ3 Putative adhesion G protein-coupled receptor E4P 457 50903 8.7 7 Secreted;Cell membrane NA May mediate the cellular interaction between myeloid cells and B-cells. Glycosylated.;Proteolytically cleaved into 2 subunits, an extracellular alpha subunit and a seven-transmembrane subunit. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE5 19 +NX_Q86SQ4 Adhesion G-protein coupled receptor G6 1221 136695 8.18 7 Cell membrane Lethal congenital contracture syndrome 9 G-protein coupled receptor which is activated by type IV collagen, a major constituent of the basement membrane (By similarity). Couples to G(i)-proteins as well as G(s)-proteins (PubMed:24227709). Essential for normal differentiation of promyelinating Schwann cells and for normal myelination of axons (PubMed:24227709). Regulates neural, cardiac and ear development via G-protein- and/or N-terminus-dependent signaling (By similarity). May act as a receptor for PRNP which may promote myelin homeostasis (By similarity). Highly glycosylated.;Proteolytically cleaved into 2 conserved sites: one in the GPS domain (S1 site) and the other in the middle of the extracellular domain (S2 site). The proteolytic cleavage at S1 site generates an extracellular subunit and a seven-transmembrane subunit. Furin is involved in the cleavage of the S2 site generating a soluble fragment. Processing at the GPS domain occurred independent of and probably prior to the cleavage at the S2 site. Proteolytic cleavage is required for activation of the receptor. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE1 6 +NX_Q86SQ6 Adhesion G protein-coupled receptor A1 560 60885 8.25 7 Membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE1 10 +NX_Q86SQ7 Serologically defined colon cancer antigen 8 713 82682 5.59 0 Cytoplasm;Centriole;Cell junction;Cilium basal body;Centrosome Bardet-Biedl syndrome 16;Senior-Loken syndrome 7 Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). Plays also an essential role in ciliogenesis and subsequent Hedgehog signaling pathway that requires the presence of intact primary cilia for pathway activation. Mechanistically, interacts with and mediates RABEP2 centrosomal localization which is critical for ciliogenesis (PubMed:27224062). NA NA Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 1 +NX_Q86SQ9 Dehydrodolichyl diphosphate synthase complex subunit DHDDS 333 38657 8.56 0 Endoplasmic reticulum membrane;Cell membrane Retinitis pigmentosa 59;Developmental delay and seizures with or without movement abnormalities With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. Condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) (PubMed:25066056, PubMed:28842490). Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol (PubMed:21572394). NA Belongs to the UPP synthase family. Protein modification; protein glycosylation.;Lipid metabolism.;Terpenoid backbone biosynthesis;Synthesis of Dolichyl-phosphate;Defective DHDDS causes retinitis pigmentosa 59 PE1 1 +NX_Q86SR1 Polypeptide N-acetylgalactosaminyltransferase 10 603 68992 8.84 1 Golgi apparatus;Nucleoplasm;Golgi apparatus membrane;Cell membrane NA Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward Muc5Ac and EA2 peptide substrates. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 5 +NX_Q86SS6 Synaptotagmin-9 491 56188 6.79 1 Synaptic vesicle membrane NA May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. NA Belongs to the synaptotagmin family. Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Neurexins and neuroligins PE1 11 +NX_Q86SU0 Immunoglobulin-like domain-containing receptor 1 546 62815 9.12 1 Cytosol;Cell membrane Deafness, autosomal recessive, 42 Putative membrane receptor. NA Belongs to the immunoglobulin superfamily. LISCH7 family. NA PE1 3 +NX_Q86SX3 Tubulin epsilon and delta complex protein 1 495 54231 8.4 0 Golgi apparatus;Centriole;Cilium;Nucleoplasm;Cytosol NA Acts as a positive regulator of ciliary hedgehog signaling. Required for centriole stability (By similarity). May play a role in counteracting perturbation of actin filaments, such as after treatment with the actin depolymerizing microbial metabolite Chivosazole F (PubMed:28796488). NA NA NA PE1 14 +NX_Q86SX6 Glutaredoxin-related protein 5, mitochondrial 157 16628 6.28 0 Mitochondrion matrix;Mitochondrion Spasticity, childhood-onset, with hyperglycinemia;Anemia, sideroblastic, 3, pyridoxine-refractory Monothiol glutaredoxin involved in the biogenesis of iron-sulfur clusters (PubMed:20364084). Involved in protein lipoylation, acting in the pathway that provides an iron-sulfur cluster to lipoate synthase (PubMed:24334290). Required for normal iron homeostasis. Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1 (PubMed:20364084). May protect cells against apoptosis due to reactive oxygen species and oxidative stress (By similarity). NA Belongs to the glutaredoxin family. Monothiol subfamily. Mitochondrial iron-sulfur cluster biogenesis PE1 14 +NX_Q86SY8 Putative uncharacterized protein KTN1-AS1 53 5770 5.43 0 NA NA NA NA NA NA PE5 14 +NX_Q86SZ2 Trafficking protein particle complex subunit 6B 158 17983 8.88 0 cis-Golgi network;Endoplasmic reticulum Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy Component of a transport protein particle (TRAPP) complex that may function in specific stages of inter-organelle traffic (PubMed:16025134, PubMed:16828797). Specifically involved in the early development of neural circuitry, likely by controlling the frequency and amplitude of intracellular calcium transients implicated in the regulation of neuron differentiation and survival (Probable). NA Belongs to the TRAPP small subunits family. BET3 subfamily. COPII-mediated vesicle transport;RAB GEFs exchange GTP for GDP on RABs PE1 14 +NX_Q86T03 Type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase 277 29470 9.24 2 Phagosome membrane;Lysosome membrane;Late endosome membrane;Cell membrane NA Catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate (PtdIns-4,5-P2) to phosphatidylinositol-4-phosphate (PtdIns-4-P) (PubMed:16365287). Does not hydrolyze phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-bisphosphate, inositol 3,5-bisphosphate, inositol 3,4-bisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate (PubMed:16365287). Regulates lysosomal positioning by recruiting JIP4 to lysosomal membranes, thus inducing retrograde transport of lysosomes along microtubules (PubMed:29146937). Contributes to assembly of the V-ATPase complex in lipid rafts of the lysosomal membrane and to subsequent amino acid-dependent activation of mTORC1 (PubMed:29644770). May play a role in the regulation of cellular cholesterol metabolism (PubMed:25035345). NA NA PI5P Regulates TP53 Acetylation;Synthesis of PIPs in the nucleus PE1 14 +NX_Q86T13 C-type lectin domain family 14 member A 490 51636 5.98 1 Membrane;Golgi apparatus;Endoplasmic reticulum NA NA NA NA NA PE1 14 +NX_Q86T20 Small integral membrane protein 29 102 11550 6.49 1 Membrane NA NA NA NA NA PE1 6 +NX_Q86T23 Putative ciliary rootlet coiled-coil protein-like 1 protein 111 12396 4.45 0 NA NA NA NA Belongs to the rootletin family. NA PE5 1 +NX_Q86T24 Transcriptional regulator Kaiso 672 74484 4.97 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Transcriptional regulator with bimodal DNA-binding specificity. Binds to methylated CpG dinucleotides in the consensus sequence 5'-CGCG-3' and also binds to the non-methylated consensus sequence 5'-CTGCNA-3' also known as the consensus kaiso binding site (KBS). Recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. May contribute to the repression of target genes of the Wnt signaling pathway. May also activate transcription of a subset of target genes by the recruitment of CTNND2. Represses expression of MMP7 in conjunction with transcriptional corepressors CBFA2T3, CBFA2T2 and RUNX1T1 (PubMed:23251453). NA NA NA PE1 X +NX_Q86T26 Transmembrane protease serine 11B 416 46337 9.04 1 Endoplasmic reticulum;Cell membrane NA Serine protease. NA Belongs to the peptidase S1 family. NA PE1 4 +NX_Q86T29 Zinc finger protein 605 641 74376 9.32 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 12 +NX_Q86T65 Disheveled-associated activator of morphogenesis 2 1068 123499 6.36 0 Cytoplasmic vesicle;Nucleoplasm;Cytosol NA Key regulator of the Wnt signaling pathway, which is required for various processes during development, such as dorsal patterning, determination of left/right symmetry or myelination in the central nervous system. Acts downstream of Wnt ligands and upstream of beta-catenin (CTNNB1). Required for canonical Wnt signaling pathway during patterning in the dorsal spinal cord by promoting the aggregation of Disheveled (Dvl) complexes, thereby clustering and formation of Wnt receptor signalosomes and potentiating Wnt activity. During dorsal patterning of the spinal cord, inhibits oligodendrocytes differentiation via interaction with PIP5K1A. Also regulates non-canonical Wnt signaling pathway. Acts downstream of PITX2 in the developing gut and is required for left/right asymmetry within dorsal mesentery: affects mesenchymal condensation by lengthening cadherin-based junctions through WNT5A and non-canonical Wnt signaling, inducing polarized condensation in the left dorsal mesentery necessary to initiate gut rotation. Together with DAAM1, required for myocardial maturation and sarcomere assembly. NA Belongs to the formin homology family. Wnt signaling pathway PE1 6 +NX_Q86T75 Neuroblastoma breakpoint family member 11 865 99433 4.75 0 Cytoplasm NA NA NA Belongs to the NBPF family. NA PE2 1 +NX_Q86T82 Ubiquitin carboxyl-terminal hydrolase 37 979 110170 5.87 0 Nucleoplasm;Nucleolus;Nucleus NA Deubiquitinase that antagonizes the anaphase-promoting complex (APC/C) during G1/S transition by mediating deubiquitination of cyclin-A (CCNA1 and CCNA2), thereby promoting S phase entry. Specifically mediates deubiquitination of 'Lys-11'-linked polyubiquitin chains, a specific ubiquitin-linkage type mediated by the APC/C complex. Also mediates deubiquitination of 'Lys-48'-linked polyubiquitin chains in vitro. Phosphorylation at Ser-628 during G1/S phase maximizes the deubiquitinase activity, leading to prevent degradation of cyclin-A (CCNA1 and CCNA2) (PubMed:21596315). Plays an important role in the regulation of DNA replication by stabilizing the licensing factor CDT1 (PubMed:27296872). Polyubiquitinated via 'Lys-11'-linked ubiquitin by the APC(CDH1) complex during late mitosis, leading to its degradation. Able to mediate auto-deubiquitination.;Phosphorylated at Ser-628 by CDK2 during G1/S phase but not during mitosis; phosphorylation at Ser-628 is required for deubiquitinase activity. Also polyubiquitinated during early G1 phase, without leading to degradation. Belongs to the peptidase C19 family. Ub-specific processing proteases PE1 2 +NX_Q86T90 Protein hinderin 577 65373 8.36 0 Cytoplasmic vesicle;Nucleus speckle;Lipid droplet NA Competes with SMC1 for binding to SMC3. May affect the availability of SMC3 to engage in the formation of multimeric protein complexes. NA NA NA PE1 18 +NX_Q86T96 E3 ubiquitin-protein ligase RNF180 592 68254 8.89 1 Cytosol;Endoplasmic reticulum membrane;Nucleus envelope NA E3 ubiquitin-protein ligase which promotes polyubiquitination and degradation by the proteasome pathway of ZIC2. NA NA Protein modification; protein ubiquitination. PE1 5 +NX_Q86TA1 MOB kinase activator 3B 216 25464 8.72 0 NA NA Modulates LATS1 expression in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. NA Belongs to the MOB1/phocein family. NA PE1 9 +NX_Q86TA4 Putative uncharacterized protein FLJ44553 180 19528 7.57 0 NA NA NA NA NA NA PE5 2 +NX_Q86TB3 Alpha-protein kinase 2 2170 237013 5.14 0 Basolateral cell membrane;Cytosol NA Protein kinase that recognizes phosphorylation sites in which the surrounding peptides have an alpha-helical conformation (PubMed:10021370). Regulates cardiac development and cardiomyocyte differentiation by negatively regulating Wnt/beta-catenin signaling (PubMed:29888752). NA Belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily. NA PE1 18 +NX_Q86TB9 Protein PAT1 homolog 1 770 86850 6.22 0 Nucleus speckle;P-body;PML body;Cytosol;Nucleus NA RNA-binding protein involved in deadenylation-dependent decapping of mRNAs, leading to the degradation of mRNAs. Acts as a scaffold protein that connects deadenylation and decapping machinery. Required for cytoplasmic mRNA processing body (P-body) assembly. In case of infection, required for translation and replication of hepatitis C virus (HCV). NA Belongs to the PAT1 family. RNA degradation;mRNA decay by 5' to 3' exoribonuclease PE1 11 +NX_Q86TC9 Myopalladin 1320 145257 6.33 0 Cytoplasm;Sarcomere;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Z line;Nucleus;Cytoskeleton Nemaline myopathy 11;Cardiomyopathy, familial restrictive 4;Cardiomyopathy, dilated 1KK;Cardiomyopathy, familial hypertrophic 22 Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines. NA Belongs to the myotilin/palladin family. NA PE1 10 +NX_Q86TD4 Sarcalumenin 932 100788 4.34 0 Sarcoplasmic reticulum lumen NA May be involved in the regulation of calcium transport. NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. NA PE1 16 +NX_Q86TE4 Leucine zipper protein 2 346 38958 8.9 0 Nucleoplasm;Cytosol;Secreted;Cell membrane NA NA NA NA NA PE1 11 +NX_Q86TG1 Transmembrane protein 150A 271 28835 5.45 6 Cell membrane NA Regulates localization of phosphatidylinositol 4-kinase (PI4K) to the plasma membrane, possibly by reducing the association of TTC7 (TTC7A or TTC7B) with the PI4K complex (PubMed:25608530). Acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (PubMed:25608530). May also play a role in fasting-induced catabolism (By similarity). NA Belongs to the DRAM/TMEM150 family. NA PE1 2 +NX_Q86TG7 Retrotransposon-derived protein PEG10 708 80173 5.94 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Prevents apoptosis in hepatocellular carcinoma (HCC) cells through interaction with SIAH1, a mediator of apoptosis. May also have a role in cell growth promotion and hepatoma formation. Inhibits the TGF-beta signaling by interacting with the TGF-beta receptor ALK1. When overexpressed, induces the formation of cellular extension, such as filipodia in association with ALK1. Involved at the immediate early stage of adipocyte differentiation (By similarity). May bind to the 5'-GCCTGTCTTT-3' DNA sequence of the MB1 domain in the myelin basic protein (MBP) promoter (By similarity). Undergoes proteolytic cleavage. NA NA PE1 7 +NX_Q86TH1 ADAMTS-like protein 2 951 104621 6.02 0 Cytoplasmic vesicle;Secreted Geleophysic dysplasia 1 NA Glycosylated (By similarity). Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity). NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 9 +NX_Q86TI0 TBC1 domain family member 1 1168 133084 6.52 0 Nucleolus;Nucleus NA May act as a GTPase-activating protein for Rab family protein(s). May play a role in the cell cycle and differentiation of various tissues. Involved in the trafficking and translocation of GLUT4-containing vesicles and insulin-stimulated glucose uptake into cells (By similarity). Insulin-stimulated phosphorylation by AKT family kinases stimulates SLC2A4/GLUT4 translocation. NA Translocation of SLC2A4 (GLUT4) to the plasma membrane PE1 4 +NX_Q86TI2 Dipeptidyl peptidase 9 863 98263 6.01 0 Cytosol;Nucleus NA Dipeptidyl peptidase that cleaves off N-terminal dipeptides from proteins having a Pro or Ala residue at position 2. NA Belongs to the peptidase S9B family. DPPIV subfamily. NA PE1 19 +NX_Q86TI4 WD repeat-containing protein 86 376 40731 8.54 0 NA NA NA NA NA NA PE2 7 +NX_Q86TJ2 Transcriptional adapter 2-beta 420 48470 7.93 0 Nucleus speckle;Nucleus NA Coactivates PAX5-dependent transcription together with either SMARCA4 or GCN5L2. NA NA HATs acetylate histones;Ub-specific processing proteases PE1 4 +NX_Q86TJ5 Zinc finger protein 554 538 60582 7.56 0 Nucleoplasm;Nucleus;Nucleolus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q86TL0 Cysteine protease ATG4D 474 52922 8.93 0 Nucleoplasm;Cytoplasm;Mitochondrion matrix;Mitochondrion NA Cysteine protease ATG4D, mitochondrial: Plays a role as an autophagy regulator that links mitochondrial dysfunction with apoptosis. The mitochondrial import of ATG4D during cellular stress and differentiation may play important roles in the regulation of mitochondrial physiology, ROS, mitophagy and cell viability.;Cysteine protease ATG4D: Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy. Cleaves the C-terminal amino acid of ATG8 family proteins MAP1LC3 and GABARAPL2, to reveal a C-terminal glycine. Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy. Has also an activity of delipidating enzyme for the PE-conjugated forms. Cleaved by CASP3 during apoptosis which leads to increased activity. The cleavage by CASP3 reveals a cryptic mitochondrial targeting sequence immediately downstream of their canonical caspase cleavage sites which leads to mitochondrial import of the protein. Belongs to the peptidase C54 family. Regulation of autophagy;Macroautophagy PE1 19 +NX_Q86TL2 Store-operated calcium entry regulator STIMATE 294 33187 8.28 5 Cytosol;Endoplasmic reticulum membrane NA Acts as a regulator of store-operated Ca(2+) entry (SOCE) at junctional sites that connect the endoplasmic reticulum (ER) and plasma membrane (PM), called ER-plasma membrane (ER-PM) junction or cortical ER (PubMed:26322679, PubMed:26644574). SOCE is a Ca(2+) influx following depletion of intracellular Ca(2+) stores (PubMed:26322679). Acts by interacting with STIM1, promoting STIM1 conformational switch (PubMed:26322679). Involved in STIM1 relocalization to ER-PM junctions (PubMed:26644574). Contributes to the maintenance and reorganization of store-dependent ER-PM junctions (PubMed:26644574). NA Belongs to the STIMATE family. NA PE1 3 +NX_Q86TM3 Probable ATP-dependent RNA helicase DDX53 631 71154 9.16 0 Nucleoplasm;Nucleolus;Cytosol;Nucleus NA NA NA Belongs to the DEAD box helicase family. NA PE1 X +NX_Q86TM6 E3 ubiquitin-protein ligase synoviolin 617 67685 6.47 5 Endoplasmic reticulum;Nucleoplasm;Endoplasmic reticulum membrane;Cell membrane NA Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin specifically from endoplasmic reticulum-associated UBC7 E2 ligase and transfers it to substrates, promoting their degradation (PubMed:12459480, PubMed:12646171, PubMed:12975321, PubMed:14593114, PubMed:16289116, PubMed:16847254, PubMed:17059562, PubMed:17141218, PubMed:17170702, PubMed:22607976, PubMed:26471130). Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:12459480, PubMed:12646171, PubMed:12975321, PubMed:14593114, PubMed:16289116, PubMed:16847254, PubMed:17059562, PubMed:17141218, PubMed:17170702, PubMed:22607976, PubMed:26471130). Also promotes the degradation of normal but naturally short-lived proteins such as SGK. Protects cells from ER stress-induced apoptosis. Protects neurons from apoptosis induced by polyglutamine-expanded huntingtin (HTT) or unfolded GPR37 by promoting their degradation (PubMed:17141218). Sequesters p53/TP53 in the cytoplasm and promotes its degradation, thereby negatively regulating its biological function in transcription, cell cycle regulation and apoptosis (PubMed:17170702). Mediates the ubiquitination and subsequent degradation of cytoplasmic NFE2L1 (By similarity). Not N-glycosylated.;Auto-ubiquitinated. Belongs to the HRD1 family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;XBP1(S) activates chaperone genes;ER Quality Control Compartment (ERQC) PE1 11 +NX_Q86TN4 tRNA 2'-phosphotransferase 1 253 27742 10.01 0 Mitochondrion NA Catalyzes the last step of tRNA splicing, the transfer of the splice junction 2'-phosphate from ligated tRNA to NAD to produce ADP-ribose 1''-2'' cyclic phosphate. NA Belongs to the KptA/TPT1 family. NA PE1 11 +NX_Q86TP1 Exopolyphosphatase PRUNE1 453 50200 5.28 0 Cytoplasm;Cytosol;Focal adhesion;Nucleus Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies Phosphodiesterase (PDE) that has higher activity toward cAMP than cGMP, as substrate. Plays a role in cell proliferation, migration and differentiation, and acts as a negative regulator of NME1. Plays a role in the regulation of neurogenesis (PubMed:28334956). Involved in the regulation of microtubule polymerization (PubMed:28334956). NA Belongs to the PPase class C family. Prune subfamily. Purine metabolism PE1 1 +NX_Q86TS7 Putative UPF0730 protein encoded by LINC00643 51 6040 4.72 0 NA NA NA NA Belongs to the UPF0730 family. NA PE5 14 +NX_Q86TS9 39S ribosomal protein L52, mitochondrial 123 13664 10.27 0 Nucleoplasm;Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mL52 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 14 +NX_Q86TU6 Putative uncharacterized protein encoded by LINC00523 105 12089 9.74 0 NA NA NA NA NA NA PE5 14 +NX_Q86TU7 Actin-histidine N-methyltransferase 594 67257 5.72 0 Cytoplasm;Mitochondrion;Nucleus NA Protein-histidine N-methyltransferase that specifically mediates methylation of actin at 'His-73' (PubMed:30526847, PubMed:30626964, PubMed:30785395). Histidine methylation of actin is required for smooth muscle contraction of the laboring uterus during delivery (PubMed:30626964). Does not have protein-lysine N-methyltransferase activity and probably only catalyzes histidine methylation of actin (PubMed:30626964, PubMed:30785395). Phosphorylated by GSK3B, which is required for recognition by the SCF(FBXW7) complex and subsequent degradation.;Ubiquitinated by the SCF(FBXW7) complex following phosphorylation by GSK3B, leading to its degradation by the proteasome. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SETD3 subfamily. PKMTs methylate histone lysines PE1 14 +NX_Q86TV6 Tetratricopeptide repeat protein 7B 843 94179 6.43 0 Cytosol;Cell membrane NA Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions (PubMed:26571211). NA NA NA PE1 14 +NX_Q86TW2 AarF domain-containing protein kinase 1 530 60577 8.84 0 Nucleoplasm;Secreted NA Appears to be essential for maintaining mitochondrial cristae formation and mitochondrial function by acting via YME1L1 in a kinase-independent manner to regulate essential mitochondrial structural proteins OPA1 and IMMT (PubMed:31125351). The action of this enzyme is not yet clear (Probable). It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr) (Probable). NA Belongs to the protein kinase superfamily. ADCK protein kinase family. NA PE1 14 +NX_Q86TX2 Acyl-coenzyme A thioesterase 1 421 46277 6.9 0 Cytosol NA Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating intracellular levels of acyl-CoAs, free fatty acids and CoASH. More active towards saturated and unsaturated long chain fatty acyl-CoAs (C12-C20). NA Belongs to the C/M/P thioester hydrolase family. Lipid metabolism; fatty acid metabolism.;Fatty acid elongation;Biosynthesis of unsaturated fatty acids;Mitochondrial Fatty Acid Beta-Oxidation PE1 14 +NX_Q86TY3 Armadillo-like helical domain-containing protein 4 774 84173 4.26 1 Membrane;Cell membrane NA NA NA NA NA PE1 14 +NX_Q86TZ1 Tetratricopeptide repeat protein 6 520 59379 5.95 0 Centrosome NA NA NA NA NA PE1 14 +NX_Q86U02 Putative uncharacterized protein encoded by LINC00596 117 13541 6.01 1 Membrane NA NA NA NA NA PE5 14 +NX_Q86U06 Probable RNA-binding protein 23 439 48731 9.86 0 Nucleoplasm;Nucleus;Cytoskeleton NA Probable RNA-binding protein. May be involved in pre-mRNA splicing process. NA Belongs to the splicing factor SR family. NA PE1 14 +NX_Q86U10 60 kDa lysophospholipase 573 60883 5.44 0 NA NA Exhibits lysophospholipase, transacylase, PAF acetylhydrolase and asparaginase activities (By similarity). Can catalyze three types of transacylation reactions: (1) acyl transfer from 1-acyl-sn-glycero-3-phosphocholine (1-acyl-GPC) to the sn-1(3) positions of glycerol and 2-acylglycerol (sn-1 to -1(3) transfer), (2) acyl transfer from 1-acyl-GPC to the sn-2 positions of 1-acyl-GPC, 1-acyl-sn-glycero-3-phosphoethanolamine (1-acyl-GPE), and other lysophospholipids (sn-1 to -2 transfer) and (3) acyl transfer from 2-acyl-GPC to the sn-1 position of 2-acyl-GPC and 2-acyl-GPE (sn-2 to -1 transfer) (By similarity). Mediates the synthesis of 1-arachidonoyl species of phospholipids by transferring the arachidonoyl residue from 2-arachidonoyl lysophospholipid to the sn-1 position of 2-acyl lysophospholipid (By similarity). NA In the N-terminal section; belongs to the asparaginase 1 family. Aspartate and asparagine metabolism PE1 14 +NX_Q86U17 Serpin A11 422 46989 7.25 0 Secreted NA NA NA Belongs to the serpin family. NA PE1 14 +NX_Q86U28 Iron-sulfur cluster assembly 2 homolog, mitochondrial 154 16476 5.16 0 Mitochondrion Multiple mitochondrial dysfunctions syndrome 4 Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. May be involved in the binding of an intermediate of Fe/S cluster assembly. NA Belongs to the HesB/IscA family. Mitochondrial iron-sulfur cluster biogenesis PE1 14 +NX_Q86U37 Uncharacterized protein encoded by LINC01551 167 18828 9.74 0 NA NA NA NA NA NA PE2 14 +NX_Q86U38 Nucleolar protein 9 636 69438 6.86 0 Nucleoplasm;Cytosol;Nucleolus NA NA NA Belongs to the NOP9 family. NA PE1 14 +NX_Q86U42 Polyadenylate-binding protein 2 306 32749 5.04 0 Cytoplasm;Nucleus speckle;Nucleus Oculopharyngeal muscular dystrophy Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product (By similarity). Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and controls also the poly(A) tail length (By similarity). Increases the affinity of poly(A) polymerase for RNA (By similarity). Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense-mediated decay (NMD) of mRNA. Cooperates with SKIP to synergistically activate E-box-mediated transcription through MYOD1 and may regulate the expression of muscle-specific genes (PubMed:11371506). Binds to poly(A) and to poly(G) with high affinity (By similarity). May protect the poly(A) tail from degradation (By similarity). Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters (PubMed:27871484). Arginine dimethylation is asymmetric and involves PRMT1 and PRMT3. It does not influence the RNA binding properties (By similarity). NA mRNA surveillance pathway;Influenza A;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Processing of Intronless Pre-mRNAs;Inhibition of Host mRNA Processing and RNA Silencing;RNA Polymerase II Transcription Termination PE1 14 +NX_Q86U44 N6-adenosine-methyltransferase catalytic subunit 580 64474 5.98 0 Cytoplasm;Nucleus speckle;Nucleus NA The METTL3-METTL14 heterodimer forms a N6-methyltransferase complex that methylates adenosine residues at the N(6) position of some RNAs and regulates various processes such as the circadian clock, differentiation of embryonic and hematopoietic stem cells, cortical neurogenesis, response to DNA damage, differentiation of T-cells and primary miRNA processing (PubMed:22575960, PubMed:24284625, PubMed:25719671, PubMed:25799998, PubMed:26321680, PubMed:26593424, PubMed:27627798, PubMed:27373337, PubMed:27281194, PubMed:28297716, PubMed:30428350, PubMed:29506078, PubMed:29348140, PubMed:9409616). In the heterodimer formed with METTL14, METTL3 constitutes the catalytic core (PubMed:27627798, PubMed:27373337, PubMed:27281194). N6-methyladenosine (m6A), which takes place at the 5'-[AG]GAC-3' consensus sites of some mRNAs, plays a role in mRNA stability, processing, translation efficiency and editing (PubMed:22575960, PubMed:24284625, PubMed:25719671, PubMed:25799998, PubMed:26321680, PubMed:26593424, PubMed:28297716, PubMed:9409616). M6A acts as a key regulator of mRNA stability: methylation is completed upon the release of mRNA into the nucleoplasm and promotes mRNA destabilization and degradation (PubMed:28637692). In embryonic stem cells (ESCs), m6A methylation of mRNAs encoding key naive pluripotency-promoting transcripts results in transcript destabilization, promoting differentiation of ESCs (By similarity). M6A regulates the length of the circadian clock: acts as an early pace-setter in the circadian loop by putting mRNA production on a fast-track for facilitating nuclear processing, thereby providing an early point of control in setting the dynamics of the feedback loop (By similarity). M6A also regulates circadian regulation of hepatic lipid metabolism (PubMed:30428350). M6A regulates spermatogonial differentiation and meiosis and is essential for male fertility and spermatogenesis (By similarity). Involved in the response to DNA damage: in response to ultraviolet irradiation, METTL3 rapidly catalyzes the formation of m6A on poly(A) transcripts at DNA damage sites, leading to the recruitment of POLK to DNA damage sites (PubMed:28297716). M6A is also required for T-cell homeostasis and differentiation: m6A methylation of transcripts of SOCS family members (SOCS1, SOCS3 and CISH) in naive T-cells promotes mRNA destabilization and degradation, promoting T-cell differentiation (By similarity). Inhibits the type I interferon response by mediating m6A methylation of IFNB (PubMed:30559377). M6A also takes place in other RNA molecules, such as primary miRNA (pri-miRNAs) (PubMed:25799998). Mediates m6A methylation of Xist RNA, thereby participating in random X inactivation: m6A methylation of Xist leads to target YTHDC1 reader on Xist and promote transcription repression activity of Xist (PubMed:27602518). M6A also regulates cortical neurogenesis: m6A methylation of transcripts related to transcription factors, neural stem cells, the cell cycle and neuronal differentiation during brain development promotes their destabilization and decay, promoting differentiation of radial glial cells (By similarity). METTL3 mediates methylation of pri-miRNAs, marking them for recognition and processing by DGCR8 (PubMed:25799998). Acts as a positive regulator of mRNA translation independently of the methyltransferase activity: promotes translation by interacting with the translation initiation machinery in the cytoplasm (PubMed:27117702). Its overexpression in a number of cancer cells suggests that it may participate to cancer cell proliferation by promoting mRNA translation (PubMed:27117702). Sumoylation inhibits the N6-adenosine-methyltransferase activity. Sumoylation does not affect subcellular location or interaction with METTL14. Desumoylated by SENP1. Belongs to the MT-A70-like family. Processing of Capped Intron-Containing Pre-mRNA PE1 14 +NX_Q86U70 LIM domain-binding protein 1 411 46533 6.52 0 Nucleoplasm;Nucleus NA Binds to the LIM domain of a wide variety of LIM domain-containing transcription factors. May regulate the transcriptional activity of LIM-containing proteins by determining specific partner interactions. Plays a role in the development of interneurons and motor neurons in cooperation with LHX3 and ISL1. Acts synergistically with LHX1/LIM1 in axis formation and activation of gene expression. Acts with LMO2 in the regulation of red blood cell development, maintaining erythroid precursors in an immature state (By similarity). Ubiquitinated by RLIM/RNF12, leading to its degradation by the proteasome. Belongs to the LDB family. RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of expression of SLITs and ROBOs PE1 10 +NX_Q86U86 Protein polybromo-1 1689 192948 6.46 0 Nucleoplasm;Nucleus Renal cell carcinoma Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). Acts as a negative regulator of cell proliferation. NA NA RMTs methylate histone arginines;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 3 +NX_Q86U90 YrdC domain-containing protein, mitochondrial 279 29328 8.9 0 Membrane;Mitochondrion NA May regulate the activity of some transporters. NA Belongs to the SUA5 family. NA PE1 1 +NX_Q86UA1 Pre-mRNA-processing factor 39 669 78430 5.26 0 Nucleoplasm;Nucleus NA Involved in pre-mRNA splicing. NA Belongs to the PRP39 family. NA PE1 14 +NX_Q86UA6 RPA-interacting protein 219 24770 4.86 0 Cytoplasm;Nucleolus;Nucleoplasm;PML body;Nucleus NA Is sumoylated and mediates the localization of RPA complex into the PML body of the nucleus, thereby participating in RPA function in DNA metabolism.;Mediates the import of RPA complex into the nucleus, possibly via some interaction with importin beta. Sumoylated. Sumoylation is required for localization in the nuclear PML body and transport of RPA complex in PML body. Upon UV irradiation and during S phase, it is desumoylated, releasing RPA complex that is translocated to sites of DNA damage. Sumoylation takes place at different Lys residues. Variant 'Lys-103' adds a sumoylation site and increases total sumoylation levels. NA NA PE1 17 +NX_Q86UB2 Basic immunoglobulin-like variable motif-containing protein 503 56774 9.15 0 Cytoplasm;Nucleoplasm;Nucleus NA NA NA Belongs to the BIVM family. NA PE1 13 +NX_Q86UB9 Transmembrane protein 135 458 52291 9.53 6 Mitochondrion membrane;Peroxisome membrane;Cytoplasmic vesicle NA Involved in mitochondrial metabolism by regulating the balance between mitochondrial fusion and fission. May act as a regulator of mitochondrial fission that promotes DNM1L-dependent fission through activation of DNM1L. May be involved in peroxisome organization. NA Belongs to the TMEM135 family. NA PE1 11 +NX_Q86UC2 Radial spoke head protein 3 homolog 560 63687 5.53 0 Cell membrane;Cilium;Cilium axoneme;Cytoplasmic vesicle;Cytosol Ciliary dyskinesia, primary, 32 Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in cilia. NA Belongs to the flagellar radial spoke RSP3 family. NA PE1 6 +NX_Q86UD0 Suppressor APC domain-containing protein 2 394 42637 9.14 0 Cytoplasm;Cell cortex;Nucleolus;Nucleoplasm;Tight junction;Cytosol;Apical cell membrane;Nucleus NA Plays a role in planar mitotic spindle orientation in retinal progenitor cells (RPCs) and promotes the production of symmetric terminal divisions (By similarity). Negatively regulates the mitotic apical cortex localization of GPSM2 (PubMed:26766442). Involved also in positive regulation of cell proliferation and tumor cell growth (PubMed:23576022, PubMed:23704824). NA NA NA PE1 9 +NX_Q86UD1 Out at first protein homolog 273 30688 6.39 0 Nucleoplasm NA NA NA Belongs to the OAF family. NA PE1 11 +NX_Q86UD3 E3 ubiquitin-protein ligase MARCH3 253 28504 8.58 2 Early endosome membrane;Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA E3 ubiquitin-protein ligase which may be involved in endosomal trafficking. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. NA NA Protein modification; protein ubiquitination. PE1 5 +NX_Q86UD4 Zinc finger protein 329 541 61725 8.94 0 Nucleoplasm;Nucleus membrane;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q86UD5 Sodium/hydrogen exchanger 9B2 537 57564 6.28 12 Cell membrane;Endosome membrane;Basolateral cell membrane;Cell junction;Flagellum membrane;Nucleoplasm;Synaptic vesicle membrane;Mitochondrion membrane;Apical cell membrane NA Na(+)/H(+) antiporter that extrudes Na(+) or Li(+) in exchange for external protons across the membrane (PubMed:18000046, PubMed:28154142, PubMed:22948142, PubMed:18508966). Contributes to the regulation of intracellular pH, sodium homeostasis, and cell volume. Plays an important role for insulin secretion and clathrin-mediated endocytosis in beta-cells (By similarity). Involved in sperm motility and fertility (By similarity). It is controversial whether SLC9B2 plays a role in osteoclast differentiation or not (By similarity). NA Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. Stimuli-sensing channels PE1 4 +NX_Q86UD7 TBC1 domain family member 26 250 28839 9.74 0 NA NA May act as a GTPase-activating protein for Rab family protein(s). NA NA NA PE2 17 +NX_Q86UE3 Zinc finger protein 546 836 98405 8.94 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q86UE4 Protein LYRIC 582 63837 9.33 1 Endoplasmic reticulum membrane;Nucleolus;Nucleus membrane;Endoplasmic reticulum;Tight junction;Perinuclear region NA Downregulates SLC1A2/EAAT2 promoter activity when expressed ectopically. Activates the nuclear factor kappa-B (NF-kappa-B) transcription factor. Promotes anchorage-independent growth of immortalized melanocytes and astrocytes which is a key component in tumor cell expansion. Promotes lung metastasis and also has an effect on bone and brain metastasis, possibly by enhancing the seeding of tumor cells to the target organ endothelium. Induces chemoresistance. NA NA NA PE1 8 +NX_Q86UE6 Leucine-rich repeat transmembrane neuronal protein 1 522 58641 7.01 1 Postsynaptic cell membrane;Cell membrane NA Exhibits strong synaptogenic activity, restricted to excitatory presynaptic differentiation, acting at both pre- and postsynaptic level. NA Belongs to the LRRTM family. Neurexins and neuroligins PE1 2 +NX_Q86UE8 Serine/threonine-protein kinase tousled-like 2 772 87661 8.65 0 Perinuclear region;Nucleus;Cytoskeleton Mental retardation, autosomal dominant 57 Serine/threonine-protein kinase involved in the process of chromatin assembly and probably also DNA replication, transcription, repair, and chromosome segregation. Phosphorylates the chromatin assembly factors ASF1A AND ASF1B. Phosphorylation of ASF1A prevents its proteasome-mediated degradation, thereby enhancing chromatin assembly. Negative regulator of amino acid starvation-induced autophagy. Phosphorylated at Ser-750, probably by CHEK1.;Autophosphorylated (Phosphoserine,Phosphothreonine:PTM-0253,PTM-0254) Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. NA PE1 17 +NX_Q86UF1 Tetraspanin-33 283 31538 6.85 4 Cytoplasm;Adherens junction;Cytoskeleton;Cell membrane NA Plays an important role in normal erythropoiesis (By similarity). It has a role in the differentiation of erythroid progenitors (By similarity). Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10 (PubMed:26686862, PubMed:30463011). Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity (PubMed:26686862). Mediates docking of ADAM10 to zonula adherens by interacting with ADAM10 and, in a PDZD11-dependent manner, with the zonula adherens protein PLEKHA7 (PubMed:30463011). NA Belongs to the tetraspanin (TM4SF) family. Amyloid fiber formation PE1 7 +NX_Q86UF2 cTAGE family member 6 777 87900 5.09 1 Membrane NA NA NA Belongs to the cTAGE family. NA PE2 7 +NX_Q86UF4 Coiled-coil domain-containing protein 190 302 34103 9.62 0 Cytoplasmic vesicle NA NA NA NA NA PE2 1 +NX_Q86UG4 Solute carrier organic anion transporter family member 6A1 719 79232 8.93 12 Cell membrane NA NA NA Belongs to the organo anion transporter (TC 2.A.60) family. NA PE1 5 +NX_Q86UK0 ATP-binding cassette sub-family A member 12 2595 293237 7.89 14 Cell membrane;Nucleolus;Membrane;Cytoplasmic vesicle;Cytosol Ichthyosis, congenital, autosomal recessive 4B;Ichthyosis, congenital, autosomal recessive 4A Probable transporter involved in lipid homeostasis. NA Belongs to the ABC transporter superfamily. ABCA family. ABC transporters;ABC transporters in lipid homeostasis;Defective ABCA12 causes autosomal recessive congenital ichthyosis type 4B PE1 2 +NX_Q86UK5 Limbin 1308 147948 6.53 1 Mitochondrion;Cell membrane;Cilium;Cilium basal body;Cilium membrane;Nucleus Ellis-van Creveld syndrome;Acrofacial dysostosis, Weyers type Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis. NA NA Hedgehog 'on' state;Activation of SMO PE1 4 +NX_Q86UK7 E3 ubiquitin-protein ligase ZNF598 904 98637 8.75 0 Cytosol;Cell membrane NA E3 ubiquitin-protein ligase that plays a key role in the ribosome quality control (RQC), a pathway that takes place when a ribosome has stalled during translation (PubMed:28065601, PubMed:28132843). Required for ribosomes to terminally stall during translation of poly(A) sequences by mediating monoubiquitination of 40S ribosomal protein RPS10/eS10, RPS20/uS10 and RPS3/uS3 (PubMed:28065601, PubMed:28132843). Stalling precludes synthesis of a long poly-lysine tail and initiates the RQC pathway to degrade the potentially detrimental aberrant nascent polypeptide (PubMed:28065601, PubMed:28132843). Also acts as a component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:22751931). NA Belongs to the ZNF598 family. NA PE1 16 +NX_Q86UL3 Glycerol-3-phosphate acyltransferase 4 456 52071 9.28 2 Endoplasmic reticulum membrane NA Converts glycerol-3-phosphate to 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) by incorporating an acyl moiety at the sn-1 position of the glycerol backbone (PubMed:18238778). Active against both saturated and unsaturated long-chain fatty acyl-CoAs (PubMed:18238778). NA Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 1/3.;Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PA PE1 8 +NX_Q86UL8 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 1455 158754 5.95 0 Cytoplasm;Cell membrane;Late endosome;Synaptosome Nephrotic syndrome 15 Seems to act as scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins. May play a role in regulating activin-mediated signaling in neuronal cells. Enhances the ability of PTEN to suppress AKT1 activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth. MAGI2 is phosphorylated by MAPK8 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the MAGUK family. Tight junction;Nephrin family interactions PE1 7 +NX_Q86UN2 Reticulon-4 receptor-like 1 441 49065 9.25 0 Perikaryon;Membrane raft;Cell projection;Cell membrane NA Cell surface receptor. Plays a functionally redundant role in postnatal brain development and in regulating axon regeneration in the adult central nervous system. Contributes to normal axon migration across the brain midline and normal formation of the corpus callosum. Protects motoneurons against apoptosis; protection against apoptosis is probably mediated by MAG. Plays a role in inhibiting neurite outgrowth and axon regeneration via its binding to neuronal chondroitin sulfate proteoglycans. Binds heparin (By similarity). Like other family members, plays a role in restricting the number dendritic spines and the number of synapses that are formed during brain development (PubMed:22325200). Signaling mediates activation of Rho and downstream reorganization of the actin cytoskeleton (PubMed:22325200). NA Belongs to the Nogo receptor family. Post-translational modification: synthesis of GPI-anchored proteins PE1 17 +NX_Q86UN3 Reticulon-4 receptor-like 2 420 46106 7.58 0 Cell membrane;Perikaryon;Dendrite;Axon;Membrane raft NA Cell surface receptor that plays a functionally redundant role in the inhibition of neurite outgrowth mediated by MAG (By similarity). Plays a functionally redundant role in postnatal brain development. Contributes to normal axon migration across the brain midline and normal formation of the corpus callosum. Does not seem to play a significant role in regulating axon regeneration in the adult central nervous system. Protects motoneurons against apoptosis; protection against apoptosis is probably mediated by MAG (By similarity). Like other family members, plays a role in restricting the number dendritic spines and the number of synapses that are formed during brain development (PubMed:22325200). Signaling mediates activation of Rho and downstream reorganization of the actin cytoskeleton (PubMed:22325200). N-glycosylated.;Undergoes zinc metalloproteinase-mediated ectodomain shedding in neuroblastoma cells; is released both as a full-length ectodomain and an N-terminal fragment containing the leucine-rich repeat (LRR) region of the protein. Belongs to the Nogo receptor family. Post-translational modification: synthesis of GPI-anchored proteins PE1 11 +NX_Q86UN6 A-kinase anchor protein 14 197 22815 6.31 0 Cytoplasm NA Binds to type II regulatory subunits of protein kinase A and anchors/targets them. NA NA NA PE1 X +NX_Q86UP0 Cadherin-24 819 87752 4.65 1 Cell membrane;Cell junction;Centriolar satellite;Nucleoplasm;Cytosol NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Cadherin-24 mediate strong cell-cell adhesion. NA NA Adherens junctions interactions PE1 14 +NX_Q86UP2 Kinectin 1357 156275 5.52 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Receptor for kinesin thus involved in kinesin-driven vesicle motility. Accumulates in integrin-based adhesion complexes (IAC) upon integrin aggregation by fibronectin. NA Belongs to the kinectin family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);RHO GTPases activate KTN1;Post-translational protein phosphorylation PE1 14 +NX_Q86UP3 Zinc finger homeobox protein 4 3567 393730 5.94 0 Nucleoplasm;Nucleolus;Nucleus NA May play a role in neural and muscle differentiation (By similarity). May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 8 +NX_Q86UP6 CUB and zona pellucida-like domain-containing protein 1 607 68153 6.05 1 Cytoplasmic vesicle;Secretory vesicle membrane;Nucleolus NA CUZD1 antiserum inhibits cell attachment and proliferation of ovarian cancer cells so may be involved in these processes. May also play a role in the uterus during late pregnancy and/or in trypsin activation in pancreatic acinar cells. NA NA NA PE1 10 +NX_Q86UP8 General transcription factor II-I repeat domain-containing protein 2A 949 107168 5.49 0 Nucleus NA NA NA Belongs to the TFII-I family. NA PE1 7 +NX_Q86UP9 LHFPL tetraspan subfamily member 3 protein 236 25769 5.69 4 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the LHFP family. NA PE1 7 +NX_Q86UQ0 Zinc finger protein 589 364 41189 8.61 0 Nucleoplasm;Nucleus NA May play a role in hematopoietic stem/progenitor cell differentiation. May play a role as a DNA binding-dependent transcriptional repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 3 +NX_Q86UQ4 ATP-binding cassette sub-family A member 13 5058 576159 6.01 14 Membrane;Cytoplasmic vesicle;Cytosol;Centrosome NA NA NA Belongs to the ABC transporter superfamily. ABC transporters;Neutrophil degranulation PE1 7 +NX_Q86UQ5 Gilles de la Tourette syndrome chromosomal region candidate gene 1 protein 136 15623 7.12 1 Membrane NA NA NA NA NA PE5 18 +NX_Q86UQ8 Transcription factor NF-E4 179 19019 9.46 0 Nucleus NA Functions as part of the SSP (stage selector protein) complex, a complex that contributes to the preferential expression of the gamma-gene in fetal erythroid cells by facilitating the interaction of the gamma-globin genes with enhancer elements contained in the locus control region (LCR). The complex binds to the stage selector element (SSE) in the proximal gamma-globin promoter. In contrast, isoform 2 acts as a repressor of gamma-globin gene expression by preventing NFE2 and RNA polymerase II recruitment to the promoter. Ubiquitinated; leading to its degradation by the proteasome. Acetylation at Lys-43 prevents ubiquitination.;Acetylation at Lys-43 prolongs the protein half-life by preventing ubiquitin-mediated degradation and reduces the interaction between NF-E4 and HDAC1, potentially maximizing the activating ability of the factor at the gamma-promoter. NA NA PE1 7 +NX_Q86UR1 NADPH oxidase activator 1 476 50933 6.06 0 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA Functions as an activator of NOX1, a superoxide-producing NADPH oxidase. Functions in the production of reactive oxygen species (ROS) which participate in a variety of biological processes including host defense, hormone biosynthesis, oxygen sensing and signal transduction. May also activate CYBB/gp91phox and NOX3. Interaction with YWHAZ depends on phosphorylation by PKA. Belongs to the NCF2/NOXA1 family. RHO GTPases Activate NADPH Oxidases PE1 9 +NX_Q86UR5 Regulating synaptic membrane exocytosis protein 1 1692 189073 9.68 0 Presynaptic cell membrane;Synapse;Cell membrane Cone-rod dystrophy 7 Rab effector involved in exocytosis (By similarity). May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short-term synaptic plasticity (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003). Phosphorylated by BRSK1. NA Synaptic vesicle cycle;Acetylcholine Neurotransmitter Release Cycle;GABA synthesis, release, reuptake and degradation;Glutamate Neurotransmitter Release Cycle;Norepinephrine Neurotransmitter Release Cycle;Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle PE1 6 +NX_Q86US8 Telomerase-binding protein EST1A 1419 160462 6.66 0 Cytosol;Telomere;Nucleolus NA Plays a role in nonsense-mediated mRNA decay (PubMed:18974281, PubMed:19060897, PubMed:20930030, PubMed:17053788). Is thought to provide a link to the mRNA degradation machinery as it has endonuclease activity required to initiate NMD, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation (PubMed:18974281, PubMed:19060897, PubMed:20930030, PubMed:17053788). Degrades single-stranded RNA (ssRNA), but not ssDNA or dsRNA (PubMed:18974281, PubMed:19060897, PubMed:20930030, PubMed:17053788).;Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini (PubMed:19179534). May have a general role in telomere regulation (PubMed:12676087, PubMed:12699629). Promotes in vitro the ability of TERT to elongate telomeres (PubMed:12676087, PubMed:12699629). Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the fusion points) and did not perturb TRF2 telomeric localization (PubMed:12676087, PubMed:12699629). Binds to the single-stranded 5'-(GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER) (PubMed:12676087, PubMed:12699629). NA NA mRNA surveillance pathway;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) PE1 17 +NX_Q86UT5 Na(+)/H(+) exchange regulatory cofactor NHE-RF4 571 61032 6.24 0 Cytoplasm;Cell membrane NA Acts as a regulatory protein that associates with GUCY2C and negatively modulates its heat-stable enterotoxin-mediated activation (PubMed:11950846). Stimulates SLC9A3 activity in the presence of elevated calcium ions (PubMed:19088451). NA NA Intestinal infectious diseases PE1 11 +NX_Q86UT6 NLR family member X1 975 107616 7 0 Mitochondrion outer membrane;Cell junction;Mitochondrion;Cell membrane NA Participates in antiviral signaling. Acts as a negative regulator of MAVS-mediated antiviral responses, through the inhibition of the virus-induced RLH (RIG-like helicase)-MAVS interaction (PubMed:18200010). Instead, promotes autophagy by interacting with TUFM and subsequently recruiting the autophagy-related proteins ATG5 and ATG12 (PubMed:22749352). Regulates also MAVS-dependent NLRP3 inflammasome activation to attenuate apoptosis (PubMed:27393910). Has no inhibitory function on NF-kappa-B signaling pathway, but enhances NF-kappa-B and JUN N-terminal kinase dependent signaling through the production of reactive oxygen species (PubMed:18219313). NA Belongs to the NLRP family. RIG-I-like receptor signaling pathway;Influenza A;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Negative regulators of DDX58/IFIH1 signaling PE1 11 +NX_Q86UT8 Coiled-coil domain-containing protein 84 332 37974 8.48 0 Cytoplasm;Nucleoplasm NA NA NA NA NA PE1 11 +NX_Q86UU0 B-cell CLL/lymphoma 9-like protein 1499 157129 8.79 0 Nucleoplasm;Nucleus NA Transcriptional regulator that acts as an activator. Promotes beta-catenin transcriptional activity. Plays a role in tumorigenesis. Enhances the neoplastic transforming activity of CTNNB1 (By similarity). NA Belongs to the BCL9 family. Formation of the beta-catenin:TCF transactivating complex;Deactivation of the beta-catenin transactivating complex PE1 11 +NX_Q86UU1 Pleckstrin homology-like domain family B member 1 1377 151162 8.85 0 Nucleoplasm;Spindle NA NA NA NA NA PE1 11 +NX_Q86UU5 Gametogenetin 652 66699 10.3 0 NA NA May be involved in spermatogenesis. NA NA NA PE1 19 +NX_Q86UU9 Tachykinin-4 113 12305 5.24 0 Secreted NA Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles. Endokinin-A induces thermal hyperalgesia and pain-related behavior such as scratching following intrathecal administration in rats. These effects are suppressed by treatment with endokinin-C. Endokinin-A/B reduces arterial blood pressure and increases sperm motility. NA Belongs to the tachykinin family. NA PE1 17 +NX_Q86UV5 Ubiquitin carboxyl-terminal hydrolase 48 1035 119032 5.75 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cytosol;Nucleus NA Recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. May be involved in the regulation of NF-kappa-B activation by TNF receptor superfamily via its interactions with RELA and TRAF2. May also play a regulatory role at postsynaptic sites. NA Belongs to the peptidase C19 family. Ub-specific processing proteases PE1 1 +NX_Q86UV6 Tripartite motif-containing protein 74 250 28547 5.84 0 NA NA NA NA Belongs to the TRIM/RBCC family. NA PE1 7 +NX_Q86UV7 Tripartite motif-containing protein 73 250 28517 5.95 0 NA NA NA NA Belongs to the TRIM/RBCC family. NA PE2 7 +NX_Q86UW1 Organic solute transporter subunit alpha 340 37735 8.89 7 Endoplasmic reticulum membrane;Cell membrane NA Essential component of the Ost-alpha/Ost-beta complex, a heterodimer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood. Efficiently transports the major species of bile acids. NA Belongs to the OST-alpha family. Bile secretion PE1 3 +NX_Q86UW2 Organic solute transporter subunit beta 128 14346 4.58 1 Cytoplasmic vesicle;Mitochondrion;Cell membrane NA Essential component of the Ost-alpha/Ost-beta complex, a heterodimer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood. Efficiently transports the major species of bile acids. Modulates SLC51A glycosylation, membrane trafficking and stability activities. NA Belongs to the OST-beta family. Bile secretion PE1 15 +NX_Q86UW6 NEDD4-binding protein 2 1770 198801 5.11 0 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA Has 5'-polynucleotide kinase and nicking endonuclease activity. May play a role in DNA repair or recombination. Ubiquitinated; this targets the protein for degradation by the proteasome. NA NA PE1 4 +NX_Q86UW7 Calcium-dependent secretion activator 2 1296 147735 5.83 0 Cytoplasmic vesicle membrane;Nucleoplasm;Synapse;Cytoplasmic vesicle NA Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates neurotrophin release from granule cells leading to regulate cell differentiation and survival during cerebellar development. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles (By similarity). NA NA NA PE1 7 +NX_Q86UW8 Hyaluronan and proteoglycan link protein 4 402 42801 9.12 0 Extracellular matrix NA Binds to hyaluronic acid and may be involved in formation of the extracellular matrix. NA Belongs to the HAPLN family. NA PE1 19 +NX_Q86UW9 Probable E3 ubiquitin-protein ligase DTX2 622 67246 8.79 0 Nucleoplasm;Nucleus;Cytoplasm;Nucleus membrane NA Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Probably acts both as a positive and negative regulator of Notch, depending on the developmental and cell context. Mediates the antineural activity of Notch, possibly by inhibiting the transcriptional activation mediated by MATCH1. Functions as a ubiquitin ligase protein in vitro, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity. NA Belongs to the Deltex family. Protein modification; protein ubiquitination.;Notch signaling pathway;Activated NOTCH1 Transmits Signal to the Nucleus PE1 7 +NX_Q86UX2 Inter-alpha-trypsin inhibitor heavy chain H5 942 104576 8.47 0 Golgi apparatus;Secreted;Cytoplasmic vesicle NA May act as a tumor suppressor. NA Belongs to the ITIH family. NA PE1 10 +NX_Q86UX6 Serine/threonine-protein kinase 32C 486 54994 6.16 0 NA NA NA NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. NA PE1 10 +NX_Q86UX7 Fermitin family homolog 3 667 75953 6.53 0 Cytoplasmic vesicle;Podosome Leukocyte adhesion deficiency 3 Plays a central role in cell adhesion in hematopoietic cells (PubMed:19234463, PubMed:26359933). Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells (PubMed:19234460). Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity).;May act as a repressor of NF-kappa-B and apoptosis. NA Belongs to the kindlin family. Platelet degranulation PE1 11 +NX_Q86UY5 Protein FAM83A 434 47458 9.04 0 Nucleoplasm;Cytoplasm NA Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. Activates both RAS/MAPK and PI3K/AKT/TOR signaling cascades downstream of EGFR. Required for the RAS/MAPK signaling cascade activation upon EGFR stimulation, it also activates both signaling cascades independently of EGFR activation. Phosphorylated upon EGFR activation. Belongs to the FAM83 family. NA PE1 8 +NX_Q86UY6 N-alpha-acetyltransferase 40 237 27194 7.06 0 Cytoplasm;Nucleus NA N-alpha-acetyltransferase that specifically mediates the acetylation of the N-terminal residues of histones H4 and H2A (PubMed:21935442, PubMed:25619998). In contrast to other N-alpha-acetyltransferase, has a very specific selectivity for histones H4 and H2A N-terminus and specifically recognizes the 'Ser-Gly-Arg-Gly sequence' (PubMed:21935442, PubMed:25619998). Acts as a negative regulator of apoptosis (PubMed:26666750). May play a role in hepatic lipid metabolism (By similarity). NA Belongs to the acetyltransferase family. NAA40 subfamily. NA PE1 11 +NX_Q86UY8 5'-nucleotidase domain-containing protein 3 548 63420 8.46 0 Cytosol;Mitochondrion NA NA NA Belongs to the 5'(3')-deoxyribonucleotidase family. NA PE1 12 +NX_Q86UZ6 Zinc finger and BTB domain-containing protein 46 589 64083 5.55 0 Nucleoplasm;Nucleus NA Function as a transcriptional repressor for PRDM1. Sumoylated. Desumoylation by DESI1 reverses transcriptional repression activity (By similarity). NA NA PE1 20 +NX_Q86V15 Zinc finger protein castor homolog 1 1759 190069 6.59 0 Nucleoplasm;Cytosol;Nucleus NA Transcriptional activator (PubMed:23639441, PubMed:27693370). Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7 (PubMed:23639441). NA NA NA PE1 1 +NX_Q86V20 Shieldin complex subunit 2 835 93705 6.41 0 Nucleoplasm;Cytoskeleton;Nucleus;Chromosome NA Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs) (PubMed:29656893, PubMed:29789392). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection (PubMed:29656893, PubMed:29789392). Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres (PubMed:29656893). NA Belongs to the SHLD2 family. NA PE1 10 +NX_Q86V21 Acetoacetyl-CoA synthetase 672 75144 5.86 0 Cytoplasmic vesicle;Cytosol NA Activates acetoacetate to acetoacetyl-CoA. May be involved in utilizing ketone body for the fatty acid-synthesis during adipose tissue development (By similarity). NA Belongs to the ATP-dependent AMP-binding enzyme family. Butanoate metabolism;Synthesis of Ketone Bodies PE1 12 +NX_Q86V24 Adiponectin receptor protein 2 386 43884 6.11 7 Cell membrane NA Receptor for ADIPOQ, an essential hormone secreted by adipocytes that regulates glucose and lipid metabolism (PubMed:12802337, PubMed:25855295). Required for normal body fat and glucose homeostasis. ADIPOQ-binding activates a signaling cascade that leads to increased PPARA activity, and ultimately to increased fatty acid oxidation and glucose uptake. Has intermediate affinity for globular and full-length adiponectin. Required for normal revascularization after chronic ischemia caused by severing of blood vessels (By similarity). NA Belongs to the ADIPOR family. Adipocytokine signaling pathway;AMPK inhibits chREBP transcriptional activation activity PE1 12 +NX_Q86V25 Tubulinyl-Tyr carboxypeptidase 2 355 40450 10.02 0 Cytoplasm;Cytosol;Secreted NA Tyrosine carboxypeptidase that removes the C-terminal tyrosine residue of alpha-tubulin, thereby regulating microtubule dynamics and function (PubMed:29146869). Acts as an activator of angiogenesis: expressed in infiltrating mononuclear cells in the sprouting front to promote angiogenesis (PubMed:19204325). NA Belongs to the transglutaminase-like superfamily. Vasohibin family. NA PE1 1 +NX_Q86V35 Calcium-binding protein 7 215 24453 4.56 1 trans-Golgi network membrane;Perinuclear region;Cell membrane NA Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity. NA NA NA PE1 22 +NX_Q86V40 Metalloprotease TIKI1 505 57676 9.03 1 Cell membrane NA Metalloprotease that acts as a negative regulator of the Wnt signaling pathway by mediating the cleavage of the 8 N-terminal residues of a subset of Wnt proteins. Following cleavage, Wnt proteins become oxidized and form large disulfide-bond oligomers, leading to their inactivation. Able to cleave WNT3A, WNT5, but not WNT11. Required for head formation. NA Belongs to the TIKI family. NA PE1 2 +NX_Q86V42 Protein FAM124A 546 60104 6.12 0 Nucleoplasm;Cytosol NA NA NA Belongs to the FAM124 family. NA PE1 13 +NX_Q86V48 Leucine zipper protein 1 1076 120275 8.67 0 Cytoplasmic vesicle;Cytosol;Nucleus;Cytoskeleton NA NA NA NA NA PE1 1 +NX_Q86V59 Paraneoplastic antigen-like protein 8A 439 48161 9.09 0 Nucleoplasm;Cytosol;Nucleus NA NA NA Belongs to the PNMA family. NA PE1 19 +NX_Q86V71 Zinc finger protein 429 674 78152 9.5 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA NA Generic Transcription Pathway PE2 19 +NX_Q86V81 THO complex subunit 4 257 26888 11.15 0 Cytoplasm;Nucleus speckle;Nucleus NA Acts as chaperone and promotes the dimerization of transcription factors containing basic leucine zipper (bZIP) domains and thereby promotes transcriptional activation.;Export adapter involved in nuclear export of spliced and unspliced mRNA. Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NFX1 pathway) (PubMed:15833825, PubMed:15998806, PubMed:17190602, PubMed:11707413, PubMed:11675789, PubMed:11979277, PubMed:18364396, PubMed:22144908, PubMed:22893130, PubMed:23222130, PubMed:25662211). Component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA (PubMed:15833825, PubMed:15998806, PubMed:17190602). TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm (PubMed:15833825, PubMed:15998806, PubMed:17190602). TREX recruitment occurs via an interaction between ALYREF/THOC4 and the cap-binding protein NCBP1 (PubMed:15833825, PubMed:15998806, PubMed:17190602). The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production; ALYREF/THOC4 mediates the recruitment of the TREX complex to the intronless viral mRNA (PubMed:18974867). Required for TREX complex assembly and for linking DDX39B to the cap-binding complex (CBC) (PubMed:15998806, PubMed:17984224). In conjunction with THOC5 functions in NXF1-NXT1 mediated nuclear export of HSP70 mRNA; both proteins enhance the RNA binding activity of NXF1 and are required for NXF1 localization to the nuclear rim (PubMed:19165146). Involved in the nuclear export of intronless mRNA; proposed to be recruited to intronless mRNA by ATP-bound DDX39B. Involved in transcription elongation and genome stability (PubMed:12438613, PubMed:17984224). Involved in mRNA export of C5-methylcytosine (m5C)-containing mRNAs: specifically recognizes and binds m5C mRNAs and mediates their nucleo-cytoplasmic shuttling (PubMed:28418038). Arg-204 is dimethylated, probably to asymmetric dimethylarginine. Arginine methylation reduces RNA binding.;Citrullinated by PADI4. Belongs to the ALYREF family. RNA transport;mRNA surveillance pathway;Spliceosome;Herpes simplex infection;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 17 +NX_Q86V85 Integral membrane protein GPR180 440 49395 7.01 7 Membrane;Cytoplasmic vesicle NA NA NA NA NA PE1 13 +NX_Q86V86 Serine/threonine-protein kinase pim-3 326 35891 5.75 0 Cytoplasm;Cytosol NA Proto-oncogene with serine/threonine kinase activity that can prevent apoptosis, promote cell survival and protein translation. May contribute to tumorigenesis through: the delivery of survival signaling through phosphorylation of BAD which induces release of the anti-apoptotic protein Bcl-X(L), the regulation of cell cycle progression, protein synthesis and by regulation of MYC transcriptional activity. Additionally to this role on tumorigenesis, can also negatively regulate insulin secretion by inhibiting the activation of MAPK1/3 (ERK1/2), through SOCS6. Involved also in the control of energy metabolism and regulation of AMPK activity in modulating MYC and PPARGC1A protein levels and cell growth. Ubiquitinated, leading to proteasomal degradation.;Phosphorylated. Interaction with PPP2CA promotes dephosphorylation.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. PIM subfamily. NA PE1 22 +NX_Q86V87 Protein FAM160B2 743 82340 5.27 0 Nucleoplasm;Cytosol NA NA NA Belongs to the UPF0518 family. NA PE1 8 +NX_Q86V88 Magnesium-dependent phosphatase 1 176 20109 5.95 0 Nucleoplasm NA Magnesium-dependent phosphatase which may act as a tyrosine phosphatase. NA Belongs to the HAD-like hydrolase superfamily. NA PE1 14 +NX_Q86V97 Kelch repeat and BTB domain-containing protein 6 674 76138 5.74 0 NA NA NA NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 13 +NX_Q86VB7 Scavenger receptor cysteine-rich type 1 protein M130 1156 125451 5.61 1 Secreted;Cell membrane NA After shedding, the soluble form (sCD163) may play an anti-inflammatory role, and may be a valuable diagnostic parameter for monitoring macrophage activation in inflammatory conditions.;Exhibits the higher capacity for ligand endocytosis and the more pronounced surface expression when expressed in cells.;Acute phase-regulated receptor involved in clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages and may thereby protect tissues from free hemoglobin-mediated oxidative damage. May play a role in the uptake and recycling of iron, via endocytosis of hemoglobin/haptoglobin and subsequent breakdown of heme. Binds hemoglobin/haptoglobin complexes in a calcium-dependent and pH-dependent manner. Exhibits a higher affinity for complexes of hemoglobin and multimeric haptoglobin of HP*1F phenotype than for complexes of hemoglobin and dimeric haptoglobin of HP*1S phenotype. Induces a cascade of intracellular signals that involves tyrosine kinase-dependent calcium mobilization, inositol triphosphate production and secretion of IL6 and CSF1. Phosphorylated.;A soluble form (sCD163) is produced by proteolytic shedding which can be induced by lipopolysaccharide, phorbol ester and Fc region of immunoglobulin gamma. This cleavage is dependent on protein kinase C and tyrosine kinases and can be blocked by protease inhibitors. The shedding is inhibited by the tissue inhibitor of metalloproteinase TIMP3, and thus probably induced by membrane-bound metalloproteinases ADAMs. NA Scavenging of heme from plasma PE1 12 +NX_Q86VD1 MORC family CW-type zinc finger protein 1 984 112881 8.11 0 Nucleus NA Required for spermatogenesis. NA NA NA PE1 3 +NX_Q86VD7 Mitochondrial coenzyme A transporter SLC25A42 318 35409 10.08 6 Mitochondrion inner membrane;Mitochondrion Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression Mitochondrial carrier mediating the transport of coenzyme A (CoA) in mitochondria in exchange for intramitochondrial (deoxy)adenine nucleotides and adenosine 3',5'-diphosphate. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 19 +NX_Q86VD9 GPI mannosyltransferase 4 579 63471 8.66 8 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers a fourth mannose to some trimannosyl-GPIs during GPI precursor assembly. The presence of a fourth mannose in GPI is facultative and only scarcely detected, suggesting that it only exists in some tissues. NA Belongs to the glycosyltransferase 22 family. PIGZ subfamily. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Synthesis of glycosylphosphatidylinositol (GPI) PE2 3 +NX_Q86VE0 Myb-related transcription factor, partner of profilin 399 42508 10.08 0 Nucleoplasm;Nucleus NA Transcriptional repressor; DNA-binding protein that specifically recognizes the core sequence 5'-YAAC[GT]G-3'. Dimerization with PFN1 reduces its DNA-binding capacity (By similarity). NA NA NA PE1 19 +NX_Q86VE3 Spermidine/spermine N(1)-acetyltransferase-like protein 1 695 75812 5.16 0 NA NA NA NA Belongs to the acetyltransferase family. NA PE1 X +NX_Q86VE9 Serine incorporator 5 423 47009 7.88 9 Cell membrane;Centrosome;Cytoplasmic vesicle;Cytosol;Perinuclear region NA Restriction factor required to restrict infectivity of lentiviruses, such as HIV-1: acts by inhibiting an early step of viral infection. Impairs the penetration of the viral particle into the cytoplasm (PubMed:26416733, PubMed:26416734). Enhances the incorporation of serine into phosphatidylserine and sphingolipids. May play a role in providing serine molecules for the formation of myelin glycosphingolipids in oligodendrocytes (By similarity). NA Belongs to the TDE1 family. Serine biosynthesis PE1 5 +NX_Q86VF2 Immunoglobulin-like and fibronectin type III domain-containing protein 1 1251 137763 7.51 0 Z line;Nucleus;Midbody ring NA NA NA NA NA PE1 1 +NX_Q86VF5 2-acylglycerol O-acyltransferase 3 341 38730 8.86 3 Endoplasmic reticulum membrane;Perinuclear region;Centrosome NA Catalyzes the formation of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. Also able to catalyze the terminal step in triacylglycerol synthesis by using diacylglycerol and fatty acyl-CoA as substrates. Has a preference toward palmitoyl-CoA and oleoyl-CoA. May be involved in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes. Ubiquitinated. Ubiquitination leads to proteasomal degradation. Belongs to the diacylglycerol acyltransferase family. Glycerolipid metabolism; triacylglycerol biosynthesis.;Glycerolipid metabolism;Metabolic pathways;Fat digestion and absorption;Triglyceride biosynthesis PE1 7 +NX_Q86VF7 Nebulin-related-anchoring protein 1730 197074 9.24 0 Centrosome NA May be involved in anchoring the terminal actin filaments in the myofibril to the membrane and in transmitting tension from the myofibrils to the extracellular matrix. NA NA NA PE1 10 +NX_Q86VG3 Protein C11orf74 221 25407 4.39 0 Cytosol NA Seems to play a role in ciliary BBSome localization, maybe through interaction with IFT-A complex. NA NA NA PE1 11 +NX_Q86VH2 Kinesin-like protein KIF27 1401 160283 6.9 0 Cilium;Cytoskeleton NA Plays an essential role in motile ciliogenesis. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KIF27 subfamily. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 9 +NX_Q86VH4 Leucine-rich repeat transmembrane neuronal protein 4 590 67217 9.12 1 Postsynaptic cell membrane;Cell membrane NA May play a role in the development and maintenance of the vertebrate nervous system. Exhibits strong synaptogenic activity, restricted to excitatory presynaptic differentiation (By similarity). NA Belongs to the LRRTM family. Neurexins and neuroligins PE1 2 +NX_Q86VH5 Leucine-rich repeat transmembrane neuronal protein 3 581 65896 9.28 1 Nucleoplasm;Cell membrane;Nucleus;Postsynaptic cell membrane NA Exhibits a limited synaptogenic activity in vitro, restricted to excitatory presynaptic differentiation (By similarity). May play a role in the development and maintenance of the vertebrate nervous system. NA Belongs to the LRRTM family. Neurexins and neuroligins PE1 10 +NX_Q86VI1 Exocyst complex component 3-like protein 746 81678 5.44 0 Cytoplasmic vesicle;Secretory vesicle;Cell membrane NA As part of the exocyst, may play a role in regulated exocytosis of insulin granules. NA Belongs to the SEC6 family. NA PE1 16 +NX_Q86VI3 Ras GTPase-activating-like protein IQGAP3 1631 184699 7.34 0 Nucleoplasm;Nucleolus NA NA NA NA Regulation of actin cytoskeleton;RHO GTPases activate IQGAPs PE1 1 +NX_Q86VI4 Lysosomal-associated transmembrane protein 4B 317 35123 9.05 4 Golgi apparatus;Cell membrane;Endosome membrane;Endomembrane system;Lysosome membrane;Cell projection;Late endosome membrane;Multivesicular body membrane;Multivesicular body lumen NA Required for optimal lysosomal function (PubMed:21224396). Blocks EGF-stimulated EGFR intraluminal sorting and degradation. Conversely by binding with the phosphatidylinositol 4,5-bisphosphate, regulates its PIP5K1C interaction, inhibits HGS ubiquitination and relieves LAPTM4B inhibition of EGFR degradation (PubMed:25588945). Recruits SLC3A2 and SLC7A5 (the Leu transporter) to the lysosome, promoting entry of leucine and other essential amino acid (EAA) into the lysosome, stimulating activation of proton-transporting vacuolar (V)-ATPase protein pump (V-ATPase) and hence mTORC1 activation (PubMed:25998567). Plays a role as negative regulator of TGFB1 production in regulatory T cells (PubMed:26126825). Binds ceramide and facilitates its exit from late endosome in order to control cell death pathways (PubMed:26280656). Undergoes proteolytic cleavage following delivery to the lysosomes.;Ubiquitinated by NEDD4. Belongs to the LAPTM4/LAPTM5 transporter family. Lysosome PE1 8 +NX_Q86VK4 Zinc finger protein 410 478 52113 5.86 0 Nucleus NA Transcription factor that activates transcription of matrix-remodeling genes such as MMP1 during fibroblast senescence. Sumoylated. Sumoylation increases its half-life, possibly by blocking ubiquitin-mediated degradation. NA NA PE1 14 +NX_Q86VL8 Multidrug and toxin extrusion protein 2 602 65085 8.63 13 Endoplasmic reticulum;Cell membrane NA Solute transporter for tetraethylammonium (TEA), 1-methyl-4-phenylpyridinium (MPP), cimetidine, N-methylnicotinamide, metformin, creatinine, guanidine, procainamide, topotecan, estrone sulfate, acyclovir, and ganciclovir. Responsible for the secretion of cationic drugs across the brush border membranes. NA Belongs to the multi antimicrobial extrusion (MATE) (TC 2.A.66.1) family. Transport of bile salts and organic acids, metal ions and amine compounds PE1 17 +NX_Q86VM9 Zinc finger CCCH domain-containing protein 18 953 106378 8.39 0 Nucleus speckle;Nucleus NA NA NA NA NA PE1 16 +NX_Q86VN1 Vacuolar protein-sorting-associated protein 36 386 43817 6.75 0 Cytoplasm;Cell membrane;Cell junction;Membrane;Endosome;Late endosome;Lysosome;Cytoplasmic vesicle;Nucleus NA Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. Its ability to bind ubiquitin probably plays a role in endosomal sorting of ubiquitinated cargo proteins by ESCRT complexes. The ESCRT-II complex may also play a role in transcription regulation, possibly via its interaction with ELL. Binds phosphoinosides such as PtdIns(3,4,5)P3. NA Belongs to the VPS36 family. Endocytosis;Endosomal Sorting Complex Required For Transport (ESCRT) PE1 13 +NX_Q86VP1 Tax1-binding protein 1 789 90877 5.3 0 Nucleoplasm;Cytosol;Nucleus NA Inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degraded by caspase-3-like family proteins upon TNF-induced apoptosis. May also play a role in the pro-inflammatory cytokine IL-1 signaling cascade. Phosphorylated in the C-terminal region by CHUK/IKKA leading to NF-kappa-B signaling down-regulation. NA Negative regulators of DDX58/IFIH1 signaling;Regulation of TNFR1 signaling PE1 7 +NX_Q86VP3 Phosphofurin acidic cluster sorting protein 2 889 97702 6.15 0 Endoplasmic reticulum;Mitochondrion Epileptic encephalopathy, early infantile, 66 Multifunctional sorting protein that controls the endoplasmic reticulum (ER)-mitochondria communication, including the apposition of mitochondria with the ER and ER homeostasis. In addition, in response to apoptotic inducer, translocates BIB to mitochondria, which initiates a sequence of events including the formation of mitochondrial truncated BID, the release of cytochrome c, the activation of caspase-3 thereby causing cell death. May also be involved in ion channel trafficking, directing acidic cluster-containing ion channels to distinct subcellular compartments. NA Belongs to the PACS family. NA PE1 14 +NX_Q86VP6 Cullin-associated NEDD8-dissociated protein 1 1230 136376 5.52 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Cytosol;Nucleus NA Key assembly factor of SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complexes that promotes the exchange of the substrate-recognition F-box subunit in SCF complexes, thereby playing a key role in the cellular repertoire of SCF complexes. Acts as a F-box protein exchange factor. The exchange activity of CAND1 is coupled with cycles of neddylation conjugation: in the deneddylated state, cullin-binding CAND1 binds CUL1-RBX1, increasing dissociation of the SCF complex and promoting exchange of the F-box protein. Probably plays a similar role in other cullin-RING E3 ubiquitin ligase complexes. NA Belongs to the CAND family. Iron uptake and transport;Neutrophil degranulation;Neddylation PE1 12 +NX_Q86VQ0 Lebercilin 697 80554 7.31 0 Cilium;Cilium basal body;Centrosome;Cilium axoneme;Cytoskeleton Leber congenital amaurosis 5 Involved in intraflagellar protein (IFT) transport in photoreceptor cilia. NA Belongs to the LCA5 family. NA PE1 6 +NX_Q86VQ1 Glucocorticoid-induced transcript 1 protein 547 58024 9.54 0 Nucleolus NA NA NA NA NA PE1 7 +NX_Q86VQ3 Thioredoxin domain-containing protein 2 553 60404 4.81 0 Cytoplasm NA Probably plays a regulatory role in sperm development. May participate in regulation of fibrous sheath (FS) assembly by supporting the formation of disulfide bonds during sperm tail morphogenesis. May also be required to rectify incorrect disulfide pairing and generate suitable pairs between the FS constituents. Can reduce disulfide bonds in vitro in the presence of NADP and thioredoxin reductase. NA NA NA PE1 18 +NX_Q86VQ6 Thioredoxin reductase 3 643 70683 8.13 0 Cytoplasm;Microsome;Nucleoplasm;Endoplasmic reticulum;Cytosol;Nucleus NA Displays thioredoxin reductase, glutaredoxin and glutathione reductase activities. Catalyzes disulfide bond isomerization. Promotes disulfide bond formation between GPX4 and various sperm proteins and may play a role in sperm maturation by promoting formation of sperm structural components (By similarity). NA Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. Pyrimidine metabolism;Selenocompound metabolism PE1 3 +NX_Q86VR2 Reticulophagy regulator 3 466 51396 4.83 3 Membrane;Nucleoplasm;Cytosol;Nucleus membrane NA Mediates NRF1-enhanced neurite outgrowth. NA Belongs to the RETREG family. NA PE1 17 +NX_Q86VR7 V-set and immunoglobulin domain-containing protein 10-like 867 91625 7.91 1 Membrane;Nucleoplasm NA NA NA NA NA PE1 19 +NX_Q86VR8 Four-jointed box protein 1 437 48507 10.66 0 Cytoplasmic vesicle;Secreted NA Acts as an inhibitor of dendrite extension and branching. Glycosylated.;Undergoes proteolytic cleavage. Belongs to the FJX1/FJ family. NA PE1 11 +NX_Q86VS3 IQ domain-containing protein H 1027 117349 9.19 0 Cytosol NA May play a regulatory role in spermatogenesis. NA NA NA PE1 15 +NX_Q86VS8 Protein Hook homolog 3 718 83126 5.12 0 Golgi apparatus;Cytosol;Centriolar satellite;Cytoskeleton NA Probably serves as a target for the spiC protein from Salmonella typhimurium, which inactivates it, leading to a strong alteration in cellular trafficking (By similarity). Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). May regulate clearance of endocytosed receptors such as MSR1. Participates in defining the architecture and localization of the Golgi complex. Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track) (PubMed:25035494). NA Belongs to the hook family. NA PE1 8 +NX_Q86VU5 Catechol O-methyltransferase domain-containing protein 1 262 28809 8.71 1 Membrane;Golgi apparatus;Cytosol;Cell membrane NA Putative O-methyltransferase. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O-methyltransferase family. NA PE1 10 +NX_Q86VV4 Ran-binding protein 3-like 465 52211 9.15 0 Cytoplasm;Nucleoplasm;Nucleus NA Nuclear export factor for BMP-specific SMAD1/5/8 that plays a critical role in terminating BMP signaling and regulating mesenchymal stem cell differentiation by blocking osteoblast differentiation to promote myogenic differention. Directly recognizes dephosphorylated SMAD1/5/8 and mediates their nuclear export in a Ran-dependent manner. NA NA NA PE1 5 +NX_Q86VV8 Rotatin 2226 248630 6.25 0 Centrosome;Cilium basal body Microcephaly, short stature, and polymicrogyria with or without seizures Involved in the genetic cascade that governs left-right specification. Plays a role in the maintenance of a normal ciliary structure. Required for correct asymmetric expression of NODAL, LEFTY and PITX2. NA NA NA PE1 18 +NX_Q86VW0 SEC14 domain and spectrin repeat-containing protein 1 696 79348 4.99 0 Cytoskeleton NA May act as the primary docking protein directing membrane turnover and assembly of the transient receptor potential channels TRPC4 and TRPC5. Binds phospholipids such as phosphatidylinositol monophosphates, phosphatidylinositol diphosphates (PIP2s) and phosphatidic acid, but not less polar lipids including phosphatidylcholine, phosphatidylserine, and phosphatidylinositol. The binding to PIP2s is calcium dependent. Might be involved in the plasma membrane localization of CTNNB1. NA Belongs to the SOLO family. NA PE1 2 +NX_Q86VW1 Solute carrier family 22 member 16 577 64614 8.44 12 Membrane;Cell membrane NA High affinity carnitine transporter; the uptake is partially sodium-ion dependent. Thought to mediate the L-carnitine secretion mechanism from testis epididymal epithelium into the lumen which is involved in the maturation of spermatozoa. Also transports organic cations such as tetraethylammonium (TEA) and doxorubicin. The uptake of TEA is inhibited by various organic cations. The uptake of doxorubicin is sodium-independent. NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. Organic cation transport PE1 6 +NX_Q86VW2 Rho guanine nucleotide exchange factor 25 580 63843 6.19 0 Cytoplasmic vesicle;Sarcomere;Cell membrane NA May play a role in actin cytoskeleton reorganization in different tissues since its activation induces formation of actin stress fibers. It works as a guanine nucleotide exchange factor for Rho family of small GTPases. Links specifically G alpha q/11-coupled receptors to RHOA activation. May be an important regulator of processes involved in axon and dendrite formation. In neurons seems to be an exchange factor primarily for RAC1. Involved in skeletal myogenesis (By similarity). NA NA G alpha (q) signalling events PE1 12 +NX_Q86VX2 COMM domain-containing protein 7 200 22540 5.69 0 Cytoplasmic vesicle NA May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). Associates with the NF-kappa-B complex and suppresses its transcriptional activity (PubMed:15799966). NA NA Neddylation PE1 20 +NX_Q86VX9 Vacuolar fusion protein MON1 homolog A 652 72895 8.43 0 Cytosol NA Plays an important role in membrane trafficking through the secretory apparatus. Not involved in endocytic trafficking to lysosomes (By similarity). Acts in concert with CCZ1, as a guanine exchange factor (GEF) for RAB7, promotes the exchange of GDP to GTP, converting it from an inactive GDP-bound form into an active GTP-bound form (PubMed:23084991). NA Belongs to the MON1/SAND family. RAB GEFs exchange GTP for GDP on RABs PE1 3 +NX_Q86VY4 Testis-specific Y-encoded-like protein 5 417 45143 9.57 0 Golgi apparatus;Cytosol NA Involved in modulation of cell growth and cellular response to gamma radiation probably via regulation of the Akt signaling pathway. Involved in regulation of p53/TP53. Suppresses p53/TP53 protein levels and promotes its ubiquitination; the function is dependent on USP7 and independent on MDM2. Proposed to displace p53/TP53 from interaction with USP7. NA Belongs to the nucleosome assembly protein (NAP) family. NA PE1 8 +NX_Q86VY9 Transmembrane protein 200A 491 54356 9.24 2 Membrane NA NA NA Belongs to the TMEM200 family. NA PE1 6 +NX_Q86VZ1 P2Y purinoceptor 8 359 40635 9.62 7 Cell membrane NA Probable receptor for purines coupled to G-proteins. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction PE1 X +NX_Q86VZ2 WD repeat-containing protein 5B 330 36338 7.53 0 NA NA May function as a substrate receptor for CUL4-DDB1 ubiquitin E3 ligase complex. NA Belongs to the WD repeat WDR5/wds family. NA PE1 3 +NX_Q86VZ4 Low-density lipoprotein receptor-related protein 11 500 53311 6.04 1 Membrane;Mitochondrion NA NA NA Belongs to the LDLR family. NA PE1 6 +NX_Q86VZ5 Phosphatidylcholine:ceramide cholinephosphotransferase 1 413 48617 8.66 5 Golgi apparatus;Nucleolus;Nucleoplasm;Golgi apparatus membrane;Cytosol NA Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Golgi apparatus SMS1 directly and specifically recognizes the choline head group on the substrate, requiring two fatty chains on the choline-P donor molecule in order to be recognized efficiently as a substrate. Major form in macrophages. Required for cell growth in certain cell types such as HeLa cells. Suppresses BAX-mediated apoptosis and also prevents cell death in response to stimuli such as hydrogen peroxide, osmotic stress, elevated temperature and exogenously supplied sphingolipids. May protect against cell death by reversing the stress-inducible increase in levels of proapoptotic ceramide. NA Belongs to the sphingomyelin synthase family. Sphingolipid metabolism;Metabolic pathways;Sphingolipid de novo biosynthesis PE1 10 +NX_Q86VZ6 Juxtaposed with another zinc finger protein 1 243 27079 8.63 0 Nucleoplasm;Nucleolus;Nucleus NA Acts as a transcriptional corepressor of orphan nuclear receptor NR2C2 (PubMed:15302918). Inhibits expression of the gluconeogenesis enzyme PCK2 through inhibition of NR2C2 activity (By similarity). Also involved in transcriptional activation of NAMPT by promoting expression of PPARA and PPARD (By similarity). Plays a role in lipid metabolism by suppressing lipogenesis, increasing lipolysis and decreasing lipid accumulation in adipose tissue (By similarity). Plays a role in glucose homeostasis by improving glucose metabolism and insulin sensitivity (By similarity). NA NA NA PE1 7 +NX_Q86W10 Cytochrome P450 4Z1 505 59086 9.29 1 Microsome membrane;Endoplasmic reticulum membrane NA NA NA Belongs to the cytochrome P450 family. NA PE1 1 +NX_Q86W11 Zinc finger and SCAN domain-containing protein 30 494 56364 6.24 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 18 +NX_Q86W24 NACHT, LRR and PYD domains-containing protein 14 1093 124733 6.18 0 Cytoplasm;Cytosol NA May be involved in inflammation and spermatogenesis. NA Belongs to the NLRP family. NA PE1 11 +NX_Q86W25 NACHT, LRR and PYD domains-containing protein 13 1043 118884 5.43 0 NA NA Involved in inflammation. NA Belongs to the NLRP family. NA PE1 19 +NX_Q86W26 NACHT, LRR and PYD domains-containing protein 10 655 75032 6.81 0 Nucleoplasm;Cytoplasm;Nucleus membrane;Cell membrane NA Inhibits autoprocessing of CASP1, CASP1-dependent IL1B secretion, PYCARD aggregation and PYCARD-mediated apoptosis but not apoptosis induced by FAS or BID (PubMed:15096476). Displays anti-inflammatory activity (PubMed:20393137). Required for immunity against C.albicans infection (By similarity). Involved in the innate immune response by contributing to proinflammatory cytokine release in response to invasive bacterial infection (PubMed:22672233). Contributes to T-cell-mediated inflammatory responses in the skin (By similarity). Plays a role in protection against periodontitis through its involvement in induction of IL1A via ERK activation in oral epithelial cells infected with periodontal pathogens (PubMed:28766990). Exhibits both ATPase and GTPase activities (PubMed:23861819). NA Belongs to the NLRP family. NA PE1 11 +NX_Q86W28 NACHT, LRR and PYD domains-containing protein 8 1048 119430 8.32 0 Cytoplasm NA Involved in inflammation. NA Belongs to the NLRP family. NA PE2 19 +NX_Q86W33 Transmembrane protein adipocyte-associated 1 373 41053 5.72 7 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the UPF0359 family. NA PE1 3 +NX_Q86W34 Archaemetzincin-2 360 41263 8.41 0 Nucleoplasm;Cytosol;Nucleus NA Zinc metalloprotease. Exhibits activity against angiotensin-3 in vitro. Does not hydrolyze either neurogranin or angiotensin-2. NA Belongs to the peptidase M54 family. NA PE1 17 +NX_Q86W42 THO complex subunit 6 homolog 341 37535 7.12 0 Nucleoplasm;Nucleus speckle;Nucleus Beaulieu-Boycott-Innes syndrome Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Plays a role in apoptosis negative control involved in brain development. NA Belongs to the WD repeat THOC6 family. RNA transport;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 16 +NX_Q86W47 Calcium-activated potassium channel subunit beta-4 210 23949 6.29 2 Membrane;Cytosol NA Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Decreases the gating kinetics and calcium sensitivity of the KCNMA1 channel, but with fast deactivation kinetics. May decrease KCNMA1 channel openings at low calcium concentrations but increases channel openings at high calcium concentrations. Makes KCNMA1 channel resistant to 100 nM charybdotoxin (CTX) toxin concentrations. Phosphorylated. Phosphorylation modulates its effect on KCNMA1 activation kinetics.;N-glycosylated. A highly glycosylated form is promoted by KCNMA1. Glycosylation, which is not required for the interaction with KCNMA1 and subcellular location, increases protection against charybdotoxin. Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB4 subfamily. Vascular smooth muscle contraction;Ca2+ activated K+ channels;cGMP effects PE1 12 +NX_Q86W50 RNA N6-adenosine-methyltransferase METTL16 562 63621 8.08 0 Nucleoplasm;Cytosol;Nucleus NA RNA N6-methyltransferase that methylates adenosine residues at the N(6) position of a subset of RNAs and is involved in S-adenosyl-L-methionine homeostasis by regulating expression of MAT2A transcripts (PubMed:28525753, PubMed:30197299, PubMed:30197297). Able to N6-methylate a subset of mRNAs and U6 small nuclear RNAs (U6 snRNAs) (PubMed:28525753). In contrast to the METTL3-METTL14 heterodimer, only able to methylate a limited number of RNAs: requires both a 5'UACAGAGAA-3' nonamer sequence and a specific RNA structure (PubMed:28525753, PubMed:30197299, PubMed:30197297). Plays a key role in S-adenosyl-L-methionine homeostasis by mediating N6-methylation of MAT2A mRNAs, altering splicing and/or stability of MAT2A transcripts: in presence of S-adenosyl-L-methionine, binds the 3'-UTR region of MAT2A mRNA and specifically N6-methylates the first hairpin of MAT2A mRNA, impairing MAT2A expression (PubMed:28525753). In S-adenosyl-L-methionine-limiting conditions, binds the 3'-UTR region of MAT2A mRNA but stalls due to the lack of a methyl donor, preventing N6-methylation and promoting expression of MAT2A (PubMed:28525753). In addition to mRNAs, also able to mediate N6-methylation of U6 small nuclear RNA (U6 snRNA): specifically N6-methylates adenine in position 43 of U6 snRNAs (PubMed:28525753, PubMed:29051200). Also able to bind various lncRNAs (PubMed:29051200). Specifically binds the 3'-end of the MALAT1 long non-coding RNA (PubMed:27872311). NA Belongs to the methyltransferase superfamily. METTL16/RlmF family. NA PE1 17 +NX_Q86W54 Spermatogenesis-associated protein 24 205 23587 7.77 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleolus NA Binds DNA with high affinity but does not bind to TATA boxes. Synergises with GMNN and TBP in activation of TATA box-containing promoters and with GMNN and TBPL1 in activation of the NF1 TATA-less promoter. May play a role in cytoplasm movement and removal during spermiogenesis (By similarity). NA Belongs to the SPATA24 family. NA PE1 5 +NX_Q86W56 Poly(ADP-ribose) glycohydrolase 976 111110 6.03 0 Cytoplasm;Mitochondrion;Mitochondrion matrix;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA Poly(ADP-ribose) glycohydrolase that degrades poly(ADP-ribose) by hydrolyzing the ribose-ribose bonds present in poly(ADP-ribose) (PubMed:21892188, PubMed:23102699, PubMed:23474714). PARG acts both as an endo- and exoglycosidase, releasing poly(ADP-ribose) of different length as well as ADP-ribose monomers (PubMed:23102699, PubMed:23481255). It is however unable to cleave the ester bond between the terminal ADP-ribose and ADP-ribosylated residues, leaving proteins that are mono-ADP-ribosylated (PubMed:21892188, PubMed:23474714). Poly(ADP-ribose) is synthesized after DNA damage is only present transiently and is rapidly degraded by PARG (PubMed:23102699). Required to prevent detrimental accumulation of poly(ADP-ribose) upon prolonged replicative stress, while it is not required for recovery from transient replicative stress (PubMed:24906880). Required for retinoid acid-dependent gene transactivation, probably by removing poly(ADP-ribose) from histone demethylase KDM4D, allowing chromatin derepression at RAR-dependent gene promoters (PubMed:23102699). Involved in the synthesis of ATP in the nucleus, together with PARP1, NMNAT1 and NUDT5 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). NA Belongs to the poly(ADP-ribose) glycohydrolase family. POLB-Dependent Long Patch Base Excision Repair PE1 10 +NX_Q86W67 Protein FAM228A 206 23752 9.07 0 NA NA NA NA Belongs to the FAM228 family. NA PE2 2 +NX_Q86W74 Ankyrin repeat domain-containing protein 46 232 25967 6.65 1 Membrane;Cytosol NA NA NA NA NA PE1 8 +NX_Q86W92 Liprin-beta-1 1011 114024 5.4 0 Cytoplasm;Cytosol;Cell membrane NA May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A. NA Belongs to the liprin family. Liprin-beta subfamily. Receptor-type tyrosine-protein phosphatases PE1 12 +NX_Q86WA6 Valacyclovir hydrolase 291 32543 9.2 0 Mitochondrion NA Serine hydrolase that catalyzes the hydrolytic activation of amino acid ester prodrugs of nucleoside analogs such as valacyclovir and valganciclovir. Activates valacyclovir to acyclovir. May play a role in detoxification processes. It is a specific alpha-amino acid ester hydrolase that prefers small, hydrophobic, and aromatic side chains and does not have a stringent requirement for the leaving group other than preferring a primary alcohol. NA Belongs to the AB hydrolase superfamily. Lipase family. Phase I - Functionalization of compounds PE1 6 +NX_Q86WA8 Lon protease homolog 2, peroxisomal 852 94617 6.88 0 Peroxisome matrix NA ATP-dependent serine protease that mediates the selective degradation of misfolded and unassembled polypeptides in the peroxisomal matrix. Necessary for type 2 peroxisome targeting signal (PTS2)-containing protein processing and facilitates peroxisome matrix protein import (By similarity). May indirectly regulate peroxisomal fatty acid beta-oxidation through degradation of the self-processed forms of TYSND1. NA Belongs to the peptidase S16 family. Association of TriC/CCT with target proteins during biosynthesis;Peroxisomal protein import PE1 16 +NX_Q86WA9 Sodium-independent sulfate anion transporter 606 65299 7.02 12 Golgi apparatus;Cell membrane;Lysosome membrane;Nucleoplasm;Cytoplasmic vesicle NA Exhibits sodium-independent sulfate anion transporter activity that may cooperate with SLC26A2 to mediate DIDS-sensitive sulfate uptake into high endothelial venules endothelial cells (HEVEC). NA Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. Multifunctional anion exchangers PE1 17 +NX_Q86WB0 Nuclear-interacting partner of ALK 502 55262 5.44 0 Nucleoplasm;Nucleus membrane;Nucleus NA Essential component of a SCF-type E3 ligase complex, SCF(NIPA), a complex that controls mitotic entry by mediating ubiquitination and subsequent degradation of cyclin B1 (CCNB1). Its cell-cycle-dependent phosphorylation regulates the assembly of the SCF(NIPA) complex, restricting CCNB1 ubiquitination activity to interphase. Its inactivation results in nuclear accumulation of CCNB1 in interphase and premature mitotic entry. May have an antiapoptotic role in NPM-ALK-mediated signaling events. Phosphorylated. Phosphorylated on Ser residues at G2/M phase, but not during S and G0 phases. May also be weakly phosphorylated on Tyr residues. Ser-354 phosphorylation, a major site during the course of cell-cycle-dependent phosphorylation, results in its dissociation from the SCF(NIPA) complex, thereby preventing CCNB1 degradation leading to mitotic entry. NA Protein modification; protein ubiquitination. PE1 7 +NX_Q86WB7 Protein unc-93 homolog A 457 50270 7.46 11 Cell membrane NA NA NA Belongs to the unc-93 family. NA PE1 6 +NX_Q86WC4 Osteopetrosis-associated transmembrane protein 1 334 37257 5.69 1 Nucleoplasm;Cytosol;Lysosome membrane;Cytoplasmic vesicle Osteopetrosis, autosomal recessive 5 Required for osteoclast and melanocyte maturation and function. Highly N-glycosylated.;Undergoes proteolytic cleavage in the luminal domain, the cleaved fragments might be linked by disulfide bonds with the remnant of the protein. Belongs to the OSTM1 family. Stimuli-sensing channels PE1 6 +NX_Q86WC6 Protein phosphatase 1 regulatory subunit 27 154 17438 6.51 0 NA NA Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. NA NA NA PE1 17 +NX_Q86WD7 Serpin A9 417 46557 9.58 0 Membrane;Cytoplasm;Secreted NA Protease inhibitor that inhibits trypsin and trypsin-like serine proteases (in vitro). Inhibits plasmin and thrombin with lower efficiency (in vitro). NA Belongs to the serpin family. NA PE1 14 +NX_Q86WG3 Caytaxin 371 42120 4.54 0 Cytoplasm;Mitochondrion;Growth cone;Presynapse;Axon;Dendrite Cerebellar ataxia, cayman type Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar cortex. May play a role in neurotransmission through regulation of glutaminase/GLS, an enzyme responsible for the production in neurons of the glutamate neurotransmitter. Alternatively, may regulate the localization of mitochondria within axons and dendrites. May be ubiquitinated by STUB1.;Cleaved by CASP3 and CASP7. The potential C-terminal product released by CASP3 cleavage may inhibit the ERK signaling pathway through MAP2K2. NA NA PE1 19 +NX_Q86WG5 Myotubularin-related protein 13 1849 208464 6.62 0 Cytoplasm;Endosome membrane;Membrane;Nucleoplasm;Cytosol;Axon;Perinuclear region;Cytoskeleton Charcot-Marie-Tooth disease 4B2 Guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28 (PubMed:20937701, PubMed:25648148). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701, PubMed:25648148). In response to starvation-induced autophagy, activates RAB21 which in turn binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion (PubMed:25648148). Acts as an adapter for the phosphatase MTMR2 (By similarity). Increases MTMR2 catalytic activity towards phosphatidylinositol 3,5-bisphosphate and to a lesser extent towards phosphatidylinositol 3-phosphate (By similarity). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Synthesis of PIPs at the plasma membrane;RAB GEFs exchange GTP for GDP on RABs PE1 11 +NX_Q86WH2 Ras association domain-containing protein 3 238 27562 7.02 0 Cytoplasm;Cytosol;Cell membrane;Cytoskeleton NA NA NA NA NA PE1 12 +NX_Q86WI0 LHFPL tetraspan subfamily member 1 protein 220 23777 8.39 3 Membrane NA NA NA Belongs to the LHFP family. NA PE2 X +NX_Q86WI1 Fibrocystin-L 4243 465734 5.71 1 Membrane NA NA NA NA NA PE1 8 +NX_Q86WI3 Protein NLRC5 1866 204595 5.99 0 Cytoplasm;Centrosome NA Probable regulator of the NF-kappa-B and type I interferon signaling pathways. May also regulate the type II interferon signaling pathway. Plays a role in homeostatic control of innate immunity and in antiviral defense mechanisms. NA Belongs to the NLRP family. DDX58/IFIH1-mediated induction of interferon-alpha/beta;Negative regulators of DDX58/IFIH1 signaling PE1 16 +NX_Q86WJ1 Chromodomain-helicase-DNA-binding protein 1-like 897 101000 6.45 0 Nucleoplasm;Nucleus NA DNA helicase which plays a role in chromatin-remodeling following DNA damage. Targeted to sites of DNA damage through interaction with poly(ADP-ribose) and functions to regulate chromatin during DNA repair. Able to catalyze nucleosome sliding in an ATP-dependent manner. Helicase activity is strongly stimulated upon poly(ADP-ribose)-binding. NA Belongs to the SNF2/RAD54 helicase family. Dual Incision in GG-NER;Formation of Incision Complex in GG-NER PE1 1 +NX_Q86WK6 Amphoterin-induced protein 1 493 55239 6.22 1 Cell membrane;Perikaryon;Nucleoplasm;Axon;Dendrite;Nucleus NA Promotes growth and fasciculation of neurites from cultured hippocampal neurons. May be involved in fasciculation as well as myelination of developing neural axons. May have a role in regeneration as well as neural plasticity in the adult nervous system. May mediate homophilic as well as heterophilic cell-cell interaction and contribute to signal transduction through its intracellular domain. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. NA Belongs to the immunoglobulin superfamily. AMIGO family. NA PE1 1 +NX_Q86WK7 Amphoterin-induced protein 3 504 55250 8.11 1 Membrane NA May mediate heterophilic cell-cell interaction. May contribute to signal transduction through its intracellular domain (By similarity). NA Belongs to the immunoglobulin superfamily. AMIGO family. NA PE1 3 +NX_Q86WK9 Membrane progestin receptor alpha 346 39719 6.99 7 Cytosol;Cell membrane NA Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432). Seems to act through a G(i) mediated pathway (PubMed:23763432). May be involved in oocyte maturation (PubMed:12601167). Involved in neurosteroid inhibition of apoptosis (PubMed:23161870). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23161870). NA Belongs to the ADIPOR family. NA PE1 1 +NX_Q86WN1 F-BAR and double SH3 domains protein 1 690 76942 5.23 0 Cytoplasm;Perikaryon;Cell projection;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA Promotes actin polymerization mediated by SNX9 and WASL. NA NA NA PE1 5 +NX_Q86WN2 Interferon epsilon 208 24414 8.75 0 Secreted NA Type I interferon required for maintaining basal levels of IFN-regulated genes, including 2'-5'-oligoadenylate synthetase, IRF7 and ISG15, in the female reproductive tract. Directly mediates protection against viral and bacterial genital infections (By similarity). NA Belongs to the alpha/beta interferon family. Cytokine-cytokine receptor interaction;RIG-I-like receptor signaling pathway;Jak-STAT signaling pathway PE2 9 +NX_Q86WP2 Vasculin 473 53339 6.56 0 Cytoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol;Nucleus NA Functions as a GC-rich promoter-specific transactivating transcription factor. NA Belongs to the vasculin family. NA PE1 5 +NX_Q86WQ0 Nuclear receptor 2C2-associated protein 139 15876 5.77 0 Nucleoplasm;Nucleus NA May act as a repressor of NR2C2-mediated transactivation by suppressing the binding between NR2C2/TR4 and the TR4-response element in target genes. NA Belongs to the NR2C2AP family. Nuclear Receptor transcription pathway PE1 19 +NX_Q86WR0 Coiled-coil domain-containing protein 25 208 24479 6.34 0 Golgi apparatus;Nucleoplasm;Cytosol NA NA NA Belongs to the CCDC25 family. NA PE1 8 +NX_Q86WR6 Uncharacterized protein C17orf64 236 27182 9.65 0 Cytoplasmic vesicle;Nucleoplasm NA NA NA NA NA PE1 17 +NX_Q86WR7 Proline and serine-rich protein 2 435 45802 6.74 0 Cytosol;Cell membrane NA NA NA NA NA PE1 10 +NX_Q86WS3 Oocyte-secreted protein 2 158 17971 4.71 0 Secreted NA NA NA Belongs to the PLAC1 family. NA PE1 11 +NX_Q86WS4 Uncharacterized protein C12orf40 652 74505 8.21 0 Golgi apparatus;Cytosol NA NA NA NA NA PE1 12 +NX_Q86WS5 Transmembrane protease serine 12 348 38605 8.91 1 Membrane NA NA NA Belongs to the peptidase S1 family. NA PE1 12 +NX_Q86WT1 Tetratricopeptide repeat protein 30A 665 76136 5.11 0 Cilium NA Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip. NA Belongs to the TTC30/dfy-1/fleer family. Intraflagellar transport PE1 2 +NX_Q86WT6 E3 ubiquitin-protein ligase TRIM69 500 57419 6.04 0 Cytoplasm;Nucleus speckle;Nucleus NA May have E3 ubiquitin-protein ligase activity. May play a role in apoptosis. Phosphorylated. Phosphorylation is necessary for nuclear localization. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 15 +NX_Q86WU2 Probable D-lactate dehydrogenase, mitochondrial 507 54871 6.2 0 Cytosol;Mitochondrion D-lactic aciduria Involved in D-lactate, but not L-lactate catabolic process. NA Belongs to the FAD-binding oxidoreductase/transferase type 4 family. Pyruvate metabolism;Mitochondrial protein import PE1 16 +NX_Q86WV1 Src kinase-associated phosphoprotein 1 359 41432 4.47 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Positively regulates T-cell receptor signaling by enhancing the MAP kinase pathway. Required for optimal conjugation between T-cells and antigen-presenting cells by promoting the clustering of integrin ITGAL on the surface of T-cells. May be involved in high affinity immunoglobulin epsilon receptor signaling in mast cells. Phosphorylated on tyrosines. Phosphorylation by FYN on Tyr-271 is required for GRB2 interaction. Phosphorylation by FYN on Tyr-295 abolishes interaction with FYB1. Tyr-232 is dephosphorylated by PTPRC (Probable). Belongs to the SKAP family. NA PE1 17 +NX_Q86WV5 CST complex subunit TEN1 123 13856 7.76 0 Nucleoplasm;Telomere;Nucleus NA Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation (PubMed:19854130). However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3' overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha (PubMed:22763445). The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins (PubMed:25483097). NA Belongs to the TEN1 family. NA PE1 17 +NX_Q86WV6 Stimulator of interferon genes protein 379 42193 6.6 4 Autophagosome membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Mitochondrion outer membrane;Endoplasmic reticulum membrane;Cell membrane;Nucleoplasm;Cytosol;Perinuclear region STING-associated vasculopathy, infantile-onset (Microbial infection) Antiviral activity is antagonized by oncoproteins, such as papillomavirus (HPV) protein E7 and adenovirus early E1A protein (PubMed:26405230). Such oncoproteins prevent the ability to sense cytosolic DNA (PubMed:26405230).;Facilitator of innate immune signaling that acts as a sensor of cytosolic DNA from bacteria and viruses and promotes the production of type I interferon (IFN-alpha and IFN-beta) (PubMed:18724357, PubMed:18818105, PubMed:19433799, PubMed:19776740, PubMed:23027953, PubMed:23910378, PubMed:23747010, PubMed:30842659). Innate immune response is triggered in response to non-CpG double-stranded DNA from viruses and bacteria delivered to the cytoplasm (PubMed:26300263). Acts by binding cyclic dinucleotides: recognizes and binds cyclic di-GMP (c-di-GMP), a second messenger produced by bacteria, and cyclic GMP-AMP (cGAMP), a messenger produced by CGAS in response to DNA virus in the cytosol (PubMed:21947006, PubMed:23258412, PubMed:23707065, PubMed:23722158, PubMed:26229117, PubMed:23910378, PubMed:23747010, PubMed:30842659). Upon binding of c-di-GMP or cGAMP, TMEM173/STING oligomerizes, translocates from the endoplasmic reticulum and is phosphorylated by TBK1 on the pLxIS motif, leading to recruitment and subsequent activation of the transcription factor IRF3 to induce expression of type I interferon and exert a potent anti-viral state (PubMed:22394562, PubMed:25636800, PubMed:30842653). In addition to promote the production of type I interferons, plays a direct role in autophagy (PubMed:30568238, PubMed:30842662). Following cGAMP-binding, TMEM173/STING buds from the endoplasmic reticulum into COPII vesicles, which then form the endoplasmic reticulum-Golgi intermediate compartment (ERGIC) (PubMed:30842662). The ERGIC serves as the membrane source for WIPI2 recruitment and LC3 lipidation, leading to formation of autophagosomes that target cytosolic DNA or DNA viruses for degradation by the lysosome (PubMed:30842662). The autophagy- and interferon-inducing activities can be uncoupled and autophagy induction is independent of TBK1 phosphorylation (PubMed:30568238, PubMed:30842662). Autophagy is also triggered upon infection by bacteria: following c-di-GMP-binding, which is produced by live Gram-positive bacteria, promotes reticulophagy (By similarity). Exhibits 2',3' phosphodiester linkage-specific ligand recognition: can bind both 2'-3' linked cGAMP (2'-3'-cGAMP) and 3'-3' linked cGAMP but is preferentially activated by 2'-3' linked cGAMP (PubMed:26300263, PubMed:23910378, PubMed:23747010). The preference for 2'-3'-cGAMP, compared to other linkage isomers is probably due to the ligand itself, whichs adopts an organized free-ligand conformation that resembles the TMEM173/STING-bound conformation and pays low energy costs in changing into the active conformation (PubMed:26150511). May be involved in translocon function, the translocon possibly being able to influence the induction of type I interferons (PubMed:18724357). May be involved in transduction of apoptotic signals via its association with the major histocompatibility complex class II (MHC-II) (By similarity). Ubiquitinated (PubMed:19285439, PubMed:19433799, PubMed:21074459, PubMed:25254379). Ubiquitinated via 'Lys-63'-linked ubiquitin chains in response to double-stranded DNA treatment, leading to relocalization to autophagosomes and subsequent degradation; this process is dependent on SQSTM1 (By similarity). 'Lys-63'-linked ubiquitination mediated by TRIM56 at Lys-150 promotes homodimerization and recruitment of the antiviral kinase TBK1 and subsequent production of IFN-beta (PubMed:21074459). 'Lys-48'-linked polyubiquitination at Lys-150 occurring after viral infection is mediated by RNF5 and leads to proteasomal degradation (PubMed:19285439). 'Lys-11'-linked polyubiquitination at Lys-150 by RNF26 leads to stabilize TMEM173/STING: it protects TMEM173/STING from RNF5-mediated 'Lys-48'-linked polyubiquitination (PubMed:25254379).;Phosphorylation by TBK1 leads to activation and production of IFN-beta (PubMed:18818105, PubMed:19433799, PubMed:25636800, PubMed:30842659, PubMed:30842653, PubMed:27302953). Following cyclic nucleotide (c-di-GMP or cGAMP)-binding, activation and translocation from the endoplasmic reticulum, TMEM173/STING is phosphorylated by TBK1 at Ser-366 in the pLxIS motif (PubMed:25636800). The phosphorylated pLxIS motif constitutes an IRF3-binding motif, leading to recruitment of the transcription factor IRF3 to induce type-I interferons and other cytokines (PubMed:25636800). Phosphorylated on tyrosine residues upon MHC-II aggregation (By similarity). Belongs to the TMEM173 family. RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;STING mediated induction of host immune responses;Regulation of innate immune responses to cytosolic DNA;IRF3-mediated induction of type I IFN;STAT6-mediated induction of chemokines;Neutrophil degranulation PE1 5 +NX_Q86WW8 Cytochrome c oxidase assembly factor 5 74 8376 8.97 0 Mitochondrion Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 Involved in an early step of the mitochondrial complex IV assembly process. NA Belongs to the PET191 family. NA PE1 2 +NX_Q86WX3 Active regulator of SIRT1 136 15434 10.75 0 Nucleoplasm;Nucleolus;Nucleus;Cytosol NA Direct regulator of SIRT1. Enhances SIRT1-mediated deacetylation of p53/TP53, thereby participating in inhibition of p53/TP53-mediated transcriptional activity. Citrullinated by PADI4. Belongs to the AROS family. Regulation of HSF1-mediated heat shock response PE1 22 +NX_Q86WZ0 HEAT repeat-containing protein 4 1026 117175 9.21 0 NA NA NA NA NA NA PE1 14 +NX_Q86WZ6 Zinc finger protein 227 799 92033 9.1 0 Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q86X02 Cerebellar degeneration-related protein 2-like 465 53010 5.7 0 Cytosol NA NA NA Belongs to the CDR2 family. NA PE1 17 +NX_Q86X10 Ral GTPase-activating protein subunit beta 1494 166799 6.33 0 Nucleus speckle NA Non-catalytic subunit of the heterodimeric RalGAP1 and RalGAP2 complexes which act as GTPase activators for the Ras-like small GTPases RALA and RALB. NA NA Translocation of SLC2A4 (GLUT4) to the plasma membrane PE1 20 +NX_Q86X19 Transmembrane protein 17 198 23046 6.3 4 Cilium membrane;Cytoskeleton NA Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). NA Belongs to the TMEM17 family. NA PE1 2 +NX_Q86X24 HORMA domain-containing protein 1 394 45200 5.66 0 Nucleoplasm;Nucleolus;Nucleus;Chromosome NA Plays a key role in meiotic progression. Regulates 3 different functions during meiosis: ensures that sufficient numbers of processed DNA double-strand breaks (DSBs) are available for successful homology search by increasing the steady-state numbers of single-stranded DSB ends. Promotes synaptonemal-complex formation independently of its role in homology search. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes. Phosphorylated at Ser-377 in a SPO11-dependent manner. NA NA PE1 1 +NX_Q86X27 Ras-specific guanine nucleotide-releasing factor RalGPS2 583 65167 8.86 0 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA Guanine nucleotide exchange factor for the small GTPase RALA. May be involved in cytoskeletal organization. May also be involved in the stimulation of transcription in a Ras-independent fashion (By similarity). NA NA NA PE1 1 +NX_Q86X29 Lipolysis-stimulated lipoprotein receptor 649 71439 8.29 1 Nucleoplasm;Cytosol;Cell membrane NA Probable role in the clearance of triglyceride-rich lipoprotein from blood. Binds chylomicrons, LDL and VLDL in presence of free fatty acids and allows their subsequent uptake in the cells (By similarity). NA Belongs to the immunoglobulin superfamily. LISCH7 family. LDL clearance;VLDL clearance PE1 19 +NX_Q86X40 Leucine-rich repeat-containing protein 28 367 41912 8.18 0 Golgi apparatus;Nucleoplasm;Mitochondrion NA NA NA NA NA PE1 15 +NX_Q86X45 Protein tilB homolog 466 54255 6.08 0 Cytoplasm;Cilium Ciliary dyskinesia, primary, 19 May play a role in dynein arm assembly, hence essential for proper axoneme building for cilia motility. NA Belongs to the tilB family. NA PE1 8 +NX_Q86X51 EZH inhibitory protein 503 51894 10.15 0 Cytoplasm;Nucleoplasm;Nucleus NA Inhibits PRC2/EED-EZH2 complex function thereby causing down-regulation of H3K27me3. In the PRC2/EED-EZH2 complex, interacts and inhibits EZH2 methyltransferase activity. NA NA NA PE1 X +NX_Q86X52 Chondroitin sulfate synthase 1 802 91784 9.31 1 Golgi stack membrane;Secreted Temtamy preaxial brachydactyly syndrome Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling. NA Belongs to the chondroitin N-acetylgalactosaminyltransferase family. Glycosaminoglycan biosynthesis - chondroitin sulfate;Metabolic pathways;Chondroitin sulfate biosynthesis;Defective CHSY1 causes TPBS PE1 15 +NX_Q86X53 Glutamate-rich protein 1 443 48984 4.68 0 Nucleoplasm;Cytosol;Nucleolus NA NA NA NA NA PE1 8 +NX_Q86X55 Histone-arginine methyltransferase CARM1 608 65854 6.25 0 Cytoplasm;Nucleoplasm;Nucleus NA Methylates (mono- and asymmetric dimethylation) the guanidino nitrogens of arginyl residues in several proteins involved in DNA packaging, transcription regulation, pre-mRNA splicing, and mRNA stability. Recruited to promoters upon gene activation together with histone acetyltransferases from EP300/P300 and p160 families, methylates histone H3 at 'Arg-17' (H3R17me), forming mainly asymmetric dimethylarginine (H3R17me2a), leading to activate transcription via chromatin remodeling. During nuclear hormone receptor activation and TCF7L2/TCF4 activation, acts synergically with EP300/P300 and either one of the p160 histone acetyltransferases NCOA1/SRC1, NCOA2/GRIP1 and NCOA3/ACTR or CTNNB1/beta-catenin to activate transcription. During myogenic transcriptional activation, acts together with NCOA3/ACTR as a coactivator for MEF2C. During monocyte inflammatory stimulation, acts together with EP300/P300 as a coactivator for NF-kappa-B. Acts as coactivator for PPARG, promotes adipocyte differentiation and the accumulation of brown fat tissue. Plays a role in the regulation of pre-mRNA alternative splicing by methylation of splicing factors. Also seems to be involved in p53/TP53 transcriptional activation. Methylates EP300/P300, both at 'Arg-2142', which may loosen its interaction with NCOA2/GRIP1, and at 'Arg-580' and 'Arg-604' in the KIX domain, which impairs its interaction with CREB and inhibits CREB-dependent transcriptional activation. Also methylates arginine residues in RNA-binding proteins PABPC1, ELAVL1 and ELAV4, which may affect their mRNA-stabilizing properties and the half-life of their target mRNAs. Auto-methylated on Arg-550. Methylation enhances transcription coactivator activity. Methylation is required for its role in the regulation of pre-mRNA alternative splicing (By similarity).;Phosphorylation at Ser-216 interferes with S-adenosyl-L-methionine binding and strongly reduces methyltransferase activity (By similarity). Phosphorylation at Ser-216 is strongly increased during mitosis, and decreases rapidly to a very low, basal level after entry into the G1 phase of the cell cycle. Phosphorylation at Ser-216 may promote location in the cytosol. Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family. RMTs methylate histone arginines;PPARA activates gene expression;RORA activates gene expression;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;Activation of gene expression by SREBF (SREBP);Transcriptional regulation of white adipocyte differentiation;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;Estrogen-dependent gene expression PE1 19 +NX_Q86X59 Putative uncharacterized protein C17orf82 251 25393 10.38 0 NA NA NA NA NA NA PE1 17 +NX_Q86X60 Protein FAM72B 149 16617 5.54 0 NA NA NA NA Belongs to the FAM72 family. NA PE2 1 +NX_Q86X67 Nucleoside diphosphate-linked moiety X motif 13 352 39688 7.11 0 Nucleoplasm NA NA NA NA Interconversion of nucleotide di- and triphosphates PE2 10 +NX_Q86X76 Deaminated glutathione amidase 327 35896 7.91 0 Cytoplasm;Mitochondrion NA Catalyzes the hydrolysis of the amide bond in N-(4-oxoglutarate)-L-cysteinylglycine (deaminated glutathione), a metabolite repair reaction to dispose of the harmful deaminated glutathione. Plays a role in cell growth and apoptosis: loss of expression promotes cell growth, resistance to DNA damage stress and increased incidence to NMBA-induced tumors. Has tumor suppressor properties that enhances the apoptotic responsiveness in cancer cells; this effect is additive to the tumor suppressor activity of FHIT. It is also a negative regulator of primary T-cells. NA Belongs to the carbon-nitrogen hydrolase superfamily. NIT1/NIT2 family. NA PE1 1 +NX_Q86X83 COMM domain-containing protein 2 199 22745 6.24 0 Cytoplasm;Nucleoplasm;Nucleus NA May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966). NA NA Neddylation PE1 3 +NX_Q86X95 Corepressor interacting with RBPJ 1 450 52313 9.88 0 Nucleus speckle;Centrosome NA May modulate splice site selection during alternative splicing of pre-mRNAs (By similarity). Regulates transcription and acts as corepressor for RBPJ. Recruits RBPJ to the Sin3-histone deacetylase complex (HDAC). Required for RBPJ-mediated repression of transcription. Phosphorylated by NEK6.;CIR1 is phosphorylated by NEK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Notch signaling pathway PE1 2 +NX_Q86XA0 Methyltransferase-like protein 23 190 21469 4.91 1 Membrane;Cytoplasm;Cytoplasmic vesicle Mental retardation, autosomal recessive 44 Probable methyltransferase. NA Belongs to the methyltransferase superfamily. METTL23 family. NA PE1 17 +NX_Q86XA9 HEAT repeat-containing protein 5A 2040 222004 6.14 0 NA NA NA NA Belongs to the HEATR5 family. NA PE1 14 +NX_Q86XD5 Protein FAM131B 332 35769 4.34 0 Nucleoplasm;Cytosol NA NA NA Belongs to the FAM131 family. Signaling by BRAF and RAF fusions PE1 7 +NX_Q86XD8 AN1-type zinc finger protein 4 727 80358 8.66 0 Golgi apparatus NA NA NA NA NA PE2 10 +NX_Q86XE0 Sorting nexin-32 403 46399 6.63 0 Cell junction;Focal adhesion NA May be involved in several stages of intracellular trafficking. NA Belongs to the sorting nexin family. NA PE1 11 +NX_Q86XE3 Calcium uptake protein 3, mitochondrial 530 60711 8.35 1 Membrane;Mitochondrion NA May play a role in mitochondrial calcium uptake. NA Belongs to the MICU1 family. MICU3 subfamily. Processing of SMDT1;Mitochondrial calcium ion transport PE1 8 +NX_Q86XE5 4-hydroxy-2-oxoglutarate aldolase, mitochondrial 327 35249 8.13 0 Mitochondrion Hyperoxaluria primary 3 Catalyzes the final step in the metabolic pathway of hydroxyproline. NA Belongs to the DapA family. Glyoxylate metabolism and glycine degradation PE1 10 +NX_Q86XF0 Dihydrofolate reductase 2, mitochondrial 187 21620 7.75 0 Mitochondrion matrix;Mitochondrion inner membrane;Mitochondrion NA Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Required to prevent uracil accumulation in mtDNA. Binds its own mRNA and that of DHFR. NA Belongs to the dihydrofolate reductase family. Cofactor biosynthesis; tetrahydrofolate biosynthesis; 5,6,7,8-tetrahydrofolate from 7,8-dihydrofolate: step 1/1.;Metabolism of folate and pterines PE1 3 +NX_Q86XF7 Zinc finger protein 575 245 26763 9.83 0 Nucleoplasm;Nucleus;Nucleolus;Cytosol NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q86XG9 Putative neuroblastoma breakpoint family member 5 351 40546 4.95 0 Cytoplasm NA NA NA Belongs to the NBPF family. NA PE5 1 +NX_Q86XH1 Dynein regulatory complex protein 11 822 95341 9.48 0 Flagellum axoneme;Nucleoplasm NA Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. NA Belongs to the AAA ATPase family. DRC11 subfamily. NA PE1 2 +NX_Q86XI2 Condensin-2 complex subunit G2 1143 130960 6.43 0 Nucleoplasm;Nucleus speckle;Nucleus NA Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis. NA NA Condensation of Prophase Chromosomes PE1 7 +NX_Q86XI6 Protein phosphatase 1 regulatory subunit 3B 285 32695 5.86 0 Cytosol NA Acts as a glycogen-targeting subunit for phosphatase PP1. Facilitates interaction of the PP1 with enzymes of the glycogen metabolism and regulates its activity. Suppresses the rate at which PP1 dephosphorylates (inactivates) glycogen phosphorylase and enhances the rate at which it activates glycogen synthase and therefore limits glycogen breakdown. Its activity is inhibited by PYGL, resulting in inhibition of the glycogen synthase and glycogen phosphorylase phosphatase activities of PP1. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in hepatocytes (By similarity). NA NA Insulin signaling pathway PE1 8 +NX_Q86XI8 Uncharacterized protein ZSWIM9 627 70073 8.92 0 Nucleoplasm NA NA NA NA NA PE1 19 +NX_Q86XJ0 Calcium homeostasis modulator protein 3 344 38496 8.98 4 Membrane;Nucleoplasm NA Pore-forming subunit of a voltage-gated ion channel. NA Belongs to the CALHM family. NA PE1 10 +NX_Q86XJ1 GAS2-like protein 3 694 75214 9.67 0 Cytoplasm;Cytoskeleton NA Cytoskeletal linker protein. May promote and stabilize the formation of the actin and microtubule network. NA Belongs to the GAS2 family. NA PE1 12 +NX_Q86XK2 F-box only protein 11 927 103585 6.53 0 Nucleoplasm;Nucleus;Chromosome Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as DTL/CDT2, BCL6 and PRDM1/BLIMP1. The SCF(FBXO11) complex mediates ubiquitination and degradation of BCL6, thereby playing a role in the germinal center B-cells terminal differentiation toward memory B-cells and plasma cells. The SCF(FBXO11) complex also mediates ubiquitination and degradation of DTL, an important step for the regulation of TGF-beta signaling, cell migration and the timing of the cell-cycle progression and exit. Binds to and neddylates phosphorylated p53/TP53, inhibiting its transcriptional activity. SCF(FBXO11) does not seem to direct ubiquitination of p53/TP53. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 2 +NX_Q86XK3 Swi5-dependent recombination DNA repair protein 1 homolog 245 28262 6.06 0 Nucleus NA Component of the SWI5-SFR1 complex, a complex required for double-strand break repair via homologous recombination (PubMed:21252223). Acts as a transcriptional modulator for ESR1 (PubMed:23874500). NA Belongs to the SFR1/MEI5 family. NA PE1 10 +NX_Q86XK7 V-set and immunoglobulin domain-containing protein 1 387 41811 4.59 1 Membrane;Cytoplasmic vesicle;Cytosol NA NA Highly N-glycosylated. Appears not to contain significant amounts of O-linked carbohydrates or sialic acid in its sugar moieties. NA NA PE1 X +NX_Q86XL3 Ankyrin repeat and LEM domain-containing protein 2 938 104114 6.66 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Cell membrane Microcephaly 16, primary, autosomal recessive Involved in mitotic nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 during mitotic exit. Coordinates the control of BAF/BANF1 dephosphorylation by inhibiting VRK1 kinase and promoting dephosphorylation of BAF/BANF1 by protein phosphatase 2A (PP2A), thereby facilitating nuclear envelope assembly. It is unclear whether it acts as a real PP2A regulatory subunit or whether it is involved in recruitment of the PP2A complex. Involved in brain development (PubMed:25259927). NA Belongs to the ANKLE2 family. Initiation of Nuclear Envelope Reformation PE1 12 +NX_Q86XM0 Cation channel sperm-associated protein subunit delta 798 90468 7.04 1 Flagellum membrane NA Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for CATSPER1 stability before intraflagellar transport and/or incorporation of the CatSper complex channel into the flagellar membrane. NA Belongs to the CATSPERD family. Sperm Motility And Taxes PE1 19 +NX_Q86XN6 Zinc finger protein 761 746 87716 9.22 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q86XN7 Proline and serine-rich protein 1 944 95698 9.06 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 13 +NX_Q86XN8 RNA-binding protein MEX3D 651 64883 5.19 0 Cytoplasm;Nucleus NA RNA binding protein, may be involved in post-transcriptional regulatory mechanisms. Phosphorylated. NA NA PE1 19 +NX_Q86XP0 Cytosolic phospholipase A2 delta 818 91952 5.33 0 Membrane;Cytosol NA Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position (PubMed:14709560). Has a preference for linoleic acid at the sn-2 position (PubMed:14709560). NA NA Lipid metabolism; fatty acid metabolism.;Fc gamma R-mediated phagocytosis;Synthesis of PA;Acyl chain remodelling of PG;Acyl chain remodelling of PC;Acyl chain remodelling of PS;Acyl chain remodelling of PE;Acyl chain remodelling of PI;Hydrolysis of LPC PE1 15 +NX_Q86XP1 Diacylglycerol kinase eta 1220 134866 6.11 0 Cytoplasm;Cell membrane NA Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA). Plays a key role in promoting cell growth. Activates the Ras/B-Raf/C-Raf/MEK/ERK signaling pathway induced by EGF. Regulates the recruitment of RAF1 and BRAF from cytoplasm to membranes and their heterodimerization. Phosphorylated; does not inhibit catalytic activity. Belongs to the eukaryotic diacylglycerol kinase family. Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Effects of PIP2 hydrolysis PE1 13 +NX_Q86XP3 ATP-dependent RNA helicase DDX42 938 102975 6.54 0 Cajal body;Cytoplasm;Nucleus speckle NA ATP-dependent RNA helicase. Binds to partially double-stranded RNAs (dsRNAs) in order to unwind RNA secondary structures. Unwinding is promoted in the presence of single-strand binding proteins. Mediates also RNA duplex formation thereby displacing the single-strand RNA binding protein. ATP and ADP modulate its activity: ATP binding and hydrolysis by DDX42 triggers RNA strand separation, whereas the ADP-bound form of the protein triggers annealing of complementary RNA strands. Involved in the survival of cells by interacting with TP53BP2 and thereby counteracting the apoptosis-stimulating activity of TP53BP2. Relocalizes TP53BP2 to the cytoplasm. NA Belongs to the DEAD box helicase family. DDX42 subfamily. Spliceosome;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway PE1 17 +NX_Q86XP6 Gastrokine-2 184 20487 7.03 0 Secreted NA NA NA NA NA PE1 2 +NX_Q86XQ3 Cation channel sperm-associated protein 3 398 46422 5.88 6 Flagellum membrane NA Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte. NA Belongs to the cation channel sperm-associated (TC 1.A.1.19) family. Sperm Motility And Taxes PE1 5 +NX_Q86XR2 Protein Niban 3 697 77413 8.99 0 Nucleoplasm;Cytosol NA NA NA Belongs to the Niban family. NA PE1 19 +NX_Q86XR5 Proline-rich membrane anchor 1 153 16689 8.83 1 Cell membrane;Cell junction;Nucleolus;Synapse;Cytosol NA Required to anchor acetylcholinesterase (ACHE) to the basal lamina of the neuromuscular junction and to the membrane of neuronal synapses in brain. Also able to organize ACHE into tetramers (By similarity). NA NA NA PE1 14 +NX_Q86XR7 TIR domain-containing adapter molecule 2 235 26916 4.99 0 Golgi apparatus;Cytoplasm;Cell membrane;Endoplasmic reticulum;Phagocytic cup;Early endosome membrane;Late endosome membrane NA Proposed to inhibit LPS-TLR4 signaling at the late endosome by interaction with isoform 1 thereby disrupting the association of isoform 1 with TICAM1. May be involved in TLR4 degradation in late endosomes.;Functions as sorting adapter in different signaling pathways to facilitate downstream signaling leading to type I interferon induction (PubMed:16603631, PubMed:16757566, PubMed:25385819, PubMed:25825441). In TLR4 signaling, physically bridges TLR4 and TICAM1 and functionally transmits signal to TICAM1 in early endosomes after endocytosis of TLR4. In TLR2 signaling, physically bridges TLR2 and MYD88 and is required for the TLR2-dependent movement of MYD88 to endosomes following ligand engagement (PubMed:25385819). Involved in IL-18 signaling and is proposed to function as a sorting adapter for MYD88 in IL-18 signaling during adaptive immune response (PubMed:22685567). Forms a complex with RAB11FIP2 that is recruited to the phagosomes to promote the activation of the actin-regulatory GTPases RAC1 and CDC42 and subsequent phagocytosis of Gram-negative bacteria (PubMed:30883606). Is myristoylated. Required for membrane association which is critical for its ability to initiate efficient signaling.;Phosphorylated by PRKCE in response to LPS. Phosphorylation is essential for its function. It is depleted from the membrane upon phosphorylation. Tyrosine phosphorylation is inhibited by phosphatase PTPN4. NA Toll-like receptor signaling pathway;Pertussis;Toll Like Receptor 4 (TLR4) Cascade;Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;Caspase activation via Death Receptors in the presence of ligand;MyD88-independent TLR4 cascade;TRIF-mediated programmed cell death;IKK complex recruitment mediated by RIP1;TRAF6-mediated induction of TAK1 complex within TLR4 complex;IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation;Neutrophil degranulation PE1 5 +NX_Q86XR8 Centrosomal protein of 57 kDa 500 57089 9.35 0 Cytoplasm;Centrosome;Cytosol;Nucleus;Cytoskeleton Mosaic variegated aneuploidy syndrome 2 Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring-like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2, but that of FGF1. NA Belongs to the translokin family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 11 +NX_Q86XS5 Angiopoietin-related protein 5 388 44144 6.14 0 Secreted NA NA NA NA NA PE1 11 +NX_Q86XS8 E3 ubiquitin-protein ligase RNF130 419 46405 9.12 1 Membrane;Cytoplasm NA May have a role during the programmed cell death of hematopoietic cells (By similarity). Acts as an E3 ubiquitin-protein ligase. In vivo measurements suggest this protein is glycosylated (PubMed:19159218). In contrast, in vitro experiments failed to detect glycosylation (PubMed:16549277). NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 5 +NX_Q86XT2 Vacuolar protein sorting-associated protein 37D 251 27730 9.2 0 Cytoplasmic vesicle;Late endosome membrane NA Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation. NA Belongs to the VPS37 family. Endocytosis;Budding and maturation of HIV virion;Membrane binding and targetting of GAG proteins;Endosomal Sorting Complex Required For Transport (ESCRT);Microautophagy PE1 7 +NX_Q86XT4 E3 ubiquitin-protein ligase TRIM50 487 54774 7.28 0 Cytoplasm NA E3 ubiquitin-protein ligase that ubiquitinates Beclin-1/BECN1 in a 'Lys-63'-dependent manner enhancing its binding to ULK1. In turn, promotes starvation-induced autophagy activation. Interacts also with p62/SQSTM1 protein and thereby induces the formation and the autophagy clearance of aggresome-associated polyubiquitinated proteins through HDAC6 interaction. Auto-ubiquitinated.;Acetylated by EP300 and KAT2B. HDAC6 drives TRIM50 deacetylation. Acetylation antagonizes with TRIM50 ubiquitination. Belongs to the TRIM/RBCC family. Antigen processing: Ubiquitination & Proteasome degradation PE1 7 +NX_Q86XT9 Insulin-like growth factor-binding protein 3 receptor 240 25724 8.81 1 Cell membrane NA Cell death receptor specific for IGFBP3, may mediate caspase-8-dependent apoptosis upon ligand binding. NA NA TP53 Regulates Transcription of Death Receptors and Ligands PE1 16 +NX_Q86XU0 Zinc finger protein 677 584 67996 9.3 0 Nucleoplasm;Centrosome;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q86XW9 Thioredoxin domain-containing protein 6 330 36856 4.82 0 Cytoplasm;Cytoskeleton NA May be a regulator of microtubule physiology. NA Belongs to the NDK family. NA PE1 3 +NX_Q86XX4 Extracellular matrix protein FRAS1 4008 443214 5.32 1 Cell membrane Fraser syndrome 1 NA NA Belongs to the FRAS1 family. NA PE1 4 +NX_Q86XZ4 Spermatogenesis-associated serine-rich protein 2 545 59545 9.01 0 Cytoplasm;Cytosol NA NA NA Belongs to the SPATS2 family. NA PE1 12 +NX_Q86Y01 E3 ubiquitin-protein ligase DTX1 620 67368 9.67 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Functions as a ubiquitin ligase protein in vivo, mediating ubiquitination and promoting degradation of MEKK1, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity (By similarity). Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Mainly acts as a positive regulator of Notch, but it also acts as a negative regulator, depending on the developmental and cell context. Mediates the antineural activity of Notch, possibly by inhibiting the transcriptional activation mediated by MATCH1. Involved in neurogenesis, lymphogenesis and myogenesis, and may also be involved in MZB (Marginal zone B) cell differentiation. Promotes B-cell development at the expense of T-cell development, suggesting that it can antagonize NOTCH1. Ubiquitinated; undergoes 'Lys-29'-linked polyubiquitination catalyzed by ITCH. Belongs to the Deltex family. Protein modification; protein ubiquitination.;Notch signaling pathway;Activated NOTCH1 Transmits Signal to the Nucleus PE1 12 +NX_Q86Y07 Serine/threonine-protein kinase VRK2 508 58141 8.97 1 Cytoplasm;Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus envelope;Mitochondrion membrane;Nucleus NA Phosphorylates 'Thr-18' of p53/TP53, as well as histone H3. Reduces p53/TP53 ubiquitination by MDM2, promotes p53/TP53 acetylation by EP300 and thereby increases p53/TP53 stability and activity.;Serine/threonine kinase that regulates several signal transduction pathways.;Modulates the stress response to hypoxia and cytokines, such as interleukin-1 beta (IL1B) and this is dependent on its interaction with MAPK8IP1, which assembles mitogen-activated protein kinase (MAPK) complexes. Inhibition of signal transmission mediated by the assembly of MAPK8IP1-MAPK complexes reduces JNK phosphorylation and JUN-dependent transcription. Phosphorylates 'Thr-18' of p53/TP53, histone H3, and may also phosphorylate MAPK8IP1. Phosphorylates BANF1 and disrupts its ability to bind DNA and reduces its binding to LEM domain-containing proteins. Downregulates the transactivation of transcription induced by ERBB2, HRAS, BRAF, and MEK1. Blocks the phosphorylation of ERK in response to ERBB2 and HRAS. Can also phosphorylate the following substrates that are commonly used to establish in vitro kinase activity: casein, MBP and histone H2B, but it is not sure that this is physiologically relevant. Are autophosphorylated.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);VRK2 is phosphorylated by PLK3 Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. VRK subfamily. Initiation of Nuclear Envelope Reformation;Nuclear Envelope Breakdown PE1 2 +NX_Q86Y13 E3 ubiquitin-protein ligase DZIP3 1208 138604 6.45 0 Cytoplasm;Cytoplasmic vesicle NA E3 Ubiquitin ligase proteins mediate ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Able to specifically bind RNA. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 3 +NX_Q86Y22 Collagen alpha-1(XXIII) chain 540 51944 6.88 1 Cell membrane NA NA Undergoes proteolytic cleavage by furin protease to yield a 60 kDa soluble form that forms a homotrimer and exhibits a low affinity interaction with heparin. NA Collagen degradation;Collagen biosynthesis and modifying enzymes;Integrin cell surface interactions;Collagen chain trimerization PE1 5 +NX_Q86Y25 Zinc finger protein 354C 554 64847 8.36 0 Cytosol;Nucleus membrane;Nucleus NA May function as a transcription repressor. Binds to 5'-CCACA-3' core sequence. Suppresses osteogenic effects of RUNX2. May be involved in osteoblastic differentiation (By similarity). Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal (By similarity). NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 5 +NX_Q86Y26 NUT family member 1 1132 120314 5.32 0 Cytoplasm;Nucleus NA Plays a role in the regulation of proliferation. Regulates TERT expression by modulating SP1 binding to TERT promoter binding sites. Phosphorylation on Ser-1026, Ser-1029 or Ser-1031 is important for cytoplasmic export.;Methylated at Gln-1046 by N6AMT1. Belongs to the NUT family. NA PE1 15 +NX_Q86Y27 B melanoma antigen 5 43 4711 4.58 0 Secreted NA Unknown. Candidate gene encoding tumor antigens. NA Belongs to the BAGE family. NA PE2 13 +NX_Q86Y28 B melanoma antigen 4 39 4230 4.25 0 Secreted NA Unknown. Candidate gene encoding tumor antigens. NA Belongs to the BAGE family. NA PE2 21 +NX_Q86Y29 B melanoma antigen 3 109 12112 8.59 0 Secreted NA Unknown. Candidate gene encoding tumor antigens. NA Belongs to the BAGE family. NA PE2 21 +NX_Q86Y30 B melanoma antigen 2 109 12114 9.02 0 Secreted NA Unknown. Candidate gene encoding tumor antigens. NA Belongs to the BAGE family. NA PE2 21 +NX_Q86Y33 Cell division cycle protein 20 homolog B 519 57335 8.76 0 NA NA NA NA Belongs to the WD repeat CDC20/Fizzy family. NA PE1 5 +NX_Q86Y34 Adhesion G protein-coupled receptor G3 549 60861 9.01 7 Cell membrane NA Orphan receptor that regulates migration of lymphatic endothelial cells in vitro via the small GTPases RhoA and CDC42 (PubMed:24178298). Regulates B-cell development (By similarity). Seems to signal through G-alpha(q)-proteins (PubMed:22575658). NA Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. Neutrophil degranulation PE1 16 +NX_Q86Y37 CDK2-associated and cullin domain-containing protein 1 369 41064 5.08 0 Nucleoplasm NA Cell cycle associated protein capable of promoting cell proliferation through the activation of CDK2 at the G1/S phase transition. NA Belongs to the cullin family. NA PE1 10 +NX_Q86Y38 Xylosyltransferase 1 959 107569 9.32 1 Endoplasmic reticulum;Secreted;Cell membrane;Golgi apparatus membrane Desbuquois dysplasia 2;Pseudoxanthoma elasticum Catalyzes the first step in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein (PubMed:15461586, PubMed:17189265, PubMed:24581741, PubMed:23982343). Required for normal embryonic and postnatal skeleton development, especially of the long bones (PubMed:24581741, PubMed:23982343). Required for normal maturation of chondrocytes during bone development, and normal onset of ossification (By similarity). N-glycosylated.;Contains 7 disulfide bonds. Belongs to the glycosyltransferase 14 family. XylT subfamily. Glycan metabolism; chondroitin sulfate biosynthesis.;Glycan metabolism; heparan sulfate biosynthesis.;Glycosaminoglycan biosynthesis - chondroitin sulfate;Glycosaminoglycan biosynthesis - heparan sulfate;Metabolic pathways;A tetrasaccharide linker sequence is required for GAG synthesis PE1 16 +NX_Q86Y39 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11 141 14852 8.95 2 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex I deficiency, nuclear type 14 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFA11 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 19 +NX_Q86Y46 Keratin, type II cytoskeletal 73 540 58923 6.93 0 NA NA Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable). NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_Q86Y56 Dynein assembly factor 5, axonemal 855 93521 5.98 0 Nucleoplasm;Cytoplasm;Cytosol;Cytoplasmic granule Ciliary dyskinesia, primary, 18 Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility. NA Belongs to the DNAAF5 family. NA PE1 7 +NX_Q86Y78 Ly6/PLAUR domain-containing protein 6 171 19118 5.69 0 Cytoplasm;Cell membrane;Synaptosome;Secreted;Cytosol;Membrane raft NA Acts as a modulator of nicotinic acetylcholine receptors (nAChRs) function in the brain. Inhibits nicotine-induced Ca(2+) influx through nAChRs (PubMed:27344019). Acts as a positive regulator of Wnt/beta-catenin signaling (By similarity). NA NA NA PE1 2 +NX_Q86Y79 Probable peptidyl-tRNA hydrolase 214 22937 10.59 0 NA NA NA NA Belongs to the PTH family. NA PE1 9 +NX_Q86Y82 Syntaxin-12 276 31642 5.45 1 Golgi apparatus;Endosome membrane;Endomembrane system;Nucleoplasm;Recycling endosome membrane;Golgi apparatus membrane;Early endosome membrane;Cytoplasmic vesicle NA SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network. The SNARE complex containing STX6, STX12, VAMP4 and VTI1A mediates vesicle fusion (in vitro) (By similarity). Through complex formation with GRIP1, GRIA2 and NSG1 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity). NA Belongs to the syntaxin family. Phagosome PE1 1 +NX_Q86Y91 Kinesin-like protein KIF18B 852 93011 8.89 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA In complex with KIF2C, constitutes the major microtubule plus-end depolymerizing activity in mitotic cells. Its major role may be to transport KIF2C and/or MAPRE1 along microtubules. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 17 +NX_Q86Y97 Histone-lysine N-methyltransferase KMT5C 462 52113 9.9 0 Nucleoplasm;Nucleus;Chromosome NA Histone methyltransferase that specifically trimethylates 'Lys-20' of histone H4. H4 'Lys-20' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. KMT5C is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar4-20 subfamily. Lysine degradation;PKMTs methylate histone lysines PE1 19 +NX_Q86YA3 Protein ZGRF1 2104 236602 5.81 1 Membrane;Cytosol NA NA NA NA NA PE1 4 +NX_Q86YB7 Enoyl-CoA hydratase domain-containing protein 2, mitochondrial 292 31126 9.03 0 Mitochondrion NA NA NA Belongs to the enoyl-CoA hydratase/isomerase family. NA PE1 1 +NX_Q86YB8 ERO1-like protein beta 467 53543 8.25 0 Endoplasmic reticulum membrane NA Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Other protein disulfide isomerase family members can also be reoxidized, but at lower rates compared to P4HB, including PDIA2 (50% of P4HB reoxidation rate), as well as PDIA3, PDIA4, PDIA6 and NXNDC12 (<10%). Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. May be involved in oxidative proinsulin folding in pancreatic cells, hence may play a role in glucose homeostasis. N-glycosylated.;The Cys-90/Cys-95 and Cys-393/Cys-396 disulfide bonds constitute the redox-active center. The Cys-90/Cys-95 disulfide bond accepts electron from P4HB and funnel them to the active site disulfide Cys-393/Cys-396. The Cys-81/Cys-390 disulfide bond may be critical for structural stability. Two long-range disulfide bonds participate in loose feedback regulation. The Cys-90/Cys-130 disulfide bond may be the predominant regulatory switch to modulate the catalytic activity, while the Cys-100/Cys-262 disulfide bond may play an auxiliary regulatory role. Belongs to the EROs family. Protein processing in endoplasmic reticulum;Insulin processing PE1 1 +NX_Q86YC2 Partner and localizer of BRCA2 1186 131295 6.03 0 Nucleoplasm;Nucleus Breast cancer;Fanconi anemia complementation group N;Pancreatic cancer 3 Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks (PubMed:16793542, PubMed:19423707, PubMed:19369211, PubMed:22941656, PubMed:24141787, PubMed:28319063). Strongly stimulates the DNA strand-invasion activity of RAD51, stabilizes the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA) (PubMed:20871615). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51 (PubMed:20871616). Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination (PubMed:19369211). Via its WD repeats is proposed to scaffold a HR complex containing RAD51C and BRCA2 which is thought to play a role in HR-mediated DNA repair (PubMed:24141787). Essential partner of BRCA2 that promotes the localization and stability of BRCA2 (PubMed:16793542). Also enables its recombinational repair and checkpoint functions of BRCA2 (PubMed:16793542). May act by promoting stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteasome-mediated degradation (PubMed:16793542). Binds DNA with high affinity for D loop, which comprises single-stranded, double-stranded and branched DNA structures (PubMed:20871616). May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with BRCA2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity (PubMed:24485656). PALB2 is phosphorylated by ATR (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Fanconi anemia pathway;HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange PE1 16 +NX_Q86YC3 Transforming growth factor beta activator LRRC33 692 76366 5.75 1 Endoplasmic reticulum membrane;Cell membrane NA Key regulator of transforming growth factor beta-1 (TGFB1) specifically required for microglia function in the nervous system (By similarity). Required for activation of latent TGF-beta-1 in macrophages and microglia: associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGFB1, and regulates integrin-dependent activation of TGF-beta-1 (By similarity). TGF-beta-1 activation mediated by LRRC33/NRROS is highly localized: there is little spreading of TGF-beta-1 activated from one microglial cell to neighboring microglia, suggesting the existence of localized and selective activation of TGF-beta-1 by LRRC33/NRROS (By similarity). Indirectly plays a role in Toll-like receptor (TLR) signaling: ability to inhibit TLR-mediated NF-kappa-B activation and cytokine production is probably a consequence of its role in TGF-beta-1 signaling (PubMed:23545260). NA Belongs to the LRRC32/LRRC33 family. NA PE1 3 +NX_Q86YD1 Prostate tumor-overexpressed gene 1 protein 416 46869 10.54 0 Nucleoplasm;Perinuclear region;Nucleus;Cell membrane NA May activate transcription. Required for nuclear translocation of FLOT1. Promotes cell proliferation. NA Belongs to the Mediator complex subunit 25 family. PTOV1 subfamily. NA PE1 19 +NX_Q86YD3 Transmembrane protein 25 366 39285 7.06 1 Golgi apparatus;Cytoplasmic vesicle;Secreted;Cell membrane NA NA NA NA NA PE1 11 +NX_Q86YD5 Low-density lipoprotein receptor class A domain-containing protein 3 345 37419 4.74 1 Cell junction;Cell membrane NA May influence APP processing, resulting in a decrease in sAPP-alpha production and increased amyloidogenic P3 peptide production. NA Belongs to the LDLR family. NA PE1 11 +NX_Q86YD7 Protein FAM90A1 464 49793 9.71 0 NA NA NA NA Belongs to the FAM90 family. NA PE1 12 +NX_Q86YE8 Zinc finger protein 573 665 78181 9.32 0 Cytosol;Nucleus;Cytoskeleton NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q86YF9 Zinc finger protein DZIP1 867 98664 5.8 0 Cytoplasm;Centriole;Centriolar satellite;Cilium basal body;Nucleoplasm;Cytosol;Nucleus NA May participate in spermatogenesis via its interaction with DAZ (PubMed:15081113). Has a role in primary cilium formation (PubMed:19852954). NA Belongs to the DZIP C2H2-type zinc-finger protein family. Hedgehog 'on' state PE1 13 +NX_Q86YG4 5'-nucleotidase domain-containing protein 4 428 48951 5.68 0 NA NA NA NA Belongs to the 5'(3')-deoxyribonucleotidase family. NA PE1 2 +NX_Q86YH2 Zinc finger protein 280B 543 61584 7.62 0 Nucleoplasm;Nucleus NA May function as a transcription factor. NA NA NA PE1 22 +NX_Q86YH6 Decaprenyl-diphosphate synthase subunit 2 399 44129 8.43 0 Cytosol;Mitochondrion Coenzyme Q10 deficiency, primary, 3 Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10. NA Belongs to the FPP/GGPP synthase family. Cofactor biosynthesis; ubiquinone biosynthesis.;Terpenoid backbone biosynthesis;Ubiquinol biosynthesis PE1 6 +NX_Q86YI8 PHD finger protein 13 300 33582 7.89 0 Nucleoplasm;Nucleus NA Modulates chromatin structure. Required for normal chromosome condensation during the early stages of mitosis. Required for normal chromosome separation during mitosis. Subject to proteasomal degradation. Stable when bound to chromatin. The soluble form is rapidly degraded. NA NA PE1 1 +NX_Q86YJ5 E3 ubiquitin-protein ligase MARCH9 346 37772 9.36 2 Lysosome membrane;Golgi apparatus membrane NA E3 ubiquitin-protein ligase that may mediate ubiquitination of MHC-I, CD4 and ICAM1, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. NA NA Protein modification; protein ubiquitination. PE1 12 +NX_Q86YJ6 Threonine synthase-like 2 484 54116 6.07 0 Secreted NA Potent inducer of osteoblastic production of IL6. May act to exacerbate inflammation and/or bone turnover under inflammatory conditions.;Acts as a catabolic phospho-lyase on both gamma- and beta-phosphorylated substrates. Degrades O-phospho-threonine (PThr) to alpha-ketobutyrate, ammonia and phosphate (By similarity). NA Belongs to the threonine synthase family. NA PE1 2 +NX_Q86YJ7 Ankyrin repeat domain-containing protein 13B 626 70205 6.47 0 Cytoplasmic vesicle;Early endosome;Late endosome;Cell membrane NA Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Does not bind 'Lys-48'-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane. NA NA NA PE1 17 +NX_Q86YL5 Testis development-related protein 185 20403 5.76 0 Cytoplasm;Cytosol;Nucleus;Cytoplasmic vesicle NA Contributes to normal sperm motility, but not essential for male fertility. NA Belongs to the TDRP family. NA PE1 8 +NX_Q86YL7 Podoplanin 162 16698 4.37 1 Filopodium membrane;Invadopodium;Apical cell membrane;Basolateral cell membrane;Microvillus membrane;Lamellipodium membrane;Membrane;Ruffle membrane;Cytoplasmic vesicle;Cytosol;Membrane raft NA Mediates effects on cell migration and adhesion through its different partners. During development plays a role in blood and lymphatic vessels separation by binding CLEC1B, triggering CLEC1B activation in platelets and leading to platelet activation and/or aggregation (PubMed:14522983, PubMed:15231832, PubMed:17616532, PubMed:18215137, PubMed:17222411). Interaction with CD9, on the contrary, attenuates platelet aggregation induced by PDPN (PubMed:18541721). Through MSN or EZR interaction promotes epithelial-mesenchymal transition (EMT) leading to ERZ phosphorylation and triggering RHOA activation leading to cell migration increase and invasiveness (PubMed:17046996, PubMed:21376833). Interaction with CD44 promotes directional cell migration in epithelial and tumor cells (PubMed:20962267). In lymph nodes (LNs), controls fibroblastic reticular cells (FRCs) adhesion to the extracellular matrix (ECM) and contraction of the actomyosin by maintaining ERM proteins (EZR; MSN and RDX) and MYL9 activation through association with unknown transmembrane proteins. Engagement of CLEC1B by PDPN promotes FRCs relaxation by blocking lateral membrane interactions leading to reduction of ERM proteins (EZR; MSN and RDX) and MYL9 activation (By similarity). Through binding with LGALS8 may participate to connection of the lymphatic endothelium to the surrounding extracellular matrix (PubMed:19268462). In keratinocytes, induces changes in cell morphology showing an elongated shape, numerous membrane protrusions, major reorganization of the actin cytoskeleton, increased motility and decreased cell adhesion (PubMed:15515019). Controls invadopodia stability and maturation leading to efficient degradation of the extracellular matrix (ECM) in tumor cells through modulation of RHOC activity in order to activate ROCK1/ROCK2 and LIMK1/LIMK2 and inactivation of CFL1 (PubMed:25486435). Required for normal lung cell proliferation and alveolus formation at birth (By similarity). Does not function as a water channel or as a regulator of aquaporin-type water channels (PubMed:9651190). Does not have any effect on folic acid or amino acid transport (By similarity). The N-terminus is blocked.;Cleaved by a metalloprotease within its extracellular (EC) domain, generating a membrane-bound C-terminal fragment (PCTF33) and an extracellular fragment. The resulting membrane-bound C-terminal fragment (PCTF33) is further processed between Val-150 and Val-151 by PSEN1/gamma-secretase generating the intracellular domain of podoplanin (PICD).;Extensively O-glycosylated. Contains sialic acid residues. O-glycosylation is necessary for platelet aggregation activity. Disialylated at Thr-52; sialic acid is critical for platelet-aggregating activity and for CLEC1B interaction (PubMed:17222411, PubMed:25458834). Belongs to the podoplanin family. GPVI-mediated activation cascade PE1 1 +NX_Q86YM7 Homer protein homolog 1 354 40277 5.33 0 Cytoplasm;Dendritic spine;Postsynaptic density;Synapse;Cytosol NA Regulates the trafficking and surface expression of GRM5.;Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2.;May be involved in the structural changes that occur at synapses during long-lasting neuronal plasticity and development. Forms a high-order complex with SHANK1, which in turn is necessary for the structural and functional integrity of dendritic spines (By similarity). Negatively regulates T cell activation by inhibiting the calcineurin-NFAT pathway. Acts by competing with calcineurin/PPP3CA for NFAT protein binding, hence preventing NFAT activation by PPP3CA (PubMed:18218901).;Acts as a natural dominant negative, in dynamic competition with constitutively expressed isoform 1 to regulate synaptic metabotropic glutamate function. NA Belongs to the Homer family. Glutamatergic synapse;Neurexins and neuroligins PE1 5 +NX_Q86YN1 Dolichyldiphosphatase 1 238 27031 9.48 4 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cytoskeleton NA Required for efficient N-glycosylation. Necessary for maintaining optimal levels of dolichol-linked oligosaccharides. Hydrolyzes dolichyl pyrophosphate at a very high rate and dolichyl monophosphate at a much lower rate. Does not act on phosphatidate (By similarity). NA Belongs to the dolichyldiphosphatase family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Synthesis of Dolichyl-phosphate PE1 9 +NX_Q86YN6 Peroxisome proliferator-activated receptor gamma coactivator 1-beta 1023 113222 4.94 0 Nucleoplasm;Nucleus NA Plays a role of stimulator of transcription factors and nuclear receptors activities. Activates transcriptional activity of estrogen receptor alpha, nuclear respiratory factor 1 (NRF1) and glucocorticoid receptor in the presence of glucocorticoids. May play a role in constitutive non-adrenergic-mediated mitochondrial biogenesis as suggested by increased basal oxygen consumption and mitochondrial number when overexpressed. May be involved in fat oxidation and non-oxidative glucose metabolism and in the regulation of energy expenditure. Induces the expression of PERM1 in the skeletal muscle in an ESRRA-dependent manner. PPARGC1B is phosphorylated by SRPK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA PPARA activates gene expression;Transcriptional activation of mitochondrial biogenesis;Regulation of RUNX2 expression and activity PE1 5 +NX_Q86YP4 Transcriptional repressor p66-alpha 633 68063 9.95 0 Nucleoplasm;Nucleus speckle NA Transcriptional repressor. Enhances MBD2-mediated repression. Efficient repression requires the presence of GATAD2B. NA NA RNA Polymerase I Transcription Initiation;HDACs deacetylate histones;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Regulation of TP53 Activity through Acetylation;Regulation of PTEN gene transcription PE1 19 +NX_Q86YQ2 Putative BPIFA4P protein 179 19456 5.33 0 Secreted NA Major protein in sweat, has surfactant properties. NA Belongs to the BPI/LBP/Plunc superfamily. Plunc family. NA PE5 20 +NX_Q86YQ8 Copine-8 564 63108 5.66 0 NA NA Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes. NA Belongs to the copine family. NA PE1 12 +NX_Q86YR5 G-protein-signaling modulator 1 675 74510 6.1 0 Golgi apparatus;Endoplasmic reticulum membrane;Cell membrane;Nucleoplasm;Golgi apparatus membrane;Cytosol NA Guanine nucleotide dissociation inhibitor (GDI) which functions as a receptor-independent activator of heterotrimeric G-protein signaling. Keeps G(i/o) alpha subunit in its GDP-bound form thus uncoupling heterotrimeric G-proteins signaling from G protein-coupled receptors. Controls spindle orientation and asymmetric cell fate of cerebral cortical progenitors. May also be involved in macroautophagy in intestinal cells. May play a role in drug addiction. Phosphorylation regulates interaction with G(i/o) alpha. Belongs to the GPSM family. G alpha (i) signalling events PE1 9 +NX_Q86YR6 POTE ankyrin domain family member D 584 66394 6.32 0 Cell membrane NA NA NA Belongs to the POTE family. NA PE1 21 +NX_Q86YR7 Probable guanine nucleotide exchange factor MCF2L2 1114 126993 6 0 Cytosol;Cell membrane Diabetes mellitus, non-insulin-dependent Probably functions as a guanine nucleotide exchange factor. NA Belongs to the MCF2 family. NA PE1 3 +NX_Q86YS3 Rab11 family-interacting protein 4 637 71928 4.78 0 Cleavage furrow;Endosome;Centrosome;Recycling endosome membrane;Cytoplasmic vesicle;Spindle;Midbody NA Acts as a regulator of endocytic traffic by participating in membrane delivery. Required for the abcission step in cytokinesis, possibly by acting as an 'address tag' delivering recycling endosome membranes to the cleavage furrow during late cytokinesis. In case of infection by HCMV (human cytomegalovirus), may participate in egress of the virus out of nucleus; this function is independent of ARF6. NA NA Endocytosis PE1 17 +NX_Q86YS6 Ras-related protein Rab-43 212 23339 5.44 0 trans-Golgi network;Golgi apparatus;Cell membrane;Phagosome membrane;trans-Golgi network membrane;Phagosome NA The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. The low intrinsic GTPase activity of RAB43 is activated by USP6NL. Involved in retrograde transport from the endocytic pathway to the Golgi apparatus. Involved in the transport of Shiga toxin from early and recycling endosomes to the trans-Golgi network. Required for the structural integrity of the Golgi complex. Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. NA Belongs to the small GTPase superfamily. Rab family. Retrograde transport at the Trans-Golgi-Network;RAB geranylgeranylation PE1 3 +NX_Q86YS7 C2 domain-containing protein 5 1000 110447 5.47 0 Cell cortex;Cell membrane;Centriolar satellite;Cytoplasmic vesicle membrane;Ruffle;Cytosol NA Required for insulin-stimulated glucose transport and glucose transporter SLC2A4/GLUT4 translocation from intracellular glucose storage vesicle (GSV) to the plasma membrane (PM) in adipocytes. Binds phospholipid membranes in a calcium-dependent manner and is necessary for the optimal membrane fusion between SLC2A4/GLUT4 GSV and the PM. Phosphorylated on Ser-197 by active myristoylated kinase AKT2; insulin-stimulated phosphorylation by AKT2 regulates SLC2A4/GLUT4 translocation into the plasma membrane. NA Translocation of SLC2A4 (GLUT4) to the plasma membrane PE1 12 +NX_Q86YT5 Solute carrier family 13 member 5 568 63062 8.52 12 Membrane;Nucleoplasm;Cytosol;Cell membrane Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta High-affinity sodium/citrate cotransporter that mediates citrate entry into cells. The transport process is electrogenic; it is the trivalent form of citrate rather than the divalent form that is recognized as a substrate. May facilitate the utilization of circulating citrate for the generation of metabolic energy and for the synthesis of fatty acids and cholesterol. NA Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily. Sodium-coupled sulphate, di- and tri-carboxylate transporters PE1 17 +NX_Q86YT6 E3 ubiquitin-protein ligase MIB1 1006 110136 6.47 0 Cytoplasmic vesicle;Cytoplasm;Centriolar satellite;Cell membrane Left ventricular non-compaction 7 E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors. Probably mediates ubiquitination and subsequent proteasomal degradation of DAPK1, thereby antagonizing anti-apoptotic effects of DAPK1 to promote TNF-induced apoptosis (By similarity). Involved in ubiquitination of centriolar satellite CEP131, CEP290 and PCM1 proteins and hence inhibits primary cilium formation in proliferating cells. Mediates 'Lys-63'-linked polyubiquitination of TBK1, which probably participates in kinase activation. Ubiquitinated; possibly via autoubiquitination (By similarity). Ubiquitinated; this modification is inhibited in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock. NA Protein modification; protein ubiquitination.;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activated NOTCH1 Transmits Signal to the Nucleus;Constitutive Signaling by NOTCH1 HD Domain Mutants;NOTCH2 Activation and Transmission of Signal to the Nucleus;NOTCH3 Activation and Transmission of Signal to the Nucleus PE1 18 +NX_Q86YT9 Junctional adhesion molecule-like 394 44339 6.68 1 Cell junction;Cell membrane NA Transmembrane protein of the plasma membrane of leukocytes that control their migration and activation through interaction with CXADR, a plasma membrane receptor found on adjacent epithelial and endothelial cells. The interaction between both receptors mediates the activation of gamma-delta T-cells, a subpopulation of T-cells residing in epithelia and involved in tissue homeostasis and repair. Upon epithelial CXADR-binding, JAML induces downstream cell signaling events in gamma-delta T-cells through PI3-kinase and MAP kinases. It results in proliferation and production of cytokines and growth factors by T-cells that in turn stimulate epithelial tissues repair. It also controls the transmigration of leukocytes within epithelial and endothelial tissues through adhesive interactions with epithelial and endothelial CXADR. NA Belongs to the immunoglobulin superfamily. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Cell surface interactions at the vascular wall PE1 11 +NX_Q86YV0 RAS protein activator like-3 1011 111898 9.03 0 Cytoplasm;Nucleoplasm;Cell cortex;Cell membrane NA Functions as a Ras GTPase-activating protein. Plays an important role in the expansion and functions of natural killer T (NKT) cells in the liver by negatively regulating RAS activity and the down-stream ERK signaling pathway. NA NA Regulation of RAS by GAPs;Signaling by RAS mutants PE1 19 +NX_Q86YV5 Inactive tyrosine-protein kinase PRAG1 1406 149624 6.83 0 Cytoplasm;Focal adhesion;Nucleus NA Catalytically inactive protein kinase that acts as a scaffold protein. Functions as an effector of the small GTPase RND2, which stimulates RhoA activity and inhibits NGF-induced neurite outgrowth (By similarity). Promotes Src family kinase (SFK) signaling by regulating the subcellular localization of CSK, a negative regulator of these kinases, leading to the regulation of cell morphology and motility by a CSK-dependent mechanism (By similarity). Acts as a critical coactivator of Notch signaling (By similarity). Phosphorylated by CSK on Tyr-253, Tyr-365, and Tyr-413; Tyr-413 is a primary site of phosphorylation. Belongs to the protein kinase superfamily. NA PE1 8 +NX_Q86YV6 Myosin light chain kinase family member 4 388 44508 5.89 0 Golgi apparatus;Nucleolus;Cytoplasmic vesicle NA NA NA Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. NA PE1 6 +NX_Q86YV9 Hermansky-Pudlak syndrome 6 protein 775 82975 5.92 0 Early endosome membrane;Microsome membrane;Cytosol;Lysosome membrane Hermansky-Pudlak syndrome 6 May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules (PubMed:17041891). Acts as cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and functioning (PubMed:25189619). NA NA NA PE1 10 +NX_Q86YW0 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 608 70411 9.14 0 Perinuclear region;Nucleus Spermatogenic failure 17 The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. In vitro, hydrolyzes PtdIns(4,5)P2 in a Ca(2+)-dependent manner. Triggers intracellular Ca(2+) oscillations in oocytes solely during M phase and is involved in inducing oocyte activation and initiating embryonic development up to the blastocyst stage. Is therefore a strong candidate for the egg-activating soluble sperm factor that is transferred from the sperm into the egg cytoplasm following gamete membrane fusion. May exert an inhibitory effect on phospholipase-C-coupled processes that depend on calcium ions and protein kinase C, including CFTR trafficking and function. NA NA Inositol phosphate metabolism;Metabolic pathways;Calcium signaling pathway;Phosphatidylinositol signaling system;Oocyte meiosis;Synthesis of IP3 and IP4 in the cytosol PE1 12 +NX_Q86YW5 Trem-like transcript 1 protein 311 32679 5.7 1 Cytoplasm;Cell membrane NA Cell surface receptor that may play a role in the innate and adaptive immune response. Phosphorylated on tyrosine residues. NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 6 +NX_Q86YW7 Glycoprotein hormone beta-5 130 14232 8 0 Secreted NA Functions as a heterodimeric glycoprotein hormone with GPHA2 able to bind and activate the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production. Plays a central role in controlling thyroid cell metabolism. N-glycosylated. Belongs to the glycoprotein hormones subunit beta family. G alpha (s) signalling events;Hormone ligand-binding receptors PE1 14 +NX_Q86YW9 Mediator of RNA polymerase II transcription subunit 12-like protein 2145 240120 7.97 0 Nucleolus;Nucleus NA May be a component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (By similarity). NA Belongs to the Mediator complex subunit 12 family. NA PE1 3 +NX_Q86YZ3 Hornerin 2850 282390 10.05 0 Cytoplasmic granule;Mitochondrion NA Component of the epidermal cornified cell envelopes. Processed during the process of epidermal differentiation.;Forms covalent cross-links mediated by transglutaminase TGM3, between glutamine and the epsilon-amino group of lysine residues (in vitro). In the N-terminal section; belongs to the S-100 family.;Belongs to the S100-fused protein family. Neutrophil degranulation PE1 1 +NX_Q86Z02 Homeodomain-interacting protein kinase 1 1210 130843 8.48 0 Cytoplasm;Nucleus speckle;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Serine/threonine-protein kinase involved in transcription regulation and TNF-mediated cellular apoptosis. Plays a role as a corepressor for homeodomain transcription factors. Phosphorylates DAXX and MYB. Phosphorylates DAXX in response to stress, and mediates its translocation from the nucleus to the cytoplasm. Inactivates MYB transcription factor activity by phosphorylation. Prevents MAP3K5-JNK activation in the absence of TNF. TNF triggers its translocation to the cytoplasm in response to stress stimuli, thus activating nuclear MAP3K5-JNK by derepression and promoting apoptosis. May be involved in anti-oxidative stress responses. Involved in the regulation of eye size, lens formation and retinal lamination during late embryogenesis. Promotes angiogenesis and to be involved in erythroid differentiation. May be involved in malignant squamous cell tumor formation. Phosphorylates PAGE4 at 'Thr-51' which is critical for the ability of PAGE4 to potentiate the transcriptional activator activity of JUN (PubMed:24559171). Degraded by PARK7 at the protein level.;Autophosphorylated. Phosphorylated and activated by JNK1.;Sumoylated. When conjugated it is directed to nuclear speckles. SENP1-mediated desumoylation is mediated by TNF in response to stress stimuli, triggering transient translocation from nucleus to cytoplasm.;HIPK1 is phosphorylated by MAPK8 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. HIPK subfamily. YAP1- and WWTR1 (TAZ)-stimulated gene expression;Physiological factors;Regulation of TP53 Activity through Phosphorylation PE1 1 +NX_Q86Z14 Beta-klotho 1044 119808 9.28 1 Cell membrane NA Contributes to the transcriptional repression of cholesterol 7-alpha-hydroxylase (CYP7A1), the rate-limiting enzyme in bile acid synthesis. Probably inactive as a glycosidase. Increases the ability of FGFR1 and FGFR4 to bind FGF21 (By similarity). NA Belongs to the glycosyl hydrolase 1 family. Klotho subfamily. RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade, FGFR4;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;PI-3K cascade:FGFR4;Negative regulation of FGFR4 signaling;betaKlotho-mediated ligand binding;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 4 +NX_Q86Z20 Coiled-coil domain-containing protein 125 511 58629 6.86 0 Cytoplasm;Nucleoplasm;Nucleus membrane;Cytoskeleton NA May be involved in the regulation of cell migration. NA NA NA PE1 5 +NX_Q86Z23 Complement C1q-like protein 4 238 24909 8.41 0 Secreted NA May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity). May inhibit adipocyte differentiation at an early stage of the process (By similarity). NA NA NA PE1 12 +NX_Q8HWS3 DNA-binding protein RFX6 928 102461 6.11 0 Nucleus Mitchell-Riley syndrome Transcription factor required to direct islet cell differentiation during endocrine pancreas development. Specifically required for the differentiation of 4 of the 5 islet cell types and for the production of insulin (PubMed:20148032, PubMed:25497100). Not required for pancreatic PP (polypeptide-producing) cells differentiation. Acts downstream of NEUROG3 and regulates the transcription factors involved in beta-cell maturation and function, thereby restricting the expression of the beta-cell differentiation and specification genes, and thus the beta-cell fate choice. Activates transcription by forming a heterodimer with RFX3 and binding to the X-box in the promoter of target genes (PubMed:20148032). Involved in glucose-stimulated insulin secretion by promoting insulin and L-type calcium channel gene transcription (PubMed:25497100). NA Belongs to the RFX family. Regulation of gene expression in beta cells PE1 6 +NX_Q8IU53 Protein CASC2, isoforms 1/2 76 8607 10.35 0 NA NA NA NA NA NA PE4 10 +NX_Q8IU54 Interferon lambda-1 200 21898 9.08 0 Secreted NA Cytokine with antiviral, antitumour and immunomodulatory activities. Plays a critical role in the antiviral host defense, predominantly in the epithelial tissues. Acts as a ligand for the heterodimeric class II cytokine receptor composed of IL10RB and IFNLR1, and receptor engagement leads to the activation of the JAK/STAT signaling pathway resulting in the expression of IFN-stimulated genes (ISG), which mediate the antiviral state. Has a restricted receptor distribution and therefore restricted targets: is primarily active in epithelial cells and this cell type-selective action is because of the epithelial cell-specific expression of its receptor IFNLR1. Exerts an immunomodulatory effect by up-regulating MHC class I antigen expression. NA Belongs to the lambda interferon family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-20 family signaling;Other interleukin signaling PE1 19 +NX_Q8IU57 Interferon lambda receptor 1 520 57653 4.89 1 Membrane;Cytosol NA The IFNLR1/IL10RB dimer is a receptor for the cytokine ligands IFNL2 and IFNL3 and mediates their antiviral activity. The ligand/receptor complex stimulate the activation of the JAK/STAT signaling pathway leading to the expression of IFN-stimulated genes (ISG), which contribute to the antiviral state. Determines the cell type specificity of the lambda interferon action. Shows a more restricted pattern of expression in the epithelial tissues thereby limiting responses to lambda interferons primarily to epithelial cells of the respiratory, gastrointestinal, and reproductive tracts. Seems not to be essential for early virus-activated host defense in vaginal infection, but plays an important role in Toll-like receptor (TLR)-induced antiviral defense. Plays a significant role in the antiviral immune defense in the intestinal epithelium. NA Belongs to the type II cytokine receptor family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-20 family signaling;Other interleukin signaling PE1 1 +NX_Q8IU60 m7GpppN-mRNA hydrolase 420 48423 8.21 0 Cell junction;Nucleoplasm;P-body;Cytosol;Nucleus NA Decapping metalloenzyme that catalyzes the cleavage of the cap structure on mRNAs (PubMed:12417715, PubMed:12218187, PubMed:12923261, PubMed:21070968, PubMed:28002401). Removes the 7-methyl guanine cap structure from mRNA molecules, yielding a 5'-phosphorylated mRNA fragment and 7m-GDP (PubMed:12486012, PubMed:12923261, PubMed:21070968, PubMed:28002401). Necessary for the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay (PubMed:14527413). Plays a role in replication-dependent histone mRNA degradation (PubMed:18172165). Has higher activity towards mRNAs that lack a poly(A) tail (PubMed:21070968). Has no activity towards a cap structure lacking an RNA moiety (PubMed:21070968). The presence of a N(6)-methyladenosine methylation at the second transcribed position of mRNAs (N(6),2'-O-dimethyladenosine cap; m6A(m)) provides resistance to DCP2-mediated decapping (PubMed:28002401). Blocks autophagy in nutrient-rich conditions by repressing the expression of ATG-related genes through degradation of their transcripts (PubMed:26098573). Phosphorylated at ser-249 in a MTOR-dependent manner (PubMed:26098573). Belongs to the Nudix hydrolase family. DCP2 subfamily. RNA degradation;ATF4 activates genes in response to endoplasmic reticulum stress;mRNA decay by 5' to 3' exoribonuclease;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA;KSRP (KHSRP) binds and destabilizes mRNA PE1 5 +NX_Q8IU68 Transmembrane channel-like protein 8 726 81641 9.49 8 Golgi apparatus;Endoplasmic reticulum membrane Epidermodysplasia verruciformis 2 Probable ion channel. NA Belongs to the TMC family. NA PE1 17 +NX_Q8IU80 Transmembrane protease serine 6 811 90000 6.25 1 Cell membrane Iron-refractory iron deficiency anemia Serine protease which hydrolyzes a range of proteins including type I collagen, fibronectin and fibrinogen. Can also activate urokinase-type plasminogen activator with low efficiency. May play a specialized role in matrix remodeling processes in liver. Through the cleavage of HJV, a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP, plays a role in iron homeostasis. The single-chain zymogen undergoes autoproteolytic processing. This results in TMPRSS6 shedding from the cell surface and conversion into an activated two-chains form which is released extracellularly. The process involves a trans-activation mechanism that requires TMPRSS6 oligomerization. Belongs to the peptidase S1 family. Degradation of the extracellular matrix;Collagen degradation PE1 22 +NX_Q8IU81 Interferon regulatory factor 2-binding protein 1 584 61688 8.52 0 Nucleoplasm;Nucleus NA Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities. May act as an E3 ligase towards JDP2, enhancing its polyubiquitination. Represses ATF2-dependent transcriptional activation. NA Belongs to the IRF2BP family. NA PE1 19 +NX_Q8IU85 Calcium/calmodulin-dependent protein kinase type 1D 385 42914 6.77 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK1 signaling cascade and, upon calcium influx, activates CREB-dependent gene transcription, regulates calcium-mediated granulocyte function and respiratory burst and promotes basal dendritic growth of hippocampal neurons. In neutrophil cells, required for cytokine-induced proliferative responses and activation of the respiratory burst. Activates the transcription factor CREB1 in hippocampal neuron nuclei. May play a role in apoptosis of erythroleukemia cells. In vitro, phosphorylates transcription factor CREM isoform Beta. NA Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. NA PE1 10 +NX_Q8IU89 Ceramide synthase 3 383 46316 7.63 6 Nucleoplasm;Endoplasmic reticulum membrane Ichthyosis, congenital, autosomal recessive 9 Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward very-long (C22:0-C24:0) and ultra long chain (more than C26:0) as acyl donor (PubMed:17977534, PubMed:22038835, PubMed:26887952). It is crucial for the synthesis of ultra long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal. Differentiation (PubMed:23754960). NA NA Lipid metabolism; sphingolipid metabolism.;Sphingolipid de novo biosynthesis PE1 15 +NX_Q8IU99 Calcium homeostasis modulator protein 1 346 38264 8.53 4 Endoplasmic reticulum membrane;Cell membrane NA Pore-forming subunit of a voltage-gated ion channel required for sensory perception of sweet, bitter and umami tastes. Specifically present in type II taste bud cells, where it plays a central role in sweet, bitter and umami taste perception by inducing ATP release from the cell, ATP acting as a neurotransmitter to activate afferent neural gustatory pathways. Acts both as a voltage-gated and calcium-activated ion channel: mediates neuronal excitability in response to changes in extracellular Ca(2+) concentration. Has poor ion selectivity and forms a wide pore (around 14 Angstroms) that mediates permeation of Ca(2+), Na(+) and K(+), as well as permeation of monovalent anions. Acts as an activator of the ERK1 and ERK2 cascade. Triggers endoplasmic reticulum stress by reducing the calcium content of the endoplasmic reticulum. May indirectly control amyloid precursor protein (APP) proteolysis and aggregated amyloid-beta (Abeta) peptides levels in a Ca(2+) dependent manner. NA Belongs to the CALHM family. NA PE1 10 +NX_Q8IUA0 WAP four-disulfide core domain protein 8 241 27824 8.43 0 Secreted NA NA NA NA NA PE1 20 +NX_Q8IUA7 ATP-binding cassette sub-family A member 9 1624 184362 6.49 14 Membrane;Endoplasmic reticulum NA May play a role in monocyte differentiation and lipid homeostasis. NA Belongs to the ABC transporter superfamily. ABCA family. ABC transporters;ABC transporters in lipid homeostasis PE1 17 +NX_Q8IUB2 WAP four-disulfide core domain protein 3 231 24687 7.58 0 Secreted NA NA NA NA NA PE2 20 +NX_Q8IUB3 Protein WFDC10B 73 8325 8.82 0 Secreted NA NA NA NA NA PE2 20 +NX_Q8IUB5 WAP four-disulfide core domain protein 13 93 10386 8.41 0 Secreted NA Putative acid-stable proteinase inhibitor. NA NA NA PE2 20 +NX_Q8IUB9 Keratin-associated protein 19-1 90 9008 8.45 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 19 family. Keratinization PE2 21 +NX_Q8IUC0 Keratin-associated protein 13-1 172 18320 8.54 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the PMG family. Keratinization PE1 21 +NX_Q8IUC1 Keratin-associated protein 11-1 163 17085 8.32 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the PMG family. Keratinization PE1 21 +NX_Q8IUC2 Keratin-associated protein 8-1 63 6826 7.6 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 8 family. Keratinization PE1 21 +NX_Q8IUC3 Keratin-associated protein 7-1 87 9288 8.57 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 7 family. NA PE1 21 +NX_Q8IUC4 Rhophilin-2 686 76993 6.35 0 Perinuclear region NA Binds specifically to GTP-Rho. May function in a Rho pathway to limit stress fiber formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity. NA Belongs to the RHPN family. RHO GTPases Activate Rhotekin and Rhophilins PE1 19 +NX_Q8IUC6 TIR domain-containing adapter molecule 1 712 76422 5.24 0 Mitochondrion;Cell membrane;Nucleolus;Nucleoplasm;Autophagosome;Cytosol Encephalopathy, acute, infection-induced, Herpes-specific, 6 Involved in innate immunity against invading pathogens. Adapter used by TLR3, TLR4 (through TICAM2) and TLR5 to mediate NF-kappa-B and interferon-regulatory factor (IRF) activation, and to induce apoptosis (PubMed:12471095, PubMed:12539043, PubMed:14739303). Ligand binding to these receptors results in TRIF recruitment through its TIR domain (PubMed:12471095, PubMed:12539043, PubMed:14739303). Distinct protein-interaction motifs allow recruitment of the effector proteins TBK1, TRAF6 and RIPK1, which in turn, lead to the activation of transcription factors IRF3 and IRF7, NF-kappa-B and FADD respectively (PubMed:12471095, PubMed:12539043, PubMed:14739303). Phosphorylation by TBK1 on the pLxIS motif leads to recruitment and subsequent activation of the transcription factor IRF3 to induce expression of type I interferon and exert a potent immunity against invading pathogens (PubMed:25636800). Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of proinflammatory cytokines (By similarity). (Microbial infection) Cleaved by Seneca Valley virus protease 3C allowing the virus to disrupt host TLR3 signaling.;(Microbial infection) Cleaved and degraded by hepatitis A virus (HAV) protein 3CD allowing the virus to disrupt host TLR3 signaling.;Phosphorylated by TBK1 (PubMed:14530355, PubMed:25636800). Following activation, phosphorylated by TBK1 at Ser-210 in the pLxIS motif (PubMed:25636800). The phosphorylated pLxIS motif constitutes an IRF3-binding motif, leading to recruitment of the transcription factor IRF3 to induce type-I interferons and other cytokines (PubMed:25636800, PubMed:27302953).;Polyubiquitinated by TRIM38 with 'Lys-48'-linked chains, leading to proteasomal degradation. NA Toll-like receptor signaling pathway;Pertussis;Chagas disease (American trypanosomiasis);Hepatitis C;Influenza A;Herpes simplex infection;RIP-mediated NFkB activation via ZBP1;Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;Caspase activation via Death Receptors in the presence of ligand;MyD88-independent TLR4 cascade;TRIF-mediated programmed cell death;TICAM1 deficiency - HSE;TRAF3 deficiency - HSE;IKK complex recruitment mediated by RIP1;TRAF6-mediated induction of TAK1 complex within TLR4 complex;Toll Like Receptor 3 (TLR3) Cascade;IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation;TICAM1, RIP1-mediated IKK complex recruitment;TICAM1-dependent activation of IRF3/IRF7;TICAM1,TRAF6-dependent induction of TAK1 complex;TLR3-mediated TICAM1-dependent programmed cell death PE1 19 +NX_Q8IUC8 Polypeptide N-acetylgalactosaminyltransferase 13 556 64051 6.41 1 Golgi apparatus membrane NA Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a much stronger activity than GALNT1 to transfer GalNAc to mucin peptides, such as Muc5Ac and Muc7. Able to glycosylate SDC3. May be responsible for the synthesis of Tn antigen in neuronal cells. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 2 +NX_Q8IUD2 ELKS/Rab6-interacting/CAST family member 1 1116 128086 5.72 0 Cytoplasm;Presynaptic cell membrane;Cell membrane;Membrane;Centrosome;Golgi apparatus membrane;Cytoplasmic vesicle;Cytosol NA Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport. NA NA NA PE1 12 +NX_Q8IUD6 E3 ubiquitin-protein ligase RNF135 432 47888 6.37 0 Cytoplasm;Cytoplasmic vesicle NA Acts as an E2-dependent E3 ubiquitin-protein ligase, involved in innate immune defense against viruses. Ubiquitinates DDX58 and is required for full activation of the DDX58 signaling resulting in interferon beta production. NA NA Protein modification; protein ubiquitination.;TRAF6 mediated IRF7 activation;TRAF6 mediated NF-kB activation;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Negative regulators of DDX58/IFIH1 signaling;TRAF3-dependent IRF activation pathway;NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10;Ovarian tumor domain proteases PE1 17 +NX_Q8IUE0 Homeobox protein TGIF2LY 185 20814 9.84 0 Nucleus NA May have a transcription role in testis. May act as a competitor/regulator of TGIF2LX. NA Belongs to the TALE/TGIF homeobox family. NA PE1 Y +NX_Q8IUE1 Homeobox protein TGIF2LX 241 26675 9.13 0 Nucleoplasm;Nucleus NA May have a transcription role in testis. NA Belongs to the TALE/TGIF homeobox family. NA PE1 X +NX_Q8IUE6 Histone H2A type 2-B 130 13995 10.88 0 Nucleoplasm;Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.;Deiminated on Arg-4 in granulocytes upon calcium entry.;Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239).;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of 'Lys-27' of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and 'Lys-63'-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend 'Lys-63'-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). H2AK119Ub and ionizing radiation-induced 'Lys-63'-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events.;Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription. Belongs to the histone H2A family. Systemic lupus erythematosus;RMTs methylate histone arginines;HATs acetylate histones;HDACs deacetylate histones;UCH proteinases;Ub-specific processing proteases;Metalloprotease DUBs PE1 1 +NX_Q8IUF1 COBW domain-containing protein 2 395 44034 4.79 0 NA NA NA NA Belongs to the SIMIBI class G3E GTPase family. CobW subfamily. NA PE1 2 +NX_Q8IUF8 Ribosomal oxygenase 2 465 52800 6.23 0 Nucleoplasm;Nucleus;Nucleolus NA Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase. Is involved in the demethylation of trimethylated 'Lys-9' on histone H3 (H3K9me3), leading to an increase in ribosomal RNA expression. Also catalyzes the hydroxylation of 60S ribosomal protein L27a on 'His-39'. May play an important role in cell growth and survival. May be involved in ribosome biogenesis, most likely during the assembly process of pre-ribosomal particles. NA Belongs to the ROX family. MINA53 subfamily. HDMs demethylate histones PE1 3 +NX_Q8IUG1 Keratin-associated protein 1-3 177 18184 5.53 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 1 family. Keratinization PE2 17 +NX_Q8IUG5 Unconventional myosin-XVIIIb 2567 285215 6.45 0 Cytoplasm;Sarcomere;Nucleoplasm;Centrosome;Nucleus Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism May be involved in intracellular trafficking of the muscle cell when in the cytoplasm, whereas entering the nucleus, may be involved in the regulation of muscle specific genes. May play a role in the control of tumor development and progression; restored MYO18B expression in lung cancer cells suppresses anchorage-independent growth. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. NA PE1 22 +NX_Q8IUH2 Protein CREG2 290 32109 9.18 0 Secreted NA NA It is not sure whether N-glycosylation is on Asn-165 and/or Asn-166. Belongs to the CREG family. NA PE1 2 +NX_Q8IUH3 RNA-binding protein 45 476 53502 6.74 0 Nucleoplasm;Cytoplasm;Nucleus NA RNA-binding protein with binding specificity for poly(C). May play an important role in neural development. NA NA NA PE1 2 +NX_Q8IUH4 Palmitoyltransferase ZDHHC13 622 70861 8.39 6 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Golgi apparatus membrane NA Palmitoyltransferase for HTT and GAD2. May play a role in Mg(2+) transport. NA Belongs to the DHHC palmitoyltransferase family. AKR/ZDHHC17 subfamily. NA PE1 11 +NX_Q8IUH5 Palmitoyltransferase ZDHHC17 632 72640 7.29 6 Golgi apparatus;Presynaptic cell membrane;Cytoplasmic vesicle membrane;Golgi apparatus membrane;Cytoplasmic vesicle NA Palmitoyltransferase specific for a subset of neuronal proteins, including SNAP25, DLG4/PSD95, GAD2, SYT1 and HTT (PubMed:15603740, PubMed:15489887, PubMed:19139280, PubMed:28757145). May be involved in the sorting or targeting of critical proteins involved in the initiating events of endocytosis at the plasma membrane (PubMed:12393793). May play a role in Mg(2+) transport (PubMed:18794299). Autopalmitoylated (PubMed:15603740, PubMed:18794299). Autopalmitoylation has a regulatory role in ZDHHC17-mediated Mg(2+) transport (PubMed:18794299). Belongs to the DHHC palmitoyltransferase family. AKR/ZDHHC17 subfamily. NA PE1 12 +NX_Q8IUH8 Signal peptide peptidase-like 2C 684 74503 6.28 9 Membrane;Endoplasmic reticulum membrane NA Intramembrane-cleaving aspartic protease (I-CLiP) that may be able to cleave type II membrane signal peptides in the hydrophobic plane of the membrane. Glycosylated. Belongs to the peptidase A22B family. NA PE1 17 +NX_Q8IUI4 Putative protein SNX29P2 249 27226 4.8 0 NA NA NA NA Belongs to the sorting nexin family. NA PE5 16 +NX_Q8IUI8 Cytokine receptor-like factor 3 442 49766 5.01 0 Cytoplasm;Cytosol;Cell membrane NA May play a role in the negative regulation of cell cycle progression. NA Belongs to the cytokine receptor-like factor 3 family. NA PE1 17 +NX_Q8IUK5 Plexin domain-containing protein 1 500 55760 5.49 1 Cytoplasm;Tight junction;Secreted;Cell membrane NA Plays a critical role in endothelial cell capillary morphogenesis. N-glycosylated. Belongs to the plexin family. NA PE1 17 +NX_Q8IUK8 Cerebellin-2 224 24084 8.8 0 Secreted NA May play role in synaptogenesis induction. NA NA NA PE1 18 +NX_Q8IUL8 Cartilage intermediate layer protein 2 1156 126291 8.63 0 Extracellular matrix NA May play a role in cartilage scaffolding. May be cleaved into 2 chains possibly by a furin-like protease upon or preceding secretion. NA NA PE1 19 +NX_Q8IUM7 Neuronal PAS domain-containing protein 4 802 87117 4.53 0 Nucleus NA Transcription factor expressed in neurons of the brain that regulates the excitatory-inhibitory balance within neural circuits and is required for contextual memory in the hyppocampus (By similarity). Plays a key role in the structural and functional plasticity of neurons (By similarity). Acts as an early-response transcription factor in both excitatory and inhibitory neurons, where it induces distinct but overlapping sets of late-response genes in these two types of neurons, allowing the synapses that form on inhibitory and excitatory neurons to be modified by neuronal activity in a manner specific to their function within a circuit, thereby facilitating appropriate circuit responses to sensory experience (By similarity). In excitatory neurons, activates transcription of BDNF, which in turn controls the number of GABA-releasing synapses that form on excitatory neurons, thereby promoting an increased number of inhibitory synapses on excitatory neurons (By similarity). In inhibitory neurons, regulates a distinct set of target genes that serve to increase excitatory input onto somatostatin neurons, probably resulting in enhanced feedback inhibition within cortical circuits (By similarity). The excitatory and inhibitory balance in neurons affects a number of processes, such as short-term and long-term memory, acquisition of experience, fear memory, response to stress and social behavior (By similarity). Acts as a regulator of dendritic spine development in olfactory bulb granule cells in a sensory-experience-dependent manner by regulating expression of MDM2 (By similarity). Efficient DNA binding requires dimerization with another bHLH protein, such as ARNT, ARNT2 or BMAL1 (PubMed:14701734). Can activate the CME (CNS midline enhancer) element (PubMed:14701734). Ubiquitinated, leading to degradation by the proteosome. NA NA PE1 11 +NX_Q8IUN9 C-type lectin domain family 10 member A 316 35446 5.66 1 Membrane NA Probable role in regulating adaptive and innate immune responses. Binds in a calcium-dependent manner to terminal galactose and N-acetylgalactosamine units, linked to serine or threonine. These sugar moieties are known as Tn-Ag and are expressed in a variety of carcinoma cells. NA NA Dectin-2 family PE1 17 +NX_Q8IUQ0 Clavesin-1 354 40788 6.68 0 Early endosome membrane;Clathrin-coated vesicle;trans-Golgi network membrane NA Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). NA NA Lysosome Vesicle Biogenesis PE1 8 +NX_Q8IUQ4 E3 ubiquitin-protein ligase SIAH1 282 31123 6.35 0 Cytoplasm;Nucleoplasm;Mitochondrion;Nucleus NA E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation (ELL2, MYB, POU2AF1, PML and RBBP8), a cell surface receptor (DCC), the cell-surface receptor-type tyrosine kinase FLT3, the cytoplasmic signal transduction molecules (KLF10/TIEG1 and NUMB), an antiapoptotic protein (BAG1), a microtubule motor protein (KIF22), a protein involved in synaptic vesicle function in neurons (SYP), a structural protein (CTNNB1) and SNCAIP. Confers constitutive instability to HIPK2 through proteasomal degradation. It is thereby involved in many cellular processes such as apoptosis, tumor suppression, cell cycle, axon guidance, transcription regulation, spermatogenesis and TNF-alpha signaling. Has some overlapping function with SIAH2. Induces apoptosis in cooperation with PEG3. Upon nitric oxid (NO) generation that follows apoptotic stimulation, interacts with S-nitrosylated GAPDH, mediating the translocation of GAPDH to the nucleus. GAPDH acts as a stabilizer of SIAH1, facilitating the degradation of nuclear proteins. Phosphorylated on Ser-19 by ATM and ATR. This phosphorylation disrupts SIAH1 interaction with HIPK2, and subsequent proteasomal degradation of HIPK2. Belongs to the SINA (Seven in absentia) family. Protein modification; protein ubiquitination.;p53 signaling pathway;Ubiquitin mediated proteolysis;Wnt signaling pathway;Antigen processing: Ubiquitination & Proteasome degradation;Amyloid fiber formation;Netrin-1 signaling PE1 16 +NX_Q8IUR0 Trafficking protein particle complex subunit 5 188 20783 9.69 0 cis-Golgi network;Endoplasmic reticulum;Cytoplasmic vesicle NA May play a role in vesicular transport from endoplasmic reticulum to Golgi. NA Belongs to the TRAPP small subunits family. BET3 subfamily. COPII-mediated vesicle transport;RAB GEFs exchange GTP for GDP on RABs PE1 19 +NX_Q8IUR5 Protein O-mannosyl-transferase TMTC1 882 98847 9.05 9 Membrane;Nucleoplasm;Cytosol;Endoplasmic reticulum NA Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3. NA Belongs to the TMTC family. Protein modification; protein glycosylation. PE1 12 +NX_Q8IUR6 CREB3 regulatory factor 639 72149 4.76 0 Nucleoplasm;Nucleus NA Acts as a negative regulator of the endoplasmic reticulum stress response or unfolded protein response (UPR). Represses the transcriptional activity of CREB3 during the UPR. Recruits CREB3 into nuclear foci. Probably degraded by the proteasome. Belongs to the bZIP family. CREBRF subfamily. CREB3 factors activate genes PE1 5 +NX_Q8IUR7 Armadillo repeat-containing protein 8 673 75509 6.28 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. NA NA Neutrophil degranulation PE1 3 +NX_Q8IUS5 Epoxide hydrolase 4 362 42324 8.64 1 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the AB hydrolase superfamily. Epoxide hydrolase family. NA PE1 1 +NX_Q8IUW3 Spermatogenesis-associated protein 2-like protein 424 46179 5.35 0 Nucleoplasm;Cytosol;Mitochondrion NA NA NA Belongs to the SPATA2 family. NA PE1 16 +NX_Q8IUW5 RELT-like protein 1 271 29340 8.57 1 Cytoskeleton;Cell membrane NA Induces activation of MAPK14/p38 cascade, when overexpressed (PubMed:28688764). Induces apoptosis, when overexpressed (PubMed:19969290). Phosphorylated in vitro by OXSR1. Belongs to the RELT family. NA PE1 4 +NX_Q8IUX1 Complex I assembly factor TMEM126B, mitochondrial 230 25943 8.96 4 Mitochondrion membrane;Mitochondrion Mitochondrial complex I deficiency, nuclear type 29 Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I. NA Belongs to the TMEM126 family. Complex I biogenesis PE1 11 +NX_Q8IUX4 DNA dC->dU-editing enzyme APOBEC-3F 373 45020 6.85 0 Cytoplasm;P-body NA DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. Exhibits antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single- or double-stranded RNA. Exhibits antiviral activity also against hepatitis B virus (HBV), equine infectious anemia virus (EIAV), xenotropic MuLV-related virus (XMRV) and simian foamy virus (SFV) and may inhibit the mobility of LTR and non-LTR retrotransposons. May also play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation. NA Belongs to the cytidine and deoxycytidylate deaminase family. NA PE1 22 +NX_Q8IUX7 Adipocyte enhancer-binding protein 1 1158 130929 5.05 0 Cytoplasm;Secreted;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus Ehlers-Danlos syndrome, classic-like, 2 May positively regulate MAP-kinase activity in adipocytes, leading to enhanced adipocyte proliferation and reduced adipocyte differentiation. May also positively regulate NF-kappa-B activity in macrophages by promoting the phosphorylation and subsequent degradation of I-kappa-B-alpha (NFKBIA), leading to enhanced macrophage inflammatory responsiveness. Can act as a transcriptional repressor.;As a positive regulator of collagen fibrillogenesis, it is probably involved in the organization and remodeling of the extracellualr matrix. Phosphorylated by MAPK1 in vitro. Belongs to the peptidase M14 family. NA PE1 7 +NX_Q8IUX8 Epidermal growth factor-like protein 6 553 61317 8.45 0 Basement membrane NA May bind integrin alpha-8/beta-1 and play a role in hair follicle morphogenesis. Promotes matrix assembly (By similarity). NA Belongs to the nephronectin family. NA PE1 X +NX_Q8IUY3 GRAM domain-containing protein 2A 354 40249 8.73 1 Endoplasmic reticulum membrane;Nucleus speckle;Cell membrane;Nucleolus;Cytosol NA Participates in the organization of endoplasmic reticulum-plasma membrane contact sites (EPCS) with pleiotropic functions including STIM1 recruitment and calcium homeostasis. Constitutive tether that co-localize with ESYT2/3 tethers at endoplasmic reticulum-plasma membrane contact sites in a phosphatidylinositol lipid-dependent manner. Pre-marks the subset of phosphtidylinositol 4,5-biphosphate (PI(4,5)P2)-enriched EPCS destined for the store operated calcium entry pathway (SOCE). NA NA NA PE1 15 +NX_Q8IUZ0 Leucine-rich repeat-containing protein 49 686 78894 7.94 0 Cytoskeleton NA NA NA NA Carboxyterminal post-translational modifications of tubulin PE1 15 +NX_Q8IUZ5 5-phosphohydroxy-L-lysine phospho-lyase 450 49711 6.28 0 Mitochondrion Phosphohydroxylysinuria Catalyzes the pyridoxal-phosphate-dependent breakdown of 5-phosphohydroxy-L-lysine, converting it to ammonia, inorganic phosphate and 2-aminoadipate semialdehyde. NA Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family. Collagen degradation;Lysine catabolism PE1 5 +NX_Q8IV01 Synaptotagmin-12 421 46537 5.37 1 Synaptic vesicle membrane NA Synaptic vesicle phosphoprotein that enhances spontaneous neurotransmitter release but does not effect induced neurotransmitter release (By similarity). Unlike other synaptotagmins, it does not bind Ca(2+) or phospholipids (By similarity). Essential for mossy-fiber long-term potentiation in the hippocampus (By similarity). Phosphorylation of Ser-97 is required for mossy-fiber long-term potentiation. Belongs to the synaptotagmin family. Neurexins and neuroligins PE1 11 +NX_Q8IV03 Leucine rich adaptor protein 1-like 231 24583 4.98 0 Nucleoplasm;Nucleolus NA NA NA NA NA PE1 9 +NX_Q8IV04 Carabin 446 49712 9.03 0 Nucleus NA Inhibits the Ras signaling pathway through its intrinsic Ras GTPase-activating protein (GAP) activity. Acts as a negative feedback inhibitor of the calcineurin signaling pathway that also mediates crosstalk between calcineurin and Ras. NA NA Neutrophil degranulation;TBC/RABGAPs PE1 11 +NX_Q8IV08 Phospholipase D3 490 54705 6.02 1 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum membrane Spinocerebellar ataxia 46 May be involved in APP processing. Glycosylated. Belongs to the phospholipase D family. Role of phospholipids in phagocytosis;Synthesis of PG PE1 19 +NX_Q8IV13 Cyclin-J-like protein 435 48406 7.28 0 Nucleus speckle NA NA NA Belongs to the cyclin family. Cyclin J subfamily. NA PE1 5 +NX_Q8IV16 Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 184 19806 4.71 0 Basolateral cell membrane;Apical cell membrane;Cell membrane Hyperlipoproteinemia 1D Mediates the transport of lipoprotein lipase LPL from the basolateral to the apical surface of endothelial cells in capillaries (By similarity). Anchors LPL on the surface of endothelial cells in the lumen of blood capillaries (By similarity). Protects LPL against loss of activity, and against ANGPTL4-mediated unfolding (PubMed:27929370, PubMed:29899144). Thereby, plays an important role in lipolytic processing of chylomicrons by LPL, triglyceride metabolism and lipid homeostasis (PubMed:19304573, PubMed:21314738). Binds chylomicrons and phospholipid particles that contain APOA5 (PubMed:17997385, PubMed:19304573). Binds high-density lipoprotein (HDL) and plays a role in the uptake of lipids from HDL (By similarity). Sulfation of a Tyr in the N-terminal acidic region increases the affinity for LPL.;Glycosylation of Asn-78 is critical for cell surface localization. NA Retinoid metabolism and transport;Post-translational modification: synthesis of GPI-anchored proteins;Assembly of active LPL and LIPC lipase complexes;Chylomicron remodeling PE1 8 +NX_Q8IV20 Laccase domain-containing protein 1 430 47780 6.64 0 Peroxisome Rheumatoid arthritis systemic juvenile Central regulator of the metabolic function and bioenergetic state of macrophages. In macrophages, promotes flux through de novo lipogenesis to concomitantly drive high levels of both fatty-acid oxidation and glycolysis. NA Belongs to the LACC1 family. NA PE1 13 +NX_Q8IV31 Transmembrane protein 139 216 23729 4.7 1 Membrane;Focal adhesion;Cell membrane NA May be involved in cellular trafficking of proteins such as SLC4A1. NA NA NA PE1 7 +NX_Q8IV32 Coiled-coil domain-containing protein 71 467 49648 11.8 0 Nucleus membrane NA NA NA NA NA PE1 3 +NX_Q8IV33 Uncharacterized protein KIAA0825 1275 147735 6.18 0 NA NA NA NA NA NA PE1 5 +NX_Q8IV35 WD repeat-containing protein 49 697 79295 8.76 0 Nucleoplasm;Cytosol;Nucleus NA NA NA NA NA PE2 3 +NX_Q8IV36 Protein HID1 788 88745 5.69 0 Golgi apparatus;Cytoplasm;Cytosol;Golgi apparatus membrane NA May play an important role in the development of cancers in a broad range of tissues. NA Belongs to the hid-1 family. NA PE1 17 +NX_Q8IV38 Ankyrin repeat and MYND domain-containing protein 2 441 49299 5.88 0 Cytoplasm;Cilium;Nucleoplasm;Cytosol;Nucleus NA May be involved in the trafficking of signaling proteins to the cilia. NA NA NA PE1 7 +NX_Q8IV42 L-seryl-tRNA(Sec) kinase 348 39527 8.62 0 Nucleolus;Nucleus;Cytoskeleton NA Specifically phosphorylates seryl-tRNA(Sec) to O-phosphoseryl-tRNA(Sec), an activated intermediate for selenocysteine biosynthesis. NA Belongs to the L-seryl-tRNA(Sec) kinase family. Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; selenocysteinyl-tRNA(Sec) from L-seryl-tRNA(Sec) (archaeal/eukaryal route): step 1/2.;Selenocompound metabolism;Aminoacyl-tRNA biosynthesis;Selenocysteine synthesis PE1 10 +NX_Q8IV45 UNC5C-like protein 518 57818 6.21 1 Membrane;Cytoplasm;Centrosome NA Inhibits NF-kappa-B-dependent transcription by impairing NF-kappa-B binding to its targets. NA Belongs to the unc-5 family. NA PE1 6 +NX_Q8IV48 3'-5' exoribonuclease 1 349 40064 6.29 0 Cytoplasm;Nucleolus;Cytoplasmic vesicle;Nucleus;Cytoskeleton NA RNA exonuclease that binds to the 3'-end of histone mRNAs and degrades them, suggesting that it plays an essential role in histone mRNA decay after replication. A 2' and 3'-hydroxyl groups at the last nucleotide of the histone 3'-end is required for efficient degradation of RNA substrates. Also able to degrade the 3'-overhangs of short interfering RNAs (siRNAs) in vitro, suggesting a possible role as regulator of RNA interference (RNAi). Requires for binding the 5'-ACCCA-3' sequence present in stem-loop structure. Able to bind other mRNAs. Required for 5.8S rRNA 3'-end processing. Also binds to 5.8s ribosomal RNA. Binds with high affinity to the stem-loop structure of replication-dependent histone pre-mRNAs. NA NA Major pathway of rRNA processing in the nucleolus and cytosol PE1 8 +NX_Q8IV50 LysM and putative peptidoglycan-binding domain-containing protein 2 215 23463 5.27 0 Mitochondrion;Nucleus NA NA NA NA NA PE1 15 +NX_Q8IV53 DENN domain-containing protein 1C 801 87065 5.46 0 Nucleoplasm;Clathrin-coated vesicle;Cytosol;Centrosome NA Guanine nucleotide exchange factor (GEF) which may activate RAB8A, RAB13 and RAB35. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. NA NA RAB GEFs exchange GTP for GDP on RABs PE1 19 +NX_Q8IV56 Proline-rich protein 15 129 13715 9.64 0 Cytoplasmic vesicle;Cell junction NA May have a role in proliferation and/or differentiation. NA Belongs to the PRR15 family. NA PE1 7 +NX_Q8IV61 Ras guanyl-releasing protein 3 690 78332 6.33 0 Golgi apparatus;Nucleoplasm NA Guanine nucleotide exchange factor (GEF) for Ras and Rap1. NA Belongs to the RASGRP family. MAPK signaling pathway;B cell receptor signaling pathway;RAF/MAP kinase cascade;Activation of RAS in B cells PE1 2 +NX_Q8IV63 Inactive serine/threonine-protein kinase VRK3 474 52881 9.21 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Inactive kinase that suppresses ERK activity by promoting phosphatase activity of DUSP3 which specifically dephosphorylates and inactivates ERK in the nucleus. VRK3 is phosphorylated by PLK3 Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. VRK subfamily. ERKs are inactivated PE1 19 +NX_Q8IV76 Circadian clock protein PASD1 773 87428 4.96 0 Nucleus speckle;Nucleus NA Functions as a suppressor of the biological clock that drives the daily circadian rhythms of cells throughout the body (PubMed:25936801). Acts as a nuclear repressor of the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock components (PubMed:25936801). Inhibits circadian clock function in cancer cells, when overexpressed (PubMed:25936801). NA NA NA PE1 X +NX_Q8IV77 Cyclic nucleotide-gated cation channel alpha-4 575 65999 5.4 6 Membrane NA Second messenger, cAMP, causes the opening of cation-selective cyclic nucleotide-gated (CNG) channels and depolarization of the neuron (olfactory sensory neurons, OSNs). CNGA4 is the modulatory subunit of this channel which is known to play a central role in the transduction of odorant signals and subsequent adaptation. By accelerating the calcium-mediated negative feedback in olfactory signaling it allows rapid adaptation to odor stimulation and extends its range of odor detection (By similarity). NA Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA4 subfamily. Olfactory transduction;VxPx cargo-targeting to cilium PE1 11 +NX_Q8IVA1 Purkinje cell protein 2 homolog 136 14547 4.67 0 Cytoplasmic vesicle;Nucleus speckle NA May function as a cell-type specific modulator for G protein-mediated cell signaling. NA NA G alpha (i) signalling events PE1 19 +NX_Q8IVB4 Sodium/hydrogen exchanger 9 645 72565 5.8 13 Late endosome membrane Autism 16 May act in electroneutral exchange of protons for Na(+) across membranes. Involved in the effusion of Golgi luminal H(+) in exchange for cytosolic cations. Involved in organelle ion homeostasis by contributing to the maintenance of the unique acidic pH values of the Golgi and post-Golgi compartments in the cell. NA Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. Sodium/Proton exchangers;Defective SLC9A9 causes autism 16 (AUTS16) PE1 3 +NX_Q8IVB5 LIX1-like protein 337 36563 8.8 0 Cytosol NA NA NA Belongs to the LIX1 family. NA PE1 1 +NX_Q8IVC4 Zinc finger protein 584 421 48272 9.05 0 Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8IVD9 NudC domain-containing protein 3 361 40822 5.16 0 Nucleoplasm;Cytosol;Cell membrane NA NA NA NA NA PE1 7 +NX_Q8IVE0 Putative ciliary rootlet coiled-coil protein-like 2 protein 287 33334 10.84 0 NA NA NA NA Belongs to the rootletin family. NA PE5 1 +NX_Q8IVE3 Pleckstrin homology domain-containing family H member 2 1493 168229 7.5 0 Cytoplasm;Cell membrane;Nucleoplasm;Lamellipodium;Cytosol;Nucleus;Cytoskeleton NA In the kidney glomerulus may play a role in linking podocyte foot processes to the glomerular basement membrane. May be involved in stabilization of F-actin by attenuating its depolymerization. Can recruit TGFB1I1 from focal adhesions to podocyte lamellipodia. NA NA NA PE1 2 +NX_Q8IVF1 NUT family member 2A 878 93890 8.6 0 NA NA NA NA Belongs to the NUT family. NA PE2 10 +NX_Q8IVF2 Protein AHNAK2 5795 616629 5.2 0 Cytosol;Nucleus;Cell membrane NA NA NA NA NA PE1 14 +NX_Q8IVF4 Dynein heavy chain 10, axonemal 4471 514841 5.64 0 Cilium axoneme NA Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity). Probable inner arm dynein heavy chain. NA Belongs to the dynein heavy chain family. NA PE1 12 +NX_Q8IVF5 T-lymphoma invasion and metastasis-inducing protein 2 1701 190103 6.8 0 Cytoplasm;Perikaryon;Growth cone;Nucleolus;Nucleoplasm;Lamellipodium;Filopodium;Cytosol;Neuron projection NA Modulates the activity of RHO-like proteins and connects extracellular signals to cytoskeletal activities. Acts as a GDP-dissociation stimulator protein that stimulates the GDP-GTP exchange activity of RHO-like GTPases and activates them. Mediates extracellular laminin signals to activate Rac1, contributing to neurite growth. Involved in lamellipodial formation and advancement of the growth cone of embryonic hippocampal neurons. Promotes migration of neurons in the cerebral cortex. When overexpressed, induces membrane ruffling accompanied by the accumulation of actin filaments along the altered plasma membrane (By similarity). Activates specifically RAC1, but not CDC42 and RHOA. Phosphorylated on serine and threonine residues. Phosphorylated on Thr-1648 by Rho-kinase. Its phosphorylation by Rho-kinase inhibits its guanine nucleotide exchange activity, its interaction with MAP1A, MAP1B, PARP1 and YWHAE and reduces its ability to promote neurite growth (By similarity). Belongs to the TIAM family. Chemokine signaling pathway;Regulation of actin cytoskeleton;PPARA activates gene expression;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 6 +NX_Q8IVF6 Ankyrin repeat domain-containing protein 18A 992 115597 7.92 0 NA NA NA NA NA NA PE2 9 +NX_Q8IVF7 Formin-like protein 3 1028 117213 6.23 0 Golgi apparatus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol NA Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. Required for developmental angiogenesis (By similarity). In this process, required for microtubule reorganization and for efficient endothelial cell elongation. In quiescent endothelial cells, triggers rearrangement of the actin cytoskeleton, but does not alter microtubule alignement. NA Belongs to the formin homology family. RHO GTPases Activate Formins PE1 12 +NX_Q8IVG5 Sterile alpha motif domain-containing protein 9-like 1584 184533 8.25 0 Early endosome;Cytosol Ataxia-pancytopenia syndrome May be involved in endosome fusion. Mediates down-regulation of growth factor signaling via internalization of growth factor receptors. NA NA NA PE1 7 +NX_Q8IVG9 Humanin 24 2687 9.49 0 Cytoplasm;Secreted NA Plays a role as a neuroprotective factor. Protects against death induced by multiple different familial Alzheimer disease genes and amyloid-beta proteins in Alzheimer disease. Suppresses apoptosis by binding to BAX and preventing the translocation of BAX from the cytosol to mitochondria. Binds to IGFBP3 and specifically blocks IGFBP3-induced cell death Induces chemotaxis of mononuclear phagocytes via FPR2. Reduces the aggregation and fibrillary formation by suppressing the effect of APP on mononuclear phagocytes and acts by competitively inhibiting the access of FPRL1 to APP. NA Belongs to the humanin family. G alpha (i) signalling events;G alpha (q) signalling events;Formyl peptide receptors bind formyl peptides and many other ligands PE1 MT +NX_Q8IVH2 Forkhead box protein P4 680 73488 5.97 0 Nucleoplasm;Cytosol;Nucleus NA Transcriptional repressor that represses lung-specific expression. NA NA NA PE1 6 +NX_Q8IVH4 Methylmalonic aciduria type A protein, mitochondrial 418 46538 9.37 0 Cytosol;Mitochondrion Methylmalonic aciduria type cblA GTPase, binds and hydrolyzes GTP (PubMed:28497574, PubMed:20876572). Involved in intracellular vitamin B12 metabolism, mediates the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis. Functions as a G-protein chaperone that assists AdoCbl cofactor delivery from MMAB to the methylmalonyl-CoA mutase (MMUT) and reactivation of the enzyme during catalysis (PubMed:28497574, PubMed:20876572). NA Belongs to the SIMIBI class G3E GTPase family. ArgK/MeaB subfamily. Cofactor biosynthesis; adenosylcobalamin biosynthesis.;Cobalamin (Cbl, vitamin B12) transport and metabolism;Defective MMAA causes methylmalonic aciduria type cblA;Defective MUT causes methylmalonic aciduria mut type;Propionyl-CoA catabolism PE1 4 +NX_Q8IVH8 Mitogen-activated protein kinase kinase kinase kinase 3 894 101316 7.38 0 Nucleoplasm;Centriolar satellite NA May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway. NA Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. MAPK signaling pathway PE1 2 +NX_Q8IVI9 Nostrin 506 57660 9.08 0 Cell membrane;Cytoplasmic vesicle;Cytosol;Nucleus;Cytoskeleton NA Multivalent adapter protein which may decrease NOS3 activity by inducing its translocation away from the plasma membrane. NA NA NOSTRIN mediated eNOS trafficking PE1 2 +NX_Q8IVJ1 Solute carrier family 41 member 1 513 54901 5.12 10 Mitochondrion;Cell membrane NA Acts as a magnesium transporter that is responsive to magnesium balance. NA Belongs to the SLC41A transporter family. Metal ion SLC transporters PE1 1 +NX_Q8IVJ8 AP20 region protein 1 170 18525 10.7 1 Membrane NA NA NA NA NA PE2 3 +NX_Q8IVK1 Putative glycosylation-dependent cell adhesion molecule 1 47 5018 9.3 0 NA NA NA NA Belongs to the PP3/GlyCAM-1 family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE5 12 +NX_Q8IVL0 Neuron navigator 3 2385 255648 8.92 0 Nucleus outer membrane;Cytosol;Nucleus membrane NA May regulate IL2 production by T-cells. May be involved in neuron regeneration. NA Belongs to the Nav/unc-53 family. NA PE1 12 +NX_Q8IVL1 Neuron navigator 2 2488 268167 9.13 0 Nucleoplasm;Nucleus NA Possesses 3' to 5' helicase activity and exonuclease activity. Involved in neuronal development, specifically in the development of different sensory organs. NA Belongs to the Nav/unc-53 family. NA PE1 11 +NX_Q8IVL5 Prolyl 3-hydroxylase 2 708 80984 5.48 0 Sarcoplasmic reticulum;Golgi apparatus;Nucleoplasm;Endoplasmic reticulum Myopia, high, with cataract and vitreoretinal degeneration Prolyl 3-hydroxylase that catalyzes the post-translational formation of 3-hydroxyproline on collagens (PubMed:18487197). Contributes to proline 3-hydroxylation of collagen COL4A1 and COL1A1 in tendons, the eye sclera and in the eye lens capsule (By similarity). Has high activity with the type IV collagen COL4A1, and lower activity with COL1A1 (PubMed:18487197). Catalyzes hydroxylation of the first Pro in Gly-Pro-Hyp sequences where Hyp is 4-hydroxyproline (PubMed:18487197). Has no activity on substrates that lack 4-hydroxyproline in the third position (PubMed:18487197). NA Belongs to the leprecan family. Collagen biosynthesis and modifying enzymes PE1 3 +NX_Q8IVL6 Prolyl 3-hydroxylase 3 736 81837 5.93 0 Endoplasmic reticulum;Cytosol;Nucleolus;Cell membrane NA Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils. Required for normal hydroxylation of lysine residues in type I collagen chains in skin, bone, tendon, aorta and cornea. Required for normal skin stability via its role in hydroxylation of lysine residues in collagen alpha chains and in collagen fibril assembly. Apparently not required for normal prolyl 3-hydroxylation on collagen chains, possibly because it functions redundantly with other prolyl 3-hydroxylases. NA Belongs to the leprecan family. Collagen biosynthesis and modifying enzymes PE1 12 +NX_Q8IVL8 Carboxypeptidase O 374 42529 6.6 0 Apical cell membrane NA Carboxypeptidase which preferentially cleaves C-terminal acidic residues from peptides and proteins. Can also cleave C-terminal hydrophobic amino acids, with a preference for small residues over large residues. N-glycosylated. Belongs to the peptidase M14 family. NA PE1 2 +NX_Q8IVM0 Coiled-coil domain-containing protein 50 306 35822 6.2 0 Cytoplasm;Cytosol Deafness, autosomal dominant, 44 Involved in EGFR signaling. Phosphorylated on tyrosine residues. NA NA PE1 3 +NX_Q8IVM7 Putative uncharacterized protein encoded by LINC00346 164 18094 9.29 0 NA NA NA NA NA NA PE5 13 +NX_Q8IVM8 Solute carrier family 22 member 9 553 62169 8.4 12 Basolateral cell membrane NA Sodium-independent organic anion transporter which exhibits high specificity for sulfated conjugates of xenobiotics and steroid hormones. It is also specifically activated by 3 to 5 carbons-containing short-chain fatty acids/SCFAs, including propionate, butyrate and valerate. May operate the exchange of sulfated organic components against short-chain fatty acids/SCFAs at the sinusoidal membrane of hepatocytes. NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. NA PE1 11 +NX_Q8IVN3 Musculoskeletal embryonic nuclear protein 1 82 8911 9.87 0 Nucleus NA May be involved in the development and regeneration of the musculoskeletal system. NA Belongs to the MUSTANG family. NA PE1 3 +NX_Q8IVN8 Somatomedin-B and thrombospondin type-1 domain-containing protein 264 29610 7.71 0 Cytoplasmic vesicle;Extracellular matrix NA NA NA Belongs to the thrombospondin family. O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 8 +NX_Q8IVP5 FUN14 domain-containing protein 1 155 17178 8.67 3 Mitochondrion outer membrane NA Acts as an activator of hypoxia-induced mitophagy, an important mechanism for mitochondrial quality control. Phosphorylation at Tyr-18 by SRC inhibits activation of mitophagy. Following hypoxia, dephosphorylated at Tyr-18, leading to interaction with MAP1 LC3 family proteins and triggering mitophagy. Belongs to the FUN14 family. Receptor Mediated Mitophagy PE1 X +NX_Q8IVP9 Zinc finger protein 547 402 45956 8.71 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8IVQ6 Palmitoyltransferase ZDHHC21 265 31385 8.81 4 Membrane;Golgi apparatus;Cytosol NA Palmitoylates sex steroid hormone receptors, including ESR1, PGR and AR, thereby regulating their targeting to the plasma membrane. This affects rapid intracellular signaling by sex hormones via ERK and AKT kinases and the generation of cAMP, but does not affect that mediated by their nuclear receptor (By similarity). NA Belongs to the DHHC palmitoyltransferase family. eNOS activation;Extra-nuclear estrogen signaling PE1 9 +NX_Q8IVS2 Malonyl-CoA-acyl carrier protein transacylase, mitochondrial 390 42962 8.97 0 Mitochondrion NA Catalyzes the transfer of a malonyl moiety from malonyl-CoA to the free thiol group of the phosphopantetheine arm of the mitochondrial ACP protein (NDUFAB1). This suggests the existence of the biosynthesis of fatty acids in mitochondria. NA Belongs to the type II malonyltransferase family. Lipid metabolism; fatty acid biosynthesis.;Fatty acid biosynthesis;Metabolic pathways;Mitochondrial Fatty Acid Beta-Oxidation PE1 22 +NX_Q8IVS8 Glycerate kinase 523 55253 6.25 0 Golgi apparatus;Cytosol;Cytoplasm;Mitochondrion D-glyceric aciduria NA NA Belongs to the glycerate kinase type-2 family. Glycine, serine and threonine metabolism;Glycerolipid metabolism;Glyoxylate and dicarboxylate metabolism;Metabolic pathways;Fructose catabolism PE1 3 +NX_Q8IVT2 Mitotic interactor and substrate of PLK1 679 75357 6.36 0 Cell cortex;Focal adhesion;Cell membrane;Cytoskeleton NA Plays a role in mitotic spindle orientation and mitotic progression. Regulates the distribution of dynactin at the cell cortex in a PLK1-dependent manner, thus stabilizing cortical and astral microtubule attachments required for proper mitotic spindle positioning. May link microtubules to the actin cytospkeleton and focal adhesions. May be required for directed cell migration and centrosome orientation. May also be necessary for proper stacking of the Golgi apparatus. Phosphorylated by CDK1 and PLK1. CDK1 is the priming kinase for PLK1 phosphorylation. Phosphorylation by PLK1 is required for proper spindle orientation at metaphase. Belongs to the MISP family. NA PE1 19 +NX_Q8IVT5 Kinase suppressor of Ras 1 923 102160 8.94 0 Cytoplasm;Endoplasmic reticulum membrane;Cell membrane;Membrane;Ruffle membrane NA Part of a multiprotein signaling complex which promotes phosphorylation of Raf family members and activation of downstream MAP kinases (By similarity). Independently of its kinase activity, acts as MAP2K1/MEK1 and MAP2K2/MEK2-dependent allosteric activator of BRAF; upon binding to MAP2K1/MEK1 or MAP2K2/MEK2, dimerizes with BRAF and promotes BRAF-mediated phosphorylation of MAP2K1/MEK1 and/or MAP2K2/MEK2 (PubMed:29433126). Promotes activation of MAPK1 and/or MAPK3, both in response to EGF and to cAMP (By similarity). Its kinase activity is unsure (By similarity). Some protein kinase activity has been detected in vitro, however the physiological relevance of this activity is unknown (By similarity). Phosphorylated on Ser-311 and, to a higher extent, on Ser-406 by MARK3. Dephosphorylated on Ser-406 by PPP2CA. In resting cells, phosphorylated KSR1 is cytoplasmic and in stimulated cells, dephosphorylated KSR1 is membrane-associated. Phosphorylated by PKA at Ser-888. Phosphorylation at Ser-888 is required for cAMP-dependent activation of MAPK1 and/or MAPK3 (By similarity). Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Tuberculosis;Negative regulation of MAPK pathway;RAF activation;MAP2K and MAPK activation;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 17 +NX_Q8IVU1 Immunoglobulin superfamily DCC subclass member 3 814 86724 7.58 1 Membrane;Nucleoplasm;Cytoplasmic vesicle NA NA NA Belongs to the immunoglobulin superfamily. DCC family. NA PE1 15 +NX_Q8IVU3 Probable E3 ubiquitin-protein ligase HERC6 1022 115126 8.22 0 Nucleoplasm;Cytosol NA E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 4 +NX_Q8IVU9 Ciliary-associated calcium-binding coiled-coil protein 1 208 23883 4.36 0 Cytoplasm;Nucleoplasm;Centrosome;Flagellum;Cytosol NA Calcium-binding protein. May be involved in the control of sperm flagellar movement. NA NA NA PE1 10 +NX_Q8IVV2 Lipoxygenase homology domain-containing protein 1 2067 235677 5.38 0 Stereocilium Deafness, autosomal recessive, 77 Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity). NA NA NA PE1 18 +NX_Q8IVV7 Glucose-induced degradation protein 4 homolog 300 33514 9.26 0 Cytosol NA Substrate-recognition subunit of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (Probable) (PubMed:29911972). Binds proteins and peptides with a Pro/N-degron consisting of an unmodified N-terminal Pro followed by a small residue, and has the highest affinity for the peptide Pro-Gly-Leu-Trp (PubMed:29632410). Binds peptides with an N-terminal sequence of the type Pro-[Ala,Gly]-[Leu,Met,Gln,Ser,Tyr]-[Glu,Gly,His,Ser,Val,Trp,Tyr]. Does not bind peptides with an acetylated N-terminal Pro residue (PubMed:29632410). NA Belongs to the GID4/VID24 family. NA PE1 17 +NX_Q8IVV8 Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 4 208 23240 5.43 3 Cell membrane NA NA NA Belongs to the NKAIN family. NA PE2 20 +NX_Q8IVW1 ADP-ribosylation factor-like protein 17 177 19388 9.85 0 Golgi apparatus NA GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus (By similarity). NA Belongs to the small GTPase superfamily. Arf family. NA PE1 17 +NX_Q8IVW4 Cyclin-dependent kinase-like 3 592 67514 9.35 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle NA NA NA Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. NA PE1 5 +NX_Q8IVW6 AT-rich interactive domain-containing protein 3B 561 60637 7.05 0 Nucleoplasm;Nucleus NA Transcription factor which may be involved in neuroblastoma growth and malignant transformation. Favors nuclear targeting of ARID3A. NA NA NA PE1 15 +NX_Q8IVW8 Protein spinster homolog 2 549 58044 9.43 11 Endosome membrane;Cell membrane Deafness, autosomal recessive, 115 Acts a a crucial lysosphingolipid sphingosine 1-phosphate (S1P) transporter involved in S1P secretion and function (PubMed:19074308, PubMed:23180825). S1P is a bioactive signaling molecule that regulates many physiological processes important for the development and for the immune system. Regulates levels of S1P and the S1P gradient that exists between the high circulating concentrations of S1P and low tissue levels that control lymphocyte trafficking (PubMed:19074308, PubMed:23180825). NA Belongs to the major facilitator superfamily. Spinster (TC 2.A.1.49) family. NA PE1 17 +NX_Q8IVY1 Type III endosome membrane protein TEMP 113 12024 5.46 1 Cell membrane;Recycling endosome;Early endosome;Nucleolus;Membrane NA May be involved in membrane trafficking between endosomes and plasma membrane. NA NA NA PE1 1 +NX_Q8IW00 V-set and transmembrane domain-containing protein 4 320 36146 9.88 1 Cytoplasmic vesicle;Nucleoplasm;Secreted;Cell membrane NA Peptide Lv enhances L-type voltage-gated calcium channel (L-VGCC) currents in retinal photoreceptors. Proteolytically cleaved to generate a bioactive peptide. NA NA PE1 10 +NX_Q8IW03 Seven in absentia homolog 3 269 30660 7.21 0 Mitochondrion NA Negative regulator of PRKN translocation to damaged mitochondria. Acts probably by destabilizing PINK1 protein, hence inhibiting PRKN targeting to dysfunctional depolarized mitochondria. NA Belongs to the SINA (Seven in absentia) family. NA PE2 13 +NX_Q8IW19 Aprataxin and PNK-like factor 511 56956 4.98 0 Nucleoplasm;Cytosol;Nucleus;Chromosome NA Nuclease involved in single-strand and double-strand DNA break repair (PubMed:17353262, PubMed:17396150). Recruited to sites of DNA damage through interaction with poly(ADP-ribose), a polymeric post-translational modification synthesized transiently at sites of chromosomal damage to accelerate DNA strand break repair reactions (PubMed:17353262, PubMed:17396150, PubMed:21211721). Displays apurinic-apyrimidinic (AP) endonuclease and 3'-5' exonuclease activities in vitro. Also able to introduce nicks at hydroxyuracil and other types of pyrimidine base damage (PubMed:17353262, PubMed:17396150). Together with PARP3, promotes the retention of the LIG4-XRCC4 complex on chromatin and accelerate DNA ligation during non-homologous end-joining (NHEJ) (PubMed:21211721). Poly-ADP-ribosylated. In addition to binding non covalently poly(ADP-ribose) via its PBZ-type zinc fingers, the protein is also covalently poly-ADP-ribosylated by PARP1.;Phosphorylated in an ATM-dependent manner upon double-strand DNA break. Belongs to the APLF family. NA PE1 2 +NX_Q8IW35 Centrosomal protein of 97 kDa 865 96981 4.92 0 Cytosol;Centriolar satellite;Centrosome NA Acts as a key negative regulator of ciliogenesis in collaboration with CCP110 by capping the mother centriole thereby preventing cilia formation. Required for recruitment of CCP110 to the centrosome. NA NA Anchoring of the basal body to the plasma membrane PE1 3 +NX_Q8IW36 Zinc finger protein 695 515 60149 8.98 0 Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 1 +NX_Q8IW40 Coiled-coil domain-containing protein 103 242 27163 5.74 0 Cytoplasm;Cytosol;Flagellum Ciliary dyskinesia, primary, 17 Dynein-attachment factor required for cilia motility. NA Belongs to the CCDC103/PR46b family. NA PE1 17 +NX_Q8IW41 MAP kinase-activated protein kinase 5 473 54220 7.66 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Tumor suppressor serine/threonine-protein kinase involved in mTORC1 signaling and post-transcriptional regulation. Phosphorylates FOXO3, ERK3/MAPK6, ERK4/MAPK4, HSP27/HSPB1, p53/TP53 and RHEB. Acts as a tumor suppressor by mediating Ras-induced senescence and phosphorylating p53/TP53. Involved in post-transcriptional regulation of MYC by mediating phosphorylation of FOXO3: phosphorylation of FOXO3 leads to promote nuclear localization of FOXO3, enabling expression of miR-34b and miR-34c, 2 post-transcriptional regulators of MYC that bind to the 3'UTR of MYC transcript and prevent MYC translation. Acts as a negative regulator of mTORC1 signaling by mediating phosphorylation and inhibition of RHEB. Part of the atypical MAPK signaling via its interaction with ERK3/MAPK6 or ERK4/MAPK4: the precise role of the complex formed with ERK3/MAPK6 or ERK4/MAPK4 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPK (ERK3/MAPK6 or ERK4/MAPK4), ERK3/MAPK6 (or ERK4/MAPK4) is phosphorylated and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK3/MAPK6 (or ERK4/MAPK4). Mediates phosphorylation of HSP27/HSPB1 in response to PKA/PRKACA stimulation, inducing F-actin rearrangement. Phosphorylated on Thr-182 ERK3/MAPK6 or ERK4/MAPK4; which is the regulatory phosphorylation site and is located on the T-loop/loop 12, leading to activation. Phosphorylation at Thr-182 by p38-alpha/MAPK14, p38-beta/MAPK11 is subject to debate. Phosphorylated at Ser-115 by PKA/PRKACA, leading to localization to the cytoplasm. Autophosphorylated (By similarity). Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. MAPK signaling pathway;MAPK6/MAPK4 signaling;Oxidative Stress Induced Senescence;Regulation of TP53 Activity through Phosphorylation PE1 12 +NX_Q8IW45 ATP-dependent (S)-NAD(P)H-hydrate dehydratase 347 36576 8.21 0 Mitochondrion Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 Catalyzes the dehydration of the S-form of NAD(P)HX at the expense of ATP, which is converted to ADP. Together with NAD(P)HX epimerase, which catalyzes the epimerization of the S- and R-forms, the enzyme allows the repair of both epimers of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration. NA Belongs to the NnrD/CARKD family. Nicotinamide salvaging PE1 13 +NX_Q8IW50 Protein FAM219A 185 20400 4.53 0 Golgi apparatus;Nucleoplasm;Cytoplasmic vesicle NA NA NA Belongs to the FAM219 family. NA PE1 9 +NX_Q8IW52 SLIT and NTRK-like protein 4 837 94331 7.95 1 Membrane;Cytoskeleton;Cell membrane NA It is involved in synaptogenesis and promotes synapse differentiation (PubMed:27812321). Suppresses neurite outgrowth (By similarity). NA Belongs to the SLITRK family. Receptor-type tyrosine-protein phosphatases PE1 X +NX_Q8IW70 Transmembrane protein 151B 566 61506 6.72 2 Membrane NA NA NA Belongs to the TMEM151 family. NA PE1 6 +NX_Q8IW75 Serpin A12 414 47175 9.31 0 Secreted NA Adipokine that modulates insulin action by specifically inhibiting its target protease KLK7 in white adipose tissues. Glycosylation slightly decreases affinity for heparin, but otherwise has no significant effect on KLK7 inhibitory activity or thermal stability of the protein. Belongs to the serpin family. NA PE1 14 +NX_Q8IW92 Beta-galactosidase-1-like protein 2 636 72079 7.2 0 Nucleoplasm;Secreted NA NA NA Belongs to the glycosyl hydrolase 35 family. NA PE1 11 +NX_Q8IW93 Rho guanine nucleotide exchange factor 19 802 89197 7.31 0 Nucleus NA Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase. NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 1 +NX_Q8IWA0 WD repeat-containing protein 75 830 94499 5.65 0 Nucleoplasm;Nucleolus NA Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I. NA NA Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 2 +NX_Q8IWA4 Mitofusin-1 741 84160 5.93 2 Mitochondrion outer membrane;Cytoplasm;Mitochondrion NA Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:12475957, PubMed:12759376, PubMed:27920125, PubMed:28114303). Membrane clustering requires GTPase activity (PubMed:27920125). It may involve a major rearrangement of the coiled coil domains (PubMed:27920125, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed:12475957, PubMed:12759376). Overexpression induces the formation of mitochondrial networks (in vitro) (PubMed:12759376). Has low GTPase activity (PubMed:27920125, PubMed:28114303). Ubiquitinated by non-degradative ubiquitin by PRKN (PubMed:23933751). Deubiquitination by USP30 inhibits mitochondrial fusion (By similarity). Ubiquitinated by MARCH5 (PubMed:20103533). When mitochondria are depolarized and dysfunctional, it is ubiquitinated by a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that contains FBXO7 and PRKN (PubMed:23933751). Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. Mitofusin subfamily. Factors involved in megakaryocyte development and platelet production;Pink/Parkin Mediated Mitophagy PE1 3 +NX_Q8IWA5 Choline transporter-like protein 2 706 80124 8.89 10 Membrane;Cytoplasmic vesicle;Cell junction NA But not isoform 3, exhibits some choline transporter activity. NA Belongs to the CTL (choline transporter-like) family. Synthesis of PC;Transport of bile salts and organic acids, metal ions and amine compounds;Neutrophil degranulation PE1 19 +NX_Q8IWA6 Coiled-coil domain-containing protein 60 550 63091 9.71 0 NA NA NA NA NA NA PE1 12 +NX_Q8IWB1 Inositol 1,4,5-trisphosphate receptor-interacting protein 547 62060 5.58 1 Cytoplasmic vesicle;Nucleus outer membrane;Cell membrane NA Enhances Ca(2+)-mediated inhibition of inositol 1,4,5-triphosphate receptor (ITPR) Ca(2+) release. NA Belongs to the ITPRIP family. NA PE1 10 +NX_Q8IWB4 Spermatogenesis-associated protein 31A7 1347 148734 8.96 1 Membrane NA May play a role in spermatogenesis. NA Belongs to the SPATA31 family. NA PE2 9 +NX_Q8IWB6 Inactive serine/threonine-protein kinase TEX14 1497 167901 5.04 0 Kinetochore;Cytoplasm;Cell membrane;Cell junction;Cytoplasmic vesicle;Cytosol;Midbody Spermatogenic failure 23 Required both for the formation of intercellular bridges during meiosis and for kinetochore-microtubule attachment during mitosis. Intercellular bridges are evolutionarily conserved structures that connect differentiating germ cells and are required for spermatogenesis and male fertility. Acts by promoting the conversion of midbodies into intercellular bridges via its interaction with CEP55: interaction with CEP55 inhibits the interaction between CEP55 and PDCD6IP/ALIX and TSG101, blocking cell abscission and leading to transform midbodies into intercellular bridges. Also plays a role during mitosis: recruited to kinetochores by PLK1 during early mitosis and regulates the maturation of the outer kinetochores and microtubule attachment. Has no protein kinase activity in vitro (By similarity). Phosphorylated on Thr residues by CDK1 during early phases of mitosis, promoting the interaction with PLK1 and recruitment to kinetochores. Phosphorylated on Ser-437 by PLK1 during late prometaphase promotes the rapid depletion from kinetochores and its subsequent degradation by the APC/C complex.;TEX14 is phosphorylated by CDK1 Belongs to the protein kinase superfamily. NA PE1 17 +NX_Q8IWB7 WD repeat and FYVE domain-containing protein 1 410 46324 6.99 0 Early endosome NA Positively regulates TLR3- and TLR4-mediated signaling pathways by bridging the interaction between TLR3 or TLR4 and TICAM1. Promotes TLR3/4 ligand-induced activation of transcription factors IRF3 and NF-kappa-B, as well as the production of IFN-beta and inflammatory cytokines (PubMed:25736436). NA NA NA PE1 2 +NX_Q8IWB9 Testis-expressed protein 2 1127 125303 5.71 2 Membrane;Nucleoplasm NA NA NA NA NA PE1 17 +NX_Q8IWC1 MAP7 domain-containing protein 3 876 98429 9.34 0 Spindle;Centrosome NA Promotes the assembly and stability of microtubules. NA Belongs to the MAP7 family. NA PE1 X +NX_Q8IWD4 Coiled-coil domain-containing protein 117 279 30541 4.99 0 Nucleoplasm;Cytosol;Cytoskeleton NA NA NA NA NA PE1 22 +NX_Q8IWD5 Major facilitator superfamily domain-containing protein 6-like 586 64005 8.87 11 Membrane;Endoplasmic reticulum NA NA NA Belongs to the major facilitator superfamily. MFSD6 family. NA PE2 17 +NX_Q8IWE2 Protein NOXP20 563 60742 4.61 0 Golgi apparatus;Nucleoplasm;Cytosol;Cytoplasm NA May play a role in neuronal cell development. NA Belongs to the FAM114 family. NA PE1 4 +NX_Q8IWE4 DCN1-like protein 3 304 34291 5.05 0 Nucleoplasm;Cytosol;Cell membrane NA Antagonizes DCUN1D1-mediated CUL1 neddylation by sequestering CUL1 at the cell membrane (PubMed:25349211). When overexpressed in transformed cells, may promote mesenchymal to epithelial-like changes and inhibit colony formation in soft agar (PubMed:25349211). NA NA Neddylation PE1 16 +NX_Q8IWE5 Pleckstrin homology domain-containing family M member 2 1019 112780 4.82 0 Cytoplasm NA May play a role in the regulation of conventional kinesin activity. Required for maintenance of the Golgi apparatus organization. May play a role in membrane tubulation (PubMed:15905402). May play a role in lysosomes movement and localization at the cell periphery (PubMed:25898167). NA NA Salmonella infection PE1 1 +NX_Q8IWF2 FAD-dependent oxidoreductase domain-containing protein 2 684 77791 7.39 0 Endoplasmic reticulum lumen NA Probable flavoprotein which may function in endoplasmic reticulum associated degradation (ERAD). May bind non-native proteins in the endoplasmic reticulum and target them to the ubiquitination machinery for subsequent degradation. N-glycosylated. Belongs to the FOXRED2 family. NA PE1 22 +NX_Q8IWF6 Protein DENND6A 608 69575 8.52 0 Cytoplasm;Recycling endosome;Cytoplasmic vesicle NA Guanine nucleotide exchange factor (GEF) for RAB14. Component of an endocytic recycling pathway that is required for the control of ADAM10 transport, shedding of N-cadherin/CDH2 by ADAM9 or ADAM10 and regulation of cell-cell junctions. Required for RAB14 recruitment to recycling endosomes. NA Belongs to the DENND6 family. RAB GEFs exchange GTP for GDP on RABs PE1 3 +NX_Q8IWF7 Putative ubiquitin-conjugating enzyme E2 D2-like protein 75 8761 8.85 0 NA NA NA NA Belongs to the ubiquitin-conjugating enzyme family. NA PE5 X +NX_Q8IWF9 Coiled-coil domain-containing protein 83 413 48851 5.33 0 Nucleoplasm;Cytosol;Cell membrane NA NA NA NA NA PE1 11 +NX_Q8IWG1 WD repeat-containing protein 63 891 102935 5.52 0 NA NA NA NA NA NA PE1 1 +NX_Q8IWI9 MAX gene-associated protein 3065 336159 6.48 0 Nucleoplasm;Cytosol;Nucleus NA Functions as a dual-specificity transcription factor, regulating the expression of both MAX-network and T-box family target genes. Functions as a repressor or an activator. Binds to 5'-AATTTCACACCTAGGTGTGAAATT-3' core sequence and seems to regulate MYC-MAX target genes. Suppresses transcriptional activation by MYC and inhibits MYC-dependent cell transformation. Function activated by heterodimerization with MAX. This heterodimerization serves the dual function of both generating an E-box-binding heterodimer and simultaneously blocking interaction of a corepressor (By similarity). NA NA Transcriptional Regulation by E2F6 PE1 15 +NX_Q8IWJ2 GRIP and coiled-coil domain-containing protein 2 1684 195910 5.1 0 Golgi apparatus;Cytoplasm;Nucleoplasm;trans-Golgi network membrane NA Golgin which probably tethers transport vesicles to the trans-Golgi network (TGN) and regulates vesicular transport between the endosomes and the Golgi. As a RAB9A effector it is involved in recycling of the mannose 6-phosphate receptor from the late endosomes to the TGN. May also play a role in transport between the recycling endosomes and the Golgi. Required for maintenance of the Golgi structure, it is involved in the biogenesis of noncentrosomal, Golgi-associated microtubules through recruitment of CLASP1 and CLASP2. NA NA Retrograde transport at the Trans-Golgi-Network PE1 2 +NX_Q8IWK6 Adhesion G protein-coupled receptor A3 1321 146151 8.8 7 Membrane NA Orphan receptor that may have a role in planar cell polarity pathway. NA Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE1 4 +NX_Q8IWL1 Pulmonary surfactant-associated protein A2 248 26182 5.07 0 Surface film;Extracellular matrix Pulmonary fibrosis, idiopathic In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration. N-acetylated. Belongs to the SFTPA family. Toll Like Receptor 4 (TLR4) Cascade;Toll Like Receptor TLR1:TLR2 Cascade;Signal regulatory protein family interactions;Surfactant metabolism;Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5);Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4);Defective SFTPA2 causes idiopathic pulmonary fibrosis (IPF);Regulation of TLR by endogenous ligand PE1 10 +NX_Q8IWL2 Pulmonary surfactant-associated protein A1 248 26242 4.89 0 Surface film;Extracellular matrix Respiratory distress syndrome in premature infants;Pulmonary fibrosis, idiopathic In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration. Enhances the expression of MYO18A/SP-R210 on alveolar macrophages (By similarity).;(Microbial infection) Recognition of M.tuberculosis by dendritic cells may occur partially via this molecule (PubMed:17158455, PubMed:21203928). Can recognize, bind, and opsonize pathogens to enhance their elimination by alveolar macrophages (PubMed:21123169). N-acetylated. Belongs to the SFTPA family. Phagosome;Pertussis;Toll Like Receptor 4 (TLR4) Cascade;Toll Like Receptor TLR1:TLR2 Cascade;Signal regulatory protein family interactions;Surfactant metabolism;Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5);Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4);Regulation of TLR by endogenous ligand PE1 10 +NX_Q8IWL3 Iron-sulfur cluster co-chaperone protein HscB 235 27422 7.59 0 Nucleoplasm;Cytosol;Cytoplasm;Mitochondrion NA Acts as a co-chaperone in iron-sulfur cluster assembly in both mitochondria and the cytoplasm (PubMed:20668094, PubMed:29309586). Required for incorporation of iron-sulfur clusters into SDHB, the iron-sulfur protein subunit of succinate dehydrogenase that is involved in complex II of the mitochondrial electron transport chain (PubMed:26749241). Recruited to SDHB by interaction with SDHAF1 which first binds SDHB and then recruits the iron-sulfur transfer complex formed by HSC20, HSPA9 and ISCU through direct binding to HSC20 (PubMed:26749241). Also mediates complex formation between components of the cytosolic iron-sulfur biogenesis pathway and the CIA targeting complex composed of CIAO1, DIPK1B/FAM69B and MMS19 by binding directly to the scaffold protein ISCU and to CIAO1 (PubMed:29309586). This facilitates iron-sulfur cluster insertion into a number of cytoplasmic and nuclear proteins including POLD1, ELP3, DPYD and PPAT (PubMed:29309586). NA Belongs to the HscB family. Cofactor biosynthesis; iron-sulfur cluster biosynthesis.;Mitochondrial protein import;Mitochondrial iron-sulfur cluster biogenesis PE1 22 +NX_Q8IWL8 Saitohin 128 13652 4.72 0 Cytoplasm;Nucleus NA NA NA NA NA PE1 17 +NX_Q8IWN6 Protein FAM223A 122 13808 9.87 0 NA NA NA NA Belongs to the FAM223 family. NA PE2 X +NX_Q8IWN7 Retinitis pigmentosa 1-like 1 protein 2400 252289 4.41 0 Photoreceptor outer segment;Cilium axoneme Occult macular dystrophy Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity). NA NA NA PE1 8 +NX_Q8IWP9 Coiled-coil domain-containing protein 28A 274 30367 9.32 0 Nucleoplasm;Cell membrane NA NA NA NA NA PE1 6 +NX_Q8IWQ3 Serine/threonine-protein kinase BRSK2 736 81633 8.97 0 Golgi apparatus;Endoplasmic reticulum;Perinuclear region;Centrosome NA Serine/threonine-protein kinase that plays a key role in polarization of neurons and axonogenesis, cell cycle progress and insulin secretion. Phosphorylates CDK16, CDC25C, MAPT/TAU, PAK1 and WEE1. Following phosphorylation and activation by STK11/LKB1, acts as a key regulator of polarization of cortical neurons, probably by mediating phosphorylation of microtubule-associated proteins such as MAPT/TAU at 'Thr-529' and 'Ser-579'. Also regulates neuron polarization by mediating phosphorylation of WEE1 at 'Ser-642' in postmitotic neurons, leading to down-regulate WEE1 activity in polarized neurons. Plays a role in the regulation of the mitotic cell cycle progress and the onset of mitosis. Plays a role in the regulation of insulin secretion in response to elevated glucose levels, probably via phosphorylation of CDK16 and PAK1. While BRSK2 phosphorylated at Thr-174 can inhibit insulin secretion (PubMed:22798068), BRSK2 phosphorylated at Thr-260 can promote insulin secretion (PubMed:22669945). Regulates reorganization of the actin cytoskeleton. May play a role in the apoptotic response triggered by endoplasmic reticulum (ER) stress. Polyubiquitinated by the APC complex in conjunction with FZR1, leading to its proteasomal degradation. Targeted for proteasomal degradation by interaction with COPS5. BRSK2 levels change during the cell cycle. BRSK2 levels are low at the G1/S boundary and gradually increase as cells progress into G2 phase. BRSK2 levels decrease rapidly at the end of mitosis.;Phosphorylated at Thr-174 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Not phosphorylated at Thr-174 by CaMKK2. In contrast, it is phosphorylated and activated by CaMKK1. May be inactivated via dephosphorylation of Thr-174 by PP2C. Phosphorylated at Thr-260 by PKA. Phosphorylation at Thr-260 by PKA was not observed in another study (PubMed:18339622), but this may reflect differences in the experimental approach. Phosphorylation at Thr-260 seems to play a role in the regulation of insulin secretion (PubMed:22669945).;BRSK2 is phosphorylated by CAMKK2 Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily. NA PE1 11 +NX_Q8IWR0 Zinc finger CCCH domain-containing protein 7A 971 110538 7 0 Cytosol;Nucleus NA May be a specific regulator of miRNA biogenesis. Binds to microRNAs MIR7-1, MIR16-2 and MIR29A hairpins recognizing the 3'-ATA(A/T)-5' motif in the apical loop. NA NA NA PE1 16 +NX_Q8IWR1 Tripartite motif-containing protein 59 403 47114 6.36 1 Endoplasmic reticulum membrane NA May serve as a multifunctional regulator for innate immune signaling pathways. NA Belongs to the TRIM/RBCC family. NA PE1 3 +NX_Q8IWS0 PHD finger protein 6 365 41290 8.97 0 Kinetochore;Nucleoplasm;Nucleus;Nucleolus Boerjeson-Forssman-Lehmann syndrome Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription. NA NA NA PE1 X +NX_Q8IWT0 Protein archease 167 19491 4.39 0 Cell membrane NA Component of the tRNA-splicing ligase complex required to facilitate the enzymatic turnover of catalytic subunit RTCB. Together with DDX1, acts by facilitating the guanylylation of RTCB, a key intermediate step in tRNA ligation. NA Belongs to the archease family. tRNA processing in the nucleus PE1 1 +NX_Q8IWT1 Sodium channel subunit beta-4 228 24969 6.9 1 Cell membrane Atrial fibrillation, familial, 17;Long QT syndrome 10 Modulates channel gating kinetics. Causes negative shifts in the voltage dependence of activation of certain alpha sodium channels, but does not affect the voltage dependence of inactivation. Modulates the susceptibility of the sodium channel to inhibition by toxic peptides from spider, scorpion, wasp and sea anemone venom. Contains an interchain disulfide bond with SCN2A.;N-glycosylated. Belongs to the sodium channel auxiliary subunit SCN4B (TC 8.A.17) family. Interaction between L1 and Ankyrins;Phase 0 - rapid depolarisation PE1 11 +NX_Q8IWT3 Cullin-9 2517 281229 5.3 0 Cytoplasm;Cytosol NA Core component of a Cul9-RING ubiquitin-protein ligase complex, a complex that mediates ubiquitination and subsequent degradation of BIRC5 and is required to maintain microtubule dynamics and genome integrity. Acts downstream of the 3M complex, which inhibits CUL9 activity, leading to prevent ubiquitination of BIRC5 (PubMed:24793696). Cytoplasmic anchor protein in p53/TP53-associated protein complex. Regulates the subcellular localization of p53/TP53 and subsequent function (PubMed:12526791, PubMed:17332328). Neddylated.;In vitro, self-ubiquitination in the presence of E1, E2 and ubiquitin. Belongs to the cullin family. Neddylation PE1 6 +NX_Q8IWT6 Volume-regulated anion channel subunit LRRC8A 810 94199 8.15 4 Cell membrane Agammaglobulinemia 5, autosomal dominant Essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24725410, PubMed:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731, PubMed:29769723). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24725410, PubMed:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731). Mediates efflux of amino acids, such as aspartate and glutamate, in response to osmotic stress (PubMed:28193731). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed:26530471). Required for in vivo channel activity, together with at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658, PubMed:28193731). Can form functional channels by itself (in vitro) (PubMed:26824658). Involved in B-cell development: required for the pro-B cell to pre-B cell transition (PubMed:14660746). Also required for T-cell development (By similarity). May play a role in lysosome homeostasis (PubMed:31270356). N-glycosylated. Belongs to the LRRC8 family. Miscellaneous transport and binding events PE1 9 +NX_Q8IWU2 Serine/threonine-protein kinase LMTK2 1503 164900 4.35 2 Nucleus speckle;Cell membrane;Centriolar satellite;Membrane;Cytosol NA Phosphorylates PPP1C, phosphorylase b and CFTR. Autophosphorylated. Phosphorylated (By similarity). Belongs to the protein kinase superfamily. Tyr protein kinase family. NA PE1 7 +NX_Q8IWU4 Zinc transporter 8 369 40755 6.11 6 Endoplasmic reticulum;Secretory vesicle membrane;Cell membrane NA Facilitates the accumulation of zinc from the cytoplasm into intracellular vesicles, being a zinc-efflux transporter. May be a major component for providing zinc to insulin maturation and/or storage processes in insulin-secreting pancreatic beta-cells. NA Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. Insulin processing;Zinc efflux and compartmentalization by the SLC30 family PE1 8 +NX_Q8IWU5 Extracellular sulfatase Sulf-2 870 100455 9.3 0 Cell surface;Endoplasmic reticulum;Golgi stack NA Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity. It can remove sulfate from the C-6 position of glucosamine within specific subregions of intact heparin. The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. Belongs to the sulfatase family. NA PE1 20 +NX_Q8IWU6 Extracellular sulfatase Sulf-1 871 101027 9.23 0 Cell surface;Endoplasmic reticulum;Golgi stack NA Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity. It can remove sulfate from the C-6 position of glucosamine within specific subregions of intact heparin. Diminishes HSPG (heparan sulfate proteoglycans) sulfation, inhibits signaling by heparin-dependent growth factors, diminishes proliferation, and facilitates apoptosis in response to exogenous stimulation. The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. Belongs to the sulfatase family. NA PE1 8 +NX_Q8IWU9 Tryptophan 5-hydroxylase 2 490 56057 6.03 0 NA Attention deficit-hyperactivity disorder 7;Major depressive disorder NA NA Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. Aromatic compound metabolism; serotonin biosynthesis; serotonin from L-tryptophan: step 1/2.;Tryptophan metabolism;Metabolic pathways;Serotonin and melatonin biosynthesis PE1 12 +NX_Q8IWV1 Lymphocyte transmembrane adapter 1 398 44085 4.85 1 Golgi apparatus;Cytosol;Cell membrane NA Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells and BCR (B-cell antigen receptor)-mediated signaling in B-cells. Phosphorylated on tyrosines by Syk, Lck or ZAP70 upon TCR or BCR activation; which leads to the recruitment of GRB2, PIK3R1 and GRAP2. NA NA PE1 1 +NX_Q8IWV2 Contactin-4 1026 113454 7.24 0 Secreted;Cell membrane NA Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis. NA Belongs to the immunoglobulin superfamily. Contactin family. Post-translational modification: synthesis of GPI-anchored proteins PE1 3 +NX_Q8IWV7 E3 ubiquitin-protein ligase UBR1 1749 200211 5.67 0 Nucleoplasm;Cytosol;Cytoplasmic vesicle Johanson-Blizzard syndrome E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. May be involved in pancreatic homeostasis. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth. NA Belongs to the UBR1 family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 15 +NX_Q8IWV8 E3 ubiquitin-protein ligase UBR2 1755 200538 5.84 0 Nucleoplasm;Nucleus;Cell membrane NA E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. Plays a critical role in chromatin inactivation and chromosome-wide transcriptional silencing during meiosis via ubiquitination of histone H2A. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth. Required for spermatogenesis, promotes, with Tex19.1, SPO11-dependent recombination foci to accumulate and drive robust homologous chromosome synapsis (By similarity). Polyubiquitinates LINE-1 retrotransposon encoded, LIRE1, which induces degradation, inhibiting LINE-1 retranstoposon mobilization (By similarity). NA Belongs to the UBR1 family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 6 +NX_Q8IWW6 Rho GTPase-activating protein 12 846 96254 7.29 0 NA NA GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. NA NA Rho GTPase cycle PE1 10 +NX_Q8IWW8 Hydroxyacid-oxoacid transhydrogenase, mitochondrial 467 50308 7.65 0 Cytoplasmic vesicle;Mitochondrion NA Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG). D,L-3-hydroxyisobutyrate and L-3-hydroxybutyrate (L-3-OHB) are also substrates for HOT with 10-fold lower activities. NA Belongs to the iron-containing alcohol dehydrogenase family. Hydroxyacid-oxoacid transhydrogenase subfamily. Interconversion of 2-oxoglutarate and 2-hydroxyglutarate PE1 8 +NX_Q8IWX5 Sphingosine-1-phosphate phosphatase 2 399 44741 9.17 9 Endoplasmic reticulum membrane NA Has specific phosphohydrolase activity towards sphingoid base 1-phosphates. Has high phosphohydrolase activity against dihydrosphingosine-1-phosphate and sphingosine-1-phosphate (S1P) in vitro (PubMed:12411432). Sphingosine-1-phosphate phosphatase activity is needed for efficient recycling of sphingosine into the sphingolipid synthesis pathway (By similarity). May play a role in attenuating intracellular sphingosine 1-phosphate (S1P) signaling. May play a role in pro-inflammatory signaling (PubMed:17113265). Plays a role in the regulation of pancreatic islet beta-cell endoplasmic reticulum stress and proliferation (By similarity). NA Belongs to the type 2 lipid phosphate phosphatase family. Sphingolipid metabolism;Sphingolipid de novo biosynthesis PE1 2 +NX_Q8IWX7 Protein unc-45 homolog B 931 103733 8.03 0 Cytosol Cataract 43 Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain. Plays a role in sarcomere formation during muscle cell development. Is necessary for normal early lens development. NA NA NA PE1 17 +NX_Q8IWX8 Calcium homeostasis endoplasmic reticulum protein 916 103702 9.15 0 Endoplasmic reticulum;Cytoplasm;Perinuclear region NA Involved in calcium homeostasis, growth and proliferation. NA NA Spliceosome;mRNA Splicing - Major Pathway PE1 19 +NX_Q8IWY4 Signal peptide, CUB and EGF-like domain-containing protein 1 988 107910 6.42 0 Secreted;Cell membrane NA Could function as an adhesive molecule and its matrix bound and soluble fragments may play a critical role in vascular biology. N-glycosylated.;Could be proteolytically cleaved to release a smaller active fragment. NA Degradation of the extracellular matrix PE1 22 +NX_Q8IWY8 Zinc finger and SCAN domain-containing protein 29 852 96719 6.55 0 Nucleoplasm;Cytoskeleton;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 15 +NX_Q8IWY9 Codanin-1 1227 134120 6.35 2 Cytoplasm;Cell membrane;Membrane;Cytosol;Nucleus Anemia, congenital dyserythropoietic, 1A May act as a negative regulator of ASF1 in chromatin assembly. NA NA NA PE1 15 +NX_Q8IWZ3 Ankyrin repeat and KH domain-containing protein 1 2542 269458 5.46 0 Cytoplasm NA May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells.;May possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases. NA Belongs to the mask family. NA PE1 5 +NX_Q8IWZ4 Tripartite motif-containing protein 48 208 24498 8.69 0 NA NA NA NA Belongs to the TRIM/RBCC family. Interferon gamma signaling PE2 11 +NX_Q8IWZ5 Tripartite motif-containing protein 42 723 82745 8.3 0 Nucleoplasm;Mitochondrion NA NA NA Belongs to the TRIM/RBCC family. NA PE1 3 +NX_Q8IWZ6 Bardet-Biedl syndrome 7 protein 715 80353 5.7 0 Cilium membrane;Cytoplasm;Centriolar satellite;Cilium basal body Bardet-Biedl syndrome 7 The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. NA NA BBSome-mediated cargo-targeting to cilium PE1 4 +NX_Q8IWZ8 SURP and G-patch domain-containing protein 1 645 72471 7.2 0 Nucleoplasm;Nucleus NA Plays a role in pre-mRNA splicing. NA NA mRNA Splicing - Major Pathway PE1 19 +NX_Q8IX01 SURP and G-patch domain-containing protein 2 1082 120207 6.92 0 Nucleoplasm;Nucleus NA May play a role in mRNA splicing. NA NA NA PE1 19 +NX_Q8IX03 Protein KIBRA 1113 125301 5.65 0 Golgi apparatus;Cytoplasm;Ruffle membrane;Perinuclear region;Nucleus NA Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with NF2 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. Acts as a transcriptional coactivator of ESR1 which plays an essential role in DYNLL1-mediated ESR1 transactivation. Regulates collagen-stimulated activation of the ERK/MAPK cascade. Modulates directional migration of podocytes. Acts as a substrate for PRKCZ. Plays a role in cognition and memory performance. Phosphorylation at Ser-542 and Ser-931 by CDK1 in response to spindle damage stress regulates mitotic exit, these two sites are dephosphorylated by CDC14B. Belongs to the WWC family. KIBRA subfamily. Signaling by Hippo;NOTCH3 Intracellular Domain Regulates Transcription PE1 5 +NX_Q8IX04 Ubiquitin-conjugating enzyme E2 variant 3 471 52264 6.61 0 Nucleoplasm;Cytosol NA Possible negative regulator of polyubiquitination. NA In the N-terminal section; belongs to the ubiquitin-conjugating enzyme family. UEV subfamily.;In the C-terminal section; belongs to the LDH/MDH superfamily. NA PE1 11 +NX_Q8IX05 CD302 antigen 232 26183 4.45 1 Membrane;Filopodium;Microvillus;Cell cortex NA Potential multifunctional C-type lectin receptor that may play roles in endocytosis and phagocytosis as well as in cell adhesion and migration. May be heterogeneously N-glycosylated in some cell types. NA NA PE1 2 +NX_Q8IX06 Putative exonuclease GOR 675 73855 9.33 0 Cytoplasm;Nucleus NA NA NA Belongs to the REXO1/REXO3 family. Ribosome biogenesis in eukaryotes PE5 8 +NX_Q8IX07 Zinc finger protein ZFPM1 1006 104888 8.14 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytosol NA Transcription regulator that plays an essential role in erythroid and megakaryocytic cell differentiation. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA1, GATA2 and GATA3. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. The heterodimer formed with GATA proteins is essential to activate expression of genes such as NFE2, ITGA2B, alpha- and beta-globin, while it represses expression of KLF1. May be involved in regulation of some genes in gonads. May also be involved in cardiac development, in a non-redundant way with ZFPM2/FOG2 (By similarity). NA Belongs to the FOG (Friend of GATA) family. Factors involved in megakaryocyte development and platelet production;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 16 +NX_Q8IX12 Cell division cycle and apoptosis regulator protein 1 1150 132821 5.57 0 Perinuclear region NA Associates with components of the Mediator and p160 coactivator complexes that play a role as intermediaries transducing regulatory signals from upstream transcriptional activator proteins to basal transcription machinery at the core promoter. Recruited to endogenous nuclear receptor target genes in response to the appropriate hormone. Also functions as a p53 coactivator. May thus play an important role in transcriptional regulation (By similarity). May be involved in apoptosis signaling in the presence of the reinoid CD437. Apoptosis induction involves sequestration of 14-3-3 protein(s) and mediated altered expression of multiple cell cycle regulatory genes including MYC, CCNB1 and CDKN1A. Plays a role in cell cycle progression and/or cell proliferation (PubMed:12816952). In association with CALCOCO1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781). Can act as a both a coactivator and corepressor of AR-mediated transcription. Contributes to chromatin looping and AR transcription complex assembly by stabilizing AR-GATA2 association on chromatin and facilitating MED1 and RNA polymerase II recruitment to AR-binding sites. May play an important role in the growth and tumorigenesis of prostate cancer cells (PubMed:23887938). NA NA mRNA Splicing - Major Pathway PE1 10 +NX_Q8IX15 Homeobox and leucine zipper protein Homez 550 61240 4.86 0 Nucleoplasm;Nucleus;Nucleolus NA May function as a transcriptional regulator. NA NA NA PE1 14 +NX_Q8IX18 Probable ATP-dependent RNA helicase DHX40 779 88560 8.93 0 Nucleoplasm NA Probable ATP-dependent RNA helicase. NA Belongs to the DEAD box helicase family. DEAH subfamily. NA PE1 17 +NX_Q8IX19 Mast cell-expressed membrane protein 1 187 21229 9.03 1 Membrane NA NA NA NA Neutrophil degranulation PE1 19 +NX_Q8IX21 SMC5-SMC6 complex localization factor protein 2 1173 131873 9.09 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance (PubMed:25931565). The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication-coupled interstrand cross-links (ICL) and DNA double-strand breaks (DSBs) sites on chromatin during DNA repair in response to stalled replication forks (PubMed:25931565). Promotes the recruitment of the SMC5-SMC6 complex to DNA lesions (PubMed:25931565). NA Belongs to the FAM178 family. NA PE1 10 +NX_Q8IX29 F-box only protein 16 292 34588 10.05 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Cell membrane NA Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. NA NA NA PE1 8 +NX_Q8IX30 Signal peptide, CUB and EGF-like domain-containing protein 3 993 109282 7.85 0 Cell surface;Secreted;Cell membrane NA Binds to TGFBR2 and activates TGFB signaling. In lung cancer cells, could serve as an endogenous autocrine and paracrine ligand of TGFBR2, which could regulate TGFBR2 signaling and hence modulate epithelial-mesenchymal transition and cancer progression. Proteolytic cleavage produces a CUB-containing C-terminal fragment that retains the ability to bind to TGFBR2. This reaction is catalyzed in vitro by MMP2 and, to a lesser extent, by MMP9.;N-glycosylated. NA Degradation of the extracellular matrix PE1 6 +NX_Q8IX90 Spindle and kinetochore-associated protein 3 412 46359 4.99 0 Centrosome;Cytosol;Spindle;Kinetochore;Cytoskeleton NA Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation (PubMed:19289083, PubMed:19360002, PubMed:23085020). The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies (PubMed:19289083, PubMed:19360002). The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner (PubMed:19289083). In the complex, it mediates the microtubule-stimulated oligomerization (PubMed:19289083). Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules (PubMed:23085020). NA Belongs to the SKA3 family. NA PE1 13 +NX_Q8IX94 cTAGE family member 4 777 87989 5.18 1 Membrane NA Tumor-associated antigen. NA Belongs to the cTAGE family. NA PE2 7 +NX_Q8IX95 Putative cTAGE family member 3 158 18015 4.85 0 NA NA Tumor-associated antigen. NA Belongs to the cTAGE family. NA PE5 13 +NX_Q8IXA5 Sperm acrosome membrane-associated protein 3 215 23431 8.27 1 Acrosome membrane;Secreted NA Sperm surface membrane protein that may be involved in sperm-egg plasma membrane adhesion and fusion during fertilization. It could be a potential receptor for the egg oligosaccharide residue N-acetylglucosamine, which is present in the extracellular matrix over the egg plasma membrane. The processed form has no detectable bacteriolytic activity in vitro. The processed form derives from the membrane form by proteolytic processing. Belongs to the glycosyl hydrolase 22 family. NA PE1 17 +NX_Q8IXB1 DnaJ homolog subfamily C member 10 793 91080 6.78 0 Endoplasmic reticulum lumen NA Endoplasmic reticulum disulfide reductase involved both in the correct folding of proteins and degradation of misfolded proteins. Required for efficient folding of proteins in the endoplasmic reticulum by catalyzing the removal of non-native disulfide bonds formed during the folding of proteins, such as LDLR. Also involved in endoplasmic reticulum-associated degradation (ERAD) by reducing incorrect disulfide bonds in misfolded glycoproteins recognized by EDEM1. Interaction with HSPA5 is required its activity, not for the disulfide reductase activity, but to facilitate the release of DNAJC10 from its substrate. Promotes apoptotic signaling pathway in response to endoplasmic reticulum stress. NA NA Protein processing in endoplasmic reticulum PE1 2 +NX_Q8IXB3 Trafficking regulator of GLUT4 1 177 19254 7.79 2 Endomembrane system;Perinuclear region;Cell membrane NA Regulates insulin-mediated adipose tissue glucose uptake and transport by modulation of SLC2A4 recycling. Not required for SLC2A4 membrane fusion upon an initial stimulus, but rather is necessary for proper protein recycling during prolonged insulin stimulation. NA Belongs to the CD225/Dispanin family. NA PE1 17 +NX_Q8IXE1 Olfactory receptor 4N5 308 34696 7.99 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 14 +NX_Q8IXF0 Neuronal PAS domain-containing protein 3 933 100805 6.16 0 Nucleoplasm;Nucleus NA May play a broad role in neurogenesis. May control regulatory pathways relevant to schizophrenia and to psychotic illness (By similarity). NA NA NA PE1 14 +NX_Q8IXF9 Aquaporin-12A 295 31475 8.49 6 Membrane NA Aquaporins facilitate the transport of water and small neutral solutes across cell membranes. NA Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily. Passive transport by Aquaporins PE2 2 +NX_Q8IXH6 Tumor protein p53-inducible nuclear protein 2 220 23980 6.33 0 Cytosol;Autophagosome;PML body;Nucleus NA Dual regulator of transcription and autophagy. Positively regulates autophagy and is required for autophagosome formation and processing. May act as a scaffold protein that recruits MAP1LC3A, GABARAP and GABARAPL2 and brings them to the autophagosome membrane by interacting with VMP1 where, in cooperation with the BECN1-PI3-kinase class III complex, they trigger autophagosome development. Acts as a transcriptional activator of THRA. NA NA NA PE1 20 +NX_Q8IXH7 Negative elongation factor C/D 590 66247 4.98 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasmic vesicle NA Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II (PubMed:12612062). The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex (PubMed:10199401).;(Microbial infection) The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II. NA Belongs to the NELF-D family. Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;TP53 Regulates Transcription of DNA Repair Genes PE1 20 +NX_Q8IXH8 Cadherin-like protein 26 832 92416 4.8 1 Cytoskeleton;Cell membrane NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Ligand for integrins alpha-E/beta-7, ITGAE:ITGAB7, alpha-4/beta-7, ITGA4:ITGAB7 and alpha-4/beta-1, ITGA4:ITGAB1 through which modulates CD4(+) T cells activation (PubMed:28051089). N-glycosylated. NA NA PE1 20 +NX_Q8IXI1 Mitochondrial Rho GTPase 2 618 68118 5.55 1 Mitochondrion outer membrane;Nucleoplasm;Mitochondrion NA Mitochondrial GTPase involved in mitochondrial trafficking. Probably involved in control of anterograde transport of mitochondria and their subcellular distribution (By similarity). NA Belongs to the mitochondrial Rho GTPase family. Rho GTPase cycle PE1 16 +NX_Q8IXI2 Mitochondrial Rho GTPase 1 618 70784 5.87 1 Mitochondrion outer membrane NA Mitochondrial GTPase involved in mitochondrial trafficking. Probably involved in control of anterograde transport of mitochondria and their subcellular distribution. Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. Belongs to the mitochondrial Rho GTPase family. Rho GTPase cycle;Ub-specific processing proteases PE1 17 +NX_Q8IXJ6 NAD-dependent protein deacetylase sirtuin-2 389 43182 5.22 0 Cytoplasm;Nucleus;Centriole;Perikaryon;Growth cone;Cell projection;Nucleolus;Chromosome;Nucleoplasm;Centrosome;Myelin membrane;Cytosol;Spindle;Perinuclear region;Midbody;Cytoskeleton NA Lacks deacetylation activity.;Deacetylates EP300, alpha-tubulin and histone H3 and H4.;NAD-dependent protein deacetylase, which deacetylates internal lysines on histone and alpha-tubulin as well as many other proteins such as key transcription factors (PubMed:24177535, PubMed:12620231, PubMed:16648462, PubMed:18249187, PubMed:18332217, PubMed:18995842, PubMed:20587414, PubMed:21081649, PubMed:20543840, PubMed:22014574, PubMed:21726808, PubMed:21949390, PubMed:22771473, PubMed:23468428, PubMed:23908241, PubMed:24940000, PubMed:24769394, PubMed:24681946). Participates in the modulation of multiple and diverse biological processes such as cell cycle control, genomic integrity, microtubule dynamics, cell differentiation, metabolic networks, and autophagy. Plays a major role in the control of cell cycle progression and genomic stability. Functions in the antephase checkpoint preventing precocious mitotic entry in response to microtubule stress agents, and hence allowing proper inheritance of chromosomes. Positively regulates the anaphase promoting complex/cyclosome (APC/C) ubiquitin ligase complex activity by deacetylating CDC20 and FZR1, then allowing progression through mitosis. Associates both with chromatin at transcriptional start sites (TSSs) and enhancers of active genes. Plays a role in cell cycle and chromatin compaction through epigenetic modulation of the regulation of histone H4 'Lys-20' methylation (H4K20me1) during early mitosis. Specifically deacetylates histone H4 at 'Lys-16' (H4K16ac) between the G2/M transition and metaphase enabling H4K20me1 deposition by KMT5A leading to ulterior levels of H4K20me2 and H4K20me3 deposition throughout cell cycle, and mitotic S-phase progression (PubMed:23468428). Deacetylates KMT5A modulating KMT5A chromatin localization during the mitotic stress response (PubMed:23468428). Deacetylates also histone H3 at 'Lys-57' (H3K56ac) during the mitotic G2/M transition. Upon bacterium Listeria monocytogenes infection, deacetylates 'Lys-18' of histone H3 in a receptor tyrosine kinase MET- and PI3K/Akt-dependent manner, thereby inhibiting transcriptional activity and promoting late stages of listeria infection (PubMed:23908241). During oocyte meiosis progression, may deacetylate histone H4 at 'Lys-16' (H4K16ac) and alpha-tubulin, regulating spindle assembly and chromosome alignment by influencing microtubule dynamics and kinetochore function. Deacetylates histone H4 at 'Lys-16' (H4K16ac) at the VEGFA promoter and thereby contributes to regulate expression of VEGFA, a key regulator of angiogenesis (PubMed:24940000). Deacetylates alpha-tubulin at 'Lys-40' and hence controls neuronal motility, oligodendroglial cell arbor projection processes and proliferation of non-neuronal cells. Phosphorylation at Ser-368 by a G1/S-specific cyclin E-CDK2 complex inactivates SIRT2-mediated alpha-tubulin deacetylation, negatively regulating cell adhesion, cell migration and neurite outgrowth during neuronal differentiation. Deacetylates PARD3 and participates in the regulation of Schwann cell peripheral myelination formation during early postnatal development and during postinjury remyelination. Involved in several cellular metabolic pathways. Plays a role in the regulation of blood glucose homeostasis by deacetylating and stabilizing phosphoenolpyruvate carboxykinase PCK1 activity in response to low nutrient availability. Acts as a key regulator in the pentose phosphate pathway (PPP) by deacetylating and activating the glucose-6-phosphate G6PD enzyme, and therefore, stimulates the production of cytosolic NADPH to counteract oxidative damage. Maintains energy homeostasis in response to nutrient deprivation as well as energy expenditure by inhibiting adipogenesis and promoting lipolysis. Attenuates adipocyte differentiation by deacetylating and promoting FOXO1 interaction to PPARG and subsequent repression of PPARG-dependent transcriptional activity. Plays a role in the regulation of lysosome-mediated degradation of protein aggregates by autophagy in neuronal cells. Deacetylates FOXO1 in response to oxidative stress or serum deprivation, thereby negatively regulating FOXO1-mediated autophagy (PubMed:20543840). Deacetylates a broad range of transcription factors and co-regulators regulating target gene expression. Deacetylates transcriptional factor FOXO3 stimulating the ubiquitin ligase SCF(SKP2)-mediated FOXO3 ubiquitination and degradation (By similarity). Deacetylates HIF1A and therefore promotes HIF1A degradation and inhibition of HIF1A transcriptional activity in tumor cells in response to hypoxia (PubMed:24681946). Deacetylates RELA in the cytoplasm inhibiting NF-kappaB-dependent transcription activation upon TNF-alpha stimulation. Inhibits transcriptional activation by deacetylating p53/TP53 and EP300 (PubMed:18249187). Deacetylates also EIF5A (PubMed:22771473). Functions as a negative regulator on oxidative stress-tolerance in response to anoxia-reoxygenation conditions. Plays a role as tumor suppressor (PubMed:22014574).;Deacetylates EP300, alpha-tubulin and histone H3 and H4. Ubiquitinated.;Phosphorylated at phosphoserine and phosphothreonine. Phosphorylated at Ser-368 by a mitotic kinase CDK1/cyclin B at the G2/M transition; phosphorylation regulates the delay in cell-cycle progression. Phosphorylated at Ser-368 by a mitotic kinase G1/S-specific cyclin E/Cdk2 complex; phosphorylation inactivates SIRT2-mediated alpha-tubulin deacetylation and thereby negatively regulates cell adhesion, cell migration and neurite outgrowth during neuronal differentiation. Phosphorylated by cyclin A/Cdk2 and p35-Cdk5 complexes and to a lesser extent by the cyclin D3/Cdk4 and cyclin B/Cdk1, in vitro. Dephosphorylated at Ser-368 by CDC14A and CDC14B around early anaphase.;Acetylated by EP300; acetylation leads both to the decreased of SIRT2-mediated alpha-tubulin deacetylase activity and SIRT2-mediated down-regulation of TP53 transcriptional activity. Belongs to the sirtuin family. Class I subfamily. NA PE1 19 +NX_Q8IXJ9 Polycomb group protein ASXL1 1541 165432 5.85 0 Nucleoplasm;Nucleolus;Nucleus Bohring-Opitz syndrome;Myelodysplastic syndrome Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG) (PubMed:16606617). Acts as coactivator of RARA and RXRA through association with NCOA1 (PubMed:16606617). Acts as corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (PubMed:20436459). Acts as a sensor of N(6)-methyladenosine methylation on DNA (m6A): recognizes and binds m6A DNA, leading to its ubiquitination and degradation by TRIP12, thereby inactivating the PR-DUB complex and regulating Polycomb silencing (PubMed:30982744). Ubiquitinated by TRIP12, leading to its subsequent degradation following binding N(6)-methyladenosine methylated DNA (m6A). Belongs to the Asx family. UCH proteinases PE1 20 +NX_Q8IXK0 Polyhomeotic-like protein 2 858 90713 8.93 0 Nucleoplasm;Nucleus NA Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. NA NA SUMOylation of DNA damage response and repair proteins;Oxidative Stress Induced Senescence;SUMOylation of RNA binding proteins;SUMOylation of chromatin organization proteins;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known;Regulation of PTEN gene transcription;SUMOylation of transcription cofactors;SUMOylation of DNA methylation proteins PE1 1 +NX_Q8IXK2 Polypeptide N-acetylgalactosaminyltransferase 12 581 66938 6.35 1 Golgi apparatus membrane Colorectal cancer 1 Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward non-glycosylated peptides such as Muc5AC, Muc1a and EA2, and no detectable activity with Muc2 and Muc7. Displays enzymatic activity toward the Gal-NAc-Muc5AC glycopeptide, but no detectable activity to mono-GalNAc-glycosylated Muc1a, Muc2, Muc7 and EA2. May play an important role in the initial step of mucin-type oligosaccharide biosynthesis in digestive organs. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins;Defective GALNT12 causes colorectal cancer 1 (CRCS1) PE1 9 +NX_Q8IXL6 Extracellular serine/threonine protein kinase FAM20C 584 66234 7.65 0 Golgi apparatus;Nucleoplasm;Secreted Raine syndrome Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth (PubMed:22582013, PubMed:23754375, PubMed:25789606). Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome (PubMed:26091039). Mainly phosphorylates proteins within the Ser-x-Glu/pSer motif, but also displays a broader substrate specificity (PubMed:26091039). Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1 (PubMed:22582013, PubMed:25789606). In addition to its role in biomineralization, also plays a role in lipid homeostasis, wound healing and cell migration and adhesion (PubMed:26091039). Autophosphorylated.;N-glycosylation is required for folding. Belongs to the FAM20 family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 7 +NX_Q8IXL7 Methionine-R-sulfoxide reductase B3 192 20702 7.01 0 Endoplasmic reticulum;Mitochondrion Deafness, autosomal recessive, 74 Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine.;Is essential for hearing. NA Belongs to the MsrB Met sulfoxide reductase family. Protein repair PE1 12 +NX_Q8IXL9 IQ domain-containing protein F2 164 19627 10.57 0 NA NA NA NA NA NA PE1 3 +NX_Q8IXM2 Chromatin complexes subunit BAP18 172 17900 6.74 0 Nucleoplasm;Cytosol;Nucleus NA Component of chromatin complexes such as the MLL1/MLL and NURF complexes. NA NA NA PE1 17 +NX_Q8IXM3 39S ribosomal protein L41, mitochondrial 137 15383 9.59 0 Mitochondrion NA Component of the mitochondrial ribosome large subunit (PubMed:28892042, PubMed:25838379, PubMed:25278503). Also involved in apoptosis and cell cycle (PubMed:16024796, PubMed:16256947). Enhances p53/TP53 stability, thereby contributing to p53/TP53-induced apoptosis in response to growth-inhibitory condition. Enhances p53/TP53 translocation to the mitochondria. Has the ability to arrest the cell cycle at the G1 phase, possibly by stabilizing the CDKN1A and CDKN1B (p27Kip1) proteins (PubMed:16024796). NA Belongs to the mitochondrion-specific ribosomal protein mL41 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 9 +NX_Q8IXM6 Nurim 262 29379 8.82 6 Nucleus inner membrane;Nucleus membrane NA NA NA Belongs to the nurim family. NA PE1 6 +NX_Q8IXM7 Outer dense fiber protein 3-like protein 1 274 31065 9.6 0 NA NA NA NA Belongs to the ODF3 family. NA PE1 15 +NX_Q8IXN7 N-acetylaspartylglutamate synthase A 391 42864 6.22 0 Cytoplasm;Nucleolus NA Catalyzes the synthesis of N-acetyl-L-aspartyl-L-glutamate (NAAG) and N-acetyl-L-aspartyl-L-glutamyl-L-glutamate. NA Belongs to the RimK family. Glutamate and glutamine metabolism PE1 1 +NX_Q8IXP5 Uncharacterized protein C11orf53 236 25393 4.7 0 NA NA NA NA NA NA PE2 11 +NX_Q8IXQ3 Uncharacterized protein C9orf40 194 21063 4.89 0 Cytoplasm;Nucleoplasm;Centrosome;Cytosol NA NA NA NA NA PE1 9 +NX_Q8IXQ4 GPALPP motifs-containing protein 1 340 38142 5.25 0 Nucleoplasm;Nucleolus NA NA NA NA NA PE1 13 +NX_Q8IXQ5 Kelch-like protein 7 586 65992 6.08 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus Retinitis pigmentosa 42;Crisponi/Cold-induced sweating syndrome 3 Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates 'Lys-48'-linked ubiquitination. NA NA Protein modification; protein ubiquitination. PE1 7 +NX_Q8IXQ6 Protein mono-ADP-ribosyltransferase PARP9 854 96343 8.12 0 Nucleoplasm;Cytosol;Mitochondrion;Nucleus NA ADP-ribosyltransferase which, in association with E3 ligase DTX3L, plays a role in DNA damage repair and in immune responses including interferon-mediated antiviral defenses (PubMed:16809771, PubMed:23230272, PubMed:26479788, PubMed:27796300). Within the complex, enhances DTX3L E3 ligase activity which is further enhanced by PARP9 binding to poly(ADP-ribose) (PubMed:28525742). In association with DTX3L and in presence of E1 and E2 enzymes, mediates NAD(+)-dependent mono-ADP-ribosylation of ubiquitin which prevents ubiquitin conjugation to substrates such as histones (PubMed:28525742). During DNA repair, PARP1 recruits PARP9/BAL1-DTX3L complex to DNA damage sites via PARP9 binding to ribosylated PARP1 (PubMed:23230272). Subsequent PARP1-dependent PARP9/BAL1-DTX3L-mediated ubiquitination promotes the rapid and specific recruitment of 53BP1/TP53BP1, UIMC1/RAP80, and BRCA1 to DNA damage sites (PubMed:23230272, PubMed:28525742). In response to DNA damage, PARP9-DTX3L complex is required for efficient non-homologous end joining (NHEJ); the complex function is negatively modulated by PARP9 activity (PubMed:28525742). Dispensable for B-cell receptor (BCR) assembly through V(D)J recombination and class switch recombination (CSR) (By similarity). In macrophages, positively regulates pro-inflammatory cytokines production in response to IFNG stimulation by suppressing PARP14-mediated STAT1 ADP-ribosylation and thus promoting STAT1 phosphorylation (PubMed:27796300). Also suppresses PARP14-mediated STAT6 ADP-ribosylation (PubMed:27796300). ADP-ribosylated by PARP14. NA Nicotinamide salvaging PE1 3 +NX_Q8IXQ8 PDZ domain-containing protein 9 264 29904 8.99 0 NA NA NA NA NA NA PE2 16 +NX_Q8IXQ9 Electron transfer flavoprotein beta subunit lysine methyltransferase 262 29461 6.05 0 Cytoplasm;Mitochondrion matrix NA Protein-lysine methyltransferase that selectively trimethylates the flavoprotein ETFB in mitochondria (PubMed:25023281, PubMed:25416781). Thereby, may negatively regulate the function of ETFB in electron transfer from Acyl-CoA dehydrogenases to the main respiratory chain (PubMed:25416781). NA Belongs to the methyltransferase superfamily. ETFBKMT family. Protein methylation PE1 12 +NX_Q8IXR5 Protein FAM178B 827 93514 5.98 0 Golgi apparatus;Nucleus speckle NA NA NA Belongs to the FAM178 family. NA PE1 2 +NX_Q8IXR9 Uncharacterized protein C12orf56 622 71046 9.33 0 NA NA NA NA NA NA PE2 12 +NX_Q8IXS0 Protein FAM217A 508 57420 8.72 0 NA NA NA NA Belongs to the FAM217 family. NA PE2 6 +NX_Q8IXS2 Dynein regulatory complex subunit 2 484 57297 6.96 0 Flagellum axoneme;Centriolar satellite;Flagellum;Flagellum basal body;Cytoplasmic vesicle Ciliary dyskinesia, primary, 27 Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes (By similarity). Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with DRC1 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules (PubMed:24094744). NA Belongs to the DRC2 family. NA PE1 12 +NX_Q8IXS6 Paralemmin-2 379 42185 5.04 0 Cell membrane NA NA NA Belongs to the paralemmin family. NA PE1 9 +NX_Q8IXS8 Protein FAM126B 530 58647 8.01 0 Nucleoplasm;Cytosol;Cell junction;Cell membrane NA Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. NA Belongs to the FAM126 family. NA PE1 2 +NX_Q8IXT1 DNA damage-induced apoptosis suppressor protein 998 111616 6.8 0 Cytoplasm;Cytosol;Nucleus;Cell membrane NA May be an anti-apoptotic protein involved in DNA repair or cell survival. NA NA NA PE1 11 +NX_Q8IXT2 Doublesex- and mab-3-related transcription factor C2 367 39124 9.18 0 Nucleus NA May be involved in sexual development. NA Belongs to the DMRT family. NA PE1 19 +NX_Q8IXT5 RNA-binding protein 12B 1001 118103 6.34 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 8 +NX_Q8IXU6 Solute carrier family 35 member F2 374 41212 5.86 10 Membrane;Mitochondrion NA Putative solute transporter. NA Belongs to the SLC35F solute transporter family. NA PE1 11 +NX_Q8IXV7 Kelch domain-containing protein 8B 354 37676 8.61 0 Cytoplasm;Cytosol;Midbody Lymphoma, Hodgkin, classic Involved in pinching off the separated nuclei at the cleavage furrow and in cytokinesis (PubMed:20107318). Required for mitotic integrity and maintenance of chromosomal stability. Protects cells against mitotic errors, centrosomal amplification, micronucleus formation and aneuploidy. Plays a key role of midbody function involving abscission of the daughter cells during cytokinesis and appropriate chromosomal and nuclear segregation into the daughter cells (PubMed:22988245, PubMed:23713010). NA NA NA PE1 3 +NX_Q8IXW0 Lamin tail domain-containing protein 2 634 70379 9.12 0 Cytosol NA NA NA NA NA PE1 11 +NX_Q8IXW5 Putative RNA polymerase II subunit B1 CTD phosphatase RPAP2 612 69509 7.86 0 Cytoplasm;Nucleolus;Nucleus;Cytosol NA Protein phosphatase that displays CTD phosphatase activity and regulates transcription of snRNA genes. Recognizes and binds phosphorylated 'Ser-7' of the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and mediates dephosphorylation of 'Ser-5' of the CTD, thereby promoting transcription of snRNA genes. NA Belongs to the RPAP2 family. RNA polymerase II transcribes snRNA genes PE1 1 +NX_Q8IXX5 Transmembrane protein 183A 376 42826 9.28 1 Membrane NA NA NA Belongs to the TMEM183 family. NA PE1 1 +NX_Q8IXY8 Probable inactive peptidyl-prolyl cis-trans isomerase-like 6 311 35228 6.55 0 Golgi apparatus;Nucleoplasm;Cytosol NA Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity. NA Belongs to the cyclophilin-type PPIase family. mRNA Splicing - Major Pathway PE1 6 +NX_Q8IXZ2 Zinc finger CCCH domain-containing protein 3 948 101941 10.95 0 Nucleoplasm;Nucleus NA Required for the export of polyadenylated mRNAs from the nucleus (PubMed:19364924). Enhances ACVR1B-induced SMAD-dependent transcription. Binds to single-stranded DNA but not to double-stranded DNA in vitro. Involved in RNA cleavage (By similarity). NA NA NA PE1 8 +NX_Q8IXZ3 Transcription factor Sp8 490 48674 9.1 0 Nucleoplasm;Nucleus NA Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos (By similarity). NA Belongs to the Sp1 C2H2-type zinc-finger protein family. NA PE1 7 +NX_Q8IY17 Neuropathy target esterase 1375 150954 7.89 1 Endoplasmic reticulum membrane Spastic paraplegia 39, autosomal recessive;Boucher-Neuhauser syndrome;Laurence-Moon syndrome;Oliver-McFarlane syndrome Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy. Glycosylated. Belongs to the NTE family. Glycerophospholipid metabolism;Glycerophospholipid catabolism PE1 19 +NX_Q8IY18 Structural maintenance of chromosomes protein 5 1101 128806 8.63 0 Nucleus speckle;Chromosome;Telomere;PML body;Nucleus NA Core component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Required for recruitment of telomeres to PML nuclear bodies. Required for sister chromatid cohesion during prometaphase and mitotic progression; the function seems to be independent of SMC6. SMC5-SMC6 complex may prevent transcription of episomal DNA, such as circular viral DNA genome (PubMed:26983541). Ubiquitinated.;Sumoylated.;(Microbial infection) SMC5-SMC6 complex is degraded by the activity of Hepatitis B X protein. Belongs to the SMC family. SMC5 subfamily. SUMOylation of DNA damage response and repair proteins PE1 9 +NX_Q8IY21 Probable ATP-dependent RNA helicase DDX60 1712 197853 7.53 0 Cytoplasm;Cytosol;Cytoskeleton NA Positively regulates DDX58/RIG-I- and IFIH1/MDA5-dependent type I interferon and interferon inducible gene expression in response to viral infection. Binds ssRNA, dsRNA and dsDNA and can promote the binding of DDX58/RIG-I to dsRNA. Exhibits antiviral activity against hepatitis C virus and vesicular stomatitis virus (VSV). NA Belongs to the helicase family. NA PE1 4 +NX_Q8IY22 C-Maf-inducing protein 773 86331 6.26 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Plays a role in T-cell signaling pathway.;May play a role in T-helper 2 (Th2) signaling pathway and seems to represent the first proximal signaling protein that links T-cell receptor-mediated signal to the activation of c-Maf Th2 specific factor. NA NA NA PE1 16 +NX_Q8IY26 Phospholipid phosphatase 6 295 32194 10.03 4 Membrane;Cytoplasmic vesicle;Cytosol;Nucleoplasm NA Phosphatase that dephosphorylates presqualene diphosphate (PSDP) into presqualene monophosphate (PSMP), suggesting that it may be indirectly involved in innate immunity. PSDP is a bioactive lipid that rapidly remodels to presqualene monophosphate PSMP upon cell activation. Displays diphosphate phosphatase activity with a substrate preference for PSDP > FDP > phosphatidic acid. PLPP6 is phosphorylated by PRKCB (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the PA-phosphatase related phosphoesterase family. Cholesterol biosynthesis PE1 9 +NX_Q8IY31 Intraflagellar transport protein 20 homolog 132 15281 5.07 0 Golgi apparatus;Centriole;Cilium;Cilium basal body;cis-Golgi network;Cytoskeleton NA Part of intraflagellar transport (IFT) particles involved in ciliary process assembly. May play a role in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium (PubMed:16775004). Regulates the platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway. Required for protein stability of E3 ubiquitin ligases CBL and CBLB that mediate ubiquitination and internalization of PDGFRA for proper feedback inhibition of PDGFRA signaling (PubMed:29237719). Essential for male fertility. Plays an important role in spermatogenesis, particularly spermiogenesis, when germ cells form flagella. May play a role in the transport of flagellar proteins ODF2 and SPAG16 to build sperm flagella and in the removal of redundant sperm cytoplasm (By similarity). Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment (By similarity). NA NA Intraflagellar transport PE1 17 +NX_Q8IY33 MICAL-like protein 2 904 97502 9.63 0 Cell membrane;Recycling endosome;Cell projection;Tight junction;Cytosol;Cytoskeleton NA Effector of small Rab GTPases which is involved in junctional complexes assembly through the regulation of cell adhesion molecules transport to the plasma membrane and actin cytoskeleton reorganization. Regulates the endocytic recycling of occludins, claudins and E-cadherin to the plasma membrane and may thereby regulate the establishment of tight junctions and adherens junctions. In parallel, may regulate actin cytoskeleton reorganization directly through interaction with F-actin or indirectly through actinins and filamins. Most probably involved in the processes of epithelial cell differentiation, cell spreading and neurite outgrowth (By similarity). NA NA NA PE1 7 +NX_Q8IY34 Solute carrier family 15 member 3 581 63560 9.27 12 Cytoplasmic vesicle;Lysosome membrane NA Proton oligopeptide cotransporter. Transports free histidine and certain di- and tripeptides (By similarity). NA Belongs to the PTR2/POT transporter (TC 2.A.17) family. Proton/oligopeptide cotransporters PE1 11 +NX_Q8IY37 Probable ATP-dependent RNA helicase DHX37 1157 129545 8.36 0 Nucleus membrane NA NA NA Belongs to the DEAD box helicase family. DEAH subfamily. rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 12 +NX_Q8IY42 Uncharacterized protein C4orf19 314 33742 4.36 0 Cell junction NA NA NA NA NA PE1 4 +NX_Q8IY45 Protein AMN1 homolog 258 28408 8.15 0 Centrosome NA NA NA Belongs to the AMN1 family. NA PE1 12 +NX_Q8IY47 Kelch repeat and BTB domain-containing protein 2 623 71331 5.42 0 Cytoplasm;Nucleoplasm;Nucleolus NA NA NA NA NA PE1 7 +NX_Q8IY49 Monocyte to macrophage differentiation factor 2 270 31264 8.97 7 Golgi apparatus membrane NA NA NA Belongs to the ADIPOR family. NA PE1 7 +NX_Q8IY50 Putative thiamine transporter SLC35F3 421 46817 9.57 10 Membrane;Golgi apparatus;Nucleolus;Cell membrane NA May be a thiamine transporter. NA Belongs to the SLC35F solute transporter family. NA PE1 1 +NX_Q8IY51 Tigger transposable element-derived protein 4 512 57468 6.05 0 Nucleoplasm;Cytosol;Nucleus NA NA NA Belongs to the tigger transposable element derived protein family. NA PE1 4 +NX_Q8IY57 YY1-associated factor 2 180 19901 9.74 0 Nucleoplasm;Nucleus NA Binds to MYC and inhibits MYC-mediated transactivation. Also binds to MYCN and enhances MYCN-dependent transcriptional activation. Increases calpain 2-mediated proteolysis of YY1 in vitro. Component of the E2F6.com-1 complex, a repressive complex that methylates 'Lys-9' of histone H3, suggesting that it is involved in chromatin-remodeling. NA NA Transcriptional Regulation by E2F6;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 12 +NX_Q8IY63 Angiomotin-like protein 1 956 106574 6.62 0 Cytosol;Tight junction;Cell junction;Cytoskeleton NA Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus. Polyubiquitinated by NEDD4, leading to proteasomal degradation. Belongs to the angiomotin family. Tight junction;Signaling by Hippo PE1 11 +NX_Q8IY67 Ribonucleoprotein PTB-binding 1 606 63877 8.79 0 Nucleoplasm;Cytoplasm;Nucleus NA Cooperates with PTBP1 to modulate regulated alternative splicing events. Promotes exon skipping. Cooperates with PTBP1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA (By similarity). NA NA NA PE1 19 +NX_Q8IY81 pre-rRNA 2'-O-ribose RNA methyltransferase FTSJ3 847 96558 8.53 0 Nucleolus NA (Microbial infection) In case of infection by HIV-1 virus, recruited to HIV-1 RNA and catalyzes 2'-O-methylation of the viral genome, allowing HIV-1 virus to escape the innate immune system (PubMed:30626973). RNA 2'-O-methylation provides a molecular signature for discrimination of self from non-self and is used by HIV-1 to evade innate immune recognition by IFIH1/MDA5 (PubMed:30626973). Mediates methylation of internal residues of HIV-1 RNA, with a strong preference for adenosine (PubMed:30626973). Recruited to HIV-1 RNA via interaction with TARBP2/TRBP (PubMed:30626973).;RNA 2'-O-methyltransferase involved in the processing of the 34S pre-rRNA to 18S rRNA and in 40S ribosomal subunit formation. Citrullinated by PADI4. Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family. SPB1 subfamily. Major pathway of rRNA processing in the nucleolus and cytosol PE1 17 +NX_Q8IY82 Dynein regulatory complex subunit 7 874 103497 5.49 0 Flagellum axoneme;Cilium axoneme;Flagellum NA Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Involved in the regulation of flagellar motility. NA Belongs to the DRC7 family. NA PE1 16 +NX_Q8IY84 Serine/threonine-protein kinase NIM1 436 49606 8.53 0 Cytosol NA NA NA Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. NA PE1 5 +NX_Q8IY85 EF-hand calcium-binding domain-containing protein 13 973 110129 6.15 0 Nucleoplasm;Cytosol;Nucleus speckle NA NA NA NA NA PE2 17 +NX_Q8IY92 Structure-specific endonuclease subunit SLX4 1834 200012 5.74 0 Nucleoplasm;Cytosol;Cell junction;Nucleus Fanconi anemia complementation group P Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of deleterious DNA structures originating from replication and recombination intermediates and from DNA damage. Component of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5'-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products. Interacts with the structure-specific ERCC4-ERCC1 endonuclease and promotes the cleavage of bubble structures. Interacts with the structure-specific MUS81-EME1 endonuclease and promotes the cleavage of 3'-flap and replication fork-like structures. SLX4 is required for recovery from alkylation-induced DNA damage and is involved in the resolution of DNA double-strand breaks. NA Belongs to the SLX4 family. Fanconi anemia pathway;Resolution of D-loop Structures through Holliday Junction Intermediates;Fanconi Anemia Pathway PE1 16 +NX_Q8IY95 Transmembrane protein 192 271 30922 8.13 4 Lysosome membrane;Nucleoplasm;Endosome;Late endosome;Lysosome NA NA Not N-glycosylated. Belongs to the TMEM192 family. NA PE1 4 +NX_Q8IYA2 Putative coiled-coil domain-containing protein 144C 1237 143112 5.51 0 NA NA NA NA Belongs to the CCDC144 family. NA PE5 17 +NX_Q8IYA6 Cytoskeleton-associated protein 2-like 745 83587 9.84 0 Spindle pole;Spindle;Cytosol Filippi syndrome Microtubule-associated protein required for mitotic spindle formation and cell-cycle progression in neural progenitor cells. Ubiquitinated by the anaphase promoting complex/cyclosome (APC/C). Belongs to the CKAP2 family. NA PE1 2 +NX_Q8IYA7 Homeobox protein Mohawk 352 39331 9.66 0 Nucleoplasm;Nucleus speckle;Nucleus NA May act as a morphogenetic regulator of cell adhesion. NA Belongs to the TALE/IRO homeobox family. NA PE1 10 +NX_Q8IYA8 Interactor of HORMAD1 protein 1 594 66343 8.55 0 Nucleoplasm;Chromosome NA Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with MEI4 and REC114, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis. Not required for HORMAD1 functions in pairing-independent synaptonemal complex formation, ATR recruitment to unsynapsed axes, meiotic silencing of unsynapsed chromatin (MSUC) or meiotic surveillance. NA NA NA PE1 3 +NX_Q8IYB0 Putative uncharacterized protein MGC39545 196 21182 9.8 0 NA NA NA NA NA NA PE5 11 +NX_Q8IYB1 Protein MB21D2 491 55800 6.58 0 Cytosol NA NA NA Belongs to the mab-21 family. NA PE1 3 +NX_Q8IYB3 Serine/arginine repetitive matrix protein 1 904 102335 11.84 0 Nucleus matrix;Nucleus speckle;Nucleus NA Part of pre- and post-splicing multiprotein mRNP complexes. Involved in numerous pre-mRNA processing events. Promotes constitutive and exonic splicing enhancer (ESE)-dependent splicing activation by bridging together sequence-specific (SR family proteins, SFRS4, SFRS5 and TRA2B/SFRS10) and basal snRNP (SNRP70 and SNRPA1) factors of the spliceosome. Stimulates mRNA 3'-end cleavage independently of the formation of an exon junction complex. Binds both pre-mRNA and spliced mRNA 20-25 nt upstream of exon-exon junctions. Binds RNA and DNA with low sequence specificity and has similar preference for either double- or single-stranded nucleic acid substrates. Citrullinated by PADI4.;Phosphorylated on multiple serine and threonine residues by DYRK3 during the G2-to-M transition, after the nuclear-envelope breakdown (PubMed:29973724). Phosphorylation by DYRK3 promotes disassembly of nuclear speckles (PubMed:29973724). Belongs to the splicing factor SR family. RNA transport;mRNA surveillance pathway;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 1 +NX_Q8IYB4 PEX5-related protein 626 69697 5.18 0 Membrane;Cytoplasm NA Accessory subunit of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels, regulating their cell-surface expression and cyclic nucleotide dependence. NA Belongs to the peroxisomal targeting signal receptor family. NA PE1 3 +NX_Q8IYB5 Stromal membrane-associated protein 1 467 50386 8.92 0 Golgi apparatus;Cytosol;Cell membrane NA GTPase activating protein that acts on ARF6. Plays a role in clathrin-dependent endocytosis. May play a role in erythropoiesis (By similarity). NA NA Endocytosis PE1 6 +NX_Q8IYB7 DIS3-like exonuclease 2 885 99279 5.74 0 Cytoplasm;P-body Perlman syndrome 3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3'. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mitosis, and negatively regulates cell proliferation. NA Belongs to the RNR ribonuclease family. DIS3L2 subfamily. NA PE1 2 +NX_Q8IYB8 ATP-dependent RNA helicase SUPV3L1, mitochondrial 786 87991 8.21 0 Mitochondrion matrix;Mitochondrion;Nucleus;Mitochondrion nucleoid NA Major helicase player in mitochondrial RNA metabolism. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Involved in the degradation of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (PubMed:29967381). ATPase and ATP-dependent multisubstrate helicase, able to unwind double-stranded (ds) DNA and RNA, and RNA/DNA heteroduplexes in the 5'-to-3' direction. Plays a role in the RNA surveillance system in mitochondria; regulates the stability of mature mRNAs, the removal of aberrantly formed mRNAs and the rapid degradation of non coding processing intermediates. Also implicated in recombination and chromatin maintenance pathways. May protect cells from apoptosis. Associates with mitochondrial DNA. NA Belongs to the helicase family. NA PE1 10 +NX_Q8IYB9 Zinc finger protein 595 648 74302 9.3 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 4 +NX_Q8IYD1 Eukaryotic peptide chain release factor GTP-binding subunit ERF3B 628 68883 5.31 0 Cytoplasm NA Involved in translation termination in response to the termination codons UAA, UAG and UGA. May play a role as a potent stimulator of the release factor activity of ETF1. Exhibits GTPase activity, which is ribosome- and ETF1-dependent. May play a role in cell cycle progression. Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. NA Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. ERF3 subfamily. mRNA surveillance pathway;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Eukaryotic Translation Termination;Regulation of expression of SLITs and ROBOs PE1 X +NX_Q8IYD2 Kelch domain-containing protein 8A 350 38859 9.36 0 NA NA NA NA NA NA PE1 1 +NX_Q8IYD8 Fanconi anemia group M protein 2048 232191 5.76 0 Nucleoplasm;Nucleus Premature ovarian failure 15;Spermatogenic failure 28 DNA-dependent ATPase component of the Fanconi anemia (FA) core complex (PubMed:16116422). Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:16116422, PubMed:19423727, PubMed:20347428, PubMed:20347429, PubMed:29231814). In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork-structured DNA (fsDNA) and Holliday junction substrates (PubMed:20347428, PubMed:20347429). Its ATP-dependent DNA branch migration activity can process branched DNA structures such as a movable replication fork. This activity is strongly stimulated in the presence of CENPS and CENPX (PubMed:20347429). In complex with FAAP24, efficiently binds to single-strand DNA (ssDNA), splayed-arm DNA, and 3'-flap substrates (PubMed:17289582). In vitro, on its own, strongly binds ssDNA oligomers and weakly fsDNA, but does not bind to dsDNA (PubMed:16116434). Phosphorylated; hyperphosphorylated in response to genotoxic stress. Belongs to the DEAD box helicase family. DEAH subfamily. FANCM sub-subfamily. Fanconi anemia pathway;Fanconi Anemia Pathway PE1 14 +NX_Q8IYD9 Lung adenoma susceptibility protein 2 372 41811 8.43 0 Nucleoplasm;Secreted NA Might play a role in cell proliferation. NA NA NA PE1 18 +NX_Q8IYE0 Coiled-coil domain-containing protein 146 955 112806 8.59 0 Cytoplasmic vesicle;Golgi apparatus;Centriole NA NA NA NA NA PE1 7 +NX_Q8IYE1 Coiled-coil domain-containing protein 13 715 80884 8.82 0 Centriolar satellite;Centrosome;Cilium basal body NA Required for primary cilia formation and promotes the localization of the ciliopathy protein BBS4 to both centriolar satellites and cilia. NA NA NA PE1 3 +NX_Q8IYF1 Elongin-A2 753 83921 9.76 0 Nucleus NA SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A2 is transcriptionally active but its transcription activity is not enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex). NA NA Formation of RNA Pol II elongation complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;TP53 Regulates Transcription of DNA Repair Genes PE1 18 +NX_Q8IYF3 Testis-expressed protein 11 940 107889 5.07 0 Chromosome Spermatogenic failure, X-linked, 2 Regulator of crossing-over during meiosis. Involved in initiation and/or maintenance of chromosome synapsis and formation of crossovers. NA Belongs to the SPO22 family. NA PE1 X +NX_Q8IYG6 Leucine-rich repeat-containing protein 56 542 58733 8.05 0 Cilium Ciliary dyskinesia, primary, 39 Required for the assembly of dynein arms. NA Belongs to the LRRC56 family. NA PE1 11 +NX_Q8IYH5 ZZ-type zinc finger-containing protein 3 903 102023 5.48 0 Nucleoplasm;Nucleus;Nucleolus NA Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. NA NA HATs acetylate histones PE1 1 +NX_Q8IYI0 Shieldin complex subunit 1 205 22938 4.72 0 Endoplasmic reticulum;Cytoplasmic vesicle;Golgi apparatus;Chromosome NA Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection. Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres. NA NA NA PE1 20 +NX_Q8IYI6 Exocyst complex component 8 725 81799 5.35 0 Cytoplasm;Growth cone;Cell projection;Cytosol;Perinuclear region NA Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. NA Belongs to the EXO84 family. Translocation of SLC2A4 (GLUT4) to the plasma membrane;Insulin processing;VxPx cargo-targeting to cilium PE1 1 +NX_Q8IYI8 Zinc finger protein 440 595 69106 9.33 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8IYJ0 PILR alpha-associated neural protein 282 30076 9.29 1 Membrane;Nucleoplasm NA Acts as a ligand for PILRA in neural tissues, where it may be involved in immune regulation. O-glycosylation at Thr-140 is essential for recognition by PILRA. NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 12 +NX_Q8IYJ1 Copine-9 553 61864 5.18 0 NA NA Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003). NA Belongs to the copine family. NA PE1 3 +NX_Q8IYJ2 Uncharacterized protein C10orf67, mitochondrial 551 63656 8.91 0 Nucleoplasm;Nucleus speckle;Nucleolus;Mitochondrion NA NA NA NA NA PE1 10 +NX_Q8IYJ3 Synaptotagmin-like protein 1 562 61857 5.32 0 Cell membrane NA May play a role in vesicle trafficking (By similarity). Binds phosphatidylinositol 3,4,5-trisphosphate. Acts as a RAB27A effector protein and may play a role in cytotoxic granule exocytosis in lymphocytes (By similarity). NA NA TBC/RABGAPs PE1 1 +NX_Q8IYK2 Coiled-coil domain-containing protein 105 499 56909 9.89 0 NA NA NA NA NA NA PE1 19 +NX_Q8IYK4 Procollagen galactosyltransferase 2 626 72924 5.82 0 Nucleoplasm;Endoplasmic reticulum lumen;Cytoplasmic vesicle NA Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of collagen. NA Belongs to the glycosyltransferase 25 family. Lysine degradation;Other types of O-glycan biosynthesis;Collagen biosynthesis and modifying enzymes PE1 1 +NX_Q8IYK8 GTP-binding protein REM 2 340 37139 8.33 0 Cell membrane NA Binds GTP saturably and exhibits a low intrinsic rate of GTP hydrolysis. NA Belongs to the small GTPase superfamily. RGK family. NA PE1 14 +NX_Q8IYL2 Probable tRNA (uracil-O(2)-)-methyltransferase 757 84629 6.98 0 Cytoplasm;Nucleoplasm NA Probable adenosyl-L-methionine (AdoMet)-dependent tRNA (uracil-O(2)-)-methyltransferase. NA Belongs to the TRM44 family. tRNA modification in the nucleus and cytosol PE1 4 +NX_Q8IYL3 UPF0688 protein C1orf174 243 25977 6.45 0 Nucleoplasm;Nucleus NA NA NA Belongs to the UPF0688 family. NA PE1 1 +NX_Q8IYL9 Psychosine receptor 337 39333 8.12 7 Cytoplasmic vesicle;Cytosol;Nucleolus;Cell membrane NA Receptor for the glycosphingolipid psychosine (PSY) and several related glycosphingolipids (PubMed:11309421). Plays a role in immune response by maintaining lysosome function and supporting phagocytosis-mediated intracellular bacteria clearance (PubMed:27287411). May have a role in activation-induced cell death or differentiation of T-cells (By similarity). NA Belongs to the G-protein coupled receptor 1 family. G alpha (q) signalling events;Class A/1 (Rhodopsin-like receptors) PE1 14 +NX_Q8IYM0 Protein FAM186B 893 103722 9.08 0 NA NA NA NA Belongs to the FAM186 family. NA PE1 12 +NX_Q8IYM1 Septin-12 358 40748 6.67 0 Cytoplasm;Flagellum;Spindle;Nucleus;Cytoskeleton Spermatogenic failure 10 Filament-forming cytoskeletal GTPase (By similarity). Involved in spermatogenesis. Involved in the morphogenesis of sperm heads and the elongation of sperm tails probably implicating the association with alpha- and beta-tubulins (PubMed:24213608). Forms a filamentous structure with SEPTIN7, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). May play a role in cytokinesis (Potential). NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. NA PE1 16 +NX_Q8IYM2 Schlafen family member 12 578 66972 8.84 0 NA NA NA NA Belongs to the Schlafen family. Subgroup II subfamily. NA PE1 17 +NX_Q8IYM9 E3 ubiquitin-protein ligase TRIM22 498 56947 7.97 0 Cajal body;Cytoplasm;Nucleus speckle;Nucleoplasm;Nucleus NA Interferon-induced antiviral protein involved in cell innate immunity. The antiviral activity could in part be mediated by TRIM22-dependent ubiquitination of viral proteins. Plays a role in restricting the replication of HIV-1, encephalomyocarditis virus (EMCV) and hepatitis B virus (HBV). Acts as a transcriptional repressor of HBV core promoter. May have E3 ubiquitin-protein ligase activity. Auto-ubiquitinated. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Interferon gamma signaling PE1 11 +NX_Q8IYN0 Zinc finger protein 100 542 62745 9.17 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8IYN2 Transcription elongation factor A protein-like 8 117 13616 5.32 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the TFS-II family. TFA subfamily. NA PE1 X +NX_Q8IYN6 UBA-like domain-containing protein 2 164 17877 6.78 0 NA NA NA NA Belongs to the UBALD family. NA PE1 17 +NX_Q8IYP2 Serine protease 58 241 27085 6.36 0 Secreted NA NA NA Belongs to the peptidase S1 family. NA PE1 7 +NX_Q8IYP9 Palmitoyltransferase ZDHHC23 409 45983 8.97 6 Membrane;Nucleoplasm NA Palmitoyltransferase that mediates palmitoylation of KCNMA1, regulating localization of KCNMA1 to the plasma membrane. May be involved in NOS1 regulation and targeting to the synaptic membrane. NA Belongs to the DHHC palmitoyltransferase family. NA PE1 3 +NX_Q8IYQ7 Threonine synthase-like 1 743 83070 6.69 0 Cytosol;Mitochondrion;Nucleus NA NA NA Belongs to the threonine synthase family. NA PE1 10 +NX_Q8IYR0 Cilia- and flagella-associated protein 206 622 71193 6.38 0 Nucleoplasm;Cell junction;Cilium axoneme NA May regulate cilium motility through its role in the assembly of the axonemal radial spokes. NA Belongs to the CFAP206 family. NA PE1 6 +NX_Q8IYR2 SET and MYND domain-containing protein 4 804 89225 6.39 0 Golgi apparatus;Nucleoplasm;Cytosol;Cytoplasmic vesicle NA NA NA Belongs to the class V-like SAM-binding methyltransferase superfamily. NA PE1 17 +NX_Q8IYR6 Tomoregulin-1 380 40934 6.27 1 Cell membrane NA May inhibit NODAL and BMP signaling during neural patterning (By similarity). May be a tumor suppressor in brain cancers. NA Belongs to the tomoregulin family. NA PE1 9 +NX_Q8IYS0 Protein Aster-C 662 76035 6.81 1 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS) which is mediated by the GRAM domain (By similarity). At the EPCS, the sterol-binding VASt/ASTER domain binds to the cholesterol in the PM and facilitates its transfer from the PM to ER (By similarity). NA NA NA PE1 3 +NX_Q8IYS1 Peptidase M20 domain-containing protein 2 436 47776 5.56 0 Nucleoplasm NA NA NA Belongs to the peptidase M20A family. NA PE1 6 +NX_Q8IYS2 Uncharacterized protein KIAA2013 634 69157 8.44 1 Membrane;Golgi apparatus;Cytosol NA NA NA NA NA PE1 1 +NX_Q8IYS4 Uncharacterized protein C16orf71 520 55682 4.83 0 Nucleus speckle NA NA NA NA NA PE1 16 +NX_Q8IYS5 Osteoclast-associated immunoglobulin-like receptor 282 30481 6.09 0 Nucleoplasm;Cytosol;Secreted;Cell membrane NA Regulator of osteoclastogenesis which plays an important bone-specific function in osteoclast differentiation. NA Belongs to the leukocyte receptor complex/polymeric immunogobulin receptor (PIR/LRC) family. Osteoclast differentiation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Neutrophil degranulation PE1 19 +NX_Q8IYS8 Biorientation of chromosomes in cell division protein 1-like 2 172 18075 5.1 0 Centrosome;Kinetochore NA May play a role in proper chromosome biorientation through the detection or correction of syntelic attachments in mitotic spindles. NA Belongs to the BOD1 family. NA PE1 18 +NX_Q8IYT1 Protein FAM71A 594 63177 9.67 0 NA NA NA NA Belongs to the FAM71 family. NA PE1 1 +NX_Q8IYT2 Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 770 88120 6.57 0 Cytoplasm;Cell junction;Nucleus speckle;Nucleus NA S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap2 2'-O-ribose methylation to the 5'-cap structure of mRNAs. Methylates the ribose of the second nucleotide of a m(7)GpppG-capped mRNA and small nuclear RNA (snRNA) (cap0) to produce m(7)GpppRmpNm (cap2). Recognizes a guanosine cap on RNA independently of its N(7) methylation status. Display cap2 methylation on both cap0 and cap1. Displays a preference for cap1 RNAs. NA NA NA PE1 16 +NX_Q8IYT3 Coiled-coil domain-containing protein 170 715 82277 6.22 0 Golgi apparatus;Cell junction NA NA NA NA NA PE1 6 +NX_Q8IYT4 Katanin p60 ATPase-containing subunit A-like 2 538 61253 7.22 0 Cytoplasm;Nucleoplasm;Spindle pole;Spindle;Cytoskeleton NA Severs microtubules in vitro in an ATP-dependent manner. This activity may promote rapid reorganization of cellular microtubule arrays. NA Belongs to the AAA ATPase family. Katanin p60 subunit A1 subfamily. A-like 2 sub-subfamily. NA PE1 18 +NX_Q8IYT8 Serine/threonine-protein kinase ULK2 1036 112694 8.84 0 Cytoplasmic vesicle membrane NA Serine/threonine-protein kinase involved in autophagy in response to starvation. Acts upstream of phosphatidylinositol 3-kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes. Part of regulatory feedback loops in autophagy: acts both as a downstream effector and a negative regulator of mammalian target of rapamycin complex 1 (mTORC1) via interaction with RPTOR. Activated via phosphorylation by AMPK, also acts as a negative regulator of AMPK through phosphorylation of the AMPK subunits PRKAA1, PRKAB2 and PRKAG1. May phosphorylate ATG13/KIAA0652, FRS2, FRS3 and RPTOR; however such data need additional evidences. Not involved in ammonia-induced autophagy or in autophagic response of cerebellar granule neurons (CGN) to low potassium concentration. Plays a role early in neuronal differentiation and is required for granule cell axon formation: may govern axon formation via Ras-like GTPase signaling and through regulation of the Rab5-mediated endocytic pathways within developing axons. Autophosphorylated. In response to nutrient limitation, probably phosphorylated and activated by AMPK, leading to activate autophagy.;Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. APG1/unc-51/ULK1 subfamily. Regulation of autophagy;mTOR signaling pathway PE1 17 +NX_Q8IYU2 E3 ubiquitin-protein ligase HACE1 909 102342 5.58 0 Golgi stack membrane;Cytoplasm;Endoplasmic reticulum;Nucleus Spastic paraplegia and psychomotor retardation with or without seizures E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases. Acts as a regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and regulates postmitotic Golgi membrane fusion. Acts by mediating ubiquitination during mitotic Golgi disassembly, ubiquitination serving as a signal for Golgi reassembly later, after cell division. Specifically interacts with GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in host defense against pathogens. May also act as a transcription regulator via its interaction with RARB. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 6 +NX_Q8IYU4 Ubiquilin-like protein 475 52897 5.67 0 NA NA NA NA NA Protein processing in endoplasmic reticulum PE1 11 +NX_Q8IYU8 Calcium uptake protein 2, mitochondrial 434 49666 9.17 0 Nucleoplasm;Mitochondrion intermembrane space;Mitochondrion NA Key regulator of mitochondrial calcium uniporter (MCU) required to limit calcium uptake by MCU when cytoplasmic calcium is low (PubMed:24503055, PubMed:24560927, PubMed:26903221). MICU1 and MICU2 form a disulfide-linked heterodimer that stimulate and inhibit MCU activity, depending on the concentration of calcium (PubMed:24560927). MICU2 acts as a gatekeeper of MCU that senses calcium level via its EF-hand domains: prevents channel opening at resting calcium, avoiding energy dissipation and cell-death triggering (PubMed:24560927). NA Belongs to the MICU1 family. MICU2 subfamily. Processing of SMDT1;Mitochondrial calcium ion transport PE1 13 +NX_Q8IYV9 Izumo sperm-egg fusion protein 1 350 38930 6.11 1 Acrosome membrane;Cell membrane NA Essential sperm cell-surface protein required for fertilization by acting as a ligand for IZUMO1R/JUNO receptor on egg (PubMed:15759005). The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is required for fertilization but is not sufficient for cell fusion (PubMed:15759005). The ligand-receptor interaction probably does not act as a membrane 'fusogen' (PubMed:15759005). Phosphorylated. The cytoplasmic C-terminus is phosphorylated and undergoes phosphorylation changes during epididymal transit.;N-glycosylated. Glycosylation is not essential for fusion and for proper protein trafficking in sperm. Belongs to the Izumo family. Acrosome Reaction and Sperm:Oocyte Membrane Binding PE1 19 +NX_Q8IYW2 Cilia- and flagella-associated protein 46 2715 303500 7.07 0 Cilium axoneme NA As part of the central apparatus of the cilium axoneme plays a role in cilium movement. NA Belongs to the CFAP46 family. NA PE1 10 +NX_Q8IYW4 ENTH domain-containing protein 1 607 67538 6.16 0 NA NA NA NA NA NA PE1 22 +NX_Q8IYW5 E3 ubiquitin-protein ligase RNF168 571 65020 8.26 0 Nucleoplasm;Nucleus Riddle syndrome E3 ubiquitin-protein ligase required for accumulation of repair proteins to sites of DNA damage. Acts with UBE2N/UBC13 to amplify the RNF8-dependent histone ubiquitination. Recruited to sites of DNA damage at double-strand breaks (DSBs) by binding to ubiquitinated histone H2A and H2AX and amplifies the RNF8-dependent H2A ubiquitination, promoting the formation of 'Lys-63'-linked ubiquitin conjugates. This leads to concentrate ubiquitinated histones H2A and H2AX at DNA lesions to the threshold required for recruitment of TP53BP1 and BRCA1. Also recruited at DNA interstrand cross-links (ICLs) sites and promotes accumulation of 'Lys-63'-linked ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20/C1orf86 and Fanconi anemia (FA) complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the ATM-dependent transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between transcription and repair intermediates. Also involved in class switch recombination in immune system, via its role in regulation of DSBs repair. Following DNA damage, promotes the ubiquitination and degradation of JMJD2A/KDM4A in collaboration with RNF8, leading to unmask H4K20me2 mark and promote the recruitment of TP53BP1 at DNA damage sites. Not able to initiate 'Lys-63'-linked ubiquitination in vitro; possibly due to partial occlusion of the UBE2N/UBC13-binding region. Catalyzes monoubiquitination of 'Lys-13' and 'Lys-15' of nucleosomal histone H2A (H2AK13Ub and H2AK15Ub, respectively). Sumoylated with SUMO1 by PIAS4 in response to double-strand breaks (DSBs).;Ubiquitinated. Belongs to the RNF168 family. Protein modification; protein ubiquitination.;SUMOylation of DNA damage response and repair proteins;G2/M DNA damage checkpoint;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ) PE1 3 +NX_Q8IYX0 Zinc finger protein 679 411 47179 9.17 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_Q8IYX1 TBC1 domain family member 21 336 39221 5.81 0 Acrosome;Cytoskeleton NA May act as a GTPase-activating protein for Rab family protein(s) (PubMed:19077034). May be involved in acrosome formation and cytoskeletal reorganization during spermiogenesis, possibly by regulating RAB3A activity (PubMed:21128978). NA NA NA PE1 15 +NX_Q8IYX3 Coiled-coil domain-containing protein 116 613 67946 8.83 0 Centrosome NA NA NA NA NA PE1 22 +NX_Q8IYX4 Dead end protein homolog 1 353 38687 9.74 0 Cytoplasm;Nucleus NA RNA-binding factor that positively regulates gene expression by prohibiting miRNA-mediated gene suppression. Relieves miRNA repression in germline cells (By similarity). Prohibits the function of several miRNAs by blocking the accessibility of target mRNAs. Sequence-specific RNA-binding factor that binds specifically to U-rich regions (URRs) in the 3' untranslated region (3'-UTR) of several mRNAs. Does not bind to miRNAs. May play a role during primordial germ cell (PGC) survival (By similarity). However, does not seem to be essential for PGC migration (By similarity). NA NA NA PE1 5 +NX_Q8IYX7 Stabilizer of axonemal microtubules 1 474 54621 8.68 0 Flagellum axoneme;Centriole;Cilium basal body;Centrosome;Cilium axoneme NA May play a role in the regulation of cilium length. Stabilizes microtubules at low temperature. NA Belongs to the FAM154 family. NA PE1 9 +NX_Q8IYX8 Centrosomal protein CEP57L1 460 53649 8.82 0 Cytosol;Centrosome;Cell membrane NA Centrosomal protein which may be required for microtubule attachment to centrosomes. NA Belongs to the translokin family. NA PE1 6 +NX_Q8IYY4 Zinc finger protein DZIP1L 767 86848 6.85 0 Nucleoplasm;Cytoskeleton;Cilium basal body;Centriole Polycystic kidney disease 5 Involved in primary cilium formation (PubMed:19852954, PubMed:28530676). Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane (PubMed:28530676). NA Belongs to the DZIP C2H2-type zinc-finger protein family. NA PE1 3 +NX_Q8IZ02 Leucine-rich repeat-containing protein 34 464 51277 6.32 0 Cytoplasm;Cell junction;Nucleolus;Nucleus;Cytoskeleton NA Highly expressed in stem cells where it may be involved in regulation of pluripotency. In embryonic stem cells (ESCs), important for normal expression of the pluripotency regulators POU5F1/OCT4 and KLF4. Also important for expression of the ectodermal marker gene NES and the endodermal marker gene GATA4. Promotes stem cell proliferation in vitro. NA NA NA PE1 3 +NX_Q8IZ07 Ankyrin repeat domain-containing protein 13A 590 67619 4.93 0 Late endosome;Cell membrane NA Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Does not bind 'Lys-48'-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane. Monoubiquitinated, inhibits interaction with ubiquitinated EGFR. NA NA PE1 12 +NX_Q8IZ08 G-protein coupled receptor 135 494 51736 9.88 7 Cell membrane;Endosome membrane NA Orphan receptor. Has spontaneous activity for beta-arrestin recruitment (PubMed:28827538). Shows a reciprocal regulatory interaction with the melatonin receptor MTNR1B most likely through receptor heteromerization (PubMed:28827538). NA Belongs to the G-protein coupled receptor 1 family. NA PE1 14 +NX_Q8IZ13 Protein ZBED8 594 68327 5.98 0 Nucleoplasm NA NA NA NA NA PE1 5 +NX_Q8IZ16 Uncharacterized protein C7orf61 206 23862 10.41 0 Cytoplasmic vesicle NA NA NA NA NA PE1 7 +NX_Q8IZ20 Tissue-resident T-cell transcription regulator protein ZNF683 524 56905 9.01 0 Nucleus NA Transcriptional repressor that binds to DNA within promoter regions of the transcriptional repressor PRDM1/BLIMP1 target sites. Regulates interferon-gamma (IFN-gamma) production in cytomegalovirus (CMV)-infected effector CD8(+) T cells.;Lacks transcriptional repressor activity. Binds to DNA within promoter regions of the transcriptional repressor PRDM1/BLIMP1 target sites. Unable to regulate interferon-gamma (IFN-gamma) production in cytomegalovirus (CMV)-infected effector CD8(+) T-cells.;Transcription factor that mediates a transcriptional program in various innate and adaptive immune tissue-resident lymphocyte T-cell types such as tissue-resident memory T (Trm), natural killer (trNK) and natural killer T (NKT) cells and negatively regulates gene expression of proteins that promote the egress of tissue-resident T-cell populations from non-lymphoid organs. Plays a role in the development, retention and long-term establishment of adaptive and innate tissue-resident lymphocyte T cell types in non-lymphoid organs, such as the skin and gut, but also in other nonbarrier tissues like liver and kidney, and therefore may provide immediate immunological protection against reactivating infections or viral reinfection. Plays also a role in the differentiation of both thymic and peripheral NKT cells. Negatively regulates the accumulation of interferon-gamma (IFN-gamma) in NKT cells at steady state or after antigenic stimulation. Positively regulates granzyme B production in NKT cells after innate stimulation. Associates with the transcriptional repressor PRDM1/BLIMP1 to chromatin at gene promoter regions. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 1 +NX_Q8IZ21 Phosphatase and actin regulator 4 702 78211 6.2 0 Cytoplasm;Cell membrane;Lamellipodium;Cytosol;Cytoskeleton NA Regulator of protein phosphatase 1 (PP1) required for neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. Acts as an activator of PP1 by interacting with PPP1CA and preventing phosphorylation of PPP1CA at 'Thr-320'. During neural tube closure, localizes to the ventral neural tube and activates PP1, leading to down-regulate cell proliferation within cranial neural tissue and the neural retina. Also acts as a regulator of migration of enteric neural crest cells (ENCCs) by activating PP1, leading to dephosphorylation and subsequent activation of cofilin (COF1 or COF2) and repression of the integrin signaling through the RHO/ROCK pathway (By similarity). NA Belongs to the phosphatase and actin regulator family. NA PE1 1 +NX_Q8IZ26 Zinc finger protein 34 560 64038 9.05 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 8 +NX_Q8IZ40 REST corepressor 2 523 58012 9.08 0 Midbody;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA May act as a component of a corepressor complex that represses transcription. NA Belongs to the CoREST family. NA PE1 11 +NX_Q8IZ41 Ras and EF-hand domain-containing protein 740 82879 4.99 0 Perinuclear region;Cytoskeleton NA Binds predominantly GDP, and also GTP. NA Belongs to the small GTPase superfamily. Rab family. NA PE1 9 +NX_Q8IZ52 Chondroitin sulfate synthase 2 775 85467 6.45 1 Mitochondrion;Mitochondrion matrix;Golgi stack membrane;Centrosome;Cytoplasmic vesicle;Cytosol NA May facilitate PRKN transport into the mitochondria. In collaboration with PRKN, isoform 2 may enhance cell viability and protect cells from oxidative stress.;Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. NA Belongs to the chondroitin N-acetylgalactosaminyltransferase family. Glycosaminoglycan biosynthesis - chondroitin sulfate;Metabolic pathways;Chondroitin sulfate biosynthesis PE1 2 +NX_Q8IZ57 Neurensin-1 195 21475 7.61 2 Membrane;Cytosol;Neuron projection;Cell membrane NA May play an important role in neural organelle transport, and in transduction of nerve signals or in nerve growth. May play a role in neurite extension. May play a role in memory consolidation (By similarity). NA Belongs to the VMP family. NA PE1 6 +NX_Q8IZ63 Proline-rich protein 22 422 43980 4.97 0 Nucleoplasm;Cytosol;Cytoplasmic vesicle NA NA NA NA NA PE1 19 +NX_Q8IZ69 tRNA (uracil-5-)-methyltransferase homolog A 625 68726 8.21 0 Nucleoplasm;Cytosol NA May be involved in nucleic acid metabolism and/or modifications. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA M5U methyltransferase family. NA PE1 22 +NX_Q8IZ73 RNA pseudouridylate synthase domain-containing protein 2 545 61311 6.72 0 Nucleoplasm;Cytoskeleton NA NA NA Belongs to the pseudouridine synthase RluA family. NA PE1 15 +NX_Q8IZ81 ELMO domain-containing protein 2 293 34961 8.12 0 Nucleoplasm;Cytosol;Nucleolus NA Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family. Regulates IFN-related antiviral responses. NA NA NA PE1 4 +NX_Q8IZ83 Aldehyde dehydrogenase family 16 member A1 802 85127 6.35 0 Mitochondrion NA NA NA Belongs to the aldehyde dehydrogenase family. NA PE1 19 +NX_Q8IZ96 CKLF-like MARVEL transmembrane domain-containing protein 1 169 18576 6.5 4 Membrane;Nucleoplasm NA NA NA Belongs to the chemokine-like factor family. NA PE1 16 +NX_Q8IZA0 Dyslexia-associated protein KIAA0319-like protein 1049 115658 5.71 2 Golgi apparatus;Cell membrane;trans-Golgi network membrane;Nucleolus;Cytoplasmic granule membrane;Golgi apparatus membrane NA (Microbial infection) Acts as a receptor for adeno-associated virus and is involved in adeno-associated virus infection through endocytosis system.;Possible role in axon guidance through interaction with RTN4R. N-glycosylated. NA NA PE1 1 +NX_Q8IZA3 Histone H1oo 346 35813 11.27 0 Cytoplasm;Nucleus;Chromosome NA May play a key role in the control of gene expression during oogenesis and early embryogenesis, presumably through the perturbation of chromatin structure. Essential for meiotic maturation of germinal vesicle-stage oocytes. The somatic type linker histone H1c is rapidly replaced by H1oo in a donor nucleus transplanted into an oocyte. The greater mobility of H1oo as compared to H1c may contribute to this rapid replacement and increased instability of the embryonic chromatin structure. The rapid replacement of H1c with H1oo may play an important role in nuclear remodeling (By similarity). NA Belongs to the histone H1/H5 family. NA PE2 3 +NX_Q8IZC4 Rhotekin-2 609 69304 8.03 0 Nucleoplasm;Mitochondrion NA May play an important role in lymphopoiesis. NA NA NA PE1 10 +NX_Q8IZC6 Collagen alpha-1(XXVII) chain 1860 186892 9.83 0 Extracellular matrix Steel syndrome Plays a role during the calcification of cartilage and the transition of cartilage to bone. NA Belongs to the fibrillar collagen family. Collagen biosynthesis and modifying enzymes;Assembly of collagen fibrils and other multimeric structures;MET activates PTK2 signaling;Collagen chain trimerization PE1 9 +NX_Q8IZC7 Zinc finger protein 101 436 50339 9.67 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8IZD0 Sterile alpha motif domain-containing protein 14 417 45056 9.41 0 Nucleoplasm;Nucleolus NA NA NA NA NA PE1 17 +NX_Q8IZD2 Inactive histone-lysine N-methyltransferase 2E 1858 204965 7.41 0 Cytoplasm;Nucleus speckle;Cell membrane;Chromosome;Nucleoplasm;Centrosome;Cytoplasmic vesicle;Nucleus NA Cellular ligand for NCR2/NKp44, may play a role as a danger signal in cytotoxicity and NK-cell-mediated innate immunity.;Associates with chromatin regions downstream of transcriptional start sites of active genes and thus regulates gene transcription (PubMed:23629655, PubMed:24130829, PubMed:23798402). Chromatin interaction is mediated via the binding to tri-methylated histone H3 at 'Lys-4' (H3K4me3) (PubMed:24130829, PubMed:23798402). Key regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation (By similarity). Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages including G1/S transition, S phase progression and mitotic entry (PubMed:14718661, PubMed:18573682, PubMed:19264965, PubMed:23629655). Recruited to E2F1 responsive promoters by HCFC1 where it stimulates tri-methylation of histone H3 at 'Lys-4' and transcriptional activation and thereby facilitates G1 to S phase transition (PubMed:23629655). During myoblast differentiation, required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells (By similarity). Ubiquitinated. Deubiquitinated by USP7.;O-glycosylated at Ser-435 and Thr-440 in the SET domain by OGT which probably prevents KMT2E proteasomal-mediated degradation. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily. Lysine degradation;PKMTs methylate histone lysines;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 7 +NX_Q8IZD4 mRNA-decapping enzyme 1B 617 67723 8.75 0 Cytoplasm;Cytosol;Nucleus;Cytoplasmic vesicle NA May play a role in the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. May remove the 7-methyl guanine cap structure from mRNA molecules, yielding a 5'-phosphorylated mRNA fragment and 7m-GDP (By similarity). NA Belongs to the DCP1 family. RNA degradation;mRNA decay by 5' to 3' exoribonuclease PE1 12 +NX_Q8IZD6 Solute carrier family 22 member 15 547 60540 5.41 12 Membrane NA Probably transports organic cations (By similarity). Appears not to be the agmatine transporter. NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. Organic cation transport PE1 1 +NX_Q8IZD9 Dedicator of cytokinesis protein 3 2030 233103 6.52 0 Cytoplasm;Cytosol Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Its interaction with presenilin proteins as well as its ability to stimulate Tau/MAPT phosphorylation suggest that it may be involved in Alzheimer disease. Ectopic expression in nerve cells decreases the secretion of amyloid-beta APBA1 protein and lowers the rate of cell-substratum adhesion, suggesting that it may affect the function of some small GTPase involved in the regulation of actin cytoskeleton or cell adhesion receptors (By similarity). NA Belongs to the DOCK family. Factors involved in megakaryocyte development and platelet production;NTRK2 activates RAC1 PE1 3 +NX_Q8IZE3 Protein-associating with the carboxyl-terminal domain of ezrin 742 82857 4.96 0 Golgi apparatus;Cytoplasm;Lamellipodium;Nucleus;Cytoskeleton NA May play a role in regulating cell adhesion/migration complexes in migrating cells. Phosphorylated.;May be myristoylated; myristoylation may target it to Golgi compartment. Belongs to the protein kinase superfamily. NA PE1 1 +NX_Q8IZF0 Sodium leak channel non-selective protein 1738 200331 8.93 24 Membrane Hypotonia, infantile, with psychomotor retardation and characteristic facies 1;Congenital contractures of the limbs and face, hypotonia, and developmental delay Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Regulates the resting membrane potential and controls neuronal excitability (PubMed:17448995). Neuropeptides such as neurotensin and substance P (SP) stimulate the firing of action potentials by activating NALCN through a SRC family kinases-dependent pathway. In addition to its baseline activity, NALCN activity is enhanced/modulated by several GPCRs. Required for normal respiratory rhythm and neonatal survival. Involved in systemic osmoregulation by controlling the serum sodium concentration. NALCN is partly responsible for the substance P-induced depolarization and regulation of the intestinal pace-making activity in the interstitial cells of Cajal. Plays a critical role in both maintenance of spontaneous firing of substantia nigra pars reticulata (SNr) neurons and physiological modulation of SNr neuron excitability (By similarity). Phosphorylated on tyrosine residues. Belongs to the cation-nonselective channel family. Stimuli-sensing channels PE1 13 +NX_Q8IZF2 Adhesion G protein-coupled receptor F5 1346 149457 6.23 7 Cell membrane NA Receptor that plays a critical role in lung surfactant homeostasis. May play a role in controlling adipocyte function. Highly glycosylated.;Proteolytically cleaved at multiple sites: one in the GPS domain (S1 site) and the other in the SEA domain (S2 site). The proteolytic cleavage at S1 site generates an extracellular subunit and a seven-transmembrane subunit. The proteolytic cleavage at S2 site generates a fragment that undergoes proteolytic cleavage by the processing enzyme furin. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. Surfactant metabolism PE1 6 +NX_Q8IZF3 Adhesion G protein-coupled receptor F4 695 77719 9.23 7 Membrane;Mitochondrion NA Orphan receptor. NA Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE1 6 +NX_Q8IZF4 Adhesion G-protein coupled receptor G5 528 59000 8.69 7 Cytoplasmic vesicle;Nucleoplasm;Nucleus membrane;Cell membrane NA Adhesion G protein-coupled receptor (GPCR). Transduces intracellular signals through coupling to guanine nucleotide-binding protein G(s) subunit alpha and activation of adenylate cyclase pathway. Autoproteolysis between residues Leu-226 and Thr-227 occurs in the lumen of the endoplasmic reticulum during receptor biosynthesis. The N-terminal fragment (NTF) subsequently reassociates with the C-terminal fragment (CTF) either in a homogeneric heterodimerization, or with another family member through heterogeneric heterodimerization. Autocatalytic cleavage is thought to be critical for the maturation, stability, trafficking, and function. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE1 16 +NX_Q8IZF5 Adhesion G-protein coupled receptor F3 1079 116341 7.44 7 Membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE2 2 +NX_Q8IZF6 Adhesion G-protein coupled receptor G4 3080 333368 5.82 7 Membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE2 X +NX_Q8IZF7 Adhesion G-protein coupled receptor F2 708 78569 8.45 7 Membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE2 6 +NX_Q8IZH2 5'-3' exoribonuclease 1 1706 194107 6.78 0 Cytoplasm;Cytosol;Cell membrane NA Major 5'-3' exoribonuclease involved in mRNA decay. Required for the 5'-3'-processing of the G4 tetraplex-containing DNA and RNA substrates. The kinetic of hydrolysis is faster for G4 RNA tetraplex than for G4 DNA tetraplex and monomeric RNA tetraplex. Binds to RNA and DNA (By similarity). Plays a role in replication-dependent histone mRNA degradation. May act as a tumor suppressor protein in osteogenic sarcoma (OGS). NA Belongs to the 5'-3' exonuclease family. Ribosome biogenesis in eukaryotes;RNA degradation;mRNA decay by 5' to 3' exoribonuclease;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA PE1 3 +NX_Q8IZI9 Interferon lambda-3 196 21706 8.69 0 Secreted NA Cytokine with antiviral, antitumour and immunomodulatory activities. Plays a critical role in the antiviral host defense, predominantly in the epithelial tissues. Acts as a ligand for the heterodimeric class II cytokine receptor composed of IL10RB and IFNLR1, and receptor engagement leads to the activation of the JAK/STAT signaling pathway resulting in the expression of IFN-stimulated genes (ISG), which mediate the antiviral state. Has a restricted receptor distribution and therefore restricted targets: is primarily active in epithelial cells and this cell type-selective action is because of the epithelial cell-specific expression of its receptor IFNLR1. Seems not to be essential for early virus-activated host defense in vaginal infection, but plays an important role in Toll-like receptor (TLR)-induced antiviral defense. Plays a significant role in the antiviral immune defense in the intestinal epithelium. Exerts an immunomodulatory effect by up-regulating MHC class I antigen expression. NA Belongs to the lambda interferon family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-20 family signaling PE1 19 +NX_Q8IZJ0 Interferon lambda-2 200 22288 8.15 0 Secreted NA Cytokine with antiviral, antitumour and immunomodulatory activities. Plays a critical role in the antiviral host defense, predominantly in the epithelial tissues. Acts as a ligand for the heterodimeric class II cytokine receptor composed of IL10RB and IFNLR1, and receptor engagement leads to the activation of the JAK/STAT signaling pathway resulting in the expression of IFN-stimulated genes (ISG), which mediate the antiviral state. Has a restricted receptor distribution and therefore restricted targets: is primarily active in epithelial cells and this cell type-selective action is because of the epithelial cell-specific expression of its receptor IFNLR1. Seems not to be essential for early virus-activated host defense in vaginal infection, but plays an important role in Toll-like receptor (TLR)-induced antiviral defense. Plays a significant role in the antiviral immune defense in the intestinal epithelium. Exerts an immunomodulatory effect by up-regulating MHC class I antigen expression. NA Belongs to the lambda interferon family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-20 family signaling PE2 19 +NX_Q8IZJ1 Netrin receptor UNC5B 945 103638 5.68 1 Membrane raft;Cell membrane NA Receptor for netrin required for axon guidance. Mediates axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding. Axon repulsion in growth cones may be caused by its association with DCC that may trigger signaling for repulsion (By similarity). Functions as netrin receptor that negatively regulates vascular branching during angiogenesis. Mediates retraction of tip cell filopodia on endothelial growth cones in response to netrin (By similarity). It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand (PubMed:12598906). Mediates apoptosis by activating DAPK1. In the absence of NTN1, activates DAPK1 by reducing its autoinhibitory phosphorylation at Ser-308 thereby increasing its catalytic activity (By similarity). Palmitoylation is required for pro-apoptotic activity, but not for location at lipid rafts.;Phosphorylated on cytoplasmic tyrosine residues.;Proteolytically cleaved by caspases during apoptosis. The cleavage does not take place when the receptor is associated with netrin ligand. Its cleavage by caspases is required to induce apoptosis. Belongs to the unc-5 family. Axon guidance;Netrin-1 signaling;Caspase activation via Dependence Receptors in the absence of ligand;Netrin mediated repulsion signals PE1 10 +NX_Q8IZJ3 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 1885 206702 6 0 Focal adhesion;Secreted;Cell membrane Anterior segment dysgenesis 8 NA Proteolytically cleaved into 2 chains of about 70 and 130 kDa. The fragments are not connected by disulfide bonds. Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family. NA PE1 19 +NX_Q8IZJ4 Ral-GDS-related protein 473 52346 8.17 0 Cytoplasmic vesicle;Centrosome NA NA NA NA NA PE2 22 +NX_Q8IZJ6 Inactive L-threonine 3-dehydrogenase, mitochondrial 230 25407 9.58 0 Mitochondrion NA NA NA Belongs to the NAD(P)-dependent epimerase/dehydratase family. Threonine catabolism PE2 8 +NX_Q8IZK6 Mucolipin-2 566 65942 7.73 6 Cell membrane;Lysosome membrane;Recycling endosome membrane;Late endosome membrane;Cytoskeleton NA Nonselective cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)-permeable cation channel with inwardly rectifying activity (PubMed:19940139, PubMed:19885840). May activate ARF6 and be involved in the trafficking of GPI-anchored cargo proteins to the cell surface via the ARF6-regulated recycling pathway (PubMed:17662026). May play a role in immune processes. In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity). In the innate immune response, may play a role in the regulation of chemokine secretion and macrophage migration (By similarity). Through a possible and probably tissue-specific heteromerization with MCOLN1 may be at least in part involved in many lysosome-dependent cellular events (PubMed:19885840). NA Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN2 sub-subfamily. TRP channels PE1 1 +NX_Q8IZL2 Mastermind-like protein 2 1156 125197 9.45 0 Nucleoplasm;Cytosol;Nucleus speckle;Nucleus NA Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Potentiates activation by NOTCH3 and NOTCH4 more efficiently than MAML1 or MAML3. NA Belongs to the mastermind family. Notch signaling pathway;Pre-NOTCH Transcription and Translation;Notch-HLH transcription pathway;NOTCH2 intracellular domain regulates transcription;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells;RUNX3 regulates NOTCH signaling;NOTCH3 Intracellular Domain Regulates Transcription;NOTCH4 Intracellular Domain Regulates Transcription PE1 11 +NX_Q8IZL8 Proline-, glutamic acid- and leucine-rich protein 1 1130 119700 4.29 0 Nucleoplasm;Nucleolus;Cytoplasm;Nucleus NA Coactivator of estrogen receptor-mediated transcription and a corepressor of other nuclear hormone receptors and sequence-specific transcription factors. Plays a role in estrogen receptor (ER) genomic activity when present in the nuclear compartment by activating the ER target genes in a hormonal stimulation dependent manner. Can facilitate ER non-genomic signaling via SRC and PI3K interaction in the cytosol. Plays a role in E2-mediated cell cycle progression by interacting with RB1. May have important functional implications in ER/growth factor cross-talk. Interacts with several growth factor signaling components including EGFR and HRS. Involved in nuclear receptor signaling via its interaction with AR and NR3C1. May promote tumorigenesis via its interaction with and modulation of several oncogenes including SRC, PI3K, STAT3 and EGFR. Plays a role in cancer cell metastasis via its ability to modulate E2-mediated cytoskeleton changes and cell migration via its interaction with SRC and PI3K. Functions as the key stabilizing component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes. Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit. Regulates pre-60S association of the critical remodeling factor MDN1 (PubMed:21326211). Transiently sumoylated, preferentially conjugated to SUMO2 or SUMO3. Sumoylation causes nucleolar exclusion of PELP1 and promotes the recruitment of MDN1 to pre-60S particles. Desumoylation by SUMO isopeptidase SENP3 is needed to release both PELP1 and MDN1 from pre-ribosomes. Belongs to the RIX1/PELP1 family. Major pathway of rRNA processing in the nucleolus and cytosol;PTK6 Expression PE1 17 +NX_Q8IZL9 Cyclin-dependent kinase 20 346 38695 6.27 0 Nucleoplasm;Cytoplasm;Cilium;Nucleus NA Required for high-level Shh responses in the developing neural tube. Together with TBC1D32, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to SHH signaling (By similarity). Involved in cell growth. Activates CDK2, a kinase involved in the control of the cell cycle, by phosphorylating residue 'Thr-160'. NA Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. NA PE1 9 +NX_Q8IZM0 Putative CNGA1-overlapping antisense gene protein 81 9081 11.39 0 NA NA NA NA NA NA PE5 4 +NX_Q8IZM8 Zinc finger protein 654 581 65854 5.36 0 Nucleoplasm;Spindle;Nucleus;Cytoskeleton NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 3 +NX_Q8IZM9 Probable sodium-coupled neutral amino acid transporter 6 456 50929 8.02 11 Cell junction;Cell membrane;Cytoskeleton NA Probable sodium-dependent amino acid/proton antiporter, could be a neuronal transporter for glutamate. NA Belongs to the amino acid/polyamine transporter 2 family. NA PE1 14 +NX_Q8IZN3 Probable palmitoyltransferase ZDHHC14 488 53388 8.59 4 Membrane;Mitochondrion;Nucleolus NA NA NA Belongs to the DHHC palmitoyltransferase family. ERF2/ZDHHC9 subfamily. NA PE1 6 +NX_Q8IZN7 Beta-defensin 107 70 7846 9.45 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE2 8 +NX_Q8IZP0 Abl interactor 1 508 55081 6.57 0 Cytoplasm;Cell membrane;Cell junction;Growth cone;Lamellipodium;Filopodium;Postsynaptic density;Cytosol;Nucleus;Cytoskeleton NA May act in negative regulation of cell growth and transformation by interacting with nonreceptor tyrosine kinases ABL1 and/or ABL2. May play a role in regulation of EGF-induced Erk pathway activation. Involved in cytoskeletal reorganization and EGFR signaling. Together with EPS8 participates in transduction of signals from Ras to Rac. In vitro, a trimeric complex of ABI1, EPS8 and SOS1 exhibits Rac specific guanine nucleotide exchange factor (GEF) activity and ABI1 seems to act as an adapter in the complex. Regulates ABL1/c-Abl-mediated phosphorylation of ENAH. Recruits WASF1 to lamellipodia and there seems to regulate WASF1 protein level. In brain, seems to regulate the dendritic outgrowth and branching as well as to determine the shape and number of synaptic contacts of developing neurons. Phosphorylated on tyrosine residues after serum stimulation or induction by v-Abl. Seems to be phosphorylated at Tyr-53 by ABL1, required for nuclear but not for synaptic localization. Belongs to the ABI family. Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;VEGFA-VEGFR2 Pathway PE1 10 +NX_Q8IZP1 TBC1 domain family member 3 549 62187 9.24 0 Cell membrane NA Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11. Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination.;Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation. NA TBC/RABGAPs PE1 17 +NX_Q8IZP2 Putative protein FAM10A4 240 27407 5.01 0 Cytoplasm NA NA NA Belongs to the FAM10 family. NA PE5 13 +NX_Q8IZP6 RING finger protein 113B 322 36259 7.54 0 NA NA NA NA NA NA PE1 13 +NX_Q8IZP7 Heparan-sulfate 6-O-sulfotransferase 3 471 54844 6.39 1 Cell membrane;Nucleus membrane;Membrane;Nucleoplasm;Cytoskeleton NA 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. NA Belongs to the sulfotransferase 6 family. Glycosaminoglycan biosynthesis - heparan sulfate;HS-GAG biosynthesis PE1 13 +NX_Q8IZP9 Adhesion G-protein coupled receptor G2 1017 111593 7.66 7 Apical cell membrane;Cytosol;Cell membrane Congenital bilateral aplasia of the vas deferens, X-linked Orphan receptor. Could be involved in a signal transduction pathway controlling epididymal function and male fertility. May regulate fluid exchange within epididymis. Highly glycosylated.;Proteolytically cleaved into 2 subunits, an extracellular subunit and a seven-transmembrane subunit. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE1 X +NX_Q8IZQ1 WD repeat and FYVE domain-containing protein 3 3526 395258 6.3 0 Cell membrane;Perikaryon;Nucleolus;Nucleus membrane;Membrane;PML body;Cytosol;Axon Microcephaly 18, primary, autosomal dominant Required for selective macroautophagy (aggrephagy). Acts as an adapter protein by linking specific proteins destined for degradation to the core autophagic machinery members, such as the ATG5-ATG12-ATG16L E3-like ligase, SQSTM1 and LC3 (PubMed:20417604). Along with p62/SQSTM1, involved in the formation and autophagic degradation of cytoplasmic ubiquitin-containing inclusions (p62 bodies, ALIS/aggresome-like induced structures). Along with SQSTM1, required to recruit ubiquitinated proteins to PML bodies in the nucleus (PubMed:20168092). Important for normal brain development. Essential for the formation of axonal tracts throughout the brain and spinal cord, including the formation of the major forebrain commissures. Involved in the ability of neural cells to respond to guidance cues. Required for cortical neurons to respond to the trophic effects of netrin-1/NTN1 (By similarity). Regulates Wnt signaling through the removal of DVL3 aggregates, likely in an autophagy-dependent manner. This process may be important for the determination of brain size during embryonic development (PubMed:27008544). May regulate osteoclastogenesis by acting on the TNFSF11/RANKL - TRAF6 pathway (By similarity). After cytokinetic abscission, involved in midbody remnant degradation (PubMed:24128730). In vitro strongly binds to phosphatidylinositol 3-phosphate (PtdIns3P) (PubMed:15292400). NA NA NA PE1 4 +NX_Q8IZQ5 Selenoprotein H 122 13453 9.76 0 Nucleoplasm;Nucleolus NA May be involved in a redox-related process. NA Belongs to the SelWTH family. NA PE1 11 +NX_Q8IZQ8 Myocardin 938 101997 6.17 0 Nucleoplasm;Nucleus NA Smooth muscle cells (SM) and cardiac muscle cells-specific transcriptional factor which uses the canonical single or multiple CArG boxes DNA sequence. Acts as a cofactor of serum response factor (SRF) with the potential to modulate SRF-target genes. Plays a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage (myogenesis) (By similarity). Phosphorylation regulates negatively the intrinsic myocardin transcriptional activity. NA NA PE1 17 +NX_Q8IZR5 CKLF-like MARVEL transmembrane domain-containing protein 4 234 25828 7.65 4 Membrane;Golgi apparatus;Cell membrane;Cytoplasmic vesicle NA Acts as a backup for CMTM6 to regulate plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity. May protect PD-L1/CD274 from being polyubiquitinated and targeted for degradation. NA Belongs to the chemokine-like factor family. NA PE1 16 +NX_Q8IZS5 Orofacial cleft 1 candidate gene 1 protein 231 26754 5.89 0 NA NA NA NA NA NA PE1 6 +NX_Q8IZS6 Tctex1 domain-containing protein 3 198 23176 9.34 0 Membrane;Cytoplasmic granule;Cytoskeleton NA May be an accessory component of axonemal dynein and cytoplasmic dynein 1. Candidate for involvement in male sterility (By similarity). NA Belongs to the dynein light chain Tctex-type family. Intraflagellar transport PE1 6 +NX_Q8IZS7 C-type lectin-like domain family 1 167 19115 9.44 1 Centriolar satellite;Cell membrane NA May function in mediating immune cell-cell interactions. May act as a T-cell costimulatory molecule, enhancing anti-CD3-induced proliferation. May play a role in the interaction of dendritic cells with T-cells and the cells of the adaptive immune response. NA NA NA PE2 12 +NX_Q8IZS8 Voltage-dependent calcium channel subunit alpha-2/delta-3 1091 123011 5.53 1 Membrane;Nucleoplasm NA The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) but not T-type (CACNA1G) (By similarity). N-glycosylated.;May be proteolytically processed into subunits alpha-2-3 and delta-3 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role (By similarity). Belongs to the calcium channel subunit alpha-2/delta family. MAPK signaling pathway;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Presynaptic depolarization and calcium channel opening;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 3 +NX_Q8IZT6 Abnormal spindle-like microcephaly-associated protein 3477 409800 10.45 0 Cytoplasm;Cell membrane;Cytosol;Spindle;Nucleus Microcephaly 5, primary, autosomal recessive Involved in mitotic spindle regulation and coordination of mitotic processes. The function in regulating microtubule dynamics at spindle poles including spindle orientation, astral microtubule density and poleward microtubule flux seems to depend on the association with the katanin complex formed by KATNA1 and KATNB1. Enhances the microtubule lattice severing activity of KATNA1 by recruiting the katanin complex to microtubules. Can block microtubule minus-end growth and reversely this function can be enhanced by the katanin complex (PubMed:28436967). May have a preferential role in regulating neurogenesis. NA NA NA PE1 1 +NX_Q8IZT8 Heparan sulfate glucosamine 3-O-sulfotransferase 5 346 40408 9.8 1 Golgi apparatus membrane NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan. Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site. Also generates GlcUA-GlcNS or IdoUA-GlcNS and IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry. NA Belongs to the sulfotransferase 1 family. Glycosaminoglycan biosynthesis - heparan sulfate;HS-GAG biosynthesis PE1 6 +NX_Q8IZT9 Protein FAM9C 166 19210 5.16 0 Nucleus NA NA NA Belongs to the FAM9 family. NA PE1 X +NX_Q8IZU0 Protein FAM9B 186 22438 5.31 0 Nucleoplasm;Nucleus NA NA NA Belongs to the FAM9 family. NA PE1 X +NX_Q8IZU1 Protein FAM9A 332 37339 4.82 0 Nucleolus NA NA NA Belongs to the FAM9 family. NA PE1 X +NX_Q8IZU2 WD repeat-containing protein 17 1322 147703 6.01 0 Nucleus speckle NA NA NA NA NA PE1 4 +NX_Q8IZU3 Synaptonemal complex protein 3 236 27729 9.22 0 Centromere;Nucleus;Chromosome Spermatogenic failure 4;Pregnancy loss, recurrent, 4 Component of the synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for centromere pairing during meiosis in male germ cells (By similarity). Required for normal meiosis during spermatogenesis and male fertility (PubMed:14643120). Plays a lesser role in female fertility. Required for efficient phosphorylation of HORMAD1 and HORMAD2 (By similarity). Phosphorylated. Belongs to the XLR/SYCP3 family. Meiotic synapsis PE1 12 +NX_Q8IZU8 Dermatan-sulfate epimerase-like protein 1212 139238 8.48 2 Membrane;Nucleoplasm;Cell membrane NA NA NA Belongs to the dermatan-sulfate isomerase family. Dermatan sulfate biosynthesis PE1 18 +NX_Q8IZU9 Kin of IRRE-like protein 3 778 85255 6.46 1 Secreted;Cell membrane NA Synaptic adhesion molecule required for the formation of target-specific synapses. Required for formation of target-specific synapses at hippocampal mossy fiber synapses. Required for formation of mossy fiber filopodia, the synaptic structures connecting dentate granule and GABA neurons. Probably acts as a homophilic adhesion molecule that promotes trans-cellular interactions and stabilize mossy fiber filipodia contact and subsequent synapse formation. Required for the coalescence of vomeronasal sensory neuron axons. May be involved in the hematopoietic supportive capacity of stroma cells; the secreted extracellular domain is directly responsible for supporting hematopoietic stem cells. Undergoes proteolysis by a metalloprotease and gives rise to a soluble form. Belongs to the immunoglobulin superfamily. Nephrin family interactions PE1 11 +NX_Q8IZV2 CKLF-like MARVEL transmembrane domain-containing protein 8 173 19572 6.06 4 Membrane;Cytoplasm;Nucleoplasm;Nucleus NA NA NA Belongs to the chemokine-like factor family. NA PE1 3 +NX_Q8IZV5 Retinol dehydrogenase 10 341 38087 7.11 1 Microsome membrane;Endoplasmic reticulum membrane;Lipid droplet NA Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinol to all-trans-retinal. Has no detectable activity towards 11-cis-retinol, 9-cis-retinol and 13-cis-retinol. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Cofactor metabolism; retinol metabolism.;Retinol metabolism;Metabolic pathways;The canonical retinoid cycle in rods (twilight vision);RA biosynthesis pathway PE1 8 +NX_Q8IZW8 Tensin-4 715 76764 7.01 0 Focal adhesion;Cytoskeleton NA May be involved in cell migration, cartilage development and in linking signal transduction pathways to the cytoskeleton (By similarity). May promote apoptosis, via its cleavage by caspase-3. Proteolytically cleaved by caspase-3 during apoptosis. NA MET interacts with TNS proteins PE1 17 +NX_Q8IZX4 Transcription initiation factor TFIID subunit 1-like 1826 207302 5.26 0 Nucleus NA May act as a functional substitute for TAF1/TAFII250 during male meiosis, when sex chromosomes are transcriptionally silenced. NA Belongs to the TAF1 family. Basal transcription factors;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;Regulation of TP53 Activity through Phosphorylation PE1 9 +NX_Q8IZY2 Phospholipid-transporting ATPase ABCA7 2146 234350 6.85 15 Golgi apparatus;Cytoplasm;Cell membrane;Cell junction;Endoplasmic reticulum;Phagocytic cup;Golgi apparatus membrane;Early endosome membrane;Ruffle membrane Alzheimer disease 9 Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Transports preferentially phosphatidylserine over phosphatidylcholine (PubMed:24097981). Plays a role in lipid homeostasis and macrophage-mediated phagocytosis (PubMed:14592415, PubMed:12917409, PubMed:12925201, PubMed:14570867). Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells (PubMed:12917409, PubMed:14570867, PubMed:14592415). May also mediate cholesterol efflux (PubMed:14570867). May regulate cellular ceramide homeostasis during keratinocyte differentiation (PubMed:12925201). Involved in lipid raft organization and CD1D localization on thymocytes and antigen-presenting cells, which plays an important role in natural killer T-cell development and activation (By similarity). Plays a role in phagocytosis of apoptotic cells by macrophages (By similarity). Macrophage phagocytosis is stimulated by APOA1 or APOA2, probably by stabilization of ABCA7 (By similarity). Also involved in phagocytic clearance of amyloid-beta by microglia cells and macrophages (By similarity). Further limits amyloid-beta production by playing a role in the regulation of amyloid-beta A4 precursor protein (APP) endocytosis and/or processing (PubMed:26260791). Amyloid-beta is the main component of amyloid plaques found in the brains of Alzheimer patients (PubMed:26260791). N-glycosylated. Belongs to the ABC transporter superfamily. ABCA family. ABC transporters;ABC transporters in lipid homeostasis PE1 19 +NX_Q8IZY5 BH3-like motif-containing cell death inducer 108 12045 6.73 0 Cytoplasm;Mitochondrion NA Functions as a proapoptotic molecule through the caspase-dependent mitochondrial pathway of cell death. NA NA NA PE1 11 +NX_Q8J025 Protein APCDD1 514 58797 8.43 1 Cell membrane Hypotrichosis 1 Negative regulator of the Wnt signaling pathway. Inhibits Wnt signaling in a cell-autonomous manner and functions upstream of beta-catenin. May act via its interaction with Wnt and LRP proteins. May play a role in colorectal tumorigenesis. N-Glycosylated. Belongs to the APCDD1 family. NA PE1 18 +NX_Q8MH63 Putative L-type amino acid transporter 1-like protein MLAS 180 18779 6.72 3 Membrane NA NA NA Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. NA PE5 16 +NX_Q8N0S2 Synaptonemal complex central element protein 1 351 39699 5.89 0 Chromosome;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus Spermatogenic failure, 15;Premature ovarian failure 12 Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Requires SYCP1 in order to be incorporated into the central element. May have a role in the synaptonemal complex assembly, stabilization and recombination. NA Belongs to the SYCE family. Meiotic synapsis PE1 10 +NX_Q8N0S6 Centromere protein L 344 38998 6.08 0 Centromere;Nucleus NA Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. NA Belongs to the CENP-L/IML3 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Deposition of new CENPA-containing nucleosomes at the centromere;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 1 +NX_Q8N0T1 Ribosomal biogenesis factor 100 11456 10.46 0 Nucleoplasm;Cytosol;Mitochondrion;Nucleolus NA Trans-acting factor in ribosome biogenesis required for efficient 40S and 60S subunit production. NA NA NA PE1 8 +NX_Q8N0U2 Transmembrane protein 61 210 22170 4.54 2 Membrane NA NA NA NA NA PE2 1 +NX_Q8N0U4 Protein FAM185A 392 42301 8.22 0 Cytosol NA NA NA NA NA PE1 7 +NX_Q8N0U6 Putative uncharacterized protein encoded by LINC00518 118 13361 4.89 0 NA NA NA NA NA NA PE5 6 +NX_Q8N0U7 Uncharacterized protein C1orf87 546 62035 8.82 0 NA NA NA NA NA NA PE1 1 +NX_Q8N0U8 Vitamin K epoxide reductase complex subunit 1-like protein 1 176 19836 9.28 4 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Involved in vitamin K metabolism. Can reduce inactive vitamin K 2,3-epoxide to active vitamin K (in vitro), and may contribute to vitamin K-mediated protection against oxidative stress. Plays a role in vitamin K-dependent gamma-carboxylation of Glu residues in target proteins. NA Belongs to the VKOR family. Metabolism of vitamin K PE1 7 +NX_Q8N0V1 Putative uncharacterized protein ZNF295-AS1 137 14971 9.08 0 NA NA NA NA NA NA PE5 21 +NX_Q8N0V3 Putative ribosome-binding factor A, mitochondrial 343 38359 8.01 0 Mitochondrion NA NA NA Belongs to the RbfA family. NA PE1 18 +NX_Q8N0V4 Leucine-rich repeat LGI family member 2 545 62298 6.47 0 Centrosome;Secreted NA NA NA NA LGI-ADAM interactions PE1 4 +NX_Q8N0V5 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase 402 45873 6.73 1 Golgi apparatus;Golgi apparatus membrane Cataract 13, with adult i phenotype Determines the expression of the blood group I antigen in erythrocytes.;Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells. NA Belongs to the glycosyltransferase 14 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways PE1 6 +NX_Q8N0W3 L-fucose kinase 1084 117623 5.84 0 Cytoplasmic vesicle Congenital disorder of glycosylation with defective fucosylation 2 Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides. NA Belongs to the GHMP kinase family. Fructose and mannose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;GDP-fucose biosynthesis PE1 16 +NX_Q8N0W4 Neuroligin-4, X-linked 816 91915 5.78 1 Postsynaptic density;Cell membrane Autism, X-linked 2;Asperger syndrome, X-linked, 2 Putative neuronal cell surface protein involved in cell-cell-interactions. NA Belongs to the type-B carboxylesterase/lipase family. Cell adhesion molecules (CAMs);Neurexins and neuroligins PE1 X +NX_Q8N0W5 IQ domain-containing protein K 287 33292 8.49 0 Nucleus;Nucleus speckle;Nucleolus;Cytosol NA NA NA NA NA PE1 16 +NX_Q8N0W7 Fragile X mental retardation 1 neighbor protein 255 29241 9.19 2 Membrane NA NA NA NA NA PE1 X +NX_Q8N0X2 Sperm-associated antigen 16 protein 631 70818 5.9 0 Cytoplasm;Flagellum axoneme;Cell membrane;Cilium axoneme;Flagellum;Cytosol NA Necessary for sperm flagellar function. Plays a role in motile ciliogenesis. May help to recruit STK36 to the cilium or apical surface of the cell to initiate subsequent steps of construction of the central pair apparatus of motile cilia (By similarity). Phosphorylated by TSSK2.;SPAG16 is phosphorylated by TSSK2 NA NA PE1 2 +NX_Q8N0X4 Citramalyl-CoA lyase, mitochondrial 340 37359 8.88 0 Cytosol;Mitochondrion NA Mitochondrial citramalyl-CoA lyase indirectly involved in the vitamin B12 metabolism (PubMed:29056341). Converts citramalyl-CoA into acetyl-CoA and pyruvate in the C5-dicarboxylate catabolism pathway (PubMed:29056341). The C5-dicarboxylate catabolism pathway is required to detoxify itaconate, a vitamin B12-poisoning metabolite (PubMed:29056341). Also acts as a malate synthase in vitro, converting glyoxylate and acetyl-CoA to malate (PubMed:29056341, PubMed:24334609). Also displays malyl-CoA thioesterase activity (PubMed:29056341). Also acts as a beta-methylmalate synthase in vitro, by mediating conversion of glyoxylate and propionyl-CoA to beta-methylmalate (PubMed:24334609, PubMed:29056341). Also has very weak citramalate synthase activity in vitro (PubMed:24334609, PubMed:29056341). NA Belongs to the HpcH/HpaI aldolase family. Citrate lyase beta subunit-like subfamily. NA PE1 13 +NX_Q8N0X7 Spartin 666 72833 5.66 0 Cytoplasm;Cytosol;Midbody;Cell membrane Spastic paraplegia 20, autosomal recessive May be implicated in endosomal trafficking, or microtubule dynamics, or both. Participates in cytokinesis (PubMed:20719964). Ubiquitinated; ubiquitination does not require ITCH and WWP1. NA NA PE1 13 +NX_Q8N0Y2 Zinc finger protein 444 327 35204 8.9 0 Nucleoplasm;Nucleus;Nucleolus NA Transcriptional regulator. Binds to the 5'-flanking critical region of the SCARF1 promoter. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q8N0Y3 Olfactory receptor 4N4 316 35724 9.03 7 Centrosome;Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 15 +NX_Q8N0Y5 Olfactory receptor 8I2 310 34661 8.56 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8N0Y7 Probable phosphoglycerate mutase 4 254 28777 6.19 0 NA NA NA NA Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily. Glycolysis / Gluconeogenesis;Metabolic pathways PE1 X +NX_Q8N0Z2 Actin-binding Rho-activating protein 381 43117 8.7 0 Sarcomere;Cytoskeleton NA Acts as an activator of serum response factor (SRF)-dependent transcription possibly by inducing nuclear translocation of MKL1 or MKL2 and through a mechanism requiring Rho-actin signaling. NA NA NA PE1 8 +NX_Q8N0Z3 Spindle and centriole-associated protein 1 855 96264 7.03 0 Spindle;Centrosome;Centriole NA Regulator required for centriole duplication, for proper bipolar spindle formation and chromosome congression in mitosis. NA NA NA PE1 3 +NX_Q8N0Z6 Tetratricopeptide repeat protein 5 440 48928 6.05 0 Cytoplasm;Nucleoplasm;Nucleus NA Adapter protein involved in p53/TP53 response that acts by regulating and mediating the assembly of multi-protein complexes. Required to facilitate the interaction between JMY and p300/EP300 and increase p53/TP53-dependent transcription and apoptosis. Prevents p53/TP53 degradation by MDM2 (By similarity). Phosphorylation at Ser-203 enhances protein stability, regulates nuclear accumulation and association with p300/EP300. NA Regulation of TP53 Activity through Methylation PE1 14 +NX_Q8N0Z8 tRNA pseudouridine synthase-like 1 303 33233 9.89 0 Cytoplasmic vesicle NA NA NA Belongs to the tRNA pseudouridine synthase TruA family. NA PE1 1 +NX_Q8N0Z9 V-set and immunoglobulin domain-containing protein 10 540 59217 4.62 1 Membrane;Cytosol;Centriolar satellite;Cell membrane NA NA NA NA NA PE1 12 +NX_Q8N100 Protein atonal homolog 7 152 16871 9.61 0 Nucleus Persistent hyperplastic primary vitreous, autosomal recessive Transcription factor involved in the differentiation of retinal ganglion cells. NA NA NA PE1 10 +NX_Q8N103 T-cell activation Rho GTPase-activating protein 731 80703 6.04 0 Cytosol NA May function as a GTPase-activating protein and may play important roles during T-cell activation. NA NA Rho GTPase cycle PE1 6 +NX_Q8N104 Beta-defensin 106 65 7369 8.96 0 Membrane;Secreted NA Has antibacterial activity (PubMed:12600824). Acts as a ligand for C-C chemokine receptor CCR2 (PubMed:23938203). NA Belongs to the beta-defensin family. Beta defensins;Defensins PE1 8 +NX_Q8N108 Mesoderm induction early response protein 1 512 57983 4.34 0 Cytoplasm;Nucleoplasm;Nucleus NA Transcriptional repressor regulating the expression of a number of genes including SP1 target genes. Probably functions through recruitment of HDAC1 a histone deacetylase involved in chromatin silencing. NA NA NA PE1 1 +NX_Q8N109 Killer cell immunoglobulin-like receptor 2DL5A 375 40678 8.36 1 Cell membrane NA Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis. NA Belongs to the immunoglobulin superfamily. Antigen processing and presentation;Natural killer cell mediated cytotoxicity;Graft-versus-host disease PE3 19 +NX_Q8N111 Cell cycle exit and neuronal differentiation protein 1 149 14954 9.24 1 Membrane;Mitochondrion NA Involved in neuronal differentiation. NA Belongs to the CEND1 family. NA PE1 11 +NX_Q8N112 Leucine-rich single-pass membrane protein 2 164 17868 5.69 1 Membrane NA NA NA NA NA PE1 3 +NX_Q8N114 Protein shisa-5 240 25582 6.26 1 Endoplasmic reticulum membrane;Nucleus membrane NA Can induce apoptosis in a caspase-dependent manner and plays a role in p53/TP53-dependent apoptosis. NA Belongs to the shisa family. p53 signaling pathway;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 3 +NX_Q8N118 Cytochrome P450 4X1 509 58875 8.74 1 Microsome membrane;Endoplasmic reticulum membrane NA NA NA Belongs to the cytochrome P450 family. NA PE1 1 +NX_Q8N119 Matrix metalloproteinase-21 569 65043 9.19 0 Secreted Heterotaxy, visceral, 7, autosomal Plays a specialized role in the generation of left-right asymmetry during embryogenesis. May act as a negative regulator of the NOTCH-signaling pathway (PubMed:26429889, PubMed:26437028). Cleaves alpha-1-antitrypsin (PubMed:12617721). The precursor is cleaved by a furin endopeptidase. Belongs to the peptidase M10A family. NA PE2 10 +NX_Q8N122 Regulatory-associated protein of mTOR 1335 149038 6.43 0 Cytoplasmic vesicle;Cytoplasm;Cytoplasmic granule;Lysosome NA Involved in the control of the mammalian target of rapamycin complex 1 (mTORC1) activity which regulates cell growth and survival, and autophagy in response to nutrient and hormonal signals; functions as a scaffold for recruiting mTORC1 substrates. MTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. MTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E). MTORC1 phosphorylates and activates S6K1 at 'Thr-389', which then promotes protein synthesis by phosphorylating PDCD4 and targeting it for degradation. Involved in ciliogenesis. Insulin-stimulated phosphorylation at Ser-863 by MTOR and MAPK8 up-regulates mTORC1 activity. Osmotic stress also induces phosphorylation at Ser-696, Thr-706 and Ser-863 by MAPK8. Ser-863 phosphorylation is required for phosphorylation at Ser-855 and Ser-859. In response to nutrient limitation, phosphorylated by AMPK; phosphorylation promotes interaction with 14-3-3 proteins, leading to negative regulation of the mTORC1 complex. In response to growth factors, phosphorylated at Ser-719, Ser-721 and Ser-722 by RPS6KA1, which stimulates mTORC1 activity.;RPTOR is phosphorylated by RPS6KA2 (Phosphoserine:PTM-0253);RPTOR is phosphorylated by ULK2 Belongs to the WD repeat RAPTOR family. mTOR signaling pathway;Insulin signaling pathway;Macroautophagy;HSF1-dependent transactivation;TP53 Regulates Metabolic Genes;Energy dependent regulation of mTOR by LKB1-AMPK;mTOR signalling;mTORC1-mediated signalling;Regulation of PTEN gene transcription PE1 17 +NX_Q8N123 CPX chromosomal region candidate gene 1 protein 301 34727 8.9 0 NA NA NA NA NA NA PE2 X +NX_Q8N126 Cell adhesion molecule 3 398 43300 5.71 1 Cytosol;Cell junction;Cell membrane NA Involved in the cell-cell adhesion. Has both calcium-independent homophilic cell-cell adhesion activity and calcium-independent heterophilic cell-cell adhesion activity with IGSF4, NECTIN1 and NECTIN3. Interaction with EPB41L1 may regulate structure or function of cell-cell junctions (By similarity). NA Belongs to the nectin family. Cell adhesion molecules (CAMs);Adherens junctions interactions;Nectin/Necl trans heterodimerization PE1 1 +NX_Q8N127 Olfactory receptor 5AS1 324 36653 8.63 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8N128 Protein FAM177A1 213 23757 4.4 0 Nucleoplasm;Cytoplasmic vesicle NA NA NA Belongs to the FAM177 family. NA PE1 14 +NX_Q8N129 Protein canopy homolog 4 248 28310 4.6 0 Cytoplasmic vesicle;Secreted NA Plays a role in the regulation of the cell surface expression of TLR4. NA Belongs to the canopy family. NA PE1 7 +NX_Q8N130 Sodium-dependent phosphate transport protein 2C 599 63550 8.62 8 Membrane Hereditary hypophosphatemic rickets with hypercalciuria May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 20-30% of the apical influx. NA Belongs to the SLC34A transporter family. Type II Na+/Pi cotransporters;Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) PE1 9 +NX_Q8N131 Porimin 208 21531 8.76 1 Golgi apparatus;Cell membrane;Membrane;Cytoplasmic vesicle;Cytosol NA Implicated in oncotic cell death, characterized by cell swelling, organelle swelling, vacuolization and increased membrane permeability. NA Belongs to the CD164 family. NA PE1 11 +NX_Q8N135 Leucine-rich repeat LGI family member 4 537 59141 7.28 0 Golgi apparatus;Secreted Arthrogryposis multiplex congenita, neurogenic, with myelin defect Component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation (By similarity). NA NA LGI-ADAM interactions PE1 19 +NX_Q8N136 Dynein assembly factor with WDR repeat domains 1 415 45777 6.12 0 Nucleoplasm;Cilium;Nucleus;Cell membrane NA May play a role in axonemal outer row dynein assembly. NA Belongs to the WD repeat WDR69 family. NA PE1 2 +NX_Q8N137 Centrobin 903 101253 5.41 0 Cytosol;Centrosome;Centriole NA Required for centriole duplication. Inhibition of centriole duplication leading to defects in cytokinesis. CNTROB is phosphorylated by NEK2 NA NA PE1 17 +NX_Q8N138 ORM1-like protein 3 153 17495 9.64 2 Endoplasmic reticulum membrane Asthma Negative regulator of sphingolipid synthesis. May indirectly regulate endoplasmic reticulum-mediated Ca(+2) signaling. NA Belongs to the ORM family. Sphingolipid de novo biosynthesis;Neutrophil degranulation PE1 17 +NX_Q8N139 ATP-binding cassette sub-family A member 6 1617 184286 7.05 14 Membrane;Nucleoplasm NA Probable transporter which may play a role in macrophage lipid homeostasis. NA Belongs to the ABC transporter superfamily. ABCA family. ABC transporters;ABC transporters in lipid homeostasis;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 17 +NX_Q8N140 EP300-interacting inhibitor of differentiation 3 333 38168 5.03 0 Cytoplasm;Nucleolus;Nucleoplasm;Telomere;Nucleus NA Acts as a repressor of nuclear receptor-dependent transcription possibly by interfering with CREBBP-dependent coactivation. May function as a coinhibitor of other CREBBP/EP300-dependent transcription factors.;Tissue-specific component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination and mediates sumoylation of shelterin complex (telosome) components. NA Belongs to the NSE4 family. SUMOylation of DNA damage response and repair proteins PE1 12 +NX_Q8N141 Zinc finger protein 82 homolog 532 62578 9.2 0 Nucleoplasm;Cytosol;Nucleus membrane;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q8N142 Adenylosuccinate synthetase isozyme 1 457 50208 8.76 0 Cytoplasm Myopathy, distal, 5 Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP. NA Belongs to the adenylosuccinate synthetase family. Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 1/2.;Purine metabolism;Alanine, aspartate and glutamate metabolism;Metabolic pathways;Purine ribonucleoside monophosphate biosynthesis PE1 14 +NX_Q8N143 B-cell CLL/lymphoma 6 member B protein 479 51531 9.23 0 Cytoplasmic vesicle;Nucleus NA Acts as a sequence-specific transcriptional repressor in association with BCL6. May function in a narrow stage or be related to some events in the early B-cell development. NA NA NA PE1 17 +NX_Q8N144 Gap junction delta-3 protein 294 31933 8.94 4 Gap junction;Cell membrane NA One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. NA Belongs to the connexin family. Delta-type subfamily. Gap junction assembly PE1 17 +NX_Q8N145 Leucine-rich repeat LGI family member 3 548 61704 8.15 0 Cytosol;Secreted;Synaptic vesicle;Synaptosome NA May participate in the regulation of neuronal exocytosis. NA NA LGI-ADAM interactions PE1 8 +NX_Q8N146 Olfactory receptor 8H3 312 35219 8.53 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8N148 Olfactory receptor 6V1 313 34902 8.32 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 7 +NX_Q8N149 Leukocyte immunoglobulin-like receptor subfamily A member 2 483 52992 6.43 1 Secreted;Cell membrane NA Part of the innate immune responses against microbial infection (PubMed:12529506, PubMed:27572839). Specifically recognizes a set of N-terminally truncated immunoglobulins that are produced via cleavage by proteases from a range of pathogenic bacteria and fungi, including L.pneumophila, M.hyorhinis, S.pneumoniae, S.aureus and C.albicans (PubMed:27572839). Recognizes epitopes that are in part in the variable region of the immunoglobulin light chains, but requires also the constant region for signaling (PubMed:27572839). Binds to a subset of cleaved IgM, IgG3 and IgG4 molecules, but does not bind cleaved IgA1 (PubMed:27572839). Binding of N-terminally truncated immunoglobulins mediates activation of neutrophils (PubMed:27572839). In monocytes, activation leads to the release of CSF2, CF3, IL6, CXCL8 and CCL3 and down-regulates responses to bacterial lipopolysaccharide (LPS), possibly via down-regulation of TLR4 expression and reduced signaling via TLR4 (PubMed:22479404). In eosinophils, activation by ligand binding leads to the release of RNASE2, IL4 and leukotriene C4 (PubMed:12529506). Does not bind class I MHC antigens (PubMed:19230061). NA NA Osteoclast differentiation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_Q8N157 Jouberin 1196 137115 6.67 0 Cytoplasm;Centriole;Adherens junction;Cilium basal body;Centrosome Joubert syndrome 3 Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382). NA NA Anchoring of the basal body to the plasma membrane PE1 6 +NX_Q8N158 Glypican-2 579 62830 8.33 0 Endoplasmic reticulum;Extracellular space;Cell membrane NA Cell surface proteoglycan that bears heparan sulfate. May fulfill a function related to the motile behaviors of developing neurons (By similarity). NA Belongs to the glypican family. Retinoid metabolism and transport;HS-GAG biosynthesis;A tetrasaccharide linker sequence is required for GAG synthesis;HS-GAG degradation;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;Defective EXT2 causes exostoses 2;Defective EXT1 causes exostoses 1, TRPS2 and CHDS;Defective B3GALT6 causes EDSP2 and SEMDJL1 PE1 7 +NX_Q8N159 N-acetylglutamate synthase, mitochondrial 534 58156 9.12 0 Mitochondrion matrix;Mitochondrion N-acetylglutamate synthase deficiency Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPS1) activity. Probably processed by mitochondrial processing peptidase (MPP). The long form has not yet been isolated (By similarity). Belongs to the acetyltransferase family. Amino-acid biosynthesis; L-arginine biosynthesis; N(2)-acetyl-L-ornithine from L-glutamate: step 1/4.;Arginine and proline metabolism;Metabolic pathways;Urea cycle PE1 17 +NX_Q8N162 Olfactory receptor 8H2 312 35422 9.03 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8N163 Cell cycle and apoptosis regulator protein 2 923 102902 5.14 0 Nucleoplasm;Cytoplasm;Nucleus NA Core component of the DBIRD complex, a multiprotein complex that acts at the interface between core mRNP particles and RNA polymerase II (RNAPII) and integrates transcript elongation with the regulation of alternative splicing: the DBIRD complex affects local transcript elongation rates and alternative splicing of a large set of exons embedded in (A + T)-rich DNA regions. Inhibits SIRT1 deacetylase activity leading to increasing levels of p53/TP53 acetylation and p53-mediated apoptosis. Inhibits SUV39H1 methyltransferase activity. As part of a histone H3-specific methyltransferase complex may mediate ligand-dependent transcriptional activation by nuclear hormone receptors. Plays a critical role in maintaining genomic stability and cellular integrity following UV-induced genotoxic stress. Regulates the circadian expression of the core clock components NR1D1 and ARNTL/BMAL1. Enhances the transcriptional repressor activity of NR1D1 through stabilization of NR1D1 protein levels by preventing its ubiquitination and subsequent degradation (PubMed:18235501, PubMed:18235502, PubMed:19131338, PubMed:19218236, PubMed:22446626, PubMed:23352644, PubMed:23398316). Represses the ligand-dependent transcriptional activation function of ESR2 (PubMed:20074560). Acts as a regulator of PCK1 expression and gluconeogenesis by a mechanism that involves, at least in part, both NR1D1 and SIRT1 (PubMed:24415752). Negatively regulates the deacetylase activity of HDAC3 and can alter its subcellular localization (PubMed:21030595). Positively regulates the beta-catenin pathway (canonical Wnt signaling pathway) and is required for MCC-mediated repression of the beta-catenin pathway (PubMed:24824780). Represses ligand-dependent transcriptional activation function of NR1H2 and NR1H3 and inhibits the interaction of SIRT1 with NR1H3 (PubMed:25661920). Plays an important role in tumor suppression through p53/TP53 regulation; stabilizes p53/TP53 by affecting its interaction with ubiquitin ligase MDM2 (PubMed:25732823). Represses the transcriptional activator activity of BRCA1 (PubMed:20160719). Inhibits SIRT1 in a CHEK2 and PSEM3-dependent manner and inhibits the activity of CHEK2 in vitro (PubMed:25361978). ATM/ATR-mediated phosphorylation at Thr-454 upon DNA damage promotes binding to SIRT1. Phosphorylation at Thr-454 promotes its sumoylation by switching the binding partner of CCAR2 from SENP1 to PIAS3.;Acetylation at Lys-112 and Lys-215 by KAT8 prevents inhibitory binding to SIRT1 and increases its deacetylase activity.;Genotoxic stress induces its sumoylation and sumoylation promotes the SIRT1-CCAR2 interaction which in turn inhibits SIRT1-mediated deacetylation of p53/TP53. Sumoylation leads to transcriptional activation of p53/TP53 by sequestering SIRT1 from p53/TP53. Desumoylated by SENP1. NA Regulation of HSF1-mediated heat shock response PE1 8 +NX_Q8N165 Serine/threonine-protein kinase PDIK1L 341 38546 6.42 0 Nucleoplasm;Nucleus NA NA NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. NA PE1 1 +NX_Q8N183 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 169 19856 8.94 0 Mitochondrion Mitochondrial complex I deficiency, nuclear type 10 Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211, PubMed:19384974). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:16200211, PubMed:27626371). NA Belongs to the complex I NDUFA12 subunit family. Complex I biogenesis PE1 5 +NX_Q8N184 Zinc finger protein 567 647 75164 9.3 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8N187 Calcium-responsive transcription factor 725 80698 5.47 0 Nucleus;Cytosol;Nucleolus;Cytoplasmic vesicle NA Acts as a transcriptional activator that mediates the calcium- and neuron-selective induction of BDNF exon III transcription. Binds to the consensus calcium-response element CaRE1 5'-CTATTTCGAG-3' sequence. NA NA NA PE1 2 +NX_Q8N196 Homeobox protein SIX5 739 74562 4.93 0 Cytoplasm;Nucleus Branchiootorenal syndrome 2 Transcription factor that is thought to be involved in regulation of organogenesis. May be involved in determination and maintenance of retina formation. Binds a 5'-GGTGTCAG-3' motif present in the ARE regulatory element of ATP1A1. Binds a 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the myogenin promoter, and in the IGFBP5 promoter (By similarity). Thought to be regulated by association with Dach and Eya proteins, and seems to be coactivated by EYA1, EYA2 and EYA3 (By similarity). NA Belongs to the SIX/Sine oculis homeobox family. NA PE1 19 +NX_Q8N1A0 Keratin-like protein KRT222 295 34158 5.63 0 Cytoplasmic vesicle;Lipid droplet NA NA NA Belongs to the intermediate filament family. NA PE1 17 +NX_Q8N1A6 UPF0462 protein C4orf33 199 23468 5.27 0 Golgi apparatus;Nucleus NA NA NA Belongs to the UPF0462 family. NA PE1 4 +NX_Q8N1B3 Cyclin-Q 248 28369 5.84 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Toe syndactyly, telecanthus, and anogenital and renal malformations Activating cyclin for the cyclin-associated kinase CDK10. NA Belongs to the cyclin family. Cyclin-like FAM58 subfamily. NA PE1 X +NX_Q8N1B4 Vacuolar protein sorting-associated protein 52 homolog 723 82221 5.7 0 Recycling endosome;trans-Golgi network membrane;Endosome membrane NA Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (PubMed:15878329, PubMed:18367545). Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061). NA Belongs to the VPS52 family. Retrograde transport at the Trans-Golgi-Network PE1 6 +NX_Q8N1C3 Gamma-aminobutyric acid receptor subunit gamma-1 465 53595 8.39 4 Cell membrane;Postsynaptic cell membrane NA GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. May be palmitoylated. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG1 sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse PE1 4 +NX_Q8N1D0 Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein 253 27061 9.87 0 Nucleoplasm;Nucleus NA NA NA NA NA PE2 11 +NX_Q8N1D5 Uncharacterized protein C1orf158 194 23067 9.73 0 Cytosol NA NA NA NA NA PE1 1 +NX_Q8N1E2 Lysozyme g-like protein 1 194 21431 8.47 0 Secreted NA NA NA Belongs to the glycosyl hydrolase 23 family. NA PE2 2 +NX_Q8N1E6 F-box/LRR-repeat protein 14 418 45886 9.15 0 Golgi apparatus;Cytoplasm;Cytosol;Nucleoplasm NA Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin-protein ligase complexes. The SCF(FBXL14) complex acts by mediating ubiquitination and subsequent degradation of SNAI1. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 12 +NX_Q8N1F7 Nuclear pore complex protein Nup93 819 93488 5.5 0 Nucleus;Nucleus envelope;Nucleus membrane;Nuclear pore complex Nephrotic syndrome 12 Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540). May anchor nucleoporins, but not NUP153 and TPR, to the NPC. During renal development, regulates podocyte migration and proliferation through SMAD4 signaling (PubMed:26878725). NA Belongs to the nucleoporin interacting component (NIC) family. RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 16 +NX_Q8N1F8 Serine/threonine-protein kinase 11-interacting protein 1088 120259 5.24 0 Cytoplasmic vesicle;Cytoplasm NA May regulate STK11/LKB1 function by controlling its subcellular localization. NA Belongs to the STK11IP family. Neutrophil degranulation PE1 2 +NX_Q8N1G0 Zinc finger protein 687 1237 129529 8.56 0 Cytoplasm;Nucleoplasm;Nucleus Paget disease of bone 6 May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 1 +NX_Q8N1G1 RNA exonuclease 1 homolog 1221 131510 9.12 0 Nucleoplasm;Nucleus NA Seems to have no detectable effect on transcription elongation in vitro. NA Belongs to the REXO1/REXO3 family. Ribosome biogenesis in eukaryotes PE1 19 +NX_Q8N1G2 Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 835 95321 6.64 0 Nucleoplasm;Cytosol;Nucleus NA S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap1 2'-O-ribose methylation to the 5'-cap structure of mRNAs. Methylates the ribose of the first nucleotide of a m(7)GpppG-capped mRNA and small nuclear RNA (snRNA) to produce m(7)GpppRm (cap1). Displays a preference for cap0 transcripts. Cap1 modification is linked to higher levels of translation. May be involved in the interferon response pathway. NA NA NA PE1 6 +NX_Q8N1G4 Leucine-rich repeat-containing protein 47 583 63473 8.55 0 Nucleolus NA NA NA NA NA PE1 1 +NX_Q8N1H7 Protein SIX6OS1 587 68166 5.39 0 Nucleoplasm;Nucleolus;Chromosome NA Meiotic protein that localizes to the central element of the synaptonemal complex and is required for chromosome synapsis during meiotic recombination. Required for the appropriate processing of intermediate recombination nodules before crossover formation. NA NA NA PE1 14 +NX_Q8N1I0 Dedicator of cytokinesis protein 4 1966 225206 7.57 0 Golgi apparatus;Cell membrane;Cell projection;Nucleolus;Cytosol NA Involved in regulation of adherens junction between cells. Plays a role in cell migration. Functions as a guanine nucleotide exchange factor (GEF), which activates Rap1 small GTPase by exchanging bound GDP for free GTP. NA Belongs to the DOCK family. Factors involved in megakaryocyte development and platelet production PE1 7 +NX_Q8N1I8 Putative uncharacterized protein encoded by CACTIN-AS1 211 22698 6.31 0 NA NA NA NA NA NA PE2 19 +NX_Q8N1K5 Protein THEMIS 641 73452 5.62 0 Cytoplasm;Nucleus NA Plays a central role in late thymocyte development by controlling both positive and negative T-cell selection. Required to sustain and/or integrate signals required for proper lineage commitment and maturation of T-cells. Regulates T-cell development through T-cell antigen receptor (TCR) signaling and in particular through the regulation of calcium influx and phosphorylation of Erk. Phosphorylated on Tyr residues quickly after TCR stimulation. Belongs to the themis family. NA PE1 6 +NX_Q8N1L1 Putative uncharacterized protein encoded by LINC00528 170 18115 6.03 0 NA NA NA NA NA NA PE5 22 +NX_Q8N1L4 Putative inactive cytochrome P450 family member 4Z2 340 40159 9.25 1 Membrane NA NA NA Belongs to the cytochrome P450 family. NA PE5 1 +NX_Q8N1L9 Basic leucine zipper transcriptional factor ATF-like 2 274 29398 7.2 0 Nucleolus;Nucleus NA AP-1 family transcription factor that controls the differentiation of lineage-specific cells in the immune system. Following infection, participates in the differentiation of CD8(+) thymic conventional dendritic cells in the immune system. Acts via the formation of a heterodimer with JUN family proteins that recognizes and binds DNA sequence 5'-TGA[CG]TCA-3' and regulates expression of target genes (By similarity). Selectively suppresses CCN1 transcription and hence blocks the downstream cell proliferation signals produced by CCN1 and inhibits CCN1-induced anchorage-independent growth and invasion in several cancer types, such as breast cancer, malignant glioma and metastatic melanoma. Possibly acts by interfering with AP-1 binding to CCN1 promoter. NA Belongs to the bZIP family. NA PE1 11 +NX_Q8N1M1 Bestrophin-3 668 76107 6.13 4 Cytoplasm;Cell membrane NA Forms calcium-sensitive chloride channels. Permeable to bicarbonate. NA Belongs to the bestrophin family. Stimuli-sensing channels PE2 12 +NX_Q8N1N0 C-type lectin domain family 4 member F 589 65519 6.23 1 Membrane NA Receptor with an affinity for galactose and fucose. Could be involved in endocytosis (By similarity). NA NA NA PE2 2 +NX_Q8N1N2 Dynactin-associated protein 210 22529 5.27 1 Golgi apparatus membrane;Cell membrane NA Plays a role in the regulation of cell proliferation. Promotes activation of the AKT1 signaling pathway. Promotes phosphorylation of AKT1 at 'Ser-473'. NA NA NA PE1 18 +NX_Q8N1N4 Keratin, type II cytoskeletal 78 520 56866 5.79 0 NA NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_Q8N1N5 Cysteine-rich PAK1 inhibitor 446 48076 8.42 0 Membrane;Cytoplasm;Nucleus NA Negative regulator of PAK1. It has been suggested that the lost of CRIPAK in breast tumors might contribute to hormonal independence. NA NA NA PE1 4 +NX_Q8N1P7 Beta/gamma crystallin domain-containing protein 2 1661 177913 5.74 0 Nucleoplasm NA NA NA Belongs to the beta/gamma-crystallin family. NA PE1 1 +NX_Q8N1Q1 Carbonic anhydrase 13 262 29443 6.45 0 Nucleoplasm;Nucleolus;Cytoplasmic vesicle NA Reversible hydration of carbon dioxide. NA Belongs to the alpha-carbonic anhydrase family. Nitrogen metabolism;Reversible hydration of carbon dioxide PE1 8 +NX_Q8N1Q8 Acyl-coenzyme A thioesterase THEM5 247 27677 7.61 0 Mitochondrion matrix NA Has acyl-CoA thioesterase activity towards long-chain (C16 and C18) fatty acyl-CoA substrates, with a preference for linoleoyl-CoA and other unsaturated long-chain fatty acid-CoA esters (PubMed:22586271). Plays an important role in mitochondrial fatty acid metabolism, and in remodeling of the mitochondrial lipid cardiolipin (PubMed:22586271). Required for normal mitochondrial function (PubMed:22586271). NA Belongs to the THEM4/THEM5 thioesterase family. Mitochondrial Fatty Acid Beta-Oxidation PE1 1 +NX_Q8N1S5 Zinc transporter ZIP11 342 35396 5.44 7 Golgi apparatus;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus NA Functions as a cellular zinc transporter. NA Belongs to the ZIP transporter (TC 2.A.5) family. NA PE1 17 +NX_Q8N1T3 Unconventional myosin-Ih 1032 119037 9.19 0 NA NA Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. NA PE1 12 +NX_Q8N1V2 Cilia- and flagella-associated protein 52 620 68298 6.51 0 Cytoplasm;Flagellum NA May play a role in cell growth and/or survival. NA Belongs to the CFAP52 family. NA PE1 17 +NX_Q8N1V8 Uncharacterized protein encoded by LINC01561 128 13299 7.66 0 NA NA NA NA NA NA PE5 10 +NX_Q8N1W1 Rho guanine nucleotide exchange factor 28 1705 191891 5.69 0 Cytoplasm;Cytosol;Cytoskeleton;Cell membrane NA Functions as a RHOA-specific guanine nucleotide exchange factor regulating signaling pathways downstream of integrins and growth factor receptors. Functions in axonal branching, synapse formation and dendritic morphogenesis. Functions also in focal adhesion formation, cell motility and B-lymphocytes activation. May regulate NEFL expression and aggregation and play a role in apoptosis (By similarity). Phosphorylated on tyrosine upon stimulation of cells by laminin. NA EPHB-mediated forward signaling PE1 5 +NX_Q8N1W2 Zinc finger protein 710 664 74461 6.33 0 Nucleoplasm;Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 15 +NX_Q8N1X5 Uncharacterized protein FLJ37310 172 16487 12.11 0 NA NA NA NA NA NA PE2 6 +NX_Q8N1Y9 Putative uncharacterized protein FLJ37218 231 24915 6.89 1 Membrane NA NA NA NA NA PE5 9 +NX_Q8N201 Integrator complex subunit 1 2190 244297 5.77 1 Nucleoplasm;Nucleus membrane NA Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267). NA Belongs to the Integrator subunit 1 family. RNA polymerase II transcribes snRNA genes PE1 7 +NX_Q8N205 Nesprin-4 404 43512 5.48 1 Nucleus outer membrane Deafness, autosomal recessive, 76 As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning (By similarity). Behaves as a kinesin cargo, providing a functional binding site for kinesin-1 at the nuclear envelope. Hence may contribute to the establishment of secretory epithelial morphology by promoting kinesin-dependent apical migration of the centrosome and Golgi apparatus and basal localization of the nucleus (By similarity). The disulfid bond with SUN1 or SUN2 is required for stability of the respective LINC complex under tensile forces. Belongs to the nesprin family. NA PE1 19 +NX_Q8N228 Sex comb on midleg-like protein 4 414 45023 9.78 0 Nucleoplasm;Nucleus NA Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development (By similarity). NA Belongs to the SCM family. NA PE1 6 +NX_Q8N239 Kelch-like protein 34 644 70612 5.41 0 NA NA NA NA NA NA PE1 X +NX_Q8N257 Histone H2B type 3-B 126 13908 10.31 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons.;GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes (By similarity).;Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination. Belongs to the histone H2B family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;G2/M DNA damage checkpoint;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Ub-specific processing proteases;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 1 +NX_Q8N264 Rho GTPase-activating protein 24 748 84258 6.24 0 Cell membrane;Adherens junction;Focal adhesion;Cell projection;Cytosol;Cytoskeleton NA Is a vascular cell-specific GAP involved in modulation of angiogenesis.;Rho GTPase-activating protein involved in cell polarity, cell morphology and cytoskeletal organization. Acts as a GTPase activator for the Rac-type GTPase by converting it to an inactive GDP-bound state. Controls actin remodeling by inactivating Rac downstream of Rho leading to suppress leading edge protrusion and promotes cell retraction to achieve cellular polarity. Able to suppress RAC1 and CDC42 activity in vitro. Overexpression induces cell rounding with partial or complete disruption of actin stress fibers and formation of membrane ruffles, lamellipodia, and filopodia. Phosphorylated by ROCK, leading to activate the RacGAP activity. NA Rho GTPase cycle PE1 4 +NX_Q8N268 Uncharacterized protein C20orf197 126 14459 9.37 0 NA NA NA NA NA NA PE2 20 +NX_Q8N271 Prominin-2 834 91883 5.8 5 Cell membrane;Basolateral cell membrane;Cell junction;Microvillus membrane;Nucleoplasm;Cilium membrane;Apical cell membrane NA NA Glycosylated. Belongs to the prominin family. NA PE1 2 +NX_Q8N283 Ankyrin repeat domain-containing protein 35 1001 109966 5.76 0 Nucleoplasm;Cell membrane NA NA NA NA NA PE1 1 +NX_Q8N292 Protein GAPT 157 17883 8.67 1 Cell membrane NA Negatively regulates B-cell proliferation following stimulation through the B-cell receptor. May play an important role in maintenance of marginal zone (MZ) B-cells (By similarity). NA Belongs to the GAPT family. NA PE1 5 +NX_Q8N2A0 Putative uncharacterized protein encoded by LINC00269 174 18329 6.74 0 NA NA NA NA NA NA PE5 X +NX_Q8N2A8 Mitochondrial cardiolipin hydrolase 252 28273 9.53 1 Mitochondrion outer membrane NA Endonuclease that plays a critical role in PIWI-interacting RNA (piRNA) biogenesis during spermatogenesis. PiRNAs provide essential protection against the activity of mobile genetic elements (By similarity). PiRNA-mediated transposon silencing is thus critical for maintaining genome stability, in particular in germline cells when transposons are mobilized as a consequence of wide-spread genomic demethylation (By similarity). Has been proposed to act as a cardiolipin hydrolase to generate phosphatidic acid at mitochondrial surface (By similarity). Although it cannot be excluded that it can act as a phospholipase in some circumstances, it should be noted that cardiolipin hydrolase activity is either undetectable in vitro, or very low (PubMed:21397848). In addition, cardiolipin is almost exclusively found on the inner mitochondrial membrane, while PLD6 localizes to the outer mitochondrial membrane, facing the cytosol (PubMed:21397848). Has been shown to be a backbone-non-specific, single strand-specific nuclease, cleaving either RNA or DNA substrates with similar affinity. Produces 5' phosphate and 3' hydroxyl termini, suggesting it could directly participate in the processing of primary piRNA transcripts (By similarity). Also acts as a regulator of mitochondrial shape through facilitating mitochondrial fusion (PubMed:17028579, PubMed:26711011). NA Belongs to the phospholipase D family. MitoPLD/Zucchini subfamily. PIWI-interacting RNA (piRNA) biogenesis;Synthesis of PA;Synthesis of PG PE1 17 +NX_Q8N2B8 Putative uncharacterized protein FLJ33534 174 19079 11.57 0 NA NA NA NA NA NA PE2 2 +NX_Q8N2C3 DEP domain-containing protein 4 294 33694 6.71 0 Cytoskeleton NA NA NA NA NA PE2 12 +NX_Q8N2C7 Protein unc-80 homolog 3258 363390 6.4 4 Membrane;Cytoplasmic vesicle;Nucleus Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 Component of the NALCN sodium channel complex, required for channel regulation. This complex is a cation channel activated by neuropeptides substance P, neurotensin, and extracellular calcium that regulates neuronal excitability by controlling the sizes of NALCN-dependent sodium-leak current. UNC80 is essential for NALCN sensitivity to extracellular calcium. Phosphorylated on tyrosine residues. Belongs to the unc-80 family. Stimuli-sensing channels PE1 2 +NX_Q8N2C9 Uncharacterized protein UMODL1-AS1 162 18019 7.18 0 NA NA NA NA NA NA PE2 21 +NX_Q8N2E2 von Willebrand factor D and EGF domain-containing protein 1590 176780 5.42 0 Nucleoplasm;Cytosol;Secreted NA NA NA NA NA PE1 7 +NX_Q8N2E6 Prosalusin 242 26262 10.17 0 Secreted NA Salusins -alpha and -beta may be endocrine and/or paracrine factors able to increase intracellular calcium concentrations and induce cell mitogenesis. Salusins may also be potent hypotensive peptides. Amidation of salusin-alpha(29-Gly) by peptidylglycine alpha-amidating monooxygenase, PAM, converts Lys-241-Gly-242 to Lys-241-NH2 and gives raise to salusin-alpha. Belongs to the ClpA/ClpB family. Torsin subfamily. NA PE1 9 +NX_Q8N2F6 Armadillo repeat-containing protein 10 343 37540 6.16 1 Endoplasmic reticulum membrane;Mitochondrion NA May play a role in cell survival and cell growth. May suppress the transcriptional activity of p53/TP53. NA NA NA PE1 7 +NX_Q8N2G4 Ly6/PLAUR domain-containing protein 1 141 15240 8.4 0 Endoplasmic reticulum;Cell membrane NA Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro increases receptor desensitization and decreases affinity for ACh of alpha-4:beta-2-containing nAChRs. May play a role in the intracellular trafficking of alpha-4:beta-2 and alpha-7-containing nAChRs and may inhibit their expression at the cell surface. May be involved in the control of anxiety. NA NA Post-translational modification: synthesis of GPI-anchored proteins PE1 2 +NX_Q8N2G6 Zinc finger CCHC domain-containing protein 24 241 26955 8.97 0 Nucleoplasm;Mitochondrion NA NA NA NA NA PE1 10 +NX_Q8N2G8 GH3 domain-containing protein 530 57523 8.05 0 Endoplasmic reticulum;Nucleus envelope NA NA Methylated at Gln-489 by N6AMT1. Belongs to the GH3 family. Neutrophil degranulation PE1 17 +NX_Q8N2H3 Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 581 63068 6.47 0 Mitochondrion NA Probable oxidoreductase. NA Belongs to the carotenoid/retinoid oxidoreductase family. NA PE1 10 +NX_Q8N2H4 Protein SYS1 homolog 156 17615 7.62 4 Golgi apparatus membrane NA Involved in protein trafficking. May serve as a receptor for ARFRP1. NA Belongs to the SYS1 family. Retrograde transport at the Trans-Golgi-Network PE1 20 +NX_Q8N2H9 E3 ubiquitin-protein ligase pellino homolog 3 469 50755 7.24 0 Nucleoplasm;Nucleolus;Cytoplasmic vesicle NA E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates 'Lys-63'-linked polyubiquitination of IRAK1. Can activate AP1/JUN and ELK1. Not required for NF-kappa-B activation. Phosphorylated by IRAK1 enhancing its E3 ligase activity.;PELI3 is phosphorylated by IRAK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the pellino family. Protein modification; protein ubiquitination.;IRAK1 recruits IKK complex;IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation;Interleukin-1 signaling PE1 11 +NX_Q8N2I2 Zinc finger protein 619 560 63322 8.72 0 Nucleoplasm;Nucleus;Cytoskeleton NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 3 +NX_Q8N2I9 Serine/threonine-protein kinase 40 435 49001 8.04 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA May be a negative regulator of NF-kappa-B and p53-mediated gene transcription. NA Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. NA PE1 1 +NX_Q8N2K0 Lysophosphatidylserine lipase ABHD12 398 45097 8.87 1 Endoplasmic reticulum membrane Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes (PubMed:25290914, PubMed:30237167, PubMed:30420694, PubMed:30720278, PubMed:30643283). Represents a major lysophosphatidylserine lipase in the brain, thereby playing a key role in the central nervous system (By similarity). Also able to hydrolyze oxidized phosphatidylserine; oxidized phosphatidylserine is produced in response to severe inflammatory stress and constitutes a proapoptotic 'eat me' signal (PubMed:30643283). Also has monoacylglycerol (MAG) lipase activity: hydrolyzes 2-arachidonoylglycerol (2-AG), thereby acting as a regulator of endocannabinoid signaling pathways (PubMed:22969151, PubMed:24027063). Has a strong preference for very-long-chain lipid substrates; substrate specificity is likely due to improved catalysis and not improved substrate binding (PubMed:30237167). Glycosylated; glycosylation is required for optimal activity. Belongs to the serine esterase family. Arachidonate production from DAG PE1 20 +NX_Q8N2K1 Ubiquitin-conjugating enzyme E2 J2 259 28898 8.6 1 Endoplasmic reticulum membrane NA Catalyzes the covalent attachment of ubiquitin to other proteins. Seems to function in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD). Auto-ubiquitinated. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;Parkinson's disease;Antigen processing: Ubiquitination & Proteasome degradation;E3 ubiquitin ligases ubiquitinate target proteins;Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 1 +NX_Q8N2M4 Lysoplasmalogenase-like protein TMEM86A 240 26398 8.92 7 Membrane;Golgi apparatus;Nucleoplasm NA NA NA Belongs to the TMEM86 family. NA PE2 11 +NX_Q8N2M8 CLK4-associating serine/arginine rich protein 674 77161 10.44 0 Nucleoplasm;Nucleus NA Probably functions as an alternative splicing regulator. May regulate the mRNA splicing of genes such as CLK1. May act by regulating members of the CLK kinase family (By similarity). Phosphorylated in vitro by CLK4.;CLASRP is phosphorylated by CLK4 Belongs to the splicing factor SR family. NA PE1 19 +NX_Q8N2N9 Ankyrin repeat domain-containing protein 36B 1353 153582 9.01 0 NA NA NA NA Belongs to the ANKRD36 family. NA PE1 2 +NX_Q8N2Q7 Neuroligin-1 863 96368 5.94 1 Nucleus;Postsynaptic density;Synaptic cleft;Cell membrane NA Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and probably mediates its effects by recruiting and clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Required to maintain wakefulness quality and normal synchrony of cerebral cortex activity during wakefulness and sleep. NA Belongs to the type-B carboxylesterase/lipase family. Cell adhesion molecules (CAMs);Neurexins and neuroligins PE1 3 +NX_Q8N2R0 Protein odd-skipped-related 2 312 35513 9.66 0 Nucleoplasm;Nucleus;Cell membrane NA NA NA Belongs to the Odd C2H2-type zinc-finger protein family. NA PE1 8 +NX_Q8N2R8 Protein FAM43A 423 45776 6.1 0 Cytoplasmic vesicle NA NA NA Belongs to the FAM43 family. NA PE1 3 +NX_Q8N2S1 Latent-transforming growth factor beta-binding protein 4 1624 173435 5.27 0 Extracellular matrix Urban-Rifkin-Davis syndrome;Duchenne muscular dystrophy Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta. Contains hydroxylated asparagine residues. Belongs to the LTBP family. Molecules associated with elastic fibres PE1 19 +NX_Q8N2U0 Transmembrane protein 256 113 11742 9.1 2 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the TMEM256 family. NA PE1 17 +NX_Q8N2U9 Solute carrier family 66 member 2 271 30478 8.34 6 Membrane;Nucleoplasm NA NA NA NA NA PE1 18 +NX_Q8N2W9 E3 SUMO-protein ligase PIAS4 510 56504 5.84 0 Nucleoplasm;PML body NA Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway, the p53/TP53 pathway, the Wnt pathway and the steroid hormone signaling pathway. Involved in gene silencing. Mediates sumoylation of CEBPA, PARK7, HERC2, MYB, TCF4 and RNF168. In Wnt signaling, represses LEF1 and enhances TCF4 transcriptional activities through promoting their sumoylations. Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation. Sumoylated. Lys-35 is the main site of sumoylation. Sumoylation is required for TCF4 sumoylation and transcriptional activation. Represses LEF1 transcriptional activity. SUMO1 is the preferred conjugate. Belongs to the PIAS family. Protein modification; protein sumoylation.;Ubiquitin mediated proteolysis;Jak-STAT signaling pathway;Hepatitis C;Pathways in cancer;Small cell lung cancer;SUMOylation of DNA damage response and repair proteins;G2/M DNA damage checkpoint;Vitamin D (calciferol) metabolism;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);SUMOylation of DNA replication proteins;SUMOylation of transcription factors;SUMOylation of intracellular receptors;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins;SUMOylation of transcription cofactors;SUMOylation of immune response proteins PE1 19 +NX_Q8N2X6 Uncharacterized protein EXOC3-AS1 119 12661 11.04 0 Secreted NA NA NA NA NA PE1 5 +NX_Q8N2Y8 Iporin 1516 161225 6.17 0 Cytosol Mental retardation, autosomal recessive 61 NA NA NA NA PE1 9 +NX_Q8N2Z9 Centromere protein S 138 15893 5.83 0 Kinetochore;Centromere;Nucleus NA DNA-binding component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:20347428, PubMed:20347429). In complex with CENPX (MHF heterodimer), crucial cofactor for FANCM in both binding and ATP-dependent remodeling of DNA. Stabilizes FANCM (PubMed:20347428, PubMed:20347429). In complex with CENPX and FANCM (but not other FANC proteins), rapidly recruited to blocked forks and promotes gene conversion at blocked replication forks (PubMed:20347428). In complex with CENPT, CENPW and CENPX (CENP-T-W-S-X heterotetramer), involved in the formation of a functional kinetochore outer plate, which is essential for kinetochore-microtubule attachment and faithful mitotic progression (PubMed:19620631). As a component of MHF and CENP-T-W-S-X complexes, binds DNA and bends it to form a nucleosome-like structure (PubMed:20347428, PubMed:22304917). DNA-binding function is fulfilled in the presence of CENPX, with the following preference for DNA substates: Holliday junction > double-stranded > splay arm > single-stranded. Does not bind DNA on its own (PubMed:20347428, PubMed:20347429). NA Belongs to the TAF9 family. CENP-S/MHF1 subfamily. Fanconi anemia pathway;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Deposition of new CENPA-containing nucleosomes at the centromere;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Fanconi Anemia Pathway PE1 1 +NX_Q8N300 Small vasohibin-binding protein 66 7808 9.21 0 Cytoplasm;Secreted;Nucleoplasm;Cytosol;Nucleus NA Enhances the tyrosine carboxypeptidase activity of VASH1 and VASH2, thereby promoting the removal of the C-terminal tyrosine residue of alpha-tubulin (PubMed:29146869). Also required to enhance the solubility and secretion of VASH1 and VASH2 (PubMed:20736312, PubMed:27879017). NA Belongs to the SVBP family. NA PE1 1 +NX_Q8N302 Angiogenic factor with G patch and FHA domains 1 714 80977 5.29 0 Cytoplasm;Secreted Klippel-Trenaunay syndrome Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion. NA NA Signaling by BRAF and RAF fusions PE1 5 +NX_Q8N307 Mucin-20 709 71982 4.95 0 Cell membrane;Basolateral cell membrane;Secreted;Microvillus membrane;Nucleoplasm;Cytosol;Apical cell membrane NA May regulate MET signaling cascade. Seems to decrease hepatocyte growth factor (HGF)-induced transient MAPK activation. Blocks GRB2 recruitment to MET thus suppressing the GRB2-RAS pathway. Inhibits HGF-induced proliferation of MMP1 and MMP9 expression. NA NA O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1);MET activates RAS signaling PE1 3 +NX_Q8N309 Leucine-rich repeat-containing protein 43 656 73022 5.17 0 Golgi apparatus;Cytoplasmic vesicle NA NA NA NA NA PE1 12 +NX_Q8N319 Uncharacterized protein C6orf223 242 26113 12.2 0 Nucleolus NA NA NA NA NA PE2 6 +NX_Q8N323 NXPE family member 1 547 63178 8.78 0 Secreted NA NA NA Belongs to the NXPE family. NA PE1 11 +NX_Q8N326 Uncharacterized protein C10orf111 155 17766 10.01 1 Membrane NA NA NA NA NA PE2 10 +NX_Q8N328 PiggyBac transposable element-derived protein 3 593 67595 7.81 0 Nucleus NA Binds in vitro to PGBD3-related transposable elements, called MER85s; these non-autonomous 140 bp elements are characterized by the presence of PGBD3 terminal inverted repeats and the absence of internal transposase ORF. NA NA NA PE1 10 +NX_Q8N335 Glycerol-3-phosphate dehydrogenase 1-like protein 351 38419 6.61 0 Cytoplasm Brugada syndrome 2 Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L. NA Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family. Glycerophospholipid metabolism;Synthesis of PA PE1 3 +NX_Q8N336 ELMO domain-containing protein 1 334 39052 8.78 0 Nucleoplasm;Cytosol NA Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family. NA NA NA PE1 11 +NX_Q8N339 Metallothionein-1M 61 6110 8.05 0 NA NA Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. NA Belongs to the metallothionein superfamily. Type 1 family. Mineral absorption;Metallothioneins bind metals PE1 16 +NX_Q8N344 Mesoderm induction early response protein 2 545 59944 4.53 0 Nucleoplasm;Cytosol;Nucleus NA Transcriptional repressor. NA NA NA PE1 19 +NX_Q8N349 Olfactory receptor 2L13 312 35634 9.09 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8N350 Voltage-dependent calcium channel beta subunit-associated regulatory protein 705 73929 5.96 1 Growth cone;Nucleoplasm;Synaptic vesicle membrane;Cell membrane NA Negatively regulates voltage-gated calcium channels by preventing the interaction between their alpha and beta subunits. Thereby, negatively regulates calcium channels activity at the plasma membrane and indirectly inhibits calcium-regulated exocytosis. NA NA NA PE1 19 +NX_Q8N357 Solute carrier family 35 member F6 371 40214 6.44 9 Mitochondrion;Lysosome membrane;Nucleoplasm;Endosome;Cytoplasmic vesicle;Cytosol NA Involved in the maintenance of mitochondrial membrane potential in pancreatic ductal adenocarcinoma (PDAC) cells. Promotes pancreatic ductal adenocarcinoma (PDAC) cell growth. May play a role as a nucleotide-sugar transporter. NA Belongs to the SLC35F solute transporter family. NA PE1 2 +NX_Q8N365 Circadian-associated transcriptional repressor 385 41443 9.49 0 Nucleoplasm;Nucleus;PML body NA Transcriptional repressor which forms a negative regulatory component of the circadian clock and acts independently of the circadian transcriptional repressors: CRY1, CRY2 and BHLHE41. In a histone deacetylase-dependent manner represses the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Abrogates the interaction of ARNTL/BMAL1 with the transcriptional coactivator CREBBP and can repress the histone acetyl-transferase activity of the CLOCK-ARNTL/BMAL1 heterodimer, reducing histone acetylation of its target genes. Rhythmically binds the E-box elements (5'-CACGTG-3') on circadian gene promoters and its occupancy shows circadian oscillation antiphasic to ARNTL/BMAL1. Interacts with the glucocorticoid receptor (NR3C1) and contributes to the repressive function in the glucocorticoid response (By similarity). NA NA NA PE1 1 +NX_Q8N370 Large neutral amino acids transporter small subunit 4 569 62747 8.25 12 Membrane;Golgi apparatus;Cell membrane NA Sodium-, chloride-, and pH-independent high affinity transport of large neutral amino acids. Glycosylated. Belongs to the SLC43A transporter (TC 2.A.1.44) family. Amino acid transport across the plasma membrane PE1 17 +NX_Q8N371 Bifunctional peptidase and arginyl-hydroxylase JMJD5 416 47270 5.51 0 Nucleoplasm;Cytosol;Nucleus;Chromosome NA Bifunctional enzyme that acts both as an endopeptidase and 2-oxoglutarate-dependent monoxygenase (PubMed:28847961, PubMed:29459673, PubMed:28982940, PubMed:29563586). Endopeptidase that cleaves histones N-terminal tails at the carboxyl side of methylated arginine or lysine residues, to generate 'tailless nucleosomes', which may trigger transcription elongation (PubMed:28847961, PubMed:29459673, PubMed:28982940). Preferentially recognizes and cleaves monomethylated and dimethylated arginine residues of histones H2, H3 and H4. After initial cleavage, continues to digest histones tails via its aminopeptidase activity (PubMed:28847961, PubMed:29459673). Upon DNA damage, cleaves the N-terminal tail of histone H3 at monomethylated lysine residues, preferably at monomethylated 'Lys-9' (H3K9me1). The histone variant H3F3A is the major target for cleavage (PubMed:28982940). Additionnally, acts as Fe(2+) and 2-oxoglutarate-dependent monoxygenase, catalyzing (R)-stereospecific hydroxylation at C-3 of 'Arg-137' of RPS6 and 'Arg-141' of RCCD1, but the biological significance of this activity remains to be established (PubMed:29563586). Regulates mitosis through different mechanisms: Plays a role in transcriptional repression of satellite repeats, possibly by regulating H3K36 methylation levels in centromeric regions together with RCCD1. Possibly together with RCCD1, is involved in proper mitotic spindle organization and chromosome segregation (PubMed:24981860). Negatively regulates cell cycle repressor CDKN1A/p21, which controls G1/S phase transition (PubMed:24740926). Required for G2/M phase cell cycle progression. Regulates expression of CCNA1/cyclin-A1, leading to cancer cell proliferation (PubMed:20457893). Also, plays a role in regulating alpha-tubulin acetylation and cytoskeletal microtubule stability involved in epithelial to mesenchymal transition (PubMed:28455245). Regulates the circadian gene expression in the liver (By similarity). Represses the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer in a catalytically-independent manner (PubMed:30500822). Negatively regulates the protein stability and function of CRY1; required for AMPK-FBXL3-induced CRY1 degradation (PubMed:30500822). NA NA NA PE1 16 +NX_Q8N377 Putative uncharacterized protein LOC387726 158 15598 7.64 0 NA NA NA NA NA NA PE5 10 +NX_Q8N386 Leucine-rich repeat-containing protein 25 305 33179 4.88 1 Membrane;Cytoplasm NA Plays a role in the inhibition of RLR-mediated type I interferon signaling pathway by targeting DDX58/RIG-I for autophagic degradation. Interacts specifically with ISG15-associated DDX58 to promote interaction between DDX58 and the autophagic cargo receptor p62/SQSTM1 to mediate DDX58 degradation via selective autophagy (PubMed:29288164). Plays also a role in the inhibition of NF-kappa-B signaling pathway and inflammatory response by promoting the degradation of p65/RELA. NA NA NA PE1 19 +NX_Q8N387 Mucin-15 334 36294 4.93 1 Secreted;Cell membrane NA May play a role in the cell adhesion to the extracellular matrix. Highly glycosylated (N- and O-linked carbohydrates). NA O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1) PE1 11 +NX_Q8N392 Rho GTPase-activating protein 18 663 74977 6.1 0 Cytoplasm;Cytosol;Nucleus speckle;Cell membrane NA Rho GTPase activating protein that suppresses F-actin polymerization by inhibiting Rho. Rho GTPase activating proteins act by converting Rho-type GTPases to an inactive GDP-bound state (PubMed:21865595). Plays a key role in tissue tension and 3D tissue shape by regulating cortical actomyosin network formation. Acts downstream of YAP1 and inhibits actin polymerization, which in turn reduces nuclear localization of YAP1 (PubMed:25778702). Regulates cell shape, spreading, and migration (PubMed:21865595). NA NA Rho GTPase cycle PE1 6 +NX_Q8N393 Zinc finger protein 786 782 89815 9.39 0 Nucleoplasm;Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_Q8N394 Protein O-mannosyl-transferase TMTC2 836 94130 8.94 10 Membrane;Endoplasmic reticulum;Cell membrane;Cytoskeleton NA Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3. NA Belongs to the TMTC family. Protein modification; protein glycosylation. PE1 12 +NX_Q8N398 von Willebrand factor A domain-containing protein 5B2 1242 131668 6.02 0 Golgi apparatus;Nucleoplasm NA NA NA NA NA PE1 3 +NX_Q8N3A8 Protein mono-ADP-ribosyltransferase PARP8 854 95871 8.58 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Midbody ring NA Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins. Auto-mono-ADP-ribosylated. NA Nicotinamide salvaging PE1 5 +NX_Q8N3C0 Activating signal cointegrator 1 complex subunit 3 2202 251460 6.64 0 Golgi apparatus;Cytoplasm;Nucleus speckle;Cytosol;Nucleus NA 3'-5' DNA helicase involved in repair of alkylated DNA. Promotes DNA unwinding to generate single-stranded substrate needed for ALKBH3, enabling ALKBH3 to process alkylated N3-methylcytosine (3mC) within double-stranded regions (PubMed:22055184). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). NA Belongs to the helicase family. ALKBH3 mediated reversal of alkylation damage PE1 6 +NX_Q8N3C7 CAP-Gly domain-containing linker protein 4 705 76317 8.93 0 Cytoplasmic vesicle NA NA NA NA NA PE1 2 +NX_Q8N3D4 EH domain-binding protein 1-like protein 1 1523 161854 4.8 0 Endosome NA May act as Rab effector protein and play a role in vesicle trafficking. Prenylated (Probable). Farnelysation (predominant) and geranylgeranylation has been observed in vitro. NA NA PE1 11 +NX_Q8N3E9 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 789 89258 6.52 0 Membrane;Cytoplasm;Cleavage furrow;Cell membrane NA Hydrolyzes the phosphatidylinositol 4,5-bisphosphate (PIP2) to generate 2 second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). DAG mediates the activation of protein kinase C (PKC), while IP3 releases Ca(2+) from intracellular stores. Essential for trophoblast and placental development. May participate in cytokinesis by hydrolyzing PIP2 at the cleavage furrow. NA NA Inositol phosphate metabolism;Metabolic pathways;Calcium signaling pathway;Phosphatidylinositol signaling system;Synthesis of IP3 and IP4 in the cytosol PE1 17 +NX_Q8N3F0 Maturin 131 14925 4.03 0 Cytosol NA May be involved in early neuronal development. NA Belongs to the MTURN family. NA PE1 7 +NX_Q8N3F8 MICAL-like protein 1 863 93441 6.88 0 Cell junction;Centriolar satellite;Recycling endosome membrane;Cytosol;Late endosome membrane NA Probable lipid-binding protein with higher affinity for phosphatidic acid, a lipid enriched in recycling endosome membranes. On endosome membranes, may act as a downstream effector of Rab proteins recruiting cytosolic proteins to regulate membrane tubulation. May be involved in a late step of receptor-mediated endocytosis regulating for instance endocytosed-EGF receptor trafficking. Alternatively, may regulate slow endocytic recycling of endocytosed proteins back to the plasma membrane. May indirectly play a role in neurite outgrowth. NA NA NA PE1 22 +NX_Q8N3F9 Integral membrane protein GPR137C 429 47075 7.16 7 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the GPR137 family. NA PE2 14 +NX_Q8N3G9 Transmembrane protein 130 435 48329 6.07 1 Endoplasmic reticulum;Golgi apparatus;Golgi apparatus membrane NA NA NA NA NA PE1 7 +NX_Q8N3H0 Chemokine-like protein TAFA-2 131 14620 9.46 0 Cytoplasm;Nucleus NA Has a role as neurotrophic factor involved in neuronal survival and neurobiological functions. NA Belongs to the TAFA family. NA PE1 12 +NX_Q8N3I7 Bardet-Biedl syndrome 5 protein 341 38755 5.39 0 Cytoplasm;Centriolar satellite;Cilium basal body;Cilium membrane;Nucleus Bardet-Biedl syndrome 5 The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for BBSome complex ciliary localization but not for the proper complex assembly. NA Belongs to the BBS5 family. BBSome-mediated cargo-targeting to cilium PE1 2 +NX_Q8N3J2 N(6)-adenine-specific DNA methyltransferase METTL4 472 54041 6.39 0 Mitochondrion NA N(6)-adenine-specific DNA methyltransferase that mediates methylation of DNA on the 6th position of adenine (N(6)-methyladenosine) and is required to regulate Polycomb silencing. N(6)-methyladenosine deposition by METTL4 triggers ubiquitination and degradation of sensor proteins ASXL1 and MPND, leading to inactivation of the PR-DUB complex and subsequent preservation of Polycomb silencing. NA Belongs to the MT-A70-like family. NA PE1 18 +NX_Q8N3J3 Uncharacterized protein C17orf53 647 69771 5.85 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 17 +NX_Q8N3J5 Protein phosphatase 1K, mitochondrial 372 40997 6.27 0 Mitochondrion matrix;Mitochondrion Maple syrup urine disease, mild variant Regulates the mitochondrial permeability transition pore and is essential for cellular survival and development. NA Belongs to the PP2C family. Branched-chain amino acid catabolism PE1 4 +NX_Q8N3J6 Cell adhesion molecule 2 435 47554 5.17 1 Axon;Synapse;Cell membrane NA Adhesion molecule that engages in homo- and heterophilic interactions with the other nectin-like family members, leading to cell aggregation. Important for synapse organization, providing regulated trans-synaptic adhesion. Preferentially binds to oligodendrocytes. NA Belongs to the nectin family. Adherens junctions interactions PE1 3 +NX_Q8N3J9 Zinc finger protein 664 261 30284 9.03 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 12 +NX_Q8N3K9 Cardiomyopathy-associated protein 5 4069 449211 4.73 0 Cytoplasm;M line;Sarcoplasmic reticulum;Perinuclear region;Nucleus NA May serve as an anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) via binding to PRKAR2A (By similarity). May function as a repressor of calcineurin-mediated transcriptional activity. May attenuate calcineurin ability to induce slow-fiber gene program in muscle and may negatively modulate skeletal muscle regeneration (By similarity). Plays a role in the assembly of ryanodine receptor (RYR2) clusters in striated muscle (By similarity). Phosphorylated by PKA. NA NA PE1 5 +NX_Q8N3L3 Beta-taxilin 684 76519 4.9 0 NA NA Promotes motor nerve regeneration (By similarity). May be involved in intracellular vesicle traffic. NA Belongs to the taxilin family. NA PE1 6 +NX_Q8N3P4 Vacuolar protein sorting-associated protein 8 homolog 1428 161754 5.41 0 Early endosome;Cell membrane;Cytosol NA Plays a role in vesicle-mediated protein trafficking of the endocytic membrane transport pathway. Believed to act as a component of the putative CORVET endosomal tethering complexes which is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:25266290). Functions predominantly in APPL1-containing endosomes (PubMed:25266290). NA Belongs to the VPS8 family. NA PE1 3 +NX_Q8N3R3 T-cell activation inhibitor, mitochondrial 496 57925 8.9 0 Mitochondrion NA May regulate T-cell apoptosis. NA NA NA PE1 3 +NX_Q8N3R9 MAGUK p55 subfamily member 5 675 77294 5.77 0 Cytoplasm;Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment;Cell membrane;Endomembrane system;Adherens junction;Perikaryon;Nucleoplasm;Tight junction;Cytosol;Apical cell membrane;Axon NA (Microbial infection) Acts as an interaction partner for human SARS coronavirus envelope protein E which results in delayed formation of tight junctions and disregulation of cell polarity.;Plays a role in tight junction biogenesis and in the establishment of cell polarity in epithelial cells (PubMed:16678097, PubMed:25385611). Also involved in adherens junction biogenesis by ensuring correct localization of the exocyst complex protein EXOC4/SEC8 which allows trafficking of adherens junction structural component CDH1 to the cell surface (By similarity). Plays a role through its interaction with CDH5 in vascular lumen formation and endothelial membrane polarity (PubMed:27466317). Required during embryonic and postnatal retinal development (By similarity). Required for the maintenance of cerebellar progenitor cells in an undifferentiated proliferative state, preventing premature differentiation, and is required for cerebellar histogenesis, fissure formation and cerebellar layer organization (By similarity). Plays a role in the radial and longitudinal extension of the myelin sheath in Schwann cells (By similarity). May modulate SC6A1/GAT1-mediated GABA uptake by stabilizing the transporter (By similarity). Plays a role in the T-cell receptor-mediated activation of NF-kappa-B (PubMed:21479189). Required for localization of EZR to the apical membrane of parietal cells and may play a role in the dynamic remodeling of the apical cytoskeleton (By similarity). Required for the normal polarized localization of the vesicular marker STX4 (By similarity). Required for the correct trafficking of the myelin proteins PMP22 and MAG (By similarity). NA Belongs to the MAGUK family. Tight junction;Tight junction interactions PE1 14 +NX_Q8N3S3 Putative homeodomain transcription factor 2 785 88757 9.09 0 Endoplasmic reticulum;Nucleoplasm;Nucleus;Cytosol NA May play a role in transcription regulation. NA NA NA PE1 7 +NX_Q8N3T1 Polypeptide N-acetylgalactosaminyltransferase 15 639 73063 6.44 1 Golgi apparatus;Cytosol;Golgi apparatus membrane NA Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Although it displays a much weaker activity toward all substrates tested compared to GALNT2, it is able to transfer up to seven GalNAc residues to the Muc5AC peptide, suggesting that it can fill vicinal Thr/Ser residues in cooperation with other GALNT proteins. Prefers Muc1a as substrate. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 3 +NX_Q8N3T6 Transmembrane protein 132C 1108 121787 5.95 1 Membrane;Cytosol;Centrosome NA NA NA Belongs to the TMEM132 family. NA PE1 12 +NX_Q8N3U1 Putative uncharacterized protein LOC400692 123 12695 5.54 0 NA NA NA NA NA NA PE2 19 +NX_Q8N3U4 Cohesin subunit SA-2 1231 141326 5.27 0 Centromere;Nucleus;Chromosome Neurodevelopmental disorder, X-linked, with craniofacial abnormalities Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Phosphorylated by PLK1. The large dissociation of cohesin from chromosome arms during prophase is partly due to its phosphorylation (By similarity). Belongs to the SCC3 family. Cell cycle;Separation of Sister Chromatids;SUMOylation of DNA damage response and repair proteins;Establishment of Sister Chromatid Cohesion;Cohesin Loading onto Chromatin;Resolution of Sister Chromatid Cohesion;Meiotic synapsis;Estrogen-dependent gene expression PE1 X +NX_Q8N3V7 Synaptopodin 929 99463 8.92 0 Dendritic spine;Perikaryon;Nucleoplasm;Tight junction;Postsynaptic density;Synapse;Cytosol;Cytoskeleton NA Actin-associated protein that may play a role in modulating actin-based shape and motility of dendritic spines and renal podocyte foot processes. Seems to be essential for the formation of spine apparatuses in spines of telencephalic neurons, which is involved in synaptic plasticity (By similarity). O-glycosylated. Belongs to the synaptopodin family. NA PE1 5 +NX_Q8N3X1 Formin-binding protein 4 1017 110266 4.68 0 Nucleus speckle NA NA NA NA NA PE1 11 +NX_Q8N3X6 Ligand-dependent nuclear receptor corepressor-like protein 602 66964 8.2 0 Nucleoplasm;Nucleus;Nucleus membrane NA May act as transcription activator that binds DNA elements with the sequence 5'-CCCTATCGATCGATCTCTACCT-3'. May play a role in spermatogenesis (By similarity). NA NA NA PE1 4 +NX_Q8N3Y1 F-box/WD repeat-containing protein 8 598 67394 5.42 0 Golgi apparatus;Cytosol;Perinuclear region NA Substrate-recognition component of a Cul7-RING ubiquitin-protein ligase complex, which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. The Cul7-RING(FBXW8) complex mediates ubiquitination and consequent degradation of GORASP1, acting as a component of the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain (PubMed:21572988). Mediates ubiquitination and degradation of IRS1 in a mTOR-dependent manner: the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previously phosphorylated by S6 kinase (RPS6KB1 or RPS6KB2) (PubMed:18498745). The Cul7-RING(FBXW8) complex also mediates ubiquitination of MAP4K1/HPK1: recognizes and binds autophosphorylated MAP4K1/HPK1, leading to its degradation, thereby affecting cell proliferation and differentiation (PubMed:24362026). Associated component of the 3M complex, suggesting that it mediates some of 3M complex functions (PubMed:24793695). NA NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 12 +NX_Q8N3Y3 LARGE xylosyl- and glucuronyltransferase 2 721 81787 7.69 1 Golgi apparatus membrane NA Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide. Has a higher activity toward alpha-dystroglycan than LARGE. NA In the N-terminal section; belongs to the glycosyltransferase 8 family.;In the C-terminal section; belongs to the glycosyltransferase 49 family. Protein modification; protein glycosylation.;O-linked glycosylation PE1 11 +NX_Q8N3Y7 Epidermal retinol dehydrogenase 2 309 34095 8.72 2 Endoplasmic reticulum membrane NA Oxidoreductase with strong preference for NAD. Active in both the oxidative and reductive directions. Oxidizes all-trans-retinol in all-trans-retinaldehyde. No activity was detected with 11-cis-retinol or 11-cis-retinaldehyde as substrates with either NAD(+)/NADH or NADP(+)/NADPH. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Cofactor metabolism; retinol metabolism.;RA biosynthesis pathway PE1 8 +NX_Q8N3Z0 Inactive serine protease 35 413 47098 9.72 0 Secreted NA NA NA Belongs to the peptidase S1 family. NA PE1 6 +NX_Q8N3Z3 GTP-binding protein 8 284 32147 9.47 0 Mitochondrion NA NA NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. EngB GTPase family. NA PE1 3 +NX_Q8N3Z6 Zinc finger CCHC domain-containing protein 7 543 63052 7.03 0 Cytosol;Nucleolus NA NA NA NA NA PE1 9 +NX_Q8N402 Putative uncharacterized protein LOC388882 240 26933 4.58 0 NA NA NA NA NA NA PE2 22 +NX_Q8N412 Sperm-tail PG-rich repeat-containing protein 2 459 50660 9.6 0 NA NA NA NA NA NA PE2 4 +NX_Q8N413 Solute carrier family 25 member 45 288 31906 9.32 6 Nucleoplasm;Cytosol;Mitochondrion inner membrane NA NA NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 11 +NX_Q8N414 PiggyBac transposable element-derived protein 5 524 58464 9.03 0 Nucleoplasm;Nucleus NA Transposase that mediates sequence-specific genomic rearrangements (PubMed:26406119, PubMed:28504702). Can induce genomic rearrangements that inactivate the HPRT1 gene (PubMed:27491780). NA NA NA PE1 1 +NX_Q8N423 Leukocyte immunoglobulin-like receptor subfamily B member 2 598 65039 6.79 1 Cell membrane NA Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C, HLA-G and HLA-F alleles (PubMed:11169396, PubMed:12853576, PubMed:16455647, PubMed:20448110, PubMed:27859042). Involved in the down-regulation of the immune response and the development of tolerance. Recognizes HLA-G in complex with B2M/beta-2 microglobulin and a nonamer self-peptide (peptide-bound HLA-G-B2M) triggering differentiation of type 1 regulatory T cells and myeloid-derived suppressor cells, both of which actively maintain maternal-fetal tolerance (PubMed:20448110, PubMed:27859042, PubMed:16455647). Competes with CD8A for binding to class I MHC antigens. Inhibits FCGR1A-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions (PubMed:11875462, PubMed:12853576, PubMed:9548455, PubMed:9842885). Phosphorylated on tyrosine residues. Dephosphorylated by PTPN6. NA Osteoclast differentiation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Neutrophil degranulation PE1 19 +NX_Q8N427 Thioredoxin domain-containing protein 3 588 67270 4.9 0 Cytoplasm Ciliary dyskinesia, primary, 6 Probably required during the final stages of sperm tail maturation in the testis and/or epididymis, where extensive disulfide bonding of fibrous sheath (FS) proteins occurs. May be involved in the reduction of disulfide bonds within the sperm FS components. In vitro, it has neither NDP kinase nor reducing activity on disulfide bonds. NA In the C-terminal section; belongs to the NDK family. NA PE1 7 +NX_Q8N428 Polypeptide N-acetylgalactosaminyltransferase 16 558 63074 9.28 1 Nucleoplasm;Golgi apparatus membrane NA Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 14 +NX_Q8N431 Ras-GEF domain-containing family member 1C 466 52870 7.58 0 Mitochondrion NA Guanine nucleotide exchange factor (GEF). NA NA NA PE2 5 +NX_Q8N434 Putative transporter SVOPL 492 53991 9.07 10 Membrane NA NA NA Belongs to the major facilitator superfamily. NA PE2 7 +NX_Q8N436 Inactive carboxypeptidase-like protein X2 756 85870 6.4 0 Secreted NA May be involved in cell-cell interactions. NA Belongs to the peptidase M14 family. NA PE1 10 +NX_Q8N441 Fibroblast growth factor receptor-like 1 504 54537 9.79 1 Membrane;Cytoplasmic vesicle NA Has a negative effect on cell proliferation. NA NA FGFRL1 modulation of FGFR1 signaling PE1 4 +NX_Q8N442 Translation factor GUF1, mitochondrial 669 74328 8.75 0 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion Epileptic encephalopathy, early infantile, 40 Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocated ribosomes. Binds to mitochondrial ribosomes in a GTP-dependent manner. NA Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. LepA subfamily. NA PE1 4 +NX_Q8N443 RIB43A-like with coiled-coils protein 1 379 44015 8.92 0 Nucleus NA NA NA Belongs to the RIB43A family. NA PE1 X +NX_Q8N446 Zinc finger protein 843 348 37065 9.85 0 NA NA NA NA NA NA PE1 16 +NX_Q8N448 Ligand of Numb protein X 2 690 76004 6.17 0 Cytoplasmic vesicle;Cytosol;Cell membrane NA NA NA NA NA PE1 13 +NX_Q8N456 Leucine-rich repeat-containing protein 18 261 29737 9.83 0 Cytoplasm NA May be involved in the regulation of spermatogenesis and sperm maturation. NA NA NA PE1 10 +NX_Q8N461 F-box/LRR-repeat protein 16 479 51658 6.09 0 NA NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 16 +NX_Q8N465 D-2-hydroxyglutarate dehydrogenase, mitochondrial 521 56416 8.21 0 Mitochondrion D-2-hydroxyglutaric aciduria 1 Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate. NA Belongs to the FAD-binding oxidoreductase/transferase type 4 family. Interconversion of 2-oxoglutarate and 2-hydroxyglutarate PE1 2 +NX_Q8N468 Major facilitator superfamily domain-containing protein 4A 514 56265 8.67 12 Membrane;Endosome NA NA NA Belongs to the major facilitator superfamily. NA PE1 1 +NX_Q8N474 Secreted frizzled-related protein 1 314 35386 9.1 0 Cytosol;Secreted;Nucleolus NA Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP1 decreases intracellular beta-catenin levels (By similarity). Has antiproliferative effects on vascular cells, in vitro and in vivo, and can induce, in vivo, an angiogenic response. In vascular cell cycle, delays the G1 phase and entry into the S phase (By similarity). In kidney development, inhibits tubule formation and bud growth in metanephroi (By similarity). Inhibits WNT1/WNT4-mediated TCF-dependent transcription. NA Belongs to the secreted frizzled-related protein (sFRP) family. Wnt signaling pathway;TCF dependent signaling in response to WNT;Negative regulation of TCF-dependent signaling by WNT ligand antagonists PE1 8 +NX_Q8N475 Follistatin-related protein 5 847 95751 5.61 0 Secreted NA NA NA NA NA PE1 4 +NX_Q8N485 Protein limb expression 1 homolog 282 31891 5.37 0 Cytoplasmic vesicle;Cytosol;Cytoskeleton NA NA NA Belongs to the LIX1 family. NA PE2 5 +NX_Q8N488 RING1 and YY1-binding protein 228 24822 9.66 0 Nucleoplasm;Cytoplasm;Nucleus NA Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1-like complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:25519132). Component of a PRC1-like complex that mediates monoubiquitination of histone H2A 'Lys-119' on the X chromosome and is required for normal silencing of one copy of the X chromosome in XX females. May stimulate ubiquitination of histone H2A 'Lys-119' by recruiting the complex to target sites (By similarity). Inhibits ubiquitination and subsequent degradation of TP53, and thereby plays a role in regulating transcription of TP53 target genes (PubMed:19098711). May also regulate the ubiquitin-mediated proteasomal degradation of other proteins like FANK1 to regulate apoptosis (PubMed:14765135, PubMed:27060496). May be implicated in the regulation of the transcription as a repressor of the transcriptional activity of E4TF1 (PubMed:11953439). May bind to DNA (By similarity). May play a role in the repression of tumor growth and metastasis in breast cancer by down-regulating SRRM3 (PubMed:27748911). Monoubiquitinated. NA Transcriptional Regulation by E2F6;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 3 +NX_Q8N490 Probable hydrolase PNKD 385 42876 9.22 0 Membrane;Cytoplasm;Mitochondrion;Nucleus Dystonia 8 Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway. NA Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family. NA PE1 2 +NX_Q8N4A0 Polypeptide N-acetylgalactosaminyltransferase 4 578 66666 7.55 1 Golgi apparatus;Golgi apparatus membrane NA Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a highest activity toward Muc7, EA2 and Muc2, with a lowest activity than GALNT2. Glycosylates 'Thr-57' of SELPLG. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 12 +NX_Q8N4B1 Sesquipedalian-1 249 27215 9.18 0 trans-Golgi network;Recycling endosome;Early endosome;Clathrin-coated vesicle NA Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane. NA Belongs to the sesquipedalian family. NA PE1 12 +NX_Q8N4B4 F-box only protein 39 442 52646 9.1 0 NA NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA NA NA PE2 17 +NX_Q8N4B5 Proline-rich protein 18 295 30926 11.09 0 NA NA NA NA NA NA PE1 6 +NX_Q8N4C0 Putative uncharacterized protein C9orf62 152 16682 10.45 0 NA NA NA NA NA NA PE2 9 +NX_Q8N4C6 Ninein 2090 243249 4.99 0 Cytoplasm;Centriole;Nucleolus;Nucleoplasm;Centrosome Seckel syndrome 7 Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial cells (PubMed:15190203, PubMed:23386061). May also act as a centrosome maturation factor (PubMed:11956314). May play a role in microtubule nucleation, by recruiting the gamma-tubulin ring complex to the centrosome (PubMed:15190203). Overexpression does not perturb nucleation or elongation of microtubules but suppresses release of microtubules (PubMed:15190203). Required for centriole organization and microtubule anchoring at the mother centriole (PubMed:23386061). Phosphorylated by AURKA/Aurora kinase A and PKA kinases but not CK2 or AURKB/ Aurora kinase B.;NIN is phosphorylated by AURKA (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA NA PE1 14 +NX_Q8N4C7 Syntaxin-19 294 34324 7.05 0 Cytoplasm;Cytosol;Cytoskeleton;Cell membrane NA Plays a role in endosomal trafficking of the epidermal growth factor receptor (EGFR). NA Belongs to the syntaxin family. SNARE interactions in vesicular transport PE1 3 +NX_Q8N4C8 Misshapen-like kinase 1 1332 149822 7.85 0 Golgi apparatus;Cytoplasm;Postsynaptic density;Axon;Dendrite NA Serine/threonine kinase which acts as a negative regulator of Ras-related Rap2-mediated signal transduction to control neuronal structure and AMPA receptor trafficking. Required for normal synaptic density, dendrite complexity, as well as surface AMPA receptor expression in hippocampal neurons. Can activate the JNK and MAPK14/p38 pathways and mediates stimulation of the stress-activated protein kinase MAPK14/p38 MAPK downstream of the Raf/ERK pathway. Phosphorylates: TANC1 upon stimulation by RAP2A, MBP and SMAD1. Has an essential function in negative selection of thymocytes, perhaps by coupling NCK1 to activation of JNK1.;Can activate the JNK pathway. Involved in the regulation of actin cytoskeleton reorganization, cell-matrix adhesion, cell-cell adhesion and cell migration. Autophosphorylated. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. Oxidative Stress Induced Senescence PE1 17 +NX_Q8N4C9 Uncharacterized protein C17orf78 275 30555 9.62 1 Membrane NA NA NA NA NA PE2 17 +NX_Q8N4E4 Phosducin-like protein 2 241 28071 4.79 0 NA NA May play a role in germ cell maturation. NA Belongs to the phosducin family. NA PE1 4 +NX_Q8N4E7 Ferritin, mitochondrial 242 27538 6.79 0 Mitochondrion NA Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. NA Belongs to the ferritin family. Porphyrin and chlorophyll metabolism;Mineral absorption;Iron uptake and transport PE1 5 +NX_Q8N4F0 BPI fold-containing family B member 2 458 49172 8.82 0 Cytoplasmic vesicle;Secreted NA NA NA Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Antimicrobial peptides;Post-translational protein phosphorylation PE1 20 +NX_Q8N4F4 Solute carrier family 22 member 24 322 35933 5.39 6 Membrane NA NA NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. NA PE2 11 +NX_Q8N4F7 RING finger protein 175 328 38266 9.07 5 Membrane NA NA NA NA NA PE1 4 +NX_Q8N4G2 ADP-ribosylation factor-like protein 14 192 21588 8.93 0 Cytoplasmic vesicle NA GTPase that recruits MYO1E to MHC class II-containing vesicles via the effector protein ARL14EP and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells. NA Belongs to the small GTPase superfamily. Arf family. NA PE1 3 +NX_Q8N4H0 Spermatogenesis associated 6-like protein 392 45058 9.22 0 NA NA NA NA Belongs to the SPATA6 family. NA PE1 9 +NX_Q8N4H5 Mitochondrial import receptor subunit TOM5 homolog 51 6035 9.69 1 Mitochondrion outer membrane;Mitochondrion NA NA NA Belongs to the Tom5 family. Mitochondrial protein import;Pink/Parkin Mediated Mitophagy PE1 9 +NX_Q8N4J0 Carnosine N-methyltransferase 409 47186 5.93 0 Cytosol;Nucleus NA N-methyltransferase that mediates the formation of anserine (beta-alanyl-N(Pi)-methyl-L-histidine) from carnosine. Anserine, a methylated derivative of carnosine (beta-alanyl-L-histidine), is an abundant constituent of vertebrate skeletal muscles. Also methylates other L-histidine-containing di- and tripeptides such as Gly-Gly-His, Gly-His and homocarnosine (GABA-His). NA Belongs to the carnosine N-methyltransferase family. Histidine catabolism PE1 9 +NX_Q8N4K4 Reprimo-like protein 120 12312 5.51 1 Membrane NA NA NA Belongs to the reprimo family. NA PE2 17 +NX_Q8N4L1 Transmembrane protein 151A 468 51278 8.31 2 Membrane;Cytosol;Nucleolus NA NA NA Belongs to the TMEM151 family. NA PE1 11 +NX_Q8N4L2 Type 2 phosphatidylinositol 4,5-bisphosphate 4-phosphatase 257 28081 9.07 2 Phagosome membrane;Lysosome membrane;Late endosome membrane;Cell membrane NA Catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate (PtdIns-4,5-P2) to phosphatidylinositol-4-phosphate (PtdIns-4-P) (PubMed:16365287). Does not hydrolyze phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-bisphosphate, inositol 3,5-bisphosphate, inositol 3,4-bisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate (PubMed:16365287). Negatively regulates the phagocytosis of large particles by reducing phagosomal phosphatidylinositol 4,5-bisphosphate accumulation during cup formation (By similarity). NA NA NA PE1 8 +NX_Q8N4L4 Spermatid maturation protein 1 309 34773 8.07 1 Membrane;Cytoplasm NA Required for proper cytoplasm removal during spermatogenesis. NA NA NA PE1 17 +NX_Q8N4L8 Coiled-coil domain-containing protein 24 307 34322 6.57 0 Cytosol;Nucleolus;Cell membrane NA NA NA NA NA PE1 1 +NX_Q8N4M1 Choline transporter-like protein 3 653 73783 7.92 8 Membrane NA NA NA Belongs to the CTL (choline transporter-like) family. Synthesis of PC;Transport of bile salts and organic acids, metal ions and amine compounds PE1 1 +NX_Q8N4M7 Putative uncharacterized protein C10orf126 172 19474 5.3 0 NA NA NA NA NA NA PE2 10 +NX_Q8N4N3 Kelch-like protein 36 616 69896 5.85 0 Cytosol NA Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA NA Protein modification; protein ubiquitination. PE1 16 +NX_Q8N4N8 Kinesin-like protein KIF2B 673 76254 8.89 0 Nucleolus;Centrosome;Spindle;Kinetochore;Cytoskeleton NA Plus end-directed microtubule-dependent motor required for spindle assembly and chromosome movement. Has microtubule depolymerization activity (PubMed:17538014). Plays a role in chromosome congression (PubMed:23891108). Phosphorylation at Thr-125 by PLK1 is required for activity in the correction of kinetochore-microtubules attachment errors, while phosphorylation at Ser-204 also by PLK1 is required for the kinetochore localization and activity in prometaphase. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. MCAK/KIF2 subfamily. Separation of Sister Chromatids;MHC class II antigen presentation;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;COPI-dependent Golgi-to-ER retrograde traffic PE1 17 +NX_Q8N4P2 Tetratricopeptide repeat protein 30B 665 76099 5.12 0 Cilium NA Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip. NA Belongs to the TTC30/dfy-1/fleer family. Intraflagellar transport PE1 2 +NX_Q8N4P3 Guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1 179 20329 6.25 0 Nucleoplasm;Cytosol NA PpGpp hydrolyzing enzyme involved in starvation response. NA Belongs to the MESH1 family. NA PE1 15 +NX_Q8N4P6 Leucine-rich repeat-containing protein 71 559 61825 9.3 0 NA NA NA NA NA NA PE1 1 +NX_Q8N4Q0 Prostaglandin reductase 3 377 40140 8.38 0 Golgi apparatus;Nucleoplasm;Peroxisome;Cytoplasmic vesicle NA Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-keto-PGE1, 15-keto-PGE2, 15-keto-PGE1-alpha and 15-keto-PGE2-alpha with highest efficiency towards 15-keto-PGE2-alpha. Overexpression represses transcriptional activity of PPARG and inhibits adipocyte differentiation. NA Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily. NA PE1 18 +NX_Q8N4Q1 Mitochondrial intermembrane space import and assembly protein 40 142 15996 4.23 0 Mitochondrion intermembrane space;Mitochondrion NA Functions as chaperone and catalyzes the formation of disulfide bonds in substrate proteins, such as COX17, COX19, MICU1 and COA7 (PubMed:16185709, PubMed:26387864, PubMed:19182799, PubMed:21059946, PubMed:23186364, PubMed:23676665, PubMed:30885959). Required for the import and folding of small cysteine-containing proteins (small Tim) in the mitochondrial intermembrane space (IMS). Required for the import of COA7 in the IMS (PubMed:30885959). Precursor proteins to be imported into the IMS are translocated in their reduced form into the mitochondria. The oxidized form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with the reduced precursor protein, resulting in oxidation of the precursor protein that now contains an intramolecular disulfide bond and is able to undergo folding in the IMS (PubMed:16185709, PubMed:19182799, PubMed:21059946, PubMed:23676665). Reduced CHCHD4/MIA40 is then reoxidized by GFER/ERV1 via a disulfide relay system (PubMed:23186364). Mediates formation of disulfide bond in MICU1 in the IMS, promoting formation of the MICU1-MICU2 heterodimer that regulates mitochondrial calcium uptake (PubMed:26387864). Forms intrachain disulfide bridges, but exists in different redox states. NA Mitochondrial protein import PE1 3 +NX_Q8N4S0 Coiled-coil domain-containing protein 82 544 64002 4.91 0 Nucleoplasm;Cytosol;Nucleus NA NA NA NA NA PE1 11 +NX_Q8N4S7 Progestin and adipoQ receptor family member 4 273 29126 9.26 6 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the ADIPOR family. NA PE1 16 +NX_Q8N4S9 MARVEL domain-containing protein 2 558 64168 7.21 6 Tight junction;Cell junction;Cell membrane Deafness, autosomal recessive, 49 Plays a role in the formation of tricellular tight junctions and of epithelial barriers (By similarity). Required for normal hearing via its role in the separation of the endolymphatic and perilymphatic spaces of the organ of Corti in the inner ear, and for normal survival of hair cells in the organ of Corti (PubMed:17186462). Phosphorylated.;Ubiquitinated by ITCH; but this ubiquitination does not lead to proteasomal degradation. NA NA PE1 5 +NX_Q8N4T0 Carboxypeptidase A6 437 51008 9.58 0 Extracellular matrix Epilepsy, familial temporal lobe, 5;Febrile seizures, familial, 11 May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II (PubMed:18178555). Releases a C-terminal amino acid, with preference for large hydrophobic C-terminal amino acids and shows only very weak activity toward small amino acids and histidine (PubMed:20855895). NA Belongs to the peptidase M14 family. NA PE1 8 +NX_Q8N4T4 Rho guanine nucleotide exchange factor 39 335 38295 9.71 0 Cell membrane NA Promotes cell proliferation. NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 9 +NX_Q8N4T8 Carbonyl reductase family member 4 237 25301 9.4 0 Mitochondrion matrix NA The heterotetramer with HSD17B8 has NADH-dependent 3-ketoacyl-acyl carrier protein reductase activity, and thereby plays a role in mitochondrial fatty acid biosynthesis (PubMed:19571038, PubMed:25203508). Within the heterotetramer, HSD17B8 binds NADH; CBR4 binds NADPD (PubMed:25203508). The homotetramer has NADPH-dependent quinone reductase activity (PubMed:19000905). Both homotetramer and the heterotetramer have broad substrate specificity and can reduce 9,10-phenanthrenequinone, 1,4-benzoquinone and various other o-quinones and p-quinones (in vitro) (PubMed:19000905, PubMed:19571038, PubMed:25203508). NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Lipid metabolism; fatty acid biosynthesis.;Fatty acyl-CoA biosynthesis PE1 4 +NX_Q8N4U5 T-complex protein 11-like protein 2 519 58091 4.89 0 Nucleus speckle NA NA NA Belongs to the TCP11 family. NA PE1 12 +NX_Q8N4V1 Membrane magnesium transporter 1 131 14686 9.2 2 Early endosome membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane NA Mediates Mg(2+) transport. NA Belongs to the membrane magnesium transporter (TC 1.A.67) family. Miscellaneous transport and binding events PE1 X +NX_Q8N4V2 Synaptic vesicle 2-related protein 548 60769 5.6 12 Synaptic vesicle membrane NA NA NA Belongs to the major facilitator superfamily. NA PE1 12 +NX_Q8N4W6 DnaJ homolog subfamily C member 22 341 38086 9.39 7 Membrane;Cytoplasmic vesicle NA May function as a co-chaperone. NA NA NA PE1 12 +NX_Q8N4W9 Zinc finger protein 808 903 104825 9.59 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q8N4X5 Actin filament-associated protein 1-like 2 818 91300 5.22 0 Cytoplasm;Cytosol;Cell membrane NA May play a role in a signaling cascade by enhancing the kinase activity of SRC. Contributes to SRC-regulated transcription activation. Tyrosine phosphorylated (by SRC). NA NA PE1 10 +NX_Q8N4Y2 EF-hand calcium-binding domain-containing protein 4A 399 44956 5.28 0 Nucleus NA Plays a role in store-operated Ca(2+) entry (SOCE). NA Belongs to the EFCAB4 family. NA PE1 11 +NX_Q8N4Z0 Ras-related protein Rab-42 218 24133 6.59 0 Membrane;Endoplasmic reticulum NA NA NA Belongs to the small GTPase superfamily. Rab family. RAB geranylgeranylation PE1 1 +NX_Q8N511 Transmembrane protein 199 208 23130 9.09 2 COPI-coated vesicle membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane Congenital disorder of glycosylation 2P Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation (PubMed:28296633). May be involved in Golgi homeostasis (PubMed:26833330). NA NA NA PE1 17 +NX_Q8N531 F-box/LRR-repeat protein 6 539 58588 9.51 0 Nucleoplasm;Cytoplasmic vesicle NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA NA NA PE1 8 +NX_Q8N535 Putative uncharacterized protein encoded by LINC00471 108 12106 5.44 0 NA NA NA NA NA NA PE5 2 +NX_Q8N539 Fibrinogen C domain-containing protein 1 461 50744 6.02 1 Membrane;Cell junction NA Acetyl group-binding receptor which shows a high-affinity and calcium-dependent binding to acetylated structures such as chitin, some N-acetylated carbohydrates, and amino acids, but not to their non-acetylated counterparts. Can facilitate the endocytosis of acetylated components. NA NA NA PE1 9 +NX_Q8N543 Prolyl 3-hydroxylase OGFOD1 542 63246 5.03 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Prolyl 3-hydroxylase that catalyzes 3-hydroxylation of 'Pro-62' of small ribosomal subunit uS12 (RPS23), thereby regulating protein translation termination efficiency. Involved in stress granule formation. NA Belongs to the TPA1 family. NA PE1 16 +NX_Q8N554 Zinc finger protein 276 614 67219 8.87 0 Cell membrane;Nucleolus;Nucleoplasm;Cytosol;Nucleus;Kinetochore NA May be involved in transcriptional regulation. NA NA NA PE1 16 +NX_Q8N556 Actin filament-associated protein 1 730 80725 8.87 0 Stress fiber;Cytosol;Focal adhesion;Cytoskeleton NA Can cross-link actin filaments into both network and bundle structures (By similarity). May modulate changes in actin filament integrity and induce lamellipodia formation. May function as an adapter molecule that links other proteins, such as SRC and PKC to the actin cytoskeleton. Seems to play a role in the development and progression of prostate adenocarcinoma by regulating cell-matrix adhesions and migration in the cancer cells. Phosphorylated on tyrosine residues by SRC. NA NA PE1 4 +NX_Q8N565 Melanoregulin 214 24927 5.53 0 Lysosome membrane;Cytoplasmic vesicle membrane;Cytoplasmic vesicle;Apical cell membrane;Melanosome membrane NA Probably functions as cargo-recognition protein that couples cytoplasmic vesicles to the transport machinery. Plays a role in hair pigmentation, a process that involves shedding of melanosome-containing vesicles from melanocytes, followed by phagocytosis of the melanosome-containing vesicles by keratinocytes. Functions on melanosomes as receptor for RILP and the complex formed by RILP and DCTN1, and thereby contributes to retrograde melanosome transport from the cell periphery to the center. Overexpression causes accumulation of late endosomes and/or lysosomes at the microtubule organising center (MTOC) at the center of the cell. Probably binds cholesterol and requires the presence of cholesterol in membranes to function in microtubule-mediated retrograde organelle transport. Binds phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate and phosphatidylinositol 3,5-bisphosphate, but not phosphatidylinositol 3,4-bisphosphate or phosphatidylinositol 4,5-bisphosphate (By similarity). Required for normal phagosome clearing and normal activation of lysosomal enzymes in lysosomes from retinal pigment epithelium cells (PubMed:19240024). Required for normal degradation of the lipofuscin component N-retinylidene-N-retinylethanolamine (A2E) in the eye. May function in membrane fusion and regulate the biogenesis of disk membranes of photoreceptor rod cells (By similarity). Palmitoylated. Palmitoylation is required to maintain the protein at the melanosome membrane. Belongs to the melanoregulin family. NA PE1 2 +NX_Q8N567 Zinc finger CCHC domain-containing protein 9 271 30477 9.33 0 Nucleoplasm;Nucleus;Nucleolus NA May down-regulate transcription mediated by NF-kappa-B and the serum response element. NA NA NA PE1 5 +NX_Q8N568 Serine/threonine-protein kinase DCLK2 766 83606 8.63 0 Cytoskeleton NA Protein kinase with a significantly reduced C(a2+)/CAM affinity and dependence compared to other members of the CaMK family. May play a role in the down-regulation of CRE-dependent gene activation probably by phosphorylation of the CREB coactivator CRTC2/TORC2 and the resulting retention of TORC2 in the cytoplasm (By similarity). Autophosphorylated. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. NA PE1 4 +NX_Q8N573 Oxidation resistance protein 1 874 97970 5.32 0 Cytoplasmic vesicle;Mitochondrion NA May be involved in protection from oxidative damage. NA Belongs to the OXR1 family. NA PE1 8 +NX_Q8N584 Tetratricopeptide repeat protein 39C 583 65870 6.59 0 Nucleoplasm NA NA NA Belongs to the TTC39 family. NA PE1 18 +NX_Q8N587 Zinc finger protein 561 486 55197 9.09 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8N594 MPN domain-containing protein 471 50662 5.49 0 Nucleoplasm;Nucleolus NA Probable protease (By similarity). Acts as a sensor of N(6)-methyladenosine methylation on DNA (m6A): recognizes and binds m6A DNA, leading to its degradation (PubMed:30982744). Degraded following binding to N(6)-methyladenosine methylated DNA (m6A). Belongs to the peptidase M67 family. NA PE1 19 +NX_Q8N5A5 Zinc finger CCCH-type with G patch domain-containing protein 531 57359 5.3 0 Nucleoplasm;Nucleus;Cell membrane NA Antagonizes the transcription repression by isoform 1 by competing for the binding of the NuRD complex. Does not bind DNA.;Transcription repressor that specifically binds the 5'-GGAG[GA]A[GA]A-3' consensus sequence. Represses transcription by recruiting the chromatin multiprotein complex NuRD to target promoters. Negatively regulates expression of EGFR, a gene involved in cell proliferation, survival and migration. Its ability to repress genes of the EGFR pathway suggest it may act as a tumor suppressor. Able to suppress breast carcinogenesis. Ubiquitinated in case of infection by HIV-1, leading to its degradation. Ubiquitination is mediated by the CUL4A-RBX1-DDB1-DCAF1/VPRBP complex that is hijacked by HIV-1 via interaction between HIV-1 Vpr and DCAF1/VPRBP. NA NA PE1 20 +NX_Q8N5B7 Ceramide synthase 5 392 45752 8.21 6 Nucleoplasm;Endoplasmic reticulum membrane;Nucleolus NA Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward palmitoyl-CoA (hexadecanoyl-CoA; C16:0-CoA) as acyl donor (PubMed:16951403, PubMed:18541923, PubMed:22144673, PubMed:22661289, PubMed:23530041, PubMed:26887952, PubMed:29632068). Can use other acyl donors, but with less efficiency (By similarity). Phosphorylated at the C-terminus by CK2. NA Lipid metabolism; sphingolipid metabolism.;Sphingolipid de novo biosynthesis PE1 12 +NX_Q8N5C1 Calcium homeostasis modulator protein 5 309 35170 8.49 4 Membrane;Golgi apparatus NA Pore-forming subunit of a voltage-gated ion channel. NA Belongs to the CALHM family. NA PE1 6 +NX_Q8N5C6 S1 RNA-binding domain-containing protein 1 995 111776 8.94 0 Cytosol;Mitochondrion NA NA NA NA NA PE1 2 +NX_Q8N5C7 DTW domain-containing protein 1 304 35248 8.65 0 Nucleoplasm;Nucleolus;Cytoplasmic vesicle NA NA NA Belongs to the DTW family. NA PE1 15 +NX_Q8N5C8 TGF-beta-activated kinase 1 and MAP3K7-binding protein 3 712 78653 8.81 0 Cytosol;Nucleus speckle NA Adapter linking MAP3K7/TAK1 and TRAF6 or TRAF2. Mediator of MAP3K7 activation, respectively in the IL1 and TNF signaling pathways. Plays a role in activation of NF-kappa-B and AP1 transcription factor.;May be an oncogenic factor. Ubiquitinated; following IL1 stimulation or TRAF6 overexpression.;Phosphorylated at Ser-506 by MAPKAPK2 and MAPKAPK3 following IL1 treatment. NA NOD-like receptor signaling pathway;FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;NOD1/2 Signaling Pathway;activated TAK1 mediates p38 MAPK activation;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6-mediated induction of TAK1 complex within TLR4 complex;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;IRAK2 mediated activation of TAK1 complex;IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation;TNFR1-induced NFkappaB signaling pathway;TICAM1,TRAF6-dependent induction of TAK1 complex;Interleukin-1 signaling PE1 X +NX_Q8N5D0 WD and tetratricopeptide repeats protein 1 677 75920 6.85 0 Golgi apparatus;Cytoplasmic vesicle NA May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. NA NA Protein modification; protein ubiquitination.;Neddylation PE1 1 +NX_Q8N5D6 Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 347 40127 8.68 1 Golgi apparatus membrane NA Catalyzes the formation of some glycolipid via the addition of N-acetylgalactosamine (GalNAc) in alpha-1,3-linkage to some substrate. Glycolipids probably serve for adherence of some pathogens. NA Belongs to the glycosyltransferase 6 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - globo series;Metabolic pathways PE1 9 +NX_Q8N5F7 NF-kappa-B-activating protein 415 47138 10.12 0 Nucleoplasm;Cytosol;Nucleus NA Acts as a transcriptional repressor. Plays a role as a transcriptional corepressor of the Notch-mediated signaling required for T-cell development. Also involved in the TNF and IL-1 induced NF-kappa-B activation. Associates with chromatin at the Notch-regulated SKP2 promoter. NA Belongs to the NKAP family. NA PE1 X +NX_Q8N5G0 Small integral membrane protein 20 67 7702 9.86 1 Nucleoplasm;Cytosol;Mitochondrion inner membrane;Nucleolus NA Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Promotes the progression of complex assembly after the association of MT-CO1/COX1 with COX4I1 and COX6C. Chaperone-like assembly factor required to stabilize newly synthesized MT-CO1/COX1 and to prevent its premature turnover. NA NA NA PE1 4 +NX_Q8N5G2 Macoilin 664 76178 9.17 4 Cytosol;Axon;Rough endoplasmic reticulum membrane;Nucleus membrane NA Plays a role in the regulation of neuronal activity. NA Belongs to the macoilin family. NA PE1 1 +NX_Q8N5H3 Leucine repeat adapter protein 25 189 20147 5.1 0 Cytoplasm;Lamellipodium NA Negatively regulates TGF-beta-induced signaling; in cooperation with SKI prevents the translocation of SMAD2 from the nucleus to the cytoplasm in response to TGF-beta. Acts as an adapter that mediates the specific recognition of LIMK1 by CDC42BPA and CDC42BPB in the lamellipodia. LRAP25-mediated CDC42BPA/CDC42BPB targeting to LIMK1 and the lamellipodium results in LIMK1 activation and the subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation. NA Belongs to the FAM89 family. NA PE1 11 +NX_Q8N5H7 SH2 domain-containing protein 3C 860 94411 8.2 0 Membrane;Cytoplasm NA Eph receptor-binding protein which may be a positive regulator of TCR signaling. Binding to BCAR1 is required to induce membrane ruffling and promote EGF-dependent cell migration (By similarity). NA NA NA PE1 9 +NX_Q8N5I2 Arrestin domain-containing protein 1 433 45981 6.53 0 Cell membrane NA Functions as an adapter recruiting ubiquitin-protein ligases to their specific substrates (PubMed:23886940, PubMed:27462458). Through an ubiquitination-dependent mechanism plays for instance a role in the incorporation of SLC11A2 into extracellular vesicles (PubMed:27462458). More generally, plays a role in the extracellular transport of proteins between cells through the release in the extracellular space of microvesicles (PubMed:22315426). By participating to the ITCH-mediated ubiquitination and subsequent degradation of NOTCH1, negatively regulates the NOTCH signaling pathway (PubMed:23886940). Ubiquitinated (PubMed:21191027, PubMed:22315426). Ubiquitination by WWP2; promotes localization to extracellular microvesicles (PubMed:22315426). Ubiquitinated by WWP1 (PubMed:21191027). Belongs to the arrestin family. NA PE1 9 +NX_Q8N5I3 Potassium channel regulatory protein 272 31048 6.91 0 Endoplasmic reticulum;Cytoplasmic vesicle NA Inhibits potassium fluxes in cells. May regulate Kv1 family channel proteins by retaining a fraction of channels in endomembranes. NA NA NA PE1 13 +NX_Q8N5I4 Dehydrogenase/reductase SDR family member on chromosome X 330 36443 9.1 0 Cytosol;Secreted;Cytoskeleton NA Involved in the positive regulation of starvation-induced autophagy (PubMed:25076851). NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. NA PE1 X +NX_Q8N5I9 Uncharacterized protein C12orf45 185 20123 5.1 0 Nucleoplasm;Nucleus membrane;Nucleus NA NA NA NA NA PE1 12 +NX_Q8N5J2 Ubiquitin carboxyl-terminal hydrolase MINDY-1 469 51778 4.75 0 Nucleoplasm NA Hydrolase that can specifically remove 'Lys-48'-linked conjugated ubiquitin from proteins. Has exodeubiquitinase activity and has a preference for long polyubiquitin chains. May play a regulatory role at the level of protein turnover. NA Belongs to the MINDY deubiquitinase family. FAM63 subfamily. NA PE1 1 +NX_Q8N5J4 Transcription factor Spi-C 248 29180 9.02 0 Nucleus NA Controls the development of red pulp macrophages required for red blood cells recycling and iron homeostasis. Transcription factor that binds to the PU-box, a purine-rich DNA sequence (5'-GAGGA[AT]-3') that can act as a lymphoid-specific enhancer. Regulates VCAM1 gene expression (By similarity). NA Belongs to the ETS family. NA PE2 12 +NX_Q8N5K1 CDGSH iron-sulfur domain-containing protein 2 135 15278 9.66 1 Mitochondrion outer membrane;Endoplasmic reticulum;Endoplasmic reticulum membrane Wolfram syndrome 2 Regulator of autophagy that contributes to antagonize BECN1-mediated cellular autophagy at the endoplasmic reticulum. Participates in the interaction of BCL2 with BECN1 and is required for BCL2-mediated depression of endoplasmic reticulum Ca(2+) stores during autophagy. Contributes to BIK-initiated autophagy, while it is not involved in BIK-dependent activation of caspases. Involved in life span control, probably via its function as regulator of autophagy. NA Belongs to the CISD protein family. CISD2 subfamily. NA PE1 4 +NX_Q8N5L8 Ribonuclease P protein subunit p25-like protein 163 17631 10.32 0 Nucleoplasm;Nucleus NA May be a component of ribonuclease P or MRP. NA Belongs to the histone-like Alba family. Ribosome biogenesis in eukaryotes;RNA transport PE1 9 +NX_Q8N5M1 ATP synthase mitochondrial F1 complex assembly factor 2 289 32772 6.62 0 Cytosol;Mitochondrion Mitochondrial complex V deficiency, nuclear type 1 May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase). NA Belongs to the ATP12 family. NA PE1 17 +NX_Q8N5M4 Tetratricopeptide repeat protein 9C 171 20013 9.02 0 Cytoplasm;Nucleoplasm NA NA NA Belongs to the TTC9 family. NA PE1 11 +NX_Q8N5M9 Protein jagunal homolog 1 183 21125 9.72 4 Cytoplasm;Endoplasmic reticulum membrane;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleus Neutropenia, severe congenital 6, autosomal recessive Endoplasmic reticulum transmembrane protein involved in vesicle-mediated transport, which is required for neutrophil function. Required for vesicle-mediated transport; it is however unclear whether it is involved in early secretory pathway or intracellular protein transport. Acts as a regulator of neutrophil function, probably via its role in vesicle-mediated transport: required for defense against fungal pathogens and for granulocyte colony-stimulating factor (GM-CSF) signaling pathway; possibly by regulating glycosylation and/or targeting of proteins contributing to the viability and migration of neutrophils. NA Belongs to the jagunal family. NA PE1 3 +NX_Q8N5N4 Uncharacterized protein C3orf22 141 15686 9.89 0 NA NA NA NA NA NA PE2 3 +NX_Q8N5N7 39S ribosomal protein L50, mitochondrial 158 18325 7.73 0 Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mL50 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 9 +NX_Q8N5P1 Zinc finger CCCH domain-containing protein 8 291 33576 8.55 0 Nucleoplasm;Nucleus NA Acts as a transcriptional repressor of the GATA3 promoter. Sequence-specific DNA-binding factor that binds to the 5'-AGGTCTC-3' sequence within the negative cis-acting element intronic regulatory region (IRR) of the GATA3 gene (By similarity). Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:23932780). Induces thymocyte apoptosis when overexpressed, which may indicate a role in regulation of thymocyte homeostasis. NA NA RNA polymerase II transcribes snRNA genes PE1 2 +NX_Q8N5Q1 Protein FAM71E2 922 99915 9.45 0 NA NA NA NA Belongs to the FAM71 family. NA PE1 19 +NX_Q8N5R6 Coiled-coil domain-containing protein 33 958 107216 6.32 0 NA NA NA NA NA NA PE1 15 +NX_Q8N5S1 Solute carrier family 25 member 41 370 40795 9.35 6 Mitochondrion inner membrane NA NA NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 19 +NX_Q8N5S3 Uncharacterized protein C2orf73 287 32142 9.07 0 NA NA NA NA NA NA PE1 2 +NX_Q8N5S9 Calcium/calmodulin-dependent protein kinase kinase 1 505 55735 5.55 0 Cytoplasm;Cytosol;Nucleus NA Calcium/calmodulin-dependent protein kinase that belongs to a proposed calcium-triggered signaling cascade involved in a number of cellular processes. Phosphorylates CAMK1, CAMK1D, CAMK1G and CAMK4. Involved in regulating cell apoptosis. Promotes cell survival by phosphorylating AKT1/PKB that inhibits pro-apoptotic BAD/Bcl2-antagonist of cell death. Appears to be autophosphorylated in a Ca(2+)/calmodulin-dependent manner. Phosphorylated at multiple sites by PRCAKA/PKA. Phosphorylation of Ser-458 is blocked upon binding to Ca(2+)/calmodulin. In vitro, phosphorylated by CAMK1 and CAMK4 (By similarity).;CAMKK1 is phosphorylated by CAMK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);Autophosphorylated (Phosphothreonine:PTM-0254) Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Adipocytokine signaling pathway;CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde;CaMK IV-mediated phosphorylation of CREB;Activation of RAC1 downstream of NMDARs PE1 17 +NX_Q8N5T2 TBC1 domain family member 19 526 60208 5.67 0 Nucleoplasm;Nucleus membrane NA May act as a GTPase-activating protein for Rab family protein(s). NA NA NA PE1 4 +NX_Q8N5U0 Uncharacterized protein C11orf42 333 36368 8.57 0 NA NA NA NA NA NA PE1 11 +NX_Q8N5U1 Membrane-spanning 4-domains subfamily A member 15 240 25050 5.63 4 Membrane;Cytosol;Cell membrane NA May be involved in signal transduction as a component of a multimeric receptor complex. NA Belongs to the MS4A family. NA PE2 11 +NX_Q8N5U6 RING finger protein 10 811 89927 6.48 0 Cytoplasm;Nucleoplasm;Mitochondrion;Nucleus NA Transcriptional factor involved in the regulation of MAG (Myelin-associated glycoprotein) expression. Acts as a regulator of Schwann cell differentiation and myelination. NA Belongs to the RNF10 family. NA PE1 12 +NX_Q8N5V2 Ephexin-1 710 82496 5.42 0 Cytoplasm;Cell membrane;Growth cone;Membrane;Cytosol NA Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1 and CDC42. Plays a role in axon guidance regulating ephrin-induced growth cone collapse and dendritic spine morphogenesis. Upon activation by ephrin through EPHA4, the GEF activity switches toward RHOA resulting in its activation. Activated RHOA promotes cone retraction at the expense of RAC1- and CDC42-stimulated growth cone extension (By similarity). Src-dependent phosphorylation at Tyr-179 upon EPHA4 activation increases the guanine exchange factor activity toward RHOA. Phosphorylation by CDK5 upon EPHA4 activation by EFNA1 may regulate dendritic spine morphogenesis (By similarity). NA Axon guidance;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events;EPHA-mediated growth cone collapse PE1 2 +NX_Q8N5W8 Protein FAM24B 94 10147 6.68 0 Secreted NA NA NA Belongs to the FAM24 family. NA PE1 10 +NX_Q8N5W9 Refilin-B 214 22882 5.27 0 Cytosol;Cell membrane;Cytoskeleton NA Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in the formation of cartilaginous skeletal elements. NA Belongs to the Refilin family. NA PE1 17 +NX_Q8N5X7 Eukaryotic translation initiation factor 4E type 3 224 24441 5.98 0 Nucleolus NA Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis. May act as an inhibitor of EIF4E1 activity (By similarity). NA Belongs to the eukaryotic initiation factor 4E family. ISG15 antiviral mechanism PE1 3 +NX_Q8N5Y2 Male-specific lethal 3 homolog 521 59824 8.4 0 Nucleus NA Has a role in chromatin remodeling and transcriptional regulation (PubMed:20018852, PubMed:20657587, PubMed:20943666, PubMed:21217699). Has a role in X inactivation (PubMed:21217699). Component of the MSL complex which is responsible for the majority of histone H4 acetylation at 'Lys-16' which is implicated in the formation of higher-order chromatin structure (PubMed:16227571, PubMed:20657587, PubMed:16543150). Specifically recognizes histone H4 monomethylated at 'Lys-20' (H4K20Me1) in a DNA-dependent manner and is proposed to be involved in chromosomal targeting of the MSL complex (PubMed:20657587, PubMed:20943666). NA NA HATs acetylate histones PE1 X +NX_Q8N5Y8 Protein mono-ADP-ribosyltransferase PARP16 322 36383 9.17 1 Endoplasmic reticulum membrane NA Intracellular mono-ADP-ribosyltransferase that may play a role in different processes through the mono-ADP-ribosylation of proteins involved in those processes (PubMed:23103912, PubMed:22701565, PubMed:25043379). May play a role in the unfolded protein response (UPR), by ADP-ribosylating and activating EIF2AK3 and ERN1, two important UPR effectors (PubMed:23103912). May also mediate mono-ADP-ribosylation of karyopherin KPNB1 a nuclear import factor (PubMed:22701565). May not modify proteins on arginine or cysteine residues compared to other mono-ADP-ribosyltransferases (PubMed:22701565). Auto-mono-ADP-ribosylated. NA Nicotinamide salvaging PE1 15 +NX_Q8N5Z0 Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial 425 47352 6.47 0 Cytoplasmic vesicle;Mitochondrion;Cell membrane NA Transaminase with broad substrate specificity. Has transaminase activity towards aminoadipate, kynurenine, methionine and glutamate. Shows activity also towards tryptophan, aspartate and hydroxykynurenine. Accepts a variety of oxo-acids as amino-group acceptors, with a preference for 2-oxoglutarate, 2-oxocaproic acid, phenylpyruvate and alpha-oxo-gamma-methiol butyric acid. Can also use glyoxylate as amino-group acceptor (in vitro). NA Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 4/6.;Lysine biosynthesis;Lysine degradation;Tryptophan metabolism;Metabolic pathways;Tryptophan catabolism;Lysine catabolism PE1 4 +NX_Q8N5Z5 BTB/POZ domain-containing protein KCTD17 321 35670 4.82 0 Cytoplasm Dystonia 26, myoclonic Is a positive regulator of ciliogenesis, playing a crucial role in the initial steps of axoneme extension. It acts as a substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation (PubMed:25270598). May be involved in endoplasmic reticulum calcium ion homeostasis (PubMed:25983243). NA NA NA PE1 22 +NX_Q8N608 Inactive dipeptidyl peptidase 10 796 90888 6.11 1 Cell membrane Asthma Promotes cell surface expression of the potassium channel KCND2 (PubMed:15454437). Modulates the activity and gating characteristics of the potassium channel KCND2 (PubMed:15454437). Has no dipeptidyl aminopeptidase activity (PubMed:12662155). N-glycosylation is important for cell surface expression, specially at Asn-257, which is crucial. Belongs to the peptidase S9B family. DPPIV subfamily. NA PE1 2 +NX_Q8N609 Translocating chain-associated membrane protein 1-like 1 369 42162 9.38 8 Endoplasmic reticulum membrane;Endoplasmic reticulum;Mitochondrion NA Stimulatory or required for the translocation of secretory proteins across the ER membrane. NA Belongs to the TRAM family. NA PE1 4 +NX_Q8N612 FTS and Hook-interacting protein 972 105568 6.33 0 Cytoplasm;Mitochondrion;Nucleus NA Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). NA Belongs to the UPF0518 family. NA PE1 11 +NX_Q8N614 Transmembrane protein 156 296 34323 7.98 2 Membrane NA NA NA NA NA PE1 4 +NX_Q8N616 Putative uncharacterized protein encoded by LINC00311 119 12924 6.53 0 NA NA NA NA NA NA PE5 16 +NX_Q8N628 Olfactory receptor 2C3 320 35376 7.13 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8N635 Meiosis-specific with OB domain-containing protein 442 49313 5.98 0 Cytoplasm;Nucleus;Chromosome Spermatogenic failure 22 Single-stranded DNA-binding protein required for homologous recombination in meiosis I. Required for double strand breaks (DSBs) repair and crossover formation and promotion of faithful and complete synapsis. Not required for the initial loading of recombinases but required to maintain a proper number of RAD51 and DMC1 foci after the zygotene stage. May act by ensuring the stabilization of recombinases, which is required for successful homology search and meiotic recombination. Displays Single-stranded DNA 3'-5' exonuclease activity in vitro (By similarity). NA Belongs to the MEIOB family. NA PE1 16 +NX_Q8N653 Leucine-zipper-like transcriptional regulator 1 840 94719 6.12 0 Golgi apparatus;Recycling endosome;Endomembrane system;Nucleoplasm;Centrosome;Cytosol Noonan syndrome 2;Glioma;Noonan syndrome 10;Schwannomatosis 2 Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates ubiquitination of Ras (K-Ras/KRAS, N-Ras/NRAS and H-Ras/HRAS) (PubMed:30442762, PubMed:30442766, PubMed:30481304). Is a negative regulator of RAS-MAPK signaling that acts by controlling Ras levels and decreasing Ras association with membranes (PubMed:30442762, PubMed:30442766, PubMed:30481304). Phosphorylated on tyrosine upon induction of apoptosis, leading to its degradation by the proteasome. Belongs to the LZTR1 family. Protein modification; protein ubiquitination. PE1 22 +NX_Q8N660 Neuroblastoma breakpoint family member 15 670 77563 4.63 0 Cytoplasm NA NA NA Belongs to the NBPF family. NA PE2 1 +NX_Q8N661 Lysoplasmalogenase 226 24352 6.15 7 Membrane;Cytoplasm;Centrosome;Midbody NA Enzyme catalyzing the degradation of lysoplasmalogen. Lysoplasmalogens are formed by the hydrolysis of the abundant membrane glycerophospholipids plasmalogens. May control the respective levels of plasmalogens and lysoplasmalogens in cells and modulate cell membrane properties. NA Belongs to the TMEM86 family. Acyl chain remodelling of PC PE1 19 +NX_Q8N668 COMM domain-containing protein 1 190 21178 5.85 0 Cytoplasm;Endosome membrane;Recycling endosome;Early endosome;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA Proposed scaffold protein that is implicated in diverse physiological processes and whose function may be in part linked to its ability to regulate ubiquitination of specific cellular proteins. Can modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes by displacing CAND1; in vitro promotes CRL E3 activity and dissociates CAND1 from CUL1 and CUL2 (PubMed:21778237). Promotes ubiquitination of NF-kappa-B subunit RELA and its subsequent proteasomal degradation. Down-regulates NF-kappa-B activity (PubMed:15799966, PubMed:17183367, PubMed:20048074). Involved in the regulation of membrane expression and ubiquitination of SLC12A2 (PubMed:23515529). Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits and by promoting their ubiquitination presumably involving NEDD4L. Promotes the localization of SCNN1D to recycling endosomes (PubMed:14645214, PubMed:20237237, PubMed:21741370). Promotes CFTR cell surface expression through regulation of its ubiquitination (PubMed:21483833). Down-regulates SOD1 activity by interfering with its homodimerization (PubMed:20595380). Plays a role in copper ion homeostasis. Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes (PubMed:25355947). Can bind one copper ion per monomer (PubMed:17309234). May function to facilitate biliary copper excretion within hepatocytes. Binds to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) (PubMed:18940794). Involved in the regulation of HIF1A-mediated transcription; competes with ARNT/Hif-1-beta for binding to HIF1A resulting in decreased DNA binding and impaired transcriptional activation by HIF-1 (PubMed:20458141). Negatively regulates neuroblastoma G1/S phase cell cycle progression and cell proliferation by stimulating ubiquitination of NF-kappa-B subunit RELA and NF-kappa-B degradation in a FAM107A- and actin-dependent manner (PubMed:28604741). Acetylated by EP300 ina stimuli-specific manner; protecting it from XIAP-mediated proteasomal degradation and required for interaction with RElA in response to stress.;Ubiquitinated; undergoes both 'Lys-63'- and 'Lys-48'-linked polyubiquitination. Ubiquitinated by XIAP, leading to its proteasomal degradation. NA Neddylation PE1 2 +NX_Q8N680 Zinc finger and BTB domain-containing protein 2 514 57337 5.71 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 6 +NX_Q8N682 DNA damage-regulated autophagy modulator protein 1 238 26253 6.39 6 Lysosome membrane NA Lysosomal modulator of autophagy that plays a central role in p53/TP53-mediated apoptosis. Not involved in p73/TP73-mediated autophagy. NA Belongs to the DRAM/TMEM150 family. NA PE1 12 +NX_Q8N684 Cleavage and polyadenylation specificity factor subunit 7 471 52050 7.82 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs (PubMed:8626397, PubMed:17024186, PubMed:29276085). CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3'-end, so called cleavage and polyadenylation signals (pA signals) (PubMed:8626397, PubMed:17024186). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3'-end formation (PubMed:23187700, PubMed:29276085). The CFIm complex acts as a key regulator of cleavage and polyadenylation site choice during APA through its binding to 5'-UGUA-3' elements localized in the 3'-untranslated region (UTR) for a huge number of pre-mRNAs (PubMed:20695905, PubMed:29276085). CPSF7 activates directly the mRNA 3'-processing machinery (PubMed:29276085). Binds to pA signals in RNA substrates (PubMed:8626397, PubMed:17024186). Phosphorylated (PubMed:29276085).;Asymmetrically dimethylated on arginine residues by PRMT1 (PubMed:20562214). Belongs to the RRM CPSF6/7 family. mRNA surveillance pathway;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Processing of Intronless Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 11 +NX_Q8N687 Beta-defensin 125 156 17537 5.31 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE2 20 +NX_Q8N688 Beta-defensin 123 67 8105 9.77 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE2 20 +NX_Q8N690 Beta-defensin 119 84 9822 8.92 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE1 20 +NX_Q8N693 Homeobox protein ESX1 406 44297 5.19 0 Cytoplasm;Nucleus speckle;Nucleus NA May coordinately regulate cell cycle progression and transcription during spermatogenesis. Inhibits degradation of polyubiquitinated cyclin A and cyclin B1 and thereby arrests the cell cycle at early M phase. ESXR1-N acts as a transcriptional repressor. Binds to the sequence 5'-TAATGTTATTA-3' which is present within the first intron of the KRAS gene and inhibits its expression. ESXR1-C has the ability to inhibit cyclin turnover. Undergoes proteolytic cleavage; produces a 45 kDa N-terminal homeodomain-containing fragment (ESXR1-N) and a 20 kDa C-terminal fragment (ESXR1-C). NA NA PE1 X +NX_Q8N695 Sodium-coupled monocarboxylate transporter 1 610 66578 7.9 13 Apical cell membrane NA Acts as an electrogenic sodium (Na(+)) and chloride (Cl-)-dependent sodium-coupled solute transporter, including transport of monocarboxylates (short-chain fatty acids including L-lactate, D-lactate, pyruvate, acetate, propionate, valerate and butyrate), lactate, mocarboxylate drugs (nicotinate, benzoate, salicylate and 5-aminosalicylate) and ketone bodies (beta-D-hydroxybutyrate, acetoacetate and alpha-ketoisocaproate), with a Na(+):substrate stoichiometry of between 4:1 and 2:1. Catalyzes passive carrier mediated diffusion of iodide. Mediates iodide transport from the thyrocyte into the colloid lumen through the apical membrane. May be responsible for the absorption of D-lactate and monocarboxylate drugs from the intestinal tract. Acts as a tumor suppressor, suppressing colony formation in colon cancer, prostate cancer and glioma cell lines. May play a critical role in the entry of L-lactate and ketone bodies into neurons by a process driven by an electrochemical Na(+) gradient and hence contribute to the maintenance of the energy status and function of neurons. NA Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. Organic anion transporters;Nicotinamide salvaging PE1 12 +NX_Q8N697 Solute carrier family 15 member 4 577 62034 9.2 12 Membrane;Nucleoplasm NA Proton oligopeptide cotransporter. Transports free histidine and certain di- and tripeptides. NA Belongs to the PTR2/POT transporter (TC 2.A.17) family. Proton/oligopeptide cotransporters;Neutrophil degranulation PE1 12 +NX_Q8N699 Myc target protein 1 235 26593 9.88 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA May regulate certain MYC target genes, MYC seems to be a direct upstream transcriptional activator. Does not seem to significantly affect growth cell capacity. Overexpression seems to mediate many of the known phenotypic features associated with MYC, including promotion of apoptosis, alteration of morphology, enhancement of anchorage-independent growth, tumorigenic conversion, promotion of genomic instability, and inhibition of hematopoietic differentiation (By similarity). NA Belongs to the MYCT1 family. NA PE1 6 +NX_Q8N6C5 Immunoglobulin superfamily member 1 1336 148936 5.63 2 Membrane;Cytosol;Secreted Hypothyroidism, central, and testicular enlargement Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor. Antagonizes activin A signaling in the presence or absence of inhibin B (By similarity). Necessary to mediate a specific antagonistic effect of inhibin B on activin-stimulated transcription. NA NA NA PE1 X +NX_Q8N6C7 Putative uncharacterized protein encoded by MIR7-3HG 128 14321 10.38 0 NA NA NA NA NA NA PE5 19 +NX_Q8N6C8 Leukocyte immunoglobulin-like receptor subfamily A member 3 439 47472 8.37 0 Secreted NA Acts as soluble receptor for class I MHC antigens. Binds both classical and non-classical HLA class I molecules but with reduced affinities compared to LILRB1 or LILRB2. Binds with high affinity to the surface of monocytes, leading to abolish LPS-induced TNF-alpha production by monocytes. N-glycosylation is required for ligand binding. NA Osteoclast differentiation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Neutrophil degranulation PE1 19 +NX_Q8N6D2 E3 ubiquitin-protein ligase RNF182 247 27402 5.82 2 Golgi apparatus;Cytoplasm;Membrane;Nucleoplasm;Cytoplasmic vesicle NA E3 ubiquitin-protein ligase that mediates the ubiquitination of ATP6V0C and targets it to degradation via the ubiquitin-proteasome pathway (PubMed:18298843). Plays also a role in the inhibition of TLR-triggered innate immune response by mediating 'Lys'-48-linked ubiquitination and subsequent degradation of NF-kappa-B component RELA (PubMed:31432514). NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 6 +NX_Q8N6D5 Ankyrin repeat domain-containing protein 29 301 32442 9.46 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 18 +NX_Q8N6F1 Claudin-19 224 23229 8.49 4 Tight junction;Cell membrane Hypomagnesemia 5, renal, with or without ocular involvement Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. NA Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE1 1 +NX_Q8N6F7 Germinal center-associated signaling and motility protein 178 21005 6.07 0 Cytoplasm;Cell membrane NA Involved in the negative regulation of lymphocyte motility. It mediates the migration-inhibitory effects of IL6. Serves as a positive regulator of the RhoA signaling pathway. Enhancement of RhoA activation results in inhibition of lymphocyte and lymphoma cell motility by activation of its downstream effector ROCK. Is a regulator of B-cell receptor signaling, that acts through SYK kinase activation. Phosphorylation on tyrosine residues can be induced by IL6. Phosphorylation is mediated by LYN. NA NA PE1 3 +NX_Q8N6F8 Methyltransferase-like protein 27 245 26522 5.74 0 Focal adhesion NA NA NA NA NA PE1 7 +NX_Q8N6G1 Putative uncharacterized protein encoded by LINC00337 96 10504 9.35 0 NA NA NA NA NA NA PE5 1 +NX_Q8N6G2 Testis-expressed protein 26 289 33595 9.4 0 NA NA NA NA NA NA PE1 13 +NX_Q8N6G5 Chondroitin sulfate N-acetylgalactosaminyltransferase 2 542 62572 5.5 1 Golgi stack membrane;Endoplasmic reticulum NA Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. NA Belongs to the chondroitin N-acetylgalactosaminyltransferase family. Glycosaminoglycan biosynthesis - chondroitin sulfate;Metabolic pathways;Chondroitin sulfate biosynthesis PE1 10 +NX_Q8N6G6 ADAMTS-like protein 1 1762 193409 8.18 0 Cytoplasmic vesicle;Extracellular matrix NA NA Disulfide bonds are present.;C-, N- and O-glycosylated. O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTSL1. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion. NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 9 +NX_Q8N6H7 ADP-ribosylation factor GTPase-activating protein 2 521 56720 8.08 0 Golgi apparatus;Cytoplasm;Golgi apparatus membrane NA GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Implicated in coatomer-mediated protein transport between the Golgi complex and the endoplasmic reticulum. Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes. NA NA Endocytosis;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 11 +NX_Q8N6I1 EP300-interacting inhibitor of differentiation 2 236 25190 6.94 0 Nucleoplasm;Nucleus NA Interacts with EP300 and acts as a repressor of MYOD-dependent transcription and muscle differentiation. Inhibits EP300 histone acetyltransferase activity. Acts as a repressor of TGFB/SMAD transcriptional responses. May act as a repressor of the TGFB/SMAD3-dependent signaling by selectively blocking formation of TGFB-induced SMAD3-SMAD4 complex. NA NA NA PE1 19 +NX_Q8N6I4 Transmembrane protein 251 163 18747 8.38 2 Membrane;Golgi apparatus;Cell junction NA NA NA Belongs to the TMEM251 family. NA PE1 14 +NX_Q8N6K0 Testis-expressed protein 29 151 16649 4.99 1 Membrane NA NA NA NA NA PE1 13 +NX_Q8N6K4 Putative uncharacterized protein MGC34800 173 17423 9.65 0 NA NA NA NA NA NA PE2 16 +NX_Q8N6K7 Sterile alpha motif domain-containing protein 3 520 61237 6.67 0 NA NA NA NA NA NA PE1 6 +NX_Q8N6L0 Protein KASH5 562 62783 4.65 1 Nucleus outer membrane;Telomere;Nucleus NA As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Required for telomere attachment to nuclear envelope in the prophase of meiosis and for rapid telomere prophase movements implicating a SUN1/2:KASH5 LINC complex in which SUN1 and SUN2 seem to act at least partial redundantly. Required for homologue pairing during meiotic prophase in spermatocytes and probably oocytes. Essential for male and female gametogenesis. Recruits cytoplasmic dynein to telomere attachment sites at the nuclear envelope in spermatocytes. In oocytes is involved in meiotic resumption and spindle formation. NA NA NA PE1 19 +NX_Q8N6L1 Keratinocyte-associated protein 2 136 14679 9.67 3 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (PubMed:22467853). May be involved in N-glycosylation of APP (amyloid-beta precursor protein). Can modulate gamma-secretase cleavage of APP by enhancing endoprotelysis of PSEN1 (PubMed:21768116). NA Belongs to the KRTCAP2 family. Protein modification; protein glycosylation. PE1 1 +NX_Q8N6L7 Transmembrane protein 252 170 18703 4.88 2 Membrane NA NA NA NA NA PE2 9 +NX_Q8N6M0 Deubiquitinase OTUD6B 293 33813 5.77 0 Golgi apparatus;Nucleoplasm;Cytosol Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies Stimulates protein synthesis. Influences the expression of CCND1/cyclin D1 by promoting its translation and regulates MYC/c-Myc protein stability.;Deubiquitinating enzyme that may play a role in the ubiquitin-dependent regulation of protein synthesis, downstream of mTORC1 (PubMed:21267069, PubMed:27864334). May associate with the protein synthesis initiation complex and modify its ubiquitination to repress translation (PubMed:27864334). May also repress DNA synthesis and modify different cellular targets thereby regulating cell growth and proliferation (PubMed:27864334). May also play a role in proteasome assembly and function (PubMed:28343629). NA NA NA PE1 8 +NX_Q8N6M3 Fat storage-inducing transmembrane protein 2 262 29855 8.93 6 Endoplasmic reticulum membrane NA Plays an important role in lipid droplet accumulation. Plays a role in the regulation of cell morphology and cytoskeletal organization. NA Belongs to the FIT family. Lipid particle organization PE1 20 +NX_Q8N6M5 Probable allantoicase 391 43559 5.79 0 NA NA The function of this enzyme is unclear as allantoicase activity is not known to exist in mammals. NA Belongs to the allantoicase family. Purine metabolism;Metabolic pathways PE2 2 +NX_Q8N6M6 Aminopeptidase O 819 93572 5.81 0 Cytoplasm;Cell junction;Nucleolus NA Aminopeptidases catalyze the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates. Able to cleave angiotensin III to generate angiotensin IV, a bioactive peptide of the renin-angiotensin pathway. Not able to cleave angiotensin I and angiotensin II. May play a role in the proteolytic processing of bioactive peptides in tissues such as testis and heart. NA Belongs to the peptidase M1 family. Metabolism of Angiotensinogen to Angiotensins PE1 9 +NX_Q8N6M8 IQ domain-containing protein F1 205 23699 9.68 0 Acrosome NA Involved in sperm capacitation and acrosome reaction. NA NA NA PE1 3 +NX_Q8N6M9 AN1-type zinc finger protein 2A 145 16477 8.7 0 Cytoplasm;Nucleus NA NA NA NA NA PE1 7 +NX_Q8N6N2 Tetratricopeptide repeat protein 9B 239 25932 9.55 0 NA NA NA NA Belongs to the TTC9 family. NA PE1 19 +NX_Q8N6N3 UPF0690 protein C1orf52 182 20599 5.14 0 Nucleoplasm NA NA NA Belongs to the UPF0690 family. NA PE1 1 +NX_Q8N6N6 Protein NATD1 113 13032 8.84 0 NA NA NA NA Belongs to the NATD1 family. NA PE1 17 +NX_Q8N6N7 Acyl-CoA-binding domain-containing protein 7 88 9790 6.26 0 Cytoplasmic vesicle;Cytosol NA Binds medium- and long-chain acyl-CoA esters. NA Belongs to the ACBD7 family. Mitochondrial Fatty Acid Beta-Oxidation PE1 10 +NX_Q8N6P7 Interleukin-22 receptor subunit alpha-1 574 63077 5.81 1 Membrane NA Component of the receptor for IL20, IL22 and IL24. Component of IL22 receptor formed by IL22RA1 and IL10RB enabling IL22 signaling via JAK/STAT pathways. IL22 also induces activation of MAPK1/MAPK3 and Akt kinases pathways. Component of one of the receptor for IL20 and IL24 formed by IL22RA1 and IL20RB also signaling through STATs activation. Mediates IL24 antiangiogenic activity as well as IL24 inhibitory effect on endothelial cell tube formation and differentiation. NA Belongs to the type II cytokine receptor family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-20 family signaling PE1 1 +NX_Q8N6Q1 Transmembrane and coiled-coil domain-containing protein 5A 288 34174 5.83 1 Membrane NA NA NA Belongs to the TMCO5 family. NA PE1 15 +NX_Q8N6Q3 CD177 antigen 437 46363 5.87 0 Cell membrane;Secreted;Lamellipodium;Cytoplasmic granule membrane;Membrane raft NA In association with beta-2 integrin heterodimer ITGAM/CD11b and ITGB2/CD18, mediates activation of TNF-alpha primed neutrophils including degranulation and superoxide production (PubMed:21193407). In addition, by preventing beta-2 integrin internalization and attenuating chemokine signaling favors adhesion over migration (PubMed:28807980). Heterophilic interaction with PECAM1 on endothelial cells plays a role in neutrophil transendothelial migration in vitro (PubMed:17580308). However, appears to be dispensable for neutrophil recruitment caused by bacterial infection in vivo (PubMed:23461681). Acts as a receptor for the mature form of protease PRTN3 allowing its display at the cell surface of neutrophils (PubMed:17244676, PubMed:18462208). By displaying PRTN3 at the neutrophil cell surface, may play a role in enhancing endothelial cell junctional integrity and thus vascular integrity during neutrophil diapedesis (PubMed:23202369). A soluble form may also be produced by proteolytic cleavage at the cell surface (shedding).;N-glycosylated. NA Common Pathway of Fibrin Clot Formation;Cell surface interactions at the vascular wall;Neutrophil degranulation PE1 19 +NX_Q8N6Q8 Methyltransferase-like protein 25 603 68213 6.69 0 Cytosol;Mitochondrion;Cell membrane NA Putative methyltransferase. NA NA NA PE1 12 +NX_Q8N6R0 eEF1A lysine and N-terminal methyltransferase 699 78768 6.29 0 Cytosol NA Dual methyltransferase that catalyzes methylation of elongation factor 1-alpha (EEF1A1 and EEF1A2) at two different positions, and is therefore involved in the regulation of mRNA translation (PubMed:30612740, PubMed:30143613). Via its C-terminus, methylates EEF1A1 and EEF1A2 at the N-terminal residue 'Gly-2' (PubMed:30143613). Via its N-terminus dimethylates EEF1A1 and EEF1A2 at residue 'Lys-55' (PubMed:30612740, PubMed:30143613). Has no activity towards core histones H2A, H2B, H3 and H4 (PubMed:30612740). NA Belongs to the methyltransferase superfamily. NA PE1 1 +NX_Q8N6R1 Stress-associated endoplasmic reticulum protein 2 65 7431 10.61 1 Membrane;Endoplasmic reticulum membrane NA May interact with target proteins during translocation into the lumen of the endoplasmic reticulum. May protect unfolded target proteins against degradation and facilitate correct glycosylation (Potential). NA Belongs to the RAMP4 family. NA PE1 13 +NX_Q8N6S4 Ankyrin repeat domain-containing protein 13C 541 60818 6.46 0 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Acts as a molecular chaperone for G protein-coupled receptors, regulating their biogenesis and exit from the ER. NA NA NA PE1 1 +NX_Q8N6S5 ADP-ribosylation factor-like protein 6-interacting protein 6 226 24676 5.94 3 Nucleus inner membrane;Cytosol;Nucleus membrane NA NA NA Belongs to the ARL6IP6 family. NA PE1 2 +NX_Q8N6T0 Type 2 DNA topoisomerase 6 subunit B-like 577 64047 6.2 0 Centrosome;Chromosome NA Component of a topoisomerase 6 complex specifically required for meiotic recombination. Together with SPO11, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. The complex promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles. NA Belongs to the TOP6B-like family. NA PE1 11 +NX_Q8N6T3 ADP-ribosylation factor GTPase-activating protein 1 406 44668 5.46 0 Golgi apparatus;Cytoplasm;Nucleus membrane;Cytoplasmic vesicle NA GTPase-activating protein (GAP) for the ADP ribosylation factor 1 (ARF1). Involved in membrane trafficking and /or vesicle transport. Promotes hydrolysis of the ARF1-bound GTP and thus, is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles, a prerequisite for vesicle's fusion with target compartment. Probably regulates ARF1-mediated transport via its interaction with the KDELR proteins and TMED2. Overexpression induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, as when ARF1 is deactivated. Its activity is stimulated by phosphoinosides and inhibited by phosphatidylcholine (By similarity). ARFGAP1 is phosphorylated by LRRK2 NA Endocytosis;XBP1(S) activates chaperone genes;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;Clathrin-mediated endocytosis PE1 20 +NX_Q8N6T7 NAD-dependent protein deacetylase sirtuin-6 355 39119 9.31 0 Nucleoplasm NA NAD-dependent protein deacetylase. Has deacetylase activity towards histone H3K9Ac and H3K56Ac. Modulates acetylation of histone H3 in telomeric chromatin during the S-phase of the cell cycle. Deacetylates histone H3K9Ac at NF-kappa-B target promoters and may down-regulate the expression of a subset of NF-kappa-B target genes. Acts as a corepressor of the transcription factor HIF1A to control the expression of multiple glycolytic genes to regulate glucose homeostasis. Required for genomic stability. Regulates the production of TNF protein. Has a role in the regulation of life span (By similarity). Deacetylation of nucleosomes interferes with RELA binding to target DNA. May be required for the association of WRN with telomeres during S-phase and for normal telomere maintenance. Required for genomic stability. Required for normal IGF1 serum levels and normal glucose homeostasis. Modulates cellular senescence and apoptosis. On DNA damage, promotes DNA end resection via deacetylation of RBBP8. Has very weak deacetylase activity and can bind NAD(+) in the absence of acetylated substrate. NA Belongs to the sirtuin family. Class IV subfamily. Pre-NOTCH Transcription and Translation;Processing of DNA double-strand break ends PE1 19 +NX_Q8N6U2 Putative uncharacterized protein encoded by LINC00612 182 18370 11.05 0 NA NA NA NA NA NA PE5 12 +NX_Q8N6U8 G-protein coupled receptor 161 529 58559 8.56 7 Cilium membrane;Nucleoplasm;Nucleolus;Cell membrane NA Key negative regulator of Shh signaling, which promotes the processing of GLI3 into GLI3R during neural tube development. Recruited by TULP3 and the IFT-A complex to primary cilia and acts as a regulator of the PKA-dependent basal repression machinery in Shh signaling by increasing cAMP levels, leading to promote the PKA-dependent processing of GLI3 into GLI3R and repress the Shh signaling. In presence of SHH, it is removed from primary cilia and is internalized into recycling endosomes, preventing its activity and allowing activation of the Shh signaling. Its ligand is unknown (By similarity). NA Belongs to the G-protein coupled receptor 1 family. Hedgehog 'on' state;Hedgehog 'off' state PE1 1 +NX_Q8N6V4 UPF0728 protein C10orf53 93 10399 5.02 0 NA NA NA NA Belongs to the UPF0728 family. NA PE1 10 +NX_Q8N6V9 Testis-expressed protein 9 391 44826 6.21 0 Cytosol;Cell membrane NA NA NA NA NA PE1 15 +NX_Q8N6W0 CUGBP Elav-like family member 5 485 52355 8.57 0 Cytoplasm;Nucleus NA RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA. NA Belongs to the CELF/BRUNOL family. NA PE1 19 +NX_Q8N6Y0 Usher syndrome type-1C protein-binding protein 1 703 76068 5.58 0 NA NA NA NA Belongs to the MCC family. NA PE1 19 +NX_Q8N6Y1 Protocadherin-20 951 104919 4.91 1 Cytoplasmic vesicle;Cell membrane;Cytoskeleton NA Potential calcium-dependent cell-adhesion protein. NA NA NA PE1 13 +NX_Q8N6Y2 Leucine-rich repeat-containing protein 17 441 51800 8.5 0 Cytoplasmic vesicle;Extracellular space;Cytoskeleton NA Involved in bone homeostasis. Acts as a negative regulator of RANKL-induced osteoclast precursor differentiation from bone marrow precursors (By similarity). NA NA NA PE1 7 +NX_Q8N715 Coiled-coil domain-containing protein 185 623 72349 10.13 0 NA NA NA NA NA NA PE1 1 +NX_Q8N720 Zinc finger protein 655 491 57407 6.7 0 Nucleoplasm;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_Q8N726 Tumor suppressor ARF 132 13903 12.41 0 Nucleoplasm;Mitochondrion;Nucleolus NA Capable of inducing cell cycle arrest in G1 and G2 phases. Acts as a tumor suppressor. Binds to MDM2 and blocks its nucleocytoplasmic shuttling by sequestering it in the nucleolus. This inhibits the oncogenic action of MDM2 by blocking MDM2-induced degradation of p53 and enhancing p53-dependent transactivation and apoptosis. Also induces G2 arrest and apoptosis in a p53-independent manner by preventing the activation of cyclin B1/CDC2 complexes. Binds to BCL6 and down-regulates BCL6-induced transcriptional repression. Binds to E2F1 and MYC and blocks their transcriptional activator activity but has no effect on MYC transcriptional repression. Binds to TOP1/TOPOI and stimulates its activity. This complex binds to rRNA gene promoters and may play a role in rRNA transcription and/or maturation. Interacts with NPM1/B23 and promotes its polyubiquitination and degradation, thus inhibiting rRNA processing. Interacts with COMMD1 and promotes its 'Lys63'-linked polyubiquitination. Interacts with UBE2I/UBC9 and enhances sumoylation of a number of its binding partners including MDM2 and E2F1. Binds to HUWE1 and represses its ubiquitin ligase activity. May play a role in controlling cell proliferation and apoptosis during mammary gland development.;May be involved in regulation of autophagy and caspase-independent cell death; the short-lived mitochondrial isoform is stabilized by C1QBP. Ubiquitinated in normal cells by TRIP12 via the ubiquitin fusion degradation (UFD) pathway, a process that mediates ubiquitination at the N-terminus, regardless of the absence of lysine residues. Ubiquitination leads to its proteasomal degradation. In cancer cells, however, TRIP12 is located in a different cell compartment, preventing ubiquitination and degradation. NA Cell cycle;p53 signaling pathway;HTLV-I infection;Pathways in cancer;Pancreatic cancer;Glioma;Melanoma;Bladder cancer;Chronic myeloid leukemia;Non-small cell lung cancer;SUMOylation of DNA damage response and repair proteins;Oxidative Stress Induced Senescence;Oncogene Induced Senescence;Stabilization of p53;Regulation of TP53 Degradation;SUMOylation of transcription factors;Regulation of RUNX3 expression and activity PE1 9 +NX_Q8N729 Neuropeptide W 165 18048 11.62 0 Secreted NA Plays a regulatory role in the organization of neuroendocrine signals accessing the anterior pituitary gland. Stimulates water drinking and food intake. May play a role in the hypothalamic response to stress (By similarity). NPW23 activates GPR7 and GPR8 more efficiently than NPW30. NA Belongs to the neuropeptide B/W family. G alpha (i) signalling events;Peptide ligand-binding receptors PE1 16 +NX_Q8N743 Killer cell immunoglobulin-like receptor 3DL3 410 44928 7.27 1 Cell membrane NA Receptor on natural killer cells. May inhibit the activity of NK cells thus preventing cell lysis. NA Belongs to the immunoglobulin superfamily. Antigen processing and presentation PE1 19 +NX_Q8N752 Casein kinase I isoform alpha-like 337 39086 9.48 0 Cytoplasm NA Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling (By similarity). NA Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. Casein kinase I subfamily. Wnt signaling pathway;Hedgehog signaling pathway PE1 13 +NX_Q8N755 Solute carrier family 66 member 3 202 22575 9.14 4 Membrane;Cytosol NA NA NA NA NA PE1 2 +NX_Q8N766 ER membrane protein complex subunit 1 993 111759 7.38 1 Membrane Cerebellar atrophy, visual impairment, and psychomotor retardation NA NA Belongs to the EMC1 family. NA PE1 1 +NX_Q8N769 Uncharacterized protein C14orf178 122 13377 5.55 0 NA NA NA NA NA NA PE2 14 +NX_Q8N782 Zinc finger protein 525 197 23070 8.98 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q8N7A1 Kelch domain-containing protein 1 406 46720 5.67 0 Cytoplasm;Cytosol NA NA NA NA NA PE2 14 +NX_Q8N7B1 HORMA domain-containing protein 2 307 35284 6.86 0 Nucleus;Chromosome NA Essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes. Required for the DNA double-strand break-independent, BRCA1-dependent activation of ATR on the sex chromosomes that is essential for normal sex body formation (By similarity). Phosphorylated in a SPO11-dependent manner. NA NA PE1 22 +NX_Q8N7B6 PACRG-like protein 248 27152 9.71 0 Cytoplasmic vesicle;Nucleoplasm NA NA NA NA NA PE1 4 +NX_Q8N7B9 EF-hand calcium-binding domain-containing protein 3 438 50147 9.31 0 NA NA NA NA NA NA PE1 17 +NX_Q8N7C0 Leucine-rich repeat-containing protein 52 313 35126 5.44 1 Cell membrane NA Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel's voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium. KCNU1 channel auxiliary protein. May modulate KCNU1 gating properties. N-glycosylated. NA NA PE1 1 +NX_Q8N7C3 Probable E3 ubiquitin-protein ligase TRIML2 387 43983 5.52 0 Cytosol;Cell membrane NA NA NA NA Protein modification; protein ubiquitination. PE1 4 +NX_Q8N7C4 Transmembrane protein 217 229 26582 9.33 4 Membrane;Nucleolus NA NA NA NA NA PE1 6 +NX_Q8N7C7 RING finger protein 148 305 34397 8.49 1 Membrane NA NA NA NA NA PE1 7 +NX_Q8N7E2 E3 ubiquitin-protein ligase CBLL2 425 48785 9.57 0 Cytoplasm NA E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (PubMed:20657603). May operate on tyrosine-phosphorylated SRC substrates (PubMed:22252131). NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 X +NX_Q8N7F7 Ubiquitin-like protein 4B 174 19909 5.63 0 Cytoplasm NA NA NA NA NA PE1 1 +NX_Q8N7G0 POU domain, class 5, transcription factor 2 328 36051 10.11 0 Nucleoplasm;Nucleus NA Transcription factor that binds preferentially to the octamer motif (5'-ATGTTAAT-3'). May exert a regulatory function in meiotic events that are required for terminal differentiation of male germ cell (By similarity). NA Belongs to the POU transcription factor family. Class-5 subfamily. NA PE1 5 +NX_Q8N7H1 Putative uncharacterized protein encoded by LINC01465 131 13435 11.32 0 NA NA NA NA NA NA PE2 12 +NX_Q8N7H5 RNA polymerase II-associated factor 1 homolog 531 59976 4.53 0 Nucleoplasm;Nucleus NA Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Connects PAF1C with the RNF20/40 E3 ubiquitin-protein ligase complex. Involved in polyadenylation of mRNA precursors. Has oncogenic activity in vivo and in vitro. NA Belongs to the PAF1 family. Formation of RNA Pol II elongation complex;RNA Polymerase II Pre-transcription Events;RNA Polymerase II Transcription Elongation;E3 ubiquitin ligases ubiquitinate target proteins PE1 19 +NX_Q8N7I0 Protein GVQW1 195 21479 8.73 0 NA NA NA NA NA NA PE2 9 +NX_Q8N7J2 APC membrane recruitment protein 2 671 69507 6.55 0 Cell membrane NA Negative regulator of the canonical Wnt signaling pathway involved in neuroectodermal patterning. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex. NA Belongs to the Amer family. NA PE1 13 +NX_Q8N7K0 Zinc finger protein 433 673 77243 9.38 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8N7L0 Protein FAM216B 139 16362 11.54 0 NA NA NA NA Belongs to the FAM216 family. NA PE1 13 +NX_Q8N7M0 Tctex1 domain-containing protein 1 179 20730 9.04 0 NA NA NA NA Belongs to the dynein light chain Tctex-type family. Intraflagellar transport PE1 1 +NX_Q8N7M2 Zinc finger protein 283 679 77942 8.62 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q8N7N1 Putative protein N-methyltransferase FAM86B1 296 32865 6 0 NA NA NA NA Belongs to the class I-like SAM-binding methyltransferase superfamily. EEF2KMT family. NA PE2 8 +NX_Q8N7P1 Inactive phospholipase D5 536 61312 8.93 1 Membrane;Cytoplasmic vesicle;Cytosol;Mitochondrion NA NA NA Belongs to the phospholipase D family. NA PE1 1 +NX_Q8N7P3 Claudin-22 220 24509 5.7 4 Tight junction;Cell membrane NA Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. NA Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE2 4 +NX_Q8N7P7 Uncharacterized protein FLJ40521 452 48314 10.01 0 NA NA NA NA NA NA PE2 8 +NX_Q8N7Q2 Putative uncharacterized protein CELF2-AS1 184 20470 9.22 0 Secreted NA NA NA NA NA PE5 10 +NX_Q8N7Q3 Zinc finger protein 676 588 67624 9.1 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 19 +NX_Q8N7R0 Putative homeobox protein NANOG2 232 26880 9.08 0 Nucleus NA Probable transcriptional regulator. NA Belongs to the Nanog homeobox family. NA PE5 12 +NX_Q8N7R1 POM121-like protein 12 296 31848 9.32 0 NA NA NA NA Belongs to the POM121 family. NA PE1 7 +NX_Q8N7R7 Cyclin-Y-like protein 1 359 40705 5.7 0 Cell membrane NA NA NA Belongs to the cyclin family. Cyclin Y subfamily. NA PE1 2 +NX_Q8N7S2 DnaJ homolog subfamily C member 5G 189 21433 7.92 0 Membrane NA NA Palmitoylated. NA Protein processing in endoplasmic reticulum PE2 2 +NX_Q8N7S6 Uncharacterized protein ARIH2OS 290 30424 11.74 1 Membrane NA NA NA NA NA PE2 3 +NX_Q8N7U6 EF-hand domain-containing family member B 833 93802 7.51 0 Cytoplasm;Nucleolus NA Cytosolic sensor for calcium, modulates the interaction of STIM1 and ORAI1 upon store depletion, the activation of store-operated Ca(2+) entry (SOCE) and NFAT translocation from cytosol to nucleus. NA NA NA PE1 3 +NX_Q8N7U7 Tetra-peptide repeat homeobox protein 1 411 40603 10 0 Nucleus NA NA NA NA NA PE2 19 +NX_Q8N7U9 Putative uncharacterized protein encoded by LINC00469 141 15976 5.8 0 NA NA NA NA NA NA PE5 17 +NX_Q8N7W2 BEN domain-containing protein 7 519 57549 9.26 0 Nucleoplasm;Nucleolus;Cytoplasmic vesicle NA NA NA NA NA PE1 10 +NX_Q8N7X0 Androglobin 1667 189713 8.49 0 Nucleoplasm;Mitochondrion NA NA NA Belongs to the peptidase C2 family. NA PE1 6 +NX_Q8N7X1 RNA-binding motif protein, X-linked-like-3 1067 114938 9.19 0 NA NA NA NA NA NA PE1 X +NX_Q8N7X2 Protein STPG3 386 42496 10.01 0 Cytoplasmic vesicle NA NA NA NA NA PE1 9 +NX_Q8N7X4 Melanoma-associated antigen B6 407 43992 5.39 0 NA NA NA NA NA NA PE1 X +NX_Q8N7X8 SIGLEC family-like protein 1 197 21283 9.59 1 Membrane NA NA NA NA NA PE2 19 +NX_Q8N7Y1 Putative uncharacterized protein KIRREL3-AS3 241 25772 10.92 0 NA NA NA NA NA NA PE5 11 +NX_Q8N7Z2 Golgin subfamily A member 6-like protein 1 668 83069 5.25 0 NA NA NA NA Belongs to the GOLGA6 family. NA PE2 15 +NX_Q8N7Z5 Ankyrin repeat domain-containing protein 31 1873 210816 5.82 0 Nucleus;Chromosome NA Required for DNA double-strand breaks (DSBs) formation during meiotic recombination. Regulates the spatial and temporal patterns of pre-DSB recombinosome assembly and recombination activity by acting as a scaffold that anchors REC114 and other factors to specific genomic locations, thereby regulating DSB formation. Plays a key role in recombination in the pseudoautosomal regions of sex chromosomes. NA NA NA PE1 5 +NX_Q8N801 Protein STPG4 248 27807 9.61 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Maternal factor that plays a role in epigenetic chromatin reprogramming during early development of the zygote. Involved in the regulation of gametic DNA demethylation by inducing the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC). NA NA NA PE1 2 +NX_Q8N806 Putative E3 ubiquitin-protein ligase UBR7 425 47999 4.7 0 Nucleoplasm NA E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. NA NA Protein modification; protein ubiquitination. PE1 14 +NX_Q8N807 Protein disulfide-isomerase-like protein of the testis 584 66657 6.41 0 Endoplasmic reticulum NA Probable redox-inactive chaperone involved in spermatogenesis. N-glycosylated. Belongs to the protein disulfide isomerase family. NA PE1 16 +NX_Q8N808 Solute carrier family 35 member G3 338 35381 6.63 9 Membrane NA NA NA Belongs to the SLC35G solute transporter family. NA PE2 17 +NX_Q8N812 Uncharacterized protein C12orf76 135 14959 6.63 0 Cytoskeleton;Cell membrane NA NA NA NA NA PE2 12 +NX_Q8N813 Putative uncharacterized protein C3orf56 242 26007 8.48 0 NA NA NA NA NA NA PE2 3 +NX_Q8N814 Putative uncharacterized protein FLJ40140 137 14437 5.26 0 NA NA NA NA NA NA PE5 7 +NX_Q8N815 Cyclin N-terminal domain-containing protein 1 330 36921 6.46 0 Nucleoplasm;Focal adhesion;Cell membrane NA NA NA NA NA PE2 17 +NX_Q8N816 Transmembrane protein 99 258 27975 6.33 3 Membrane NA NA NA NA NA PE2 17 +NX_Q8N819 Probable protein phosphatase 1N 430 46170 6.21 0 Cytoplasmic vesicle NA NA NA Belongs to the PP2C family. NA PE2 19 +NX_Q8N823 Zinc finger protein 611 705 81449 9.16 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8N831 Testis-specific Y-encoded-like protein 6 410 45874 5.45 0 Nucleoplasm;Cytosol;Nucleolus NA NA NA Belongs to the nucleosome assembly protein (NAP) family. NA PE1 2 +NX_Q8N841 Tubulin polyglutamylase TTLL6 843 96401 9.03 0 Cytoplasmic vesicle;Cilium;Cilium basal body;Cytoskeleton NA Polyglutamylase which preferentially modifies alpha-tubulin. Mediates tubulin polyglutamylation in cilia. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step. Generates long side-chains. Generates polyglutamylation of CGAS, leading to impair the DNA-binding activity of CGAS. NA Belongs to the tubulin--tyrosine ligase family. Carboxyterminal post-translational modifications of tubulin PE1 17 +NX_Q8N859 Zinc finger protein 713 430 50172 6.51 0 Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_Q8N865 Uncharacterized protein C7orf31 590 68464 6.9 0 Nucleoplasm;Centrosome;Mitochondrion NA NA NA NA NA PE1 7 +NX_Q8N878 FERM domain-containing protein 1 549 62523 8.52 0 Cytoskeleton NA NA NA NA NA PE2 6 +NX_Q8N883 Zinc finger protein 614 585 67215 9.25 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytosol NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8N884 Cyclic GMP-AMP synthase 522 58814 9.54 0 Cytosol;Centriolar satellite;Nucleus;Cell membrane NA Nucleotidyltransferase that catalyzes the formation of cyclic GMP-AMP (cGAMP) from ATP and GTP and plays a key role in innate immunity (PubMed:23258413, PubMed:23707061, PubMed:23722159, PubMed:24077100, PubMed:25131990, PubMed:29976794, PubMed:30799039). Catalysis involves both the formation of a 2',5' phosphodiester linkage at the GpA step and the formation of a 3',5' phosphodiester linkage at the ApG step, producing c[G(2',5')pA(3',5')p] (PubMed:28363908, PubMed:28214358). Acts as a key cytosolic DNA sensor, the presence of double-stranded DNA (dsDNA) in the cytoplasm being a danger signal that triggers the immune responses (PubMed:28363908). Binds cytosolic DNA directly, leading to activation and synthesis of cGAMP, a second messenger that binds to and activates TMEM173/STING, thereby triggering type-I interferon production (PubMed:28363908, PubMed:28314590). Preferentially recognizes and binds curved long DNAs (PubMed:30007416). In contrast to other mammals, human CGAS displays species-specific mechanisms of DNA recognition and produces less cyclic GMP-AMP (cGAMP), allowing a more fine-tuned response to pathogens (PubMed:30007416). Has antiviral activity by sensing the presence of dsDNA from DNA viruses in the cytoplasm (PubMed:28363908). Also acts as an innate immune sensor of infection by retroviruses, such as HIV-1, by detecting the presence of reverse-transcribed DNA in the cytosol (PubMed:23929945). Detection of retroviral reverse-transcribed DNA in the cytosol may be indirect and be mediated via interaction with PQBP1, which directly binds reverse-transcribed retroviral DNA (PubMed:26046437). Also detects the presence of DNA from bacteria, such as M.tuberculosis (PubMed:26048138). CGAMP can be transferred from producing cells to neighboring cells through gap junctions, leading to promote TMEM173/STING activation and convey immune response to connecting cells (PubMed:24077100). CGAMP can also be transferred between cells by virtue of packaging within viral particles contributing to IFN-induction in newly infected cells in a cGAS-independent but TMEM173/STING-dependent manner (PubMed:26229115). In addition to antiviral activity, also involved in the response to cellular stresses, such as senescence, DNA damage or genome instability (PubMed:28738408, PubMed:28759889). Acts as a regulator of cellular senescence by binding to cytosolic chromatin fragments that are present in senescent cells, leading to trigger type-I interferon production via TMEM173/STING and promote cellular senescence (By similarity). Also involved in the inflammatory response to genome instability and double-stranded DNA breaks: acts by localizing to micronuclei arising from genome instability (PubMed:28738408, PubMed:28759889). Micronuclei, which as frequently found in cancer cells, consist of chromatin surrounded by its own nuclear membrane: following breakdown of the micronuclear envelope, a process associated with chromothripsis, CGAS binds self-DNA exposed to the cytosol, leading to cGAMP synthesis and subsequent activation of TMEM173/STING and type-I interferon production (PubMed:28738408, PubMed:28759889). Acts as a suppressor of DNA repair in response to DNA damage: translocates to the nucleus following dephosphorylation at Tyr-215 and inhibits homologous recombination repair by interacting with PARP1, the CGAS-PARP1 interaction leading to impede the formation of the PARP1-TIMELESS complex (PubMed:30356214). (Microbial infection) Deamidated on 'Asn-210' by herpes simplex virus 1 protein UL37. This modification significantly reduces CGAS-dependent cGAMP production and innate immune signaling induced by dsDNA.;Phosphorylation at Tyr-215 by BLK promotes cytosolic retention (PubMed:30356214). Translocates into the nucleus following dephosphorylation at Tyr-215 (PubMed:30356214).;Polyglutamylated by TTLL6 at Glu-286, leading to impair DNA-binding activity. Monoglutamylated at Glu-314 by TTLL4, leading to impair the nucleotidyltransferase activity. Deglutamylated by AGBL5/CCP5 and AGBL6/CCP6.;Cleaved by CASP1 at Asp-140 and Asp-157 upon DNA virus infection; the cleavage impairs cGAMP production (PubMed:28314590). Also cleaved by the pyroptotic CASP4 and CASP5 during non-canonical inflammasome activation; they don't cut at the same sites than CASP1 (PubMed:28314590).;Acetylation at Lys-384, Lys-394 and Lys-414 inhibits the cyclic GMP-AMP synthase activity (PubMed:30799039). Deacetylated upon cytosolic DNA challenge such as viral infections (PubMed:30799039). Acetylation can be mediated by aspirin (acetylsalicylate) drug, which directly acetylates CGAS (PubMed:30799039). Acetylation by aspirin efficiently inhibits CGAS-mediated immune responses and is able to suppress self-DNA-induced autoimmunity (PubMed:30799039). Belongs to the mab-21 family. STING mediated induction of host immune responses PE1 6 +NX_Q8N888 Putative BCoR-like protein 2 145 16258 9.12 0 NA NA NA NA Belongs to the BCOR family. NA PE5 Y +NX_Q8N895 Zinc finger protein 366 744 85107 8.88 0 Nucleus NA Has transcriptional repression activity. Acts as corepressor of ESR1; the function seems to involve CTBP1 and histone deacetylases. NA NA NA PE1 5 +NX_Q8N8A2 Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B 993 107603 5.85 0 Nucleus speckle;Mitochondrion NA Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates. NA NA NA PE1 2 +NX_Q8N8A6 ATP-dependent RNA helicase DDX51 666 72457 8.43 0 Nucleoplasm;Cytosol;Nucleolus NA ATP-binding RNA helicase involved in the biogenesis of 60S ribosomal subunits. NA Belongs to the DEAD box helicase family. DDX51/DBP6 subfamily. NA PE1 12 +NX_Q8N8A8 Protein FAM169B 192 21411 5.58 0 NA NA NA NA Belongs to the FAM169 family. NA PE2 15 +NX_Q8N8B7 Transcription elongation factor A N-terminal and central domain-containing protein 351 40245 8.86 0 Nucleus speckle NA NA NA NA NA PE1 X +NX_Q8N8C0 Zinc finger protein 781 355 41526 10.4 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE2 19 +NX_Q8N8D1 Programmed cell death protein 7 485 54700 9.97 0 Nucleus;Nucleolus;Cell membrane NA Promotes apoptosis when overexpressed. NA NA mRNA Splicing - Minor Pathway PE1 15 +NX_Q8N8D7 Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3 197 22620 5.41 4 Cell membrane NA NA NA Belongs to the NKAIN family. NA PE2 8 +NX_Q8N8D9 Uncharacterized protein C5orf56 126 14652 6.77 0 NA NA NA NA NA NA PE2 5 +NX_Q8N8E1 Putative uncharacterized protein encoded by MAPKAPK5-AS1 139 13175 11.41 0 NA NA NA NA NA NA PE5 12 +NX_Q8N8E2 Zinc finger protein 513 541 57882 7.49 0 Nucleus Retinitis pigmentosa 58 Transcriptional regulator that plays a role in retinal development and maintenance. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 2 +NX_Q8N8E3 Centrosomal protein of 112 kDa 955 112749 6.25 0 Golgi apparatus;Nucleoplasm;Centrosome NA NA NA NA NA PE1 17 +NX_Q8N8F6 Protein YIPF7 280 30632 4.76 5 trans-Golgi network membrane;Endoplasmic reticulum membrane;cis-Golgi network membrane NA NA NA Belongs to the YIP1 family. NA PE1 4 +NX_Q8N8F7 Leucine-rich single-pass membrane protein 1 131 14462 5.22 1 Membrane;Cytosol NA NA NA NA NA PE1 7 +NX_Q8N8G2 Transcription cofactor vestigial-like protein 2 317 33426 6.33 0 Nucleus NA May act as a specific coactivator for the mammalian TEFs. May play a role in the development of skeletal muscles. NA Belongs to the vestigial family. NA PE1 6 +NX_Q8N8G6 Putative uncharacterized protein C15orf54 183 21040 9.87 0 NA NA NA NA NA NA PE2 15 +NX_Q8N8H1 Putative protein ZNF321 164 18964 6.49 0 Nucleoplasm NA NA NA NA NA PE5 19 +NX_Q8N8I0 Sterile alpha motif domain-containing protein 12 201 22907 9.4 0 Golgi apparatus;Cytosol Epilepsy, familial adult myoclonic, 1 NA NA NA NA PE1 8 +NX_Q8N8I6 Putative uncharacterized protein encoded by LINC00482 264 28326 11.2 0 NA NA NA NA NA NA PE5 17 +NX_Q8N8J0 Putative inactive phosphatidylinositol 4-kinase alpha-like protein P1 262 29179 6.83 0 NA NA NA NA Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily. NA PE5 22 +NX_Q8N8J6 Zinc finger protein 615 731 83739 9.35 0 Nucleolus;Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8N8J7 Uncharacterized protein FAM241A 132 14653 4.6 1 Membrane;Golgi apparatus NA NA NA Belongs to the FAM241 family. NA PE1 4 +NX_Q8N8K9 Uncharacterized protein KIAA1958 716 79212 6.38 0 Cytosol;Cell membrane NA NA NA NA NA PE1 9 +NX_Q8N8L2 Zinc finger protein 491 437 50950 9.45 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE2 19 +NX_Q8N8L6 ADP-ribosylation factor-like protein 10 244 27459 4.58 0 NA NA NA NA Belongs to the small GTPase superfamily. Arf family. NA PE1 5 +NX_Q8N8M0 Probable N-acetyltransferase 16 369 40521 6.49 0 Nucleoplasm NA Probable N-acetyltransferase. Shows only trace activity toward L-His and no N-acetyltransferase activity toward other amino acids. The physiological substrate of this enzyme is unknown. NA NA NA PE1 7 +NX_Q8N8N0 E3 ubiquitin-protein ligase RNF152 203 22357 8.2 1 Lysosome membrane NA E3 ubiquitin-protein ligase mediating 'Lys-63'-linked polyubiquitination of RRAGA in response to amino acid starvation. Thereby, regulates mTORC1 signaling and plays a role in the cellular response to amino acid availability (PubMed:25936802). Also mediates 'Lys-48'-linked polyubiquitination of target proteins and their subsequent targeting to the proteasome for degradation. Induces apoptosis when overexpressed (PubMed:21203937). Ubiquitinated. Autoubiquitinated in vitro, leading to its degradation by the proteasome (Probable). Belongs to the RNF152 family. Protein modification; protein ubiquitination.;E3 ubiquitin ligases ubiquitinate target proteins PE1 18 +NX_Q8N8N7 Prostaglandin reductase 2 351 38499 5.27 0 Cytoplasmic vesicle;Cytoplasm NA Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-keto-PGE1, 15-keto-PGE2, 15-keto-PGE1-alpha and 15-keto-PGE2-alpha with highest activity towards 15-keto-PGE2. Overexpression represses transcriptional activity of PPARG and inhibits adipocyte differentiation (By similarity). NA Belongs to the NADP-dependent oxidoreductase L4BD family. Synthesis of Prostaglandins (PG) and Thromboxanes (TX) PE1 14 +NX_Q8N8P6 Putative uncharacterized protein FLJ39060 123 13896 9.36 0 NA NA NA NA NA NA PE2 X +NX_Q8N8P7 Uncharacterized protein C11orf44 122 13691 5.58 0 Secreted NA NA NA NA NA PE2 11 +NX_Q8N8Q1 Cytochrome b561 domain-containing protein 1 229 25424 10.02 6 Membrane NA NA NA NA NA PE2 1 +NX_Q8N8Q3 Endonuclease V 282 30792 8.34 0 Cytoplasm;Nucleolus NA Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3' to inosine. Has strong preference for single-stranded RNAs (ssRNAs) toward double-stranded RNAs (dsRNAs). Cleaves mRNAs and tRNAs containing inosine. Also able to cleave structure-specific dsRNA substrates containing the specific sites 5'-IIUI-3' and 5'-UIUU-3'. Inosine is present in a number of RNAs following editing; the function of inosine-specific endoribonuclease is still unclear: it could either play a regulatory role in edited RNAs, or be involved in antiviral response by removing the hyperedited long viral dsRNA genome that has undergone A-to-I editing. Binds branched DNA structures. NA Belongs to the endonuclease V family. NA PE1 17 +NX_Q8N8Q8 Cytochrome c oxidase assembly protein COX18, mitochondrial 333 37063 9.86 3 Mitochondrion inner membrane NA Mitochondrial membrane insertase required for the translocation of the C-terminus of cytochrome c oxidase subunit II (MT-CO2/COX2) across the mitochondrial inner membrane. Plays a role in MT-CO2/COX2 maturation following the COX20-mediated stabilization of newly synthesized MT-CO2/COX2 protein and before the action of the metallochaperones SCO1/2. Essential for the assembly and stability of the mitochondrial respiratory chain complex IV (also known as cytochrome c oxidase). NA Belongs to the OXA1/ALB3/YidC family. Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 4 +NX_Q8N8Q9 Magnesium transporter NIPA2 360 39185 8.46 9 Golgi apparatus;Early endosome;Cell membrane NA Acts as a selective Mg(2+) transporter. NA Belongs to the NIPA family. Miscellaneous transport and binding events PE1 15 +NX_Q8N8R3 Mitochondrial basic amino acids transporter 303 32062 9.03 6 Mitochondrion inner membrane NA Transports arginine, lysine, homoarginine, methylarginine and, to a much lesser extent, ornithine and histidine (PubMed:24652292). Can restore ornithine transport in cells lacking the primary mitochondrial ornithine transporter SLC25A15 (PubMed:19287344). Does not transport carnitine nor acylcarnitines (PubMed:24652292). Functions by both counter-exchange and uniport mechanisms (PubMed:24652292). NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Amino acid transport across the plasma membrane PE1 14 +NX_Q8N8R5 UPF0565 protein C2orf69 385 43448 8.31 0 Secreted NA NA NA Belongs to the UPF0565 family. NA PE1 2 +NX_Q8N8R7 ARL14 effector protein 260 29338 8.42 0 Cytoplasm;Focal adhesion;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA Through its interaction with ARL14 and MYO1E, may connect MHC class II-containing cytoplasmic vesicles to the actin network and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells. NA NA NA PE1 11 +NX_Q8N8S7 Protein enabled homolog 591 66510 6.51 0 Cytoplasm;Cell membrane;Focal adhesion;Lamellipodium;Filopodium;Synapse;Cytosol;Cytoskeleton NA Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells. ENAH induces the formation of F-actin rich outgrowths in fibroblasts. Acts synergistically with BAIAP2-alpha and downstream of NTN1 to promote filipodia formation (By similarity). NTN1-induced PKA phosphorylation on Ser-265 directly parallels the formation of filopodial protrusions. Belongs to the Ena/VASP family. Regulation of actin cytoskeleton;Generation of second messenger molecules;Signaling by ROBO receptors PE1 1 +NX_Q8N8U2 Chromodomain Y-like protein 2 506 56500 8.99 0 Nucleus NA NA NA NA NA PE1 16 +NX_Q8N8U3 Retrotransposon Gag-like protein 3 475 52817 4.43 0 Golgi apparatus;Nucleoplasm;Nucleus;Cell membrane NA May function as a transcriptional regulator. Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal. NA NA NA PE2 X +NX_Q8N8U9 BMP-binding endothelial regulator protein 685 75997 8.18 0 Secreted Diaphanospondylodysostosis Inhibitor of bone morphogenetic protein (BMP) function, it may regulate BMP responsiveness of osteoblasts and chondrocytes. NA NA NA PE1 7 +NX_Q8N8V2 Guanylate-binding protein 7 638 72513 5.72 0 Membrane NA Hydrolyzes GTP to GMP in two consecutive cleavage reactions. Promote oxidative killing and deliver antimicrobial peptides to autophagolysosomes, providing broad host protection against different pathogen classes (By similarity). NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily. Interferon gamma signaling PE1 1 +NX_Q8N8V4 Ankyrin repeat and SAM domain-containing protein 4B 417 46597 4.99 0 Nucleoplasm;Cytosol;Microvillus NA As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. Plays a role in assembly of the complex (PubMed:26812018). May play a role in cellular response to endoplasmic reticulum stress (By similarity). NA NA NA PE1 16 +NX_Q8N8V8 Transmembrane protein 105 129 13990 11.62 2 Membrane NA NA NA NA NA PE2 17 +NX_Q8N8W4 Patatin-like phospholipase domain-containing protein 1 532 57875 8.35 0 Cytoplasm;Cytoskeleton Ichthyosis, congenital, autosomal recessive 10 Lipid hydrolase. Important in the formation of the epidermal lipid barrier. Plays a role in glycerophospholipid metabolism. NA NA NA PE1 6 +NX_Q8N8X9 Protein mab-21-like 3 362 42357 8.84 0 Nucleoplasm NA NA NA Belongs to the mab-21 family. NA PE1 1 +NX_Q8N8Y2 V-type proton ATPase subunit d 2 350 40426 5.18 0 Cytoplasmic vesicle NA Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity). NA Belongs to the V-ATPase V0D/AC39 subunit family. Oxidative phosphorylation;Metabolic pathways;Lysosome;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Tuberculosis;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE1 8 +NX_Q8N8Y5 Zinc finger protein 41 homolog 198 22806 9.46 0 Nucleoplasm;Nucleus;Nucleolus;Cell membrane NA A putative DNA-binding regulatory protein associated with meiosis in spermatogenesis. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 8 +NX_Q8N8Z3 Proline-rich protein 26 221 24207 11.22 0 NA NA NA NA NA NA PE2 10 +NX_Q8N8Z6 Discoidin, CUB and LCCL domain-containing protein 1 715 77920 8.26 1 Membrane;Cytosol NA NA NA NA NA PE1 6 +NX_Q8N8Z8 Zinc finger protein 441 693 80136 8.82 0 Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8N907 DAN domain family member 5 189 20180 9.89 0 Mitochondrion;Secreted NA Seems to play a role in the correct specification of the left-right axis. May antagonize NODAL and BMP4 signaling. Cystine knot-containing proteins play important roles during development, organogenesis, tissue growth and differentiation (By similarity). NA Belongs to the DAN family. Signaling by NODAL;Regulation of signaling by NODAL PE1 19 +NX_Q8N910 Putative uncharacterized protein C15orf56 161 17040 11.89 0 NA NA NA NA NA NA PE2 15 +NX_Q8N912 Nutritionally-regulated adipose and cardiac enriched protein homolog 160 18051 11.21 1 Cell membrane NA NA NA NA NA PE2 14 +NX_Q8N944 APC membrane recruitment protein 3 861 90445 5.48 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane (By similarity). NA Belongs to the Amer family. NA PE1 2 +NX_Q8N945 PRELI domain-containing protein 2 189 21905 8.98 0 Nucleoplasm NA NA NA NA NA PE1 5 +NX_Q8N954 G patch domain-containing protein 11 285 33277 5.68 0 Nucleoplasm;Kinetochore NA NA NA Belongs to the GPATCH11 family. NA PE1 2 +NX_Q8N957 Ankyrin repeat and fibronectin type-III domain-containing protein 1 763 87604 8.69 0 NA NA NA NA NA NA PE1 17 +NX_Q8N960 Centrosomal protein of 120 kDa 986 112640 5.9 0 Cytosol;Centrosome;Cytoskeleton Short-rib thoracic dysplasia 13 with or without polydactyly;Joubert syndrome 31 Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis (By similarity). Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865). NA Belongs to the CEP120 family. NA PE1 5 +NX_Q8N961 Ankyrin repeat and BTB/POZ domain-containing protein 2 1025 113656 5.87 0 Nucleoplasm NA May be involved in the initiation of hepatocyte growth. NA NA NA PE1 11 +NX_Q8N966 Palmitoyltransferase ZDHHC22 263 29100 9.5 2 Membrane;Cell membrane NA Palmitoyltransferase that mediates palmitoylation of KCNMA1, regulating localization of KCNMA1 to the plasma membrane (PubMed:22399288). Might also mediate palmitoylation of CNN3 (By similarity). NA Belongs to the DHHC palmitoyltransferase family. NA PE1 14 +NX_Q8N967 Leucine-rich repeat and transmembrane domain-containing protein 2 370 41158 8.17 1 Membrane;Cytosol NA NA NA NA NA PE1 12 +NX_Q8N972 Zinc finger protein 709 641 74652 9.22 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8N976 Putative uncharacterized protein FLJ38264 141 14881 6.53 0 NA NA NA NA NA NA PE5 7 +NX_Q8N983 39S ribosomal protein L43, mitochondrial 215 23431 8.97 0 Nucleoplasm;Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mL43 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 10 +NX_Q8N987 N-terminal EF-hand calcium-binding protein 1 351 40571 4.83 0 Nucleoplasm;Cytoplasm;Cytosol NA NA NA NA NA PE1 8 +NX_Q8N988 Zinc finger protein 557 423 48627 9.22 0 Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8N998 Coiled-coil domain-containing protein 89 374 43809 5.33 0 Nucleoplasm;Cytoplasm;Nucleus NA NA NA Belongs to the CCDC89 family. NA PE1 11 +NX_Q8N999 Uncharacterized protein C12orf29 325 37490 6.6 0 Cytoplasm;Cytoplasmic vesicle NA NA NA NA NA PE1 12 +NX_Q8N9A8 Nuclear envelope phosphatase-regulatory subunit 1 125 14267 8.71 2 Cytoplasm;Cytosol;Nucleus membrane NA Forms with the serine/threonine protein phosphatase CTDNEP1 an active complex which dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglycerol and control the metabolism of fatty acids at different levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplets and triacylglycerol. NA Belongs to the CNEP1R1 family. Depolymerisation of the Nuclear Lamina PE1 16 +NX_Q8N9B4 Ankyrin repeat domain-containing protein 42 389 43052 6.01 0 Nucleoplasm;Cytosol;Cell membrane NA NA NA NA NA PE1 11 +NX_Q8N9B5 Junction-mediating and -regulatory protein 988 111445 5.88 0 Nucleoplasm;Nucleus;Cytoskeleton NA Acts both as a nuclear p53/TP53-cofactor and a cytoplasmic regulator of actin dynamics depending on conditions. In nucleus, acts as a cofactor that increases p53/TP53 response via its interaction with p300/EP300. Increases p53/TP53-dependent transcription and apoptosis, suggesting an important role in p53/TP53 stress response such as DNA damage. In cytoplasm, acts as a nucleation-promoting factor for both branched and unbranched actin filaments. Activates the Arp2/3 complex to induce branched actin filament networks. Also catalyzes actin polymerization in the absence of Arp2/3, creating unbranched filaments. Contributes to cell motility by controlling actin dynamics. May promote the rapid formation of a branched actin network by first nucleating new mother filaments and then activating Arp2/3 to branch off these filaments. The p53/TP53-cofactor and actin activator activities are regulated via its subcellular location (By similarity). Ubiquitinated by MDM2, leading to its subsequent degradation by the proteasome. In case of DNA damage, the interaction with MDM2 is altered, preventing degradation and allowing interaction with p300/EP300 and its function in p53/TP53 stress response (By similarity). Belongs to the JMY family. Regulation of TP53 Activity through Methylation PE1 5 +NX_Q8N9B8 Ras-GEF domain-containing family member 1A 481 54556 7.6 0 Golgi apparatus NA Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, KRAS, HRAS, and NRAS (in vitro). Plays a role in cell migration. NA NA RAF/MAP kinase cascade PE1 10 +NX_Q8N9C0 Immunoglobulin superfamily member 22 903 100400 6.7 0 NA NA NA NA NA NA PE2 11 +NX_Q8N9E0 Protein FAM133A 248 28941 10.1 0 NA NA NA NA Belongs to the FAM133 family. NA PE1 X +NX_Q8N9F0 N-acetylaspartate synthetase 302 32837 9.05 1 Microsome membrane;Cytoplasm;Mitochondrion;Membrane;Rough endoplasmic reticulum membrane;Mitochondrion membrane N-acetylaspartate deficiency Plays a role in the regulation of lipogenesis by producing N-acetylaspartate acid (NAA), a brain-specific metabolite. NAA occurs in high concentration in brain and its hydrolysis plays a significant part in the maintenance of intact white matter. Promotes dopamine uptake by regulating TNF-alpha expression. Attenuates methamphetamine-induced inhibition of dopamine uptake. NA Belongs to the camello family. Aspartate and asparagine metabolism PE1 4 +NX_Q8N9F7 Lysophospholipase D GDPD1 314 36167 8.66 2 Membrane;Cytoplasm;Perinuclear region NA Hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and the corresponding amines. Shows a preference for 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF), lysophosphatidylethanolamine (lyso-PE) and lysophosphatidylcholine (lyso-PC). May be involved in bioactive N-acylethanolamine biosynthesis. Does not display glycerophosphodiester phosphodiesterase activity, since it cannot hydrolyze either glycerophosphoinositol or glycerophosphocholine. NA Belongs to the glycerophosphoryl diester phosphodiesterase family. Glycerophospholipid catabolism PE1 17 +NX_Q8N9F8 Zinc finger protein 454 522 60008 8.96 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 5 +NX_Q8N9G6 Putative UPF0607 protein FLJ37424 341 37462 10.42 0 NA NA NA NA Belongs to the UPF0607 family. NA PE2 10 +NX_Q8N9H6 Putative uncharacterized protein C8orf31 132 14527 9.23 0 NA NA NA NA NA NA PE5 8 +NX_Q8N9H8 Exonuclease mut-7 homolog 876 96598 8.6 0 Focal adhesion;Cytoskeleton NA Possesses 3'-5' exoribonuclease activity. Required for 3'-end trimming of AGO1-bound miRNAs (By similarity). NA Belongs to the mut-7 family. NA PE1 9 +NX_Q8N9H9 Uncharacterized protein C1orf127 656 69787 5.32 0 NA NA NA NA NA NA PE2 1 +NX_Q8N9I0 Synaptotagmin-2 419 46872 8.18 1 Synaptic vesicle membrane;Chromaffin granule membrane Myasthenic syndrome, congenital, 7, presynaptic Exhibits calcium-dependent phospholipid and inositol polyphosphate binding properties (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003). NA Belongs to the synaptotagmin family. Toxicity of botulinum toxin type B (BoNT/B);Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Neurexins and neuroligins PE1 1 +NX_Q8N9I5 Fatty acid desaturase 6 356 40447 8.13 6 Membrane NA NA NA Belongs to the fatty acid desaturase type 1 family. Lipid metabolism; fatty acid metabolism. PE2 17 +NX_Q8N9I9 Probable E3 ubiquitin-protein ligase DTX3 347 37988 9.02 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Nucleolus NA Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Probably acts both as a positive and negative regulator of Notch, depending on the developmental and cell context (By similarity). Functions as an ubiquitin ligase protein in vitro, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity. NA Belongs to the Deltex family. Protein modification; protein ubiquitination.;Notch signaling pathway PE1 12 +NX_Q8N9K5 Zinc finger protein 565 539 62445 8.58 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8N9L1 Zinc finger protein ZIC 4 334 36567 9.61 0 Nucleoplasm;Cytosol;Nucleus NA Binds to DNA. NA Belongs to the GLI C2H2-type zinc-finger protein family. NA PE1 3 +NX_Q8N9L7 Putative uncharacterized protein FLJ36925 120 13535 9.8 0 NA NA NA NA NA NA PE5 22 +NX_Q8N9L9 Peroxisomal succinyl-coenzyme A thioesterase 421 46327 8.31 0 Peroxisome NA Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH (PubMed:16940157). ACOT4 is a peroxisomal succinyl-coenzyme A thioesterase can also hydrolyze glutaryl-CoA and long chain saturated acyl-CoAs (PubMed:16940157). NA Belongs to the C/M/P thioester hydrolase family. Lipid metabolism; fatty acid biosynthesis.;Fatty acid elongation;Biosynthesis of unsaturated fatty acids;Beta-oxidation of very long chain fatty acids;Peroxisomal protein import PE1 14 +NX_Q8N9M1 Uncharacterized protein C19orf47 422 44746 10.12 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 19 +NX_Q8N9M5 Transmembrane protein 102 508 54175 5.59 1 Cytoplasmic vesicle;Cell membrane NA Selectively involved in CSF2 deprivation-induced apoptosis via a mitochondria-dependent pathway. NA NA NA PE1 17 +NX_Q8N9N2 Activating signal cointegrator 1 complex subunit 1 400 45509 5.36 0 Nucleoplasm;Cytosol;Nucleus speckle;Nucleus Barrett esophagus;Spinal muscular atrophy with congenital bone fractures 2 Plays a role in DNA damage repair as component of the ASCC complex (PubMed:29997253). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). In cells responding to gastrin-activated paracrine signals, it is involved in the induction of SERPINB2 expression by gastrin. May also play a role in the development of neuromuscular junction. NA NA ALKBH3 mediated reversal of alkylation damage PE1 10 +NX_Q8N9N5 Protein BANP 519 56494 5.27 0 Nucleoplasm;Nucleus NA Controls V(D)J recombination during T-cell development by repressing T-cell receptor (TCR) beta enhancer function. Binds to scaffold/matrix attachment region beta (S/MARbeta), an ATC-rich DNA sequence located upstream of the TCR beta enhancer. Represses cyclin D1 transcription by recruiting HDAC1 to its promoter, thereby diminishing H3K9ac, H3S10ph and H4K8ac levels. Promotes TP53 'Ser-15' phosphorylation and nuclear accumulation, which causes cell cycle arrest (By similarity). NA Belongs to the BANP/SMAR1 family. Regulation of TP53 Activity through Association with Co-factors PE1 16 +NX_Q8N9N7 Leucine-rich repeat-containing protein 57 239 26754 8.7 0 Membrane;Cytosol;Mitochondrion NA NA NA NA NA PE1 15 +NX_Q8N9N8 Probable RNA-binding protein EIF1AD 165 19053 5.14 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Plays a role into cellular response to oxidative stress. Decreases cell proliferation. NA Belongs to the EIF1AD family. NA PE1 11 +NX_Q8N9P0 Putative uncharacterized protein FLJ36797 234 25159 11.75 0 NA NA NA NA NA NA PE5 6 +NX_Q8N9P6 Uncharacterized protein C9orf163 203 22154 11.66 0 NA NA NA NA NA NA PE2 9 +NX_Q8N9Q2 Protein SREK1IP1 155 18177 9.86 0 Nucleoplasm;Nucleolus NA Possible splicing regulator involved in the control of cellular survival. NA NA NA PE1 5 +NX_Q8N9R0 Putative uncharacterized protein encoded by LINC00304 145 15610 11.42 0 NA NA NA NA NA NA PE5 16 +NX_Q8N9R6 CMT1A duplicated region transcript 4 protein 152 17643 9.96 0 Mitochondrion NA NA NA NA NA PE1 17 +NX_Q8N9R8 Protein SCAI 606 70399 8.78 1 Cytoplasm;Nucleus membrane;Membrane;Nucleoplasm;Nucleus NA Tumor suppressor which functions to suppress MRTFA-induced SRF transcriptional activity. May function in the RHOA-DIAPH1 signal transduction pathway and regulate cell migration through transcriptional regulation of ITGB1. NA Belongs to the SCAI family. RHO GTPases Activate Formins PE1 9 +NX_Q8N9S9 Sorting nexin-31 440 50802 6.62 0 Nucleoplasm;Golgi apparatus;Cytosol NA May be involved in protein trafficking. NA Belongs to the sorting nexin family. NA PE1 8 +NX_Q8N9T2 Putative uncharacterized protein CXorf42 125 14163 9.29 0 NA NA NA NA NA NA PE5 X +NX_Q8N9T8 Protein KRI1 homolog 703 82598 5.06 0 Nucleolus NA NA NA Belongs to the KRI1 family. NA PE1 19 +NX_Q8N9U0 Tandem C2 domains nuclear protein 490 55284 9.29 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 14 +NX_Q8N9U9 Putative uncharacterized protein SPANXA2-OT1 137 13254 12.18 0 NA NA NA NA NA NA PE5 X +NX_Q8N9V2 Probable E3 ubiquitin-protein ligase TRIML1 468 53002 5.36 0 NA NA Probable E3 ubiquitin-protein ligase which plays an important role in blastocyst development. NA NA Protein modification; protein ubiquitination. PE1 4 +NX_Q8N9V3 WD repeat, SAM and U-box domain-containing protein 1 476 52817 5.93 0 Nucleoplasm;Cytosol;Nucleolus NA NA NA NA NA PE1 2 +NX_Q8N9V6 Ankyrin repeat domain-containing protein 53 530 59571 9.58 0 Spindle pole;Spindle NA Required for normal progression through mitosis. Involved in chromosome alignment and cytokinesis via regulation of microtubules polymerization. Phosphorylated during mitosis (PubMed:26820536). NA NA PE1 2 +NX_Q8N9V7 Protein TOPAZ1 1692 190927 8.16 0 Cytosol NA Important for normal spermatogenesis and male fertility. Specifically required for progression to the post-meiotic stages of spermatocyte development. Seems to be necessary for normal expression levels of a number of testis-expressed gene transcripts, although its role in this process is unclear. NA NA NA PE1 3 +NX_Q8N9W4 Golgin subfamily A member 6-like protein 2 909 100610 4.63 0 NA NA NA NA Belongs to the GOLGA6 family. NA PE1 15 +NX_Q8N9W5 Dynein assembly factor 3, axonemal 541 59410 5.66 0 Cytoplasm;Mitochondrion;Nucleus Ciliary dyskinesia, primary, 2 Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia. NA Belongs to the DNAAF3 family. NA PE1 19 +NX_Q8N9W6 Protein boule-like 283 31301 6.59 0 Cytoplasm NA Probable RNA-binding protein, which may be required during spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation (By similarity). NA Belongs to the RRM DAZ family. NA PE1 2 +NX_Q8N9W7 Putative transmembrane protein FLJ36131 124 13731 8.96 1 Membrane NA NA NA NA NA PE5 15 +NX_Q8N9W8 Protein FAM71D 422 47076 5.6 0 NA NA NA NA Belongs to the FAM71 family. NA PE1 14 +NX_Q8N9X3 Putative uncharacterized protein encoded by LINC01356 169 18887 11.31 0 NA NA NA NA NA NA PE5 1 +NX_Q8N9X5 Putative transmembrane protein 75 138 15361 8.88 2 Membrane;Cytoplasm;Cell membrane NA NA NA NA NA PE5 8 +NX_Q8N9Y4 Protein FAM181A 354 38724 9.75 0 NA NA NA NA Belongs to the FAM181 family. NA PE1 14 +NX_Q8N9Z0 Zinc finger protein 610 462 53489 9.36 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8N9Z2 Coiled-coil domain-containing protein 71L 235 26261 11.71 0 Golgi apparatus;Cytosol;Cytoskeleton NA NA NA NA NA PE1 7 +NX_Q8N9Z9 Lamin tail domain-containing protein 1 388 43408 9.18 0 Nucleoplasm;Centrosome NA NA NA Belongs to the intermediate filament family. NA PE1 12 +NX_Q8NA03 Fibrous sheath-interacting protein 1 581 66121 5.08 0 Nucleoplasm NA NA NA Belongs to the FSIP1 family. NA PE1 15 +NX_Q8NA19 Lethal(3)malignant brain tumor-like protein 4 623 71122 7.11 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility (By similarity). NA NA NA PE1 18 +NX_Q8NA23 WD repeat-containing protein 31 367 40840 8.65 0 Cytosol;Nucleus NA NA NA NA NA PE1 9 +NX_Q8NA29 Sodium-dependent lysophosphatidylcholine symporter 1 543 60170 6.51 11 Cytosol;Endoplasmic reticulum membrane;Cell membrane Microcephaly 15, primary, autosomal recessive Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function (By similarity). Specifically expressed in endothelium of the blood-brain barrier of micro-vessels and transports LPC into the brain (By similarity). Transport of LPC is essential because it constitutes the major mechanism by which docosahexaenoic acid (DHA), an omega-3 fatty acid that is essential for normal brain growth and cognitive function, enters the brain (PubMed:26005868). Transports LPC carrying long-chain fatty acids such LPC oleate and LPC palmitate with a minimum acyl chain length of 14 carbons (By similarity). Does not transport docosahexaenoic acid in unesterified fatty acid (By similarity). Specifically required for blood-brain barrier formation and function, probably by mediating lipid transport (By similarity). Not required for central nervous system vascular morphogenesis (By similarity). Acts as a transporter for tunicamycin, an inhibitor of asparagine-linked glycosylation (PubMed:21677192). In placenta, acts as a receptor for ERVFRD-1/syncytin-2 and is required for trophoblast fusion (PubMed:18988732, PubMed:23177091). N-glycosylated. Belongs to the major facilitator superfamily. Synthesis of PC PE1 1 +NX_Q8NA31 Telomere repeats-binding bouquet formation protein 1 727 83064 7.29 0 Nucleus inner membrane;Telomere NA Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the MAJIN-TERB1-TERB2 complex, TERB1 probably mediates association with the shelterin/telosome complex via interaction with TERF1, promoting priming telomeric DNA attachment'. Promotes telomere association with the nuclear envelope and deposition of the SUN-KASH/LINC complex. Also recruits cohesin to telomeres to develop structural rigidity. Phosphorylated by CDK. Phosphorylation by CDK takes place in late prophase when the cap exchange is prominent. Is important for the stabilization of telomere attachment but dispenable for the cap exchange. Belongs to the TERB1 family. NA PE1 16 +NX_Q8NA42 Zinc finger protein 383 475 54613 8.21 0 Nucleoplasm;Cytoplasm;Nucleus membrane;Nucleus NA May function as a transcriptional repressor, suppressing transcriptional activities mediated by MAPK signaling pathways. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8NA47 Coiled-coil domain-containing protein 63 563 66250 9.08 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Plays a role in spermiogenesis. Involved in the elongation of flagella and the formation of sperm heads. NA NA NA PE1 12 +NX_Q8NA54 IQ and ubiquitin-like domain-containing protein 791 92581 6.21 0 Cytosol;Nucleus speckle;Cytoskeleton NA May play roles in cilia formation and/or maintenance. NA NA NA PE1 7 +NX_Q8NA56 Tetratricopeptide repeat protein 29 475 55082 5.5 0 NA NA NA NA NA NA PE1 4 +NX_Q8NA57 Uncharacterized protein C12orf50 414 47326 8.79 0 NA NA NA NA NA NA PE1 12 +NX_Q8NA58 Poly(A)-specific ribonuclease PNLDC1 520 60124 8.82 1 Endoplasmic reticulum membrane NA 3'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails (PubMed:27515512). Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs and is also used to silence certain maternal mRNAs translationally during oocyte maturation and early embryonic development (PubMed:27515512). May act as a regulator of multipotency in embryonic stem cells (By similarity). NA Belongs to the CAF1 family. NA PE1 6 +NX_Q8NA61 Spermatid-associated protein 448 51570 6.7 0 Cell junction;Cell membrane NA NA NA Belongs to the chibby family. SPERT subfamily. NA PE1 13 +NX_Q8NA66 Cyclic nucleotide-binding domain-containing protein 1 436 50224 9.15 0 NA NA NA NA NA NA PE1 8 +NX_Q8NA69 Testis-expressed protein 45 505 57331 9.04 0 NA NA NA NA NA NA PE1 19 +NX_Q8NA70 Protein FAM47B 645 73945 8.96 0 NA NA NA NA Belongs to the FAM47 family. NA PE1 X +NX_Q8NA72 Centrosomal protein POC5 575 63351 6.97 0 Nucleoplasm;Centrosome;Centriole NA Essential for the assembly of the distal half of centrioles, required for centriole elongation. Hyperphosphorylated during recruitment to procentrioles in G2/M phase. Belongs to the POC5 family. NA PE1 5 +NX_Q8NA75 DDB1- and CUL4-associated factor 4-like protein 2 395 43747 8.85 0 NA NA NA NA NA NA PE1 8 +NX_Q8NA77 Testis-expressed protein 19 164 18469 3.85 0 Cytoplasm NA Required during spermatogenesis and placenta development, participating in the repression of retrotransposable elements and prevent their mobilization. Collaborates with the Piwi-interacting RNA (piRNA) pathway, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins. Interacts with Piwi proteins and directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. Also during spermatogenesis, promotes, with UBR2, SPO11-dependent recombination foci to accumulate and drive robust homologous chromosome synapsis (By similarity). Interacts with LINE-1 retrotransposon encoded LIRE1, stimulates LIRE1 polyubiquitination, mediated by UBR2, and degradation, inhibiting LINE-1 retranstoposon mobilization (PubMed:28806172). NA NA NA PE1 17 +NX_Q8NA82 Probable E3 ubiquitin-protein ligase MARCH10 808 90511 6.26 0 Cytosol;Cell membrane NA E3 ubiquitin-protein ligase (Probable). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. NA NA Protein modification; protein ubiquitination. PE1 17 +NX_Q8NA92 THAP domain-containing protein 8 274 30082 10.24 0 Nucleoplasm NA NA NA NA NA PE1 19 +NX_Q8NA96 Putative uncharacterized protein FLJ35723 180 19635 8.97 0 NA NA NA NA NA NA PE5 5 +NX_Q8NA97 Putative uncharacterized protein FER1L6-AS1 138 15156 8.17 0 NA NA NA NA NA NA PE2 8 +NX_Q8NAA4 Autophagy-related protein 16-2 619 68998 9.2 0 Cytoplasm;Nucleoplasm NA May play a role in autophagy. NA Belongs to the WD repeat ATG16 family. NA PE1 11 +NX_Q8NAA5 Leucine-rich repeat-containing protein 75A 344 37780 8.66 0 Nucleoplasm;Cytosol;Nucleolus NA NA NA Belongs to the LRRC75 family. NA PE1 17 +NX_Q8NAA6 Putative uncharacterized protein encoded by LINC02694 179 19737 9.93 0 NA NA NA NA NA NA PE5 15 +NX_Q8NAB2 Kelch repeat and BTB domain-containing protein 3 612 69839 5.18 0 NA NA NA NA NA NA PE1 11 +NX_Q8NAC3 Interleukin-17 receptor C 791 86240 5.73 1 Cell membrane Candidiasis, familial, 9 Does not bind IL17A or IL17F.;Receptor for both IL17A and IL17F.;Receptor for IL17A and IL17F homodimers as part of a heterodimeric complex with IL17RA (PubMed:16785495). Receptor for the heterodimer formed by IL17A and IL17B as part of a heterodimeric complex with IL17RA (PubMed:18684971). Has also been shown to be the cognate receptor for IL17F and to bind IL17A with high affinity without the need for IL17RA (PubMed:17911633). Activation of IL17RC leads to induction of expression of inflammatory chemokines and cytokines such as CXCL1 (PubMed:16785495).;Receptor for both IL17A and IL17F.;Does not bind IL17A or IL17F. NA NA Interleukin-17 signaling PE1 3 +NX_Q8NAE3 Putative uncharacterized protein encoded by LINC01555 123 13125 6.11 0 NA NA NA NA NA NA PE2 1 +NX_Q8NAF0 Zinc finger protein 579 562 60509 9.07 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q8NAG6 Ankyrin repeat and LEM domain-containing protein 1 615 66890 5.98 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Endonuclease that probably plays a role in the DNA damage response and DNA repair. NA NA NA PE1 19 +NX_Q8NAJ2 Putative uncharacterized protein C9orf106 232 25113 8.89 0 NA NA NA NA NA NA PE2 9 +NX_Q8NAM6 Zinc finger and SCAN domain-containing protein 4 433 48957 6.47 0 Telomere;Nucleus NA Embryonic stem (ES) cell-specific transcription factor required to regulate ES cell pluripotency. Binds telomeres and plays a key role in genomic stability in ES cells by regulating telomere elongation. Acts as an activator of spontaneous telomere sister chromatid exchange (T-SCE) and telomere elongation in undifferentiated ES cells (By similarity). NA NA NA PE1 19 +NX_Q8NAN2 Mitoguardin 1 632 71006 5.42 1 Mitochondrion outer membrane;Mitochondrion NA Regulator of mitochondrial fusion: acts by forming homo- and heterodimers at the mitochondrial outer membrane and facilitating the formation of PLD6/MitoPLD dimers. May act by regulating phospholipid metabolism via PLD6/MitoPLD. NA Belongs to the mitoguardin family. Synthesis of PA PE1 1 +NX_Q8NAP1 Putative protein CASTOR 3 163 17846 8.78 0 NA NA NA NA Belongs to the GATS family. NA PE5 7 +NX_Q8NAP3 Zinc finger and BTB domain-containing protein 38 1195 134257 8.34 0 Nucleoplasm;Nucleus;Chromosome NA Transcriptional regulator with bimodal DNA-binding specificity. Binds with a higher affinity to methylated CpG dinucleotides in the consensus sequence 5'-CGCG-3' but can also bind to E-box elements (5'-CACGTG-3'). Can also bind specifically to a single methyl-CpG pair. Represses transcription in a methyl-CpG-dependent manner (PubMed:16354688). Plays an important role in regulating DNA replication and common fragile sites (CFS) stability in a RBBP6- and MCM10-dependent manner; represses expression of MCM10 which plays an important role in DNA-replication (PubMed:24726359). Acts as a transcriptional activator. May be involved in the differentiation and/or survival of late postmitotic neurons (By similarity). Ubiquitinated by RBBP6; leading to its degradation by the proteasome. NA NA PE1 3 +NX_Q8NAP8 Zinc finger and BTB domain-containing protein 8B 495 54175 4.98 0 Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 1 +NX_Q8NAQ8 Putative uncharacterized protein FLJ34945 132 14168 11.48 0 NA NA NA NA NA NA PE2 16 +NX_Q8NAS9 Putative uncharacterized protein C5orf17 161 17397 4.87 0 NA NA NA NA NA NA PE5 5 +NX_Q8NAT1 Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 580 66615 8.81 1 Endoplasmic reticulum membrane Muscular dystrophy-dystroglycanopathy limb-girdle C8;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8 O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that transfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. NA Belongs to the glycosyltransferase 61 family. Protein modification; protein glycosylation.;O-linked glycosylation PE1 3 +NX_Q8NAT2 Tudor domain-containing protein 5 981 109737 8.31 0 Cytoplasm NA Required during spermiogenesis to participate in the repression transposable elements and prevent their mobilization, which is essential for the germline integrity. Probably acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Required for chromatoid body (CB) assembly (By similarity). NA Belongs to the TDRD5 family. NA PE1 1 +NX_Q8NAU1 Fibronectin type III domain-containing protein 5 212 23659 6.91 1 Peroxisome membrane;Secreted;Cell membrane NA Irisin: Contrary to mouse, may not be involved in the beneficial effects of muscular exercise, nor in the induction of browning of human white adipose tissue. N-Glycosylated.;The extracellular domain is cleaved and released from the cell membrane. NA NA PE1 1 +NX_Q8NAV1 Pre-mRNA-splicing factor 38A 312 37477 9.97 0 Nucleoplasm;Nucleus NA Involved in pre-mRNA splicing as a component of the spliceosome. NA Belongs to the PRP38 family. Spliceosome;mRNA Splicing - Major Pathway PE1 1 +NX_Q8NAV2 Uncharacterized protein C8orf58 365 39661 8.52 0 Nucleus NA NA NA NA NA PE2 8 +NX_Q8NAX2 Keratinocyte differentiation factor 1 398 43642 6.1 0 Nucleoplasm;Spindle;Cell junction;Cytoplasm Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type Plays a role in the regulation of the epidermis formation during early development. Required both as an inhibitor of basal cell proliferation and a promoter of differentiation of basal progenitor cell progeny (By similarity). NA NA NA PE1 1 +NX_Q8NB12 Histone-lysine N-methyltransferase SMYD1 490 56617 6.66 0 Cytoplasm;Nucleus NA Methylates histone H3 at 'Lys-4' (H3K4me), seems able to perform both mono-, di-, and trimethylation. Acts as a transcriptional repressor. Essential for cardiomyocyte differentiation and cardiac morphogenesis. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. NA PE1 2 +NX_Q8NB14 Ubiquitin carboxyl-terminal hydrolase 38 1042 116546 5.82 0 Nucleoplasm;Cytosol;Centrosome NA Deubiquitinating enzyme exhibiting a preference towards 'Lys-63'-linked ubiquitin chains. NA Belongs to the peptidase C19 family. NA PE1 4 +NX_Q8NB15 Zinc finger protein 511 252 28265 7.6 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 10 +NX_Q8NB16 Mixed lineage kinase domain-like protein 471 54479 9 0 Cytoplasm;Cell membrane NA Pseudokinase that plays a key role in TNF-induced necroptosis, a programmed cell death process. Activated following phosphorylation by RIPK3, leading to homotrimerization, localization to the plasma membrane and execution of programmed necrosis characterized by calcium influx and plasma membrane damage. Does not have protein kinase activity (PubMed:22265413, PubMed:22265414, PubMed:22421439, PubMed:24316671). Binds to highly phosphorylated inositol phosphates such as inositolhexakisphosphate (InsP6) which is essential for its necroptotic function (PubMed:29883610). Phosphorylation by RIPK3 induces a conformational switch that is required for necroptosis. It also induces homotrimerization and localization to the plasma membrane. Belongs to the protein kinase superfamily. TRP channels;RIPK1-mediated regulated necrosis PE1 16 +NX_Q8NB25 Protein FAM184A 1140 132965 5.59 0 Golgi apparatus;Nucleoplasm;Cytosol NA NA NA Belongs to the FAM184 family. NA PE1 6 +NX_Q8NB37 Glutamine amidotransferase-like class 1 domain-containing protein 1 220 23298 6.14 0 Nucleoplasm;Secreted NA NA NA Belongs to the peptidase C56 family. NA PE1 11 +NX_Q8NB42 Zinc finger protein 527 609 70902 8.35 0 Golgi apparatus;Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q8NB46 Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C 1076 115077 6.01 0 Nucleoplasm;Mitochondrion NA Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates. NA NA NA PE1 12 +NX_Q8NB49 Phospholipid-transporting ATPase IG 1132 129477 6.25 10 Endoplasmic reticulum membrane;Cell membrane Hemolytic anemia, congenital, X-linked Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. In the cell membrane of erythrocytes, it is required to maintain phosphatidylserine (PS) in the inner leaflet preventing its exposure on the surface. This asymmetric distribution is critical for the survival of erythrocytes in circulation since externalized PS is a phagocytic signal for splenic macrophages (PubMed:26944472). Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (By similarity). Required for B cell differentiation past the pro-B cell stage (By similarity). Seems to mediate PS flipping in pro-B cells (By similarity). May be involved in the transport of cholestatic bile acids (By similarity). NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. Ion transport by P-type ATPases PE1 X +NX_Q8NB50 Zinc finger protein 62 homolog 900 102511 9.24 0 Nucleoplasm;Nucleus;Cytoskeleton NA May play a role in differentiating skeletal muscle. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 5 +NX_Q8NB59 Synaptotagmin-14 555 62287 6.02 1 Membrane;Cytoplasmic vesicle Spinocerebellar ataxia, autosomal recessive, 11 May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent. NA Belongs to the synaptotagmin family. NA PE1 1 +NX_Q8NB66 Protein unc-13 homolog C 2214 250911 5.64 0 Membrane;Cytoplasm;Presynaptic cell membrane NA May play a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. May be involved in the regulation of synaptic transmission at parallel fiber - Purkinje cell synapses (By similarity). NA Belongs to the unc-13 family. Synaptic vesicle cycle PE1 15 +NX_Q8NB78 Lysine-specific histone demethylase 1B 822 92098 8.13 0 Nucleoplasm;Nucleus NA Histone demethylase that demethylates 'Lys-4' of histone H3, a specific tag for epigenetic transcriptional activation, thereby acting as a corepressor. Required for de novo DNA methylation of a subset of imprinted genes during oogenesis. Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed. Demethylates both mono- and di-methylated 'Lys-4' of histone H3. Has no effect on tri-methylated 'Lys-4', mono-, di- or tri-methylated 'Lys-9', mono-, di- or tri-methylated 'Lys-27', mono-, di- or tri-methylated 'Lys-36' of histone H3, or on mono-, di- or tri-methylated 'Lys-20' of histone H4. NA Belongs to the flavin monoamine oxidase family. HDMs demethylate histones;UCH proteinases PE1 6 +NX_Q8NB90 ATPase family protein 2 homolog 893 97904 5.5 0 Cytoplasm;Cytosol;Mitochondrion Epilepsy, hearing loss, and mental retardation syndrome ATP-dependent chaperone which uses the energy provided by ATP hydrolysis to generate mechanical force to disassemble protein complexes. May be involved in morphological and functional mitochondrial transformations during spermatogenesis. NA Belongs to the AAA ATPase family. AFG2 subfamily. Ribosome biogenesis in eukaryotes PE1 4 +NX_Q8NB91 Fanconi anemia group B protein 859 97726 7.79 0 Nucleus Fanconi anemia complementation group B DNA repair protein required for FANCD2 ubiquitination. NA NA Fanconi anemia pathway;Fanconi Anemia Pathway PE1 X +NX_Q8NBA8 DTW domain-containing protein 2 298 33416 8.95 0 Nucleus NA NA NA Belongs to the DTW family. NA PE1 5 +NX_Q8NBB2 Putative uncharacterized protein ST20-AS1 130 13907 11.83 0 NA NA NA NA NA NA PE5 15 +NX_Q8NBB4 Zinc finger and SCAN domain-containing protein 1 408 45286 8.85 0 Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 19 +NX_Q8NBC4 Uncharacterized protein C20orf203 194 21159 11.74 0 Cytoplasm NA NA NA NA NA PE2 20 +NX_Q8NBD8 Transmembrane protein 229B 167 19531 5.68 4 Membrane NA NA NA Belongs to the TMEM229 family. NA PE2 14 +NX_Q8NBE8 Kelch-like protein 23 558 63923 5.4 0 Nucleoplasm;Cytoskeleton NA NA NA NA NA PE1 2 +NX_Q8NBF1 Zinc finger protein GLIS1 620 65976 7.56 0 Nucleus NA Acts as both a repressor and activator of transcription (PubMed:21654807). Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity). By controlling the expression of genes involved in cell differentiation inhibits the lineage commitment of multipotent cells (PubMed:21654807). Prevents, for instance, the differentiation of multipotent mesenchymal cells into adipocyte and osteoblast (By similarity). NA Belongs to the GLI C2H2-type zinc-finger protein family. NA PE1 1 +NX_Q8NBF2 NHL repeat-containing protein 2 726 79444 5.33 0 Nucleoplasm;Cytosol Fibrosis, neurodegeneration, and cerebral angiomatosis Required for normal embryonic development. NA NA Platelet degranulation PE1 10 +NX_Q8NBF4 Putative uncharacterized protein FLJ33307 154 16182 11.26 0 NA NA NA NA NA NA PE5 7 +NX_Q8NBF6 Late secretory pathway protein AVL9 homolog 648 71947 5.79 1 Membrane;Recycling endosome;Endoplasmic reticulum NA Functions in cell migration. NA Belongs to the AVL9 family. NA PE1 7 +NX_Q8NBH2 Kyphoscoliosis peptidase 561 63855 7.1 0 Nucleoplasm;Z line;Cytoskeleton Myopathy, myofibrillar, 7 Probable cytoskeleton-associated protease required for normal muscle growth. Involved in function, maturation and stabilization of the neuromuscular junction. May act by cleaving muscle-specific proteins such as FLNC (By similarity). NA Belongs to the transglutaminase-like superfamily. NA PE1 3 +NX_Q8NBI2 Cytochrome b ascorbate-dependent protein 3 242 27214 9.64 6 Lysosome membrane;Nucleolus;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Late endosome membrane NA Ferric-chelate reductase that reduces Fe(3+) to Fe(2+) before its transport from the endosome to the cytoplasm. Probably uses ascorbate as electron donor (By similarity). N-glycosylated. NA NA PE1 11 +NX_Q8NBI3 Draxin 349 38650 7.62 0 Secreted NA Chemorepulsive axon guidance protein required for the development of spinal cord and forebrain commissures. Acts as a chemorepulsive guidance protein for commissural axons during development. Able to inhibit or repel neurite outgrowth from dorsal spinal cord. Inhibits the stabilization of cytosolic beta-catenin (CTNNB1) via its interaction with LRP6, thereby acting as an antagonist of Wnt signaling pathway. NA Belongs to the draxin family. NA PE1 1 +NX_Q8NBI5 Solute carrier family 43 member 3 491 54529 8.81 12 Membrane;Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA Putative transporter. NA Belongs to the SLC43A transporter (TC 2.A.1.44) family. NA PE1 11 +NX_Q8NBI6 Xyloside xylosyltransferase 1 393 43807 8.35 1 Endoplasmic reticulum membrane NA Alpha-1,3-xylosyltransferase, which elongates the O-linked xylose-glucose disaccharide attached to EGF-like repeats in the extracellular domain of target proteins by catalyzing the addition of the second xylose (PubMed:22117070, PubMed:8982869). Known targets include Notch proteins and coagulation factors, such as F9 (PubMed:22117070, PubMed:8982869). NA Belongs to the glycosyltransferase 8 family. NA PE1 3 +NX_Q8NBJ4 Golgi membrane protein 1 401 45333 4.91 1 Golgi apparatus;cis-Golgi network membrane NA Unknown. Cellular response protein to viral infection. Phosphorylation sites are present in the extracellular medium.;Glycosylated. Belongs to the GOLM1/CASC4 family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 9 +NX_Q8NBJ5 Procollagen galactosyltransferase 1 622 71636 6.85 0 Cytoplasmic vesicle;Endoplasmic reticulum lumen Brain small vessel disease 3 Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of type I collagen (PubMed:19075007, PubMed:22216269, PubMed:27402836). By acting on collagen glycosylation, facilitates the formation of collagen triple helix (PubMed:27402836). Also involved in the biosynthesis of collagen type IV (PubMed:30412317). N-glycosylated. Belongs to the glycosyltransferase 25 family. Lysine degradation;Other types of O-glycan biosynthesis;Collagen biosynthesis and modifying enzymes PE1 19 +NX_Q8NBJ7 Inactive C-alpha-formylglycine-generating enzyme 2 301 33843 7.78 0 Cytoplasmic vesicle;Endoplasmic reticulum lumen;Cell membrane NA Lacks formylglycine generating activity and is unable to convert newly synthesized inactive sulfatases to their active form. Inhibits the activation of sulfatases by SUMF1. NA Belongs to the sulfatase-modifying factor family. Glycosphingolipid metabolism;The activation of arylsulfatases PE1 7 +NX_Q8NBJ9 SID1 transmembrane family member 2 832 94454 6.55 10 Lysosome membrane;Cell membrane NA Mediates the translocation of RNA and DNA across the lysosomal membrane during RNA and DNA autophagy (RDA), a process in which RNA or DNA is directly imported into lysosomes in an ATP-dependent manner, and degraded (PubMed:27046251, PubMed:27846365). Involved in the uptake of single-stranded oligonucleotides by living cells, a process called gymnosis (PubMed:28277980). Involved in the uptake of single-stranded oligonucleotides by living cells, a process called gymnosis. In vitro, mediates the uptake of linear DNA more efficiently than that of circular DNA, but exhibits similar uptake efficacy toward RNA and DNA. Binds long double-stranded RNA (dsRNA) (500 - 700 base pairs), but not dsRNA shorter than 100 bp (By similarity). Glycosylated. Belongs to the SID1 family. NA PE1 11 +NX_Q8NBK3 Formylglycine-generating enzyme 374 40556 6.18 0 Endoplasmic reticulum lumen Multiple sulfatase deficiency Oxidase that catalyzes the conversion of cysteine to 3-oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:25931126, PubMed:16368756, PubMed:21224894). 3-oxoalanine modification, which is also named formylglycine (fGly), occurs in the maturation of arylsulfatases and some alkaline phosphatases that use the hydrated form of 3-oxoalanine as a catalytic nucleophile (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:25931126, PubMed:16368756). Known substrates include GALNS, ARSA, STS and ARSE (PubMed:12757706, PubMed:15907468, PubMed:15657036). N-glycosylated. Contains high-mannose-type oligosaccharides. Belongs to the sulfatase-modifying factor family. Protein modification; sulfatase oxidation.;Lysosome;Glycosphingolipid metabolism;The activation of arylsulfatases PE1 3 +NX_Q8NBL1 Protein O-glucosyltransferase 1 392 46189 8.91 0 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum lumen Dowling-Degos disease 4;Muscular dystrophy, limb-girdle, autosomal recessive 21 Dual specificity glycosyltransferase that catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to a serine residue found in the consensus sequence of C-X-S-X-P-C (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322). Specifically targets extracellular EGF repeats of protein such as CRB2, F7, F9 and NOTCH2 (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322). Acts as a positive regulator of Notch signaling by mediating O-glucosylation of Notch, leading to regulate muscle development (PubMed:27807076). Notch glucosylation does not affect Notch ligand binding (PubMed:21490058). Required during early development to promote gastrulation: acts by mediating O-glucosylation of CRB2, which is required for CRB2 localization to the cell membrane (By similarity). NA Belongs to the glycosyltransferase 90 family. Protein modification; protein glycosylation.;Other types of O-glycan biosynthesis;Pre-NOTCH Processing in the Endoplasmic Reticulum PE1 3 +NX_Q8NBL3 Transmembrane protein 178A 297 33019 8.83 3 Nucleoplasm;Endoplasmic reticulum membrane;Cytoplasmic vesicle NA Acts as a negative regulator of osteoclast differentiation in basal and inflammatory conditions by regulating TNFSF11-induced Ca (2+) fluxes, thereby controlling the induction of NFATC1. NA Belongs to the TMEM178 family. NA PE1 2 +NX_Q8NBM4 Ubiquitin-associated domain-containing protein 2 344 38964 9.21 3 Cytosol;Endoplasmic reticulum membrane NA Restricts trafficking of FAF2 from the endoplasmic reticulum to lipid droplets (PubMed:23297223). In association with LMBR1L and E3 ubiquitin-protein ligase AMFR, negatively regulates the canonical Wnt signaling pathway in the lymphocytes by promoting the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6 (PubMed:31073040). NA NA NA PE1 13 +NX_Q8NBM8 Prenylcysteine oxidase-like 494 54646 6.81 0 Nucleoplasm;Mitochondrion;Secreted NA Probable oxidoreductase. NA Belongs to the prenylcysteine oxidase family. Platelet degranulation PE1 5 +NX_Q8NBN3 Transmembrane protein 87A 555 63430 6.32 7 Golgi apparatus;Golgi apparatus membrane NA May be involved in retrograde transport from endosomes to the trans-Golgi network (TGN). NA Belongs to the LU7TM family. TMEM87 subfamily. NA PE1 15 +NX_Q8NBN7 Retinol dehydrogenase 13 331 35932 8.23 0 Cytosol;Mitochondrion inner membrane;Mitochondrion NA Retinol dehydrogenase with a clear preference for NADP. Oxidizes all-trans-retinol, but seems to reduce all-trans-retinal with much higher efficiency (PubMed:18039331). Has no activity toward steroids (PubMed:18039331). NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Cofactor metabolism; retinol metabolism.;RA biosynthesis pathway PE1 19 +NX_Q8NBP0 Tetratricopeptide repeat protein 13 860 96813 6.56 0 Nucleoplasm NA NA NA NA NA PE1 1 +NX_Q8NBP5 Major facilitator superfamily domain-containing protein 9 474 50619 9.28 9 Membrane;Nucleolus NA NA NA Belongs to the major facilitator superfamily. NA PE1 2 +NX_Q8NBP7 Proprotein convertase subtilisin/kexin type 9 692 74286 6.14 0 Golgi apparatus;Cytoplasm;Secreted;Cell surface;Endoplasmic reticulum;Endosome;Lysosome Hypercholesterolemia, autosomal dominant, 3 Crucial player in the regulation of plasma cholesterol homeostasis. Binds to low-density lipid receptor family members: low density lipoprotein receptor (LDLR), very low density lipoprotein receptor (VLDLR), apolipoprotein E receptor (LRP1/APOER) and apolipoprotein receptor 2 (LRP8/APOER2), and promotes their degradation in intracellular acidic compartments (PubMed:18039658). Acts via a non-proteolytic mechanism to enhance the degradation of the hepatic LDLR through a clathrin LDLRAP1/ARH-mediated pathway. May prevent the recycling of LDLR from endosomes to the cell surface or direct it to lysosomes for degradation. Can induce ubiquitination of LDLR leading to its subsequent degradation (PubMed:18799458, PubMed:17461796, PubMed:18197702, PubMed:22074827). Inhibits intracellular degradation of APOB via the autophagosome/lysosome pathway in a LDLR-independent manner. Involved in the disposal of non-acetylated intermediates of BACE1 in the early secretory pathway (PubMed:18660751). Inhibits epithelial Na(+) channel (ENaC)-mediated Na(+) absorption by reducing ENaC surface expression primarily by increasing its proteasomal degradation. Regulates neuronal apoptosis via modulation of LRP8/APOER2 levels and related anti-apoptotic signaling pathways. Phosphorylation protects the propeptide against proteolysis.;Cleavage by furin and PCSK5 generates a truncated inactive protein that is unable to induce LDLR degradation.;Undergoes autocatalytic cleavage in the endoplasmic reticulum to release the propeptide from the N-terminus and the cleavage of the propeptide is strictly required for its maturation and activation. The cleaved propeptide however remains associated with the catalytic domain through non-covalent interactions, preventing potential substrates from accessing its active site. As a result, it is secreted from cells as a propeptide-containing, enzymatically inactive protein. Belongs to the peptidase S8 family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);VLDLR internalisation and degradation;Post-translational protein phosphorylation;LDL clearance PE1 1 +NX_Q8NBQ5 Estradiol 17-beta-dehydrogenase 11 300 32936 9.2 0 Endoplasmic reticulum;Lipid droplet NA Can convert androstan-3-alpha,17-beta-diol (3-alpha-diol) to androsterone in vitro, suggesting that it may participate in androgen metabolism during steroidogenesis. May act by metabolizing compounds that stimulate steroid synthesis and/or by generating metabolites that inhibit it. Has no activity toward DHEA (dehydroepiandrosterone), or A-dione (4-androste-3,17-dione), and only a slight activity toward testosterone to A-dione. Tumor-associated antigen in cutaneous T-cell lymphoma. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily. Estrogen biosynthesis PE1 4 +NX_Q8NBQ7 Aquaporin-11 271 30203 8.08 6 Cytoplasmic vesicle membrane;Nucleoplasm;Cytoplasmic vesicle NA Aquaporins facilitate the transport of water and small neutral solutes across cell membranes. NA Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily. Passive transport by Aquaporins PE1 11 +NX_Q8NBR0 Tumor protein p53-inducible protein 13 393 42238 10.97 1 Cytoplasm;Cell membrane NA May act as a tumor suppressor. Inhibits tumor cell growth, when overexpressed. NA NA NA PE1 17 +NX_Q8NBR6 Ubiquitin carboxyl-terminal hydrolase MINDY-2 621 67106 4.44 0 Nucleoplasm NA Hydrolase that can remove 'Lys-48'-linked conjugated ubiquitin from proteins (PubMed:27292798). Binds to polyubiquitin chains of different linkage types, including 'Lys-6', 'Lys-11', 'Lys-29', 'Lys-33', 'Lys-48' and 'Lys-63' (PubMed:28082312). May play a regulatory role at the level of protein turnover (PubMed:27292798). NA Belongs to the MINDY deubiquitinase family. FAM63 subfamily. NA PE1 15 +NX_Q8NBR9 Uncharacterized protein C11orf72 251 27887 9.56 0 NA NA NA NA NA NA PE2 11 +NX_Q8NBS3 Sodium bicarbonate transporter-like protein 11 891 99581 7.59 11 Membrane;Cytoplasmic vesicle;Nucleoplasm;Cell membrane Corneal dystrophy and perceptive deafness;Corneal endothelial dystrophy;Corneal dystrophy, Fuchs endothelial, 4 Transporter which plays an important role in sodium-mediated fluid transport in different organs. Prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In the inner ear, is involved in transport of potassium through the fibrocyte layer to the stria vascularis and is essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph. In the kidney, is essential for urinary concentration, mediates a sodium flux into the thin descending limb of Henle loop to allow countercurrent multiplication by osmotic equilibration (By similarity). Involved in borate homeostasis. In the absence of borate, it functions as a Na(+) and OH(-)(H(+)) channel. In the presence of borate functions as an electrogenic Na(+) coupled borate cotransporter. Glycosylated. Belongs to the anion exchanger (TC 2.A.31) family. NA PE1 20 +NX_Q8NBS9 Thioredoxin domain-containing protein 5 432 47629 5.63 0 Endoplasmic reticulum;Endoplasmic reticulum lumen NA Possesses thioredoxin activity. Has been shown to reduce insulin disulfide bonds. Also complements protein disulfide-isomerase deficiency in yeast (By similarity). NA Belongs to the protein disulfide isomerase family. Protein processing in endoplasmic reticulum;Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis;Neutrophil degranulation PE1 6 +NX_Q8NBT0 POC1 centriolar protein homolog A 407 45009 7.31 0 Spindle pole;Centrosome;Cilium basal body;Centriole Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1B to ensure centriole integrity and proper mitotic spindle formation. NA Belongs to the WD repeat POC1 family. NA PE1 3 +NX_Q8NBT2 Kinetochore protein Spc24 197 22478 4.65 0 Kinetochore;Nucleoplasm;Nucleus;Nucleolus NA Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:14738735). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:14738735). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020). NA Belongs to the SPC24 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 19 +NX_Q8NBT3 Transmembrane protein 145 493 55534 8.88 8 Membrane;Cytoplasmic vesicle NA NA NA NA NA PE1 19 +NX_Q8NBU5 ATPase family AAA domain-containing protein 1 361 40744 6.43 0 Cytoplasm;Mitochondrion;Postsynaptic cell membrane;Nucleolus;Peroxisome Hyperekplexia 4 ATPase that plays a critical role in regulating the surface expression of AMPA receptors (AMPAR), thereby regulating synaptic plasticity and learning and memory. Required for NMDA-stimulated AMPAR internalization and inhibition of GRIA1 and GRIA2 recycling back to the plasma membrane; these activities are ATPase-dependent (By similarity). NA Belongs to the AAA ATPase family. Class I peroxisomal membrane protein import PE1 10 +NX_Q8NBV4 Inactive phospholipid phosphatase 7 271 29448 9.98 4 Endoplasmic reticulum membrane;Membrane;Nucleoplasm;Nucleus envelope;Cytoplasmic vesicle NA Plays a role as negative regulator of myoblast differentiation, in part through effects on MTOR signaling. Has no detectable enzymatic activity (By similarity). NA Belongs to the PA-phosphatase related phosphoesterase family. NA PE1 9 +NX_Q8NBV8 Synaptotagmin-8 401 44138 9.65 1 Cell membrane;Acrosome NA May play a role in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Mediates Ca(2+)-regulation of exocytosis acrosomal reaction in sperm. May mediate Ca(2+)-regulation of exocytosis in insulin secreted cells (By similarity). NA Belongs to the synaptotagmin family. Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 11 +NX_Q8NBW4 Sodium-coupled neutral amino acid transporter 9 561 63776 7.59 11 Cytoplasmic vesicle;Lysosome membrane;Late endosome membrane NA Lysosomal amino acid transporter involved in the activation of mTORC1 in response to amino acid levels. Probably acts as an amino acid sensor of the Rag GTPases and Ragulator complexes, 2 complexes involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids (PubMed:25561175, PubMed:25567906, PubMed:29053970). Following activation by amino acids, the Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. SLC38A9 mediates transport of amino acids with low capacity and specificity with a slight preference for polar amino acids (PubMed:25561175, PubMed:25567906). Acts as an arginine sensor (PubMed:25567906, PubMed:29053970). Following activation by arginine binding, mediates transport of leucine, tyrosine and phenylalanine with high efficiency, and is required for the efficient utilization of these amino acids after lysosomal protein degradation (PubMed:29053970). Glycosylated. Belongs to the amino acid/polyamine transporter 2 family. SLC38A9 subfamily. Macroautophagy;TP53 Regulates Metabolic Genes;Energy dependent regulation of mTOR by LKB1-AMPK;mTOR signalling;mTORC1-mediated signalling;Regulation of PTEN gene transcription PE1 5 +NX_Q8NBX0 Saccharopine dehydrogenase-like oxidoreductase 429 47151 9.24 0 Cytoplasmic vesicle NA NA NA Belongs to the saccharopine dehydrogenase family. Platelet degranulation PE1 1 +NX_Q8NBZ0 INO80 complex subunit E 244 26478 8.41 0 Nucleoplasm;Nucleolus;Nucleus NA Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. NA NA DNA Damage Recognition in GG-NER;UCH proteinases PE1 16 +NX_Q8NBZ7 UDP-glucuronic acid decarboxylase 1 420 47577 8.99 1 Golgi stack membrane NA Catalyzes the NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose. Necessary for the biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis. NA Belongs to the NAD(P)-dependent epimerase/dehydratase family. UDP-glucuronic acid decarboxylase subfamily. Nucleotide-sugar biosynthesis; UDP-alpha-D-xylose biosynthesis; UDP-alpha-D-xylose from UDP-alpha-D-glucuronate: step 1/1.;Starch and sucrose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways PE1 2 +NX_Q8NBZ9 Putative uncharacterized protein NEXN-AS1 246 25156 10.69 0 NA NA NA NA NA NA PE5 1 +NX_Q8NC01 C-type lectin domain family 1 member A 280 31952 5.93 1 Membrane NA NA NA NA NA PE1 12 +NX_Q8NC06 Acyl-CoA-binding domain-containing protein 4 268 30308 6.83 0 Nucleoplasm;Cytoplasmic vesicle NA Binds medium- and long-chain acyl-CoA esters and may function as an intracellular carrier of acyl-CoA esters. NA NA Peroxisomal lipid metabolism PE1 17 +NX_Q8NC24 RELT-like protein 2 303 32405 6.42 1 Cytoplasmic vesicle;Cell membrane NA Induces activation of MAPK14/p38 cascade, when overexpressed (PubMed:28688764). Induces apoptosis, when overexpressed (PubMed:19969290). Phosphorylated in vitro by OXSR1. Belongs to the RELT family. NA PE1 5 +NX_Q8NC26 Zinc finger protein 114 417 47747 8.9 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8NC38 Putative uncharacterized protein ZNF436-AS1 126 14381 9.35 0 NA NA NA NA NA NA PE2 1 +NX_Q8NC42 E3 ubiquitin-protein ligase RNF149 400 43165 6.08 1 Membrane;Cytoplasmic vesicle;Cell membrane NA E3 ubiquitin-protein ligase. Ubiquitinates BRAF, inducing its proteasomal degradation. NA NA Protein modification; protein ubiquitination. PE1 2 +NX_Q8NC44 Reticulophagy regulator 2 543 57830 4.39 3 Membrane;Cytosol NA NA NA Belongs to the RETREG family. NA PE1 2 +NX_Q8NC51 Plasminogen activator inhibitor 1 RNA-binding protein 408 44965 8.66 0 Cytoplasm;Cytosol;Perinuclear region;Nucleus NA May play a role in the regulation of mRNA stability. Binds to the 3'-most 134 nt of the SERPINE1/PAI1 mRNA, a region which confers cyclic nucleotide regulation of message decay. Seems to play a role in PML-nuclear bodies formation (PubMed:28695742). NA NA NA PE1 1 +NX_Q8NC54 Keratinocyte-associated transmembrane protein 2 265 29235 4.93 1 Membrane;Golgi apparatus NA NA NA NA NA PE1 5 +NX_Q8NC56 LEM domain-containing protein 2 503 56975 9.16 2 Nucleus inner membrane;Nucleus membrane Cataract 46, juvenile-onset Required for embryonic development and is involved in regulation of several signaling pathways such as MAPK and AKT. Required for myoblast differentiation involving regulation of ERK signaling (By similarity).;Involved in nuclear structure organization (PubMed:16339967). Required for maintaining the integrity of the nuclear envelope (PubMed:17097643). NA NA Initiation of Nuclear Envelope Reformation;Depolymerisation of the Nuclear Lamina;Nuclear Envelope Breakdown PE1 6 +NX_Q8NC60 Nitric oxide-associated protein 1 698 78458 8.87 0 Mitochondrion inner membrane;Mitochondrion NA Involved in regulation of mitochondrial protein translation and respiration. Plays a role in mitochondria-mediated cell death. May act as a scaffolding protein or stabilizer of respiratory chain supercomplexes. Binds GTP. NA Belongs to the TRAFAC class YlqF/YawG GTPase family. NOA1 subfamily. NA PE1 4 +NX_Q8NC67 Neuropilin and tolloid-like protein 2 525 59393 6.38 1 Membrane;Golgi apparatus NA Accessory subunit of neuronal kainate-sensitive glutamate receptors, GRIK2 and GRIK3. Increases kainate-receptor channel activity, slowing the decay kinetics of the receptors, without affecting their expression at the cell surface, and increasing the open probability of the receptor channels. Modulates the agonist sensitivity of kainate receptors. Slows the decay of kainate receptor-mediated excitatory postsynaptic currents (EPSCs), thus directly influencing synaptic transmission (By similarity). N-glycosylated. NA NA PE1 16 +NX_Q8NC69 BTB/POZ domain-containing protein KCTD6 237 27610 5.61 0 Nucleolus;Mitochondrion;M line NA Probable substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex mediating the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes the ubiquitination of HDAC1; the function seems to depend on KCTD11:KCTD6 oligomerization. Can function as antagonist of the Hedgehog pathway by affecting the nuclear transfer of transcription factor GLI1; the function probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. Inhibits cell growth and tumorigenicity of medulloblastoma (MDB) (PubMed:21472142). Involved in regulating protein levels of ANK1 isoform Mu17 probably implicating CUL3-dependent proteasomal degradation (PubMed:22573887). NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation;RUNX1 regulates estrogen receptor mediated transcription;Estrogen-dependent gene expression PE1 3 +NX_Q8NC74 RBBP8 N-terminal-like protein 664 71432 6.08 0 NA NA NA NA NA NA PE1 20 +NX_Q8NC96 Adaptin ear-binding coat-associated protein 1 275 29737 6.33 0 Cytoplasmic vesicle;Cytosol;Clathrin-coated vesicle membrane;Cell membrane Epileptic encephalopathy, early infantile, 21 Involved in endocytosis. NA Belongs to the NECAP family. Golgi Associated Vesicle Biogenesis;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 12 +NX_Q8NCA5 Protein FAM98A 518 55273 9.1 0 Cytoplasmic vesicle NA Positively stimulates PRMT1-induced protein arginine methylation (PubMed:28040436). Involved in skeletal homeostasis (By similarity). Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity). Promotes colorectal cancer cell malignancy (PubMed:28040436). NA Belongs to the FAM98 family. NA PE1 2 +NX_Q8NCA9 Zinc finger protein 784 323 34237 7.95 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q8NCB2 CaM kinase-like vesicle-associated protein 501 54354 5.38 0 Cytoplasm;Cell membrane;Cytoplasmic vesicle membrane;Nucleoplasm;Nucleus;Cytoskeleton NA Does not appear to have detectable kinase activity. NA Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. NA PE1 3 +NX_Q8NCC3 Group XV phospholipase A2 412 46658 6.26 0 Mitochondrion;Secreted;Membrane;Nucleoplasm;Lysosome;Cytoplasmic vesicle NA Has transacylase and calcium-independent phospholipase A2 activity (PubMed:20410020, PubMed:23958596). Catalyzes the formation of 1-O-acyl-N-acetylsphingosine and the concomitant release of a lyso-phospholipid (PubMed:11790796, PubMed:25727495). Has high activity with 1-palmitoyl-2-oleoyl-sn-glycero-3-phosphocholine (POPC) and 1,2-dioleoyl-sn-glycero-3-phosphocholine (DOPC), catalyzing the transfer of oleic acid to N-acetyl-sphingosine. Required for normal phospholipid degradation in alveolar and peritoneal macrophages and in spleen (By similarity). May have weak lysophospholipase activity (PubMed:10092508). N-glycosylated (PubMed:11790796, PubMed:23958596). N-glycosylation is important for maturation of the enzyme and normal subcellular location (PubMed:23958596). Belongs to the AB hydrolase superfamily. Lipase family. Glycerophospholipid metabolism;Lysosome;Hydrolysis of LPC PE1 16 +NX_Q8NCC5 Sugar phosphate exchanger 3 494 54486 5.46 12 Endoplasmic reticulum;Endoplasmic reticulum membrane NA NA NA Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family. NA PE1 7 +NX_Q8NCD3 Holliday junction recognition protein 748 83539 9.4 0 Nucleoplasm;Centromere;Mitochondrion;Nucleolus NA Centromeric protein that plays a central role in the incorporation and maintenance of histone H3-like variant CENPA at centromeres. Acts as a specific chaperone for CENPA and is required for the incorporation of newly synthesized CENPA molecules into nucleosomes at replicated centromeres. Prevents CENPA-H4 tetramerization and prevents premature DNA binding by the CENPA-H4 tetramer. Directly binds Holliday junctions. NA NA Deposition of new CENPA-containing nucleosomes at the centromere PE1 2 +NX_Q8NCE0 tRNA-splicing endonuclease subunit Sen2 465 53247 7.95 0 Nucleolus;Nucleoplasm;Centrosome;Cytosol;Nucleus Pontocerebellar hypoplasia 2B Is responsible for processing a yet unknown RNA substrate. The complex containing isoform 2 is not able to cleave pre-tRNAs properly, although it retains endonucleolytic activity.;Probably carries the active site for 5'-splice site cleavage. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3'-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3'-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events.;Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. NA Belongs to the tRNA-intron endonuclease family. tRNA processing in the nucleus PE1 3 +NX_Q8NCE2 Myotubularin-related protein 14 650 72203 5.85 0 Cytoplasm Myopathy, centronuclear, 1 Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Macroautophagy;Synthesis of PIPs at the plasma membrane PE1 3 +NX_Q8NCF0 C-type lectin domain family 18 member C 446 49585 8.54 0 Golgi apparatus;Endoplasmic reticulum;Endosome;Secreted NA Binds polysaccharidesin a Ca(2+)-independent manner with a preferentially binding to fucoidan, beta-glucans and galactans. NA NA NA PE2 16 +NX_Q8NCF5 NFATC2-interacting protein 419 45817 6.19 0 Nucleoplasm;Cytoplasm;Nucleus NA In T-helper 2 (Th2) cells, regulates the magnitude of NFAT-driven transcription of a specific subset of cytokine genes, including IL3, IL4, IL5 and IL13, but not IL2. Recruits PRMT1 to the IL4 promoter; this leads to enhancement of histone H4 'Arg-3'-methylation and facilitates subsequent histone acetylation at the IL4 locus, thus promotes robust cytokine expression (By similarity). Down-regulates formation of poly-SUMO chains by UBE2I/UBC9 (By similarity). Methylation at the N-terminus by PRMT1 modulates interaction with the NFAT complex and results in augmented cytokine production. NA NA PE1 16 +NX_Q8NCG5 Carbohydrate sulfotransferase 4 386 45134 9.11 1 Golgi apparatus membrane NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues within mucin-associated glycans that ultimately serve as SELL ligands. SELL ligands are present in high endothelial cells (HEVs) and play a central role in lymphocyte homing at sites of inflammation. Participates in biosynthesis of the SELL ligand sialyl 6-sulfo Lewis X on receptors SPN/CD43, GLYCAM1 and MADCAM1. Also involved in biosynthesis of SELL ligand recognized by MECA-79 antibody. Plays a central role in lymphocyte trafficking during chronic inflammation. Has a catalytic preference for core 2-branched mucin-type O-glycans. Can use GlcNAcbeta1-6[Galbeta1-3]GalNAc-pNP (core 2), GlcNAcbeta1-6ManOMe and GlcNAcbeta1-2Man oligosaccharide structures as acceptors. Has also activity toward core 3 of GlcNAcbeta1-3GalNAc-pNP. Its substrate specificity may be influenced by its subcellular location. NA Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily. Glycosaminoglycan biosynthesis - keratan sulfate;O-linked glycosylation of mucins PE1 16 +NX_Q8NCG7 Sn1-specific diacylglycerol lipase beta 672 73732 6.09 4 Nucleoplasm;Cell membrane NA Catalyzes the hydrolysis of diacylglycerol (DAG) to 2-arachidonoyl-glycerol (2-AG), the most abundant endocannabinoid in tissues. Required for axonal growth during development and for retrograde synaptic signaling at mature synapses. NA Belongs to the AB hydrolase superfamily. Lipase family. Arachidonate production from DAG PE1 7 +NX_Q8NCH0 Carbohydrate sulfotransferase 14 376 42997 9.55 1 Cytoplasmic vesicle;Golgi apparatus membrane Ehlers-Danlos syndrome, musculocontractural type 1 Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate. Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA- than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. Appears to have an important role in the formation of the cerebellar neural network during postnatal brain development. NA Belongs to the sulfotransferase 2 family. Glycosaminoglycan biosynthesis - chondroitin sulfate;Dermatan sulfate biosynthesis;Defective CHST14 causes EDS, musculocontractural type PE1 15 +NX_Q8NCI6 Beta-galactosidase-1-like protein 3 653 74823 9.05 0 NA NA NA NA Belongs to the glycosyl hydrolase 35 family. NA PE1 11 +NX_Q8NCJ5 SPRY domain-containing protein 3 442 49694 5.78 0 Nucleoplasm;Cytosol;Cytoskeleton NA NA NA NA NA PE1 12 +NX_Q8NCK3 Zinc finger protein 485 441 50280 9.68 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 10 +NX_Q8NCK7 Monocarboxylate transporter 11 471 47791 8.67 12 Endoplasmic reticulum membrane;Cell membrane Diabetes mellitus, non-insulin-dependent Proton-linked monocarboxylate transporter. It catalyzes the transport of pyruvate across the plasma membrane (PubMed:28666119). Probably involved in hepatic lipid metabolism: overexpression results in an increase of triacylglycerol(TAG) levels, small increases in intracellular diacylglycerols and decreases in lysophosphatidylcholine, cholesterol ester and sphingomyelin lipids (PubMed:24390345). NA Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. NA PE1 17 +NX_Q8NCL4 Polypeptide N-acetylgalactosaminyltransferase 6 622 71159 8.47 1 Golgi apparatus;Nucleoplasm;Golgi apparatus membrane NA Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. May participate in synthesis of oncofetal fibronectin. Has activity toward Muc1a, Muc2, EA2 and fibronectin peptides. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 12 +NX_Q8NCL8 Transmembrane protein 116 245 27464 9.13 4 Membrane;Nucleoplasm;Cytoskeleton NA NA NA NA NA PE2 12 +NX_Q8NCL9 Protein APCDD1-like 501 55635 9.15 1 Membrane;Mitochondrion NA NA NA NA NA PE1 20 +NX_Q8NCM2 Potassium voltage-gated channel subfamily H member 5 988 111877 7.51 6 Membrane;Nucleoplasm;Cytosol;Centrosome NA Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a non-inactivating outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly. NA Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.2/KCNH5 sub-subfamily. Voltage gated Potassium channels PE1 14 +NX_Q8NCM8 Cytoplasmic dynein 2 heavy chain 1 4307 492622 6.13 0 Cytoplasm;Mitochondrion;Cilium axoneme;Cell membrane Short-rib thoracic dysplasia 3 with or without polydactyly May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity). NA Belongs to the dynein heavy chain family. Phagosome;Vasopressin-regulated water reabsorption;Salmonella infection;Intraflagellar transport;Hedgehog 'off' state PE1 11 +NX_Q8NCN2 Zinc finger and BTB domain-containing protein 34 500 55534 6 0 Nucleoplasm;Nucleus NA May be a transcriptional repressor. NA NA NA PE1 9 +NX_Q8NCN4 E3 ubiquitin-protein ligase RNF169 708 77194 9.28 0 Nucleoplasm;Cytosol;Nucleus NA Probable E3 ubiquitin-protein ligase that acts as a negative regulator of double-strand breaks (DSBs) repair following DNA damage. Recruited to DSB repair sites by recognizing and binding ubiquitin catalyzed by RNF168 and competes with TP53BP1 and BRCA1 for association with RNF168-modified chromatin, thereby acting as a negative regulator of DSBs repair. E3 ubiquitin-protein ligase activity is not required for regulation of DSBs repair. NA Belongs to the RNF169 family. Protein modification; protein ubiquitination. PE1 11 +NX_Q8NCN5 Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial 879 99364 5.93 0 Mitochondrion matrix;Mitochondrion NA Decreases the sensitivity of PDP1 to magnesium ions, and this inhibition is reversed by the polyamine spermine. NA Belongs to the GcvT family. Regulation of pyruvate dehydrogenase (PDH) complex PE1 16 +NX_Q8NCP5 Zinc finger and BTB domain-containing protein 44 570 63848 6.16 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 11 +NX_Q8NCQ2 Uncharacterized protein CSNK1G2-AS1 148 16070 11.82 0 NA NA NA NA NA NA PE2 19 +NX_Q8NCQ3 Putative uncharacterized protein encoded by LINC00301 95 11012 8.74 1 Membrane NA NA NA NA NA PE5 11 +NX_Q8NCQ5 F-box only protein 15 510 57258 8.88 0 NA NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 18 +NX_Q8NCQ7 Protein PROCA1 364 40506 7.94 0 NA NA NA NA Belongs to the PROCA1 family. NA PE1 17 +NX_Q8NCR0 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 500 56704 5.46 1 Endoplasmic reticulum;Nucleoplasm;Golgi apparatus;Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any acceptor substrate. Involved in alpha-dystroglycan (DAG1) glycosylation: acts coordinately with GTDC2/POMGnT2 to synthesize a GalNAc-beta3-GlcNAc-beta-terminus at the 4-position of protein O-mannose in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan, which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. N-glycosylated. Belongs to the glycosyltransferase 31 family. Protein modification; protein glycosylation.;O-linked glycosylation PE1 1 +NX_Q8NCR3 Uncharacterized protein C11orf65 313 36720 7.22 0 NA NA NA NA NA NA PE1 11 +NX_Q8NCR6 Spermatid-specific manchette-related protein 1 262 30167 8.76 0 Cytoplasm;Nucleus;Cytoskeleton NA May play a role in spermatogenesis (By similarity). May be involved in differentiation or function of ciliated cells. NA Belongs to the SMRP1 family. NA PE1 9 +NX_Q8NCR9 Clarin-3 226 25321 9.3 4 Membrane NA NA NA Belongs to the clarin family. NA PE1 10 +NX_Q8NCS4 Transmembrane protein 35B 154 16885 9.26 3 Membrane;Nucleoplasm;Nucleolus NA NA NA Belongs to the DoxX family. NA PE1 1 +NX_Q8NCS7 Choline transporter-like protein 5 719 81694 8.47 10 Membrane;Cytosol NA NA NA Belongs to the CTL (choline transporter-like) family. Synthesis of PC;Transport of bile salts and organic acids, metal ions and amine compounds PE1 1 +NX_Q8NCT1 Arrestin domain-containing protein 4 418 45479 5.84 0 Cytoplasmic vesicle;Early endosome;Cell membrane NA Functions as an adapter recruiting ubiquitin-protein ligases to their specific substrates (By similarity). Plays a role in endocytosis of activated G protein-coupled receptors (GPCRs) (Probable). Through an ubiquitination-dependent mechanism plays also a role in the incorporation of SLC11A2 into extracellular vesicles (By similarity). May play a role in glucose uptake (PubMed:19605364). NA Belongs to the arrestin family. NA PE1 15 +NX_Q8NCT3 Uncharacterized protein KIAA0895 520 60525 10.03 0 Nucleoplasm;Cytosol;Cell junction;Cell membrane NA NA NA NA NA PE1 7 +NX_Q8NCU1 Uncharacterized protein CCDC197 143 16081 6.11 0 NA NA NA NA NA NA PE1 14 +NX_Q8NCU4 Coiled-coil domain-containing protein 191 936 110568 9.61 0 Mitochondrion NA NA NA NA NA PE1 3 +NX_Q8NCU7 C2 calcium-dependent domain-containing protein 4A 369 39744 11.28 0 Nucleus NA May be involved in inflammatory process. May regulate cell architecture and adhesion. NA Belongs to the C2CD4 family. NA PE1 15 +NX_Q8NCU8 Mitoregulin 56 6527 11.27 1 Mitochondrion inner membrane NA Positively regulates mitochondrial complex assembly and/or stability (By similarity). Increases mitochondrial membrane potential and mitochondrial respiration rate awhile decreasing mitochondrial reactive oxygen species (PubMed:29949756). Also increases mitochondrial calcium retention capacity (PubMed:29949756). NA Belongs to the mitoregulin family. NA PE1 2 +NX_Q8NCV1 Adenosine deaminase domain-containing protein 2 583 61755 9.11 0 NA NA NA NA Belongs to the ADAD family. NA PE1 16 +NX_Q8NCW0 Kremen protein 2 462 48849 7.44 1 Membrane;Nucleolus NA Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6. Plays a role in limb development; attenuates Wnt signaling in the developing limb to allow normal limb patterning and can also negatively regulate bone formation. NA NA TCF dependent signaling in response to WNT;Negative regulation of TCF-dependent signaling by WNT ligand antagonists;Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling PE1 16 +NX_Q8NCW5 NAD(P)H-hydrate epimerase 288 31675 7.56 0 Nucleoplasm;Cytosol;Mitochondrion;Secreted Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy Catalyzes the epimerization of the S- and R-forms of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration. This is a prerequisite for the S-specific NAD(P)H-hydrate dehydratase to allow the repair of both epimers of NAD(P)HX. Undergoes physiological phosphorylation during sperm capacitation, downstream to PKA activation. Belongs to the NnrE/AIBP family. Nicotinamide salvaging PE1 1 +NX_Q8NCW6 Polypeptide N-acetylgalactosaminyltransferase 11 608 68919 8.47 1 Golgi apparatus membrane NA Polypeptide N-acetylgalactosaminyltransferase that catalyzes the initiation of protein O-linked glycosylation and is involved in left/right asymmetry by mediating O-glycosylation of NOTCH1. O-glycosylation of NOTCH1 promotes activation of NOTCH1, modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO). Polypeptide N-acetylgalactosaminyltransferases catalyze the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays the same enzyme activity toward MUC1, MUC4, and EA2 than GALNT1. Not involved in glycosylation of erythropoietin (EPO). NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 7 +NX_Q8NCX0 Coiled-coil domain-containing protein 150 1101 128761 6.58 0 Nucleoplasm NA NA NA NA NA PE1 2 +NX_Q8NCY6 Myb/SANT-like DNA-binding domain-containing protein 4 345 41150 5.37 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 11 +NX_Q8ND04 Protein SMG8 991 109684 7.74 0 Nucleoplasm NA Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG9 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required to mediate the recruitment of SMG1 to the ribosome:SURF complex and to suppress SMG1 kinase activity until the ribosome:SURF complex locates the exon junction complex (EJC). Acts as a regulator of kinase activity. Phosphorylated by SMG1. Belongs to the SMG8 family. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) PE1 17 +NX_Q8ND07 Basal body-orientation factor 1 529 61987 9.07 0 Nucleoplasm;Centriolar satellite;Cilium basal body;Cell membrane NA Basal body protein required in multiciliate cells to align and maintain cilia orientation in response to flow. May act by mediating a maturation step that stabilizes and aligns cilia orientation. Not required to respond to planar cell polarity (PCP) or flow-based orientation cues (By similarity). NA Belongs to the BBOF1 family. NA PE1 14 +NX_Q8ND23 Capping protein, Arp2/3 and myosin-I linker protein 3 1372 150230 7.2 0 Cytoplasm;Cell membrane NA NA NA Belongs to the CARMIL family. NA PE1 14 +NX_Q8ND24 RING finger protein 214 703 77667 6.51 0 Golgi apparatus;Cytosol NA NA NA NA NA PE1 11 +NX_Q8ND25 E3 ubiquitin-protein ligase ZNRF1 227 23783 6.18 0 Golgi apparatus;Cell membrane;Membrane;Endosome;Synaptic vesicle membrane;Lysosome NA E3 ubiquitin-protein ligase that mediates the ubiquitination of AKT1 and GLUL, thereby playing a role in neuron cells differentiation. Plays a role in the establishment and maintenance of neuronal transmission and plasticity. Regulates Schwann cells differentiation by mediating ubiquitination of GLUL. Promotes neurodegeneration by mediating 'Lys-48'-linked polyubiquitination and subsequent degradation of AKT1 in axons: degradation of AKT1 prevents AKT1-mediated phosphorylation of GSK3B, leading to GSK3B activation and phosphorylation of DPYSL2/CRMP2 followed by destabilization of microtubule assembly in axons (Probable). NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 16 +NX_Q8ND30 Liprin-beta-2 876 98544 5.88 0 Mitochondrion NA May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A. NA Belongs to the liprin family. Liprin-beta subfamily. Receptor-type tyrosine-protein phosphatases PE1 11 +NX_Q8ND56 Protein LSM14 homolog A 463 50530 9.55 0 Cytosol;P-body;Stress granule NA Essential for formation of P-bodies, cytoplasmic structures that provide storage sites for non-translating mRNAs. NA Belongs to the LSM14 family. NA PE1 19 +NX_Q8ND61 Uncharacterized protein C3orf20 904 101266 9.24 1 Membrane;Cytoplasm;Cytosol;Cell membrane NA NA NA NA NA PE1 3 +NX_Q8ND71 GTPase IMAP family member 8 665 74890 8.62 0 Golgi apparatus;Endoplasmic reticulum;Cytosol;Mitochondrion NA Exerts an anti-apoptotic effect in the immune system and is involved in responses to infections. NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase family. IAN subfamily. NA PE1 7 +NX_Q8ND76 Cyclin-Y 341 39337 6.76 0 Nucleus;Cell membrane NA Might play a role in the activation of MYC-mediated transcription.;Positive regulatory subunit of the cyclin-dependent kinases CDK14/PFTK1 and CDK16. Acts as a cell-cycle regulator of Wnt signaling pathway during G2/M phase by recruiting CDK14/PFTK1 to the plasma membrane and promoting phosphorylation of LRP6, leading to the activation of the Wnt signaling pathway. Recruits CDK16 to the plasma membrane. Ubiquitinated; leading to its degradation.;Heavily phosphorylated. Phosphorylation at Ser-71 and Ser-73 by CDK14 is enhanced during the G2 and M cell cycle phases, and creates a phosphodegron triggering SCF-dependent ubiquitination. Belongs to the cyclin family. Cyclin Y subfamily. NA PE1 10 +NX_Q8ND82 Zinc finger protein 280C 737 83096 9.29 0 Nucleoplasm;Nucleus;Nucleolus NA May function as a transcription factor. NA NA NA PE1 X +NX_Q8ND83 SLAIN motif-containing protein 1 568 60595 7.57 0 Cytoskeleton NA Microtubule plus-end tracking protein that might be involved in the regulation of cytoplasmic microtubule dynamics, microtubule organization and microtubule elongation. NA Belongs to the SLAIN motif-containing family. NA PE1 13 +NX_Q8ND90 Paraneoplastic antigen Ma1 353 39761 4.78 0 Nucleolus NA NA NA Belongs to the PNMA family. NA PE1 14 +NX_Q8ND94 LRRN4 C-terminal-like protein 238 25262 6.07 1 Membrane;Nucleoplasm;Nucleus NA NA NA NA NA PE1 11 +NX_Q8NDA2 Hemicentin-2 5059 541978 5.57 0 Cytoplasmic vesicle;Extracellular matrix;Cleavage furrow NA NA NA NA NA PE1 9 +NX_Q8NDA8 Maestro heat-like repeat-containing protein family member 1 1641 181249 6.44 0 Nucleoplasm NA NA NA NA NA PE1 8 +NX_Q8NDB2 B-cell scaffold protein with ankyrin repeats 785 89282 5.28 0 Nucleoplasm;Cytosol;Cell membrane Systemic lupus erythematosus Involved in B-cell receptor (BCR)-induced Ca(2+) mobilization from intracellular stores. Promotes Lyn-mediated phosphorylation of IP3 receptors 1 and 2. Phosphorylated on tyrosines upon BCR activation. NA NA PE1 4 +NX_Q8NDB6 Protein FAM156A/FAM156B 213 24412 9.75 1 Membrane;Nucleus envelope NA NA NA NA NA PE1 X +NX_Q8NDC0 MAPK-interacting and spindle-stabilizing protein-like 245 24269 5.3 0 Nucleoplasm;Cytosol NA NA NA Belongs to the MISS family. NA PE1 14 +NX_Q8NDC4 MORN repeat-containing protein 4 146 16236 7.88 0 Stereocilium;Cytoplasm;Filopodium tip;Nucleus NA Plays a role in promoting axonal degeneration following neuronal injury by toxic insult or trauma. NA NA NA PE1 10 +NX_Q8NDD1 Uncharacterized protein C1orf131 293 32610 9.88 0 Chromosome NA NA NA NA NA PE1 1 +NX_Q8NDF8 Terminal nucleotidyltransferase 4B 572 63267 9.07 0 Cytoplasm;Nucleolus;Nucleus NA Terminal nucleotidyltransferase that catalyzes preferentially the transfert of ATP and GTP on RNA 3' poly(A) tail creating a heterogeneous 3' poly(A) tail leading to mRNAs stabilization by protecting mRNAs from active deadenylation (PubMed:21788334, PubMed:30026317). Also functions as a catalytic subunit of a TRAMP-like complex which has a poly(A) RNA polymerase activity and is involved in a post-transcriptional quality control mechanism. Polyadenylation with short oligo(A) tails is required for the degradative activity of the exosome on several of its nuclear RNA substrates. Doesn't need a cofactor for polyadenylation activity (in vitro) (PubMed:21788334, PubMed:21855801). Required for cytoplasmic polyadenylation of mRNAs involved in carbohydrate metabolism, including the glucose transporter SLC2A1/GLUT1 (PubMed:28383716). Plays a role in replication-dependent histone mRNA degradation, probably through terminal uridylation of mature histone mRNAs. May play a role in sister chromatid cohesion (PubMed:18172165). Mediates 3' adenylation of the microRNA MIR21 followed by its 3'-to-5' trimming by the exoribonuclease PARN leading to degradation (PubMed:25049417). Mediates 3' adenylation of H/ACA box snoRNAs (small nucleolar RNAs) followed by its 3'-to-5' trimming by the exoribonuclease PARN which enhances snoRNA stability and maturation (PubMed:22442037). NA Belongs to the DNA polymerase type-B-like family. NA PE1 16 +NX_Q8NDG6 ATP-dependent RNA helicase TDRD9 1382 155683 6.62 0 Cytoplasm;Nucleus Spermatogenic failure 30 ATP-binding RNA helicase required during spermatogenesis (PubMed:28536242). Required to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Acts downstream of piRNA biogenesis: exclusively required for transposon silencing in the nucleus, suggesting that it acts as a nuclear effector in the nucleus together with PIWIL4. NA Belongs to the DEAD box helicase family. DEAH subfamily. PIWI-interacting RNA (piRNA) biogenesis PE1 14 +NX_Q8NDH2 Coiled-coil domain-containing protein 168 2452 277951 9.35 0 NA NA NA NA NA NA PE1 13 +NX_Q8NDH3 Probable aminopeptidase NPEPL1 523 55861 6.41 0 Nucleoplasm NA Probably catalyzes the removal of unsubstituted N-terminal amino acids from various peptides. NA Belongs to the peptidase M17 family. NA PE1 20 +NX_Q8NDH6 Islet cell autoantigen 1-like protein 482 54407 5.18 0 Mitochondrion NA NA NA NA NA PE1 2 +NX_Q8NDI1 EH domain-binding protein 1 1231 140017 5.24 0 Cytoplasm;Cell membrane;Membrane;Endosome;Cytosol Prostate cancer, hereditary, 12 May play a role in actin reorganization. Links clathrin-mediated endocytosis to the actin cytoskeleton. May act as Rab effector protein and play a role in vesicle trafficking (PubMed:14676205, PubMed:27552051). Required for perinuclear sorting and insulin-regulated recycling of SLC2A4/GLUT4 in adipocytes (By similarity). Prenylated (Probable). Farnelysation (predominant) and geranylgeranylation has been observed in vitro. NA NA PE1 2 +NX_Q8NDL9 Cytosolic carboxypeptidase-like protein 5 886 97534 9.34 0 Cytoplasm;Nucleus;Cytosol;Spindle;Midbody;Cytoskeleton Retinitis pigmentosa 75 Metallocarboxypeptidase that mediates protein deglutamylation. Specifically catalyzes the deglutamylation of the branching point glutamate side chains generated by post-translational glutamylation in proteins such as tubulins. In contrast, it is not able to act as a long-chain deglutamylase that shortens long polyglutamate chains, a process catalyzed by AGTPBP1/CCP1, AGBL2/CCP2, AGBL3/CCP3, AGBL1/CCP4 and AGBL4/CCP6. Mediates deglutamylation of CGAS, regulating the antiviral activity of CGAS. NA Belongs to the peptidase M14 family. Carboxyterminal post-translational modifications of tubulin PE1 2 +NX_Q8NDM7 Cilia- and flagella-associated protein 43 1665 191984 5.71 0 Flagellum;Cytoplasm;Flagellum axoneme Spermatogenic failure 19 Flagellar protein involved in sperm flagellum axoneme organization and function. NA Belongs to the CFAP43 family. NA PE1 10 +NX_Q8NDN9 RCC1 and BTB domain-containing protein 1 531 58252 6.02 0 Cytoplasm;Nucleoplasm;Nucleus Retinal dystrophy with or without extraocular anomalies May be involved in cell cycle regulation by chromatin remodeling. NA NA NA PE1 13 +NX_Q8NDP4 Zinc finger protein 439 499 58395 9.4 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8NDQ6 Zinc finger protein 540 660 77094 9.58 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA May act as a transcriptional repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8NDT2 Putative RNA-binding protein 15B 890 97205 9.86 0 Nucleoplasm;Nucleus speckle;Nucleus envelope NA RNA-binding protein that acts as a key regulator of N6-methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as alternative splicing of mRNAs and X chromosome inactivation mediated by Xist RNA (PubMed:16129689, PubMed:27602518). Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:27602518). Plays a key role in m6A methylation, possibly by binding target RNAs and recruiting the WMM complex (PubMed:27602518). Involved in random X inactivation mediated by Xist RNA: acts by binding Xist RNA and recruiting the WMM complex, which mediates m6A methylation, leading to target YTHDC1 reader on Xist RNA and promoting transcription repression activity of Xist (PubMed:27602518). Functions in the regulation of alternative or illicit splicing, possibly by regulating m6A methylation (PubMed:16129689). Inhibits pre-mRNA splicing (PubMed:21044963). Also functions as a mRNA export factor by acting as a cofactor for the nuclear export receptor NXF1 (PubMed:19586903). NA Belongs to the RRM Spen family. NA PE1 3 +NX_Q8NDV1 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 305 35395 9.23 1 Nucleoplasm;Golgi apparatus membrane NA Involved in the biosynthesis of ganglioside GD1A from GM1B. Transfers CMP-NeuAc with an alpha-2,6-linkage to GalNAc residue on NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc of glycoproteins and glycolipids. ST6GalNAcIII prefers glycolipids to glycoproteins (By similarity). NA Belongs to the glycosyltransferase 29 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - ganglio series;Metabolic pathways;Sialic acid metabolism;Termination of O-glycan biosynthesis PE1 1 +NX_Q8NDV2 G-protein coupled receptor 26 337 37604 9.82 7 Cell membrane NA Orphan receptor. Displays a significant level of constitutive activity. Its effect is mediated by G(s)-alpha protein that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 10 +NX_Q8NDV3 Structural maintenance of chromosomes protein 1B 1235 143908 7.69 0 Chromosome;Nucleoplasm;Centromere;Cytosol;Nucleus NA Meiosis-specific component of cohesin complex. Required for the maintenance of meiotic cohesion, but not, or only to a minor extent, for its establishment. Contributes to axial element (AE) formation and the organization of chromatin loops along the AE. Plays a key role in synapsis, recombination and chromosome movements. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I (By similarity). NA Belongs to the SMC family. SMC1 subfamily. Cell cycle;Oocyte meiosis;Meiotic synapsis PE1 22 +NX_Q8NDV7 Trinucleotide repeat-containing gene 6A protein 1962 210297 6.55 0 Golgi apparatus;Nucleoplasm;P-body;Cytoplasmic vesicle Epilepsy, familial adult myoclonic, 6 Plays a role in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (siRNAs). Required for miRNA-dependent repression of translation and for siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins. As a scaffolding protein, associates with argonaute proteins bound to partially complementary mRNAs, and can simultaneously recruit CCR4-NOT and PAN deadenylase complexes. NA Belongs to the GW182 family. MAPK6/MAPK4 signaling;Transcriptional regulation by small RNAs;Oxidative Stress Induced Senescence;Pre-NOTCH Transcription and Translation;TP53 Regulates Metabolic Genes;Ca2+ pathway;Post-transcriptional silencing by small RNAs;Oncogene Induced Senescence;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Regulation of RUNX1 Expression and Activity;Regulation of PTEN mRNA translation;Competing endogenous RNAs (ceRNAs) regulate PTEN translation;Estrogen-dependent gene expression;Transcriptional Regulation by MECP2;Regulation of MECP2 expression and activity PE1 16 +NX_Q8NDW4 Zinc finger protein 248 579 67087 8.59 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 10 +NX_Q8NDW8 Tetratricopeptide repeat protein 21A 1320 150944 6.85 0 Nucleoplasm Spermatogenic failure 37 Intraflagellar transport (IFT)-associated protein required for spermatogenesis (PubMed:30929735). Required for sperm flagellar formation and intraflagellar transport (PubMed:30929735). NA Belongs to the TTC21 family. NA PE1 3 +NX_Q8NDX1 PH and SEC7 domain-containing protein 4 1056 116249 5.31 0 Ruffle membrane;Cell membrane NA Guanine nucleotide exchange factor for ARF6 and ARL14/ARF7. Through ARL14 activation, controls the movement of MHC class II-containing vesicles along the actin cytoskeleton in dendritic cells. Involved in membrane recycling. Interacts with several phosphatidylinositol phosphate species, including phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 4,5-bisphosphate. NA NA Endocytosis PE1 2 +NX_Q8NDX2 Vesicular glutamate transporter 3 589 64991 5.95 12 Membrane;Synaptic vesicle membrane;Synaptosome Deafness, autosomal dominant, 25 Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate. NA Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily. Synaptic vesicle cycle;Glutamatergic synapse;Organic anion transporters;Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) PE1 12 +NX_Q8NDX5 Polyhomeotic-like protein 3 983 106162 6.15 0 Nucleoplasm;Nucleus NA Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. NA NA SUMOylation of DNA damage response and repair proteins;Oxidative Stress Induced Senescence;SUMOylation of RNA binding proteins;SUMOylation of chromatin organization proteins;Transcriptional Regulation by E2F6;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known;Regulation of PTEN gene transcription;SUMOylation of transcription cofactors;SUMOylation of DNA methylation proteins PE1 3 +NX_Q8NDX6 Zinc finger protein 740 193 21857 9.38 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 12 +NX_Q8NDX9 Lymphocyte antigen 6 complex locus protein G5b 201 22572 6.17 0 Secreted NA NA N-glycosylated. NA NA PE1 6 +NX_Q8NDY3 [Protein ADP-ribosylarginine] hydrolase-like protein 1 354 40105 5.58 0 Nucleoplasm NA NA NA Belongs to the ADP-ribosylglycohydrolase family. NA PE1 13 +NX_Q8NDY4 Myelodysplastic syndrome 2 translocation-associated protein 140 15384 8.83 0 NA NA NA NA NA NA PE2 1 +NX_Q8NDY6 Class E basic helix-loop-helix protein 23 225 23665 9.37 0 Nucleus NA May function as transcriptional repressor. May modulate the expression of genes required for the differentiation and/or maintenance of pancreatic and neuronal cell types. May be important for rod bipolar cell maturation (By similarity). NA NA NA PE1 20 +NX_Q8NDY8 Transmembrane protein 52 209 22122 5.53 1 Membrane NA NA NA NA NA PE2 1 +NX_Q8NDZ0 BEN domain-containing protein 2 799 87919 5.23 0 NA NA NA NA NA NA PE1 X +NX_Q8NDZ2 SUMO-interacting motif-containing protein 1 872 96838 6.1 0 Nucleoplasm;Nucleolus NA NA NA NA NA PE1 5 +NX_Q8NDZ4 Divergent protein kinase domain 2A 430 49482 8.84 0 Golgi apparatus;COPI-coated vesicle;Secreted NA May play a role in cardiomyocyte proliferation through paracrine signaling and activation of the PPI3K-AKT-CDK7 signaling cascade. NA Belongs to the DIPK family. NA PE1 3 +NX_Q8NDZ6 Transmembrane protein 161B 487 55482 8.59 8 Membrane NA NA NA Belongs to the TMEM161 family. NA PE1 5 +NX_Q8NE00 Transmembrane protein 104 496 55679 6.79 11 Membrane;Nucleoplasm;Golgi apparatus NA NA NA Belongs to the TMEM104 family. NA PE1 17 +NX_Q8NE01 Metal transporter CNNM3 707 76119 5.76 4 Cytosol;Cell membrane NA Probable metal transporter. NA Belongs to the ACDP family. NA PE1 2 +NX_Q8NE09 Regulator of G-protein signaling 22 1264 147163 8.08 0 Cytoplasm;Nucleus NA Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. NA NA G alpha (i) signalling events PE1 8 +NX_Q8NE18 Putative methyltransferase NSUN7 718 81039 8.95 0 Cytoplasmic vesicle NA May have S-adenosyl-L-methionine-dependent methyl-transferase activity. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. NA PE1 4 +NX_Q8NE22 SET domain-containing protein 9 299 34095 8.93 0 Nucleoplasm NA NA NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Regulation of TP53 Activity through Methylation PE1 5 +NX_Q8NE28 Serine/threonine kinase-like domain-containing protein STKLD1 680 75677 5.17 0 NA NA NA NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily. NA PE1 9 +NX_Q8NE31 Protein FAM13C 585 65727 5.5 0 Nucleoplasm;Cytosol NA NA NA Belongs to the FAM13 family. NA PE1 10 +NX_Q8NE35 Cytoplasmic polyadenylation element-binding protein 3 698 76014 6.56 0 Cytoplasm;Postsynaptic density;Synapse;Dendrite;Nucleus NA Sequence-specific RNA-binding protein which acts as a translational repressor in the basal unstimulated state but, following neuronal stimulation, acts as a translational activator (By similarity). In contrast to CPEB1, does not bind to the cytoplasmic polyadenylation element (CPE), a uridine-rich sequence element within the mRNA 3'-UTR, but binds to a U-rich loop within a stem-loop structure (By similarity). Required for the consolidation and maintenance of hippocampal-based long term memory (By similarity). In the basal state, binds to the mRNA 3'-UTR of the glutamate receptors GRIA2/GLUR2 mRNA and negatively regulates their translation (By similarity). Also represses the translation of DLG4, GRIN1, GRIN2A and GRIN2B (By similarity). When activated, acts as a translational activator of GRIA1 and GRIA2 (By similarity). In the basal state, suppresses SUMO2 translation but activates it following neuronal stimulation (By similarity). Binds to the 3'-UTR of TRPV1 mRNA and represses TRPV1 translation which is required to maintain normal thermoception (By similarity). Binds actin mRNA, leading to actin translational repression in the basal state and to translational activation following neuronal stimulation (By similarity). Negatively regulates target mRNA levels by binding to TOB1 which recruits CNOT7/CAF1 to a ternary complex and this leads to target mRNA deadenylation and decay (PubMed:21336257). In addition to its role in translation, binds to and inhibits the transcriptional activation activity of STAT5B without affecting its dimerization or DNA-binding activity. This, in turn, represses transcription of the STAT5B target gene EGFR which has been shown to play a role in enhancing learning and memory performance (PubMed:20639532). In contrast to CPEB1, CPEB2 and CPEB4, not required for cell cycle progression (PubMed:26398195). Activated by NEURL1-mediated monoubiquitination, resulting in the growth of new dendritic spines and increased levels of GRIA1 and GRIA2. NEURL1-mediated monoubiquitination facilitates synaptic plasticity and hippocampal-dependent memory storage.;Following neuronal stimulation, cleaved by CAPN2 which abolishes its translational repressor activity, leading to translation of CPEB3 target mRNAs.;Phosphorylation is enhanced by neuronal stimulation.;Under basal unstimulated conditions when CPEB3 is mainly unaggregated, sumoylated and acts as a translational repressor. Following neuronal stimulation, becomes desumoylated and aggregated which is required for the translation of mRNA targets and for dendritic filopodia formation. Belongs to the RRM CPEB family. NA PE1 10 +NX_Q8NE62 Choline dehydrogenase, mitochondrial 594 65358 8.57 0 Mitochondrion inner membrane NA NA NA Belongs to the GMC oxidoreductase family. Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine aldehyde from choline (cytochrome c reductase route): step 1/1.;Glycine, serine and threonine metabolism;Choline catabolism PE1 3 +NX_Q8NE63 Homeodomain-interacting protein kinase 4 616 69425 6.18 0 Cytoplasm NA Protein kinase that phosphorylates human TP53 at Ser-9, and thus induces TP53 repression of BIRC5 promoter (By similarity). May act as a corepressor of transcription factors (Potential). Autophosphorylated. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. HIPK subfamily. NA PE1 19 +NX_Q8NE65 Protein ZNF738 137 15884 4.99 0 Nucleus NA May be involved in transcriptional regulation. NA NA Generic Transcription Pathway PE1 19 +NX_Q8NE71 ATP-binding cassette sub-family F member 1 845 95926 6.4 0 Cytoplasm;Nucleoplasm;Nucleus envelope;Cytosol NA Is not involved in the ribosome biogenesis.;Is required for efficient Cap- and IRES-mediated mRNA translation initiation. Is phosphorylated at phosphoserine and phosphothreonine.;Phosphorylation on Ser-109 and Ser-140 by CK2 inhibits association of EIF2 with ribosomes. Belongs to the ABC transporter superfamily. ABCF family. EF3 subfamily. ABC-family proteins mediated transport PE1 6 +NX_Q8NE79 Blood vessel epicardial substance 360 41451 8.02 3 Lateral cell membrane;Cell membrane;Cell junction;Membrane;Tight junction;Caveola;Sarcolemma Muscular dystrophy, limb-girdle, autosomal recessive 25 Cell adhesion molecule involved in the establishment and/or maintenance of cell integrity. Involved in the formation and regulation of the tight junction (TJ) paracellular permeability barrier in epithelial cells (PubMed:16188940). Plays a role in VAMP3-mediated vesicular transport and recycling of different receptor molecules through its interaction with VAMP3. Plays a role in the regulation of cell shape and movement by modulating the Rho-family GTPase activity through its interaction with ARHGEF25/GEFT. Induces primordial adhesive contact and aggregation of epithelial cells in a Ca(2+)-independent manner. Also involved in striated muscle regeneration and repair and in the regulation of cell spreading (By similarity). Important for the maintenance of cardiac function. Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density (PubMed:26642364). Is also a caveolae-associated protein important for the preservation of caveolae structural and functional integrity as well as for heart protection against ischemia injury. NA Belongs to the popeye family. NA PE1 6 +NX_Q8NE86 Calcium uniporter protein, mitochondrial 351 39867 8.83 2 Mitochondrion inner membrane;Mitochondrion NA Mitochondrial inner membrane calcium uniporter that mediates calcium uptake into mitochondria (PubMed:21685888, PubMed:21685886, PubMed:23101630, PubMed:22904319, PubMed:23178883, PubMed:22829870, PubMed:22822213, PubMed:24332854, PubMed:23755363, PubMed:26341627). Constitutes the pore-forming and calcium-conducting subunit of the uniporter complex (uniplex) (PubMed:23755363). Activity is regulated by MICU1 and MICU2. At low Ca(2+) levels MCU activity is down-regulated by MICU1 and MICU2; at higher Ca(2+) levels MICU1 increases MCU activity (PubMed:24560927, PubMed:26903221). Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways. Involved in buffering the amplitude of systolic calcium rises in cardiomyocytes (PubMed:22822213). While dispensable for baseline homeostatic cardiac function, acts as a key regulator of short-term mitochondrial calcium loading underlying a 'fight-or-flight' response during acute stress: acts by mediating a rapid increase of mitochondrial calcium in pacemaker cells (PubMed:25603276). Participates in mitochondrial permeability transition during ischemia-reperfusion injury (By similarity). Regulates glucose-dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake (PubMed:22904319, PubMed:22829870). Mitochondrial calcium uptake in skeletal muscle cells is involved in muscle size in adults (By similarity). Regulates synaptic vesicle endocytosis kinetics in central nerve terminal (By similarity). Involved in antigen processing and presentation (By similarity). Phosphorylation by CaMK2 in heart leads to increased MCU current (PubMed:23051746, PubMed:25254481). The regulation of MCU by CaMK2 is however subject to discussion: another group was unable to reproduce these results (PubMed:25254480). Phosphorylated on tyrosines by PTK2B/PYK2, promoting oligomerization (PubMed:24800979). Belongs to the MCU (TC 1.A.77) family. Processing of SMDT1;Mitochondrial calcium ion transport PE1 10 +NX_Q8NEA4 F-box only protein 36 188 22105 8.64 0 Nucleoplasm;Nucleolus NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA NA NA PE1 2 +NX_Q8NEA5 Uncharacterized protein C19orf18 215 24151 9.06 1 Membrane;Golgi apparatus NA NA NA NA NA PE1 19 +NX_Q8NEA6 Zinc finger protein GLIS3 775 83636 8.34 0 Nucleoplasm;Nucleus Diabetes mellitus, neonatal, with congenital hypothyroidism Acts as both a repressor and activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity). NA Belongs to the GLI C2H2-type zinc-finger protein family. NA PE1 9 +NX_Q8NEA9 Germ cell-less protein-like 2 526 60299 8.48 0 Nucleus matrix NA Possible function in spermatogenesis. Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312). NA NA Protein modification; protein ubiquitination. PE1 5 +NX_Q8NEB5 Phospholipid phosphatase 5 264 29484 8.81 5 Membrane;Cytoplasmic vesicle NA Displays magnesium-independent phosphatidate phosphatase activity in vitro. Catalyzes the conversion of phosphatidic acid to diacylglycerol. May be a metastatic suppressor for hepatocellular carcinoma. NA Belongs to the PA-phosphatase related phosphoesterase family. Role of phospholipids in phagocytosis PE1 8 +NX_Q8NEB7 Acrosin-binding protein 543 61359 5.09 0 Cytoplasmic vesicle;Nucleoplasm;Secreted;Acrosome NA May be involved in packaging and condensation of the acrosin zymogen in the acrosomal matrix via its association with proacrosin. The N-terminus is blocked.;Phosphorylated on Tyr residues in capacitated sperm. NA NA PE1 12 +NX_Q8NEB9 Phosphatidylinositol 3-kinase catalytic subunit type 3 887 101549 6.37 0 Autophagosome;Late endosome;Midbody NA Catalytic subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123, PubMed:20208530). Involved in the transport of lysosomal enzyme precursors to lysosomes. Required for transport from early to late endosomes (By similarity). NA Belongs to the PI3/PI4-kinase family. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Regulation of autophagy;Phagosome;Tuberculosis;Macroautophagy;Synthesis of PIPs at the Golgi membrane;Synthesis of PIPs at the early endosome membrane;PI3K Cascade;Synthesis of PIPs at the late endosome membrane;Toll Like Receptor 9 (TLR9) Cascade;RHO GTPases Activate NADPH Oxidases PE1 18 +NX_Q8NEC5 Cation channel sperm-associated protein 1 780 90091 7.22 6 Flagellum membrane Spermatogenic failure 7 Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte. NA Belongs to the cation channel sperm-associated (TC 1.A.1.19) family. Sperm Motility And Taxes PE1 11 +NX_Q8NEC7 Glutathione S-transferase C-terminal domain-containing protein 633 71079 8.04 0 Cytoplasm;Nucleoplasm NA NA NA Belongs to the GSTCD family. NA PE1 4 +NX_Q8NEE0 Putative uncharacterized protein KLHL30-AS1 82 9662 10.17 0 NA NA NA NA NA NA PE5 2 +NX_Q8NEE6 Dynein regulatory complex subunit 6 735 83924 9.03 0 Flagellum axoneme NA Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA Belongs to the DRC6 family. Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 7 +NX_Q8NEE8 Tetratricopeptide repeat protein 16 873 98309 9.15 0 NA NA NA NA NA NA PE1 9 +NX_Q8NEF3 Coiled-coil domain-containing protein 112 446 53565 9.48 0 Nucleoplasm;Cytosol;Cell membrane NA NA NA NA NA PE1 5 +NX_Q8NEF9 Serum response factor-binding protein 1 429 48634 9.59 0 Nucleoplasm;Perinuclear region;Nucleolus;Cytoplasmic vesicle NA May be involved in regulating transcriptional activation of cardiac genes during the aging process. May play a role in biosynthesis and/or processing of SLC2A4 in adipose cells (By similarity). NA NA NA PE1 5 +NX_Q8NEG0 Protein FAM71C 241 27472 6.53 0 NA NA NA NA Belongs to the FAM71 family. NA PE1 12 +NX_Q8NEG2 Uncharacterized protein C7orf57 295 32846 7.78 0 NA NA NA NA NA NA PE1 7 +NX_Q8NEG4 Protein FAM83F 500 55486 8.38 0 Nucleoplasm;Mitochondrion NA NA NA Belongs to the FAM83 family. NA PE1 22 +NX_Q8NEG5 E3 ubiquitin-protein ligase ZSWIM2 633 72732 8.95 0 NA NA E3 ubiquitin-protein ligase involved in the regulation of Fas-, DR3- and DR4-mediated apoptosis. Functions in conjunction with the UBE2D1, UBE2D3 and UBE2E1 E2 ubiquitin-conjugating enzymes. Polyubiquitinated. Polyubiquitination is followed by degradation via the proteasome (By similarity). NA NA PE1 2 +NX_Q8NEG7 Protein DENND6B 585 66464 9.11 0 Recycling endosome;Cytoplasm;Cell membrane NA Guanine nucleotide exchange factor (GEF) for RAB14. Also has some, lesser GEF activity towards RAB35. NA Belongs to the DENND6 family. RAB GEFs exchange GTP for GDP on RABs PE1 22 +NX_Q8NEH6 Meiosis-specific nuclear structural protein 1 495 60571 6.73 0 Nucleoplasm;Nucleus speckle;Nucleus NA May play a role in the control of meiotic division and germ cell differentiation through regulation of pairing and recombination during meiosis. NA Belongs to the MNS1 family. NA PE1 15 +NX_Q8NEJ0 Dual specificity protein phosphatase 18 188 21066 7.04 0 Cytoplasm;Nucleoplasm;Mitochondrion inner membrane;Nucleus NA Can dephosphorylate single and diphosphorylated synthetic MAPK peptides, with preference for the phosphotyrosine and diphosphorylated forms over phosphothreonine. In vitro, dephosphorylates p-nitrophenyl phosphate (pNPP). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. NA PE1 22 +NX_Q8NEJ9 Neuroguidin 315 35894 9.57 0 Cytoplasm;Mitochondrion;Nucleolus;Nucleoplasm;Centromere;Filopodium;Axon;Dendrite;Nucleus NA Involved in the translational repression of cytoplasmic polyadenylation element (CPE)-containing mRNAs. NA Belongs to the SAS10 family. NA PE1 14 +NX_Q8NEK5 Zinc finger protein 548 533 62728 8.37 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8NEK8 Terminal nucleotidyltransferase 5D 389 44500 6.17 0 NA NA Nucleotidyltransferase that act as a non-canonical poly(A) RNA polymerase. NA Belongs to the TENT family. NA PE1 X +NX_Q8NEL0 Coiled-coil domain-containing protein 54 328 37886 8.61 0 NA NA NA NA NA NA PE1 3 +NX_Q8NEL9 Phospholipase DDHD1 900 100435 5.42 0 Cytoplasm Spastic paraplegia 28, autosomal recessive Phospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The different isoforms may change the substrate specificity (PubMed:22922100). Required for the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER) (PubMed:17428803). NA Belongs to the PA-PLA1 family. Synthesis of PA PE1 14 +NX_Q8NEM0 Microcephalin 835 92849 8.56 0 Nucleoplasm;Centrosome;Nucleus Microcephaly 1, primary, autosomal recessive Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex. NA NA Condensation of Prophase Chromosomes PE1 8 +NX_Q8NEM1 Zinc finger protein 680 530 61798 9.19 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_Q8NEM2 SHC SH2 domain-binding protein 1 672 75690 4.66 0 Nucleus;Spindle;Midbody;Cytoskeleton NA May play a role in signaling pathways governing cellular proliferation, cell growth and differentiation. May be a component of a novel signaling pathway downstream of Shc. Acts as a positive regulator of FGF signaling in neural progenitor cells. NA NA NA PE1 16 +NX_Q8NEM7 Transcription factor SPT20 homolog 779 85789 8.77 0 Nucleolus;Nucleus NA Required for MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) activation during gastrulation. Required for down-regulation of E-cadherin during gastrulation by regulating E-cadherin protein level downstream from NCK-interacting kinase (NIK) and independently of the regulation of transcription by FGF signaling and Snail (By similarity). Required for starvation-induced ATG9A trafficking during autophagy. NA Belongs to the SPT20 family. HATs acetylate histones PE1 13 +NX_Q8NEM8 Cytosolic carboxypeptidase 3 1001 116011 8.98 0 Cytosol;Nucleus speckle;Mitochondrion NA Metallocarboxypeptidase that mediates tubulin deglutamylation.;Metallocarboxypeptidase that mediates both deglutamylation and deaspartylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates or polyaspartates from the carboxy-terminus of target proteins such as MYLK. Does not show detyrosinase or deglycylase activities from the carboxy-terminus of tubulin. NA Belongs to the peptidase M14 family. Carboxyterminal post-translational modifications of tubulin PE2 7 +NX_Q8NEN0 Armadillo repeat-containing protein 2 867 96867 8.53 0 Cytoplasm;Nucleoplasm;Nucleus Spermatogenic failure 38 Required for sperm flagellum axoneme organization and function (By similarity). Involved in axonemal central pair complex assembly and/or stability (By similarity). NA NA NA PE1 6 +NX_Q8NEN9 PDZ domain-containing protein 8 1154 128563 5.78 1 Endoplasmic reticulum membrane;Nucleolus;Cell membrane NA Molecular tethering protein that connects endoplasmic reticulum and mitochondria membranes (PubMed:29097544). PDZD8-dependent endoplasmic reticulum-mitochondria membrane tethering is essential for endoplasmic reticulum-mitochondria Ca(2+) transfer (PubMed:29097544). In neurons, involved in the regulation of dendritic Ca(2+) dynamics by regulating mitochondrial Ca(2+) uptake in neurons (PubMed:29097544). Plays an indirect role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). May inhibit herpes simplex virus 1 infection at an early stage (PubMed:21549406). NA NA NA PE1 10 +NX_Q8NEP3 Dynein assembly factor 1, axonemal 725 80026 4.57 0 Cytoplasm;Nucleus speckle;Cell membrane;Cilium;Spindle pole;Cytosol Ciliary dyskinesia, primary, 13 Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli. NA Belongs to the DNAAF1 family. NA PE1 16 +NX_Q8NEP4 Uncharacterized protein C17orf47 570 63111 9.29 0 NA NA NA NA NA NA PE1 17 +NX_Q8NEP7 Kelch domain-containing protein 9 349 37754 8.71 0 Nucleoplasm;Nucleolus NA NA NA NA NA PE1 1 +NX_Q8NEP9 Zinc finger protein 555 628 73084 9.26 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8NEQ5 Transmembrane protein C1orf162 155 16886 9.05 1 Membrane NA NA NA NA NA PE1 1 +NX_Q8NEQ6 Steroid receptor-associated and regulated protein 169 17657 9.23 0 Nucleoplasm NA May regulate the transcriptional function of androgen and estrogen receptors. NA NA NA PE1 1 +NX_Q8NER1 Transient receptor potential cation channel subfamily V member 1 839 94956 6.9 6 Postsynaptic cell membrane;Endoplasmic reticulum;Dendritic spine membrane;Cell membrane NA Ligand-activated non-selective calcium permeant cation channel involved in detection of noxious chemical and thermal stimuli. Seems to mediate proton influx and may be involved in intracellular acidosis in nociceptive neurons. Involved in mediation of inflammatory pain and hyperalgesia. Sensitized by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases, which involves PKC isozymes and PCL. Activation by vanilloids, like capsaicin, and temperatures higher than 42 degrees Celsius, exhibits a time- and Ca(2+)-dependent outward rectification, followed by a long-lasting refractory state. Mild extracellular acidic pH (6.5) potentiates channel activation by noxious heat and vanilloids, whereas acidic conditions (pH <6) directly activate the channel. Can be activated by endogenous compounds, including 12-hydroperoxytetraenoic acid and bradykinin. Acts as ionotropic endocannabinoid receptor with central neuromodulatory effects. Triggers a form of long-term depression (TRPV1-LTD) mediated by the endocannabinoid anandamine in the hippocampus and nucleus accumbens by affecting AMPA receptors endocytosis. Phosphorylation by PKA reverses capsaicin-induced dephosphorylation at multiple sites, probably including Ser-117 as a major phosphorylation site. Phosphorylation by CAMKII seems to regulate binding to vanilloids. Phosphorylated and modulated by PRKCE, PRKCM and probably PRKCZ. Dephosphorylation by calcineurin seems to lead to receptor desensitization and phosphorylation by CAMKII recovers activity.;TRPV1 is phosphorylated by CDK5 Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV1 sub-subfamily. Neuroactive ligand-receptor interaction;TRP channels PE1 17 +NX_Q8NER5 Activin receptor type-1C 493 54871 8.22 1 Membrane NA Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and apoptosis. NA Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. TGF-beta signaling pathway;Signaling by NODAL;Signaling by Activin;Regulation of signaling by NODAL PE1 2 +NX_Q8NES3 Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe 379 41773 9.35 1 Golgi apparatus membrane Spondylocostal dysostosis 3, autosomal recessive Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity). Decreases the binding of JAG1 to NOTCH2 but not that of DLL1 (PubMed:11346656). Essential mediator of somite segmentation and patterning (By similarity). A soluble form may be derived from the membrane form by proteolytic processing. Belongs to the glycosyltransferase 31 family. Other types of O-glycan biosynthesis;Notch signaling pathway;Pre-NOTCH Processing in Golgi;Defective LFNG causes SCDO3 PE1 7 +NX_Q8NES8 Beta-defensin 124 71 8058 8.26 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE2 20 +NX_Q8NET1 Beta-defensin 108B 73 8326 8.65 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE2 11 +NX_Q8NET4 Retrotransposon Gag-like protein 9 1388 144280 5.81 0 NA NA NA NA NA NA PE1 X +NX_Q8NET5 NFAT activation molecule 1 270 29686 9.04 1 Cell membrane NA May function in immune system as a receptor which activates via the calcineurin/NFAT-signaling pathway the downstream cytokine gene promoters. Activates the transcription of IL-13 and TNF-alpha promoters. May be involved in the regulation of B-cell, but not T-cell, development. Overexpression activates downstream effectors without ligand binding or antibody cross-linking. N-glycosylated. NA Neutrophil degranulation PE1 22 +NX_Q8NET6 Carbohydrate sulfotransferase 13 341 38920 10.56 1 Golgi apparatus membrane NA Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Transfers sulfate to the C4 hydroxyl of beta1,4-linked GalNAc that is substituted with a beta-linked glucuronic acid at the C-3 hydroxyl. No activity toward dermatan. NA Belongs to the sulfotransferase 2 family. Glycosaminoglycan biosynthesis - chondroitin sulfate;Sulfur metabolism;Chondroitin sulfate biosynthesis PE1 3 +NX_Q8NET8 Transient receptor potential cation channel subfamily V member 3 790 90636 6.17 6 Membrane;Cytosol;Centrosome;Cell membrane Palmoplantar keratoderma, non-epidermolytic, focal 2;Olmsted syndrome Putative receptor-activated non-selective calcium permeant cation channel. It is activated by innocuous (warm) temperatures and shows an increased response at noxious temperatures greater than 39 degrees Celsius. Activation exhibits an outward rectification. May associate with TRPV1 and may modulate its activity. Is a negative regulator of hair growth and cycling: TRPV3-coupled signaling suppresses keratinocyte proliferation in hair follicles and induces apoptosis and premature hair follicle regression (catagen). NA Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV3 sub-subfamily. TRP channels PE1 17 +NX_Q8NEU8 DCC-interacting protein 13-beta 664 74493 4.87 0 Cytoplasm;Cell membrane;Endosome membrane;Phagosome membrane;Early endosome membrane;Phagosome;Ruffle;Ruffle membrane;Nucleus NA Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism (PubMed:26583432, PubMed:15016378, PubMed:24879834). Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex (PubMed:15016378). Plays a role in immune response by modulating phagocytosis, inflammatory and innate immune responses. In macrophages, enhances Fc-gamma receptor-mediated phagocytosis through interaction with RAB31 leading to activation of PI3K/Akt signaling. In response to LPS, modulates inflammatory responses by playing a key role on the regulation of TLR4 signaling and in the nuclear translocation of RELA/NF-kappa-B p65 and the secretion of pro- and anti-inflammatory cytokines. Also functions as a negative regulator of innate immune response via inhibition of AKT1 signaling pathway by forming a complex with APPL1 and PIK3R1 (By similarity). Plays a role in endosomal trafficking of TGFBR1 from the endosomes to the nucleus (PubMed:26583432). Plays a role in cell metabolism by regulating adiponecting ans insulin signaling pathways and adaptative thermogenesis (PubMed:24879834) (By similarity). In muscle, negatively regulates adiponectin-simulated glucose uptake and fatty acid oxidation by inhibiting adiponectin signaling pathway through APPL1 sequestration thereby antagonizing APPL1 action (By similarity). In muscles, negativeliy regulates insulin-induced plasma membrane recruitment of GLUT4 and glucose uptake through interaction with TBC1D1 (PubMed:24879834). Plays a role in cold and diet-induced adaptive thermogenesis by activating ventromedial hypothalamus (VMH) neurons throught AMPK inhibition which enhances sympathetic outflow to subcutaneous white adipose tissue (sWAT), sWAT beiging and cold tolerance (By similarity). Also plays a role in other signaling pathways namely Wnt/beta-catenin, HGF and glucocorticoid receptor signaling (PubMed:19433865) (By similarity). Positive regulator of beta-catenin/TCF-dependent transcription through direct interaction with RUVBL2/reptin resulting in the relief of RUVBL2-mediated repression of beta-catenin/TCF target genes by modulating the interactions within the beta-catenin-reptin-HDAC complex (PubMed:19433865). May affect adult neurogenesis in hippocampus and olfactory system via regulating the sensitivity of glucocorticoid receptor. Required for fibroblast migration through HGF cell signaling (By similarity). NA NA NA PE1 12 +NX_Q8NEV1 Casein kinase II subunit alpha 3 391 45220 8.54 0 NA NA Probable catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine. Amplification-dependent oncogene; promotes cell proliferation and tumorigenesis by down-regulating expression of the tumor suppressor protein, PML. May play a role in the pathogenesis of the lung cancer development and progression. NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CK2 subfamily. NA PE1 11 +NX_Q8NEV4 Myosin-IIIa 1616 186208 9.04 0 Cytoplasm;Filopodium tip;Cell membrane;Stereocilium;Cytosol;Cytoskeleton Deafness, autosomal recessive, 30 Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing (PubMed:12032315). Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments (By similarity). Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) In the N-terminal section; belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family.;In the C-terminal section; belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. NA PE1 10 +NX_Q8NEV8 Exophilin-5 1989 222519 7.98 0 NA Epidermolysis bullosa, non-specific, autosomal recessive May act as Rab effector protein and play a role in vesicle trafficking. NA NA NA PE1 11 +NX_Q8NEV9 Interleukin-27 subunit alpha 243 27493 6.18 0 Secreted NA Associates with EBI3 to form the IL-27 interleukin, a heterodimeric cytokine which functions in innate immunity. IL-27 has pro- and anti-inflammatory properties, that can regulate T-helper cell development, suppress T-cell proliferation, stimulate cytotoxic T-cell activity, induce isotype switching in B-cells, and that has diverse effects on innate immune cells. Among its target cells are CD4 T-helper cells which can differentiate in type 1 effector cells (TH1), type 2 effector cells (TH2) and IL17 producing helper T-cells (TH17). It drives rapid clonal expansion of naive but not memory CD4 T-cells. It also strongly synergizes with IL-12 to trigger interferon-gamma/IFN-gamma production of naive CD4 T-cells, binds to the cytokine receptor WSX-1/TCCR which appears to be required but not sufficient for IL-27-mediated signal transduction. IL-27 potentiate the early phase of TH1 response and suppress TH2 and TH17 differentiation. It induces the differentiation of TH1 cells via two distinct pathways, p38 MAPK/TBX21- and ICAM1/ITGAL/ERK-dependent pathways. It also induces STAT1, STAT3, STAT4 and STAT5 phosphorylation and activates TBX21/T-Bet via STAT1 with resulting IL12RB2 up-regulation, an event crucial to TH1 cell commitment. It suppresses the expression of GATA3, the inhibitor TH1 cells development. In CD8 T-cells, it activates STATs as well as GZMB. IL-27 reveals to be a potent inhibitor of TH17 cell development and of IL-17 production. Indeed IL27 alone is also able to inhibit the production of IL17 by CD4 and CD8 T-cells. While IL-27 suppressed the development of proinflammatory Th17 cells via STAT1, it inhibits the development of anti-inflammatory inducible regulatory T-cells, iTreg, independently of STAT1. IL-27 has also an effect on cytokine production, it suppresses proinflammatory cytokine production such as IL2, IL4, IL5 and IL6 and activates suppressors of cytokine signaling such as SOCS1 and SOCS3. Apart from suppression of cytokine production, IL-27 also antagonizes the effects of some cytokines such as IL6 through direct effects on T-cells. Another important role of IL-27 is its antitumor activity as well as its antiangiogenic activity with activation of production of antiangiogenic chemokines such as IP-10/CXCL10 and MIG/CXCL9. In vein endothelial cells, it induces IRF1/interferon regulatory factor 1 and increase the expression of MHC class II transactivator/CIITA with resulting up-regulation of major histocompatibility complex class II. IL-27 also demonstrates antiviral activity with inhibitory properties on HIV-1 replication. O-glycosylated. Belongs to the IL-6 superfamily. Interleukin-27 signaling PE1 16 +NX_Q8NEW0 Zinc transporter 7 376 41626 6.43 6 Golgi apparatus;trans-Golgi network membrane NA Seems to facilitate zinc transport from the cytoplasm into the Golgi apparatus. Partly regulates cellular zinc homeostasis. Required with ZNT5 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and the vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT5 and ZNT6 for the activation of TNAP (By similarity). NA Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. Insulin processing;Zinc efflux and compartmentalization by the SLC30 family PE1 1 +NX_Q8NEW7 Transmembrane inner ear expressed protein 156 17241 9.43 1 Membrane;Cytoplasmic vesicle;Cytosol Deafness, autosomal recessive, 6 Unknown. The protein may play some role in a cellular membrane location. May reside within an internal membrane compartment and function in pathways such as those involved in protein and/or vesicle trafficking. Alternatively, the mature protein may be localized in the plasma membrane and serve as a site of interaction for other molecules through its highly charged C-terminal domain. NA NA NA PE1 3 +NX_Q8NEX5 Protein WFDC9 89 10506 7.5 0 Secreted NA NA NA NA NA PE1 20 +NX_Q8NEX6 Protein WFDC11 87 10340 8.75 0 Secreted NA NA NA NA NA PE2 20 +NX_Q8NEX9 Short-chain dehydrogenase/reductase family 9C member 7 313 35263 9.26 0 Cytoplasm Ichthyosis, congenital, autosomal recessive 13 Displays weak conversion of all-trans-retinal to all-trans-retinol in the presence of NADH. Has apparently no steroid dehydrogenase activity. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. The canonical retinoid cycle in rods (twilight vision) PE1 12 +NX_Q8NEY1 Neuron navigator 1 1877 202472 8.2 0 Cytoskeleton NA May be involved in neuronal migration. NA Belongs to the Nav/unc-53 family. NA PE1 1 +NX_Q8NEY3 Spermatogenesis-associated protein 4 305 34751 9.86 0 Nucleus NA May play a role in apoptosis regulation. NA NA NA PE1 4 +NX_Q8NEY4 V-type proton ATPase subunit C 2 427 48759 5.82 0 Mitochondrion NA Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. NA Belongs to the V-ATPase C subunit family. Oxidative phosphorylation;Metabolic pathways;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE1 2 +NX_Q8NEY8 Periphilin-1 458 52737 9.15 0 Golgi apparatus;Cytoplasm;Chromosome;Nucleoplasm;Nucleus NA Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The HUSH complex is recruited to genomic loci rich in H3K9me3 and is probably required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3. In the HUSH complex, contributes to the maintenance of the complex at chromatin (PubMed:26022416). Acts as a transcriptional corepressor and regulates the cell cycle, probably via the HUSH complex (PubMed:15474462, PubMed:17963697). The HUSH complex is also involved in the silencing of unintegrated retroviral DNA: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed (PubMed:30487602). May be involved in epithelial differentiation by contributing to epidermal integrity and barrier formation (PubMed:12853457). Substrate of transglutaminase (in vitro). NA NA PE1 12 +NX_Q8NEZ2 Vacuolar protein sorting-associated protein 37A 397 44314 5.37 0 Late endosome membrane;Centrosome;Cytoplasmic vesicle;Cytosol;Nucleus Spastic paraplegia 53, autosomal recessive Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation. NA Belongs to the VPS37 family. Endocytosis;Budding and maturation of HIV virion;Membrane binding and targetting of GAG proteins;Endosomal Sorting Complex Required For Transport (ESCRT);Microautophagy PE1 8 +NX_Q8NEZ3 WD repeat-containing protein 19 1342 151581 5.94 0 Photoreceptor outer segment;Nucleoplasm;Cilium;Cilium basal body Short-rib thoracic dysplasia 5 with or without polydactyly;Senior-Loken syndrome 8;Cranioectodermal dysplasia 4;Nephronophthisis 13 As component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in cilia function and/or assembly (PubMed:20889716). Essential for functional IFT-A assembly and ciliary entry of GPCRs (PubMed:20889716). Associates with the BBSome complex to mediate ciliary transport (By similarity). NA NA Intraflagellar transport;Hedgehog 'off' state PE1 4 +NX_Q8NEZ4 Histone-lysine N-methyltransferase 2C 4911 541370 6.07 0 Nucleoplasm;Nucleus Kleefstra syndrome 2 Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. KMT2C/MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily. Lysine degradation;PKMTs methylate histone lysines;Activation of anterior HOX genes in hindbrain development during early embryogenesis;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 7 +NX_Q8NEZ5 F-box only protein 22 403 44508 6.61 0 Z line NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Promotes the proteasome-dependent degradation of key sarcomeric proteins, such as alpha-actinin (ACTN2) and filamin-C (FLNC), essential for maintenance of normal contractile function. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 15 +NX_Q8NF37 Lysophosphatidylcholine acyltransferase 1 534 59151 5.77 1 Endoplasmic reticulum;Golgi apparatus membrane;Endoplasmic reticulum membrane;Lipid droplet NA Possesses both acyltransferase and acetyltransferase activities (PubMed:16864775, PubMed:21498505). Activity is calcium-independent (By similarity). Mediates the conversion of 1-acyl-sn-glycero-3-phosphocholine (LPC) into phosphatidylcholine (PC) (PubMed:21498505). Displays a clear preference for saturated fatty acyl-CoAs, and 1-myristoyl or 1-palmitoyl LPC as acyl donors and acceptors, respectively (PubMed:16704971). May synthesize phosphatidylcholine in pulmonary surfactant, thereby playing a pivotal role in respiratory physiology (PubMed:16864775). Involved in the regulation of lipid droplet number and size (PubMed:25491198). NA Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. Lipid metabolism; phospholipid metabolism.;Glycerophospholipid metabolism;Ether lipid metabolism;Metabolic pathways;Synthesis of PC;Synthesis of PA;Acyl chain remodelling of PG;Acyl chain remodelling of PC;Neutrophil degranulation PE1 5 +NX_Q8NF50 Dedicator of cytokinesis protein 8 2099 238529 6.43 0 Cytoplasm;Mitochondrion;Cell membrane;Lamellipodium membrane;Nucleoplasm;Centrosome;Cytosol Mental retardation, autosomal dominant 2;Hyper-IgE recurrent infection syndrome 2, autosomal recessive Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP (PubMed:28028151, PubMed:22461490). During immune responses, required for interstitial dendritic cell (DC) migration by locally activating CDC42 at the leading edge membrane of DC (By similarity). Required for CD4(+) T-cell migration in response to chemokine stimulation by promoting CDC42 activation at T cell leading edge membrane (PubMed:28028151). Is involved in NK cell cytotoxicity by controlling polarization of microtubule-organizing center (MTOC), and possibly regulating CCDC88B-mediated lytic granule transport to MTOC during cell killing (PubMed:25762780). In response to chemokine CXCL12/SDF-1-alpha stimulation, phosphorylated by PRKCA/PKC-alpha which promotes DOCK8 dissociation from LRCH1. Belongs to the DOCK family. Factors involved in megakaryocyte development and platelet production PE1 9 +NX_Q8NF64 Zinc finger MIZ domain-containing protein 2 920 96537 6.68 0 Nucleoplasm;Mitochondrion;Nucleus NA Increases ligand-dependent transcriptional activity of AR and other nuclear hormone receptors. NA NA NA PE1 7 +NX_Q8NF67 Putative ankyrin repeat domain-containing protein 20A12 pseudogene 263 31171 5.19 0 NA NA NA NA NA NA PE5 1 +NX_Q8NF86 Serine protease 33 280 29787 10.03 0 Secreted NA Serine protease that has amidolytic activity, cleaving its substrates before Arg residues. NA Belongs to the peptidase S1 family. NA PE1 16 +NX_Q8NF91 Nesprin-1 8797 1011086 5.37 1 Golgi apparatus;Nucleus outer membrane;Nucleus membrane;Sarcomere;Nucleoplasm;Nucleus envelope;Nucleus;Cytoskeleton Spinocerebellar ataxia, autosomal recessive, 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus-centrosome attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenenis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette. The disulfid bond with SUN1 or SUN2 is required for stability of the respective LINC complex under tensile forces. Belongs to the nesprin family. Meiotic synapsis PE1 6 +NX_Q8NF99 Zinc finger protein 397 534 61139 6.93 0 Cytoplasm;Cell membrane;Nucleolus;Cytosol;Nucleus;Cytoskeleton NA Acts as a DNA-dependent transcriptional repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 18 +NX_Q8NFA0 Ubiquitin carboxyl-terminal hydrolase 32 1604 181656 6.01 0 Membrane;Golgi apparatus;Cytosol NA NA NA Belongs to the peptidase C19 family. NA PE1 17 +NX_Q8NFA2 NADPH oxidase organizer 1 376 41253 9.9 0 Cell membrane NA Constitutively potentiates the superoxide-generating activity of NOX1 and NOX3 and is required for the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity.;Is more potent than isoform 1 in activating NOX3. Together with NOXA1, may also substitute to NCF1/p47phox and NCF2/p67phox in supporting the phagocyte NOX2/gp91phox superoxide-generating activity. NA NA RHO GTPases Activate NADPH Oxidases PE1 16 +NX_Q8NFB2 Transmembrane protein 185A 350 40631 6.79 7 Membrane;Dendrite NA NA NA Belongs to the TMEM185 family. NA PE1 X +NX_Q8NFC6 Biorientation of chromosomes in cell division protein 1-like 1 3051 330466 5 0 Cytoplasm;Nucleoplasm;Chromosome NA Component of the fork protection machinery required to protect stalled/damaged replication forks from uncontrolled DNA2-dependent resection. Acts by stabilizing RAD51 at stalled replication forks and protecting RAD51 nucleofilaments from the antirecombinogenic activities of FBH1 and BLM (PubMed:26166705). Does not regulate spindle orientation (PubMed:26166705). NA Belongs to the BOD1 family. NA PE1 4 +NX_Q8NFD2 Ankyrin repeat and protein kinase domain-containing protein 1 765 84632 6.6 0 NA NA NA NA Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. NA PE2 11 +NX_Q8NFD4 Uncharacterized protein FLJ76381 153 16997 11.11 0 NA NA NA NA NA NA PE2 9 +NX_Q8NFD5 AT-rich interactive domain-containing protein 1B 2236 236123 6.26 0 Nucleoplasm;Nucleolus;Nucleus Coffin-Siris syndrome 1 Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Binds DNA non-specifically (PubMed:14982958, PubMed:15170388). NA NA RMTs methylate histone arginines;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 6 +NX_Q8NFF2 Sodium/potassium/calcium exchanger 4 622 69042 7.48 10 Cytoplasm;Cell membrane Amelogenesis imperfecta, hypomaturation type, 2A5 Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). Controls the rapid response termination and proper regulation of adaptation in olfactory sensory neurons (OSNs) which subsequently influences how odor information is encoded and perceived. May play a role in calcium transport during amelogenesis (By similarity). NA Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily. Sodium/Calcium exchangers;Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) PE1 14 +NX_Q8NFF5 FAD synthase 587 65266 6.49 0 Cytoplasm;Mitochondrion matrix;Cell membrane;Cytosol Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. NA In the N-terminal section; belongs to the MoaB/Mog family.;In the C-terminal section; belongs to the PAPS reductase family. FAD1 subfamily. Cofactor biosynthesis; FAD biosynthesis; FAD from FMN: step 1/1.;Riboflavin metabolism;Metabolic pathways;Vitamin B2 (riboflavin) metabolism PE1 1 +NX_Q8NFG4 Folliculin 579 64473 5.83 0 Cytoplasm;Cytosol;Nucleus;Cell membrane Birt-Hogg-Dube syndrome;Renal cell carcinoma;Primary spontaneous pneumothorax May be a tumor suppressor. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1. Phosphorylated. Several different phosphorylated forms exist. Belongs to the folliculin family. Renal cell carcinoma PE1 17 +NX_Q8NFH3 Nucleoporin Nup43 380 42151 5.31 0 Kinetochore;Nuclear pore complex NA Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. NA NA RNA transport;Separation of Sister Chromatids;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 6 +NX_Q8NFH4 Nucleoporin Nup37 326 36708 5.55 0 Nucleoplasm;Kinetochore;Nuclear pore complex Microcephaly 24, primary, autosomal recessive Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. NA NA RNA transport;Separation of Sister Chromatids;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 12 +NX_Q8NFH5 Nucleoporin NUP35 326 34774 9.15 0 Nucleoplasm;Cell membrane;Nucleus membrane;Nuclear pore complex NA Functions as a component of the nuclear pore complex (NPC). NPC components, collectively referred to as nucleoporins (NUPs), can play the role of both NPC structural components and of docking or interaction partners for transiently associated nuclear transport factors. May play a role in the association of MAD1 with the NPC. NA Belongs to the Nup35 family. RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 2 +NX_Q8NFH8 RalBP1-associated Eps domain-containing protein 2 660 71534 7.56 0 Cytoplasm NA Involved in growth factor signaling through its influence on the Ral signaling pathway. EGF stimulates phosphorylation on Tyr-residues and induces complex formation with EGF receptor through an adapter protein such as GRB2. NA Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 X +NX_Q8NFI3 Cytosolic endo-beta-N-acetylglucosaminidase 743 83987 6.34 0 Cytosol;Centrosome NA Endoglycosidase that releases N-glycans from glycoproteins by cleaving the beta-1,4-glycosidic bond in the N,N'-diacetylchitobiose core. Involved in the processing of free oligosaccharides in the cytosol. NA Belongs to the glycosyl hydrolase 85 family. Other glycan degradation;N-glycan trimming in the ER and Calnexin/Calreticulin cycle PE1 17 +NX_Q8NFI4 Putative protein FAM10A5 369 41378 4.96 0 Cytoplasm NA NA NA Belongs to the FAM10 family. NA PE5 11 +NX_Q8NFJ5 Retinoic acid-induced protein 3 357 40251 8.39 7 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Cell membrane NA Orphan receptor. Could be involved in modulating differentiation and maintaining homeostasis of epithelial cells. This retinoic acid-inducible GPCR provide evidence for a possible interaction between retinoid and G-protein signaling pathways. Functions as a negative modulator of EGFR signaling (By similarity). May act as a lung tumor suppressor (PubMed:18000218). Phosphorylated in two conserved double-tyrosine motifs, TYR-317/TYR-320 and TYR-347/TYR-350, by EGFR; leading to inactivation of the tumor suppressive function of GPRC5A in lung cancer cells. TYR-317 and TYR-320 are the preferred residues responsible for EGFR-mediated GPRC5A phosphorylation. Belongs to the G-protein coupled receptor 3 family. NA PE1 12 +NX_Q8NFJ6 Prokineticin receptor 2 384 43996 9.04 7 Cell membrane Hypogonadotropic hypogonadism 3 with or without anosmia Receptor for prokineticin 2. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase. NA Belongs to the G-protein coupled receptor 1 family. Peptide ligand-binding receptors;G alpha (q) signalling events PE1 20 +NX_Q8NFJ8 Class E basic helix-loop-helix protein 22 381 36997 7.04 0 Nucleus NA Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strong repressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors. Despite the presence of an intact basic domain, does not bind to DNA (By similarity). In the brain, may function as an area-specific transcription factor that regulates the postmitotic acquisition of area identities and elucidate the genetic hierarchy between progenitors and postmitotic neurons driving neocortical arealization. May be required for the survival of a specific population of inhibitory neurons in the superficial laminae of the spinal chord dorsal horn that may regulate pruritis. Seems to play a crucial role in the retinogenesis, in the specification of amacrine and bipolar subtypes. Forms with PRDM8 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation. NA NA NA PE1 8 +NX_Q8NFJ9 Bardet-Biedl syndrome 1 protein 593 65083 8.02 0 Cilium membrane;Cytoplasm;Centriolar satellite;Midbody Bardet-Biedl syndrome 1 The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization (PubMed:17574030, PubMed:22072986). Plays a role in olfactory cilium biogenesis/maintenance and trafficking (By similarity). NA NA BBSome-mediated cargo-targeting to cilium PE1 11 +NX_Q8NFK1 Gap junction gamma-3 protein 279 31299 9.35 4 Gap junction;Cell membrane NA One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. NA Belongs to the connexin family. Gamma-type subfamily. NA PE1 7 +NX_Q8NFL0 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 401 45987 9.2 1 Golgi apparatus membrane NA May be involved in keratane sulfate biosynthesis. Transfers N-acetylgalactosamine on to keratan sulfate-related glycans. May play a role in preventing cells from migrating out of the original tissues and invading surrounding tissues. NA Belongs to the glycosyltransferase 31 family. Protein modification; protein glycosylation.;Glycosaminoglycan biosynthesis - keratan sulfate;O-linked glycosylation of mucins;Keratan sulfate biosynthesis PE1 2 +NX_Q8NFM4 Adenylate cyclase type 4 1077 119794 7.31 12 Cytoplasm;Cell membrane NA Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. NA Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Calcium signaling pathway;Chemokine signaling pathway;Oocyte meiosis;Vascular smooth muscle contraction;Gap junction;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Taste transduction;GnRH signaling pathway;Progesterone-mediated oocyte maturation;Melanogenesis;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Bile secretion;HTLV-I infection;Dilated cardiomyopathy;G alpha (i) signalling events;G alpha (s) signalling events;Hedgehog 'off' state;PKA activation;PKA activation in glucagon signalling;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G alpha (z) signalling events;Adenylate cyclase activating pathway;Adenylate cyclase inhibitory pathway PE1 14 +NX_Q8NFM7 Interleukin-17 receptor D 739 82411 6.78 1 Golgi apparatus;Cytoplasm;Cell membrane;Nucleoplasm;Golgi apparatus membrane Hypogonadotropic hypogonadism 18 with or without anosmia Feedback inhibitor of fibroblast growth factor mediated Ras-MAPK signaling and ERK activation. May inhibit FGF-induced FGFR1 tyrosine phosphorylation. Regulates the nuclear ERK signaling pathway by spatially blocking nuclear translocation of activated ERK without inhibiting cytoplasmic phosphorylation of ERK. Mediates JNK activation and may be involved in apoptosis. Might have a role in the early stages of fate specification of GnRH-secreting neurons (By similarity). NA NA MAP2K and MAPK activation PE1 3 +NX_Q8NFN8 Probable G-protein coupled receptor 156 814 89097 7.74 7 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 3 family. GABA-B receptor subfamily. Neuroactive ligand-receptor interaction PE2 3 +NX_Q8NFP0 Peroxisomal testis-specific protein 1 134 16023 9.17 0 Peroxisome NA NA NA NA NA PE2 6 +NX_Q8NFP4 MAM domain-containing glycosylphosphatidylinositol anchor protein 1 955 105790 8.65 0 Golgi apparatus;Cell membrane NA Required for radial migration of cortical neurons in the superficial layer of the neocortex (By similarity). Plays a role in the formation or maintenance of inhibitory synapses. May function by inhibiting the activity of NLGN2. NA NA Post-translational modification: synthesis of GPI-anchored proteins PE1 6 +NX_Q8NFP7 Diphosphoinositol polyphosphate phosphohydrolase 3-alpha 164 18500 5.52 0 Cytoplasm NA Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able to hydrolyze 5-phosphoribose 1-diphosphate. NA Belongs to the Nudix hydrolase family. DIPP subfamily. Synthesis of pyrophosphates in the cytosol PE1 X +NX_Q8NFP9 Neurobeachin 2946 327822 5.78 0 Cytoplasm;Golgi apparatus;Nucleolus;Membrane;Nucleoplasm;Cytosol NA Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity). NA Belongs to the WD repeat neurobeachin family. NA PE1 13 +NX_Q8NFQ5 BPI fold-containing family B member 6 453 49717 8.97 0 Secreted NA NA NA Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. Antimicrobial peptides PE1 20 +NX_Q8NFQ6 BPI fold-containing family C protein 507 56469 5.56 0 Secreted NA NA NA Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. NA PE1 22 +NX_Q8NFQ8 Torsin-1A-interacting protein 2 470 51263 4.84 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus membrane NA Required for endoplasmic reticulum integrity. Regulates the distribution of TOR1A between the endoplasmic reticulum and the nuclear envelope as well as induces TOR1A, TOR1B and TOR3A ATPase activity. NA Belongs to the TOR1AIP family. NA PE1 1 +NX_Q8NFR3 Serine palmitoyltransferase small subunit B 76 9198 7.72 2 Endoplasmic reticulum membrane NA Stimulates the activity of serine palmitoyltransferase (SPT). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference, complexes with this subunit showing a clear preference for longer acyl-CoAs. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference. May play a role in signal transduction. NA Belongs to the SPTSS family. SPTSSB subfamily. Lipid metabolism; sphingolipid metabolism.;Sphingolipid de novo biosynthesis PE1 3 +NX_Q8NFR7 Coiled-coil domain-containing protein 148 591 71076 9 0 Nucleoplasm;Nucleolus NA NA NA NA NA PE1 2 +NX_Q8NFR9 Interleukin-17 receptor E 667 74810 9.43 1 Cytoplasm;Secreted;Cell membrane NA Specific functional receptor for IL17C. May be signaling through the NF-kappa-B and MAPK pathways. May require TRAF3IP2 /ACT1 for signaling. May be a crucial regulator in innate immunity to bacterial pathogens.;May act as soluble decoy receptors.;May be either cytoplasmic inactive or dominant active forms. NA NA Interleukin-17 signaling PE1 3 +NX_Q8NFT2 Metalloreductase STEAP2 490 56056 9.28 6 Cytoplasmic vesicle;Cell membrane;Endosome membrane NA Metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+). Uses NAD(+) as acceptor (By similarity). NA Belongs to the STEAP family. Mineral absorption;Transferrin endocytosis and recycling PE1 7 +NX_Q8NFT6 Protein DBF4 homolog B 615 67243 8.72 0 Nucleoplasm;Nucleus NA Regulatory subunit for CDC7 which activates its kinase activity thereby playing a central role in DNA replication and cell proliferation. Required for progression of S and M phases. The complex CDC7-DBF4B selectively phosphorylates MCM2 subunit at 'Ser-40' and then is involved in regulating the initiation of DNA replication during cell cycle. Phosphorylated. NA NA PE1 17 +NX_Q8NFT8 Delta and Notch-like epidermal growth factor-related receptor 737 78475 5.03 1 Cell membrane NA Activator of the NOTCH1 pathway. May mediate neuron-glia interaction during astrocytogenesis (By similarity). NA NA Activated NOTCH1 Transmits Signal to the Nucleus PE1 2 +NX_Q8NFU0 Bestrophin-4 473 53497 5.81 4 Cell membrane NA Forms calcium-sensitive chloride channels. Permeable to bicarbonate. NA Belongs to the bestrophin family. Stimuli-sensing channels PE1 1 +NX_Q8NFU1 Bestrophin-2 509 57139 5.11 4 Cell membrane NA Forms calcium-sensitive chloride channels. Permeable to bicarbonate. NA Belongs to the bestrophin family. Salivary secretion;Stimuli-sensing channels PE1 19 +NX_Q8NFU3 Thiosulfate:glutathione sulfurtransferase 115 12530 5.85 0 Cytosol;Perinuclear region NA Thiosulfate:glutathione sulfurtransferase (TST) required to produce S-sulfanylglutathione (GSS(-)), a central intermediate in hydrogen sulfide metabolism (PubMed:24981631). Provides the link between the first step in mammalian H(2)S metabolism performed by the sulfide:quinone oxidoreductase (SQOR) which catalyzes the conversion of H(2)S to thiosulfate, and the sulfur dioxygenase (SDO) which uses GSS(-) as substrate (PubMed:24981631). The thermodynamic coupling of the irreversible SDO and reversible TST reactions provides a model for the physiologically relevant reaction with thiosulfate as the sulfane donor (PubMed:24981631). NA NA Sulfide oxidation to sulfate PE1 1 +NX_Q8NFU4 Follicular dendritic cell secreted peptide 85 9700 9.3 0 Secreted NA Can bind to the surface of B-lymphoma cells, but not T-lymphoma cells, consistent with a function as a secreted mediator acting upon B-cells. O-glycosylated with core 1 or possibly core 8 glycans. NA NA PE1 4 +NX_Q8NFU5 Inositol polyphosphate multikinase 416 47222 7.27 0 Nucleoplasm;Nucleus NA Inositol phosphate kinase with a broad substrate specificity (PubMed:12027805, PubMed:12223481, PubMed:28882892, PubMed:30420721, PubMed:30624931). Phosphorylates inositol 1,4,5-trisphosphate (Ins(1,4,5)P3) first to inositol 1,3,4,5-tetrakisphosphate and then to inositol 1,3,4,5,6-pentakisphosphate (Ins(1,3,4,5,6)P5) (PubMed:12027805, PubMed:12223481, PubMed:28882892, PubMed:30624931). Phosphorylates inositol 1,3,4,6-tetrakisphosphate (Ins(1,3,4,6)P4) (PubMed:12223481). Phosphorylates glycero-3-phospho-1D-myo-inositol 4,5-bisphosphate to glycero-3-phospho-1D-myo-inositol 3,4,5-trisphosphate (PubMed:30420721, PubMed:28882892). Plays an important role in MLKL-mediated necroptosis via its role in the biosynthesis of inositol pentakisphosphate (InsP5) and inositol hexakisphosphate (InsP6). Binding of these highly phosphorylated inositol phosphates to MLKL mediates the release of an N-terminal auto-inhibitory region, leading to activation of the kinase. Essential for activated phospho-MLKL to oligomerize and localize to the cell membrane during necroptosis (PubMed:29883610). Required for normal embryonic development, probably via its role in the biosynthesis of inositol 1,3,4,5,6-pentakisphosphate (Ins(1,3,4,5,6)P5) and inositol hexakisphosphate (InsP6) (By similarity). NA Belongs to the inositol phosphokinase (IPK) family. Phospholipid metabolism; phosphatidylinositol metabolism.;Inositol phosphate metabolism;Synthesis of IPs in the nucleus PE1 10 +NX_Q8NFU7 Methylcytosine dioxygenase TET1 2136 235309 8.53 0 Nucleoplasm;Nucleus membrane;Nucleus NA Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome which plays an important role in transcriptional regulation. In addition to its role in DNA demethylation, plays a more general role in chromatin regulation. Preferentially binds to CpG-rich sequences at promoters of both transcriptionally active and Polycomb-repressed genes. Involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT. Also involved in transcription repression of a subset of genes through recruitment of transcriptional repressors to promoters. Involved in the balance between pluripotency and lineage commitment of cells it plays a role in embryonic stem cells maintenance and inner cell mass cell specification. Plays an important role in the tumorigenicity of glioblastoma cells. TET1-mediated production of 5hmC acts as a recruitment signal for the CHTOP-methylosome complex to selective sites on the chromosome, where it methylates H4R3 and activates the transcription of genes involved in glioblastomagenesis (PubMed:25284789). Glycosylated. Interaction with OGT leads to GlcNAcylation (By similarity). Belongs to the TET family. TET1,2,3 and TDG demethylate DNA PE1 10 +NX_Q8NFV4 Protein ABHD11 315 34690 9.5 0 Mitochondrion NA NA NA Belongs to the AB hydrolase superfamily. NA PE1 7 +NX_Q8NFV5 Speedy protein E1 336 40668 9.52 0 NA NA NA NA Belongs to the Speedy/Ringo family. NA PE2 7 +NX_Q8NFW1 Collagen alpha-1(XXII) chain 1626 161145 6.88 0 Endoplasmic reticulum;Cytoplasm;Extracellular matrix;Cytoplasmic vesicle NA Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts. NA Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. Collagen biosynthesis and modifying enzymes;Collagen chain trimerization PE1 8 +NX_Q8NFW5 Diencephalon/mesencephalon homeobox protein 1 382 41198 8.76 0 Nucleus NA Functions as a transcriptional repressor. May repress OTX2-mediated transactivation by forming a heterodimer with OTX2 on the P3C (5'-TAATCCGATTA-3') sequence. Required for brain development (By similarity). NA Belongs to the paired homeobox family. NA PE1 1 +NX_Q8NFW8 N-acylneuraminate cytidylyltransferase 434 48379 8.16 0 Nucleolus;Cytosol;Nucleus NA Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN). NA Belongs to the CMP-NeuNAc synthase family. Amino-sugar metabolism; N-acetylneuraminate metabolism.;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Sialic acid metabolism PE1 12 +NX_Q8NFW9 Rab effector MyRIP 859 95706 5.44 0 Golgi apparatus;Cytoplasm;Nucleolus;Nucleoplasm;Perinuclear region;Secretory vesicle NA Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor proteins MYO5A and MYO7A. May link RAB27A-containing vesicles to actin filaments. Functions as a protein kinase A-anchoring protein (AKAP). May act as a scaffolding protein that links PKA to components of the exocytosis machinery, thus facilitating exocytosis, including insulin release (By similarity). NA NA Insulin processing PE1 3 +NX_Q8NFX7 Syntaxin-binding protein 6 210 23554 9.19 0 Membrane;Cytoplasm NA Forms non-fusogenic complexes with SNAP25 and STX1A and may thereby modulate the formation of functional SNARE complexes and exocytosis. NA NA NA PE1 14 +NX_Q8NFY4 Semaphorin-6D 1073 119872 8.77 1 Golgi apparatus;Cytoplasm;Cell membrane NA Shows growth cone collapsing activity on dorsal root ganglion (DRG) neurons in vitro. May be a stop signal for the DRG neurons in their target areas, and possibly also for other neurons. May also be involved in the maintenance and remodeling of neuronal connections. NA Belongs to the semaphorin family. Axon guidance;Other semaphorin interactions PE1 15 +NX_Q8NFY9 Kelch repeat and BTB domain-containing protein 8 601 68823 5.88 0 Golgi apparatus;Spindle NA Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of neural crest specification (PubMed:26399832). The BCR(KBTBD8) complex acts by mediating monoubiquitination of NOLC1 and TCOF1: monoubiquitination promotes the formation of a NOLC1-TCOF1 complex that acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). NA Belongs to the KBTBD8 family. Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 3 +NX_Q8NFZ0 F-box DNA helicase 1 1043 117686 8.58 0 Nucleus;Chromosome NA 3'-5' DNA helicase and substrate-recognition component of the SCF(FBH1) E3 ubiquitin ligase complex that plays a key role in response to stalled/damaged replication forks (PubMed:11956208, PubMed:23393192). Involved in genome maintenance by acting as an anti-recombinogenic helicase and preventing extensive strand exchange during homologous recombination: promotes RAD51 filament dissolution from stalled forks, thereby inhibiting homologous recombination and preventing excessive recombination (PubMed:17724085, PubMed:19736316). Also promotes cell death and DNA double-strand breakage in response to replication stress: together with MUS81, promotes the endonucleolytic DNA cleavage following prolonged replication stress via its helicase activity, possibly to eliminate cells with excessive replication stress (PubMed:23319600, PubMed:23361013). Plays a major role in remodeling of stalled DNA forks by catalyzing fork regression, in which the fork reverses and the two nascent DNA strands anneal (PubMed:25772361). In addition to the helicase activity, also acts as the substrate-recognition component of the SCF(FBH1) E3 ubiquitin ligase complex, a complex that mediates ubiquitination of RAD51, leading to regulate RAD51 subcellular location (PubMed:25585578). Ubiquitinated (PubMed:23393192, PubMed:23677613). Ubiquitination by the DCX(DTL) complex, also named CRL4(CDT2), leading to its degradation: ubiquitination takes place after its localization to DNA damage sites, possibly to facilitate the translesion synthesis (TLS) pathway (PubMed:23677613). Belongs to the helicase family. UvrD subfamily. Protein modification; protein ubiquitination. PE1 10 +NX_Q8NFZ3 Neuroligin-4, Y-linked 816 92021 5.77 1 Postsynaptic density;Cell membrane NA Putative neuronal cell surface protein involved in cell-cell-interactions. NA Belongs to the type-B carboxylesterase/lipase family. Neurexins and neuroligins PE2 Y +NX_Q8NFZ4 Neuroligin-2 835 90820 5.78 1 Postsynaptic cell membrane;Mitochondrion;Presynaptic cell membrane;Cell membrane NA Transmembrane scaffolding protein involved in cell-cell interactions via its interactions with neurexin family members. Mediates cell-cell interactions both in neurons and in other types of cells, such as Langerhans beta cells. Plays a role in synapse function and synaptic signal transmission, especially via gamma-aminobutyric acid receptors (GABA(A) receptors). Functions by recruiting and clustering synaptic proteins. Promotes clustering of postsynaptic GABRG2 and GPHN. Promotes clustering of postsynaptic LHFPL4 (By similarity). Modulates signaling by inhibitory synapses, and thereby plays a role in controlling the ratio of signaling by excitatory and inhibitory synapses and information processing. Required for normal signal amplitude from inhibitory synapses, but is not essential for normal signal frequency. May promote the initial formation of synapses, but is not essential for this. In vitro, triggers the de novo formation of presynaptic structures. Mediates cell-cell interactions between Langerhans beta cells and modulates insulin secretion (By similarity). NA Belongs to the type-B carboxylesterase/lipase family. Cell adhesion molecules (CAMs);Neurexins and neuroligins PE1 17 +NX_Q8NFZ5 TNFAIP3-interacting protein 2 429 48700 6.03 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Inhibits NF-kappa-B activation by blocking the interaction of RIPK1 with its downstream effector NEMO/IKBKG. Forms a ternary complex with NFKB1 and MAP3K8 but appears to function upstream of MAP3K8 in the TLR4 signaling pathway that regulates MAP3K8 activation. Involved in activation of the MEK/ERK signaling pathway during innate immune response; this function seems to be stimulus- and cell type specific. Required for stability of MAP3K8. Involved in regulation of apoptosis in endothelial cells; promotes TEK agonist-stimulated endothelial survival. May act as transcriptional coactivator when translocated to the nucleus. Enhances CHUK-mediated NF-kappa-B activation involving NF-kappa-B p50-p65 and p50-c-Rel complexes. In vitro phosphorylated by CHUK.;Ubiquitinated; undergoes 'Lys-48'-linked polyubiquitination probably leading to constitutive proteasomal degradation which can be impaired by IKK-A/CHUK or IKBKB probably involving deubiquitination. NA MAP3K8 (TPL2)-dependent MAPK1/3 activation;Ovarian tumor domain proteases PE1 4 +NX_Q8NFZ6 Vomeronasal type-1 receptor 2 395 44476 9.52 8 Cell membrane NA Putative pheromone receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 19 +NX_Q8NFZ8 Cell adhesion molecule 4 388 42785 5.92 1 Membrane;Nucleoplasm;Nucleus membrane NA Involved in the cell-cell adhesion. Has calcium- and magnesium-independent cell-cell adhesion activity. May have tumor-suppressor activity. N-glycosylated. Belongs to the nectin family. NA PE1 19 +NX_Q8NG04 Solute carrier family 26 member 10 563 60059 8.6 5 Membrane NA Chloride/bicarbonate exchanger. NA Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. NA PE2 12 +NX_Q8NG06 E3 ubiquitin-protein ligase TRIM58 486 54766 5.87 0 NA NA E3 ubiquitin ligase induced during late erythropoiesis. Directly binds and ubiquitinates the intermediate chain of the microtubule motor dynein (DYNC1LI1/DYNC1LI2), stimulating the degradation of the dynein holoprotein complex. May participate in the erythroblast enucleation process through regulation of nuclear polarization. NA Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination. PE1 1 +NX_Q8NG08 DNA helicase B 1087 123252 5.59 0 Cytoplasm;Nucleus;Chromosome NA 5'-3' DNA helicase involved in DNA damage response by acting as an inhibitor of DNA end resection (PubMed:25617833, PubMed:26774285). Recruitment to single-stranded DNA (ssDNA) following DNA damage leads to inhibit the nucleases catalyzing resection, such as EXO1, BLM and DNA2, possibly via the 5'-3' ssDNA translocase activity of HELB (PubMed:26774285). As cells approach S phase, DNA end resection is promoted by the nuclear export of HELB following phosphorylation (PubMed:26774285). Acts independently of TP53BP1 (PubMed:26774285). Unwinds duplex DNA with 5'-3' polarity. Has single-strand DNA-dependent ATPase and DNA helicase activities. Prefers ATP and dATP as substrates (PubMed:12181327). During S phase, may facilitate cellular recovery from replication stress (PubMed:22194613). Phosphorylated at Ser-967 by CDK2 during the G1/S transition, resulting in its nuclear export into the cytoplasm (PubMed:15146062, PubMed:26774285). As S phase progresses, its exclusion from the nucleus promotes the activation of long-range resection (PubMed:26774285). Belongs to the RecD family. HELB subfamily. NA PE1 12 +NX_Q8NG11 Tetraspanin-14 270 30691 6.41 4 Cytoplasmic vesicle;Cell membrane NA Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10 (PubMed:26668317, PubMed:23035126, PubMed:26686862). Negatively regulates ADAM10-mediated cleavage of GP6 (By similarity). Promotes ADAM10-mediated cleavage of CDH5 (By similarity). NA Belongs to the tetraspanin (TM4SF) family. Amyloid fiber formation;Neutrophil degranulation PE1 10 +NX_Q8NG27 E3 ubiquitin-protein ligase Praja-1 643 71002 5.05 0 Nucleoplasm;Nucleolus NA Has E2-dependent E3 ubiquitin-protein ligase activity. Ubiquitinates MAGED1 antigen leading to its subsequent degradation by proteasome (By similarity). May be involved in protein sorting. Substrate for E2-dependent ubiquitination. NA Antigen processing: Ubiquitination & Proteasome degradation PE1 X +NX_Q8NG31 Kinetochore scaffold 1 2342 265391 5.3 0 Nucleoplasm;Nucleus;Kinetochore Microcephaly 4, primary, autosomal recessive Performs two crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Required for attachment of the kinetochores to the spindle microtubules. Directly links BUB1 and BUB1B to kinetochores. Part of the MIS12 complex, which may be fundamental for kinetochore formation and proper chromosome segregation during mitosis. Acts in coordination with CENPK to recruit the NDC80 complex to the outer kinetochore. NA NA Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Deposition of new CENPA-containing nucleosomes at the centromere;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 15 +NX_Q8NG35 Beta-defensin 105 78 8923 8.71 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE1 8 +NX_Q8NG41 Neuropeptide B 125 13097 9.97 0 Secreted NA May be involved in the regulation of feeding, neuroendocrine system, memory, learning and in the afferent pain pathway. NA Belongs to the neuropeptide B/W family. G alpha (i) signalling events;Peptide ligand-binding receptors PE1 17 +NX_Q8NG48 Protein Lines homolog 1 757 85857 6.07 0 Nucleoplasm Mental retardation, autosomal recessive 27 NA NA Belongs to the protein lines family. NA PE1 15 +NX_Q8NG50 RAD52 motif-containing protein 1 284 31970 5.75 0 Cajal body;Cytoplasm;Nucleolus;PML body;Cytosol;Nucleus NA May confer resistance to the antitumor agent cisplatin. Binds to DNA and RNA. NA NA NA PE1 17 +NX_Q8NG57 Elongin-A3 546 59744 9.86 0 Nucleus NA SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A3 is transcriptionally active but its transcription activity is not enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex). NA NA Formation of RNA Pol II elongation complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;TP53 Regulates Transcription of DNA Repair Genes PE1 18 +NX_Q8NG66 Serine/threonine-protein kinase Nek11 645 74192 5 0 Nucleoplasm;Nucleus;Nucleolus NA Protein kinase which plays an important role in the G2/M checkpoint response to DNA damage. Controls degradation of CDC25A by directly phosphorylating it on residues whose phosphorylation is required for BTRC-mediated polyubiquitination and degradation. Phosphorylated by NEK2. Phosphorylation at Ser-273 is important for its activation.;NEK11 is phosphorylated by NEK2 Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. NA PE1 3 +NX_Q8NG68 Tubulin--tyrosine ligase 377 43212 6.28 0 Nucleoplasm;Cytoplasmic vesicle NA Catalyzes the post-translational addition of a tyrosine to the C-terminal end of detyrosinated alpha-tubulin. NA Belongs to the tubulin--tyrosine ligase family. Carboxyterminal post-translational modifications of tubulin PE1 2 +NX_Q8NG75 Olfactory receptor 5T1 326 36885 7.57 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NG76 Olfactory receptor 2T33 320 35876 8.91 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NG77 Olfactory receptor 2T12 320 35946 8.96 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NG78 Olfactory receptor 8G5 346 38798 8.65 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NG80 Olfactory receptor 2L5 312 35648 8.87 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 1 +NX_Q8NG81 Olfactory receptor 2M7 312 34902 7.52 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NG83 Olfactory receptor 2M3 312 34827 8.45 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NG84 Olfactory receptor 2AK2 335 37763 9.23 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NG85 Olfactory receptor 2L3 312 35282 8.96 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NG92 Olfactory receptor 13H1 308 34570 9.25 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 X +NX_Q8NG94 Olfactory receptor 11H1 326 36578 8.35 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 22 +NX_Q8NG95 Olfactory receptor 7G3 312 34439 8.53 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 19 +NX_Q8NG97 Olfactory receptor 2Z1 314 34444 7.57 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 19 +NX_Q8NG98 Olfactory receptor 7D4 312 34448 7.05 7 Cell membrane NA Odorant receptor. Selectively activated by androstenone and the related odorous steroid androstadienone. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 19 +NX_Q8NG99 Olfactory receptor 7G2 324 35931 8.51 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 19 +NX_Q8NGA0 Olfactory receptor 7G1 311 34803 8.77 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 19 +NX_Q8NGA1 Olfactory receptor 1M1 313 34840 9.18 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 19 +NX_Q8NGA2 Putative olfactory receptor 7A2 310 34430 6.42 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 19 +NX_Q8NGA4 Putative G-protein coupled receptor GPR32P1 272 30291 9.49 5 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE5 19 +NX_Q8NGA5 Olfactory receptor 10H4 316 35765 8.92 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 19 +NX_Q8NGA6 Olfactory receptor 10H5 315 34900 8.92 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 19 +NX_Q8NGA8 Olfactory receptor 4F17 305 34212 8.69 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 19 +NX_Q8NGB2 Olfactory receptor 4C5 326 36862 6.57 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 11 +NX_Q8NGB4 Olfactory receptor 4S1 309 34800 9 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGB6 Olfactory receptor 4M2 313 35416 7.48 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 15 +NX_Q8NGB8 Olfactory receptor 4F15 312 35369 8.84 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 15 +NX_Q8NGB9 Olfactory receptor 4F6 312 35355 8.88 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 15 +NX_Q8NGC0 Olfactory receptor 5AU1 362 40658 9.24 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 14 +NX_Q8NGC1 Olfactory receptor 11G2 345 38871 9.47 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 14 +NX_Q8NGC2 Olfactory receptor 4E2 313 35466 8.26 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 14 +NX_Q8NGC3 Olfactory receptor 10G2 310 34472 9.04 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 14 +NX_Q8NGC4 Olfactory receptor 10G3 313 35055 9.17 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 14 +NX_Q8NGC5 Olfactory receptor 6J1 347 38693 8.84 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 14 +NX_Q8NGC6 Olfactory receptor 4K17 315 35312 8.97 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 14 +NX_Q8NGC7 Olfactory receptor 11H6 330 36788 8.59 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 14 +NX_Q8NGC8 Olfactory receptor 11H7 314 35499 8.71 7 Cell membrane NA Odorant receptor. Activated by isovaleric acid. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 14 +NX_Q8NGC9 Olfactory receptor 11H4 324 36886 9.05 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 14 +NX_Q8NGD0 Olfactory receptor 4M1 313 35488 8.41 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 14 +NX_Q8NGD1 Olfactory receptor 4N2 307 34721 9.06 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 14 +NX_Q8NGD2 Olfactory receptor 4K2 314 35357 7.59 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 14 +NX_Q8NGD3 Olfactory receptor 4K5 323 36258 8.77 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 14 +NX_Q8NGD4 Olfactory receptor 4K1 311 35201 6.43 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 14 +NX_Q8NGD5 Olfactory receptor 4K14 310 35053 8.46 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 14 +NX_Q8NGE0 Olfactory receptor 10AD1 317 35698 8.46 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 12 +NX_Q8NGE1 Olfactory receptor 6C4 309 35010 8.91 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 12 +NX_Q8NGE2 Olfactory receptor 2AP1 309 34902 8.66 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 12 +NX_Q8NGE3 Olfactory receptor 10P1 313 34741 9.77 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 12 +NX_Q8NGE5 Olfactory receptor 10A7 316 35695 8.78 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 12 +NX_Q8NGE7 Olfactory receptor 9K2 335 37746 8.68 6 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 12 +NX_Q8NGE8 Olfactory receptor 4D9 314 35666 9.08 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGE9 Olfactory receptor 9Q2 314 35363 8.83 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGF0 Olfactory receptor 52B6 335 36963 8.61 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGF1 Olfactory receptor 52R1 315 34943 8.49 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGF3 Olfactory receptor 51D1 324 35839 8.99 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGF4 Olfactory receptor 5AP2 316 35508 8.9 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGF6 Olfactory receptor 10W1 305 33376 6.83 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 11 +NX_Q8NGF7 Olfactory receptor 5B17 314 35091 7.56 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGF8 Olfactory receptor 4B1 309 34456 7.54 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGF9 Olfactory receptor 4X2 303 34289 8.75 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGG0 Olfactory receptor 8J3 315 35481 8.62 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGG1 Olfactory receptor 8J2 315 35160 8.51 7 Membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 11 +NX_Q8NGG2 Olfactory receptor 5T2 359 40696 8.91 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGG3 Olfactory receptor 5T3 340 38346 8.3 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGG4 Olfactory receptor 8H1 311 35228 9.03 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGG5 Olfactory receptor 8K1 319 36581 9.18 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGG6 Olfactory receptor 8B12 310 34372 8.51 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGG7 Olfactory receptor 8A1 326 36388 8.69 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGG8 Olfactory receptor 8B3 313 35305 9.07 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 11 +NX_Q8NGH3 Olfactory receptor 2D3 330 37489 9.21 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGH5 Olfactory receptor 56A1 318 35823 9.03 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGH6 Putative olfactory receptor 52L2 319 35227 8.98 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 11 +NX_Q8NGH7 Olfactory receptor 52L1 329 36221 8.57 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGH8 Olfactory receptor 56A4 313 35116 9.03 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGH9 Olfactory receptor 52E4 312 35480 8.84 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGI0 Olfactory receptor 52N2 321 35940 8.35 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGI1 Putative olfactory receptor 56B2 322 35955 8.99 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 11 +NX_Q8NGI2 Olfactory receptor 52N4 321 36080 8.48 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGI3 Olfactory receptor 56B1 324 36050 8.5 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGI4 Olfactory receptor 4D11 311 34969 9.06 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGI6 Olfactory receptor 4D10 311 35300 9.07 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGI7 Olfactory receptor 10V1 309 34746 8.69 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGI8 Olfactory receptor 5AN1 311 34789 8.83 7 Cell membrane NA Odorant receptor involved in the detection of muscone, cyclopentadecanone, cyclopentadecanol, and omega-pentadecalactone (PubMed:24361078, PubMed:25901328). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase (Probable). NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGI9 Olfactory receptor 5A2 324 36016 8.46 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGJ0 Olfactory receptor 5A1 315 35152 8.53 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGJ1 Olfactory receptor 4D6 314 35954 8.75 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGJ2 Olfactory receptor 52H1 320 35592 8.18 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGJ3 Olfactory receptor 52E1 308 34714 8.64 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 11 +NX_Q8NGJ4 Olfactory receptor 52E2 325 36630 8.69 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGJ5 Olfactory receptor 51L1 315 35369 7.65 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGJ6 Olfactory receptor 51A4 313 35256 9.15 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGJ7 Olfactory receptor 51A2 313 35078 9.06 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGJ8 Olfactory receptor 51S1 323 35313 9.13 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGJ9 Olfactory receptor 51T1 327 36998 9.45 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGK0 Olfactory receptor 51G2 314 35012 8.93 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGK1 Olfactory receptor 51G1 321 36290 8.97 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGK2 Olfactory receptor 52B4 314 35584 8.82 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction PE3 11 +NX_Q8NGK3 Olfactory receptor 52K2 314 34926 8.8 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGK4 Olfactory receptor 52K1 314 35231 8.97 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGK5 Olfactory receptor 52M1 317 35037 8.99 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGK6 Olfactory receptor 52I1 324 35386 7.16 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGK9 Olfactory receptor 5D16 328 37278 8.62 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGL0 Olfactory receptor 5L2 311 34682 8.46 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGL1 Olfactory receptor 5D18 313 35348 8.68 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGL2 Olfactory receptor 5L1 311 34559 8.29 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGL3 Olfactory receptor 5D14 314 35823 9.01 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGL4 Olfactory receptor 5D13 314 35447 8.19 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGL6 Olfactory receptor 4A15 344 38828 9.01 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGL7 Olfactory receptor 4P4 312 35795 8.76 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGL9 Olfactory receptor 4C16 310 34991 8.8 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGM1 Olfactory receptor 4C15 316 35667 8.02 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGM8 Olfactory receptor 6M1 313 35328 8.54 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGM9 Olfactory receptor 8D4 314 35019 9.04 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGN0 Olfactory receptor 4D5 318 35771 8.95 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGN1 Olfactory receptor 6T1 323 36348 9.39 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGN2 Olfactory receptor 10S1 331 36501 8.47 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGN3 Olfactory receptor 10G4 311 34569 8.99 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGN4 Olfactory receptor 10G9 311 34574 8.57 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGN5 Olfactory receptor 10G8 311 34519 9.14 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGN6 Olfactory receptor 10G7 311 34517 8.85 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGN7 Putative olfactory receptor 10D4 298 33107 8.33 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 11 +NX_Q8NGN8 Putative olfactory receptor 4A4 299 33593 8.83 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 11 +NX_Q8NGP0 Olfactory receptor 4C13 309 34582 8.72 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGP2 Olfactory receptor 8J1 316 35415 8.61 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGP3 Olfactory receptor 5M9 310 35093 8.7 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGP4 Olfactory receptor 5M3 307 35156 9.19 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGP6 Olfactory receptor 5M8 311 35603 8.78 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGP8 Olfactory receptor 5M1 315 35608 8.41 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGP9 Olfactory receptor 5AR1 310 34815 7.52 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGQ1 Olfactory receptor 9G4 327 36344 8.25 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGQ2 Olfactory receptor 6Q1 317 35736 8.32 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGQ3 Olfactory receptor 1S2 325 36579 7.63 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGQ4 Olfactory receptor 10Q1 319 35602 8.16 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGQ5 Olfactory receptor 9Q1 310 34757 5.72 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NGQ6 Olfactory receptor 9I1 314 34908 9 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NGR1 Olfactory receptor 13A1 328 36494 8.7 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 10 +NX_Q8NGR2 Olfactory receptor 1L6 347 39515 9.6 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 9 +NX_Q8NGR3 Olfactory receptor 1K1 316 34268 8.1 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGR4 Olfactory receptor 5C1 320 34991 8.88 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGR5 Olfactory receptor 1L4 311 35277 9.44 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGR6 Olfactory receptor 1B1 318 35293 8.48 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGR8 Olfactory receptor 1L8 309 35083 8.96 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGR9 Olfactory receptor 1N2 330 36889 7.98 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGS0 Olfactory receptor 1N1 311 34650 7.92 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGS1 Olfactory receptor 1J4 313 34959 6.42 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGS2 Olfactory receptor 1J2 313 35385 6.48 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGS3 Olfactory receptor 1J1 322 35493 7.96 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGS4 Olfactory receptor 13F1 319 35646 8.94 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGS5 Olfactory receptor 13C4 318 35576 9.3 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 9 +NX_Q8NGS6 Olfactory receptor 13C3 347 38729 8.83 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGS7 Olfactory receptor 13C8 320 35294 8.47 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGS8 Olfactory receptor 13C5 318 35796 8.53 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGS9 Olfactory receptor 13C2 318 35694 7.58 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGT0 Olfactory receptor 13C9 318 35854 8.56 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGT1 Olfactory receptor 2K2 316 35045 8.55 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGT2 Olfactory receptor 13J1 312 34689 8.87 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGT5 Olfactory receptor 9A2 310 35330 8.84 6 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 7 +NX_Q8NGT7 Olfactory receptor 2A12 310 35213 9.24 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 7 +NX_Q8NGT9 Olfactory receptor 2A1/2A42 310 34714 8.9 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory transduction;Olfactory Signaling Pathway PE3 7 +NX_Q8NGU1 Putative olfactory receptor 9A1 263 29546 7.46 6 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 7 +NX_Q8NGU2 Olfactory receptor 9A4 314 35758 8.8 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 7 +NX_Q8NGU4 Putative olfactory receptor 2I1 316 34115 9.61 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 6 +NX_Q8NGU9 Probable G-protein coupled receptor 150 434 46353 10.17 7 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. G alpha (s) signalling events PE1 5 +NX_Q8NGV0 Olfactory receptor 2Y1 311 34731 8.66 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 5 +NX_Q8NGV5 Olfactory receptor 13D1 346 39125 7.53 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NGV6 Olfactory receptor 5H6 325 36713 6.64 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 3 +NX_Q8NGV7 Olfactory receptor 5H2 314 35974 7.57 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 3 +NX_Q8NGW1 Olfactory receptor 6B3 331 37232 8.53 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 2 +NX_Q8NGW6 Olfactory receptor 6K6 343 38362 8.39 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NGX0 Olfactory receptor 11L1 322 36763 9.22 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NGX1 Olfactory receptor 2T34 318 35681 8.7 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NGX2 Olfactory receptor 2T35 323 36101 9.03 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 1 +NX_Q8NGX3 Olfactory receptor 10T2 314 35011 9.24 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 1 +NX_Q8NGX5 Olfactory receptor 10K1 313 35079 9.33 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NGX6 Olfactory receptor 10R2 335 37486 8.88 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NGX8 Olfactory receptor 6Y1 325 36636 8.38 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NGX9 Olfactory receptor 6P1 317 35831 8.77 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 1 +NX_Q8NGY0 Olfactory receptor 10X1 326 36446 8.51 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NGY1 Olfactory receptor 10Z1 313 34609 8.48 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NGY2 Olfactory receptor 6K2 324 36513 8.21 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NGY3 Olfactory receptor 6K3 331 37352 6.97 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NGY5 Olfactory receptor 6N1 312 34869 8.63 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NGY6 Olfactory receptor 6N2 317 35692 9.08 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NGY7 Putative olfactory receptor 10J6 276 31021 8.87 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 1 +NX_Q8NGY9 Olfactory receptor 2L8 312 35444 8.86 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NGZ0 Olfactory receptor 2AJ1 328 37063 9.12 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 1 +NX_Q8NGZ2 Olfactory receptor 14K1 314 34861 8.77 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 1 +NX_Q8NGZ3 Olfactory receptor 13G1 307 34672 8.52 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NGZ4 Olfactory receptor 2G3 309 34506 8.04 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NGZ5 Olfactory receptor 2G2 317 35559 9.44 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 1 +NX_Q8NGZ6 Olfactory receptor 6F1 308 33961 8.9 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NGZ9 Olfactory receptor 2T10 312 35403 8.81 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NH00 Olfactory receptor 2T4 348 39414 7.2 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NH01 Olfactory receptor 2T11 316 34797 8.18 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NH02 Olfactory receptor 2T29 315 35595 8.59 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NH03 Olfactory receptor 2T3 318 35598 8.42 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NH04 Olfactory receptor 2T27 317 35514 8.47 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NH05 Olfactory receptor 4Q3 313 35491 7.83 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 14 +NX_Q8NH06 Olfactory receptor 1P1 330 36638 8.32 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 17 +NX_Q8NH07 Olfactory receptor 11H2 326 36531 8.35 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 14 +NX_Q8NH08 Olfactory receptor 10AC1 325 35157 9.34 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 7 +NX_Q8NH09 Olfactory receptor 8S1 359 39645 8.84 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 12 +NX_Q8NH10 Olfactory receptor 8U1 309 35088 7.97 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NH16 Olfactory receptor 2L2 312 35495 8.94 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NH18 Olfactory receptor 5J2 312 34808 8.3 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NH19 Olfactory receptor 10AG1 301 34105 9.07 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NH21 Olfactory receptor 4F5 305 34330 8.53 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 1 +NX_Q8NH37 Olfactory receptor 4C3 302 33726 6.68 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NH40 Olfactory receptor 6S1 331 36127 8.66 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 14 +NX_Q8NH41 Olfactory receptor 4K15 348 39088 9.1 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 14 +NX_Q8NH42 Olfactory receptor 4K13 304 34261 9.04 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 14 +NX_Q8NH43 Olfactory receptor 4L1 312 35264 9.03 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 14 +NX_Q8NH48 Olfactory receptor 5B3 314 35258 6.48 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NH49 Olfactory receptor 4X1 305 34222 8.74 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NH50 Olfactory receptor 8K5 307 35190 6.48 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NH51 Olfactory receptor 8K3 312 35463 8.02 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NH53 Olfactory receptor 52N1 320 35785 8.57 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NH54 Olfactory receptor 56A3 315 35611 8.82 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NH55 Olfactory receptor 52E5 327 36851 9.12 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 11 +NX_Q8NH56 Olfactory receptor 52N5 324 36212 8.88 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NH57 Putative olfactory receptor 52P1 321 34890 8.69 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 11 +NX_Q8NH59 Olfactory receptor 51Q1 317 35747 8.69 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NH60 Olfactory receptor 52J3 311 35091 8.82 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NH61 Olfactory receptor 51F2 342 38518 9.06 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NH63 Olfactory receptor 51H1 302 33766 8.97 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 11 +NX_Q8NH64 Olfactory receptor 51A7 312 35132 9.12 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NH67 Olfactory receptor 52I2 350 38353 8.42 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NH69 Olfactory receptor 5W2 310 35167 6.57 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 11 +NX_Q8NH70 Olfactory receptor 4A16 328 36922 8.58 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NH72 Olfactory receptor 4C6 309 34558 8.45 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NH73 Olfactory receptor 4S2 311 35172 8.53 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NH74 Olfactory receptor 10A6 314 35318 8.37 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NH76 Olfactory receptor 56B4 319 35454 8.01 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NH79 Olfactory receptor 6X1 312 34727 9.1 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NH80 Putative olfactory receptor 10D3 312 34812 8.31 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 11 +NX_Q8NH81 Olfactory receptor 10G6 332 36823 7.53 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 11 +NX_Q8NH83 Olfactory receptor 4A5 315 34915 8.41 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NH85 Olfactory receptor 5R1 324 36708 8.61 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NH87 Olfactory receptor 9G1 305 34071 8.14 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NH89 Putative olfactory receptor 5AK3 298 33542 7.55 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 11 +NX_Q8NH90 Olfactory receptor 5AK2 309 34627 8.42 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8NH92 Olfactory receptor 1S1 325 36707 8.79 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q8NH93 Olfactory receptor 1L3 324 36633 9.36 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NH94 Olfactory receptor 1L1 360 41046 9.01 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q8NH95 Putative olfactory receptor 13C6 151 16702 8.4 3 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE5 9 +NX_Q8NHA4 Olfactory receptor 2AE1 323 36588 9.28 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 7 +NX_Q8NHA6 Putative olfactory receptor 2W6 318 35283 8.66 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 6 +NX_Q8NHA8 Olfactory receptor 1F12 337 36933 7.95 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 6 +NX_Q8NHB1 Olfactory receptor 2V1 315 34857 8.92 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 5 +NX_Q8NHB7 Olfactory receptor 5K1 308 35185 8.39 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 3 +NX_Q8NHB8 Olfactory receptor 5K2 316 35763 8.37 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 3 +NX_Q8NHC4 Olfactory receptor 10J5 309 34401 8.65 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NHC5 Olfactory receptor 14A16 309 34307 8.41 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NHC6 Putative olfactory receptor 14L1 308 34709 8.72 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 1 +NX_Q8NHC7 Olfactory receptor 14C36 312 34815 8.71 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q8NHC8 Olfactory receptor 2T6 308 34765 8.38 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 1 +NX_Q8NHE4 V-type proton ATPase subunit e 2 81 9184 8.8 2 Membrane NA Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. NA Belongs to the V-ATPase e1/e2 subunit family. Oxidative phosphorylation;Metabolic pathways;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE2 7 +NX_Q8NHG7 Small VCP/p97-interacting protein 77 8443 9.06 0 Membrane;Golgi apparatus membrane;Smooth endoplasmic reticulum membrane;Cell membrane NA NA NA Belongs to the SVIP family. Protein processing in endoplasmic reticulum;Neutrophil degranulation PE1 11 +NX_Q8NHG8 E3 ubiquitin-protein ligase ZNRF2 242 24115 6.64 0 Lysosome membrane;Presynaptic cell membrane;Endosome membrane NA May play a role in the establishment and maintenance of neuronal transmission and plasticity via its ubiquitin ligase activity. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 7 +NX_Q8NHH1 Tubulin polyglutamylase TTLL11 800 87612 9.08 0 Cilium basal body NA Polyglutamase which preferentially modifies alpha-tubulin. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step (By similarity). Required for CCSAP localization to both spindle and cilia microtubules (PubMed:22493317). Generates long side-chains (By similarity). NA Belongs to the tubulin--tyrosine ligase family. Carboxyterminal post-translational modifications of tubulin PE1 9 +NX_Q8NHH9 Atlastin-2 583 66229 5.3 2 Endoplasmic reticulum;Endoplasmic reticulum membrane NA GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis (PubMed:18270207, PubMed:19665976, PubMed:27619977). NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily. NA PE1 2 +NX_Q8NHJ6 Leukocyte immunoglobulin-like receptor subfamily B member 4 448 49356 6.19 1 Cell membrane NA Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C and HLA-G alleles. Involved in the down-regulation of the immune response and the development of tolerance, e.g. Towards transplants. Interferes with TNFRSF5-signaling and NF-kappa-B up-regulation. Inhibits receptor-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions. NA NA Osteoclast differentiation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_Q8NHK3 Killer cell immunoglobulin-like receptor 2DL5B 375 40695 8.08 1 Cell membrane NA Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis. NA Belongs to the immunoglobulin superfamily. NA PE3 19 +NX_Q8NHL6 Leukocyte immunoglobulin-like receptor subfamily B member 1 650 70819 5.69 1 Secreted;Cell membrane NA Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C, HLA-G and HLA-F alleles (PubMed:16455647, PubMed:28636952). Receptor for H301/UL18, a human cytomegalovirus class I MHC homolog. Ligand binding results in inhibitory signals and down-regulation of the immune response. Engagement of LILRB1 present on natural killer cells or T-cells by class I MHC molecules protects the target cells from lysis. Interaction with HLA-B or HLA-E leads to inhibition of FCER1A signaling and serotonin release. Inhibits FCGR1A-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions (PubMed:11907092, PubMed:9285411, PubMed:9842885). Recognizes HLA-G in complex with B2M/beta-2 microglobulin and a nonamer self-peptide (PubMed:16455647). Upon interaction with peptide-bound HLA-G-B2M complex, triggers secretion of growth-promoting factors by decidual NK cells (PubMed:29262349, PubMed:19304799). Reprograms B cells toward an immune suppressive phenotype (PubMed:24453251). Phosphorylated on tyrosine residues. Dephosphorylated by PTPN6. NA Osteoclast differentiation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_Q8NHM4 Putative trypsin-6 247 26537 5.64 0 Secreted NA May regulate cell migration. NA Belongs to the peptidase S1 family. Tryptase subfamily. NA PE5 7 +NX_Q8NHM5 Lysine-specific demethylase 2B 1336 152615 8.85 0 Nucleoplasm;Nucleus;Nucleolus;Chromosome NA Histone demethylase that demethylates 'Lys-4' and 'Lys-36' of histone H3, thereby playing a central role in histone code (PubMed:16362057, PubMed:17994099, PubMed:26237645). Preferentially demethylates trimethylated H3 'Lys-4' and dimethylated H3 'Lys-36' residue while it has weak or no activity for mono- and tri-methylated H3 'Lys-36' (PubMed:16362057, PubMed:17994099, PubMed:26237645). Preferentially binds the transcribed region of ribosomal RNA and represses the transcription of ribosomal RNA genes which inhibits cell growth and proliferation (PubMed:16362057, PubMed:17994099). May also serve as a substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex (Probable). NA Belongs to the JHDM1 histone demethylase family. HDMs demethylate histones PE1 12 +NX_Q8NHP1 Aflatoxin B1 aldehyde reductase member 4 331 36970 6.39 0 NA NA Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen (By similarity). NA Belongs to the aldo/keto reductase family. Aldo/keto reductase 2 subfamily. Metabolism of xenobiotics by cytochrome P450;Aflatoxin activation and detoxification PE1 1 +NX_Q8NHP6 Motile sperm domain-containing protein 2 518 59746 5.7 1 Endoplasmic reticulum;Cell membrane NA Promotes migration of primary monocytes and neutrophils, in response to various chemokines. NA NA Neutrophil degranulation PE1 X +NX_Q8NHP7 piRNA biogenesis protein EXD1 514 58335 5.5 0 Cytoplasm NA RNA-binding component of the PET complex, a multiprotein complex required for the processing of piRNAs during spermatogenesis. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposable elements, preventing their mobilization, which is essential for the germline integrity (By similarity). The PET complex is required during the secondary piRNAs metabolic process for the PIWIL2 slicing-triggered loading of PIWIL4 piRNAs. In the PET complex, EXD1 probably acts as an RNA adapter. EXD1 is an inactive exonuclease (By similarity). NA Belongs to the EXD1 family. NA PE1 15 +NX_Q8NHP8 Putative phospholipase B-like 2 589 65472 6.34 0 Lysosome lumen NA Putative phospholipase. The p76 protein is synthesized as a 80 kDa precursor which is then processed into a N-terminal 32 kDa form and a C-terminal 45 kDa form.;Glycosylated; contains mannose 6-phosphate sugars. Belongs to the phospholipase B-like family. NA PE1 12 +NX_Q8NHQ1 Centrosomal protein of 70 kDa 597 69752 5.52 0 Nucleoplasm;Cytosol;Centrosome NA Plays a role in the organization of both preexisting and nascent microtubules in interphase cells. During mitosis, required for the organization and orientation of the mitotic spindle. NA NA Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 3 +NX_Q8NHQ8 Ras association domain-containing protein 8 419 48327 6.21 0 Cytosol;Mitochondrion NA NA NA NA NA PE1 12 +NX_Q8NHQ9 ATP-dependent RNA helicase DDX55 600 68547 9.32 0 Nucleoplasm;Nucleolus NA Probable ATP-binding RNA helicase. NA Belongs to the DEAD box helicase family. DDX55/SPB4 subfamily. NA PE1 12 +NX_Q8NHR7 Telomere repeats-binding bouquet formation protein 2 220 25316 7.12 0 Nucleoplasm;Telomere;Nucleolus;Nucleus inner membrane NA Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. NA Belongs to the TERB2 family. NA PE1 15 +NX_Q8NHR9 Profilin-4 129 14319 8.76 0 Cytoskeleton NA Binds to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), phosphatidylinositol 4-phosphate (PtdIns(4)P) and phosphatidic acid (PA). Does not bind to actin (PubMed:19419568), contrary to other family members. NA Belongs to the profilin family. Regulation of actin cytoskeleton;Shigellosis;Salmonella infection PE1 2 +NX_Q8NHS0 DnaJ homolog subfamily B member 8 232 25686 6 0 NA NA Efficient suppressor of aggregation and toxicity of disease-associated polyglutamine proteins. NA NA NA PE1 3 +NX_Q8NHS1 Claudin domain-containing protein 2 167 17984 7.56 4 Membrane;Nucleoplasm NA NA NA Belongs to the PMP-22/EMP/MP20 family. NA PE2 19 +NX_Q8NHS2 Putative aspartate aminotransferase, cytoplasmic 2 421 47305 6.56 0 Cytoplasm NA NA NA Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. NA PE1 8 +NX_Q8NHS3 Major facilitator superfamily domain-containing protein 8 518 57628 6.41 12 Nucleoplasm;Cytoplasmic vesicle;Endosome;Lysosome membrane Macular dystrophy with central cone involvement;Ceroid lipofuscinosis, neuronal, 7 May be a carrier that transport small solutes by using chemiosmotic ion gradients. NA Belongs to the major facilitator superfamily. Lysosome PE1 4 +NX_Q8NHS4 Clathrin heavy chain linker domain-containing protein 1 586 67250 6.09 0 Centrosome;Nucleolus NA NA NA NA NA PE1 2 +NX_Q8NHS9 Spermatogenesis-associated protein 22 363 41318 9.45 0 Chromosome NA Meiosis-specific protein required for homologous recombination in meiosis I. NA NA NA PE1 17 +NX_Q8NHU0 Cancer/testis antigen family 45 member A3 189 21331 9.79 0 NA NA NA NA Belongs to the CT45 family. NA PE1 X +NX_Q8NHU2 Cilia- and flagella-associated protein 61 1237 141349 5.76 0 Cilium axoneme NA May regulate cilium motility through its role in the assembly of the axonemal radial spokes. NA NA NA PE1 20 +NX_Q8NHU3 Phosphatidylcholine:ceramide cholinephosphotransferase 2 365 42280 9.01 6 Cell membrane;Golgi apparatus membrane NA Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Plasma membrane SMS2 can also convert phosphatidylethanolamine (PE) to ceramide phosphatidylethanolamine (CPE). Major form in liver. Required for cell growth in certain cell types. Regulator of cell surface levels of ceramide, an important mediator of signal transduction and apoptosis. Regulation of sphingomyelin (SM) levels at the cell surface affects insulin sensitivity. Palmitoylated on Cys-331, Cys-332, Cys-343 and Cys-348; which plays an important role in plasma membrane localization. Belongs to the sphingomyelin synthase family. Sphingolipid metabolism;Metabolic pathways;Sphingolipid de novo biosynthesis PE1 4 +NX_Q8NHU6 Tudor domain-containing protein 7 1098 123586 6.84 0 Nucleoplasm;Cytosol;Cytoplasm Cataract 36 Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes: probably acts by binding to specific mRNAs and regulating their translation. Required for lens transparency during lens development, by regulating translation of genes such as CRYBB3 and HSPB1 in the developing lens. Also required during spermatogenesis. NA Belongs to the TDRD7 family. NA PE1 9 +NX_Q8NHV1 GTPase IMAP family member 7 300 34509 6.1 0 Golgi apparatus;Cytoplasm;Lipid droplet;Endoplasmic reticulum;Cytoplasmic vesicle;Cytosol NA The dimer has GTPase activity; the active site contains residues from both subunits. NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase family. IAN subfamily. NA PE1 7 +NX_Q8NHV4 Protein NEDD1 660 71966 8.15 0 Nucleoplasm;Centrosome;Cell membrane NA Required for mitosis progression. Promotes the nucleation of microtubules from the spindle. During mitosis, prior phosphorylation on Thr-550 by CDK1 promotes subsequent phosphorylation by PLK1 on Thr-382, Ser-397, Ser-426 and Ser-637. Phosphorylated NEDD1 can interact with gamma-tubulin for targeting the gamma-tubulin ring complex (gTuRC) to the centrosome, an important step for spindle formation. NA Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 12 +NX_Q8NHV5 Modulator of smoothened protein 167 18250 8.6 4 Cilium membrane;Cell membrane NA Acts as a negative regulator of hedgehog signaling probably by promoting internalization and subsequent degradation of smoothened protein (SMO) present in the ciliary membrane. Plays a role in sonic hedgehog (SHH)-induced spinal neural progenitor cells differentiation. NA NA NA PE2 16 +NX_Q8NHV9 Rhox homeobox family member 1 184 20542 5.77 0 Nucleus NA Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis. NA Belongs to the paired-like homeobox family. PEPP subfamily. NA PE1 X +NX_Q8NHW3 Transcription factor MafA 353 36982 7.49 0 Nucleus Insulinomatosis and diabetes mellitus Transcription factor that activates insulin gene expression (PubMed:15993959, PubMed:12011435). Acts synergistically with NEUROD1/BETA2 and PDX1 (PubMed:15993959). Binds the insulin enhancer C1/RIPE3b element (PubMed:12011435). Binds to consensus TRE-type MARE 5'-TGCTGACTCAGCA-3' DNA sequence (PubMed:23148532, PubMed:29339498). Ubiquitinated, leading to its degradation by the proteasome.;Phosphorylated at tyrosines. Belongs to the bZIP family. Maf subfamily. Type II diabetes mellitus;Maturity onset diabetes of the young;Regulation of gene expression in beta cells PE1 8 +NX_Q8NHW4 C-C motif chemokine 4-like 92 10166 5.13 0 Secreted NA Chemokine that induces chemotaxis of cells expressing CCR5 or CCR1. Inhibits HIV replication in peripheral blood monocytes that express CCR5. NA Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Cytosolic DNA-sensing pathway;Salmonella infection;Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Cytosolic DNA-sensing pathway;Salmonella infection;G alpha (i) signalling events PE1 17 +NX_Q8NHW5 60S acidic ribosomal protein P0-like 317 34364 5.41 0 NA NA Ribosomal protein P0 is the functional equivalent of E.coli protein L10. NA Belongs to the universal ribosomal protein uL10 family. NA PE5 2 +NX_Q8NHW6 Otospiralin 89 9939 4.47 0 Secreted NA May be essential for the survival of the neurosensory epithelium of the inner ear. NA Belongs to the otospiralin family. NA PE2 2 +NX_Q8NHX4 Spermatogenesis-associated protein 3 192 20901 10.11 0 NA NA NA NA NA NA PE1 2 +NX_Q8NHX9 Two pore calcium channel protein 2 752 85243 6.65 12 Lysosome membrane;Nucleolus NA Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca(2+) channels (VDCC) across the lysosomal membrane. May be involved in smooth muscle contraction. N-glycosylated. Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. Two pore calcium channel subfamily. Pancreatic secretion;Stimuli-sensing channels PE1 11 +NX_Q8NHY0 Beta-1,4 N-acetylgalactosaminyltransferase 2 566 63258 8.79 1 Golgi apparatus membrane NA Involved in the synthesis of the Sd(a) antigen (Sia-alpha2,3-[GalNAc-beta1,4]Gal-beta1,4-GlcNAc), a carbohydrate determinant expressed on erythrocytes, the colonic mucosa and other tissues. Transfers a beta-1,4-linked GalNAc to the galactose residue of an alpha-2,3-sialylated chain. NA Belongs to the glycosyltransferase 2 family. Protein modification; protein glycosylation.;Asparagine N-linked glycosylation;Lewis blood group biosynthesis PE1 17 +NX_Q8NHY2 E3 ubiquitin-protein ligase COP1 731 80474 6.41 0 Cytoplasm;Nucleus speckle NA E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Involved in JUN ubiquitination and degradation. Directly involved in p53 (TP53) ubiquitination and degradation, thereby abolishing p53-dependent transcription and apoptosis. Ubiquitinates p53 independently of MDM2 or RCHY1. Probably mediates E3 ubiquitin ligase activity by functioning as the essential RING domain subunit of larger E3 complexes. In contrast, it does not constitute the catalytic RING subunit in the DCX DET1-COP1 complex that negatively regulates JUN, the ubiquitin ligase activity being mediated by RBX1. Involved in 14-3-3 protein sigma/SFN ubiquitination and proteasomal degradation, leading to AKT activation and promotion of cell survival. Ubiquitinates MTA1 leading to its proteasomal degradation. Upon binding to TRIB1, ubiquitinates CEBPA, which lacks a canonical COP1-binding motif (Probable). Autoubiquitinated. MTA1 destabilizes it by promoting its autoubiquitination. Belongs to the COP1 family. Protein modification; protein ubiquitination.;p53 signaling pathway;Ubiquitin mediated proteolysis;Autodegradation of the E3 ubiquitin ligase COP1;Neddylation PE1 1 +NX_Q8NHY3 GAS2-like protein 2 880 96520 9.3 0 Stress fiber;Cell membrane;Cilium basal body;Cytoskeleton Ciliary dyskinesia, primary, 41 Involved in the cross-linking of microtubules and microfilaments (PubMed:12584248, PubMed:24706950). Regulates microtubule dynamics and stability by interacting with microtubule plus-end tracking proteins, such as MAPRE1, to regulate microtubule growth along actin stress fibers (PubMed:24706950). Enhances ADORA2-mediated adenylyl cyclase activation by acting as a scaffold to recruit trimeric G-protein complexes to ADORA2A (By similarity). Regulates ciliary orientation and performance in cells located in the airway (PubMed:30665704). NA Belongs to the GAS2 family. NA PE1 17 +NX_Q8NHY5 Checkpoint protein HUS1B 278 30982 9.49 0 Nucleoplasm;Cytosol NA NA NA Belongs to the HUS1 family. NA PE1 6 +NX_Q8NHY6 Zinc finger protein 28 homolog 868 98705 9.44 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. May have a role in embryonic development. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8NHZ7 Methyl-CpG-binding domain protein 3-like 2 208 22994 11.53 0 NA NA NA NA Belongs to the MBD3L family. NA PE2 19 +NX_Q8NHZ8 Anaphase-promoting complex subunit CDC26 85 9777 6.32 0 Nucleoplasm;Nucleus NA Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. May recruit the E2 ubiquitin-conjugating enzymes to the complex. NA Belongs to the CDC26 family. Protein modification; protein ubiquitination.;Cell cycle;Oocyte meiosis;Ubiquitin mediated proteolysis;Progesterone-mediated oocyte maturation;HTLV-I infection;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;CDK-mediated phosphorylation and removal of Cdc6;Antigen processing: Ubiquitination & Proteasome degradation;Senescence-Associated Secretory Phenotype (SASP);Autodegradation of Cdh1 by Cdh1:APC/C;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of Cyclin B;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;APC/C:Cdc20 mediated degradation of mitotic proteins;Phosphorylation of the APC/C;APC-Cdc20 mediated degradation of Nek2A PE1 9 +NX_Q8NI08 Nuclear receptor coactivator 7 942 106162 5.43 0 Golgi apparatus;Cytoplasm;Nucleus NA Enhances the transcriptional activities of several nuclear receptors. Involved in the coactivation of different nuclear receptors, such as ESR1, THRB, PPARG and RARA. NA Belongs to the OXR1 family. NA PE1 6 +NX_Q8NI17 Interleukin-31 receptor subunit alpha 732 82954 6.75 1 Presynaptic cell membrane;Cell membrane;Nucleoplasm;Cytoplasmic vesicle;Axon Amyloidosis, primary localized cutaneous, 2 Associates with OSMR to form the interleukin-31 receptor which activates STAT3 and to a lower extent STAT1 and STAT5 (PubMed:11877449, PubMed:14504285, PubMed:15627637, PubMed:15194700). May function in skin immunity (PubMed:15184896). Mediates IL31-induced itch, probably in a manner dependent on cation channels TRPA1 and TRPV1 (By similarity). Positively regulates numbers and cycling status of immature subsets of myeloid progenitor cells in bone marrow in vivo and enhances myeloid progenitor cell survival in vitro (By similarity). N-glycosylated. Belongs to the type I cytokine receptor family. Type 2 subfamily. IL-6-type cytokine receptor ligand interactions PE1 5 +NX_Q8NI22 Multiple coagulation factor deficiency protein 2 146 16390 4.51 0 Endoplasmic reticulum;Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment Factor V and factor VIII combined deficiency 2 The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Plays a role in the secretion of coagulation factors. NA NA COPII-mediated vesicle transport;Transport to the Golgi and subsequent modification;Cargo concentration in the ER PE1 2 +NX_Q8NI27 THO complex subunit 2 1593 182775 8.67 0 Nucleoplasm;Nucleus speckle;Nucleus Mental retardation, X-linked 12 Required for efficient export of polyadenylated RNA and spliced mRNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. THOC2 (and probably the THO complex) is involved in releasing mRNA from nuclear speckle domains. Required for NXF1 localization to the nuclear rim. Plays a role for proper neuronal development. NA Belongs to the THOC2 family. RNA transport;Spliceosome;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 X +NX_Q8NI28 Putative uncharacterized protein encoded by LINC01006 216 22304 11.7 1 Membrane NA NA NA NA NA PE5 7 +NX_Q8NI29 F-box only protein 27 283 31623 8.92 0 Nucleoplasm NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Able to recognize and bind denatured glycoproteins, which are modified with complex-type oligosaccharides. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 19 +NX_Q8NI32 Ly6/PLAUR domain-containing protein 6B 183 20656 7.97 0 Cell membrane NA Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro acts on nAChRs in a subtype- and stoichiometry-dependent manner. Modulates specifically alpha-3(3):beta-4(2) nAChRs by enhancing the sensitivity to ACh, decreasing ACh-induced maximal current response and increasing the rate of desensitization to ACh; has no effect on alpha-7 homomeric nAChRs; modulates alpha-3(2):alpha-5:beta-4(2) nAChRs in the context of CHRNA5/alpha-5 variant Asn-398 but not its wild-type sequence. NA NA Post-translational modification: synthesis of GPI-anchored proteins PE1 2 +NX_Q8NI35 InaD-like protein 1801 196368 4.84 0 Cell junction;Centriolar satellite;Tight junction;Apical cell membrane;Perinuclear region NA Scaffolding protein that may bring different proteins into adjacent positions at the cell membrane (Probable). May regulate protein targeting, cell polarity and integrity of tight junctions (PubMed:11927608, PubMed:16678097). May regulate the surface expression and/or function of ASIC3 in sensory neurons (By similarity). May recruit ARHGEF18 to apical cell-cell boundaries (PubMed:22006950). NA NA Tight junction;Tight junction interactions PE1 1 +NX_Q8NI36 WD repeat-containing protein 36 951 105322 7.33 0 Nucleolus Glaucoma 1, open angle, G Involved in the nucleolar processing of SSU 18S rRNA. Involved in T-cell activation and highly coregulated with IL2. NA NA Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 5 +NX_Q8NI37 Protein phosphatase PTC7 homolog 304 32646 4.99 0 Mitochondrion matrix;Cytosol;Cell membrane NA Protein phosphatase which positively regulates biosynthesis of the ubiquinone, coenzyme Q (PubMed:30267671). Dephosphorylates the ubiquinone biosynthesis protein COQ7 which is likely to lead to its activation (PubMed:30267671). NA Belongs to the PP2C family. NA PE1 12 +NX_Q8NI38 NF-kappa-B inhibitor delta 313 33481 6.9 0 Mitochondrion;Nucleus NA Regulates the expression of IL-2, IL-6, and other cytokines through regulation on NF-kappa-B activity. Functions in the regulation of inflammatory responses. Involved in the induction of T helper 17 cells (Th17) differentiation upon recognition of antigen by T cell antigen receptor (TCR). May also regulate TCR-induced negative selection of thymocytes. NA Belongs to the NF-kappa-B inhibitor family. NA PE1 19 +NX_Q8NI51 Transcriptional repressor CTCFL 663 75747 8.58 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Testis-specific DNA binding protein responsible for insulator function, nuclear architecture and transcriptional control, which probably acts by recruiting epigenetic chromatin modifiers. Plays a key role in gene imprinting in male germline, by participating in the establishment of differential methylation at the IGF2/H19 imprinted control region (ICR). Directly binds the unmethylated H19 ICR and recruits the PRMT7 methyltransferase, leading to methylate histone H4 'Arg-3' to form H4R3sme2. This probably leads to recruit de novo DNA methyltransferases at these sites (By similarity). Seems to act as tumor suppressor. In association with DNMT1 and DNMT3B, involved in activation of BAG1 gene expression by binding to its promoter. Required for dimethylation of H3 lysine 4 (H3K4me2) of MYC and BRCA1 promoters. NA Belongs to the CTCF zinc-finger protein family. NA PE1 20 +NX_Q8NI60 Atypical kinase COQ8A, mitochondrial 647 71950 6.51 1 Membrane;Mitochondrion Coenzyme Q10 deficiency, primary, 4 Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:25498144, PubMed:21296186, PubMed:25540914, PubMed:27499294). Its substrate specificity is unclear: does not show any protein kinase activity (PubMed:25498144, PubMed:27499294). Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway, as suggested by its ability to bind coenzyme Q lipid intermediates (PubMed:25498144, PubMed:27499294). Shows an unusual selectivity for binding ADP over ATP (PubMed:25498144). NA Belongs to the protein kinase superfamily. ADCK protein kinase family. Cofactor biosynthesis; ubiquinone biosynthesis. PE1 1 +NX_Q8NI77 Kinesin-like protein KIF18A 898 102281 9.09 0 Cytoplasm;Centrosome;Ruffle;Nucleus;Cytoskeleton NA Microtubule-depolymerizing kinesin which plays a role in chromosome congression by reducing the amplitude of preanaphase oscillations and slowing poleward movement during anaphase, thus suppressing chromosome movements. May stabilize the CENPE-BUB1B complex at the kinetochores during early mitosis and maintains CENPE levels at kinetochores during chromosome congression. Ubiquitinated.;Glycosylated. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Separation of Sister Chromatids;MHC class II antigen presentation;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;COPI-dependent Golgi-to-ER retrograde traffic PE1 11 +NX_Q8NI99 Angiopoietin-related protein 6 470 51694 8.78 0 Secreted NA May play a role in the wound healing process. May promote epidermal proliferation, remodeling and regeneration. May promote the chemotactic activity of endothelial cells and induce neovascularization. May counteract high-fat diet-induced obesity and related insulin resistance through increased energy expenditure. NA NA NA PE1 19 +NX_Q8TA86 Retinitis pigmentosa 9 protein 221 26107 9.8 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus Retinitis pigmentosa 9 Is thought to be a target protein for the PIM1 kinase. May play some roles in B-cell proliferation in association with PIM1 (By similarity). NA NA NA PE1 7 +NX_Q8TA94 Zinc finger protein 563 476 55434 9.34 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8TAA1 Probable ribonuclease 11 199 22427 6.1 0 Secreted NA NA NA Belongs to the pancreatic ribonuclease family. NA PE1 14 +NX_Q8TAA3 Proteasome subunit alpha-type 8 256 28530 9.07 0 Cytoplasm;Nucleus NA Component of the spermatoproteasome, a form of the proteasome specifically found in testis that promotes degradation of histones, thereby participating actively to the exchange of histones during spermatogenesis. The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH (By similarity). NA Belongs to the peptidase T1A family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 18 +NX_Q8TAA5 GrpE protein homolog 2, mitochondrial 225 25431 7.63 0 Mitochondrion matrix;Mitochondrion NA Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Seems to control the nucleotide-dependent binding of mitochondrial HSP70 to substrate proteins. Stimulates ATPase activity of mt-HSP70. May also serve to modulate the interconversion of oligomeric (inactive) and monomeric (active) forms of mt-HSP70 (By similarity). NA Belongs to the GrpE family. Mitochondrial protein import PE1 5 +NX_Q8TAA9 Vang-like protein 1 524 59975 8.94 4 Cell membrane Neural tube defects;Sacral defect with anterior meningocele NA NA Belongs to the Vang family. Wnt signaling pathway PE1 1 +NX_Q8TAB3 Protocadherin-19 1148 126253 5.19 1 Cytosol;Cell membrane Epileptic encephalopathy, early infantile, 9 Potential calcium-dependent cell-adhesion protein. NA NA NA PE1 X +NX_Q8TAB5 UPF0500 protein C1orf216 229 24968 5.17 0 Nucleoplasm;Cytosol NA NA NA Belongs to the UPF0500 family. NA PE1 1 +NX_Q8TAB7 Putative coiled-coil domain-containing protein 26 109 13192 9.51 0 NA NA NA NA NA NA PE5 8 +NX_Q8TAC1 Rieske domain-containing protein 157 17762 6.37 0 Nucleoplasm NA NA NA NA NA PE1 5 +NX_Q8TAC2 Josephin-2 188 20756 6.91 0 Cytosol NA Cleaves 'Lys-63'-linked poly-ubiquitin chains, and with lesser efficiency 'Lys-48'-linked poly-ubiquitin chains (in vitro). May act as a deubiquitinating enzyme. NA NA Josephin domain DUBs PE1 19 +NX_Q8TAC9 Secretory carrier-associated membrane protein 5 235 26104 8.8 4 Golgi apparatus;Cell membrane;trans-Golgi network membrane;Synaptic vesicle membrane;Recycling endosome membrane;Golgi apparatus membrane NA Required for the calcium-dependent exocytosis of signal sequence-containing cytokines such as CCL5. Probably acts in cooperation with the SNARE machinery. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) in case of endoplasmic reticulum stress by inhibiting the endocytosis pathway. NA Belongs to the SCAMP family. SCAMP5 subfamily. NA PE1 15 +NX_Q8TAD2 Interleukin-17D 202 21893 9.25 0 Secreted NA Induces expression of IL6, CXCL8/IL8, and CSF2/GM-CSF from endothelial cells. NA Belongs to the IL-17 family. NA PE1 13 +NX_Q8TAD4 Zinc transporter 5 765 84047 6.87 16 Golgi apparatus;Nucleoplasm;trans-Golgi network membrane NA Functions as a zinc transporter. May be a transporter of zinc into beta cells in order to form insulin crystals. Partly regulates cellular zinc homeostasis. Required with ZNT7 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT6 and ZNT7 for the activation of TNAP. NA Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. Insulin processing;Zinc efflux and compartmentalization by the SLC30 family PE1 5 +NX_Q8TAD7 Overexpressed in colon carcinoma 1 protein 63 6407 6.11 0 Cytoplasmic vesicle NA NA NA Belongs to the OCC1 family. NA PE1 12 +NX_Q8TAD8 Smad nuclear-interacting protein 1 396 45778 10 0 Nucleoplasm;Cytosol;Nucleus Psychomotor retardation, epilepsy, and craniofacial dysmorphism Required for pre-mRNA splicing as component of the spliceosome (PubMed:29360106). Down-regulates NF-kappa-B signaling by competing with RELA for CREBBP/EP300 binding. Involved in the microRNA (miRNA) biogenesis. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. Degraded by the proteasome upon binding to the SMAD1/OAZ1/PSMB4 complex. NA NA PE1 1 +NX_Q8TAE6 Protein phosphatase 1 regulatory subunit 14C 165 17843 5.09 0 Membrane;Cytoplasm NA Inhibitor of the PP1 regulatory subunit PPP1CA. Has over 600-fold higher inhibitory activity when phosphorylated, creating a molecular switch for regulating the phosphorylation status of PPP1CA substrates and smooth muscle contraction (By similarity). The main inhibitory site appears to be Thr-73.;PPP1R14C is phosphorylated by PRKACA Belongs to the PP1 inhibitor family. NA PE1 6 +NX_Q8TAE7 Potassium voltage-gated channel subfamily G member 3 436 49593 8.6 6 Cytoplasm;Cytosol;Cell membrane NA Potassium channel subunit that does not form functional channels by itself (PubMed:11852086). Can form functional heterotetrameric channels with KCNB1; this promotes a reduction in the rate of activation and inactivation of the delayed rectifier voltage-gated potassium channel KCNB1 (PubMed:11852086, PubMed:19074135). NA Belongs to the potassium channel family. G (TC 1.A.1.2) subfamily. Kv6.3/KCNG3 sub-subfamily. Voltage gated Potassium channels PE1 2 +NX_Q8TAE8 Growth arrest and DNA damage-inducible proteins-interacting protein 1 222 25384 10.03 0 Mitochondrion;Nucleus NA Acts as a negative regulator of G1 to S cell cycle phase progression by inhibiting cyclin-dependent kinases. Inhibitory effects are additive with GADD45 proteins but occurs also in the absence of GADD45 proteins. Acts as a repressor of the orphan nuclear receptor NR4A1 by inhibiting AB domain-mediated transcriptional activity. May be involved in the hormone-mediated regulation of NR4A1 transcriptional activity. May play a role in mitochondrial protein synthesis. NA Belongs to the mitochondrion-specific ribosomal protein mL64 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 19 +NX_Q8TAF3 WD repeat-containing protein 48 677 76210 6.59 0 Cytoplasm;Late endosome;Lysosome;Cytoplasmic vesicle;Nucleus NA Regulator of deubiquitinating complexes. Acts as a strong activator of USP1 and USP46 (PubMed:18082604, PubMed:19075014, PubMed:26388029). Enhances the USP1-mediated deubiquitination of FANCD2; USP1 being almost inactive by itself (PubMed:18082604). Also activates deubiquitinating activity of complexes containing USP12 (PubMed:19075014, PubMed:27650958, PubMed:27373336). Docks at the distal end of the USP12 fingers domain and induces a cascade of structural changes leading to the activation of the enzyme (PubMed:27650958, PubMed:27373336). Activates deubiquitination by increasing the catalytic turnover without increasing the affinity of deubiquitinating enzymes for the substrate (PubMed:19075014, PubMed:27373336). In complex with USP12, acts as a potential tumor suppressor by positively regulating PHLPP1 stability (PubMed:24145035). In case of infection by Herpesvirus saimiri, may play a role in vesicular transport or membrane fusion events necessary for transport to lysosomes. Induces lysosomal vesicle formation via interaction with Herpesvirus saimiri tyrosine kinase-interacting protein (TIP). Subsequently, TIP recruits tyrosine-protein kinase LCK, resulting in down-regulation of T-cell antigen receptor TCR. May play a role in generation of enlarged endosomal vesicles via interaction with TIP (PubMed:12196293). In case of infection by papillomavirus HPV11, promotes the maintenance of the viral genome via its interaction with HPV11 helicase E1 (PubMed:18032488). NA Belongs to the WD repeat WDR48 family. Fanconi anemia pathway;Recognition of DNA damage by PCNA-containing replication complex;Fanconi Anemia Pathway;Ub-specific processing proteases PE1 3 +NX_Q8TAF5 Putative uncharacterized protein LQK1 88 10021 11.38 0 NA NA NA NA NA NA PE5 1 +NX_Q8TAF7 Zinc finger protein 461 563 66214 8.61 0 Golgi apparatus;Nucleoplasm;Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8TAF8 LHFPL tetraspan subfamily member 5 protein 219 24201 6.69 4 Cell membrane Deafness, autosomal recessive, 67 In the inner ear, may be a component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. Regulates transducer channel conductance and is required for fast channel adaptation (By similarity). NA Belongs to the LHFP family. NA PE1 6 +NX_Q8TAG5 V-set and transmembrane domain-containing protein 2A 236 25833 8.39 0 Secreted NA Plays a role in the regulation of the early stage of white and brown preadipocyte cell differentiation. Promotes adipogenic commitment of preadipocytes by increasing gene expression of the transcription factor PPARG in a BMP4-dependent signaling pathway. N-glycosylated. N-linked glycosylation is critical for secretion but not for preadipocyte cell differentiation activity. NA NA PE1 7 +NX_Q8TAG6 Vexin 207 22584 10.05 0 Cytoplasm;Nucleus speckle;Nucleus;Cell membrane NA Required for neurogenesis in the neural plate and retina. Strongly cooperates with neural bHLH factors to promote neurogenesis. NA Belongs to the vexin family. NA PE1 8 +NX_Q8TAG9 Exocyst complex component 6 804 93722 5.82 0 Cytoplasm;Growth cone;Nucleoplasm;Cytoplasmic vesicle;Perinuclear region;Midbody ring NA Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. Together with RAB11A, RAB3IP, RAB8A, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis (By similarity). NA Belongs to the SEC15 family. Translocation of SLC2A4 (GLUT4) to the plasma membrane;Insulin processing;VxPx cargo-targeting to cilium PE1 10 +NX_Q8TAI1 TYMS opposite strand protein 123 13402 12.04 0 NA NA NA NA NA NA PE5 18 +NX_Q8TAI7 GTPase RhebL1 183 20682 6.24 0 Nucleoplasm;Endomembrane system;Cytoplasm;Centrosome NA Binds GTP and exhibits intrinsic GTPase activity. May activate NF-kappa-B-mediated gene transcription. Promotes signal transduction through MTOR, activates RPS6KB1, and is a downstream target of the small GTPase-activating proteins TSC1 and TSC2. NA Belongs to the small GTPase superfamily. Rheb family. NA PE1 12 +NX_Q8TAK5 GA-binding protein subunit beta-2 448 48650 5.15 0 Nucleoplasm;Cytosol;Nucleus NA May function as transcription factor capable of interacting with purine rich repeats (GA repeats). NA NA NA PE1 1 +NX_Q8TAK6 Oligodendrocyte transcription factor 1 271 27905 9.71 0 Nucleus NA Promotes formation and maturation of oligodendrocytes, especially within the brain. Cooperates with OLIG2 to establish the pMN domain of the embryonic neural tube (By similarity). NA NA NA PE1 21 +NX_Q8TAL5 Uncharacterized protein C9orf43 461 52222 9.01 0 Cytosol NA NA NA NA NA PE1 9 +NX_Q8TAL6 Fin bud initiation factor homolog 211 24273 5.3 0 Endoplasmic reticulum;Golgi apparatus;Secreted NA NA NA Belongs to the FIBIN family. NA PE1 11 +NX_Q8TAM1 Bardet-Biedl syndrome 10 protein 723 80838 7.95 0 Cilium Bardet-Biedl syndrome 10 Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184). NA Belongs to the TCP-1 chaperonin family. BBSome-mediated cargo-targeting to cilium PE1 12 +NX_Q8TAM2 Tetratricopeptide repeat protein 8 541 61534 6.33 0 Cytoplasm;Centriolar satellite;Cilium;Centrosome;Cilium membrane Bardet-Biedl syndrome 8;Retinitis pigmentosa 51 The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. NA NA BBSome-mediated cargo-targeting to cilium PE1 14 +NX_Q8TAM6 Ermin 284 32783 4.75 0 Cytosol;Cell junction;Cytoskeleton NA Plays a role in cytoskeletal rearrangements during the late wrapping and/or compaction phases of myelinogenesis as well as in maintenance and stability of myelin sheath in the adult. May play an important role in late-stage oligodendroglia maturation, myelin/Ranvier node formation during CNS development, and in the maintenance and plasticity of related structures in the mature CNS (By similarity). NA NA NA PE1 2 +NX_Q8TAP4 LIM domain only protein 3 145 16594 8.6 0 NA NA NA NA NA NA PE1 12 +NX_Q8TAP6 Centrosomal protein of 76 kDa 659 74413 6.31 0 Centrosome;Centriole NA Centrosomal protein involved in regulation of centriole duplication. Required to limit centriole duplication to once per cell cycle by preventing centriole reduplication. NA Belongs to the CEP76 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 18 +NX_Q8TAP8 Protein phosphatase 1 regulatory subunit 35 253 27953 8.9 0 Nucleoplasm NA Inhibits PPP1CA phosphatase activity. NA Belongs to the PPP1R35 family. NA PE1 7 +NX_Q8TAP9 M-phase-specific PLK1-interacting protein 179 19147 10.23 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Centrosome;Cytoplasmic vesicle;Nucleus Trichothiodystrophy 4, non-photosensitive May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis. Phosphorylated during mitosis in the cell cycle probably by CDK1. NA NA PE1 7 +NX_Q8TAQ2 SWI/SNF complex subunit SMARCC2 1214 132879 5.49 0 Nucleoplasm;Nucleus Coffin-Siris syndrome 8 Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:11018012). Can stimulate the ATPase activity of the catalytic subunit of these complexes (PubMed:10078207). May be required for CoREST dependent repression of neuronal specific gene promoters in non-neuronal cells (PubMed:12192000). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation (By similarity). NA Belongs to the SMARCC family. RMTs methylate histone arginines;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 12 +NX_Q8TAQ5 Zinc finger protein 420 688 80247 8.94 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA NA Generic Transcription Pathway;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release PE1 19 +NX_Q8TAQ9 SUN domain-containing protein 3 357 40503 7.68 1 Membrane;Nucleus inner membrane;Golgi apparatus;Nucleus envelope NA As a probable component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nuclear remodeling during sperm head formation in spermatogenenis. A probable SUN3:SYNE1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette. NA NA NA PE1 7 +NX_Q8TAS1 Serine/threonine-protein kinase Kist 419 46546 5.59 0 Nucleus;Golgi apparatus;Nucleoplasm;Midbody NA Upon serum stimulation, phosphorylates CDKN1B/p27Kip1, thus controlling CDKN1B subcellular location and cell cycle progression in G1 phase. May be involved in trafficking and/or processing of RNA (By similarity). NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Estrogen-dependent nuclear events downstream of ESR-membrane signaling PE1 1 +NX_Q8TAT2 Fibroblast growth factor-binding protein 3 258 27590 9.96 0 Secreted NA Heparin-binding protein which binds to FGF2, prevents binding of FGF2 to heparin and probably inhibits immobilization of FGF2 on extracellular matrix glycosaminoglycans, allowing its release and subsequent activation of FGFR signaling which leads to increased vascular permeability. NA Belongs to the fibroblast growth factor-binding protein family. FGFR2b ligand binding and activation PE1 10 +NX_Q8TAT5 Endonuclease 8-like 3 605 67769 9.23 0 Nucleoplasm;Nucleus NA DNA glycosylase which prefers single-stranded DNA (ssDNA), or partially ssDNA structures such as bubble and fork structures, to double-stranded DNA (dsDNA). In vitro, displays strong glycosylase activity towards the hydantoin lesions spiroiminodihydantoin (Sp) and guanidinohydantoin (Gh) in both ssDNA and dsDNA; also recognizes FapyA, FapyG, 5-OHU, 5-OHC, 5-OHMH, Tg and 8-oxoA lesions in ssDNA. No activity on 8-oxoG detected. Also shows weak DNA-(apurinic or apyrimidinic site) lyase activity. In vivo, appears to be the primary enzyme involved in removing Sp and Gh from ssDNA in neonatal tissues. Seems to be an important facilitator of cell proliferation in certain populations, for example neural stem/progenitor cells and tumor cells, suggesting a role in replication-associated DNA repair. NA Belongs to the FPG family. Base excision repair;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Defective Base Excision Repair Associated with NEIL3;NEIL3-mediated resolution of ICLs PE1 4 +NX_Q8TAT6 Nuclear protein localization protein 4 homolog 608 68120 5.94 0 Nucleoplasm;Endoplasmic reticulum;Cytosol;Nucleus NA The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope (By similarity). Acts as a negative regulator of type I interferon production via the complex formed with VCP and UFD1, which binds to DDX58/RIG-I and recruits RNF125 to promote ubiquitination and degradation of DDX58/RIG-I (PubMed:26471729). NA Belongs to the NPL4 family. Protein degradation; proteasomal ubiquitin-dependent pathway.;Protein processing in endoplasmic reticulum;Translesion Synthesis by POLH PE1 17 +NX_Q8TAT8 Putative uncharacterized protein LOC644613 98 10982 11.47 0 NA NA NA NA NA NA PE5 11 +NX_Q8TAU0 Homeobox protein Nkx-2.3 364 38406 7.19 0 Nucleus;Cytosol;Nucleolus NA Transcription factor. NA Belongs to the NK-2 homeobox family. NA PE1 10 +NX_Q8TAU3 Zinc finger protein 417 575 65733 9.29 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8TAV0 Protein FAM76A 307 35049 9.33 0 NA NA NA NA Belongs to the FAM76 family. NA PE1 1 +NX_Q8TAV3 Cytochrome P450 2W1 490 53844 9.03 0 Endoplasmic reticulum lumen;Cell membrane NA Seems to have broad catalytic activity towards several chemicals, including polycyclic aromatic hydrocarbon dihydrodiols and aromatic amines (PubMed:16551781, PubMed:24278521). Active also in the metabolism of indoline substrates and is able to activate aflatoxin B1 into cytotoxic products (PubMed:20805301). Furthermore, it seems to be involved in the oxydation of lysophospholipids and fatty acids (PubMed:22591743). NA Belongs to the cytochrome P450 family. Miscellaneous substrates;Xenobiotics PE1 7 +NX_Q8TAV4 Stomatin-like protein 3 291 32135 8.83 1 Cell membrane NA Required for the function of many mechanoreceptors. Modulate mechanotransduction channels and acid-sensing ion channels (ASIC) proteins. Potentiates PIEZO1 and PIEZO2 function by increasing their sensitivity to mechanical stimulations. NA Belongs to the band 7/mec-2 family. Stimuli-sensing channels PE1 13 +NX_Q8TAV5 Putative uncharacterized protein C11orf45 145 15559 7.73 0 Cytosol;Secreted NA NA NA NA NA PE2 11 +NX_Q8TAW3 Zinc finger protein 671 534 60972 9.06 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8TAX0 Protein odd-skipped-related 1 266 29611 9.77 0 Nucleus NA Transcription factor that plays a role in the regulation of embryonic heart and urogenital development. NA Belongs to the Odd C2H2-type zinc-finger protein family. NA PE1 2 +NX_Q8TAX7 Mucin-7 377 39159 8.99 0 Secreted Asthma May function in a protective capacity by promoting the clearance of bacteria in the oral cavity and aiding in mastication, speech, and swallowing. Binds P.aeruginosa pili. N- and O-glycosylated. Contains fucose, mannose, galactose, N-acetylglucosamine and N-acetylgalactosamine. NA Salivary secretion;O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1) PE1 4 +NX_Q8TAX9 Gasdermin-B 411 46786 5.15 0 Nucleoplasm;Cytosol;Cytoplasm;Cell membrane NA The N-terminal moiety promotes pyroptosis. May be acting by homooligomerizing within the membrane and forming pores (PubMed:27281216). The physiological relevance of this observation is unknown (Probable). NA Belongs to the gasdermin family. NA PE1 17 +NX_Q8TAY7 Protein FAM110D 271 28710 10.08 0 NA NA NA NA Belongs to the FAM110 family. NA PE2 1 +NX_Q8TAZ6 CKLF-like MARVEL transmembrane domain-containing protein 2 248 27496 9.91 3 Membrane NA NA NA Belongs to the chemokine-like factor family. NA PE1 16 +NX_Q8TB03 Uncharacterized protein CXorf38 319 36670 5.92 0 Cytosol NA NA NA NA NA PE1 X +NX_Q8TB05 UBA-like domain-containing protein 1 177 18954 6.13 0 Nucleoplasm;Cytosol;Cell junction NA NA NA Belongs to the UBALD family. NA PE1 16 +NX_Q8TB22 Spermatogenesis-associated protein 20 786 87899 7.08 0 Nucleoplasm;Secreted NA May play a role in fertility regulation. NA NA NA PE1 17 +NX_Q8TB24 Ras and Rab interactor 3 985 107854 6.17 0 Cytoplasm;Early endosome;Cytoplasmic vesicle NA Ras effector protein that functions as a guanine nucleotide exchange (GEF) for RAB5B and RAB31, by exchanging bound GDP for free GTP. Required for normal RAB31 function. NA Belongs to the RIN (Ras interaction/interference) family. RAB GEFs exchange GTP for GDP on RABs PE1 14 +NX_Q8TB33 Putative uncharacterized protein encoded by LINC01560 94 10359 11.18 0 NA NA NA NA NA NA PE4 X +NX_Q8TB36 Ganglioside-induced differentiation-associated protein 1 358 41346 8.48 2 Mitochondrion outer membrane;Cytoplasm;Cytosol;Mitochondrion Charcot-Marie-Tooth disease, recessive, intermediate type, A;Charcot-Marie-Tooth disease 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease 2K Regulates the mitochondrial network by promoting mitochondrial fission. Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. Belongs to the GST superfamily. Class I peroxisomal membrane protein import PE1 8 +NX_Q8TB37 Iron-sulfur protein NUBPL 319 34083 9.17 0 Mitochondrion Mitochondrial complex I deficiency, nuclear type 21 Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). May deliver of one or more Fe-S clusters to complex I subunits. NA Belongs to the Mrp/NBP35 ATP-binding proteins family. Complex I biogenesis PE1 14 +NX_Q8TB40 (Lyso)-N-acylphosphatidylethanolamine lipase 342 38794 7.13 0 Nucleoplasm NA Lysophospholipase selective for N-acyl phosphatidylethanolamine (NAPE). Contributes to the biosynthesis of N-acyl ethanolamines, including the endocannabinoid anandamide by hydrolyzing the sn-1 and sn-2 acyl chains from N-acyl phosphatidylethanolamine (NAPE) generating glycerophospho-N-acyl ethanolamine (GP-NAE), an intermediate for N-acyl ethanolamine biosynthesis. Hydrolyzes substrates bearing saturated, monounsaturated, polyunsaturated N-acyl chains. Shows no significant activity towards other lysophospholipids, including lysophosphatidylcholine, lysophosphatidylethanolamine and lysophosphatidylserine. NA Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily. Acyl chain remodelling of PE PE1 14 +NX_Q8TB45 DEP domain-containing mTOR-interacting protein 409 46294 8.29 0 Cytoplasm;Nucleoplasm;Mitochondrion;Nucleus NA Negative regulator of the mTORC1 and mTORC2 signaling pathways. Inhibits the kinase activity of both complexes. Ubiquitinated; ubiquitination leads to proteasomal degradation.;Phosphorylated. Phosphorylation weakens interaction with MTOR within mTORC1 and mTORC2. NA NA PE1 8 +NX_Q8TB52 F-box only protein 30 745 82304 5.21 0 Cytoskeleton NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Required for muscle atrophy following denervation. Auto-ubiquitinated.;May be neddylated. Neddylation may be required for E3 ligase activity (By similarity). NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 6 +NX_Q8TB61 Adenosine 3'-phospho 5'-phosphosulfate transporter 1 432 47515 9.32 9 Cytoplasmic vesicle;Golgi apparatus membrane NA Mediates the transport of adenosine 3'-phospho 5'-phosphosulfate (PAPS), from cytosol into Golgi. PAPS is a universal sulfuryl donor for sulfation events that take place in the Golgi. May indirectly participate in activation of the NF-kappa-B and MAPK pathways. NA Belongs to the nucleotide-sugar transporter family. SLC35B subfamily. Transport and synthesis of PAPS;Transport of nucleotide sugars PE1 6 +NX_Q8TB68 Proline-rich protein 7 274 30930 8.91 1 Postsynaptic cell membrane;Cell membrane;Nucleoplasm;Synapse;Dendrite;Cytosol;Perinuclear region;Nucleus NA Acts as a synapse-to-nucleus messenger to promote NMDA receptor-mediated excitotoxicity in neurons in a JUN-dependent manner (By similarity). Inhibits ubiquitination-mediated degradation and promotes phosphorylation and transcriptional activity of transcription factor JUN (PubMed:27458189). Might play a redundant role in the regulation of T cell receptor signaling (PubMed:21460222). Might promote apoptosis in T cells (PubMed:21460222). Palmitoylated.;Tyrosine phosphorylated, possibly by SRC. NA NA PE1 5 +NX_Q8TB69 Zinc finger protein 519 540 63020 9.48 0 Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 18 +NX_Q8TB72 Pumilio homolog 2 1066 114216 6.61 0 Cytoplasm;Cytosol;Cytoplasmic granule;Perinuclear region NA Sequence-specific RNA-binding protein that acts as a post-transcriptional repressor by binding the 3'-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5'-UGUANAUA-3', that is related to the Nanos Response Element (NRE) (, PubMed:21397187). Mediates post-transcriptional repression of transcripts via different mechanisms: acts via direct recruitment of the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation (PubMed:22955276). Also mediates deadenylation-independent repression by promoting accessibility of miRNAs (PubMed:18776931, PubMed:22345517). Acts as a post-transcriptional repressor of E2F3 mRNAs by binding to its 3'-UTR and facilitating miRNA regulation (PubMed:22345517). Plays a role in cytoplasmic sensing of viral infection (PubMed:25340845). Represses a program of genes necessary to maintain genomic stability such as key mitotic, DNA repair and DNA replication factors. Its ability to repress those target mRNAs is regulated by the lncRNA NORAD (non-coding RNA activated by DNA damage) which, due to its high abundance and multitude of PUMILIO binding sites, is able to sequester a significant fraction of PUM1 and PUM2 in the cytoplasm (PubMed:26724866). May regulate DCUN1D3 mRNA levels (PubMed:25349211). May support proliferation and self-renewal of stem cells. Binds specifically to miRNA MIR199A precursor, with PUM1, regulates miRNA MIR199A expression at a postranscriptional level (PubMed:28431233). NA NA Neddylation PE1 2 +NX_Q8TB73 Protein NDNF 568 64673 9.07 0 Cytoplasmic vesicle;Secreted NA Promotes matrix assembly and cell adhesiveness (By similarity). Promotes neuron migration, growth and survival as well as neurite outgrowth (PubMed:20969804). Promotes endothelial cell survival, vessel formation and plays an important role in the process of revascularization through NOS3-dependent mechanisms (PubMed:24706764). O-glycosylated; contains heparan sulfate and chondroitin sulfate.;N-glycosylated. NA NA PE1 4 +NX_Q8TB92 3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic 370 39514 6.12 0 Cytosol;Endoplasmic reticulum membrane NA Non-mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis, the products of which support energy production in nonhepatic animal tissues. NA Belongs to the HMG-CoA lyase family. Metabolic intermediate metabolism; (S)-3-hydroxy-3-methylglutaryl-CoA degradation; acetoacetate from (S)-3-hydroxy-3-methylglutaryl-CoA: step 1/1.;Synthesis of Ketone Bodies PE1 6 +NX_Q8TB96 T-cell immunomodulatory protein 612 68108 5.15 1 Membrane;Cytosol;Secreted;Cytoskeleton NA Modulator of T-cell function. Has a protective effect in graft versus host disease model (By similarity). NA Belongs to the TIP family. NA PE1 16 +NX_Q8TBA6 Golgin subfamily A member 5 731 83024 5.6 1 Golgi apparatus;Golgi apparatus membrane NA Involved in maintaining Golgi structure. Stimulates the formation of Golgi stacks and ribbons. Involved in intra-Golgi retrograde transport. Highly phosphorylated during mitosis. Phosphorylation is barely detectable during interphase. NA Intra-Golgi traffic PE1 14 +NX_Q8TBB0 THAP domain-containing protein 6 222 25691 8.99 0 Nucleoplasm;Centrosome;Nucleus NA NA NA NA NA PE1 4 +NX_Q8TBB1 E3 ubiquitin-protein ligase LNX 728 80629 6.67 0 Cytoplasm;Cytosol;Cell junction NA Provides an endocytic scaffold for IGSF5/JAM4.;E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NUMB. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of isoform p66 and isoform p72 of NUMB, but not that of isoform p71 or isoform p65. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 4 +NX_Q8TBB5 Kelch domain-containing protein 4 520 57892 5.52 0 Nucleolus NA NA NA NA NA PE1 16 +NX_Q8TBB6 Probable cationic amino acid transporter 771 84052 5.13 15 Cell membrane;Lysosome membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol Retinitis pigmentosa 68 May be involved in arginine transport. NA Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family. NA PE1 3 +NX_Q8TBC3 SH3KBP1-binding protein 1 707 76344 8.58 0 Cell junction;Lysosome NA Inhibits CBL-SH3KBP1 complex mediated down-regulation of EGFR signaling by sequestration of SH3KBP1. Binds to SH3KBP1 and prevents its interaction with CBL and inhibits translocation of SH3KBP1 to EGFR containing vesicles upon EGF stimulation. NA Belongs to the KCTD3 family. NA PE1 19 +NX_Q8TBC4 NEDD8-activating enzyme E1 catalytic subunit 463 51852 5.3 0 Cell membrane;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Catalytic subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Down-regulates steroid receptor activity. Necessary for cell cycle progression. NA Belongs to the ubiquitin-activating E1 family. UBA3 subfamily. Protein modification; protein neddylation.;Ubiquitin mediated proteolysis;Dectin-1 mediated noncanonical NF-kB signaling;NIK-->noncanonical NF-kB signaling;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 3 +NX_Q8TBC5 Zinc finger and SCAN domain-containing protein 18 510 54804 4.76 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q8TBE0 Bromo adjacent homology domain-containing 1 protein 780 84652 9.27 0 Nucleoplasm;Nucleus;Chromosome NA Heterochromatin protein that acts as a transcription repressor and has the ability to promote the formation of large heterochromatic domains. May act by recruiting heterochromatin proteins such as CBX5 (HP1 alpha), HDAC5 and MBD1. Represses IGF2 expression by binding to its CpG-rich P3 promoter and recruiting heterochromatin proteins. At specific stages of Listeria infection, in complex with TRIM28, corepresses interferon-stimulated genes, including IFNL1, IFNL2 and IFNL3. NA NA NA PE1 15 +NX_Q8TBE1 Protein cornichon homolog 3 160 18976 6.17 3 Postsynaptic cell membrane NA Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by regulating their rates of activation, deactivation and desensitization. NA Belongs to the cornichon family. COPII-mediated vesicle transport;Cargo concentration in the ER PE2 1 +NX_Q8TBE3 Fibronectin type III domain-containing protein 9 224 25275 5.33 1 Membrane NA NA NA NA NA PE2 5 +NX_Q8TBE7 Solute carrier family 35 member G2 412 46422 6.99 10 Endosome;Cell membrane NA May play a role in cell proliferation. NA Belongs to the SLC35G solute transporter family. NA PE1 3 +NX_Q8TBE9 N-acylneuraminate-9-phosphatase 248 27813 6.01 0 Nucleus membrane NA NA NA Belongs to the HAD-like hydrolase superfamily. NANP family. Amino-sugar metabolism; N-acetylneuraminate biosynthesis.;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Sialic acid metabolism PE1 20 +NX_Q8TBF2 Prostamide/prostaglandin F synthase 198 21223 6.2 0 Cytosol NA Catalyzes the reduction of prostaglandin-ethanolamide H(2) (prostamide H(2)) to prostamide F(2alpha) with NADPH as proton donor. Also able to reduce prostaglandin H(2) to prostaglandin F(2alpha) (By similarity). NA Belongs to the peroxiredoxin-like PRXL2 family. Prostamide/prostaglandin F synthase subfamily. Synthesis of Prostaglandins (PG) and Thromboxanes (TX) PE1 1 +NX_Q8TBF4 Zinc finger CCHC-type and RNA-binding motif-containing protein 1 217 24592 8.69 0 Nucleoplasm NA NA NA NA mRNA Splicing - Minor Pathway PE1 12 +NX_Q8TBF5 Phosphatidylinositol-glycan biosynthesis class X protein 258 28788 5.91 1 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane NA Essential component of glycosylphosphatidylinositol-mannosyltransferase 1 which transfers the first of the 4 mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Probably acts by stabilizing the mannosyltransferase PIGM (By similarity). N-glycosylated. Belongs to the PIGX family. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Synthesis of glycosylphosphatidylinositol (GPI) PE1 3 +NX_Q8TBF8 Protein FAM81A 368 42392 8.98 0 Nucleoplasm;Cytosol NA NA NA Belongs to the FAM81 family. NA PE1 15 +NX_Q8TBG4 Ethanolamine-phosphate phospho-lyase 499 55671 8.32 0 Nucleoplasm;Mitochondrion NA Catalyzes the pyridoxal-phosphate-dependent breakdown of phosphoethanolamine, converting it to ammonia, inorganic phosphate and acetaldehyde. NA Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family. Synthesis of PE PE1 4 +NX_Q8TBG9 Synaptoporin 265 29166 6.07 4 Golgi apparatus;Synaptic vesicle membrane;Synaptosome;Cell membrane NA Intrinsic membrane protein of small synaptic vesicles. Probable vesicular channel protein (By similarity). NA Belongs to the synaptophysin/synaptobrevin family. NA PE1 3 +NX_Q8TBH0 Arrestin domain-containing protein 2 407 44379 9.33 0 Nucleoplasm NA NA NA Belongs to the arrestin family. NA PE1 19 +NX_Q8TBJ4 Phospholipid phosphatase-related protein type 1 325 35795 7.04 6 Membrane;Nucleoplasm NA NA NA Belongs to the PA-phosphatase related phosphoesterase family. Lysosphingolipid and LPA receptors PE1 9 +NX_Q8TBJ5 Fez family zinc finger protein 2 459 48811 9.52 0 Nucleus NA Transcription repressor. Required for the specification of corticospinal motor neurons and other subcerebral projection neurons. May play a role in layer and neuronal subtype-specific patterning of subcortical projections and axonal fasciculation. Controls the development of dendritic arborization and spines of large layer V pyramidal neurons. May be involved in innate immunity (By similarity). NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 3 +NX_Q8TBK2 N-lysine methyltransferase SETD6 473 53189 5.24 0 Nucleoplasm;Cytosol;Nucleus NA Protein-lysine N-methyltransferase. Monomethylates 'Lys-310' of the RELA subunit of NF-kappa-B complex, leading to down-regulate NF-kappa-B transcription factor activity (PubMed:21131967). Monomethylates 'Lys-8' of H2AZ (H2AZK8me1) (PubMed:23324626). Required for the maintenance of embryonic stem cell self-renewal (By similarity). NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SETD6 subfamily. PKMTs methylate histone lysines PE1 16 +NX_Q8TBK6 Zinc finger CCHC domain-containing protein 10 192 20967 8.69 0 Nucleoplasm;Nucleolus NA NA NA NA NA PE1 5 +NX_Q8TBM7 Transmembrane protein 254 123 14243 9.7 3 Membrane;Nucleoplasm;Cell membrane NA NA NA NA NA PE1 10 +NX_Q8TBM8 DnaJ homolog subfamily B member 14 379 42516 8.79 1 Endoplasmic reticulum membrane;Nucleus membrane NA (Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection (PubMed:21673190, PubMed:24675744).;Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum-associated degradation (ERAD) pathway (PubMed:24732912). Acts by determining HSPA8/Hsc70's ATPase and polypeptide-binding activities (PubMed:24732912). Can also act independently of HSPA8/Hsc70: together with DNAJB12, acts as a chaperone that promotes maturation of potassium channels KCND2 and KCNH2 by stabilizing nascent channel subunits and assembling them into tetramers (PubMed:27916661). While stabilization of nascent channel proteins is dependent on HSPA8/Hsc70, the process of oligomerization of channel subunits is independent of HSPA8/Hsc70 (PubMed:27916661). When overexpressed, forms membranous structures together with DNAJB12 and HSPA8/Hsc70 within the nucleus; the role of these structures, named DJANGOs, is still unclear (PubMed:24732912). NA Belongs to the DnaJ family. DNAJB12/DNAJB14 subfamily. NA PE1 4 +NX_Q8TBN0 Guanine nucleotide exchange factor for Rab-3A 382 42637 6.07 0 Cytosol;Centriolar satellite NA Guanine nucleotide exchange factor (GEF) which may activate RAB3A, a GTPase that regulates synaptic vesicle exocytosis. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May also activate RAB8A and RAB8B. NA Belongs to the SEC2 family. RAB GEFs exchange GTP for GDP on RABs PE1 11 +NX_Q8TBP0 TBC1 domain family member 16 767 86372 5.55 0 Cytoskeleton NA May act as a GTPase-activating protein for Rab family protein(s). NA NA TBC/RABGAPs PE1 17 +NX_Q8TBP5 Membrane protein FAM174A 190 19954 5.92 1 Membrane;Golgi apparatus;Cytosol NA NA NA Belongs to the FAM174 family. NA PE1 5 +NX_Q8TBP6 Solute carrier family 25 member 40 338 38125 9.43 6 Mitochondrion inner membrane NA NA NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 7 +NX_Q8TBQ9 Protein kish-A 72 8060 9.26 1 Cytoplasmic vesicle;Golgi apparatus membrane NA Involved in the early part of the secretory pathway. NA Belongs to the KISH family. NA PE1 5 +NX_Q8TBR4 Putative STAG3-like protein 4 150 17020 5.92 0 NA NA NA NA Belongs to the SCC3 family. NA PE5 7 +NX_Q8TBR5 Putative uncharacterized protein CIRBP-AS1 109 12399 12.01 0 NA NA NA NA NA NA PE5 19 +NX_Q8TBR7 TLC domain-containing protein 3A 257 29383 9.57 7 Cell membrane NA NA NA NA NA PE1 17 +NX_Q8TBX8 Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma 421 47300 6.36 0 Membrane;Cytoplasmic vesicle;Cytoplasm NA May play an important role in the production of Phosphatidylinositol bisphosphate (PIP2), in the endoplasmic reticulum. NA NA Inositol phosphate metabolism;Phosphatidylinositol signaling system;Regulation of actin cytoskeleton;Synthesis of PIPs at the plasma membrane;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;PI5P Regulates TP53 Acetylation;Synthesis of PIPs in the nucleus PE1 12 +NX_Q8TBY0 Probable RNA-binding protein 46 533 60023 7.56 0 NA NA NA NA NA NA PE1 4 +NX_Q8TBY8 Polyamine-modulated factor 1-binding protein 1 1007 117494 5.94 0 Endoplasmic reticulum;Flagellum Spermatogenic failure 31 Required for normal spermatogenesis (PubMed:1770140, PubMed:30032984, PubMed:30298696). It functions as a scaffold protein that attaches the sperm head-tail connecting piece to the nuclear envelope, thus maintaining sperm head and tail integrity (PubMed:30032984). May also be involved in the general organization of cellular cytoskeleton (By similarity). NA NA NA PE1 16 +NX_Q8TBY9 Cilia- and flagella-associated protein 251 1149 129952 4.99 0 Golgi apparatus;Cell membrane;Cilium axoneme;Flagellum;Cytosol Spermatogenic failure 33 Involved in spermatozoa motility (PubMed:30122540, PubMed:30122541). May also regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity). NA NA NA PE1 12 +NX_Q8TBZ0 Coiled-coil domain-containing protein 110 833 96726 5.88 0 Nucleus NA NA NA NA NA PE1 4 +NX_Q8TBZ2 MYCBP-associated protein 947 108153 7.13 0 Membrane;Cytoplasm;Cytoplasmic vesicle NA May play a role in spermatogenesis. May be involved in synaptic processes (By similarity). NA NA NA PE1 17 +NX_Q8TBZ3 WD repeat-containing protein 20 569 62893 8.26 0 NA NA Regulator of deubiquitinating complexes. Activates deubiquitinating activity of complexes containing USP12 (PubMed:20147737, PubMed:27373336). Anchors at the base of the ubiquitin-contacting loop of USP12 and remotely modulates the catalytic center of the enzyme (PubMed:27373336). NA NA Ub-specific processing proteases PE1 14 +NX_Q8TBZ5 Zinc finger protein 502 544 62920 9.02 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 3 +NX_Q8TBZ6 tRNA methyltransferase 10 homolog A 339 39719 7.29 0 Nucleolus;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton Microcephaly, short stature, and impaired glucose metabolism 1 S-adenosyl-L-methionine-dependent guanine N(1)-methyltransferase that catalyzes the formation of N(1)-methylguanine at position 9 (m1G9) in tRNAs (PubMed:23042678, PubMed:25053765). Probably not able to catalyze formation of N(1)-methyladenine at position 9 (m1A9) in tRNAs (PubMed:23042678). NA Belongs to the class IV-like SAM-binding methyltransferase superfamily. TRM10 family. tRNA modification in the nucleus and cytosol PE1 4 +NX_Q8TBZ8 Zinc finger protein 564 553 63735 8.99 0 Golgi apparatus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8TBZ9 Testis-expressed protein 47 253 29483 7.21 0 Nucleoplasm;Mitochondrion NA NA NA NA NA PE1 7 +NX_Q8TC05 Nuclear protein MDM1 714 80735 9.16 0 Cytosol;Centrosome;Nucleus;Centriole NA Microtubule-binding protein that negatively regulates centriole duplication. Binds to and stabilizes microtubules (PubMed:26337392). NA Belongs to the MDM1 family. NA PE1 12 +NX_Q8TC07 TBC1 domain family member 15 691 79491 5.44 0 Cytoplasm;Cytosol;Mitochondrion NA Acts as a GTPase activating protein for RAB7A. Does not act on RAB4, RAB5 or RAB6 (By similarity). NA NA TBC/RABGAPs PE1 12 +NX_Q8TC12 Retinol dehydrogenase 11 318 35386 9.05 1 Endoplasmic reticulum membrane Retinal dystrophy, juvenile cataracts, and short stature syndrome Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol, and to a lesser extent on 13-cis-retinol (PubMed:12226107, PubMed:12036956, PubMed:29410696). Exhibits a low reductive activity towards unsaturated medium-chain aldehydes such as cis -6-nonenal and no activity toward nonanal or 4-hydroxy-nonenal (PubMed:15865448). Has no dehydrogenase activity towards steroid (PubMed:12226107, PubMed:12036956). Not glycosylated. Belongs to the short-chain dehydrogenases/reductases (SDR) family. Cofactor metabolism; retinol metabolism.;Retinol metabolism;Metabolic pathways;The canonical retinoid cycle in rods (twilight vision);RA biosynthesis pathway;Retinoid metabolism and transport PE1 14 +NX_Q8TC17 GRB2-related adapter protein-like 118 13442 7.89 0 NA NA NA NA Belongs to the GRB2/sem-5/DRK family. NA PE2 17 +NX_Q8TC20 Cancer-associated gene 1 protein 777 90250 5.21 0 NA NA NA NA NA NA PE1 6 +NX_Q8TC21 Zinc finger protein 596 504 58513 9.19 0 Nucleolus;Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 8 +NX_Q8TC26 Transmembrane protein 163 289 31469 7.06 6 Early endosome membrane;Synaptic vesicle membrane NA May bind zinc and other divalent cations and recruit them to vesicular organelles. NA Belongs to the TMEM163 family. NA PE1 2 +NX_Q8TC27 Disintegrin and metalloproteinase domain-containing protein 32 787 87948 5.39 1 Membrane;Nucleoplasm;Cytoplasmic vesicle NA May play a role in sperm development and fertilization This is a non-catalytic metalloprotease-like protein. NA NA NA PE1 8 +NX_Q8TC29 Enkurin 256 29454 9.34 0 Flagellum NA Adapter that functions to localize a calcium-sensitive signal transduction machinery in sperm to a calcium-permeable ion channel. NA NA NA PE1 10 +NX_Q8TC36 SUN domain-containing protein 5 379 43081 8.61 1 Golgi apparatus;Nucleus inner membrane Spermatogenic failure 16 Plays an essential role in anchoring sperm head to the tail. Is responsible for the attachment of the coupling apparatus to the sperm nuclear envelope. Highly glycosylated in the Golgi apparatus during spermiogenesis. NA NA PE1 20 +NX_Q8TC41 Probable E3 ubiquitin-protein ligase RNF217 542 59372 7.65 1 Membrane NA E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. NA Belongs to the RBR family. RNF217 subfamily. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 6 +NX_Q8TC44 POC1 centriolar protein homolog B 478 53668 6.79 0 Spindle pole;Centrosome;Cilium basal body;Centriole Cone-rod dystrophy 20 Plays an important role in centriole assembly and/or stability and ciliogenesis (PubMed:20008567). Involved in early steps of centriole duplication, as well as in the later steps of centriole length control (PubMed:19109428). Acts in concert with POC1A to ensure centriole integrity and proper mitotic spindle formation. Required for primary cilia formation, ciliary length and also cell proliferation (PubMed:23015594). Required for retinal integrity (PubMed:25044745). Phosphorylated in mitotic cells that may be mediated by CDK1. Belongs to the WD repeat POC1 family. NA PE1 12 +NX_Q8TC56 Protein FAM71B 605 64756 9.52 0 Nucleus NA May be involved in RNA biogenesis. NA Belongs to the FAM71 family. NA PE1 5 +NX_Q8TC57 Meiosis 1 arrest protein 530 59386 6.4 0 Cytoplasm;Mitochondrion;Nucleolus NA Required for meiosis I progression during spermatogenesis. NA NA NA PE1 2 +NX_Q8TC59 Piwi-like protein 2 973 109849 9.16 0 Cytoplasm NA Endoribonuclease that plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Plays an essential role in meiotic differentiation of spermatocytes, germ cell differentiation and in self-renewal of spermatogonial stem cells (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons (By similarity). During piRNA biosynthesis, plays a key role in the piRNA amplification loop, also named ping-pong amplification cycle, by acting as a 'slicer-competent' piRNA endoribonuclease that cleaves primary piRNAs, which are then loaded onto 'slicer-incompetent' PIWIL4 (By similarity). PIWIL2 slicing produces a pre-miRNA intermediate, which is then processed in mature piRNAs, and as well as a 16 nucleotide by-product that is degraded (By similarity). Required for PIWIL4/MIWI2 nuclear localization and association with secondary piRNAs antisense (By similarity). Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation (By similarity). Indirectly modulates expression of genes such as PDGFRB, SLC2A1, ITGA6, GJA7, THY1, CD9 and STRA8 (By similarity). When overexpressed, acts as an oncogene by inhibition of apoptosis and promotion of proliferation in tumors (PubMed:16377660). Represses circadian rhythms by promoting the stability and activity of core clock components ARNTL/BMAL1 and CLOCK by inhibiting GSK3B-mediated phosphorylation and ubiquitination-dependent degradation of these proteins (PubMed:28903391). Arginine methylation by PRMT5 is required for the interaction with Tudor domain-containing protein TDRD1 and subsequent localization to the meiotic nuage, also named P granule. Belongs to the argonaute family. Piwi subfamily. Dorso-ventral axis formation;PIWI-interacting RNA (piRNA) biogenesis PE1 8 +NX_Q8TC71 Mitochondria-eating protein 538 61109 8.93 0 Mitochondrion outer membrane;Cytoplasm;Mitochondrion NA Key regulator of mitochondrial quality that mediates the repairing or degradation of unhealthy mitochondria in response to mitochondrial damage. Mediator of mitochondrial protein catabolic process (also named MALM) by mediating the degradation of damaged proteins inside mitochondria by promoting the accumulation in the mitochondrial matrix of hydrolases that are characteristic of the lysosomal lumen. Also involved in mitochondrion degradation of damaged mitochondria by promoting the formation of vacuole-like structures (named MIV), which engulf and degrade unhealthy mitochondria by accumulating lysosomes. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix. NA Belongs to the MIEAP family. NA PE1 4 +NX_Q8TC76 Protein FAM110B 370 40728 9.45 0 Cytoplasm;Cytosol;Mitochondrion;Centrosome NA May be involved in tumor progression. NA Belongs to the FAM110 family. NA PE1 8 +NX_Q8TC84 Fibronectin type 3 and ankyrin repeat domains protein 1 345 38341 8.93 0 Cilium;Cilium basal body;Nucleoplasm;Cytosol;Nucleus NA Through the activation of JUN and AP-1-mediated transcription, may regulate apoptosis. Polyubiquitinated. Polyubiquitination leads to proteasomal degradation. NA NA PE1 10 +NX_Q8TC90 Coiled-coil domain-containing glutamate-rich protein 1 406 46482 4.64 0 NA NA NA NA NA NA PE1 12 +NX_Q8TC92 Ecto-NOX disulfide-thiol exchanger 1 643 73348 5.4 0 Cell membrane;Extracellular space NA Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide-thiol interchange/oxidoreductase activity which may control physical membrane displacements associated with vesicle budding or cell enlargement. The activities oscillate with a period length of 24 minutes and play a role in control of the ultradian cellular biological clock. NA Belongs to the ENOX family. NA PE1 13 +NX_Q8TC94 Actin-like protein 9 416 45627 6.61 0 Cytoskeleton NA NA NA Belongs to the actin family. NA PE1 19 +NX_Q8TC99 Fibronectin type III domain-containing protein 8 324 35921 5.01 0 NA NA NA NA NA NA PE1 17 +NX_Q8TCA0 Leucine-rich repeat-containing protein 20 184 20509 6.11 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 10 +NX_Q8TCB0 Interferon-induced protein 44 444 50491 6.44 0 Cytoplasm;Nucleoplasm NA This protein aggregates to form microtubular structures. NA Belongs to the IFI44 family. NA PE1 1 +NX_Q8TCB6 Olfactory receptor 51E1 317 35271 8.71 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8TCB7 tRNA N(3)-methylcytidine methyltransferase METTL6 284 33251 5.85 0 Cytoplasmic vesicle NA S-adenosyl-L-methionine-dependent methyltransferase that mediates N(3)-methylcytidine modification of residue 32 of the tRNA anticodon loop of tRNA(Ser). NA Belongs to the methyltransferase superfamily. METL family. Histidine metabolism;Tyrosine metabolism PE1 3 +NX_Q8TCC3 39S ribosomal protein L30, mitochondrial 161 18546 10.01 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uL30 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 2 +NX_Q8TCC7 Solute carrier family 22 member 8 542 59856 9.07 11 Basolateral cell membrane NA Plays an important role in the excretion/detoxification of endogenous and exogenous organic anions, especially from the brain and kidney. Involved in the transport basolateral of steviol, fexofenadine. Transports benzylpenicillin (PCG), estrone-3-sulfate (E1S), cimetidine (CMD), 2,4-dichloro-phenoxyacetate (2,4-D), p-amino-hippurate (PAH), acyclovir (ACV) and ochratoxin (OTA). NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. Bile secretion;Organic anion transport PE1 11 +NX_Q8TCD1 UPF0729 protein C18orf32 76 8669 9.24 0 Cytoplasmic vesicle;Nucleoplasm NA May activate the NF-kappa-B signaling pathway. NA Belongs to the UPF0729 family. NA PE1 18 +NX_Q8TCD5 5'(3')-deoxyribonucleotidase, cytosolic type 201 23383 6.18 0 Cytoplasm;Cytosol NA Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides, with a preference for dUMP and dTMP, intermediate activity towards dGMP, and low activity towards dCMP and dAMP. NA Belongs to the 5'(3')-deoxyribonucleotidase family. Purine metabolism;Pyrimidine metabolism;Nicotinate and nicotinamide metabolism;Metabolic pathways;Pyrimidine catabolism;Purine catabolism PE1 17 +NX_Q8TCD6 Pyridoxal phosphate phosphatase PHOSPHO2 241 27769 6.31 0 Cytoplasmic vesicle NA Phosphatase that has high activity toward pyridoxal 5'-phosphate (PLP). Also active at much lower level toward pyrophosphate, phosphoethanolamine (PEA), phosphocholine (PCho), phospho-l-tyrosine, fructose-6-phosphate, p-nitrophenyl phosphate, and h-glycerophosphate. NA Belongs to the HAD-like hydrolase superfamily. PHOSPHO family. Vitamin B6 metabolism;Metabolic pathways PE1 2 +NX_Q8TCE6 DENN domain-containing protein 10 357 40513 6.15 0 Late endosome NA Guanine nucleotide exchange factor (GEF) regulating homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion, possibly through activating Rab proteins such as RAB27A and RAB27B. Seems to promote the exchange of GDP to GTP, converting inactive GDP-bound RAB27A and RAB27B into their active GTP-bound form. NA Belongs to the DENND10 family. NA PE1 10 +NX_Q8TCE9 Placental protein 13-like 139 16094 6.4 0 Nucleoplasm;Nucleus NA Binds beta-galactoside and lactose. Strong inducer of T-cell apoptosis. NA NA NA PE1 19 +NX_Q8TCF1 AN1-type zinc finger protein 1 268 30787 7.14 0 Cytosol;Stress granule;Centrosome NA Plays a role in the regulation of cytoplasmic stress granules (SGs) turnover. SGs are dynamic and transient cytoplasmic ribonucleoprotein assemblies important for cellular protein homeostasis when protein production is suspended after acute exogenous stress (PubMed:29804830). Associates with SGs and is involved in the efficient and specific arsenite-induced clearance process of SGs through the recruitment of the ubiquitin-selective ATPase VCP and the 26S proteasome (PubMed:29804830). This process requires both complexes for efficient degradation of damaged ubiquitinated SG proteins during recovery from arsenite stress, and hence avoiding aberrant cytoplasmic SGs degradation via autophagy (PubMed:29804830). NA NA NA PE1 8 +NX_Q8TCG1 Protein CIP2A 905 102185 5.85 1 Membrane;Cytoplasm;Cytosol;Cell membrane NA Oncoprotein that inhibits PP2A and stabilizes MYC in human malignancies. Promotes anchorage-independent cell growth and tumor formation. NA NA NA PE1 3 +NX_Q8TCG2 Phosphatidylinositol 4-kinase type 2-beta 481 54744 5.71 0 Membrane;Cytoplasm;Cytosol NA Together with PI4K2A and the type III PI4Ks (PIK4CA and PIK4CB) it contributes to the overall PI4-kinase activity of the cell. This contribution may be especially significant in plasma membrane, endosomal and Golgi compartments. The phosphorylation of phosphatidylinositol (PI) to PI4P is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second messenger inositol 1,4,5-trisphosphate (InsP3). Contributes to the production of InsP3 in stimulated cells and is likely to be involved in the regulation of vesicular trafficking. NA Belongs to the PI3/PI4-kinase family. Type II PI4K subfamily. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PIPs at the ER membrane;Synthesis of PIPs at the plasma membrane;Synthesis of PIPs at the Golgi membrane;Synthesis of PIPs at the early endosome membrane PE1 4 +NX_Q8TCG5 Carnitine O-palmitoyltransferase 1, brain isoform 803 90989 8.33 2 Mitochondrion outer membrane;Endoplasmic reticulum;Centrosome;Synapse;Axon;Dendrite Spastic paraplegia 73, autosomal dominant May play a role in lipid metabolic process. NA Belongs to the carnitine/choline acetyltransferase family. Lipid metabolism; fatty acid beta-oxidation.;Fatty acid metabolism;PPAR signaling pathway;Adipocytokine signaling pathway PE1 19 +NX_Q8TCH9 Putative uncharacterized protein FLJ23865 128 14227 7.15 0 NA NA NA NA NA NA PE2 22 +NX_Q8TCI5 Protein pitchfork 191 21973 9.91 0 trans-Golgi network;Cytoplasmic vesicle;Cytoplasm NA During primary cilia disassembly, involved in cilia disassembly. Required specifically to control cilia retraction as well as the liberation and duplication of the basal body/centrosome. May act by stimulating AURKA activity at the basal body in a cell cycle-dependent manner. NA NA NA PE1 1 +NX_Q8TCJ0 F-box only protein 25 367 43313 8.35 0 Nucleus NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) (By similarity). NA NA Protein modification; protein ubiquitination. PE1 8 +NX_Q8TCJ2 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B 826 93674 9.04 13 Endoplasmic reticulum;Endoplasmic reticulum membrane Congenital disorder of glycosylation 1X Catalytic subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. This subunit contains the active site and the acceptor peptide and donor lipid-linked oligosaccharide (LLO) binding pockets (By similarity). STT3B is present in a small subset of OST complexes and mediates both cotranslational and post-translational N-glycosylation of target proteins: STT3B-containing complexes are required for efficient post-translational glycosylation and while they are less competent than STT3A-containing complexes for cotranslational glycosylation, they have the ability to mediate glycosylation of some nascent sites that are not accessible for STT3A. STT3B-containing complexes also act post-translationally and mediate modification of skipped glycosylation sites in unfolded proteins. Plays a role in ER-associated degradation (ERAD) pathway that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins by mediating N-glycosylation of unfolded proteins, which are then recognized by the ERAD pathway and targeted for degradation. Mediates glycosylation of the disease variant AMYL-TTR 'Asp-38' of TTR at 'Asn-118', leading to its degradation (PubMed:19167329, PubMed:22607976). NA Belongs to the STT3 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Protein processing in endoplasmic reticulum PE1 3 +NX_Q8TCN5 Zinc finger protein 507 953 105767 5.47 0 Nucleolus;Nucleus;Cytosol NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q8TCP9 Protein FAM200A 573 66276 5.82 1 Membrane NA NA NA Belongs to the FAM200 family. NA PE1 7 +NX_Q8TCQ1 E3 ubiquitin-protein ligase MARCH1 289 32308 8.76 2 Mitochondrion;Cell membrane;Lysosome membrane;trans-Golgi network membrane;Cytoplasmic vesicle membrane;Early endosome membrane;Late endosome membrane NA E3 ubiquitin-protein ligase that mediates ubiquitination of TFRC, CD86, FAS and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. By constitutively ubiquitinating MHC class II proteins in immature dendritic cells, down-regulates their cell surface localization thus sequestering them in the intracellular endosomal system. Has a short half-life. Instability/short half-life permits rapid changes that allow efficient induction of antigen presentation once antigen presenting cells, APCs, receive maturation signals. Small changes in protein levels significantly alter the cell surface display of MHC class II proteins (By similarity). NA Protein modification; protein ubiquitination. PE1 4 +NX_Q8TCS8 Polyribonucleotide nucleotidyltransferase 1, mitochondrial 783 85951 7.87 0 Cytoplasm;Mitochondrion matrix;Mitochondrion intermembrane space;Mitochondrion Deafness, autosomal recessive, 70;Combined oxidative phosphorylation deficiency 13 RNA-binding protein implicated in numerous RNA metabolic processes. Catalyzes the phosphorolysis of single-stranded polyribonucleotides processively in the 3'-to-5' direction. Mitochondrial intermembrane factor with RNA-processing exoribonulease activity. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Involved in the degradation of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (PubMed:29967381). Required for correct processing and polyadenylation of mitochondrial mRNAs. Plays a role as a cytoplasmic RNA import factor that mediates the translocation of small RNA components, like the 5S RNA, the RNA subunit of ribonuclease P and the mitochondrial RNA-processing (MRP) RNA, into the mitochondrial matrix. Plays a role in mitochondrial morphogenesis and respiration; regulates the expression of the electron transport chain (ETC) components at the mRNA and protein levels. In the cytoplasm, shows a 3'-to-5' exoribonuclease mediating mRNA degradation activity; degrades c-myc mRNA upon treatment with IFNB1/IFN-beta, resulting in a growth arrest in melanoma cells. Regulates the stability of specific mature miRNAs in melanoma cells; specifically and selectively degrades miR-221, preferentially. Plays also a role in RNA cell surveillance by cleaning up oxidized RNAs. Binds to the RNA subunit of ribonuclease P, MRP RNA and miR-221 microRNA. NA Belongs to the polyribonucleotide nucleotidyltransferase family. Purine metabolism;Pyrimidine metabolism;RNA degradation PE1 2 +NX_Q8TCT0 Ceramide kinase 537 59977 8.54 0 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA Catalyzes specifically the phosphorylation of ceramide to form ceramide 1-phosphate (PubMed:11956206, PubMed:16269826, PubMed:19168031). Acts efficiently on natural and analog ceramides (C6, C8, C16 ceramides, and C8-dihydroceramide), to a lesser extent on C2-ceramide and C6-dihydroceramide, but not on other lipids, such as various sphingosines (PubMed:11956206, PubMed:16269826, PubMed:19168031). Shows a greater preference for D-erythro isomer of ceramides (PubMed:16269826). Binds phosphoinositides (PubMed:19168031). NA NA Sphingolipid metabolism;Glycosphingolipid metabolism PE1 22 +NX_Q8TCT1 Phosphoethanolamine/phosphocholine phosphatase 267 29713 7.64 0 Cell membrane;Cytoskeleton NA Phosphatase that has a high activity toward phosphoethanolamine (PEA) and phosphocholine (PCho). Involved in the generation of inorganic phosphate for bone mineralization. NA Belongs to the HAD-like hydrolase superfamily. PHOSPHO family. Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PC;Synthesis of PE PE1 17 +NX_Q8TCT6 Signal peptide peptidase-like 3 384 42261 8.64 9 Golgi apparatus;Endoplasmic reticulum membrane;Cell membrane;Membrane;Cytoplasmic vesicle NA Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane protein substrates in or close to their luminal transmembrane domain boundaries (PubMed:16873890, PubMed:25354954, PubMed:25827571). Acts like a sheddase by mediating the proteolytic release and secretion of active site-containing ectodomains of glycan-modifiying glycosidase and glycosyltransferase enzymes such as MGAT5, B4GAT1 and B4GALT1 (PubMed:25354954, PubMed:25827571). Catalyzes the intramembrane cleavage of the envelope glycoprotein gp130 and/or the leader peptide gp18LP of the simian foamy virus independent of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852). May also have the ability to serve as a shedding protease for subsequent intramembrane proteolysis by SPPL2A and SPPL2B of the envelope glycoprotein gp130 (PubMed:23132852). Plays a role in the regulation of cellular glycosylation processes (PubMed:25354954). Required to link T-cell antigen receptor (TCR) and calcineurin-NFAT signaling cascades in lymphocytes by promoting the association of STIM1 and ORAI1 during store-operated calcium entry (SOCE) in a protease-independent manner (PubMed:25384971). Not glycosylated (PubMed:15385547, PubMed:15998642). Belongs to the peptidase A22B family. NA PE1 12 +NX_Q8TCT7 Signal peptide peptidase-like 2B 592 64644 8.67 9 Cell membrane;Endosome membrane;Lysosome membrane;Membrane;Nucleoplasm;Centrosome;Golgi apparatus membrane NA Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in ITM2B and TNF processing (PubMed:16829952, PubMed:16829951, PubMed:17965014, PubMed:19114711, PubMed:22194595). Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF-alpha (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus (PubMed:16829952, PubMed:16829951). May play a role in the regulation of innate and adaptive immunity (PubMed:16829952). Catalyzes the intramembrane cleavage of the simian foamy virus processed leader peptide gp18 of the envelope glycoprotein gp130 dependently of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852). Glycosylated (PubMed:15385547, PubMed:15998642). Belongs to the peptidase A22B family. Regulation of TNFR1 signaling PE1 19 +NX_Q8TCT8 Signal peptide peptidase-like 2A 520 58143 8.65 9 Membrane;Cytoplasmic vesicle;Lysosome membrane;Late endosome membrane NA Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in FASLG, ITM2B and TNF processing (PubMed:16829952, PubMed:16829951, PubMed:17557115, PubMed:17965014). Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF-alpha (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus (PubMed:16829952). Also responsible for the intramembrane cleavage of Fas antigen ligand FASLG, which promotes the release of the intracellular FasL domain (FasL ICD) (PubMed:17557115). May play a role in the regulation of innate and adaptive immunity (PubMed:16829952). Catalyzes the intramembrane cleavage of the simian foamy virus envelope glycoprotein gp130 independently of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852). Glycosylated. Belongs to the peptidase A22B family. Regulation of TNFR1 signaling PE1 15 +NX_Q8TCT9 Minor histocompatibility antigen H13 377 41488 6 9 Membrane;Endoplasmic reticulum;Endoplasmic reticulum membrane;Cell membrane NA Catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein, resulting in the release of the fragment from the ER membrane into the cytoplasm. Required to generate lymphocyte cell surface (HLA-E) epitopes derived from MHC class I signal peptides (PubMed:11714810). May be necessary for the removal of the signal peptide that remains attached to the hepatitis C virus core protein after the initial proteolytic processing of the polyprotein (PubMed:12145199). Involved in the intramembrane cleavage of the integral membrane protein PSEN1 (PubMed:12077416, PubMed:11714810, PubMed:14741365). Cleaves the integral membrane protein XBP1 isoform 1 in a DERL1/RNF139-dependent manner (PubMed:25239945). May play a role in graft rejection (By similarity). N-glycosylated. Belongs to the peptidase A22B family. NA PE1 20 +NX_Q8TCU3 Solute carrier family 7 member 13 470 52114 9.08 12 Membrane NA Mediates the transport L-aspartate and L-glutamate in a sodium-independent manner. NA Belongs to the amino acid-polyamine-organocation (APC) superfamily. NA PE2 8 +NX_Q8TCU4 Alstrom syndrome protein 1 4168 461062 5.87 0 Cytoplasm;Cilium basal body;Nucleoplasm;Spindle pole;Centrosome;Cytosol Alstrom syndrome Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells. NA NA Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 2 +NX_Q8TCU5 Glutamate receptor ionotropic, NMDA 3A 1115 125465 7.4 3 Postsynaptic cell membrane;Postsynaptic density;Cell membrane NA NMDA receptor subtype of glutamate-gated ion channels with reduced single-channel conductance, low calcium permeability and low voltage-dependent sensitivity to magnesium. Mediated by glycine. May play a role in the development of dendritic spines. May play a role in PPP2CB-NMDAR mediated signaling mechanism (By similarity). N-glycosylated. Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR3A/GRIN3A subfamily. Neuroactive ligand-receptor interaction;Glutamatergic synapse;Assembly and cell surface presentation of NMDA receptors PE1 9 +NX_Q8TCU6 Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein 1659 186203 6.03 0 Cytoplasmic vesicle;Cytosol;Cytoplasm;Cell membrane NA Functions as a RAC guanine nucleotide exchange factor (GEF), which activates the Rac proteins by exchanging bound GDP for free GTP. Its activity is synergistically activated by phosphatidylinositol 3,4,5-trisphosphate and the beta gamma subunits of heterotrimeric G protein. May function downstream of heterotrimeric G proteins in neutrophils. NA NA Chemokine signaling pathway;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 20 +NX_Q8TCV5 WAP four-disulfide core domain protein 5 224 24238 8.4 0 Secreted NA Putative acid-stable proteinase inhibitor. NA NA NA PE1 20 +NX_Q8TCW7 Zona pellucida-like domain-containing protein 1 415 45530 7.92 1 Nucleoplasm;Extracellular matrix;Cytoplasmic vesicle membrane NA Glycoprotein which is a component of the gelatinous extracellular matrix in the cupulae of the vestibular organ. Proteolytically cleaved before the transmembrane segment to yield the secreted form found in the extracellular matrix of the cupula. NA NA PE1 3 +NX_Q8TCW9 Prokineticin receptor 1 393 44770 8.68 7 Cell membrane NA Receptor for prokineticin 1. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase. May play a role during early pregnancy. NA Belongs to the G-protein coupled receptor 1 family. Peptide ligand-binding receptors;G alpha (q) signalling events PE1 2 +NX_Q8TCX1 Cytoplasmic dynein 2 light intermediate chain 1 351 39625 7.1 0 Cytoplasm;Cilium;Cilium basal body;Centrosome;Cilium axoneme;Cytosol Short-rib thoracic dysplasia 15 with polydactyly Required for correct intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. Involved in the regulation of ciliary length. NA Belongs to the dynein light intermediate chain family. Vasopressin-regulated water reabsorption;Intraflagellar transport PE1 2 +NX_Q8TCX5 Rhophilin-1 670 73590 7.3 0 Nucleoplasm NA Has no enzymatic activity. May serve as a target for Rho, and interact with some cytoskeletal component upon Rho binding or relay a Rho signal to other molecules. NA Belongs to the RHPN family. RHO GTPases Activate Rhotekin and Rhophilins PE1 8 +NX_Q8TCY0 Small integral membrane protein 11B 68 7880 9.49 1 Membrane NA NA NA Belongs to the SMIM11 family. NA PE2 21 +NX_Q8TCY5 Melanocortin-2 receptor accessory protein 172 19136 7.75 1 Endoplasmic reticulum membrane;Cell membrane Glucocorticoid deficiency 2 Modulator of melanocortin receptors (MC1R, MC2R, MC3R, MC4R and MC5R). Acts by increasing ligand-sensitivity of melanocortin receptors and enhancing generation of cAMP by the receptors. Required both for MC2R trafficking to the cell surface of adrenal cells and for signaling in response to corticotropin (ACTH). May be involved in the intracellular trafficking pathways in adipocyte cells. NA Belongs to the MRAP family. NA PE1 21 +NX_Q8TCY9 Up-regulator of cell proliferation 931 104987 6 0 Cytoplasm;Cytosol;Nucleus NA May be involved in cell cycle progression through the regulation of cyclin D1 expression. May participate in the development of hepatocellular carcinoma (HCC) by promoting hepatocellular growth and survival. May play an important role in development of gastric cancer. NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. Very large inducible GTPase (VLIG) family. NA PE1 7 +NX_Q8TCZ2 CD99 antigen-like protein 2 262 27986 4.92 1 Golgi apparatus;Cell junction;Cell membrane NA Plays a role in a late step of leukocyte extravasation helping cells to overcome the endothelial basement membrane. Acts at the same site as, but independently of, PECAM1 (By similarity). Homophilic adhesion molecule, but these interactions may not be required for cell aggregation (By similarity). O-glycosylated. Belongs to the CD99 family. Cell surface interactions at the vascular wall PE1 X +NX_Q8TCZ7 Putative uncharacterized protein encoded by LINC00308 52 5991 8.8 0 NA NA NA NA NA NA PE5 21 +NX_Q8TD06 Anterior gradient protein 3 166 19171 7.76 0 Endoplasmic reticulum;Cytoplasmic vesicle NA Required for calcium-mediated regulation of ciliary beat frequency and mucociliary clearance in the airway. Might be involved in the regulation of intracellular calcium in tracheal epithelial cells. NA Belongs to the AGR family. NA PE1 7 +NX_Q8TD07 Retinoic acid early transcript 1E 263 30122 8.45 1 Membrane;Cytosol;Focal adhesion;Secreted NA Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity. NA Belongs to the MHC class I family. Natural killer cell mediated cytotoxicity;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 6 +NX_Q8TD08 Mitogen-activated protein kinase 15 544 59832 9.17 0 Cytoplasm;Golgi apparatus;Centriole;Cell junction;Cilium basal body;Nucleoplasm;Tight junction;Autophagosome;Cytosol;Spindle;Nucleus NA Atypical MAPK protein that regulates several process such as autophagy, ciliogenesis, protein trafficking/secretion and genome integrity, in a kinase activity-dependent manner (PubMed:22948227, PubMed:24618899, PubMed:29021280, PubMed:21847093, PubMed:20733054). Controls both, basal and starvation-induced autophagy throught its interaction with GABARAP, MAP1LC3B and GABARAPL1 leading to autophagosome formation, SQSTM1 degradation and reduced MAP1LC3B inhibitory phosphorylation (PubMed:22948227). Regulates primary cilium formation and the localization of ciliary proteins involved in cilium structure, transport, and signaling (PubMed:29021280). Prevents the relocation of the sugar-adding enzymes from the Golgi to the endoplasmic reticulum, thereby restricting the production of sugar-coated proteins (PubMed:24618899). Upon amino-acid starvation, mediates transitional endoplasmic reticulum site disassembly and inhibition of secretion (PubMed:21847093). Binds to chromatin leading to MAPK15 activation and interaction with PCNA, that which protects genomic integrity by inhibiting MDM2-mediated degradation of PCNA (PubMed:20733054). Regulates DA transporter (DAT) activity and protein expression via activation of RhoA (PubMed:28842414). In response to H(2)O(2) treatment phosphorylates ELAVL1, thus preventing it from binding to the PDCD4 3'UTR and rendering the PDCD4 mRNA accessible to miR-21 and leading to its degradation and loss of protein expression (PubMed:26595526). Also functions in a kinase activity-independent manner as a negative regulator of growth (By similarity). Phosphorylates in vitro FOS and MBP (PubMed:11875070, PubMed:16484222, PubMed:20638370, PubMed:19166846). During oocyte maturation, plays a key role in the microtubule organization and meiotic cell cycle progression in oocytes, fertilized eggs, and early embryos (By similarity). Interacts with ESRRA promoting its re-localization from the nucleus to the cytoplasm and then prevents its transcriptional activity (PubMed:21190936). Ubiquitinated (PubMed:19166846). Ubiquitination may allow its tight kinase activity regulation and rapid turnover. May be ubiquitinated by a SCF E3 ligase (By similarity).;Autophosphorylated on Thr-175 and Tyr-177; activates the enzyme. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. NA PE1 8 +NX_Q8TD10 Mirror-image polydactyly gene 1 protein 442 51537 5.55 0 Cytosol NA NA NA NA NA PE1 14 +NX_Q8TD16 Protein bicaudal D homolog 2 824 93533 5.35 0 Golgi apparatus;Cytoplasm;Nuclear pore complex;Cell membrane;Nucleus envelope;Cytosol;Cytoskeleton Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant;Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates and stabilizes the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track) (By similarity). Facilitates the binding of RAB6A to the Golgi by stabilizing its GTP-bound form. Regulates coat complex coatomer protein I (COPI)-independent Golgi-endoplasmic reticulum transport via its interaction with RAB6A and recruitment of the dynein-dynactin motor complex (PubMed:25962623). Contributes to nuclear and centrosomal positioning prior to mitotic entry through regulation of both dynein and kinesin-1. During G2 phase of the cell cycle, associates with RANBP2 at the nuclear pores and recruits dynein and dynactin to the nuclear envelope to ensure proper positioning of the nucleus relative to centrosomes prior to the onset of mitosis (By similarity). Phosphorylated by NEK9 in vitro. Belongs to the BicD family. COPI-independent Golgi-to-ER retrograde traffic PE1 9 +NX_Q8TD17 Zinc finger protein 398 642 71311 6.2 0 Nucleoplasm;Mitochondrion;Nucleus NA Function as a transcriptional activator. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_Q8TD19 Serine/threonine-protein kinase Nek9 979 107168 5.51 0 Cytoplasm;Mitochondrion;Nucleus Arthrogryposis, Perthes disease, and upward gaze palsy;Nevus comedonicus;Lethal congenital contracture syndrome 10 Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation. Phosphorylates different histones, myelin basic protein, beta-casein, and BICD2. Phosphorylates histone H3 on serine and threonine residues and beta-casein on serine residues. Important for G1/S transition and S phase progression. Phosphorylates NEK6 and NEK7 and stimulates their activity by releasing the autoinhibitory functions of Tyr-108 and Tyr-97 respectively. Autophosphorylated on serine and threonine residues (PubMed:27153399). When complexed with FACT, exhibits markedly elevated phosphorylation on Thr-210. During mitosis, not phosphorylated on Thr-210. Phosphorylated by CDK1 in vitro.;NEK9 is phosphorylated by NEK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. Nuclear Pore Complex (NPC) Disassembly;Activation of NIMA Kinases NEK9, NEK6, NEK7 PE1 14 +NX_Q8TD20 Solute carrier family 2, facilitated glucose transporter member 12 617 66966 8.66 12 Endomembrane system;Cell junction;Perinuclear region;Cell membrane NA Insulin-independent facilitative glucose transporter. NA Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. Cellular hexose transport PE1 6 +NX_Q8TD22 Sideroflexin-5 340 37124 9.4 4 Mitochondrion membrane;Nucleoplasm;Mitochondrion NA Mitochondrial amino-acid transporter (By similarity). Does not act as a serine transporter: not able to mediate transport of serine into mitochondria (PubMed:30442778). Transports citrate (By similarity). NA Belongs to the sideroflexin family. NA PE1 2 +NX_Q8TD23 Zinc finger protein 675 568 66299 9.11 0 Nucleus NA May be involved in transcriptional regulation. May play a role during osteoclast differentiation by modulating TRAF6 signaling activity. NA NA Generic Transcription Pathway PE1 19 +NX_Q8TD26 Chromodomain-helicase-DNA-binding protein 6 2715 305412 5.9 0 Nucleoplasm NA DNA-dependent ATPase that plays a role in chromatin remodeling. Regulates transcription by disrupting nucleosomes in a largely non-sliding manner which strongly increases the accessibility of chromatin (PubMed:28533432). Activates transcription of specific genes in response to oxidative stress through interaction with NFE2L2.;(Microbial infection) Acts as a transcriptional repressor of different viruses including influenza virus or papillomavirus. During influenza virus infection, the viral polymerase complex localizes CHD6 to inactive chromatin where it gets degraded in a proteasome independent-manner. NA Belongs to the SNF2/RAD54 helicase family. NA PE1 20 +NX_Q8TD30 Alanine aminotransferase 2 523 57904 7.85 0 Mitochondrion Mental retardation, autosomal recessive 49 Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. NA Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine aminotransferase subfamily. Amino-acid degradation; L-alanine degradation via transaminase pathway; pyruvate from L-alanine: step 1/1.;Alanine, aspartate and glutamate metabolism;Metabolic pathways;Alanine metabolism PE1 16 +NX_Q8TD31 Coiled-coil alpha-helical rod protein 1 782 88671 5.76 0 Cytoplasm;Cytosol;Nucleus NA May be a regulator of keratinocyte proliferation or differentiation. NA NA NA PE1 6 +NX_Q8TD33 Secretoglobin family 1C member 1 95 10414 4.55 0 Secreted NA NA NA Belongs to the secretoglobin family. NA PE2 11 +NX_Q8TD35 Protein LKAAEAR1 194 21508 10.61 0 Nucleoplasm NA NA NA NA NA PE1 20 +NX_Q8TD43 Transient receptor potential cation channel subfamily M member 4 1214 134301 8.49 6 Golgi apparatus;Endoplasmic reticulum;Nucleoplasm;Cell membrane Progressive familial heart block 1B Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization (PubMed:12015988, PubMed:29211723). While it is activated by increase in intracellular Ca(2+), it is impermeable to it (PubMed:12015988). Mediates transport of monovalent cations (Na(+) > K(+) > Cs(+) > Li(+)), leading to depolarize the membrane. It thereby plays a central role in cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells, kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating Ca(2+) oscillations after T lymphocyte activation, which is required for NFAT-dependent IL2 production. Involved in myogenic constriction of cerebral arteries. Controls insulin secretion in pancreatic beta-cells. May also be involved in pacemaking or could cause irregular electrical activity under conditions of Ca(2+) overload. Affects T-helper 1 (Th1) and T-helper 2 (Th2) cell motility and cytokine production through differential regulation of calcium signaling and NFATC1 localization. Enhances cell proliferation through up-regulation of the beta-catenin signaling pathway. Sumoylated. Desumoylated by SENP1.;Phosphorylation by PKC leads to increase the sensitivity to Ca(2+). Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM4 sub-subfamily. TRP channels PE1 19 +NX_Q8TD46 Cell surface glycoprotein CD200 receptor 1 325 36620 8.19 1 Secreted;Cell membrane NA Inhibitory receptor for the CD200/OX2 cell surface glycoprotein. Limits inflammation by inhibiting the expression of proinflammatory molecules including TNF-alpha, interferons, and inducible nitric oxide synthase (iNOS) in response to selected stimuli. Also binds to HHV-8 K14 viral CD200 homolog with identical affinity and kinetics as the host CD200. The mature form of isoform 2 and/or isoform 4 starts at sequence position 27 of the corresponding isoform. Belongs to the CD200R family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 3 +NX_Q8TD47 40S ribosomal protein S4, Y isoform 2 263 29295 10.1 0 NA NA NA NA Belongs to the eukaryotic ribosomal protein eS4 family. Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE2 Y +NX_Q8TD55 Pleckstrin homology domain-containing family O member 2 490 53350 5.34 0 Nucleoplasm;Cytosol;Cell membrane NA NA NA NA Cytokine-cytokine receptor interaction;Neutrophil degranulation PE1 15 +NX_Q8TD57 Dynein heavy chain 3, axonemal 4116 470771 6.04 0 Cilium axoneme;Nucleus membrane;Cytoskeleton NA Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity). NA Belongs to the dynein heavy chain family. Huntington's disease PE1 16 +NX_Q8TD84 Down syndrome cell adhesion molecule-like protein 1 2053 224463 8.43 1 Synapse;Cell membrane NA Cell adhesion molecule that plays a role in neuronal self-avoidance (PubMed:11453658). Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Promotes both isoneuronal self-avoidance for creating an orderly neurite arborization in retinal rod bipolar cells and heteroneuronal self-avoidance to maintain mosaic spacing between AII amacrine cells (By similarity). Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions (By similarity). NA NA DSCAM interactions PE1 11 +NX_Q8TD86 Calmodulin-like protein 6 181 20690 4.47 0 Cytoplasm;Nucleus NA NA NA Belongs to the calmodulin family. Calglandulin subfamily. Calcium signaling pathway;Phosphatidylinositol signaling system;Oocyte meiosis;Vascular smooth muscle contraction;Long-term potentiation;Neurotrophin signaling pathway;Dopaminergic synapse;Olfactory transduction;Phototransduction;Insulin signaling pathway;GnRH signaling pathway;Melanogenesis;Salivary secretion;Gastric acid secretion;Alzheimer's disease;Pertussis;Tuberculosis;Glioma PE2 1 +NX_Q8TD90 Melanoma-associated antigen E2 523 60378 5 0 NA NA NA NA NA NA PE2 X +NX_Q8TD91 Melanoma-associated antigen C3 643 71909 4.77 0 NA NA NA NA NA NA PE1 X +NX_Q8TD94 Krueppel-like factor 14 323 33094 8.26 0 Nucleus NA NA NA Belongs to the Sp1 C2H2-type zinc-finger protein family. NA PE2 7 +NX_Q8TDB4 Protein MGARP 240 25390 4.4 1 Mitochondrion outer membrane;Mitochondrion NA Plays a role in the trafficking of mitochondria along microtubules. Regulates the kinesin-mediated axonal transport of mitochondria to nerve terminals along microtubules during hypoxia. Participates in the translocation of TRAK2/GRIF1 from the cytoplasm to the mitochondrion. Also plays a role in steroidogenesis through maintenance of mitochondrial abundance and morphology (By similarity). NA NA NA PE1 4 +NX_Q8TDB6 E3 ubiquitin-protein ligase DTX3L 740 83554 8.31 0 Cytoplasm;Lysosome membrane;Nucleoplasm;Early endosome membrane;Cytosol;Nucleus NA E3 ubiquitin-protein ligase which, in association with ADP-ribosyltransferase PARP9, plays a role in DNA damage repair and in interferon-mediated antiviral responses (PubMed:12670957, PubMed:19818714, PubMed:26479788, PubMed:23230272). Monoubiquitinates several histones, including histone H2A, H2B, H3 and H4 (PubMed:28525742). In response to DNA damage, mediates monoubiquitination of 'Lys-91' of histone H4 (H4K91ub1) (PubMed:19818714). The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post-translational modifications such as H4 'Lys-20' methylation (H4K20me) (PubMed:19818714). PARP1-dependent PARP9-DTX3L-mediated ubiquitination promotes the rapid and specific recruitment of 53BP1/TP53BP1, UIMC1/RAP80, and BRCA1 to DNA damage sites (PubMed:23230272). By monoubiquitinating histone H2B HIST1H2BH/H2BJ and thereby promoting chromatin remodeling, positively regulates STAT1-dependent interferon-stimulated gene transcription and thus STAT1-mediated control of viral replication (PubMed:26479788). Independently of its catalytic activity, promotes the sorting of chemokine receptor CXCR4 from early endosome to lysosome following CXCL12 stimulation by reducing E3 ligase ITCH activity and thus ITCH-mediated ubiquitination of endosomal sorting complex required for transport ESCRT-0 components HGS and STAM (PubMed:24790097). In addition, required for the recruitment of HGS and STAM to early endosomes (PubMed:24790097). In association with PARP9, plays a role in antiviral responses by mediating 'Lys-48'-linked ubiquitination of encephalomyocarditis virus (EMCV) and human rhinovirus (HRV) C3 proteases and thus promoting their proteosomal-mediated degradation (PubMed:26479788). Autoubiquitinated. Belongs to the Deltex family. Protein modification; protein ubiquitination.;Notch signaling pathway;Antigen processing: Ubiquitination & Proteasome degradation PE1 3 +NX_Q8TDB8 Solute carrier family 2, facilitated glucose transporter member 14 520 56320 8 12 Cell membrane NA Hexose transporter that can mediate the transport of glucose and dehydroascorbate across the cell membrane. NA Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. Cellular hexose transport PE1 12 +NX_Q8TDC0 Myozenin-3 251 27157 9.42 0 Z line NA Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis. NA Belongs to the myozenin family. NA PE1 5 +NX_Q8TDC3 Serine/threonine-protein kinase BRSK1 778 85087 9.39 0 Cytoplasm;Presynaptic active zone;Nucleoplasm;Centrosome;Synapse;Synaptic vesicle;Nucleus NA Serine/threonine-protein kinase that plays a key role in polarization of neurons and centrosome duplication. Phosphorylates CDC25B, CDC25C, MAPT/TAU, RIMS1, TUBG1, TUBG2 and WEE1. Following phosphorylation and activation by STK11/LKB1, acts as a key regulator of polarization of cortical neurons, probably by mediating phosphorylation of microtubule-associated proteins such as MAPT/TAU at 'Thr-529' and 'Ser-579'. Also regulates neuron polarization by mediating phosphorylation of WEE1 at 'Ser-642' in postmitotic neurons, leading to down-regulate WEE1 activity in polarized neurons. In neurons, localizes to synaptic vesicles and plays a role in neurotransmitter release, possibly by phosphorylating RIMS1. Also acts as a positive regulator of centrosome duplication by mediating phosphorylation of gamma-tubulin (TUBG1 and TUBG2) at 'Ser-131', leading to translocation of gamma-tubulin and its associated proteins to the centrosome. Involved in the UV-induced DNA damage checkpoint response, probably by inhibiting CDK1 activity through phosphorylation and activation of WEE1, and inhibition of CDC25B and CDC25C. Phosphorylated at Thr-189 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Not phosphorylated at Thr-189 by CaMKK2. In contrast, it is phosphorylated and activated by CaMKK1. May be inactivated via dephosphorylation of Thr-189 by PP2C.;BRSK1 is phosphorylated by CAMKK2 Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily. NA PE1 19 +NX_Q8TDD1 ATP-dependent RNA helicase DDX54 881 98595 10.03 0 Golgi apparatus;Nucleoplasm;Nucleolus NA Has RNA-dependent ATPase activity. Represses the transcriptional activity of nuclear receptors. NA Belongs to the DEAD box helicase family. DDX54/DBP10 subfamily. NA PE1 12 +NX_Q8TDD2 Transcription factor Sp7 431 44994 8.67 0 Nucleus Osteogenesis imperfecta 12 Transcriptional activator essential for osteoblast differentiation (PubMed:23457570). Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences (By similarity).;Transcriptional activator essential for osteoblast differentiation. Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences. Ubiquitination at leads to proteasomal degradation. SP7 is a short-live protein with an endogenous half-life of approximately 12 hours. Belongs to the Sp1 C2H2-type zinc-finger protein family. RUNX2 regulates osteoblast differentiation PE1 12 +NX_Q8TDD5 Mucolipin-3 553 64248 5.8 6 Autophagosome membrane;Cell membrane;Lysosome membrane;Nucleolus;Early endosome membrane;Cytosol;Late endosome membrane NA Nonselective ligand-gated cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)-permeable cation channel with inwardly rectifying activity (PubMed:18369318, PubMed:19497048, PubMed:19522758, PubMed:19885840, PubMed:29106414). Mediates release of Ca(2+) from endosomes to the cytoplasm, contributes to endosomal acidification and is involved in the regulation of membrane trafficking and fusion in the endosomal pathway (PubMed:21245134). Does not seem to act as mechanosensory transduction channel in inner ear sensory hair cells. Proposed to play a critical role at the cochlear stereocilia ankle-link region during hair-bundle growth (By similarity). Involved in the regulation of autophagy (PubMed:19522758). Through association with GABARAPL2 may be involved in autophagosome formation possibly providing Ca(2+) for the fusion process (By similarity). Through a possible and probably tissue-specific heteromerization with MCOLN1 may be at least in part involved in many lysosome-dependent cellular events (PubMed:19885840). Possible heteromeric ion channel assemblies with TRPV5 show pharmacological similarity with TRPML3 (PubMed:23469151). N-glycosylated. Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN3 sub-subfamily. TRP channels PE1 1 +NX_Q8TDE3 Ribonuclease 8 154 17041 8.69 0 Secreted NA Has a low ribonuclease activity. NA Belongs to the pancreatic ribonuclease family. Antimicrobial peptides PE1 14 +NX_Q8TDF5 Neuropilin and tolloid-like protein 1 533 60191 6.61 1 Golgi apparatus;Secreted;Postsynaptic density;Cell membrane NA Involved in the development and/or maintenance of neuronal circuitry. Accessory subunit of the neuronal N-methyl-D-aspartate receptor (NMDAR) critical for maintaining the abundance of GRIN2A-containing NMDARs in the postsynaptic density. Regulates long-term NMDA receptor-dependent synaptic plasticity and cognition, at least in the context of spatial learning and memory (By similarity). NA NA NA PE1 18 +NX_Q8TDF6 RAS guanyl-releasing protein 4 673 74882 8.34 0 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA Functions as a cation- and diacylglycerol (DAG)-regulated nucleotide exchange factor activating Ras through the exchange of bound GDP for GTP. May function in mast cells differentiation. NA Belongs to the RASGRP family. MAPK signaling pathway;FCERI mediated NF-kB activation;RAF/MAP kinase cascade PE1 19 +NX_Q8TDG2 Actin-related protein T1 376 41696 6.32 0 Cytoplasm;Nucleus;Cytoskeleton NA Negatively regulates the Hedgehog (SHH) signaling. Binds to the promoter of the SHH signaling mediator, GLI1, and inhibits its expression. NA Belongs to the actin family. NA PE2 X +NX_Q8TDG4 Helicase POLQ-like 1101 124131 6.17 0 Nucleoplasm;Nucleus speckle NA Single-stranded DNA-dependent ATPase and 5' to 3' DNA helicase (PubMed:11751861). Involved in the repair of DNA cross-links and double-strand break (DSB) resistance. Participates in FANCD2-mediated repair. Forms a complex with POLN polymerase that participates in homologous recombination (HR) repair and is essential for cellular protection against DNA cross-links (PubMed:19995904). NA Belongs to the helicase family. SKI2 subfamily. NA PE1 4 +NX_Q8TDH9 Biogenesis of lysosome-related organelles complex 1 subunit 5 187 21609 7.14 0 Cytoplasmic vesicle NA Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking. NA Belongs to the BLOC1S5 family. NA PE1 6 +NX_Q8TDI0 Chromodomain-helicase-DNA-binding protein 5 1954 223050 5.82 0 Nucleoplasm;Cytosol;Nucleus speckle;Nucleus NA Chromatin-remodeling protein that binds DNA through histones and regulates gene transcription. May specifically recognize and bind trimethylated 'Lys-27' (H3K27me3) and non-methylated 'Lys-4' of histone H3. Plays a role in the development of the nervous system by activating the expression of genes promoting neuron terminal differentiation. In parallel, it may also positively regulate the trimethylation of histone H3 at 'Lys-27' thereby specifically repressing genes that promote the differentiation into non-neuronal cell lineages. Tumor suppressor, it regulates the expression of genes involved in cell proliferation and differentiation. Downstream activated genes may include CDKN2A that positively regulates the p53/TP53 pathway, which in turn, prevents cell proliferation. In spermatogenesis, it probably regulates histone hyperacetylation and the replacement of histones by transition proteins in chromatin, a crucial step in the condensation of spermatid chromatin and the production of functional spermatozoa. Methylated at Gln-1390 by N6AMT1. Belongs to the SNF2/RAD54 helicase family. NA PE1 1 +NX_Q8TDI7 Transmembrane channel-like protein 2 906 102610 9.5 6 Cell membrane NA Probable ion channel required for the normal function of cochlear hair cells (PubMed:11850618). Component of the hair cell's mechanotransduction (MET) machinery. Involved in mechanosensitive responses of the hair cells (By similarity). NA Belongs to the TMC family. NA PE2 20 +NX_Q8TDI8 Transmembrane channel-like protein 1 760 87768 6.22 6 Cell membrane Deafness, autosomal recessive, 7;Deafness, autosomal dominant, 36 Probable ion channel required for the normal function of cochlear hair cells. NA Belongs to the TMC family. NA PE1 9 +NX_Q8TDJ6 DmX-like protein 2 3036 339641 5.93 0 Synaptic vesicle membrane Polyendocrine-polyneuropathy syndrome;Deafness, autosomal dominant, 71 May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity). NA NA NA PE1 15 +NX_Q8TDL5 BPI fold-containing family B member 1 484 52442 6.72 0 Secreted NA May play a role in innate immunity in mouth, nose and lungs. Binds bacterial lipopolysaccharide (LPS) and modulates the cellular responses to LPS. NA Belongs to the BPI/LBP/Plunc superfamily. Plunc family. Antimicrobial peptides PE1 20 +NX_Q8TDM0 Breast carcinoma-amplified sequence 4 211 22758 5.59 0 Cytoplasm;Cytosol;Cytoskeleton NA NA NA Belongs to the cappuccino family. NA PE1 20 +NX_Q8TDM5 Sperm acrosome membrane-associated protein 4 124 13004 5.49 0 Cell membrane;Acrosome NA Sperm surface membrane protein that may be involved in sperm-egg plasma membrane adhesion and fusion during fertilization. NA Belongs to the SPACA4/bouncer family. Post-translational modification: synthesis of GPI-anchored proteins PE1 19 +NX_Q8TDM6 Disks large homolog 5 1919 213868 7.1 0 Cell junction;Postsynaptic density;Cilium basal body;Cell membrane NA Acts as a regulator of the Hippo signaling pathway (PubMed:28087714, PubMed:28169360). Negatively regulates the Hippo signaling pathway by mediating the interaction of MARK3 with STK3/4, bringing them together to promote MARK3-dependent hyperphosphorylation and inactivation of STK3 kinase activity toward LATS1 (PubMed:28087714). Positively regulates the Hippo signaling pathway by mediating the interaction of SCRIB with STK4/MST1 and LATS1 which is important for the activation of the Hippo signaling pathway. Involved in regulating cell proliferation, maintenance of epithelial polarity, epithelial-mesenchymal transition (EMT), cell migration and invasion (PubMed:28169360). Plays an important role in dendritic spine formation and synaptogenesis in cortical neurons; regulates synaptogenesis by enhancing the cell surface localization of N-cadherin. Acts as a positive regulator of hedgehog (Hh) signaling pathway. Plays a critical role in the early point of the SMO activity cycle by interacting with SMO at the ciliary base to induce the accumulation of KIF7 and GLI2 at the ciliary tip for GLI2 activation (By similarity). NA Belongs to the MAGUK family. NA PE1 10 +NX_Q8TDN1 Potassium voltage-gated channel subfamily G member 4 519 58979 6.23 6 Cell membrane NA Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 (PubMed:19074135). NA Belongs to the potassium channel family. G (TC 1.A.1.2) subfamily. Kv6.4/KCNG4 sub-subfamily. Voltage gated Potassium channels PE1 16 +NX_Q8TDN2 Potassium voltage-gated channel subfamily V member 2 545 62459 6.08 6 Cell membrane Cone dystrophy retinal 3B Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values. NA Belongs to the potassium channel family. V (TC 1.A.1.2) subfamily. Kv8.2/KCNV2 sub-subfamily. Voltage gated Potassium channels PE1 9 +NX_Q8TDN4 CDK5 and ABL1 enzyme substrate 1 633 67599 9.32 0 Nucleoplasm;Cytoplasm;Nucleus NA Cyclin-dependent kinase binding protein. Enhances cyclin-dependent kinase tyrosine phosphorylation by nonreceptor tyrosine kinases, such as that of CDK5 by activated ABL1, which leads to increased CDK5 activity and is critical for neuronal development, and that of CDK2 by WEE1, which leads to decreased CDK2 activity and growth inhibition. Positively affects neuronal outgrowth. Plays a role as a regulator for p53/p73-induced cell death (By similarity). Phosphorylated on Ser-313 by CCNE1/CDK3. Phosphorylated on serine/threonine residues by CDK5 and on tyrosine residues by ABL1. Also phosphorylated in vitro by CCNA1/CDK2, CCNE1/CDK2, CCNA1/CDK3 and CCNE1/CDK3 (By similarity).;CABLES1 is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255);CABLES1 is phosphorylated by CDK3 Belongs to the cyclin family. Factors involved in megakaryocyte development and platelet production;Cyclin E associated events during G1/S transition;Cyclin A:Cdk2-associated events at S phase entry PE1 18 +NX_Q8TDN6 Ribosome biogenesis protein BRX1 homolog 353 41401 9.92 0 Nucleoplasm;Nucleolus;Nucleus NA Required for biogenesis of the 60S ribosomal subunit. NA Belongs to the BRX1 family. NA PE1 5 +NX_Q8TDN7 Alkaline ceramidase 1 264 31095 6.64 7 Endoplasmic reticulum membrane NA Endoplasmic reticulum ceramidase that catalyzes the hydrolysis of ceramides into sphingosine and free fatty acids at alkaline pH (PubMed:17713573, PubMed:20207939, PubMed:20628055). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:12783875). Exhibits a strong substrate specificity towards the natural stereoisomer of ceramides with D-erythro-sphingosine as a backbone and has a higher activity towards very long-chain unsaturated fatty acids like the C24:1-ceramide (PubMed:17713573, PubMed:20207939). May also hydrolyze dihydroceramides to produce dihydrosphingosine (PubMed:20207939, PubMed:20628055). ACER1 is a skin-specific ceramidase that regulates the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes and more generally plays an important role in skin homeostasis (PubMed:17713573). NA Belongs to the alkaline ceramidase family. Lipid metabolism; sphingolipid metabolism.;Sphingolipid metabolism;Metabolic pathways;Sphingolipid de novo biosynthesis PE1 19 +NX_Q8TDP1 Ribonuclease H2 subunit C 164 17840 4.95 0 Nucleoplasm;Nucleus Aicardi-Goutieres syndrome 3 Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes. NA Belongs to the RNase H2 subunit C family. DNA replication PE1 11 +NX_Q8TDQ0 Hepatitis A virus cellular receptor 2 301 33394 5.54 1 Membrane;Cell junction;Cell membrane T-cell lymphoma, subcutaneous panniculitis-like Cell surface receptor implicated in modulating innate and adaptive immune responses. Generally accepted to have an inhibiting function. Reports on stimulating functions suggest that the activity may be influenced by the cellular context and/or the respective ligand (PubMed:24825777). Regulates macrophage activation (PubMed:11823861). Inhibits T-helper type 1 lymphocyte (Th1)-mediated auto- and alloimmune responses and promotes immunological tolerance (PubMed:14556005). In CD8+ cells attenuates TCR-induced signaling, specifically by blocking NF-kappaB and NFAT promoter activities resulting in the loss of IL-2 secretion. The function may implicate its association with LCK proposed to impair phosphorylation of TCR subunits, and/or LGALS9-dependent recruitment of PTPRC to the immunological synapse (PubMed:24337741, PubMed:26492563). In contrast, shown to activate TCR-induced signaling in T-cells probably implicating ZAP70, LCP2, LCK and FYN (By similarity). Expressed on Treg cells can inhibit Th17 cell responses (PubMed:24838857). Receptor for LGALS9 (PubMed:16286920, PubMed:24337741). Binding to LGALS9 is believed to result in suppression of T-cell responses; the resulting apoptosis of antigen-specific cells may implicate HAVCR2 phosphorylation and disruption of its association with BAG6. Binding to LGALS9 is proposed to be involved in innate immune response to intracellular pathogens. Expressed on Th1 cells interacts with LGALS9 expressed on Mycobacterium tuberculosis-infected macrophages to stimulate antibactericidal activity including IL-1 beta secretion and to restrict intracellular bacterial growth (By similarity). However, the function as receptor for LGALS9 has been challenged (PubMed:23555261). Also reported to enhance CD8+ T-cell responses to an acute infection such as by Listeria monocytogenes (By similarity). Receptor for phosphatidylserine (PtSer); PtSer-binding is calcium-dependent. May recognize PtSer on apoptotic cells leading to their phagocytosis. Mediates the engulfment of apoptotic cells by dendritic cells. Expressed on T-cells, promotes conjugation but not engulfment of apoptotic cells. Expressed on dendritic cells (DCs) positively regulates innate immune response and in synergy with Toll-like receptors promotes secretion of TNF-alpha. In tumor-imfiltrating DCs suppresses nucleic acid-mediated innate immune repsonse by interaction with HMGB1 and interfering with nucleic acid-sensing and trafficking of nucleid acids to endosomes (By similarity). Expressed on natural killer (NK) cells acts as a coreceptor to enhance IFN-gamma production in response to LGALS9 (PubMed:22323453). In contrast, shown to suppress NK cell-mediated cytotoxicity (PubMed:22383801). Negatively regulates NK cell function in LPS-induced endotoxic shock (By similarity). O-glycosylated with core 1 or possibly core 8 glycans.;Phosphorylated on tyrosine residues; modestly increased after TCR/CD28 stimulation. Can be phosphorylated in the cytoplasmatic domain by FYN (By similarity). Phosphorylation at Tyr-265 is increased by stimulation with ligand LGALS9. Belongs to the immunoglobulin superfamily. TIM family. Interleukin-2 family signaling PE1 5 +NX_Q8TDQ1 CMRF35-like molecule 1 290 32335 5.45 1 Cell membrane NA Acts as an inhibitory receptor for myeloid cells and mast cells (PubMed:15549731). Positively regulates the phagocytosis of apoptotic cells (efferocytosis) via phosphatidylserine (PS) recognition; recognizes and binds PS as a ligand which is expressed on the surface of apoptotic cells. Plays an important role in the maintenance of immune homeostasis, by promoting macrophage-mediated efferocytosis and by inhibiting dendritic cell-mediated efferocytosis (By similarity). Negatively regulates Fc epsilon receptor-dependent mast cell activation and allergic responses via binding to ceramide and sphingomyelin which act as ligands (PubMed:24035150). May act as a coreceptor for interleukin 4 (IL-4). Associates with and regulates IL-4 receptor alpha-mediated responses by augmenting IL-4- and IL-13-induced signaling (By similarity). Negatively regulates the Toll-like receptor (TLR) signaling mediated by MYD88 and TRIF through activation of PTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:22043923). Inhibits osteoclast formation. Induces macrophage cell death upon engagement (By similarity). Phosphorylated on tyrosine. Belongs to the CD300 family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 17 +NX_Q8TDQ7 Glucosamine-6-phosphate isomerase 2 276 31085 6.45 0 Cytoplasm NA NA NA Belongs to the glucosamine/galactosamine-6-phosphate isomerase family. Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Glycolysis PE1 4 +NX_Q8TDR0 TRAF3-interacting protein 1 691 78632 7.95 0 Cilium axoneme;Cilium;Cilium basal body;Cytoskeleton Senior-Loken syndrome 9 Plays an inhibitory role on IL13 signaling by binding to IL13RA1. Involved in suppression of IL13-induced STAT6 phosphorylation, transcriptional activity and DNA-binding. Recruits TRAF3 and DISC1 to the microtubules. Involved in kidney development and epithelial morphogenesis. Involved in the regulation of microtubule cytoskeleton organization. Is a negative regulator of microtubule stability, acting through the control of MAP4 levels (PubMed:26487268). Involved in ciliogenesis (By similarity). NA Belongs to the TRAF3IP1 family. Intraflagellar transport PE1 2 +NX_Q8TDR2 Serine/threonine-protein kinase 35 534 58051 9.78 0 Nucleoplasm;Nucleolus;Cytoplasm;Nucleus NA NA Autophosphorylated. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. NA PE1 20 +NX_Q8TDR4 T-complex protein 10A homolog 1 215 23863 9.71 0 Nucleus NA May be involved in transcriptional regulation. Has in vitro transcription inhibition activity. Acts as a tumor suppressor in hepatocellular carcinoma (HCC) cells. NA Belongs to the TCP10 family. NA PE1 21 +NX_Q8TDS4 Hydroxycarboxylic acid receptor 2 363 41850 9.34 7 Cell membrane NA Acts as a high affinity receptor for both nicotinic acid (also known as niacin) and (D)-beta-hydroxybutyrate and mediates increased adiponectin secretion and decreased lipolysis through G(i)-protein-mediated inhibition of adenylyl cyclase. This pharmacological effect requires nicotinic acid doses that are much higher than those provided by a normal diet. Mediates nicotinic acid-induced apoptosis in mature neutrophils. Receptor activation by nicotinic acid results in reduced cAMP levels which may affect activity of cAMP-dependent protein kinase A and phosphorylation of target proteins, leading to neutrophil apoptosis. The rank order of potency for the displacement of nicotinic acid binding is 5-methyl pyrazole-3-carboxylic acid = pyridine-3-acetic acid > acifran > 5-methyl nicotinic acid = acipimox >> nicotinuric acid = nicotinamide. NA Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;Hydroxycarboxylic acid-binding receptors;Class A/1 (Rhodopsin-like receptors) PE1 12 +NX_Q8TDS5 Oxoeicosanoid receptor 1 423 45811 9.75 7 Cell membrane NA Receptor for eicosanoids and polyunsaturated fatty acids such as 5-oxo-6E,8Z,11Z,14Z-eicosatetraenoic acid (5-OXO-ETE), 5(S)-hydroperoxy-6E,8Z,11Z,14Z-eicosatetraenoic acid (5(S)-HPETE) and arachidonic acid. Seems to be coupled to the G(i)/G(o), families of heteromeric G proteins. NA Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;Eicosanoid ligand-binding receptors PE1 2 +NX_Q8TDS7 Mas-related G-protein coupled receptor member D 321 36118 9.25 7 Cell membrane NA May regulate nociceptor function and/or development, including the sensation or modulation of pain. Functions as a specific membrane receptor for beta-alanine. Beta-alanine at micromolar doses specifically evoked Ca(2+) influx in cells expressing the receptor. Beta-alanine decreases forskolin-stimulated cAMP production in cells expressing the receptor, suggesting that the receptor couples with G-protein G(q) and G(i). NA Belongs to the G-protein coupled receptor 1 family. Mas subfamily. NA PE2 11 +NX_Q8TDT2 Probable G-protein coupled receptor 152 470 50962 4.59 7 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 11 +NX_Q8TDU5 Putative vomeronasal receptor-like protein 4 208 23857 9.14 5 Cell membrane NA Putative pheromone receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE5 1 +NX_Q8TDU6 G-protein coupled bile acid receptor 1 330 35248 9.62 7 Cell membrane NA Receptor for bile acid. Bile acid-binding induces its internalization, activation of extracellular signal-regulated kinase and intracellular cAMP production. May be involved in the suppression of macrophage functions by bile acids. NA Belongs to the G-protein coupled receptor 1 family. Class A/1 (Rhodopsin-like receptors);G alpha (s) signalling events PE1 2 +NX_Q8TDU9 Relaxin-3 receptor 2 374 41141 10.32 7 Cell membrane NA High affinity receptor for INSL5. Also acts as receptor for RLN3/relaxin-3, as well as bradykinin and kallidin. Binding of the ligand inhibit cAMP accumulation. NA Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;Relaxin receptors PE1 1 +NX_Q8TDV0 G-protein coupled receptor 151 419 46637 6.13 7 Cell membrane NA Proton-sensing G-protein coupled receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 5 +NX_Q8TDV2 Probable G-protein coupled receptor 148 347 38288 8.81 7 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 2 +NX_Q8TDV5 Glucose-dependent insulinotropic receptor 335 36889 9.1 7 Cell membrane NA Receptor for the endogenous fatty-acid ethanolamide oleoylethanolamide (OEA) and lysophosphatidylcholine (LPC). Functions as a glucose-dependent insulinotropic receptor. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Seems to act through a G(s) mediated pathway. NA Belongs to the G-protein coupled receptor 1 family. Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) PE1 X +NX_Q8TDW0 Volume-regulated anion channel subunit LRRC8C 803 92450 7.54 4 Golgi apparatus;Endoplasmic reticulum membrane;Cell membrane NA Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine. Plays a redundant role in the efflux of amino acids, such as aspartate and glutamate, in response to osmotic stress. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition. NA Belongs to the LRRC8 family. Miscellaneous transport and binding events PE1 1 +NX_Q8TDW4 Suppressor of tumorigenicity 7 protein-like 575 64779 7.26 2 Membrane;Centrosome NA NA NA Belongs to the ST7 family. NA PE1 1 +NX_Q8TDW5 Synaptotagmin-like protein 5 730 81523 8.96 0 Membrane;Nucleoplasm;Cytosol;Cytoskeleton NA May act as Rab effector protein and play a role in vesicle trafficking. Binds phospholipids. NA NA NA PE1 X +NX_Q8TDW7 Protocadherin Fat 3 4557 501978 4.72 1 Membrane NA May play a role in the interactions between neurites derived from specific subsets of neurons during development. NA NA NA PE1 11 +NX_Q8TDX5 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase 336 38035 6.52 0 NA NA Converts alpha-amino-beta-carboxymuconate-epsilon-semialdehyde (ACMS) to alpha-aminomuconate semialdehyde (AMS). ACMS can be converted non-enzymatically to quinolate (QA), a key precursor of NAD, and a potent endogenous excitotoxin of neuronal cells which is implicated in the pathogenesis of various neurodegenerative disorders. In the presence of ACMSD, ACMS is converted to AMS, a benign catabolite. ACMSD ultimately controls the metabolic fate of tryptophan catabolism along the kynurenine pathway. NA Belongs to the metallo-dependent hydrolases superfamily. ACMSD family. Secondary metabolite metabolism; quinolate metabolism.;Tryptophan metabolism;Metabolic pathways;Tryptophan catabolism PE1 2 +NX_Q8TDX6 Chondroitin sulfate N-acetylgalactosaminyltransferase 1 532 61294 8.63 1 Golgi stack membrane;Cytoskeleton NA Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage formation and subsequent endochondral ossification (PubMed:11788602, PubMed:12163485, PubMed:12446672, PubMed:17145758). Moreover, is involved in the metabolism of aggrecan (By similarity). N-glycosylated. Belongs to the chondroitin N-acetylgalactosaminyltransferase family. Glycosaminoglycan biosynthesis - chondroitin sulfate;Metabolic pathways;Chondroitin sulfate biosynthesis PE1 8 +NX_Q8TDX7 Serine/threonine-protein kinase Nek7 302 34551 8.49 0 Cytoplasm;Nucleoplasm;Spindle pole;Centrosome;Nucleus NA Protein kinase which plays an important role in mitotic cell cycle progression. Required for microtubule nucleation activity of the centrosome, robust mitotic spindle formation and cytokinesis. Phosphorylates RPS6KB1. Phosphorylation at Ser-195 required for its activation.;NEK7 is phosphorylated by NEK9 Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. Nuclear Pore Complex (NPC) Disassembly;Activation of NIMA Kinases NEK9, NEK6, NEK7 PE1 1 +NX_Q8TDX9 Polycystic kidney disease protein 1-like 1 2849 315435 6.64 11 Cilium membrane Heterotaxy, visceral, 8, autosomal Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD2L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. Does not constitute the pore-forming subunit. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning. NA Belongs to the polycystin family. NA PE1 7 +NX_Q8TDY2 RB1-inducible coiled-coil protein 1 1594 183091 5.3 0 Cytoplasm;Nucleus membrane;Preautophagosomal structure;Lysosome;Cytosol;Nucleus NA Involved in autophagy (PubMed:21775823). Regulates early events but also late events of autophagosome formation through direct interaction with Atg16L1 (PubMed:23392225). Required for the formation of the autophagosome-like double-membrane structure that surrounds the Salmonella-containing vacuole (SCV) during S.typhimurium infection and subsequent xenophagy (By similarity). Involved in repair of DNA damage caused by ionizing radiation, which subsequently improves cell survival by decreasing apoptosis (By similarity). Inhibits PTK2/FAK1 and PTK2B/PYK2 kinase activity, affecting their downstream signaling pathways (PubMed:10769033, PubMed:12221124). Plays a role as a modulator of TGF-beta-signaling by restricting substrate specificity of RNF111 (By similarity). Functions as a DNA-binding transcription factor (PubMed:12095676). Is a potent regulator of the RB1 pathway through induction of RB1 expression (PubMed:14533007). Plays a crucial role in muscular differentiation (PubMed:12163359). Plays an indispensable role in fetal hematopoiesis and in the regulation of neuronal homeostasis (By similarity). RB1CC1 is phosphorylated by ULK2 Belongs to the ATG17 family. Macroautophagy PE1 8 +NX_Q8TDY3 Actin-related protein T2 377 41702 5.28 0 Cytoskeleton NA NA NA Belongs to the actin family. NA PE1 1 +NX_Q8TDY4 Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 903 99155 5.98 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle NA Promotes cell proliferation. NA NA Endocytosis;Fc gamma R-mediated phagocytosis PE1 1 +NX_Q8TDY8 Immunoglobulin superfamily DCC subclass member 4 1250 134210 5.81 1 Nucleoplasm;Cytosol;Cell membrane NA NA NA Belongs to the immunoglobulin superfamily. DCC family. NA PE1 15 +NX_Q8TDZ2 [F-actin]-monooxygenase MICAL1 1067 117875 6 0 Cytoplasm;Midbody;Cytoskeleton NA Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization (By similarity). In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2) (PubMed:21864500, PubMed:26845023). Acts as a cytoskeletal regulator that connects NEDD9 to intermediate filaments. Also acts as a negative regulator of apoptosis via its interaction with STK38 and STK38L; acts by antagonizing STK38 and STK38L activation by MST1/STK4. Involved in regulation of lamina-specific connectivity in the nervous system such as the development of lamina-restricted hippocampal connections. Through redox regulation of the actin cytoskeleton controls the intracellular distribution of secretory vesicles containing L1/neurofascin/NgCAM family proteins in neurons, thereby regulating their cell surface levels (By similarity). May act as Rab effector protein and play a role in vesicle trafficking. NA Belongs to the Mical family. Factors involved in megakaryocyte development and platelet production PE1 6 +NX_Q8TE02 Elongator complex protein 5 316 34841 4.81 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation (PubMed:22854966). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244). Involved in cell migration (By similarity). May be involved in TP53-mediated transcriptional regulation (PubMed:16850183). NA Belongs to the ELP5 family. tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis.;HATs acetylate histones PE1 17 +NX_Q8TE04 Pantothenate kinase 1 598 64339 7.51 0 Cytoplasm NA Plays a role in the physiological regulation of the intracellular CoA concentration. NA Belongs to the type II pantothenate kinase family. Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 1/5.;Pantothenate and CoA biosynthesis;Metabolic pathways;Coenzyme A biosynthesis PE1 10 +NX_Q8TE12 LIM homeobox transcription factor 1-alpha 382 42747 7.03 0 Golgi apparatus;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Acts as a transcriptional activator by binding to an A/T-rich sequence, the FLAT element, in the insulin gene promoter. Required for development of the roof plate and, in turn, for specification of dorsal cell fates in the CNS and developing vertebrae (By similarity). NA NA NA PE1 1 +NX_Q8TE23 Taste receptor type 1 member 2 839 95183 6.08 7 Cell membrane NA Putative taste receptor. TAS1R2/TAS1R3 recognizes diverse natural and synthetic sweeteners. NA Belongs to the G-protein coupled receptor 3 family. TAS1R subfamily. Taste transduction;Carbohydrate digestion and absorption;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE2 1 +NX_Q8TE49 OTU domain-containing protein 7A 926 100677 8.68 0 Nucleolus;Cytoplasm;Cytosol;Nucleus NA Has deubiquitinating activity towards 'Lys-11'-linked polyubiquitin chains. NA Belongs to the peptidase C64 family. Ovarian tumor domain proteases PE1 15 +NX_Q8TE54 Anion exchange transporter 656 72213 8.17 11 Recycling endosome membrane NA Acts as a sodium-independent DIDS-sensitive anion exchanger mediating bicarbonate, chloride, sulfate and oxalate transport. May play a role in the maintenance of the electrolyte and acid-base homeostasis in the kidney, by acting as a distal excretory segment-specific anion exchanger. Plays a major role in gastric acid secretion. NA Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. Gastric acid secretion;Multifunctional anion exchangers PE1 8 +NX_Q8TE56 A disintegrin and metalloproteinase with thrombospondin motifs 17 1095 121127 8.47 0 Nucleoplasm;Extracellular matrix Weill-Marchesani syndrome 4 NA The precursor is cleaved by a furin endopeptidase.;Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity). NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 15 +NX_Q8TE57 A disintegrin and metalloproteinase with thrombospondin motifs 16 1224 136203 8.99 0 Extracellular matrix;Mitochondrion;Nucleus membrane;Nucleoplasm;Midbody ring NA NA The precursor is cleaved by a furin endopeptidase.;Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity). NA Degradation of the extracellular matrix;O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 5 +NX_Q8TE58 A disintegrin and metalloproteinase with thrombospondin motifs 15 950 103287 8.94 0 Cytosol;Extracellular matrix NA NA Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).;The precursor is cleaved by a furin endopeptidase. NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 11 +NX_Q8TE59 A disintegrin and metalloproteinase with thrombospondin motifs 19 1207 134048 7.8 0 Cytoplasmic vesicle;Extracellular matrix;Midbody NA NA The precursor is cleaved by a furin endopeptidase.;Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity). NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 5 +NX_Q8TE60 A disintegrin and metalloproteinase with thrombospondin motifs 18 1221 135167 8.91 0 Spindle;Extracellular matrix;Midbody Microcornea, myopic chorioretinal atrophy, and telecanthus NA Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).;The precursor is cleaved by a furin endopeptidase. NA Degradation of the extracellular matrix;O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 16 +NX_Q8TE67 Epidermal growth factor receptor kinase substrate 8-like protein 3 593 66861 8.09 0 Cytoplasm;Cytoplasmic vesicle NA NA NA Belongs to the EPS8 family. NA PE1 1 +NX_Q8TE68 Epidermal growth factor receptor kinase substrate 8-like protein 1 723 80251 5.76 0 Cytoplasm;Cytosol NA Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. NA Belongs to the EPS8 family. NA PE1 19 +NX_Q8TE69 Protein CXorf40A 158 17891 6.43 0 NA NA May have an important role of cell protection in inflammation reaction. NA NA NA PE1 X +NX_Q8TE73 Dynein heavy chain 5, axonemal 4624 529021 5.79 0 Cilium axoneme Ciliary dyskinesia, primary, 3 Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles. NA Belongs to the dynein heavy chain family. NA PE1 5 +NX_Q8TE76 MORC family CW-type zinc finger protein 4 937 106348 7.22 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 X +NX_Q8TE77 Protein phosphatase Slingshot homolog 3 659 72996 5.19 0 Nucleus speckle;Cell membrane;Cytosol;Nucleus;Cytoskeleton NA Protein phosphatase which may play a role in the regulation of actin filament dynamics. Can dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly (By similarity). NA Belongs to the protein-tyrosine phosphatase family. Regulation of actin cytoskeleton PE1 11 +NX_Q8TE82 SH3 domain and tetratricopeptide repeat-containing protein 1 1336 146961 5.85 0 Nucleoplasm;Cytosol;Nucleolus NA NA NA NA NA PE1 4 +NX_Q8TE85 Grainyhead-like protein 3 homolog 626 70345 6.4 0 Nucleoplasm;Nucleus Van der Woude syndrome 2 Transcription factor playing important roles in primary neurulation and in the differentiation of stratified epithelia of both ectodermal and endodermal origin (By similarity). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (PubMed:21081122, PubMed:25347468). Xhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair (By similarity). Exhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair but is essential to form the epidermal barrier with TGM3 as critical direct target gene among others. Despite being dispensable during normal epidermal homeostasis in the adulthood, is again required for barrier repair after immune-mediated epidermal damage, regulates distinct gene batteries in embryonic epidermal differentiation and adult epidermal barrier reformation after injury. Plays unique and cooperative roles with GRHL2 in establishing distinct zones of primary neurulation. Essential for spinal closure, functions cooperatively with GRHL2 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity). Also required for proper development of the oral periderm (PubMed:24360809). No genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity (PubMed:21081122). NA Belongs to the grh/CP2 family. Grainyhead subfamily. NA PE1 1 +NX_Q8TE96 ATP-dependent RNA helicase DQX1 717 79476 4.93 0 Cytosol;Nucleus;Cell membrane NA NA NA NA NA PE1 2 +NX_Q8TE99 2-phosphoxylose phosphatase 1 480 55240 9.17 1 Golgi apparatus membrane NA Responsible for the 2-O-dephosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature glycosaminoglycan (GAG) chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG-protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-O-dephosphorylation during completion of linkage region formation is a prerequisite for the initiation and efficient elongation of the repeating disaccharide region of GAG chains. NA Belongs to the histidine acid phosphatase family. NA PE1 3 +NX_Q8TEA1 Putative methyltransferase NSUN6 469 51770 8.18 0 Golgi apparatus NA May have S-adenosyl-L-methionine-dependent methyl-transferase activity. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. tRNA modification in the nucleus and cytosol PE1 10 +NX_Q8TEA7 TBC domain-containing protein kinase-like protein 893 100679 6.12 0 Cytoplasm;Nucleolus;Nucleoplasm;Spindle;Midbody Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 Involved in the modulation of mTOR signaling and expression of mTOR complex components (PubMed:27040691, PubMed:23977024). Involved in the regulation of cell proliferation and growth (PubMed:23977024, PubMed:24576458). Involved in the control of actin-cytoskeleton organization (PubMed:23977024). NA Belongs to the protein kinase superfamily. NA PE1 4 +NX_Q8TEA8 D-aminoacyl-tRNA deacylase 1 209 23424 8.35 0 Nucleolus;Cytosol;Cytoplasm;Nucleus NA Possible ATPase (PubMed:15653697) involved in DNA replication, may facilitate loading of CDC45 onto pre-replication complexes (PubMed:20065034).;An aminoacyl-tRNA editing enzyme that deacylates mischarged D-aminoacyl-tRNAs. Also deacylates mischarged glycyl-tRNA(Ala), protecting cells against glycine mischarging by AlaRS. Acts via tRNA-based rather than protein-based catalysis; rejects L-amino acids rather than detecting D-amino acids in the active site. By recycling D-aminoacyl-tRNA to D-amino acids and free tRNA molecules, this enzyme counteracts the toxicity associated with the formation of D-aminoacyl-tRNA entities in vivo and helps enforce protein L-homochirality. Preferentially phosphorylated in cells arrested early in S phase (PubMed:15653697). Phosphorylation in the C-terminus weakens the interaction with CDC45 (PubMed:20065034). Belongs to the DTD family. NA PE1 20 +NX_Q8TEB1 DDB1- and CUL4-associated factor 11 546 61670 5.97 0 Nucleoplasm NA May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. NA NA Protein modification; protein ubiquitination.;Neddylation PE1 14 +NX_Q8TEB7 E3 ubiquitin-protein ligase RNF128 428 46521 5.92 1 Endomembrane system;Perinuclear region;Cytoskeleton NA E3 ubiquitin-protein ligase that catalyzes 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains formation. Functions as an inhibitor of cytokine gene transcription. Inhibits IL2 and IL4 transcription, thereby playing an important role in the induction of the anergic phenotype, a long-term stable state of T-lymphocyte unresponsiveness to antigenic stimulation associated with the blockade of interleukin production. Ubiquitinates ARPC5 with 'Lys-48' linkages and COR1A with 'Lys-63' linkages leading to their degradation, down-regulation of these cytosleletal components results in impaired lamellipodium formation and reduced accumulation of F-actin at the immunological synapse. Functions in the patterning of the dorsal ectoderm; sensitizes ectoderm to respond to neural-inducing signals. Auto-ubiquitinated. Controls the development of T-cell clonal anergy by ubiquitination. NA Protein modification; protein ubiquitination.;Ub-specific processing proteases;Ovarian tumor domain proteases PE1 X +NX_Q8TEB9 Rhomboid-related protein 4 315 35823 8.47 4 Mitochondrion membrane;Endoplasmic reticulum;Endoplasmic reticulum membrane NA Intramembrane-cleaving serine protease that cleaves single transmembrane or multi-pass membrane proteins in the hydrophobic plane of the membrane, luminal loops and juxtamembrane regions. Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded membrane proteins. Required for the degradation process of some specific misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Functions in BIK, MPZ, PKD1, PTCRA, RHO, STEAP3 and TRAC processing. Involved in the regulation of exosomal secretion; inhibits the TSAP6-mediated secretion pathway. Involved in the regulation of apoptosis; modulates BIK-mediated apoptotic activity. Also plays a role in the regulation of spermatogenesis; inhibits apoptotic activity in spermatogonia. NA Belongs to the peptidase S54 family. NA PE1 2 +NX_Q8TEC5 E3 ubiquitin-protein ligase SH3RF2 729 79320 9.96 0 Nucleoplasm;Nucleus NA Has E3 ubiquitin-protein ligase activity (PubMed:24130170). Acts as an anti-apoptotic regulator of the JNK pathway by ubiquitinating and promoting the degradation of SH3RF1, a scaffold protein that is required for pro-apoptotic JNK activation (PubMed:22128169). Facilitates TNF-alpha-mediated recruitment of adapter proteins TRADD and RIPK1 to TNFRSF1A and regulates PAK4 protein stability via inhibition of its ubiquitin-mediated proteasomal degradation (PubMed:24130170). Inhibits PPP1CA phosphatase activity (PubMed:19945436, PubMed:19389623). Autoubiquitinated. Belongs to the SH3RF family. Protein modification; protein ubiquitination. PE1 5 +NX_Q8TED0 U3 small nucleolar RNA-associated protein 15 homolog 518 58415 9.18 0 Endoplasmic reticulum;Nucleolus NA Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I. NA NA Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 5 +NX_Q8TED1 Probable glutathione peroxidase 8 209 23881 9.41 1 Membrane;Cytosol;Cytoskeleton NA NA NA Belongs to the glutathione peroxidase family. Detoxification of Reactive Oxygen Species PE1 5 +NX_Q8TED4 Glucose-6-phosphate exchanger SLC37A2 501 54436 6.36 12 Endoplasmic reticulum membrane NA Inorganic phosphate and glucose-6-phosphate antiporter. May transport cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocate inorganic phosphate into the opposite direction. Independent of a lumenal glucose-6-phosphatase. May not play a role in homeostatic regulation of blood glucose levels. NA Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family. Gluconeogenesis PE1 11 +NX_Q8TED9 Actin filament-associated protein 1-like 1 768 86432 6.38 0 Cytoplasm;Stress fiber;Podosome;Invadopodium NA May be involved in podosome and invadosome formation. NA NA NA PE1 5 +NX_Q8TEE9 Histone deacetylase complex subunit SAP25 199 20873 7.64 0 Cytoplasm;Nucleus NA Involved in the transcriptional repression mediated by the mSIN3A but not the N-CoR corepressor complex. NA NA NA PE1 7 +NX_Q8TEF2 Uncharacterized protein C10orf105 133 14519 8.75 1 Membrane NA NA NA NA NA PE1 10 +NX_Q8TEH3 DENN domain-containing protein 1A 1009 110577 6.51 0 Presynaptic cell membrane;Nucleoplasm;Clathrin-coated vesicle membrane;Cytoplasmic vesicle;Cytosol NA Guanine nucleotide exchange factor (GEF) regulating clathrin-mediated endocytosis through RAB35 activation. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form. Regulates clathrin-mediated endocytosis of synaptic vesicles and mediates exit from early endosomes (PubMed:20154091, PubMed:20937701). Binds phosphatidylinositol-phosphates (PtdInsPs), with some preference for PtdIns(3)P (By similarity). Phosphorylated on serine and/or threonine in an Akt-dependent manner. Phosphorylation probably regulates the guanine nucleotide exchange factor (GEF) activity, possibly by disrupting an intramolecular interaction between the DENN domain and the C-terminus of the protein, thereby relieving the autoinhibition. NA RAB GEFs exchange GTP for GDP on RABs PE1 9 +NX_Q8TEJ3 E3 ubiquitin-protein ligase SH3RF3 882 92776 9.09 0 Nucleoplasm;Cytosol;Centrosome NA Has E3 ubiquitin-protein ligase activity. Autoubiquitinated. Belongs to the SH3RF family. Protein modification; protein ubiquitination. PE1 2 +NX_Q8TEK3 Histone-lysine N-methyltransferase, H3 lysine-79 specific 1537 164856 9.26 0 Nucleoplasm;Nucleus NA Histone methyltransferase. Methylates 'Lys-79' of histone H3. Nucleosomes are preferred as substrate compared to free histones (PubMed:12123582). Binds to DNA (PubMed:12628190). NA Belongs to the class I-like SAM-binding methyltransferase superfamily. DOT1 family. Lysine degradation;PKMTs methylate histone lysines PE1 19 +NX_Q8TEL6 Short transient receptor potential channel 4-associated protein 797 90852 7.54 0 Cytosol NA Substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex required for cell cycle control. The DCX(TRUSS) complex specifically mediates the polyubiquitination and subsequent degradation of MYC. Also participates in the activation of NFKB1 in response to ligation of TNFRSF1A, possibly by linking TNFRSF1A to the IKK signalosome. Involved in JNK activation via its interaction with TRAF2. Also involved in elevation of endoplasmic reticulum Ca(2+) storage reduction in response to CHRM1. NA NA Protein modification; protein ubiquitination.;TRP channels PE1 20 +NX_Q8TEM1 Nuclear pore membrane glycoprotein 210 1887 205111 6.33 1 Endoplasmic reticulum membrane;Nucleus membrane;Nuclear pore complex NA Nucleoporin essential for nuclear pore assembly and fusion, nuclear pore spacing, as well as structural integrity. Phosphorylated at Ser-1881 in mitosis specifically; not phosphorylated in interphase.;N-glycosylated, but not all potential glycosylation sites may be used. Contains high-mannose type oligosaccharides (By similarity). Belongs to the NUP210 family. RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 3 +NX_Q8TEP8 Centrosomal protein of 192 kDa 2537 279111 5.31 0 Cytosol;Centrosome;Centriole NA Required for mitotic centrosome maturation and bipolar spindle assembly (PubMed:25042804, PubMed:17980596, PubMed:18207742). Appears to be a major regulator of pericentriolar material (PCM) recruitment, centrosome maturation, and centriole duplication (PubMed:25042804, PubMed:17980596, PubMed:18207742). Centrosome-specific activating scaffold for AURKA and PLK1 (PubMed:25042804). Hydroxylation by PHD1/EGLN2 at Pro-2313 promotes ubiquitination.;Ubiquitinated by a SCF(SKP2) complex following proline hydroxylation. NA Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 18 +NX_Q8TEQ0 Sorting nexin-29 813 91254 5.86 0 NA NA NA NA Belongs to the sorting nexin family. NA PE1 16 +NX_Q8TEQ6 Gem-associated protein 5 1508 168589 6.17 0 Cytoplasm;Gem;Nucleoplasm;Cytosol;Nucleus NA Required for the assembly of the SMN complex that plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:16857593, PubMed:18984161, PubMed:20513430). Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP (PubMed:18984161). Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus (PubMed:18984161). GEMIN5 acts as the snRNA-binding protein of the SMN complex (PubMed:11714716, PubMed:16857593, PubMed:19377484, PubMed:19750007, PubMed:20513430, PubMed:27834343, PubMed:27881600, PubMed:27881601). Binds to the 7-methylguanosine cap of RNA molecules (PubMed:19750007, PubMed:27834343, PubMed:27881600, PubMed:27881601, Ref.25). Binds to the 3'-UTR of SMN1 mRNA and regulates its translation; does not affect mRNA stability (PubMed:25911097). May play a role in the regulation of protein synthesis via its interaction with ribosomes (PubMed:27507887). NA Belongs to the WD repeat gemin-5 family. RNA transport;snRNP Assembly PE1 5 +NX_Q8TEQ8 GPI ethanolamine phosphate transferase 3 1089 118699 8.38 14 Nucleoplasm;Endoplasmic reticulum membrane;Nucleolus Hyperphosphatasia with mental retardation syndrome 2 Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond. NA Belongs to the PIGG/PIGN/PIGO family. PIGO subfamily. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Synthesis of glycosylphosphatidylinositol (GPI) PE1 9 +NX_Q8TER0 Sushi, nidogen and EGF-like domain-containing protein 1 1413 152204 6.59 0 Secreted NA NA NA NA NA PE1 2 +NX_Q8TER5 Rho guanine nucleotide exchange factor 40 1519 164658 5.8 0 Nucleoplasm;Cytosol;Cytoplasm NA May act as a guanine nucleotide exchange factor (GEF). NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 14 +NX_Q8TES7 Fas-binding factor 1 1133 125446 6.62 0 Spindle pole;Cell junction;Centrosome;Centriole NA Keratin-binding protein required for epithelial cell polarization. Involved in apical junction complex (AJC) assembly via its interaction with PARD3. Required for ciliogenesis. NA NA Anchoring of the basal body to the plasma membrane PE1 17 +NX_Q8TET4 Neutral alpha-glucosidase C 914 104334 5.82 0 Nucleoplasm;Cytoskeleton NA Has alpha-glucosidase activity. NA Belongs to the glycosyl hydrolase 31 family. Galactose metabolism;Starch and sucrose metabolism;Metabolic pathways PE1 15 +NX_Q8TEU7 Rap guanine nucleotide exchange factor 6 1601 179423 5.98 0 Cytoplasm;Cytosol;Centrosome;Cell membrane NA Guanine nucleotide exchange factor (GEF) for Rap1A, Rap2A and M-Ras GTPases. Does not interact with cAMP. NA NA NA PE1 5 +NX_Q8TEU8 WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 576 63941 5.85 0 Secreted NA Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease- and metalloprotease-inhibitor activity. Inhibits the biological activity of mature myostatin, but not activin (By similarity). NA Belongs to the WFIKKN family. NA PE1 17 +NX_Q8TEV8 Smith-Magenis syndrome chromosomal region candidate gene 5 protein 140 15285 10.67 0 NA NA NA NA NA NA PE2 17 +NX_Q8TEV9 Guanine nucleotide exchange protein SMCR8 937 105022 5.36 0 Cytoplasm;Nucleoplasm;Nucleus NA Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:20562859, PubMed:27193190, PubMed:27103069, PubMed:27559131, PubMed:27617292, PubMed:28195531). In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:20562859, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity (PubMed:27617292, PubMed:28195531). Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates (PubMed:27559131, PubMed:28195531). In addition to its activity in the cytoplasm within the C9orf72-SMCR8 complex, SMCR8 also localizes in the nucleus, where it associates with chromatin and negatively regulates expression of suppresses ULK1 and WIPI2 genes (PubMed:28195531). Phosphorylation by TBK1 is required to promote autophagosome maturation (PubMed:27103069). Phosphorylated by ULK1 (PubMed:27103069). Belongs to the SMCR8 family. NA PE1 17 +NX_Q8TEW0 Partitioning defective 3 homolog 1356 151423 7.41 0 Cytoplasm;Cell cortex;Cell membrane;Endomembrane system;Adherens junction;Cell junction;Tight junction;Cytosol;Cytoskeleton Neural tube defects Adapter protein involved in asymmetrical cell division and cell polarization processes (PubMed:27925688, PubMed:10954424). Seems to play a central role in the formation of epithelial tight junctions (PubMed:27925688). Targets the phosphatase PTEN to cell junctions (By similarity). Involved in Schwann cell peripheral myelination (By similarity). Association with PARD6B may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly (By similarity). The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (PubMed:10934474). Required for establishment of neuronal polarity and normal axon formation in cultured hippocampal neurons (PubMed:19812038, PubMed:27925688). Acetylated. Deacetylated by SIRT2, thereby inhibiting Schwann cell peripheral myelination.;Phosphorylation at Ser-827 by PRKCZ and PRKCI occurs at the most apical tip of epithelial cell-cell contacts during the initial phase of tight junction formation and may promote dissociation of the complex with PARD6. EGF-induced Tyr-1127 phosphorylation mediates dissociation from LIMK2 (By similarity). Phosphorylation by AURKA at Ser-962 is required for the normal establishment of neuronal polarity (PubMed:19812038). Belongs to the PAR3 family. Chemokine signaling pathway;Neuroactive ligand-receptor interaction;Endocytosis;Adherens junction;Tight junction;TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition);Tight junction interactions PE1 10 +NX_Q8TEW6 Docking protein 4 326 37028 8.37 0 Cytoplasmic vesicle;Cytoskeleton NA DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK4 functions in RET-mediated neurite outgrowth and plays a positive role in activation of the MAP kinase pathway (By similarity). Putative link with downstream effectors of RET in neuronal differentiation. May be involved in the regulation of the immune response induced by T-cells. Phosphorylated on tyrosine residues in response to insulin, IGF1 or RET stimulation. Belongs to the DOK family. Type B subfamily. RET signaling PE1 16 +NX_Q8TEW8 Partitioning defective 3 homolog B 1205 132494 8.54 0 Tight junction;Cell junction;Endomembrane system NA Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions. PARD3B is phosphorylated by PRKCZ Belongs to the PAR3 family. NA PE1 2 +NX_Q8TEX9 Importin-4 1081 118715 4.88 0 Cytoplasm;Cytosol;Nucleus NA Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Mediates the nuclear import of RPS3A. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS. NA Belongs to the importin beta family. NA PE1 14 +NX_Q8TEY5 Cyclic AMP-responsive element-binding protein 3-like protein 4 395 43432 5.28 1 Endoplasmic reticulum membrane;Mitochondrion;Nucleus membrane;Nucleoplasm;Golgi apparatus membrane;Nucleus NA Transcriptional activator that may play a role in the unfolded protein response. Binds to the UPR element (UPRE) but not to CRE element. Preferentially binds DNA with to the consensus sequence 5'-T[GT]ACGT[GA][GT]-3' and has transcriptional activation activity from UPRE. Binds to NF-kappa-B site and has transcriptional activation activity from NF-kappa-B-containing regulatory elements (By similarity). N-glycosylated in the C-terminal region.;Controlled by regulated intramembrane proteolysis (RIP). Following ER stress a fragment containing the cytoplasmic transcription factor domain is released by proteolysis. The cleavage seems to be performed sequentially by site-1 and site-2 proteases (PS1 and PS2). PS1 cleavage may be suppressed by a determinant in the C-terminal region (By similarity). Belongs to the bZIP family. ATF subfamily. Cholinergic synapse;Dopaminergic synapse;Melanogenesis;Vasopressin-regulated water reabsorption;Huntington's disease;Prostate cancer;CREB3 factors activate genes PE1 1 +NX_Q8TEY7 Ubiquitin carboxyl-terminal hydrolase 33 942 106727 5.69 0 Golgi apparatus;Nucleoplasm;Centrosome;Perinuclear region NA Deubiquitinating enzyme involved in various processes such as centrosome duplication, cellular migration and beta-2 adrenergic receptor/ADRB2 recycling. Involved in regulation of centrosome duplication by mediating deubiquitination of CCP110 in S and G2/M phase, leading to stabilize CCP110 during the period which centrioles duplicate and elongate. Involved in cell migration via its interaction with intracellular domain of ROBO1, leading to regulate the Slit signaling. Plays a role in commissural axon guidance cross the ventral midline of the neural tube in a Slit-dependent manner, possibly by mediating the deubiquitination of ROBO1. Acts as a regulator of G-protein coupled receptor (GPCR) signaling by mediating the deubiquitination of beta-arrestins (ARRB1 and ARRB2) and beta-2 adrenergic receptor (ADRB2). Plays a central role in ADRB2 recycling and resensitization after prolonged agonist stimulation by constitutively binding ADRB2, mediating deubiquitination of ADRB2 and inhibiting lysosomal trafficking of ADRB2. Upon dissociation, it is probably transferred to the translocated beta-arrestins, leading to beta-arrestins deubiquitination and disengagement from ADRB2. This suggests the existence of a dynamic exchange between the ADRB2 and beta-arrestins. Deubiquitinates DIO2, thereby regulating thyroid hormone regulation. Mediates deubiquitination of both 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Ubiquitinated via a VHL-dependent pathway for proteasomal degradation. Belongs to the peptidase C19 family. USP20/USP33 subfamily. Ub-specific processing proteases;Regulation of expression of SLITs and ROBOs PE1 1 +NX_Q8TEZ7 Membrane progestin receptor beta 354 40464 8.69 7 Golgi apparatus;Cell membrane NA Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432). Seems to act through a G(i) mediated pathway (PubMed:23763432). May be involved in oocyte maturation (By similarity). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23161870). NA Belongs to the ADIPOR family. NA PE1 6 +NX_Q8TF01 Arginine/serine-rich protein PNISR 805 92577 10.02 0 Cytosol;Nucleus speckle;Cell membrane NA NA NA Belongs to the splicing factor SR family. NA PE1 6 +NX_Q8TF05 Serine/threonine-protein phosphatase 4 regulatory subunit 1 950 107004 4.64 0 Nucleoplasm NA Regulatory subunit of serine/threonine-protein phosphatase 4. May play a role in regulation of cell division in renal glomeruli. The PPP4C-PPP4R1 PP4 complex may play a role in dephosphorylation and regulation of HDAC3. NA NA NA PE1 18 +NX_Q8TF08 Cytochrome c oxidase subunit 7B2, mitochondrial 81 9077 9.74 1 Mitochondrion inner membrane NA This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. NA Belongs to the cytochrome c oxidase VIIb family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease PE2 4 +NX_Q8TF09 Dynein light chain roadblock-type 2 96 10855 6.91 0 Cytoskeleton NA Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. NA Belongs to the GAMAD family. Intraflagellar transport PE1 16 +NX_Q8TF17 SH3 domain and tetratricopeptide repeat-containing protein 2 1288 144777 5.95 0 Nucleoplasm;Cytosol Charcot-Marie-Tooth disease 4C;Mononeuropathy of the median nerve mild NA NA NA NA PE1 5 +NX_Q8TF20 Zinc finger protein 721 911 105084 9.55 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 4 +NX_Q8TF21 Ankyrin repeat domain-containing protein 24 1146 124187 4.98 0 Cytosol;Cytoskeleton NA NA NA NA NA PE1 19 +NX_Q8TF27 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 11 550 60549 7.82 0 NA NA Putative GTPase-activating protein. NA Belongs to the centaurin gamma-like family. NA PE2 10 +NX_Q8TF30 WASP homolog-associated protein with actin, membranes and microtubules 809 90924 6.67 0 Cytoplasm;Endoplasmic reticulum-Golgi intermediate compartment;Cytoplasmic vesicle membrane;cis-Golgi network;Cytosol NA Acts as a nucleation-promoting factor (NPF) that stimulates Arp2/3-mediated actin polymerization both at the Golgi apparatus and along tubular membranes. Its activity in membrane tubulation requires F-actin and interaction with microtubules. Proposed to use coordinated actin-nucleating and microtubule-binding activities of distinct WHAMM molecules to drive membrane tubule elongation; when MT-bound can recruit and remodel membrane vesicles but is prevented to activate the Arp2/3 complex. Involved as a regulator of Golgi positioning and morphology. Participates in vesicle transport between the reticulum endoplasmic and the Golgi complex. Required for RhoD-dependent actin reorganization such as in cell adhesion and cell migration. NA NA NA PE1 15 +NX_Q8TF32 Zinc finger protein 431 576 67217 9.03 0 Nucleus NA Sequence-specific DNA binding transcriptional repressor. Represses target gene transcription by recruiting HDAC1 and HDAC2 histone deacetylases. Acts as a specific transcriptional repressor for PTCH1 during embryonic development. Required for osteoblast differentiation and sonic hedgehog/SHH signaling response. Binds to the consensus site 5'-GCGCCC-3' in the promoter of PTCH1 (By similarity). NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8TF39 Zinc finger protein 483 744 85098 8.88 0 Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 9 +NX_Q8TF40 Folliculin-interacting protein 1 1166 130555 5.33 0 Cytoplasm NA Acts as a co-chaperone of HSP90AA1. Inhibits the ATPase activity of HSP90AA1 leading to reduction in its chaperone activity. Facilitates the binding of client protein FLCN to HSP90AA1. Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:27353360). May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways (PubMed:17028174). May regulate phosphorylation of RPS6KB1 (PubMed:18663353). Phosphorylated by AMPK. Belongs to the FNIP family. NA PE1 5 +NX_Q8TF42 Ubiquitin-associated and SH3 domain-containing protein B 649 72696 6.48 0 Cytoplasm;Nucleus;Cell membrane NA Interferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases. Promotes accumulation of activated target receptors, such as T-cell receptors and EGFR, on the cell surface. Exhibits tyrosine phosphatase activity toward several substrates including EGFR, FAK, SYK, and ZAP70. Down-regulates proteins that are dually modified by both protein tyrosine phosphorylation and ubiquitination. NA NA NA PE1 11 +NX_Q8TF44 C2 calcium-dependent domain-containing protein 4C 421 44576 9.75 0 Cytoplasmic vesicle NA NA NA Belongs to the C2CD4 family. NA PE1 19 +NX_Q8TF45 Zinc finger protein 418 676 77858 8.75 0 Nucleus NA Transcriptional repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8TF46 DIS3-like exonuclease 1 1054 120787 6.09 0 Cytoplasm;Cytosol;Centrosome;Cell membrane NA Putative cytoplasm-specific catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. NA Belongs to the RNR ribonuclease family. NA PE1 15 +NX_Q8TF47 Zinc finger protein 90 homolog 636 73031 8.37 0 Cytoplasmic vesicle;Centrosome;Nucleus;Cell membrane NA Inhibits the transcriptional repressor activity of REST by inhibiting its binding to DNA, thereby derepressing transcription of REST target genes.;Acts as a bridge between FOXP3 and the corepressor TRIM28, and is required for the transcriptional repressor activity of FOXP3 in regulatory T-cells (Treg). NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_Q8TF50 Zinc finger protein 526 670 73622 6.01 0 Golgi apparatus;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q8TF61 F-box only protein 41 875 94496 8.6 0 Nucleoplasm;Cytosol;Cell membrane NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 2 +NX_Q8TF62 Probable phospholipid-transporting ATPase IM 1192 135868 6.56 10 Cytoplasmic vesicle;Golgi apparatus;Nucleoplasm;Cell membrane NA Component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. Ion transport by P-type ATPases;Neutrophil degranulation PE1 15 +NX_Q8TF63 Dendritic cell nuclear protein 1 244 26704 9.97 0 Cytoplasm;Nucleus NA Binds with and transactivates the corticotropin-releasing hormone (CRH) promoter. NA NA NA PE1 5 +NX_Q8TF64 PDZ domain-containing protein GIPC3 312 33982 5.5 0 Golgi apparatus;Nucleoplasm;Nucleus Deafness, autosomal recessive, 15 Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion. NA Belongs to the GIPC family. NA PE1 19 +NX_Q8TF65 PDZ domain-containing protein GIPC2 315 34354 6.07 0 Nucleoplasm;Cytosol;Cytoplasm NA NA NA Belongs to the GIPC family. NA PE1 1 +NX_Q8TF66 Leucine-rich repeat-containing protein 15 581 64366 6.24 1 Membrane;Cytoplasmic vesicle;Cell membrane NA NA NA NA NA PE1 3 +NX_Q8TF68 Zinc finger protein 384 577 63219 9.18 0 Nucleoplasm;Nucleus NA Transcription factor that binds the consensus DNA sequence [GC]AAAAA. Seems to bind and regulate the promoters of MMP1, MMP3, MMP7 and COL1A1 (By similarity). NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 12 +NX_Q8TF71 Monocarboxylate transporter 10 515 55493 7.87 12 Cytoplasmic vesicle;Cell junction;Cell membrane;Basolateral cell membrane NA Sodium-independent transporter that mediates the uptake of aromatic acids. Can function as a net efflux pathway for aromatic amino acids in the basosolateral epithelial cells (By similarity). Not N-glycosylated. Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. Protein digestion and absorption;Amino acid transport across the plasma membrane PE1 6 +NX_Q8TF72 Protein Shroom3 1996 216857 7.87 0 Apical cell membrane;Adherens junction;Cytoskeleton NA Controls cell shape changes in the neuroepithelium during neural tube closure. Induces apical constriction in epithelial cells by promoting the apical accumulation of F-actin and myosin II, and probably by bundling stress fibers (By similarity). Induces apicobasal cell elongation by redistributing gamma-tubulin and directing the assembly of robust apicobasal microtubule arrays (By similarity). NA Belongs to the shroom family. NA PE1 4 +NX_Q8TF74 WAS/WASL-interacting protein family member 2 440 46289 10.93 0 Nucleoplasm;Cytoskeleton NA Plays an active role in the formation of cell surface protrusions downstream of activated PDGFB receptors. Plays an important role in actin-microspike formation through cooperation with WASL. May cooperate with WASP and WASL to induce mobilization and reorganization of the actin filament system. NA Belongs to the verprolin family. Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs PE1 17 +NX_Q8TF76 Serine/threonine-protein kinase haspin 798 88495 9.32 0 Nucleoplasm;Spindle;Nucleus;Chromosome NA Serine/threonine-protein kinase that phosphorylates histone H3 at 'Thr-3' (H3T3ph) during mitosis. May act through H3T3ph to both position and modulate activation of AURKB and other components of the chromosomal passenger complex (CPC) at centromeres to ensure proper chromatid cohesion, metaphase alignment and normal progression through the cell cycle. Autophosphorylated on both serine and threonine residues (By similarity). Strongly phosphorylated during mitosis but this does not appear to significantly affect its intrinsic kinase activity. Phosphorylation by AURKB is required for full activity toward histone H3 at 'Ser-3' in mitosis.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Haspin subfamily. NA PE1 17 +NX_Q8WTP8 Apoptosis-enhancing nuclease 325 36350 9.4 0 Nucleoplasm;Nucleolus;Nucleus membrane;Nucleus NA Exonuclease with activity against single- and double-stranded DNA and RNA. Mediates p53-induced apoptosis. When induced by p53 following DNA damage, digests double-stranded DNA to form single-stranded DNA and amplifies DNA damage signals, leading to enhancement of apoptosis. NA NA NA PE1 15 +NX_Q8WTP9 X antigen family member 3 111 12302 4.4 0 NA NA NA NA Belongs to the GAGE family. NA PE1 X +NX_Q8WTQ1 Beta-defensin 104 72 8526 9.41 0 Secreted NA Has antimicrobial activity. Synergistic effects with lysozyme and DEFB103. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE1 8 +NX_Q8WTQ4 Uncharacterized protein C16orf78 265 30819 9.8 0 NA NA NA NA NA NA PE1 16 +NX_Q8WTQ7 Rhodopsin kinase GRK7 553 62212 6.18 0 Membrane NA Retina-specific kinase involved in the shutoff of the photoresponse and adaptation to changing light conditions via cone opsin phosphorylation, including rhodopsin (RHO). Autophosphorylated in vitro at Ser-490. Phosphorylation at Ser-36 is regulated by light and activated by cAMP.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily. Chemokine signaling pathway;Endocytosis;Phototransduction;Inactivation, recovery and regulation of the phototransduction cascade PE1 3 +NX_Q8WTR2 Dual specificity protein phosphatase 19 217 24194 6.11 0 Nucleoplasm NA Has a dual specificity toward Ser/Thr and Tyr-containing proteins. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. NA PE1 2 +NX_Q8WTR4 Glycerophosphodiester phosphodiesterase domain-containing protein 5 605 68586 7.64 6 Golgi apparatus;Endomembrane system;Growth cone;Perinuclear region NA Glycerophosphodiester phosphodiesterase that promotes neurite formation and drives spinal motor neuron differentiation (By similarity). Mediates the cleavage of glycosylphosphatidylinositol (GPI) anchor of target proteins: removes the GPI-anchor of RECK, leading to release RECK from the plasma membrane (By similarity). May contribute to the osmotic regulation of cellular glycerophosphocholine (By similarity). Intramolecular disulfide bond between Cys-25 and Cys-571 is reduced by PRDX1. Belongs to the glycerophosphoryl diester phosphodiesterase family. Glycerophospholipid catabolism PE1 11 +NX_Q8WTR7 Zinc finger protein 473 871 100182 8.63 0 Nucleoplasm;Nucleus NA Involved in histone 3'-end pre-mRNA processing by associating with U7 snRNP and interacting with SLBP/pre-mRNA complex. Increases histone 3'-end pre-mRNA processing but has no effect on U7 snRNP levels, when overexpressed. Required for cell cycle progression from G1 to S phases. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway;SLBP independent Processing of Histone Pre-mRNAs;SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 19 +NX_Q8WTR8 Netrin-5 489 53174 9.63 0 Endoplasmic reticulum;Secreted NA Plays a role in neurogenesis. Prevents motor neuron cell body migration out of the neural tube. NA NA NA PE2 19 +NX_Q8WTS1 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 349 39096 6.17 0 Cytoplasmic vesicle;Cytoplasm;Cytosol;Lipid droplet Chanarin-Dorfman syndrome Coenzyme A-dependent lysophosphatidic acid acyltransferase that catalyzes the transfert of an acyl group on a lysophosphatidic acid (PubMed:18606822). Functions preferentially with 1-oleoyl-lysophosphatidic acid followed by 1-palmitoyl-lysophosphatidic acid, 1-stearoyl-lysophosphatidic acid and 1-arachidonoyl-lysophosphatidic acid as lipid acceptor. Functions preferentially with arachidonoyl-CoA followed by oleoyl-CoA as acyl group donors (By similarity). Functions in phosphatidic acid biosynthesis (PubMed:18606822). May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2 (PubMed:16679289). Involved in keratinocyte differentiation (PubMed:18832586). Regulates lipid droplet fusion (By similarity). NA Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily. Triglyceride catabolism PE1 3 +NX_Q8WTS6 Histone-lysine N-methyltransferase SETD7 366 40721 4.5 0 Nucleolus;Nucleus;Chromosome NA Histone methyltransferase that specifically monomethylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in the transcriptional activation of genes such as collagenase or insulin. Recruited by IPF1/PDX-1 to the insulin promoter, leading to activate transcription. Has also methyltransferase activity toward non-histone proteins such as p53/TP53, TAF10, and possibly TAF7 by recognizing and binding the [KR]-[STA]-K in substrate proteins. Monomethylates 'Lys-189' of TAF10, leading to increase the affinity of TAF10 for RNA polymerase II. Monomethylates 'Lys-372' of p53/TP53, stabilizing p53/TP53 and increasing p53/TP53-mediated transcriptional activation. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET7 subfamily. Lysine degradation;PKMTs methylate histone lysines PE1 4 +NX_Q8WTT0 C-type lectin domain family 4 member C 213 25038 6.59 1 Cell membrane NA Lectin-type cell surface receptor which may play a role in antigen capturing by dendritic cells (PubMed:11748283, PubMed:21880719, PubMed:25995448). Specifically recognizes non-sialylated galactose-terminated biantennary glycans containing the trisaccharide epitope Gal(beta1-3/4)GlcNAc(beta1-2)Man (PubMed:21880719, PubMed:25995448). Binds to serum IgG (PubMed:25995448). Efficiently targets ligand into antigen-processing and peptide-loading compartments for presentation to T-cells (PubMed:11748283). May mediate potent inhibition of induction of IFN-alpha/beta expression in plasmacytoid dendritic cells (PubMed:11748283, PubMed:21880719). May act as a signaling receptor that activates protein-tyrosine kinases and mobilizes intracellular calcium (PubMed:11748283). NA NA Dectin-2 family;Neutrophil degranulation PE1 12 +NX_Q8WTT2 Nucleolar complex protein 3 homolog 800 92548 9.22 0 Nucleoplasm;Nucleus speckle;Nucleolus NA May be required for adipogenesis. NA Belongs to the CBF/MAK21 family. NA PE1 10 +NX_Q8WTU0 Protein DDI1 homolog 1 396 44124 5.51 0 NA NA Probable aspartic protease (Probable). Seems to act as a proteasomal shuttle which links the proteasome and replication fork proteins like RTF2 (Probable). Required, with DDI2, for cellular survival following replication stress. Together or redudantly with DDI2, removes RTF2 from stalled forks to allow cell cycle progression after replication stress and maintains genome integrity (PubMed:29290612). NA Belongs to the DDI1 family. NA PE1 11 +NX_Q8WTU2 Scavenger receptor cysteine-rich domain-containing group B protein 575 60819 5.57 0 Secreted NA NA NA NA NA PE1 7 +NX_Q8WTV0 Scavenger receptor class B member 1 552 60878 8.55 2 Cytoplasmic vesicle;Caveola;Cell membrane NA (Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes and appears to facilitate its cell entry (PubMed:12356718, PubMed:12913001, PubMed:18000990). Binding between SCARB1 and the hepatitis C virus glycoprotein E2 is independent of the genotype of the viral isolate (PubMed:12356718). Mediates uptake of M.fortuitum, E.coli and S.aureus (PubMed:16020694).;Receptor for different ligands such as phospholipids, cholesterol ester, lipoproteins, phosphatidylserine and apoptotic cells (PubMed:12016218, PubMed:12519372, PubMed:21226579). Receptor for HDL, mediating selective uptake of cholesteryl ether and HDL-dependent cholesterol efflux (PubMed:26965621). Also facilitates the flux of free and esterified cholesterol between the cell surface and apoB-containing lipoproteins and modified lipoproteins, although less efficiently than HDL. May be involved in the phagocytosis of apoptotic cells, via its phosphatidylserine binding activity (PubMed:12016218). The six cysteines of the extracellular domain are all involved in intramolecular disulfide bonds.;N-glycosylated. Belongs to the CD36 family. Phagosome;Fat digestion and absorption;Bile secretion;Vitamin digestion and absorption;Hepatitis C;Scavenging by Class B Receptors;HDL clearance PE1 12 +NX_Q8WTV1 THAP domain-containing protein 3 239 27059 10.26 0 Nucleoplasm;Mitochondrion;Nucleolus NA Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. NA NA NA PE1 1 +NX_Q8WTW3 Conserved oligomeric Golgi complex subunit 1 980 108978 6.96 0 Golgi apparatus membrane Congenital disorder of glycosylation 2G Required for normal Golgi function. NA Belongs to the COG1 family. Intra-Golgi traffic;COPI-mediated anterograde transport;Retrograde transport at the Trans-Golgi-Network PE1 17 +NX_Q8WTW4 GATOR complex protein NPRL2 380 43658 6.1 0 Cytosol;Lysosome membrane Epilepsy, familial focal, with variable foci 2 As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.;Suppresses Src-dependent tyrosine phosphorylation and activation of PDPK1 and its downstream signaling. Down-regulates PDPK1 kinase activity by interfering with tyrosine phosphorylation at 'Tyr-9', 'Tyr-373' and 'Tyr-376' residues. May act as a tumor suppressor. Suppresses cell growth and enhances sensitivity to various anticancer drugs. NA Belongs to the NPR2 family. NA PE1 3 +NX_Q8WTX7 Cytosolic arginine sensor for mTORC1 subunit 1 329 36275 5.05 0 Cytosol NA Functions as an intracellular arginine sensor within the amino acid-sensing branch of the TORC1 signaling pathway. As a homodimer or a heterodimer with CASTOR2, binds and inhibits the GATOR subcomplex GATOR2 and thereby mTORC1. Binding of arginine to CASTOR1 allosterically disrupts the interaction of CASTOR1-containing dimers with GATOR2 which can in turn activate mTORC1 and the TORC1 signaling pathway. NA Belongs to the GATS family. NA PE1 22 +NX_Q8WTX9 Probable palmitoyltransferase ZDHHC1 485 54818 10.35 4 Membrane;Cytosol NA NA NA Belongs to the DHHC palmitoyltransferase family. NA PE1 16 +NX_Q8WTZ3 Zinc finger protein ENSP00000375192 238 27158 8.81 0 Nucleus NA NA NA NA NA PE2 19 +NX_Q8WTZ4 Putative inactive carbonic anhydrase 5B-like protein 195 22622 10.76 0 NA NA NA NA Belongs to the alpha-carbonic anhydrase family. NA PE5 X +NX_Q8WU03 Glycine N-acyltransferase-like protein 2 294 34277 6.22 0 Endoplasmic reticulum;Mitochondrion NA Mitochondrial acyltransferase which transfers the acyl group to the N-terminus of glycine. Conjugates numerous substrates, such as arachidonoyl-CoA and saturated medium and long-chain acyl-CoAs ranging from chain-length C8:0-CoA to C18:0-CoA, to form a variety of N-acylglycines. Shows a preference for monounsaturated fatty acid oleoyl-CoA (C18:1-CoA) as an acyl donor. Does not exhibit any activity toward C22:6-CoA and chenodeoxycholoyl-CoA, nor toward serine or alanine. Acetylation at Lys-19 drastically decreases the production of N-oleoyl and N-arachidonoyl glycines. Belongs to the glycine N-acyltransferase family. Conjugation of salicylate with glycine;Conjugation of benzoate with glycine PE1 11 +NX_Q8WU08 Serine/threonine-protein kinase 32A 396 46369 6.87 0 Centrosome;Cell membrane NA NA NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. NA PE1 5 +NX_Q8WU10 Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 500 55793 5.58 0 Cytoplasm;Nucleus speckle;Nucleus;Sarcomere Myopathy, myofibrillar, 8 Probable FAD-dependent oxidoreductase; involved in the cellular oxidative stress response (PubMed:27745833). Required for normal sarcomere structure and muscle fiber integrity (By similarity). NA Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. PYROXD1 subfamily. NA PE1 12 +NX_Q8WU17 E3 ubiquitin-protein ligase RNF139 664 75994 5.99 12 Endoplasmic reticulum membrane Renal cell carcinoma E3-ubiquitin ligase; acts as a negative regulator of the cell proliferation through mechanisms involving G2/M arrest and cell death. Required for MHC class I ubiquitination in cells expressing the cytomegalovirus protein US2 before dislocation from the endoplasmic reticulum (ER). Affects SREBP processing by hindering the SREBP/SCAP complex translocation from the ER to the Golgi, thereby reducing SREBF2 target gene expression. Required for INSIG1 ubiquitination. May be required for EIF3 complex ubiquitination. May function as a signaling receptor. Autoubiquitinated. Ubiquitination is induced by sterol and leads to ist degradation via the ubiquitin-proteasome pathway. NA Protein modification; protein ubiquitination.;ER Quality Control Compartment (ERQC) PE1 8 +NX_Q8WU20 Fibroblast growth factor receptor substrate 2 508 57029 5.65 0 Endomembrane system;Cell junction NA Adapter protein that links activated FGR and NGF receptors to downstream signaling pathways. Plays an important role in the activation of MAP kinases and in the phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, in response to ligand-mediated activation of FGFR1. Modulates signaling via SHC1 by competing for a common binding site on NTRK1. Ubiquitinated when tyrosine phosphorylated and in a complex with GRB2. The unphosphorylated form is not subject to ubiquitination (By similarity).;Phosphorylated by ULK2 in vitro (By similarity). Phosphorylated on tyrosine residues upon stimulation by NGF or FGF2. Phosphorylated on tyrosine residues by activated ALK and FGFR1. Phosphorylated on tyrosine residues upon activation of FGFR2 and FGFR3. Phosphorylated on threonine residues by MAP kinases; this inhibits tyrosine phosphorylation, and thereby down-regulates FRS2-mediated activation of MAP kinases.;FRS2 is phosphorylated by INSR;FRS2 is phosphorylated by FGFR1;FRS2 is phosphorylated by FGFR3;FRS2 is phosphorylated by NTRK1;FRS2 is phosphorylated by ULK2;FRS2 is phosphorylated by FGFR1 (Phosphotyrosine:PTM-0255);FRS2 is phosphorylated by FGFR4;FRS2 is phosphorylated by ALK (Phosphotyrosine:PTM-0255);FRS2 is phosphorylated by FGFR2 (Phosphotyrosine:PTM-0255) NA Neurotrophin signaling pathway;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;PI-3K cascade:FGFR2;FRS-mediated FGFR2 signaling;FRS-mediated FGFR3 signaling;PI-3K cascade:FGFR3;FRS-mediated FGFR4 signaling;PI-3K cascade:FGFR4;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;Frs2-mediated activation;Signaling by FGFR4 in disease;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Signaling by FGFR3 point mutants in cancer;Signaling by FGFR3 fusions in cancer;RET signaling;Activated NTRK2 signals through FRS2 and FRS3 PE1 12 +NX_Q8WU39 Marginal zone B- and B1-cell-specific protein 189 20694 5.37 0 Cytoplasm;Endoplasmic reticulum lumen;Secreted NA Acts as a hormone-regulated adipokine/proinflammatory cytokine that is implicated in causing chronic inflammation, affecting cellular expansion and blunting insulin response in adipocytes. May have a role in the onset of insulin resistance.;Associates with immunoglobulin M (IgM) heavy and light chains and promotes IgM assembly and secretion. May exert its effect by acting as a molecular chaperone or as an oxidoreductase as it displays a low level of oxidoreductase activity (By similarity).;May be involved in regulation of apoptosis. Helps to diversify peripheral B-cell functions by regulating Ca(2+) stores, antibody secretion and integrin activation. Forms an interchain disulfide bond with IgM monomers. Belongs to the MZB1 family. NA PE1 5 +NX_Q8WU43 Uncharacterized protein C2orf15 125 13691 5.92 0 NA NA NA NA NA NA PE1 2 +NX_Q8WU49 Uncharacterized protein C7orf33 177 19475 10.26 0 NA NA NA NA NA NA PE2 7 +NX_Q8WU58 Protein FAM222B 562 59652 9.35 0 Nucleoplasm NA NA NA Belongs to the FAM222 family. NA PE1 17 +NX_Q8WU66 Thrombospondin-type laminin G domain and EAR repeat-containing protein 669 74924 6.01 0 Cell surface;Stereocilium;Secreted Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis;Deafness, autosomal recessive, 98 Plays a critical role in tooth and hair follicle morphogenesis through regulation of the Notch signaling pathway (PubMed:27736875). May play a role in development or function of the auditory system (PubMed:22678063). NA NA NA PE1 21 +NX_Q8WU67 Phospholipase ABHD3 409 46009 6.7 1 Membrane;Nucleoplasm;Cell membrane;Cytoplasmic vesicle NA Phospholipase that may play a role in phospholipids remodeling. May selectively cleave myristate (C14)-containing phosphatidylcholines through its predominant phospholipase 1 activity, cleaving preferentially acyl groups in sn1 position. In parallel, may have a minor phospholipase 2 activity acting on acyl groups in position sn2. In addition to (C14)-containing phosphatidylcholines, may also act on other medium-chain-containing and oxidatively truncated phospholipids. NA Belongs to the AB hydrolase superfamily. AB hydrolase 4 family. Synthesis of PC PE1 18 +NX_Q8WU68 Splicing factor U2AF 26 kDa subunit 220 25744 6.7 0 Cytoplasm;Nucleoplasm;Nucleus speckle;Nucleus NA RNA-binding protein that function as a pre-mRNA splicing factor. Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Acts by enhancing the binding of U2AF2 to weak pyrimidine tracts. Also participates in the regulation of alternative pre-mRNA splicing. Activates exon 5 skipping of PTPRC during T-cell activation; an event reversed by GFI1. Binds to RNA at the AG dinucleotide at the 3'-splice site (By similarity). Shows a preference for AGC or AGA (By similarity). NA Belongs to the splicing factor SR family. Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 19 +NX_Q8WU76 Sec1 family domain-containing protein 2 684 75127 6.21 0 Nucleoplasm NA May be involved in protein transport. NA Belongs to the STXBP/unc-18/SEC1 family. NA PE1 4 +NX_Q8WU79 Stromal membrane-associated protein 2 429 46786 9.01 0 Cytoplasm NA GTPase activating protein that acts on ARF1. Can also activate ARF6 (in vitro). May play a role in clathrin-dependent retrograde transport from early endosomes to the trans-Golgi network (By similarity). NA NA Endocytosis PE1 1 +NX_Q8WU90 Zinc finger CCCH domain-containing protein 15 426 48602 5.22 0 Cytoplasm;Cytosol;Nucleus NA Protects DRG1 from proteolytic degradation (PubMed:19819225). Stimulates DRG1 GTPase activity likely by increasing the affinity for the potassium ions (PubMed:23711155). NA Belongs to the ZC3H15/TMA46 family. NA PE1 2 +NX_Q8WUA2 Peptidyl-prolyl cis-trans isomerase-like 4 492 57225 5.63 0 Nucleoplasm;Nucleus NA PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity). NA Belongs to the cyclophilin-type PPIase family. PPIL4 subfamily. mRNA Splicing - Major Pathway PE1 6 +NX_Q8WUA4 General transcription factor 3C polypeptide 2 911 100680 6.94 0 Nucleoplasm;Nucleus NA Required for RNA polymerase III-mediated transcription. Component of TFIIIC that initiates transcription complex assembly on tRNA and is required for transcription of 5S rRNA and other stable nuclear and cytoplasmic RNAs. May play a direct role in stabilizing interactions of TFIIIC2 with TFIIIC1. NA NA RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter PE1 2 +NX_Q8WUA7 TBC1 domain family member 22A 517 59121 5.63 0 Golgi apparatus;Nucleoplasm;Cytoplasmic vesicle NA May act as a GTPase-activating protein for Rab family protein(s). NA NA NA PE1 22 +NX_Q8WUA8 Tsukushin 353 37807 6.38 0 Nucleoplasm;Secreted;Nucleus NA NA NA NA NA PE1 11 +NX_Q8WUB2 Protein FAM216A 273 30792 9.39 0 Cytoskeleton NA NA NA Belongs to the FAM216 family. NA PE1 12 +NX_Q8WUB8 PHD finger protein 10 498 56051 6.23 0 Nucleoplasm;Nucleus NA Involved in transcription activity regulation by chromatin remodeling. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). NA Belongs to the SAYP family. NA PE1 6 +NX_Q8WUD1 Ras-related protein Rab-2B 216 24214 7.69 0 Endoplasmic reticulum membrane;Cell membrane;Golgi apparatus membrane NA Required for protein transport from the endoplasmic reticulum to the Golgi complex. NA Belongs to the small GTPase superfamily. Rab family. RAB geranylgeranylation PE1 14 +NX_Q8WUD4 Coiled-coil domain-containing protein 12 166 19181 6.81 0 Nucleoplasm;Nucleus NA NA NA NA Spliceosome PE1 3 +NX_Q8WUD6 Cholinephosphotransferase 1 406 45097 6.45 8 Cytoplasmic vesicle;Golgi apparatus membrane NA Catalyzes phosphatidylcholine biosynthesis from CDP-choline. It thereby plays a central role in the formation and maintenance of vesicular membranes. NA Belongs to the CDP-alcohol phosphatidyltransferase class-I family. Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from phosphocholine: step 2/2.;Glycerophospholipid metabolism;Ether lipid metabolism;Metabolic pathways;Synthesis of PC PE1 12 +NX_Q8WUE5 Cancer/testis antigen 55 264 29052 5.26 0 Cytoplasmic vesicle NA NA NA NA NA PE1 X +NX_Q8WUF5 RelA-associated inhibitor 828 89091 6.37 0 Cytoplasm;Cytosol;Nucleus NA Regulator that plays a central role in regulation of apoptosis and transcription via its interaction with NF-kappa-B and p53/TP53 proteins. Blocks transcription of HIV-1 virus by inhibiting the action of both NF-kappa-B and SP1. Also inhibits p53/TP53 function, possibly by preventing the association between p53/TP53 and ASPP1 or ASPP2, and therefore suppressing the subsequent activation of apoptosis (PubMed:12524540). NA Belongs to the iASPP family. Regulation of TP53 Activity through Association with Co-factors PE1 19 +NX_Q8WUF8 Cotranscriptional regulator FAM172A 416 47972 5.75 0 Cytoplasm;Nucleoplasm;Endoplasmic reticulum;Cytosol;Nucleus NA Plays a role in the regulation of alternative splicing, by interacting with AGO2 and CHD7. Seems to be required for stabilizing protein-protein interactions at the chromatin-spliceosome interface. May have hydrolase activity. NA Belongs to the FAM172 family. NA PE1 5 +NX_Q8WUG5 Solute carrier family 22 member 17 538 57686 7.14 11 Vacuole membrane;Cell membrane NA Cell surface receptor for LCN2 (24p3) that plays a key role in iron homeostasis and transport. Able to bind iron-bound LCN2 (holo-24p3), followed by internalization of holo-24p3 and release of iron, thereby increasing intracellular iron concentration and leading to inhibition of apoptosis. Also binds iron-free LCN2 (apo-24p3), followed by internalization of apo-24p3 and its association with an intracellular siderophore, leading to iron chelation and iron transfer to the extracellular medium, thereby reducing intracellular iron concentration and resulting in apoptosis (By similarity). NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. Iron uptake and transport PE1 14 +NX_Q8WUH1 Protein Churchill 139 16111 5.35 0 Cytoplasm;Cytosol;Nucleus NA Transcriptional activator that mediates FGF signaling during neural development. Plays a role in the regulation of cell movement (By similarity). Does not bind DNA by itself. NA Belongs to the Churchill family. NA PE1 14 +NX_Q8WUH2 Transforming growth factor-beta receptor-associated protein 1 860 97158 6.1 0 Cytoplasm;Early endosome;Cytoplasmic vesicle NA Plays a role in the TGF-beta/activin signaling pathway. It associates with inactive heteromeric TGF-beta and activin receptor complexes, mainly through the type II receptor, and is released upon activation of signaling. May recruit SMAD4 to the vicinity of the receptor complex and facilitate its interaction with receptor-regulated Smads, such as SMAD2.;Plays a role in vesicle-mediated protein trafficking of the endocytic membrane transport pathway. Believed to act as a component of the putative CORVET endosomal tethering complexes which is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:25266290). Functions predominantly in APPL1-containing endosomes and in degradative but not recycling trafficking of endocytosed cargo (PubMed:25266290). NA Belongs to the TRAP1 family. NA PE1 2 +NX_Q8WUH6 Transmembrane protein 263 116 11748 9.3 2 Membrane NA NA NA Belongs to the TMEM263 family. NA PE1 12 +NX_Q8WUI4 Histone deacetylase 7 952 102927 7.24 0 Cytoplasm;Cytosol;Nucleus NA Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer factors such as MEF2A, MEF2B and MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression of myocyte enhancer factors (By similarity). May be involved in Epstein-Barr virus (EBV) latency, possibly by repressing the viral BZLF1 gene. Positively regulates the transcriptional repressor activity of FOXP3 (PubMed:17360565). Serves as a corepressor of RARA, causing its deacetylation and inhibition of RARE DNA element binding (PubMed:28167758). In association with RARA, plays a role in the repression of microRNA-10a and thereby in the inflammatory response (PubMed:28167758). May be phosphorylated by CaMK1. Phosphorylated by the PKC kinases PKN1 and PKN2, impairing nuclear import. Phosphorylation at Ser-155 by MARK2, MARK3 and PRKD1 promotes interaction with 14-3-3 proteins and export from the nucleus. Phosphorylation at Ser-155 is a prerequisite for phosphorylation at Ser-181. Belongs to the histone deacetylase family. HD type 2 subfamily. SUMOylation of DNA damage response and repair proteins;Notch-HLH transcription pathway;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Regulation of PTEN gene transcription PE1 12 +NX_Q8WUJ0 Serine/threonine/tyrosine-interacting protein 223 25492 5.89 0 Nucleoplasm;Cytosol;Nucleus NA Catalytically inactive phosphatase (PubMed:23847209). Acts as a nuclear anchor for MAPK1/MAPK3 (ERK1/ERK2) (PubMed:23847209). Modulates cell-fate decisions and cell migration by spatiotemporal regulation of MAPK1/MAPK3 (ERK1/ERK2) (PubMed:23847209). By binding to the F-box of FBXW7, prevents the assembly of FBXW7 into the SCF E3 ubiquitin-protein ligase complex, and thereby inhibits degradation of its substrates (PubMed:28007894). Plays a role in spermatogenesis (By similarity). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily. NA PE1 14 +NX_Q8WUJ1 Neuferricin 264 28690 8.73 0 Nucleolus;Centrosome;Secreted;Nucleus membrane NA Heme-binding protein which promotes neuronal but not astrocyte differentiation. NA Belongs to the cytochrome b5 family. MAPR subfamily. NA PE1 17 +NX_Q8WUJ3 Cell migration-inducing and hyaluronan-binding protein 1361 152998 7.98 0 Cytoplasm;Cell membrane;Secreted;Clathrin-coated pit;Endoplasmic reticulum;Nucleus NA Mediates depolymerization of hyaluronic acid (HA) via the cell membrane-associated clathrin-coated pit endocytic pathway. Binds to hyaluronic acid. Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product, a process that may occur through rapid vesicle endocytosis and recycling without intracytoplasmic accumulation or digestion in lysosomes. Involved in hyaluronan catabolism in the dermis of the skin and arthritic synovium. Positively regulates epithelial-mesenchymal transition (EMT), and hence tumor cell growth, invasion and cancer dissemination. In collaboration with HSPA5/BIP, promotes cancer cell migration in a calcium and PKC-dependent manner. May be involved in hearing. N-glycosylated; glycosylation is not necessary for HA-binding. Belongs to the CEMIP family. Hyaluronan biosynthesis and export PE1 15 +NX_Q8WUK0 Phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1 201 22844 9.8 0 Mitochondrion inner membrane;Mitochondrion NA Lipid phosphatase which dephosphorylates phosphatidylglycerophosphate (PGP) to phosphatidylglycerol (PG) (By similarity). PGP is an essential intermediate in the biosynthetic pathway of cardiolipin, a mitochondrial-specific phospholipid regulating the membrane integrity and activities of the organelle (By similarity). Has also been shown to display phosphatase activity toward phosphoprotein substrates, specifically mediates dephosphorylation of mitochondrial proteins, thereby playing an essential role in ATP production (By similarity). Has probably a preference for proteins phosphorylated on Ser and/or Thr residues compared to proteins phosphorylated on Tyr residues (By similarity). Probably involved in regulation of insulin secretion in pancreatic beta cells (By similarity). May prevent intrinsic apoptosis, probably by regulating mitochondrial membrane integrity (PubMed:24709986). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. Phospholipid metabolism; phosphatidylglycerol biosynthesis; phosphatidylglycerol from CDP-diacylglycerol: step 2/2.;Synthesis of PG PE1 11 +NX_Q8WUM0 Nuclear pore complex protein Nup133 1156 128979 4.97 0 Kinetochore;Nucleus membrane;Nuclear pore complex Nephrotic syndrome 18;Galloway-Mowat syndrome 8 Involved in poly(A)+ RNA transport. Involved in nephrogenesis (PubMed:30179222). NA Belongs to the nucleoporin Nup133 family. RNA transport;Separation of Sister Chromatids;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 1 +NX_Q8WUM4 Programmed cell death 6-interacting protein 868 96023 6.13 0 Extracellular exosome;Tight junction;Melanosome;Centrosome;Cytoplasmic vesicle;Cytosol;Midbody ring NA (Microbial infection) Involved in HIV-1 virus budding. Can replace TSG101 it its role of supporting HIV-1 release; this function requires the interaction with CHMP4B. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as enveloped virus budding (HIV-1 and other lentiviruses).;Multifunctional protein involved in endocytosis, multivesicular body biogenesis, membrane repair, cytokinesis, apoptosis and maintenance of tight junction integrity. Class E VPS protein involved in concentration and sorting of cargo proteins of the multivesicular body (MVB) for incorporation into intralumenal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome. Binds to the phospholipid lysobisphosphatidic acid (LBPA) which is abundant in MVBs internal membranes. The MVB pathway requires the sequential function of ESCRT-O, -I,-II and -III complexes (PubMed:14739459). The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis (PubMed:17853893, PubMed:17556548). Adapter for a subset of ESCRT-III proteins, such as CHMP4, to function at distinct membranes. Required for completion of cytokinesis (PubMed:17853893, PubMed:17556548, PubMed:18641129). May play a role in the regulation of both apoptosis and cell proliferation. Regulates exosome biogenesis in concert with SDC1/4 and SDCBP (PubMed:22660413). By interacting with F-actin, PARD3 and TJP1 secures the proper assembly and positioning of actomyosin-tight junction complex at the apical sides of adjacent epithelial cells that defines a spatial membrane domain essential for the maintenance of epithelial cell polarity and barrier (By similarity). May be phosphorylated on tyrosine residues by activated PDGFRB.;PDCD6IP is phosphorylated by SRC (Phosphotyrosine:PTM-0255) NA Endocytosis;Uptake and function of anthrax toxins;Budding and maturation of HIV virion PE1 3 +NX_Q8WUM9 Sodium-dependent phosphate transporter 1 679 73700 6.65 10 Membrane;Cytoplasmic vesicle NA (Microbial infection) May function as a retroviral receptor as it confers human cells susceptibility to infection to Gibbon Ape Leukemia Virus (GaLV), Simian sarcoma-associated virus (SSAV) and Feline leukemia virus subgroup B (FeLV-B) as well as 10A1 murine leukemia virus (10A1 MLV).;Sodium-phosphate symporter which plays a fundamental housekeeping role in phosphate transport, such as absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. May play a role in extracellular matrix and cartilage calcification as well as in vascular calcification. NA Belongs to the inorganic phosphate transporter (PiT) (TC 2.A.20) family. Sodium-coupled phosphate cotransporters PE1 2 +NX_Q8WUN7 Ubiquitin domain-containing protein 2 234 26190 5.45 0 Cytoplasm NA NA NA NA NA PE1 5 +NX_Q8WUP2 Filamin-binding LIM protein 1 373 40670 5.71 0 Stress fiber;Cell junction;Focal adhesion;Nucleolus NA Serves as an anchoring site for cell-ECM adhesion proteins and filamin-containing actin filaments. Is implicated in cell shape modulation (spreading) and motility. May participate in the regulation of filamin-mediated cross-linking and stabilization of actin filaments. May also regulate the assembly of filamin-containing signaling complexes that control actin assembly. Promotes dissociation of FLNA from ITGB3 and ITGB7. Promotes activation of integrins and regulates integrin-mediated cell-cell adhesion. NA NA Cell-extracellular matrix interactions PE1 1 +NX_Q8WUQ7 Cactin 758 88702 9.17 0 Nucleoplasm;Cytosol;Nucleus speckle;Nucleus NA Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon-regulatory factor (IRF) signaling pathways. Contributes to the regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli. May play a role during early embryonic development. Probably involved in pre-mRNA splicing. NA Belongs to the CACTIN family. NA PE1 19 +NX_Q8WUR7 UPF0235 protein C15orf40 153 16353 9.85 0 Nucleoplasm;Cytosol NA NA NA Belongs to the UPF0235 family. NA PE1 15 +NX_Q8WUS8 Short-chain dehydrogenase/reductase family 42E member 1 393 44284 8.43 2 Membrane NA NA NA Belongs to the 3-beta-HSD family. NA PE2 16 +NX_Q8WUT4 Leucine-rich repeat neuronal protein 4 740 78843 6.82 1 Membrane NA May play an important role in hippocampus-dependent long-lasting memory. NA NA NA PE1 20 +NX_Q8WUT9 Solute carrier family 25 member 43 341 37718 9.91 6 Nucleoplasm;Mitochondrion inner membrane NA NA NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 X +NX_Q8WUU4 Zinc finger protein 296 475 50810 9.13 0 Nucleoplasm;Centrosome;Nucleus NA May be a transcriptional corepressor with KLF4. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q8WUU5 GATA zinc finger domain-containing protein 1 269 28690 9.47 0 Nucleoplasm;Nucleus Cardiomyopathy, dilated 2B Component of some chromatin complex recruited to chromatin sites methylated 'Lys-4' of histone H3 (H3K4me). NA NA NA PE1 7 +NX_Q8WUU8 Transmembrane protein 174 243 26287 4.2 2 Endoplasmic reticulum membrane NA NA NA NA NA PE1 5 +NX_Q8WUW1 Protein BRICK1 75 8745 5.35 0 Cell junction;Nucleus speckle;Cytoskeleton NA Involved in regulation of actin and microtubule organization. Part of a WAVE complex that activates the Arp2/3 complex. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity). NA Belongs to the BRK1 family. Regulation of actin cytoskeleton;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;VEGFA-VEGFR2 Pathway PE1 3 +NX_Q8WUX1 Sodium-coupled neutral amino acid transporter 5 472 51457 8.53 11 Cytoplasmic vesicle;Cytosol;Cell membrane NA Functions as a sodium-dependent amino acid transporter which countertransport protons. Mediates the saturable, pH-sensitive, and electrogenic cotransport of several neutral amino acids including glycine, asparagine, alanine, serine, glutamine and histidine with sodium. NA Belongs to the amino acid/polyamine transporter 2 family. GABAergic synapse;Amino acid transport across the plasma membrane PE1 X +NX_Q8WUX2 Glutathione-specific gamma-glutamylcyclotransferase 2 184 20875 5.31 0 Cytosol NA Catalyzes the cleavage of glutathione into 5-oxo-L-proline and a Cys-Gly dipeptide. Acts specifically on glutathione, but not on other gamma-glutamyl peptides. NA Belongs to the gamma-glutamylcyclotransferase family. ChaC subfamily. Glutathione synthesis and recycling PE1 2 +NX_Q8WUX9 Charged multivesicular body protein 7 453 50911 5.26 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus envelope NA ESCRT-III-like protein required to recruit the ESCRT-III complex to the nuclear envelope during late anaphase (PubMed:26040712). Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). Plays a role in the endosomal sorting pathway (PubMed:16856878). NA Belongs to the SNF7 family. Endocytosis;Macroautophagy;Budding and maturation of HIV virion;Endosomal Sorting Complex Required For Transport (ESCRT);Microautophagy PE1 8 +NX_Q8WUY1 Protein THEM6 208 23865 9.71 0 Cytosol;Nucleus speckle;Secreted NA NA NA Belongs to the THEM6 family. NA PE1 8 +NX_Q8WUY3 Protein prune homolog 2 3088 340635 4.34 0 Cytoplasm NA May play an important role in regulating differentiation, survival and aggressiveness of the tumor cells. NA Belongs to the PPase class C family. Prune subfamily. NA PE1 9 +NX_Q8WUY8 N-acetyltransferase 14 206 21650 10.75 1 Membrane;Mitochondrion NA Probable acetyltransferase that binds the 5'-GGACTACAG-3' sequence of coproporphyrinogen oxidase promoter. Able to activate transcription of a reporter construct in vitro. NA Belongs to the camello family. NA PE1 19 +NX_Q8WUY9 DEP domain-containing protein 1B 529 61771 9.04 0 Nucleoplasm;Golgi apparatus;Cytosol NA NA NA NA Rho GTPase cycle PE1 5 +NX_Q8WUZ0 B-cell CLL/lymphoma 7 protein family member C 217 23468 5.15 0 Nucleoplasm NA May play an anti-apoptotic role. NA Belongs to the BCL7 family. NA PE1 16 +NX_Q8WV07 Protein LTO1 homolog 137 15354 5.5 0 Nucleoplasm;Nucleus NA The complex LTO1:YAE1 functions as a target specific adapter that probably recruits apo-ABCE1 to the cytosolic iron-sulfur protein assembly (CIA) complex machinery (PubMed:26182403). May be required for biogenesis of the large ribosomal subunit and initiation of translation (PubMed:23318452). May play a role in the regulation of proline metabolism and ROS production (PubMed:24930674). NA Belongs to the LTO1 family. NA PE1 11 +NX_Q8WV15 Transmembrane protein 255B 326 34609 6.28 4 Membrane;Nucleoplasm NA NA NA Belongs to the TMEM255 family. NA PE2 13 +NX_Q8WV16 DDB1- and CUL4-associated factor 4 495 55694 9.38 0 Nucleoplasm NA May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. NA NA Protein modification; protein ubiquitination.;Neddylation PE1 14 +NX_Q8WV19 Vesicle transport protein SFT2A 159 17804 8.98 4 Membrane;Nucleoplasm;Cytosol;Nucleus NA May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex. NA Belongs to the SFT2 family. NA PE1 6 +NX_Q8WV22 Non-structural maintenance of chromosomes element 1 homolog 266 30855 7.13 0 Cytoplasmic vesicle;Nucleoplasm;Telomere;Nucleus NA RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. Within MAGE-RING ubiquitin ligase complex, MAGE stimulates and specifies ubiquitin ligase activity likely through recruitment and/or stabilization of the E2 ubiquitin-conjugating enzyme at the E3:substrate complex. Involved in maintenance of genome integrity, DNA damage response and DNA repair (PubMed:29225034, PubMed:20864041). NSMCE3/MAGEG1 and NSMCE1 ubiquitin ligase are components of SMC5-SMC6 complex and may positively regulate homologous recombination-mediated DNA repair (PubMed:18086888). MAGEF1-NSMCE1 ubiquitin ligase promotes proteasomal degradation of MMS19, a key component of the cytosolic iron-sulfur protein assembly (CIA) machinery. Down-regulation of MMS19 impairs the activity of several DNA repair and metabolism enzymes such as ERCC2/XPD, FANCJ, RTEL1 and POLD1 that require iron-sulfur clusters as cofactors (PubMed:29225034). Ubiquitinated. Belongs to the NSE1 family. SUMOylation of DNA damage response and repair proteins PE1 16 +NX_Q8WV24 Pleckstrin homology-like domain family A member 1 401 45016 9.94 0 Nucleoplasm;Cytoplasm;Nucleolus;Cytoplasmic vesicle NA Seems to be involved in regulation of apoptosis. May be involved in detachment-mediated programmed cell death. May mediate apoptosis during neuronal development. May be involved in regulation of anti-apoptotic effects of IGF1. May be involved in translational regulation. NA NA Interaction between PHLDA1 and AURKA PE1 12 +NX_Q8WV28 B-cell linker protein 456 50466 8.18 0 Cytoplasm;Cytosol;Cell membrane Agammaglobulinemia 4, autosomal recessive Functions as a central linker protein, downstream of the B-cell receptor (BCR), bridging the SYK kinase to a multitude of signaling pathways and regulating biological outcomes of B-cell function and development. Plays a role in the activation of ERK/EPHB2, MAP kinase p38 and JNK. Modulates AP1 activation. Important for the activation of NF-kappa-B and NFAT. Plays an important role in BCR-mediated PLCG1 and PLCG2 activation and Ca(2+) mobilization and is required for trafficking of the BCR to late endosomes. However, does not seem to be required for pre-BCR-mediated activation of MAP kinase and phosphatidyl-inositol 3 (PI3) kinase signaling. May be required for the RAC1-JNK pathway. Plays a critical role in orchestrating the pro-B cell to pre-B cell transition. May play an important role in BCR-induced B-cell apoptosis. Following BCR activation, phosphorylated on tyrosine residues by SYK and LYN. When phosphorylated, serves as a scaffold to assemble downstream targets of antigen activation, including PLCG1, VAV1, GRB2 and NCK1. Phosphorylation of Tyr-84, Tyr-178 and Tyr-189 facilitates PLCG1 binding. Phosphorylation of Tyr-96 facilitates BTK binding. Phosphorylation of Tyr-72 facilitates VAV1 and NCK1 binding. Phosphorylation is required for both Ca(2+) and MAPK signaling pathways. NA Osteoclast differentiation;B cell receptor signaling pathway;Primary immunodeficiency;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Regulation of signaling by CBL PE1 10 +NX_Q8WV35 Leucine-rich repeat-containing protein 29 223 23797 8.08 0 Nucleoplasm NA Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. NA NA NA PE1 16 +NX_Q8WV37 Zinc finger protein 480 535 61708 9.26 0 Nucleoplasm;Nucleus NA Involved in transcriptional regulation as an activator. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8WV41 Sorting nexin-33 574 65265 6.3 0 Membrane;Cytoplasmic vesicle membrane;Cytosol NA Plays a role in the reorganization of the cytoskeleton, endocytosis and cellular vesicle trafficking via its interactions with membranes, WASL, DNM1 and DNM2. Acts both during interphase and at the end of mitotic cell divisions. Required for efficient progress through mitosis and cytokinesis. Required for normal formation of the cleavage furrow at the end of mitosis. Modulates endocytosis of cell-surface proteins, such as APP and PRNP; this then modulates the secretion of APP and PRNP peptides. Promotes membrane tubulation (in vitro). May promote the formation of macropinosomes. Phosphorylated. Belongs to the sorting nexin family. NA PE1 15 +NX_Q8WV44 E3 ubiquitin-protein ligase TRIM41 630 71670 4.99 0 Cytoplasm;Nucleus;Nucleolus NA Functions as an E3 ligase that catalyzes the ubiquitin-mediated degradation of protein kinase C. Auto-ubiquitinated. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 5 +NX_Q8WV48 Coiled-coil domain-containing protein 107 283 30509 5.04 1 Membrane;Nucleoplasm;Cell junction;Cell membrane NA NA NA NA NA PE1 9 +NX_Q8WV60 Pentatricopeptide repeat-containing protein 2, mitochondrial 388 43968 9.33 0 Mitochondrion NA Involved in mitochondrial RNA maturation and mitochondrial respiratory chain function. NA Belongs to the PTCD2 family. NA PE1 5 +NX_Q8WV74 Nucleoside diphosphate-linked moiety X motif 8 236 25370 8.74 0 Cytosol;Nucleolus NA Probably mediates the hydrolysis of some nucleoside diphosphate derivatives. NA Belongs to the Nudix hydrolase family. NA PE1 11 +NX_Q8WV83 Solute carrier family 35 member F5 523 58887 9.39 10 Membrane;Cell membrane NA Putative solute transporter. NA Belongs to the SLC35F solute transporter family. NA PE1 2 +NX_Q8WV92 MIT domain-containing protein 1 249 29314 8.12 0 Membrane;Midbody;Late endosome membrane;Cytoplasmic vesicle NA Required for efficient abscission at the end of cytokinesis, together with components of the ESCRT-III complex. NA NA NA PE1 2 +NX_Q8WV93 AFG1-like ATPase 481 54845 6.87 0 Mitochondrion membrane;Cytosol;Cell membrane NA Putative mitochondrial ATPase. Plays a role in mitochondrial morphology and mitochondrial protein metabolism. Promotes degradation of excess nuclear-encoded complex IV subunits (COX4I1, COX5A and COX6A1) and normal activity of complexes III and IV of the respiratory chain (PubMed:26759378, PubMed:27323408). Mediates mitochondrial translocation of TP53 and its transcription-independent apoptosis in response to genotoxic stress (PubMed:27323408). NA Belongs to the AFG1 ATPase family. NA PE1 6 +NX_Q8WV99 AN1-type zinc finger protein 2B 257 28023 6.5 0 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Nucleolus NA Plays a role in protein homeostasis by regulating both the translocation and the ubiquitin-mediated proteasomal degradation of nascent proteins at the endoplasmic reticulum. It is involved in the regulation of signal-mediated translocation of proteins into the endoplasmic reticulum. It also plays a role in the ubiquitin-mediated proteasomal degradation of proteins for which signal-mediated translocation to the endoplasmic reticulum has failed. May therefore function in the endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (By similarity). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). Phosphorylated by MAPK14. Phosphorylation has no effect on association with the proteasome complex. NA NA PE1 2 +NX_Q8WVB3 Hexosaminidase D 486 53790 5.61 0 Cytoplasm;Mitochondrion;Nucleolus;Extracellular vesicle;Nucleus NA Has hexosaminidase activity. Responsible for the cleavage of the monosaccharides N-acetylglucosamine (GlcNAc) and N-acetylgalactosamine (GalNAc) from cellular substrates. Has a preference for galactosaminide over glucosaminide substrates (PubMed:27149221). NA Belongs to the glycosyl hydrolase 20 family. Other glycan degradation PE1 17 +NX_Q8WVB6 Chromosome transmission fidelity protein 18 homolog 975 107383 6.78 0 Nucleoplasm;Nucleus NA Chromosome cohesion factor involved in sister chromatid cohesion and fidelity of chromosome transmission. Component of one of the cell nuclear antigen loader complexes, CTF18-replication factor C (CTF18-RFC), which consists of CTF18, CTF8, DCC1, RFC2, RFC3, RFC4 and RFC5. The CTF18-RFC complex binds to single-stranded and primed DNAs and has weak ATPase activity that is stimulated by the presence of primed DNA, replication protein A (RPA) and by proliferating cell nuclear antigen (PCNA). The CTF18-RFC complex catalyzes the ATP-dependent loading of PCNA onto primed and gapped DNA. It also interacts with and stimulates DNA polymerase POLH. NA Belongs to the activator 1 small subunits family. CTF18 subfamily. NA PE1 16 +NX_Q8WVC0 RNA polymerase-associated protein LEO1 666 75404 4.38 0 Nucleoplasm;Nucleus;Centrosome;Nucleolus NA Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Involved in polyadenylation of mRNA precursors. Connects PAF1C to Wnt signaling. NA Belongs to the LEO1 family. Formation of RNA Pol II elongation complex;RNA Polymerase II Pre-transcription Events;RNA Polymerase II Transcription Elongation;Formation of the beta-catenin:TCF transactivating complex;E3 ubiquitin ligases ubiquitinate target proteins PE1 15 +NX_Q8WVC6 Dephospho-CoA kinase domain-containing protein 231 26550 9.61 0 Nucleoplasm NA NA NA Belongs to the CoaE family. NA PE1 17 +NX_Q8WVD3 E3 ubiquitin-protein ligase RNF138 245 28193 6.5 0 Mitochondrion;Chromosome NA E3 ubiquitin-protein ligase involved in DNA damage response by promoting DNA resection and homologous recombination (PubMed:26502055, PubMed:26502057). Recruited to sites of double-strand breaks following DNA damage and specifically promotes double-strand break repair via homologous recombination (PubMed:26502055, PubMed:26502057). Two different, non-exclusive, mechanisms have been proposed. According to a report, regulates the choice of double-strand break repair by favoring homologous recombination over non-homologous end joining (NHEJ): acts by mediating ubiquitination of XRCC5/Ku80, leading to remove the Ku complex from DNA breaks, thereby promoting homologous recombination (PubMed:26502055). According to another report, cooperates with UBE2Ds E2 ubiquitin ligases (UBE2D1, UBE2D2, UBE2D3 or UBE2D4) to promote homologous recombination by mediating ubiquitination of RBBP8/CtIP (PubMed:26502057). Together with NLK, involved in the ubiquitination and degradation of TCF/LEF (PubMed:16714285). Also exhibits auto-ubiquitination activity in combination with UBE2K (PubMed:16714285). May act as a negative regulator in the Wnt/beta-catenin-mediated signaling pathway (PubMed:16714285). Auto-ubiquitinated. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 18 +NX_Q8WVD5 RING finger protein 141 230 25535 5.07 0 Membrane;Nucleoplasm;Cytoskeleton NA May be involved in spermatogenesis. NA NA NA PE1 11 +NX_Q8WVE0 EEF1A lysine methyltransferase 1 214 24506 4.47 0 Cytoplasm;Cytosol;Cell membrane NA Protein-lysine methyltransferase that selectively catalyzes the trimethylation of EEF1A at 'Lys-79'. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. EFM5 family. Protein methylation PE1 13 +NX_Q8WVE6 Transmembrane protein 171 324 34760 4.73 4 Membrane NA NA NA NA NA PE1 5 +NX_Q8WVE7 Transmembrane protein 170A 144 15250 9.3 3 Endoplasmic reticulum membrane;Nucleus envelope NA Acts as a regulator of endoplasmic reticulum (ER) and nuclear envelope (NE) morphogenesis. Affects the ratio between tubular ER and ER sheets by promoting sheet formation at the expense of tubules. Influences NE expansion, nuclear pore complex formation and proper localization of inner nuclear membrane proteins (PubMed:26906412). NA Belongs to the TMEM170 family. NA PE1 16 +NX_Q8WVF1 Protein OSCP1 389 44586 5.64 0 Nucleoplasm;Basal cell membrane;Nucleolus;Cell membrane NA May be involved in drug clearance in the placenta. NA NA NA PE1 1 +NX_Q8WVF2 Unique cartilage matrix-associated protein 138 16563 5.47 0 Extracellular matrix NA May be involved in the negative control of osteogenic differentiation of osteochondrogenic precursor cells in peripheral zones of fetal cartilage and at the cartilage-bone interface. Sulfated on tyrosine residues.;Proteolytically cleaved by a furin-like convertase to generate a persistent C-terminal fragment found in almost the entire cartilage matrix, and affecting osteoblast differentiation. Belongs to the UCMA family. RUNX2 regulates osteoblast differentiation PE1 10 +NX_Q8WVF5 BTB/POZ domain-containing protein KCTD4 259 29967 6.62 0 Centriolar satellite NA NA NA NA NA PE1 13 +NX_Q8WVH0 Complexin-3 158 17557 4.89 0 Synapse;Cell membrane NA Complexin that regulates SNARE protein complex-mediated synaptic vesicle fusion (By similarity). Required for the maintenance of synaptic ultrastructure in the adult retina (By similarity). Positively regulates synaptic transmission through synaptic vesicle availability and exocytosis of neurotransmitters at photoreceptor ribbon synapses in the retina (By similarity). Suppresses tonic photoreceptor activity and baseline 'noise' by suppression of Ca(2+) vesicle tonic release and the facilitation of evoked synchronous and asynchronous Ca(2+) vesicle release (By similarity). Farnesylation mediates presynaptic targeting. Belongs to the complexin/synaphin family. Synaptic vesicle cycle PE1 15 +NX_Q8WVI0 Small integral membrane protein 4 70 8696 10.87 1 Membrane;Nucleoplasm;Mitochondrion;Cell membrane NA NA NA Belongs to the SMIM4 family. NA PE1 3 +NX_Q8WVI7 Protein phosphatase 1 regulatory subunit 1C 109 12346 6.31 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Nucleolus NA May increase cell susceptibility to TNF-induced apoptosis. NA Belongs to the protein phosphatase inhibitor 1 family. NA PE1 2 +NX_Q8WVJ2 NudC domain-containing protein 2 157 17676 4.99 0 Kinetochore;Cytoplasm;Spindle pole;Centrosome;Cytosol;Spindle;Nucleus;Cytoskeleton NA May regulate the LIS1/dynein pathway by stabilizing LIS1 with Hsp90 chaperone. NA NA NA PE1 5 +NX_Q8WVJ9 Twist-related protein 2 160 18124 9.51 0 Nucleoplasm;Nucleus;Cytoplasm;Nucleolus Ablepharon-macrostomia syndrome;Barber-Say syndrome;Focal facial dermal dysplasia 3, Setleis type Binds to the E-box consensus sequence 5'-CANNTG-3' as a heterodimer and inhibits transcriptional activation by MYOD1, MYOG, MEF2A and MEF2C. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Involved in postnatal glycogen storage and energy metabolism (By similarity). Inhibits the premature or ectopic differentiation of preosteoblast cells during osteogenesis, possibly by changing the internal signal transduction response of osteoblasts to external growth factors. NA NA Transcriptional regulation by RUNX2 PE1 2 +NX_Q8WVK2 U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein 155 18860 11.62 0 Nucleoplasm;Nucleus NA May play a role in mRNA splicing. Phosphorylated in vitro by snRNP-associated protein kinase. Belongs to the SNUT3 family. Spliceosome;mRNA Splicing - Major Pathway PE1 2 +NX_Q8WVK7 Spindle and kinetochore-associated protein 2 121 14188 6.75 0 Spindle;Kinetochore NA Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation (PubMed:17093495, PubMed:19289083, PubMed:23085020). Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint (PubMed:17093495). The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies (PubMed:19289083). The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner (PubMed:17093495, PubMed:19289083). In the complex, it is required for SKA1 localization (PubMed:19289083). Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules (PubMed:23085020). NA Belongs to the SKA2 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 17 +NX_Q8WVL7 Ankyrin repeat domain-containing protein 49 239 27290 5 0 Golgi apparatus;Nucleoplasm;Nucleolus;Nucleus NA Induces HBG1 expression (PubMed:16131492, PubMed:11162141). May have a role in spermatogenesis where it promotes autophagy in response to serum starvation, via the NF-kappaB pathway (By similarity). NA NA NA PE1 11 +NX_Q8WVM0 Dimethyladenosine transferase 1, mitochondrial 346 39543 9.35 0 Mitochondrion NA S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. rRNA adenine N(6)-methyltransferase family. KsgA subfamily. Transcriptional activation of mitochondrial biogenesis;rRNA modification in the mitochondrion PE1 6 +NX_Q8WVM7 Cohesin subunit SA-1 1258 144427 5.4 0 Nucleoplasm;Centromere;Nucleus;Chromosome Mental retardation, autosomal dominant 47 Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Phosphorylated by PLK1. The large dissociation of cohesin from chromosome arms during prophase is partly due to its phosphorylation (By similarity). Belongs to the SCC3 family. Cell cycle;Separation of Sister Chromatids;SUMOylation of DNA damage response and repair proteins;Establishment of Sister Chromatid Cohesion;Cohesin Loading onto Chromatin;Resolution of Sister Chromatid Cohesion;Meiotic synapsis;Estrogen-dependent gene expression PE1 3 +NX_Q8WVM8 Sec1 family domain-containing protein 1 642 72380 5.89 0 Cytoplasm;Endoplasmic reticulum membrane;Golgi stack membrane;Nucleoplasm;Cytosol NA Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with COG4. Involved in vesicular transport between the endoplasmic reticulum and the Golgi (By similarity). NA Belongs to the STXBP/unc-18/SEC1 family. COPII-mediated vesicle transport PE1 14 +NX_Q8WVN6 Secreted and transmembrane protein 1 248 27039 7 1 Secreted;Cell membrane NA May be involved in thymocyte signaling. NA Belongs to the SECTM family. NA PE1 17 +NX_Q8WVN8 Ubiquitin-conjugating enzyme E2 Q2 375 42818 4.87 0 Cytoplasm NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-linked polyubiquitination. Auto-ubiquitinated in vitro. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Synthesis of active ubiquitin: roles of E1 and E2 enzymes PE1 15 +NX_Q8WVP5 Tumor necrosis factor alpha-induced protein 8-like protein 1 186 20827 9.57 0 Cytoplasm NA Acts as a negative regulator of mTOR activity. NA Belongs to the TNFAIP8 family. PI Metabolism PE1 19 +NX_Q8WVP7 Limb region 1 protein homolog 490 55098 5.68 9 Membrane;Cytosol Preaxial polydactyly 2;Hypoplasia or aplasia of tibia with polydactyly;Syndactyly 4;Laurin-Sandrow syndrome;Acheiropody Putative membrane receptor. NA Belongs to the LIMR family. NA PE1 7 +NX_Q8WVQ1 Soluble calcium-activated nucleotidase 1 401 44840 5.72 1 Golgi stack membrane;Endoplasmic reticulum membrane;Cell membrane Epiphyseal dysplasia, multiple, 7;Desbuquois dysplasia 1 Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP (PubMed:12234496, PubMed:15248776, PubMed:15006348, PubMed:16835225). Involved in proteoglycan synthesis (PubMed:22539336). N-glycosylated. Belongs to the apyrase family. Purine metabolism;Pyrimidine metabolism;Neutrophil degranulation PE1 17 +NX_Q8WVR3 Microtubule-associated protein 11 580 62597 9.13 0 Cytoplasm;Cell membrane;Vesicle;Centriolar satellite;Cytoplasmic vesicle;Spindle;Midbody Microcephaly 25, primary, autosomal recessive Microtubule associated protein wich seems to play a role in spindle dynamics and cell division (PubMed:30715179, PubMed:30447097). Modulates YAP1 activity as transcriptional regulator (PubMed:30447097). NA NA NA PE1 7 +NX_Q8WVS4 WD repeat-containing protein 60 1066 122571 6.88 0 Centriolar satellite;Cilium Short-rib thoracic dysplasia 8 with or without polydactyly May play a role in ciliogenesis. NA NA Intraflagellar transport PE1 7 +NX_Q8WVT3 Trafficking protein particle complex subunit 12 735 79375 4.81 0 Golgi apparatus;Nucleoplasm;Endoplasmic reticulum-Golgi intermediate compartment;Nucleus Encephalopathy, progressive, early-onset, with brain atrophy and spasticity Component of the TRAPP complex, which is involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage (PubMed:21525244, PubMed:28777934). Also plays a role in chromosome congression, kinetochore assembly and stability and controls the recruitment of CENPE to the kinetochores (PubMed:25918224). Phosphorylated as the cells enter mitosis but is dephosphorylated at or before the onset of anaphase. The phosphorylated form recruits CENPE to kinetochores more efficiently than the non-phosphorylated form. NA RAB GEFs exchange GTP for GDP on RABs PE1 2 +NX_Q8WVV4 Protein POF1B 589 68065 5.89 0 Golgi apparatus;Nucleoplasm;Tight junction Premature ovarian failure 2B Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton. May be involved in ovary development. NA NA NA PE1 X +NX_Q8WVV5 Butyrophilin subfamily 2 member A2 523 59070 5.73 1 Membrane;Mitochondrion NA Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion. N-glycosylated. Belongs to the immunoglobulin superfamily. BTN/MOG family. Butyrophilin (BTN) family interactions PE1 6 +NX_Q8WVV9 Heterogeneous nuclear ribonucleoprotein L-like 542 60083 7.83 0 Nucleoplasm;Cytosol;Mitochondrion NA RNA-binding protein that functions as regulator of alternative splicing for multiple target mRNAs, including PTPRC/CD45 and STAT5A. Required for alternative splicing of PTPRC. NA NA NA PE1 2 +NX_Q8WVX3 Uncharacterized protein C4orf3 66 7604 5.07 1 Membrane;Endoplasmic reticulum NA NA NA NA NA PE1 4 +NX_Q8WVX9 Fatty acyl-CoA reductase 1 515 59357 9.25 1 Peroxisome membrane;Peroxisome Peroxisomal fatty acyl-CoA reductase 1 disorder Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols (PubMed:15220348, PubMed:24108123). It plays an essential role in the production of ether lipids/plasmalogens which synthesis requires fatty alcohols (PubMed:20071337, PubMed:24108123). In parallel, it is also required for wax monoesters production since fatty alcohols also constitute a substrate for their synthesis (By similarity). NA Belongs to the fatty acyl-CoA reductase family. Peroxisome;Wax biosynthesis PE1 11 +NX_Q8WVY7 Ubiquitin-like domain-containing CTD phosphatase 1 318 36805 6.07 0 Nucleoplasm;Nucleolus;Nucleus NA Dephosphorylates 26S nuclear proteasomes, thereby decreasing their proteolytic activity. The dephosphorylation may prevent assembly of the core and regulatory particles (CP and RP) into mature 26S proteasome. NA NA NA PE1 5 +NX_Q8WVZ1 Probable palmitoyltransferase ZDHHC19 309 34352 8.54 4 Membrane NA NA NA Belongs to the DHHC palmitoyltransferase family. NA PE1 3 +NX_Q8WVZ7 E3 ubiquitin-protein ligase RNF133 376 42294 7.22 1 Endoplasmic reticulum membrane NA Has E3 ubiquitin-protein ligase activity. Auto-ubiquitinated. NA Protein modification; protein ubiquitination. PE1 7 +NX_Q8WVZ9 Kelch repeat and BTB domain-containing protein 7 684 77163 5.35 0 NA NA NA NA NA Regulation of RAS by GAPs;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 13 +NX_Q8WW01 tRNA-splicing endonuclease subunit Sen15 171 18641 4.46 0 Nucleoplasm;Nucleus;Nucleolus Pontocerebellar hypoplasia 2F Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5' and 3' splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3' cyclic phosphate and 5'-OH termini (PubMed:15109492, PubMed:27392077). There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3'-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3'-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events (PubMed:15109492). NA Belongs to the SEN15 family. tRNA processing in the nucleus PE1 1 +NX_Q8WW12 PEST proteolytic signal-containing nuclear protein 178 18925 6.86 0 Nucleoplasm;Nucleus NA May be involved in cell cycle regulation. Ubiquitinated; mediated by UHRF2 and leading to its subsequent proteasomal degradation.;N-terminally acetylated in a HYPK-dependent manner by the NatA acetyltransferase complex which is composed of NAA10 and NAA15. NA NA PE1 3 +NX_Q8WW14 Uncharacterized protein C10orf82 234 26343 8.67 0 Mitochondrion NA NA NA NA NA PE1 10 +NX_Q8WW18 Uncharacterized protein C17orf50 174 19346 5.26 0 Nucleoplasm NA NA NA NA NA PE1 17 +NX_Q8WW22 DnaJ homolog subfamily A member 4 397 44798 7.52 0 Membrane;Cytosol;Cell membrane NA NA NA NA HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 15 +NX_Q8WW24 Tektin-4 435 50649 6.01 0 Cytoskeleton;Flagellum NA May be a structural component of the sperm flagellum. Contributes to normal sperm motility. NA Belongs to the tektin family. NA PE1 2 +NX_Q8WW27 Putative C->U-editing enzyme APOBEC-4 367 41581 8.08 0 NA NA Putative C to U editing enzyme whose physiological substrate is not yet known. NA Belongs to the cytidine and deoxycytidylate deaminase family. mRNA Editing: C to U Conversion;Formation of the Editosome PE1 1 +NX_Q8WW32 High mobility group protein B4 186 22490 10.21 0 Nucleus;Chromosome NA NA NA Belongs to the HMGB family. NA PE1 1 +NX_Q8WW33 Gametocyte-specific factor 1 167 19266 6.04 0 Cytoplasm;Nucleoplasm NA Required for spermatogenesis and is involved in the suppression of retrotransposon transcription in male germ cells. NA Belongs to the UPF0224 (FAM112) family. NA PE1 12 +NX_Q8WW34 Transmembrane protein 239 195 21842 8.5 2 Membrane NA NA NA NA NA PE1 20 +NX_Q8WW35 Tctex1 domain-containing protein 2 142 16122 4.82 0 Cytosol Short-rib thoracic dysplasia 17 with or without polydactyly Required for proper retrograde ciliary transport. NA Belongs to the dynein light chain Tctex-type family. Intraflagellar transport PE1 3 +NX_Q8WW36 Zinc finger CCHC domain-containing protein 13 166 18005 9.33 0 NA NA NA NA NA NA PE1 X +NX_Q8WW38 Zinc finger protein ZFPM2 1151 128159 6.03 0 Nucleoplasm;Nucleus Conotruncal heart malformations;Diaphragmatic hernia 3;Tetralogy of Fallot;46,XY sex reversal 9 Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA4, GATA5 and GATA6. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. Also required in gonadal differentiation, possibly be regulating expression of SRY. Probably acts a corepressor of NR2F2 (By similarity). Sumoylation reduces transcriptional repression activity. Belongs to the FOG (Friend of GATA) family. Factors involved in megakaryocyte development and platelet production PE1 8 +NX_Q8WW43 Gamma-secretase subunit APH-1B 257 28460 9.21 7 Membrane;Endoplasmic reticulum NA Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (amyloid-beta precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase complexes compared to APH1A. NA Belongs to the APH-1 family. EPH-ephrin mediated repulsion of cells;Amyloid fiber formation;Nuclear signaling by ERBB4;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activated NOTCH1 Transmits Signal to the Nucleus;Regulated proteolysis of p75NTR;NOTCH2 Activation and Transmission of Signal to the Nucleus;NRIF signals cell death from the nucleus;NOTCH3 Activation and Transmission of Signal to the Nucleus;Noncanonical activation of NOTCH3;NOTCH4 Activation and Transmission of Signal to the Nucleus PE1 15 +NX_Q8WW52 Protein FAM151A 585 64028 6.19 1 Membrane NA NA NA Belongs to the FAM151 family. NA PE1 1 +NX_Q8WW59 SPRY domain-containing protein 4 207 23129 6.44 0 Nucleoplasm NA NA NA NA NA PE1 12 +NX_Q8WW62 Transmembrane emp24 domain-containing protein 6 240 27631 8.38 1 Endoplasmic reticulum membrane NA NA NA Belongs to the EMP24/GP25L family. NA PE1 16 +NX_Q8WWA0 Intelectin-1 313 34962 5.66 0 Secreted;Cell membrane NA Lectin that specifically recognizes microbial carbohydrate chains in a calcium-dependent manner (PubMed:11313366, PubMed:26148048). Binds to microbial glycans that contain a terminal acyclic 1,2-diol moiety, including beta-linked D-galactofuranose (beta-Galf), D-phosphoglycerol-modified glycans, D-glycero-D-talo-oct-2-ulosonic acid (KO) and 3-deoxy-D-manno-oct-2-ulosonic acid (KDO) (PubMed:26148048). Binds to glycans from Gram-positive and Gram-negative bacteria, including K.pneumoniae, S.pneumoniae, Y.pestis, P.mirabilis and P.vulgaris (PubMed:26148048). Does not bind human glycans (PubMed:26148048). Probably plays a role in the defense system against microorganisms (Probable). May function as adipokine that has no effect on basal glucose uptake but enhances insulin-stimulated glucose uptake in adipocytes (PubMed:16531507). Increases AKT phosphorylation in the absence and presence of insulin (PubMed:16531507). May interact with lactoferrin/LTF and increase its uptake, and may thereby play a role in iron absorption (PubMed:11747454, PubMed:23921499). N-glycosylated. NA Antimicrobial peptides PE1 1 +NX_Q8WWA1 Transmembrane protein 40 233 25495 5.36 2 Membrane;Cytosol NA NA NA NA NA PE1 3 +NX_Q8WWB3 DPY30 domain-containing protein 1 177 20893 4.64 0 NA NA Plays a crucial role during acrosome biogenesis. NA Belongs to the dpy-30 family. NA PE1 10 +NX_Q8WWB5 PIH1 domain-containing protein 2 315 35957 5.96 0 Nucleoplasm;Cytosol NA NA NA Belongs to the PIH1 family. NA PE1 11 +NX_Q8WWB7 Glycosylated lysosomal membrane protein 406 43864 6.1 1 Lysosome membrane NA NA Highly N-glycosylated. Belongs to the GLMP family. NA PE1 1 +NX_Q8WWC4 m-AAA protease-interacting protein 1, mitochondrial 291 32545 9.31 0 Mitochondrion matrix;Mitochondrion NA Promotes sorting of SMDT1/EMRE in mitochondria by ensuring its maturation (PubMed:27642048). Interacts with the transit peptide region of SMDT1/EMRE precursor protein in the mitochondrial matrix, leading to protect it against protein degradation by YME1L1, thereby ensuring SMDT1/EMRE maturation by the mitochondrial processing peptidase (PMPCA and PMPCB) (PubMed:27642048). NA NA Processing of SMDT1 PE1 2 +NX_Q8WWF1 Uncharacterized protein C1orf54 131 14923 4 0 Secreted;Cell membrane NA NA NA NA NA PE2 1 +NX_Q8WWF3 Serine-rich single-pass membrane protein 1 244 28167 7.64 1 Membrane NA NA NA NA NA PE1 7 +NX_Q8WWF5 E3 ubiquitin-protein ligase ZNRF4 429 46958 8.34 1 Endoplasmic reticulum membrane NA E3 ubiquitin-protein ligase which specifically induces ubiquitination and proteasomal degradation of CANX within the endoplasmic reticulum (PubMed:21205830). Could have a role in spermatogenesis (By similarity). NA NA Protein modification; protein ubiquitination. PE1 19 +NX_Q8WWF6 DnaJ homolog subfamily B member 3 145 16559 4.85 0 NA NA May operate as a co-chaperone of the male germ cell- and haploid stage-specific Hsp70 proteins. NA NA NA PE1 2 +NX_Q8WWF8 Calcyphosin-like protein 208 24229 5.76 0 Nucleoplasm;Cytoplasm;Cytoskeleton NA NA NA NA NA PE1 5 +NX_Q8WWG1 Pro-neuregulin-4, membrane-bound isoform 115 12722 6.12 1 Secreted;Cell membrane NA Low affinity ligand for the ERBB4 tyrosine kinase receptor. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. Does not bind to the ERBB1, ERBB2 and ERBB3 receptors (By similarity). Extensive glycosylation precedes the proteolytic cleavage.;Proteolytic cleavage close to the plasma membrane on the external face leads to the release of the soluble growth factor form. Belongs to the neuregulin family. ErbB signaling pathway;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Signaling by ERBB2;Signaling by ERBB4;SHC1 events in ERBB2 signaling;PI3K events in ERBB4 signaling;SHC1 events in ERBB4 signaling;Nuclear signaling by ERBB4;GRB2 events in ERBB2 signaling;PI3K events in ERBB2 signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;ERBB2 Regulates Cell Motility;ERBB2 Activates PTK6 Signaling;Downregulation of ERBB2 signaling PE1 15 +NX_Q8WWG9 Potassium voltage-gated channel subfamily E member 4 221 23806 4.68 1 Membrane;Nucleus;Cytoskeleton NA Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. May associate with KCNQ1/KVLTQ1 and inhibit potassium current. NA Belongs to the potassium channel KCNE family. Phase 3 - rapid repolarisation;Phase 2 - plateau phase PE1 2 +NX_Q8WWH4 Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 475 53458 5.6 0 Cytoplasm;Nucleoplasm;Cytosol NA Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with pi-bodies suggests a participation in the primary piRNAs metabolic process. Required prior to the pachytene stage to facilitate the production of multiple types of piRNAs, including those associated with repeats involved in the regulation of retrotransposons. May act by mediating protein-protein interactions during germ cell maturation (By similarity). NA NA PIWI-interacting RNA (piRNA) biogenesis PE1 7 +NX_Q8WWH5 Probable tRNA pseudouridine synthase 1 349 37253 8.44 0 Cytoplasmic vesicle;Cytosol;Nucleus;Cytoskeleton NA Pseudouridine synthase that catalyzes pseudouridylation of mRNAs (PubMed:28073919). Mediates pseudouridylation of mRNAs with the consensus sequence 5'-GUUCNANNC-3', harboring a stem-loop structure (PubMed:28073919). Constitutes the major pseudouridine synthase acting on mRNAs (PubMed:28073919). NA Belongs to the pseudouridine synthase TruB family. NA PE1 10 +NX_Q8WWI1 LIM domain only protein 7 1683 192696 8.34 0 Cytosol;Cytoskeleton NA NA NA NA Adherens junction;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 13 +NX_Q8WWI5 Choline transporter-like protein 1 657 73302 8.93 9 Mitochondrion outer membrane;Nucleoplasm;Mitochondrion;Cell membrane NA Choline transporter. May be involved in membrane synthesis and myelin production. NA Belongs to the CTL (choline transporter-like) family. Synthesis of PC;Transport of bile salts and organic acids, metal ions and amine compounds;Choline catabolism PE1 9 +NX_Q8WWK9 Cytoskeleton-associated protein 2 683 76987 9.45 0 Cytosol;Spindle pole;Spindle;Cytoskeleton NA Possesses microtubule stabilizing properties. Involved in regulating aneuploidy, cell cycling, and cell death in a p53/TP53-dependent manner (By similarity). NA Belongs to the CKAP2 family. NA PE1 13 +NX_Q8WWL2 Protein spire homolog 2 714 79671 7.75 0 Cell membrane;Nucleoplasm;Cytoplasmic vesicle membrane;Cytoplasmic vesicle;Cytosol;Cytoskeleton NA Acts as an actin nucleation factor, remains associated with the slow-growing pointed end of the new filament (PubMed:21620703). Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport (By similarity). Required for asymmetric spindle positioning and asymmetric cell division during meiosis (PubMed:21620703). Required for normal formation of the cleavage furrow and for polar body extrusion during female germ cell meiosis (PubMed:21620703). Also acts in the nucleus: together with SPIRE1 and SPIRE2, promotes assembly of nuclear actin filaments in response to DNA damage in order to facilitate movement of chromatin and repair factors after DNA damage (PubMed:26287480). NA Belongs to the spire family. Dorso-ventral axis formation PE1 16 +NX_Q8WWL7 G2/mitotic-specific cyclin-B3 1395 157916 6.28 0 Nucleus speckle;Nucleus NA Cyclins are positive regulatory subunits of the cyclin-dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle, notably via their destruction during cell division. Its tissue specificity suggest that it may be required during early meiotic prophase I. Ubiquitinated (Probable). Ubiquitination leads to its degradation during anaphase entry, after degradation of CCNB1. Belongs to the cyclin family. Cyclin AB subfamily. Cell cycle;p53 signaling pathway;Progesterone-mediated oocyte maturation PE1 X +NX_Q8WWM1 X antigen family member 5 108 12077 4.81 0 Nucleoplasm;Cytoplasmic vesicle NA NA NA Belongs to the GAGE family. NA PE2 X +NX_Q8WWM7 Ataxin-2-like protein 1075 113374 8.7 0 Cytoplasm;Nucleus speckle;Membrane;Cytosol;Cytoplasmic granule NA Involved in the regulation of stress granule and P-body formation. Thrombopoietin triggers the phosphorylation on tyrosine residues in a way that is dependent on MPL C-terminal domain.;Asymmetrically dimethylated. Probably methylated by PRMT1. Belongs to the ataxin-2 family. NA PE1 16 +NX_Q8WWM9 Cytoglobin 190 21405 6.32 0 Cytoplasm;Cytosol;Nucleus speckle NA May have a protective function during conditions of oxidative stress. May be involved in intracellular oxygen storage or transfer. NA Belongs to the globin family. eNOS activation;Intracellular oxygen transport PE1 17 +NX_Q8WWN8 Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3 1544 169844 6.69 0 Cytoplasm;Cell membrane;Lamellipodium;Ruffle;Cytoskeleton NA Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency. Acts on ARF6, RAC1, RHOA and CDC42. Plays a role in the internalization of anthrax toxin. Tyrosine phosphorylated at a low basal level. PDGF treatment stimulates phosphorylation. Tyrosine phosphorylation is increased in cells that are in the process of becoming attached to a substrate and that start spreading and flattening (By similarity). NA Endocytosis;Rho GTPase cycle PE1 5 +NX_Q8WWN9 Interactor protein for cytohesin exchange factors 1 437 48993 7.17 0 Cytoplasm;Cell membrane NA Enhances the promotion of guanine-nucleotide exchange by PSCD2 on ARF6 in a concentration-dependent manner. NA NA NA PE1 6 +NX_Q8WWP7 GTPase IMAP family member 1 306 34369 9.11 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Golgi apparatus membrane NA May regulate lymphocyte survival. Required for normal levels of mature T-lymphocytes and mature B-cells (By similarity). NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase family. IAN subfamily. NA PE1 7 +NX_Q8WWQ0 PH-interacting protein 1821 206689 9.02 0 Nucleoplasm;Nucleus Developmental delay, intellectual disability, obesity, and dysmorphic features Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization. NA NA NA PE1 6 +NX_Q8WWQ2 Inactive heparanase-2 592 66596 9.95 0 Extracellular matrix Urofacial syndrome 1 Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro). NA Belongs to the glycosyl hydrolase 79 family. Glycosaminoglycan degradation;Metabolic pathways;HS-GAG degradation PE1 10 +NX_Q8WWQ8 Stabilin-2 2551 276988 6 1 Cytoplasm;Cytosol;Cell membrane NA Phosphatidylserine receptor that enhances the engulfment of apoptotic cells. Hyaluronan receptor that binds to and mediates endocytosis of hyaluronic acid (HA). Acts also, in different species, as a primary systemic scavenger receptor for heparin (Hep), chondroitin sulfate (CS), dermatan sulfate (DS), nonglycosaminoglycan (GAG), acetylated low-density lipoprotein (AcLDL), pro-collagen propeptides and advanced glycation end products (AGE). May serve to maintain tissue integrity by supporting extracellular matrix turnover or it may contribute to maintaining fluidity of bodily liquids by resorption of hyaluronan. Counter receptor which plays an important role in lymphocyte recruitment in the hepatic vasculature. Binds to both Gram-positive and Gram-negative bacteria and may play a role in defense against bacterial infection. The proteolytically processed 190 kDa form also functions as an endocytosis receptor for heparin internalisation as well as HA and CS. Proteolytically processed to yield a 190 kDa protein.;Glycosylated. NA Hyaluronan uptake and degradation;Scavenging by Class H Receptors PE1 12 +NX_Q8WWR8 Sialidase-4 484 51572 7.97 0 Membrane;Lysosome lumen NA May function in lysosomal catabolism of sialylated glycoconjugates. Has sialidase activity towards synthetic substrates, such as 2'-(4-methylumbelliferyl)-alpha-D-N-acetylneuraminic acid (4-MU-NANA or 4MU-NeuAc). Has a broad substrate specificity being active on glycoproteins, oligosaccharides and sialylated glycolipids. According to PubMed:15213228, phosphorylation of mannose residues may ensure efficient transport of isoform 2 to the lysosomes via the mannose 6-phosphate receptor.;Is glycosylated. Belongs to the glycosyl hydrolase 33 family. Other glycan degradation;Sphingolipid metabolism;Sialic acid metabolism;Glycosphingolipid metabolism PE1 2 +NX_Q8WWR9 Pancreatic progenitor cell differentiation and proliferation factor-like protein 84 9188 6.53 0 NA NA NA NA Belongs to the PPDPF family. NA PE1 8 +NX_Q8WWT9 Solute carrier family 13 member 3 602 66841 8.58 11 Cell membrane Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate High-affinity sodium-dicarboxylate cotransporter that accepts a range of substrates with 4-6 carbon atoms, including succinate, alpha-ketoglutarate and N-acetylaspartate (PubMed:30635937). The stoichiometry is probably 3 Na(+) for 1 divalent succinate. NA Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily. Sodium-coupled sulphate, di- and tri-carboxylate transporters PE1 20 +NX_Q8WWU5 T-complex protein 11 homolog 503 56141 5.08 1 Membrane;Acrosome;Flagellum NA Plays a role in the process of sperm capacitation and acrosome reactions. Probable receptor for the putative fertilization-promoting peptide (FPP) at the sperm membrane that may modulate the activity of the adenylyl cyclase cAMP pathway. Constitutively phosphorylated on serine, threonine and tyrosine residues within the head and tail regions of noncapacitated spermatozoa. Phosphorylation on tyrosine residues increases upon sperm capacitation within the acrosomal region in a protein kinase A (PKA)-dependent signaling pathway. Belongs to the TCP11 family. NA PE1 6 +NX_Q8WWU7 Intelectin-2 325 36212 8.61 0 Secreted NA May play a role in the defense system against pathogens. NA NA NA PE1 1 +NX_Q8WWV3 Reticulon-4-interacting protein 1, mitochondrial 396 43590 9.22 0 Mitochondrion outer membrane Optic atrophy 10 with or without ataxia, mental retardation, and seizures Plays a role in the regulation of retinal ganglion cell (RGC) neurite outgrowth, and hence in the development of the inner retina and optic nerve. Appears to be a potent inhibitor of regeneration following spinal cord injury. NA Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily. NA PE1 6 +NX_Q8WWV6 High affinity immunoglobulin alpha and immunoglobulin mu Fc receptor 532 57144 9.37 1 Cell membrane NA Functions as a receptor for the Fc fragment of IgA and IgM. Binds IgA and IgM with high affinity and mediates their endocytosis. May function in the immune response to microbes mediated by IgA and IgM. N-glycosylated. NA Cell surface interactions at the vascular wall PE1 1 +NX_Q8WWW0 Ras association domain-containing protein 5 418 47090 9.31 0 Cytoplasm;Cytoskeleton NA Stimulates lymphocyte polarization and the patch-like distribution of ITGAL/LFA-1, resulting in an enhanced adhesion to ICAM1. Together with RAP1A may participate in regulation of microtubule growth. The association of isoform 2 with activated RAP1A is required for directional movement of endothelial cells during wound healing. May be involved in regulation of Ras apoptotic function. The RASSF5-STK4/MST1 complex may mediate HRAS and KRAS induced apoptosis.;Potential tumor suppressor. Seems to be involved in lymphocyte adhesion by linking RAP1A activation upon T-cell receptor or chemokine stimulation to integrin activation. RASSF5 is phosphorylated by LCK NA Leukocyte transendothelial migration;Pathways in cancer;Non-small cell lung cancer PE1 1 +NX_Q8WWW8 GRB2-associated-binding protein 3 586 65589 6.8 0 NA NA NA Phosphorylated on tyrosine residue(s) after macrophage colony-stimulating factor (M-CSF) receptor stimulation. Belongs to the GAB family. NA PE1 X +NX_Q8WWX0 Ankyrin repeat and SOCS box protein 5 329 36341 6.34 0 Cell membrane NA May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. May play a role in the initiation of arteriogenesis (By similarity). NA Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 4 +NX_Q8WWX8 Sodium/myo-inositol cotransporter 2 675 74036 6.33 14 Membrane;Nucleoplasm;Cytosol NA Involved in the sodium-dependent cotransport of myo-inositol (MI) with a Na(+):MI stoichiometry of 2:1. Exclusively responsible for apical MI transport and absorption in intestine. Also can transport D-chiro-inositol (DCI) but not L-fructose. Exhibits stereospecific cotransport of both D-glucose and D-xylose. May induce apoptosis through the TNF-alpha, PDCD1 pathway. May play a role in the regulation of MI concentration in serum, involving reabsorption in at least the proximal tubule of the kidney. NA Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. Inositol transporters PE1 16 +NX_Q8WWX9 Selenoprotein M 145 16232 5.39 0 Golgi apparatus;Cytoplasm;Endoplasmic reticulum;Nucleoplasm;Cytosol;Perinuclear region;Nucleus NA May function as a thiol-disulfide oxidoreductase that participates in disulfide bond formation. NA Belongs to the selenoprotein M/F family. NA PE1 22 +NX_Q8WWY3 U4/U6 small nuclear ribonucleoprotein Prp31 499 55456 5.63 0 Cajal body;Nucleoplasm;Nucleus speckle;Nucleus Retinitis pigmentosa 11 Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11867543, PubMed:28781166). Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:11867543). NA Belongs to the PRP31 family. Spliceosome;mRNA Splicing - Major Pathway PE1 19 +NX_Q8WWY6 Methyl-CpG-binding domain protein 3-like 1 194 21616 8.52 0 Nucleus NA Transcriptional repressor. NA Belongs to the MBD3L family. NA PE1 19 +NX_Q8WWY7 WAP four-disulfide core domain protein 12 111 12050 5.35 0 Secreted NA Antibacterial protein. Putative acid-stable proteinase inhibitor. NA NA NA PE1 20 +NX_Q8WWY8 Lipase member H 451 50859 7.15 0 Membrane;Secreted Woolly hair autosomal recessive 2;Hypotrichosis 7 Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG). NA Belongs to the AB hydrolase superfamily. Lipase family. Synthesis of PA PE1 3 +NX_Q8WWZ1 Interleukin-1 family member 10 152 16943 4.94 0 Secreted NA Cytokine with immunomodulatory activity. Alone, does not induce cytokine production, but reduces IL22 and IL17A production by T-cells in response to heat-killed Candida albicans. Reduces IL36G-induced production of IL8 by peripheral blood mononuclear cells. Increases IL6 production by dendritic cells stimulated by bacterial lipopolysaccharides (LPS). Ligand for IL-36R/IL1RL2. NA Belongs to the IL-1 family. Interleukin-36 pathway;Interleukin-38 signaling PE1 2 +NX_Q8WWZ3 Ectodysplasin-A receptor-associated adapter protein 215 24802 5.23 0 Nucleoplasm;Cytosol;Cytoplasm Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B. NA NA TNFs bind their physiological receptors PE1 1 +NX_Q8WWZ4 ATP-binding cassette sub-family A member 10 1543 175790 6.22 15 Membrane NA Probable transporter which may play a role in macrophage lipid homeostasis. NA Belongs to the ABC transporter superfamily. ABCA family. ABC transporters;ABC transporters in lipid homeostasis PE2 17 +NX_Q8WWZ7 ATP-binding cassette sub-family A member 5 1642 186508 6.51 15 Nucleoplasm;Lysosome membrane;Late endosome membrane;Golgi apparatus membrane NA May play a role in the processing of autolysosomes. N-glycosylated. Belongs to the ABC transporter superfamily. ABCA family. ABC transporters;ABC transporters in lipid homeostasis PE1 17 +NX_Q8WWZ8 Oncoprotein-induced transcript 3 protein 545 60022 5.34 0 Nucleus envelope NA May be involved in hepatocellular function and development. NA NA NA PE1 10 +NX_Q8WX39 Epididymal-specific lipocalin-9 176 20285 5.72 0 Secreted NA NA NA Belongs to the calycin superfamily. Lipocalin family. Transport of fatty acids PE2 9 +NX_Q8WX77 Insulin-like growth factor-binding protein-like 1 278 29005 8.29 0 Cytoplasmic vesicle;Nucleoplasm;Secreted NA IGF-binding proteins prolong the half-life of IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs in cell culture. They alter the interaction of IGFs with their cell surface receptors (By similarity). May be a putative tumor suppressor protein. NA NA NA PE1 9 +NX_Q8WX92 Negative elongation factor B 580 65697 5.77 0 Nucleoplasm;Nucleus NA (Microbial infection) The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II (PubMed:23884411). In vitro, binds weakly to the HIV-1 TAR RNA which is located in the long terminal repeat (LTR) of HIV-1 (PubMed:23884411).;Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II (PubMed:12612062). The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex (PubMed:10199401). May be able to induce chromatin unfolding (PubMed:11739404). Essential for early embryogenesis; plays an important role in maintaining the undifferentiated state of embryonic stem cells (ESCs) by preventing unscheduled expression of developmental genes (By similarity). Plays a key role in establishing the responsiveness of stem cells to developmental cues; facilitates plasticity and cell fate commitment in ESCs by establishing the appropriate expression level of signaling molecules (By similarity). Supports the transcription of genes involved in energy metabolism in cardiomyocytes; facilitates the association of transcription initiation factors with the promoters of the metabolism-related genes (By similarity). NA Belongs to the NELF-B family. Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;TP53 Regulates Transcription of DNA Repair Genes;NTRK3 as a dependence receptor PE1 9 +NX_Q8WX93 Palladin 1383 150564 6.67 0 Axon;Cell membrane;Growth cone;Podosome;Focal adhesion;Lamellipodium;Ruffle;Cytosol;Z line;Cytoskeleton Pancreatic cancer 1 Cytoskeletal protein required for organization of normal actin cytoskeleton. Roles in establishing cell morphology, motility, cell adhesion and cell-extracellular matrix interactions in a variety of cell types. May function as a scaffolding molecule with the potential to influence both actin polymerization and the assembly of existing actin filaments into higher-order arrays. Binds to proteins that bind to either monomeric or filamentous actin. Localizes at sites where active actin remodeling takes place, such as lamellipodia and membrane ruffles. Different isoforms may have functional differences. Involved in the control of morphological and cytoskeletal changes associated with dendritic cell maturation. Involved in targeting ACTN to specific subcellular foci. Phosphorylated predominantly on serines and, to a lesser extent, on tyrosines (By similarity). Phosphorylation at Ser-1118 by PKB/AKT1 modulates cytoskeletal organization and cell motility. Belongs to the myotilin/palladin family. NA PE1 4 +NX_Q8WX94 NACHT, LRR and PYD domains-containing protein 7 980 111807 5.87 0 Golgi apparatus Hydatidiform mole, recurrent, 1 Inhibits CASP1/caspase-1-dependent IL1B secretion. NA Belongs to the NLRP family. NA PE1 19 +NX_Q8WXA2 Prostate and testis expressed protein 1 126 14271 8.28 0 Secreted NA NA NA Belongs to the PATE family. NA PE1 11 +NX_Q8WXA3 RUN and FYVE domain-containing protein 2 606 70010 5.61 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 10 +NX_Q8WXA8 5-hydroxytryptamine receptor 3C 447 50220 5.59 4 Cell membrane NA This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3C sub-subfamily. Neurotransmitter receptors and postsynaptic signal transmission PE1 3 +NX_Q8WXA9 Splicing regulatory glutamine/lysine-rich protein 1 508 59380 10.39 0 Nucleoplasm;Nucleus speckle;Nucleus NA Participates in the regulation of alternative splicing by modulating the activity of other splice facors. Inhibits the splicing activity of SFRS1, SFRS2 and SFRS6. Augments the splicing activity of SFRS3 (By similarity). NA Belongs to the splicing factor SR family. NA PE1 5 +NX_Q8WXB1 Protein N-lysine methyltransferase METTL21A 218 24600 5.84 0 Nucleoplasm;Cytosol;Cytoplasm NA Protein-lysine methyltransferase that selectively trimethylates residues in heat shock protein 70 (HSP70) family members. Contributes to the in vivo trimethylation of Lys residues in HSPA1 and HSPA8. In vitro methylates 'Lys-561' in HSPA1, 'Lys-564' in HSPA2, 'Lys-585' in HSPA5, 'Lys-563' in HSPA6 and 'Lys-561' in HSPA8. NA Belongs to the methyltransferase superfamily. METTL21 family. Protein methylation PE1 2 +NX_Q8WXB4 Zinc finger protein 606 792 91812 8.16 0 Nucleoplasm;Nucleus NA May act as a transcriptional repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q8WXC3 Pyrin domain-containing protein 1 89 10107 6.3 0 Cytoplasm NA Associates with PYCARD/ASC and modulates its ability to collaborate with MEFV/pyrin and NLRP3/cryopyrin in NF-kappa-B and pro-caspase-1 activation. Suppresses kinase activity of NF-kappa-B inhibitor kinase (IKK) complex, expression of NF-kappa-B inducible genes and inhibits NF-kappa-B activation by cytokines and LPS. Phosphorylated. NA NOD-like receptor signaling pathway PE1 16 +NX_Q8WXC6 COP9 signalosome complex subunit 9 57 6211 3.6 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Plays a role in cell proliferation.;Negatively regulates neddylation of proteins, including ribosoaml protein RPL11. NA Belongs to the CSN9 family. NA PE1 2 +NX_Q8WXD0 Relaxin receptor 2 754 86453 9.04 7 Cell membrane Cryptorchidism Receptor for relaxin. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. May also be a receptor for Leydig insulin-like peptide (INSL3). NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Relaxin receptors;G alpha (s) signalling events PE1 13 +NX_Q8WXD2 Secretogranin-3 468 53005 4.94 0 Cytoplasmic vesicle;Secretory vesicle membrane;Secreted;Secretory vesicle NA Member of the granin protein family that regulates the biogenesis of secretory granules (PubMed:19357184). Acts as a sorting receptor for intragranular proteins including chromogranin A/CHGA (By similarity). May also play a role in angiogenesis. Promotes endothelial proliferation, migration and tube formation through MEK/ERK signaling pathway (PubMed:29154827). O-glycosylated. NA Platelet degranulation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 15 +NX_Q8WXD5 Gem-associated protein 6 167 18824 5.02 0 Nucleoplasm;Cytoplasm;Gem;Nucleus NA The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. NA NA RNA transport;snRNP Assembly PE1 2 +NX_Q8WXD9 Caskin-1 1431 149814 9.21 0 Nucleoplasm;Cytosol;Cytoplasm NA May link the scaffolding protein CASK to downstream intracellular effectors. NA NA NA PE1 16 +NX_Q8WXE0 Caskin-2 1202 126783 6.63 0 Cytoplasm;Cell membrane NA NA NA NA NA PE1 17 +NX_Q8WXE1 ATR-interacting protein 791 85838 5.9 0 Nucleoplasm;Nucleus NA Required for checkpoint signaling after DNA damage. Required for ATR expression, possibly by stabilizing the protein. Phosphorylated by ATR. Belongs to the ATRIP family. Fanconi anemia pathway;Activation of ATR in response to replication stress;G2/M DNA damage checkpoint;HDR through Single Strand Annealing (SSA);Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Fanconi Anemia Pathway;Regulation of TP53 Activity through Phosphorylation PE1 3 +NX_Q8WXE9 Stonin-2 905 101165 5.2 0 Cytoplasm;Synaptosome;Nucleolus;Membrane;Cytosol NA Adapter protein involved in endocytic machinery. Involved in the synaptic vesicle recycling. May facilitate clathrin-coated vesicle uncoating. Neddylated; deneddylated via its interaction with the COP9 signalosome (CSN) complex through TOR1A and COPS4.;Phosphorylated in vitro by PKD.;Ubiquitinated; leading to its degradation. Belongs to the Stoned B family. Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 14 +NX_Q8WXF0 Serine/arginine-rich splicing factor 12 261 30512 11.69 0 Nucleus NA Splicing factor that seems to antagonize SR proteins in pre-mRNA splicing regulation. NA Belongs to the splicing factor SR family. NA PE1 6 +NX_Q8WXF1 Paraspeckle component 1 523 58744 6.26 0 Cytoplasm;Nucleus speckle;Nucleus matrix;Nucleolus;Nucleoplasm;Nucleus NA Regulates, cooperatively with NONO and SFPQ, androgen receptor-mediated gene transcription activity in Sertoli cell line (By similarity). Binds to poly(A), poly(G) and poly(U) RNA homopolymers. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer (By similarity). Together with NONO, required for the formation of nuclear paraspeckles. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway. NA Belongs to the PSPC family. NA PE1 13 +NX_Q8WXF3 Relaxin-3 142 15451 5.41 0 Secreted NA May play a role in neuropeptide signaling processes. Ligand for LGR7, relaxin-3 receptor-1 (GPCR135) and relaxin-3 receptor-2 (GPCR142). NA Belongs to the insulin family. G alpha (i) signalling events;Relaxin receptors;G alpha (s) signalling events PE1 19 +NX_Q8WXF5 Gamma-crystallin N 182 20624 5.4 0 NA NA NA NA Belongs to the beta/gamma-crystallin family. NA PE2 7 +NX_Q8WXF7 Atlastin-1 558 63544 5.82 2 Axon;Endoplasmic reticulum membrane;Golgi apparatus membrane Spastic paraplegia 3, autosomal dominant;Neuropathy, hereditary sensory, 1D GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis (PubMed:27619977). May also regulate Golgi biogenesis. May regulate axonal development. NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily. NA PE1 14 +NX_Q8WXF8 DNA-binding death effector domain-containing protein 2 326 36179 9.23 0 Nucleoplasm;Nucleolus NA May play a critical role in death receptor-induced apoptosis and may target CASP8 and CASP10 to the nucleus. May regulate degradation of intermediate filaments during apoptosis. May play a role in the general transcription machinery in the nucleus and might be an important regulator of the activity of GTF3C3. NA NA NA PE1 19 +NX_Q8WXG1 Radical S-adenosyl methionine domain-containing protein 2 361 42170 8.53 0 Mitochondrion outer membrane;Golgi apparatus;Endoplasmic reticulum membrane;Mitochondrion;Lipid droplet;Nucleolus;Endoplasmic reticulum;Mitochondrion inner membrane NA Interferon-inducible iron-sulfur (4FE-4S) cluster-binding antiviral protein which plays a major role in the cell antiviral state induced by type I and type II interferon. Can inhibit a wide range of DNA and RNA viruses, including human cytomegalovirus (HCMV), hepatitis C virus (HCV), west Nile virus (WNV), dengue virus, sindbis virus, influenza A virus, sendai virus, vesicular stomatitis virus (VSV), and human immunodeficiency virus (HIV-1). Displays antiviral activity against influenza A virus by inhibiting the budding of the virus from the plasma membrane by disturbing the lipid rafts. This is accomplished, at least in part, through binding and inhibition of the enzyme farnesyl diphosphate synthase (FPPS), which is essential for the biosynthesis of isoprenoid-derived lipids. Promotes TLR7 and TLR9-dependent production of IFN-beta production in plasmacytoid dendritic cells (pDCs) by facilitating Lys-63'-linked ubiquitination of IRAK1. Plays a role in CD4+ T-cells activation and differentiation. Facilitates T-cell receptor (TCR)-mediated GATA3 activation and optimal T-helper 2 (Th2) cytokine production by modulating NFKB1 and JUNB activities. Can inhibit secretion of soluble proteins. NA Belongs to the radical SAM superfamily. RSAD2 family. Influenza A;Interferon alpha/beta signaling PE1 2 +NX_Q8WXG6 MAP kinase-activating death domain protein 1647 183303 5.72 0 Membrane;Cytoplasm;Cytosol;Cell membrane NA Shows increased cell proliferation and isoform 2 shows decreased. Converts GDP-bound inactive form of RAB3A, RAB3C and RAB3D to the GTP-bound active forms. Component of the TNFRSF1A signaling complex: MADD links TNFRSF1A with MAP kinase activation. Plays an important regulatory role in physiological cell death (TNF-alpha-induced, caspase-mediated apoptosis); isoform 1 is susceptible to inducing apoptosis, isoform 5 is resistant and isoform 3 and isoform 4 have no effect.;Plays a significant role in regulating cell proliferation, survival and death through alternative mRNA splicing. MADD is phosphorylated by MAPK10 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the MADD family. Regulation of TNFR1 signaling;RAB GEFs exchange GTP for GDP on RABs PE1 11 +NX_Q8WXG8 Protein S100-Z 99 11620 7.73 0 NA NA NA NA Belongs to the S-100 family. NA PE1 5 +NX_Q8WXG9 Adhesion G-protein coupled receptor V1 6306 693069 4.53 7 Photoreceptor inner segment;Stereocilium membrane;Cell membrane;Lipid droplet Febrile seizures, familial, 4;Usher syndrome 2C Cleaved ADGRV1 beta-subunit couples with G-alpha(i)-proteins, GNAI1/2/3, and constitutively inhibits adenylate cyclase (AC) activity with a stronger effect than full ADGRV1.;G-protein coupled receptor which has an essential role in the development of hearing and vision. Couples to G-alpha(i)-proteins, GNAI1/2/3, G-alpha(q)-proteins, GNAQ, as well as G-alpha(s)-proteins, GNAS, inhibiting adenylate cyclase (AC) activity and cAMP production. Required for the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells of the inner ear. In response to extracellular calcium, activates kinases PKA and PKC to regulate myelination by inhibiting the ubiquitination of MAG, thus enhancing the stability of this protein in myelin-forming cells of the auditory pathway. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. Involved in the regulation of bone metabolism. Autoproteolytically cleaved into 2 subunits, an extracellular alpha subunit and a seven-transmembrane subunit. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE1 5 +NX_Q8WXH0 Nesprin-2 6885 796442 5.26 1 Nucleus outer membrane;Mitochondrion;Cell membrane;Focal adhesion;Nucleus membrane;Nucleoplasm;Sarcoplasmic reticulum membrane;Z line;Cytoskeleton Emery-Dreifuss muscular dystrophy 5, autosomal dominant Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow during actin-dependent nuclear movement. May be involved in nucleus-centrosome attachment. During interkinetic nuclear migration (INM) at G2 phase and nuclear migration in neural progenitors its LINC complex association with SUN1/2 and probable association with cytoplasmic dynein-dynactin motor complexes functions to pull the nucleus toward the centrosome; SYNE1 and SYNE2 may act redundantly. During INM at G1 phase mediates respective LINC complex association with kinesin to push the nucleus away from the centrosome. Involved in nuclear migration in retinal photoreceptor progenitors. Required for centrosome migration to the apical cell surface during early ciliogenesis. The disulfid bond with SUN2 is required for stability of the SUN2:SYNE2/KASH2 LINC complex under tensile forces though not required for the interaction. Belongs to the nesprin family. Meiotic synapsis PE1 14 +NX_Q8WXH2 Junctophilin-3 748 81469 9.43 1 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Cell membrane Huntington disease-like 2 Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory. NA Belongs to the junctophilin family. NA PE1 16 +NX_Q8WXH4 Ankyrin repeat and SOCS box protein 11 323 35367 8.39 0 NA NA May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 X +NX_Q8WXH5 Suppressor of cytokine signaling 4 440 50623 6.63 0 Nucleoplasm;Cytosol NA SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. Substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Inhibits EGF signaling by mediating the degradation of the Tyr-phosphorylated EGF receptor/EGFR. NA NA Protein modification; protein ubiquitination.;Jak-STAT signaling pathway;Insulin signaling pathway;Type II diabetes mellitus;RUNX1 regulates transcription of genes involved in differentiation of keratinocytes PE1 14 +NX_Q8WXH6 Ras-related protein Rab-40A 277 31076 9.45 0 Cell membrane NA May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the small GTPase superfamily. Rab family. Protein modification; protein ubiquitination.;RAB geranylgeranylation PE2 X +NX_Q8WXI2 Connector enhancer of kinase suppressor of ras 2 1034 117535 6.34 0 Membrane;Cytoplasm;Golgi apparatus;Cell membrane Mental retardation, X-linked, syndromic, Houge type May function as an adapter protein or regulator of Ras signaling pathways. Phosphorylated on tyrosine. Belongs to the CNKSR family. MAP2K and MAPK activation;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 X +NX_Q8WXI3 Ankyrin repeat and SOCS box protein 10 467 50894 6.55 0 Cytoplasm;Nucleus Glaucoma 1, open angle, F May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 7 +NX_Q8WXI4 Acyl-coenzyme A thioesterase 11 607 68492 8.66 0 Cytoplasm;Mitochondrion matrix;Cytosol NA Has an acyl-CoA thioesterase activity with a preference for the long chain fatty acyl-CoA thioesters hexadecanoyl-CoA/palmitoyl-CoA and tetradecanoyl-CoA/myristoyl-CoA which are the main substrates in the mitochondrial beta-oxidation pathway. NA NA Lipid metabolism; fatty acid metabolism.;Mitochondrial Fatty Acid Beta-Oxidation PE1 1 +NX_Q8WXI7 Mucin-16 14507 1519175 5.13 1 Extracellular space;Cell membrane NA Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. Heavily O-glycosylated; expresses both type 1 and type 2 core glycans.;Heavily N-glycosylated; expresses primarily high mannose and complex bisecting type N-linked glycans.;May contain numerous disulfide bridges. Association of several molecules of the secreted form may occur through interchain disulfide bridges providing an extraordinarily large gel-like matrix in the extracellular space or in the lumen of secretory ducts.;May be phosphorylated. Phosphorylation of the intracellular C-terminal domain may induce proteolytic cleavage and the liberation of the extracellular domain into the extracellular space. NA O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1) PE1 19 +NX_Q8WXI8 C-type lectin domain family 4 member D 215 24704 8.28 1 Membrane NA A calcium-dependent lectin involved in innate recognition of pathogen-associated molecular patterns (PAMPs). Interacts with signaling adapter Fc receptor gamma chain/FCER1G, likely via CLEC4E, to form a functional complex in myeloid cells (By similarity). Binding of mycobacterial trehalose 6,6'-dimycolate (TDM) to this receptor complex leads to phosphorylation of the immunoreceptor tyrosine-based activation motif (ITAM) of FCER1G, triggering activation of SYK, CARD9 and NF-kappa-B, consequently driving maturation of antigen-presenting cells and shaping antigen-specific priming of T-cells toward effector T-helper 1 and T-helper 17 cell subtypes (PubMed:23602766). Functions as an endocytic receptor. May be involved in antigen uptake at the site of infection, either for clearance of the antigen, or for processing and further presentation to T cells (PubMed:14971047). NA NA Dectin-2 family;Neutrophil degranulation PE1 12 +NX_Q8WXI9 Transcriptional repressor p66-beta 593 65261 9.73 0 Nucleoplasm;Nucleus speckle Mental retardation, autosomal dominant 18 Transcriptional repressor. Enhances MBD2-mediated repression. Efficient repression requires the presence of GATAD2A. Targets MBD3 to discrete loci in the nucleus. May play a role in synapse development. NA NA RNA Polymerase I Transcription Initiation;HDACs deacetylate histones;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Regulation of TP53 Activity through Acetylation;Regulation of PTEN gene transcription PE1 1 +NX_Q8WXJ9 Ankyrin repeat and SOCS box protein 17 295 34282 9.05 0 NA NA May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 1 +NX_Q8WXK1 Ankyrin repeat and SOCS box protein 15 588 65799 5.51 0 NA NA May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE2 7 +NX_Q8WXK3 Ankyrin repeat and SOCS box protein 13 278 30007 6.36 0 Golgi apparatus;Nucleoplasm NA May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 10 +NX_Q8WXK4 Ankyrin repeat and SOCS box protein 12 309 33943 5.53 0 NA NA Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 X +NX_Q8WXQ3 Putative uncharacterized protein encoded by LINC01599 324 35482 5.84 0 NA NA NA NA NA NA PE2 14 +NX_Q8WXQ8 Carboxypeptidase A5 436 49036 6.24 0 Nucleoplasm;Secreted NA NA NA Belongs to the peptidase M14 family. NA PE1 7 +NX_Q8WXR4 Myosin-IIIb 1341 151829 8.4 0 Stereocilium;Cytoskeleton NA Probable actin-based motor with a protein kinase activity. Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments. NA In the N-terminal section; belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family.;In the C-terminal section; belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. NA PE1 2 +NX_Q8WXS3 Brain and acute leukemia cytoplasmic protein 180 19224 5.47 0 Cytoplasm;Synaptosome;Nucleoplasm;Postsynaptic density;Cytosol;Membrane raft NA May play a synaptic role at the postsynaptic lipid rafts possibly through interaction with CAMK2A. Palmitoylation and myristoylation target the protein to the lipid rafts. NA NA PE1 8 +NX_Q8WXS4 Voltage-dependent calcium channel gamma-like subunit 190 20932 7.65 4 Membrane;Nucleoplasm;Cytosol;Nucleolus NA Thought to stabilize the calcium channel in an inactivated (closed) state. Modulates calcium current when coexpressed with CACNA1G (By similarity). NA Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. NA PE1 2 +NX_Q8WXS5 Voltage-dependent calcium channel gamma-8 subunit 425 43313 9.34 5 Postsynaptic density;Cell membrane NA Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (By similarity). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. NA Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. MAPK signaling pathway;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Trafficking of AMPA receptors;LGI-ADAM interactions;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 19 +NX_Q8WXS8 A disintegrin and metalloproteinase with thrombospondin motifs 14 1223 133888 6.81 0 Extracellular matrix NA Has aminoprocollagen type I processing activity in the absence of ADAMTS2 (PubMed:11741898). Seems to be synthesized as a latent enzyme that requires activation to display aminoprocollagen peptidase activity (PubMed:11741898). Cleaves lysyl oxidase LOX at a site downstream of its propeptide cleavage site to produce a short LOX form (PubMed:31152061). The precursor is cleaved by a furin endopeptidase.;Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity). NA O-glycosylation of TSR domain-containing proteins;Collagen biosynthesis and modifying enzymes;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 10 +NX_Q8WXT5 Forkhead box protein D4-like 4 416 45892 9.74 0 Nucleus NA NA NA NA NA PE2 9 +NX_Q8WXU2 Dynein assembly factor 4, axonemal 420 48527 8.88 0 Cytoplasm;Cytosol;Nucleus;Cell membrane Dyslexia 1;Ciliary dyskinesia, primary, 25 Axonemal dynein assembly factor required for ciliary motility. Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity. NA NA NA PE1 15 +NX_Q8WXW3 Progesterone-induced-blocking factor 1 757 89805 5.78 0 Cytoplasm;Centriolar satellite;Secreted;Centrosome;Nucleus Joubert syndrome 33 Plays a role in ciliogenesis.;Pericentriolar protein required to maintain mitotic spindle pole integrity (PubMed:21224392). Required for the centrosomal accumulation of PCM1 and the recruitment of centriolar satellite proteins such as BBS4. Via association with PCM1 may be involved in primary cilia formation (PubMed:23110211). Required for CEP63 centrosomal localization and its interaction with WDR62. Together with CEP63 promotes centriole duplication. Promotes the centrosomal localization of CDK2 (PubMed:26297806).;The secreted form is a mediator of progesterone that by acting on the phospholipase A2 enzyme interferes with arachidonic acid metabolism, induces a Th2 biased immune response, and by controlling decidual naturakl killer cells (NK) activity exerts an anti-abortive effect (PubMed:14634107, PubMed:3863495, PubMed:12516630). Increases the production of Th2-type cytokines by signaling via the JAK/STAT pathway. Activates STAT6 and inhibits STAT4 phosphorylation. Signaling via a not identified receptor seems to implicate IL4R and a GPI-anchored protein (PubMed:16393965, PubMed:25218441). NA NA NA PE1 13 +NX_Q8WXX0 Dynein heavy chain 7, axonemal 4024 461159 5.7 0 Cytosol;Cilium axoneme NA Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (By similarity). NA Belongs to the dynein heavy chain family. NA PE1 2 +NX_Q8WXX5 DnaJ homolog subfamily C member 9 260 29910 5.58 0 Cytoplasm;Nucleoplasm;Nucleus;Cell membrane NA May play a role as co-chaperone of the Hsp70 family proteins HSPA1A, HSPA1B and HSPA8. NA NA NA PE1 10 +NX_Q8WXX7 Autism susceptibility gene 2 protein 1259 138982 9.41 0 Growth cone;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton Mental retardation, autosomal dominant 26 Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:25519132). The PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 has decreased histone H2A ubiquitination activity, due to the phosphorylation of RNF2 by CSNK2B (PubMed:25519132). As a consequence, the complex mediates transcriptional activation (PubMed:25519132). In the cytoplasm, plays a role in axon and dendrite elongation and in neuronal migration during embryonic brain development. Promotes reorganization of the actin cytoskeleton, lamellipodia formation and neurite elongation via its interaction with RAC guanine nucleotide exchange factors, which then leads to the activation of RAC1 (By similarity). NA Belongs to the AUTS2 family. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 7 +NX_Q8WY07 Cationic amino acid transporter 3 619 67169 5.82 14 Cell membrane NA Mediates the uptake of the cationic amino acids arginine, lysine and ornithine in a sodium-independent manner. N-glycosylated. Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family. Amino acid transport across the plasma membrane PE1 X +NX_Q8WY21 VPS10 domain-containing receptor SorCS1 1168 129635 7.38 1 Membrane;Cytosol;Cell membrane NA NA O-glycosylated. Belongs to the VPS10-related sortilin family. SORCS subfamily. NA PE1 10 +NX_Q8WY22 BRI3-binding protein 251 27836 9.48 4 Mitochondrion outer membrane;Nucleoplasm;Mitochondrion NA Involved in tumorigenesis and may function by stabilizing p53/TP53. NA NA NA PE1 12 +NX_Q8WY36 HMG box transcription factor BBX 941 105130 8.96 0 Nucleoplasm;Cytosol;Nucleus NA Transcription factor that is necessary for cell cycle progression from G1 to S phase. NA NA NA PE1 3 +NX_Q8WY41 Nanos homolog 1 292 30230 8.29 0 Nucleoplasm;Cytoplasm;Cytosol;Perinuclear region Spermatogenic failure 12 May act as a translational repressor which regulates translation of specific mRNAs by forming a complex with PUM2 that associates with the 3'-UTR of mRNA targets. Capable of interfering with the proadhesive and anti-invasive functions of E-cadherin. Up-regulates the production of MMP14 to promote tumor cell invasion. NA Belongs to the nanos family. NA PE1 10 +NX_Q8WY50 Placenta-specific protein 4 150 16680 7.02 0 NA NA NA NA NA NA PE2 21 +NX_Q8WY54 Protein phosphatase 1E 755 83952 4.93 0 Nucleoplasm;Nucleolus;Cytoplasm;Nucleus NA Protein phosphatase that inactivates multifunctional CaM kinases such as CAMK4 and CAMK2 (By similarity). Dephosphorylates and inactivates PAK. May play a role in the inhibition of actin fiber stress breakdown and in morphological changes driven by TNK2/CDC42. Dephosphorylates PRKAA2 (By similarity). NA Belongs to the PP2C family. Negative regulation of NMDA receptor-mediated neuronal transmission PE1 17 +NX_Q8WY64 E3 ubiquitin-protein ligase MYLIP 445 49910 6.9 0 Cytoplasm;Cell membrane NA E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of myosin regulatory light chain (MRLC), LDLR, VLDLR and LRP8. Activity depends on E2 enzymes of the UBE2D family. Proteasomal degradation of MRLC leads to inhibit neurite outgrowth in presence of NGF by counteracting the stabilization of MRLC by saposin-like protein (CNPY2/MSAP) and reducing CNPY2-stimulated neurite outgrowth. Acts as a sterol-dependent inhibitor of cellular cholesterol uptake by mediating ubiquitination and subsequent degradation of LDLR. Autoubiquitinated. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;VLDLR internalisation and degradation PE1 6 +NX_Q8WY91 THAP domain-containing protein 4 577 62890 9.39 0 Nucleoplasm;Nucleus speckle NA NA NA NA NA PE1 2 +NX_Q8WY98 Transmembrane protein 234 164 17601 8.76 3 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the TMEM234 family. NA PE1 1 +NX_Q8WYA0 Intraflagellar transport protein 81 homolog 676 79746 8.9 0 Cytosol;Centrosome;Cilium Short-rib thoracic dysplasia 19 with or without polydactyly Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds tubulin via its CH (calponin-homology)-like region (PubMed:23990561). Required for ciliogenesis (PubMed:27666822, PubMed:23990561). Required for proper regulation of SHH signaling (PubMed:27666822). NA Belongs to the IFT81 family. Intraflagellar transport PE1 12 +NX_Q8WYA1 Aryl hydrocarbon receptor nuclear translocator-like protein 2 636 70887 7.01 0 Nucleoplasm;Nucleolus;Nucleus NA Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. The CLOCK-ARNTL2/BMAL2 heterodimer activates the transcription of SERPINE1/PAI1 and BHLHE40/DEC1. NA NA BMAL1:CLOCK,NPAS2 activates circadian gene expression PE1 12 +NX_Q8WYA6 Beta-catenin-like protein 1 563 65173 4.96 0 Cytoplasm;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. Participates in AID/AICDA-mediated Ig class switching recombination (CSR). May induce apoptosis. NA NA Spliceosome;mRNA Splicing - Major Pathway PE1 20 +NX_Q8WYB5 Histone acetyltransferase KAT6B 2073 231378 5.68 0 Nucleoplasm;Nucleus Genitopatellar syndrome;Ohdo syndrome, SBBYS variant Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. Autoacetylated (PubMed:10497217 and PubMed:11965546). Autoacetylation at Lys-815 is required for proper function. Belongs to the MYST (SAS/MOZ) family. HATs acetylate histones PE1 10 +NX_Q8WYH8 Inhibitor of growth protein 5 240 27751 7.53 0 Nucleus NA Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. Through chromatin acetylation it may regulate DNA replication and may function as a transcriptional coactivator (PubMed:12750254, PubMed:16387653). Inhibits cell growth, induces a delay in S-phase progression and enhances Fas-induced apoptosis in an INCA1-dependent manner (PubMed:21750715). NA Belongs to the ING family. HATs acetylate histones;Regulation of TP53 Activity through Acetylation PE1 2 +NX_Q8WYJ6 Septin-1 367 41971 5.56 0 Cytoplasm;Centrosome;Midbody;Cytoskeleton NA Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. Bacterial invasion of epithelial cells PE1 16 +NX_Q8WYK0 Acetyl-coenzyme A thioesterase 555 62034 6.3 0 Nucleoplasm;Cytosol NA Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH (PubMed:16951743). Acyl-coenzyme A thioesterase 12/ACOT12 preferentially hydrolyzes acetyl-CoA (PubMed:16951743). NA NA Lipid metabolism; fatty acid metabolism.;Pyruvate metabolism;Mitochondrial Fatty Acid Beta-Oxidation PE1 5 +NX_Q8WYK1 Contactin-associated protein-like 5 1306 145623 5.86 1 Membrane;Nucleoplasm;Nucleolus;Cytoplasmic vesicle NA May play a role in the correct development and proper functioning of the peripheral and central nervous system and be involved in cell adhesion and intercellular communication. NA Belongs to the neurexin family. NA PE1 2 +NX_Q8WYK2 Jun dimerization protein 2 163 18704 9.3 0 Nucleoplasm;Nucleus speckle;Nucleus NA Component of the AP-1 transcription factor that represses transactivation mediated by the Jun family of proteins. Involved in a variety of transcriptional responses associated with AP-1 such as UV-induced apoptosis, cell differentiation, tumorigenesis and antitumogeneris. Can also function as a repressor by recruiting histone deacetylase 3/HDAC3 to the promoter region of JUN. May control transcription via direct regulation of the modification of histones and the assembly of chromatin. Phosphorylation of Thr-148 by MAPK8 in response to different stress conditions such as, UV irradiation, oxidatives stress and anisomycin treatments.;Polyubiquitinated; probably by IRF2BP1. Belongs to the bZIP family. ATF subfamily. NA PE1 14 +NX_Q8WYL5 Protein phosphatase Slingshot homolog 1 1049 115511 5.87 0 Cleavage furrow;Cell membrane;Nucleoplasm;Lamellipodium;Cytosol;Midbody;Cytoskeleton NA Protein phosphatase which regulates actin filament dynamics. Dephosphorylates and activates the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Inhibitory phosphorylation of cofilin is mediated by LIMK1, which may also be dephosphorylated and inactivated by this protein. Phosphorylated. Inhibitory phosphorylation by PAK4 promotes binding to YWHAZ. Phosphorylation at Ser-978 is decreased by stimuli which promote actin reorganization and lamellipodia formation. Can be dephosphorylated and activated by PPP3CA/calcineurin A. Phosphorylation decreases immediately prior to telophase.;SSH1 is phosphorylated by PAK4 (Phosphoserine:PTM-0253) Belongs to the protein-tyrosine phosphatase family. Regulation of actin cytoskeleton PE1 12 +NX_Q8WYN0 Cysteine protease ATG4A 398 45378 4.93 0 Cytoplasm;Cytoskeleton NA Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy. Cleaves the C-terminal amino acid of ATG8 family proteins to reveal a C-terminal glycine. Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy. Preferred substrate is GABARAPL2 followed by MAP1LC3A and GABARAP. Has also an activity of delipidating enzyme for the PE-conjugated forms. NA Belongs to the peptidase C54 family. Regulation of autophagy;Macroautophagy PE1 X +NX_Q8WYN3 Cysteine/serine-rich nuclear protein 3 585 64900 4.68 0 Nucleoplasm;Nucleolus;Nucleus NA Binds to the consensus sequence 5'-AGAGTG-3' and has transcriptional activator activity. Plays a role in apoptosis (By similarity). NA Belongs to the AXUD1 family. NA PE1 2 +NX_Q8WYP3 Ras and Rab interactor 2 895 100163 6.15 0 Golgi apparatus;Cytoplasm;Cytosol;Nucleolus MACS syndrome Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP. NA Belongs to the RIN (Ras interaction/interference) family. RAB GEFs exchange GTP for GDP on RABs PE1 20 +NX_Q8WYP5 Protein ELYS 2266 252498 6.19 0 Cytoplasm;Nuclear pore complex;Nucleus matrix;Nucleus membrane;Nucleoplasm;Nucleus envelope;Nucleus;Kinetochore NA Required for the assembly of a functional nuclear pore complex (NPC) on the surface of chromosomes as nuclei form at the end of mitosis. May initiate NPC assembly by binding to chromatin and recruiting the Nup107-160 subcomplex of the NPC. Also required for the localization of the Nup107-160 subcomplex of the NPC to the kinetochore during mitosis and for the completion of cytokinesis. NA Belongs to the ELYS family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 1 +NX_Q8WYQ3 Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial 142 14149 7.73 0 Cytoplasm;Mitochondrion intermembrane space;Mitochondrion Myopathy, isolated mitochondrial, autosomal dominant;Spinal muscular atrophy, Jokela type;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure. NA NA Mitochondrial protein import PE1 22 +NX_Q8WYQ4 Uncharacterized protein C22orf15 148 16487 9.03 0 NA NA NA NA NA NA PE1 22 +NX_Q8WYQ5 Microprocessor complex subunit DGCR8 773 86045 5.68 0 Nucleolus;Nucleus NA Component of the microprocessor complex that acts as a RNA- and heme-binding protein that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA-ssRNA junction and directs DROSHA to cleave 11 bp away form the junction to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs (PubMed:26027739, PubMed:26748718). The heme-bound DGCR8 dimer binds pri-miRNAs as a cooperative trimer (of dimers) and is active in triggering pri-miRNA cleavage, whereas the heme-free DGCR8 monomer binds pri-miRNAs as a dimer and is much less active. Both double-stranded and single-stranded regions of a pri-miRNA are required for its binding (PubMed:15531877, PubMed:15574589, PubMed:15589161, PubMed:16751099, PubMed:16906129, PubMed:16963499, PubMed:17159994). Specifically recognizes and binds N6-methyladenosine (m6A)-containing pri-miRNAs, a modification required for pri-miRNAs processing (PubMed:25799998). Involved in the silencing of embryonic stem cell self-renewal (By similarity). NA NA MicroRNA (miRNA) biogenesis;Transcriptional Regulation by MECP2 PE1 22 +NX_Q8WYQ9 Zinc finger CCHC domain-containing protein 14 949 100042 8.47 0 Nucleus membrane NA NA NA NA NA PE1 16 +NX_Q8WYR1 Phosphoinositide 3-kinase regulatory subunit 5 880 97348 6.3 0 Cytoplasm;Cell membrane;Centriolar satellite;Cytosol;Nucleus Ataxia-oculomotor apraxia 3 Regulatory subunit of the PI3K gamma complex. Required for recruitment of the catalytic subunit to the plasma membrane via interaction with beta-gamma G protein dimers. Required for G protein-mediated activation of PIK3CG (By similarity). NA NA ErbB signaling pathway;Chemokine signaling pathway;Phosphatidylinositol signaling system;mTOR signaling pathway;Apoptosis;VEGF signaling pathway;Osteoclast differentiation;Focal adhesion;Toll-like receptor signaling pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Cholinergic synapse;Regulation of actin cytoskeleton;Insulin signaling pathway;Progesterone-mediated oocyte maturation;Type II diabetes mellitus;Aldosterone-regulated sodium reabsorption;Carbohydrate digestion and absorption;Bacterial invasion of epithelial cells;Chagas disease (American trypanosomiasis);Toxoplasmosis;Amoebiasis;Hepatitis C;Measles;Influenza A;HTLV-I infection;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Melanoma;Chronic myeloid leukemia;Acute myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;Synthesis of PIPs at the plasma membrane;GPVI-mediated activation cascade;G beta:gamma signalling through PI3Kgamma;Erythropoietin activates Phosphoinositide-3-kinase (PI3K) PE1 17 +NX_Q8WYR4 Radial spoke head 1 homolog 309 35124 4.58 0 Cytoplasm;Centrosome;Cilium Ciliary dyskinesia, primary, 24 May play an important role in male meiosis (By similarity). It is necessary for proper building of the axonemal central pair and radial spokes. NA NA NA PE1 21 +NX_Q8WZ04 Transmembrane O-methyltransferase 291 32155 9.3 1 Membrane;Endoplasmic reticulum;Cytoplasm Deafness, autosomal recessive, 63 Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function (PubMed:18794526). Component of the cochlear hair cell's mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity (By similarity). NA Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O-methyltransferase family. Enzymatic degradation of dopamine by COMT PE1 11 +NX_Q8WZ19 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1 329 36357 6.77 0 Nucleoplasm;Nucleus NA Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for synaptic transmission (PubMed:19782033). The BCR(KCTD13) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradation by the proteasome (PubMed:19782033) Degradation of RHOA regulates the actin cytoskeleton and promotes synaptic transmission (By similarity). NA Belongs to the BACURD family. Protein modification; protein ubiquitination. PE1 16 +NX_Q8WZ26 Putative uncharacterized protein PP6455 134 14832 8.26 0 NA NA NA NA NA NA PE2 19 +NX_Q8WZ33 MaFF-interacting protein 124 13947 7.7 0 Cytoplasm;Nucleolus NA Acts as coactivator of MAFF transcriptional activity. Inhibits cell growth and colony-forming efficiency. NA Belongs to the tektin family. NA PE1 4 +NX_Q8WZ42 Titin 34350 3816030 6.02 0 Cytoplasm;Nucleus Cardiomyopathy, familial hypertrophic 9;Tardive tibial muscular dystrophy;Myopathy, myofibrillar, 9, with early respiratory failure;Muscular dystrophy, limb-girdle, autosomal recessive 10;Salih myopathy;Cardiomyopathy, dilated 1G Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase. Autophosphorylated. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Platelet degranulation;Striated Muscle Contraction PE1 2 +NX_Q8WZ55 Barttin 320 35197 4.24 2 Cytoplasm;Cell membrane Bartter syndrome 4A, neonatal, with sensorineural deafness Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter. Palmitoylation is necessary for activation of plasma membrane-inserted CLC-K/barttin channels. NA Stimuli-sensing channels PE1 1 +NX_Q8WZ59 Transmembrane protein 190 177 19457 5.15 1 Membrane NA NA NA NA NA PE1 19 +NX_Q8WZ60 Kelch-like protein 6 621 70359 5.89 0 Spindle;Centriolar satellite;Cell membrane;Cytoskeleton NA Involved in B-lymphocyte antigen receptor signaling and germinal center formation. NA NA NA PE1 3 +NX_Q8WZ64 Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 1704 193452 7.11 0 Cytoplasm;Focal adhesion;Cytoskeleton NA Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency (By similarity). NA NA Endocytosis;Rho GTPase cycle PE1 4 +NX_Q8WZ69 Putative uncharacterized protein C11orf40 217 24620 7.61 0 NA NA NA NA NA NA PE2 11 +NX_Q8WZ71 Transmembrane protein 158 300 30404 8.74 2 Membrane NA Receptor for brain injury-derived neurotrophic peptide (BINP), a synthetic 13-mer peptide. N-glycosylated. Belongs to the TMEM158 family. NA PE1 3 +NX_Q8WZ73 E3 ubiquitin-protein ligase rififylin 363 40514 5.33 0 Cytoplasmic vesicle;Cytosol;Recycling endosome membrane;Cell membrane NA E3 ubiquitin-protein ligase that regulates several biological processes through the ubiquitin-mediated proteasomal degradation of various target proteins. Mediates 'Lys-48'-linked polyubiquitination of PRR5L and its subsequent proteasomal degradation thereby indirectly regulating cell migration through the mTORC2 complex. Ubiquitinates the caspases CASP8 and CASP10, promoting their proteasomal degradation, to negatively regulate cell death downstream of death domain receptors in the extrinsic pathway of apoptosis. Negatively regulates the tumor necrosis factor-mediated signaling pathway through targeting of RIPK1 to ubiquitin-mediated proteasomal degradation. Negatively regulates p53/TP53 through its direct ubiquitination and targeting to proteasomal degradation. Indirectly, may also negatively regulate p53/TP53 through ubiquitination and degradation of SFN. May also play a role in endocytic recycling. Undergoes caspase-mediated cleavage upon death-receptor activation, by TNFSF10 for instance. May be mediated by the caspases CASP8 and CASP10 in a negative feedback loop.;Palmitoylated.;Autoubiquitinated. NA Protein modification; protein ubiquitination.;Regulation of TP53 Degradation PE1 17 +NX_Q8WZ74 Cortactin-binding protein 2 1663 181051 8.23 0 Cytosol;Dendritic spine;Cell cortex;Midbody ring NA Regulates the dendritic spine distribution of CTTN/cortactin in hippocampal neurons, thus controls dendritic spinogenesis and dendritic spine maintenance. NA NA NA PE1 7 +NX_Q8WZ75 Roundabout homolog 4 1007 107457 6.18 0 Cell membrane NA Receptor for Slit proteins, at least for SLIT2, and seems to be involved in angiogenesis and vascular patterning. May mediate the inhibition of primary endothelial cell migration by Slit proteins (By similarity). NA Belongs to the immunoglobulin superfamily. ROBO family. NA PE1 11 +NX_Q8WZ79 Deoxyribonuclease-2-beta 361 41713 9.4 0 Lysosome NA Hydrolyzes DNA under acidic conditions. Does not require divalent cations for activity. Participates in the degradation of nuclear DNA during lens cell differentiation. NA Belongs to the DNase II family. Lysosome PE2 1 +NX_Q8WZ82 Esterase OVCA2 227 24418 6.44 0 Nucleoplasm;Cytosol NA NA Proteolytically degraded in response to RA and 4HPR treatment in a time- and dose-dependent manner in the promyelocytic leukemia cell line HL-60. Belongs to the LovG family. NA PE1 17 +NX_Q8WZ84 Olfactory receptor 8D1 308 34445 8.7 7 Cell membrane NA Odorant receptor (Potential). May be involved in taste perception. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8WZ92 Olfactory receptor 5P2 322 35786 8.01 7 Cell membrane NA Odorant receptor (Potential). May be involved in taste perception. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8WZ94 Olfactory receptor 5P3 311 34296 8.67 7 Cell membrane NA Odorant receptor (Potential). May be involved in taste perception. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q8WZA0 Protein LZIC 190 21495 4.88 0 Nucleoplasm;Cytosol NA NA NA Belongs to the CTNNBIP1 family. NA PE1 1 +NX_Q8WZA1 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 660 75252 6.37 1 Golgi apparatus membrane Retinitis pigmentosa 76;Muscular dystrophy-dystroglycanopathy limb-girdle C3;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins (PubMed:11709191, PubMed:27493216, PubMed:28512129). Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins, providing the necessary basis for the addition of further carbohydrate moieties (PubMed:11709191, PubMed:27493216). Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity. NA Belongs to the glycosyltransferase 13 family. Protein modification; protein glycosylation.;Other types of O-glycan biosynthesis;O-linked glycosylation;Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 PE1 1 +NX_Q8WZA2 Rap guanine nucleotide exchange factor 4 1011 115522 6.37 0 Membrane;Cytoplasm;Focal adhesion NA Guanine nucleotide exchange factor (GEF) for RAP1A, RAP1B and RAP2A small GTPases that is activated by binding cAMP. Seems not to activate RAB3A. Involved in cAMP-dependent, PKA-independent exocytosis through interaction with RIMS2 (By similarity). NA NA Leukocyte transendothelial migration;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Integrin alphaIIb beta3 signaling;Regulation of insulin secretion;Rap1 signalling PE1 2 +NX_Q8WZA6 Olfactory receptor 1E3 343 38518 8.85 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 17 +NX_Q8WZA8 Putative gastric cancer-related gene 224 protein 35 3819 7.96 0 NA NA NA NA NA NA PE5 11 +NX_Q8WZA9 Immunity-related GTPase family Q protein 623 62717 4.81 0 Cytoplasmic vesicle NA NA NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. IRG family. NA PE1 19 +NX_Q8WZB0 Putative uncharacterized protein encoded by LINC00476 136 14715 11.93 0 NA NA NA NA NA NA PE5 9 +NX_Q902F8 Endogenous retrovirus group K member 8 Env polyprotein 699 79168 9.26 1 Virion;Cell membrane NA TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).;SU mediates receptor recognition.;Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties. Specific enzymatic cleavages in vivo yield the mature SU and TM proteins. Belongs to the beta type-B retroviral envelope protein family. HERV class-II K(HML-2) env subfamily. NA PE1 8 +NX_Q902F9 Endogenous retrovirus group K member 113 Env polyprotein 699 79195 9.06 1 Virion;Cell membrane NA TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).;Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.;SU mediates receptor recognition. Specific enzymatic cleavages in vivo yield the mature SU and TM proteins. Belongs to the beta type-B retroviral envelope protein family. HERV class-II K(HML-2) env subfamily. NA PE1 19 +NX_Q92185 Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase 356 40519 9.41 1 Golgi apparatus membrane NA Involved in the production of gangliosides GD3 and GT3 from GM3; gangliosides are a subfamily of complex glycosphinglolipds that contain one or more residues of sialic acid. NA Belongs to the glycosyltransferase 29 family. Lipid metabolism; sphingolipid metabolism.;Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - lacto and neolacto series;Glycosphingolipid biosynthesis - globo series;Glycosphingolipid biosynthesis - ganglio series;Metabolic pathways;Sialic acid metabolism PE1 12 +NX_Q92186 Alpha-2,8-sialyltransferase 8B 375 42430 9.48 1 Centriolar satellite;Golgi apparatus membrane NA May transfer sialic acid through alpha-2,8-linkages to the alpha-2,3-linked and alpha-2,6-linked sialic acid of N-linked oligosaccharides of glycoproteins and may be involved in PSA (polysialic acid) expression. NA Belongs to the glycosyltransferase 29 family. Protein modification; protein glycosylation.;Sialic acid metabolism;NCAM1 interactions;N-Glycan antennae elongation PE1 15 +NX_Q92187 CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase 359 41295 9.77 1 Golgi apparatus;Golgi apparatus membrane NA Catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid (PSA), which is present on the embryonic neural cell adhesion molecule (N-CAM), necessary for plasticity of neural cells. NA Belongs to the glycosyltransferase 29 family. Protein modification; protein glycosylation.;Sialic acid metabolism;NCAM1 interactions PE1 5 +NX_Q92466 DNA damage-binding protein 2 427 47864 9.56 0 Nucleoplasm;Cell junction;Nucleus Xeroderma pigmentosum complementation group E Inhibit UV-damaged DNA repair.;Required for DNA repair. Binds to DDB1 to form the UV-damaged DNA-binding protein complex (the UV-DDB complex). The UV-DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to function as the substrate recognition module for the DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex DDB1-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1). The DDB1-CUL4-ROC1 complex may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage. The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair. The DDB1-CUL4-ROC1 complex also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER. Ubiquitinated, leading to proteasomal degradation, and deubiquitinated by USP24.;Phosphorylation by ABL1 negatively regulate UV-DDB activity.;Ubiquitinated by CUL4A in response to UV irradiation. Ubiquitination appears to both impair DNA-binding and promotes ubiquitin-dependent proteolysis. Degradation of DDB2 at sites of DNA damage may be a prerequisite for their recognition by XPC and subsequent repair. CUL4A-mediated degradation appears to be promoted by ABL1.;DDB2 is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255) Belongs to the WD repeat DDB2/WDR76 family. Protein modification; protein ubiquitination.;Nucleotide excision repair;p53 signaling pathway;Ubiquitin mediated proteolysis;DNA Damage Recognition in GG-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER;TP53 Regulates Transcription of DNA Repair Genes;Ub-specific processing proteases;Neddylation PE1 11 +NX_Q92478 C-type lectin domain family 2 member B 149 17307 9.02 1 Membrane NA NA NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 12 +NX_Q92481 Transcription factor AP-2-beta 460 50474 8.41 0 Nucleoplasm;Nucleus Char syndrome;Patent ductus arteriosus 2 Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-beta appears to be required for normal face and limb development and for proper terminal differentiation and function of renal tubular epithelia. Sumoylated on Lys-21; which inhibits transcriptional activity. Belongs to the AP-2 family. SUMOylation of transcription factors;Activation of the TFAP2 (AP-2) family of transcription factors;TFAP2 (AP-2) family regulates transcription of growth factors and their receptors;Negative regulation of activity of TFAP2 (AP-2) family transcription factors PE1 6 +NX_Q92482 Aquaporin-3 292 31544 6.74 6 Nucleoplasm;Basolateral cell membrane;Cell membrane NA Water channel required to promote glycerol permeability and water transport across cell membranes (PubMed:12239222, PubMed:30420639). Acts as a glycerol transporter in skin and plays an important role in regulating SC (stratum corneum) and epidermal glycerol content. Involved in skin hydration, wound healing, and tumorigenesis. Provides kidney medullary collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Slightly permeable to urea and may function as a water and urea exit mechanism in antidiuresis in collecting duct cells. It may play an important role in gastrointestinal tract water transport and in glycerol metabolism (By similarity). NA Belongs to the MIP/aquaporin (TC 1.A.8) family. Vasopressin-regulated water reabsorption;Vasopressin regulates renal water homeostasis via Aquaporins;Passive transport by Aquaporins PE1 9 +NX_Q92484 Acid sphingomyelinase-like phosphodiesterase 3a 453 51260 5.88 0 Nucleoplasm;Mitochondrion;Secreted;Nucleolus NA Has in vitro nucleotide phosphodiesterase activity with nucleoside triphosphates, such as ATP (PubMed:25288789, PubMed:26783088). Has in vitro activity with p-nitrophenyl-TMP (PubMed:25288789). Has lower activity with nucleoside diphosphates, and no activity with nucleoside monophosphates (PubMed:25288789, PubMed:26783088). Has in vitro activity with CDP-choline, giving rise to CMP and phosphocholine. Has in vitro activity with CDP-ethanolamine (PubMed:26783088). Does not have sphingomyelin phosphodiesterase activity (PubMed:25288789, PubMed:26783088). N-glycosylated. Belongs to the acid sphingomyelinase family. NA PE1 6 +NX_Q92485 Acid sphingomyelinase-like phosphodiesterase 3b 455 50814 5.36 0 Golgi apparatus;Cytosol;Secreted;Cell membrane NA Lipid-modulating phosphodiesterase (PubMed:26095358). Active on the surface of macrophages and dendritic cells and strongly influences macrophage lipid composition and membrane fluidity. Acts as a negative regulator of Toll-like receptor signaling (By similarity). Has in vitro phosphodiesterase activity, but the physiological substrate is unknown (PubMed:26095358). Lacks activity with phosphocholine-containing lipids, but can cleave CDP-choline, and can release phosphate from ATP and ADP (in vitro) (By similarity). N-glycosylated. Belongs to the acid sphingomyelinase family. NA PE1 1 +NX_Q92496 Complement factor H-related protein 4 578 65351 4.85 0 Secreted NA Involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism. Glycosylated. NA Regulation of Complement cascade PE1 1 +NX_Q92499 ATP-dependent RNA helicase DDX1 740 82432 6.8 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cytosol;Cytoplasmic granule;Nucleus NA (Microbial infection) Required for HIV-1 Rev function as well as for HIV-1 and coronavirus IBV replication. Binds to the RRE sequence of HIV-1 mRNAs.;(Microbial infection) Required for Coronavirus IBV replication.;Acts as an ATP-dependent RNA helicase, able to unwind both RNA-RNA and RNA-DNA duplexes. Possesses 5' single-stranded RNA overhang nuclease activity. Possesses ATPase activity on various RNA, but not DNA polynucleotides. May play a role in RNA clearance at DNA double-strand breaks (DSBs), thereby facilitating the template-guided repair of transcriptionally active regions of the genome. Together with RELA, acts as a coactivator to enhance NF-kappa-B-mediated transcriptional activation. Acts as a positive transcriptional regulator of cyclin CCND2 expression. Binds to the cyclin CCND2 promoter region. Associates with chromatin at the NF-kappa-B promoter region via association with RELA. Binds to poly(A) RNA. May be involved in 3'-end cleavage and polyadenylation of pre-mRNAs. Component of the tRNA-splicing ligase complex required to facilitate the enzymatic turnover of catalytic subunit RTCB: together with archease (ZBTB8OS), acts by facilitating the guanylylation of RTCB, a key intermediate step in tRNA ligation (PubMed:24870230). Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of proinflammatory cytokines via the adapter molecule TICAM1. Specifically binds (via helicase ATP-binding domain) on both short and long poly(I:C) dsRNA (By similarity). Phosphorylated by ATM kinase; phosphorylation is increased in response to ionizing radiation (IR). Belongs to the DEAD box helicase family. DDX1 subfamily. tRNA processing in the nucleus PE1 2 +NX_Q92502 StAR-related lipid transfer protein 8 1023 112601 5.87 0 Focal adhesion NA Accelerates GTPase activity of RHOA and CDC42, but not RAC1. Stimulates the hydrolysis of phosphatidylinositol 4,5-bisphosphate by PLCD1. NA NA Rho GTPase cycle PE1 X +NX_Q92503 SEC14-like protein 1 715 81250 6.01 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Cytosol;Nucleus NA May play a role in innate immunity by inhibiting the antiviral RIG-I signaling pathway. In this pathway, functions as a negative regulator of DDX58/RIG-I, the cytoplasmic sensor of viral nucleic acids. Prevents the interaction of DDX58 with MAVS/IPS1, an important step in signal propagation (PubMed:23843640). May also regulate the SLC18A3 and SLC5A7 cholinergic transporters (PubMed:17092608). NA NA NA PE1 17 +NX_Q92504 Zinc transporter SLC39A7 469 50118 6.36 6 Endoplasmic reticulum;cis-Golgi network membrane;Endoplasmic reticulum membrane NA Zinc transporter, that transports Zn(2+) from the endoplasmic reticulum/Golgi apparatus to the cytosol. Transport is stimulated by growth factors, such as EGF, and Ca(2+), as well as by exogenous Zn(2+). Rapidly phosphorylated by CK2 following Zn(2+) treatment. This phosphorylation is required for efficient cytosolic Zn(2+) release. Belongs to the ZIP transporter (TC 2.A.5) family. KE4/Catsup subfamily. Zinc influx into cells by the SLC39 gene family PE1 6 +NX_Q92506 Estradiol 17-beta-dehydrogenase 8 261 26974 6.09 0 Mitochondrion matrix NA NAD-dependent 17-beta-hydroxysteroid dehydrogenase with highest activity towards estradiol. Has very low activity towards testosterone (PubMed:17978863). The heterotetramer with CBR4 has NADH-dependent 3-ketoacyl-acyl carrier protein reductase activity, and thereby plays a role in mitochondrial fatty acid biosynthesis (PubMed:19571038, PubMed:25203508). Within the heterotetramer, HSD17B8 binds NADH; CBR4 binds NADPD (PubMed:25203508). NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Lipid metabolism; fatty acid biosynthesis.;Steroid biosynthesis; estrogen biosynthesis.;Steroid hormone biosynthesis;Metabolic pathways;Fatty acyl-CoA biosynthesis PE1 6 +NX_Q92508 Piezo-type mechanosensitive ion channel component 1 2521 286790 7.37 36 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane;Lamellipodium membrane;Cell membrane Lymphatic malformation 6;Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema Pore-forming subunit of a mechanosensitive non-specific cation channel (PubMed:23479567, PubMed:23695678). Generates currents characterized by a linear current-voltage relationship that are sensitive to ruthenium red and gadolinium. Plays a key role in epithelial cell adhesion by maintaining integrin activation through R-Ras recruitment to the ER, most probably in its activated state, and subsequent stimulation of calpain signaling (PubMed:20016066). In the kidney, may contribute to the detection of intraluminal pressure changes and to urine flow sensing. Acts as shear-stress sensor that promotes endothelial cell organization and alignment in the direction of blood flow through calpain activation (PubMed:25119035). Plays a key role in blood vessel formation and vascular structure in both development and adult physiology (By similarity). NA Belongs to the PIEZO (TC 1.A.75) family. NA PE1 16 +NX_Q92519 Tribbles homolog 2 343 38801 5.77 0 Nucleoplasm;Cytoplasm;Cytosol;Cytoskeleton NA Interacts with MAPK kinases and regulates activation of MAP kinases. Does not display kinase activity (By similarity). NA Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Tribbles subfamily. NA PE1 2 +NX_Q92520 Protein FAM3C 227 24680 8.52 0 Golgi apparatus;Secreted;Cytoplasmic vesicle NA May be involved in retinal laminar formation. Promotes epithelial to mesenchymal transition. NA Belongs to the FAM3 family. Platelet degranulation PE1 7 +NX_Q92521 GPI mannosyltransferase 3 554 65056 9.39 9 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the third alpha-1,2-mannose to Man2-GlcN-acyl-PI during GPI precursor assembly. NA Belongs to the glycosyltransferase 22 family. PIGB subfamily. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Synthesis of glycosylphosphatidylinositol (GPI) PE1 15 +NX_Q92522 Histone H1x 213 22487 10.76 0 Nucleoplasm;Nucleolus;Nucleus;Chromosome NA Histones H1 are necessary for the condensation of nucleosome chains into higher-order structures. Citrullination at Arg-62 (H1R54ci) by PADI4 takes place within the DNA-binding site of H1 and results in its displacement from chromatin and global chromatin decondensation, thereby promoting pluripotency and stem cell maintenance. Belongs to the histone H1/H5 family. NA PE1 3 +NX_Q92523 Carnitine O-palmitoyltransferase 1, muscle isoform 772 87801 8.86 2 Mitochondrion outer membrane NA NA NA Belongs to the carnitine/choline acetyltransferase family. Lipid metabolism; fatty acid beta-oxidation.;Fatty acid metabolism;PPAR signaling pathway;Adipocytokine signaling pathway;Signaling by Retinoic Acid;Import of palmitoyl-CoA into the mitochondrial matrix PE1 22 +NX_Q92526 T-complex protein 1 subunit zeta-2 530 57821 6.85 0 Cytoplasm NA Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. NA Belongs to the TCP-1 chaperonin family. Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Folding of actin by CCT/TriC;Association of TriC/CCT with target proteins during biosynthesis;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding PE1 17 +NX_Q92527 Ankyrin repeat domain-containing protein 7 254 29029 9.09 0 Nucleoplasm NA NA NA NA NA PE1 7 +NX_Q92529 SHC-transforming protein 3 594 64056 8.57 0 Nucleoplasm NA Signaling adapter that couples activated growth factor receptors to signaling pathway in neurons. Involved in the signal transduction pathways of neurotrophin-activated Trk receptors in cortical neurons. Tyrosine phosphorylated. NA ErbB signaling pathway;Chemokine signaling pathway;Focal adhesion;Natural killer cell mediated cytotoxicity;Neurotrophin signaling pathway;Insulin signaling pathway;Bacterial invasion of epithelial cells;Glioma;Chronic myeloid leukemia;RAF/MAP kinase cascade;Signalling to RAS;RET signaling PE1 9 +NX_Q92530 Proteasome inhibitor PI31 subunit 271 29817 5.42 0 Endoplasmic reticulum;Cytoplasm;Cytosol NA Plays an important role in control of proteasome function. Inhibits the hydrolysis of protein and peptide substrates by the 20S proteasome. Also inhibits the activation of the proteasome by the proteasome regulatory proteins PA700 and PA28. NA Belongs to the proteasome inhibitor PI31 family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 20 +NX_Q92535 Phosphatidylinositol N-acetylglucosaminyltransferase subunit C 297 33583 8.66 8 Endoplasmic reticulum membrane Glycosylphosphatidylinositol biosynthesis defect 16 Involved in GPI anchor biosynthesis (PubMed:8806613, PubMed:27694521). Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis (ECO:0000269|PubMed:27694521). NA Belongs to the PIGC family. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Synthesis of glycosylphosphatidylinositol (GPI) PE1 1 +NX_Q92536 Y+L amino acid transporter 2 515 56828 5.63 12 Cytoplasmic vesicle;Basolateral cell membrane;Cell membrane NA Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Also acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes. Reduces uptake of ornithine in retinal pigment epithelial (RPE) cells. NA Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. Amino acid transport across the plasma membrane;Basigin interactions PE1 16 +NX_Q92537 Sushi domain-containing protein 6 303 32090 5.01 1 Membrane;Nucleoplasm;Cytoskeleton NA May play a role in growth-suppressive activity and cell death (PubMed:24652652). May be involved in the production of chemokine molecules in umbilical vein endothelial cells (HUVECs) cultured in THP1 monocyte LPS-induced medium (PubMed:20236627). Plays a role in preventing tumor onset (By similarity). NA NA NA PE1 14 +NX_Q92538 Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 1859 206446 5.48 0 trans-Golgi network;Cytoplasm;Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment;Lipid droplet;Membrane;cis-Golgi network NA Guanine-nucleotide exchange factor (GEF) for members of the Arf family of small GTPases involved in trafficking in the early secretory pathway; its GEF activity initiates the coating of nascent vesicles via the localized generation of activated ARFs through replacement of GDP with GTP. Recruitment to cis-Golgi membranes requires membrane association of Arf-GDP and can be regulated by ARF1, ARF3, ARF4 and ARF5. Involved in the recruitment of the COPI coat complex to the endoplasmic reticulum exit sites (ERES), and the endoplasmic reticulum-Golgi intermediate (ERGIC) and cis-Golgi compartments which implicates ARF1 activation. Involved in COPI vesicle-dependent retrograde transport from the ERGIC and cis-Golgi compartments to the endoplasmic reticulum (ER) (PubMed:16926190, PubMed:17956946, PubMed:18003980, PubMed:12047556, PubMed:12808027, PubMed:19039328, PubMed:24213530). Involved in the trans-Golgi network recruitment of GGA1, GGA2, GGA3, BIG1, BIG2, and the AP-1 adaptor protein complex related to chlathrin-dependent transport; the function requires its GEF activity (probably at least in part on ARF4 and ARF5) (PubMed:23386609). Has GEF activity towards ARF1 (PubMed:15616190). Has in vitro GEF activity towards ARF5 (By similarity). Involved in the processing of PSAP (PubMed:17666033). Required for the assembly of the Golgi apparatus (PubMed:12808027, PubMed:18003980). The AMPK-phosphorylated form is involved in Golgi disassembly during mitotis and under stress conditions (PubMed:18063581, PubMed:23418352). May be involved in the COPI vesicle-dependent recruitment of PNPLA2 to lipid droplets; however, this function is under debate (PubMed:19461073, PubMed:22185782). In neutrophils, involved in G protein-coupled receptor (GPCR)-mediated chemotaxis und superoxide production. Proposed to be recruited by phosphatidylinositol-phosphates generated upon GPCR stimulation to the leading edge where it recruits and activates ARF1, and is involved in recruitment of GIT2 and the NADPH oxidase complex (PubMed:22573891). AMPK-mediated phosphorylation at Thr-1337 is induced by 2-deoxyglucose (2-DG) and AICA ribonucleotide, and occurs during mitosis leading to membrane disassociation and inactivation of ARF1 during mitosis. NA VxPx cargo-targeting to cilium;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;trans-Golgi Network Vesicle Budding PE1 10 +NX_Q92539 Phosphatidate phosphatase LPIN2 896 99399 5.18 0 Endoplasmic reticulum membrane;Cell membrane;Cytosol;Nucleus;Cytoskeleton Majeed syndrome Plays important roles in controlling the metabolism of fatty acids at different levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A to modulate lipid metabolism (By similarity). NA Belongs to the lipin family. Synthesis of PC;Synthesis of PE;Triglyceride biosynthesis;Depolymerisation of the Nuclear Lamina PE1 18 +NX_Q92540 Protein SMG7 1137 127282 8.87 0 Cytoplasm;Cytosol;Nucleus;Cytoskeleton NA Plays a role in nonsense-mediated mRNA decay. Recruits UPF1 to cytoplasmic mRNA decay bodies. Together with SMG5 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation. NA NA mRNA surveillance pathway;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) PE1 1 +NX_Q92541 RNA polymerase-associated protein RTF1 homolog 710 80313 8.21 0 Nucleoplasm;Cytosol NA Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Binds single-stranded DNA. Required for maximal induction of heat-shock genes. Required for the trimethylation of histone H3 'Lys-4' (H3K4me3) on genes involved in stem cell pluripotency; this function is synergistic with CXXC1 indicative for an involvement of a SET1 complex (By similarity). NA NA Formation of RNA Pol II elongation complex;RNA Polymerase II Pre-transcription Events;RNA Polymerase II Transcription Elongation;E3 ubiquitin ligases ubiquitinate target proteins PE1 15 +NX_Q92542 Nicastrin 709 78411 5.67 1 Membrane;Cytoplasmic vesicle membrane;Cytosol;Melanosome Acne inversa, familial, 1 Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:10993067, PubMed:12679784, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels. N-glycosylated. Belongs to the nicastrin family. Notch signaling pathway;Alzheimer's disease;Degradation of the extracellular matrix;EPH-ephrin mediated repulsion of cells;Amyloid fiber formation;Nuclear signaling by ERBB4;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activated NOTCH1 Transmits Signal to the Nucleus;Regulated proteolysis of p75NTR;NOTCH2 Activation and Transmission of Signal to the Nucleus;NRIF signals cell death from the nucleus;Neutrophil degranulation;NOTCH3 Activation and Transmission of Signal to the Nucleus;Noncanonical activation of NOTCH3;NOTCH4 Activation and Transmission of Signal to the Nucleus PE1 1 +NX_Q92543 Sorting nexin-19 992 108598 4.97 0 Early endosome membrane;Cytoplasmic vesicle membrane;Mitochondrion NA Plays a role in intracellular vesicle trafficking and exocytosis (PubMed:24843546). May play a role in maintaining insulin-containing dense core vesicles in pancreatic beta-cells and in preventing their degradation. May play a role in insulin secretion (PubMed:24843546). Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) (By similarity). NA Belongs to the sorting nexin family. NA PE1 11 +NX_Q92544 Transmembrane 9 superfamily member 4 642 74519 6.11 9 Membrane;Golgi apparatus;Early endosome NA Associates with proteins harboring glycine-rich transmembrane domains and ensures their efficient localization to the cell surface (PubMed:25999474). Regulates the assembly and activity of V-ATPase in colon cancer cells via its interaction with V-type proton ATPase subunit H (ATP6V1H) and contributes to V-ATPase-mediated pH alterations in cancer cells which play an important role in drug resistance and invasiveness of colon cancer cells (PubMed:25659576). Plays an important role in an atypical phagocytic activity of metastatic melanoma cells called cannibalism and is involved in the pH regulation of the intracellular vesicles in tumor cells (PubMed:19893578). NA Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family. NA PE1 20 +NX_Q92545 Transmembrane protein 131 1883 205138 8.74 2 Membrane;Cytoplasmic vesicle;Cytoskeleton NA May play a role in the immune response to viral infection. NA Belongs to the TMEM131 family. NA PE1 2 +NX_Q92546 RAB6A-GEF complex partner protein 2 391 42455 5.65 0 Membrane;Cytosol;Cell membrane NA The RIC1-RGP1 complex acts as a guanine nucleotide exchange factor (GEF), which activates RAB6A by exchanging bound GDP for free GTP and may thereby required for efficient fusion of endosome-derived vesicles with the Golgi compartment. The RIC1-RGP1 complex participates in the recycling of mannose-6-phosphate receptors. NA Belongs to the RGP1 family. Intra-Golgi traffic;Retrograde transport at the Trans-Golgi-Network;RAB GEFs exchange GTP for GDP on RABs PE1 9 +NX_Q92547 DNA topoisomerase 2-binding protein 1 1522 170679 6.52 0 Chromosome;Nucleoplasm;Spindle pole;Centrosome;Nucleus NA Required for DNA replication. Plays a role in the rescue of stalled replication forks and checkpoint control. Binds double-stranded DNA breaks and nicks as well as single-stranded DNA. Recruits the SWI/SNF chromatin remodeling complex to E2F1-responsive promoters. Down-regulates E2F1 activity and inhibits E2F1-dependent apoptosis during G1/S transition and after DNA damage. Induces a large increase in the kinase activity of ATR (PubMed:16530042). Phosphorylated on serine and threonine residues in response to X-ray irradiation.;Ubiquitinated and degraded by the proteasome. X-ray irradiation reduces ubiquitination. NA G2/M DNA damage checkpoint;HDR through Single Strand Annealing (SSA);Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Regulation of TP53 Activity through Phosphorylation PE1 3 +NX_Q92551 Inositol hexakisphosphate kinase 1 441 50236 6.81 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. NA Belongs to the inositol phosphokinase (IPK) family. Synthesis of IPs in the nucleus;Synthesis of pyrophosphates in the cytosol PE1 3 +NX_Q92552 28S ribosomal protein S27, mitochondrial 414 47611 5.83 0 Cytoplasm;Mitochondrion;Cell membrane;Nucleolus;Nucleoplasm NA RNA-binding component of the mitochondrial small ribosomal subunit (mt-SSU) that plays a role in mitochondrial protein synthesis (PubMed:22841715). Stimulates mitochondrial mRNA translation of subunit components of the mitochondrial electron transport chain (PubMed:22841715). Binds to the mitochondrial 12S rRNA (12S mt-rRNA) and tRNA(Glu) (PubMed:22841715). Involved also in positive regulation of cell proliferation and tumor cell growth (PubMed:28714366). NA Belongs to the mitochondrion-specific ribosomal protein mS27 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 5 +NX_Q92556 Engulfment and cell motility protein 1 727 83829 5.89 0 Cytoplasm;Cell membrane NA Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1. Phosphorylated by HCK. NA Chemokine signaling pathway;Bacterial invasion of epithelial cells;Shigellosis;Regulation of actin dynamics for phagocytic cup formation;VEGFA-VEGFR2 Pathway;Nef and signal transduction;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases PE1 7 +NX_Q92558 Wiskott-Aldrich syndrome protein family member 1 559 61652 6.01 0 Focal adhesion;Synapse;Cytoskeleton NA Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex (By similarity). As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity). Phosphorylated on tyrosine residues by ABL1 and dephosphorylated by PTPN12. Belongs to the SCAR/WAVE family. Adherens junction;Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Shigellosis;Salmonella infection;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;VEGFA-VEGFR2 Pathway PE1 6 +NX_Q92560 Ubiquitin carboxyl-terminal hydrolase BAP1 729 80362 6.38 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus Mesothelioma, malignant;Tumor predisposition syndrome Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1 (PubMed:12485996, PubMed:18757409, PubMed:20436459, PubMed:25451922). Catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (PubMed:20436459, PubMed:25451922). Does not deubiquitinate monoubiquitinated histone H2B (PubMed:20436459). Acts as a regulator of cell growth by mediating deubiquitination of HCFC1 N-terminal and C-terminal chains, with some specificity toward 'Lys-48'-linked polyubiquitin chains compared to 'Lys-63'-linked polyubiquitin chains (PubMed:19188440, PubMed:19815555). Deubiquitination of HCFC1 does not lead to increase stability of HCFC1 (PubMed:19188440, PubMed:19815555). Interferes with the BRCA1 and BARD1 heterodimer activity by inhibiting their ability to mediate ubiquitination and autoubiquitination (PubMed:19117993). It however does not mediate deubiquitination of BRCA1 and BARD1 (PubMed:19117993). Able to mediate autodeubiquitination via intramolecular interactions to couteract monoubiquitination at the nuclear localization signal (NLS), thereby protecting it from cytoplasmic sequestration (PubMed:24703950). Acts as a tumor suppressor (PubMed:9528852). Ubiquitinated: monoubiquitinated at multiple site of its nuclear localization signal (NLS) BY UBE2O, leading to cytoplasmic retention. Able to mediate autodeubiquitination via intramolecular interactions to couteract cytoplasmic retention. Belongs to the peptidase C12 family. BAP1 subfamily. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;UCH proteinases PE1 3 +NX_Q92561 Phytanoyl-CoA hydroxylase-interacting protein 330 37573 6.53 0 Nucleoplasm;Mitochondrion NA Its interaction with PHYH suggests a role in the development of the central system. NA Belongs to the PHYHIP family. NA PE1 8 +NX_Q92562 Polyphosphoinositide phosphatase 907 103635 6.46 0 Cytoplasmic vesicle;Lipid droplet;Endosome membrane Yunis-Varon syndrome;Amyotrophic lateral sclerosis 11;Charcot-Marie-Tooth disease 4J;Polymicrogyria, bilateral temporooccipital The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes. NA NA Synthesis of PIPs at the Golgi membrane;Synthesis of PIPs at the early endosome membrane;Synthesis of PIPs at the late endosome membrane PE1 6 +NX_Q92563 Testican-2 424 46779 4.71 0 Extracellular matrix NA May participate in diverse steps of neurogenesis. Binds calcium. Contains chondroitin sulfate and heparan sulfate O-linked oligosaccharides. NA NA PE1 10 +NX_Q92564 DCN1-like protein 4 292 34068 5.58 0 Cytoplasmic vesicle;Nucleoplasm NA NA NA NA Neddylation PE1 4 +NX_Q92565 Rap guanine nucleotide exchange factor 5 580 67733 5.89 0 Nucleoplasm;Nucleus NA Guanine nucleotide exchange factor (GEF) for RAP1A, RAP2A and MRAS/M-Ras-GTP. Its association with MRAS inhibits Rap1 activation. NA NA NA PE1 7 +NX_Q92567 Protein FAM168A 244 26184 9.01 0 Nucleoplasm NA In cancer context, protects cells from induced-DNA damage and apoptosis. Acts, at least in part, through PI3K/AKT/NFKB signaling pathway and by preventing POLB degradation. Decreases POLB ubiquitation and stabilizes its protein levels. NA Belongs to the FAM168 family. NA PE1 11 +NX_Q92569 Phosphatidylinositol 3-kinase regulatory subunit gamma 461 54448 5.68 0 Nucleoplasm;Cytoplasmic vesicle NA Binds to activated (phosphorylated) protein-tyrosine kinases through its SH2 domain and regulates their kinase activity. During insulin stimulation, it also binds to IRS-1. NA Belongs to the PI3K p85 subunit family. ErbB signaling pathway;Chemokine signaling pathway;Phosphatidylinositol signaling system;mTOR signaling pathway;Apoptosis;VEGF signaling pathway;Osteoclast differentiation;Focal adhesion;Toll-like receptor signaling pathway;Jak-STAT signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Neurotrophin signaling pathway;Cholinergic synapse;Regulation of actin cytoskeleton;Insulin signaling pathway;Progesterone-mediated oocyte maturation;Type II diabetes mellitus;Aldosterone-regulated sodium reabsorption;Carbohydrate digestion and absorption;Bacterial invasion of epithelial cells;Chagas disease (American trypanosomiasis);Toxoplasmosis;Amoebiasis;Hepatitis C;Measles;Influenza A;HTLV-I infection;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Melanoma;Chronic myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;G alpha (q) signalling events;Synthesis of PIPs at the plasma membrane;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;GPVI-mediated activation cascade;Interleukin-7 signaling;Interleukin receptor SHC signaling;CD28 dependent PI3K/Akt signaling;Signaling by SCF-KIT;Interleukin-3, Interleukin-5 and GM-CSF signaling;Regulation of signaling by CBL;Costimulation by the CD28 family;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;RET signaling;Extra-nuclear estrogen signaling PE1 1 +NX_Q92570 Nuclear receptor subfamily 4 group A member 3 626 68230 8 0 Nucleus Ewing sarcoma Transcriptional activator that binds to regulatory elements in promoter regions in a cell- and response element (target)-specific manner. Induces gene expression by binding as monomers to the NR4A1 response element (NBRE) 5'-AAAAGGTCA-3' site and as homodimers to the Nur response element (NurRE) site in the promoter of their regulated target genes (By similarity). Plays a role in the regulation of proliferation, survival and differentiation of many different cell types and also in metabolism and inflammation. Mediates proliferation of vascular smooth muscle, myeloid progenitor cell and type B pancreatic cells; promotes mitogen-induced vascular smooth muscle cell proliferation through transactivation of SKP2 promoter by binding a NBRE site (By similarity). Upon PDGF stimulation, stimulates vascular smooth muscle cell proliferation by regulating CCND1 and CCND2 expression. In islets, induces type B pancreatic cell proliferation through up-regulation of genes that activate cell cycle, as well as genes that cause degradation of the CDKN1A (By similarity). Negatively regulates myeloid progenitor cell proliferation by repressing RUNX1 in a NBRE site-independent manner. During inner ear, plays a role as a key mediator of the proliferative growth phase of semicircular canal development (By similarity). Mediates also survival of neuron and smooth muscle cells; mediates CREB-induced neuronal survival, and during hippocampus development, plays a critical role in pyramidal cell survival and axonal guidance. Is required for S phase entry of the cell cycle and survival of smooth muscle cells by inducing CCND1, resulting in RB1 phosphorylation. Binds to NBRE motif in CCND1 promoter, resulting in the activation of the promoter and CCND1 transcription (By similarity). Plays also a role in inflammation; upon TNF stimulation, mediates monocyte adhesion by inducing the expression of VCAM1 and ICAM1 by binding to the NBRE consensus site (By similarity) (PubMed:20558821). In mast cells activated by Fc-epsilon receptor cross-linking, promotes the synthesis and release of cytokines but impairs events leading to degranulation (By similarity). Plays also a role in metabolism; by modulating feeding behavior; and by playing a role in energy balance by inhibiting the glucocorticoid-induced orexigenic neuropeptides AGRP expression, at least in part by forming a complex with activated NR3C1 on the AGRP- glucocorticoid response element (GRE), and thus weakening the DNA binding activity of NR3C1. Upon catecholamines stimulation, regulates gene expression that controls oxidative metabolism in skeletal muscle (By similarity). Plays a role in glucose transport by regulating translocation of the SLC2A4 glucose transporter to the cell surface (PubMed:24022864). Finally, during gastrulation plays a crucial role in the formation of anterior mesoderm by controlling cell migration. Inhibits adipogenesis (By similarity). Also participates in cardiac hypertrophy by activating PARP1 (By similarity). Phosphorylated by PRKDC. Belongs to the nuclear hormone receptor family. NR4 subfamily. Nuclear Receptor transcription pathway;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 9 +NX_Q92572 AP-3 complex subunit sigma-1 193 21732 5.23 0 Golgi apparatus;Cytoplasmic vesicle membrane NA Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. NA Belongs to the adaptor complexes small subunit family. Lysosome;Golgi Associated Vesicle Biogenesis PE1 5 +NX_Q92574 Hamartin 1164 129767 6.02 0 Membrane;Cytoplasm;Cytosol Tuberous sclerosis 1;Lymphangioleiomyomatosis;Focal cortical dysplasia 2 In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling (PubMed:12271141, PubMed:28215400). Seems not to be required for TSC2 GAP activity towards RHEB (PubMed:15340059). Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling (By similarity). Acts as a co-chaperone for HSP90AA1 facilitating HSP90AA1 chaperoning of protein clients such as kinases, TSC2 and glucocorticoid receptor NR3C1 (PubMed:29127155). Increases ATP binding to HSP90AA1 and inhibits HSP90AA1 ATPase activity (PubMed:29127155). Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:29127155). Recruits TSC2 to HSP90AA1 and stabilizes TSC2 by preventing the interaction between TSC2 and ubiquitin ligase HERC1 (PubMed:16464865, PubMed:29127155). Phosphorylation at Ser-505 does not affect interaction with TSC2. NA mTOR signaling pathway;Insulin signaling pathway;Macroautophagy;TP53 Regulates Metabolic Genes;Energy dependent regulation of mTOR by LKB1-AMPK;Inhibition of TSC complex formation by PKB;TBC/RABGAPs PE1 9 +NX_Q92575 UBX domain-containing protein 4 508 56778 6.1 0 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus envelope NA Involved in endoplasmic reticulum-associated protein degradation (ERAD). Acts as a platform to recruit both UBQLN1 and VCP to the ER during ERAD (PubMed:19822669). NA NA NA PE1 2 +NX_Q92576 PHD finger protein 3 2039 229481 6.52 0 Nucleoplasm NA NA NA NA NA PE1 6 +NX_Q92581 Sodium/hydrogen exchanger 6 669 74162 6.03 13 Cytoplasmic vesicle;Endosome membrane Mental retardation, X-linked, syndromic, Christianson type Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis. NA Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. Cardiac muscle contraction;Sodium/Proton exchangers;Defective SLC9A6 causes X-linked, syndromic mental retardation, Christianson type (MRXSCH) PE1 X +NX_Q92583 C-C motif chemokine 17 94 10507 9.59 0 Secreted NA Chemotactic factor for T-lymphocytes but not monocytes or granulocytes. May play a role in T-cell development in thymus and in trafficking and activation of mature T-cells. Binds to CCR4. NA Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway PE1 16 +NX_Q92585 Mastermind-like protein 1 1016 108054 8.45 0 Nucleoplasm;Nucleus speckle NA Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Enhances phosphorylation and proteolytic turnover of the NOTCH intracellular domain in the nucleus through interaction with CDK8. Binds to CREBBP/CBP which promotes nucleosome acetylation at NOTCH enhancers and activates transcription. Induces phosphorylation and localization of CREBBP to nuclear foci. Plays a role in hematopoietic development by regulating NOTCH-mediated lymphoid cell fate decisions. NA Belongs to the mastermind family. Notch signaling pathway;Pre-NOTCH Transcription and Translation;Notch-HLH transcription pathway;NOTCH2 intracellular domain regulates transcription;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells;RUNX3 regulates NOTCH signaling;NOTCH3 Intracellular Domain Regulates Transcription;NOTCH4 Intracellular Domain Regulates Transcription PE1 5 +NX_Q92597 Protein NDRG1 394 42835 5.49 0 Cell membrane;Centrosome;Cytosol;Nucleus;Cytoskeleton Charcot-Marie-Tooth disease 4D Stress-responsive protein involved in hormone responses, cell growth, and differentiation. Acts as a tumor suppressor in many cell types. Necessary but not sufficient for p53/TP53-mediated caspase activation and apoptosis. Has a role in cell trafficking, notably of the Schwann cell, and is necessary for the maintenance and development of the peripheral nerve myelin sheath. Required for vesicular recycling of CDH1 and TF. May also function in lipid trafficking. Protects cells from spindle disruption damage. Functions in p53/TP53-dependent mitotic spindle checkpoint. Regulates microtubule dynamics and maintains euploidy. Under stress conditions, phosphorylated in the C-terminal on many serine and threonine residues. Phosphorylated in vitro by PKA. Phosphorylation enhanced by increased intracellular cAMP levels. Homocysteine induces dephosphorylation. Phosphorylation by SGK1 is cell cycle dependent. Belongs to the NDRG family. TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain PE1 8 +NX_Q92598 Heat shock protein 105 kDa 858 96865 5.28 0 Nucleoplasm;Cytoplasm;Cytosol NA Acts as a nucleotide-exchange factor (NEF) for chaperone proteins HSPA1A and HSPA1B, promoting the release of ADP from HSPA1A/B thereby triggering client/substrate protein release (PubMed:24318877). Prevents the aggregation of denatured proteins in cells under severe stress, on which the ATP levels decrease markedly. Inhibits HSPA8/HSC70 ATPase and chaperone activities (By similarity). Phosphorylation on Ser-509 may be important for regulation of the HSPA8/HSC70 chaperone activity. Belongs to the heat shock protein 70 family. Protein processing in endoplasmic reticulum;Regulation of HSF1-mediated heat shock response;Scavenging by Class F Receptors PE1 13 +NX_Q92599 Septin-8 483 55756 5.89 0 Cytoplasm;Presynapse;Synaptic vesicle membrane;Synapse;Axon;Cytoskeleton NA Stabilizes BACE1 protein levels and promotes the sorting and accumulation of BACE1 to the recycling or endosomal compartments, modulating the beta-amyloidogenic processing of APP.;Filament-forming cytoskeletal GTPase (By similarity). May play a role in platelet secretion (PubMed:15116257). Seems to participate in the process of SNARE complex formation in synaptic vesicles (By similarity). NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. NA PE1 5 +NX_Q92600 CCR4-NOT transcription complex subunit 9 299 33631 8.18 0 Cytosol;P-body;Nucleus NA Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Involved in down-regulation of MYB- and JUN-dependent transcription. May play a role in cell differentiation (By similarity). Can bind oligonucleotides, such as poly-G, poly-C or poly-T (in vitro), but the physiological relevance of this is not certain. Does not bind poly-A. Enhances ligand-dependent transcriptional activity of nuclear hormone receptors, including RARA, expect ESR1-mediated transcription that is not only slightly increased, if at all. NA Belongs to the CNOT9 family. RNA degradation;Deadenylation of mRNA;Activation of anterior HOX genes in hindbrain development during early embryogenesis;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 2 +NX_Q92604 Acyl-CoA:lysophosphatidylglycerol acyltransferase 1 370 43089 9.02 2 Endoplasmic reticulum membrane NA Lysophosphatidylglycerol (LPG) specific acyltransferase that recognizes various acyl-CoAs and LPGs as substrates but demonstrates a clear preference for long chain saturated fatty acyl-CoAs and oleoyl-CoA as acyl donors. Prefers oleoyl-LPG over palmitoyl-LPG as an acyl receptor and oleoyl-CoA over lauroyl-CoA as an acyl donor. NA Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. Glycerophospholipid metabolism;Acyl chain remodelling of PG PE1 1 +NX_Q92608 Dedicator of cytokinesis protein 2 1830 211948 6.43 0 Endomembrane system;Cytoskeleton Immunodeficiency 40 Involved in cytoskeletal rearrangements required for lymphocyte migration in response of chemokines. Activates RAC1 and RAC2, but not CDC42, by functioning as a guanine nucleotide exchange factor (GEF), which exchanges bound GDP for free GTP. May also participate in IL2 transcriptional activation via the activation of RAC2. NA Belongs to the DOCK family. Chemokine signaling pathway;Fc gamma R-mediated phagocytosis;Factors involved in megakaryocyte development and platelet production;Nef and signal transduction;Neutrophil degranulation PE1 5 +NX_Q92609 TBC1 domain family member 5 795 89004 6.1 0 Cytoplasmic vesicle;Golgi apparatus;Autophagosome;Endosome membrane NA May act as a GTPase-activating protein (GAP) for Rab family protein(s). May act as a GAP for RAB7A. Can displace RAB7A and retromer CSC subcomplex from the endosomal membrane to the cytosol; at least retromer displacement seems to require its catalytic activity (PubMed:19531583, PubMed:20923837). Required for retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN); the function seems to require its catalytic activity. Involved in regulation of autophagy (PubMed:22354992). May act as a molecular switch between endosomal and autophagosomal transport and is involved in reprogramming vesicle trafficking upon autophagy induction. Involved in the trafficking of ATG9A upon activation of autophagy. May regulate the recruitment of ATG9A-AP2-containing vesicles to autophagic membranes (PubMed:24603492). NA NA NA PE1 3 +NX_Q92610 Zinc finger protein 592 1267 137528 8.1 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 15 +NX_Q92611 ER degradation-enhancing alpha-mannosidase-like protein 1 657 73768 6.45 1 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum membrane NA Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin cycle. It is directly involved in endoplasmic reticulum-associated degradation (ERAD) and targets misfolded glycoproteins for degradation in an N-glycan-independent manner, probably by forming a complex with SEL1L. It has low mannosidase activity, catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2. NA Belongs to the glycosyl hydrolase 47 family. Protein processing in endoplasmic reticulum;XBP1(S) activates chaperone genes;ER Quality Control Compartment (ERQC) PE1 3 +NX_Q92613 Protein Jade-3 823 93808 6.79 0 Nucleoplasm;Nucleolus NA Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. NA Belongs to the JADE family. HATs acetylate histones PE1 X +NX_Q92614 Unconventional myosin-XVIIIa 2054 233115 5.95 0 trans-Golgi network;Golgi apparatus;Cytoplasm;Endoplasmic reticulum-Golgi intermediate compartment;Cell surface;Cytoskeleton NA May link Golgi membranes to the cytoskeleton and participate in the tensile force required for vesicle budding from the Golgi. Thereby, may play a role in Golgi membrane trafficking and could indirectly give its flattened shape to the Golgi apparatus (PubMed:19837035, PubMed:23345592). Alternatively, in concert with LURAP1 and CDC42BPA/CDC42BPB, has been involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). May be involved in the maintenance of the stromal cell architectures required for cell to cell contact (By similarity). Regulates trafficking, expression, and activation of innate immune receptors on macrophages. Plays a role to suppress inflammatory responsiveness of macrophages via a mechanism that modulates CD14 trafficking (PubMed:25965346). Acts as a receptor of surfactant-associated protein A (SFTPA1/SP-A) and plays an important role in internalization and clearance of SFTPA1-opsonized S.aureus by alveolar macrophages (PubMed:16087679, PubMed:21123169). Strongly enhances natural killer cell cytotoxicity (PubMed:27467939). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Signaling by FGFR1 in disease;Signaling by cytosolic FGFR1 fusion mutants PE1 17 +NX_Q92615 La-related protein 4B 738 80552 6.48 0 Cytosol NA Stimulates mRNA translation. NA NA NA PE1 10 +NX_Q92616 eIF-2-alpha kinase activator GCN1 2671 292758 7.29 0 Cytoplasm;Cytosol NA Acts as a positive activator of the EIF2AK4/GCN2 protein kinase activity in response to amino acid starvation. Forms a complex with EIF2AK4/GCN2 on translating ribosomes; during this process, GCN1 seems to act as a chaperone to facilitate delivery of uncharged tRNAs that enter the A site of ribosomes to the tRNA-binding domain of EIF2AK4/GCN2, and hence stimulating EIF2AK4/GCN2 kinase activity. Participates in the repression of global protein synthesis and in gene-specific mRNA translation activation, such as the transcriptional activator ATF4, by promoting the EIF2AK4/GCN2-mediated phosphorylation of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on 'Ser-52', and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion. NA Belongs to the GCN1 family. NA PE1 12 +NX_Q92617 Nuclear pore complex-interacting protein family member B3 1050 116847 10.04 1 Membrane NA NA NA Belongs to the NPIP family. NA PE2 16 +NX_Q92618 Zinc finger protein 516 1163 124289 9.02 0 Nucleoplasm;Cytosol;Nucleus NA Transcriptional regulator that binds to the promoter and activates the transcription of genes promoting brown adipose tissue (BAT) differentiation. Among brown adipose tissue-specific genes, binds the proximal region of the promoter of the UCP1 gene to activate its transcription and thereby regulate thermogenesis (By similarity). May also play a role in the cellular response to replication stress (PubMed:23446422). NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 18 +NX_Q92619 Rho GTPase-activating protein 45 1136 124614 5.76 0 Ruffle membrane;Cytoplasm NA Contains a GTPase activator for the Rho-type GTPases (RhoGAP) domain that would be able to negatively regulate the actin cytoskeleton as well as cell spreading. However, also contains N-terminally a BAR-domin which is able to play an autoinhibitory effect on this RhoGAP activity.;Precursor of the histocompatibility antigen HA-1. More generally, minor histocompatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and its expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocompatibility antigen in HLA-matched sibling marrow transplants. Specifically, mismatching for mHag HA-1 which is recognized as immunodominant, is shown to be associated with the development of severe GVHD after HLA-identical BMT. HA-1 is presented to the cell surface by MHC class I HLA-A*0201, but also by other HLA-A alleles. This complex specifically elicits donor-cytotoxic T-lymphocyte (CTL) reactivity against hematologic malignancies after treatment by HLA-identical allogenic BMT. It induces cell recognition and lysis by CTL. NA NA Rho GTPase cycle;Neutrophil degranulation PE1 19 +NX_Q92620 Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 1227 140503 6.11 0 Nucleoplasm;Nucleus Retinitis pigmentosa 84 Probable ATP-binding RNA helicase (Probable). Involved in pre-mRNA splicing as component of the spliceosome (PubMed:29301961, PubMed:9524131). NA Belongs to the DEAD box helicase family. DEAH subfamily. PRP16 sub-subfamily. Spliceosome;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 16 +NX_Q92621 Nuclear pore complex protein Nup205 2012 227922 5.81 0 Nucleus membrane;Nuclear pore complex Nephrotic syndrome 13 Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540). May anchor NUP62 and other nucleoporins, but not NUP153 and TPR, to the NPC (PubMed:15229283). NA Belongs to the NUP186/NUP192/NUP205 family. RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 7 +NX_Q92622 Run domain Beclin-1-interacting and cysteine-rich domain-containing protein 972 108622 5.86 0 Early endosome;Late endosome;Lysosome;Cytoplasmic vesicle;Cytosol Spinocerebellar ataxia, autosomal recessive, 15 Inhibits PIK3C3 activity; under basal conditions negatively regulates PI3K complex II (PI3KC3-C2) function in autophagy. Negatively regulates endosome maturation and degradative endocytic trafficking and impairs autophagosome maturation process. Can sequester UVRAG from association with a class C Vps complex (possibly the HOPS complex) and negatively regulates Rab7 activation (PubMed:20974968, PubMed:21062745).;Involved in regulation of pathogen-specific host defense of activated macrophages. Following bacterial infection promotes NADH oxidase activity by association with CYBA thereby affecting TLR2 signaling and probably other TLR-NOX pathways. Stabilizes the CYBA:CYBB NADPH oxidase heterodimer, increases its association with TLR2 and its phagosome trafficking to induce antimicrobial burst of ROS and production of inflammatory cytokines (PubMed:22423966). Following fungal or viral infection (implicating CLEC7A (dectin-1)-mediated myeloid cell activation or DDX58/RIG-I-dependent sensing of RNA viruses) negatively regulates pro-inflammatory cytokine production by association with CARD9 and sequestering it from signaling complexes (PubMed:22423967). NA NA NA PE1 3 +NX_Q92623 Tetratricopeptide repeat protein 9A 222 24379 9.13 0 NA NA NA NA Belongs to the TTC9 family. NA PE1 14 +NX_Q92624 Amyloid protein-binding protein 2 585 66853 6.44 0 Membrane;Centriolar satellite;Nucleus;Cytoskeleton NA May play a role in intracellular protein transport. May be involved in the translocation of APP along microtubules toward the cell surface. Rapidly degraded by the proteasome upon overexpression of a C-terminal fragment of APP. NA NA PE1 17 +NX_Q92625 Ankyrin repeat and SAM domain-containing protein 1A 1134 123108 5.93 0 Nucleoplasm;Cytosol;Cytoplasm;Cell projection NA Regulator of different signaling pathways. Regulates EPHA8 receptor tyrosine kinase signaling to control cell migration and neurite retraction (By similarity). Phosphorylated on tyrosine residues in response to EGF and PDGF. NA NA PE1 6 +NX_Q92626 Peroxidasin homolog 1479 165275 6.79 0 Extracellular matrix Anterior segment dysgenesis 7 Displays low peroxidase activity and is likely to participate in H(2)O(2) metabolism and peroxidative reactions in the cardiovascular system. Plays a role in extracellular matrix formation. NA Belongs to the peroxidase family. XPO subfamily. Crosslinking of collagen fibrils PE1 2 +NX_Q92628 Uncharacterized protein KIAA0232 1395 154789 4.71 0 Cytosol NA NA NA NA NA PE1 4 +NX_Q92629 Delta-sarcoglycan 289 32071 9.24 1 Sarcolemma;Cytoskeleton Muscular dystrophy, limb-girdle, autosomal recessive 6;Cardiomyopathy, dilated 1L Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. Disulfide bonds are present.;Glycosylated. Belongs to the sarcoglycan beta/delta/gamma/zeta family. Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Viral myocarditis PE1 5 +NX_Q92630 Dual specificity tyrosine-phosphorylation-regulated kinase 2 601 66652 9.7 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Serine/threonine-protein kinase involved in the regulation of the mitotic cell cycle, cell proliferation, apoptosis, organization of the cytoskeleton and neurite outgrowth. Functions in part via its role in ubiquitin-dependent proteasomal protein degradation. Functions downstream of ATM and phosphorylates p53/TP53 at 'Ser-46', and thereby contributes to the induction of apoptosis in response to DNA damage. Phosphorylates NFATC1, and thereby inhibits its accumulation in the nucleus and its transcription factor activity. Phosphorylates EIF2B5 at 'Ser-544', enabling its subsequent phosphorylation and inhibition by GSK3B. Likewise, phosphorylation of NFATC1, CRMP2/DPYSL2 and CRMP4/DPYSL3 promotes their subsequent phosphorylation by GSK3B. May play a general role in the priming of GSK3 substrates. Inactivates GYS1 by phosphorylation at 'Ser-641', and potentially also a second phosphorylation site, thus regulating glycogen synthesis. Mediates EDVP E3 ligase complex formation and is required for the phosphorylation and subsequent degradation of KATNA1. Phosphorylates TERT at 'Ser-457', promoting TERT ubiquitination by the EDVP complex. Phosphorylates SIAH2, and thereby increases its ubiquitin ligase activity. Promotes the proteasomal degradation of MYC and JUN, and thereby regulates progress through the mitotic cell cycle and cell proliferation. Promotes proteasomal degradation of GLI2 and GLI3, and thereby plays a role in smoothened and sonic hedgehog signaling. Plays a role in cytoskeleton organization and neurite outgrowth via its phosphorylation of DCX and DPYSL2. Phosphorylates CRMP2/DPYSL2, CRMP4/DPYSL3, DCX, EIF2B5, EIF4EBP1, GLI2, GLI3, GYS1, JUN, MDM2, MYC, NFATC1, p53/TP53, TAU/MAPT and KATNA1. Can phosphorylate histone H1, histone H3 and histone H2B (in vitro). Can phosphorylate CARHSP1 (in vitro). Autophosphorylates cotranslationally on the second tyrosine residue in the Tyr-X-Tyr motif in the activation loop, but once mature, does not have any protein tyrosine kinase activity. Phosphorylated at Thr-106 and Ser-442 by ATM in response to genotoxic stress.;Under normal conditions, polyubiquitinated in the nucleus by MDM2, leading to its proteasomal degradation. Phosphorylation on Thr-106 and Ser-442 by ATM in response to genotoxic stress disrupts MDM2 binding and prevents MDM2-mediated ubiquitination and subsequent proteasomal degradation. Polyubiquitinated by SIAH2, leading to its proteasomal degradation. Polyubiquitinated by SIAH2 occurs under normal conditions, and is enhanced in response to hypoxia. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily. Regulation of TP53 Activity through Phosphorylation PE1 12 +NX_Q92633 Lysophosphatidic acid receptor 1 364 41109 8.87 7 Cell surface;Endosome;Nucleus speckle;Cell membrane NA Receptor for lysophosphatidic acid (LPA) (PubMed:9070858, PubMed:19306925, PubMed:25025571, PubMed:26091040). Plays a role in the reorganization of the actin cytoskeleton, cell migration, differentiation and proliferation, and thereby contributes to the responses to tissue damage and infectious agents. Activates downstream signaling cascades via the G(i)/G(o), G(12)/G(13), and G(q) families of heteromeric G proteins. Signaling inhibits adenylyl cyclase activity and decreases cellular cAMP levels (PubMed:26091040). Signaling triggers an increase of cytoplasmic Ca(2+) levels (PubMed:19656035, PubMed:19733258, PubMed:26091040). Activates RALA; this leads to the activation of phospholipase C (PLC) and the formation of inositol 1,4,5-trisphosphate (PubMed:19306925). Signaling mediates activation of down-stream MAP kinases (By similarity). Contributes to the regulation of cell shape. Promotes Rho-dependent reorganization of the actin cytoskeleton in neuronal cells and neurite retraction (PubMed:26091040). Promotes the activation of Rho and the formation of actin stress fibers (PubMed:26091040). Promotes formation of lamellipodia at the leading edge of migrating cells via activation of RAC1 (By similarity). Through its function as lysophosphatidic acid receptor, plays a role in chemotaxis and cell migration, including responses to injury and wounding (PubMed:18066075, PubMed:19656035, PubMed:19733258). Plays a role in triggering inflammation in response to bacterial lipopolysaccharide (LPS) via its interaction with CD14. Promotes cell proliferation in response to lysophosphatidic acid. Required for normal skeleton development. May play a role in osteoblast differentiation. Required for normal brain development. Required for normal proliferation, survival and maturation of newly formed neurons in the adult dentate gyrus. Plays a role in pain perception and in the initiation of neuropathic pain (By similarity). N-glycosylated. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Gap junction;G alpha (i) signalling events;G alpha (q) signalling events;Lysosphingolipid and LPA receptors PE1 9 +NX_Q92636 Protein FAN 917 104372 5.8 0 Nucleolus NA Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE). Specifically binds to the N-smase activation domain of TNF-R55. May regulate ceramide production by N-SMASE. NA NA TNFR1-mediated ceramide production PE1 8 +NX_Q92637 High affinity immunoglobulin gamma Fc receptor IB 280 32232 8.87 1 Cell membrane NA May bind to the Fc region of immunoglobulins gamma with a low affinity compared to FCGR1A. May function in the humoral immune response. NA Belongs to the immunoglobulin superfamily. FCGR1 family. Cross-presentation of soluble exogenous antigens (endosomes);Interferon gamma signaling PE1 1 +NX_Q92643 GPI-anchor transamidase 395 45252 5.76 1 Endoplasmic reticulum membrane NA Mediates GPI anchoring in the endoplasmic reticulum, by replacing a protein's C-terminal GPI attachment signal peptide with a pre-assembled GPI. During this transamidation reaction, the GPI transamidase forms a carbonyl intermediate with the substrate protein. The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity. Belongs to the peptidase C13 family. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Attachment of GPI anchor to uPAR PE1 1 +NX_Q92664 Transcription factor IIIA 365 41515 9.34 0 Nucleoplasm;Nucleus NA Involved in ribosomal large subunit biogenesis. Binds the approximately 50 base pairs internal control region (ICR) of 5S ribosomal RNA genes. It is required for their RNA polymerase III-dependent transcription and may also maintain the transcription of other genes (PubMed:24120868). Also binds the transcribed 5S RNA's (By similarity). NA NA RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter PE1 13 +NX_Q92665 28S ribosomal protein S31, mitochondrial 395 45318 9.32 0 Mitochondrion;Nucleolus NA NA NA Belongs to the mitochondrion-specific ribosomal protein mS31 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 13 +NX_Q92667 A-kinase anchor protein 1, mitochondrial 903 97342 4.84 0 Mitochondrion outer membrane;Mitochondrion NA Binds to type I and II regulatory subunits of protein kinase A and anchors them to the cytoplasmic face of the mitochondrial outer membrane. NA NA Factors involved in megakaryocyte development and platelet production;Mitochondrial calcium ion transport PE1 17 +NX_Q92670 Putative zinc finger protein 75C 426 49753 9.07 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE5 11 +NX_Q92673 Sortilin-related receptor 2214 248426 5.32 1 Endoplasmic reticulum membrane;Endosome membrane;Cell membrane;trans-Golgi network membrane;Secreted;Secretory vesicle membrane;Recycling endosome membrane;Golgi apparatus membrane;Early endosome membrane;Multivesicular body membrane Alzheimer disease Sorting receptor that directs several proteins to their correct location within the cell (Probable). Along with AP-1 complex, involved Golgi apparatus - endosome sorting (PubMed:17646382). Sorting receptor for APP, regulating its intracellular trafficking and processing into amyloidogenic-beta peptides. Retains APP in the trans-Golgi network, hence preventing its transit through late endosomes where amyloid beta peptides Abeta40 and Abeta42 are generated (PubMed:16174740, PubMed:16407538, PubMed:17855360, PubMed:24523320). May also sort newly produced amyloid-beta peptides to lysosomes for catabolism (PubMed:24523320). Does not affect APP trafficking from the endoplasmic reticulum to Golgi compartments (PubMed:17855360). Sorting receptor for the BDNF receptor NTRK2/TRKB that facilitates NTRK2 trafficking between synaptic plasma membranes, postsynaptic densities and cell soma, hence positively regulates BDNF signaling by controlling the intracellular location of its receptor (PubMed:23977241). Sorting receptor for GDNF that promotes GDNF regulated, but not constitutive secretion (PubMed:21994944). Sorting receptor for the GDNF-GFRA1 complex, directing it from the cell surface to endosomes. GDNF is then targeted to lysosomes and degraded, while its receptor GFRA1 recycles back to the cell membrane, resulting in a GDNF clearance pathway. The SORL1-GFRA1 complex further targets RET for endocytosis, but not for degradation, affecting GDNF-induced neurotrophic activities (PubMed:23333276). Sorting receptor for ERBB2/HER2. Regulates ERBB2 subcellular distribution by promoting its recycling after internalization from endosomes back to the plasma membrane, hence stimulating phosphoinositide 3-kinase (PI3K)-dependent ERBB2 signaling. In ERBB2-dependent cancer cells, promotes cell proliferation (PubMed:31138794). Sorting receptor for lipoprotein lipase LPL. Promotes LPL localization to endosomes and later to the lysosomes, leading to degradation of newly synthesized LPL (PubMed:21385844). Potential sorting receptor for APOA5, inducing APOA5 internalization to early endosomes, then to late endosomes, wherefrom a portion is sent to lysosomes and degradation, another portion is sorted to the trans-Golgi network (PubMed:18603531). Sorting receptor for the insulin receptor INSR. Promotes recycling of internalized INSR via the Golgi apparatus back to the cell surface, thereby preventing lysosomal INSR catabolism, increasing INSR cell surface expression and strengthening insulin signal reception in adipose tissue. Does not affect INSR internalization (PubMed:27322061). Plays a role in renal ion homeostasis, controlling the phospho-regulation of SLC12A1/NKCC2 by STK39/SPAK kinase and PPP3CB/calcineurin A beta phosphatase, possibly through intracellular sorting of STK39 and PPP3CB (By similarity). Stimulates, via the N-terminal ectodomain, the proliferation and migration of smooth muscle cells, possibly by increasing cell surface expression of the urokinase receptor uPAR/PLAUR. This may promote extracellular matrix proteolysis and hence facilitate cell migration (PubMed:14764453). By acting on the migration of intimal smooth muscle cells, may accelerate intimal thickening following vascular injury (PubMed:14764453). Promotes adhesion of monocytes (PubMed:23486467). Stimulates proliferation and migration of monocytes/macrophages (By similarity). Through its action on intimal smooth muscle cells and macrophages, may accelerate intimal thickening and macrophage foam cell formation in the process of atherosclerosis (By similarity). Regulates hypoxia-enhanced adhesion of hematopoietic stem and progenitor cells to the bone marrow stromal cells via a PLAUR-mediated pathway. This function is mediated by the N-terminal ectodomain (PubMed:23486467). Metabolic regulator, which functions to maintain the adequate balance between lipid storage and oxidation in response to changing environmental conditions, such as temperature and diet. The N-terminal ectodomain negatively regulates adipose tissue energy expenditure, acting through the inhibition the BMP/Smad pathway (By similarity). May regulate signaling by the heterodimeric neurotrophic cytokine CLCF1-CRLF1 bound to the CNTFR receptor by promoting the endocytosis of the tripartite complex CLCF1-CRLF1-CNTFR and lysosomal degradation (PubMed:26858303). May regulate IL6 signaling, decreasing cis signaling, possibly by interfering with IL6-binding to membrane-bound IL6R, while up-regulating trans signaling via soluble IL6R (PubMed:28265003). Within the Golgi apparatus, the propeptide may be cleaved off by FURIN or a furin-like protease (Probable). After cleavage, the propeptide interacts with the mature protein N-terminus, preventing the association with other ligands (PubMed:11294867). At the cell surface, partially subjected to proteolytic shedding that releases the ectodomain in the extracellular milieu (PubMed:11082041, PubMed:16393139, PubMed:16531402, PubMed:28265003). The shedding may be catalyzed by ADAM17/TACE (PubMed:16393139, PubMed:16531402). Following shedding, PSEN1/presenilin-1 cleaves the remaining transmembrane fragment and catalyzes the release of a C-terminal fragment in the cytosol and of a soluble N-terminal beta fragment in the extracellular milieu. The C-terminal cytosolic fragment localizes to the nucleus (PubMed:16531402).;Phosphorylation at Ser-2206 facilitates the interaction with GGA1.;SORL1 is phosphorylated by ROCK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the VPS10-related sortilin family. SORL1 subfamily. Amyloid fiber formation PE1 11 +NX_Q92674 Centromere protein I 756 86720 8.98 0 Centromere;Nucleus;Cytosol NA Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Required for the localization of CENPF, MAD1L1 and MAD2 (MAD2L1 or MAD2L2) to kinetochores. Involved in the response of gonadal tissues to follicle-stimulating hormone. Sumoylated. Sumoylated form can be polyubiquitinated by RNF4, leading to its degradation. Desumoylation by SENP6 prevents its degradation. Belongs to the CENP-I/CTF3 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Deposition of new CENPA-containing nucleosomes at the centromere;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 X +NX_Q92681 Regulatory solute carrier protein family 1 member 1 617 66790 4.78 0 trans-Golgi network;Cell membrane;Cell junction;Nucleoplasm;Nucleus NA Mediates transcriptional and post-transcriptional regulation of SLC5A1. Inhibits a dynamin and PKC-dependent exocytotic pathway of SLC5A1. Also involved in transcriptional regulation of SLC22A2. Exhibits glucose-dependent, short-term inhibition of SLC5A1 and SLC22A2 by inhibiting the release of vesicles from the trans-Golgi network. NA NA Organic cation transport;Intestinal hexose absorption PE1 1 +NX_Q92685 Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase 438 50126 9.56 11 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1D Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol. NA Belongs to the glycosyltransferase 58 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein;Defective ALG3 causes ALG3-CDG (CDG-1d) PE1 3 +NX_Q92686 Neurogranin 78 7618 7.72 0 NA NA Acts as a 'third messenger' substrate of protein kinase C-mediated molecular cascades during synaptic development and remodeling. Binds to calmodulin in the absence of calcium (By similarity). Phosphorylated at Ser-36 by PHK and PKC, phosphorylation prevents interaction with Calmodulin and interrupts several learning- and memory-associated functions. Belongs to the neurogranin family. Long-term potentiation PE1 11 +NX_Q92688 Acidic leucine-rich nuclear phosphoprotein 32 family member B 251 28788 3.94 0 Cytoplasm;Nucleus NA Multifunctional protein working as a cell cycle progression factor as well as a cell survival factor. Required for the progression from the G1 to the S phase. Anti-apoptotic protein which functions as a caspase-3 inhibitor. Has no phosphatase 2A (PP2A) inhibitor activity (By similarity). Exhibits histone chaperone properties, stimulating core histones to assemble into a nucleosome. Some glutamate residues are glycylated by TTLL8. This modification occurs exclusively on glutamate residues and results in a glycine chain on the gamma-carboxyl group (By similarity). Belongs to the ANP32 family. NA PE1 9 +NX_Q92692 Nectin-2 538 57742 4.74 1 Cell junction;Nucleolus;Cell membrane NA Modulator of T-cell signaling. Can be either a costimulator of T-cell function, or a coinhibitor, depending on the receptor it binds to. Upon binding to CD226, stimulates T-cell proliferation and cytokine production, including that of IL2, IL5, IL10, IL13, and IFNG. Upon interaction with PVRIG, inhibits T-cell proliferation. These interactions are competitive (PubMed:26755705). Probable cell adhesion protein (PubMed:9657005).;(Microbial infection) Acts as a receptor for herpes simplex virus 1 (HHV-1) mutant Rid1, herpes simplex virus 1 (HHV-2) and pseudorabies virus (PRV). NA Belongs to the nectin family. Cell adhesion molecules (CAMs);Adherens junction;Herpes simplex infection;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adherens junctions interactions;Nectin/Necl trans heterodimerization PE1 19 +NX_Q92696 Geranylgeranyl transferase type-2 subunit alpha 567 65072 5.45 0 Nucleoplasm NA Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of Rab proteins with the C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A, RAB3A, RAB5A and RAB7A. NA Belongs to the protein prenyltransferase subunit alpha family. TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain;RAB geranylgeranylation PE1 14 +NX_Q92698 DNA repair and recombination protein RAD54-like 747 84352 8.85 0 Nucleoplasm;Nucleus NA Involved in DNA repair and mitotic recombination. Functions in the recombinational DNA repair (RAD52) pathway. Dissociates RAD51 from nucleoprotein filaments formed on dsDNA. Could be involved in the turnover of RAD51 protein-dsDNA filaments (By similarity). May play also an essential role in telomere length maintenance and telomere capping in mammalian cells. NA Belongs to the SNF2/RAD54 helicase family. Homologous recombination PE1 1 +NX_Q92729 Receptor-type tyrosine-protein phosphatase U 1446 162423 6.46 1 Cell junction;Cell membrane NA Tyrosine-protein phosphatase which dephosphorylates CTNNB1. Regulates CTNNB1 function both in cell adhesion and signaling. May function in cell proliferation and migration and play a role in the maintenance of epithelial integrity. May play a role in megakaryocytopoiesis. The extracellular domain is proteolytically processed through cleavage within the fibronectin type-III 4 domain (By similarity). In addition to the 190 kDa full-length protein, proteolytic products of 100 kDa, 80 kDa and 73 kDa are observed.;N-glycosylated.;Phosphorylated on tyrosine residues upon activation of KIT with stem cell factor (SCF). The 73 kDa proteolytic product is not phosphorylated. Belongs to the protein-tyrosine phosphatase family. Receptor class 2B subfamily. Signaling by SCF-KIT PE1 1 +NX_Q92730 Rho-related GTP-binding protein Rho6 232 26056 8.24 0 Cytoplasmic vesicle;Cytoskeleton;Cell membrane NA Lacks intrinsic GTPase activity. Has a low affinity for GDP, and constitutively binds GTP. Controls rearrangements of the actin cytoskeleton. Induces the Rac-dependent neuritic process formation in part by disruption of the cortical actin filaments. Causes the formation of many neuritic processes from the cell body with disruption of the cortical actin filaments. NA Belongs to the small GTPase superfamily. Rho family. Axon guidance;SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion;Sema4D mediated inhibition of cell attachment and migration;Sema4D induced cell migration and growth-cone collapse PE1 12 +NX_Q92731 Estrogen receptor beta 530 59216 8.81 0 Nucleus Ovarian dysgenesis 8 Nuclear hormone receptor. Binds estrogens with an affinity similar to that of ESR1, and activates expression of reporter genes containing estrogen response elements (ERE) in an estrogen-dependent manner (PubMed:20074560). Phosphorylation at Ser-87 and Ser-105 recruits NCOA1.;ESR2 is phosphorylated by MAPK11 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the nuclear hormone receptor family. NR3 subfamily. PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Nuclear Receptor transcription pathway;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;ESR-mediated signaling;Extra-nuclear estrogen signaling PE1 14 +NX_Q92733 Proline-rich protein PRCC 491 52418 5.02 0 Nucleus speckle;Nucleus NA May regulate cell cycle progression through interaction with MAD2L2. NA NA mRNA Splicing - Major Pathway PE1 1 +NX_Q92734 Protein TFG 400 43448 4.94 0 Endoplasmic reticulum;Cytoplasmic vesicle;Cytosol Neuropathy, hereditary motor and sensory, Okinawa type;Spastic paraplegia 57, autosomal recessive Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules (PubMed:23479643, PubMed:27813252). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:21478858). NA NA Pathways in cancer;Thyroid cancer;COPII-mediated vesicle transport PE1 3 +NX_Q92736 Ryanodine receptor 2 4967 564567 5.73 6 Cell membrane;Membrane;Sarcoplasmic reticulum;Nucleoplasm;Cytosol;Sarcoplasmic reticulum membrane Arrhythmogenic right ventricular dysplasia, familial, 2;Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development. Phosphorylation at Ser-2031 by PKA enhances the response to lumenal calcium.;Channel activity is modulated by phosphorylation. Phosphorylation at Ser-2808 and Ser-2814 increases the open probability of the calcium channel. Phosphorylation is increased in failing heart, leading to calcium leaks and increased cytoplasmic Ca(2+) levels.;RYR2 is phosphorylated by CAMK2A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR2 subfamily. Calcium signaling pathway;Cardiac muscle contraction;Pancreatic secretion;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Stimuli-sensing channels;Ion homeostasis PE1 1 +NX_Q92737 Ras-like protein family member 10A 203 22541 9.79 0 Nucleolus;Cell membrane NA Potent inhibitor of cellular proliferation. Isoprenylation is essential for nucleolar localization, and the proliferation-inhibiting activity of RASL10A. Belongs to the small GTPase superfamily. Ras family. NA PE1 22 +NX_Q92738 USP6 N-terminal-like protein 828 94104 9.1 0 Golgi apparatus;Cytoplasmic vesicle NA Acts as a GTPase-activating protein for RAB5A and RAB43. Involved in receptor trafficking. In complex with EPS8 inhibits internalization of EGFR. Involved in retrograde transport from the endocytic pathway to the Golgi apparatus. Involved in the transport of Shiga toxin from early and recycling endosomes to the trans-Golgi network. Required for structural integrity of the Golgi complex. NA NA Retrograde transport at the Trans-Golgi-Network PE1 10 +NX_Q92743 Serine protease HTRA1 480 51287 8.09 0 Cytosol;Secreted;Cell membrane Macular degeneration, age-related, 7;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2;Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy Serine protease with a variety of targets, including extracellular matrix proteins such as fibronectin. HTRA1-generated fibronectin fragments further induce synovial cells to up-regulate MMP1 and MMP3 production. May also degrade proteoglycans, such as aggrecan, decorin and fibromodulin. Through cleavage of proteoglycans, may release soluble FGF-glycosaminoglycan complexes that promote the range and intensity of FGF signals in the extracellular space. Regulates the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. Inhibits signaling mediated by TGF-beta family members. This activity requires the integrity of the catalytic site, although it is unclear whether TGF-beta proteins are themselves degraded. By acting on TGF-beta signaling, may regulate many physiological processes, including retinal angiogenesis and neuronal survival and maturation during development. Intracellularly, degrades TSC2, leading to the activation of TSC2 downstream targets. NA Belongs to the peptidase S1C family. Degradation of the extracellular matrix PE1 10 +NX_Q92747 Actin-related protein 2/3 complex subunit 1A 370 41569 8.46 0 Cell membrane;Cell junction;Cytosol;Nucleus;Cytoskeleton NA Probably functions as component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. NA Belongs to the WD repeat ARPC1 family. Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Pathogenic Escherichia coli infection;Shigellosis;Salmonella infection;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;EPHB-mediated forward signaling;Clathrin-mediated endocytosis PE1 7 +NX_Q92748 Thyroid hormone-inducible hepatic protein 146 16561 4.79 0 Cytoplasm;Nucleoplasm;Nucleus NA Plays a role in the regulation of lipogenesis, especially in lactating mammary gland. Important for the biosynthesis of triglycerides with medium-length fatty acid chains. May modulate lipogenesis by interacting with MID1IP1 and preventing its interaction with ACACA (By similarity). May function as transcriptional coactivator. May modulate the transcription factor activity of THRB. NA Belongs to the SPOT14 family. Import of palmitoyl-CoA into the mitochondrial matrix PE1 11 +NX_Q92750 Transcription initiation factor TFIID subunit 4B 862 91091 9.59 0 Nucleus;Cytoplasm;Nucleoplasm;Nucleolus Spermatogenic failure 13 Cell type-specific subunit of the general transcription factor TFIID that may function as a gene-selective coactivator in certain cells. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. TAF4B is a transcriptional coactivator of the p65/RELA NF-kappa-B subunit. Involved in the activation of a subset of antiapoptotic genes including TNFAIP3. May be involved in regulating folliculogenesis. Through interaction with OCBA/POU2AF1, acts as a coactivator of B-cell-specific transcription. Plays a role in spermiogenesis and oogenesis. Under stimulation by forskolin, Isoform 1 is phosphorylated by protein kinase A (PKA). Belongs to the TAF4 family. Basal transcription factors;Huntington's disease;Herpes simplex infection;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;Regulation of TP53 Activity through Phosphorylation PE1 18 +NX_Q92752 Tenascin-R 1358 149562 4.71 0 Extracellular matrix NA Neural extracellular matrix (ECM) protein involved in interactions with different cells and matrix components. These interactions can influence cellular behavior by either evoking a stable adhesion and differentiation, or repulsion and inhibition of neurite growth. Binding to cell surface gangliosides inhibits RGD-dependent integrin-mediated cell adhesion and results in an inhibition of PTK2/FAK1 (FAK) phosphorylation and cell detachment. Binding to membrane surface sulfatides results in a oligodendrocyte adhesion and differentiation. Interaction with CNTN1 induces a repulsion of neurons and an inhibition of neurite outgrowth. Interacts with SCN2B may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier. TNR-linked chondroitin sulfate glycosaminoglycans are involved in the interaction with FN1 and mediate inhibition of cell adhesion and neurite outgrowth. The highly regulated addition of sulfated carbohydrate structure may modulate the adhesive properties of TNR over the course of development and during synapse maintenance (By similarity). Contains N-linked oligosaccharides, O-linked sialylated structures and O-linked chondroitin sulfate glycosaminoglycans. Contains N-linked oligosaccharides with a sulfated carbohydrate structure (By similarity). O-glycosylated on Thr-36 or Thr-37 with a core 1 or possibly core 8 glycan. Belongs to the tenascin family. Focal adhesion;ECM-receptor interaction;ECM proteoglycans PE1 1 +NX_Q92753 Nuclear receptor ROR-beta 470 53220 7.78 0 Nucleoplasm Epilepsy, idiopathic generalized 15 Is critical for hindlimb motor control and for the differentiation of amacrine and horizontal cells in the retina. Regulates the expression of PTF1A synergistically with FOXN4 (By similarity).;Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Considered to have intrinsic transcriptional activity, have some natural ligands such as all-trans retinoic acid (ATRA) and other retinoids which act as inverse agonists repressing the transcriptional activity. Required for normal postnatal development of rod and cone photoreceptor cells. Modulates rod photoreceptors differentiation at least by inducing the transcription factor NRL-mediated pathway. In cone photoreceptor cells, regulates transcription of OPN1SW. Involved in the regulation of the period length and stability of the circadian rhythm. May control cytoarchitectural patterning of neocortical neurons during development. May act in a dose-dependent manner to regulate barrel formation upon innervation of layer IV neurons by thalamocortical axons. May play a role in the suppression of osteoblastic differentiation through the inhibition of RUNX2 transcriptional activity (By similarity). NA Belongs to the nuclear hormone receptor family. NR1 subfamily. Circadian rhythm - mammal;Nuclear Receptor transcription pathway PE1 9 +NX_Q92754 Transcription factor AP-2 gamma 450 49177 7.72 0 Nucleoplasm;Nucleus NA Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. Sumoylated on Lys-10; which inhibits transcriptional activity. Belongs to the AP-2 family. SUMOylation of transcription factors;Activation of the TFAP2 (AP-2) family of transcription factors;TFAP2 (AP-2) family regulates transcription of other transcription factors;TFAP2 (AP-2) family regulates transcription of growth factors and their receptors;TFAP2 (AP-2) family regulates transcription of cell cycle factors;Negative regulation of activity of TFAP2 (AP-2) family transcription factors PE1 20 +NX_Q92759 General transcription factor IIH subunit 4 462 52186 9.12 0 Nucleus speckle;Nucleus NA Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. NA Belongs to the TFB2 family. Basal transcription factors;Nucleotide excision repair;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;mRNA Capping;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;RNA Pol II CTD phosphorylation and interaction with CE during HIV infection;Tat-mediated elongation of the HIV-1 transcript;RNA Polymerase II Transcription Elongation;RNA Pol II CTD phosphorylation and interaction with CE;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER;TP53 Regulates Transcription of DNA Repair Genes PE1 6 +NX_Q92764 Keratin, type I cuticular Ha5 455 50361 4.85 0 NA NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_Q92765 Secreted frizzled-related protein 3 325 36254 8.82 0 Secreted Osteoarthritis 1 Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP3/FRZB appears to be involved in limb skeletogenesis. Antagonist of Wnt8 signaling. Regulates chondrocyte maturation and long bone development. NA Belongs to the secreted frizzled-related protein (sFRP) family. NA PE1 2 +NX_Q92766 Ras-responsive element-binding protein 1 1687 181420 6.54 0 Nucleus speckle;Nucleolus NA Transcription factor that binds specifically to the RAS-responsive elements (RRE) of gene promoters. May be involved in Ras/Raf-mediated cell differentiation by enhancing calcitonin expression. Represses the angiotensinogen gene. Negatively regulates the transcriptional activity of AR. Potentiates the transcriptional activity of NEUROD1. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 6 +NX_Q92769 Histone deacetylase 2 488 55364 5.59 0 Cytoplasm;Nucleoplasm;Nucleus NA Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Forms transcriptional repressor complexes by associating with MAD, SIN3, YY1 and N-COR. Interacts in the late S-phase of DNA-replication with DNMT1 in the other transcriptional repressor complex composed of DNMT1, DMAP1, PCNA, CAF1. Deacetylates TSHZ3 and regulates its transcriptional repressor activity. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. May be involved in the transcriptional repression of circadian target genes, such as PER1, mediated by CRY1 through histone deacetylation. Involved in MTA1-mediated transcriptional corepression of TFF1 and CDKN1A. S-nitrosylated by GAPDH. In neurons, S-Nitrosylation at Cys-262 and Cys-274 does not affect the enzyme activity but abolishes chromatin-binding, leading to increases acetylation of histones and activate genes that are associated with neuronal development. In embryonic cortical neurons, S-Nitrosylation regulates dendritic growth and branching. Belongs to the histone deacetylase family. HD type 1 subfamily. Cell cycle;Notch signaling pathway;Huntington's disease;Pathways in cancer;Chronic myeloid leukemia;Factors involved in megakaryocyte development and platelet production;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;HDACs deacetylate histones;Notch-HLH transcription pathway;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;p75NTR negatively regulates cell cycle via SC1;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Regulation of TP53 Activity through Acetylation;SUMOylation of chromatin organization proteins;Regulation of PTEN gene transcription;Regulation of MECP2 expression and activity;MECP2 regulates neuronal receptors and channels;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 6 +NX_Q92771 Putative ATP-dependent RNA helicase DDX12 950 106006 8.57 0 Nucleus NA DNA helicase involved in cellular proliferation. Probably required for maintaining the chromosome segregation (By similarity). NA Belongs to the DEAD box helicase family. DEAH subfamily. DDX11/CHL1 sub-subfamily. NA PE5 12 +NX_Q92772 Cyclin-dependent kinase-like 2 493 56019 8.45 0 Nucleoplasm;Cytoplasm;Centrosome;Nucleus NA NA NA Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. NA PE1 4 +NX_Q92777 Synapsin-2 582 62996 8.58 0 Nucleoplasm;Synapse Schizophrenia Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function in the regulation of neurotransmitter release. May play a role in noradrenaline secretion by sympathetic neurons (By similarity). Phosphorylation at Ser-10 dissociates synapsins from synaptic vesicles. Phosphorylation at Ser-425 by MAPK1/ERK2 and/or MAPK3/ERK1 may play a role in noradrenaline secretion by sympathetic neurons (By similarity). Belongs to the synapsin family. Serotonin Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle PE1 3 +NX_Q92781 Retinol dehydrogenase 5 318 34979 9.47 2 Cytoplasmic vesicle;Endoplasmic reticulum membrane Fundus albipunctatus Catalyzes the oxidation of cis-isomers of retinol, including 11-cis-, 9-cis-, and 13-cis-retinol in an NAD-dependent manner (PubMed:11675386, PubMed:10588954, PubMed:9931293, PubMed:9115228). Has no activity towards all-trans retinal (By similarity). Plays a significant role in 11-cis retinol oxidation in the retinal pigment epithelium cells (RPE). Also recognizes steroids (androsterone, androstanediol) as its substrates (PubMed:9931293, PubMed:29541409). NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Cofactor metabolism; retinol metabolism.;Retinol metabolism;The canonical retinoid cycle in rods (twilight vision);RA biosynthesis pathway;Retinoid cycle disease events PE1 12 +NX_Q92782 Zinc finger protein neuro-d4 380 42502 6.47 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cytosol;Nucleus NA May have an important role in developing neurons by participating in regulation of cell survival, possibly as a neurospecific transcription factor. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). NA Belongs to the requiem/DPF family. NA PE1 19 +NX_Q92783 Signal transducing adapter molecule 1 540 59180 4.7 0 Early endosome membrane;Cytoplasm;Cytoplasmic vesicle NA Involved in intracellular signal transduction mediated by cytokines and growth factors. Upon IL-2 and GM-CSL stimulation, it plays a role in signaling leading to DNA synthesis and MYC induction. May also play a role in T-cell development. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with HGS (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes. Phosphorylated on Tyr-198. Phosphorylated in response to IL2, IL3, IL4, IL7, CSF2/GM-CSF, EGF and PDGFB. Phosphorylated by activated PDGFRB.;Ubiquitinated by ITCH. Belongs to the STAM family. Endocytosis;Jak-STAT signaling pathway;Endosomal Sorting Complex Required For Transport (ESCRT);EGFR downregulation;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Metalloprotease DUBs;Negative regulation of MET activity;InlB-mediated entry of Listeria monocytogenes into host cell PE1 10 +NX_Q92784 Zinc finger protein DPF3 378 43084 6.01 0 Nucleoplasm;Nucleus NA Belongs to the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Muscle-specific component of the BAF complex, a multiprotein complex involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Specifically binds acetylated lysines on histone 3 and 4 (H3K14ac, H3K9ac, H4K5ac, H4K8ac, H4K12ac, H4K16ac). In the complex, it acts as a tissue-specific anchor between histone acetylations and methylations and chromatin remodeling. It thereby probably plays an essential role in heart and skeletal muscle development. NA Belongs to the requiem/DPF family. NA PE1 14 +NX_Q92785 Zinc finger protein ubi-d4 391 44155 5.94 0 Cytoplasm;Nucleoplasm;Nucleus Coffin-Siris syndrome 7 Plays an active role in transcriptional regulation by binding modified histones H3 and H4 (PubMed:28533407, PubMed:27775714). Is a negative regulator of myeloid differentiation of hematopoietic progenitor cells (PubMed:28533407). Might also have a role in the development and maturation of lymphoid cells (By similarity). Involved in the regulation of non-canonical NF-kappa-B pathway (PubMed:20460684). NA Belongs to the requiem/DPF family. NA PE1 11 +NX_Q92786 Prospero homeobox protein 1 737 83203 6.74 0 Nucleoplasm;Cytosol;Nucleus NA Transcription factor involved in developmental processes such as cell fate determination, gene transcriptional regulation and progenitor cell regulation in a number of organs. Plays a critical role in embryonic development and functions as a key regulatory protein in neurogenesis and the development of the heart, eye lens, liver, pancreas and the lymphatic system. Involved in the regulation of the circadian rhythm. Represses: transcription of the retinoid-related orphan receptor RORG, transcriptional activator activity of RORA and RORG and the expression of RORA/G-target genes including core clock components: ARNTL/BMAL1, NPAS2 and CRY1 and metabolic genes: AVPR1A and ELOVL3. NA Belongs to the Prospero homeodomain family. NA PE1 1 +NX_Q92791 Endoplasmic reticulum protein SC65 437 50381 4.68 0 Endoplasmic reticulum NA Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linking of collagen fibrils. Required for normal bone density and normal skin stability via its role in hydroxylation of lysine residues in collagen alpha chains and in collagen fibril assembly. NA Belongs to the leprecan family. NA PE1 17 +NX_Q92793 CREB-binding protein 2442 265351 8.83 0 Cytoplasm;Nucleoplasm;Nucleus Menke-Hennekam syndrome 1;Rubinstein-Taybi syndrome 1 Acetylates histones, giving a specific tag for transcriptional activation. Also acetylates non-histone proteins, like NCOA3 and FOXO1. Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers. Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway (PubMed:25514493). Methylation of the KIX domain by CARM1 blocks association with CREB. This results in the blockade of CREB signaling, and in activation of apoptotic response (By similarity).;Autoacetylation is required for binding to protein substrates, such as acetylated histones and acetylated TP53/p53.;Sumoylation negatively regulates transcriptional activity via the recruitment of DAAX.;Phosphorylated by CHUK/IKKA at Ser-1382 and Ser-1386; these phosphorylations promote cell growth by switching the binding preference of CREBBP from TP53 to NF-kappa-B.;CREBBP is phosphorylated by NLK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Cell cycle;Wnt signaling pathway;Notch signaling pathway;TGF-beta signaling pathway;Adherens junction;Jak-STAT signaling pathway;Long-term potentiation;Melanogenesis;Huntington's disease;Tuberculosis;Influenza A;HTLV-I infection;Herpes simplex infection;Pathways in cancer;Renal cell carcinoma;Prostate cancer;HATs acetylate histones;PPARA activates gene expression;Formation of the beta-catenin:TCF transactivating complex;TRAF6 mediated IRF7 activation;Pre-NOTCH Transcription and Translation;Notch-HLH transcription pathway;Regulation of gene expression by Hypoxia-inducible Factor;RORA activates gene expression;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;Attenuation phase;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activation of gene expression by SREBF (SREBP);Transcriptional regulation of white adipocyte differentiation;Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells;TRAF3-dependent IRF activation pathway;CD209 (DC-SIGN) signaling;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;Activation of anterior HOX genes in hindbrain development during early embryogenesis;Activation of the TFAP2 (AP-2) family of transcription factors;RUNX3 regulates NOTCH signaling;RUNX1 regulates transcription of genes involved in differentiation of myeloid cells;NOTCH3 Intracellular Domain Regulates Transcription;Estrogen-dependent gene expression;SUMOylation of transcription cofactors;NOTCH4 Intracellular Domain Regulates Transcription;FOXO-mediated transcription of cell death genes;Regulation of FOXO transcriptional activity by acetylation PE1 16 +NX_Q92794 Histone acetyltransferase KAT6A 2004 225028 5.5 0 Nucleus speckle;Nucleolus;Nucleoplasm;PML body;Cytosol;Nucleus Mental retardation, autosomal dominant 32 Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2. Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controls its transcriptional activity via association with PML. Phosphorylation at Thr-369 by PKB/AKT1 inhibits its interaction with PML and negatively regulates its acetylation activity towards p53/TP53.;Autoacetylation at Lys-604 is required for proper function (By similarity). Autoacetylated. Belongs to the MYST (SAS/MOZ) family. HATs acetylate histones;Regulation of TP53 Activity through Acetylation PE1 8 +NX_Q92796 Disks large homolog 3 817 90314 6.56 0 Nucleoplasm;Nucleolus Mental retardation, X-linked 90 Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling. NA Belongs to the MAGUK family. RAF/MAP kinase cascade;Unblocking of NMDA receptors, glutamate binding and activation;Ras activation upon Ca2+ influx through NMDA receptor;NrCAM interactions;Activation of Ca-permeable Kainate Receptor;Synaptic adhesion-like molecules;Neurexins and neuroligins;Assembly and cell surface presentation of NMDA receptors;Negative regulation of NMDA receptor-mediated neuronal transmission;Long-term potentiation PE1 X +NX_Q92797 Symplekin 1274 141148 5.82 0 Cell membrane;Cell junction;Nucleoplasm;Tight junction;Cytosol;Cytoskeleton NA Scaffold protein that functions as a component of a multimolecular complex involved in histone mRNA 3'-end processing. Specific component of the tight junction (TJ) plaque, but might not be an exclusively junctional component. May have a house-keeping rule. Is involved in pre-mRNA polyadenylation. Enhances SSU72 phosphatase activity. NA Belongs to the Symplekin family. mRNA surveillance pathway;Tight junction;Transport of Mature mRNA Derived from an Intronless Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Processing of Intronless Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 19 +NX_Q92800 Histone-lysine N-methyltransferase EZH1 747 85271 8.01 0 Nucleoplasm;Nucleus NA Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH1 complex, which methylates 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Required for embryonic stem cell derivation and self-renewal, suggesting that it is involved in safeguarding embryonic stem cell identity. Compared to EZH2-containing complexes, it is less abundant in embryonic stem cells, has weak methyltransferase activity and plays a less critical role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. EZ subfamily. NA PE1 17 +NX_Q92802 NEDD4-binding protein 2-like 2 583 67459 5.96 0 Nucleoplasm NA NA NA NA NA PE1 13 +NX_Q92804 TATA-binding protein-associated factor 2N 592 61830 8.04 0 Nucleoplasm;Cytoplasm;Nucleus NA RNA and ssDNA-binding protein that may play specific roles during transcription initiation at distinct promoters. Can enter the preinitiation complex together with the RNA polymerase II (Pol II). Dimethylated by PRMT1 at Arg-206 to asymmetric dimethylarginine. The methylation may favor nuclear localization and positive regulation of TAF15 transcriptional activity.;ADP-ribosylated during genotoxic stress. Belongs to the RRM TET family. Basal transcription factors;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;Regulation of TP53 Activity through Phosphorylation PE1 17 +NX_Q92805 Golgin subfamily A member 1 767 88184 5.24 0 Golgi apparatus;trans-Golgi network membrane;Acrosome;Golgi apparatus membrane NA Involved in vesicular trafficking at the Golgi apparatus level. Involved in endosome-to-Golgi trafficking. NA NA Retrograde transport at the Trans-Golgi-Network PE1 9 +NX_Q92806 G protein-activated inward rectifier potassium channel 3 393 44020 4.86 2 Membrane NA This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium (By similarity). NA Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ9 subfamily. Dopaminergic synapse;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits PE1 1 +NX_Q92813 Type II iodothyronine deiodinase 273 30552 8.18 1 Membrane;Nucleoplasm;Cytosol NA Responsible for the deiodination of T4 (3,5,3',5'-tetraiodothyronine) into T3 (3,5,3'-triiodothyronine). Essential for providing the brain with appropriate levels of T3 during the critical period of development. Ubiquitinated by MARCH6, leading to its degradation by the proteasome. Deubiquitinated by USP20 and USP33. Belongs to the iodothyronine deiodinase family. Regulation of thyroid hormone activity PE1 14 +NX_Q92817 Envoplakin 2033 231604 6.56 0 Cytosol;Desmosome;Cornified envelope;Cytoskeleton NA Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments. NA Belongs to the plakin or cytolinker family. Formation of the cornified envelope PE1 17 +NX_Q92819 Hyaluronan synthase 2 552 63566 8.85 7 Membrane;Nucleus speckle NA Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction and it is particularly responsible for the synthesis of high molecular mass hyaluronan. Required for the transition of endocardial cushion cells into mesenchymal cells, a process crucial for heart development. May also play a role in vasculogenesis. High molecular mass hyaluronan also play a role in early contact inhibition a process which stops cell growth when cells come into contact with each other or the extracellular matrix (By similarity). NA Belongs to the NodC/HAS family. Glycan biosynthesis; hyaluronan biosynthesis.;Hyaluronan biosynthesis and export PE1 8 +NX_Q92820 Gamma-glutamyl hydrolase 318 35964 6.66 0 Lysosome;Melanosome;Extracellular space NA Hydrolyzes the polyglutamate sidechains of pteroylpolyglutamates. Progressively removes gamma-glutamyl residues from pteroylpoly-gamma-glutamate to yield pteroyl-alpha-glutamate (folic acid) and free glutamate. May play an important role in the bioavailability of dietary pteroylpolyglutamates and in the metabolism of pteroylpolyglutamates and antifolates. NA Belongs to the peptidase C26 family. Folate biosynthesis;Neutrophil degranulation PE1 8 +NX_Q92823 Neuronal cell adhesion molecule 1304 143890 5.45 1 Cell membrane;Secreted;Nucleoplasm;Cytoplasmic vesicle;Axon NA Cell adhesion protein that is required for normal responses to cell-cell contacts in brain and in the peripheral nervous system. Plays a role in neurite outgrowth in response to contactin binding. Plays a role in mediating cell-cell contacts between Schwann cells and axons. Plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with GLDN, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier. NA Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family. Cell adhesion molecules (CAMs);Interaction between L1 and Ankyrins;NrCAM interactions;Neurofascin interactions PE1 7 +NX_Q92824 Proprotein convertase subtilisin/kexin type 5 1860 206942 5.71 1 Golgi apparatus;Endomembrane system;Secreted NA Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive and regulated secretory pathways. Plays an essential role in pregnancy establishment by proteolytic activation of a number of important factors such as BMP2, CALD1 and alpha-integrins. NA Belongs to the peptidase S8 family. NGF processing;Assembly of active LPL and LIPC lipase complexes PE1 9 +NX_Q92826 Homeobox protein Hox-B13 284 30676 9.15 0 Nucleoplasm;Nucleus Prostate cancer Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds preferentially to methylated DNA (PubMed:28473536). NA Belongs to the Abd-B homeobox family. NA PE1 17 +NX_Q92828 Coronin-2A 525 59763 8.24 0 Cytosol;Cell membrane NA NA NA Belongs to the WD repeat coronin family. NA PE1 9 +NX_Q92830 Histone acetyltransferase KAT2A 837 93926 9.18 0 Centrosome;Nucleus;Chromosome NA (Microbial infection) In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes.;Protein lysine acyltransferase that can act both as a acetyltransferase and succinyltransferase, depending on the context (PubMed:29211711). Acts as a histone lysine succinyltransferase: catalyzes succinylation of histone H3 on 'Lys-79' (H3K79succ), with a maximum frequency around the transcription start sites of genes (PubMed:29211711). Succinylation of histones gives a specific tag for epigenetic transcription activation (PubMed:29211711). Association with the 2-oxoglutarate dehydrogenase complex, which provides succinyl-CoA, is required for histone succinylation (PubMed:29211711). In different complexes, functions either as an acetyltransferase (HAT) or as a succinyltransferase: in the SAGA and ATAC complexes, acts as a histone acetyltransferase (PubMed:17301242, PubMed:19103755, PubMed:29211711). Has significant histone acetyltransferase activity with core histones, but not with nucleosome core particles (PubMed:17301242, PubMed:19103755). Acetylation of histones gives a specific tag for epigenetic transcription activation (PubMed:17301242, PubMed:19103755, PubMed:29211711). Involved in long-term memory consolidation and synaptic plasticity: acts by promoting expression of a hippocampal gene expression network linked to neuroactive receptor signaling (By similarity). Acts as a positive regulator of T-cell activation: upon TCR stimulation, recruited to the IL2 promoter following interaction with NFATC2 and catalyzes acetylation of histone H3 at Lys-9 (H3K9ac), leading to promote IL2 expression (By similarity). Also acetylates non-histone proteins, such as CEBPB, PLK4 and TBX5 (PubMed:17301242, PubMed:29174768, PubMed:27796307). Involved in heart and limb development by mediating acetylation of TBX5, acetylation regulating nucleocytoplasmic shuttling of TBX5 (PubMed:29174768). Acts as a negative regulator of centrosome amplification by mediating acetylation of PLK4 (PubMed:27796307). NA Belongs to the acetyltransferase family. GCN5 subfamily. Notch signaling pathway;HTLV-I infection;HATs acetylate histones;RNA Polymerase I Transcription Initiation;Pre-NOTCH Transcription and Translation;Notch-HLH transcription pathway;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells;B-WICH complex positively regulates rRNA expression;Ub-specific processing proteases;RUNX3 regulates NOTCH signaling;NOTCH3 Intracellular Domain Regulates Transcription;NOTCH4 Intracellular Domain Regulates Transcription PE1 17 +NX_Q92831 Histone acetyltransferase KAT2B 832 93013 9.16 0 Nucleoplasm;Centrosome;Nucleus NA Functions as a histone acetyltransferase (HAT) to promote transcriptional activation. Has significant histone acetyltransferase activity with core histones (H3 and H4), and also with nucleosome core particles. Also acetylates non-histone proteins, such as ACLY, PLK4 and TBX5. Inhibits cell-cycle progression and counteracts the mitogenic activity of the adenoviral oncoprotein E1A. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers. Involved in heart and limb development by mediating acetylation of TBX5, acetylation regulating nucleocytoplasmic shuttling of TBX5 (PubMed:29174768). Acts as a negative regulator of centrosome amplification by mediating acetylation of PLK4 (PubMed:27796307). Also acetylates spermidine (PubMed:27389534).;(Microbial infection) In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes. NA Belongs to the acetyltransferase family. GCN5 subfamily. Notch signaling pathway;HTLV-I infection;HATs acetylate histones;YAP1- and WWTR1 (TAZ)-stimulated gene expression;RNA Polymerase I Transcription Initiation;Pre-NOTCH Transcription and Translation;Notch-HLH transcription pathway;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells;Physiological factors;B-WICH complex positively regulates rRNA expression;Metalloprotease DUBs;RUNX3 regulates NOTCH signaling;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;NOTCH3 Intracellular Domain Regulates Transcription;Estrogen-dependent gene expression;NOTCH4 Intracellular Domain Regulates Transcription;Regulation of FOXO transcriptional activity by acetylation PE1 3 +NX_Q92832 Protein kinase C-binding protein NELL1 810 89635 5.66 0 Cytoplasm;Nucleus envelope;Secreted NA Plays a role in the control of cell growth and differentiation. Promotes osteoblast cell differentiation and terminal mineralization. NA NA NA PE1 11 +NX_Q92833 Protein Jumonji 1246 138734 9.46 0 Nucleoplasm;Mitochondrion;Nucleus NA Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis. Acts by modulating histone methyltransferase activity and promoting the recruitment of histone methyltransferase complexes to their target genes. Binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells. Does not have histone demethylase activity but regulates activity of various histone methyltransferase complexes. In embryonic stem cells, it associates with the PRC2 complex and inhibits trimethylation of 'Lys-27' of histone H3 (H3K27me3) by the PRC2 complex, thereby playing a key role in differentiation of embryonic stem cells and normal development. In cardiac cells, it is required to repress expression of cyclin-D1 (CCND1) by activating methylation of 'Lys-9' of histone H3 (H3K9me) by the GLP1/EHMT1 and G9a/EHMT2 histone methyltransferases. Also acts as a transcriptional repressor of ANF via its interaction with GATA4 and NKX2-5. Participates in the negative regulation of cell proliferation signaling. NA NA PRC2 methylates histones and DNA PE1 6 +NX_Q92834 X-linked retinitis pigmentosa GTPase regulator 1020 113387 4.79 0 Golgi apparatus;Flagellum axoneme;Cilium;Cilium basal body;Centrosome;Cilium axoneme Cone-rod dystrophy, X-linked 1;Macular degeneration, X-linked, atrophic;Retinitis pigmentosa 3;Retinitis pigmentosa and sinorespiratory infections with or without deafness Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia. Prenylated. NA NA PE1 X +NX_Q92835 Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 1189 133292 7.38 0 Cytoplasm;Cell membrane;Membrane;Cytosol;Membrane raft;Cytoskeleton NA Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways (PubMed:8723348, PubMed:10764818, PubMed:8769125). Able also to hydrolyzes the 5-phosphate of phosphatidylinositol-4,5-bisphosphate (PtdIns(4,5)P3) and inositol 1,3,4,5-tetrakisphosphate (PubMed:9108392, PubMed:10764818, PubMed:8769125). Acts as a negative regulator of B-cell antigen receptor signaling. Mediates signaling from the FC-gamma-RIIB receptor (FCGR2B), playing a central role in terminating signal transduction from activating immune/hematopoietic cell receptor systems. Acts as a negative regulator of myeloid cell proliferation/survival and chemotaxis, mast cell degranulation, immune cells homeostasis, integrin alpha-IIb/beta-3 signaling in platelets and JNK signaling in B-cells. Regulates proliferation of osteoclast precursors, macrophage programming, phagocytosis and activation and is required for endotoxin tolerance. Involved in the control of cell-cell junctions, CD32a signaling in neutrophils and modulation of EGF-induced phospholipase C activity (PubMed:16682172). Key regulator of neutrophil migration, by governing the formation of the leading edge and polarization required for chemotaxis. Modulates FCGR3/CD16-mediated cytotoxicity in NK cells. Mediates the activin/TGF-beta-induced apoptosis through its Smad-dependent expression. Tyrosine phosphorylated by the members of the SRC family after exposure to a diverse array of extracellular stimuli such as cytokines, growth factors, antibodies, chemokines, integrin ligands and hypertonic and oxidative stress. Phosphorylated upon IgG receptor FCGR2B-binding.;INPP5D is phosphorylated by LYN (Phosphotyrosine:PTM-0255) Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase family. Phosphatidylinositol signaling system;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Insulin signaling pathway;Synthesis of PIPs at the plasma membrane;Downstream TCR signaling;Interleukin receptor SHC signaling;Synthesis of IP3 and IP4 in the cytosol;PECAM1 interactions PE1 2 +NX_Q92837 Proto-oncogene FRAT1 279 29093 7.65 0 Cytoplasm;Cytosol;Cytoplasmic vesicle NA Positively regulates the Wnt signaling pathway by stabilizing beta-catenin through the association with GSK-3. May play a role in tumor progression and collaborate with PIM1 and MYC in lymphomagenesis. Phosphorylated. Belongs to the GSK-3-binding protein family. Wnt signaling pathway;Disassembly of the destruction complex and recruitment of AXIN to the membrane;Beta-catenin phosphorylation cascade PE1 10 +NX_Q92838 Ectodysplasin-A 391 41294 8.54 1 Cytoplasmic vesicle;Secreted;Lipid droplet;Cell membrane Tooth agenesis, selective, X-linked, 1;Ectodermal dysplasia 1, hypohidrotic, X-linked Binds only to the receptor EDA2R.;Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:8696334, PubMed:11039935, PubMed:27144394). May also play a role in cell adhesion (By similarity).;Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R. N-glycosylated.;Processing by furin produces a secreted form. Belongs to the tumor necrosis factor family. Cytokine-cytokine receptor interaction;TNFs bind their physiological receptors PE1 X +NX_Q92839 Hyaluronan synthase 1 578 64832 9.35 7 Membrane;Nucleoplasm;Cell membrane NA Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction. Also able to catalyze the synthesis of chito-oligosaccharide depending on the substrate (By similarity). NA Belongs to the NodC/HAS family. Glycan biosynthesis; hyaluronan biosynthesis.;Hyaluronan biosynthesis and export PE1 19 +NX_Q92841 Probable ATP-dependent RNA helicase DDX17 729 80272 8.53 0 Nucleus;Cytosol;Nucleus speckle;Nucleolus NA As an RNA helicase, unwinds RNA and alters RNA structures through ATP binding and hydrolysis. Involved in multiple cellular processes, including pre-mRNA splicing, alternative splicing, ribosomal RNA processing and miRNA processing, as well as transcription regulation. Regulates the alternative splicing of exons exhibiting specific features (PubMed:12138182, PubMed:23022728, PubMed:24910439, PubMed:22266867). For instance, promotes the inclusion of AC-rich alternative exons in CD44 transcripts (PubMed:12138182). This function requires the RNA helicase activity (PubMed:12138182, PubMed:23022728, PubMed:24910439, PubMed:22266867). Affects NFAT5 and histone macro-H2A.1/H2AFY alternative splicing in a CDK9-dependent manner (PubMed:26209609, PubMed:22266867). In NFAT5, promotes the introduction of alternative exon 4, which contains 2 stop codons and may target NFAT5 exon 4-containing transcripts to nonsense-mediated mRNA decay, leading to the down-regulation of NFAT5 protein (PubMed:22266867). Affects splicing of mediators of steroid hormone signaling pathway, including kinases that phosphorylates ESR1, such as CDK2, MAPK1 and GSK3B, and transcriptional regulators, such as CREBBP, MED1, NCOR1 and NCOR2. By affecting GSK3B splicing, participates in ESR1 and AR stabilization (PubMed:24275493). In myoblasts and epithelial cells, cooperates with HNRNPH1 to control the splicing of specific subsets of exons (PubMed:24910439). In addition to binding mature mRNAs, also interacts with certain pri-microRNAs, including MIR663/miR-663a, MIR99B/miR-99b, and MIR6087/miR-6087 (PubMed:25126784). Binds pri-microRNAs on the 3' segment flanking the stem loop via the 5'-[ACG]CAUC[ACU]-3' consensus sequence (PubMed:24581491). Required for the production of subsets of microRNAs, including MIR21 and MIR125B1 (PubMed:24581491, PubMed:27478153). May be involved not only in microRNA primary transcript processing, but also stabilization (By similarity). Participates in MYC down-regulation at high cell density through the production of MYC-targeting microRNAs (PubMed:24581491). Along with DDX5, may be involved in the processing of the 32S intermediate into the mature 28S ribosomal RNA (PubMed:17485482). Promoter-specific transcription regulator, functioning as a coactivator or corepressor depending on the context of the promoter and the transcriptional complex in which it exists (PubMed:15298701). Enhances NFAT5 transcriptional activity (PubMed:22266867). Synergizes with TP53 in the activation of the MDM2 promoter; this activity requires acetylation on lysine residues (PubMed:17226766, PubMed:20663877, PubMed:19995069). May also coactivate MDM2 transcription through a TP53-independent pathway (PubMed:17226766). Coactivates MMP7 transcription (PubMed:17226766). Along with CTNNB1, coactivates MYC, JUN, FOSL1 and cyclin D1/CCND1 transcription (PubMed:17699760). Alone or in combination with DDX5 and/or SRA1 non-coding RNA, plays a critical role in promoting the assembly of proteins required for the formation of the transcription initiation complex and chromatin remodeling leading to coactivation of MYOD1-dependent transcription. This helicase-independent activity is required for skeletal muscle cells to properly differentiate into myotubes (PubMed:17011493, PubMed:24910439). During epithelial-to-mesenchymal transition, coregulates SMAD-dependent transcriptional activity, directly controlling key effectors of differentiation, including miRNAs which in turn directly repress its expression (PubMed:24910439). Plays a role in estrogen and testosterone signaling pathway at several levels. Mediates the use of alternative promoters in estrogen-responsive genes and regulates transcription and splicing of a large number of steroid hormone target genes (PubMed:24275493, PubMed:20406972, PubMed:20663877, PubMed:19995069). Contrary to splicing regulation activity, transcriptional coregulation of the estrogen receptor ESR1 is helicase-independent (PubMed:19718048, PubMed:24275493). Plays a role in innate immunity. Specifically restricts bunyavirus infection, including Rift Valley fever virus (RVFV) or La Crosse virus (LACV), but not vesicular stomatitis virus (VSV), in an interferon- and DROSHA-independent manner (PubMed:25126784). Binds to RVFV RNA, likely via structured viral RNA elements (PubMed:25126784). Promotes mRNA degradation mediated by the antiviral zinc-finger protein ZC3HAV1, in an ATPase-dependent manner (PubMed:18334637). Sumoylation significantly increases stability. It also promotes interaction specifically with HDAC1 (but not HDAC2, nor HDAC3) and strongly stimulates ESR1 and TP53 coactivation.;Acetylation at lysine residues stabilizes the protein, stimulates interaction with HDAC1 and HDAC3, but not HDAC2, and represses ESR1 and TP53 coactivation activity. Belongs to the DEAD box helicase family. DDX5/DBP2 subfamily. SUMOylation of transcription cofactors PE1 22 +NX_Q92843 Bcl-2-like protein 2 193 20746 5.21 0 Mitochondrion membrane;Nucleoplasm NA Promotes cell survival. Blocks dexamethasone-induced apoptosis. Mediates survival of postmitotic Sertoli cells by suppressing death-promoting activity of BAX. NA Belongs to the Bcl-2 family. NA PE1 14 +NX_Q92844 TRAF family member-associated NF-kappa-B activator 425 47816 5.46 0 Cytoplasm;Cytosol;Nucleolus NA Adapter protein involved in I-kappa-B-kinase (IKK) regulation which constitutively binds TBK1 and IKBKE playing a role in antiviral innate immunity. Acts as a regulator of TRAF function by maintaining them in a latent state. Blocks TRAF2 binding to LMP1 and inhibits LMP1-mediated NF-kappa-B activation. Negatively regulates NF-kappaB signaling and cell survival upon DNA damage (PubMed:25861989). Plays a role as an adapter to assemble ZC3H12A, USP10 in a deubiquitination complex which plays a negative feedback response to attenuate NF-kappaB activation through the deubiquitination of IKBKG or TRAF6 in response to interleukin-1-beta (IL1B) stimulation or upon DNA damage (PubMed:25861989). Promotes UBP10-induced deubiquitination of TRAF6 in response to DNA damage (PubMed:25861989). May control negatively TRAF2-mediated NF-kappa-B activation signaled by CD40, TNFR1 and TNFR2. Phosphorylated by IKBKE.;(Microbial infection) Cleaved by encephalomyocarditis virus (EMCV) protease 3C (PubMed:26363073). This cleavage allows the virus to disrupt the TANK-TBK1-IKKepsilon-IRF3 complex, thereby inhibiting the induction of the IFN-beta signal pathway (PubMed:28487378).;(Microbial infection) Cleaved by Seneca Valley virus protease 3C allowing the virus to suppress interferon type-I through both RIG-I and Toll-like receptor-dependent pathways. NA RIG-I-like receptor signaling pathway;TRAF6 mediated IRF7 activation;Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;TICAM1-dependent activation of IRF3/IRF7 PE1 2 +NX_Q92845 Kinesin-associated protein 3 792 91205 4.96 0 NA NA Involved in tethering the chromosomes to the spindle pole and in chromosome movement. Binds to the tail domain of the KIF3A/KIF3B heterodimer to form a heterotrimeric KIF3 complex and may regulate the membrane binding of this complex (By similarity). Phosphorylated on tyrosine residues by SRC in vitro; this reduces the binding affinity of the protein for RAP1GDS1.;KIFAP3 is phosphorylated by PTK6 (Phosphotyrosine:PTM-0255) NA MHC class II antigen presentation;Intraflagellar transport;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 1 +NX_Q92847 Growth hormone secretagogue receptor type 1 366 41329 8.65 7 Cell membrane Growth hormone deficiency, isolated partial Receptor for ghrelin, coupled to G-alpha-11 proteins. Stimulates growth hormone secretion. Binds also other growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low molecular weight secretagogues (e.g. L-692,429, MK-0677, adenosine). NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 3 +NX_Q92851 Caspase-10 521 58951 6.95 0 Golgi apparatus;Cytoplasmic vesicle Autoimmune lymphoproliferative syndrome 2A;Familial non-Hodgkin lymphoma;Gastric cancer Is proteolytically inactive.;Can enhance NF-kappaB activity but promotes only slight apoptosis.;Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and activates caspase-3, -4, -6, -7, -8, and -9. Hydrolyzes the small- molecule substrates, Tyr-Val-Ala-Asp-|-AMC and Asp-Glu-Val-Asp-|-AMC. Cleavage by granzyme B and autocatalytic activity generate the two active subunits. Belongs to the peptidase C14A family. Apoptosis;RIG-I-like receptor signaling pathway;Tuberculosis;NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10;TRAIL signaling;FasL/ CD95L signaling;TP53 Regulates Transcription of Caspase Activators and Caspases PE1 2 +NX_Q92854 Semaphorin-4D 862 96150 8.25 1 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane NA Cell surface receptor for PLXNB1 and PLXNB2 that plays an important role in cell-cell signaling (PubMed:20877282). Regulates GABAergic synapse development (By similarity). Promotes the development of inhibitory synapses in a PLXNB1-dependent manner (By similarity). Modulates the complexity and arborization of developing neurites in hippocampal neurons by activating PLXNB1 and interaction with PLXNB1 mediates activation of RHOA (PubMed:19788569). Promotes the migration of cerebellar granule cells (PubMed:16055703). Plays a role in the immune system; induces B-cells to aggregate and improves their viability (in vitro) (PubMed:8876214). Induces endothelial cell migration through the activation of PTK2B/PYK2, SRC, and the phosphatidylinositol 3-kinase-AKT pathway (PubMed:16055703). NA Belongs to the semaphorin family. Axon guidance;Sema4D mediated inhibition of cell attachment and migration;Other semaphorin interactions;Sema4D induced cell migration and growth-cone collapse PE1 9 +NX_Q92858 Protein atonal homolog 1 354 38160 8.26 0 Nucleus NA Transcriptional regulator. Activates E box-dependent transcription in collaboration with TCF3/E47, but the activity is completely antagonized by the negative regulator of neurogenesis HES1. Plays a role in the differentiation of subsets of neural cells by activating E box-dependent transcription (By similarity). NA NA NA PE2 4 +NX_Q92859 Neogenin 1461 160017 6.08 1 Golgi apparatus;Nucleoplasm;Cell membrane NA Multi-functional cell surface receptor regulating cell adhesion in many diverse developmental processes, including neural tube and mammary gland formation, myogenesis and angiogenesis. Receptor for members of the BMP, netrin, and repulsive guidance molecule (RGM) families. Netrin-Neogenin interactions result in a chemoattractive axon guidance response and cell-cell adhesion, the interaction between NEO1/Neogenin and RGMa and RGMb induces a chemorepulsive response. NA Belongs to the immunoglobulin superfamily. DCC family. Cell adhesion molecules (CAMs);Netrin-1 signaling;Myogenesis PE1 15 +NX_Q92870 Amyloid-beta A4 precursor protein-binding family B member 2 758 83374 5.74 0 Mitochondrion NA May modulate the internalization of amyloid-beta precursor protein. NA NA NA PE1 4 +NX_Q92871 Phosphomannomutase 1 262 29747 5.53 0 Cytoplasm;Cytosol NA Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain. NA Belongs to the eukaryotic PMM family. Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 2/2.;Fructose and mannose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Synthesis of GDP-mannose PE1 22 +NX_Q92874 Deoxyribonuclease-1-like 2 299 32853 4.8 0 Endoplasmic reticulum;Cytoplasm;Mitochondrion;Secreted NA Divalent cation-dependent acid DNA endonuclease involved in the breakdown of the nucleus during corneocyte formation of epidermal keratinocytes. May play an immune role by eliminating harmful DNA released into the extracellular environment by damaged epidermal cells. NA Belongs to the DNase I family. NA PE1 16 +NX_Q92876 Kallikrein-6 244 26856 7.15 0 Cytoplasm;Mitochondrion;Microsome;Secreted;Nucleus membrane;Nucleolus;Nucleoplasm;Cytoskeleton NA Serine protease which exhibits a preference for Arg over Lys in the substrate P1 position and for Ser or Pro in the P2 position. Shows activity against amyloid precursor protein, myelin basic protein, gelatin, casein and extracellular matrix proteins such as fibronectin, laminin, vitronectin and collagen. Degrades alpha-synuclein and prevents its polymerization, indicating that it may be involved in the pathogenesis of Parkinson disease and other synucleinopathies. May be involved in regulation of axon outgrowth following spinal cord injury. Tumor cells treated with a neutralizing KLK6 antibody migrate less than control cells, suggesting a role in invasion and metastasis. Inactivated by autolytic cleavage after Arg-80. Belongs to the peptidase S1 family. Kallikrein subfamily. NA PE1 19 +NX_Q92878 DNA repair protein RAD50 1312 153892 6.47 0 Nucleoplasm;Telomere;Nucleus;Chromosome Nijmegen breakage syndrome-like disorder Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11 to prevent nucleolytic degradation past a given point (PubMed:11741547, PubMed:9590181, PubMed:9705271, PubMed:9651580). The complex may also be required for DNA damage signaling via activation of the ATM kinase (PubMed:15064416). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888). NA Belongs to the SMC family. RAD50 subfamily. Homologous recombination;Non-homologous end-joining;DNA Damage/Telomere Stress Induced Senescence;Meiotic recombination;G2/M DNA damage checkpoint;Sensing of DNA Double Strand Breaks;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;HDR through Single Strand Annealing (SSA);HDR through MMEJ (alt-NHEJ);HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Nonhomologous End-Joining (NHEJ);Regulation of TP53 Activity through Phosphorylation PE1 5 +NX_Q92879 CUGBP Elav-like family member 1 486 52063 8.7 0 Cytoplasm;Nucleoplasm;Nucleus NA RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Acts as both an activator and repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Activates SM exon 5 inclusion by antagonizing the repressive effect of PTB. Promotes exclusion of exon 11 of the INSR pre-mRNA. Inhibits, together with HNRNPH1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Increases translation and controls the choice of translation initiation codon of CEBPB mRNA. Increases mRNA translation of CEBPB in aging liver (By similarity). Increases translation of CDKN1A mRNA by antagonizing the repressive effect of CALR3. Mediates rapid cytoplasmic mRNA deadenylation. Recruits the deadenylase PARN to the poly(A) tail of EDEN-containing mRNAs to promote their deadenylation. Required for completion of spermatogenesis (By similarity). Binds to (CUG)n triplet repeats in the 3'-UTR of transcripts such as DMPK and to Bruno response elements (BREs). Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA. Binds to AU-rich sequences (AREs or EDEN-like) localized in the 3'-UTR of JUN and FOS mRNAs. Binds to the IR RNA. Binds to the 5'-region of CDKN1A and CEBPB mRNAs. Binds with the 5'-region of CEBPB mRNA in aging liver. May be a specific regulator of miRNA biogenesis. Binds to primary microRNA pri-MIR140 and, with CELF2, negatively regulates the processing to mature miRNA (PubMed:28431233). Phosphorylated. Its phosphorylation status increases in senescent cells. Belongs to the CELF/BRUNOL family. NA PE1 11 +NX_Q92882 Osteoclast-stimulating factor 1 214 23787 5.46 0 Cytoplasm;Cytosol NA Induces bone resorption, acting probably through a signaling cascade which results in the secretion of factor(s) enhancing osteoclast formation and activity. NA NA Neutrophil degranulation PE1 9 +NX_Q92886 Neurogenin-1 237 25718 6.9 0 Nucleus NA Acts as a transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity). NA NA NA PE1 5 +NX_Q92887 Canalicular multispecific organic anion transporter 1 1545 174207 8.57 17 Apical cell membrane Dubin-Johnson syndrome Mediates hepatobiliary excretion of numerous organic anions and conjugated organic anions such as methotrexate, 17beta-estradiol 17-glucosiduronic acid and leukotriene C4 (PubMed:11500505). Also transports sulfated bile salt such as taurolithocholate sulfate (PubMed:16332456). May function as a cellular cisplatin transporter. NA Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. ABC transporters;Bile secretion;ABC-family proteins mediated transport;Defective ABCC2 causes Dubin-Johnson syndrome PE1 10 +NX_Q92888 Rho guanine nucleotide exchange factor 1 912 102435 5.47 0 Membrane;Cytoplasm;Cytosol;Cell membrane NA Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits. Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase. Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain. This GEF activity is inhibited by binding to activated GNA12. Mediates angiotensin-2-induced RhoA activation. Phosphorylated by PKCA. Angiotensin-2 induced Tyr-738 phosphorylation is mediated by JAK2. NA Vascular smooth muscle contraction;Regulation of actin cytoskeleton;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 19 +NX_Q92889 DNA repair endonuclease XPF 916 104486 6.5 0 Nucleoplasm;Cell junction;Nucleus Xeroderma pigmentosum complementation group F;Fanconi anemia complementation group Q;Xeroderma pigmentosum type F/Cockayne syndrome;XFE progeroid syndrome Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link. NA Belongs to the XPF family. Dual incision in TC-NER;HDR through Single Strand Annealing (SSA);Dual Incision in GG-NER;Formation of Incision Complex in GG-NER;Fanconi Anemia Pathway PE1 16 +NX_Q92890 Ubiquitin recognition factor in ER-associated degradation protein 1 307 34500 6.27 0 Nucleus;Nucleoplasm;Cytosol;Nucleolus NA Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. It may be involved in the development of some ectoderm-derived structures (By similarity). Acts as a negative regulator of type I interferon production via the complex formed with VCP and NPLOC4, which binds to DDX58/RIG-I and recruits RNF125 to promote ubiquitination and degradation of DDX58/RIG-I (PubMed:26471729). NA Belongs to the UFD1 family. Protein degradation; proteasomal ubiquitin-dependent pathway.;Protein processing in endoplasmic reticulum;Translesion Synthesis by POLH;Ub-specific processing proteases PE1 22 +NX_Q92896 Golgi apparatus protein 1 1179 134552 6.52 1 Golgi apparatus;Golgi apparatus membrane NA Binds fibroblast growth factor and E-selectin (cell-adhesion lectin on endothelial cells mediating the binding of neutrophils). N-glycosylated. Contains sialic acid residues (By similarity).;Fucosylation is essential for binding to E-selectin. NA Cell adhesion molecules (CAMs);Cell surface interactions at the vascular wall PE1 16 +NX_Q92900 Regulator of nonsense transcripts 1 1129 124345 6.18 0 Cytoplasm;Nucleoplasm;P-body;Nucleus NA RNA-dependent helicase and ATPase required for nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited to mRNAs upon translation termination and undergoes a cycle of phosphorylation and dephosphorylation; its phosphorylation appears to be a key step in NMD. Recruited by release factors to stalled ribosomes together with the SMG1C protein kinase complex to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) (located 50-55 or more nucleotides downstream from the termination codon) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex which is believed to activate NMD. Phosphorylated UPF1 is recognized by EST1B/SMG5, SMG6 and SMG7 which are thought to provide a link to the mRNA degradation machinery involving exonucleolytic and endonucleolytic pathways, and to serve as adapters to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation and allowing the recycling of NMD factors. UPF1 can also activate NMD without UPF2 or UPF3, and in the absence of the NMD-enhancing downstream EJC indicative for alternative NMD pathways. Plays a role in replication-dependent histone mRNA degradation at the end of phase S; the function is independent of UPF2. For the recognition of premature termination codons (PTC) and initiation of NMD a competitive interaction between UPF1 and PABPC1 with the ribosome-bound release factors is proposed. The ATPase activity of UPF1 is required for disassembly of mRNPs undergoing NMD. Essential for embryonic viability. Phosphorylated by SMG1; required for formation of mRNA surveillance complexes.;UPF1 is phosphorylated by ATR Belongs to the DNA2/NAM7 helicase family. RNA transport;mRNA surveillance pathway;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) PE1 19 +NX_Q92901 60S ribosomal protein L3-like 407 46296 10.45 0 Nucleus speckle NA NA NA Belongs to the universal ribosomal protein uL3 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 16 +NX_Q92902 Hermansky-Pudlak syndrome 1 protein 700 79292 5.62 0 NA Hermansky-Pudlak syndrome 1 Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991). NA NA RAB GEFs exchange GTP for GDP on RABs PE1 10 +NX_Q92903 Phosphatidate cytidylyltransferase 1 461 53304 8.29 6 Nucleoplasm;Endoplasmic reticulum membrane;Nucleus membrane NA Provides CDP-diacylglycerol, an important precursor for the synthesis of phosphatidylinositol (PtdIns), phosphatidylglycerol, and cardiolipin. Overexpression may amplify cellular signaling responses from cytokines. May also play an important role in the signal transduction mechanism of retina and neural cells. NA Belongs to the CDS family. Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 3/3.;Glycerophospholipid metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PI PE1 4 +NX_Q92904 Deleted in azoospermia-like 295 33178 8.92 0 Cytoplasm;Nucleus NA RNA-binding protein, which is essential for gametogenesis in both males and females. Plays a central role during spermatogenesis. Acts by binding to the 3'-UTR of mRNA, specifically recognizing GUU triplets, and thereby regulating the translation of key transcripts (By similarity). NA Belongs to the RRM DAZ family. NA PE1 3 +NX_Q92905 COP9 signalosome complex subunit 5 334 37579 6.1 0 Nucleoplasm;Cytosol;Perinuclear region;Synaptic vesicle;Nucleus NA Probable protease subunit of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of the SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. In the complex, it probably acts as the catalytic center that mediates the cleavage of Nedd8 from cullins. It however has no metalloprotease activity by itself and requires the other subunits of the CSN complex. Interacts directly with a large number of proteins that are regulated by the CSN complex, confirming a key role in the complex. Promotes the proteasomal degradation of BRSK2. NA Belongs to the peptidase M67A family. CSN5 subfamily. Formation of TC-NER Pre-Incision Complex;DNA Damage Recognition in GG-NER;Cargo recognition for clathrin-mediated endocytosis;Neddylation PE1 8 +NX_Q92908 Transcription factor GATA-6 595 60033 8.68 0 Nucleoplasm;Nucleus Conotruncal heart malformations;Atrial septal defect 9;Tetralogy of Fallot;Pancreatic agenesis and congenital heart defects;Atrioventricular septal defect 5 Transcriptional activator (PubMed:19666519, PubMed:27756709, PubMed:22750565, PubMed:22824924). Regulates SEMA3C and PLXNA2 (PubMed:19666519). Involved in gene regulation specifically in the gastric epithelium (PubMed:9315713). May regulate genes that protect epithelial cells from bacterial infection (PubMed:16968778). Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (By similarity). Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). NA NA Factors involved in megakaryocyte development and platelet production;Surfactant metabolism PE1 18 +NX_Q92911 Sodium/iodide cotransporter 643 68666 7.37 13 Membrane Thyroid dyshormonogenesis 1 Mediates iodide uptake in the thyroid gland. NA Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. Organic anion transporters;Thyroxine biosynthesis;Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1) PE1 19 +NX_Q92913 Fibroblast growth factor 13 245 27564 9.92 0 Cytoplasm;Growth cone;Nucleolus;Filopodium;Cytosol;Dendrite;Nucleus NA Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules. Through its action on microtubules, may participate to the refinement of axons by negatively regulating axonal and leading processes branching. Plays a crucial role in neuron polarization and migration in the cerebral cortex and the hippocampus.;May also play a role in MAPK signaling.;May regulate voltage-gated sodium channels transport and function. May be phosphorylated. Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;Phase 0 - rapid depolarisation PE1 X +NX_Q92914 Fibroblast growth factor 11 225 25005 9.92 0 Centrosome NA Probably involved in nervous system development and function. NA Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;Phase 0 - rapid depolarisation PE2 17 +NX_Q92915 Fibroblast growth factor 14 247 27702 10.11 0 Nucleolus;Nucleus Spinocerebellar ataxia 27 Probably involved in nervous system development and function. NA Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;Phase 0 - rapid depolarisation PE1 13 +NX_Q92917 G-patch domain and KOW motifs-containing protein 476 52229 5.85 0 Nucleoplasm;Nucleus NA RNA-binding protein involved in pre-mRNA splicing. Phosphorylation regulates its ability to bind RNA. Belongs to the MOS2 family. mRNA Splicing - Major Pathway PE1 X +NX_Q92918 Mitogen-activated protein kinase kinase kinase kinase 1 833 91296 8.65 0 Nucleoplasm;Cell membrane NA Serine/threonine-protein kinase, which may play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway. May play a role in hematopoietic lineage decisions and growth regulation. Able to autophosphorylate. Ubiquitinated by the Cul7-RING(FBXW8) ubiquitin-protein ligase complex following autophosphorylation, leading to its degradation by the proteasome.;Autophosphorylates: phosphorylation promotes ubiquitination by the Cul7-RING(FBXW8) ubiquitin-protein ligase complex, leading to its degradation by the proteasome. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. MAPK signaling pathway PE1 19 +NX_Q92922 SWI/SNF complex subunit SMARCC1 1105 122867 5.51 0 Nucleoplasm;Cytoplasm;Nucleus NA Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. May stimulate the ATPase activity of the catalytic subunit of the complex (PubMed:10078207, PubMed:29374058). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Phosphorylated on undefined residues at the G2/M transition by ERK1 and other kinases. This may contribute to cell cycle specific inactivation of remodeling complexes containing the phosphorylated protein. Belongs to the SMARCC family. RMTs methylate histone arginines;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 3 +NX_Q92925 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 531 58921 9.66 0 Nucleoplasm;Nucleus Specific granule deficiency 2 Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:22952240, PubMed:26601204). Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation (PubMed:28369036). Ubiquitinated through a signaling process involving RAC1 and the RING finger protein UNKL. Belongs to the SMARCD family. RMTs methylate histone arginines;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 17 +NX_Q92928 Putative Ras-related protein Rab-1C 201 22017 5.25 0 Membrane;Cytoplasm NA Protein transport. Probably involved in vesicular traffic (By similarity). Phosphocholinated at Ser-76 by L.pneumophila AnkX, leading to displace GDP dissociation inhibitors (GDI). Both GDP-bound and GTP-bound forms can be phosphocholinated. Dephosphocholinated by L.pneumophila Lem3, restoring accessibility to L.pneumophila GTPase effector LepB. Belongs to the small GTPase superfamily. Rab family. NA PE5 9 +NX_Q92930 Ras-related protein Rab-8B 207 23584 9.15 0 Cell membrane;Phagosome membrane;Nucleoplasm;Phagosome;Cytoplasmic vesicle NA The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab may be involved in polarized vesicular trafficking and neurotransmitter release. May participate in cell junction dynamics in Sertoli cells (By similarity). Phosphorylation of Thr-72 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitors GDI1 and GDI2. Belongs to the small GTPase superfamily. Rab family. RAB GEFs exchange GTP for GDP on RABs;TBC/RABGAPs;RAB geranylgeranylation PE1 15 +NX_Q92932 Receptor-type tyrosine-protein phosphatase N2 1015 111271 5.55 1 Cytoplasmic vesicle;Synaptic vesicle membrane;Secretory vesicle membrane NA Plays a role in vesicle-mediated secretory processes. Required for normal accumulation of secretory vesicles in hippocampus, pituitary and pancreatic islets. Required for the accumulation of normal levels of insulin-containing vesicles and preventing their degradation. Plays a role in insulin secretion in response to glucose stimuli. Required for normal accumulation of the neurotransmitters norepinephrine, dopamine and serotonin in the brain. In females, but not in males, required for normal accumulation and secretion of pituitary hormones, such as luteinizing hormone (LH) and follicle-stimulating hormone (FSH) (By similarity). Required to maintain normal levels of renin expression and renin release (By similarity). May regulate catalytic active protein-tyrosine phosphatases such as PTPRA through dimerization (By similarity). Has phosphatidylinositol phosphatase activity; the PIPase activity is involved in its ability to regulate insulin secretion. Can dephosphorylate phosphatidylinositol 4,5-biphosphate (PI(4,5)P2), phosphatidylinositol 5-phosphate and phosphatidylinositol 3-phosphate (By similarity). Regulates PI(4,5)P2 level in the plasma membrane and localization of cofilin at the plasma membrane and thus is indirectly involved in regulation of actin dynamics related to cell migration and metastasis; upon hydrolyzation of PI(4,5)P2 cofilin is released from the plasma membrane and acts in the cytoplasm in severing F-actin filaments (PubMed:26620550). Subject to proteolytic cleavage at multiple sites. Belongs to the protein-tyrosine phosphatase family. Receptor class 8 subfamily. Type I diabetes mellitus;Neutrophil degranulation PE1 7 +NX_Q92934 Bcl2-associated agonist of cell death 168 18392 6.6 0 Mitochondrion outer membrane;Cytoplasm;Mitochondrion NA Promotes cell death. Successfully competes for the binding to Bcl-X(L), Bcl-2 and Bcl-W, thereby affecting the level of heterodimerization of these proteins with BAX. Can reverse the death repressor activity of Bcl-X(L), but not that of Bcl-2 (By similarity). Appears to act as a link between growth factor receptor signaling and the apoptotic pathways. Methylation at Arg-94 and Arg-96 by PRMT1 inhibits Akt-mediated phosphorylation at Ser-99.;Phosphorylated on one or more of Ser-75, Ser-99, Ser-118 and Ser-134 in response to survival stimuli, which blocks its pro-apoptotic activity. Phosphorylation on Ser-99 or Ser-75 promotes heterodimerization with 14-3-3 proteins. This interaction then facilitates the phosphorylation at Ser-118, a site within the BH3 motif, leading to the release of Bcl-X(L) and the promotion of cell survival. Ser-99 is the major site of AKT/PKB phosphorylation, Ser-118 the major site of protein kinase A (CAPK) phosphorylation. Phosphorylation at Ser-99 by PKB/AKT1 is almost completely blocked by the apoptotic C-terminus cleavage product of PKN2 generated by caspases-3 activity during apoptosis.;BAD is phosphorylated by SGK3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the Bcl-2 family. ErbB signaling pathway;Apoptosis;VEGF signaling pathway;Focal adhesion;Neurotrophin signaling pathway;Insulin signaling pathway;Alzheimer's disease;Amyotrophic lateral sclerosis (ALS);Toxoplasmosis;Tuberculosis;Hepatitis C;Pathways in cancer;Colorectal cancer;Pancreatic cancer;Endometrial cancer;Prostate cancer;Melanoma;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer;NRAGE signals death through JNK;Activation of BAD and translocation to mitochondria;BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members;Constitutive Signaling by AKT1 E17K in Cancer;AKT phosphorylates targets in the cytosol PE1 11 +NX_Q92935 Exostosin-like 1 676 74697 8.51 1 Endoplasmic reticulum membrane NA Probable glycosyltransferase. NA Belongs to the glycosyltransferase 47 family. Protein modification; protein glycosylation.;Glycosaminoglycan biosynthesis - heparan sulfate;Metabolic pathways;XBP1(S) activates chaperone genes PE1 1 +NX_Q92945 Far upstream element-binding protein 2 711 73115 6.85 0 Cytoplasm;Nucleoplasm;Nucleus NA Binds to the dendritic targeting element and may play a role in mRNA trafficking (By similarity). Part of a ternary complex that binds to the downstream control sequence (DCS) of the pre-mRNA. Mediates exon inclusion in transcripts that are subject to tissue-specific alternative splicing. May interact with single-stranded DNA from the far-upstream element (FUSE). May activate gene expression. Also involved in degradation of inherently unstable mRNAs that contain AU-rich elements (AREs) in their 3'-UTR, possibly by recruiting degradation machinery to ARE-containing mRNAs. Phosphorylation at Ser-193 leads to the unfolding of the unstable KH domain 1, creating a site for 14-3-3 YWHAZ binding, which promotes nuclear localization and impairs the RNA degradation function. Belongs to the KHSRP family. ATF4 activates genes in response to endoplasmic reticulum stress;KSRP (KHSRP) binds and destabilizes mRNA PE1 19 +NX_Q92947 Glutaryl-CoA dehydrogenase, mitochondrial 438 48127 8.31 0 Mitochondrion matrix;Mitochondrion Glutaric aciduria 1 Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor.;Is inactive. NA Belongs to the acyl-CoA dehydrogenase family. Amino-acid metabolism; lysine degradation.;Amino-acid metabolism; tryptophan metabolism.;Fatty acid metabolism;Lysine degradation;Tryptophan metabolism;Metabolic pathways;Lysine catabolism PE1 19 +NX_Q92949 Forkhead box protein J1 421 45247 5.04 0 Nucleus Allergic rhinitis Transcription factor specifically required for the formation of motile cilia. Acts by activating transcription of genes that mediate assembly of motile cilia, such as CFAP157. Binds the DNA consensus sequences 5'-HWDTGTTTGTTTA-3' or 5'-KTTTGTTGTTKTW-3' (where H is not G, W is A or T, D is not C, and K is G or T). Activates the transcription of a variety of ciliary proteins in the developing brain and lung. NA Belongs to the FOXJ1 family. NA PE1 17 +NX_Q92952 Small conductance calcium-activated potassium channel protein 1 543 59987 9.04 6 Membrane;Cytosol;Cytoskeleton NA Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin (By similarity). NA Belongs to the potassium channel KCNN family. KCa2.1/KCNN1 subfamily. Ca2+ activated K+ channels PE2 19 +NX_Q92953 Potassium voltage-gated channel subfamily B member 2 911 102563 5.81 6 Cell membrane;Perikaryon;Nucleolus;Dendrite;Midbody NA Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and smooth muscle cells. Channels open or close in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their electrochemical gradient. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarization. Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNB1; channel properties depend on the type of alpha subunits that are part of the channel. Can also form functional heterotetrameric channels with other alpha subunits that are non-conducting when expressed alone, such as KCNS1 and KCNS2, creating a functionally diverse range of channel complexes. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Contributes to the delayed-rectifier voltage-gated potassium current in cortical pyramidal neurons and smooth muscle cells. Phosphorylated. Belongs to the potassium channel family. B (Shab) (TC 1.A.1.2) subfamily. Kv2.2/KCNB2 sub-subfamily. Voltage gated Potassium channels PE1 8 +NX_Q92954 Proteoglycan 4 1404 151061 9.54 0 Secreted Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Plays a role as a growth factor acting on the primitive cells of both hematopoietic and endothelial cell lineages.;Plays a role in boundary lubrication within articulating joints. Prevents protein deposition onto cartilage from synovial fluid by controlling adhesion-dependent synovial growth and inhibiting the adhesion of synovial cells to the cartilage surface. O-glycosylated; contains glycosaminoglycan chondroitin sulfate and keratan sulfate. O-glycosylated with sialylated oligosaccharides which are predominantly represented by the monosialylated core type I structure, NeuNAcalpha2-3Galbeta1-3GalNAc, with smaller amounts of disialylated O-glycans (PubMed:25187573).;The disulfide bond between Cys-1146 and Cys-1403 is essential for protein cleavage.;N-glycosylated (PubMed:16335952). NA NA PE1 1 +NX_Q92956 Tumor necrosis factor receptor superfamily member 14 283 30392 6.93 1 Cytoplasm;Cytosol;Cell membrane NA (Microbial infection) Acts as a receptor for Herpes simplex virus 2/HHV-2.;(Microbial infection) Acts as a receptor for Herpes simplex virus 1/HHV-1.;Receptor for four distinct ligands: The TNF superfamily members TNFSF14/LIGHT and homotrimeric LTA/lymphotoxin-alpha and the immunoglobulin superfamily members BTLA and CD160, altogether defining a complex stimulatory and inhibitory signaling network (PubMed:9462508, PubMed:10754304, PubMed:18193050, PubMed:23761635). Signals via the TRAF2-TRAF3 E3 ligase pathway to promote immune cell survival and differentiation (PubMed:19915044, PubMed:9153189, PubMed:9162022). Participates in bidirectional cell-cell contact signaling between antigen presenting cells and lymphocytes. In response to ligation of TNFSF14/LIGHT, delivers costimulatory signals to T cells, promoting cell proliferation and effector functions (PubMed:10754304). Interacts with CD160 on NK cells, enhancing IFNG production and anti-tumor immune response (PubMed:23761635). In the context of bacterial infection, acts as a signaling receptor on epithelial cells for CD160 from intraepithelial lymphocytes, triggering the production of antimicrobial proteins and proinflammatory cytokines (By similarity). Upon binding to CD160 on activated CD4+ T cells, downregulates CD28 costimulatory signaling, restricting memory and alloantigen-specific immune response (PubMed:18193050). May interact in cis (on the same cell) or in trans (on other cells) with BTLA (PubMed:19915044) (By similarity). In cis interactions, appears to play an immune regulatory role inhibiting in trans interactions in naive T cells to maintain a resting state. In trans interactions, can predominate during adaptive immune response to provide survival signals to effector T cells (PubMed:19915044) (By similarity). N-glycosylated. Belongs to the tumor necrosis factor receptor superfamily. Cytokine-cytokine receptor interaction;Herpes simplex infection;TNFs bind their physiological receptors;Costimulation by the CD28 family PE1 1 +NX_Q92959 Solute carrier organic anion transporter family member 2A1 643 70044 9.13 12 Cell membrane Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 May mediate the release of newly synthesized prostaglandins from cells, the transepithelial transport of prostaglandins, and the clearance of prostaglandins from the circulation. Transports PGD2, as well as PGE1, PGE2 and PGF2A. NA Belongs to the organo anion transporter (TC 2.A.60) family. Transport of organic anions;Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2) PE1 3 +NX_Q92963 GTP-binding protein Rit1 219 25145 9.2 0 Cell membrane Noonan syndrome 8 Plays a crucial role in coupling NGF stimulation to the activation of both EPHB2 and MAPK14 signaling pathways and in NGF-dependent neuronal differentiation. Involved in ELK1 transactivation through the Ras-MAPK signaling cascade that mediates a wide variety of cellular functions, including cell proliferation, survival, and differentiation. NA Belongs to the small GTPase superfamily. Ras family. Signalling to p38 via RIT and RIN PE1 1 +NX_Q92966 snRNA-activating protein complex subunit 3 411 46753 5.12 0 Nucleoplasm;Nucleus;Nucleolus NA Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box. NA Belongs to the SNAPC3/SRD2 family. RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 3 Promoter;RNA polymerase II transcribes snRNA genes PE1 9 +NX_Q92968 Peroxisomal membrane protein PEX13 403 44130 7.77 1 Peroxisome membrane;Cytoplasmic vesicle Peroxisome biogenesis disorder 11A;Peroxisome biogenesis disorder 11B;Peroxisome biogenesis disorder complementation group 13 Component of the peroxisomal translocation machinery with PEX14 and PEX17. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5). Involved in the import of PTS1 and PTS2 proteins. NA Belongs to the peroxin-13 family. Peroxisome;E3 ubiquitin ligases ubiquitinate target proteins;Peroxisomal protein import;Class I peroxisomal membrane protein import PE1 2 +NX_Q92973 Transportin-1 898 102355 4.83 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA (Microbial infection) In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev.;Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates (PubMed:24753571). Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Involved in nuclear import of M9-containing proteins. In vitro, binds directly to the M9 region of the heterogeneous nuclear ribonucleoproteins (hnRNP), A1 and A2 and mediates their nuclear import. Appears also to be involved in hnRNP A1/A2 nuclear export. Mediates the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones, and SRP19 (By similarity). Mediates nuclear import of ADAR/ADAR1 isoform 1 and isoform 5 in a RanGTP-dependent manner (PubMed:19124606, PubMed:24753571). NA Belongs to the importin beta family. Importin beta-2 subfamily. Intraflagellar transport;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA PE1 5 +NX_Q92974 Rho guanine nucleotide exchange factor 2 986 111543 6.89 0 Cytoplasm;Golgi apparatus;Tight junction;Ruffle membrane;Cytoplasmic vesicle;Spindle;Cytoskeleton Neurodevelopmental disorder with midbrain and hindbrain malformations Activates Rho-GTPases by promoting the exchange of GDP for GTP. May be involved in epithelial barrier permeability, cell motility and polarization, dendritic spine morphology, antigen presentation, leukemic cell differentiation, cell cycle regulation, innate immune response, and cancer. Binds Rac-GTPases, but does not seem to promote nucleotide exchange activity toward Rac-GTPases, which was uniquely reported in PubMed:9857026. May stimulate instead the cortical activity of Rac. Inactive toward CDC42, TC10, or Ras-GTPases. Forms an intracellular sensing system along with NOD1 for the detection of microbial effectors during cell invasion by pathogens. Required for RHOA and RIP2 dependent NF-kappaB signaling pathways activation upon S.flexneri cell invasion. Involved not only in sensing peptidoglycan (PGN)-derived muropeptides through NOD1 that is independent of its GEF activity, but also in the activation of NF-kappaB by Shigella effector proteins (IpgB2 and OspB) which requires its GEF activity and the activation of RhoA. Involved in innate immune signaling transduction pathway promoting cytokine IL6/interleukin-6 and TNF-alpha secretion in macrophage upon stimulation by bacterial peptidoglycans; acts as a signaling intermediate between NOD2 receptor and RIPK2 kinase. Contributes to the tyrosine phosphorylation of RIPK2 through Src tyrosine kinase leading to NF-kappaB activation by NOD2. Overexpression activates Rho-, but not Rac-GTPases, and increases paracellular permeability (By similarity). Involved in neuronal progenitor cell division and differentiation (PubMed:28453519). Involved in the migration of precerebellar neurons (By similarity). Phosphorylation of Ser-886 by PAK1 induces binding to protein YWHAZ, promoting its relocation to microtubules and the inhibition of its activity. Phosphorylated by AURKA and CDK1 during mitosis, which negatively regulates its activity. Phosphorylation by MAPK1 or MAPK3 increases nucleotide exchange activity. Phosphorylation by PAK4 releases GEF-H1 from the microtubules. Phosphorylated on serine, threonine and tyrosine residues in a RIPK2-dependent manner.;ARHGEF2 is phosphorylated by MAPK3 NA Pathogenic Escherichia coli infection;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 1 +NX_Q92979 Ribosomal RNA small subunit methyltransferase NEP1 244 26720 9.28 0 Nucleoplasm;Nucleolus Bowen-Conradi syndrome S-adenosyl-L-methionine-dependent pseudouridine N(1)-methyltransferase that methylates pseudouridine at position 1248 (Psi1248) in 18S rRNA. Involved the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) conserved in eukaryotic 18S rRNA. Is not able to methylate uridine at this position (PubMed:20047967). Has also an essential role in 40S ribosomal subunit biogenesis independent on its methyltransferase activity, facilitating the incorporation of ribosomal protein S19 during the formation of pre-ribosomes (By similarity). NA Belongs to the class IV-like SAM-binding methyltransferase superfamily. RNA methyltransferase NEP1 family. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 12 +NX_Q92982 Ninjurin-1 152 16345 5.83 2 Membrane NA Homophilic cell adhesion molecule that promotes axonal growth. May play a role in nerve regeneration and in the formation and function of other tissues. Cell adhesion requires divalent cations. NA Belongs to the ninjurin family. NA PE1 9 +NX_Q92985 Interferon regulatory factor 7 503 54278 5.89 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Immunodeficiency 39 Key transcriptional regulator of type I interferon (IFN)-dependent immune responses and plays a critical role in the innate immune response against DNA and RNA viruses. Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters. Can efficiently activate both the IFN-beta (IFNB) and the IFN-alpha (IFNA) genes and mediate their induction via both the virus-activated, MyD88-independent pathway and the TLR-activated, MyD88-dependent pathway. Induces transcription of ubiquitin hydrolase USP25 mRNA in response to lipopolysaccharide (LPS) or viral infection in a type I IFN-dependent manner (By similarity). Required during both the early and late phases of the IFN gene induction but is more critical for the late than for the early phase. Exists in an inactive form in the cytoplasm of uninfected cells and following viral infection, double-stranded RNA (dsRNA), or toll-like receptor (TLR) signaling, becomes phosphorylated by IKBKE and TBK1 kinases. This induces a conformational change, leading to its dimerization and nuclear localization where along with other coactivators it can activate transcription of the type I IFN and ISG genes. Can also play a role in regulating adaptive immune responses by inducing PSMB9/LMP2 expression, either directly or through induction of IRF1. Binds to the Q promoter (Qp) of EBV nuclear antigen 1 a (EBNA1) and may play a role in the regulation of EBV latency. Can activate distinct gene expression programs in macrophages and regulate the anti-tumor properties of primary macrophages. Sumoylated by TRIM28, which inhibits its transactivation activity.;Acetylation inhibits its DNA-binding ability and activity.;In response to a viral infection, phosphorylated on Ser-477 and Ser-479 by TBK1 and IKBKE1. Phosphorylation, and subsequent activation is inhibited by vaccinia virus protein E3. In TLR7- and TLR9-mediated signaling pathway, phosphorylated by IRAK1.;TRAF6-mediated ubiquitination is required for IRF7 activation.;IRF7 is phosphorylated by IKBKE (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);IRF7 is phosphorylated by IRAK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the IRF family. Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Hepatitis C;Measles;Influenza A;Herpes simplex infection;Interferon gamma signaling;Interferon alpha/beta signaling;DEx/H-box helicases activate type I IFN and inflammatory cytokines production;TRAF6 mediated IRF7 activation;TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling;TRAF3-dependent IRF activation pathway;Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;TICAM1-dependent activation of IRF3/IRF7 PE1 11 +NX_Q92988 Homeobox protein DLX-4 240 26263 9.25 0 Nucleoplasm;Nucleus Non-syndromic orofacial cleft 15 May play a role in determining the production of hemoglobin S. May act as a repressor. During embryonic development, plays a role in palatogenesis. NA Belongs to the distal-less homeobox family. NA PE1 17 +NX_Q92989 Polyribonucleotide 5'-hydroxyl-kinase Clp1 425 47646 6.2 0 Nucleoplasm;Nucleus Pontocerebellar hypoplasia 10 Polynucleotide kinase that can phosphorylate the 5'-hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double-stranded DNA (dsDNA) and double-stranded DNA:RNA hybrids. DsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA:RNA hybrid is phosphorylated more efficiently than the DNA component. Plays a key role in both tRNA splicing and mRNA 3'-end formation. Component of the tRNA splicing endonuclease complex: phosphorylates the 5'-terminus of the tRNA 3'-exon during tRNA splicing; this phosphorylation event is a prerequisite for the subsequent ligation of the two exon halves and the production of a mature tRNA (PubMed:24766809, PubMed:24766810). Its role in tRNA splicing and maturation is required for cerebellar development (PubMed:24766809, PubMed:24766810). Component of the pre-mRNA cleavage complex II (CF-II), which seems to be required for mRNA 3'-end formation. Also phosphorylates the 5'-terminus of exogenously introduced short interfering RNAs (siRNAs), which is a necessary prerequisite for their incorporation into the RNA-induced silencing complex (RISC). However, endogenous siRNAs and microRNAs (miRNAs) that are produced by the cleavage of dsRNA precursors by DICER1 already contain a 5'-phosphate group, so this protein may be dispensible for normal RNA-mediated gene silencing. NA Belongs to the Clp1 family. Clp1 subfamily. mRNA surveillance pathway;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Processing of Intronless Pre-mRNAs;tRNA processing in the nucleus;RNA Polymerase II Transcription Termination PE1 11 +NX_Q92990 Glomulin 594 68208 5.24 0 Nucleoplasm;Cytosol Glomuvenous malformations Regulatory component of cullin-RING-based SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase complexes (PubMed:22405651, PubMed:22748924). Inhibits E3 ubiquitin ligase activity by binding to RBX1 (via RING domain) and inhibiting its interaction with the E2 ubiquitin-conjugating enzyme CDC34 (PubMed:22405651, PubMed:22748924). Inhibits RBX1-mediated neddylation of CUL1 (PubMed:22405651). Required for normal stability and normal cellular levels of key components of SCF ubiquitin ligase complexes, including FBXW7, RBX1, CUL1, CUL2, CUL3, CUL4A, and thereby contributes to the regulation of CCNE1 and MYC levels (By similarity). Essential for normal development of the vasculature (PubMed:11845407). Contributes to the regulation of RPS6KB1 phosphorylation (PubMed:11571281). Phosphorylated on tyrosine residues. NA Antigen processing: Ubiquitination & Proteasome degradation PE1 1 +NX_Q92993 Histone acetyltransferase KAT5 513 58582 8.75 0 Nucleoplasm;Nucleus;Perinuclear region;Nucleolus NA Catalytic subunit of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A (PubMed:12776177, PubMed:15042092, PubMed:15121871, PubMed:15310756, PubMed:14966270, PubMed:16387653, PubMed:19909775, PubMed:15196461). This modification may both alter nucleosome-DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription (PubMed:12776177, PubMed:15042092, PubMed:15121871, PubMed:15310756, PubMed:14966270, PubMed:15196461). This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair (PubMed:15196461). NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage (PubMed:15196461). Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome (PubMed:24463511). Also acetylates non-histone proteins, such as ATM, NR1D2, RAN, FOXP3, ULK1 and RUBCNL/Pacer (PubMed:16141325, PubMed:17360565, PubMed:17996965, PubMed:29040603, PubMed:30704899). Directly acetylates and activates ATM (PubMed:16141325). Relieves NR1D2-mediated inhibition of APOC3 expression by acetylating NR1D2 (PubMed:17996965). Promotes FOXP3 acetylation and positively regulates its transcriptional repressor activity (PubMed:17360565). Acetylates RAN at 'Lys-134' (PubMed:29040603). Together with GSK3 (GSK3A or GSK3B), acts as a regulator of autophagy: phosphorylated at Ser-86 by GSK3 under starvation conditions, leading to activate acetyltransferase activity and promote acetylation of key autophagy regulators, such as ULK1 and RUBCNL/Pacer (PubMed:30704899). (Microbial infection) In case of HIV-1 infection, interaction with the viral Tat protein leads to KAT5 polyubiquitination and targets it to degradation.;Sumoylated by UBE2I at Lys-430 and Lys-451, leading to increase of its histone acetyltransferase activity in UV-induced DNA damage response, as well as its translocation to nuclear bodies.;Ubiquitinated by MDM2, leading to its proteasome-dependent degradation.;Autoacetylation at Lys-327 is required for proper function.;Phosphorylated on Ser-86 and Ser-90; enhanced during G2/M phase (PubMed:12468530). The phosphorylated form has a higher histone acetyltransferase activity (PubMed:12468530). Phosphorylation at Ser-86 by GSK3 (GSK3A or GSK3B) activates acetyltransferase activity (PubMed:30704899). Phosphorylation at Ser-90 is a prerequisite for phosphorylation at Ser-86 by GSK3 (PubMed:30704899). Belongs to the MYST (SAS/MOZ) family. HTLV-I infection;HATs acetylate histones;Formation of the beta-catenin:TCF transactivating complex;DNA Damage/Telomere Stress Induced Senescence;G2/M DNA damage checkpoint;Sensing of DNA Double Strand Breaks;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Nonhomologous End-Joining (NHEJ);Regulation of TP53 Activity through Phosphorylation;Estrogen-dependent gene expression PE1 11 +NX_Q92994 Transcription factor IIIB 90 kDa subunit 677 73840 5.29 0 Nucleoplasm;Nucleus Cerebellofaciodental syndrome General activator of RNA polymerase which utilizes different TFIIIB complexes at structurally distinct promoters. The isoform 1 is involved in the transcription of tRNA, adenovirus VA1, 7SL and 5S RNA.;Is required for transcription of the U6 promoter. NA Belongs to the TFIIB family. RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter PE1 14 +NX_Q92995 Ubiquitin carboxyl-terminal hydrolase 13 863 97327 5.33 0 Nucleoplasm;Cytosol NA Deubiquitinase that mediates deubiquitination of target proteins such as BECN1, MITF, SKP2 and USP10 and is involved in various processes such as autophagy and endoplasmic reticulum-associated degradation (ERAD). Component of a regulatory loop that controls autophagy and p53/TP53 levels: mediates deubiquitination of BECN1, a key regulator of autophagy, leading to stabilize the PIK3C3/VPS34-containing complexes. Also deubiquitinates USP10, an essential regulator of p53/TP53 stability. In turn, PIK3C3/VPS34-containing complexes regulate USP13 stability, suggesting the existence of a regulatory system by which PIK3C3/VPS34-containing complexes regulate p53/TP53 protein levels via USP10 and USP13. Recruited by nuclear UFD1 and mediates deubiquitination of SKP2, thereby regulating endoplasmic reticulum-associated degradation (ERAD). Also regulates ERAD through the deubiquitination of UBL4A a component of the BAG6/BAT3 complex. Mediates stabilization of SIAH2 independently of deubiquitinase activity: binds ubiquitinated SIAH2 and acts by impairing SIAH2 autoubiquitination. Has a weak deubiquitinase activity in vitro and preferentially cleaves 'Lys-63'-linked polyubiquitin chains. In contrast to USP5, it is not able to mediate unanchored polyubiquitin disassembly. Able to cleave ISG15 in vitro; however, additional experiments are required to confirm such data. NA Belongs to the peptidase C19 family. Ub-specific processing proteases;Regulation of PTEN stability and activity PE1 3 +NX_Q92997 Segment polarity protein dishevelled homolog DVL-3 716 78055 6.18 0 Cytoplasm;Centrosome;Cytoskeleton;Midbody ring Robinow syndrome, autosomal dominant 3 Involved in the signal transduction pathway mediated by multiple Wnt genes. Arginine methylation may function as a switch in regulation of function in Wnt signaling.;Ubiquitinated. Deubiquitinated by CYLD, which acts on 'Lys-63'-linked ubiquitin chains.;Phosphorylated by CSNK1D. Belongs to the DSH family. Wnt signaling pathway;Notch signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;Degradation of DVL;RHO GTPases Activate Formins;TCF dependent signaling in response to WNT;PCP/CE pathway;Disassembly of the destruction complex and recruitment of AXIN to the membrane;WNT mediated activation of DVL;Negative regulation of TCF-dependent signaling by DVL-interacting proteins PE1 3 +NX_Q93008 Probable ubiquitin carboxyl-terminal hydrolase FAF-X 2570 292280 5.52 0 Cytoplasm;Growth cone;Cytoplasmic vesicle Mental retardation, X-linked 99 Deubiquitinase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Specifically hydrolyzes 'Lys-48'-, 'Lys-29'- and 'Lys-33'-linked polyubiquitins chains. Essential component of TGF-beta/BMP signaling cascade. Specifically deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Deubiquitinates alkylation repair enzyme ALKBH3. OTUD4 recruits USP7 and USP9X to stabilize ALKBH3, thereby promoting the repair of alkylated DNA lesions (PubMed:25944111). Regulates chromosome alignment and segregation in mitosis by regulating the localization of BIRC5/survivin to mitotic centromeres. Involved in axonal growth and neuronal cell migration (PubMed:16322459, PubMed:18254724, PubMed:19135894, PubMed:24607389). Regulates cellular clock function by enhancing the protein stability and transcriptional activity of the core circadian protein ARNTL/BMAL1 via its deubiquitinating activity (PubMed:29626158). NA Belongs to the peptidase C19 family. Downregulation of SMAD2/3:SMAD4 transcriptional activity;Amyloid fiber formation;Ub-specific processing proteases;Synthesis of active ubiquitin: roles of E1 and E2 enzymes;Peroxisomal protein import PE1 X +NX_Q93009 Ubiquitin carboxyl-terminal hydrolase 7 1102 128302 5.33 0 Cytoplasm;PML body;Nucleus;Chromosome NA (Microbial infection) Contributes to the overall stabilization and trans-activation capability of the herpesvirus 1 trans-acting transcriptional protein ICP0/VMW110 during HSV-1 infection.;Hydrolase that deubiquitinates target proteins such as FOXO4, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN, KMT2E/MLL5 and DAXX (PubMed:11923872, PubMed:15053880, PubMed:16964248, PubMed:18716620, PubMed:25283148, PubMed:26678539). Together with DAXX, prevents MDM2 self-ubiquitination and enhances the E3 ligase activity of MDM2 towards p53/TP53, thereby promoting p53/TP53 ubiquitination and proteasomal degradation (PubMed:15053880, PubMed:16845383, PubMed:18566590, PubMed:20153724). Deubiquitinates p53/TP53, preventing degradation of p53/TP53, and enhances p53/TP53-dependent transcription regulation, cell growth repression and apoptosis (PubMed:25283148). Deubiquitinates p53/TP53 and MDM2 and strongly stabilizes p53/TP53 even in the presence of excess MDM2, and also induces p53/TP53-dependent cell growth repression and apoptosis (PubMed:11923872). Deubiquitination of FOXO4 in presence of hydrogen peroxide is not dependent on p53/TP53 and inhibits FOXO4-induced transcriptional activity (PubMed:16964248). In association with DAXX, is involved in the deubiquitination and translocation of PTEN from the nucleus to the cytoplasm, both processes that are counteracted by PML (PubMed:18716620). Deubiquitinates KMT2E/MLL5 preventing KMT2E/MLL5 proteasomal-mediated degradation (PubMed:26678539). Involved in cell proliferation during early embryonic development. Involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage: recruited to DNA damage sites following interaction with KIAA1530/UVSSA and promotes deubiquitination of ERCC6, preventing UV-induced degradation of ERCC6 (PubMed:22466611, PubMed:22466612). Involved in maintenance of DNA methylation via its interaction with UHRF1 and DNMT1: acts by mediating deubiquitination of UHRF1 and DNMT1, preventing their degradation and promoting DNA methylation by DNMT1 (PubMed:21745816, PubMed:22411829). Deubiquitinates alkylation repair enzyme ALKBH3. OTUD4 recruits USP7 and USP9X to stabilize ALKBH3, thereby promoting the repair of alkylated DNA lesions (PubMed:25944111). Acts as a chromatin regulator via its association with the Polycomb group (PcG) multiprotein PRC1-like complex; may act by deubiquitinating components of the PRC1-like complex (PubMed:20601937). Able to mediate deubiquitination of histone H2B; it is however unsure whether this activity takes place in vivo (PubMed:20601937). Exhibits a preference towards 'Lys-48'-linked ubiquitin chains (PubMed:22689415). Increases regulatory T-cells (Treg) suppressive capacity by deubiquitinating and stabilizing the transcription factor FOXP3 which is crucial for Treg cell function (PubMed:23973222). Plays a role in the maintenance of the circadian clock periodicity via deubiquitination and stabilization of the CRY1 and CRY2 proteins (PubMed:27123980). Deubiquitinates REST, thereby stabilizing REST and promoting the maintenance of neural progenitor cells (PubMed:21258371). Not sumoylated.;Polyubiquitinated by herpesvirus 1 trans-acting transcriptional protein ICP0/VMW110; leading to its subsequent proteasomal degradation.;Ubiquitinated at Lys-869.;Is phosphorylated at positions Ser-18 and Ser-963.;Phosphorylated.;Polyneddylated. Belongs to the peptidase C19 family. Herpes simplex infection;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Regulation of TP53 Degradation;Ub-specific processing proteases;Synthesis of active ubiquitin: roles of E1 and E2 enzymes;Regulation of PTEN localization PE1 16 +NX_Q93015 N-alpha-acetyltransferase 80 286 31445 7.75 0 Cytosol NA N-alpha-acetyltransferase that specifically mediates the acetylation of the acidic amino terminus of processed forms of beta- and gamma-actin (ACTB and ACTG, respectively) (PubMed:30028079, PubMed:29581253). N-terminal acetylation of processed beta- and gamma-actin regulates actin filament depolymerization and elongation (PubMed:29581253). In vivo, preferentially displays N-terminal acetyltransferase activity towards acid N-terminal sequences starting with Asp-Asp-Asp and Glu-Glu-Glu (PubMed:30028079, PubMed:29581253). In vitro, shows high activity towards Met-Asp-Glu-Leu and Met-Asp-Asp-Asp (PubMed:10644992, PubMed:29581307). May act as a tumor suppressor (PubMed:10644992). NA Belongs to the acetyltransferase family. NA PE1 3 +NX_Q93033 Immunoglobulin superfamily member 2 1021 115109 6.51 1 Membrane;Mitochondrion NA Plays a role as inhibitor of T-cells proliferation induced by CD3. Inhibits expression of IL2RA on activated T-cells and secretion of IL2. Inhibits tyrosine kinases that are required for IL2 production and cellular proliferation. Inhibits phospholipase C-gamma-1/PLCG1 phosphorylation and subsequent CD3-induced changes in intracellular free calcium. Prevents nuclear translocation of nuclear factor of activated T-cell to the nucleus. Plays a role in the inhibition of T-cell proliferation via IL10 secretion by cutaneous dendritic cells. May be a marker of CD4(+) CD56(+) leukemic tumor cells. N-glycosylated. NA Generation of second messenger molecules PE1 1 +NX_Q93034 Cullin-5 780 90955 8.08 0 Golgi apparatus;Cytosol NA Core component of multiple SCF-like ECS (Elongin-Cullin 2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition component. ECS(SOCS1) seems to direct ubiquitination of JAK2. Seems to be involved in proteosomal degradation of p53/TP53 stimulated by adenovirus E1B-55 kDa protein. May form a cell surface vasopressin receptor. Neddylated; which enhances the ubiquitination activity of SCF and prevents binding of the inhibitor CAND1. Deneddylated via its interaction with the COP9 signalosome (CSN). Belongs to the cullin family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Vif-mediated degradation of APOBEC3G;Antigen processing: Ubiquitination & Proteasome degradation;Downregulation of ERBB2 signaling;Neddylation PE1 11 +NX_Q93038 Tumor necrosis factor receptor superfamily member 25 417 45385 6.01 1 Cell membrane;Focal adhesion;Secreted;Nucleoplasm;Cytoskeleton NA Receptor for TNFSF12/APO3L/TWEAK. Interacts directly with the adapter TRADD. Mediates activation of NF-kappa-B and induces apoptosis. May play a role in regulating lymphocyte homeostasis. Glycosylated. NA Cytokine-cytokine receptor interaction;TNFs bind their physiological receptors PE1 1 +NX_Q93045 Stathmin-2 179 20828 8.4 0 Cytoplasm;Golgi apparatus;Growth cone;Membrane;Endoplasmic reticulum;Lamellipodium;Endosome;Cytoplasmic vesicle;Axon;Perinuclear region NA Regulator of microtubule stability. When phosphorylated by MAPK8, stabilizes microtubules and consequently controls neurite length in cortical neurons. In the developing brain, negatively regulates the rate of exit from multipolar stage and retards radial migration from the ventricular zone (By similarity). Phosphorylated mostly by MAPK8, but also by MAPK9 and MAPK10 in the developing brain cortex.;Sumoylated.;N-terminal palmitoylation promotes specific anchoring to the cytosolic leaflet of Golgi membranes and subsequent vesicular trafficking along dendrites and axons. Neuronal Stathmins are substrates for palmitoyltransferases ZDHHC3, ZDHHC7 and ZDHHC15. Belongs to the stathmin family. NA PE1 8 +NX_Q93050 V-type proton ATPase 116 kDa subunit a isoform 1 837 96413 6.02 8 Golgi apparatus;Nucleus speckle;Cell membrane;Cytoplasmic vesicle membrane;Melanosome;Cytoplasmic vesicle;Cytosol NA Required for assembly and activity of the vacuolar ATPase. Potential role in differential targeting and regulation of the enzyme for a specific organelle (By similarity). NA Belongs to the V-ATPase 116 kDa subunit family. Oxidative phosphorylation;Metabolic pathways;Lysosome;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Tuberculosis;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport;Neutrophil degranulation PE1 17 +NX_Q93052 Lipoma-preferred partner 612 65746 7.18 0 Cytoplasm;Cell membrane;Cell junction;Focal adhesion;Cytosol;Nucleus NA May play a structural role at sites of cell adhesion in maintaining cell shape and motility. In addition to these structural functions, it may also be implicated in signaling events and activation of gene transcription. May be involved in signal transduction from cell adhesion sites to the nucleus allowing successful integration of signals arising from soluble factors and cell-cell adhesion sites. Also suggested to serve as a scaffold protein upon which distinct protein complexes are assembled in the cytoplasm and in the nucleus. NA Belongs to the zyxin/ajuba family. NA PE1 3 +NX_Q93062 RNA-binding protein with multiple splicing 196 21802 7.77 0 Cytoplasm;Nucleoplasm;P-body;Cytosol;Nucleus NA Acts as a coactivator of transcriptional activity. Required to increase TGFB1/Smad-mediated transactivation. Acts through SMAD2, SMAD3 and SMAD4 to increase transcriptional activity. Increases phosphorylation of SMAD2 and SMAD3 on their C-terminal SSXS motif, possibly through recruitment of TGFBR1. Promotes the nuclear accumulation of SMAD2, SMAD3 and SMAD4 proteins (PubMed:26347403). Binds to poly(A) RNA (PubMed:17099224, PubMed:26347403). NA NA NA PE1 8 +NX_Q93063 Exostosin-2 718 82255 6.12 1 Golgi apparatus;Endoplasmic reticulum membrane;Golgi apparatus membrane Hereditary multiple exostoses 2;Potocki-Shaffer syndrome;Seizures, scoliosis, and macrocephaly syndrome Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). NA Belongs to the glycosyltransferase 47 family. Protein modification; protein glycosylation.;Glycosaminoglycan biosynthesis - heparan sulfate;Metabolic pathways;HS-GAG biosynthesis;Defective EXT2 causes exostoses 2;Defective EXT1 causes exostoses 1, TRPS2 and CHDS PE1 11 +NX_Q93070 Ecto-ADP-ribosyltransferase 4 314 35878 9.31 0 Cytoplasm;Cell membrane NA NA NA Belongs to the Arg-specific ADP-ribosyltransferase family. Post-translational modification: synthesis of GPI-anchored proteins PE1 12 +NX_Q93073 Selenocysteine insertion sequence-binding protein 2-like 1101 121776 5.76 0 Nucleoplasm NA Binds SECIS (Sec insertion sequence) elements present on selenocysteine (Sec) protein mRNAs, but does not promote Sec incorporation into selenoproteins in vitro. NA NA NA PE1 15 +NX_Q93074 Mediator of RNA polymerase II transcription subunit 12 2177 243081 6.63 0 Nucleoplasm;Nucleus Ohdo syndrome, X-linked;Opitz-Kaveggia syndrome;Lujan-Fryns syndrome Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway. NA Belongs to the Mediator complex subunit 12 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 X +NX_Q93075 Putative deoxyribonuclease TATDN2 761 85023 7.07 0 Nucleus speckle;Nucleus NA Putative deoxyribonuclease. NA Belongs to the metallo-dependent hydrolases superfamily. TatD-type hydrolase family. XBP1(S) activates chaperone genes PE1 3 +NX_Q93077 Histone H2A type 1-C 130 14105 11.05 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Deiminated on Arg-4 in granulocytes upon calcium entry.;Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.;Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of 'Lys-27' of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and 'Lys-63'-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend 'Lys-63'-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). H2AK119Ub and ionizing radiation-induced 'Lys-63'-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events.;Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239). Belongs to the histone H2A family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;RMTs methylate histone arginines;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;UCH proteinases;Ub-specific processing proteases;Metalloprotease DUBs;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 6 +NX_Q93079 Histone H2B type 1-H 126 13892 10.31 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons (PubMed:16627869). Monoubiquitinated by DTX3L upon encephalomyocarditis virus (EMCV)-mediated infection (PubMed:26479788).;Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination.;GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes (By similarity).;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes. Belongs to the histone H2B family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;G2/M DNA damage checkpoint;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Ub-specific processing proteases;E3 ubiquitin ligases ubiquitinate target proteins;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 6 +NX_Q93083 Metallothionein-1L 61 6062 8.38 0 NA NA Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. NA Belongs to the metallothionein superfamily. Type 1 family. NA PE1 16 +NX_Q93084 Sarcoplasmic/endoplasmic reticulum calcium ATPase 3 1043 113977 5.42 10 Endoplasmic reticulum membrane;Nucleus membrane;Sarcoplasmic reticulum membrane NA This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium. Transports calcium ions from the cytosol into the sarcoplasmic/endoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. Calcium signaling pathway;Pancreatic secretion;Alzheimer's disease;Ion transport by P-type ATPases;Pre-NOTCH Processing in Golgi;Reduction of cytosolic Ca++ levels;Ion homeostasis PE1 17 +NX_Q93086 P2X purinoceptor 5 422 47205 7.46 2 Membrane;Cytosol NA Receptor for ATP that acts as a ligand-gated ion channel. NA Belongs to the P2X receptor family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Elevation of cytosolic Ca2+ levels;Platelet homeostasis PE1 17 +NX_Q93088 Betaine--homocysteine S-methyltransferase 1 406 44998 6.58 0 Cytoplasm;Cytosol NA Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline. NA NA Amino-acid biosynthesis; L-methionine biosynthesis via de novo pathway; L-methionine from L-homocysteine (BhmT route): step 1/1.;Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 1/2.;Glycine, serine and threonine metabolism;Cysteine and methionine metabolism;Metabolic pathways;Sulfur amino acid metabolism;Choline catabolism PE1 5 +NX_Q93091 Ribonuclease K6 150 17196 9.09 0 Cytoplasmic granule;Secreted;Lysosome NA Ribonuclease which shows a preference for the pyrimidines uridine and cytosine (PubMed:8836175, PubMed:27013146). Has potent antibacterial activity against a range of Gram-positive and Gram-negative bacteria, including P.aeruginosa, A.baumanii, M.luteus, S.aureus, E.faecalis, E.faecium, S.saprophyticus and E.coli (PubMed:25075772, PubMed:27089320). Causes loss of bacterial membrane integrity, and also promotes agglutination of Gram-negative bacteria (PubMed:27089320). Probably contributes to urinary tract sterility (PubMed:25075772). Bactericidal activity is independent of RNase activity (PubMed:27089320). NA Belongs to the pancreatic ribonuclease family. Antimicrobial peptides PE1 14 +NX_Q93096 Protein tyrosine phosphatase type IVA 1 173 19815 9.17 0 Cytoplasm;Cell membrane;Early endosome;Endoplasmic reticulum;Spindle NA Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. May play a role in the development and maintenance of differentiating epithelial tissues. Enhances cell proliferation, cell motility and invasive activity, and promotes cancer metastasis. Farnesylated. Farnesylation is required for membrane targeting. Unfarnesylated forms are shifted into the nucleus. Belongs to the protein-tyrosine phosphatase family. NA PE1 6 +NX_Q93097 Protein Wnt-2b 391 43770 9.32 0 Nucleoplasm;Extracellular matrix;Secreted;Cytoplasmic vesicle Diarrhea 9 Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt/beta-catenin signaling pathway. Plays a redundant role in embryonic lung development. Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Belongs to the Wnt family. Wnt signaling pathway;Hedgehog signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors) PE1 1 +NX_Q93098 Protein Wnt-8b 351 38721 8.93 0 Extracellular matrix NA Ligand for members of the frizzled family of seven transmembrane receptors. May play an important role in the development and differentiation of certain forebrain structures, notably the hippocampus. Proteolytic processing by TIKI1 and TIKI2 promotes oxidation and formation of large disulfide-bond oligomers, leading to inactivation of WNT8B.;Palmitoleoylation is required for efficient binding to frizzled receptors (By similarity). Depalmitoleoylation leads to Wnt signaling pathway inhibition (By similarity). Belongs to the Wnt family. Wnt signaling pathway;Hedgehog signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors);TCF dependent signaling in response to WNT;Disassembly of the destruction complex and recruitment of AXIN to the membrane PE2 10 +NX_Q93099 Homogentisate 1,2-dioxygenase 445 49964 6.5 0 Golgi apparatus Alkaptonuria NA NA Belongs to the homogentisate dioxygenase family. Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 4/6.;Tyrosine metabolism;Metabolic pathways;Tyrosine catabolism PE1 3 +NX_Q93100 Phosphorylase b kinase regulatory subunit beta 1093 124884 6.5 0 Golgi apparatus;Cell membrane Glycogen storage disease 9B Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation. Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated.;Ser-701 is probably phosphorylated by PKA.;PHKB is phosphorylated by PASK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the phosphorylase b kinase regulatory chain family. Glycan biosynthesis; glycogen metabolism.;Calcium signaling pathway;Insulin signaling pathway;Glycogen breakdown (glycogenolysis) PE1 16 +NX_Q95460 Major histocompatibility complex class I-related gene protein 341 39366 5.87 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Secreted;Cell membrane NA Antigen-presenting molecule specialized in presenting microbial vitamin B metabolites. Involved in the development and expansion of a small population of T-cells expressing an invariant T-cell receptor alpha chain called mucosal-associated invariant T-cells (MAIT). MAIT lymphocytes are preferentially located in the gut lamina propria and therefore may be involved in monitoring commensal flora or serve as a distress signal. Expression and MAIT cell recognition seem to be ligand-dependent. N-glycosylated. Belongs to the MHC class I family. NA PE1 1 +NX_Q95IE3 HLA class II histocompatibility antigen, DRB1-12 beta chain 266 29878 7.69 1 Endoplasmic reticulum membrane;Cell membrane;Endosome membrane;trans-Golgi network membrane;Lysosome membrane;Late endosome membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II. Belongs to the MHC class II family. MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_Q969D9 Thymic stromal lymphopoietin 159 18141 9.75 0 Golgi apparatus;Secreted;Cytoplasmic vesicle NA Cytokine that induces the release of T-cell-attracting chemokines from monocytes and, in particular, enhances the maturation of CD11c(+) dendritic cells. Can induce allergic inflammation by directly activating mast cells.;May act as an antimicrobial peptide in the oral cavity and on the skin. NA NA Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-7 signaling PE1 5 +NX_Q969E1 Liver-expressed antimicrobial peptide 2 77 8814 10.31 0 Secreted NA Has an antimicrobial activity. NA Belongs to the LEAP2 family. Antimicrobial peptides PE1 5 +NX_Q969E2 Secretory carrier-associated membrane protein 4 229 25728 9.07 4 Golgi apparatus;Cell membrane;Lipid droplet;Membrane;Cytoplasmic vesicle NA Probably involved in membrane protein trafficking. NA Belongs to the SCAMP family. NA PE1 19 +NX_Q969E3 Urocortin-3 161 17961 10.41 0 Secreted NA Suppresses food intake, delays gastric emptying and decreases heat-induced edema. Might represent an endogenous ligand for maintaining homeostasis after stress. NA Belongs to the sauvagine/corticotropin-releasing factor/urotensin I family. Class B/2 (Secretin family receptors) PE1 10 +NX_Q969E4 Transcription elongation factor A protein-like 3 200 22502 4.85 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the TFS-II family. TFA subfamily. NA PE1 X +NX_Q969E8 Pre-rRNA-processing protein TSR2 homolog 191 20894 4.25 0 Nucleoplasm;Cytosol;Cell junction;Nucleolus Diamond-Blackfan anemia 14, with mandibulofacial dysostosis May be involved in 20S pre-rRNA processing. NA Belongs to the TSR2 family. NA PE1 X +NX_Q969F0 Fetal and adult testis-expressed transcript protein 183 20712 9.51 1 Mitochondrion outer membrane;Endoplasmic reticulum;Endoplasmic reticulum membrane;Mitochondrion NA Involved in the regulation of endoplasmic reticulum (ER)-mitochondria coupling. Negatively regulates the ER-mitochondria distance and Ca(2+) transfer from ER to mitochondria possibly implicating it in the regulation of apoptosis (PubMed:27402544). May collaborate with RNF183 to restrain BIK protein levels thus regulating apoptotic signaling (PubMed:26567849). NA NA NA PE1 X +NX_Q969F1 General transcription factor 3C polypeptide 6 213 24049 4.13 0 Nucleoplasm;Nucleus NA Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters. NA Belongs to the TFIIIC subunit 6 family. RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter PE1 6 +NX_Q969F2 Protein naked cuticle homolog 2 451 50055 7.83 0 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA Cell autonomous antagonist of the canonical Wnt signaling pathway. May activate a second Wnt signaling pathway that controls planar cell polarity (By similarity). Required for processing of TGFA and for targeting of TGFA to the basolateral membrane of polarized epithelial cells. Ubiquitinated, leading to rapid proteasomal degradation. Interaction with TGFA interferes with RNF25 binding and protects against ubiquitination mediated by RNF25. Belongs to the NKD family. Wnt signaling pathway PE1 5 +NX_Q969F8 KiSS-1 receptor 398 42586 9.93 7 Cytoplasmic vesicle;Cell membrane Precocious puberty, central 1;Hypogonadotropic hypogonadism 8 with or without anosmia Receptor for metastin (kisspeptin-54 or kp-54), a C-terminally amidated peptide of KiSS1. KiSS1 is a metastasis suppressor protein that suppresses metastases in malignant melanomas and in some breast carcinomas without affecting tumorigenicity. The metastasis suppressor properties may be mediated in part by cell cycle arrest and induction of apoptosis in malignant cells. The receptor is essential for normal gonadotropin-released hormone physiology and for puberty. The hypothalamic KiSS1/KISS1R system is a pivotal factor in central regulation of the gonadotropic axis at puberty and in adulthood. The receptor is also probably involved in the regulation and fine-tuning of trophoblast invasion generated by the trophoblast itself. Analysis of the transduction pathways activated by the receptor identifies coupling to phospholipase C and intracellular calcium release through pertussis toxin-insensitive G(q) proteins. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 19 +NX_Q969F9 Hermansky-Pudlak syndrome 3 protein 1004 113736 6.01 0 Golgi apparatus;Cytoplasm;Cytosol;Cell membrane Hermansky-Pudlak syndrome 3 Involved in early stages of melanosome biogenesis and maturation. NA NA NA PE1 3 +NX_Q969G2 LIM/homeobox protein Lhx4 390 43124 7.52 0 Nucleus speckle;Nucleus Pituitary hormone deficiency, combined, 4 May play a critical role in the development of respiratory control mechanisms and in the normal growth and maturation of the lung. Binds preferentially to methylated DNA (PubMed:28473536). NA NA Regulation of expression of SLITs and ROBOs PE1 1 +NX_Q969G3 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 411 46649 4.85 0 Nucleoplasm;Nucleus Coffin-Siris syndrome 5;Meningioma Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Required for the coactivation of estrogen responsive promoters by SWI/SNF complexes and the SRC/p160 family of histone acetyltransferases (HATs). Also specifically interacts with the CoREST corepressor resulting in repression of neuronal specific gene promoters in non-neuronal cells. Ubiquitinated by TRIP12, leading to its degradation by the proteasome. Ubiquitination is prevented upon interaction between TRIP12 and SMARCC1. NA RMTs methylate histone arginines;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 17 +NX_Q969G5 Caveolae-associated protein 3 261 27701 6.05 0 Cytoplasm;Cytosol;Caveola;Cell membrane NA Regulates the traffic and/or budding of caveolae (PubMed:19262564). Plays a role in caveola formation in a tissue-specific manner. Required for the formation of caveolae in smooth muscle but not in the lung and heart endothelial cells. Regulates the equilibrium between cell surface-associated and cell surface-dissociated caveolae by promoting the rapid release of caveolae from the cell surface. Plays a role in the regulation of the circadian clock. Modulates the period length and phase of circadian gene expression and also regulates expression and interaction of the core clock components PER1/2 and CRY1/2 (By similarity). In vitro, phosphorylated by PRKCD. Belongs to the CAVIN family. NA PE1 11 +NX_Q969G6 Riboflavin kinase 155 17623 7.85 0 Golgi apparatus;Cytoplasm NA Catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin-mononucleotide (FMN), hence rate-limiting enzyme in the synthesis of FAD. Essential for TNF-induced reactive oxygen species (ROS) production. Through its interaction with both TNFRSF1A and CYBA, physically and functionally couples TNFRSF1A to NADPH oxidase. TNF-activation of RFK may enhance the incorporation of FAD in NADPH oxidase, a critical step for the assembly and activation of NADPH oxidase. NA NA Cofactor biosynthesis; FMN biosynthesis; FMN from riboflavin (ATP route): step 1/1.;Riboflavin metabolism;Metabolic pathways;Vitamin B2 (riboflavin) metabolism PE1 9 +NX_Q969G9 Protein naked cuticle homolog 1 470 52285 8.82 0 Cytoplasm;Nucleolus;Cell membrane NA Cell autonomous antagonist of the canonical Wnt signaling pathway. May activate a second Wnt signaling pathway that controls planar cell polarity. NA Belongs to the NKD family. Wnt signaling pathway PE1 16 +NX_Q969H0 F-box/WD repeat-containing protein 7 707 79663 5.5 0 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Nucleolus NA Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds phosphorylated sites/phosphodegrons within target proteins and thereafter bring them to the SCF complex for ubiquitination (PubMed:22748924, PubMed:17434132, PubMed:26976582, PubMed:28727686). Identified substrates include cyclin-E (CCNE1 or CCNE2), DISC1, JUN, MYC, NOTCH1 released notch intracellular domain (NICD), NOTCH2, MCL1, and probably PSEN1 (PubMed:11565034, PubMed:12354302, PubMed:11585921, PubMed:15103331, PubMed:14739463, PubMed:17558397, PubMed:17873522, PubMed:22608923, PubMed:22748924, PubMed:29149593, PubMed:25775507, PubMed:28007894, PubMed:26976582, PubMed:28727686). Acts as a negative regulator of JNK signaling by binding to phosphorylated JUN and promoting its ubiquitination and subsequent degradation (PubMed:14739463). SCF(FBXW7) complex mediates the ubiquitination and subsequent degradation of NFE2L1 (By similarity). Involved in bone homeostasis and negative regulation of osteoclast differentiation (PubMed:29149593). Regulates the amplitude of the cyclic expression of hepatic core clock genes and genes involved in lipid and glucose metabolism via ubiquitination and proteasomal degradation of their transcriptional repressor NR1D1; CDK1-dependent phosphorylation of NR1D1 is necessary for SCF(FBXW7)-mediated ubiquitination (PubMed:27238018). Phosphorylation at Thr-205 promotes interaction with PIN1, leading to disrupt FBXW7 dimerization and promoting FBXW7 autoubiquitination and degradation (PubMed:22608923).;Ubiquitinated: autoubiquitinates following phosphorylation at Thr-205 and subsequent interaction with PIN1. Ubiquitination leads to its proteasomal degradation (PubMed:22608923). NA Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Association of TriC/CCT with target proteins during biosynthesis;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling;Neddylation;Regulation of RUNX2 expression and activity;Negative regulation of NOTCH4 signaling PE1 4 +NX_Q969H4 Connector enhancer of kinase suppressor of ras 1 720 79706 5.22 0 Membrane;Cytoplasm;Cytosol NA May function as an adapter protein or regulator of Ras signaling pathways. Phosphorylated on tyrosine. Belongs to the CNKSR family. MAP2K and MAPK activation;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 1 +NX_Q969H6 Ribonuclease P/MRP protein subunit POP5 163 18820 6.89 0 Nucleoplasm;Nucleolus NA Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:11413139, PubMed:30454648). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465). NA Belongs to the eukaryotic/archaeal RNase P protein component 2 family. Ribosome biogenesis in eukaryotes;RNA transport;tRNA processing in the nucleus PE1 12 +NX_Q969H8 Myeloid-derived growth factor 173 18795 6.2 0 Golgi apparatus;Endoplasmic reticulum;Secreted;Endoplasmic reticulum-Golgi intermediate compartment NA Bone marrow-derived monocyte and paracrine-acting protein that promotes cardiac myocyte survival and adaptive angiogenesis for cardiac protection and/or repair after myocardial infarction (MI). Stimulates endothelial cell proliferation through a MAPK1/3-, STAT3- and CCND1-mediated signaling pathway. Inhibits cardiac myocyte apoptosis in a PI3K/AKT-dependent signaling pathway (By similarity). Involved in endothelial cell proliferation and angiogenesis (PubMed:25581518). NA Belongs to the MYDGF family. XBP1(S) activates chaperone genes PE1 19 +NX_Q969H9 Disrupted in renal carcinoma protein 1 104 11440 8.68 0 Nucleoplasm NA NA NA NA NA PE2 2 +NX_Q969I3 Glycine N-acyltransferase-like protein 1 302 35101 6.41 0 NA NA Acyltransferase which transfers an acyl group to the N-terminus of glutamine. Can use phenylacetyl-CoA as an acyl donor. NA Belongs to the glycine N-acyltransferase family. Conjugation of salicylate with glycine;Conjugation of benzoate with glycine PE1 11 +NX_Q969I6 Sodium-coupled neutral amino acid transporter 4 547 60764 6.02 10 Cell membrane NA Sodium-dependent amino acid transporter. Mediates electrogenic symport of neutral amino acids and sodium ions. Has a broad specificity, with a preference for Ala, followed by His, Cys, Asn, Ser, Gly, Val, Thr, Gln and Met. May mediate sodium-independent transport of cationic amino acids, such as Arg and Lys. Amino acid uptake is pH-dependent, with low transport activities at pH 6.5, intermediate at pH 7.0 and highest between pH 7.5 and 8.5. The disulfide bond plays an important role in substrate transport, but has no effect on trafficking to the cell surface. Belongs to the amino acid/polyamine transporter 2 family. Amino acid transport across the plasma membrane PE1 12 +NX_Q969J2 Zinc finger protein with KRAB and SCAN domains 4 545 61579 7.56 0 Nucleus NA May be involved in the transcriptional activation of MDM2 and EP300 genes. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 6 +NX_Q969J3 BLOC-1-related complex subunit 5 196 22222 5.97 0 Cytosol;Lysosome membrane NA As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. Thereby, it may indirectly play a role in cell spreading and motility. Myristoylation at Gly-2 mediates attachment to lysosome membranes. Belongs to the BORCS5 family. NA PE1 12 +NX_Q969J5 Interleukin-22 receptor subunit alpha-2 263 30550 8.31 0 Secreted NA May play a role in establishing and maintaining successful pregnancy.;Is a receptor for IL22. Binds to IL22, prevents interaction with the functional IL-22R complex and blocks the activity of IL22 (in vitro). May play an important role as an IL22 antagonist in the regulation of inflammatory responses. NA Belongs to the type II cytokine receptor family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-20 family signaling PE1 6 +NX_Q969K3 E3 ubiquitin-protein ligase RNF34 372 41641 4.83 0 Nucleus speckle;Cell membrane;Endomembrane system;Nucleoplasm;Cytosol;Nucleus NA E3 ubiquitin-protein ligase that regulates several biological processes through the ubiquitin-mediated proteasomal degradation of various target proteins. Ubiquitinates the caspases CASP8 and CASP10, promoting their proteasomal degradation, to negatively regulate cell death downstream of death domain receptors in the extrinsic pathway of apoptosis (PubMed:15069192). May mediate 'Lys-48'-linked polyubiquitination of RIPK1 and its subsequent proteasomal degradation thereby indirectly regulating the tumor necrosis factor-mediated signaling pathway (Ref.13). Negatively regulates p53/TP53 through its direct ubiquitination and targeting to proteasomal degradation (PubMed:17121812). Indirectly, may also negatively regulate p53/TP53 through ubiquitination and degradation of SFN (PubMed:18382127). Mediates PPARGC1A proteasomal degradation probably through ubiquitination thereby indirectly regulating the metabolism of brown fat cells (PubMed:22064484). Possibly involved in innate immunity, through 'Lys-48'-linked polyubiquitination of NOD1 and its subsequent proteasomal degradation (PubMed:25012219). Proteolytically cleaved by caspases upon induction of apoptosis by TNF.;Autoubiquitinated (in vitro). NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Regulation of TP53 Degradation PE1 12 +NX_Q969K4 Ankyrin repeat and BTB/POZ domain-containing protein 1 478 53979 5.15 0 Cytoplasm;Cytosol;Nucleolus NA May act as a mediator of the PTEN growth-suppressive signaling pathway. May play a role in developmental processes. NA NA NA PE1 3 +NX_Q969K7 Transmembrane protein 54 222 23772 8.06 4 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the TMEM54 family. NA PE1 1 +NX_Q969L2 Protein MAL2 176 19125 5.76 4 Apical cell membrane;Endomembrane system;Perinuclear region;Cell membrane NA Member of the machinery of polarized transport. Required for the indirect transcytotic route at the step of the egress of the transcytosing cargo from perinuclear endosomes in order for it to travel to the apical surface via a raft-dependent pathway. NA Belongs to the MAL family. NA PE1 8 +NX_Q969L4 U7 snRNA-associated Sm-like protein LSm10 123 14080 9.3 0 Nucleoplasm;Nucleus NA Appears to function in the U7 snRNP complex that is involved in histone 3'-end processing. Increases U7 snRNA levels but not histone 3'-end pre-mRNA processing activity, when overexpressed. Required for cell cycle progression from G1 to S phases. Binds specifically to U7 snRNA. Binds to the downstream cleavage product (DCP) of histone pre-mRNA in a U7 snRNP dependent manner. Not methylated. Methylation is not necessary for interaction with SMN. Belongs to the snRNP Sm proteins family. SLBP independent Processing of Histone Pre-mRNAs;SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 1 +NX_Q969M1 Mitochondrial import receptor subunit TOM40B 308 33917 6.73 0 Mitochondrion outer membrane;Cytoplasm;Nucleus NA Potential channel-forming protein implicated in import of protein precursors into mitochondria. NA Belongs to the Tom40 family. Amyotrophic lateral sclerosis (ALS) PE1 1 +NX_Q969M2 Gap junction alpha-10 protein 543 61872 7.89 4 Gap junction;Cell membrane NA One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. Involved in tracer coupling between horizontal cells of the retina. May play a role in the regulation of horizontal cell patterning (By similarity). NA Belongs to the connexin family. Alpha-type (group II) subfamily. Electric Transmission Across Gap Junctions;Gap junction assembly PE2 6 +NX_Q969M3 Protein YIPF5 257 27989 4.18 5 Golgi apparatus;Endoplasmic reticulum membrane;cis-Golgi network membrane;COPII-coated vesicle;Endoplasmic reticulum;Nucleoplasm;Cytoplasmic vesicle NA Plays a role in transport between endoplasmic reticulum and Golgi. NA Belongs to the YIP1 family. NA PE1 5 +NX_Q969M7 NEDD8-conjugating enzyme UBE2F 185 21077 6.31 0 Cytosol NA Accepts the ubiquitin-like protein NEDD8 from the UBA3-NAE1 E1 complex and catalyzes its covalent attachment to other proteins. The specific interaction with the E3 ubiquitin ligase RBX2, but not RBX1, suggests that the RBX2-UBE2F complex neddylates specific target proteins, such as CUL5. The acetylation of Met-1 increases affinity for DCUN1D3 by about 2 orders of magnitude and is crucial for NEDD8 transfer to cullins. Belongs to the ubiquitin-conjugating enzyme family. UBE2F subfamily. Protein modification; protein neddylation.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 2 +NX_Q969N2 GPI transamidase component PIG-T 578 65700 8.64 1 Endoplasmic reticulum membrane Multiple congenital anomalies-hypotonia-seizures syndrome 3;Paroxysmal nocturnal hemoglobinuria 2 Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates. The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity. Belongs to the PIGT family. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Attachment of GPI anchor to uPAR PE1 20 +NX_Q969N4 Trace amine-associated receptor 8 342 38029 6.42 7 Cell membrane NA Orphan receptor. Could be a receptor for trace amines. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Amine ligand-binding receptors PE2 6 +NX_Q969P0 Immunoglobulin superfamily member 8 613 65034 8.23 1 Cytoplasmic vesicle;Cell membrane NA May play a key role in diverse functions ascribed to CD81 and CD9 such as oocytes fertilization or hepatitis C virus function. May regulate proliferation and differentiation of keratinocytes. May be a negative regulator of cell motility: suppresses T-cell mobility coordinately with CD81, associates with CD82 to suppress prostate cancer cell migration, regulates epidermoid cell reaggregation and motility on laminin-5 with CD9 and CD81 as key linkers. May also play a role on integrin-dependent morphology and motility functions. May participate in the regulation of neurite outgrowth and maintenance of the neural network in the adult brain. NA NA NA PE1 1 +NX_Q969P5 F-box only protein 32 355 41637 9.45 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins during skeletal muscle atrophy. Recognizes TERF1. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 8 +NX_Q969P6 DNA topoisomerase I, mitochondrial 601 69872 9.46 0 Mitochondrion NA Releases the supercoiling and torsional tension of DNA introduced during duplication of mitochondrial DNA by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 5'-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, thus removing DNA supercoils. Finally, in the religation step, the DNA 5'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity). NA Belongs to the type IB topoisomerase family. NA PE1 8 +NX_Q969Q0 60S ribosomal protein L36a-like 106 12469 10.67 0 Cytoplasm NA NA NA Belongs to the eukaryotic ribosomal protein eL42 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 14 +NX_Q969Q1 E3 ubiquitin-protein ligase TRIM63 353 40248 4.85 0 Cytoplasm;Z line;M line;Nucleus NA E3 ubiquitin ligase. Mediates the ubiquitination and subsequent proteasomal degradation of CKM, GMEB1 and HIBADH. Regulates the proteasomal degradation of muscle proteins under amino acid starvation, where muscle protein is catabolized to provide other organs with amino acids. Inhibits de novo skeletal muscle protein synthesis under amino acid starvation. Regulates proteasomal degradation of cardiac troponin I/TNNI3 and probably of other sarcomeric-associated proteins. May play a role in striated muscle atrophy and hypertrophy by regulating an anti-hypertrophic PKC-mediated signaling pathway. May regulate the organization of myofibrils through TTN in muscle cells. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 1 +NX_Q969Q4 ADP-ribosylation factor-like protein 11 196 21391 5.96 0 NA Leukemia, chronic lymphocytic May play a role in apoptosis. May act as a tumor suppressor. NA Belongs to the small GTPase superfamily. Arf family. NA PE1 13 +NX_Q969Q5 Ras-related protein Rab-24 203 23124 5.85 0 Membrane;Cytosol;Focal adhesion NA May be involved in autophagy-related processes. Isoprenylation is inefficient compared to other Rab family members. Belongs to the small GTPase superfamily. Rab family. Neutrophil degranulation;RAB geranylgeranylation PE1 5 +NX_Q969Q6 Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma 453 53316 5.07 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Cytosol;Nucleus Spermatogenic failure 36;Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy May regulate MCM3AP phosphorylation through phosphatase recruitment (By similarity). May act as a negative regulator of ABCB1 expression and function through the dephosphorylation of ABCB1 by TFPI2/PPP2R3C complex (PubMed:24333728). May play a role in the activation-induced cell death of B-cells (By similarity). NA NA mRNA surveillance pathway;Dopaminergic synapse PE1 14 +NX_Q969R2 Oxysterol-binding protein 2 916 101266 6.1 0 Membrane;Cytosol NA Binds 7-ketocholesterol. NA Belongs to the OSBP family. NA PE1 22 +NX_Q969R5 Lethal(3)malignant brain tumor-like protein 2 705 79110 6.4 0 Nucleoplasm;Nucleus NA Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility. Its association with a chromatin-remodeling complex suggests that it may contribute to prevent expression of genes that trigger the cell into mitosis. Binds to monomethylated and dimethylated 'Lys-20' on histone H4. Binds histone H3 peptides that are monomethylated or dimethylated on 'Lys-4', 'Lys-9' or 'Lys-27'. NA NA SUMOylation of chromatin organization proteins;Transcriptional Regulation by E2F6 PE1 22 +NX_Q969R8 KICSTOR complex protein ITFG2 447 49313 5.06 0 Endoplasmic reticulum;Nucleoplasm;Lysosome membrane;Cytoskeleton NA As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose. NA NA NA PE1 12 +NX_Q969S0 UDP-xylose and UDP-N-acetylglucosamine transporter 331 37424 9.24 11 Golgi apparatus membrane NA Sugar transporter that specifically mediates the transport of UDP-xylose (UDP-Xyl) and UDP-N-acetylglucosamine (UDP-GlcNAc) from cytosol into Golgi. NA Belongs to the nucleotide-sugar transporter family. SLC35B subfamily. Transport of nucleotide sugars PE1 7 +NX_Q969S2 Endonuclease 8-like 2 332 36826 6.32 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Has DNA glycosylase activity towards 5-hydroxyuracil and other oxidized derivatives of cytosine with a preference for mismatched double-stranded DNA (DNA bubbles). Has low or no DNA glycosylase activity towards thymine glycol, 2-hydroxyadenine, hypoxanthine and 8-oxoguanine. Has AP (apurinic/apyrimidinic) lyase activity and introduces nicks in the DNA strand. Cleaves the DNA backbone by beta-delta elimination to generate a single-strand break at the site of the removed base with both 3'- and 5'-phosphates. NA Belongs to the FPG family. Base excision repair;APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine PE1 8 +NX_Q969S3 Zinc finger protein 622 477 54272 5.8 0 Golgi apparatus;Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA May behave as an activator of the bound transcription factor, MYBL2, and be involved in embryonic development. Phosphorylated by MELK. The phosphorylation may redirect the protein to the nucleus.;ZNF622 is phosphorylated by MELK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA NA PE1 5 +NX_Q969S6 Transmembrane protein 203 136 15760 8.8 4 Endoplasmic reticulum membrane NA Involved in the regulation of cellular calcium homeotasis (PubMed:25996873). Required for spermatogenesis (PubMed:25996873). NA NA NA PE1 9 +NX_Q969S8 Polyamine deacetylase HDAC10 669 71445 5.44 0 Cytoplasm;Nucleus NA Polyamine deacetylase (PDAC), which acts preferentially on N(8)-acetylspermidine, and also on acetylcadaverine and acetylputrescine (PubMed:28516954). Exhibits attenuated catalytic activity toward N(1),N(8)-diacetylspermidine and very low activity, if any, toward N(1)-acetylspermidine (PubMed:28516954). Histone deacetylase activity has been observed in vitro (PubMed:11861901, PubMed:11726666, PubMed:11677242, PubMed:11739383). Has also been shown to be involved in MSH2 deacetylation (PubMed:26221039). The physiological relevance of protein/histone deacetylase activity is unclear and could be very weak (PubMed:28516954). May play a role in the promotion of late stages of autophagy, possibly autophagosome-lysosome fusion and/or lysosomal exocytosis in neuroblastoma cells (PubMed:23801752, PubMed:29968769). May play a role in homologous recombination (PubMed:21247901). May promote DNA mismatch repair (PubMed:26221039). NA Belongs to the histone deacetylase family. HD type 2 subfamily. HDACs deacetylate histones;Notch-HLH transcription pathway;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants PE1 22 +NX_Q969S9 Ribosome-releasing factor 2, mitochondrial 779 86601 6.08 0 Nucleoplasm;Mitochondrion Combined oxidative phosphorylation deficiency 39 Mitochondrial GTPase that mediates the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis. Acts in collaboration with MRRF. GTP hydrolysis follows the ribosome disassembly and probably occurs on the ribosome large subunit. Not involved in the GTP-dependent ribosomal translocation step during translation elongation. NA Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily. Mitochondrial translation termination PE1 5 +NX_Q969T3 Sorting nexin-21 373 41365 5.11 0 Early endosome membrane;Cytoplasmic vesicle;Centriolar satellite;Cytoplasmic vesicle membrane NA Binds to membranes enriched in phosphatidylinositol 3-phosphate (PtdIns(P3)) and phosphatidylinositol 4,5-bisphosphate. May be involved in several stages of intracellular trafficking. NA Belongs to the sorting nexin family. NA PE1 20 +NX_Q969T4 Ubiquitin-conjugating enzyme E2 E3 207 22913 6.73 0 Cytoplasm;Nucleus NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. Participates in the regulation of transepithelial sodium transport in renal cells. May be involved in cell growth arrest. NA Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;Antigen processing: Ubiquitination & Proteasome degradation;Synthesis of active ubiquitin: roles of E1 and E2 enzymes PE1 2 +NX_Q969T7 7-methylguanosine phosphate-specific 5'-nucleotidase 300 34389 5.95 0 Cytoplasm NA Specifically hydrolyzes 7-methylguanosine monophosphate (m(7)GMP) to 7-methylguanosine and inorganic phosphate (PubMed:23223233, PubMed:24603684). The specific activity for m(7)GMP may protect cells against undesired salvage of m(7)GMP and its incorporation into nucleic acids (PubMed:23223233). Also has weak activity for CMP (PubMed:23223233, PubMed:24603684). UMP and purine nucleotides are poor substrates (PubMed:23223233). NA Belongs to the pyrimidine 5'-nucleotidase family. mRNA decay by 3' to 5' exoribonuclease PE1 17 +NX_Q969T9 WW domain-binding protein 2 261 28087 5.65 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus Deafness, autosomal recessive, 107 Acts as transcriptional coactivator of estrogen and progesterone receptors (ESR1 and PGR) upon hormone activation (PubMed:16772533). In presence of estrogen, binds to ESR1-responsive promoters (PubMed:16772533). Required for YAP1 coactivation function on PGR activity (PubMed:16772533). Synergizes with WBP2 in enhancing PGR activity (PubMed:16772533). Modulates expression of post-synaptic scaffolding proteins via regulation of ESR1, ESR2 and PGR (By similarity). Phosphorylated in repsonse to EGF as well as estrogen and progesterone hormones (PubMed:21642474). Tyr-192 and Tyr-231 are phosphorylated by YES and SRC inducing nuclear translocation (PubMed:21642474). NA NA PE1 17 +NX_Q969U6 F-box/WD repeat-containing protein 5 566 63922 5.89 0 Cytoplasm;Mitochondrion NA Substrate recognition component of both SCF (SKP1-CUL1-F-box protein) and DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes. Substrate recognition component of the SCF(FBXW5) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of SASS6 during S phase, leading to prevent centriole reduplication. The SCF(FBXW5) complex also mediates ubiquitination and degradation of actin-regulator EPS8 during G2 phase, leading to the transient degradation of EPS8 and subsequent cell shape changes required to allow mitotic progression. Substrate-specific adapter of the DCX(FBXW5) E3 ubiquitin-protein ligase complex which mediates the polyubiquitination and subsequent degradation of TSC2. May also act as a negative regulator of MAP3K7/TAK1 signaling in the interleukin-1B (IL1B) signaling pathway. Ubiquitinated and degraded by the APC/C complex during mitosis and G1 phase.;Phosphorylated at Ser-151 by PLK4 during the G1/S transition, leading to inhibit its ability to ubiquitinate SASS6. Belongs to the FBXW5 family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Association of TriC/CCT with target proteins during biosynthesis;Neddylation PE1 9 +NX_Q969U7 Proteasome assembly chaperone 2 264 29396 6.61 0 Nucleoplasm;Nucleus NA Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG1. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the heteroheptameric alpha ring and prevents alpha ring dimerization. Degraded by the proteasome upon completion of 20S proteasome maturation. Belongs to the PSMG2 family. NA PE1 18 +NX_Q969V1 Melanin-concentrating hormone receptor 2 340 38849 9.09 7 Cell membrane NA Receptor for melanin-concentrating hormone, coupled to G proteins that activate phosphoinositide hydrolysis. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 6 +NX_Q969V3 Nicalin 563 62974 6.4 1 Endoplasmic reticulum;Nucleoplasm;Endoplasmic reticulum membrane;Lipid droplet NA May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning. NA Belongs to the nicastrin family. NA PE1 19 +NX_Q969V4 Tektin-1 418 48283 5.98 0 Flagellum axoneme;Cilium axoneme NA Structural component of ciliary and flagellar microtubules. Forms filamentous polymers in the walls of ciliary and flagellar microtubules. NA Belongs to the tektin family. NA PE1 17 +NX_Q969V5 Mitochondrial ubiquitin ligase activator of NFKB 1 352 39800 8.46 2 Mitochondrion outer membrane;Mitochondrion;Nucleoplasm;Peroxisome;Cytosol NA Exhibits weak E3 ubiquitin-protein ligase activity (PubMed:18591963, PubMed:19407830, PubMed:22410793). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates (PubMed:18591963, PubMed:19407830, PubMed:22410793). Can ubiquitinate AKT1 preferentially at 'Lys-284' involving 'Lys-48'-linked polyubiquitination and seems to be involved in regulation of Akt signaling by targeting phosphorylated Akt to proteosomal degradation (PubMed:22410793). Proposed to preferentially act as a SUMO E3 ligase at physiological concentrations (PubMed:19407830). Plays a role in the control of mitochondrial morphology by promoting mitochondrial fragmentation, and influences mitochondrial localization (PubMed:19407830, PubMed:18207745, PubMed:18213395). Likely to promote mitochondrial fission through negatively regulating the mitochondrial fusion proteins MFN1 and MFN2, acting in a pathway that is parallel to the PRKN/PINK1 regulatory pathway (PubMed:24898855). May also be involved in the sumoylation of the membrane fission protein DNM1L (PubMed:18207745, PubMed:19407830). Inhibits cell growth (PubMed:18591963, PubMed:22410793). When overexpressed, activates JNK through MAP3K7/TAK1 and induces caspase-dependent apoptosis (PubMed:23399697). Involved in the modulation of innate immune defense against viruses by inhibiting DDX58-dependent antiviral response (PubMed:23399697). Can mediate DDX58 sumoylation and disrupt its polyubiquitination (PubMed:23399697). Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. NA Protein modification; protein ubiquitination.;Protein modification; protein sumoylation.;Ub-specific processing proteases PE1 1 +NX_Q969V6 Myocardin-related transcription factor A 931 98919 5.59 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Transcription coactivator that associates with the serum response factor (SRF) transcription factor to control expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration. The SRF-MRTFA complex activity responds to Rho GTPase-induced changes in cellular globular actin (G-actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics. MRTFA binds G-actin via its RPEL repeats, regulating activity of the MRTFA-SRF complex. Activity is also regulated by filamentous actin (F-actin) in the nucleus. Phosphorylation at Ser-6 by Erk inhibits binding of globular actin (G-actin), unmasking the nuclear localization signal (NLS) and promoting nuclear import. NA RHO GTPases Activate Formins;SUMOylation of transcription cofactors PE1 22 +NX_Q969W0 Serine palmitoyltransferase small subunit A 71 8466 6.7 2 Endoplasmic reticulum membrane NA Stimulates the activity of serine palmitoyltransferase (SPT). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA (PubMed:19416851). Plays a role in MBOAT7 location to mitochondria-associated membranes (MAMs), may me involved in fatty acid remodeling phosphatidylinositol (PI) (PubMed:23510452). NA Belongs to the SPTSS family. SPTSSA subfamily. Lipid metabolism; sphingolipid metabolism.;Sphingolipid de novo biosynthesis PE1 14 +NX_Q969W1 Palmitoyltransferase ZDHHC16 377 43633 9.71 4 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Nucleus membrane NA Palmitoyl acyltransferase that mediates palmitoylation of proteins such as PLN and ZDHHC6 (PubMed:28826475). Required during embryonic heart development and cardiac function, possibly by mediating palmitoylation of PLN, thereby affecting PLN phosphorylation and homooligomerization (By similarity). Also required for eye development (By similarity). Palmitoylates ZDHHC6, affecting the quaternary assembly of ZDHHC6, its localization, stability and function (PubMed:28826475). May play a role in DNA damage response (By similarity). May be involved in apoptosis regulation (By similarity). Involved in the proliferation of neural stem cells by regulating the FGF/ERK pathway (By similarity). NA Belongs to the DHHC palmitoyltransferase family. NA PE1 10 +NX_Q969W3 Protein FAM104A 186 19484 11.26 0 Nucleoplasm;Cytosol NA NA NA Belongs to the FAM104 family. NA PE1 17 +NX_Q969W8 Zinc finger protein 566 418 49219 8.36 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q969W9 Protein TMEPAI 287 31609 6.41 1 Early endosome membrane;Cytoplasmic vesicle;Golgi apparatus membrane NA Functions as a negative regulator of TGF-beta signaling and thereby probably plays a role in cell proliferation, differentiation, apoptosis, motility, extracellular matrix production and immunosuppression. In the canonical TGF-beta pathway, ZFYVE9/SARA recruits the intracellular signal transducer and transcriptional modulators SMAD2 and SMAD3 to the TGF-beta receptor. Phosphorylated by the receptor, SMAD2 and SMAD3 then form a heteromeric complex with SMAD4 that translocates to the nucleus to regulate transcription. Through interaction with SMAD2 and SMAD3, LDLRAD4 may compete with ZFYVE9 and SMAD4 and prevent propagation of the intracellular signal (PubMed:20129061, PubMed:24627487). Also involved in down-regulation of the androgen receptor (AR), enhancing ubiquitination and proteasome-mediated degradation of AR, probably by recruiting NEDD4 (PubMed:18703514). NA Belongs to the PMEPA1 family. Downregulation of TGF-beta receptor signaling PE1 20 +NX_Q969X0 RILP-like protein 2 211 23986 4.95 0 Cytosol;Centrosome;Cilium NA Involved in cell shape and neuronal morphogenesis, positively regulating the establishment and maintenance of dendritic spines (By similarity). Plays a role in cellular protein transport, including protein transport away from primary cilia (By similarity). May function via activation of RAC1 and PAK1 (By similarity). NA Belongs to the RILPL family. NA PE1 12 +NX_Q969X1 Protein lifeguard 3 311 34607 7.6 7 Membrane;Cytoplasmic vesicle;Lysosome membrane;Endosome membrane NA Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role in vascular remodeling. NA Belongs to the BI1 family. LFG subfamily. Neutrophil degranulation PE1 2 +NX_Q969X2 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 333 38068 9.91 1 Golgi apparatus membrane NA Alpha-2,6-sialyltransferase involved in the synthesis of alpha-series gangliosides. Has activity toward GD1a, GT1b and GM1b. Has no activity toward glycoproteins. Responsible for the biosynthesis of DSGG (disialylgalactosylgloboside) from MSGG (monosialylgalactosylgloboside) in normal and malignant kidney. Participates in the synthesis of disialyl Lewis a (Le(a)). NA Belongs to the glycosyltransferase 29 family. Glycosphingolipid biosynthesis - ganglio series;Metabolic pathways;Sialic acid metabolism;Lewis blood group biosynthesis PE1 9 +NX_Q969X5 Endoplasmic reticulum-Golgi intermediate compartment protein 1 290 32592 6.59 2 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane;Nucleoplasm;Centrosome;Golgi apparatus membrane;Cytoplasmic vesicle Arthrogryposis multiplex congenita, neurogenic type Possible role in transport between endoplasmic reticulum and Golgi. N-glycosylated. Belongs to the ERGIC family. NA PE1 5 +NX_Q969X6 U3 small nucleolar RNA-associated protein 4 homolog 686 76890 9.03 0 Nucleolus;Chromosome NA Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Involved in small subunit (SSU) pre-rRNA processing at sites A', A0, 1 and 2b. Required for optimal pre-ribosomal RNA transcription by RNA polymerase (PubMed:17699751, PubMed:19732766). May be a transcriptional regulator. Acts as a positive regulator of HIVEP1 which specifically binds to the DNA sequence 5'-GGGACTTTCC-3' found in enhancer elements of numerous viral promoters such as those of HIV-1, SV40, or CMV (PubMed:19732766). May be phosphorylated during mitosis; may control the association of this protein with WRD43 and UTP15. NA Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 16 +NX_Q969Y0 NXPE family member 3 559 63800 9.05 0 Nucleoplasm;Secreted;Cytoplasmic vesicle NA NA NA Belongs to the NXPE family. NA PE1 3 +NX_Q969Y2 tRNA modification GTPase GTPBP3, mitochondrial 492 52058 6.03 0 Mitochondrion Combined oxidative phosphorylation deficiency 23 GTPase involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs. NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. TrmE GTPase family. tRNA modification in the mitochondrion PE1 19 +NX_Q969Z0 FAST kinase domain-containing protein 4 631 70738 6.98 0 Mitochondrion matrix;Mitochondrion NA Plays a role in processing of mitochondrial RNA precursors and in stabilization of a subset of mature mitochondrial RNA species, such as MT-CO1, MT-CO2, MT-CYB, MT-CO3, MT-ND3, MT-ND5 and MT-ATP8/6. May play a role in cell cycle progression (PubMed:9383053). NA Belongs to the FAST kinase family. NA PE1 7 +NX_Q969Z3 Mitochondrial amidoxime reducing component 2 335 38023 9.32 0 Mitochondrion outer membrane;Peroxisome;Mitochondrion NA As a component of the benzamidoxime prodrug-converting complex required to reduce N-hydroxylated prodrugs, such as benzamidoxime. Also able to reduce N(omega)-hydroxy-L-arginine (NOHA) and N(omega)-hydroxy-N(delta)-methyl-L-arginine (NHAM) into L-arginine and N(delta)-methyl-L-arginine, respectively. Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. NA Phase I - Functionalization of compounds PE1 1 +NX_Q969Z4 Tumor necrosis factor receptor superfamily member 19L 430 46092 8.75 1 Nucleoplasm;Cytoplasm;Perinuclear region;Cell membrane Amelogenesis imperfecta 3C May play a role in apoptosis (PubMed:28688764, PubMed:19969290). Induces activation of MAPK14/p38 and MAPK8/JNK MAPK cascades, when overexpressed (PubMed:16530727). Involved in dental enamel formation (PubMed:30506946). Phosphorylated in vitro by OXSR1 (PubMed:16389068). Phosphorylated by STK39 (PubMed:16530727).;RELT is phosphorylated by STK39 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the RELT family. Cytokine-cytokine receptor interaction PE1 11 +NX_Q96A00 Protein phosphatase 1 regulatory subunit 14A 147 16693 9.41 0 Cytoplasm;Nucleoplasm;Nucleus NA Inhibitor of PPP1CA. Has over 1000-fold higher inhibitory activity when phosphorylated, creating a molecular switch for regulating the phosphorylation status of PPP1CA substrates and smooth muscle contraction. NA Belongs to the PP1 inhibitor family. Vascular smooth muscle contraction;RHO GTPases activate PKNs PE1 19 +NX_Q96A04 TSSK6-activating co-chaperone protein 125 13670 9.18 0 Nucleoplasm;Nucleus NA Co-chaperone that facilitates HSP-mediated activation of TSSK6. NA Belongs to the TSACC family. NA PE1 1 +NX_Q96A05 V-type proton ATPase subunit E 2 226 26074 8.79 0 NA NA Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. This isoform is essential for energy coupling involved in acidification of acrosome (By similarity). NA Belongs to the V-ATPase E subunit family. Oxidative phosphorylation;Metabolic pathways;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE1 2 +NX_Q96A08 Histone H2B type 1-A 127 14167 10.31 0 Nucleus;Chromosome NA Variant histone specifically required to direct the transformation of dissociating nucleosomes to protamine in male germ cells (By similarity). Entirely replaces classical histone H2B prior nucleosome to protamine transition and probably acts as a nucleosome dissociating factor that creates a more dynamic chromatin, facilitating the large-scale exchange of histones (By similarity). Core component of nucleosome (By similarity). Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template (By similarity). Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability (By similarity). DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling (By similarity). Also found in fat cells, its function and the presence of post-translational modifications specific to such cells are still unclear (PubMed:21249133). Methylated at Lys-118 in spermatogonia, spermatocytes and round spermatids.;Acetylated during spermatogenesis. Acetylated form is most abundant in spermatogonia compared to spermatocytes and round spermatids (By similarity).;Phosphorylated at Thr-117 in spermatogonia, spermatocytes and round spermatids.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Monoubiquitination at Lys-36 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-122 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons. Belongs to the histone H2B family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;G2/M DNA damage checkpoint;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Ub-specific processing proteases;E3 ubiquitin ligases ubiquitinate target proteins;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 6 +NX_Q96A09 Terminal nucleotidyltransferase 5B 425 46688 8.39 0 NA NA Probable nucleotidyltransferase that may act as a non-canonical poly(A) RNA polymerase. NA Belongs to the TENT family. NA PE1 1 +NX_Q96A11 Galactose-3-O-sulfotransferase 3 431 48956 9.96 1 Golgi stack membrane NA Transfers a sulfate to position 3 of non-reducing beta-galactosyl residues in N-glycans and core2-branched O-glycans. Has high activity towards Gal-beta-1,4-GlcNAc, Gal-beta-1,4(Fuc-alpha-1,3)GlcNAc and lower activity towards Gal-beta-1,3(Fuc-alpha-1,4)GlcNAc. NA Belongs to the galactose-3-O-sulfotransferase family. Protein modification; carbohydrate sulfation. PE1 11 +NX_Q96A19 Coiled-coil domain-containing protein 102A 550 62596 5.49 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 16 +NX_Q96A22 Uncharacterized protein C11orf52 123 13921 9.51 0 Cell junction NA NA NA NA NA PE1 11 +NX_Q96A23 Copine-4 557 62395 5.92 0 Nucleoplasm;Cytosol NA Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes. NA Belongs to the copine family. NA PE1 3 +NX_Q96A25 Transmembrane protein 106A 262 28920 6.74 1 Cell membrane NA Activates macrophages and polarizes them into M1-like macrophages through the activation of the MAPK and NF-kappaB signaling pathway. Upon activation, upregulates the expression of CD80, CD86, CD69 and MHC II on macrophages, and induces the release of pro-inflammatory cytokines such as TNF, IL1B, IL6, CCL2 and nitric oxide (By similarity). May play a role in inhibition of proliferation and migration (PubMed:30456879, PubMed:29131025). NA Belongs to the TMEM106 family. NA PE1 17 +NX_Q96A26 Protein FAM162A 154 17342 9.81 1 Membrane;Cytosol;Mitochondrion NA Proposed to be involved in regulation of apoptosis; the exact mechanism may differ between cell types/tissues. May be involved in hypoxia-induced cell death of transformed cells implicating cytochrome C release and caspase activation (such as CASP9) and inducing mitochondrial permeability transition. May be involved in hypoxia-induced cell death of neuronal cells probably by promoting release of AIFM1 from mitochondria to cytoplasm and its translocation to the nucleus; however, the involvement of caspases has been reported conflictingly. NA Belongs to the UPF0389 family. NA PE1 3 +NX_Q96A28 SLAM family member 9 289 32436 7.58 1 Membrane NA May play a role in the immune response. NA NA NA PE2 1 +NX_Q96A29 GDP-fucose transporter 1 364 39809 8.66 8 Golgi apparatus;Golgi apparatus membrane Congenital disorder of glycosylation 2C Involved in GDP-fucose import from the cytoplasm into the Golgi lumen. NA Belongs to the TPT transporter family. SLC35C subfamily. Transport of nucleotide sugars;Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C);GDP-fucose biosynthesis PE1 11 +NX_Q96A32 Myosin regulatory light chain 2, skeletal muscle isoform 169 19015 4.91 0 NA NA NA NA NA Focal adhesion;Tight junction;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Smooth Muscle Contraction PE1 16 +NX_Q96A33 Coiled-coil domain-containing protein 47 483 55874 4.76 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Rough endoplasmic reticulum membrane Trichohepatoneurodevelopmental syndrome Involved in the regulation of calcium ion homeostasis in the endoplasmic reticulum (PubMed:30401460). Required for proper protein degradation via the ERAD pathway (PubMed:25009997). Has an essential role in the maintenance of endoplasmic reticulum organization during embryogenesis (By similarity). NA NA NA PE1 17 +NX_Q96A35 39S ribosomal protein L24, mitochondrial 216 24915 9.33 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uL24 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 1 +NX_Q96A37 E3 ubiquitin-protein ligase RNF166 237 26122 8.42 0 Nucleoplasm;Cytosol;Cytoplasm;Cell membrane NA E3 ubiquitin-protein ligase that promotes the ubiquitination of different substrates (PubMed:27880896). In turn, participates in different biological processes including interferon production or autophagy (PubMed:26456228, PubMed:27880896). Plays a role in the activation of RNA virus-induced interferon-beta production by promoting the ubiquitination of TRAF3 and TRAF6 (PubMed:26456228). Plays also a role in the early recruitment of autophagy adapters to bacteria (PubMed:27880896). Mediates 'Lys-29' and 'Lys-33'-linked ubiquitination of SQSTM1 leading to xenophagic targeting of bacteria and inhibition of their replication (PubMed:27880896). NA NA Protein modification; protein ubiquitination. PE1 16 +NX_Q96A44 SPRY domain-containing SOCS box protein 4 273 30179 9.39 0 Nucleoplasm;Golgi apparatus;Cytosol;Cytoplasm NA Substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:21199876, PubMed:15601820). Negatively regulates nitric oxide (NO) production and limits cellular toxicity in activated macrophages by mediating the ubiquitination and proteasomal degradation of NOS2 (PubMed:21199876). Acts as a bridge which links NOS2 with the ECS E3 ubiquitin ligase complex components ELOC and CUL5 (PubMed:21199876). Diminishes EphB2-dependent cell repulsive responses by mediating the ubiquitination and degradation of EphB2/CTF2 (PubMed:28931592). Regulates cellular clock function by mediating the ubiquitin/proteasome-dependent degradation of the circadian transcriptional repressor NR1D1 (PubMed:26392558). NA Belongs to the SPSB family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 3 +NX_Q96A46 Mitoferrin-2 364 39272 8.86 6 Mitochondrion inner membrane NA Mitochondrial iron transporter that mediates iron uptake. Probably required for heme synthesis of hemoproteins and Fe-S cluster assembly in non-erythroid cells. The iron delivered into the mitochondria, presumably as Fe(2+), is then probably delivered to ferrochelatase to catalyze Fe(2+) incorporation into protoprophyrin IX to make heme (By similarity). NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Mitochondrial iron-sulfur cluster biogenesis PE1 10 +NX_Q96A47 Insulin gene enhancer protein ISL-2 359 39768 8.64 0 Cytoplasm;Nucleus NA Transcriptional factor that defines subclasses of motoneurons that segregate into columns in the spinal cord and select distinct axon pathways. NA NA NA PE1 15 +NX_Q96A49 Synapse-associated protein 1 352 39933 4.45 0 Golgi apparatus;Presynaptic cell membrane;Postsynaptic cell membrane;Perikaryon;Growth cone;Membrane;Nucleoplasm;Dendrite;Cytosol;Axon;Perinuclear region NA Plays a role in adipocyte differentiation by promoting mTORC2-mediated phosphorylation of AKT1 at 'Ser-473' after growth factor stimulation (PubMed:23300339). Phosphorylated. Phosphorylation increases in a mTORC2-mediated manner in response to epidermal growth factor (EGF) stimulation. NA NA PE1 X +NX_Q96A54 Adiponectin receptor protein 1 375 42616 6.53 7 Cell membrane NA Receptor for ADIPOQ, an essential hormone secreted by adipocytes that regulates glucose and lipid metabolism (PubMed:25855295, PubMed:12802337). Required for normal glucose and fat homeostasis and for maintaining a normal body weight. ADIPOQ-binding activates a signaling cascade that leads to increased AMPK activity, and ultimately to increased fatty acid oxidation, increased glucose uptake and decreased gluconeogenesis. Has high affinity for globular adiponectin and low affinity for full-length adiponectin (By similarity). NA Belongs to the ADIPOR family. Adipocytokine signaling pathway;AMPK inhibits chREBP transcriptional activation activity PE1 1 +NX_Q96A56 Tumor protein p53-inducible nuclear protein 1 240 27366 4.75 0 Cytosol;Autophagosome;PML body;Nucleus NA Antiproliferative and proapoptotic protein involved in cell stress response which acts as a dual regulator of transcription and autophagy. Acts as a positive regulator of autophagy. In response to cellular stress or activation of autophagy, relocates to autophagosomes where it interacts with autophagosome-associated proteins GABARAP, GABARAPL1/L2, MAP1LC3A/B/C and regulates autophagy. Acts as an antioxidant and plays a major role in p53/TP53-driven oxidative stress response. Possesses both a p53/TP53-independent intracellular reactive oxygen species (ROS) regulatory function and a p53/TP53-dependent transcription regulatory function. Positively regulates p53/TP53 and p73/TP73 and stimulates their capacity to induce apoptosis and regulate cell cycle. In response to double-strand DNA breaks, promotes p53/TP53 phosphorylation on 'Ser-46' and subsequent apoptosis. Acts as a tumor suppressor by inducing cell death by an autophagy and caspase-dependent mechanism. Can reduce cell migration by regulating the expression of SPARC. NA NA HTLV-I infection;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;Regulation of TP53 Activity through Phosphorylation PE1 8 +NX_Q96A57 Transmembrane protein 230 120 13188 9.3 2 trans-Golgi network;Recycling endosome;Early endosome;Membrane;Endoplasmic reticulum;Autophagosome;Late endosome;Synaptic vesicle Parkinson disease Involved in trafficking and recycling of synaptic vesicles. NA Belongs to the TMEM134/TMEM230 family. NA PE1 20 +NX_Q96A58 Ras-related and estrogen-regulated growth inhibitor 199 22608 6.91 0 Cytoplasm NA Binds GDP/GTP and possesses intrinsic GTPase activity. Has higher affinity for GDP than for GTP. In cell lines overexpression leads to a reduction in the rate of proliferation, colony formation and in tumorigenic potential. NA Belongs to the small GTPase superfamily. Ras family. NA PE1 12 +NX_Q96A59 MARVEL domain-containing protein 3 401 44911 8.84 4 Membrane;Cytoplasmic vesicle;Tight junction;Cytoskeleton NA As a component of tight junctions, plays a role in paracellular ion conductivity. NA NA NA PE1 16 +NX_Q96A61 Tripartite motif-containing protein 52 297 34653 4.14 0 Nucleolus;Cytoskeleton NA NA Ubiquitinated. Belongs to the TRIM/RBCC family. NA PE1 5 +NX_Q96A65 Exocyst complex component 4 974 110498 6.07 0 Cytoplasm;Cell projection;Nucleolus;Nucleoplasm;Cytosol;Midbody ring NA Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. NA Belongs to the SEC8 family. Tight junction;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Insulin processing;VxPx cargo-targeting to cilium PE1 7 +NX_Q96A70 Antizyme inhibitor 2 460 49980 5.4 0 trans-Golgi network;Cytoplasm;Perinuclear region;Endoplasmic reticulum-Golgi intermediate compartment;Cytoplasmic granule;Perikaryon;Membrane;cis-Golgi network;Cytoplasmic vesicle;Cytosol;Axon;Dendrite;Nucleus NA Antizyme inhibitor (AZI) protein that positively regulates ornithine decarboxylase (ODC) activity and polyamine uptake. AZI is an enzymatically inactive ODC homolog that counteracts the negative effect of ODC antizymes (AZs) OAZ1, OAZ2 and OAZ3 on ODC activity by competing with ODC for antizyme-binding (PubMed:17900240). Inhibits antizyme-dependent ODC degradation and releases ODC monomers from their inactive complex with antizymes, leading to formation of the catalytically active ODC homodimer and restoring polyamine production (PubMed:17900240). Participates in the morphological integrity of the trans-Golgi network (TGN) and functions as a regulator of intracellular secretory vesicle trafficking (PubMed:20188728). Ubiquitinated, leading to its proteasomal degradation; a process that is reduced in presence of antizymes. May also be degraded through the lysosomal degradative pathway in a proteasomal-independent manner. Belongs to the Orn/Lys/Arg decarboxylase class-II family. ODC antizyme inhibitor subfamily. Arginine and proline metabolism;Metabolic pathways;Agmatine biosynthesis PE1 1 +NX_Q96A72 Protein mago nashi homolog 2 148 17276 5.96 0 Nucleus NA Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:29301961, PubMed:30705154). Plays a redundant role with MAGOH in the exon junction complex and in the nonsense-mediated decay (NMD) pathway (PubMed:23917022). NA Belongs to the mago nashi family. RNA transport;mRNA surveillance pathway;Spliceosome;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Regulation of expression of SLITs and ROBOs;RNA Polymerase II Transcription Termination PE1 12 +NX_Q96A73 Putative monooxygenase p33MONOX 305 33247 9.39 0 Cytoplasm;Nucleoplasm NA Potential NADPH-dependent oxidoreductase. May be involved in the regulation of neuronal survival, differentiation and axonal outgrowth. NA Belongs to the P33MONOX family. NA PE1 5 +NX_Q96A83 Collagen alpha-1(XXVI) chain 441 45381 7.02 0 Cytoplasmic vesicle;Extracellular matrix NA NA Hydroxylated on proline residues. NA Collagen degradation;Collagen biosynthesis and modifying enzymes;Collagen chain trimerization PE1 7 +NX_Q96A84 EMI domain-containing protein 1 441 45292 9.31 0 Extracellular matrix NA NA NA NA NA PE1 22 +NX_Q96A98 Tuberoinfundibular peptide of 39 residues 100 11202 11.83 0 Secreted NA Plays a role as a potent and selective agonist of PTH2R resulting in adenyl cyclase activation and intracellular calcium levels elevation. Induces protein kinase C beta activation, recruitment of beta-arrestin and PTH2R internalization. May inhibit cell proliferation via its action on PTH2R activation. Neuropeptide which may also have a role in spermatogenesis. May activate nociceptors and nociceptive circuits. NA Belongs to the parathyroid hormone family. G alpha (s) signalling events;Class B/2 (Secretin family receptors) PE1 19 +NX_Q96A99 Pentraxin-4 478 52339 9.64 0 Secreted NA NA NA NA NA PE2 16 +NX_Q96AA3 Protein RFT1 homolog 541 60335 9.07 12 Membrane;Cytoplasmic vesicle Congenital disorder of glycosylation 1N May be involved in N-linked oligosaccharide assembly. May participate in the translocation of oligosaccharide from the cytoplasmic side to the lumenal side of the endoplasmic reticulum membrane. NA Belongs to the RFT1 family. N-Glycan biosynthesis;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein;Defective RFT1 causes RFT1-CDG (CDG-1n) PE1 3 +NX_Q96AA8 Janus kinase and microtubule-interacting protein 2 810 94934 5.88 0 Golgi apparatus NA NA NA Belongs to the JAKMIP family. NA PE1 5 +NX_Q96AB3 Isochorismatase domain-containing protein 2 205 22337 7.67 0 Cytoplasm;Cytosol;Mitochondrion;Nucleus NA NA NA Belongs to the isochorismatase family. NA PE1 19 +NX_Q96AB6 Protein N-terminal asparagine amidohydrolase 310 34677 5.82 0 Golgi apparatus;Cytoplasm;Nucleoplasm NA N-terminal asparagine deamidase that mediates deamidation of N-terminal asparagine residues to aspartate. Required for the ubiquitin-dependent turnover of intracellular proteins that initiate with Met-Asn. These proteins are acetylated on the retained initiator methionine and can subsequently be modified by the removal of N-acetyl methionine by acylaminoacid hydrolase (AAH). Conversion of the resulting N-terminal asparagine to aspartate by NTAN1/PNAD renders the protein susceptible to arginylation, polyubiquitination and degradation as specified by the N-end rule. This enzyme does not act on substrates with internal or C-terminal asparagines and does not act on glutamine residues in any position, nor on acetylated N-terminal peptidyl Asn. NA NA NA PE1 16 +NX_Q96AC1 Fermitin family homolog 2 680 77861 6.26 0 Cytoplasm;Cell cortex;Focal adhesion;Lamellipodium membrane;Cell surface;Membrane;Stress fiber;Nucleoplasm;Nucleus;I band;Cytoskeleton NA Scaffolding protein that enhances integrin activation mediated by TLN1 and/or TLN2, but activates integrins only weakly by itself. Binds to membranes enriched in phosphoinositides. Enhances integrin-mediated cell adhesion onto the extracellular matrix and cell spreading; this requires both its ability to interact with integrins and with phospholipid membranes. Required for the assembly of focal adhesions. Participates in the connection between extracellular matrix adhesion sites and the actin cytoskeleton and also in the orchestration of actin assembly and cell shape modulation. Recruits FBLIM1 to focal adhesions. Plays a role in the TGFB1 and integrin signaling pathways. Stabilizes active CTNNB1 and plays a role in the regulation of transcription mediated by CTNNB1 and TCF7L2/TCF4 and in Wnt signaling. NA Belongs to the kindlin family. Cell-extracellular matrix interactions PE1 14 +NX_Q96AC6 Kinesin-like protein KIFC2 838 90147 9.62 0 Nucleoplasm;Cytosol;Cytoskeleton NA May play a role in microtubule-dependent retrograde axonal transport. May function as the motor for the transport of multivesicular body (MVB)-like organelles in dendrites (By similarity). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 8 +NX_Q96AD5 Patatin-like phospholipase domain-containing protein 2 504 55316 6.65 1 Nucleoplasm;Cell membrane;Lipid droplet Neutral lipid storage disease with myopathy Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets (PubMed:15550674). Also has acylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulates adiposome size and may be involved in the degradation of adiposomes (PubMed:16239926). May play an important role in energy homeostasis. May play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providing free fatty acids to other tissues to be oxidized in situations of energy depletion. Phosphorylation at Ser-404 by PKA is increased during fasting and moderate intensity exercise, and moderately increases lipolytic activity (By similarity). Phosphorylation at Ser-404 is increased upon beta-adrenergic stimulation. NA Glycerolipid metabolism; triacylglycerol degradation.;Acyl chain remodeling of DAG and TAG;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 11 +NX_Q96AE4 Far upstream element-binding protein 1 644 67560 7.18 0 Nucleoplasm;Nucleus NA Regulates MYC expression by binding to a single-stranded far-upstream element (FUSE) upstream of the MYC promoter. May act both as activator and repressor of transcription. Ubiquitinated. This targets the protein for proteasome-mediated degradation. NA NA PE1 1 +NX_Q96AE7 Tetratricopeptide repeat protein 17 1141 129558 6.11 0 Cytoplasm;Cytosol;Cytoskeleton;Cell membrane NA Plays a role in primary ciliogenesis by modulating actin polymerization. NA Belongs to the TTC17 family. NA PE1 11 +NX_Q96AG3 Solute carrier family 25 member 46 418 46174 6.97 6 Mitochondrion outer membrane;Mitochondrion Neuropathy, hereditary motor and sensory, 6B May play a role in mitochondrial dynamics by controlling mitochondrial membrane fission. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 5 +NX_Q96AG4 Leucine-rich repeat-containing protein 59 307 34930 9.61 1 Microsome membrane;Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus envelope NA Required for nuclear import of FGF1, but not that of FGF2. Might regulate nuclear import of exogenous FGF1 by facilitating interaction with the nuclear import machinery and by transporting cytosolic FGF1 to, and possibly through, the nuclear pores. NA NA NA PE1 17 +NX_Q96AH0 SOSS complex subunit B2 204 22423 9.63 0 Nucleoplasm;Cytosol;Nucleus NA Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. In the SOSS complex, acts as a sensor of single-stranded DNA that binds to single-stranded DNA, in particular to polypyrimidines. The SOSS complex associates with DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination-dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways. NA Belongs to the SOSS-B family. SOSS-B2 subfamily. RNA polymerase II transcribes snRNA genes PE1 2 +NX_Q96AH8 Ras-related protein Rab-7b 199 22511 6.31 0 trans-Golgi network;Golgi apparatus;Phagosome membrane;Phagosome;Late endosome;Lysosome NA Controls vesicular trafficking from endosomes to the trans-Golgi network (TGN). Acts as a negative regulator of TLR9 signaling and can suppress TLR9-triggered TNFA, IL6, and IFNB production in macrophages by promoting TLR9 lysosomal degradation. Also negatively regulates TLR4 signaling in macrophages by promoting lysosomal degradation of TLR4. Promotes megakaryocytic differentiation by increasing NF-kappa-B-dependent IL6 production and subsequently enhancing the association of STAT3 with GATA1. Not involved in the regulation of the EGF- and EGFR degradation pathway. NA Belongs to the small GTPase superfamily. Rab family. Phagosome;Salmonella infection;Amoebiasis;RAB GEFs exchange GTP for GDP on RABs;TBC/RABGAPs;RAB geranylgeranylation PE1 1 +NX_Q96AJ1 Clusterin-associated protein 1 413 48125 4.68 0 Cytoplasmic vesicle;Nucleoplasm;Cilium;Nucleus NA Required for cilia biogenesis. Appears to function within the multiple intraflagellar transport complex B (IFT-B). Key regulator of hedgehog signaling. NA Belongs to the CLUAP1 family. Intraflagellar transport PE1 16 +NX_Q96AJ9 Vesicle transport through interaction with t-SNAREs homolog 1A 217 25218 6.06 1 Golgi apparatus;Cytoplasmic vesicle;Golgi apparatus membrane NA V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. Involved in vesicular transport from the late endosomes to the trans-Golgi network. Along with VAMP7, involved in an non-conventional RAB1-dependent traffic route to the cell surface used by KCNIP1 and KCND2. May be involved in increased cytokine secretion associated with cellular senescence. NA Belongs to the VTI1 family. SNARE interactions in vesicular transport;Intra-Golgi traffic;Retrograde transport at the Trans-Golgi-Network PE1 10 +NX_Q96AK3 DNA dC->dU-editing enzyme APOBEC-3D 386 46598 8.73 0 Cytoplasm;P-body NA DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. Exhibits antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single-or double-stranded RNA. May inhibit the mobility of LTR and non-LTR retrotransposons. NA Belongs to the cytidine and deoxycytidylate deaminase family. NA PE1 22 +NX_Q96AM1 Mas-related G-protein coupled receptor member F 343 38171 8.96 7 Nucleus membrane;Cell membrane NA Orphan receptor. May bind to a neuropeptide and may regulate nociceptor function and/or development, including the sensation or modulation of pain (By similarity). NA Belongs to the G-protein coupled receptor 1 family. Mas subfamily. NA PE1 11 +NX_Q96AN5 Transmembrane protein 143 459 51715 9.69 2 Membrane;Nucleolus NA NA NA NA NA PE1 19 +NX_Q96AP0 Adrenocortical dysplasia protein homolog 458 48967 5.16 0 Telomere;Nucleus Dyskeratosis congenita, autosomal dominant, 6;Dyskeratosis congenita, autosomal recessive, 7 Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends. Without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 to single-stranded telomeric DNA. Modulates the inhibitory effects of POT1 on telomere elongation. The ACD-POT1 heterodimer enhances telomere elongation by recruiting telomerase to telomeres and increasing its processivity. May play a role in organogenesis. NA NA Meiotic synapsis;Packaging Of Telomere Ends;DNA Damage/Telomere Stress Induced Senescence;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine PE1 16 +NX_Q96AP4 Zinc finger-containing ubiquitin peptidase 1 578 65959 6.05 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Deubiquitinase with endodeubiquitinase activity that specifically interacts with and cleaves 'Lys-63'-linked long polyubiquitin chains. Shows only weak activity against 'Lys-11' and 'Lys-48'-linked chains (PubMed:29576528, PubMed:29563501, PubMed:29476094). Plays an important role in genome stability pathways, functioning to prevent spontaneous DNA damage and also promote cellular survival in response to exogenous DNA damage (PubMed:29576528, PubMed:29576527). Modulates the ubiquitination status of replication protein A (RPA) complex proteins in response to replication stress (PubMed:29563501). NA Belongs to the peptidase C78 family. ZUFSP subfamily. NA PE1 6 +NX_Q96AP7 Endothelial cell-selective adhesion molecule 390 41176 9.42 1 Tight junction;Adherens junction;Cytoskeleton;Cell membrane NA Can mediate aggregation most likely through a homophilic molecular interaction. NA NA Cell adhesion molecules (CAMs);Leukocyte transendothelial migration;Cell surface interactions at the vascular wall PE1 11 +NX_Q96AQ1 Coiled-coil domain-containing protein 74A 378 41605 10.52 0 Nucleus NA NA NA NA NA PE1 2 +NX_Q96AQ2 Transmembrane protein 125 219 22172 8.32 4 Membrane;Cytosol;Midbody NA NA NA NA NA PE2 1 +NX_Q96AQ6 Pre-B-cell leukemia transcription factor-interacting protein 1 731 80643 5.21 0 Cytoplasmic vesicle;Cytosol;Nucleus;Cytoskeleton NA Regulator of pre-B-cell leukemia transcription factors (BPXs) function. Inhibits the binding of PBX1-HOX complex to DNA and blocks the transcriptional activity of E2A-PBX1. Tethers estrogen receptor-alpha (ESR1) to microtubules and allows them to influence estrogen receptors-alpha signaling. NA NA NA PE1 1 +NX_Q96AQ7 Cell death activator CIDE-3 238 26754 8.95 0 Endoplasmic reticulum;Nucleus;Lipid droplet Lipodystrophy, familial partial, 5 Binds to lipid droplets and regulates their enlargement, thereby restricting lipolysis and favoring storage. At focal contact sites between lipid droplets, promotes directional net neutral lipid transfer from the smaller to larger lipid droplets. The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair. Its role in neutral lipid transfer and lipid droplet enlargement is activated by the interaction with PLIN1. May act as a CEBPB coactivator in the white adipose tissue to control the expression of a subset of CEBPB downstream target genes, including SOCS1, SOCS3, TGFB1, TGFBR1, ID2 and XDH. When overexpressed in preadipocytes, induces apoptosis or increases cell susceptibility to apoptosis induced by serum deprivation or TGFB treatment. As mature adipocytes, that express high CIDEC levels, are quite resistant to apoptotic stimuli, the physiological significance of its role in apoptosis is unclear. May play a role in the modulation of the response to osmotic stress by preventing NFAT5 to translocate into the nucleus and activate its target genes expression. Ubiquitinated and targeted to proteasomal degradation, resulting in a short half-life. Protein stability depends on triaclyglycerol synthesis, fatty acid availability and lipid droplet formation (By similarity). NA Assembly of active LPL and LIPC lipase complexes;Lipid particle organization PE1 3 +NX_Q96AQ8 Mitochondrial calcium uniporter regulator 1 359 39694 9.67 2 Mitochondrion inner membrane NA Key regulator of mitochondrial calcium uniporter (MCU) required for calcium entry into mitochondrion (PubMed:23178883, PubMed:26445506, PubMed:27184846, PubMed:26976564). Plays a direct role in uniporter-mediated calcium uptake via a direct interaction with MCU (PubMed:23178883). Probably involved in the assembly of the membrane components of the uniporter complex (uniplex) (PubMed:27184846). NA Belongs to the CCDC90 family. NA PE1 6 +NX_Q96AQ9 Protein FAM131C 280 30351 4.51 0 Cytosol;Nucleolus;Cytoskeleton NA NA NA Belongs to the FAM131 family. NA PE1 1 +NX_Q96AT1 Uncharacterized protein KIAA1143 154 17465 5.86 0 Nucleoplasm;Cytoskeleton NA NA NA NA NA PE1 3 +NX_Q96AT9 Ribulose-phosphate 3-epimerase 228 24928 5.33 0 NA NA Catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate. NA Belongs to the ribulose-phosphate 3-epimerase family. Carbohydrate degradation.;Pentose phosphate pathway;Pentose and glucuronate interconversions;Metabolic pathways;Pentose phosphate pathway PE1 2 +NX_Q96AV8 Transcription factor E2F7 911 99888 8.33 0 Nucleus speckle;Nucleus NA Atypical E2F transcription factor that participates in various processes such as angiogenesis, polyploidization of specialized cells and DNA damage response. Mainly acts as a transcription repressor that binds DNA independently of DP proteins and specifically recognizes the E2 recognition site 5'-TTTC[CG]CGC-3'. Directly represses transcription of classical E2F transcription factors such as E2F1. Acts as a regulator of S-phase by recognizing and binding the E2-related site 5'-TTCCCGCC-3' and mediating repression of G1/S-regulated genes. Plays a key role in polyploidization of cells in placenta and liver by regulating the endocycle, probably by repressing genes promoting cytokinesis and antagonizing action of classical E2F proteins (E2F1, E2F2 and/or E2F3). Required for placental development by promoting polyploidization of trophoblast giant cells. Also involved in DNA damage response: up-regulated by p53/TP53 following genotoxic stress and acts as a downstream effector of p53/TP53-dependent repression by mediating repression of indirect p53/TP53 target genes involved in DNA replication. Acts as a promoter of sprouting angiogenesis, possibly by acting as a transcription activator: associates with HIF1A, recognizes and binds the VEGFA promoter, which is different from canonical E2 recognition site, and activates expression of the VEGFA gene. Acts as a negative regulator of keratinocyte differentiation. NA Belongs to the E2F/DP family. TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest PE1 12 +NX_Q96AW1 Vesicular, overexpressed in cancer, prosurvival protein 1 172 19224 8.77 1 Golgi apparatus;Cytoplasmic vesicle membrane NA Increases the transcriptional activity of NFKB1 by facilitating its nuclear translocation, DNA-binding and associated apoptotic response, when overexpressed. NA Belongs to the VOPP1/ECOP family. NA PE1 7 +NX_Q96AX1 Vacuolar protein sorting-associated protein 33A 596 67611 6.5 0 Clathrin-coated vesicle;Early endosome;Lysosome membrane;Nucleoplasm;Autophagosome;Cytoplasmic vesicle;Late endosome membrane Mucopolysaccharidosis-plus syndrome Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:23351085, PubMed:24554770, PubMed:25266290, PubMed:25783203). Required for fusion of endosomes and autophagosomes with lysosomes; the function is dependent on its association with VPS16 but not VIPAS39 (PubMed:25783203). The function in autophagosome-lysosome fusion implicates STX17 but not UVRAG (PubMed:24554770). NA Belongs to the STXBP/unc-18/SEC1 family. NA PE1 12 +NX_Q96AX2 Ras-related protein Rab-37 223 24815 5.98 0 Cytoplasmic vesicle NA NA NA Belongs to the small GTPase superfamily. Rab family. Neutrophil degranulation;RAB geranylgeranylation PE1 17 +NX_Q96AX9 E3 ubiquitin-protein ligase MIB2 1013 109939 8.81 0 Cytoplasm;Endosome NA E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors. Ubiquitinated. Possibly via autoubiquitination (By similarity). NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activated NOTCH1 Transmits Signal to the Nucleus;Constitutive Signaling by NOTCH1 HD Domain Mutants;NOTCH2 Activation and Transmission of Signal to the Nucleus;NOTCH3 Activation and Transmission of Signal to the Nucleus PE1 1 +NX_Q96AY2 Crossover junction endonuclease EME1 570 63252 6.7 0 Nucleolus;Nucleus;Cytosol NA Interacts with MUS81 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks. NA Belongs to the EME1/MMS4 family. Homologous recombination;Fanconi anemia pathway;Resolution of D-loop Structures through Holliday Junction Intermediates;Fanconi Anemia Pathway PE1 17 +NX_Q96AY3 Peptidyl-prolyl cis-trans isomerase FKBP10 582 64245 5.36 0 Cytoplasmic vesicle;Endoplasmic reticulum lumen Osteogenesis imperfecta 11;Bruck syndrome 1 PPIases accelerate the folding of proteins during protein synthesis. Glycosylated and phosphorylated. NA NA PE1 17 +NX_Q96AY4 Tetratricopeptide repeat protein 28 2481 270884 6.42 0 Mitochondrion;Nucleolus;Spindle pole;Centrosome;Spindle;Midbody;Cytoskeleton NA During mitosis, may be involved in the condensation of spindle midzone microtubules, leading to the formation of midbody. NA NA NA PE1 22 +NX_Q96AZ1 EEF1A lysine methyltransferase 3 226 24911 5.29 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Centrosome;Nucleus NA Protein-lysine methyltransferase that selectively methylates EEF1A1 and EEF1A2 at 'Lys-165' in an aminoacyl-tRNA and GTP-dependent manner. EEF1A1 methylation by EEF1AKMT3 is dynamic as well as inducible by stress conditions, such as ER-stress, and plays a regulatory role on mRNA translation. NA Belongs to the methyltransferase superfamily. METTL21 family. NA PE1 12 +NX_Q96AZ6 Interferon-stimulated gene 20 kDa protein 181 20363 9.09 0 Cajal body;Cytoplasm;Nucleolus;Nucleus NA Interferon-induced antiviral exoribonuclease that acts on single-stranded RNA and also has minor activity towards single-stranded DNA. Exhibits antiviral activity against RNA viruses including hepatitis C virus (HCV), hepatitis A virus (HAV) and yellow fever virus (YFV) in an exonuclease-dependent manner. May also play additional roles in the maturation of snRNAs and rRNAs, and in ribosome biogenesis. NA Belongs to the exonuclease superfamily. Interferon alpha/beta signaling PE1 15 +NX_Q96B01 RAD51-associated protein 1 352 38457 9.18 0 Nucleoplasm;Nucleus NA May participate in a common DNA damage response pathway associated with the activation of homologous recombination and double-strand break repair. Functionally cooperates with PALB2 in promoting of D-loop formation by RAD51. Binds to single and double stranded DNA, and is capable of aggregating DNA. Also binds RNA. NA NA HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange PE1 12 +NX_Q96B02 Ubiquitin-conjugating enzyme E2 W 151 17331 7.64 0 Nucleolus;Nucleus NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:20061386, PubMed:21229326). Specifically monoubiquitinates the N-terminus of various substrates, including ATXN3, MAPT/TAU, POLR2H/RPB8 and STUB1/CHIP, by recognizing backbone atoms of disordered N-termini (PubMed:23560854, PubMed:23696636, PubMed:25436519). Involved in degradation of misfolded chaperone substrates by mediating monoubiquitination of STUB1/CHIP, leading to recruitment of ATXN3 to monoubiquitinated STUB1/CHIP, and restriction of the length of ubiquitin chain attached to STUB1/CHIP substrates by ATXN3. After UV irradiation, but not after mitomycin-C (MMC) treatment, acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway (PubMed:19111657, PubMed:21229326). In vitro catalyzes 'Lys-11'-linked polyubiquitination. UBE2W-catalyzed ubiquitination occurs also in the presence of inactive RING/U-box type E3s, i.e. Lacking the active site cysteine residues to form thioester bonds with ubiquitin, or even in the absence of E3, albeit at a slower rate (PubMed:25436519). Autoubiquitinated at Met-1. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Synthesis of active ubiquitin: roles of E1 and E2 enzymes PE1 8 +NX_Q96B18 Dapper homolog 3 629 64949 10.38 0 Cytoplasmic vesicle;Nucleoplasm NA May be involved in regulation of intracellular signaling pathways during development. Specifically thought to play a role in canonical and/or non-canonical Wnt signaling pathways through interaction with DSH (Dishevelled) family proteins. NA Belongs to the dapper family. NA PE1 19 +NX_Q96B21 Transmembrane protein 45B 275 31826 6.45 7 Membrane;Nucleoplasm NA NA NA Belongs to the TMEM45 family. NA PE1 11 +NX_Q96B23 Uncharacterized protein C18orf25 404 43395 4.77 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 18 +NX_Q96B26 Exosome complex component RRP43 276 30040 5.17 0 Cytoplasmic vesicle;Nucleus;Cytoplasm;Nucleolus Pontocerebellar hypoplasia 1C Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC8 binds to ARE-containing RNAs. NA Belongs to the RNase PH family. RNA degradation;ATF4 activates genes in response to endoplasmic reticulum stress;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA;KSRP (KHSRP) binds and destabilizes mRNA;mRNA decay by 3' to 5' exoribonuclease;Major pathway of rRNA processing in the nucleolus and cytosol PE1 13 +NX_Q96B33 Claudin-23 292 31915 7.51 4 Nucleoplasm;Tight junction;Cell membrane NA Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. NA Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE1 8 +NX_Q96B36 Proline-rich AKT1 substrate 1 256 27383 4.65 0 Cytosol NA Subunit of mTORC1, which regulates cell growth and survival in response to nutrient and hormonal signals. MTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. MTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E). MTORC1 phosphorylates and activates S6K1 at 'Thr-389', which then promotes protein synthesis by phosphorylating PDCD4 and targeting it for degradation. Within mTORC1, AKT1S1 negatively regulates mTOR activity in a manner that is dependent on its phosphorylation state and binding to 14-3-3 proteins. Inhibits RHEB-GTP-dependent mTORC1 activation. Substrate for AKT1 phosphorylation, but can also be activated by AKT1-independent mechanisms. May also play a role in nerve growth factor-mediated neuroprotection. Phosphorylated by AKT1 (PubMed:12524439). Phosphorylation at Thr-246 by DYRK3 relieves inhibitory function on mTORC1 (PubMed:23415227).;AKT1S1 is phosphorylated by MAPK3 NA HSF1-dependent transactivation;Constitutive Signaling by AKT1 E17K in Cancer;mTOR signalling;mTORC1-mediated signalling;AKT phosphorylates targets in the cytosol PE1 19 +NX_Q96B42 Transmembrane protein 18 140 16265 9.35 3 Cytoplasm;Mitochondrion;Nucleus membrane NA Transcription repressor. Sequence-specific ssDNA and dsDNA binding protein, with preference for GCT end CTG repeats. Cell migration modulator which enhances the glioma-specific migration ability of neural stem cells (NSC) and neural precursor cells (NPC). NA Belongs to the TMEM18 family. NA PE1 2 +NX_Q96B45 BLOC-1-related complex subunit 7 106 11695 6.27 0 Cytosol;Lysosome membrane;Nucleus speckle NA As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. NA Belongs to the BORCS7 family. NA PE1 10 +NX_Q96B49 Mitochondrial import receptor subunit TOM6 homolog 74 8002 4.66 0 Mitochondrion outer membrane;Mitochondrion NA NA NA Belongs to the Tom6 family. Mitochondrial protein import;Pink/Parkin Mediated Mitophagy PE1 6 +NX_Q96B54 Zinc finger protein 428 188 20481 4.14 0 Mitochondrion;Nucleolus NA NA NA NA NA PE1 19 +NX_Q96B67 Arrestin domain-containing protein 3 414 46395 6.16 0 Cytoplasm;Cell membrane;Early endosome;Endosome;Lysosome NA Adapter protein that plays a role in regulating cell-surface expression of adrenergic receptors and probably also other G protein-coupled receptors (PubMed:20559325, PubMed:21982743, PubMed:23208550). Plays a role in NEDD4-mediated ubiquitination and endocytosis af activated ADRB2 and subsequent ADRB2 degradation (PubMed:20559325, PubMed:23208550). May recruit NEDD4 to ADRB2 (PubMed:20559325). Alternatively, may function as adapter protein that does not play a major role in recruiting NEDD4 to ADRB2, but rather plays a role in a targeting ADRB2 to endosomes (PubMed:23208550). NA Belongs to the arrestin family. NA PE1 5 +NX_Q96B70 Leukocyte receptor cluster member 9 501 53167 8.01 0 Nucleolus NA NA NA NA NA PE1 19 +NX_Q96B77 Transmembrane protein 186 213 24893 9.9 2 Membrane;Cell junction;Mitochondrion NA NA NA Belongs to the TMEM186 family. NA PE1 16 +NX_Q96B86 Repulsive guidance molecule A 450 49347 7.18 0 Endoplasmic reticulum;Nucleoplasm;Cytosol;Cell membrane NA Member of the repulsive guidance molecule (RGM) family that performs several functions in the developing and adult nervous system. Regulates cephalic neural tube closure, inhibits neurite outgrowth and cortical neuron branching, and the formation of mature synapses. Binding to its receptor NEO1/neogenin induces activation of RHOA-ROCK1/Rho-kinase signaling pathway through UNC5B-ARHGEF12/LARG-PTK2/FAK1 cascade, leading to collapse of the neuronal growth cone and neurite outgrowth inhibition. Furthermore, RGMA binding to NEO1/neogenin leads to HRAS inactivation by influencing HRAS-PTK2/FAK1-AKT1 pathway. It also functions as a bone morphogenetic protein (BMP) coreceptor that may signal through SMAD1, SMAD5, and SMAD8. Autocatalytically cleaved at low pH; the two chains remain linked via two disulfide bonds. Belongs to the repulsive guidance molecule (RGM) family. Netrin-1 signaling PE1 15 +NX_Q96B96 Promethin 161 17522 5.05 3 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the TMEM159 family. NA PE1 16 +NX_Q96B97 SH3 domain-containing kinase-binding protein 1 665 73126 6.24 0 Cytoplasm;Synaptosome;Cell membrane;Focal adhesion;Cytoplasmic vesicle membrane;Cytosol;Cytoskeleton Immunodeficiency 61 Adapter protein involved in regulating diverse signal transduction pathways. Involved in the regulation of endocytosis and lysosomal degradation of ligand-induced receptor tyrosine kinases, including EGFR and MET/hepatocyte growth factor receptor, through an association with CBL and endophilins. The association with CBL, and thus the receptor internalization, may be inhibited by an interaction with PDCD6IP and/or SPRY2. Involved in regulation of ligand-dependent endocytosis of the IgE receptor. Attenuates phosphatidylinositol 3-kinase activity by interaction with its regulatory subunit (By similarity). May be involved in regulation of cell adhesion; promotes the interaction between TTK2B and PDCD6IP. May be involved in the regulation of cellular stress response via the MAPK pathways through its interaction with MAP3K4. Is involved in modulation of tumor necrosis factor mediated apoptosis. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. Has an essential role in the stimulation of B cell activation (PubMed:29636373). Monoubiquitinated by CBL and CBLB after EGF stimulation; probably on its C-terminus. NA Endocytosis;EGFR downregulation;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Reelin signalling pathway;Negative regulation of MET activity;InlB-mediated entry of Listeria monocytogenes into host cell PE1 X +NX_Q96BA8 Cyclic AMP-responsive element-binding protein 3-like protein 1 519 57005 5.03 1 Endoplasmic reticulum membrane;Nucleus Osteogenesis imperfecta 16 (Microbial infection) May play a role in limiting virus spread by inhibiting proliferation of virus-infected cells. Upon infection with diverse DNA and RNA viruses, inhibits cell-cycle progression by binding to promoters and activating transcription of genes encoding cell-cycle inhibitors, such as p21/CDKN1A (PubMed:21767813).;Transcription factor involved in unfolded protein response (UPR). Binds the DNA consensus sequence 5'-GTGXGCXGC-3' (PubMed:21767813). In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus to effect transcription of specific target genes. Plays a critical role in bone formation through the transcription of COL1A1, and possibly COL1A2, and the secretion of bone matrix proteins. Directly binds to the UPR element (UPRE)-like sequence in an osteoblast-specific COL1A1 promoter region and induces its transcription. Does not regulate COL1A1 in other tissues, such as skin (By similarity). Required to protect astrocytes from ER stress-induced cell death. In astrocytes, binds to the cAMP response element (CRE) of the BiP/HSPA5 promoter and participate in its transcriptional activation (By similarity). Required for TGFB1 to activate genes involved in the assembly of collagen extracellular matrix (PubMed:25310401). Ubiquitinated by HRD1/SYVN1; undergoes 'Lys-48'-linked ubiquitination, followed by rapid proteasomal degradation under normal conditions. Upon ER stress, SYVN1 E3 ubiquitin-protein ligase dissociates from its substrate, ubiquitination does not occur and CREB3L1 is stabilized.;N-glycosylated.;Upon ER stress, translocated to the Golgi apparatus, where it is processed by regulated intramembrane proteolysis (RIP) to release the cytosol-facing N-terminal transcription factor domain. The cleavage is performed sequentially by site-1 and site-2 proteases (S1P/MBTPS1 and S2P/MBTPS2). RIP is induced by TGFB1 and ceramide (PubMed:25310401, PubMed:27499293). Belongs to the bZIP family. ATF subfamily. Cholinergic synapse;Dopaminergic synapse;Melanogenesis;Vasopressin-regulated water reabsorption;Huntington's disease;Prostate cancer;CREB3 factors activate genes PE1 11 +NX_Q96BD0 Solute carrier organic anion transporter family member 4A1 722 77193 8.15 12 Cell junction;Cell membrane NA Mediates the Na(+)-independent transport of organic anions such as the thyroid hormones T3 (triiodo-L-thyronine), T4 (thyroxine) and rT3, and of estrone-3-sulfate and taurocholate. NA Belongs to the organo anion transporter (TC 2.A.60) family. Transport of organic anions PE1 20 +NX_Q96BD5 PHD finger protein 21A 680 74854 9.51 0 Nucleoplasm;Nucleus NA Component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it may act as a scaffold. Inhibits KDM1A-mediated demethylation of 'Lys-4' of histone H3 in vitro, suggesting a role in demethylation regulation. NA NA Factors involved in megakaryocyte development and platelet production;HDACs deacetylate histones PE1 11 +NX_Q96BD6 SPRY domain-containing SOCS box protein 1 273 30942 8.34 0 Cytoplasm;Cytosol NA Substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15601820, PubMed:21199876). Negatively regulates nitric oxide (NO) production and limits cellular toxicity in activated macrophages by mediating the ubiquitination and proteasomal degradation of NOS2 (PubMed:21199876). Acts as a bridge which links NOS2 with the ECS E3 ubiquitin ligase complex components ELOC and CUL5 (PubMed:21199876). NA Belongs to the SPSB family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 1 +NX_Q96BD8 Spindle and kinetochore-associated protein 1 255 29484 6.68 0 Spindle;Kinetochore;Cytoskeleton NA Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation (PubMed:17093495, PubMed:19289083, PubMed:23085020). Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint (PubMed:17093495). The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies (PubMed:19289083). The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner (PubMed:19289083). Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules (PubMed:23085020). In the complex, it mediates the interaction with microtubules (PubMed:19289083, PubMed:23085020). SKA1 is phosphorylated by AURKB (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the SKA1 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 18 +NX_Q96BF3 Transmembrane and immunoglobulin domain-containing protein 2 282 30675 9.13 1 Cell membrane NA Plays a role in cell-cell interaction, cell migration, and angiogenesis. Through interaction with HHLA2, costimulates T-cells in the context of TCR-mediated activation. Enhances T-cell proliferation and cytokine production via an AKT-dependent signaling cascade. N-glycosylated. NA NA PE1 19 +NX_Q96BF6 Nucleus accumbens-associated protein 2 587 62837 5.64 0 Nucleus;Mitochondrion;Nucleolus NA Functions as a transcriptional repressor through its association with the NuRD complex. Recruits the NuRD complex to the promoter of MDM2, leading to the repression of MDM2 transcription and subsequent stability of p53/TP53. NA NA NA PE1 9 +NX_Q96BH1 E3 ubiquitin-protein ligase RNF25 459 51219 6.1 0 Nucleoplasm;Cytosol NA E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NKD2 (By similarity). Stimulates transcription mediated by NF-kappa-B. Ubiquitinated. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 2 +NX_Q96BH3 Epididymal sperm-binding protein 1 223 26106 6.2 0 Secreted NA Binds to spermatozoa upon ejaculation and may play a role in sperm capacitation. Has phosphorylcholine-binding activity (By similarity). N-glycosylated. Belongs to the seminal plasma protein family. NA PE1 19 +NX_Q96BI1 Solute carrier family 22 member 18 424 44846 9.66 10 Apical cell membrane Lung cancer;Rhabdomyosarcoma, embryonal, 1 May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney. NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. Organic cation transport;Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1) PE1 11 +NX_Q96BI3 Gamma-secretase subunit APH-1A 265 28996 7.74 7 Golgi stack membrane;Endoplasmic reticulum membrane NA Non-catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12297508, PubMed:12522139, PubMed:12763021, PubMed:12679784, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). Required for normal gamma-secretase assembly (PubMed:12522139, PubMed:12471034, PubMed:12763021, PubMed:19369254). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). NA Belongs to the APH-1 family. Notch signaling pathway;Alzheimer's disease;EPH-ephrin mediated repulsion of cells;Amyloid fiber formation;Nuclear signaling by ERBB4;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activated NOTCH1 Transmits Signal to the Nucleus;Regulated proteolysis of p75NTR;NOTCH2 Activation and Transmission of Signal to the Nucleus;NRIF signals cell death from the nucleus;NOTCH3 Activation and Transmission of Signal to the Nucleus;Noncanonical activation of NOTCH3;NOTCH4 Activation and Transmission of Signal to the Nucleus PE1 1 +NX_Q96BJ3 Axin interactor, dorsalization-associated protein 306 35023 6.13 0 Cytosol;Cytoskeleton NA Acts as a ventralizing factor during embryogenesis. Inhibits axin-mediated JNK activation by binding axin and disrupting axin homodimerization. This in turn antagonizes a Wnt/beta-catenin-independent dorsalization pathway activated by AXIN/JNK-signaling (By similarity). NA Belongs to the AIDA family. NA PE1 1 +NX_Q96BJ8 Engulfment and cell motility protein 3 720 81467 5.94 0 Cytoplasm;Cell junction;Cell membrane NA Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1 (By similarity). NA NA NA PE1 16 +NX_Q96BK5 PIN2/TERF1-interacting telomerase inhibitor 1 328 37035 9.61 0 Nucleolus;Nucleoplasm;Telomere;Nucleus;Kinetochore NA Microtubule-binding protein essential for faithful chromosome segregation. Mediates TRF1 and TERT accumulation in nucleolus and enhances TRF1 binding to telomeres. Inhibits telomerase activity. May inhibit cell proliferation and act as tumor suppressor. NA Belongs to the PINX1 family. NA PE1 8 +NX_Q96BM0 Interferon alpha-inducible protein 27-like protein 1 104 9549 9.7 3 Membrane NA Plays a role in the apoptotic process and has a pro-apoptotic activity. NA Belongs to the IFI6/IFI27 family. NA PE1 14 +NX_Q96BM1 Ankyrin repeat domain-containing protein 9 317 34295 9.59 0 NA NA NA NA NA Neddylation PE1 14 +NX_Q96BM9 ADP-ribosylation factor-like protein 8A 186 21416 7.63 0 Axon;Lysosome membrane;Synapse;Spindle;Late endosome membrane NA Plays a role in lysosome motility (By similarity). In neurons, mediates the anterograde axonal long-range transport of presynaptic lysosome-related vesicles required for presynaptic biogenesis and synaptic function (By similarity). May play a role in chromosome segregation (By similarity). NA Belongs to the small GTPase superfamily. Arf family. Neutrophil degranulation PE1 1 +NX_Q96BN2 Transcriptional adapter 1 335 37382 6.92 0 Nucleoplasm;Cytosol;Focal adhesion;Nucleus NA Probably involved in transcriptional regulation. NA Belongs to the TADA1 family. HATs acetylate histones PE1 1 +NX_Q96BN6 Protein FAM149B1 582 64618 6.3 0 Nucleoplasm NA NA NA Belongs to the FAM149 family. NA PE1 10 +NX_Q96BN8 Ubiquitin thioesterase otulin 352 40263 5.35 0 Cytoplasm;Mitochondrion;Cell membrane Autoinflammation, panniculitis, and dermatosis syndrome Deubiquitinase that specifically removes linear ('Met-1'-linked) polyubiquitin chains to substrates and acts as a regulator of angiogenesis and innate immune response (PubMed:26997266, PubMed:23708998, PubMed:23746843, PubMed:23806334, PubMed:23827681, PubMed:27523608, PubMed:27559085, PubMed:24726323, PubMed:24726327, PubMed:28919039). Required during angiogenesis, craniofacial and neuronal development by regulating the canonical Wnt signaling together with the LUBAC complex (PubMed:23708998). Acts as a negative regulator of NF-kappa-B by regulating the activity of the LUBAC complex (PubMed:23746843, PubMed:23806334). OTULIN function is mainly restricted to homeostasis of the LUBAC complex: acts by removing 'Met-1'-linked autoubiquitination of the LUBAC complex, thereby preventing inactivation of the LUBAC complex (PubMed:26670046). Acts as a key negative regulator of inflammation by restricting spontaneous inflammation and maintaining immune homeostasis (PubMed:27523608). In myeloid cell, required to prevent unwarranted secretion of cytokines leading to inflammation and autoimmunity by restricting linear polyubiquitin formation (PubMed:27523608). Plays a role in innate immune response by restricting linear polyubiquitin formation on LUBAC complex in response to NOD2 stimulation, probably to limit NOD2-dependent proinflammatory signaling (PubMed:23806334). Acetylated.;Ubiquitinated.;Phosphorylated (PubMed:23746843, PubMed:24726323, PubMed:24726327). Phosphorylation at Tyr-56 prevents interaction with RNF31; dephosphorylation promotes interaction with RNF31 and the LUBAC complex (PubMed:24726323, PubMed:24726327). Belongs to the peptidase C65 family. Otulin subfamily. Regulation of TNFR1 signaling;Synthesis of active ubiquitin: roles of E1 and E2 enzymes PE1 5 +NX_Q96BP2 Coiled-coil-helix-coiled-coil-helix domain-containing protein 1 118 13475 10.24 0 Nucleoplasm;Nucleus;Mitochondrion;Nucleolus NA NA NA Belongs to the mitochondrion-specific ribosomal protein mS37 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 10 +NX_Q96BP3 Peptidylprolyl isomerase domain and WD repeat-containing protein 1 646 73575 6.7 0 Nucleus NA PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). May be involved in pre-mRNA splicing (PubMed:11991638). NA Belongs to the cyclophilin-type PPIase family. PPIL1 subfamily. mRNA Splicing - Major Pathway PE1 5 +NX_Q96BQ1 Protein FAM3D 224 24963 9.42 0 Secreted NA NA NA Belongs to the FAM3 family. NA PE1 3 +NX_Q96BQ3 Tripartite motif-containing protein 43 446 52265 8.24 0 NA NA NA NA Belongs to the TRIM/RBCC family. NA PE1 2 +NX_Q96BQ5 Coiled-coil domain-containing protein 127 260 30834 9.26 0 Nucleoplasm;Nucleolus NA NA NA NA NA PE1 5 +NX_Q96BR1 Serine/threonine-protein kinase Sgk3 496 57108 6.45 0 Nucleoplasm;Early endosome;Recycling endosome;Cytoplasmic vesicle NA Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cell growth, proliferation, survival and migration. Up-regulates Na(+) channels: SCNN1A/ENAC and SCN5A, K(+) channels: KCNA3/KV1.3, KCNE1, KCNQ1 and KCNH2/HERG, epithelial Ca(2+) channels: TRPV5 and TRPV6, chloride channel: BSND, creatine transporter: SLC6A8, Na(+)/dicarboxylate cotransporter: SLC13A2/NADC1, Na(+)-dependent phosphate cotransporter: SLC34A2/NAPI-2B, amino acid transporters: SLC1A5/ASCT2 and SLC6A19, glutamate transporters: SLC1A3/EAAT1, SLC1A6/EAAT4 and SLC1A7/EAAT5, glutamate receptors: GRIA1/GLUR1 and GRIK2/GLUR6, Na(+)/H(+) exchanger: SLC9A3/NHE3, and the Na(+)/K(+) ATPase. Plays a role in the regulation of renal tubular phosphate transport and bone density. Phosphorylates NEDD4L and GSK3B. Positively regulates ER transcription activity through phosphorylation of FLII. Negatively regulates the function of ITCH/AIP4 via its phosphorylation and thereby prevents CXCR4 from being efficiently sorted to lysosomes. Activated by phosphorylation on Ser-486 by an unknown kinase (may be mTORC2 but not confirmed), transforming it into a substrate for PDPK1 which then phosphorylates it on Thr-320. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. Stimuli-sensing channels PE1 8 +NX_Q96BR5 Cytochrome c oxidase assembly factor 7 231 25709 5.66 0 Nucleoplasm;Mitochondrion intermembrane space;Mitochondrion Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 Required for assembly of mitochondrial respiratory chain complex I and complex IV. NA Belongs to the hcp beta-lactamase family. NA PE1 1 +NX_Q96BR6 Zinc finger protein 669 464 52597 9.06 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 1 +NX_Q96BR9 Zinc finger and BTB domain-containing protein 8A 441 50141 6.81 0 Nucleus speckle;Focal adhesion;Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 1 +NX_Q96BS2 Calcineurin B homologous protein 3 214 24750 4.84 0 Cytoplasm;Cell membrane;Membrane;Nucleoplasm;Lamellipodium;Ruffle membrane;Cytosol;Nucleus NA Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Promotes the maturation, transport, cell surface stability and exchange activity of SLC9A1/NHE1 at the plasma membrane. Promotes the induction of hematopoietic stem cell differentiation toward megakaryocytic lineage. Essential for the coupling of ERK cascade activation with the expression of ETS family genes in megakaryocytic differentiation. Also involved in granulocytic differentiation in a ERK-dependent manner. Inhibits the phosphatase activity of calcineurin. NA Belongs to the calcineurin regulatory subunit family. CHP subfamily. NA PE1 12 +NX_Q96BT1 Putative uncharacterized protein C3orf49 292 33461 10.19 0 NA NA NA NA NA NA PE2 3 +NX_Q96BT3 Centromere protein T 561 60423 6.14 0 Kinetochore;Centromere;Nucleus NA Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Part of a nucleosome-associated complex that binds specifically to histone H3-containing nucleosomes at the centromere, as opposed to nucleosomes containing CENPA. Component of the heterotetrameric CENP-T-W-S-X complex that binds and supercoils DNA, and plays an important role in kinetochore assembly. CENPT has a fundamental role in kinetochore assembly and function. It is one of the inner kinetochore proteins, with most further proteins binding downstream. Required for normal chromosome organization and normal progress through mitosis. Dynamically phosphorylated at Ser-47 and probably also other sites during the cell cycle. Phosphorylated at Ser-47 during G2 phase, metaphase and anaphase, but not during telophase or G1 phase. Belongs to the CENP-T/CNN1 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Deposition of new CENPA-containing nucleosomes at the centromere;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 16 +NX_Q96BT7 Alkylated DNA repair protein alkB homolog 8 664 75208 8.21 0 Cytoplasm;Nucleoplasm;Nucleus NA Catalyzes the methylation of 5-carboxymethyl uridine to 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA via its methyltransferase domain (PubMed:20123966, PubMed:20308323). Catalyzes the last step in the formation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in target tRNA (PubMed:20123966, PubMed:20308323). Has a preference for tRNA(Arg) and tRNA(Glu), and does not bind tRNA(Lys)(PubMed:20308323). Binds tRNA and catalyzes the iron and alpha-ketoglutarate dependent hydroxylation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA via its dioxygenase domain, giving rise to 5-(S)-methoxycarbonylhydroxymethyluridine; has a preference for tRNA(Gly) (PubMed:21285950). Required for normal survival after DNA damage (PubMed:20308323). May inhibit apoptosis and promote cell survival and angiogenesis (PubMed:19293182). NA Belongs to the alkB family. tRNA modification in the nucleus and cytosol PE1 11 +NX_Q96BU1 S100P-binding protein 408 45582 5.02 0 Nucleus speckle;Nucleus NA NA NA NA NA PE1 1 +NX_Q96BV0 Zinc finger protein 775 537 59752 10.23 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_Q96BW1 Uracil phosphoribosyltransferase homolog 309 33786 5.71 0 Nucleoplasm;Cytoplasm;Nucleus;Cytoplasmic vesicle NA NA NA Belongs to the UPRTase family. Pyrimidine metabolism;Metabolic pathways PE1 X +NX_Q96BW5 Phosphotriesterase-related protein 349 39018 6.07 0 Nucleoplasm;Cytosol NA NA NA Belongs to the metallo-dependent hydrolases superfamily. Phosphotriesterase family. NA PE1 10 +NX_Q96BW9 Phosphatidate cytidylyltransferase, mitochondrial 452 51067 8.23 0 Cytosol;Mitochondrion inner membrane NA Catalyzes the formation of CDP-diacylglycerol (CDP-DAG) from phosphatidic acid (PA) in the mitochondrial inner membrane. Required for the biosynthesis of the dimeric phospholipid cardiolipin, which stabilizes supercomplexes of the mitochondrial respiratory chain in the mitochondrial inner membrane. NA Belongs to the TAM41 family. Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 3/3. PE1 3 +NX_Q96BX8 MOB kinase activator 3A 217 25464 8.81 0 NA NA May regulate the activity of kinases. NA Belongs to the MOB1/phocein family. NA PE1 19 +NX_Q96BY2 Modulator of apoptosis 1 351 39513 5.21 0 Cytoplasm;Nucleoplasm;Cell junction NA Required for death receptor-dependent apoptosis. When associated with RASSF1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation. Ubiquitinated and degraded during mitotic exit by APC/C-Cdh1, this modification is inhibited by TRIM39. Belongs to the PNMA family. NA PE1 14 +NX_Q96BY6 Dedicator of cytokinesis protein 10 2186 249531 6.72 0 Cytoplasm;Dendritic spine;Nucleoplasm;Cytosol;Nucleus NA Guanine nucleotide-exchange factor (GEF) that activates CDC42 and RAC1 by exchanging bound GDP for free GTP. Essential for dendritic spine morphogenesis in Purkinje cells and in hippocampal neurons, via a CDC42-mediated pathway. Sustains B-cell lymphopoiesis in secondary lymphoid tissues and regulates FCER2/CD23 expression. NA Belongs to the DOCK family. Factors involved in megakaryocyte development and platelet production PE1 2 +NX_Q96BY7 Autophagy-related protein 2 homolog B 2078 232763 5.49 0 Nucleoplasm;Preautophagosomal structure membrane;Lipid droplet NA Required for both autophagosome formation and regulation of lipid droplet morphology and dispersion. NA Belongs to the ATG2 family. NA PE1 14 +NX_Q96BY9 Store-operated calcium entry-associated regulatory factor 339 36975 7.5 1 Endoplasmic reticulum;Cytoplasm;Endoplasmic reticulum membrane NA Negative regulator of store-operated Ca(2+) entry (SOCE) involved in protecting cells from Ca(2+) overfilling. In response to cytosolic Ca(2+) elevation after endoplasmic reticulum Ca(2+) refilling, promotes a slow inactivation of STIM (STIM1 or STIM2)-dependent SOCE activity: possibly act by facilitating the deoligomerization of STIM to efficiently turn off ORAI when the endoplasmic reticulum lumen is filled with the appropriate Ca(2+) levels, and thus preventing the overload of the cell with excessive Ca(2+) ions. NA Belongs to the SARAF family. NA PE1 8 +NX_Q96BZ4 Phospholipase D4 506 55626 8.61 1 Membrane NA NA NA Belongs to the phospholipase D family. Role of phospholipids in phagocytosis;Synthesis of IP3 and IP4 in the cytosol;Synthesis of PG PE1 14 +NX_Q96BZ8 Leukocyte receptor cluster member 1 264 30529 9.68 0 Nucleoplasm;Cell membrane NA NA NA NA NA PE1 19 +NX_Q96BZ9 TBC1 domain family member 20 403 45855 6.37 2 Membrane Warburg micro syndrome 4 GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude. NA NA COPII-mediated vesicle transport;TBC/RABGAPs PE1 20 +NX_Q96C00 Zinc finger and BTB domain-containing protein 9 473 50602 6.29 0 Nucleoplasm;Nucleus;Nucleus membrane NA May be involved in transcriptional regulation. NA NA NA PE1 6 +NX_Q96C01 Protein FAM136A 138 15641 7.56 0 Mitochondrion NA NA NA Belongs to the FAM136 family. NA PE1 2 +NX_Q96C03 Mitochondrial dynamics protein MID49 454 49269 5.01 1 Mitochondrion outer membrane NA Mitochondrial outer membrane protein which regulates mitochondrial organization (PubMed:29361167). It is required for mitochondrial fission and promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity. NA Belongs to the MID49/MID51 family. NA PE1 17 +NX_Q96C10 Probable ATP-dependent RNA helicase DHX58 678 76613 6.98 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Cytosol NA Acts as a regulator of DDX58/RIG-I and IFIH1/MDA5 mediated antiviral signaling. Cannot initiate antiviral signaling as it lacks the CARD domain required for activating MAVS/IPS1-dependent signaling events. Can have both negative and positive regulatory functions related to DDX58/RIG-I and IFIH1/MDA5 signaling and this role in regulating signaling may be complex and could probably depend on characteristics of the infecting virus or target cells, or both. Its inhibitory action on DDX58/RIG-I signaling may involve the following mechanisms: competition with DDX58/RIG-I for binding to the viral RNA, binding to DDX58/RIG-I and inhibiting its dimerization and interaction with MAVS/IPS1, competing with IKBKE in its binding to MAVS/IPS1 thereby inhibiting activation of interferon regulatory factor 3 (IRF3). Its positive regulatory role may involve unwinding or stripping nucleoproteins of viral RNA thereby facilitating their recognition by DDX58/RIG-I and IFIH1/MDA5. Involved in the innate immune response to various RNA viruses and some DNA viruses such as poxviruses, and also to the bacterial pathogen Listeria monocytogenes. Can bind both ssRNA and dsRNA, with a higher affinity for dsRNA. Shows a preference to 5'-triphosphorylated RNA, although it can recognize RNA lacking a 5'-triphosphate. NA Belongs to the helicase family. RLR subfamily. RIG-I-like receptor signaling pathway;DDX58/IFIH1-mediated induction of interferon-alpha/beta PE1 17 +NX_Q96C11 FGGY carbohydrate kinase domain-containing protein 551 59993 5.9 0 Cytoplasm;Nucleoplasm;Nucleus Amyotrophic lateral sclerosis NA NA Belongs to the FGGY kinase family. NA PE1 1 +NX_Q96C12 Armadillo repeat-containing protein 5 935 97682 6.75 0 Nucleoplasm;Cytosol;Cytoplasm;Focal adhesion ACTH-independent macronodular adrenal hyperplasia 2 Involved in fetal development, T-cell function and adrenal gland growth homeostasis (By similarity). Negatively regulates adrenal cells survival. Plays a role in steroidogenesis, modulates steroidogenic enzymes expression and cortisol production (PubMed:24283224, PubMed:28676429). NA NA NA PE1 16 +NX_Q96C19 EF-hand domain-containing protein D2 240 26697 5.15 0 Cytosol;Membrane raft NA May regulate B-cell receptor (BCR)-induced immature and primary B-cell apoptosis. Plays a role as negative regulator of the canonical NF-kappa-B-activating branch. Controls spontaneous apoptosis through the regulation of BCL2L1 abundance. NA NA NA PE1 1 +NX_Q96C23 Aldose 1-epimerase 342 37766 6.18 0 Cytoplasm;Nucleoplasm NA Mutarotase converts alpha-aldose to the beta-anomer. It is active on D-glucose, L-arabinose, D-xylose, D-galactose, maltose and lactose (By similarity). NA Belongs to the aldose epimerase family. Carbohydrate metabolism; hexose metabolism.;Glycolysis / Gluconeogenesis PE1 2 +NX_Q96C24 Synaptotagmin-like protein 4 671 76024 9.1 0 Membrane;Cytoplasmic vesicle;Secretory vesicle membrane;Cell membrane NA Modulates exocytosis of dense-core granules and secretion of hormones in the pancreas and the pituitary. Interacts with vesicles containing negatively charged phospholipids in a Ca(2+)-independent manner (By similarity). NA NA Platelet degranulation PE1 X +NX_Q96C28 Zinc finger protein 707 371 43088 9.73 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 8 +NX_Q96C34 RUN domain-containing protein 1 613 67643 5.84 0 Cytosol;Nucleus speckle NA May play a role as p53/TP53 inhibitor and thus may have oncogenic activity. NA NA NA PE1 17 +NX_Q96C36 Pyrroline-5-carboxylate reductase 2 320 33637 7.66 0 Cytoplasm;Mitochondrion Leukodystrophy, hypomyelinating, 10 Housekeeping enzyme that catalyzes the last step in proline biosynthesis. In some cell types, such as erythrocytes, its primary function may be the generation of NADP(+). Can utilize both NAD and NADP. Has higher affinity for NADP, but higher catalytic efficiency with NADH (PubMed:2722838, PubMed:6894153). Involved in cellular response to oxidative stress (PubMed:25865492). NA Belongs to the pyrroline-5-carboxylate reductase family. Amino-acid biosynthesis; L-proline biosynthesis; L-proline from L-glutamate 5-semialdehyde: step 1/1.;Arginine and proline metabolism;Metabolic pathways;Glutamate and glutamine metabolism PE1 1 +NX_Q96C45 Serine/threonine-protein kinase ULK4 1275 142442 5.9 0 Nucleoplasm;Cytosol;Mitochondrion NA May be involved in the remodeling of cytoskeletal components, such as alpha-tubulin, and in this way regulates neurite branching and elongation, as well as cell motility. NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. APG1/unc-51/ULK1 subfamily. NA PE1 3 +NX_Q96C55 Zinc finger protein 524 264 28709 9.07 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q96C57 Protein CUSTOS 262 28171 9.44 0 Golgi apparatus;Nucleolus;Nucleus envelope;Nucleus NA Plays a role in the regulation of Wnt signaling pathway during early development. NA Belongs to the CUSTOS family. NA PE1 12 +NX_Q96C74 Ropporin-1-like protein 230 26107 7.62 0 Cilium;Flagellum NA Important for male fertility. With ROPN1, involved in fibrous sheath integrity and sperm motility, plays a role in PKA-dependent signaling processes required for spermatozoa capacitation. Sumoylated, sumoylation decreases upon spermatozoa capacitation conditions. Belongs to the ropporin family. NA PE1 5 +NX_Q96C86 m7GpppX diphosphatase 337 38609 5.93 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Al-Raqad syndrome Decapping scavenger enzyme that catalyzes the cleavage of a residual cap structure following the degradation of mRNAs by the 3'->5' exosome-mediated mRNA decay pathway. Hydrolyzes cap analog structures like 7-methylguanosine nucleoside triphosphate (m7GpppG) with up to 10 nucleotide substrates (small capped oligoribonucleotides) and specifically releases 5'-phosphorylated RNA fragments and 7-methylguanosine monophosphate (m7GMP). Cleaves cap analog structures like tri-methyl guanosine nucleoside triphosphate (m3(2,2,7)GpppG) with very poor efficiency. Does not hydrolyze unmethylated cap analog (GpppG) and shows no decapping activity on intact m7GpppG-capped mRNA molecules longer than 25 nucleotides. Does not hydrolyze 7-methylguanosine diphosphate (m7GDP) to m7GMP (PubMed:22985415). May also play a role in the 5'->3 mRNA decay pathway; m7GDP, the downstream product released by the 5'->3' mRNA mediated decapping activity, may be also converted by DCPS to m7GMP (PubMed:14523240). Binds to m7GpppG and strongly to m7GDP. Plays a role in first intron splicing of pre-mRNAs. Inhibits activation-induced cell death. NA Belongs to the HIT family. RNA degradation;mRNA decay by 3' to 5' exoribonuclease PE1 11 +NX_Q96C90 Protein phosphatase 1 regulatory subunit 14B 147 15911 4.75 0 Cytoplasm NA Inhibitor of PPP1CA. Has over 50-fold higher inhibitory activity when phosphorylated (By similarity). Phosphorylated primarily on Thr-57 by PKC (in vitro). An unknown Ser is also phosphorylated by PKC (in vitro) (By similarity). Belongs to the PP1 inhibitor family. NA PE1 11 +NX_Q96C92 Endosome-associated-trafficking regulator 1 435 47961 5.03 0 Cytoplasm;Recycling endosome;Early endosome;Cilium basal body;Endosome;Centrosome;Midbody NA Endosome-associated protein that plays a role in membrane receptor sorting, cytokinesis and ciliogenesis (PubMed:23108400, PubMed:25278552, PubMed:27767179). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552). Involved in the regulation of cytokinesis; the function may involve PTPN13 and GIT1 (PubMed:23108400). Plays a role in the formation of cilia (PubMed:27767179). Involved in cargo protein localization, such as PKD2, at primary cilia (PubMed:27767179). Involved in the presentation of the tumor necrosis factor (TNF) receptor TNFRSF1A on the cell surface, and hence in the modulation of the TNF-induced apoptosis (By similarity). Phosphorylated. Belongs to the ENTR1 family. NA PE1 9 +NX_Q96CA5 Baculoviral IAP repeat-containing protein 7 298 32798 5.43 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Protects against natural killer (NK) cell killing whereas isoform 1 augments killing.;Blocks etoposide-induced apoptosis.;Blocks staurosporine-induced apoptosis.;Apoptotic regulator capable of exerting proapoptotic and anti-apoptotic activities and plays crucial roles in apoptosis, cell proliferation, and cell cycle control. Its anti-apoptotic activity is mediated through the inhibition of CASP3, CASP7 and CASP9, as well as by its E3 ubiquitin-protein ligase activity. As it is a weak caspase inhibitor, its anti-apoptotic activity is thought to be due to its ability to ubiquitinate DIABLO/SMAC targeting it for degradation thereby promoting cell survival. May contribute to caspase inhibition, by blocking the ability of DIABLO/SMAC to disrupt XIAP/BIRC4-caspase interactions. Protects against apoptosis induced by TNF or by chemical agents such as adriamycin, etoposide or staurosporine. Suppression of apoptosis is mediated by activation of MAPK8/JNK1, and possibly also of MAPK9/JNK2. This activation depends on TAB1 and NR2C2/TAK1. In vitro, inhibits CASP3 and proteolytic activation of pro-CASP9. Autoubiquitinated and undergoes proteasome-mediated degradation.;The truncated protein (tLivin) not only loses its anti-apoptotic effect but also acquires a pro-apoptotic effect. Belongs to the IAP family. NA PE1 20 +NX_Q96CB5 Putative uncharacterized protein C8orf44 159 18380 10.91 0 Nucleoplasm;Nucleus NA NA NA NA NA PE2 8 +NX_Q96CB8 Integrator complex subunit 12 462 48808 9.72 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA Component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (PubMed:16239144). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267). NA Belongs to the Integrator subunit 12 family. RNA polymerase II transcribes snRNA genes PE1 4 +NX_Q96CB9 5-methylcytosine rRNA methyltransferase NSUN4 384 43089 8.47 0 Mitochondrion NA Involved in mitochondrial ribosome assembly. 5-methylcytosine rRNA methyltransferase that probably is involved in mitochondrial ribosome small subunit (SSU) maturation by methylation of mitochondrial 12S rRNA; the function is independent of MTERFD2/MTERF4 and assembled mitochondrial ribosome large subunit (LSU). Targeted to LSU by MTERFD2/MTERF4 and probably is involved in a final step in ribosome biogenesis to ensure that SSU and LSU are assembled. In vitro can methylate 16S rRNA of the LSU; the methylation is enhanced by MTERFD/MTERF4. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. rRNA modification in the mitochondrion PE1 1 +NX_Q96CC6 Inactive rhomboid protein 1 855 97401 8.8 7 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus membrane NA Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own. N-glycosylated. Belongs to the peptidase S54 family. NA PE1 16 +NX_Q96CD0 F-box/LRR-repeat protein 8 374 40516 6.96 0 Golgi apparatus NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 16 +NX_Q96CD2 Phosphopantothenoylcysteine decarboxylase 204 22395 5.72 0 Cytosol NA Necessary for the biosynthesis of coenzyme A. Catalyzes the decarboxylation of 4-phosphopantothenoylcysteine to form 4'-phosphopantotheine. NA Belongs to the HFCD (homooligomeric flavin containing Cys decarboxylase) superfamily. Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 3/5.;Pantothenate and CoA biosynthesis;Metabolic pathways;Coenzyme A biosynthesis PE1 15 +NX_Q96CE8 Transmembrane 4 L6 family member 18 201 22277 7.4 4 Membrane;Cytoplasmic vesicle;Cytosol NA NA NA Belongs to the L6 tetraspanin family. NA PE2 3 +NX_Q96CF2 Charged multivesicular body protein 4c 233 26411 5.83 0 Cytosol;Late endosome membrane;Midbody ring NA Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). Key component of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage: upon phosphorylation by AURKB, together with ZFYVE19/ANCHR, retains abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis. Deactivation of AURKB results in dephosphorylation of CHMP4C followed by its dissociation from ANCHR and VPS4 and subsequent abscission (PubMed:22422861, PubMed:24814515). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in HIV-1 p6- and p9-dependent virus release. CHMP4A/B/C are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). Phosphorylated at Ser-210 by AURKB during cytokinesis: together with ZFYVE19/ANCHR, phosphorylated CHMP4C retains abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis. Belongs to the SNF7 family. Endocytosis;Macroautophagy;Budding and maturation of HIV virion;Endosomal Sorting Complex Required For Transport (ESCRT);Microautophagy PE1 8 +NX_Q96CG3 TRAF-interacting protein with FHA domain-containing protein A 184 21445 5.04 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleolus NA Adapter molecule that plays a key role in the activation of proinflammatory NF-kappa-B signaling following detection of bacterial pathogen-associated molecular pattern metabolites (PAMPs) (PubMed:12566447, PubMed:15492226, PubMed:26068852, PubMed:28877472, PubMed:28222186, PubMed:30111836). Promotes activation of an innate immune response by inducing the oligomerization and polyubiquitination of TRAF6, which leads to the activation of TAK1 and IKK through a proteasome-independent mechanism (PubMed:15492226, PubMed:26068852). TIFA-dependent innate immune response is triggered by ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose), a potent PAMP present in all Gram-negative and some Gram-positive bacteria: ADP-Heptose is recognized by ALPK1, which phosphorylates TIFA at Thr-9, leading to TIFA homooligomerization and subsequent activation of proinflammatory NF-kappa-B signaling (PubMed:30111836). Phosphorylated at Thr-9 following detection of ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose) by ALPK1 (PubMed:30111836). Phosphorylation at Thr-9 by ALPK1 leads to the formation of an intermolecular binding between the FHA domain and phosphorylated Thr-9, promoting TIFA oligomerization and TIFA-mediated NF-kappa-B activation (PubMed:22566686, PubMed:30111836, PubMed:26389808). Belongs to the TIFA family. NA PE1 4 +NX_Q96CG8 Collagen triple helix repeat-containing protein 1 243 26224 8.31 0 Nucleoplasm;Extracellular matrix Barrett esophagus May act as a negative regulator of collagen matrix deposition. N-glycosylated. NA NA PE1 8 +NX_Q96CH1 Probable G-protein coupled receptor 146 333 36580 8.55 7 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 7 +NX_Q96CJ1 ELL-associated factor 2 260 28792 5.04 0 Nucleus speckle NA Acts as a transcriptional transactivator of TCEA1 elongation activity (By similarity). Acts as a transcriptional transactivator of ELL and ELL2 elongation activities. Potent inducer of apoptosis in prostatic and non-prostatic cell lines. Inhibits prostate tumor growth in vivo. NA Belongs to the EAF family. Formation of RNA Pol II elongation complex;RNA Polymerase II Pre-transcription Events;RNA Polymerase II Transcription Elongation PE1 3 +NX_Q96CK0 Zinc finger protein 653 615 67235 6.53 0 Nucleoplasm;Nucleus NA Transcriptional repressor. May repress NR5A1, PPARG, NR1H3, NR4A2, ESR1 and NR3C1 transcriptional activity. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q96CM3 Mitochondrial RNA pseudouridine synthase RPUSD4 377 42205 9.9 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion NA Catalyzes uridine to pseudouridine isomerization (pseudouridylation) of different mitochondrial RNA substrates. Acts on position 1397 in 16S mitochondrial ribosomal RNA (16S mt-rRNA). This modification is required for the assembly of 16S mt-rRNA into a functional mitochondrial ribosome (PubMed:27974379). Acts on position 39 in mitochondrial tRNA(Phe) (PubMed:28082677). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mt-rRNA, controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation (PubMed:27667664). NA Belongs to the pseudouridine synthase RluA family. NA PE1 11 +NX_Q96CM4 Nucleoredoxin-like protein 1 212 23943 4.72 0 Photoreceptor outer segment NA May play a role in cone cell viability, slowing down cone degeneration, does not seem to play a role in degenerating rods. NA Belongs to the nucleoredoxin family. NA PE1 19 +NX_Q96CM8 Medium-chain acyl-CoA ligase ACSF2, mitochondrial 615 68125 7.5 0 Nucleoplasm;Cytosol;Mitochondrion;Cytoskeleton NA Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA (PubMed:17762044). Has some preference toward medium-chain substrates (PubMed:17762044). Plays a role in adipocyte differentiation (PubMed:16380219). NA Belongs to the ATP-dependent AMP-binding enzyme family. Mitochondrial Fatty Acid Beta-Oxidation PE1 17 +NX_Q96CN4 EVI5-like protein 794 91376 5.25 0 Nucleus NA Functions as a GTPase-activating protein (GAP) with a broad specificity. NA NA NA PE1 19 +NX_Q96CN5 Leucine-rich repeat-containing protein 45 670 75951 5.95 0 Nucleoplasm;Cytosol;Centrosome;Cell membrane NA Component of the proteinaceous fiber-like linker between two centrioles, required for centrosome cohesion. Phosphorylated by NEK2 during misosis, phosphorylation reduces centrosomal localization which subsequently leads to centrosome separation. NA NA PE1 17 +NX_Q96CN7 Isochorismatase domain-containing protein 1 298 32237 6.96 0 Endoplasmic reticulum;Cytoplasm;Cytoplasmic vesicle NA NA NA Belongs to the isochorismatase family. NA PE1 5 +NX_Q96CN9 GRIP and coiled-coil domain-containing protein 1 775 87811 5.35 0 Golgi apparatus;Cytoplasm;Cell membrane;Golgi apparatus membrane;Cytosol NA Probably involved in maintaining Golgi structure. NA NA Retrograde transport at the Trans-Golgi-Network PE1 7 +NX_Q96CP2 FLYWCH family member 2 140 14564 8.6 0 Nucleoplasm NA NA NA NA NA PE1 16 +NX_Q96CP6 Protein Aster-A 724 80680 6.29 1 Cytosol;Autophagosome;Endoplasmic reticulum membrane;Cell membrane NA Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS) which is mediated by the GRAM domain (By similarity). At the EPCS, the sterol-binding VASt/ASTER domain binds to the cholesterol in the PM and facilitates its transfer from the PM to ER (By similarity). May play a role in tumor progression (By similarity). Plays a role in autophagy regulation and is required for biogenesis of the autophagosome (PubMed:31222192). This function in autophagy requires its cholesterol-transfer activity (PubMed:31222192). NA NA NA PE1 19 +NX_Q96CP7 TLC domain-containing protein 1 247 28548 9.54 4 Cytoplasm;Cell membrane NA Regulates the composition and fluidity of the plasma membrane (PubMed:30509349). Inhibits the incorporation of membrane-fluidizing phospholipids containing omega-3 long-chain polyunsaturated fatty acids (LCPUFA) and thereby promotes membrane rigidity (PubMed:30509349). Does not appear to have any effect on LCPUFA synthesis (PubMed:30509349). NA NA NA PE1 17 +NX_Q96CQ1 Solute carrier family 25 member 36 311 34283 8.8 6 Nucleoplasm;Cytosol;Mitochondrion inner membrane;Mitochondrion NA Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria. Transports preferentially cytosine and uracil (deoxy)nucleoside mono-, di-, and triphosphates by uniport and antiport mechanism. Also transports guanine but not adenine (deoxy)nucleotides. Is inhibited strongly by pyridoxal 5'-phosphate, 4,7-diphenyl-1,10-phenanthroline, tannic acid, and mercurials (mercury dichloride, Mersalyl acid, p-hydroxymercuribenzoate). Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and mitochondrial respiration. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 3 +NX_Q96CS2 HAUS augmin-like complex subunit 1 278 31863 5.41 0 Cytoplasm;Spindle pole;Centrosome;Cytosol;Spindle NA Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. NA Belongs to the HAUS1 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 18 +NX_Q96CS3 FAS-associated factor 2 445 52623 5.46 0 Endoplasmic reticulum;Cytoplasm;Lipid droplet NA Plays an important role in endoplasmic reticulum-associated degradation (ERAD) that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:18711132, PubMed:24215460). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). Involved in inhibition of lipid droplet degradation by binding to phospholipase PNPL2 and inhibiting its activity by promoting dissociation of PNPL2 from its endogenous activator, ABHD5 which inhibits the rate of triacylglycerol hydrolysis (PubMed:23297223). NA NA Neutrophil degranulation PE1 5 +NX_Q96CS4 Zinc finger protein 689 500 56907 9.89 0 Nucleoplasm;Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_Q96CS7 Pleckstrin homology domain-containing family B member 2 222 24736 5.15 0 Recycling endosome membrane NA Involved in retrograde transport of recycling endosomes. NA NA NA PE1 2 +NX_Q96CT2 Kelch-like protein 29 875 94228 6.73 0 Cytosol;Mitochondrion NA NA NA NA NA PE1 2 +NX_Q96CT7 Coiled-coil domain-containing protein 124 223 25835 9.54 0 Cytosol;Centrosome;Midbody;Cell membrane NA Required for proper progression of late cytokinetic stages. NA Belongs to the CCDC124 family. NA PE1 19 +NX_Q96CU9 FAD-dependent oxidoreductase domain-containing protein 1 486 53812 7.66 1 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex I deficiency, nuclear type 19 Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:20858599, PubMed:25678554). Involved in mid-late stages of complex I assembly (PubMed:25678554). NA NA NA PE1 11 +NX_Q96CV9 Optineurin 577 65922 5.12 0 trans-Golgi network;Golgi apparatus;Recycling endosome;Autophagosome;Cytoplasmic vesicle;Cytosol;Perinuclear region Amyotrophic lateral sclerosis 12;Glaucoma 1, open angle, E;Glaucoma, normal pressure (Microbial infection) May constitute a cellular target for adenovirus E3 14.7 and Bluetongue virus protein NS3 to inhibit innate immune response.;Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8 (PubMed:27534431). Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation (PubMed:27534431). Plays a role in the activation of innate immune response during viral infection. Mechanistically, recruits TBK1 at the Golgi apparatus, promoting its trans-phosphorylation after RLR or TLR3 stimulation (PubMed:27538435). In turn, activated TBK1 phosphorylates its downstream partner IRF3 to produce IFN-beta. Plays a neuroprotective role in the eye and optic nerve. May act by regulating membrane trafficking and cellular morphogenesis via a complex that contains Rab8 and hungtingtin (HD). Mediates the interaction of Rab8 with the probable GTPase-activating protein TBC1D17 during Rab8-mediated endocytic trafficking, such as of transferrin receptor (TFRC/TfR); regulates Rab8 recruitment to tubules emanating from the endocytic recycling compartment. Autophagy receptor that interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family; targets ubiquitin-coated bacteria (xenophagy), such as cytoplasmic Salmonella enterica, and appears to function in the same pathway as SQSTM1 and CALCOCO2/NDP52. Phosphorylated by TBK1, leading to restrict bacterial proliferation in case of infection. Phosphorylation is induced by phorbol esters and decreases its half-time. NA Regulation of PLK1 Activity at G2/M Transition;TBC/RABGAPs PE1 10 +NX_Q96CW1 AP-2 complex subunit mu 435 49655 9.57 0 Coated pit;Cell membrane NA Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). The AP-2 mu subunit binds to transmembrane cargo proteins; it recognizes the Y-X-X-Phi motifs. The surface region interacting with to the Y-X-X-Phi motif is inaccessible in cytosolic AP-2, but becomes accessible through a conformational change following phosphorylation of AP-2 mu subunit at 'Tyr-156' in membrane-associated AP-2. The membrane-specific phosphorylation event appears to involve assembled clathrin which activates the AP-2 mu kinase AAK1 (By similarity). Plays a role in endocytosis of frizzled family members upon Wnt signaling (By similarity). NA Belongs to the adaptor complexes medium subunit family. Endocytosis;Synaptic vesicle cycle;Endocrine and other factor-regulated calcium reabsorption;Huntington's disease;MHC class II antigen presentation;EPH-ephrin mediated repulsion of cells;Retrograde neurotrophin signalling;Recycling pathway of L1;Nef Mediated CD8 Down-regulation;Nef mediated downregulation of CD28 cell surface expression;Gap junction degradation;WNT5A-dependent internalization of FZD4;Nef Mediated CD4 Down-regulation;Formation of annular gap junctions;Trafficking of GluR2-containing AMPA receptors;WNT5A-dependent internalization of FZD2, FZD5 and ROR2;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;VLDLR internalisation and degradation;LDL clearance PE1 3 +NX_Q96CW5 Gamma-tubulin complex component 3 907 103571 8.35 0 Centrosome NA Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome. NA Belongs to the TUBGCP family. Recruitment of mitotic centrosome proteins and complexes;Recruitment of NuMA to mitotic centrosomes PE1 13 +NX_Q96CW6 Probable RNA polymerase II nuclear localization protein SLC7A6OS 309 35028 4.52 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Directs RNA polymerase II nuclear import. NA Belongs to the IWR1/SLC7A6OS family. NA PE1 16 +NX_Q96CW9 Netrin-G2 530 59799 6.13 0 Cell membrane;Cytoskeleton;Midbody ring NA Involved in controlling patterning and neuronal circuit formation at the laminar, cellular, subcellular and synaptic levels. Promotes neurite outgrowth of both axons and dendrites. N-glycosylated. NA Post-translational modification: synthesis of GPI-anchored proteins PE1 9 +NX_Q96CX2 BTB/POZ domain-containing protein KCTD12 325 35701 5.51 0 Mitochondrion;Presynaptic cell membrane;Postsynaptic cell membrane NA Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity). NA NA NA PE1 13 +NX_Q96CX3 Zinc finger protein 501 271 31179 9.39 0 Endoplasmic reticulum;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 3 +NX_Q96CX6 Leucine-rich repeat-containing protein 58 371 40586 6.41 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 3 +NX_Q96D03 DNA damage-inducible transcript 4-like protein 193 21740 7.49 0 Cytoplasm;Nucleoplasm;Cell membrane;Cytoskeleton NA Inhibits cell growth by regulating the TOR signaling pathway upstream of the TSC1-TSC2 complex and downstream of AKT1. NA Belongs to the DDIT4 family. NA PE1 4 +NX_Q96D05 Protein FAM241B 121 13238 11.58 1 Membrane;Nucleoplasm;Cytosol;Centrosome NA May play a role in lysosome homeostasis. NA Belongs to the FAM241 family. NA PE1 10 +NX_Q96D09 G-protein coupled receptor-associated sorting protein 2 838 93773 4.96 0 Nucleoplasm;Cytoplasm;Cytosol Deafness, X-linked, 7 May play a role in regulation of a variety of G-protein coupled receptors. NA Belongs to the GPRASP family. NA PE1 X +NX_Q96D15 Reticulocalbin-3 328 37493 4.74 0 Endoplasmic reticulum;Endoplasmic reticulum lumen;Cytoplasmic vesicle NA Probable molecular chaperone assisting protein biosynthesis and transport in the endoplasmic reticulum (PubMed:16433634, PubMed:28939891). Required for the proper biosynthesis and transport of pulmonary surfactant-associated protein A/SP-A, pulmonary surfactant-associated protein D/SP-D and the lipid transporter ABCA3 (By similarity). By regulating both the proper expression and the degradation through the endoplasmic reticulum-associated protein degradation pathway of these proteins plays a crucial role in pulmonary surfactant homeostasis (By similarity). Has an anti-fibrotic activity by negatively regulating the secretion of type I and type III collagens (PubMed:28939891). This calcium-binding protein also transiently associates with immature PCSK6 and regulates its secretion (PubMed:16433634). N-glycosylated.;Degraded by PCSK6 and other endoproteases including FURIN and PCSK5. Belongs to the CREC family. NA PE1 19 +NX_Q96D21 GTP-binding protein Rhes 266 30366 9.09 0 Cytosol;Cell membrane NA GTPase signaling protein that binds to and hydrolyzes GTP. Regulates signaling pathways involving G-proteins-coupled receptor and heterotrimeric proteins such as GNB1, GNB2 and GNB3. May be involved in selected striatal competencies, mainly locomotor activity and motor coordination. Farnesylated. Farnesylation is required for membrane targeting (By similarity). Belongs to the small GTPase superfamily. RasD family. NA PE1 22 +NX_Q96D31 Calcium release-activated calcium channel protein 1 301 32668 8.45 4 Cytosol;Cell membrane Myopathy, tubular aggregate, 2;Immunodeficiency 9 Ca(2+) release-activated Ca(2+) (CRAC) channel subunit which mediates Ca(2+) influx following depletion of intracellular Ca(2+) stores and channel activation by the Ca(2+) sensor, STIM1 (PubMed:16582901, PubMed:16645049, PubMed:16733527, PubMed:16766533, PubMed:16807233, PubMed:19249086, PubMed:23307288, PubMed:24351972, PubMed:24591628, PubMed:28219928). CRAC channels are the main pathway for Ca(2+) influx in T-cells and promote the immune response to pathogens by activating the transcription factor NFAT (PubMed:16582901). N-glycosylated.;Cys-195 is oxidated, leading to inactivate channel activity.;Ubiquitinated. Belongs to the Orai family. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Elevation of cytosolic Ca2+ levels;Ion homeostasis PE1 12 +NX_Q96D42 Hepatitis A virus cellular receptor 1 364 39250 6.44 1 Membrane;Cytoplasmic vesicle NA May play a role in T-helper cell development and the regulation of asthma and allergic diseases. Receptor for TIMD4 (By similarity). May play a role in kidney injury and repair.;(Microbial infection) Acts as a receptor for Hepatitis A virus.;(Microbial infection) Acts as a receptor for Dengue virus by binding exposed phosphatidyl-serine at the surface of virion membrane.;(Microbial infection) Acts as a receptor for Ebolavirus and Marburg virus by binding exposed phosphatidyl-serine at the surface of virion membrane. NA Belongs to the immunoglobulin superfamily. TIM family. NA PE1 5 +NX_Q96D46 60S ribosomal export protein NMD3 503 57603 6.76 0 Nucleoplasm;Nucleus;Cytoplasm;Nucleolus NA Acts as an adapter for the XPO1/CRM1-mediated export of the 60S ribosomal subunit. NA Belongs to the NMD3 family. Ribosome biogenesis in eukaryotes;RNA transport PE1 3 +NX_Q96D53 Atypical kinase COQ8B, mitochondrial 544 60069 6.84 1 Mitochondrion membrane;Cytosol;Mitochondrion;Cell membrane Nephrotic syndrome 9 Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:24270420). Its substrate specificity is unclear: does not show any protein kinase activity. Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway. Required for podocyte migration (PubMed:24270420). NA Belongs to the protein kinase superfamily. ADCK protein kinase family. NA PE1 19 +NX_Q96D59 E3 ubiquitin-protein ligase RNF183 192 21617 7.59 1 Endoplasmic reticulum;Lysosome membrane;cis-Golgi network membrane;Endoplasmic reticulum membrane NA Acts as a E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (PubMed:29507230). Triggers apoptosis in response to prolonged ER stress by mediating the polyubiquitination and subsequent proteasomal degradation of BCL2L1 (PubMed:29507230). May collaborate with FATE1 to restrain BIK protein levels thus regulating apoptotic signaling (PubMed:26567849). Autoubiquitinated (in vitro). NA Protein modification; protein ubiquitination. PE1 9 +NX_Q96D70 R3H domain-containing protein 4 268 30350 8.82 0 Nucleoplasm;Cytosol;Nucleus NA NA NA NA NA PE1 19 +NX_Q96D71 RalBP1-associated Eps domain-containing protein 1 796 86662 5.45 0 Cytoplasmic vesicle;Cytosol;Clathrin-coated pit;Cell membrane Neurodegeneration with brain iron accumulation 7 May coordinate the cellular actions of activated EGF receptors and Ral-GTPases. EGF stimulates phosphorylation on Tyr-residues. NA Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 6 +NX_Q96D96 Voltage-gated hydrogen channel 1 273 31683 6.33 4 Membrane;Cell membrane NA Mediates the voltage-dependent proton permeability of excitable membranes. Forms a proton-selective channel through which protons may pass in accordance with their electrochemical gradient. Proton efflux, accompanied by membrane depolarization, facilitates acute production of reactive oxygen species in phagocytosis. Phosphorylation may enhance channel gating. Belongs to the hydrogen channel family. ROS and RNS production in phagocytes;Sperm Motility And Taxes;Neutrophil degranulation PE1 12 +NX_Q96D98 EP300-interacting inhibitor of differentiation 2B 161 16985 4.67 0 Nucleus NA Acts as a repressor of MYOD-dependent transcription, glucocorticoid receptor-dependent transcription, and muscle differentiation. NA NA NA PE1 19 +NX_Q96DA0 Zymogen granule protein 16 homolog B 208 22739 6.74 0 Cytoplasmic vesicle;Nucleoplasm;Secreted NA NA NA Belongs to the jacalin lectin family. NA PE1 16 +NX_Q96DA2 Ras-related protein Rab-39B 213 24622 7.69 0 Golgi apparatus;Cytoplasmic vesicle membrane;Cell membrane Mental retardation, X-linked 72;Waisman syndrome Small GTPases Rab involved in autophagy (PubMed:27103069). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:27103069). May regulate the homeostasis of SNCA/alpha-synuclein. Together with PICK1 proposed to ensure selectively GRIA2 exit from the endoplasmic reticulum to the Golgi and to regulate AMPAR compostion at the post-synapses and thus synaptic transmission (By similarity). NA Belongs to the small GTPase superfamily. Rab family. RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 X +NX_Q96DA6 Mitochondrial import inner membrane translocase subunit TIM14 116 12499 10.1 1 Mitochondrion inner membrane 3-methylglutaconic aciduria 5 Probable component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. May act as a co-chaperone that stimulate the ATP-dependent activity (By similarity). NA Belongs to the TIM14 family. Mitochondrial protein import PE1 3 +NX_Q96DB2 Histone deacetylase 11 347 39183 7.17 0 Nucleus;Cell membrane NA Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. NA Belongs to the histone deacetylase family. Notch-HLH transcription pathway;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants PE1 3 +NX_Q96DB5 Regulator of microtubule dynamics protein 1 314 35808 8.64 0 Cytoplasm;Spindle pole;Centrosome;Spindle;Cytoskeleton NA NA NA Belongs to the RMDN family. NA PE1 8 +NX_Q96DB9 FXYD domain-containing ion transport regulator 5 178 19472 5.51 1 Membrane;Endoplasmic reticulum;Cell membrane NA Involved in down-regulation of E-cadherin which results in reduced cell adhesion. Promotes metastasis. Glycosylated. Belongs to the FXYD family. NA PE1 19 +NX_Q96DC7 Transmembrane and coiled-coil domain-containing protein 6 493 54442 5.58 2 Membrane;Nucleoplasm;Mitochondrion NA NA NA NA NA PE1 5 +NX_Q96DC8 Enoyl-CoA hydratase domain-containing protein 3, mitochondrial 303 32634 8.9 0 Mitochondrion NA May play a role in fatty acid biosynthesis and insulin sensitivity. NA Belongs to the enoyl-CoA hydratase/isomerase family. NA PE1 10 +NX_Q96DC9 Ubiquitin thioesterase OTUB2 234 27213 5.81 0 NA NA Hydrolase that can remove conjugated ubiquitin from proteins in vitro and may therefore play an important regulatory role at the level of protein turnover by preventing degradation. Mediates deubiquitination of 'Lys-11'-,'Lys-48'- and 'Lys-63'-linked polyubiquitin chains, with a preference for 'Lys-63'-linked polyubiquitin chains. NA Belongs to the peptidase C65 family. Ovarian tumor domain proteases PE1 14 +NX_Q96DD0 Leucine-rich repeat-containing protein 39 335 38793 5.99 0 M line NA Component of the sarcomeric M-band which plays a role in myocyte response to biomechanical stress. May regulate expression of other M-band proteins via an SRF-dependent pathway. Important for normal contractile function in heart. NA NA NA PE1 1 +NX_Q96DD7 Protein shisa-4 197 21522 8.21 1 Membrane NA NA NA Belongs to the shisa family. NA PE1 1 +NX_Q96DE0 U8 snoRNA-decapping enzyme 195 21273 6.38 0 Nucleoplasm;Nucleus;Cytoplasm;Nucleolus NA RNA-binding and decapping enzyme that catalyzes the cleavage of the cap structure of snoRNAs and mRNAs in a metal-dependent manner. Part of the U8 snoRNP complex that is required for the accumulation of mature 5.8S and 28S rRNA. Has diphosphatase activity and removes m7G and/or m227G caps from U8 snoRNA and leaves a 5'monophosphate on the RNA. Catalyzes also the cleavage of the cap structure on mRNAs. Does not hydrolyze cap analog structures like 7-methylguanosine nucleoside triphosphate (m7GpppG). Also hydrolysis m7G- and m227G U3-capped RNAs but with less efficiencies. Has broad substrate specificity with manganese or cobalt as cofactor and can act on various RNA species. Binds to the U8 snoRNA; metal is not required for RNA-binding. May play a role in the regulation of snoRNAs and mRNAs degradation. Acts also as a phosphatase; hydrolyzes the non-canonical purine nucleotides inosine diphosphate (IDP) and deoxyinosine diphosphate (dITP) as well as guanosine diphosphate (GDP), deoxyguanosine diphosphate (dGDP), xanthine diphosphate (XDP), inosine triphosphate (ITP) and deoxyinosine triphosphate (ITP) to their respective monophosphate derivatives and does not distinguish between the deoxy- and ribose forms (PubMed:20385596, PubMed:26121039). The order of activity with different substrates is IDP > dIDP >> GDP = dGDP > XDP = ITP = dITP (PubMed:20385596). Binds strongly to GTP, ITP and XTP. Participates in the hydrolysis of dIDP/IDP and probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions (PubMed:20385596). NA Belongs to the Nudix hydrolase family. NUDT16 subfamily. Phosphate bond hydrolysis by NUDT proteins PE1 3 +NX_Q96DE5 Anaphase-promoting complex subunit 16 110 11667 4.91 0 Kinetochore;Cytoplasm;Cytosol;Nucleus NA Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. NA Belongs to the APC16 family. Protein modification; protein ubiquitination.;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;CDK-mediated phosphorylation and removal of Cdc6;Senescence-Associated Secretory Phenotype (SASP);Autodegradation of Cdh1 by Cdh1:APC/C;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of Cyclin B;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;APC/C:Cdc20 mediated degradation of mitotic proteins;Phosphorylation of the APC/C;APC-Cdc20 mediated degradation of Nek2A PE1 10 +NX_Q96DE9 Protein CXorf40B 158 17780 6.43 0 NA NA NA NA NA NA PE2 X +NX_Q96DF8 Splicing factor ESS-2 homolog 476 52568 7.06 0 Nucleoplasm;Nucleus NA May be involved in pre-mRNA splicing. NA Belongs to the ESS2 family. NA PE1 22 +NX_Q96DG6 Carboxymethylenebutenolidase homolog 245 28048 6.71 0 Cytosol NA Cysteine hydrolase. Can convert the prodrug olmesartan medoxomil into its pharmacologically active metabolite olmerstatan, an angiotensin receptor blocker, in liver and intestine. May also activate beta-lactam antibiotics faropenem medoxomil and lenampicillin. NA Belongs to the dienelactone hydrolase family. Metabolic pathways;Phase I - Functionalization of compounds PE1 5 +NX_Q96DH6 RNA-binding protein Musashi homolog 2 328 35197 8.62 0 Cytoplasm;Cytosol NA RNA binding protein that regulates the expression of target mRNAs at the translation level. May play a role in the proliferation and maintenance of stem cells in the central nervous system (By similarity). Phosphorylated. Belongs to the Musashi family. mRNA surveillance pathway PE1 17 +NX_Q96DI7 U5 small nuclear ribonucleoprotein 40 kDa protein 357 39311 8.34 0 Nucleus speckle;Nucleus NA Required for pre-mRNA splicing as component of the activated spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30705154). Component of the U5 small nuclear ribonucleoprotein (snRNP) complex and the U4/U6-U5 tri-snRNP complex, building blocks of the spliceosome (PubMed:9774689, PubMed:16723661, PubMed:26912367). NA NA Spliceosome;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway PE1 1 +NX_Q96DL1 NXPE family member 2 559 64901 8.85 1 Membrane NA NA NA Belongs to the NXPE family. NA PE1 11 +NX_Q96DM1 PiggyBac transposable element-derived protein 4 585 67004 9.29 0 Nucleoplasm;Centrosome NA NA NA NA NA PE1 15 +NX_Q96DM3 Regulator of MON1-CCZ1 complex 657 74975 7.89 0 Nucleoplasm;Lysosome membrane;Late endosome membrane NA Componement of the CCZ1-MON1 RAB7A guanine exchange factor (GEF). Acts as a positive regulator of CCZ1-MON1A/B function necessary for endosomal/autophagic flux and efficient RAB7A localization (PubMed:29038162). NA Belongs to the RMC1 family. NA PE1 18 +NX_Q96DN0 Endoplasmic reticulum resident protein 27 273 30480 4.57 0 Endoplasmic reticulum lumen NA Specifically binds unfolded proteins and may recruit protein disulfide isomerase PDIA3 to unfolded substrates (PubMed:16940051, PubMed:23192347). Binds protein substrates via a hydrophobic pocket in the C-terminal domain (PubMed:16940051, PubMed:23192347). May play a role in the unfolded stress response (PubMed:23192347). NA Belongs to the protein disulfide isomerase family. NA PE1 12 +NX_Q96DN2 von Willebrand factor C and EGF domain-containing protein 955 99915 6.06 0 Nucleoplasm;Cytosol;Secreted;Cytoplasmic vesicle NA May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of hapatocellular carcinoma. NA NA NA PE1 11 +NX_Q96DN5 TBC1 domain family member 31 1066 124189 8.84 0 Centrosome NA NA NA NA NA PE1 8 +NX_Q96DN6 Methyl-CpG-binding domain protein 6 1003 101201 9.72 0 Nucleoplasm;Nucleus;Chromosome NA Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro). NA NA UCH proteinases PE1 12 +NX_Q96DP5 Methionyl-tRNA formyltransferase, mitochondrial 389 43832 9.7 0 Nucleoplasm;Cytosol;Mitochondrion Combined oxidative phosphorylation deficiency 15;Mitochondrial complex I deficiency, nuclear type 27 Formylates methionyl-tRNA in mitochondria. A single tRNA(Met) gene gives rise to both an initiator and an elongator species via an unknown mechanism (By similarity). NA Belongs to the Fmt family. One carbon pool by folate;Aminoacyl-tRNA biosynthesis;Mitochondrial translation initiation PE1 15 +NX_Q96DR4 StAR-related lipid transfer protein 4 205 23517 5.12 0 Cell membrane NA Involved in the intracellular transport of cholesterol. Binds cholesterol or other sterols. NA NA Pregnenolone biosynthesis PE1 5 +NX_Q96DR5 BPI fold-containing family A member 2 249 27011 5.35 0 Secreted NA Has strong antibacterial activity against P. Aeruginosa. NA Belongs to the BPI/LBP/Plunc superfamily. Plunc family. Antimicrobial peptides PE1 20 +NX_Q96DR7 Rho guanine nucleotide exchange factor 26 871 97346 9.07 0 Ruffle;Nucleoplasm;Cytosol;Cell membrane NA Activates RhoG GTPase by promoting the exchange of GDP by GTP. Required for the formation of membrane ruffles during macropinocytosis. Required for the formation of cup-like structures during trans-endothelial migration of leukocytes. In case of Salmonella enterica infection, activated by SopB, which induces cytoskeleton rearrangements and promotes bacterial entry. NA NA Bacterial invasion of epithelial cells;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 3 +NX_Q96DR8 Mucin-like protein 1 90 9039 4.41 0 Membrane;Secreted NA May play a role as marker for the diagnosis of metastatic breast cancer. O-glycosylated. NA O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1) PE1 12 +NX_Q96DS6 Membrane-spanning 4-domains subfamily A member 6E 147 15909 8.48 2 Membrane NA May be involved in signal transduction as a component of a multimeric receptor complex. NA Belongs to the MS4A family. NA PE2 11 +NX_Q96DT0 Galectin-12 336 37542 9.3 0 Nucleus NA Binds lactose. May participate in the apoptosis of adipocytes. NA NA NA PE1 11 +NX_Q96DT5 Dynein heavy chain 11, axonemal 4516 520369 6.03 0 Cilium axoneme Ciliary dyskinesia, primary, 7 Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. NA Belongs to the dynein heavy chain family. NA PE1 7 +NX_Q96DT6 Cysteine protease ATG4C 458 52497 5.65 0 Nucleoplasm;Cytosol;Cytoplasm NA Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy. Is not essential for autophagy development under normal conditions but is required for a proper autophagic response under stressful conditions such as prolonged starvation (By similarity). Cleaves the C-terminal amino acid of ATG8 family proteins MAP1LC3 and GABARAPL2, to reveal a C-terminal glycine. Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy. Has also an activity of delipidating enzyme for the PE-conjugated forms. NA Belongs to the peptidase C54 family. Regulation of autophagy;Macroautophagy PE1 1 +NX_Q96DT7 Zinc finger and BTB domain-containing protein 10 871 94894 5.05 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 8 +NX_Q96DU3 SLAM family member 6 332 37345 6.32 1 Cytosol;Cell membrane NA Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Triggers cytolytic activity only in natural killer cells (NK) expressing high surface densities of natural cytotoxicity receptors (PubMed:11489943, PubMed:16920955). Positive signaling in NK cells implicates phosphorylation of VAV1. NK cell activation seems to depend on SH2D1B and not on SH2D1A (PubMed:16920955). In conjunction with SLAMF1 controls the transition between positive selection and the subsequent expansion and differentiation of the thymocytic natural killer T (NKT) cell lineage (By similarity). Promotes T-cell differentiation into a helper T-cell Th17 phenotype leading to increased IL-17 secretion; the costimulatory activity requires SH2D1A (PubMed:22184727, PubMed:16920955). Promotes recruitment of RORC to the IL-17 promoter (PubMed:22989874). In conjunction with SLAMF1 and CD84/SLAMF5 may be a negative regulator of the humoral immune response. In the absence of SH2D1A/SAP can transmit negative signals to CD4(+) T-cells and NKT cells. Negatively regulates germinal center formation by inhibiting T-cell:B-cell adhesion; the function probably implicates increased association with PTPN6/SHP-1 via ITSMs in absence of SH2D1A/SAP. However, reported to be involved in maintaining B-cell tolerance in germinal centers and in preventing autoimmunity (By similarity). Phosphorylation in NK cells upon engagment by SLAMF6-expressing target cells is leading to receptor activation. NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 1 +NX_Q96DU7 Inositol-trisphosphate 3-kinase C 683 75207 5.03 0 Cytoplasm;Nucleus speckle;Nucleus Kawasaki disease Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate. NA Belongs to the inositol phosphokinase (IPK) family. Synthesis of IP3 and IP4 in the cytosol PE1 19 +NX_Q96DU9 Polyadenylate-binding protein 5 382 43331 9.55 0 Cytoplasm;Mitochondrion matrix NA Binds the poly(A) tail of mRNA. May be involved in cytoplasmic regulatory processes of mRNA metabolism. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo (By similarity). NA NA RNA transport;mRNA surveillance pathway;RNA degradation PE1 X +NX_Q96DV4 39S ribosomal protein L38, mitochondrial 380 44597 7.19 0 Mitochondrion NA NA NA Belongs to the phosphatidylethanolamine-binding protein family. Mitochondrion-specific ribosomal protein mL38 subfamily. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 17 +NX_Q96DW6 Mitochondrial glycine transporter 304 33566 9.57 6 Mitochondrion inner membrane Anemia, sideroblastic, 2, pyridoxine-refractory Mitochondrial glycine transporter that imports glycine into the mitochondrial matrix. Plays an important role in providing glycine for the first enzymatic step in heme biosynthesis, the condensation of glycine with succinyl-CoA to produce 5-aminolevulinate (ALA) in the mitochondrial matrix. Required during erythropoiesis. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. SLC25A38 subfamily. NA PE1 3 +NX_Q96DX4 RING finger and SPRY domain-containing protein 1 576 64180 5.35 0 Secreted Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type NA NA NA NA PE1 16 +NX_Q96DX5 Ankyrin repeat and SOCS box protein 9 294 31858 6.48 0 Mitochondrion NA Substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes at least two forms of creatine kinase, CKB and CKMT1A. NA Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 X +NX_Q96DX7 Tripartite motif-containing protein 44 344 38472 4.16 0 Cytoplasmic vesicle;Cell membrane Aniridia 3 May play a role in the process of differentiation and maturation of neuronal cells (By similarity). May regulate the activity of TRIM17. Is a negative regulator of PAX6 expression (PubMed:26394807). NA NA NA PE1 11 +NX_Q96DX8 Receptor-transporting protein 4 246 27863 8.56 1 Membrane;Nucleoplasm NA Probable chaperone protein which facilitates trafficking and functional cell surface expression of some G-protein coupled receptors (GPCRs). Promotes functional expression of the bitter taste receptor TAS2R16 (PubMed:16720576). Also promotes functional expression of the opioid receptor heterodimer OPRD1-OPRM1 (By similarity). NA Belongs to the TMEM7 family. Olfactory Signaling Pathway PE1 3 +NX_Q96DY2 Dynein regulatory complex protein 10 449 52359 9.26 0 Nucleoplasm;Flagellum axoneme NA Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. NA Belongs to the DRC10 family. NA PE1 12 +NX_Q96DY7 Mdm2-binding protein 904 102193 7.91 0 Nucleoplasm;Nucleus NA Inhibits cell migration in vitro and suppresses the invasive behavior of tumor cells (By similarity). May play a role in MDM2-dependent p53/TP53 homeostasis in unstressed cells. Inhibits autoubiquitination of MDM2, thereby enhancing MDM2 stability. This promotes MDM2-mediated ubiquitination of p53/TP53 and its subsequent degradation. NA Belongs to the MTBP family. NA PE1 8 +NX_Q96DZ1 Endoplasmic reticulum lectin 1 483 54858 5.88 0 Endoplasmic reticulum lumen NA Probable lectin that binds selectively to improperly folded lumenal proteins. May function in endoplasmic reticulum quality control and endoplasmic reticulum-associated degradation (ERAD) of both non-glycosylated proteins and glycoproteins. Are N-glycosylated. NA Protein processing in endoplasmic reticulum;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis PE1 2 +NX_Q96DZ5 CAP-Gly domain-containing linker protein 3 547 59560 7.93 0 Golgi apparatus;Cytoplasm;Golgi stack;Cell membrane NA Functions as a cytoplasmic linker protein. Involved in TGN-endosome dynamics. May modulate the cellular compartmentalization of AKT kinase family and promote its cell membrane localization, thereby playing a role in glucose transport in adipocytes. Palmitoylation by ZDHHC17 regulates association with the plasma membrane. NA Regulation of TNFR1 signaling PE1 19 +NX_Q96DZ7 Transmembrane 4 L6 family member 19 209 22433 8.87 4 Membrane NA NA NA Belongs to the L6 tetraspanin family. NA PE2 3 +NX_Q96DZ9 CKLF-like MARVEL transmembrane domain-containing protein 5 223 24653 6.13 4 Golgi apparatus;Cytoplasmic vesicle;Membrane NA NA NA Belongs to the chemokine-like factor family. NA PE1 14 +NX_Q96E09 Protein FAM122A 287 30529 6.32 0 Nucleoplasm;Nucleus NA Acts as an inhibitor of serine/threonine-protein phosphatase 2A (PP2A) activity. Potentiates ubiquitin-mediated proteasomal degradation of serine/threonine-protein phosphatase 2A catalytic subunit alpha (PPP2CA). NA Belongs to the FAM122 family. NA PE1 9 +NX_Q96E11 Ribosome-recycling factor, mitochondrial 262 29277 9.8 0 Mitochondrion;Cytoskeleton NA Responsible for the release of ribosomes from messenger RNA at the termination of protein biosynthesis. May increase the efficiency of translation by recycling ribosomes from one round of translation to another (By similarity). NA Belongs to the RRF family. Mitochondrial translation termination PE1 9 +NX_Q96E14 RecQ-mediated genome instability protein 2 147 15865 7.76 0 Cytosol;Nucleus speckle;Nucleus NA Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates. It is required to regulate sister chromatid segregation and to limit DNA crossover. Essential for the stability, localization, and function of BLM, TOP3A, and complexes containing BLM. In the RMI complex, it is required to target BLM to chromatin and stress-induced nuclear foci and mitotic phosphorylation of BLM. Phosphorylated during mitosis. Belongs to the RMI2 family. Fanconi anemia pathway;G2/M DNA damage checkpoint;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Regulation of TP53 Activity through Phosphorylation PE1 16 +NX_Q96E16 Small integral membrane protein 19 107 12439 5.37 1 Membrane;Nucleus speckle NA NA NA Belongs to the SMIM19 family. NA PE1 8 +NX_Q96E17 Ras-related protein Rab-3C 227 25952 5.09 0 Cytosol;Cell membrane NA Protein transport. Probably involved in vesicular traffic (By similarity). Phosphorylation of Thr-94 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitor GDI2. Belongs to the small GTPase superfamily. Rab family. RAB geranylgeranylation PE1 5 +NX_Q96E22 Dehydrodolichyl diphosphate synthase complex subunit NUS1 293 33224 8.81 3 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cell membrane Congenital disorder of glycosylation 1AA;Mental retardation, autosomal dominant 55, with seizures With DHDDS, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. Condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) (PubMed:21572394, PubMed:25066056, PubMed:28842490). Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol. Acts as a specific receptor for the N-terminus of Nogo-B, a neural and cardiovascular regulator (PubMed:16835300). NA Belongs to the UPP synthase family. Lipid metabolism.;Protein modification; protein glycosylation.;Synthesis of Dolichyl-phosphate;Defective DHDDS causes retinitis pigmentosa 59 PE1 6 +NX_Q96E29 Transcription termination factor 3, mitochondrial 417 47971 8.6 0 Nucleoplasm;Mitochondrion NA Binds promoter DNA and regulates initiation of transcription (PubMed:17662942). Required for normal mitochondrial transcription and translation, and for normal assembly of mitochondrial respiratory complexes. Required for normal mitochondrial function (By similarity). Maintains 16S rRNA levels and functions in mitochondrial ribosome assembly by regulating the biogenesis of the 39S ribosomal subunit (By similarity). NA Belongs to the mTERF family. Pink/Parkin Mediated Mitophagy PE1 8 +NX_Q96E35 Zinc finger MYND domain-containing protein 19 227 26433 6.4 0 Cytoplasmic vesicle;Golgi apparatus;Cytoplasm;Cell membrane NA May be involved as a regulatory molecule in GPR24/MCH-R1 signaling. NA NA NA PE1 9 +NX_Q96E39 RNA binding motif protein, X-linked-like-1 390 42142 9.9 0 Nucleus NA RNA-binding protein which may be involved in pre-mRNA splicing. NA NA Spliceosome PE1 1 +NX_Q96E40 Sperm acrosome-associated protein 9 222 25166 9.3 0 Cytoplasm;Mitochondrion;Cilium basal body;Flagellum;Nucleus;Acrosome NA NA NA NA NA PE1 9 +NX_Q96E52 Metalloendopeptidase OMA1, mitochondrial 524 60120 9.36 2 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion NA Metalloprotease that is part of the quality control system in the inner membrane of mitochondria. Following stress conditions that induce loss of mitochondrial membrane potential, mediates cleavage of OPA1 at S1 position, leading to OPA1 inactivation and negative regulation of mitochondrial fusion. May also cleave UQCC3 under these conditions. Its role in mitochondrial quality control is essential for regulating lipid metabolism as well as to maintain body temperature and energy expenditure under cold-stress conditions. In normal conditions, cleaved into an inactive 40 kDa form. Following CCCP treatment that induces loss of mitochondrial membrane potential, the 40 kDa form is reduced in favor of an active 60 kDa form. Belongs to the peptidase M48 family. Regulation of Apoptosis PE1 1 +NX_Q96E66 Leucine-rich repeat-containing protein 51 192 22206 9.38 0 Cytoplasm;Cytoskeleton NA NA NA NA NA PE1 11 +NX_Q96E93 Killer cell lectin-like receptor subfamily G member 1 195 21831 5.27 1 Cytoplasmic vesicle;Cell membrane NA Plays an inhibitory role on natural killer (NK) cells and T-cell functions upon binding to their non-MHC ligands. May mediate missing self recognition by binding to a highly conserved site on classical cadherins, enabling it to monitor expression of E-cadherin/CDH1, N-cadherin/CDH2 and R-cadherin/CDH4 on target cells. NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 12 +NX_Q96EA4 Protein Spindly 605 70172 5.41 0 Kinetochore;Spindle pole;Centrosome;Cytosol;Nucleus NA Required for the localization of dynein and dynactin to the mitotic kintochore. Dynein is believed to control the initial lateral interaction between the kinetochore and spindle microtubules and to facilitate the subsequent formation of end-on kinetochore-microtubule attachments mediated by the NDC80 complex. Also required for correct spindle orientation. Does not appear to be required for the removal of spindle assembly checkpoint (SAC) proteins from the kinetochore upon bipolar spindle attachment (PubMed:17576797, PubMed:19468067). Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track) (PubMed:25035494). NA Belongs to the Spindly family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 5 +NX_Q96EB1 Elongator complex protein 4 424 46588 8.75 0 Cytoplasm;Nucleoplasm;Nucleus Aniridia 2 Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation (PubMed:11714725, PubMed:11818576, PubMed:16713582). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244). NA Belongs to the ELP4 family. tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis.;HATs acetylate histones PE1 11 +NX_Q96EB6 NAD-dependent protein deacetylase sirtuin-1 747 81681 4.55 0 Cytoplasm;Mitochondrion;Nucleoplasm;PML body;Cytosol;Nucleus NA Deacetylates 'Lys-382' of p53/TP53, however with lower activity than isoform 1. In combination, the two isoforms exert an additive effect.;SirtT1 75 kDa fragment: Catalytically inactive 75SirT1 may be involved in regulation of apoptosis. May be involved in protecting chondrocytes from apoptotic death by associating with cytochrome C and interfering with apoptosome assembly.;Regulates p53/TP53 expression and cellular stress response and is in turn repressed by p53/TP53 presenting a SIRT1 isoform-dependent auto-regulatory loop.;NAD-dependent protein deacetylase that links transcriptional regulation directly to intracellular energetics and participates in the coordination of several separated cellular functions such as cell cycle, response to DNA damage, metabolism, apoptosis and autophagy (PubMed:11672523, PubMed:12006491, PubMed:14976264, PubMed:14980222, PubMed:15126506, PubMed:15152190, PubMed:15205477, PubMed:15469825, PubMed:15692560, PubMed:16079181, PubMed:16166628, PubMed:16892051, PubMed:16998810, PubMed:17283066, PubMed:17290224, PubMed:17334224, PubMed:17505061, PubMed:17612497, PubMed:17620057, PubMed:17936707, PubMed:18203716, PubMed:18296641, PubMed:18662546, PubMed:18687677, PubMed:19188449, PubMed:19220062, PubMed:19364925, PubMed:19690166, PubMed:19934257, PubMed:20097625, PubMed:20100829, PubMed:20203304, PubMed:20375098, PubMed:20620956, PubMed:20670893, PubMed:20817729, PubMed:20955178, PubMed:21149730, PubMed:21245319, PubMed:21471201, PubMed:21504832, PubMed:21555002, PubMed:21698133, PubMed:21701047, PubMed:21775285, PubMed:21807113, PubMed:21841822, PubMed:21890893, PubMed:21947282, PubMed:22274616, PubMed:24415752, PubMed:24824780). Can modulate chromatin function through deacetylation of histones and can promote alterations in the methylation of histones and DNA, leading to transcriptional repression (PubMed:15469825). Deacetylates a broad range of transcription factors and coregulators, thereby regulating target gene expression positively and negatively (PubMed:15152190, PubMed:14980222, PubMed:14976264). Serves as a sensor of the cytosolic ratio of NAD(+)/NADH which is altered by glucose deprivation and metabolic changes associated with caloric restriction (PubMed:15205477). Is essential in skeletal muscle cell differentiation and in response to low nutrients mediates the inhibitory effect on skeletal myoblast differentiation which also involves 5'-AMP-activated protein kinase (AMPK) and nicotinamide phosphoribosyltransferase (NAMPT) (By similarity). Component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes (PubMed:18485871). The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus (PubMed:18485871, PubMed:21504832). Deacetylates 'Lys-266' of SUV39H1, leading to its activation (PubMed:21504832). Inhibits skeletal muscle differentiation by deacetylating PCAF and MYOD1 (PubMed:19188449). Deacetylates H2A and 'Lys-26' of HIST1H1E (PubMed:15469825). Deacetylates 'Lys-16' of histone H4 (in vitro). Involved in NR0B2/SHP corepression function through chromatin remodeling: Recruited to LRH1 target gene promoters by NR0B2/SHP thereby stimulating histone H3 and H4 deacetylation leading to transcriptional repression (PubMed:20375098). Proposed to contribute to genomic integrity via positive regulation of telomere length; however, reports on localization to pericentromeric heterochromatin are conflicting (By similarity). Proposed to play a role in constitutive heterochromatin (CH) formation and/or maintenance through regulation of the available pool of nuclear SUV39H1 (PubMed:15469825, PubMed:18004385). Upon oxidative/metabolic stress decreases SUV39H1 degradation by inhibiting SUV39H1 polyubiquitination by MDM2 (PubMed:18004385, PubMed:21504832). This increase in SUV39H1 levels enhances SUV39H1 turnover in CH, which in turn seems to accelerate renewal of the heterochromatin which correlates with greater genomic integrity during stress response (PubMed:18004385, PubMed:21504832). Deacetylates 'Lys-382' of p53/TP53 and impairs its ability to induce transcription-dependent proapoptotic program and modulate cell senescence (PubMed:11672523, PubMed:12006491). Deacetylates TAF1B and thereby represses rDNA transcription by the RNA polymerase I (By similarity). Deacetylates MYC, promotes the association of MYC with MAX and decreases MYC stability leading to compromised transformational capability (PubMed:19364925, PubMed:21807113). Deacetylates FOXO3 in response to oxidative stress thereby increasing its ability to induce cell cycle arrest and resistance to oxidative stress but inhibiting FOXO3-mediated induction of apoptosis transcriptional activity; also leading to FOXO3 ubiquitination and protesomal degradation (PubMed:14980222, PubMed:14976264, PubMed:21841822). Appears to have a similar effect on MLLT7/FOXO4 in regulation of transcriptional activity and apoptosis (PubMed:15126506). Deacetylates DNMT1; thereby impairs DNMT1 methyltransferase-independent transcription repressor activity, modulates DNMT1 cell cycle regulatory function and DNMT1-mediated gene silencing (PubMed:21947282). Deacetylates RELA/NF-kappa-B p65 thereby inhibiting its transactivating potential and augments apoptosis in response to TNF-alpha (PubMed:15152190). Deacetylates HIF1A, KAT5/TIP60, RB1 and HIC1 (PubMed:17620057, PubMed:17283066, PubMed:20100829, PubMed:20620956). Deacetylates FOXO1 resulting in its nuclear retention and enhancement of its transcriptional activity leading to increased gluconeogenesis in liver (PubMed:15692560). Inhibits E2F1 transcriptional activity and apoptotic function, possibly by deacetylation (PubMed:16892051). Involved in HES1- and HEY2-mediated transcriptional repression (PubMed:12535671). In cooperation with MYCN seems to be involved in transcriptional repression of DUSP6/MAPK3 leading to MYCN stabilization by phosphorylation at 'Ser-62' (PubMed:21698133). Deacetylates MEF2D (PubMed:16166628). Required for antagonist-mediated transcription suppression of AR-dependent genes which may be linked to local deacetylation of histone H3 (PubMed:17505061). Represses HNF1A-mediated transcription (By similarity). Required for the repression of ESRRG by CREBZF (PubMed:19690166). Deacetylates NR1H3 and NR1H2 and deacetylation of NR1H3 at 'Lys-434' positively regulates transcription of NR1H3:RXR target genes, promotes NR1H3 proteosomal degradation and results in cholesterol efflux; a promoter clearing mechanism after reach round of transcription is proposed (PubMed:17936707). Involved in lipid metabolism (PubMed:20817729). Implicated in regulation of adipogenesis and fat mobilization in white adipocytes by repression of PPARG which probably involves association with NCOR1 and SMRT/NCOR2 (By similarity). Deacetylates p300/EP300 and PRMT1 (By similarity). Deacetylates ACSS2 leading to its activation, and HMGCS1 deacetylation (PubMed:21701047). Involved in liver and muscle metabolism. Through deacetylation and activation of PPARGC1A is required to activate fatty acid oxidation in skeletel muscle under low-glucose conditions and is involved in glucose homeostasis. Involved in regulation of PPARA and fatty acid beta-oxidation in liver. Involved in positive regulation of insulin secretion in pancreatic beta cells in response to glucose; the function seems to imply transcriptional repression of UCP2. Proposed to deacetylate IRS2 thereby facilitating its insulin-induced tyrosine phosphorylation. Deacetylates SREBF1 isoform SREBP-1C thereby decreasing its stability and transactivation in lipogenic gene expression (PubMed:17290224, PubMed:20817729). Involved in DNA damage response by repressing genes which are involved in DNA repair, such as XPC and TP73, deacetylating XRCC6/Ku70, and facilitating recruitment of additional factors to sites of damaged DNA, such as SIRT1-deacetylated NBN can recruit ATM to initiate DNA repair and SIRT1-deacetylated XPA interacts with RPA2 (PubMed:15205477, PubMed:17334224, PubMed:16998810, PubMed:17612497, PubMed:20670893, PubMed:21149730). Also involved in DNA repair of DNA double-strand breaks by homologous recombination and specifically single-strand annealing independently of XRCC6/Ku70 and NBN (PubMed:15205477, PubMed:17334224, PubMed:20097625). Transcriptional suppression of XPC probably involves an E2F4:RBL2 suppressor complex and protein kinase B (AKT) signaling. Transcriptional suppression of TP73 probably involves E2F4 and PCAF. Deacetylates WRN thereby regulating its helicase and exonuclease activities and regulates WRN nuclear translocation in response to DNA damage (PubMed:18203716). Deacetylates APEX1 at 'Lys-6' and 'Lys-7' and stimulates cellular AP endonuclease activity by promoting the association of APEX1 to XRCC1 (PubMed:19934257). Increases p53/TP53-mediated transcription-independent apoptosis by blocking nuclear translocation of cytoplasmic p53/TP53 and probably redirecting it to mitochondria. Deacetylates XRCC6/Ku70 at 'Lys-539' and 'Lys-542' causing it to sequester BAX away from mitochondria thereby inhibiting stress-induced apoptosis. Is involved in autophagy, presumably by deacetylating ATG5, ATG7 and MAP1LC3B/ATG8 (PubMed:18296641). Deacetylates AKT1 which leads to enhanced binding of AKT1 and PDK1 to PIP3 and promotes their activation (PubMed:21775285). Proposed to play role in regulation of STK11/LBK1-dependent AMPK signaling pathways implicated in cellular senescence which seems to involve the regulation of the acetylation status of STK11/LBK1. Can deacetylate STK11/LBK1 and thereby increase its activity, cytoplasmic localization and association with STRAD; however, the relevance of such activity in normal cells is unclear (PubMed:18687677, PubMed:20203304). In endothelial cells is shown to inhibit STK11/LBK1 activity and to promote its degradation. Deacetylates SMAD7 at 'Lys-64' and 'Lys-70' thereby promoting its degradation. Deacetylates CIITA and augments its MHC class II transactivation and contributes to its stability (PubMed:21890893). Deacetylates MECOM/EVI1 (PubMed:21555002). Deacetylates PML at 'Lys-487' and this deacetylation promotes PML control of PER2 nuclear localization (PubMed:22274616). During the neurogenic transition, repress selective NOTCH1-target genes through histone deacetylation in a BCL6-dependent manner and leading to neuronal differentiation. Regulates the circadian expression of several core clock genes, including ARNTL/BMAL1, RORC, PER2 and CRY1 and plays a critical role in maintaining a controlled rhythmicity in histone acetylation, thereby contributing to circadian chromatin remodeling (PubMed:18662546). Deacetylates ARNTL/BMAL1 and histones at the circadian gene promoters in order to facilitate repression by inhibitory components of the circadian oscillator (By similarity). Deacetylates PER2, facilitating its ubiquitination and degradation by the proteosome (By similarity). Protects cardiomyocytes against palmitate-induced apoptosis (By similarity). Deacetylates XBP1 isoform 2; deacetylation decreases protein stability of XBP1 isoform 2 and inhibits its transcriptional activity (PubMed:20955178). Deacetylates PCK1 and directs its activity toward phosphoenolpyruvate production promoting gluconeogenesis (PubMed:30193097). Involved in the CCAR2-mediated regulation of PCK1 and NR1D1 (PubMed:24415752). Deacetylates CTNB1 at 'Lys-49' (PubMed:24824780). In POMC (pro-opiomelanocortin) neurons, required for leptin-induced activation of PI3K signaling (By similarity).;(Microbial infection) In case of HIV-1 infection, interacts with and deacetylates the viral Tat protein. The viral Tat protein inhibits SIRT1 deacetylation activity toward RELA/NF-kappa-B p65, thereby potentiates its transcriptional activity and SIRT1 is proposed to contribute to T-cell hyperactivation during infection. Proteolytically cleaved by cathepsin B upon TNF-alpha treatment to yield catalytic inactive but stable SirtT1 75 kDa fragment (75SirT1).;S-nitrosylated by GAPDH, leading to inhibit the NAD-dependent protein deacetylase activity.;Methylated on multiple lysine residues; methylation is enhanced after DNA damage and is dispensable for deacetylase activity toward p53/TP53.;Phosphorylated. Phosphorylated by STK4/MST1, resulting in inhibition of SIRT1-mediated p53/TP53 deacetylation. Phosphorylation by MAPK8/JNK1 at Ser-27, Ser-47, and Thr-530 leads to increased nuclear localization and enzymatic activity. Phosphorylation at Thr-530 by DYRK1A and DYRK3 activates deacetylase activity and promotes cell survival. Phosphorylation by mammalian target of rapamycin complex 1 (mTORC1) at Ser-47 inhibits deacetylation activity. Phosphorylated by CaMK2, leading to increased p53/TP53 and NF-kappa-B p65/RELA deacetylation activity (By similarity). Phosphorylation at Ser-27 implicating MAPK9 is linked to protein stability. There is some ambiguity for some phosphosites: Ser-159/Ser-162 and Thr-544/Ser-545.;SIRT1 is phosphorylated by DYRK2;SIRT1 is phosphorylated by STK4 Belongs to the sirtuin family. Class I subfamily. Regulation of HSF1-mediated heat shock response;SIRT1 negatively regulates rRNA expression;Circadian Clock;Regulation of FOXO transcriptional activity by acetylation PE1 10 +NX_Q96EC8 Protein YIPF6 236 26256 5.46 5 Cytoplasmic vesicle;Endoplasmic reticulum;Golgi apparatus membrane NA May be required for stable YIPF1 and YIPF2 protein expression. NA Belongs to the YIP1 family. Golgi Associated Vesicle Biogenesis PE1 X +NX_Q96ED9 Protein Hook homolog 2 719 83207 5.36 0 Cytoplasm;Centrosome;Cytoplasmic vesicle;Cytosol;Cytoskeleton NA Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Contributes to the establishment and maintenance of centrosome function. May function in the positioning or formation of aggresomes, which are pericentriolar accumulations of misfolded proteins, proteasomes and chaperones. NA Belongs to the hook family. NA PE1 19 +NX_Q96EE3 Nucleoporin SEH1 360 39649 8.34 0 Lysosome membrane;Kinetochore;Nuclear pore complex NA Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. This subunit plays a role in recruitment of the Nup107-160 subcomplex to the kinetochore.;As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:25457612, PubMed:27487210). NA Belongs to the WD repeat SEC13 family. RNA transport;Separation of Sister Chromatids;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 18 +NX_Q96EE4 Coiled-coil domain-containing protein 126 140 15668 9.87 0 Nucleoplasm;Secreted NA NA NA NA NA PE1 7 +NX_Q96EF0 Myotubularin-related protein 8 704 78919 6.2 0 Nucleus envelope NA Phosphatase that acts on lipids with a phosphoinositol headgroup (PubMed:22647598, PubMed:26143924). Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate (PubMed:22647598, PubMed:26143924). In complex with MTMR9, negatively regulates autophagy (PubMed:22647598). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Synthesis of PIPs at the plasma membrane PE1 X +NX_Q96EF6 F-box only protein 17 278 31479 8.46 0 NA NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Able to recognize and bind denatured glycoproteins, which are modified with complex-type oligosaccharides. Also recognizes sulfated glycans. Does not bind high-mannose glycoproteins. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 19 +NX_Q96EF9 Zinc fingers and homeoboxes protein 1, isoform 2 292 33285 6.61 0 NA NA NA NA NA NA PE2 8 +NX_Q96EG1 Arylsulfatase G 525 57061 6.16 0 Lysosome Usher syndrome 4 Displays arylsulfatase activity at acidic pH with pseudosubstrates, such as p-nitrocatechol sulfate and also, but with lower activity, p-nitrophenyl sulfate and 4-methylumbelliferyl sulfate. N-glycosylated.;Glycosylated.;The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. Belongs to the sulfatase family. Lysosome;Glycosphingolipid metabolism;The activation of arylsulfatases PE1 17 +NX_Q96EG3 Zinc finger protein 837 531 58078 9.52 0 Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q96EH3 Mitochondrial assembly of ribosomal large subunit protein 1 234 26170 5.32 0 Mitochondrion matrix;Mitochondrion NA Required for normal mitochondrial ribosome function and mitochondrial translation (PubMed:22238375, PubMed:23171548). May play a role in ribosome biogenesis by preventing premature association of the 28S and 39S ribosomal subunits (Probable). Interacts with mitochondrial ribosomal protein L14 (MRPL14), probably blocking formation of intersubunit bridge B8, preventing association of the 28S and 39S ribosomal subunits (Probable). Addition to isolated mitochondrial ribosomal subunits partially inhibits translation, probably by interfering with the association of the 28S and 39S ribosomal subunits and the formation of functional ribosomes (Probable). May also participate in the assembly and/or regulation of the stability of the large subunit of the mitochondrial ribosome (PubMed:22238376, PubMed:23171548). May function as a ribosomal silencing factor (Probable). NA Belongs to the Iojap/RsfS family. NA PE1 7 +NX_Q96EH5 60S ribosomal protein L39-like 51 6293 12.41 0 NA NA NA NA Belongs to the eukaryotic ribosomal protein eL39 family. Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 3 +NX_Q96EH8 E3 ubiquitin-protein ligase NEURL3 262 28789 8.36 0 NA NA E3 ubiquitin-protein ligase. Seems to utilize UBE2E1. In vitro, generates polyubiquitin chains via non-canonical lysine residues suggesting that it is not involved in tagging substrates for proteasomal degradation. NA NA Protein modification; protein ubiquitination. PE2 2 +NX_Q96EI5 Transcription elongation factor A protein-like 4 215 24647 5.16 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the TFS-II family. TFA subfamily. NA PE1 X +NX_Q96EK2 PHD finger protein 21B 531 57455 9.43 0 Nucleoplasm;Nucleolus NA NA NA NA NA PE1 22 +NX_Q96EK4 THAP domain-containing protein 11 314 34455 9.18 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA Transcriptional repressor that plays a central role for embryogenesis and the pluripotency of embryonic stem (ES) cells. Sequence-specific DNA-binding factor that represses gene expression in pluripotent ES cells by directly binding to key genetic loci and recruiting epigenetic modifiers (By similarity). NA Belongs to the THAP11 family. NA PE1 16 +NX_Q96EK5 KIF-binding protein 621 71814 5.34 0 Cytoskeleton Goldberg-Shprintzen syndrome Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development. NA Belongs to the KIF-binding protein family. NA PE1 10 +NX_Q96EK6 Glucosamine 6-phosphate N-acetyltransferase 184 20749 8.17 0 Endosome membrane;Golgi apparatus membrane NA NA NA Belongs to the acetyltransferase family. GNA1 subfamily. Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; N-acetyl-alpha-D-glucosamine 1-phosphate from alpha-D-glucosamine 6-phosphate (route I): step 1/2.;Amino sugar and nucleotide sugar metabolism;Synthesis of UDP-N-acetyl-glucosamine PE1 14 +NX_Q96EK7 Constitutive coactivator of peroxisome proliferator-activated receptor gamma 910 103783 5.49 0 Nucleoplasm;Cytosol;Nucleus NA Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation (By similarity). NA Belongs to the constitutive coactivator of PPAR-gamma family. PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 6 +NX_Q96EK9 Protein KTI12 homolog 354 38616 6.47 0 Cytosol;Nucleus speckle NA NA NA Belongs to the KTI12 family. NA PE1 1 +NX_Q96EL1 PAK4-inhibitor INKA1 287 31574 5.2 0 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Nucleus NA Inhibitor of the serine/threonine-protein kinase PAK4 (PubMed:26607847). Acts by binding PAK4 in a substrate-like manner, inhibiting the protein kinase activity (PubMed:26607847). NA Belongs to the INKA family. NA PE1 3 +NX_Q96EL2 28S ribosomal protein S24, mitochondrial 167 19015 9.48 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uS3 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 7 +NX_Q96EL3 39S ribosomal protein L53, mitochondrial 112 12107 9.05 0 Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mL53 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 2 +NX_Q96EM0 Trans-3-hydroxy-L-proline dehydratase 354 38138 6.2 0 Cytoplasmic vesicle NA Catalyzes the dehydration of trans-3-hydroxy-L-proline to Delta(1)-pyrroline-2-carboxylate (Pyr2C). May be required to degrade trans-3-hydroxy-L-proline from the diet and originating from the degradation of proteins such as collagen-IV that contain it. NA Belongs to the proline racemase family. NA PE1 14 +NX_Q96EN8 Molybdenum cofactor sulfurase 888 98120 6.23 0 Cytosol;Mitochondrion Xanthinuria 2 Sulfurates the molybdenum cofactor. Sulfation of molybdenum is essential for xanthine dehydrogenase (XDH) and aldehyde oxidase (ADO) enzymes in which molybdenum cofactor is liganded by 1 oxygen and 1 sulfur atom in active form. In vitro, the C-terminal domain is able to reduce N-hydroxylated prodrugs, such as benzamidoxime. NA Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. MOCOS subfamily. Molybdenum cofactor biosynthesis PE1 18 +NX_Q96EN9 Required for excision 1-B domain-containing protein 201 22599 6.47 0 Cytoplasmic vesicle NA NA NA NA NA PE1 19 +NX_Q96EP0 E3 ubiquitin-protein ligase RNF31 1072 119652 6.14 0 Cytoplasm;Cytosol NA E3 ubiquitin-protein ligase component of the LUBAC complex which conjugates linear ('Met-1'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation (PubMed:17006537, PubMed:19136968, PubMed:20005846, PubMed:21455173, PubMed:21455180, PubMed:21455181, PubMed:22863777, PubMed:28189684). LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways (PubMed:17006537, PubMed:19136968, PubMed:20005846, PubMed:21455173, PubMed:21455180, PubMed:21455181, PubMed:22863777, PubMed:28189684). Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation (PubMed:21455173, PubMed:28189684). LUBAC is recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex (PubMed:20005846, PubMed:27458237). Together with OTULIN, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis (PubMed:23708998). Binds polyubiquitin of different linkage types (PubMed:23708998). Autoubiquitinated (PubMed:24726323). Interaction with OTULIN is required to suppress formation of 'Met-1'-linked polyubiquitin chains and prevent subsequent inactivation of the LUBAC complex (PubMed:24726323).;Cleaved by caspase during apoptosis. Belongs to the RBR family. Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway PE1 14 +NX_Q96EP1 E3 ubiquitin-protein ligase CHFR 664 73386 5.71 0 Nucleus;PML body;Cytoskeleton NA E3 ubiquitin-protein ligase that functions in the antephase checkpoint by actively delaying passage into mitosis in response to microtubule poisons. Acts in early prophase before chromosome condensation, when the centrosome move apart from each other along the periphery of the nucleus. Probably involved in signaling the presence of mitotic stress caused by microtubule poisons by mediating the 'Lys-48'-linked ubiquitination of target proteins, leading to their degradation by the proteasome. Promotes the ubiquitination and subsequent degradation of AURKA and PLK1. Probably acts as a tumor suppressor, possibly by mediating the polyubiquitination of HDAC1, leading to its degradation. May also promote the formation of 'Lys-63'-linked polyubiquitin chains and functions with the specific ubiquitin-conjugating UBC13-MMS2 (UBE2N-UBE2V2) heterodimer. Substrates that are polyubiquitinated at 'Lys-63' are usually not targeted for degradation, but are rather involved in signaling cellular stress. Phosphorylated by PKB. Phosphorylation may affect its E3 ligase activity.;Poly-ADP-ribosylated. In addition to binding non covalently poly(ADP-ribose) via its PBZ-type zinc finger, the protein is also covalently poly-ADP-ribosylated by PARP1.;Autoubiquitinated; may regulate its cellular level. Belongs to the CHFR family. Protein modification; protein ubiquitination. PE1 12 +NX_Q96EP5 DAZ-associated protein 1 407 43383 8.73 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA RNA-binding protein, which may be required during spermatogenesis. Acetylation at Lys-150 is predominantly observed in the nuclear fraction, and may regulate nucleocytoplasmic transport. NA mRNA surveillance pathway PE1 19 +NX_Q96EP9 Sodium/bile acid cotransporter 4 437 46504 5.09 7 Cell membrane NA Transporter for bile acids. Activated following N-terminal proteolytic cleavage by thrombin and/or proteases. Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. NA PE1 4 +NX_Q96EQ0 Small glutamine-rich tetratricopeptide repeat-containing protein beta 304 33429 4.8 0 Nucleoplasm NA Co-chaperone that binds directly to HSC70 and HSP70 and regulates their ATPase activity. NA Belongs to the SGT family. NA PE1 5 +NX_Q96EQ8 E3 ubiquitin-protein ligase RNF125 232 26454 6.74 0 Golgi apparatus;Nucleolus;Golgi apparatus membrane Tenorio syndrome E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins, such as DDX58/RIG-I, MAVS/IPS1, IFIH1/MDA5, JAK1 and p53/TP53 (PubMed:15843525, PubMed:17460044, PubMed:17643463, PubMed:26027934, PubMed:26471729, PubMed:25591766, PubMed:27411375). Acts as a negative regulator of type I interferon production by mediating ubiquitination of DDX58/RIG-I at 'Lys-181', leading to DDX58/RIG-I degradation (PubMed:17460044, PubMed:26471729). Mediates ubiquitination and subsequent degradation of p53/TP53 (PubMed:25591766). Mediates ubiquitination and subsequent degradation of JAK1 (PubMed:26027934). Acts as a positive regulator of T-cell activation (PubMed:15843525). Autoubiquitinated, leading to its subsequent proteasomal degradation. NA Protein modification; protein ubiquitination.;RIG-I-like receptor signaling pathway;Negative regulators of DDX58/IFIH1 signaling PE1 18 +NX_Q96ER3 Protein SAAL1 474 53558 4.38 0 Nucleoplasm;Nucleus NA Plays a role in promoting the proliferation of synovial fibroblasts in response to proinflammatory stimuli. NA Belongs to the SAAL1 family. NA PE1 11 +NX_Q96ER9 Coiled-coil domain-containing protein 51 411 45811 8.3 2 Membrane;Nucleoplasm;Mitochondrion;Centrosome NA NA NA NA NA PE1 3 +NX_Q96ES6 Major facilitator superfamily domain-containing protein 3 412 42696 9.34 12 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the major facilitator superfamily. NA PE1 8 +NX_Q96ES7 SAGA-associated factor 29 293 33238 8.2 0 Nucleoplasm;Nucleolus;Nucleus NA Chromatin reader component of some histone acetyltransferase (HAT) SAGA-type complexes like the TFTC-HAT, ATAC or STAGA complexes (PubMed:19103755, PubMed:20850016, PubMed:26421618, PubMed:21685874, PubMed:26578293). SGF29 specifically recognizes and binds methylated 'Lys-4' of histone H3 (H3K4me), with a preference for trimethylated form (H3K4me3) (PubMed:20850016, PubMed:26421618, PubMed:21685874, PubMed:26578293). In the SAGA-type complexes, SGF29 is required to recruit complexes to H3K4me (PubMed:20850016). Involved in the response to endoplasmic reticulum (ER) stress by recruiting the SAGA complex to H3K4me, thereby promoting histone H3 acetylation and cell survival (PubMed:23894581). NA Belongs to the SGF29 family. HATs acetylate histones PE1 16 +NX_Q96ET8 Golgi apparatus membrane protein TVP23 homolog C 276 31105 9.47 2 Membrane;Cell membrane NA NA NA Belongs to the TVP23 family. NA PE1 17 +NX_Q96EU6 Ribosomal RNA processing protein 36 homolog 259 29823 10.17 0 Nucleoplasm;Nucleolus NA Involved in the early processing steps of the pre-rRNA in the maturation pathway leading to the 18S rRNA. NA Belongs to the RRP36 family. rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 6 +NX_Q96EU7 C1GALT1-specific chaperone 1 318 36382 6.36 1 Membrane;Cytosol Tn polyagglutination syndrome Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1). NA Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily. Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins;Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) PE1 X +NX_Q96EV2 RNA-binding protein 33 1170 129986 6.45 0 Nucleoplasm NA NA NA NA NA PE1 7 +NX_Q96EV8 Dysbindin 351 39493 4.59 0 Cytoplasm;Endosome membrane;Postsynaptic cell membrane;Endoplasmic reticulum;Cytoplasmic vesicle membrane;Synaptic vesicle membrane;Postsynaptic density;Nucleus;Melanosome membrane;Midbody;Cytoskeleton Hermansky-Pudlak syndrome 7 Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3 function. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. Plays a role in the regulation of cell surface exposure of DRD2. May play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation. Appears to promote neuronal transmission and viability through regulating the expression of SNAP25 and SYN1, modulating PI3-kinase-Akt signaling and influencing glutamatergic release. Regulates the expression of SYN1 through binding to its promoter. Modulates prefrontal cortical activity via the dopamine/D2 pathway. Ubiquitinated by TRIM32. Ubiquitination leads to DTNBP1 degradation.;Isoforms 1 and 2 highly phosphorylated by PRKDC in vitro.;Only weakly phosphorylated by PRKDC in vitro. Belongs to the dysbindin family. Golgi Associated Vesicle Biogenesis PE1 6 +NX_Q96EW2 HSPB1-associated protein 1 488 55167 5.38 0 Cytoplasm;Mitochondrion NA May play a role in cellular stress response. NA NA NA PE1 3 +NX_Q96EX1 Small integral membrane protein 12 92 10799 8.01 1 Membrane;Mitochondrion NA NA NA Belongs to the SMIM12 family. NA PE1 1 +NX_Q96EX2 RING finger and transmembrane domain-containing protein 2 444 48965 8.08 4 Membrane;Nucleoplasm;Cytosol NA NA NA NA NA PE1 12 +NX_Q96EX3 WD repeat-containing protein 34 536 57801 6.16 0 Cytoplasm;Cytosol;Cilium axoneme;Cilium basal body Short-rib thoracic dysplasia 11 with or without polydactyly Critical for ciliary functions, essential to normal development and survival, most probably as a previously unrecognized component of the mammalian dynein-motor-based intraflagellar transport (IFT) machinery. Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Inhibits the MAP3K7-induced NF-kappa-B activation pathway. Inhibits MAP3K7 phosphorylation at 'Thr-184' and 'Thr-187' upon Il-1 beta stimulation. NA NA Intraflagellar transport PE1 9 +NX_Q96EY1 DnaJ homolog subfamily A member 3, mitochondrial 480 52489 9.37 0 Mitochondrion;Postsynaptic cell membrane;Mitochondrion matrix;Cytoplasmic vesicle;Cytosol NA Increases apoptosis triggered by both TNF and the DNA-damaging agent mytomycin C; in sharp contrast, isoform 2 suppresses apoptosis. Can modulate IFN-gamma-mediated transcriptional activity.;Modulates apoptotic signal transduction or effector structures within the mitochondrial matrix. Affect cytochrome C release from the mitochondria and caspase 3 activation, but not caspase 8 activation.;May play a role in neuromuscular junction development as an effector of the MUSK signaling pathway. Tyrosine phosphorylated. NA NA PE1 16 +NX_Q96EY4 Translation machinery-associated protein 16 203 23864 9.33 0 Nucleoplasm;Nucleolus NA NA NA Belongs to the UPF0534 family. NA PE1 4 +NX_Q96EY5 Multivesicular body subunit 12A 273 28783 9.1 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Endosome;Centrosome;Nucleus;Late endosome membrane NA Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in the ligand-mediated internalization and down-regulation of EGF receptor. Phosphorylated on Tyr-204 upon EGF stimulation. Phosphorylation is required for interaction with CD2AP and CIN85/SH3KBP1. Belongs to the MVB12 family. Endocytosis;Budding and maturation of HIV virion;Membrane binding and targetting of GAG proteins;Endosomal Sorting Complex Required For Transport (ESCRT);Microautophagy PE1 19 +NX_Q96EY7 Pentatricopeptide repeat domain-containing protein 3, mitochondrial 689 78550 6 0 Mitochondrion NA Mitochondrial RNA-binding protein that has a role in mitochondrial translation. NA Belongs to the mitochondrion-specific ribosomal protein mS39 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 2 +NX_Q96EY8 Corrinoid adenosyltransferase 250 27388 8.86 0 Mitochondrion Methylmalonic aciduria type cblB Adenosyltransferase involved in intracellular vitamin B12 metabolism. Generates adenosylcobalamin (AdoCbl) and directly delivers the cofactor to MUT in a transfer taht is stimulated by ATP-binding to MMAB and gated by MMAA. NA Belongs to the Cob(I)alamin adenosyltransferase family. Cofactor biosynthesis; adenosylcobalamin biosynthesis; adenosylcobalamin from cob(II)yrinate a,c-diamide: step 2/7.;Porphyrin and chlorophyll metabolism;Metabolic pathways;Cobalamin (Cbl, vitamin B12) transport and metabolism;Defective MMAB causes methylmalonic aciduria type cblB PE1 12 +NX_Q96EY9 Probable inactive tRNA-specific adenosine deaminase-like protein 3 351 38071 8.06 0 Nucleoplasm Mental retardation, autosomal recessive 36 NA NA Belongs to the cytidine and deoxycytidylate deaminase family. ADAT3 subfamily. tRNA modification in the nucleus and cytosol PE1 19 +NX_Q96EZ4 Myeloma-overexpressed gene protein 313 33556 9.21 0 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle NA NA NA NA NA PE2 11 +NX_Q96EZ8 Microspherule protein 1 462 51803 9.41 0 Nucleolus;Cytoplasm;Nucleoplasm;Nucleus NA Modulates the transcription repressor activity of DAXX by recruiting it to the nucleolus (PubMed:11948183). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues (PubMed:20018852). Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. May also be an inhibitor of TERT telomerase activity (PubMed:15044100). Binds to G-quadruplex structures in mRNA (PubMed:16571602). Binds to RNA homopolymer poly(G) and poly(U) (PubMed:16571602). NA NA Herpes simplex infection;HATs acetylate histones;DNA Damage Recognition in GG-NER;UCH proteinases PE1 12 +NX_Q96F05 Uncharacterized protein C11orf24 449 46101 5.59 1 Cytoplasmic vesicle;Nucleoplasm;trans-Golgi network membrane;Cell membrane NA NA NA NA NA PE1 11 +NX_Q96F07 Cytoplasmic FMR1-interacting protein 2 1278 148399 7.03 0 Cytoplasm;Cell membrane;Synaptosome;Endoplasmic reticulum;Cytosol;Perinuclear region;Nucleus Epileptic encephalopathy, early infantile, 65 Involved in T-cell adhesion and p53/TP53-dependent induction of apoptosis. Does not bind RNA. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity). NA Belongs to the CYFIP family. Regulation of actin cytoskeleton;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;VEGFA-VEGFR2 Pathway PE1 5 +NX_Q96F10 Diamine acetyltransferase 2 170 19155 5.77 0 Cytoplasm NA Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine > spermidine = spermine >> N(1)acetylspermine = putrescine. NA Belongs to the acetyltransferase family. Amine and polyamine degradation; putrescine degradation; N-acetylputrescine from putrescine: step 1/1.;Arginine and proline metabolism;Metabolic pathways PE1 17 +NX_Q96F15 GTPase IMAP family member 5 307 34846 7.6 1 Lysosome membrane;Multivesicular body membrane;Endosome membrane NA Plays a role in T lymphocyte development and the optimal generation of CD4/CD8 double-positive thymocytes (By similarity). Inhibitor of GSK3A, possibly by sequestering GSK3A in cytoplasmic vesicles and impairing its translocation to the nucleus. Consequently, impairs GSK3A-dependent transcriptional program and regulation of the DNA damage response occurring during T cells proliferation (PubMed:29382851). Required for the survival of peripheral T cells, natural killer (NK) and NK T-cell development and the maintenance of normal liver function (By similarity). May promote the survival of mature T lymphocytes upon cytokine withdrawal (By similarity). May regulate Ca(2+) homeostasis by modulating lysosomal Ca(2+) stores, preventing its accumulation in the absence of T cell activation (By similarity). May play a role in mitochondrial DNA segregation in hematopoietic tissues (By similarity). NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase family. IAN subfamily. NA PE1 7 +NX_Q96F24 Nuclear receptor-binding factor 2 287 32378 5.61 0 Cytoplasm;Nucleoplasm;Autophagosome;Cytoplasmic vesicle;Cytosol;Nucleus NA Involved in starvation-induced autophagy probably by its association with PI3K complex I (PI3KC3-C1). However, effects has been described variably. Involved in the induction of starvation-induced autophagy (PubMed:24785657). Stabilzes PI3KC3-C1 assembly and enhances ATG14-linked lipid kinase activity of PIK3C3 (By similarity). Proposed to negatively regulate basal and starvation-induced autophagy and to inhibit PIK3C3 activity by modulating interactions in PI3KC3-C1 (PubMed:25086043). May be involved in autophagosome biogenesis (PubMed:25086043). May play a role in neural progenitor cell survival during differentiation (By similarity).;May modulate transcriptional activation by target nuclear receptors. Can act as transcriptional activator (in vitro). NA NA Nuclear Receptor transcription pathway PE1 10 +NX_Q96F25 UDP-N-acetylglucosamine transferase subunit ALG14 homolog 216 24151 9.13 1 Nucleoplasm;Nucleolus;Endoplasmic reticulum membrane;Nucleus membrane Myasthenic syndrome, congenital, 15 May be involved in protein N-glycosylation. May play a role in the second step of the dolichol-linked oligosaccharide pathway. May anchor the catalytic subunit ALG13 to the ER. NA Belongs to the ALG14 family. N-Glycan biosynthesis;Metabolic pathways;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein;Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS) PE1 1 +NX_Q96F44 E3 ubiquitin-protein ligase TRIM11 468 52774 5.5 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA E3 ubiquitin-protein ligase that promotes the degradation of insoluble ubiquitinated proteins, including insoluble PAX6, poly-Gln repeat expanded HTT and poly-Ala repeat expanded ARX. Mediates PAX6 ubiquitination leading to proteasomal degradation, thereby modulating cortical neurogenesis. May also inhibit PAX6 transcriptional activity, possibly in part by preventing the binding of PAX6 to its consensus sequences. May contribute to the regulation of the intracellular level of HN (humanin) or HN-containing proteins through the proteasomal degradation pathway. Mediates MED15 ubiquitination leading to proteasomal degradation. May contribute to the innate restriction of retroviruses. Upon overexpression, reduces HIV-1 and murine leukemia virus infectivity, by suppressing viral gene expression. Antiviral activity depends on a functional E3 ubiquitin-protein ligase domain. May regulate TRIM5 turnover via the proteasome pathway, thus counteracting the TRIM5-mediated cross-species restriction of retroviral infection at early stages of the retroviral life cycle. NA Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 1 +NX_Q96F45 Zinc finger protein 503 646 62555 8.94 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA May function as a transcriptional repressor. NA Belongs to the Elbow/Noc family. NA PE1 10 +NX_Q96F46 Interleukin-17 receptor A 866 96122 5.06 1 Nucleoplasm;Cytosol;Secreted;Cell membrane Immunodeficiency 51 Receptor for IL17A (PubMed:17911633, PubMed:9367539). Receptor for IL17F (PubMed:19838198, PubMed:17911633). Binds to IL17A with higher affinity than to IL17F (PubMed:17911633). Binds IL17A and IL17F homodimers as part of a heterodimeric complex with IL17RC (PubMed:16785495). Also binds heterodimers formed by IL17A and IL17F as part of a heterodimeric complex with IL17RC (PubMed:18684971). Receptor for IL17C as part of a heterodimeric complex with IL17RE (PubMed:21993848). Activation of IL17RA leads to induction of expression of inflammatory chemokines and cytokines such as CXCL1, CXCL8/IL8 and IL6 (PubMed:16785495, PubMed:17911633, PubMed:18684971). Glycosylated. NA Cytokine-cytokine receptor interaction;Interleukin-17 signaling PE1 22 +NX_Q96F63 Coiled-coil domain-containing protein 97 343 38947 4.52 0 Nucleoplasm;Cytosol;Cell membrane NA NA NA NA NA PE1 19 +NX_Q96F81 Protein dispatched homolog 1 1524 170934 6.44 12 Membrane;Nucleus NA Functions in hedgehog (Hh) signaling. Regulates the release and extracellular accumulation of cholesterol-modified hedgehog proteins and is hence required for effective production of the Hh signal (By similarity). Synergizes with SCUBE2 to cause an increase in SHH secretion (PubMed:22902404). NA Belongs to the dispatched family. NA PE1 1 +NX_Q96F83 Uncharacterized protein CLBA1 325 35690 5.96 0 Nucleoplasm;Cytosol;Nucleus NA NA NA NA NA PE1 14 +NX_Q96F85 CB1 cannabinoid receptor-interacting protein 1 164 18648 7.72 0 Cytosol NA Suppresses cannabinoid receptor CNR1-mediated tonic inhibition of voltage-gated calcium channels.;Does not have this effect. NA Belongs to the CNRIP family. NA PE1 2 +NX_Q96F86 Enhancer of mRNA-decapping protein 3 508 56078 6.65 0 Cytosol;P-body Mental retardation, autosomal recessive 50 Binds single-stranded RNA. Involved in the process of mRNA degradation and in the positive regulation of mRNA decapping. May play a role in spermiogenesis and oogenesis. NA Belongs to the EDC3 family. mRNA decay by 5' to 3' exoribonuclease PE1 15 +NX_Q96FA3 E3 ubiquitin-protein ligase pellino homolog 1 418 46286 8.33 0 NA NA E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates 'Lys-63'-linked polyubiquitination of IRAK1 allowing subsequent NF-kappa-B activation (PubMed:12496252, PubMed:17675297). Mediates 'Lys-48'-linked polyubiquitination of RIPK3 leading to its subsequent proteasome-dependent degradation; preferentially recognizes and mediates the degradation of the 'Thr-182' phosphorylated form of RIPK3 (PubMed:29883609). Negatively regulates necroptosis by reducing RIPK3 expression (PubMed:29883609). Mediates 'Lys-63'-linked ubiquitination of RIPK1 (PubMed:29883609). Phosphorylation by IRAK1 and IRAK4 enhances its E3 ligase activity.;Sumoylated.;PELI1 is phosphorylated by IRAK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);PELI1 is phosphorylated by IRAK4 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the pellino family. Protein modification; protein ubiquitination.;IRAK1 recruits IKK complex;IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation;Interleukin-1 signaling PE1 2 +NX_Q96FA7 ZBED6 C-terminal-like protein 236 26352 7.05 0 Cytoplasmic vesicle;Nucleus membrane NA NA NA NA NA PE2 7 +NX_Q96FB5 Protein RRNAD1 475 52981 8.22 1 Membrane;Cytosol;Nucleolus NA NA NA Belongs to the RRNAD1 family. NA PE1 1 +NX_Q96FC7 Phytanoyl-CoA hydroxylase-interacting protein-like 376 42486 5.97 0 Cytoplasm;Cytosol;Mitochondrion NA May play a role in the development of the central system. NA Belongs to the PHYHIP family. NA PE1 10 +NX_Q96FC9 ATP-dependent DNA helicase DDX11 970 108313 7.07 0 Nucleolus;Chromosome;Midbody;Spindle pole;Centrosome;Nucleus Warsaw breakage syndrome (Microbial infection) Required for bovine papillomavirus type 1 regulatory protein E2 loading onto mitotic chromosomes during DNA replication for the viral genome to be maintained and segregated.;DNA-dependent ATPase and ATP-dependent DNA helicase that participates in various functions in genomic stability, including DNA replication, DNA repair and heterochromatin organization as well as in ribosomal RNA synthesis (PubMed:10648783, PubMed:21854770, PubMed:23797032, PubMed:26089203, PubMed:26503245). Its double-stranded DNA helicase activity requires either a minimal 5'-single-stranded tail length of approximately 15 nt (flap substrates) or 10 nt length single-stranded gapped DNA substrates of a partial duplex DNA structure for helicase loading and translocation along DNA in a 5' to 3' direction (PubMed:18499658, PubMed:22102414). The helicase activity is capable of displacing duplex regions up to 100 bp, which can be extended up to 500 bp by the replication protein A (RPA) or the cohesion CTF18-replication factor C (Ctf18-RFC) complex activities (PubMed:18499658). Shows also ATPase- and helicase activities on substrates that mimic key DNA intermediates of replication, repair and homologous recombination reactions, including forked duplex, anti-parallel G-quadruplex and three-stranded D-loop DNA molecules (PubMed:22102414, PubMed:26503245). Plays a role in DNA double-strand break (DSB) repair at the DNA replication fork during DNA replication recovery from DNA damage (PubMed:23797032). Recruited with TIMELESS factor upon DNA-replication stress response at DNA replication fork to preserve replication fork progression, and hence ensure DNA replication fidelity (PubMed:26503245). Cooperates also with TIMELESS factor during DNA replication to regulate proper sister chromatid cohesion and mitotic chromosome segregation (PubMed:17105772, PubMed:18499658, PubMed:20124417, PubMed:23116066, PubMed:23797032). Stimulates 5'-single-stranded DNA flap endonuclease activity of FEN1 in an ATP- and helicase-independent manner; and hence it may contribute in Okazaki fragment processing at DNA replication fork during lagging strand DNA synthesis (PubMed:18499658). Its ability to function at DNA replication fork is modulated by its binding to long non-coding RNA (lncRNA) cohesion regulator non-coding RNA DDX11-AS1/CONCR, which is able to increase both DDX11 ATPase activity and binding to DNA replicating regions (PubMed:27477908). Plays also a role in heterochromatin organization (PubMed:21854770). Involved in rRNA transcription activation through binding to active hypomethylated rDNA gene loci by recruiting UBTF and the RNA polymerase Pol I transcriptional machinery (PubMed:26089203). Plays a role in embryonic development and prevention of aneuploidy (By similarity). Involved in melanoma cell proliferation and survival (PubMed:23116066). Associates with chromatin at DNA replication fork regions (PubMed:27477908). Binds to single- and double-stranded DNAs (PubMed:9013641, PubMed:18499658, PubMed:22102414). NA Belongs to the DEAD box helicase family. DEAH subfamily. DDX11/CHL1 sub-subfamily. XBP1(S) activates chaperone genes PE1 12 +NX_Q96FE5 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 620 69876 8.86 1 Cell membrane Mental retardation, autosomal recessive 64 Functional component of the Nogo receptor signaling complex (RTN4R/NGFR) in RhoA activation responsible for some inhibition of axonal regeneration by myelin-associated factors (PubMed:14966521, PubMed:15694321). Is also an important negative regulator of oligodentrocyte differentiation and axonal myelination (PubMed:15895088). Acts in conjunction with RTN4 and RTN4R in regulating neuronal precursor cell motility during cortical development (By similarity). N-glycosylated. Contains predominantly high-mannose glycans. NA Axonal growth inhibition (RHOA activation) PE1 15 +NX_Q96FE7 Phosphoinositide-3-kinase-interacting protein 1 263 28248 4.92 1 Cell membrane NA Negative regulator of hepatic phosphatidylinositol 3-kinase (PI3K) activity. N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. N-glycan heterogeneity at Asn-66: dHex1Hex5HexNAc4 (major) and dHex1Hex6HexNAc5 (minor). NA NA PE1 22 +NX_Q96FF7 Uncharacterized protein MISP3 219 24028 10.92 0 NA NA NA NA Belongs to the MISP family. NA PE1 19 +NX_Q96FF9 Sororin 252 27601 9.65 0 Cytoplasm;Nucleoplasm;Nucleus;Chromosome NA Regulator of sister chromatid cohesion in mitosis stabilizing cohesin complex association with chromatin. May antagonize the action of WAPL which stimulates cohesin dissociation from chromatin. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. Required for efficient DNA double-stranded break repair. Ubiquitinated by the APC/C complex in G1, leading to its degradation.;Phosphorylated. Phosphorylation, as cells enter mitosis, disrupts the interaction with PDS5A and relieves the inhibition of WAPL by CDCA5. Belongs to the sororin family. Separation of Sister Chromatids;Establishment of Sister Chromatid Cohesion;Resolution of Sister Chromatid Cohesion PE1 11 +NX_Q96FG2 ELMO domain-containing protein 3 381 43046 8.11 0 Mitochondrion;Nucleoplasm;Kinocilium;Stereocilium;Cytoskeleton Deafness, autosomal recessive, 88 Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity. NA NA NA PE1 2 +NX_Q96FH0 BLOC-1-related complex subunit 8 119 13403 5.54 0 Nucleoplasm;Lysosome membrane;Cytoplasmic vesicle NA As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. NA Belongs to the BORCS8 family. NA PE1 19 +NX_Q96FI4 Endonuclease 8-like 1 390 43684 9.94 0 Nucleoplasm;Centrosome;Nucleus;Chromosome NA Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Acts as DNA glycosylase that recognizes and removes damaged bases. Has a preference for oxidized pyrimidines, such as thymine glycol, formamidopyrimidine (Fapy) and 5-hydroxyuracil. Has marginal activity towards 8-oxoguanine. Has AP (apurinic/apyrimidinic) lyase activity and introduces nicks in the DNA strand. Cleaves the DNA backbone by beta-delta elimination to generate a single-strand break at the site of the removed base with both 3'- and 5'-phosphates. Has DNA glycosylase/lyase activity towards mismatched uracil and thymine, in particular in U:C and T:C mismatches. Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC. NA Belongs to the FPG family. Base excision repair;APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Defective Base Excision Repair Associated with NEIL1 PE1 15 +NX_Q96FJ0 AMSH-like protease 436 49783 6.79 0 Cell membrane NA Zinc metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Does not cleave 'Lys-48'-linked polyubiquitin chains. NA Belongs to the peptidase M67C family. Metalloprotease DUBs PE1 10 +NX_Q96FJ2 Dynein light chain 2, cytoplasmic 89 10350 6.81 0 Cytoskeleton NA Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in changing or maintaining the spatial distribution of cytoskeletal structures (By similarity). NA Belongs to the dynein light chain family. Vasopressin-regulated water reabsorption;Separation of Sister Chromatids;Macroautophagy;MHC class II antigen presentation;Intraflagellar transport;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Activation of BMF and translocation to mitochondria;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 17 +NX_Q96FK6 WD repeat-containing protein 89 387 43215 5.72 0 Cytosol;Cytoskeleton NA NA NA NA NA PE1 14 +NX_Q96FL8 Multidrug and toxin extrusion protein 1 570 61922 7.53 13 Cell membrane NA Solute transporter for tetraethylammonium (TEA), 1-methyl-4-phenylpyridinium (MPP), cimetidine, N-methylnicotinamide (NMN), metformin, creatinine, guanidine, procainamide, topotecan, estrone sulfate, acyclovir, ganciclovir and also the zwitterionic cephalosporin, cephalexin and cephradin. Seems to also play a role in the uptake of oxaliplatin (a new platinum anticancer agent). Able to transport paraquat (PQ or N,N-dimethyl-4-4'-bipiridinium); a widely used herbicid. Responsible for the secretion of cationic drugs across the brush border membranes. NA Belongs to the multi antimicrobial extrusion (MATE) (TC 2.A.66.1) family. Transport of bile salts and organic acids, metal ions and amine compounds PE1 17 +NX_Q96FL9 Polypeptide N-acetylgalactosaminyltransferase 14 552 64321 7.84 1 Golgi apparatus;Nucleoplasm;Golgi apparatus membrane NA Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays activity toward mucin-derived peptide substrates such as Muc2, Muc5AC, Muc7, and Muc13 (-58). May be involved in O-glycosylation in kidney. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 2 +NX_Q96FM1 Post-GPI attachment to proteins factor 3 320 36475 6.84 7 Golgi apparatus membrane;Cytosol;Endoplasmic reticulum membrane;Cell membrane Hyperphosphatasia with mental retardation syndrome 4 Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchors proteins. Required for phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI (Probable). NA Belongs to the PGAP3 family. NA PE1 17 +NX_Q96FN4 Copine-2 548 61190 5.71 0 Cytoplasm;Mitochondrion;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes. Exhibits calcium-dependent cell membrane binding properties. NA Belongs to the copine family. NA PE1 16 +NX_Q96FN5 Kinesin-like protein KIF12 646 70660 9.19 0 Nucleoplasm;Cytoskeleton NA NA NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 9 +NX_Q96FN9 D-aminoacyl-tRNA deacylase 2 168 18660 7.71 0 Cytoplasm;Cytoplasmic vesicle NA Deacylates mischarged D-aminoacyl-tRNAs (By similarity). Probably acts by rejecting L-amino acids from its binding site rather than specific recognition of D-amino acids (By similarity). Catalyzes the hydrolysis of D-tyrosyl-tRNA(Tyr), has no activity on correctly charged L-tyrosyl-tRNA(Tyr) (By similarity). By recycling D-aminoacyl-tRNA to D-amino acids and free tRNA molecules, this enzyme counteracts the toxicity associated with the formation of D-aminoacyl-tRNA entities in vivo and helps enforce protein L-homochirality. In contrast to DTD1, deacylates L-Ala mischarged on tRNA(Thr)(G4.U69) by alanine-tRNA ligase AARS (PubMed:29410408). Can deacylate L-Ala due to a relaxed specificity for substrate chirality caused by the trans conformation of the Gly-Pro motif in the active site (PubMed:29410408). Also hydrolyzes correctly charged, achiral, glycyl-tRNA(Gly) in vitro, although in vivo EEF1A1/EF-Tu may protect cognate achiral glycyl-tRNA(Gly) from DTD2-mediated deacetylation (By similarity). NA Belongs to the DTD family. NA PE1 14 +NX_Q96FQ6 Protein S100-A16 103 11801 6.28 0 Cytoplasm;Cytosol;Nucleolus;Cell membrane NA Calcium-binding protein. Binds one calcium ion per monomer (PubMed:17030513). Can promote differentiation of adipocytes (in vitro) (By similarity). Overexpression in preadipocytes increases their proliferation, enhances adipogenesis and reduces insulin-stimulated glucose uptake (By similarity). NA Belongs to the S-100 family. NA PE1 1 +NX_Q96FQ7 Putative uncharacterized protein encoded by LINC00526 95 10201 7.81 0 NA NA NA NA NA NA PE5 18 +NX_Q96FS4 Signal-induced proliferation-associated protein 1 1042 112149 6.16 0 Golgi apparatus;Cell membrane;Endomembrane system;Nucleolus;Nucleoplasm;Perinuclear region;Nucleus NA GTPase activator for the nuclear Ras-related regulatory proteins Rap1 and Rap2 in vitro, converting them to the putatively inactive GDP-bound state (PubMed:9346962). Affects cell cycle progression (By similarity). NA NA Leukocyte transendothelial migration;Rap1 signalling PE1 11 +NX_Q96FT7 Acid-sensing ion channel 4 647 70105 8.04 2 Golgi apparatus;Cell membrane;Centriolar satellite;Membrane;Nucleoplasm NA Probable cation channel with high affinity for sodium. In vitro, has no proton-gated channel activity. NA Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC4 subfamily. Stimuli-sensing channels PE1 2 +NX_Q96FT9 Intraflagellar transport protein 43 homolog 208 23529 4.62 0 Centriolar satellite;Cilium;Cytoskeleton Cranioectodermal dysplasia 3;Short-rib thoracic dysplasia 18 with polydactyly;Retinitis pigmentosa 81 As a component of IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis (PubMed:28400947, PubMed:28973684). Involved in retrograde ciliary transport along microtubules from the ciliary tip to the base (PubMed:21378380). NA Belongs to the IFT43 family. Intraflagellar transport PE1 14 +NX_Q96FV0 Leucine-rich repeat-containing protein 46 321 35340 4.86 0 Cytosol NA NA NA NA NA PE1 17 +NX_Q96FV2 Secernin-2 425 46597 5.44 0 Golgi apparatus;Nucleoplasm NA NA NA Belongs to the peptidase C69 family. Secernin subfamily. NA PE1 17 +NX_Q96FV3 Tetraspanin-17 270 30264 4.96 4 Membrane;Nucleoplasm NA Regulates ADAM10 maturation. NA Belongs to the tetraspanin (TM4SF) family. NA PE1 5 +NX_Q96FV9 THO complex subunit 1 657 75666 4.92 0 Nucleoplasm;Nucleus matrix;Cytoplasm;Nucleus speckle NA Participates in an apoptotic pathway which is characterized by activation of caspase-6, increases in the expression of BAK1 and BCL2L1 and activation of NF-kappa-B. This pathway does not require p53/TP53, nor does the presence of p53/TP53 affect the efficiency of cell killing. Activates a G2/M cell cycle checkpoint prior to the onset of apoptosis. Apoptosis is inhibited by association with RB1.;Required for efficient export of polyadenylated RNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Regulates transcriptional elongation of a subset of genes. Involved in genome stability by preventing co-transcriptional R-loop formation. Expression is altered specifically during apoptosis and is accompanied by the appearance of novel forms with smaller apparent molecular mass.;Polyubiquitinated, leading to proteasomal degradation; probably involves NEDD4. NA RNA transport;Spliceosome;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 18 +NX_Q96FW1 Ubiquitin thioesterase OTUB1 271 31284 4.85 0 Nucleoplasm;Cytosol;Cytoplasm NA Plays a key non-catalytic role in DNA repair regulation by inhibiting activity of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites. Inhibits RNF168 independently of ubiquitin thioesterase activity by binding and inhibiting UBE2N/UBC13, the E2 partner of RNF168, thereby limiting spreading of 'Lys-63'-linked histone H2A and H2AX marks. Inhibition occurs by binding to free ubiquitin: free ubiquitin acts as an allosteric regulator that increases affinity for UBE2N/UBC13 and disrupts interaction with UBE2V1. The OTUB1-UBE2N/UBC13-free ubiquitin complex adopts a configuration that mimics a cleaved 'Lys48'-linked di-ubiquitin chain.;Hydrolase that can specifically remove 'Lys-48'-linked conjugated ubiquitin from proteins and plays an important regulatory role at the level of protein turnover by preventing degradation. Regulator of T-cell anergy, a phenomenon that occurs when T-cells are rendered unresponsive to antigen rechallenge and no longer respond to their cognate antigen. Acts via its interaction with RNF128/GRAIL, a crucial inductor of CD4 T-cell anergy.;Destabilizes RNF128, leading to prevent anergy. In contrast, isoform 2 stabilizes RNF128 and promotes anergy. Surprisingly, it regulates RNF128-mediated ubiquitination, but does not deubiquitinate polyubiquitinated RNF128. Deubiquitinates estrogen receptor alpha (ESR1). Mediates deubiquitination of 'Lys-48'-linked polyubiquitin chains, but not 'Lys-63'-linked polyubiquitin chains. Not able to cleave di-ubiquitin. Also capable of removing NEDD8 from NEDD8 conjugates, but with a much lower preference compared to 'Lys-48'-linked ubiquitin. NA Belongs to the peptidase C65 family. Ub-specific processing proteases;Ovarian tumor domain proteases PE1 11 +NX_Q96FX2 DPH3 homolog 82 9240 3.94 0 Cytoplasm;Nucleus NA Down-regulation increases extracellular release of proteoglycans, indicating a possible role in the secretion process. Stimulates binding of GNEFR to SEC5.;Essential for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in elongation factor 2 (EEF2) and which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta). NA Belongs to the DPH3 family. Protein modification; peptidyl-diphthamide biosynthesis.;Synthesis of diphthamide-EEF2 PE1 3 +NX_Q96FX7 tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61A 289 31382 6.89 0 Nucleus NA Catalytic subunit of tRNA (adenine-N(1)-)-methyltransferase, which catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in initiator methionyl-tRNA (PubMed:16043508). Catalytic subunit of mRNA N(1)-methyltransferase complex, which mediates methylation of adenosine residues at the N(1) position of a small subset of mRNAs: N(1) methylation takes place in tRNA T-loop-like structures of mRNAs and is only present at low stoichiometries (PubMed:29107537, PubMed:29072297). NA Belongs to the class I-like SAM-binding methyltransferase superfamily. TRM61 family. tRNA modification in the nucleus and cytosol PE1 14 +NX_Q96FX8 p53 apoptosis effector related to PMP-22 193 21386 6.68 4 Desmosome;Cell membrane NA Component of intercellular desmosome junctions. Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly. Plays a role as an effector in the TP53-dependent apoptotic pathway (By similarity). NA Belongs to the TMEM47 family. p53 signaling pathway;TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain;Formation of the cornified envelope PE1 6 +NX_Q96FZ2 Abasic site processing protein HMCES 354 40575 8.43 0 Nucleoplasm;Chromosome NA Sensor of abasic sites in single-stranded DNA (ssDNA) required to preserve genome integrity by promoting error-free repair of abasic sites (PubMed:30554877). Acts as an enzyme that recognizes and binds abasic sites in ssDNA at replication forks and chemically modifies the lesion by forming a covalent cross-link with DNA (PubMed:30554877). The HMCES DNA-protein cross-link is then degraded by the proteasome (PubMed:30554877). Promotes error-free repair of abasic sites by acting as a 'suicide' enzyme that is degraded, thereby protecting abasic sites from translesion synthesis (TLS) polymerases and endonucleases that are error-prone and would generate mutations and double-strand breaks (PubMed:30554877). Acts as a protease: mediates autocatalytic processing of its N-terminal methionine in order to expose the catalytic cysteine (By similarity). Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells (By similarity). May act as an endonuclease that specifically cleaves 5hmC-containing DNA; additional experiments are however required to confirm this activity in vivo (By similarity). Ubiquitinated; the covalent HMCES DNA-protein cross-link is ubiquitinated, leading to its degradation by the proteasome. Belongs to the SOS response-associated peptidase family. NA PE1 3 +NX_Q96FZ5 CKLF-like MARVEL transmembrane domain-containing protein 7 175 18834 8.23 4 Membrane;Cell membrane NA NA NA Belongs to the chemokine-like factor family. NA PE1 3 +NX_Q96FZ7 Charged multivesicular body protein 6 201 23485 5.28 0 Membrane;Endomembrane system;Late endosome membrane;Endosome membrane NA Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. In the ESCRT-III complex, it probably serves as an acceptor for the ESCRT-II complex on endosomal membranes. ISGylated in a CHMP5-dependent manner. Isgylation weakens its interaction with VPS4A. Belongs to the SNF7 family. Endocytosis;Macroautophagy;Budding and maturation of HIV virion;Endosomal Sorting Complex Required For Transport (ESCRT);Microautophagy PE1 17 +NX_Q96G01 Protein bicaudal D homolog 1 975 110750 5.6 0 Golgi apparatus;Cytoplasmic vesicle NA Regulates coat complex coatomer protein I (COPI)-independent Golgi-endoplasmic reticulum transport by recruiting the dynein-dynactin motor complex. NA Belongs to the BicD family. COPI-independent Golgi-to-ER retrograde traffic PE1 12 +NX_Q96G03 Phosphoglucomutase-2 612 68283 6.28 0 Cytoplasm;Cytoskeleton NA Catalyzes the conversion of the nucleoside breakdown products ribose-1-phosphate and deoxyribose-1-phosphate to the corresponding 5-phosphopentoses. May also catalyze the interconversion of glucose-1-phosphate and glucose-6-phosphate. Has low glucose 1,6-bisphosphate synthase activity. NA Belongs to the phosphohexose mutase family. Carbohydrate degradation; 2-deoxy-D-ribose 1-phosphate degradation; D-glyceraldehyde 3-phosphate and acetaldehyde from 2-deoxy-alpha-D-ribose 1-phosphate: step 1/2.;Glycolysis / Gluconeogenesis;Pentose phosphate pathway;Galactose metabolism;Purine metabolism;Starch and sucrose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Pentose phosphate pathway;Glycogen synthesis;Glycogen breakdown (glycogenolysis);Galactose catabolism;Neutrophil degranulation PE1 4 +NX_Q96G04 Protein-lysine N-methyltransferase EEF2KMT 330 36915 5.7 0 Cytoplasm NA Catalyzes the trimethylation of eukaryotic elongation factor 2 (EEF2) on 'Lys-525'. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. EEF2KMT family. Protein methylation PE1 16 +NX_Q96G21 U3 small nucleolar ribonucleoprotein protein IMP4 291 33757 9.49 0 Nucleolus NA Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing. NA NA Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 2 +NX_Q96G23 Ceramide synthase 2 380 44876 9.03 6 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus membrane NA Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward very-long (C22:0-C24:0) chain as acyl donor. Phosphorylated at the C-terminus by CK2, leading to increase the ceramide synthase activity.;Acetylated. Deacetylation by SIRT3 increases enzyme activity and promotes mitochondrial ceramide accumulation. NA Lipid metabolism; sphingolipid metabolism.;Sphingolipid de novo biosynthesis PE1 1 +NX_Q96G25 Mediator of RNA polymerase II transcription subunit 8 268 29080 6.92 0 Golgi apparatus;Nucleoplasm;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. May play a role as a target recruitment subunit in E3 ubiquitin-protein ligase complexes and thus in ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the Mediator complex subunit 8 family. Protein modification; protein ubiquitination.;Herpes simplex infection;Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 1 +NX_Q96G27 WW domain-binding protein 1 269 29140 5.61 0 Cytosol NA NA NA NA NA PE1 2 +NX_Q96G28 Cilia- and flagella-associated protein 36 342 39447 4.93 0 Cytoplasm;Nucleoplasm;Flagellum;Cytosol;Nucleus NA May act as an effector for ARL3. NA Belongs to the CFAP36 family. NA PE1 2 +NX_Q96G30 Melanocortin-2 receptor accessory protein 2 205 23548 4.92 1 Endoplasmic reticulum membrane;Cell membrane Obesity Modulator of melanocortin receptor 4 (MC4R), a receptor involved in energy homeostasis. Plays a central role in the control of energy homeostasis and body weight regulation by increasing ligand-sensitivity of MC4R and MC4R-mediated generation of cAMP (By similarity). May also act as a negative regulator of MC2R: competes with MRAP for binding to MC2R and impairs the binding of corticotropin (ACTH) to MC2R. May also regulate activity of other melanocortin receptors (MC1R, MC3R and MC5R); however, additional evidence is required in vivo. NA Belongs to the MRAP family. NA PE1 6 +NX_Q96G42 Kelch domain-containing protein 7B 594 63314 9.25 0 Cell membrane NA NA NA NA NA PE1 22 +NX_Q96G46 tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like 650 72594 8.4 0 Nucleoplasm;Cytosol NA Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs. NA Belongs to the Dus family. Dus3 subfamily. NA PE1 19 +NX_Q96G61 Diphosphoinositol polyphosphate phosphohydrolase 3-beta 164 18559 5.73 0 Cytoplasm;Nucleus NA Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able to hydrolyze 5-phosphoribose 1-diphosphate. NA Belongs to the Nudix hydrolase family. DIPP subfamily. Synthesis of pyrophosphates in the cytosol PE1 X +NX_Q96G74 OTU domain-containing protein 5 571 60626 6.1 0 Nucleoplasm;Cytosol;Nucleolus NA Deubiquitinating enzyme that functions as negative regulator of the innate immune system. Acts via TRAF3 deubiquitination and subsequent suppression of type I interferon (IFN) production. Has peptidase activity towards 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Can also cleave 'Lys-11'-linked ubiquitin chains (in vitro). Phosphorylation at Ser-177 is required for deubiquitinating activity. Belongs to the peptidase C85 family. RIG-I-like receptor signaling pathway;Negative regulators of DDX58/IFIH1 signaling;Ovarian tumor domain proteases PE1 X +NX_Q96G75 E3 ubiquitin-protein transferase RMND5B 393 44414 6.15 0 Nucleoplasm;Cytosol NA Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). Catalytic activity of the complex is required for normal cell proliferation (PubMed:29911972). The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 (PubMed:29911972). NA NA NA PE1 5 +NX_Q96G79 Probable UDP-sugar transporter protein SLC35A4 324 34593 9.77 9 Nucleoplasm;Golgi apparatus membrane NA NA NA Belongs to the nucleotide-sugar transporter family. SLC35A subfamily. NA PE2 5 +NX_Q96G91 P2Y purinoceptor 11 374 40345 9.35 7 Cell membrane NA Receptor for ATP and ADP coupled to G-proteins that activate both phosphatidylinositol-calcium and adenylyl cyclase second messenger systems. Not activated by UTP or UDP. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (q) signalling events;G alpha (s) signalling events;P2Y receptors PE1 19 +NX_Q96G97 Seipin 398 44392 5.07 2 Endoplasmic reticulum membrane Congenital generalized lipodystrophy 2;Encephalopathy, progressive, with or without lipodystrophy;Neuronopathy, distal hereditary motor, 5A;Spastic paraplegia 17, autosomal dominant Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the central regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid droplets maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopic lipid droplet formation in non-adipose tissues. NA Belongs to the seipin family. NA PE1 11 +NX_Q96GA3 Protein LTV1 homolog 475 54855 4.8 0 Nucleoplasm;Cytosol NA NA NA Belongs to the LTV1 family. Major pathway of rRNA processing in the nucleolus and cytosol PE1 6 +NX_Q96GA7 Serine dehydratase-like 329 34674 6.41 0 Cytosol NA Has low serine dehydratase and threonine dehydratase activity. NA Belongs to the serine/threonine dehydratase family. Threonine catabolism PE1 12 +NX_Q96GC5 39S ribosomal protein L48, mitochondrial 212 23935 9.04 0 Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mL48 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 11 +NX_Q96GC6 Neurotrophin receptor-interacting factor homolog 653 74177 6.3 0 Nucleoplasm;Cytoplasm;Centrosome;Nucleolus NA Probable transcription repressor. Specifically binds to the 3'-end of zinc-finger coding genes and recruiting chromatin-modifying proteins such as SETDB1 and TRIM28/KAP1, leading to transcription repression. The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions (PubMed:27029610). NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q96GC9 Vacuole membrane protein 1 406 46238 6.47 7 Golgi apparatus;Cytoplasm;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cell membrane;Vacuole membrane;Nucleolus;Endoplasmic reticulum NA Stress-induced protein that, when overexpressed, promotes formation of intracellular vacuoles followed by cell death. May be involved in the cytoplasmic vacuolization of acinar cells during the early stage of acute pancreatitis. Plays a role in the initial stages of the autophagic process through its interaction with BECN1 (By similarity). Involved in cell-cell adhesion. Plays an essential role in formation of cell junctions (PubMed:17724469). Required for autophagosome formation (PubMed:30093494). NA Belongs to the VMP1 family. NA PE1 17 +NX_Q96GD0 Pyridoxal phosphate phosphatase 296 31698 6.12 0 Cell membrane;Lamellipodium membrane;Ruffle membrane;Cytosol;Cytoskeleton NA Protein serine phosphatase that dephosphorylates 'Ser-3' in cofilin and probably also dephosphorylates phospho-serine residues in DSTN. Regulates cofilin-dependent actin cytoskeleton reorganization. Required for normal progress through mitosis and normal cytokinesis. Does not dephosphorylate phospho-threonines in LIMK1. Does not dephosphorylate peptides containing phospho-tyrosine (PubMed:15580268). Pyridoxal phosphate (PLP) phosphatase, which also catalyzes the dephosphorylation of pyridoxine 5'-phosphate (PNP) and pyridoxamine 5'-phosphate (PMP), with order of substrate preference PLP > PNP > PMP (PubMed:14522954). NA Belongs to the HAD-like hydrolase superfamily. Vitamin B6 metabolism;Metabolic pathways PE1 22 +NX_Q96GD3 Polycomb protein SCMH1 660 73354 9.37 0 Nucleoplasm;Cytosol;Nucleus NA Associates with Polycomb group (PcG) multiprotein complexes; the complex class is required to maintain the transcriptionally repressive state of some genes. NA Belongs to the SCM family. SUMOylation of DNA damage response and repair proteins;Oxidative Stress Induced Senescence;SUMOylation of RNA binding proteins;SUMOylation of chromatin organization proteins;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known;Regulation of PTEN gene transcription;SUMOylation of transcription cofactors;SUMOylation of DNA methylation proteins PE1 1 +NX_Q96GD4 Aurora kinase B 344 39311 9.36 0 Chromosome;Midbody;Centromere;Nucleoplasm;Spindle;Nucleus NA Serine/threonine-protein kinase component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Involved in the bipolar attachment of spindle microtubules to kinetochores and is a key regulator for the onset of cytokinesis during mitosis. Required for central/midzone spindle assembly and cleavage furrow formation. Key component of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage: phosphorylates CHMP4C, leading to retain abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis (PubMed:22422861, PubMed:24814515). AURKB phosphorylates the CPC complex subunits BIRC5/survivin, CDCA8/borealin and INCENP. Phosphorylation of INCENP leads to increased AURKB activity. Other known AURKB substrates involved in centromeric functions and mitosis are CENPA, DES/desmin, GPAF, KIF2C, NSUN2, RACGAP1, SEPTIN1, VIM/vimentin, HASPIN, and histone H3. A positive feedback loop involving HASPIN and AURKB contributes to localization of CPC to centromeres. Phosphorylation of VIM controls vimentin filament segregation in cytokinetic process, whereas histone H3 is phosphorylated at 'Ser-10' and 'Ser-28' during mitosis (H3S10ph and H3S28ph, respectively). A positive feedback between HASPIN and AURKB contributes to CPC localization. AURKB is also required for kinetochore localization of BUB1 and SGO1. Phosphorylation of p53/TP53 negatively regulates its transcriptional activity. Key regulator of active promoters in resting B- and T-lymphocytes: acts by mediating phosphorylation of H3S28ph at active promoters in resting B-cells, inhibiting RNF2/RING1B-mediated ubiquitination of histone H2A and enhancing binding and activity of the USP16 deubiquitinase at transcribed genes. The phosphorylation of Thr-232 requires the binding to INCENP and occurs by means of an autophosphorylation mechanism. Thr-232 phosphorylation is indispensable for the AURKB kinase activity.;Ubiquitinated by different BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complexes. Ubiquitinated by the BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex, ubiquitination leads to removal from mitotic chromosomes and is required for cytokinesis. During anaphase, the BCR(KLHL21) E3 ubiquitin ligase complex recruits the CPC complex from chromosomes to the spindle midzone and mediates the ubiquitination of AURKB. Ubiquitination of AURKB by BCR(KLHL21) E3 ubiquitin ligase complex may not lead to its degradation by the proteasome.;AURKB is phosphorylated by CHEK1;AURKB is phosphorylated by LATS1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Aurora subfamily. APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;SUMOylation of DNA replication proteins;Regulation of TP53 Activity through Phosphorylation;Regulation of MECP2 expression and activity PE1 17 +NX_Q96GE4 Centrosomal protein of 95 kDa 821 95297 8.76 0 Nucleoplasm;Spindle pole;Centrosome;Cytoplasmic vesicle;Spindle NA NA NA NA NA PE1 17 +NX_Q96GE5 Zinc finger protein 799 643 74288 9.29 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q96GE6 Calmodulin-like protein 4 196 21883 7.02 0 Golgi apparatus;Nucleoplasm;Cytosol NA NA NA Belongs to the calmodulin family. NA PE1 15 +NX_Q96GE9 Distal membrane-arm assembly complex protein 1 116 12257 9.8 2 Mitochondrion inner membrane NA Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I. NA NA NA PE1 9 +NX_Q96GF1 E3 ubiquitin-protein ligase RNF185 192 20459 6.09 2 Mitochondrion outer membrane;Endoplasmic reticulum membrane NA E3 ubiquitin-protein ligase that regulates selective mitochondrial autophagy by mediating 'Lys-63'-linked polyubiquitination of BNIP1 (PubMed:21931693). Acts in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which targets misfolded proteins that accumulate in the endoplasmic reticulum (ER) for ubiquitination and subsequent proteasome-mediated degradation (PubMed:27485036). Protects cells from ER stress-induced apoptosis (PubMed:27485036). Responsible for the cotranslational ubiquitination and degradation of CFTR in the ERAD pathway (PubMed:24019521). Preferentially associates with the E2 enzymes UBE2J1 and UBE2J2 (PubMed:24019521). NA NA Protein modification; protein ubiquitination.;ER Quality Control Compartment (ERQC);ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis PE1 22 +NX_Q96GG9 DCN1-like protein 1 259 30124 5.18 0 Nucleoplasm;Cytosol;Nucleus NA Part of an E3 ubiquitin ligase complex for neddylation. Promotes neddylation of cullin components of E3 cullin-RING ubiquitin ligase complexes. Acts by binding to cullin-RBX1 complexes in the cytoplasm and promoting their nuclear translocation, enhancing recruitment of E2-NEDD8 (UBE2M-NEDD8) thioester to the complex, and optimizing the orientation of proteins in the complex to allow efficient transfer of NEDD8 from the E2 to the cullin substrates. Involved in the release of inhibitory effets of CAND1 on cullin-RING ligase E3 complex assembly and activity (PubMed:25349211, PubMed:28581483). Acts also as an oncogene facilitating malignant transformation and carcinogenic progression (By similarity). NA NA Neddylation PE1 3 +NX_Q96GI7 Protein FAM89A 184 19569 5.64 0 Golgi apparatus;Cytoplasmic vesicle;Nucleoplasm NA NA NA Belongs to the FAM89 family. NA PE1 1 +NX_Q96GJ1 tRNA (uracil(54)-C(5))-methyltransferase homolog 504 56476 9.04 0 Nucleoplasm;Nucleus NA Probable S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of 5-methyl-uridine at position 54 (m5U54) in all tRNA. May also have a role in tRNA stabilization or maturation (By similarity). NA Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA M5U methyltransferase family. NA PE1 X +NX_Q96GK7 Fumarylacetoacetate hydrolase domain-containing protein 2A 314 34596 8.48 0 NA NA May have hydrolase activity. NA Belongs to the FAH family. NA PE1 2 +NX_Q96GL9 Protein FAM163A 167 17641 5.56 1 Membrane NA NA NA Belongs to the FAM163 family. NA PE1 1 +NX_Q96GM1 Phospholipid phosphatase-related protein type 2 343 36880 9.64 6 Membrane;Nucleoplasm NA NA NA Belongs to the PA-phosphatase related phosphoesterase family. Lysosphingolipid and LPA receptors PE1 19 +NX_Q96GM5 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 515 58233 9.31 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:8804307, PubMed:29374058). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Has a strong influence on vitamin D-mediated transcriptional activity from an enhancer vitamin D receptor element (VDRE). May be a link between mammalian SWI-SNF-like chromatin remodeling complexes and the vitamin D receptor (VDR) heterodimer (PubMed:14698202). Mediates critical interactions between nuclear receptors and the BRG1/SMARCA4 chromatin-remodeling complex for transactivation (PubMed:12917342). NA Belongs to the SMARCD family. RMTs methylate histone arginines;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known PE1 12 +NX_Q96GM8 Target of EGR1 protein 1 510 56548 6.76 0 Nucleoplasm;Nucleus;Nucleus speckle;Nucleolus Pontocerebellar hypoplasia 7 Inhibits cell growth rate and cell cycle. Induces CDKN1A expression as well as TGF-beta expression. Mediates the inhibitory growth effect of EGR1. Involved in the maturation of snRNAs and snRNA 3'-tail processing (PubMed:28092684). NA Belongs to the CAF1 family. NA PE1 1 +NX_Q96GN5 Cell division cycle-associated 7-like protein 454 52206 5.59 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Plays a role in transcriptional regulation as a repressor that inhibits monoamine oxidase A (MAOA) activity and gene expression by binding to the promoter. Plays an important oncogenic role in mediating the full transforming effect of MYC in medulloblastoma cells. Involved in apoptotic signaling pathways; May act downstream of P38-kinase and BCL-2, but upstream of CASP3/caspase-3 as well as CCND1/cyclin D1 and E2F1. NA NA NA PE1 7 +NX_Q96GP6 Scavenger receptor class F member 2 871 92384 8.77 1 Membrane;Nucleoplasm;Cytosol;Nucleus Van den Ende-Gupta syndrome Probable adhesion protein, which mediates homophilic and heterophilic interactions. In contrast to SCARF1, it poorly mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL) (By similarity). NA NA NA PE1 22 +NX_Q96GQ5 RUS1 family protein C16orf58 468 51018 6.47 1 Golgi apparatus;Nucleolus;Membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA NA NA Belongs to the RUS1 family. NA PE1 16 +NX_Q96GQ7 Probable ATP-dependent RNA helicase DDX27 796 89835 9.33 0 Nucleolus;Chromosome NA Probable ATP-dependent RNA helicase. Component of the nucleolar ribosomal RNA (rRNA) processing machinery that regulates 3' end formation of ribosomal 47S rRNA (PubMed:25825154). NA Belongs to the DEAD box helicase family. DDX27/DRS1 subfamily. NA PE1 20 +NX_Q96GR2 Long-chain-fatty-acid--CoA ligase ACSBG1 724 81290 5.73 0 Cytoplasm;Microsome;Cell membrane;Endoplasmic reticulum;Cytoplasmic vesicle NA Catalyzes the conversion of fatty acids such as long-chain and very long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:12975357, PubMed:24269233, PubMed:10954726). Can activate diverse saturated, monosaturated and polyunsaturated fatty acids (PubMed:10954726). NA Belongs to the ATP-dependent AMP-binding enzyme family. Bubblegum subfamily. Fatty acid metabolism;Metabolic pathways;PPAR signaling pathway;Adipocytokine signaling pathway;Synthesis of very long-chain fatty acyl-CoAs PE1 15 +NX_Q96GR4 Probable palmitoyltransferase ZDHHC12 267 30813 6.75 4 Membrane;Nucleoplasm;Cytoskeleton NA NA NA Belongs to the DHHC palmitoyltransferase family. NA PE1 9 +NX_Q96GS4 BLOC-1-related complex subunit 6 357 37226 5.56 0 Cytosol;Lysosome membrane;Centrosome NA As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. NA Belongs to the BORCS6 family. NA PE1 17 +NX_Q96GS6 Alpha/beta hydrolase domain-containing protein 17A 310 33990 6.39 0 Dendritic spine;Endosome membrane;Cell membrane;Postsynaptic density;Cytoplasmic vesicle NA Hydrolyzes fatty acids from S-acylated cysteine residues in proteins (PubMed:26701913). Has depalmitoylating activity towards NRAS (PubMed:26701913). Has depalmitoylating activity towards DLG4/PSD95 (PubMed:26701913). May have depalmitoylating activity towards MAP6 (By similarity). Palmitoylated on cysteine residues located in a cysteine cluster at the N-terminus which promotes membrane localization (PubMed:26701913). Palmitoylation is required for post-synaptic localization and for depalmitoylating activity towards DLG4/PSD95 (By similarity). Belongs to the AB hydrolase superfamily. ABHD17 family. NA PE1 19 +NX_Q96GT9 X antigen family member 2 111 12354 5.12 0 NA NA NA NA Belongs to the GAGE family. NA PE1 X +NX_Q96GU1 P antigen family member 5 130 14046 4.27 0 Mitochondrion NA NA NA Belongs to the GAGE family. NA PE1 X +NX_Q96GV9 UNC119-binding protein C5orf30 206 23083 9.51 0 Cytoplasm;Cilium NA Probably plays a role in trafficking of proteins via its interaction with UNC119 and UNC119B cargo adapters: may help the release of UNC119 and UNC119B cargo or the recycling of UNC119 and UNC119B (PubMed:22085962). May play a role in ciliary membrane localization via its interaction with UNC119B and protein transport into photoreceptor cells (PubMed:22085962). NA Belongs to the UNC119-binding protein family. NA PE1 5 +NX_Q96GW7 Brevican core protein 911 99118 4.57 0 Membrane;Extracellular matrix NA May play a role in the terminally differentiating and the adult nervous system during postnatal development. Could stabilize interactions between hyaluronan (HA) and brain proteoglycans. Contains mostly chondroitin sulfate (By similarity). O-glycosylated with a core 1 or possibly core 8 glycan. Belongs to the aggrecan/versican proteoglycan family. Degradation of the extracellular matrix;Chondroitin sulfate biosynthesis;A tetrasaccharide linker sequence is required for GAG synthesis;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;ECM proteoglycans;Dermatan sulfate biosynthesis;CS/DS degradation;Defective CHST3 causes SEDCJD;Defective CHST14 causes EDS, musculocontractural type;Defective CHSY1 causes TPBS;Defective B3GALT6 causes EDSP2 and SEMDJL1 PE1 1 +NX_Q96GW9 Methionine--tRNA ligase, mitochondrial 593 66591 8.38 0 Mitochondrion matrix Combined oxidative phosphorylation deficiency 25;Spastic ataxia 3, autosomal recessive NA NA Belongs to the class-I aminoacyl-tRNA synthetase family. Selenocompound metabolism;Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation PE1 2 +NX_Q96GX1 Tectonic-2 697 76871 5.09 1 Golgi apparatus;Cytoplasmic vesicle;Membrane;Cilium basal body Joubert syndrome 24;Meckel syndrome 8 Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for hedgehog signaling transduction (By similarity). NA Belongs to the tectonic family. Anchoring of the basal body to the plasma membrane PE1 12 +NX_Q96GX2 Ataxin-7-like protein 3B 97 10771 4.27 0 Nucleoplasm;Cytoplasm NA By binding to ENY2, interferes with the nuclear functions of the deubiquitinase (DUB) module of the SAGA complex which consists of ENY2, ATXN7, ATXN7L3 and the histone deubiquitinating component USP22. Affects USP22 DUB activity toward histones indirectly by changing the subcellular distribution of ENY2 and altering ENY2 availability for ATXN7L3 interaction. Regulates H2B monoubiquitination (H2Bub1) levels through cytoplasmic sequestration of ENY2 resulting in loss of nuclear ENY2-ATXN7L3 association which destabilizes ATXN7L3. Affects protein expression levels of ENY2 and ATXN7L3. NA Belongs to the SGF11 family. NA PE1 12 +NX_Q96GX5 Serine/threonine-protein kinase greatwall 879 97319 5.67 0 Nucleoplasm;Centrosome;Cleavage furrow;Nucleus NA Serine/threonine kinase that plays a key role in M phase by acting as a regulator of mitosis entry and maintenance. Acts by promoting the inactivation of protein phosphatase 2A (PP2A) during M phase: does not directly inhibit PP2A but acts by mediating phosphorylation and subsequent activation of ARPP19 and ENSA at 'Ser-62' and 'Ser-67', respectively. ARPP19 and ENSA are phosphatase inhibitors that specifically inhibit the PPP2R2D (PR55-delta) subunit of PP2A. Inactivation of PP2A during M phase is essential to keep cyclin-B1-CDK1 activity high. Following DNA damage, it is also involved in checkpoint recovery by being inhibited. Phosphorylates histone protein in vitro; however such activity is unsure in vivo. May be involved in megakaryocyte differentiation. Phosphorylation at Thr-741 by CDK1 during M phase activates its kinase activity (By similarity). Maximum phosphorylation occurs in prometaphase. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. MASTL Facilitates Mitotic Progression PE1 10 +NX_Q96GX8 Uncharacterized protein C16orf74 76 8118 4.13 0 Centrosome;Cell membrane NA NA NA NA NA PE1 16 +NX_Q96GX9 Methylthioribulose-1-phosphate dehydratase 242 27125 6.7 0 Cytoplasm;Nucleoplasm;Cytosol NA Catalyzes the dehydration of methylthioribulose-1-phosphate (MTRu-1-P) into 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P). Functions in the methionine salvage pathway, which plays a key role in cancer, apoptosis, microbial proliferation and inflammation. May inhibit the CASP1-related inflammatory response (pyroptosis), the CASP9-dependent apoptotic pathway and the cytochrome c-dependent and APAF1-mediated cell death. NA Belongs to the aldolase class II family. MtnB subfamily. Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; L-methionine from S-methyl-5-thio-alpha-D-ribose 1-phosphate: step 2/6.;Cysteine and methionine metabolism;Metabolic pathways;Methionine salvage pathway;Formation of apoptosome;Regulation of the apoptosome activity PE1 11 +NX_Q96GY0 Zinc finger C2HC domain-containing protein 1A 325 35092 9.86 0 Cytosol;Cytoskeleton NA NA NA Belongs to the ZC2HC1 family. NA PE1 8 +NX_Q96GY3 Protein lin-37 homolog 246 28383 8.93 0 Nucleoplasm NA NA NA NA G0 and Early G1;G1/S-Specific Transcription;Polo-like kinase mediated events;Cyclin E associated events during G1/S transition;Cyclin A:Cdk2-associated events at S phase entry;Transcription of E2F targets under negative control by DREAM complex;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1 PE1 19 +NX_Q96GZ6 Solute carrier family 41 member 3 507 54767 7.97 10 Endoplasmic reticulum;Cell membrane NA NA NA Belongs to the SLC41A transporter family. NA PE1 3 +NX_Q96H12 Myb/SANT-like DNA-binding domain-containing protein 3 275 32363 8.58 0 Cytoplasm;Nucleoplasm NA NA NA Belongs to the MSANTD3 family. NA PE1 9 +NX_Q96H15 T-cell immunoglobulin and mucin domain-containing protein 4 378 41578 5.75 1 Membrane NA Phosphatidylserine receptor that enhances the engulfment of apoptotic cells. Involved in regulating T-cell proliferation and lymphotoxin signaling. Ligand for HAVCR1/TIMD1 (By similarity). NA Belongs to the immunoglobulin superfamily. TIM family. NA PE1 5 +NX_Q96H20 Vacuolar-sorting protein SNF8 258 28864 6.2 0 Cytoplasm;Endosome membrane;Late endosome membrane;Nucleoplasm;Cytosol;Nucleus NA Component of the endosomal sorting complex required for transport II (ESCRT-II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation by participating in derepression of transcription by RNA polymerase II, possibly via its interaction with ELL. Required for degradation of both endocytosed EGF and EGFR, but not for the EGFR ligand-mediated internalization. It is also required for the degradation of CXCR4. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). NA Belongs to the SNF8 family. Endocytosis;Endosomal Sorting Complex Required For Transport (ESCRT) PE1 17 +NX_Q96H22 Centromere protein N 339 39555 9.18 0 Kinetochore;Nucleoplasm;Nucleus NA Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. CENPN is the first protein to bind specifically to CENPA nucleosomes and the direct binding of CENPA nucleosomes by CENPN is required for centromere assembly. Required for chromosome congression and efficiently align the chromosomes on a metaphase plate. NA Belongs to the CENP-N/CHL4 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Deposition of new CENPA-containing nucleosomes at the centromere;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 16 +NX_Q96H35 Probable RNA-binding protein 18 190 21649 9.46 0 Midbody;Nucleoplasm;Cytosol;Nucleolus NA NA NA NA NA PE1 9 +NX_Q96H40 Zinc finger protein 486 463 53631 9.27 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q96H55 Unconventional myosin-XIX 970 109135 7.87 0 Mitochondrion outer membrane;Cytosol;Mitochondrion;Cytoskeleton NA Actin-based motor molecule with ATPase activity that localizes to the mitochondrion outer membrane (PubMed:19932026, PubMed:23568824, PubMed:25447992). Motor protein that moves towards the plus-end of actin filaments (By similarity). Required for mitochondrial inheritance during mitosis (PubMed:25447992). May be involved in mitochondrial transport or positioning (PubMed:23568824). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. NA PE1 17 +NX_Q96H72 Zinc transporter ZIP13 371 39011 5.21 8 Golgi apparatus membrane Ehlers-Danlos syndrome, spondylodysplastic type, 3 Acts as a zinc-influx transporter. NA Belongs to the ZIP transporter (TC 2.A.5) family. NA PE1 11 +NX_Q96H78 Solute carrier family 25 member 44 314 35392 9.64 6 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion NA NA NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 1 +NX_Q96H79 Zinc finger CCCH-type antiviral protein 1-like 300 32962 8.5 0 Cytosol NA NA NA NA NA PE1 7 +NX_Q96H86 Zinc finger protein 764 408 44943 9.19 0 Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_Q96H96 4-hydroxybenzoate polyprenyltransferase, mitochondrial 371 40489 9.27 9 Cytosol;Mitochondrion inner membrane Coenzyme Q10 deficiency, primary, 1;Multiple system atrophy 1 Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB, generating the first membrane-bound Q intermediate. NA Belongs to the UbiA prenyltransferase family. Cofactor biosynthesis; ubiquinone biosynthesis.;Ubiquinone and other terpenoid-quinone biosynthesis;Metabolic pathways;Mitochondrial protein import;Ubiquinol biosynthesis PE1 4 +NX_Q96HA1 Nuclear envelope pore membrane protein POM 121 1249 127720 10.58 1 Endoplasmic reticulum membrane;Nucleus membrane;Nuclear pore complex NA Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL). NA Belongs to the POM121 family. RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 7 +NX_Q96HA4 Uncharacterized protein C1orf159 380 40283 10.07 1 Membrane NA NA NA NA NA PE1 1 +NX_Q96HA7 Tonsoku-like protein 1378 150929 5.99 0 Cytoplasm;Nucleoplasm;Nucleus NA Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork-associated double-strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA. Within the complex, may act as a scaffold. NA Belongs to the Tonsoku family. NA PE1 8 +NX_Q96HA8 Protein N-terminal glutamine amidohydrolase 205 23680 5.46 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA Mediates the side-chain deamidation of N-terminal glutamine residues to glutamate, an important step in N-end rule pathway of protein degradation. Conversion of the resulting N-terminal glutamine to glutamate renders the protein susceptible to arginylation, polyubiquitination and degradation as specified by the N-end rule. Does not act on substrates with internal or C-terminal glutamine and does not act on non-glutamine residues in any position. Does not deaminate acetylated N-terminal glutamine. With the exception of proline, all tested second-position residues on substrate peptides do not greatly influence the activity. In contrast, a proline at position 2, virtually abolishes deamidation of N-terminal glutamine. NA Belongs to the NTAQ1 family. NA PE1 8 +NX_Q96HA9 Peroxisomal membrane protein 11C 241 26636 9.35 2 Peroxisome membrane NA Promotes membrane protrusion and elongation on the peroxisomal surface. NA Belongs to the peroxin-11 family. Peroxisome PE1 19 +NX_Q96HB5 Coiled-coil domain-containing protein 120 630 67567 9.51 0 Cytoplasm;Mitochondrion;Centriole;Growth cone;Endosome;Neuron projection NA Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC68, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly (PubMed:28422092). Recruits NIN and CEP170 to centrosomes (PubMed:28422092). Also required for neurite growth. Localizes CYTH2 to vesicles to allow its transport along neurites, and subsequent ARF6 activation and neurite growth. Ubiquitinated; interaction with CYTH2 may prevent ubiquitination. NA NA PE1 X +NX_Q96HC4 PDZ and LIM domain protein 5 596 63945 8.55 0 Cell membrane;Focal adhesion;Postsynapse;Nucleoplasm;Presynapse;Postsynaptic density;Cytosol NA May play an important role in the heart development by scaffolding PKC to the Z-disk region. May play a role in the regulation of cardiomyocyte expansion. Overexpression promotes the development of heart hypertrophy. Contributes to the regulation of dendritic spine morphogenesis in neurons. May restrain postsynaptic growth of excitatory synapses (By similarity). NA NA Neurexins and neuroligins PE1 4 +NX_Q96HD1 Protein disulfide isomerase CRELD1 420 45440 4.81 2 Golgi apparatus;Nucleolus;Membrane;Endoplasmic reticulum;Cytosol Atrioventricular septal defect 2 Protein disulfide isomerase (By similarity). Promotes the localization of acetylcholine receptors (AChRs) to the plasma membrane (By similarity). NA Belongs to the CRELD family. NA PE1 3 +NX_Q96HD9 N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming) 319 35241 5.57 0 Cytoplasm;Apical cell membrane NA Plays an important role in deacetylating mercapturic acids in kidney proximal tubules. Also acts on N-acetyl-aromatic amino acids (By similarity). NA Belongs to the AspA/AstE family. Aspartoacylase subfamily. Alanine, aspartate and glutamate metabolism;Histidine metabolism;Aflatoxin activation and detoxification PE1 11 +NX_Q96HE7 ERO1-like protein alpha 468 54393 5.48 0 Endoplasmic reticulum membrane NA Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. Required for the proper folding of immunoglobulins. Involved in the release of the unfolded cholera toxin from reduced P4HB/PDI in case of infection by V.cholerae, thereby playing a role in retrotranslocation of the toxin. Plays an important role in ER stress-induced, CHOP-dependent apoptosis by activating the inositol 1,4,5-trisphosphate receptor IP3R1. N-glycosylated.;The Cys-94/Cys-99 and Cys-394/Cys-397 disulfide bonds constitute the redox-active center. The Cys-94/Cys-99 disulfide bond may accept electron from P4HB and funnel them to the active site disulfide Cys-394/Cys-397 (By similarity). The regulatory Cys-99/Cys-104 disulfide bond stabilizes the other regulatory bond Cys-94/Cys-131 (PubMed:23027870). Belongs to the EROs family. Protein processing in endoplasmic reticulum;Vibrio cholerae infection;Insulin processing;Detoxification of Reactive Oxygen Species PE1 14 +NX_Q96HE8 Transmembrane protein 80 216 23077 10.55 4 Membrane;Golgi apparatus;Cilium NA NA NA NA NA PE2 11 +NX_Q96HE9 Proline-rich protein 11 360 40085 10.13 0 Endoplasmic reticulum;Cytoplasm;Nucleus NA Plays a critical role in cell cycle progression. Ubiquitinated (Probable). Rapidly degraded by the proteasome; degradation may involve FBXW7-specific phosphorylated phosphodegron motifs. NA NA PE1 17 +NX_Q96HF1 Secreted frizzled-related protein 2 295 33490 7.41 0 Secreted;Cytoskeleton NA Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP2 may be important for eye retinal development and for myogenesis. NA Belongs to the secreted frizzled-related protein (sFRP) family. Wnt signaling pathway;TCF dependent signaling in response to WNT;Negative regulation of TCF-dependent signaling by WNT ligand antagonists PE1 4 +NX_Q96HG1 Small integral membrane protein 10 83 9236 10.36 1 Membrane NA NA NA NA NA PE1 X +NX_Q96HH4 Transmembrane protein 169 297 33611 4.76 2 Membrane;Nucleoplasm;Cytosol;Centrosome NA NA NA NA NA PE1 2 +NX_Q96HH6 Transmembrane protein 19 336 36392 8.73 6 Membrane NA NA NA Belongs to the TMEM19 family. NA PE1 12 +NX_Q96HH9 GRAM domain-containing protein 2B 432 47869 8 0 Golgi apparatus;Nucleoplasm;Cytosol NA NA NA NA NA PE1 5 +NX_Q96HI0 Sentrin-specific protease 5 755 86693 9.3 0 Nucleolus;Cell membrane NA Protease that catalyzes two essential functions in the SUMO pathway: processing of full-length SUMO3 to its mature form and deconjugation of SUMO2 and SUMO3 from targeted proteins. Has weak proteolytic activity against full-length SUMO1 or SUMO1 conjugates. Required for cell division. NA Belongs to the peptidase C48 family. SUMO is proteolytically processed PE1 3 +NX_Q96HJ3 Coiled-coil domain-containing protein 34 373 43225 7.06 0 Nucleolus;Nucleus membrane NA NA NA NA NA PE1 11 +NX_Q96HJ5 Membrane-spanning 4-domains subfamily A member 3 214 22933 5.18 4 Golgi apparatus;Endomembrane system;Perinuclear region;Cytoplasmic vesicle NA Hematopoietic modulator for the G1-S cell cycle transition. Modulates the level of phosphorylation of cyclin-dependent kinase 2 (CDK2) through its direct binding to cyclin-dependent kinase inhibitor 3 (CDKN3/KAP). NA Belongs to the MS4A family. Neutrophil degranulation PE1 11 +NX_Q96HJ9 Protein FMC1 homolog 113 12749 10.08 0 Mitochondrion NA Plays a role in the assembly/stability of the mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) (PubMed:28719601). NA Belongs to the FMC1 family. NA PE1 7 +NX_Q96HL8 SH3 domain-containing YSC84-like protein 1 342 37148 9.18 0 Nucleoplasm NA NA NA Belongs to the SH3YL1 family. NA PE1 2 +NX_Q96HM7 PC-esterase domain-containing protein 1B 432 49727 9.58 0 Golgi apparatus;Cytoplasmic vesicle NA NA NA Belongs to the PC-esterase family. NA PE1 12 +NX_Q96HN2 Adenosylhomocysteinase 3 611 66721 7.13 0 Nucleoplasm;Cytosol;Cytoplasm;Microsome NA May regulate the electrogenic sodium/bicarbonate cotransporter SLC4A4 activity and Mg(2+)-sensitivity. On the contrary of its homolog AHCYL1, does not regulate ITPR1 sensitivity to inositol 1,4,5-trisphosphate (PubMed:19220705). Phosphorylated during neuronal differentiation at the LISN domain. Belongs to the adenosylhomocysteinase family. Amino-acid biosynthesis; L-homocysteine biosynthesis; L-homocysteine from S-adenosyl-L-homocysteine: step 1/1.;Cysteine and methionine metabolism;Metabolic pathways;Bicarbonate transporters PE1 7 +NX_Q96HP0 Dedicator of cytokinesis protein 6 2047 229558 6.28 0 Cytoplasm;Cytosol;Perinuclear region Adams-Oliver syndrome 2 Acts as guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its activation of CDC42 and RAC1, may regulate neurite outgrowth (By similarity). NA Belongs to the DOCK family. Factors involved in megakaryocyte development and platelet production PE1 19 +NX_Q96HP4 Oxidoreductase NAD-binding domain-containing protein 1 312 34854 8.68 0 Nucleoplasm NA NA NA NA NA PE1 3 +NX_Q96HP8 Transmembrane protein 176A 235 26116 8.83 4 Membrane;Mitochondrion NA NA NA Belongs to the TMEM176 family. NA PE1 7 +NX_Q96HQ0 Zinc finger protein 419 510 58564 9.22 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q96HQ2 CDKN2AIP N-terminal-like protein 116 13196 4.87 0 NA NA NA NA Belongs to the CARF family. NA PE1 5 +NX_Q96HR3 Mediator of RNA polymerase II transcription subunit 30 178 20277 8.45 0 Nucleoplasm;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 30 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 8 +NX_Q96HR8 H/ACA ribonucleoprotein complex non-core subunit NAF1 494 53717 4.76 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and disappears during maturation of the complex and is replaced by NOLA1/GAR1 to yield mature H/ACA snoRNPs complex. Probably competes with NOLA1/GAR1 for binding with DKC1/NOLA4. NA Belongs to the NAF1 family. NA PE1 4 +NX_Q96HR9 Receptor expression-enhancing protein 6 211 23418 8.74 2 Endoplasmic reticulum;Endoplasmic reticulum membrane;Clathrin-coated vesicle membrane Retinitis pigmentosa 77 Required for correct function and survival of retinal photoreceptors (PubMed:27889058). Required for retinal development (By similarity). In rod photoreceptors, facilitates stability and/or trafficking of guanylate cyclases and is required to maintain endoplasmic reticulum and mitochondrial homeostasis (By similarity). May play a role in clathrin-coated intracellular vesicle trafficking of proteins from the endoplasmic reticulum to the retinal rod plasma membrane (By similarity). NA Belongs to the DP1 family. Olfactory Signaling Pathway PE1 19 +NX_Q96HS1 Serine/threonine-protein phosphatase PGAM5, mitochondrial 289 32004 8.88 1 Mitochondrion outer membrane;Mitochondrion NA Displays phosphatase activity for serine/threonine residues, and, dephosphorylates and activates MAP3K5 kinase. Has apparently no phosphoglycerate mutase activity. May be regulator of mitochondrial dynamics. Substrate for a KEAP1-dependent ubiquitin ligase complex. Contributes to the repression of NFE2L2-dependent gene expression. Acts as a central mediator for programmed necrosis induced by TNF, by reactive oxygen species and by calcium ionophore. Both isoform 1 and isoform 2 are phosphorylated by the RIPK1/RIPK3 complex under necrotic conditions. This phosphorylation increases PGAM5 phosphatase activity. Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily. Receptor Mediated Mitophagy PE1 12 +NX_Q96HT8 MORF4 family-associated protein 1-like 1 127 14808 4.46 0 NA NA NA NA Belongs to the MORF4 family-associated protein family. NA PE1 4 +NX_Q96HU1 Small G protein signaling modulator 3 749 85354 5.66 0 Golgi apparatus;Cytoplasm NA May play a cooperative role in NF2-mediated growth suppression of cells. NA Belongs to the small G protein signaling modulator family. NA PE1 22 +NX_Q96HU8 GTP-binding protein Di-Ras2 199 22485 8.98 0 Cell membrane NA Displays low GTPase activity and exists predominantly in the GTP-bound form. NA Belongs to the small GTPase superfamily. Di-Ras family. NA PE1 9 +NX_Q96HV5 Transmembrane protein 41A 264 29665 9.23 5 Membrane;Nucleoplasm;Golgi apparatus;Cytosol NA NA NA Belongs to the TMEM41 family. NA PE1 3 +NX_Q96HW7 Integrator complex subunit 4 963 108171 6 0 Nucleolus;Nucleus NA Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267). NA Belongs to the Integrator subunit 4 family. RNA polymerase II transcribes snRNA genes PE1 11 +NX_Q96HY6 DDRGK domain-containing protein 1 314 35611 5.12 0 Endoplasmic reticulum;Nucleolus Spondyloepimetaphyseal dysplasia, Shohat type Protein which interacts with the E3 UFM1-protein ligase UFL1 and one of its substrates TRIP4 and is required for TRIP4 ufmylation. Through TRIP4 ufmylation may regulate nuclear receptors-mediated transcription (PubMed:25219498). May play a role in NF-kappa-B-mediated transcription through regulation of the phosphorylation and the degradation of NFKBIA, the inhibitor of NF-kappa-B (PubMed:23675531). May also play a role in the cellular response to endoplasmic reticulum stress (By similarity). Plays a role in cartilage development through SOX9, inhibiting the ubiquitin-mediated proteasomal degradation of this transcriptional regulator (PubMed:28263186). Ubiquitinated. Ubiquitination probably triggers proteasomal degradation and is negatively regulated by UFL1, the enzyme involved in the ufmylation of DDRGK1.;Ufmylated. Conjugated to ubiquitin-like protein UFM1, probably at Lys-267 by UFL1. Belongs to the DDRGK1 family. NA PE1 20 +NX_Q96HY7 Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial 919 103077 6.46 0 Mitochondrion 2-aminoadipic 2-oxoadipic aciduria;Charcot-Marie-Tooth disease 2Q The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity). NA Belongs to the alpha-ketoglutarate dehydrogenase family. Glyoxylate metabolism and glycine degradation PE1 10 +NX_Q96HZ4 Transcription cofactor HES-6 224 24129 5.18 0 Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Does not bind DNA itself but suppresses both HES1-mediated N box-dependent transcriptional repression and binding of HES1 to E box sequences. Also suppresses HES1-mediated inhibition of the heterodimer formed by ASCL1/MASH1 and TCF3/E47, allowing ASCL1 and TCF3 to up-regulate transcription in its presence. Promotes cell differentiation (By similarity). NA NA NA PE1 2 +NX_Q96HZ7 Putative uncharacterized protein URB1-AS1 61 6513 12.37 0 NA NA NA NA NA NA PE5 21 +NX_Q96I13 Protein ABHD8 439 47331 6.54 0 Nucleoplasm;Nucleus NA NA NA Belongs to the AB hydrolase superfamily. NA PE1 19 +NX_Q96I15 Selenocysteine lyase 445 48149 6.63 0 Golgi apparatus;Cytosol NA Catalyzes the decomposition of L-selenocysteine to L-alanine and elemental selenium. NA Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. Selenocompound metabolism;Metabolic pathways;Metabolism of ingested SeMet, Sec, MeSec into H2Se PE1 2 +NX_Q96I23 Protein preY, mitochondrial 114 12655 9.45 0 Nucleoplasm;Mitochondrion NA NA NA Belongs to the PREY family. Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways PE1 4 +NX_Q96I24 Far upstream element-binding protein 3 572 61640 8.6 0 Nucleoplasm;Cytosol;Nucleus NA May interact with single-stranded DNA from the far-upstream element (FUSE). May activate gene expression. NA NA NA PE1 9 +NX_Q96I25 Splicing factor 45 401 44962 5.76 0 Nucleoplasm;Nucleus NA Splice factor that binds to the single-stranded 3'AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia. NA NA Spliceosome;mRNA Splicing - Major Pathway PE1 10 +NX_Q96I27 Zinc finger protein 625 306 34746 9.21 0 Nucleoplasm;Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q96I34 Protein phosphatase 1 regulatory subunit 16A 528 57811 5.68 0 Cell membrane NA Inhibits protein phosphatase 1 activity toward phosphorylase, myosin light chain and myosin substrates. NA NA NA PE1 8 +NX_Q96I36 Cytochrome c oxidase assembly protein COX14 57 6600 9.58 1 Mitochondrion membrane;Mitochondrion NA Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Requires for coordination of the early steps of cytochrome c oxidase assembly with the synthesis of MT-CO1. NA NA Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 12 +NX_Q96I45 Transmembrane protein 141 108 11875 8.69 2 Membrane;Cell junction;Mitochondrion NA NA NA Belongs to the TMEM141 family. NA PE1 9 +NX_Q96I51 RCC1-like G exchanging factor-like protein 464 49997 8.74 0 Mitochondrion;Nucleoplasm;Mitochondrion membrane;Cytosol;Mitochondrion inner membrane NA Guanine nucleotide exchange factor (GEF) for mitochondrial dynamin-related GTPase OPA1. Activates OPA1, by exchanging bound GDP for free GTP, and drives OPA1 and MFN1-dependent mitochondrial fusion (PubMed:28746876). Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system (PubMed:27667664). NA NA NA PE1 7 +NX_Q96I59 Probable asparagine--tRNA ligase, mitochondrial 477 54090 6.79 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion;Cytosol Deafness, autosomal recessive, 94;Combined oxidative phosphorylation deficiency 24 NA NA Belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation PE1 11 +NX_Q96I76 G patch domain-containing protein 3 525 59338 4.93 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Involved in transcriptional regulation. It is able to activate transcription from the CXCR4 promoter and therefore it might control neural crest cell migration involved in ocular and craniofacial development (PubMed:28397860). Is a negative regulator of immune antiviral response, acting via down-regulation of RIG-I-like receptors signaling and inhibition of type I interferon production. The control mechanism involves interaction with mitochondrial MAVS and inhibition of MAVS assembly with downstream proteins implicated in antiviral response, such as TBK1 and TRAF6 (PubMed:28414768). NA NA NA PE1 1 +NX_Q96I82 Kazal-type serine protease inhibitor domain-containing protein 1 304 32945 4.67 0 Extracellular matrix NA Involved in the proliferation of osteoblasts during bone formation and bone regeneration. Promotes matrix assembly (By similarity). NA NA NA PE1 10 +NX_Q96I99 Succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial 432 46511 6.15 0 Mitochondrion;Cell membrane NA GTP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit. NA Belongs to the succinate/malate CoA ligase beta subunit family. GTP-specific subunit beta subfamily. Carbohydrate metabolism; tricarboxylic acid cycle; succinate from succinyl-CoA (ligase route): step 1/1.;Citrate cycle (TCA cycle);Propanoate metabolism;Metabolic pathways;Citric acid cycle (TCA cycle) PE1 3 +NX_Q96IC2 RNA exonuclease 5 774 86886 8.64 0 Endoplasmic reticulum;Nucleolus;Nucleus membrane;Nucleus NA NA NA NA NA PE1 16 +NX_Q96ID5 Immunoglobulin superfamily member 21 467 51835 6.48 0 Postsynaptic cell membrane NA Involved in synaptic inhibition in the brain. Selectively regulates inhibitory presynaptic differentiation through interacting with presynaptic NRXN2. NA NA NA PE1 1 +NX_Q96IF1 LIM domain-containing protein ajuba 538 56934 6.86 0 Golgi apparatus;Cell membrane;Cell junction;Nucleoplasm;P-body;Centrosome;Nucleus;Cytoskeleton NA Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organization, repression of gene transcription, mitosis, cell-cell adhesion, cell differentiation, proliferation and migration. Contributes to the linking and/or strengthening of epithelia cell-cell junctions in part by linking adhesive receptors to the actin cytoskeleton. May be involved in signal transduction from cell adhesion sites to the nucleus. Plays an important role in regulation of the kinase activity of AURKA for mitotic commitment. Also a component of the IL-1 signaling pathway modulating IL-1-induced NFKB1 activation by influencing the assembly and activity of the PRKCZ-SQSTM1-TRAF6 multiprotein signaling complex. Functions as an HDAC-dependent corepressor for a subset of GFI1 target genes. Acts as a transcriptional corepressor for SNAI1 and SNAI2/SLUG-dependent repression of E-cadherin transcription. Acts as a hypoxic regulator by bridging an association between the prolyl hydroxylases and VHL enabling efficient degradation of HIF1A. Positively regulates microRNA (miRNA)-mediated gene silencing. Negatively regulates the Hippo signaling pathway and antagonizes phosphorylation of YAP1. Phosphorylated by LATS2 during mitosis. Phosphorylated by AURKA.;AJUBA is phosphorylated by LATS2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);AJUBA is phosphorylated by PRKCZ (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the zyxin/ajuba family. Regulation of PLK1 Activity at G2/M Transition;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 14 +NX_Q96IG2 F-box/LRR-repeat protein 20 436 48423 7.65 0 Cytoplasm;Cytoskeleton NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Role in neural transmission (By similarity). NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 17 +NX_Q96II8 DISP complex protein LRCH3 777 86083 6.25 0 Cytoplasm;Cytosol NA As part of the DISP complex, may regulate the association of septins with actin and thereby regulate the actin cytoskeleton. NA NA NA PE1 3 +NX_Q96IJ6 Mannose-1-phosphate guanyltransferase alpha 420 46291 6.73 0 Nucleoplasm;Cytoplasm Alacrima, achalasia, and mental retardation syndrome May serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose. NA Belongs to the transferase hexapeptide repeat family. Fructose and mannose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Synthesis of GDP-mannose PE1 2 +NX_Q96IK0 Transmembrane protein 101 257 28795 9.62 8 Membrane;Nucleoplasm;Cytosol;Cell membrane NA May activate NF-kappa-B signaling pathways. NA NA NA PE1 17 +NX_Q96IK1 Biorientation of chromosomes in cell division protein 1 185 19196 5.89 0 Centrosome;Kinetochore NA Required for proper chromosome biorientation through the detection or correction of syntelic attachments in mitotic spindles. NA Belongs to the BOD1 family. NA PE1 5 +NX_Q96IK5 Germ cell-less protein-like 1 515 58685 7.42 0 Nucleus matrix NA Possible function in spermatogenesis. Enhances the degradation of MDM2 and increases the amount of p53 probably by modulating the nucleocytoplasmic transport (By similarity). NA NA NA PE1 2 +NX_Q96IL0 Cytochrome c oxidase assembly factor 8 206 24153 9.99 0 Mitochondrion inner membrane Mitochondrial complex IV deficiency Required for cytochrome c complex (COX) IV assembly and function Protects COX assembly from oxidation-induced degradation, COX being the terminal component of the mitochondrial respiratory chain. N-terminal mitochondrial targeting sequence is cleaved from the mature protein once in the mitochondrion.;In normal conditions, the cytoplasmic precursor protein is rapidly degraded by the ubiquitination-proteasome system (UPS). Oxidative stress induces protein stabilization and import into mitochondria where it protects COX from degradation. Belongs to the COA8 family. NA PE1 14 +NX_Q96IM9 DPY30 domain-containing protein 2 177 20586 5.46 0 NA NA NA NA Belongs to the dpy-30 family. NA PE1 10 +NX_Q96IP4 Terminal nucleotidyltransferase 5A 442 49666 5.03 0 NA Osteogenesis imperfecta 18 Probable nucleotidyltransferase that may act as a non-canonical poly(A) RNA polymerase. NA Belongs to the TENT family. NA PE1 6 +NX_Q96IQ7 V-set and immunoglobulin domain-containing protein 2 327 34348 7.5 1 Membrane;Nucleoplasm NA NA NA NA NA PE1 11 +NX_Q96IQ9 Zinc finger protein 414 312 32782 8.02 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q96IR2 Zinc finger protein 845 970 113133 9.47 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q96IR3 Putative uncharacterized protein MGC15705 41 4679 5.05 0 NA NA NA NA NA NA PE5 22 +NX_Q96IR7 4-hydroxyphenylpyruvate dioxygenase-like protein 371 39386 6.55 0 Mitochondrion NA May have dioxygenase activity. NA Belongs to the 4HPPD family. NA PE1 1 +NX_Q96IS3 Retina and anterior neural fold homeobox protein 2 184 20086 9.45 0 Nucleus Macular degeneration, age-related, 6;Cone-rod dystrophy 11 May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter. NA NA NA PE1 19 +NX_Q96IT1 Zinc finger protein 496 587 66908 5.48 0 Golgi apparatus;Nucleus NA DNA-binding transcription factor that can both act as an activator and a repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 1 +NX_Q96IT6 Putative uncharacterized protein ARHGAP5-AS1 56 6106 10.42 0 NA NA NA NA NA NA PE5 14 +NX_Q96IU2 Zinc finger BED domain-containing protein 3 234 25132 8.65 0 Membrane;Cytoplasm;Nucleoplasm;Cell membrane NA Acts as a positive regulator in the activation of the canonical Wnt/beta-catenin signaling pathway by stabilizing cytoplasmic beta-catenin. Involved in transcription activation of Wnt target gene expression (By similarity). NA NA NA PE1 5 +NX_Q96IU4 Protein ABHD14B 210 22346 5.94 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Has hydrolase activity towards p-nitrophenyl butyrate (in vitro). May activate transcription. NA Belongs to the AB hydrolase superfamily. ABHD14 family. Cytosolic sulfonation of small molecules PE1 3 +NX_Q96IV0 Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase 654 74390 6.47 0 Cytoplasm Congenital disorder of deglycosylation Specifically deglycosylates the denatured form of N-linked glycoproteins in the cytoplasm and assists their proteasome-mediated degradation. Cleaves the beta-aspartyl-glucosamine (GlcNAc) of the glycan and the amide side chain of Asn, converting Asn to Asp. Prefers proteins containing high-mannose over those bearing complex type oligosaccharides. Can recognize misfolded proteins in the endoplasmic reticulum that are exported to the cytosol to be destroyed and deglycosylate them, while it has no activity toward native proteins. Deglycosylation is a prerequisite for subsequent proteasome-mediated degradation of some, but not all, misfolded glycoproteins. NA Belongs to the transglutaminase-like superfamily. PNGase family. Protein processing in endoplasmic reticulum;N-glycan trimming in the ER and Calnexin/Calreticulin cycle PE1 3 +NX_Q96IV6 Fatty acid hydroxylase domain-containing protein 2 333 39002 9.01 5 Membrane NA NA NA Belongs to the sterol desaturase family. Steroid biosynthesis;Metabolic pathways PE1 5 +NX_Q96IW2 SH2 domain-containing adapter protein D 340 38264 4.88 0 Cytosol;Centriolar satellite NA May function as an adapter protein. Tyrosine phosphorylated by ABL.;SHD is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255) NA NA PE1 19 +NX_Q96IW7 Vesicle-trafficking protein SEC22a 307 34948 8.57 4 Endoplasmic reticulum membrane NA May be involved in vesicle transport between the ER and the Golgi complex. NA Belongs to the synaptobrevin family. COPII-mediated vesicle transport PE1 3 +NX_Q96IX5 ATP synthase membrane subunit DAPIT, mitochondrial 58 6458 9.78 1 Mitochondrion membrane;Mitochondrion NA Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). Minor subunit required to maintain the ATP synthase population in the mitochondria (PubMed:21345788). NA NA NA PE1 10 +NX_Q96IX9 Putative ankyrin repeat domain-containing protein 26-like 1 119 14172 9.1 0 NA NA NA NA NA NA PE5 1 +NX_Q96IY1 Kinetochore-associated protein NSL1 homolog 281 32162 6.35 0 Kinetochore;Nucleus speckle;Nucleus NA Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis. NA NA Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 1 +NX_Q96IY4 Carboxypeptidase B2 423 48424 7.61 0 Secreted NA Cleaves C-terminal arginine or lysine residues from biologically active peptides such as kinins or anaphylatoxins in the circulation thereby regulating their activities. Down-regulates fibrinolysis by removing C-terminal lysine residues from fibrin that has already been partially degraded by plasmin. N-glycosylated. N-glycan at Asn-108: Hex5HexNAc4. Belongs to the peptidase M14 family. Complement and coagulation cascades;Pancreatic secretion;Protein digestion and absorption;Regulation of Complement cascade;Metabolism of Angiotensinogen to Angiotensins PE1 13 +NX_Q96IZ0 PRKC apoptosis WT1 regulator protein 340 36568 5.35 0 Cytoplasm;Cell membrane;Nucleus;Cytoskeleton NA Pro-apoptotic protein capable of selectively inducing apoptosis in cancer cells, sensitizing the cells to diverse apoptotic stimuli and causing regression of tumors in animal models. Induces apoptosis in certain cancer cells by activation of the Fas prodeath pathway and coparallel inhibition of NF-kappa-B transcriptional activity. Inhibits the transcriptional activation and augments the transcriptional repression mediated by WT1. Down-regulates the anti-apoptotic protein BCL2 via its interaction with WT1. Seems also to be a transcriptional repressor by itself. May be directly involved in regulating the amyloid precursor protein (APP) cleavage activity of BACE1. Preferentially phosphorylated at the Thr-163 by PKC in cancer cells.;PAWR is phosphorylated by DAPK3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA NA PE1 12 +NX_Q96IZ2 Androgen-dependent TFPI-regulating protein 230 26842 9.74 6 Nucleolus;Cell membrane NA Hydrolyzes bioactive fatty-acid esters of hydroxy-fatty acids (FAHFAs), but not other major classes of lipids (PubMed:27018888). Show a preference for FAHFAs with branching distal from the carboxylate head group of the lipids (PubMed:27018888). Regulates the expression and the cell-associated anticoagulant activity of the inhibitor TFPI in endothelial cells (in vitro) (PubMed:21868574). NA Belongs to the AIG1 family. NA PE1 6 +NX_Q96IZ5 RNA-binding protein 41 413 47100 8.85 0 Cytoplasm;Cytosol;Nucleus speckle NA May bind RNA. NA NA NA PE1 X +NX_Q96IZ6 tRNA N(3)-methylcytidine methyltransferase METTL2A 378 43537 5.69 0 NA NA S-adenosyl-L-methionine-dependent methyltransferase that mediates N(3)-methylcytidine modification of residue 32 of the tRNA anticodon loop of tRNA(Thr)(UGU) and tRNA(Arg)(CCU). NA Belongs to the methyltransferase superfamily. METL family. NA PE1 17 +NX_Q96IZ7 Serine/Arginine-related protein 53 334 38677 11.08 0 Cytoplasm;Nucleus speckle;Nucleus Intellectual developmental disorder, autosomal recessive 70 Has a role in alternative splicing and transcription regulation (PubMed:29522154). Involved in both constitutive and alternative pre-mRNA splicing. May have a role in the recognition of the 3' splice site during the second step of splicing. Phosphorylated. NA NA PE1 3 +NX_Q96J01 THO complex subunit 3 351 38772 5.7 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus speckle;Nucleus NA Required for efficient export of polyadenylated RNA and spliced mRNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. NA NA RNA transport;Spliceosome;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 5 +NX_Q96J02 E3 ubiquitin-protein ligase Itchy homolog 903 102803 5.94 0 Cytoplasm;Endosome membrane;Cell membrane;Nucleoplasm;Early endosome membrane;Cytoplasmic vesicle;Nucleus Autoimmune disease, multisystem, with facial dysmorphism Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:14602072, PubMed:17028573, PubMed:16387660, PubMed:18718448, PubMed:18718449, PubMed:11046148, PubMed:19592251, PubMed:19116316, PubMed:19881509, PubMed:20491914, PubMed:20392206, PubMed:20068034, PubMed:23146885, PubMed:24790097, PubMed:25631046). Catalyzes 'Lys-29'-, 'Lys-48'- and 'Lys-63'-linked ubiquitin conjugation (PubMed:17028573, PubMed:18718448, PubMed:19131965, PubMed:19881509). Involved in the control of inflammatory signaling pathways (PubMed:19131965). Essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, TAX1BP1 and RNF11, that ensures the transient nature of inflammatory signaling pathways (PubMed:19131965). Promotes the association of the complex after TNF stimulation (PubMed:19131965). Once the complex is formed, TNFAIP3 deubiquitinates 'Lys-63' polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys-48'-polyubiquitin chains (PubMed:19131965). This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NFKB1 (PubMed:19131965). Ubiquitinates RIPK2 by 'Lys-63'-linked conjugation and influences NOD2-dependent signal transduction pathways (PubMed:19592251). Regulates the transcriptional activity of several transcription factors, and probably plays an important role in the regulation of immune response (PubMed:18718448, PubMed:20491914). Ubiquitinates NFE2 by 'Lys-63' linkages and is implicated in the control of the development of hematopoietic lineages (PubMed:18718448). Mediates JUN ubiquitination and degradation (By similarity). Mediates JUNB ubiquitination and degradation (PubMed:16387660). Critical regulator of type 2 helper T (Th2) cell cytokine production by inducing JUNB ubiquitination and degradation (By similarity). Involved in the negative regulation of MAVS-dependent cellular antiviral responses (PubMed:19881509). Ubiquitinates MAVS through 'Lys-48'-linked conjugation resulting in MAVS proteasomal degradation (PubMed:19881509). Following ligand stimulation, regulates sorting of Wnt receptor FZD4 to the degradative endocytic pathway probably by modulating PI42KA activity (PubMed:23146885). Ubiquitinates PI4K2A and negatively regulates its catalytic activity (PubMed:23146885). Ubiquitinates chemokine receptor CXCR4 and regulates sorting of CXCR4 to the degradative endocytic pathway following ligand stimulation by ubiquitinating endosomal sorting complex required for transport ESCRT-0 components HGS and STAM (PubMed:14602072, PubMed:23146885). Targets DTX1 for lysosomal degradation and controls NOTCH1 degradation, in the absence of ligand, through 'Lys-29'-linked polyubiquitination (PubMed:17028573, PubMed:18628966, PubMed:23886940). Ubiquitinates SNX9 (PubMed:20491914). Ubiquitinates MAP3K7 through 'Lys-48'-linked conjugation (By similarity). Involved in the regulation of apoptosis and reactive oxygen species levels through the ubiquitination and proteasomal degradation of TXNIP (PubMed:20068034). Mediates the antiapoptotic activity of epidermal growth factor through the ubiquitination and proteasomal degradation of p15 BID (PubMed:20392206). Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046). Monoubiquitinated (PubMed:19116316). Autopolyubiquitinated with 'Lys-63' linkages which does not lead to protein degradation (PubMed:18718449, PubMed:23146885, PubMed:24790097).;On T-cell activation, phosphorylation by the JNK cascade on serine and threonine residues surrounding the PRR domain accelerates the ubiquitination and degradation of JUN and JUNB. The increased ITCH catalytic activity due to phosphorylation by JNK1 may occur due to a conformational change disrupting the interaction between the PRR/WW motifs domain and the HECT domain and, thus exposing the HECT domain (By similarity). Phosphorylation by FYN reduces interaction with JUNB and negatively controls JUN ubiquitination and degradation.;ITCH is phosphorylated by SGK3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Protein modification; protein ubiquitination.;Degradation of GLI1 by the proteasome;Hedgehog 'on' state;Antigen processing: Ubiquitination & Proteasome degradation;NOD1/2 Signaling Pathway;Negative regulators of DDX58/IFIH1 signaling;Activated NOTCH1 Transmits Signal to the Nucleus;Downregulation of ERBB4 signaling;RUNX1 regulates transcription of genes involved in differentiation of HSCs PE1 20 +NX_Q96J42 Thioredoxin domain-containing protein 15 360 39885 4.77 1 Cilium membrane;Golgi apparatus NA Acts as a positive regulator of ciliary hedgehog signaling (By similarity). Involved in ciliogenesis (PubMed:27894351). NA NA NA PE1 5 +NX_Q96J65 Multidrug resistance-associated protein 9 1359 152297 8.64 10 Membrane NA Probable transporter. NA Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. ABC transporters PE1 16 +NX_Q96J66 ATP-binding cassette sub-family C member 11 1382 154301 8.39 10 Vacuole membrane;Cytoplasmic vesicle membrane;Cell membrane NA Participates in physiological processes involving bile acids, conjugated steroids and cyclic nucleotides (PubMed:12764137, PubMed:15537867). Enhances the cellular extrusion of cAMP and cGMP (PubMed:12764137, PubMed:15537867). Stimulates the ATP-dependent uptake of a range of physiological and synthetic lipophilic anions, including the glutathione S-conjugates leukotriene C4 and dinitrophenyl S-glutathione, steroid sulfates such as dehydroepiandrosterone 3-sulfate (DHEAS) and estrone 3-sulfate, glucuronides such as estradiol 17-beta-D-glucuronide (E(2)17betaG), the monoanionic bile acids glycocholate and taurocholate, and methotrexate (PubMed:15537867, PubMed:25896536). Probably functions to secrete earwax (PubMed:16444273, PubMed:19383836). Required for the secretion of components contributing to axillary odor formation (PubMed:19710689). NA Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. ABC transporters;ABC-family proteins mediated transport PE1 16 +NX_Q96J77 Tumor protein D55 140 15503 9.96 0 NA NA NA NA Belongs to the TPD52 family. NA PE1 9 +NX_Q96J84 Kin of IRRE-like protein 1 757 83536 5.49 1 Cell membrane NA Plays a significant role in the normal development and function of the glomerular permeability. Signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1 (By similarity). N-glycosylated.;Phosphorylation probably regulates the interaction with NSH2. Phosphorylated at Tyr-605 and Tyr-606 by FYN, leading to GRB2 binding (By similarity). Belongs to the immunoglobulin superfamily. Nephrin family interactions PE1 1 +NX_Q96J86 Cysteine and tyrosine-rich protein 1 154 16626 8.28 1 Membrane;Nucleoplasm NA NA NA Belongs to the CYYR1 family. NA PE2 21 +NX_Q96J87 CUGBP Elav-like family member 6 481 50477 8.87 0 Cytoplasm;Nucleus NA RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of TNNT2 in a muscle-specific splicing enhancer (MSE)-dependent manner. Promotes also exon exclusion of INSR pre-mRNA. NA Belongs to the CELF/BRUNOL family. NA PE1 15 +NX_Q96J88 Epithelial-stromal interaction protein 1 318 36793 9.9 0 NA NA Plays a role in M1 macrophage polarization and is required for the proper regulation of gene expression during M1 versus M2 macrophage differentiation (By similarity). Might play a role in RELA/p65 and STAT1 phosphorylation and nuclear localization upon activation of macrophages (By similarity). NA NA NA PE1 13 +NX_Q96J92 Serine/threonine-protein kinase WNK4 1243 134739 5.36 0 Tight junction Pseudohypoaldosteronism 2B Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D, SGK1, TRPV5 and TRPV6. Regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation which appears to prevent membrane trafficking of SLC12A3. Also inhibits the renal K(+) channel, KCNJ1, via a kinase-independent mechanism by which it induces clearance of the protein from the cell surface by clathrin-dependent endocytosis. WNK4 appears to act as a molecular switch that can vary the balance between NaCl reabsorption and K(+) secretion to maintain integrated homeostasis. Phosphorylates NEDD4L. Acts as a scaffold to inhibit SLC4A4 as well as CFTR activities and surface expression, recruits STK39 which mediates the inhibition (By similarity). Phosphorylated by WNK1 and WNK3.;Ubiquitinated by the BCR(KLHL3) complex, leading to its degradation and increased expression of KCNJ1 at the cell surface. Ubiquitinated by the BCR(KLHL2) complex.;WNK4 is phosphorylated by WNK3 (Phosphoserine:PTM-0253) Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily. Stimuli-sensing channels PE1 17 +NX_Q96J94 Piwi-like protein 1 861 98603 9.5 0 Cytoplasm NA May be a negative developmental regulator (PubMed:12037681, PubMed:16287078).;Endoribonuclease that plays a central role in postnatal germ cells by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Directly binds methylated piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. Strongly prefers a uridine in the first position of their guide (g1U preference, also named 1U-bias). Not involved in the piRNA amplification loop, also named ping-pong amplification cycle. Acts as an endoribonuclease that cleaves transposon messenger RNAs. Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation. Probable component of some RISC complex, which mediates RNA cleavage and translational silencing. Also plays a role in the formation of chromatoid bodies and is required for some miRNAs stability. Required to sequester RNF8 in the cytoplasm until late spermatogenesis; RNF8 being released upon ubiquitination and degradation of PIWIL1. Ubiquitinated by the anaphase promoting complex/cyclosome (APC/C) in late spermatids, leading to its degradation (PubMed:28552346). Ubiquitination only takes place following piRNA-binding in adult testis (By similarity). Ubiquitination and degradation in late spermatogenesis by APC/C is probably required to release RNF8 from the cytoplasm and promote histone to protamine exchange by RNF8 (By similarity).;Arginine methylation by PRMT5 is required for the interaction with Tudor domain-containing protein (TDRD1, TDRKH/TDRD2, RNF17/TDRD4, TDRD6, TDRD7 and TDRD9) and subsequent localization to the meiotic nuage, also named P granule. Belongs to the argonaute family. Piwi subfamily. Dorso-ventral axis formation;PIWI-interacting RNA (piRNA) biogenesis PE1 12 +NX_Q96JA1 Leucine-rich repeats and immunoglobulin-like domains protein 1 1093 119113 6.66 1 Cytosol;Cell membrane NA Acts as a feedback negative regulator of signaling by receptor tyrosine kinases, through a mechanism that involves enhancement of receptor ubiquitination and accelerated intracellular degradation. NA NA Signaling by EGFR;Negative regulation of MET activity PE1 3 +NX_Q96JA3 Pleckstrin homology domain-containing family A member 8 519 58261 5.03 0 Membrane;trans-Golgi network membrane NA Cargo transport protein that is required for apical transport from the Golgi complex. Transports AQP2 from the trans-Golgi network (TGN) to sites of AQP2 phosphorylation. Mediates the non-vesicular transport of glucosylceramide (GlcCer) from the trans-Golgi network (TGN) to the plasma membrane and plays a pivotal role in the synthesis of complex glycosphingolipids. Binding of both phosphatidylinositol 4-phosphate (PIP) and ARF1 are essential for the GlcCer transfer ability. Also required for primary cilium formation, possibly by being involved in the transport of raft lipids to the apical membrane, and for membrane tubulation. NA NA Synthesis of PIPs at the plasma membrane PE1 7 +NX_Q96JA4 Membrane-spanning 4-domains subfamily A member 14 679 76580 5.39 4 Membrane;Nucleoplasm;Cell membrane NA May be involved in signal transduction as a component of a multimeric receptor complex. NA Belongs to the MS4A family. NA PE2 11 +NX_Q96JB1 Dynein heavy chain 8, axonemal 4490 514664 5.95 0 Cilium axoneme NA Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity). NA Belongs to the dynein heavy chain family. NA PE1 6 +NX_Q96JB2 Conserved oligomeric Golgi complex subunit 3 828 94096 5.39 0 Golgi apparatus;Cell membrane;Golgi stack membrane;Nucleoplasm;Cytosol NA Involved in ER-Golgi transport. NA Belongs to the COG3 family. Intra-Golgi traffic;COPI-mediated anterograde transport;Retrograde transport at the Trans-Golgi-Network PE1 13 +NX_Q96JB3 Hypermethylated in cancer 2 protein 615 66156 5.95 0 Nucleoplasm;Nucleus NA Transcriptional repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Hic subfamily. NA PE1 22 +NX_Q96JB5 CDK5 regulatory subunit-associated protein 3 506 56921 4.68 0 Cytoplasm;Nucleolus;Centrosome;Cytoplasmic vesicle;Cytosol;Nucleus NA (Microbial infection) May be negatively regulated by hepatitis B virus large envelope protein mutant pre-s2 to promote mitotic entry.;Probable tumor suppressor initially identified as a CDK5R1 interactor controlling cell proliferation (PubMed:12054757, PubMed:12737517). Negatively regulates NF-kappa-B-mediated gene transcription through the control of RELA phosphorylation (PubMed:17785205, PubMed:20228063). Also regulates mitotic G2/M transition checkpoint and mitotic G2 DNA damage checkpoint (PubMed:15790566, PubMed:19223857). Through its interaction with CDKN2A/ARF and MDM2 may induce MDM2-dependent p53/TP53 ubiquitination, stabilization and activation in the nucleus, thereby promoting G1 cell cycle arrest and inhibition of cell proliferation (PubMed:16173922). May play a role in the unfolded protein response, mediating the ufmylation of multiple proteins in response to endoplasmic reticulum stress (PubMed:23152784). May also play a role in the rupture of the nuclear envelope during apoptosis (PubMed:23478299). May regulate MAPK14 activity by regulating its dephosphorylation by PPM1D/WIP1 (PubMed:21283629). Ubiquitinated. Probably triggers proteasomal degradation and is negatively regulated by UFL1.;Cleaved by caspases early during apoptosis, the resulting peptides may play a role in rupture of the nuclear envelope.;May be ufmylated.;May be phosphorylated by CDK5. Belongs to the CDK5RAP3 family. NA PE1 17 +NX_Q96JB6 Lysyl oxidase homolog 4 756 84483 7.32 0 Cytoplasmic vesicle;Extracellular space NA May modulate the formation of a collagenous extracellular matrix. The lysine tyrosylquinone cross-link (LTQ) is generated by condensation of the epsilon-amino group of a lysine with a topaquinone produced by oxidation of tyrosine. Belongs to the lysyl oxidase family. Elastic fibre formation;Crosslinking of collagen fibrils PE1 10 +NX_Q96JB8 MAGUK p55 subfamily member 4 637 72779 5.4 0 Cytoplasm;Cytosol;Cytoskeleton NA May play a role in retinal photoreceptors development. NA Belongs to the MAGUK family. NA PE1 2 +NX_Q96JC1 Vam6/Vps39-like protein 886 101809 6.53 0 Cytoplasm;Lysosome membrane;Late endosome;Lysosome;Late endosome membrane NA Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act in part as a component of the putative HOPS endosomal tethering complex which is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes (PubMed:23351085). Involved in homotypic vesicle fusions between late endosomes and in heterotypic fusions between late endosomes and lysosomes (PubMed:11448994, PubMed:23351085, PubMed:23167963). Required for fusion of endosomes and autophagosomes with lysosomes (PubMed:25783203).;Regulator of TGF-beta/activin signaling, inhibiting SMAD3- and activating SMAD2-dependent transcription. Acts by interfering with SMAD3/SMAD4 complex formation, this would lead to inhibition of SMAD3-dependent transcription and relieve SMAD3 inhibition of SMAD2-dependent promoters, thus increasing SMAD2-dependent transcription. Does not affect TGF-beta-induced SMAD2 or SMAD3 phosphorylation, nor SMAD2/SMAD4 complex formation. NA Belongs to the VAM6/VPS39 family. NA PE1 15 +NX_Q96JC4 Zinc finger protein 479 524 60598 9.21 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 7 +NX_Q96JC9 ELL-associated factor 1 268 29042 5.24 0 Cajal body;Nucleus speckle;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoskeleton NA Acts as a transcriptional transactivator of ELL and ELL2 elongation activities. NA Belongs to the EAF family. Formation of RNA Pol II elongation complex;RNA Polymerase II Pre-transcription Events;RNA Polymerase II Transcription Elongation PE1 3 +NX_Q96JD6 1,5-anhydro-D-fructose reductase 320 36589 7.19 0 Golgi apparatus;Nucleoplasm;Cytoplasm NA Catalyzes the NADPH-dependent reduction of 1,5-anhydro-D-fructose (AF) to 1,5-anhydro-D-glucitol (By similarity). Has low NADPH-dependent reductase activity towards 9,10-phenanthrenequinone (in vitro) (PubMed:12604216, PubMed:15118078). NA Belongs to the aldo/keto reductase family. NA PE1 10 +NX_Q96JE7 Protein transport protein Sec16B 1060 116604 5.71 0 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum;Golgi apparatus membrane;Cytoskeleton NA Plays a role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:17192411, PubMed:21768384, PubMed:22355596). Involved in peroxisome biogenesis. Regulates the transport of peroxisomal biogenesis factors PEX3 and PEX16 from the ER to peroxisomes (PubMed:21768384). NA Belongs to the SEC16 family. COPII-mediated vesicle transport PE1 1 +NX_Q96JE9 Microtubule-associated protein 6 813 86505 9.2 0 Golgi apparatus;Cell membrane;Secretory vesicle membrane;Axon;Dendrite;Cytoskeleton NA Involved in microtubule stabilization in many cell types, including neuronal cells (By similarity). Specifically has microtubule cold stabilizing activity (By similarity). Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with TMEM106B (PubMed:24357581). Regulates KIF5A-mediated axonal cargo transport (By similarity). Regulates axonal growth during neuron polarization (By similarity). Palmitoylated. Probably depalmitoylated by ABHD17A, ABHD17B and ABHD17C. During neuronal polarization, palmitoylation and depalmitoylation cycles regulate MAP6 shuttling between secretory vesicles and microtubules, and its polarized distribution in the axon. Belongs to the STOP family. NA PE1 11 +NX_Q96JF0 Beta-galactoside alpha-2,6-sialyltransferase 2 529 60158 9.77 1 Golgi stack membrane;Nucleoplasm;Nucleolus NA Transfers sialic acid from the donor of substrate CMP-sialic acid to galactose containing acceptor substrates. Has alpha-2,6-sialyltransferase activity toward oligosaccharides that have the Gal-beta-1,4-GlcNAc sequence at the non-reducing end of their carbohydrate groups, but it has weak or no activities toward glycoproteins and glycolipids. O-glycosylated. Belongs to the glycosyltransferase 29 family. N-Glycan biosynthesis;Other types of O-glycan biosynthesis;Metabolic pathways;Sialic acid metabolism PE1 2 +NX_Q96JF6 Zinc finger protein 594 807 93907 9.01 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 17 +NX_Q96JG6 Syndetin 964 111174 5.85 0 Recycling endosome;Cytosol;Cell membrane NA Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane. Within the EARP complex, required to tether the complex to recycling endosomes. Not involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). NA Belongs to the syndetin family. NA PE1 7 +NX_Q96JG8 Melanoma-associated antigen D4 741 81378 6.34 0 NA NA May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. NA NA NA PE1 X +NX_Q96JG9 Zinc finger protein 469 3925 410202 7.88 0 Cytoplasmic vesicle;Nucleus Brittle cornea syndrome 1 May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 16 +NX_Q96JH7 Deubiquitinating protein VCIP135 1222 134321 6.77 0 Cytoplasm;Cell membrane;Endoplasmic reticulum;Centrosome;Golgi stack NA Acts as a deubiquitinating enzyme. Necessary for VCP-mediated reassembly of Golgi stacks after mitosis. May play a role in VCP-mediated formation of transitional endoplasmic reticulum (tER). Mediates dissociation of the ternary complex containing STX5A, NSFL1C and VCP (By similarity). Hydrolyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitin chains. NA NA Ovarian tumor domain proteases PE1 8 +NX_Q96JH8 Ras-associating and dilute domain-containing protein 1075 117455 6.67 0 Nucleoplasm;Nucleus membrane NA Downstream effector of Rap required for cell adhesion and migration of neural crest precursors during development. NA Belongs to the RADIL family. NA PE1 7 +NX_Q96JI7 Spatacsin 2443 278868 5.63 0 Cell membrane;Nucleolus;Cytosol;Axon;Dendrite;Nucleus Spastic paraplegia 11, autosomal recessive;Amyotrophic lateral sclerosis 5, juvenile;Charcot-Marie-Tooth disease 2X May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport. NA NA NA PE1 15 +NX_Q96JJ3 Engulfment and cell motility protein 2 720 82615 5.62 0 Membrane;Cytoplasm;Cytosol Vascular malformation, primary intraosseous Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1. NA NA Regulation of actin dynamics for phagocytic cup formation;VEGFA-VEGFR2 Pathway;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases PE1 20 +NX_Q96JJ6 Junctophilin-4 628 65861 6.39 1 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Cell membrane NA Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH4 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory (By similarity). NA Belongs to the junctophilin family. NA PE1 14 +NX_Q96JJ7 Protein disulfide-isomerase TMX3 454 51872 4.8 1 Endoplasmic reticulum membrane NA Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds. May act as a dithiol oxidase. N-glycosylated. Belongs to the protein disulfide isomerase family. Platelet degranulation PE1 18 +NX_Q96JK2 DDB1- and CUL4-associated factor 5 942 103963 5.48 0 Mitochondrion NA May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. NA NA Protein modification; protein ubiquitination.;Neddylation PE1 14 +NX_Q96JK4 HHIP-like protein 1 782 86731 7.69 0 Secreted NA NA NA Belongs to the HHIP family. NA PE1 14 +NX_Q96JK9 Mastermind-like protein 3 1138 122293 7.12 0 Nucleus speckle NA Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. NA Belongs to the mastermind family. Notch signaling pathway;Pre-NOTCH Transcription and Translation;Notch-HLH transcription pathway;NOTCH2 intracellular domain regulates transcription;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells;RUNX3 regulates NOTCH signaling;NOTCH3 Intracellular Domain Regulates Transcription;NOTCH4 Intracellular Domain Regulates Transcription PE1 4 +NX_Q96JL9 Zinc finger protein 333 665 75544 8.27 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q96JM2 Zinc finger protein 462 2506 284688 7.53 0 Nucleoplasm;Nucleus NA Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organization (PubMed:20219459, PubMed:21570965). Involved in the pluripotency and differentiation of embryonic stem cells by regulating SOX2, POU5F1/OCT4, and NANOG (PubMed:21570965). By binding PBX1, prevents the heterodimerization of PBX1 and HOXA9 and their binding to DNA (By similarity). Regulates neuronal development and neural cell differentiation (PubMed:21570965). O-GlcNAcylated with O-GlcNAc-6-phosphate. NA NA PE1 9 +NX_Q96JM3 Chromosome alignment-maintaining phosphoprotein 1 812 89099 8.7 0 Kinetochore;Chromosome;Nucleoplasm;Spindle;Nucleus;Midbody ring Mental retardation, autosomal dominant 40 Required for proper alignment of chromosomes at metaphase and their accurate segregation during mitosis. Involved in the maintenance of spindle microtubules attachment to the kinetochore during sister chromatid biorientation. May recruit CENPE and CENPF to the kinetochore. Phosphorylated by CDK1. Mitotic phosphorylation is required for the attachment of spindle microtubules to the kinetochore. NA NA PE1 13 +NX_Q96JM4 Leucine-rich repeat and IQ domain-containing protein 1 1722 199300 5.85 0 NA NA NA NA NA NA PE1 12 +NX_Q96JM7 Lethal(3)malignant brain tumor-like protein 3 780 88337 6.02 0 Nucleoplasm;Nucleus;Nucleolus NA Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility. Required for normal maturation of myeloid progenitor cells (By similarity). NA NA NA PE1 6 +NX_Q96JN0 Ligand-dependent corepressor 433 47007 9.39 0 Nucleoplasm;Nucleus NA May act as transcription activator that binds DNA elements with the sequence 5'-CCCTATCGATCGATCTCTACCT-3' (By similarity). Repressor of ligand-dependent transcription activation by target nuclear receptors. Repressor of ligand-dependent transcription activation by ESR1, ESR2, NR3C1, PGR, RARA, RARB, RARG, RXRA and VDR. NA NA NA PE1 10 +NX_Q96JN2 Coiled-coil domain-containing protein 136 1154 134045 4.63 1 Acrosome membrane;Nucleolus NA May play a role in acrosome formation in spermatogenesis and in fertilization. NA NA NA PE1 7 +NX_Q96JN8 Neuralized-like protein 4 1562 166907 5.57 0 Centriole NA Promotes CCP110 ubiquitination and proteasome-dependent degradation. By counteracting accumulation of CP110, maintains normal centriolar homeostasis and preventing formation of ectopic microtubular organizing centers. Ubiquitinated; undergoes HERC2-dependent 'Lys-48' ubiquitination. This ubiquitination leads to proteasomal degradation. NA NA PE1 17 +NX_Q96JP0 Protein fem-1 homolog C 617 68673 7.6 0 Cytoplasm;Nucleoplasm NA Probable component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate recognition subunit. NA Belongs to the fem-1 family. Protein modification; protein ubiquitination.;Neddylation PE1 5 +NX_Q96JP2 Unconventional myosin-XVB 1530 167088 8.75 0 Cytoplasm NA Unknown, due to the absence of a functional motor domain. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. NA PE1 17 +NX_Q96JP5 E3 ubiquitin-protein ligase ZFP91 570 63445 7.02 0 Nucleoplasm;Cytosol;Nucleus NA Atypical E3 ubiquitin-protein ligase that mediates 'Lys-63'-linked ubiquitination of MAP3K14/NIK, leading to stabilize and activate MAP3K14/NIK. It thereby acts as an activator of the non-canonical NF-kappa-B2/NFKB2 pathway. May also play an important role in cell proliferation and/or anti-apoptosis. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Protein modification; protein ubiquitination. PE1 11 +NX_Q96JP9 Cadherin-related family member 1 859 93595 5.34 1 Cell membrane Cone-rod dystrophy 15 Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells (By similarity). Undergoes proteolytic cleavage; produces a soluble 95 kDa N-terminal fragment and a 25 kDa cell-associated C-terminal fragment. NA NA PE1 10 +NX_Q96JQ0 Protocadherin-16 3298 346181 4.79 1 Cell membrane Mitral valve prolapse 2;Van Maldergem syndrome 1 Calcium-dependent cell-adhesion protein. Mediates functions in neuroprogenitor cell proliferation and differentiation. In the heart, has a critical role for proper morphogenesis of the mitral valve, acting in the regulation of cell migration involved in valve formation (PubMed:26258302). NA NA NA PE1 11 +NX_Q96JQ2 Calmin 1002 111651 4.84 1 Membrane;Cytosol;Nucleus NA NA NA NA NA PE1 14 +NX_Q96JQ5 Membrane-spanning 4-domains subfamily A member 4A 239 25441 7.63 4 Membrane NA May be involved in signal transduction as a component of a multimeric receptor complex. NA Belongs to the MS4A family. NA PE1 11 +NX_Q96JS3 PiggyBac transposable element-derived protein 1 809 92515 5.45 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 6 +NX_Q96JT2 Solute carrier family 45 member 3 553 59323 7.44 11 Membrane;Cytoplasmic vesicle;Nucleoplasm NA NA NA Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. Cellular hexose transport PE1 1 +NX_Q96JW4 Solute carrier family 41 member 2 573 62473 5.69 11 Endoplasmic reticulum;Cell membrane NA Acts as a plasma-membrane magnesium transporter. NA Belongs to the SLC41A transporter family. Metal ion SLC transporters PE1 12 +NX_Q96JX3 Protein SERAC1 654 74147 7.59 1 Membrane;Endoplasmic reticulum;Mitochondrion 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Plays an important role in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking. May catalyze the remodeling of phosphatidylglycerol and be involved in the transacylation-acylation reaction to produce phosphatidylglycerol-36:1. May be involved in bis(monoacylglycerol)phosphate biosynthetic pathway. NA Belongs to the SERAC1 family. NA PE1 6 +NX_Q96JY0 Protein maelstrom homolog 434 49219 8.94 0 Cytoplasm;Nucleus NA Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with piP-bodies suggests a participation in the secondary piRNAs metabolic process. Required for the localization of germ-cell factors to the meiotic nuage (By similarity). NA Belongs to the maelstrom family. PIWI-interacting RNA (piRNA) biogenesis PE1 1 +NX_Q96JY6 PDZ and LIM domain protein 2 352 37459 9 0 Cytoplasm;Focal adhesion;Nucleus;Cytoskeleton NA Probable adapter protein located at the actin cytoskeleton that promotes cell attachment. Necessary for the migratory capacity of epithelial cells. Overexpression enhances cell adhesion to collagen and fibronectin and suppresses anchorage independent growth. May contribute to tumor cell migratory capacity. NA NA NA PE1 8 +NX_Q96JZ2 Hematopoietic SH2 domain-containing protein 352 39002 6.64 0 Cytoplasm;Cell membrane;Focal adhesion;Cytosol;Nucleus NA May be a modulator of the apoptotic response through its ability to affect mitochondrial stability (By similarity). Adapter protein involved in tyrosine kinase and CD28 signaling. Seems to affect CD28-mediated activation of the RE/AP element of the interleukin-2 promoter. May be phosphorylated by FES and ACK1. NA NA PE1 19 +NX_Q96K12 Fatty acyl-CoA reductase 2 515 59438 9.44 1 Golgi apparatus;Peroxisome membrane;Nucleolus NA Catalyzes the reduction of saturated but not unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols. A lower activity can be observed with shorter fatty acyl-CoA substrates (PubMed:15220348). It may play a role in the production of ether lipids/plasmalogens and wax monoesters which synthesis requires fatty alcohols as substrates (By similarity). NA Belongs to the fatty acyl-CoA reductase family. Peroxisome;Wax biosynthesis PE1 12 +NX_Q96K17 Transcription factor BTF3 homolog 4 158 17271 5.95 0 Nucleoplasm;Cytosol NA NA NA Belongs to the NAC-beta family. NA PE1 1 +NX_Q96K19 E3 ubiquitin-protein ligase RNF170 258 29815 5.34 3 Endoplasmic reticulum;Endoplasmic reticulum membrane Ataxia, sensory, 1, autosomal dominant E3 ubiquitin-protein ligase that plays an essential role in stimulus-induced inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) ubiquitination and degradation via the endoplasmic reticulum-associated degradation (ERAD) pathway. Also involved in ITPR1 turnover in resting cells. NA NA Protein modification; protein ubiquitination. PE1 8 +NX_Q96K21 Abscission/NoCut checkpoint regulator 471 51546 5.57 0 Centrosome;Cleavage furrow;Midbody ring NA Key regulator of abscission step in cytokinesis: part of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage. Together with CHMP4C, required to retain abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis. Deactivation of AURKB results in dephosphorylation of CHMP4C followed by its dissociation from ZFYVE19/ANCHR and VPS4 and subsequent abscission. NA NA NA PE1 15 +NX_Q96K30 RBPJ-interacting and tubulin-associated protein 1 269 28619 11.07 0 Nucleoplasm;Cytoplasm;Centrosome;Nucleus NA Tubulin-binding protein that acts as a negative regulator of Notch signaling pathway. Shuttles between the cytoplasm and the nucleus and mediates the nuclear export of RBPJ/RBPSUH, thereby preventing the interaction between RBPJ/RBPSUH and NICD product of Notch proteins (Notch intracellular domain), leading to down-regulate Notch-mediated transcription. May play a role in neurogenesis. NA Belongs to the RITA family. NA PE1 12 +NX_Q96K31 Uncharacterized protein C8orf76 380 43273 5.31 0 NA NA NA NA NA NA PE1 8 +NX_Q96K37 Solute carrier family 35 member E1 410 44773 9.82 9 Membrane;Golgi apparatus NA Putative transporter. NA Belongs to the TPT transporter family. SLC35E subfamily. NA PE1 19 +NX_Q96K49 Transmembrane protein 87B 555 63536 7.16 7 Cytoplasmic vesicle;Golgi apparatus;Golgi apparatus membrane NA May be involved in retrograde transport from endosomes to the trans-Golgi network (TGN). NA Belongs to the LU7TM family. TMEM87 subfamily. NA PE1 2 +NX_Q96K58 Zinc finger protein 668 619 67890 9.2 0 Nucleoplasm;Nucleus;Nucleolus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_Q96K62 Zinc finger and BTB domain-containing protein 45 511 54008 6.44 0 Cytosol;Nucleus NA May be involved in transcriptional regulation (Probable). In the central nervous system, may play a role in glial cell differentiation (By similarity). NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q96K75 Zinc finger protein 514 400 45938 9.13 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 2 +NX_Q96K76 Ubiquitin carboxyl-terminal hydrolase 47 1375 157311 4.97 0 Cytoplasm NA Ubiquitin-specific protease that specifically deubiquitinates monoubiquitinated DNA polymerase beta (POLB), stabilizing POLB thereby playing a role in base-excision repair (BER). Acts as a regulator of cell growth and genome integrity. May also indirectly regulate CDC25A expression at a transcriptional level. NA Belongs to the peptidase C19 family. Ub-specific processing proteases PE1 11 +NX_Q96K78 Adhesion G-protein coupled receptor G7 797 88909 8.77 7 Membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE1 3 +NX_Q96K80 Zinc finger CCCH domain-containing protein 10 434 46052 7.58 0 Cytoplasmic vesicle;Nucleus NA Specific regulator of miRNA biogenesis. Binds, via the C3H1-type zinc finger domains, to the binding motif 5'-GCAGCGC-3' on microRNA pri-MIR143 and negatively regulates the processing to mature microRNA. NA NA NA PE1 12 +NX_Q96K83 Zinc finger protein 521 1311 147866 6.56 0 Nucleoplasm;Nucleus NA Transcription factor that can both act as an activator or a repressor depending on the context. Involved in BMP signaling and in the regulation of the immature compartment of the hematopoietic system. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved specification of B-cell lineage; this interaction preventing EBF1 to bind DNA and activate target genes. NA Belongs to the krueppel C2H2-type zinc-finger protein family. RUNX2 regulates osteoblast differentiation PE1 18 +NX_Q96KA5 Cleft lip and palate transmembrane protein 1-like protein 538 62229 8.71 6 Membrane;Endoplasmic reticulum NA Enhances cisplatin-mediated apoptosis, when overexpressed. NA Belongs to the CLPTM1 family. NA PE1 5 +NX_Q96KB5 Lymphokine-activated killer T-cell-originated protein kinase 322 36085 4.98 0 Cytosol NA Phosphorylates MAP kinase p38. Seems to be active only in mitosis. May also play a role in the activation of lymphoid cells. When phosphorylated, forms a complex with TP53, leading to TP53 destabilization and attenuation of G2/M checkpoint during doxorubicin-induced DNA damage. Phosphorylated; in a cell-cycle dependent manner at mitosis. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. NA PE1 8 +NX_Q96KC2 ADP-ribosylation factor-like protein 5B 179 20375 6.06 0 NA NA Binds and exchanges GTP and GDP. NA Belongs to the small GTPase superfamily. Arf family. NA PE1 10 +NX_Q96KC8 DnaJ homolog subfamily C member 1 554 63883 8.77 1 Microsome membrane;Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus membrane NA May modulate protein synthesis. NA NA Protein processing in endoplasmic reticulum PE1 10 +NX_Q96KC9 Calcium-binding and spermatid-specific protein 1 395 43003 4.07 0 Cytoplasm;Mitochondrion;Flagellum NA NA NA NA NA PE1 4 +NX_Q96KD3 Protein FAM71F1 344 38946 9.51 0 Cytosol NA NA NA Belongs to the FAM71 family. NA PE2 7 +NX_Q96KE9 BTB/POZ domain-containing protein 6 485 53411 5.87 0 Cytoplasm;Nucleoplasm NA Adapter protein for the cul3 E3 ubiquitin-protein ligase complex (By similarity). Involved in late neuronal development and muscle formation (By similarity). NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 14 +NX_Q96KF2 Small nuclear protein PRAC1 57 5959 9.9 0 Nucleoplasm;Cytosol;Nucleus NA NA NA NA NA PE2 17 +NX_Q96KF7 Small integral membrane protein 8 97 11059 9.3 1 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the SMIM8 family. NA PE1 6 +NX_Q96KG7 Multiple epidermal growth factor-like domains protein 10 1140 122205 6.5 1 Phagocytic cup;Cell membrane Myopathy, early-onset, areflexia, respiratory distress, and dysphagia Membrane receptor involved in phagocytosis by macrophages and astrocytes of apoptotic cells. Receptor for C1q, an eat-me signal, that binds phosphatidylserine expressed on the surface of apoptotic cells (PubMed:27170117). Cooperates with ABCA1 within the process of engulfment. Promotes the formation of large intracellular vacuoles and may be responsible for the uptake of amyloid-beta peptides (PubMed:20828568, PubMed:17643423). Necessary for astrocyte-dependent apoptotic neuron clearance in the developing cerebellum (PubMed:27170117). Plays role in muscle cell proliferation, adhesion and motility. Is also an essential factor in the regulation of myogenesis. Controls the balance between skeletal muscle satellite cells proliferation and differentiation through regulation of the notch signaling pathway (PubMed:28498977, Ref.14). May also function in the mosaic spacing of specific neuron subtypes in the retina through homotypic retinal neuron repulsion. Mosaics provide a mechanism to distribute each cell type evenly across the retina, ensuring that all parts of the visual field have access to a full set of processing elements (PubMed:17498693, PubMed:17643423, PubMed:20828568, PubMed:22101682, PubMed:27170117, PubMed:28498977). Ubiquitinated; mono- and polyubiquitinated forms are detected.;Phosphorylated on tyrosine residues. Phosphorylation at Tyr-1030 may be important for muscle cell proliferation. Belongs to the MEGF family. NA PE1 5 +NX_Q96KG9 N-terminal kinase-like protein 808 89631 5.93 0 Cytoplasm;Endoplasmic reticulum-Golgi intermediate compartment;Centrosome;cis-Golgi network;Cytosol;Nucleus Spinocerebellar ataxia, autosomal recessive, 21 Acts as transcriptional activator. It binds to three different types of GC-rich DNA binding sites (box-A, -B and -C) in the beta-polymerase promoter region. It also binds to the TERT promoter region.;Regulates COPI-mediated retrograde protein traffic at the interface between the Golgi apparatus and the endoplasmic reticulum (PubMed:18556652). Involved in the maintenance of the Golgi apparatus morphology (PubMed:26581903). Has no detectable kinase activity in vitro (PubMed:18556652). NA Belongs to the protein kinase superfamily. NA PE1 11 +NX_Q96KH6 Uncharacterized protein C18orf12 178 19680 6.12 0 NA NA NA NA NA NA PE2 18 +NX_Q96KJ4 Mesothelin-like protein 702 74540 6.71 1 Membrane NA May play a role in cellular adhesion. NA Belongs to the mesothelin family. NA PE2 16 +NX_Q96KJ9 Cytochrome c oxidase subunit 4 isoform 2, mitochondrial 171 20010 9.65 0 Mitochondrion inner membrane Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. NA Belongs to the cytochrome c oxidase IV family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease PE1 20 +NX_Q96KK3 Potassium voltage-gated channel subfamily S member 1 526 58372 6.71 6 Cell membrane NA Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1 and KCNB2; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 and KCNB2 (PubMed:10484328). NA Belongs to the potassium channel family. S (TC 1.A.1.2) subfamily. Kv9.1/KCNS1 sub-subfamily. Voltage gated Potassium channels PE1 20 +NX_Q96KK4 Olfactory receptor 10C1 312 34384 8.64 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 6 +NX_Q96KK5 Histone H2A type 1-H 128 13906 10.88 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Deiminated on Arg-4 in granulocytes upon calcium entry.;Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.;Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239).;Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of 'Lys-27' of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and 'Lys-63'-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend 'Lys-63'-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). H2AK119Ub and ionizing radiation-induced 'Lys-63'-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events.;Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes. Belongs to the histone H2A family. Systemic lupus erythematosus;RMTs methylate histone arginines;HATs acetylate histones;HDACs deacetylate histones;UCH proteinases;Ub-specific processing proteases;Metalloprotease DUBs PE1 6 +NX_Q96KM6 Zinc finger protein 512B 892 97264 9.87 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 20 +NX_Q96KN1 Protein LRATD2 310 34474 5.34 0 Nucleoplasm NA NA NA Belongs to the LRATD family. NA PE1 8 +NX_Q96KN2 Beta-Ala-His dipeptidase 507 56706 5.14 0 Secreted NA NA NA Belongs to the peptidase M20A family. Arginine and proline metabolism;Histidine metabolism;beta-Alanine metabolism;Metabolic pathways PE1 18 +NX_Q96KN3 Homeobox protein PKNOX2 472 52028 4.76 0 Nucleoplasm;Nucleus;Cytoskeleton NA NA NA Belongs to the TALE/MEIS homeobox family. NA PE1 11 +NX_Q96KN4 Protein LRATD1 292 32491 5.46 0 Nucleoplasm;Cytoplasm NA May play a role in cell morphology and motility. NA Belongs to the LRATD family. NA PE1 2 +NX_Q96KN7 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 1286 146682 5.47 0 Cilium Cone-rod dystrophy 13;Leber congenital amaurosis 6 May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells. NA Belongs to the RPGRIP1 family. NA PE1 14 +NX_Q96KN8 Phospholipase A and acyltransferase 5 279 30312 8.33 0 Cell membrane NA Exhibits both phospholipase A1/2 and acyltransferase activities (PubMed:22825852, PubMed:26503625). Shows phospholipase A1 (PLA1) and A2 (PLA2) activity, catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids (PubMed:22825852). Shows N-acyltransferase activity, catalyzing the calcium-independent transfer of a fatty acyl group at the sn-1 position of phosphatidylcholine (PC) and other glycerophospholipids to the primary amine of phosphatidylethanolamine (PE), forming N-acylphosphatidylethanolamine (NAPE), which serves as precursor for N-acylethanolamines (NAEs) (PubMed:19000777, PubMed:22825852). NA Belongs to the H-rev107 family. Acyl chain remodelling of PE PE1 11 +NX_Q96KN9 Gap junction delta-4 protein 370 40140 9.26 4 Gap junction;Cell membrane NA One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. NA Belongs to the connexin family. Delta-type subfamily. Gap junction assembly PE2 10 +NX_Q96KP1 Exocyst complex component 2 924 104066 6.46 0 Cytoplasmic vesicle;Midbody ring NA Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. NA Belongs to the SEC5 family. Translocation of SLC2A4 (GLUT4) to the plasma membrane;Insulin processing;VxPx cargo-targeting to cilium PE1 6 +NX_Q96KP4 Cytosolic non-specific dipeptidase 475 52878 5.66 0 Nucleoplasm;Cytosol;Cytoplasm NA Hydrolyzes a variety of dipeptides including L-carnosine but has a strong preference for Cys-Gly (PubMed:19346245). Acts as a functional tumor suppressor in gastric cancer via activation of the mitogen-activated protein kinase (MAPK) pathway. An elevated level of CNDP2 activates the p38 and JNK MAPK pathways to induce cell apoptosis, and a lower level of CNDP2 activates the ERK MAPK pathway to promote cell proliferation (PubMed:24395568).;May play a role as tumor suppressor in hepatocellular carcinoma (HCC) cells (PubMed:17121880). Catalyzes the production of N-lactoyl-amino acids from lactate and amino acids by reverse proteolysis (PubMed:25964343). NA Belongs to the peptidase M20A family. Arginine and proline metabolism;Histidine metabolism;beta-Alanine metabolism;Metabolic pathways;Glutathione synthesis and recycling PE1 18 +NX_Q96KP6 TNFAIP3-interacting protein 3 325 38943 7.56 0 NA NA Binds to zinc finger protein TNFAIP3 and inhibits NF-kappa-B activation induced by tumor necrosis factor, Toll-like receptor 4 (TLR4), interleukin-1 and 12-O-tetradecanoylphorbol-13-acetate. Overexpression inhibits NF-kappa-B-dependent gene expression in response to lipopolysaccharide at a level downstream of TRAF6 and upstream of IKBKB. NF-kappa-B inhibition is independent of TNFAIP3 binding. NA NA Ovarian tumor domain proteases PE1 4 +NX_Q96KQ4 Apoptosis-stimulating of p53 protein 1 1090 119565 6.33 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Regulator that plays a central role in regulation of apoptosis via its interaction with p53/TP53 (PubMed:11684014, PubMed:12524540). Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo. PPP1R13B is phosphorylated by LATS2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the ASPP family. Activation of PUMA and translocation to mitochondria;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;TP53 Regulates Transcription of Death Receptors and Ligands;TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain;Regulation of TP53 Activity through Association with Co-factors PE1 14 +NX_Q96KQ7 Histone-lysine N-methyltransferase EHMT2 1210 132370 5.3 0 Nucleoplasm;Nucleus speckle;Nucleus;Chromosome NA Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also mediates monomethylation of 'Lys-56' of histone H3 (H3K56me1) in G1 phase, leading to promote interaction between histone H3 and PCNA and regulating DNA replication. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. May also methylate histone H1. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53. Also methylates CDYL, WIZ, ACIN1, DNMT1, HDAC1, ERCC6, KLF12 and itself. Methylated at Lys-185; automethylated. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar3-9 subfamily. Lysine degradation;PKMTs methylate histone lysines;RNA Polymerase I Transcription Initiation;Senescence-Associated Secretory Phenotype (SASP);ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Regulation of TP53 Activity through Methylation;Transcriptional Regulation by E2F6 PE1 6 +NX_Q96KR1 Zinc finger RNA-binding protein 1074 117012 9.17 0 Cytoplasm;Chromosome;Nucleoplasm;Cytoplasmic granule;Nucleus NA Involved in postimplantation and gastrulation stages of development. Involved in the nucleocytoplasmic shuttling of STAU2. Binds to DNA and RNA (By similarity). NA NA NA PE1 5 +NX_Q96KR4 Leishmanolysin-like peptidase 655 73568 6.5 0 Cytoplasm;Cytosol;Focal adhesion;Lipid droplet NA Metalloprotease. NA Belongs to the peptidase M8 family. NA PE1 3 +NX_Q96KR6 Protein FAM210B, mitochondrial 192 20424 10.45 2 Mitochondrion outer membrane;Cytosol;Mitochondrion;Cell membrane NA Plays a role in erythroid differentiation (PubMed:26968549). Involved in cell proliferation and tumor cell growth suppression (PubMed:28594398). Involved in the metabolic reprogramming of cancer cells in a PDK4-dependent manner (PubMed:28594398). NA Belongs to the FAM210 family. NA PE1 20 +NX_Q96KR7 Phosphatase and actin regulator 3 559 62552 9.27 0 Nucleoplasm;Nucleus matrix NA NA NA Belongs to the phosphatase and actin regulator family. NA PE1 20 +NX_Q96KS0 Egl nine homolog 2 407 43650 8.18 0 Nucleoplasm;Nucleus NA Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF2A. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN2 is involved in regulating hypoxia tolerance and apoptosis in cardiac and skeletal muscle. Also regulates susceptibility to normoxic oxidative neuronal death. Links oxygen sensing to cell cycle and primary cilia formation by hydroxylating the critical centrosome component CEP192 which promotes its ubiquitination and subsequent proteasomal degradation. Hydroxylates IKBKB, mediating NF-kappaB activation in hypoxic conditions. Target proteins are preferentially recognized via a LXXLAP motif. NA NA Pathways in cancer;Renal cell carcinoma;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha PE1 19 +NX_Q96KS9 Protein FAM167A 214 24182 5.93 0 Mitochondrion NA NA NA Belongs to the FAM167 (SEC) family. NA PE1 8 +NX_Q96KT0 Uncharacterized protein FAM167A-AS1 104 11632 9.8 0 NA NA NA NA NA NA PE4 8 +NX_Q96KT6 Putative uncharacterized protein encoded by LINC00208 92 9816 8.81 0 NA NA NA NA NA NA PE5 8 +NX_Q96KT7 Solute carrier family 35 member G5 338 35161 6.68 9 Membrane NA NA NA Belongs to the SLC35G solute transporter family. NA PE2 8 +NX_Q96KV6 Putative butyrophilin subfamily 2 member A3 586 65713 5.48 1 Membrane NA NA NA Belongs to the immunoglobulin superfamily. BTN/MOG family. NA PE5 6 +NX_Q96KV7 WD repeat-containing protein 90 1748 187437 6.56 0 Nucleus speckle;Centriole NA Required for efficient primary cilium formation. NA Belongs to the WD repeat WDR90/POC16 family. NA PE1 16 +NX_Q96KW2 POM121-like protein 2 1035 109912 9.92 0 NA NA NA NA Belongs to the POM121 family. NA PE1 6 +NX_Q96KW9 Sperm acrosome-associated protein 7 195 21466 4.71 0 Secreted;Acrosome lumen;Acrosome NA Involved in fertilization. Seems not to play a direct role in sperm-egg binding or gamete fusion. NA NA NA PE1 13 +NX_Q96KX0 Lysozyme-like protein 4 146 16433 8.6 0 Acrosome;Secreted;Flagellum NA May be involved in fertilization (By similarity). Has no detectable bacteriolytic and lysozyme activities in vitro (By similarity). NA Belongs to the glycosyl hydrolase 22 family. NA PE1 3 +NX_Q96KX1 Uncharacterized protein C4orf36 117 13276 9.54 0 Focal adhesion NA NA NA NA NA PE2 4 +NX_Q96KX2 F-actin-capping protein subunit alpha-3 299 35025 7.61 0 NA NA F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. May play a role in the morphogenesis of spermatid (By similarity). NA Belongs to the F-actin-capping protein alpha subunit family. MHC class II antigen presentation;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 12 +NX_Q96L03 Spermatogenesis-associated protein 17 361 43499 9.87 0 Nucleoplasm;Cytoplasm;Nucleolus NA NA NA NA NA PE1 1 +NX_Q96L08 Sushi domain-containing protein 3 255 27119 10.24 1 Nucleoplasm;Cell membrane NA May play a role in breast tumorigenesis by promoting estrogen-dependent cell proliferation, cell-cell interactions and migration. NA NA NA PE1 9 +NX_Q96L11 LLLL and CFNLAS motif-containing protein 1 122 13527 5.89 0 Secreted NA NA NA NA NA PE2 7 +NX_Q96L12 Calreticulin-3 384 44996 6.19 0 Endoplasmic reticulum lumen NA During spermatogenesis, may act as a lectin-independent chaperone for specific client proteins such as ADAM3. Required for sperm fertility (By similarity). CALR3 capacity for calcium-binding may be absent or much lower than that of CALR. NA Belongs to the calreticulin family. NA PE1 19 +NX_Q96L14 Cep170-like protein 293 32648 5.45 0 NA NA NA NA Belongs to the CEP170 family. NA PE5 4 +NX_Q96L15 Ecto-ADP-ribosyltransferase 5 291 32054 8.52 0 Secreted NA NA NA Belongs to the Arg-specific ADP-ribosyltransferase family. NA PE1 11 +NX_Q96L21 60S ribosomal protein L10-like 214 24519 10.03 0 Nucleus NA May play a role in compensating for the inactivated X-linked gene during spermatogenesis. NA Belongs to the universal ribosomal protein uL16 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 14 +NX_Q96L33 Rho-related GTP-binding protein RhoV 236 26217 8.36 0 Cell membrane;Endosome membrane NA Plays a role in the control of the actin cytoskeleton via activation of the JNK pathway. NA Belongs to the small GTPase superfamily. Rho family. Rho GTPase cycle PE1 15 +NX_Q96L34 MAP/microtubule affinity-regulating kinase 4 752 82520 9.7 0 Cytoplasm;Microtubule organizing center;Cilium basal body;Centrosome;Cilium axoneme;Cytosol;Dendrite NA Serine/threonine-protein kinase (PubMed:15009667, PubMed:14594945, PubMed:23666762, PubMed:23184942). Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:14594945, PubMed:23666762). Also phosphorylates the microtubule-associated proteins MAP2 and MAP4 (PubMed:14594945). Involved in regulation of the microtubule network, causing reorganization of microtubules into bundles (PubMed:14594945, PubMed:25123532). Required for the initiation of axoneme extension during cilium assembly (PubMed:23400999). Regulates the centrosomal location of ODF2 and phosphorylates ODF2 in vitro (PubMed:23400999). Plays a role in cell cycle progression, specifically in the G1/S checkpoint (PubMed:25123532). Reduces neuronal cell survival (PubMed:15009667). Plays a role in energy homeostasis by regulating satiety and metabolic rate (By similarity). Promotes adipogenesis by activating JNK1 and inhibiting the p38MAPK pathway, and triggers apoptosis by activating the JNK1 pathway (By similarity). Phosphorylates mTORC1 complex member RPTOR and acts as a negative regulator of the mTORC1 complex, probably due to disruption of the interaction between phosphorylated RPTOR and the RRAGA/RRAGC heterodimer which is required for mTORC1 activation (PubMed:23184942). Ubiquitinated with 'Lys-29'- and 'Lys-33'-linked polyubiquitins which appear to impede LKB1-mediated phosphorylation. Deubiquitinated by USP9X.;Phosphorylated at Thr-214 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39 (PubMed:14976552). Phosphorylated throughout the cell cycle (PubMed:25123532). Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily. Anchoring of the basal body to the plasma membrane PE1 19 +NX_Q96L42 Potassium voltage-gated channel subfamily H member 8 1107 123804 6.46 6 Membrane;Cell membrane NA Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly. NA Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.1/KCNH8 sub-subfamily. Voltage gated Potassium channels PE1 3 +NX_Q96L46 Calpain small subunit 2 248 27660 5.51 0 Cytoplasm;Cytosol;Cell membrane NA Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. This small subunit may act as a tissue-specific chaperone of the large subunit, possibly by helping it fold into its correct conformation for activity. NA NA Degradation of the extracellular matrix;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models PE1 16 +NX_Q96L50 Leucine-rich repeat protein 1 414 46723 9.27 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus membrane NA May negatively regulate the 4-1BB-mediated signaling cascades which result in the activation of NK-kappaB and JNK1. Probable substrate recognition subunit of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 14 +NX_Q96L58 Beta-1,3-galactosyltransferase 6 329 37138 9.72 1 Golgi stack membrane Ehlers-Danlos syndrome, spondylodysplastic type, 2;Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues. NA Belongs to the glycosyltransferase 31 family. Glycan metabolism; heparan sulfate biosynthesis.;Glycan metabolism; chondroitin sulfate biosynthesis.;Glycosaminoglycan biosynthesis - chondroitin sulfate;Glycosaminoglycan biosynthesis - heparan sulfate;Metabolic pathways;A tetrasaccharide linker sequence is required for GAG synthesis;Defective B3GALT6 causes EDSP2 and SEMDJL1 PE1 1 +NX_Q96L73 Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific 2696 296652 8.4 0 Nucleoplasm;Chromosome;Nucleus;Cell membrane Beckwith-Wiedemann syndrome;Sotos syndrome 1 Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Lysine degradation;PKMTs methylate histone lysines PE1 5 +NX_Q96L91 E1A-binding protein p400 3159 343489 9.27 0 Nucleoplasm;Nucleus NA Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. May be required for transcriptional activation of E2F1 and MYC target genes during cellular proliferation. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. May regulate ZNF42 transcription activity. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome. NA Belongs to the SNF2/RAD54 helicase family. SWR1 subfamily. HATs acetylate histones;Formation of Senescence-Associated Heterochromatin Foci (SAHF);DNA Damage/Telomere Stress Induced Senescence PE1 12 +NX_Q96L92 Sorting nexin-27 541 61265 6.06 0 Early endosome membrane;Nucleoplasm;Cytosol NA Involved in the retrograde transport from endosome to plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. Following internalization, endocytosed transmembrane proteins are delivered to early endosomes and recycled to the plasma membrane instead of being degraded in lysosomes. SNX27 specifically binds and directs sorting of a subset of transmembrane proteins containing a PDZ-binding motif at the C-terminus: following interaction with target transmembrane proteins, associates with the retromer complex, preventing entry into the lysosomal pathway, and promotes retromer-tubule based plasma membrane recycling. SNX27 also binds with the WASH complex. Interacts with membranes containing phosphatidylinositol-3-phosphate (PtdIns(3P)). May participate in establishment of natural killer cell polarity. Recruits CYTIP to early endosomes. NA Belongs to the sorting nexin family. NA PE1 1 +NX_Q96L93 Kinesin-like protein KIF16B 1317 152011 5.86 0 Early endosome membrane;Mitochondrion;Cytoskeleton NA Plus end-directed microtubule-dependent motor protein involved in endosome transport and receptor recycling and degradation. Regulates the plus end motility of early endosomes and the balance between recycling and degradation of receptors such as EGF receptor (EGFR) and FGF receptor (FGFR). Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 20 +NX_Q96L94 Sorting nexin-22 193 22068 9.6 0 Cytoplasmic vesicle membrane;Nucleoplasm;Cytoplasmic vesicle NA May be involved in several stages of intracellular trafficking (By similarity). Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)). NA Belongs to the sorting nexin family. NA PE1 15 +NX_Q96L96 Alpha-protein kinase 3 1907 201272 7.73 0 Nucleoplasm;Nucleus Cardiomyopathy, familial hypertrophic 27 Involved in cardiomyocyte differentiation. NA Belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily. NA PE1 15 +NX_Q96LA5 Fc receptor-like protein 2 508 55542 5.98 1 Cell membrane NA May have an regulatory role in normal and neoplastic B cell development. Is N- and O-glycosylated, and phosphorylated. NA NA PE1 1 +NX_Q96LA6 Fc receptor-like protein 1 429 46936 5.32 1 Cell membrane NA May function as an activating coreceptor in B-cells. May function in B-cells activation and differentiation. Phosphorylated on tyrosines upon activation. NA NA PE1 1 +NX_Q96LA8 Protein arginine N-methyltransferase 6 375 41938 5.32 0 Nucleoplasm;Nucleolus;Nucleus NA Arginine methyltransferase that can catalyze the formation of both omega-N monomethylarginine (MMA) and asymmetrical dimethylarginine (aDMA), with a strong preference for the formation of aDMA (PubMed:17898714, PubMed:18077460, PubMed:18079182, PubMed:19405910). Preferentially methylates arginyl residues present in a glycine and arginine-rich domain and displays preference for monomethylated substrates (PubMed:17898714, PubMed:18077460, PubMed:18079182, PubMed:19405910). Specifically mediates the asymmetric dimethylation of histone H3 'Arg-2' to form H3R2me2a (PubMed:17898714, PubMed:18079182, PubMed:18077460). H3R2me2a represents a specific tag for epigenetic transcriptional repression and is mutually exclusive with methylation on histone H3 'Lys-4' (H3K4me2 and H3K4me3) (PubMed:17898714, PubMed:18077460). Acts as a transcriptional repressor of various genes such as HOXA2, THBS1 and TP53 (PubMed:19509293). Repression of TP53 blocks cellular senescence (By similarity). Also methylates histone H2A and H4 'Arg-3' (H2AR3me and H4R3me, respectively). Acts as a regulator of DNA base excision during DNA repair by mediating the methylation of DNA polymerase beta (POLB), leading to the stimulation of its polymerase activity by enhancing DNA binding and processivity (PubMed:16600869). Methylates HMGA1 (PubMed:16157300, PubMed:16159886). Regulates alternative splicing events. Acts as a transcriptional coactivator of a number of steroid hormone receptors including ESR1, ESR2, PGR and NR3C1. Promotes fasting-induced transcriptional activation of the gluconeogenic program through methylation of the CRTC2 transcription coactivator. May play a role in innate immunity against HIV-1 in case of infection by methylating and impairing the function of various HIV-1 proteins such as Tat, Rev and Nucleocapsid protein p7 (NC) (PubMed:17267505). Methylates GPS2, protecting GPS2 from ubiquitination and degradation (By similarity). Automethylation enhances its stability and antiretroviral activity. Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family. PRMT6 subfamily. RMTs methylate histone arginines;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 1 +NX_Q96LA9 Mas-related G-protein coupled receptor member X4 322 36461 9 7 Cell membrane NA Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Potently activated by enkephalins (By similarity). NA Belongs to the G-protein coupled receptor 1 family. Mas subfamily. NA PE2 11 +NX_Q96LB0 Mas-related G-protein coupled receptor member X3 322 36483 8.79 7 Cell membrane NA Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Potently activated by enkephalins (By similarity). NA Belongs to the G-protein coupled receptor 1 family. Mas subfamily. NA PE2 11 +NX_Q96LB1 Mas-related G-protein coupled receptor member X2 330 37099 8.36 7 Cell membrane NA Mast cell-specific receptor for basic secretagogues, i.e. Cationic amphiphilic drugs, as well as endo- or exogenous peptides, consisting of a basic head group and a hydrophobic core (PubMed:25517090). Recognizes and binds small molecules containing a cyclized tetrahydroisoquinoline (THIQ), such as non-steroidal neuromuscular blocking drugs (NMBDs), including tubocurarine and atracurium. In response to these compounds, mediates pseudo-allergic reactions characterized by histamine release, inflammation and airway contraction (By similarity). Acts as a receptor for a number of other ligands, including peptides and alkaloids, such as cortistatin-14, proadrenomedullin N-terminal peptides PAMP-12 and, at lower extent, PAMP-20, antibacterial protein LL-37, PMX-53 peptide, beta-defensins, and complanadine A. NA Belongs to the G-protein coupled receptor 1 family. Mas subfamily. NA PE1 11 +NX_Q96LB2 Mas-related G-protein coupled receptor member X1 322 36250 7.5 7 Cell membrane NA Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Potently activated by enkephalins including BAM22 (bovine adrenal medulla peptide 22) and BAM (8-22)(PubMed:26582731). BAM22 is the most potent compound and evoked a large and dose-dependent release of intracellular calcium in stably transfected cells. G(alpha)q proteins are involved in the calcium-signaling pathway. Activated by the antimalarial drug, chloroquine. May mediate chloroquine-induced itch, in a histamine-independent manner. NA Belongs to the G-protein coupled receptor 1 family. Mas subfamily. NA PE1 11 +NX_Q96LB3 Intraflagellar transport protein 74 homolog 600 69239 5.73 0 Golgi apparatus;Cilium;Cytoplasmic vesicle Bardet-Biedl syndrome 20 Component of the intraflagellar transport (IFT) complex B: together with IFT81, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds beta-tubulin via its basic region. Required for ciliogenesis. NA Belongs to the IFT74 family. Intraflagellar transport PE1 9 +NX_Q96LB4 V-type proton ATPase subunit G 3 118 13917 9.16 0 NA NA Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. NA Belongs to the V-ATPase G subunit family. Oxidative phosphorylation;Metabolic pathways;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE1 1 +NX_Q96LB8 Peptidoglycan recognition protein 4 373 40620 7.2 0 Cytoplasmic vesicle;Secreted;Cell membrane NA Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Binds also to Gram-negative bacteria, and has bacteriostatic activity towards Gram-negative bacteria. Plays a role in innate immunity. N-glycosylated. Belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. Antimicrobial peptides PE1 1 +NX_Q96LB9 Peptidoglycan recognition protein 3 341 37611 6.48 0 Secreted NA Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Binds also to Gram-negative bacteria, and has bacteriostatic activity towards Gram-negative bacteria. Plays a role in innate immunity. N-glycosylated. Belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. Antimicrobial peptides PE1 1 +NX_Q96LC7 Sialic acid-binding Ig-like lectin 10 697 76592 8.69 1 Cytosol;Secreted;Cytoskeleton;Cell membrane NA Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- or alpha-2,6-linked sialic acid (By similarity). The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, seems to act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules (PubMed:11284738, PubMed:12163025). Involved in negative regulation of B-cell antigen receptor signaling. The inhibition of B cell activation is dependent on PTPN6/SHP-1 (By similarity). In association with CD24 may be involved in the selective suppression of the immune response to danger-associated molecular patterns (DAMPs) such as HMGB1, HSP70 and HSP90 (By similarity). In association with CD24 may regulate the immune repsonse of natural killer (NK) cells (PubMed:25450598). Plays a role in the control of autoimmunity (By similarity). During initiation of adaptive immune responses by CD8-alpha(+) dendritic cells inhibits cross-presentation by impairing the formation of MHC class I-peptide complexes. The function seems to implicate recruitment of PTPN6/SHP-1, which dephosphorylates NCF1 of the NADPH oxidase complex consequently promoting phagosomal acidification (By similarity). Phosphorylation of Tyr-667 is involved in binding to PTPN6. Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_Q96LC9 Bcl-2-modifying factor 184 20508 4.91 0 Nucleoplasm NA May play a role in apoptosis.;Seems to be the main initiator. BMF is phosphorylated by MAPK8 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the Bcl-2 family. BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members;Activation of BMF and translocation to mitochondria PE1 15 +NX_Q96LD1 Zeta-sarcoglycan 299 32949 7.59 1 Sarcolemma;Cytoskeleton NA Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. May play a role in the maintenance of striated muscle membrane stability (By similarity). NA Belongs to the sarcoglycan beta/delta/gamma/zeta family. NA PE1 8 +NX_Q96LD4 E3 ubiquitin-protein ligase TRIM47 638 69532 6.03 0 Cytoplasm;Cytosol;Nucleus NA E3 ubiquitin-protein ligase that mediates the ubiquitination and proteasomal degradation of CYLD. NA Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination. PE1 17 +NX_Q96LD8 Sentrin-specific protease 8 212 24107 5.6 0 Nucleoplasm;Cytoplasmic vesicle NA Protease that catalyzes two essential functions in the NEDD8 pathway: processing of full-length NEDD8 to its mature form and deconjugation of NEDD8 from targeted proteins such as cullins or p53. NA Belongs to the peptidase C48 family. UCH proteinases;Neddylation PE1 15 +NX_Q96LI5 CCR4-NOT transcription complex subunit 6-like 555 63001 6.26 0 Cytoplasm;Cytosol;Nucleus NA Has 3'-5' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate. Catalytic component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. May be involved in the deadenylation-dependent degradation of mRNAs through the 3'-UTR AU-rich element-mediated mechanism. Involved in deadenylation-dependent degradation of CDKN1B mRNA. Its mRNA deadenylase activity can be inhibited by TOB1. Mediates cell proliferation and cell survival and prevents cellular senescence. NA Belongs to the CCR4/nocturin family. RNA degradation;Deadenylation of mRNA;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 4 +NX_Q96LI6 Heat shock transcription factor, Y-linked 401 45107 6.68 0 Cytoplasm;Nucleus NA NA NA Belongs to the HSF family. NA PE1 Y +NX_Q96LI9 Putative uncharacterized protein CXorf58 332 38899 10.19 0 NA NA NA NA NA NA PE2 X +NX_Q96LJ7 Dehydrogenase/reductase SDR family member 1 313 33909 8.01 0 Endoplasmic reticulum;Nucleoplasm;Centrosome;Cytosol NA NA NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. NA PE1 14 +NX_Q96LJ8 UBX domain-containing protein 10 280 30811 8.87 0 Cilium NA VCP/p97-binding protein required for ciliogenesis (PubMed:26389662). Acts as a tethering factor that facilitates recruitment of VCP/p97 to the intraflagellar transport complex B (IFT-B) in cilia (PubMed:26389662). UBX domain-containing proteins act as tethering factors for VCP/p97 and may specify substrate specificity of VCP/p97 (PubMed:26389662). NA Belongs to the UBXN10 family. NA PE1 1 +NX_Q96LK0 Centrosomal protein of 19 kDa 163 19166 5.24 0 Spindle pole;Centrosome;Cilium basal body;Centriole Morbid obesity and spermatogenic failure Required for ciliation (PubMed:28625565, PubMed:28428259, PubMed:28659385). Recruits the RABL2B GTPase to the ciliary base to initiate ciliation. After specifically capturing the activated GTP-bound RABL2B, the CEP19-RABL2B complex binds intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia (PubMed:28625565, PubMed:28428259). Involved in the early steps in cilia formation by recruiting the ciliary vesicles (CVs) to the distal end of the mother centriole where they fuse to initiate cilium assembly. Involved in microtubule (MT) anchoring to the centrosomes (PubMed:28659385). NA Belongs to the CEP19 family. NA PE1 3 +NX_Q96LK8 Spermatogenesis-associated protein 32 384 42325 4.7 0 NA NA NA NA NA NA PE1 17 +NX_Q96LL3 Uncharacterized protein C16orf92 132 14383 9.23 1 Membrane NA NA NA NA NA PE2 16 +NX_Q96LL4 Uncharacterized protein C8orf48 319 36790 8.84 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 8 +NX_Q96LL9 DnaJ homolog subfamily C member 30, mitochondrial 226 25961 10.49 1 Mitochondrion inner membrane NA Mitochondrial protein enriched in neurons that acts as a regulator of mitochondrial respiration (By similarity). Associates with the ATP synthase complex and facilitates ATP synthesis (By similarity). NA NA NA PE1 7 +NX_Q96LM1 Putative uncharacterized protein encoded by LINC00615 132 14531 9.93 0 NA NA NA NA NA NA PE5 12 +NX_Q96LM5 Uncharacterized protein C4orf45 186 21723 9.97 0 NA NA NA NA NA NA PE1 4 +NX_Q96LM6 Testis-expressed sequence 37 protein 180 20615 7.14 0 Cytoplasm;Nucleus NA NA NA NA NA PE1 2 +NX_Q96LM9 Uncharacterized protein C20orf173 149 16552 6.25 0 NA NA NA NA NA NA PE2 20 +NX_Q96LP2 Protein FAM81B 452 52032 9.15 0 NA NA NA NA Belongs to the FAM81 family. NA PE1 5 +NX_Q96LP6 Uncharacterized protein C12orf42 360 39738 9.69 0 NA NA NA NA NA NA PE2 12 +NX_Q96LQ0 Protein phosphatase 1 regulatory subunit 36 422 49440 9.41 0 NA NA Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. NA NA NA PE1 14 +NX_Q96LR2 Leucine rich adaptor protein 1 239 25806 4.74 0 Cytoplasmic vesicle;Cytosol;Cytoplasm NA Acts as an activator of the canonical NF-kappa-B pathway and drive the production of proinflammatory cytokines. Promotes the antigen (Ag)-presenting and priming function of dendritic cells via the canonical NF-kappa-B pathway (PubMed:21048106). In concert with MYO18A and CDC42BPA/CDC42BPB, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration. Activates CDC42BPA/CDC42BPB and targets it to actomyosin through its interaction with MYO18A, leading to MYL9/MLC2 phosphorylation and MYH9/MYH10-dependent actomyosin assembly in the lamella (By similarity). NA NA NA PE1 1 +NX_Q96LR4 Chemokine-like protein TAFA-4 140 15682 9.24 0 Secreted NA Modulates injury-induced and chemical pain hypersensitivity (By similarity). Ligand of FPR1, can chemoattract macrophages, promote phagocytosis and increase ROS release (PubMed:25109685). NA Belongs to the TAFA family. NA PE1 3 +NX_Q96LR5 Ubiquitin-conjugating enzyme E2 E2 201 22255 7.59 0 Nucleoplasm NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. Catalyzes the ISGylation of influenza A virus NS1 protein. Autoubiquitinated in vitro. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;Antigen processing: Ubiquitination & Proteasome degradation PE1 3 +NX_Q96LR7 Uncharacterized protein C2orf50 162 17838 9.51 0 NA NA NA NA NA NA PE1 2 +NX_Q96LR9 Apolipoprotein L domain-containing protein 1 279 30546 10.45 3 Nucleoplasm;Cytosol;Cell membrane NA May be involved in angiogenesis. May play a role in activity-dependent changes of brain vasculature. May affect blood-brain permeability. NA Belongs to the apolipoprotein L family. NA PE2 12 +NX_Q96LS8 Uncharacterized protein C2orf48 159 17367 9.49 0 NA NA NA NA NA NA PE2 2 +NX_Q96LT4 Sphingomyelin synthase-related protein 1 415 48321 8.35 6 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Sphingomyelin synthases synthesize sphingolipids through transfer of a phosphatidyl head group on to the primary hydroxyl of ceramide. SAMD8 is an endoplasmic reticulum (ER) transferase that has no sphingomyelin synthase activity but can convert phosphatidylethanolamine (PE) and ceramide to ceramide phosphoethanolamine (CPE) albeit with low product yield. Appears to operate as a ceramide sensor to control ceramide homeostasis in the endoplasmic reticulum rather than a converter of ceramides. Seems to be critical for the integrity of the early secretory pathway. NA Belongs to the sphingomyelin synthase family. Sphingolipid de novo biosynthesis PE1 10 +NX_Q96LT6 UPF0739 protein C1orf74 269 29561 5.41 0 Cytosol;Cell membrane NA NA NA Belongs to the UPF0739 family. NA PE1 1 +NX_Q96LT7 Guanine nucleotide exchange C9orf72 481 54328 5.82 0 Cytoplasm;Stress granule;Perikaryon;Growth cone;Secreted;Nucleus membrane;Endosome;Autophagosome;P-body;Lysosome;Axon;Dendrite;Nucleus Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Regulates stress granule assembly in response to cellular stress.;Does not play a role in regulation of stress granule assembly in response to cellular stress.;Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531). In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:27103069). The C9orf72-SMCR8 complex also acts as a regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and modulating its protein kinase activity (PubMed:27617292). Positively regulates initiation of autophagy by regulating the RAB1A-dependent trafficking of the ATG1/ULK1 kinase complex to the phagophore which leads to autophagosome formation (PubMed:27334615). Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates (PubMed:27559131). Plays a role in endosomal trafficking (PubMed:24549040). May be involved in regulating the maturation of phagosomes to lysosomes (By similarity). Regulates actin dynamics in motor neurons by inhibiting the GTP-binding activity of ARF6, leading to ARF6 inactivation (PubMed:27723745). This reduces the activity of the LIMK1 and LIMK2 kinases which are responsible for phosphorylation and inactivation of cofilin, leading to cofilin activation (PubMed:27723745). Positively regulates axon extension and axon growth cone size in spinal motor neurons (PubMed:27723745). Plays a role within the hematopoietic system in restricting inflammation and the development of autoimmunity (By similarity). NA NA NA PE1 9 +NX_Q96LT9 RNA-binding region-containing protein 3 517 58575 7.61 0 Nucleoplasm;Nucleus Growth hormone deficiency, isolated, 5 Participates in pre-mRNA U12-dependent splicing, performed by the minor spliceosome which removes U12-type introns. U12-type introns comprises less than 1% of all non-coding sequences. Binds to the 3'-stem-loop of m(7)G-capped U12 snRNA. NA NA mRNA Splicing - Minor Pathway PE1 1 +NX_Q96LU5 Mitochondrial inner membrane protease subunit 1 166 18504 8.29 0 Mitochondrion inner membrane NA Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space. Known to process the nuclear encoded protein DIABLO. NA Belongs to the peptidase S26 family. IMP1 subfamily. Protein export PE1 11 +NX_Q96LU7 Myelin regulatory factor-like protein 910 101670 6.4 1 Membrane;Nucleolus NA NA NA Belongs to the MRF family. NA PE2 12 +NX_Q96LW1 Zinc finger protein 354B 612 70529 9.6 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 5 +NX_Q96LW2 Ribosomal protein S6 kinase-related protein 410 46191 6.87 0 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA NA NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. NA PE2 17 +NX_Q96LW4 DNA-directed primase/polymerase protein 560 64412 5.19 0 Cytoplasm;Mitochondrion matrix;Nucleoplasm;Cytosol;Nucleus Myopia 22, autosomal dominant DNA primase and DNA polymerase able to initiate de novo DNA synthesis using dNTPs. Shows a high capacity to tolerate DNA damage lesions such as 8oxoG and abasic sites in DNA. Involved in translesion synthesis via its primase activity by mediating uninterrupted fork progression after programmed or damage-induced fork arrest and by reinitiating DNA synthesis after dNTP depletion. Required for mitochondrial DNA (mtDNA) synthesis, suggesting it may be involved in DNA tolerance during the replication of mitochondrial DNA. Has non-overlapping function with POLH. NA Belongs to the eukaryotic-type primase small subunit family. NA PE1 4 +NX_Q96LW7 Caspase recruitment domain-containing protein 19 228 25589 9.43 0 Mitochondrion membrane;Endoplasmic reticulum membrane;Nucleus;Mitochondrion NA Plays a role in inhibiting the effects of BCL10-induced activation of NF-kappa-B. May inhibit the phosphorylation of BCL10 in a CARD-dependent manner. NA NA NA PE1 9 +NX_Q96LW9 Zinc finger and SCAN domain-containing protein 31 406 47293 6.42 0 Nucleoplasm;Cytosol;Nucleus NA May function as a transcription factor. May be involved in the development of multiple embryonic organs. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 6 +NX_Q96LX7 Coiled-coil domain-containing protein 17 622 67721 6.76 0 NA NA NA NA NA NA PE1 1 +NX_Q96LX8 Zinc finger protein 597 424 48076 6.29 0 Nucleoplasm;Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_Q96LY2 Coiled-coil domain-containing protein 74B 380 41826 10.46 0 NA NA NA NA NA NA PE2 2 +NX_Q96LZ2 Melanoma-associated antigen B10 347 38971 5.74 0 NA NA NA NA NA NA PE1 X +NX_Q96LZ3 Calcineurin subunit B type 2 170 19533 4.73 0 NA NA Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity. NA Belongs to the calcineurin regulatory subunit family. MAPK signaling pathway;Calcium signaling pathway;Oocyte meiosis;Apoptosis;Wnt signaling pathway;Axon guidance;VEGF signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Long-term potentiation;Glutamatergic synapse;Alzheimer's disease;Amyotrophic lateral sclerosis (ALS);Tuberculosis PE1 9 +NX_Q96LZ7 Regulator of microtubule dynamics protein 2 410 47399 6.12 1 Golgi apparatus;Cytoplasm;Membrane;Spindle pole;Cytosol;Spindle NA NA NA Belongs to the RMDN family. NA PE1 2 +NX_Q96M02 (E2-independent) E3 ubiquitin-conjugating enzyme FATS 699 77910 9.21 0 Cytoplasm;Cell membrane;Nucleoplasm;Centrosome;Cytosol NA Tumor suppressor that is required to sustain G2/M checkpoint after DNA damage. Acts as a p53/TP53 activator by inhibiting MDM2 binding to p53/TP53 and stimulating non-proteolytic polyubiquitination of p53/TP53. Exhibits ubiquitin ligase (E3) activity and assemble ubiquitin polymers through 'Lys-11'- (K11-), 'Lys-29'- (K29-) and 'Lys-63'- (K63)-linkages, independently of the ubiquitin-conjugating enzyme (E2). Promotes p53/TP53-dependent transcription of CDKN1A/p21, leading to robust checkpoint response. Mediates CDKN1A/p21 protein stability in a ubiquitin-independent manner. Interacts with HDAC1 and prevents binding of HDAC1 to CDKN1A/p21 and facilitates the acetylation and stabilization of CDKN1A/p21 (By similarity). May have a role in the assembly of primary cilia (Probable). NA NA NA PE1 10 +NX_Q96M11 Hydrolethalus syndrome protein 1 299 34359 6.98 0 Cytoplasm;Cell membrane;Centriole;Cilium;Centrosome;Cytosol Hydrolethalus syndrome 1 Plays a role in ciliogenesis. NA Belongs to the HYLS1 family. NA PE1 11 +NX_Q96M15 Putative uncharacterized protein IGF2BP2-AS1 143 15995 9.42 0 NA NA NA NA NA NA PE2 3 +NX_Q96M19 Putative transmembrane protein encoded by LINC00477 166 18185 10.52 3 Membrane NA NA NA NA NA PE5 12 +NX_Q96M20 Cyclic nucleotide-binding domain-containing protein 2 576 67512 9.33 0 Cytosol NA Essential for male fertility. Plays an important role in spermatogenesis and regulates sperm motility by controlling the development of the flagellar bending of sperm. NA NA NA PE1 20 +NX_Q96M27 Protein PRRC1 445 46701 5.56 0 Golgi apparatus;Cytoplasmic vesicle NA NA NA Belongs to the PRRC1 family. NA PE1 5 +NX_Q96M29 Tektin-5 485 56294 6.8 0 Cytoskeleton;Flagellum NA May be a structural component of the sperm flagellum. NA Belongs to the tektin family. NA PE1 16 +NX_Q96M32 Adenylate kinase 7 723 82658 4.67 0 Cytosol;Flagellum Spermatogenic failure 27 Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Also displays broad nucleoside diphosphate kinase activity. Involved in maintaining ciliary structure and function. NA In the central section; belongs to the adenylate kinase family.;In the C-terminal section; belongs to the dpy-30 family. Purine metabolism;Metabolic pathways;Interconversion of nucleotide di- and triphosphates PE1 14 +NX_Q96M34 Testis-specific expressed protein 55 536 60162 5.51 0 Nucleus NA NA NA NA NA PE1 3 +NX_Q96M42 Putative uncharacterized protein encoded by LINC00479 142 15208 8.28 0 NA NA NA NA NA NA PE5 21 +NX_Q96M43 Neuroblastoma breakpoint family member 4 638 72053 4.83 0 Cytoplasm NA NA NA Belongs to the NBPF family. NA PE2 1 +NX_Q96M53 Protein TBATA 351 39460 9.21 0 Cytosol NA May play a role in spermatid differentiation. Modulates thymic stromal cell proliferation and thymus function. NA Belongs to the TBATA family. NA PE2 10 +NX_Q96M60 Protein FAM227B 508 59956 9 0 Nucleus speckle NA NA NA Belongs to the FAM227 family. NA PE1 15 +NX_Q96M61 Melanoma-associated antigen B18 343 38533 6.81 0 Cytoplasm NA May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. NA NA NA PE1 X +NX_Q96M63 Coiled-coil domain-containing protein 114 670 75046 5.87 0 Cilium Ciliary dyskinesia, primary, 20 Probable component of the outer dynein arm complex required along the entire axoneme for tethering of outer dynein arms. NA Belongs to the ODA1/DCC2 family. NA PE1 19 +NX_Q96M66 Putative uncharacterized protein FLJ32790 194 20693 9.73 0 NA NA NA NA NA NA PE2 16 +NX_Q96M69 Leucine-rich repeat and guanylate kinase domain-containing protein 825 93618 6 0 Acrosome;Cilium basal body;Cytoskeleton NA Involved in multiple aspects of sperm assembly including acrosome attachment, shaping of the sperm head and in the early aspects of axoneme development. Not essential for primary cilium biogenesis. NA NA NA PE1 7 +NX_Q96M78 Putative uncharacterized protein encoded by FER1L6-AS2 137 15528 6.44 0 NA NA NA NA NA NA PE2 8 +NX_Q96M83 Coiled-coil domain-containing protein 7 1385 157448 7.16 0 Cytosol;Spindle;Nucleolus NA May play a role in tumorigenesis. NA NA NA PE1 10 +NX_Q96M85 Putative uncharacterized protein FLJ32756 177 19601 9.71 0 NA NA NA NA NA NA PE2 22 +NX_Q96M86 Dynein heavy chain domain-containing protein 1 4753 533644 6.25 0 Nucleoplasm;Cytoskeleton NA NA NA Belongs to the dynein heavy chain family. NA PE1 11 +NX_Q96M89 Coiled-coil domain-containing protein 138 665 76219 8.75 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 2 +NX_Q96M91 Cilia- and flagella-associated protein 53 514 61835 9 0 Cilium;Midbody Heterotaxy, visceral, 6, autosomal May play a role in the beating of primary cilia and thereby be involved in the establishment of organ laterality during embryogenesis. NA Belongs to the CFAP53 family. NA PE1 18 +NX_Q96M93 Adenosine deaminase domain-containing protein 1 576 64411 9.14 0 Nucleus NA Plays a role in spermatogenesis. Binds to RNA but not to DNA (By similarity). NA Belongs to the ADAD family. NA PE1 4 +NX_Q96M94 Kelch-like protein 15 604 69775 5.98 0 Cytosol;Nucleus Mental retardation, X-linked 103 Substrate-specific adapter for CUL3 E3 ubiquitin-protein ligase complex (PubMed:14528312). Acts as an adapter for CUL3 to target the serine/threonine-protein phosphatase 2A (PP2A) subunit PPP2R5B for ubiquitination and subsequent proteasomal degradation, thus promoting exchange with other regulatory subunits (PubMed:23135275). Acts as an adapter for CUL3 to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation. Through the regulation of RBBP8/CtIP protein turnover, plays a key role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:27561354). NA NA Protein modification; protein ubiquitination. PE1 X +NX_Q96M95 Coiled-coil domain-containing protein 42 316 38019 9.18 0 NA NA Required for sperm development. NA Belongs to the CFAP73 family. NA PE1 17 +NX_Q96M96 FYVE, RhoGEF and PH domain-containing protein 4 766 86626 5.8 0 Filopodium;Cytoskeleton Charcot-Marie-Tooth disease 4H Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. Activates MAPK8 (By similarity). NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 12 +NX_Q96M98 Parkin coregulated gene protein 296 33342 8.42 0 NA NA Suppresses cell death induced by accumulation of unfolded Pael receptor (Pael-R, a substrate of Parkin). Facilitates the formation of inclusions consisting of Pael-R, molecular chaperones, protein degradation molecules and itself when proteasome is inhibited. May play an important role in the formation of Lewy bodies and protection of dopaminergic neurons against Parkinson disease. NA NA NA PE1 6 +NX_Q96MA1 Doublesex- and mab-3-related transcription factor B1 342 36205 6.6 0 Nucleus NA NA NA Belongs to the DMRT family. NA PE1 1 +NX_Q96MA6 Adenylate kinase 8 479 54926 5.77 0 Cytosol NA Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Also displays broad nucleoside diphosphate kinase activity. NA Belongs to the adenylate kinase family. Interconversion of nucleotide di- and triphosphates PE1 9 +NX_Q96MB7 Putative nuclease HARBI1 349 39146 5.28 0 Cytoplasm;Cytosol;Nucleus;Cell membrane NA Transposase-derived protein that may have nuclease activity (Potential). Does not have transposase activity. NA Belongs to the HARBI1 family. NA PE1 11 +NX_Q96MC2 Dynein regulatory complex protein 1 740 87134 5.3 0 Flagellum axoneme;Cilium axoneme Ciliary dyskinesia, primary, 21 Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes (By similarity). Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with CCDC65/DRC2 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules (PubMed:23354437). NA Belongs to the DRC1 family. NA PE1 2 +NX_Q96MC4 CEP295 N-terminal-like protein 621 69839 9.65 0 Cytoplasmic vesicle;Cilium NA NA NA NA NA PE1 17 +NX_Q96MC5 bMERB domain-containing protein 1 204 23732 5.93 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 16 +NX_Q96MC6 Hippocampus abundant transcript 1 protein 490 53027 8.63 12 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the major facilitator superfamily. NA PE1 1 +NX_Q96MC9 Uncharacterized protein C1orf147 270 29841 10.45 0 NA NA NA NA NA NA PE2 1 +NX_Q96MD2 KICSTOR complex protein C12orf66 445 50415 8.95 0 Lysosome membrane;Lysosome;Cytoskeleton NA As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose. NA Belongs to the UPF0536 family. NA PE1 12 +NX_Q96MD7 Uncharacterized protein C9orf85 179 20166 9.54 0 Golgi apparatus;Nucleoplasm;Nucleolus NA NA NA NA NA PE1 9 +NX_Q96ME1 F-box/LRR-repeat protein 18 805 88341 8.73 0 Nucleoplasm;Cytosol NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA NA Antigen processing: Ubiquitination & Proteasome degradation;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation PE1 7 +NX_Q96ME7 Zinc finger protein 512 567 64682 9.8 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 2 +NX_Q96MF0 Putative uncharacterized protein LOC100506887 132 14640 8.82 0 NA NA NA NA NA NA PE5 15 +NX_Q96MF2 SH3 and cysteine-rich domain-containing protein 3 364 41507 6.5 0 Cytoplasm;T-tubule;Nucleoplasm;Cytosol;Sarcolemma Myopathy, congenital, Bailey-Bloch Required for normal excitation-contraction coupling in skeletal muscle and for normal muscle contraction in response to membrane depolarization. Required for normal Ca(2+) release from the sarcplasmic reticulum, which ultimately leads to muscle contraction. Probably functions via its effects on muscle calcium channels (PubMed:23736855, PubMed:29078335). Increases CACNA1S channel activity, in addition to its role in enhancing the expression of CACNA1S at the cell membrane. Has a redundant role in promoting the expression of the calcium channel CACNA1S at the cell membrane (By similarity). Slows down the inactivation rate of the calcium channel CACNA1C (PubMed:29078335). NA NA NA PE1 12 +NX_Q96MF4 Coiled-coil domain-containing protein 140 163 18252 10.64 0 NA NA NA NA NA NA PE1 2 +NX_Q96MF6 Coenzyme Q-binding protein COQ10 homolog A, mitochondrial 247 27686 9.81 0 Endoplasmic reticulum;Golgi apparatus;Cytosol;Mitochondrion inner membrane NA Required for the function of coenzyme Q in the respiratory chain. May serve as a chaperone or may be involved in the transport of Q6 from its site of synthesis to the catalytic sites of the respiratory complexes (Probable). NA Belongs to the COQ10 family. Respiratory electron transport PE1 12 +NX_Q96MF7 E3 SUMO-protein ligase NSE2 247 27932 7.62 0 Nucleoplasm;Nucleus;Telomere;PML body Seckel syndrome 10 E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break repair by homologous recombination. Is not be required for the stability of the complex. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Acts as an E3 ligase mediating SUMO attachment to various proteins such as SMC6L1 and TRAX, the shelterin complex subunits TERF1, TERF2, TINF2 and TERF2IP, and maybe the cohesin components RAD21 and STAG2. Required for recruitment of telomeres to PML nuclear bodies. SUMO protein-ligase activity is required for the prevention of DNA damage-induced apoptosis by facilitating DNA repair, and for formation of APBs in ALT cell lines. Required for sister chromatid cohesion during prometaphase and mitotic progression. Sumoylated, possibly via autosumoylation. Belongs to the NSE2 family. Protein modification; protein sumoylation.;SUMOylation of DNA damage response and repair proteins PE1 8 +NX_Q96MG2 Junctional sarcoplasmic reticulum protein 1 331 36319 9.43 0 Endoplasmic reticulum;Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane NA Involved in skeletal muscle excitation/contraction coupling (EC), probably acting as a regulator of the voltage-sensitive calcium channel CACNA1S. EC is a physiological process whereby an electrical signal (depolarization of the plasma membrane) is converted into a chemical signal, a calcium gradient, by the opening of ryanodine receptor calcium release channels. May regulate CACNA1S membrane targeting and activity. NA NA NA PE1 19 +NX_Q96MG7 Non-structural maintenance of chromosomes element 3 homolog 304 34308 9.3 0 Cytoplasm;Telomere;Nucleus Lung disease, immunodeficiency, and chromosome breakage syndrome Component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination (PubMed:20864041, PubMed:27427983). The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). In vitro enhances ubiquitin ligase activity of NSMCE1. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex (PubMed:20864041). May be a growth suppressor that facilitates the entry of the cell into cell cycle arrest (By similarity). NA NA SUMOylation of DNA damage response and repair proteins PE1 15 +NX_Q96MG8 Protein-L-isoaspartate O-methyltransferase domain-containing protein 1 357 40675 5.46 0 Membrane;Nucleoplasm;Cytoplasm;Cell membrane NA NA NA Belongs to the methyltransferase superfamily. L-isoaspartyl/D-aspartyl protein methyltransferase family. NA PE1 8 +NX_Q96MH2 Protein HEXIM2 286 32419 6.13 0 Nucleoplasm;Nucleus speckle;Nucleus NA Transcriptional regulator which functions as a general RNA polymerase II transcription inhibitor. In cooperation with 7SK snRNA sequesters P-TEFb in a large inactive 7SK snRNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation. NA Belongs to the HEXIM family. NA PE1 17 +NX_Q96MH6 Transmembrane protein 68 324 37425 7.72 2 Membrane;Cytoplasmic vesicle NA NA NA NA NA PE1 8 +NX_Q96MH7 Uncharacterized protein C5orf34 638 72898 8.16 0 NA NA NA NA NA NA PE1 5 +NX_Q96MI6 Protein phosphatase 1M 270 30375 5.34 0 Nucleus NA NA NA Belongs to the PP2C family. NA PE1 3 +NX_Q96MI9 Cytosolic carboxypeptidase 4 1112 125330 6.71 0 Cytosol Corneal dystrophy, Fuchs endothelial, 8 Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5. NA Belongs to the peptidase M14 family. Carboxyterminal post-translational modifications of tubulin PE1 15 +NX_Q96MK2 RIPOR family member 3 946 105290 7.26 0 Nucleoplasm NA NA NA Belongs to the RIPOR family. NA PE1 20 +NX_Q96MK3 Pseudokinase FAM20A 541 61417 8.2 0 Golgi apparatus;Endoplasmic reticulum;Secreted Amelogenesis imperfecta 1G Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins that form the 'matrix' that guides the deposition of the enamel minerals. N-glycosylated. Belongs to the FAM20 family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 17 +NX_Q96MM3 Zinc finger protein 42 homolog 310 34802 9.12 0 Nucleus NA Involved in the reprogramming of X-chromosome inactivation during the acquisition of pluripotency. Required for efficient elongation of TSIX, a non-coding RNA antisense to XIST. Binds DXPas34 enhancer within the TSIX promoter. Involved in ES cell self-renewal (By similarity). Polyubiquitinated by RNF12, leading to proteasomal degradation. Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 4 +NX_Q96MM6 Heat shock 70 kDa protein 12B 686 75688 8.81 0 Nucleoplasm NA NA NA Belongs to the heat shock protein 70 family. Regulation of HSF1-mediated heat shock response PE1 20 +NX_Q96MM7 Heparan-sulfate 6-O-sulfotransferase 2 605 69130 9.79 1 Membrane;Nucleoplasm Paganini-Miozzo syndrome 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. NA Belongs to the sulfotransferase 6 family. Glycosaminoglycan biosynthesis - heparan sulfate;HS-GAG biosynthesis PE1 X +NX_Q96MN2 NACHT, LRR and PYD domains-containing protein 4 994 113415 5.54 0 Mitochondrion NA May be involved in inflammation and recognition of cytosolic pathogen-associated molecular patterns (PAMPs) not intercepted by membrane-bound receptors. Acts as a negative regulator of the type I interferon signaling pathway by serving as an adapter to promote DTX4-mediated ubiquitination of activated TBK1, and its subsequent degradation. Suppresses NF-kappaB induction by the cytokines TNFA and IL1B, suggesting that it operates at a point of convergence in these two cytokine signaling pathways. NA Belongs to the NLRP family. Regulation of innate immune responses to cytosolic DNA;IRF3-mediated induction of type I IFN;IRF3 mediated activation of type 1 IFN PE1 19 +NX_Q96MN5 Transcription elongation factor A N-terminal and central domain-containing protein 2 208 24150 10.05 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA NA NA Belongs to the TCEANC2 family. NA PE1 1 +NX_Q96MN9 Zinc finger protein 488 340 36962 9.2 0 Nucleoplasm;Cytosol;Nucleus NA Transcriptional repressor. Plays a role in oligodendrocyte differentiation, together with OLIG2. Mediates Notch signaling-activated formation of oligodendrocyte precursors. Promotes differentiation of adult neural stem progenitor cells (NSPCs) into mature oligodendrocytes and contributes to remyelination following nerve injury. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 10 +NX_Q96MP5 Zinc finger SWIM domain-containing protein 3 696 79454 7.27 0 Cytoplasmic vesicle;Cytosol;Nucleolus NA NA NA NA NA PE1 20 +NX_Q96MP8 BTB/POZ domain-containing protein KCTD7 289 33132 5.58 0 Cytosol;Cell membrane Epilepsy, progressive myoclonic 3, with or without intracellular inclusions May be involved in the control of excitability of cortical neurons. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 7 +NX_Q96MR6 Cilia- and flagella-associated protein 57 1250 144961 5.61 0 Cytosol NA NA NA NA NA PE1 1 +NX_Q96MR7 Putative uncharacterized protein OBSCN-AS1 158 17524 11.82 0 NA NA NA NA NA NA PE5 1 +NX_Q96MR9 Zinc finger protein 560 790 91121 8.99 0 Nucleoplasm;Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 19 +NX_Q96MS0 Roundabout homolog 3 1386 148209 6.74 1 Membrane;Cytoplasmic vesicle;Cell membrane Gaze palsy, familial horizontal, with progressive scoliosis, 1 Thought to be involved during neural development in axonal navigation at the ventral midline of the neural tube (By similarity). In spinal chord development plays a role in guiding commissural axons probably by preventing premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1 (By similarity). Required for hindbrain axon midline crossing (PubMed:15105459). NA Belongs to the immunoglobulin superfamily. ROBO family. Axon guidance;Regulation of commissural axon pathfinding by SLIT and ROBO;Regulation of expression of SLITs and ROBOs;ROBO receptors bind AKAP5 PE1 11 +NX_Q96MS3 Glycosyltransferase 1 domain-containing protein 1 346 38507 6.02 0 Cytosol;Secreted NA NA NA Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily. NA PE1 12 +NX_Q96MT0 Putative uncharacterized protein FLJ31958 163 16963 5.29 0 NA NA NA NA NA NA PE2 10 +NX_Q96MT1 RING finger protein 145 663 75617 6.39 14 Cytoplasm;Endoplasmic reticulum membrane;Cell membrane;Nucleoplasm;Cytosol NA E3 ubiquitin ligase that catalyzes the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. In response to bacterial infection, negatively regulates the phagocyte oxidative burst by controlling the turnover of the NADPH oxidase complex subunits. Promotes monoubiquitination of CYBA and 'Lys-48'-linked polyubiquitination and degradation of CYBB NADPH oxidase catalytic subunits, both essential for the generation of antimicrobial reactive oxygen species. Involved in the maintenance of cholesterol homeostasis. In response to high sterol concentrations ubiquitinates HMGCR, a rate-limiting enzyme in cholesterol biosynthesis, and targets it for degradation. The interaction with INSIG1 is required for this function. In addition, triggers ubiquitination of SCAP, likely inhibiting its transport to the Golgi apparatus and the subsequent processing/maturation of SREBPF2, ultimately downregulating cholesterol biosynthesis. NA NA NA PE1 5 +NX_Q96MT3 Prickle-like protein 1 831 94300 5.84 0 Nucleoplasm;Cytosol;Nucleus membrane Neural tube defects;Epilepsy, progressive myoclonic 1B Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor. NA Belongs to the prickle / espinas / testin family. Wnt signaling pathway;Asymmetric localization of PCP proteins PE1 12 +NX_Q96MT4 Uncharacterized protein encoded by LINC01600 127 13896 7.59 0 NA NA NA NA NA NA PE1 6 +NX_Q96MT7 Cilia- and flagella-associated protein 44 1854 213865 5.28 0 Flagellum axoneme;Flagellum Spermatogenic failure 20 Flagellar protein involved in sperm flagellum axoneme organization and function. NA Belongs to the CFAP44 family. NA PE1 3 +NX_Q96MT8 Centrosomal protein of 63 kDa 703 81344 5.78 0 Nucleoplasm;Centriolar satellite;Centrosome;Centriole Seckel syndrome 6 Required for normal spindle assembly. Plays a key role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Reported to be required for centrosomal recruitment of CEP152; however, this function has been questioned (PubMed:21983783, PubMed:26297806). Also recruits CDK1 to centrosomes (PubMed:21406398). Plays a role in DNA damage response. Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to the inactivation of spindle assembly and delay in mitotic progression (PubMed:21406398). NA Belongs to the CEP63 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 3 +NX_Q96MU5 Uncharacterized protein C17orf77 243 26264 6.58 0 Secreted NA NA NA NA NA PE2 17 +NX_Q96MU6 Zinc finger protein 778 729 81964 8.77 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_Q96MU7 YTH domain-containing protein 1 727 84700 5.87 0 Nucleoplasm;Nucleus speckle;Nucleus;Cell membrane NA Regulator of alternative splicing that specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs (PubMed:26318451, PubMed:26876937, PubMed:25242552, PubMed:28984244). M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in the efficiency of mRNA splicing, processing and stability (PubMed:26318451, PubMed:25242552). Acts as a key regulator of exon-inclusion or exon-skipping during alternative splicing via interaction with mRNA splicing factors SRSF3 and SRSF10 (PubMed:26876937). Specifically binds m6A-containing mRNAs and promotes recruitment of SRSF3 to its mRNA-binding elements adjacent to m6A sites, leading to exon-inclusion during alternative splicing (PubMed:26876937). In contrast, interaction with SRSF3 prevents interaction with SRSF10, a splicing factor that promotes exon skipping: this prevents SRSF10 from binding to its mRNA-binding sites close to m6A-containing regions, leading to inhibit exon skipping during alternative splicing (PubMed:26876937). May also regulate alternative splice site selection (PubMed:20167602). Also involved in nuclear export of m6A-containing mRNAs via interaction with SRSF3: interaction with SRSF3 facilitates m6A-containing mRNA-binding to both SRSF3 and NXF1, promoting mRNA nuclear export (PubMed:28984244). Also recognizes and binds m6A on other RNA molecules (PubMed:27602518). Involved in random X inactivation mediated by Xist RNA: recognizes and binds m6A-containing Xist and promotes transcription repression activity of Xist (PubMed:27602518). Involved in S-adenosyl-L-methionine homeostasis by regulating expression of MAT2A transcripts, probably by binding m6A-containing MAT2A mRNAs (By similarity). Tyrosine phosphorylated.;YTHDC1 is phosphorylated by ABL1 (Phosphotyrosine:PTM-0255) NA NA PE1 4 +NX_Q96MU8 Kremen protein 1 473 51744 6.69 1 Nucleoplasm;Cytosol;Nucleus;Cell membrane Ectodermal dysplasia 13, hair/tooth type Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6. In the absence of DKK1, potentiates Wnt-beta-catenin signaling by maintaining LRP5 or LRP6 at the cell membrane. Can trigger apoptosis in a Wnt-independent manner and this apoptotic activity is inhibited upon binding of the ligand DKK1. Plays a role in limb development; attenuates Wnt signaling in the developing limb to allow normal limb patterning and can also negatively regulate bone formation. Modulates cell fate decisions in the developing cochlea with an inhibitory role in hair cell fate specification. NA NA TCF dependent signaling in response to WNT;Negative regulation of TCF-dependent signaling by WNT ligand antagonists;Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling PE1 22 +NX_Q96MV1 TLC domain-containing protein 4 263 30041 9.4 6 Membrane;Nucleus speckle NA NA NA Belongs to the TLCD4 family. NA PE1 1 +NX_Q96MV8 Palmitoyltransferase ZDHHC15 337 39331 8.42 4 Cytosol;Nucleus speckle;Golgi apparatus membrane Mental retardation, X-linked 91 Catalyzes palmitoylation of Cys residues on target proteins. Catalyzes palmitoylation of GAP43 and DLG4/PSD95. Autopalmitoylated (in vitro). Belongs to the DHHC palmitoyltransferase family. NA PE1 X +NX_Q96MW1 Coiled-coil domain-containing protein 43 224 25248 4.85 0 Cytosol NA NA NA Belongs to the CCDC43 family. NA PE1 17 +NX_Q96MW5 Conserved oligomeric Golgi complex subunit 8 612 68424 5.12 0 Golgi apparatus;Golgi apparatus membrane Congenital disorder of glycosylation 2H Required for normal Golgi function. NA Belongs to the COG8 family. Intra-Golgi traffic;COPI-mediated anterograde transport;Retrograde transport at the Trans-Golgi-Network PE1 16 +NX_Q96MW7 Tigger transposable element-derived protein 1 591 67299 8.53 0 Nucleoplasm;Nucleolus;Nucleus NA NA NA Belongs to the tigger transposable element derived protein family. NA PE1 2 +NX_Q96MX0 CKLF-like MARVEL transmembrane domain-containing protein 3 182 19714 4.39 3 Membrane;Nucleoplasm NA NA NA Belongs to the chemokine-like factor family. NA PE1 16 +NX_Q96MX3 Zinc finger protein 48 618 67820 9.51 0 Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 16 +NX_Q96MX6 WD repeat-containing protein 92 357 39740 8.32 0 Nucleoplasm NA Seems to act as a modulator of apoptosis. NA NA NA PE1 2 +NX_Q96MY1 Nucleolar protein 4-like 436 47215 4.92 0 Nucleoplasm NA NA NA NA NA PE1 20 +NX_Q96MY7 Protein FAM161B 647 73647 9.44 0 NA NA NA NA Belongs to the FAM161 family. NA PE1 14 +NX_Q96MZ0 Ganglioside-induced differentiation-associated protein 1-like 1 367 41973 6.13 0 Endoplasmic reticulum NA NA NA Belongs to the GST superfamily. NA PE1 20 +NX_Q96MZ4 Protein FAM218A 157 17021 11.82 0 NA NA NA NA NA NA PE1 4 +NX_Q96N03 V-set and transmembrane domain-containing protein 2-like protein 204 22349 8.75 0 NA NA NA NA NA NA PE1 20 +NX_Q96N06 Spermatogenesis-associated protein 33 139 15461 9.27 0 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA NA NA NA NA PE1 16 +NX_Q96N11 Uncharacterized protein C7orf26 449 50047 7.61 0 Nucleoplasm;Cytosol;Nucleolus;Cytoskeleton NA NA NA NA NA PE1 7 +NX_Q96N16 Janus kinase and microtubule-interacting protein 1 626 73209 5.84 0 Membrane;Cytoskeleton NA Associates with microtubules and may play a role in the microtubule-dependent transport of the GABA-B receptor. May play a role in JAK1 signaling and regulate microtubule cytoskeleton rearrangements. NA Belongs to the JAKMIP family. NA PE1 4 +NX_Q96N19 Integral membrane protein GPR137 417 46059 8.78 7 Membrane;Nucleoplasm;Nucleolus;Cytoskeleton NA NA NA Belongs to the GPR137 family. NA PE1 11 +NX_Q96N20 Zinc finger protein 75A 296 34694 9.55 0 Nucleoplasm;Nucleus;Nucleolus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_Q96N21 AP-4 complex accessory subunit Tepsin 525 55137 6.57 0 Golgi apparatus;Nucleus speckle;trans-Golgi network membrane;Nucleus membrane;Cytoplasmic vesicle;Cytosol NA Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network. NA NA NA PE1 17 +NX_Q96N22 Zinc finger protein 681 645 75059 9.27 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 19 +NX_Q96N23 Cilia- and flagella-associated protein 54 3096 351970 8.41 0 Cytosol;Cilium axoneme;Cytoskeleton NA Required for assembly and function of cilia and flagella. NA Belongs to the CFAP54 family. NA PE1 12 +NX_Q96N28 PRELI domain containing protein 3A 172 19247 7.02 0 Mitochondrion NA In vitro, the TRIAP1:PRELID3A complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space. Phosphatidic acid import is required for cardiolipin (CL) synthesis in the mitochondrial inner membrane. NA Belongs to the slowmo family. TP53 Regulates Transcription of Genes Involved in Cytochrome C Release PE1 18 +NX_Q96N35 Putative uncharacterized protein encoded by LINC00052 136 15076 7.18 1 Membrane NA NA NA NA NA PE5 15 +NX_Q96N38 Zinc finger protein 714 554 63883 9.29 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q96N46 Tetratricopeptide repeat protein 14 770 88319 8.77 0 Nucleoplasm NA NA NA Belongs to the TTC14 family. NA PE1 3 +NX_Q96N53 Putative uncharacterized protein encoded by LINC00167 147 15424 11.86 0 NA NA NA NA NA NA PE5 11 +NX_Q96N58 Zinc finger protein 578 590 68531 9.19 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q96N64 PWWP domain-containing protein 2A 755 81960 9.09 0 Nucleoplasm;Focal adhesion;Nucleus NA H2A.Z-specific chromatin binding protein which may play an important role in the neural crest stem cell migration and differentiation during early development. Also required for proper mitosis progression. NA NA NA PE1 5 +NX_Q96N66 Lysophospholipid acyltransferase 7 472 52765 9.16 7 Cytosol;Endoplasmic reticulum membrane Mental retardation, autosomal recessive 57 Acyltransferase which contributes to the regulation of free arachidonic acid (AA) in the cell through the remodeling of phospholipids. Mediates the conversion of lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) into phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoinositol or PI) (LPIAT activity). Prefers arachidonoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. Required for cortical lamination during brain development (By similarity). NA Belongs to the membrane-bound acyltransferase family. Lipid metabolism; phospholipid metabolism.;Glycerophospholipid metabolism;Acyl chain remodelling of PI PE1 19 +NX_Q96N67 Dedicator of cytokinesis protein 7 2140 242561 6.34 0 Axon Epileptic encephalopathy, early infantile, 23 Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 'Ser-15' phosphorylation during axon formation and consequently for neuronal polarization (PubMed:16982419). As part of the DISP complex, may regulate the association of septins with actin and thereby regulate the actin cytoskeleton (PubMed:29467281). Has a role in pigmentation (By similarity). Involved in the regulation of cortical neurogenesis through the control of radial glial cells (RGCs) proliferation versus differentiation; negatively regulates the basal-to-apical interkinetic nuclear migration of RGCs by antagonizing the microtubule growth-promoting function of TACC3 (By similarity). DOCK7 is phosphorylated by ERBB2 Belongs to the DOCK family. Factors involved in megakaryocyte development and platelet production;MET activates RAP1 and RAC1 PE1 1 +NX_Q96N68 Putative uncharacterized protein C18orf15 181 19136 7.45 1 Membrane NA NA NA NA NA PE5 18 +NX_Q96N76 Urocanate hydratase 676 74831 6.34 0 NA Urocanase deficiency NA NA Belongs to the urocanase family. Amino-acid degradation; L-histidine degradation into L-glutamate; N-formimidoyl-L-glutamate from L-histidine: step 2/3.;Histidine metabolism;Metabolic pathways;Histidine catabolism PE1 3 +NX_Q96N77 Zinc finger protein 641 438 49528 5.78 0 Nucleoplasm;Nucleus NA Transcriptional activator. Activates transcriptional activities of SRE and AP-1. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 12 +NX_Q96N87 Inactive sodium-dependent neutral amino acid transporter B(0)AT3 628 70897 7.03 12 Membrane;Endoplasmic reticulum NA Does not show neutral amino acid transporter activity. NA Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A18 subfamily. Amino acid transport across the plasma membrane;Na+/Cl- dependent neurotransmitter transporters;Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria;Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria PE2 5 +NX_Q96N95 Zinc finger protein 396 335 38612 8.26 0 Cytoplasm;Nucleus NA Act as DNA-dependent transcriptional repressors. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 18 +NX_Q96N96 Spermatogenesis-associated protein 13 652 74820 7.01 0 Cytoplasm;Nucleoplasm;Lamellipodium;Filopodium;Ruffle membrane;Cytosol NA Acts as guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Regulates cell migration and adhesion assembly and disassembly through a RAC1, PI3K, RHOA and AKT1-dependent mechanism. Increases both RAC1 and CDC42 activity, but decreases the amount of active RHOA. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Involved in tumor angiogenesis and may play a role in intestinal adenoma formation and tumor progression. NA NA NA PE1 13 +NX_Q96NA2 Rab-interacting lysosomal protein 401 44200 5.47 0 Phagosome membrane;Lysosome membrane;Late endosome membrane NA Rab effector playing a role in late endocytic transport to degradative compartments. Involved in the regulation of lysosomal morphology and distribution. Induces recruitment of dynein-dynactin motor complexes to Rab7A-containing late endosome and lysosome compartments. Promotes centripetal migration of phagosomes and the fusion of phagosomes with the late endosomes and lysosomes. NA NA Phagosome;Salmonella infection;MHC class II antigen presentation PE1 17 +NX_Q96NA8 t-SNARE domain-containing protein 1 513 55949 9.23 1 Membrane;Nucleoplasm;Cell membrane NA NA NA NA NA PE1 8 +NX_Q96NB1 LisH domain-containing protein FOPNL 174 19778 6.6 0 Centriole;Centriolar satellite;Cilium;Cilium basal body;Centrosome;Cytoplasmic granule NA Involved in the biogenesis of cilia (PubMed:20551181). Required for the recruitment of PLK1 to centrosomes and S phase progression (PubMed:24018379). NA Belongs to the FGFR1OP family. NA PE1 16 +NX_Q96NB2 Sideroflexin-2 322 36232 9.48 5 Mitochondrion membrane;Mitochondrion NA Mitochondrial amino-acid transporter that mediates transport of serine into mitochondria. NA Belongs to the sideroflexin family. NA PE1 10 +NX_Q96NB3 Zinc finger protein 830 372 41999 5.22 0 Nucleoplasm;Nucleus speckle;Nucleus;Chromosome NA May play a role in pre-mRNA splicing as component of the spliceosome (PubMed:25599396). Acts as an important regulator of the cell cycle that participates in the maintenance of genome integrity. During cell cycle progression in embryonic fibroblast, prevents replication fork collapse, double-strand break formation and cell cycle checkpoint activation. Controls mitotic cell cycle progression and cell survival in rapidly proliferating intestinal epithelium and embryonic stem cells. During the embryo preimplantation, controls different aspects of M phase. During early oocyte growth, plays a role in oocyte survival by preventing chromosomal breaks formation, activation of TP63 and reduction of transcription (By similarity). Phosphorylated in response to DNA damage by the cell cycle checkpoint kinases ATR/ATM. NA Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER PE1 17 +NX_Q96NC0 Zinc finger matrin-type protein 2 199 23612 9.08 0 Nucleoplasm;Mitochondrion;Nucleus NA Involved in pre-mRNA splicing as a component of the spliceosome. NA NA NA PE1 5 +NX_Q96ND0 Protein FAM210A 272 30777 9.77 1 Golgi apparatus;Cytoplasm;Mitochondrion;Membrane;Nucleoplasm NA May play a role in the structure and strength of both muscle and bone. NA Belongs to the FAM210 family. NA PE1 18 +NX_Q96ND8 Zinc finger protein 583 569 66033 9.07 0 Nucleolus;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q96NE9 FERM domain-containing protein 6 622 72044 7.12 0 Cytoplasm;Mitochondrion;Cell membrane NA NA NA NA NA PE1 14 +NX_Q96NF6 Putative uncharacterized protein C8orf49 230 25558 9.67 1 Membrane NA NA NA NA NA PE2 8 +NX_Q96NG3 Tetratricopeptide repeat protein 25 672 76655 5.49 0 Cytoplasm;Cilium axoneme Ciliary dyskinesia, primary, 35 Required for the docking of the outer dynein arm to cilia, hence plays an essential role in cilia motility. NA NA NA PE1 17 +NX_Q96NG5 Zinc finger protein 558 402 45755 9.2 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q96NG8 Zinc finger protein 582 517 60498 8.79 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 19 +NX_Q96NH3 Protein broad-minded 1257 144756 6.3 0 Cytoplasm;Mitochondrion;Cilium NA Required for high-level Shh responses in the developing neural tube. Together with CDK20, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to Shh signaling (By similarity). NA NA NA PE1 6 +NX_Q96NI6 Leucine-rich repeat and fibronectin type-III domain-containing protein 5 719 79445 7.26 1 Membrane NA Cell adhesion molecule that mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner. Promotes neurite outgrowth in hippocampal neurons. NA Belongs to the LRFN family. NA PE1 14 +NX_Q96NI8 Zinc finger protein 570 536 62330 8.63 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q96NJ1 Uncharacterized protein FLJ30774 140 14269 11.49 0 NA NA NA NA NA NA PE2 9 +NX_Q96NJ3 Zinc finger protein 285 590 68261 8.59 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q96NJ5 Kelch-like protein 32 620 70362 5.97 0 NA NA NA NA NA NA PE2 6 +NX_Q96NJ6 Zinc finger protein 3 homolog 502 57662 6.99 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 17 +NX_Q96NK8 Neurogenic differentiation factor 6 337 38705 8.76 0 Nucleus NA Activates E box-dependent transcription in collaboration with TCF3/E47. May be a trans-acting factor involved in the development and maintenance of the mammalian nervous system. Transactivates the promoter of its own gene (By similarity). NA NA NA PE1 7 +NX_Q96NL0 RUN domain-containing protein 3B 473 52813 5.44 0 NA NA NA NA Belongs to the RUNDC3 family. NA PE1 7 +NX_Q96NL1 Transmembrane protein 74 305 33338 5.12 2 Autophagosome membrane;Cytosol;Lysosome membrane NA Plays an essential role in autophagy. TMEM74-induced autophagy may involve PI3K signal transduction. NA Belongs to the TMEM74 family. NA PE1 8 +NX_Q96NL3 Zinc finger protein 599 588 67492 8.73 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q96NL6 Sodium channel and clathrin linker 1 688 80910 5.83 0 Centriole NA Adapter protein that links SCN10A to clathrin. Regulates SCN10A channel activity, possibly by promoting channel internalization (By similarity). NA NA Anchoring of the basal body to the plasma membrane PE1 4 +NX_Q96NL8 Protein C8orf37 207 23381 6.52 0 Cytoplasm;Cell membrane;Photoreceptor inner segment;Cell junction;Cytosol Bardet-Biedl syndrome 21;Retinitis pigmentosa 64;Cone-rod dystrophy 16 May be involved in photoreceptor outer segment disk morphogenesis (By similarity). NA NA NA PE1 8 +NX_Q96NM4 TOX high mobility group box family member 2 488 51604 6.23 0 Nucleoplasm;Nucleus NA Putative transcriptional activator involved in the hypothalamo-pituitary-gonadal system. NA NA NA PE1 20 +NX_Q96NN9 Apoptosis-inducing factor 3 605 66791 9.2 0 Mitochondrion NA Induces apoptosis through a caspase dependent pathway. Reduces mitochondrial membrane potential. NA Belongs to the FAD-dependent oxidoreductase family. NA PE1 22 +NX_Q96NR2 Putative MIR1-1HG-AS1 134 14382 11.88 0 NA NA NA NA NA NA PE2 20 +NX_Q96NR3 Patched domain-containing protein 1 888 101341 8.57 11 Cell membrane Autism, X-linked 4 Required for the development and function of the thalamic reticular nucleus (TRN), a part of the thalamus that is critical for thalamocortical transmission, generation of sleep rhythms, sensorimotor processing and attention. NA Belongs to the patched family. NA PE2 X +NX_Q96NR7 Putative uncharacterized protein WWC2-AS2 200 21356 12.28 0 NA NA NA NA NA NA PE5 4 +NX_Q96NR8 Retinol dehydrogenase 12 316 35094 9.73 0 Endoplasmic reticulum membrane Leber congenital amaurosis 13;Retinitis pigmentosa 53 Retinoids dehydrogenase/reductase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinal. Shows very weak activity towards 13-cis-retinol (PubMed:15865448, PubMed:12226107). Also exhibits activity, albeit with lower affinity than for retinaldehydes, towards lipid peroxidation products (C9 aldehydes) such as 4-hydroxynonenal and trans-2-nonenal (PubMed:19686838, PubMed:15865448). May play an important function in photoreceptor cells to detoxify 4-hydroxynonenal and potentially other toxic aldehyde products resulting from lipid peroxidation (PubMed:19686838). Has no dehydrogenase activity towards steroids (PubMed:15865448, PubMed:12226107). NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Cofactor metabolism; retinol metabolism.;Retinol metabolism;Metabolic pathways;The canonical retinoid cycle in rods (twilight vision);Retinoid cycle disease events PE1 14 +NX_Q96NS1 Protein yippee-like 4 127 14301 8.42 0 Nucleolus NA NA NA Belongs to the yippee family. NA PE1 11 +NX_Q96NS5 Ankyrin repeat and SOCS box protein 16 453 49637 8.39 0 Focal adhesion NA May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 17 +NX_Q96NS8 Putative protein CLUHP3 147 16687 6.48 0 NA NA NA NA NA NA PE5 16 +NX_Q96NT0 Coiled-coil domain-containing protein 115 180 19761 6.44 0 Endoplasmic reticulum-Golgi intermediate compartment;Cell membrane;Endoplasmic reticulum;Endosome;Lysosome;Cytoplasmic vesicle;COPI-coated vesicle Congenital disorder of glycosylation 2O Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation (PubMed:28296633). May be involved in Golgi homeostasis (PubMed:26833332). NA NA NA PE1 2 +NX_Q96NT1 Nucleosome assembly protein 1-like 5 182 19593 4.12 0 Nucleoplasm;Cytosol;Nucleus NA NA NA Belongs to the nucleosome assembly protein (NAP) family. NA PE1 4 +NX_Q96NT3 Protein GUCD1 240 27207 6.4 0 Nucleoplasm NA NA NA NA NA PE1 22 +NX_Q96NT5 Proton-coupled folate transporter 459 49771 9.03 12 Cytoplasm;Apical cell membrane;Cytosol;Cell membrane Hereditary folate malabsorption Has been shown to act both as an intestinal proton-coupled high-affinity folate transporter and as an intestinal heme transporter which mediates heme uptake from the gut lumen into duodenal epithelial cells. The iron is then released from heme and may be transported into the bloodstream. Dietary heme iron is an important nutritional source of iron. Shows a higher affinity for folate than heme. NA Belongs to the major facilitator superfamily. SLC46A family. Vitamin digestion and absorption;Mineral absorption;Metabolism of folate and pterines;Iron uptake and transport PE1 17 +NX_Q96NU0 Contactin-associated protein-like 3B 1288 140415 7.19 1 Membrane NA NA NA Belongs to the neurexin family. NA PE1 9 +NX_Q96NU1 Sterile alpha motif domain-containing protein 11 681 72708 7.34 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA May play a role in photoreceptor development. NA NA NA PE1 1 +NX_Q96NU7 Probable imidazolonepropionase 426 46743 6.14 0 Nucleoplasm;Cytosol;Cell membrane NA NA NA Belongs to the metallo-dependent hydrolases superfamily. HutI family. Amino-acid degradation; L-histidine degradation into L-glutamate; N-formimidoyl-L-glutamate from L-histidine: step 3/3.;Histidine metabolism;Metabolic pathways;Histidine catabolism PE1 12 +NX_Q96NW4 Ankyrin repeat domain-containing protein 27 1050 116984 6.42 0 Cell membrane;Early endosome;Cytoplasmic vesicle membrane;Endosome;Melanosome;Late endosome;Lysosome;Cytosol NA May be a guanine exchange factor (GEF) for Rab21, Rab32 and Rab38 and regulate endosome dynamics (PubMed:16525121, PubMed:18477474). May regulate the participation of VAMP7 in membrane fusion events; in vitro inhibits VAMP7-mediated SNARE complex formation by trapping VAMP7 in a closed, fusogenically inactive conformation (PubMed:23104059). Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with Rab32, Rab38 and VAMP7 (By similarity). Involved in the regulation of neurite growth; the function seems to require its GEF activity, probably towards Rab21, and VAMP7 but not Rab32/38 (By similarity). Proposed to be involved in Golgi sorting of VAMP7 and transport of VAMP7 vesicles to the cell surface; the function seems to implicate kinesin heavy chain isoform 5 proteins, GOLGA4, RAB21 and MACF1 (PubMed:22705394). Required for the colocalization of VAMP7 and Rab21, probably on TGN sites (PubMed:19745841). Involved in GLUT1 endosome-to-plasma membrane trafficking; the function is dependent of association with VPS29 (PubMed:24856514). Regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity). NA NA RAB GEFs exchange GTP for GDP on RABs PE1 19 +NX_Q96NW7 Leucine-rich repeat-containing protein 7 1537 172581 6.37 0 Cytoplasm;Cell membrane;Nucleoplasm;Centrosome;Postsynaptic density;Cytosol NA Required for normal synaptic spine architecture and function. Necessary for DISC1 and GRM5 localization to postsynaptic density complexes and for both N-methyl D-aspartate receptor-dependent and metabotropic glutamate receptor-dependent long term depression. NA Belongs to the LAP (LRR and PDZ) protein family. RAF/MAP kinase cascade;Unblocking of NMDA receptors, glutamate binding and activation;Ras activation upon Ca2+ influx through NMDA receptor;Neutrophil degranulation;Assembly and cell surface presentation of NMDA receptors;Negative regulation of NMDA receptor-mediated neuronal transmission;Long-term potentiation PE1 1 +NX_Q96NX5 Calcium/calmodulin-dependent protein kinase type 1G 476 53087 7.83 0 Cytoplasm;Golgi apparatus membrane;Cell membrane NA Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates transcription factor CREB1 (By similarity). May be prenylated on Cys-473. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. NA PE1 1 +NX_Q96NX9 Dachshund homolog 2 599 65323 9.22 0 Nucleoplasm;Nucleus NA Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator for SIX1 and SIX6. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin-dependent kinase inhibitors, including the p27Kip1 promoter. Is recruited with SIX6 to the p27Kip1 promoter in embryonal retina. SIX6 corepression seems also to involve NCOR1, TBL1, HDAC1 and HDAC3. May be involved together with PAX3, SIX1, and EYA2 in regulation of myogenesis. In the developing somite, expression of DACH2 and PAX3 is regulated by the overlying ectoderm, and DACH2 and PAX3 positively regulate each other's expression (By similarity). Probably binds to DNA via its DACHbox-N domain. NA Belongs to the DACH/dachshund family. NA PE1 X +NX_Q96NY7 Chloride intracellular channel protein 6 704 73012 4.29 1 Cytoplasm;Cell membrane NA May insert into membranes and form chloride ion channels. May play a critical role in water-secreting cells, possibly through the regulation of chloride ion transport (By similarity). Phosphorylated. Belongs to the chloride channel CLIC family. NA PE1 21 +NX_Q96NY8 Nectin-4 510 55454 5.23 1 Adherens junction;Secreted;Cell membrane Ectodermal dysplasia-syndactyly syndrome 1 (Microbial infection) Acts as a receptor for measles virus.;Seems to be involved in cell adhesion through trans-homophilic and -heterophilic interactions, the latter including specifically interactions with NECTIN1. Does not act as receptor for alpha-herpesvirus entry into cells. The soluble form is produced by proteolytic cleavage at the cell surface (shedding), probably by ADAM17/TACE. Belongs to the nectin family. Adherens junction;Adherens junctions interactions;Nectin/Necl trans heterodimerization PE1 1 +NX_Q96NY9 Crossover junction endonuclease MUS81 551 61173 9.78 0 Nucleoplasm;Nucleolus NA Interacts with EME1 and EME2 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks. NA Belongs to the XPF family. Resolution of D-loop Structures through Holliday Junction Intermediates;Fanconi Anemia Pathway PE1 11 +NX_Q96NZ1 Forkhead box protein N4 517 55215 5.93 0 Nucleoplasm;Cytosol;Mitochondrion;Nucleus NA Transcription factor essential for neural and some non-neural tissues development, such as retina and lung respectively. Binds to an 11-bp consensus sequence containing the invariant tetranucleotide 5'-ACGC-3'. During development of the central nervous system, is required to specify the amacrine and horizontal cell fates from multipotent retinal progenitors while suppressing the alternative photoreceptor cell fates through activating DLL4-NOTCH signaling. Also acts synergistically with ASCL1/MASH1 to activate DLL4-NOTCH signaling and drive commitment of p2 progenitors to the V2b interneuron fates during spinal cord neurogenesis. In development of non-neural tissues, plays an essential role in the specification of the atrioventricular canal and is indirectly required for patterning the distal airway during lung development (By similarity). NA NA NA PE1 12 +NX_Q96NZ8 WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 1 548 58798 5.84 0 Secreted NA Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease- and metalloprotease-inhibitor activity (By similarity). NA Belongs to the WFIKKN family. NA PE1 16 +NX_Q96NZ9 Proline-rich acidic protein 1 151 17208 5.2 0 Secreted NA May play an important role in maintaining normal growth homeostasis in epithelial cells. NA NA NA PE1 10 +NX_Q96P09 Baculoviral IAP repeat-containing protein 8 236 27089 6.99 0 Cytoplasm NA Protects against apoptosis mediated by BAX. NA Belongs to the IAP family. NA PE1 19 +NX_Q96P11 Probable 28S rRNA (cytosine-C(5))-methyltransferase 429 46692 8.91 0 NA NA S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 in 28S rRNA. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. NA PE1 7 +NX_Q96P15 Serpin B11 392 44099 8.42 0 Cytoplasm NA Has no serine protease inhibitory activity, probably due to mutations in the scaffold impairing conformational change. NA Belongs to the serpin family. Ov-serpin subfamily. NA PE1 18 +NX_Q96P16 Regulation of nuclear pre-mRNA domain-containing protein 1A 312 35720 7.13 0 Golgi apparatus;Nucleoplasm NA Interacts with phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and participates in dephosphorylation of the CTD by RPAP2. May act as a negative regulator of cyclin-D1 (CCND1) and cyclin-E (CCNE1) in the cell cycle. NA Belongs to the UPF0400 (RTT103) family. RNA polymerase II transcribes snRNA genes PE1 18 +NX_Q96P20 NACHT, LRR and PYD domains-containing protein 3 1036 118173 6.22 0 Inflammasome;Secreted;Endoplasmic reticulum;Golgi apparatus membrane;Cytosol;Nucleus Deafness, autosomal dominant, 34, with or without inflammation;Muckle-Wells syndrome;Familial cold autoinflammatory syndrome 1;Chronic infantile neurologic cutaneous and articular syndrome;Keratoendothelitis fugax hereditaria As the sensor component of the NLRP3 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP3, PYCARD and CASP1 (and possibly CASP4 and CASP5). Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu (PubMed:28847925). Activation of NLRP3 inflammasome is also required for HMGB1 secretion (PubMed:22801494). The active cytokines and HMGB1 stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death. Under resting conditions, NLRP3 is autoinhibited. NLRP3 activation stimuli include extracellular ATP, reactive oxygen species, K(+) efflux, crystals of monosodium urate or cholesterol, amyloid-beta fibers, environmental or industrial particles and nanoparticles, cytosolic dsRNA, etc. However, it is unclear what constitutes the direct NLRP3 activator. Activation in presence of cytosolic dsRNA is mediated by DHX33 (PubMed:23871209). Independently of inflammasome activation, regulates the differentiation of T helper 2 (Th2) cells and has a role in Th2 cell-dependent asthma and tumor growth (By similarity). During Th2 differentiation, required for optimal IRF4 binding to IL4 promoter and for IRF4-dependent IL4 transcription. Binds to the consensus DNA sequence 5'-GRRGGNRGAG-3'. May also participate in the transcription of IL5, IL13, GATA3, CCR3, CCR4 and MAF (By similarity). The disulfide bond in the pyrin domain might play a role in reactive oxygen species-mediated activation.;Ubiquitinated; undergoes both 'Lys-48'- and 'Lys-63'-linked polyubiquitination. Ubiquitination does not lead to degradation, but inhibits inflammasome activation (By similarity). Deubiquitination is catalyzed by BRCC3 and associated with NLRP3 activation and inflammasome assembly. This process can be induced by the activation of Toll-like receptors (by LPS), through a non-transcriptional pathway dependent on the mitochondrial production of reactive oxygen species, and by ATP. Belongs to the NLRP family. NOD-like receptor signaling pathway;Pertussis;Influenza A;The NLRP3 inflammasome;Metalloprotease DUBs PE1 1 +NX_Q96P26 Cytosolic 5'-nucleotidase 1B 610 68804 9.03 0 Cytoplasm NA Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides. Helps to regulate adenosine levels (By similarity). NA Belongs to the 5'-nucleotidase type 3 family. Purine metabolism;Pyrimidine metabolism;Nicotinate and nicotinamide metabolism;Metabolic pathways;Purine catabolism PE1 2 +NX_Q96P31 Fc receptor-like protein 3 734 80856 6.56 1 Cell membrane Rheumatoid arthritis Promotes TLR9-induced B-cell proliferation, activation and survival but inhibits antibody production and suppresses plasma cell differentiation. Enhances activation of NF-kappa-B and MAPK signaling pathways in TLR9 stimulated B-cells (PubMed:23857366). Has inhibitory potentional on B-cell receptor (BCR)-mediated signaling, possibly through association with SH2 domain-containing phosphatases. Inhibits cell tyrosine phosphorylation, calcium mobilization and activation-induced cell death induced through BCR signaling (PubMed:19843936). Regulatory T-cells expressing FCRL3 exhibit a memory phenotype, are relatively nonresponsive to antigenic stimulation in presence of IL2 and have reduced capacity to suppress the proliferation of effector T-cells (PubMed:20190142, PubMed:19494275). Phosphorylated on cytoplasmic tyrosines; required for interaction with protein tyrosine phosphatases and protein tyrosine kinases. NA NA PE1 1 +NX_Q96P44 Collagen alpha-1(XXI) chain 957 99369 8.57 0 Cytoplasm;Cytosol;Extracellular matrix NA NA NA Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. Collagen biosynthesis and modifying enzymes;Collagen chain trimerization PE1 6 +NX_Q96P47 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 875 95044 8.22 0 Cytoplasm NA GTPase-activating protein for the ADP ribosylation factor family (Potential). GTPase which may be involved in the degradation of expanded polyglutamine proteins through the ubiquitin-proteasome pathway. NA Belongs to the centaurin gamma-like family. NA PE1 7 +NX_Q96P48 Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1 1450 162192 5.86 0 Cytoplasm;Cell membrane;Golgi stack membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency. Has a preference for ARF1 and ARF5 (By similarity). NA NA Endocytosis;Rho GTPase cycle;PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 PE1 11 +NX_Q96P50 Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 834 92495 5.69 0 Golgi apparatus;Nucleoplasm NA GTPase-activating protein for the ADP ribosylation factor family. NA NA Endocytosis PE1 1 +NX_Q96P53 WD repeat and FYVE domain-containing protein 2 400 45154 6.46 0 Cytoplasm;Early endosome;Endosome NA Acts in an adapter protein-like fashion to mediate the interaction between the kinase PRKCZ and its substrate VAMP2 and increases the PRKCZ-dependent phosphorylation of VAMP2 (PubMed:17313651). Positively regulates adipocyte differentiation, by facilitating the phosphorylation and thus inactivation of the anti-adipogenetic transcription factor FOXO1 by the kinase AKT1 (PubMed:18388859). Plays a role in endosomal control of AKT2 signaling; required for insulin-stimulated AKT2 phosphorylation and glucose uptake and insulin-stimulated phosphorylation of AKT2 substrates (By similarity). Participates in transferrin receptor endocytosis (PubMed:16873553). NA NA NA PE1 13 +NX_Q96P56 Cation channel sperm-associated protein 2 530 62041 6.83 6 Flagellum membrane Deafness-infertility syndrome Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte. NA Belongs to the cation channel sperm-associated (TC 1.A.1.19) family. Sperm Motility And Taxes PE1 15 +NX_Q96P63 Serpin B12 405 46276 5.36 0 Cytoplasm NA Inhibits trypsin and plasmin, but not thrombin, coagulation factor Xa, or urokinase-type plasminogen activator. NA Belongs to the serpin family. Ov-serpin subfamily. Neutrophil degranulation PE1 18 +NX_Q96P64 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 663 73070 7.03 0 NA NA Putative GTPase-activating protein. NA Belongs to the centaurin gamma-like family. NA PE2 10 +NX_Q96P65 Pyroglutamylated RF-amide peptide receptor 431 49488 9.27 7 Cell membrane NA Receptor for the orexigenic neuropeptide QRFP. The activity of this receptor is mediated by G proteins that modulate adenylate cyclase activity and intracellular calcium levels. NA Belongs to the G-protein coupled receptor 1 family. G alpha (q) signalling events;Orexin and neuropeptides FF and QRFP bind to their respective receptors PE2 4 +NX_Q96P66 Probable G-protein coupled receptor 101 508 56716 5.51 7 Cell membrane Pituitary adenoma 2, growth hormone-secreting Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 X +NX_Q96P67 Probable G-protein coupled receptor 82 336 38409 9.21 6 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 X +NX_Q96P68 2-oxoglutarate receptor 1 337 38251 8.54 7 Cell membrane NA Receptor for alpha-ketoglutarate. Seems to act exclusively through a G(q)-mediated pathway (By similarity). NA Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;Class A/1 (Rhodopsin-like receptors) PE2 13 +NX_Q96P69 G-protein coupled receptor 78 363 39332 10.26 7 Cell membrane NA Orphan receptor. Displays a significant level of constitutive activity. Its effect is mediated by G(s)-alpha protein that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 4 +NX_Q96P70 Importin-9 1041 115963 4.71 0 Cytoplasm;Cytosol;Nucleus;Cytoplasmic vesicle NA Functions in nuclear protein import as nuclear transport receptor (PubMed:11823430). Serves as receptor for nuclear localization signals (NLS) in cargo substrates (PubMed:11823430). Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism (PubMed:11823430). At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran (PubMed:11823430). The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (PubMed:11823430). Mediates the nuclear import of RPS7, RPL18A, RPL6, histone H2A, histone H2B and histone (PubMed:11823430). Prevents the cytoplasmic aggregation of RPS7 and RPL18A by shielding exposed basic domains (PubMed:11823430). Mediates the nuclear import of actin (By similarity). NA Belongs to the importin beta family. NA PE1 1 +NX_Q96P71 N-terminal EF-hand calcium-binding protein 3 396 44350 5.83 0 Golgi apparatus NA Inhibits the interaction of APBA2 with amyloid-beta precursor protein (APP), and hence allows formation of amyloid-beta. May enhance the activity of HIF1A and thus promote glycolysis under normoxic conditions; the function requires its ABM domain and may implicate the stabilization of the interaction between HIF1AN and APBA3. Phosphorylated by NEK2.;NECAB3 is phosphorylated by NEK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA NA PE1 20 +NX_Q96P88 Putative gonadotropin-releasing hormone II receptor 292 32537 9.45 5 Cell membrane NA Putative receptor for gonadotropin releasing hormone II (GnRH II) which is most probably non-functional. Phosphorylated on the C-terminal cytoplasmic tail. Belongs to the G-protein coupled receptor 1 family. G alpha (q) signalling events;Hormone ligand-binding receptors PE5 1 +NX_Q96PB1 N-acetylneuraminate 9-O-acetyltransferase 797 91680 9.04 15 Nucleoplasm;Golgi apparatus membrane NA O-acetyltransferase that catalyzes 9-O-acetylation of sialic acids (PubMed:20947662, PubMed:26169044). Sialic acids are sugars at the reducing end of glycoproteins and glycolipids, and are involved in various processes such as cell-cell interactions, host-pathogen recognition (PubMed:20947662, PubMed:26169044). N-glycosylated. Belongs to the PC-esterase family. CASD1 subfamily. NA PE1 7 +NX_Q96PB7 Noelin-3 478 54930 8.29 0 Cytoplasmic vesicle;Secreted;Synapse NA NA NA NA NA PE1 1 +NX_Q96PB8 Leucine-rich repeat-containing protein 3B 259 29275 6.49 1 Membrane NA NA NA Belongs to the LRRC3 family. NA PE1 3 +NX_Q96PC2 Inositol hexakisphosphate kinase 3 410 46417 8.28 0 Cytoplasm;Nucleoplasm;Cytosol NA Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. NA Belongs to the inositol phosphokinase (IPK) family. Synthesis of pyrophosphates in the cytosol PE1 6 +NX_Q96PC3 AP-1 complex subunit sigma-3 154 18280 6.32 0 Cytoplasmic vesicle membrane;Golgi apparatus;Clathrin-coated pit;Cytoplasmic vesicle Psoriasis 15, pustular Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. Involved in TLR3 trafficking (PubMed:24791904). NA Belongs to the adaptor complexes small subunit family. Lysosome;MHC class II antigen presentation;Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis;Nef mediated downregulation of MHC class I complex cell surface expression PE1 2 +NX_Q96PC5 Melanoma inhibitory activity protein 2 1412 159836 4.61 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum (PubMed:27138255, PubMed:21525241, PubMed:25202031, PubMed:27170179). Plays a role in the secretion of lipoproteins, pre-chylomicrons and pre-VLDLs, by participating in their export from the endoplasmic reticulum (PubMed:27138255). Thereby, may play a role in cholesterol and triglyceride homeostasis (By similarity). Required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers and recruiting PREB/SEC12 at the endoplasmic reticulum exit sites (PubMed:21525241, PubMed:25202031, PubMed:27170179). NA Belongs to the MIA/OTOR family. Cargo concentration in the ER PE1 14 +NX_Q96PD2 Discoidin, CUB and LCCL domain-containing protein 2 775 85035 6.77 1 Membrane;Golgi apparatus;Cytosol;Cell membrane NA NA NA NA NA PE1 3 +NX_Q96PD4 Interleukin-17F 163 18045 9.15 0 Secreted Candidiasis, familial, 6 Ligand for IL17RA and IL17RC (PubMed:17911633). The heterodimer formed by IL17A and IL17F is a ligand for the heterodimeric complex formed by IL17RA and IL17RC (PubMed:18684971). Involved in stimulating the production of other cytokines such as IL6, IL8 and CSF2, and in regulation of cartilage matrix turnover (PubMed:11591732, PubMed:11591768, PubMed:11574464). Also involved in stimulating the proliferation of peripheral blood mononuclear cells and T-cells and in inhibition of angiogenesis (PubMed:11591732). Plays a role in the induction of neutrophilia in the lungs and in the exacerbation of antigen-induced pulmonary allergic inflammation (By similarity). NA Belongs to the IL-17 family. Interleukin-17 signaling;Interleukin-4 and Interleukin-13 signaling PE1 6 +NX_Q96PD5 N-acetylmuramoyl-L-alanine amidase 576 62217 7.25 0 Membrane;Cell junction;Secreted NA May play a scavenger role by digesting biologically active peptidoglycan (PGN) into biologically inactive fragments. Has no direct bacteriolytic activity. NA Belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. Antimicrobial peptides PE1 19 +NX_Q96PD6 2-acylglycerol O-acyltransferase 1 335 38812 9.52 3 Endoplasmic reticulum membrane NA Catalyzes the formation of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. Probably not involved in absorption of dietary fat in the small intestine (By similarity). NA Belongs to the diacylglycerol acyltransferase family. Glycerolipid metabolism; triacylglycerol biosynthesis.;Triglyceride biosynthesis PE2 2 +NX_Q96PD7 Diacylglycerol O-acyltransferase 2 388 43831 9.46 2 Perinuclear region;Endoplasmic reticulum membrane;Lipid droplet NA Essential acyltransferase that catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. Required for synthesis and storage of intracellular triglycerides (PubMed:27184406). Probably plays a central role in cytosolic lipid accumulation. In liver, is primarily responsible for incorporating endogenously synthesized fatty acids into triglycerides (By similarity). Functions also as an acyl-CoA retinol acyltransferase (ARAT). NA Belongs to the diacylglycerol acyltransferase family. Glycerolipid metabolism; triacylglycerol biosynthesis.;Glycerolipid metabolism;Metabolic pathways;Fat digestion and absorption;Triglyceride biosynthesis;Acyl chain remodeling of DAG and TAG PE1 11 +NX_Q96PE1 Adhesion G protein-coupled receptor A2 1338 142647 8.82 7 Filopodium;Cell membrane NA Endothelial receptor which functions together with RECK to enable brain endothelial cells to selectively respond to Wnt7 signals (WNT7A or WNT7B) (PubMed:28289266, PubMed:30026314). Plays a key role in Wnt7-specific responses, such as endothelial cell sprouting and migration in the forebrain and neural tube, and establishment of the blood-brain barrier (By similarity). Acts as a Wnt7-specific coactivator of canonical Wnt signaling: required to deliver RECK-bound Wnt7 to frizzled by assembling a higher-order RECK-ADGRA2-Fzd-LRP5-LRP6 complex (PubMed:30026314). ADGRA2-tethering function does not rely on its G-protein coupled receptor (GPCR) structure but instead on its combined capacity to interact with RECK extracellularly and recruit the Dishevelled scaffolding protein intracellularly (PubMed:30026314). Binds to the glycosaminoglycans heparin, heparin sulfate, chondroitin sulfate and dermatan sulfate (PubMed:16982628). Glycosylated.;Proteolytically cleaved into two subunits, an extracellular subunit and a seven-transmembrane subunit (PubMed:22013897, PubMed:16982628). Cleaved by thrombin (F2) and MMP1 (PubMed:22013897). Also cleaved by MMP9, with lower efficiency (PubMed:22013897, PubMed:16982628). Presence of the protein disulfide-isomerase P4HB at the cell surface is additionally required for shedding of the extracellular subunit, suggesting that the subunits are linked by disulfide bonds (PubMed:22013897). Shedding is enhanced by the growth factor FGF2 and may promote cell survival during angiogenesis (PubMed:16982628). Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE1 8 +NX_Q96PE2 Rho guanine nucleotide exchange factor 17 2063 221673 5.9 0 Cytosol NA Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases. NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 11 +NX_Q96PE3 Inositol polyphosphate-4-phosphatase type I A 977 109956 6.53 0 Cytoplasm;Cell membrane;Nucleus membrane;Nucleoplasm;Recycling endosome membrane;Postsynaptic density;Early endosome membrane;Nucleus NA Displays no 4-phosphatase activity for PtdIns(3,4)P2, Ins(3,4)P2, or Ins(1,3,4)P3.;Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (PubMed:20463662, PubMed:15716355). Catalyzes also inositol 1,3,4-trisphosphate and inositol 1,4-bisphosphate (By similarity). Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival (PubMed:30071275) (By similarity). May protect neurons from excitotoxic cell death by regulating the synaptic localization of cell surface N-methyl-D-aspartate-type glutamate receptors (NMDARs) and NMDAR-mediated excitatory postsynaptic current (By similarity). NA Belongs to the inositol 3,4-bisphosphate 4-phosphatase family. Signal transduction; phosphatidylinositol signaling pathway.;Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PIPs at the plasma membrane;Synthesis of PIPs at the early endosome membrane;Synthesis of IP2, IP, and Ins in the cytosol PE1 2 +NX_Q96PE5 Opalin 141 15683 5.83 1 Golgi apparatus;Cell membrane NA NA NA NA NA PE1 10 +NX_Q96PE6 Zinc finger imprinted 3 472 54498 9.43 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 19 +NX_Q96PE7 Methylmalonyl-CoA epimerase, mitochondrial 176 18749 9.17 0 Cytoplasm;Mitochondrion;Nucleolus Methylmalonyl-CoA epimerase deficiency NA NA Belongs to the methylmalonyl-CoA epimerase family. Valine, leucine and isoleucine degradation;Glyoxylate and dicarboxylate metabolism;Propanoate metabolism;Metabolic pathways;Propionyl-CoA catabolism PE1 2 +NX_Q96PF1 Protein-glutamine gamma-glutamyltransferase Z 710 79941 6.54 0 NA NA Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. NA Belongs to the transglutaminase superfamily. Transglutaminase family. NA PE1 15 +NX_Q96PF2 Testis-specific serine/threonine-protein kinase 2 358 40939 9.02 0 Cytoplasm;Centriole NA Testis-specific serine/threonine-protein kinase required during spermatid development. Phosphorylates TSKS at 'Ser-288' and SPAG16. Involved in the late stages of spermatogenesis, during the reconstruction of the cytoplasm. During spermatogenesis, required for the transformation of a ring-shaped structure around the base of the flagellum originating from the chromatoid body. Autophosphorylated.;Ubiquitinated; HSP90 activity negatively regulates ubiquitination and degradation.;Autophosphorylated Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. NA PE1 22 +NX_Q96PG1 Putative membrane-spanning 4-domains subfamily A member 4E 132 15209 8.42 2 Membrane NA NA NA Belongs to the MS4A family. NA PE2 11 +NX_Q96PG2 Membrane-spanning 4-domains subfamily A member 10 267 29747 9.14 4 Membrane NA May be involved in signal transduction as a component of a multimeric receptor complex. NA Belongs to the MS4A family. NA PE1 11 +NX_Q96PG8 Bcl-2-binding component 3, isoforms 3/4 261 26498 11.98 0 NA NA Does not affect cell growth. NA NA NA PE1 19 +NX_Q96PH1 NADPH oxidase 5 765 86439 8.88 7 Membrane;Endoplasmic reticulum NA Are involved in endothelial generation of reactive oxygen species (ROS), proliferation and angiogenesis and contribute to endothelial response to thrombin.;Calcium-dependent NADPH oxidase that generates superoxide. Also functions as a calcium-dependent proton channel and may regulate redox-dependent processes in lymphocytes and spermatozoa. May play a role in cell growth and apoptosis. NA NA Detoxification of Reactive Oxygen Species PE1 15 +NX_Q96PH6 Beta-defensin 118 123 13614 6.88 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE1 20 +NX_Q96PI1 Small proline-rich protein 4 79 8793 9.76 0 Cytoplasm;Cell cortex NA Cross-linked envelope protein of keratinocytes. Involved in UV-induced cornification. Cross-linked to membrane proteins by transglutaminase. Belongs to the cornifin (SPRR) family. NA PE2 1 +NX_Q96PJ5 Fc receptor-like protein 4 515 57224 6.08 1 Cell membrane NA May function as an inhibitor of the B-cell receptor signaling. May function in the B-cell-mediated immune response. Phosphorylated on cytoplasmic tyrosines upon activation. NA NA PE1 1 +NX_Q96PK6 RNA-binding protein 14 669 69492 9.68 0 Cytoplasm;Nucleus;Nucleus speckle;Nucleolus NA Functions as a transcriptional repressor, modulating transcriptional activities of coactivators including isoform 1, NCOA6 and CITED1 (PubMed:11443112). Regulates centriole biogenesis by suppressing the formation of aberrant centriolar protein complexes in the cytoplasm and thus preserving mitotic spindle integrity. Prevents the formation of the STIL-CENPJ complex (which can induce the formation of aberrant centriolar protein complexes) by interfering with the interaction of STIL with CENPJ (PubMed:25385835). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728).;May function as a nuclear receptor coactivator, enhancing transcription through other coactivators such as NCOA6 and CITED1. NA NA RUNX2 regulates bone development PE1 11 +NX_Q96PL1 Secretoglobin family 3A member 2 93 10161 6.71 0 Secreted NA Secreted cytokine-like protein (PubMed:12847263). Binds to the scavenger receptor MARCO (PubMed:12847263). Can also bind to pathogens including the Gram-positive bacterium L.monocytogenes, the Gram-negative bacterium P.aeruginosa, and yeast (PubMed:12847263). Strongly inhibits phospholipase A2 (PLA2G1B) activity (PubMed:24213919). Seems to have anti-inflammatory effects in respiratory epithelium (By similarity). Also has anti-fibrotic activity in lung (PubMed:24213919). May play a role in fetal lung development and maturation (PubMed:24213919). Promotes branching morphogenesis during early stages of lung development (PubMed:24213919). In the pituitary, may inhibit production of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) (By similarity). NA Belongs to the secretoglobin family. UGRP subfamily. Scavenging by Class A Receptors PE1 5 +NX_Q96PL2 Beta-tectorin 329 36956 8.34 0 Extracellular matrix;Cell membrane NA One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. The presence of a hydrophobic C-terminus preceded by a potential cleavage site strongly suggests that tectorins are synthesized as glycosylphosphatidylinositol-linked, membrane-bound precursors. Tectorins are targeted to the apical surface of the inner ear epithelia by the lipid and proteolytically released into the extracellular compartment. NA Post-translational modification: synthesis of GPI-anchored proteins PE2 10 +NX_Q96PL5 Erythroid membrane-associated protein 475 52605 8.75 1 Golgi apparatus;Cytoplasm;Cytosol;Cell membrane NA Possible role as a cell-adhesion or receptor molecule of erythroid cells. Glycosylated. Belongs to the immunoglobulin superfamily. BTN/MOG family. NA PE1 1 +NX_Q96PM5 RING finger and CHY zinc finger domain-containing protein 1 261 30110 6.26 0 Cytoplasm;Nucleus speckle;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA Mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including p53/TP53, P73, HDAC1 and CDKN1B. Preferentially acts on tetrameric p53/TP53. Monoubiquitinates the translesion DNA polymerase POLH. Contributes to the regulation of the cell cycle progression. Increases AR transcription factor activity. Subject to ubiquitination and proteasomal degradation. Interaction with PLAGL2 or KAT5 enhances protein stability. NA Protein modification; protein ubiquitination.;p53 signaling pathway;Ubiquitin mediated proteolysis;Measles;Antigen processing: Ubiquitination & Proteasome degradation;Translesion Synthesis by POLH PE1 4 +NX_Q96PM9 Zinc finger protein 385A 386 40454 9.88 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Dendrite NA RNA-binding protein that affects the localization and the translation of a subset of mRNA. May play a role in adipogenesis through binding to the 3'-UTR of CEBPA mRNA and regulation of its translation. Targets ITPR1 mRNA to dendrites in Purkinje cells, and may regulate its activity-dependent translation. With ELAVL1, binds the 3'-UTR of p53/TP53 mRNAs to control their nuclear export induced by CDKN2A. Hence, may regulate p53/TP53 expression and mediate in part the CDKN2A anti-proliferative activity. May also bind CCNB1 mRNA. Alternatively, may also regulate p53/TP53 activity through direct protein-protein interaction. Interacts with p53/TP53 and promotes cell-cycle arrest over apoptosis enhancing preferentially the DNA binding and transactivation of p53/TP53 on cell-cycle arrest target genes over proapoptotic target genes. May also regulate the ubiquitination and stability of CDKN1A promoting DNA damage-induced cell cycle arrest. Also plays a role in megakaryocytes differentiation. Ubiquitinated upon prolonged exposure to genotoxic stress, which leads to proteasomal degradation of ZNF385A and releases p53/TP53 from cell-cycle arrest target gene promoters. NA Transcriptional activation of cell cycle inhibitor p21;TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;Regulation of TP53 Activity through Association with Co-factors PE1 12 +NX_Q96PN6 Adenylate cyclase type 10 1610 187149 6.99 0 Cytoplasm;Mitochondrion;Cell membrane;Cilium;Perinuclear region;Nucleus;Cytoskeleton Hypercalciuria absorptive 2 Catalyzes the formation of the signaling molecule cAMP (PubMed:12609998, PubMed:15659711, PubMed:24616449, PubMed:25040695, PubMed:24567411). May function as sensor that mediates responses to changes in cellular bicarbonate and CO(2) levels (PubMed:15659711, PubMed:17591988). Has a critical role in mammalian spermatogenesis by producing the cAMP which regulates cAMP-responsive nuclear factors indispensable for sperm maturation in the epididymis. Induces capacitation, the maturational process that sperm undergo prior to fertilization (By similarity). Involved in ciliary beat regulation (PubMed:17591988). Cleavage may occur to generate the active 48 kDa form. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Purine metabolism;Hedgehog 'off' state PE1 1 +NX_Q96PN7 Transcriptional-regulating factor 1 1200 132256 6.26 0 Nucleoplasm;Nucleus;Cytosol;Nucleolus NA Binds DNA and activates transcription of CYP11A1. Interaction with CREBBP and EP300 results in a synergistic transcriptional activation of CYP11A1. NA NA NA PE1 6 +NX_Q96PN8 Testis-specific serine/threonine-protein kinase 3 268 30102 6.25 0 Nucleoplasm;Nucleus;Nucleolus NA May be involved in a signaling pathway during male germ cell development or mature sperm function. Autophosphorylated. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. NA PE1 1 +NX_Q96PP4 Testis-specific gene 13 protein 275 31778 10.07 0 NA NA NA NA NA NA PE1 7 +NX_Q96PP8 Guanylate-binding protein 5 586 66617 5.38 0 Cytoplasm;Golgi apparatus membrane NA As an activator of NLRP3 inflammasome assembly, plays a role in innate immunity and inflammation. Promotes selective NLRP3 inflammasome assembly in response to microbial and soluble, but not crystalline, agents (PubMed:22461501). Hydrolyzes GTP, but in contrast to other family members, does not produce GMP (PubMed:20180847). Isoprenylation is required for proper subcellular location. Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily. Interferon gamma signaling PE1 1 +NX_Q96PP9 Guanylate-binding protein 4 640 73165 5.73 0 Golgi apparatus;Cytoplasm;Cell membrane;Golgi apparatus membrane;Perinuclear region;Nucleus NA Binds GTP, GDP and GMP. Hydrolyzes GTP very efficiently; GDP rather than GMP is the major reaction product. Plays a role in erythroid differentiation (By similarity). NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily. Interferon gamma signaling PE1 1 +NX_Q96PQ0 VPS10 domain-containing receptor SorCS2 1159 128152 6.64 1 Dendritic spine;Synaptosome;Cell membrane;Perikaryon;Cell projection;Nucleoplasm;Cytoplasmic vesicle membrane;Recycling endosome membrane;Postsynaptic density;Early endosome membrane;Cytosol;Dendrite NA SorCS2 104 kDa chain and SorCS2 18 kDa chain together promote Schwann cell apoptosis in response to proBDNF.;The heterodimer formed by NGFR and SORCS2 functions as receptor for the precursor forms of NGF (proNGF) and BDNF (proBDNF) (PubMed:22155786, PubMed:24908487). ProNGF and proBDNF binding both promote axon growth cone collapse (in vitro) (PubMed:22155786, PubMed:24908487). Plays a role in the regulation of dendritic spine density in hippocampus neurons (By similarity). Required for normal neurite branching and extension in response to BDNF (PubMed:27457814). Plays a role in BDNF-dependent hippocampal synaptic plasticity. Together with NGFR and NTRK2, is required both for BDNF-mediated synaptic long-term depression and long-term potentiation (PubMed:27457814). ProNGF binding promotes dissociation of TRIO from the heterodimer, which leads to inactivation of RAC1 and/or RAC2 and subsequent reorganization of the actin cytoskeleton (PubMed:22155786). Together with the retromer complex subunit VPS35, required for normal expression of GRIN2A at synapses and dendritic cell membranes. Required for normal expression of the amino acid transporter SLC1A1 at the cell membrane, and thereby contributes to protect cells against oxidative stress (By similarity).;SorCS2 122 kDa chain: Does not promote Schwann cell apoptosis in response to proBDNF. Proteolytic cleavage removes a propeptide, giving rise to a 122 kDa chain that includes a cytoplasmic tail. Further cleavage gives rise to a 104 kDa chain that lacks the cytoplasmic tail, and a membrane-bound 18 kDa chain. The 104 kDa chain remains bound to the 18 kDa chain.;N-glycosylated. Belongs to the VPS10-related sortilin family. SORCS subfamily. NA PE1 4 +NX_Q96PQ1 Sialic acid-binding Ig-like lectin 12 595 64984 6.21 1 Membrane NA Putative adhesion molecule that mediates sialic-acid dependent binding to cells. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. NA Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_Q96PQ5 Putative protein phosphatase inhibitor 2-like protein 1 205 22863 4.73 0 NA NA Inhibitor of protein-phosphatase 1. NA Belongs to the protein phosphatase inhibitor 2 family. NA PE5 6 +NX_Q96PQ6 Zinc finger protein 317 595 67959 9.21 0 Nucleoplasm;Nucleus NA May function as a transcription factor. May play an important role in erythroid maturation and lymphoid proliferation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q96PQ7 Kelch-like protein 5 755 84457 6.2 0 Cytoskeleton NA NA NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 4 +NX_Q96PR1 Potassium voltage-gated channel subfamily C member 2 638 70226 8.24 6 Presynaptic cell membrane;Cell membrane;Postsynaptic cell membrane;Basolateral cell membrane;Synaptosome;Perikaryon;Membrane;Synapse;Cytosol;Apical cell membrane;Axon;Dendrite NA Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Contributes to the regulation of the fast action potential repolarization and in sustained high-frequency firing in neurons of the central nervous system. Homotetramer channels mediate delayed-rectifier voltage-dependent potassium currents that activate rapidly at high-threshold voltages and inactivate slowly. Forms tetrameric channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:15709110). Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNC1, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel. Channel properties may be modulated either by the association with ancillary subunits, such as KCNE1, KCNE2 or KCNE3 or indirectly by nitric oxide (NO) through a cGMP- and PKG-mediated signaling cascade, slowing channel activation and deactivation of delayed rectifier potassium channels (By similarity). Contributes to fire sustained trains of very brief action potentials at high frequency in retinal ganglion cells, thalamocortical and suprachiasmatic nucleus (SCN) neurons and in hippocampal and neocortical interneurons (PubMed:15709110). Sustained maximal action potential firing frequency in inhibitory hippocampal interneurons is negatively modulated by histamine H2 receptor activation in a cAMP- and protein kinase (PKA) phosphorylation-dependent manner. Plays a role in maintaining the fidelity of synaptic transmission in neocortical GABAergic interneurons by generating action potential (AP) repolarization at nerve terminals, thus reducing spike-evoked calcium influx and GABA neurotransmitter release. Required for long-range synchronization of gamma oscillations over distance in the neocortex. Contributes to the modulation of the circadian rhythm of spontaneous action potential firing in suprachiasmatic nucleus (SCN) neurons in a light-dependent manner (By similarity). Phosphorylated by PKA in cortical synaptosomes. CAMP-dependent phosphorylation inhibits channel activity (By similarity). Histamine H2 receptor- and PKA-induced phosphorylation extends action potential spike duration, reduces action potential spike amplitude, sustains maximum firing frequency in hippocampal interneurons; also reduces the incidence of high-frequency oscillations in hippocampal CA3 pyramidal cell layers. Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.2/KCNC2 sub-subfamily. Voltage gated Potassium channels;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion PE1 12 +NX_Q96PS1 FANCD2 opposite strand protein 177 20188 9.45 0 NA NA NA NA NA NA PE2 3 +NX_Q96PS6 Putative uncharacterized protein GAFA-1 74 8425 8.48 1 Membrane NA NA NA NA NA PE4 14 +NX_Q96PS8 Aquaporin-10 301 31763 6.29 6 Lipid droplet;Cell membrane;Cytoplasmic vesicle;Apical cell membrane;Nucleus NA Water channel that mediates water transport across cell membranes irrespective of the cytosolic pH (PubMed:12084581, PubMed:21733844, PubMed:23382902, PubMed:30420639). The channel is permeable to glycerol, especially when the cytosolic pH is acidified (PubMed:21733844, PubMed:30420639). Contributes to adipocyte water and glycerol permeability, and may thereby contribute to the utilization of glycerol derived from phospholipid degradation (PubMed:23382902). May contribute to water transport in the intestine (Probable).;Water channel that mediates water transport across cell membranes, but that is not permeable to glycerol. NA Belongs to the MIP/aquaporin (TC 1.A.8) family. Passive transport by Aquaporins PE1 1 +NX_Q96PT3 Double homeobox protein 5 197 22164 10.66 0 Nucleus NA NA NA Belongs to the paired homeobox family. NA PE2 unknown +NX_Q96PT4 Putative double homeobox protein 3 197 22130 10.87 0 Nucleus NA NA NA Belongs to the paired homeobox family. NA PE2 unknown +NX_Q96PU4 E3 ubiquitin-protein ligase UHRF2 802 89985 8.55 0 Nucleoplasm;Nucleus NA E3 ubiquitin-protein ligase that is an intermolecular hub protein in the cell cycle network. Through cooperative DNA and histone binding, may contribute to a tighter epigenetic control of gene expression in differentiated cells. Ubiquitinates cyclins, CCND1 and CCNE1, in an apparently phosphorylation-independent manner and induces G1 arrest. Also ubiquitinates PCNP leading to its degradation by the proteasome. E3 SUMO-, but not ubiquitin-, protein ligase for ZNF131. Autosumoylated.;May be autoubiquitinated; which may lead to proteasomal degradation.;Phosphorylated. Phosphorylation may be mediated by CDK2. NA Protein modification; protein ubiquitination.;SUMOylation of transcription cofactors PE1 9 +NX_Q96PU5 E3 ubiquitin-protein ligase NEDD4-like 975 111932 5.56 0 Golgi apparatus;Cytoplasm;Multivesicular body Periventricular nodular heterotopia 7 E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits TGF-beta signaling by triggering SMAD2 and TGFBR1 ubiquitination and proteasome-dependent degradation. Promotes ubiquitination and internalization of various plasma membrane channels such as ENaC, SCN2A/Nav1.2, SCN3A/Nav1.3, SCN5A/Nav1.5, SCN9A/Nav1.7, SCN10A/Nav1.8, KCNA3/Kv1.3, KCNH2, EAAT1, KCNQ2/Kv7.2, KCNQ3/Kv7.3 or CLC5 (PubMed:26363003, PubMed:27445338). Promotes ubiquitination and degradation of SGK1 and TNK2. Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046). Plays a role in dendrite formation by melanocytes (PubMed:23999003). Involved in the regulation of TOR signaling (PubMed:27694961). Ubiquitinates and regulates protein levels of NTRK1 once this one is activated by NGF (PubMed:27445338). Auto-ubiquitinated (PubMed:19343052). Deubiquitinated by USP36, no effect on NEDD4L protein levels. Both proteins interact and regulate each other's ubiquitination levels (PubMed:27445338).;Phosphorylated by SGK1 or PKA; which impairs interaction with SCNN. Interaction with YWHAH inhibits dephosphorylation.;NEDD4L is phosphorylated by SGK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);NEDD4L is phosphorylated by WNK1 NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Downregulation of SMAD2/3:SMAD4 transcriptional activity;Stimuli-sensing channels;Budding and maturation of HIV virion;Downregulation of TGF-beta receptor signaling PE1 18 +NX_Q96PU8 Protein quaking 341 37671 8.63 0 Cytoplasm;Nucleoplasm;Nucleus NA RNA-binding protein that plays a central role in myelinization (PubMed:16641098). Binds to the 5'-NACUAAY-N(1,20)-UAAY-3' RNA core sequence. Regulates target mRNA stability (PubMed:23630077). In addition, acts by regulating pre-mRNA splicing, mRNA export and protein translation. Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in schizophrenia (PubMed:16641098). Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in regulation of mRNA splicing of MAG pre-mRNA. Acts as a translational repressor (By similarity). Methylated by PRMT1.;Tyrosine phosphorylated at its C-terminus, probably by FYN. Phosphorylation leads to decreased mRNA-binding affinity, affecting transport and/or stabilization of MBP mRNA (By similarity). NA Signaling by BRAF and RAF fusions PE1 6 +NX_Q96PU9 Outer dense fiber protein 3 254 27710 9.9 0 Cytoplasm NA Outer dense fibers are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail. May help to maintain the passive elastic structures and elastic recoil of the sperm tail. NA Belongs to the ODF3 family. NA PE1 11 +NX_Q96PV0 Ras/Rap GTPase-activating protein SynGAP 1343 148284 9.12 0 Nucleoplasm Mental retardation, autosomal dominant 5 Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, AMPAR membrane trafficking and synaptic plasticity. Regulates AMPAR-mediated miniature excitatory postsynaptic currents. Exhibits dual GTPase-activating specificity for Ras and Rap. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits (By similarity). Phosphorylated by CaM-kinase II. Dephosphorylated upon NMDA receptor activation or SYNGAP1/MPDZ complex disruption. Phosphorylation by PLK2 promotes its activity (By similarity).;SYNGAP1 is phosphorylated by MAPK8 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);SYNGAP1 is phosphorylated by PLK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Regulation of RAS by GAPs;Signaling by RAS mutants PE1 6 +NX_Q96PV4 Paraneoplastic antigen-like protein 5 448 49934 6.33 0 NA NA NA NA Belongs to the PNMA family. NA PE1 X +NX_Q96PV6 Leukocyte receptor cluster member 8 800 88157 9.24 0 Nucleoplasm NA NA NA NA NA PE1 19 +NX_Q96PV7 Protein FAM193B 902 96543 8.18 0 Nucleoplasm;Nucleus;Cytoplasm;Nucleolus NA NA NA Belongs to the FAM193 family. NA PE1 5 +NX_Q96PX1 E3 ubiquitin ligase RNF157 679 73579 4.6 0 Golgi apparatus;Cytoplasm;Cytoplasmic vesicle NA E3 ubiquitin ligase that ubiquitinates APBB1 for its degradation by the proteasome and thus prevents apoptosis and promotes survival of neurons (PubMed:25342469). Has a dual role in neurons as it is also required for dendrite growth and maintenance for which its ligase activity is not critical (PubMed:25342469). May act as a scaffold molecule to regulate this process (PubMed:25342469). Acts as a downstream effector of the interconnected PI3K and MAPK signaling pathways and thus participates in the regulation of the cell cycle (PubMed:28655764). Phosphorylation at Ser-660, Ser-661, Ser-662 and Ser-663 downstream of the PI3K and MAPK pathways influences the E3 ligase activity and stability of RNF157 during the cell cycle in an anaphase-promoting complex/cyclosome-CDH1-dependent manner (PubMed:28655764). NA NA PE1 17 +NX_Q96PX6 Coiled-coil domain-containing protein 85A 553 59976 9.03 0 Adherens junction NA May play a role in cell-cell adhesion and epithelium development through its interaction with proteins of the beta-catenin family. NA Belongs to the CCDC85 family. NA PE1 2 +NX_Q96PX8 SLIT and NTRK-like protein 1 696 77735 6.01 1 Membrane;Secreted;Synapse Trichotillomania It is involved in synaptogenesis and promotes excitatory synapse differentiation (PubMed:27273464, PubMed:27812321). Enhances neuronal dendrite outgrowth (PubMed:16224024, PubMed:19640509). Undergoes proteolytic cleavage that results in shedding of the ectodomain and cleavage of the C-terminal cytoplasmic tail. Glycosylated. Phosphorylation at Ser-695 is necessary for proper function in promoting neurite outgrowth. Belongs to the SLITRK family. Receptor-type tyrosine-protein phosphatases PE1 13 +NX_Q96PX9 Pleckstrin homology domain-containing family G member 4B 1271 139667 6.33 0 Nucleoplasm NA NA NA NA NA PE1 5 +NX_Q96PY0 Putative uncharacterized protein PSMG3-AS1 264 28245 11.15 0 NA NA NA NA NA NA PE5 7 +NX_Q96PY5 Formin-like protein 2 1086 123321 6.98 0 Golgi apparatus;Cytosol;Cytoplasm;Cell membrane NA Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics. NA Belongs to the formin homology family. RHO GTPases Activate Formins PE1 2 +NX_Q96PY6 Serine/threonine-protein kinase Nek1 1258 142828 5.67 0 Cytoplasm;Centriolar satellite;Nucleoplasm;Centrosome;Cytosol;Nucleus Amyotrophic lateral sclerosis 24;Short-rib thoracic dysplasia 6 with or without polydactyly Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity (PubMed:20230784). Involved in DNA damage checkpoint control and for proper DNA damage repair (PubMed:20230784). In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death (PubMed:20230784). May be implicated in the control of meiosis (By similarity). Involved in cilium assembly (PubMed:21211617). NA Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. NA PE1 4 +NX_Q96PZ0 Pseudouridylate synthase 7 homolog 661 75035 5.98 0 Nucleoplasm;Nucleus Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Pseudouridylate synthase that catalyzes pseudouridylation of RNAs (PubMed:28073919, PubMed:29628141, PubMed:30778726). Acts as a regulator of protein synthesis in embryonic stem cells by mediating pseudouridylation of RNA fragments derived from tRNAs (tRFs): pseudouridylated tRFs inhibit translation by targeting the translation initiation complex (PubMed:29628141). Also catalyzes pseudouridylation of mRNAs: mediates pseudouridylation of mRNAs with the consensus sequence 5'-UGUAG-3' (PubMed:28073919). In addition to mRNAs and tRNAs, binds other types of RNAs, such as snRNAs, Y RNAs and vault RNAs, suggesting that it can catalyze pseudouridylation of many RNA types (PubMed:29628141). NA Belongs to the pseudouridine synthase TruD family. tRNA modification in the nucleus and cytosol PE1 7 +NX_Q96PZ2 Protein FAM111A 611 70196 8.77 0 Nucleoplasm;Nucleus;Cytoplasm;Nucleolus Kenny-Caffey syndrome 2;Gracile bone dysplasia Chromatin-associated protein required for PCNA loading on replication sites. Promotes S-phase entry and DNA synthesis (PubMed:24561620). May directly function at replication forks, explaining why Simian virus 40 (SV40) interacts with FAM111A to overcome host range restriction (PubMed:23093934). NA Belongs to the FAM111 family. NA PE1 11 +NX_Q96PZ7 CUB and sushi domain-containing protein 1 3564 388736 5.64 1 Membrane;Cytoplasmic vesicle NA Potential suppressor of squamous cell carcinomas. NA Belongs to the CSMD family. NA PE1 8 +NX_Q96Q04 Serine/threonine-protein kinase LMTK3 1460 153661 4.77 1 Cell junction;Membrane;Nucleoplasm;Golgi apparatus membrane;Axon;Dendrite NA Protein kinase which phosphorylates ESR1 (in vitro) and protects it against proteasomal degradation. May also regulate ESR1 levels indirectly via a PKC-AKT-FOXO3 pathway where it decreases the activity of PKC and the phosphorylation of AKT, thereby increasing binding of transcriptional activator FOXO3 to the ESR1 promoter and increasing ESR1 transcription (PubMed:21602804). Involved in endocytic trafficking of N-methyl-D-aspartate receptors (NMDAR) in neurons (By similarity). Belongs to the protein kinase superfamily. Tyr protein kinase family. NA PE1 19 +NX_Q96Q05 Trafficking protein particle complex subunit 9 1148 128530 6.17 0 Golgi apparatus;Cytoplasm;Endoplasmic reticulum;Nucleoplasm;cis-Golgi network;Cytoplasmic vesicle Mental retardation, autosomal recessive 13 Functions as an activator of NF-kappa-B through increased phosphorylation of the IKK complex. May function in neuronal cells differentiation. May play a role in vesicular transport from endoplasmic reticulum to Golgi. NA Belongs to the NIBP family. COPII-mediated vesicle transport;RAB GEFs exchange GTP for GDP on RABs PE1 8 +NX_Q96Q06 Perilipin-4 1357 134431 8.92 0 Cytoplasm;Cell membrane;Lipid droplet;Cytoplasmic vesicle;Cytosol NA May play a role in triacylglycerol packaging into adipocytes. May function as a coat protein involved in the biogenesis of lipid droplets (By similarity). NA Belongs to the perilipin family. NA PE1 19 +NX_Q96Q07 BTB/POZ domain-containing protein 9 612 69188 5.48 0 Nucleoplasm Restless legs syndrome 6 NA NA NA NA PE1 6 +NX_Q96Q11 CCA tRNA nucleotidyltransferase 1, mitochondrial 434 50128 8.14 0 Mitochondrion Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay;Retinitis pigmentosa and erythrocytic microcytosis Adds 2 C residues (CC-) to the 3' terminus of tRNA molecules instead of a complete CCA end as isoform 1 does (in vitro).;Adds and repairs the conserved 3'-CCA sequence necessary for the attachment of amino acids to the 3' terminus of tRNA molecules, using CTP and ATP as substrates. NA Belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. RNA transport;tRNA processing in the nucleus;tRNA processing in the mitochondrion PE1 3 +NX_Q96Q15 Serine/threonine-protein kinase SMG1 3661 410501 6.03 0 Nucleoplasm;Cytoplasm;Nucleus NA Serine/threonine protein kinase involved in both mRNA surveillance and genotoxic stress response pathways. Recognizes the substrate consensus sequence [ST]-Q. Plays a central role in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by phosphorylating UPF1/RENT1. Recruited by release factors to stalled ribosomes together with SMG8 and SMG9 (forming the SMG1C protein kinase complex), and UPF1 to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex which is believed to activate NMD. Also acts as a genotoxic stress-activated protein kinase that displays some functional overlap with ATM. Can phosphorylate p53/TP53 and is required for optimal p53/TP53 activation after cellular exposure to genotoxic stress. Its depletion leads to spontaneous DNA damage and increased sensitivity to ionizing radiation (IR). May activate PRKCI but not PRKCZ. Autophosphorylated. Belongs to the PI3/PI4-kinase family. mRNA surveillance pathway;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) PE1 16 +NX_Q96Q27 Ankyrin repeat and SOCS box protein 2 587 65084 7.55 0 Nucleoplasm;Cytosol;Nucleolus NA Substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.;Involved in myogenic differentiation and targets filamin FLNB for proteasomal degradation but not filamin FLNA.;Enhances adhesion of hematopoietic cells to fibronectin through targeting of filamins FLNA and FLNB for proteasomal degradation, it is transiantly expressed during hematopoietic cell differentiation. NA Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 14 +NX_Q96Q35 Flagellum-associated coiled-coil domain-containing protein 1 445 52439 6.29 0 Cytoplasm;Cell membrane;Flagellum;Cytosol;Cytoplasmic granule NA NA NA NA NA PE1 2 +NX_Q96Q40 Cyclin-dependent kinase 15 435 49023 6.68 0 Golgi apparatus;Nucleoplasm NA Serine/threonine-protein kinase that acts like an antiapoptotic protein that counters TRAIL/TNFSF10-induced apoptosis by inducing phosphorylation of BIRC5 at 'Thr-34'. NA Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. NA PE1 2 +NX_Q96Q42 Alsin 1657 183634 5.88 0 Cytosol;Cytoskeleton Infantile-onset ascending spastic paralysis;Amyotrophic lateral sclerosis 2;Juvenile primary lateral sclerosis May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity). NA NA Amyotrophic lateral sclerosis (ALS);RAB GEFs exchange GTP for GDP on RABs PE1 2 +NX_Q96Q45 Transmembrane protein 237 408 45526 6.09 4 Membrane;Cilium Joubert syndrome 14 Component of the transition zone in primary cilia. Required for ciliogenesis. NA Belongs to the TMEM237 family. NA PE1 2 +NX_Q96Q77 Calcium and integrin-binding family member 3 187 21802 4.52 0 NA NA NA NA NA NA PE1 19 +NX_Q96Q80 Derlin-3 235 26679 8.64 4 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded glycoproteins (PubMed:16449189, PubMed:22607976). May be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908). NA Belongs to the derlin family. Protein processing in endoplasmic reticulum;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis PE1 22 +NX_Q96Q83 Alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 286 33375 8.58 0 Cytoplasm;Nucleoplasm;Mitochondrion;Nucleus NA Dioxygenase that mediates demethylation of DNA and RNA containing 1-methyladenosine (m1A) (PubMed:12486230, PubMed:12594517, PubMed:16174769, PubMed:26863196, PubMed:26863410). Repairs alkylated DNA containing 1-methyladenosine (m1A) and 3-methylcytosine (m3C) by oxidative demethylation (PubMed:12486230, PubMed:12594517, PubMed:16174769, PubMed:25944111). Has a strong preference for single-stranded DNA (PubMed:12486230, PubMed:12594517, PubMed:16174769). Able to process alkylated m3C within double-stranded regions via its interaction with ASCC3, which promotes DNA unwinding to generate single-stranded substrate needed for ALKBH3 (PubMed:22055184). Also acts on RNA (PubMed:12594517, PubMed:16174769, PubMed:26863196, PubMed:26863410, PubMed:16858410). Demethylates N(1)-methyladenosine (m1A) RNA, an epigenetic internal modification of messenger RNAs (mRNAs) highly enriched within 5'-untranslated regions (UTRs) and in the vicinity of start codons (PubMed:26863196, PubMed:26863410). Requires molecular oxygen, alpha-ketoglutarate and iron (PubMed:22055184, PubMed:16858410). Ubiquitinated; undergoes 'Lys-48'-linked polyubiquitination. OTUD4 promotes USP7 and USP9X-dependent deubiquitination of 'Lys-48'-polyubiquitinated ALKBH3 promoting the repair of alkylated DNA lesions. Belongs to the alkB family. ALKBH3 mediated reversal of alkylation damage PE1 11 +NX_Q96Q89 Kinesin-like protein KIF20B 1820 210629 5.54 0 Cytoplasm;Nucleus;Growth cone;Nucleolus;Nucleoplasm;Spindle pole;Spindle;Centrosome;Cytosol;Axon;Midbody;Cytoskeleton NA Plus-end-directed motor enzyme that is required for completion of cytokinesis (PubMed:11470801, PubMed:12740395). Required for proper midbody organization and abscission in polarized cortical stem cells. Plays a role in the regulation of neuronal polarization by mediating the transport of specific cargos. Participates in the mobilization of SHTN1 and in the accumulation of PIP3 in the growth cone of primary hippocampal neurons in a tubulin and actin-dependent manner. In the developing telencephalon, cooperates with SHTN1 to promote both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex. Involved in cerebral cortex growth (By similarity). Acts as an oncogene for promoting bladder cancer cells proliferation, apoptosis inhibition and carcinogenic progression (PubMed:17409436). Phosphorylated during mitosis by CDK1 (PubMed:11470801, PubMed:12740395). Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 10 +NX_Q96Q91 Anion exchange protein 4 983 108248 6.66 12 Membrane NA Probable apical anion exchanger of the kidney cortex. NA Belongs to the anion exchanger (TC 2.A.31) family. Bicarbonate transporters PE2 5 +NX_Q96QA5 Gasdermin-A 445 49365 5.19 0 Cell membrane;Nucleoplasm;Cytosol;Perinuclear region;Nucleus NA May promote pyroptosis (Probable). Upon cleavage in vitro of genetically engineered GSDMA, the released N-terminal moiety binds to some types of lipids, such as possibly phosphatidylinositol (4,5)-bisphosphate. Homooligomerizes within the membrane and forms pores of 10 -15 nanometers (nm) of inner diameter, triggering cell death. Also binds to bacterial and mitochondrial lipids, including cardiolipin, and exhibits bactericidal activity (PubMed:27281216). The physiological relevance of these observations is unknown (Probable). NA Belongs to the gasdermin family. NA PE1 17 +NX_Q96QA6 Protein yippee-like 2 119 13577 8.21 0 Nucleolus NA NA NA Belongs to the yippee family. NA PE1 17 +NX_Q96QB1 Rho GTPase-activating protein 7 1528 170591 5.98 0 Golgi apparatus;Cytoplasm;Focal adhesion;Membrane;Nucleoplasm;Cytoplasmic vesicle NA Functions as a GTPase-activating protein for the small GTPases RHOA, RHOB, RHOC and CDC42, terminating their downstream signaling. This induces morphological changes and detachment through cytoskeletal reorganization, playing a critical role in biological processes such as cell migration and proliferation. Also functions in vivo as an activator of the phospholipase PLCD1. Active DLC1 increases cell migration velocity but reduces directionality. NA NA Rho GTPase cycle PE1 8 +NX_Q96QC0 Serine/threonine-protein phosphatase 1 regulatory subunit 10 940 99058 9.22 0 Nucleoplasm;Nucleus NA Scaffold protein which mediates the formation of the PTW/PP1 phosphatase complex by providing a binding platform to each component of the complex. The PTW/PP1 phosphatase complex plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. Mediates interaction of WDR82 and PPP1CA. Inhibitor of PPP1CA and PPP1CC phosphatase activities. Has inhibitory activity on PPP1CA only when phosphorylated. Binds to mRNA, single-stranded DNA (ssDNA), poly(A) and poly(G) homopolymers (By similarity). Phosphorylated on Ser-398 by PKA within the region necessary for interaction with PPP1CA. NA NA PE1 6 +NX_Q96QD5 DEP domain-containing protein 7 511 58310 7.62 0 Nucleoplasm;Cytosol;Nucleolus NA NA NA Belongs to the DEPDC7 family. Rho GTPase cycle PE1 11 +NX_Q96QD8 Sodium-coupled neutral amino acid transporter 2 506 56026 8.08 11 Cytoplasmic vesicle;Cell membrane NA Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of neutral amino acids and sodium ions with a stoichiometry of 1:1. May function in the transport of amino acids at the blood-brain barrier and in the supply of maternal nutrients to the fetus through the placenta. Polyubiquitination by NEDD4L regulates the degradation and the activity of SLC38A2. Belongs to the amino acid/polyamine transporter 2 family. Glutamatergic synapse;GABAergic synapse;Protein digestion and absorption;Amino acid transport across the plasma membrane;Glutamate Neurotransmitter Release Cycle PE1 12 +NX_Q96QD9 UAP56-interacting factor 318 35818 11.78 0 Nucleoplasm;Nucleus speckle;Nucleus envelope NA Required for mRNA export from the nucleus to the cytoplasm. Acts as an adapter that uses the DDX39B/UAP56-NFX1 pathway to ensure efficient mRNA export and delivering to the nuclear pore. Associates with spliced and unspliced mRNAs simultaneously with ALYREF/THOC4. NA Belongs to the UIF family. Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 3 +NX_Q96QE2 Proton myo-inositol cotransporter 648 70371 5.81 12 Nucleus membrane;Cell membrane NA H(+)-myo-inositol cotransporter (PubMed:11500374). Can also transport related stereoisomers (PubMed:11500374). Glycosylated. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Inositol transporters PE1 12 +NX_Q96QE3 ATPase family AAA domain-containing protein 5 1844 207570 9.27 0 Centriolar satellite;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA Involved in DNA damage response. Involved in a RAD9A-related damage checkpoint, a pathway that is important in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis. Modulates the RAD9A interaction with BCL2 and thereby induces DNA damages-induced apoptosis. ATR may stimulate the RAD9A dissociation. Belongs to the AAA ATPase family. NA PE1 17 +NX_Q96QE4 Leucine-rich repeat-containing protein 37B 947 105567 4.83 1 Membrane;Cytosol NA NA NA NA NA PE1 17 +NX_Q96QE5 Transcription elongation factor, mitochondrial 360 41676 9.39 0 Mitochondrion matrix;Mitochondrion;Mitochondrion nucleoid NA Transcription elongation factor which increases mitochondrial RNA polymerase processivity. Regulates transcription of the mitochondrial genome, including genes important for the oxidative phosphorylation machinery. NA Belongs to the TEFM family. NA PE1 17 +NX_Q96QF0 Rab-3A-interacting protein 476 53021 5.73 0 Cytoplasm;Lamellipodium;Nucleus;Cytoskeleton NA Guanine nucleotide exchange factor (GEF) which may activate RAB8A and RAB8B (PubMed:12221131, PubMed:26824392). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:12221131, PubMed:26824392). Mediates the release of GDP from RAB8A and RAB8B but not from RAB3A or RAB5 (PubMed:20937701, PubMed:26824392). Modulates actin organization and promotes polarized transport of RAB8A-specific vesicles to the cell surface (PubMed:12221131). Together with RAB11A, RAB8A, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis (PubMed:20890297). NA Belongs to the SEC2 family. Anchoring of the basal body to the plasma membrane;VxPx cargo-targeting to cilium;BBSome-mediated cargo-targeting to cilium;RAB GEFs exchange GTP for GDP on RABs PE1 12 +NX_Q96QF7 Acidic repeat-containing protein 691 76112 4.37 0 Cytoplasmic vesicle;Nucleus NA NA NA Belongs to the serine-aspartate repeat-containing protein (SDr) family. NA PE1 X +NX_Q96QG7 Myotubularin-related protein 9 549 63462 5.98 0 Cytoplasm;Endoplasmic reticulum;Centrosome;Ruffle membrane;Perinuclear region;Cytoskeleton NA Acts as an adapter for myotubularin-related phosphatases (PubMed:19038970, PubMed:22647598). Increases lipid phosphatase MTMR6 catalytic activity, specifically towards phosphatidylinositol 3,5-bisphosphate and MTMR6 binding affinity for phosphorylated phosphatidylinositols (PubMed:19038970, PubMed:22647598). Positively regulates lipid phosphatase MTMR7 catalytic activity (By similarity). Increases MTMR8 catalytic activity towards phosphatidylinositol 3-phosphate (PubMed:22647598). The formation of the MTMR6-MTMR9 complex, stabilizes both MTMR6 and MTMR9 protein levels (PubMed:19038970). Stabilizes MTMR8 protein levels (PubMed:22647598). Plays a role in the late stages of macropinocytosis possibly by regulating MTMR6-mediated dephosphorylation of phosphatidylinositol 3-phosphate in membrane ruffles (PubMed:24591580). Negatively regulates autophagy, in part via its association with MTMR8 (PubMed:22647598). Negatively regulates DNA damage-induced apoptosis, in part via its association with MTMR6 (PubMed:19038970, PubMed:22647598). Does not bind mono-, di- and tri-phosphorylated phosphatidylinositols, phosphatidic acid and phosphatidylserine (PubMed:19038970). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Synthesis of PIPs at the plasma membrane;Synthesis of PIPs at the late endosome membrane;Synthesis of IP2, IP, and Ins in the cytosol PE1 8 +NX_Q96QH2 PML-RARA-regulated adapter molecule 1 670 73969 9.67 0 Golgi apparatus NA May be involved in myeloid differentiation. May be involved in integrin signaling in neutrophils. Binds to PtdIns(4)P. May be phosphorylated on tyrosines.;PRAM1 is phosphorylated by NEK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA NA PE1 19 +NX_Q96QH8 Sperm acrosome-associated protein 5 159 17896 5.94 0 Secreted NA NA NA Belongs to the glycosyl hydrolase 22 family. NA PE1 X +NX_Q96QI5 Heparan sulfate glucosamine 3-O-sulfotransferase 6 342 37186 10.8 1 Golgi apparatus membrane NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to heparan sulfate. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes Simplex Virus-1 (HSV-1) and permits its entry. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate. NA Belongs to the sulfotransferase 1 family. HS-GAG biosynthesis PE1 16 +NX_Q96QK1 Vacuolar protein sorting-associated protein 35 796 91707 5.32 0 Cytoplasm;Early endosome;Membrane;Endosome;Late endosome;Lysosome Parkinson disease 17 (Microbial infection) The heterotrimeric retromer cargo-selective complex (CSC) mediates the exit of human papillomavirus from the early endosome and the delivery to the Golgi apparatus.;Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The CSC seems to associate with the cytoplasmic domain of cargo proteins predominantly via VPS35; however, these interactions seem to be of low affinity and retromer SNX proteins may also contribute to cargo selectivity thus questioning the classical function of the CSC. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins. The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5 (Probable). Required for retrograde transport of lysosomal enzyme receptor IGF2R and SLC11A2. Required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA) (PubMed:15078903, PubMed:15247922, PubMed:20164305). Required for endosomal localization of WASHC2C (PubMed:22070227, PubMed:28892079). Mediates the association of the CSC with the WASH complex via WASHC2 (PubMed:22070227, PubMed:24980502, PubMed:24819384). Required for the endosomal localization of TBC1D5 (PubMed:20923837). NA Belongs to the VPS35 family. WNT ligand biogenesis and trafficking PE1 16 +NX_Q96QK8 Small integral membrane protein 14 99 10710 5.15 1 Endoplasmic reticulum membrane NA NA NA NA NA PE1 4 +NX_Q96QP1 Alpha-protein kinase 1 1244 138861 5.83 0 Cytosol;Centrosome NA Serine/threonine-protein kinase that detects bacterial pathogen-associated molecular pattern metabolites (PAMPs) and initiates an innate immune response, a critical step for pathogen elimination and engagement of adaptive immunity (PubMed:28877472, PubMed:28222186, PubMed:30111836). Specifically recognizes and binds ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose), a potent PAMP present in all Gram-negative and some Gram-positive bacteria (PubMed:30111836). ADP-Heptose-binding stimulates its kinase activity to phosphorylate and activate TIFA, triggering proinflammatory NF-kappa-B signaling (PubMed:30111836). May be involved in monosodium urate monohydrate (MSU)-induced inflammation by mediating phosphorylation of unconventional myosin MYO9A (PubMed:27169898). May also play a role in apical protein transport by mediating phosphorylation of unconventional myosin MYO1A (PubMed:15883161). NA Belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily. NA PE1 4 +NX_Q96QR1 Secretoglobin family 3A member 1 104 10100 8.57 0 Secreted NA Secreted cytokine-like protein. Inhibits cell growth in vitro. NA Belongs to the secretoglobin family. UGRP subfamily. NA PE1 5 +NX_Q96QR8 Transcriptional activator protein Pur-beta 312 33241 5.35 0 Nucleoplasm;Nucleus NA Has capacity to bind repeated elements in single-stranded DNA such as the purine-rich single strand of the PUR element located upstream of the MYC gene. Plays a role in the control of vascular smooth muscle (VSM) alpha-actin gene transcription as repressor in myoblasts and fibroblasts. Participates in transcriptional and translational regulation of alpha-MHC expression in cardiac myocytes by binding to the purine-rich negative regulatory (PNR) element. Modulates constitutive liver galectin-3 gene transcription by binding to its promoter. May play a role in the dendritic transport of a subset of mRNAs (By similarity). NA Belongs to the PUR DNA-binding protein family. NA PE1 7 +NX_Q96QS1 Tetraspanin-32 320 34631 8.81 4 Membrane;Nucleoplasm NA NA NA Belongs to the tetraspanin (TM4SF) family. NA PE1 11 +NX_Q96QS3 Homeobox protein ARX 562 58160 5.14 0 Nucleus Mental retardation, X-linked, with or without seizures, ARX-related;Partington syndrome;Lissencephaly, X-linked 2;Agenesis of the corpus callosum, with abnormal genitalia;Epileptic encephalopathy, early infantile, 1 Transcription factor required for normal brain development. May be important for maintenance of specific neuronal subtypes in the cerebral cortex and axonal guidance in the floor plate. NA Belongs to the paired homeobox family. Bicoid subfamily. NA PE1 X +NX_Q96QS6 Serine/threonine-protein kinase H2 385 43027 9.65 0 Nucleoplasm;Cytosol;Nucleus NA NA NA Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. NA PE1 8 +NX_Q96QT4 Transient receptor potential cation channel subfamily M member 7 1865 212697 8.1 6 Membrane;Cytoplasmic vesicle;Cytosol;Cell membrane Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 Essential ion channel and serine/threonine-protein kinase. Divalent cation channel permeable to calcium and magnesium. Has a central role in magnesium ion homeostasis and in the regulation of anoxic neuronal cell death. Involved in TNF-induced necroptosis downstream of MLKL by mediating calcium influx. The kinase activity is essential for the channel function. May be involved in a fundamental process that adjusts plasma membrane divalent cation fluxes according to the metabolic state of the cell. Phosphorylates annexin A1 (ANXA1). Autophosphorylated. In the N-terminal section; belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM7 sub-subfamily.;In the C-terminal section; belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily. Mineral absorption;TRP channels PE1 15 +NX_Q96QT6 PHD finger protein 12 1004 109698 7.94 0 Nucleoplasm;Nucleus NA Acts as a transcriptional repressor. Involved in recruitment of functional SIN3A complexes to DNA. Represses transcription at least in part through the activity of an associated histone deacetylase (HDAC). May also repress transcription in a SIN3A-independent manner through recruitment of functional TLE5 complexes to DNA. NA NA NA PE1 17 +NX_Q96QU1 Protocadherin-15 1955 216069 4.94 1 Secreted;Cell membrane Deafness, autosomal recessive, 23;Usher syndrome 1F;Usher syndrome 1D/F Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function. NA NA NA PE1 10 +NX_Q96QU4 Protein FRG2-like-1 278 30564 8.29 0 Nucleus NA NA NA Belongs to the FRG2 family. NA PE2 10 +NX_Q96QU6 1-aminocyclopropane-1-carboxylate synthase-like protein 1 501 57324 6.01 0 Golgi apparatus NA Does not catalyze the synthesis of 1-aminocyclopropane-1-carboxylate but is capable of catalyzing the deamination of L-vinylglycine. NA Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. NA PE1 11 +NX_Q96QU8 Exportin-6 1125 128883 5.94 0 Cytoplasm;Cell membrane;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Mediates the nuclear export of actin and profilin-actin complexes in somatic cells. NA Belongs to the exportin family. NA PE1 16 +NX_Q96QV1 Hedgehog-interacting protein 700 78851 8.24 0 Nucleoplasm;Cytoplasm;Secreted;Cell membrane NA Modulates hedgehog signaling in several cell types including brain and lung through direct interaction with members of the hedgehog family. NA Belongs to the HHIP family. Hedgehog signaling pathway;Pathways in cancer;Basal cell carcinoma;Ligand-receptor interactions PE1 4 +NX_Q96QV6 Histone H2A type 1-A 131 14234 10.86 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Deiminated on Arg-4 in granulocytes upon calcium entry.;Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.;Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239).;Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.;Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of 'Lys-27' of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and 'Lys-63'-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend 'Lys-63'-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). H2AK119Ub and ionizing radiation-induced 'Lys-63'-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes. Belongs to the histone H2A family. Systemic lupus erythematosus;RMTs methylate histone arginines;HATs acetylate histones;HDACs deacetylate histones;UCH proteinases;Ub-specific processing proteases;Metalloprotease DUBs PE1 6 +NX_Q96QZ0 Pannexin-3 392 44683 8.48 4 Gap junction;Cell membrane NA Structural component of the gap junctions and the hemichannels. NA Belongs to the pannexin family. NA PE2 11 +NX_Q96QZ7 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1491 164581 7.3 0 Nucleoplasm;Tight junction;Cell junction;Cell membrane NA May play a role as scaffolding protein at cell-cell junctions. May regulate acid-induced ASIC3 currents by modulating its expression at the cell surface (By similarity). NA Tight junction PE1 3 +NX_Q96R05 Retinoid-binding protein 7 134 15536 7.67 0 Cytoplasm;Cytosol;Nucleus speckle NA Intracellular transport of retinol. NA Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. NA PE1 1 +NX_Q96R06 Sperm-associated antigen 5 1193 134422 4.93 0 Kinetochore;Cytoplasm;Centriolar satellite;Spindle pole;Centrosome;Spindle;Cytoplasmic granule;Midbody;Cytoskeleton NA Essential component of the mitotic spindle required for normal chromosome segregation and progression into anaphase (PubMed:11724960, PubMed:12356910, PubMed:27462074). Required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture (PubMed:17664331, PubMed:27462074). In complex with SKAP, promotes stable microtubule-kinetochore attachments. May contribute to the regulation of separase activity. May regulate AURKA localization to mitotic spindle, but not to centrosomes and CCNB1 localization to both mitotic spindle and centrosomes (PubMed:18361916, PubMed:21402792). Involved in centriole duplication. Required for CDK5RAP2, CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:26297806). In non-mitotic cells, upon stress induction, inhibits mammalian target of rapamycin complex 1 (mTORC1) association and recruits the mTORC1 component RPTOR to stress granules (SGs), thereby preventing mTORC1 hyperactivation-induced apoptosis (PubMed:23953116). May enhance GSK3B-mediated phosphorylation of other substrates, such as MAPT/TAU (PubMed:18055457). Phosphorylated by AURKA. NA NA PE1 17 +NX_Q96R08 Olfactory receptor 5B12 314 35182 6.58 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q96R09 Olfactory receptor 5B2 309 34568 8.58 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 11 +NX_Q96R27 Olfactory receptor 2M4 311 35071 8.82 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 1 +NX_Q96R28 Olfactory receptor 2M2 347 39177 7.07 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 1 +NX_Q96R30 Olfactory receptor 2V2 315 35339 8.81 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 5 +NX_Q96R45 Olfactory receptor 2A7 310 34742 8.96 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 7 +NX_Q96R47 Olfactory receptor 2A14 310 34993 8.63 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 7 +NX_Q96R48 Olfactory receptor 2A5 311 35207 9.44 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 7 +NX_Q96R54 Olfactory receptor 14A2 314 34780 8.67 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 1 +NX_Q96R67 Olfactory receptor 4C12 309 34491 8.67 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q96R69 Olfactory receptor 4F4 305 34259 8.49 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 15 +NX_Q96R72 Olfactory receptor 4K3 315 35408 8.69 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 14 +NX_Q96R84 Putative olfactory receptor 1F2 312 34944 8.92 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE5 16 +NX_Q96RA2 Olfactory receptor 7D2 312 34747 6.57 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 19 +NX_Q96RB7 Olfactory receptor 5M11 305 34450 8.7 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q96RC9 Olfactory receptor 8B4 309 34404 6.57 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q96RD0 Olfactory receptor 8B2 313 35272 9.23 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE2 11 +NX_Q96RD1 Olfactory receptor 6C1 312 35660 9.09 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 12 +NX_Q96RD2 Olfactory receptor 52B2 323 36185 8.9 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q96RD3 Olfactory receptor 52E6 313 35524 8.11 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q96RD6 Pannexin-2 677 74447 8.19 4 Gap junction;Cell membrane NA Structural component of the gap junctions and the hemichannels. NA Belongs to the pannexin family. Electric Transmission Across Gap Junctions PE1 22 +NX_Q96RD7 Pannexin-1 426 48050 5.75 4 Gap junction;Endoplasmic reticulum membrane;Cell membrane NA Structural component of the gap junctions and the hemichannels. May play a role as a Ca(2+)-leak channel to regulate ER Ca(2+) homeostasis. S-nitrosylation inhibits channel currents and ATP release. Belongs to the pannexin family. The NLRP3 inflammasome;Electric Transmission Across Gap Junctions PE1 11 +NX_Q96RD9 Fc receptor-like protein 5 977 106437 6.7 1 Cell membrane NA May be involved in B-cell development and differentiation in peripheral lymphoid organs and may be useful markers of B-cell stages. May have an immunoregulatory role in marginal zone B-cells. NA NA NA PE1 1 +NX_Q96RE7 Nucleus accumbens-associated protein 1 527 57258 5.52 0 Nucleoplasm;Cytoplasm;Nucleus;Cytoplasmic vesicle Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination Functions as a transcriptional repressor. Seems to function as a transcriptional corepressor in neuronal cells through recruitment of HDAC3 and HDAC4. Contributes to tumor progression, and tumor cell proliferation and survival. This may be mediated at least in part through repressing transcriptional activity of GADD45GIP1. Required for recruiting the proteasome from the nucleus to the cytoplasm and dendritic spines. NA NA NA PE1 19 +NX_Q96RE9 Zinc finger protein 300 604 68743 9 0 Nucleoplasm;Nucleolus;Nucleus NA Has a transcriptional repressor activity. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 5 +NX_Q96RF0 Sorting nexin-18 628 68894 5.44 0 Cell membrane;Endosome membrane;Endomembrane system;Cytoplasmic vesicle membrane;Cytosol NA Involved in endocytosis and intracellular vesicle trafficking, both during interphase and at the end of mitosis. Required for efficient progress through mitosis and cytokinesis. Required for normal formation of the cleavage furrow at the end of mitosis. Plays a role in endocytosis via clathrin-coated pits, but also clathrin-independent, actin-dependent fluid-phase endocytosis. Plays a role in macropinocytosis. Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate and promotes membrane tubulation. Stimulates the GTPase activity of DNM2. Promotes DNM2 location at the plasma membrane. NA Belongs to the sorting nexin family. Clathrin-mediated endocytosis PE1 5 +NX_Q96RG2 PAS domain-containing serine/threonine-protein kinase 1323 142929 4.75 0 Cytoplasm;Cytosol;Nucleus NA Serine/threonine-protein kinase involved in energy homeostasis and protein translation. Phosphorylates EEF1A1, GYS1, PDX1 and RPS6. Probably plays a role under changing environmental conditions (oxygen, glucose, nutrition), rather than under standard conditions. Acts as a sensor involved in energy homeostasis: regulates glycogen synthase synthesis by mediating phosphorylation of GYS1, leading to GYS1 inactivation. May be involved in glucose-stimulated insulin production in pancreas and regulation of glucagon secretion by glucose in alpha cells; however such data require additional evidences. May play a role in regulation of protein translation by phosphorylating EEF1A1, leading to increase translation efficiency. May also participate to respiratory regulation. Autophosphorylated on Thr-1161 and Thr-1165. Autophosphorylation is activated by phospholipids. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. NA PE1 2 +NX_Q96RI0 Proteinase-activated receptor 4 385 41133 9.17 7 Cytosol;Cell membrane NA Receptor for activated thrombin or trypsin coupled to G proteins that stimulate phosphoinositide hydrolysis. May play a role in platelets activation. A proteolytic cleavage generates a new N-terminus that functions as a tethered ligand. Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Peptide ligand-binding receptors;G alpha (q) signalling events;Thrombin signalling through proteinase activated receptors (PARs) PE1 19 +NX_Q96RI1 Bile acid receptor 486 55914 6.39 0 Nucleoplasm;Nucleus Cholestasis, progressive familial intrahepatic, 5 Promotes transcriptional activation of target genes ABCB11/BSEP (inducible by unconjugated CDCA, DCA and ACA), NR0B2/SHP (inducible by unconjugated CDCA DCA and ACA), SLC51B/OSTB (inducible by unconjugated CDCA and DCA) and FABP6/IBAP; not inducible by taurine- and glycine-amidated CDCA.;Ligand-activated transcription factor. Receptor for bile acids (BAs) such as chenodeoxycholic acid (CDCA), lithocholic acid, deoxycholic acid (DCA) and allocholic acid (ACA). Plays a essential role in BA homeostasis through the regulation of genes involved in BA synthesis, conjugation and enterohepatic circulation. Also regulates lipid and glucose homeostasis and is involved innate immune response (PubMed:10334992, PubMed:10334993, PubMed:21383957, PubMed:22820415). The FXR-RXR heterodimer binds predominantly to farnesoid X receptor response elements (FXREs) containing two inverted repeats of the consensus sequence 5'-AGGTCA-3' in which the monomers are spaced by 1 nucleotide (IR-1) but also to tandem repeat DR1 sites with lower affinity, and can be activated by either FXR or RXR-specific ligands. It is proposed that monomeric nuclear receptors such as NR5A2/LRH-1 bound to coregulatory nuclear responsive element (NRE) halfsites located in close proximity to FXREs modulate transcriptional activity (By similarity). In the liver activates transcription of the corepressor NR0B2 thereby indirectly inhibiting CYP7A1 and CYP8B1 (involved in BA synthesis) implicating at least in part histone demethylase KDM1A resulting in epigenomic repression, and SLC10A1/NTCP (involved in hepatic uptake of conjugated BAs). Activates transcription of the repressor MAFG (involved in regulation of BA synthesis) (By similarity). Activates transcription of SLC27A5/BACS and BAAT (involved in BA conjugation), ABCB11/BSEP (involved in bile salt export) by directly recruiting histone methyltransferase CARM1, and ABCC2/MRP2 (involved in secretion of conjugated BAs) and ABCB4 (involved in secretion of phosphatidylcholine in the small intestine) (PubMed:12754200, PubMed:15471871, PubMed:17895379). Activates transcription of SLC27A5/BACS and BAAT (involved in BA conjugation), ABCB11/BSEP (involved in bile salt export) by directly recruiting histone methyltransferase CARM1, and ABCC2/MRP2 (involved in secretion of conjugated BAs) and ABCB4 (involved in secretion of phosphatidylcholine in the small intestine) (PubMed:10514450, PubMed:15239098, PubMed:16269519). In the intestine activates FGF19 expression and secretion leading to hepatic CYP7A1 repression (PubMed:12815072, PubMed:19085950). The function also involves the coordinated induction of hepatic KLB/beta-klotho expression (By similarity). Regulates transcription of liver UGT2B4 and SULT2A1 involved in BA detoxification; binding to the UGT2B4 promoter seems to imply a monomeric transactivation independent of RXRA (PubMed:12806625, PubMed:16946559). Modulates lipid homeostasis by activating liver NR0B2/SHP-mediated repression of SREBF1 (involved in de novo lipogenesis), expression of PLTP (involved in HDL formation), SCARB1 (involved in HDL hepatic uptake), APOE, APOC1, APOC4, PPARA (involved in beta-oxidation of fatty acids), VLDLR and SDC1 (involved in the hepatic uptake of LDL and IDL remnants), and inhibiting expression of MTTP (involved in VLDL assembly (PubMed:12660231, PubMed:12554753, PubMed:15337761). Increases expression of APOC2 (promoting lipoprotein lipase activity implicated in triglyceride clearance) (PubMed:11579204). Transrepresses APOA1 involving a monomeric competition with NR2A1 for binding to a DR1 element (PubMed:11927623, PubMed:21804189). Also reduces triglyceride clearance by inhibiting expression of ANGPTL3 and APOC3 (both involved in inhibition of lipoprotein lipase) (PubMed:12891557). Involved in glucose homeostasis by modulating hepatic gluconeogenesis through activation of NR0B2/SHP-mediated repression of respective genes. Modulates glycogen synthesis (inducing phosphorylation of glycogen synthase kinase-3) (By similarity). Modulates glucose-stimulated insulin secretion and is involved in insulin resistance (PubMed:20447400). Involved in intestinal innate immunity. Plays a role in protecting the distal small intestine against bacterial overgrowth and preservation of the epithelial barrier (By similarity). Down-regulates inflammatory cytokine expression in several types of immune cells including macrophages and mononuclear cells (PubMed:21242261). Mediates trans-repression of TLR4-induced cytokine expression; the function seems to require its sumoylation and prevents N-CoR nuclear receptor corepressor clearance from target genes such as IL1B and NOS2 (PubMed:19864602). Involved in the TLR9-mediated protective mechanism in intestinal inflammation. Plays an anti-inflammatory role in liver inflammation; proposed to inhibit proinflammatory (but not antiapoptotic) NF-kappa-B signaling) (By similarity).;Promotes transcriptional activation of target genes ABCB11/BSEP (inducible by unconjugated CDCA, ACA and DCA), NR0B2/SHP (inducible by unconjugated CDCA, ACA and DCA), SLC51B/OSTB (inducible by unconjugated CDCA and DCA) and FABP6/IBAP; most efficient isoform compared to isoforms 1 to 3; not inducible by taurine- and glycine-amidated CDCA.;Promotes transcriptional activation of target genes NR0B2/SHP (inducible by unconjugated CDCA), SLC51B/OSTB (inducible by unconjugated CDCA and DCA) and FABP6/IBAP; low activity for ABCB11/BSEP (inducible by unconjugated CDCA, DCA and ACA); not inducible by taurine- and glycine-amidated CDCA.;Promotes transcriptional activation of target genes NR0B2/SHP (inducible by unconjugated CDCA), SLC51B/OSTB (inducible by unconjugated CDCA and DCA) and IBAP; low activity for ABCB11/BSEP (inducible by unconjugated CDCA, DCA and ACA); not inducible by taurine- and glycine-amidated CDCA. Methylation may increase transactivation of target genes.;Acetylated by EP300. Lys-227 as is the major acetylation site for EP300; the dynamicly regulated acetylation inhibits heterodimerization with RXRA and transactivation activity. Deacetylated by SIRT1.;Sumoylated upon ligand binding.;Phosphorylation by PKC/PRKCA increases transactivation activity by promoting association with PPARGC1A.;NR1H4 is phosphorylated by PRKCZ (Phosphothreonine:PTM-0254) Belongs to the nuclear hormone receptor family. NR1 subfamily. Bile secretion;PPARA activates gene expression;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 27-hydroxycholesterol;Nuclear Receptor transcription pathway;Endogenous sterols;Recycling of bile acids and salts;Synthesis of bile acids and bile salts;SUMOylation of intracellular receptors PE1 12 +NX_Q96RI8 Trace amine-associated receptor 6 345 38451 8.28 7 Cell membrane NA Orphan receptor. Could be a receptor for trace amines. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Amine ligand-binding receptors PE2 6 +NX_Q96RI9 Trace amine-associated receptor 9 348 39016 6.22 7 Cell membrane NA Orphan receptor. Could be a receptor for trace amines. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Amine ligand-binding receptors PE2 6 +NX_Q96RJ0 Trace amine-associated receptor 1 339 39092 8.99 7 Cell membrane NA Receptor for trace amines, including beta-phenylethylamine (b-PEA), p-tyramine (p-TYR), octopamine and tryptamine, with highest affinity for b-PEA and p-TYR. Unresponsive to classical biogenic amines, such as epinephrine and histamine and only partially activated by dopamine and serotonin. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood. The signal transduced by this receptor is mediated by the G(s)-class of G-proteins which activate adenylate cyclase. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Amine ligand-binding receptors PE2 6 +NX_Q96RJ3 Tumor necrosis factor receptor superfamily member 13C 184 18864 8.47 1 Membrane Immunodeficiency, common variable, 4 B-cell receptor specific for TNFSF13B/TALL1/BAFF/BLyS. Promotes the survival of mature B-cells and the B-cell response. NA NA Cytokine-cytokine receptor interaction;Intestinal immune network for IgA production;HTLV-I infection;Primary immunodeficiency;TNFR2 non-canonical NF-kB pathway;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway PE1 22 +NX_Q96RJ6 Fer3-like protein 166 19017 5.11 0 Nucleus NA Transcription factor that binds to the E-box and functions as inhibitor of transcription. DNA binding requires dimerization with an E protein. Inhibits transcription activation by ASCL1/MASH1 by sequestering E proteins (By similarity). NA NA NA PE1 7 +NX_Q96RK0 Protein capicua homolog 1608 163820 8.74 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus Mental retardation, autosomal dominant 45 Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development. NA NA NA PE1 19 +NX_Q96RK1 Cbp/p300-interacting transactivator 4 184 18569 5.38 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA Acts as transcriptional coactivator for TFAP2/AP-2. Enhances estrogen-dependent transactivation mediated by estrogen receptors. May function as an inhibitor of transactivation by HIF1A by disrupting HIF1A interaction with CREBBP. May be involved in regulation of gene expression during development and differentiation of blood cells, endothelial cells and mammary epithelial cells. NA Belongs to the CITED family. Activation of the TFAP2 (AP-2) family of transcription factors PE1 1 +NX_Q96RK4 Bardet-Biedl syndrome 4 protein 519 58282 6.9 0 Cytoplasm;Centriolar satellite;Cilium;Centrosome;Flagellum;Cilium membrane;Cytosol Bardet-Biedl syndrome 4 The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. NA Belongs to the BBS4 family. BBSome-mediated cargo-targeting to cilium PE1 15 +NX_Q96RL1 BRCA1-A complex subunit RAP80 719 79727 5.35 0 Nucleoplasm;Nucleus NA Ubiquitin-binding protein (PubMed:24627472). Specifically recognizes and binds 'Lys-63'-linked ubiquitin (PubMed:19328070, Ref.37). Plays a central role in the BRCA1-A complex by specifically binding 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. Also weakly binds monoubiquitin but with much less affinity than 'Lys-63'-linked ubiquitin. May interact with monoubiquitinated histones H2A and H2B; the relevance of such results is however unclear in vivo. Does not bind Lys-48'-linked ubiquitin. May indirectly act as a transcriptional repressor by inhibiting the interaction of NR6A1 with the corepressor NCOR1. Phosphorylated upon DNA damage by ATM or ATR.;Sumoylated. Belongs to the RAP80 family. G2/M DNA damage checkpoint;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Metalloprotease DUBs PE1 5 +NX_Q96RL6 Sialic acid-binding Ig-like lectin 11 698 75795 7.28 1 Membrane;Golgi apparatus;Nucleoplasm NA Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,8-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules. Phosphorylated on tyrosine residues. Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_Q96RL7 Vacuolar protein sorting-associated protein 13A 3174 360276 5.94 0 NA Choreoacanthocytosis May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane. NA Belongs to the VPS13 family. NA PE1 9 +NX_Q96RM1 Small proline-rich protein 2F 72 7805 8.73 0 Cytoplasm NA Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane (By similarity). NA Belongs to the cornifin (SPRR) family. Formation of the cornified envelope PE1 1 +NX_Q96RN1 Testis anion transporter 1 970 109006 5.86 12 Membrane Spermatogenic failure 3 Acts as a DIDS-sensitive anion exchanger mediating chloride, sulfate and oxalate transport. May fulfill critical anion exchange functions in male germ line during meiosis and hence may play a role in spermatogenesis. May be involved in a new regulatory pathway linking sulfate transport to RhoGTPase signaling in male germ cells. A critical component of the sperm annulus that is essential for correct sperm tail differentiation and motility and hence male fertility. May form a molecular complex involved in the regulation of chloride and bicarbonate ions fluxes during sperm capacitation. N-glycosylated. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. NA PE1 6 +NX_Q96RN5 Mediator of RNA polymerase II transcription subunit 15 788 86753 9.49 0 Nucleoplasm;Cytoplasm;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Required for cholesterol-dependent gene regulation. Positively regulates the Nodal signaling pathway. Ubiquitinated by TRIM11, leading to proteasomal degradation. Belongs to the Mediator complex subunit 15 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 22 +NX_Q96RP3 Urocortin-2 112 12146 11.58 0 Secreted NA Suppresses food intake, delays gastric emptying and decreases heat-induced edema. Might represent an endogenous ligand for maintaining homeostasis after stress. Glycosylated. Belongs to the sauvagine/corticotropin-releasing factor/urotensin I family. Class B/2 (Secretin family receptors) PE1 3 +NX_Q96RP7 Galactose-3-O-sulfotransferase 4 486 54166 10.2 1 Golgi stack membrane;Nucleoplasm;Cytosol NA Catalyzes the transfer of sulfate to beta-1,3-linked galactose residues in O-linked glycoproteins. Good substrates include asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc. NA Belongs to the galactose-3-O-sulfotransferase family. Protein modification; carbohydrate sulfation. PE1 7 +NX_Q96RP8 Potassium voltage-gated channel subfamily A member 7 456 50559 7.03 6 Membrane NA Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient (By similarity). NA Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.7/KCNA7 sub-subfamily. Voltage gated Potassium channels PE2 19 +NX_Q96RP9 Elongation factor G, mitochondrial 751 83471 6.58 0 Nucleoplasm;Mitochondrion Combined oxidative phosphorylation deficiency 1 Mitochondrial GTPase that catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome. Does not mediate the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis. NA Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily. Protein biosynthesis; polypeptide chain elongation.;Mitochondrial translation elongation PE1 3 +NX_Q96RQ1 Endoplasmic reticulum-Golgi intermediate compartment protein 2 377 42549 6.27 2 Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cytoplasm;Endoplasmic reticulum membrane;cis-Golgi network membrane;Nucleolus;Cytoplasmic vesicle;Nucleus NA Possible role in transport between endoplasmic reticulum and Golgi. NA Belongs to the ERGIC family. NA PE1 12 +NX_Q96RQ3 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial 725 80473 7.66 0 Mitochondrion matrix;Mitochondrion 3-methylcrotonoyl-CoA carboxylase 1 deficiency Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism. Acetylated. NA Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 2/3.;Valine, leucine and isoleucine degradation;Metabolic pathways;Branched-chain amino acid catabolism;Biotin transport and metabolism;Defective HLCS causes multiple carboxylase deficiency PE1 3 +NX_Q96RQ9 L-amino-acid oxidase 567 62881 8.79 0 Nucleoplasm;Cytosol;Lysosome NA Lysosomal L-amino-acid oxidase with highest specific activity with phenylalanine. May play a role in lysosomal antigen processing and presentation (By similarity). NA Belongs to the flavin monoamine oxidase family. FIG1 subfamily. Alanine, aspartate and glutamate metabolism;Cysteine and methionine metabolism;Valine, leucine and isoleucine degradation;Tyrosine metabolism;Phenylalanine metabolism;Tryptophan metabolism;Phenylalanine, tyrosine and tryptophan biosynthesis;Metabolic pathways;Phenylalanine metabolism PE1 19 +NX_Q96RR1 Twinkle protein, mitochondrial 684 77154 9.13 0 Mitochondrion nucleoid Perrault syndrome 5;Mitochondrial DNA depletion syndrome 7;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals. NA NA Transcriptional activation of mitochondrial biogenesis PE1 10 +NX_Q96RR4 Calcium/calmodulin-dependent protein kinase kinase 2 588 64746 6.25 0 Neuron projection;Cytoplasm;Cytosol;Nucleus NA Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade involved in a number of cellular processes.;Phosphorylate CAMK1 and CAMK4.;May promote neurite elongation, while isoform 1 may promoter neurite branching.;Phosphorylates CAMK1D.;Lacking part of the calmodulin-binding domain are inactive. Efficiently phosphorylates 5'-AMP-activated protein kinase (AMPK) trimer, including that consisting of PRKAA1, PRKAB1 and PRKAG1. This phosphorylation is stimulated in response to Ca(2+) signals (By similarity). Seems to be involved in hippocampal activation of CREB1 (By similarity). May play a role in neurite growth. Autophosphorylated and phosphorylated by PKA. Each isoform may show a different pattern of phosphorylation. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Adipocytokine signaling pathway;CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde;CaMK IV-mediated phosphorylation of CREB;Activation of AMPK downstream of NMDARs;Activation of RAC1 downstream of NMDARs PE1 12 +NX_Q96RS0 Trimethylguanosine synthase 853 96620 4.84 0 Cajal body;Cytoplasm;Cytosol;Nucleolus NA Catalyzes the 2 serial methylation steps for the conversion of the 7-monomethylguanosine (m(7)G) caps of snRNAs and snoRNAs to a 2,2,7-trimethylguanosine (m(2,2,7)G) cap structure. The enzyme is specific for guanine, and N7 methylation must precede N2 methylation. Hypermethylation of the m7G cap of U snRNAs leads to their concentration in nuclear foci, their colocalization with coilin and the formation of canonical Cajal bodies (CBs). Plays a role in transcriptional regulation. NA Belongs to the methyltransferase superfamily. Trimethylguanosine synthase family. RNA transport;snRNP Assembly;PPARA activates gene expression;RORA activates gene expression;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;Activation of gene expression by SREBF (SREBP);Transcriptional regulation of white adipocyte differentiation;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) PE1 8 +NX_Q96RS6 NudC domain-containing protein 1 583 66756 4.99 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA NA NA NA NA PE1 8 +NX_Q96RT1 Erbin 1412 158298 5.32 0 Nucleus speckle;Cell membrane;Basolateral cell membrane;Hemidesmosome;Nucleus membrane NA Acts as an adapter for the receptor ERBB2, in epithelia. By binding the unphosphorylated 'Tyr-1248' of receptor ERBB2, it may contribute to stabilize this unphosphorylated state (PubMed:16203728). Inhibits NOD2-dependent NF-kappa-B signaling and proinflammatory cytokine secretion (PubMed:16203728). NA Belongs to the LAP (LRR and PDZ) protein family. NOD-like receptor signaling pathway;Signaling by ERBB2;Downregulation of ERBB2 signaling PE1 5 +NX_Q96RT6 cTAGE family member 2 745 85282 5.85 1 Membrane NA NA NA Belongs to the cTAGE family. NA PE1 18 +NX_Q96RT7 Gamma-tubulin complex component 6 1819 200498 5.89 0 Centrosome Microcephaly and chorioretinopathy, autosomal recessive, 1 Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome. NA Belongs to the TUBGCP family. Recruitment of mitotic centrosome proteins and complexes;Recruitment of NuMA to mitotic centrosomes PE1 22 +NX_Q96RT8 Gamma-tubulin complex component 5 1024 118321 5.58 0 Cytosol;Centrosome NA Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome. NA Belongs to the TUBGCP family. Recruitment of mitotic centrosome proteins and complexes;Recruitment of NuMA to mitotic centrosomes PE1 15 +NX_Q96RU2 Ubiquitin carboxyl-terminal hydrolase 28 1077 122491 5.1 0 Nucleoplasm;Nucleus NA Deubiquitinase involved in DNA damage response checkpoint and MYC proto-oncogene stability. Involved in DNA damage induced apoptosis by specifically deubiquitinating proteins of the DNA damage pathway such as CLSPN. Also involved in G2 DNA damage checkpoint, by deubiquitinating CLSPN, and preventing its degradation by the anaphase promoting complex/cyclosome (APC/C). In contrast, it does not deubiquitinate PLK1. Specifically deubiquitinates MYC in the nucleoplasm, leading to prevent MYC degradation by the proteasome: acts by specifically interacting with isoform 1 of FBXW7 (FBW7alpha) in the nucleoplasm and counteracting ubiquitination of MYC by the SCF(FBW7) complex. In contrast, it does not interact with isoform 4 of FBXW7 (FBW7gamma) in the nucleolus, allowing MYC degradation and explaining the selective MYC degradation in the nucleolus. Deubiquitinates ZNF304, hence preventing ZNF304 degradation by the proteasome and leading to the activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) in a subset of colorectal cancers (CRC) cells (PubMed:24623306). Phosphorylated upon DNA damage at Ser-67 and Ser-714, by ATM or ATR (PubMed:16901786). Phosphorylated by PRKD1 (PubMed:24623306).;Degraded upon nickel ion level or hypoxia exposure. Belongs to the peptidase C19 family. USP28 subfamily. Ub-specific processing proteases PE1 11 +NX_Q96RU3 Formin-binding protein 1 617 71307 5.53 0 Cytoplasm;Cell cortex;Cell membrane;Clathrin-coated pit;Lysosome;Cytoplasmic vesicle;Cytoskeleton NA May act as a link between RND2 signaling and regulation of the actin cytoskeleton (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during the late stage of clathrin-mediated endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also enhances actin polymerization via the recruitment of WASL/N-WASP, which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. May be required for the lysosomal retention of FASLG/FASL. NA Belongs to the FNBP1 family. Clathrin-mediated endocytosis PE1 9 +NX_Q96RU7 Tribbles homolog 3 358 39578 8.34 0 Nucleoplasm;Nucleus NA Disrupts insulin signaling by binding directly to Akt kinases and blocking their activation. May bind directly to and mask the 'Thr-308' phosphorylation site in AKT1. Binds to ATF4 and inhibits its transcriptional activation activity. Interacts with the NF-kappa-B transactivator p65 RELA and inhibits its phosphorylation and thus its transcriptional activation activity. Interacts with MAPK kinases and regulates activation of MAP kinases. May play a role in programmed neuronal cell death but does not appear to affect non-neuronal cells. Does not display kinase activity. Inhibits the transcriptional activity of DDIT3/CHOP and is involved in DDIT3/CHOP-dependent cell death during ER stress. Can inhibit APOBEC3A editing of nuclear DNA. NA Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Tribbles subfamily. PPARA activates gene expression;PIP3 activates AKT signaling;VEGFR2 mediated vascular permeability;CD28 dependent PI3K/Akt signaling;Activation of AKT2;Negative regulation of the PI3K/AKT network PE1 20 +NX_Q96RU8 Tribbles homolog 1 372 41009 6.86 0 Cytosol;Cell membrane NA Adapter protein involved in protein degradation by interacting with COP1 ubiquitin ligase (PubMed:27041596). The COP1-binding motif is masked by autoinhibitory interactions with the protein kinase domain (PubMed:26455797). Serves to alter COP1 substrate specificity by directing the activity of COP1 toward CEBPA (PubMed:27041596). Binds selectively the recognition sequence of CEBPA (PubMed:26455797). Regulates myeloid cell differentiation by altering the expression of CEBPA in a COP1-dependent manner (By similarity). Controls macrophage, eosinophil and neutrophil differentiation via the COP1-binding domain (By similarity). Interacts with MAPK kinases and regulates activation of MAP kinases, but has no kinase activity (PubMed:15299019, PubMed:26455797). NA Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Tribbles subfamily. NA PE1 8 +NX_Q96RV3 Pecanex-like protein 1 2341 258676 6.8 10 Membrane;Nucleoplasm NA NA NA Belongs to the pecanex family. NA PE1 14 +NX_Q96RW7 Hemicentin-1 5635 613390 6.07 0 Cytoplasm;Basement membrane;Cell junction;Cleavage furrow Macular degeneration, age-related, 1 Promotes cleavage furrow maturation during cytokinesis in preimplantation embryos. May play a role in the architecture of adhesive and flexible epithelial cell junctions. May play a role during myocardial remodeling by imparting an effect on cardiac fibroblast migration. NA NA NA PE1 1 +NX_Q96RY5 Protein cramped-like 1269 134718 8.08 0 Nucleoplasm;Nucleolus;Nucleus;Cytosol NA NA NA Belongs to the cramped family. NA PE1 16 +NX_Q96RY7 Intraflagellar transport protein 140 homolog 1462 165193 5.69 0 Centrosome;Cilium;Cilium basal body Retinitis pigmentosa 80;Short-rib thoracic dysplasia 9 with or without polydactyly Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs) (PubMed:20889716, PubMed:22503633). Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance (PubMed:22503633). Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to the outer segment of photoreceptor cells (By similarity). NA NA Intraflagellar transport;Hedgehog 'off' state PE1 16 +NX_Q96S06 Lipase maturation factor 1 567 64873 9.42 5 Endoplasmic reticulum membrane Combined lipase deficiency Involved in the maturation of specific proteins in the endoplasmic reticulum. Required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway. Each LMF1 molecule chaperones 50 or more molecules of LPL. NA Belongs to the lipase maturation factor family. Assembly of active LPL and LIPC lipase complexes PE1 16 +NX_Q96S07 Proline-rich protein 25 402 40998 11.09 0 NA NA NA NA NA NA PE2 16 +NX_Q96S15 GATOR complex protein WDR24 790 88207 6.05 0 Cytoplasmic vesicle;Cytosol;Lysosome membrane NA As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway (PubMed:23723238, PubMed:27166823). Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:26449471, PubMed:26586190, PubMed:27487210). In addition to its role in regulation of the TORC1 complex, promotes the acidification of lysosomes and facilitates autophagic flux (PubMed:27166823). NA Belongs to the WD repeat WDR24 family. NA PE1 16 +NX_Q96S16 JmjC domain-containing protein 8 264 29509 6.16 0 Cytoplasm;Endoplasmic reticulum lumen NA Functions as a positive regulator of TNF-induced NF-kappa-B signaling (PubMed:27671354). Regulates angiogenesis and cellular metabolism through interaction with PKM (PubMed:27199445). N-glycosylated. NA NA PE1 16 +NX_Q96S19 Methyltransferase-like 26 204 22578 7.71 0 Golgi apparatus NA NA NA Belongs to the UPF0585 family. NA PE1 16 +NX_Q96S21 Ras-related protein Rab-40C 281 31304 9.34 0 Cell membrane NA Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the small GTPase superfamily. Rab family. Protein modification; protein ubiquitination.;RAB geranylgeranylation PE1 16 +NX_Q96S37 Solute carrier family 22 member 12 553 59630 8.61 12 Cell membrane Hypouricemia renal 1 Required for efficient urate re-absorption in the kidney. Regulates blood urate levels. Mediates saturable urate uptake by facilitating the exchange of urate against organic anions. NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. Organic anion transport;Defective SLC22A12 causes renal hypouricemia 1 (RHUC1) PE1 11 +NX_Q96S38 Ribosomal protein S6 kinase delta-1 1066 118682 4.76 0 Cytoplasm;Early endosome;Membrane;Endosome;Lysosome;Nucleus NA May be involved in transmitting sphingosine-1 phosphate (SPP)-mediated signaling into the cell (PubMed:12077123). Plays a role in the recruitment of PRDX3 to early endosomes (PubMed:15750338). NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. S6 kinase subfamily. NA PE1 1 +NX_Q96S42 Nodal homolog 347 39561 6.5 0 Secreted Heterotaxy, visceral, 5, autosomal Essential for mesoderm formation and axial patterning during embryonic development. NA Belongs to the TGF-beta family. TGF-beta signaling pathway;Signaling by NODAL;Regulation of signaling by NODAL PE1 10 +NX_Q96S44 EKC/KEOPS complex subunit TP53RK 253 28160 9.56 0 Cytoplasm;Nucleus Galloway-Mowat syndrome 4 Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:22912744, PubMed:27903914). The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:22912744, PubMed:27903914). TP53RK has ATPase activity in the context of the EKC/KEOPS complex and likely plays a supporting role to the catalytic subunit OSGEP (By similarity). Atypical protein kinase that phosphorylates 'Ser-15' of p53/TP53 protein and may therefore participate in its activation (PubMed:11546806). NA Belongs to the protein kinase superfamily. BUD32 family. tRNA modification in the nucleus and cytosol;Regulation of TP53 Activity through Phosphorylation PE1 20 +NX_Q96S52 GPI transamidase component PIG-S 555 61656 6.05 2 Endoplasmic reticulum membrane Glycosylphosphatidylinositol biosynthesis defect 18 Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates. NA Belongs to the PIGS family. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Attachment of GPI anchor to uPAR PE1 17 +NX_Q96S53 Dual specificity testis-specific protein kinase 2 571 63639 6.63 0 Nucleoplasm;Nucleus NA Dual specificity protein kinase activity catalyzing autophosphorylation and phosphorylation of exogenous substrates on both serine/threonine and tyrosine residues. Phosphorylates cofilin at 'Ser-3'. May play an important role in spermatogenesis. NA Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. NA PE1 1 +NX_Q96S55 ATPase WRNIP1 665 72133 5.73 0 Nucleoplasm;Cytoplasm;Nucleus NA Functions as a modulator of initiation or reinitiation events during DNA polymerase delta-mediated DNA synthesis. In the presence of ATP, stimulation of DNA polymerase delta-mediated DNA synthesis is decreased. Plays also a role in the innate immune defense against viruses. Stabilizes the RIG-I/DDX58 dsRNA interaction and promotes RIG-I/DDX58 'Lys-63'-linked polyubiquitination. In turn, RIG-I/DDX58 transmits the signal through mitochondrial MAVS. Sumoylated with SUMO1 and SUMO2/3. Belongs to the AAA ATPase family. RarA/MGS1/WRNIP1 subfamily. NA PE1 6 +NX_Q96S59 Ran-binding protein 9 729 77847 6.31 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA May act as scaffolding protein, and as adapter protein to couple membrane receptors to intracellular signaling pathways (Probable). Acts as a mediator of cell spreading and actin cytoskeleton rearrangement (PubMed:18710924). Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). May be involved in signaling of ITGB2/LFA-1 and other integrins (PubMed:14722085). Enhances HGF-MET signaling by recruiting Sos and activating the Ras pathway (PubMed:12147692). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but not affect estrogen-induced transactivation (PubMed:12361945, PubMed:18222118). Stabilizes TP73 isoform Alpha, probably by inhibiting its ubiquitination, and increases its proapoptotic activity (PubMed:15558019). Inhibits the kinase activity of DYRK1A and DYRK1B. Inhibits FMR1 binding to RNA. Phosphorylated in response to stress. Can be phosphorylated by the cleaved p110 form of CDC2L1 (p110C).;Ubiquitinated. Polyubiquitination targets the protein for rapid degradation via the ubiquitin system. Can be deubiquitinated by USP11. Belongs to the RANBP9/10 family. RAF/MAP kinase cascade;L1CAM interactions;MET activates RAS signaling PE1 6 +NX_Q96S65 Cysteine/serine-rich nuclear protein 1 589 63508 4.61 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Binds to the consensus sequence 5'-AGAGTG-3' and has transcriptional activator activity (By similarity). May have a tumor-suppressor function. May play a role in apoptosis. NA Belongs to the AXUD1 family. NA PE1 3 +NX_Q96S66 Chloride channel CLIC-like protein 1 551 62023 5.36 3 Endoplasmic reticulum;Golgi apparatus;Membrane;Nucleus NA Seems to act as a chloride ion channel. NA Belongs to the chloride channel MCLC family. NA PE1 1 +NX_Q96S79 Ras-like protein family member 10B 203 23229 9.55 0 Cytoplasmic vesicle;Cell membrane NA May facilitate the release of atrial natriuretic peptide by cardiomyocytes and hence play a role in the regulation of arterial pressure. NA Belongs to the small GTPase superfamily. Ras family. NA PE2 17 +NX_Q96S82 Ubiquitin-like protein 7 380 40510 4.88 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 15 +NX_Q96S86 Hyaluronan and proteoglycan link protein 3 360 40894 6.07 0 Cytosol;Extracellular matrix;Cell membrane NA May function in hyaluronic acid binding. NA Belongs to the HAPLN family. NA PE1 15 +NX_Q96S90 LysM and putative peptidoglycan-binding domain-containing protein 1 227 25003 8.59 0 Nucleoplasm NA NA NA NA NA PE1 1 +NX_Q96S94 Cyclin-L2 520 58147 10.27 0 Nucleoplasm;Nucleus speckle NA Involved in pre-mRNA splicing. May induce cell death, possibly by acting on the transcription and RNA processing of apoptosis-related factors. NA Belongs to the cyclin family. Cyclin L subfamily. NA PE1 1 +NX_Q96S95 Calcium/calmodulin-dependent protein kinase II inhibitor 2 79 8658 5.32 0 Nucleoplasm;Cytosol;Centrosome;Nucleus NA Potent and specific cellular inhibitor of CaM-kinase II (CAMK2). Traps Ca(2+)/calmodulin on CAMK2. May play an important role in the regulation of cell growth when overexpressed in colon adenocarcinoma LoVo cells. Traps Ca(2+)/calmodulin on CAMK2. NA Belongs to the CAMK2N family. NA PE1 3 +NX_Q96S96 Phosphatidylethanolamine-binding protein 4 227 25733 6.08 0 Lysosome NA Seems to promote cellular resistance to TNF-induced apoptosis by inhibiting activation of the Raf-1/MEK/ERK pathway, JNK and phosphatidylethanolamine externalization. NA Belongs to the phosphatidylethanolamine-binding protein family. NA PE1 8 +NX_Q96S97 Myeloid-associated differentiation marker 322 35274 8.53 8 Membrane;Nucleus speckle NA NA NA Belongs to the MAL family. NA PE1 19 +NX_Q96S99 Pleckstrin homology domain-containing family F member 1 279 31195 8.59 0 Perinuclear region;Nucleus;Lysosome NA May induce apoptosis through the lysosomal-mitochondrial pathway. Translocates to the lysosome initiating the permeabilization of lysosomal membrane (LMP) and resulting in the release of CTSD and CTSL to the cytoplasm. Triggers the caspase-independent apoptosis by altering mitochondrial membrane permeabilization (MMP) resulting in the release of PDCD8. NA NA NA PE1 19 +NX_Q96SA4 Serine incorporator 2 455 50742 5.81 11 Membrane;Nucleoplasm;Cell membrane NA NA NA Belongs to the TDE1 family. Serine biosynthesis PE1 1 +NX_Q96SB3 Neurabin-2 817 89334 4.91 0 Cytoplasm;Dendritic spine;Cell membrane;Adherens junction;Lamellipodium;Filopodium;Postsynaptic density;Synapse;Ruffle membrane;Nucleus;Cytoskeleton NA Seems to act as a scaffold protein in multiple signaling pathways. Modulates excitatory synaptic transmission and dendritic spine morphology. Binds to actin filaments (F-actin) and shows cross-linking activity. Binds along the sides of the F-actin. May play an important role in linking the actin cytoskeleton to the plasma membrane at the synaptic junction. Believed to target protein phosphatase 1/PP1 to dendritic spines, which are rich in F-actin, and regulates its specificity toward ion channels and other substrates, such as AMPA-type and NMDA-type glutamate receptors. Plays a role in regulation of G-protein coupled receptor signaling, including dopamine D2 receptors and alpha-adrenergic receptors. May establish a signaling complex for dopaminergic neurotransmission through D2 receptors by linking receptors downstream signaling molecules and the actin cytoskeleton. Binds to ADRA1B and RGS2 and mediates regulation of ADRA1B signaling. May confer to Rac signaling specificity by binding to both, RacGEFs and Rac effector proteins. Probably regulates p70 S6 kinase activity by forming a complex with TIAM1 (By similarity). Required for hepatocyte growth factor (HGF)-induced cell migration. Stimulation of D1 (but not D2) dopamine receptors induces Ser-94 phosphorylation. Dephosphorylation of Ser-94 is mediated mainly by PP1 and to a lesser extent by PP2A. Phosphorylation of spinophilin disrupts its association with F-actin, but does not affect its binding to PP1 (By similarity). NA NA PE1 17 +NX_Q96SB4 SRSF protein kinase 1 655 74325 5.81 0 Cytoplasm;Microsome;Cell membrane;Nucleus matrix;Nucleoplasm;Cytosol;Nucleus NA Phosphorylates SRSF1 using a directional (C-terminal to N-terminal) and a dual-track mechanism incorporating both processive phosphorylation (in which the kinase stays attached to the substrate after each round of phosphorylation) and distributive phosphorylation steps (in which the kinase and substrate dissociate after each phosphorylation event). The RS domain of SRSF1 binds first to a docking groove in the large lobe of the kinase domain of SRPK1. This induces certain structural changes in SRPK1 and/or RRM2 domain of SRSF1, allowing RRM2 to bind the kinase and initiate phosphorylation. The cycles continue for several phosphorylation steps in a processive manner (steps 1-8) until the last few phosphorylation steps (approximately steps 9-12). During that time, a mechanical stress induces the unfolding of the beta-4 motif in RRM2, which then docks at the docking groove of SRPK1. This also signals RRM2 to begin to dissociate, which facilitates SRSF1 dissociation after phosphorylation is completed.;Phosphorylates SFRS2, ZRSR2, LBR and PRM1.;Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains and is involved in the phosphorylation of SR splicing factors and the regulation of splicing. Plays a central role in the regulatory network for splicing, controlling the intranuclear distribution of splicing factors in interphase cells and the reorganization of nuclear speckles during mitosis. Can influence additional steps of mRNA maturation, as well as other cellular activities, such as chromatin reorganization in somatic and sperm cells and cell cycle progression.;Can induce splicing of exon 10 in MAPT/TAU. The ratio of isoform 1/isoform 2 plays a decisive role in determining cell fate in K-562 leukaemic cell line: isoform 2 favors proliferation where as isoform 1 favors differentiation.;Can mediate hepatitis B virus (HBV) core protein phosphorylation. It plays a negative role in the regulation of HBV replication through a mechanism not involving the phosphorylation of the core protein but by reducing the packaging efficiency of the pregenomic RNA (pgRNA) without affecting the formation of the viral core particles. NA Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. Herpes simplex infection PE1 6 +NX_Q96SB8 Structural maintenance of chromosomes protein 6 1091 126326 6.57 0 Cytoplasm;Nucleus speckle;Chromosome;Nucleoplasm;Telomere;PML body;Nucleus NA Core component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Required for recruitment of telomeres to PML nuclear bodies. SMC5-SMC6 complex may prevent transcription of episomal DNA, such as circular viral DNA genome (PubMed:26983541). Sumoylated by NSMCE2/MMS21.;Ubiquitinated.;Phosphorylated.;(Microbial infection) SMC5-SMC6 complex is degraded by the activity of Hepatitis B X protein. Belongs to the SMC family. SMC6 subfamily. SUMOylation of DNA damage response and repair proteins PE1 2 +NX_Q96SC8 Doublesex- and mab-3-related transcription factor A2 542 53356 8.05 0 Nucleoplasm;Mitochondrion;Nucleus NA May be involved in sexual development. NA Belongs to the DMRT family. NA PE1 1 +NX_Q96SD1 Protein artemis 692 78436 5.69 0 Golgi apparatus;Nucleoplasm;Nucleus Omenn syndrome;Severe combined immunodeficiency Athabaskan type;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation Required for V(D)J recombination, the process by which exons encoding the antigen-binding domains of immunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments. V(D)J recombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA double strand breaks (DSBs). These DSBs present two types of DNA end structures: hairpin sealed coding ends and phosphorylated blunt signal ends. These ends are independently repaired by the non homologous end joining (NHEJ) pathway to form coding and signal joints respectively. This protein exhibits single-strand specific 5'-3' exonuclease activity in isolation and acquires endonucleolytic activity on 5' and 3' hairpins and overhangs when in a complex with PRKDC. The latter activity is required specifically for the resolution of closed hairpins prior to the formation of the coding joint. May also be required for the repair of complex DSBs induced by ionizing radiation, which require substantial end-processing prior to religation by NHEJ. Phosphorylation on undefined residues by PRKDC may stimulate endonucleolytic activity on 5' and 3' hairpins and overhangs. PRKDC must remain present, even after phosphorylation, for efficient hairpin opening. Also phosphorylated by ATM in response to ionizing radiation (IR) and by ATR in response to ultraviolet (UV) radiation.;DCLRE1C is phosphorylated by ATR Belongs to the DNA repair metallo-beta-lactamase (DRMBL) family. Non-homologous end-joining;Primary immunodeficiency;Nonhomologous End-Joining (NHEJ) PE1 10 +NX_Q96SE0 Protein ABHD1 405 45207 5.8 1 Membrane NA NA NA Belongs to the AB hydrolase superfamily. AB hydrolase 4 family. NA PE1 2 +NX_Q96SE7 Zinc finger protein 347 839 95770 9.34 0 Nucleus;Cytoskeleton NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q96SF2 T-complex protein 1 subunit theta-like 2 557 59388 5.49 0 Cytoplasm NA Possible molecular chaperone; assists the folding of proteins upon ATP hydrolysis. NA Belongs to the TCP-1 chaperonin family. NA PE1 22 +NX_Q96SF7 T-box transcription factor TBX15 602 65757 7.05 0 Nucleoplasm;Centrosome;Nucleus Cousin syndrome Probable transcriptional regulator involved in the development of the skeleton of the limb, vertebral column and head. Acts by controlling the number of mesenchymal precursor cells and chondrocytes (By similarity). NA NA NA PE1 1 +NX_Q96SI1 BTB/POZ domain-containing protein KCTD15 283 31942 7.05 0 Golgi apparatus;Nucleoplasm NA During embryonic development, interferes with neural crest formation (By similarity). Inhibits AP2 transcriptional activity by interaction with its activation domain. NA NA Negative regulation of activity of TFAP2 (AP-2) family transcription factors PE1 19 +NX_Q96SI9 Spermatid perinuclear RNA-binding protein 672 73653 8.91 0 Cytoplasm;Nucleus NA Involved in spermatogenesis and sperm function. Plays a role in regulation of cell growth. Binds to double-stranded DNA and RNA. Binds most efficiently to poly(I:C) RNA than to poly(dI:dC) DNA. Binds also to single-stranded poly(G) RNA. Binds non-specifically to the mRNA PRM1 3'-UTR and adenovirus VA RNA (By similarity). NA NA NA PE1 9 +NX_Q96SJ8 Tetraspanin-18 248 27710 4.9 4 Membrane NA NA NA Belongs to the tetraspanin (TM4SF) family. NA PE1 11 +NX_Q96SK2 Transmembrane protein 209 561 62922 8.8 2 Membrane;Cytoplasmic vesicle;Nucleus speckle;Nucleus membrane NA NA NA NA NA PE1 7 +NX_Q96SK3 Zinc finger protein 607 696 80507 8.93 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q96SL1 Solute carrier family 49 member 4 478 52088 8.85 12 Cytoplasmic vesicle;Lysosome membrane NA Electrogenic metabolite transporter. Cleaved in lysosomes by cathepsin L between Leu-214 and Ala-261, generating a N-glycosylated N-terminal and a non-glycosylated C-terminal fragment. Belongs to the major facilitator superfamily. NA PE1 3 +NX_Q96SL4 Glutathione peroxidase 7 187 20996 8.42 0 Secreted Barrett esophagus It protects esophageal epithelia from hydrogen peroxide-induced oxidative stress. It suppresses acidic bile acid-induced reactive oxigen species (ROS) and protects against oxidative DNA damage and double-strand breaks. NA Belongs to the glutathione peroxidase family. Glutathione metabolism;Arachidonic acid metabolism;Detoxification of Reactive Oxygen Species PE1 1 +NX_Q96SL8 Flt3-interacting zinc finger protein 1 496 51996 8.59 0 Nucleoplasm;Cytoplasm;Nucleus NA May be a transcriptional repressor of NRL function in photoreceptors. Does not repress CRX-mediated transactivation (By similarity). NA NA NA PE1 19 +NX_Q96SM3 Probable carboxypeptidase X1 734 81668 6.19 0 Secreted NA May be involved in cell-cell interactions. No carboxypeptidase activity was found yet (By similarity). NA Belongs to the peptidase M14 family. NA PE1 20 +NX_Q96SN7 Protein orai-2 254 28570 8.7 4 Membrane;Nucleoplasm NA Ca(2+) release-activated Ca(2+)-like (CRAC-like) channel subunit which mediates Ca(2+) influx and increase in Ca(2+)-selective current by synergy with the Ca(2+) sensor, STIM1. NA Belongs to the Orai family. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Elevation of cytosolic Ca2+ levels;Ion homeostasis PE1 7 +NX_Q96SN8 CDK5 regulatory subunit-associated protein 2 1893 215038 5.44 0 Cytoplasm;Golgi apparatus;Cell junction;Centrosome;Cytoskeleton Microcephaly 3, primary, autosomal recessive Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter. Together with EB1/MAPRE1, may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends. Regulates centrosomal maturation by recruitment of the gamma-tubulin ring complex (gamma-TuRC) onto centrosomes (PubMed:26485573). In complex with PDE4DIP isoform 13/MMG8/SMYLE, MAPRE1 and AKAP9, contributes to microtubules nucleation and extension from the centrosome to the cell periphery (PubMed:29162697). Required for the recruitment of AKAP9 to centrosomes (PubMed:29162697). Plays a role in neurogenesis (By similarity). Phosphorylated in vitro by CDK5. NA Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 9 +NX_Q96SQ5 Zinc finger protein 587 575 65622 9.2 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q96SQ7 Protein atonal homolog 8 321 34644 10.24 0 Nucleoplasm;Cytoplasm;Nucleus speckle;Nucleus NA Transcription factor that binds a palindromic (canonical) core consensus DNA sequence 5'-CANNTG- 3' known as an E-box element, possibly as a heterodimer with other bHLH proteins (PubMed:24236640). Regulates endothelial cell proliferation, migration and tube-like structures formation (PubMed:24463812). Modulates endothelial cell differentiation through NOS3 (PubMed:24463812). May be implicated in specification and differentiation of neuronal cell lineages in the brain (By similarity). May participate in kidney development and may be involved in podocyte differentiation (By similarity). During early embryonic development is involved in tissue-specific differentiation processes that are dependent on class II bHLH factors and namely modulates the differentiation program initiated by the pro-endocrine factor NEUROG3 (By similarity). During myogenesis, may play a role during the transition of myoblasts from the proliferative phase to the differentiation phase (By similarity). Positively regulates HAMP transcription in two ways, firstly by acting directly on the HAMP promoter via E-boxes binding and indirectly through increased phosphorylation of SMAD protein complex (PubMed:24236640). Repress NEUROG3-dependent gene activation in a gene-specific manner through at least two mechanisms; requires only either the sequestering of a general partner such as TCF3 through heterodimerization, either also requires binding of the bHLH domain to DNA via a basic motif (By similarity). NA NA NA PE2 2 +NX_Q96SQ9 Cytochrome P450 2S1 504 55817 8.8 0 Microsome membrane;Endoplasmic reticulum;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of retinoids and eicosanoids (PubMed:12711469, PubMed:21068195). In epidermis, may contribute to the oxidative metabolism of all-trans-retinoic acid. For this activity, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:12711469). Additionally, displays peroxidase and isomerase activities toward various oxygenated eicosanoids such as prostaglandin H2 (PGH2) and hydroperoxyeicosatetraenoates (HPETEs) (PubMed:21068195). Independently of cytochrome P450 reductase, NADPH, and O2, catalyzes the breakdown of PGH2 to hydroxyheptadecatrienoic acid (HHT) and malondialdehyde (MDA), which is known to act as a mediator of DNA damage (PubMed:21068195). NA Belongs to the cytochrome P450 family. Lipid metabolism; fatty acid metabolism.;Metabolism of xenobiotics by cytochrome P450;Miscellaneous substrates;Xenobiotics;CYP2E1 reactions PE1 19 +NX_Q96SR6 Zinc finger protein 382 550 64010 9.42 0 Nucleus speckle;Nucleus NA Functions as a sequence-specific transcriptional repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q96ST2 Protein IWS1 homolog 819 91955 4.58 0 Nucleoplasm;Nucleus NA Transcription factor which plays a key role in defining the composition of the RNA polymerase II (RNAPII) elongation complex and in modulating the production of mature mRNA transcripts. Acts as an assembly factor to recruit various factors to the RNAPII elongation complex and is recruited to the complex via binding to the transcription elongation factor SUPT6H bound to the C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex recruits mRNA export factors (ALYREF/THOC4, EXOSC10) as well as histone modifying enzymes (such as SETD2) to ensure proper mRNA splicing, efficient mRNA export and elongation-coupled H3K36 methylation, a signature chromatin mark of active transcription. NA Belongs to the IWS1 family. Formation of RNA Pol II elongation complex;RNA Polymerase II Pre-transcription Events;RNA Polymerase II Transcription Elongation PE1 2 +NX_Q96ST3 Paired amphipathic helix protein Sin3a 1273 145175 6.82 0 Nucleoplasm;Nucleus;Nucleolus Witteveen-Kolk syndrome Acts as a transcriptional repressor. Corepressor for REST. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Also interacts with MXD1-MAX heterodimers to repress transcription by tethering SIN3A to DNA. Acts cooperatively with OGT to repress transcription in parallel with histone deacetylation. Involved in the control of the circadian rhythms. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex through histone deacetylation. Cooperates with FOXK1 to regulate cell cycle progression probably by repressing cell cycle inhibitor genes expression (By similarity). Required for cortical neuron differentiation and callosal axon elongation (By similarity). SUMO1 sumoylated by TOPORS. Probably desumoylated by SENP2. NA Huntington's disease;Factors involved in megakaryocyte development and platelet production;NoRC negatively regulates rRNA expression;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;SUMOylation of transcription cofactors;Regulation of MECP2 expression and activity;MECP2 regulates neuronal receptors and channels;MECP2 regulates transcription of neuronal ligands;Loss of MECP2 binding ability to 5mC-DNA;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 15 +NX_Q96ST8 Centrosomal protein of 89 kDa 783 89590 6.36 0 Centriole;Cell membrane;Mitochondrion intermembrane space;Spindle pole;Centrosome;Cytosol NA Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity. NA NA Anchoring of the basal body to the plasma membrane PE1 19 +NX_Q96SU4 Oxysterol-binding protein-related protein 9 736 83185 5.77 0 Golgi apparatus;Cytoplasm;trans-Golgi network membrane;Cytoplasmic vesicle;Late endosome membrane NA NA NA Belongs to the OSBP family. Synthesis of bile acids and bile salts PE1 1 +NX_Q96SW2 Protein cereblon 442 50546 5.41 0 Membrane;Cytoplasm;Nucleus Mental retardation, autosomal recessive 2A Substrate recognition component of a DCX (DDB1-CUL4-X-box) E3 protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as MEIS2. Normal degradation of key regulatory proteins is required for normal limb outgrowth and expression of the fibroblast growth factor FGF8. May play a role in memory and learning by regulating the assembly and neuronal surface expression of large-conductance calcium-activated potassium channels in brain regions involved in memory and learning via its interaction with KCNT1. Binding of pomalidomide and other thalidomide-related drugs changes the substrate specificity of the human protein, leading to decreased degradation of MEIS2 and other target proteins and increased degradation of MYC, IRF4, IKZF1 and IKZF3. Ubiquitinated, ubiquitination is mediated by its own DCX protein ligase complex. Belongs to the CRBN family. Protein modification; protein ubiquitination. PE1 3 +NX_Q96SY0 Integrator complex subunit 14 518 57471 4.99 0 Cytoplasm;Mitochondrion;Nucleus membrane;Nucleoplasm;Nucleus NA Probable component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. NA Belongs to the INTS14 family. RNA polymerase II transcribes snRNA genes PE1 15 +NX_Q96SZ4 Zinc finger and SCAN domain-containing protein 10 725 80387 9.17 0 Nucleus NA Embryonic stem (ES) cell-specific transcription factor required to maintain ES cell pluripotency. Can both activate and /or repress expression of target genes, depending on the context. Specifically binds the 5'-[GA]CGCNNGCG[CT]-3' DNA consensus sequence. Regulates expression of POU5F1/OCT4, ZSCAN4 and ALYREF/THOC4. Methylated at Gln-428 by N6AMT1. NA Transcriptional regulation of pluripotent stem cells PE1 16 +NX_Q96SZ5 2-aminoethanethiol dioxygenase 270 29751 5.68 0 NA NA NA NA NA Taurine and hypotaurine metabolism;Metabolic pathways;Degradation of cysteine and homocysteine PE1 10 +NX_Q96SZ6 CDK5 regulatory subunit-associated protein 1 601 67689 8.52 0 Nucleus speckle;Mitochondrion NA Specifically inhibits CDK5 activation by CDK5R1. NA Belongs to the methylthiotransferase family. MiaB subfamily. NA PE1 20 +NX_Q96T17 MAP7 domain-containing protein 2 732 81965 8.95 0 Nucleoplasm;Cytosol NA NA NA Belongs to the MAP7 family. NA PE1 X +NX_Q96T21 Selenocysteine insertion sequence-binding protein 2 854 95462 8.31 0 Nucleoplasm;Mitochondrion;Nucleus Abnormal thyroid hormone metabolism Binds to the SECIS element in the 3'-UTR of some mRNAs encoding selenoproteins. Binding is stimulated by SELB. NA NA Selenocysteine synthesis PE1 9 +NX_Q96T23 Remodeling and spacing factor 1 1441 163821 4.94 0 Nucleoplasm;Nucleus NA Required for assembly of regular nucleosome arrays by the RSF chromatin-remodeling complex (PubMed:12972596). Facilitates transcription of hepatitis B virus (HBV) genes by the pX transcription activator. In case of infection by HBV, together with pX, it represses TNF-alpha induced NF-kappa-B transcription activation. Represses transcription when artificially recruited to chromatin by fusion to a heterogeneous DNA binding domain (PubMed:11944984, PubMed:11788598). NA NA Deposition of new CENPA-containing nucleosomes at the centromere PE1 11 +NX_Q96T25 Zinc finger protein ZIC 5 663 68448 9.01 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Essential for neural crest development, converting cells from an epidermal fate to a neural crest cell fate. Binds to DNA (By similarity). NA Belongs to the GLI C2H2-type zinc-finger protein family. NA PE1 13 +NX_Q96T37 RNA-binding protein 15 977 107189 10.09 0 Nucleoplasm;Nucleus speckle;Nucleus envelope;Nucleus membrane NA RNA-binding protein that acts as a key regulator of N6-methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as hematopoietic cell homeostasis, alternative splicing of mRNAs and X chromosome inactivation mediated by Xist RNA (PubMed:27602518). Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (By similarity). Plays a key role in m6A methylation, possibly by binding target RNAs and recruiting the WMM complex (PubMed:27602518). Involved in random X inactivation mediated by Xist RNA: acts by binding Xist RNA and recruiting the WMM complex, which mediates m6A methylation, leading to target YTHDC1 reader on Xist RNA and promoting transcription repression activity of Xist (PubMed:27602518). Required for the development of multiple tissues, such as the maintenance of the homeostasis of long-term hematopoietic stem cells and for megakaryocyte (MK) and B-cell differentiation (By similarity). Regulates megakaryocyte differentiation by regulating alternative splicing of genes important for megakaryocyte differentiation; probably regulates alternative splicing via m6A regulation (PubMed:26575292). Required for placental vascular branching morphogenesis and embryonic development of the heart and spleen (By similarity). Acts as a regulator of thrombopoietin response in hematopoietic stem cells by regulating alternative splicing of MPL (By similarity). May also function as an mRNA export factor, stimulating export and expression of RTE-containing mRNAs which are present in many retrotransposons that require to be exported prior to splicing (PubMed:17001072, PubMed:19786495). High affinity binding of pre-mRNA to RBM15 may allow targeting of the mRNP to the export helicase DBP5 in a manner that is independent of splicing-mediated NXF1 deposition, resulting in export prior to splicing (PubMed:17001072, PubMed:19786495). May be implicated in HOX gene regulation (PubMed:11344311). Methylated at Arg-578 by PRMT1, leading to promote ubiquitination by CNOT4 and subsequent degradation by the proteasome.;Ubiquitinated by CNOT4 following methylation at Arg-578 by PRMT1. Belongs to the RRM Spen family. NA PE1 1 +NX_Q96T49 Protein phosphatase 1 regulatory inhibitor subunit 16B 567 63551 6.06 0 Nucleus speckle;Cell projection;Nucleus;Cell membrane NA Regulator of protein phosphatase 1 (PP1) that acts as a positive regulator of pulmonary endothelial cell (EC) barrier function (PubMed:18586956). Involved in the regulation of the PI3K/AKT signaling pathway, angiogenesis and endothelial cell proliferation (PubMed:25007873). Regulates angiogenesis and endothelial cell proliferation through the control of ECE1 dephosphorylation, trafficking and activity (By similarity). Protects the endothelial barrier from lipopolysaccharide (LPS)-induced vascular leakage (By similarity). Involved in the regulation of endothelial cell filopodia extension (By similarity). May be a downstream target for TGF-beta1 signaling cascade in endothelial cells (PubMed:16263087, PubMed:18586956). Involved in PKA-mediated moesin dephosphorylation which is important in EC barrier protection against thrombin stimulation (PubMed:18586956). Promotes the interaction of PPP1CA with RPSA/LAMR1 and in turn facilitates the dephosphorylation of RPSA/LAMR1 (PubMed:16263087). Involved in the dephosphorylation of EEF1A1 (PubMed:26497934). Phosphorylated by PKA and, after PKA priming, by GSK3B. Phosphorylation by GSK3B reduces its association with PP1C and enhances PP1C activity. Dephosphorylation by its associated PP1C results in enhanced association with PP1C, but reduced PP1C activity (By similarity). NA NA PE1 20 +NX_Q96T51 RUN and FYVE domain-containing protein 1 708 79818 5.54 0 Cytoplasm;Nucleus speckle;Early endosome membrane;Cytoplasmic vesicle;Cytosol NA Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in early endosomal trafficking. Phosphorylation on Tyr-389 and/or Tyr-400 is required for interaction with BMX and endosomal targeting. NA Endocytosis;Synthesis of PIPs at the plasma membrane PE1 5 +NX_Q96T52 Mitochondrial inner membrane protease subunit 2 175 19718 9.43 1 Mitochondrion inner membrane;Mitochondrion Gilles de la Tourette syndrome Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space. Known to process the nuclear encoded protein DIABLO. NA Belongs to the peptidase S26 family. IMP2 subfamily. Protein export PE1 7 +NX_Q96T53 Ghrelin O-acyltransferase 435 49716 8.82 7 Golgi apparatus;Endoplasmic reticulum membrane NA Mediates the octanoylation of ghrelin at 'Ser-3'. Can use a variety of fatty acids as substrates including octanoic acid, decanoic acid and tetradecanoic acid. NA Belongs to the membrane-bound acyltransferase family. Synthesis, secretion, and deacylation of Ghrelin PE1 8 +NX_Q96T54 Potassium channel subfamily K member 17 332 36895 8.61 4 Membrane;Nucleoplasm;Cytosol;Cell membrane NA Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents. NA Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. TWIK-related alkaline pH activated K+ channel (TALK);Phase 4 - resting membrane potential PE1 6 +NX_Q96T55 Potassium channel subfamily K member 16 309 34153 8.94 4 Membrane NA Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents. NA Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. TWIK-related alkaline pH activated K+ channel (TALK);Phase 4 - resting membrane potential PE1 6 +NX_Q96T58 Msx2-interacting protein 3664 402248 7.35 0 Nucleoplasm;Nucleus NA May serve as a nuclear matrix platform that organizes and integrates transcriptional responses. In osteoblasts, supports transcription activation: synergizes with RUNX2 to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Has also been shown to be an essential corepressor protein, which probably regulates different key pathways such as the Notch pathway. Negative regulator of the Notch pathway via its interaction with RBPSUH, which prevents the association between NOTCH1 and RBPSUH, and therefore suppresses the transactivation activity of Notch signaling. Blocks the differentiation of precursor B-cells into marginal zone B-cells. Probably represses transcription via the recruitment of large complexes containing histone deacetylase proteins. May bind both to DNA and RNA. SPEN is phosphorylated by MAPK3 Belongs to the RRM Spen family. NA PE1 1 +NX_Q96T59 CMT1A duplicated region transcript 15 protein 188 20651 8.31 0 Cell membrane NA NA NA NA NA PE1 17 +NX_Q96T60 Bifunctional polynucleotide phosphatase/kinase 521 57076 8.73 0 Nucleoplasm;Nucleolus;Nucleus Microcephaly, seizures, and developmental delay;Ataxia-oculomotor apraxia 4 Plays a key role in the repair of DNA damage, functioning as part of both the non-homologous end-joining (NHEJ) and base excision repair (BER) pathways. Through its two catalytic activities, PNK ensures that DNA termini are compatible with extension and ligation by either removing 3'-phosphates from, or by phosphorylating 5'-hydroxyl groups on, the ribose sugar of the DNA backbone. NA In the N-terminal section; belongs to the DNA 3' phosphatase family. APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway PE1 19 +NX_Q96T66 Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 252 28322 9.28 0 Mitochondrion NA Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate (TrMP) as substrate. Can also use GTP and ITP as nucleotide donors. Also catalyzes the reverse reaction, i.e. The pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, can use NAD(+), NADH, NaAD, nicotinic acid adenine dinucleotide phosphate (NHD), nicotinamide guanine dinucleotide (NGD) as substrates. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+). Protects against axonal degeneration following injury. NA Belongs to the eukaryotic NMN adenylyltransferase family. Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from nicotinamide D-ribonucleotide: step 1/1.;Cofactor biosynthesis; NAD(+) biosynthesis; deamido-NAD(+) from nicotinate D-ribonucleotide: step 1/1.;Nicotinate and nicotinamide metabolism;Metabolic pathways;Nicotinate metabolism PE1 3 +NX_Q96T68 Histone-lysine N-methyltransferase SETDB2 719 81894 7.62 0 Nucleoplasm;Nucleus;Chromosome NA Histone methyltransferase involved in left-right axis specification in early development and mitosis. Specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3K9me3 is a specific tag for epigenetic transcriptional repression that recruits HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Contributes to H3K9me3 in both the interspersed repetitive elements and centromere-associated repeats. Plays a role in chromosome condensation and segregation during mitosis. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Lysine degradation;PKMTs methylate histone lysines PE1 13 +NX_Q96T75 Down syndrome critical region protein 8 97 10969 8.71 0 NA NA NA NA NA NA PE1 21 +NX_Q96T76 MMS19 nucleotide excision repair protein homolog 1030 113290 5.92 0 Nucleoplasm;Spindle;Nucleus NA Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into apoproteins specifically involved in DNA metabolism and genomic integrity. In the CIA complex, MMS19 acts as an adapter between early-acting CIA components and a subset of cellular target iron-sulfur proteins such as ERCC2/XPD, FANCJ and RTEL1, thereby playing a key role in nucleotide excision repair (NER), homologous recombination-mediated double-strand break DNA repair, DNA replication and RNA polymerase II (POL II) transcription (PubMed:22678362, PubMed:22678361, PubMed:29225034, PubMed:23585563). As part of the mitotic spindle-associated MMXD complex, plays a role in chromosome segregation, probably by facilitating iron-sulfur cluster assembly into ERCC2/XPD (PubMed:20797633). Indirectly acts as a transcriptional coactivator of estrogen receptor (ER), via its role in iron-sulfur insertion into some component of the TFIIH-machinery (PubMed:11279242). Ubiquitinated; undergoes 'Lys-48'-linked polyubiquitination by MAGEF1-NSMCE1 ubiquitin ligase complex leading to proteasomal degradation. Belongs to the MET18/MMS19 family. Cytosolic iron-sulfur cluster assembly PE1 10 +NX_Q96T83 Sodium/hydrogen exchanger 7 725 80131 5.97 14 Cytoplasmic vesicle;trans-Golgi network membrane;Recycling endosome membrane;Cell membrane Intellectual developmental disorder, X-linked 108 Mediates electroneutral exchange of protons for Na(+) and K(+) across endomembranes. May contribute to the regulation of Golgi apparatus volume and pH. N-glycosylated. Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. Sodium/Proton exchangers PE1 X +NX_Q96T88 E3 ubiquitin-protein ligase UHRF1 793 89814 7.66 0 Nucleoplasm;Nucleus NA Multidomain protein that acts as a key epigenetic regulator by bridging DNA methylation and chromatin modification. Specifically recognizes and binds hemimethylated DNA at replication forks via its YDG domain and recruits DNMT1 methyltransferase to ensure faithful propagation of the DNA methylation patterns through DNA replication. In addition to its role in maintenance of DNA methylation, also plays a key role in chromatin modification: through its tudor-like regions and PHD-type zinc fingers, specifically recognizes and binds histone H3 trimethylated at 'Lys-9' (H3K9me3) and unmethylated at 'Arg-2' (H3R2me0), respectively, and recruits chromatin proteins. Enriched in pericentric heterochromatin where it recruits different chromatin modifiers required for this chromatin replication. Also localizes to euchromatic regions where it negatively regulates transcription possibly by impacting DNA methylation and histone modifications. Has E3 ubiquitin-protein ligase activity by mediating the ubiquitination of target proteins such as histone H3 and PML. It is still unclear how E3 ubiquitin-protein ligase activity is related to its role in chromatin in vivo. May be involved in DNA repair. Ubiquitinated; which leads to proteasomal degradation. Autoubiquitinated; interaction with USP7 leads to deubiquitination and prevents degradation. Ubiquitination and degradation takes place during M phase, when phosphorylation at Ser-639 prevents interaction with USP7 and subsequent deubiquitination. Polyubiquitination may be stimulated by DNA damage.;Phosphorylation at Ser-298 of the linker region decreases the binding to H3K9me3. Phosphorylation at Ser-639 by CDK1 during M phase impairs interaction with USP7, preventing deubiquitination and leading to degradation by the proteasome. NA Protein modification; protein ubiquitination.;DNA methylation PE1 19 +NX_Q96T91 Glycoprotein hormone alpha-2 129 14163 8.58 0 Cytoplasmic vesicle;Secreted NA Functions as a heterodimeric glycoprotein hormone with GPHB5 able to bind and activate the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production (PubMed:12045258). Plays a central role in controlling thyroid cell metabolism (PubMed:12045258). Glycosylated. Belongs to the glycoprotein hormones subunit alpha family. G alpha (s) signalling events;Hormone ligand-binding receptors PE1 11 +NX_Q96T92 Insulinoma-associated protein 2 566 59491 9.46 0 Cytoplasm;Nucleoplasm;Nucleus NA May function as a growth suppressor or tumor suppressor in liver cells and in certain neurons. NA NA NA PE1 14 +NX_Q96TA0 Putative protocadherin beta-18 734 80449 4.84 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. NA NA NA PE5 5 +NX_Q96TA1 Protein Niban 2 746 84138 5.82 0 Cell membrane;Adherens junction;Membrane;Nucleoplasm;Cytosol NA May play a role in apoptosis suppression. May promote melanoma cell invasion in vitro. As apoptosis proceeds, degraded via an proteasome-independent pathway, probably by caspases.;Phosphorylated at Ser-641, Ser-646, Ser-692 and Ser-696 by the BRAF/MKK/ERK signaling cascade. In melanoma cells, the C-terminal phosphorylation may prevent targeting to the plasma membrane. Belongs to the Niban family. NA PE1 9 +NX_Q96TA2 ATP-dependent zinc metalloprotease YME1L1 773 86455 8.86 1 Mitochondrion inner membrane;Mitochondrion;Nucleus Optic atrophy 11 ATP-dependent metalloprotease that catalyzes the degradation of folded and unfolded proteins with a suitable degron sequence in the mitochondrial intermembrane region (PubMed:26923599, PubMed:27786171). Plays an important role in regulating mitochondrial morphology and function by cleaving OPA1 at position S2, giving rise to a form of OPA1 that promotes maintenance of normal mitochondrial structure and mitochondrial protein metabolism (PubMed:18076378, PubMed:26923599, PubMed:27495975). Ensures cell proliferation, maintains normal cristae morphology and complex I respiration activity, promotes antiapoptotic activity and protects mitochondria from the accumulation of oxidatively damaged membrane proteins (PubMed:22262461). Required for normal, constitutive degradation of PRELID1 (PubMed:27495975). Catalyzes the degradation of OMA1 in response to membrane depolarization (PubMed:26923599). Required to control the accumulation of nonassembled respiratory chain subunits (NDUFB6, OX4 and ND1) (PubMed:22262461). Proteolytically processed by mitochondrial processing peptidase (MPP) to generate the mature form. In the N-terminal section; belongs to the AAA ATPase family.;In the C-terminal section; belongs to the peptidase M41 family. Processing of SMDT1 PE1 10 +NX_Q96TC7 Regulator of microtubule dynamics protein 3 470 52118 5.02 1 Mitochondrion outer membrane;Cytoplasm;Mitochondrion;Spindle pole;Mitochondrion membrane;Spindle;Nucleus;Cytoskeleton NA Involved in cellular calcium homeostasis regulation. May participate in differentiation and apoptosis of keratinocytes. Overexpression induces apoptosis. NA Belongs to the RMDN family. NA PE1 15 +NX_Q99062 Granulocyte colony-stimulating factor receptor 836 92156 5.76 1 Secreted;Cell membrane Hereditary neutrophilia;Neutropenia, severe congenital 7, autosomal recessive Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differientation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface. N-glycosylated. Belongs to the type I cytokine receptor family. Type 2 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Hematopoietic cell lineage;Pathways in cancer;Other interleukin signaling;Transcriptional regulation of granulopoiesis PE1 1 +NX_Q99075 Proheparin-binding EGF-like growth factor 208 23067 9.47 1 Cell membrane;Extracellular space NA Growth factor that mediates its effects via EGFR, ERBB2 and ERBB4. Required for normal cardiac valve formation and normal heart function. Promotes smooth muscle cell proliferation. May be involved in macrophage-mediated cellular proliferation. It is mitogenic for fibroblasts, but not endothelial cells. It is able to bind EGF receptor/EGFR with higher affinity than EGF itself and is a far more potent mitogen for smooth muscle cells than EGF. Also acts as a diphtheria toxin receptor. O-glycosylated with core 1 or possibly core 8 glycans. Thr-47 is a minor glycosylation site compared to Thr-44.;Several N-termini have been identified by direct sequencing. The forms with N-termini 63, 73 and 74 have been tested and found to be biologically active. NA ErbB signaling pathway;GnRH signaling pathway;Epithelial cell signaling in Helicobacter pylori infection;RAF/MAP kinase cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;EGFR downregulation;Signaling by ERBB2;Signaling by ERBB4;SHC1 events in ERBB2 signaling;PI3K events in ERBB4 signaling;SHC1 events in ERBB4 signaling;Nuclear signaling by ERBB4;GRB2 events in ERBB2 signaling;PI3K events in ERBB2 signaling;EGFR Transactivation by Gastrin;Uptake and function of diphtheria toxin;Signaling by EGFR;GAB1 signalosome;GRB2 events in EGFR signaling;SHC1 events in EGFR signaling;EGFR interacts with phospholipase C-gamma;Inhibition of Signaling by Overexpressed EGFR;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;ERBB2 Regulates Cell Motility;ERBB2 Activates PTK6 Signaling;PTK6 promotes HIF1A stabilization;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Downregulation of ERBB2 signaling;Extra-nuclear estrogen signaling;Estrogen-dependent nuclear events downstream of ESR-membrane signaling PE1 5 +NX_Q99081 Transcription factor 12 682 72965 6.52 0 Nucleoplasm;Nucleus speckle;Nucleus Craniosynostosis 3 Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). NA NA HTLV-I infection;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Myogenesis PE1 15 +NX_Q99102 Mucin-4 2169 231518 5.85 1 Membrane;Secreted;Cell membrane NA May play a role in tumor progression. Ability to promote tumor growth may be mainly due to repression of apoptosis as opposed to proliferation. Has anti-adhesive properties. Seems to alter cellular behavior through both anti-adhesive effects on cell-cell and cell-extracellular matrix interactions and in its ability to act as an intramembrane ligand for ERBB2. Plays an important role in cell proliferation and differentiation of epithelial cells by inducing specific phosphorylation of ERBB2. The MUC4-ERBB2 complex causes site-specific phosphorylation of the ERBB2 'Tyr-1248'. In polarized epithelial cells segregates ERBB2 and other ERBB receptors and prevents ERBB2 from acting as a coreceptor. The interaction with ERBB2 leads to enhanced expression of CDKN1B. The formation of a MUC4-ERBB2-ERBB3-NRG1 complex leads to down-regulation of CDKN1B, resulting in repression of apoptosis and stimulation of proliferation. Mucin-4 beta chain is predominantly N-glycosylated.;Proteolytically cleaved into 2 chains, mucin-4 alpha chain and mucin-4 beta chain.;Mucrnin-4 alpha chain is highly O-glycosylated. NA O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1) PE1 3 +NX_Q99217 Amelogenin, X isoform 191 21603 6.51 0 Extracellular matrix Amelogenesis imperfecta 1E Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel. Phosphorylated by FAM20C in vitro. Belongs to the amelogenin family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 X +NX_Q99218 Amelogenin, Y isoform 206 23250 6.92 0 Extracellular matrix NA Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel. NA Belongs to the amelogenin family. NA PE2 Y +NX_Q99250 Sodium channel protein type 2 subunit alpha 2005 227975 5.56 24 Cell membrane Epileptic encephalopathy, early infantile, 11;Seizures, benign familial infantile, 3 Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:1325650, PubMed:17021166, PubMed:28256214, PubMed:29844171). Implicated in the regulation of hippocampal replay occurring within sharp wave ripples (SPW-R) important for memory (By similarity). Phosphorylation at Ser-1506 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.;May be ubiquitinated by NEDD4L; which would promote its endocytosis.;Sumoylated at Lys-38. Sumoylation is induced by hypoxia, increases voltage-gated sodium current and mediates the early response to acute hypoxia in neurons. Sumoylated SCN2A is located at the cell membrane.;SCN2A is phosphorylated by FYN (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily. Interaction between L1 and Ankyrins;Phase 0 - rapid depolarisation PE1 2 +NX_Q99259 Glutamate decarboxylase 1 594 66897 7.54 0 Cytoplasmic vesicle Cerebral palsy, spastic quadriplegic 1 Catalyzes the production of GABA. NA Belongs to the group II decarboxylase family. Alanine, aspartate and glutamate metabolism;beta-Alanine metabolism;Taurine and hypotaurine metabolism;Butanoate metabolism;Metabolic pathways;GABAergic synapse;Type I diabetes mellitus;GABA synthesis;GABA synthesis, release, reuptake and degradation;MECP2 regulates transcription of genes involved in GABA signaling PE1 2 +NX_Q99417 c-Myc-binding protein 103 11967 5.71 0 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA May control the transcriptional activity of MYC. Stimulates the activation of E box-dependent transcription by MYC. NA Belongs to the AMY1 family. NA PE1 1 +NX_Q99418 Cytohesin-2 400 46546 5.43 0 Golgi apparatus;Cytoplasm;Cell membrane;Adherens junction;Growth cone;Cell projection;Tight junction;Cytosol NA Acts as a guanine-nucleotide exchange factor (GEF). Promotes guanine-nucleotide exchange on ARF1, ARF3 and ARF6. Activates ARF factors through replacement of GDP with GTP (By similarity). The cell membrane form, in association with ARL4 proteins, recruits ARF6 to the plasma membrane (PubMed:17398095). Involved in neurite growth (By similarity). NA NA Intra-Golgi traffic PE1 19 +NX_Q99424 Peroxisomal acyl-coenzyme A oxidase 2 681 76827 7.32 0 Peroxisome;Cytosol;Cytoplasmic vesicle Congenital bile acid synthesis defect 6 Oxidizes the CoA esters of the bile acid intermediates di- and tri-hydroxycholestanoic acids (PubMed:27884763). Capable of oxidizing short as well as long chain 2-methyl branched fatty acids (By similarity). NA Belongs to the acyl-CoA oxidase family. Primary bile acid biosynthesis;Metabolic pathways;PPAR signaling pathway;Peroxisome;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Beta-oxidation of pristanoyl-CoA;Peroxisomal protein import PE1 3 +NX_Q99426 Tubulin-folding cofactor B 244 27326 5.06 0 Cytoplasm;Cytosol;Cytoskeleton;Cell membrane NA Binds to alpha-tubulin folding intermediates after their interaction with cytosolic chaperonin in the pathway leading from newly synthesized tubulin to properly folded heterodimer (PubMed:9265649). Involved in regulation of tubulin heterodimer dissociation. May function as a negative regulator of axonal growth (By similarity). Phosphorylation by PAK1 is required for normal function.;Ubiquitinated in the presence of GAN which targets it for degradation by the proteasome. Belongs to the TBCB family. Post-chaperonin tubulin folding pathway PE1 19 +NX_Q99435 Protein kinase C-binding protein NELL2 816 91346 5.44 0 Cytoplasmic vesicle;Secreted NA Required for neuron survival through the modulation of MAPK pathways (By similarity). Involved in the regulation of hypothalamic GNRH secretion and the control of puberty (By similarity). NA NA Regulation of commissural axon pathfinding by SLIT and ROBO PE1 12 +NX_Q99436 Proteasome subunit beta type-7 277 29965 7.58 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Within the 20S core complex, PSMB7 displays a trypsin-like activity. NA Belongs to the peptidase T1B family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neutrophil degranulation;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 9 +NX_Q99437 V-type proton ATPase 21 kDa proteolipid subunit 205 21406 7.61 5 Vacuole membrane;Cytosol NA Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. NA Belongs to the V-ATPase proteolipid subunit family. Oxidative phosphorylation;Metabolic pathways;Lysosome;Phagosome;Synaptic vesicle cycle;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Tuberculosis;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE1 1 +NX_Q99439 Calponin-2 309 33697 6.94 0 Nucleoplasm;Cytosol;Cytoskeleton NA Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity. NA Belongs to the calponin family. Neutrophil degranulation;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 19 +NX_Q99440 Uncharacterized protein encoded by LINC01587 93 10499 8.85 0 NA NA NA NA NA NA PE2 4 +NX_Q99442 Translocation protein SEC62 399 45862 6.67 2 Endoplasmic reticulum;Endoplasmic reticulum membrane;Cytoskeleton NA Mediates post-translational transport of precursor polypeptides across endoplasmic reticulum (ER). Proposed to act as a targeting receptor for small presecretory proteins containing short and apolar signal peptides. Targets and properly positions newly synthesized presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen. NA Belongs to the SEC62 family. Protein export;Protein processing in endoplasmic reticulum PE1 3 +NX_Q99445 Glycosyl-phosphatidylinositol-anchored molecule-like protein 158 17730 6.1 0 Cell membrane NA May play a role in the apoptotic pathway or cell-cycle regulation induced by p53/TP53 after DNA damage. NA NA NA PE2 8 +NX_Q99447 Ethanolamine-phosphate cytidylyltransferase 389 43835 6.44 0 Centrosome;Cytoskeleton NA Plays an important role in the biosynthesis of the phospholipid phosphatidylethanolamine. Catalyzes the formation of CDP-ethanolamine. NA Belongs to the cytidylyltransferase family. Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 2/3.;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PE PE1 17 +NX_Q99453 Paired mesoderm homeobox protein 2B 314 31621 9.02 0 Nucleoplasm;Nucleus Congenital central hypoventilation syndrome;Neuroblastoma 2 Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element. NA Belongs to the paired homeobox family. NA PE1 4 +NX_Q99456 Keratin, type I cytoskeletal 12 494 53511 4.71 0 NA Corneal dystrophy, Meesmann May play a unique role in maintaining the normal corneal epithelial function. Together with KRT3, essential for the maintenance of corneal epithelium integrity (By similarity). NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_Q99457 Nucleosome assembly protein 1-like 3 506 57593 5.01 0 Cytoplasmic vesicle;Nucleus NA NA NA Belongs to the nucleosome assembly protein (NAP) family. NA PE1 X +NX_Q99459 Cell division cycle 5-like protein 802 92251 8.22 0 Cytoplasm;Nucleoplasm;Nucleus speckle;Nucleus NA DNA-binding protein involved in cell cycle control. May act as a transcription activator. Plays role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes (PubMed:11991638, PubMed:20176811, PubMed:28502770, PubMed:28076346, PubMed:29361316, PubMed:29360106, PubMed:29301961, PubMed:30728453, PubMed:30705154). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR) (PubMed:20176811). Phosphorylated on serine and threonine residues. Phosphorylation on Thr-411 and Thr-438 is required for CDC5L-mediated mRNA splicing. Has no effect on subcellular location nor on homodimerization. Phosphorylated in vitro by CDK2. Phosphorylation enhances interaction with PPP1R8. Belongs to the CEF1 family. Spliceosome;mRNA Splicing - Major Pathway PE1 6 +NX_Q99460 26S proteasome non-ATPase regulatory subunit 1 953 105836 5.25 0 Nucleoplasm;Cytoskeleton NA Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. NA Belongs to the proteasome subunit S1 family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neutrophil degranulation;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 2 +NX_Q99463 Putative neuropeptide Y receptor type 6 290 33180 9.26 6 Membrane NA When expressed, is unable to bind pancreatic polypeptide (PP), neuropeptide Y (NPY), or peptide YY (PYY), suggesting that either it is functionally inactive or that it may have acquired a pancreatic polypeptide-independent function. NA Belongs to the G-protein coupled receptor 1 family. NA PE5 5 +NX_Q99466 Neurogenic locus notch homolog protein 4 2003 209622 5.43 1 Nucleus;Cell membrane NA Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. May regulate branching morphogenesis in the developing vascular system (By similarity). Phosphorylated.;Synthesized in the endoplasmic reticulum as an inactive form which is proteolytically cleaved by a furin-like convertase in the trans-Golgi network before it reaches the plasma membrane to yield an active, ligand-accessible form. Cleavage results in a C-terminal fragment N(TM) and a N-terminal fragment N(EC). Following ligand binding, it is cleaved by TNF-alpha converting enzyme (TACE) to yield a membrane-associated intermediate fragment called notch extracellular truncation (NEXT). This fragment is then cleaved by presenilin dependent gamma-secretase to release a notch-derived peptide containing the intracellular domain (NICD) from the membrane (By similarity). Belongs to the NOTCH family. Dorso-ventral axis formation;Notch signaling pathway;Pre-NOTCH Processing in the Endoplasmic Reticulum;Pre-NOTCH Transcription and Translation;Pre-NOTCH Processing in Golgi;Notch-HLH transcription pathway;Defective LFNG causes SCDO3;Negative regulation of NOTCH4 signaling;NOTCH4 Activation and Transmission of Signal to the Nucleus;NOTCH4 Intracellular Domain Regulates Transcription PE1 6 +NX_Q99467 CD180 antigen 661 74179 5.96 1 Cell membrane NA May cooperate with MD-1 and TLR4 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) in B-cells. Leads to NF-kappa-B activation. Also involved in the life/death decision of B-cells (By similarity). NA Belongs to the Toll-like receptor family. Toll Like Receptor 4 (TLR4) Cascade PE1 5 +NX_Q99469 SH3 and cysteine-rich domain-containing protein 402 44554 8.74 0 Nucleoplasm;Cytosol;Sarcolemma;Cell membrane NA Promotes expression of the ion channel CACNA1H at the cell membrane, and thereby contributes to the regulation of channel activity. Plays a minor and redundant role in promoting the expression of calcium channel CACNA1S at the cell membrane, and thereby contributes to increased channel activity. Slows down the inactivation rate of the calcium channel CACNA1C. NA NA NA PE1 3 +NX_Q99470 Stromal cell-derived factor 2 211 23026 6.83 0 Cytoplasmic vesicle;Secreted NA NA NA NA NA PE1 17 +NX_Q99471 Prefoldin subunit 5 154 17328 5.94 0 Cytoplasm;Cytosol;Nucleus;Cytoskeleton NA Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins. Represses the transcriptional activity of MYC. NA Belongs to the prefoldin subunit alpha family. Prefoldin mediated transfer of substrate to CCT/TriC PE1 12 +NX_Q99487 Platelet-activating factor acetylhydrolase 2, cytoplasmic 392 44036 6.43 0 Membrane;Cytoplasm;Endoplasmic reticulum membrane NA Has a marked selectivity for phospholipids with short acyl chains at the sn-2 position. May share a common physiologic function with the plasma-type enzyme. NA Belongs to the serine esterase family. Ether lipid metabolism;Metabolic pathways;Platelet homeostasis PE1 1 +NX_Q99489 D-aspartate oxidase 341 37535 8.07 0 Peroxisome;Cytosol NA Selectively catalyzes the oxidative deamination of D-aspartate and its N-methylated derivative, N-methyl D-aspartate. NA Belongs to the DAMOX/DASOX family. Alanine, aspartate and glutamate metabolism;Peroxisome;Glyoxylate metabolism and glycine degradation;Peroxisomal protein import PE1 6 +NX_Q99490 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 1192 124674 9.91 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Midbody ring NA GTPase-activating protein (GAP) for ARF1 and ARF5, which also shows strong GTPase activity.;Participates in the prevention of neuronal apoptosis by enhancing PI3 kinase activity. It aids the coupling of metabotropic glutamate receptor 1 (GRM1) to cytoplasmic PI3 kinase by interacting with Homer scaffolding proteins, and also seems to mediate anti-apoptotic effects of NGF by activating nuclear PI3 kinase.;Does not stimulate PI3 kinase but may protect cells from apoptosis by stimulating Akt. It also regulates the adapter protein 1 (AP-1)-dependent trafficking of proteins in the endosomal system. It seems to be oncogenic. It is overexpressed in cancer cells, prevents apoptosis and promotes cancer cell invasion. Is phosphorylated at Tyr-682 and Tyr-774 by FYN, preventing its apoptotic cleavage. Belongs to the centaurin gamma-like family. Endocytosis;Netrin-1 signaling PE1 12 +NX_Q99496 E3 ubiquitin-protein ligase RING2 336 37655 6.38 0 Nucleoplasm;Nucleus;Chromosome NA E3 ubiquitin-protein ligase that mediates monoubiquitination of 'Lys-119' of histone H2A (H2AK119Ub), thereby playing a central role in histone code and gene regulation (PubMed:15386022, PubMed:16359901, PubMed:25519132, PubMed:21772249, PubMed:25355358, PubMed:26151332). H2AK119Ub gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. May be involved in the initiation of both imprinted and random X inactivation (By similarity). Essential component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development (PubMed:16359901, PubMed:26151332). PcG PRC1 complex acts via chromatin remodeling and modification of histones, rendering chromatin heritably changed in its expressibility (PubMed:26151332). E3 ubiquitin-protein ligase activity is enhanced by BMI1/PCGF4 (PubMed:21772249). Acts as the main E3 ubiquitin ligase on histone H2A of the PRC1 complex, while RING1 may rather act as a modulator of RNF2/RING2 activity (Probable). Association with the chromosomal DNA is cell-cycle dependent. In resting B- and T-lymphocytes, interaction with AURKB leads to block its activity, thereby maintaining transcription in resting lymphocytes (By similarity). Polyubiquitinated in the presence of UBE2D3 (in vitro).;Monoubiquitinated, by auto-ubiquitination. NA Protein modification; protein ubiquitination.;SUMOylation of DNA damage response and repair proteins;Oxidative Stress Induced Senescence;SUMOylation of RNA binding proteins;SUMOylation of chromatin organization proteins;Transcriptional Regulation by E2F6;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known;Regulation of PTEN gene transcription;SUMOylation of transcription cofactors;SUMOylation of DNA methylation proteins PE1 1 +NX_Q99497 Protein/nucleic acid deglycase DJ-1 189 19891 6.33 0 Cytoplasm;Mitochondrion;Cell membrane;Nucleoplasm;Cytosol;Membrane raft;Nucleus Parkinson disease 7 Protein and nucleotide deglycase that catalyzes the deglycation of the Maillard adducts formed between amino groups of proteins or nucleotides and reactive carbonyl groups of glyoxals (PubMed:25416785, PubMed:28596309). Thus, functions as a protein deglycase that repairs methylglyoxal- and glyoxal-glycated proteins, and releases repaired proteins and lactate or glycolate, respectively. Deglycates cysteine, arginine and lysine residues in proteins, and thus reactivates these proteins by reversing glycation by glyoxals. Acts on early glycation intermediates (hemithioacetals and aminocarbinols), preventing the formation of advanced glycation endproducts (AGE) that cause irreversible damage (PubMed:25416785, PubMed:28013050, PubMed:26995087). Also functions as a nucleotide deglycase able to repair glycated guanine in the free nucleotide pool (GTP, GDP, GMP, dGTP) and in DNA and RNA. Is thus involved in a major nucleotide repair system named guanine glycation repair (GG repair), dedicated to reversing methylglyoxal and glyoxal damage via nucleotide sanitization and direct nucleic acid repair (PubMed:28596309). Also displays an apparent glyoxalase activity that in fact reflects its deglycase activity (PubMed:22523093). Plays an important role in cell protection against oxidative stress and cell death acting as oxidative stress sensor and redox-sensitive chaperone and protease; functions probably related to its primary function (PubMed:17015834, PubMed:20304780, PubMed:18711745, PubMed:12796482, PubMed:19229105, PubMed:25416785, PubMed:26995087). It is involved in neuroprotective mechanisms like the stabilization of NFE2L2 and PINK1 proteins, male fertility as a positive regulator of androgen signaling pathway as well as cell growth and transformation through, for instance, the modulation of NF-kappa-B signaling pathway (PubMed:12612053, PubMed:15502874, PubMed:14749723, PubMed:17015834, PubMed:21097510, PubMed:18711745). Eliminates hydrogen peroxide and protects cells against hydrogen peroxide-induced cell death (PubMed:16390825). Required for correct mitochondrial morphology and function as well as for autophagy of dysfunctional mitochondria (PubMed:19229105, PubMed:16632486). Plays a role in regulating expression or stability of the mitochondrial uncoupling proteins SLC25A14 and SLC25A27 in dopaminergic neurons of the substantia nigra pars compacta and attenuates the oxidative stress induced by calcium entry into the neurons via L-type channels during pacemaking (PubMed:18711745). Regulates astrocyte inflammatory responses, may modulate lipid rafts-dependent endocytosis in astrocytes and neuronal cells (PubMed:23847046). In pancreatic islets, involved in the maintenance of mitochondrial reactive oxygen species (ROS) levels and glucose homeostasis in an age- and diet dependent manner. Protects pancreatic beta cells from cell death induced by inflammatory and cytotoxic setting (By similarity). Binds to a number of mRNAs containing multiple copies of GG or CC motifs and partially inhibits their translation but dissociates following oxidative stress (PubMed:18626009). Metal-binding protein able to bind copper as well as toxic mercury ions, enhances the cell protection mechanism against induced metal toxicity (PubMed:23792957). In macrophages, interacts with the NADPH oxidase subunit NCF1 to direct NADPH oxidase-dependent ROS production, and protects against sepsis (By similarity). Cys-106 is easily oxidized to sulfinic acid.;Sumoylated on Lys-130 by PIAS2 or PIAS4; which is enhanced after ultraviolet irradiation and essential for cell-growth promoting activity and transforming activity.;Undergoes cleavage of a C-terminal peptide and subsequent activation of protease activity in response to oxidative stress. Belongs to the peptidase C56 family. Parkinson's disease;SUMOylation of transcription cofactors PE1 1 +NX_Q99500 Sphingosine 1-phosphate receptor 3 378 42250 9.78 7 Cell membrane NA Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. When expressed in rat HTC4 hepatoma cells, is capable of mediating S1P-induced cell proliferation and suppression of apoptosis. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Lysosphingolipid and LPA receptors;Extra-nuclear estrogen signaling PE1 9 +NX_Q99501 GAS2-like protein 1 681 72717 10.1 0 Stress fiber;Cell junction;Cell membrane;Cytoskeleton NA Involved in the cross-linking of microtubules and microfilaments (PubMed:12584248, PubMed:24706950). Regulates microtubule dynamics and stability by interacting with microtubule plus-end tracking proteins, such as MAPRE1, to regulate microtubule growth along actin stress fibers (PubMed:24706950). NA Belongs to the GAS2 family. NA PE1 22 +NX_Q99502 Eyes absent homolog 1 592 64593 5.79 0 Cytoplasm;Nucleoplasm;Nucleus Branchiootorenal syndrome 1;Otofaciocervical syndrome 1;Anterior segment anomalies with or without cataract;Branchiootic syndrome 1 Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19234442). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis (By similarity). Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (By similarity). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (By similarity). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (By similarity). Sumoylated with SUMO1. Belongs to the HAD-like hydrolase superfamily. EYA family. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks PE1 8 +NX_Q99504 Eyes absent homolog 3 573 62663 5.06 0 Cytoplasm;Nucleoplasm;Nucleus NA Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1 (PubMed:19234442, PubMed:19351884). Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Coactivates SIX1, and seems to coactivate SIX2, SIX4 and SIX5. The repression of precursor cell proliferation in myoblasts by SIX1 is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex and seems to be dependent on EYA3 phosphatase activity (By similarity). May be involved in development of the eye. Ser-266 phosphorylation is required for localization at sites of DNA damage and directing interaction with H2AX. Belongs to the HAD-like hydrolase superfamily. EYA family. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks PE1 1 +NX_Q99518 Dimethylaniline monooxygenase [N-oxide-forming] 2 535 60907 8.56 1 Microsome membrane;Endoplasmic reticulum membrane NA Catalyzes the N-oxidation of certain primary alkylamines to their oximes via an N-hydroxylamine intermediate. Inactive toward certain tertiary amines, such as imipramine or chloropromazine. Can catalyze the S-oxidation of methimazole. NA Belongs to the FMO family. Drug metabolism - cytochrome P450;FMO oxidises nucleophiles PE1 1 +NX_Q99519 Sialidase-1 415 45467 5.59 0 Cell membrane;Lysosome membrane;Cell junction;Lysosome;Cytoplasmic vesicle;Lysosome lumen Sialidosis Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage. Phosphorylation of tyrosine within the internalization signal results in inhibition of sialidase internalization and blockage on the plasma membrane.;N-glycosylated. Belongs to the glycosyl hydrolase 33 family. Other glycan degradation;Sphingolipid metabolism;Lysosome;Sialic acid metabolism;Glycosphingolipid metabolism;Defective NEU1 causes sialidosis;Neutrophil degranulation PE1 6 +NX_Q99523 Sortilin 831 92068 5.46 1 Golgi apparatus;Endoplasmic reticulum membrane;Endosome membrane;Cell membrane;Lysosome membrane;Nucleus membrane;Membrane;Golgi stack membrane;Cytosol NA Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell surface. Required for protein transport from the Golgi apparatus to the lysosomes by a pathway that is independent of the mannose-6-phosphate receptor (M6PR). Also required for protein transport from the Golgi apparatus to the endosomes. Promotes neuronal apoptosis by mediating endocytosis of the proapoptotic precursor forms of BDNF (proBDNF) and NGFB (proNGFB). Also acts as a receptor for neurotensin. May promote mineralization of the extracellular matrix during osteogenic differentiation by scavenging extracellular LPL. Probably required in adipocytes for the formation of specialized storage vesicles containing the glucose transporter SLC2A4/GLUT4 (GLUT4 storage vesicles, or GSVs). These vesicles provide a stable pool of SLC2A4 and confer increased responsiveness to insulin. May also mediate transport from the endoplasmic reticulum to the Golgi. The N-terminal propeptide is cleaved by furin and possibly other homologous proteases.;Phosphorylation at Ser-825 facilitates the interaction with GGA1. Belongs to the VPS10-related sortilin family. SORT1 subfamily. Lysosome;Neurotrophin signaling pathway;Golgi Associated Vesicle Biogenesis PE1 1 +NX_Q99525 Histone H4-like protein type G 98 11009 11.06 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling (By similarity). NA Belongs to the histone H4 family. Systemic lupus erythematosus PE1 6 +NX_Q99527 G-protein coupled estrogen receptor 1 375 42248 8.63 7 trans-Golgi network;Cytoplasm;Endoplasmic reticulum membrane;Cell membrane;Recycling endosome;Early endosome;Dendritic spine membrane;Basolateral cell membrane;Cytoplasmic vesicle membrane;Postsynaptic density;Golgi apparatus membrane;Mitochondrion membrane;Dendrite;Axon;Perinuclear region;Nucleus;Cytoskeleton NA G-protein coupled estrogen receptor that binds to 17-beta-estradiol (E2) with high affinity, leading to rapid and transient activation of numerous intracellular signaling pathways. Stimulates cAMP production, calcium mobilization and tyrosine kinase Src inducing the release of heparin-bound epidermal growth factor (HB-EGF) and subsequent transactivation of the epidermal growth factor receptor (EGFR), activating downstream signaling pathways such as PI3K/Akt and ERK/MAPK. Mediates pleiotropic functions among others in the cardiovascular, endocrine, reproductive, immune and central nervous systems. Has a role in cardioprotection by reducing cardiac hypertrophy and perivascular fibrosis in a RAMP3-dependent manner. Regulates arterial blood pressure by stimulating vasodilation and reducing vascular smooth muscle and microvascular endothelial cell proliferation. Plays a role in blood glucose homeostasis contributing to the insulin secretion response by pancreatic beta cells. Triggers mitochondrial apoptosis during pachytene spermatocyte differentiation. Stimulates uterine epithelial cell proliferation. Enhances uterine contractility in response to oxytocin. Contributes to thymic atrophy by inducing apoptosis. Attenuates TNF-mediated endothelial expression of leukocyte adhesion molecules. Promotes neuritogenesis in developing hippocampal neurons. Plays a role in acute neuroprotection against NMDA-induced excitotoxic neuronal death. Increases firing activity and intracellular calcium oscillations in luteinizing hormone-releasing hormone (LHRH) neurons. Inhibits early osteoblast proliferation at growth plate during skeletal development. Inhibits mature adipocyte differentiation and lipid accumulation. Involved in the recruitment of beta-arrestin 2 ARRB2 at the plasma membrane in epithelial cells. Functions also as a receptor for aldosterone mediating rapid regulation of vascular contractibility through the PI3K/ERK signaling pathway. Involved in cancer progression regulation. Stimulates cancer-associated fibroblast (CAF) proliferation by a rapid genomic response through the EGFR/ERK transduction pathway. Associated with EGFR, may act as a transcription factor activating growth regulatory genes (c-fos, cyclin D1). Promotes integrin alpha-5/beta-1 and fibronectin (FN) matrix assembly in breast cancer cells. Glycosylated.;Ubiquitinated; ubiquitination occurs at the plasma membrane and leads to proteasome-mediated degradation. Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;Peptide ligand-binding receptors PE1 7 +NX_Q99536 Synaptic vesicle membrane protein VAT-1 homolog 393 41920 5.88 0 Mitochondrion outer membrane;Cytoplasm NA Possesses ATPase activity (By similarity). Plays a part in calcium-regulated keratinocyte activation in epidermal repair mechanisms. Has no effect on cell proliferation. Negatively regulates mitochondrial fusion in cooperation with mitofusin proteins (MFN1-2). NA Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily. Neutrophil degranulation PE1 17 +NX_Q99538 Legumain 433 49411 6.07 0 Cytoplasmic vesicle;Nucleoplasm;Lysosome NA Has a strict specificity for hydrolysis of asparaginyl bonds. Can also cleave aspartyl bonds slowly, especially under acidic conditions. Required for normal lysosomal protein degradation in renal proximal tubules. Required for normal degradation of internalized EGFR. Plays a role in the regulation of cell proliferation via its role in EGFR degradation (By similarity). May be involved in the processing of proteins for MHC class II antigen presentation in the lysosomal/endosomal system. Activated by autocatalytic processing at pH 4.;Glycosylated. Belongs to the peptidase C13 family. Lysosome;Antigen processing and presentation;MHC class II antigen presentation;Trafficking and processing of endosomal TLR;Vitamin D (calciferol) metabolism PE1 14 +NX_Q99541 Perilipin-2 437 48075 6.34 0 Membrane;Lipid droplet NA May be involved in development and maintenance of adipose tissue. Acylated; primarily with C14, C16 and C18 fatty acids. Belongs to the perilipin family. PPARA activates gene expression;Chaperone Mediated Autophagy;Lipophagy;Microautophagy PE1 9 +NX_Q99542 Matrix metalloproteinase-19 508 57357 7.22 0 Endoplasmic reticulum;Cytoplasmic vesicle;Extracellular matrix Cavitary optic disc anomalies Endopeptidase that degrades various components of the extracellular matrix, such as aggrecan and cartilage oligomeric matrix protein (comp), during development, haemostasis and pathological conditions (arthritic disease). May also play a role in neovascularization or angiogenesis. Hydrolyzes collagen type IV, laminin, nidogen, nascin-C isoform, fibronectin, and type I gelatin. Tyrosine phosphorylated by PKDCC/VLK.;Activated by autolytic cleavage after Lys-97. Belongs to the peptidase M10A family. Degradation of the extracellular matrix;Collagen degradation PE1 12 +NX_Q99543 DnaJ homolog subfamily C member 2 621 71996 8.85 0 Cytosol;Nucleus NA Acts both as a chaperone in the cytosol and as a chromatin regulator in the nucleus. When cytosolic, acts as a molecular chaperone: component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding-competent state. In the RAC complex, stimulates the ATPase activity of the ribosome-associated pool of Hsp70-type chaperones HSPA14 that bind to the nascent polypeptide chain. When nuclear, mediates the switching from polycomb-repressed genes to an active state: specifically recruited at histone H2A ubiquitinated at 'Lys-119' (H2AK119ub), and promotes the displacement of the polycomb PRC1 complex from chromatin, thereby facilitating transcription activation. Specifically binds DNA sequence 5'-GTCAAGC-3'. Phosphorylated in M (mitotic) phase. NA Regulation of HSF1-mediated heat shock response PE1 7 +NX_Q99547 M-phase phosphoprotein 6 160 19024 5.15 0 Nucleoplasm;Cytoplasm;Nucleolus NA RNA-binding protein that associates with the RNA exosome complex. Involved in the 3'-processing of the 7S pre-RNA to the mature 5.8S rRNA and play a role in recruiting the RNA exosome complex to pre-rRNA; this function may include C1D. Phosphorylated in M (mitotic) phase. Belongs to the MPP6 family. RNA degradation;Major pathway of rRNA processing in the nucleolus and cytosol PE1 16 +NX_Q99549 M-phase phosphoprotein 8 860 97182 5.81 0 Cell membrane;Chromosome;Nucleoplasm;Cytosol;Nucleus NA Heterochromatin component that specifically recognizes and binds methylated 'Lys-9' of histone H3 (H3K9me) and promotes recruitment of proteins that mediate epigenetic repression (PubMed:20871592, PubMed:26022416). Mediates recruitment of the HUSH complex to H3K9me3 sites: the HUSH complex is recruited to genomic loci rich in H3K9me3 and is required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3, as well as MORC2 (PubMed:26022416, PubMed:28581500). Binds H3K9me and promotes DNA methylation by recruiting DNMT3A to target CpG sites; these can be situated within the coding region of the gene (PubMed:20871592). Mediates down-regulation of CDH1 expression (PubMed:20871592). Also represses L1 retrotransposons in collaboration with MORC2 and, probably, SETDB1, the silencing is dependent of repressive epigenetic modifications, such as H3K9me3 mark. Silencing events often occur within introns of transcriptionally active genes, and lead to the down-regulation of host gene expression (PubMed:29211708). The HUSH complex is also involved in the silencing of unintegrated retroviral DNA by being recruited by ZNF638: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed (PubMed:30487602). Phosphorylated in M (mitotic) phase. Phosphorylation by CDK1 promotes dissociation from chromatin. NA NA PE1 13 +NX_Q99550 M-phase phosphoprotein 9 1183 133024 5.87 0 Cell membrane;Centriole;Nucleoplasm;Golgi apparatus membrane;Cytosol NA NA Phosphorylated in M (mitotic) phase. NA NA PE1 12 +NX_Q99551 Transcription termination factor 1, mitochondrial 399 45778 9.49 0 Mitochondrion NA Transcription termination factor. Binds to a 28 bp region within the tRNA(Leu(uur)) gene at a position immediately adjacent to and downstream of the 16S rRNA gene; this region comprises a tridecamer sequence critical for directing accurate termination. Binds DNA along the major grove and promotes DNA bending and partial unwinding. Promotes base flipping. Transcription termination activity appears to be polarized with highest specificity for transcripts initiated on the light strand. Phosphoprotein with mostly four phosphate groups. While the DNA-binding activity is unaffected by the phosphorylation state, only the phosphorylated form of the protein is active for termination activity. Functioning seems to be regulated by phosphorylation. Belongs to the mTERF family. Mitochondrial transcription termination;Transcriptional activation of mitochondrial biogenesis PE1 7 +NX_Q99558 Mitogen-activated protein kinase kinase kinase 14 947 104042 7.77 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA Lymphotoxin beta-activated kinase which seems to be exclusively involved in the activation of NF-kappa-B and its transcriptional activity. Promotes proteolytic processing of NFKB2/P100, which leads to activation of NF-kappa-B via the non-canonical pathway. Could act in a receptor-selective manner. Ubiquitinated. Undergoes both 'Lys-48'- and 'Lys-63'-linked polyubiquitination. 'Lys-48'-linked polyubiquitination leads to its degradation by the proteasome, while 'Lys-63'-linked polyubiquitination stabilizes and activates it.;Autophosphorylated. Phosphorylation at Thr-559 is required to activates its kinase activity and 'Lys-63'-linked polyubiquitination. Phosphorylated by CHUK/IKKA leading to MAP3K14 destabilization.;MAP3K14 is phosphorylated by MAP3K7 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. MAPK signaling pathway;Apoptosis;Osteoclast differentiation;T cell receptor signaling pathway;Intestinal immune network for IgA production;Epithelial cell signaling in Helicobacter pylori infection;HTLV-I infection;Dectin-1 mediated noncanonical NF-kB signaling;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;CD28 dependent PI3K/Akt signaling;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway PE1 17 +NX_Q99567 Nuclear pore complex protein Nup88 741 83542 5.47 0 Nucleoplasm;Nuclear pore complex Fetal akinesia deformation sequence 4 Component of nuclear pore complex. NA NA RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 17 +NX_Q99569 Plakophilin-4 1192 131868 9.07 0 Desmosome;Cell membrane;Cell junction;Spindle;Midbody NA Plays a role as a regulator of Rho activity during cytokinesis. May play a role in junctional plaques. PKP4 is phosphorylated by MAPK8 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the beta-catenin family. Formation of the cornified envelope;Keratinization PE1 2 +NX_Q99570 Phosphoinositide 3-kinase regulatory subunit 4 1358 153103 6.74 0 Membrane;Autophagosome;Late endosome;Cytoplasmic vesicle;Cytoskeleton NA Regulatory subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123). Probably autophosphorylated.;Myristoylated. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Regulation of autophagy;Macroautophagy;Synthesis of PIPs at the Golgi membrane;Synthesis of PIPs at the early endosome membrane;PI3K Cascade;Synthesis of PIPs at the late endosome membrane;Toll Like Receptor 9 (TLR9) Cascade;RHO GTPases Activate NADPH Oxidases PE1 3 +NX_Q99571 P2X purinoceptor 4 388 43369 8.29 2 Membrane NA Receptor for ATP that acts as a ligand-gated ion channel. This receptor is insensitive to the antagonists PPADS and suramin. NA Belongs to the P2X receptor family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Elevation of cytosolic Ca2+ levels;Platelet homeostasis PE1 12 +NX_Q99572 P2X purinoceptor 7 595 68585 8.57 2 Cell membrane NA Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Could function in both fast synaptic transmission and the ATP-mediated lysis of antigen-presenting cells. In the absence of its natural ligand, ATP, functions as a scavenger receptor in the recognition and engulfment of apoptotic cells (PubMed:21821797, PubMed:23303206). ADP-ribosylation at Arg-125 is necessary and sufficient to activate P2RX7 and gate the channel.;Phosphorylation results in its inactivation.;Palmitoylation of several cysteines in the C-terminal cytoplasmic tail is required for efficient localization to cell surface. Belongs to the P2X receptor family. The NLRP3 inflammasome;Elevation of cytosolic Ca2+ levels;Platelet homeostasis PE1 12 +NX_Q99574 Neuroserpin 410 46427 4.84 0 Secretory vesicle lumen;Cytosol;Perikaryon;Secreted Encephalopathy, familial, with neuroserpin inclusion bodies Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin (PubMed:9442076, PubMed:26329378, PubMed:19265707, PubMed:19285087, PubMed:11880376). May be involved in the formation or reorganization of synaptic connections as well as for synaptic plasticity in the adult nervous system. May protect neurons from cell damage by tissue-type plasminogen activator (Probable). NA Belongs to the serpin family. NA PE1 3 +NX_Q99575 Ribonucleases P/MRP protein subunit POP1 1024 114709 9.36 0 Nucleolus Anauxetic dysplasia 2 Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:8918471, PubMed:30454648). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465). NA NA Ribosome biogenesis in eukaryotes;RNA transport;tRNA processing in the nucleus PE1 8 +NX_Q99576 TSC22 domain family protein 3 134 14810 4.51 0 Golgi apparatus;Cytoplasm;Nucleus speckle;Cytosol;Nucleus NA Inhibits myogenic differentiation and mediates anti-myogenic effects of glucocorticoids by binding and regulating MYOD1 and HDAC1 transcriptional activity resulting in reduced expression of MYOG (By similarity).;Protects T-cells from IL2 deprivation-induced apoptosis through the inhibition of FOXO3A transcriptional activity that leads to the down-regulation of the pro-apoptotic factor BCL2L11. In macrophages, plays a role in the anti-inflammatory and immunosuppressive effects of glucocorticoids and IL10. In T-cells, inhibits anti-CD3-induced NFKB1 nuclear translocation. In vitro, suppresses AP1 and NFKB1 DNA-binding activities (By similarity). NA Belongs to the TSC-22/Dip/Bun family. Stimuli-sensing channels PE1 X +NX_Q99578 GTP-binding protein Rit2 217 24668 6.14 0 Nucleus;Cell membrane NA Binds and exchanges GTP and GDP. Binds and modulates the activation of POU4F1 as gene expression regulator. NA Belongs to the small GTPase superfamily. Ras family. Signalling to p38 via RIT and RIN PE1 18 +NX_Q99581 Protein FEV 238 25030 9.28 0 Nucleus speckle;Nucleus Sudden infant death syndrome Functions as a transcriptional regulator. According to PubMed:12761502, it functions as a transcriptional repressor. Functions in the differentiation and the maintenance of the central serotonergic neurons. May play a role in cell growth. NA Belongs to the ETS family. NA PE1 2 +NX_Q99583 Max-binding protein MNT 582 62300 8.79 0 Nucleoplasm;Nucleus NA Binds DNA as a heterodimer with MAX and represses transcription. Binds to the canonical E box sequence 5'-CACGTG-3' and, with higher affinity, to 5'-CACGCG-3'. NA NA NA PE1 17 +NX_Q99584 Protein S100-A13 98 11471 5.9 0 Cytoplasm;Cell membrane;Secreted;Nucleolus;Nucleoplasm;Cytosol NA Plays a role in the export of proteins that lack a signal peptide and are secreted by an alternative pathway. Binds two calcium ions per subunit. Binds one copper ion. Binding of one copper ion does not interfere with calcium binding. Required for the copper-dependent stress-induced export of IL1A and FGF1. The calcium-free protein binds to lipid vesicles containing phosphatidylserine, but not to vesicles containing phosphatidylcholine (By similarity). NA Belongs to the S-100 family. NA PE1 1 +NX_Q99590 Protein SCAF11 1463 164652 8.69 0 Nucleoplasm;Nucleus NA Plays a role in pre-mRNA alternative splicing by regulating spliceosome assembly. NA NA NA PE1 12 +NX_Q99592 Zinc finger and BTB domain-containing protein 18 522 58354 5.41 0 Nucleus speckle;Nucleus Mental retardation, autosomal dominant 22 Transcriptional repressor that plays a role in various developmental processes such as myogenesis and brain development. Plays a key role in myogenesis by directly repressing the expression of ID2 and ID3, 2 inhibitors of skeletal myogenesis. Also involved in controlling cell division of progenitor cells and regulating the survival of postmitotic cortical neurons. Specifically binds the consensus DNA sequence 5'-[AC]ACATCTG[GT][AC]-3' which contains the E box core, and acts by recruiting chromatin remodeling multiprotein complexes. May also play a role in the organization of chromosomes in the nucleus. NA Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily. NA PE1 1 +NX_Q99593 T-box transcription factor TBX5 518 57711 7.14 0 Cytoplasm;Nucleoplasm;Nucleus Holt-Oram syndrome DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation (PubMed:25725155, PubMed:25963046, PubMed:29174768, PubMed:26917986, PubMed:27035640, PubMed:8988164). Binds to the core DNA motif of NPPA promoter (PubMed:26926761). Acetylation at Lys-339 by KAT2A and KAT2B promotes nuclear retention. NA YAP1- and WWTR1 (TAZ)-stimulated gene expression;Physiological factors PE1 12 +NX_Q99594 Transcriptional enhancer factor TEF-5 435 48676 8.49 0 Nucleus NA Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell proliferation, migration and epithelial mesenchymal transition (EMT) induction. Binds to multiple functional elements of the human chorionic somatomammotropin-B gene enhancer. NA NA YAP1- and WWTR1 (TAZ)-stimulated gene expression;RUNX3 regulates YAP1-mediated transcription PE1 6 +NX_Q99595 Mitochondrial import inner membrane translocase subunit Tim17-A 171 18024 7.72 3 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion NA Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. NA Belongs to the Tim17/Tim22/Tim23 family. Mitochondrial protein import PE1 1 +NX_Q99598 Translin-associated protein X 290 33112 6.1 0 Golgi apparatus;Nucleoplasm;Cytosol;Perinuclear region;Nucleus NA Acts in combination with TSN as an endonuclease involved in the activation of the RNA-induced silencing complex (RISC). Possible role in spermatogenesis. Sumoylated with SUMO1. Belongs to the translin family. Small interfering RNA (siRNA) biogenesis PE1 1 +NX_Q99603 T cell receptor gamma variable 9 122 13414 5.87 0 Cell membrane NA V region of the variable domain of T cell receptor (TR) gamma chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714). NA NA NA PE1 7 +NX_Q99607 ETS-related transcription factor Elf-4 663 70730 5.41 0 Nucleoplasm;Nucleus;PML body NA Transcriptional activator that binds to DNA sequences containing the consensus 5'-WGGA-3'. Transactivates promoters of the hematopoietic growth factor genes CSF2, IL3, IL8, and of the bovine lysozyme gene. Acts synergistically with RUNX1 to transactivate the IL3 promoter (By similarity). Also transactivates the PRF1 promoter in natural killer (NK) cells. Plays a role in the development and function of NK and NK T-cells and in innate immunity. Controls the proliferation and homing of CD8+ T-cells via the Kruppel-like factors KLF4 and KLF2 (By similarity). Controls cell senescence in a p53-dependent manner. Can also promote cellular transformation through inhibition of the p16 pathway. NA Belongs to the ETS family. NA PE1 X +NX_Q99608 Necdin 321 36086 8.81 0 Nucleoplasm;Cytosol;Perikaryon;Nucleus NA Growth suppressor that facilitates the entry of the cell into cell cycle arrest. Functionally similar to the retinoblastoma protein it binds to and represses the activity of cell-cycle-promoting proteins such as SV40 large T antigen, adenovirus E1A, and the transcription factor E2F. Necdin also interacts with p53 and works in an additive manner to inhibit cell growth. Functions also as transcription factor and binds directly to specific guanosine-rich DNA sequences (By similarity). NA NA Interleukin-4 and Interleukin-13 signaling PE1 15 +NX_Q99611 Selenide, water dikinase 2 448 47305 5.63 0 Nucleoplasm NA Synthesizes selenophosphate from selenide and ATP. NA Belongs to the selenophosphate synthase 1 family. Class I subfamily. Selenocompound metabolism;Metabolic pathways;Selenocysteine synthesis PE1 16 +NX_Q99612 Krueppel-like factor 6 283 31865 6.46 0 Nucleolus;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus Prostate cancer;Gastric cancer Transcriptional activator (By similarity). Binds a GC box motif. Could play a role in B-cell growth and development. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 10 +NX_Q99613 Eukaryotic translation initiation factor 3 subunit C 913 105344 5.48 0 Cytoplasm NA Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). Phosphorylated. Phosphorylation is enhanced upon serum stimulation. Belongs to the eIF-3 subunit C family. RNA transport;L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit PE1 16 +NX_Q99614 Tetratricopeptide repeat protein 1 292 33526 4.78 0 Cytoplasm;Cytosol NA NA NA NA NA PE1 5 +NX_Q99615 DnaJ homolog subfamily C member 7 494 56441 6.56 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA Acts as co-chaperone regulating the molecular chaperones HSP70 and HSP90 in folding of steroid receptors, such as the glucocorticoid receptor and the progesterone receptor. Proposed to act as a recycling chaperone by facilitating the return of chaperone substrates to early stages of chaperoning if further folding is required. In vitro, induces ATP-independent dissociation of HSP90 but not of HSP70 from the chaperone-substrate complexes. Recruits NR1I3 to the cytoplasm (By similarity). NA NA Regulation of HSF1-mediated heat shock response PE1 17 +NX_Q99616 C-C motif chemokine 13 98 10986 9.94 0 Secreted NA Chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. Signals through CCR2B and CCR3 receptors. Plays a role in the accumulation of leukocytes at both sides of allergic and non-allergic inflammation. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis. May play a role in the monocyte attraction in tissues chronically exposed to exogenous pathogens. One major form (form long), and two minor forms (short chain and medium chain) are produced by differential signal peptide cleavage. The medium chain is about 30-fold less active than the long chain. Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 17 +NX_Q99618 Cell division cycle-associated protein 3 268 28998 6.02 0 Cytosol NA F-box-like protein which is required for entry into mitosis. Acts by participating in E3 ligase complexes that mediate the ubiquitination and degradation of WEE1 kinase at G2/M phase (By similarity). Ubiquitinated and degraded by the APC/C-Cdh1 complex. NA Protein modification; protein ubiquitination. PE1 12 +NX_Q99619 SPRY domain-containing SOCS box protein 2 263 28630 8.32 0 Cytoplasm;Cytosol NA Substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15601820, PubMed:21199876). Negatively regulates nitric oxide (NO) production and limits cellular toxicity in activated macrophages by mediating the ubiquitination and proteasomal degradation of NOS2 (PubMed:21199876). Acts as a bridge which links NOS2 with the ECS E3 ubiquitin ligase complex components ELOC and CUL5 (PubMed:21199876). NA Belongs to the SPSB family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 12 +NX_Q99622 Protein C10 126 13178 5.04 0 Cytoplasm;Nucleus speckle Temtamy syndrome In brain, may be required for corpus callosum development. NA Belongs to the UPF0456 family. NA PE1 12 +NX_Q99623 Prohibitin-2 299 33296 9.83 0 Cytoplasm;Mitochondrion inner membrane;Mitochondrion;Nucleus NA Acts as a mediator of transcriptional repression by nuclear hormone receptors via recruitment of histone deacetylases (By similarity). Functions as an estrogen receptor (ER)-selective coregulator that potentiates the inhibitory activities of antiestrogens and represses the activity of estrogens. Competes with NCOA1 for modulation of ER transcriptional activity. In mitochondria, regulates cytochrome-c oxidase assembly (COX) and mitochondrial respiration. Binding to sphingoid 1-phosphate (SPP) modulates its regulator activity (PubMed:20959514). PHB2 is phosphorylated by AKT2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the prohibitin family. Processing of SMDT1 PE1 12 +NX_Q99624 Sodium-coupled neutral amino acid transporter 3 504 55773 8.03 10 Cytosol;Cytoskeleton;Cell membrane NA Sodium-dependent amino acid/proton antiporter. Mediates electrogenic cotransport of glutamine and sodium ions in exchange for protons. Also recognizes histidine, asparagine and alanine. May mediate amino acid transport in either direction under physiological conditions. May play a role in nitrogen metabolism and synaptic transmission. NA Belongs to the amino acid/polyamine transporter 2 family. Glutamatergic synapse;GABAergic synapse;Proximal tubule bicarbonate reclamation;Amino acid transport across the plasma membrane PE1 3 +NX_Q99626 Homeobox protein CDX-2 313 33520 9.65 0 Nucleoplasm;Nucleus NA Involved in the transcriptional regulation of multiple genes expressed in the intestinal epithelium. Important in broad range of functions from early differentiation to maintenance of the intestinal epithelial lining of both the small and large intestine. Binds preferentially to methylated DNA (PubMed:28473536). Phosphorylation of Ser-60 mediates the transactivation capacity. Belongs to the Caudal homeobox family. Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) PE1 13 +NX_Q99627 COP9 signalosome complex subunit 8 209 23226 5.25 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. NA Belongs to the CSN8 family. Formation of TC-NER Pre-Incision Complex;DNA Damage Recognition in GG-NER;Cargo recognition for clathrin-mediated endocytosis;Neddylation PE1 2 +NX_Q99633 Pre-mRNA-splicing factor 18 342 39860 8.19 0 Cytosol;Nucleus speckle NA Participates in the second step of pre-mRNA splicing. NA Belongs to the PRP18 family. Spliceosome PE1 10 +NX_Q99638 Cell cycle checkpoint control protein RAD9A 391 42547 5.41 0 Nucleoplasm;Nucleus NA Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavage activity on substrates with double, nick, or gap flaps of distinct sequences and lengths; and DNA ligase I (LIG1) on long-patch base excision repair substrates. The 9-1-1 complex is necessary for the recruitment of RHNO1 to sites of double-stranded breaks (DSB) occurring during the S phase. RAD9A possesses 3'->5' double stranded DNA exonuclease activity. Its phosphorylation by PRKCD may be required for the formation of the 9-1-1 complex. Constitutively phosphorylated on serine and threonine amino acids in absence of DNA damage. Hyperphosphorylated by PRKCD and ABL1 upon DNA damage. Its phosphorylation by PRKCD may be required for the formation of the 9-1-1 complex.;RAD9A is phosphorylated by PRKCD (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the rad9 family. Activation of ATR in response to replication stress;G2/M DNA damage checkpoint;HDR through Single Strand Annealing (SSA);Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Regulation of TP53 Activity through Phosphorylation PE1 11 +NX_Q99640 Membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase 499 54521 6.48 0 Golgi apparatus;Endoplasmic reticulum membrane;Nucleolus;Nucleoplasm;Golgi apparatus membrane NA Acts as a negative regulator of entry into mitosis (G2 to M transition) by phosphorylation of the CDK1 kinase specifically when CDK1 is complexed to cyclins. Mediates phosphorylation of CDK1 predominantly on 'Thr-14'. Also involved in Golgi fragmentation. May be involved in phosphorylation of CDK1 on 'Tyr-15' to a lesser degree, however tyrosine kinase activity is unclear and may be indirect. May be a downstream target of Notch signaling pathway during eye development. Autophosphorylated. Phosphorylated by CDC2-CCNB1 complexes on undefined serine and threonine residues. The phosphorylation by CDC2-CCNB1 complexes may inhibit the catalytic activity.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);PKMYT1 is phosphorylated by MAPK10 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WEE1 subfamily. Cell cycle;Oocyte meiosis;Progesterone-mediated oocyte maturation;Polo-like kinase mediated events;Cyclin A/B1/B2 associated events during G2/M transition;G2/M DNA replication checkpoint PE1 16 +NX_Q99643 Succinate dehydrogenase cytochrome b560 subunit, mitochondrial 169 18610 9.74 3 Mitochondrion inner membrane Paragangliomas 3;Paraganglioma and gastric stromal sarcoma Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). NA Belongs to the cytochrome b560 family. Carbohydrate metabolism; tricarboxylic acid cycle.;Citrate cycle (TCA cycle);Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Citric acid cycle (TCA cycle) PE1 1 +NX_Q99645 Epiphycan 322 36637 4.67 0 Extracellular matrix NA May have a role in bone formation and also in establishing the ordered structure of cartilage through matrix organization. The O-linked polysaccharides on Thr-60 and Ser-96 are probably the mucin type linked to GalNAc. There is one glycosaminoglycan chain, known to be dermatan sulfate, and it is probably the O-glycosylation at Ser-64 (By similarity). Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily. NA PE1 12 +NX_Q99650 Oncostatin-M-specific receptor subunit beta 979 110509 5.54 1 Membrane;Nucleolus Amyloidosis, primary localized cutaneous, 1 Associates with IL31RA to form the IL31 receptor. Binds IL31 to activate STAT3 and possibly STAT1 and STAT5. Capable of transducing OSM-specific signaling events. NA Belongs to the type I cytokine receptor family. Type 2 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;IL-6-type cytokine receptor ligand interactions PE1 5 +NX_Q99653 Calcineurin B homologous protein 1 195 22456 4.98 0 Cytoplasm;Endoplasmic reticulum-Golgi intermediate compartment;Cell membrane;Endomembrane system;Membrane;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleus;Cytoskeleton NA Calcium-binding protein involved in different processes such as regulation of vesicular trafficking, plasma membrane Na(+)/H(+) exchanger and gene transcription. Involved in the constitutive exocytic membrane traffic. Mediates the association between microtubules and membrane-bound organelles of the endoplasmic reticulum and Golgi apparatus and is also required for the targeting and fusion of transcytotic vesicles (TCV) with the plasma membrane. Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Affects the pH sensitivity of SLC9A1/NHE1 by increasing its sensitivity at acidic pH. Required for the stabilization and localization of SLC9A1/NHE1 at the plasma membrane. Inhibits serum- and GTPase-stimulated Na(+)/H(+) exchange. Plays a role as an inhibitor of ribosomal RNA transcription by repressing the nucleolar UBF1 transcriptional activity. May sequester UBF1 in the nucleoplasm and limit its translocation to the nucleolus. Associates to the ribosomal gene promoter. Acts as a negative regulator of the calcineurin/NFAT signaling pathway. Inhibits NFAT nuclear translocation and transcriptional activity by suppressing the calcium-dependent calcineurin phosphatase activity. Also negatively regulates the kinase activity of the apoptosis-induced kinase STK17B. Inhibits both STK17B auto- and substrate-phosphorylations in a calcium-dependent manner. Phosphorylated; decreased phosphorylation is associated with an increase in SLC9A1/NHE1 Na(+)/H(+) exchange activity. Phosphorylation occurs in serum-dependent manner. The phosphorylation state may regulate the binding to SLC9A1/NHE1.;Both N-myristoylation and calcium-mediated conformational changes are essential for its function in exocytic traffic (By similarity). N-myristoylation is required for its association with microtubules and interaction with GAPDH, but not for the constitutive association to membranes. Belongs to the calcineurin regulatory subunit family. CHP subfamily. MAPK signaling pathway;Calcium signaling pathway;Oocyte meiosis;Apoptosis;Wnt signaling pathway;Axon guidance;VEGF signaling pathway;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Long-term potentiation;Glutamatergic synapse;Alzheimer's disease;Amyotrophic lateral sclerosis (ALS);Tuberculosis;Hyaluronan uptake and degradation PE1 15 +NX_Q99661 Kinesin-like protein KIF2C 725 81313 8.03 0 Nucleoplasm;Midbody;Centromere;Centrosome;Nucleus;Kinetochore;Cytoskeleton NA In complex with KIF18B, constitutes the major microtubule plus-end depolymerizing activity in mitotic cells (PubMed:21820309). Regulates the turnover of microtubules at the kinetochore and functions in chromosome segregation during mitosis (PubMed:19060894). Plays a role in chromosome congression and is required for the lateral to end-on conversion of the chromosome-microtubule attachment (PubMed:23891108). Phosphorylation by AURKB, regulates association with centromeres and kinetochores and the microtubule depolymerization activity.;Ubiquitinated. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. MCAK/KIF2 subfamily. Separation of Sister Chromatids;MHC class II antigen presentation;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;COPI-dependent Golgi-to-ER retrograde traffic PE1 1 +NX_Q99665 Interleukin-12 receptor subunit beta-2 862 97135 7.91 1 Membrane;Cell membrane NA Receptor for interleukin-12. This subunit is the signaling component coupling to the JAK2/STAT4 pathway. Promotes the proliferation of T-cells as well as NK cells. Induces the promotion of T-cells towards the Th1 phenotype by strongly enhancing IFN-gamma production. On IL12 binding, phosphorylated on C-terminal tyrosine residues by JAK2. Phosphorylation on Tyr-800 is required for STAT4 binding and activation, and for SOCS3 binding. Belongs to the type I cytokine receptor family. Type 2 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-35 Signalling;Interleukin-12 signaling PE1 1 +NX_Q99666 RANBP2-like and GRIP domain-containing protein 5/6 1765 198924 6.03 0 Cytoplasm;Nucleus envelope NA NA NA NA NA PE1 2 +NX_Q99674 Cell growth regulator with EF hand domain protein 1 318 33456 4.32 0 Golgi apparatus;Secreted NA Mediates cell-cell adhesion in a calcium-dependent manner (By similarity). Able to inhibit growth in several cell lines. Probably digested extracellularly by an unknown serine protease generating extremely hydrophobic bioactive peptides. NA NA PE1 2 +NX_Q99675 Cell growth regulator with RING finger domain protein 1 332 38242 5.05 0 Endoplasmic reticulum;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Able to inhibit growth in several cell lines. NA NA NA PE1 14 +NX_Q99676 Zinc finger protein 184 751 86174 8.41 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 6 +NX_Q99677 Lysophosphatidic acid receptor 4 370 41895 9.28 7 Cytoplasmic vesicle;Nucleus;Cell membrane NA Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. Transduces a signal by increasing the intracellular calcium ions and by stimulating adenylyl cyclase activity. The rank order of potency for agonists of this receptor is 1-oleoyl- > 1-stearoyl- > 1-palmitoyl- > 1-myristoyl- > 1-alkyl- > 1-alkenyl-LPA. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (q) signalling events;P2Y receptors PE1 X +NX_Q99678 G-protein coupled receptor 20 358 38650 9.36 7 Cytosol;Cell membrane NA Orphan receptor with constitutive G(i) signaling activity that activate cyclic AMP. NA Belongs to the G-protein coupled receptor 1 family. G alpha (s) signalling events PE1 8 +NX_Q99679 Probable G-protein coupled receptor 21 349 39515 7.87 7 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 9 +NX_Q99680 G-protein coupled receptor 22 433 49265 9.43 7 Cell membrane NA Orphan G-protein coupled receptor. Seems to act through a G(i)/G(o) mediated pathway (PubMed:18539757). May be involved in ciliogenesis (By similarity). NA Belongs to the G-protein coupled receptor 1 family. NA PE2 7 +NX_Q99683 Mitogen-activated protein kinase kinase kinase 5 1374 154537 5.52 0 Endoplasmic reticulum;Cytosol;Cytoplasm NA Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Mediates signaling for determination of cell fate such as differentiation and survival. Plays a crucial role in the apoptosis signal transduction pathway through mitochondria-dependent caspase activation. MAP3K5/ASK1 is required for the innate immune response, which is essential for host defense against a wide range of pathogens. Mediates signal transduction of various stressors like oxidative stress as well as by receptor-mediated inflammatory signals, such as the tumor necrosis factor (TNF) or lipopolysaccharide (LPS). Once activated, acts as an upstream activator of the MKK/JNK signal transduction cascade and the p38 MAPK signal transduction cascade through the phosphorylation and activation of several MAP kinase kinases like MAP2K4/SEK1, MAP2K3/MKK3, MAP2K6/MKK6 and MAP2K7/MKK7. These MAP2Ks in turn activate p38 MAPKs and c-jun N-terminal kinases (JNKs). Both p38 MAPK and JNKs control the transcription factors activator protein-1 (AP-1). Ubiquitinated. Tumor necrosis factor (TNF) induces TNFR2-dependent ubiquitination leading to proteasomal degradation.;Phosphorylated at Thr-838 through autophosphorylation and by MAP3K6/ASK2 which leads to activation. Thr-838 is dephosphorylated by PPP5C. Ser-83 and Ser-1033 are inactivating phosphorylation sites, the former of which is phosphorylated by AKT1 and AKT2. Phosphorylated at Ser-966 which induces association of MAP3K5/ASK1 with the 14-3-3 family proteins and suppresses MAP3K5/ASK1 activity. Calcineurin (CN) dephosphorylates this site. Also dephosphorylated and activated by PGAM5.;MAP3K5 is phosphorylated by IGF1R (Phosphotyrosine:PTM-0255);MAP3K5 is phosphorylated by CAMK2G (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MAP3K5 is phosphorylated by DYRK1A (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. MAPK signaling pathway;Protein processing in endoplasmic reticulum;Neurotrophin signaling pathway;Amyotrophic lateral sclerosis (ALS);Oxidative Stress Induced Senescence PE1 6 +NX_Q99684 Zinc finger protein Gfi-1 422 45297 9.24 0 Nucleus Neutropenia, severe congenital 2, autosomal dominant;Dominant nonimmune chronic idiopathic neutropenia of adults Transcription repressor essential for hematopoiesis. Functions in a cell-context and development-specific manner. Binds to 5'-TAAATCAC[AT]GCA-3' in the promoter region of a large number of genes. Component of several complexes, including the EHMT2-GFI1-HDAC1, AJUBA-GFI1-HDAC1 and RCOR-GFI-KDM1A-HDAC complexes, that suppress, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. Regulates neutrophil differentiation, promotes proliferation of lymphoid cells, and is required for granulocyte development. Mediates, together with U2AF1L4, the alternative splicing of CD45 and controls T-cell receptor signaling. Regulates the endotoxin-mediated Toll-like receptor (TLR) inflammatory response by antagonizing RELA. Cooperates with CBFA2T2 to regulate ITGB1-dependent neurite growth. Controls cell-cycle progression by repressing CDKNIA/p21 transcription in response to TGFB1 via recruitment of GFI1 by ZBTB17 to the CDKNIA/p21 and CDKNIB promoters. Required for the maintenance of inner ear hair cells. Ubiquitinated. Ubiquitination and degradation by the proteasome is inhibited by the ubiquitin ligase, ARIH2. NA Transcriptional regulation of granulopoiesis PE1 1 +NX_Q99685 Monoglyceride lipase 303 33261 6.49 0 Membrane;Nucleoplasm;Cytosol NA Converts monoacylglycerides to free fatty acids and glycerol (PubMed:19029917, PubMed:20079333, PubMed:21049984, PubMed:22969151, PubMed:24368842). Hydrolyzes the endocannabinoid 2-arachidonoylglycerol, and thereby contributes to the regulation of endocannabinoid signaling, nociperception and perception of pain (PubMed:19029917, PubMed:20079333, PubMed:21049984, PubMed:22969151, PubMed:24368842). Regulates the levels of fatty acids that serve as signaling molecules and promote cancer cell migration, invasion and tumor growth (PubMed:20079333). NA Belongs to the AB hydrolase superfamily. Monoacylglycerol lipase family. Glycerolipid metabolism; triacylglycerol degradation.;Glycerolipid metabolism;Metabolic pathways;Acyl chain remodeling of DAG and TAG;Triglyceride catabolism;Arachidonate production from DAG PE1 3 +NX_Q99687 Homeobox protein Meis3 375 41115 5 0 Nucleus NA Transcriptional regulator which directly modulates PDPK1 expression, thus promoting survival of pancreatic beta-cells. Also regulates expression of NDFIP1, BNIP3, and CCNG1. NA Belongs to the TALE/MEIS homeobox family. NA PE2 19 +NX_Q99689 Fasciculation and elongation protein zeta-1 392 45119 4.24 0 Cytosol;Centrosome;Cytoskeleton;Cell membrane NA May be involved in axonal outgrowth as component of the network of molecules that regulate cellular morphology and axon guidance machinery. Able to restore partial locomotion and axonal fasciculation to C.elegans unc-76 mutants in germline transformation experiments. May participate in the transport of mitochondria and other cargos along microtubules. Polyubiquitinated in a UBE4B-dependent manner; which does not lead to proteasomal degradation and may be important for neurogenic activity. Polyubiquitin linkage seems to be mainly through Lys-26.;Phosphorylated by protein kinase C zeta; which enhances interaction with UBE4B and polyubiquitination. Belongs to the zygin family. NA PE1 11 +NX_Q99697 Pituitary homeobox 2 317 35370 9.53 0 Nucleoplasm;Nucleus Axenfeld-Rieger syndrome 1;Anterior segment dysgenesis 4;Ring dermoid of cornea Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper localization of asymmetric organs such as the heart and stomach.;Is involved in left-right asymmetry the developing embryo (By similarity). Phosphorylation at Thr-90 impairs its association with the CCND1 mRNA-stabilizing complex thus shortening the half-life of CCND1. Belongs to the paired homeobox family. Bicoid subfamily. TGF-beta signaling pathway;TFAP2 (AP-2) family regulates transcription of other transcription factors PE1 4 +NX_Q99698 Lysosomal-trafficking regulator 3801 429139 6.15 0 Nucleoplasm;Cytoplasm;Centriolar satellite;Cell membrane Chediak-Higashi syndrome May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules. NA NA NA PE1 1 +NX_Q99700 Ataxin-2 1313 140283 9.6 0 Cytoplasm;Cytosol Spinocerebellar ataxia 2;Amyotrophic lateral sclerosis 13 Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane. NA Belongs to the ataxin-2 family. NA PE1 12 +NX_Q99704 Docking protein 1 481 52392 6.05 0 Cytoplasm;Cytosol;Perinuclear region;Nucleus NA DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK1 appears to be a negative regulator of the insulin signaling pathway. Modulates integrin activation by competing with talin for the same binding site on ITGB3. Constitutively tyrosine-phosphorylated. Phosphorylated by TEC (By similarity). Phosphorylated by LYN (By similarity). Phosphorylated on tyrosine residues by the insulin receptor kinase. Results in the negative regulation of the insulin signaling pathway. Phosphorylated on tyrosine residues by SRMS.;DOK1 is phosphorylated by TEC (Phosphotyrosine:PTM-0255);DOK1 is phosphorylated by FYN (Phosphotyrosine:PTM-0255);DOK1 is phosphorylated by ABL2 (Phosphotyrosine:PTM-0255);DOK1 is phosphorylated by LYN (Phosphotyrosine:PTM-0255) Belongs to the DOK family. Type A subfamily. Measles;PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1;RET signaling PE1 2 +NX_Q99705 Melanin-concentrating hormone receptor 1 422 45963 9.23 7 Cell membrane NA Receptor for melanin-concentrating hormone, coupled to both G proteins that inhibit adenylyl cyclase and G proteins that activate phosphoinositide hydrolysis. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors;G alpha (q) signalling events;BBSome-mediated cargo-targeting to cilium PE1 22 +NX_Q99706 Killer cell immunoglobulin-like receptor 2DL4 377 41487 7.29 1 Early endosome membrane;Cell membrane NA Receptor for non-classical major histocompatibility class Ib HLA-G molecules. Recognizes HLA-G in complex with B2M/beta-2 microglobulin and a nonamer self-peptide (peptide-bound HLA-G-B2M). In decidual NK cells, binds peptide-bound HLA-G-B2M complex and triggers NK cell senescence-associated secretory phenotype as a molecular switch to promote vascular remodeling and fetal growth in early pregnancy (PubMed:23184984, PubMed:29262349, PubMed:16366734). May play a role in balancing tolerance and antiviral-immunity at maternal-fetal interface by keeping in check the effector functions of NK, CD8+ T cells and B cells (PubMed:10190900, PubMed:16366734). Upon interaction with peptide-bound HLA-G-B2M, initiates signaling from the endosomal compartment leading to downstream activation of PRKDC-XRCC5 and AKT1, and ultimately triggering NF-kappa-B-dependent proinflammatory response (PubMed:20179272). NA Belongs to the immunoglobulin superfamily. Antigen processing and presentation;Natural killer cell mediated cytotoxicity;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_Q99707 Methionine synthase 1265 140527 5.39 0 Cytoplasm;Cytosol Homocystinuria-megaloblastic anemia, cblG complementation type;Neural tube defects, folate-sensitive Catalyzes the transfer of a methyl group from methyl-cobalamin to homocysteine, yielding enzyme-bound cob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate (By similarity). NA Belongs to the vitamin-B12 dependent methionine synthase family. Amino-acid biosynthesis; L-methionine biosynthesis via de novo pathway; L-methionine from L-homocysteine (MetH route): step 1/1.;Cysteine and methionine metabolism;Selenocompound metabolism;One carbon pool by folate;Metabolic pathways;Methylation;Sulfur amino acid metabolism;Cobalamin (Cbl, vitamin B12) transport and metabolism;Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE;Defective MTR causes methylmalonic aciduria and homocystinuria type cblG PE1 1 +NX_Q99708 DNA endonuclease RBBP8 897 101942 5.92 0 Nucleoplasm;Nucleus;Chromosome Seckel syndrome 2;Jawad syndrome Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination (HR) pathway. HR is restricted to S and G2 phases of the cell cycle and preferentially repairs DSBs resulting from replication fork collapse. Key determinant of DSB repair pathway choice, as it commits cells to HR by preventing classical non-homologous end-joining (NHEJ). Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2 phase facilitating the generation of ssDNA. Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage (PubMed:10764811, PubMed:10910365, PubMed:15485915, PubMed:16581787, PubMed:16818604, PubMed:17965729, PubMed:19202191, PubMed:19759395, PubMed:20064462, PubMed:20829486). During immunoglobulin heavy chain class-switch recombination, promotes microhomology-mediated alternative end joining (A-NHEJ) and plays an essential role in chromosomal translocations (By similarity). Acetylated. Deacetylation by SIRT6 upon DNA damage promotes DNA end resection.;Hyperphosphorylation upon ionizing radiation results in dissociation from BRCA1. Phosphorylation at Thr-847 by CDK1 is essential for the recruitment to DNA and the DNA repair function. Phosphorylated on Ser-327 as cells enter G2 phase. This phosphorylation is required for binding BRCA1 and for the G2/M DNA damage transition checkpoint control. Phosphorylation at Thr-315, probably catalyzed by CDK2, is required for PIN1-binding, while phosphorylation at Ser-276 serves as a PIN1 isomerization site. Phosphorylation at Thr-315 is cell-cycle dependent. It steadily increases during S phase, peaks at late S/G2 phase, and drops at G1 (PubMed:23623683).;Ubiquitinated (PubMed:14654780, PubMed:16818604, PubMed:27561354). Ubiquitination at multiple sites by BRCA1 (via its N-terminal RING domain) does not lead to its proteasomal degradation but instead the ubiquitinated RBBP8 binds to chromatin following DNA damage and may play a role in G2/M checkpoint control (PubMed:16818604). Ubiquitinated by RNF138 at its N-terminus (PubMed:26502057). Ubiquitinated through 'Lys-48' by the E3 CUL3-KLHL15 complex; this modification leads to proteasomal degradation (PubMed:27561354). Ubiquitinated by the E3 FZR1/APC/C complex; this modification leads to proteasomal degradation (PubMed:25349192). Belongs to the COM1/SAE2/CtIP family. Meiotic recombination;G2/M DNA damage checkpoint;HDR through Single Strand Annealing (SSA);HDR through MMEJ (alt-NHEJ);HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Regulation of TP53 Activity through Phosphorylation;Transcriptional Regulation by E2F6 PE1 18 +NX_Q99712 ATP-sensitive inward rectifier potassium channel 15 375 42577 7.6 2 Membrane;Cytoplasmic vesicle;Cytosol;Cell membrane NA Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. NA Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ15 subfamily. Gastric acid secretion;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits PE1 21 +NX_Q99714 3-hydroxyacyl-CoA dehydrogenase type-2 261 26923 7.65 0 Mitochondrion HDS10 mitochondrial disease In addition to mitochondrial dehydrogenase activity, moonlights as a component of mitochondrial ribonuclease P, a complex that cleaves tRNA molecules in their 5'-ends (PubMed:18984158, PubMed:24549042, PubMed:25925575, PubMed:26950678, PubMed:28888424). Together with HSD17B10/MRPP2, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity (PubMed:23042678, PubMed:29040705). The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; HSD17B10/MRPP2 acting as a non-catalytic subunit (PubMed:23042678, PubMed:25925575, PubMed:28888424). The MRPP1-MRPP2 subcomplex also acts as a tRNA maturation platform: following 5'-end cleavage by the mitochondrial ribonuclease P complex, the MRPP1-MRPP2 subcomplex enhances the efficiency of 3'-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme (PubMed:29040705).;Mitochondrial dehydrogenase that catalyzes the beta-oxidation at position 17 of androgens and estrogens and has 3-alpha-hydroxysteroid dehydrogenase activity with androsterone (PubMed:9553139, PubMed:23042678, PubMed:12917011, PubMed:18996107, PubMed:25925575, PubMed:28888424). Catalyzes the third step in the beta-oxidation of fatty acids (PubMed:9553139, PubMed:12917011, PubMed:18996107, PubMed:25925575, PubMed:28888424). Carries out oxidative conversions of 7-alpha-OH and 7-beta-OH bile acids (PubMed:12917011). Also exhibits 20-beta-OH and 21-OH dehydrogenase activities with C21 steroids (PubMed:12917011). By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD) (PubMed:9338779). Essential for structural and functional integrity of mitochondria (PubMed:20077426). NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Valine, leucine and isoleucine degradation;Metabolic pathways;Alzheimer's disease;Branched-chain amino acid catabolism;tRNA processing in the mitochondrion;tRNA modification in the mitochondrion;rRNA processing in the mitochondrion PE1 X +NX_Q99715 Collagen alpha-1(XII) chain 3063 333147 5.38 0 Nucleoplasm;Extracellular matrix Bethlem myopathy 2;Ullrich congenital muscular dystrophy 2 Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix. The triple-helical tail is stabilized by disulfide bonds at each end.;O-glycosylation; glycosaminoglycan of chondroitin-sulfate type.;Hydroxylation on proline residues within the sequence motif, GXPG, is most likely to be 4-hydroxy as this fits the requirement for 4-hydroxylation in vertebrates. Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. Protein digestion and absorption;Collagen degradation;Collagen biosynthesis and modifying enzymes;Assembly of collagen fibrils and other multimeric structures;Collagen chain trimerization PE1 6 +NX_Q99717 Mothers against decapentaplegic homolog 5 465 52258 7.63 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD5 is a receptor-regulated SMAD (R-SMAD). Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase.;Ubiquitin-mediated proteolysis by SMAD-specific E3 ubiquitin ligase SMURF1. Belongs to the dwarfin/SMAD family. TGF-beta signaling pathway;Signaling by BMP PE1 5 +NX_Q99719 Septin-5 369 42777 6.21 0 Nucleoplasm;Cytosol;Cytoplasm;Cytoskeleton NA Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion (By similarity). In platelets, phosphorylated in response to thrombin, phorbol-12-myristate-13-acetate and collagen. Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. Parkinson's disease PE1 22 +NX_Q99720 Sigma non-opioid intracellular receptor 1 223 25128 5.61 1 Nucleus outer membrane;Endoplasmic reticulum membrane;Cell membrane;Lipid droplet;Growth cone;Cell junction;Membrane;Nucleus inner membrane;Nucleus envelope;Postsynaptic density;Cytoplasmic vesicle Amyotrophic lateral sclerosis 16, juvenile;Distal spinal muscular atrophy, autosomal recessive, 2 Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in the regulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channels like the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling through modulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. Plays a role in several other cell functions including proliferation, survival and death. Originally identified for its ability to bind various psychoactive drugs it is involved in learning processes, memory and mood alteration (PubMed:16472803, PubMed:9341151). Necessary for proper mitochondrial axonal transport in motor neurons, in particular the retrograde movement of mitochondria. Plays a role in protecting cells against oxidative stress-induced cell death via its interaction with RNF112 (By similarity). NA Belongs to the ERG2 family. NA PE1 9 +NX_Q99726 Zinc transporter 3 388 41945 6 6 Synaptosome;Lysosome membrane;Nucleolus;Nucleoplasm;Synaptic vesicle membrane;Cytoplasmic vesicle;Cytosol;Synaptic vesicle;Late endosome membrane NA Involved in accumulation of zinc in synaptic vesicles. NA Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. Zinc efflux and compartmentalization by the SLC30 family PE1 2 +NX_Q99727 Metalloproteinase inhibitor 4 224 25503 7.95 0 Secreted NA Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. Known to act on MMP-1, MMP-2, MMP-3, MMP-7 and MMP-9. NA Belongs to the protease inhibitor I35 (TIMP) family. NA PE1 3 +NX_Q99728 BRCA1-associated RING domain protein 1 777 86648 8.99 0 Cytoplasm;Cytosol;Nucleus speckle;Nucleus NA E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage. Processed during apoptosis. The homodimer is more susceptible to proteolytic cleavage than the BARD1/BRCA1 heterodimer. NA Protein modification; protein ubiquitination.;G2/M DNA damage checkpoint;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Nonhomologous End-Joining (NHEJ);Regulation of TP53 Activity through Phosphorylation;UCH proteinases;Metalloprotease DUBs PE1 2 +NX_Q99729 Heterogeneous nuclear ribonucleoprotein A/B 332 36225 8.21 0 Cytoplasm;Nucleoplasm;Nucleus NA Binds single-stranded RNA. Has a high affinity for G-rich and U-rich regions of hnRNA. Also binds to APOB mRNA transcripts around the RNA editing site. Dimethylation at Arg-322 is probably asymmetric. NA NA PE1 5 +NX_Q99731 C-C motif chemokine 19 98 10993 9.84 0 Secreted NA May play a role not only in inflammatory and immunological responses but also in normal lymphocyte recirculation and homing. May play an important role in trafficking of T-cells in thymus, and T-cell and B-cell migration to secondary lymphoid organs. Binds to chemokine receptor CCR7. Recombinant CCL19 shows potent chemotactic activity for T-cells and B-cells but not for granulocytes and monocytes. Binds to atypical chemokine receptor ACKR4 and mediates the recruitment of beta-arrestin (ARRB1/2) to ACKR4. NA Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines;Interleukin-10 signaling PE1 9 +NX_Q99732 Lipopolysaccharide-induced tumor necrosis factor-alpha factor 161 17107 5.99 0 Cytoplasm;Nucleus;Endosome membrane;Cell membrane;Lysosome membrane;Nucleoplasm;Golgi apparatus membrane;Early endosome membrane;Cytoplasmic vesicle;Cytosol;Late endosome membrane Charcot-Marie-Tooth disease 1C Plays a role in endosomal protein trafficking and in targeting proteins for lysosomal degradation (PubMed:23166352). Plays a role in targeting endocytosed EGFR and ERGG3 for lysosomal degradation, and thereby helps downregulate downstream signaling cascades (PubMed:23166352). Helps recruit the ESCRT complex components TSG101, HGS and STAM to cytoplasmic membranes (PubMed:23166352). Probably plays a role in regulating protein degradation via its interaction with NEDD4 (PubMed:15776429). May also contribute to the regulation of gene expression in the nucleus (PubMed:10200294, PubMed:15793005). Binds DNA (in vitro) and may play a synergistic role with STAT6 in the nucleus in regulating the expression of various cytokines (PubMed:15793005). May regulate the expression of numerous cytokines, such as TNF, CCL2, CCL5, CXCL1, IL1A and IL10 (PubMed:10200294, PubMed:15793005). Phosphorylated on tyrosine residues in response to EGF. Belongs to the CDIP1/LITAF family. NA PE1 16 +NX_Q99733 Nucleosome assembly protein 1-like 4 375 42823 4.6 0 Cytoplasm;Nucleoplasm;Nucleus NA Acts as histone chaperone in nucleosome assembly. Phosphorylated at the G0/G1 boundary but it is not phosphorylated in S-phase. Phosphorylated protein remains in the cytoplasm in a complex with histones during the G0/G1 transition, whereas dephosphorylation triggers its transport into the nucleus at the G1/S-boundary.;Polyglutamylated by TTLL4, a modification that occurs exclusively on glutamate residues and results in polyglutamate chains on the gamma-carboxyl group. Some residues may also be monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human (By similarity). Belongs to the nucleosome assembly protein (NAP) family. NA PE1 11 +NX_Q99735 Microsomal glutathione S-transferase 2 147 16621 9.6 3 Microsome membrane;Endoplasmic reticulum membrane NA Can catalyze the production of LTC4 from LTA4 and reduced glutathione. Can catalyze the conjugation of 1-chloro-2,4-dinitrobenzene with reduced glutathione. NA Belongs to the MAPEG family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Glutathione conjugation;Aflatoxin activation and detoxification PE1 4 +NX_Q99741 Cell division control protein 6 homolog 560 62720 9.64 0 Cytoplasm;Nucleoplasm;Cytosol;Spindle;Nucleus;Cytoskeleton Meier-Gorlin syndrome 5 Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated. NA Belongs to the CDC6/cdc18 family. Cell cycle;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Activation of ATR in response to replication stress;CDC6 association with the ORC:origin complex;Assembly of the pre-replicative complex;Activation of the pre-replicative complex;G1/S-Specific Transcription;Transcription of E2F targets under negative control by DREAM complex PE1 17 +NX_Q99742 Neuronal PAS domain-containing protein 1 590 62702 8.61 0 Nucleoplasm;Nucleus NA May control regulatory pathways relevant to schizophrenia and to psychotic illness. May play a role in late central nervous system development by modulating EPO expression in response to cellular oxygen level (By similarity). Forms a heterodimer that binds core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) leading to transcriptional repression on its target gene TH (By similarity). NA NA NA PE2 19 +NX_Q99743 Neuronal PAS domain-containing protein 2 824 91791 6.35 0 Nucleoplasm;Nucleus NA Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. The NPAS2-ARNTL/BMAL1 heterodimer positively regulates the expression of MAOA, F7 and LDHA and modulates the circadian rhythm of daytime contrast sensitivity by regulating the rhythmic expression of adenylate cyclase type 1 (ADCY1) in the retina. NPAS2 plays an important role in sleep homeostasis and in maintaining circadian behaviors in normal light/dark and feeding conditions and in the effective synchronization of feeding behavior with scheduled food availability. Regulates the gene transcription of key metabolic pathways in the liver and is involved in DNA damage response by regulating several cell cycle and DNA repair genes. Controls the circadian rhythm of NR0B2 expression by binding rhythmically to its promoter (By similarity). Mediates the diurnal variation in the expression of GABARA1 receptor in the brain and contributes to the regulation of anxiety-like behaviors and GABAergic neurotransmission in the ventral striatum (By similarity). NA NA Circadian rhythm - mammal;PPARA activates gene expression;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock PE1 2 +NX_Q99747 Gamma-soluble NSF attachment protein 312 34746 5.3 0 Membrane;Cytosol;Cell membrane NA Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus. NA Belongs to the SNAP family. COPII-mediated vesicle transport;Intra-Golgi traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;Retrograde transport at the Trans-Golgi-Network PE1 18 +NX_Q99748 Neurturin 197 22405 10.92 0 Golgi apparatus;Secreted NA Supports the survival of sympathetic neurons in culture. May regulate the development and maintenance of the CNS. Might control the size of non-neuronal cell population such as haemopoietic cells. NA Belongs to the TGF-beta family. GDNF subfamily. RAF/MAP kinase cascade;NCAM1 interactions;RET signaling PE1 19 +NX_Q99750 MyoD family inhibitor 246 25029 4.29 0 Cytoplasm;Nucleoplasm;Nucleus NA Inhibits the transactivation activity of the Myod family of myogenic factors and represses myogenesis. Acts by associating with Myod family members and retaining them in the cytoplasm by masking their nuclear localization signals. Can also interfere with the DNA-binding activity of Myod family members. Plays an important role in trophoblast and chondrogenic differentiation. Regulates the transcriptional activity of TCF7L1/TCF3 by interacting directly with TCF7L1/TCF3 and preventing it from binding DNA. Binds to the axin complex, resulting in an increase in the level of free beta-catenin. Affects axin regulation of the WNT and JNK signaling pathways (By similarity). NA Belongs to the MDFI family. NA PE1 6 +NX_Q99755 Phosphatidylinositol 4-phosphate 5-kinase type-1 alpha 562 62633 8.41 0 Cytoplasm;Nucleus speckle;Cell membrane;Lamellipodium;Ruffle;Nucleus NA Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). PtdIns(4,5)P2 is involved in a variety of cellular processes and is the substrate to form phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3), another second messenger. The majority of PtdIns(4,5)P2 is thought to occur via type I phosphatidylinositol 4-phosphate 5-kinases given the abundance of PtdIns4P. Participates in a variety of cellular processes such as actin cytoskeleton organization, cell adhesion, migration and phagocytosis. Required for membrane ruffling formation, actin organization and focal adhesion formation during directional cell migration by controlling integrin-induced translocation of RAC1 to the plasma membrane. Together with PIP5K1C is required for phagocytosis, but they regulate different types of actin remodeling at sequential steps. Promotes particle ingestion by activating WAS that induces Arp2/3 dependent actin polymerization at the nascent phagocytic cup. Together with PIP5K1B is required after stimulation of G-protein coupled receptors for stable platelet adhesion. Plays a role during calcium-induced keratinocyte differentiation. Recruited to the plasma membrane by the E-cadherin/beta-catenin complex where it provides the substrate PtdIns(4,5)P2 for the production of PtdIns(3,4,5)P3, diacylglycerol and inositol 1,4,5-trisphosphate that mobilize internal calcium and drive keratinocyte differentiation. Together with PIP5K1C have a role during embryogenesis. Functions also in the nucleus where acts as an activator of TUT1 adenylyltransferase activity in nuclear speckles, thereby regulating mRNA polyadenylation of a select set of mRNAs (PubMed:18288197, PubMed:19158393, PubMed:20660631). Positively regulates insulin-induced translocation of SLC2A4 to the cell membrane in adipocytes (By similarity). NA NA Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Endocytosis;Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Synthesis of PIPs at the plasma membrane;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 1 +NX_Q99757 Thioredoxin, mitochondrial 166 18383 8.46 0 Mitochondrion Combined oxidative phosphorylation deficiency 29 Important for the control of mitochondrial reactive oxygen species homeostasis, apoptosis regulation and cell viability. Possesses a dithiol-reducing activity. NA Belongs to the thioredoxin family. Detoxification of Reactive Oxygen Species;Degradation of cysteine and homocysteine PE1 22 +NX_Q99758 ATP-binding cassette sub-family A member 3 1704 191362 7.55 14 Membrane;Nucleoplasm;Cytosol Pulmonary surfactant metabolism dysfunction 3 Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol. NA Belongs to the ABC transporter superfamily. ABCA family. ABC transporters;ABC transporters in lipid homeostasis;Surfactant metabolism;Defective ABCA3 causes pulmonary surfactant metabolism dysfunction 3 (SMDP3);Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3) PE1 16 +NX_Q99759 Mitogen-activated protein kinase kinase kinase 3 626 70898 8.98 0 Cytoplasm;Nucleoplasm NA Component of a protein kinase signal transduction cascade. Mediates activation of the NF-kappa-B, AP1 and DDIT3 transcriptional regulators. Phosphorylation at Ser-166 and Ser-337 by SGK1 inhibits its activity.;MAP3K3 is phosphorylated by WNK1 Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. MAPK signaling pathway;Neurotrophin signaling pathway;GnRH signaling pathway;HTLV-I infection;Interleukin-1 signaling PE1 17 +NX_Q99766 ATP synthase subunit s, mitochondrial 215 24866 7.51 0 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion NA Involved in regulation of mitochondrial membrane ATP synthase. Necessary for H(+) conduction of ATP synthase. Facilitates energy-driven catalysis of ATP synthesis by blocking a proton leak through an alternative proton exit pathway. NA Belongs to the ATP synthase subunit s family. Formation of ATP by chemiosmotic coupling;Cristae formation PE1 14 +NX_Q99767 Amyloid-beta A4 precursor protein-binding family A member 2 749 82512 4.77 0 Golgi apparatus NA Putative function in synaptic vesicle exocytosis by binding to STXBP1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta. NA NA Neurexins and neuroligins PE1 15 +NX_Q99784 Noelin 485 55343 6.48 0 Perikaryon;Secreted;Nucleolus;Endoplasmic reticulum;Nucleoplasm;Synapse;Cytosol;Axon NA Contributes to the regulation of axonal growth in the embryonic and adult central nervous system by inhibiting interactions between RTN4R and LINGO1. Inhibits RTN4R-mediated axon growth cone collapse (By similarity). May play an important role in regulating the production of neural crest cells by the neural tube (By similarity). May be required for normal responses to olfactory stimuli (By similarity). NA NA NA PE1 9 +NX_Q99788 Chemokine-like receptor 1 373 42322 8.71 7 Cell membrane NA Receptor for the chemoattractant adipokine chemerin/RARRES2 and for the omega-3 fatty acid derived molecule resolvin E1. Interaction with RARRES2 induces activation of intracellular signaling molecules, such as SKY, MAPK1/3 (ERK1/2), MAPK14/P38MAPK and PI3K leading to multifunctional effects, like, reduction of immune responses, enhancing of adipogenesis and angionesis. Resolvin E1 down-regulates cytokine production in macrophages by reducing the activation of MAPK1/3 (ERK1/2) and NF-kappa-B. Positively regulates adipogenesis and adipocyte metabolism. Acts as a coreceptor for several SIV strains (SIVMAC316, SIVMAC239, SIVMACL7E-FR and SIVSM62A), as well as a primary HIV-1 strain (92UG024-2). NA Belongs to the G-protein coupled receptor 1 family. Class A/1 (Rhodopsin-like receptors) PE1 12 +NX_Q99795 Cell surface A33 antigen 319 35632 4.85 1 Membrane NA May play a role in cell-cell recognition and signaling. N-glycosylated, contains approximately 8 kDa of N-linked carbohydrate.;Palmitoylated. NA NA PE1 1 +NX_Q99797 Mitochondrial intermediate peptidase 713 80641 6.6 0 Mitochondrion matrix;Mitochondrion Combined oxidative phosphorylation deficiency 31 Cleaves proteins, imported into the mitochondrion, to their mature size. NA Belongs to the peptidase M3 family. NA PE1 13 +NX_Q99798 Aconitate hydratase, mitochondrial 780 85425 7.36 0 Mitochondrion Infantile cerebellar-retinal degeneration;Optic atrophy 9 Catalyzes the isomerization of citrate to isocitrate via cis-aconitate. NA Belongs to the aconitase/IPM isomerase family. Carbohydrate metabolism; tricarboxylic acid cycle; isocitrate from oxaloacetate: step 2/2.;Citrate cycle (TCA cycle);Glyoxylate and dicarboxylate metabolism;Metabolic pathways;Mitochondrial protein import;Citric acid cycle (TCA cycle) PE1 22 +NX_Q99801 Homeobox protein Nkx-3.1 234 26350 9.23 0 Nucleoplasm;Cytosol;Nucleus NA Transcription factor, which binds preferentially the consensus sequence 5'-TAAGT[AG]-3' and can behave as a transcriptional repressor. Plays an important role in normal prostate development, regulating proliferation of glandular epithelium and in the formation of ducts in prostate. Acts as a tumor suppressor controlling prostate carcinogenesis, as shown by the ability to inhibit proliferation and invasion activities of PC-3 prostate cancer cells. Ubiquitinated by TOPORS; monoubiquitinated at several residues and also polyubiquitinated on single residues. Belongs to the NK-3 homeobox family. Pathways in cancer;Prostate cancer PE1 8 +NX_Q99805 Transmembrane 9 superfamily member 2 663 75776 7.22 9 Cytoplasm;Endosome membrane;Cell membrane NA In the intracellular compartments, may function as a channel or small molecule transporter. NA Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family. NA PE1 13 +NX_Q99807 5-demethoxyubiquinone hydroxylase, mitochondrial 217 24277 8.77 0 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion;Cell membrane Coenzyme Q10 deficiency, primary, 8 Catalyzes the hydroxylation of 2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2) during ubiquinone biosynthesis. Has also a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides. Involved in lifespan determination in a ubiquinone-independent manner. NA Belongs to the COQ7 family. Cofactor biosynthesis; ubiquinone biosynthesis.;Ubiquinone and other terpenoid-quinone biosynthesis;Metabolic pathways;Ubiquinol biosynthesis PE1 16 +NX_Q99808 Equilibrative nucleoside transporter 1 456 50219 8.62 11 Basolateral cell membrane;Apical cell membrane;Cell membrane NA Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). It is sensitive (ES) to low concentrations of the inhibitor nitrobenzylmercaptopurine riboside (NBMPR) and is sodium-independent. It has a higher affinity for adenosine. Inhibited by dipyridamole and dilazep (anticancer chemotherapeutics drugs). Glycosylated. Belongs to the SLC29A/ENT transporter (TC 2.A.57) family. Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane PE1 6 +NX_Q99811 Paired mesoderm homeobox protein 2 253 27079 10.15 0 Nucleoplasm;Nucleus NA May play a role in the scarless healing of cutaneous wounds during the first two trimesters of development. NA Belongs to the paired homeobox family. NA PE1 9 +NX_Q99814 Endothelial PAS domain-containing protein 1 870 96459 5.87 0 Nucleoplasm;Cytosol;Nucleus speckle;Nucleus Erythrocytosis, familial, 4 Transcription factor involved in the induction of oxygen regulated genes. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation requires recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX seems to activate CTAD (By similarity). In normoxia, is hydroxylated on Asn-847 by HIF1AN thus probably abrogating interaction with CREBBP and EP300 and preventing transcriptional activation.;The iron and 2-oxoglutarate dependent 3-hydroxylation of asparagine is (S) stereospecific within HIF CTAD domains.;In normoxia, is probably hydroxylated on Pro-405 and Pro-531 by EGLN1/PHD1, EGLN2/PHD2 and/or EGLN3/PHD3. The hydroxylated prolines promote interaction with VHL, initiating rapid ubiquitination and subsequent proteasomal degradation. Under hypoxia, proline hydroxylation is impaired and ubiquitination is attenuated, resulting in stabilization (By similarity).;Phosphorylated on multiple sites in the CTAD. NA Pathways in cancer;Renal cell carcinoma;Transcriptional regulation of pluripotent stem cells;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Regulation of gene expression by Hypoxia-inducible Factor;PTK6 Expression;Neddylation;Cellular response to hypoxia PE1 2 +NX_Q99816 Tumor susceptibility gene 101 protein 390 43944 6.06 0 Cytoplasm;Cell membrane;Nucleolus;Late endosome membrane;Centrosome;Early endosome membrane;Cytosol;Nucleus;Midbody ring NA Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Binds to ubiquitinated cargo proteins and is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs). Mediates the association between the ESCRT-0 and ESCRT-I complex. Required for completion of cytokinesis; the function requires CEP55. May be involved in cell growth and differentiation. Acts as a negative growth regulator. Involved in the budding of many viruses through an interaction with viral proteins that contain a late-budding motif P-[ST]-A-P. This interaction is essential for viral particle budding of numerous retroviruses. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). It may also play a role in the extracellular release of microvesicles that differ from the exosomes (PubMed:22315426). Monoubiquitinated at multiple sites by LRSAM1 and by MGRN1. Ubiquitination inactivates it, possibly by regulating its shuttling between an active membrane-bound protein and an inactive soluble form. Ubiquitination by MGRN1 requires the presence of UBE2D1. Belongs to the ubiquitin-conjugating enzyme family. UEV subfamily. Endocytosis;Budding and maturation of HIV virion;Membrane binding and targetting of GAG proteins;Endosomal Sorting Complex Required For Transport (ESCRT);Microautophagy PE1 11 +NX_Q99819 Rho GDP-dissociation inhibitor 3 225 25098 5.45 0 Cytoplasm;Cytosol;Cell membrane NA Inhibits GDP/GTP exchange reaction of RhoB. Interacts specifically with the GDP- and GTP-bound forms of post-translationally processed Rhob and Rhog proteins, both of which show a growth-regulated expression in mammalian cells. Stimulates the release of the GDP-bound but not the GTP-bound RhoB protein. Also inhibits the GDP/GTP exchange of RhoB but shows less ability to inhibit the dissociation of prebound GTP. NA Belongs to the Rho GDI family. Rho GTPase cycle PE1 16 +NX_Q99828 Calcium and integrin-binding protein 1 191 21703 4.65 0 trans-Golgi network;Cytoplasm;Filopodium tip;Perinuclear region;Cell membrane;Neuron projection;Growth cone;Perikaryon;Membrane;Nucleoplasm;Lamellipodium;Centrosome;Ruffle membrane;Apical cell membrane;Sarcolemma;Nucleus;Cytoskeleton Epidermodysplasia verruciformis 3 (Microbial infection) Involved in keratinocyte-intrinsic immunity to human beta-papillomaviruses (HPVs).;Plays a regulatory role in angiogenesis and tumor growth by mediating PKD/PRKD2-induced vascular endothelial growth factor A (VEGFA) secretion.;Calcium-binding protein that plays a role in the regulation of numerous cellular processes, such as cell differentiation, cell division, cell proliferation, cell migration, thrombosis, angiogenesis, cardiac hypertrophy and apoptosis. Involved in bone marrow megakaryocyte differentiation by negatively regulating thrombopoietin-mediated signaling pathway. Participates in the endomitotic cell cycle of megakaryocyte, a form of mitosis in which both karyokinesis and cytokinesis are interrupted. Plays a role in integrin signaling by negatively regulating alpha-IIb/beta3 activation in thrombin-stimulated megakaryocytes preventing platelet aggregation. Up-regulates PTK2/FAK1 activity, and is also needed for the recruitment of PTK2/FAK1 to focal adhesions; it thus appears to play an important role in focal adhesion formation. Positively regulates cell migration on fibronectin in a CDC42-dependent manner, the effect being negatively regulated by PAK1. Functions as a negative regulator of stress activated MAP kinase (MAPK) signaling pathways. Down-regulates inositol 1,4,5-trisphosphate receptor-dependent calcium signaling. Involved in sphingosine kinase SPHK1 translocation to the plasma membrane in a N-myristoylation-dependent manner preventing TNF-alpha-induced apoptosis. Regulates serine/threonine-protein kinase PLK3 activity for proper completion of cell division progression. Plays a role in microtubule (MT) dynamics during neuronal development; disrupts the MT depolymerization activity of STMN2 attenuating NGF-induced neurite outgrowth and the MT reorganization at the edge of lamellipodia. Promotes cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway. Stimulates calcineurin PPP3R1 activity by mediating its anchoring to the sarcolemma. In ischemia-induced (pathological or adaptive) angiogenesis, stimulates endothelial cell proliferation, migration and microvessel formation by activating the PAK1 and ERK1/ERK2 signaling pathway. Promotes also cancer cell survival and proliferation. May regulate cell cycle and differentiation of spermatogenic germ cells, and/or differentiation of supporting Sertoli cells. Phosphorylation of isoform 2 at Ser-118 by PRKD2 increases its ability to stimulate tumor angiogenesis. NA NA PE1 15 +NX_Q99829 Copine-1 537 59059 5.52 0 Cytoplasm;Cell membrane;Nucleus membrane;Nucleoplasm;Nucleus NA Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes (PubMed:14674885). Involved in the TNF-alpha receptor signaling pathway in a calcium-dependent manner (PubMed:14674885). Exhibits calcium-dependent phospholipid binding properties (PubMed:9430674, PubMed:19539605). Plays a role in neuronal progenitor cell differentiation; induces neurite outgrowth via a AKT-dependent signaling cascade and calcium-independent manner (PubMed:23263657, PubMed:25450385). May recruit target proteins to the cell membrane in a calcium-dependent manner (PubMed:12522145). May function in membrane trafficking (PubMed:9430674). Involved in TNF-alpha-induced NF-kappa-B transcriptional repression by inducing endoprotease processing of the transcription factor NF-kappa-B p65/RELA subunit (PubMed:18212740). Also induces endoprotease processing of NF-kappa-B p50/NFKB1, p52/NFKB2, RELB and REL (PubMed:18212740). NA Belongs to the copine family. Glycerophospholipid biosynthesis;Neutrophil degranulation PE1 20 +NX_Q99832 T-complex protein 1 subunit eta 543 59367 7.55 0 Cytoplasm;Cytosol NA Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). The TRiC complex plays a role in the folding of actin and tubulin (Probable). NA Belongs to the TCP-1 chaperonin family. Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Folding of actin by CCT/TriC;Association of TriC/CCT with target proteins during biosynthesis;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding PE1 2 +NX_Q99835 Smoothened homolog 787 86397 8.71 7 Membrane;Cilium Curry-Jones syndrome G protein-coupled receptor that probably associates with the patched protein (PTCH) to transduce the hedgehog's proteins signal. Binding of sonic hedgehog (SHH) to its receptor patched is thought to prevent normal inhibition by patched of smoothened (SMO). Required for the accumulation of KIF7, GLI2 and GLI3 in the cilia (PubMed:19592253). Interacts with DLG5 at the ciliary base to induce the accumulation of KIF7 and GLI2 at the ciliary tip for GLI2 activation (By similarity). SMO is phosphorylated by CSNK1A1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the G-protein coupled receptor Fz/Smo family. Hedgehog signaling pathway;Pathways in cancer;Basal cell carcinoma;Hedgehog 'on' state;BBSome-mediated cargo-targeting to cilium;Class B/2 (Secretin family receptors);Hedgehog 'off' state;Activation of SMO PE1 7 +NX_Q99836 Myeloid differentiation primary response protein MyD88 296 33233 5.89 0 Cytoplasm;Mitochondrion;Cytoplasmic vesicle;Cytosol;Nucleus MYD88 deficiency Adapter protein involved in the Toll-like receptor and IL-1 receptor signaling pathway in the innate immune response (PubMed:15361868, PubMed:18292575). Acts via IRAK1, IRAK2, IRF7 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:15361868, PubMed:24316379, PubMed:19506249). Increases IL-8 transcription (PubMed:9013863). Involved in IL-18-mediated signaling pathway. Activates IRF1 resulting in its rapid migration into the nucleus to mediate an efficient induction of IFN-beta, NOS2/INOS, and IL12A genes. MyD88-mediated signaling in intestinal epithelial cells is crucial for maintenance of gut homeostasis and controls the expression of the antimicrobial lectin REG3G in the small intestine (By similarity). Ubiquitinated; undergoes 'Lys-63'-linked polyubiquitination. OTUD4 specifically hydrolyzes 'Lys-63'-linked polyubiquitinated MYD88. NA Apoptosis;Toll-like receptor signaling pathway;Salmonella infection;Pertussis;Legionellosis;Leishmaniasis;Chagas disease (American trypanosomiasis);African trypanosomiasis;Malaria;Toxoplasmosis;Tuberculosis;Measles;Influenza A;Herpes simplex infection;ER-Phagosome pathway;PIP3 activates AKT signaling;MyD88:MAL(TIRAP) cascade initiated on plasma membrane;RIP-mediated NFkB activation via ZBP1;p75NTR recruits signalling complexes;DEx/H-box helicases activate type I IFN and inflammatory cytokines production;MyD88 deficiency (TLR2/4);MyD88 deficiency (TLR5);IRAK4 deficiency (TLR5);IRAK4 deficiency (TLR2/4);TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;MyD88 dependent cascade initiated on endosome;MyD88 cascade initiated on plasma membrane;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Interleukin-1 signaling PE1 3 +NX_Q99848 Probable rRNA-processing protein EBP2 306 34852 10.1 0 Nucleolus NA Required for the processing of the 27S pre-rRNA. NA Belongs to the EBP2 family. Major pathway of rRNA processing in the nucleolus and cytosol PE1 1 +NX_Q99853 Forkhead box protein B1 325 34978 9.66 0 Nucleoplasm;Mitochondrion;Nucleus NA NA NA NA NA PE1 15 +NX_Q99856 AT-rich interactive domain-containing protein 3A 593 62889 4.84 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Transcription factor which may be involved in the control of cell cycle progression by the RB1/E2F1 pathway and in B-cell differentiation. NA NA TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest PE1 19 +NX_Q99865 Spindlin-2A 258 29188 6.72 0 Nucleus NA May be involved in the regulation of cell cycle progression (By similarity). Exhibits H3K4me3-binding activity (PubMed:29061846). NA Belongs to the SPIN/STSY family. NA PE1 X +NX_Q99871 HAUS augmin-like complex subunit 7 368 40778 4.73 0 Cytoplasm;Cell membrane;Nucleolus;Centrosome;Cytosol;Spindle;Nucleus NA Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. NA Belongs to the HAUS7 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 X +NX_Q99873 Protein arginine N-methyltransferase 1 371 42462 5.18 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Arginine methyltransferase that methylates (mono and asymmetric dimethylation) the guanidino nitrogens of arginyl residues present in proteins such as ESR1, histone H2, H3 and H4, ILF3, HNRNPA1, HNRNPD, NFATC2IP, SUPT5H, TAF15, EWS, HABP4 and SERBP1 (PubMed:10749851, PubMed:16879614, PubMed:26876602). Constitutes the main enzyme that mediates monomethylation and asymmetric dimethylation of histone H4 'Arg-4' (H4R3me1 and H4R3me2a, respectively), a specific tag for epigenetic transcriptional activation. May be involved in the regulation of TAF15 transcriptional activity, act as an activator of estrogen receptor (ER)-mediated transactivation, play a key role in neurite outgrowth and act as a negative regulator of megakaryocytic differentiation, by modulating p38 MAPK pathway. Methylates RBM15, promoting ubiquitination and degradation of RBM15 (PubMed:26575292). Methylates FOXO1 and retains it in the nucleus increasing its transcriptional activity. Methylates CHTOP and this methylation is critical for its 5-hydroxymethylcytosine (5hmC)-binding activity (PubMed:25284789). Methylates H4R3 in genes involved in glioblastomagenesis in a CHTOP- and/or TET1-dependent manner (PubMed:25284789). Polyubiquitinated at Lys-145 by the SCF(FBXL17) complex, leading to its subsequent degradation. Ubiquitination is regulated by acetylation at Lys-228 and Lys-233.;Acetylation at Lys-228 and Lys-233 regulates ubiquitination by the SCF(FBXL17) complex. Acetylated at Lys-233 by p300/EP300. Deacetylated at Lys-228 and Lys-233 by SIRT1. Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family. RMTs methylate histone arginines;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Extra-nuclear estrogen signaling PE1 19 +NX_Q99877 Histone H2B type 1-N 126 13922 10.31 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons.;GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes (By similarity). Belongs to the histone H2B family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;G2/M DNA damage checkpoint;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Ub-specific processing proteases;E3 ubiquitin ligases ubiquitinate target proteins;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 6 +NX_Q99878 Histone H2A type 1-J 128 13936 10.88 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239).;Deiminated on Arg-4 in granulocytes upon calcium entry.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.;Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.;Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of 'Lys-27' of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and 'Lys-63'-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend 'Lys-63'-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). H2AK119Ub and ionizing radiation-induced 'Lys-63'-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events. Belongs to the histone H2A family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;RMTs methylate histone arginines;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;UCH proteinases;Ub-specific processing proteases;Metalloprotease DUBs;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 6 +NX_Q99879 Histone H2B type 1-M 126 13989 10.31 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination.;GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes (By similarity).;Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;ADP-ribosylated on Ser-7 in response to DNA damage. Belongs to the histone H2B family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;G2/M DNA damage checkpoint;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Ub-specific processing proteases;E3 ubiquitin ligases ubiquitinate target proteins;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 6 +NX_Q99880 Histone H2B type 1-L 126 13952 10.31 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes (By similarity).;Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons.;ADP-ribosylated on Ser-7 in response to DNA damage.;Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.;Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination. Belongs to the histone H2B family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;HATs acetylate histones;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;HDACs deacetylate histones;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Amyloid fiber formation;Pre-NOTCH Transcription and Translation;G2/M DNA damage checkpoint;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Ub-specific processing proteases;E3 ubiquitin ligases ubiquitinate target proteins;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 6 +NX_Q99884 Sodium-dependent proline transporter 636 70911 6.22 12 Membrane;Cytoplasm;Cell membrane NA Terminates the action of proline by its high affinity sodium-dependent reuptake into presynaptic terminals. NA Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A7 subfamily. Na+/Cl- dependent neurotransmitter transporters;Creatine metabolism PE1 5 +NX_Q99895 Chymotrypsin-C 268 29484 7.54 0 NA Pancreatitis, hereditary Regulates activation and degradation of trypsinogens and procarboxypeptidases by targeting specific cleavage sites within their zymogen precursors. Has chymotrypsin-type protease activity and hypocalcemic activity. NA Belongs to the peptidase S1 family. Elastase subfamily. Cobalamin (Cbl, vitamin B12) transport and metabolism PE1 1 +NX_Q99909 Protein SSX3 188 21697 8.82 0 NA NA Could act as a modulator of transcription. NA Belongs to the SSX family. NA PE1 X +NX_Q99928 Gamma-aminobutyric acid receptor subunit gamma-3 467 54289 7.46 4 Postsynaptic cell membrane;Cell membrane NA GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. May be palmitoylated. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG3 sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse;Signaling by ERBB4;GABA receptor activation PE2 15 +NX_Q99929 Achaete-scute homolog 2 193 20185 11.18 0 Nucleus NA AS-C proteins are involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. NA NA NA PE1 11 +NX_Q99932 Sperm-associated antigen 8 485 51139 5.63 0 Cytoplasm;Microtubule organizing center;Spindle;Nucleus;Acrosome NA Plays a role in spermatogenesis by enhancing the binding of CREM isoform tau to its coactivator FHL5 and increasing the FHL5-regulated transcriptional activation of CREM isoform tau (By similarity). Involved in the acrosome reaction and in binding of sperm to the zona pellucida (By similarity). Plays a role in regulation of the cell cycle by controlling progression through the G2/M phase, possibly by delaying the activation of CDK1 which is required for entry into mitosis (PubMed:19548270). May play a role in fertility and microtubule formation through interaction with RANBP9 (PubMed:10500252). NA Belongs to the SPAG8 family. NA PE1 9 +NX_Q99933 BAG family molecular chaperone regulator 1 345 38779 7.68 0 Cytoplasm;Nucleoplasm;Nucleus NA Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release. Nucleotide release is mediated via its binding to the nucleotide-binding domain (NBD) of HSPA8/HSC70 where as the substrate release is mediated via its binding to the substrate-binding domain (SBD) of HSPA8/HSC70 (PubMed:27474739, PubMed:9873016, PubMed:24318877). Inhibits the pro-apoptotic function of PPP1R15A, and has anti-apoptotic activity (PubMed:12724406). Markedly increases the anti-cell death function of BCL2 induced by various stimuli (PubMed:9305631). Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation. NA Protein processing in endoplasmic reticulum;Regulation of HSF1-mediated heat shock response PE1 9 +NX_Q99935 Opiorphin prepropeptide 248 27217 10.42 0 Secreted NA Opiorphin is an endogenous inhibitor of neprilysin and aminopeptidase N. Inhibits the breakdown of substance P, Mca-BK2 and Met-enkephalin by neprilysin in vitro with IC(50) values of 29 uM, 33 uM and 33 uM respectively. Inhibits the breakdown of Ala-pNA by aminopeptidase N in vitro with an IC(50) of 65 uM. Has a potent analgesic effect when administered to rats by intravenous injection. NA Belongs to the PROL1/PROL3 family. NA PE1 4 +NX_Q99941 Cyclic AMP-dependent transcription factor ATF-6 beta 703 76709 5.9 1 Nucleoplasm;Nucleus;Endoplasmic reticulum membrane;Nucleolus NA Transcriptional factor that acts in the unfolded protein response (UPR) pathway by activating UPR target genes induced during ER stress. Binds DNA on the 5'-CCAC[GA]-3' half of the ER stress response element (ERSE) (5'-CCAATN(9)CCAC[GA]-3') when NF-Y is bound to ERSE. N-glycosylated.;During unfolded protein response, a fragment of approximately 60 kDa containing the cytoplasmic transcription factor domain is released by proteolysis. The cleavage is probably performed sequentially by site-1 and site-2 proteases. Belongs to the bZIP family. ATF subfamily. Protein processing in endoplasmic reticulum;Dopaminergic synapse PE1 6 +NX_Q99942 E3 ubiquitin-protein ligase RNF5 180 19881 6.2 2 Mitochondrion membrane;Endoplasmic reticulum;Membrane;Endoplasmic reticulum membrane NA Has E2-dependent E3 ubiquitin-protein ligase activity. May function together with E2 ubiquitin-conjugating enzymes UBE2D1/UBCH5A and UBE2D2/UBC4. Mediates ubiquitination of PXN/paxillin and Salmonella type III secreted protein sopA. May be involved in regulation of cell motility and localization of PXN/paxillin. Mediates the 'Lys-63'-linked polyubiquitination of JKAMP thereby regulating JKAMP function by decreasing its association with components of the proteasome and ERAD; the ubiquitination appears to involve E2 ubiquitin-conjugating enzyme UBE2N. Mediates the 'Lys-48'-linked polyubiquitination of TMEM173 at 'Lys-150' leading to its proteasomal degradation; the ubiquitination occurs in mitochondria after viral transfection and regulates antiviral responses. NA NA Protein modification; protein ubiquitination.;Protein processing in endoplasmic reticulum;ER Quality Control Compartment (ERQC);ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis PE1 6 +NX_Q99943 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha 283 31717 9.48 2 Endoplasmic reticulum;Cytoplasm;Endoplasmic reticulum membrane NA Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. NA Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3.;Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Fat digestion and absorption;Synthesis of PA;ChREBP activates metabolic gene expression PE1 6 +NX_Q99944 Epidermal growth factor-like protein 8 293 32262 6.37 0 Cytoplasmic vesicle;Nucleus speckle;Secreted NA NA NA NA NA PE1 6 +NX_Q99946 Proline-rich transmembrane protein 1 306 31430 7.26 2 Synapse;Cell membrane NA NA NA Belongs to the CD225/Dispanin family. NA PE1 6 +NX_Q99952 Tyrosine-protein phosphatase non-receptor type 18 460 50482 8.57 0 Cytoplasm;Nucleus;Cytoskeleton NA Differentially dephosphorylate autophosphorylated tyrosine kinases which are known to be overexpressed in tumor tissues. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class 4 subfamily. Downregulation of ERBB2 signaling;Interleukin-37 signaling PE1 2 +NX_Q99954 Submaxillary gland androgen-regulated protein 3A 134 14048 9.62 0 Secreted NA May play a role in protection or detoxification. NA Belongs to the PROL1/PROL3 family. NA PE1 4 +NX_Q99956 Dual specificity protein phosphatase 9 384 41868 5.8 0 Endoplasmic reticulum;Cytoplasm NA Inactivates MAP kinases. Has a specificity for the ERK family. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. MAPK signaling pathway;RAF-independent MAPK1/3 activation;Negative regulation of MAPK pathway PE1 X +NX_Q99958 Forkhead box protein C2 501 53719 8.68 0 Nucleoplasm;Nucleus Lymphedema-distichiasis syndrome Transcriptional activator. Might be involved in the formation of special mesenchymal tissues. Phosphorylation regulates FOXC2 transcriptional activity by promoting its recruitment to chromatin. NA NA PE1 16 +NX_Q99959 Plakophilin-2 881 97415 9.39 0 Nucleoplasm;Cell junction;Desmosome;Nucleus Arrhythmogenic right ventricular dysplasia, familial, 9 May play a role in junctional plaques. NA Belongs to the beta-catenin family. Arrhythmogenic right ventricular cardiomyopathy (ARVC);Formation of the cornified envelope;Keratinization PE1 12 +NX_Q99961 Endophilin-A2 368 41490 5.31 0 Early endosome membrane;Cytoplasm;Cytosol;Podosome NA Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity). NA Belongs to the endophilin family. Endocytosis;EGFR downregulation;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Negative regulation of MET activity;InlB-mediated entry of Listeria monocytogenes into host cell PE1 19 +NX_Q99962 Endophilin-A1 352 39962 5.32 0 Cytoplasm;Early endosome;Membrane;Presynapse;Spindle;Cytoskeleton NA Implicated in synaptic vesicle endocytosis. May recruit other proteins to membranes with high curvature. Required for BDNF-dependent dendrite outgrowth. Cooperates with SH3GL2 to mediate BDNF-NTRK2 early endocytic trafficking and signaling from early endosomes. NA Belongs to the endophilin family. Endocytosis;MHC class II antigen presentation;Golgi Associated Vesicle Biogenesis;Retrograde neurotrophin signalling;EGFR downregulation;Lysosome Vesicle Biogenesis;Recycling pathway of L1;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Negative regulation of MET activity;InlB-mediated entry of Listeria monocytogenes into host cell PE1 9 +NX_Q99963 Endophilin-A3 347 39285 5.27 0 Early endosome membrane;Cytoplasm;Mitochondrion NA Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity). NA Belongs to the endophilin family. Endocytosis;EGFR downregulation;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Negative regulation of MET activity;InlB-mediated entry of Listeria monocytogenes into host cell PE1 15 +NX_Q99965 Disintegrin and metalloproteinase domain-containing protein 2 735 82457 5.77 1 Membrane NA Sperm surface membrane protein that may be involved in sperm-egg plasma membrane adhesion and fusion during fertilization. Could have a direct role in sperm-zona binding or migration of sperm from the uterus into the oviduct. Interactions with egg membrane could be mediated via binding between its disintegrin-like domain to one or more integrins receptors on the egg. This is a non catalytic metalloprotease-like protein. The prodomain and the metalloprotease domain are cleaved during the epididymal maturation of the spermatozoa. NA Interaction With Cumulus Cells And The Zona Pellucida PE1 8 +NX_Q99966 Cbp/p300-interacting transactivator 1 193 19896 4.63 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Transcriptional coactivator of the p300/CBP-mediated transcription complex. Enhances SMAD-mediated transcription by strengthening the functional link between the DNA-binding SMAD transcription factors and the p300/CBP transcription coactivator complex. Stimulates estrogen-dependent transactivation activity mediated by estrogen receptors signaling; stabilizes the interaction of estrogen receptor ESR1 and histone acetyltransferase EP300. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Induces transcription from estrogen-responsive promoters and protection against cell death. Potentiates EGR2-mediated transcriptional activation activity from the ERBB2 promoter. Acts as an inhibitor of osteoblastic mineralization through a cAMP-dependent parathyroid hormone receptor signaling. May play a role in pigmentation of melanocytes. Associates with chromatin to the estrogen-responsive TGF-alpha promoter region in a estrogen-dependent manner. Phosphorylated. Phosphorylation changes in a cell cycle-dependent manner and reduces its transcriptional coactivator activity. Belongs to the CITED family. Activation of the TFAP2 (AP-2) family of transcription factors;Estrogen-dependent gene expression PE1 X +NX_Q99967 Cbp/p300-interacting transactivator 2 270 28497 6.42 0 Nucleoplasm;Nucleus Ventricular septal defect 2;Atrial septal defect 8 Transcriptional coactivator of the p300/CBP-mediated transcription complex. Acts as a bridge, linking TFAP2 transcription factors and the p300/CBP transcriptional coactivator complex in order to stimulate TFAP2-mediated transcriptional activation. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Stimulates the peroxisome proliferator-activated receptors PPARA transcriptional activity. Enhances estrogen-dependent transactivation mediated by estrogen receptors. Acts also as a transcriptional corepressor; interferes with the binding of the transcription factors HIF1A or STAT2 and the p300/CBP transcriptional coactivator complex. Participates in sex determination and early gonad development by stimulating transcription activation of SRY. Plays a role in controlling left-right patterning during embryogenesis; potentiates transcriptional activation of NODAL-mediated gene transcription in the left lateral plate mesoderm (LPM). Plays an essential role in differentiation of the adrenal cortex from the adrenogonadal primordium (AGP); stimulates WT1-mediated transcription activation thereby up-regulating the nuclear hormone receptor NR5A1 promoter activity. Associates with chromatin to the PITX2 P1 promoter region. NA Belongs to the CITED family. Regulation of gene expression by Hypoxia-inducible Factor;Activation of the TFAP2 (AP-2) family of transcription factors;TFAP2 (AP-2) family regulates transcription of other transcription factors;FOXO-mediated transcription of cell death genes PE1 6 +NX_Q99969 Retinoic acid receptor responder protein 2 163 18618 9.3 0 Secreted NA Adipocyte-secreted protein (adipokine) that regulates adipogenesis, metabolism and inflammation through activation of the chemokine-like receptor 1 (CMKLR1). Its other ligands include G protein-coupled receptor 1 (GPR1) and chemokine receptor-like 2 (CCRL2). Positively regulates adipocyte differentiation, modulates the expression of adipocyte genes involved in lipid and glucose metabolism and might play a role in angiogenesis, a process essential for the expansion of white adipose tissue. Also acts as a proinflammatory adipokine, causing an increase in secretion of proinflammatory and prodiabetic adipokines, which further impair adipose tissue metabolic function and have negative systemic effects including impaired insulin sensitivity, altered glucose and lipid metabolism, and a decrease in vascular function in other tissues. Can have both pro- and anti-inflammatory properties depending on the modality of enzymatic cleavage by different classes of proteases. Acts as a chemotactic factor for leukocyte populations expressing CMKLR1, particularly immature plasmacytoid dendritic cells, but also immature myeloid DCs, macrophages and natural killer cells. Exerts an anti-inflammatory role by preventing TNF/TNFA-induced VCAM1 expression and monocytes adhesion in vascular endothelial cells. The effect is mediated via inhibiting activation of NF-kappa-B and CRK/p38 through stimulation of AKT1/NOS3 signaling and nitric oxide production. Its dual role in inflammation and metabolism might provide a link between chronic inflammation and obesity, as well as obesity-related disorders such as type 2 diabetes and cardiovascular disease. Exhibits an antimicrobial function in the skin. Secreted in an inactive precursor form, prochemerin, which is proteolytically processed by a variety of extracellular proteases to generate forms with differing levels of bioactivity. For example, the removal of six amino acids results in chemerin-157, which exhibits the highest activity, while removal of seven amino acids results in chemerin-156 which has slightly less activity. Some proteases are able to cleave at more than one site and chemerin forms may be sequentially processed by different enzymes to modulate activity levels. The coordinated expression and activity of chemerin-modifying enzymes is essential for regulating its bioactivation, inactivation and, consequently, biological function. Cathepsin G cleaves seven C-terminal amino acids from prochemerin (chemerin-156), elastase is able to cleave six (chemerin-157), eight (chemerin-155) or eleven (chemerin-152), plasmin cleaves five amino acids (chemerin-158), and tryptase cleaves five (chemerin-158) or eight (chemerin-155). Multiple cleavages might be required to fully activate chemerin, with an initial tryptase cleavage resulting in chemerin with low activity (chemerin-158), and a second cleavage by carboxypeptidase N or B producing highly active chemerin (chemerin-157). NA Platelet degranulation PE1 7 +NX_Q99972 Myocilin 504 56972 5.44 0 Mitochondrion outer membrane;Extracellular exosome;Golgi apparatus;Mitochondrion;Extracellular matrix;Mitochondrion intermembrane space;Cell projection;Secreted;Cilium;Rough endoplasmic reticulum;Endoplasmic reticulum;Extracellular space;Cytoplasmic vesicle;Mitochondrion inner membrane Glaucoma 3, primary congenital, A;Glaucoma 1, open angle, A Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Promotes substrate adhesion, spreading and formation of focal contacts. Negatively regulates cell-matrix adhesion and stress fiber assembly through Rho protein signal transduction. Modulates the organization of actin cytoskeleton by stimulating the formation of stress fibers through interactions with components of Wnt signaling pathways. Promotes cell migration through activation of PTK2 and the downstream phosphatidylinositol 3-kinase signaling. Plays a role in bone formation and promotes osteoblast differentiation in a dose-dependent manner through mitogen-activated protein kinase signaling. Mediates myelination in the peripheral nervous system through ERBB2/ERBB3 signaling. Plays a role as a regulator of muscle hypertrophy through the components of dystrophin-associated protein complex. Involved in positive regulation of mitochondrial depolarization. Plays a role in neurite outgrowth. May participate in the obstruction of fluid outflow in the trabecular meshwork. Glycosylated.;Palmitoylated.;Undergoes a calcium-dependent proteolytic cleavage at Arg-226 by CAPN2 in the endoplasmic reticulum. The result is the production of two fragments, one of 35 kDa containing the C-terminal olfactomedin-like domain, and another of 20 kDa containing the N-terminal leucine zipper-like domain.;Different isoforms may arise by post-translational modifications. NA NA PE1 1 +NX_Q99973 Telomerase protein component 1 2627 290490 8.26 0 Cytoplasmic vesicle;Nucleoplasm;Telomere;Nucleus NA Component of the telomerase ribonucleoprotein complex that is essential for the replication of chromosome termini (PubMed:19179534). Also component of the ribonucleoprotein vaults particle, a multi-subunit structure involved in nucleo-cytoplasmic transport (By similarity). Responsible for the localizing and stabilizing vault RNA (vRNA) association in the vault ribonucleoprotein particle. Binds to TERC (By similarity). NA NA NA PE1 14 +NX_Q99983 Osteomodulin 421 49492 5.34 0 Endoplasmic reticulum;Extracellular matrix;Nucleolus NA May be implicated in biomineralization processes. Has a function in binding of osteoblasts via the alpha(V)beta(3)-integrin (By similarity). Binds keratan sulfate chains. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily. Keratan sulfate biosynthesis;Defective CHST6 causes MCDC1;Keratan sulfate degradation;Defective B4GALT1 causes B4GALT1-CDG (CDG-2d);Defective ST3GAL3 causes MCT12 and EIEE15 PE1 9 +NX_Q99985 Semaphorin-3C 751 85207 8.96 0 Golgi apparatus;Cytosol;Secreted;Cell membrane NA Binds to plexin family members and plays an important role in the regulation of developmental processes. Required for normal cardiovascular development during embryogenesis. Functions as attractant for growing axons, and thereby plays an important role in axon growth and axon guidance (By similarity). NA Belongs to the semaphorin family. Axon guidance PE1 7 +NX_Q99986 Serine/threonine-protein kinase VRK1 396 45476 9.02 0 Cytoplasm;Nucleoplasm;Cytosol;Spindle;Nucleus Pontocerebellar hypoplasia 1A Serine/threonine kinase involved in Golgi disassembly during the cell cycle: following phosphorylation by PLK3 during mitosis, required to induce Golgi fragmentation. Acts by mediating phosphorylation of downstream target protein. Phosphorylates 'Thr-18' of p53/TP53 and may thereby prevent the interaction between p53/TP53 and MDM2. Phosphorylates casein and histone H3. Phosphorylates BANF1: disrupts its ability to bind DNA, reduces its binding to LEM domain-containing proteins and causes its relocalization from the nucleus to the cytoplasm. Phosphorylates ATF2 which activates its transcriptional activity. Autophosphorylated at various serine and threonine residues. Autophosphorylation does not impair its ability to phosphorylate p53/TP53. Phosphorylation by PLK3 leads to induction of Golgi fragmentation during mitosis. Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. VRK subfamily. Initiation of Nuclear Envelope Reformation;Nuclear Envelope Breakdown PE1 14 +NX_Q99988 Growth/differentiation factor 15 308 34140 9.79 0 Golgi apparatus;Secreted NA Regulates food intake, energy expenditure and body weight in response to metabolic and toxin-induced stresses (PubMed:28953886, PubMed:28846097, PubMed:28846098, PubMed:28846099, PubMed:23468844, PubMed:29046435). Binds to its receptor, GFRAL, and activates GFRAL-expressing neurons localized in the area postrema and nucleus tractus solitarius of the brainstem (PubMed:28953886, PubMed:28846097, PubMed:28846098, PubMed:28846099). It then triggers the activation of neurons localized within the parabrachial nucleus and central amygdala, which contitutes part of the 'emergency circuit' that shapes feeding responses to stressful conditions (PubMed:28953886). On hepatocytes, inhibits growth hormone signaling (By similarity). NA Belongs to the TGF-beta family. NA PE1 19 +NX_Q99990 Transcription cofactor vestigial-like protein 1 258 28707 9.26 0 Nucleoplasm;Nucleus NA May act as a specific coactivator for the mammalian TEFs. NA Belongs to the vestigial family. NA PE1 X +NX_Q99996 A-kinase anchor protein 9 3907 452987 4.95 0 Golgi apparatus;Cytoplasm;Centrosome;Cytoplasmic vesicle Long QT syndrome 11 Associated with the N-methyl-D-aspartate receptor and is specifically found in the neuromuscular junction (NMJ) as well as in neuronal synapses, suggesting a role in the organization of postsynaptic specializations.;Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15047863). Required for microtubule nucleation at the cis-side of the Golgi apparatus (PubMed:15047863, PubMed:19242490). Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase (PubMed:25657325). In complex with PDE4DIP isoform 13/MMG8/SMYLE, recruits CAMSAP2 to the Golgi apparatus and tethers non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745, PubMed:28814570). In complex with PDE4DIP isoform 13/MMG8/SMYLE, EB1/MAPRE1 and CDK5RAP2, contributes to microtubules nucleation and extension also from the centrosome to the cell periphery (PubMed:29162697). NA NA Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2;Phase 3 - rapid repolarisation;Phase 2 - plateau phase;Signaling by BRAF and RAF fusions PE1 7 +NX_Q99999 Galactosylceramide sulfotransferase 423 48764 8.84 1 Cytoplasmic vesicle;Golgi apparatus membrane NA Catalyzes the sulfation of membrane glycolipids. Seems to prefer beta-glycosides at the non-reducing termini of sugar chains attached to a lipid moiety. Catalyzes the synthesis of galactosylceramide sulfate (sulfatide), a major lipid component of the myelin sheath and of monogalactosylalkylacylglycerol sulfate (seminolipid), present in spermatocytes (By similarity). Also acts on lactosylceramide, galactosyl 1-alkyl-2-sn-glycerol and galactosyl diacylglycerol (in vitro). NA Belongs to the galactose-3-O-sulfotransferase family. Lipid metabolism; sphingolipid metabolism.;Sphingolipid metabolism;Metabolic pathways PE1 22 +NX_Q9BPU6 Dihydropyrimidinase-related protein 5 564 61421 6.73 0 Nucleoplasm;Cytosol;Cytoplasm NA May have a function in neuronal differentiation and/or axon growth. NA Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family. Axon guidance;CRMPs in Sema3A signaling PE1 2 +NX_Q9BPU9 B9 domain-containing protein 2 175 19261 7.14 0 Cilium basal body;Cilium axoneme;Nucleus Meckel syndrome 10;Joubert syndrome 34 Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. NA Belongs to the B9D family. Separation of Sister Chromatids;Anchoring of the basal body to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 19 +NX_Q9BPV8 P2Y purinoceptor 13 354 40789 9.94 7 Cell membrane NA Receptor for ADP. Coupled to G(i)-proteins. May play a role in hematopoiesis and the immune system. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;P2Y receptors PE1 3 +NX_Q9BPW4 Apolipoprotein L4 351 39164 7.78 0 Cytoplasmic vesicle;Secreted NA May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver (By similarity). NA Belongs to the apolipoprotein L family. NA PE1 22 +NX_Q9BPW5 Ras-like protein family member 11B 248 27508 9.28 0 Nucleus NA NA NA Belongs to the small GTPase superfamily. Ras family. NA PE2 4 +NX_Q9BPW8 Protein NipSnap homolog 1 284 33310 9.35 0 NA NA NA NA Belongs to the NipSnap family. NA PE1 22 +NX_Q9BPW9 Dehydrogenase/reductase SDR family member 9 319 35227 8.78 0 Microsome membrane;Endoplasmic reticulum membrane NA 3-alpha-hydroxysteroid dehydrogenase that converts 3-alpha-tetrahydroprogesterone (allopregnanolone) to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone (PubMed:11294878, PubMed:29541409). Plays also a role in the biosynthesis of retinoic acid from retinaldehyde (PubMed:11304534, PubMed:12618084). Can utilize both NADH and NADPH. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Retinol metabolism;Metabolic pathways;The canonical retinoid cycle in rods (twilight vision);RA biosynthesis pathway PE1 2 +NX_Q9BPX1 17-beta-hydroxysteroid dehydrogenase 14 270 28317 5.8 0 Cytoplasm NA Has NAD-dependent 17-beta-hydroxysteroid dehydrogenase activity. Converts oestradiol to oestrone. The physiological substrate is not known. Acts on oestradiol and 5-androstene-3-beta,17-beta-diol (in vitro). NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Estrogen biosynthesis PE1 19 +NX_Q9BPX3 Condensin complex subunit 3 1015 114334 5.44 0 Cytoplasm;Nucleus;Chromosome NA Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. Phosphorylated by CDK1. Its phosphorylation, as well as that of NCAPD2 and NCAPH subunits, activates the condensin complex and is required for chromosome condensation (By similarity). Belongs to the CND3 (condensin subunit 3) family. Condensation of Prometaphase Chromosomes PE1 4 +NX_Q9BPX5 Actin-related protein 2/3 complex subunit 5-like protein 153 16941 6.15 0 Cytoskeleton NA May function as component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. NA Belongs to the ARPC5 family. Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Pathogenic Escherichia coli infection;Shigellosis;Salmonella infection PE1 9 +NX_Q9BPX6 Calcium uptake protein 1, mitochondrial 476 54351 8.61 1 Mitochondrion intermembrane space;Mitochondrion;Mitochondrion inner membrane Myopathy with extrapyramidal signs Key regulator of mitochondrial calcium uniporter (MCU) that senses calcium level via its EF-hand domains (PubMed:20693986, PubMed:23101630, PubMed:23747253, PubMed:24313810, PubMed:24332854, PubMed:24503055, PubMed:24560927, PubMed:26341627, PubMed:26903221, PubMed:27099988). MICU1 and MICU2 form a disulfide-linked heterodimer that stimulates and inhibits MCU activity, depending on the concentration of calcium. MICU1 acts both as an activator or inhibitor of mitochondrial calcium uptake (PubMed:26903221). Acts as a gatekeeper of MCU at low concentration of calcium, preventing channel opening (PubMed:26903221). Enhances MCU opening at high calcium concentration, allowing a rapid response of mitochondria to calcium signals generated in the cytoplasm (PubMed:24560927, PubMed:26903221). Regulates glucose-dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake (PubMed:22904319). Induces T-helper 1-mediated autoreactivity, which is accompanied by the release of IFNG (PubMed:16002733). NA Belongs to the MICU1 family. MICU1 subfamily. Processing of SMDT1;Mitochondrial calcium ion transport PE1 10 +NX_Q9BPX7 UPF0415 protein C7orf25 421 46451 6 0 Nucleoplasm;Cytosol NA NA NA Belongs to the UPF0415 family. NA PE1 7 +NX_Q9BPY3 Protein FAM118B 351 39499 5.65 0 Cajal body NA May play a role in Cajal bodies formation. NA Belongs to the FAM118 family. NA PE1 11 +NX_Q9BPY8 Homeodomain-only protein 73 8260 4.8 0 Cytoplasm;Cytosol;Nucleus;Cytoskeleton NA Atypical homeodomain protein which does not bind DNA and is required to modulate cardiac growth and development. Acts via its interaction with SRF, thereby modulating the expression of SRF-dependent cardiac-specific genes and cardiac development. Prevents SRF-dependent transcription either by inhibiting SRF binding to DNA or by recruiting histone deacetylase (HDAC) proteins that prevent transcription by SRF. Overexpression causes cardiac hypertrophy (By similarity). May act as a tumor suppressor. Acts as a co-chaperone for HSPA1A and HSPA1B chaperone proteins and assists in chaperone-mediated protein refolding (PubMed:27708256). NA NA NA PE1 4 +NX_Q9BPZ2 Spindlin-2B 258 29158 6.72 0 Nucleus NA Involved in the regulation of cell cycle progression, this activity is related to the inhibition of apoptosis following the removal of essential growth factors (PubMed:12145692). Exhibits H3K4me3-binding activity (PubMed:29061846). NA Belongs to the SPIN/STSY family. NA PE1 X +NX_Q9BPZ3 Polyadenylate-binding protein-interacting protein 2 127 14984 4.03 0 Cytoplasm;Cytoplasmic vesicle NA Acts as a repressor in the regulation of translation initiation of poly(A)-containing mRNAs. Its inhibitory activity on translation is mediated via its action on PABPC1. Displaces the interaction of PABPC1 with poly(A) RNA and competes with PAIP1 for binding to PABPC1. Its association with PABPC1 results in disruption of the cytoplasmic poly(A) RNP structure organization. Ubiquitinated, leading to its degradation by the proteasome. Belongs to the PAIP2 family. NA PE1 5 +NX_Q9BPZ7 Target of rapamycin complex 2 subunit MAPKAP1 522 59123 7.24 0 Cell membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. MTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. MTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. MTORC2 promotes the serum-induced formation of stress-fibers or F-actin. MTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDK1 which is a prerequisite for full activation. MTORC2 regulates the phosphorylation of SGK1 at 'Ser-422'. MTORC2 also modulates the phosphorylation of PRKCA on 'Ser-657'. Within mTORC2, MAPKAP1 is required for complex formation and mTORC2 kinase activity. MAPKAP1 inhibits MAP3K2 by preventing its dimerization and autophosphorylation. Inhibits HRAS and KRAS signaling. Enhances osmotic stress-induced phosphorylation of ATF2 and ATF2-mediated transcription. Involved in ciliogenesis, regulates cilia length through its interaction with CCDC28B independently of mTORC2 complex. NA Belongs to the SIN1 family. PIP3 activates AKT signaling;VEGFR2 mediated vascular permeability;CD28 dependent PI3K/Akt signaling;Constitutive Signaling by AKT1 E17K in Cancer;Regulation of TP53 Degradation PE1 9 +NX_Q9BQ04 RNA-binding protein 4B 359 40150 6.28 0 Nucleolus;Nucleus NA Required for the translational activation of PER1 mRNA in response to circadian clock. Binds directly to the 3'-UTR of the PER1 mRNA (By similarity). NA NA NA PE1 11 +NX_Q9BQ08 Resistin-like beta 111 11730 7.44 0 Secreted NA Probable hormone. NA Belongs to the resistin/FIZZ family. NA PE2 3 +NX_Q9BQ13 BTB/POZ domain-containing protein KCTD14 255 29591 8.78 0 Nucleoplasm;Cytosol;Cytoplasmic vesicle NA NA NA NA NA PE1 11 +NX_Q9BQ15 SOSS complex subunit B1 211 22338 9.17 0 Nucleoplasm;Nucleus NA Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. In the SOSS complex, acts as a sensor of single-stranded DNA that binds to single-stranded DNA, in particular to polypyrimidines. The SOSS complex associates with DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination-dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways. Phosphorylated by ATM in response to DNA damage. Phosphorylation prevents degradation by the proteasome, hence stabilization of the protein and accumulation within cells. Belongs to the SOSS-B family. SOSS-B1 subfamily. RNA polymerase II transcribes snRNA genes PE1 12 +NX_Q9BQ16 Testican-3 436 49429 4.79 0 Extracellular matrix NA May participate in diverse steps of neurogenesis. Inhibits the processing of pro-matrix metalloproteinase 2 (MMP-2) by MT1-MMP and MT3-MMP. May interfere with tumor invasion. Contains chondroitin sulfate and heparan sulfate O-linked oligosaccharides. NA Activation of Matrix Metalloproteinases PE1 4 +NX_Q9BQ24 Zinc finger FYVE domain-containing protein 21 234 26506 8.78 0 Cytoplasm;Endosome;Focal adhesion;Cytoplasmic vesicle NA Plays a role in cell adhesion, and thereby in cell motility which requires repeated formation and disassembly of focal adhesions. Regulates microtubule-induced PTK2/FAK1 dephosphorylation, an event important for focal adhesion disassembly, as well as integrin beta-1/ITGB1 cell surface expression. NA NA NA PE1 14 +NX_Q9BQ31 Potassium voltage-gated channel subfamily S member 3 491 56001 4.92 6 Golgi apparatus;Cytosol;Cell membrane NA Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 (PubMed:10484328). Heterotetrameric channel activity formed with KCNB1 show increased current amplitude with the threshold for action potential activation shifted towards more negative values in hypoxic-treated pulmonary artery smooth muscle cells (By similarity). NA Belongs to the potassium channel family. S (TC 1.A.1.2) subfamily. Kv9.3/KCNS3 sub-subfamily. Voltage gated Potassium channels;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion PE1 2 +NX_Q9BQ39 ATP-dependent RNA helicase DDX50 737 82565 9.26 0 Nucleolus NA NA NA Belongs to the DEAD box helicase family. DDX21/DDX50 subfamily. NA PE1 10 +NX_Q9BQ48 39S ribosomal protein L34, mitochondrial 92 10165 12.25 0 Mitochondrion NA NA NA Belongs to the bacterial ribosomal protein bL34 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 19 +NX_Q9BQ49 Small integral membrane protein 7 75 8631 7.9 1 Membrane;Golgi apparatus NA NA NA Belongs to the SMIM7 family. NA PE1 19 +NX_Q9BQ50 Three prime repair exonuclease 2 236 25922 5.68 0 Nucleus NA Exonuclease with a preference for double-stranded DNA with mismatched 3' termini. May play a role in DNA repair. NA Belongs to the exonuclease superfamily. TREX family. NA PE1 X +NX_Q9BQ51 Programmed cell death 1 ligand 2 273 30957 8.18 1 Cell membrane;Endomembrane system;Secreted;Cytosol NA Involved in the costimulatory signal, essential for T-cell proliferation and IFNG production in a PDCD1-independent manner. Interaction with PDCD1 inhibits T-cell proliferation by blocking cell cycle progression and cytokine production (By similarity). NA Belongs to the immunoglobulin superfamily. BTN/MOG family. Cell adhesion molecules (CAMs);PD-1 signaling PE1 9 +NX_Q9BQ52 Zinc phosphodiesterase ELAC protein 2 826 92219 8.13 0 Nucleoplasm;Mitochondrion;Nucleus Prostate cancer, hereditary, 2;Combined oxidative phosphorylation deficiency 17 Zinc phosphodiesterase, which displays mitochondrial tRNA 3'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA. NA Belongs to the RNase Z family. RNA transport;tRNA processing in the nucleus;tRNA processing in the mitochondrion;rRNA processing in the mitochondrion PE1 17 +NX_Q9BQ61 Telomerase RNA component interacting RNase 176 18419 9.46 0 Nucleoplasm;Nucleus NA Exoribonuclease that is part of the telomerase RNA 3' end processing complex and which has the ability to all four unpaired RNA nucleotides from 5' end or 3' end with higher efficiency for purine bases (PubMed:28322335). NA NA NA PE1 19 +NX_Q9BQ65 U6 snRNA phosphodiesterase 265 30268 6.06 0 Nucleoplasm;Nucleus Poikiloderma with neutropenia Phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as an exoribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate. NA Belongs to the 2H phosphoesterase superfamily. USB1 family. NA PE1 16 +NX_Q9BQ66 Keratin-associated protein 4-12 201 21407 8.37 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 4 family. NA PE1 17 +NX_Q9BQ67 Glutamate-rich WD repeat-containing protein 1 446 49419 4.82 0 Nucleoplasm;Nucleolus;Nucleus;Chromosome NA Histone binding-protein that regulates chromatin dynamics and minichromosome maintenance (MCM) loading at replication origins, possibly by promoting chromatin openness (PubMed:25990725). NA NA NA PE1 19 +NX_Q9BQ69 ADP-ribose glycohydrolase MACROD1 325 35505 9.58 0 Nucleoplasm;Nucleus NA Removes ADP-ribose from asparatate and glutamate residues in proteins bearing a single ADP-ribose moiety (PubMed:23474714, PubMed:23474712). Inactive towards proteins bearing poly-ADP-ribose (PubMed:23474714, PubMed:23474712). Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins (PubMed:21257746). Plays a role in estrogen signaling (PubMed:17893710, PubMed:17914104, PubMed:19403568). Binds to androgen receptor (AR) and amplifies the transactivation function of AR in response to androgen (PubMed:19022849). May play an important role in carcinogenesis and/or progression of hormone-dependent cancers by feed-forward mechanism that activates ESR1 transactivation (PubMed:17893710, PubMed:17914104). Could be an ESR1 coactivator, providing a positive feedback regulatory loop for ESR1 signal transduction (PubMed:17914104). Could be involved in invasive growth by down-regulating CDH1 in endometrial cancer cells (PubMed:17893710). Enhances ESR1-mediated transcription activity (PubMed:17914104). NA NA NA PE1 11 +NX_Q9BQ70 Transcription factor 25 676 76667 5.96 0 Nucleus NA May play a role in cell death control. Acts as a transcriptional repressor. Has been shown to repress transcription of SRF in vitro and so may play a role in heart development. NA Belongs to the TCF25 family. NA PE1 16 +NX_Q9BQ75 Protein CMSS1 279 31884 9.26 0 Mitochondrion;Nucleolus;Nucleus membrane;Nucleoplasm;Nucleus NA NA NA Belongs to the CMS1 family. NA PE1 3 +NX_Q9BQ83 Structure-specific endonuclease subunit SLX1 275 30771 6.59 0 Nucleoplasm;Nucleus NA Catalytic subunit of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5'-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products. NA Belongs to the SLX1 family. Fanconi anemia pathway;Fanconi anemia pathway;Resolution of D-loop Structures through Holliday Junction Intermediates;Fanconi Anemia Pathway PE1 16 +NX_Q9BQ87 F-box-like/WD repeat-containing protein TBL1Y 522 56688 5.33 0 Nucleus Deafness, Y-linked 2 F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange (By similarity). NA Belongs to the WD repeat EBI family. Wnt signaling pathway PE1 Y +NX_Q9BQ89 Protein FAM110A 295 31271 10.46 0 Cytoplasm;Nucleoplasm;Spindle pole;Centrosome;Cytoplasmic vesicle;Cytosol NA NA NA Belongs to the FAM110 family. NA PE1 20 +NX_Q9BQ90 Kelch domain-containing protein 3 382 43088 8.37 0 Cytoplasm;Nucleoplasm NA May be involved in meiotic recombination process. NA NA XBP1(S) activates chaperone genes PE1 6 +NX_Q9BQ95 Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial 431 49148 5.89 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cytosol;Nucleus NA Required for efficient assembly of mitochondrial NADH:ubiquinone oxidoreductase.;Adapter protein of the Toll-like and IL-1 receptor signaling pathway that is involved in the activation of NF-kappa-B via MAP3K1. Promotes proteolytic activation of MAP3K1. Involved in the BMP signaling pathway. Required for normal embryonic development (By similarity). NA Belongs to the ECSIT family. MAPK signaling pathway;MyD88:MAL(TIRAP) cascade initiated on plasma membrane;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;MyD88 cascade initiated on plasma membrane;Complex I biogenesis PE1 19 +NX_Q9BQA1 Methylosome protein 50 342 36724 5.03 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Cytosol;Nucleus NA Non-catalytic component of the methylosome complex, composed of PRMT5, WDR77 and CLNS1A, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins and histones (PubMed:11756452). This modification targets Sm proteins to the survival of motor neurons (SMN) complex for assembly into small nuclear ribonucleoprotein core particles. Might play a role in transcription regulation. The methylosome complex also methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tudor domain-containing proteins and subsequent localization to the meiotic nuage (PubMed:23071334). NA NA RMTs methylate histone arginines;snRNP Assembly PE1 1 +NX_Q9BQA5 Histone H4 transcription factor 517 59678 5.77 0 Nucleus NA Transcriptional repressor that binds to the consensus sequence 5'-CGGACGTT-3' and to the RB1 promoter. Transcriptional activator that promotes histone H4 gene transcription at the G1/S phase transition in conjunction with NPAT. Also activates transcription of the ATM and PRKDC genes. Autoregulates its expression by associating with its own promoter. Ubiquitinated. Ubiquitination may lead to proteasome-mediated degradation. NA NA PE1 11 +NX_Q9BQA9 Cytochrome b-245 chaperone 1 187 20774 6.3 1 Cell junction;Endoplasmic reticulum membrane;Cell membrane NA Necessary for a stable expression of the CYBA and CYBB subunits of the cytochrome b-245 heterodimer. Controls the phagocyte respiratory burst and is essential for innate immunity. NA Belongs to the CYBC1 family. NA PE1 17 +NX_Q9BQB4 Sclerostin 213 24031 9.43 0 Extracellular matrix Van Buchem disease;Sclerosteosis 1;Craniodiaphyseal dysplasia autosomal dominant Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation. NA Belongs to the sclerostin family. TCF dependent signaling in response to WNT;Negative regulation of TCF-dependent signaling by WNT ligand antagonists PE1 17 +NX_Q9BQB6 Vitamin K epoxide reductase complex subunit 1 163 18235 9.53 4 Endoplasmic reticulum;Endoplasmic reticulum membrane Combined deficiency of vitamin K-dependent clotting factors 2;Coumarin resistance Involved in vitamin K metabolism. Catalytic subunit of the vitamin K epoxide reductase (VKOR) complex which reduces inactive vitamin K 2,3-epoxide to active vitamin K. Vitamin K is required for the gamma-carboxylation of various proteins, including clotting factors, and is required for normal blood coagulation, but also for normal bone development. NA Belongs to the VKOR family. Metabolism of vitamin K PE1 16 +NX_Q9BQC3 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 489 52083 5.36 0 Nucleoplasm NA Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2). NA Belongs to the DPH1/DPH2 family. DPH2 subfamily. Protein modification; peptidyl-diphthamide biosynthesis.;Synthesis of diphthamide-EEF2 PE1 1 +NX_Q9BQC6 Ribosomal protein 63, mitochondrial 102 12266 11.45 0 Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mL63 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 13 +NX_Q9BQD1 Putative pro-MCH-like protein 2 86 9856 8.66 0 NA NA NA NA Belongs to the melanin-concentrating hormone family. NA PE5 5 +NX_Q9BQD3 KxDL motif-containing protein 1 176 19668 4.79 0 Cytosol;Lysosome membrane;Centrosome;Nucleolus NA As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). May be involved in the biogenesis of lysosome-related organelles such as melanosomes (By similarity). NA Belongs to the KXD1 family. NA PE1 19 +NX_Q9BQD7 Adenine nucleotide translocase lysine N-methyltransferase 235 25130 9.45 1 Mitochondrion membrane;Cytosol NA Mitochondrial protein-lysine N-methyltransferase that trimethylates adenine nucleotide translocases ANT2/SLC25A5 and ANT3/SLC25A6, thereby regulating mitochondrial respiration (PubMed:31213526). Probably also trimethylates ANT1/SLC25A4 (PubMed:31213526). NA Belongs to the ANT/ATPSC lysine N-methyltransferase family. NA PE1 16 +NX_Q9BQE3 Tubulin alpha-1C chain 449 49895 4.96 0 Cytoplasm;Cytoskeleton NA Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).;Tubulin alpha-1C chain: Tyrosination promotes microtubule interaction with CAP-Gly domain-containing proteins such as CLIP1, CLIP2 and DCTN1 (By similarity). Tyrosination regulates the initiation of dynein-dynactin motility via interaction with DCTN1, which brings the dynein-dynactin complex into contact with microtubules (PubMed:26972003). In neurons, tyrosinated tubulins mediate the initiation of retrograde vesicle transport (By similarity).;Detyrosinated tubulin alpha-1C chain: Detyrosination is involved in metaphase plate congression by guiding chromosomes during mitosis: detyrosination promotes interaction with CENPE, promoting pole-proximal transport of chromosomes toward the equator (PubMed:25908662). Detyrosination increases microtubules-dependent mechanotransduction in dystrophic cardiac and skeletal muscle. In cardiomyocytes, detyrosinated microtubules are required to resist to contractile compression during contraction: detyrosination promotes association with desmin (DES) at force-generating sarcomeres, leading to buckled microtubules and mechanical resistance to contraction (By similarity).;Acetylation of alpha chains at Lys-40 is located inside the microtubule lumen. This modification has been correlated with increased microtubule stability, intracellular transport and ciliary assembly.;Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).;Undergoes a tyrosination/detyrosination cycle, the cyclic removal and re-addition of a C-terminal tyrosine residue by the enzymes tubulin tyrosine carboxypeptidase (VASH1 or VASH2) and tubulin tyrosine ligase (TTL), respectively.;Nitration of Tyr-449 is irreversible and interferes with normal dynein intracellular distribution.;Methylation of alpha chains at Lys-40 is found in mitotic microtubules and is required for normal mitosis and cytokinesis contributing to genomic stability. Belongs to the tubulin family. Phagosome;Gap junction;Pathogenic Escherichia coli infection;Separation of Sister Chromatids;MHC class II antigen presentation;Intraflagellar transport;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Hedgehog 'off' state;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Post-chaperonin tubulin folding pathway;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 12 +NX_Q9BQE4 Selenoprotein S 189 21163 9.72 1 Endoplasmic reticulum;Cytoplasm;Endoplasmic reticulum membrane NA Involved in the degradation process of misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Probably acts by serving as a linker between DERL1, which mediates the retrotranslocation of misfolded proteins into the cytosol, and the ATPase complex VCP, which mediates the translocation and ubiquitination. NA Belongs to the selenoprotein S family. Protein processing in endoplasmic reticulum;E3 ubiquitin ligases ubiquitinate target proteins PE1 15 +NX_Q9BQE5 Apolipoprotein L2 337 37092 6.28 0 Cytoplasm NA May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles. NA Belongs to the apolipoprotein L family. NA PE1 22 +NX_Q9BQE6 LBH domain-containing protein 1 289 31565 4.52 0 NA NA NA NA NA NA PE1 11 +NX_Q9BQE9 B-cell CLL/lymphoma 7 protein family member B 202 22195 4.67 0 Nucleoplasm NA Positive regulator of apoptosis. Plays a role in the Wnt signaling pathway, negatively regulating the expression of Wnt signaling components CTNNB1 and HMGA1 (PubMed:25569233). Involved in cell cycle progression, maintenance of the nuclear structure and stem cell differentiation (PubMed:25569233). May play a role in lung tumor development or progression (By similarity). NA Belongs to the BCL7 family. NA PE1 7 +NX_Q9BQF6 Sentrin-specific protease 7 1050 119658 6.19 0 Nucleoplasm;Cytosol NA Protease that deconjugates SUMO2 and SUMO3 from targeted proteins, but not SUMO1. Catalyzes the deconjugation of poly-SUMO2 and poly-SUMO3 chains. Has very low efficiency in processing full-length SUMO proteins to their mature forms. NA Belongs to the peptidase C48 family. NA PE1 3 +NX_Q9BQG0 Myb-binding protein 1A 1328 148855 9.34 0 Cytoplasmic vesicle;Nucleus;Cytoplasm;Nucleolus NA May activate or repress transcription via interactions with sequence specific DNA-binding proteins (By similarity). Repression may be mediated at least in part by histone deacetylase activity (HDAC activity) (By similarity). Acts as a corepressor and in concert with CRY1, represses the transcription of the core circadian clock component PER2 (By similarity). Preferentially binds to dimethylated histone H3 'Lys-9' (H3K9me2) on the PER2 promoter (By similarity). Has a role in rRNA biogenesis together with PWP1 (PubMed:29065309). Citrullinated by PADI4. Belongs to the MYBBP1A family. B-WICH complex positively regulates rRNA expression PE1 17 +NX_Q9BQG1 Synaptotagmin-3 590 63304 6.16 1 Secretory vesicle membrane;Cell membrane NA Ca(2+) sensor involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain. Ca(2+) induces binding of the C2-domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003). NA Belongs to the synaptotagmin family. NA PE1 19 +NX_Q9BQG2 Peroxisomal NADH pyrophosphatase NUDT12 462 52076 6.38 0 Peroxisome;Cytoplasm;Nucleus NA Hydrolyzes NAD(P)H to NMNH and AMP (2',5'-ADP), and diadenosine diphosphate to AMP. Has also activity towards NAD(P)(+), ADP-ribose and diadenosine triphosphate. May act to regulate the concentration of peroxisomal nicotinamide nucleotide cofactors required for oxidative metabolism in this organelle. NA Belongs to the Nudix hydrolase family. NudC subfamily. Nicotinate and nicotinamide metabolism;Peroxisome;Nicotinamide salvaging PE1 5 +NX_Q9BQI0 Allograft inflammatory factor 1-like 150 17068 6.63 0 Ruffle membrane;Cytoskeleton NA Actin-binding protein that promotes actin bundling. May neither bind calcium nor depend on calcium for function. NA NA NA PE1 9 +NX_Q9BQI3 Eukaryotic translation initiation factor 2-alpha kinase 1 630 71106 5.68 0 Cytoplasm;Nucleoplasm;Cytosol NA Inhibits protein synthesis at the translation initiation level, in response to various stress conditions, including oxidative stress, heme deficiency, osmotic shock and heat shock. Exerts its function through the phosphorylation of EIF2S1 at 'Ser-48' and 'Ser-51', thus preventing its recycling. Binds hemin forming a 1:1 complex through a cysteine thiolate and histidine nitrogenous coordination. This binding occurs with moderate affinity, allowing it to sense the heme concentration within the cell. Thanks to this unique heme-sensing capacity, plays a crucial role to shut off protein synthesis during acute heme-deficient conditions. In red blood cells (RBCs), controls hemoglobin synthesis ensuring a coordinated regulation of the synthesis of its heme and globin moieties. Thus plays an essential protective role for RBC survival in anemias of iron deficiency. Similarly, in hepatocytes, involved in heme-mediated translational control of CYP2B and CYP3A and possibly other hepatic P450 cytochromes. May also contain ER stress during acute heme-deficient conditions (By similarity). Activated by autophosphorylation; phosphorylated predominantly on serine and threonine residues, but also on tyrosine residues. Autophosphorylation at Thr-488 is required for kinase activation. The active autophosphorylated form apparently is largely refractory to cellular heme fluctuations (By similarity). Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. GCN2 subfamily. Protein processing in endoplasmic reticulum;Hepatitis C;Measles;Influenza A;Herpes simplex infection PE1 7 +NX_Q9BQI4 Coiled-coil domain-containing protein 3 270 30731 8.95 0 Endoplasmic reticulum;Nucleoplasm;Secreted;Cytosol NA Negatively regulates TNF-alpha-induced pro-inflammatory response in endothelial cells (ECs) via inhibition of TNF-alpha-induced NF-kappaB activation in ECs (PubMed:25193116). Positively regulates lipid accumulation in adipose cells (By similarity). NA NA NA PE1 10 +NX_Q9BQI5 SH3-containing GRB2-like protein 3-interacting protein 1 828 89109 8.39 0 Cytoplasm;Mitochondrion;Clathrin-coated pit NA May function in clathrin-mediated endocytosis. Has both a membrane binding/tubulating activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a preference for membranes enriched in phosphatidylserine and phosphoinositides and is required for the endocytosis of the transferrin receptor. May also bind tubulin. May play a role in the regulation of energy homeostasis. NA NA Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 1 +NX_Q9BQI6 SMC5-SMC6 complex localization factor protein 1 1058 121050 8.7 0 Nucleoplasm;Cytoplasm;Centrosome;Nucleus NA Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance (PubMed:25931565). The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication-coupled interstrand cross-links (ICL) and DNA double-strand breaks (DSBs) sites on chromatin during DNA repair in response to stalled replication forks (PubMed:25931565). Promotes the recruitment of SLF2 and the SMC5-SMC6 complex to DNA lesions (PubMed:25931565). NA NA NA PE1 5 +NX_Q9BQI7 PH and SEC7 domain-containing protein 2 771 84660 5.04 1 Ruffle membrane;Cleavage furrow;Cell membrane NA NA NA Belongs to the PSD family. Endocytosis PE1 5 +NX_Q9BQI9 Nuclear receptor-interacting protein 2 281 31331 8.75 0 Nucleoplasm;Cytosol;Nucleus NA Down-regulates transcriptional activation by nuclear receptors such as NR1F2. NA NA NA PE1 12 +NX_Q9BQJ4 Transmembrane protein 47 181 19998 6.26 4 Membrane;Adherens junction;Nucleus membrane;Cell membrane NA Regulates cell junction organization in epithelial cells. May play a role in the transition from adherens junction to tight junction assembly. May regulate F-actin polymerization required for tight junctional localization dynamics and affect the junctional localization of PARD6B. During podocyte differentiation may negatively regulate activity of FYN and subsequently the abundance of nephrin (By similarity). NA Belongs to the TMEM47 family. NA PE1 X +NX_Q9BQK8 Phosphatidate phosphatase LPIN3 851 93614 5.35 0 Cytosol;Nucleus NA Regulates fatty acid metabolism. Magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis (By similarity). NA Belongs to the lipin family. Synthesis of PC;Synthesis of PE;Triglyceride biosynthesis;Depolymerisation of the Nuclear Lamina PE1 20 +NX_Q9BQL6 Fermitin family homolog 1 677 77437 5.91 0 Ruffle membrane;Focal adhesion;Cytoskeleton Kindler syndrome Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression. NA Belongs to the kindlin family. NA PE1 20 +NX_Q9BQM9 Uncharacterized protein C20orf144 153 17214 11.47 0 NA NA NA NA NA NA PE1 20 +NX_Q9BQN1 Protein FAM83C 747 81078 8.28 0 NA NA May play a role in MAPK signaling. NA Belongs to the FAM83 family. NA PE1 20 +NX_Q9BQP7 Mitochondrial genome maintenance exonuclease 1 344 39421 7.58 0 Mitochondrion Mitochondrial DNA depletion syndrome 11 Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5'-3' exonuclease activity but is also capable of endoduclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA-primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair. Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells. NA Belongs to the MGME1 family. NA PE1 20 +NX_Q9BQP9 BPI fold-containing family A member 3 254 28436 6.17 0 Secreted NA NA NA Belongs to the BPI/LBP/Plunc superfamily. Plunc family. NA PE1 20 +NX_Q9BQQ3 Golgi reassembly-stacking protein 1 440 46482 4.42 0 Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment membrane;cis-Golgi network membrane NA Plays an important role in assembly and membrane stacking of the Golgi cisternae, and in the reassembly of Golgi stacks after breakdown during mitosis (PubMed:26363069). Key structural protein required for the maintenance of the Golgi apparatus integrity: its caspase-mediated cleavage is required for fragmentation of the Golgi during apoptosis (By similarity). Also mediates, via its interaction with GOLGA2/GM130, the docking of transport vesicles with the Golgi membranes (PubMed:16489344). Mediates ER stress-induced unconventional (ER/Golgi-independent) trafficking of core-glycosylated CFTR to cell membrane (PubMed:21884936). Phosphorylated by CDC2/B1 and PLK kinases during mitosis. Phosphorylation cycle correlates with the cisternal stacking cycle. Phosphorylation of the homodimer prevents the association of dimers into higher-order oligomers, leading to cisternal unstacking.;Myristoylated.;Target for caspase-3 cleavage during apoptosis. The cleavage contributes to Golgi fragmentation and occurs very early in the execution phase of apoptosis. Belongs to the GORASP family. Golgi Cisternae Pericentriolar Stack Reorganization;COPII-mediated vesicle transport;COPI-mediated anterograde transport PE1 3 +NX_Q9BQQ7 Receptor-transporting protein 3 232 27031 8.97 1 Membrane;Mitochondrion NA Promotes functional cell surface expression of the bitter taste receptors TAS2R16 and TAS2R43. NA Belongs to the TMEM7 family. Olfactory Signaling Pathway PE1 3 +NX_Q9BQR3 Serine protease 27 290 31940 8.47 0 Cytoplasmic vesicle;Secreted NA NA N-glycosylated. Belongs to the peptidase S1 family. NA PE1 16 +NX_Q9BQS2 Synaptotagmin-15 421 47375 7.12 1 Golgi apparatus;Cell membrane NA May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. NA Belongs to the synaptotagmin family. NA PE1 10 +NX_Q9BQS6 Heat shock protein beta-9 159 17486 9.16 0 Cytoplasm;Nucleus NA NA NA Belongs to the small heat shock protein (HSP20) family. NA PE1 17 +NX_Q9BQS7 Hephaestin 1158 130449 5.61 1 Membrane;Nucleoplasm;Nucleus NA May function as a ferroxidase for ferrous (II) to ferric ion (III) conversion and may be involved in copper transport and homeostasis. Implicated in iron homeostasis and may mediate iron efflux associated to ferroportin 1. NA Belongs to the multicopper oxidase family. Mineral absorption;Iron uptake and transport;Metal ion SLC transporters;Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) PE1 X +NX_Q9BQS8 FYVE and coiled-coil domain-containing protein 1 1478 166983 4.86 0 Cytoplasmic vesicle;Endosome;Autophagosome;Lysosome Cataract 18 May mediate microtubule plus end-directed vesicle transport. NA NA NA PE1 3 +NX_Q9BQT8 Mitochondrial 2-oxodicarboxylate carrier 299 33303 9.53 6 Mitochondrion inner membrane NA Transports C5-C7 oxodicarboxylates across the inner membranes of mitochondria. Can transport 2-oxoadipate, 2-oxoglutarate, adipate, glutarate, and to a lesser extent, pimelate, 2-oxopimelate, 2-aminoadipate, oxaloacetate, and citrate. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Lysine catabolism PE1 14 +NX_Q9BQT9 Calsyntenin-3 956 106098 5.24 1 Endoplasmic reticulum membrane;Cell membrane;Postsynapse;Golgi apparatus membrane;Dendrite NA May modulate calcium-mediated postsynaptic signals. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation. Proteolytically processed under normal cellular conditions. A primary zeta-cleavage generates a large extracellular (soluble) N-terminal domain (sAlc) and a short C-terminal transmembrane fragment (CTF1). A secondary cleavage catalyzed by gamma-secretase within the transmembrane domain releases the beta-Alc-beta chain in the extracellular milieu and produces an intracellular fragment (AlcICD). This processing is strongly suppressed in the tripartite complex formed with APBA2 and APP, which seems to prevent the association with gamma-secretase (By similarity). NA NA PE1 12 +NX_Q9BQW3 Transcription factor COE4 602 64473 8.9 0 Nucleus NA Transcriptional factor which recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'. NA Belongs to the COE family. NA PE1 20 +NX_Q9BQY4 Rhox homeobox family member 2 288 31692 4.53 0 Nucleus NA Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis. NA Belongs to the paired-like homeobox family. PEPP subfamily. NA PE1 X +NX_Q9BQY6 WAP four-disulfide core domain protein 6 131 14626 8.64 0 Secreted NA NA NA NA NA PE2 20 +NX_Q9BQY9 Dysbindin domain-containing protein 2 259 27671 4.45 0 Nucleoplasm;Cytoplasm;Cytosol NA May modulate the activity of casein kinase-1. Inhibits CSNK1D autophosphorylation (in vitro). NA Belongs to the dysbindin family. NA PE1 20 +NX_Q9BR01 Sulfotransferase 4A1 284 33085 5.42 0 Cytoplasm NA Atypical sulfotransferase family member with very low affinity for 3'-phospho-5'-adenylyl sulfate (PAPS) and very low catalytic activity towards L-triiodothyronine, thyroxine, estrone, p-nitrophenol, 2-naphthylamine, and 2-beta-naphthol. May have a role in the metabolism of drugs and neurotransmitters in the CNS. NA Belongs to the sulfotransferase 1 family. Cytosolic sulfonation of small molecules PE1 22 +NX_Q9BR09 Neuralized-like protein 2 285 31690 7.76 0 Cytoplasm;Cytoplasmic vesicle NA Plays an important role in the process of myofiber differentiation and maturation. Probable substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of proteins. Probably contributes to catalysis through recognition and positioning of the substrate and the ubiquitin-conjugating enzyme. During myogenesis, controls the ubiquitination and degradation of the specific pool of CTNNB1/beta-catenin located at the sarcolemma (By similarity). NA NA Protein modification; protein ubiquitination.;Neddylation PE2 20 +NX_Q9BR10 Spermatogenesis-associated protein 25 227 23834 8.59 1 Membrane;Golgi apparatus NA May play a role in spermatogenesis. NA Belongs to the SPATA25 family. NA PE1 20 +NX_Q9BR11 Zinc finger SWIM domain-containing protein 1 485 55071 7.05 0 Cytosol;Cell membrane NA NA NA NA NA PE1 20 +NX_Q9BR26 Osteoclast stimulatory transmembrane protein 566 61579 8.88 6 Membrane NA Probable cell surface receptor that plays a role in cellular fusion and cell differentiation. Cooperates with DCSTAMP in modulating cell-cell fusion in both osteoclasts and foreign body giant cells (FBGCs). Involved in osteoclast bone resorption. Promotes osteoclast differentiation and may play a role in the multinucleated osteoclast maturation (By similarity). NA NA NA PE2 20 +NX_Q9BR39 Junctophilin-2 696 74222 8.82 1 Sarcoplasmic reticulum membrane;Endoplasmic reticulum membrane;Nucleus;Cell membrane Cardiomyopathy, familial hypertrophic 17 Junctophilin-2 N-terminal fragment: Transcription repressor required to safeguard against the deleterious effects of cardiac stress. Generated following cleavage of the Junctophilin-2 chain by calpain in response to cardiac stress in cardiomyocytes. Following cleavage and release from the membrane, translocates to the nucleus, binds DNA and represses expression of genes implicated in cell growth and differentiation, hypertrophy, inflammation and fibrosis. Modifies the transcription profile and thereby attenuates pathological remodeling in response to cardiac stress. Probably acts by competing with MEF2 transcription factors and TATA-binding proteins.;Junctophilin-2: Membrane-binding protein that provides a structural bridge between the plasma membrane and the sarcoplasmic reticulum and is required for normal excitation-contraction coupling in cardiomyocytes (PubMed:20095964). Provides a structural foundation for functional cross-talk between the cell surface and intracellular Ca(2+) release channels by maintaining the 12-15 nm gap between the sarcolemma and the sarcoplasmic reticulum membranes in the cardiac dyads (By similarity). Necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release (By similarity). Contributes to the construction of skeletal muscle triad junctions (By similarity). Phosphorylation on Ser-165, probably by PKC, affects RYR1-mediated calcium ion release, interaction with TRPC3, and skeletal muscle myotubule development.;Proteolytically cleaved by calpain in response to cardiac stress. The major cleavage site takes place at the C-terminus and leads to the release of the Junctophilin-2 N-terminal fragment chain (JP2NT). Belongs to the junctophilin family. NA PE1 20 +NX_Q9BR46 Putative uncharacterized protein C20orf78 151 17183 8.93 0 NA NA NA NA NA NA PE4 20 +NX_Q9BR61 Acyl-CoA-binding domain-containing protein 6 282 31151 5 0 Cytoplasm;Nucleoplasm;Cytosol NA Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0-CoA. Does not bind fatty acids. NA NA Mitochondrial Fatty Acid Beta-Oxidation PE1 1 +NX_Q9BR76 Coronin-1B 489 54235 5.6 0 Cytosol;Stress fiber;Cell membrane;Cytoskeleton NA Regulates leading edge dynamics and cell motility in fibroblasts. May be involved in cytokinesis and signal transduction (By similarity). Phosphorylation by PKC on Ser-2 regulates the interaction with the Arp2/3 complex and cell motility in fibroblasts. Phosphorylation does not seem to affect subcellular location. Belongs to the WD repeat coronin family. NA PE1 11 +NX_Q9BR77 Coiled-coil domain-containing protein 77 488 57486 8.91 0 Nucleus membrane NA NA NA NA NA PE1 12 +NX_Q9BR84 Zinc finger protein 559 538 62318 8.9 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9BRA0 N-alpha-acetyltransferase 38, NatC auxiliary subunit 125 13514 5.37 0 Nucleoplasm;Cytoplasm;Nucleus NA Auxillary component of the N-terminal acetyltransferase C (NatC) complex which catalyzes acetylation of N-terminal methionine residues. NA Belongs to the snRNP Sm proteins family. Retrograde transport at the Trans-Golgi-Network PE1 17 +NX_Q9BRA2 Thioredoxin domain-containing protein 17 123 13941 5.4 0 Cytoplasm NA Disulfide reductase. May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions. Modulates TNF-alpha signaling and NF-kappa-B activation. Has peroxidase activity and may contribute to the elimination of cellular hydrogen peroxide. The oxidized protein is reduced by TRXR1. Belongs to the thioredoxin family. NA PE1 17 +NX_Q9BRB3 Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q 760 84082 8.37 5 Membrane;Golgi apparatus;Nucleoplasm;Cytoplasmic vesicle NA Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis. NA Belongs to the PIGQ family. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Synthesis of glycosylphosphatidylinositol (GPI) PE1 16 +NX_Q9BRC7 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 762 87585 5.08 0 Cytoplasm;Cell membrane;Nucleus membrane;Membrane;Endoplasmic reticulum;Cytosol;Nucleus NA Hydrolyzes the phosphatidylinositol 4,5-bisphosphate (PIP2) to generate 2 second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). DAG mediates the activation of protein kinase C (PKC), while IP3 releases Ca(2+) from intracellular stores. Required for acrosome reaction in sperm during fertilization, probably by acting as an important enzyme for intracellular Ca(2+) mobilization in the zona pellucida-induced acrosome reaction. May play a role in cell growth. Modulates the liver regeneration in cooperation with nuclear PKC. Overexpression up-regulates the Erk signaling pathway and proliferation. NA NA Inositol phosphate metabolism;Metabolic pathways;Calcium signaling pathway;Phosphatidylinositol signaling system;Synthesis of IP3 and IP4 in the cytosol PE1 2 +NX_Q9BRD0 BUD13 homolog 619 70521 9.86 0 Nucleoplasm;Nucleus NA Involved in pre-mRNA splicing as component of the activated spliceosome. NA Belongs to the CWC26 family. NA PE1 11 +NX_Q9BRF8 Serine/threonine-protein phosphatase CPPED1 314 35548 5.79 0 Cytoplasm;Cytosol;Cell membrane NA Protein phosphatase that dephosphorylates AKT family kinase specifically at 'Ser-473', blocking cell cycle progression and promoting cell apoptosis. May play an inhibitory role in glucose uptake by adipocytes. NA Belongs to the metallophosphoesterase superfamily. CPPED1 family. Neutrophil degranulation PE1 16 +NX_Q9BRG1 Vacuolar protein-sorting-associated protein 25 176 20748 5.97 0 Nucleoplasm;Cytoplasm;Centrosome;Endosome membrane NA Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation, possibly via its interaction with ELL. The ESCRT-II complex may be involved in facilitating the budding of certain RNA viruses. NA Belongs to the VPS25 family. Endocytosis;Endosomal Sorting Complex Required For Transport (ESCRT) PE1 17 +NX_Q9BRG2 SH2 domain-containing protein 3A 576 63093 7.03 0 Nucleoplasm;Cytoskeleton NA May play a role in JNK activation. Phosphorylated on tyrosine. NA NA PE1 19 +NX_Q9BRH9 Zinc finger protein 251 671 75763 9.36 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 8 +NX_Q9BRI3 Zinc transporter 2 323 35178 5.7 5 Vacuole membrane;Cytoplasmic vesicle;Lysosome membrane Zinc deficiency, transient neonatal NA NA Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. Zinc efflux and compartmentalization by the SLC30 family PE1 1 +NX_Q9BRJ2 39S ribosomal protein L45, mitochondrial 306 35351 9.14 0 Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mL45 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 17 +NX_Q9BRJ6 Uncharacterized protein C7orf50 194 22083 9.65 0 Nucleoplasm;Nucleus;Nucleolus NA NA NA NA NA PE1 7 +NX_Q9BRJ7 Tudor-interacting repair regulator protein 211 23338 9.07 0 Cytosol;Nucleus;Cell membrane NA Key regulator of TP53BP1 required to stabilize TP53BP1 and regulate its recruitment to chromatin (PubMed:28241136). In absence of DNA damage, interacts with the tandem Tudor-like domain of TP53BP1, masking the region that binds histone H4 dimethylated at 'Lys-20' (H4K20me2), thereby preventing TP53BP1 recruitment to chromatin and maintaining TP53BP1 localization to the nucleus (PubMed:28241136). Following DNA damage, ATM-induced phosphorylation of TP53BP1 and subsequent recruitment of RIF1 leads to dissociate NUDT16L1/TIRR from TP53BP1, unmasking the tandem Tudor-like domain and allowing recruitment of TP53BP1 to DNA double strand breaks (DSBs) (PubMed:28241136). Binds U8 snoRNA (PubMed:18820299). NA Belongs to the Nudix hydrolase family. TIRR subfamily. NA PE1 16 +NX_Q9BRJ9 Mesoderm posterior protein 1 268 28501 9.26 0 Nucleoplasm;Nucleolus;Nucleus NA Transcription factor. Plays a role in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm. Defines the rostrocaudal patterning of the somites by participating in distinct Notch pathways (By similarity). NA NA NA PE2 15 +NX_Q9BRK0 Receptor expression-enhancing protein 2 252 28261 9.54 2 Membrane Spastic paraplegia 72 Required for endoplasmic reticulum (ER) network formation, shaping and remodeling. May enhance the cell surface expression of odorant receptors (By similarity). NA Belongs to the DP1 family. Olfactory Signaling Pathway PE1 5 +NX_Q9BRK3 Matrix remodeling-associated protein 8 442 49132 6.75 1 Cytoplasm;Cell membrane;Nucleolus;Tight junction;Cilium membrane;Nucleus NA (Microbial infection) Contributes to arthritogenic alphavirus pathogenesis and acts as a receptor for these viruses.;Transmembrane protein which can modulate activity of various signaling pathways, probably via binding to integrin ITGAV:ITGB3 (PubMed:22492581, PubMed:23386276). Mediates heterophilic cell-cell interactions in vitro (By similarity). Inhibits osteoclastogenesis downstream of TNFSF11/RANKL and CSF1, where it may function by attenuating signaling via integrin ITGB3 and MAP kinase p38 (By similarity). Plays a role in cartilage formation where it promotes proliferation and maturation of growth plate chondrocytes (By similarity). Stimulates formation of primary cilia in chondrocytes (By similarity). Enhances expression of genes involved in the hedgehog signaling pathway in chondrocytes, including the hedgehog signaling molecule IHH; may also promote signaling via the PTHLH/PTHrP pathway (By similarity). Plays a role in angiogenesis where it suppresses migration of endothelial cells and also promotes their apoptosis (PubMed:23386276). Inhibits VEGF-induced activation of AKT and p38 MAP kinase in endothelial cells (PubMed:23386276). Also inhibits VTN (vitronectin)-mediated integrin ITGAV:ITGB3 signaling and activation of PTK2/FAK (PubMed:23386276). May play a role in the maturation and maintenance of the blood-brain barrier (By similarity). NA NA Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 1 +NX_Q9BRK4 Leucine zipper putative tumor suppressor 2 669 72759 6.13 0 Cytoplasm;Cytosol;Centrosome;Cell membrane NA Negative regulator of katanin-mediated microtubule severing and release from the centrosome. Required for central spindle formation and the completion of cytokinesis. May negatively regulate axonal outgrowth by preventing the formation of microtubule bundles that are necessary for transport within the elongating axon. Negative regulator of the Wnt signaling pathway. Represses beta-catenin-mediated transcriptional activation by promoting the nuclear exclusion of beta-catenin. NA Belongs to the LZTS2 family. NA PE1 10 +NX_Q9BRK5 45 kDa calcium-binding protein 362 41807 4.76 0 Golgi apparatus lumen;Golgi apparatus;Cytoplasm;Cell membrane;Bleb NA May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment.;May be involved in the exocytosis of zymogens by pancreatic acini. NA Belongs to the CREC family. NA PE1 1 +NX_Q9BRL6 Serine/arginine-rich splicing factor 8 282 32288 11.72 0 Nucleus NA Involved in pre-mRNA alternative splicing. NA Belongs to the splicing factor SR family. Spliceosome;Herpes simplex infection PE1 11 +NX_Q9BRL7 Vesicle-trafficking protein SEC22c 303 34269 5.91 4 Golgi apparatus;Nucleoplasm;Endoplasmic reticulum membrane NA May be involved in vesicle transport between the ER and the Golgi complex. NA Belongs to the synaptobrevin family. COPII-mediated vesicle transport PE1 3 +NX_Q9BRN9 TM2 domain-containing protein 3 247 27118 8.43 2 Membrane;Nucleoplasm;Cytosol NA NA NA Belongs to the TM2 family. NA PE1 15 +NX_Q9BRP0 Transcription factor Ovo-like 2 275 30438 9.02 0 Nucleoplasm;Cytosol;Nucleus Corneal dystrophy, posterior polymorphous, 1 Zinc-finger transcription repressor factor (PubMed:19700410). Plays a critical role in maintaining the identity of epithelial lineages by suppressing epithelial-to mesenchymal transition (EMT) mainly through the repression of ZEB1, an EMT inducer (By similarity). Positively regulates neuronal differentiation (By similarity). Suppresses cell cycling and terminal differentiation of keratinocytes by directly repressing MYC and NOTCH1 (PubMed:19700410). Important for the correct development of primordial germ cells in embryos (By similarity). NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 20 +NX_Q9BRP1 Programmed cell death protein 2-like 358 39417 4.71 0 Mitochondrion NA Over-expression suppresses AP1, CREB, NFAT, and NF-kB transcriptional activation, and delays cell cycle progression at S phase. NA NA NA PE1 19 +NX_Q9BRP4 Proteasomal ATPase-associated factor 1 392 42190 5.92 0 Nucleoplasm;Cytosol NA Inhibits proteasome 26S assembly and proteolytic activity by impairing the association of the 19S regulatory complex with the 20S core. In case of HIV-1 infection, recruited by viral Tat to the HIV-1 promoter, where it promotes the recruitment of 19S regulatory complex through dissociation of the proteasome 26S. This presumably promotes provirus transcription efficiency. Protects SUPT6H from proteasomal degradation. NA Belongs to the WD repeat PAAF1/RPN14 family. NA PE1 11 +NX_Q9BRP7 Ferredoxin-fold anticodon-binding domain-containing protein 1 624 70416 6.29 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 11 +NX_Q9BRP8 Partner of Y14 and mago 204 22656 9.45 0 Cytoplasm;Cell junction;Nucleolus;Nucleoplasm;Cytosol NA Key regulator of the exon junction complex (EJC), a multiprotein complex that associates immediately upstream of the exon-exon junction on mRNAs and serves as a positional landmark for the intron exon structure of genes and directs post-transcriptional processes in the cytoplasm such as mRNA export, nonsense-mediated mRNA decay (NMD) or translation. Acts as an EJC disassembly factor, allowing translation-dependent EJC removal and recycling by disrupting mature EJC from spliced mRNAs. Its association with the 40S ribosomal subunit probably prevents a translation-independent disassembly of the EJC from spliced mRNAs, by restricting its activity to mRNAs that have been translated. Interferes with NMD and enhances translation of spliced mRNAs, probably by antagonizing EJC functions. May bind RNA; the relevance of RNA-binding remains unclear in vivo, RNA-binding was detected by PubMed:14968132, while PubMed:19410547 did not detect RNA-binding activity independently of the EJC. NA Belongs to the pym family. RNA transport;mRNA surveillance pathway PE1 12 +NX_Q9BRP9 Putative uncharacterized protein MGC13053 147 15625 9.02 0 NA NA NA NA NA NA PE5 11 +NX_Q9BRQ0 Pygopus homolog 2 406 41244 6.89 0 Nucleoplasm;Nucleus NA Involved in signal transduction through the Wnt pathway. NA NA Formation of the beta-catenin:TCF transactivating complex;Deactivation of the beta-catenin transactivating complex PE1 1 +NX_Q9BRQ3 Uridine diphosphate glucose pyrophosphatase NUDT22 303 32580 4.99 0 Nucleoplasm NA Hydrolyzes UDP-glucose to glucose 1-phosphate and UMP and UDP-galactose to galactose 1-phosphate and UMP. Preferred substrate is UDP-glucose. NA Belongs to the Nudix hydrolase family. NA PE1 11 +NX_Q9BRQ4 Cilia- and flagella-associated protein 300 267 30859 6.39 0 Cytoplasm;Centrosome;Cilium axoneme Ciliary dyskinesia, primary, 38 Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. May play a role in outer and inner dynein arm assembly. NA Belongs to the CFAP300 family. NA PE1 11 +NX_Q9BRQ5 Protein orai-3 295 31499 7.21 4 Membrane;Nucleoplasm;Cytosol NA Key regulator or component of store-operated Ca(2+) channel and transcription factor NFAT nuclear import. NA Belongs to the Orai family. NA PE1 16 +NX_Q9BRQ6 MICOS complex subunit MIC25 235 26458 9.01 0 Cytoplasm;Mitochondrion inner membrane;Mitochondrion;Nucleus NA Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. NA Belongs to the MICOS complex subunit Mic19 family. Metazoan Mic25 subfamily. Cristae formation PE1 3 +NX_Q9BRQ8 Apoptosis-inducing factor 2 373 40527 9.16 1 Mitochondrion outer membrane;Cytoplasm;Cell membrane;Membrane;Cytoplasmic vesicle;Cytosol NA Oxidoreductase, which may play a role in mediating a p53/TP53-dependent apoptosis response. Probable oxidoreductase that acts as a caspase-independent mitochondrial effector of apoptotic cell death. Binds to DNA in a sequence-independent manner. May contribute to genotoxin-induced growth arrest. NA Belongs to the FAD-dependent oxidoreductase family. TP53 Regulates Transcription of Genes Involved in Cytochrome C Release PE1 10 +NX_Q9BRR0 Zinc finger protein with KRAB and SCAN domains 3 538 60641 5.98 0 Cytoplasm;Nucleus NA Transcriptional factor that binds to the consensus sequence 5'-[GT][AG][AGT]GGGG-3' and acts as a repressor of autophagy. Specifically represses expression of genes involved in autophagy and lysosome biogenesis/function such as MAP1LC3B, ULK1 or WIPI2. Associates with chromatin at the ITGB4 and VEGF promoters. Also acts as a transcription activator and promotes cancer cell progression and/or migration in various tumors and myelomas. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 6 +NX_Q9BRR3 Transmembrane protein 246 403 46588 7.27 3 Membrane;Mitochondrion NA NA NA Belongs to the TMEM246 family. NA PE1 9 +NX_Q9BRR6 ADP-dependent glucokinase 497 54089 5.77 0 Cytoplasm;Centrosome;Secreted;Nucleus NA Catalyzes the phosphorylation of D-glucose to D-glucose 6-phosphate using ADP as the phosphate donor. GDP and CDP can replace ADP, but with reduced efficiency (By similarity). NA Belongs to the ADP-dependent glucokinase family. Carbohydrate degradation; glycolysis.;Glycolysis / Gluconeogenesis;Metabolic pathways;Glycolysis PE1 15 +NX_Q9BRR8 G patch domain-containing protein 1 931 103345 6.59 0 Nucleoplasm;Cell junction;Cell membrane NA NA NA Belongs to the GPATCH1 family. NA PE1 19 +NX_Q9BRR9 Rho GTPase-activating protein 9 750 83260 8.65 0 NA NA GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has a substantial GAP activity toward CDC42 and RAC1 and less toward RHOA. Has a role in regulating adhesion of hematopoietic cells to the extracellular matrix. Binds phosphoinositides, and has the highest affinity for phosphatidylinositol 3,4,5-trisphosphate, followed by phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 4,5-bisphosphate. NA NA Rho GTPase cycle;Neutrophil degranulation PE1 12 +NX_Q9BRS2 Serine/threonine-protein kinase RIO1 568 65583 5.84 0 Cytosol;Nucleus speckle;Nucleolus NA Involved in the final steps of cytoplasmic maturation of the 40S ribosomal subunit. Involved in processing of 18S-E pre-rRNA to the mature 18S rRNA. Required for the recycling of NOB1 and PNO1 from the late 40S precursor (PubMed:22072790). The association with the very late 40S subunit intermediate may involve a translation-like checkpoint point cycle preceeding the binding to the 60S ribosomal subunit (By similarity). Despite the protein kinase domain is proposed to act predominantly as an ATPase (By similarity). The catalytic activity regulates its dynamic association with the 40S subunit (By similarity). In addition to its role in ribosomal biogenesis acts as an adapter protein by recruiting NCL/nucleolin the to PRMT5 complex for its symmetrical methylation (PubMed:21081503). NA Belongs to the protein kinase superfamily. RIO-type Ser/Thr kinase family. Ribosome biogenesis in eukaryotes;Major pathway of rRNA processing in the nucleolus and cytosol PE1 6 +NX_Q9BRS8 La-related protein 6 491 54737 8.4 0 Cytoplasm;Nucleus;Cytoskeleton NA Regulates the coordinated translation of type I collagen alpha-1 and alpha-2 mRNAs, CO1A1 and CO1A2. Stabilizes mRNAs through high-affinity binding of a stem-loop structure in their 5' UTR. This regulation requires VIM and MYH10 filaments, and the helicase DHX9. NA NA NA PE1 15 +NX_Q9BRT2 Ubiquinol-cytochrome-c reductase complex assembly factor 2 126 14875 6.84 0 Mitochondrion;Mitochondrion matrix;Mitochondrion intermembrane space;Mitochondrion nucleoid;Mitochondrion inner membrane;Nucleus Mitochondrial complex III deficiency, nuclear 7 Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Plays a role in the modulation of respiratory chain activities such as oxygen consumption and ATP production and via its modulation of the respiratory chain activity can regulate skeletal muscle differentiation and insulin secretion by pancreatic beta-cells. Involved in cytochrome b translation and/or stability. NA NA NA PE1 6 +NX_Q9BRT3 Migration and invasion enhancer 1 115 12403 4.4 0 Cytosol;Cell membrane NA Increases cell migration by inducing filopodia formation at the leading edge of migrating cells. Plays a role in regulation of apoptosis, possibly through control of CASP3. May be involved in a redox-related process. Isoprenylation facilitates association with the plasma membrane and enhances the migratory phenotype of cells by inducing increased filopodia formation. Belongs to the SelWTH family. NA PE1 17 +NX_Q9BRT6 Protein LLP homolog 129 15225 10.38 0 Nucleolus;Chromosome NA In hippocampal neurons, regulates dendritic and spine growth and synaptic transmission. NA Belongs to the learning-associated protein family. NA PE1 12 +NX_Q9BRT8 COBW domain-containing protein 1 395 44068 4.76 0 NA NA NA NA Belongs to the SIMIBI class G3E GTPase family. CobW subfamily. NA PE1 9 +NX_Q9BRT9 DNA replication complex GINS protein SLD5 223 26047 4.94 0 Cytoplasm;Nucleoplasm;Centrosome;Nucleus NA The GINS complex plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS4 is important for GINS complex assembly. GINS complex seems to bind preferentially to single-stranded DNA. NA Belongs to the GINS4/SLD5 family. Unwinding of DNA PE1 8 +NX_Q9BRU2 Transcription elongation factor A protein-like 7 100 12324 8.46 0 Nucleoplasm;Nucleus NA Plays a role in the negative regulation of NF-kappa-B signaling at the basal level by modulating transcriptional activity of NF-kappa-B on its target gene promoters. Associates with cyclin D1 promoter containing Myc E-box sequence and transcriptionally represses cyclin D1 expression. Regulates telomerase reverse transcriptase expression and telomerase activity in both ALT (alternative lengthening of telomeres)and telomerase-positive cell lines. NA Belongs to the TFS-II family. TFA subfamily. NA PE1 X +NX_Q9BRU9 rRNA-processing protein UTP23 homolog 249 28402 10.08 0 Nucleolus NA Involved in rRNA-processing and ribosome biogenesis. NA Belongs to the UTP23/FCF1 family. UTP23 subfamily. NA PE1 8 +NX_Q9BRV3 Sugar transporter SWEET1 221 25030 8.8 7 Cell membrane;Golgi apparatus membrane NA Mediates sugar transport across membranes. May stimulate V(D)J recombination by the activation of RAG1. NA Belongs to the SWEET sugar transporter family. Cellular hexose transport PE1 1 +NX_Q9BRV8 Suppressor of IKBKE 1 207 23721 5.09 0 Cytoplasm;Focal adhesion;Cytoplasmic vesicle NA Physiological suppressor of IKK-epsilon and TBK1 that plays an inhibitory role in virus- and TLR3-triggered IRF3. Inhibits TLR3-mediated activation of interferon-stimulated response elements (ISRE) and the IFN-beta promoter. May act by disrupting the interactions of IKBKE or TBK1 with TICAM1/TRIF, IRF3 and DDX58/RIG-I. Does not inhibit NF-kappa-B activation pathways. NA Belongs to the SIKE family. RIG-I-like receptor signaling pathway;TRAF6 mediated IRF7 activation;TRAF3-dependent IRF activation pathway PE1 1 +NX_Q9BRX2 Protein pelota homolog 385 43359 5.93 0 Cytoplasm;Nucleolus;Nucleus NA Required for normal chromosome segregation during cell division and genomic stability (By similarity). May function in recognizing stalled ribosomes and triggering endonucleolytic cleavage of the mRNA, a mechanism to release non-functional ribosomes and degrade damaged mRNAs. May have ribonuclease activity (Potential). NA Belongs to the eukaryotic release factor 1 family. Pelota subfamily. mRNA surveillance pathway PE1 5 +NX_Q9BRX5 DNA replication complex GINS protein PSF3 216 24535 5.21 0 Nucleoplasm;Nucleus NA The GINS complex plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex seems to bind preferentially to single-stranded DNA. NA Belongs to the GINS3/PSF3 family. Unwinding of DNA PE1 16 +NX_Q9BRX8 Peroxiredoxin-like 2A 229 25764 8.92 0 Cytoplasm;Secreted NA Involved in redox regulation of the cell (PubMed:26438880, PubMed:19951071). Acts as an antioxidant (PubMed:19951071, PubMed:26438880). Inhibits TNFSF11-induced NFKB1 and JUN activation and osteoclast differentiation (PubMed:19951071). May affect bone resorption and help to maintain bone mass (PubMed:19951071). Acts as a negative regulator of macrophage-mediated inflammation by inhibiting macrophage production of inflammatory cytokines, probably through suppression of the MAPK signaling pathway (PubMed:26438880). NA Belongs to the peroxiredoxin-like PRXL2 family. PRXL2A subfamily. NA PE1 10 +NX_Q9BRX9 WD repeat domain-containing protein 83 315 34343 5.36 0 Cytoplasm;Nucleoplasm;Centrosome;Cytoplasmic vesicle;Nucleus NA Molecular scaffold protein for various multimeric protein complexes. Acts as a module in the assembly of a multicomponent scaffold for the ERK pathway, linking ERK responses to specific agonists. At low concentrations it enhances ERK activation, whereas high concentrations lead to the inhibition of ERK activation. Also involved in response to hypoxia by acting as a negative regulator of HIF1A/HIF-1-alpha via its interaction with EGLN3/PHD3. May promote degradation of HIF1A. May act by recruiting signaling complexes to a specific upstream activator (By similarity). May also be involved in pre-mRNA splicing. NA Belongs to the WD repeat MORG1 family. MAP2K and MAPK activation PE1 19 +NX_Q9BRY0 Zinc transporter ZIP3 314 33601 6.39 8 Membrane;Cytoplasmic vesicle NA Acts as a zinc-influx transporter. NA Belongs to the ZIP transporter (TC 2.A.5) family. Zinc influx into cells by the SLC39 gene family PE1 19 +NX_Q9BRZ2 E3 ubiquitin-protein ligase TRIM56 755 81488 8.02 0 Cytoplasm;Nucleoplasm;Cytosol NA E3 ubiquitin-protein ligase that plays a key role in innate antiviral immunity (PubMed:21289118). In response to pathogen- and host-derived double-stranded DNA (dsDNA), targets TMEM173/STING to 'Lys-63'-linked ubiquitination, thereby promoting its homodimerization, a step required for the production of type I interferon IFN-beta (By similarity). Independently of its E3 ubiquitin ligase activity, positive regulator of TLR3 signaling. Potentiates extracellular double stranded RNA (dsRNA)-induced expression of IFNB1 and interferon-stimulated genes ISG15, IFIT1/ISG56, CXCL10, OASL and CCL5/RANTES. Promotes establishment of an antiviral state by TLR3 ligand and TLR3-mediated chemokine induction following infection by hepatitis C virus (PubMed:22948160). Autoubiquitinated. Belongs to the TRIM/RBCC family. Regulation of innate immune responses to cytosolic DNA PE1 7 +NX_Q9BS16 Centromere protein K 269 31655 4.83 0 Kinetochore;Centromere;Nucleus NA Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Acts in coordination with KNL1 to recruit the NDC80 complex to the outer kinetochore. NA Belongs to the CENP-K/MCM22 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Deposition of new CENPA-containing nucleosomes at the centromere;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 5 +NX_Q9BS18 Anaphase-promoting complex subunit 13 74 8521 4.04 0 Cytosol;Mitochondrion;Nucleus NA Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. NA Belongs to the APC13 family. Protein modification; protein ubiquitination.;Cell cycle;Oocyte meiosis;Ubiquitin mediated proteolysis;Progesterone-mediated oocyte maturation;Antigen processing: Ubiquitination & Proteasome degradation PE1 3 +NX_Q9BS26 Endoplasmic reticulum resident protein 44 406 46971 5.09 0 Endoplasmic reticulum lumen NA Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif. Inhibits the calcium channel activity of ITPR1. May have a role in the control of oxidative protein folding in the endoplasmic reticulum. Required to retain ERO1A and ERO1B in the endoplasmic reticulum. NA NA Neutrophil degranulation PE1 9 +NX_Q9BS31 Zinc finger protein 649 505 57683 9.03 0 Nucleus NA Transcriptional repressor. Regulator of transcriptional factor complexes and may suppress SRE and AP-1 transcription activities mediated by growth factor signaling pathways. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9BS34 Zinc finger protein 670 389 44603 8.8 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 1 +NX_Q9BS40 Latexin 222 25750 5.54 0 Cytoplasm;Nucleoplasm;Cytosol NA Hardly reversible, non-competitive, and potent inhibitor of CPA1, CPA2 and CPA4. May play a role in inflammation. NA Belongs to the protease inhibitor I47 (latexin) family. NA PE1 3 +NX_Q9BS86 Zona pellucida-binding protein 1 351 40142 9.42 0 Acrosome membrane;Secreted NA Plays a role in acrosome compaction and sperm morphogenesis (PubMed:21911476). Is implicated in sperm-oocyte interaction during fertilization (By similarity). N-glycosylated. Belongs to the zona pellucida-binding protein Sp38 family. NA PE1 7 +NX_Q9BS91 Probable UDP-sugar transporter protein SLC35A5 424 48500 8.55 10 Membrane;Golgi apparatus NA NA NA Belongs to the nucleotide-sugar transporter family. SLC35A subfamily. NA PE1 3 +NX_Q9BS92 Protein NipSnap homolog 3B 247 28313 9.32 0 NA NA NA NA Belongs to the NipSnap family. NA PE1 9 +NX_Q9BSA4 Protein tweety homolog 2 534 58772 5.48 5 Cell membrane NA Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction. May be involved in cell proliferation and cell aggregation. NA Belongs to the tweety family. Stimuli-sensing channels PE1 17 +NX_Q9BSA9 Endosomal/lysosomal potassium channel TMEM175 504 55615 7.61 12 Nucleoplasm;Lysosome membrane;Nucleus membrane;Endosome membrane Parkinson disease Organelle-specific potassium channel specifically responsible for potassium conductance in endosomes and lysosomes. Forms a potassium-permeable leak-like channel, which regulates lumenal pH stability and is required for autophagosome-lysosome fusion. Constitutes the major lysosomal potassium channel. NA Belongs to the TMEM175 family. NA PE1 4 +NX_Q9BSB4 Autophagy-related protein 101 218 25003 5.81 0 Preautophagosomal structure;Cytoplasm NA Autophagy factor required for autophagosome formation. Stabilizes ATG13, protecting it from proteasomal degradation. NA Belongs to the ATG101 family. Macroautophagy PE1 12 +NX_Q9BSC4 Nucleolar protein 10 688 80302 8.64 0 Nucleolus NA NA NA Belongs to the WD repeat NOL10/ENP2 family. NA PE1 2 +NX_Q9BSD3 RAD9, HUS1, RAD1-interacting nuclear orphan protein 1 238 26709 9.69 0 Nucleus;Chromosome NA Plays a role in DNA damage response (DDR) signaling upon genotoxic stresses such as ionizing radiation (IR) during the S phase. Recruited to sites of DNA damage through interaction with the 9-1-1 cell-cycle checkpoint response complex and TOPBP1 in a ATR-dependent manner. Required for the progression of the G1 to S phase transition. Plays a role in the stimulation of CHEK1 phosphorylation. NA NA G2/M DNA damage checkpoint;HDR through Single Strand Annealing (SSA);Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Regulation of TP53 Activity through Phosphorylation PE1 12 +NX_Q9BSD7 Cancer-related nucleoside-triphosphatase 190 20713 9.61 0 Cytosol NA Has nucleotide phosphatase activity towards ATP, GTP, CTP, TTP and UTP. Hydrolyzes nucleoside diphosphates with lower efficiency. NA Belongs to the THEP1 NTPase family. Purine metabolism;Thiamine metabolism;Metabolic pathways PE1 1 +NX_Q9BSE2 Transmembrane protein 79 394 43520 4.87 5 Membrane;trans-Golgi network;Nucleolus;Lysosome NA Contributes to the epidermal integrity and skin barrier function. Plays a role in the lamellar granule (LG) secretory system and in the stratum corneum (SC) epithelial cell formation (By similarity). NA NA NA PE1 1 +NX_Q9BSE4 Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein 406 45147 4.93 1 Membrane;Nucleolus NA Could be involved in the unfolded protein response (UPR) pathway. NA NA NA PE1 7 +NX_Q9BSE5 Agmatinase, mitochondrial 352 37660 7.54 0 Mitochondrion NA NA NA Belongs to the arginase family. Agmatinase subfamily. Amine and polyamine biosynthesis; putrescine biosynthesis via agmatine pathway; putrescine from agmatine: step 1/1.;Arginine and proline metabolism;Metabolic pathways;Agmatine biosynthesis PE1 1 +NX_Q9BSF0 Small membrane A-kinase anchor protein 95 10970 4.84 0 Cell membrane NA Binds to type I regulatory subunits of protein kinase A (PKA-RI) and may anchor/target them to the plasma membrane. May be palmitoylated at Cys-3. Belongs to the small membrane AKAP family. NA PE1 2 +NX_Q9BSF4 Mitochondrial import inner membrane translocase subunit Tim29 260 29233 8.29 1 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion NA Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin-pore translocase that uses the membrane potential as the external driving force. Required for the stability of the TIM22 complex and functions in the assembly of the TIMM22 protein into the TIM22 complex. May facilitate cooperation between TIM22 and TOM complexes by interacting with TOMM40. NA NA NA PE1 19 +NX_Q9BSF8 BTB/POZ domain-containing protein 10 475 53779 7.65 0 Nucleoplasm;Nucleus;Cytoplasm;Nucleolus NA Plays a major role as an activator of AKT family members by inhibiting PPP2CA-mediated dephosphorylation, thereby keeping AKTs activated. Plays a role in preventing motor neuronal death and accelerating the growth of pancreatic beta cells. NA NA NA PE1 11 +NX_Q9BSG0 Protease-associated domain-containing protein 1 188 21042 5.23 0 Secreted NA NA N-glycosylated; required for efficient secretion. NA NA PE1 2 +NX_Q9BSG1 Zinc finger protein 2 425 48707 8.86 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 2 +NX_Q9BSG5 Retbindin 229 24615 8.59 0 Endoplasmic reticulum;Interphotoreceptor matrix;Cell membrane NA Riboflavin-binding protein which might have a role in retinal flavin transport. Not N-glycosylated. Belongs to the folate receptor family. NA PE1 19 +NX_Q9BSH3 Nicolin-1 213 24202 6.59 0 Nucleoplasm;Nucleus NA NA NA NA Carboxyterminal post-translational modifications of tubulin PE1 3 +NX_Q9BSH4 Translational activator of cytochrome c oxidase 1 297 32477 8.37 0 Mitochondrion Leigh syndrome Acts as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. NA Belongs to the TACO1 family. Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 17 +NX_Q9BSH5 Haloacid dehalogenase-like hydrolase domain-containing protein 3 251 28000 6.21 0 Cytoplasmic vesicle;Nucleolus NA NA NA Belongs to the HAD-like hydrolase superfamily. NA PE1 9 +NX_Q9BSI4 TERF1-interacting nuclear factor 2 451 50023 8.2 0 Nucleoplasm;Nucleus matrix;Telomere;Nucleus Dyskeratosis congenita, autosomal dominant, 3;Dyskeratosis congenita, autosomal dominant, 5 Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Plays a role in shelterin complex assembly.;May have additional role in tethering telomeres to the nuclear matrix. NA NA Meiotic synapsis;Packaging Of Telomere Ends;DNA Damage/Telomere Stress Induced Senescence;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine PE1 14 +NX_Q9BSJ1 Tripartite motif-containing protein 51 452 52285 5.72 0 Cytoplasmic vesicle;Nucleolus NA NA NA Belongs to the TRIM/RBCC family. NA PE2 11 +NX_Q9BSJ2 Gamma-tubulin complex component 2 902 102534 6.38 0 Nucleoplasm;Centrosome NA Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome. NA Belongs to the TUBGCP family. Recruitment of mitotic centrosome proteins and complexes;Recruitment of NuMA to mitotic centrosomes PE1 10 +NX_Q9BSJ5 Uncharacterized protein C17orf80 609 67315 9.3 1 Membrane;Cytoplasmic vesicle;Nucleoplasm NA NA NA NA NA PE1 17 +NX_Q9BSJ6 Protein PIMREG 248 27480 10.22 0 Nucleoplasm;Nucleolus;Nucleus NA During mitosis, may play a role in the control of metaphase-to-anaphase transition. Ubiquitinated by the anaphase-promoting complex/cyclosome (APC/C) complex in the presence of FZR1, leading to its degradation by the proteasome during mitotic exit. However, degradation is not essential for normal mitotic progression within a single cell cycle. NA NA PE1 17 +NX_Q9BSJ8 Extended synaptotagmin-1 1104 122856 5.57 2 Endoplasmic reticulum;Endoplasmic reticulum membrane;Cell membrane NA Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Binds calcium (via the C2 domains) and translocates to sites of contact between the endoplasmic reticulum and the cell membrane in response to increased cytosolic calcium levels. Helps tether the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane. Phosphorylated on Ser residues in insulin-treated adipocytes (in vitro); this promotes interaction with SLC2A4. Belongs to the extended synaptotagmin family. Glycosphingolipid metabolism PE1 12 +NX_Q9BSK0 MARVEL domain-containing protein 1 173 18914 9.69 4 Cytoskeleton;Nucleus;Cell membrane NA Microtubule-associated protein that exhibits cell cycle-dependent localization and can inhibit cell proliferation and migration. NA NA NA PE1 10 +NX_Q9BSK1 Zinc finger protein 577 485 54939 9.39 0 Nucleoplasm;Nucleus;Nucleolus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9BSK2 Solute carrier family 25 member 33 321 35375 9.65 6 Mitochondrion inner membrane NA Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria (PubMed:25320081). Transports preferentially uracil, thymine, and cytosine (deoxy)nucleoside di- and triphosphates by an antiport mechanism (PubMed:25320081). Also transports guanine but not adenine (deoxy)nucleotides (PubMed:25320081). Is inhibited strongly by pyridoxal 5'-phosphate, 4,7-diphenyl-1,10-phenanthroline, tannic acid, and mercurials (mercury dichloride, mersalyl acid, p-hydroxymercuribenzoate) (PubMed:25320081). Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and mitochondrial respiration (PubMed:20453889). Upon INS or IGF1 stimulation regulates cell growth and proliferation by controlling mitochondrial DNA replication and transcription, the ratio of mitochondria-to nuclear-encoded components of the electron transport chain resulting in control of mitochondrial ROS production (PubMed:20453889, PubMed:17596519). Participates in dendritic cell endocytosis and may associate with mitochondrial oxidative phosphorylation (PubMed:14715278). NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 1 +NX_Q9BSK4 Protein fem-1 homolog A 669 73639 5.71 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Cytosol NA Probable component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate recognition subunit (By similarity). May participate in antiinflammatory signaling via its interaction with PTGER4. NA Belongs to the fem-1 family. Protein modification; protein ubiquitination.;Neddylation PE1 19 +NX_Q9BSL1 Ubiquitin-associated domain-containing protein 1 405 45338 4.82 0 Golgi apparatus;Cytoplasm;Cytosol;Cell membrane NA Non-catalytic subunit of the KPC complex that acts as E3 ubiquitin-protein ligase. Required for poly-ubiquitination and proteasome-mediated degradation of CDKN1B during G1 phase of the cell cycle. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 9 +NX_Q9BSM1 Polycomb group RING finger protein 1 259 30346 9.14 0 Nucleoplasm;Nucleus NA Component of the Polycomb group (PcG) multiprotein BCOR complex, a complex required to maintain the transcriptionally repressive state of some genes, such as BCL6 and the cyclin-dependent kinase inhibitor, CDKN1A. Transcriptional repressor that may be targeted to the DNA by BCL6; this transcription repressor activity may be related to PKC signaling pathway. Represses CDKN1A expression by binding to its promoter, and this repression is dependent on the retinoic acid response element (RARE element). Promotes cell cycle progression and enhances cell proliferation as well. May have a positive role in tumor cell growth by down-regulating CDKN1A. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:26151332). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332). Regulates the expression of DPPA4 and NANOG in the NT2 embryonic carcinoma cells (PubMed:26687479). NA NA NA PE1 2 +NX_Q9BSN7 Transmembrane protein 204 226 24540 8.1 4 Adherens junction;Cell membrane NA Can influence paracellular permeability. Appears to be involved in cell-cell interactions through adherens. NA NA NA PE2 16 +NX_Q9BSQ5 Cerebral cavernous malformations 2 protein 444 48837 5.32 0 Cytoplasm;Mitochondrion Cerebral cavernous malformations 2 Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock (By similarity). NA Belongs to the CCM2 family. NA PE1 7 +NX_Q9BSR8 Protein YIPF4 244 27083 4.5 5 Golgi apparatus;Cell membrane;cis-Golgi network membrane;Endoplasmic reticulum;Cytoplasmic vesicle NA Involved in the maintenance of the Golgi structure. NA Belongs to the YIP1 family. NA PE1 2 +NX_Q9BST9 Rhotekin 563 62667 7.18 0 Nucleoplasm;Mitochondrion NA Mediates Rho signaling to activate NF-kappa-B and may confer increased resistance to apoptosis to cells in gastric tumorigenesis. May play a novel role in the organization of septin structures. NA NA RHO GTPases Activate Rhotekin and Rhophilins PE1 2 +NX_Q9BSU1 UPF0183 protein C16orf70 422 47524 7.64 0 Cytosol;Nucleus speckle;Nucleolus NA NA NA Belongs to the UPF0183 family. NA PE1 16 +NX_Q9BSU3 N-alpha-acetyltransferase 11 229 25979 5.05 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Displays alpha (N-terminal) acetyltransferase activity. Proposed alternative catalytic subunit of the N-terminal acetyltransferase A (NatA) complex. NA Belongs to the acetyltransferase family. ARD1 subfamily. NA PE1 4 +NX_Q9BSV6 tRNA-splicing endonuclease subunit Sen34 310 33652 8.53 0 Nucleoplasm;Nucleus;Nucleolus Pontocerebellar hypoplasia 2C Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. It probably carries the active site for 3'-splice site cleavage. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3'-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3'-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events. NA Belongs to the tRNA-intron endonuclease family. tRNA processing in the nucleus PE1 19 +NX_Q9BSW2 EF-hand calcium-binding domain-containing protein 4B 395 45592 4.95 0 Cytoplasm NA Ca(2+)-binding protein that plays a key role in store-operated Ca(2+) entry (SOCE) in T-cells by regulating CRAC channel activation. Acts as a cytoplasmic calcium-sensor that facilitates the clustering of ORAI1 and STIM1 at the junctional regions between the plasma membrane and the endoplasmic reticulum upon low Ca(2+) concentration. It thereby regulates CRAC channel activation, including translocation and clustering of ORAI1 and STIM1. Upon increase of cytoplasmic Ca(2+) resulting from opening of CRAC channels, dissociates from ORAI1 and STIM1, thereby destabilizing the ORAI1-STIM1 complex. NA Belongs to the EFCAB4 family. Neutrophil degranulation PE1 12 +NX_Q9BSW7 Synaptotagmin-17 474 53849 7.23 0 Membrane;Nucleoplasm;Cytosol NA Plays a role in dendrite formation by melanocytes (PubMed:23999003). NA Belongs to the synaptotagmin family. NA PE1 16 +NX_Q9BSY4 Coiled-coil-helix-coiled-coil-helix domain-containing protein 5 110 12395 6.28 0 Mitochondrion intermembrane space;Mitochondrion NA NA NA NA Mitochondrial protein import PE1 2 +NX_Q9BSY9 Deubiquitinase DESI2 194 21444 4.86 0 Cytoplasm;Cytoplasmic vesicle NA Has deubiquitinating activity towards 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Deubiquitinates 'Lys-48'-linked polyubiquitination of RPS7 leading to its stabilization (PubMed:28483520). NA Belongs to the DeSI family. NA PE1 1 +NX_Q9BT04 Protein fuzzy homolog 418 45679 5.9 0 Cytoplasm;Cytosol;Cilium basal body;Cytoskeleton NA Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies. May regulate the morphogenesis of hair follicles which depends on functional primary cilia (By similarity). NA Belongs to the fuzzy family. Hedgehog 'off' state PE1 19 +NX_Q9BT09 Protein canopy homolog 3 278 30748 5.36 0 Endoplasmic reticulum Epileptic encephalopathy, early infantile, 60 Toll-like receptor (TLR)-specific co-chaperone for HSP90B1. Required for proper TLR folding, except that of TLR3, and hence controls TLR exit from the endoplasmic reticulum. Consequently, required for both innate and adaptive immune responses (By similarity). NA Belongs to the canopy family. Trafficking and processing of endosomal TLR PE1 6 +NX_Q9BT17 Mitochondrial ribosome-associated GTPase 1 334 37237 9.54 0 Mitochondrion inner membrane;Mitochondrion NA Plays a role in the regulation of the mitochondrial ribosome assembly and of translational activity. Displays mitochondrial GTPase activity. NA Belongs to the TRAFAC class YlqF/YawG GTPase family. MTG1 subfamily. NA PE1 10 +NX_Q9BT22 Chitobiosyldiphosphodolichol beta-mannosyltransferase 464 52518 6.8 1 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1K Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER. NA Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 33 subfamily. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein;Defective ALG1 causes ALG1-CDG (CDG-1k) PE1 16 +NX_Q9BT23 LIM domain-containing protein 2 127 14070 9.23 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Acts as an activator of the protein-kinase ILK, thereby regulating cell motility (PubMed:24590809). NA NA NA PE1 17 +NX_Q9BT25 HAUS augmin-like complex subunit 8 410 44857 6.6 0 Cytoplasm;Spindle pole;Spindle;Centrosome NA Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. NA Belongs to the HAUS8 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 19 +NX_Q9BT30 Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial 221 24516 6.61 0 Mitochondrion matrix;Mitochondrion NA May function as protein hydroxylase; can catalyze auto-hydroxylation at Leu-110 (in vitro), but this activity may be due to the absence of the true substrate (PubMed:25122757). Required to induce programmed necrosis in response to DNA damage caused by cytotoxic alkylating agents. Acts by triggering the collapse of mitochondrial membrane potential and loss of mitochondrial function that leads to energy depletion and cell death (PubMed:23666923). ALKBH7-mediated necrosis is probably required to prevent the accumulation of cells with DNA damage (PubMed:23666923). Does not display DNA demethylase activity (PubMed:23666923). Involved in fatty acid metabolism (By similarity). NA Belongs to the alkB family. NA PE1 19 +NX_Q9BT40 Inositol polyphosphate 5-phosphatase K 448 51090 6.07 0 Endoplasmic reticulum;Cytoplasm Muscular dystrophy, congenital, with cataracts and intellectual disability Inositol 5-phosphatase which acts on inositol 1,4,5-trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (PubMed:10753883, PubMed:16824732). Has 6-fold higher affinity for phosphatidylinositol 4,5-bisphosphate than for inositol 1,4,5-trisphosphate (PubMed:10753883). Negatively regulates assembly of the actin cytoskeleton. Controls insulin-dependent glucose uptake among inositol 3,4,5-trisphosphate phosphatases; therefore, is the specific regulator for insulin signaling in skeletal muscle (By similarity). NA Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Insulin signaling pathway;Synthesis of PIPs at the plasma membrane PE1 17 +NX_Q9BT43 DNA-directed RNA polymerase III subunit RPC7-like 218 25334 4.49 0 Nucleus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. NA Belongs to the eukaryotic RPC7 RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Cytosolic DNA-sensing pathway;Cytosolic sensors of pathogen-associated DNA;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter PE1 1 +NX_Q9BT49 THAP domain-containing protein 7 309 34414 9.54 0 Nucleoplasm;Chromosome;Nucleus;Cytoplasmic vesicle NA Chromatin-associated, histone tail-binding protein that represses transcription via recruitment of HDAC3 and nuclear hormone receptor corepressors. NA NA NA PE1 22 +NX_Q9BT56 Spexin 116 13302 9.73 0 Secreted;Secretory vesicle;Extracellular space NA Spexin-1: Intracerebroventricular administration of the peptide induces an increase in arterial blood pressure, a decrease in both heart rate and renal excretion and delayed natriuresis. Intraventricular administration of the peptide induces antinociceptive activity. Also induces contraction of muscarinic-like stomach smooth muscles. Intraperitoneal administration of the peptide induces a reduction in food consumption and body weight. Inhibits long chain fatty acid uptake into adipocytes (By similarity). Acts as a ligand for galanin receptors GALR2 and GALR3 (PubMed:17284679, PubMed:24517231).;Spexin-2: Intracerebroventricular administration of the peptide induces a decrease in heart rate, but no change in arterial pressure, and an increase in urine flow rate. Intraventricular administration of the peptide induces antinociceptive activity (By similarity).;Plays a role as a central modulator of cardiovascular and renal function and nociception. Plays also a role in energy metabolism and storage. Inhibits adrenocortical cell proliferation with minor stimulation on corticosteroid release (By similarity). NA NA NA PE1 12 +NX_Q9BT67 NEDD4 family-interacting protein 1 221 24899 4.55 3 Endosome membrane;Synaptosome;Secreted;Golgi apparatus membrane;Dendrite NA Activates HECT domain-containing E3 ubiquitin-protein ligases, including NEDD4 and ITCH, and consequently modulates the stability of their targets. As a result, controls many cellular processes. Prevents chronic T-helper cell-mediated inflammation by activating ITCH and thus controlling JUNB degradation (By similarity). Promotes pancreatic beta cell death through degradation of JUNB and inhibition of the unfolded protein response, leading to reduction of insulin secretion (PubMed:26319551). Restricts the production of proinflammatory cytokines in effector Th17 T-cells by promoting ITCH-mediated ubiquitination and degradation of RORC (By similarity). Together with NDFIP2, limits the cytokine signaling and expansion of effector Th2 T-cells by promoting degradation of JAK1, probably by ITCH- and NEDD4L-mediated ubiquitination (By similarity). Regulates peripheral T-cell tolerance to self and foreign antigens, forcing the exit of naive CD4+ T-cells from the cell cycle before they become effector T-cells (By similarity). Negatively regulates RLR-mediated antiviral response by promoting SMURF1-mediated ubiquitination and subsequent degradation of MAVS (PubMed:23087404). Negatively regulates KCNH2 potassium channel activity by decreasing its cell-surface expression and interfering with channel maturation through recruitment of NEDD4L to the Golgi apparatus where it mediates KCNH2 degradation (PubMed:26363003). In cortical neurons, mediates the ubiquitination of the divalent metal transporter SLC11A2/DMT1 by NEDD4L, leading to its down-regulation and protection of the cells from cobalt and iron toxicity (PubMed:19706893). Important for normal development of dendrites and dendritic spines in cortex (By similarity). Enhances the ubiquitination of BRAT1 mediated by: NEDD4, NEDD4L and ITCH and is required for the nuclear localization of ubiquitinated BRAT1 (PubMed:25631046). Enhances the ITCH-mediated ubiquitination of MAP3K7 by recruiting E2 ubiquitin-conjugating enzyme UBE2L3 to ITCH (By similarity). Modulates EGFR signaling through multiple pathways. In particular, may regulate the ratio of AKT1-to-MAPK8 signaling in response to EGF, acting on AKT1 probably through PTEN destabilization and on MAPK8 through ITCH-dependent MAP2K4 inactivation. As a result, may control cell growth rate (PubMed:20534535). Inhibits cell proliferation by promoting PTEN nuclear localization and changing its signaling specificity (PubMed:25801959). Undergoes transient tyrosine phosphorylation following EGF stimulation, most probably by catalyzed by SRC. Phosphorylation SRC is enhanced in the presence of NDFIP2 which may act as a scaffold to recruit SRC to NDFIP1.;Ubiquitinated by NEDD4 and ITCH; mono-, di- and polyubiquitinated forms are detected. Ubiquitination regulates its degradation. NA NA PE1 5 +NX_Q9BT73 Proteasome assembly chaperone 3 122 13104 7.72 0 Cytoplasm NA Chaperone protein which promotes assembly of the 20S proteasome. May cooperate with PSMG1-PSMG2 heterodimers to orchestrate the correct assembly of proteasomes. NA Belongs to the PSMG3 family. NA PE1 7 +NX_Q9BT76 Uroplakin-3b 320 33882 6.33 1 Cell membrane NA Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity). NA Belongs to the uroplakin-3 family. NA PE1 7 +NX_Q9BT78 COP9 signalosome complex subunit 4 406 46269 5.57 0 Cytoplasm;Nucleus speckle;Synaptic vesicle;Nucleus NA Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. Also involved in the deneddylation of non-cullin subunits such as STON2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1, IRF8/ICSBP and SNAPIN, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. NA Belongs to the CSN4 family. Formation of TC-NER Pre-Incision Complex;DNA Damage Recognition in GG-NER;Cargo recognition for clathrin-mediated endocytosis;Neddylation PE1 4 +NX_Q9BT81 Transcription factor SOX-7 388 42197 6.2 0 Golgi apparatus;Cytoplasm;Nucleus speckle;Nucleus NA Binds to and activates the CDH5 promoter, hence plays a role in the transcriptional regulation of genes expressed in the hemogenic endothelium and blocks further differentiation into blood precursors (By similarity). May be required for the survival of both hematopoietic and endothelial precursors during specification (By similarity). Competes with GATA4 for binding and activation of the FGF3 promoter (By similarity). Represses Wnt/beta-catenin-stimulated transcription, probably by targeting CTNNB1 to proteasomal degradation. Binds the DNA sequence 5'-AACAAT-3'. NA NA Deactivation of the beta-catenin transactivating complex PE1 8 +NX_Q9BT88 Synaptotagmin-11 431 48297 9.15 1 Lysosome membrane;trans-Golgi network membrane;Perikaryon;Cytoplasmic vesicle membrane;Recycling endosome membrane;Phagosome;Postsynaptic density;Clathrin-coated vesicle membrane;Axon;Dendrite NA Synaptotagmin family member involved in vesicular and membrane trafficking which does not bind Ca(2+). Inhibits clathrin-mediated and bulk endocytosis, functions to ensure precision in vesicle retrieval. Plays an important role in dopamine transmission by regulating endocytosis and the vesicle-recycling process. Essential component of a neuronal vesicular trafficking pathway that differs from the synaptic vesicle trafficking pathway but is crucial for development and synaptic plasticity. In macrophages and microglia, inhibits the conventional cytokine secretion, of at least IL6 and TNF, and phagocytosis. In astrocytes, regulates lysosome exocytosis, mechanism required for the repair of injured astrocyte cell membrane (By similarity). Required for the ATP13A2-mediated regulation of the autophagy-lysosome pathway (PubMed:27278822). Ubiquitinated, at least by PRKN, and targeted to the proteasome complex for degradation (PubMed:12925569, PubMed:27278822). Ubiquitination is inhibited by ATP13A2 (PubMed:27278822). Belongs to the synaptotagmin family. Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 1 +NX_Q9BT92 Trichoplein keratin filament-binding protein 498 61072 6.2 0 Cytoplasm;Desmosome;Mitochondrion;Cell membrane;Centrosome;Cytosol;Cytoskeleton NA Tumor suppressor which has the ability to inhibit cell growth and be pro-apoptotic during cell stress. Inhibits cell growth in bladder and prostate cancer cells by a down-regulation of HSPB1 by inhibiting its phosphorylation. May act as a 'capping' or 'branching' protein for keratin filaments in the cell periphery. May regulate K8/K18 filament and desmosome organization mainly at the apical or peripheral regions of simple epithelial cells (PubMed:15731013, PubMed:18931701). Is a negative regulator of ciliogenesis (PubMed:25270598). Ubiquitinated. Ubiquitination by the BCR(KCTD17) E3 ubiquitin ligase complex results in proteasomal degradation, and induces ciliogenesis. Belongs to the TCHP family. NA PE1 12 +NX_Q9BTA0 Protein FAM167B 163 18414 5.28 0 Cytoskeleton NA NA NA Belongs to the FAM167 (SEC) family. NA PE1 1 +NX_Q9BTA9 WW domain-containing adapter protein with coiled-coil 647 70724 9.49 0 Nucleoplasm;Nucleus speckle;Nucleus DeSanto-Shinawi syndrome Acts as a linker between gene transcription and histone H2B monoubiquitination at 'Lys-120' (H2BK120ub1) (PubMed:21329877). Interacts with the RNA polymerase II transcriptional machinery via its WW domain and with RNF20-RNF40 via its coiled coil region, thereby linking and regulating H2BK120ub1 and gene transcription (PubMed:21329877). Regulates the cell-cycle checkpoint activation in response to DNA damage (PubMed:21329877). Positive regulator of amino acid starvation-induced autophagy (PubMed:22354037). Also acts as a negative regulator of basal autophagy (PubMed:26812014). Positively regulates MTOR activity by promoting, in an energy-dependent manner, the assembly of the TTT complex composed of TELO2, TTI1 and TTI2 and the RUVBL complex composed of RUVBL1 and RUVBL2 into the TTT-RUVBL complex. This leads to the dimerization of the mTORC1 complex and its subsequent activation (PubMed:26812014). May negatively regulate the ubiquitin proteasome pathway (PubMed:21329877). Phosphorylated on tyrosine residues. NA E3 ubiquitin ligases ubiquitinate target proteins PE1 10 +NX_Q9BTC0 Death-inducer obliterator 1 2240 243873 8.09 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Spindle;Nucleus NA Putative transcription factor, weakly pro-apoptotic when overexpressed (By similarity). Tumor suppressor. Required for early embryonic stem cell development.;Displaces isoform 4 at the onset of differentiation, required for repression of stemness genes. NA NA Meiotic synapsis PE1 20 +NX_Q9BTC8 Metastasis-associated protein MTA3 594 67504 8.8 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Plays a role in maintenance of the normal epithelial architecture through the repression of SNAI1 transcription in a histone deacetylase-dependent manner, and thus the regulation of E-cadherin levels. Contributes to transcriptional repression by BCL6. NA NA RNA Polymerase I Transcription Initiation;HDACs deacetylate histones;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;Regulation of PTEN gene transcription PE1 2 +NX_Q9BTD1 Putative uncharacterized protein SHANK2-AS3 123 13317 9.49 0 NA NA NA NA NA NA PE5 11 +NX_Q9BTD3 Transmembrane protein 121 319 35814 9.39 7 Membrane;Cytosol NA May play a role in MAPK signaling. NA Belongs to the TMEM121 family. NA PE2 14 +NX_Q9BTD8 RNA-binding protein 42 480 50414 9.65 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Binds (via the RRM domain) to the 3'-untranslated region (UTR) of CDKN1A mRNA. NA Belongs to the RRM RBM42 family. NA PE1 19 +NX_Q9BTE0 N-acetyltransferase 9 207 23361 4.67 0 Cytoplasm;Nucleoplasm;Nucleus NA NA NA Belongs to the acetyltransferase family. GNAT subfamily. NA PE1 17 +NX_Q9BTE1 Dynactin subunit 5 182 20127 8.32 0 Nucleoplasm;Nucleus membrane;Kinetochore;Cytoskeleton NA NA NA Belongs to the dynactin subunits 5/6 family. Dynactin subunit 5 subfamily. Vasopressin-regulated water reabsorption;MHC class II antigen presentation;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 16 +NX_Q9BTE3 Mini-chromosome maintenance complex-binding protein 642 72980 5.56 0 Nucleoplasm;Cytosol;Cell junction;Nucleus NA Associated component of the MCM complex that acts as a regulator of DNA replication. Binds to the MCM complex during late S phase and promotes the disassembly of the MCM complex from chromatin, thereby acting as a key regulator of pre-replication complex (pre-RC) unloading from replicated DNA. Can dissociate the MCM complex without addition of ATP; probably acts by destabilizing interactions of each individual subunits of the MCM complex. Required for sister chromatid cohesion. NA Belongs to the MCMBP family. NA PE1 10 +NX_Q9BTE6 Alanyl-tRNA editing protein Aarsd1 412 45480 6 0 Cytoplasm;Cytosol;Nucleus membrane NA Functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala). NA Belongs to the class-II aminoacyl-tRNA synthetase family. Alax-L subfamily. NA PE1 17 +NX_Q9BTE7 DCN1-like protein 5 237 27508 5.44 0 Nucleoplasm;Nucleolus NA NA NA NA Neddylation PE1 11 +NX_Q9BTF0 THUMP domain-containing protein 2 503 56433 7.92 0 Nucleoplasm NA NA NA Belongs to the methyltransferase superfamily. NA PE1 2 +NX_Q9BTK2 Putative uncharacterized protein LOC642776 45 4916 11.19 0 NA NA NA NA NA NA PE5 X +NX_Q9BTK6 PAXIP1-associated glutamate-rich protein 1 254 27716 4.4 0 Nucleus NA Its association with the histone methyltransferase MLL2/MLL3 complex is suggesting a role in epigenetic transcriptional activation. However, in association with PAXIP1/PTIP is proposed to function at least in part independently of the MLL2/MLL3 complex. Proposed to be recruited by PAXIP1 to sites of DNA damage where the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage independently of the MLL2/MLL3 complex (PubMed:19124460). However, its function in DNA damage has been questioned (By similarity). During immunoglobulin class switching in activated B-cells is involved in transcription regulation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus independently of the MLL2/MLL3 complex (By similarity). Involved in both estrogen receptor-regulated gene transcription and estrogen-stimulated G1/S cell-cycle transition (PubMed:19039327). Acts as transcriptional cofactor for nuclear hormone receptors. Inhibits the induction properties of several steroid receptors such as NR3C1, AR and PPARG; the mechanism of inhibition appears to be gene-dependent (PubMed:23161582). NA NA Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 16 +NX_Q9BTL3 RNA guanine-N7 methyltransferase activating subunit 118 14381 8.89 0 Nucleoplasm;Nucleus NA Regulatory subunit of the mRNA-capping methyltransferase RNMT:RAMAC complex that methylates the N7 position of the added guanosine to the 5'-cap structure of mRNAs (PubMed:22099306, PubMed:27422871). Promotes the recruitment of the methyl donor, S-adenosyl-L-methionine, to RNMT (PubMed:27422871). Regulates RNMT expression by a post-transcriptional stabilizing mechanism (PubMed:22099306). Binds RNA (PubMed:22099306). NA Belongs to the RAM family. NA PE1 15 +NX_Q9BTL4 Immediate early response gene 2 protein 223 24196 6.46 0 Nucleoplasm;Cytoplasm;Nucleus NA DNA-binding protein that seems to act as a transcription factor (PubMed:19584537). Involved in the regulation of neuronal differentiation, acts upon JNK-signaling pathway activation and plays a role in neurite outgrowth in hippocampal cells (By similarity). May mediate with FIBP FGF-signaling in the establishment of laterality in the embryo (By similarity). Promotes cell motility, seems to stimulate tumor metastasis (PubMed:22120713). NA Belongs to the IER family. NA PE1 19 +NX_Q9BTM1 Histone H2A.J 129 14019 10.9 0 Nucleus;Chromosome NA Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (By similarity).;Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription (By similarity).;Monoubiquitination of Lys-120 (H2AXK119ub) gives a specific tag for epigenetic transcriptional repression. Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties (By similarity). Belongs to the histone H2A family. Systemic lupus erythematosus;Transcriptional regulation by small RNAs;RMTs methylate histone arginines;NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Escape;Oxidative Stress Induced Senescence;Meiotic synapsis;Packaging Of Telomere Ends;Formation of the beta-catenin:TCF transactivating complex;PRC2 methylates histones and DNA;Condensation of Prophase Chromosomes;Senescence-Associated Secretory Phenotype (SASP);DNA Damage/Telomere Stress Induced Senescence;SIRT1 negatively regulates rRNA expression;DNA methylation;Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;Deposition of new CENPA-containing nucleosomes at the centromere;RNA Polymerase I Promoter Opening;Meiotic recombination;Pre-NOTCH Transcription and Translation;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine;Activation of anterior HOX genes in hindbrain development during early embryogenesis;B-WICH complex positively regulates rRNA expression;ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression;RUNX1 regulates transcription of genes involved in differentiation of HSCs;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Estrogen-dependent gene expression;Transcriptional regulation of granulopoiesis PE1 12 +NX_Q9BTM9 Ubiquitin-related modifier 1 101 11380 4.54 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle NA Acts as a sulfur carrier required for 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of cytosolic tRNA(Lys), tRNA(Glu) and tRNA(Gln). Serves as sulfur donor in tRNA 2-thiolation reaction by being thiocarboxylated (-COSH) at its C-terminus by MOCS3. The sulfur is then transferred to tRNA to form 2-thiolation of mcm(5)S(2)U. Also acts as a ubiquitin-like protein (UBL) that is covalently conjugated via an isopeptide bond to lysine residues of target proteins such as MOCS3, ATPBD3, CTU2, USP15 and CAS. The thiocarboxylated form serves as substrate for conjugation and oxidative stress specifically induces the formation of UBL-protein conjugates. C-terminal thiocarboxylation occurs in 2 steps, it is first acyl-adenylated (-COAMP) via the hesA/moeB/thiF part of MOCS3, then thiocarboxylated (-COSH) via the rhodanese domain of MOCS3. Belongs to the URM1 family. tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis.;Sulfur relay system;tRNA modification in the nucleus and cytosol PE1 9 +NX_Q9BTN0 Leucine-rich repeat and fibronectin type-III domain-containing protein 3 628 66260 6.88 1 Presynaptic cell membrane;Cell membrane;Postsynaptic cell membrane;Synapse;Axon;Dendrite NA Cell adhesion molecule that mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner. Promotes neurite outgrowth in hippocampal neurons (By similarity). N-glycosylated. Belongs to the LRFN family. Synaptic adhesion-like molecules PE1 19 +NX_Q9BTP6 Zinc finger BED domain-containing protein 2 218 25122 6.57 0 Cytosol;Mitochondrion;Nucleus NA NA NA NA NA PE1 3 +NX_Q9BTP7 Fanconi anemia core complex-associated protein 24 215 23897 9.28 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Plays a role in DNA repair through recruitment of the FA core complex to damaged DNA. Regulates FANCD2 monoubiquitination upon DNA damage. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed. Targets FANCM/FAAP24 complex to the DNA, preferentially to single strand DNA. NA NA Fanconi anemia pathway;Fanconi Anemia Pathway PE1 19 +NX_Q9BTT0 Acidic leucine-rich nuclear phosphoprotein 32 family member E 268 30692 3.77 0 Cytoplasm;Nucleus NA Histone chaperone that specifically mediates the genome-wide removal of histone H2A.Z/H2AFZ from the nucleosome: removes H2A.Z/H2AFZ from its normal sites of deposition, especially from enhancer and insulator regions. Not involved in deposition of H2A.Z/H2AFZ in the nucleosome. May stabilize the evicted H2A.Z/H2AFZ-H2B dimer, thus shifting the equilibrium towards dissociation and the off-chromatin state (PubMed:24463511). Inhibits activity of protein phosphatase 2A (PP2A). Does not inhibit protein phosphatase 1. May play a role in cerebellar development and synaptogenesis. Phosphorylated. The phosphorylation is nuclear localization signal (NLS)-dependent (By similarity). Belongs to the ANP32 family. NA PE1 1 +NX_Q9BTT4 Mediator of RNA polymerase II transcription subunit 10 135 15688 5.82 0 Nucleoplasm;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 10 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 5 +NX_Q9BTT6 Leucine-rich repeat-containing protein 1 524 59242 4.94 0 Membrane;Cytoplasm;Cytosol NA NA NA NA NA PE1 6 +NX_Q9BTU6 Phosphatidylinositol 4-kinase type 2-alpha 479 54022 8.51 0 Mitochondrion;Presynaptic cell membrane;Cell membrane;Synaptosome;trans-Golgi network membrane;Perikaryon;Membrane;Endosome;Membrane raft;Cytoplasmic vesicle;Neuron projection;Dendrite NA Membrane-bound phosphatidylinositol-4 kinase (PI4-kinase) that catalyzes the phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P), a lipid that plays important roles in endocytosis, Golgi function, protein sorting and membrane trafficking and is required for prolonged survival of neurons. Besides, phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P) is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second messenger inositol 1,4,5-trisphosphate (InsP3). Ubiquitinated by ITCH; this does not lead to proteasomal degradation.;Palmitoylated by ZDHHC3 and ZDHHC7 in the CCPCC motif. Palmitoylation is cholesterol-dependent, and required for TGN localization. Belongs to the PI3/PI4-kinase family. Type II PI4K subfamily. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PIPs at the plasma membrane;Synthesis of PIPs at the Golgi membrane;Synthesis of PIPs at the early endosome membrane PE1 10 +NX_Q9BTV4 Transmembrane protein 43 400 44876 7.86 4 Endoplasmic reticulum;Golgi apparatus;Nucleus inner membrane Arrhythmogenic right ventricular dysplasia, familial, 5;Emery-Dreifuss muscular dystrophy 7, autosomal dominant May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). NA Belongs to the TMEM43 family. NA PE1 3 +NX_Q9BTV5 Fibronectin type III and SPRY domain-containing protein 1 496 55820 6.54 0 Cytoplasm;Centrosome;Cleavage furrow;Nucleus NA May be involved in microtubule organization and stabilization. NA NA NA PE1 19 +NX_Q9BTV6 Diphthine methyltransferase 452 50575 6.11 0 Nucleus NA Catalyzes the demethylation of diphthine methyl ester to form diphthine, an intermediate diphthamide biosynthesis, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta). NA Belongs to the DPH7 family. Protein modification; peptidyl-diphthamide biosynthesis.;Synthesis of diphthamide-EEF2 PE1 9 +NX_Q9BTV7 CDK5 and ABL1 enzyme substrate 2 478 52235 9.84 0 Nucleoplasm;Cell junction;Nucleus NA Unknown. Probably involved in G1-S cell cycle transition. NA Belongs to the cyclin family. Factors involved in megakaryocyte development and platelet production PE1 20 +NX_Q9BTW9 Tubulin-specific chaperone D 1192 132600 5.8 0 Cytoplasm;Lateral cell membrane;Adherens junction;Tight junction;Centrosome Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum Tubulin-folding protein implicated in the first step of the tubulin folding pathway and required for tubulin complex assembly. Involved in the regulation of microtubule polymerization or depolymerization, it modulates microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Its ability to interact with beta tubulin is regulated via its interaction with ARL2. Acts as a GTPase-activating protein (GAP) for ARL2. Induces microtubule disruption in absence of ARL2. Increases degradation of beta tubulin, when overexpressed in polarized cells. Promotes epithelial cell detachment, a process antagonized by ARL2. Induces tight adherens and tight junctions disassembly at the lateral cell membrane (PubMed:10722852, PubMed:10831612, PubMed:11847227, PubMed:20740604, PubMed:27666370, PubMed:28158450). Required for correct assembly and maintenance of the mitotic spindle, and proper progression of mitosis (PubMed:27666370). Involved in neuron morphogenesis (PubMed:27666374). NA Belongs to the TBCD family. Post-chaperonin tubulin folding pathway PE1 17 +NX_Q9BTX1 Nucleoporin NDC1 674 76305 9.22 6 Cytoskeleton;Cell membrane;Nucleus membrane;Nuclear pore complex NA Component of the nuclear pore complex (NPC), which plays a key role in de novo assembly and insertion of NPC in the nuclear envelope. Required for NPC and nuclear envelope assembly, possibly by forming a link between the nuclear envelope membrane and soluble nucleoporins, thereby anchoring the NPC in the membrane. NA Belongs to the NDC1 family. RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 1 +NX_Q9BTX3 Transmembrane protein 208 173 19642 9.33 3 Endoplasmic reticulum membrane NA May function as a negative regulator of endoplasmic reticulum-stress induced autophagy. NA Belongs to the TMEM208 family. NA PE1 16 +NX_Q9BTX7 Alpha-tocopherol transfer protein-like 342 38515 6.03 0 Golgi apparatus;Cytosol NA May act as a protein that binds a hydrophobic ligand. NA NA NA PE1 20 +NX_Q9BTY2 Plasma alpha-L-fucosidase 467 54067 5.84 0 Secreted NA Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. NA Belongs to the glycosyl hydrolase 29 family. Other glycan degradation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Neutrophil degranulation;Post-translational protein phosphorylation PE1 6 +NX_Q9BTY7 Protein HGH1 homolog 390 42129 4.73 0 Nucleoplasm;Cytosol;Nucleus NA NA NA Belongs to the HGH1 family. NA PE1 8 +NX_Q9BTZ2 Dehydrogenase/reductase SDR family member 4 278 29537 8.81 0 Peroxisome;Nucleus NA Reduces all-trans-retinal and 9-cis retinal. Can also catalyze the oxidation of all-trans-retinol with NADP as co-factor, but with much lower efficiency. Reduces alkyl phenyl ketones and alpha-dicarbonyl compounds with aromatic rings, such as pyrimidine-4-aldehyde, 3-benzoylpyridine, 4-benzoylpyridine, menadione and 4-hexanoylpyridine. Has no activity towards aliphatic aldehydes and ketones (By similarity). NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Retinol metabolism;Metabolic pathways;Peroxisome;RA biosynthesis pathway;Peroxisomal protein import PE1 14 +NX_Q9BU02 Thiamine-triphosphatase 230 25566 4.75 0 Nucleoplasm;Cytoplasm;Nucleolus NA Hydrolase highly specific for thiamine triphosphate (ThTP). NA Belongs to the ThTPase family. Thiamine metabolism;Metabolic pathways;Vitamin B1 (thiamin) metabolism PE1 14 +NX_Q9BU19 Zinc finger protein 692 519 56968 7.54 0 Nucleoplasm;Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 1 +NX_Q9BU20 Ciliogenesis and planar polarity effector 2 258 28498 7.06 0 Nucleoplasm;Cilium basal body NA Potential effector of the planar cell polarity signaling pathway. Plays a role in targeted membrane trafficking most probably at the level of vesicle fusion with membranes. Involved in cilium biogenesis by regulating the transport of cargo proteins to the basal body and to the apical tips of cilia. More generally involved in exocytosis in secretory cells (By similarity). NA Belongs to the small GTPase superfamily. Rab family. NA PE1 1 +NX_Q9BU23 Lipase maturation factor 2 707 79698 10.1 11 Endoplasmic reticulum;Endoplasmic reticulum membrane;Centrosome NA Involved in the maturation of specific proteins in the endoplasmic reticulum. May be required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway (By similarity). NA Belongs to the lipase maturation factor family. Assembly of active LPL and LIPC lipase complexes PE1 22 +NX_Q9BU40 Chordin-like protein 1 456 52026 8.71 0 Secreted Megalocornea 1, X-linked Antagonizes the function of BMP4 by binding to it and preventing its interaction with receptors. Alters the fate commitment of neural stem cells from gliogenesis to neurogenesis. Contributes to neuronal differentiation of neural stem cells in the brain by preventing the adoption of a glial fate. May play a crucial role in dorsoventral axis formation. May play a role in embryonic bone formation (By similarity). May also play an important role in regulating retinal angiogenesis through modulation of BMP4 actions in endothelial cells. Plays a role during anterior segment eye development. NA NA Signaling by BMP;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 X +NX_Q9BU61 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 184 20350 8.48 0 Mitochondrion inner membrane;Nucleus Mitochondrial complex I deficiency, nuclear type 18 Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). NA NA Complex I biogenesis PE1 3 +NX_Q9BU64 Centromere protein O 300 33786 7.63 0 Kinetochore;Nucleoplasm;Centromere;Nucleus NA Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Modulates the kinetochore-bound levels of NDC80 complex. NA Belongs to the CENP-O/MCM21 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Deposition of new CENPA-containing nucleosomes at the centromere;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 2 +NX_Q9BU68 Proline-rich protein 15-like protein 103 11705 9.49 0 Cytosol NA NA NA Belongs to the PRR15 family. NA PE1 17 +NX_Q9BU70 tRNA (adenine(37)-N6)-methyltransferase 441 48587 6.74 0 Nucleoplasm NA S-adenosyl-L-methionine-dependent methyltransferase responsible for the addition of the methyl group in the formation of N6-methyl-N6-threonylcarbamoyladenosine at position 37 (m(6)t(6)A37) of the tRNA anticodon loop of tRNA(Ser)(GCU) (PubMed:25063302). The methyl group of m(6)t(6)A37 may improve the efficiency of the tRNA decoding ability. May bind to tRNA (By similarity). NA NA NA PE1 9 +NX_Q9BU76 Multiple myeloma tumor-associated protein 2 263 29412 10.03 0 Cytosol;Nucleus speckle;Cell membrane NA NA NA NA Neutrophil degranulation PE1 1 +NX_Q9BU79 Transmembrane protein 243 118 13391 8.4 3 Membrane NA NA NA Belongs to the TMEM243 family. NA PE1 7 +NX_Q9BU89 Deoxyhypusine hydroxylase 302 32904 4.74 0 Nucleoplasm;Cytosol;Nucleolus NA Catalyzes the hydroxylation of the N(6)-(4-aminobutyl)-L-lysine intermediate produced by deoxyhypusine synthase/DHPS on a critical lysine of the eukaryotic translation initiation factor 5A/eIF-5A. This is the second step of the post-translational modification of that lysine into an unusual amino acid residue named hypusine (PubMed:16533814, PubMed:16371467, PubMed:19706422). Hypusination is unique to mature eIF-5A factor and is essential for its function (By similarity). NA Belongs to the deoxyhypusine hydroxylase family. Protein modification; eIF5A hypusination.;Hypusine synthesis from eIF5A-lysine PE1 19 +NX_Q9BUA3 Spindlin interactor and repressor of chromatin-binding protein 381 41037 4.92 0 Nucleus speckle NA Negatively regulates the transcriptional activator activity of SPIN1 via inhibition of its histone methyl-binding ability. Represses the expression of a number of SPIN1-regulated genes and the SPIN1-mediated activation of the Wnt signaling pathway. Can also inhibit the histone methyl-binding abilities of SPIN2A, SPIN2B, SPIN3 and SPIN4 (PubMed:29061846). NA NA NA PE1 11 +NX_Q9BUA6 Myosin regulatory light chain 10 226 25308 5.56 0 Mitochondrion NA NA NA NA Focal adhesion;Tight junction;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Smooth Muscle Contraction PE1 7 +NX_Q9BUB4 tRNA-specific adenosine deaminase 1 502 55392 9.2 0 Nucleoplasm NA Specifically deaminates adenosine-37 to inosine in tRNA-Ala. NA Belongs to the ADAT1 family. tRNA modification in the nucleus and cytosol PE1 16 +NX_Q9BUB5 MAP kinase-interacting serine/threonine-protein kinase 1 465 51342 6.26 0 Nucleoplasm;Cytoplasm;Nucleus NA May play a role in the response to environmental stress and cytokines. Appears to regulate translation by phosphorylating EIF4E, thus increasing the affinity of this protein for the 7-methylguanosine-containing mRNA cap. Dual phosphorylation of Thr-250 and Thr-255 activates the kinase. Phosphorylation of Thr-385 activates the kinase. MAPK3/ERK1 is one of the kinases which activate MKNK1/MNK1. Phosphorylation by PAK2 leads to a reduced phosphorylation of EIF4G1.;MKNK1 is phosphorylated by MAPK14 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. MAPK signaling pathway;Insulin signaling pathway;Spry regulation of FGF signaling PE1 1 +NX_Q9BUB7 Transmembrane protein 70, mitochondrial 260 28969 9.02 2 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion Mitochondrial complex V deficiency, nuclear type 2 Involved in biogenesis of mitochondrial ATP synthase. NA Belongs to the TMEM70 family. NA PE1 8 +NX_Q9BUD6 Spondin-2 331 35846 5.35 0 Cytoplasmic vesicle;Extracellular matrix NA Cell adhesion protein that promotes adhesion and outgrowth of hippocampal embryonic neurons. Binds directly to bacteria and their components and functions as an opsonin for macrophage phagocytosis of bacteria. Essential in the initiation of the innate immune response and represents a unique pattern-recognition molecule in the ECM for microbial pathogens (By similarity). Binds bacterial lipopolysaccharide (LPS). NA NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 4 +NX_Q9BUE0 Mediator of RNA polymerase II transcription subunit 18 208 23663 6.06 0 Nucleoplasm;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 18 family. PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 1 +NX_Q9BUE6 Iron-sulfur cluster assembly 1 homolog, mitochondrial 129 14179 9.19 0 Mitochondrion Multiple mitochondrial dysfunctions syndrome 5 Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. Probably involved in the binding of an intermediate of Fe/S cluster assembly. NA Belongs to the HesB/IscA family. Mitochondrial iron-sulfur cluster biogenesis PE1 9 +NX_Q9BUF5 Tubulin beta-6 chain 446 49857 4.77 0 Cytoskeleton Facial palsy, congenital, with ptosis and velopharyngeal dysfunction Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.;Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).;Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866). Belongs to the tubulin family. Phagosome;Gap junction;Pathogenic Escherichia coli infection;Separation of Sister Chromatids;MHC class II antigen presentation;Intraflagellar transport;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Hedgehog 'off' state;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Post-chaperonin tubulin folding pathway;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 18 +NX_Q9BUF7 Protein crumbs homolog 3 120 12854 9.96 1 Apical cell membrane;Tight junction;Cell junction NA Involved in the establishment of cell polarity in mammalian epithelial cells. Regulates the morphogenesis of tight junctions. NA NA Tight junction;Tight junction interactions PE1 19 +NX_Q9BUG6 Zinc finger and SCAN domain-containing protein 5A 496 55865 8.7 0 Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 19 +NX_Q9BUH6 Protein PAXX 204 21640 5.39 0 Nucleoplasm;Nucleus NA Involved in non-homologous end joining (NHEJ), a major pathway to repair double-strand breaks in DNA. May act as a scaffold required to stabilize the Ku heterodimer, composed of XRCC5/Ku80 and XRCC6/Ku70, at double-strand break sites and promote the assembly and/or stability of the NHEJ machinery. NA NA NA PE1 9 +NX_Q9BUH8 Brain-enriched guanylate kinase-associated protein 593 64803 5.4 0 Golgi apparatus;Cytoplasm;Membrane;Nucleoplasm;Cytosol NA May sustain the structure of the postsynaptic density (PSD). NA NA Neurexins and neuroligins PE1 14 +NX_Q9BUI4 DNA-directed RNA polymerase III subunit RPC3 534 60612 6.88 0 Nucleoplasm;Nucleus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. May direct with other members of the subcomplex RNA Pol III binding to the TFIIIB-DNA complex via the interactions between TFIIIB and POLR3F. May be involved either in the recruitment and stabilization of the subcomplex within RNA polymerase III, or in stimulating catalytic functions of other subunits during initiation. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway. Preferentially binds single-stranded DNA (ssDNA) in a sequence-independent manner (PubMed:21358628). NA Belongs to the eukaryotic RPC3/POLR3C RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Cytosolic DNA-sensing pathway;Cytosolic sensors of pathogen-associated DNA;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter PE1 1 +NX_Q9BUJ0 Protein ABHD14A 271 29765 8.74 1 Membrane;Endoplasmic reticulum;Cytoplasm;Cytoplasmic vesicle NA Possible role in granule neuron development. NA Belongs to the AB hydrolase superfamily. ABHD14 family. NA PE1 3 +NX_Q9BUJ2 Heterogeneous nuclear ribonucleoprotein U-like protein 1 856 95739 6.49 0 Nucleoplasm;Nucleus NA Acts as a basic transcriptional regulator. Represses basic transcription driven by several virus and cellular promoters. When associated with BRD7, activates transcription of glucocorticoid-responsive promoter in the absence of ligand-stimulation. Plays also a role in mRNA processing and transport. Binds avidly to poly(G) and poly(C) RNA homopolymers in vitro. Methylated. NA Influenza A;mRNA Splicing - Major Pathway PE1 19 +NX_Q9BUK0 Coiled-coil-helix-coiled-coil-helix domain-containing protein 7 85 10095 9.1 0 Cytosol;Mitochondrion intermembrane space;Cell junction NA NA NA Belongs to the CHCHD7 family. Mitochondrial protein import PE1 8 +NX_Q9BUK6 Protein misato homolog 1 570 61835 5.7 0 Mitochondrion outer membrane;Cytoplasm;Nucleus Myopathy, mitochondrial, and ataxia Involved in the regulation of mitochondrial distribution and morphology (PubMed:17349998, PubMed:28554942, PubMed:28544275). Required for mitochondrial fusion and mitochondrial network formation (PubMed:28554942, PubMed:28544275). NA Belongs to the misato family. NA PE1 1 +NX_Q9BUL5 PHD finger protein 23 403 43818 5.62 0 Cytoplasm;Nucleoplasm;Nucleus NA Acts as a negative regulator of autophagy, through promoting ubiquitination and degradation of LRSAM1, an E3 ubiquitin ligase that promotes autophagy in response to starvation or infecting bacteria. NA Belongs to the PHF23 family. NA PE1 17 +NX_Q9BUL8 Programmed cell death protein 10 212 24702 7.8 0 Golgi apparatus membrane;Cytoplasm;Cell membrane Cerebral cavernous malformations 3 Promotes cell proliferation. Modulates apoptotic pathways. Increases mitogen-activated protein kinase activity and STK26 activity (PubMed:27807006). Important for cell migration, and for normal structure and assembly of the Golgi complex (PubMed:27807006). Important for KDR/VEGFR2 signaling. Increases the stability of KDR/VEGFR2 and prevents its breakdown. Required for normal cardiovascular development. Required for normal angiogenesis, vasculogenesis and hematopoiesis during embryonic development (By similarity). NA Belongs to the PDCD10 family. NA PE1 3 +NX_Q9BUL9 Ribonuclease P protein subunit p25 199 20632 9.66 0 Nucleoplasm;Centriolar satellite;Nucleolus NA Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:12003489, PubMed:16723659, PubMed:30454648). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465). NA Belongs to the histone-like Alba family. Ribosome biogenesis in eukaryotes;RNA transport;tRNA processing in the nucleus;Major pathway of rRNA processing in the nucleolus and cytosol PE1 15 +NX_Q9BUM1 Glucose-6-phosphatase 3 346 38735 8.47 9 Endoplasmic reticulum;Endoplasmic reticulum membrane Neutropenia, severe congenital 4, autosomal recessive;Dursun syndrome Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenesis. Probably required for normal neutrophil function. NA Belongs to the glucose-6-phosphatase family. Carbohydrate biosynthesis; gluconeogenesis.;Gluconeogenesis;Severe congenital neutropenia type 4 (G6PC3) PE1 17 +NX_Q9BUN1 Protein MENT 341 36769 8.96 0 Secreted NA Involved in control of cellular proliferation. Onconcogenic modifier contributing to the tumor suppressor function of DNMT3B. Phosphorylation sites are present in the extracellular medium. NA NA PE1 1 +NX_Q9BUN5 Coiled-coil domain-containing protein 28B 200 22037 5.23 0 Centrosome Bardet-Biedl syndrome Involved in ciliogenesis. Regulates cilia length through its interaction with MAPKAP1/SIN1 but independently of mTORC2 complex. Modulates mTORC2 complex assembly and function, possibly enhances AKT1 phosphorylation. Does not seem to modulate assembly and function of mTORC1 complex. NA NA NA PE1 1 +NX_Q9BUN8 Derlin-1 251 28801 9.54 4 Endoplasmic reticulum;Endoplasmic reticulum membrane NA (Microbial infection) In case of infection by cytomegaloviruses, it plays a central role in the export from the ER and subsequent degradation of MHC class I heavy chains via its interaction with US11 viral protein, which recognizes and associates with MHC class I heavy chains. Also participates in the degradation process of misfolded cytomegalovirus US2 protein.;Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by forming a channel that allows the retrotranslocation of misfolded proteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded protein (PubMed:15215856). Also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). NA Belongs to the derlin family. Protein processing in endoplasmic reticulum;Amyotrophic lateral sclerosis (ALS);ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;N-glycan trimming in the ER and Calnexin/Calreticulin cycle;E3 ubiquitin ligases ubiquitinate target proteins PE1 8 +NX_Q9BUP0 EF-hand domain-containing protein D1 239 26928 5.34 0 Golgi apparatus;Mitochondrion inner membrane;Nucleolus NA Acts as a calcium sensor for mitochondrial flash (mitoflash) activation, an event characterized by stochastic bursts of superoxide production (PubMed:26975899). May play a role in neuronal differentiation (By similarity). NA NA NA PE1 2 +NX_Q9BUP3 Oxidoreductase HTATIP2 242 27049 8.58 0 Cytoplasm;Cytosol;Nucleus envelope NA Has an antiapoptotic effect.;Is a metastasis suppressor with proapoptotic as well as antiangiogenic properties.;Oxidoreductase required for tumor suppression. NAPDH-bound form inhibits nuclear import by competing with nuclear import substrates for binding to a subset of nuclear transport receptors. May act as a redox sensor linked to transcription through regulation of nuclear import. NA NA NA PE1 11 +NX_Q9BUQ8 Probable ATP-dependent RNA helicase DDX23 820 95583 9.58 0 Nucleoplasm;Nucleolus;Nucleus NA Involved in pre-mRNA splicing and its phosphorylated form (by SRPK2) is required for spliceosomal B complex formation. In vitro phosphorylated by CLK1 and U1 snRNP-associated protein kinase. Phosphorylated by SRPK2 and this phosphorylation is required for its association with the tri-snRNP (U4/U6-U5 tri-small nuclear ribonucleoproteins) and subsequent spliceosomal B complex formation.;DDX23 is phosphorylated by SRPK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the DEAD box helicase family. DDX23/PRP28 subfamily. Spliceosome;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway PE1 12 +NX_Q9BUR4 Telomerase Cajal body protein 1 548 59309 4.46 0 Cajal body;Chromosome;Nucleoplasm;Telomere;Cytosol;Nucleus Dyskeratosis congenita, autosomal recessive, 3 RNA chaperone that plays a key role in telomere maintenance and RNA localization to Cajal bodies (PubMed:29804836, PubMed:29695869). Specifically recognizes and binds the Cajal body box (CAB box) present in both small Cajal body RNAs (scaRNAs) and telomerase RNA template component (TERC) (PubMed:19285445, PubMed:20351177, PubMed:29804836, PubMed:29695869). Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes (PubMed:19179534, PubMed:20351177, PubMed:26170453, PubMed:29695869). In the telomerase holoenzyme complex, required to stimulate the catalytic activity of the complex (PubMed:27525486, PubMed:29804836). Acts by specifically binding the CAB box of the TERC RNA and controlling the folding of the CR4/CR5 region of the TERC RNA, a critical step for telomerase activity (PubMed:29804836). In addition, also controls telomerase holoenzyme complex localization to Cajal body (PubMed:22547674). During S phase, required for delivery of TERC to telomeres during S phase and for telomerase activity (PubMed:29804836). In addition to its role in telomere maintenance, also required for Cajal body formation, probably by mediating localization of scaRNAs to Cajal bodies (PubMed:19285445, PubMed:21072240). Also plays a role in DNA repair: phosphorylated by ATM in response to DNA damage and relocalizes to sites of DNA double-strand breaks to promote the repair of DNA double-strand breaks (PubMed:25512560, PubMed:27715493). Acts by recruiting the ubiquitin ligase RNF8 to DNA breaks and promote both homologous recombination (HR) and non-homologous end joining (NHEJ) (PubMed:25512560, PubMed:27715493). Phosphorylated at Ser-64 by ATM in response to DNA damage, promoting its interaction with histone H2AX/H2AFX and localization to sites of DNA double-strand breaks. Belongs to the TCAB1 family. Association of TriC/CCT with target proteins during biosynthesis;Telomere Extension By Telomerase PE1 17 +NX_Q9BUR5 MICOS complex subunit MIC26 198 22285 9.18 1 Endoplasmic reticulum membrane;Mitochondrion;Secreted;Golgi apparatus membrane;Cytosol;Mitochondrion inner membrane NA Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays a crucial role in crista junction formation and mitochondrial function (PubMed:25764979). Can promote cardiac lipotoxicity by enhancing mitochondrial respiration and fatty acid metabolism in cardiac myoblasts (PubMed:24743151). Promotes cholesterol efflux from macrophage cells. Detected in HDL, LDL and VLDL. Secreted by a microsomal triglyceride transfer protein (MTTP)-dependent mechanism, probably as a VLDL-associated protein that is subsequently transferred to HDL (PubMed:16956892). O-glycosylation; glycosaminoglycan of chondroitin-sulfate type. Belongs to the apolipoprotein O/MICOS complex subunit Mic27 family. Cristae formation PE1 X +NX_Q9BUT1 3-hydroxybutyrate dehydrogenase type 2 245 26724 7.56 0 Cytoplasm;Cytosol NA Dehydrogenase that mediates the formation of 2,5-dihydroxybenzoic acid (2,5-DHBA), a siderophore that shares structural similarities with bacterial enterobactin and associates with LCN2, thereby playing a key role in iron assimilation and homeostasis. Plays a role in susceptibility to bacterial infection by providing an assimilable source of iron that is exploited by pathogenic bacteria (By similarity). Also acts as a 3-hydroxybutyrate dehydrogenase (PubMed:16380372). NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Siderophore biosynthesis.;Synthesis and degradation of ketone bodies;Butanoate metabolism;Metabolic pathways;Synthesis of Ketone Bodies PE1 4 +NX_Q9BUT9 MAPK regulated corepressor interacting protein 2 160 17828 9.5 0 Cytoplasm;Stress granule;Nucleus NA NA NA Belongs to the MCRIP family. NA PE1 16 +NX_Q9BUU2 Methyltransferase-like protein 22 404 44486 4.9 0 Nucleoplasm;Nucleus;Nucleolus NA Protein N-lysine methyltransferase. In vitro methylates KIN. NA Belongs to the methyltransferase superfamily. METTL22 family. Protein methylation PE1 16 +NX_Q9BUV0 Arginine/serine-rich protein 1 290 33613 11.76 0 Nucleoplasm NA NA NA Belongs to the RSRP family. NA PE1 1 +NX_Q9BUV8 Uncharacterized protein RAB5IF 137 15487 5.06 0 Cytosol NA NA NA NA NA PE1 20 +NX_Q9BUW7 UPF0184 protein C9orf16 83 9054 4.13 0 Cytoskeleton NA NA NA Belongs to the UPF0184 (EST00098) family. NA PE1 9 +NX_Q9BUX1 Glutathione-specific gamma-glutamylcyclotransferase 1 222 24418 5.05 0 trans-Golgi network;Cytosol;Mitochondrion NA Catalyzes the cleavage of glutathione into 5-oxo-L-proline and a Cys-Gly dipeptide. Acts specifically on glutathione, but not on other gamma-glutamyl peptides (PubMed:27913623). Glutathione depletion is an important factor for apoptosis initiation and execution. Acts as a pro-apoptotic component of the unfolded protein response pathway by mediating the pro-apoptotic effects of the ATF4-ATF3-DDIT3/CHOP cascade (PubMed:19109178). Negative regulator of Notch signaling pathway involved in embryonic neurogenesis: acts by inhibiting Notch cleavage by furin, maintaining Notch in an immature inactive form, thereby promoting neurogenesis in embryos (PubMed:22445366). NA Belongs to the gamma-glutamylcyclotransferase family. ChaC subfamily. Glutathione synthesis and recycling PE1 15 +NX_Q9BUY5 Zinc finger protein 426 554 63106 7.96 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA NA Generic Transcription Pathway PE1 19 +NX_Q9BUY7 EF-hand calcium-binding domain-containing protein 11 163 19225 8.59 0 Cytosol;Cell junction NA NA NA NA NA PE1 14 +NX_Q9BUZ4 TNF receptor-associated factor 4 470 53543 8.54 0 Cytoplasm;Cell membrane;Tight junction;Perinuclear region;Nucleus;Cytoskeleton NA Adapter protein and signal transducer that links members of the tumor necrosis factor receptor (TNFR) family to different signaling pathways. Plays a role in the activation of NF-kappa-B and JNK, and in the regulation of cell survival and apoptosis. Regulates activation of NF-kappa-B in response to signaling through Toll-like receptors. Required for normal skeleton development, and for normal development of the respiratory tract (By similarity). Required for activation of RPS6KB1 in response to TNF signaling. Modulates TRAF6 functions. Polyubiquitinated, leading to its proteasomal degradation. Belongs to the TNF receptor-associated factor family. B subfamily. Pathways in cancer;Small cell lung cancer PE1 17 +NX_Q9BV10 Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase 488 54655 9.63 12 Endoplasmic reticulum;Endoplasmic reticulum membrane Congenital disorder of glycosylation 1G Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. NA Belongs to the glycosyltransferase 22 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein;Defective ALG12 causes ALG12-CDG (CDG-1g) PE1 22 +NX_Q9BV19 Uncharacterized protein C1orf50 199 21877 5.54 0 NA NA NA NA NA NA PE1 1 +NX_Q9BV20 Methylthioribose-1-phosphate isomerase 369 39150 5.89 0 Cytoplasm;Cell projection;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Catalyzes the interconversion of methylthioribose-1-phosphate (MTR-1-P) into methylthioribulose-1-phosphate (MTRu-1-P). Independently from catalytic activity, promotes cell invasion in response to constitutive RhoA activation by promoting FAK tyrosine phosphorylation and stress fiber turnover. NA Belongs to the eIF-2B alpha/beta/delta subunits family. MtnA subfamily. Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; L-methionine from S-methyl-5-thio-alpha-D-ribose 1-phosphate: step 1/6.;Cysteine and methionine metabolism;Metabolic pathways;Methionine salvage pathway PE1 19 +NX_Q9BV23 Monoacylglycerol lipase ABHD6 337 38331 8.67 1 Lysosome membrane;Nucleoplasm;Mitochondrion membrane;Cytoplasmic vesicle;Late endosome membrane NA Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways (By similarity). Also has a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity). Also able to degrade bis(monoacylglycero)phosphate (BMP) and constitutes the major enzyme for BMP catabolism (PubMed:26491015). BMP, also known as lysobisphosphatidic acid, is enriched in late endosomes and lysosomes and plays a key role in the formation of intraluminal vesicles and in lipid sorting (PubMed:26491015). NA Belongs to the AB hydrolase superfamily. Arachidonate production from DAG PE1 3 +NX_Q9BV29 Coiled-coil domain-containing protein 32 185 20656 4.42 0 Cytoplasmic vesicle;Nucleus speckle NA NA NA NA NA PE1 15 +NX_Q9BV35 Calcium-binding mitochondrial carrier protein SCaMC-3 468 52378 6.85 6 Mitochondrion inner membrane;Mitochondrion NA Calcium-dependent mitochondrial solute carrier. Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane (PubMed:15123600). May act as a ATP-Mg/Pi exchanger that mediates the transport of Mg-ATP in exchange for phosphate, catalyzing the net uptake or efflux of adenine nucleotides into or from the mitochondria (PubMed:15123600). Acts as a regulator of mitochondrial calcium uptake via interaction with MCU and MICU1 (PubMed:24430870). NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 19 +NX_Q9BV36 Melanophilin 600 65949 5.73 0 Cytoplasm Griscelli syndrome 3 Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A. NA NA NA PE1 2 +NX_Q9BV38 WD repeat-containing protein 18 432 47405 6.21 0 Nucleoplasm;Cytoplasm;Nucleolus NA Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (PubMed:22872859). Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit (PubMed:21326211). NA Belongs to the WD repeat IPI3/WDR18 family. Major pathway of rRNA processing in the nucleolus and cytosol PE1 19 +NX_Q9BV40 Vesicle-associated membrane protein 8 100 11438 6.73 1 Golgi apparatus;Cell membrane;Lysosome membrane;Nucleoplasm;Early endosome membrane;Late endosome membrane NA SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. VAMP8 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane via its interaction with the STX17-SNAP29 binary t-SNARE complex (PubMed:23217709, PubMed:25686604). Also required for dense-granule secretion in platelets (PubMed:12130530). Plays also a role in regulated enzyme secretion in pancreatic acinar cells (By similarity). Involved in the abscission of the midbody during cell division, which leads to completely separate daughter cells (By similarity). Involved in the homotypic fusion of early and late endosomes (By similarity). NA Belongs to the synaptobrevin family. SNARE interactions in vesicular transport;ER-Phagosome pathway;Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis;Neutrophil degranulation;trans-Golgi Network Vesicle Budding PE1 2 +NX_Q9BV44 THUMP domain-containing protein 3 507 57003 5.97 0 Cytosol;Nucleolus NA NA NA Belongs to the methyltransferase superfamily. NA PE1 3 +NX_Q9BV47 Dual specificity protein phosphatase 26 211 23946 9.66 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Nucleus NA Inactivates MAPK1 and MAPK3 which leads to dephosphorylation of heat shock factor protein 4 and a reduction in its DNA-binding activity. Inhibits MAP kinase p38 by dephosphorylating it and inhibits p38-mediated apoptosis in anaplastic thyroid cancer cells. Can also induce activation of MAP kinase p38 and c-Jun N-terminal kinase (JNK). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. NA PE1 8 +NX_Q9BV57 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase 179 21498 5.43 0 Golgi apparatus;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus NA Catalyzes the formation of formate and 2-keto-4-methylthiobutyrate (KMTB) from 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene). Also down-regulates cell migration mediated by MMP14. Necessary for hepatitis C virus replication in an otherwise non-permissive cell line. NA Belongs to the acireductone dioxygenase (ARD) family. Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; L-methionine from S-methyl-5-thio-alpha-D-ribose 1-phosphate: step 5/6.;Cysteine and methionine metabolism;Metabolic pathways;Methionine salvage pathway PE1 2 +NX_Q9BV68 E3 ubiquitin-protein ligase RNF126 311 33861 5.26 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA E3 ubiquitin-protein ligase that mediates ubiquitination oF target proteins (PubMed:23277564, PubMed:24275455, PubMed:24981174). Depending on the associated E2 ligase, mediates 'Lys-48'- and 'Lys-63'-linked polyubiquitination of substrates (By similarity). Part of a BAG6-dependent quality control process ensuring that proteins of the secretory pathway that are mislocalized to the cytosol are degraded by the proteasome. Probably acts by providing the ubiquitin ligase activity associated with the BAG6 complex and be responsible for ubiquitination of the hydrophobic mislocalized proteins and their targeting to the proteasome (PubMed:24981174, PubMed:29042515). May also play a role in the endosomal recycling of IGF2R, the cation-independent mannose-6-phosphate receptor (PubMed:24275455). May play a role in the endosomal sorting and degradation of several membrane receptors including EGFR, FLT3, MET and CXCR4, by mediating their ubiquitination (PubMed:23418353). By ubiquitinating CDKN1A/p21 and targeting it for degradation, may also promote cell proliferation (PubMed:23026136). May monoubiquitinate AICDA (PubMed:23277564). Ubiquitinated. May undergo autoubiquitination. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 19 +NX_Q9BV73 Centrosome-associated protein CEP250 2442 281137 5 0 Centriole;Photoreceptor inner segment;Photoreceptor outer segment;Cilium basal body;Centrosome;Perinuclear region Cone-rod dystrophy and hearing loss 2 May be involved in ciliogenesis (PubMed:28005958). Probably plays an important role in centrosome cohesion during interphase. Differentially phosphorylated during cell cycle. Phosphorylation may regulate association/dissociation from centrosome. During M phase of mitosis, C-terminal part is phosphorylated by NEK2, suggesting that it may trigger the dissociation from the mitotic centrosome. Dephosphorylated in vitro by the PP1 phosphatase.;CEP250 is phosphorylated by STK3;CEP250 is phosphorylated by NEK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 20 +NX_Q9BV79 Enoyl-[acyl-carrier-protein] reductase, mitochondrial 373 40462 8.99 0 Cytoplasm;Mitochondrion;Nucleus Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities Catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters in mitochondrial fatty acid synthesis (fatty acid synthesis type II). Fatty acid chain elongation in mitochondria uses acyl carrier protein (ACP) as an acyl group carrier, but the enzyme accepts both ACP and CoA thioesters as substrates in vitro. Has a preference for short and medium chain substrates, including trans-2-hexenoyl-CoA (C6), trans-2-decenoyl-CoA (C10), and trans-2-hexadecenoyl-CoA (C16). NA Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily. Fatty acid elongation;Metabolic pathways;Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA PE1 1 +NX_Q9BV81 ER membrane protein complex subunit 6 110 12017 10.08 2 Membrane;Nucleoplasm;Centrosome NA NA NA Belongs to the EMC6 family. NA PE1 17 +NX_Q9BV86 N-terminal Xaa-Pro-Lys N-methyltransferase 1 223 25387 5.32 0 Nucleoplasm;Cytosol;Nucleus NA Distributive alpha-N-methyltransferase that methylates the N-terminus of target proteins containing the N-terminal motif [Ala/Gly/Pro/Ser]-Pro-Lys when the initiator Met is cleaved. Specifically catalyzes mono-, di- or tri-methylation of the exposed alpha-amino group of the Ala, Gly or Ser residue in the [Ala/Gly/Ser]-Pro-Lys motif and mono- or di-methylation of Pro in the Pro-Pro-Lys motif. Some of the substrates may be primed by METTL11B-mediated monomethylation (PubMed:24090352). Catalyzes the trimethylation of the N-terminal Gly in CENPA (after removal of Met-1). Responsible for the N-terminal methylation of KLHL31, MYL2, MYL3, RB1, RCC1, RPL23A and SET. Required during mitosis for normal bipolar spindle formation and chromosome segregation via its action on RCC1. NA Belongs to the methyltransferase superfamily. NTM1 family. NA PE1 9 +NX_Q9BV87 Protein CNPPD1 410 45456 5.47 1 Membrane NA NA NA Belongs to the CNPPD1 family. NA PE1 2 +NX_Q9BV90 U11/U12 small nuclear ribonucleoprotein 25 kDa protein 132 15270 7.75 0 Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA NA NA NA mRNA Splicing - Minor Pathway PE1 16 +NX_Q9BV94 ER degradation-enhancing alpha-mannosidase-like protein 2 578 64753 5.16 0 Endoplasmic reticulum lumen NA Involved in the endoplasmic reticulum-associated degradation (ERAD) pathway that targets misfolded glycoproteins for degradation in an N-glycan-dependent manner (PubMed:15537790, PubMed:25092655). May initiate ERAD by promoting the first mannose trimming step of ERAD substrates, from Man9GlcNAc2 to Man8GlcNAc2 (PubMed:25092655). Seems to recognize and bind to exposed hydrophobic regions in target proteins (By similarity). N-glycosylated. Belongs to the glycosyl hydrolase 47 family. Protein processing in endoplasmic reticulum;ER Quality Control Compartment (ERQC) PE1 20 +NX_Q9BV97 KRAB domain-containing protein ZNF747 191 20610 10.78 0 NA NA NA NA NA Generic Transcription Pathway PE1 16 +NX_Q9BV99 Leucine-rich repeat-containing protein 61 259 28014 4.69 0 Nucleoplasm NA NA NA NA NA PE1 7 +NX_Q9BVA0 Katanin p80 WD40 repeat-containing subunit B1 655 72334 7.51 0 Cytoplasm;Cell membrane;Spindle pole;Centrosome;Cytosol;Spindle;Cytoskeleton Lissencephaly 6, with microcephaly Participates in a complex which severs microtubules in an ATP-dependent manner. May act to target the enzymatic subunit of this complex to sites of action such as the centrosome. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Microtubule release within the cell body of neurons may be required for their transport into neuronal processes by microtubule-dependent motor proteins. This transport is required for axonal growth. NA Belongs to the WD repeat KATNB1 family. NA PE1 16 +NX_Q9BVA1 Tubulin beta-2B chain 445 49953 4.78 0 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 7 Tubulin is the major constituent of microtubules (PubMed:23001566, PubMed:28013290, PubMed:26732629). It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). Plays a critical role in proper axon guidance in both central and peripheral axon tracts (PubMed:23001566). Implicated in neuronal migration (PubMed:19465910). Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).;Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).;Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.;TUBB2B is phosphorylated by PTK6 Belongs to the tubulin family. Phagosome;Gap junction;Pathogenic Escherichia coli infection;Separation of Sister Chromatids;MHC class II antigen presentation;Intraflagellar transport;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Hedgehog 'off' state;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Post-chaperonin tubulin folding pathway;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 6 +NX_Q9BVA6 Protein adenylyltransferase FICD 458 51778 7.31 1 Nucleoplasm;Endoplasmic reticulum membrane NA Protein that can both mediate the addition of adenosine 5'-monophosphate (AMP) to specific residues of target proteins (AMPylation), and the removal of the same modification from target proteins (de-AMPylation), depending on the context (By similarity). The side chain of Glu-231 determines which of the two opposing activities (AMPylase or de-AMPylase) will take place (By similarity). Acts as a key regulator of the ERN1/IRE1-mediated unfolded protein response (UPR) by mediating AMPylation or de-AMPylation of HSPA5/BiP (PubMed:25601083). In unstressed cells, acts as an adenylyltransferase by mediating AMPylation of HSPA5/BiP at 'Thr-518', thereby inactivating it (By similarity). In response to endoplasmic reticulum stress, acts as a phosphodiesterase by mediating removal of ATP (de-AMPylation) from HSPA5/BiP at 'Thr-518', leading to restore HSPA5/BiP activity (By similarity). Although it is able to AMPylate RhoA, Rac and Cdc42 Rho GTPases in vitro, Rho GTPases do not constitute physiological substrates (PubMed:19362538, PubMed:25601083). Auto-AMPylated in vitro; it is unclear whether auto-AMPylation is relevant in vivo.;N-glycosylated; predominantly glycosylated at Asn-275. Belongs to the fic family. NA PE1 12 +NX_Q9BVC3 Sister chromatid cohesion protein DCC1 393 44825 5.05 0 Nucleoplasm;Nucleus NA Loads PCNA onto primed templates regulating velocity, spacing and restart activity of replication forks. May couple DNA replication to sister chromatid cohesion through regulation of the acetylation of the cohesin subunit SMC3. NA Belongs to the DCC1 family. NA PE1 8 +NX_Q9BVC4 Target of rapamycin complex subunit LST8 326 35876 5.5 0 Golgi apparatus;Nucleoplasm;Cell junction;Cytoplasm NA Subunit of both mTORC1 and mTORC2, which regulates cell growth and survival in response to nutrient and hormonal signals. MTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. MTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E). MTORC1 phosphorylates and activates S6K1 at 'Thr-389', which then promotes protein synthesis by phosphorylating PDCD4 and targeting it for degradation. Within mTORC1, LST8 interacts directly with MTOR and enhances its kinase activity. In nutrient-poor conditions, stabilizes the MTOR-RPTOR interaction and favors RPTOR-mediated inhibition of MTOR activity. MTORC2 is also activated by growth factors, but seems to be nutrient-insensitive. MTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. MTORC2 promotes the serum-induced formation of stress-fibers or F-actin. MTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDK1 which is a prerequisite for full activation. MTORC2 regulates the phosphorylation of SGK1 at 'Ser-422'. MTORC2 also modulates the phosphorylation of PRKCA on 'Ser-657'. NA Belongs to the WD repeat LST8 family. mTOR signaling pathway;Macroautophagy;PIP3 activates AKT signaling;VEGFR2 mediated vascular permeability;CD28 dependent PI3K/Akt signaling;HSF1-dependent transactivation;TP53 Regulates Metabolic Genes;Energy dependent regulation of mTOR by LKB1-AMPK;Constitutive Signaling by AKT1 E17K in Cancer;mTOR signalling;mTORC1-mediated signalling;Regulation of TP53 Degradation;Regulation of PTEN gene transcription PE1 16 +NX_Q9BVC5 Ashwin 232 25858 9.76 0 Cytoplasm;Nucleoplasm;Mitochondrion NA NA NA Belongs to the ashwin family. tRNA processing in the nucleus PE1 2 +NX_Q9BVC6 Transmembrane protein 109 243 26210 10.48 3 Nucleus outer membrane;Endoplasmic reticulum membrane;Nucleus membrane;Cytosol;Sarcoplasmic reticulum membrane NA May mediate cellular response to DNA damage by protecting against ultraviolet C-induced cell death (PubMed:23542032). Can form voltage-gated calcium and potassium channels in vitro (By similarity). NA NA NA PE1 11 +NX_Q9BVG3 E3 ubiquitin-protein ligase TRIM62 475 54268 6.17 0 Cytoplasm;Focal adhesion;Cytoplasmic vesicle NA E3 ubiquitin ligase whose activity is dependent on E2 ubiquitin-conjugating enzyme UBE2D2. Polyubiquitinated, autoubiquitinated in the presence of UBE2D2. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Interferon gamma signaling PE1 1 +NX_Q9BVG4 Protein PBDC1 233 26057 4.72 0 Cytoplasm;Nucleoplasm;Nucleolus;Cytosol NA NA NA Belongs to the PBDC1 family. NA PE1 X +NX_Q9BVG8 Kinesin-like protein KIFC3 833 92775 7.62 0 Cytoplasmic vesicle membrane;Adherens junction;Centrosome NA Minus-end microtubule-dependent motor protein. Involved in apically targeted transport (By similarity). Required for zonula adherens maintenance. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Association of TriC/CCT with target proteins during biosynthesis PE1 16 +NX_Q9BVG9 Phosphatidylserine synthase 2 487 56253 5.86 7 Endoplasmic reticulum membrane NA Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. PTDSS2 is specific for phosphatatidylethanolamine and does not act on phosphatidylcholine. NA Belongs to the phosphatidyl serine synthase family. Phospholipid metabolism; phosphatidylserine biosynthesis.;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PS PE1 11 +NX_Q9BVH7 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 336 38443 9.56 1 Cytoplasmic vesicle;Golgi apparatus membrane NA Involved in the biosynthesis of ganglioside GD1a from GM1b. It exhibits higher activity with glycolipids than with glycoproteins (By similarity). NA Belongs to the glycosyltransferase 29 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - ganglio series;Metabolic pathways;Sialic acid metabolism PE1 1 +NX_Q9BVI0 PHD finger protein 20 1012 115386 6.55 0 Nucleoplasm;Cytosol;Nucleus membrane;Nucleus NA Methyllysine-binding protein, component of the MOF histone acetyltransferase protein complex. Not required for maintaining the global histone H4 'Lys-16' acetylation (H4K16ac) levels or locus specific histone acetylation, but instead works downstream in transcriptional regulation of MOF target genes (By similarity). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. Contributes to methyllysine-dependent p53/TP53 stabilization and up-regulation after DNA damage. NA NA HATs acetylate histones;Stabilization of p53;Regulation of TP53 Degradation;Regulation of TP53 Activity through Association with Co-factors PE1 20 +NX_Q9BVI4 Nucleolar complex protein 4 homolog 516 58468 7.08 3 Nucleoplasm;Nucleolus;Nucleus membrane NA NA NA Belongs to the CBF/MAK21 family. rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 12 +NX_Q9BVJ6 U3 small nucleolar RNA-associated protein 14 homolog A 771 87978 7.67 0 Nucleolus NA May be required for ribosome biogenesis. Citrullinated by PADI4. Belongs to the UTP14 family. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 X +NX_Q9BVJ7 Dual specificity protein phosphatase 23 150 16588 8.44 0 Nucleoplasm;Cytosol;Nucleus NA Protein phosphatase that mediates dephosphorylation of proteins phosphorylated on Tyr and Ser/Thr residues. In vitro, it can dephosphorylate p44-ERK1 (MAPK3) but not p54 SAPK-beta (MAPK10) in vitro. Able to enhance activation of JNK and p38 (MAPK14). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. NA PE1 1 +NX_Q9BVK2 Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase 526 60088 9.28 11 Nucleoplasm;Endoplasmic reticulum membrane Polycystic liver disease 3 with or without kidney cysts;Congenital disorder of glycosylation 1H Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(1)Man(9)GlcNAc(2)-PP-Dol before it is transferred to the nascent peptide (By similarity). Required for PKD1/Polycystin-1 maturation and localization to the plasma membrane of the primary cilia (By similarity). NA Belongs to the ALG6/ALG8 glucosyltransferase family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein;Defective ALG8 causes ALG8-CDG (CDG-1h) PE1 11 +NX_Q9BVK6 Transmembrane emp24 domain-containing protein 9 235 27277 7.81 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;trans-Golgi network membrane;Endoplasmic reticulum membrane;cis-Golgi network membrane NA Appears to be involved in vesicular protein trafficking, mainly in the early secretory pathway. In COPI vesicle-mediated retrograde transport involved in the coatomer recruitment to membranes of the early secretory pathway. Increases coatomer-dependent activity of ARFGAP2. Thought to play a crucial role in the specific retention of p24 complexes in cis-Golgi membranes; specifically contributes to the coupled localization of TMED2 and TMED10 in the cis-Golgi network. May be involved in organization of intracellular membranes, such as of the ER-Golgi intermediate compartment and the Golgi apparatus. Involved in ER localization of PTPN2 isoform PTPB. N-linked glycosylated containing high mannose. Belongs to the EMP24/GP25L family. COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 5 +NX_Q9BVK8 Transmembrane protein 147 224 25261 7.61 6 Golgi apparatus;Endoplasmic reticulum membrane;Cytoskeleton NA NA NA NA NA PE1 19 +NX_Q9BVL2 Nucleoporin p58/p45 599 60897 9.36 0 Nucleus membrane;Nuclear pore complex NA Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane. O-glycosylated. Belongs to the NUP58 family. RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 13 +NX_Q9BVL4 Protein adenylyltransferase SelO, mitochondrial 669 73489 5.69 0 Mitochondrion NA Catalyzes the transfer of adenosine 5'-monophosphate (AMP) to Ser, Thr and Tyr residues of target proteins (AMPylation) (PubMed:30270044). May be a redox-active mitochondrial selenoprotein which interacts with a redox target protein (PubMed:24751718). NA Belongs to the SELO family. NA PE1 22 +NX_Q9BVM2 Protein DPCD 203 23240 9.11 0 Nucleus speckle NA May play a role in the formation or function of ciliated cells. NA Belongs to the DPCD family. NA PE1 10 +NX_Q9BVM4 Gamma-glutamylaminecyclotransferase 153 17329 6.37 0 NA NA Contributes to degradation of proteins cross-linked by transglutaminases by degrading the cross-link between a lysine and a glutamic acid residue. Catalyzes the formation of 5-oxo-L-proline from L-gamma-glutamyl-L-epsilon-lysine. Inactive with L-gamma-glutamyl-alpha-amino acid substrates such as L-gamma-glutamyl-L-alpha-cysteine and L-gamma-glutamyl-L-alpha-alanine. NA Belongs to the gamma-glutamylcyclotransferase family. NA PE1 13 +NX_Q9BVN2 RUN and SH3 domain-containing protein 1 902 96444 5.9 0 Golgi apparatus;Cytoplasm;Early endosome;Postsynaptic density;Cytoplasmic vesicle;Cytosol;Nucleus;Cytoskeleton NA Putative signaling adapter which may play a role in neuronal differentiation. May be involved in regulation of NGF-dependent neurite outgrowth. Proposed to play a role in neuronal vesicular trafficking, specifically involving pre-synaptic membrane proteins. Seems to be involved in signaling pathways that are regulated by the prolonged activation of MAPK. Can regulate the polyubiquitination of IKBKG and thus may be involved in regulation of the NF-kappa-B pathway. Polyubiquitinated; polyubiquitination involves TRAF6.;Phosphorylated on serine residues following nuclear translocation. NA NA PE1 1 +NX_Q9BVP2 Guanine nucleotide-binding protein-like 3 549 61993 9.23 0 Nucleolus;Nucleus NA May be required to maintain the proliferative capacity of stem cells. Stabilizes MDM2 by preventing its ubiquitination, and hence proteasomal degradation (By similarity). NA Belongs to the TRAFAC class YlqF/YawG GTPase family. Ribosome biogenesis in eukaryotes;Major pathway of rRNA processing in the nucleolus and cytosol PE1 3 +NX_Q9BVQ7 Spermatogenesis-associated protein 5-like protein 1 753 80710 8.42 0 Cytoplasm;Nucleoplasm;Nucleolus NA NA NA Belongs to the AAA ATPase family. AFG2 subfamily. NA PE1 15 +NX_Q9BVR0 Putative HERC2-like protein 3 1158 128943 6.45 0 NA NA NA NA NA NA PE5 15 +NX_Q9BVS4 Serine/threonine-protein kinase RIO2 552 63283 5.66 0 Cytoplasm;Cytosol;Cell membrane NA Serine/threonine-protein kinase involved in the final steps of cytoplasmic maturation of the 40S ribosomal subunit. Involved in export of the 40S pre-ribosome particles (pre-40S) from the nucleus to the cytoplasm. Its kinase activity is required for the release of NOB1, PNO1 and LTV1 from the late pre-40S and the processing of 18S-E pre-rRNA to the mature 18S rRNA (PubMed:19564402). Regulates the timing of the metaphase-anaphase transition during mitotic progression, and its phosphorylation, most likely by PLK1, regulates this function (PubMed:21880710). Autophosphorylated (in vitro) (PubMed:19564402, PubMed:21880710). Phosphorylation at Ser-335, Ser-380, Ser-548 by PLK1 affects the timing of the metaphase-anaphase transition (PubMed:21880710). Belongs to the protein kinase superfamily. RIO-type Ser/Thr kinase family. Ribosome biogenesis in eukaryotes;Major pathway of rRNA processing in the nucleolus and cytosol PE1 5 +NX_Q9BVS5 tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial 477 52965 6.17 0 Cytosol;Mitochondrion NA Methyltransferase that catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in various tRNAs in mitochondrion, including tRNA(Leu) (deciphering codons UUA or UUG), tRNA(Lys) and tRNA(Ser) (deciphering codons UCA, UCU, UCG or UCC) (PubMed:23097428). Catalyzes the formation of 1-methyladenosine at position 947 of mitochondrial 16S ribosomal RNA and this modification is most likely important for mitoribosomal structure and function (PubMed:27631568). In addition to tRNA N(1)-methyltransferase activity, also acts as a mRNA N(1)-methyltransferase by mediating methylation of adenosine residues at the N(1) position of MT-ND5 mRNA, leading to interfere with mitochondrial translation (PubMed:29107537). NA Belongs to the class I-like SAM-binding methyltransferase superfamily. TRM61 family. tRNA modification in the mitochondrion PE1 2 +NX_Q9BVT8 Transmembrane and ubiquitin-like domain-containing protein 1 246 26261 5.44 3 Cytoplasm;Postsynaptic cell membrane;Recycling endosome;Nucleolus;Membrane;Nucleoplasm;Centrosome;Cytosol;Nucleus NA IHOPS: May contribute to the regulation of translation during cell-cycle progression. May contribute to the regulation of cell proliferation (By similarity). May be involved in centrosome assembly. Modulates stabilization and nucleolar localization of tumor suppressor CDKN2A and enhances association between CDKN2A and NPM1 (By similarity).;Involved in sterol-regulated ubiquitination and degradation of HMG-CoA reductase HMGCR (PubMed:21343306). Involved in positive regulation of AMPA-selective glutamate receptor GRIA2 recycling to the cell surface (By similarity). Acts as negative regulator of hepatocyte growth during regeneration (By similarity). IHOPS: Processed by regulated intramembrane proteolysis (RIP)in the N-terminus to release iHOPS from membranes (By similarity). NA NA PE1 7 +NX_Q9BVV2 Fibronectin type III domain-containing protein 11 318 36526 8.82 0 Nucleoplasm;Cytosol;Cytoplasmic vesicle NA NA NA NA NA PE1 20 +NX_Q9BVV6 Protein TALPID3 1533 169307 5.37 0 Centriole;Photoreceptor inner segment;Cilium basal body;Nucleoplasm;Centrosome;Cytosol Short-rib thoracic dysplasia 14 with polydactyly;Joubert syndrome 23 Required for ciliogenesis and sonic hedgehog/SHH signaling. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. May play a role in early ciliogenesis in the disappearance of centriolar satellites that preceeds ciliary vesicle formation (PubMed:24421332). Involved in regulation of cell intracellular organization. Involved in regulation of cell polarity (By similarity). Required for asymmetrical localization of CEP120 to daughter centrioles (By similarity). NA Belongs to the TALPID3 family. NA PE1 14 +NX_Q9BVV7 Mitochondrial import inner membrane translocase subunit Tim21 248 28202 9.73 1 Mitochondrion membrane NA Participates in the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Also required for assembly of mitochondrial respiratory chain complex I and complex IV as component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex. Probably shuttles between the presequence translocase and respiratory-chain assembly intermediates in a process that promotes incorporation of early nuclear-encoded subunits into these complexes. NA Belongs to the TIM21 family. Mitochondrial protein import PE1 18 +NX_Q9BVV8 Protein FAM174C 132 14249 9.23 1 Membrane;Golgi apparatus;Nucleus speckle NA NA NA Belongs to the FAM174 family. NA PE1 19 +NX_Q9BVW5 TIMELESS-interacting protein 301 34555 4.73 0 Cytoplasm;Nucleus NA Plays an important role in the control of DNA replication and the maintenance of replication fork stability. Important for cell survival after DNA damage or replication stress. May be specifically required for the ATR-CHEK1 pathway in the replication checkpoint induced by hydroxyurea or ultraviolet light. Forms a complex with TIMELESS and this complex regulates DNA replication processes under both normal and stress conditions, stabilizes replication forks and influences both CHEK1 phosphorylation and the intra-S phase checkpoint in response to genotoxic stress. NA Belongs to the CSM3 family. Processing of DNA double-strand break ends PE1 15 +NX_Q9BVW6 Small integral membrane protein 2 85 9520 5.19 1 Membrane;Nucleoplasm;Nucleus NA NA NA NA NA PE1 13 +NX_Q9BVX2 Transmembrane protein 106C 250 27875 6.3 2 Membrane;Endoplasmic reticulum membrane NA NA NA Belongs to the TMEM106 family. NA PE1 12 +NX_Q9BW04 Specifically androgen-regulated gene protein 601 63964 8.78 0 Cytoplasm;Cytosol;Cell membrane NA Putative androgen-specific receptor. NA Belongs to the SARG family. NA PE1 1 +NX_Q9BW11 Max dimerization protein 3 206 23477 9.32 0 Nucleoplasm;Nucleolus;Nucleus NA Transcriptional repressor. Binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. Antagonizes MYC transcriptional activity by competing for MAX and suppresses MYC dependent cell transformation (By similarity). NA NA NA PE1 5 +NX_Q9BW19 Kinesin-like protein KIFC1 673 73748 9.15 0 Early endosome;Spindle;Centrosome;Nucleus NA Minus end-directed microtubule-dependent motor required for bipolar spindle formation (PubMed:15843429). May contribute to movement of early endocytic vesicles (By similarity). Regulates cilium formation and structure (By similarity). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. NCD subfamily. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 6 +NX_Q9BW27 Nuclear pore complex protein Nup85 656 75019 5.36 0 Cytoplasm;Nuclear pore complex;Nucleus membrane;Nucleoplasm;Cytosol;Spindle;Kinetochore Nephrotic syndrome 17 Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance (PubMed:12718872). As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP96/Nup98 and NUP153 to the nucleus (PubMed:12718872). The Nup107-160 complex seems to be required for spindle assembly during mitosis (PubMed:16807356). NUP85 is required for membrane clustering of CCL2-activated CCR2 (PubMed:15995708). Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl-inositol 3-kinase-Rac-lammellipodium protrusion cascade (PubMed:15995708). Involved in nephrogenesis (PubMed:30179222). NA Belongs to the nucleoporin Nup85 family. RNA transport;Separation of Sister Chromatids;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 17 +NX_Q9BW30 Tubulin polymerization-promoting protein family member 3 176 18985 9.19 0 Nucleolus;Cytoskeleton NA Binds tubulin and has microtubule bundling activity. May play a role in cell proliferation and mitosis. NA Belongs to the TPPP family. NA PE1 16 +NX_Q9BW60 Elongation of very long chain fatty acids protein 1 279 32663 9.62 7 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that exhibits activity toward saturated and monounsaturated acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis. Indirectly inhibits RPE65 via production of VLCFAs. NA Belongs to the ELO family. ELOVL1 subfamily. Lipid metabolism; fatty acid biosynthesis.;Fatty acid elongation;Synthesis of very long-chain fatty acyl-CoAs;Linoleic acid (LA) metabolism;alpha-linolenic acid (ALA) metabolism PE1 1 +NX_Q9BW61 DET1- and DDB1-associated protein 1 102 11835 8.73 0 Nucleoplasm;Nucleolus NA May be involved in ubiquitination and subsequent proteasomal degradation of target proteins. Component of the DDD-E2 complexes which may provide a platform for interaction with CUL4A and WD repeat proteins. NA Belongs to the DDA1 family. Neddylation PE1 19 +NX_Q9BW62 Katanin p60 ATPase-containing subunit A-like 1 490 55392 6.35 0 Cytoplasm;Nucleoplasm;Spindle pole;Cytosol;Spindle;Cytoskeleton NA Regulates microtubule dynamics in Sertoli cells, a process that is essential for spermiogenesis and male fertility. Severs microtubules in an ATP-dependent manner, promoting rapid reorganization of cellular microtubule arrays (By similarity). Has microtubule-severing activity in vitro (PubMed:26929214). NA Belongs to the AAA ATPase family. Katanin p60 subunit A1 subfamily. A-like 1 sub-subfamily. NA PE1 13 +NX_Q9BW66 Cyclin-dependent kinase 2-interacting protein 212 24324 5.87 0 Nucleus NA Interacts with the components of the replication complex and 2 kinases, CDK2 and CDC7, thereby providing a functional and physical link between CDK2 and CDC7 during firing of the origins of replication. Regulates ATR-mediated checkpoint signaling. Phosphorylated by CDC7 but not by CDK2. Belongs to the CINP family. NA PE1 14 +NX_Q9BW71 HIRA-interacting protein 3 556 61957 8.71 0 Nucleoplasm;Nucleus NA May play a role in chromatin function and histone metabolism via its interaction with HIRA and histones. Phosphorylated by CK2. NA NA PE1 16 +NX_Q9BW72 HIG1 domain family member 2A, mitochondrial 106 11529 10.21 2 Mitochondrion membrane;Mitochondrion inner membrane NA Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May be involved in cytochrome c oxidase activity. May play a role in the assembly of respiratory supercomplexes. NA NA NA PE1 5 +NX_Q9BW83 Intraflagellar transport protein 27 homolog 186 20480 5.28 0 Cytoplasm;Mitochondrion;Cilium;Nucleoplasm;Flagellum Bardet-Biedl syndrome 19 Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6 (PubMed:25443296). Not involved in entry of the BBSome complex into cilium. Prevents aggregation of GTP-free ARL6 (PubMed:25443296). Required for hedgehog signaling. Forms a subcomplex within the IFT complex B with IFT25. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation (By similarity). NA Belongs to the small GTPase superfamily. Rab family. Intraflagellar transport PE1 22 +NX_Q9BW85 Splicing factor YJU2 323 37086 5.75 0 Nucleoplasm;Nucleus NA Part of the spliceosome which catalyzes two sequential transesterification reactions, first the excision of the non-coding intron from pre-mRNA and then the ligation of the coding exons to form the mature mRNA (PubMed:29301961). Plays a role in stabilizing the structure of the spliceosome catalytic core and docking of the branch helix into the active site, producing 5'-exon and lariat intron-3'-intermediates (By similarity). May protect cells from TP53-dependent apoptosis upon dsDNA break damage through association with PRP19-CD5L complex (PubMed:22952453). NA Belongs to the CWC16 family. YJU2 subfamily. NA PE1 19 +NX_Q9BW91 ADP-ribose pyrophosphatase, mitochondrial 350 39125 8.26 0 Nucleus membrane;Cell junction;Mitochondrion;Nucleus NA Hydrolyzes ADP-ribose (ADPR) to AMP and ribose 5'-phosphate. NA Belongs to the Nudix hydrolase family. NudF subfamily. Purine metabolism;Phosphate bond hydrolysis by NUDT proteins PE1 4 +NX_Q9BW92 Threonine--tRNA ligase, mitochondrial 718 81036 6.9 0 Nucleoplasm;Mitochondrion matrix;Cytosol;Cytoskeleton Combined oxidative phosphorylation deficiency 21 Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain. NA Belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation PE1 1 +NX_Q9BWC9 Coiled-coil domain-containing protein 106 280 32032 9.47 0 Nucleoplasm;Cytosol;Nucleus NA Promotes the degradation of p53/TP53 protein and inhibits its transactivity. NA NA NA PE1 19 +NX_Q9BWD1 Acetyl-CoA acetyltransferase, cytosolic 397 41351 6.47 0 Nucleoplasm;Cytosol NA Involved in the biosynthetic pathway of cholesterol. NA Belongs to the thiolase-like superfamily. Thiolase family. Lipid metabolism; fatty acid metabolism.;Fatty acid metabolism;Synthesis and degradation of ketone bodies;Valine, leucine and isoleucine degradation;Lysine degradation;Tryptophan metabolism;Pyruvate metabolism;Glyoxylate and dicarboxylate metabolism;Propanoate metabolism;Butanoate metabolism;Terpenoid backbone biosynthesis;Metabolic pathways;Fat digestion and absorption;Cholesterol biosynthesis PE1 6 +NX_Q9BWD3 Retrotransposon Gag-like protein 8A 113 13188 4.94 0 NA NA NA NA Belongs to the FAM127 family. NA PE1 X +NX_Q9BWE0 Replication initiator 1 567 63575 10.05 0 Nucleoplasm;Nucleus NA Sequence-specific double-stranded DNA-binding protein required for initiation of chromosomal DNA replication. Binds on 5'-ATT-3' reiterated sequences downstream of the origin of bidirectional replication (OBR) and a second, homologous ATT sequence of opposite orientation situated within the OBR zone. Facilitates DNA bending. NA NA NA PE1 7 +NX_Q9BWF2 E3 ubiquitin-protein ligase TRAIP 469 53294 8.75 0 Cytoplasm;Cell membrane;Nucleolus;Cytosol;Perinuclear region;Nucleus Seckel syndrome 9 E3 ubiquitin ligase acting as a negative regulator of innate immune signaling. Inhibits activation of NF-kappa-B mediated by TNF. Negatively regulates TLR3/4- and RIG-I-mediated IRF3 activation and subsequent IFNB1 production and cellular antiviral response by promoting 'Lys-48'-linked polyubiquitination of TNK1 leading to its proteasomal degradation (By similarity) (PubMed:22945920). Involved in response to genotoxic lesions during genome replication. Promotes H2AX and RPA2 phosphorylation after replication-associated DNA damage and assists fork progression at UV-induced replication-blocking lesions during S phase (PubMed:26595769). Has also been proposed to play a role in promoting translesion synthesis by mediating the assembly of 'Lys-63'-linked poly-ubiquitin chains on the Y-family polymerase POLN in order to facilitate bypass of DNA lesions and preserve genomic integrity (PubMed:24553286). The function in translesion synthesis is controversial (PubMed:26595769). Autoubiquitinated. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 3 +NX_Q9BWF3 RNA-binding protein 4 364 40314 6.61 0 Cytoplasm;Nucleus speckle;Nucleolus;Cytoplasmic granule;Nucleus NA RNA-binding factor involved in multiple aspects of cellular processes like alternative splicing of pre-mRNA and translation regulation. Modulates alternative 5'-splice site and exon selection. Acts as a muscle cell differentiation-promoting factor. Activates exon skipping of the PTB pre-mRNA during muscle cell differentiation. Antagonizes the activity of the splicing factor PTBP1 to modulate muscle cell-specific exon selection of alpha tropomyosin. Binds to intronic pyrimidine-rich sequence of the TPM1 and MAPT pre-mRNAs. Required for the translational activation of PER1 mRNA in response to circadian clock. Binds directly to the 3'-UTR of the PER1 mRNA. Exerts a suppressive activity on Cap-dependent translation via binding to CU-rich responsive elements within the 3'UTR of mRNAs, a process increased under stress conditions or during myocytes differentiation. Recruits EIF4A1 to stimulate IRES-dependent translation initiation in respons to cellular stress. Associates to internal ribosome entry segment (IRES) in target mRNA species under stress conditions. Plays a role for miRNA-guided RNA cleavage and translation suppression by promoting association of AGO2-containing miRNPs with their cognate target mRNAs. Associates with miRNAs during muscle cell differentiation. Binds preferentially to 5'-CGCGCG[GCA]-3' motif in vitro. Phosphorylation on Ser-309 is induced upon cell muscle differentiation (By similarity). Phosphorylated. Phosphorylated in vitro on Ser-309 by SRPK1. Phosphorylation on Ser-309 is induced upon cell stress signaling, which alters its subcellular localization and may modulate its activity on IRES-mediated mRNA translation. NA Circadian Clock PE1 11 +NX_Q9BWG4 Single-stranded DNA-binding protein 4 385 39388 6.3 0 Nucleus NA NA NA NA NA PE1 19 +NX_Q9BWG6 Sodium channel modifier 1 230 25949 9.03 0 Nucleoplasm;Nucleus speckle NA Plays a role in alternative splicing of pre-mRNAs, possibly by contributing to the selection of non-consensus donor sites. NA NA NA PE1 1 +NX_Q9BWH2 FUN14 domain-containing protein 2 189 20676 9.74 0 Mitochondrion NA NA NA Belongs to the FUN14 family. NA PE1 X +NX_Q9BWH6 RNA polymerase II-associated protein 1 1393 152755 5.95 0 Nucleoplasm;Cytosol;Nucleus NA Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. Required for interaction of the RNA polymerase II complex with acetylated histone H3. NA Belongs to the RPAP1 family. NA PE1 15 +NX_Q9BWJ2 Putative uncharacterized protein encoded by RHPN1-AS1 59 6658 6.1 0 NA NA NA NA NA NA PE5 8 +NX_Q9BWJ5 Splicing factor 3B subunit 5 86 10135 5.89 0 Nucleoplasm;Nucleus NA Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex, a constituent of the spliceosome (PubMed:27720643, PubMed:28781166). SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). NA Belongs to the SF3B5 family. Spliceosome;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway PE1 6 +NX_Q9BWK5 Cell cycle regulator of non-homologous end joining 157 16829 5.16 0 Cytoplasm;Nucleus NA Cell-cycle-specific inhibitor of classical non-homologous end joining (NHEJ) of DNA double-strand break (DSB) repair during the S and G2 phases (PubMed:28959974). Acts as a regulator of DNA repair pathway choice by specifically inhibiting classical NHEJ during the S and G2 phases, thereby promoting error-free repair by homologous recombination during cell cycle phases when sister chromatids are present (PubMed:28959974). Preferentially protects single-stranded overhangs at break sites by inhibiting classical NHEJ, thereby creating a local environment that favors homologous recombination (PubMed:28959974). Acts via interaction with XRCC5/Ku80 and XRCC6/Ku70, interaction restricted during the S and G2 phases only (PubMed:28959974). Molecular mechanisms governing classical NHEJ inhibition via interaction with XRCC5/Ku80 and XRCC6/Ku70 are unknown (PubMed:28959974). May act as a regulator of proteasome (By similarity).;Cell-cycle-specific inhibitor of classical non-homologous end joining (NHEJ) of DNA double-strand break (DSB) repair during the S and G2 phases (PubMed:24610814, PubMed:28959974). Acts as a regulator of DNA repair pathway choice by specifically inhibiting classical NHEJ during the S and G2 phases, thereby promoting error-free repair by homologous recombination during cell cycle phases when sister chromatids are present (PubMed:28959974). Preferentially protects single-stranded overhangs at break sites by inhibiting classical NHEJ, thereby creating a local environment that favors homologous recombination (PubMed:28959974). Acts via interaction with XRCC5/Ku80 and XRCC6/Ku70, interaction restricted during the S and G2 phases only (PubMed:28959974). Molecular mechanisms governing classical NHEJ inhibition via interaction with XRCC5/Ku80 and XRCC6/Ku70 are unknown (PubMed:28959974). NA NA NA PE1 7 +NX_Q9BWL3 Uncharacterized protein C1orf43 253 28779 9.61 1 Membrane NA NA NA NA NA PE1 1 +NX_Q9BWM5 Zinc finger protein 416 594 67188 8.33 0 Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9BWM7 Sideroflexin-3 321 35503 9.26 4 Mitochondrion membrane;Mitochondrion NA Mitochondrial serine transporter that mediates transport of serine into mitochondria, an important step of the one-carbon metabolism pathway (PubMed:30442778). Mitochondrial serine is converted to glycine and formate, which then exits to the cytosol where it is used to generate the charged folates that serve as one-carbon donors (PubMed:30442778). NA Belongs to the sideroflexin family. NA PE1 10 +NX_Q9BWN1 Proline-rich protein 14 585 64328 10.35 0 Nucleus lamina;Nucleoplasm;Nucleus;Chromosome NA Functions in tethering peripheral heterochromatin to the nuclear lamina during interphase, possibly through the interaction with heterochromatin protein CBX5/HP1 alpha (PubMed:24209742). Might play a role in reattaching heterochromatin to the nuclear lamina at mitotic exit (PubMed:24209742). Promotes myoblast differentiation during skeletal myogenesis, possibly by stimulating transcription factor MyoD activity via binding to CBX5/HP1 alpha (PubMed:25906157). Involved in the positive regulation of the PI3K-Akt-mTOR signaling pathway and in promoting cell proliferation, possibly via binding to GRB2 (PubMed:27041574). NA NA NA PE1 16 +NX_Q9BWP8 Collectin-11 271 28665 5.26 0 Secreted 3MC syndrome 2 Lectin that plays a role in innate immunity, apoptosis and embryogenesis (PubMed:23954398, PubMed:25912189, PubMed:21258343). Calcium-dependent lectin that binds self and non-self glycoproteins presenting high mannose oligosaccharides with at least one terminal alpha-1,2-linked mannose epitope (PubMed:25912189). Primarily recognizes the terminal disaccharide of the glycan (PubMed:25912189). Also recognizes a subset of fucosylated glycans and lipopolysaccharides (PubMed:17179669, PubMed:25912189). Plays a role in innate immunity through its ability to bind non-self sugars presented by microorganisms and to activate the complement through the recruitment of MAPS1 (PubMed:20956340, PubMed:25912189). Also plays a role in apoptosis through its ability to bind in a calcium-independent manner the DNA present at the surface of apoptotic cells and to activate the complement in response to this binding (Probable). Finally, plays a role in development, probably serving as a guidance cue during the migration of neural crest cells and other cell types during embryogenesis (PubMed:21258343, PubMed:28301481). NA Belongs to the COLEC10/COLEC11 family. Phagosome;Scavenging by Class A Receptors;Initial triggering of complement;Lectin pathway of complement activation PE1 2 +NX_Q9BWQ6 Protein YIPF2 316 35151 5.43 5 Golgi apparatus;Mitochondrion;cis-Golgi network membrane;trans-Golgi network membrane;Late endosome membrane NA NA NA Belongs to the YIP1 family. NA PE1 19 +NX_Q9BWQ8 Protein lifeguard 2 316 35110 6.06 7 Postsynaptic cell membrane;Membrane raft;Cytoskeleton;Cell membrane NA Antiapoptotic protein which protects cells uniquely from Fas-induced apoptosis. Regulates Fas-mediated apoptosis in neurons by interfering with caspase-8 activation. May play a role in cerebellar development by affecting cerebellar size, internal granular layer (IGL) thickness, and Purkinje cell (PC) development. NA Belongs to the BI1 family. LFG subfamily. NA PE1 12 +NX_Q9BWS9 Chitinase domain-containing protein 1 393 44941 8.74 0 Nucleoplasm;Secreted;Cytoskeleton;Lysosome NA Saccharide- and LPS-binding protein with possible roles in pathogen sensing and endotoxin neutralization. Ligand-binding specificity relates to the length of the oligosaccharides, with preference for chitotetraose (in vitro). NA Belongs to the glycosyl hydrolase 18 family. Platelet degranulation PE1 11 +NX_Q9BWT1 Cell division cycle-associated protein 7 371 42573 9.57 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus Immunodeficiency-centromeric instability-facial anomalies syndrome 3 Participates in MYC-mediated cell transformation and apoptosis; induces anchorage-independent growth and clonogenicity in lymphoblastoid cells. Insufficient to induce tumorigenicity when overexpressed but contributes to MYC-mediated tumorigenesis. May play a role as transcriptional regulator. Phosphorylation at Thr-163 promotes interaction with YWHAE and YWHAZ, dissociation from MYC and sequestration in the cytoplasm. In vitro, phosphorylated at Thr-163 by AKT. NA NA PE1 2 +NX_Q9BWT3 Poly(A) polymerase gamma 736 82803 9.21 0 Nucleoplasm;Nucleus NA Responsible for the post-transcriptional adenylation of the 3'-terminal of mRNA precursors and several small RNAs including signal recognition particle (SRP) RNA, nuclear 7SK RNA, U2 small nuclear RNA, and ribosomal 5S RNA. NA Belongs to the poly(A) polymerase family. mRNA surveillance pathway PE1 2 +NX_Q9BWT6 Meiotic nuclear division protein 1 homolog 205 23753 8.28 0 Nucleus NA Required for proper homologous chromosome pairing and efficient cross-over and intragenic recombination during meiosis (By similarity). Stimulates both DMC1- and RAD51-mediated homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks. NA Belongs to the MND1 family. Meiotic recombination PE1 4 +NX_Q9BWT7 Caspase recruitment domain-containing protein 10 1032 115931 5.74 0 Cytoplasmic vesicle;Cytoplasm;Cytosol;Cytoskeleton NA Activates NF-kappa-B via BCL10 and IKK. NA NA NA PE1 22 +NX_Q9BWU0 Kanadaptin 796 88814 5.11 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA NA NA NA NA PE1 2 +NX_Q9BWU1 Cyclin-dependent kinase 19 502 56802 8.66 0 Nucleoplasm;Cytoplasmic vesicle NA NA NA Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 6 +NX_Q9BWV1 Brother of CDO 1114 121059 6.58 1 Nucleoplasm;Cell membrane NA Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells. N-glycosylated. NA Activation of SMO;Ligand-receptor interactions;Myogenesis PE1 3 +NX_Q9BWV2 Spermatogenesis-associated protein 9 254 28740 9.53 1 Membrane;Mitochondrion NA May play a role in testicular development/spermatogenesis and may be an important factor in male infertility. NA NA NA PE1 5 +NX_Q9BWV3 Cytidine and dCMP deaminase domain-containing protein 1 514 58455 8.34 0 Nucleoplasm NA May play an important role in testicular development and spermatogenesis. NA Belongs to the cytidine and deoxycytidylate deaminase family. NA PE1 13 +NX_Q9BWV7 Probable tubulin polyglutamylase TTLL2 592 67336 9 0 Nucleolus;Nucleus membrane NA Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Probably acts when complexed with other proteins (By similarity). NA Belongs to the tubulin--tyrosine ligase family. Carboxyterminal post-translational modifications of tubulin PE1 6 +NX_Q9BWW4 Single-stranded DNA-binding protein 3 388 40421 6.4 0 Nucleus NA May be involved in transcription regulation of the alpha 2(I) collagen gene where it binds to the single-stranded polypyrimidine sequences in the promoter region. NA NA NA PE1 1 +NX_Q9BWW7 Transcriptional repressor scratch 1 348 35570 9.56 0 Nucleus NA Transcriptional repressor that binds E-box motif CAGGTG. Can modulate the action of basic helix-loop-helix (bHLH) transcription factors, critical for neuronal differentiation. NA Belongs to the snail C2H2-type zinc-finger protein family. NA PE1 8 +NX_Q9BWW8 Apolipoprotein L6 343 38128 8.58 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles. NA Belongs to the apolipoprotein L family. NA PE1 22 +NX_Q9BWW9 Apolipoprotein L5 433 47044 9.39 0 Cytoplasm NA May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles. NA Belongs to the apolipoprotein L family. NA PE2 22 +NX_Q9BWX1 PHD finger protein 7 381 43767 8.58 0 Golgi apparatus;Nucleoplasm;Nucleus NA May play a role in spermatogenesis. NA NA NA PE1 3 +NX_Q9BWX5 Transcription factor GATA-5 397 41299 9.17 0 Nucleoplasm;Cytosol;Nucleus Congenital heart defects, multiple types, 5 Transcription factor required during cardiovascular development (PubMed:23289003). Plays an important role in the transcriptional program(s) that underlies smooth muscle cell diversity (By similarity). Binds to the functionally important CEF-1 nuclear protein binding site in the cardiac-specific slow/cardiac troponin C transcriptional enhancer (PubMed:25543888). NA NA Factors involved in megakaryocyte development and platelet production PE1 20 +NX_Q9BX10 GTP-binding protein 2 602 65768 8.32 0 Cytoplasm;Cytoplasmic vesicle Jaberi-Elahi syndrome NA NA Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. GTPBP1 subfamily. Platelet degranulation PE1 6 +NX_Q9BX26 Synaptonemal complex protein 2 1530 175639 9.01 0 Cell membrane;Chromosome;Nucleoplasm;Cytosol;Nucleus NA Major component of the axial/lateral elements of synaptonemal complexes (SCS) during meiotic prophase. Plays a role in the assembly of synaptonemal complexes. Required for normal meiotic chromosome synapsis during oocyte and spermatocyte development and for normal male and female fertility. Required for insertion of SYCP3 into synaptonemal complexes. May be involved in the organization of chromatin by temporarily binding to DNA scaffold attachment regions. Requires SYCP3, but not SYCP1, in order to be incorporated into the axial/lateral elements. Phosphorylated. Belongs to the SYCP2 family. Meiotic synapsis PE1 20 +NX_Q9BX40 Protein LSM14 homolog B 385 42071 9.69 0 Cytoplasmic vesicle;Nucleolus NA May play a role in control of mRNA translation. NA Belongs to the LSM14 family. NA PE1 20 +NX_Q9BX46 RNA-binding protein 24 236 24776 8.52 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Multifunctional RNA-binding protein involved in the regulation of pre-mRNA splicing, mRNA stability and mRNA translation important for cell fate decision and differentiation (PubMed:20977548, PubMed:24375645, PubMed:29358667, PubMed:29104163). Plays a major role in pre-mRNA alternative splicing regulation (PubMed:26990106, PubMed:29104163). Mediates preferentially muscle-specific exon inclusion in numerous mRNAs important for striated cardiac and skeletal muscle cell differentiation (PubMed:29104163). Binds to intronic splicing enhancer (ISE) composed of stretches of GU-rich motifs localized in flanking intron of exon that will be included by alternative splicing (By similarity). Involved in embryonic stem cell (ESC) transition to cardiac cell differentiation by promoting pre-mRNA alternative splicing events of several pluripotency and/or differentiation genes (PubMed:26990106). Plays a role in the regulation of mRNA stability (PubMed:20977548, PubMed:24356969, PubMed:24375645, PubMed:29104163). Binds to 3'-untranslated region (UTR) AU-rich elements in target transcripts, such as CDKN1A and MYOG, leading to maintain their stabilities (PubMed:20977548, PubMed:24356969). Involved in myogenic differentiation by regulating MYOG levels (PubMed:20977548). Binds to multiple regions in the mRNA 3'-UTR of TP63 isoform 2, hence inducing its destabilization (PubMed:24375645). Promotes also the destabilization of the CHRM2 mRNA via its binding to a region in the coding sequence (PubMed:29104163). Plays a role in the regulation of mRNA translation (PubMed:29358667). Mediates repression of p53/TP53 mRNA translation through its binding to U-rich element in the 3'-UTR, hence preventing EIF4E from binding to p53/TP53 mRNA and translation initiation (PubMed:29358667). Binds to a huge amount of mRNAs (PubMed:29104163). Required for embryonic heart development, sarcomer and M-band formation in striated muscles (By similarity). NA NA NA PE1 6 +NX_Q9BX51 Glutathione hydrolase light chain 1 225 24274 5 0 NA NA NA NA Belongs to the gamma-glutamyltransferase family. NA PE2 20 +NX_Q9BX59 Tapasin-related protein 468 50183 5.12 1 Microsome membrane;Golgi apparatus membrane;Endoplasmic reticulum membrane;Cell membrane NA Component of the antigen processing and presentation pathway, which binds to MHC class I coupled with beta2-microglobulin/B2M. Association between TAPBPR and MHC class I occurs in the absence of a functional peptide-loading complex (PLC). NA NA NA PE1 12 +NX_Q9BX63 Fanconi anemia group J protein 1249 140867 6.49 0 Nucleoplasm;Cytoplasm;Nucleus membrane;Nucleus Breast cancer;Fanconi anemia complementation group J DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1. Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated.;Acetylation at Lys-1249 facilitates DNA end processing required for repair and checkpoint signaling. Belongs to the DEAD box helicase family. DEAH subfamily. Fanconi anemia pathway;G2/M DNA damage checkpoint;Cytosolic iron-sulfur cluster assembly;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Regulation of TP53 Activity through Phosphorylation PE1 17 +NX_Q9BX66 Sorbin and SH3 domain-containing protein 1 1292 142513 6.4 0 Cell membrane;Nucleus matrix;Adherens junction;Focal adhesion;Centrosome;Nucleus;Cytoskeleton NA Plays a role in tyrosine phosphorylation of CBL by linking CBL to the insulin receptor. Required for insulin-stimulated glucose transport. Involved in formation of actin stress fibers and focal adhesions (By similarity). O-glycosylated. NA PPAR signaling pathway;Adherens junction;Insulin signaling pathway;Smooth Muscle Contraction PE1 10 +NX_Q9BX67 Junctional adhesion molecule C 310 35020 7.53 1 Golgi apparatus;Desmosome;Cell membrane;Cell junction;Secreted;Tight junction Hemorrhagic destruction of the brain with subependymal calcification and cataracts Soluble form of JAM-C: Promotes chemotaxis of vascular endothelial cells and stimulates angiogenesis.;Mediates cell-cell adhesion (PubMed:11590146, PubMed:12208882, PubMed:15194813). Functions as counter-receptor for JAM2 (PubMed:11590146). Functions as a counter-receptor for ITGAM, mediating leukocyte-platelet interactions and is involved in the regulation of transepithelial migration of polymorphonuclear neutrophils (PMN) (PubMed:12208882, PubMed:15194813). Plays a role in angiogenesis (PubMed:23255084). May play a role in the regulation of cell migration (Probable). Required for normal polarization and acrosome formation in developing spermatids, and for normal male fertility (By similarity). S-palmitoylated by ZDHHC7. S-palmitoylation promotes expression at tight junctions.;Proteolytically cleaved from endothelial cells surface into a soluble form by ADAM10 and ADAM17; the release of soluble JAM3 is increased by proinflammatory factors. Belongs to the immunoglobulin superfamily. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Epithelial cell signaling in Helicobacter pylori infection;Integrin cell surface interactions;Cell surface interactions at the vascular wall PE1 11 +NX_Q9BX68 Histidine triad nucleotide-binding protein 2, mitochondrial 163 17162 9.2 0 Mitochondrion NA Hydrolase probably involved in steroid biosynthesis. May play a role in apoptosis. Has adenosine phosphoramidase activity. NA Belongs to the HINT family. NA PE1 9 +NX_Q9BX69 Caspase recruitment domain-containing protein 6 1037 116468 5.98 0 NA NA May be involved in apoptosis. NA NA NOD-like receptor signaling pathway PE1 5 +NX_Q9BX70 BTB/POZ domain-containing protein 2 525 55931 5.63 0 Cytoplasm NA NA NA NA NA PE1 19 +NX_Q9BX73 TM2 domain-containing protein 2 214 22871 4.83 2 Membrane;Nucleoplasm;Cytoplasmic vesicle;Cell membrane NA NA NA Belongs to the TM2 family. NA PE1 8 +NX_Q9BX74 TM2 domain-containing protein 1 207 22327 6.09 2 Membrane NA May participate in amyloid-beta-induced apoptosis via its interaction with beta-APP42. N-glycosylated. Belongs to the TM2 family. NA PE1 1 +NX_Q9BX79 Receptor for retinol uptake STRA6 667 73503 9.18 9 Cell membrane Microphthalmia, syndromic, 9 Functions as retinol transporter. Accepts all-trans retinol from the extracellular retinol-binding protein RBP4, facilitates retinol transport across the cell membrane, and then transfers retinol to the cytoplasmic retinol-binding protein RBP1 (PubMed:9452451, PubMed:18316031, PubMed:22665496). Retinol uptake is enhanced by LRAT, an enzyme that converts retinol to all-trans retinyl esters, the storage forms of vitamin A (PubMed:18316031, PubMed:22665496). Contributes to the activation of a signaling cascade that depends on retinol transport and LRAT-dependent generation of retinol metabolites that then trigger activation of JAK2 and its target STAT5, and ultimately increase the expression of SOCS3 and inhibit cellular responses to insulin (PubMed:21368206, PubMed:22665496). Important for the homeostasis of vitamin A and its derivatives, such as retinoic acid (PubMed:18316031). STRA6-mediated transport is particularly important in the eye, and under conditions of dietary vitamin A deficiency (Probable). Does not transport retinoic acid (PubMed:18316031). Phosphorylated on tyrosine residues in response to RBP4 binding (PubMed:21368206, PubMed:22665496). Phosphorylation requires the presence of LRAT, suggesting it may be triggered by the uptake of retinol that is then metabolized within the cell to retinoids that function as signaling molecules (PubMed:22665496). NA The canonical retinoid cycle in rods (twilight vision);Retinoid cycle disease events PE1 15 +NX_Q9BX82 Zinc finger protein 471 626 73009 8.88 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9BX84 Transient receptor potential cation channel subfamily M member 6 2022 231708 7.86 6 Cell membrane Hypomagnesemia 1 Essential ion channel and serine/threonine-protein kinase. Crucial for magnesium homeostasis. Has an important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Isoforms of the type M6-kinase lack the ion channel region. NA In the N-terminal section; belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM6 sub-subfamily.;In the C-terminal section; belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily. Mineral absorption;TRP channels PE1 9 +NX_Q9BX93 Group XIIB secretory phospholipase A2-like protein 195 21659 5.75 0 Secreted NA Not known; does not seem to have catalytic activity. NA Belongs to the phospholipase A2 family. Glycerophospholipid metabolism;Ether lipid metabolism;Arachidonic acid metabolism;Linoleic acid metabolism;alpha-Linolenic acid metabolism;Metabolic pathways;MAPK signaling pathway;Vascular smooth muscle contraction;VEGF signaling pathway;Fc epsilon RI signaling pathway;Glutamatergic synapse;Long-term depression;GnRH signaling pathway;Pancreatic secretion;Fat digestion and absorption;Toxoplasmosis PE1 10 +NX_Q9BX95 Sphingosine-1-phosphate phosphatase 1 441 49108 9.08 9 Nucleoplasm;Endoplasmic reticulum membrane;Cell membrane NA Specifically dephosphorylates sphingosine 1-phosphate (S1P), dihydro-S1P, and phyto-S1P. Does not act on ceramide 1-phosphate, lysophosphatidic acid or phosphatidic acid (PubMed:16782891). Sphingosine-1-phosphate phosphatase activity is needed for efficient recycling of sphingosine into the sphingolipid synthesis pathway (PubMed:12815058, PubMed:11756451, PubMed:16782891). Regulates the intracellular levels of the bioactive sphingolipid metabolite S1P that regulates diverse biological processes acting both as an extracellular receptor ligand or as an intracellular second messenger (PubMed:11756451, PubMed:12815058, PubMed:16782891). Involved in efficient ceramide synthesis from exogenous sphingoid bases. Converts S1P to sphingosine, which is readily metabolized to ceramide via ceramide synthase. In concert with sphingosine kinase 2 (SphK2), recycles sphingosine into ceramide through a phosphorylation/dephosphorylation cycle (By similarity). Regulates endoplasmic-to-Golgi trafficking of ceramides, resulting in the regulation of ceramide levels in the endoplasmic reticulum, preferentially long-chain ceramide species, and influences the anterograde membrane transport of both ceramide and proteins from the endoplasmic retiulum to the Golgi apparatus (PubMed:16782891). The modulation of intracellular ceramide levels in turn regulates apoptosis (By similarity). Via S1P levels, modulates resting tone, intracellular Ca(2+) and myogenic vasoconstriction in resistance arteries (PubMed:18583713). Also involved in unfolded protein response (UPR) and ER stress-induced autophagy via regulation of intracellular S1P levels (PubMed:20798685, PubMed:18583713). Involved in the regulation of epidermal homeostasis and keratinocyte differentiation (By similarity). NA Belongs to the type 2 lipid phosphate phosphatase family. Sphingolipid metabolism;Sphingolipid de novo biosynthesis PE1 14 +NX_Q9BX97 Plasmalemma vesicle-associated protein 442 50594 9.01 1 Cell membrane;Centrosome;Caveola;Cytosol;Perinuclear region Diarrhea 10, protein-losing enteropathy type Endothelial cell-specific membrane protein involved in the formation of the diaphragms that bridge endothelial fenestrae. It is also required for the formation of stomata of caveolae and transendothelial channels. Functions in microvascular permeability, endothelial fenestrae contributing to the passage of water and solutes and regulating transcellular versus paracellular flow in different organs. Plays a specific role in embryonic development. NA NA NA PE1 19 +NX_Q9BXA5 Succinate receptor 1 334 38698 9.14 7 Cell membrane NA Receptor for succinate. NA Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;Class A/1 (Rhodopsin-like receptors) PE1 3 +NX_Q9BXA6 Testis-specific serine/threonine-protein kinase 6 273 30331 9.24 0 NA NA Required for sperm production and function. Plays a role in DNA condensation during postmeiotic chromatin remodeling (By similarity). Autophosphorylated.;Ubiquitinated; HSP90 activity negatively regulates ubiquitination and degradation. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. NA PE1 19 +NX_Q9BXA7 Testis-specific serine/threonine-protein kinase 1 367 41618 7.6 0 Cytoplasm;Acrosome;Flagellum NA Testis-specific serine/threonine-protein kinase required during spermatid development. Phosphorylates 'Ser-288' of TSKS. Involved in the late stages of spermatogenesis, during the reconstruction of the cytoplasm. During spermatogenesis, required for the transformation of a ring-shaped structure around the base of the flagellum originating from the chromatoid body. Autophosphorylated.;Ubiquitinated; HSP90 activity negatively regulates ubiquitination and degradation. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. NA PE1 5 +NX_Q9BXA9 Sal-like protein 3 1300 135346 6.56 0 Nucleus NA Probable transcription factor. NA Belongs to the sal C2H2-type zinc-finger protein family. NA PE1 18 +NX_Q9BXB1 Leucine-rich repeat-containing G-protein coupled receptor 4 951 104475 5.78 7 Centriolar satellite;Cell membrane Osteoporosis Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and is involved in the formation of various organs. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the signal. Its function as activator of the Wnt signaling pathway is required for the development of various organs, including liver, kidney, intestine, bone, reproductive tract and eye. May also act as a receptor for norrin (NDP), such results however require additional confirmation in vivo. Required during spermatogenesis to activate the Wnt signaling pathway in peritubular myoid cells. Required for the maintenance of intestinal stem cells and Paneth cell differentiation in postnatal intestinal crypts. Acts as a regulator of bone formation and remodeling. Involved in kidney development; required for maintaining the ureteric bud in an undifferentiated state. Involved in the development of the anterior segment of the eye. Required during erythropoiesis. Also acts as a negative regulator of innate immunity by inhibiting TLR2/TLR4 associated pattern-recognition and proinflammatory cytokine production. Plays an important role in regulating the circadian rhythms of plasma lipids, partially through regulating the rhythmic expression of MTTP (By similarity). NA Belongs to the G-protein coupled receptor 1 family. Regulation of FZD by ubiquitination PE1 11 +NX_Q9BXB4 Oxysterol-binding protein-related protein 11 747 83643 6.6 0 Golgi apparatus;Nucleoplasm;trans-Golgi network membrane;Late endosome membrane NA Plays a role in regulating ADIPOQ and FABP4 levels in differentiating adipocytes and is also involved in regulation of adipocyte triglyceride storage (PubMed:23028956). Weakly binds 25-hydroxycholesterol (PubMed:17428193). NA Belongs to the OSBP family. NA PE1 3 +NX_Q9BXB5 Oxysterol-binding protein-related protein 10 764 83970 8.56 0 Golgi apparatus;Cytosol;Cytoskeleton;Cell membrane NA Probable lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane. Its ability to bind phosphatidylserine, suggests that it specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P (PubMed:23934110) (Probable). Plays a role in negative regulation of lipid biosynthesis (PubMed:19554302). Negatively regulates APOB secretion from hepatocytes (PubMed:19554302, PubMed:22906437). Binds cholesterol and acidic phospholipids (PubMed:22906437). Also binds 25-hydroxycholesterol (PubMed:17428193). Binds phosphatidylserine (PubMed:23934110). NA Belongs to the OSBP family. Acyl chain remodelling of PS PE1 3 +NX_Q9BXB7 Spermatogenesis-associated protein 16 569 65263 9.21 0 Golgi apparatus Spermatogenic failure 6 Involved in the formation of sperm acrosome, which implicated its potential role in spermatogenesis and sperm-egg fusion. NA Belongs to the SPATA16 family. NA PE1 3 +NX_Q9BXC0 Hydroxycarboxylic acid receptor 1 346 39295 9.14 7 Cell membrane NA Acts as a receptor for L-lactate and mediates its anti-lipolytic effect through a G(i)-protein-mediated pathway. NA Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;Hydroxycarboxylic acid-binding receptors PE1 12 +NX_Q9BXC1 Probable G-protein coupled receptor 174 333 38503 8.73 7 Cytoplasmic vesicle;Cell membrane NA Putative receptor for purines coupled to G-proteins. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 X +NX_Q9BXC9 Bardet-Biedl syndrome 2 protein 721 79871 5.74 0 Cilium membrane;Cytoplasm;Centriolar satellite Retinitis pigmentosa 74;Bardet-Biedl syndrome 2 The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. NA NA BBSome-mediated cargo-targeting to cilium PE1 16 +NX_Q9BXD5 N-acetylneuraminate lyase 320 35163 5.4 0 Cytoplasm;Cell membrane;Cytoplasmic vesicle NA Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via a Schiff base intermediate. It prevents sialic acids from being recycled and returning to the cell surface. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded (By similarity). NA Belongs to the DapA family. NanA subfamily. Amino-sugar metabolism; N-acetylneuraminate degradation.;Amino sugar and nucleotide sugar metabolism;Sialic acid metabolism PE1 1 +NX_Q9BXE9 Vomeronasal type-1 receptor 3 311 34713 9.83 7 Cell membrane NA Putative pheromone receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 16 +NX_Q9BXF3 Cat eye syndrome critical region protein 2 1484 164213 6.51 0 Nucleoplasm;Cytoplasmic vesicle NA Chromatin reader component of histone-modifying complexes, such as the CERF (CECR2-containing-remodeling factor) complex and ISWI-type complex (PubMed:15640247, PubMed:26365797, PubMed:22464331). It thereby plays a role in various processes during development: required during embryogenesis for neural tube closure and inner ear development. In adults, required for spermatogenesis, via the formation of ISWI-type chromatin complexes (By similarity). In histone-modifying complexes, CECR2 recognizes and binds acylated histones: binds histones that are acetylated and/or butyrylated (PubMed:26365797, PubMed:22464331). May also be involved through its interaction with LRPPRC in the integration of cytoskeletal network with vesicular trafficking, nucleocytosolic shuttling, transcription, chromosome remodeling and cytokinesis (PubMed:11827465). NA NA NA PE1 22 +NX_Q9BXF6 Rab11 family-interacting protein 5 653 70415 9.28 0 Cytoplasm;Centriolar satellite;Secretory vesicle membrane;Recycling endosome membrane;Golgi apparatus membrane;Early endosome membrane;Cytoplasmic vesicle;Mitochondrion membrane NA Rab effector involved in protein trafficking from apical recycling endosomes to the apical plasma membrane. Involved in insulin granule exocytosis. May regulate V-ATPase intracellular transport in response to extracellular acidosis. Phosphorylated on serine and threonine residues. Phosphorylation at Ser-357 is PKA-dependent. NA Endocytosis PE1 2 +NX_Q9BXF9 Tektin-3 490 56636 6.93 0 Flagellum;Acrosome outer membrane NA May be a structural component of the sperm flagellum. Required for normal sperm mobility. N- and O-glycosylated.;May be proteolytically processed during the epididymal transit of spermatozoa. Belongs to the tektin family. NA PE1 17 +NX_Q9BXG8 Spermatogenic leucine zipper protein 1 430 49445 7.21 0 Cytoplasm;Nucleus NA Transcription factor that binds to the DNA sequence 5'-CANNTG-3'(E box) and the G-box motif. May play an important role in the regulation of cell proliferation and differentiation during spermatogenesis (By similarity). Phosphorylated by MAPK1/ERK2 and MAPK3/ERK1. NA NA PE1 5 +NX_Q9BXH1 Bcl-2-binding component 3, isoforms 1/2 193 20532 9.09 0 Cytosol;Mitochondrion NA Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis (PubMed:11463391). Functions by promoting partial unfolding of BCL2L1 and dissociation of BCL2L1 from p53/TP53. Regulates ER stress-induced neuronal apoptosis (PubMed:23340338). NA Belongs to the Bcl-2 family. p53 signaling pathway;Huntington's disease;Measles;BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members;Activation of PUMA and translocation to mitochondria;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;FOXO-mediated transcription of cell death genes PE1 19 +NX_Q9BXI2 Mitochondrial ornithine transporter 2 301 32580 9.22 6 Mitochondrion inner membrane NA Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Urea cycle PE1 5 +NX_Q9BXI3 Cytosolic 5'-nucleotidase 1A 368 41021 6.11 0 Cytoplasm NA Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides and has a broad substrate specificity. Helps to regulate adenosine levels in heart during ischemia and hypoxia. NA Belongs to the 5'-nucleotidase type 3 family. Purine metabolism;Pyrimidine metabolism;Nicotinate and nicotinamide metabolism;Metabolic pathways;Pyrimidine catabolism;Purine catabolism PE1 1 +NX_Q9BXI6 TBC1 domain family member 10A 508 57118 8.69 0 Microvillus;Cell membrane NA Acts as GTPase-activating protein for RAB27A, but not for RAB2A, RAB3A, nor RAB4A. Exists in both phosphorylated and non-phosphorylated state. NA TBC/RABGAPs PE1 22 +NX_Q9BXI9 Complement C1q tumor necrosis factor-related protein 6 278 30861 5.92 0 Nucleoplasm;Secreted NA NA NA NA NA PE1 22 +NX_Q9BXJ0 Complement C1q tumor necrosis factor-related protein 5 243 25298 6.05 0 Secreted Late-onset retinal degeneration NA NA NA NA PE1 11 +NX_Q9BXJ1 Complement C1q tumor necrosis factor-related protein 1 281 31743 6.42 0 Nucleoplasm;Cytosol;Secreted NA NA NA NA NA PE1 17 +NX_Q9BXJ2 Complement C1q tumor necrosis factor-related protein 7 289 30683 5.11 0 Cytoplasmic vesicle;Secreted NA NA NA NA NA PE1 4 +NX_Q9BXJ3 Complement C1q tumor necrosis factor-related protein 4 329 35256 8.38 0 Secreted NA May be involved in the regulation of the inflammatory network. Its role as pro- or anti-inflammatory seems to be context dependent (PubMed:21658842, PubMed:27086950). Seems to have some role in regulating food intake and energy balance when administered in the brain. This effect is sustained over a two-day period, and it is accompanied by decreased expression of orexigenic neuropeptides in the hypothalamus 3 h post-injection (By similarity). NA NA NA PE1 11 +NX_Q9BXJ4 Complement C1q tumor necrosis factor-related protein 3 246 26994 6.04 0 Golgi apparatus;Secreted NA NA Glycosylated on Asn-70. NA NA PE1 5 +NX_Q9BXJ5 Complement C1q tumor necrosis factor-related protein 2 285 29952 9.04 0 Secreted NA NA NA NA NA PE1 5 +NX_Q9BXJ7 Protein amnionless 453 47754 5.76 1 Endosome membrane;Cell membrane;Coated pit;Secreted;Apical cell membrane Recessive hereditary megaloblastic anemia 1 Membrane-bound component of the endocytic receptor formed by AMN and CUBN (PubMed:14576052, PubMed:30523278, PubMed:29402915). Required for normal CUBN glycosylation and trafficking to the cell surface (PubMed:14576052, PubMed:29402915). The complex formed by AMN and CUBN is required for efficient absorption of vitamin B12 (PubMed:12590260, PubMed:14576052, PubMed:26040326). Required for normal CUBN-mediated protein transport in the kidney (Probable). N-glycosylated.;A soluble form arises by proteolytic removal of the membrane anchor. NA Cobalamin (Cbl, vitamin B12) transport and metabolism;Defective AMN causes hereditary megaloblastic anemia 1;Defective CUBN causes hereditary megaloblastic anemia 1;HDL clearance PE1 14 +NX_Q9BXJ8 Transmembrane protein 120A 343 40610 9.14 5 Nucleus inner membrane NA Necessary for efficient adipogenesis (PubMed:26024229). NA Belongs to the TMEM120 family. NA PE1 7 +NX_Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit 866 101272 7.23 0 Cytoplasm;Cytosol;Nucleus Mental retardation, autosomal dominant 50 Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity. The NAT activity may be important for vascular, hematopoietic and neuronal growth and development. Required to control retinal neovascularization in adult ocular endothelial cells. In complex with XRCC6 and XRCC5 (Ku80), up-regulates transcription from the osteocalcin promoter. Cleaved by caspases during apoptosis, resulting in a stable 35 kDa fragment. NA NA PE1 4 +NX_Q9BXK1 Krueppel-like factor 16 252 25431 9.95 0 Nucleoplasm;Nucleus NA Transcription factor that binds GC and GT boxes and displaces Sp1 and Sp3 from these sequences. Modulates dopaminergic transmission in the brain (By similarity). NA Belongs to the Sp1 C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q9BXK5 Bcl-2-like protein 13 485 52723 4.41 1 Mitochondrion membrane;Mitochondrion;Nucleus NA May promote the activation of caspase-3 and apoptosis. NA Belongs to the Bcl-2 family. Legionellosis PE1 22 +NX_Q9BXL5 Hemogen 484 55341 4.82 0 Nucleoplasm;Nucleus NA Regulates the proliferation and differentiation of hematopoietic cells. Overexpression block the TPA-induced megakaryocytic differentiation in the K562 cell model. May also prevent cell apoptosis through the activation of the nuclear factor-kappa B (NF-kB). NA NA NA PE1 9 +NX_Q9BXL6 Caspase recruitment domain-containing protein 14 1004 113270 5.65 0 Cytoplasm Pityriasis rubra pilaris;Psoriasis 2 Not able to activate the inflammatory transcription factor NF-kappa-B and may function as a dominant negative regulator (PubMed:21302310, PubMed:26358359).;Acts as a scaffolding protein that can activate the inflammatory transcription factor NF-kappa-B and p38/JNK MAP kinase signaling pathways. Forms a signaling complex with BCL10 and MALT1, and activates MALT1 proteolytic activity and inflammatory gene expression. MALT1 is indispensable for CARD14-induced activation of NF-kappa-B and p38/JNK MAP kinases (PubMed:11278692, PubMed:21302310, PubMed:27113748, PubMed:27071417). May play a role in signaling mediated by TRAF2, TRAF3 and TRAF6 and protects cells against apoptosis. NA NA NA PE1 17 +NX_Q9BXL7 Caspase recruitment domain-containing protein 11 1154 133284 5.78 0 Cytoplasm;Membrane raft Immunodeficiency 11 A;Immunodeficiency 11B with atopic dermatitis;B-cell expansion with NFKB and T-cell anergy Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10. Also activates the TORC1 signaling pathway. Phosphorylation at Ser-559, Ser-644 and Ser-652 by PRKCB and PRKCQ leads to a shift from an inactive to an active form that activates the NF-kappa-B signaling. NA T cell receptor signaling pathway;B cell receptor signaling pathway;Activation of NF-kappaB in B cells;FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;Downstream TCR signaling PE1 7 +NX_Q9BXL8 Cell division cycle-associated protein 4 241 26114 4.86 0 Nucleoplasm;Cytosol;Nucleus NA May participate in the regulation of cell proliferation through the E2F/RB pathway. May be involved in molecular regulation of hematopoietic stem cells and progenitor cell lineage commitment and differentiation (By similarity). NA NA NA PE1 14 +NX_Q9BXM0 Periaxin 1461 154905 7.22 0 Cytoplasm;Golgi apparatus;Cell membrane;Cell junction;Cytoplasmic vesicle;Nucleus Charcot-Marie-Tooth disease 4F;Dejerine-Sottas syndrome Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells. Required for the maintenance of the peripheral myelin sheath that is essential for normal transmission of nerve impulses and normal perception of sensory stimuli. Required for normal transport of MBP mRNA from the perinuclear to the paranodal regions. Required for normal remyelination after nerve injury. Required for normal elongation of Schwann cells and normal length of the internodes between the nodes of Ranvier. The demyelinated nodes of Ranvier permit saltatory transmission of nerve impulses; shorter internodes cause slower transmission of nerve impulses. Required for the formation of appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane; the Schwann cell cytoplasm is restricted to regions between these appositions. Required for the formation of Cajal bands and of Schmidt-Lanterman incisures that correspond to short, cytoplasm-filled regions on myelinated nerves. Recruits DRP2 to the Schwann cell plasma membrane. Required for normal protein composition of the eye lens fiber cell plasma membrane and normal eye lens fiber cell morphology. NA Belongs to the periaxin family. NA PE1 19 +NX_Q9BXM7 Serine/threonine-protein kinase PINK1, mitochondrial 581 62769 9.43 1 Mitochondrion outer membrane;Cytosol;Mitochondrion inner membrane Parkinson disease 6 Protects against mitochondrial dysfunction during cellular stress by phosphorylating mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) by mediating activation and translocation of PRKN (PubMed:14607334, PubMed:15087508, PubMed:19229105, PubMed:19966284, PubMed:20404107, PubMed:20798600, PubMed:23620051, PubMed:23754282, PubMed:23933751, PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:24896179, PubMed:25527291). Targets PRKN to dysfunctional depolarized mitochondria through the phosphorylation of MFN2 (PubMed:23620051). Activates PRKN in 2 steps: (1) by mediating phosphorylation at 'Ser-65' of PRKN and (2) mediating phosphorylation of ubiquitin, converting PRKN to its fully-active form (PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:25527291). Required for ubiquinone reduction by mitochondrial complex I by mediating phosphorylation of complex I subunit NDUFA10 (By similarity). Two shorter forms of 55 kDa and 48 kDa seem to be produced by proteolytic cleavage and localize mainly in cytosol.;Autophosphorylation at Ser-228 and Ser-402 is essential for Parkin/PRKN recruitment to depolarized mitochondria. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Parkinson's disease;Pink/Parkin Mediated Mitophagy;FOXO-mediated transcription of cell death genes PE1 1 +NX_Q9BXM9 FSD1-like protein 530 59578 5.86 0 Cytoskeleton;Cell membrane NA NA NA NA NA PE1 9 +NX_Q9BXN1 Asporin 380 43417 6.61 0 Extracellular matrix Intervertebral disc disease;Osteoarthritis 3 Negatively regulates periodontal ligament (PDL) differentiation and mineralization to ensure that the PDL is not ossified and to maintain homeostasis of the tooth-supporting system. Inhibits BMP2-induced cytodifferentiation of PDL cells by preventing its binding to BMPR1B/BMP type-1B receptor, resulting in inhibition of BMP-dependent activation of SMAD proteins (By similarity). Critical regulator of TGF-beta in articular cartilage and plays an essential role in cartilage homeostasis and osteoarthritis (OA) pathogenesis. Negatively regulates chondrogenesis in the articular cartilage by blocking the TGF-beta/receptor interaction on the cell surface and inhibiting the canonical TGF-beta/Smad signal. Binds calcium and plays a role in osteoblast-driven collagen biomineralization activity. There is no serine/glycine dipeptide sequence expected for the attachment of O-linked glycosaminoglycans and this is probably not a proteoglycan. The O-linked polysaccharide on 54-Ser is probably the mucin type linked to GalNAc.;The N-linked glycan at Asn-282 is composed of variable structures of GlcNAc, mannose, fucose, HexNAc and hexose. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class I subfamily. ECM proteoglycans PE1 9 +NX_Q9BXN2 C-type lectin domain family 7 member A 247 27627 5.21 1 Cytoplasm;Cell membrane Candidiasis, familial, 4 Lectin that functions as pattern receptor specific for beta-1,3-linked and beta-1,6-linked glucans, such as cell wall constituents from pathogenic bacteria and fungi. Induces phosphorylation of SCIMP after binding beta-glucans (By similarity). Necessary for the TLR2-mediated inflammatory response and for TLR2-mediated activation of NF-kappa-B. Enhances cytokine production in macrophages and dendritic cells. Mediates production of reactive oxygen species in the cell. Mediates phagocytosis of C.albicans conidia. Binds T-cells in a way that does not involve their surface glycans and plays a role in T-cell activation. Stimulates T-cell proliferation (By similarity). Phosphorylated on tyrosine residues in response to glucan binding. NA Phagosome;Tuberculosis;CLEC7A (Dectin-1) signaling PE1 12 +NX_Q9BXN6 Sperm protein associated with the nucleus on the X chromosome D 97 11029 5.87 0 Cytoplasm;Nucleus NA NA NA Belongs to the SPAN-X family. NA PE1 X +NX_Q9BXP2 Solute carrier family 12 member 9 914 96110 8.35 12 Cell membrane NA May be an inhibitor of SLC12A1. Seems to correspond to a subunit of a multimeric transport system and thus, additional subunits may be required for its function. NA Belongs to the SLC12A transporter family. NA PE1 7 +NX_Q9BXP5 Serrate RNA effector molecule homolog 876 100666 5.7 0 Cytoplasm;Nucleoplasm NA Acts as a mediator between the cap-binding complex (CBC) and the primary microRNAs (miRNAs) processing machinery during cell proliferation. Contributes to the stability and delivery of capped primary miRNA transcripts to the primary miRNA processing complex containing DGCR8 and DROSHA, thereby playing a role in RNA-mediated gene silencing (RNAi) by miRNAs. Binds capped RNAs (m7GpppG-capped RNA); however interaction is probably mediated via its interaction with NCBP1/CBP80 component of the CBC complex. Involved in cell cycle progression at S phase. Does not directly confer arsenite resistance but rather modulates arsenic sensitivity. Independently of its activity on miRNAs, necessary and sufficient to promote neural stem cell self-renewal. Does so by directly binding SOX2 promoter and positively regulating its transcription (By similarity). NA Belongs to the ARS2 family. mRNA Splicing - Major Pathway;RNA polymerase II transcribes snRNA genes PE1 7 +NX_Q9BXP8 Pappalysin-2 1791 198539 5.26 0 Endoplasmic reticulum;Secreted;Cytoplasmic vesicle NA Metalloproteinase which specifically cleaves insulin-like growth factor binding protein (IGFBP)-5 at the '163-Ser-|-Lys-164' bond. Shows limited proteolysis toward IGFBP-3. NA Belongs to the peptidase M43B family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) PE1 1 +NX_Q9BXQ6 Transmembrane protein 121B 578 58425 9.35 0 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA NA NA Belongs to the TMEM121 family. NA PE1 22 +NX_Q9BXR0 Queuine tRNA-ribosyltransferase catalytic subunit 1 403 44048 6.82 0 Mitochondrion outer membrane;Cytoplasm;Mitochondrion NA Catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2-cyclopenten-1-yl)amino)methyl)-7-deazaguanosine) (PubMed:11255023, PubMed:20354154). Catalysis occurs through a double-displacement mechanism. The nucleophile active site attacks the C1' of nucleotide 34 to detach the guanine base from the RNA, forming a covalent enzyme-RNA intermediate. The proton acceptor active site deprotonates the incoming queuine, allowing a nucleophilic attack on the C1' of the ribose to form the product (By similarity). NA Belongs to the queuine tRNA-ribosyltransferase family. tRNA modification in the nucleus and cytosol PE1 19 +NX_Q9BXR3 Endogenous retrovirus group K member 6 Pol protein 956 107688 9.07 0 NA NA Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution. Cleavage sites that yield the mature proteins remain to be determined. Belongs to the beta type-B retroviral polymerase family. HERV class-II K(HML-2) pol subfamily. NA PE2 7 +NX_Q9BXR5 Toll-like receptor 10 811 94564 6.32 1 Membrane;Cytosol;Centrosome NA Participates in the innate immune response to microbial agents. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (By similarity). NA Belongs to the Toll-like receptor family. IRAK4 deficiency (TLR5);MyD88 cascade initiated on plasma membrane;Toll Like Receptor 10 (TLR10) Cascade PE1 4 +NX_Q9BXR6 Complement factor H-related protein 5 569 64419 6.81 0 Secreted CFHR5 deficiency Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. NA NA Regulation of Complement cascade PE1 1 +NX_Q9BXS0 Collagen alpha-1(XXV) chain 654 64771 8.6 1 Membrane;Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum Fibrosis of extraocular muscles, congenital, 5 Inhibits fibrillization of amyloid-beta peptide during the elongation phase. Has also been shown to assemble amyloid fibrils into protease-resistant aggregates. Binds heparin. Hydroxylated on 11% of proline residues and 49% of lysine residues.;Undergoes proteolytic cleavage by furin protease to yield the soluble collagen-like Alzheimer amyloid plaque component.;Glycosylated. NA Collagen degradation;Collagen biosynthesis and modifying enzymes;Collagen chain trimerization PE1 4 +NX_Q9BXS1 Isopentenyl-diphosphate delta-isomerase 2 227 26753 6.01 0 Peroxisome NA Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP). NA Belongs to the IPP isomerase type 1 family. Isoprenoid biosynthesis; dimethylallyl diphosphate biosynthesis; dimethylallyl diphosphate from isopentenyl diphosphate: step 1/1.;Terpenoid backbone biosynthesis;Metabolic pathways;Cholesterol biosynthesis PE1 10 +NX_Q9BXS4 Transmembrane protein 59 323 36223 5 1 Lysosome membrane;Cell membrane;Late endosome membrane;Golgi apparatus membrane NA Acts as a regulator of autophagy in response to S.aureus infection by promoting activation of LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C). Acts by interacting with ATG16L1, leading to promote a functional complex between LC3 and ATG16L1 and promoting LC3 lipidation and subsequent activation of autophagy (PubMed:27273576, PubMed:23376921). Modulates the O-glycosylation and complex N-glycosylation steps occurring during the Golgi maturation of several proteins such as APP, BACE1, SEAP or PRNP (PubMed:20427278). Inhibits APP transport to the cell surface and further shedding (PubMed:20427278). N-glycosylated. Belongs to the TMEM59 family. NA PE1 1 +NX_Q9BXS5 AP-1 complex subunit mu-1 423 48587 6.82 0 Golgi apparatus;Clathrin-coated vesicle membrane NA Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. Phosphorylation of membrane-bound AP1M1/AP1M2 increases its affinity for sorting signals. Belongs to the adaptor complexes medium subunit family. Lysosome;MHC class II antigen presentation;Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis;Nef mediated downregulation of MHC class I complex cell surface expression;Neutrophil degranulation PE1 19 +NX_Q9BXS6 Nucleolar and spindle-associated protein 1 441 49452 9.92 0 Cytoplasm;Nucleolus;Chromosome;Nucleoplasm;Spindle NA Microtubule-associated protein with the capacity to bundle and stabilize microtubules (By similarity). May associate with chromosomes and promote the organization of mitotic spindle microtubules around them. Ubiquitinated. Ubiquitination by FZR1 may lead to proteasome-dependent degradation of this protein.;Phosphorylation by ATM in G2/M-phase induces mitotic arrest. Belongs to the NUSAP family. NA PE1 15 +NX_Q9BXS9 Solute carrier family 26 member 6 759 82967 8.57 8 Microsome;Cell membrane;Basolateral cell membrane;Membrane;Cytoplasmic vesicle membrane;Cytosol;Apical cell membrane NA Apical membrane chloride-bicarbonate exchanger. Its association with carbonic anhydrase CA2 forms a bicarbonate transport metabolon; hence maximizes the local concentration of bicarbonate at the transporter site.;Apical membrane anion-exchanger with wide epithelial distribution that plays a role as a component of the pH buffering system for maintaining acid-base homeostasis. Acts as a versatile DIDS-sensitive inorganic and organic anion transporter that mediates the uptake of monovalent anions like chloride, bicarbonate, formate and hydroxyl ion and divalent anions like sulfate and oxalate. Function in multiple exchange modes involving pairs of these anions, which include chloride-bicarbonate, chloride-oxalate, oxalate-formate, oxalate-sulfate and chloride-formate exchange. Apical membrane chloride-bicarbonate exchanger that mediates luminal chloride absorption and bicarbonate secretion by the small intestinal brush border membrane and contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton-coupled peptide absorption, possibly by providing a bicarbonate import pathway. Mediates also intestinal chloride absorption and oxalate secretion, thereby preventing hyperoxaluria and calcium oxalate urolithiasis. Transepithelial oxalate secretion, chloride-formate, chloride-oxalate and chloride-bicarbonate transport activities in the duodenum are inhibited by PKC activation in a calcium-independent manner. The apical membrane chloride-bicarbonate exchanger provides also a major route for fluid and bicarbonate secretion into the proximal tubules of the kidney as well as into the proximal part of the interlobular pancreatic ductal tree, where it mediates electrogenic chloride-bicarbonate exchange with a chloride-bicarbonate stoichiometry of 1:2, and hence will dilute and alkalinize protein-rich acinar secretion. Mediates also the transcellular sulfate absorption and oxalate secretion across the apical membrane in the duodenum and the formate ion efflux at the apical brush border of cells in the proximal tubules of kidney. Plays a role in sperm capacitation by increasing intracellular pH. Phosphorylated on serine residues by PKC; the phosphorylation disrupts interaction with carbonic anhydrase CA2 and reduces bicarbonate transport activity in a phorbol myristate acetate (PMA)-induced manner. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. Mineral absorption;Multifunctional anion exchangers PE1 3 +NX_Q9BXT2 Voltage-dependent calcium channel gamma-6 subunit 260 28129 9.4 4 Cytosol;Nucleolus;Cell membrane NA Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit. NA Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. MAPK signaling pathway;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 19 +NX_Q9BXT4 Tudor domain-containing protein 1 1180 132024 5.96 0 Cytoplasm NA Plays a central role during spermatogenesis by participating in the repression transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Required for the localization of Piwi proteins to the meiotic nuage. Involved in the piRNA metabolic process by ensuring the entry of correct transcripts into the normal piRNA pool and limiting the entry of cellular transcripts into the piRNA pathway. May act by allowing the recruitment of piRNA biogenesis or loading factors that ensure the correct entry of transcripts and piRNAs into Piwi proteins (By similarity). NA Belongs to the TDRD1 family. PIWI-interacting RNA (piRNA) biogenesis PE1 10 +NX_Q9BXT5 Testis-expressed protein 15 2789 315336 5.81 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Spermatogenic failure 25 Required during spermatogenesis for normal chromosome synapsis and meiotic recombination in germ cells. Necessary for formation of DMC1 and RAD51 foci on meiotic chromosomes, suggesting a specific role in DNA double-stranded break repair. NA Belongs to the TEX15 family. Meiotic recombination PE1 8 +NX_Q9BXT6 RNA helicase Mov10l1 1211 135293 6.07 0 Cytoplasm NA ATP-dependent RNA helicase required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Involved in the primary piRNA metabolic process. Specifically binds to piRNA precursors and promotes the generation of intermediate piRNA processing fragments that are subsequently loaded to Piwi proteins. Acts via its ATP-dependent RNA helicase activity: displays 5'-3' RNA unwinding activity and probably mediates unwinding and funneling of single-stranded piRNA precursor transcripts to the endonuclease that catalyzes the first cleavage step of piRNA processing to generate piRNA intermediate fragments that are subsequently loaded to Piwi proteins. NA Belongs to the DNA2/NAM7 helicase family. SDE3 subfamily. PIWI-interacting RNA (piRNA) biogenesis PE1 22 +NX_Q9BXT8 RING finger protein 17 1623 184643 5.27 0 Cytoplasm;Nucleus NA Seems to be involved in regulation of transcriptional activity of MYC. In vitro, inhibits DNA-binding activity of Mad-MAX heterodimers. Can recruit Mad transcriptional repressors (MXD1, MXD3, MXD4 and MXI1) to the cytoplasm. May be involved in spermiogenesis (By similarity). NA NA NA PE1 13 +NX_Q9BXU0 Testis-expressed protein 12 123 14107 5.22 0 NA NA NA NA NA Meiotic synapsis PE1 11 +NX_Q9BXU1 Serine/threonine-protein kinase 31 1019 115694 5.04 0 NA NA NA NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. NA PE1 7 +NX_Q9BXU2 Testis-expressed protein 13B 312 33967 5.79 0 NA NA NA NA Belongs to the TEX13 family. NA PE1 X +NX_Q9BXU3 Testis-expressed protein 13A 409 45583 5.36 0 NA NA NA NA Belongs to the TEX13 family. NA PE1 X +NX_Q9BXU7 Ubiquitin carboxyl-terminal hydrolase 26 913 104047 8.91 0 Nucleus NA Involved in the ubiquitin-dependent proteolytic pathway in conjunction with the 26S proteasome (By similarity). Deubiquitinates the androgen receptor and regulates the androgen receptor signaling pathway. NA Belongs to the peptidase C19 family. Ub-specific processing proteases PE1 X +NX_Q9BXU8 Ferritin heavy polypeptide-like 17 183 21142 6.05 0 NA NA NA NA Belongs to the ferritin family. NA PE1 X +NX_Q9BXU9 Calcium-binding protein 8 219 24837 4.76 1 Cytoplasmic vesicle;trans-Golgi network membrane;Perinuclear region;Cell membrane NA Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity (By similarity). May play a role in the physiology of neurons and is potentially important in memory and learning. NA NA NA PE1 7 +NX_Q9BXV9 EKC/KEOPS complex subunit GON7 100 10859 4.08 0 Nucleoplasm;Nucleolus;Nucleus NA Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. GON7 likely plays a supporting role to the catalytic subunit OSGEP in the complex. NA NA NA PE1 14 +NX_Q9BXW3 Putative uncharacterized protein SNHG12 62 6988 4.63 0 NA NA NA NA NA NA PE5 1 +NX_Q9BXW4 Microtubule-associated proteins 1A/1B light chain 3C 147 16852 9.14 0 Autophagosome membrane;Endomembrane system;Autophagosome;Cytosol;Cytoskeleton NA Ubiquitin-like modifier that plays a crucial role in antibacterial autophagy (xenophagy) through the selective binding of CALCOCO2. Recruits all ATG8 family members to infecting bacteria such as S.Typhimurium (PubMed:23022382). May also play a role in aggrephagy, the macroautophagic degradation of ubiquitinated and aggregated proteins (PubMed:28404643). The precursor molecule is cleaved by ATG4B to form the cytosolic form, LC3-I. This is activated by APG7L/ATG7, transferred to ATG3 and conjugated to phospholipid to form the membrane-bound form, LC3-II (PubMed:15187094).;The Legionella effector RavZ is a deconjugating enzyme that produces an ATG8 product that would be resistant to reconjugation by the host machinery due to the cleavage of the reactive C-terminal glycine. Belongs to the ATG8 family. Macroautophagy PE1 1 +NX_Q9BXW6 Oxysterol-binding protein-related protein 1 950 108470 5.96 0 Nucleoplasm;Cytosol;Late endosome NA Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (By similarity). Stabilizes GTP-bound RAB7A on late endosomes/lysosomes and alters functional properties of late endocytic compartments via its interaction with RAB7A (PubMed:16176980). Binds 25-hydroxycholesterol and cholesterol (PubMed:17428193). NA Belongs to the OSBP family. MHC class II antigen presentation;Synthesis of bile acids and bile salts PE1 18 +NX_Q9BXW7 Haloacid dehalogenase-like hydrolase domain-containing 5 423 46321 8.38 0 Mitochondrion NA NA NA Belongs to the HAD-like hydrolase superfamily. NA PE1 22 +NX_Q9BXW9 Fanconi anemia group D2 protein 1451 164128 5.58 0 Nucleoplasm;Nucleus;Nucleolus;Cytosol Fanconi anemia complementation group D2 Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by replicative stress. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching. Monoubiquitinated on Lys-561 during S phase and upon genotoxic stress by FANCL in complex with E2 ligases UBE2T or UBE2W (isoform 1 and isoform 2). Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the joint intervention of the FANC core complex, including FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, and FANCM, and proteins involved in cell cycle checkpoints and DNA repair, including RPA1, ATR, CHEK1 and BRCA1, and is mediated by FANCL/PHF9. Ubiquitination is required for binding to chromatin, interaction with BRCA1, BRCA2 and MTMR15/FAN1, DNA repair, and normal cell cycle progression, but not for phosphorylation on Ser-222 or interaction with MEN1.;Phosphorylated in response to various genotoxic stresses by ATM and/or ATR. Upon ionizing radiation, phosphorylated by ATM on Ser-222 and Ser-1404. Phosphorylation on Ser-222 is required for S-phase checkpoint activation, but not for ubiquitination, foci formation, or DNA repair. In contrast, phosphorylation by ATR on other sites may be required for ubiquitination and foci formation. NA Fanconi anemia pathway;Fanconi Anemia Pathway;TP53 Regulates Transcription of DNA Repair Genes PE1 3 +NX_Q9BXX0 EMILIN-2 1053 115687 6.04 0 Extracellular matrix NA May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity. NA NA Molecules associated with elastic fibres PE1 18 +NX_Q9BXX2 Ankyrin repeat domain-containing protein 30B 1392 158049 6.01 0 NA NA NA NA NA NA PE1 18 +NX_Q9BXX3 Ankyrin repeat domain-containing protein 30A 1397 158835 6.08 0 NA NA NA NA NA NA PE1 10 +NX_Q9BXY0 Protein MAK16 homolog 300 35369 5.27 0 Cytoplasmic vesicle;Nucleolus NA NA NA Belongs to the MAK16 family. NA PE1 8 +NX_Q9BXY4 R-spondin-3 272 30929 9.53 0 Secreted NA Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors, which acts as a key regulator of angiogenesis. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May negatively regulate the TGF-beta pathway (PubMed:21727895, PubMed:21909076, PubMed:22615920). Acts as a key regulator of angiogenesis by controlling vascular stability and pruning: acts by activating the non-canonical Wnt signaling pathway in endothelial cells (By similarity) (PubMed:21727895, PubMed:21909076, PubMed:22615920). Can also amplify Wnt signaling pathway independently of LGR4-6 receptors, possibly by acting as a direct antagonistic ligand to RNF43 and ZNRF3 (PubMed:29769720). NA Belongs to the R-spondin family. Regulation of FZD by ubiquitination;RUNX1 regulates transcription of genes involved in WNT signaling PE1 6 +NX_Q9BXY5 Calcyphosin-2 557 63835 8.87 0 Nucleoplasm;Centrosome;Nucleolus NA NA NA NA NA PE1 12 +NX_Q9BXY8 Protein BEX2 128 15321 5.89 0 Cytoplasm;Nucleus NA Regulator of mitochondrial apoptosis and G1 cell cycle in breast cancer. Protects the breast cancer cells against mitochondrial apoptosis and this effect is mediated through the modulation of BCL2 protein family, which involves the positive regulation of anti-apoptotic member BCL2 and the negative regulation of pro-apoptotic members BAD, BAK1 and PUMA. Required for the normal cell cycle progression during G1 in breast cancer cells through the regulation of CCND1 and CDKN1A. Regulates the level of PP2A regulatory subunit B and PP2A phosphatase activity. NA Belongs to the BEX family. NA PE1 X +NX_Q9BY07 Electrogenic sodium bicarbonate cotransporter 4 1137 126255 8.1 12 Apical cell membrane NA Mediates sodium- and bicarbonate-dependent electrogenic sodium bicarbonate cotransport, with a Na(+):HCO3(-) stoichiometry of 2:1. May have a housekeeping function in regulating the pH of tissues in which it is expressed. May play a role in mediating Na(+):HCO3(-) cotransport in hepatocytes and intrahepatic cholangiocytes. Also may be important in protecting the renal paranchyma from alterations in urine pH. NA Belongs to the anion exchanger (TC 2.A.31) family. Bile secretion;Bicarbonate transporters PE1 2 +NX_Q9BY08 Emopamil-binding protein-like 206 23204 5.91 4 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Does not possess sterol isomerase activity and does not bind sigma ligands. NA Belongs to the EBP family. NA PE1 13 +NX_Q9BY10 Thymic stromal cotransporter homolog 475 51067 9.18 12 Cell membrane NA May act as a transporter. Glycosylated. Belongs to the major facilitator superfamily. SLC46A family. NA PE1 9 +NX_Q9BY11 Protein kinase C and casein kinase substrate in neurons protein 1 444 50966 5.15 0 Cytoplasm;Cell membrane;Synaptosome;Cell projection;Membrane;Nucleoplasm;Cytoplasmic vesicle membrane;Synapse;Ruffle membrane;Cytoplasmic vesicle;Cytosol NA Plays a role in the reorganization of the microtubule cytoskeleton via its interaction with MAPT; this decreases microtubule stability and inhibits MAPT-induced microtubule polymerization. Plays a role in cellular transport processes by recruiting DNM1, DNM2 and DNM3 to membranes. Plays a role in the reorganization of the actin cytoskeleton and in neuron morphogenesis via its interaction with COBL and WASL, and by recruiting COBL to the cell cortex. Plays a role in the regulation of neurite formation, neurite branching and the regulation of neurite length. Required for normal synaptic vesicle endocytosis; this process retrieves previously released neurotransmitters to accommodate multiple cycles of neurotransmission. Required for normal excitatory and inhibitory synaptic transmission (By similarity). Binds to membranes via its F-BAR domain and mediates membrane tubulation. Phosphorylated by casein kinase 2 (CK2) and protein kinase C (PKC). Belongs to the PACSIN family. Clathrin-mediated endocytosis PE1 6 +NX_Q9BY12 S phase cyclin A-associated protein in the endoplasmic reticulum 1400 158287 7.21 0 Endoplasmic reticulum;Nucleoplasm;Cytosol;Nucleus Intellectual developmental disorder and retinitis pigmentosa CCNA2/CDK2 regulatory protein that transiently maintains CCNA2 in the cytoplasm. Phosphorylated in vitro by the CCNA2/CDK2 complex. NA NA PE1 15 +NX_Q9BY14 Testis-expressed protein 101 249 26667 4.9 0 Cell membrane;Secreted;Cytoplasmic vesicle;Membrane raft;Acrosome NA Plays a role in fertilization by controlling binding of sperm to zona pellucida and migration of spermatozoa into the oviduct (By similarity). May play a role in signal transduction and promote protein tyrosine phosphorylation (By similarity). Sheds from membrane raft by ACE and released from the cell surface of epididymal sperm while it passes through the caput epididymis leading to disappearance of TEX101 on spermatozoa; is essential to produce fertile spermatozoa.;N-glycosylated; by high mannose and/or biantennary complex and/or certain types of hybrid oligosaccharides; possesses different oligosaccharides chains according to its subcellular localization in the testis. NA Post-translational modification: synthesis of GPI-anchored proteins PE1 19 +NX_Q9BY15 Adhesion G protein-coupled receptor E3 652 72621 8.41 7 Secreted;Cell membrane NA Orphan receptor that may play a role myeloid-myeloid interactions during immune and inflammatory responses. A ligand for the soluble form of this receptor is present at the surface of monocytes-derived macrophages and activated neutrophils. Proteolytically cleaved into 2 subunits, an extracellular alpha subunit and a seven-transmembrane subunit. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. Class B/2 (Secretin family receptors);Neutrophil degranulation PE1 19 +NX_Q9BY19 Membrane-spanning 4-domains subfamily A member 8 250 26290 5.76 4 Membrane NA May be involved in signal transduction as a component of a multimeric receptor complex. NA Belongs to the MS4A family. NA PE2 11 +NX_Q9BY21 G-protein coupled receptor 87 358 41436 9.55 7 Nucleoplasm;Mitochondrion;Lipid droplet;Cell membrane NA Receptor for lysophosphatidic acid (LPA). Necessary for p53/TP53-dependent survival in response to DNA damage. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 3 +NX_Q9BY27 Protein DGCR6L 220 24932 7.02 0 Nucleus NA May play a role in neural crest cell migration into the third and fourth pharyngeal pouches. NA Belongs to the gonadal family. NA PE1 22 +NX_Q9BY31 Zinc finger protein 717 904 105251 8.91 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 3 +NX_Q9BY32 Inosine triphosphate pyrophosphatase 194 21446 5.5 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Inosine triphosphate pyrophosphohydrolase deficiency;Epileptic encephalopathy, early infantile, 35 Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions. NA Belongs to the HAM1 NTPase family. Purine metabolism;Pyrimidine metabolism;Drug metabolism - other enzymes;Metabolic pathways;Purine catabolism PE1 20 +NX_Q9BY41 Histone deacetylase 8 377 41758 5.36 0 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane Cornelia de Lange syndrome 5;Wilson-Turner X-linked mental retardation syndrome Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Also involved in the deacetylation of cohesin complex protein SMC3 regulating release of cohesin complexes from chromatin. May play a role in smooth muscle cell contractility. Phosphorylated by PKA on serine 39. Phosphorylation reduces deacetylase activity observed preferentially on histones H3 and H4. Belongs to the histone deacetylase family. HD type 1 subfamily. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;HDACs deacetylate histones;Notch-HLH transcription pathway;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants PE1 X +NX_Q9BY42 Replication termination factor 2 306 33887 8.87 0 Nucleoplasm;Nucleolus;Chromosome NA Replication termination factor which is a component of the elongating replisome (Probable). Required for ATR pathway signaling upon DNA damage and has a positive activity during DNA replication. Might function to facilitate fork pausing at replication fork barriers like the rDNA. May be globally required to stimulate ATR signaling after the fork stalls or encounters a lesion (Probable). Interacts with nascent DNA (PubMed:29290612). Undergoes proteasomal degradation, via DDI1 and DDI2. Removal from stalled replisomes and degradation are required for genome stability. Belongs to the rtf2 family. NA PE1 20 +NX_Q9BY43 Charged multivesicular body protein 4a 222 25098 4.65 0 Cytoplasmic vesicle membrane;Late endosome membrane NA Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. When overexpressed, membrane-assembled circular arrays of CHMP4A filaments can promote or stabilize negative curvature and outward budding. Via its interaction with PDCD6IP involved in HIV-1 p6- and p9-dependent virus release. CHMP4A/B/C are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). NA Belongs to the SNF7 family. Endocytosis;Macroautophagy;Budding and maturation of HIV virion;Endosomal Sorting Complex Required For Transport (ESCRT);Microautophagy PE1 14 +NX_Q9BY44 Eukaryotic translation initiation factor 2A 585 64990 9 0 Cytosol;Mitochondrion NA Functions in the early steps of protein synthesis of a small number of specific mRNAs. Acts by directing the binding of methionyl-tRNAi to 40S ribosomal subunits. In contrast to the eIF-2 complex, it binds methionyl-tRNAi to 40S subunits in a codon-dependent manner, whereas the eIF-2 complex binds methionyl-tRNAi to 40S subunits in a GTP-dependent manner. EIF2A is phosphorylated by MAPK3 Belongs to the WD repeat EIF2A family. NA PE1 3 +NX_Q9BY49 Peroxisomal trans-2-enoyl-CoA reductase 303 32544 8.97 0 Peroxisome NA Participates in chain elongation of fatty acids. Has no 2,4-dienoyl-CoA reductase activity. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Lipid metabolism; fatty acid biosynthesis.;Biosynthesis of unsaturated fatty acids;Peroxisome;Alpha-oxidation of phytanate;Peroxisomal protein import PE1 2 +NX_Q9BY50 Signal peptidase complex catalytic subunit SEC11C 192 21542 9.2 1 Microsome membrane;Endoplasmic reticulum membrane NA Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum. NA Belongs to the peptidase S26B family. Protein export;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP);SRP-dependent cotranslational protein targeting to membrane;Synthesis, secretion, and deacylation of Ghrelin PE1 18 +NX_Q9BY60 Gamma-aminobutyric acid receptor-associated protein-like 3 117 13976 8.71 0 Autophagosome membrane;Cytoskeleton NA Ubiquitin-like modifier involved in autophagosome formation. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (By similarity). The precursor molecule is cleaved by ATG4B to form the cytosolic form, GABARAPL3-I. This is activated by APG7L/ATG7, transferred to ATG3 and conjugated to phospholipid to form the membrane-bound form, GABARAPL3-II. ATG4B also mediates the delipidation required for GABARAPL1 recycling when autophagosomes fuse with lysosomes (By similarity). Belongs to the ATG8 family. Macroautophagy PE2 15 +NX_Q9BY64 UDP-glucuronosyltransferase 2B28 529 60906 8.84 1 Microsome membrane;Endoplasmic reticulum membrane NA UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme has glucuronidating capacity with steroid substrates such as 5-beta-androstane 3-alpha,17-beta-diol, estradiol, ADT, eugenol and bile acids. Only isoform 1 seems to be active. NA Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Glucuronidation PE1 4 +NX_Q9BY65 Nasopharyngeal carcinoma down-regulated gene protein 1 106 11990 7.72 0 NA NA NA NA NA NA PE4 3 +NX_Q9BY66 Lysine-specific demethylase 5D 1539 174073 5.59 0 Nucleolus;Nucleus NA Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. May play a role in spermatogenesis. Involved in transcriptional repression of diverse metastasis-associated genes; in this function seems to cooperate with ZMYND8. Suppresses prostate cancer cell invasion. Regulates androgen receptor (AR) transcriptional activity by demethylating H3K4me3 active transcription marks. NA Belongs to the JARID1 histone demethylase family. HDMs demethylate histones PE1 Y +NX_Q9BY67 Cell adhesion molecule 1 442 48509 4.94 1 Cell junction;Synapse;Cell membrane NA Mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner. Also mediates heterophilic cell-cell adhesion with CADM3 and NECTIN3 in a Ca(2+)-independent manner. Acts as a tumor suppressor in non-small-cell lung cancer (NSCLC) cells. Interaction with CRTAM promotes natural killer (NK) cell cytotoxicity and interferon-gamma (IFN-gamma) secretion by CD8+ cells in vitro as well as NK cell-mediated rejection of tumors expressing CADM3 in vivo. May contribute to the less invasive phenotypes of lepidic growth tumor cells. In mast cells, may mediate attachment to and promote communication with nerves. CADM1, together with MITF, is essential for development and survival of mast cells in vivo. Acts as a synaptic cell adhesion molecule and plays a role in the formation of dendritic spines and in synapse assembly (By similarity). May be involved in neuronal migration, axon growth, pathfinding, and fasciculation on the axons of differentiating neurons. May play diverse roles in the spermatogenesis including in the adhesion of spermatocytes and spermatids to Sertoli cells and for their normal differentiation into mature spermatozoa. Glycosylation at Asn-67 and Asn-101 promotes adhesive binding and synapse induction. Belongs to the nectin family. Cell adhesion molecules (CAMs);Adherens junctions interactions;Nectin/Necl trans heterodimerization PE1 11 +NX_Q9BY71 Leucine-rich repeat-containing protein 3 257 28108 6.45 1 Membrane NA NA NA Belongs to the LRRC3 family. NA PE1 21 +NX_Q9BY76 Angiopoietin-related protein 4 406 45214 9.07 0 Nucleoplasm;Extracellular matrix;Secreted;Cytoplasmic vesicle NA ANGPTL4 N-terminal chain: Mediates inactivation of the lipoprotein lipase LPL, and thereby plays an important role in the regulation of triglyceride clearance from the blood serum and in lipid metabolism (PubMed:19270337, PubMed:21398697, PubMed:27929370, PubMed:29899144). Has higher activity in LPL inactivation than the uncleaved protein (PubMed:19270337, PubMed:21398697).;Mediates inactivation of the lipoprotein lipase LPL, and thereby plays a role in the regulation of triglyceride clearance from the blood serum and in lipid metabolism (PubMed:19270337, PubMed:21398697, PubMed:27929370, PubMed:29899144). May also play a role in regulating glucose homeostasis and insulin sensitivity (Probable). Inhibits proliferation, migration, and tubule formation of endothelial cells and reduces vascular leakage (PubMed:14583458, PubMed:17068295). Upon heterologous expression, inhibits the adhesion of endothelial cell to the extracellular matrix (ECM), and inhibits the reorganization of the actin cytoskeleton, formation of actin stress fibers and focal adhesions in endothelial cells that have adhered to ANGPTL4-containing ECM (in vitro) (PubMed:17068295). Depending on context, may modulate tumor-related angiogenesis (By similarity). ANGPTL4 N-terminal chain: Forms disulfide-linked dimers and tetramers.;Cleaved into a smaller N-terminal chain and a larger chain that contains the fibrinogen C-terminal domain; both cleaved and uncleaved forms are detected in the extracellular space. The cleaved form is not present within the cell.;N-glycosylated. NA PPAR signaling pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation;Assembly of active LPL and LIPC lipase complexes PE1 19 +NX_Q9BY77 Polymerase delta-interacting protein 3 421 46089 10 0 Cytoplasm;Cytosol;Nucleus speckle;Nucleus NA Is involved in regulation of translation. Is preferentially associated with CBC-bound spliced mRNA-protein complexes during the pioneer round of mRNA translation. Contributes to enhanced translational efficiency of spliced over nonspliced mRNAs. Recruits activated ribosomal protein S6 kinase beta-1 I/RPS6KB1 to newly synthesized mRNA. Involved in nuclear mRNA export; probably mediated by association with the TREX complex. Phosphorylated at Ser-383 and Ser-385 by RPS6KB1. NA Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 22 +NX_Q9BY78 E3 ubiquitin-protein ligase RNF26 433 47737 8.86 5 Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum membrane;Cytosol NA E3 ubiquitin-protein ligase that plays a key role in endosome organization by retaining vesicles in the perinuclear cloud (PubMed:27368102). Acts as a platform for perinuclear positioning of the endosomal system by mediating ubiquitination of SQSTM1 (PubMed:27368102). Ubiquitinated SQSTM1 attracts specific vesicle-associated adapters, forming a molecular bridge that restrains cognate vesicles in the perinuclear region and organizes the endosomal pathway for efficient cargo transport (PubMed:27368102). Also acts as a regulator of type I interferon production in response to viral infection by mediating the formation of 'Lys-11'-linked polyubiquitin chains on TMEM173/STING, leading to stabilize TMEM173/STING (PubMed:25254379). Also required to limit type I interferon response by promoting autophagic degradation of IRF3 (PubMed:25254379). NA NA Protein modification; protein ubiquitination. PE1 11 +NX_Q9BY79 Membrane frizzled-related protein 579 62212 4.84 1 Apical cell membrane Microphthalmia, isolated, 5;Nanophthalmos 2 May play a role in eye development. NA NA NA PE1 11 +NX_Q9BY84 Dual specificity protein phosphatase 16 665 73102 7.24 0 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Nucleus NA Dual specificity protein phosphatase involved in the inactivation of MAP kinases. Dephosphorylates MAPK10 bound to ARRB2. Phosphorylated at Ser-446 by MAPK1/ERK2, which prevents its degradation, and thereby stabilizes it and blocks JNK MAPK activity.;(Microbial infection) Acetylated at Lys-55 by the M.tuberculosis Eis protein; this leads to the inhibition of JNK-dependent autophagy, phagosome maturation, and ROS (reactive oxygen species) generation for enhanced intracellular survival of M.tuberculosis. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. MAPK signaling pathway;RAF-independent MAPK1/3 activation;Negative regulation of MAPK pathway PE1 12 +NX_Q9BY89 Uncharacterized protein KIAA1671 1806 196711 8.69 0 Cytoskeleton NA NA NA NA NA PE1 22 +NX_Q9BYB0 SH3 and multiple ankyrin repeat domains protein 3 1731 184667 8.99 0 Cytoplasm;Dendritic spine;Cell membrane;Nucleoplasm;Postsynaptic density Schizophrenia 15;Phelan-McDermid syndrome Major scaffold postsynaptic density protein which interacts with multiple proteins and complexes to orchestrate the dendritic spine and synapse formation, maturation and maintenance. Interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and HOMER, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction through the interaction with Arp2/3 and WAVE1 complex as well as the promotion of the F-actin clusters. By way of this control of actin dynamics, participates in the regulation of developing neurons growth cone motility and the NMDA receptor-signaling. Also modulates GRIA1 exocytosis and GRM5/MGLUR5 expression and signaling to control the AMPA and metabotropic glutamate receptor-mediated synaptic transmission and plasticity. May be required at an early stage of synapse formation and be inhibited by IGF1 to promote synapse maturation. NA NA RET signaling;Neurexins and neuroligins PE1 22 +NX_Q9BYB4 Guanine nucleotide-binding protein subunit beta-like protein 1 327 35618 8.27 0 Cytosol NA NA NA NA NA PE1 22 +NX_Q9BYC2 Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial 517 56140 6.73 0 Mitochondrion NA Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate (By similarity). NA Belongs to the 3-oxoacid CoA-transferase family. Ketone metabolism; succinyl-CoA degradation; acetoacetyl-CoA from succinyl-CoA: step 1/1.;Synthesis and degradation of ketone bodies;Valine, leucine and isoleucine degradation;Butanoate metabolism;Utilization of Ketone Bodies PE1 1 +NX_Q9BYC5 Alpha-(1,6)-fucosyltransferase 575 66516 7.36 1 Nucleoplasm;Golgi apparatus;Cytosol;Golgi stack membrane Congenital disorder of glycosylation with defective fucosylation 1 Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans. Tyrosine phosphorylated by PKDCC/VLK. Belongs to the glycosyltransferase 23 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Glycosaminoglycan biosynthesis - keratan sulfate;Metabolic pathways;Reactions specific to the complex N-glycan synthesis pathway PE1 14 +NX_Q9BYC8 39S ribosomal protein L32, mitochondrial 188 21405 9.78 0 Mitochondrion NA NA NA Belongs to the bacterial ribosomal protein bL32 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 7 +NX_Q9BYC9 39S ribosomal protein L20, mitochondrial 149 17443 10.87 0 Mitochondrion NA NA NA Belongs to the bacterial ribosomal protein bL20 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 1 +NX_Q9BYD1 39S ribosomal protein L13, mitochondrial 178 20692 9.18 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uL13 family. Ribosome;Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 8 +NX_Q9BYD2 39S ribosomal protein L9, mitochondrial 267 30243 10.09 0 Mitochondrion NA NA NA Belongs to the bacterial ribosomal protein bL9 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 1 +NX_Q9BYD3 39S ribosomal protein L4, mitochondrial 311 34919 9.73 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uL4 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 19 +NX_Q9BYD5 Cornifelin 112 12376 5.7 0 Cytoplasm;Cytoskeleton NA Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia. NA Belongs to the cornifelin family. NA PE1 19 +NX_Q9BYD6 39S ribosomal protein L1, mitochondrial 325 36909 8.88 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uL1 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 4 +NX_Q9BYD9 Actin-related protein T3 372 41008 5.53 0 Nucleoplasm;Cytoplasm;Nucleus;Cytoskeleton NA NA NA Belongs to the actin family. NA PE1 3 +NX_Q9BYE0 Transcription factor HES-7 225 24899 10.49 0 Nucleoplasm;Nucleus;Nucleolus Spondylocostal dysostosis 4, autosomal recessive Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock, which is essential for coordinated somite segmentation (By similarity). NA NA NA PE1 17 +NX_Q9BYE2 Transmembrane protease serine 13 586 63167 8.96 1 Membrane NA NA NA Belongs to the peptidase S1 family. Influenza A PE1 11 +NX_Q9BYE3 Late cornified envelope protein 3D 92 9444 9.03 0 NA NA Precursors of the cornified envelope of the stratum corneum. NA Belongs to the LCE family. Formation of the cornified envelope PE1 1 +NX_Q9BYE4 Small proline-rich protein 2G 73 8158 8.3 0 Cytoplasm NA Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane (By similarity). NA Belongs to the cornifin (SPRR) family. Formation of the cornified envelope PE1 1 +NX_Q9BYE7 Polycomb group RING finger protein 6 350 39047 4.92 0 Nucleus NA Transcriptional repressor (PubMed:12167161). May modulate the levels of histone H3K4Me3 by activating KDM5D histone demethylase (PubMed:17320162). Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:12167161). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332). Phosphorylated during mitosis. Phosphorylated on Ser-30 by CDK7 in vitro. NA Transcriptional Regulation by E2F6 PE1 10 +NX_Q9BYE9 Cadherin-related family member 2 1310 141543 4.31 1 Apical cell membrane;Cell junction;Microvillus membrane NA Intermicrovillar adhesion molecule that forms, via its extracellular domain, calcium-dependent heterophilic complexes with CDHR5 on adjacent microvilli. Thereby, controls the packing of microvilli at the apical membrane of epithelial cells. Through its cytoplasmic domain, interacts with microvillus cytoplasmic proteins to form the intermicrovillar adhesion complex/IMAC. This complex plays a central role in microvilli and epithelial brush border differentiation (PubMed:24725409). May also play a role in cell-cell adhesion and contact inhibition in epithelial cells (PubMed:12117771). NA NA NA PE1 5 +NX_Q9BYF1 Angiotensin-converting enzyme 2 805 92463 5.36 1 Cytoplasm;Secreted;Cell membrane NA (Microbial infection) Acts as a receptor for SARS coronavirus/SARS-CoV.;Carboxypeptidase which converts angiotensin I to angiotensin 1-9, a peptide of unknown function, and angiotensin II to angiotensin 1-7, a vasodilator (PubMed:10969042, PubMed:10924499, PubMed:11815627). Also able to hydrolyze apelin-13 and dynorphin-13 with high efficiency (PubMed:11815627). By cleavage of angiotensin II, may be an important regulator of heart function (PubMed:10969042, PubMed:10924499). By cleavage of angiotensin II, may also have a protective role in acute lung injury (By similarity). Plays an important role in amino acid transport by acting as binding partner of amino acid transporter SL6A19 in intestine, regulating trafficking, expression on the cell surface, and its catalytic activity (PubMed:18424768, PubMed:19185582).;(Microbial infection) Acts as a receptor for Human coronavirus NL63/HCoV-NL63. N-glycosylation on Asn-90 may limit SARS infectivity.;Proteolytic cleavage by ADAM17 generates a secreted form. Also cleaved by serine proteases: TMPRSS2, TMPRSS11D and HPN/TMPRSS1. Belongs to the peptidase M2 family. Renin-angiotensin system;Protein digestion and absorption;Metabolism of Angiotensinogen to Angiotensins PE1 X +NX_Q9BYG0 Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase 378 44053 8 1 Nucleolus;Golgi apparatus membrane NA Beta-1,3-N-acetylglucosaminyltransferase that plays a key role in the synthesis of lacto- or neolacto-series carbohydrate chains on glycolipids, notably by participating in biosynthesis of HNK-1 and Lewis X carbohydrate structures. Has strong activity toward lactosylceramide (LacCer) and neolactotetraosylceramide (nLc(4)Cer; paragloboside), resulting in the synthesis of Lc(3)Cer and neolactopentaosylceramide (nLc(5)Cer), respectively. Probably plays a central role in regulating neolacto-series glycolipid synthesis during embryonic development. NA Belongs to the glycosyltransferase 31 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;O-linked glycosylation of mucins PE1 3 +NX_Q9BYG3 MKI67 FHA domain-interacting nucleolar phosphoprotein 293 34222 9.88 0 Nucleus;Nucleolus;Chromosome NA NA Sequentially phosphorylated on Thr-238, Thr-234 and Ser-230. Thr-234 is phosphorylated only when Thr-238 is phosphorylated. Likewise, phosphorylation at Ser-230 requires that Thr-234 and Thr-238 are phosphorylated. Phosphorylation enhances MKI67 binding. NA NA PE1 2 +NX_Q9BYG4 Partitioning defective 6 homolog gamma 376 40883 8.36 0 Cytoplasm;Tight junction;Cell membrane NA Adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (By similarity). NA Belongs to the PAR6 family. Endocytosis;Tight junction;Tight junction interactions PE1 18 +NX_Q9BYG5 Partitioning defective 6 homolog beta 372 41182 5.37 0 Cytoplasm;Tight junction;Cytosol;Cell membrane NA Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins. NA Belongs to the PAR6 family. Endocytosis;Tight junction;Tight junction interactions PE1 20 +NX_Q9BYG7 Protein maestro 248 29054 9.93 0 Nucleolus NA NA NA NA NA PE2 18 +NX_Q9BYG8 Gasdermin-C 508 57692 5.55 0 Cytosol;Mitochondrion;Cell membrane NA The N-terminal moiety promotes pyroptosis. May be acting by homooligomerizing within the membrane and forming pores (PubMed:27281216). The physiological relevance of this observation is unknown (Probable). NA Belongs to the gasdermin family. NA PE1 8 +NX_Q9BYH1 Seizure 6-like protein 1024 111782 4.68 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA May contribute to specialized endoplasmic reticulum functions in neurons. O-glycosylated. Belongs to the SEZ6 family. NA PE1 22 +NX_Q9BYH8 NF-kappa-B inhibitor zeta 718 78061 6.15 0 Cytosol;Nucleus speckle;Nucleus NA Involved in regulation of NF-kappa-B transcription factor complexes. Inhibits NF-kappa-B activity without affecting its nuclear translocation upon stimulation. Inhibits DNA-binding of RELA and NFKB1/p50, and of the NF-kappa-B p65-p50 heterodimer and the NF-kappa-B p50-p50 homodimer. Seems also to activate NF-kappa-B-mediated transcription. In vitro, upon association with NFKB1/p50 has transcriptional activation activity and, together with NFKB1/p50 and RELA, is recruited to LCN2 promoters. Promotes transcription of LCN2 and DEFB4. Is recruited to IL-6 promoters and activates IL-6 but decreases TNF-alpha production in response to LPS. Seems to be involved in the induction of inflammatory genes activated through TLR/IL-1 receptor signaling. May promote apoptosis (By similarity). Involved in the induction of T helper 17 cells (Th17) differentiation upon recognition of antigen by T cell antigen receptor (TCR) (By similarity). NA NA NA PE1 3 +NX_Q9BYI3 Hyccin 521 57625 8.45 0 Cytosol;Cell membrane Leukodystrophy, hypomyelinating, 5 Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (PubMed:26571211). FAM126A plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P (PubMed:26571211). Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system (PubMed:26571211, PubMed:16951682). May also have a role in the beta-catenin/Lef signaling pathway (Probable). NA Belongs to the FAM126 family. NA PE1 7 +NX_Q9BYJ0 Fibroblast growth factor-binding protein 2 223 24581 9.15 0 Extracellular space NA NA NA Belongs to the fibroblast growth factor-binding protein family. FGFR2b ligand binding and activation PE1 4 +NX_Q9BYJ1 Hydroperoxide isomerase ALOXE3 711 80543 6.53 0 Cytoplasm;Cytosol;Cell membrane Ichthyosis, congenital, autosomal recessive 3 Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced dioxygenase activity compared to other lipoxygenases. The hydroperoxide isomerase activity catalyzes the isomerization of hydroperoxides, derived from arachidonic and linoleic acid by ALOX12B, into hepoxilin-type epoxyalcohols. The dioxygenase activity requires a step of activation of the enzyme by molecular oxygen. In presence of oxygen, oxygenates polyunsaturated fatty acids, including arachidonic acid, to produce fatty acid hydroperoxides. In the skin, acts downstream of ALOX12B on the linoleate moiety of esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyceramide to membrane proteins. Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss. In parallel, it may have a signaling function in barrier formation through the production of hepoxilins metabolites. Plays also a role in adipocyte differentiation through hepoxilin A3 and hepoxilin B3 production which in turn activate PPARG. Through the production of hepoxilins in the spinal cord, it may regulate inflammatory tactile allodynia. NA Belongs to the lipoxygenase family. Lipid metabolism; sphingolipid metabolism.;Lipid metabolism; hydroperoxy eicosatetraenoic acid biosynthesis.;Synthesis of 12-eicosatetraenoic acid derivatives PE1 17 +NX_Q9BYJ4 Tripartite motif-containing protein 34 488 56864 7.43 0 Cytoplasm;Centrosome;Nucleolus NA May function as antiviral protein and may contribute to the defense against retroviral infections. NA Belongs to the TRIM/RBCC family. Interferon gamma signaling PE1 11 +NX_Q9BYJ9 YTH domain-containing family protein 1 559 60874 8.86 0 Cytoplasm NA Specifically recognizes and binds N6-methyladenosine (m6A)-containing mRNAs, and promotes mRNA translation efficiency (PubMed:24284625, PubMed:26046440, PubMed:26318451). M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in the efficiency of mRNA splicing, processing and stability (PubMed:24284625). Acts as a regulator of mRNA translation efficiency: promotes ribosome loading to m6A-containing mRNAs and interacts with translation initiation factors eIF3 (EIF3A or EIF3B) to facilitate translation initiation (PubMed:26046440). Required to facilitate learning and memory formation in the hippocampus by enhancing protein synthesis upon neuronal stimulation: in response to neuronal stimulation, binds to m6A-containing neuronal mRNAs, promoting their translation, thereby contributing to learning and memory (By similarity). Acts as a regulator of axon guidance by binding to m6A-containing ROBO3 transcripts, thereby promoting their translation (By similarity). Acts as a negative regulator of antigen cross-presentation in myeloid dendritic cells (By similarity). Acts by binding and promoting translation of m6A-containing transcripts encoding proteins involved in lysosomal degradation and phagosome maturation, leading to increased antigen degradation in myeloid dendritic cells (By similarity). In the context of tumorigenesis, negative regulation of antigen cross-presentation limits the anti-tumor response by reducing efficiency of tumor-antigen cross-presentation (By similarity). NA NA NA PE1 20 +NX_Q9BYK8 Helicase with zinc finger domain 2 2649 294651 7.36 0 Nucleus NA Helicase that acts as a transcriptional coactivator for a number of nuclear receptors including PPARA, PPARG, THRA, THRB and RXRA. NA Belongs to the DNA2/NAM7 helicase family. PPARA activates gene expression;RORA activates gene expression;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;Activation of gene expression by SREBF (SREBP);Transcriptional regulation of white adipocyte differentiation;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) PE1 20 +NX_Q9BYL1 Sterile alpha motif domain-containing protein 10 202 22770 10.02 0 Nucleoplasm NA NA NA NA NA PE1 20 +NX_Q9BYM8 RanBP-type and C3HC4-type zinc finger-containing protein 1 510 57572 5.47 0 NA Polyglucosan body myopathy 1 with or without immunodeficiency E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, such as UBE2L3/UBCM4, and then transfers it to substrates. Functions as an E3 ligase for oxidized IREB2 and both heme and oxygen are necessary for IREB2 ubiquitination. Promotes ubiquitination of TAB2 and IRF3 and their degradation by the proteasome. Component of the LUBAC complex which conjugates linear ('Met-1'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways. Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation. LUBAC is recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex. Together with OTULIN, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis. Binds polyubiquitin of different linkage types. Auto-ubiquitinated. Auto-ubiquitination leads to degradation by the proteasome (By similarity).;Phosphorylated. In vitro, phosphorylation inhibits auto-ubiquitination activity (By similarity). Belongs to the RBR family. Antigen processing: Ubiquitination & Proteasome degradation;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway PE1 20 +NX_Q9BYN0 Sulfiredoxin-1 137 14259 7.92 0 Cytoplasm;Nucleus NA Contributes to oxidative stress resistance by reducing cysteine-sulfinic acid formed under exposure to oxidants in the peroxiredoxins PRDX1, PRDX2, PRDX3 and PRDX4. Does not act on PRDX5 or PRDX6. May catalyze the reduction in a multi-step process by acting both as a specific phosphotransferase and a thioltransferase. NA Belongs to the sulfiredoxin family. NA PE1 20 +NX_Q9BYN7 Zinc finger protein 341 854 92728 9.11 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus Hyper-IgE recurrent infection syndrome 3, autosomal recessive Transcriptional activator of STAT3 involved in the regulation of immune homeostasis. Also able to activate STAT1 transcription. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 20 +NX_Q9BYN8 28S ribosomal protein S26, mitochondrial 205 24212 10.39 0 Nucleoplasm;Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mS26 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 20 +NX_Q9BYP7 Serine/threonine-protein kinase WNK3 1800 198416 5.77 0 Cytoplasm;Cytoplasmic vesicle NA Stimulate the activity of SLC12A1, SLC12A2 and SLC12A3 and inhibit the activity of SLC12A4, SLC12A5, SLC12A6 and SLC12A7. According to PubMed:19470686, isoform 1 inhibits the activity of SLC12A3.;Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively (PubMed:16275913, PubMed:16275911, PubMed:16357011). Phosphorylates WNK4. Regulates the phosphorylation of SLC12A1 and SLC12A2. Increases Ca(2+) influx mediated by TRPV5 and TRPV6 by enhancing their membrane expression level via a kinase-dependent pathway (PubMed:18768590). Inhibits the activity of KCNJ1 by decreasing its expression at the cell membrane in a non-catalytic manner. Ubiquitinated by the BCR(KLHL2) complex, leading to its degradation.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily. Stimuli-sensing channels PE1 X +NX_Q9BYP8 Keratin-associated protein 17-1 105 9504 3.83 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA NA Keratinization PE2 17 +NX_Q9BYP9 Keratin-associated protein 9-9 154 16266 8.22 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 9 family. Keratinization PE1 17 +NX_Q9BYQ0 Keratin-associated protein 9-8 159 16723 8.04 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 9 family. Keratinization PE1 17 +NX_Q9BYQ2 Keratin-associated protein 9-4 154 16378 7.95 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 9 family. Keratinization PE1 17 +NX_Q9BYQ3 Keratin-associated protein 9-3 159 16854 7.93 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 9 family. Keratinization PE1 17 +NX_Q9BYQ4 Keratin-associated protein 9-2 174 18287 8.15 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 9 family. Keratinization PE1 17 +NX_Q9BYQ5 Keratin-associated protein 4-6 205 21825 8.43 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 4 family. Keratinization PE1 17 +NX_Q9BYQ6 Keratin-associated protein 4-11 195 20927 8.4 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 4 family. Keratinization PE1 17 +NX_Q9BYQ7 Keratin-associated protein 4-1 146 15241 8.15 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 4 family. Keratinization PE1 17 +NX_Q9BYQ8 Keratin-associated protein 4-9 210 22405 8.29 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 4 family. Keratinization PE1 17 +NX_Q9BYQ9 Keratin-associated protein 4-8 185 19627 8.21 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 4 family. Keratinization PE1 17 +NX_Q9BYR0 Keratin-associated protein 4-7 210 22535 8.31 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 4 family. Keratinization PE1 17 +NX_Q9BYR2 Keratin-associated protein 4-5 181 19363 8.25 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 4 family. Keratinization PE1 17 +NX_Q9BYR3 Keratin-associated protein 4-4 166 18023 8.39 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 4 family. Keratinization PE1 17 +NX_Q9BYR4 Keratin-associated protein 4-3 195 20504 8.43 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 4 family. Keratinization PE1 17 +NX_Q9BYR5 Keratin-associated protein 4-2 136 14462 8.31 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 4 family. Keratinization PE1 17 +NX_Q9BYR6 Keratin-associated protein 3-3 98 10365 5.4 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 3 family. Keratinization PE1 17 +NX_Q9BYR7 Keratin-associated protein 3-2 98 10407 5.4 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 3 family. Keratinization PE1 17 +NX_Q9BYR8 Keratin-associated protein 3-1 98 10539 5.99 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 3 family. Keratinization PE1 17 +NX_Q9BYR9 Keratin-associated protein 2-4 128 13480 8.32 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity). NA Belongs to the KRTAP type 2 family. Keratinization PE1 17 +NX_Q9BYS1 Keratin-associated protein 1-5 174 18010 6.59 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. NA Belongs to the KRTAP type 1 family. Keratinization PE1 17 +NX_Q9BYS8 Leucine-rich repeat-containing protein 2 371 42943 5.79 0 Nucleoplasm NA NA NA NA NA PE1 3 +NX_Q9BYT1 Solute carrier family 17 member 9 436 47482 7.96 10 Membrane;Nucleoplasm Porokeratosis 8, disseminated superficial actinic type Involved in vesicular storage and exocytosis of ATP. May accumulate ATP and other nucleotides in secretory vesicles such as adrenal chromaffin granules and synaptic vesicles. NA Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. NA PE1 20 +NX_Q9BYT3 Serine/threonine-protein kinase 33 514 57831 6.6 0 Nucleoplasm;Cytosol;Perinuclear region;Nucleolus NA Serine/threonine protein kinase which phosphorylates VIME. May play a specific role in the dynamic behavior of the intermediate filament cytoskeleton by phosphorylation of VIME (By similarity). Not essential for the survival of KRAS-dependent AML cell lines. Autophosphorylated.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. NA PE1 11 +NX_Q9BYT5 Keratin-associated protein 2-2 123 12957 8.26 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity). NA Belongs to the KRTAP type 2 family. Keratinization PE2 17 +NX_Q9BYT8 Neurolysin, mitochondrial 704 80652 6.21 0 Cytoplasm;Mitochondrion intermembrane space;Mitochondrion NA Hydrolyzes oligopeptides such as neurotensin, bradykinin and dynorphin A. NA Belongs to the peptidase M3 family. Renin-angiotensin system;Peptide ligand-binding receptors PE1 5 +NX_Q9BYT9 Anoctamin-3 981 114657 8.87 8 Cell membrane Dystonia 24 Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide (By similarity). Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (PubMed:21984732). NA Belongs to the anoctamin family. Stimuli-sensing channels PE1 11 +NX_Q9BYU1 Pre-B-cell leukemia transcription factor 4 374 40854 9.05 0 Cytoplasmic vesicle;Nucleus NA NA NA Belongs to the TALE/PBX homeobox family. NA PE1 19 +NX_Q9BYU5 Keratin-associated protein 2-1 128 13514 8.32 0 NA NA In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity). NA Belongs to the KRTAP type 2 family. Keratinization PE2 17 +NX_Q9BYV1 Alanine--glyoxylate aminotransferase 2, mitochondrial 514 57156 8.08 0 Mitochondrion NA Can metabolize asymmetric dimethylarginine (ADMA) via transamination to alpha-keto-delta-(NN-dimethylguanidino) valeric acid (DMGV). ADMA is a potent inhibitor of nitric-oxide (NO) synthase, and this activity provides mechanism through which the kidney regulates blood pressure. NA Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family. Alanine, aspartate and glutamate metabolism;Glycine, serine and threonine metabolism;Metabolic pathways;Pyrimidine catabolism;Glyoxylate metabolism and glycine degradation PE1 5 +NX_Q9BYV2 Tripartite motif-containing protein 54 358 40301 5.15 0 Cytosol;Z line;Cytoskeleton;Cell membrane NA May bind and stabilize microtubules during myotubes formation. NA NA NA PE1 2 +NX_Q9BYV6 Tripartite motif-containing protein 55 548 60466 4.74 0 Golgi apparatus;Cytoplasm;Cytosol;Nucleus NA May regulate gene expression and protein turnover in muscle cells. NA NA NA PE1 8 +NX_Q9BYV7 Beta,beta-carotene 9',10'-oxygenase 579 65674 8.65 0 Mitochondrion NA Asymmetrically cleaves beta-carotene at the 9',10' double bond resulting in the formation of beta-apo-10'-carotenal and beta-ionone. Besides beta-carotene, lycopene is also oxidatively cleaved. The apocarotenals formed by this enzyme may be the precursors for the biosynthesis of retinoic acid or exert unknown physiological effects. NA Belongs to the carotenoid oxygenase family. Retinoid metabolism and transport PE1 11 +NX_Q9BYV8 Centrosomal protein of 41 kDa 373 41368 8.46 0 Centrosome;Cilium;Cilium basal body Joubert syndrome 15 Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium. NA Belongs to the CEP41 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 7 +NX_Q9BYV9 Transcription regulator protein BACH2 841 92537 5 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Immunodeficiency 60 Transcriptional regulator that acts as repressor or activator (By similarity). Binds to Maf recognition elements (MARE) (By similarity). Plays an important role in coordinating transcription activation and repression by MAFK (By similarity). Induces apoptosis in response to oxidative stress through repression of the antiapoptotic factor HMOX1 (PubMed:17018862). Positively regulates the nuclear import of actin (By similarity). Is a key regulator of adaptive immunity, crucial for the maintenance of regulatory T-cell function and B-cell maturation (PubMed:28530713). The reversible disulfide bond may provide a mechanism to regulate the activity in oxidative stress responses.;Phosphorylation at Ser-521 downstream of the PI-3K pathway promotes nuclear export. Belongs to the bZIP family. CNC subfamily. NA PE1 6 +NX_Q9BYW1 Solute carrier family 2, facilitated glucose transporter member 11 496 53703 8.57 12 Nucleoplasm;Cell junction;Cell membrane NA Facilitative glucose transporter. NA Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. Cellular hexose transport PE1 22 +NX_Q9BYW2 Histone-lysine N-methyltransferase SETD2 2564 287597 5.8 0 Cytosol;Nucleus speckle;Nucleus;Chromosome Luscan-Lumish syndrome;Leukemia, acute lymphoblastic;Leukemia, acute myelogenous;Renal cell carcinoma Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate (PubMed:16118227, PubMed:19141475, PubMed:21526191, PubMed:21792193, PubMed:23043551, PubMed:27474439). Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation (By similarity). Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A (PubMed:23325844). Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction (PubMed:23622243). Required for DNA double-strand break repair in response to DNA damage: acts by mediating formation of H3K36me3, promoting recruitment of RAD51 and DNA repair via homologous recombination (HR) (PubMed:24843002). Acts as a tumor suppressor (PubMed:24509477). H3K36me3 also plays an essential role in the maintenance of a heterochromatic state, by recruiting DNA methyltransferase DNMT3A (PubMed:27317772). H3K36me3 is also enhanced in intron-containing genes, suggesting that SETD2 recruitment is enhanced by splicing and that splicing is coupled to recruitment of elongating RNA polymerase (PubMed:21792193). Required during angiogenesis (By similarity). Required for endoderm development by promoting embryonic stem cell differentiation toward endoderm: acts by mediating formation of H3K36me3 in distal promoter regions of FGFR3, leading to regulate transcription initiation of FGFR3 (By similarity). In addition to histones, also mediates methylation of other proteins, such as tubulins and STAT1 (PubMed:27518565, PubMed:28753426). Trimethylates 'Lys-40' of alpha-tubulins such as TUBA1B (alpha-TubK40me3); alpha-TubK40me3 is required for normal mitosis and cytokinesis and may be a specific tag in cytoskeletal remodeling (PubMed:27518565). Involved in interferon-alpha-induced antiviral defense by mediating both monomethylation of STAT1 at 'Lys-525' and catalyzing H3K36me3 on promoters of some interferon-stimulated genes (ISGs) to activate gene transcription (PubMed:28753426).;(Microbial infection) Recruited to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression. May be automethylated. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily. Lysine degradation;PKMTs methylate histone lysines PE1 3 +NX_Q9BYW3 Beta-defensin 126 111 12174 9.47 0 Secreted NA Highly glycosylated atypical beta-defensin involved in several aspects of sperm function. Facilitates sperm transport in the female reproductive tract and contributes to sperm protection against immunodetection; both functions are probably implicating the negative surface charge provided by its O-linked oligosaccharides in the sperm glycocalyx. Involved in binding of sperm to oviductal epithelial cells to form a sperm reservoir until ovulation. Release from the sperm surface during capacitation and ovaluation by an elevation of oviductal fluid pH is unmasking other surface components and allows sperm to penetrate the cumulus matrix and bind to the zona pellucida of the oocyte (By similarity). In vitro has antimicrobial activity and may inhibit LPS-mediated inflammation (PubMed:19373462, PubMed:23229569). O-glycosylated; glycans contain alpha(2,3)-linked sialic acids. Belongs to the beta-defensin family. Beta defensins;Defensins PE1 20 +NX_Q9BYX2 TBC1 domain family member 2A 928 105414 6.15 0 Cytoplasm;Cell junction;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA Acts as GTPase-activating protein for RAB7A. Signal effector acting as a linker between RAC1 and RAB7A, leading to RAB7A inactivation and subsequent inhibition of cadherin degradation and reduced cell-cell adhesion. NA NA TBC/RABGAPs PE1 9 +NX_Q9BYX4 Interferon-induced helicase C domain-containing protein 1 1025 116689 5.38 0 Cytoplasm;Nucleus Singleton-Merten syndrome 1;Aicardi-Goutieres syndrome 7;Diabetes mellitus, insulin-dependent, 19 Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and proinflammatory cytokines. Its ligands include mRNA lacking 2'-O-methylation at their 5' cap and long-dsRNA (>1 kb in length). Upon ligand binding it associates with mitochondria antiviral signaling protein (MAVS/IPS1) which activates the IKK-related kinases: TBK1 and IKBKE which phosphorylate interferon regulatory factors: IRF3 and IRF7 which in turn activate transcription of antiviral immunological genes, including interferons (IFNs); IFN-alpha and IFN-beta. Responsible for detecting the Picornaviridae family members such as encephalomyocarditis virus (EMCV) and mengo encephalomyocarditis virus (ENMG). Can also detect other viruses such as dengue virus (DENV), west Nile virus (WNV), and reovirus. Also involved in antiviral signaling in response to viruses containing a dsDNA genome, such as vaccinia virus. Plays an important role in amplifying innate immune signaling through recognition of RNA metabolites that are produced during virus infection by ribonuclease L (RNase L). May play an important role in enhancing natural killer cell function and may be involved in growth inhibition and apoptosis in several tumor cell lines. Ubiquitinated by RNF125, leading to its degradation by the proteasome (PubMed:17460044). USP17/UPS17L2-dependent deubiquitination positively regulates the receptor (PubMed:20368735). Ubiquitinated by TRIM25 via 'Lys-63'-linked ubiquitination, promoting activation of IFIH1/MDA5 (PubMed:30193849).;During apoptosis, processed into 3 cleavage products. The helicase-containing fragment, once liberated from the CARD domains, translocate from the cytoplasm to the nucleus. The processed protein significantly sensitizes cells to DNA degradation.;Sumoylated. Sumoylation positively regulates its role in type I interferon induction and is enhanced by PIAS2-beta. Belongs to the helicase family. RLR subfamily. RIG-I-like receptor signaling pathway;Measles;Influenza A;Herpes simplex infection;TRAF6 mediated IRF7 activation;TRAF6 mediated NF-kB activation;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Negative regulators of DDX58/IFIH1 signaling;TRAF3-dependent IRF activation pathway;NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10;Ub-specific processing proteases;Ovarian tumor domain proteases PE1 2 +NX_Q9BYX7 Putative beta-actin-like protein 3 375 42016 5.91 0 Cytoskeleton NA NA Oxidation of Met-44 and Met-47 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promote actin repolymerization (By similarity).;Monomethylation at Lys-84 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration. Belongs to the actin family. Platelet degranulation PE5 2 +NX_Q9BYZ2 L-lactate dehydrogenase A-like 6B 381 41943 8.88 0 NA NA NA NA Belongs to the LDH/MDH superfamily. LDH family. Fermentation; pyruvate fermentation to lactate; (S)-lactate from pyruvate: step 1/1.;Glycolysis / Gluconeogenesis;Cysteine and methionine metabolism;Pyruvate metabolism;Propanoate metabolism;Metabolic pathways;Pyruvate metabolism PE1 15 +NX_Q9BYZ6 Rho-related BTB domain-containing protein 2 727 82626 6.27 0 Cell membrane Epileptic encephalopathy, early infantile, 64 NA NA Belongs to the small GTPase superfamily. Rho family. Ubiquitin mediated proteolysis;Rho GTPase cycle PE1 8 +NX_Q9BYZ8 Regenerating islet-derived protein 4 158 18230 9.33 0 Secreted NA Calcium-independent lectin displaying mannose-binding specificity and able to maintain carbohydrate recognition activity in an acidic environment. May be involved in inflammatory and metaplastic responses of the gastrointestinal epithelium. NA NA NA PE1 1 +NX_Q9BZ11 Disintegrin and metalloproteinase domain-containing protein 33 813 87739 6.54 1 Membrane;Nucleus speckle;Cell membrane Asthma NA The precursor is cleaved by a furin endopeptidase. NA NA PE1 20 +NX_Q9BZ19 Ankyrin repeat domain-containing protein 60 345 37630 9.2 0 NA NA NA NA NA NA PE1 20 +NX_Q9BZ23 Pantothenate kinase 2, mitochondrial 570 62681 9.39 0 Cytoplasm;Cytosol;Mitochondrion Neurodegeneration with brain iron accumulation 1;Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration May be the master regulator of the CoA biosynthesis. NA Belongs to the type II pantothenate kinase family. Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 1/5.;Pantothenate and CoA biosynthesis;Metabolic pathways;Coenzyme A biosynthesis PE1 20 +NX_Q9BZ29 Dedicator of cytokinesis protein 9 2069 236446 7.25 0 Endomembrane system NA Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP. Overexpression induces filopodia formation. NA Belongs to the DOCK family. Factors involved in megakaryocyte development and platelet production PE1 13 +NX_Q9BZ67 FERM domain-containing protein 8 464 51218 5.83 0 Nucleoplasm;Cytosol;Nucleolus;Cell membrane NA Promotes the cell surface stability of iRhom1/RHBDF1 and iRhom2/RHBDF2 and prevents their degradation via the endolysosomal pathway. By acting on iRhoms, involved in ADAM17-mediated shedding of TNF, amphiregulin/AREG, HBEGF and TGFA from the cell surface (PubMed:29897333, PubMed:29897336). Negatively regulates Wnt signaling, possibly by antagonizing the recruitment of AXIN1 to LRP6 (PubMed:19572019). NA NA NA PE1 11 +NX_Q9BZ68 Putative FERM domain-containing protein FRMD8P1 369 41136 5.54 0 NA NA NA NA NA NA PE5 X +NX_Q9BZ71 Membrane-associated phosphatidylinositol transfer protein 3 974 106781 6.69 0 Endomembrane system;Cell membrane Cone-rod dystrophy 5 Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions. NA Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily. Synthesis of PI PE1 17 +NX_Q9BZ72 Membrane-associated phosphatidylinositol transfer protein 2 1349 148933 6.72 0 Cytoplasmic vesicle;Endomembrane system NA Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro). Binds calcium ions. NA Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily. Synthesis of PI PE1 12 +NX_Q9BZ76 Contactin-associated protein-like 3 1288 140690 8.02 1 Secreted;Cell membrane NA NA NA Belongs to the neurexin family. NA PE1 9 +NX_Q9BZ81 Melanoma-associated antigen B5 275 31906 7.56 0 NA NA NA NA NA NA PE2 X +NX_Q9BZ95 Histone-lysine N-methyltransferase NSD3 1437 161613 8.57 0 Nucleoplasm;Mitochondrion;Nucleus;Chromosome NA Histone methyltransferase. Preferentially methylates 'Lys-4' and 'Lys-27' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for transcriptional repression. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily. Lysine degradation;PKMTs methylate histone lysines PE1 8 +NX_Q9BZ97 Putative transcript Y 13 protein 58 6256 4.45 1 Membrane NA NA NA NA NA PE5 Y +NX_Q9BZ98 Putative transcript Y 12 protein 90 10490 9.55 0 NA NA NA NA NA NA PE5 Y +NX_Q9BZA0 Putative transcript Y 10 protein 68 7782 9.63 0 NA NA NA NA NA NA PE5 Y +NX_Q9BZA5 Putative gamma-taxilin 2 131 14632 5.22 0 NA NA NA NA Belongs to the taxilin family. NA PE5 Y +NX_Q9BZA7 Protocadherin-11 X-linked 1347 147558 5.04 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. NA NA NA PE1 X +NX_Q9BZA8 Protocadherin-11 Y-linked 1340 146775 5.03 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. NA NA NA PE1 Y +NX_Q9BZB8 Cytoplasmic polyadenylation element-binding protein 1 566 62595 7.55 0 Cytoplasm;Membrane;Nucleoplasm;P-body;Postsynaptic density;Synapse;Dendrite;Cytosol;Cytoplasmic granule;Nucleus NA Sequence-specific RNA-binding protein that regulates mRNA cytoplasmic polyadenylation and translation initiation during oocyte maturation, early development and at postsynapse sites of neurons. Binds to the cytoplasmic polyadenylation element (CPE), an uridine-rich sequence element (consensus sequence 5'-UUUUUAU-3') within the mRNA 3'-UTR. RNA binding results in a clear conformational change analogous to the Venus fly trap mechanism (PubMed:24990967). In absence of phosphorylation and in association with TACC3 is also involved as a repressor of translation of CPE-containing mRNA; a repression that is relieved by phosphorylation or degradation (By similarity). Involved in the transport of CPE-containing mRNA to dendrites; those mRNAs may be transported to dendrites in a translationally dormant form and translationally activated at synapses (By similarity). Its interaction with APLP1 promotes local CPE-containing mRNA polyadenylation and translation activation (By similarity). Induces the assembly of stress granules in the absence of stress. Required for cell cycle progression, specifically for prophase entry (PubMed:26398195). Phosphorylated on serine/threonine residues by AURKA within positions 166 and 197. Phosphorylation and dephosphorylation on Thr-172 regulates cytoplasmic polyadenylation and translation of CPE-containing mRNAs. Phosphorylation on Thr-172 by AURKA and CAMK2A activates CPEB1. Phosphorylation on Thr-172 may be promoted by APLP1. Phosphorylation increases binding to RNA (By similarity).;CPEB1 is phosphorylated by AURKA (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the RRM CPEB family. Oocyte meiosis;Dorso-ventral axis formation;Progesterone-mediated oocyte maturation PE1 15 +NX_Q9BZC1 CUGBP Elav-like family member 4 486 51966 8.11 0 Nucleoplasm;Cytoplasm;Nucleus NA RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Promotes exclusion of both the smooth muscle (SM) and non-muscle (NM) exons in actinin pre-mRNAs. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA. NA Belongs to the CELF/BRUNOL family. NA PE1 18 +NX_Q9BZC7 ATP-binding cassette sub-family A member 2 2435 269833 6.37 14 Lysosome membrane;Endosome membrane NA Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development. Methylated at Gln-271 by N6AMT1. Belongs to the ABC transporter superfamily. ABCA family. ABC transporters;Lysosome;ABC transporters in lipid homeostasis PE1 9 +NX_Q9BZD2 Equilibrative nucleoside transporter 3 475 51815 7.95 11 Golgi apparatus;Lysosome membrane;Membrane;Cytoplasmic vesicle;Late endosome membrane Histiocytosis-lymphadenopathy plus syndrome Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine. NA Belongs to the SLC29A/ENT transporter (TC 2.A.57) family. Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane;Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS) PE1 10 +NX_Q9BZD3 Putative GRINL1B complex locus protein 2 368 41713 6.36 0 NA NA NA NA Belongs to the GRINL1 family. NA PE5 4 +NX_Q9BZD4 Kinetochore protein Nuf2 464 54304 8.41 0 Nucleoplasm;Nucleus;Kinetochore NA Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:12438418, PubMed:14654001, PubMed:15062103, PubMed:15235793, PubMed:15239953, PubMed:15548592, PubMed:17535814). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:15548592). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020). Can be phosphorylated by AURKA and AURKB. Belongs to the NUF2 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 1 +NX_Q9BZD6 Transmembrane gamma-carboxyglutamic acid protein 4 226 25403 7.08 1 Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment membrane NA May control axon guidance across the CNS (PubMed:28859078). Prevents the delivery of ROBO1 at the cell surface and downregulates its expression (PubMed:28859078). Gla residues are produced after subsequent post-translational modifications of glutamate by a vitamin K-dependent gamma-carboxylase. Belongs to the commissureless family. NA PE1 11 +NX_Q9BZD7 Transmembrane gamma-carboxyglutamic acid protein 3 231 25875 5.75 1 Membrane NA NA Gla residues are produced after subsequent post-translational modifications of glutamate by a vitamin K-dependent gamma-carboxylase. NA NA PE2 X +NX_Q9BZE0 Zinc finger protein GLIS2 524 55689 9.08 0 Cytoplasm;Nucleus speckle;Cell membrane;Nucleoplasm;Cytosol Nephronophthisis 7 Can act either as a transcriptional repressor or as a transcriptional activator, depending on the cell context. Acts as a repressor of the Hedgehog signaling pathway (By similarity). Represses the Hedgehog-dependent expression of Wnt4 (By similarity). Necessary to maintain the differentiated epithelial phenotype in renal cells through the inhibition of SNAI1, which itself induces the epithelial-to-mesenchymal transition (By similarity). Represses transcriptional activation mediated by CTNNB1 in the Wnt signaling pathway. May act by recruiting the corepressors CTBP1 and HDAC3. May be involved in neuron differentiation (By similarity). C-terminus cleavage is induced by interaction with CTNND1 and enhanced by Src tyrosine kinase. Belongs to the GLI C2H2-type zinc-finger protein family. NA PE1 16 +NX_Q9BZE1 39S ribosomal protein L37, mitochondrial 423 48117 8.83 0 Cytoplasm;Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mL37 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 1 +NX_Q9BZE2 tRNA pseudouridine(38/39) synthase 481 55647 7.2 0 Nucleoplasm;Cytosol;Nucleus Mental retardation, autosomal recessive 55 Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs. NA Belongs to the tRNA pseudouridine synthase TruA family. tRNA modification in the nucleus and cytosol PE1 11 +NX_Q9BZE3 BarH-like 1 homeobox protein 327 35074 9.05 0 Nucleus NA NA NA Belongs to the BAR homeobox family. NA PE1 9 +NX_Q9BZE4 Nucleolar GTP-binding protein 1 634 73964 9.52 0 Nucleus membrane;Nucleolus NA Involved in the biogenesis of the 60S ribosomal subunit. NA Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family. NOG subfamily. Ribosome biogenesis in eukaryotes PE1 10 +NX_Q9BZE7 UPF0193 protein EVG1 217 24956 9.83 0 Nucleoplasm NA NA NA Belongs to the UPF0193 (EVG1) family. NA PE1 22 +NX_Q9BZE9 Tether containing UBX domain for GLUT4 553 60183 6.23 0 Endoplasmic reticulum-Golgi intermediate compartment membrane;Cytoplasm;Cell membrane;Endomembrane system;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT. NA NA Translocation of SLC2A4 (GLUT4) to the plasma membrane PE1 17 +NX_Q9BZF1 Oxysterol-binding protein-related protein 8 889 101196 6.52 1 Endoplasmic reticulum membrane;Cell membrane;Nucleus membrane;Cytoplasmic vesicle;Cytosol NA Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner (PubMed:26206935). Binds oxysterol, 25-hydroxycholesterol and cholesterol (PubMed:17428193, PubMed:17991739, PubMed:21698267). NA Belongs to the OSBP family. Acyl chain remodelling of PS PE1 12 +NX_Q9BZF2 Oxysterol-binding protein-related protein 7 842 95432 8.31 0 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Cell membrane NA NA NA Belongs to the OSBP family. Synthesis of bile acids and bile salts PE1 17 +NX_Q9BZF3 Oxysterol-binding protein-related protein 6 934 106306 6.48 0 Endoplasmic reticulum membrane;Cytosol;Nucleus envelope;Cell membrane NA Weakly binds 25-hydroxycholesterol. NA Belongs to the OSBP family. Synthesis of bile acids and bile salts PE1 2 +NX_Q9BZF9 Uveal autoantigen with coiled-coil domains and ankyrin repeats 1416 162505 6.6 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA Modulates isoactin dynamics to regulate the morphological alterations required for cell growth and motility. Interaction with ARF6 may modulate cell shape and motility after injury. May be involved in multiple neurite formation (By similarity).;Regulates APAF1 expression and plays an important role in the regulation of stress-induced apoptosis. Promotes apoptosis by regulating three pathways, apoptosome up-regulation, LGALS3/galectin-3 down-regulation and NF-kappa-B inactivation. Regulates the redistribution of APAF1 into the nucleus after proapoptotic stress. Down-regulates the expression of LGALS3 by inhibiting NFKB1 (By similarity). NA NA Regulation of the apoptosome activity PE1 15 +NX_Q9BZG1 Ras-related protein Rab-34 259 29044 8.07 0 Golgi apparatus;Cytoplasm;Phagosome membrane;Cilium;Phagosome NA Protein transport. Involved in the redistribution of lysosomes to the peri-Golgi region (By similarity). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays a role in the fusion of phagosomes with lysosomes (PubMed:21255211). Acts also as a positive regulator of hedgehog signaling and regulates ciliary function (By similarity). NA Belongs to the small GTPase superfamily. Rab family. RAB geranylgeranylation PE1 17 +NX_Q9BZG2 Testicular acid phosphatase 426 46090 8.45 1 Membrane Amelogenesis imperfecta 1J May dephosphorylate receptor tyrosine-protein kinase ERBB4 and inhibits its ligand-induced proteolytic cleavage (PubMed:15219672). May play a role in odontogenesis (PubMed:27843125). Glycosylated. Belongs to the histidine acid phosphatase family. Riboflavin metabolism PE1 19 +NX_Q9BZG8 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 443 48805 8.47 0 Cytoplasm;Nucleoplasm;Cell junction;Nucleus Developmental delay with short stature, dysmorphic features, and sparse hair Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2). When overexpressed, suppresses colony formation ability and growth rate of ovarian cancer cells. Acts also as a tumor suppressor in lung and breast cancers (By similarity). Plays a role in embryonic growth, organogenesis and postnatal survival (By similarity). NA Belongs to the DPH1/DPH2 family. DPH1 subfamily. Protein modification; peptidyl-diphthamide biosynthesis.;Synthesis of diphthamide-EEF2 PE1 17 +NX_Q9BZH6 WD repeat-containing protein 11 1224 136685 6.48 0 trans-Golgi network;Cytoplasm;Cilium basal body;Cilium axoneme;Cytoplasmic vesicle;Cytosol;Nucleus;Cytoskeleton Hypogonadotropic hypogonadism 14 with or without anosmia Involved in the Hedgehog (Hh) signaling pathway, is essential for normal ciliogenesis (PubMed:29263200). Regulates the proteolytic processing of GLI3 and cooperates with the transcription factor EMX1 in the induction of downstream Hh pathway gene expression and gonadotropin-releasing hormone production (PubMed:29263200). WDR11 complex facilitates the tethering of Adaptor protein-1 complex (AP-1)-derived vesicles. WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865). NA NA NA PE1 10 +NX_Q9BZI1 Iroquois-class homeodomain protein IRX-2 471 49129 5.14 0 Nucleoplasm;Nucleolus;Nucleus NA NA NA Belongs to the TALE/IRO homeobox family. NA PE1 5 +NX_Q9BZI7 Regulator of nonsense transcripts 3B 483 57762 9.48 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus Mental retardation, X-linked, syndromic, 14 Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA upstream of exon-exon junctions. In vitro, stimulates translation; the function is independent of association with UPF2 and components of the EJC core. NA Belongs to the RENT3 family. RNA transport;mRNA surveillance pathway;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Regulation of expression of SLITs and ROBOs;RNA Polymerase II Transcription Termination PE1 X +NX_Q9BZJ0 Crooked neck-like protein 1 848 100452 8.1 0 Nucleus speckle;Nucleus NA Involved in pre-mRNA splicing process. NA Belongs to the crooked-neck family. Spliceosome;mRNA Splicing - Major Pathway PE1 20 +NX_Q9BZJ3 Tryptase delta 242 26584 5.51 0 Nucleus speckle;Secreted NA Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type. NA Belongs to the peptidase S1 family. Tryptase subfamily. NA PE1 16 +NX_Q9BZJ4 Solute carrier family 25 member 39 359 39249 9.68 6 Mitochondrion inner membrane;Mitochondrion NA Required for normal heme biosynthesis. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 17 +NX_Q9BZJ6 Probable G-protein coupled receptor 63 419 47578 9.6 7 Nucleoplasm;Cytosol;Cell membrane NA Orphan receptor. May play a role in brain function. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 6 +NX_Q9BZJ7 G-protein coupled receptor 62 368 37614 10.86 7 Cell membrane;Endosome membrane NA Orphan G-protein coupled receptor. Constitutively activates the G(q/11)/inositol phosphate and the G(s)-alpha/cAMP signaling pathways (PubMed:28827538). Has spontaneous activity for beta-arrestin recruitment (PubMed:28827538). Shows a reciprocal modulation of signaling functions with the melatonin receptor MTNR1B most likely through receptor heteromerization (PubMed:28827538). NA Belongs to the G-protein coupled receptor 1 family. NA PE1 3 +NX_Q9BZJ8 G-protein coupled receptor 61 451 49292 6.19 7 Cell membrane;Endosome membrane NA Orphan G-protein coupled receptor. Constitutively activates the G(s)-alpha/cAMP signaling pathway (PubMed:28827538). Shows a reciprocal regulatory interaction with the melatonin receptor MTNR1B most likely through receptor heteromerization (PubMed:28827538). May be involved in the regulation of food intake and body weight (By similarity). NA Belongs to the G-protein coupled receptor 1 family. NA PE1 1 +NX_Q9BZK3 Putative nascent polypeptide-associated complex subunit alpha-like protein 213 23306 4.53 0 NA NA NA NA Belongs to the NAC-alpha family. NA PE5 8 +NX_Q9BZK7 F-box-like/WD repeat-containing protein TBL1XR1 514 55595 5.28 0 Nucleoplasm;Nucleus Pierpont syndrome;Mental retardation, autosomal dominant 41 F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of the N-Cor corepressor complex that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of N-Cor complex, thereby allowing cofactor exchange, and transcription activation. NA Belongs to the WD repeat EBI family. Wnt signaling pathway;PPARA activates gene expression;HDACs deacetylate histones;Notch-HLH transcription pathway;RORA activates gene expression;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activation of gene expression by SREBF (SREBP);Transcriptional regulation of white adipocyte differentiation;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);Regulation of MECP2 expression and activity;Loss of MECP2 binding ability to the NCoR/SMRT complex PE1 3 +NX_Q9BZK8 Ovarian cancer-related protein 1 76 8369 8.97 0 NA NA NA NA NA NA PE4 1 +NX_Q9BZL1 Ubiquitin-like protein 5 73 8547 8.58 0 Cytoplasm NA NA NA NA NA PE1 19 +NX_Q9BZL3 Small integral membrane protein 3 60 6593 6.69 1 Membrane;Cytoplasmic vesicle NA NA NA NA NA PE1 5 +NX_Q9BZL4 Protein phosphatase 1 regulatory subunit 12C 782 84881 5.44 0 Cytoplasm;Stress fiber NA Regulates myosin phosphatase activity. Phosphorylation at Thr-560 is essential for its interaction with PPP1CB. NA NA PE1 19 +NX_Q9BZL6 Serine/threonine-protein kinase D2 878 96722 6.39 0 trans-Golgi network;Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of cell proliferation via MAPK1/3 (ERK1/2) signaling, oxidative stress-induced NF-kappa-B activation, inhibition of HDAC7 transcriptional repression, signaling downstream of T-cell antigen receptor (TCR) and cytokine production, and plays a role in Golgi membrane trafficking, angiogenesis, secretory granule release and cell adhesion (PubMed:15604256, PubMed:14743217, PubMed:17077180, PubMed:16928771, PubMed:17962809, PubMed:17951978, PubMed:18262756, PubMed:19192391, PubMed:19001381, PubMed:23503467, PubMed:28428613). May potentiate mitogenesis induced by the neuropeptide bombesin by mediating an increase in the duration of MAPK1/3 (ERK1/2) signaling, which leads to accumulation of immediate-early gene products including FOS that stimulate cell cycle progression (By similarity). In response to oxidative stress, is phosphorylated at Tyr-438 and Tyr-717 by ABL1, which leads to the activation of PRKD2 without increasing its catalytic activity, and mediates activation of NF-kappa-B (PubMed:15604256, PubMed:28428613). In response to the activation of the gastrin receptor CCKBR, is phosphorylated at Ser-244 by CSNK1D and CSNK1E, translocates to the nucleus, phosphorylates HDAC7, leading to nuclear export of HDAC7 and inhibition of HDAC7 transcriptional repression of NR4A1/NUR77 (PubMed:17962809). Upon TCR stimulation, is activated independently of ZAP70, translocates from the cytoplasm to the nucleus and is required for interleukin-2 (IL2) promoter up-regulation (PubMed:17077180). During adaptive immune responses, is required in peripheral T-lymphocytes for the production of the effector cytokines IL2 and IFNG after TCR engagement and for optimal induction of antibody responses to antigens (By similarity). In epithelial cells stimulated with lysophosphatidic acid (LPA), is activated through a PKC-dependent pathway and mediates LPA-stimulated interleukin-8 (IL8) secretion via a NF-kappa-B-dependent pathway (PubMed:16928771). During TCR-induced T-cell activation, interacts with and is activated by the tyrosine kinase LCK, which results in the activation of the NFAT transcription factors (PubMed:19192391). In the trans-Golgi network (TGN), regulates the fission of transport vesicles that are on their way to the plasma membrane and in polarized cells is involved in the transport of proteins from the TGN to the basolateral membrane (PubMed:14743217). Plays an important role in endothelial cell proliferation and migration prior to angiogenesis, partly through modulation of the expression of KDR/VEGFR2 and FGFR1, two key growth factor receptors involved in angiogenesis (PubMed:19001381). In secretory pathway, is required for the release of chromogranin-A (CHGA)-containing secretory granules from the TGN (PubMed:18262756). Downstream of PRKCA, plays important roles in angiotensin-2-induced monocyte adhesion to endothelial cells (PubMed:17951978). Plays a regulatory role in angiogenesis and tumor growth by phosphorylating a downstream mediator CIB1 isoform 2, resulting in vascular endothelial growth factor A (VEGFA) secretion (PubMed:23503467). Phosphorylation of Ser-876 correlates with the activation status of the kinase (PubMed:11062248). Ser-706 or/and Ser-710 are probably phosphorylated by PKC (PubMed:12058027, PubMed:28428613). Phosphorylation at Ser-244 by CSNK1D and CSNK1E promotes nuclear localization and substrate targeting (PubMed:17962809). Phosphorylation at Ser-244, Ser-706 and Ser-710 is required for nuclear localization (PubMed:17962809). Phosphorylated at Tyr-438 by ABL1 in response to oxidative stress (PubMed:15604256). Phosphorylated at Tyr-717 by ABL1 specifically in response to oxidative stress; requires prior phosphorylation at Ser-706 or/and Ser-710 (PubMed:28428613).;PRKD2 is phosphorylated by SRC (Phosphotyrosine:PTM-0255);PRKD2 is phosphorylated by LCK (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. PKD subfamily. Sphingolipid de novo biosynthesis PE1 19 +NX_Q9BZM1 Group XIIA secretory phospholipase A2 189 21067 6.95 0 Cytoplasm;Secreted NA PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Does not exhibit detectable activity toward sn-2-arachidonoyl- or linoleoyl-phosphatidylcholine or -phosphatidylethanolamine. NA Belongs to the phospholipase A2 family. Glycerophospholipid metabolism;Ether lipid metabolism;Arachidonic acid metabolism;Linoleic acid metabolism;alpha-Linolenic acid metabolism;Metabolic pathways;MAPK signaling pathway;Vascular smooth muscle contraction;VEGF signaling pathway;Fc epsilon RI signaling pathway;Glutamatergic synapse;Long-term depression;GnRH signaling pathway;Pancreatic secretion;Fat digestion and absorption;Toxoplasmosis;Synthesis of PA;Acyl chain remodelling of PG;Acyl chain remodelling of PC;Acyl chain remodelling of PS;Acyl chain remodelling of PE;Acyl chain remodelling of PI PE1 4 +NX_Q9BZM2 Group IIF secretory phospholipase A2 168 18658 5.09 0 Secreted;Cell membrane NA May play a role in lipid mediator production in inflammatory conditions, by providing arachidonic acid to downstream cyclooxygenases and lipoxygenases (By similarity). Phospholipase A2, which catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides (PubMed:11112443). Hydrolyzes phosphatidylethanolamine more efficiently than phosphatidylcholine, with only a modest preference for arachidonic acid versus linoelic acid at the sn-2 position. Comparable activity toward 1-palmitoyl-2-oleoyl-phosphatidylserine vesicles to that toward 1-palmitoyl-2-oleoyl-phosphatidylglycerol (By similarity). Hydrolyzes phosphatidylglycerol versus phosphatidylcholine with a 15-fold preference (PubMed:11112443). NA Belongs to the phospholipase A2 family. Glycerophospholipid metabolism;Ether lipid metabolism;Arachidonic acid metabolism;Linoleic acid metabolism;alpha-Linolenic acid metabolism;Metabolic pathways;MAPK signaling pathway;Vascular smooth muscle contraction;VEGF signaling pathway;Fc epsilon RI signaling pathway;Glutamatergic synapse;Long-term depression;GnRH signaling pathway;Pancreatic secretion;Fat digestion and absorption;Toxoplasmosis;Synthesis of PA;Acyl chain remodelling of PG;Acyl chain remodelling of PC;Acyl chain remodelling of PS;Acyl chain remodelling of PE;Acyl chain remodelling of PI PE1 1 +NX_Q9BZM3 GS homeobox 2 304 32031 9.22 0 Nucleus NA During telencephalic development, causes ventralization of pallial progenitors and, depending on the developmental stage, specifies different neuronal fates. At early stages, necessary and sufficient to correctly specify the ventral lateral ganglionic eminence (LGE) and its major derivatives, the striatal projection neurons. At later stages, may specify LGE progenitors toward dorsal LGE fates, including olfactory bulb interneurons (By similarity). Transcription factor that binds 5'-CNAATTAG-3' DNA sequence. NA Belongs to the Antp homeobox family. NA PE2 4 +NX_Q9BZM4 UL16-binding protein 3 244 27949 8.2 0 Cytoplasmic vesicle;Centriolar satellite;Cell membrane NA Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity. NA Belongs to the MHC class I family. Natural killer cell mediated cytotoxicity;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 6 +NX_Q9BZM5 UL16-binding protein 2 246 27368 6.93 0 Cytoplasmic vesicle;Endoplasmic reticulum;Secreted;Cell membrane NA Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity. NA Belongs to the MHC class I family. Natural killer cell mediated cytotoxicity;Post-translational modification: synthesis of GPI-anchored proteins PE1 6 +NX_Q9BZM6 UL16-binding protein 1 244 27997 7.07 0 Endoplasmic reticulum;Cytosol;Cell membrane NA Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity. NA Belongs to the MHC class I family. Natural killer cell mediated cytotoxicity;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 6 +NX_Q9BZP3 Putative uncharacterized protein encoded by LINC00470 86 9646 4.99 0 NA NA NA NA NA NA PE5 18 +NX_Q9BZP6 Acidic mammalian chitinase 476 52271 5.54 0 Cytoplasm;Secreted NA Degrades chitin and chitotriose. May participate in the defense against nematodes, fungi and other pathogens. Plays a role in T-helper cell type 2 (Th2) immune response. Contributes to the response to IL-13 and inflammation in response to IL-13. Stimulates chemokine production by pulmonary epithelial cells. Protects lung epithelial cells against apoptosis and promotes phosphorylation of AKT1. Its function in the inflammatory response and in protecting cells against apoptosis is inhibited by allosamidin, suggesting that the function of this protein depends on carbohydrate binding. NA Belongs to the glycosyl hydrolase 18 family. Chitinase class II subfamily. Amino sugar and nucleotide sugar metabolism;Digestion of dietary carbohydrate PE1 1 +NX_Q9BZQ2 Testicular spindle-associated protein SHCBP1L 653 72632 5.2 0 Spindle NA Testis-specific spindle-associated factor that plays a role in spermatogenesis. In association with HSPA2, participates in the maintenance of spindle integrity during meiosis in male germ cells. NA NA NA PE1 1 +NX_Q9BZQ4 Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 307 34439 6.59 0 Cytoplasm;Axon;Cytoplasmic vesicle membrane;Golgi apparatus membrane NA Nicotinamide/nicotinate-nucleotide adenylyltransferase that acts as an axon maintenance factor (By similarity). Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP (PubMed:16118205, PubMed:17402747). Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate but with a lower efficiency (PubMed:16118205, PubMed:17402747). Cannot use triazofurin monophosphate (TrMP) as substrate (PubMed:16118205, PubMed:17402747). Also catalyzes the reverse reaction, i.e. The pyrophosphorolytic cleavage of NAD(+) (PubMed:16118205, PubMed:17402747). For the pyrophosphorolytic activity prefers NAD(+), NADH and NaAD as substrates and degrades nicotinic acid adenine dinucleotide phosphate (NHD) less effectively (PubMed:16118205, PubMed:17402747). Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+) (PubMed:16118205, PubMed:17402747). Axon survival factor required for the maintenance of healthy axons: acts by delaying Wallerian axon degeneration, an evolutionarily conserved process that drives the loss of damaged axons (By similarity). Degraded in response to injured neurite. Degradation is probably caused by ubiquitination by MYCBP2 (By similarity). Ubiquitinated on threonine and/or serine residues by MYCBP2; consequences of threonine and/or serine ubiquitination are however unclear (PubMed:29643511).;Palmitoylated; palmitoylation is required for membrane association. Belongs to the eukaryotic NMN adenylyltransferase family. Cofactor biosynthesis; NAD(+) biosynthesis; deamido-NAD(+) from nicotinate D-ribonucleotide: step 1/1.;Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from nicotinamide D-ribonucleotide: step 1/1.;Nicotinate and nicotinamide metabolism;Metabolic pathways;Nicotinate metabolism PE1 1 +NX_Q9BZQ6 ER degradation-enhancing alpha-mannosidase-like protein 3 932 104664 4.82 0 Endoplasmic reticulum;Endoplasmic reticulum lumen NA Involved in endoplasmic reticulum-associated degradation (ERAD). Accelerates the glycoprotein ERAD by proteasomes, by catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2 in the N-glycans. Seems to have alpha 1,2-mannosidase activity (By similarity). NA Belongs to the glycosyl hydrolase 47 family. Protein modification; protein glycosylation.;Protein processing in endoplasmic reticulum;ER Quality Control Compartment (ERQC) PE1 1 +NX_Q9BZQ8 Protein Niban 1 928 103135 4.74 0 Membrane;Cytoplasm;Cytosol;Cell membrane NA Regulates phosphorylation of a number of proteins involved in translation regulation including EIF2A, EIF4EBP1 and RPS6KB1. May be involved in the endoplasmic reticulum stress response (By similarity). NA Belongs to the Niban family. NA PE1 1 +NX_Q9BZR6 Reticulon-4 receptor 473 50708 9.22 0 Cell membrane;Perikaryon;Focal adhesion;Endoplasmic reticulum;Membrane raft;Axon;Dendrite;Cytoskeleton Schizophrenia Receptor for RTN4, OMG and MAG (PubMed:12037567, PubMed:12068310, PubMed:12426574, PubMed:12089450, PubMed:16712417, PubMed:18411262, PubMed:12839991, PubMed:19052207). Functions as receptor for the sialylated gangliosides GT1b and GM1 (PubMed:18411262). Besides, functions as receptor for chondroitin sulfate proteoglycans (By similarity). Can also bind heparin (By similarity). Intracellular signaling cascades are triggered via the coreceptor NGFR (PubMed:12426574). Signaling mediates activation of Rho and downstream reorganization of the actin cytoskeleton (PubMed:16712417, PubMed:22325200). Mediates axonal growth inhibition (PubMed:12839991, PubMed:19052207, PubMed:28892071). Plays a role in regulating axon regeneration and neuronal plasticity in the adult central nervous system. Plays a role in postnatal brain development. Required for normal axon migration across the brain midline and normal formation of the corpus callosum. Protects motoneurons against apoptosis; protection against apoptosis is probably mediated via interaction with MAG. Acts in conjunction with RTN4 and LINGO1 in regulating neuronal precursor cell motility during cortical development. Like other family members, plays a role in restricting the number dendritic spines and the number of synapses that are formed during brain development (PubMed:22325200). N-glycosylated. O-glycosylated. Contains terminal sialic acid groups on its glycan chains. Belongs to the Nogo receptor family. Axonal growth inhibition (RHOA activation) PE1 22 +NX_Q9BZR8 Apoptosis facilitator Bcl-2-like protein 14 327 36598 6.17 0 Cytoplasm;Endomembrane system;Cytosol NA Plays a role in apoptosis. Phosphorylated by MELK, leading to inhibit its pro-apoptotic function.;BCL2L14 is phosphorylated by MELK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the Bcl-2 family. TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain PE1 12 +NX_Q9BZR9 E3 ubiquitin-protein ligase TRIM8 551 61489 7.26 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA E3 ubiquitin-protein ligase which plays different roles in immune pathways. Participates in the activation of interferon-gamma signaling by promoting proteasomal degradation of the repressor SOCS1 (PubMed:12163497). Plays a positive role in the TNFalpha and IL-1beta signaling pathways. Mechanistically, induces the 'lys-63' polyubiquitination of MAP3K7/TAK1 component leading to the activation of NF-kappa-B (PubMed:22084099, PubMed:23152791). Modulates also STAT3 activity through negative regulation of PIAS3, either by degradation of PIAS3 through the ubiquitin-proteasome pathway or exclusion of PIAS3 from the nucleus (PubMed:20516148). NA Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Interferon gamma signaling PE1 10 +NX_Q9BZS1 Forkhead box protein P3 431 47244 9.52 0 Cytoplasm;Nucleoplasm;Nucleus Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome Transcriptional regulator which is crucial for the development and inhibitory function of regulatory T-cells (Treg). Plays an essential role in maintaining homeostasis of the immune system by allowing the acquisition of full suppressive function and stability of the Treg lineage, and by directly modulating the expansion and function of conventional T-cells. Can act either as a transcriptional repressor or a transcriptional activator depending on its interactions with other transcription factors, histone acetylases and deacetylases. The suppressive activity of Treg involves the coordinate activation of many genes, including CTLA4 and TNFRSF18 by FOXP3 along with repression of genes encoding cytokines such as interleukin-2 (IL2) and interferon-gamma (IFNG). Inhibits cytokine production and T-cell effector function by repressing the activity of two key transcription factors, RELA and NFATC2 (PubMed:15790681). Mediates transcriptional repression of IL2 via its association with histone acetylase KAT5 and histone deacetylase HDAC7 (PubMed:17360565). Can activate the expression of TNFRSF18, IL2RA and CTLA4 and repress the expression of IL2 and IFNG via its association with transcription factor RUNX1 (PubMed:17377532). Inhibits the differentiation of IL17 producing helper T-cells (Th17) by antagonizing RORC function, leading to down-regulation of IL17 expression, favoring Treg development (PubMed:18368049). Inhibits the transcriptional activator activity of RORA (PubMed:18354202). Can repress the expression of IL2 and IFNG via its association with transcription factor IKZF4 (By similarity). Acetylation on lysine residues stabilizes FOXP3 and promotes differentiation of T-cells into induced regulatory T-cells (iTregs) associated with suppressive functions. Deacetylated by SIRT1.;Phosphorylation at Ser-418 regulates its transcriptional repressor activity and consequently, regulatory T-cells (Treg) suppressive function. Dephosphorylated at Ser-418 by protein phosphatase 1 (PP1) in Treg cells derived from patients with rheumatoid arthritis. Phosphorylation by CDK2 negatively regulates its transcriptional activity and protein stability (By similarity).;Undergoes proteolytic cleavage in activated regulatory T-cells (Treg), and can be cleaved at either the N- or C-terminal site, or at both sites.;Polyubiquitinated, leading to its proteasomal degradation in regulatory T-cells (Treg) which is mediated by STUB1 in a HSPA1A/B-dependent manner. Deubiquitinated by USP7 leading to increase in protein stability. NA RUNX1 regulates transcription of genes involved in WNT signaling;RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) PE1 X +NX_Q9BZS9 Putative uncharacterized protein PNAS-138 49 5619 5.91 0 NA NA NA NA NA NA PE5 7 +NX_Q9BZV1 UBX domain-containing protein 6 441 49754 6.46 0 Cytoplasm;Golgi apparatus;Lysosome membrane;Late endosome membrane;Membrane;Centrosome;Early endosome membrane;Cytosol;Nucleus NA May negatively regulate the ATPase activity of VCP, an ATP-driven segregase that associates with different cofactors to control a wide variety of cellular processes (PubMed:26475856). As a cofactor of VCP, it may play a role in the transport of CAV1 to lysosomes for degradation (PubMed:21822278, PubMed:23335559). It may also play a role in endoplasmic reticulum-associated degradation (ERAD) of misfolded proteins (PubMed:19275885). Together with VCP and other cofactors, it may play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes (PubMed:27753622). NA NA Protein processing in endoplasmic reticulum PE1 19 +NX_Q9BZV2 Thiamine transporter 2 496 55665 6.01 12 Membrane;Nucleoplasm;Cytosol;Cell membrane Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism. Has no folate transport activity. NA Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. Vitamin digestion and absorption;Vitamin B1 (thiamin) metabolism PE1 2 +NX_Q9BZV3 Interphotoreceptor matrix proteoglycan 2 1241 138621 4.52 1 Photoreceptor inner segment membrane;Interphotoreceptor matrix;Photoreceptor outer segment membrane Macular dystrophy, vitelliform, 5;Retinitis pigmentosa 56 Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light-sensitive photoreceptor outer segment. Binds heparin. Highly glycosylated (N- and O-linked carbohydrates). NA NA PE1 3 +NX_Q9BZW2 Solute carrier family 13 member 1 595 66134 8.35 13 Membrane NA Sodium/sulfate cotransporter that mediates sulfate reabsorption in the kidney. NA Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily. Sodium-coupled sulphate, di- and tri-carboxylate transporters PE1 7 +NX_Q9BZW4 Transmembrane 6 superfamily member 2 377 42554 7.95 9 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane NA Regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content (PubMed:24531328, PubMed:24927523). May function as sterol isomerase (PubMed:25566323). NA Belongs to the TM6SF family. NA PE1 19 +NX_Q9BZW5 Transmembrane 6 superfamily member 1 370 41636 7.55 9 Lysosome membrane NA May function as sterol isomerase. NA Belongs to the TM6SF family. NA PE1 15 +NX_Q9BZW7 Testis-specific gene 10 protein 698 81421 5.73 0 Cytoplasm;Cytosol;Centriole Spermatogenic failure 26 Plays a role in spermatogenesis (PubMed:28905369). When overexpressed, prevents nuclear localization of HIF1A (By similarity). Processed into N-terminal 27-kDa and C-terminal 55-kDa fragments. Belongs to the CEP135/TSGA10 family. NA PE1 2 +NX_Q9BZW8 Natural killer cell receptor 2B4 370 41616 9.14 1 Membrane;Cell membrane NA Heterophilic receptor of the signaling lymphocytic activation molecule (SLAM) family; its ligand is CD48. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Acts as activating natural killer (NK) cell receptor (PubMed:10359122, PubMed:8376943, PubMed:11714776). Activating function implicates association with SH2D1A and FYN (PubMed:15713798). Downstreaming signaling involves predominantly VAV1, and, to a lesser degree, INPP5D/SHIP1 and CBL. Signal attenuation in the absence of SH2D1A is proposed to be dependent on INPP5D and to a lesser extent PTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:10934222, PubMed:15713798). Stimulates NK cell cytotoxicity, production of IFN-gamma and granule exocytosis (PubMed:8376943, PubMed:11714776). Optimal expansion and activation of NK cells seems to be dependent on the engagement of CD244 with CD48 expressed on neighboring NK cells (By similarity). Acts as costimulator in NK activation by enhancing signals by other NK receptors such as NCR3 and NCR1 (PubMed:10741393). At early stages of NK cell differentiation may function as an inhibitory receptor possibly ensuring the self-tolerance of developing NK cells (PubMed:11917118). Involved in the regulation of CD8(+) T-cell proliferation; expression on activated T-cells and binding to CD488 provides costimulatory-like function for neighboring T-cells (By similarity). Inhibits inflammatory responses in dendritic cells (DCs) (By similarity). Phosphorylated by FYN and CSK on tyrosine residues following activation. Coligation with inhibitory receptors such as KIR2DL1 inhibits phosphorylation upon contact of NK cells with sensitive target cells.;N-linked glycosylation is essential for the binding to its ligand CD48. Also O-glycosylated, in contrast, O-linked sialylation has a negative impact on ligand binding. NA Natural killer cell mediated cytotoxicity;Cell surface interactions at the vascular wall PE1 1 +NX_Q9BZX2 Uridine-cytidine kinase 2 261 29299 6.24 0 Nucleoplasm NA Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4-thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)-benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5-methylcytidine, and N(4)-anisoylcytidine. UCK2 is phosphorylated by PASK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the uridine kinase family. Pyrimidine metabolism; UMP biosynthesis via salvage pathway; UMP from uridine: step 1/1.;Pyrimidine metabolism; CTP biosynthesis via salvage pathway; CTP from cytidine: step 1/3.;Pyrimidine metabolism;Drug metabolism - other enzymes;Metabolic pathways;Pyrimidine salvage PE1 1 +NX_Q9BZX4 Ropporin-1B 212 23964 5.11 0 Flagellum NA Important for male fertility. With ROPN1L, involved in fibrous sheath integrity and sperm motility, plays a role in PKA-dependent signaling processes required for spermatozoa capacitation. Sumoylated, sumoylation decreases upon spermatozoa capacitation conditions. Belongs to the ropporin family. NA PE1 3 +NX_Q9BZY9 E3 ubiquitin-protein ligase TRIM31 425 48244 7.55 0 Cytoplasm;Mitochondrion NA Regulator of Src-induced anchorage independent cell growth (By similarity). May have E3 ubiquitin-protein ligase activity. Auto-ubiquitinated (in vitro). Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Interferon gamma signaling PE1 6 +NX_Q9BZZ2 Sialoadhesin 1709 182624 6.15 1 Secreted;Cell membrane NA Acts as an endocytic receptor mediating clathrin dependent endocytosis. Macrophage-restricted adhesion molecule that mediates sialic-acid dependent binding to lymphocytes, including granulocytes, monocytes, natural killer cells, B-cells and CD8 T-cells. Preferentially binds to alpha-2,3-linked sialic acid (By similarity). Binds to SPN/CD43 on T-cells (By similarity). May play a role in hemopoiesis. NA Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. Cell adhesion molecules (CAMs);Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 20 +NX_Q9BZZ5 Apoptosis inhibitor 5 524 59005 6.99 0 Cytoplasm;Nucleus speckle;Nucleus NA Antiapoptotic factor that may have a role in protein assembly. Negatively regulates ACIN1. By binding to ACIN1, it suppresses ACIN1 cleavage from CASP3 and ACIN1-mediated DNA fragmentation. Also known to efficiently suppress E2F1-induced apoptosis. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Acetylation at Lys-251 impairs antiapoptotic function. Belongs to the API5 family. NA PE1 11 +NX_Q9C000 NACHT, LRR and PYD domains-containing protein 1 1473 165866 6.39 0 Cytoplasm;Inflammasome;Nucleoplasm;Cytosol;Nucleus Palmoplantar carcinoma, multiple self-healing;Vitiligo-associated multiple autoimmune disease 1;Autoinflammation with arthritis and dyskeratosis As the sensor component of the NLRP1 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP1, CASP1, and possibly PYCARD. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu. Activation of NLRP1 inflammasome is also required for HMGB1 secretion. The active cytokines and HMGB1 stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death (PubMed:22665479, PubMed:17418785). May be activated by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, in a NOD2-dependent manner (PubMed:18511561). Contrary to its mouse ortholog, not activated by Bacillus anthracis lethal toxin (PubMed:19651869). It is unclear whether isoform 2 is involved in inflammasome formation. It is not cleaved within the FIIND domain, does not assemble into specks, nor promote IL1B release (PubMed:22665479). However, in an vitro cell-free system, it has been shown to be activated by MDP (PubMed:17349957). Binds ATP (PubMed:11113115, PubMed:15212762). NA Belongs to the NLRP family. NOD-like receptor signaling pathway;The NLRP1 inflammasome PE1 17 +NX_Q9C002 Normal mucosa of esophagus-specific gene 1 protein 83 9617 9.45 0 Nucleus NA NA NA Belongs to the complex I NDUFA4 subunit family. NA PE1 15 +NX_Q9C004 Protein sprouty homolog 4 299 32541 8.25 0 Ruffle membrane;Cytoplasm Hypogonadotropic hypogonadism 17 with or without anosmia Suppresses the insulin receptor and EGFR-transduced MAPK signaling pathway, but does not inhibit MAPK activation by a constitutively active mutant Ras. Probably impairs the formation of GTP-Ras. Inhibits Ras-independent, but not Ras-dependent, activation of RAF1. NA Belongs to the sprouty family. Jak-STAT signaling pathway PE1 5 +NX_Q9C005 Protein dpy-30 homolog 99 11250 4.84 0 trans-Golgi network;Nucleoplasm;Golgi apparatus;Nucleus NA As part of the MLL1/MLL complex, involved in the methylation of histone H3 at 'Lys-4', particularly trimethylation. Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. May play some role in histone H3 acetylation. In a teratocarcinoma cell, plays a crucial role in retinoic acid-induced differentiation along the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci. May also play an indirect or direct role in endosomal transport. NA Belongs to the dpy-30 family. PKMTs methylate histone lysines;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 2 +NX_Q9C009 Forkhead box protein Q1 403 41526 9.52 0 Nucleoplasm;Nucleus NA Plays a role in hair follicle differentiation. NA NA NA PE1 6 +NX_Q9C010 cAMP-dependent protein kinase inhibitor beta 78 8468 4.76 0 NA NA Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains. NA Belongs to the PKI family. NA PE1 6 +NX_Q9C019 Tripartite motif-containing protein 15 465 52113 5.4 0 Cytosol;Centriolar satellite NA NA NA Belongs to the TRIM/RBCC family. NA PE1 6 +NX_Q9C026 E3 ubiquitin-protein ligase TRIM9 710 79177 6.4 0 Cytoplasm;Synapse;Dendrite;Synaptic vesicle;Cytoskeleton NA E3 ubiquitin-protein ligase which ubiquitinates itself in cooperation with an E2 enzyme UBE2D2/UBC4 and serves as a targeting signal for proteasomal degradation. May play a role in regulation of neuronal functions and may also participate in the formation or breakdown of abnormal inclusions in neurodegenerative disorders. May act as a regulator of synaptic vesicle exocytosis by controlling the availability of SNAP25 for the SNARE complex formation. Auto-ubiquitinated. Poly-ubiquitinated in cultured cells, whereas it is monoubiquitinated in vitro. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 14 +NX_Q9C029 E3 ubiquitin-protein ligase TRIM7 511 56631 7.81 0 Cytoplasmic vesicle;Nucleoplasm;Cytosol NA E3 ubiquitin-protein ligase. Mediates 'Lys-63'-linked polyubiquitination and stabilization of the JUN coactivator RNF187 in response to growth factor signaling via the MEK/ERK pathway, thereby regulating JUN transactivation and cellular proliferation. Phosphorylated at Ser-107 by RPS6KA5/MSK1, which stimulates the ubiquitin ligase activity. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination. PE1 5 +NX_Q9C030 Tripartite motif-containing protein 6 488 56400 7.5 0 Cytoplasm NA E3 ubiquitin-protein ligase which ubiquitinates MYC and inhibits its transcription activation activity, maintaining the pluripotency of embryonic stem cells (By similarity). Involved in the synthesis of unanchored K48-linked polyubiquitin chains which interact with and activate the serine/threonine kinase IKBKE, leading to phosphorylation of STAT1 and stimulation of an antiviral response (PubMed:24882218). NA Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Interferon gamma signaling PE1 11 +NX_Q9C035 Tripartite motif-containing protein 5 493 56338 5.73 0 Cytoplasm;Cytosol;Nucleus NA Capsid-specific restriction factor that prevents infection from non-host-adapted retroviruses. Blocks viral replication early in the life cycle, after viral entry but before reverse transcription. In addition to acting as a capsid-specific restriction factor, also acts as a pattern recognition receptor that activates innate immune signaling in response to the retroviral capsid lattice. Binding to the viral capsid triggers its E3 ubiquitin ligase activity, and in concert with the heterodimeric ubiquitin conjugating enzyme complex UBE2V1-UBE2N (also known as UBC13-UEV1A complex) generates 'Lys-63'-linked polyubiquitin chains, which in turn are catalysts in the autophosphorylation of the MAP3K7/TAK1 complex (includes TAK1, TAB2, and TAB3). Activation of the MAP3K7/TAK1 complex by autophosphorylation results in the induction and expression of NF-kappa-B and MAPK-responsive inflammatory genes, thereby leading to an innate immune response in the infected cell. Restricts infection by N-tropic murine leukemia virus (N-MLV), equine infectious anemia virus (EIAV), simian immunodeficiency virus of macaques (SIVmac), feline immunodeficiency virus (FIV), and bovine immunodeficiency virus (BIV) (PubMed:17156811). Plays a role in regulating autophagy through activation of autophagy regulator BECN1 by causing its dissociation from its inhibitors BCL2 and TAB2 (PubMed:25127057). Also plays a role in autophagy by acting as a selective autophagy receptor which recognizes and targets HIV-1 capsid protein p24 for autophagic destruction (PubMed:25127057). Degraded in a proteasome-independent fashion in the absence of viral infection but in a proteasome-dependent fashion following exposure to restriction sensitive virus.;Autoubiquitinated in a RING finger- and UBE2D2-dependent manner. Monoubiquitinated by TRIM21. Deubiquitinated by Yersinia YopJ. Ubiquitination may not lead to proteasomal degradation. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Interferon gamma signaling PE1 11 +NX_Q9C037 E3 ubiquitin-protein ligase TRIM4 500 57461 8.4 0 Cytoplasm;Cytosol;Cell membrane NA E3 ubiquitin-protein ligase. Mediates 'Lys-63'-linked polyubiquitination of the innate immune receptor DDX58, this linkage doesn't lead to proteasomal degradation but seems to enhance IFN induction. NA Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 7 +NX_Q9C040 Tripartite motif-containing protein 2 744 81530 6.51 0 Cytoplasm;Centrosome Charcot-Marie-Tooth disease 2R UBE2D1-dependent E3 ubiquitin-protein ligase that mediates the ubiquitination of NEFL and of phosphorylated BCL2L11. Plays a neuroprotective function. May play a role in neuronal rapid ischemic tolerance. RING-type zinc finger-dependent and UBE2D1-dependent autoubiquitination. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Interferon gamma signaling PE1 4 +NX_Q9C056 Homeobox protein Nkx-6.2 277 29263 9.71 0 Nucleus Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy Transcription factor with repressor activity involved in the regulation of axon-glial interactions at myelin paranodes in oligodendrocytes. Binds to the consensus DNA sequence 5'-(A/T)TTAATGA-3'. In oligodendrocytes, binds to MBP and PLP1 promoter regions. NA NA NA PE1 10 +NX_Q9C073 Protein FAM117A 453 48319 8.67 0 Nucleoplasm NA NA NA Belongs to the FAM117 family. NA PE1 17 +NX_Q9C075 Keratin, type I cytoskeletal 23 422 48131 6.09 0 Cytosol;Cytoskeleton NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 17 +NX_Q9C086 INO80 complex subunit B 356 38637 9.66 0 Nucleoplasm;Nucleus;Nucleolus NA Induces growth and cell cycle arrests at the G1 phase of the cell cycle.;Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. NA NA DNA Damage Recognition in GG-NER;UCH proteinases PE1 2 +NX_Q9C091 GREB1-like protein 1923 214354 6.18 1 Membrane;Cytosol Renal hypodysplasia/aplasia 3 Plays a major role in early metanephros and genital development. NA Belongs to the GREB1 family. NA PE1 18 +NX_Q9C093 Sperm flagellar protein 2 1822 209811 5.4 0 Golgi apparatus;Cytoplasm NA Required for correct axoneme development in spermatozoa. Important for normal development of the manchette and sperm head morphology. Essential for male fertility. Plays a role in localization of the intraflagellar transport protein IFT20 to the manchette, suggesting function as an adapter for dynein-mediated protein transport during spermatogenesis. Also plays a role in bone growth where it seems to be required for normal osteoblast differentiation. NA NA NA PE1 5 +NX_Q9C098 Serine/threonine-protein kinase DCLK3 648 73814 9 0 Cytoplasm;Nucleus NA NA NA Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. NA PE1 3 +NX_Q9C099 Leucine-rich repeat and coiled-coil domain-containing protein 1 1032 119596 5.62 0 Centrosome;Centriole NA Required for the organization of the mitotic spindle. Maintains the structural integrity of centrosomes during mitosis. NA Belongs to the LRRCC1 family. NA PE1 8 +NX_Q9C0A0 Contactin-associated protein-like 4 1308 145274 6.22 1 Presynaptic cell membrane NA Presynaptic protein involved in both dopaminergic synaptic transmission and GABAergic system, thereby participating in the structural maturation of inhibitory interneuron synapses. Involved in the dopaminergic synaptic transmission by attenuating dopamine release through a presynaptic mechanism. Also participates in the GABAergic system (By similarity). NA Belongs to the neurexin family. NA PE1 16 +NX_Q9C0A1 Zinc finger homeobox protein 2 2572 274176 5.59 0 Nucleoplasm;Nucleus;Nucleolus Marsili syndrome Transcriptional regulator that is critical for the regulation of pain perception and processing of noxious stimuli. NA NA NA PE1 14 +NX_Q9C0A6 Histone-lysine N-methyltransferase SETD5 1442 157515 8.74 0 Nucleoplasm;Cytosol;Nucleus Mental retardation, autosomal dominant 23 Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 in vitro. The physiological significance of this activity is unclear. Probable transcriptional regulator that acts via the formation of large multiprotein complexes that modify and/or remodel the chromatin. Acts as a regulator of histone acetylation during gene transcription. NA NA NA PE1 3 +NX_Q9C0B0 RING finger protein unkempt homolog 810 88084 6.4 0 Cytoplasm;Cytosol NA Sequence-specific RNA-binding protein which plays an important role in the establishment and maintenance of the early morphology of cortical neurons during embryonic development. Acts as a translation repressor and controls a translationally regulated cell morphology program to ensure proper structuring of the nervous system. Translational control depends on recognition of its binding element within target mRNAs which consists of a mandatory UAG trimer upstream of a U/A-rich motif. Associated with polysomes (PubMed:25737280). NA Belongs to the unkempt family. NA PE1 17 +NX_Q9C0B1 Alpha-ketoglutarate-dependent dioxygenase FTO 505 58282 5.1 0 Cytoplasm;Nucleus speckle;Cytoplasmic vesicle;Cytosol;Nucleus Growth retardation, developmental delay, and facial dysmorphism;Obesity RNA demethylase that mediates oxidative demethylation of different RNA species, such as mRNAs, tRNAs and snRNAs, and acts as a regulator of fat mass, adipogenesis and energy homeostasis (PubMed:22002720, PubMed:26458103, PubMed:28002401, PubMed:30197295, PubMed:26457839, PubMed:25452335). Specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes (PubMed:22002720, PubMed:26458103, PubMed:30197295, PubMed:26457839, PubMed:25452335). M6A demethylation by FTO affects mRNA expression and stability (PubMed:30197295). Also able to demethylate m6A in U6 small nuclear RNA (snRNA) (PubMed:30197295). Mediates demethylation of N(6),2'-O-dimethyladenosine cap (m6A(m)), by demethylating the N(6)-methyladenosine at the second transcribed position of mRNAs and U6 snRNA (PubMed:28002401, PubMed:30197295). Demethylation of m6A(m) in the 5'-cap by FTO affects mRNA stability by promoting susceptibility to decapping (PubMed:28002401). Also acts as a tRNA demethylase by removing N(1)-methyladenine from various tRNAs (PubMed:30197295). Has no activity towards 1-methylguanine (PubMed:20376003). Has no detectable activity towards double-stranded DNA (PubMed:20376003). Also able to repair alkylated DNA and RNA by oxidative demethylation: demethylates single-stranded RNA containing 3-methyluracil, single-stranded DNA containing 3-methylthymine and has low demethylase activity towards single-stranded DNA containing 1-methyladenine or 3-methylcytosine (PubMed:18775698, PubMed:20376003). Ability to repair alkylated DNA and RNA is however unsure in vivo (PubMed:18775698, PubMed:20376003). Involved in the regulation of fat mass, adipogenesis and body weight, thereby contributing to the regulation of body size and body fat accumulation (PubMed:18775698, PubMed:20376003). Involved in the regulation of thermogenesis and the control of adipocyte differentiation into brown or white fat cells (PubMed:26287746). Regulates activity of the dopaminergic midbrain circuitry via its ability to demethylate m6A in mRNAs (By similarity). Plays an oncogenic role in a number of acute myeloid leukemias by enhancing leukemic oncogene-mediated cell transformation: acts by mediating m6A demethylation of target transcripts such as MYC, CEBPA, ASB2 and RARA, leading to promote their expression (PubMed:28017614, PubMed:29249359). NA Belongs to the fto family. Reversal of alkylation damage by DNA dioxygenases PE1 16 +NX_Q9C0B2 Cilia- and flagella-associated protein 74 1584 178589 6.01 0 Cilium axoneme NA As part of the central apparatus of the cilium axoneme may play a role in cilium movement. NA Belongs to the CFAP74 family. NA PE1 1 +NX_Q9C0B5 Palmitoyltransferase ZDHHC5 715 77545 9.17 4 Nucleoplasm;Cell junction;Cell membrane NA Palmitoyl acyltransferase for the G-protein coupled receptor SSTR5. Also palmitoylates FLOT2 (By similarity). NA Belongs to the DHHC palmitoyltransferase family. ERF2/ZDHHC9 subfamily. NA PE1 11 +NX_Q9C0B6 BMP/retinoic acid-inducible neural-specific protein 2 783 89005 8.18 0 Secreted NA Inhibits neuronal cell proliferation by negative regulation of the cell cycle transition. NA Belongs to the BRINP family. NA PE1 1 +NX_Q9C0B7 Transport and Golgi organization protein 6 homolog 1094 120748 5.75 1 Membrane;Golgi apparatus;Cytosol NA NA NA Belongs to the Tango6 family. NA PE1 16 +NX_Q9C0B9 Zinc finger CCHC domain-containing protein 2 1178 125936 6.55 0 Nucleoplasm;Cytosol;Nucleolus NA NA NA NA NA PE1 18 +NX_Q9C0C2 182 kDa tankyrase-1-binding protein 1729 181796 4.77 0 Chromosome;Nucleus;Cytoskeleton NA NA ADP-ribosylated by TNKS1 (in vitro). NA Deadenylation of mRNA;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 11 +NX_Q9C0C4 Semaphorin-4C 833 92623 6.92 1 Synaptic vesicle membrane;Postsynaptic density membrane NA Cell surface receptor for PLXNB2 that plays an important role in cell-cell signaling. PLXNB2 binding promotes downstream activation of RHOA and phosphorylation of ERBB2 at 'Tyr-1248'. Required for normal brain development, axon guidance and cell migration (By similarity). Probable signaling receptor which may play a role in myogenic differentiation through activation of the stress-activated MAPK cascade. NA Belongs to the semaphorin family. Axon guidance PE1 2 +NX_Q9C0C6 CLOCK-interacting pacemaker 399 42692 9.08 0 Cytosol;Nucleus NA Transcriptional repressor which may act as a negative-feedback regulator of CLOCK-ARNTL/BMAL1 transcriptional activity in the circadian-clock mechanism. May stimulate ARNTL/BMAL1-dependent phosphorylation of CLOCK. However, the physiogical relevance of these observations is unsure, since experiments in an animal model showed that CIPC is not critially required for basic circadian clock. NA NA NA PE1 14 +NX_Q9C0C7 Activating molecule in BECN1-regulated autophagy protein 1 1298 142507 6.73 0 Cytoplasmic vesicle;Autophagosome;Mitochondrion NA Regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation (By similarity). NA NA Macroautophagy PE1 11 +NX_Q9C0C9 (E3-independent) E2 ubiquitin-conjugating enzyme 1292 141293 5.01 0 Nucleoplasm;Cytoplasm;Nucleus NA E2/E3 hybrid ubiquitin-protein ligase that displays both E2 and E3 ligase activities and mediates monoubiquitination of target proteins (PubMed:23455153, PubMed:24703950). Negatively regulates TRAF6-mediated NF-kappa-B activation independently of its E2 activity (PubMed:23381138). Acts as a positive regulator of BMP7 signaling by mediating monoubiquitination of SMAD6, thereby regulating adipogenesis (PubMed:23455153). Mediates monoubiquitination at different sites of the nuclear localization signal (NLS) of BAP1, leading to cytoplasmic retention of BAP1. Also able to monoubiquitinate the NLS of other chromatin-associated proteins, such as INO80 and CXXC1, affecting their subcellular location (PubMed:24703950). Acts as a regulator of retrograde transport by assisting the TRIM27:MAGEL2 E3 ubiquitin ligase complex to mediate 'Lys-63'-linked ubiquitination of WASHC1, leading to promote endosomal F-actin assembly (PubMed:23452853). Ubiquitinated: autoubiquitinates, possibly affecting its subcellular location.;Phosphorylated. Phosphorylation affects subcellular location. Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation PE1 17 +NX_Q9C0D0 Phosphatase and actin regulator 1 580 66308 6.51 0 Cytoplasm;Nucleus;Synapse;Cell membrane Epileptic encephalopathy, early infantile, 70 Binds actin monomers (G actin) and plays a role in multiple processes including the regulation of actin cytoskeleton dynamics, actin stress fibers formation, cell motility and survival, formation of tubules by endothelial cells, and regulation of PPP1CA activity (PubMed:21798305, PubMed:21939755). Involved in the regulation of cortical neuron migration and dendrite arborization (By similarity). NA Belongs to the phosphatase and actin regulator family. NA PE1 6 +NX_Q9C0D2 Centrosomal protein of 295 kDa 2601 295176 5.68 0 Cell membrane;Centriole;Centrosome;Cytosol;Spindle;Cytoskeleton NA Centriole-enriched microtubule-binding protein involved in centriole biogenesis (PubMed:20844083, PubMed:25131205, PubMed:27185865). Essential for the generation of the distal portion of new-born centrioles in a CENPJ- and CEP120-mediated elongation dependent manner during the cell cycle S/G2 phase after formation of the initiating cartwheel structure (PubMed:27185865). Required for the recruitment of centriolar proteins, such as POC1B, POC5 and CEP135, into the distal portion of centrioles (PubMed:27185865). Also required for centriole-to-centrosome conversion during mitotic progression, but is dispensable for cartwheel removal or centriole disengagement (PubMed:25131205). Binds to and stabilizes centriolar microtubule (PubMed:27185865). NA NA NA PE1 11 +NX_Q9C0D3 Protein zyg-11 homolog B 744 83921 6.38 0 Golgi apparatus;Cytoskeleton NA Serves as substrate adapter subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC. Acts redudantly with ZER1 to target substrates bearing N-terminal glycine degrons for proteasomal degradation. Involved in the clearance of proteolytic fragments generated by caspase cleavage during apoptosis since N-terminal glycine degrons are strongly enriched at caspase cleavage sites. Also important in the quality control of protein N-myristoylation in which N-terminal glycine degrons are conditionally exposed after a failure of N-myristoylation (PubMed:31273098). NA Belongs to the zyg-11 family. NA PE1 1 +NX_Q9C0D4 Zinc finger protein 518B 1074 119531 9.52 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 4 +NX_Q9C0D5 Protein TANC1 1861 202219 8.63 0 Postsynaptic density NA May be a scaffold component in the postsynaptic density. Phosphorylated; by MINK1 and TNIK upon stimulation by RAP2A.;TANC1 is phosphorylated by TNIK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);TANC1 is phosphorylated by MINK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the TANC family. NA PE1 2 +NX_Q9C0D6 FH2 domain-containing protein 1 1143 124762 9.17 0 Golgi apparatus;Cilium NA Microtubule-associated formin which regulates both actin and microtubule dynamics. Induces microtubule acetylation and stabilization and actin stress fiber formation (PubMed:18815276). Regulates Golgi ribbon formation (PubMed:26564798). Required for normal cilia assembly. Early in cilia assembly, may assist in the maturation and positioning of the centrosome/basal body, and once cilia assembly has initiated, may also promote cilia elongation by inhibiting disassembly (PubMed:29742020). NA NA NA PE1 4 +NX_Q9C0D7 Probable ribonuclease ZC3H12C 883 99340 6.48 0 Golgi apparatus;Nucleus membrane NA May function as RNase and regulate the levels of target RNA species. NA Belongs to the ZC3H12 family. NA PE1 11 +NX_Q9C0D9 Ethanolaminephosphotransferase 1 397 45229 6.12 10 Membrane NA Catalyzes phosphatidylethanolamine biosynthesis from CDP-ethanolamine. It thereby plays a central role in the formation and maintenance of vesicular membranes. Involved in the formation of phosphatidylethanolamine via 'Kennedy' pathway. NA Belongs to the CDP-alcohol phosphatidyltransferase class-I family. Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 3/3.;Glycerophospholipid metabolism;Ether lipid metabolism;Metabolic pathways;Synthesis of PE PE1 2 +NX_Q9C0E2 Exportin-4 1151 130139 4.95 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO4 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. NA Belongs to the exportin family. NA PE1 13 +NX_Q9C0E4 Glutamate receptor-interacting protein 2 1043 112573 6.02 0 Membrane;Cytoplasm;Cytosol NA May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons. NA Belongs to the GRIP2 family. Trafficking of GluR2-containing AMPA receptors PE1 3 +NX_Q9C0E8 Endoplasmic reticulum junction formation protein lunapark 428 47740 5.07 2 Endoplasmic reticulum;Nucleoplasm;Endoplasmic reticulum membrane Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum Endoplasmic reticulum (ER)-shaping membrane protein that plays a role in determining ER morphology (PubMed:30032983). Involved in the stabilization of nascent three-way ER tubular junctions within the ER network (PubMed:24223779, PubMed:25404289, PubMed:25548161, PubMed:27619977). May also play a role as a curvature-stabilizing protein within the three-way ER tubular junction network (PubMed:25404289). May be involved in limb development (By similarity). Is involved in central nervous system development (PubMed:30032983). Subject to proteasomal degradation following phosphorylation during mitosis (PubMed:27619977).;Phosphorylated. Phosphorylation occurs at Ser-177, Ser-182, Ser-217, Ser-227, Ser-321 and Ser-384 during interphase (PubMed:27619977). Phosphorylation occurs at Ser-114, Ser-153, Ser-194, Thr-211 and Ser-353 during mitosis; these phosphorylations reduce both its homodimerization and the ER three-way tubular junction formation (PubMed:27619977).;Myristoylated; myristoylation is necessary for the endoplasmic reticulum (ER) three-way ER tubular junction formation, but is not required neither for membrane translocation, membrane topology formation, nor for the specific localization to ER membranes (PubMed:24223779). Belongs to the lunapark family. NA PE1 2 +NX_Q9C0F0 Putative Polycomb group protein ASXL3 2248 241919 5.8 0 Nucleus Bainbridge-Ropers syndrome Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). NA Belongs to the Asx family. NA PE1 18 +NX_Q9C0F1 Centrosomal protein of 44 kDa 390 44140 5.13 0 Spindle pole;Centrosome;Midbody NA NA NA NA NA PE1 4 +NX_Q9C0F3 Zinc finger protein 436 470 54277 6.75 0 Nucleoplasm;Cytosol;Nucleus NA May be a transcriptional repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 1 +NX_Q9C0G0 Zinc finger protein 407 2248 247367 6.05 0 Nucleoplasm;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA NA NA PE1 18 +NX_Q9C0G6 Dynein heavy chain 6, axonemal 4158 475983 5.72 0 Cilium axoneme NA Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (By similarity). NA Belongs to the dynein heavy chain family. NA PE1 2 +NX_Q9C0H2 Protein tweety homolog 3 523 57545 5.19 5 Cell membrane NA Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction. N-glycosylated. Belongs to the tweety family. Stimuli-sensing channels PE1 7 +NX_Q9C0H5 Rho GTPase-activating protein 39 1083 121286 7.3 0 Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA NA NA NA Rho GTPase cycle;Inactivation of CDC42 and RAC1 PE1 8 +NX_Q9C0H6 Kelch-like protein 4 718 80245 6.39 0 Centriolar satellite;Cytoskeleton NA NA NA NA NA PE1 X +NX_Q9C0H9 SRC kinase signaling inhibitor 1 1183 127105 9.39 0 Cytoplasm;Cell junction;Postsynapse;Presynapse;Postsynaptic density;Axon;Dendrite;Cytoskeleton NA Acts as a negative regulator of SRC by activating CSK which inhibits SRC activity and downstream signaling, leading to impaired cell spreading and migration. Regulates dendritic spine morphology. Involved in calcium-dependent exocytosis. May play a role in neurotransmitter release or synapse maintenance. Tyrosine-phosphorylated in response to EGF and to cell adhesion to integrin ligands. Belongs to the SRCIN1 family. NA PE1 17 +NX_Q9C0I1 Myotubularin-related protein 12 747 86148 6.17 0 Sarcoplasmic reticulum;Cytoplasm;Sarcomere NA Acts as an adapter for the myotubularin-related phosphatases (PubMed:11504939, PubMed:12847286, PubMed:23818870). Regulates phosphatase MTM1 protein stability and possibly its intracellular location (PubMed:23818870). By stabilizing MTM1 protein levels, required for skeletal muscle maintenance but not for myogenesis (By similarity). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Synthesis of PIPs at the early endosome membrane PE1 5 +NX_Q9C0I3 Serine-rich coiled-coil domain-containing protein 1 900 99510 7.88 0 NA NA NA NA Belongs to the CCSER family. NA PE1 4 +NX_Q9C0I4 Thrombospondin type-1 domain-containing protein 7B 1608 179402 7.93 1 Membrane;Nucleoplasm;Cytosol NA NA NA NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 2 +NX_Q9C0I9 Leucine-rich repeat-containing protein 27 530 60089 9.62 0 Golgi apparatus;Nucleoplasm NA NA NA NA NA PE2 10 +NX_Q9C0J1 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 378 42310 9.44 1 Mitochondrion;Nucleolus;Golgi apparatus membrane NA Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Has activity for type 2 oligosaccharides. NA Belongs to the glycosyltransferase 31 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;O-linked glycosylation of mucins;Keratan sulfate biosynthesis PE1 12 +NX_Q9C0J8 pre-mRNA 3' end processing protein WDR33 1336 145891 9.24 0 Nucleoplasm;Nucleolus;Nucleus NA Essential for both cleavage and polyadenylation of pre-mRNA 3' ends. NA Belongs to the WD repeat WDR33 family. Transport of Mature mRNA Derived from an Intronless Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Processing of Intronless Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 2 +NX_Q9C0J9 Class E basic helix-loop-helix protein 41 482 50498 6.95 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes. Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop). Both these loops are interlocked as it represses the expression of PER1 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1 heterodimer by competing for the binding to E-box elements (5'-CACGTG-3') found within the promoters of its target genes. Negatively regulates its own expression and the expression of DBP and BHLHE41/DEC2. Acts as a corepressor of RXR and the RXR-LXR heterodimers and represses the ligand-induced RXRA/B/G, NR1H3/LXRA, NR1H4 and VDR transactivation activity. Inhibits HNF1A-mediated transactivation of CYP1A2, CYP2E1 AND CYP3A11 (By similarity). NA NA Circadian rhythm - mammal;BMAL1:CLOCK,NPAS2 activates circadian gene expression;Circadian Clock PE1 12 +NX_Q9C0K0 B-cell lymphoma/leukemia 11B 894 95519 6.1 0 Nucleoplasm;Nucleolus;Nucleus Immunodeficiency 49;Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities Key regulator of both differentiation and survival of T-lymphocytes during thymocyte development in mammals. Essential in controlling the responsiveness of hematopoietic stem cells to chemotactic signals by modulating the expression of the receptors CCR7 and CCR9, which direct the movement of progenitor cells from the bone marrow to the thymus (PubMed:27959755). Is a regulator of IL2 promoter and enhances IL2 expression in activated CD4(+) T-lymphocytes (PubMed:16809611). Tumor-suppressor that represses transcription through direct, TFCOUP2-independent binding to a GC-rich response element (By similarity). May also function in the P53-signaling pathway (By similarity). Sumoylated with SUMO1. NA NA PE1 14 +NX_Q9C0K1 Zinc transporter ZIP8 460 49631 5.71 8 Membrane Congenital disorder of glycosylation 2N Acts as a manganese and zinc influx transporter (PubMed:12504855, PubMed:26637978). Plays a role in manganese reabsorption in the proximal tubule of the kidney and in manganese uptake into the brain (PubMed:26637978). NA Belongs to the ZIP transporter (TC 2.A.5) family. Zinc influx into cells by the SLC39 gene family PE1 4 +NX_Q9C0K3 Actin-related protein 3C 210 23712 5.36 0 NA NA May play a role in the suppression of metastatic potential in lung adenoma carcinoma cells. NA Belongs to the actin family. NA PE2 7 +NX_Q9C0K7 STE20-related kinase adapter protein beta 418 47026 6.52 0 Cytoplasm;Cytosol;Nucleus NA Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1. Adopts a closed conformation typical of active protein kinases and binds STK11/LKB1 as a pseudosubstrate, promoting conformational change of STK11/LKB1 in an active conformation (By similarity). NA Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. Energy dependent regulation of mTOR by LKB1-AMPK PE1 2 +NX_Q9GIP4 Putative L-type amino acid transporter 1-like protein IMAA 190 19840 6.72 3 Membrane NA NA NA Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. NA PE5 16 +NX_Q9GIY3 HLA class II histocompatibility antigen, DRB1-14 beta chain 266 30139 8.22 1 Endoplasmic reticulum membrane;Cell membrane;Endosome membrane;Lysosome membrane;trans-Golgi network membrane;Late endosome membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II. Belongs to the MHC class II family. MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_Q9GZK3 Olfactory receptor 2B2 357 40412 8.61 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 6 +NX_Q9GZK4 Olfactory receptor 2H1 316 35339 9.02 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 6 +NX_Q9GZK6 Olfactory receptor 2J1 312 35454 8.31 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 6 +NX_Q9GZK7 Olfactory receptor 11A1 315 35250 8.05 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 6 +NX_Q9GZL7 Ribosome biogenesis protein WDR12 423 47708 5.57 0 Cell membrane;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome. NA Belongs to the WD repeat WDR12/YTM1 family. Major pathway of rRNA processing in the nucleolus and cytosol PE1 2 +NX_Q9GZL8 Putative BPES syndrome breakpoint region protein 116 12676 4.52 0 NA NA NA NA NA NA PE2 3 +NX_Q9GZM3 DNA-directed RNA polymerase II subunit RPB11-b1 115 13088 6.28 0 Nucleus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB11 is part of the core element with the central large cleft (By similarity). NA Belongs to the archaeal RpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Huntington's disease;Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Huntington's disease PE1 7 +NX_Q9GZM5 Protein YIPF3 350 38248 5.47 5 Golgi apparatus;Cytoplasm;Cell membrane;cis-Golgi network membrane;Nucleoplasm;Endoplasmic reticulum NA Involved in the maintenance of the Golgi structure. May play a role in hematopoiesis. N-glycosylated in the ER (40 kDa form I), then O-glycosylated in the Golgi apparatus (46 kDa form II), the C-terminal lumenal region is later removed in the Golgi apparatus to produce a 36 kDa form III. O-glycosylated with core 1-like and core 2-like glycans. O-glycan heterogeneity at Thr-346: HexNAc (minor), HexHexNAc (major), Hex1HexNAc2 (minor), Hex2HexNAc2 (minor) and dHex1Hex2HexNAc2 (minor). Belongs to the YIP1 family. NA PE1 6 +NX_Q9GZM6 Olfactory receptor 8D2 311 34857 8.37 7 Cell membrane NA Odorant receptor (Potential). May be involved in taste perception. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q9GZM7 Tubulointerstitial nephritis antigen-like 467 52387 6.54 0 Secreted NA May be implicated in the adrenocortical zonation and in mechanisms for repressing the CYP11B1 gene expression in adrenocortical cells. This is a non catalytic peptidase C1 family protein (By similarity). Glycosylated. Belongs to the peptidase C1 family. NA PE1 1 +NX_Q9GZM8 Nuclear distribution protein nudE-like 1 345 38375 5.16 0 Spindle;Centrosome;Kinetochore;Cytoskeleton NA Required for organization of the cellular microtubule array and microtubule anchoring at the centrosome. May regulate microtubule organization at least in part by targeting the microtubule severing protein KATNA1 to the centrosome. Also positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus ends. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the centripetal motion of secretory vesicles and the coupling of the nucleus and centrosome. Also required during brain development for the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Plays a role, together with DISC1, in the regulation of neurite outgrowth. Required for mitosis in some cell types but appears to be dispensible for mitosis in cortical neuronal progenitors, which instead requires NDE1. Facilitates the polymerization of neurofilaments from the individual subunits NEFH and NEFL. Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity). Phosphorylated in mitosis. Can be phosphorylated by CDK1, CDK5 and MAPK1. Phosphorylation by CDK5 promotes interaction with KATNA1 and YWHAE.;Palmitoylation at Cys-273 reduces affinity for dynein. Belongs to the nudE family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 17 +NX_Q9GZN0 Probable G-protein coupled receptor 88 384 40246 9.8 7 Cytoplasm;Nucleus;Cell membrane Chorea, childhood-onset, with psychomotor retardation Probable G-protein coupled receptor implicated in a large repertoire of behavioral responses that engage motor activities, spatial learning, and emotional processing. May play a role in the regulation of cognitive and motor function. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 1 +NX_Q9GZN1 Actin-related protein 6 396 45810 4.92 0 Cytosol;Cell membrane;Nucleus;Cytoskeleton NA NA NA Belongs to the actin family. ARP6 subfamily. NA PE1 12 +NX_Q9GZN2 Homeobox protein TGIF2 237 25878 7.77 0 Nucleoplasm;Centrosome;Nucleus NA Transcriptional repressor, which probably repress transcription by binding directly the 5'-CTGTCAA-3' DNA sequence or by interacting with TGF-beta activated SMAD proteins. Probably represses transcription via the recruitment of histone deacetylase proteins. The C-terminal part is phosphorylated in response to EGF signaling by the Ras/MAPK pathway. Belongs to the TALE/TGIF homeobox family. SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Downregulation of SMAD2/3:SMAD4 transcriptional activity PE1 20 +NX_Q9GZN4 Brain-specific serine protease 4 317 33732 7.55 0 Nucleoplasm;Secreted NA Preferentially cleaves the synthetic substrate H-D-Leu-Thr-Arg-pNA compared to tosyl-Gly-Pro-Arg-pNA. NA Belongs to the peptidase S1 family. NA PE1 16 +NX_Q9GZN6 Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 736 82200 8.59 12 Membrane;Golgi apparatus NA NA NA Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A16 subfamily. NA PE1 19 +NX_Q9GZN7 Protein rogdi homolog 287 32254 8.3 0 Cytoplasm;Perikaryon;Presynapse;Nucleus envelope;Axon;Dendrite;Synaptic vesicle;Nucleus Kohlschuetter-Toenz syndrome NA NA Belongs to the rogdi family. NA PE1 16 +NX_Q9GZN8 UPF0687 protein C20orf27 174 19291 6.34 0 Nucleoplasm;Cytosol NA NA NA Belongs to the UPF0687 family. NA PE1 20 +NX_Q9GZP0 Platelet-derived growth factor D 370 42848 8.28 0 Golgi apparatus;Cytoplasmic vesicle;Secreted NA Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Plays an important role in wound healing. Induces macrophage recruitment, increased interstitial pressure, and blood vessel maturation during angiogenesis. Can initiate events that lead to a mesangial proliferative glomerulonephritis, including influx of monocytes and macrophages and production of extracellular matrix (By similarity). Activated by proteolytic cleavage. Proteolytic removal of the N-terminal CUB domain releasing the core domain is necessary for unmasking the receptor-binding epitopes of the core domain. Cleavage after Arg-247 or Arg-249 by urokinase plasminogen activator gives rise to the active form. Belongs to the PDGF/VEGF growth factor family. Focal adhesion;Gap junction;Regulation of actin cytoskeleton;Prostate cancer;Melanoma;Signaling by PDGF PE1 11 +NX_Q9GZP1 Neurensin-2 204 21983 4.69 2 Golgi apparatus;Cell membrane;Membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA May play a role in maintenance and/or transport of vesicles. NA Belongs to the VMP family. NA PE1 20 +NX_Q9GZP4 PITH domain-containing protein 1 211 24178 5.47 0 NA NA NA NA Belongs to the PITHD1 family. NA PE1 1 +NX_Q9GZP7 Vomeronasal type-1 receptor 1 353 40021 9.46 7 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA Putative pheromone receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 19 +NX_Q9GZP8 Immortalization up-regulated protein 106 10897 9.73 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA NA NA NA NA PE1 19 +NX_Q9GZP9 Derlin-2 239 27567 6.73 4 Endoplasmic reticulum;Endoplasmic reticulum membrane NA (Microbial infection) In contrast to DERL1, it is not involved in the degradation of MHC class I heavy chains following infection by cytomegaloviruses.;Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and misfolded glycoproteins (PubMed:16186509, PubMed:16449189). May also be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908). NA Belongs to the derlin family. Protein processing in endoplasmic reticulum;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;ER Quality Control Compartment (ERQC);ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis PE1 17 +NX_Q9GZQ3 COMM domain-containing protein 5 224 24670 6.52 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). Negatively regulates cell proliferation. Negatively regulates cell cycle G2/M phase transition probably by transactivating p21/CDKN1A through the p53/TP53-independent signaling pathway. Involved in kidney proximal tubule morphogenesis (By similarity). Down-regulates activation of NF-kappa-B (PubMed:15799966). NA NA Neddylation PE1 8 +NX_Q9GZQ4 Neuromedin-U receptor 2 415 47696 8.96 7 Cell membrane NA Receptor for the neuromedin-U and neuromedin-S neuropeptides. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 5 +NX_Q9GZQ6 Neuropeptide FF receptor 1 430 47819 9.54 7 Cell membrane NA Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (q) signalling events;Orexin and neuropeptides FF and QRFP bind to their respective receptors PE2 10 +NX_Q9GZQ8 Microtubule-associated proteins 1A/1B light chain 3B 125 14688 8.89 0 Autophagosome membrane;Cytoplasm;Endomembrane system;Autophagosome;Nucleus;Cytoskeleton NA Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes). Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation. Promotes primary ciliogenesis by removing OFD1 from centriolar satellites via the autophagic pathway. Through its interaction with the reticulophagy receptor TEX264, paticipates in the remodeling of subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover (PubMed:31006538, PubMed:31006537). The Legionella effector RavZ is a deconjugating enzyme that produces an ATG8 product that would be resistant to reconjugation by the host machinery due to the cleavage of the reactive C-terminal glycine.;Phosphorylation at Thr-12 by PKA inhibits conjugation to phosphatidylethanolamine (PE) (By similarity). Interaction with MAPK15 reduces the inhibitory phosphorylation and increases autophagy activity.;The precursor molecule is cleaved by ATG4B to form the cytosolic form, LC3-I. This is activated by APG7L/ATG7, transferred to ATG3 and conjugated to phospholipid to form the membrane-bound form, LC3-II (PubMed:15187094). Belongs to the ATG8 family. Macroautophagy;Pink/Parkin Mediated Mitophagy;TBC/RABGAPs;Receptor Mediated Mitophagy PE1 16 +NX_Q9GZR1 Sentrin-specific protease 6 1112 126146 6.3 0 Nucleoplasm;Cytosol;Nucleus NA Protease that deconjugates SUMO1, SUMO2 and SUMO3 from targeted proteins. Processes preferentially poly-SUMO2 and poly-SUMO3 chains, but does not efficiently process SUMO1, SUMO2 and SUMO3 precursors. Deconjugates SUMO1 from RXRA, leading to transcriptional activation. Involved in chromosome alignment and spindle assembly, by regulating the kinetochore CENPH-CENPI-CENPK complex. Desumoylates PML and CENPI, protecting them from degradation by the ubiquitin ligase RNF4, which targets polysumoylated proteins for proteasomal degradation. Desumoylates also RPA1, thus preventing recruitment of RAD51 to the DNA damage foci to initiate DNA repair through homologous recombination. NA Belongs to the peptidase C48 family. Protein modification; protein sumoylation. PE1 6 +NX_Q9GZR2 RNA exonuclease 4 422 46672 9.79 0 Nucleoplasm;Nucleolus;Nucleus NA NA NA Belongs to the REXO4 family. NA PE1 9 +NX_Q9GZR5 Elongation of very long chain fatty acids protein 4 314 36829 9.49 7 Endoplasmic reticulum membrane Spinocerebellar ataxia 34;Ichthyosis, spastic quadriplegia, and mental retardation;Stargardt disease 3 Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that catalyzes the synthesis of very long chain saturated (VLC-SFA) and polyunsaturated (PUFA) fatty acids that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May play a critical role in early brain and skin development. N-glycosylated. Belongs to the ELO family. ELOVL4 subfamily. Lipid metabolism; fatty acid biosynthesis.;Fatty acid elongation;Synthesis of very long-chain fatty acyl-CoAs PE1 6 +NX_Q9GZR7 ATP-dependent RNA helicase DDX24 859 96332 9.14 0 Nucleolus;Nucleus;Cytosol NA ATP-dependent RNA helicase. NA Belongs to the DEAD box helicase family. DDX24/MAK5 subfamily. NA PE1 14 +NX_Q9GZS0 Dynein intermediate chain 2, axonemal 605 68821 4.68 0 Cilium axoneme Ciliary dyskinesia, primary, 9 Part of the dynein complex of respiratory cilia. NA Belongs to the dynein intermediate chain family. Huntington's disease PE1 17 +NX_Q9GZS1 DNA-directed RNA polymerase I subunit RPA49 419 47260 9.1 0 Nucleoplasm;Nucleolus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Appears to be involved in the formation of the initiation complex at the promoter by mediating the interaction between Pol I and UBTF/UBF (By similarity). NA Belongs to the eukaryotic RPA49/POLR1E RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;B-WICH complex positively regulates rRNA expression PE1 9 +NX_Q9GZS3 WD repeat-containing protein 61 305 33581 5.16 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Required for mono- and trimethylation on histone H3 'Lys-4' (H3K4me3), dimethylation on histone H3 'Lys-79' (H3K4me3). Required for Hox gene transcription. Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1C. NA NA RNA degradation;Formation of RNA Pol II elongation complex;RNA Polymerase II Pre-transcription Events;RNA Polymerase II Transcription Elongation;mRNA decay by 3' to 5' exoribonuclease;E3 ubiquitin ligases ubiquitinate target proteins PE1 15 +NX_Q9GZS9 Carbohydrate sulfotransferase 5 411 46161 10.07 1 Golgi apparatus membrane NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues and O-linked sugars of mucin-type acceptors. Acts on the non-reducing terminal GlcNAc of short carbohydrate substrates. However, it does not transfer sulfate to longer carbohydrate substrates that have poly-N-acetyllactosamine structures. Has no activity toward keratan. Not involved in generating HEV-expressed ligands for SELL. Its substrate specificity may be influenced by its subcellular location. NA Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily. Keratan sulfate biosynthesis PE1 16 +NX_Q9GZT3 SRA stem-loop-interacting RNA-binding protein, mitochondrial 109 12349 10.26 0 Mitochondrion;Nucleus NA RNA-binding protein that acts as a nuclear receptor corepressor. Probably acts by binding the SRA RNA, and repressing the SRA-mediated nuclear receptor coactivation. Binds the STR7 loop of SRA RNA. Also able to repress glucocorticoid (GR), androgen (AR), thyroid (TR) and VDR-mediated transactivation. NA NA NA PE1 14 +NX_Q9GZT4 Serine racemase 340 36566 6.11 0 Cytoplasmic vesicle NA Catalyzes the synthesis of D-serine from L-serine. D-serine is a key coagonist with glutamate at NMDA receptors. Has dehydratase activity towards both L-serine and D-serine. S-nitrosylated, leading to decrease the enzyme activity. Belongs to the serine/threonine dehydratase family. Glycine, serine and threonine metabolism;Serine biosynthesis PE1 17 +NX_Q9GZT5 Protein Wnt-10a 417 46444 9.38 0 Extracellular matrix;Secreted Tooth agenesis, selective, 4;Odonto-onycho-dermal dysplasia;Schopf-Schulz-Passarge syndrome Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays a role in normal ectoderm development (PubMed:17847007, PubMed:28589954). Required for normal tooth development (PubMed:17847007, PubMed:29178643, PubMed:28589954). Required for normal postnatal development and maintenance of tongue papillae and sweat ducts (PubMed:28589954). Required for normal proliferation of basal cells in tongue filiform papillae, plantar epithelium and sweat ducts. Required for normal expression of keratins in tongue papillae (By similarity). Required for normal expression of KRT9 in foot plant epithelium (PubMed:28589954). Required for normal hair follicle function (PubMed:28589954). Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Belongs to the Wnt family. WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors) PE1 2 +NX_Q9GZT6 Coiled-coil domain-containing protein 90B, mitochondrial 254 29506 6.99 1 Mitochondrion membrane;Mitochondrion NA NA NA Belongs to the CCDC90 family. NA PE1 11 +NX_Q9GZT8 NIF3-like protein 1 377 41968 6.19 0 Cytoplasm;Nucleus;Cytoplasmic vesicle NA May function as a transcriptional corepressor through its interaction with COPS2, negatively regulating the expression of genes involved in neuronal differentiation. NA Belongs to the GTP cyclohydrolase I type 2/NIF3 family. NA PE1 2 +NX_Q9GZT9 Egl nine homolog 1 426 46021 8.83 0 Cytoplasm;Nucleus Erythrocytosis, familial, 3 Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF1B. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN1 is the most important isozyme under normoxia and, through regulating the stability of HIF1, involved in various hypoxia-influenced processes such as angiogenesis in retinal and cardiac functionality. Target proteins are preferentially recognized via a LXXLAP motif. S-nitrosylation inhibits the enzyme activity up to 60% under aerobic conditions. Chelation of Fe(2+) has no effect on the S-nitrosylation. It is uncertain whether nitrosylation occurs on Cys-323 or Cys-326. NA Pathways in cancer;Renal cell carcinoma;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha PE1 1 +NX_Q9GZU0 Uncharacterized protein C6orf62 229 27083 9.05 0 Cytoplasm;Cytosol;Nucleus NA NA NA NA NA PE1 6 +NX_Q9GZU1 Mucolipin-1 580 65022 6.9 6 Golgi apparatus;Cell membrane;Phagosome membrane;Lysosome membrane;Cytoplasmic vesicle membrane;Nucleoplasm;Phagocytic cup;Cytoplasmic vesicle;Late endosome membrane Mucolipidosis 4 May contribute to cellular lipase activity within the late endosomal pathway or at the cell surface which may be involved in processes of membrane reshaping and vesiculation, especially the growth of tubular structures. However, it is not known, whether it conveys the enzymatic activity directly, or merely facilitates the activity of an associated phospholipase.;Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis. Proposed to play a major role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which is important for many lysosome-dependent cellular events, including the fusion and trafficking of these organelles, exocytosis and autophagy (PubMed:11013137, PubMed:12459486, PubMed:15336987, PubMed:14749347, PubMed:29019983). Required for efficient uptake of large particles in macrophages in which Ca(2+) release from the lysosomes triggers lysosomal exocytosis. May also play a role in phagosome-lysosome fusion (By similarity). Involved in lactosylceramide trafficking indicative for a role in the regulation of late endocytic membrane fusion/fission events (PubMed:16978393). By mediating lysosomal Ca(2+) release is involved in regulation of mTORC1 signaling and in mTOR/TFEB-dependent lysosomal adaptation to environmental cues such as nutrient levels (PubMed:27787197, PubMed:25733853). Seems to act as lysosomal active oxygen species (ROS) sensor involved in ROS-induced TFEB activation and autophagy (PubMed:27357649). Functions as a Fe(2+) permeable channel in late endosomes and lysosomes (PubMed:18794901). Proposed to play a role in zinc homeostasis probably implicating its association with TMEM163 (PubMed:25130899) In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity). Phosphorylation by PKA inhibits channel activity. Dephosphorylation increases activity.;Palmitoylated; involved in association with membranes.;Proteolytically cleaved probably involving multiple lysosomal proteases including cathepsin B; inhibits lysosomal channel activity (PubMed:16257972). Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN1 sub-subfamily. Lysosome;TRP channels;Transferrin endocytosis and recycling PE1 19 +NX_Q9GZU2 Paternally-expressed gene 3 protein 1588 180827 5.31 0 Cytoplasm;Nucleoplasm;Nucleus NA Induces apoptosis in cooperation with SIAH1A. Acts as a mediator between p53/TP53 and BAX in a neuronal death pathway that is activated by DNA damage. Acts synergistically with TRAF2 and inhibits TNF induced apoptosis through activation of NF-kappa-B (By similarity). Possesses a tumor suppressing activity in glioma cells. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q9GZU3 Transmembrane protein 39B 492 56274 9.51 8 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the TMEM39 family. NA PE1 1 +NX_Q9GZU5 Nyctalopin 481 52000 9.1 0 Extracellular matrix Night blindness, congenital stationary, 1A NA NA Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class IV subfamily. NA PE1 X +NX_Q9GZU7 Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 261 29203 5.62 0 Nucleoplasm;Nucleus NA Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation. Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells. NA NA NA PE1 2 +NX_Q9GZU8 PSME3-interacting protein 254 28912 5.38 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Promotes the association of the proteasome activator complex subunit PSME3 with the 20S proteasome and regulates its activity. Inhibits PSME3-mediated degradation of some proteasome substrates, probably by affecting their diffusion rate into the catalytic chamber of the proteasome. Also inhibits the interaction of PSME3 with COIL, inhibits accumulation of PSME3 in Cajal bodies and positively regulates the number of Cajal bodies in the nucleus. Phosphorylation by CK2 stabilizes the interaction with PSME3. NA NA PE1 16 +NX_Q9GZV1 Ankyrin repeat domain-containing protein 2 360 39859 5.72 0 Nucleus;PML body;Cytoplasmic vesicle;Cytosol;I band NA Functions as a negative regulator of myocyte differentiation. May interact with both sarcoplasmic structural proteins and nuclear proteins to regulate gene expression during muscle development and in response to muscle stress. Phosphorylation at Ser-99 by PKB/AKT2 in response to oxidative stress induces translocation to the nucleus and negatively regulates myoblast differentiation. NA NA PE1 10 +NX_Q9GZV3 High affinity choline transporter 1 580 63204 5 13 Cell membrane;Cell junction;Membrane;Synapse;Nucleus;Cytoskeleton Myasthenic syndrome, congenital, 20, presynaptic;Neuronopathy, distal hereditary motor, 7A Transmembrane transporter that imports choline from the extracellular space into the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent. Phosphorylated. Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. Cholinergic synapse;Acetylcholine Neurotransmitter Release Cycle;Transport of bile salts and organic acids, metal ions and amine compounds;Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A);Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A) PE1 2 +NX_Q9GZV4 Eukaryotic translation initiation factor 5A-2 153 16793 5.38 0 Cytoplasm;Endoplasmic reticulum membrane;Nuclear pore complex;Cytoplasmic vesicle;Nucleus NA MRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. Functions as a regulator of apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation (By similarity). EIF-5A seems to be the only eukaryotic protein to have a hypusine residue which is a post-translational modification of a lysine by the addition of a butylamino group (from spermidine). Belongs to the eIF-5A family. Hypusine synthesis from eIF5A-lysine PE1 3 +NX_Q9GZV5 WW domain-containing transcription regulator protein 1 400 44101 5.49 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Transcriptional coactivator which acts as a downstream regulatory target in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. WWTR1 enhances PAX8 and NKX2-1/TTF1-dependent gene activation. Regulates the nuclear accumulation of SMADS and has a key role in coupling them to the transcriptional machinery such as the mediator complex. Regulates embryonic stem-cell self-renewal, promotes cell proliferation and epithelial-mesenchymal transition. Phosphorylated by LATS2 and STK3/MST2. Phosphorylation by LATS2 results in creation of 14-3-3 binding sites, retention in the cytoplasm, and functional inactivation. Phosphorylation results in the inhibition of transcriptional coactivation through YWHAZ-mediated nuclear export. NA Signaling by Hippo;YAP1- and WWTR1 (TAZ)-stimulated gene expression;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Physiological factors;RUNX3 regulates YAP1-mediated transcription;RUNX2 regulates osteoblast differentiation PE1 3 +NX_Q9GZV7 Hyaluronan and proteoglycan link protein 2 340 37775 9.12 0 Extracellular matrix NA Mediates a firm binding of versican V2 to hyaluronic acid. May play a pivotal role in the formation of the hyaluronan-associated matrix in the central nervous system (CNS) which facilitates neuronal conduction and general structural stabilization. Binds to hyaluronic acid (By similarity). NA Belongs to the HAPLN family. NA PE1 1 +NX_Q9GZV8 PR domain zinc finger protein 14 571 64062 6.65 0 Nucleoplasm;Nucleus NA Transcription factor that has both positive and negative roles on transcription. Required for the maintenance of embryonic stem cell identity and the reacquisition of pluripotency in somatic cells. May play an essential role in germ cell development at 2 levels: the reacquisition of potential pluripotency, including SOX2 up-regulation, and successful epigenetic reprogramming, characterized by EHMT1 repression. Its association with CBFA2T2 is required for the functions in pluripotency and germ cell formation (By similarity). Directly up-regulates the expression of pluripotency gene POU5F1 through its proximal enhancer. Binds to the DNA consensus sequence 5'-GGTC[TC]CTAA-3'. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Transcriptional regulation of pluripotent stem cells PE1 8 +NX_Q9GZV9 Fibroblast growth factor 23 251 27954 9.17 0 Secreted Tumoral calcinosis, hyperphosphatemic, familial, 2;Hypophosphatemic rickets, autosomal dominant Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization. O-glycosylated by GALT3. Glycosylation is necessary for secretion; it blocks processing by proprotein convertases when the O-glycan is alpha 2,6-sialylated. Competition between proprotein convertase cleavage and block of cleavage by O-glycosylation determines the level of secreted active FGF23.;Following secretion this protein is inactivated by cleavage into a N-terminal fragment and a C-terminal fragment. The processing is effected by proprotein convertases. Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;Signaling by activated point mutants of FGFR1;Signaling by activated point mutants of FGFR3;FGFR4 ligand binding and activation;FGFR3c ligand binding and activation;FGFR1c ligand binding and activation;FGFR1c and Klotho ligand binding and activation;FGFR2c ligand binding and activation;FGFR3 mutant receptor activation;Activated point mutants of FGFR2;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade: FGFR1;Phospholipase C-mediated cascade, FGFR2;Phospholipase C-mediated cascade, FGFR3;Phospholipase C-mediated cascade, FGFR4;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;SHC-mediated cascade:FGFR3;FRS-mediated FGFR3 signaling;PI-3K cascade:FGFR3;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;PI-3K cascade:FGFR4;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Downstream signaling of activated FGFR1;FGFRL1 modulation of FGFR1 signaling;Signaling by FGFR3 point mutants in cancer;Post-translational protein phosphorylation PE1 12 +NX_Q9GZW5 Putative SCAN domain-containing protein SCAND2P 306 34217 10.67 0 Nucleus NA NA NA NA NA PE5 15 +NX_Q9GZW8 Membrane-spanning 4-domains subfamily A member 7 240 26131 6.17 4 Membrane NA May be involved in signal transduction as a component of a multimeric receptor complex. NA Belongs to the MS4A family. NA PE2 11 +NX_Q9GZX3 Carbohydrate sulfotransferase 6 395 44099 10.03 1 Golgi apparatus membrane Macular dystrophy, corneal Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan. Mediates sulfation of keratan in cornea. Keratan sulfate plays a central role in maintaining corneal transparency. Acts on the non-reducing terminal GlcNAc of short and long carbohydrate substrates that have poly-N-acetyllactosamine structures. NA Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily. Glycosaminoglycan biosynthesis - keratan sulfate;Keratan sulfate biosynthesis;Defective CHST6 causes MCDC1 PE1 16 +NX_Q9GZX5 Zinc finger protein 350 532 60011 8.92 0 Nucleoplasm;Nucleus matrix;Nucleus NA Transcriptional repressor. Binds to a specific sequence, 5'-GGGxxxCAGxxxTTT-3', within GADD45 intron 3. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway;SUMOylation of transcription cofactors PE1 19 +NX_Q9GZX6 Interleukin-22 179 20011 7.65 0 Secreted NA Cytokine that contributes to the inflammatory response in vivo. NA Belongs to the IL-10 family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-20 family signaling PE1 12 +NX_Q9GZX7 Single-stranded DNA cytosine deaminase 198 23954 9.5 0 Cytoplasm;Nucleus Immunodeficiency with hyper-IgM 2 Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation (SHM), gene conversion, and class-switch recombination (CSR) in B-lymphocytes by deaminating C to U during transcription of Ig-variable (V) and Ig-switch (S) region DNA. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses (PubMed:18722174, PubMed:21385873, PubMed:21518874, PubMed:27716525). May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation (PubMed:21496894). Probably monoubiquitinated on several residues by RNF126.;Ser-38 is the major site whereas Thr-27 is the minor site of phosphorylation. Phosphorylation regulates its class-switch recombination activity. Belongs to the cytidine and deoxycytidylate deaminase family. Intestinal immune network for IgA production;Primary immunodeficiency PE1 12 +NX_Q9GZX9 Twisted gastrulation protein homolog 1 223 25017 5.17 0 Cytosol;Centrosome;Secreted NA May be involved in dorsoventral axis formation. Seems to antagonize BMP signaling by forming ternary complexes with CHRD and BMPs, thereby preventing BMPs from binding to their receptors. In addition to the anti-BMP function, also has pro-BMP activity, partly mediated by cleavage and degradation of CHRD, which releases BMPs from ternary complexes. May be an important modulator of BMP-regulated cartilage development and chondrocyte differentiation. May play a role in thymocyte development (By similarity). NA Belongs to the twisted gastrulation protein family. NA PE1 18 +NX_Q9GZY0 Nuclear RNA export factor 2 626 71627 7.74 0 Nucleoplasm;Cytoplasm NA Involved in the export of mRNA from the nucleus to the cytoplasm. NA Belongs to the NXF family. Ribosome biogenesis in eukaryotes;RNA transport;mRNA surveillance pathway;Influenza A;Herpes simplex infection;Ribosome biogenesis in eukaryotes;RNA transport;mRNA surveillance pathway;Influenza A;Herpes simplex infection;Transport of Mature mRNA derived from an Intron-Containing Transcript PE1 X +NX_Q9GZY1 Prostate and breast cancer overexpressed gene 1 protein 135 15722 9.77 0 Cytoplasm;Nucleus NA NA NA NA NA PE2 6 +NX_Q9GZY4 Cytochrome c oxidase assembly factor 1 homolog 146 16694 8.76 1 Mitochondrion inner membrane;Mitochondrion NA Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for assembly of mitochondrial respiratory chain complex I and complex IV. NA Belongs to the COA1 family. NA PE1 7 +NX_Q9GZY6 Linker for activation of T-cells family member 2 243 26550 4.69 1 Cell membrane NA Involved in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. May also be involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and FCGR1 (high affinity immunoglobulin gamma Fc receptor I)-mediated signaling in myeloid cells. Couples activation of these receptors and their associated kinases with distal intracellular events through the recruitment of GRB2. May be polyubiquitinated.;Phosphorylated on tyrosines following cross-linking of BCR in B-cells, FCGR1 in myeloid cells, or FCER1 in mast cells; which induces the recruitment of GRB2. NA Role of LAT2/NTAL/LAB on calcium mobilization PE1 7 +NX_Q9GZY8 Mitochondrial fission factor 342 38465 9.01 1 Mitochondrion outer membrane;Peroxisome;Mitochondrion;Synaptic vesicle Encephalopathy due to defective mitochondrial and peroxisomal fission 2 Plays a role in mitochondrial and peroxisomal fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface. May be involved in regulation of synaptic vesicle membrane dynamics by recruitment of DNM1L to clathrin-containing vesicles. NA Belongs to the Tango11 family. NA PE1 2 +NX_Q9GZZ0 Homeobox protein Hox-D1 328 34093 9.15 0 Nucleoplasm;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. NA Belongs to the Antp homeobox family. Labial subfamily. Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 2 +NX_Q9GZZ1 N-alpha-acetyltransferase 50 169 19398 8.96 0 Cytoplasm;Nucleus NA N-alpha-acetyltransferase that acetylates the N-terminus of proteins that retain their initiating methionine (PubMed:19744929, PubMed:22311970, PubMed:21900231, PubMed:27484799). Has a broad substrate specificity: able to acetylate the initiator methionine of most peptides, except for those with a proline in second position (PubMed:27484799). Also displays N-epsilon-acetyltransferase activity by mediating acetylation of the side chain of specific lysines on proteins (PubMed:19744929). Autoacetylates in vivo (PubMed:19744929). The relevance of N-epsilon-acetyltransferase activity is however unclear: able to acetylate H4 in vitro, but this result has not been confirmed in vivo (PubMed:19744929). Component of a N-alpha-acetyltransferase complex containing NAA10 and NAA15, but NAA50 does not influence the acetyltransferase activity of NAA10: this multiprotein complex probably constitutes the major contributor for N-terminal acetylation at the ribosome exit tunnel, with NAA10 acetylating all amino termini that are devoid of methionine and NAA50 acetylating other peptides (PubMed:16507339, PubMed:27484799). Required for sister chromatid cohesion during mitosis by promoting binding of CDCA5/sororin to cohesin: may act by counteracting the function of NAA10 (PubMed:17502424, PubMed:27422821). NA Belongs to the acetyltransferase family. GNAT subfamily. NA PE1 3 +NX_Q9GZZ6 Neuronal acetylcholine receptor subunit alpha-10 450 49705 8.2 4 Cell membrane;Postsynaptic cell membrane NA Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding may induce an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane. In the ear, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducing the range of dynamic hearing. This may protect against acoustic trauma. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-10/CHRNA10 sub-subfamily. Neuroactive ligand-receptor interaction PE1 11 +NX_Q9GZZ7 GDNF family receptor alpha-4 299 31670 10.47 0 Secreted;Cell membrane NA Receptor for persephin. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor. May be important in C-cell development and, in the postnatal development of the adrenal medulla. NA Belongs to the GDNFR family. RAF/MAP kinase cascade;NCAM1 interactions;RET signaling PE1 20 +NX_Q9GZZ8 Extracellular glycoprotein lacritin 138 14246 5.44 0 Secreted NA Modulates secretion by lacrimal acinar cells. NA NA NA PE1 12 +NX_Q9GZZ9 Ubiquitin-like modifier-activating enzyme 5 404 44863 4.79 0 Golgi apparatus;Cytoplasm;Cytoplasmic vesicle;Cytosol;Nucleus Epileptic encephalopathy, early infantile, 44;Spinocerebellar ataxia, autosomal recessive, 24 E1-like enzyme which activates UFM1 and SUMO2. NA Belongs to the ubiquitin-activating E1 family. UBA5 subfamily. Antigen processing: Ubiquitination & Proteasome degradation PE1 3 +NX_Q9H000 Probable E3 ubiquitin-protein ligase makorin-2 416 46940 7.73 0 Cytoplasm;Nucleoplasm;Cytosol NA E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. NA NA Protein modification; protein ubiquitination. PE1 3 +NX_Q9H008 Phospholysine phosphohistidine inorganic pyrophosphate phosphatase 270 29165 5.8 0 Cytoplasm;Cytosol;Nucleus speckle;Nucleus NA Phosphatase that hydrolyzes imidodiphosphate, 3-phosphohistidine and 6-phospholysine. Has broad substrate specificity and can also hydrolyze inorganic diphosphate, but with lower efficiency (By similarity). NA Belongs to the HAD-like hydrolase superfamily. Oxidative phosphorylation;Purine ribonucleoside monophosphate biosynthesis PE1 10 +NX_Q9H009 Nascent polypeptide-associated complex subunit alpha-2 215 23223 4.68 0 Cytoplasm;Nucleus NA Prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. Also reduces the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites) (By similarity). NA Belongs to the NAC-alpha family. NA PE1 17 +NX_Q9H013 Disintegrin and metalloproteinase domain-containing protein 19 955 104997 8.75 1 Membrane;Cytoplasmic vesicle NA Participates in the proteolytic processing of beta-type neuregulin isoforms which are involved in neurogenesis and synaptogenesis, suggesting a regulatory role in glial cell. Also cleaves alpha-2 macroglobulin. May be involved in osteoblast differentiation and/or osteoblast activity in bone (By similarity). The precursor is cleaved by a furin endopeptidase. NA Invadopodia formation PE1 5 +NX_Q9H015 Solute carrier family 22 member 4 551 62155 6.85 12 Membrane;Mitochondrion Rheumatoid arthritis Sodium-ion dependent, low affinity carnitine transporter. Probably transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 1.78. A key substrate of this transporter seems to be ergothioneine (ET). NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. Organic cation transport PE1 5 +NX_Q9H019 Mitochondrial fission regulator 1-like 292 31957 5.77 0 Cytoplasm;Cell junction;Mitochondrion NA NA NA Belongs to the MTFR1 family. NA PE1 1 +NX_Q9H040 SprT-like domain-containing protein Spartan 489 55134 8.38 0 Nucleoplasm;Nucleus;Chromosome Ruijs-Aalfs syndrome Regulator of UV-induced DNA damage response: acts as a 'reader' of ubiquitinated PCNA that enhances RAD18-mediated PCNA ubiquitination and translesion DNA synthesis (TLS). Recruited to sites of UV damage and interacts with ubiquitinated PCNA and RAD18, the E3 ubiquitin ligase that monoubiquitinates PCNA. Facilitates chromatin association of RAD18 and is required for efficient PCNA monoubiquitination, promoting a feed-forward loop to enhance PCNA ubiquitination and translesion DNA synthesis. Acts as a regulator of TLS by recruiting VCP/p97 to sites of DNA damage, possibly leading to extraction of DNA polymerase eta (POLH) by VCP/p97 to prevent excessive translesion DNA synthesis and limit the incidence of mutations induced by DNA damage. NA Belongs to the Spartan family. Translesion Synthesis by POLH PE1 1 +NX_Q9H061 Transmembrane protein 126A 195 21527 9.36 4 Nucleoplasm;Cytosol;Mitochondrion inner membrane;Mitochondrion Optic atrophy 7 with or without auditory neuropathy NA NA Belongs to the TMEM126 family. NA PE1 11 +NX_Q9H063 Repressor of RNA polymerase III transcription MAF1 homolog 256 28771 4.47 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA Plays a role in the repression of RNA polymerase III-mediated transcription in response to changing nutritional, environmental and cellular stress conditions to balance the production of highly abundant tRNAs, 5S rRNA, and other small non-coding RNAs with cell growth and maintenance (PubMed:18377933, PubMed:20233713, PubMed:20516213, PubMed:20543138). Plays also a key role in cell fate determination by promoting mesorderm induction and adipocyte differentiation (By similarity). Mechanistically, associates with the RNA polymerase III clamp and thereby impairs its recruitment to the complex made of the promoter DNA, TBP and the initiation factor TFIIIB (PubMed:20887893, PubMed:17505538). When nutrients are available and mTOR kinase is active, MAF1 is hyperphosphorylated and RNA polymerase III is engaged in transcription. Stress-induced MAF1 dephosphorylation results in nuclear localization, increased targeting of gene-bound RNA polymerase III and a decrease in the transcriptional readout (PubMed:26941251). Additionally, may also regulate RNA polymerase I and RNA polymerase II-dependent transcription through its ability to regulate expression of the central initiation factor TBP (PubMed:17499043). Sumoylated with SUMO1 and SUMO2, mainly on Lys-35. Desumoylated by SENP1. SUMOylation promotes the ability of MAF1 to repress transcription and suppress colony formation.;Phosphorylated at Ser-60, Ser-68 and Ser-75; the major sites of phosphorylation. Nuclear accumulation correlates with a concomitant dephosphorylation. Phosphorylation may attenuate its RNA polymerase III-repressive function. Belongs to the MAF1 family. Regulation of PTEN gene transcription PE1 8 +NX_Q9H069 Dynein regulatory complex subunit 3 523 61054 4.68 0 Cytoplasm;Cilium axoneme;Cilium;Flagellum axoneme NA Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. NA Belongs to the DRC3 family. NA PE1 17 +NX_Q9H074 Polyadenylate-binding protein-interacting protein 1 479 53525 4.71 0 Cytoplasm;Cytosol;Cell membrane NA Acts as a coactivator in the regulation of translation initiation of poly(A)-containing mRNAs. Its stimulatory activity on translation is mediated via its action on PABPC1. Competes with PAIP2 for binding to PABPC1. Its association with EIF4A and PABPC1 may potentiate contacts between mRNA termini. May also be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. NA NA RNA transport;Deadenylation of mRNA PE1 5 +NX_Q9H078 Caseinolytic peptidase B protein homolog 707 78729 9.13 0 Mitochondrion 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia May function as a regulatory ATPase and be related to secretion/protein trafficking process. NA Belongs to the ClpA/ClpB family. NA PE1 11 +NX_Q9H079 KATNB1-like protein 1 304 34767 9.18 0 Cleavage furrow;Nucleoplasm;Spindle pole;Nucleus;Spindle;Midbody NA Regulates microtubule-severing activity of KATNAL1 in a concentration-dependent manner in vitro. NA NA NA PE1 15 +NX_Q9H081 Protein MIS12 homolog 205 24140 5.5 0 Kinetochore;Nucleus NA Part of the MIS12 complex which is required for normal chromosome alignment and segregation and for kinetochore formation during mitosis (PubMed:12515822, PubMed:15502821, PubMed:16585270). Essential for proper kinetochore microtubule attachments (PubMed:23891108). NA Belongs to the mis12 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 17 +NX_Q9H082 Ras-related protein Rab-33B 229 25718 6.7 0 cis-Golgi network;Golgi apparatus;Golgi apparatus membrane Smith-McCort dysplasia 2 Protein transport. Acts, in coordination with RAB6A, to regulate intra-Golgi retrograde trafficking. It is involved in autophagy, acting as a modulator of autophagosome formation. NA Belongs to the small GTPase superfamily. Rab family. Intra-Golgi traffic;TBC/RABGAPs;RAB geranylgeranylation PE1 4 +NX_Q9H089 Large subunit GTPase 1 homolog 658 75225 5.96 0 Cajal body;Cytoplasm;Endoplasmic reticulum;Nucleoplasm;Cytosol;Nucleus NA GTPase required for the XPO1/CRM1-mediated nuclear export of the 60S ribosomal subunit. Probably acts by mediating the release of NMD3 from the 60S ribosomal subunit after export into the cytoplasm (Probable). NA Belongs to the TRAFAC class YlqF/YawG GTPase family. LSG1 subfamily. Ribosome biogenesis in eukaryotes PE1 3 +NX_Q9H091 Zinc finger MYND domain-containing protein 15 742 81860 6.38 0 Cytoplasm;Cytosol;Nucleus speckle;Nucleus Spermatogenic failure 14 Acts as a transcriptional repressor through interaction with histone deacetylases (HDACs). May be important for spermiogenesis. NA NA NA PE1 17 +NX_Q9H093 NUAK family SNF1-like kinase 2 628 69612 9.01 0 Nucleoplasm;Nucleolus;Nucleus;Cytosol NA Stress-activated kinase involved in tolerance to glucose starvation. Induces cell-cell detachment by increasing F-actin conversion to G-actin. Expression is induced by CD95 or TNF-alpha, via NF-kappa-B. Protects cells from CD95-mediated apoptosis and is required for the increased motility and invasiveness of CD95-activated tumor cells. Able to phosphorylate 'Ser-464' of LATS1. Phosphorylated at Thr-208 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Autophosphorylated in vitro.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily. NA PE1 1 +NX_Q9H094 Neuroblastoma breakpoint family member 3 633 72951 4.4 0 Cytoplasm NA NA NA Belongs to the NBPF family. NA PE2 1 +NX_Q9H095 Dynein regulatory complex protein 9 443 51918 6.18 0 Cytoplasm;Flagellum axoneme;Cilium;Flagellum;Cytosol;Cytoskeleton NA Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Binds calmodulin when cellular Ca(2+) levels are low and thereby contributes to the regulation of calcium and calmodulin-dependent protein kinase IV (CAMK4) activity; contributes to the regulation of CAMK4 signaling cascades. Required for normal axoneme assembly in sperm flagella, normal sperm tail formation and for male fertility. NA Belongs to the DRC9 family. NA PE1 3 +NX_Q9H098 Protein FAM107B 131 15558 7.89 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Nucleus NA NA NA Belongs to the FAM107 family. NA PE1 10 +NX_Q9H0A0 RNA cytidine acetyltransferase 1025 115730 8.5 0 Midbody;Nucleolus NA RNA cytidine acetyltransferase that catalyzes the formation of N(4)-acetylcytidine (ac4C) modification on mRNAs, 18S rRNA and tRNAs (PubMed:25411247, PubMed:25653167, PubMed:30449621). Catalyzes ac4C modification of a broad range of mRNAs, enhancing mRNA stability and translation (PubMed:30449621). MRNA ac4C modification is frequently present within wobble cytidine sites and promotes translation efficiency (PubMed:30449621). Mediates the formation of ac4C at position 1842 in 18S rRNA (PubMed:25411247). May also catalyze the formation of ac4C at position 1337 in 18S rRNA (By similarity). Required for early nucleolar cleavages of precursor rRNA at sites A0, A1 and A2 during 18S rRNA synthesis (PubMed:25411247, PubMed:25653167). Catalyzes the formation of ac4C in serine and leucine tRNAs (By similarity). Requires the tRNA-binding adapter protein THUMPD1 for full tRNA acetyltransferase activity but not for 18S rRNA acetylation (PubMed:25653167). In addition to RNA acetyltransferase activity, also able to acetylate lysine residues of proteins, such as histones, microtubules, p53/TP53 and MDM2, in vitro (PubMed:14592445, PubMed:17631499, PubMed:19303003, PubMed:26882543, PubMed:27993683, PubMed:30165671). The relevance of the protein lysine acetyltransferase activity is however unsure in vivo (PubMed:30449621). Activates telomerase activity by stimulating the transcription of TERT, and may also regulate telomerase function by affecting the balance of telomerase subunit assembly, disassembly, and localization (PubMed:14592445, PubMed:18082603). Acetylation at Lys-426 is required to activation of rRNA transcription (PubMed:27993683). May be autoacetylated; however ability to autoacetylate in vivo requires additional evidences (PubMed:27993683). Belongs to the RNA cytidine acetyltransferase family. NAT10 subfamily. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol PE1 11 +NX_Q9H0A3 Transmembrane protein 191A 160 17963 8.95 1 Membrane NA NA NA Belongs to the TMEM191 family. NA PE2 22 +NX_Q9H0A6 RING finger protein 32 362 41516 9.15 0 Cytoplasm;Cell membrane NA May play a role in sperm formation. NA NA NA PE1 7 +NX_Q9H0A8 COMM domain-containing protein 4 199 21764 6.89 0 Cytoplasm;Nucleoplasm;Nucleus;Cell membrane NA May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). Down-regulates activation of NF-kappa-B. NA NA Neddylation PE1 15 +NX_Q9H0A9 Speriolin-like protein 340 37613 7.05 0 Cytoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol;Nucleus NA NA NA Belongs to the speriolin family. NA PE1 21 +NX_Q9H0B3 IQ domain-containing protein N 1180 127693 10.25 0 Mitochondrion NA NA NA NA NA PE1 19 +NX_Q9H0B6 Kinesin light chain 2 622 68935 6.72 0 Cytoplasm;Mitochondrion;Cell membrane;Nucleoplasm;Cytosol;Cytoskeleton Spastic paraplegia, optic atrophy, and neuropathy Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity). NA Belongs to the kinesin light chain family. Salmonella infection;MHC class II antigen presentation;Kinesins;RHO GTPases activate KTN1;COPI-dependent Golgi-to-ER retrograde traffic PE1 11 +NX_Q9H0B8 Cysteine-rich secretory protein LCCL domain-containing 2 497 55920 8.36 0 Golgi apparatus;Nucleoplasm;Secreted;Nucleolus NA Promotes matrix assembly. NA Belongs to the CRISP family. Neutrophil degranulation PE1 16 +NX_Q9H0C1 Zinc finger MYND domain-containing protein 12 365 41818 5.82 0 Cytoplasm;Nucleus NA NA NA NA NA PE1 1 +NX_Q9H0C2 ADP/ATP translocase 4 315 35022 9.91 6 Mitochondrion inner membrane;Mitochondrion;Flagellum NA Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. May serve to mediate energy generating and energy consuming processes in the distal flagellum, possibly as a nucleotide shuttle between flagellar glycolysis, protein phosphorylation and mechanisms of motility. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Calcium signaling pathway;Parkinson's disease;Huntington's disease;HTLV-I infection PE1 4 +NX_Q9H0C3 Transmembrane protein 117 514 60185 8.67 8 Endoplasmic reticulum;Cell membrane NA Involved in endoplasmic reticulum (ER) stress-induced cell death pathway. NA Belongs to the TMEM117 family. NA PE1 12 +NX_Q9H0C5 BTB/POZ domain-containing protein 1 482 52771 5.79 0 Nucleoplasm;Cytoplasm;Cytosol NA Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312). Seems to regulate expression levels and/or subnuclear distribution of TOP1, via an unknown mechanism (By similarity). May play a role in mesenchymal differentiation where it promotes myogenic differentiation and suppresses adipogenesis (By similarity). NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 15 +NX_Q9H0C8 Integrin-linked kinase-associated serine/threonine phosphatase 2C 392 42907 6.68 0 Cytoplasm;Nucleoplasm NA Protein phosphatase that may play a role in regulation of cell cycle progression via dephosphorylation of its substrates whose appropriate phosphorylation states might be crucial for cell proliferation. Selectively associates with integrin linked kinase (ILK), to modulate cell adhesion and growth factor signaling. Inhibits the ILK-GSK3B signaling axis and may play an important role in inhibiting oncogenic transformation. NA Belongs to the PP2C family. NA PE1 2 +NX_Q9H0D2 Zinc finger protein 541 1346 145587 8.28 0 Nucleoplasm;Cytosol;Nucleus NA Component of some chromatin remodeling multiprotein complex that plays a role during spermatogenesis. NA NA NA PE1 19 +NX_Q9H0D6 5'-3' exoribonuclease 2 950 108582 7.26 0 Nucleoplasm;Nucleolus NA Possesses 5'->3' exoribonuclease activity (By similarity). May promote the termination of transcription by RNA polymerase II. During transcription termination, cleavage at the polyadenylation site liberates a 5' fragment which is subsequently processed to form the mature mRNA and a 3' fragment which remains attached to the elongating polymerase. The processive degradation of this 3' fragment by this protein may promote termination of transcription. Binds to RNA polymerase II (RNAp II) transcription termination R-loops formed by G-rich pause sites (PubMed:21700224). NA Belongs to the 5'-3' exonuclease family. XRN2/RAT1 subfamily. Ribosome biogenesis in eukaryotes;RNA degradation;Association of TriC/CCT with target proteins during biosynthesis;Major pathway of rRNA processing in the nucleolus and cytosol PE1 20 +NX_Q9H0E2 Toll-interacting protein 274 30282 5.68 0 Cytoplasm;Endosome;Cytosol;Cell membrane NA Component of the signaling pathway of IL-1 and Toll-like receptors. Inhibits cell activation by microbial products. Recruits IRAK1 to the IL-1 receptor complex. Inhibits IRAK1 phosphorylation and kinase activity (PubMed:11751856). Connects the ubiquitin pathway to autophagy by functioning as a ubiquitin-ATG8 family adapter and thus mediating autophagic clearance of ubiquitin conjugates. The TOLLIP-dependent selective autophagy pathway plays an important role in clearance of cytotoxic polyQ proteins aggregates (PubMed:25042851). Phosphorylated by IRAK1 upon stimulation by IL-1 or microbial products. Belongs to the tollip family. Toll-like receptor signaling pathway;Neutrophil degranulation;Interleukin-1 signaling PE1 11 +NX_Q9H0E3 Histone deacetylase complex subunit SAP130 1048 110324 9.83 0 Nucleus speckle;Nucleus NA Acts as a transcriptional repressor. May function in the assembly and/or enzymatic activity of the mSin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes. Sumoylated with SUMO1.;Acetylated. Belongs to the SAP130 family. HATs acetylate histones;NoRC negatively regulates rRNA expression PE1 2 +NX_Q9H0E7 Ubiquitin carboxyl-terminal hydrolase 44 712 81185 8.21 0 Nucleolus;Nucleus;Cytoskeleton NA Deubiquitinase that plays a key regulatory role in the spindle assembly checkpoint or mitotic checkpoint by preventing premature anaphase onset. Acts by specifically mediating deubiquitination of CDC20, a negative regulator of the anaphase promoting complex/cyclosome (APC/C). Deubiquitination of CDC20 leads to stabilize the MAD2L1-CDC20-APC/C ternary complex (also named mitotic checkpoint complex), thereby preventing premature activation of the APC/C. Promotes association of MAD2L1 with CDC20 and reinforces the spindle assembly checkpoint. Acts as a negative regulator of histone H2B (H2BK120ub1) ubiquitination. Ubiquitinated; undergoes both 'Lys-48'- and 'Lys-63'-linked polyubiquitination and is degraded by the proteasome.;Dephosphorylated by CTDP1. Belongs to the peptidase C19 family. USP44 subfamily. Ub-specific processing proteases PE1 12 +NX_Q9H0E9 Bromodomain-containing protein 8 1235 135336 4.52 0 Nucleoplasm;Mitochondrion;Nucleus NA May act as a coactivator during transcriptional activation by hormone-activated nuclear receptors (NR).;Stimulates transcriptional activation by AR/DHTR, ESR1/NR3A1, RXRA/NR2B1 and THRB/ERBA2. At least isoform 1 and isoform 2 are components of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome. NA NA HATs acetylate histones PE1 5 +NX_Q9H0F5 E3 ubiquitin-protein ligase RNF38 515 57595 7.68 0 Nucleoplasm;Nucleus NA Acts as an E3 ubiquitin-protein ligase able to ubiquitinate p53/TP53 which promotes its relocalization to discrete foci associated with PML nuclear bodies. Exhibits preference for UBE2D2 as a E2 enzyme. NA NA Protein modification; protein ubiquitination. PE1 9 +NX_Q9H0F6 Sharpin 387 39949 5.53 0 Nucleoplasm;Cytosol;Synapse NA Component of the LUBAC complex which conjugates linear polyubiquitin chains in a head-to-tail manner to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways. Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation. LUBAC is recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex. Together with OTULIN, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis. NA NA Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;Neurexins and neuroligins PE1 8 +NX_Q9H0F7 ADP-ribosylation factor-like protein 6 186 21097 8.72 0 Cilium basal body;Nucleoplasm;Cilium axoneme;Cilium membrane;Cytoplasmic vesicle Retinitis pigmentosa 55;Bardet-Biedl syndrome 3 May be required for proper retinal function and organization (By similarity).;Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia (PubMed:20603001). Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia (By similarity). Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation (PubMed:22072986). May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade (PubMed:20207729). NA Belongs to the small GTPase superfamily. Arf family. BBSome-mediated cargo-targeting to cilium PE1 3 +NX_Q9H0G5 Nuclear speckle splicing regulatory protein 1 558 66390 8.9 0 Nucleoplasm;Nucleus speckle;Nucleus NA RNA-binding protein that mediates pre-mRNA alternative splicing regulation. NA Belongs to the NSRP1 family. NA PE1 17 +NX_Q9H0H0 Integrator complex subunit 2 1204 134323 5.72 1 Cytoplasm;Nucleus membrane;Nucleus NA Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267). NA Belongs to the Integrator subunit 2 family. RNA polymerase II transcribes snRNA genes PE1 17 +NX_Q9H0H3 Kelch-like protein 25 589 65923 6.1 0 Cytoplasm;Nucleoplasm;Cytosol NA Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for translational homeostasis. The BCR(KLHL25) ubiquitin ligase complex acts by mediating ubiquitination of hypophosphorylated EIF4EBP1 (4E-BP1): ubiquitination and subsequent degradation of hypophosphorylated EIF4EBP1 (4E-BP1) probably serves as a homeostatic mechanism to maintain translation and prevent eIF4E inhibition when eIF4E levels are low. The BCR(KLHL25) complex does not target EIF4EBP1 (4E-BP1) when it is hyperphosphorylated or associated with eIF4E. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 15 +NX_Q9H0H5 Rac GTPase-activating protein 1 632 71027 9.08 0 Cytoplasm;Cleavage furrow;Cell membrane;Acrosome;Nucleoplasm;Nucleus envelope;Spindle;Nucleus;Midbody ring NA Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Required for proper attachment of the midbody to the cell membrane during cytokinesis. Plays key roles in controlling cell growth and differentiation of hematopoietic cells through mechanisms other than regulating Rac GTPase activity. Also involved in the regulation of growth-related processes in adipocytes and myoblasts. May be involved in regulating spermatogenesis and in the RACGAP1 pathway in neuronal proliferation. Shows strong GAP (GTPase activation) activity towards CDC42 and RAC1 and less towards RHOA. Essential for the early stages of embryogenesis. May play a role in regulating cortical activity through RHOA during cytokinesis. May participate in the regulation of sulfate transport in male germ cells. Phosphorylated at multiple sites in the midbody during cytokinesis. Phosphorylation by AURKB on Ser-387 at the midbody is, at least in part, responsible for exerting its latent GAP activity towards RhoA. Phosphorylation on multiple serine residues by PLK1 enhances its association with ECT2 and is critical for cleavage furrow formation.;RACGAP1 is phosphorylated by AURKB (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA MHC class II antigen presentation;Rho GTPase cycle;Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 12 +NX_Q9H0H9 Putative cytochrome P450 family member 4F30 118 12413 9.49 0 NA NA NA NA NA NA PE5 2 +NX_Q9H0I2 Enkurin domain-containing protein 1 346 38759 9.84 0 Cytosol;Centrosome;Cell membrane;Cytoskeleton NA NA NA NA NA PE1 16 +NX_Q9H0I3 Coiled-coil domain-containing protein 113 377 44220 8.75 0 Cytoplasm;Centriolar satellite;Nucleus NA Component of centriolar satellites contributing to primary cilium formation. NA NA NA PE1 16 +NX_Q9H0I9 Transketolase-like protein 2 626 67877 5.9 0 Cytoplasm NA Plays an essential role in total transketolase activity and cell proliferation in cancer cells; after transfection with anti-TKTL1 siRNA, total transketolase activity dramatically decreases and proliferation was significantly inhibited in cancer cells. Plays a pivotal role in carcinogenesis. NA Belongs to the transketolase family. Pentose phosphate pathway;Metabolic pathways PE1 4 +NX_Q9H0J4 Glutamine-rich protein 2 1663 180827 6.25 0 Cytoplasm;Nucleus membrane;Nucleoplasm;Flagellum;Cytoplasmic vesicle;Nucleus Spermatogenic failure 35 Has an essential role in the formation of sperm flagella and flagellar structure maintainance. It acts as a suppressor of ubiquitination and degradation of proteins involved in flagellar development and motility. NA NA NA PE1 17 +NX_Q9H0J9 Protein mono-ADP-ribosyltransferase PARP12 701 79064 8.84 0 Nucleoplasm;Nucleus NA Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins. Auto-mono-ADP-ribosylated. NA NA PE1 7 +NX_Q9H0K1 Serine/threonine-protein kinase SIK2 926 103915 5.7 0 Golgi apparatus;Cytoplasm NA Phosphorylates 'Ser-794' of IRS1 in insulin-stimulated adipocytes, potentially modulating the efficiency of insulin signal transduction. Inhibits CREB activity by phosphorylating and repressing TORCs, the CREB-specific coactivators. Phosphorylated at Thr-175 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39.;Acetylation at Lys-53 inhibits kinase activity. Deacetylated by HDAC6. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily. NA PE1 11 +NX_Q9H0K4 Radial spoke head protein 6 homolog A 717 80913 4.36 0 Cytoplasm;Nucleus NA NA NA Belongs to the flagellar radial spoke RSP4/6 family. NA PE1 19 +NX_Q9H0K6 Pseudouridylate synthase 7 homolog-like protein 701 80700 7.31 0 Nucleus speckle;Nucleus NA Pseudouridylate synthase that catalyzes pseudouridylation of RNAs. NA Belongs to the pseudouridine synthase TruD family. NA PE1 12 +NX_Q9H0L4 Cleavage stimulation factor subunit 2 tau variant 616 64437 6.79 0 Cytoplasm;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA May play a significant role in AAUAAA-independent mRNA polyadenylation in germ cells. Directly involved in the binding to pre-mRNAs (By similarity). NA NA mRNA surveillance pathway;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Processing of Intronless Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 10 +NX_Q9H0M0 NEDD4-like E3 ubiquitin-protein ligase WWP1 922 105202 5.64 0 Golgi apparatus;Cytoplasm;Cell membrane;Cytosol;Nucleus NA E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Ubiquitinates ERBB4 isoforms JM-A CYT-1 and JM-B CYT-1, KLF2, KLF5 and TP63 and promotes their proteasomal degradation. Ubiquitinates RNF11 without targeting it for degradation. Ubiquitinates and promotes degradation of TGFBR1; the ubiquitination is enhanced by SMAD7. Ubiquitinates SMAD6 and SMAD7. Ubiquitinates and promotes degradation of SMAD2 in response to TGF-beta signaling, which requires interaction with TGIF. Auto-ubiquitinated and ubiquitinated by RNF11. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Stimuli-sensing channels;Downregulation of ERBB4 signaling;Regulation of RUNX2 expression and activity PE1 8 +NX_Q9H0M4 Zinc finger CW-type PWWP domain protein 1 648 72007 7.47 0 Golgi apparatus NA NA NA NA NA PE1 7 +NX_Q9H0M5 Zinc finger protein 700 742 86232 9.15 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9H0N0 Ras-related protein Rab-6C 254 28355 7.58 0 Golgi apparatus;Cytoplasm;Centrosome;Nucleus NA May be involved in the regulation of centrosome duplication and cell cycle progression. NA Belongs to the small GTPase superfamily. Rab family. NA PE1 2 +NX_Q9H0N5 Pterin-4-alpha-carbinolamine dehydratase 2 130 14365 9.17 0 Cytoplasm;Nucleus;Cell membrane NA Regulates the dimerization of homeodomain protein HNF-1-alpha and enhances its transcriptional activity.;Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2 (By similarity). NA Belongs to the pterin-4-alpha-carbinolamine dehydratase family. NA PE1 5 +NX_Q9H0P0 Cytosolic 5'-nucleotidase 3A 336 37948 6.67 0 Endoplasmic reticulum;Cytoplasm;Mitochondrion;Nucleus P5N deficiency Nucleotidase which shows specific activity towards cytidine monophosphate (CMP) and 7-methylguanosine monophosphate (m(7)GMP) (PubMed:24603684). CMP seems to be the preferred substrate (PubMed:15968458). NA Belongs to the pyrimidine 5'-nucleotidase family. Purine metabolism;Pyrimidine metabolism;Nicotinate and nicotinamide metabolism;Metabolic pathways;Pyrimidine catabolism PE1 7 +NX_Q9H0P7 Putative uncharacterized protein encoded by AGPAT4-IT1 198 20949 6.01 0 Cytoplasm NA NA NA NA NA PE5 6 +NX_Q9H0Q0 Protein FAM49A 323 37313 5.71 0 Cytoplasm;Nucleoplasm;Nucleus NA NA NA Belongs to the FAM49 family. NA PE1 2 +NX_Q9H0Q3 FXYD domain-containing ion transport regulator 6 95 10542 5.05 1 Golgi apparatus;Cell membrane;Nucleus membrane;Membrane;Cytoplasmic vesicle NA NA NA Belongs to the FXYD family. Ion transport by P-type ATPases;Ion homeostasis PE1 11 +NX_Q9H0R1 AP-5 complex subunit mu-1 490 54767 6.17 0 Cytosol;Lysosome membrane;Late endosome membrane NA As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:18395520, it may play a role in cell death. NA Belongs to the adaptor complexes medium subunit family. NA PE1 14 +NX_Q9H0R3 Transmembrane protein 222 208 23230 6.04 3 Membrane;Cytosol;Cell membrane NA NA NA NA NA PE1 1 +NX_Q9H0R4 Haloacid dehalogenase-like hydrolase domain-containing protein 2 259 28536 5.84 0 Cytoplasm;Nucleus;Cytoplasmic vesicle NA NA NA Belongs to the HAD-like hydrolase superfamily. NA PE1 18 +NX_Q9H0R5 Guanylate-binding protein 3 595 68114 6.11 0 Cytoplasm;Perinuclear region;Golgi apparatus membrane NA Exhibits antiviral activity against influenza virus. NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily. Interferon gamma signaling PE1 1 +NX_Q9H0R6 Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial 528 57460 5.47 0 Cytoplasmic vesicle;Mitochondrion;Centrosome NA Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln). NA Belongs to the amidase family. GatA subfamily. NA PE1 6 +NX_Q9H0R8 Gamma-aminobutyric acid receptor-associated protein-like 1 117 14044 8.67 0 Cytoplasm;Golgi apparatus;Cytoplasmic vesicle membrane;Endoplasmic reticulum;Autophagosome;Nucleus;Cytoskeleton NA Ubiquitin-like modifier that increases cell-surface expression of kappa-type opioid receptor through facilitating anterograde intracellular trafficking of the receptor. Involved in formation of autophagosomal vacuoles. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (PubMed:16431922, PubMed:20404487). Through its interaction with the reticulophagy receptor TEX264, paticipates in the remodeling of subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover (PubMed:31006538, PubMed:31006537). The precursor molecule is cleaved by ATG4B to form the cytosolic form, GABARAPL1-I. This is activated by APG7L/ATG7, transferred to ATG3 and conjugated to phospholipid to form the membrane-bound form, GABARAPL1-II (By similarity). ATG4B also mediates the delipidation required for GABARAPL1 recycling when autophagosomes fuse with lysosomes (PubMed:20404487).;The Legionella effector RavZ is a deconjugating enzyme that produces an ATG8 product that would be resistant to reconjugation by the host machinery due to the cleavage of the reactive C-terminal glycine. Belongs to the ATG8 family. Regulation of autophagy;GABAergic synapse;Macroautophagy PE1 12 +NX_Q9H0S4 Probable ATP-dependent RNA helicase DDX47 455 50647 9.18 0 Nucleolus;Nucleus NA Involved in apoptosis. May have a role in rRNA processing and mRNA splicing. Associates with pre-rRNA precursors. NA Belongs to the DEAD box helicase family. DDX47/RRP3 subfamily. rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 12 +NX_Q9H0T7 Ras-related protein Rab-17 212 23491 7.7 0 Cytoplasm;Melanosome;Recycling endosome membrane;Dendrite;Nucleus NA The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in transcytosis, the directed movement of endocytosed material through the cell and its exocytosis from the plasma membrane at the opposite side. Mainly observed in epithelial cells, transcytosis mediates for instance, the transcellular transport of immunoglobulins from the basolateral surface to the apical surface. Most probably controls membrane trafficking through apical recycling endosomes in a post-endocytic step of transcytosis. Required for melanosome transport and release from melanocytes, it also regulates dendrite and dendritic spine development (By similarity). May also play a role in cell migration. NA Belongs to the small GTPase superfamily. Rab family. RAB geranylgeranylation PE1 2 +NX_Q9H0U3 Magnesium transporter protein 1 335 38037 9.68 4 Endoplasmic reticulum;Endoplasmic reticulum membrane;Cell membrane Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia May be involved in Mg(2+) transport in epithelial cells.;Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with TUSC3. In its oxidized form proposed to form transient mixed disulfides with a glycoprotein substrate to facilitate access of STT3B to the unmodified acceptor site. Has also oxidoreductase-independent functions in the STT3B-containing OST complex possibly involving substrate recognition. NA Belongs to the OST3/OST6 family. Protein modification; protein glycosylation.;Miscellaneous transport and binding events;Asparagine N-linked glycosylation;Neutrophil degranulation PE1 X +NX_Q9H0U4 Ras-related protein Rab-1B 201 22171 5.55 0 Golgi apparatus;Cytoplasm;Preautophagosomal structure membrane;Membrane;Endoplasmic reticulum;Perinuclear region NA The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:9437002). Plays a role in the initial events of the autophagic vacuole development which take place at specialized regions of the endoplasmic reticulum (PubMed:20545908). Regulates vesicular transport between the endoplasmic reticulum and successive Golgi compartments (By similarity). Promotes the recruitment of lipid phosphatase MTMR6 to the endoplasmic reticulum-Golgi intermediate compartment (By similarity). Phosphocholinated at Ser-76 by L.pneumophila AnkX, leading to displace GDP dissociation inhibitors (GDI). Both GDP-bound and GTP-bound forms can be phosphocholinated. Dephosphocholinated by L.pneumophila Lem3, restoring accessibility to L.pneumophila GTPase effector LepB.;Prenylated; by GGTase II, only after interaction of the substrate with Rab escort protein 1 (REP1).;AMPylation at Tyr-77 by L.pneumophila DrrA occurs in the switch 2 region and leads to moderate inactivation of the GTPase activity. It appears to prolong the lifetime of the GTP state of RAB1B by restricting access of GTPase effectors to switch 2 and blocking effector-stimulated GTP hydrolysis, thereby rendering RAB1B constitutively active. It is later de-AMPylated by L.pneumophila SidD, releasing RAB1B from bacterial phagosomes. Belongs to the small GTPase superfamily. Rab family. Legionellosis;Golgi Cisternae Pericentriolar Stack Reorganization;COPII-mediated vesicle transport;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 11 +NX_Q9H0U6 39S ribosomal protein L18, mitochondrial 180 20577 9.63 0 Mitochondrion NA Together with thiosulfate sulfurtransferase (TST), acts as a mitochondrial import factor for the cytosolic 5S rRNA. The precursor form shows RNA chaperone activity; is able to fold the 5S rRNA into an import-competent conformation that is recognized by rhodanese (TST). Both the cytoplasmic and mitochondrial forms are able to bind to the helix IV-loop D in the gamma domain of the 5S rRNA. NA Belongs to the universal ribosomal protein uL18 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 6 +NX_Q9H0U9 Testis-specific Y-encoded-like protein 1 437 49192 5.36 0 Nucleoplasm;Nucleolus;Nucleus Sudden infant death with dysgenesis of the testes syndrome NA NA Belongs to the nucleosome assembly protein (NAP) family. NA PE1 6 +NX_Q9H0V1 Transmembrane protein 168 697 79755 8.34 11 Membrane;Golgi apparatus;Cytosol NA NA NA Belongs to the TMEM168 family. NA PE1 7 +NX_Q9H0V9 VIP36-like protein 348 39711 8.55 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Golgi apparatus membrane Mental retardation, autosomal recessive 52 May be involved in the regulation of export from the endoplasmic reticulum of a subset of glycoproteins. May function as a regulator of ERGIC-53. NA NA COPII-mediated vesicle transport;Cargo concentration in the ER PE1 2 +NX_Q9H0W5 Coiled-coil domain-containing protein 8 538 59374 8.72 0 Cytoplasm;Cell membrane;Nucleoplasm;Centrosome;Cytosol 3M syndrome 3 Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Required for localization of CUL7 to the centrosome (PubMed:24793695). NA NA Neddylation PE1 19 +NX_Q9H0W7 THAP domain-containing protein 2 228 26260 10.17 0 Golgi apparatus;Nucleoplasm;Cell membrane NA NA NA NA NA PE1 12 +NX_Q9H0W8 Protein SMG9 520 57651 6.52 0 Cytoplasm;Cytosol;Mitochondrion;Nucleus Heart and brain malformation syndrome Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons (PubMed:19417104). Is recruited by release factors to stalled ribosomes together with SMG1 and SMG8 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required for the efficient association between SMG1 and SMG8 (PubMed:19417104). Plays a role in brain, heart, and eye development (By similarity). Phosphorylated by SMG1. Belongs to the SMG9 family. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) PE1 19 +NX_Q9H0W9 Ester hydrolase C11orf54 315 35117 6.23 0 Nucleoplasm;Nucleus NA Exhibits ester hydrolase activity on the substrate p-nitrophenyl acetate. NA NA NA PE1 11 +NX_Q9H0X4 Protein FAM234A 552 59660 5.84 1 Membrane;Nucleoplasm;Mitochondrion;Cell membrane NA NA NA Belongs to the FAM234 family. NA PE1 16 +NX_Q9H0X6 RING finger protein 208 261 27964 7.45 0 Cytoplasm;Nucleoplasm;Nucleus NA NA NA NA NA PE1 9 +NX_Q9H0X9 Oxysterol-binding protein-related protein 5 879 98616 7.29 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Cytoplasmic vesicle NA Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner (PubMed:23934110, PubMed:26206935). May cooperate with NPC1 to mediate the exit of cholesterol from endosomes/lysosomes (PubMed:21220512). Binds 25-hydroxycholesterol and cholesterol (PubMed:17428193). NA Belongs to the OSBP family. Acyl chain remodelling of PS PE1 11 +NX_Q9H0Y0 Ubiquitin-like-conjugating enzyme ATG10 220 25279 5.35 0 Nucleolus;Cytoplasm;Nucleoplasm;Nucleus NA E2-like enzyme involved in autophagy. Acts as an E2-like enzyme that catalyzes the conjugation of ATG12 to ATG5. ATG12 conjugation to ATG5 is required for autophagy. Likely serves as an ATG5-recognition molecule. Not involved in ATG12 conjugation to ATG3 (By similarity). Plays a role in adenovirus-mediated cell lysis. NA Belongs to the ATG10 family. Macroautophagy PE1 5 +NX_Q9H0Z9 RNA-binding protein 38 239 25498 8.76 0 Nucleoplasm;Cytosol;Nucleus NA But not isoform 2, has the ability to induce cell cycle arrest in G1 and maintain the stability of CDKN1A transcripts induced by p53/TP53. Also acts as a mRNA splicing factor. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Plays a role in myogenic differentiation.;RNA-binding protein that specifically bind the 3'-UTR of CDKN1A transcripts, leading to maintain the stability of CDKN1A transcripts, thereby acting as a mediator of the p53/TP53 family to regulate CDKN1A. CDKN1A is a cyclin-dependent kinase inhibitor transcriptionally regulated by the p53/TP53 family to induce cell cycle arrest.;(Microbial infection) Essential factor for the splicing of the pre-mRNAs of human parvovirus B19 (B19V) and for the expression of B19V 11-kDa protein, which enhances viral replication. NA Belongs to the RBM38 family. NA PE1 20 +NX_Q9H106 Signal-regulatory protein delta 197 21687 9.56 0 Secreted NA NA NA NA NA PE1 20 +NX_Q9H112 Cystatin-11 138 16506 6.51 0 Secreted NA Has antibacterial activity against the Gram-negative bacteria E.coli. May play a role in sperm maturation and fertilization. NA Belongs to the cystatin family. NA PE1 20 +NX_Q9H114 Cystatin-like 1 145 16989 9.84 0 Secreted NA NA NA Belongs to the cystatin family. NA PE2 20 +NX_Q9H115 Beta-soluble NSF attachment protein 298 33557 5.32 0 Membrane NA Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus. NA Belongs to the SNAP family. COPII-mediated vesicle transport;Intra-Golgi traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;Retrograde transport at the Trans-Golgi-Network PE1 20 +NX_Q9H116 GDNF-inducible zinc finger protein 1 711 80492 8.11 0 Nucleoplasm;Cytoplasm;Nucleolus Joint laxity, short stature, and myopia Transcriptional repressor that binds the GZF1 responsive element (GRE) (consensus: 5'-TGCGCN[TG][CA]TATA-3'). May be regulating VSX2/HOX10 expression. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 20 +NX_Q9H147 Deoxynucleotidyltransferase terminal-interacting protein 1 329 37013 9.11 0 Nucleoplasm;Nucleus;Nucleolus NA Increases DNTT terminal deoxynucleotidyltransferase activity (in vitro) (PubMed:11473582). Also acts as a transcriptional regulator, binding to the consensus sequence 5'-GNTGCATG-3' following an AT-tract. Associates with RAB20 promoter and positively regulates its transcription. Binds DNA and nucleosomes; may recruit HDAC1 complexes to nucleosomes or naked DNA. NA NA NA PE1 20 +NX_Q9H156 SLIT and NTRK-like protein 2 845 95404 7.95 1 Membrane;Cell membrane NA It is involved in synaptogenesis and promotes excitatory synapse differentiation (PubMed:27273464, PubMed:27812321). Suppresses neurite outgrowth (By similarity). NA Belongs to the SLITRK family. Receptor-type tyrosine-protein phosphatases PE1 X +NX_Q9H158 Protocadherin alpha-C1 963 103942 5.05 1 Nucleoplasm;Cell membrane;Nucleolus;Cytoplasmic vesicle NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE2 5 +NX_Q9H159 Cadherin-19 772 87002 4.62 1 Cell membrane NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. NA NA NA PE1 18 +NX_Q9H160 Inhibitor of growth protein 2 280 32808 8.17 0 Golgi apparatus;Nucleoplasm;Cytosol;Nucleus NA Seems to be involved in p53/TP53 activation and p53/TP53-dependent apoptotic pathways, probably by enhancing acetylation of p53/TP53. Component of a mSin3A-like corepressor complex, which is probably involved in deacetylation of nucleosomal histones. ING2 activity seems to be modulated by binding to phosphoinositides (PtdInsPs). Sumoylation enhances its association with SIN3A and is required for binding to some target gene promoters, this is the case for TMEM71. Belongs to the ING family. PI5P Regulates TP53 Acetylation;SUMOylation of transcription cofactors PE1 4 +NX_Q9H161 Homeobox protein aristaless-like 4 411 44241 8.56 0 Nucleoplasm;Nucleus Potocki-Shaffer syndrome;Frontonasal dysplasia 2;Parietal foramina 2;Craniosynostosis 5 Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development. NA Belongs to the paired homeobox family. NA PE1 11 +NX_Q9H165 B-cell lymphoma/leukemia 11A 835 91197 6.15 0 Cytoplasm;Nucleoplasm;Nucleus Intellectual developmental disorder with persistence of fetal hemoglobin Transcription factor associated with the BAF SWI/SNF chromatin remodeling complex (By similarity). Repressor of fetal hemoglobin (HbF) level (PubMed:26375765). Involved in brain development (PubMed:27453576). May play a role in hematopoiesis. Essential factor in lymphopoiesis required for B-cell formation in fetal liver. May function as a modulator of the transcriptional repression activity of ARP1 (By similarity). Sumoylated with SUMO1. NA NA PE1 2 +NX_Q9H169 Stathmin-4 189 22071 5.76 0 Golgi apparatus;Growth cone;Axon;Cytoplasmic vesicle NA Exhibits microtubule-destabilizing activity. NA Belongs to the stathmin family. NA PE1 8 +NX_Q9H171 Z-DNA-binding protein 1 429 46343 6.29 0 NA NA Participates in the detection by the host's innate immune system of DNA from viral, bacterial or even host origin. Plays a role in host defense against tumors and pathogens. Acts as a cytoplasmic DNA sensor which, when activated, induces the recruitment of TBK1 and IRF3 to its C-terminal region and activates the downstream interferon regulatory factor (IRF) and NF-kappa B transcription factors, leading to type-I interferon production. ZBP1-induced NF-kappaB activation probably involves the recruitment of the RHIM containing kinases RIPK1 and RIPK3 (By similarity). NA NA Cytosolic DNA-sensing pathway;RIP-mediated NFkB activation via ZBP1;Regulation of innate immune responses to cytosolic DNA;IRF3 mediated activation of type 1 IFN;ZBP1(DAI) mediated induction of type I IFNs PE1 20 +NX_Q9H172 ATP-binding cassette sub-family G member 4 646 71896 8.49 6 Membrane NA May be involved in macrophage lipid homeostasis. NA Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. ABC transporters;ABC transporters in lipid homeostasis PE1 11 +NX_Q9H173 Nucleotide exchange factor SIL1 461 52085 5.27 0 Endoplasmic reticulum lumen Marinesco-Sjoegren syndrome Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5. N-glycosylated. Belongs to the SIL1 family. Protein processing in endoplasmic reticulum PE1 5 +NX_Q9H175 Cysteine/serine-rich nuclear protein 2 543 59591 4.68 0 Nucleus speckle;Nucleus NA Binds to the consensus sequence 5'-AGAGTG-3' and has transcriptional activator activity (By similarity). May play a role in apoptosis. NA Belongs to the AXUD1 family. NA PE1 12 +NX_Q9H190 Syntenin-2 292 31594 9.15 0 Cytoplasm;Nucleus speckle;Cell membrane;Nucleolus;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA Binds phosphatidylinositol 4,5-bisphosphate (PIP2). May play a role in the organization of nuclear PIP2, cell division and cell survival (PubMed:15961997). NA NA NA PE1 20 +NX_Q9H195 Mucin-3B 1237 131402 5.28 1 Membrane NA Major glycoprotein component of a variety of mucus gels. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces (By similarity). Highly O-glycosylated and probably also N-glycosylated. NA O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1) PE2 7 +NX_Q9H1A3 Methyltransferase-like protein 9 318 36536 6.96 0 Nucleoplasm;Cytosol;Cell junction NA NA NA Belongs to the DREV family. NA PE1 16 +NX_Q9H1A4 Anaphase-promoting complex subunit 1 1944 216500 5.88 0 Cytoplasmic vesicle NA Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Phosphorylated. Phosphorylation on Ser-355 occurs specifically during mitosis. Belongs to the APC1 family. Protein modification; protein ubiquitination.;Cell cycle;Oocyte meiosis;Ubiquitin mediated proteolysis;Progesterone-mediated oocyte maturation;HTLV-I infection;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;CDK-mediated phosphorylation and removal of Cdc6;Antigen processing: Ubiquitination & Proteasome degradation;Senescence-Associated Secretory Phenotype (SASP);Autodegradation of Cdh1 by Cdh1:APC/C;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of Cyclin B;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;APC/C:Cdc20 mediated degradation of mitotic proteins;Phosphorylation of the APC/C;APC-Cdc20 mediated degradation of Nek2A PE1 2 +NX_Q9H1A7 DNA-directed RNA polymerase II subunit RPB11-b2 115 13092 5.88 0 Nucleus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB11 is part of the core element with the central large cleft (By similarity). NA Belongs to the archaeal RpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family. NA PE2 7 +NX_Q9H1B4 Nuclear RNA export factor 5 397 45628 9.1 0 Cytoplasm;Nucleus NA Could be involved in the export of mRNA from the nucleus to the cytoplasm. Could also have a role in polarized cytoplasmic transport and localization of mRNA in neurons. NA Belongs to the NXF family. Ribosome biogenesis in eukaryotes;RNA transport;mRNA surveillance pathway;Influenza A;Herpes simplex infection PE2 X +NX_Q9H1B5 Xylosyltransferase 2 865 96767 8.5 1 Cytosol;Secreted;Nucleus;Golgi apparatus membrane Spondyloocular syndrome;Pseudoxanthoma elasticum Catalyzes the first step in the biosynthesis of chondroitin sulfate, heparan sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Contains disulfide bonds. Belongs to the glycosyltransferase 14 family. XylT subfamily. Glycan metabolism; heparan sulfate biosynthesis.;Glycan metabolism; chondroitin sulfate biosynthesis.;Glycosaminoglycan biosynthesis - chondroitin sulfate;Glycosaminoglycan biosynthesis - heparan sulfate;Metabolic pathways;A tetrasaccharide linker sequence is required for GAG synthesis PE1 17 +NX_Q9H1B7 Probable E3 ubiquitin-protein ligase IRF2BPL 796 82659 8.56 0 Nucleoplasm;Nucleus Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Probable E3 ubiquitin protein ligase involved in the proteasome-mediated ubiquitin-dependent degradation of target proteins (PubMed:29374064). Through the degradation of CTNNB1, functions downstream of FOXF2 to negatively regulate the Wnt signaling pathway (PubMed:29374064). Probably plays a role in the development of the central nervous system and in neuronal maintenance (Probable). Also acts as a transcriptional regulator of genes controlling female reproductive function. May play a role in gene transcription by transactivating GNRH1 promoter and repressing PENK promoter (By similarity). NA Belongs to the IRF2BP family. Protein modification; protein ubiquitination. PE1 14 +NX_Q9H1C0 Lysophosphatidic acid receptor 5 372 41347 10.22 7 Cell membrane NA Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. NA Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;G alpha (q) signalling events;Lysosphingolipid and LPA receptors PE1 12 +NX_Q9H1C3 Glycosyltransferase 8 domain-containing protein 2 349 40026 6.57 1 Membrane;Golgi apparatus;Cytoplasmic vesicle NA NA NA Belongs to the glycosyltransferase 8 family. NA PE1 12 +NX_Q9H1C4 Protein unc-93 homolog B1 597 66631 6.48 12 Endoplasmic reticulum membrane;Nucleoplasm;Endosome;Phagosome;Lysosome Encephalopathy, acute, infection-induced, Herpes-specific, 1 Plays an important role in innate and adaptive immunity by regulating nucleotide-sensing Toll-like receptor (TLR) signaling. Required for the transport of a subset of TLRs (including TLR3, TLR7 and TLR9) from the endoplasmic reticulum to endolysosomes where they can engage pathogen nucleotides and activate signaling cascades. May play a role in autoreactive B-cells removal. N-glycosylated. Belongs to the unc-93 family. Trafficking and processing of endosomal TLR;UNC93B1 deficiency - HSE PE1 11 +NX_Q9H1C7 Cysteine-rich and transmembrane domain-containing protein 1 97 10631 4.2 1 Membrane NA NA NA Belongs to the CYSTM1 family. Neutrophil degranulation PE1 5 +NX_Q9H1D0 Transient receptor potential cation channel subfamily V member 6 765 87286 7.86 6 Cell membrane Hyperparathyroidism, transient neonatal Calcium selective cation channel that mediates Ca(2+) uptake in various tissues, including the intestine (PubMed:11097838, PubMed:11278579, PubMed:11248124 PubMed:15184369, PubMed:23612980, PubMed:29258289). Important for normal Ca(2+) ion homeostasis in the body, including bone and skin (By similarity). The channel is activated by low internal calcium level, probably including intracellular calcium store depletion, and the current exhibits an inward rectification (PubMed:15184369). Inactivation includes both a rapid Ca(2+)-dependent and a slower Ca(2+)-calmodulin-dependent mechanism; the latter may be regulated by phosphorylation. In vitro, is slowly inhibited by Mg(2+) in a voltage-independent manner. Heteromeric assembly with TRPV5 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating. Glycosylated.;Phosphorylation at Tyr-201 by SRC leads to an increased calcium influx through the channel. Probably dephosphorylated at this site by PTPN1 (By similarity). Phosphorylation by PRKCA at the calmodulin binding site delays channel inactivation (PubMed:11248124). Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV6 sub-subfamily. Salivary secretion;Mineral absorption;TRP channels PE1 7 +NX_Q9H1D9 DNA-directed RNA polymerase III subunit RPC6 316 35684 5.79 0 Nucleoplasm;Nucleus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. May direct RNA Pol III binding to the TFIIIB-DNA complex. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway. Preferentially binds double-stranded DNA (dsDNA) (PubMed:21358628). NA Belongs to the eukaryotic RPC34/RPC39 RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Cytosolic DNA-sensing pathway;Cytosolic sensors of pathogen-associated DNA;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter PE1 20 +NX_Q9H1E1 Ribonuclease 7 156 17419 9.76 0 Secreted NA Exhibits a potent RNase activity (PubMed:12244054, PubMed:12527768, PubMed:17150966). Has broad-spectrum antimicrobial activity against many pathogenic microorganisms and remarkably potent activity (lethal dose of 90% < 30 nM) against a vancomycin resistant Enterococcus faecium (PubMed:12244054, PubMed:12527768, PubMed:25075772, PubMed:17150966). Causes loss of bacterial membrane integrity (PubMed:17150966). Probably contributes to urinary tract sterility (PubMed:25075772). Bactericidal activity is independent of RNase activity (PubMed:17150966). NA Belongs to the pancreatic ribonuclease family. Antimicrobial peptides PE1 14 +NX_Q9H1E3 Nuclear ubiquitous casein and cyclin-dependent kinase substrate 1 243 27296 5 0 Nucleoplasm;Nucleolus;Nucleus NA NA Phosphorylated by CDK1 and casein kinase. NA NA PE1 1 +NX_Q9H1E5 Thioredoxin-related transmembrane protein 4 349 38952 4.31 1 Nucleus inner membrane;Nucleus membrane NA NA NA NA NA PE1 20 +NX_Q9H1F0 WAP four-disulfide core domain protein 10A 79 8943 8.8 0 Secreted NA NA NA NA NA PE2 20 +NX_Q9H1H1 Gametocyte-specific factor 1-like 148 16872 6.3 0 Nucleolus NA NA NA Belongs to the UPF0224 (FAM112) family. NA PE1 20 +NX_Q9H1H9 Kinesin-like protein KIF13A 1805 202308 5.43 0 Endosome membrane;Centrosome;Midbody;Golgi apparatus membrane NA Plus end-directed microtubule-dependent motor protein involved in intracellular transport and regulating various processes such as mannose-6-phosphate receptor (M6PR) transport to the plasma membrane, endosomal sorting during melanosome biogenesis and cytokinesis. Mediates the transport of M6PR-containing vesicles from trans-Golgi network to the plasma membrane via direct interaction with the AP-1 complex. During melanosome maturation, required for delivering melanogenic enzymes from recycling endosomes to nascent melanosomes by creating peripheral recycling endosomal subdomains in melanocytes. Also required for the abcission step in cytokinesis: mediates translocation of ZFYVE26, and possibly TTC19, to the midbody during cytokinesis. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Association of TriC/CCT with target proteins during biosynthesis PE1 6 +NX_Q9H1I8 Activating signal cointegrator 1 complex subunit 2 757 86360 5.02 0 Nucleus speckle;Focal adhesion;Nucleoplasm;Cytosol;Nucleus NA Plays a role in DNA damage repair as component of the ASCC complex. Recruits ASCC3 and ALKBH3 to sites of DNA damage by binding to polyubiquitinated proteins that have 'Lys-63'-linked polyubiquitin chains (PubMed:29144457). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). NA Belongs to the ASCC2 family. ALKBH3 mediated reversal of alkylation damage PE1 22 +NX_Q9H1J1 Regulator of nonsense transcripts 3A 476 54696 9.12 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. However, UPF3A is shown to be only marginally active in NMD as compared to UPF3B. Binds spliced mRNA upstream of exon-exon junctions. In vitro, weakly stimulates translation. NA Belongs to the RENT3 family. RNA transport;mRNA surveillance pathway;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Regulation of expression of SLITs and ROBOs PE1 13 +NX_Q9H1J5 Protein Wnt-8a 351 38849 8.1 0 Extracellular matrix;Secreted NA Ligand for members of the frizzled family of seven transmembrane receptors. Plays a role in embryonic patterning. Palmitoleoylation is required for efficient binding to frizzled receptors (By similarity). Depalmitoleoylation leads to Wnt signaling pathway inhibition (By similarity).;Proteolytic processing by TIKI1 and TIKI2 promotes oxidation and formation of large disulfide-bond oligomers, leading to inactivation of WNT8A. Belongs to the Wnt family. Wnt signaling pathway;Hedgehog signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors);TCF dependent signaling in response to WNT;Disassembly of the destruction complex and recruitment of AXIN to the membrane PE1 5 +NX_Q9H1J7 Protein Wnt-5b 359 40323 8.8 0 Cytoplasmic vesicle;Extracellular matrix NA Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity). Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Belongs to the Wnt family. Wnt signaling pathway;Hedgehog signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;WNT ligand biogenesis and trafficking;PCP/CE pathway PE1 12 +NX_Q9H1K0 Rabenosyn-5 784 88870 5.36 0 Early endosome membrane;Cytoplasmic vesicle;Cell membrane NA Rab4/Rab5 effector protein acting in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Required for endosome fusion either homotypically or with clathrin coated vesicles. Plays a role in the lysosomal trafficking of CTSD/cathepsin D from the Golgi to lysosomes. Also promotes the recycling of transferrin directly from early endosomes to the plasma membrane. Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate (PtdInsP3) (PubMed:11062261, PubMed:11788822, PubMed:15020713). Plays a role in the recycling of transferrin receptor to the plasma membrane (PubMed:22308388). NA NA Factors involved in megakaryocyte development and platelet production;Toll Like Receptor 9 (TLR9) Cascade PE1 3 +NX_Q9H1K1 Iron-sulfur cluster assembly enzyme ISCU, mitochondrial 167 17999 9.54 0 Cytoplasm;Cytosol;Mitochondrion;Nucleus Myopathy with exercise intolerance Swedish type Scaffold protein for the de novo synthesis of iron-sulfur (Fe-S) clusters within mitochondria, which is required for maturation of both mitochondrial and cytoplasmic [2Fe-2S] and [4Fe-4S] proteins (PubMed:11060020). First, a [2Fe-2S] cluster is transiently assembled on the scaffold protein ISCU. In a second step, the cluster is released from ISCU, transferred to a glutaredoxin GLRX5, followed by the formation of mitochondrial [2Fe-2S] proteins, the synthesis of [4Fe-4S] clusters and their target-specific insertion into the recipient apoproteins. Cluster assembly on ISCU depends on the function of the cysteine desulfurase complex NFS1-LYRM4/ISD11, which serves as the sulfur donor for cluster synthesis, the iron-binding protein frataxin as the putative iron donor, and the electron transfer chain comprised of ferredoxin reductase and ferredoxin, which receive their electrons from NADH (By similarity).;Functions as a cytoplasmic scaffold protein for the de novo synthesis of iron-sulfur clusters in the cytoplasm. NA Belongs to the NifU family. Mitochondrial iron-sulfur cluster biogenesis PE1 12 +NX_Q9H1K4 Mitochondrial glutamate carrier 2 315 33849 9.39 6 Mitochondrion inner membrane NA Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+). NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Organic anion transporters PE1 22 +NX_Q9H1K6 Talin rod domain-containing protein 1 362 37758 8.54 0 Nucleoplasm;Cytosol NA Actin-binding protein which may have an oncogenic function and regulates cell proliferation, migration and invasion in cancer cells. NA NA NA PE1 15 +NX_Q9H1L0 Uncharacterized protein MIR1-1HG 117 12410 6.4 0 NA NA NA NA NA NA PE4 20 +NX_Q9H1M0 Nucleoporin-62 C-terminal-like protein 184 20837 4.41 0 NA NA NA NA Belongs to the nucleoporin NSP1/NUP62 family. NA PE1 X +NX_Q9H1M3 Beta-defensin 129 183 20299 9.04 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE1 20 +NX_Q9H1M4 Beta-defensin 127 99 11343 9.05 0 Secreted NA Has antibacterial activity. NA Belongs to the beta-defensin family. Beta defensins;Defensins PE1 20 +NX_Q9H1N7 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 401 44593 9.34 10 Golgi apparatus membrane NA Mediates the transport of adenosine 3'-phospho 5'-phosphosulfate (PAPS), from cytosol into Golgi. PAPS is a universal sulfuryl donor for sulfation events that take place in the Golgi. Compensates for the insufficient expression of SLC35B2/PAPST1 during the synthesis of sulfated glycoconjugates in the colon. NA Belongs to the nucleotide-sugar transporter family. SLC35B subfamily. Transport and synthesis of PAPS;Transport of nucleotide sugars PE1 6 +NX_Q9H1P3 Oxysterol-binding protein-related protein 2 480 55201 5.94 0 Cytosol;Lipid droplet;Cell membrane Deafness, autosomal dominant, 67 Intracellular transport protein that binds sterols and phospholipids and mediates lipid transport between intracellular compartments. Increases plasma membrane cholesterol levels and decreases phosphatidylinositol-4,5-bisphosphate levels in the cell membrane (PubMed:30581148). Binds phosphoinositides, such as phosphatidylinositol-4,5-bisphosphate (PubMed:30581148). Exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (PubMed:11279184). Binds cholesterol, dehydroergosterol, 22(R)-hydroxycholesterol and 25-hydroxycholesterol (in vitro) (PubMed:17428193, PubMed:19224871, PubMed:30581148). NA Belongs to the OSBP family. Synthesis of bile acids and bile salts PE1 20 +NX_Q9H1P6 Uncharacterized protein C20orf85 137 15719 8.72 0 NA NA NA NA NA NA PE1 20 +NX_Q9H1Q7 PC-esterase domain-containing protein 1A 454 51782 6.41 0 Nucleoplasm;Cytosol NA NA NA Belongs to the PC-esterase family. NA PE1 20 +NX_Q9H1R2 Dual specificity protein phosphatase 15 295 31882 8.77 0 Cytoplasm;Cytosol;Cell membrane NA May play a role in the regulation of oligodendrocyte differentiation. May play a role in the regulation of myelin formation (By similarity). Involved in the regulation of Erk1/2 phosphorylation in Schwann cells; the signaling may be linked to the regulation of myelination (By similarity).;May dephosphorylate MAPK13, ATF2, ERBB3, PDGFRB and SNX6 (PubMed:22792334). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. NA PE1 20 +NX_Q9H1R3 Myosin light chain kinase 2, skeletal/cardiac muscle 596 64685 6.6 0 Endoplasmic reticulum;Cytoplasm Cardiomyopathy, familial hypertrophic Implicated in the level of global muscle contraction and cardiac function. Phosphorylates a specific serine in the N-terminus of a myosin light chain. NA Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Calcium signaling pathway;Vascular smooth muscle contraction;Focal adhesion;Regulation of actin cytoskeleton;Gastric acid secretion PE1 20 +NX_Q9H1U4 Multiple epidermal growth factor-like domains protein 9 602 62984 5.45 1 Membrane;Nucleoplasm;Cytosol NA NA NA NA NA PE1 9 +NX_Q9H1U9 Solute carrier family 25 member 51 297 33672 9.51 6 Mitochondrion inner membrane NA NA NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 9 +NX_Q9H1V8 Sodium-dependent neutral amino acid transporter SLC6A17 727 81001 5.68 12 Golgi apparatus;Postsynapse;Nucleolus;Nucleoplasm;Presynapse;Synaptic vesicle membrane Mental retardation, autosomal recessive 48 Functions as a sodium-dependent vesicular transporter selective for proline, glycine, leucine and alanine. In contrast to other members of this neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity). NA Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A17 subfamily. NA PE1 1 +NX_Q9H1X1 Radial spoke head protein 9 homolog 276 31292 5.28 0 Cilium axoneme Ciliary dyskinesia, primary, 12 Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk, which is attached to a subfiber of the outer doublet microtubule, and a bulbous head, which is attached to the stalk and appears to interact with the projections from the central pair of microtubules. NA Belongs to the flagellar radial spoke RSP9 family. NA PE1 6 +NX_Q9H1X3 DnaJ homolog subfamily C member 25 360 42404 9.2 3 Membrane;Nucleoplasm;Cytosol NA NA NA Belongs to the DNAJC25 family. NA PE1 9 +NX_Q9H1Y0 Autophagy protein 5 275 32447 5.48 0 Cytoplasm;Preautophagosomal structure membrane;Centrosome Spinocerebellar ataxia, autosomal recessive, 25 (Microbial infection) May act as a proviral factor. In association with ATG12, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for initiation of HCV replication, but not required once infection is established (PubMed:19666601).;May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity. Plays a crucial role in IFN-gamma-induced autophagic cell death by interacting with FADD.;Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is essential for both B and T lymphocyte survival and proliferation. Required for optimal processing and presentation of antigens for MHC II. Involved in the maintenance of axon morphology and membrane structures, as well as in normal adipocyte differentiation. Promotes primary ciliogenesis through removal of OFD1 from centriolar satellites and degradation of IFT20 via the autophagic pathway. Acetylated by EP300.;Conjugated to ATG12; which is essential for autophagy, but is not required for association with isolation membrane. Belongs to the ATG5 family. Regulation of autophagy;RIG-I-like receptor signaling pathway;Shigellosis;Macroautophagy;Negative regulators of DDX58/IFIH1 signaling;Pink/Parkin Mediated Mitophagy;Receptor Mediated Mitophagy PE1 6 +NX_Q9H1Y3 Opsin-3 402 44873 9.3 7 Membrane;Nucleoplasm NA May play a role in encephalic photoreception. NA Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. G alpha (i) signalling events;Opsins PE1 1 +NX_Q9H1Z4 WD repeat-containing protein 13 485 53696 9.33 0 Nucleoplasm;Centriolar satellite;Nucleus;Cell membrane NA NA NA NA NA PE1 X +NX_Q9H1Z8 Augurin 148 17183 8.57 0 Cytoplasm;Apical cell membrane;Secreted NA Probable hormone that may attenuate cell proliferation and induce senescence of oligodendrocyte and neural precursor cells in the central nervous system (By similarity). ECRG4-induced senescence is characterized by G1 arrest, RB1 dephosphorylation and accelerated CCND1 and CCND3 proteasomal degradation (By similarity). NA Belongs to the augurin family. NA PE1 2 +NX_Q9H1Z9 Tetraspanin-10 355 36498 5.57 3 Membrane NA Regulates maturation of the transmembrane metalloprotease ADAM10. NA Belongs to the tetraspanin (TM4SF) family. NA PE1 17 +NX_Q9H201 Epsin-3 632 68222 5.64 0 Clathrin-coated vesicle;Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Perinuclear region;Nucleus NA NA NA Belongs to the epsin family. Endocytosis PE1 17 +NX_Q9H204 Mediator of RNA polymerase II transcription subunit 28 178 19520 5.39 0 Membrane;Cytoplasm;Nucleoplasm;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. May be part of a complex containing NF2/merlin that participates in cellular signaling to the actin cytoskeleton downstream of tyrosine kinase signaling pathways. MED28 is phosphorylated by FYN (Phosphotyrosine:PTM-0255) Belongs to the Mediator complex subunit 28 family. PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 4 +NX_Q9H205 Olfactory receptor 2AG1 316 35270 8.38 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE1 11 +NX_Q9H207 Olfactory receptor 10A5 317 35519 9.06 7 Cell membrane NA Odorant receptor (Potential). May be involved in taste perception. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q9H208 Olfactory receptor 10A2 303 33817 9.12 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q9H209 Olfactory receptor 10A4 315 35117 7.56 7 Cell membrane NA Odorant receptor (Potential). May be involved in taste perception. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q9H210 Olfactory receptor 2D2 308 34172 9.31 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q9H211 DNA replication factor Cdt1 546 60390 9.82 0 Nucleoplasm;Nucleus;Kinetochore Meier-Gorlin syndrome 4 Required for both DNA replication and mitosis (PubMed:11125146, PubMed:22581055, PubMed:21856198, PubMed:14993212, PubMed:26842564). DNA replication licensing factor, required for pre-replication complex assembly. Cooperates with CDC6 and the origin recognition complex (ORC) during G1 phase of the cell cycle to promote the loading of the mini-chromosome maintenance (MCM) complex onto DNA to generate pre-replication complexes (pre-RC)(PubMed:14672932). Required also for mitosis by promoting stable kinetochore-microtubule attachments (PubMed:22581055). Potential oncogene (By similarity). Two independent E3 ubiquitin ligase complexes, SCF(SKP2) and the DCX(DTL) complex, mediated CDT1 degradation in S phase. Ubiquitinated by the DCX(DTL) complex, in response to DNA damage, leading to its degradation. Ubiquitination by the DCX(DTL) complex is necessary to ensure proper cell cycle regulation and is PCNA-dependent: interacts with PCNA via its PIP-box, while the presence of the containing the 'K+4' motif in the PIP box, recruit the DCX(DTL) complex, leading to its degradation. Phosphorylation at Thr-29 by CDK2 targets CDT1 for ubiquitination by SCF(SKP2) E3 ubiquitin ligase and subsequent degradation (PubMed:14993212). The interaction with GMNN protects it against ubiquitination. Deubiquitinated by USP37 (PubMed:27296872).;Phosphorylation by cyclin A-dependent kinases at Thr-29 targets CDT1 for ubiquitynation by SCF(SKP2) E3 ubiquitin ligase and subsequent degradation (PubMed:14993212). Phosphorylated at Thr-29 by MAPK8/JNK1, which blocks replication licensing in response to stress (PubMed:21856198). Binding to GMNN is not affected by phosphorylation.;CDT1 is phosphorylated by CDK4 Belongs to the Cdt1 family. CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;Assembly of the pre-replicative complex;Activation of the pre-replicative complex;G1/S-Specific Transcription PE1 16 +NX_Q9H213 Melanoma-associated antigen H1 219 24441 9.05 0 Nucleolus NA NA NA NA NA PE1 X +NX_Q9H221 ATP-binding cassette sub-family G member 8 673 75679 8.52 6 Cytoplasmic vesicle;Apical cell membrane;Cell membrane Gallbladder disease 4;Sitosterolemia ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11452359, PubMed:27144356, PubMed:15054092). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11452359, PubMed:15054092). The heterodimer with ABCG5 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356). N-glycosylated. Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. ABC transporters;Fat digestion and absorption;Bile secretion;ABC transporters in lipid homeostasis;Defective ABCG8 causes gallbladder disease 4 and sitosterolemia;Defective ABCG5 causes sitosterolemia PE1 2 +NX_Q9H222 ATP-binding cassette sub-family G member 5 651 72504 9.15 6 Apical cell membrane;Cell membrane Sitosterolemia ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane (PubMed:27144356). Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11138003, PubMed:27144356, PubMed:15054092). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11138003, PubMed:15054092). The heterodimer with ABCG8 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356). N-glycosylated. Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. ABC transporters;Fat digestion and absorption;Bile secretion;ABC transporters in lipid homeostasis;Defective ABCG8 causes gallbladder disease 4 and sitosterolemia;Defective ABCG5 causes sitosterolemia PE1 2 +NX_Q9H223 EH domain-containing protein 4 541 61175 6.33 0 Early endosome membrane;Recycling endosome membrane;Cell membrane NA ATP- and membrane-binding protein that probably controls membrane reorganization/tubulation upon ATP hydrolysis. Plays a role in early endosomal transport. NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. EHD subfamily. Endocytosis PE1 15 +NX_Q9H227 Cytosolic beta-glucosidase 469 53696 5.39 0 Cytosol NA Neutral cytosolic beta-glycosidase with a broad substrate specificity that could play a role in the catabolism of glycosylceramides (PubMed:11389701, PubMed:11784319, PubMed:20728381, PubMed:26724485, PubMed:17595169). Has a significant glucosylceramidase activity in vitro (PubMed:26724485, PubMed:17595169). However, that activity is relatively low and its significance in vivo is not clear (PubMed:26724485, PubMed:17595169, PubMed:20728381). Also able to hydrolyze galactosylceramide/GalCer, glucosylsphingosine/GlcSph and galactosylsphingosine/GalSph (PubMed:17595169). However, the in vivo relevance of these activities is unclear (PubMed:17595169). It can also hydrolyze a broad variety of dietary glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens in vitro and could therefore play a role in the metabolism of xenobiotics (PubMed:11784319). Could also play a role in the catabolism of cytosolic sialyl free N-glycans (PubMed:26193330). The N-terminus is blocked. Belongs to the glycosyl hydrolase 1 family. Klotho subfamily. Cyanoamino acid metabolism;Starch and sucrose metabolism;Glycosphingolipid metabolism PE1 4 +NX_Q9H228 Sphingosine 1-phosphate receptor 5 398 41775 9.86 7 Cell membrane NA Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. Is coupled to both the G(i/0)alpha and G(12) subclass of heteromeric G-proteins (By similarity). May play a regulatory role in the transformation of radial glial cells into astrocytes and may affect proliferative activity of these cells. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Lysosphingolipid and LPA receptors PE1 19 +NX_Q9H237 Protein-serine O-palmitoleoyltransferase porcupine 461 52318 9.08 8 Cytoplasmic vesicle;Endoplasmic reticulum membrane Focal dermal hypoplasia Protein-serine O-palmitoleoyltransferase that acts as a key regulator of the Wnt signaling pathway by mediating the attachment of palmitoleate, a 16-carbon monounsaturated fatty acid (C16:1), to Wnt proteins. Serine palmitoleylation of WNT proteins is required for efficient binding to frizzled receptors. NA Belongs to the membrane-bound acyltransferase family. Porcupine subfamily. Wnt signaling pathway;WNT ligand biogenesis and trafficking;WNT ligand secretion is abrogated by the PORCN inhibitor LGK974 PE1 X +NX_Q9H239 Matrix metalloproteinase-28 520 58939 9.7 0 Extracellular matrix;Nucleoplasm;Focal adhesion NA Can degrade casein. Could play a role in tissues homeostasis and repair. The precursor is cleaved by a furin endopeptidase. Belongs to the peptidase M10A family. NA PE1 17 +NX_Q9H244 P2Y purinoceptor 12 342 39439 9.6 7 Cell membrane Bleeding disorder, platelet-type 8 Receptor for ADP and ATP coupled to G-proteins that inhibit the adenylyl cyclase second messenger system. Not activated by UDP and UTP. Required for normal platelet aggregation and blood coagulation. NA Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;P2Y receptors;ADP signalling through P2Y purinoceptor 12 PE1 3 +NX_Q9H246 Uncharacterized protein C1orf21 121 13865 5.17 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 1 +NX_Q9H251 Cadherin-23 3354 369494 4.5 1 Cell membrane Usher syndrome 1D;Deafness, autosomal recessive, 12;Usher syndrome 1D/F;Pituitary adenoma 5, multiple types Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. NA NA NA PE1 10 +NX_Q9H252 Potassium voltage-gated channel subfamily H member 6 994 109925 6.55 6 Membrane NA Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, rectifying current (By similarity). Channel properties may be modulated by cAMP and subunit assembly. NA Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.2/KCNH6 sub-subfamily. Voltage gated Potassium channels PE1 17 +NX_Q9H254 Spectrin beta chain, non-erythrocytic 4 2564 288985 5.72 0 Nucleoplasm;Cell cortex;Nucleolus;Cytoskeleton Neurodevelopmental disorder with hypotonia, neuropathy, and deafness NA NA Belongs to the spectrin family. RAF/MAP kinase cascade;Interaction between L1 and Ankyrins;NCAM signaling for neurite out-growth;COPI-mediated anterograde transport PE1 19 +NX_Q9H255 Olfactory receptor 51E2 320 35493 9.16 7 Early endosome membrane;Cell membrane NA Olfactory receptor (PubMed:29249973, PubMed:27226631). Activated by the odorant, beta-ionone, a synthetic terpenoid (PubMed:29249973, PubMed:27226631, PubMed:19389702). The activity of this receptor is propably mediated by G-proteins leading to the elevation of intracellular Ca(2+), cAMP and activation of the protein kinases PKA and MAPK3/MAPK1 (PubMed:27226631, PubMed:29249973). Stimulation of OR51E2 by beta-ionone affects melanocyte proliferation, differentiation, and melanogenesis (PubMed:27226631). Activation of OR51E2 by beta-ionone increases proliferation and migration of primary retinal pigment epithelial (RPE) cells (PubMed:29249973). Activated also by the short-chain fatty acids (SCFA) acetate and propionate. In response to SCFA, may positively regulate renin secretion and increase blood pressure (PubMed:23401498). May also be activated by steroid hormones and regulate cell proliferation (PubMed:19389702). Activated by L-lactate in glomus cells (By similarity). NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE1 11 +NX_Q9H257 Caspase recruitment domain-containing protein 9 536 62241 5.79 0 Cytoplasm Candidiasis, familial, 2 Adapter protein that plays a key role in innate immune response to a number of intracellular pathogens, such as C.albicans and L.monocytogenes. Is at the crossroads of ITAM-tyrosine kinase and the Toll-like receptors (TLR) and NOD2 signaling pathways. Probably controls various innate immune response pathways depending on the intracellular pathogen. In response to L.monocytogenes infection, acts by connecting NOD2 recognition of peptidoglycan to downstream activation of MAP kinases (MAPK) without activating NF-kappa-B. Also involved in activation of myeloid cells via classical ITAM-associated receptors and TLR: required for TLR-mediated activation of MAPK, while it is not required for TLR-induced activation of NF-kappa-B (By similarity). Controls CLEC7A (dectin-1)-mediated myeloid cell activation induced by the yeast cell wall component zymosan, leading to cytokine production and innate anti-fungal immunity: acts by regulating BCL10-MALT1-mediated NF-kappa-B activation pathway. Activates NF-kappa-B via BCL10. In response to the hyphal form of C.albicans, mediates CLEC6A (dectin-2)-induced I-kappa-B kinase ubiquitination, leading to NF-kappa-B activation via interaction with BCL10. In response to fungal infection, may be required for the development and subsequent differentiation of interleukin 17-producing T helper (TH-17) cells. Phosphorylated at Thr-531 and Thr-533 by CK2 following interaction with VHL, leading to inhibit the ability to activate NF-kappa-B. NA NOD-like receptor signaling pathway;Tuberculosis;CLEC7A (Dectin-1) signaling;NOD1/2 Signaling Pathway PE1 9 +NX_Q9H267 Vacuolar protein sorting-associated protein 33B 617 70585 6.29 0 Clathrin-coated vesicle;Recycling endosome;Early endosome;Lysosome membrane;Late endosome membrane Arthrogryposis, renal dysfunction and cholestasis syndrome 1 May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Mediates phagolysosomal fusion in macrophages (PubMed:18474358). Proposed to be involved in endosomal maturation implicating VIPAS39. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical recycling pathway and in the maintenance of the apical-basolateral polarity (PubMed:20190753). Seems to be involved in the sorting of specific cargos from the trans-Golgi network to alpha-granule-destined multivesicular bodies (MVBs) promoting MVBs maturation in megakaryocytes (By similarity). Phosphorylated on tyrosine residues. Dephosphorylation by M.tuberculosis PtpA is necessary to induce the reduction of host phagolysosome fusion in M.tuberculosis-infected macrophages. Belongs to the STXBP/unc-18/SEC1 family. NA PE1 15 +NX_Q9H269 Vacuolar protein sorting-associated protein 16 homolog 839 94694 6.32 0 Clathrin-coated vesicle;Early endosome;Lysosome membrane;Autophagosome;Late endosome membrane NA Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:11382755, PubMed:23351085, PubMed:24554770, PubMed:25266290, PubMed:25783203). Required for recruitment of VPS33A to the HOPS complex (PubMed:23901104). Required for fusion of endosomes and autophagosomes with lysosomes; the function is dependent on its association with VPS33A but not VPS33B (PubMed:25783203). The function in autophagosome-lysosome fusion implicates STX17 but not UVRAG (PubMed:24554770). NA Belongs to the VPS16 family. NA PE1 20 +NX_Q9H270 Vacuolar protein sorting-associated protein 11 homolog 941 107837 6.6 0 Clathrin-coated vesicle;Early endosome;Lysosome membrane;Endosome;Autophagosome;Cytoplasmic vesicle;Cytosol;Late endosome membrane Leukodystrophy, hypomyelinating, 12 Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:11382755, PubMed:23351085, PubMed:24554770, PubMed:25266290, PubMed:25783203). Required for fusion of endosomes and autophagosomes with lysosomes (PubMed:25783203). Involved in cargo transport from early to late endosomes and required for the transition from early to late endosomes (PubMed:21148287). Involved in the retrograde Shiga toxin transport (PubMed:23593995). NA Belongs to the VPS11 family. NA PE1 11 +NX_Q9H293 Interleukin-25 177 20330 8.73 0 Secreted NA Induces activation of NF-kappa-B and stimulates production of the proinflammatory chemokine IL-8. Proinflammatory cytokine favoring Th2-type immune responses. NA Belongs to the IL-17 family. Cytokine-cytokine receptor interaction;Interleukin-17 signaling PE1 14 +NX_Q9H295 Dendritic cell-specific transmembrane protein 470 53393 9.41 6 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endosome;Endoplasmic reticulum membrane;Cell membrane NA Probable cell surface receptor that plays several roles in cellular fusion, cell differentiation, bone and immune homeostasis. Plays a role in TNFSF11-mediated osteoclastogenesis. Cooperates with OCSTAMP in modulating cell-cell fusion in both osteoclasts and foreign body giant cells (FBGCs). Participates in osteoclast bone resorption. Involved in inducing the expression of tartrate-resistant acid phosphatase in osteoclast precursors. Plays a role in haematopoietic stem cell differentiation of bone marrow cells toward the myeloid lineage. Inhibits the development of neutrophilic granulocytes. Plays also a role in the regulation of dendritic cell (DC) antigen presentation activity by controlling phagocytic activity. Involved in the maintenance of immune self-tolerance and avoidance of autoimmune reactions. Glycosylated. NA CREB3 factors activate genes PE1 8 +NX_Q9H299 SH3 domain-binding glutamic acid-rich-like protein 3 93 10438 4.82 0 Cytoplasm;Nucleus NA Could act as a modulator of glutaredoxin biological activity. NA Belongs to the SH3BGR family. NA PE1 1 +NX_Q9H2A2 2-aminomuconic semialdehyde dehydrogenase 487 53401 6.76 0 Cytoplasm;Centrosome NA Catalyzes the NAD-dependent oxidation of 2-aminomuconic semialdehyde of the kynurenine metabolic pathway in L-tryptophan degradation. NA Belongs to the aldehyde dehydrogenase family. Amino-acid degradation; L-kynurenine degradation.;RA biosynthesis pathway PE1 6 +NX_Q9H2A3 Neurogenin-2 272 28621 7.65 0 Nucleus NA Transcriptional regulator. Involved in neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). NA NA NA PE2 4 +NX_Q9H2A7 C-X-C motif chemokine 16 254 27579 9.06 1 Golgi apparatus;Cytoplasmic vesicle;Secreted;Cell membrane NA Acts as a scavenger receptor on macrophages, which specifically binds to OxLDL (oxidized low density lipoprotein), suggesting that it may be involved in pathophysiology such as atherogenesis (By similarity). Induces a strong chemotactic response. Induces calcium mobilization. Binds to CXCR6/Bonzo. Glycosylated. Belongs to the intercrine alpha (chemokine CxC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 17 +NX_Q9H2A9 Carbohydrate sulfotransferase 8 424 48834 10.18 1 Golgi apparatus membrane Peeling skin syndrome 3 Catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Required for biosynthesis of glycoprotein hormones lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures. Only active against terminal GalNAcbeta1,GalNAcbeta. Not active toward chondroitin. NA Belongs to the sulfotransferase 2 family. Reactions specific to the complex N-glycan synthesis pathway PE1 19 +NX_Q9H2B2 Synaptotagmin-4 425 47958 8.72 1 Cytoplasmic vesicle;Synaptic vesicle membrane;Cell membrane NA Synaptotagmin family member which does not bind Ca(2+) (PubMed:23999003) (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003). NA Belongs to the synaptotagmin family. NA PE1 18 +NX_Q9H2B4 Sulfate anion transporter 1 701 75016 8.47 9 Basolateral cell membrane;Cytoskeleton;Cell membrane Nephrolithiasis, calcium oxalate Mediates sulfate transport with high affinity (PubMed:12713736). Mediates oxalate transport (PubMed:12713736). Mediates bicarbonate transport (By similarity). Does not accept succinate as cosubstrate (By similarity). NA Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. Transport and synthesis of PAPS;Multifunctional anion exchangers PE1 4 +NX_Q9H2C0 Gigaxonin 597 67638 5.58 0 Cytoplasm;Cytoskeleton Giant axonal neuropathy 1, autosomal recessive Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival. Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for proteasome-independent degradation. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 16 +NX_Q9H2C1 LIM/homeobox protein Lhx5 402 44406 7.87 0 Nucleus NA Plays an essential role in the regulation of neuronal differentiation and migration during development of the central nervous system. NA NA NA PE1 12 +NX_Q9H2C2 Protein ARV1 271 31052 8.59 3 Cytoplasmic vesicle;Endoplasmic reticulum membrane Epileptic encephalopathy, early infantile, 38 Plays a role as a mediator in the endoplasmic reticulum (ER) cholesterol and bile acid homeostasis (PubMed:11063737, PubMed:12145310, PubMed:20663892). Participates in sterol transport out of the ER and distribution into plasma membranes (PubMed:20663892). NA Belongs to the ARV1 family. Cholesterol biosynthesis PE1 1 +NX_Q9H2C5 Olfactory receptor 52A5 316 35955 9.02 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q9H2C8 Olfactory receptor 51V1 321 36749 8.95 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q9H2D1 Mitochondrial folate transporter/carrier 315 35407 9.49 6 Mitochondrion inner membrane;Mitochondrion Exercise intolerance, riboflavin-responsive Transports folate across the inner membranes of mitochondria. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Metabolism of folate and pterines PE1 8 +NX_Q9H2D6 TRIO and F-actin-binding protein 2365 261376 8.86 0 Midbody;Centrosome;Nucleus;Cytoskeleton Deafness, autosomal recessive, 28 May regulate actin cytoskeletal organization, cell spreading and cell contraction by directly binding and stabilizing filamentous F-actin. The localized formation of TARA and TRIO complexes coordinates the amount of F-actin present in stress fibers. May also serve as a linker protein to recruit proteins required for F-actin formation and turnover. Ubiquitinated by HECTD3, leading to its degradation by the proteasome.;Phosphorylation at Thr-457 by PLK1 ensures mitotic progression and is essential for accurate chromosome segregation. NA NA PE1 22 +NX_Q9H2E6 Semaphorin-6A 1030 114395 8.68 1 Nucleoplasm;Cell membrane;Nucleus;Cytoskeleton NA Cell surface receptor for PLXNA2 that plays an important role in cell-cell signaling. Required for normal granule cell migration in the developing cerebellum. Promotes reorganization of the actin cytoskeleton and plays an important role in axon guidance in the developing central nervous system. Can act as repulsive axon guidance cue. Has repulsive action towards migrating granular neurons. May play a role in channeling sympathetic axons into the sympathetic chains and controlling the temporal sequence of sympathetic target innervation (By similarity). NA Belongs to the semaphorin family. Axon guidance;Other semaphorin interactions PE1 5 +NX_Q9H2F3 3 beta-hydroxysteroid dehydrogenase type 7 369 41016 8.48 2 Endoplasmic reticulum membrane;Lipid droplet Congenital bile acid synthesis defect 1 The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis (PubMed:11067870). Plays a key role in cell positioning and movement in lymphoid tissues by mediating degradation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC): 7-alpha,25-OHC acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells. NA Belongs to the 3-beta-HSD family. Lipid metabolism; steroid biosynthesis.;Primary bile acid biosynthesis;Metabolic pathways;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 24-hydroxycholesterol;Synthesis of bile acids and bile salts via 27-hydroxycholesterol PE1 16 +NX_Q9H2F5 Enhancer of polycomb homolog 1 836 93463 8.77 0 Nucleoplasm;Nucleus NA Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when directly recruited to sites of DNA damage. NA Belongs to the enhancer of polycomb family. HATs acetylate histones;Transcriptional Regulation by E2F6 PE1 10 +NX_Q9H2F9 Coiled-coil domain-containing protein 68 335 38869 8.78 0 Golgi apparatus;Cytosol;Centriole NA Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC120, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly (PubMed:28422092). NA NA NA PE1 18 +NX_Q9H2G2 STE20-like serine/threonine-protein kinase 1235 142695 5.08 0 Cytoplasm;Cytosol;Cell membrane NA Mediates apoptosis and actin stress fiber dissolution. Autophosphorylated.;Proteolytically cleaved by caspase-3. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. Oocyte meiosis PE1 10 +NX_Q9H2G4 Testis-specific Y-encoded-like protein 2 693 79435 4.45 0 Cytoplasm;Nucleus NA Part of the CASK/TBR1/TSPYL2 transcriptional complex which modulates gene expression in response to neuronal synaptic activity, probably by facilitating nucleosome assembly. May inhibit cell proliferation by inducing p53-dependent CDKN1A expression. Phosphorylation at Ser-20 and/or Thr-340 impairs function on cell proliferation. Belongs to the nucleosome assembly protein (NAP) family. XBP1(S) activates chaperone genes PE1 X +NX_Q9H2G9 Golgin-45 400 44910 8.74 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Golgi apparatus membrane;Nucleus NA Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the cell surface. ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP-ribosylated protein is recognized by RNF146, followed by ubiquitination.;Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation. NA Golgi Cisternae Pericentriolar Stack Reorganization PE1 1 +NX_Q9H2H0 CXXC-type zinc finger protein 4 198 20978 9.39 0 Cytoplasm NA Acts as a negative regulator of the Wnt signaling pathway via its interaction with DVL1. NA NA Negative regulation of TCF-dependent signaling by DVL-interacting proteins PE1 4 +NX_Q9H2H8 Peptidyl-prolyl cis-trans isomerase-like 3 161 18155 6.29 0 Nucleoplasm NA PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. May be involved in pre-mRNA splicing. NA Belongs to the cyclophilin-type PPIase family. PPIL3 subfamily. mRNA Splicing - Major Pathway PE1 2 +NX_Q9H2H9 Sodium-coupled neutral amino acid transporter 1 487 54048 6.6 11 Cell membrane NA Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of glutamine and sodium ions with a stoichiometry of 1:1. May also transport small zwitterionic and aliphatic amino acids with a lower affinity. May supply glutamatergic and GABAergic neurons with glutamine which is required for the synthesis of the neurotransmitters glutamate and GABA. NA Belongs to the amino acid/polyamine transporter 2 family. Glutamatergic synapse;GABAergic synapse;Amino acid transport across the plasma membrane;Astrocytic Glutamate-Glutamine Uptake And Metabolism PE1 12 +NX_Q9H2I8 Leucine-rich melanocyte differentiation-associated protein 198 22568 6.23 0 Nucleoplasm;Cytosol Albinism, oculocutaneous, 7 Required for melanocyte differentiation. NA NA NA PE1 10 +NX_Q9H2J1 Uncharacterized protein ARRDC1-AS1 176 18048 7.75 0 NA NA NA NA NA NA PE1 9 +NX_Q9H2J4 Phosducin-like protein 3 239 27614 4.78 0 Cytoplasm;Endoplasmic reticulum;Nucleoplasm;Cytosol;Perinuclear region NA Acts as a chaperone for the angiogenic VEGF receptor KDR/VEGFR2, increasing its abundance by inhibiting its ubiquitination and degradation (PubMed:23792958, PubMed:26059764). Inhibits the folding activity of the chaperonin-containing T-complex (CCT) which leads to inhibition of cytoskeletal actin folding (PubMed:17429077). Acts as a chaperone during heat shock alongside HSP90 and HSP40/70 chaperone complexes (By similarity). Modulates the activation of caspases during apoptosis (PubMed:15371430). N-terminal methionine acetylation destabilizes the protein. Belongs to the phosducin family. NA PE1 2 +NX_Q9H2J7 Sodium-dependent neutral amino acid transporter B(0)AT2 730 81836 5.06 12 Membrane;Cytoplasmic vesicle;Nucleolus NA Functions as a sodium-dependent neutral amino acid transporter. Exhibits preference for the branched-chain amino acids, particularly leucine, valine and isoleucine and methionine. Mediates the saturable, pH-sensitive and electrogenic cotransport of proline and sodium ions with a stoichiometry of 1:1. May have a role as transporter for neurotransmitter precursors into neurons. In contrast to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent. NA Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A15 subfamily. Amino acid transport across the plasma membrane;Na+/Cl- dependent neurotransmitter transporters PE1 12 +NX_Q9H2K0 Translation initiation factor IF-3, mitochondrial 278 31725 9.7 0 Nucleoplasm;Mitochondrion NA IF-3 binds to the 28S ribosomal subunit and shifts the equilibrum between 55S ribosomes and their 39S and 28S subunits in favor of the free subunits, thus enhancing the availability of 28S subunits on which protein synthesis initiation begins. NA Belongs to the IF-3 family. Mitochondrial translation initiation PE1 13 +NX_Q9H2K2 Poly [ADP-ribose] polymerase tankyrase-2 1166 126918 6.76 0 Cytoplasm;Telomere;Golgi apparatus membrane;Nucleus;Cytoskeleton NA Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking (PubMed:11739745, PubMed:11802774, PubMed:19759537, PubMed:21478859, PubMed:23622245, PubMed:25043379). Acts as an activator of the Wnt signaling pathway by mediating poly-ADP-ribosylation of AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex: poly-ADP-ribosylated target proteins are recognized by RNF146, which mediates their ubiquitination and subsequent degradation (PubMed:19759537, PubMed:21478859). Also mediates poly-ADP-ribosylation of BLZF1 and CASC3, followed by recruitment of RNF146 and subsequent ubiquitination (PubMed:21478859). Mediates poly-ADP-ribosylation of TERF1, thereby contributing to the regulation of telomere length (PubMed:11739745). Stimulates 26S proteasome activity (PubMed:23622245). Ubiquitinated at 'Lys-48' and 'Lys-63' by RNF146 when auto-poly-ADP-ribosylated; this leads to degradation.;ADP-ribosylated (-auto). Poly-ADP-ribosylated protein is recognized by RNF146, followed by ubiquitination.;The crystallographic evidence suggests that the 3-hydroxyhistidine may be the (3S) stereoisomer. NA Degradation of AXIN;TCF dependent signaling in response to WNT;XAV939 inhibits tankyrase, stabilizing AXIN;Ub-specific processing proteases;Regulation of PTEN stability and activity PE1 10 +NX_Q9H2K8 Serine/threonine-protein kinase TAO3 898 105406 6.83 0 Cytoplasm;Mitochondrion;Cell membrane NA Serine/threonine-protein kinase that acts as a regulator of the p38/MAPK14 stress-activated MAPK cascade and of the MAPK8/JNK cascade. Acts as an activator of the p38/MAPK14 stress-activated MAPK cascade. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of upstream MAP2K3 and MAP2K6 kinases. Inhibits basal activity of MAPK8/JNK cascade and diminishes its activation in response epidermal growth factor (EGF). Autophosphorylated. Phosphorylation at Ser-324 by ATM following DNA damage is required for activation of the p38/MAPK14 stress-activated MAPK cascade. Phosphorylated by LRRK2.;TAOK3 is phosphorylated by LRRK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. MAPK signaling pathway PE1 12 +NX_Q9H2L4 Transmembrane protein 60 133 15500 9.62 4 Membrane NA NA NA NA NA PE2 7 +NX_Q9H2L5 Ras association domain-containing protein 4 321 36748 7.66 0 Nucleoplasm;Cell junction;Nucleolus NA Potential tumor suppressor. May act as a KRAS effector protein. May promote apoptosis and cell cycle arrest. NA NA NA PE1 10 +NX_Q9H2M3 S-methylmethionine--homocysteine S-methyltransferase BHMT2 363 40354 5.61 0 NA NA Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor. NA NA Amino-acid biosynthesis; L-methionine biosynthesis via de novo pathway; L-methionine from L-homocysteine (BhmT route): step 1/1.;Sulfur amino acid metabolism PE1 5 +NX_Q9H2M9 Rab3 GTPase-activating protein non-catalytic subunit 1393 155985 5.4 0 Cytoplasm;Cytosol;Cell membrane Martsolf syndrome;Warburg micro syndrome 2 Regulatory subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Rab3 GTPase-activating complex specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters. NA Belongs to the Rab3-GAP regulatory subunit family. COPI-independent Golgi-to-ER retrograde traffic;RAB GEFs exchange GTP for GDP on RABs PE1 1 +NX_Q9H2P0 Activity-dependent neuroprotector homeobox protein 1102 123563 6.97 0 Nucleoplasm;Nucleus Helsmoortel-van der Aa syndrome Potential transcription factor. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation. NA NA NA PE1 20 +NX_Q9H2P9 Diphthine methyl ester synthase 285 31651 5.19 0 Golgi apparatus NA S-adenosyl-L-methionine-dependent methyltransferase that catalyzes four methylations of the modified target histidine residue in translation elongation factor 2 (EF-2), to form an intermediate called diphthine methyl ester. The four successive methylation reactions represent the second step of diphthamide biosynthesis. NA Belongs to the diphthine synthase family. Protein modification; peptidyl-diphthamide biosynthesis.;Synthesis of diphthamide-EEF2 PE1 1 +NX_Q9H2R5 Kallikrein-15 256 28087 8.27 0 Secreted NA Protease whose physiological substrate is not yet known. NA Belongs to the peptidase S1 family. Kallikrein subfamily. NA PE1 19 +NX_Q9H2S1 Small conductance calcium-activated potassium channel protein 2 579 63760 9.58 6 Membrane;Nucleoplasm;Cytosol NA Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin. NA Belongs to the potassium channel KCNN family. KCa2.2/KCNN2 subfamily. Bile secretion;Ca2+ activated K+ channels PE1 5 +NX_Q9H2S5 RING finger protein 39 420 45525 8.69 0 Cytoplasmic vesicle;Cytoplasm;Centrosome;Cell membrane NA May play a role in prolonged long term-potentiation (LTP) maintenance. NA NA NA PE1 6 +NX_Q9H2S6 Tenomodulin 317 37130 5.12 1 Membrane;Cytoplasm;Nucleus envelope NA May be an angiogenesis inhibitor. NA Belongs to the chondromodulin-1 family. NA PE1 X +NX_Q9H2S9 Zinc finger protein Eos 585 64106 6.39 0 Nucleoplasm;Nucleus NA DNA-binding protein that binds to the 5'GGGAATRCC-3' Ikaros-binding sequence. Transcriptional repressor. Interacts with SPI1 and MITF to repress transcription of the CTSK and ACP5 promoters via recruitment of corepressors SIN3A and CTBP2. May be involved in the development of central and peripheral nervous systems. Essential for the inhibitory function of regulatory T-cells (Treg). Mediates FOXP3-mediated gene silencing in regulatory T-cells (Treg) via recruitment of corepressor CTBP1 (By similarity). NA Belongs to the Ikaros C2H2-type zinc-finger protein family. NA PE1 12 +NX_Q9H2T7 Ran-binding protein 17 1088 124375 6.02 0 Cytoplasm;Nuclear pore complex;Nucleus membrane;Cytosol;Nucleus NA May function as a nuclear transport receptor. NA Belongs to the exportin family. NA PE1 5 +NX_Q9H2U1 ATP-dependent DNA/RNA helicase DHX36 1008 114760 7.58 0 Cytoplasm;Stress granule;Mitochondrion;Nucleus speckle;Perikaryon;Nucleoplasm;Telomere;Cytosol;Axon;Dendrite;Nucleus NA Multifunctional ATP-dependent helicase that unwinds G-quadruplex (G4) structures (PubMed:16150737, PubMed:18854321, PubMed:20472641, PubMed:21586581). Plays a role in many biological processes such as genomic integrity, gene expression regulations and as a sensor to initiate antiviral responses (PubMed:14731398, PubMed:18279852, PubMed:21993297, PubMed:22238380, PubMed:25579584). G4 structures correspond to helical structures containing guanine tetrads (By similarity). Binds with high affinity to and unwinds G4 structures that are formed in nucleic acids (G4-ADN and G4-RNA) (PubMed:16150737, PubMed:18842585, PubMed:20472641, PubMed:21586581, PubMed:24369427, PubMed:26195789). Plays a role in genomic integrity (PubMed:22238380). Converts the G4-RNA structure present in telomerase RNA template component (TREC) into a double-stranded RNA to promote P1 helix formation that acts as a template boundary ensuring accurate reverse transcription (PubMed:20472641, PubMed:21149580, PubMed:21846770, PubMed:22238380, PubMed:24151078, PubMed:25579584). Plays a role in transcriptional regulation (PubMed:21586581, PubMed:21993297). Resolves G4-DNA structures in promoters of genes, such as YY1, KIT/c-kit and ALPL and positively regulates their expression (PubMed:21993297). Plays a role in post-transcriptional regulation (PubMed:27940037). Unwinds a G4-RNA structure located in the 3'-UTR polyadenylation site of the pre-mRNA TP53 and stimulates TP53 pre-mRNA 3'-end processing in response to ultraviolet (UV)-induced DNA damage (PubMed:27940037). Binds to the precursor-microRNA-134 (pre-miR-134) terminal loop and regulates its transport into the synapto-dendritic compartment (By similarity). Involved in the pre-miR-134-dependent inhibition of target gene expression and the control of dendritic spine size (By similarity). Plays a role in the regulation of cytoplasmic mRNA translation and mRNA stability (PubMed:24369427, PubMed:26489465). Binds to both G4-RNA structures and alternative non-quadruplex-forming sequence within the 3'-UTR of the PITX1 mRNA regulating negatively PITX1 protein expression (PubMed:24369427). Binds to both G4-RNA structure in the 5'-UTR and AU-rich elements (AREs) localized in the 3'-UTR of NKX2-5 mRNA to either stimulate protein translation or induce mRNA decay in an ELAVL1-dependent manner, respectively (PubMed:26489465). Binds also to ARE sequences present in several mRNAs mediating exosome-mediated 3'-5' mRNA degradation (PubMed:14731398, PubMed:18279852). Involved in cytoplasmic urokinase-type plasminogen activator (uPA) mRNA decay (PubMed:14731398). Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of proinflammatory cytokines via the adapter molecule TICAM1 (By similarity). Required for early embryonic development and hematopoiesis. Involved in the regulation of cardioblast differentiation and proliferation during heart development. Involved in spermatogonia differentiation. May play a role in ossification (By similarity). NA Belongs to the DEAD box helicase family. DEAH subfamily. RNA degradation;DEx/H-box helicases activate type I IFN and inflammatory cytokines production PE1 3 +NX_Q9H2U2 Inorganic pyrophosphatase 2, mitochondrial 334 37920 7.07 0 Nucleoplasm;Mitochondrion Sudden cardiac failure, alcohol-induced;Sudden cardiac failure, infantile Hydrolyzes inorganic pyrophosphate (PubMed:27523597). This activity is essential for correct regulation of mitochondrial membrane potential, and mitochondrial organization and function (PubMed:27523598). NA Belongs to the PPase family. Oxidative phosphorylation;Mitochondrial tRNA aminoacylation;Pyrophosphate hydrolysis PE1 4 +NX_Q9H2U6 Putative uncharacterized protein encoded by LINC00597 94 11474 7.64 0 NA NA NA NA NA NA PE5 15 +NX_Q9H2U9 Disintegrin and metalloproteinase domain-containing protein 7 754 85669 6.08 1 Membrane NA May play an important role in male reproduction including sperm maturation and gonadotrope function. This is a non catalytic metalloprotease-like protein (By similarity). NA NA NA PE1 8 +NX_Q9H2V7 Protein spinster homolog 1 528 56630 6.19 12 Golgi apparatus;Nucleolus;Endoplasmic reticulum;Endosome;Cytoplasmic vesicle;Cytosol;Mitochondrion inner membrane NA Sphingolipid transporter (By similarity). May be involved in necrotic or autophagic cell death. NA Belongs to the major facilitator superfamily. Spinster (TC 2.A.1.49) family. NA PE1 16 +NX_Q9H2W1 Membrane-spanning 4-domains subfamily A member 6A 248 26943 6.57 4 Membrane NA May be involved in signal transduction as a component of a multimeric receptor complex. NA Belongs to the MS4A family. NA PE1 11 +NX_Q9H2W2 Homeobox protein MIXL1 232 24659 9.04 0 Nucleoplasm;Nucleus NA Transcription factor that play a central role in proper axial mesendoderm morphogenesis and endoderm formation. Required for efficient differentiation of cells from the primitive streak stage to blood, by acting early in the recruitment and/or expansion of mesodermal progenitors to the hemangioblastic and hematopoietic lineages. Also involved in the morphogenesis of the heart and the gut during embryogenesis. Acts as a negative regulator of brachyury expression (By similarity). Phosphorylated at multiple sites. Belongs to the paired homeobox family. NA PE1 1 +NX_Q9H2W6 39S ribosomal protein L46, mitochondrial 279 31705 6.55 0 Nucleoplasm;Cell junction;Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mL46 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 15 +NX_Q9H2X0 Chordin 955 102032 8.07 0 Secreted NA Dorsalizing factor. Key developmental protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta family bone morphogenetic proteins (BMPs) and sequestering them in latent complexes (By similarity). Cleaved by tolloid proteases; cleavage participates in dorsoventral patterning during early development. Belongs to the chordin family. TGF-beta signaling pathway PE1 3 +NX_Q9H2X3 C-type lectin domain family 4 member M 399 45350 5.12 1 Secreted;Cell membrane NA Probable pathogen-recognition receptor involved in peripheral immune surveillance in liver. May mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. Is a receptor for ICAM3, probably by binding to mannose-like carbohydrates.;(Microbial infection) Acts as an attachment receptor for Ebolavirus.;(Microbial infection) Acts as an attachment receptor for HIV-1.;(Microbial infection) Acts as an attachment receptor for Human coronavirus 229E.;(Microbial infection) Acts as an attachment receptor for Human cytomegalovirus/HHV-5.;(Microbial infection) Recognition of M.bovis by dendritic cells may occur partially via this molecule.;(Microbial infection) Acts as an attachment receptor for Influenzavirus.;(Microbial infection) Acts as an attachment receptor for SARS coronavirus.;(Microbial infection) Acts as an attachment receptor for Hepatitis C virus.;(Microbial infection) Acts as an attachment receptor for Japanese encephalitis virus.;(Microbial infection) Acts as an attachment receptor for Marburg virus glycoprotein.;(Microbial infection) Acts as an attachment receptor for West-nile virus. NA NA Phagosome;Tuberculosis;Measles PE1 19 +NX_Q9H2X6 Homeodomain-interacting protein kinase 2 1198 130966 8.69 0 Nucleoplasm;Cytoplasm;PML body NA Serine/threonine-protein kinase involved in transcription regulation, p53/TP53-mediated cellular apoptosis and regulation of the cell cycle. Acts as a corepressor of several transcription factors, including SMAD1 and POU4F1/Brn3a and probably NK homeodomain transcription factors. Phosphorylates PDX1, ATF1, PML, p53/TP53, CREB1, CTBP1, CBX4, RUNX1, EP300, CTNNB1, HMGA1 and ZBTB4. Inhibits cell growth and promotes apoptosis through the activation of p53/TP53 both at the transcription level and at the protein level (by phosphorylation and indirect acetylation). The phosphorylation of p53/TP53 may be mediated by a p53/TP53-HIPK2-AXIN1 complex. Involved in the response to hypoxia by acting as a transcriptional co-suppressor of HIF1A. Mediates transcriptional activation of TP73. In response to TGFB, cooperates with DAXX to activate JNK. Negative regulator through phosphorylation and subsequent proteasomal degradation of CTNNB1 and the antiapoptotic factor CTBP1. In the Wnt/beta-catenin signaling pathway acts as an intermediate kinase between MAP3K7/TAK1 and NLK to promote the proteasomal degradation of MYB. Phosphorylates CBX4 upon DNA damage and promotes its E3 SUMO-protein ligase activity. Activates CREB1 and ATF1 transcription factors by phosphorylation in response to genotoxic stress. In response to DNA damage, stabilizes PML by phosphorylation. PML, HIPK2 and FBXO3 may act synergically to activate p53/TP53-dependent transactivation. Promotes angiogenesis, and is involved in erythroid differentiation, especially during fetal liver erythropoiesis. Phosphorylation of RUNX1 and EP300 stimulates EP300 transcription regulation activity. Triggers ZBTB4 protein degradation in response to DNA damage. Modulates HMGA1 DNA-binding affinity. In response to high glucose, triggers phosphorylation-mediated subnuclear localization shifting of PDX1. Involved in the regulation of eye size, lens formation and retinal lamination during late embryogenesis. Autophosphorylation at Tyr-361 in the activation loop activates the kinase and promotes nuclear localization.;Sumoylated. When conjugated it is directed to nuclear speckles. Desumoylated by SENP1 (By similarity). Sumoylation on Lys-32 is promoted by the E3 SUMO-protein ligase CBX4.;Ubiquitinated by FBXO3, WSB1 and SIAH1, leading to rapid proteasome-dependent degradation. The degradation mediated by FBXO3, but not ubiquitination, is prevented in the presence of PML. The degradation mediated by WSB1 and SIAH1 is reversibly reduced upon DNA damage.;Cleaved at Asp-923 and Asp-984 by CASP6 in a p53/TP53-dependent manner. The cleaved form lacks the autoinhibitory C-terminal domain (AID), resulting in a hyperactive kinase, which potentiates p53/TP53 Ser-46 phosphorylation and subsequent activation of the cell death machinery.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);HIPK2 is phosphorylated by MAP3K7 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. HIPK subfamily. YAP1- and WWTR1 (TAZ)-stimulated gene expression;Physiological factors;Regulation of TP53 Activity through Phosphorylation;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known;SUMOylation of transcription cofactors;Regulation of MECP2 expression and activity PE1 7 +NX_Q9H2X8 Interferon alpha-inducible protein 27-like protein 2 130 12410 5.36 3 Mitochondrion membrane;Cytosol;Nucleolus NA Plays a role in the apoptotic process and has a pro-apoptotic activity. NA Belongs to the IFI6/IFI27 family. NA PE1 14 +NX_Q9H2X9 Solute carrier family 12 member 5 1139 126184 6.29 12 Membrane Epilepsy, idiopathic generalized 14;Epileptic encephalopathy, early infantile, 34 Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation (PubMed:24668262). NA Belongs to the SLC12A transporter family. GABAergic synapse;Cation-coupled Chloride cotransporters PE1 20 +NX_Q9H2Y7 Zinc finger protein 106 1883 208883 6.73 0 Nucleoplasm;Cytosol;Nucleus speckle;Nucleolus NA RNA-binding protein. Specifically binds to 5'-GGGGCC-3' sequence repeats in RNA. Essential for maintenance of peripheral motor neuron and skeletal muscle function. Required for normal expression and/or alternative splicing of a number of genes in spinal cord and skeletal muscle, including the neurite outgrowth inhibitor RTN4. Also contributes to normal mitochondrial respiratory function in motor neurons, via an unknown mechanism. Phosphorylated by FYN in vitro. NA NA PE1 15 +NX_Q9H2Y9 Solute carrier organic anion transporter family member 5A1 848 91864 7.96 12 Cytoplasmic vesicle;Cell membrane NA NA NA Belongs to the organo anion transporter (TC 2.A.60) family. NA PE2 8 +NX_Q9H2Z4 Homeobox protein Nkx-2.4 354 36179 9.6 0 Nucleus NA Probable transcription factor. NA Belongs to the NK-2 homeobox family. NA PE1 20 +NX_Q9H300 Presenilins-associated rhomboid-like protein, mitochondrial 379 42190 9.82 7 Mitochondrion inner membrane;Mitochondrion;Nucleus NA Required for the control of apoptosis during postnatal growth. Essential for proteolytic processing of an antiapoptotic form of OPA1 which prevents the release of mitochondrial cytochrome c in response to intrinsic apoptotic signals (By similarity). Promotes changes in mitochondria morphology regulated by phosphorylation of P-beta domain. P-beta is proteolytically processed (beta-cleavage) in a PARL-dependent manner. The cleavage is inhibited when residues Ser-65, Thr-69 and Ser-70 are all phosphorylated. Belongs to the peptidase S54 family. Processing of SMDT1 PE1 3 +NX_Q9H305 Cell death-inducing p53-target protein 1 208 21892 5.55 0 Nucleoplasm;Lysosome membrane;Centrosome;Late endosome membrane NA Acts as an important p53/TP53-apoptotic effector. Regulates TNF-alpha-mediated apoptosis in a p53/TP53-dependent manner. NA Belongs to the CDIP1/LITAF family. NA PE1 16 +NX_Q9H306 Matrix metalloproteinase-27 513 59026 8.83 0 Endoplasmic reticulum membrane NA Matrix metalloproteinases degrade protein components of the extracellular matrix such as fibronectin, laminin, gelatins and/or collagens. N-glycosylated. Belongs to the peptidase M10A family. NA PE1 11 +NX_Q9H307 Pinin 717 81628 6.71 0 Nucleus speckle;Desmosome NA Transcriptional activator binding to the E-box 1 core sequence of the E-cadherin promoter gene; the core-binding sequence is 5'CAGGTG-3'. Capable of reversing CTBP1-mediated transcription repression. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Participates in the regulation of alternative pre-mRNA splicing. Associates to spliced mRNA within 60 nt upstream of the 5'-splice sites. Component of the PSAP complex which binds RNA in a sequence-independent manner and is proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets. Involved in the establishment and maintenance of epithelia cell-cell adhesion. Potential tumor suppressor for renal cell carcinoma. NA Belongs to the pinin family. RNA transport;mRNA surveillance pathway PE1 14 +NX_Q9H310 Ammonium transporter Rh type B 441 47231 8.74 12 Basolateral cell membrane;Nucleoplasm;Cytoplasmic vesicle membrane NA Functions as a specific ammonium transporter. N-glycosylated. Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily. Rhesus glycoproteins mediate ammonium transport PE1 1 +NX_Q9H313 Protein tweety homolog 1 450 49051 4.88 5 Cell membrane NA May be a Ca(2+)-independent and swelling-activated chloride channel, possibly involved in regulation of cell volume.;Probable chloride channel. May be involved in cell adhesion (By similarity). NA Belongs to the tweety family. Stimuli-sensing channels PE1 19 +NX_Q9H320 Variable charge X-linked protein 1 206 22289 4.37 0 NA NA May mediate a process in spermatogenesis or may play a role in sex ratio distortion. NA Belongs to the VCX/VCY family. NA PE2 X +NX_Q9H321 Variable charge X-linked protein 3B 246 26878 4.2 0 NA NA May mediate a process in spermatogenesis or may play a role in sex ratio distortion. NA Belongs to the VCX/VCY family. NA PE2 X +NX_Q9H322 Variable charge X-linked protein 2 139 14661 6.18 0 NA NA May mediate a process in spermatogenesis or may play a role in sex ratio distortion. NA Belongs to the VCX/VCY family. NA PE2 X +NX_Q9H324 A disintegrin and metalloproteinase with thrombospondin motifs 10 1103 120874 8.34 0 Extracellular matrix Weill-Marchesani syndrome 1 Metalloprotease that participate in microfibrils assembly. Microfibrils are extracellular matrix components occurring independently or along with elastin in the formation of elastic tissues. Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity). NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 19 +NX_Q9H329 Band 4.1-like protein 4B 900 99712 9.17 0 Cytoplasm;Cytosol;Tight junction;Cell membrane NA Up-regulates the activity of the Rho guanine nucleotide exchange factor ARHGEF18 (By similarity). Involved in the regulation of the circumferential actomyosin belt in epithelial cells (PubMed:22006950). Promotes cellular adhesion, migration and motility in vitro and may play a role in wound healing (PubMed:23664528). May have a role in mediating cytoskeletal changes associated with steroid-induced cell differentiation (PubMed:14521927). May be negatively regulated by phosphorylation. NA NA PE1 9 +NX_Q9H330 Transmembrane protein 245 879 97357 9.04 14 Membrane;Cytosol;Cell membrane NA NA NA Belongs to the autoinducer-2 exporter (AI-2E) (TC 2.A.86) family. NA PE1 9 +NX_Q9H334 Forkhead box protein P1 677 75317 6.2 0 Nucleoplasm;Nucleus Mental retardation with language impairment and autistic features Involved in transcriptional regulation in embryonic stem cells (ESCs). Stimulates expression of transcription factors that are required for pluripotency and decreases expression of differentiation-associated genes. Has distinct DNA-binding specifities as compared to the canonical form and preferentially binds DNA with the sequence 5'-CGATACAA-3' (or closely related sequences) (PubMed:21924763). Promotes ESC self-renewal and pluripotency (By similarity).;Transcriptional repressor (PubMed:18347093, PubMed:26647308). Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential (By similarity). Plays an important role in the specification and differentiation of lung epithelium. Acts cooperatively with FOXP4 to regulate lung secretory epithelial cell fate and regeneration by restricting the goblet cell lineage program; the function may involve regulation of AGR2. Essential transcriptional regulator of B-cell development. Involved in regulation of cardiac muscle cell proliferation. Involved in the columnar organization of spinal motor neurons. Promotes the formation of the lateral motor neuron column (LMC) and the preganglionic motor column (PGC) and is required for respective appropriate motor axon projections. The segment-appropriate generation of spinal chord motor columns requires cooperation with other Hox proteins. Can regulate PITX3 promoter activity; may promote midbrain identity in embryonic stem cell-derived dopamine neurons by regulating PITX3. Negatively regulates the differentiation of T follicular helper cells T(FH)s. Involved in maintenance of hair follicle stem cell quiescence; the function probably involves regulation of FGF18 (By similarity). Represses transcription of various pro-apoptotic genes and cooperates with NF-kappa B-signaling in promoting B-cell expansion by inhibition of caspase-dependent apoptosis (PubMed:25267198). Binds to CSF1R promoter elements and is involved in regulation of monocyte differentiation and macrophage functions; repression of CSF1R in monocytes seems to involve NCOR2 as corepressor (PubMed:15286807, PubMed:18799727, PubMed:18347093). Involved in endothelial cell proliferation, tube formation and migration indicative for a role in angiogenesis; the role in neovascularization seems to implicate suppression of SEMA5B (PubMed:24023716). Can negatively regulate androgen receptor signaling (PubMed:18640093). NA NA Transcriptional regulation of pluripotent stem cells PE1 3 +NX_Q9H336 Cysteine-rich secretory protein LCCL domain-containing 1 500 56888 8.47 0 Secreted NA NA NA Belongs to the CRISP family. NA PE1 8 +NX_Q9H339 Olfactory receptor 51B5 312 35241 8.59 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q9H340 Olfactory receptor 51B6 312 35269 9.26 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 11 +NX_Q9H341 Olfactory receptor 51M1 326 36669 9.1 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 11 +NX_Q9H342 Olfactory receptor 51J1 316 34838 8.5 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory Signaling Pathway PE3 11 +NX_Q9H343 Olfactory receptor 51I1 314 35484 9.22 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q9H344 Olfactory receptor 51I2 312 35002 8.98 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q9H346 Olfactory receptor 52D1 318 35122 8.57 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q9H347 Ubiquilin-3 655 70841 5.01 0 NA NA NA NA NA Protein processing in endoplasmic reticulum PE1 11 +NX_Q9H354 Putative uncharacterized protein PRO1933 126 14747 10.34 1 Membrane NA NA NA NA NA PE5 10 +NX_Q9H361 Polyadenylate-binding protein 3 631 70031 9.68 0 Cytoplasm NA Binds the poly(A) tail of mRNA. May be involved in cytoplasmic regulatory processes of mRNA metabolism. Binds poly(A) with a slightly lower affinity as compared to PABPC1. NA Belongs to the polyadenylate-binding protein type-1 family. RNA transport;mRNA surveillance pathway;RNA degradation PE1 13 +NX_Q9H379 Putative uncharacterized protein PRO3102 93 10324 7.47 0 NA NA NA NA NA NA PE5 9 +NX_Q9H3C7 Gametogenetin-binding protein 2 697 79086 5.97 0 Endoplasmic reticulum;Cytoplasmic vesicle NA May be involved in spermatogenesis. NA NA NA PE1 17 +NX_Q9H3D4 Tumor protein 63 680 76785 6.12 0 Nucleoplasm;Nucleus Ankyloblepharon-ectodermal defects-cleft lip/palate;Acro-dermato-ungual-lacrimal-tooth syndrome;Orofacial cleft 8;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3;Rapp-Hodgkin syndrome;Limb-mammary syndrome;Split-hand/foot malformation 4 Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity.;Activates RIPK4 transcription. May be required in conjunction with TP73/p73 for initiation of p53/TP53 dependent apoptosis in response to genotoxic insults and the presence of activated oncogenes. Involved in Notch signaling by probably inducing JAG1 and JAG2. Plays a role in the regulation of epithelial morphogenesis. The ratio of DeltaN-type and TA*-type isoforms may govern the maintenance of epithelial stem cell compartments and regulate the initiation of epithelial stratification from the undifferentiated embryonal ectoderm. Required for limb formation from the apical ectodermal ridge. Activates transcription of the p21 promoter. Ubiquitinated. Polyubiquitination involves WWP1 and leads to proteasomal degradation of this protein.;May be sumoylated. Belongs to the p53 family. TP53 Regulates Metabolic Genes;Activation of PUMA and translocation to mitochondria;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;TP53 Regulates Transcription of Death Receptors and Ligands;TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain;TP53 Regulates Transcription of Caspase Activators and Caspases;Regulation of TP53 Activity through Association with Co-factors PE1 3 +NX_Q9H3E2 Sorting nexin-25 840 97945 5.99 0 Cytoplasmic vesicle;Endosome membrane NA May be involved in several stages of intracellular trafficking. NA Belongs to the sorting nexin family. NA PE1 4 +NX_Q9H3F6 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 313 35432 5.97 0 Nucleoplasm;Cytosol;Nucleus NA Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. The BCR(BACURD3) E3 ubiquitin ligase complex mediates the ubiquitination of target proteins, leading to their degradation by the proteasome (By similarity). NA Belongs to the BACURD family. Protein modification; protein ubiquitination. PE1 12 +NX_Q9H3G5 Probable serine carboxypeptidase CPVL 476 54164 5.39 0 Endoplasmic reticulum NA May be involved in the digestion of phagocytosed particles in the lysosome, participation in an inflammatory protease cascade, and trimming of peptides for antigen presentation. NA Belongs to the peptidase S10 family. NA PE1 7 +NX_Q9H3H1 tRNA dimethylallyltransferase 467 52725 8.35 0 Nucleoplasm;Cytoplasm;Cytosol;Mitochondrion Combined oxidative phosphorylation deficiency 35 Catalyzes the transfer of a dimethylallyl group onto the adenine at position 37 of both cytosolic and mitochondrial tRNAs, leading to the formation of N6-(dimethylallyl)adenosine (i(6)A). NA Belongs to the IPP transferase family. Metabolic pathways;tRNA modification in the nucleus and cytosol;tRNA modification in the mitochondrion PE1 1 +NX_Q9H3H3 UPF0696 protein C11orf68 292 31430 5.92 0 Nucleoplasm;Nucleolus NA NA NA Belongs to the UPF0696 family. NA PE1 11 +NX_Q9H3H5 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 408 46090 8.25 10 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1J;Myasthenic syndrome, congenital, 13 Catalyzes the initial step of dolichol-linked oligosaccharide biosynthesis in N-linked protein glycosylation pathway: transfers GlcNAc-1-P from UDP-GlcNAc onto the carrier lipid dolichyl phosphate (P-dolichol), yielding GlcNAc-P-P-dolichol. NA Belongs to the glycosyltransferase 4 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein;Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2 PE1 11 +NX_Q9H3H9 Transcription elongation factor A protein-like 2 227 25850 5.79 0 Cytosol;Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the TFS-II family. TFA subfamily. NA PE1 X +NX_Q9H3J6 Probable peptide chain release factor C12orf65, mitochondrial 166 18828 9.82 0 Nucleoplasm;Cytosol;Mitochondrion Spastic paraplegia 55, autosomal recessive;Combined oxidative phosphorylation deficiency 7 May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion. May help rescuing stalled mitoribosomes during translation (By similarity). NA Belongs to the prokaryotic/mitochondrial release factor family. NA PE1 12 +NX_Q9H3K2 Growth hormone-inducible transmembrane protein 345 37205 9.95 7 Mitochondrion inner membrane;Mitochondrion NA Required for the mitochondrial tubular network and cristae organization. Involved in apoptotic release of cytochrome c. NA Belongs to the BI1 family. NA PE1 10 +NX_Q9H3K6 BolA-like protein 2 86 10117 6.07 0 Cytoplasm;Nucleus NA Acts as a cytosolic iron-sulfur (Fe-S) cluster assembly factor that facilitates [2Fe-2S] cluster insertion into a subset of cytosolic proteins (PubMed:26613676, PubMed:27519415). Acts together with the monothiol glutaredoxin GLRX3 (PubMed:26613676, PubMed:27519415). NA Belongs to the BolA/IbaG family. Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation PE1 16 +NX_Q9H3L0 Methylmalonic aciduria and homocystinuria type D protein, mitochondrial 296 32940 5.16 0 Cytoplasm;Mitochondrion Methylmalonic aciduria and homocystinuria, cblD type Involved in cobalamin metabolism (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis of two coenzymes, methylcobalamin and adenosylcobalamin (PubMed:18385497, PubMed:24722857). Plays a role in regulating the proportion of methylcobalamin and adenosylcobalamin (PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851). NA NA Cobalamin (Cbl, vitamin B12) transport and metabolism;Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD PE1 2 +NX_Q9H3M0 Potassium voltage-gated channel subfamily F member 1 494 55584 5.9 6 Membrane;Golgi apparatus NA Putative voltage-gated potassium channel. NA Belongs to the potassium channel family. F (TC 1.A.1.2) subfamily. Kv5.1/KCNF1 sub-subfamily. Voltage gated Potassium channels PE1 2 +NX_Q9H3M7 Thioredoxin-interacting protein 391 43661 7.46 0 Cytoplasm;Cytosol;Cell membrane NA May act as an oxidative stress mediator by inhibiting thioredoxin activity or by limiting its bioavailability. Interacts with COPS5 and restores COPS5-induced suppression of CDKN1B stability, blocking the COPS5-mediated translocation of CDKN1B from the nucleus to the cytoplasm. Functions as a transcriptional repressor, possibly by acting as a bridge molecule between transcription factors and corepressor complexes, and over-expression will induce G0/G1 cell cycle arrest. Required for the maturation of natural killer cells. Acts as a suppressor of tumor cell growth. Inhibits the proteasomal degradation of DDIT4, and thereby contributes to the inhibition of the mammalian target of rapamycin complex 1 (mTORC1). Ubiquitinated; undergoes polyubiquitination catalyzed by ITCH resulting in proteasomal degradation. Belongs to the arrestin family. The NLRP3 inflammasome;Regulation of FOXO transcriptional activity by acetylation PE1 1 +NX_Q9H3M9 Ataxin-3-like protein 355 40747 4.87 0 Nucleus NA Deubiquitinating enzyme that cleaves both 'Lys-48'-linked and 'Lys-63'-linked poly-ubiquitin chains (in vitro). NA NA Protein processing in endoplasmic reticulum;Josephin domain DUBs PE1 X +NX_Q9H3N1 Thioredoxin-related transmembrane protein 1 280 31791 4.91 1 Membrane;Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleolus NA May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions. NA NA NA PE1 14 +NX_Q9H3N8 Histamine H4 receptor 390 44496 9.62 7 Cell membrane NA The H4 subclass of histamine receptors could mediate the histamine signals in peripheral tissues. Displays a significant level of constitutive activity (spontaneous activity in the absence of agonist). NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Histamine receptors PE1 18 +NX_Q9H3P2 Negative elongation factor A 528 57277 9.1 0 Nucleoplasm;Nucleus NA (Microbial infection) The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II.;Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex. NA Belongs to the NELF-A family. Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;TP53 Regulates Transcription of DNA Repair Genes PE1 4 +NX_Q9H3P7 Golgi resident protein GCP60 528 60593 5.02 0 Golgi apparatus;Mitochondrion;Golgi apparatus membrane NA Involved in the maintenance of Golgi structure by interacting with giantin, affecting protein transport between the endoplasmic reticulum and Golgi (PubMed:11590181). Involved in hormone-induced steroid biosynthesis in testicular Leydig cells (By similarity). Recruits PI4KB to the Golgi apparatus membrane; enhances the enzyme activity of PI4KB activity via its membrane recruitment thereby increasing the local concentration of the substrate in the vicinity of the kinase (PubMed:27009356).;(Microbial infection) Plays an essential role in Aichi virus RNA replication by recruiting PI4KB at the viral replication sites. NA NA Golgi Associated Vesicle Biogenesis PE1 1 +NX_Q9H3Q1 Cdc42 effector protein 4 356 37980 5.05 0 Endomembrane system;Cell membrane;Cytoskeleton NA Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation, when overexpressed in fibroblasts. CDC42EP4 is phosphorylated by MAPK3 Belongs to the BORG/CEP family. NA PE1 17 +NX_Q9H3Q3 Galactose-3-O-sulfotransferase 2 398 46110 10.03 1 Golgi stack membrane NA Transfers a sulfate group to the hydroxyl group at C3 of non-reducing beta-galactosyl residues. Acts both on type 1 (Gal-beta-1,3-GlcNAc) and type 2 (Gal-beta-1,4-GlcNAc) chains with similar efficiency. NA Belongs to the galactose-3-O-sulfotransferase family. Protein modification; carbohydrate sulfation. PE1 2 +NX_Q9H3R0 Lysine-specific demethylase 4C 1056 119982 6.06 0 Nucleoplasm;Nucleus NA Histone demethylase that specifically demethylates 'Lys-9' and 'Lys-36' residues of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27' nor H4 'Lys-20'. Demethylates trimethylated H3 'Lys-9' and H3 'Lys-36' residue, while it has no activity on mono- and dimethylated residues. Demethylation of Lys residue generates formaldehyde and succinate. NA Belongs to the JHDM3 histone demethylase family. Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3;HDMs demethylate histones PE1 9 +NX_Q9H3R1 Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4 872 100716 7.19 1 Golgi apparatus membrane NA Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Has low deacetylase activity but high sulfotransferase activity (By similarity). NA Belongs to the sulfotransferase 1 family. NDST subfamily. Glycan metabolism; heparin biosynthesis.;Glycan metabolism; heparan sulfate biosynthesis.;Glycosaminoglycan biosynthesis - heparan sulfate;Metabolic pathways;HS-GAG biosynthesis PE1 4 +NX_Q9H3R2 Mucin-13 512 54604 4.91 1 Apical cell membrane;Secreted;Cell membrane NA Epithelial and hemopoietic transmembrane mucin that may play a role in cell signaling. Cleaved into two subunits, alpha and beta, probably between the first EGF domain and the SEA domain. Beta subunit contains the cytoplasmic tail and alpha subunit the extracellular tail. The homooligomerization into dimers is dependent on intrachain disulfide bonds.;Highly N-glycosylated. NA O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1) PE1 3 +NX_Q9H3R5 Centromere protein H 247 28481 5.23 0 Kinetochore;Nucleoplasm;Nucleolus;Nucleus NA Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Required for chromosome congression and efficiently align the chromosomes on a metaphase plate. NA Belongs to the CENP-H/MCM16 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Deposition of new CENPA-containing nucleosomes at the centromere;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 5 +NX_Q9H3S1 Semaphorin-4A 761 83574 6.38 1 Cell membrane Cone-rod dystrophy 10;Retinitis pigmentosa 35 Cell surface receptor for PLXNB1, PLXNB2, PLXNB3 and PLXND1 that plays an important role in cell-cell signaling (By similarity). Regulates glutamatergic and GABAergic synapse development (By similarity). Promotes the development of inhibitory synapses in a PLXNB1-dependent manner and promotes the development of excitatory synapses in a PLXNB2-dependent manner (By similarity). Plays a role in priming antigen-specific T-cells, promotes differentiation of Th1 T-helper cells, and thereby contributes to adaptive immunity (By similarity). Promotes phosphorylation of TIMD2 (By similarity). Inhibits angiogenesis (By similarity). Promotes axon growth cone collapse (By similarity). Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons (By similarity). NA Belongs to the semaphorin family. Axon guidance;Other semaphorin interactions PE1 1 +NX_Q9H3S3 Transmembrane protease serine 5 457 49560 6.24 1 Nucleoplasm;Cell membrane NA May play a role in hearing. NA Belongs to the peptidase S1 family. NA PE1 11 +NX_Q9H3S4 Thiamin pyrophosphokinase 1 243 27265 5.03 0 Cytoplasmic vesicle Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate. NA Belongs to the thiamine pyrophosphokinase family. Cofactor biosynthesis; thiamine diphosphate biosynthesis; thiamine diphosphate from thiamine: step 1/1.;Thiamine metabolism;Metabolic pathways;Vitamin B1 (thiamin) metabolism PE1 7 +NX_Q9H3S5 GPI mannosyltransferase 1 423 49460 9.26 10 Endoplasmic reticulum membrane Glycosylphosphatidylinositol deficiency Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the first alpha-1,4-mannose to GlcN-acyl-PI during GPI precursor assembly. NA Belongs to the PIGM family. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Synthesis of glycosylphosphatidylinositol (GPI) PE1 1 +NX_Q9H3S7 Tyrosine-protein phosphatase non-receptor type 23 1636 178974 6.45 0 Cytoplasm;Early endosome;Cilium basal body;Nucleoplasm;Endosome;Cytoplasmic vesicle;Nucleus NA Plays a role in sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs) via its interaction with the ESCRT-I complex (endosomal sorting complex required for transport I), and possibly also other ESCRT complexes (PubMed:18434552, PubMed:21757351). May act as a negative regulator of Ras-mediated mitogenic activity (PubMed:18434552). Plays a role in ciliogenesis (PubMed:20393563). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily. Interleukin-37 signaling PE1 3 +NX_Q9H3T2 Semaphorin-6C 930 99686 8.36 1 Nucleoplasm;Cytosol;Nucleolus;Cell membrane NA Shows growth cone collapsing activity on dorsal root ganglion (DRG) neurons in vitro. May be a stop signal for the DRG neurons in their target areas, and possibly also for other neurons. May also be involved in the maintenance and remodeling of neuronal connections. NA Belongs to the semaphorin family. Axon guidance PE1 1 +NX_Q9H3T3 Semaphorin-6B 888 95285 8.83 1 Cell membrane NA May play a role in both peripheral and central nervous system development. NA Belongs to the semaphorin family. Axon guidance PE1 19 +NX_Q9H3U1 Protein unc-45 homolog A 944 103077 5.8 0 Cytoplasm;Nucleus speckle;Cytosol;Perinuclear region;Nucleus NA Acts as co-chaperone for HSP90. Prevents the stimulation of HSP90AB1 ATPase activity by AHSA1. Positive factor in promoting PGR function in the cell. May be necessary for proper folding of myosin (Potential). Necessary for normal cell proliferation. Necessary for normal myotube formation and myosin accumulation during muscle cell development. May play a role in erythropoiesis in stroma cells in the spleen (By similarity). NA NA NA PE1 15 +NX_Q9H3U5 Major facilitator superfamily domain-containing protein 1 465 51209 6.32 11 Membrane;Endoplasmic reticulum;Nucleoplasm;Nucleolus NA NA NA Belongs to the major facilitator superfamily. NA PE1 3 +NX_Q9H3U7 SPARC-related modular calcium-binding protein 2 446 49674 8.8 0 Basement membrane Dentin dysplasia 1 Promotes matrix assembly and cell adhesiveness (By similarity). Can stimulate endothelial cell proliferation, migration, as well as angiogenesis. NA NA NA PE1 6 +NX_Q9H3V2 Membrane-spanning 4-domains subfamily A member 5 200 22283 6.27 4 Membrane NA May be involved in signal transduction as a component of a multimeric receptor complex. NA Belongs to the MS4A family. NA PE2 11 +NX_Q9H3W5 Leucine-rich repeat neuronal protein 3 708 79424 8.02 1 Membrane;Nucleoplasm;Cytosol NA NA NA NA NA PE1 7 +NX_Q9H3Y0 Peptidase inhibitor R3HDML 253 28605 9.25 0 Secreted NA Putative serine protease inhibitor. NA Belongs to the CRISP family. NA PE2 20 +NX_Q9H3Y6 Tyrosine-protein kinase Srms 488 54507 8.51 0 Cytoplasm;Cytosol;Cytoskeleton NA Non-receptor tyrosine-protein kinase which phosphorylates DOK1 on tyrosine residues (PubMed:23822091). Also phosphorylates KHDRBS1/SAM68 and VIM on tyrosine residues (PubMed:29496907). Phosphorylation of KHDRBS1 is EGF-dependent (PubMed:29496907). NA Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily. PTK6 Down-Regulation PE1 20 +NX_Q9H3Y8 Pancreatic progenitor cell differentiation and proliferation factor 114 11777 6.89 0 Nucleoplasm;Nucleolus;Cytoskeleton NA Probable regulator of exocrine pancreas development. NA Belongs to the PPDPF family. NA PE1 20 +NX_Q9H3Z4 DnaJ homolog subfamily C member 5 198 22149 4.93 0 Membrane;Golgi apparatus;Melanosome;Cell membrane Ceroid lipofuscinosis, neuronal, 4B Acts as a general chaperone in regulated exocytosis (By similarity). Acts as a co-chaperone for the SNARE protein SNAP-25 (By similarity). Involved in the calcium-mediated control of a late stage of exocytosis (By similarity). May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity). Ser-10 phosphorylation induces an order-to-disorder transition triggering the interaction with Lys-58 (PubMed:27452402). This conformational switch modulates DNAJC5's cellular functions by reducing binding to syntaxin and synaptogamin without altering HSC70 interactions (PubMed:27452402).;Fatty acylated (By similarity). Heavily palmitoylated in the cysteine string motif (By similarity).;DNAJC5 is phosphorylated by PRKACA NA Protein processing in endoplasmic reticulum;GABA synthesis, release, reuptake and degradation;Neutrophil degranulation PE1 20 +NX_Q9H3Z7 Protein ABHD16B 469 52555 8.9 0 Nucleoplasm NA NA NA Belongs to the AB hydrolase superfamily. ABHD16 family. NA PE1 20 +NX_Q9H400 Lck-interacting transmembrane adapter 1 295 31288 9.7 1 Cell membrane NA Involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and TCR (T-cell antigen receptor)-mediated T-cell signaling in T-cells. In absence of TCR signaling, may be involved in CD4-mediated inhibition of T-cell activation. Couples activation of these receptors and their associated kinases with distal intracellular events such as calcium mobilization or MAPK activation through the recruitment of PLCG2, GRB2, GRAP2, and other signaling molecules. Phosphorylated on tyrosines upon TCR activation and/or CD4 coreceptor stimulation, or upon BCR stimulation; which leads to the recruitment of SH2-containing proteins.;Palmitoylation of Cys-28 and Cys-31 is required for raft targeting.;LIME1 is phosphorylated by LYN (Phosphotyrosine:PTM-0255) NA NA PE1 20 +NX_Q9H410 Kinetochore-associated protein DSN1 homolog 356 40067 6.57 0 Nucleolus;Nucleoplasm;Cytosol;Nucleus;Kinetochore NA Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis. NA NA Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Neutrophil degranulation PE1 20 +NX_Q9H422 Homeodomain-interacting protein kinase 3 1215 133743 7.16 0 Cytoplasm;Cytosol;Nucleus NA Serine/threonine-protein kinase involved in transcription regulation, apoptosis and steroidogenic gene expression. Phosphorylates JUN and RUNX2. Seems to negatively regulate apoptosis by promoting FADD phosphorylation. Enhances androgen receptor-mediated transcription. May act as a transcriptional corepressor for NK homeodomain transcription factors. The phosphorylation of NR5A1 activates SF1 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation. In osteoblasts, supports transcription activation: phosphorylates RUNX2 that synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE). May be sumoylated.;Autophosphorylated, but autophosphorylation is not required for catalytic activity.;Autophosphorylated Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. HIPK subfamily. NA PE1 11 +NX_Q9H425 Uncharacterized protein C1orf198 327 36346 5.6 0 Cytoplasm;Cytosol NA NA NA NA NA PE1 1 +NX_Q9H426 Regulating synaptic membrane exocytosis protein 4 269 29329 5.65 0 Nucleoplasm;Synapse NA Regulates synaptic membrane exocytosis. NA NA NA PE1 20 +NX_Q9H427 Potassium channel subfamily K member 15 330 36130 9.89 4 Membrane NA Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to associate with another protein to form a functional channel. NA Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. Phase 4 - resting membrane potential PE1 20 +NX_Q9H444 Charged multivesicular body protein 4b 224 24950 4.76 0 Cytosol;Nucleus envelope;Midbody;Late endosome membrane Cataract 31, multiple types (Microbial infection) The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the budding of enveloped viruses (HIV-1 and other lentiviruses). Via its interaction with PDCD6IP involved in HIV-1 p6- and p9-dependent virus release.;Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released (PubMed:12860994, PubMed:18209100). The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis (PubMed:21310966). Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). Plays a role in the endosomal sorting pathway. ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. When overexpressed, membrane-assembled circular arrays of CHMP4B filaments can promote or stabilize negative curvature and outward budding. CHMP4A/B/C are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). ISGylated. Isgylation weakens its interaction with VPS4A. Belongs to the SNF7 family. Endocytosis;Macroautophagy;Budding and maturation of HIV virion;Endosomal Sorting Complex Required For Transport (ESCRT);Microautophagy PE1 20 +NX_Q9H446 RWD domain-containing protein 1 243 27940 4.11 0 NA NA Protects DRG2 from proteolytic degradation. NA Belongs to the RWDD1/GIR2 family. NA PE1 6 +NX_Q9H461 Frizzled-8 694 73300 8.58 7 Membrane;Golgi apparatus;Endoplasmic reticulum;Cell membrane NA Receptor for Wnt proteins. Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalosomes. The beta-catenin canonical signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Coreceptor along with RYK of Wnt proteins, such as WNT1. Ubiquitinated by ZNRF3, leading to its degradation by the proteasome. Belongs to the G-protein coupled receptor Fz/Smo family. Wnt signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;Asymmetric localization of PCP proteins;Class B/2 (Secretin family receptors);Regulation of FZD by ubiquitination;RNF mutants show enhanced WNT signaling and proliferation PE1 10 +NX_Q9H467 CUE domain-containing protein 2 287 32009 4.74 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Down-regulates ESR1 protein levels through the ubiquitination-proteasome pathway, regardless of the presence of 17 beta-estradiol. Also involved in 17 beta-estradiol-induced ESR1 degradation. Controls PGR protein levels through a similar mechanism. NA Belongs to the CUEDC2 family. NA PE1 10 +NX_Q9H469 F-box/LRR-repeat protein 15 300 32998 7.13 0 Cytoplasm NA Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of SMURF1, thereby acting as a positive regulator of the BMP signaling pathway. Required for dorsal/ventral pattern formation and bone mass maintenance. Also mediates ubiquitination of SMURF2 and WWP2. NA Belongs to the FBXL15 family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 10 +NX_Q9H477 Ribokinase 322 34143 4.94 0 Cytoplasm;Cytosol;Nucleus NA Catalyzes the phosphorylation of ribose at O-5 in a reaction requiring ATP and magnesium. The resulting D-ribose-5-phosphate can then be used either for sythesis of nucleotides, histidine, and tryptophan, or as a component of the pentose phosphate pathway. NA Belongs to the carbohydrate kinase PfkB family. Ribokinase subfamily. Carbohydrate metabolism; D-ribose degradation; D-ribose 5-phosphate from beta-D-ribopyranose: step 2/2.;Pentose phosphate pathway;Pentose phosphate pathway PE1 2 +NX_Q9H478 KCNQ1 downstream neighbor protein 68 7384 9.59 0 NA NA NA NA NA NA PE2 11 +NX_Q9H479 Fructosamine-3-kinase 309 35171 7.13 0 Mitochondrion NA Fructosamine-3-kinase involved in protein deglycation by mediating phosphorylation of fructoselysine residues on glycated proteins, to generate fructoselysine-3 phosphate (PubMed:11016445, PubMed:11522682, PubMed:11975663). Fructoselysine-3 phosphate adducts are unstable and decompose under physiological conditions (PubMed:11522682, PubMed:11975663). Involved in intracellular deglycation in erythrocytes (PubMed:11975663). Involved in the response to oxidative stress by mediating deglycation of NFE2L2/NRF2, glycation impairing NFE2L2/NRF2 function (By similarity). Also able to phosphorylate psicosamines and ribulosamines (PubMed:14633848). NA Belongs to the fructosamine kinase family. Gamma carboxylation, hypusine formation and arylsulfatase activation PE1 17 +NX_Q9H488 GDP-fucose protein O-fucosyltransferase 1 388 43956 8.77 0 Endoplasmic reticulum;Centrosome Dowling-Degos disease 2 Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. Specifically uses GDP-fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE/RFNG, an acetylglucosaminyltransferase that can then extend the fucosylation on the NOTCH EGF repeats. This extended fucosylation is required for optimal ligand binding and canonical NOTCH signaling induced by DLL1 or JAGGED1. Fucosylates AGRN and determines its ability to cluster acetylcholine receptors (AChRs). N-glycosylated. Belongs to the glycosyltransferase 65 family. Protein modification; protein glycosylation.;Other types of O-glycan biosynthesis;Pre-NOTCH Processing in the Endoplasmic Reticulum PE1 20 +NX_Q9H489 Putative testis-specific Y-encoded-like protein 3 355 39573 8.24 0 NA NA NA NA Belongs to the nucleosome assembly protein (NAP) family. NA PE5 20 +NX_Q9H490 Phosphatidylinositol glycan anchor biosynthesis class U protein 435 50052 7.59 9 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane NA Component of the GPI transamidase complex. May be involved in the recognition of either the GPI attachment signal or the lipid portion of GPI. NA Belongs to the PIGU family. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Attachment of GPI anchor to uPAR PE1 20 +NX_Q9H492 Microtubule-associated proteins 1A/1B light chain 3A 121 14272 8.73 0 Autophagosome membrane;Endomembrane system;Autophagosome;Cytoskeleton NA Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes) (PubMed:20713600, PubMed:24290141). Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (PubMed:20713600). Through its interaction with the reticulophagy receptor TEX264, paticipates in the remodeling of subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover (PubMed:31006538, PubMed:31006537). Phosphorylation at Ser-12 by PKA inhibits conjugation to phosphatidylethanolamine (PE). Interaction with MAPK15 reduces the inhibitory phosphorylation and increases autophagy activity.;The precursor molecule is cleaved by ATG4B to form the cytosolic form, LC3-I. This is activated by APG7L/ATG7, transferred to ATG3 and conjugated to phospholipid to form the membrane-bound form, LC3-II (PubMed:15187094).;The Legionella effector RavZ is a deconjugating enzyme that produces an ATG8 product that would be resistant to reconjugation by the host machinery due to the cleavage of the reactive C-terminal glycine. Belongs to the ATG8 family. Macroautophagy;Pink/Parkin Mediated Mitophagy;Receptor Mediated Mitophagy PE1 20 +NX_Q9H496 Torsin-1A-interacting protein 2, isoform IFRG15 131 15348 6.88 0 NA NA NA NA NA NA PE1 1 +NX_Q9H497 Torsin-3A 397 46199 5.67 0 Cytoplasm;Endoplasmic reticulum lumen NA NA N-glycosylated. Belongs to the ClpA/ClpB family. Torsin subfamily. NA PE1 1 +NX_Q9H4A3 Serine/threonine-protein kinase WNK1 2382 250794 5.94 0 Cytoplasm;Cytosol Neuropathy, hereditary sensory and autonomic, 2A;Pseudohypoaldosteronism 2C Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D and SGK1. Controls sodium and chloride ion transport by inhibiting the activity of WNK4, by either phosphorylating the kinase or via an interaction between WNK4 and the autoinhibitory domain of WNK1. WNK4 regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation. WNK1 may also play a role in actin cytoskeletal reorganization. Phosphorylates NEDD4L. Acts as a scaffold to inhibit SLC4A4, SLC26A6 as well as CFTR activities and surface expression, recruits STK39 which mediates the inhibition (By similarity).;Dominant-negative regulator of the longer isoform 1. Does not have kinase activity, does not directly inhibit WNK4 and has no direct effect on sodium and chloride ion transport. Downregulates sodium-chloride cotransporter activity indirectly by inhibiting isoform 1, it associates with isoform 1 and attenuates its kinase activity. In kidney, may play an important role regulating sodium and potassium balance. Ubiquitinated in vitro by the BCR(KLHL3) complex and in vivo by a BCR(KLHL2) complex, leading to proteasomal degradation.;May be O-glycosylated.;Autophosphorylation at Ser-382 is inhibited by intracellular calcium. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily. Stimuli-sensing channels PE1 12 +NX_Q9H4A4 Aminopeptidase B 650 72596 5.51 0 Golgi apparatus;Nucleoplasm;Secreted NA Exopeptidase which selectively removes arginine and/or lysine residues from the N-terminus of several peptide substrates including Arg(0)-Leu-enkephalin, Arg(0)-Met-enkephalin and Arg(-1)-Lys(0)-somatostatin-14. Can hydrolyze leukotriene A4 (LTA-4) into leukotriene B4 (LTB-4) (By similarity). NA Belongs to the peptidase M1 family. NA PE1 1 +NX_Q9H4A5 Golgi phosphoprotein 3-like 285 32767 5.62 0 Cell membrane;trans-Golgi network membrane;Golgi stack membrane;Nucleoplasm;Cytosol NA Phosphatidylinositol-4-phosphate-binding protein that may antagonize the action of GOLPH3 which is required for the process of vesicle budding at the Golgi and anterograde transport to the plasma membrane. NA Belongs to the GOLPH3/VPS74 family. NA PE1 1 +NX_Q9H4A6 Golgi phosphoprotein 3 298 33811 6.05 0 Golgi apparatus;Cell membrane;trans-Golgi network membrane;Mitochondrion intermembrane space;Golgi stack membrane;Endosome;Cytoplasmic vesicle NA Phosphatidylinositol-4-phosphate-binding protein that links Golgi membranes to the cytoskeleton and may participate in the tensile force required for vesicle budding from the Golgi. Thereby, may play a role in Golgi membrane trafficking and could indirectly give its flattened shape to the Golgi apparatus. May also bind to the coatomer to regulate Golgi membrane trafficking. May play a role in anterograde transport from the Golgi to the plasma membrane and regulate secretion. Has also been involved in the control of the localization of Golgi enzymes through interaction with their cytoplasmic part. May play an indirect role in cell migration. Has also been involved in the modulation of mTOR signaling. May also be involved in the regulation of mitochondrial lipids biosynthesis. Phosphorylated. Belongs to the GOLPH3/VPS74 family. NA PE1 5 +NX_Q9H4A9 Dipeptidase 2 486 53365 6.08 0 Membrane NA Probable metalloprotease which hydrolyzes leukotriene D4 (LTD4) into leukotriene E4 (LTE4). NA Belongs to the metallo-dependent hydrolases superfamily. Peptidase M19 family. Aflatoxin activation and detoxification;Synthesis of Leukotrienes (LT) and Eoxins (EX) PE1 16 +NX_Q9H4B0 Probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial 414 45123 8.83 0 Mitochondrion NA Required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in mitochondrial tRNAs that read codons beginning with adenine. Probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. Involved in mitochondrial genome maintenance. NA Belongs to the KAE1 / TsaD family. NA PE1 2 +NX_Q9H4B4 Serine/threonine-protein kinase PLK3 646 71629 9.28 0 Golgi apparatus;Cytoplasm;Nucleolus;Centrosome;Nucleus NA Serine/threonine-protein kinase involved in cell cycle regulation, response to stress and Golgi disassembly. Polo-like kinases act by binding and phosphorylating proteins are that already phosphorylated on a specific motif recognized by the POLO box domains. Phosphorylates ATF2, BCL2L1, CDC25A, CDC25C, CHEK2, HIF1A, JUN, p53/TP53, p73/TP73, PTEN, TOP2A and VRK1. Involved in cell cycle regulation: required for entry into S phase and cytokinesis. Phosphorylates BCL2L1, leading to regulate the G2 checkpoint and progression to cytokinesis during mitosis. Plays a key role in response to stress: rapidly activated upon stress stimulation, such as ionizing radiation, reactive oxygen species (ROS), hyperosmotic stress, UV irradiation and hypoxia. Involved in DNA damage response and G1/S transition checkpoint by phosphorylating CDC25A, p53/TP53 and p73/TP73. Phosphorylates p53/TP53 in response to reactive oxygen species (ROS), thereby promoting p53/TP53-mediated apoptosis. Phosphorylates CHEK2 in response to DNA damage, promoting the G2/M transition checkpoint. Phosphorylates the transcription factor p73/TP73 in response to DNA damage, leading to inhibit p73/TP73-mediated transcriptional activation and pro-apoptotic functions. Phosphorylates HIF1A and JUN is response to hypoxia. Phosphorylates ATF2 following hyperosmotic stress in corneal epithelium. Also involved in Golgi disassembly during the cell cycle: part of a MEK1/MAP2K1-dependent pathway that induces Golgi fragmentation during mitosis by mediating phosphorylation of VRK1. May participate in endomitotic cell cycle, a form of mitosis in which both karyokinesis and cytokinesis are interrupted and is a hallmark of megakaryocyte differentiation, via its interaction with CIB1. Phosphorylated in an ATM-dependent manner following DNA damage. Phosphorylated as cells enter mitosis and dephosphorylated as cells exit mitosis. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CDC5/Polo subfamily. Tuberculosis;Regulation of TP53 Activity through Phosphorylation;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 1 +NX_Q9H4B6 Protein salvador homolog 1 383 44634 9.12 0 Cytoplasm;Cytosol;Nucleus NA Regulator of STK3/MST2 and STK4/MST1 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. SAV1 is required for STK3/MST2 and STK4/MST1 activation and promotes cell-cycle exit and terminal differentiation in developing epithelial tissues. Plays a role in centrosome disjunction by regulating the localization of NEK2 to centrosomes, and its ability to phosphorylate CROCC and CEP250. In conjunction with STK3/MST2, activates the transcriptional activity of ESR1 through the modulation of its phosphorylation. Phosphorylated by STK3/MST2 and STK4/MST1. Phosphorylation is not required for SAV1 stability and may increase the number of protein binding sites on the scaffold molecule.;SAV1 is phosphorylated by STK3 NA Signaling by Hippo PE1 14 +NX_Q9H4B7 Tubulin beta-1 chain 451 50327 5.05 0 Cytoplasm;Cytoskeleton Macrothrombocytopenia, autosomal dominant, TUBB1-related Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).;Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.;Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable). Belongs to the tubulin family. Phagosome;Gap junction;Pathogenic Escherichia coli infection;Separation of Sister Chromatids;MHC class II antigen presentation;Intraflagellar transport;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Hedgehog 'off' state;Prefoldin mediated transfer of substrate to CCT/TriC;Formation of tubulin folding intermediates by CCT/TriC;Post-chaperonin tubulin folding pathway;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 20 +NX_Q9H4B8 Dipeptidase 3 488 53687 8.11 0 Membrane NA Probable metalloprotease which hydrolyzes cystinyl-bis-glycine. May be involved in meiosis (By similarity). NA Belongs to the metallo-dependent hydrolases superfamily. Peptidase M19 family. Aflatoxin activation and detoxification;Synthesis of Leukotrienes (LT) and Eoxins (EX) PE1 16 +NX_Q9H4D0 Calsyntenin-2 955 107006 5.21 1 Endoplasmic reticulum membrane;Cell membrane;Postsynapse;Golgi apparatus membrane;Cytoplasmic vesicle;Dendrite;Cytoskeleton NA May modulate calcium-mediated postsynaptic signals. Proteolytically processed under normal cellular conditions. A primary zeta-cleavage generates a large extracellular (soluble) N-terminal domain (sAlc) and a short C-terminal transmembrane fragment (CTF1). A secondary cleavage catalyzed by gamma-secretase within the transmembrane domain releases the beta-Alc-gamma chain in the extracellular milieu and produces an intracellular fragment (AlcICD). This processing is strongly suppressed in the tripartite complex formed with APBA2 and APP, which seems to prevent the association with PSEN1 (By similarity). NA NA PE1 3 +NX_Q9H4D5 Nuclear RNA export factor 3 531 60102 6.29 0 Cytoplasm;Nucleoplasm;Nucleus NA May function as a tissue-specific nuclear mRNA export factor. NA Belongs to the NXF family. Ribosome biogenesis in eukaryotes;RNA transport;mRNA surveillance pathway;Influenza A;Herpes simplex infection PE1 X +NX_Q9H4E5 Rho-related GTP-binding protein RhoJ 214 23821 6.37 0 Nucleoplasm;Nucleolus;Cell membrane NA Plasma membrane-associated small GTPase specifically involved in angiogenesis (PubMed:21628409, PubMed:24434213, PubMed:30158707). Required for endothelial cell migration during vascular development via its interaction with GLUL (PubMed:30158707). Elicits the formation of F-actin-rich structures, thereby regulating endothelial cell migration (PubMed:30158707). Palmitoylated; regulates localization to the plasma membrane and may be mediated by GLUL. Belongs to the small GTPase superfamily. Rho family. Rho GTPase cycle PE1 14 +NX_Q9H4E7 Differentially expressed in FDCP 6 homolog 631 73910 5.78 0 Cytoplasm;Cell membrane;Nucleoplasm;Filopodium;Perinuclear region;Nucleus;Cytoskeleton NA Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which plays a role in the activation of Rho GTPases RAC1, RhoA and CDC42. Can regulate cell morphology in cooperation with activated RAC1. Plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with ZAP70 signaling (By similarity). Tyrosine-phosphorylated by tyrosine-protein kinase LCK in response to T-cell activation. NA NA PE1 6 +NX_Q9H4F1 Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase 302 34201 8.9 1 Golgi apparatus;Nucleoplasm;Golgi apparatus membrane NA Involved in the biosynthesis of ganglioside GD1A from GM1B. Transfers CMP-NeuAc with an alpha-2,6-linkage to GalNAc residue on NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc of glycoproteins and glycolipids. Prefers glycoproteins to glycolipids (By similarity). NA Belongs to the glycosyltransferase 29 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - ganglio series;Metabolic pathways;Sialic acid metabolism;Termination of O-glycan biosynthesis PE1 9 +NX_Q9H4F8 SPARC-related modular calcium-binding protein 1 434 48163 8.59 0 Basement membrane;Cell membrane Ophthalmoacromelic syndrome Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation. Glycosylated. NA NA PE1 14 +NX_Q9H4G0 Band 4.1-like protein 1 881 98503 5.43 0 Cytoskeleton;Cell membrane Mental retardation, autosomal dominant 11 May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases. EPB41L1 is phosphorylated by MAPK8 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Tight junction;Trafficking of AMPA receptors;Neurexins and neuroligins PE1 20 +NX_Q9H4G1 Cystatin-9-like 147 17276 5.93 0 Secreted NA NA NA Belongs to the cystatin family. NA PE1 20 +NX_Q9H4G4 Golgi-associated plant pathogenesis-related protein 1 154 17218 9.44 0 Cytoplasmic vesicle;Cytoskeleton;Golgi apparatus membrane NA NA NA Belongs to the CRISP family. NA PE1 9 +NX_Q9H4G8 Putative DPH3 homolog B 78 8721 3.96 0 NA NA NA NA Belongs to the DPH3 family. NA PE5 20 +NX_Q9H4H8 Protein FAM83D 585 64424 6.1 0 Cytoplasm;Spindle pole;Cytosol;Spindle;Cytoskeleton NA Probable proto-oncogene that regulates cell proliferation, growth, migration and epithelial to mesenchymal transition. Through the degradation of FBXW7, may act indirectly on the expression and downstream signaling of MTOR, JUN and MYC (PubMed:24344117). May play also a role in cell proliferation through activation of the ERK1/ERK2 signaling cascade (PubMed:25646692). May also be important for proper chromosome congression and alignment during mitosis through its interaction with KIF22. Phosphorylated during mitosis. Belongs to the FAM83 family. NA PE1 20 +NX_Q9H4I0 Double-strand-break repair protein rad21-like protein 1 556 63324 5.07 0 Nucleus;Chromosome NA Meiosis-specific component of some cohesin complex required during the initial steps of prophase I in male meiosis. Probably required during early meiosis in males for separation of sister chromatids and homologous chromosomes. Replaces RAD21 in premeiotic S phase (during early stages of prophase I), while RAD21 reappears in later stages of prophase I. Involved in synaptonemal complex assembly, synapsis initiation and crossover recombination between homologous chromosomes during prophase I (By similarity). NA Belongs to the rad21 family. NA PE1 20 +NX_Q9H4I2 Zinc fingers and homeoboxes protein 3 956 104658 5.73 0 Nucleoplasm;Nucleus NA Acts as a transcriptional repressor. Involved in the early stages of mesenchymal stem cell (MSC) osteogenic differentiation. Is a regulator of podocyte gene expression during primary glomerula disease. Binds to promoter DNA. NA Belongs to the ZHX family. NA PE1 20 +NX_Q9H4I3 TraB domain-containing protein 376 42321 8.15 0 Nucleoplasm;Mitochondrion NA NA NA NA NA PE1 22 +NX_Q9H4I8 Serine hydrolase-like protein 2 314 35369 6.3 0 Peroxisome;Perinuclear region NA Probable serine hydrolase. May be related to cell muscle hypertrophy. NA Belongs to the AB hydrolase superfamily. NA PE1 22 +NX_Q9H4I9 Essential MCU regulator, mitochondrial 107 11441 6.56 1 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion NA Essential regulatory subunit of the mitochondrial calcium uniporter complex (uniplex), a complex that mediates calcium uptake into mitochondria (PubMed:24231807, PubMed:26774479, PubMed:27099988). Required to bridge the calcium-sensing proteins MICU1 and MICU2 with the calcium-conducting subunit MCU (PubMed:24231807). Plays a central role in regulating the uniplex complex response to intracellular calcium signaling (PubMed:27099988). Acts by mediating activation of MCU and retention of MICU1 to the MCU pore, in order to ensure tight regulation of the uniplex complex and appropriate responses to intracellular calcium signaling (PubMed:27099988). Undergoes proteolytic degradation in neurons: degraded by AFG3L2 before SMDT1/EMRE assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU (PubMed:27642048). Belongs to the SMDT1/EMRE family. Processing of SMDT1;Mitochondrial calcium ion transport PE1 22 +NX_Q9H4K1 RIB43A-like with coiled-coils protein 2 309 37060 9.57 0 NA NA NA NA Belongs to the RIB43A family. NA PE1 22 +NX_Q9H4K7 Mitochondrial ribosome-associated GTPase 2 406 43955 9.52 0 Mitochondrion inner membrane;Mitochondrion NA Plays a role in the regulation of the mitochondrial ribosome assembly and of translational activity. Displays GTPase activity. Involved in the ribosome maturation process. NA Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family. NA PE1 20 +NX_Q9H4L4 Sentrin-specific protease 3 574 65010 8.82 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA Protease that releases SUMO2 and SUMO3 monomers from sumoylated substrates, but has only weak activity against SUMO1 conjugates. Deconjugates SUMO2 from MEF2D, which increases its transcriptional activation capability. Deconjugates SUMO2 and SUMO3 from CDCA8. Redox sensor that, when redistributed into nucleoplasm, can act as an effector to enhance HIF1A transcriptional activity by desumoylating EP300. Required for rRNA processing through deconjugation of SUMO2 and SUMO3 from nucleophosmin, NPM1. Plays a role in the regulation of sumoylation status of ZNF148. Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes. NA Belongs to the peptidase C48 family. Major pathway of rRNA processing in the nucleolus and cytosol PE1 17 +NX_Q9H4L5 Oxysterol-binding protein-related protein 3 887 101224 6.42 0 Filopodium tip;Endoplasmic reticulum membrane;Cell membrane;Nucleus membrane;Nucleolus;Cytosol NA Phosphoinositide-binding protein which associates with both cell and endoplasmic reticulum (ER) membranes (PubMed:16143324). Can bind to the ER membrane protein VAPA and recruit VAPA to plasma membrane sites, thus linking these intracellular compartments (PubMed:25447204). The ORP3-VAPA complex stimulates RRAS signaling which in turn attenuates integrin beta-1 (ITGB1) activation at the cell surface (PubMed:18270267, PubMed:25447204). With VAPA, may regulate ER morphology (PubMed:16143324). Has a role in regulation of the actin cytoskeleton, cell polarity and cell adhesion (PubMed:18270267). Binds to phosphoinositides with preference for PI(3,4)P2 and PI(3,4,5)P3 (PubMed:16143324). Also binds 25-hydroxycholesterol and cholesterol (PubMed:17428193). Phosphorylation is enhanced in vitro by phorbol-12-myristate-13-acetate (PMA), forskolin and calcium ionophore A23187 (PubMed:25447204). Phosphorylation seems to be stimulated in conditions of low cell-cell (or cell-matrix) adhesion (PubMed:18270267). Belongs to the OSBP family. Synthesis of bile acids and bile salts PE1 7 +NX_Q9H4L7 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 1026 117402 5.39 0 Nucleoplasm;Nucleus;Chromosome Huriez syndrome;Adermatoglyphia;Basan syndrome DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization. Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs. Required for the restoration of heterochromatin organization after replication. Acts at replication sites to facilitate the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 'Lys-9' trimethylation (H3K9me3) and restoration of silencing. NA Belongs to the SNF2/RAD54 helicase family. NA PE1 4 +NX_Q9H4M3 F-box only protein 44 255 29747 5.52 0 Nucleoplasm NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 1 +NX_Q9H4M7 Pleckstrin homology domain-containing family A member 4 779 85401 10.57 0 Cytoplasm;Cell membrane;Centriolar satellite;Membrane;Cytosol;Cytoskeleton NA Binds specifically to phosphatidylinositol 3-phosphate (PtdIns3P), but not to other phosphoinositides. NA NA Synthesis of PIPs at the plasma membrane PE1 19 +NX_Q9H4M9 EH domain-containing protein 1 534 60627 6.35 0 Cilium membrane;Early endosome membrane;Recycling endosome membrane;Cell membrane NA ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. In vitro causes vesiculation of endocytic membranes (PubMed:24019528). Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes (PubMed:15020713, PubMed:17233914, PubMed:20801876). Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth (By similarity). Plays a role in myoblast fusion (By similarity). Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating a function in neuronal APP processing (By similarity). Plays a role in the formation of the ciliary vesicle (CV), an early step in cilium biogenesis. Proposed to be required for the fusion of distal appendage vesicles (DAVs) to form the CV by recruiting SNARE complex component SNAP29. Is required for recruitment of transition zone proteins CEP290, RPGRIP1L, TMEM67 and B9D2, and of IFT20 following DAV reorganization before Rab8-dependent ciliary membrane extension. Required for the loss of CCP110 form the mother centriole essential for the maturation of the basal body during ciliogenesis (PubMed:25686250). NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. EHD subfamily. Endocytosis;Factors involved in megakaryocyte development and platelet production PE1 11 +NX_Q9H4P4 E3 ubiquitin-protein ligase NRDP1 317 35905 5.75 0 Nucleoplasm;Nucleus;Midbody ring NA Acts as E3 ubiquitin-protein ligase and regulates the degradation of target proteins. Polyubiquitinates MYD88. Negatively regulates MYD88-dependent production of proinflammatory cytokines. Can promote TRIF-dependent production of type I interferon and inhibits infection with vesicular stomatitis virus (By similarity). Promotes also activation of TBK1 and IRF3. Involved in the ubiquitination of erythropoietin (EPO) and interleukin-3 (IL-3) receptors. Thus, through maintaining basal levels of cytokine receptors, RNF41 is involved in the control of hematopoietic progenitor cell differentiation into myeloerythroid lineages (By similarity). Contributes to the maintenance of steady-state ERBB3 levels by mediating its growth factor-independent degradation. Involved in the degradation of the inhibitor of apoptosis BIRC6 and thus is an important regulator of cell death by promoting apoptosis. Acts also as a PRKN modifier that accelerates its degradation, resulting in a reduction of PRKN activity, influencing the balance of intracellular redox state. The RNF41-PRKN pathway regulates autophagosome-lysosome fusion during late mitophagy. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control (PubMed:24949970). Autoubiquitinated. Autoubiquitination leads to proteasomal degradation. Deubiquitinated by USP8 to get stabilized which induces apoptosis. NA Protein modification; protein ubiquitination.;Endocytosis;Antigen processing: Ubiquitination & Proteasome degradation;Downregulation of ERBB2:ERBB3 signaling PE1 12 +NX_Q9H4Q3 PR domain zinc finger protein 13 707 73981 9 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. NA PE2 6 +NX_Q9H4Q4 PR domain zinc finger protein 12 367 40403 8.58 0 Nucleoplasm;Nucleus Neuropathy, hereditary sensory and autonomic, 8 Involved in the positive regulation of histone H3-K9 dimethylation. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. NA PE1 9 +NX_Q9H4R4 Putative nuclear receptor corepressor 1-like protein NCOR1P1 102 11336 6.96 0 NA NA NA NA Belongs to the N-CoR nuclear receptor corepressors family. NA PE5 20 +NX_Q9H4S2 GS homeobox 1 264 27883 9.17 0 Nucleus NA Probable transcription factor that binds to the DNA sequence 5'-GC[TA][AC]ATTA[GA]-3'. Activates the transcription of the GHRH gene. Plays an important role in pituitary development. NA Belongs to the Antp homeobox family. NA PE2 13 +NX_Q9H4T2 Zinc finger and SCAN domain-containing protein 16 348 40792 8.36 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 6 +NX_Q9H4W6 Transcription factor COE3 596 64864 8.91 0 Nucleus Hypotonia, ataxia, and delayed development syndrome Transcriptional activator (PubMed:28017373, PubMed:28017372, PubMed:28017370). Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3' (By similarity). NA Belongs to the COE family. NA PE1 10 +NX_Q9H4X1 Regulator of cell cycle RGCC 137 14559 4.59 0 Cytoplasm;Nucleolus;Nucleoplasm;Centrosome;Nucleus NA Modulates the activity of cell cycle-specific kinases. Enhances CDK1 activity. May contribute to the regulation of the cell cycle. May inhibit growth of glioma cells by promoting arrest of mitotic progression at the G2/M transition. Fibrogenic factor contributing to the pathogenesis of renal fibrosis through fibroblast activation. NA NA TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 13 +NX_Q9H4Y5 Glutathione S-transferase omega-2 243 28254 7.51 0 NA NA Exhibits glutathione-dependent thiol transferase activity. Has high dehydroascorbate reductase activity and may contribute to the recycling of ascorbic acid. Participates in the biotransformation of inorganic arsenic and reduces monomethylarsonic acid (MMA). NA Belongs to the GST superfamily. Omega family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Glutathione conjugation;Vitamin C (ascorbate) metabolism PE1 10 +NX_Q9H4Z2 Zinc finger protein 335 1342 144893 5.97 0 Nucleoplasm;Nucleus Microcephaly 10, primary, autosomal recessive Component or associated component of some histone methyltransferase complexes may regulate transcription through recruitment of those complexes on gene promoters. Enhances ligand-dependent transcriptional activation by nuclear hormone receptors. Plays an important role in neural progenitor cell proliferation and self-renewal through the regulation of specific genes involved brain development, including REST. Also controls the expression of genes involved in somatic development and regulates, for instance, lymphoblast proliferation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 20 +NX_Q9H4Z3 mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase 704 80670 7.09 0 Nucleoplasm;Nucleus;Cytoskeleton NA Cap-specific adenosine methyltransferase that catalyzes formation of N(6),2'-O-dimethyladenosine cap (m6A(m)) by methylating the adenosine at the second transcribed position of capped mRNAs (PubMed:30467178, PubMed:30487554, PubMed:31279658, PubMed:31279659). Recruited to the early elongation complex of RNA polymerase II (RNAPII) via interaction with POLR2A and mediates formation of m6A(m) co-transcriptionally (PubMed:30467178). NA Belongs to the CAPAM family. NA PE1 20 +NX_Q9H501 ESF1 homolog 851 98796 5.01 0 Nucleoplasm;Nucleolus NA May constitute a novel regulatory system for basal transcription. Negatively regulates ABT1 (By similarity). NA Belongs to the ESF1 family. NA PE1 20 +NX_Q9H503 Barrier-to-autointegration factor-like protein 90 10309 5.5 0 Cytoplasm;Nucleus NA May play a role in BANF1 regulation and influence tissue-specific roles of BANF1. NA Belongs to the BAF family. NA PE1 20 +NX_Q9H511 Kelch-like protein 31 634 70246 6.3 0 Nucleus NA Transcriptional repressor in MAPK/JNK signaling pathway to regulate cellular functions. Overexpression inhibits the transcriptional activities of both the TPA-response element (TRE) and serum response element (SRE). N-terminus is methylated by METTL11A/NTM1. NA NA PE1 6 +NX_Q9H521 Putative uncharacterized protein LOC645739 79 9322 4.71 0 NA NA NA NA NA NA PE5 13 +NX_Q9H553 Alpha-1,3/1,6-mannosyltransferase ALG2 416 47092 6.61 1 Membrane;Cytosol;Cytoskeleton Myasthenic syndrome, congenital, 14;Congenital disorder of glycosylation 1I Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. NA Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein;Defective ALG2 causes ALG2-CDG (CDG-1i) PE1 9 +NX_Q9H560 Putative ankyrin repeat domain-containing protein 19 264 30436 9.15 0 NA NA NA NA NA NA PE5 9 +NX_Q9H568 Actin-like protein 8 366 41360 5.78 0 Cytosol;Cytoskeleton NA NA NA Belongs to the actin family. NA PE1 1 +NX_Q9H579 Protein MROH8 483 54816 5.96 0 Nucleoplasm NA NA NA NA NA PE1 20 +NX_Q9H582 Zinc finger protein 644 1327 149565 8.43 0 Cytoplasmic vesicle;Nucleus Myopia 21, autosomal dominant May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 1 +NX_Q9H583 HEAT repeat-containing protein 1 2144 242370 6.11 0 Mitochondrion;Nucleolus NA Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I. NA Belongs to the HEATR1/UTP10 family. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 1 +NX_Q9H596 Dual specificity protein phosphatase 21 190 21529 8.95 0 Cytoplasm;Mitochondrion inner membrane;Nucleus NA Can dephosphorylate single and diphosphorylated synthetic MAPK peptides, with preference for the phosphotyrosine and diphosphorylated forms over phosphothreonine. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. NA PE1 X +NX_Q9H598 Vesicular inhibitory amino acid transporter 525 57415 6.19 10 Cytoplasmic vesicle membrane NA Involved in the uptake of GABA and glycine into the synaptic vesicles. NA Belongs to the amino acid/polyamine transporter 2 family. Synaptic vesicle cycle;GABAergic synapse;GABA synthesis, release, reuptake and degradation;Transport of inorganic cations/anions and amino acids/oligopeptides PE1 20 +NX_Q9H5F2 UPF0686 protein C11orf1 150 17785 8.68 0 Nucleoplasm;Nucleus NA NA NA Belongs to the UPF0686 family. NA PE1 11 +NX_Q9H5H4 Zinc finger protein 768 540 60229 8.27 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 16 +NX_Q9H5I1 Histone-lysine N-methyltransferase SUV39H2 410 46682 8.55 0 Centromere;Mitochondrion;Nucleus NA Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 using monomethylated H3 'Lys-9' as substrate. H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions. H3 'Lys-9' trimethylation is also required to direct DNA methylation at pericentric repeats. SUV39H1 is targeted to histone H3 via its interaction with RB1 and is involved in many processes, such as cell cycle regulation, transcriptional repression and regulation of telomere length. May participate in regulation of higher-order chromatin organization during spermatogenesis. Recruited by the large PER complex to the E-box elements of the circadian target genes such as PER2 itself or PER1, contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 'Lys-9' trimethylation. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar3-9 subfamily. Lysine degradation;PKMTs methylate histone lysines PE1 10 +NX_Q9H5I5 Piezo-type mechanosensitive ion channel component 2 2752 318064 5.82 37 Cell membrane;Membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol Arthrogryposis, distal, with impaired proprioception and touch;Arthrogryposis, distal, 5;Arthrogryposis, distal, 3;Marden-Walker syndrome Component of a mechanosensitive channel required for rapidly adapting mechanically activated (MA) currents. Required for Merkel-cell mechanotransduction. Plays a major role in light-touch mechanosensation. NA Belongs to the PIEZO (TC 1.A.75) family. NA PE1 18 +NX_Q9H5J0 Zinc finger and BTB domain-containing protein 3 574 61827 5.4 0 Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 11 +NX_Q9H5J4 Elongation of very long chain fatty acids protein 6 265 31376 9.42 7 Endoplasmic reticulum membrane NA Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that elongates fatty acids with 12, 14 and 16 carbons with higher activity toward C16:0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 long chain fatty acids and, to a lesser extent, C18:0 and those with low desaturation degree. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. N-Glycosylated. Belongs to the ELO family. ELOVL6 subfamily. Lipid metabolism; fatty acid biosynthesis.;Fatty acid elongation;Biosynthesis of unsaturated fatty acids;Synthesis of very long-chain fatty acyl-CoAs;Activation of gene expression by SREBF (SREBP) PE1 4 +NX_Q9H5J8 TATA box-binding protein-associated factor RNA polymerase I subunit D 278 32058 8.8 0 Centriolar satellite;Nucleolus;Nucleoplasm;Spindle;Nucleus NA Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits. NA NA NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;SIRT1 negatively regulates rRNA expression;B-WICH complex positively regulates rRNA expression PE1 11 +NX_Q9H5K3 Protein O-mannose kinase 350 40050 5.68 1 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane Muscular dystrophy-dystroglycanopathy limb-girdle C12;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only shows kinase activity when the GalNAc-beta-3-GlcNAc-beta-terminus is linked to the 4-position of O-mannose, suggesting that this disaccharide serves as the substrate recognition motif. NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily. O-linked glycosylation PE1 8 +NX_Q9H5L6 DNA transposase THAP9 903 103411 9.26 0 Mitochondrion NA Active transposase that specifically recognizes the bipartite 5'-TXXGGGX(A/T)-3' consensus motif and mediates transposition. NA NA NA PE1 4 +NX_Q9H5L9 Putative uncharacterized protein C5orf66 145 15570 8.9 0 NA NA NA NA NA NA PE5 5 +NX_Q9H5N1 Rab GTPase-binding effector protein 2 569 63543 4.76 0 Cytoplasm;Early endosome;Cilium basal body;Centrosome;Cytoplasmic vesicle;Cytosol NA Plays a role in membrane trafficking and in homotypic early endosome fusion (PubMed:9524116). Participates in arteriogenesis by regulating vascular endothelial growth factor receptor 2/VEGFR2 cell surface expression and endosomal trafficking (PubMed:29425100). By interacting with SDCCAG8, localizes to centrosomes and plays a critical role in ciliogenesis (PubMed:27224062). NA Belongs to the rabaptin family. NA PE1 16 +NX_Q9H5P4 PDZ domain-containing protein 7 1033 111752 9.74 0 Stereocilium;Nucleoplasm;Cilium;Nucleus Usher syndrome 2C;Deafness, autosomal recessive, 57;Usher syndrome 2A In cochlear developing hair cells, essential in organizing the USH2 complex at stereocilia ankle links. Blocks inhibition of adenylate cyclase activity mediated by ADGRV1. NA NA NA PE1 10 +NX_Q9H5Q4 Dimethyladenosine transferase 2, mitochondrial 396 45349 9.3 0 Mitochondrion NA S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity. Compared to TFB1M, it activates transcription of mitochondrial DNA more efficiently, while it has less methyltransferase activity. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. rRNA adenine N(6)-methyltransferase family. KsgA subfamily. Transcriptional activation of mitochondrial biogenesis;Mitochondrial transcription initiation PE1 1 +NX_Q9H5U6 rRNA N6-adenosine-methyltransferase ZCCHC4 513 59010 9.06 0 Golgi apparatus;Cytoplasm;Nucleus speckle;Nucleolus NA RRNA N6-methyltransferase that specifically methylates the adenine in position 4220 of 28S rRNA (PubMed:30531910). N6-methylation of adenine(4220) in 28S rRNA is required for translation (PubMed:30531910). NA Belongs to the ZCCHC4 family. NA PE1 4 +NX_Q9H5V7 Zinc finger protein Pegasus 419 46510 7.09 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA DNA-binding protein that binds to the 5'GNNTGTNG-3' core sequence. Transcriptional repressor. NA Belongs to the Ikaros C2H2-type zinc-finger protein family. NA PE1 10 +NX_Q9H5V8 CUB domain-containing protein 1 836 92932 8.28 1 Secreted;Cell membrane NA May be involved in cell adhesion and cell matrix association. May play a role in the regulation of anchorage versus migration or proliferation versus differentiation via its phosphorylation. May be a novel marker for leukemia diagnosis and for immature hematopoietic stem cell subsets. Belongs to the tetraspanin web involved in tumor progression and metastasis. N-glycosylated.;A soluble form may also be produced by proteolytic cleavage at the cell surface (shedding). Another peptide of 80 kDa (p80) is present in cultured keratinocytes probably due to tryptic cleavage at an unidentified site on its N-terminal side. Converted to p80 by plasmin, a trypsin-like protease.;Phosphorylated on tyrosine by kinases of the SRC family such as SRC and YES as well as by the protein kinase C gamma/PRKCG. Dephosphorylated by phosphotyrosine phosphatases. Also phosphorylated by suramin, a heparin analog. Tyrosine phosphorylated in response to dissociation of integrin alpha-6 beta-4 from laminin-5. NA NA PE1 3 +NX_Q9H5V9 UPF0428 protein CXorf56 222 25625 8.94 0 Nucleoplasm;Cytoplasm;Centrosome;Nucleus Mental retardation, X-linked 107 NA NA Belongs to the UPF0428 family. NA PE1 X +NX_Q9H5X1 Cytosolic iron-sulfur assembly component 2A 160 18355 4.88 0 Nucleoplasm;Cytoplasm;Cytosol NA Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins (PubMed:23891004). As a CIA complex component and in collaboration with CIAO1 specifically matures ACO1 and stabilizes IREB2, connecting cytosolic iron-sulfur protein maturation with cellular iron regulation (PubMed:23891004). May play a role in chromosome segregation through establishment of sister chromatid cohesion. May induce apoptosis in collaboration with APAF1 (PubMed:25716227). NA Belongs to the MIP18 family. NA PE1 15 +NX_Q9H5Y7 SLIT and NTRK-like protein 6 841 95110 6.07 1 Endoplasmic reticulum;Cell membrane Deafness and myopia Regulator of neurite outgrowth required for normal hearing and vision. NA Belongs to the SLITRK family. Receptor-type tyrosine-protein phosphatases PE1 13 +NX_Q9H5Z1 Probable ATP-dependent RNA helicase DHX35 703 78910 8.81 0 Nucleoplasm;Centrosome;Nucleus NA May be involved in pre-mRNA splicing. NA Belongs to the DEAD box helicase family. DEAH subfamily. NA PE1 20 +NX_Q9H5Z6 Protein FAM124B 455 50961 6.86 0 Nucleoplasm;Mitochondrion;Nucleus NA NA NA Belongs to the FAM124 family. NA PE1 2 +NX_Q9H606 Proline-rich protein, Y-linked 182 19976 10.13 0 NA NA NA NA NA NA PE2 Y +NX_Q9H607 Occludin/ELL domain-containing protein 1 264 29404 10.01 0 Golgi apparatus NA NA NA Belongs to the ELL/occludin family. NA PE2 19 +NX_Q9H609 Zinc finger protein 576 170 18890 8.79 0 Golgi apparatus;Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q9H611 ATP-dependent DNA helicase PIF1 641 69799 9.81 0 Nucleoplasm;Mitochondrion;Nucleus NA DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of both mitochondrial and nuclear genome stability. Efficiently unwinds G-quadruplex (G4) DNA structures and forked RNA-DNA hybrids. Resolves G4 structures, preventing replication pausing and double-strand breaks (DSBs) at G4 motifs. Involved in the maintenance of telomeric DNA. Inhibits telomere elongation, de novo telomere formation and telomere addition to DSBs via catalytic inhibition of telomerase. Reduces the processivity of telomerase by displacing active telomerase from DNA ends. Releases telomerase by unwinding the short telomerase RNA/telomeric DNA hybrid that is the intermediate in the telomerase reaction. Possesses an intrinsic strand annealing activity. NA Belongs to the helicase family. PIF1 subfamily. NA PE1 15 +NX_Q9H628 Ras-related and estrogen-regulated growth inhibitor-like protein 205 23855 9.56 0 Nucleoplasm NA Binds GDP/GTP and may possess intrinsic GTPase activity. NA Belongs to the small GTPase superfamily. Ras family. NA PE2 12 +NX_Q9H633 Ribonuclease P protein subunit p21 154 17570 9.64 0 Nucleolus NA Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends. NA Belongs to the eukaryotic/archaeal RNase P protein component 4 family. RNA transport;tRNA processing in the nucleus;Major pathway of rRNA processing in the nucleolus and cytosol PE1 6 +NX_Q9H649 tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial 340 38244 9.09 0 Nucleoplasm;Mitochondrion matrix;Nucleus membrane NA Mitochondrial tRNA methyltransferase that mediates methylation of cytosine to 5-methylcytosine (m5C) at position 34 of mt-tRNA(Met) (PubMed:27497299, PubMed:27214402, PubMed:27356879). Mt-tRNA(Met) methylation at cytosine(34) takes place at the wobble position of the anticodon and initiates the formation of 5-formylcytosine (f(5)c) at this position (PubMed:27497299, PubMed:27214402, PubMed:27356879). Mt-tRNA(Met) containing the f(5)c modification at the wobble position enables recognition of the AUA codon in addition to the AUG codon, expanding codon recognition in mitochondrial translation (PubMed:27497299, PubMed:27356879). NA Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. NA PE1 3 +NX_Q9H665 IGF-like family receptor 1 355 37895 6.7 1 Focal adhesion;Cell membrane NA Probable cell membrane receptor for the IGF-like family proteins. Binds IGFL1 and IGFL3 with a higher affinity. May also bind IGFL2. NA NA NA PE1 19 +NX_Q9H668 CST complex subunit STN1 368 42119 5.72 0 Nucleoplasm;Telomere;Nucleus Cerebroretinal microangiopathy with calcifications and cysts 2 Component of the CST complex, a complex that binds to single-stranded DNA and is required to protect telomeres from DNA degradation. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. In addition to telomere protection, the CST complex has probably a more general role in DNA metabolism at non-telomeric sites.;Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation (PubMed:19854130). However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3' overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha (PubMed:22964711, PubMed:22763445). The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins (PubMed:25483097). Required for efficicient replication of the duplex region of the telomere. Promotes efficient replication of lagging-strand telomeres (PubMed:22863775, PubMed:22964711). Promotes general replication start following replication-fork stalling implicating new origin firing (PubMed:22863775). May be in involved in C-strand fill-in during late S/G2 phase independent of its role in telomere duplex replication (PubMed:23142664). NA Belongs to the STN1 family. NA PE1 10 +NX_Q9H672 Ankyrin repeat and SOCS box protein 7 318 36011 8.57 0 Golgi apparatus;Cytoplasmic vesicle;Nucleoplasm NA Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 15 +NX_Q9H693 Uncharacterized protein C16orf95 158 16793 9.83 0 Endoplasmic reticulum NA NA NA NA NA PE1 16 +NX_Q9H694 Protein bicaudal C homolog 1 974 104844 8.75 0 Cytoplasm;Nucleoplasm Renal dysplasia, cystic Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating gene expression during embryonic development. NA Belongs to the BicC family. NA PE1 10 +NX_Q9H6A0 DENN domain-containing protein 2D 471 53672 7.55 0 Cytoplasm;Nucleoplasm;Cytosol NA Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. NA NA RAB GEFs exchange GTP for GDP on RABs PE1 1 +NX_Q9H6A9 Pecanex-like protein 3 2034 222039 6.19 13 Membrane;Cytosol NA NA NA Belongs to the pecanex family. NA PE1 11 +NX_Q9H6B1 Zinc finger protein 385D 395 42296 10.04 0 Nucleus NA NA NA NA NA PE1 3 +NX_Q9H6B4 CXADR-like membrane protein 373 41281 8.11 1 Tight junction;Cell membrane Congenital short bowel syndrome May be involved in the cell-cell adhesion. May play a role in adipocyte differentiation and development of obesity. Is required for normal small intestine development. NA NA NA PE1 11 +NX_Q9H6B9 Epoxide hydrolase 3 360 40909 7.67 1 Microsome membrane;Nucleoplasm NA Catalyzes the hydrolysis of epoxide-containing fatty acids. Active in vitro against epoxyeicosatrienoic acids (EETs) including 8,9-EET, 9,10-EET, 11,12-EET and 14,15-EET and leukotoxin. NA Belongs to the AB hydrolase superfamily. Epoxide hydrolase family. NA PE1 19 +NX_Q9H6D3 XK-related protein 8 395 44655 7.62 8 Golgi apparatus;Endoplasmic reticulum;Cell membrane NA Promotes phosphatidylserine exposure on apoptotic cell surface, possibly by mediating phospholipid scrambling. Phosphatidylserine is a specific marker only present at the surface of apoptotic cells and acts as a specific signal for engulfment. Has no effect on calcium-induced exposure of phosphatidylserine. Activated upon caspase cleavage, suggesting that it does not act prior the onset of apoptosis. Undergoes proteolytic processing by caspase-3 (CASP3), leading to its activation. Belongs to the XK family. NA PE1 1 +NX_Q9H6D7 HAUS augmin-like complex subunit 4 363 42400 5.52 0 Spindle;Focal adhesion;Centrosome;Cell membrane NA Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. NA Belongs to the HAUS4 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 14 +NX_Q9H6D8 Fibronectin type III domain-containing protein 4 234 25159 8.39 1 Membrane;Nucleoplasm;Cytosol;Secreted NA Acts as an anti-inflammatory factor in the intestine and colon. Binds to and acts on macrophages to downregulate pro-inflammatory gene expression. Affects key macrophage functions, including phagocytosis, by downregulating many key pathways for macrophage activation, partly via by STAT3 activation and signaling. May be required to dampen the immunological response in colitis. NA NA NA PE1 2 +NX_Q9H6E4 Coiled-coil domain-containing protein 134 229 26561 8.89 0 Endoplasmic reticulum;Cytoplasm;Secreted;Nucleus NA In the nucleus, enhances stability of the PCAF histone acetyltransferase (HAT) complex member TADA2A and thus promotes PCAF-mediated H3K14 and H4K8 HAT activity. May inhibit TADA2A-mediated TP53/p53 'Lys-321' acetylation, leading to reduced TP53 stability and transcriptional activity. May also promote TADA2A-mediated XRCC6 acetylation thus facilitating cell apoptosis in response to DNA damage.;In extracellular secreted form, promotes proliferation and activation of CD8(+) T cells, suggesting a cytokine-like function (PubMed:25125657). Enhances cytotoxic anti-tumor activity of CD8(+) T cells (PubMed:25125657). May inhibit ERK and JNK signaling activity (PubMed:18087676, PubMed:23070808). May suppress cell migration and invasion activity, via its effects on ERK and JNK signaling (PubMed:23070808). O-glycosylated, with additional sialic acid modifications. Belongs to the CCDC134 family. NA PE1 22 +NX_Q9H6E5 Speckle targeted PIP5K1A-regulated poly(A) polymerase 874 93847 5.8 0 Nucleoplasm;Cytosol;Nucleus speckle;Nucleolus NA Poly(A) polymerase that creates the 3'-poly(A) tail of specific pre-mRNAs. Localizes to nuclear speckles together with PIP5K1A and mediates polyadenylation of a select set of mRNAs, such as HMOX1. In addition to polyadenylation, it is also required for the 3'-end cleavage of pre-mRNAs: binds to the 3'UTR of targeted pre-mRNAs and promotes the recruitment and assembly of the CPSF complex on the 3'UTR of pre-mRNAs. In addition to adenylyltransferase activity, also has uridylyltransferase activity. However, the ATP ratio is higher than UTP in cells, suggesting that it functions primarily as a poly(A) polymerase. Acts as a specific terminal uridylyltransferase for U6 snRNA in vitro: responsible for a controlled elongation reaction that results in the restoration of the four 3'-terminal UMP-residues found in newly transcribed U6 snRNA. Not involved in replication-dependent histone mRNA degradation. Phosphorylated by CK1 in the proline-rich (Pro-rich) region.;TUT1 is phosphorylated by CSNK1A1 Belongs to the DNA polymerase type-B-like family. NA PE1 11 +NX_Q9H6F2 Trimeric intracellular cation channel type A 299 33260 8.56 7 Nucleoplasm;Nucleus membrane;Sarcoplasmic reticulum membrane NA Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores. NA Belongs to the TMEM38 family. NA PE1 19 +NX_Q9H6F5 Coiled-coil domain-containing protein 86 360 40236 10.33 0 Nucleoplasm;Nucleolus;Nucleus NA NA Citrullinated by PADI4. NA NA PE1 11 +NX_Q9H6H4 Receptor expression-enhancing protein 4 257 29395 9.74 2 Cytosol;Endoplasmic reticulum membrane NA Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes. NA Belongs to the DP1 family. Olfactory Signaling Pathway PE1 8 +NX_Q9H6I2 Transcription factor SOX-17 414 44117 6 0 Nucleoplasm;Nucleus Vesicoureteral reflux 3 Acts as transcription regulator that binds target promoter DNA and bends the DNA. Binds to the sequences 5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal development of the definitive gut endoderm. Required for normal looping of the embryonic heart tube. Plays an important role in embryonic and postnatal vascular development, including development of arteries. Plays an important role in postnatal angiogenesis, where it is functionally redundant with SOX18. Required for the generation and maintenance of fetal hematopoietic stem cells, and for fetal hematopoiesis. Probable transcriptional activator in the premeiotic germ cells. NA NA Wnt signaling pathway;Deactivation of the beta-catenin transactivating complex PE1 8 +NX_Q9H6J7 UPF0705 protein C11orf49 331 37353 5.16 0 Cytoplasm;Nucleus speckle;Nucleus NA NA NA Belongs to the UPF0705 family. NA PE1 11 +NX_Q9H6K1 Protein ILRUN 298 32872 4.43 0 Cytoplasm;Nucleus speckle;Centrosome;Nucleus NA Negative regulator of innate antiviral response. Blocks IRF3-dependent cytokine production such as IFNA, IFNB and TNF (PubMed:29802199). Interacts with IRF3 and inhibits IRF3 recruitment to type I IFN promoter sequences while also reducing nuclear levels of the coactivators EP300 and CREBBP (PubMed:29802199). NA NA NA PE1 6 +NX_Q9H6K4 Optic atrophy 3 protein 179 19996 9.07 0 Nucleoplasm;Cytosol;Mitochondrion Optic atrophy 3;3-methylglutaconic aciduria 3 May play some role in mitochondrial processes. NA Belongs to the OPA3 family. NA PE1 19 +NX_Q9H6K5 Proline-rich protein 36 1346 132748 10.48 0 Golgi apparatus;Nucleoplasm NA NA NA NA NA PE1 19 +NX_Q9H6L2 Transmembrane protein 231 316 36059 7.76 2 Cilium membrane;Cytoplasmic vesicle Joubert syndrome 20;Meckel syndrome 11 Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). NA Belongs to the TMEM231 family. NA PE1 16 +NX_Q9H6L4 Armadillo repeat-containing protein 7 198 21924 5.73 0 Cytosol NA NA NA NA NA PE1 17 +NX_Q9H6L5 Reticulophagy regulator 1 497 54681 4.53 4 Endoplasmic reticulum;cis-Golgi network membrane;Endoplasmic reticulum membrane Neuropathy, hereditary sensory and autonomic, 2B Endoplasmic reticulum-anchored autophagy receptor that mediates ER delivery into lysosomes through sequestration into autophagosomes (PubMed:26040720). Promotes membrane remodeling and ER scission via its membrane bending capacity and targets the fragments into autophagosomes via interaction with ATG8 family proteins (PubMed:26040720). Required for long-term survival of nociceptive and autonomic ganglion neurons (PubMed:19838196, PubMed:26040720). NA Belongs to the RETREG family. NA PE1 5 +NX_Q9H6N6 Putative uncharacterized protein MYH16 1097 128290 5.4 0 NA NA Has most probably lost the function in masticatory muscles contraction suspected for its homologs in dog (AC F1PT61) and apes. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. NA PE1 7 +NX_Q9H6P5 Threonine aspartase 1 420 44455 7.89 0 Cell membrane NA Protease involved in KMT2A/MLL1 processing and, consequently, in the correct expression of the early HOXA gene cluster. NA Belongs to the Ntn-hydrolase family. NA PE1 20 +NX_Q9H6Q3 Src-like-adapter 2 261 28585 5.23 0 Golgi apparatus;Cytoplasm;Cell membrane;Nucleoplasm;Cytoplasmic vesicle NA Adapter protein, which negatively regulates T-cell receptor (TCR) signaling. Inhibits T-cell antigen-receptor induced activation of nuclear factor of activated T-cells. May act by linking signaling proteins such as ZAP70 with CBL, leading to a CBL dependent degradation of signaling proteins. Phosphorylated by CSF1R. NA NA PE1 20 +NX_Q9H6Q4 Cytosolic iron-sulfur assembly component 3 476 53020 6.81 0 Cytosol;Cell membrane NA Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. Seems to negatively regulate the level of HIF1A expression, although this effect could be indirect. NA Belongs to the NARF family. Cytosolic iron-sulfur cluster assembly PE1 16 +NX_Q9H6R0 ATP-dependent RNA helicase DHX33 707 78874 9.08 0 Cytoplasm;Inflammasome;Nucleolus;Nucleoplasm;Nucleus NA Implicated in nucleolar organization, ribosome biogenesis, protein synthesis and cytoplasmic dsRNA sensing (By similarity) (PubMed:21930779, PubMed:23871209, PubMed:26100019). Stimulates RNA polymerase I transcription of the 47S precursor rRNA. Associates with ribosomal DNA (rDNA) loci where it is involved in POLR1A recruitment (PubMed:21930779). In the cytoplasm, promotes elongation-competent 80S ribosome assembly at the late stage of mRNA translation initiation (PubMed:26100019). Senses cytosolic dsRNA mediating NLRP3 inflammasome formation in macrophages and type I interferon production in myeloid dendritic cells (PubMed:23871209). Required for NLRP3 activation induced by viral dsRNA and bacterial RNA (PubMed:23871209). In dendritic cells, required for induction of type I interferon production induced by cytoplasmic dsRNA via the activation of MAPK and NF-kappa-B signaling pathways (By similarity). Ubiquitinated, leading to its degradation by the proteasome. Deubiquitinated by USP36. Belongs to the DEAD box helicase family. DEAH subfamily. NA PE1 17 +NX_Q9H6R3 Acyl-CoA synthetase short-chain family member 3, mitochondrial 686 74778 8.84 0 Mitochondrion matrix;Mitochondrion NA Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids (PubMed:28003429). Propionate is the preferred substrate (PubMed:28003429). Can utilize acetate and butyrate with a much lower affinity (By similarity). NA Belongs to the ATP-dependent AMP-binding enzyme family. Propanoate metabolism;Metabolic pathways;Synthesis of Ketone Bodies PE1 12 +NX_Q9H6R4 Nucleolar protein 6 1146 127593 7.42 0 Nucleoplasm;Nucleolus;Chromosome NA NA NA Belongs to the NRAP family. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 9 +NX_Q9H6R6 Palmitoyltransferase ZDHHC6 413 47663 8.81 4 Endoplasmic reticulum membrane NA Endoplasmic reticulum palmitoyl acyltransferase that mediates palmitoylation of proteins such as AMFR, CALX, ITPR1 and TFRC (PubMed:22314232, PubMed:22728137, PubMed:25368151, PubMed:28826475). Palmitoylates calnexin (CALX), which is required for its association with the ribosome-translocon complex and efficient folding of glycosylated proteins (PubMed:22314232). Mediates palmitoylation of AMFR, promoting AMFR distribution to the peripheral endoplasmic reticulum (PubMed:22728137). Together with SELENOK, palmitoylates ITPR1 in immune cells, leading to regulate ITPR1 stability and function (PubMed:25368151). Palmitoylated at 3 different sites by ZDHHC16 (PubMed:28826475). The combination of the different palmitoylation events strongly affects the quaternary assembly of ZDHHC6, its localization, stability and function (PubMed:28826475). Palmitoylation at Cys-328 accelerates the turnover of ZDHHC6 (PubMed:28826475). Depalmitoylated by LYPLA2 (PubMed:28826475). Belongs to the DHHC palmitoyltransferase family. NA PE1 10 +NX_Q9H6R7 WD repeat and coiled-coil-containing protein 721 79136 6.23 0 Cytosol;Nucleolus NA NA Phosphorylated on Tyr when associated with HCK. NA NA PE1 2 +NX_Q9H6S0 3'-5' RNA helicase YTHDC2 1430 160248 8.68 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA 3'-5' RNA helicase that plays a key role in the male and female germline by promoting transition from mitotic to meiotic divisions in stem cells (PubMed:26318451, PubMed:29033321). Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs, a modification present at internal sites of mRNAs and some non-coding RNAs that plays a role in the efficiency of RNA processing and stability (PubMed:26318451, PubMed:29033321). Essential for ensuring a successful progression of the meiotic program in the germline by regulating the level of m6A-containing RNAs (By similarity). Acts by binding and promoting degradation of m6A-containing mRNAs: the 3'-5' RNA helicase activity is required for this process and RNA degradation may be mediated by XRN1 exoribonuclease (PubMed:29033321). Required for both spermatogenesis and oogenesis (By similarity). NA Belongs to the DEAD box helicase family. DEAH subfamily. NA PE1 5 +NX_Q9H6S1 5-azacytidine-induced protein 2 392 44935 6.15 0 Cytoplasm NA Adapter protein which binds TBK1 and IKBKE playing a role in antiviral innate immunity. Activates serine/threonine-protein kinase TBK1 and facilitates its oligomerization. Enhances the phosphorylation of NF-kappa-B p65 subunit RELA by TBK1. Promotes TBK1-induced as well as TNF-alpha or PMA-induced activation of NF-kappa-B. Participates in IFNB promoter activation via TICAM1. NA NA RIG-I-like receptor signaling pathway PE1 3 +NX_Q9H6S3 Epidermal growth factor receptor kinase substrate 8-like protein 2 715 80621 6.39 0 Stereocilium;Cytoplasm;Cytosol;Cell membrane Deafness, autosomal recessive, 106 Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. In the cochlea, is required for stereocilia maintenance in adult hair cells (By similarity). NA Belongs to the EPS8 family. NA PE1 11 +NX_Q9H6T0 Epithelial splicing regulatory protein 2 727 78401 6.27 0 Nucleoplasm;Nucleus NA MRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2. NA Belongs to the ESRP family. FGFR2 alternative splicing PE1 16 +NX_Q9H6T3 RNA polymerase II-associated protein 3 665 75719 6.46 0 Cytosol NA Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. NA Belongs to the RPAP3 family. NA PE1 12 +NX_Q9H6U6 Breast carcinoma-amplified sequence 3 928 101237 6.23 0 Cytoplasm;Nucleolus;Nucleus;Cytoskeleton NA Plays a role in angiogenesis. Participates in the regulation of cell polarity and directional endothelial cell migration by mediating both the activation and recruitment of CDC42 and the reorganization of the actin cytoskeleton at the cell leading edge. Promotes filipodia formation (By similarity). Functions synergistically with PELP1 as a transcriptional coactivator of estrogen receptor-responsive genes. Stimulates histone acetyltransferase activity. Binds to chromatin. NA Belongs to the BCAS3 family. NA PE1 17 +NX_Q9H6U8 Alpha-1,2-mannosyltransferase ALG9 611 69863 8.91 8 Endoplasmic reticulum;Endoplasmic reticulum membrane Gillessen-Kaesbach-Nishimura syndrome;Congenital disorder of glycosylation 1L Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides. NA Belongs to the glycosyltransferase 22 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein;Defective ALG9 causes ALG9-CDG (CDG-1l) PE1 11 +NX_Q9H6V9 Lipid droplet-associated hydrolase 325 37319 6.09 0 Endoplasmic reticulum;Cytosol;Nucleus speckle;Lipid droplet NA Serine lipid hydrolase associated with lipid droplets. Highly expressed in macrophage-rich areas in atherosclerotic lesions, suggesting that it could promote cholesterol ester turnover in macrophages. NA Belongs to the AB hydrolase superfamily. LDAH family. NA PE1 2 +NX_Q9H6W3 Ribosomal oxygenase 1 641 71086 6.02 0 Nucleoplasm;Nucleolus NA Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase. Specifically demethylates 'Lys-4' (H3K4me) and 'Lys-36' (H3K36me) of histone H3, thereby playing a central role in histone code. Preferentially demethylates trimethylated H3 'Lys-4' (H3K4me3) and monomethylated H3 'Lys-4' (H3K4me1) residues, while it has weaker activity for dimethylated H3 'Lys-36' (H3K36me2). Also catalyzes the hydroxylation of 60S ribosomal protein L8 on 'His-216'. Acts as a regulator of osteoblast differentiation via its interaction with SP7/OSX by demethylating H3K4me and H3K36me, thereby inhibiting SP7/OSX-mediated promoter activation (By similarity). May also play a role in ribosome biogenesis and in the replication or remodeling of certain heterochromatic region. Participates in MYC-induced transcriptional activation. NA Belongs to the ROX family. NO66 subfamily. NA PE1 14 +NX_Q9H6X2 Anthrax toxin receptor 1 564 62789 7.54 1 Cytoplasmic vesicle;Filopodium membrane;Lamellipodium membrane;Cell membrane GAPO syndrome;Hemangioma, capillary infantile Plays a role in cell attachment and migration. Interacts with extracellular matrix proteins and with the actin cytoskeleton. Mediates adhesion of cells to type 1 collagen and gelatin, reorganization of the actin cytoskeleton and promotes cell spreading. Plays a role in the angiogenic response of cultured umbilical vein endothelial cells. NA Belongs to the ATR family. Uptake and function of anthrax toxins PE1 2 +NX_Q9H6X4 Transmembrane protein 134 195 21586 6.08 2 Membrane;Cytosol;Perinuclear region NA NA NA Belongs to the TMEM134/TMEM230 family. NA PE1 11 +NX_Q9H6X5 Uncharacterized protein C19orf44 657 71343 5.52 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 19 +NX_Q9H6Y2 WD repeat-containing protein 55 383 42070 4.78 0 Nucleoplasm;Cytoplasm;Nucleolus NA Nucleolar protein that acts as a modulator of rRNA synthesis. Plays a central role during organogenesis (By similarity). NA Belongs to the WD repeat WDR55 family. NA PE1 5 +NX_Q9H6Y5 PDZ domain-containing protein MAGIX 334 35273 10.79 0 Nucleoplasm NA NA NA NA NA PE1 X +NX_Q9H6Y7 E3 ubiquitin-protein ligase RNF167 350 38299 5.37 1 Endomembrane system NA May act as an E3 ubiquitin-protein ligase, or as part of the E3 complex, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, such as UBE2E1, and then transfers it to substrates, such as SLC22A18. May play a role in growth regulation involved in G1/S transition. Auto-ubiquitinated in vitro in the presence of UBE2D1 and UBE2E1. NA Protein modification; protein ubiquitination. PE1 17 +NX_Q9H6Z4 Ran-binding protein 3 567 60210 4.7 0 Cytoplasm;Nucleoplasm;Nucleus NA Acts as a cofactor for XPO1/CRM1-mediated nuclear export, perhaps as export complex scaffolding protein. Bound to XPO1/CRM1, stabilizes the XPO1/CRM1-cargo interaction. In the absence of Ran-bound GTP prevents binding of XPO1/CRM1 to the nuclear pore complex. Binds to CHC1/RCC1 and increases the guanine nucleotide exchange activity of CHC1/RCC1. Recruits XPO1/CRM1 to CHC1/RCC1 in a Ran-dependent manner. Negative regulator of TGF-beta signaling through interaction with the R-SMAD proteins, SMAD2 and SMAD3, and mediating their nuclear export. NA NA HTLV-I infection PE1 19 +NX_Q9H6Z9 Egl nine homolog 3 239 27261 7.56 0 Cytoplasm;Cytosol;Nucleus NA Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF2A. Hydroxylation on the NODD site by EGLN3 appears to require prior hydroxylation on the CODD site. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN3 is the most important isozyme in limiting physiological activation of HIFs (particularly HIF2A) in hypoxia. Also hydroxylates PKM in hypoxia, limiting glycolysis. Under normoxia, hydroxylates and regulates the stability of ADRB2. Regulator of cardiomyocyte and neuronal apoptosis. In cardiomyocytes, inhibits the anti-apoptotic effect of BCL2 by disrupting the BAX-BCL2 complex. In neurons, has a NGF-induced proapoptotic effect, probably through regulating CASP3 activity. Also essential for hypoxic regulation of neutrophilic inflammation. Plays a crucial role in DNA damage response (DDR) by hydroxylating TELO2, promoting its interaction with ATR which is required for activation of the ATR/CHK1/p53 pathway. Target proteins are preferentially recognized via a LXXLAP motif. NA NA Pathways in cancer;Renal cell carcinoma;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha PE1 14 +NX_Q9H706 GRB2-associated and regulator of MAPK protein 1 876 97186 6.32 0 Nucleoplasm;Cytosol NA Acts as an adapter protein that plays a role in intracellular signaling cascades triggered either by the cell surface activated epidermal growth factor receptor and/or cytoplasmic protein tyrosine kinases. Promotes activation of the MAPK/ERK signaling pathway. Plays a role in the regulation of cell proliferation. On EGF stimulation, phosphorylated on Tyr-105 and Tyr-453. Belongs to the GAREM family. NA PE1 18 +NX_Q9H707 Zinc finger protein 552 407 46198 8.84 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9H714 Protein associated with UVRAG as autophagy enhancer 662 73457 5.69 0 Autophagosome membrane;Cytosol NA Regulator of autophagy that promotes autophagosome maturation by facilitating the biogenesis of phosphatidylinositol 3-phosphate (PtdIns(3)P) in late steps of autophagy (PubMed:28306502, PubMed:30704899). Acts by antagonizing RUBCN, thereby stimulating phosphatidylinositol 3-kinase activity of the PI3K/PI3KC3 complex (PubMed:28306502). Following anchorage to the autophagosomal SNARE STX17, promotes the recruitment of PI3K/PI3KC3 and HOPS complexes to the autophagosome to regulate the fusion specificity of autophagosomes with late endosomes/lysosomes (PubMed:28306502). Binds phosphoinositides phosphatidylinositol 3-phosphate (PtdIns(3)P), 4-phosphate (PtdIns(4)P) and 5-phosphate (PtdIns(5)P) (PubMed:28306502). In addition to its role in autophagy, acts as a regulator of lipid and glycogen homeostasis (By similarity). May act as a tumor suppressor (Probable). Phosphorylated by MTOR at Ser-157 under nutrient-rich conditions (PubMed:30704899). Phosphorylation prevents acetylation by KAT5/TIP60 and impairs RUBCNL/PACER function and autophagosome maturation (PubMed:30704899). Under autophagy induction, Phosphorylation by MTOR is repressed, enabling acetylation by KAT5/TIP60 (PubMed:30704899).;Acetylated by KAT5/TIP60 under autophagy induction, promoting autophagosome maturation and lipid metabolism (PubMed:30704899). Acetylation is prevented by phosphorylation by MTOR (PubMed:30704899). Lys-483 and Lys-573 constitute the key sites for tuning function in autophagy (PubMed:30704899). NA NA PE1 13 +NX_Q9H720 PGAP2-interacting protein 699 78584 8.75 10 Membrane NA Involved in lipid remodeling during GPI-anchor maturation. NA Belongs to the PGAP2IP family. NA PE1 4 +NX_Q9H741 UPF0454 protein C12orf49 205 23594 8.49 0 Secreted NA NA NA Belongs to the UPF0454 family. NA PE1 12 +NX_Q9H756 Leucine-rich repeat-containing protein 19 370 42334 5.01 1 Membrane NA NA NA NA NA PE1 9 +NX_Q9H765 Ankyrin repeat and SOCS box protein 8 288 31642 5.58 0 Cytoplasm NA May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 12 +NX_Q9H772 Gremlin-2 168 19320 9.36 0 Secreted Tooth agenesis, selective, 9 Cytokine that inhibits the activity of BMP2 and BMP4 in a dose-dependent manner, and thereby modulates signaling by BMP family members. Contributes to the regulation of embryonic morphogenesis via BMP family members. Antagonizes BMP4-induced suppression of progesterone production in granulosa cells. N-glycosylated. Belongs to the DAN family. Signaling by BMP PE1 1 +NX_Q9H773 dCTP pyrophosphatase 1 170 18681 4.93 0 Nucleoplasm;Cytosol;Mitochondrion;Nucleus NA Hydrolyzes deoxynucleoside triphosphates (dNTPs) to the corresponding nucleoside monophosphates. Has a strong preference for dCTP and its analogs including 5-iodo-dCTP and 5-methyl-dCTP for which it may even have a higher efficiency. May protect DNA or RNA against the incorporation of these genotoxic nucleotide analogs through their catabolism. NA NA Interconversion of nucleotide di- and triphosphates PE1 16 +NX_Q9H777 Zinc phosphodiesterase ELAC protein 1 363 40019 6.32 0 Nucleoplasm;Cytosol;Nucleus NA Zinc phosphodiesterase, which displays some tRNA 3'-processing endonuclease activity. Probably involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA. NA Belongs to the RNase Z family. RNA transport PE1 18 +NX_Q9H788 SH2 domain-containing protein 4A 454 52727 8.09 0 Cytoplasm;Cytosol NA Inhibits estrogen-induced cell proliferation by competing with PLCG for binding to ESR1, blocking the effect of estrogen on PLCG and repressing estrogen-induced proliferation. May play a role in T-cell development and function. NA NA NA PE1 8 +NX_Q9H790 Exonuclease V 373 41816 5.28 0 Nucleoplasm;Cytosol;Nucleus NA Single-stranded DNA (ssDNA) bidirectional exonuclease involved in DNA repair. Probably involved in DNA repair following ultraviolet (UV) irradiation and interstrand cross-links (ICLs) damage. Has both 5'-3' and 3'-5' exonuclease activities with a strong preference for 5'-ends. Acts as a sliding exonuclease that loads at ssDNA ends and then slides along the ssDNA prior to cutting; however the sliding and the 3'-5' exonuclease activities are abolished upon binding to the replication protein A (RPA) complex that enforces 5'-directionality activity. NA Belongs to the EXO5 family. NA PE1 1 +NX_Q9H792 Inactive tyrosine-protein kinase PEAK1 1746 193106 6.46 0 Focal adhesion;Cytoskeleton NA Probable catalytically inactive kinase. Scaffolding protein that regulates the cytoskeleton to control cell spreading and migration by modulating focal adhesion dynamics (PubMed:23105102, PubMed:20534451). Acts as a scaffold for mediating EGFR signaling (PubMed:23846654). Phosphorylated on tyrosine in a CSK-dependent manner in response to adhesion to fibronectin and to EGF stimulation (PubMed:20534451). Phosphorylation at Tyr-665 by a Src family kinase controls subcellular localization to focal adhesion and focal adhesion dynamics (PubMed:20534451). Phosphorylation at Tyr-1188 is essential for binding to SHC1 (PubMed:23846654).;Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. NA PE1 15 +NX_Q9H799 Ciliogenesis and planar polarity effector 1 3197 361746 6.55 2 Membrane;Cytosol;Cilium Joubert syndrome 17;Orofaciodigital syndrome 6 Involved in ciliogenesis (PubMed:25877302). Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) complex. Involved in recruitment of peripheral IFT-A proteins to basal bodies (By similarity). NA NA NA PE1 5 +NX_Q9H7B2 Ribosome production factor 2 homolog 306 35583 10 0 Nucleoplasm;Nucleolus;Nucleus NA Involved in ribosomal large subunit assembly. May regulate the localization of the 5S RNP/5S ribonucleoprotein particle to the nucleolus. NA Belongs to the RPF2 family. NA PE1 6 +NX_Q9H7B4 Histone-lysine N-methyltransferase SMYD3 428 49097 7.05 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Histone methyltransferase. Specifically methylates 'Lys-4' of histone H3, inducing di- and tri-methylation, but not monomethylation (PubMed:15235609, PubMed:22419068). Also methylates 'Lys-5' of histone H4 (PubMed:22419068). Plays an important role in transcriptional activation as a member of an RNA polymerase complex (PubMed:15235609). Binds DNA containing 5'-CCCTCC-3' or 5'-GAGGGG-3' sequences (PubMed:15235609). NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. PKMTs methylate histone lysines PE1 1 +NX_Q9H7B7 Uncharacterized protein C7orf69 122 14425 9.47 0 Secreted NA NA NA NA NA PE2 7 +NX_Q9H7C4 Syncoilin 482 55299 4.59 0 Cytoplasmic vesicle;Golgi apparatus;Perinuclear region;Cell membrane NA Atypical type III intermediate filament (IF) protein that may play a supportive role in the efficient coupling of mechanical stress between the myofibril and fiber exterior. May facilitate lateral force transmission during skeletal muscle contraction. Does not form homofilaments nor heterofilaments with other IF proteins. NA Belongs to the intermediate filament family. NA PE1 1 +NX_Q9H7C9 Mth938 domain-containing protein 122 13332 8.58 0 Nucleoplasm;Cytoplasm;Cytosol NA May play a role in preadipocyte differentiation and adipogenesis. NA Belongs to the AAMDC family. NA PE1 11 +NX_Q9H7D0 Dedicator of cytokinesis protein 5 1870 215309 8.08 0 Cytoplasm;Cytosol;Cell membrane NA Guanine nucleotide exchange factor (GEF) for Rho and Rac. GEF proteins activate small GTPases by exchanging bound GDP for free GTP (By similarity). Along with DOCK1, mediates CRK/CRKL regulation of epithelial and endothelial cell spreading and migration on type IV collagen (PubMed:19004829). NA Belongs to the DOCK family. Factors involved in megakaryocyte development and platelet production PE1 8 +NX_Q9H7D7 WD repeat-containing protein 26 661 72124 5.74 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cytosol;Nucleus Skraban-Deardorff syndrome G-beta-like protein involved in cell signal transduction (PubMed:15378603, PubMed:19446606, PubMed:22065575, PubMed:23625927, PubMed:27098453, PubMed:26895380). Acts as a negative regulator in MAPK signaling pathway (PubMed:15378603). Functions as a scaffolding protein to promote G beta:gamma-mediated PLCB2 plasma membrane translocation and subsequent activation in leukocytes (PubMed:22065575, PubMed:23625927). Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Acts as a negative regulator of the canonical Wnt signaling pathway through preventing ubiquitination of beta-catenin CTNNB1 by the beta-catenin destruction complex, thus negatively regulating CTNNB1 degradation (PubMed:27098453). Serves as a scaffold to coordinate PI3K/AKT pathway-driven cell growth and migration (PubMed:26895380). Protects cells from oxidative stress-induced apoptosis via the down-regulation of AP-1 transcriptional activity as well as by inhibiting cytochrome c release from mitochondria (PubMed:19446606). Protects also cells by promoting hypoxia-mediated autophagy and mitophagy (By similarity). NA NA NA PE1 1 +NX_Q9H7E2 Tudor domain-containing protein 3 651 73185 9.27 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Cytosol;Nucleus NA Scaffolding protein that specifically recognizes and binds dimethylarginine-containing proteins. In nucleus, acts as a coactivator: recognizes and binds asymmetric dimethylation on the core histone tails associated with transcriptional activation (H3R17me2a and H4R3me2a) and recruits proteins at these arginine-methylated loci. In cytoplasm, may play a role in the assembly and/or disassembly of mRNA stress granules and in the regulation of translation of target mRNAs by binding Arg/Gly-rich motifs (GAR) in dimethylarginine-containing proteins. NA NA NA PE1 13 +NX_Q9H7E9 UPF0488 protein C8orf33 229 24993 9.99 0 Nucleoplasm;Cell membrane NA NA NA Belongs to the UPF0488 family. NA PE1 8 +NX_Q9H7F0 Probable cation-transporting ATPase 13A3 1226 138043 6.21 11 Membrane;Cytosol;Nucleolus;Cell membrane NA NA NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. NA PE1 3 +NX_Q9H7F4 Transmembrane protein 185B 350 40599 7.66 7 Membrane NA NA NA Belongs to the TMEM185 family. NA PE1 2 +NX_Q9H7H0 Methyltransferase-like protein 17, mitochondrial 456 50734 9.45 0 Nucleoplasm;Mitochondrion NA May be a component of the mitochondrial small ribosomal subunit. NA Belongs to the methyltransferase superfamily. Rsm22 family. NA PE1 14 +NX_Q9H7J1 Protein phosphatase 1 regulatory subunit 3E 279 30644 11.16 0 Spindle;Mitochondrion;Cytoskeleton NA Acts as a glycogen-targeting subunit for PP1. PP1 is involved in glycogen metabolism and contributes to the activation of glycogen synthase leading to an increase in glycogen synthesis. NA NA NA PE1 14 +NX_Q9H7L2 Putative killer cell immunoglobulin-like receptor-like protein KIR3DX1 352 38777 8.69 0 Secreted NA NA NA NA NA PE5 19 +NX_Q9H7L9 Sin3 histone deacetylase corepressor complex component SDS3 328 38136 5.55 0 Cytosol;Nucleus NA Regulatory protein which represses transcription and augments histone deacetylase activity of HDAC1. May have a potential role in tumor suppressor pathways through regulation of apoptosis. May function in the assembly and/or enzymatic activity of the mSin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes. Polyubiquitinated. 'Lys-63'-polyubiquitinated SUDS3 positively regulates histone deacetylation. Regulated through deubiquitination by USP17L2/USP17 that cleaves 'Lys-63'-linked ubiquitin chains. Belongs to the SDS3 family. NoRC negatively regulates rRNA expression;HDACs deacetylate histones;Ub-specific processing proteases PE1 12 +NX_Q9H7M6 Zinc finger SWIM domain-containing protein 4 989 110138 6.63 0 NA NA NA NA NA NA PE1 19 +NX_Q9H7M9 V-type immunoglobulin domain-containing suppressor of T-cell activation 311 33908 6.45 1 Nucleoplasm;Cell membrane NA Immunoregulatory receptor which inhibits the T-cell response (PubMed:24691993). May promote differentiation of embryonic stem cells, by inhibiting BMP4 signaling (By similarity). May stimulate MMP14-mediated MMP2 activation (PubMed:20666777). N-glycosylated.;At the cell surface, may be cleaved by MMP14. NA NA PE1 10 +NX_Q9H7N4 Splicing factor, arginine/serine-rich 19 1312 139270 9.31 0 Nucleoplasm;Cytosol;Nucleus NA May function in pre-mRNA splicing. NA Belongs to the splicing factor SR family. NA PE1 19 +NX_Q9H7P6 Multivesicular body subunit 12B 319 35620 8.42 0 Golgi apparatus;Cytoplasmic vesicle;Endosome;Late endosome membrane NA Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. NA Belongs to the MVB12 family. Endocytosis;Budding and maturation of HIV virion;Membrane binding and targetting of GAG proteins;Endosomal Sorting Complex Required For Transport (ESCRT);Microautophagy PE1 9 +NX_Q9H7P9 Pleckstrin homology domain-containing family G member 2 1386 147969 5.57 0 Nucleoplasm;Cytosol Leukodystrophy and acquired microcephaly with or without dystonia May be a transforming oncogene with exchange activity for CDC42 (By similarity). May be a guanine-nucleotide exchange factor (GEF) for RAC1 and CDC42. Activated by the binding to subunits beta and gamma of the heterotrimeric guanine nucleotide-binding protein (G protein) (PubMed:18045877). Involved in the regulation of actin polymerization (PubMed:26573021). NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 19 +NX_Q9H7R0 Zinc finger protein 442 627 72863 9.03 0 Cytoplasmic vesicle;Nucleus;Nucleus membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 19 +NX_Q9H7R5 Zinc finger protein 665 678 77640 9.3 0 Nucleus;Nucleus membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9H7S9 Zinc finger protein 703 590 58222 8.99 0 Cytoplasm;Nucleus NA Transcriptional corepressor which does not bind directly to DNA and may regulate transcription through recruitment of histone deacetylases to gene promoters. Regulates cell adhesion, migration and proliferation. May be required for segmental gene expression during hindbrain development. NA Belongs to the Elbow/Noc family. Generic Transcription Pathway PE1 8 +NX_Q9H7T0 Cation channel sperm-associated protein subunit beta 1116 126924 6.72 4 Membrane;Cytoplasmic vesicle NA Probably involved in sperm cell hyperactivation via its association with CATSPER1. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. NA NA Sperm Motility And Taxes PE1 14 +NX_Q9H7T3 Uncharacterized protein C10orf95 257 26270 11.69 0 NA NA NA NA NA NA PE1 10 +NX_Q9H7T9 Aurora kinase A and ninein-interacting protein 357 40253 7.19 0 Spindle pole;Centrosome;Nucleus;Chromosome NA DNA-binding protein that accumulates at DNA double-strand breaks (DSBs) following DNA damage and promotes DNA resection and homologous recombination (PubMed:29042561). Serves as a sensor of DNA damage: binds DNA with a strong preference for DNA substrates that mimic structures generated at stalled replication forks, and anchors RBBP8/CtIP to DSB sites to promote DNA end resection and ensuing homologous recombination repair (PubMed:29042561). Inhibits non-homologous end joining (NHEJ) (PubMed:29042561). Required for the dynamic movement of AURKA at the centrosomes and spindle apparatus during the cell cycle (PubMed:20596670). AUNIP is phosphorylated by AURKA (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the AUNIP family. NA PE1 1 +NX_Q9H7U1 Serine-rich coiled-coil domain-containing protein 2 834 93548 6.4 0 Nucleoplasm;Cytosol;Cytoskeleton NA Microtubule-binding protein which might play a role in microtubule bundling. NA Belongs to the CCSER family. NA PE1 10 +NX_Q9H7V2 Synapse differentiation-inducing gene protein 1 258 28551 4.74 1 Dendritic spine;Cell membrane;Postsynaptic density;Synapse;Early endosome membrane;Cytoplasmic vesicle;Dendrite NA May regulate AMPA receptor content at nascent synapses, and have a role in postsynaptic development and maturation. NA Belongs to the CD225/Dispanin family. NA PE1 20 +NX_Q9H7X0 N-alpha-acetyltransferase 60 242 27451 7.21 0 Golgi apparatus membrane;Cytosol;Cytoskeleton NA N-alpha-acetyltransferase that specifically mediates the acetylation of N-terminal residues of the transmembrane proteins, with a strong preference for N-termini facing the cytosol (PubMed:25732826). Displays N-terminal acetyltransferase activity towards a range of N-terminal sequences including those starting with Met-Lys, Met-Val, Met-Ala and Met-Met (PubMed:21750686, PubMed:25732826, PubMed:27550639, PubMed:27320834). Required for normal chromosomal segregation during anaphase (PubMed:21750686). May also show histone acetyltransferase activity; such results are however unclear in vivo and would require additional experimental evidences (PubMed:21981917). Acetylated: autoacetylation is required for optimal acetyltransferase activity. Belongs to the acetyltransferase family. NAA60 subfamily. NA PE1 16 +NX_Q9H7X2 Uncharacterized protein C1orf115 142 15517 9.87 1 Membrane NA NA NA NA NA PE1 1 +NX_Q9H7X3 Zinc finger protein 696 374 40575 9.26 0 Nucleoplasm;Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 8 +NX_Q9H7X7 Intraflagellar transport protein 22 homolog 185 20835 5.03 0 Cytosol;Cilium;Cytoskeleton NA Small GTPase-like component of the intraflagellar transport (IFT) complex B. NA Belongs to the small GTPase superfamily. Rab family. Intraflagellar transport PE1 7 +NX_Q9H7Y0 Divergent protein kinase domain 2B 433 48555 8.11 0 Secreted NA NA NA Belongs to the DIPK family. NA PE1 X +NX_Q9H7Z3 Nuclear exosome regulator NRDE2 1164 132673 7.72 0 Nucleus speckle;Mitochondrion;Nucleolus;Nucleoplasm;Nucleus NA Protein of the nuclear speckles that regulates RNA degradation and export from the nucleus through its interaction with MTREX an essential factor directing various RNAs to exosomal degradation (PubMed:30842217). Changes the conformation of MTREX, precluding its association with the nuclear exosome and interaction with proteins required for its function in RNA exosomal degradation (PubMed:30842217). Negatively regulates, for instance, the degradation of mRNAs and lncRNAs by inhibiting their MTREX-mediated recruitment to nuclear exosome (PubMed:30842217). By preventing the degradation of RNAs in the nucleus, it promotes their export to the cytoplasm (PubMed:30842217). NA Belongs to the NRDE2 family. NA PE1 14 +NX_Q9H7Z6 Histone acetyltransferase KAT8 458 52403 8.48 0 Nucleoplasm;Nucleus;Chromosome NA Histone acetyltransferase which may be involved in transcriptional activation (PubMed:12397079, PubMed:22020126). May influence the function of ATM (PubMed:15923642). As part of the MSL complex it is involved in acetylation of nucleosomal histone H4 producing specifically H4K16ac (PubMed:16227571, PubMed:16543150, PubMed:21217699, PubMed:22547026, PubMed:22020126). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues (PubMed:20018852, PubMed:22547026). That activity is less specific than the one of the MSL complex (PubMed:20018852, PubMed:22547026). Can also acetylate TP53/p53 at 'Lys-120'. Autoacetylation at Lys-274 is required for binding histone H4 with high affinity and for proper function. Belongs to the MYST (SAS/MOZ) family. HATs acetylate histones PE1 16 +NX_Q9H7Z7 Prostaglandin E synthase 2 377 41943 9.22 1 Golgi apparatus membrane;Mitochondrion;Perinuclear region NA Isomerase that catalyzes the conversion of PGH2 into the more stable prostaglandin E2 (PGE2). NA Belongs to the GST superfamily. Lipid metabolism; prostaglandin biosynthesis.;Arachidonic acid metabolism;Metabolic pathways;Synthesis of Prostaglandins (PG) and Thromboxanes (TX);Neutrophil degranulation PE1 9 +NX_Q9H808 Transducin-like enhancer protein 6 572 63473 5.78 0 Cytoplasm Preimplantation embryonic lethality 1 As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions. NA Belongs to the WD repeat Groucho/TLE family. NA PE1 19 +NX_Q9H813 Proton-activated chloride channel 350 40043 9.01 2 Cell membrane NA Proton-activated chloride channel that mediates import of chloride ion in response to extracellular acidic pH (PubMed:31023925). Involved in acidosis-induced cell death by mediating chloride influx and subsequent cell swelling (PubMed:31023925). NA Belongs to the proton-activated chloride channel family. NA PE1 1 +NX_Q9H814 Phosphorylated adapter RNA export protein 394 44403 5.27 0 Cajal body;Nucleoplasm;Cytoplasm NA A phosphoprotein adapter involved in the XPO1-mediated U snRNA export from the nucleus. Bridge components required for U snRNA export, the cap binding complex (CBC)-bound snRNA on the one hand and the GTPase Ran in its active GTP-bound form together with the export receptor XPO1 on the other. Its phosphorylation in the nucleus is required for U snRNA export complex assembly and export, while its dephosphorylation in the cytoplasm causes export complex disassembly. It is recycled back to the nucleus via the importin alpha/beta heterodimeric import receptor. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Its compartmentalized phosphorylation cycle may also contribute to the directionality of export. Binds strongly to m7G-capped U1 and U5 small nuclear RNAs (snRNAs) in a sequence-unspecific manner and phosphorylation-independent manner (By similarity). Plays also a role in the biogenesis of U3 small nucleolar RNA (snoRNA). Involved in the U3 snoRNA transport from nucleoplasm to Cajal bodies. Binds strongly to m7G-capped U3, U8 and U13 precursor snoRNAs and weakly to trimethylated (TMG)-capped U3, U8 and U13 snoRNAs. Binds also to telomerase RNA. Phosphorylated in the nucleus. Dephosphorylated in the cytoplasm (By similarity). Belongs to the PHAX family. RNA transport;snRNP Assembly;RNA polymerase II transcribes snRNA genes PE1 5 +NX_Q9H816 5' exonuclease Apollo 532 60002 8.64 0 Nucleoplasm;Centrosome;Telomere;Nucleus Hoyeraal-Hreidarsson syndrome 5'-3' exonuclease that plays a central role in telomere maintenance and protection during S-phase. Participates in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair, thereby ensuring that telomeres do not fuse. Plays a key role in telomeric loop (T loop) formation by being recruited by TERF2 at the leading end telomeres and by processing leading-end telomeres immediately after their replication via its exonuclease activity: generates 3' single-stranded overhang at the leading end telomeres avoiding blunt leading-end telomeres that are vulnerable to end-joining reactions and expose the telomere end in a manner that activates the DNA repair pathways. Together with TERF2, required to protect telomeres from replicative damage during replication by controlling the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere replication during fork passage and prevent aberrant telomere topology. Also involved in response to DNA damage: plays a role in response to DNA interstrand cross-links (ICLs) by facilitating double-strand break formation. In case of spindle stress, involved in prophase checkpoint. Ubiquitinated, leading to its degradation. Interaction with TERF2 protects it from ubiquitination. Belongs to the DNA repair metallo-beta-lactamase (DRMBL) family. Fanconi Anemia Pathway PE1 1 +NX_Q9H819 DnaJ homolog subfamily C member 18 358 41551 7.04 1 Membrane;Cell junction NA NA NA NA NA PE1 5 +NX_Q9H825 mRNA N(3)-methylcytidine methyltransferase METTL8 291 33387 6.46 0 Cytoplasm;Cytosol;Nucleus NA S-adenosyl-L-methionine-dependent methyltransferase that mediates N(3)-methylcytidine modification of mRNAs. NA Belongs to the methyltransferase superfamily. METL family. NA PE1 2 +NX_Q9H832 Ubiquitin-conjugating enzyme E2 Z 354 38210 5.37 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Catalyzes the covalent attachment of ubiquitin to other proteins (By similarity). Specific substrate for UBA6, not charged with ubiquitin by UBE1. May be involved in apoptosis regulation. NA Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Synthesis of active ubiquitin: roles of E1 and E2 enzymes PE1 17 +NX_Q9H840 Gem-associated protein 7 131 14537 6.83 0 Nucleoplasm;Gem;Cytoplasm;Cytosol NA The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. NA Belongs to the gemin-7 family. RNA transport;snRNP Assembly PE1 19 +NX_Q9H841 NIPA-like protein 2 368 40785 9.05 9 Membrane NA NA NA Belongs to the NIPA family. Miscellaneous transport and binding events PE1 8 +NX_Q9H845 Complex I assembly factor ACAD9, mitochondrial 621 68760 8.15 0 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex I deficiency, nuclear type 20 As part of the MCIA complex, primarily participates to the assembly of the mitochondrial complex I and therefore plays a role in oxidative phosphorylation (PubMed:20816094, PubMed:24158852). This moonlighting protein has also a dehydrogenase activity toward a broad range of substrates with greater specificity for long-chain unsaturated acyl-CoAs (PubMed:12359260, PubMed:16020546, PubMed:21237683, PubMed:24158852). However, in vivo, it does not seem to play a primary role in fatty acid oxidation (PubMed:20816094, PubMed:24158852). In addition, the function in complex I assembly is independent of the dehydrogenase activity of the protein (PubMed:24158852). NA Belongs to the acyl-CoA dehydrogenase family. Complex I biogenesis PE1 3 +NX_Q9H853 Putative tubulin-like protein alpha-4B 241 27551 7.71 0 Cytoskeleton NA NA Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear.;Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group. Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold. Belongs to the tubulin family. Separation of Sister Chromatids;MHC class II antigen presentation;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Formation of tubulin folding intermediates by CCT/TriC;Post-chaperonin tubulin folding pathway;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE5 2 +NX_Q9H857 5'-nucleotidase domain-containing protein 2 520 60719 6.3 0 NA NA NA NA Belongs to the 5'(3')-deoxyribonucleotidase family. NA PE1 3 +NX_Q9H867 Protein-lysine methyltransferase METTL21D 229 25807 4.83 0 Cytoplasm;Cytosol NA Protein-lysine N-methyltransferase that specifically trimethylates 'Lys-315' of VCP/p97; this modification may decrease VCP ATPase activity. NA Belongs to the methyltransferase superfamily. METTL21 family. Protein methylation PE1 14 +NX_Q9H869 YY1-associated protein 1 796 87944 8.04 0 Nucleus;Cytoplasm;Nucleoplasm;Nucleolus Grange syndrome Associates with the INO80 chromatin remodeling complex, which is responsible for transcriptional regulation, DNA repair, and replication (PubMed:27939641). Enhances transcription activation by YY1 (PubMed:14744866). Plays a role in cell cycle regulation (PubMed:17541814, PubMed:27939641). NA NA NA PE1 1 +NX_Q9H871 E3 ubiquitin-protein transferase RMND5A 391 43993 5.71 0 Nucleoplasm;Cytoplasm NA Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). Catalytic activity of the complex is required for normal cell proliferation (PubMed:29911972). The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 (PubMed:29911972). NA NA NA PE1 2 +NX_Q9H875 PRKR-interacting protein 1 184 20997 9.78 0 Cytosol;Nucleus;Nucleolus;Cytoskeleton NA Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:30705154). Binds double-stranded RNA. Inhibits EIF2AK2 kinase activity (By similarity). NA Belongs to the PRKRIP1 family. NA PE1 7 +NX_Q9H892 Tetratricopeptide repeat protein 12 705 78756 5.5 0 Nucleoplasm NA NA NA NA NA PE1 11 +NX_Q9H898 Zinc finger matrin-type protein 4 229 25833 9.49 0 Nucleoplasm;Nucleus;Nucleolus NA NA NA NA NA PE1 8 +NX_Q9H8E8 Cysteine-rich protein 2-binding protein 782 88844 6.14 0 Cytoplasm;Nucleus;Cytoplasmic vesicle NA Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. May function as a scaffold for the ATAC complex to promote ATAC complex stability. Has also weak histone acetyltransferase activity toward histone H4. Required for the normal progression through G1 and G2/M phases of the cell cycle. NA NA HATs acetylate histones PE1 20 +NX_Q9H8G1 Zinc finger protein 430 570 66319 8.94 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9H8G2 Caspase activity and apoptosis inhibitor 1 361 38368 4.63 0 Cytoplasmic vesicle NA Anti-apoptotic protein that modulates a caspase-10 dependent mitochondrial caspase-3/9 feedback amplification loop. NA NA NA PE1 9 +NX_Q9H8H0 Nucleolar protein 11 719 81124 5.74 0 Nucleolus NA Ribosome biogenesis factor. May be required for both optimal rDNA transcription and small subunit (SSU) pre-rRNA processing at sites A', A0, 1 and 2b. NA NA rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 17 +NX_Q9H8H2 Probable ATP-dependent RNA helicase DDX31 851 94087 10.01 0 Golgi apparatus;Nucleolus;Cytoplasmic vesicle NA Probable ATP-dependent RNA helicase (By similarity). Plays a role in ribosome biogenesis and TP53/p53 regulation through its interaction with NPM1 (PubMed:23019224). NA Belongs to the DEAD box helicase family. DDX31/DBP7 subfamily. NA PE1 9 +NX_Q9H8H3 Methyltransferase-like protein 7A 244 28319 8.7 0 Membrane;Endoplasmic reticulum;Lipid droplet NA Probable methyltransferase. NA Belongs to the methyltransferase superfamily. Neutrophil degranulation PE1 12 +NX_Q9H8J5 MANSC domain-containing protein 1 431 46810 6.09 1 Membrane;Cytoplasmic vesicle;Golgi apparatus NA NA NA NA NA PE1 12 +NX_Q9H8K7 Uncharacterized protein C10orf88 445 49249 5.85 0 NA NA NA NA NA NA PE1 10 +NX_Q9H8L6 Multimerin-2 949 104409 5.56 0 Cytoplasmic vesicle;Extracellular matrix NA Inhibits endothelial cells motility and acts as a negative regulator of angiogenesis; it downregulates KDR activation by binding VEGFA. N- and O-glycosylated. NA NA PE1 10 +NX_Q9H8M1 Coenzyme Q-binding protein COQ10 homolog B, mitochondrial 238 27071 9.67 0 Cytosol;Mitochondrion inner membrane NA Required for the function of coenzyme Q in the respiratory chain. May serve as a chaperone or may be involved in the transport of Q6 from its site of synthesis to the catalytic sites of the respiratory complexes (By similarity). NA Belongs to the COQ10 family. Respiratory electron transport PE1 2 +NX_Q9H8M2 Bromodomain-containing protein 9 597 67000 5.81 0 Nucleoplasm NA Plays a role in chromatin remodeling and regulation of transcription (PubMed:22464331, PubMed:26365797). Acts as a chromatin reader that recognizes and binds acylated histones: binds histones that are acetylated and/or butyrylated (PubMed:26365797). Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:29374058). NA NA NA PE1 5 +NX_Q9H8M5 Metal transporter CNNM2 875 96623 6 3 Cytoplasmic vesicle;Cell membrane Hypomagnesemia 6;Hypomagnesemia, seizures, and mental retardation 1 Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) (By similarity). NA Belongs to the ACDP family. NA PE1 10 +NX_Q9H8M7 Ubiquitin carboxyl-terminal hydrolase MINDY-3 445 49725 4.69 0 Nucleoplasm;Nucleus membrane;Nucleus NA Hydrolase that can remove 'Lys-48'-linked conjugated ubiquitin from proteins. NA Belongs to the MINDY deubiquitinase family. FAM188 subfamily. NA PE1 10 +NX_Q9H8M9 Protein eva-1 homolog A 152 17470 6.44 1 Cytoplasmic vesicle;Lysosome membrane;Endoplasmic reticulum membrane;Cell membrane NA Acts as a regulator of programmed cell death, mediating both autophagy and apoptosis. NA Belongs to the EVA1 family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 2 +NX_Q9H8N7 Zinc finger protein 395 513 54939 7.17 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Plays a role in papillomavirus genes transcription. NA NA NA PE1 8 +NX_Q9H8P0 Polyprenol reductase 318 36521 9.49 6 Cytosol;Endoplasmic reticulum membrane;Cell membrane Kahrizi syndrome;Congenital disorder of glycosylation 1Q Plays a key role in early steps of protein N-linked glycosylation by being required for the conversion of polyprenol into dolichol. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation. Acts as a polyprenol reductase that promotes the reduction of the alpha-isoprene unit of polyprenols into dolichols in a NADP-dependent mechanism. Also able to convert testosterone (T) into 5-alpha-dihydrotestosterone (DHT). NA Belongs to the steroid 5-alpha reductase family. Polyprenol reductase subfamily. Protein modification; protein glycosylation.;Steroid hormone biosynthesis;Synthesis of Dolichyl-phosphate;Androgen biosynthesis;Defective SRD5A3 causes SRD5A3-CDG (CDG-1q) and KHRZ PE1 4 +NX_Q9H8Q6 Putative uncharacterized protein encoded by HEXA-AS1 139 16103 9.14 0 NA NA NA NA NA NA PE5 15 +NX_Q9H8S5 Cyclin N-terminal domain-containing protein 2 307 33574 8.96 0 NA NA NA NA NA NA PE2 19 +NX_Q9H8S9 MOB kinase activator 1A 216 25080 6.45 0 NA NA Activator of LATS1/2 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Stimulates the kinase activity of STK38 and STK38L. Acts cooperatively with STK3/MST2 to activate STK38. Phosphorylated by STK3/MST2 and STK4/MST1 and this phosphorylation enhances its binding to LATS1.;MOB1A is phosphorylated by STK3 Belongs to the MOB1/phocein family. Signaling by Hippo PE1 2 +NX_Q9H8T0 AKT-interacting protein 292 33128 9.34 0 Cytoplasm;Cell membrane NA Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Regulates apoptosis by enhancing phosphorylation and activation of AKT1. Increases release of TNFSF6 via the AKT1/GSK3B/NFATC1 signaling cascade. NA Belongs to the ubiquitin-conjugating enzyme family. FTS subfamily. NA PE1 16 +NX_Q9H8U3 AN1-type zinc finger protein 3 227 25184 7.43 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA NA NA NA NA PE1 6 +NX_Q9H8V3 Protein ECT2 914 103505 7.77 0 Cytoplasm;Nucleus;Cleavage furrow;Cell junction;Nucleoplasm;Tight junction;Cytosol;Spindle;Midbody NA Guanine nucleotide exchange factor (GEF) that catalyzes the exchange of GDP for GTP. Promotes guanine nucleotide exchange on the Rho family members of small GTPases, like RHOA, RHOC, RAC1 and CDC42. Required for signal transduction pathways involved in the regulation of cytokinesis. Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Regulates the translocation of RHOA from the central spindle to the equatorial region. Plays a role in the control of mitotic spindle assembly; regulates the activation of CDC42 in metaphase for the process of spindle fibers attachment to kinetochores before chromosome congression. Involved in the regulation of epithelial cell polarity; participates in the formation of epithelial tight junctions in a polarity complex PARD3-PARD6-protein kinase PRKCQ-dependent manner. Plays a role in the regulation of neurite outgrowth. Inhibits phenobarbital (PB)-induced NR1I3 nuclear translocation. Stimulates the activity of RAC1 through its association with the oncogenic PARD6A-PRKCI complex in cancer cells, thereby acting to coordinately drive tumor cell proliferation and invasion. Also stimulates genotoxic stress-induced RHOB activity in breast cancer cells leading to their cell death. Phosphorylated by PLK1 in vitro. Hyperphosphorylated during the G2 phase of the cell cycle. Phosphorylation at Thr-373 occurs during the G2/M phase, relieves its auto-inhibition status and stimulates its GEF activity. Phosphorylation at Thr-444 in G2/M phase is required for subsequent binding with PLK1 and Rho exchange activation. Dephosphorylated at the time of cytokinesis. Phosphorylation at Thr-359 is required for its transformation activity in cancer cells. NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 3 +NX_Q9H8V8 Putative uncharacterized protein FLJ13197 135 14815 11.93 0 NA NA NA NA NA NA PE5 4 +NX_Q9H8W2 Putative uncharacterized protein encoded by LINC00472 130 13851 12.08 0 NA NA NA NA NA NA PE5 6 +NX_Q9H8W3 Protein FAM204A 233 27021 7.69 0 Nucleoplasm;Nucleolus NA NA NA NA NA PE1 10 +NX_Q9H8W4 Pleckstrin homology domain-containing family F member 2 249 27798 8.55 0 Early endosome membrane;Endoplasmic reticulum;Endosome NA May play a role in early endosome fusion upstream of RAB5, hence regulating receptor trafficking and fluid-phase transport. Enhances cellular sensitivity to TNF-induced apoptosis (PubMed:18288467). NA NA NA PE1 8 +NX_Q9H8W5 Tripartite motif-containing protein 45 580 64359 8.26 0 Cytoplasm;Cytosol;Nucleus;Cytoskeleton NA May act as a transcriptional repressor in mitogen-activated protein kinase signaling pathway. NA Belongs to the TRIM/RBCC family. Interferon gamma signaling PE1 1 +NX_Q9H8X2 Inositol-pentakisphosphate 2-kinase 491 56017 8.67 0 Cytoplasm;Cytosol;Nucleus NA Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate). InsP6 is involved in many processes such as mRNA export, non-homologous end-joining, endocytosis, ion channel regulation. It also protects cells from TNF-alpha-induced apoptosis. NA Belongs to the IPK1 type 2 family. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of IPs in the nucleus;Synthesis of pyrophosphates in the cytosol PE1 9 +NX_Q9H8X3 Putative uncharacterized protein LINC00574 128 13648 8.17 0 NA NA NA NA NA NA PE5 6 +NX_Q9H8X9 Probable palmitoyltransferase ZDHHC11 412 45975 8.65 4 Membrane NA NA NA Belongs to the DHHC palmitoyltransferase family. NA PE1 5 +NX_Q9H8Y1 Vertnin 702 78260 9.17 0 Nucleoplasm NA NA NA Belongs to the vertnin family. NA PE1 14 +NX_Q9H8Y5 Ankyrin repeat and zinc finger domain-containing protein 1 726 80927 8.69 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Plays a role in the cellular response to hydrogen peroxide and in the maintenance of mitochondrial integrity under conditions of cellular stress (PubMed:28302725). Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway (By similarity). NA Belongs to the ANKZF1/VMS1 family. NA PE1 2 +NX_Q9H8Y8 Golgi reassembly-stacking protein 2 452 47145 4.73 0 Golgi apparatus;Endoplasmic reticulum membrane;Golgi apparatus membrane NA Plays a role in the assembly and membrane stacking of the Golgi cisternae, and in the process by which Golgi stacks reform after breakdown during mitosis and meiosis (PubMed:10487747, PubMed:21515684, PubMed:22523075). May regulate the intracellular transport and presentation of a defined set of transmembrane proteins, such as transmembrane TGFA (PubMed:11101516). Required for normal acrosome formation during spermiogenesis and normal male fertility, probably by promoting colocalization of JAM2 and JAM3 at contact sites between germ cells and Sertoli cells (By similarity). Mediates ER stress-induced unconventional (ER/Golgi-independent) trafficking of core-glycosylated CFTR to cell membrane (PubMed:21884936, PubMed:27062250, PubMed:28067262). Phosphorylated in mitotic cells (PubMed:11408587). ER stress-induced phosphorylation at Ser-441 induces monomerization and subsequent relocalization from Golgi to ER which is essential for mediating unconventional (ER/Golgi-independent) trafficking of CFTR to the cell membrane (PubMed:21884936, PubMed:27062250).;Myristoylated (PubMed:11101516). Myristoylation is essential for the Golgi targeting (By similarity).;Palmitoylated. Belongs to the GORASP family. Golgi Cisternae Pericentriolar Stack Reorganization PE1 2 +NX_Q9H900 Protein zwilch homolog 591 67214 5.85 0 Kinetochore NA Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex (PubMed:15824131). NA Belongs to the ZWILCH family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 15 +NX_Q9H902 Receptor expression-enhancing protein 1 201 22255 9.52 2 Mitochondrion membrane;Endoplasmic reticulum;Membrane Neuronopathy, distal hereditary motor, 5B;Spastic paraplegia 31, autosomal dominant Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton. May also enhance the cell surface expression of odorant receptors (PubMed:20200447). May play a role in long-term axonal maintenance (PubMed:24478229). NA Belongs to the DP1 family. Olfactory Signaling Pathway PE1 2 +NX_Q9H903 Probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 347 37315 9.38 0 Cytoplasm;Mitochondrion inner membrane NA NA NA Belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family. One-carbon metabolism; tetrahydrofolate interconversion.;One carbon pool by folate;Metabolic pathways;Metabolism of folate and pterines PE1 4 +NX_Q9H910 Jupiter microtubule associated homolog 2 190 20063 9.3 0 Cytoplasm;Cytosol;Nucleus;Cell membrane NA NA NA Belongs to the JUPITER family. NA PE1 16 +NX_Q9H920 RING finger protein 121 327 37882 6.6 6 Membrane;Nucleoplasm;Golgi apparatus;Cytoplasmic vesicle NA NA NA Belongs to the RNF121 family. NA PE1 11 +NX_Q9H930 Nuclear body protein SP140-like protein 580 67005 8.79 0 Nucleoplasm NA NA NA NA NA PE1 2 +NX_Q9H936 Mitochondrial glutamate carrier 1 323 34470 9.42 6 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion Epileptic encephalopathy, early infantile, 3 Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+). NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Organic anion transporters PE1 11 +NX_Q9H939 Proline-serine-threonine phosphatase-interacting protein 2 334 38858 8.72 0 Cytoplasm;Mitochondrion;Cell membrane;Membrane;Nucleoplasm NA Binds to F-actin. May be involved in regulation of the actin cytoskeleton (By similarity). Phosphorylated on tyrosine. NA NA PE1 18 +NX_Q9H944 Mediator of RNA polymerase II transcription subunit 20 212 23222 6.42 0 Nucleoplasm;Centrosome;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 20 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 6 +NX_Q9H963 Putative zinc finger protein 702 129 15019 9.39 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE5 19 +NX_Q9H967 WD repeat-containing protein 76 626 69769 9.35 0 Nucleus;Nucleolus NA Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC. NA Belongs to the WD repeat DDB2/WDR76 family. NA PE1 15 +NX_Q9H972 Uncharacterized protein C14orf93 538 58697 5.71 0 Nucleoplasm;Secreted;Cell membrane NA NA NA NA NA PE1 14 +NX_Q9H974 Queuine tRNA-ribosyltransferase accessory subunit 2 415 46713 6.36 0 Mitochondrion outer membrane;Cytoplasm;Nucleoplasm;Cytoskeleton NA Non-catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2-cyclopenten-1-yl)amino)methyl)-7-deazaguanosine). NA Belongs to the queuine tRNA-ribosyltransferase family. QTRT2 subfamily. tRNA modification in the nucleus and cytosol PE1 3 +NX_Q9H977 WD repeat-containing protein 54 334 35891 5.77 0 Cytoplasmic vesicle;Cytosol;Vesicle NA When cross-linked to form dimers and trimers, it has a regulatory effect on ERK signaling pathway activity in response to EGF stimulation. Colocalizes with the EGF receptor in WDR54-specific vesicle where it sustains the internalization and controls the degradation of the EGF receptor after EGF stimulation. Cross-linked to tightly form both dimers and trimers by TGM2. Cross-linking enhances the activation of EGF receptor-mediated signaling pathway (PubMed:30458214). Cross-linking is inhibited by EGF (PubMed:30458214).;Ubiquitinated. EGF increases ubiquitination. NA NA PE1 2 +NX_Q9H981 Actin-related protein 8 624 70484 7.86 0 Nucleoplasm;Centrosome;Nucleus;Chromosome NA Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Required for the recruitment of INO80 (and probably the INO80 complex) to sites of DNA damage. Strongly prefer nucleosomes and H3-H4 tetramers over H2A-H2B dimers, suggesting it may act as a nucleosome recognition module within the complex.;Plays an important role in the functional organization of mitotic chromosomes. Exhibits low basal ATPase activity, and unable to polymerize. NA Belongs to the actin family. ARP8 subfamily. DNA Damage Recognition in GG-NER;UCH proteinases PE1 3 +NX_Q9H987 Synaptopodin 2-like protein 977 102481 9.77 0 Cytosol;Cell junction;Nucleus speckle;Cytoskeleton NA Actin-associated protein that may play a role in modulating actin-based shape. NA Belongs to the synaptopodin family. NA PE1 10 +NX_Q9H992 E3 ubiquitin-protein ligase MARCH7 704 78051 6.32 0 Cytosol;Cell membrane NA E3 ubiquitin-protein ligase which may specifically enhance the E2 activity of HIP2. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates (PubMed:16868077). May be involved in T-cell proliferation by regulating LIF secretion (By similarity). May play a role in lysosome homeostasis (PubMed:31270356). NA NA Protein modification; protein ubiquitination. PE1 2 +NX_Q9H993 Damage-control phosphatase ARMT1 441 51172 5.48 0 Nucleoplasm;Cytosol;Nucleus NA Metal-dependent phosphatase that shows phosphatase activity against several substrates, including fructose-1-phosphate and fructose-6-phosphate (By similarity). Its preference for fructose-1-phosphate, a strong glycating agent that causes DNA damage rather than a canonical yeast metabolite, suggests a damage-control function in hexose phosphate metabolism (By similarity). Has also been shown to have O-methyltransferase activity that methylates glutamate residues of target proteins to form gamma-glutamyl methyl ester residues (PubMed:25732820). Possibly methylates PCNA, suggesting it is involved in the DNA damage response (PubMed:25732820). Automethylated. Belongs to the damage-control phosphatase family. Sugar phosphate phosphatase III subfamily. NA PE1 6 +NX_Q9H999 Pantothenate kinase 3 370 41094 6.13 0 Golgi apparatus;Nucleoplasm;Cytoplasm NA Plays a role in the physiological regulation of the intracellular CoA concentration. NA Belongs to the type II pantothenate kinase family. Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 1/5.;Pantothenate and CoA biosynthesis;Metabolic pathways;Coenzyme A biosynthesis PE1 5 +NX_Q9H9A5 CCR4-NOT transcription complex subunit 10 744 82310 7.95 0 Cytoplasm;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Is not required for association of CNOT7 to the CCR4-NOT complex. NA Belongs to the CNOT10 family. RNA degradation;Deadenylation of mRNA;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 3 +NX_Q9H9A6 Leucine-rich repeat-containing protein 40 602 68250 6.04 0 Nucleolus NA NA NA NA NA PE1 1 +NX_Q9H9A7 RecQ-mediated genome instability protein 1 625 70144 4.86 0 Nucleoplasm;Nucleus NA Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to double Holliday junctions (DHJ) and hence stimulates TOP3A-mediated dissolution. Required for BLM phosphorylation during mitosis. Within the BLM complex, required for BLM and TOP3A stability. NA Belongs to the RMI1 family. Fanconi anemia pathway;G2/M DNA damage checkpoint;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Regulation of TP53 Activity through Phosphorylation PE1 9 +NX_Q9H9B1 Histone-lysine N-methyltransferase EHMT1 1298 141466 5.5 0 Nucleoplasm;Nucleus;Chromosome Kleefstra syndrome 1 Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. During G0 phase, it probably contributes to silencing of MYC- and E2F-responsive genes, suggesting a role in G0/G1 transition in cell cycle. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Lysine degradation;PKMTs methylate histone lysines;Senescence-Associated Secretory Phenotype (SASP);Regulation of TP53 Activity through Methylation;Transcriptional Regulation by E2F6 PE1 9 +NX_Q9H9B4 Sideroflexin-1 322 35619 9.22 5 Mitochondrion inner membrane;Mitochondrion NA Mitochondrial serine transporter that mediates transport of serine into mitochondria, an important step of the one-carbon metabolism pathway (PubMed:30442778). Mitochondrial serine is converted to glycine and formate, which then exits to the cytosol where it is used to generate the charged folates that serve as one-carbon donors (PubMed:30442778). Transports both D-serine and L-serine (PubMed:30442778). Also able to transport other amino-acids, such as alanine (PubMed:30442778). May be indirectly involved in the transport of a component required for iron utilization into or out of the mitochondria (By similarity). NA Belongs to the sideroflexin family. NA PE1 5 +NX_Q9H9C1 Spermatogenesis-defective protein 39 homolog 493 57005 6.94 0 Cytoplasm;Recycling endosome;Early endosome;Late endosome;Cytoplasmic vesicle Arthrogryposis, renal dysfunction and cholestasis syndrome 2 Proposed to be involved in endosomal maturation implicating in part VPS33B. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical RAB11A-dependent recycling pathway and in the maintenance of the apical-basolateral polarity (PubMed:20190753). May play a role in lysosomal trafficking, probably via association with the core HOPS complex in a discrete population of endosomes; the functions seems to be indepenedent of VPS33B (PubMed:19109425). May play a role in vesicular trafficking during spermatogenesis (By similarity). May be involved in direct or indirect transcriptional regulation of E-cadherin (By similarity). NA Belongs to the SPE39 family. NA PE1 14 +NX_Q9H9D4 Zinc finger protein 408 720 78439 6.88 0 Cytosol;Centriolar satellite;Nucleus Vitreoretinopathy, exudative 6;Retinitis pigmentosa 72 May be involved in transcriptional regulation. NA NA NA PE1 11 +NX_Q9H9E1 Ankyrin repeat family A protein 2 313 34272 4.99 0 Cell membrane;Cell junction;Membrane;Nucleoplasm;Cytoskeleton NA May regulate the interaction between the 3M complex and the histone deacetylases HDAC4 and HDAC5 (PubMed:25752541). May also regulate LRP2/megalin (By similarity). ANKRA2 is phosphorylated by NEK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA NA PE1 5 +NX_Q9H9E3 Conserved oligomeric Golgi complex subunit 4 785 89083 5.09 0 Golgi apparatus;Cytoplasmic vesicle;Cytosol;Golgi apparatus membrane Congenital disorder of glycosylation 2J;Saul-Wilson syndrome Required for normal Golgi function (PubMed:19536132, PubMed:30290151). Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1 (PubMed:19536132). NA Belongs to the COG4 family. Intra-Golgi traffic;COPI-mediated anterograde transport;Retrograde transport at the Trans-Golgi-Network PE1 16 +NX_Q9H9F9 Actin-related protein 5 607 68297 5.17 0 Cytoplasm;Nucleus NA Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Involved in DNA double-strand break repair and UV-damage excision repair. NA Belongs to the actin family. ARP5 subfamily. DNA Damage Recognition in GG-NER;UCH proteinases PE1 20 +NX_Q9H9G7 Protein argonaute-3 860 97360 9.26 0 Nucleoplasm;Cytosol;P-body NA Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Proposed to be involved in stabilization of small RNA derivates (riRNA) derived from processed RNA polymerase III-transcribed Alu repeats containing a DR2 retinoic acid response element (RARE) in stem cells and in the subsequent riRNA-dependent degradation of a subset of RNA polymerase II-transcribed coding mRNAs by recruiting a mRNA decapping complex involving EDC4. Possesses RNA slicer activity but only on select RNAs bearing 5'- and 3'-flanking sequences to the region of guide-target complementarity (PubMed:29040713). NA Belongs to the argonaute family. Ago subfamily. MAPK6/MAPK4 signaling;Oxidative Stress Induced Senescence;MicroRNA (miRNA) biogenesis;Pre-NOTCH Transcription and Translation;Small interfering RNA (siRNA) biogenesis;TP53 Regulates Metabolic Genes;Ca2+ pathway;Post-transcriptional silencing by small RNAs;Oncogene Induced Senescence;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Regulation of RUNX1 Expression and Activity;Regulation of PTEN mRNA translation;Competing endogenous RNAs (ceRNAs) regulate PTEN translation;Estrogen-dependent gene expression;Transcriptional Regulation by MECP2;Regulation of MECP2 expression and activity PE1 1 +NX_Q9H9H4 Vacuolar protein sorting-associated protein 37B 285 31307 6.78 0 Late endosome membrane NA Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation. NA Belongs to the VPS37 family. Endocytosis;Budding and maturation of HIV virion;Membrane binding and targetting of GAG proteins;Endosomal Sorting Complex Required For Transport (ESCRT);Microautophagy PE1 12 +NX_Q9H9H5 MAP6 domain-containing protein 1 199 21005 10.08 0 Golgi apparatus;Cytosol;Cytoskeleton NA May have microtubule-stabilizing activity. Palmitoylated. Palmitoylation enhances association with microtubules. Belongs to the STOP family. NA PE1 3 +NX_Q9H9J2 39S ribosomal protein L44, mitochondrial 332 37535 8.65 0 Nucleoplasm;Mitochondrion;Cell membrane Combined oxidative phosphorylation deficiency 16 Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome. NA Belongs to the ribonuclease III family. Mitochondrion-specific ribosomal protein mL44 subfamily. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 2 +NX_Q9H9J4 Ubiquitin carboxyl-terminal hydrolase 42 1324 145392 8.87 0 Nucleoplasm NA Deubiquitinating enzyme which may play an important role during spermatogenesis. NA Belongs to the peptidase C19 family. Ub-specific processing proteases PE1 7 +NX_Q9H9K5 Endogenous retroviral envelope protein HEMO 563 63547 8.16 1 Nucleoplasm;Cytosol;Secreted;Cell membrane NA Endogenous envelope proteins originate from retroviral envelope proteins, which mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. N-glycosylated.;Endogenous retroviral envelope protein HEMO: Cleaved by some metalloproteinase at 432-Gln-Arg-433 (mainly) or 433-Arg-Gln-434, leading to release the secreted form (Endogenous retroviral envelope protein HEMO, secreted form) in the extracellular medium. Belongs to the gamma type-C retroviral envelope protein family. NA PE1 4 +NX_Q9H9L3 Interferon-stimulated 20 kDa exonuclease-like 2 353 39154 9.94 0 Nucleoplasm;Nucleolus NA 3'-> 5'-exoribonuclease involved in ribosome biogenesis in the processing of the 12S pre-rRNA. Displays a strong specificity for a 3'-end containing a free hydroxyl group. NA NA Major pathway of rRNA processing in the nucleolus and cytosol PE1 1 +NX_Q9H9L4 KAT8 regulatory NSL complex subunit 2 492 55042 6.18 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription. NA NA HATs acetylate histones PE1 12 +NX_Q9H9L7 Akirin-1 192 21867 8.91 0 Nucleoplasm;Nucleus membrane;Nucleus NA Functions as signal transducer for MSTN during skeletal muscle regeneration and myogenesis. May regulate chemotaxis of both macrophages and myoblasts by reorganising actin cytoskeleton, leading to more efficient lamellipodia formation via a PI3 kinase dependent pathway. NA Belongs to the akirin family. NA PE1 1 +NX_Q9H9P2 Chondrolectin 273 30431 6.38 1 Membrane;Cytoplasm;Endoplasmic reticulum membrane;Endoplasmic reticulum NA May play a role in the development of the nervous system such as in neurite outgrowth and elongation. May be involved in motor axon growth and guidance. N-glycosylated. NA NA PE1 21 +NX_Q9H9P5 Putative E3 ubiquitin-protein ligase UNKL 680 73828 8.42 0 Cytoplasm;Cytosol;Nucleus NA May participate in a protein complex showing an E3 ligase activity regulated by RAC1. Ubiquitination is directed towards itself and possibly other substrates, such as SMARCD2/BAF60b. Intrinsic E3 ligase activity has not been proven. Is ubiquitinated in the C-terminal. Ubiquitination is enhanced by activated RAC1. The presence of the RING finger domain is not essential for ubiquitination to occur. Belongs to the unkempt family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 16 +NX_Q9H9P8 L-2-hydroxyglutarate dehydrogenase, mitochondrial 463 50316 8.45 0 Mitochondrion L-2-hydroxyglutaric aciduria NA NA Belongs to the L2HGDH family. Butanoate metabolism;Interconversion of 2-oxoglutarate and 2-hydroxyglutarate PE1 14 +NX_Q9H9Q2 COP9 signalosome complex subunit 7b 264 29622 5.83 0 Cytoplasm;Nucleoplasm;Nucleus NA Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, JUN, I-kappa-B-alpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. NA Belongs to the CSN7/EIF3M family. CSN7 subfamily. Formation of TC-NER Pre-Incision Complex;DNA Damage Recognition in GG-NER;Cargo recognition for clathrin-mediated endocytosis;Neddylation PE1 2 +NX_Q9H9Q4 Non-homologous end-joining factor 1 299 33337 5.65 0 Nucleoplasm;Nucleolus;Nucleus Severe combined immunodeficiency due to NHEJ1 deficiency DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are noncomplementary or partially complementary (PubMed:16439204, PubMed:16439205, PubMed:17470781). Binds DNA in a length-dependent manner (PubMed:17317666). NA Belongs to the XLF family. Nonhomologous End-Joining (NHEJ) PE1 2 +NX_Q9H9R9 Dysbindin domain-containing protein 1 158 17042 4.26 0 Cytosol;Nucleus speckle NA NA NA Belongs to the dysbindin family. NA PE1 16 +NX_Q9H9S0 Homeobox protein NANOG 305 34620 6.32 0 Nucleus NA Transcription regulator involved in inner cell mass and embryonic stem (ES) cells proliferation and self-renewal. Imposes pluripotency on ES cells and prevents their differentiation towards extraembryonic endoderm and trophectoderm lineages. Blocks bone morphogenetic protein-induced mesoderm differentiation of ES cells by physically interacting with SMAD1 and interfering with the recruitment of coactivators to the active SMAD transcriptional complexes. Acts as a transcriptional activator or repressor. Binds optimally to the DNA consensus sequence 5'-TAAT[GT][GT]-3' or 5'-[CG][GA][CG]C[GC]ATTAN[GC]-3'. Binds to the POU5F1/OCT4 promoter (PubMed:25825768). Able to autorepress its expression in differentiating (ES) cells: binds to its own promoter following interaction with ZNF281/ZFP281, leading to recruitment of the NuRD complex and subsequent repression of expression. When overexpressed, promotes cells to enter into S phase and proliferation. NANOG is phosphorylated by PRKCE (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the Nanog homeobox family. Transcriptional regulation of pluripotent stem cells;POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation;POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation;Interleukin-4 and Interleukin-13 signaling PE1 12 +NX_Q9H9S3 Protein transport protein Sec61 subunit alpha isoform 2 476 52248 8.31 10 Endoplasmic reticulum membrane NA Appears to play a crucial role in the insertion of secretory and membrane polypeptides into the ER. It is required for assembly of membrane and secretory proteins. Found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins (By similarity). NA Belongs to the SecY/SEC61-alpha family. Protein export;Protein processing in endoplasmic reticulum;Phagosome;Vibrio cholerae infection;ER-Phagosome pathway;SRP-dependent cotranslational protein targeting to membrane PE1 10 +NX_Q9H9S4 Calcium-binding protein 39-like 337 39088 8.49 0 Cytoplasmic vesicle NA Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1 (By similarity). NA Belongs to the Mo25 family. mTOR signaling pathway;Energy dependent regulation of mTOR by LKB1-AMPK PE1 13 +NX_Q9H9S5 Fukutin-related protein 495 54568 7.05 1 Golgi apparatus;Cytoplasm;Secreted;Rough endoplasmic reticulum;Nucleoplasm;Golgi apparatus membrane;Cytosol;Sarcolemma Muscular dystrophy-dystroglycanopathy limb-girdle C5;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5;Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 Catalyzes the transfer of CDP-ribitol to ribitol 5-phosphate previously attached by FKTN/fukutin of to the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:25279699, PubMed:26923585, PubMed:29477842). This constitutes the second step in the formation of the ribose 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:25279699, PubMed:26923585, PubMed:29477842). N-glycosylated. Belongs to the LicD transferase family. Protein modification; protein glycosylation. PE1 19 +NX_Q9H9T3 Elongator complex protein 3 547 62259 9.04 0 Cytoplasm;Cytosol;Nucleus Amyotrophic lateral sclerosis Catalytic tRNA acetyltransferase subunit of the RNA polymerase II elongator complex, which is a component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation (PubMed:11714725, PubMed:11818576, PubMed:15902492, PubMed:16713582). The elongator complex is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29415125). In the elongator complex, acts as a tRNA uridine(34) acetyltransferase by mediating formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (By similarity). May also act as a protein lysine acetyltransferase by mediating acetylation of target proteins; such activity is however unclear in vivo and recent evidences suggest that ELP3 primarily acts as a tRNA acetyltransferase (PubMed:29415125). Involved in neurogenesis: regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (PubMed:19185337). Required for acetylation of GJA1 in the developing cerebral cortex (By similarity). NA Belongs to the ELP3 family. tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis.;HATs acetylate histones PE1 8 +NX_Q9H9V4 RING finger protein 122 155 17475 8.21 1 Endoplasmic reticulum;Golgi apparatus;Membrane NA May induce necrosis and apoptosis. May play a role in cell viability. NA NA NA PE1 8 +NX_Q9H9V9 2-oxoglutarate and iron-dependent oxygenase JMJD4 463 52493 5.79 0 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA Catalyzes the 2-oxoglutarate and iron-dependent C4-lysyl hydroxylation of ETF1 at 'Lys-63' thereby promoting the translational termination efficiency of ETF1. NA NA NA PE1 1 +NX_Q9H9Y2 Ribosome production factor 1 349 40111 10.01 0 Nucleolus NA May be required for ribosome biogenesis. NA NA NA PE1 1 +NX_Q9H9Y4 GPN-loop GTPase 2 310 34561 5.07 0 NA NA Small GTPase required for proper localization of RNA polymerase II and III (RNAPII and RNAPIII). May act at an RNAP assembly step prior to nuclear import. NA Belongs to the GPN-loop GTPase family. NA PE1 1 +NX_Q9H9Y6 DNA-directed RNA polymerase I subunit RPA2 1135 128229 8.07 0 Cytosol;Nucleolus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol I is composed of mobile elements and RPA2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity). NA Belongs to the RNA polymerase beta chain family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;B-WICH complex positively regulates rRNA expression PE1 2 +NX_Q9H9Z2 Protein lin-28 homolog A 209 22743 8.35 0 Cytoplasm;Stress granule;Nucleolus;Rough endoplasmic reticulum;P-body;Cytosol NA RNA-binding protein that inhibits processing of pre-let-7 miRNAs and regulates translation of mRNAs that control developmental timing, pluripotency and metabolism (PubMed:21247876). Seems to recognize a common structural G-quartet (G4) feature in its miRNA and mRNA targets (Probable). 'Translational enhancer' that drives specific mRNAs to polysomes and increases the efficiency of protein synthesis. Its association with the translational machinery and target mRNAs results in an increased number of initiation events per molecule of mRNA and, indirectly, in mRNA stabilization. Binds IGF2 mRNA, MYOD1 mRNA, ARBP/36B4 ribosomal protein mRNA and its own mRNA. Essential for skeletal muscle differentiation program through the translational up-regulation of IGF2 expression. Suppressor of microRNA (miRNA) biogenesis, including that of let-7, miR107, miR-143 and miR-200c. Specifically binds the miRNA precursors (pre-miRNAs), recognizing an 5'-GGAG-3' motif found in pre-miRNA terminal loop, and recruits TUT4 AND tut7 uridylyltransferaseS. This results in the terminal uridylation of target pre-miRNAs. Uridylated pre-miRNAs fail to be processed by Dicer and undergo degradation. The repression of let-7 expression is required for normal development and contributes to maintain the pluripotent state by preventing let-7-mediated differentiation of embryonic stem cells (PubMed:18951094, PubMed:19703396, PubMed:22118463, PubMed:22898984). Localized to the periendoplasmic reticulum area, binds to a large number of spliced mRNAs and inhibits the translation of mRNAs destined for the ER, reducing the synthesis of transmembrane proteins, ER or Golgi lumen proteins, and secretory proteins. Binds to and enhances the translation of mRNAs for several metabolic enzymes, such as PFKP, PDHA1 or SDHA, increasing glycolysis and oxidative phosphorylation. Which, with the let-7 repression may enhance tissue repair in adult tissue (By similarity). NA Belongs to the lin-28 family. Transcriptional regulation of pluripotent stem cells PE1 1 +NX_Q9HA38 Zinc finger matrin-type protein 3 289 32059 9.12 0 Nucleoplasm;Nucleus;Nucleolus NA Acts as a bona fide target gene of p53/TP53. May play a role in the TP53-dependent growth regulatory pathway. May contribute to TP53-mediated apoptosis by regulation of TP53 expression and translocation to the nucleus and nucleolus. NA NA NA PE1 3 +NX_Q9HA47 Uridine-cytidine kinase 1 277 31435 6.8 0 Nucleoplasm NA Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4-thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)-benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5-methylcytidine, and N(4)-anisoylcytidine. NA Belongs to the uridine kinase family. Pyrimidine metabolism; CTP biosynthesis via salvage pathway; CTP from cytidine: step 1/3.;Pyrimidine metabolism; UMP biosynthesis via salvage pathway; UMP from uridine: step 1/1.;Pyrimidine metabolism;Drug metabolism - other enzymes;Metabolic pathways;Pyrimidine salvage PE1 9 +NX_Q9HA64 Ketosamine-3-kinase 309 34412 6.84 0 Cytoplasm;Nucleoplasm NA Ketosamine-3-kinase involved in protein deglycation by mediating phosphorylation of ribuloselysine and psicoselysine on glycated proteins, to generate ribuloselysine-3 phosphate and psicoselysine-3 phosphate, respectively (PubMed:14633848, PubMed:15137908). Ribuloselysine-3 phosphate and psicoselysine-3 phosphate adducts are unstable and decompose under physiological conditions (PubMed:14633848, PubMed:15137908). Not able to phosphorylate fructoselysine (PubMed:14633848). NA Belongs to the fructosamine kinase family. Gamma carboxylation, hypusine formation and arylsulfatase activation PE1 17 +NX_Q9HA65 TBC1 domain family member 17 648 72728 5.05 0 Autophagosome NA Probable GTPase-activating protein for Rab8; its transient association with Rab8 is mediated by OPTN. Inhibits Rab8-mediated endocytic trafficking, such as of transferrin receptor (TfR) and reduces Rab8 recruitnment to tubules emanating from the endocytic recycling compartment (ERC). Involved in regulation of autophagy. Mediates inhibition of autophagy caused by the OPTN variant GLC1E LYS-50; the function requires its catalytic activity, however, the involved Rab is not known. NA NA TBC/RABGAPs PE1 19 +NX_Q9HA72 Calcium homeostasis modulator protein 2 323 36175 7.61 4 Membrane;Nucleoplasm;Cytosol;Mitochondrion NA Pore-forming subunit of a voltage-gated ion channel. NA Belongs to the CALHM family. NA PE1 10 +NX_Q9HA77 Probable cysteine--tRNA ligase, mitochondrial 564 62224 8.58 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion Combined oxidative phosphorylation deficiency 27 NA NA Belongs to the class-I aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation PE1 13 +NX_Q9HA82 Ceramide synthase 4 394 46399 9.19 6 Endoplasmic reticulum;Nucleoplasm;Endoplasmic reticulum membrane;Cytoplasmic vesicle NA Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward long and very-long chains (C18:0-C22:0) as acyl donor. Phosphorylated at the C-terminus by CK2.;N-glycosylated. NA Lipid metabolism; sphingolipid metabolism.;Sphingolipid de novo biosynthesis PE1 19 +NX_Q9HA90 EF-hand and coiled-coil domain-containing protein 1 598 65701 5.44 0 NA NA NA NA NA NA PE1 3 +NX_Q9HA92 Radical S-adenosyl methionine domain-containing protein 1, mitochondrial 442 48714 7.7 0 Nucleoplasm;Cytosol;Mitochondrion;Cell membrane NA May be a heme chaperone, appears to bind heme. Homologous bacterial proteins do not have oxygen-independent coproporphyrinogen-III oxidase activity (Probable). Binds 1 [4Fe-4S] cluster. The cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine (By similarity). NA Belongs to the anaerobic coproporphyrinogen-III oxidase family. HemW subfamily. NA PE1 17 +NX_Q9HAA7 Putative uncharacterized protein FLJ11871 133 14475 9.61 0 NA NA NA NA NA NA PE5 21 +NX_Q9HAB3 Solute carrier family 52, riboflavin transporter, member 2 445 45777 6.73 11 Cell membrane Brown-Vialetto-Van Laere syndrome 2 Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:20463145, PubMed:22864630, PubMed:23243084, PubMed:24253200, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145). May also act as a receptor for 4-hydroxybutyrate (Probable).;(Microbial infection) In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A). NA Belongs to the riboflavin transporter family. Vitamin B2 (riboflavin) metabolism PE1 8 +NX_Q9HAB8 Phosphopantothenate--cysteine ligase 311 34005 6.26 0 Nucleoplasm;Mitochondrion;Nucleolus Cardiomyopathy, dilated 2C Catalyzes the second step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated to 4'-phosphopantothenate to form 4-phosphopantothenoylcysteine (PubMed:11923312, PubMed:12906824, PubMed:29754768). Has a preference for ATP over CTP as a cosubstrate (PubMed:11923312). NA Belongs to the PPC synthetase family. Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 2/5.;Pantothenate and CoA biosynthesis;Metabolic pathways;Coenzyme A biosynthesis PE1 1 +NX_Q9HAC7 Succinate--hydroxymethylglutarate CoA-transferase 445 48462 8.54 0 Mitochondrion Glutaric aciduria 3 Catalyzes the succinyl-CoA-dependent conversion of glutarate to glutaryl-CoA. Can use different dicarboxylic acids as CoA acceptors, the preferred ones are glutarate, succinate, adipate, and 3-hydroxymethylglutarate. NA Belongs to the CoA-transferase III family. NA PE1 7 +NX_Q9HAC8 Ubiquitin domain-containing protein 1 227 25938 7.69 0 Cytoplasmic vesicle;Cytosol;Cell membrane NA May be involved in the regulation of cellular senescence through a positive feedback loop with TP53. Is a TP53 downstream target gene that increases the stability of TP53 protein by promoting the ubiquitination and degradation of MDM2. NA NA NA PE1 10 +NX_Q9HAD4 WD repeat-containing protein 41 459 51728 5.25 0 Golgi apparatus;Nucleoplasm;Cytosol;Cytoplasm NA Non-catalytic component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:27103069). The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity (PubMed:27103069, PubMed:27617292). NA NA NA PE1 5 +NX_Q9HAE3 EF-hand calcium-binding domain-containing protein 1 211 24488 4.91 0 Nucleoplasm;Cell membrane NA NA NA NA NA PE1 8 +NX_Q9HAF1 Chromatin modification-related protein MEAF6 191 21635 9.32 0 Nucleolus;Kinetochore NA Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. NA Belongs to the EAF6 family. HATs acetylate histones;Regulation of TP53 Activity through Acetylation PE1 1 +NX_Q9HAH1 Zinc finger protein 556 456 51581 9.94 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9HAH7 Probable fibrosin-1 460 48388 9.96 0 Nucleoplasm NA NA NA NA NA PE1 16 +NX_Q9HAI6 Protein CXorf21 301 33894 4.94 0 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm;Nucleus NA Plays a role in the regulation of endolysosomal pH in immune cells such as B-cells, dendritic cells and monocytes. May be involved in endolysosomal-dependent immune responses. NA NA NA PE1 X +NX_Q9HAJ7 Histone deacetylase complex subunit SAP30L 183 20877 9.43 0 Nucleolus NA Functions as transcription repressor; isoform 2 has lower transcription repressor activity than isoform 1 and isoform 3.;Functions as transcription repressor, probably via its interaction with histone deacetylase complexes (PubMed:16820529, PubMed:18070604). Involved in the functional recruitment of the class 1 Sin3-histone deacetylase complex (HDAC) to the nucleolus (PubMed:16820529). Binds DNA, apparently without sequence-specificity, and bends bound double-stranded DNA (PubMed:19015240). Binds phosphoinositol phosphates (phosphoinositol 3-phosphate, phosphoinositol 4-phosphate and phosphoinositol 5-phosphate) via the same basic sequence motif that mediates DNA binding and nuclear import (PubMed:19015240, PubMed:26609676).;Functions as transcription repressor; its activity is marginally lower than that of isoform 1. NA Belongs to the SAP30 family. NoRC negatively regulates rRNA expression;HDACs deacetylate histones PE1 5 +NX_Q9HAK2 Transcription factor COE2 575 62650 9.21 0 Nucleus NA Transcription factor that, in osteoblasts, activates the decoy receptor for RANKL, TNFRSF11B, which in turn regulates osteoclast differentiation. Acts in synergy with the Wnt-responsive LEF1/CTNNB1 pathway. Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3' (By similarity). NA Belongs to the COE family. NA PE1 8 +NX_Q9HAN9 Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 279 31932 8.98 0 Nucleoplasm;Nucleus Leber congenital amaurosis 9 Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP (PubMed:17402747). Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency (PubMed:17402747). Can use triazofurin monophosphate (TrMP) as substrate (PubMed:17402747). Also catalyzes the reverse reaction, i.e. The pyrophosphorolytic cleavage of NAD(+) (PubMed:17402747). For the pyrophosphorolytic activity, prefers NAD(+) and NaAD as substrates and degrades NADH, nicotinic acid adenine dinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less effectively (PubMed:17402747). Involved in the synthesis of ATP in the nucleus, together with PARP1, PARG and NUDT5 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+) (PubMed:17402747). Protects against axonal degeneration following mechanical or toxic insults (By similarity). NA Belongs to the eukaryotic NMN adenylyltransferase family. Cofactor biosynthesis; NAD(+) biosynthesis; deamido-NAD(+) from nicotinate D-ribonucleotide: step 1/1.;Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from nicotinamide D-ribonucleotide: step 1/1.;Nicotinate and nicotinamide metabolism;Metabolic pathways;Nicotinate metabolism PE1 1 +NX_Q9HAP2 MLX-interacting protein 919 101185 8.61 0 Mitochondrion outer membrane;Cytoplasm;Nucleus NA Binds DNA as a heterodimer with MLX and activates transcription. Binds to the canonical E box sequence 5'-CACGTG-3'. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation. NA NA NA PE1 12 +NX_Q9HAP6 Protein lin-7 homolog B 207 22896 8.71 0 Cell membrane;Basolateral cell membrane;Cell junction;Tight junction;Postsynaptic density membrane NA Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells. May increase the amplitude of ASIC3 acid-evoked currents by stabilizing the channel at the cell surface (By similarity). NA Belongs to the lin-7 family. RHO GTPases Activate Rhotekin and Rhophilins;Dopamine Neurotransmitter Release Cycle;Neurexins and neuroligins;Assembly and cell surface presentation of NMDA receptors PE1 19 +NX_Q9HAQ2 Kinesin-like protein KIF9 790 89986 6.71 0 Cytoskeleton NA NA NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 3 +NX_Q9HAR2 Adhesion G protein-coupled receptor L3 1447 161812 5.99 7 Cell junction;Axon;Cell membrane NA Plays a role in cell-cell adhesion and neuron guidance via its interactions with FLRT2 and FLRT3 that are expressed at the surface of adjacent cells (PubMed:26235030). Plays a role in the development of glutamatergic synapses in the cortex. Important in determining the connectivity rates between the principal neurons in the cortex. O-glycosylated (major) and N-glycosylated.;Proteolytically cleaved into 2 subunits, an extracellular subunit and a seven-transmembrane subunit. Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. NA PE1 4 +NX_Q9HAS0 Protein Njmu-R1 396 44622 4.98 0 trans-Golgi network;Cytoplasmic vesicle;Cytosol;Golgi apparatus NA As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865). May have a role in spermatogenesis. NA NA NA PE1 17 +NX_Q9HAS3 Solute carrier family 28 member 3 691 76930 7.56 13 Endoplasmic reticulum membrane;Cell membrane NA Sodium-dependent, pyrimidine- and purine-selective. Involved in the homeostasis of endogenous nucleosides. Exhibits the transport characteristics of the nucleoside transport system cib or N3 subtype (N3/cib) (with marked transport of both thymidine and inosine). Employs a 2:1 sodium/nucleoside ratio. Also able to transport gemcitabine, 3'-azido-3'-deoxythymidine (AZT), ribavirin and 3-deazauridine. NA Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family. Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane PE1 9 +NX_Q9HAT0 Ropporin-1A 212 23893 5.52 0 Flagellum NA Important for male fertility. With ROPN1L, involved in fibrous sheath integrity and sperm motility, plays a role in PKA-dependent signaling processes required for spermatozoa capacitation. Sumoylated, sumoylation decreases upon spermatozoa capacitation conditions. Belongs to the ropporin family. RHO GTPases Activate Rhotekin and Rhophilins PE1 3 +NX_Q9HAT1 Protein ERGIC-53-like 526 57129 7.73 1 Endoplasmic reticulum-Golgi intermediate compartment membrane NA NA NA NA Protein processing in endoplasmic reticulum;COPII-mediated vesicle transport;Cargo concentration in the ER PE2 15 +NX_Q9HAT2 Sialate O-acetylesterase 523 58315 6.93 0 Secreted;Lysosome Autoimmune disease 6 Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminic acid. NA NA NA PE1 11 +NX_Q9HAT8 E3 ubiquitin-protein ligase pellino homolog 2 420 46435 6.97 0 Nucleoplasm;Nucleolus;Cytoskeleton NA E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates IL1B-induced IRAK1 'Lys-63'-linked polyubiquitination and possibly 'Lys-48'-linked ubiquitination. May be important for LPS- and IL1B-induced MAP3K7-dependent, but not MAP3K3-dependent, NF-kappa-B activation. Can activate the MAP (mitogen activated protein) kinase pathway leading to activation of ELK1. Phosphorylated by IRAK1 and IRAK4 enhancing its E3 ligase activity.;PELI2 is phosphorylated by IRAK4 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the pellino family. Protein modification; protein ubiquitination.;IRAK1 recruits IKK complex;IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation;Interleukin-1 signaling PE1 14 +NX_Q9HAU0 Pleckstrin homology domain-containing family A member 5 1116 127464 7.2 0 Nucleoplasm;Cytoplasm;Cytosol NA NA NA NA Synthesis of PIPs at the plasma membrane PE1 12 +NX_Q9HAU4 E3 ubiquitin-protein ligase SMURF2 748 86196 8.18 0 Cytoplasm;Nucleus speckle;Cell membrane;Membrane raft;Nucleus NA E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Interacts with SMAD1 and SMAD7 in order to trigger their ubiquitination and proteasome-dependent degradation. In addition, interaction with SMAD7 activates autocatalytic degradation, which is prevented by interaction with SCYE1. Forms a stable complex with the TGF-beta receptor-mediated phosphorylated SMAD2 and SMAD3. In this way, SMAD2 may recruit substrates, such as SNON, for ubiquitin-mediated degradation. Enhances the inhibitory activity of SMAD7 and reduces the transcriptional activity of SMAD2. Coexpression of SMURF2 with SMAD1 results in considerable decrease in steady-state level of SMAD1 protein and a smaller decrease of SMAD2 level. Auto-ubiquitinated and ubiquitinated in the presence of RNF11 and UBE2D1. Ubiquitinated by the SCF(FBXL15) complex, leading to its degradation by the proteasome. NA Protein modification; protein ubiquitination.;Asymmetric localization of PCP proteins;Degradation of AXIN;Hedgehog 'on' state;Antigen processing: Ubiquitination & Proteasome degradation;Downregulation of SMAD2/3:SMAD4 transcriptional activity;Signaling by BMP;Downregulation of TGF-beta receptor signaling;Ub-specific processing proteases;Regulation of RUNX3 expression and activity PE1 17 +NX_Q9HAU5 Regulator of nonsense transcripts 2 1272 147810 5.5 0 Cytoplasm;Cytosol;Perinuclear region NA Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC). Recruited by UPF3B associated with the EJC core at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF3B stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA. NA NA RNA transport;mRNA surveillance pathway;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Regulation of expression of SLITs and ROBOs PE1 10 +NX_Q9HAU6 Putative translationally-controlled tumor protein-like protein TPT1P8 139 15994 5.42 0 NA NA NA NA Belongs to the TCTP family. NA PE5 8 +NX_Q9HAU8 Aminopeptidase RNPEPL1 725 80000 5.06 0 Nucleoplasm;Nucleolus NA Broad specificity aminopeptidase which preferentially hydrolyzes an N-terminal methionine, citrulline or glutamine. NA Belongs to the peptidase M1 family. NA PE1 2 +NX_Q9HAV0 Guanine nucleotide-binding protein subunit beta-4 340 37567 5.59 0 NA Charcot-Marie-Tooth disease, dominant, intermediate type, F Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. NA Belongs to the WD repeat G protein beta family. Chemokine signaling pathway;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;G alpha (i) signalling events;G alpha (q) signalling events;G alpha (s) signalling events;G beta:gamma signalling through PI3Kgamma;G alpha (12/13) signalling events;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G-protein activation;ADP signalling through P2Y purinoceptor 12;Prostacyclin signalling through prostacyclin receptor;Adrenaline,noradrenaline inhibits insulin secretion;Ca2+ pathway;G beta:gamma signalling through PLC beta;ADP signalling through P2Y purinoceptor 1;G alpha (z) signalling events;Glucagon-type ligand receptors;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Presynaptic function of Kainate receptors;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling;G beta:gamma signalling through BTK;G beta:gamma signalling through CDC42 PE1 3 +NX_Q9HAV4 Exportin-5 1204 136311 5.56 0 Cytoplasm;Nucleoplasm;Nucleus NA (Microbial infection) Mediates the nuclear export of adenovirus VA1 dsRNA.;Mediates the nuclear export of micro-RNA precursors, which form short hairpins (PubMed:14681208, PubMed:14631048, PubMed:15613540). Also mediates the nuclear export of synthetic short hairpin RNAs used for RNA interference. In some circumstances can also mediate the nuclear export of deacylated and aminoacylated tRNAs. Specifically recognizes dsRNAs that lack a 5'-overhang in a sequence-independent manner, have only a short 3'-overhang, and that have a double-stranded length of at least 15 base-pairs (PubMed:19965479). Binding is dependent on Ran-GTP (PubMed:19965479).;Mediates the nuclear export of proteins bearing a double-stranded RNA binding domain (dsRBD) and double-stranded RNAs (cargos). XPO5 in the nucleus binds cooperatively to the RNA and to the GTPase Ran in its active GTP-bound form. Proteins containing dsRBDs can associate with this trimeric complex through the RNA. Docking of this complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause disassembly of the complex and release of the cargo from the export receptor. XPO5 then returns to the nuclear compartment by diffusion through the nuclear pore complex, to mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Overexpression may in some circumstances enhance RNA-mediated gene silencing (RNAi). Mediates nuclear export of isoform 5 of ADAR/ADAR1 in a RanGTP-dependent manner. NA Belongs to the exportin family. RNA transport;MicroRNA (miRNA) biogenesis PE1 6 +NX_Q9HAV5 Tumor necrosis factor receptor superfamily member 27 297 32759 4.91 1 Membrane;Cell junction NA Receptor for EDA isoform A2, but not for EDA isoform A1. Mediates the activation of the NF-kappa-B and JNK pathways. Activation seems to be mediated by binding to TRAF3 and TRAF6. NA NA Cytokine-cytokine receptor interaction;TNFs bind their physiological receptors PE1 X +NX_Q9HAV7 GrpE protein homolog 1, mitochondrial 217 24279 8.24 0 Mitochondrion matrix;Mitochondrion NA Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner (By similarity). Seems to control the nucleotide-dependent binding of mitochondrial HSP70 to substrate proteins (PubMed:11311562). NA Belongs to the GrpE family. Mitochondrial protein import PE1 4 +NX_Q9HAW0 Transcription factor IIIB 50 kDa subunit 419 46533 8.29 0 Nucleolus;Nucleus NA General activator of RNA polymerase III transcription. Factor exclusively required for RNA polymerase III transcription of genes with promoter elements upstream of the initiation sites (PubMed:11040218, PubMed:11121026, PubMed:11564744, PubMed:26638071). Contributes to the regulation of gene expression; functions as activator in the absence of oxidative stress (PubMed:26638071). Down-regulates expression of target genes in response to oxidative stress (PubMed:26638071). Overexpression protects cells against apoptosis in response to oxidative stress (PubMed:26638071). In response to oxidative stress, Cys-361 is reversibly oxidized to cysteine sulfenic acid. Oxidation of Cys-361 impairs formation of a ternary complex with TBP and DNA and down-regulates expression of target genes in response to oxidative stress. Belongs to the TFIIB family. RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 3 Promoter PE1 8 +NX_Q9HAW4 Claspin 1339 151094 4.74 0 Golgi apparatus;Nucleoplasm;Nucleus NA Required for checkpoint mediated cell cycle arrest in response to inhibition of DNA replication or to DNA damage induced by both ionizing and UV irradiation. Adapter protein which binds to BRCA1 and the checkpoint kinase CHEK1 and facilitates the ATR-dependent phosphorylation of both proteins. Can also bind specifically to branched DNA structures and may associate with S-phase chromatin following formation of the pre-replication complex (pre-RC). This may indicate a role for this protein as a sensor which monitors the integrity of DNA replication forks. Phosphorylated. Undergoes ATR-dependent phosphorylation by CHEK1 during activation of DNA replication or damage checkpoints. Phosphorylation by CSNK1G1/CK1 promotes CHEK1 binding.;Ubiquitinated by the anaphase promoting complex/cyclosome (APC/C) during G1 phase, leading to its degradation by the proteasome. Ubiquitination is mediated via its interaction with FZR1/CDH1. Following DNA damage, it is deubiquitinated by USP28 in G2 phase, preventing its degradation. Belongs to the claspin family. Activation of ATR in response to replication stress;Apoptotic cleavage of cellular proteins;Processing of DNA double-strand break ends;Ub-specific processing proteases PE1 1 +NX_Q9HAW7 UDP-glucuronosyltransferase 1-7 530 59819 7.88 1 Endoplasmic reticulum membrane;Microsome NA UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds.;Lacks transferase activity but acts as a negative regulator of isoform 1. UGT1A7 is phosphorylated by PRKCE (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Glucuronidation PE1 2 +NX_Q9HAW8 UDP-glucuronosyltransferase 1-10 530 59810 6.88 1 Endoplasmic reticulum membrane;Microsome NA Lacks transferase activity but acts as a negative regulator of isoform 1.;UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. NA Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Glucuronidation PE1 2 +NX_Q9HAW9 UDP-glucuronosyltransferase 1-8 530 59742 7.6 1 Endoplasmic reticulum membrane;Microsome NA Lacks transferase activity but acts as a negative regulator of isoform 1.;UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. NA Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Glucuronidation PE1 2 +NX_Q9HAY2 Melanoma-associated antigen F1 307 35222 9.71 0 Cytoskeleton NA Enhances ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin ligases. Proposed to act through recruitment and/or stabilization of the E2 ubiquitin-conjugating enzyme at the E3:substrate complex. MAGEF1-NSMCE1 ubiquitin ligase complex promotes proteasomal degradation of MMS19, a key component of the cytosolic iron-sulfur protein assembly (CIA) machinery. Down-regulation of MMS19 impairs the activity of several DNA repair and metabolism enzymes such as ERCC2/XPD, FANCJ, RTEL1 and POLD1 that require iron-sulfur clusters as cofactors. May negatively regulate genome integrity by inhibiting homologous recombination-mediated double-strand break DNA repair (PubMed:29225034). NA NA NA PE1 3 +NX_Q9HAY6 Beta,beta-carotene 15,15'-dioxygenase 547 62637 6.21 0 Centriolar satellite;Cytoskeleton Hypercarotenemia and vitamin A deficiency, autosomal dominant Symmetrically cleaves beta-carotene into two molecules of retinal using a dioxygenase mechanism. NA Belongs to the carotenoid oxygenase family. Cofactor metabolism; retinol metabolism.;Retinol metabolism;Metabolic pathways;Retinoid metabolism and transport PE1 16 +NX_Q9HAZ1 Dual specificity protein kinase CLK4 481 57492 8.92 0 Nucleus;Cytoskeleton NA Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex and may be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing. Phosphorylates SRSF1 and SRSF3. Required for the regulation of alternative splicing of MAPT/TAU. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells. Autophosphorylates on all three types of residues.;Autophosphorylated (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. Lammer subfamily. NA PE1 5 +NX_Q9HAZ2 Histone-lysine N-methyltransferase PRDM16 1276 140251 5.81 0 Cytoplasm;Nucleoplasm;Nucleus Left ventricular non-compaction 8;Cardiomyopathy, dilated 1LL Binds DNA and functions as a transcriptional regulator (PubMed:12816872). Functions as a repressor of TGF-beta signaling (PubMed:14656887). May regulate granulocyte differentiation (PubMed:12816872).;Binds DNA and functions as a transcriptional regulator (PubMed:12816872). Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). Probably catalyzes the monomethylation of free histone H3 in the cytoplasm which is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases use it as a substrate to catalyze histone H3 'Lys-9' trimethylation (By similarity). Likely to be one of the primary histone methyltransferases along with MECOM/PRDM3 that direct cytoplasmic H3K9me1 methylation (By similarity). Functions in the differentiation of brown adipose tissue (BAT) which is specialized in dissipating chemical energy in the form of heat in response to cold or excess feeding while white adipose tissue (WAT) is specialized in the storage of excess energy and the control of systemic metabolism (By similarity). Together with CEBPB, regulates the differentiation of myoblastic precursors into brown adipose cells (By similarity). Functions as a repressor of TGF-beta signaling (PubMed:19049980). NA Belongs to the PRDM16 family. PKMTs methylate histone lysines PE1 1 +NX_Q9HB03 Elongation of very long chain fatty acids protein 3 270 31500 9.55 7 Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum membrane NA Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that exhibits activity toward saturated and unsaturated acyl-CoA substrates with higher activity toward C18 acyl-CoAs, especially C18:0 acyl-CoAs. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. N-Glycosylated. Belongs to the ELO family. ELOVL3 subfamily. Lipid metabolism; polyunsaturated fatty acid biosynthesis.;Fatty acid elongation;Synthesis of very long-chain fatty acyl-CoAs;Linoleic acid (LA) metabolism;alpha-linolenic acid (ALA) metabolism PE1 10 +NX_Q9HB07 UPF0160 protein MYG1, mitochondrial 376 42449 6.19 0 Nucleoplasm;Mitochondrion;Nucleus NA NA NA Belongs to the UPF0160 (MYG1) family. NA PE1 12 +NX_Q9HB09 Bcl-2-like protein 12 334 36821 9.45 0 Cytoplasmic vesicle;Cell membrane NA NA NA Belongs to the Bcl-2 family. NA PE1 19 +NX_Q9HB14 Potassium channel subfamily K member 13 408 45391 8.73 4 Membrane;Cell junction;Nucleus speckle NA Potassium channel displaying weak inward rectification in symmetrical K(+) solution. NA Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. Tandem pore domain halothane-inhibited K+ channel (THIK);Phase 4 - resting membrane potential PE1 14 +NX_Q9HB15 Potassium channel subfamily K member 12 430 46889 9.89 4 Membrane NA Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to associate with another protein to form a functional channel (By similarity). NA Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. Phase 4 - resting membrane potential PE1 2 +NX_Q9HB19 Pleckstrin homology domain-containing family A member 2 425 47255 8.92 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane (By similarity). NA NA Synthesis of PIPs at the plasma membrane PE1 8 +NX_Q9HB20 Pleckstrin homology domain-containing family A member 3 300 33861 6.19 0 Golgi apparatus;trans-Golgi network membrane NA Involved in Golgi to cell surface membrane traffic. Induces membrane tubulation. Binds preferentially to phosphatidylinositol 4-phosphate (PtdIns4P). NA NA Synthesis of PIPs at the plasma membrane PE1 2 +NX_Q9HB21 Pleckstrin homology domain-containing family A member 1 404 45553 8.77 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane. NA NA Synthesis of PIPs at the plasma membrane PE1 10 +NX_Q9HB29 Interleukin-1 receptor-like 2 575 65405 7.24 1 Membrane NA Receptor for interleukin-36 (IL36A, IL36B and IL36G). After binding to interleukin-36 associates with the coreceptor IL1RAP to form the interleukin-36 receptor complex which mediates interleukin-36-dependent activation of NF-kappa-B, MAPK and other pathways (By similarity). The IL-36 signaling system is thought to be present in epithelial barriers and to take part in local inflammatory response; it is similar to the IL-1 system. Seems to be involved in skin inflammatory response by induction of the IL-23/IL-17/IL-22 pathway. NA Belongs to the interleukin-1 receptor family. Interleukin-36 pathway;Interleukin-38 signaling PE1 2 +NX_Q9HB31 Homeobox protein SEBOX 190 20398 8.91 0 Nucleus NA Probable transcription factor involved in the control of specification of mesoderm and endoderm. NA Belongs to the paired homeobox family. NA PE2 17 +NX_Q9HB40 Retinoid-inducible serine carboxypeptidase 452 50831 5.6 0 Golgi apparatus;Secreted NA May be involved in vascular wall and kidney homeostasis. NA Belongs to the peptidase S10 family. NA PE1 17 +NX_Q9HB55 Cytochrome P450 3A43 503 57670 8.27 0 Microsome membrane;Endoplasmic reticulum membrane NA Exhibits low testosterone 6-beta-hydroxylase activity. NA Belongs to the cytochrome P450 family. Steroid hormone biosynthesis;Linoleic acid metabolism;Retinol metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Miscellaneous substrates;Xenobiotics PE1 7 +NX_Q9HB58 Sp110 nuclear body protein 689 78396 9.1 0 Nucleoplasm;Nucleus Hepatic venoocclusive disease with immunodeficiency Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE). Phosphorylated (isoform 2). NA NA PE1 2 +NX_Q9HB63 Netrin-4 628 70071 8.44 0 Basement membrane NA May play an important role in neural, kidney and vascular development. Promotes neurite elongation from olfactory bulb explants. NA NA Axon guidance;Netrin-1 signaling;Non-integrin membrane-ECM interactions PE1 12 +NX_Q9HB65 RNA polymerase II elongation factor ELL3 397 45361 5.73 0 Nucleoplasm;Nucleolus;Nucleus NA Enhancer-binding elongation factor that specifically binds enhancers in embryonic stem cells (ES cells), marks them, and is required for their future activation during stem cell specification. Does not only bind to enhancer regions of active genes, but also marks the enhancers that are in a poised or inactive state in ES cells and is required for establishing proper RNA polymerase II occupancy at developmentally regulated genes in a cohesin-dependent manner. Probably required for priming developmentally regulated genes for later recruitment of the super elongation complex (SEC), for transcriptional activation during differentiation. Required for recruitment of P-TEFb within SEC during differentiation. Probably preloaded on germ cell chromatin, suggesting that it may prime gene activation by marking enhancers as early as in the germ cells. Promoting epithelial-mesenchymal transition (EMT) (By similarity). Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968). NA Belongs to the ELL/occludin family. RNA polymerase II transcribes snRNA genes PE1 15 +NX_Q9HB71 Calcyclin-binding protein 228 26210 8.28 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA May be involved in calcium-dependent ubiquitination and subsequent proteasomal degradation of target proteins. Probably serves as a molecular bridge in ubiquitin E3 complexes. Participates in the ubiquitin-mediated degradation of beta-catenin (CTNNB1). Phosphorylated on serine residues. Phosphorylated upon induction by RA or at high calcium concentrations. NA Wnt signaling pathway PE1 1 +NX_Q9HB75 p53-induced death domain-containing protein 1 910 99712 6.01 0 Golgi apparatus;Cytoplasm;Cytosol;Nucleus NA Component of the DNA damage/stress response pathway that functions downstream of p53/TP53 and can either promote cell survival or apoptosis (PubMed:10973264, PubMed:15073321, PubMed:16360037, PubMed:17159900). Associated with CRADD and the CASP2 caspase, it forms the PIDDosome a complex that activates CASP2 and triggers apoptosis (PubMed:15073321, PubMed:17159900). Associated with IKBKG and RIPK1, it enhances sumoylation and ubiquitination of IKBKG which is important for activation of the transcription factor NF-kappa-B (PubMed:16360037, PubMed:17159900). Undergoes autoproteolytic processing whose extent either directs cells towards survival or apoptotic pathways (PubMed:17159900). Autoproteolytically cleaved into two main fragments PIDD-N and PIDD-C (PubMed:17159900). PIDD-C can be further processed into PIDD-CC, a processing which is enhanced by DNA damage (PubMed:17159900). The cleavage producing PIDD-C is required for translocation of PIDD1 to the nucleus upon DNA damage and activation of NF-kappa-B (PubMed:17159900). PIDD-CC mediates the interaction with CRADD and the cleavage producing PIDD-CC is required for the activation of CASP2 (PubMed:17159900). PIDD-N remains associated with PIDD-C and PIDD-CC after cleavage (PubMed:17159900). NA p53 signaling pathway;TP53 Regulates Transcription of Caspase Activators and Caspases PE1 11 +NX_Q9HB89 Neuromedin-U receptor 1 426 47351 9.06 7 Cell membrane NA Receptor for the neuromedin-U and neuromedin-S neuropeptides. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Peptide ligand-binding receptors;G alpha (q) signalling events PE2 2 +NX_Q9HB90 Ras-related GTP-binding protein C 399 44224 4.94 0 Cytoplasm;Nucleoplasm;Lysosome;Cytoplasmic vesicle;Nucleus NA Guanine nucleotide-binding protein forming heterodimeric Rag complexes required for the amino acid-induced relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. This is a crucial step in the activation of the TOR signaling cascade by amino acids. NA Belongs to the GTR/RAG GTP-binding protein family. NA PE1 1 +NX_Q9HB96 Fanconi anemia group E protein 536 58711 5.17 0 Nucleoplasm;Nucleus Fanconi anemia complementation group E As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. Ubiquitinated. Phosphorylation by CHEK1 induces polyubiquitination and degradation.;Phosphorylated. Phosphorylation by CHEK1 at Thr-346 and Ser-374 regulates its function in DNA cross-links repair. NA Fanconi anemia pathway;Fanconi Anemia Pathway PE1 6 +NX_Q9HBA0 Transient receptor potential cation channel subfamily V member 4 871 98281 7.83 6 Cell membrane;Adherens junction;Cilium;Endoplasmic reticulum;Apical cell membrane Neuronopathy, distal hereditary motor, 8;Brachyolmia 3;Parastremmatic dwarfism;Metatropic dysplasia;Spondyloepiphyseal dysplasia Maroteaux type;Charcot-Marie-Tooth disease 2C;Spondylometaphyseal dysplasia Kozlowski type;Avascular necrosis of the femoral head, primary 2;Digital arthropathy-brachydactyly, familial;Scapuloperoneal spinal muscular atrophy Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by phorbol esters. Has the same channel activity as isoform 1, and is activated by the same stimuli.;Lacks channel activity, due to impaired oligomerization and intracellular retention.;Lacks channel activity, due to impaired oligomerization and intracellular retention.;Lacks channel activity, due to impaired oligomerization and intracellular retention.;Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification (PubMed:18826956, PubMed:18695040). Also activated by heat, low pH, citrate and phorbol esters (PubMed:16293632, PubMed:18826956, PubMed:18695040, PubMed:25256292, PubMed:20037586, PubMed:21964574). Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism (PubMed:12724311, PubMed:18826956). Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers (By similarity). Acts as a regulator of intracellular Ca(2+) in synoviocytes (PubMed:19759329). Plays an obligatory role as a molecular component in the nonselective cation channel activation induced by 4-alpha-phorbol 12,13-didecanoate and hypotonic stimulation in synoviocytes and also regulates production of IL-8 (PubMed:19759329). Together with PKD2, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). Negatively regulates expression of PPARGC1A, UCP1, oxidative metabolism and respiration in adipocytes (By similarity). Regulates expression of chemokines and cytokines related to proinflammatory pathway in adipocytes (By similarity). Together with AQP5, controls regulatory volume decrease in salivary epithelial cells (By similarity). Required for normal development and maintenance of bone and cartilage (PubMed:26249260). N-glycosylated. Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV4 sub-subfamily. TRP channels PE1 12 +NX_Q9HBA9 Putative N-acetylated-alpha-linked acidic dipeptidase 442 50045 6.53 0 Cytoplasm NA Exhibits a dipeptidyl-peptidase IV type activity.;Has both folate hydrolase and N-acetylated-alpha-linked-acidic dipeptidase (NAALADase) activity. NA Belongs to the peptidase M28 family. M28B subfamily. Aspartate and asparagine metabolism PE2 11 +NX_Q9HBB8 Cadherin-related family member 5 845 88223 4.81 1 Apical cell membrane;Microvillus membrane NA Intermicrovillar adhesion molecule that forms, via its extracellular domain, calcium-dependent heterophilic complexes with CDHR2 on adjacent microvilli. Thereby, controls the packing of microvilli at the apical membrane of epithelial cells. Through its cytoplasmic domain, interacts with microvillus cytoplasmic proteins to form the intermicrovillar adhesion complex/IMAC. This complex plays a central role in microvilli and epithelial brush border differentiation. N- and O-glycosylated. NA NA PE1 11 +NX_Q9HBD1 Roquin-2 1191 131669 6.43 0 Cytoplasmic vesicle;P-body NA Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3'-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF and in many more mRNAs. Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs. In follicular helper T (Tfh) cells, represses of ICOS and TNFRSF4 expression, thus preventing spontaneous Tfh cell differentiation, germinal center B-cell differentiation in the absence of immunization and autoimmunity. In resting or LPS-stimulated macrophages, controls inflammation by suppressing TNF expression. Also recognizes CDE in its own mRNA and in that of paralogous RC3H1, possibly leading to feedback loop regulation (By similarity). MiRNA-binding protein that regulates microRNA homeostasis. Enhances DICER-mediated processing of pre-MIR146a but reduces mature MIR146a levels through an increase of 3' end uridylation. Both inhibits ICOS mRNA expression and they may act together to exert the suppression (PubMed:25697406). Acts as a ubiquitin E3 ligase. Pairs with E2 enzymes UBE2B, UBE2D2, UBE2E2, UBE2E3, UBE2G2, UBE2K and UBE2Q2 and produces polyubiquitin chains (PubMed:26489670). Show the strongest activity when paired with UBE2N:UBE2V1 or UBE2N:UBE2V2 E2 complexes and generate both short and long polyubiquitin chains (PubMed:26489670). Involved in the ubiquitination of MAP3K5 (PubMed:24448648, PubMed:26489670) (By similarity). Able to interact with double-stranded RNA (dsRNA) (PubMed:26489670). Proteolytically cleaved after Arg-509 and Arg-585 by MALT1 in activated CD4(+) T cells; cleavage at Arg-509 and Arg-585 is critical for promoting RC3H1 degradation in response to T-cell receptor (TCR) stimulation, and hence is necessary for prolonging the stability of a set of mRNAs controlling Th17 cell differentiation. NA Protein modification; protein ubiquitination. PE1 9 +NX_Q9HBE1 POZ-, AT hook-, and zinc finger-containing protein 1 687 74060 8.71 0 Nucleoplasm;Nucleus NA Transcriptional repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 22 +NX_Q9HBE4 Interleukin-21 162 18653 9.54 0 Secreted Immunodeficiency, common variable, 11 Cytokine with immunoregulatory activity. May promote the transition between innate and adaptive immunity. Induces the production of IgG(1) and IgG(3) in B-cells (By similarity). May play a role in proliferation and maturation of natural killer (NK) cells in synergy with IL15. May regulate proliferation of mature B- and T-cells in response to activating stimuli. In synergy with IL15 and IL18 stimulates interferon gamma production in T-cells and NK cells. During T-cell mediated immune response may inhibit dendritic cells (DC) activation and maturation. NA Belongs to the IL-15/IL-21 family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-21 signaling PE1 4 +NX_Q9HBE5 Interleukin-21 receptor 538 59130 4.57 1 Membrane;Cytosol;Cell membrane Immunodeficiency 56 This is a receptor for interleukin-21. C-mannosylated at Trp-214 in the WSXWS motif, the sugar chain makes extensive hydrogen bonds with Asn-73 sugar, and bridges the two fibronectin domains transforming the V-shaped receptor into an A-frame. Belongs to the type I cytokine receptor family. Type 4 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-21 signaling PE1 16 +NX_Q9HBF4 Zinc finger FYVE domain-containing protein 1 777 87176 7.29 0 Endoplasmic reticulum;Golgi stack NA NA NA NA NA PE1 14 +NX_Q9HBF5 Suppressor of tumorigenicity 20 protein 79 9024 8.52 0 NA NA May act as a tumor suppressor. Promotes apoptosis of cancer cells. NA NA NA PE2 15 +NX_Q9HBG4 V-type proton ATPase 116 kDa subunit a isoform 4 840 96386 5.75 8 Apical cell membrane;Cytosol Renal tubular acidosis, distal, autosomal recessive Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney. NA Belongs to the V-ATPase 116 kDa subunit family. Oxidative phosphorylation;Metabolic pathways;Lysosome;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Tuberculosis;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE1 7 +NX_Q9HBG6 Intraflagellar transport protein 122 homolog 1241 141825 6.08 0 Nucleoplasm;Cytosol;Cilium;Cilium basal body Cranioectodermal dysplasia 1 As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is required in ciliogenesis and ciliary protein trafficking (PubMed:27932497, PubMed:29220510). Involved in cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity). NA NA Intraflagellar transport;Hedgehog 'off' state PE1 3 +NX_Q9HBG7 T-lymphocyte surface antigen Ly-9 655 72139 5.36 1 Membrane;Cell membrane NA Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. May participate in adhesion reactions between T lymphocytes and accessory cells by homophilic interaction. Promotes T-cell differentiation into a helper T-cell Th17 phenotype leading to increased IL-17 secretion; the costimulatory activity requires SH2D1A (PubMed:22184727). Promotes recruitment of RORC to the IL-17 promoter (PubMed:22989874). May be involved in the maintenance of peripheral cell tolerance by serving as a negative regulator of the immune response. May disable autoantibody responses and inhibit IFN-gamma secretion by CD4(+) T-cells. May negatively regulate the size of thymic innate CD8(+) T-cells and the development of invariant natural killer T (iNKT) cells (By similarity). NA NA NA PE1 1 +NX_Q9HBH0 Rho-related GTP-binding protein RhoF 211 23625 8.9 0 Golgi apparatus;Nucleoplasm;Cytoskeleton;Cell membrane NA Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. Causes the formation of thin, actin-rich surface projections called filopodia. Functions cooperatively with CDC42 and Rac to generate additional structures, increasing the diversity of actin-based morphology. NA Belongs to the small GTPase superfamily. Rho family. Rho GTPase cycle;Neutrophil degranulation PE1 12 +NX_Q9HBH1 Peptide deformylase, mitochondrial 243 27013 9.48 0 Nucleoplasm;Mitochondrion NA Removes the formyl group from the N-terminal Met of newly synthesized proteins. NA Belongs to the polypeptide deformylase family. NA PE1 16 +NX_Q9HBH5 Retinol dehydrogenase 14 336 36865 9.02 0 Endoplasmic reticulum;Nucleoplasm;Cytosol NA Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol. Shows a very weak activity towards 13-cis-retinol. Has no activity towards steroid. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Cofactor metabolism; retinol metabolism.;RA biosynthesis pathway PE1 2 +NX_Q9HBH7 Protein BEX1 125 14860 6.31 0 Cytoplasm;Nucleus NA Signaling adapter molecule involved in p75NTR/NGFR signaling. Plays a role in cell cycle progression and neuronal differentiation. Inhibits neuronal differentiation in response to nerve growth factor (NGF). May act as a link between the cell cycle and neurotrophic factor signaling, possibly by functioning as an upstream modulator of receptor signaling, coordinating biological responses to external signals with internal cellular states (By similarity). Ubiquitinated. Degraded by the proteasome (By similarity).;Phosphorylated. Phosphorylation of Ser-102 protects it from the proteasome (By similarity). Belongs to the BEX family. NA PE1 X +NX_Q9HBH9 MAP kinase-interacting serine/threonine-protein kinase 2 465 51875 5.8 0 Cytoplasm;Nucleus;PML body NA Serine/threonine-protein kinase that phosphorylates SFPQ/PSF, HNRNPA1 and EIF4E. May play a role in the response to environmental stress and cytokines. Appears to regulate translation by phosphorylating EIF4E, thus increasing the affinity of this protein for the 7-methylguanosine-containing mRNA cap. Required for mediating PP2A-inhibition-induced EIF4E phosphorylation. Triggers EIF4E shuttling from cytoplasm to nucleus.;Displays a high basal kinase activity, but isoform 2 exhibits a very low kinase activity. Acts as a mediator of the suppressive effects of IFNgamma on hematopoiesis. Negative regulator for signals that control generation of arsenic trioxide As(2)O(3)-dependent apoptosis and anti-leukemic responses. Involved in anti-apoptotic signaling in response to serum withdrawal. Dual phosphorylation of Thr-244 and Thr-249 activates the kinase. Phosphorylation of Thr-379 activates the kinase. Phosphorylated upon arsenic trioxide As(2)O(3) treatment. Phosphorylated by MAPK1/ERK2, MAPK11 and MAPK14. Dephosphorylated by PP2A.;MKNK2 is phosphorylated by MAPK11 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MKNK2 is phosphorylated by MAPK14 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);MKNK2 is phosphorylated by MAPK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. MAPK signaling pathway;Insulin signaling pathway PE1 19 +NX_Q9HBI0 Gamma-parvin 331 37485 5.32 0 Focal adhesion;Cytoskeleton;Cell membrane NA Probably plays a role in the regulation of cell adhesion and cytoskeleton organization. NA Belongs to the parvin family. Focal adhesion PE1 22 +NX_Q9HBI1 Beta-parvin 364 41714 6.26 0 Cell membrane;Focal adhesion;Sarcomere;Lamellipodium;Cytosol;Z line;Cytoskeleton NA Adapter protein that plays a role in integrin signaling via ILK and in activation of the GTPases CDC42 and RAC1 by guanine exchange factors, such as ARHGEF6. Is involved in the reorganization of the actin cytoskeleton and formation of lamellipodia. Plays a role in cell adhesion, cell spreading, establishment or maintenance of cell polarity, and cell migration. NA Belongs to the parvin family. Focal adhesion;Regulation of cytoskeletal remodeling and cell spreading by IPP complex components;Cell-extracellular matrix interactions PE1 22 +NX_Q9HBI5 Uncharacterized protein C3orf14 128 15007 5.67 0 Cytosol;Cell membrane NA NA NA NA NA PE1 3 +NX_Q9HBI6 Cytochrome P450 4F11 524 60146 6.26 1 Microsome membrane;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids and their oxygenated derivatives (oxylipins) (PubMed:24138531, PubMed:15364545, PubMed:18065749). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:15364545, PubMed:18065749, PubMed:24138531). Catalyzes with high efficiency the oxidation of the terminal carbon (omega-oxidation) of 3-hydroxy fatty acids, such as 3-hydroxyhexadecanoic and 3-hydroxyoctadecanoic acids, likely participating in the biosynthesis of long-chain 3-hydroxydicarboxylic acids (PubMed:18065749, PubMed:19932081). Omega-hydroxylates and inactivates phylloquinone (vitamin K1), and menaquinone-4 (MK-4, a form of vitamin K2), both acting as cofactors in blood coagulation (PubMed:24138531). Metabolizes with low efficiciency fatty acids, including (5Z,8Z,11Z,14Z)-eicosatetraenoic acid (arachidonate) and its oxygenated metabolite 8-hydroxyeicosatetraenoic acid (8-HETE) (PubMed:15364545, PubMed:19932081). Catalyzes N- and O-demethylation of drugs such as erythromycin, benzphetamine, ethylmorphine, chlorpromazine, imipramine and verapamil (PubMed:15364545). NA Belongs to the cytochrome P450 family. Lipid metabolism; arachidonate metabolism.;Lipid metabolism; oxylipin biosynthesis.;Cofactor degradation; phylloquinone degradation.;Xenobiotic degradation.;Arachidonic acid metabolism;Metabolic pathways;Miscellaneous substrates;Fatty acids;Eicosanoids;Synthesis of Leukotrienes (LT) and Eoxins (EX) PE1 19 +NX_Q9HBJ0 Placenta-specific protein 1 212 23616 6.23 0 Secreted;Nucleus;Cell membrane NA May play a role in placental development. NA Belongs to the PLAC1 family. NA PE1 X +NX_Q9HBJ7 Ubiquitin carboxyl-terminal hydrolase 29 922 104156 5.62 0 NA NA NA NA Belongs to the peptidase C19 family. NA PE2 19 +NX_Q9HBJ8 Collectrin 222 25235 5.43 1 Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane NA Plays an important role in amino acid transport by acting as binding partner of amino acid transporters SLC6A18 and SLC6A19, regulating their trafficking on the cell surface and their amino acid transporter activity (By similarity). May also play a role in trafficking of amino acid transporters SLC3A1 and SLC7A9 to the renal cortical cell membrane (By similarity). Regulator of SNARE complex function (PubMed:16330323). Stimulator of beta cell replication (PubMed:16330323). Glycosylated. Glycosylation is required for plasma membrane localization and for its cleavage by BACE2.;Proteolytically processed in pancreatic beta cells by BACE2 leading to the generation and extracellular release of soluble CLTRN, and a corresponding cell-associated C-terminal fragment which is later cleaved by gamma-secretase. This shedding process inactivates CLTRN (By similarity). Three cleavage sites have been identified for BACE2, two clustered sites after Phe-116 and Leu-118 and a more membrane proximal site at Phe-125; the preferred BACE2 cleavage site seems to be between Phe-125 and Leu-126, Phe-116 and Leu-118 act as alternative sites (PubMed:21907142, PubMed:22628310). Belongs to the CLTRN family. Insulin processing PE1 X +NX_Q9HBK9 Arsenite methyltransferase 375 41748 5.83 0 Cytosol;Mitochondrion NA Catalyzes the transfer of a methyl group from AdoMet to trivalent arsenicals producing methylated and dimethylated arsenicals (PubMed:16407288, PubMed:25997655). It methylates arsenite to form methylarsonate, Me-AsO(3)H(2), which is reduced by methylarsonate reductase to methylarsonite, Me-As(OH)2 (PubMed:16407288, PubMed:25997655). Methylarsonite is also a substrate and it is converted into the much less toxic compound dimethylarsinate (cacodylate), Me(2)As(O)-OH (PubMed:16407288, PubMed:25997655). NA Belongs to the methyltransferase superfamily. Arsenite methyltransferase family. Methylation PE1 10 +NX_Q9HBL0 Tensin-1 1735 185701 7.55 0 Cell surface;Focal adhesion;Cytoskeleton NA Involved in fibrillar adhesion formation. May be involved in cell migration, cartilage development and in linking signal transduction pathways to the cytoskeleton. Rapidly cleaved by calpain II. NA NA PE1 2 +NX_Q9HBL6 Leucine-rich repeat and transmembrane domain-containing protein 1 345 38171 6.26 1 Membrane NA NA NA NA NA PE2 3 +NX_Q9HBL7 Plasminogen receptor (KT) 147 17201 9.58 2 Mitochondrion;Cell membrane NA Receptor for plasminogen. Regulates urokinase plasminogen activator-dependent and stimulates tissue-type plasminogen activator-dependent cell surface plasminogen activation. Proposed to be part of a local catecholaminergic cell plasminogen activation system that regulates neuroendocrine prohormone processing. Involved in regulation of inflammatory response; regulates monocyte chemotactic migration and matrix metalloproteinase activation, such as of MMP2 and MMP9. NA NA NA PE1 9 +NX_Q9HBL8 NmrA-like family domain-containing protein 1 299 33344 7.06 0 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus NA Redox sensor protein. Undergoes restructuring and subcellular redistribution in response to changes in intracellular NADPH/NADP(+) levels. At low NADPH concentrations the protein is found mainly as a monomer, and binds argininosuccinate synthase (ASS1), the enzyme involved in nitric oxide synthesis. Association with ASS1 impairs its activity and reduces the production of nitric oxide, which subsecuently prevents apoptosis. Under normal NADPH concentrations, the protein is found as a dimer and hides the binding site for ASS1. The homodimer binds one molecule of NADPH. Has higher affinity for NADPH than for NADP(+). Binding to NADPH is necessary to form a stable dimer. NA Belongs to the NmrA-type oxidoreductase family. Urea cycle PE1 16 +NX_Q9HBM0 Vezatin 779 88665 5.11 2 Cell membrane;Stereocilium membrane;Adherens junction;Nucleoplasm;Cytosol;Nucleus;Acrosome NA (Microbial infection) In case of Listeria infection, promotes bacterial internalization by participating in myosin VIIa recruitment to the entry site.;Plays a pivotal role in the establishment of adherens junctions and their maintenance in adult life. Required for morphogenesis of the preimplantation embryo, and for the implantation process. NA Belongs to the vezatin family. NA PE1 12 +NX_Q9HBM1 Kinetochore protein Spc25 224 26153 7.7 0 Kinetochore;Cytosol;Nucleus NA Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:14699129, PubMed:14738735). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:14738735, PubMed:14699129). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020). NA Belongs to the SPC25 family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 2 +NX_Q9HBM6 Transcription initiation factor TFIID subunit 9B 251 27622 9.58 0 Nucleus NA Essential for cell viability. TAF9 and TAF9B are involved in transcriptional activation as well as repression of distinct but overlapping sets of genes. May have a role in gene regulation associated with apoptosis. TAFs are components of the transcription factor IID (TFIID) complex, the TBP-free TAFII complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex. TFIID or TFTC are essential for the regulation of RNA polymerase II-mediated transcription. NA Belongs to the TAF9 family. Basal transcription factors;Herpes simplex infection;RNA Polymerase II Pre-transcription Events;HIV Transcription Initiation;RNA Polymerase II HIV Promoter Escape;Transcription of the HIV genome;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;Regulation of TP53 Activity through Phosphorylation;Ub-specific processing proteases PE1 X +NX_Q9HBQ8 Putative golgin subfamily A member 2B 144 15482 5.27 0 NA NA NA NA Belongs to the GOLGA2 family. NA PE5 12 +NX_Q9HBR0 Putative sodium-coupled neutral amino acid transporter 10 1119 119762 5.51 10 Membrane;Golgi apparatus NA Putative sodium-dependent amino acid/proton antiporter. NA Belongs to the amino acid/polyamine transporter 2 family. NA PE1 17 +NX_Q9HBT6 Cadherin-20 801 88993 4.54 1 Cell membrane NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. NA NA NA PE1 18 +NX_Q9HBT7 Zinc finger protein 287 754 87565 8.8 0 Golgi apparatus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 17 +NX_Q9HBT8 Zinc finger protein 286A 521 60175 8.64 0 Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 17 +NX_Q9HBU1 Homeobox protein BarH-like 1 254 27298 9.72 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Transcription factor, which is involved in craniofacial development, in odontogenesis and in stomach organogenesis. May have a role in the differentiation of molars from incisors. Plays a role in suppressing endodermal Wnt activity (By similarity). Binds to a regulatory module of the NCAM promoter. NA Belongs to the BAR homeobox family. NA PE1 9 +NX_Q9HBU6 Ethanolamine kinase 1 452 50968 6.09 0 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA Highly specific for ethanolamine phosphorylation. May be a rate-controlling step in phosphatidylethanolamine biosynthesis. NA Belongs to the choline/ethanolamine kinase family. Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 1/3.;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PE PE1 12 +NX_Q9HBU9 Popeye domain-containing protein 2 364 40448 5.23 2 Membrane;Sarcolemma NA Important for the maintenance of cardiac function. Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density. NA Belongs to the popeye family. NA PE1 3 +NX_Q9HBV1 Popeye domain-containing protein 3 291 33870 8.12 3 Membrane;Cytosol;Nucleolus NA May play a role in the maintenance of heart function mediated, at least in part, through cAMP-binding. NA Belongs to the popeye family. NA PE2 6 +NX_Q9HBV2 Sperm acrosome membrane-associated protein 1 294 32143 4.57 1 Acrosome inner membrane NA Plays a role in acrosome expansion and establishment of normal sperm morphology during spermatogenesis (By similarity). Important for male fertility (PubMed:11870081). N-glycosylated. NA NA PE1 6 +NX_Q9HBW0 Lysophosphatidic acid receptor 2 351 39084 9.48 7 Cell surface;Cell membrane NA Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. Seems to be coupled to the G(i)/G(o), G(12)/G(13), and G(q) families of heteromeric G proteins. Plays a key role in phospholipase C-beta (PLC-beta) signaling pathway. Stimulates phospholipase C (PLC) activity in a manner that is independent of RALA activation. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;G alpha (q) signalling events;Lysosphingolipid and LPA receptors PE1 19 +NX_Q9HBW1 Leucine-rich repeat-containing protein 4 653 72717 6.58 1 Membrane;Golgi apparatus;Postsynaptic cell membrane NA Synaptic adhesion protein. Regulates the formation of exitatory synapses through the recruitment of pre-and-postsynaptic proteins. Organize the lamina/pathway-specific differentiation of dendrites. Plays an important role for auditory synaptic responses. Involved in the suppression of glioma (By similarity). N-glycosylated. NA NA PE1 7 +NX_Q9HBW9 Adhesion G protein-coupled receptor L4 690 77811 7.81 7 Cell membrane NA Endothelial orphan receptor that acts as a key regulator of angiogenesis. Glycosylated.;Proteolytically cleaved into 2 subunits, an extracellular alpha subunit and a seven-transmembrane subunit. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. NA PE1 1 +NX_Q9HBX3 Uncharacterized protein encoded by SND1-IT1 110 12922 8.84 0 NA NA NA NA NA NA PE4 7 +NX_Q9HBX8 Leucine-rich repeat-containing G-protein coupled receptor 6 967 104298 5.43 7 Nucleoplasm;Cell membrane NA Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and acts as a marker of multipotent stem cells in the epidermis. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the signal. May act as a tumor suppressor. NA Belongs to the G-protein coupled receptor 1 family. Regulation of FZD by ubiquitination PE1 1 +NX_Q9HBX9 Relaxin receptor 1 757 86975 8.39 7 Cell membrane NA Receptor for relaxins. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. Binding of the ligand may also activate a tyrosine kinase pathway that inhibits the activity of a phosphodiesterase that degrades cAMP. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Relaxin receptors;G alpha (s) signalling events PE1 4 +NX_Q9HBY0 NADPH oxidase 3 568 64935 8.28 6 Membrane;Cytoplasmic vesicle NA NADPH oxidase which constitutively produces superoxide upon formation of a complex with CYBA/p22phox. Plays a role in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity. NA NA Phagosome;Osteoclast differentiation;Leukocyte transendothelial migration;RHO GTPases Activate NADPH Oxidases PE1 6 +NX_Q9HBY8 Serine/threonine-protein kinase Sgk2 427 47604 7.16 0 Cytoplasm;Nucleoplasm;Nucleus NA Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cell growth, survival and proliferation. Up-regulates Na(+) channels: SCNN1A/ENAC, K(+) channels: KCNA3/Kv1.3, KCNE1 and KCNQ1, amino acid transporter: SLC6A19, glutamate transporter: SLC1A6/EAAT4, glutamate receptors: GRIA1/GLUR1 and GRIK2/GLUR6, Na(+)/H(+) exchanger: SLC9A3/NHE3, and the Na(+)/K(+) ATPase. Activated by phosphorylation on Ser-416 by an unknown kinase (may be mTORC2 but not confirmed), transforming it into a substrate for PDPK1 which then phosphorylates it on Thr-253. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. Stimuli-sensing channels PE1 20 +NX_Q9HBZ2 Aryl hydrocarbon receptor nuclear translocator 2 717 78691 6.25 0 Nucleoplasm;Nucleus Webb-Dattani syndrome Transcription factor that plays a role in the development of the hypothalamo-pituitary axis, postnatal brain growth, and visual and renal function (PubMed:24022475). Specifically recognizes the xenobiotic response element (XRE). NA NA Pathways in cancer;Renal cell carcinoma;Xenobiotics;PPARA activates gene expression;Endogenous sterols;Phase I - Functionalization of compounds;Aryl hydrocarbon receptor signalling PE1 15 +NX_Q9HC07 Transmembrane protein 165 324 34906 6.53 6 Golgi apparatus;Lysosome membrane;trans-Golgi network membrane;Golgi apparatus membrane;Early endosome membrane;Late endosome membrane Congenital disorder of glycosylation 2K May function as a calcium/proton transporter involved in calcium and in lysosomal pH homeostasis. Therefore, it may play an indirect role in protein glycosylation. NA Belongs to the GDT1 family. NA PE1 4 +NX_Q9HC10 Otoferlin 1997 226753 5.49 1 Endoplasmic reticulum membrane;Presynaptic cell membrane;Cell membrane;Basolateral cell membrane;Synaptic vesicle membrane;Golgi apparatus membrane Deafness, autosomal recessive, 9;Auditory neuropathy, autosomal recessive, 1 Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes (By similarity). NA Belongs to the ferlin family. Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 2 +NX_Q9HC16 DNA dC->dU-editing enzyme APOBEC-3G 384 46408 8.28 0 Cytoplasm;P-body;Nucleus NA DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. Exhibits potent antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single-or double-stranded RNA. Exhibits antiviral activity also against simian immunodeficiency viruses (SIVs), hepatitis B virus (HBV), equine infectious anemia virus (EIAV), xenotropic MuLV-related virus (XMRV) and simian foamy virus (SFV). May inhibit the mobility of LTR and non-LTR retrotransposons. Ubiquitinated in the presence of HIV-1 VIF. Association with VIF targets the protein for proteolysis by the ubiquitin-dependent proteasome pathway.;Phosphorylation at Thr-32 reduces its binding to HIV-1 VIF and subsequent ubiquitination and degradation thus promoting its antiviral activity. Belongs to the cytidine and deoxycytidylate deaminase family. Vif-mediated degradation of APOBEC3G;APOBEC3G mediated resistance to HIV-1 infection PE1 22 +NX_Q9HC21 Mitochondrial thiamine pyrophosphate carrier 320 35511 9.61 6 Mitochondrion inner membrane Microcephaly, Amish type;Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Vitamin B1 (thiamin) metabolism PE1 17 +NX_Q9HC23 Prokineticin-2 129 14314 10.12 0 Secreted Hypogonadotropic hypogonadism 4 with or without anosmia May function as an output molecule from the suprachiasmatic nucleus (SCN) that transmits behavioral circadian rhythm. May also function locally within the SCN to synchronize output. Potently contracts gastrointestinal (GI) smooth muscle. NA Belongs to the AVIT (prokineticin) family. Peptide ligand-binding receptors;G alpha (q) signalling events PE1 3 +NX_Q9HC24 Protein lifeguard 4 238 26971 6.58 6 Golgi apparatus membrane NA Anti-apoptotic protein which can inhibit apoptosis induced by intrinsic and extrinsic apoptotic stimuli. Can modulate both capacitative Ca2+ entry and inositol 1,4,5-trisphosphate (IP3)-mediated Ca2+ release. NA Belongs to the BI1 family. LFG subfamily. NA PE1 12 +NX_Q9HC29 Nucleotide-binding oligomerization domain-containing protein 2 1040 115283 6.3 0 Cytoplasm;Golgi apparatus;Mitochondrion;Basolateral cell membrane;Membrane;Cytosol Blau syndrome;Inflammatory bowel disease 1;Yao syndrome Involved in gastrointestinal immunity. Upon stimulation by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, binds the proximal adapter receptor-interacting RIPK2, which recruits ubiquitin ligases as XIAP, BIRC2, BIRC3, INAVA and the LUBAC complex, triggering activation of MAP kinases and activation of NF-kappa-B signaling. This in turn leads to the transcriptional activation of hundreds of genes involved in immune response. Required for MDP-induced NLRP1-dependent CASP1 activation and IL1B release in macrophages (PubMed:18511561). Component of an autophagy-mediated antibacterial pathway together with ATG16L1 (PubMed:20637199). Plays also a role in sensing single-stranded RNA (ssRNA) from viruses. Interacts with mitochondrial antiviral signaling/MAVS, leading to activation of interferon regulatory factor-3/IRF3 and expression of type I interferon (PubMed:19701189). Polyubiquitinated following MDP stimulation, leading to proteasome-mediated degradation (PubMed:23019338). NA NOD-like receptor signaling pathway;Shigellosis;Tuberculosis;NOD1/2 Signaling Pathway;activated TAK1 mediates p38 MAPK activation;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;Ovarian tumor domain proteases;Interleukin-1 signaling PE1 16 +NX_Q9HC35 Echinoderm microtubule-associated protein-like 4 981 108916 5.96 0 Cytosol;Cytoskeleton NA May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic. NA Belongs to the WD repeat EMAP family. NA PE1 2 +NX_Q9HC36 rRNA methyltransferase 3, mitochondrial 420 47020 8.89 0 Mitochondrion NA S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methylguanosine at position 1370 (Gm1370) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a conserved modification in the peptidyl transferase domain of the mtLSU rRNA. NA Belongs to the class IV-like SAM-binding methyltransferase superfamily. RNA methyltransferase TrmH family. rRNA modification in the mitochondrion PE1 17 +NX_Q9HC38 Glyoxalase domain-containing protein 4 313 34793 5.4 0 Nucleoplasm;Cytosol;Mitochondrion;Nucleolus NA NA NA Belongs to the glyoxalase I family. NA PE1 17 +NX_Q9HC44 Vasculin-like protein 1 474 52302 6.36 0 Nucleoplasm;Focal adhesion;Nucleus;Cell membrane NA Possible transcription factor. NA Belongs to the vasculin family. NA PE1 1 +NX_Q9HC47 Cutaneous T-cell lymphoma-associated antigen 1 74 8406 5.3 2 Membrane NA NA NA NA NA PE2 18 +NX_Q9HC52 Chromobox protein homolog 8 389 43396 9.92 0 Nucleoplasm;Nucleus NA Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. NA NA SUMOylation of DNA damage response and repair proteins;Oxidative Stress Induced Senescence;SUMOylation of RNA binding proteins;SUMOylation of chromatin organization proteins;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known;Regulation of PTEN gene transcription;SUMOylation of transcription cofactors;SUMOylation of DNA methylation proteins PE1 17 +NX_Q9HC56 Protocadherin-9 1237 136064 5.26 1 Nucleoplasm;Centrosome;Cell membrane NA Potential calcium-dependent cell-adhesion protein. NA NA NA PE1 13 +NX_Q9HC57 WAP four-disulfide core domain protein 1 220 23977 8.77 0 Secreted NA Has growth inhibitory activity. NA NA NA PE1 16 +NX_Q9HC58 Sodium/potassium/calcium exchanger 3 644 71992 5.19 10 Membrane;Golgi apparatus NA Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). NA Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily. Sodium/Calcium exchangers PE1 20 +NX_Q9HC62 Sentrin-specific protease 2 589 67855 9.54 0 Cytoplasm;Cytosol;Nucleus membrane;Nuclear pore complex NA Protease that catalyzes two essential functions in the SUMO pathway. The first is the hydrolysis of an alpha-linked peptide bond at the C-terminal end of the small ubiquitin-like modifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to the mature form of the proteins. The second is the deconjugation of SUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving an epsilon-linked peptide bond between the C-terminal glycine of the mature SUMO and the lysine epsilon-amino group of the target protein. May down-regulate CTNNB1 levels and thereby modulate the Wnt pathway. Deconjugates SUMO2 from MTA1. Plays a dynamic role in adipogenesis by desumoylating and promoting the stabilization of CEBPB (PubMed:20194620). Polyubiquitinated; which leads to proteasomal degradation. Belongs to the peptidase C48 family. RNA transport;Wnt signaling pathway;SUMO is proteolytically processed PE1 3 +NX_Q9HC73 Cytokine receptor-like factor 2 371 42013 5.11 1 Secreted;Cell membrane NA Receptor for thymic stromal lymphopoietin (TSLP). Forms a functional complex with TSLP and IL7R which is capable of stimulating cell proliferation through activation of STAT3 and STAT5. Also activates JAK2 (By similarity). Implicated in the development of the hematopoietic system. NA Belongs to the type I cytokine receptor family. Type 5 subfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-7 signaling PE1 X +NX_Q9HC77 Centromere protein J 1338 153000 6.23 0 Nucleoplasm;Centrosome;Cell membrane;Centriole Seckel syndrome 4;Microcephaly 6, primary, autosomal recessive Plays an important role in cell division and centrosome function by participating in centriole duplication (PubMed:17681131, PubMed:20531387). Inhibits microtubule nucleation from the centrosome. Involved in the regulation of slow processive growth of centriolar microtubules. Acts as microtubule plus-end tracking protein that stabilizes centriolar microtubules and inhibits microtubule polymerization and extension from the distal ends of centrioles (PubMed:15047868, PubMed:27219064, PubMed:27306797). Required for centriole elongation and for STIL-mediated centriole amplification (PubMed:22020124). Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865). May be involved in the control of centriolar-microtubule growth by acting as a regulator of tubulin release (PubMed:27306797). Phosphorylation at Ser-589 and Ser-595 by PLK2 is required for procentriole formation and centriole elongation. Phosphorylation by PLK2 oscillates during the cell cycle: it increases at G1/S transition and decreases during the exit from mitosis. Phosphorylation at Ser-595 is also mediated by PLK4 but is not a critical step in PLK4 function in procentriole assembly. Belongs to the TCP10 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 13 +NX_Q9HC78 Zinc finger and BTB domain-containing protein 20 741 81083 6.03 0 Nucleoplasm;Nucleus Primrose syndrome May be a transcription factor that may be involved in hematopoiesis, oncogenesis, and immune responses (PubMed:11352661). Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal (By similarity). Sumoylated with SUMO1. NA NA PE1 3 +NX_Q9HC84 Mucin-5B 5762 596340 6.2 0 Cytoplasmic vesicle;Secreted Pulmonary fibrosis, idiopathic Gel-forming mucin that is thought to contribute to the lubricating and viscoelastic properties of whole saliva and cervical mucus. Highly glycosylated. C-, N- and O-glycosylated. C-mannosylated in the Cys-rich subdomains probably on the first Trp residue of the WXXW motif. Highly O-glycosylated in the Ser/Thr-rich tandem repeat (TR) region. The repeat region is about 59% O-glycosylated with a high abundance of NeuAc(2)Hex(1)HexNac1-ol. NA Salivary secretion;O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1) PE1 11 +NX_Q9HC96 Calpain-10 672 74952 7.97 0 Nucleoplasm;Cytosol Diabetes mellitus, non-insulin-dependent, 1 Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. May play a role in insulin-stimulated glucose uptake. NA Belongs to the peptidase C2 family. Degradation of the extracellular matrix PE1 2 +NX_Q9HC97 G-protein coupled receptor 35 309 34072 9.06 7 Cell membrane NA Acts as a receptor for kynurenic acid, an intermediate in the tryptophan metabolic pathway. The activity of this receptor is mediated by G-proteins that elicit calcium mobilization and inositol phosphate production through G(qi/o) proteins. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Class A/1 (Rhodopsin-like receptors) PE1 2 +NX_Q9HC98 Serine/threonine-protein kinase Nek6 313 35714 8.26 0 Cytoplasm;Nucleus speckle;Centriolar satellite;Nucleoplasm;Spindle pole;Centrosome;Cytosol;Nucleus NA Protein kinase which plays an important role in mitotic cell cycle progression (PubMed:14563848). Required for chromosome segregation at metaphase-anaphase transition, robust mitotic spindle formation and cytokinesis (PubMed:19414596). Phosphorylates ATF4, CIR1, PTN, RAD26L, RBBP6, RPS7, RPS6KB1, TRIP4, STAT3 and histones H1 and H3 (PubMed:12054534, PubMed:20873783). Phosphorylates KIF11 to promote mitotic spindle formation (PubMed:19001501). Involved in G2/M phase cell cycle arrest induced by DNA damage (PubMed:18728393). Inhibition of activity results in apoptosis. May contribute to tumorigenesis by suppressing p53/TP53-induced cancer cell senescence (PubMed:21099361). Autophosphorylated. Phosphorylation at Ser-206 is required for its activation. Phosphorylated upon IR or UV-induced DNA damage. Phosphorylated by CHEK1 and CHEK2. Interaction with APBB1 down-regulates phosphorylation at Thr-210.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);NEK6 is phosphorylated by CHEK2 Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. Nuclear Pore Complex (NPC) Disassembly;Activation of NIMA Kinases NEK9, NEK6, NEK7 PE1 9 +NX_Q9HCB6 Spondin-1 807 90973 5.85 0 Nucleoplasm;Extracellular matrix;Nucleolus;Cytoskeleton NA Cell adhesion protein that promotes the attachment of spinal cord and sensory neuron cells and the outgrowth of neurites in vitro. May contribute to the growth and guidance of axons in both the spinal cord and the PNS (By similarity). Major factor for vascular smooth muscle cell. NA NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 11 +NX_Q9HCC0 Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial 563 61333 7.58 0 Mitochondrion matrix;Mitochondrion 3-methylcrotonoyl-CoA carboxylase 2 deficiency Carboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism. NA Belongs to the AccD/PCCB family. Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 2/3.;Valine, leucine and isoleucine degradation;Metabolic pathways;Branched-chain amino acid catabolism;Biotin transport and metabolism;Defective HLCS causes multiple carboxylase deficiency PE1 5 +NX_Q9HCC6 Transcription factor HES-4 221 23523 11.11 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytosol NA Transcriptional repressor. Binds DNA on N-box motifs: 5'-CACNAG-3' (By similarity). NA NA NA PE1 1 +NX_Q9HCC8 Glycerophosphoinositol inositolphosphodiesterase GDPD2 539 61729 8.77 6 Cytoplasm;Cell membrane;Cytoskeleton NA Has glycerophosphoinositol inositolphosphodiesterase activity and specifically hydrolyzes glycerophosphoinositol, with no activity for other substrates such as glycerophosphoinositol 4-phosphate, glycerophosphocholine, glycerophosphoethanolamine, and glycerophosphoserine. Accelerates the program of osteoblast differentiation and growth. May play a role in remodeling of the actin cytoskeleton (By similarity). NA Belongs to the glycerophosphoryl diester phosphodiesterase family. NA PE1 X +NX_Q9HCC9 Lateral signaling target protein 2 homolog 887 96490 4.99 0 Early endosome membrane;Nucleoplasm;Cytosol;Cell membrane NA Negative regulator of epidermal growth factor receptor (EGFR) signaling. Acts by promoting EGFR degradation in endosomes when not monoubiquitinated. Monoubiquitination at Lys-87 prevents binding to phosphatidylinositol 3-phosphate (PI3P) and localization to early endosome membranes. Belongs to the lst-2 family. NA PE1 4 +NX_Q9HCD5 Nuclear receptor coactivator 5 579 65536 9.62 0 Nucleoplasm;Nucleus;Cytoskeleton NA Nuclear receptor coregulator that can have both coactivator and corepressor functions. Interacts with nuclear receptors for steroids (ESR1 and ESR2) independently of the steroid binding domain (AF-2) of the ESR receptors, and with the orphan nuclear receptor NR1D2. Involved in the coactivation of nuclear steroid receptors (ER) as well as the corepression of MYC in response to 17-beta-estradiol (E2). NA NA NA PE1 20 +NX_Q9HCD6 Protein TANC2 1990 219650 8.31 0 Cytosol NA NA NA Belongs to the TANC family. NA PE1 17 +NX_Q9HCE0 Ectopic P granules protein 5 homolog 2579 292481 5.99 0 Lysosome;Nucleus speckle;Perinuclear region Vici syndrome Involved in autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo. Plays a key role in innate and adaptive immune response triggered by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides from pathogens, and mediated by the nucleotide-sensing receptor TLR9. It is necessary for the translocation of CpG dinucleotides from early endosomes to late endosomes and lysosomes, where TLR9 is located (PubMed:29130391). NA Belongs to the EPG5 family. NA PE1 18 +NX_Q9HCE1 Helicase MOV-10 1003 113671 9 0 Cytoplasm;Stress granule;Cytoplasmic ribonucleoprotein granule;P-body;Cytosol;Nucleus NA (Microbial infection) Required for RNA-directed transcription and replication of the human hepatitis delta virus (HDV). Interacts with small capped HDV RNAs derived from genomic hairpin structures that mark the initiation sites of RNA-dependent HDV RNA transcription.;5' to 3' RNA helicase contributing to UPF1 mRNA target degradation by translocation along 3' UTRs (PubMed:24726324). Required for microRNA (miRNA)-mediated gene silencing by the RNA-induced silencing complex (RISC). Required for both miRNA-mediated translational repression and miRNA-mediated cleavage of complementary mRNAs by RISC (PubMed:16289642, PubMed:17507929, PubMed:22791714). In cooperation with FMR1, regulates miRNA-mediated translational repression by AGO2 (PubMed:25464849). Restricts retrotransposition of long interspersed element-1 (LINE-1) in cooperation with TUT4 and TUT7 counteracting the RNA chaperonne activity of L1RE1 (PubMed:30122351, PubMed:23093941). Facilitates LINE-1 uridylation by TUT4 and TUT7 (PubMed:30122351). Required for embryonic viability and for normal central nervous system development and function. Plays two critical roles in early brain development: suppresses retroelements in the nucleus by directly inhibiting cDNA synthesis, while regulates cytoskeletal mRNAs to influence neurite outgrowth in the cytosol (By similarity). May function as a messenger ribonucleoprotein (mRNP) clearance factor (PubMed:24726324). Exhibits antiviral activity against dengue virus (DENV) (PubMed:27974568). NA Belongs to the DNA2/NAM7 helicase family. SDE3 subfamily. MAPK6/MAPK4 signaling;Oxidative Stress Induced Senescence;Pre-NOTCH Transcription and Translation;TP53 Regulates Metabolic Genes;Ca2+ pathway;Oncogene Induced Senescence;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Regulation of RUNX1 Expression and Activity;Regulation of PTEN mRNA translation;Competing endogenous RNAs (ceRNAs) regulate PTEN translation;Estrogen-dependent gene expression;Transcriptional Regulation by MECP2;Regulation of MECP2 expression and activity PE1 1 +NX_Q9HCE3 Zinc finger protein 532 1301 141696 8.92 0 Golgi apparatus;Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 18 +NX_Q9HCE5 N6-adenosine-methyltransferase non-catalytic subunit 456 52150 5.89 0 Nucleoplasm;Nucleus NA The METTL3-METTL14 heterodimer forms a N6-methyltransferase complex that methylates adenosine residues at the N(6) position of some mRNAs and regulates the circadian clock, differentiation of embryonic stem cells and cortical neurogenesis (PubMed:24316715, PubMed:24407421, PubMed:25719671, PubMed:29348140, PubMed:27373337, PubMed:27281194). In the heterodimer formed with METTL3, METTL14 constitutes the RNA-binding scaffold that recognizes the substrate rather than the catalytic core (PubMed:27627798, PubMed:27373337, PubMed:27281194, PubMed:29348140). N6-methyladenosine (m6A), which takes place at the 5'-[AG]GAC-3' consensus sites of some mRNAs, plays a role in mRNA stability and processing (PubMed:24316715, PubMed:24407421, PubMed:25719671). M6A acts as a key regulator of mRNA stability by promoting mRNA destabilization and degradation (By similarity). In embryonic stem cells (ESCs), m6A methylation of mRNAs encoding key naive pluripotency-promoting transcripts results in transcript destabilization (By similarity). M6A regulates spermatogonial differentiation and meiosis and is essential for male fertility and spermatogenesis (By similarity). M6A also regulates cortical neurogenesis: m6A methylation of transcripts related to transcription factors, neural stem cells, the cell cycle and neuronal differentiation during brain development promotes their destabilization and decay, promoting differentiation of radial glial cells (By similarity). NA Belongs to the MT-A70-like family. Processing of Capped Intron-Containing Pre-mRNA PE1 4 +NX_Q9HCE6 Rho guanine nucleotide exchange factor 10-like protein 1279 140379 5.62 0 Golgi apparatus;Cytosol;Cytoplasm;Cytoplasmic vesicle NA Acts as guanine nucleotide exchange factor (GEF) for RHOA, RHOB and RHOC. NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 1 +NX_Q9HCE7 E3 ubiquitin-protein ligase SMURF1 757 86114 6.56 0 Nucleoplasm;Cytoplasm;Cell membrane;Cytoplasmic vesicle NA E3 ubiquitin-protein ligase that acts as a negative regulator of BMP signaling pathway. Mediates ubiquitination and degradation of SMAD1 and SMAD5, 2 receptor-regulated SMADs specific for the BMP pathway. Promotes ubiquitination and subsequent proteasomal degradation of TRAF family members and RHOA. Promotes ubiquitination and subsequent proteasomal degradation of MAVS (PubMed:23087404). Plays a role in dendrite formation by melanocytes (PubMed:23999003). Auto-ubiquitinated in presence of NDFIP1 (PubMed:23087404). Ubiquitinated by the SCF(FBXL15) complex at Lys-381 and Lys-383, leading to its degradation by the proteasome. Lys-383 is the primary ubiquitination site. NA Protein modification; protein ubiquitination.;Asymmetric localization of PCP proteins;Hedgehog 'on' state;Antigen processing: Ubiquitination & Proteasome degradation;TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition);Signaling by BMP;Downregulation of TGF-beta receptor signaling;Regulation of RUNX3 expression and activity;Regulation of RUNX2 expression and activity PE1 7 +NX_Q9HCE9 Anoctamin-8 1232 136034 5.62 8 Nucleoplasm;Nucleolus;Cell membrane NA Does not exhibit calcium-activated chloride channel (CaCC) activity. NA Belongs to the anoctamin family. Stimuli-sensing channels;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 19 +NX_Q9HCF6 Transient receptor potential cation channel subfamily M member 3 1732 197571 6.74 7 Membrane;Cytoplasmic vesicle NA Calcium channel mediating constitutive calcium ion entry. Its activity is increased by reduction in extracellular osmolarity, by store depletion and muscarinic receptor activation. NA Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM3 sub-subfamily. TRP channels PE1 9 +NX_Q9HCG1 Zinc finger protein 160 818 94112 9.44 0 Cytosol;Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9HCG7 Non-lysosomal glucosylceramidase 927 104649 5.61 0 Golgi apparatus;Endoplasmic reticulum membrane;Nucleoplasm;Golgi apparatus membrane;Cytosol Spastic paraplegia 46, autosomal recessive Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramide (GlcCer) to free glucose and ceramide (PubMed:17105727, PubMed:30308956). Glucosylceramides are membrane glycosphingolipids that have a wide intracellular distribution (By similarity). They are the main precursors of more complex glycosphingolipids that play a role in cellular growth, differentiation, adhesion, signaling, cytoskeletal dynamics and membrane properties (By similarity). Also involved in the transglucosylation of cholesterol, transferring glucose from glucosylceramides, thereby modifying its water solubility and biological properties (By similarity). Under specific conditions, may catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide (By similarity). Finally, may also play a role in the metabolism of bile acids (PubMed:11489889, PubMed:9111029, PubMed:17080196). It is able to hydrolyze bile acid 3-O-glucosides but also to produce bile acid-glucose conjugates thanks to a bile acid glucosyl transferase activity (PubMed:11489889, PubMed:9111029, PubMed:17080196). However, the relevance of both activities is unclear in vivo (By similarity). NA Belongs to the non-lysosomal glucosylceramidase family. Lipid metabolism; sphingolipid metabolism.;Steroid metabolism; cholesterol metabolism.;Glycosphingolipid metabolism PE1 9 +NX_Q9HCG8 Pre-mRNA-splicing factor CWC22 homolog 908 105466 6.6 0 Cytosol;Nucleus speckle;Nucleus NA Required for pre-mRNA splicing as component of the spliceosome (PubMed:12226669, PubMed:11991638, PubMed:22961380, PubMed:28502770, PubMed:28076346, PubMed:29360106, PubMed:29301961). Promotes exon-junction complex (EJC) assembly (PubMed:22959432, PubMed:22961380). Hinders EIF4A3 from non-specifically binding RNA and escorts it to the splicing machinery to promote EJC assembly on mature mRNAs. Through its role in EJC assembly, required for nonsense-mediated mRNA decay. NA Belongs to the CWC22 family. mRNA Splicing - Major Pathway PE1 2 +NX_Q9HCH0 Nck-associated protein 5-like 1330 139013 8.45 0 Golgi apparatus;Centrosome NA Regulates microtubule organization and stabilization. Promotes microtubule growth and bundling formation and stabilizes microtubules by increasing intense acetylation of microtubules (PubMed:26482847, PubMed:26485573). Both tubulin-binding and homodimer formation are required for NCKAP5L-mediated microtubule bundle formation (PubMed:26485573). CDK1/Cyclin B-dependent phosphorylation mediates its dissociation from centrosomes during mitosis. NA NA PE1 12 +NX_Q9HCH3 Copine-5 593 65734 5.65 0 Cytosol;Perikaryon;Cell projection NA Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003). NA Belongs to the copine family. NA PE1 6 +NX_Q9HCH5 Synaptotagmin-like protein 2 934 104930 7.96 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane NA Acts as a RAB27A effector protein and plays a role in cytotoxic granule exocytosis in lymphocytes. It is required for cytotoxic granule docking at the immunologic synapse.;Binds phosphatidylserine (PS) and phosphatidylinositol-4,5-bisphosphate (PIP2) and promotes the recruitment of glucagon-containing granules to the cell membrane in pancreatic alpha cells. Binding to PS is inhibited by Ca(2+) while binding to PIP2 is Ca(2+) insensitive. Is highly susceptible to proteolytic degradation and is stabilized by the interaction with RAB27A. NA NA PE1 11 +NX_Q9HCI5 Melanoma-associated antigen E1 957 103254 5.24 0 Cell membrane;Cytosol;Perinuclear region;Nucleus;Cytoskeleton NA May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. NA NA NA PE1 X +NX_Q9HCI6 E3 SUMO-protein ligase KIAA1586 787 89673 7.78 0 Nucleoplasm;Nucleus membrane NA E3 SUMO-protein ligase; facilitates UBE2I/UBC9-mediated SUMO2 modification of target proteins (PubMed:26524493). NA NA Protein modification; protein sumoylation. PE1 6 +NX_Q9HCI7 E3 ubiquitin-protein ligase MSL2 577 62541 8.11 0 Nucleoplasm;Midbody NA Component of histone acetyltransferase complex responsible for the majority of histone H4 acetylation at lysine 16 which is implicated in the formation of higher-order chromatin structure. Acts as an E3 ubiquitin ligase that promotes monoubiquitination of histone H2B at 'Lys-35' (H2BK34Ub), but not that of H2A. This activity is greatly enhanced by heterodimerization with MSL1. H2B ubiquitination in turn stimulates histine H3 methylation at 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) and leads to gene activation, including that of HOXA9 and MEIS1. NA Belongs to the MSL2 family. HATs acetylate histones PE1 3 +NX_Q9HCJ0 Trinucleotide repeat-containing gene 6C protein 1690 175964 6.47 0 Nucleoplasm NA Plays a role in RNA-mediated gene silencing by micro-RNAs (miRNAs). Required for miRNA-dependent translational repression of complementary mRNAs by argonaute family proteins. As scaffoldng protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4-NOT and PAN deadenylase complexes. NA Belongs to the GW182 family. MAPK6/MAPK4 signaling;Oxidative Stress Induced Senescence;Pre-NOTCH Transcription and Translation;TP53 Regulates Metabolic Genes;Ca2+ pathway;Post-transcriptional silencing by small RNAs;Oncogene Induced Senescence;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Regulation of RUNX1 Expression and Activity;Regulation of PTEN mRNA translation;Competing endogenous RNAs (ceRNAs) regulate PTEN translation;Estrogen-dependent gene expression;Transcriptional Regulation by MECP2;Regulation of MECP2 expression and activity PE1 17 +NX_Q9HCJ1 Progressive ankylosis protein homolog 492 54241 8 8 Membrane;Cytosol Craniometaphyseal dysplasia, autosomal dominant;Chondrocalcinosis 2 Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter. NA Belongs to the ANKH family. Miscellaneous transport and binding events PE1 5 +NX_Q9HCJ2 Leucine-rich repeat-containing protein 4C 640 71950 6.7 1 Cytosol;Postsynaptic cell membrane NA May promote neurite outgrowth of developing thalamic neurons. NA NA Axon guidance PE1 11 +NX_Q9HCJ3 Ribonucleoprotein PTB-binding 2 691 74339 7.12 0 Nucleoplasm;Cytoplasm;Nucleus NA May bind single-stranded nucleic acids. NA NA NA PE1 1 +NX_Q9HCJ5 Zinc finger SWIM domain-containing protein 6 1215 133470 7.01 0 Cytosol Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features;Acromelic frontonasal dysostosis Involved in nervous system development, important for striatal morphology and motor regulation. NA NA NA PE1 5 +NX_Q9HCJ6 Synaptic vesicle membrane protein VAT-1 homolog-like 419 45899 4.98 0 Cytosol NA NA NA Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily. NA PE1 16 +NX_Q9HCK0 Zinc finger and BTB domain-containing protein 26 441 49953 6.62 0 Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 9 +NX_Q9HCK1 DBF4-type zinc finger-containing protein 2 2354 265618 5.79 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 2 +NX_Q9HCK4 Roundabout homolog 2 1378 151200 5.95 1 Membrane;Nucleoplasm;Centriolar satellite Vesicoureteral reflux 2 Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development. NA Belongs to the immunoglobulin superfamily. ROBO family. Axon guidance;Signaling by ROBO receptors;Regulation of commissural axon pathfinding by SLIT and ROBO;Regulation of expression of SLITs and ROBOs;ROBO receptors bind AKAP5;Regulation of cortical dendrite branching PE1 3 +NX_Q9HCK5 Protein argonaute-4 861 97097 9.21 0 P-body NA Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Also required for RNA-directed transcription and replication of the human hapatitis delta virus (HDV). NA Belongs to the argonaute family. Ago subfamily. MAPK6/MAPK4 signaling;Oxidative Stress Induced Senescence;MicroRNA (miRNA) biogenesis;Pre-NOTCH Transcription and Translation;Small interfering RNA (siRNA) biogenesis;TP53 Regulates Metabolic Genes;Ca2+ pathway;Post-transcriptional silencing by small RNAs;Oncogene Induced Senescence;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Regulation of RUNX1 Expression and Activity;Regulation of PTEN mRNA translation;Competing endogenous RNAs (ceRNAs) regulate PTEN translation;Estrogen-dependent gene expression;Transcriptional Regulation by MECP2;Regulation of MECP2 expression and activity PE1 1 +NX_Q9HCK8 Chromodomain-helicase-DNA-binding protein 8 2581 290519 6.04 0 Nucleoplasm;Nucleus;Cell membrane Autism 18 DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase III transcription. Sumoylated. Belongs to the SNF2/RAD54 helicase family. CHD8 subfamily. Wnt signaling pathway;Deactivation of the beta-catenin transactivating complex PE1 14 +NX_Q9HCL0 Protocadherin-18 1135 126149 4.99 1 Golgi apparatus;Cytosol;Cell membrane NA Potential calcium-dependent cell-adhesion protein. NA NA NA PE1 4 +NX_Q9HCL2 Glycerol-3-phosphate acyltransferase 1, mitochondrial 828 93795 7.81 2 Mitochondrion outer membrane;Mitochondrion NA Esterifies acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis. NA Belongs to the GPAT/DAPAT family. Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 1/3.;Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PA;Triglyceride biosynthesis;Activation of gene expression by SREBF (SREBP);RUNX1 regulates estrogen receptor mediated transcription;Estrogen-dependent gene expression PE1 10 +NX_Q9HCL3 Zinc finger protein 14 homolog 533 63463 8.92 0 Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9HCM1 Retroelement silencing factor 1 1747 194857 8.95 0 Nucleus;Cytosol;Nucleolus;Cytoskeleton NA Plays a role in the regulation of imprinted gene expression, regulates repressive epigenetic modifications associated with SETDB1. Required for the recruitment or accumulation of SETDB1 to the endogenous retroviruses (ERVs) and maintenance of repressive chromatin configuration, contributing to a subset of the SETDB1-dependent ERV silencing in embryonic stem cells. NA NA NA PE1 12 +NX_Q9HCM2 Plexin-A4 1894 212455 6.42 1 Cell membrane NA Coreceptor for SEMA3A. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance in the developing nervous system. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm (By similarity). NA Belongs to the plexin family. SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion;Sema3A PAK dependent Axon repulsion;CRMPs in Sema3A signaling;Other semaphorin interactions;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 7 +NX_Q9HCM3 UPF0606 protein KIAA1549 1950 210755 5.75 2 Membrane;Nucleus membrane;Cytoskeleton NA NA O-glycosylated. O-mannosylated by POMT1 and POMT2 and elongated by POMGNT1. Belongs to the UPF0606 family. Signaling by BRAF and RAF fusions PE1 7 +NX_Q9HCM4 Band 4.1-like protein 5 733 81856 6.15 0 Cytoplasm;Adherens junction;Cell membrane NA May contribute to the correct positioning of tight junctions during the establishment of polarity in epithelial cells. NA NA Neurexins and neuroligins PE1 2 +NX_Q9HCM7 Fibrosin-1-like protein 1045 110907 9.7 0 Nucleoplasm;Cytosol;Cell membrane NA NA NA Belongs to the AUTS2 family. NA PE1 12 +NX_Q9HCM9 E3 ubiquitin-protein ligase TRIM39 518 59690 7.8 0 Cytosol;Mitochondrion NA E3 ubiquitin-protein ligase. May facilitate apoptosis by inhibiting APC/C-Cdh1-mediated poly-ubiquitination and subsequent proteasome-mediated degradation of the pro-apoptotic protein MOAP1. Autoubiquitinated. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 6 +NX_Q9HCN2 p53-regulated apoptosis-inducing protein 1 124 12935 10.26 0 Mitochondrion NA May play an important role in mediating p53/TP53-dependent apoptosis. NA NA p53 signaling pathway;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release PE2 11 +NX_Q9HCN3 Post-GPI attachment to proteins factor 6 771 84761 7.67 7 Nucleoplasm;Lysosome membrane;Cytoskeleton;Cell membrane NA Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchor proteins (GPI-AP). Has phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI. Required for the shedding of the GPI-AP TDGF1, but not CFC1, at the cell surface. Shedding of TDGF1 modulates Nodal signaling by allowing soluble TDGF1 to act as a Nodal coreceptor on other cells (PubMed:27881714). Also indirectly involved in the translocation of RAC1 from the cytosol to the plasma membrane by maintaining the steady state amount of CAV1-enriched plasma membrane subdomains, stabilizing RAC1 at the plasma membrane (PubMed:27835684). In contrast to myomaker (TMEM8C), has no fusogenic activity (PubMed:26858401). Glycosylated. Belongs to the TMEM8 family. NA PE1 16 +NX_Q9HCN4 GPN-loop GTPase 1 374 41740 4.8 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cytosol;Nucleus NA Small GTPase required for proper nuclear import of RNA polymerase II (RNAPII) (PubMed:20855544, PubMed:21768307). May act at an RNAP assembly step prior to nuclear import (PubMed:21768307). Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding proteins, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation (PubMed:17643375). May be involved in nuclear localization of XPA (PubMed:11058119). NA Belongs to the GPN-loop GTPase family. NA PE1 2 +NX_Q9HCN6 Platelet glycoprotein VI 339 36866 9.35 1 Nucleoplasm;Cell membrane Bleeding disorder, platelet-type 11 Collagen receptor involved in collagen-induced platelet adhesion and activation. Plays a key role in platelet procoagulant activity and subsequent thrombin and fibrin formation. This procoagulant function may contribute to arterial and venous thrombus formation. The signaling pathway involves the FcR gamma-chain, the Src kinases (likely FYN or LYN) and SYK, the adapter protein LAT and leads to the activation of PLCG2. N-linked glycosylation at Asn-92 is not required for the cell surface expression, but contributes to maximal adhesion to type I collagen, collagen-related peptide (CRP), and, to a lesser extent, to the snake venom C-type lectin convulxin (CVX). NA ECM-receptor interaction;GPVI-mediated activation cascade;Cell surface interactions at the vascular wall;Platelet Adhesion to exposed collagen PE1 19 +NX_Q9HCN8 Stromal cell-derived factor 2-like protein 1 221 23598 6.52 0 Endoplasmic reticulum lumen NA NA NA NA NA PE1 22 +NX_Q9HCP0 Casein kinase I isoform gamma-1 422 48511 9.13 0 Cytoplasm;Cytosol NA Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity). Phosphorylates CLSPN. Autophosphorylated. Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. Casein kinase I subfamily. Hedgehog signaling pathway PE1 15 +NX_Q9HCP6 Protein-cysteine N-palmitoyltransferase HHAT-like protein 504 56703 6.67 8 Endoplasmic reticulum membrane NA Negatively regulates N-terminal palmitoylation of SHH by HHAT/SKN. NA Belongs to the membrane-bound acyltransferase family. HHAT subfamily. NA PE1 3 +NX_Q9HCQ5 Polypeptide N-acetylgalactosaminyltransferase 9 603 68359 8.73 1 Cytoplasmic vesicle;Golgi apparatus membrane NA Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Does not glycosylate apomucin or SDC3. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 12 +NX_Q9HCQ7 Pro-FMRFamide-related neuropeptide VF 196 22309 9.26 0 Secreted NA Neuropeptide RFRP-1 acts as a potent negative regulator of gonadotropin synthesis and secretion. Neuropeptides NPSF and NPVF efficiently inhibit forskolin-induced production of cAMP, but RFRP-2 shows no inhibitory activity. Neuropeptide RFRP-1 induces secretion of prolactin in rats. Neuropeptide NPVF blocks morphine-induced analgesia. NA Belongs to the FARP (FMRFamide related peptide) family. NA PE1 7 +NX_Q9HCR9 Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A 933 104752 6.15 0 Cytosol Primary pigmented nodular adrenocortical disease 2 Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP. Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP and 5'-GMP, respectively. NA Belongs to the cyclic nucleotide phosphodiesterase family. Purine metabolism;G alpha (s) signalling events;cGMP effects PE1 2 +NX_Q9HCS2 Cytochrome P450 4F12 524 60309 7.29 2 Microsome membrane;Endoplasmic reticulum membrane NA A cytochrome P450 monooxygenase involved in the metabolism of endogenous polyunsaturated fatty acids (PUFAs). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). Catalyzes the hydroxylation of carbon hydrogen bonds, with preference for omega-2 position. Metabolizes (5Z,8Z,11Z,14Z)-eicosatetraenoic acid (arachidonate) toward 18-hydroxy arachidonate (PubMed:11162607). Catalyzes the epoxidation of double bonds of PUFAs such as docosapentaenoic and docosahexaenoic acids (PubMed:16112640). Has low omega-hydroxylase activity toward leukotriene B4 and arachidonate (PubMed:11162645). Involved in the metabolism of xenobiotics. Catalyzes the hydroxylation of the antihistamine drug ebastine (PubMed:11162645). NA Belongs to the cytochrome P450 family. Lipid metabolism; arachidonate metabolism.;Fatty acids;Eicosanoids PE1 19 +NX_Q9HCS4 Transcription factor 7-like 1 588 62631 9 0 Nucleoplasm;Cytosol;Nucleus NA Participates in the Wnt signaling pathway. Binds to DNA and acts as a repressor in the absence of CTNNB1, and as an activator in its presence. Necessary for the terminal differentiation of epidermal cells, the formation of keratohyalin granules and the development of the barrier function of the epidermis (By similarity). Down-regulates NQO1, leading to increased mitomycin c resistance. NA Belongs to the TCF/LEF family. Wnt signaling pathway;Adherens junction;Melanogenesis;Pathways in cancer;Colorectal cancer;Endometrial cancer;Prostate cancer;Thyroid cancer;Basal cell carcinoma;Acute myeloid leukemia;Arrhythmogenic right ventricular cardiomyopathy (ARVC);Formation of the beta-catenin:TCF transactivating complex;Ca2+ pathway;Deactivation of the beta-catenin transactivating complex;Binding of TCF/LEF:CTNNB1 to target gene promoters;Repression of WNT target genes;RUNX3 regulates WNT signaling PE1 2 +NX_Q9HCS5 Band 4.1-like protein 4A 686 79059 9.44 0 Nucleoplasm;Cytoskeleton;Cell membrane NA NA NA NA NA PE1 5 +NX_Q9HCS7 Pre-mRNA-splicing factor SYF1 855 100010 5.87 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). Involved in transcription-coupled repair (TCR), transcription and pre-mRNA splicing (PubMed:10944529, PubMed:17981804). NA Belongs to the crooked-neck family. Spliceosome;mRNA Splicing - Major Pathway;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER PE1 19 +NX_Q9HCT0 Fibroblast growth factor 22 170 19663 11.81 0 Secreted NA Plays a role in the fasting response, glucose homeostasis, lipolysis and lipogenesis. Can stimulate cell proliferation (in vitro). May be involved in hair development. NA Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;RAF/MAP kinase cascade;FGFR2b ligand binding and activation;PI3K Cascade;PIP3 activates AKT signaling;Activated point mutants of FGFR2;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade: FGFR1;Phospholipase C-mediated cascade, FGFR2;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Signaling by FGFR2 in disease;FGFR1b ligand binding and activation;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Downstream signaling of activated FGFR1;FGFRL1 modulation of FGFR1 signaling PE1 19 +NX_Q9HCU0 Endosialin 757 80859 5.18 1 Membrane;Nucleoplasm;Cell membrane NA May play a role in tumor angiogenesis. O-glycosylated with sialylated oligosaccharides.;May be N-glycosylated. NA NA PE1 11 +NX_Q9HCU4 Cadherin EGF LAG seven-pass G-type receptor 2 2923 317453 5.14 7 Cytosol;Cell membrane NA Receptor that may have an important role in cell/cell signaling during nervous system formation. The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. NA PE1 1 +NX_Q9HCU5 Prolactin regulatory element-binding protein 417 45468 8.02 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus NA Was first identified based on its probable role in the regulation of pituitary gene transcription. Binds to the prolactin gene (PRL) promoter and seems to activate transcription.;Guanine nucleotide exchange factor that specifically activates the small GTPase SAR1B. Mediates the recruitment of SAR1B and other COPII coat components to endoplasmic reticulum membranes and is therefore required for the formation of COPII transport vesicles from the ER. NA NA Protein processing in endoplasmic reticulum;XBP1(S) activates chaperone genes;COPII-mediated vesicle transport;Cargo concentration in the ER PE1 2 +NX_Q9HCU8 DNA polymerase delta subunit 4 107 12433 6.29 0 Centriolar satellite;Nucleus NA As a component of the tetrameric DNA polymerase delta complex (Pol-delta4), plays a role in high fidelity genome replication and repair. Within this complex, increases the rate of DNA synthesis and decreases fidelity by regulating POLD1 polymerase and proofreading 3' to 5' exonuclease activity (PubMed:16510448, PubMed:19074196, PubMed:20334433). Pol-delta4 participates in Okazaki fragment processing, through both the short flap pathway, as well as a nick translation system (PubMed:24035200). Under conditions of DNA replication stress, required for the repair of broken replication forks through break-induced replication (BIR), a mechanism that may induce segmental genomic duplications of up to 200 kb (PubMed:24310611). Involved in Pol-delta4 translesion synthesis (TLS) of templates carrying O6-methylguanine or abasic sites (PubMed:19074196). Its degradation in response to DNA damage is required for the inhibition of fork progression and cell survival (PubMed:24022480). Ubiquitinated; undergoes 'Lys-48'-linked ubiquitination in response to UV irradiation, leading to proteasomal degradation (PubMed:17317665, PubMed:16934752, PubMed:23233665, PubMed:23913683). This modification is partly mediated by RNF8 and by the DCX(DTL) E3 ubiquitin ligase complex (also called CRL4(CDT2)) (PubMed:23233665, PubMed:24022480). Efficient degradation requires the presence of PCNA and is required for the inhibition of fork progression after DNA damage (PubMed:24022480). Belongs to the DNA polymerase delta subunit 4 family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;DNA replication;Base excision repair;Nucleotide excision repair;Mismatch repair;Homologous recombination;HTLV-I infection;Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha);Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta);Termination of translesion DNA synthesis;PCNA-Dependent Long Patch Base Excision Repair;Recognition of DNA damage by PCNA-containing replication complex;Polymerase switching on the C-strand of the telomere;Processive synthesis on the C-strand of the telomere;Telomere C-strand (Lagging Strand) Synthesis;Removal of the Flap Intermediate from the C-strand;Polymerase switching;Removal of the Flap Intermediate;Processive synthesis on the lagging strand;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Homologous Recombination (HRR);Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER PE1 11 +NX_Q9HCU9 Breast cancer metastasis-suppressor 1 246 28461 4.69 0 Endoplasmic reticulum;Cytoplasm;Centrosome;Nucleus NA Transcriptional repressor. Down-regulates transcription activation by NF-kappa-B by promoting the deacetylation of RELA at 'Lys-310'. Promotes HDAC1 binding to promoter regions. Down-regulates expression of anti-apoptotic genes that are controlled by NF-kappa-B. Promotes apoptosis in cells that have inadequate adherence to a substrate, a process called anoikis, and may thereby inhibit metastasis. May be a mediator of metastasis suppression in breast carcinoma. Ubiquitinated by a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containing SPOP, leading to proteasomal degradation. Belongs to the BRMS1 family. HDACs deacetylate histones PE1 11 +NX_Q9HCX3 Zinc finger protein 304 659 75047 8.73 0 Nucleus speckle;Nucleus NA Acts as transcriptional regulator and plays a role in gene silencing (PubMed:24623306, PubMed:26081979). Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of several tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (PubMed:24623306). Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) by inducing trimethylation of 'Lys-27' of histone H3 (H3K27me3) (PubMed:24623306) in a Polycomb group (PcG) complexes-dependent manner. Associates at promoter regions of TSGs and mediates the recruitment of the corepressor complex containing the scaffolding protein TRIM28, methyltransferase DNMT1 and histone methyltransferase SETDB1 and/or the PcG complexes at those sites (PubMed:24623306). Transcription factor involved in the metastatic cascade process by inducing cell migration and proliferation and gain resistance to anoikis of ovarian carcinoma (OC) cells via integrin-mediated signaling pathways (PubMed:26081979). Associates with the ITGB1 promoter and positively regulates beta-1 integrin transcription expression (PubMed:26081979). Promotes angiogenesis (PubMed:26081979). Promotes tumor growth (PubMed:24623306, PubMed:26081979). Deubiquitinated by USP28; the deubiquitination leads to the stabilization of ZNF304 from proteolytic degradation (PubMed:24623306). Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9HCX4 Short transient receptor potential channel 7 862 99562 8.02 6 Nucleus envelope;Focal adhesion;Cytoskeleton;Cell membrane NA Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) (By similarity). May also be activated by intracellular calcium store depletion. Phosphorylation by PRKG1 at Thr-15 negatively regulates TRPC7 activity. Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC7 sub-subfamily. TRP channels;Effects of PIP2 hydrolysis;Role of second messengers in netrin-1 signaling;Elevation of cytosolic Ca2+ levels PE1 5 +NX_Q9HCY8 Protein S100-A14 104 11662 5.16 0 Cytoplasm;Cell membrane;Cell junction;Cytosol;Nucleus NA Modulates P53/TP53 protein levels, and thereby plays a role in the regulation of cell survival and apoptosis. Depending on the context, it can promote cell proliferation or apoptosis. Plays a role in the regulation of cell migration by modulating the levels of MMP2, a matrix protease that is under transcriptional control of P53/TP53. Does not bind calcium. NA Belongs to the S-100 family. NA PE1 1 +NX_Q9HCZ1 Zinc finger protein 334 680 79649 9.33 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 20 +NX_Q9HD15 Steroid receptor RNA activator 1 236 25673 6.54 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA Functional RNA which acts as a transcriptional coactivator that selectively enhances steroid receptor-mediated transactivation ligand-independently through a mechanism involving the modulating N-terminal domain (AF-1) of steroid receptors. Also mediates transcriptional coactivation of steroid receptors ligand-dependently through the steroid-binding domain (AF-2). Enhances cellular proliferation and differentiation and promotes apoptosis in vivo. May play a role in tumorigenesis. NA Belongs to the SRA1 family. NA PE1 5 +NX_Q9HD20 Manganese-transporting ATPase 13A1 1204 132955 8.46 10 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA Mediates manganese transport into the endoplasmic reticulum. The ATPase activity is required for cellular manganese homeostasis. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. Ion transport by P-type ATPases PE1 19 +NX_Q9HD23 Magnesium transporter MRS2 homolog, mitochondrial 443 50318 6.44 2 Mitochondrion inner membrane NA Magnesium transporter that mediates the influx of magnesium into the mitochondrial matrix (PubMed:11401429, PubMed:18384665). Required for normal expression of the mitochondrial respiratory complex I subunits (PubMed:18384665). NA Belongs to the CorA metal ion transporter (MIT) (TC 1.A.35) family. Miscellaneous transport and binding events PE1 6 +NX_Q9HD26 Golgi-associated PDZ and coiled-coil motif-containing protein 462 50520 5.59 0 Golgi apparatus;Cytoplasm;trans-Golgi network membrane;Postsynaptic density;Synapse;Golgi apparatus membrane;Dendrite NA Plays a role in intracellular protein trafficking and degradation. May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels. May also regulate the intracellular trafficking of the ADR1B receptor. May play a role in autophagy. Overexpression results in CFTR intracellular retention and degradation in the lysosomes. NA NA RHO GTPases regulate CFTR trafficking PE1 6 +NX_Q9HD33 39S ribosomal protein L47, mitochondrial 250 29450 10.38 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uL29 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 3 +NX_Q9HD34 LYR motif-containing protein 4 91 10758 10.73 0 Mitochondrion;Nucleus Combined oxidative phosphorylation deficiency 19 Required for nuclear and mitochondrial iron-sulfur protein biosynthesis. NA Belongs to the complex I LYR family. Cofactor biosynthesis; iron-sulfur cluster biosynthesis.;Mitochondrial iron-sulfur cluster biogenesis PE1 6 +NX_Q9HD36 Bcl-2-like protein 10 204 23204 9.63 1 Mitochondrion;Nucleus membrane NA Promotes cell survival. Suppresses apoptosis induced by BAX but not BAK. NA Belongs to the Bcl-2 family. NA PE1 15 +NX_Q9HD40 O-phosphoseryl-tRNA(Sec) selenium transferase 501 55726 8.31 0 Cytoplasmic vesicle;Cytoplasm Pontocerebellar hypoplasia 2D Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec) required for selenoprotein biosynthesis. NA Belongs to the SepSecS family. Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; selenocysteinyl-tRNA(Sec) from L-seryl-tRNA(Sec) (archaeal/eukaryal route): step 2/2.;Selenocompound metabolism;Aminoacyl-tRNA biosynthesis;Selenocysteine synthesis PE1 4 +NX_Q9HD42 Charged multivesicular body protein 1a 196 21703 7.77 0 Cytoplasm;Nucleus matrix;Endosome membrane Pontocerebellar hypoplasia 8 Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in cytokinesis. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells. May also be involved in chromosome condensation. Targets the Polycomb group (PcG) protein BMI1/PCGF4 to regions of condensed chromatin. May play a role in stable cell cycle progression and in PcG gene silencing. NA Belongs to the SNF7 family. NA PE1 16 +NX_Q9HD43 Receptor-type tyrosine-protein phosphatase H 1115 122353 5.16 1 Cytoplasm;Apical cell membrane;Mitochondrion;Microvillus membrane NA Protein phosphatase that may contribute to contact inhibition of cell growth and motility by mediating the dephosphorylation of focal adhesion-associated substrates and thus negatively regulating integrin-promoted signaling processes. Induces apoptotic cell death by at least two distinct mechanisms: inhibition of cell survival signaling mediated by PI 3-kinase, Akt, and ILK and activation of a caspase-dependent proapoptotic pathway. Inhibits the basal activity of LCK and its activation in response to TCR stimulation and TCR-induced activation of MAP kinase and surface expression of CD69. Inhibits TCR-induced tyrosine phosphorylation of LAT and ZAP70. Inhibits both basal activity of DOK1 and its CD2-induced tyrosine phosphorylation. Induces dephosphorylation of BCAR1, focal adhesion kinase and SRC. Reduces migratory activity of activity of Jurkat cells. Reduces tyrosine phosphorylation of CEACAM20 and thereby contributes to suppress the intestinal immune response CEACAM20 (By similarity). NA Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily. NA PE1 19 +NX_Q9HD45 Transmembrane 9 superfamily member 3 589 67888 6.83 9 Membrane;Golgi apparatus;Cytoplasmic vesicle NA NA NA Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family. NA PE1 10 +NX_Q9HD47 Ran guanine nucleotide release factor 186 20448 4.8 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Perinuclear region;Nucleus NA May regulate the intracellular trafficking of RAN (PubMed:11290418). Promotes guanine nucleotide release from RAN and inhibits binding of new GTP by preventing the binding of the RAN guanine nucleotide exchange factor RCC1 (PubMed:29040603). Regulates the levels of GTP-bound RAN in the nucleus, and thereby plays a role in the regulation of RAN-dependent mitotic spindle dynamics (PubMed:29040603). Enhances the expression of SCN5A at the cell membrane in cardiomyocytes (PubMed:18184654, PubMed:23420830, PubMed:21621375). NA Belongs to the MOG1 family. Phase 0 - rapid depolarisation PE1 17 +NX_Q9HD64 X antigen family member 1 81 9078 9.65 0 Nucleoplasm NA NA NA Belongs to the GAGE family. NA PE1 X +NX_Q9HD67 Unconventional myosin-X 2058 237347 5.85 0 Filopodium tip;Cell cortex;Filopodium membrane;Cell membrane;Nucleolus;Lamellipodium;Ruffle;Cytosol;Cytoskeleton NA Functions as a dominant-negative regulator of isoform 1, suppressing its filopodia-inducing and axon outgrowth-promoting activities. In hippocampal neurons, it increases VASP retention in spine heads to induce spine formation and spine head expansion (By similarity).;Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. MYO10 binds to actin filaments and actin bundles and functions as plus end-directed motor. The tail domain binds to membranous compartments containing phosphatidylinositol 3,4,5-trisphosphate or integrins, and mediates cargo transport along actin filaments. Regulates cell shape, cell spreading and cell adhesion. Stimulates the formation and elongation of filopodia. May play a role in neurite outgrowth and axon guidance. In hippocampal neurons it induces the formation of dendritic filopodia by trafficking the actin-remodeling protein VASP to the tips of filopodia, where it promotes actin elongation. Plays a role in formation of the podosome belt in osteoclasts. The initiator methionine for isoform Headless is removed. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Fc gamma R-mediated phagocytosis;Regulation of actin dynamics for phagocytic cup formation;Netrin-1 signaling PE1 5 +NX_Q9HD87 Putative uncharacterized protein C6orf50 102 12368 8.35 1 Membrane NA NA NA NA NA PE5 6 +NX_Q9HD89 Resistin 108 11419 6.52 0 Secreted NA Hormone that seems to suppress insulin ability to stimulate glucose uptake into adipose cells (By similarity). Potentially links obesity to diabetes (By similarity). Promotes chemotaxis in myeloid cells (PubMed:15064728). NA Belongs to the resistin/FIZZ family. Neutrophil degranulation;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 19 +NX_Q9HD90 Neurogenic differentiation factor 4 331 37041 6.37 0 Nucleus NA Probably acts as a transcriptional activator. Mediates neuronal differentiation. Required for the regulation of amacrine cell fate specification in the retina (By similarity). Serine or threonine phosphorylation within the basic region may regulate neurogenic activity. NA NA PE1 12 +NX_Q9HDB5 Neurexin-3-beta 637 69305 6.75 1 Membrane NA Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May play a role in angiogenesis (By similarity). Proccessed by alpha-secretase leading to the formation of an extracellular soluble protein as well as a C-terminal membrane-embedded fragment (CTF). Proteolysis of these CTFs by gamma-secretase releases intracellular domains (ICDs) and extracellular peptides. Belongs to the neurexin family. Cell adhesion molecules (CAMs);Neurexins and neuroligins PE1 14 +NX_Q9HDB8 Endogenous retrovirus group K member 5 Env polyprotein 245 27904 5.6 0 Virion NA Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. NA Belongs to the beta type-B retroviral envelope protein family. HERV class-II K(HML-2) env subfamily. NA PE2 3 +NX_Q9HDB9 Endogenous retrovirus group K member 5 Gag polyprotein 667 73588 9.26 0 Cell membrane NA The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution. Myristoylation is essential for retroviral assembly. Alteration of the glycine residue leads to a block in the budding of particles and an accumulation of Gag inside the cell (By similarity).;Specific enzymatic cleavages may yield mature proteins. Belongs to the beta type-B retroviral Gag protein family. HERV class-II K(HML-2) gag subfamily. NA PE1 3 +NX_Q9HDC5 Junctophilin-1 661 71686 9.37 1 Nucleoplasm;Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane;Cell membrane NA Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH1 contributes to the construction of the skeletal muscle triad by linking the t-tubule (transverse-tubule) and SR (sarcoplasmic reticulum) membranes. NA Belongs to the junctophilin family. NA PE1 8 +NX_Q9HDC9 Adipocyte plasma membrane-associated protein 416 46480 5.82 1 Membrane;Cell membrane NA Exhibits strong arylesterase activity with beta-naphthyl acetate and phenyl acetate. May play a role in adipocyte differentiation. NA Belongs to the strictosidine synthase family. NA PE1 20 +NX_Q9HDD0 Phospholipase A and acyltransferase 1 168 18750 5.37 1 Cytoplasm;Focal adhesion;Membrane;Cytosol;Nucleus NA Exhibits both phospholipase A1/2 and acyltransferase activities (PubMed:21880860, PubMed:26503625). Shows phospholipase A1 (PLA1) and A2 (PLA2) activity, catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids (PubMed:21880860, PubMed:22825852, PubMed:27623847). Shows O-acyltransferase activity, catalyzing the transfer of a fatty acyl group from glycerophospholipid to the hydroxyl group of lysophospholipid (PubMed:21880860). Shows N-acyltransferase activity, catalyzing the calcium-independent transfer of a fatty acyl group at the sn-1 position of phosphatidylcholine (PC) and other glycerophospholipids to the primary amine of phosphatidylethanolamine (PE), forming N-acylphosphatidylethanolamine (NAPE) which serves as precursor for N-acylethanolamines (NAEs) (PubMed:21880860, PubMed:22825852, PubMed:27623847). NA Belongs to the H-rev107 family. Acyl chain remodelling of PE PE1 3 +NX_Q9N2J8 HERV-H_2q24.1 provirus ancestral Env polyprotein 555 60911 8.88 1 Virion;Cell membrane NA TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).;Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.;SU mediates receptor recognition. Specific enzymatic cleavages in vivo yield the mature SU and TM proteins. Belongs to the gamma type-C retroviral envelope protein family. HERV class-I H env subfamily. NA PE2 2 +NX_Q9N2K0 HERV-H_2q24.3 provirus ancestral Env polyprotein 584 64318 8.61 1 Virion;Cell membrane NA TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).;SU mediates receptor recognition.;Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties but has immunosuppressive properties in vivo. The CXXC motif is highly conserved across a broad range of retroviral envelope proteins. It is thought to participate in the formation of a labile disulfide bond possibly with the CX6CC motif present in the transmembrane protein. Isomerization of the intersubunit disulfide bond to an SU intrachain disulfide bond is thought to occur upon receptor recognition in order to allow membrane fusion (By similarity).;Specific enzymatic cleavages in vivo yield the mature SU and TM proteins. Belongs to the gamma type-C retroviral envelope protein family. HERV class-I H env subfamily. NA PE2 2 +NX_Q9NNW5 WD repeat-containing protein 6 1121 121725 6.41 0 Cytoplasm;Cytosol;Cell membrane NA Enhances the STK11/LKB1-induced cell growth suppression activity. Negative regulator of amino acid starvation-induced autophagy. NA Belongs to the WD repeat WDR6 family. NA PE1 3 +NX_Q9NNW7 Thioredoxin reductase 2, mitochondrial 524 56507 7.24 0 Cytoplasm;Cytosol;Mitochondrion;Nucleus Glucocorticoid deficiency 5 Involved in the control of reactive oxygen species levels and the regulation of mitochondrial redox homeostasis (PubMed:24601690). Maintains thioredoxin in a reduced state. May play a role in redox-regulated cell signaling. NA Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. Pyrimidine metabolism;Selenocompound metabolism;Detoxification of Reactive Oxygen Species PE1 22 +NX_Q9NNX1 Tuftelin 390 44264 5.68 0 Cytoplasm;Secreted;Cytoplasmic vesicle NA Involved in the mineralization and structural organization of enamel. NA Belongs to the tuftelin family. NA PE1 1 +NX_Q9NNX6 CD209 antigen 404 45775 5.43 1 Secreted;Cell membrane NA (Microbial infection) Acts as an attachment receptor for HIV-1 and HIV-2.;(Microbial infection) Acts as an attachment receptor for Influenzavirus A.;On DCs it is a high affinity receptor for ICAM2 and ICAM3 by binding to mannose-like carbohydrates. May act as a DC rolling receptor that mediates transendothelial migration of DC presursors from blood to tissues by binding endothelial ICAM2. Seems to regulate DC-induced T-cell proliferation by binding to ICAM3 on T-cells in the immunological synapse formed between DC and T-cells.;(Microbial infection) Acts as an attachment receptor for Cytomegalovirus.;(Microbial infection) Acts as an attachment receptor for Herpes simplex virus 1.;(Microbial infection) Acts as an attachment receptor for Ebolavirus.;Pathogen-recognition receptor expressed on the surface of immature dendritic cells (DCs) and involved in initiation of primary immune response. Thought to mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. The receptor returns to the cell membrane surface and the pathogen-derived antigens are presented to resting T-cells via MHC class II proteins to initiate the adaptive immune response.;(Microbial infection) Acts as an attachment receptor for Measles virus.;(Microbial infection) Acts as an attachment receptor for HCV.;(Microbial infection) Acts as an attachment receptor for SARS coronavirus.;(Microbial infection) Acts as an attachment receptor for Respiratory syncytial virus.;(Microbial infection) Acts as an attachment receptor for Lassa virus (PubMed:23966408). Acts as an attachment receptor for Marburg virusn.;(Microbial infection) Acts as an attachment receptor for Japanese encephalitis virus.;(Microbial infection) Acts as an attachment receptor for West-nile virus.;(Microbial infection) Acts as an attachment receptor for Rift valley fever virus and uukuniemi virus.;(Microbial infection) Probably recognizes in a calcium-dependent manner high mannose N-linked oligosaccharides in a variety of bacterial pathogen antigens, including Leishmania pifanoi LPG, Lewis-x antigen in Helicobacter pylori LPS, mannose in Klebsiella pneumonae LPS, di-mannose and tri-mannose in Mycobacterium tuberculosis ManLAM and Lewis-x antigen in Schistosoma mansoni SEA (PubMed:16379498). Recognition of M.tuberculosis by dendritic cells occurs partially via this molecule (PubMed:16092920, PubMed:21203928).;(Microbial infection) Acts as an attachment receptor for Dengue virus. NA NA Phagosome;Tuberculosis;Measles;CD209 (DC-SIGN) signaling;Butyrophilin (BTN) family interactions PE1 19 +NX_Q9NNX9 Variable charge X-linked protein 3 186 20020 4.51 0 NA NA May mediate a process in spermatogenesis or may play a role in sex ratio distortion. NA Belongs to the VCX/VCY family. NA PE2 X +NX_Q9NNZ3 DnaJ homolog subfamily C member 4 241 27593 10.56 1 Membrane NA NA NA NA NA PE1 11 +NX_Q9NNZ6 Protamine-3 103 11232 4.56 0 Nucleus;Chromosome NA Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex (By similarity). NA Belongs to the protamine P3 family. NA PE1 16 +NX_Q9NP08 Homeobox protein HMX1 348 36155 6.28 0 Nucleus Oculoauricular syndrome DNA-binding protein that binds to the 5'-CAAG-3' core sequence. May function as a transcriptional repressor. Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as the eye and ear. NA Belongs to the HMX homeobox family. NA PE1 4 +NX_Q9NP31 SH2 domain-containing protein 2A 389 42934 6.96 0 Cytoplasm NA Could be a T-cell-specific adapter protein involved in the control of T-cell activation. May play a role in the CD4-p56-LCK-dependent signal transduction pathway. Could also play an important role in normal and pathological angiogenesis. Could be an adapter protein that facilitates and regulates interaction of KDR with effector proteins important to endothelial cell survival and proliferation. Phosphorylated on tyrosine residues. NA VEGF signaling pathway;VEGFA-VEGFR2 Pathway PE1 1 +NX_Q9NP50 SIN3-HDAC complex-associated factor 221 24852 9.51 0 Nucleoplasm;Cytosol;Nucleus NA Subunit of the Sin3 deacetylase complex (Sin3/HDAC), this subunit is important for the repression of genes encoding components of the TGF-beta signaling pathway (PubMed:22865885, PubMed:22984288). Core component of a SIN3A complex (composed of at least SINHCAF, SIN3A, HDAC1, SAP30, RBBP4, OGT and TET1) present in embryonic stem (ES) cells. Promotes the stability of SIN3A and its presence on chromatin and is essential for maintaining the potential of ES cells to proliferate rapidly, while ensuring a short G1-phase of the cell cycle, thereby preventing premature lineage priming (By similarity). NA Belongs to the SINHCAF family. NA PE1 12 +NX_Q9NP55 BPI fold-containing family A member 1 256 26713 5.42 0 Secreted NA Lipid-binding protein which shows high specificity for the surfactant phospholipid dipalmitoylphosphatidylcholine (DPPC) (PubMed:25223608). Plays a role in the innate immune responses of the upper airways (PubMed:23499554, PubMed:23132494). Reduces the surface tension in secretions from airway epithelia and inhibits the formation of biofilm by pathogenic Gram-negative bacteria, such as P.aeruginosa and K.pneumoniae (PubMed:23499554, PubMed:23132494, PubMed:27145151). Negatively regulates proteolytic cleavage of SCNN1G, an event that is required for activation of the epithelial sodium channel (ENaC), and thereby contributes to airway surface liquid homeostasis and proper clearance of mucus (PubMed:24124190, PubMed:24043776). Plays a role in the airway inflammatory response after exposure to irritants (PubMed:11425234). May attract macrophages and neutrophils (PubMed:23132494). May be N-glycosylated. Belongs to the BPI/LBP/Plunc superfamily. Plunc family. Antimicrobial peptides PE1 20 +NX_Q9NP56 cAMP-specific 3',5'-cyclic phosphodiesterase 7B 450 51835 6.54 0 Nucleoplasm NA Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in the control of cAMP-mediated neural activity and cAMP metabolism in the brain. NA Belongs to the cyclic nucleotide phosphodiesterase family. PDE7 subfamily. Purine metabolism; 3',5'-cyclic AMP degradation; AMP from 3',5'-cyclic AMP: step 1/1.;Purine metabolism;G alpha (s) signalling events PE1 6 +NX_Q9NP58 ATP-binding cassette sub-family B member 6, mitochondrial 842 93886 8.75 10 Mitochondrion outer membrane;Golgi apparatus;Mitochondrion;Endoplasmic reticulum membrane;Cell membrane;Endosome membrane;Nucleoplasm;Golgi apparatus membrane;Cytosol Microphthalmia, isolated, with coloboma, 7;Dyschromatosis universalis hereditaria 3;Pseudohyperkalemia, familial, 2, due to red cell leak Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis. NA Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily. ABC transporters;Mitochondrial ABC transporters;Defective ABCB6 causes isolated colobomatous microphthalmia 7 (MCOPCB7) PE1 2 +NX_Q9NP59 Solute carrier family 40 member 1 571 62542 6.08 10 Nucleoplasm;Cytosol;Cell membrane Hemochromatosis 4 May be involved in iron export from duodenal epithelial cell and also in transfer of iron between maternal and fetal circulation. Mediates iron efflux in the presence of a ferroxidase (hephaestin and/or ceruloplasmin). NA Belongs to the ferroportin (FP) (TC 2.A.100) family. SLC40A subfamily. Mineral absorption;Iron uptake and transport;Metal ion SLC transporters;Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages);Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum);Defective CP causes aceruloplasminemia (ACERULOP) PE1 2 +NX_Q9NP60 X-linked interleukin-1 receptor accessory protein-like 2 686 78670 6.05 1 Membrane NA NA NA Belongs to the interleukin-1 receptor family. Receptor-type tyrosine-protein phosphatases PE2 X +NX_Q9NP61 ADP-ribosylation factor GTPase-activating protein 3 516 56928 7.04 0 Golgi apparatus;Cytoplasm;Cytosol;Golgi apparatus membrane NA GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes. NA NA Endocytosis;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 22 +NX_Q9NP62 Chorion-specific transcription factor GCMa 436 49268 6.57 0 Cytoplasmic vesicle;Nucleus NA Transcription factor involved in the control of expression of placental growth factor (PGF) and other placenta-specific genes (PubMed:10542267, PubMed:18160678). Binds to the trophoblast-specific element 2 (TSE2) of the aromatase gene enhancer (PubMed:10542267). Binds to the SYDE1 promoter (PubMed:27917469). Has a central role in mediating the differentiation of trophoblast cells along both the villous and extravillous pathways in placental development (PubMed:19219068). Polyubiquitinated in the presence of UBE2D2 and FBXW2 (in vitro). NA NA PE1 6 +NX_Q9NP64 Nucleolar protein of 40 kDa 241 27570 9.72 0 Nucleolus NA NA NA NA NA PE1 1 +NX_Q9NP66 High mobility group protein 20A 347 40144 6.08 0 Nucleoplasm;Nucleus NA Plays a role in neuronal differentiation as chromatin-associated protein. Acts as inhibitor of HMG20B. Overcomes the repressive effects of the neuronal silencer REST and induces the activation of neuronal-specific genes. Involved in the recruitment of the histone methyltransferase KMT2A/MLL1 and consequent increased methylation of histone H3 lysine 4 (By similarity). NA NA NA PE1 15 +NX_Q9NP70 Ameloblastin 447 48283 4.79 0 Cytoplasmic vesicle;Nucleoplasm;Extracellular matrix Amelogenesis imperfecta 1F Involved in the mineralization and structural organization of enamel. NA Belongs to the ameloblastin family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 4 +NX_Q9NP71 Carbohydrate-responsive element-binding protein 852 93073 8.7 0 Nucleoplasm;Nucleus NA Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3' (By similarity). Phosphorylation at Ser-556 by AMPK inactivates the DNA-binding activity. NA ChREBP activates metabolic gene expression;AMPK inhibits chREBP transcriptional activation activity;PP2A-mediated dephosphorylation of key metabolic factors;PKA-mediated phosphorylation of key metabolic factors PE1 7 +NX_Q9NP72 Ras-related protein Rab-18 206 22977 5.11 0 Cytoplasm;Nucleus;Cell membrane Warburg micro syndrome 3 Plays a role in apical endocytosis/recycling. May be implicated in transport between the plasma membrane and early endosomes. Plays a key role in eye and brain development and neurodegeneration. NA Belongs to the small GTPase superfamily. Rab family. COPI-independent Golgi-to-ER retrograde traffic;Neutrophil degranulation;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 10 +NX_Q9NP73 Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 1137 126056 6.28 0 Endoplasmic reticulum Epileptic encephalopathy, early infantile, 36 May be involved in protein N-glycosylation, second step of the dolichol-linked oligosaccharide pathway.;Possible multifunctional enzyme with both glycosyltransferase and deubiquitinase activities. NA Belongs to the glycosyltransferase 28 family. N-Glycan biosynthesis;Metabolic pathways;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein;Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS) PE1 X +NX_Q9NP74 Palmdelphin 551 62758 5.31 0 Cytoplasm;Dendritic spine;Cell membrane;Focal adhesion;Dendrite;Cytoskeleton NA NA Phosphorylated. Belongs to the paralemmin family. NA PE1 1 +NX_Q9NP77 RNA polymerase II subunit A C-terminal domain phosphatase SSU72 194 22574 5.16 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Protein phosphatase that catalyzes the dephosphorylation of the C-terminal domain of RNA polymerase II. Plays a role in RNA processing and termination. Plays a role in pre-mRNA polyadenylation via its interaction with SYMPK. NA Belongs to the SSU72 phosphatase family. RNA polymerase II transcribes snRNA genes PE1 1 +NX_Q9NP78 ATP-binding cassette sub-family B member 9 766 84475 8 8 Cytoplasmic vesicle;Lysosome membrane NA ATP-dependent low-affinity peptide transporter which translocates a broad spectrum of peptides from the cytosol to the lysosomal lumen. Displays a broad peptide length specificity from 6-mer up to at least 59-mer peptides with an optimum of 23-mers. Favors positively charged, aromatic or hydrophobic residues in the N- and C-terminal positions whereas negatively charged residues as well as asparagine and methionine are not favored. NA Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily. ABC transporters;Lysosome;ABC-family proteins mediated transport PE1 12 +NX_Q9NP79 Vacuolar protein sorting-associated protein VTA1 homolog 307 33879 5.87 0 Cytoplasm;Endosome membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA Involved in the endosomal multivesicular bodies (MVB) pathway. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. Thought to be a cofactor of VPS4A/B, which catalyzes disassembles membrane-associated ESCRT-III assemblies. Involved in the sorting and down-regulation of EGFR (By similarity). Involved in HIV-1 budding. NA Belongs to the VTA1 family. Endocytosis;Budding and maturation of HIV virion;Endosomal Sorting Complex Required For Transport (ESCRT) PE1 6 +NX_Q9NP80 Calcium-independent phospholipase A2-gamma 782 88477 9.31 1 Golgi apparatus;Endoplasmic reticulum membrane;Nucleoplasm;Golgi apparatus membrane;Cytosol;Perinuclear region;Cytoskeleton Mitochondrial myopathy with lactic acidosis Calcium-independent phospholipase A2, which catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, PtdSer and to a lower extent PtdCho. Cleaves membrane phospholipids. NA NA Acyl chain remodelling of PC;Acyl chain remodelling of PE PE1 7 +NX_Q9NP81 Serine--tRNA ligase, mitochondrial 518 58283 8.35 0 Mitochondrion matrix;Cytoplasmic vesicle;Nucleoplasm;Mitochondrion Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome Catalyzes the attachment of serine to tRNA(Ser). Is also probably able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec). NA Belongs to the class-II aminoacyl-tRNA synthetase family. Type-1 seryl-tRNA synthetase subfamily. Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; L-seryl-tRNA(Sec) from L-serine and tRNA(Sec): step 1/1.;Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation PE1 19 +NX_Q9NP84 Tumor necrosis factor receptor superfamily member 12A 129 13911 9.37 1 Membrane;Cytosol;Cell membrane NA Receptor for TNFSF12/TWEAK. Weak inducer of apoptosis in some cell types. Promotes angiogenesis and the proliferation of endothelial cells. May modulate cellular adhesion to matrix proteins. NA NA Cytokine-cytokine receptor interaction;TNFR2 non-canonical NF-kB pathway;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway PE1 16 +NX_Q9NP85 Podocin 383 42201 8.95 0 Endoplasmic reticulum;Cell membrane Nephrotic syndrome 2 Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton. Is glycosylated. Belongs to the band 7/mec-2 family. Nephrin family interactions PE1 1 +NX_Q9NP86 Calcium-binding protein 5 173 19826 4.45 0 Cytoplasm NA Inhibits calcium-dependent inactivation of L-type calcium channel and shifts voltage dependence of activation to more depolarized membrane potentials (By similarity). Involved in the transmission of light signals (By similarity). May positively regulate neurotransmitter vesicle endocytosis and exocytosis in a salt-dependent manner (By similarity). May play a role in the extension and network organization of neurites (By similarity). NA NA NA PE1 19 +NX_Q9NP87 DNA-directed DNA/RNA polymerase mu 494 54816 8.74 0 Nucleoplasm;Nucleus NA Gap-filling polymerase involved in repair of DNA double-strand breaks by non-homologous end joining (NHEJ). Participates in immunoglobulin (Ig) light chain gene rearrangement in V(D)J recombination. NA Belongs to the DNA polymerase type-X family. Non-homologous end-joining;Nonhomologous End-Joining (NHEJ) PE1 7 +NX_Q9NP90 Ras-related protein Rab-9B 201 22719 4.74 0 Phagosome membrane;Phagosome;Cell membrane NA Involved in the transport of proteins between the endosomes and the trans Golgi network. NA Belongs to the small GTPase superfamily. Rab family. Measles;Retrograde transport at the Trans-Golgi-Network;Neutrophil degranulation;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 X +NX_Q9NP91 Sodium- and chloride-dependent transporter XTRP3 592 65914 6.25 12 Apical cell membrane Iminoglycinuria;Hyperglycinuria Mediates the calcium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N-methylated amino acids. Involved in the transport of glycine. NA Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A20 subfamily. Amino acid transport across the plasma membrane;Na+/Cl- dependent neurotransmitter transporters;Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG);Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG) PE1 3 +NX_Q9NP92 39S ribosomal protein S30, mitochondrial 439 50365 8.21 0 Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mL65 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 5 +NX_Q9NP94 Zinc transporter ZIP2 309 32742 5.85 8 Cytosol;Cell membrane NA Mediates zinc uptake. Zinc uptake may be mediated by a Zn(2+)-HCO(3)(-) symport mechanism and can function in the presence of albumin. May also transport other divalent cations. May be important in contact inhibition of normal epithelial cells and loss of its expression may play a role in tumorigenesis. NA Belongs to the ZIP transporter (TC 2.A.5) family. Zinc influx into cells by the SLC39 gene family PE1 14 +NX_Q9NP95 Fibroblast growth factor 20 211 23499 8.89 0 Secreted Renal hypodysplasia/aplasia 2 Neurotrophic factor that regulates central nervous development and function. NA Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;Signaling by activated point mutants of FGFR1;Signaling by activated point mutants of FGFR3;FGFR4 ligand binding and activation;FGFR3c ligand binding and activation;FGFR1c ligand binding and activation;FGFR2c ligand binding and activation;FGFR3 mutant receptor activation;Activated point mutants of FGFR2;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade: FGFR1;Phospholipase C-mediated cascade, FGFR2;Phospholipase C-mediated cascade, FGFR3;Phospholipase C-mediated cascade, FGFR4;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;PI-3K cascade:FGFR2;SHC-mediated cascade:FGFR2;FRS-mediated FGFR2 signaling;SHC-mediated cascade:FGFR3;FRS-mediated FGFR3 signaling;PI-3K cascade:FGFR3;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;PI-3K cascade:FGFR4;Negative regulation of FGFR1 signaling;Negative regulation of FGFR2 signaling;Negative regulation of FGFR3 signaling;Negative regulation of FGFR4 signaling;Signaling by FGFR2 in disease;Signaling by FGFR1 in disease;FGFR3b ligand binding and activation;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Downstream signaling of activated FGFR1;Signaling by FGFR3 point mutants in cancer PE1 8 +NX_Q9NP97 Dynein light chain roadblock-type 1 96 10922 6.58 0 Cytoplasm;Cytoskeleton NA Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. NA Belongs to the GAMAD family. Intraflagellar transport PE1 20 +NX_Q9NP98 Myozenin-1 299 31745 8.86 0 Pseudopodium;Nucleus NA Myozenins may serve as intracellular binding proteins involved in linking Z-disk proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis. NA Belongs to the myozenin family. NA PE1 10 +NX_Q9NP99 Triggering receptor expressed on myeloid cells 1 234 26387 9 1 Secreted;Cell membrane NA Stimulates neutrophil and monocyte-mediated inflammatory responses. Triggers release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Amplifier of inflammatory responses that are triggered by bacterial and fungal infections and is a crucial mediator of septic shock. Glycosylated. NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Cell surface interactions at the vascular wall;DAP12 interactions PE1 6 +NX_Q9NPA0 ER membrane protein complex subunit 7 242 26471 9.24 1 Membrane;Nucleoplasm NA NA NA Belongs to the EMC7 family. NA PE1 15 +NX_Q9NPA1 Calcium-activated potassium channel subunit beta-3 279 31604 6.88 2 Membrane;Nucleoplasm;Mitochondrion NA Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Alters the functional properties of the current expressed by the KCNMA1 channel.;Partially inactivate the current of KCNBMA.;Induces a fast and incomplete inactivation of KCNMA1 channel that is detectable only at large depolarizations. In contrast, isoform 1 does not induce detectable inactivation of KCNMA1. Two or more subunits of KCNMB3 are required to block the KCNMA1 tetramer. N-glycosylated.;The extracellular domain contains disulfide bond essential for the gating mechanism. Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB3 subfamily. Vascular smooth muscle contraction;Ca2+ activated K+ channels;cGMP effects PE1 3 +NX_Q9NPA2 Matrix metalloproteinase-25 562 62554 8.76 0 Extracellular matrix;Cell membrane NA May activate progelatinase A. The precursor is cleaved by a furin endopeptidase. Belongs to the peptidase M10A family. Activation of Matrix Metalloproteinases;Neutrophil degranulation PE1 16 +NX_Q9NPA3 Mid1-interacting protein 1 183 20202 5.25 0 Cytoplasm;Nucleus;Cytoskeleton NA Plays a role in the regulation of lipogenesis in liver. Up-regulates ACACA enzyme activity. Required for efficient lipid biosynthesis, including triacylglycerol, diacylglycerol and phospholipid. Involved in stabilization of microtubules (By similarity). NA Belongs to the SPOT14 family. Import of palmitoyl-CoA into the mitochondrial matrix PE1 X +NX_Q9NPA8 Transcription and mRNA export factor ENY2 101 11529 9.39 0 Nucleoplasm;Mitochondrion;Nucleus;Nuclear pore complex NA Involved in mRNA export coupled transcription activation by association with both the TREX-2 and the SAGA complexes. The transcription regulatory histone acetylation (HAT) complex SAGA is a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation (PubMed:18206972, PubMed:21746879). As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (PubMed:23591820). NA Belongs to the ENY2 family. HATs acetylate histones PE1 8 +NX_Q9NPB0 SAYSvFN domain-containing protein 1 183 20163 8.95 1 Cytoplasmic vesicle membrane;Cytoplasmic vesicle NA NA NA NA NA PE1 6 +NX_Q9NPB1 5'(3')-deoxyribonucleotidase, mitochondrial 228 25862 8.21 0 Mitochondrion NA Dephosphorylates specifically the 5' and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides, and so protects mitochondrial DNA replication from excess dTTP. Has only marginal activity towards dIMP and dGMP. NA Belongs to the 5'(3')-deoxyribonucleotidase family. Purine metabolism;Pyrimidine metabolism;Nicotinate and nicotinamide metabolism;Metabolic pathways;Pyrimidine catabolism PE1 17 +NX_Q9NPB3 Calcium-binding protein 2 220 24482 4.6 0 Golgi apparatus;Perinuclear region;Cell membrane Deafness, autosomal recessive, 93 Required for sound encoding at inner hair cells (IHCs) synapses, likely via inhibition of the inactivation of voltage-gated calcium channel of type 1.3 (Cav1.3) in the IHCs (PubMed:28183797). Required for the normal transfer of light signals through the retina (By similarity). NA NA NA PE1 11 +NX_Q9NPB6 Partitioning defective 6 homolog alpha 346 37388 9.29 0 Cytoplasm;Cell membrane;Cell junction;Centriolar satellite;Tight junction;Centrosome;Ruffle;Cytosol;Cytoskeleton NA Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in the formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (PubMed:10873802). Regulates centrosome organization and function. Essential for the centrosomal recruitment of key proteins that control centrosomal microtubule organization (PubMed:20719959). Phosphorylated by the TGF-beta receptor. Belongs to the PAR6 family. Endocytosis;Tight junction;Asymmetric localization of PCP proteins;TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition);Tight junction interactions PE1 16 +NX_Q9NPB8 Glycerophosphocholine phosphodiesterase GPCPD1 672 76035 5.34 0 Nucleoplasm;Cytosol NA May be involved in the negative regulation of skeletal muscle differentiation, independently of its glycerophosphocholine phosphodiesterase activity. NA Belongs to the glycerophosphoryl diester phosphodiesterase family. Hydrolysis of LPC;Hydrolysis of LPE PE1 20 +NX_Q9NPB9 Atypical chemokine receptor 4 350 39914 8.8 7 Mitochondrion;Cell membrane;Recycling endosome;Early endosome;Cytoplasmic vesicle NA Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines CCL2, CCL8, CCL13, CCL19, CCL21 and CCL25. Chemokine-binding does not activate G-protein-mediated signal transduction but instead induces beta-arrestin recruitment, leading to ligand internalization. Plays an important role in controlling the migration of immune and cancer cells that express chemokine receptors CCR7 and CCR9, by reducing the availability of CCL19, CCL21, and CCL25 through internalization. Negatively regulates CXCR3-induced chemotaxis. Regulates T-cell development in the thymus. The Ser/Thr residues in the C-terminal cytoplasmic tail may be phosphorylated. Belongs to the G-protein coupled receptor 1 family. Atypical chemokine receptor subfamily. Chemokine receptors bind chemokines PE1 3 +NX_Q9NPC1 Leukotriene B4 receptor 2 358 37942 10.68 7 Nucleoplasm;Cell membrane NA Low-affinity receptor for leukotrienes including leukotriene B4. Mediates chemotaxis of granulocytes and macrophages. The response is mediated via G-proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinities for the leukotrienes is LTB4 > 12-epi-LTB4 > LTB5 > LTB3. NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;G alpha (q) signalling events;Leukotriene receptors PE2 14 +NX_Q9NPC2 Potassium channel subfamily K member 9 374 42264 8.85 4 Cell membrane Birk-Barel mental retardation dysmorphism syndrome PH-dependent, voltage-insensitive, background potassium channel protein. NA Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. TWIK-releated acid-sensitive K+ channel (TASK);Phase 4 - resting membrane potential PE1 8 +NX_Q9NPC3 E3 ubiquitin-protein ligase CCNB1IP1 277 31544 8.59 0 Nucleus;Chromosome NA E3 ubiquitin-protein ligase. Modulates cyclin B levels and participates in the regulation of cell cycle progression through the G2 phase. Overexpression causes delayed entry into mitosis.;Ubiquitin E3 ligase that acts as a limiting factor for crossing-over during meiosis: required during zygonema to limit the colocalization of RNF212 with MutS-gamma-associated recombination sites and thereby establish early differentiation of crossover and non-crossover sites. Later, it is directed by MutL-gamma to stably accumulate at designated crossover sites. Probably promotes the dissociation of RNF212 and MutS-gamma to allow the progression of recombination and the implementation of the final steps of crossing over (By similarity). Modulates cyclin-B levels and participates in the regulation of cell cycle progression through the G2 phase. Overexpression causes delayed entry into mitosis. Ubiquitinated; autoubiquitinated.;Phosphorylated by CDK1 on serine or threonine residues (in vitro). NA Protein modification; protein ubiquitination. PE1 14 +NX_Q9NPC4 Lactosylceramide 4-alpha-galactosyltransferase 353 40499 9.16 1 Mitochondrion;Golgi apparatus membrane NA Catalyzes the transfer of galactose from UDP-alpha-D-galactose to lactosylceramide/beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide(d18:1(4E)) to produce globotriaosylceramide/globoside Gb3Cer (d18:1(4E)) (PubMed:10748143). Also able to transfer galactose to galactosylceramide/beta-D-Gal-(1<->1')-Cer (PubMed:10748143). Globoside Gb3Cer is a glycosphingolipid of the globo serie, one of the major types of neutral root structures of glycosphingolipids, that constitute a significant portion of mammalian cell membranes (Probable). Globotriaosylceramide/globoside Gb3Cer in blood and tissue cell membranes is the antigen Pk of blood histogroup P (PubMed:10747952).;(Microbial infection) Globotriaosylceramide is one of the cellular ligands for bacterial verotoxins. NA Belongs to the glycosyltransferase 32 family. Glycolipid biosynthesis.;Glycosphingolipid biosynthesis - globo series;Metabolic pathways PE1 22 +NX_Q9NPC6 Myozenin-2 264 29898 7.86 0 Nucleoplasm;Cytosol;Z line Cardiomyopathy, familial hypertrophic 16 Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis. NA Belongs to the myozenin family. NA PE1 4 +NX_Q9NPC7 Myoneurin 610 68682 8.56 0 Nucleoplasm;Nucleus NA NA NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 3 +NX_Q9NPC8 Homeobox protein SIX2 291 32286 9.14 0 Nucleoplasm;Nucleus membrane;Nucleus NA Transcription factor that plays an important role in the development of several organs, including kidney, skull and stomach. During kidney development, maintains cap mesenchyme multipotent nephron progenitor cells in an undifferentiated state by opposing the inductive signals emanating from the ureteric bud and cooperates with WNT9B to promote renewing progenitor cells proliferation. Acts through its interaction with TCF7L2 and OSR1 in a canonical Wnt signaling independent manner preventing transcription of differentiation genes in cap mesenchyme such as WNT4. Also acts independently of OSR1 to activate expression of many cap mesenchyme genes, including itself, GDNF and OSR1. During craniofacial development plays a role in growth and elongation of the cranial base through regulation of chondrocyte differentiation. During stomach organogenesis, controls pyloric sphincter formation and mucosal growth through regulation of a gene network including NKX2-5, BMPR1B, BMP4, SOX9 and GREM1. During branchial arch development, acts to mediate HOXA2 control over the insulin-like growth factor pathway. Also may be involved in limb tendon and ligament development (By similarity). Plays a role in cell proliferation and migration. NA Belongs to the SIX/Sine oculis homeobox family. NA PE1 2 +NX_Q9NPD3 Exosome complex component RRP41 245 26383 6.07 0 Cytoplasm;Nucleolus;Cytosol;Nucleus;Cytoskeleton NA Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC4 binds to ARE-containing RNAs. NA Belongs to the RNase PH family. RNA degradation;ATF4 activates genes in response to endoplasmic reticulum stress;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA;KSRP (KHSRP) binds and destabilizes mRNA;mRNA decay by 3' to 5' exoribonuclease;Major pathway of rRNA processing in the nucleolus and cytosol PE1 8 +NX_Q9NPD5 Solute carrier organic anion transporter family member 1B3 702 77403 9.01 12 Basolateral cell membrane;Cell membrane Hyperbilirubinemia, Rotor type Mediates the Na(+)-independent uptake of organic anions such as 17-beta-glucuronosyl estradiol, taurocholate, triiodothyronine (T3), leukotriene C4, dehydroepiandrosterone sulfate (DHEAS), methotrexate and sulfobromophthalein (BSP). Involved in the clearance of bile acids and organic anions from the liver. N-glycosylated. Belongs to the organo anion transporter (TC 2.A.60) family. Bile secretion;Transport of organic anions;Recycling of bile acids and salts;Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR) PE1 12 +NX_Q9NPD7 Neuritin 142 15333 6.54 0 Synapse;Cell membrane NA Promotes neurite outgrowth and especially branching of neuritic processes in primary hippocampal and cortical cells. NA Belongs to the neuritin family. Post-translational modification: synthesis of GPI-anchored proteins PE1 6 +NX_Q9NPD8 Ubiquitin-conjugating enzyme E2 T 197 22521 7.78 0 Nucleoplasm;Nucleolus;Nucleus Fanconi anemia complementation group T Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes monoubiquitination. Involved in mitomycin-C (MMC)-induced DNA repair. Acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway (PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:19589784, PubMed:28437106). Also mediates monoubiquitination of FANCL and FANCI (PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:19589784). May contribute to ubiquitination and degradation of BRCA1 (PubMed:19887602). In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, but may prefer 'Lys-11'-, 'Lys-27'-, 'Lys-48'- and 'Lys-63'-linked polyubiquitination (PubMed:20061386). Auto-ubiquitinated. Effects of auto-monoubiquitination at Lys-91 and Lys-182 are unclear: according to a report, monoubiquitination inactivates E2 enzyme activity (PubMed:16916645). In contrast, according to another report, autoubiquitination does not affect E2 enzyme activity (PubMed:19111657). Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Fanconi anemia pathway;Fanconi Anemia Pathway;Synthesis of active ubiquitin: roles of E1 and E2 enzymes PE1 1 +NX_Q9NPE2 Neugrin 291 32408 9.16 0 Cytoplasm;Mitochondrion;Secreted;Nucleoplasm;Mitochondrion membrane;Nucleus;Cytoskeleton NA Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system. NA Belongs to the neugrin family. NA PE1 15 +NX_Q9NPE3 H/ACA ribonucleoprotein complex subunit 3 64 7706 10.01 0 Cajal body;Nucleus;Nucleolus Dyskeratosis congenita, autosomal recessive, 1 Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme. NA Belongs to the NOP10 family. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol PE1 15 +NX_Q9NPE6 Sperm-associated antigen 4 protein 437 48165 6.65 2 Flagellum axoneme;Membrane;Nucleus inner membrane;Nucleus envelope;Cytoskeleton NA Involved in spermatogenesis. Required for sperm head formation but not required to establish and maintain general polarity of the sperm head. Required for anchoring and organization of the manchette. Required for targeting of SUN3 and probably SYNE1 through a probable SUN1:SYNE3 LINC complex to the nuclear envelope and involved in accurate posterior sperm head localization of the complex. May anchor SUN3 the nuclear envelope. Involved in maintenance of the nuclear envelope integrity. May assist the organization and assembly of outer dense fibers (ODFs), a specific structure of the sperm tail. NA NA NA PE1 20 +NX_Q9NPF0 CD320 antigen 282 28991 4.61 1 Endoplasmic reticulum;Cytosol;Cell membrane Methylmalonic aciduria, transient, due to transcobalamin receptor defect Receptor for transcobalamin saturated with cobalamin (TCbl) (PubMed:18779389). Plays an important role in cobalamin uptake (PubMed:18779389, PubMed:20524213). Plasma membrane protein that is expressed on follicular dendritic cells (FDC) and mediates interaction with germinal center B cells (PubMed:10727470). Functions as costimulator to promote B cell responses to antigenic stimuli; promotes B cell differentiation and proliferation (PubMed:10727470, PubMed:11418631). Germinal center-B (GC-B) cells differentiate into memory B-cells and plasma cells (PC) through interaction with T-cells and follicular dendritic cells (FDC) (PubMed:11418631). CD320 augments the proliferation of PC precursors generated by IL-10 (PubMed:11418631). NA NA Cobalamin (Cbl, vitamin B12) transport and metabolism;Defective CD320 causes methylmalonic aciduria PE1 19 +NX_Q9NPF2 Carbohydrate sulfotransferase 11 352 41555 9.04 1 Golgi apparatus;Golgi apparatus membrane Osteochondrodysplasia, brachydactyly, and overlapping malformed digits Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues in desulfated dermatan sulfate. Preferentially sulfates in GlcA->GalNAc unit than in IdoA->GalNAc unit. Does not form 4, 6-di-O-sulfated GalNAc when chondroitin sulfate C is used as an acceptor. N-glycosylated; required for activity and stability. Belongs to the sulfotransferase 2 family. Glycosaminoglycan biosynthesis - chondroitin sulfate;Sulfur metabolism;Chondroitin sulfate biosynthesis PE1 12 +NX_Q9NPF4 Probable tRNA N6-adenosine threonylcarbamoyltransferase 335 36427 5.94 0 Cytoplasm;Nucleoplasm;Nucleus;Cell membrane Galloway-Mowat syndrome 3 Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. OSGEP likely plays a direct catalytic role in this reaction, but requires other protein(s) of the complex to fulfill this activity. NA Belongs to the KAE1 / TsaD family. tRNA modification in the nucleus and cytosol PE1 14 +NX_Q9NPF5 DNA methyltransferase 1-associated protein 1 467 52993 9.51 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Involved in transcription repression and activation. Its interaction with HDAC2 may provide a mechanism for histone deacetylation in heterochromatin following replication of DNA at late firing origins. Can also repress transcription independently of histone deacetylase activity. May specifically potentiate DAXX-mediated repression of glucocorticoid receptor-dependent transcription. Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Participates in the nuclear localization of URI1 and increases its transcriptional corepressor activity. NA NA HATs acetylate histones PE1 1 +NX_Q9NPF7 Interleukin-23 subunit alpha 189 20730 6.02 0 Cytosol;Secreted NA Associates with IL12B to form the IL-23 interleukin, a heterodimeric cytokine which functions in innate and adaptive immunity. IL-23 may constitute with IL-17 an acute response to infection in peripheral tissues. IL-23 binds to a heterodimeric receptor complex composed of IL12RB1 and IL23R, activates the Jak-Stat signaling cascade, stimulates memory rather than naive T-cells and promotes production of proinflammatory cytokines. IL-23 induces autoimmune inflammation and thus may be responsible for autoimmune inflammatory diseases and may be important for tumorigenesis. NA Belongs to the IL-6 superfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Pertussis;Tuberculosis;Rheumatoid arthritis;Interleukin-4 and Interleukin-13 signaling;Interleukin-23 signaling PE1 12 +NX_Q9NPF8 Arf-GAP with dual PH domain-containing protein 2 381 44349 9.44 0 Cytoplasm;Cell membrane NA GTPase-activating protein for the ADP ribosylation factor family (Potential). Binds phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). Possesses a stoichiometry of two binding sites for InsP4 with identical affinity. NA NA NA PE1 17 +NX_Q9NPG1 Frizzled-3 666 76263 7.94 7 Cell surface;Apical cell membrane;Membrane;Cell membrane NA Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. Activation by Wnt5A stimulates PKC activity via a G-protein-dependent mechanism. Involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Plays a role in controlling early axon growth and guidance processes necessary for the formation of a subset of central and peripheral major fiber tracts. Required for the development of major fiber tracts in the central nervous system, including: the anterior commissure, the corpus callosum, the thalamocortical, corticothalamic and nigrostriatal tracts, the corticospinal tract, the fasciculus retroflexus, the mammillothalamic tract, the medial lemniscus, and ascending fiber tracts from the spinal cord to the brain. In the peripheral nervous system, controls axon growth in distinct populations of cranial and spinal motor neurons, including the facial branchimotor nerve, the hypoglossal nerve, the phrenic nerve, and motor nerves innervating dorsal limbs. Involved in the migration of cranial neural crest cells. May also be implicated in the transmission of sensory information from the trunk and limbs to the brain. Controls commissural sensory axons guidance after midline crossing along the anterior-posterior axis in the developing spinal cord in a Wnt-dependent signaling pathway. Together with FZD6, is involved in the neural tube closure and plays a role in the regulation of the establishment of planar cell polarity (PCP), particularly in the orientation of asymmetric bundles of stereocilia on the apical faces of a subset of auditory and vestibular sensory cells located in the inner ear. Promotes neurogenesis by maintaining sympathetic neuroblasts within the cell cycle in a beta-catenin-dependent manner (By similarity). Ubiquitinated by ZNRF3, leading to its degradation by the proteasome. Belongs to the G-protein coupled receptor Fz/Smo family. Wnt signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;Asymmetric localization of PCP proteins;Class B/2 (Secretin family receptors);PCP/CE pathway;Ca2+ pathway PE1 8 +NX_Q9NPG2 Neuroglobin 151 16933 5.42 0 Cytoplasm;Perikaryon;Mitochondrion NA Involved in oxygen transport in the brain. Hexacoordinate globin, displaying competitive binding of oxygen or the distal His residue to the iron atom. Not capable of penetrating cell membranes. The deoxygenated form exhibits nitrite reductase activity inhibiting cellular respiration via NO-binding to cytochrome c oxidase. Involved in neuroprotection during oxidative stress. May exert its anti-apoptotic activity by acting to reset the trigger level of mitochondrial cytochrome c release necessary to commit the cells to apoptosis. A redox disulfide bond regulates the heme pocket coordination and the rate of nitrite reduction to NO.;Phosphorylated in vitro by ERK1, ERK2 and PKA, and in vivo during hypoxia. Phosphorylation increases nitrite reductase activity. Belongs to the globin family. Intracellular oxygen transport PE1 14 +NX_Q9NPG3 Ubinuclein-1 1134 121520 9.37 0 Nucleus;Nucleoplasm;Tight junction;PML body NA Acts as a novel regulator of senescence. Involved in the formation of senescence-associated heterochromatin foci (SAHF), which represses expression of proliferation-promoting genes. Binds to proliferation-promoting genes. May be required for replication-independent chromatin assembly. NA Belongs to the ubinuclein family. Formation of Senescence-Associated Heterochromatin Foci (SAHF) PE1 16 +NX_Q9NPG4 Protocadherin-12 1184 128995 5.13 1 Cell junction;Secreted;Cell membrane Microcephaly, seizures, spasticity, and brain calcifications Cellular adhesion molecule that may play an important role in cell-cell interactions at interendothelial junctions (By similarity). Acts as a regulator of cell migration, probably via increasing cell-cell adhesion (PubMed:21402705). Promotes homotypic calcium-dependent aggregation and adhesion and clusters at intercellular junctions (By similarity). Unable to bind to catenins, weakly associates with the cytoskeleton (By similarity). Protocadherin-12: Cleaved by ADAM10 close to the transmembrane domain to release the Protocadherin-12, secreted form in the serum. Cleavage results in reduced cellular adhesion in a cell migration assay. NA NA PE1 5 +NX_Q9NPG8 Probable palmitoyltransferase ZDHHC4 344 39787 7.01 5 Endoplasmic reticulum membrane;Nucleus NA NA NA Belongs to the DHHC palmitoyltransferase family. NA PE1 7 +NX_Q9NPH0 Lysophosphatidic acid phosphatase type 6 428 48886 6.04 0 Mitochondrion NA Hydrolyzes lysophosphatidic acid (LPA) containing a medium length fatty acid chain to the corresponding monoacylglycerol. Has highest activity with lysophosphatidic acid containing myristate (C14:0), monounsaturated oleate (C18:1) or palmitate (C16:0), and lower activity with C18:0 and C6:0 lysophosphatidic acid. NA Belongs to the histidine acid phosphatase family. Riboflavin metabolism;Synthesis of PA PE1 1 +NX_Q9NPH2 Inositol-3-phosphate synthase 1 558 61068 5.52 0 Nucleoplasm;Cytosol;Cytoplasm NA Key enzyme in myo-inositol biosynthesis pathway that catalyzes the conversion of glucose 6-phosphate to 1-myo-inositol 1-phosphate in a NAD-dependent manner. Rate-limiting enzyme in the synthesis of all inositol-containing compounds. NA Belongs to the myo-inositol 1-phosphate synthase family. Polyol metabolism; myo-inositol biosynthesis; myo-inositol from D-glucose 6-phosphate: step 1/2.;Inositol phosphate metabolism;Metabolic pathways;Synthesis of IP2, IP, and Ins in the cytosol PE1 19 +NX_Q9NPH3 Interleukin-1 receptor accessory protein 570 65418 8.37 1 Cytoplasmic vesicle;Cytosol;Secreted;Cell membrane NA Unable to mediate canonical IL-1 signaling (PubMed:19481478). Required for Src phosphorylation by IL1B. May be involved in IL1B-potentiated NMDA-induced calcium influx in neurons (By similarity).;Associates with secreted ligand-bound IL1R2 and increases the affinity of secreted IL1R2 for IL1B; this complex formation may be the dominant mechanism for neutralization of IL1B by secreted/soluble receptors (PubMed:12530978). Enhances the ability of secreted IL1R1 to inhibit IL-33 signaling (By similarity).;Coreceptor for IL1RL2 in the IL-36 signaling system (By similarity). Coreceptor with IL1R1 in the IL-1 signaling system. Associates with IL1R1 bound to IL1B to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Recruits TOLLIP to the signaling complex. Does not bind to interleukin-1 alone; binding of IL1RN to IL1R1, prevents its association with IL1R1 to form a signaling complex. The cellular response is modulated through a non-signaling association with the membrane IL1R2 decoy receptor. Coreceptor for IL1RL1 in the IL-33 signaling system. Can bidirectionally induce pre- and postsynaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity). May play a role in IL1B-mediated costimulation of IFNG production from T-helper 1 (Th1) cells (Probable). NA Belongs to the interleukin-1 receptor family. Cytokine-cytokine receptor interaction;Apoptosis;PIP3 activates AKT signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Receptor-type tyrosine-protein phosphatases;Interleukin-33 signaling;Interleukin-36 pathway;Interleukin-1 signaling PE1 3 +NX_Q9NPH5 NADPH oxidase 4 578 66932 8.96 6 Endoplasmic reticulum membrane;Cell membrane;Focal adhesion;Nucleolus;Nucleoplasm;Nucleus NA Display reduced activity.;Is not functional.;Constitutive NADPH oxidase which generates superoxide intracellularly upon formation of a complex with CYBA/p22phox. Regulates signaling cascades probably through phosphatases inhibition. May function as an oxygen sensor regulating the KCNK3/TASK-1 potassium channel and HIF1A activity. May regulate insulin signaling cascade. May play a role in apoptosis, bone resorption and lipolysaccharide-mediated activation of NFKB. May produce superoxide in the nucleus and play a role in regulating gene expression upon cell stimulation.;Involved in redox signaling in vascular cells. Constitutively and NADPH-dependently generates reactive oxygen species (ROS). Modulates the nuclear activation of ERK1/2 and the ELK1 transcription factor, and is capable of inducing nuclear DNA damage. Displays an increased activity relative to isoform 1. Glycosylation is required for its proper function.;Are N-glycosylated. NA Detoxification of Reactive Oxygen Species PE1 11 +NX_Q9NPH6 Odorant-binding protein 2b 170 19457 8.91 0 Secreted NA Probably binds and transports small hydrophobic volatile molecules. NA Belongs to the calycin superfamily. Lipocalin family. NA PE1 9 +NX_Q9NPH9 Interleukin-26 171 19843 10 0 Secreted NA May play a role in local mechanisms of mucosal immunity and seems to have a proinflammatory function. May play a role in inflammatory bowel disease. Activates STAT1 and STAT3, MAPK1/3 (ERK1/2), JUN and AKT. Induces expression of SOCS3, TNF-alpha and IL-8, secretion of IL-8 and IL-10 and surface expression of ICAM1. Decreases proliferation of intestinal epithelial cells. Is inhibited by heparin. NA Belongs to the IL-10 family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-20 family signaling PE1 12 +NX_Q9NPI0 Transmembrane protein 138 162 19262 9.67 4 Vacuole membrane;Cilium;Cytoskeleton Joubert syndrome 16 Required for ciliogenesis. NA Belongs to the TMEM138 family. NA PE1 11 +NX_Q9NPI1 Bromodomain-containing protein 7 651 74139 6 0 Nucleoplasm;Cytosol;Nucleus NA Acts both as coactivator and as corepressor. May play a role in chromatin remodeling. Activator of the Wnt signaling pathway in a DVL1-dependent manner by negatively regulating the GSK3B phosphotransferase activity. Induces dephosphorylation of GSK3B at 'Tyr-216'. Down-regulates TRIM24-mediated activation of transcriptional activation by AR (By similarity). Transcriptional corepressor that down-regulates the expression of target genes. Binds to target promoters, leading to increased histone H3 acetylation at 'Lys-9' (H3K9ac). Binds to the ESR1 promoter. Recruits BRCA1 and POU2F1 to the ESR1 promoter. Coactivator for TP53-mediated activation of transcription of a set of target genes. Required for TP53-mediated cell-cycle arrest in response to oncogene activation. Promotes acetylation of TP53 at 'Lys-382', and thereby promotes efficient recruitment of TP53 to target promoters. Inhibits cell cycle progression from G1 to S phase. NA NA Regulation of TP53 Activity through Acetylation PE1 16 +NX_Q9NPI5 Nicotinamide riboside kinase 2 230 26046 5.77 0 Nucleoplasm;Cytoplasmic vesicle NA Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). Reduces laminin matrix deposition and cell adhesion to laminin, but not to fibronectin. Involved in the regulation of PXN at the protein level and of PXN tyrosine phosphorylation. May play a role in the regulation of terminal myogenesis. NA Belongs to the uridine kinase family. NRK subfamily. Cofactor biosynthesis; NAD(+) biosynthesis.;Nicotinate and nicotinamide metabolism;Nicotinate metabolism PE1 19 +NX_Q9NPI6 mRNA-decapping enzyme 1A 582 63278 5.84 0 Cytosol;P-body;Nucleus NA Necessary for the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. Removes the 7-methyl guanine cap structure from mRNA molecules, yielding a 5'-phosphorylated mRNA fragment and 7m-GDP. Contributes to the transactivation of target genes after stimulation by TGFB1. NA Belongs to the DCP1 family. RNA degradation;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);mRNA decay by 5' to 3' exoribonuclease;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA PE1 3 +NX_Q9NPI7 Lysine-rich coiled-coil protein 1 259 30980 9.35 0 Cytosol;Nucleolus NA NA NA NA NA PE1 2 +NX_Q9NPI8 Fanconi anemia group F protein 374 42254 9.11 0 Nucleoplasm;Nucleus Fanconi anemia complementation group F DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability (By similarity). NA NA Fanconi anemia pathway;Fanconi Anemia Pathway PE1 11 +NX_Q9NPI9 Inward rectifier potassium channel 16 418 47949 7.98 2 Membrane;Basolateral cell membrane;Cytoplasmic vesicle NA Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ16 may be involved in the regulation of fluid and pH balance. In the kidney, together with KCNJ10, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules (PubMed:24561201). NA Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ16 subfamily. Gastric acid secretion;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Potassium transport channels PE1 17 +NX_Q9NPJ1 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin 570 62342 6.67 0 Cytoplasm;Cytosol;Centrosome;Nucleus Bardet-Biedl syndrome 6;McKusick-Kaufman syndrome Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis (PubMed:28753627). NA Belongs to the TCP-1 chaperonin family. BBSome-mediated cargo-targeting to cilium PE1 20 +NX_Q9NPJ3 Acyl-coenzyme A thioesterase 13 140 14960 9.23 0 Mitochondrion;Cell junction;Cytosol;Spindle;Nucleus NA Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates. Can also hydrolyze 3-hydroxyphenylacetyl-CoA and 3,4-dihydroxyphenylacetyl-CoA (in vitro). May play a role in controlling adaptive thermogenesis (By similarity). NA Belongs to the thioesterase PaaI family. Mitochondrial Fatty Acid Beta-Oxidation PE1 6 +NX_Q9NPJ4 Proline-rich nuclear receptor coactivator 2 139 15591 10.4 0 Golgi apparatus;Nucleoplasm;P-body;Nucleus NA Involved in nonsense-mediated mRNA decay (NMD) by acting as a bridge between the mRNA decapping complex and the NMD machinery (PubMed:19150429). May act by targeting the NMD machinery to the P-body and recruiting the decapping machinery to aberrant mRNAs (PubMed:19150429). Required for UPF1/RENT1 localization to the P-body (PubMed:19150429). Plays a role in glucocorticoid receptor-mediated mRNA degradation by interacting with the glucocorticoid receptor NR3C1 in a ligand-dependent manner when it is bound to the 5' UTR of target mRNAs and recruiting the RNA helicase UPF1 and the mRNA-decapping enzyme DCP1A, leading to RNA decay (PubMed:25775514). Also acts as a nuclear receptor coactivator (PubMed:11574675). May play a role in controlling the energy balance between energy storage and energy expenditure (By similarity). NA Belongs to the PNRC family. PNRC2 subfamily. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) PE1 1 +NX_Q9NPJ6 Mediator of RNA polymerase II transcription subunit 4 270 29745 5.02 0 Nucleoplasm;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 4 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 13 +NX_Q9NPJ8 NTF2-related export protein 2 142 16228 5.24 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Regulator of protein export for NES-containing proteins. Also plays a role in mRNA nuclear export. NA NA Ribosome biogenesis in eukaryotes;RNA transport;mRNA surveillance pathway;Influenza A PE1 X +NX_Q9NPL8 Complex I assembly factor TIMMDC1, mitochondrial 285 32178 8.65 4 Mitochondrion membrane;Nucleoplasm;Mitochondrion Mitochondrial complex I deficiency, nuclear type 31 Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I. NA Belongs to the Tim17/Tim22/Tim23 family. Complex I biogenesis PE1 3 +NX_Q9NPP4 NLR family CARD domain-containing protein 4 1024 116159 6.32 0 Cytoplasm;Cytosol Autoinflammation with infantile enterocolitis;Familial cold autoinflammatory syndrome 4 Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytokine production and macrophage pyroptosis (PubMed:15107016). The NLRC4 inflammasome is activated as part of the innate immune response to a range of intracellular bacteria (By similarity). Phosphorylated at Ser-533 following infection of macrophages with S.typhimurium (Salmonella). Phosphorylation is essential for NLRC4 inflammasome function to promote caspase-1 activation and pyroptosis. PRKCD phosphorylates Ser-533 in vitro. NA NOD-like receptor signaling pathway;Salmonella infection;Legionellosis;The IPAF inflammasome;TP53 Regulates Transcription of Caspase Activators and Caspases PE1 2 +NX_Q9NPQ8 Synembryn-A 531 59710 5.2 0 Cytoplasm;Cytosol;Cell membrane NA Guanine nucleotide exchange factor (GEF), which can activate some, but not all, G-alpha proteins. Able to activate GNAI1, GNAO1 and GNAQ, but not GNAS by exchanging bound GDP for free GTP. Involved in regulation of microtubule pulling forces during mitotic movement of chromosomes by stimulating G(i)-alpha protein, possibly leading to release G(i)-alpha-GTP and NuMA proteins from the NuMA-GPSM2-G(i)-alpha-GDP complex (By similarity). Also acts as an activator for G(q)-alpha (GNAQ) protein by enhancing the G(q)-coupled receptor-mediated ERK activation. NA Belongs to the synembryn family. NA PE1 11 +NX_Q9NPR2 Semaphorin-4B 837 92766 6.64 1 Membrane;Nucleoplasm;Cell junction;Cytoplasmic vesicle NA Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. NA Belongs to the semaphorin family. NA PE1 15 +NX_Q9NPR9 Protein GPR108 543 60633 8.88 7 Membrane;Golgi apparatus;Cytoplasmic vesicle NA NA NA Belongs to the LU7TM family. NA PE1 19 +NX_Q9NPU4 Uncharacterized protein C14orf132 83 8830 3.8 1 Membrane NA NA NA NA NA PE2 14 +NX_Q9NPY3 Complement component C1q receptor 652 68560 5.27 1 Membrane;Golgi apparatus;Cytoplasmic vesicle;Cell membrane NA Receptor (or element of a larger receptor complex) for C1q, mannose-binding lectin (MBL2) and pulmonary surfactant protein A (SPA). May mediate the enhancement of phagocytosis in monocytes and macrophages upon interaction with soluble defense collagens. May play a role in intercellular adhesion. N- and O-glycosylated. NA Neutrophil degranulation PE1 20 +NX_Q9NPZ5 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2 323 36919 10.63 1 Golgi apparatus membrane NA Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on both glycolipids and glycoproteins. NA Belongs to the glycosyltransferase 43 family. Protein modification; protein glycosylation.;Glycosaminoglycan biosynthesis - chondroitin sulfate;Glycosaminoglycan biosynthesis - heparan sulfate;Metabolic pathways;A tetrasaccharide linker sequence is required for GAG synthesis PE1 6 +NX_Q9NQ03 Transcriptional repressor scratch 2 307 32584 9.39 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the snail C2H2-type zinc-finger protein family. NA PE2 20 +NX_Q9NQ11 Cation-transporting ATPase 13A2 1180 128794 8.47 12 Membrane;Lysosome membrane;Lysosome Kufor-Rakeb syndrome;Spastic paraplegia 78, autosomal recessive ATPase that plays a role in intracellular cation homeostasis and the maintenance of neuronal integrity (PubMed:22186024). Required for a proper lysosomal and mitochondrial maintenance (PubMed:22296644, PubMed:28137957). Regulates the autophagy-lysosome pathway through the control of SYT11 expression at both transcriptional and post-translational levels (PubMed:27278822). Autophosphorylated. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. Ion transport by P-type ATPases PE1 1 +NX_Q9NQ25 SLAM family member 7 335 37421 6.02 1 Membrane;Endoplasmic reticulum;Cytoplasmic vesicle NA Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2.;Does not mediate any NK cell activation.;Mediates NK cell activation through a SH2D1A-independent extracellular signal-regulated ERK-mediated pathway (PubMed:11698418). Positively regulates NK cell functions by a mechanism dependent on phosphorylated SH2D1B. Downstream signaling implicates PLCG1, PLCG2 and PI3K (PubMed:16339536). In addition to heterotypic NK cells-target cells interactions also homotypic interactions between NK cells may contribute to activation. However, in the absence of SH2D1B, inhibits NK cell function. Acts also inhibitory in T-cells (By similarity). May play a role in lymphocyte adhesion (PubMed:11802771). In LPS-activated monocytes negatively regulates production of proinflammatory cytokines (PubMed:23695528). NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 1 +NX_Q9NQ29 Putative RNA-binding protein Luc7-like 1 371 43728 9.95 0 Nucleoplasm;Mitochondrion NA May bind to RNA via its Arg/Ser-rich domain. NA Belongs to the Luc7 family. NA PE1 16 +NX_Q9NQ30 Endothelial cell-specific molecule 1 184 20095 7.36 0 Secreted NA Involved in angiogenesis; promotes angiogenic sprouting. May have potent implications in lung endothelial cell-leukocyte interactions. May contain intrachain disulfide bonds.;O-glycosylated; contains chondroitin sulfate and dermatan sulfate. NA NA PE1 5 +NX_Q9NQ31 A-kinase-interacting protein 1 210 23114 8.31 0 Nucleoplasm;Nucleus NA Enhances NF-kappa-B transcriptional activity by regulating the nuclear localization of the NF-kappa-B subunit RELA and promoting the phosphorylation of RELA by PRKACA. Regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. NA NA NA PE1 11 +NX_Q9NQ32 Uncharacterized protein C11orf16 467 51609 8.45 0 NA NA NA NA NA NA PE1 11 +NX_Q9NQ33 Achaete-scute homolog 3 180 20797 8.71 0 Nucleus NA Transcriptional repressor. Inhibits myogenesis (By similarity). NA NA NA PE2 11 +NX_Q9NQ34 Transmembrane protein 9B 198 22531 8.35 1 Early endosome membrane;Lysosome membrane NA Enhances production of proinflammatory cytokines induced by TNF, IL1B, and TLR ligands. Has a role in TNF activation of both the NF-kappaB and MAPK pathways. N-glycosylated. Belongs to the TMEM9 family. NA PE1 11 +NX_Q9NQ35 Nuclear receptor-interacting protein 3 241 26975 8.82 0 Cytoplasm;Cytosol NA NA NA NA NA PE1 11 +NX_Q9NQ36 Signal peptide, CUB and EGF-like domain-containing protein 2 999 109957 6.21 0 Cell surface;Secreted NA Lipid-binding protein required for SHH long-range signaling by binding to the dually lipid-modified SHH (ShhNp) and by promoting ShhNp mobilization, solubilization and release from the cell membrane (PubMed:22902404, PubMed:22677548). Acts by enhancing the proteolytic processing (shedding) of the lipid-modified N- and C- terminal of ShhNp at the cell surface (PubMed:24522195). Synergizes with DISP1 to increase SHH secretion (PubMed:22902404). Probable cell surface coreceptor for VEGFR2 involved in VEGFR2-mediated angiogenesis (PubMed:27834687). N-glycosylated. NA Release of Hh-Np from the secreting cell PE1 11 +NX_Q9NQ38 Serine protease inhibitor Kazal-type 5 1064 120714 8.45 0 Cytoplasmic vesicle;Secreted Netherton syndrome Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense-activating and desquamation-involved proteases. Inhibits KLK5, it's major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin. Proteolytically processed by furin in individual domains (D1, D5, D6, D8 through D11, and D9 through D15) exhibiting various inhibitory potentials for multiple proteases. NA Formation of the cornified envelope PE1 5 +NX_Q9NQ39 Putative 40S ribosomal protein S10-like 176 20120 10.13 0 NA NA NA NA Belongs to the eukaryotic ribosomal protein eS10 family. NA PE5 20 +NX_Q9NQ40 Solute carrier family 52, riboflavin transporter, member 3 469 50805 5.46 11 Cytoplasm;Apical cell membrane;Nucleus membrane;Cell membrane Brown-Vialetto-Van Laere syndrome 1;Fazio-Londe disease Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:20463145, PubMed:22273710, PubMed:24264046, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145). NA Belongs to the riboflavin transporter family. Vitamin digestion and absorption;Vitamin B2 (riboflavin) metabolism PE1 20 +NX_Q9NQ48 Leucine zipper transcription factor-like protein 1 299 34592 5.3 0 Cytoplasm;Cytosol Bardet-Biedl syndrome 17 Regulates ciliary localization of the BBSome complex. Together with the BBSome complex, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May play a role in neurite outgrowth. May have tumor suppressor function. NA Belongs to the LZTFL1 family. BBSome-mediated cargo-targeting to cilium PE1 3 +NX_Q9NQ50 39S ribosomal protein L40, mitochondrial 206 24490 9.62 0 Mitochondrion;Nucleolus NA NA NA Belongs to the mitochondrion-specific ribosomal protein mL40 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 22 +NX_Q9NQ55 Suppressor of SWI4 1 homolog 473 53194 10.13 0 Nucleolus NA May have a role in cell growth. NA NA NA PE1 19 +NX_Q9NQ60 Equatorin 294 32840 4.89 1 Acrosome membrane;Acrosome inner membrane;Acrosome outer membrane NA Acrosomal membrane-anchored protein involved in the process of fertilization and in acrosome biogenesis. Highly N- and O-glycosylated; contains sialic acid. NA NA PE1 9 +NX_Q9NQ66 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 1216 138567 5.9 0 Cytoplasm;Nucleus membrane;Cell membrane Epileptic encephalopathy, early infantile, 12 The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. NA NA Inositol phosphate metabolism;Metabolic pathways;Calcium signaling pathway;Chemokine signaling pathway;Phosphatidylinositol signaling system;Vascular smooth muscle contraction;Wnt signaling pathway;Gap junction;Long-term potentiation;Glutamatergic synapse;Cholinergic synapse;Dopaminergic synapse;Long-term depression;GnRH signaling pathway;Melanogenesis;Endocrine and other factor-regulated calcium reabsorption;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Alzheimer's disease;Huntington's disease;Chagas disease (American trypanosomiasis);African trypanosomiasis;Amoebiasis;G alpha (q) signalling events;Ca2+ pathway;G beta:gamma signalling through PLC beta;Presynaptic function of Kainate receptors;Synthesis of IP3 and IP4 in the cytosol;PLC beta mediated events;Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion;Acetylcholine regulates insulin secretion PE1 20 +NX_Q9NQ69 LIM/homeobox protein Lhx9 397 43976 9 0 Nucleoplasm;Nucleus NA Involved in gonadal development. NA NA Regulation of expression of SLITs and ROBOs PE1 1 +NX_Q9NQ75 Cas scaffolding protein family member 4 786 87144 6.66 0 Focal adhesion;Cytoskeleton NA Docking protein that plays a role in tyrosine kinase-based signaling related to cell adhesion and cell spreading. Regulates PTK2/FAK1 activity, focal adhesion integrity, and cell spreading. Phosphorylated on tyrosines by SRC. Belongs to the CAS family. NA PE1 20 +NX_Q9NQ76 Matrix extracellular phosphoglycoprotein 525 58419 8.62 0 Extracellular matrix NA Promotes renal phosphate excretion and inhibits intestinal phosphate absorption (PubMed:14962809, PubMed:19005008). Promotes bone mineralization by osteoblasts and cartilage mineralization by chondrocytes (PubMed:18162525, PubMed:19998030, PubMed:22766095). Regulates the mineralization of the extracellular matrix of the craniofacial complex, such as teeth, bone and cartilage (By similarity). Promotes dental pulp stem cell proliferation and differentiation (PubMed:22341070). Phosphorylated on serine residues in the ASARM motif (in vitro) by FAM20C; the phosphorylation is important for the inhibition of bone mineralization (PubMed:19998030, PubMed:22582013).;Cleaved by CTSB/cathepsin B; the cleavage is blocked by metalloprotease PHEX. Belongs to the PF07175/osteoregulin family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 4 +NX_Q9NQ79 Cartilage acidic protein 1 661 71421 4.95 0 Extracellular matrix NA NA O-glycosylated. NA NA PE1 10 +NX_Q9NQ84 G-protein coupled receptor family C group 5 member C 441 48193 8.72 7 Cell membrane;Centriolar satellite;Nucleoplasm;Cytoplasmic vesicle membrane;Cytosol NA This retinoic acid-inducible G-protein coupled receptor provide evidence for a possible interaction between retinoid and G-protein signaling pathways. NA Belongs to the G-protein coupled receptor 3 family. NA PE1 17 +NX_Q9NQ86 E3 ubiquitin-protein ligase TRIM36 728 83013 5.77 0 Cytoplasm;Acrosome;Nucleoplasm;Cytosol;Cytoskeleton Anencephaly E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Involved in chromosome segregation and cell cycle regulation (PubMed:28087737). May play a role in the acrosome reaction and fertilization. NA Belongs to the TRIM/RBCC family. Antigen processing: Ubiquitination & Proteasome degradation PE1 5 +NX_Q9NQ87 Hairy/enhancer-of-split related with YRPW motif-like protein 328 35087 10.69 0 Cytosol;Mitochondrion;Nucleus NA Downstream effector of Notch signaling which may be required for cardiovascular development (By similarity). Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3' (By similarity). Represses transcription by the cardiac transcriptional activators GATA4 and GATA6. NA Belongs to the HEY family. NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;NOTCH3 Intracellular Domain Regulates Transcription PE1 1 +NX_Q9NQ88 Fructose-2,6-bisphosphatase TIGAR 270 30063 7.6 0 Cytoplasm;Cytosol;Mitochondrion;Nucleus NA Fructose-bisphosphatase hydrolyzing fructose-2,6-bisphosphate as well as fructose-1,6-bisphosphate (PubMed:19015259). Acts as a negative regulator of glycolysis by lowering intracellular levels of fructose-2,6-bisphosphate in a p53/TP53-dependent manner, resulting in the pentose phosphate pathway (PPP) activation and NADPH production (PubMed:16839880, PubMed:22887998). Contributes to the generation of reduced glutathione to cause a decrease in intracellular reactive oxygen species (ROS) content, correlating with its ability to protect cells from oxidative or metabolic stress-induced cell death (PubMed:16839880, PubMed:19713938, PubMed:23726973, PubMed:22887998, PubMed:23817040). Plays a role in promoting protection against cell death during hypoxia by decreasing mitochondria ROS levels in a HK2-dependent manner through a mechanism that is independent of its fructose-bisphosphatase activity (PubMed:23185017). In response to cardiac damage stress, mediates p53-induced inhibition of myocyte mitophagy through ROS levels reduction and the subsequent inactivation of BNIP3. Reduced mitophagy results in an enhanced apoptotic myocyte cell death, and exacerbates cardiac damage (By similarity). Plays a role in adult intestinal regeneration; contributes to the growth, proliferation and survival of intestinal crypts following tissue ablation (PubMed:23726973). Plays a neuroprotective role against ischemic brain damage by enhancing PPP flux and preserving mitochondria functions (By similarity). Protects glioma cells from hypoxia- and ROS-induced cell death by inhibiting glycolysis and activating mitochondrial energy metabolism and oxygen consumption in a TKTL1-dependent and p53/TP53-independent manner (PubMed:22887998). Plays a role in cancer cell survival by promoting DNA repair through activating PPP flux in a CDK5-ATM-dependent signaling pathway during hypoxia and/or genome stress-induced DNA damage responses (PubMed:25928429). Involved in intestinal tumor progression (PubMed:23726973). NA Belongs to the phosphoglycerate mutase family. Fructose and mannose metabolism;TP53 Regulates Metabolic Genes PE1 12 +NX_Q9NQ89 Protein C12orf4 552 63801 5.94 0 Cytoplasm;Nucleus Mental retardation, autosomal recessive 66 Plays a role in mast cell degranulation. NA NA NA PE1 12 +NX_Q9NQ90 Anoctamin-2 1003 113969 6.12 8 Nucleoplasm;Cell membrane NA Calcium-activated chloride channel (CaCC) which may play a role in olfactory signal transduction. Odorant molecules bind to odor-sensing receptors (OSRs), leading to an increase in calcium entry that activates CaCC current which amplifies the depolarization of the OSR cells, ANO2 seems to be the underlying chloride channel involved in this process. May mediate light perception amplification in retina. NA Belongs to the anoctamin family. Stimuli-sensing channels PE1 12 +NX_Q9NQ92 Coordinator of PRMT5 and differentiation stimulator 184 20066 4.06 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA Histone-binding protein required for histone H4 methyltransferase activity of PRMT5. Specifically required for histone H4 'Arg-3' methylation mediated by PRMT5, but not histone H3 'Arg-8' methylation, suggesting that it modulates the substrate specificity of PRMT5. Specifically interacts with the N-terminus of histone H4 but not with histone H3, suggesting that it acts by promoting the association between histone H4 and PRMT5. Involved in CCNE1 promoter repression. Plays a role in muscle cell differentiation by modulating the recruitment of PRMT5 to the promoter of genes involved in the coordination between cell cycle exit and muscle differentiation (By similarity). NA NA RMTs methylate histone arginines PE1 17 +NX_Q9NQ94 APOBEC1 complementation factor 594 65202 8.6 0 Endoplasmic reticulum;Nucleoplasm;Cytoplasm;Nucleus NA Essential component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in APOB mRNA. Binds to APOB mRNA and is probably responsible for docking the catalytic subunit, APOBEC1, to the mRNA to allow it to deaminate its target cytosine. The complex also protects the edited APOB mRNA from nonsense-mediated decay. NA NA mRNA Editing: C to U Conversion;Formation of the Editosome PE1 10 +NX_Q9NQA3 WAS protein family homolog 6 447 47990 5.48 0 Early endosome membrane;Recycling endosome membrane NA May act as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting. NA Belongs to the WASH1 family. NA PE1 X +NX_Q9NQA5 Transient receptor potential cation channel subfamily V member 5 729 82551 6.01 6 Apical cell membrane NA Constitutively active calcium selective cation channel thought to be involved in Ca(2+) reabsorption in kidney and intestine (PubMed:11549322, PubMed:18768590). Required for normal Ca(2+) reabsorption in the kidney distal convoluted tubules (By similarity). The channel is activated by low internal calcium level and the current exhibits an inward rectification (PubMed:11549322, PubMed:18768590). A Ca(2+)-dependent feedback regulation includes fast channel inactivation and slow current decay (By similarity). Heteromeric assembly with TRPV6 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating (By similarity). Glycosylated. Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV5 sub-subfamily. Endocrine and other factor-regulated calcium reabsorption;TRP channels PE1 7 +NX_Q9NQB0 Transcription factor 7-like 2 619 67919 8.73 0 Nucleoplasm;Cytosol;PML body;Nucleus Diabetes mellitus, non-insulin-dependent Participates in the Wnt signaling pathway and modulates MYC expression by binding to its promoter in a sequence-specific manner. Acts as repressor in the absence of CTNNB1, and as activator in its presence. Activates transcription from promoters with several copies of the Tcf motif 5'-CCTTTGATC-3' in the presence of CTNNB1. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7L2/TCF4 and CTNNB1. Expression of dominant-negative mutants results in cell-cycle arrest in G1. Necessary for the maintenance of the epithelial stem-cell compartment of the small intestine. In vitro, phosphorylated by TNIK.;Phosphorylated at Thr-201 and/or Thr-212 by NLK. Phosphorylation by NLK at these sites inhibits DNA-binding by TCF7L2/TCF4, thereby preventing transcriptional activation of target genes of the canonical Wnt/beta-catenin signaling pathway.;Polysumoylated. Sumoylation is enhanced by PIAS family members and desumoylation is enhanced by SENP2. Sumoylation/desumoylation regulates TCF7L2/TCF4 transcription activity in the Wnt/beta-catenin signaling pathway without altering interaction with CTNNB1 nor binding to DNA. Belongs to the TCF/LEF family. Wnt signaling pathway;Adherens junction;Melanogenesis;Pathways in cancer;Colorectal cancer;Endometrial cancer;Prostate cancer;Thyroid cancer;Basal cell carcinoma;Acute myeloid leukemia;Arrhythmogenic right ventricular cardiomyopathy (ARVC);Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);Formation of the beta-catenin:TCF transactivating complex;Ca2+ pathway;Deactivation of the beta-catenin transactivating complex;Binding of TCF/LEF:CTNNB1 to target gene promoters;Repression of WNT target genes;TCF7L2 mutants don't bind CTBP;RUNX3 regulates WNT signaling PE1 10 +NX_Q9NQC1 E3 ubiquitin-protein ligase Jade-2 790 87466 5.15 0 Nucleoplasm NA Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo (PubMed:16387653). Acts as a E3 ubiquitin-protein ligase mediating the ubiquitination and subsequent proteasomal degradation of target protein histone demethylase KDM1A (PubMed:25018020). Also acts as a ubiquitin ligase E3 toward itself. Positive regulator of neurogenesis (By similarity). NA Belongs to the JADE family. Protein modification; protein ubiquitination.;HATs acetylate histones PE1 5 +NX_Q9NQC3 Reticulon-4 1192 129931 4.43 2 Endoplasmic reticulum membrane;Cell membrane;Cell junction;Nucleus membrane;Endoplasmic reticulum NA Mainly function in endothelial cells and vascular smooth muscle cells, is also involved in immune system regulation (Probable). Modulator of vascular remodeling, promotes the migration of endothelial cells but inhibits the migration of vascular smooth muscle cells. Regulates endothelial sphingolipid biosynthesis with direct effects on vascular function and blood pressure. Inhibits serine palmitoyltransferase, SPTLC1, the rate-limiting enzyme of the novo sphingolipid biosynthetic pathway, thereby controlling production of endothelial sphingosine-1-phosphate (S1P). Required to promote macrophage homing and functions such as cytokine/chemokine gene expression involved in angiogenesis, arteriogenesis and tissue repair. Mediates ICAM1 induced transendothelial migration of leukocytes such as monocytes and neutrophils and acute inflammation. Necessary for immune responses triggered by nucleic acid sensing TLRs, such as TLR9, is required for proper TLR9 location to endolysosomes. Also involved in immune response to LPS. Plays a role in liver regeneration through the modulation of hepatocytes proliferation (By similarity). Reduces the anti-apoptotic activity of Bcl-xl and Bcl-2. This is likely consecutive to their change in subcellular location, from the mitochondria to the endoplasmic reticulum, after binding and sequestration (PubMed:11126360). With isoform C, inhibits BACE1 activity and amyloid precursor protein processing (PubMed:16965550).;Required to induce the formation and stabilization of endoplasmic reticulum (ER) tubules (PubMed:27619977, PubMed:25612671, PubMed:24262037). They regulate membrane morphogenesis in the ER by promoting tubular ER production (PubMed:27619977, PubMed:25612671, PubMed:24262037, PubMed:27786289). They influence nuclear envelope expansion, nuclear pore complex formation and proper localization of inner nuclear membrane proteins (PubMed:26906412). However each isoform have specific functions mainly depending on their tissue expression specificities (Probable).;Developmental neurite growth regulatory factor with a role as a negative regulator of axon-axon adhesion and growth, and as a facilitator of neurite branching. Regulates neurite fasciculation, branching and extension in the developing nervous system. Involved in down-regulation of growth, stabilization of wiring and restriction of plasticity in the adult CNS (PubMed:10667797, PubMed:11201742). Regulates the radial migration of cortical neurons via an RTN4R-LINGO1 containing receptor complex (By similarity). Acts as a negative regulator of central nervous system angiogenesis. Inhibits spreading, migration and sprouting of primary brain microvascular endothelial cells (MVECs). Also induces the retraction of MVECs lamellipodia and filopodia in a ROCK pathway-dependent manner (By similarity).;Regulates cardiomyocyte apoptosis upon hypoxic conditions (By similarity). With isoform B, inhibits BACE1 activity and amyloid precursor protein processing (PubMed:16965550). NA NA Axonal growth inhibition (RHOA activation) PE1 2 +NX_Q9NQC7 Ubiquitin carboxyl-terminal hydrolase CYLD 956 107316 5.42 0 Cytoplasm;Cell membrane;Centriolar satellite;Cilium basal body;Nucleoplasm;Centrosome;Spindle;Perinuclear region;Cytoskeleton Multiple familial trichoepithelioma 1;Cylindromatosis, familial;Brooke-Spiegler syndrome Deubiquitinase that specifically cleaves 'Lys-63'- and linear 'Met-1'-linked polyubiquitin chains and is involved in NF-kappa-B activation and TNF-alpha-induced necroptosis (PubMed:18636086, PubMed:26670046, PubMed:27458237, PubMed:26997266, PubMed:27591049, PubMed:29291351, PubMed:18313383). Plays an important role in the regulation of pathways leading to NF-kappa-B activation (PubMed:12917689, PubMed:12917691). Contributes to the regulation of cell survival, proliferation and differentiation via its effects on NF-kappa-B activation (PubMed:12917690). Negative regulator of Wnt signaling (PubMed:20227366). Inhibits HDAC6 and thereby promotes acetylation of alpha-tubulin and stabilization of microtubules (PubMed:19893491). Plays a role in the regulation of microtubule dynamics, and thereby contributes to the regulation of cell proliferation, cell polarization, cell migration, and angiogenesis (PubMed:18222923, PubMed:20194890). Required for normal cell cycle progress and normal cytokinesis (PubMed:17495026, PubMed:19893491). Inhibits nuclear translocation of NF-kappa-B (PubMed:18636086). Plays a role in the regulation of inflammation and the innate immune response, via its effects on NF-kappa-B activation (PubMed:18636086). Dispensable for the maturation of intrathymic natural killer cells, but required for the continued survival of immature natural killer cells (By similarity). Negatively regulates TNFRSF11A signaling and osteoclastogenesis (By similarity). Involved in the regulation of ciliogenesis, allowing ciliary basal bodies to migrate and dock to the plasma membrane; this process does not depend on NF-kappa-B activation (By similarity). Ability to remove linear ('Met-1'-linked) polyubiquitin chains regulates innate immunity and TNF-alpha-induced necroptosis: recruited to the LUBAC complex via interaction with SPATA2 and restricts linear polyubiquitin formation on target proteins (PubMed:26997266, PubMed:26670046, PubMed:27458237, PubMed:27591049). Regulates innate immunity by restricting linear polyubiquitin formation on RIPK2 in response to NOD2 stimulation (PubMed:26997266). Involved in TNF-alpha-induced necroptosis by removing linear ('Met-1'-linked) polyubiquitin chains from RIPK1, thereby regulating the kinase activity of RIPK1 (By similarity). Removes 'Lys-63' linked polyubiquitin chain of MAP3K7, which inhibits phosphorylation and blocks downstream activation of the JNK-p38 kinase cascades (PubMed:29291351). Ubiquitinated. Polyubiquitinated in hepatocytes treated with palmitic acid. Ubiquitination is mediated by E3 ligase TRIM47 and leads to proteasomal degradation.;Phosphorylated on several serine residues by IKKA and/or IKKB in response to immune stimuli. Phosphorylation requires IKBKG. Phosphorylation abolishes TRAF2 deubiquitination, interferes with the activation of Jun kinases, and strongly reduces CD40-dependent gene activation by NF-kappa-B. Belongs to the peptidase C19 family. Osteoclast differentiation;RIG-I-like receptor signaling pathway;NOD1/2 Signaling Pathway;Negative regulators of DDX58/IFIH1 signaling;TNFR1-induced proapoptotic signaling;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;Ub-specific processing proteases PE1 16 +NX_Q9NQC8 Intraflagellar transport protein 46 homolog 304 34286 4.37 0 Cytoplasm;Cilium;Cilium basal body;Cytoskeleton NA Forms part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. May play a role in chondrocyte maturation and skeletogenesis (By similarity). NA Belongs to the IFT46 family. Intraflagellar transport PE1 11 +NX_Q9NQE7 Thymus-specific serine protease 514 55049 8.28 0 Cytoplasmic vesicle NA Protease that may play a role in T-cell development. NA Belongs to the peptidase S28 family. NA PE2 6 +NX_Q9NQE9 Histidine triad nucleotide-binding protein 3 182 20361 6.12 0 Cytoplasm;Mitochondrion;Nucleolus;Cytosol;Nucleus NA Hydrolyzes phosphoramidate and acyl-adenylate substrates. NA Belongs to the HINT family. NA PE1 6 +NX_Q9NQF3 Serine hydrolase-like protein 203 22471 6.64 0 NA NA Putative serine hydrolase. NA Belongs to the AB hydrolase superfamily. NA PE2 22 +NX_Q9NQG1 Protein MANBAL 85 9467 9.21 1 Membrane;Nucleoplasm;Mitochondrion NA NA NA Belongs to the UPF0239 family. NA PE1 20 +NX_Q9NQG5 Regulation of nuclear pre-mRNA domain-containing protein 1B 326 36900 5.73 0 Nucleoplasm;Nucleus NA Interacts with phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and participates in dephosphorylation of the CTD by RPAP2. Transcriptional regulator which enhances expression of CCND1. Promotes binding of RNA polymerase II to the CCDN1 promoter and to the termination region before the poly-A site but decreases its binding after the poly-A site. Prevents RNA polymerase II from reading through the 3' end termination site and may allow it to be recruited back to the promoter through promotion of the formation of a chromatin loop. Also enhances the transcription of a number of other cell cycle-related genes including CDK2, CDK4, CDK6 and cyclin-E but not CDKN1A, CDKN1B or cyclin-A. Promotes cell proliferation. NA Belongs to the UPF0400 (RTT103) family. RNA polymerase II transcribes snRNA genes PE1 20 +NX_Q9NQG6 Mitochondrial dynamics protein MID51 463 51293 7.55 1 Mitochondrion outer membrane;Mitochondrion;Cytoskeleton NA Mitochondrial outer membrane protein which regulates mitochondrial fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity and DNM1L oligomerization. Binds ADP and can also bind GDP, although with lower affinity. Does not bind CDP, UDP, ATP, AMP or GTP. Inhibits DNM1L GTPase activity in the absence of bound ADP. Requires ADP to stimulate DNM1L GTPase activity and the assembly of DNM1L into long, oligomeric tubules with a spiral pattern, as opposed to the ring-like DNM1L oligomers observed in the absence of bound ADP. Does not require ADP for its function in recruiting DNM1L. NA Belongs to the SMCR7 family. NA PE1 22 +NX_Q9NQG7 Hermansky-Pudlak syndrome 4 protein 708 76919 5.26 0 Centrosome Hermansky-Pudlak syndrome 4 Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991). NA NA RAB GEFs exchange GTP for GDP on RABs PE1 22 +NX_Q9NQH7 Xaa-Pro aminopeptidase 3 507 57034 6.37 0 Cytoplasm;Mitochondrion Nephronophthisis-like nephropathy 1 Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Leu-Pro-Ala (PubMed:25609706, PubMed:28476889). Also shows low activity towards peptides with Ala or Ser at the P1 position (PubMed:28476889).;Promotes TNFRSF1B-mediated phosphorylation of MAPK8/JNK1 and MAPK9/JNK2, suggesting a function as an adapter protein for TNFRSF1B; the effect is independent of XPNPEP3 peptidase activity. May inhibit apoptotic cell death induced via TNF-TNFRSF1B signaling. NA Belongs to the peptidase M24B family. NA PE1 22 +NX_Q9NQI0 Probable ATP-dependent RNA helicase DDX4 724 79308 5.62 0 Cytoplasm;Perinuclear region NA ATP-dependent RNA helicase required during spermatogenesis (PubMed:10920202, PubMed:21034600). Required to repress transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons (By similarity). Involved in the secondary piRNAs metabolic process, the production of piRNAs in fetal male germ cells through a ping-pong amplification cycle (By similarity). Required for PIWIL2 slicing-triggered piRNA biogenesis: helicase activity enables utilization of one of the slice cleavage fragments generated by PIWIL2 and processing these pre-piRNAs into piRNAs (By similarity). NA Belongs to the DEAD box helicase family. DDX4/VASA subfamily. PIWI-interacting RNA (piRNA) biogenesis PE1 5 +NX_Q9NQL2 Ras-related GTP-binding protein D 400 45588 4.76 0 Cytoplasm;Nucleoplasm;Centrosome;Lysosome;Nucleus NA Guanine nucleotide-binding protein forming heterodimeric Rag complexes required for the amino acid-induced relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. This is a crucial step in the activation of the TOR signaling cascade by amino acids. NA Belongs to the GTR/RAG GTP-binding protein family. Macroautophagy;TP53 Regulates Metabolic Genes;Energy dependent regulation of mTOR by LKB1-AMPK;mTOR signalling;mTORC1-mediated signalling;Regulation of PTEN gene transcription PE1 6 +NX_Q9NQL9 Doublesex- and mab-3-related transcription factor 3 472 51199 7 0 Nucleus NA Probable transcription factor that plays a role in configuring the spinal circuits controlling stride in vertebrates. Involved in neuronal specification within specific subdivision of spinal cord neurons and in the development of a coordinated locomotor network controlling limb movements. May regulate transcription during sexual development (By similarity). NA Belongs to the DMRT family. NA PE1 9 +NX_Q9NQM4 Protein PIH1D3 214 24069 3.99 0 Cytoplasm Ciliary dyskinesia, primary, 36, X-linked Plays a role in cytoplasmic pre-assembly of axonemal dynein. NA Belongs to the PIH1 family. NA PE1 X +NX_Q9NQN1 Olfactory receptor 2S2 319 35172 8.37 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 9 +NX_Q9NQP4 Prefoldin subunit 4 134 15314 4.42 0 Cytoplasm;Mitochondrion;Nucleus NA Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins. NA Belongs to the prefoldin subunit beta family. Prefoldin mediated transfer of substrate to CCT/TriC PE1 20 +NX_Q9NQQ7 Solute carrier family 35 member C2 365 40432 8.31 8 Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment membrane;cis-Golgi network membrane;Membrane;Nucleoplasm NA May play an important role in the cellular response to tissue hypoxia. May be either a GDP-fucose transporter that competes with SLC35C1 for GDP-fucose, or a factor that otherwise enhances the fucosylation of Notch and is required for optimal Notch signaling in mammalian cells. NA Belongs to the TPT transporter family. SLC35C subfamily. NA PE1 20 +NX_Q9NQR1 N-lysine methyltransferase KMT5A 393 42890 9.69 0 Nucleoplasm;Cytosol;Nucleus;Chromosome NA Protein-lysine N-methyltransferase that monomethylates both histones and non-histone proteins. Specifically monomethylates 'Lys-20' of histone H4 (H4K20me1). H4K20me1 is enriched during mitosis and represents a specific tag for epigenetic transcriptional repression. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. Required for cell proliferation, probably by contributing to the maintenance of proper higher-order structure of DNA during mitosis. Involved in chromosome condensation and proper cytokinesis. Nucleosomes are preferred as substrate compared to free histones. Mediates monomethylation of p53/TP53 at 'Lys-382', leading to repress p53/TP53-target genes. Plays a negative role in TGF-beta response regulation and a positive role in cell migration. Ubiquitinated and degraded by the DCX(DTL) complex.;Acetylated at Lys-172; does not change methyltransferase activity. Deacetylated at Lys-172 by SIRT2; does not change methyltransferase activity. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. PR/SET subfamily. Lysine degradation;PKMTs methylate histone lysines;Condensation of Prophase Chromosomes;Regulation of TP53 Activity through Methylation PE1 12 +NX_Q9NQR4 Omega-amidase NIT2 276 30608 6.83 0 Cytoplasm;Cytosol;Centrosome NA Has a omega-amidase activity. The role of omega-amidase is to remove potentially toxic intermediates by converting alpha-ketoglutaramate and alpha-ketosuccinamate to biologically useful alpha-ketoglutarate and oxaloacetate, respectively. Overexpression decreases the colony-forming capacity of cultured cells by arresting cells in the G2 phase of the cell cycle. NA Belongs to the carbon-nitrogen hydrolase superfamily. NIT1/NIT2 family. Alanine, aspartate and glutamate metabolism;Neutrophil degranulation PE1 3 +NX_Q9NQR7 Coiled-coil domain-containing protein 177 707 79739 10.74 0 NA NA NA NA NA NA PE1 14 +NX_Q9NQR9 Glucose-6-phosphatase 2 355 40580 8.64 9 Endoplasmic reticulum membrane NA May hydrolyze glucose-6-phosphate to glucose in the endoplasmic reticulum. May be responsible for glucose production through glycogenolysis and gluconeogenesis (By similarity). N-glycosylated; the non-glycosylated form is more unstable and is degraded through the proteasome. Belongs to the glucose-6-phosphatase family. Carbohydrate biosynthesis; gluconeogenesis.;Glycolysis / Gluconeogenesis;Galactose metabolism;Starch and sucrose metabolism;Metabolic pathways;Insulin signaling pathway;Adipocytokine signaling pathway;Carbohydrate digestion and absorption;Gluconeogenesis PE1 2 +NX_Q9NQS1 Cell death regulator Aven 362 38506 4.9 0 Endomembrane system;Centrosome;Cell membrane;Cytoskeleton NA Protects against apoptosis mediated by Apaf-1. NA NA Formation of apoptosome;Regulation of the apoptosome activity PE1 15 +NX_Q9NQS3 Nectin-3 549 61002 5.79 1 Centriolar satellite;Cell membrane;Postsynaptic cell membrane NA Plays a role in cell-cell adhesion through heterophilic trans-interactions with nectin-like proteins or nectins, such as trans-interaction with NECTIN2 at Sertoli-spermatid junctions. Trans-interaction with PVR induces activation of CDC42 and RAC small G proteins through common signaling molecules such as SRC and RAP1. Also involved in the formation of cell-cell junctions, including adherens junctions and synapses. Induces endocytosis-mediated down-regulation of PVR from the cell surface, resulting in reduction of cell movement and proliferation. Plays a role in the morphology of the ciliary body. NA Belongs to the nectin family. Cell adhesion molecules (CAMs);Adherens junction;Adherens junctions interactions;Nectin/Necl trans heterodimerization PE1 3 +NX_Q9NQS5 G-protein coupled receptor 84 396 43705 9.63 7 Cell membrane NA Receptor for medium-chain free fatty acid (FFA) with carbon chain lengths of C9 to C14. Capric acid (C10:0), undecanoic acid (C11:0) and lauric acid (C12:0) are the most potent agonists. Not activated by short-chain and long-chain saturated and unsaturated FFAs. Activation by medium-chain free fatty acid is coupled to a pertussis toxin sensitive G(i/o) protein pathway. May have important roles in processes from fatty acid metabolism to regulation of the immune system. NA Belongs to the G-protein coupled receptor 1 family. G alpha (s) signalling events;Neutrophil degranulation PE1 12 +NX_Q9NQS7 Inner centromere protein 918 105429 9.46 0 Kinetochore;Nucleoplasm;Centromere;Nucleus;Spindle;Midbody NA Component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Acts as a scaffold regulating CPC localization and activity. The C-terminus associates with AURKB or AURKC, the N-terminus associated with BIRC5/survivin and CDCA8/borealin tethers the CPC to the inner centromere, and the microtubule binding activity within the central SAH domain directs AURKB/C toward substrates near microtubules (PubMed:15316025, PubMed:12925766, PubMed:27332895). The flexibility of the SAH domain is proposed to allow AURKB/C to follow substrates on dynamic microtubules while ensuring CPC docking to static chromatin (By similarity). Activates AURKB and AURKC (PubMed:27332895). Required for localization of CBX5 to mitotic centromeres (PubMed:21346195). Controls the kinetochore localization of BUB1 (PubMed:16760428). Phosphorylation by AURKB or AURKC at its C-terminal part is important for AURKB or AURKC activation by INCENP.;INCENP is phosphorylated by AURKB (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the INCENP family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;SUMOylation of DNA replication proteins PE1 11 +NX_Q9NQT4 Exosome complex component RRP46 235 25249 7.54 0 Nucleoplasm;Nucleolus;Cytoplasm;Nucleus NA Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. NA Belongs to the RNase PH family. RNA degradation;ATF4 activates genes in response to endoplasmic reticulum stress;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA;KSRP (KHSRP) binds and destabilizes mRNA;mRNA decay by 3' to 5' exoribonuclease;Major pathway of rRNA processing in the nucleolus and cytosol PE1 19 +NX_Q9NQT5 Exosome complex component RRP40 275 29572 8.39 0 Nucleoplasm;Cytoplasm;Nucleus;Nucleolus Pontocerebellar hypoplasia 1B Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC3 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC9 and EXOSC5. NA Belongs to the RRP40 family. RNA degradation;ATF4 activates genes in response to endoplasmic reticulum stress;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA;KSRP (KHSRP) binds and destabilizes mRNA;mRNA decay by 3' to 5' exoribonuclease;Major pathway of rRNA processing in the nucleolus and cytosol PE1 9 +NX_Q9NQT6 Fascin-3 498 56624 7.83 0 Cytoskeleton NA Acts as an actin bundling protein. NA Belongs to the fascin family. NA PE1 7 +NX_Q9NQT8 Kinesin-like protein KIF13B 1826 202789 5.64 0 Axon;Cytoskeleton NA Involved in reorganization of the cortical cytoskeleton. Regulates axon formation by promoting the formation of extra axons. May be functionally important for the intracellular trafficking of MAGUKs and associated protein complexes. Phosphorylated at Ser-1381 and Ser-1410 by MARK2, promoting interaction with 14-3-3 and inhibiting microtubule-dependent accumulation and formation of axons. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 8 +NX_Q9NQU5 Serine/threonine-protein kinase PAK 6 681 74869 9.57 0 Cytoplasm;Cell junction;Nucleolus;Nucleoplasm;Nucleus NA Serine/threonine protein kinase that plays a role in the regulation of gene transcription. The kinase activity is induced by various effectors including AR or MAP2K6/MAPKK6. Phosphorylates the DNA-binding domain of androgen receptor/AR and thereby inhibits AR-mediated transcription. Inhibits also ESR1-mediated transcription. May play a role in cytoskeleton regulation by interacting with IQGAP1. May protect cells from apoptosis through phosphorylation of BAD. Autophosphorylated. Phosphorylated by MAP2K6//MAPKK6, leading to PAK6 activation.;PAK6 is phosphorylated by MAP2K6 (Phosphotyrosine:PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. ErbB signaling pathway;Axon guidance;Focal adhesion;T cell receptor signaling pathway;Regulation of actin cytoskeleton;Renal cell carcinoma;Activation of RAC1 PE1 15 +NX_Q9NQV5 PR domain-containing protein 11 511 57863 5.85 0 Cytoplasm;Nucleus NA May be involved in transcription regulation. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. NA PE1 11 +NX_Q9NQV6 PR domain zinc finger protein 10 1147 130136 6.27 0 Nucleoplasm;Nucleolus;Nucleus;Cytoplasmic vesicle NA May be involved in transcriptional regulation. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. NA PE1 11 +NX_Q9NQV7 Histone-lysine N-methyltransferase PRDM9 894 103376 9.36 0 Nucleus;Chromosome NA Histone methyltransferase that methylates both dimethylated 'Lys-4' (H3K4me2) and dimethylated 'Lys-36' (H3K36me2) of histone H3 to produce respectively trimethylated 'Lys-4' (H3K4me3) and trimethylated 'Lys-36' (H3K36me3) histone H3 and plays a key role in meiotic prophase by determining hotspot localization thereby promoting meiotic recombination (PubMed:24634223, PubMed:24095733, PubMed:26833727). During meiotic prophase, binds specific DNA sequences through its zinc finger domains thereby determining hotspot localization where it promotes local H3K4me3 and H3K36me3 enrichment on the same nucleosomes through its histone methyltransferase activity (PubMed:26833727). Thereby promotes double-stranded breaks (DSB) formation, at this subset of PRDM9-binding sites, that initiates meiotic recombination for the proper meiotic progression (By similarity). During meiotic progression hotspot-bound PRDM9 interacts with several complexes; in early leptonema binds CDYL and EHMT2 followed by EWSR1 and CXXC1 by the end of leptonema. EWSR1 joins PRDM9 with the chromosomal axis through REC8 (By similarity). In this way, controls the DSB repair pathway, pairing of homologous chromosomes and sex body formation (By similarity). Moreover plays a central role in the transcriptional activation of genes during early meiotic prophase thanks to H3K4me3 and H3K36me3 enrichment that represents a specific tag for epigenetic transcriptional activation (By similarity). In vitro sequentially mono-, di-, and trimethylates H3K4 and H3K36, but trimethylation of H3K36 is less efficiently than H3K4; also can methylate unmodified 'Lys-4' of histone H3 and all four core histones with H3 being the best substrate and the most highly modified (PubMed:24634223, PubMed:24095733, PubMed:26833727). Also able to trimethylate H3K9 and has highest substrate specificity towards di-methylated H3K9 (By similarity). In addition performs automethylation (By similarity). Acetylation and phosphorylation of histone H3 attenuate or prevent histone H3 methylation (By similarity). Mono-methylated; automethylated. Tri-methylated; automethylated. Mono-methylation is predominant; automethylation is lower and slower than H3 peptide methylation and is in a highest S-adenosyl-L-methionine concentration-dependent. There are two major sites for automethylation at Lys-368 and Lys-374. Lysines can be simultaneously methylated, such as Lys-368(me3)/Lys-372(me1), Lys-368(me1)/Lys-374(me1) and Lys-368(me1)/Lys-372(me1)/Lys-374(me1). Automethylation is an intramolecular (cis) process. Belongs to the class V-like SAM-binding methyltransferase superfamily. PKMTs methylate histone lysines;Meiotic recombination PE1 5 +NX_Q9NQV8 PR domain zinc finger protein 8 689 71663 8.05 0 Nucleus Epilepsy, progressive myoclonic 10 Probable histone methyltransferase, preferentially acting on 'Lys-9' of histone H3 (By similarity). Involved in the control of steroidogenesis through transcriptional repression of steroidogenesis marker genes such as CYP17A1 and LHCGR (By similarity). Forms with BHLHE22 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation (By similarity). In the retina, it is required for rod bipolar and type 2 OFF-cone bipolar cell survival (By similarity). NA Belongs to the class V-like SAM-binding methyltransferase superfamily. NA PE1 4 +NX_Q9NQW1 Protein transport protein Sec31B 1179 128697 8.62 0 Cytoplasm;Endoplasmic reticulum membrane;Nucleoplasm;COPII-coated vesicle membrane;Cytoplasmic vesicle;Cytosol NA As a component of the coat protein complex II (COPII), may function in vesicle budding and cargo export from the endoplasmic reticulum. Monoubiquitinated by the BCR(KLHL12) E3 ubiquitin ligase complex, leading to regulate the size of COPII coats. Belongs to the WD repeat SEC31 family. Protein processing in endoplasmic reticulum PE1 10 +NX_Q9NQW5 Probable histone-lysine N-methyltransferase PRDM7 492 55777 7.99 0 Nucleus speckle;Nucleus;Chromosome NA Probable histone methyltransferase. NA NA Generic Transcription Pathway PE1 16 +NX_Q9NQW6 Anillin 1124 124199 8.38 0 Cell cortex;Bleb;Nucleoplasm;Nucleus;Midbody;Cytoskeleton Focal segmental glomerulosclerosis 8 Required for cytokinesis (PubMed:16040610). Essential for the structural integrity of the cleavage furrow and for completion of cleavage furrow ingression. Plays a role in bleb assembly during metaphase and anaphase of mitosis (PubMed:23870127). May play a significant role in podocyte cell migration (PubMed:24676636). Ubiquitinated, and this requires FZR1/CDH1.;Phosphorylated during mitosis. NA NA PE1 7 +NX_Q9NQW7 Xaa-Pro aminopeptidase 1 623 69918 5.42 0 Cytoplasm;Cytosol NA Contributes to the degradation of bradykinin. Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Arg-Pro-Pro. NA Belongs to the peptidase M24B family. NA PE1 10 +NX_Q9NQW8 Cyclic nucleotide-gated cation channel beta-3 809 92167 8.06 6 Membrane Achromatopsia 3;Stargardt disease 1 Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency of the channel when coexpressed with CNGA3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones. NA Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB3 subfamily. NA PE1 8 +NX_Q9NQX0 Putative histone-lysine N-methyltransferase PRDM6 595 64452 7.93 0 Nucleoplasm;Nucleus Patent ductus arteriosus 3 Putative histone methyltransferase that acts as a transcriptional repressor of smooth muscle gene expression. Promotes the transition from differentiated to proliferative smooth muscle by suppressing differentiation and maintaining the proliferative potential of vascular smooth muscle cells. Also plays a role in endothelial cells by inhibiting endothelial cell proliferation, survival and differentiation. It is unclear whether it has histone methyltransferase activity in vivo. According to some authors, it does not act as a histone methyltransferase by itself and represses transcription by recruiting EHMT2/G9a. According to others, it possesses histone methyltransferase activity when associated with other proteins and specifically methylates 'Lys-20' of histone H4 in vitro. 'Lys-20' methylation represents a specific tag for epigenetic transcriptional repression. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. NA PE1 5 +NX_Q9NQX1 PR domain zinc finger protein 5 630 73090 9.08 0 Nucleoplasm;Nucleus;Nucleolus Brittle cornea syndrome 2 Sequence-specific DNA-binding transcription factor. Represses transcription at least in part by recruitment of the histone methyltransferase EHMT2/G9A and histone deacetylases such as HDAC1. Regulates hematopoiesis-associated protein-coding and microRNA (miRNA) genes. May regulate the expression of proteins involved in extracellular matrix development and maintenance, including fibrillar collagens, such as COL4A1 and COL11A1, connective tissue components, such as HAPLN1, and molecules regulating cell migration and adhesion, including EDIL3 and TGFB2. May cause G2/M arrest and apoptosis in cancer cells. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. NA PE1 4 +NX_Q9NQX3 Gephyrin 736 79748 5.25 0 Cell membrane;Postsynaptic cell membrane;Postsynaptic density;Synapse;Cytosol;Dendrite;Cytoskeleton Molybdenum cofactor deficiency, complementation group C Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released. NA In the N-terminal section; belongs to the MoaB/Mog family.;In the C-terminal section; belongs to the MoeA family. Cofactor biosynthesis; molybdopterin biosynthesis.;GABAergic synapse;Molybdenum cofactor biosynthesis PE1 14 +NX_Q9NQX4 Unconventional myosin-Vc 1742 202810 7.69 0 Nucleoplasm;Cytosol NA May be involved in transferrin trafficking. Likely to power actin-based membrane trafficking in many physiologically crucial tissues. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. NA PE1 15 +NX_Q9NQX5 Neural proliferation differentiation and control protein 1 325 34516 6.55 1 Membrane;Nucleoplasm;Cytosol NA Suppresses oncogenic transformation in neural and non-neural cells and down-regulates neural cell proliferation. Might be involved in transcriptional regulation (By similarity). NA Belongs to the NPDC1/cab-1 family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 9 +NX_Q9NQX6 Zinc finger protein 331 463 53739 9.16 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. May play a role in spermatogenesis. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9NQX7 Integral membrane protein 2C 267 30224 8.16 1 Golgi apparatus;Lysosome membrane;Cell membrane NA Negative regulator of amyloid-beta peptide production. May inhibit the processing of APP by blocking its access to alpha- and beta-secretase. Binding to the beta-secretase-cleaved APP C-terminal fragment is negligible, suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor. May play a role in TNF-induced cell death and neuronal differentiation (By similarity). Type I membrane-bound, as well as soluble, furin has a pre-eminent role in ITM2C proteolytic processing. PCSK7 and PCSK5 may also be involved although to a lesser extent. The soluble form of PCSK7 is incapable of processing ITM2C. Fails to undergo shedding by ADAM10 and intramembanaire cleavage by SPPL2B. Belongs to the ITM2 family. NA PE1 2 +NX_Q9NQY0 Bridging integrator 3 253 29665 6.94 0 Cytoskeleton NA Involved in cytokinesis and septation where it has a role in the localization of F-actin. NA NA NA PE1 8 +NX_Q9NQZ2 Something about silencing protein 10 479 54558 5.5 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA Essential for gene silencing: has a role in the structure of silenced chromatin. Plays a role in the developing brain (By similarity). Citrullinated by PADI4. Belongs to the SAS10 family. rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 4 +NX_Q9NQZ3 Deleted in azoospermia protein 1 744 82764 9.36 0 Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation. Promotes germ-cell progression to meiosis and formation of haploid germ cells. NA Belongs to the RRM DAZ family. NA PE1 Y +NX_Q9NQZ5 StAR-related lipid transfer protein 7, mitochondrial 370 43113 9.03 0 Mitochondrion NA May play a protective role in mucosal tissues by preventing exaggerated allergic responses. NA NA Synthesis of PC PE1 2 +NX_Q9NQZ6 Zinc finger C4H2 domain-containing protein 224 26244 6.68 0 Cytoplasm;Postsynaptic cell membrane;Cytoplasmic vesicle;Nucleus;Cytoskeleton Wieacker-Wolf syndrome Plays a role in interneurons differentiation (PubMed:26056227). Involved in neuronal development and in neuromuscular junction formation. NA NA NA PE1 X +NX_Q9NQZ7 Ectonucleoside triphosphate diphosphohydrolase 7 604 68960 7.29 2 Cytoplasmic vesicle membrane;Nucleoplasm NA Preferentially hydrolyzes nucleoside 5'-triphosphates. The order of activity with respect to possible substrates is UTP > GTP > CTP. NA Belongs to the GDA1/CD39 NTPase family. Phosphate bond hydrolysis by NTPDase proteins PE1 10 +NX_Q9NQZ8 Endothelial zinc finger protein induced by tumor necrosis factor alpha 489 54498 9 0 Nucleoplasm;Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9NR00 Transcriptional and immune response regulator 106 12337 10.14 0 Cytoplasm;Nucleus speckle;Cell membrane;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Seems to be involved in the regulation of cell growth an differentiation, may play different and opposite roles depending on the tissue or cell type. May enhance the WNT-CTNNB1 pathway by relieving antagonistic activity of CBY1 (PubMed:16424001, PubMed:16730711). Enhances the proliferation of follicular dendritic cells (PubMed:16730711). Plays a role in the mitogen-activated MAPK2/3 signaling pathway, positively regulates G1-to-S-phase transition of the cell cycle (PubMed:18959821). In endothelial cells, enhances key inflammatory mediators and inflammatory response through the modulation of NF-kappaB transcriptional regulatory activity (PubMed:19684084). Involved in the regulation of heat shock response, seems to play a positive feedback with HSF1 to modulate heat-shock downstream gene expression (PubMed:17603013). Plays a role in the regulation of hematopoiesis even if the mechanisms are unknown (By similarity). In cancers such as thyroid or lung cancer, it has been described as promoter of cell proliferation, G1-to-S-phase transition and inhibitor of apoptosis (PubMed:15087392, PubMed:24941347). However, it negatively regulates self-renewal of liver cancer cells via suppresion of NOTCH2 signaling (PubMed:25985737). NA NA NA PE1 8 +NX_Q9NR09 Baculoviral IAP repeat-containing protein 6 4857 530255 5.67 0 Golgi apparatus;trans-Golgi network membrane;Spindle pole;Endosome;Centrosome;Cytoplasmic vesicle;Spindle;Midbody ring NA Anti-apoptotic protein which can regulate cell death by controlling caspases and by acting as an E3 ubiquitin-protein ligase. Has an unusual ubiquitin conjugation system in that it could combine in a single polypeptide, ubiquitin conjugating (E2) with ubiquitin ligase (E3) activity, forming a chimeric E2/E3 ubiquitin ligase. Its tragets include CASP9 and DIABLO/SMAC. Acts as an inhibitor of CASP3, CASP7 and CASP9. Important regulator for the final stages of cytokinesis. Crucial for normal vesicle targeting to the site of abscission, but also for the integrity of the midbody and the midbody ring, and its striking ubiquitin modification. Ubiquitinated. Ubiquitination is mediated by the RNF41 E3 ligase and leads to proteasomal degradation, impairing inhibition of apoptosis. Deubiquitinated by USP8/UBPY. In the C-terminal section; belongs to the ubiquitin-conjugating enzyme family. Ubiquitin mediated proteolysis PE1 2 +NX_Q9NR11 Zinc finger protein 302 478 54814 9.13 0 Cytoplasmic vesicle;Nucleus;Cytoskeleton NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9NR12 PDZ and LIM domain protein 7 457 49845 8.76 0 Cytoplasm;Focal adhesion;Cytoskeleton NA May function as a scaffold on which the coordinated assembly of proteins can occur. May play a role as an adapter that, via its PDZ domain, localizes LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Involved in both of the two fundamental mechanisms of bone formation, direct bone formation (e.g. Embryonic flat bones mandible and cranium), and endochondral bone formation (e.g. Embryonic long bone development). Plays a role during fracture repair. Involved in BMP6 signaling pathway (By similarity). NA NA RET signaling PE1 5 +NX_Q9NR16 Scavenger receptor cysteine-rich type 1 protein M160 1453 159239 5.44 1 Cell membrane;Secreted;Nucleoplasm;Centrosome;Cytosol NA NA NA NA NA PE1 12 +NX_Q9NR19 Acetyl-coenzyme A synthetase, cytoplasmic 701 78580 6.02 0 Nucleoplasm;Cytosol;Cytoplasmic vesicle NA Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids (PubMed:10843999, PubMed:28003429). Acetate is the preferred substrate (PubMed:10843999, PubMed:28003429). Can also utilize propionate with a much lower affinity (By similarity). Reversibly acetylated at Lys-661 (By similarity). The acetyl-CoA synthase activity is inhibited by acetylation and activated by deacetylation mediated by the deacetylases SIRT1 and SIRT3 (By similarity). Belongs to the ATP-dependent AMP-binding enzyme family. Glycolysis / Gluconeogenesis;Pyruvate metabolism;Propanoate metabolism;Metabolic pathways;Transcriptional activation of mitochondrial biogenesis;Ethanol oxidation PE1 20 +NX_Q9NR20 Dual specificity tyrosine-phosphorylation-regulated kinase 4 520 59608 9.03 0 Cytoplasm;Nucleus;Cytoplasmic vesicle NA Possible non-essential role in spermiogenesis. Autophosphorylation on Tyr-264 in the activation loop is required for kinase activity. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily. NA PE1 12 +NX_Q9NR21 Protein mono-ADP-ribosyltransferase PARP11 338 39597 6.86 0 Nucleoplasm;Cytosol;Nucleus;Nuclear pore complex NA Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins (PubMed:25043379, PubMed:25673562). Plays a role in nuclear envelope stability and nuclear remodeling during spermiogenesis (By similarity). Auto-mono-ADP-ribosylated. NA NA PE1 12 +NX_Q9NR22 Protein arginine N-methyltransferase 8 394 45291 6.47 0 Cell membrane NA S-adenosyl-L-methionine-dependent and membrane-associated arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and asymmetrical dimethylarginine (aDMA) in proteins such as NIFK, myelin basic protein, histone H4, H2A and H2A/H2B dimer (PubMed:16051612, PubMed:17925405, PubMed:26876602, PubMed:26529540). Able to mono- and dimethylate EWS protein; however its precise role toward EWS remains unclear as it still interacts with fully methylated EWS (PubMed:18320585). NA Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family. PRMT8 subfamily. NA PE1 12 +NX_Q9NR23 Growth/differentiation factor 3 364 41387 8.2 0 Cytoplasm;Secreted Microphthalmia, isolated, with coloboma, 6;Klippel-Feil syndrome 3, autosomal dominant;Microphthalmia, isolated, 7 Growth factor involved in early embryonic development and adipose-tissue homeostasis. During embryogenesis controls formation of anterior visceral endoderm and mesoderm and the establishment of anterior-posterior identity through a receptor complex comprising the receptor ACVR1B and the coreceptor TDGF1/Cripto (By similarity). Regulates adipose-tissue homeostasis and energy balance under nutrient overload in part by signaling through the receptor complex based on ACVR1C and TDGF1/Cripto (PubMed:21805089). Synthesized as large precursor molecule that undergo proteolytic cleavage, releasing the pro-domain from the active, receptor binding, C-terminal region of the molecule. Belongs to the TGF-beta family. NA PE1 12 +NX_Q9NR28 Diablo homolog, mitochondrial 239 27131 5.68 0 Mitochondrion Deafness, autosomal dominant, 64 Promotes apoptosis by activating caspases in the cytochrome c/Apaf-1/caspase-9 pathway. Acts by opposing the inhibitory activity of inhibitor of apoptosis proteins (IAP). Inhibits the activity of BIRC6/bruce by inhibiting its binding to caspases.;Is defective in the capacity to down-regulate the XIAP/BIRC4 abundance.;Also disrupts XIAP/BIRC4 interacting with processed caspase-9 and promotes caspase-3 activation.;Attenuates the stability and apoptosis-inhibiting activity of XIAP/BIRC4 by promoting XIAP/BIRC4 ubiquitination and degradation through the ubiquitin-proteasome pathway. Ubiquitinated by BIRC7/livin.;DIABLO is phosphorylated by MAPK10 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Release of apoptotic factors from the mitochondria;SMAC (DIABLO) binds to IAPs;SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes;Regulation of the apoptosome activity;SMAC, XIAP-regulated apoptotic response PE1 12 +NX_Q9NR30 Nucleolar RNA helicase 2 783 87344 9.32 0 Mitochondrion;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA RNA helicase that acts as a sensor of the transcriptional status of both RNA polymerase (Pol) I and II: promotes ribosomal RNA (rRNA) processing and transcription from polymerase II (Pol II) (PubMed:25470060). Binds various RNAs, such as rRNAs, snoRNAs, 7SK and, at lower extent, mRNAs (PubMed:25470060). In the nucleolus, localizes to rDNA locus, where it directly binds rRNAs and snoRNAs, and promotes rRNA transcription, processing and modification. Required for rRNA 2'-O-methylation, possibly by promoting the recruitment of late-acting snoRNAs SNORD56 and SNORD58 with pre-ribosomal complexes (PubMed:25470060, PubMed:25477391). In the nucleoplasm, binds 7SK RNA and is recruited to the promoters of Pol II-transcribed genes: acts by facilitating the release of P-TEFb from inhibitory 7SK snRNP in a manner that is dependent on its helicase activity, thereby promoting transcription of its target genes (PubMed:25470060). Functions as cofactor for JUN-activated transcription: required for phosphorylation of JUN at 'Ser-77' (PubMed:11823437, PubMed:25260534). Can unwind double-stranded RNA (helicase) and can fold or introduce a secondary structure to a single-stranded RNA (foldase) (PubMed:9461305). Involved in rRNA processing (PubMed:14559904, PubMed:18180292). May bind to specific miRNA hairpins (PubMed:28431233). Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of proinflammatory cytokines via the adapter molecule TICAM1 (By similarity). NA Belongs to the DEAD box helicase family. DDX21/DDX50 subfamily. Major pathway of rRNA processing in the nucleolus and cytosol;B-WICH complex positively regulates rRNA expression PE1 10 +NX_Q9NR31 GTP-binding protein SAR1a 198 22367 6.22 0 Golgi apparatus;Endoplasmic reticulum NA Involved in transport from the endoplasmic reticulum to the Golgi apparatus (By similarity). Required to maintain SEC16A localization at discrete locations on the ER membrane perhaps by preventing its dissociation. SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining endoplasmic reticulum exit sites (ERES). NA Belongs to the small GTPase superfamily. SAR1 family. Protein processing in endoplasmic reticulum;Legionellosis PE1 10 +NX_Q9NR33 DNA polymerase epsilon subunit 4 117 12209 4.87 0 Nucleoplasm;Cytosol;Nucleus NA Accessory component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in DNA repair and in chromosomal DNA replication (By similarity). NA NA Purine metabolism;Pyrimidine metabolism;Metabolic pathways;DNA replication;Base excision repair;Nucleotide excision repair;HTLV-I infection;Activation of the pre-replicative complex;Termination of translesion DNA synthesis;PCNA-Dependent Long Patch Base Excision Repair;Recognition of DNA damage by PCNA-containing replication complex;Telomere C-strand synthesis initiation;DNA replication initiation;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Homologous Recombination (HRR);Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER PE1 2 +NX_Q9NR34 Mannosyl-oligosaccharide 1,2-alpha-mannosidase IC 630 70911 7.01 1 Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus membrane NA Involved in the maturation of Asn-linked oligosaccharides. Trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce first Man(8)GlcNAc(2) then Man(6)GlcNAc and a small amount of Man(5)GlcNAc. NA Belongs to the glycosyl hydrolase 47 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Protein processing in endoplasmic reticulum;Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2;Intra-Golgi traffic PE1 1 +NX_Q9NR45 Sialic acid synthase 359 40308 6.29 0 Nucleoplasm Spondyloepimetaphyseal dysplasia, Genevieve type Produces N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN). Can also use N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of Neu5Ac and KDN, respectively. NA NA Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Sialic acid metabolism PE1 9 +NX_Q9NR46 Endophilin-B2 395 43974 5.72 0 Nucleoplasm;Cytoplasm;Cytosol NA NA NA Belongs to the endophilin family. Endocytosis PE1 9 +NX_Q9NR48 Histone-lysine N-methyltransferase ASH1L 2969 332790 9.46 0 Golgi apparatus;Chromosome;Nucleoplasm;Tight junction;Nucleus Mental retardation, autosomal dominant 52 Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me) (PubMed:21239497). Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). The physiological significance of the H3K9me1 activity is unclear (By similarity). Methylated at Gln-1220 by N6AMT1. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily. Lysine degradation;Tight junction;PKMTs methylate histone lysines PE1 1 +NX_Q9NR50 Translation initiation factor eIF-2B subunit gamma 452 50240 6.08 0 Cytoplasm;Cytosol;Cytoplasmic vesicle Leukodystrophy with vanishing white matter Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. NA Belongs to the eIF-2B gamma/epsilon subunits family. RNA transport;Recycling of eIF2:GDP PE1 1 +NX_Q9NR55 Basic leucine zipper transcriptional factor ATF-like 3 127 14468 9.12 0 Nucleus NA AP-1 family transcription factor that controls the differentiation of CD8(+) thymic conventional dendritic cells in the immune system. Required for development of CD8-alpha(+) classical dendritic cells (cDCs) and related CD103(+) dendritic cells that cross-present antigens to CD8 T-cells and produce interleukin-12 (IL12) in response to pathogens (By similarity). Acts via the formation of a heterodimer with JUN family proteins that recognizes and binds DNA sequence 5'-TGA[CG]TCA-3' and regulates expression of target genes. NA Belongs to the bZIP family. NA PE1 1 +NX_Q9NR56 Muscleblind-like protein 1 388 41817 9.16 0 Cytoplasm;Nucleoplasm;Cytosol;Cytoplasmic granule;Nucleus Corneal dystrophy, Fuchs endothelial, 3;Dystrophia myotonica 1 Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y-3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues. NA Belongs to the muscleblind family. NA PE1 3 +NX_Q9NR61 Delta-like protein 4 685 74605 6.51 1 Cell membrane Adams-Oliver syndrome 6 Involved in the Notch signaling pathway as Notch ligand (PubMed:11134954). Activates NOTCH1 and NOTCH4. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting (PubMed:20616313). Essential for retinal progenitor proliferation. Required for suppressing rod fates in late retinal progenitors as well as for proper generation of other retinal cell types (By similarity). During spinal cord neurogenesis, inhibits V2a interneuron fate (PubMed:17728344). NA NA Notch signaling pathway;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activated NOTCH1 Transmits Signal to the Nucleus;Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant;Constitutive Signaling by NOTCH1 HD Domain Mutants;NOTCH2 Activation and Transmission of Signal to the Nucleus;NOTCH3 Activation and Transmission of Signal to the Nucleus;NOTCH4 Activation and Transmission of Signal to the Nucleus PE1 15 +NX_Q9NR63 Cytochrome P450 26B1 512 57513 8.68 0 Microsome membrane;Cytosol;Endoplasmic reticulum membrane Radiohumeral fusions with other skeletal and craniofacial anomalies Has also a significant activity in oxidation of tazarotenic acid and may therefore metabolize that xenobiotic in vivo.;Involved in the metabolism of retinoic acid (RA), rendering this classical morphogen inactive through oxidation. Involved in the specific inactivation of all-trans-retinoic acid (all-trans-RA), with a preference for the following substrates: all-trans-RA > 9-cis-RA > 13-cis-RA. Generates several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA, and 18-OH-RA. Essential for postnatal survival. Plays a central role in germ cell development: acts by degrading RA in the developing testis, preventing STRA8 expression, thereby leading to delay of meiosis. Required for the maintenance of the undifferentiated state of male germ cells during embryonic development in Sertoli cells, inducing arrest in G0 phase of the cell cycle and preventing meiotic entry. Plays a role in skeletal development, both at the level of patterning and in the ossification of bone and the establishment of some synovial joints. NA Belongs to the cytochrome P450 family. Retinol metabolism;RA biosynthesis pathway;Vitamins;Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) PE1 2 +NX_Q9NR64 Kelch-like protein 1 748 82680 5.95 0 Cytoskeleton NA May play a role in organizing the actin cytoskeleton of the brain cells. NA NA NA PE1 13 +NX_Q9NR71 Neutral ceramidase 780 85516 6.77 1 Extracellular exosome;Mitochondrion;Cell membrane;Secreted;Caveola;Golgi apparatus membrane;Membrane raft NA Plasma membrane ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at neutral pH (PubMed:10781606, PubMed:16229686, PubMed:26190575). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:15946935, PubMed:19345744, PubMed:24798654). Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine (PubMed:11278489, PubMed:17475390). Together with sphingomyelinase, participates in the production of sphingosine and sphingosine-1-phosphate from the degradation of sphingomyelin, a sphingolipid enriched in the plasma membrane of cells (PubMed:16061940). Also participates in the hydrolysis of ceramides from the extracellular milieu allowing the production of sphingosine-1-phosphate inside and outside cells (By similarity). This is the case for instance with the digestion of dietary sphingolipids in the intestinal tract (By similarity). Proteolytic cleavage of the N-terminus removes the signal-anchor and produces a soluble form of the protein.;N-glycosylated. Required for enzyme activity.;O-glycosylated. Required to retain it as a type II membrane protein at the cell surface.;Phosphorylated. May prevent ubiquitination and subsequent degradation.;Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is triggered by nitric oxide. Belongs to the neutral ceramidase family. Lipid metabolism; sphingolipid metabolism.;Sphingolipid metabolism;Metabolic pathways;Glycosphingolipid metabolism PE1 10 +NX_Q9NR77 Peroxisomal membrane protein 2 195 22253 10.58 4 Peroxisome membrane NA Seems to be involved in pore-forming activity and may contribute to the unspecific permeability of the peroxisomal membrane. NA Belongs to the peroxisomal membrane protein PXMP2/4 family. Peroxisome;Glyoxylate metabolism and glycine degradation;Class I peroxisomal membrane protein import PE1 12 +NX_Q9NR80 Rho guanine nucleotide exchange factor 4 690 79067 6.55 0 Ruffle membrane;Cytoplasm NA Acts as guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Binding of APC may activate RAC1 GEF activity. The APC-ARHGEF4 complex seems to be involved in cell migration as well as in E-cadherin-mediated cell-cell adhesion. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Involved in tumor angiogenesis and may play a role in intestinal adenoma formation and tumor progression. NA NA Regulation of actin cytoskeleton;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 2 +NX_Q9NR81 Rho guanine nucleotide exchange factor 3 526 59783 6.03 0 Cytoplasm;Cytosol;Nucleus NA Acts as guanine nucleotide exchange factor (GEF) for RhoA and RhoB GTPases. NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 3 +NX_Q9NR82 Potassium voltage-gated channel subfamily KQT member 5 932 102179 9.55 6 Cytoplasmic vesicle;Cell membrane Mental retardation, autosomal dominant 46 Associates with KCNQ3 to form a potassium channel which contributes to M-type current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons. Therefore, it is important in the regulation of neuronal excitability. May contribute, with other potassium channels, to the molecular diversity of a heterogeneous population of M-channels, varying in kinetic and pharmacological properties, which underlie this physiologically important current. Insensitive to tetraethylammonium, but inhibited by barium, linopirdine and XE991. Activated by niflumic acid and the anticonvulsant retigabine. As the native M-channel, the potassium channel composed of KCNQ3 and KCNQ5 is also suppressed by activation of the muscarinic acetylcholine receptor CHRM1. NA Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.5/KCNQ5 sub-subfamily. Cholinergic synapse;Voltage gated Potassium channels PE1 6 +NX_Q9NR83 SLC2A4 regulator 387 41267 8.57 0 Cytoplasm;Nucleus speckle;Nucleus NA Transcription factor involved in SLC2A4 and HD gene transactivation. Binds to the consensus sequence 5'-GCCGGCG-3'. NA NA NA PE1 20 +NX_Q9NR90 Deleted in azoospermia protein 3 486 54989 8.9 0 Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation. NA Belongs to the RRM DAZ family. NA PE1 Y +NX_Q9NR96 Toll-like receptor 9 1032 115860 8.55 1 Endosome;Endoplasmic reticulum membrane;Phagosome;Lysosome NA Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR9 is a nucleotide-sensing TLR which is activated by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:11564765, PubMed:17932028). Controls lymphocyte response to Helicobacter infection (By similarity). Upon CpG stimulation, induces B-cell proliferation, activation, survival and antibody production (PubMed:23857366). Activated by proteolytic cleavage of the flexible loop between repeats LRR14 and LRR15 within the ectodomain. Cleavage requires UNC93B1. Proteolytically processed by first removing the majority of the ectodomain by either asparagine endopeptidase (AEP) or a cathepsin followed by a trimming event that is solely cathepsin mediated and required for optimal receptor signaling. Belongs to the Toll-like receptor family. Toll-like receptor signaling pathway;Chagas disease (American trypanosomiasis);African trypanosomiasis;Malaria;Tuberculosis;Measles;Herpes simplex infection;PI3K Cascade;TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;MyD88 dependent cascade initiated on endosome;Toll Like Receptor 9 (TLR9) Cascade;Trafficking and processing of endosomal TLR PE1 3 +NX_Q9NR97 Toll-like receptor 8 1041 119828 6.2 1 Membrane NA Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. NA Belongs to the Toll-like receptor family. Toll-like receptor signaling pathway;TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;MyD88 dependent cascade initiated on endosome;Trafficking and processing of endosomal TLR;Toll Like Receptor 7/8 (TLR7/8) Cascade PE1 X +NX_Q9NR99 Matrix-remodeling-associated protein 5 2828 312150 8.57 0 Secreted Lung cancer In kidney, has anti-inflammatory and anti-fibrotic properties by limiting the induction of chemokines, fibronectin and collagen expression in response to TGB1 and pro-inflammatory stimuli. NA NA NA PE1 X +NX_Q9NRA0 Sphingosine kinase 2 654 69217 6.47 0 Cytoplasm;Lysosome membrane;Endoplasmic reticulum;Cytoplasmic vesicle;Mitochondrion inner membrane;Nucleus NA Catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro-dihydrosphingosine, D-erythro-sphingosine and L-threo-dihydrosphingosine. Binds phosphoinositides (PubMed:19168031, PubMed:12954646). In contrast to prosurvival SPHK1, has a positive effect on intracellular ceramide levels, inhibits cells growth and enhances apoptosis (PubMed:16118219). In mitochondria, is important for cytochrome-c oxidase assembly and mitochondrial respiration. The SPP produced in mitochondria binds PHB2 and modulates the regulation via PHB2 of complex IV assembly and respiration (PubMed:20959514). In nucleus, plays a role in epigenetic regulation of gene expression. Interacts with HDAC1 and HDAC2 and, through SPP production, inhibits their enzymatic activity, preventing the removal of acetyl groups from lysine residues with histones. Upregulates acetylation of histone H3-K9, histone H4-K5 and histone H2B-K12 (PubMed:19729656). In nucleus, may have an inhibitory effect on DNA synthesis and cell cycle (PubMed:12954646, PubMed:16103110). In mast cells, is the main regulator of SPP production which mediates calcium influx, NF-kappa-B activation, cytokine production, such as TNF and IL6, and degranulation of mast cells (By similarity). In dopaminergic neurons, is involved in promoting mitochondrial functions regulating ATP and ROS levels (By similarity). Also involved in the regulation of glucose and lipid metabolism (By similarity). Cleaved by CASP1 in apoptotic cells. The truncated form is released from cells.;Phosphorylated by PKD on Ser-419 and Ser-421 upon PMA treatment. Phosphorylation induces export from the nucleus to the cytoplasm (PubMed:17635916). Phosphorylated by MAPK1 and MAPK2 at Ser-387 and Thr-614, phosphorylation is induced by agonists such as EGF and PMA and increases kinase activity (PubMed:17311928). NA Sphingolipid metabolism;Metabolic pathways;Calcium signaling pathway;VEGF signaling pathway;Fc gamma R-mediated phagocytosis;Tuberculosis;Sphingolipid de novo biosynthesis PE1 19 +NX_Q9NRA1 Platelet-derived growth factor C 345 39029 5.77 0 Cell membrane;Secreted;Cytosol;Cytoplasmic granule;Nucleus NA Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen and chemoattractant for cells of mesenchymal origin. Required for normal skeleton formation during embryonic development, especially for normal development of the craniofacial skeleton and for normal development of the palate. Required for normal skin morphogenesis during embryonic development. Plays an important role in wound healing, where it appears to be involved in three stages: inflammation, proliferation and remodeling. Plays an important role in angiogenesis and blood vessel development. Involved in fibrotic processes, in which transformation of interstitial fibroblasts into myofibroblasts plus collagen deposition occurs. The CUB domain has mitogenic activity in coronary artery smooth muscle cells, suggesting a role beyond the maintenance of the latency of the PDGF domain. In the nucleus, PDGFC seems to have additional function. N-glycosylated.;Proteolytic removal of the N-terminal CUB domain releasing the core domain is necessary for unmasking the receptor-binding epitopes of the core domain. Cleavage after basic residues in the hinge region (region connecting the CUB and growth factor domains) gives rise to the receptor-binding form. Cleaved by PLAT and PLG.;Sumoylated with SUMO1. Belongs to the PDGF/VEGF growth factor family. Cytokine-cytokine receptor interaction;Focal adhesion;Gap junction;Regulation of actin cytoskeleton;Prostate cancer;Melanoma;Signaling by PDGF PE1 4 +NX_Q9NRA2 Sialin 495 54640 8.51 12 Synaptic vesicle membrane;Cytosol;Lysosome membrane;Cell membrane Salla disease;Infantile sialic acid storage disorder Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved from sialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate and glutamate membrane potential-dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also functions as an electrogenic 2NO(3)(-)/H(+) cotransporter in the plasma membrane of salivary gland acinar cells, mediating the physiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted in saliva. NA Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. Lysosome;Sialic acid metabolism;Organic anion transporters;Defective SLC17A5 causes Salla disease (SD) and ISSD PE1 6 +NX_Q9NRA8 Eukaryotic translation initiation factor 4E transporter 985 108201 8.45 0 Cytoplasm;Nucleus speckle;PML body;Cytoplasmic vesicle;Nucleus NA Nucleoplasmic shuttling protein, which inhibits translation initiation. Mediates the nuclear import of EIF4E by a piggy-back mechanism. NA NA NA PE1 22 +NX_Q9NRB3 Carbohydrate sulfotransferase 12 414 48414 9.37 1 Golgi apparatus;Golgi apparatus membrane NA Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Activity toward partially desulfated dermatan sulfate is however lower. Does not form 4, 6-di-O-sulfated GalNAc when chondroitin sulfate C is used as an acceptor. NA Belongs to the sulfotransferase 2 family. Glycosaminoglycan biosynthesis - chondroitin sulfate;Sulfur metabolism;Chondroitin sulfate biosynthesis PE1 7 +NX_Q9NRC1 Suppressor of tumorigenicity 7 protein 585 67166 6.82 3 Membrane;Nucleoplasm;Cytosol NA May act as a tumor suppressor. NA Belongs to the ST7 family. NA PE1 7 +NX_Q9NRC6 Spectrin beta chain, non-erythrocytic 5 3674 416750 6.21 0 Cytoskeleton NA NA NA Belongs to the spectrin family. RAF/MAP kinase cascade;Interaction between L1 and Ankyrins;NCAM signaling for neurite out-growth;COPI-mediated anterograde transport PE1 15 +NX_Q9NRC8 NAD-dependent protein deacetylase sirtuin-7 400 44898 9.8 0 Cytoplasmic vesicle;Cytoplasm;Nucleolus NA NAD-dependent protein deacetylase that specifically mediates deacetylation of histone H3 at 'Lys-18' (H3K18Ac). In contrast to other histone deacetylases, displays selectivity for a single histone mark, H3K18Ac, directly linked to control of gene expression. H3K18Ac is mainly present around the transcription start site of genes and has been linked to activation of nuclear hormone receptors. SIRT7 thereby acts as a transcription repressor. Moreover, H3K18 hypoacetylation has been reported as a marker of malignancy in various cancers and seems to maintain the transformed phenotype of cancer cells. These data suggest that SIRT7 may play a key role in oncogenic transformation by suppresses expression of tumor suppressor genes by locus-specific deacetylation of H3K18Ac at promoter regions. Also required to restore the transcription of ribosomal RNA (rRNA) at the exit from mitosis: promotes the association of RNA polymerase I with the rDNA promoter region and coding region. Stimulates transcription activity of the RNA polymerase I complex. May also deacetylate p53/TP53 and promotes cell survival, however such data need additional confirmation. Phosphorylated during mitosis. Belongs to the sirtuin family. Class IV subfamily. NA PE1 17 +NX_Q9NRC9 Otoraplin 128 14332 4.87 0 Secreted NA NA NA Belongs to the MIA/OTOR family. NA PE1 20 +NX_Q9NRD0 F-box only protein 8 319 37068 7.62 0 Nucleoplasm;Cytosol NA May promote guanine-nucleotide exchange on an ARF. Promotes the activation of ARF through replacement of GDP with GTP (Potential). NA NA NA PE1 4 +NX_Q9NRD1 F-box only protein 6 293 33933 5.73 0 Cytoplasm NA Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complexes. Involved in endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranslocated into the cytosol and promoting their ubiquitination and subsequent degradation. Able to recognize and bind denatured glycoproteins, which are modified with not only high-mannose but also complex-type oligosaccharides. Also recognizes sulfated glycans. Also involved in DNA damage response by specifically recognizing activated CHEK1 (phosphorylated on 'Ser-345'), promoting its ubiquitination and degradation. Ubiquitination of CHEK1 is required to insure that activated CHEK1 does not accumulate as cells progress through S phase, or when replication forks encounter transient impediments during normal DNA replication. NA NA Protein modification; protein ubiquitination.;Protein processing in endoplasmic reticulum;Antigen processing: Ubiquitination & Proteasome degradation;Association of TriC/CCT with target proteins during biosynthesis;Neddylation PE1 1 +NX_Q9NRD5 PRKCA-binding protein 415 46600 5.17 0 Mitochondrion;Synaptosome;Membrane;Postsynaptic density;Cytosol;Perinuclear region;Cytoskeleton NA Probable adapter protein that bind to and organize the subcellular localization of a variety of membrane proteins containing some PDZ recognition sequence. Involved in the clustering of various receptors, possibly by acting at the receptor internalization level. Plays a role in synaptic plasticity by regulating the trafficking and internalization of AMPA receptors. May be regulated upon PRKCA activation. May regulate ASIC1/ASIC3 channel. Regulates actin polymerization by inhibiting the actin-nucleating activity of the Arp2/3 complex; the function is competetive with nucleation promoting factors and is linked to neuronal morphology regulation and AMPA receptor (AMPAR) endocytosis. Via interaction with the Arp2/3 complex involved in regulation of synaptic plasicity of excitatory synapses and required for spine shrinkage during long-term depression (LTD). Involved in regulation of astrocyte morphology, antagonistic to Arp2/3 complex activator WASL/N-WASP function. Phosphorylation at Thr-82 appears to inhibit the interaction with AMPA receptors.;Palmitoylation on Cys-413 is essential for long-term synaptic depression (LTD). NA Cell surface interactions at the vascular wall;Trafficking of GluR2-containing AMPA receptors PE1 22 +NX_Q9NRD8 Dual oxidase 2 1548 175364 8.02 7 Apical cell membrane;Cell junction Thyroid dyshormonogenesis 6 Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial defense at the surface of mucosa. May have its own peroxidase activity through its N-terminal peroxidase-like domain. N-glycosylated. In the N-terminal section; belongs to the peroxidase family. Hormone biosynthesis; thyroid hormone biosynthesis.;Thyroxine biosynthesis PE1 15 +NX_Q9NRD9 Dual oxidase 1 1551 177235 8.12 7 Apical cell membrane NA Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial defense at the surface of mucosa. May have its own peroxidase activity through its N-terminal peroxidase-like domain. N-glycosylated. In the N-terminal section; belongs to the peroxidase family. Hormone biosynthesis; thyroid hormone biosynthesis.;Thyroxine biosynthesis PE1 15 +NX_Q9NRE1 Matrix metalloproteinase-26 261 29708 5.96 0 Extracellular matrix NA May hydrolyze collagen type IV, fibronectin, fibrinogen, beta-casein, type I gelatin and alpha-1 proteinase inhibitor. Is also able to activate progelatinase B. NA Belongs to the peptidase M10A family. NA PE1 11 +NX_Q9NRE2 Teashirt homolog 2 1034 115005 8 0 Golgi apparatus;Nucleoplasm;Nucleus NA Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential). Sumoylated. Belongs to the teashirt C2H2-type zinc-finger protein family. NA PE1 20 +NX_Q9NRF2 SH2B adapter protein 1 756 79366 5.26 0 Membrane;Cytoplasm;Nucleus;Cytoplasmic vesicle NA Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways mediated by Janus kinase (JAK) and receptor tyrosine kinases, including the receptors of insulin (INS), insulin-like growth factor I (IGF1), nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), glial cell line-derived neurotrophic factor (GDNF), platelet-derived growth factor (PDGF) and fibroblast growth factors (FGFs). In growth hormone (GH) signaling, autophosphorylated ('Tyr-813') JAK2 recruits SH2B1, which in turn is phosphorylated by JAK2 on tyrosine residues. These phosphotyrosines form potential binding sites for other signaling proteins. GH also promotes serine/threonine phosphorylation of SH2B1 and these phosphorylated residues may serve to recruit other proteins to the GHR-JAK2-SH2B1 complexes, such as RAC1. In leptin (LEP) signaling, binds to and potentiates the activation of JAK2 by globally enhancing downstream pathways. In response to leptin, binds simultaneously to both, JAK2 and IRS1 or IRS2, thus mediating formation of a complex of JAK2, SH2B1 and IRS1 or IRS2. Mediates tyrosine phosphorylation of IRS1 and IRS2, resulting in activation of the PI 3-kinase pathway. Acts as positive regulator of NGF-mediated activation of the Akt/Forkhead pathway; prolongs NGF-induced phosphorylation of AKT1 on 'Ser-473' and AKT1 enzymatic activity. Enhances the kinase activity of the cytokine receptor-associated tyrosine kinase JAK2 and of other receptor tyrosine kinases, such as FGFR3 and NTRK1. For JAK2, the mechanism seems to involve dimerization of both, SH2B1 and JAK2. Enhances RET phosphorylation and kinase activity. Isoforms seem to be differentially involved in IGF-I and PDGF-induced mitogenesis (By similarity). Phosphorylated on tyrosine residues in response to receptor kinase stimulation. Phosphorylated by RET.;SH2B1 is phosphorylated by FGFR3 Belongs to the SH2B adapter family. Neurotrophin signaling pathway;Factors involved in megakaryocyte development and platelet production;Prolactin receptor signaling;Growth hormone receptor signaling;Signaling by Leptin PE1 16 +NX_Q9NRF8 CTP synthase 2 586 65678 6.46 0 Nucleoplasm;Cytosol NA Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen. Constitutes the rate-limiting enzyme in the synthesis of cytosine nucleotides. NA Belongs to the CTP synthase family. Pyrimidine metabolism; CTP biosynthesis via de novo pathway; CTP from UDP: step 2/2.;Pyrimidine metabolism;Metabolic pathways;Interconversion of nucleotide di- and triphosphates PE1 X +NX_Q9NRF9 DNA polymerase epsilon subunit 3 147 16860 4.68 0 Nucleoplasm;Nucleolus;Nucleus NA Accessory component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in DNA repair and in chromosomal DNA replication (By similarity). Forms a complex with CHRAC1 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome-remodeling activity of ISWI/SNF2H and ACF1 (PubMed:10801849). NA NA Purine metabolism;Pyrimidine metabolism;Metabolic pathways;DNA replication;Base excision repair;Nucleotide excision repair;HTLV-I infection;Activation of the pre-replicative complex;Termination of translesion DNA synthesis;PCNA-Dependent Long Patch Base Excision Repair;Recognition of DNA damage by PCNA-containing replication complex;Telomere C-strand synthesis initiation;DNA replication initiation;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Homologous Recombination (HRR);Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER PE1 9 +NX_Q9NRG0 Chromatin accessibility complex protein 1 131 14711 4.99 0 Nucleoplasm;Nucleus NA Forms a complex with DNA polymerase epsilon subunit POLE3 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome remodeling activity of ISWI/SNF2H and ACF1. NA NA NA PE1 8 +NX_Q9NRG1 Phosphoribosyltransferase domain-containing protein 1 225 25674 5.76 0 Golgi apparatus;Nucleoplasm;Cytosol NA Has low, barely detectable phosphoribosyltransferase activity (in vitro). Binds GMP, IMP and alpha-D-5-phosphoribosyl 1-pyrophosphate (PRPP). Is not expected to contribute to purine metabolism or GMP salvage. NA Belongs to the purine/pyrimidine phosphoribosyltransferase family. NA PE1 10 +NX_Q9NRG4 N-lysine methyltransferase SMYD2 433 49688 6.27 0 Cytosol;Mitochondrion;Nucleus;Cytoskeleton NA Protein-lysine N-methyltransferase that methylates both histones and non-histone proteins, including p53/TP53 and RB1. Specifically methylates histone H3 'Lys-4' (H3K4me) and dimethylates histone H3 'Lys-36' (H3K36me2). Shows even higher methyltransferase activity on p53/TP53. Monomethylates 'Lys-370' of p53/TP53, leading to decreased DNA-binding activity and subsequent transcriptional regulation activity of p53/TP53. Monomethylates RB1 at 'Lys-860'. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. PKMTs methylate histone lysines;Regulation of TP53 Activity through Methylation PE1 1 +NX_Q9NRG7 Epimerase family protein SDR39U1 293 31077 9.09 0 Nucleoplasm;Cytosol NA Putative NADP-dependent oxidoreductase. NA Belongs to the NAD(P)-dependent epimerase/dehydratase family. SDR39U1 subfamily. NA PE1 14 +NX_Q9NRG9 Aladin 546 59574 7.26 0 Nuclear pore complex;Nucleus membrane;Spindle pole;Centrosome;Cytosol Achalasia-addisonianism-alacrima syndrome Plays a role in the normal development of the peripheral and central nervous system (PubMed:11062474, PubMed:11159947, PubMed:16022285). Required for the correct localization of aurora kinase AURKA and the microtubule minus end-binding protein NUMA1 as well as a subset of AURKA targets which ensures proper spindle formation and timely chromosome alignment (PubMed:26246606). NA NA RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 12 +NX_Q9NRH1 Protein YAE1 homolog 226 25299 5.35 0 Cytoplasm;Cytosol;Nucleus NA The complex LTO1:YAE1 functions as a target specific adapter that probably recruits apo-ABCE1 to the cytosolic iron-sulfur protein assembly (CIA) complex machinery (PubMed:26182403). May be required for biogenesis of the large ribosomal subunit and initiation of translation (PubMed:26182403). NA NA NA PE1 7 +NX_Q9NRH2 SNF-related serine/threonine-protein kinase 765 84276 6.62 0 Cell membrane;Cell junction;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA May play a role in hematopoietic cell proliferation or differentiation. Potential mediator of neuronal apoptosis. Autophosphorylated. Phosphorylation on Thr-173 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. NA PE1 3 +NX_Q9NRH3 Tubulin gamma-2 chain 451 51092 5.5 0 Centrosome;Centriolar satellite NA Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta chain minus-end nucleation, centrosome duplication and spindle formation (By similarity). Phosphorylation at Ser-131 by BRSK1 regulates centrosome duplication, possibly by mediating relocation of gamma-tubulin and its associated proteins from the cytoplasm to the centrosome. Belongs to the tubulin family. Recruitment of mitotic centrosome proteins and complexes;Recruitment of NuMA to mitotic centrosomes PE1 17 +NX_Q9NRI5 Disrupted in schizophrenia 1 protein 854 93611 5.96 0 Cytoplasm;Mitochondrion;Centrosome;Postsynaptic density;Cytoskeleton Schizophrenia 9 Involved in the regulation of multiple aspects of embryonic and adult neurogenesis. Required for neural progenitor proliferation in the ventrical/subventrical zone during embryonic brain development and in the adult dentate gyrus of the hippocampus. Participates in the Wnt-mediated neural progenitor proliferation as a positive regulator by modulating GSK3B activity and CTNNB1 abundance. Plays a role as a modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including neuron positioning, dendritic development and synapse formation. Inhibits the activation of AKT-mTOR signaling upon interaction with CCDC88A. Regulates the migration of early-born granule cell precursors toward the dentate gyrus during the hippocampal development. Plays a role, together with PCNT, in the microtubule network formation. Ubiquitinated. Ubiquitination with 'Lys-48'-linked polyubiquitin chains leads to its proteasomal degradation. NA NA PE1 1 +NX_Q9NRI6 Putative peptide YY-2 33 3432 3.92 0 Secreted NA NA NA Belongs to the NPY family. NA PE5 17 +NX_Q9NRI7 Putative pancreatic polypeptide 2 21 2179 7.74 0 NA NA NA NA Belongs to the NPY family. NA PE5 17 +NX_Q9NRJ1 Protein MOST-1 99 11219 8.59 0 Microsome membrane;Cytoplasm;Endoplasmic reticulum membrane NA May be involved in cell survival, proliferation and progression of cancer cells. NA NA NA PE1 8 +NX_Q9NRJ2 Putative uncharacterized protein GSN-AS1 163 17657 10.93 0 NA NA NA NA NA NA PE5 9 +NX_Q9NRJ3 C-C motif chemokine 28 127 14280 10.23 0 Secreted NA Chemotactic activity for resting CD4, CD8 T-cells and eosinophils. Binds to CCR3 and CCR10 and induces calcium mobilization in a dose-dependent manner. NA Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Intestinal immune network for IgA production;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 5 +NX_Q9NRJ4 Tubby-related protein 4 1543 169000 7.49 0 Cytoplasm NA May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the TUB family. Protein modification; protein ubiquitination.;Neddylation PE1 6 +NX_Q9NRJ5 Poly(A) polymerase beta 636 71681 6.02 0 Nucleus NA NA NA Belongs to the poly(A) polymerase family. mRNA surveillance pathway PE1 7 +NX_Q9NRJ7 Protocadherin beta-16 776 84983 5 1 Membrane;Cytoplasmic vesicle;Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9NRK6 ATP-binding cassette sub-family B member 10, mitochondrial 738 79148 9.87 5 Mitochondrion inner membrane NA May mediate critical mitochondrial transport functions related to heme biosynthesis. NA Belongs to the ABC transporter superfamily. ABCB family. Mitochondrial peptide exporter (TC 3.A.1.212) subfamily. ABC transporters;Mitochondrial ABC transporters PE1 1 +NX_Q9NRL2 Bromodomain adjacent to zinc finger domain protein 1A 1556 178702 6.2 0 Endoplasmic reticulum;Nucleus NA Component of the histone-fold protein complex CHRAC complex which facilitates nucleosome sliding by the ACF complex and enhances ACF-mediated chromatin assembly. The C-terminal regions of both CHRAC1 and POLE1 are required for these functions.;Component of the ACF complex, an ATP-dependent chromatin remodeling complex, that regulates spacing of nucleosomes using ATP to generate evenly spaced nucleosomes along the chromatin. The ATPase activity of the complex is regulated by the length of flanking DNA. Also involved in facilitating the DNA replication process. BAZ1A is the accessory, non-catalytic subunit of the complex which can enhance and direct the process provided by the ATPase subunit, SMARCA5, probably through targeting pericentromeric heterochromatin in late S phase. Moves end-positioned nucleosomes to a predominantly central position. May have a role in nuclear receptor-mediated transcription repression. NA Belongs to the WAL family. NA PE1 14 +NX_Q9NRL3 Striatin-4 753 80596 5.21 0 Membrane;Cytoplasm;Dendritic spine;Cytosol NA Binds calmodulin in a calcium dependent manner. May function as scaffolding or signaling protein. NA Belongs to the WD repeat striatin family. NA PE1 19 +NX_Q9NRM0 Solute carrier family 2, facilitated glucose transporter member 9 540 58702 9.09 12 Basolateral cell membrane;Apical cell membrane Hypouricemia renal 2 Urate transporter, which may play a role in the urate reabsorption by proximal tubules (PubMed:18327257, PubMed:28083649). Does not transport glucose, fructose or galactose (PubMed:28083649). NA Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. Cellular hexose transport;Defective SLC2A9 causes hypouricemia renal 2 (RHUC2) PE1 4 +NX_Q9NRM1 Enamelin 1142 128785 6.36 0 Extracellular matrix Amelogenesis imperfecta 1C;Amelogenesis imperfecta 1B Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation. Phosphorylated by FAM20C in vitro. NA Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 4 +NX_Q9NRM2 Zinc finger protein 277 450 52788 5.19 0 Nucleoplasm;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA Belongs to the ZNF277 family. NA PE1 7 +NX_Q9NRM6 Interleukin-17 receptor B 502 55885 8.44 1 Secreted;Cell membrane NA Receptor for the proinflammatory cytokines IL17B and IL17E. May play a role in controlling the growth and/or differentiation of hematopoietic cells. NA NA Cytokine-cytokine receptor interaction;Interleukin-17 signaling PE1 3 +NX_Q9NRM7 Serine/threonine-protein kinase LATS2 1088 120136 8.44 0 Cytoplasm;Centriolar satellite;Spindle pole;Centrosome;Cytosol;Nucleus NA Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Acts as a tumor suppressor which plays a critical role in centrosome duplication, maintenance of mitotic fidelity and genomic stability. Negatively regulates G1/S transition by down-regulating cyclin E/CDK2 kinase activity. Negative regulator of the androgen receptor. Phosphorylates SNAI1 in the nucleus leading to its nuclear retention and stabilization, which enhances its epithelial-mesenchymal transition and tumor cell invasion/migration activities. This tumor-promoting activity is independent of its effects upon YAP1 or WWTR1/TAZ. Autophosphorylated and phosphorylated during M-phase and the G1/S-phase of the cell cycle. Phosphorylated and activated by STK3/MST2. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. Signaling by Hippo PE1 13 +NX_Q9NRN5 Olfactomedin-like protein 3 406 46010 6.17 0 Cytoplasmic vesicle;Secreted NA Secreted scaffold protein that plays an essential role in dorsoventral patterning during early development. Stabilizes axial formation by restricting chordin (CHRD) activity on the dorsal side. Acts by facilitating the association between the tolloid proteases and their substrate chordin (CHRD), leading to enhance chordin (CHRD) degradation (By similarity). May have matrix-related function involved in placental and embryonic development, or play a similar role in other physiological processes. NA Belongs to the OLFML3 family. NA PE1 1 +NX_Q9NRN7 L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase 309 35776 6.35 0 Cytoplasm NA Catalyzes the post-translational modification of target proteins by phosphopantetheine. Can transfer the 4'-phosphopantetheine moiety from coenzyme A to a serine residue of a broad range of acceptors, such as the acyl carrier domain of FASN. NA Belongs to the P-Pant transferase superfamily. AcpS family. Pantothenate and CoA biosynthesis;Vitamin B5 (pantothenate) metabolism PE1 11 +NX_Q9NRN9 Methyltransferase-like protein 5 209 23719 6.23 0 Cytosol;Nucleolus NA Probable methyltransferase. NA Belongs to the methyltransferase superfamily. PrmA family. NA PE1 2 +NX_Q9NRP0 Oligosaccharyltransferase complex subunit OSTC 149 16829 9.23 3 Membrane;Endoplasmic reticulum NA Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. May be involved in N-glycosylation of APP (amyloid-beta precursor protein). Can modulate gamma-secretase cleavage of APP by enhancing endoprotelysis of PSEN1. NA Belongs to the OSTC family. Protein modification; protein glycosylation. PE1 4 +NX_Q9NRP2 COX assembly mitochondrial protein 2 homolog 79 9460 7.73 0 Mitochondrion NA May be involved in cytochrome c oxidase biogenesis. NA Belongs to the CMC family. Mitochondrial protein import PE1 16 +NX_Q9NRP4 Succinate dehydrogenase assembly factor 3, mitochondrial 125 14652 9.13 0 Mitochondrion matrix;Mitochondrion;Cytoskeleton NA Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Promotes maturation of the iron-sulfur protein subunit SDHB of the SDH catalytic dimer, protecting it from the deleterious effects of oxidants. May act together with SDHAF1. NA Belongs to the complex I LYR family. SDHAF3 subfamily. NA PE1 7 +NX_Q9NRP7 Serine/threonine-protein kinase 36 1315 143995 5.57 0 Cytoplasm;Cytosol;Nucleus NA Serine/threonine protein kinase which plays an important role in the sonic hedgehog (Shh) pathway by regulating the activity of GLI transcription factors (PubMed:10806483). Controls the activity of the transcriptional regulators GLI1, GLI2 and GLI3 by opposing the effect of SUFU and promoting their nuclear localization (PubMed:10806483). GLI2 requires an additional function of STK36 to become transcriptionally active, but the enzyme does not need to possess an active kinase catalytic site for this to occur (PubMed:10806483). Required for postnatal development, possibly by regulating the homeostasis of cerebral spinal fluid or ciliary function (By similarity). Essential for construction of the central pair apparatus of motile cilia. NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Hedgehog signaling pathway;Pathways in cancer;Basal cell carcinoma PE1 2 +NX_Q9NRQ2 Phospholipid scramblase 4 329 37005 5.53 1 Membrane;Nucleoplasm;Nucleus NA May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system. NA Belongs to the phospholipid scramblase family. NA PE1 3 +NX_Q9NRQ5 Single-pass membrane and coiled-coil domain-containing protein 4 59 6738 10.28 1 Membrane NA NA NA Belongs to the SMCO4 family. NA PE1 11 +NX_Q9NRR1 Cytokine-like protein 1 136 15577 8.81 0 Endoplasmic reticulum;Secreted;Nucleus membrane NA NA NA NA NA PE1 4 +NX_Q9NRR2 Tryptase gamma 321 33815 6.69 1 Membrane NA NA NA Belongs to the peptidase S1 family. Tryptase subfamily. NA PE2 16 +NX_Q9NRR3 CDC42 small effector protein 2 84 9223 8.61 0 Phagocytic cup;Cell membrane;Cytoskeleton NA Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages. NA Belongs to the CDC42SE/SPEC family. NA PE1 5 +NX_Q9NRR4 Ribonuclease 3 1374 159316 8 0 Nucleolus;Nucleus NA Ribonuclease III double-stranded (ds) RNA-specific endoribonuclease that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DROSHA cleaves the 3' and 5' strands of a stem-loop in pri-miRNAs (processing center 11 bp from the dsRNA-ssRNA junction) to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs. Involved also in pre-rRNA processing. Cleaves double-strand RNA and does not cleave single-strand RNA. Involved in the formation of GW bodies. NA Belongs to the ribonuclease III family. Ribosome biogenesis in eukaryotes;MicroRNA (miRNA) biogenesis PE1 5 +NX_Q9NRR5 Ubiquilin-4 601 63853 5.14 0 Cytoplasm;Chromosome;Endoplasmic reticulum;Nucleoplasm;Autophagosome;Perinuclear region;Nucleus Amyotrophic lateral sclerosis Regulator of protein degradation that mediates the proteasomal targeting of misfolded, mislocalized or accumulated proteins (PubMed:15280365, PubMed:27113755, PubMed:29666234, PubMed:30612738). Acts by binding polyubiquitin chains of target proteins via its UBA domain and by interacting with subunits of the proteasome via its ubiquitin-like domain (PubMed:15280365, PubMed:27113755, PubMed:30612738). Key regulator of DNA repair that represses homologous recombination repair: in response to DNA damage, recruited to sites of DNA damage following phosphorylation by ATM and acts by binding and removing ubiquitinated MRE11 from damaged chromatin, leading to MRE11 degradation by the proteasome (PubMed:30612738). MRE11 degradation prevents homologous recombination repair, redirecting double-strand break repair toward non-homologous end joining (NHEJ) (PubMed:30612738). Specifically recognizes and binds mislocalized transmembrane-containing proteins and targets them to proteasomal degradation (PubMed:27113755). Collaborates with DESI1/POST in the export of ubiquitinated proteins from the nucleus to the cytoplasm (PubMed:29666234). Also plays a role in the regulation of the proteasomal degradation of non-ubiquitinated GJA1 (By similarity). Acts as an adapter protein that recruits UBQLN1 to the autophagy machinery (PubMed:23459205). Mediates the association of UBQLN1 with autophagosomes and the autophagy-related protein LC3 (MAP1LC3A/B/C) and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:23459205). Phosphorylated by ATM at Ser-318 in response to DNA damage, leading to localization in the nucleus and recruitment to sites of DNA damage.;Ubiquitinated; this does not lead to proteasomal degradation (PubMed:15280365). May undergo both 'Lys-48'- and 'Lys-63'-linked polyubiquitination (PubMed:15280365). NA Protein processing in endoplasmic reticulum PE1 1 +NX_Q9NRR6 Phosphatidylinositol polyphosphate 5-phosphatase type IV 644 70205 9.16 0 Cytoplasm;Cell membrane;Golgi stack membrane;Cilium axoneme;Ruffle Joubert syndrome 1;Mental retardation, truncal obesity, retinal dystrophy, and micropenis Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:10764818) (By similarity). Specific for lipid substrates, inactive towards water soluble inositol phosphates (PubMed:10764818). Plays an essential role in the primary cilium by controlling ciliary growth and phosphoinositide 3-kinase (PI3K) signaling and stability (By similarity). NA Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type IV family. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PIPs at the Golgi membrane;ARL13B-mediated ciliary trafficking of INPP5E PE1 9 +NX_Q9NRR8 CDC42 small effector protein 1 79 8925 10.03 0 Cell junction;Cell membrane;Cytoskeleton NA Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages. NA Belongs to the CDC42SE/SPEC family. NA PE1 1 +NX_Q9NRS4 Transmembrane protease serine 4 437 48246 5.2 1 Membrane;Nucleoplasm;Cytosol NA Probable protease. Seems to be capable of activating ENaC (By similarity). NA Belongs to the peptidase S1 family. Influenza A PE1 11 +NX_Q9NRS6 Sorting nexin-15 342 38291 5.09 0 Cytoplasm;Cell membrane;Nucleolus;Membrane;Cytoplasmic vesicle membrane;Cytoplasmic vesicle;Cytosol NA May be involved in several stages of intracellular trafficking. Overexpression of SNX15 disrupts the normal trafficking of proteins from the plasma membrane to recycling endosomes or the TGN. NA Belongs to the sorting nexin family. NA PE1 11 +NX_Q9NRU3 Metal transporter CNNM1 951 104351 5.91 4 Cytosol;Cell membrane NA Probable metal transporter. NA Belongs to the ACDP family. NA PE1 10 +NX_Q9NRV9 Heme-binding protein 1 189 21097 5.71 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle NA May bind free porphyrinogens that may be present in the cell and thus facilitate removal of these potentially toxic compound. Binds with a high affinity to one molecule of heme or porphyrins. It binds metalloporphyrins, free porphyrins and N-methylprotoporphyrin with similar affinities. NA Belongs to the HEBP family. G alpha (i) signalling events;Formyl peptide receptors bind formyl peptides and many other ligands PE1 12 +NX_Q9NRW1 Ras-related protein Rab-6B 208 23462 5.41 0 Cytoplasmic vesicle;Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus membrane NA Seems to have a role in retrograde membrane traffic at the level of the Golgi complex. May function in retrograde transport in neuronal cells. NA Belongs to the small GTPase superfamily. Rab family. COPI-independent Golgi-to-ER retrograde traffic;Retrograde transport at the Trans-Golgi-Network;RAB GEFs exchange GTP for GDP on RABs;TBC/RABGAPs;RAB geranylgeranylation PE1 3 +NX_Q9NRW3 DNA dC->dU-editing enzyme APOBEC-3C 190 22826 7.52 0 Cytoplasm;Nucleus;Cytoskeleton NA DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single-or double-stranded RNA. Exhibits antiviral activity against simian immunodeficiency virus (SIV), hepatitis B virus (HBV), herpes simplex virus 1 (HHV-1) and Epstein-Barr virus (EBV) and may inhibit the mobility of LTR and non-LTR retrotransposons. May also play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation. NA Belongs to the cytidine and deoxycytidylate deaminase family. mRNA Editing: C to U Conversion;Formation of the Editosome PE1 22 +NX_Q9NRW4 Dual specificity protein phosphatase 22 184 20910 8.28 0 Cytoplasm;Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Activates the Jnk signaling pathway. Dephosphorylates and deactivates p38 and stress-activated protein kinase/c-Jun N-terminal kinase (SAPK/JNK) (By similarity). Myristoylation regulates subcellular location, and is necessary for activation of JNK. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. MAPK signaling pathway PE1 6 +NX_Q9NRW7 Vacuolar protein sorting-associated protein 45 570 65077 8.41 0 Endosome membrane;Cytoskeleton;Golgi apparatus membrane Neutropenia, severe congenital 5, autosomal recessive May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network. NA Belongs to the STXBP/unc-18/SEC1 family. Endocytosis;Factors involved in megakaryocyte development and platelet production;Intra-Golgi traffic PE1 1 +NX_Q9NRX1 RNA-binding protein PNO1 252 27924 9.75 0 Nucleoplasm;Nucleolus NA Positively regulates dimethylation of two adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 18S rRNA (PubMed:25851604). NA Belongs to the PNO1 family. rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 2 +NX_Q9NRX2 39S ribosomal protein L17, mitochondrial 175 20050 10.12 0 Mitochondrion NA NA NA Belongs to the bacterial ribosomal protein bL17 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 11 +NX_Q9NRX3 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2 87 9966 9.94 0 NA NA NA NA Belongs to the complex I NDUFA4 subunit family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease PE1 12 +NX_Q9NRX4 14 kDa phosphohistidine phosphatase 125 13833 5.65 0 Cytoplasm;Cytosol;Nucleus NA Exhibits phosphohistidine phosphatase activity. NA Belongs to the janus family. Fructose and mannose metabolism PE1 9 +NX_Q9NRX5 Serine incorporator 1 453 50495 5.59 10 Cytosol;Endoplasmic reticulum membrane NA Enhances the incorporation of serine into phosphatidylserine and sphingolipids. NA Belongs to the TDE1 family. Serine biosynthesis PE1 6 +NX_Q9NRX6 Protein kish-B 74 8294 9.67 1 Golgi apparatus membrane NA Involved in the early part of the secretory pathway. NA Belongs to the KISH family. NA PE1 1 +NX_Q9NRY2 SOSS complex subunit C 104 11425 9.22 0 Nucleoplasm;Nucleus NA Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. The SOSS complex associates with single-stranded DNA at DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination-dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways. NA Belongs to the SOSS-C family. NA PE1 9 +NX_Q9NRY4 Rho GTPase-activating protein 35 1499 170514 6.2 0 Cytoplasm;Cell membrane;Cilium basal body;Cytosol;Nucleus NA Rho GTPase-activating protein (GAP) (PubMed:19673492, PubMed:28894085). Binds several acidic phospholipids which inhibits the Rho GAP activity to promote the Rac GAP activity (PubMed:19673492). This binding is inhibited by phosphorylation by PRKCA (PubMed:19673492). Involved in cell differentiation as well as cell adhesion and migration, plays an important role in retinal tissue morphogenesis, neural tube fusion, midline fusion of the cerebral hemispheres and mammary gland branching morphogenesis (By similarity). Transduces signals from p21-ras to the nucleus, acting via the ras GTPase-activating protein (GAP) (By similarity). Transduces SRC-dependent signals from cell-surface adhesion molecules, such as laminin, to promote neurite outgrowth. Regulates axon outgrowth, guidance and fasciculation (By similarity). Modulates Rho GTPase-dependent F-actin polymerization, organization and assembly, is involved in polarized cell migration and in the positive regulation of ciliogenesis and cilia elongation (By similarity). During mammary gland development, is required in both the epithelial and stromal compartments for ductal outgrowth (By similarity). Represses transcription of the glucocorticoid receptor by binding to the cis-acting regulatory sequence 5'-GAGAAAAGAAACTGGAGAAACTC-3'; this function is however unclear and would need additional experimental evidences (PubMed:1894621). Phosphorylation of Tyr-1105 by PTK6 promotes the association with RASA1, inactivating RHOA while activating RAS. Phosphorylation at Tyr-308 by PDGFRA inhibits binding to GTF2I (PubMed:18829532, PubMed:19393245). Phosphorylated by PRKCA at Ser-1221 and Thr-1226, induces relocalization from the cytoplasm to regions of plasma membrane ruffling and prevents the binding and substrate specificity regulation by phospholipids (PubMed:19673492). In brain, phosphorylated by FYN and SRC (By similarity). During focal adhesion formation, phosphorylated by MAPK1 and MAPK3 at the C-terminal region, probably at Ser-1451, Ser-1476, Thr-1480 and Ser-1483. Phosphorylation by MAPK1 and MAPK3 inhibits GAP function and localizes ARGHAP35 away from newly forming focal adhesions and stress fibers in cells spreading on fibronectin (By similarity). Phosphorylation at Ser-1476 and Thr-1480 by GSK3B requires priming by MAPK and inhibits RhoGAP activity and modulates polarized cell migration (By similarity). NA Focal adhesion;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Rho GTPase cycle;Sema4D mediated inhibition of cell attachment and migration;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases PE1 19 +NX_Q9NRY5 Protein FAM114A2 505 55468 4.85 0 Cytoplasmic vesicle NA NA NA Belongs to the FAM114 family. Signaling by BRAF and RAF fusions PE1 5 +NX_Q9NRY6 Phospholipid scramblase 3 295 31648 6.22 1 Mitochondrion membrane;Mitochondrion NA May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system. Seems to play a role in apoptosis, through translocation of cardiolipin from the inner to the outer mitochondrial membrane which promotes BID recruitment and enhances tBid-induced mitochondrial damages. Phosphorylation at Thr-21 by PKC/PRKCD upon apoptotic stimuli enhances flip-flop activity.;PLSCR3 is phosphorylated by PRKCD (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the phospholipid scramblase family. NA PE1 17 +NX_Q9NRY7 Phospholipid scramblase 2 297 33504 6.69 1 Membrane;Nucleus NA Has no prospholipid scramblase activity, due to the lack of a N-terminal proline-rich domain.;May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system. NA Belongs to the phospholipid scramblase family. NA PE1 3 +NX_Q9NRZ5 1-acyl-sn-glycerol-3-phosphate acyltransferase delta 378 44021 8.95 4 Golgi apparatus;Endoplasmic reticulum membrane;Nucleolus;Cytoplasmic vesicle NA Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (By similarity). Exhibits high acyl-CoA specificity for polyunsaturated fatty acyl-CoA, especially docosahexaenoyl-CoA (22:6-CoA, DHA-CoA) (By similarity). NA Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3.;Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PA PE1 6 +NX_Q9NRZ7 1-acyl-sn-glycerol-3-phosphate acyltransferase gamma 376 43381 8.96 2 Endoplasmic reticulum membrane;Nucleus envelope NA Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (PubMed:21173190). Acts on LPA containing saturated or unsaturated fatty acids C16:0-C20:4 at the sn-1 position using C18:1, C20:4 or C18:2-CoA as the acyl donor (PubMed:21173190). Also acts on lysophosphatidylcholine, lysophosphatidylinositol and lysophosphatidylserine using C18:1 or C20:4-CoA (PubMed:21173190). Has a preference for arachidonoyl-CoA as a donor (By similarity). Has also a modest lysophosphatidylinositol acyltransferase (LPIAT) activity, converts lysophosphatidylinositol (LPI) into phosphatidylinositol (By similarity). NA Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3.;Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PA;COPI-independent Golgi-to-ER retrograde traffic PE1 21 +NX_Q9NRZ9 Lymphoid-specific helicase 838 97074 8.07 0 Golgi apparatus;Cytoplasmic vesicle;Nucleoplasm;Nucleus Immunodeficiency-centromeric instability-facial anomalies syndrome 4 Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin, implying a functional role in the regulation of transcription and mitosis (By similarity). NA Belongs to the SNF2/RAD54 helicase family. NA PE1 10 +NX_Q9NS00 Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 363 42203 6.17 1 Membrane;Cytosol;Nucleus NA Glycosyltransferase that generates the core 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Plays a central role in many processes, such as angiogenesis, thrombopoiesis and kidney homeostasis development. NA Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins;Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) PE1 7 +NX_Q9NS15 Latent-transforming growth factor beta-binding protein 3 1303 139359 5.71 0 Nucleoplasm;Extracellular matrix;Secreted Dental anomalies and short stature;Geleophysic dysplasia 3 Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta. Two intrachain disulfide bonds from the TB3 domain are rearranged upon TGFB1 binding, and form interchain bonds with TGFB1 propeptide, anchoring it to the extracellular matrix.;Contains hydroxylated asparagine residues. Belongs to the LTBP family. Molecules associated with elastic fibres PE1 11 +NX_Q9NS18 Glutaredoxin-2, mitochondrial 164 18052 9.25 0 Cytoplasmic vesicle;Nucleoplasm;Mitochondrion;Nucleus NA Glutathione-dependent oxidoreductase that facilitates the maintenance of mitochondrial redox homeostasis upon induction of apoptosis by oxidative stress. Involved in response to hydrogen peroxide and regulation of apoptosis caused by oxidative stress. Acts as a very efficient catalyst of monothiol reactions because of its high affinity for protein glutathione-mixed disulfides. Can receive electrons not only from glutathione (GSH), but also from thioredoxin reductase supporting both monothiol and dithiol reactions. Efficiently catalyzes both glutathionylation and deglutathionylation of mitochondrial complex I, which in turn regulates the superoxide production by the complex. Overexpression decreases the susceptibility to apoptosis and prevents loss of cardiolipin and cytochrome c release. NA Belongs to the glutaredoxin family. NA PE1 1 +NX_Q9NS23 Ras association domain-containing protein 1 344 39219 9.2 0 Spindle pole;Centrosome;Spindle;Nucleus;Cytoskeleton NA Disrupts interactions among MDM2, DAXX and USP7, thus contributing to the efficient activation of TP53 by promoting MDM2 self-ubiquitination in cell-cycle checkpoint control in response to DNA damage.;Interacts with CDC20, an activator of the anaphase-promoting complex, APC, resulting in the inhibition of APC activity and mitotic progression. Inhibits proliferation by negatively regulating cell cycle progression at the level of G1/S-phase transition by regulating accumulation of cyclin D1 protein.;Has been shown not to perform these roles, no function has been identified for this isoform.;Potential tumor suppressor. Required for death receptor-dependent apoptosis. Mediates activation of STK3/MST2 and STK4/MST1 during Fas-induced apoptosis by preventing their dephosphorylation. When associated with MOAP1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation. NA NA Pathways in cancer;Bladder cancer;Non-small cell lung cancer PE1 3 +NX_Q9NS25 Sperm protein associated with the nucleus on the X chromosome B1 103 11840 5.92 0 Cytoplasm;Nucleus NA NA NA Belongs to the SPAN-X family. NA PE1 X +NX_Q9NS26 Sperm protein associated with the nucleus on the X chromosome A 97 11038 5.05 0 Cytoplasm;Nucleus NA NA NA Belongs to the SPAN-X family. NA PE1 X +NX_Q9NS28 Regulator of G-protein signaling 18 235 27582 7.73 0 Golgi apparatus;Cytoplasm NA Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(i) alpha-1, G(i) alpha-2, G(i) alpha-3 and G(q) alpha. NA NA G alpha (i) signalling events;G alpha (q) signalling events PE1 1 +NX_Q9NS37 CREB/ATF bZIP transcription factor 354 37134 5.12 0 Nucleoplasm;Mitochondrion;Nucleus NA Strongly activates transcription when bound to HCFC1. Suppresses the expression of HSV proteins in cells infected with the virus in a HCFC1-dependent manner. Also suppresses the HCFC1-dependent transcriptional activation by CREB3 and reduces the amount of CREB3 in the cell. Able to down-regulate expression of some cellular genes in CREBZF-expressing cells. NA Belongs to the bZIP family. ATF subfamily. NA PE1 11 +NX_Q9NS39 Double-stranded RNA-specific editase B2 739 80621 10.19 0 Nucleus NA Lacks editing activity. It prevents the binding of other ADAR enzymes to targets in vitro, and decreases the efficiency of these enzymes. Capable of binding to dsRNA but also to ssRNA. NA NA NA PE1 10 +NX_Q9NS40 Potassium voltage-gated channel subfamily H member 7 1196 135000 7.57 6 Membrane NA Pore-forming (alpha) subunit of voltage-gated potassium channel. Channel properties may be modulated by cAMP and subunit assembly. NA Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.3/KCNH7 sub-subfamily. Voltage gated Potassium channels PE1 2 +NX_Q9NS56 E3 ubiquitin-protein ligase Topors 1045 119198 9.56 0 Nucleoplasm;PML body;Nucleus Retinitis pigmentosa 31 Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability through ubiquitin-dependent degradation. May regulate chromatin modification through sumoylation of several chromatin modification-associated proteins. May be involved in DNA damage-induced cell death through IKBKE sumoylation. Sumoylated.;Phosphorylation at Ser-98 regulates the E3 ubiquitin-protein ligase activity but not the SUMO1-protein ligase activity. Phosphorylation at Ser-718 increases the E3 ubiquitin-protein ligase activity versus the SUMO1-protein ligase activity resulting in increased p53/TP53 ubiquitination and degradation. NA SUMOylation of SUMOylation proteins;SUMOylation of transcription cofactors;SUMOylation of immune response proteins PE1 9 +NX_Q9NS61 Kv channel-interacting protein 2 270 30907 4.97 0 Cytoplasm;Nucleus;Cell membrane NA Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND2/Kv4.2 and KCND3/Kv4.3 currents. Involved in KCND2 and KCND3 trafficking to the cell surface. May be required for the expression of I(To) currents in the heart (By similarity). Palmitoylated. Palmitoylation enhances association with the plasma membrane. Belongs to the recoverin family. Phase 1 - inactivation of fast Na+ channels PE1 10 +NX_Q9NS62 Thrombospondin type-1 domain-containing protein 1 852 94584 8.33 1 Membrane;Cytosol;Secreted NA NA NA NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 13 +NX_Q9NS64 Protein reprimo 109 11774 4.79 1 Membrane;Cytoplasm NA May be involved in the regulation of p53-dependent G2 arrest of the cell cycle. Seems to induce cell cycle arrest by inhibiting CDK1 activity and nuclear translocation of the CDC2 cyclin B1 complex (By similarity). NA Belongs to the reprimo family. p53 signaling pathway PE1 2 +NX_Q9NS66 Probable G-protein coupled receptor 173 373 41481 9.36 7 Cytosol;Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 X +NX_Q9NS67 Probable G-protein coupled receptor 27 375 39818 9.3 7 Nucleoplasm;Cytosol;Cytoskeleton;Cell membrane NA Orphan receptor. Possible candidate for amine-like G-protein coupled receptor. NA Belongs to the G-protein coupled receptor 1 family. G alpha (s) signalling events PE2 3 +NX_Q9NS68 Tumor necrosis factor receptor superfamily member 19 423 46015 5.28 1 Membrane;Nucleoplasm;Mitochondrion NA Can mediate activation of JNK and NF-kappa-B. May promote caspase-independent cell death. NA NA Cytokine-cytokine receptor interaction PE1 13 +NX_Q9NS69 Mitochondrial import receptor subunit TOM22 homolog 142 15522 4.27 1 Mitochondrion outer membrane;Mitochondrion NA Central receptor component of the translocase of the outer membrane of mitochondria (TOM complex) responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with the peripheral receptor TOM20 functions as the transit peptide receptor and facilitates the movement of preproteins into the translocation pore (PubMed:10982837). Required for the translocation across the mitochondrial outer membrane of cytochrome P450 monooxygenases (By similarity). NA Belongs to the Tom22 family. Mitochondrial protein import;Pink/Parkin Mediated Mitophagy PE1 22 +NX_Q9NS71 Gastrokine-1 199 21999 5.9 0 Secreted NA Has mitogenic activity and may be involved in maintaining the integrity of the gastric mucosal epithelium. NA Belongs to the gastrokine family. NA PE1 2 +NX_Q9NS73 MAP3K12-binding inhibitory protein 1 344 39281 6.78 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Inhibits the MAP3K12 activity to induce the activation of the JNK/SAPK pathway. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. NA NA HATs acetylate histones PE1 14 +NX_Q9NS75 Cysteinyl leukotriene receptor 2 346 39635 9.63 7 Cell membrane NA Receptor for cysteinyl leukotrienes. The response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. Stimulation by BAY u9773, a partial agonist, induces specific contractions of pulmonary veins and might also have an indirect role in the relaxation of the pulmonary vascular endothelium. The rank order of affinities for the leukotrienes is LTC4 = LTD4 >> LTE4. NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;G alpha (q) signalling events;Leukotriene receptors PE1 13 +NX_Q9NS82 Asc-type amino acid transporter 1 523 56798 8.51 9 Membrane;Nucleoplasm;Nucleolus NA Sodium-independent, high affinity transport of small neutral D- and L-amino acids. May play a role in the modulation of glutamatergic transmission through mobilization of D-serine at the glutamatergic synapse. NA Belongs to the amino acid-polyamine-organocation (APC) superfamily. Amino acid transport across the plasma membrane;Basigin interactions PE1 19 +NX_Q9NS84 Carbohydrate sulfotransferase 7 486 54266 9.72 1 Nucleoplasm;Golgi apparatus membrane;Cytoplasmic vesicle NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues. Preferentially acts on mannose-linked GlcNAc. Also able to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Also acts on core 2 mucin-type oligosaccharide and N-acetyllactosamine oligomer with a lower efficiency. Has weak or no activity toward keratan sulfate and oligosaccharides containing the Galbeta1-4GlcNAc. Catalyzes 6-O-sulfation of beta-benzyl GlcNAc but not alpha- or beta-benzyl GalNAc. NA Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily. Glycosaminoglycan biosynthesis - chondroitin sulfate;Chondroitin sulfate biosynthesis PE1 X +NX_Q9NS85 Carbonic anhydrase-related protein 10 328 37563 8.22 0 Cytoplasmic vesicle NA Does not have a catalytic activity. NA Belongs to the alpha-carbonic anhydrase family. NA PE1 17 +NX_Q9NS86 LanC-like protein 2 450 50854 7.18 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Necessary for abscisic acid (ABA) binding on the cell membrane and activation of the ABA signaling pathway in granulocytes. Myristoylated. Essential for membrane association. Belongs to the LanC-like protein family. NA PE1 7 +NX_Q9NS87 Kinesin-like protein KIF15 1388 160160 5.75 0 Cytoplasm;Spindle NA Plus-end directed kinesin-like motor enzyme involved in mitotic spindle assembly. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KLP2 subfamily. MHC class II antigen presentation;Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 3 +NX_Q9NS91 E3 ubiquitin-protein ligase RAD18 495 56223 7.51 0 Nucleoplasm;Centrosome;Nucleus NA E3 ubiquitin-protein ligase involved in postreplication repair of UV-damaged DNA. Postreplication repair functions in gap-filling of a daughter strand on replication of damaged DNA. Associates to the E2 ubiquitin conjugating enzyme UBE2B to form the UBE2B-RAD18 ubiquitin ligase complex involved in mono-ubiquitination of DNA-associated PCNA on 'Lys-164'. Has ssDNA binding activity. NA Belongs to the RAD18 family. Protein modification; protein ubiquitination.;Recognition of DNA damage by PCNA-containing replication complex;E3 ubiquitin ligases ubiquitinate target proteins PE1 3 +NX_Q9NS93 Transmembrane 7 superfamily member 3 570 64166 6.56 7 Nucleoplasm;Cytosol;Cell membrane NA Involved in the inhibition of cytokine-induced death of pancreatic beta cells. Involved in the promotion of insulin secretion from pancreatic beta cells (PubMed:21853325). Is a downstream transcriptional target of p53/TP53, and acts as a pro-survival homeostatic factor that attenuates the development of cellular stress. Maintains protein homeostasis and promotes cell survival through attenuation of endoplasmic reticulum (ER) stress and the subsequent induction of unfolded protein response (UPR) (PubMed:27740623). NA NA NA PE1 12 +NX_Q9NS98 Semaphorin-3G 782 86701 7.97 0 Secreted NA Has chemorepulsive activities for sympathetic axons. Ligand of NRP2 (By similarity). NA Belongs to the semaphorin family. Axon guidance PE1 3 +NX_Q9NSA0 Solute carrier family 22 member 11 550 59972 8.96 12 Cell membrane NA Mediates saturable uptake of estrone sulfate, dehydroepiandrosterone sulfate and related compounds. N-glycosylated. Contains several complex-type N-glycans. Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. Organic anion transport PE1 11 +NX_Q9NSA1 Fibroblast growth factor 21 209 22300 5.01 0 Secreted NA Stimulates glucose uptake in differentiated adipocytes via the induction of glucose transporter SLC2A1/GLUT1 expression (but not SLC2A4/GLUT4 expression). Activity requires the presence of KLB. NA Belongs to the heparin-binding growth factors family. MAPK signaling pathway;Regulation of actin cytoskeleton;Pathways in cancer;Melanoma;Cellular hexose transport;Assembly of active LPL and LIPC lipase complexes PE1 19 +NX_Q9NSA2 Potassium voltage-gated channel subfamily D member 1 647 71330 8.79 6 Membrane;Nucleoplasm;Dendrite NA Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits. NA Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.1/KCND1 sub-subfamily. Voltage gated Potassium channels;Phase 1 - inactivation of fast Na+ channels PE1 X +NX_Q9NSA3 Beta-catenin-interacting protein 1 81 9170 5.33 0 Cytoplasm;Mitochondrion;Cell membrane;Cell junction;Nucleus NA Prevents the interaction between CTNNB1 and TCF family members, and acts as negative regulator of the Wnt signaling pathway. NA Belongs to the CTNNBIP1 family. Wnt signaling pathway;Deactivation of the beta-catenin transactivating complex PE1 1 +NX_Q9NSB2 Keratin, type II cuticular Hb4 600 64842 7.74 0 NA NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_Q9NSB4 Keratin, type II cuticular Hb2 513 56653 6.4 0 NA NA NA NA Belongs to the intermediate filament family. Formation of the cornified envelope;Keratinization PE1 12 +NX_Q9NSB8 Homer protein homolog 2 354 40627 6.03 0 Cytoplasm;Postsynaptic density;Synapse;Stereocilium;Cytosol Deafness, autosomal dominant, 68 Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses (PubMed:9808459). Required for normal hearing (PubMed:25816005). Negatively regulates T cell activation by inhibiting the calcineurin-NFAT pathway. Acts by competing with calcineurin/PPP3CA for NFAT protein binding, hence preventing NFAT activation by PPP3CA (PubMed:18218901). NA Belongs to the Homer family. Glutamatergic synapse;Neurexins and neuroligins PE1 15 +NX_Q9NSC2 Sal-like protein 1 1324 140405 6.57 0 Nucleus speckle;Nucleolus;Nucleoplasm;Cytosol;Nucleus Townes-Brocks syndrome 1 Transcriptional repressor involved in organogenesis. NA Belongs to the sal C2H2-type zinc-finger protein family. POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation PE1 16 +NX_Q9NSC5 Homer protein homolog 3 361 39836 5.39 0 Cytoplasm;Cell membrane;Postsynaptic density;Synapse;Cytosol NA Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses. Negatively regulates T cell activation by inhibiting the calcineurin-NFAT pathway. Acts by competing with calcineurin/PPP3CA for NFAT protein binding, hence preventing NFAT activation by PPP3CA (PubMed:18218901). NA Belongs to the Homer family. Glutamatergic synapse;Neurexins and neuroligins PE1 19 +NX_Q9NSC7 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 600 68564 9.93 1 Golgi apparatus;Nucleoplasm;Golgi apparatus membrane NA NA NA Belongs to the glycosyltransferase 29 family. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;Sialic acid metabolism PE1 17 +NX_Q9NSD4 Zinc finger protein 275 429 48443 9.33 0 Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 X +NX_Q9NSD5 Sodium- and chloride-dependent GABA transporter 2 602 68009 7.36 12 Mitochondrion;Cell membrane;Nucleolus;Nucleoplasm;Cytosol NA Sodium-dependent GABA and taurine transporter. In presynaptic terminals, regulates GABA signaling termination through GABA uptake. May also be involved in beta-alanine transport. NA Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A13 subfamily. GABAergic synapse;Na+/Cl- dependent neurotransmitter transporters;Reuptake of GABA PE1 12 +NX_Q9NSD7 Relaxin-3 receptor 1 469 51124 9.07 7 Cell membrane NA Receptor for RNL3/relaxin-3. Binding of the ligand inhibit cAMP accumulation. NA Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;Relaxin receptors PE1 5 +NX_Q9NSD9 Phenylalanine--tRNA ligase beta subunit 589 66116 6.39 0 Nucleoplasm;Cytosol;Cytoplasm Rajab interstitial lung disease with brain calcifications NA NA Belongs to the phenylalanyl-tRNA synthetase beta subunit family. Type 2 subfamily. Aminoacyl-tRNA biosynthesis;Cytosolic tRNA aminoacylation PE1 2 +NX_Q9NSE2 Cytokine-inducible SH2-containing protein 258 28663 6.52 0 Cytoskeleton NA SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. CIS is involved in the negative regulation of cytokines that signal through the JAK-STAT5 pathway such as erythropoietin, prolactin and interleukin 3 (IL3) receptor. Inhibits STAT5 trans-activation by suppressing its tyrosine phosphorylation. May be a substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity). Association with EPOR may target the protein for proteolysis by the ubiquitin-dependent proteasome pathway. CIS is mainly monubiquitinated (37 kDa form) but may also exist in a polyubiquitinated form (45 kDa). NA Protein modification; protein ubiquitination.;Jak-STAT signaling pathway;Interleukin-7 signaling;Growth hormone receptor signaling;Neddylation PE1 3 +NX_Q9NSE4 Isoleucine--tRNA ligase, mitochondrial 1012 113792 6.78 0 Mitochondrion matrix;Mitochondrion Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NA NA Belongs to the class-I aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation PE1 1 +NX_Q9NSG2 Uncharacterized protein C1orf112 853 96554 5.64 0 Mitochondrion NA NA NA NA NA PE1 1 +NX_Q9NSI2 Protein FAM207A 230 25456 11.07 0 Golgi apparatus;Cytoplasmic vesicle NA NA NA Belongs to the FAM207 family. NA PE1 21 +NX_Q9NSI5 Immunoglobulin superfamily member 5 407 44593 8.14 1 Apical cell membrane;Focal adhesion;Tight junction NA Provides, together with MAGI1, an adhesion machinery at tight junctions, which may regulate the permeability of kidney glomerulus and small intestinal epithelial cells. Mediates calcium-independent homophilic cell adhesion. In testis, it may function as a cell adhesion molecule rather than a tight-junction protein. It may participate in the adhesion between spermatogonia-spermatogonia, spermatogonia-Sertoli cells, and Sertoli cells-Sertoli cells (By similarity). NA Belongs to the immunoglobulin superfamily. Tight junction;Epithelial cell signaling in Helicobacter pylori infection PE2 21 +NX_Q9NSI6 Bromodomain and WD repeat-containing protein 1 2320 262936 8.73 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA May be a transcriptional activator. May be involved in chromatin remodeling (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. NA NA Interleukin-7 signaling;Chromatin modifying enzymes PE1 21 +NX_Q9NSI8 SAM domain-containing protein SAMSN-1 373 41708 5.28 0 Cytoplasm;Cell membrane;Nucleoplasm;Ruffle;Nucleus NA Negative regulator of B-cell activation. Down-regulates cell proliferation (in vitro). Promotes RAC1-dependent membrane ruffle formation and reorganization of the actin cytoskeleton. Regulates cell spreading and cell polarization. Stimulates HDAC1 activity. Regulates LYN activity by modulating its tyrosine phosphorylation (By similarity). NA NA NA PE1 21 +NX_Q9NSJ1 Putative zinc finger protein 355P 428 49689 8.9 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE5 21 +NX_Q9NSK0 Kinesin light chain 4 619 68640 5.82 0 Cytosol;Mitochondrion;Cytoskeleton NA Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity). NA Belongs to the kinesin light chain family. Salmonella infection;MHC class II antigen presentation;Kinesins;RHO GTPases activate KTN1;COPI-dependent Golgi-to-ER retrograde traffic PE1 6 +NX_Q9NSK7 Protein C19orf12 152 16286 6.83 1 Mitochondrion membrane;Endoplasmic reticulum;Cytosol;Mitochondrion Neurodegeneration with brain iron accumulation 4;Spastic paraplegia 43, autosomal recessive NA NA NA NA PE1 19 +NX_Q9NSN8 Gamma-1-syntrophin 517 57969 6.24 0 Nucleus;Cytoskeleton NA Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity). May participate in regulating the subcellular location of diacylglycerol kinase-zeta to ensure that diacylglycerol is rapidly inactivated following receptor activation. NA Belongs to the syntrophin family. NA PE1 8 +NX_Q9NSP4 Centromere protein M 180 19737 6.7 0 Nucleus;Cytosol;Cytoplasm;Kinetochore NA Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. NA NA Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Deposition of new CENPA-containing nucleosomes at the centromere;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 22 +NX_Q9NSQ0 Putative ribosomal RNA-processing protein 7 homolog B 103 12575 9.73 0 NA NA NA NA Belongs to the RRP7 family. NA PE5 22 +NX_Q9NST1 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 481 52865 6.27 1 Mitochondrion;Lipid droplet;Nucleolus;Membrane;Cytosol Non-alcoholic fatty liver disease 1 Specifically catalyzes coenzyme A (CoA)-dependent acylation of 1-acyl-sn-glycerol 3-phosphate (2-lysophosphatidic acid/LPA) to generate phosphatidic acid (PA), an important metabolic intermediate and precursor for both triglycerides and glycerophospholipids. Does not esterify other lysophospholipids. Acyl donors are long chain (at least C16) fatty acyl-CoAs: arachidonoyl-CoA, linoleoyl-CoA, oleoyl-CoA and at a lesser extent palmitoyl-CoA (PubMed:22560221). Additionally possesses low triacylglycerol lipase and CoA-independent acylglycerol transacylase activities and thus may play a role in acyl-chain remodeling of triglycerides (PubMed:15364929, PubMed:20034933, PubMed:22560221). NA NA Phospholipid metabolism.;Glycerolipid metabolism.;Glycerolipid metabolism;Metabolic pathways;Acyl chain remodeling of DAG and TAG PE1 22 +NX_Q9NSU2 Three-prime repair exonuclease 1 314 33212 8.12 0 Cytosol;Endoplasmic reticulum membrane;Nucleus Systemic lupus erythematosus;Aicardi-Goutieres syndrome 1;Vasculopathy, retinal, with cerebral leukodystrophy;Chilblain lupus 1 Major cellular 3'-to-5' DNA exonuclease which digests single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA) with mismatched 3' termini. Prevents cell-intrinsic initiation of autoimmunity. Acts by metabolizing DNA fragments from endogenous retroelements, including L1, LTR and SINE elements. Unless degraded, these DNA fragments accumulate in the cytosol and activate the IFN-stimulatory DNA (ISD) response and innate immune signaling. Prevents chronic ATM-dependent checkpoint activation, by processing ssDNA polynucleotide species arising from the processing of aberrant DNA replication intermediates. Inefficiently degrades oxidized DNA, such as that generated upon antimicrobial reactive oxygen production or upon absorption of UV light. During GZMA-mediated cell death, contributes to DNA damage in concert with NME1. NME1 nicks one strand of DNA and TREX1 removes bases from the free 3' end to enhance DNA damage and prevent DNA end reannealing and rapid repair. Ubiquitinated, but not targeted to proteasomal degradation. Ubiquitination may be important for interaction with UBQLN1. Belongs to the exonuclease superfamily. TREX family. Cytosolic DNA-sensing pathway;IRF3-mediated induction of type I IFN;Regulation by TREX1 PE1 3 +NX_Q9NSV4 Protein diaphanous homolog 3 1193 136926 6.64 0 Cytoplasm;Nucleus;Cytoskeleton;Cell membrane Auditory neuropathy, autosomal dominant, 1 Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Required for cytokinesis, stress fiber formation and transcriptional activation of the serum response factor. Binds to GTP-bound form of Rho and to profilin: acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity. Ubiquitinated. Belongs to the formin homology family. Diaphanous subfamily. Regulation of actin cytoskeleton;RHO GTPases Activate Formins PE1 13 +NX_Q9NSY0 Nuclear receptor-binding protein 2 501 57803 6.05 0 Cytoplasm;Cytosol NA May regulate apoptosis of neural progenitor cells during their differentiation. NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. NA PE1 8 +NX_Q9NSY1 BMP-2-inducible protein kinase 1161 129172 6.05 0 Nucleus speckle;Nucleus NA May be involved in osteoblast differentiation. Autophosphorylated. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. NA PE1 4 +NX_Q9NSY2 StAR-related lipid transfer protein 5 213 23794 6.22 0 Cytoplasmic vesicle;Cytosol NA May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other sterols (By similarity). NA NA Recycling of bile acids and salts PE1 15 +NX_Q9NT22 EMILIN-3 766 82647 7.84 0 Extracellular matrix NA NA NA NA Molecules associated with elastic fibres PE1 20 +NX_Q9NT62 Ubiquitin-like-conjugating enzyme ATG3 314 35864 4.66 0 Cytoplasm;Cytosol;Cell membrane NA E2 conjugating enzyme required for the cytoplasm to vacuole transport (Cvt), autophagy, and mitochondrial homeostasis. Responsible for the E2-like covalent binding of phosphatidylethanolamine to the C-terminal Gly of ATG8-like proteins (GABARAP, GABARAPL1, GABARAPL2 or MAP1LC3A). The ATG12-ATG5 conjugate plays a role of an E3 and promotes the transfer of ATG8-like proteins from ATG3 to phosphatidylethanolamine (PE). This step is required for the membrane association of ATG8-like proteins. The formation of the ATG8-phosphatidylethanolamine conjugates is essential for autophagy and for the cytoplasm to vacuole transport (Cvt). Preferred substrate is MAP1LC3A. Also acts as an autocatalytic E2-like enzyme, catalyzing the conjugation of ATG12 to itself, ATG12 conjugation to ATG3 playing a role in mitochondrial homeostasis but not in autophagy. ATG7 (E1-like enzyme) facilitates this reaction by forming an E1-E2 complex with ATG3. Promotes primary ciliogenesis by removing OFD1 from centriolar satellites via the autophagic pathway. Conjugated to ATG12 at Lys-243. ATG12-conjugation plays a role in regulation of mitochondrial homeostasis and cell death, while it is not involved in PE-conjugation to ATG8-like proteins and autophagy.;Cleaved by CASP8 upon death ligand binding such as tumor necrosis factor-alpha. CASP8 cleavage blocks survival-related autophagy and favors apoptosis. Belongs to the ATG3 family. Regulation of autophagy;Macroautophagy PE1 3 +NX_Q9NT68 Teneurin-2 2774 307787 6.23 1 Golgi apparatus;Dendritic spine;Cell membrane;Postsynaptic cell membrane;Synaptosome;Growth cone;Nucleolus;Endoplasmic reticulum;Filopodium;Synapse;PML body NA Acts as a ligand of the ADGRL1 receptor. Mediates axon guidance and heterophilic cell-cell adhesion.;Ten-2 intracellular domain: Induces gene transcription inhibition.;Involved in neural development, regulating the establishment of proper connectivity within the nervous system. Promotes the formation of filopodia and enlarged growth cone in neuronal cells. Induces homophilic cell-cell adhesion (By similarity). May function as a cellular signal transducer. Ten-2, soluble form: Derives from the membrane form by proteolytic processing.;Ten-2 intracellular domain: Derives from the plasma membrane form by proteolytic cleavage and translocates to the nucleus. Homophilic binding of the C-terminal extracellular domain stimulates its proteolytic cleavage and release in the cytoplasmic. Is subjected to rapid degradation by the proteasome pathway (By similarity). Belongs to the tenascin family. Teneurin subfamily. NA PE1 5 +NX_Q9NT99 Leucine-rich repeat-containing protein 4B 713 76434 6.8 1 Membrane;Presynaptic cell membrane NA Synaptic adhesion protein. Regulates the formation of excitatory synapses. The trans-synaptic adhesion between LRRC4B and PTPRF regulates the formation of excitatory synapses in a bidirectional manner (By similarity). N-glycosylated. O-glycosylated; contains sialic acid. NA Receptor-type tyrosine-protein phosphatases PE1 19 +NX_Q9NTG1 Polycystic kidney disease and receptor for egg jelly-related protein 2253 255449 9.26 11 Membrane NA May have a central role in fertilization. May generate a Ca(2+) transporting channel directly involved in initiating the acrosome reaction of the sperm. NA Belongs to the polycystin family. NA PE2 22 +NX_Q9NTG7 NAD-dependent protein deacetylase sirtuin-3, mitochondrial 399 43573 8.98 0 Mitochondrion matrix NA NAD-dependent protein deacetylase (PubMed:12186850, PubMed:12374852, PubMed:16788062, PubMed:18680753, PubMed:18794531, PubMed:23283301, PubMed:24121500, PubMed:24252090, PubMed:19535340). Activates or deactivates mitochondrial target proteins by deacetylating key lysine residues (PubMed:12186850, PubMed:12374852, PubMed:16788062, PubMed:18680753, PubMed:18794531, PubMed:23283301, PubMed:24121500, PubMed:24252090). Known targets include ACSS1, IDH, GDH, SOD2, PDHA1, LCAD, SDHA and the ATP synthase subunit ATP5PO (PubMed:16788062, PubMed:18680753, PubMed:24121500, PubMed:24252090, PubMed:19535340). Contributes to the regulation of the cellular energy metabolism (PubMed:24252090). Important for regulating tissue-specific ATP levels (PubMed:18794531). In response to metabolic stress, deacetylates transcription factor FOXO3 and recruits FOXO3 and mitochondrial RNA polymerase POLRMT to mtDNA to promote mtDNA transcription (PubMed:23283301). Acts as a regulator of ceramide metabolism by mediating deacetylation of ceramide synthases CERS1, CERS2 and CERS6, thereby increasing their activity and promoting mitochondrial ceramide accumulation (By similarity). Processed by mitochondrial processing peptidase (MPP) to give a 28 kDa product. Such processing is probably essential for its enzymatic activity. Belongs to the sirtuin family. Class I subfamily. Transcriptional activation of mitochondrial biogenesis;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes;Regulation of FOXO transcriptional activity by acetylation PE1 11 +NX_Q9NTI2 Phospholipid-transporting ATPase IB 1188 133599 8.41 10 Golgi apparatus;Cell membrane;Photoreceptor outer segment;Membrane;Nucleoplasm;Endosome Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. Reconstituted to liposomes, the ATP8A2:TMEM30A flippase complex predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). Proposed to function in the generation and maintenance of phospholipid asymmetry in photoreceptor disk membranes and neuronal axon membranes. May be involved in vesicle trafficking in neuronal cells. Involved in regulation of neurite outgrowth; acting in synergy with TMEM30A. Required for normal visual and auditory function; involved in photoreceptor and inner ear spiral ganglion cell survival. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. Ion transport by P-type ATPases PE1 13 +NX_Q9NTI5 Sister chromatid cohesion protein PDS5 homolog B 1447 164667 8.67 0 Nucleoplasm;Nucleus NA Regulator of sister chromatid cohesion in mitosis which may stabilize cohesin complex association with chromatin. May couple sister chromatid cohesion during mitosis to DNA replication. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. Plays a role in androgen-induced proliferative arrest in prostate cells. NA Belongs to the PDS5 family. Separation of Sister Chromatids;Establishment of Sister Chromatid Cohesion;Cohesin Loading onto Chromatin;Resolution of Sister Chromatid Cohesion PE1 13 +NX_Q9NTI7 PAK4-inhibitor INKA2 297 32759 8.92 0 Nucleoplasm;Nucleus NA Inhibitor of the serine/threonine-protein kinase PAK4. Acts by binding PAK4 in a substrate-like manner, inhibiting the protein kinase activity. NA Belongs to the INKA family. NA PE1 1 +NX_Q9NTJ3 Structural maintenance of chromosomes protein 4 1288 147182 6.37 0 Cytoplasm;Nucleus speckle;Chromosome;Cytosol;Nucleus NA Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. NA Belongs to the SMC family. SMC4 subfamily. Condensation of Prophase Chromosomes;Condensation of Prometaphase Chromosomes PE1 3 +NX_Q9NTJ4 Alpha-mannosidase 2C1 1040 115835 6.1 0 Cytoplasm;Nucleoplasm NA Cleaves alpha 1,2-, alpha 1,3-, and alpha 1,6-linked mannose residues from glycoproteins. Involved in the degradation of free oligosaccharides in the cytoplasm. NA Belongs to the glycosyl hydrolase 38 family. Other glycan degradation;Lysosomal oligosaccharide catabolism PE1 15 +NX_Q9NTJ5 Phosphatidylinositide phosphatase SAC1 587 66967 6.66 3 Golgi apparatus;Nucleoplasm;Endoplasmic reticulum membrane NA Phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 4-phosphate (PtdIns(4)P) (PubMed:24209621). Has low activity towards PtdIns(3,5)P2 (By similarity). NA NA Synthesis of PIPs at the ER membrane;Synthesis of PIPs at the Golgi membrane PE1 3 +NX_Q9NTK1 Protein DEPP1 212 23406 10.68 0 Cytoplasmic vesicle;Cytoplasm;Mitochondrion;Peroxisome NA Acts as a critical modulator of FOXO3-induced autophagy via increased cellular ROS. NA NA NA PE1 10 +NX_Q9NTK5 Obg-like ATPase 1 396 44744 7.64 0 Nucleolus;Cytoplasm;Cytosol;Nucleus NA Hydrolyzes ATP, and can also hydrolyze GTP with lower efficiency. Has lower affinity for GTP. NA Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family. YchF/OLA1 subfamily. Platelet degranulation PE1 2 +NX_Q9NTM9 Copper homeostasis protein cutC homolog 273 29341 8.47 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA May play a role in copper homeostasis. Can bind one Cu(1+) per subunit. NA Belongs to the CutC family. Ion transport by P-type ATPases PE1 10 +NX_Q9NTN3 UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter 355 39240 9.06 8 Cytoplasm;Endoplasmic reticulum membrane Schneckenbecken dysplasia Transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm into the endoplasmic reticulum lumen (PubMed:11322953, PubMed:17952091). Plays a role in chondroitin sulfate biosynthesis, which is important for formation of cartilage extracellular matrix and normal skeletal development (By similarity). NA Belongs to the TPT transporter family. SLC35D subfamily. Transport of nucleotide sugars;Formation of the active cofactor, UDP-glucuronate;Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) PE1 1 +NX_Q9NTN9 Semaphorin-4G 838 91497 8.1 1 Cytoplasmic vesicle;Cell membrane;Lipid droplet NA Cell surface receptor for PLXNB2. May play a role in axon guidance (By similarity). NA Belongs to the semaphorin family. Axon guidance PE1 10 +NX_Q9NTQ9 Gap junction beta-4 protein 266 30419 8.4 4 Cell junction;Gap junction;Cell membrane Erythrokeratodermia variabilis et progressiva 2 Structural component of gap junctions (By similarity). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (By similarity). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (By similarity). NA Belongs to the connexin family. Beta-type (group I) subfamily. Gap junction assembly PE1 1 +NX_Q9NTU4 Cation channel sperm-associated protein subunit zeta 200 22839 5.8 0 Cytoplasm;Nucleoplasm;Flagellum membrane NA Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for a distribution of the CatSper complex in linear quadrilateral nanodomains along the flagellum, maximizing fertilization inside the mammalian female reproductive tract. Together with EFCAB9, associates with the CatSper channel pore and is required for the two-row structure of each single CatSper channel. NA NA NA PE1 11 +NX_Q9NTU7 Cerebellin-4 201 21808 8.85 0 Secreted;Synapse NA May be involved in synaptic functions in the CNS. May play a role in CBLN3 export from the endoplasmic reticulum and secretion (By similarity). NA NA NA PE1 20 +NX_Q9NTW7 Zinc finger protein 64 645 72217 8.8 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 20 +NX_Q9NTX5 Ethylmalonyl-CoA decarboxylase 307 33698 8.32 0 Cytoplasmic vesicle;Cytosol NA Decarboxylates ethylmalonyl-CoA, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading (PubMed:22016388). Also has methylmalonyl-CoA decarboxylase activity at lower level (By similarity). NA Belongs to the enoyl-CoA hydratase/isomerase family. NA PE1 6 +NX_Q9NTX7 E3 ubiquitin-protein ligase RNF146 359 38950 5.17 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA E3 ubiquitin-protein ligase that specifically binds poly-ADP-ribosylated (PARsylated) proteins and mediates their ubiquitination and subsequent degradation. May regulate many important biological processes, such as cell survival and DNA damage response. Acts as an activator of the Wnt signaling pathway by mediating the ubiquitination of PARsylated AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex. Acts in cooperation with tankyrase proteins (TNKS and TNKS2), which mediate PARsylation of target proteins AXIN1, AXIN2, BLZF1, CASC3, TNKS and TNKS2. Recognizes and binds tankyrase-dependent PARsylated proteins via its WWE domain and mediates their ubiquitination, leading to their degradation. Different ubiquitin linkage types have been observed: TNKS2 undergoes ubiquitination at 'Lys-48' and 'Lys-63', while AXIN1 is only ubiquitinated at 'Lys-48'. May regulate TNKS and TNKS2 subcellular location, preventing aggregation at a centrosomal location. Neuroprotective protein. Protects the brain against N-methyl-D-aspartate (NMDA) receptor-mediated glutamate excitotoxicity and ischemia, by interfering with PAR-induced cell death, called parthanatos. Prevents nuclear translocation of AIFM1 in a PAR-binding dependent manner. Does not affect PARP1 activation (By similarity). Protects against cell death induced by DNA damaging agents, such as N-methyl-N-nitro-N-nitrosoguanidine (MNNG) and rescues cells from G1 arrest. Promotes cell survival after gamma-irradiation. Facilitates DNA repair. Ubiquitinated; autoubiquitinated. Polyubiquitinated in the presence of UBE2D1, UBE2D2 and UBE2D3. Multimonoubiquitinated in the presence of UBE2E1. Not ubiquitinated in the presence of UBE2H, CDC34, UBE2L3, UBE2L6, nor UBE2C. In the absence of PAR, autoubiquitination occurs on Lys-85, Lys-95 and Lys-176 via 'Lys-11' and 'Lys-48' ubiquitin linkages. In the presence of PAR, Lys-131 and Lys-176 are ubiquitinated via 'Lys-6', 'Lys-33' and 'Lys-48' ubiquitin linkages. Autoubiquitination is enhanced upon PAR-binding. NA Protein modification; protein ubiquitination.;Degradation of AXIN;TCF dependent signaling in response to WNT;Ub-specific processing proteases;Regulation of PTEN stability and activity PE1 6 +NX_Q9NTX9 Protein FAM217B 383 42052 9.76 0 Nucleoplasm NA NA NA Belongs to the FAM217 family. NA PE1 20 +NX_Q9NTZ6 RNA-binding protein 12 932 97395 8.74 0 Nucleoplasm;Nucleus Schizophrenia 19 NA NA NA NA PE1 20 +NX_Q9NU02 Ankyrin repeat and EF-hand domain-containing protein 1 776 86664 8.51 0 Cytosol;Nucleolus;Cell membrane NA NA NA NA NA PE1 20 +NX_Q9NU19 TBC1 domain family member 22B 505 59081 6.94 0 Nucleoplasm;Cytosol NA May act as a GTPase-activating protein for Rab family protein(s). NA NA NA PE1 6 +NX_Q9NU22 Midasin 5596 632820 5.46 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Cytoskeleton NA Nuclear chaperone required for maturation and nuclear export of pre-60S ribosome subunits (PubMed:27814492). Functions at successive maturation steps to remove ribosomal factors at critical transition points, first driving the exit of early pre-60S particles from the nucleolus and then driving late pre-60S particles from the nucleus (By similarity). At an early stage in 60S maturation, mediates the dissociation of the PeBoW complex (PES1-BOP1-WDR12) from early pre-60S particles, rendering them competent for export from the nucleolus to the nucleoplasm (By similarity). Subsequently recruited to the nucleoplasmic particles through interaction with SUMO-conjugated PELP1 complex (PubMed:27814492). This binding is only possible if the 5S RNP at the central protuberance has undergone the rotation to complete its maturation (By similarity). NA Belongs to the midasin family. NA PE1 6 +NX_Q9NU23 LYR motif-containing protein 2 88 10449 10.46 0 Cytoplasm;Cytosol NA NA NA Belongs to the complex I LYR family. NA PE1 6 +NX_Q9NU39 Forkhead box protein D4-like 1 408 43610 9.36 0 Nucleus NA NA NA NA NA PE2 2 +NX_Q9NU53 Glycoprotein integral membrane protein 1 330 36840 4.81 1 Membrane;Nucleolus;Cell membrane NA NA NA NA NA PE1 6 +NX_Q9NU63 Zinc finger protein 57 homolog 452 51919 9.34 0 Nucleus Diabetes mellitus, transient neonatal, 1 Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation. Acts by controlling DNA methylation during the earliest multicellular stages of development at multiple imprinting control regions (ICRs) (PubMed:18622393, PubMed:30602440). Acts together with ZNF445, but ZNF445 seems to be the major factor in human early embryonic imprinting maintenance. In contrast, in mice, ZFP57 plays the predominant role in imprinting maintenance (PubMed:30602440). Required for the establishment of maternal methylation imprints at SNRPN locus. Acts as a transcriptional repressor in Schwann cells. Binds to a 5'-TGCCGC-3' consensus sequence and recognizes the methylated CpG within this element (By similarity). NA Belongs to the krueppel C2H2-type zinc-finger protein family. ZFP57 subfamily. NA PE1 6 +NX_Q9NUA8 Zinc finger and BTB domain-containing protein 40 1239 138118 6.11 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 1 +NX_Q9NUB1 Acetyl-coenzyme A synthetase 2-like, mitochondrial 689 74857 6.66 0 Mitochondrion matrix NA Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids (PubMed:16788062). Acetate is the preferred substrate (PubMed:16788062). Can also utilize propionate with a much lower affinity (By similarity). Provides acetyl-CoA that is utilized mainly for oxidation under ketogenic conditions (By similarity). Involved in thermogenesis under ketogenic conditions, using acetate as a vital fuel when carbohydrate availability is insufficient (By similarity). Reversibly acetylated on Lys-642 (PubMed:16788062). The acetyl-CoA synthase activity is inhibited by acetylation and activated by deacetylation mediated by the deacetylase SIRT3. Belongs to the ATP-dependent AMP-binding enzyme family. Glycolysis / Gluconeogenesis;Pyruvate metabolism;Propanoate metabolism;Metabolic pathways;Ethanol oxidation PE1 20 +NX_Q9NUB4 Uncharacterized protein C20orf141 165 17394 7.8 1 Membrane NA NA NA NA NA PE2 20 +NX_Q9NUC0 SERTA domain-containing protein 4 356 39348 6.27 0 Nucleoplasm NA NA NA NA NA PE1 1 +NX_Q9NUD5 Zinc finger CCHC domain-containing protein 3 403 43547 8.86 0 Cytoplasm;Cytoplasmic vesicle NA Nucleic acid-binding protein involved in innate immune response to DNA and RNA viruses (PubMed:30193849, PubMed:30135424). Binds DNA and RNA in the cytoplasm and acts by promoting recognition of viral nucleic acids by virus sensors, such as DDX58/RIG-I, IFIH1/MDA5 and CGAS (PubMed:30193849, PubMed:30135424). Acts as a co-sensor for recognition of double-stranded DNA (dsDNA) by cGAS in the cytoplasm, thereby playing a role in innate immune response to cytosolic dsDNA and DNA virus (PubMed:30135424). Binds dsDNA and probably acts by promoting sensing of dsDNA by CGAS, leading to enhance CGAS oligomerization and activation (PubMed:30135424). Promotes sensing of viral RNA by RIG-I-like receptors proteins DDX58/RIG-I and IFIH1/MDA5 via two mechanisms: binds double-stranded RNA (dsRNA), enhancing the binding of DDX58/RIG-I and IFIH1/MDA5 to dsRNA and promotes 'Lys-63'-linked ubiquitination and subsequent activation of DDX58/RIG-I and IFIH1/MDA5 (PubMed:30193849). NA NA NA PE1 20 +NX_Q9NUD7 Uncharacterized protein C20orf96 363 42859 8.81 0 Centriolar satellite NA NA NA NA NA PE1 20 +NX_Q9NUD9 GPI mannosyltransferase 2 493 55713 8.2 10 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum membrane Hyperphosphatasia with mental retardation syndrome 1 Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly. Not N-glycosylated. Belongs to the PIGV family. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Synthesis of glycosylphosphatidylinositol (GPI) PE1 1 +NX_Q9NUE0 Palmitoyltransferase ZDHHC18 388 42031 9.33 4 Membrane;Cytoskeleton NA Has palmitoyltransferase activity towards HRAS and LCK. NA Belongs to the DHHC palmitoyltransferase family. ERF2/ZDHHC9 subfamily. NA PE1 1 +NX_Q9NUG4 Cerebral cavernous malformations 2 protein-like 571 62179 5.62 0 Nucleoplasm NA NA NA Belongs to the CCM2 family. NA PE1 20 +NX_Q9NUG6 p53 and DNA damage-regulated protein 1 133 15511 5.81 0 Cytoplasm;Cytoskeleton NA May play a role in chaperone-mediated protein folding. NA Belongs to the prefoldin subunit beta family. NA PE1 20 +NX_Q9NUH8 Transmembrane protein 14B 114 12078 9.57 4 Membrane NA Primate-specific protein involved in cortical expansion and folding in the developing neocortex. May drive neural progenitor proliferation through nuclear translocation of IQGAP1, which in turn promotes G1/S cell cycle transitions. NA Belongs to the TMEM14 family. NA PE1 6 +NX_Q9NUI1 Peroxisomal 2,4-dienoyl-CoA reductase 292 30778 9.38 0 Peroxisome NA Auxiliary enzyme of beta-oxidation. Participates in the degradation of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions in peroxisome. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA. Has activity towards short and medium chain 2,4-dienoyl-CoAs, but also towards 2,4,7,10,13,16,19-docosaheptaenoyl-CoA, suggesting that it does not constitute a rate limiting step in the peroxisomal degradation of docosahexaenoic acid. NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. 2,4-dienoyl-CoA reductase subfamily. Peroxisome;Beta-oxidation of very long chain fatty acids;Peroxisomal protein import PE1 16 +NX_Q9NUJ1 Mycophenolic acid acyl-glucuronide esterase, mitochondrial 306 33933 8.81 0 Mitochondrion NA Catalyzes the deglucuronidation of mycophenolic acid acyl-glucuronide, a metabolite of the immunosuppressant drug mycophenolate. NA Belongs to the AB hydrolase superfamily. Glucuronidation PE1 3 +NX_Q9NUJ3 T-complex protein 11-like protein 1 509 57035 5.41 0 Cytosol NA NA NA Belongs to the TCP11 family. NA PE1 11 +NX_Q9NUJ7 PI-PLC X domain-containing protein 1 323 36668 6.11 0 Cytoplasm;Cytosol NA NA NA NA NA PE1 X +NX_Q9NUK0 Muscleblind-like protein 3 354 38532 9.13 0 Golgi apparatus;Cytoplasmic vesicle;Cytoplasm;Nucleus NA Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle differentiation, acting at approximately the time of myogenin induction. NA Belongs to the muscleblind family. NA PE1 X +NX_Q9NUL3 Double-stranded RNA-binding protein Staufen homolog 2 570 62608 9.62 0 Cytoplasm;Nucleolus;Nucleoplasm;Endoplasmic reticulum;Cytosol;Nucleus NA RNA-binding protein required for the microtubule-dependent transport of neuronal RNA from the cell body to the dendrite. As protein synthesis occurs within the dendrite, the localization of specific mRNAs to dendrites may be a prerequisite for neurite outgrowth and plasticity at sites distant from the cell body (By similarity). NA NA NA PE1 8 +NX_Q9NUL5 Shiftless antiviral inhibitor of ribosomal frameshifting protein 291 33110 6.86 0 Cytoplasm;Nucleoplasm;P-body;Cytosol;Nucleus NA Inhibits programmed -1 ribosomal frameshifting (-1PRF) of a variety of mRNAs from viruses, such as HIV1, and cellular genes, such as PEG10. Interacts with the -1PRF signal of target mRNA and translating ribosomes and causes premature translation termination at the frameshifting site (PubMed:30682371). Regulates HIV1 GAG-POL expression by inhibiting -1PRF (PubMed:30682371). Exhibits antiviral activity against dengue virus (DENV) and can inhibit the replication of all DENV serotypes. May block the protein translation of DENV RNA via its association with cellular mRNA-binding proteins and viral RNA. Can also limit the replication of hepatitis C virus (HCV), West Nile virus (WNV), Chikungunya virus (CHIKV), herpes simplex virus type 1 (HHV-1) and human adenovirus (PubMed:26735137, PubMed:27974568). Binds nucleic acids with a higher affinity for ssRNA and ssDNA than for dsDNA (PubMed:27974568).;Does not inhibit programmed ribosomal frameshifting (-1PRF). Does not bind to ribosomes. NA Belongs to the SHFL family. NA PE1 19 +NX_Q9NUL7 Probable ATP-dependent RNA helicase DDX28 540 59581 10.43 0 Mitochondrion;Mitochondrion matrix;Nucleolus;Mitochondrion nucleoid;Cytosol;Nucleus NA Plays an essential role in facilitating the proper assembly of the mitochondrial large ribosomal subunit and its helicase activity is essential for this function (PubMed:25683708, PubMed:25683715). May be involved in RNA processing or transport. Has RNA and Mg(2+)-dependent ATPase activity (PubMed:11350955). NA Belongs to the DEAD box helicase family. NA PE1 16 +NX_Q9NUM3 Zinc transporter ZIP9 307 32251 6.21 8 Membrane;Endoplasmic reticulum NA May act as a zinc-influx transporter. NA Belongs to the ZIP transporter (TC 2.A.5) family. NA PE1 14 +NX_Q9NUM4 Transmembrane protein 106B 274 31127 6.52 1 Lysosome membrane;Membrane;Endosome;Lysosome;Late endosome membrane Ubiquitin-positive frontotemporal dementia;Leukodystrophy, hypomyelinating, 16;Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with MAP6. May act by inhibiting retrograde transport of lysosomes along dendrites. Required for dendrite branching. NA Belongs to the TMEM106 family. NA PE1 7 +NX_Q9NUN5 Probable lysosomal cobalamin transporter 540 61389 7.89 9 Lysosome membrane Methylmalonic aciduria and homocystinuria, cblF type (Microbial infection) Isoform 3: May play a role in the assembly of hepatitis delta virus (HDV).;Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its conversion to cofactors. N-glycosylated. Belongs to the LIMR family. LMBRD1 subfamily. Vitamin digestion and absorption;Cobalamin (Cbl, vitamin B12) transport and metabolism;Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF PE1 6 +NX_Q9NUN7 Alkaline ceramidase 3 267 31552 8.87 7 Endoplasmic reticulum membrane;Golgi apparatus membrane Leukodystrophy, progressive, early childhood-onset Endoplasmic reticulum and Golgi ceramidase that catalyzes the hydrolysis of unsaturated long-chain C18:1-, C20:1- and C20:4-ceramides, dihydroceramides and phytoceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH (PubMed:20068046, PubMed:26792856, PubMed:20207939, PubMed:11356846, PubMed:30575723). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:20068046). Controls the generation of sphingosine in erythrocytes, and thereby sphingosine-1-phosphate in plasma (PubMed:20207939). Through the regulation of ceramides and sphingosine-1-phosphate homeostasis in the brain may play a role in neurons survival and function (By similarity). By regulating the levels of proinflammatory ceramides in immune cells and tissues, may modulate the inflammatory response (By similarity). NA Belongs to the alkaline ceramidase family. Lipid metabolism; sphingolipid metabolism.;Sphingolipid metabolism;Sphingolipid de novo biosynthesis PE1 11 +NX_Q9NUP1 Biogenesis of lysosome-related organelles complex 1 subunit 4 217 23351 4.9 0 Cytoplasm;Cytosol;Cytoplasmic vesicle NA Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking. NA Belongs to the BLOC1S4 family. Golgi Associated Vesicle Biogenesis PE1 4 +NX_Q9NUP7 tRNA:m(4)X modification enzyme TRM13 homolog 481 54247 8.36 0 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA TRNA methylase which 2'-O-methylates cytidine(4) in tRNA(Pro) and tRNA(Gly)(GCC), and adenosine(4) in tRNA(His). NA Belongs to the methyltransferase TRM13 family. tRNA modification in the nucleus and cytosol PE1 1 +NX_Q9NUP9 Protein lin-7 homolog C 197 21834 8.52 0 Cell membrane;Basolateral cell membrane;Cell junction;Tight junction;Postsynaptic density membrane NA Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells. NA Belongs to the lin-7 family. Dopamine Neurotransmitter Release Cycle;Neurexins and neuroligins;Assembly and cell surface presentation of NMDA receptors PE1 11 +NX_Q9NUQ2 1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon 364 42072 9.18 3 Endoplasmic reticulum membrane;Mitochondrion;Nucleus envelope NA Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (PubMed:21173190). Acts on LPA containing saturated or unsaturated fatty acids C15:0-C20:4 at the sn-1 position using C18:1-CoA as the acyl donor (PubMed:21173190). Also acts on lysophosphatidylethanolamine using oleoyl-CoA, but not arachidonoyl-CoA, and lysophosphatidylinositol using arachidonoyl-CoA, but not oleoyl-CoA (PubMed:21173190). Activity toward lysophosphatidylglycerol not detectable (PubMed:21173190). NA Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3.;Synthesis of PA PE1 8 +NX_Q9NUQ3 Gamma-taxilin 528 60586 7.23 0 Cytosol;Nucleus membrane NA May be involved in intracellular vesicle traffic. Inhibits ATF4-mediated transcription, possibly by dimerizing with ATF4 to form inactive dimers that cannot bind DNA. May be involved in regulating bone mass density through an ATF4-dependent pathway. May be involved in cell cycle progression. NA Belongs to the taxilin family. NA PE1 X +NX_Q9NUQ6 SPATS2-like protein 558 61729 9.67 0 Cytoplasm;Nucleolus;Cytosol;Nucleus;Cytoskeleton NA NA NA Belongs to the SPATS2 family. NA PE1 2 +NX_Q9NUQ7 Ufm1-specific protease 2 469 53261 6.52 0 Cytoplasm;Endoplasmic reticulum;Nucleoplasm;Cytosol;Nucleus Spondyloepimetaphyseal dysplasia, Di Rocco type;Beukes familial hip dysplasia Thiol protease which recognizes and hydrolyzes the peptide bond at the C-terminal Gly of UFM1, a ubiquitin-like modifier protein bound to a number of target proteins. Does not hydrolyze SUMO1 or ISG15 ubiquitin-like proteins. Through TRIP4 deufmylation may regulate intracellular nuclear receptors transactivation and thereby regulate cell proliferation and differentiation. NA Belongs to the peptidase C78 family. NA PE1 4 +NX_Q9NUQ8 ATP-binding cassette sub-family F member 3 709 79745 5.95 0 Cytosol;Nucleolus NA Displays an antiviral effect against flaviviruses such as west Nile virus (WNV) in the presence of OAS1B. NA Belongs to the ABC transporter superfamily. ABCF family. EF3 subfamily. NA PE1 3 +NX_Q9NUQ9 Protein FAM49B 324 36748 5.76 0 Membrane;Nucleoplasm;Cytosol NA NA NA Belongs to the FAM49 family. Platelet degranulation PE1 8 +NX_Q9NUR3 Transmembrane protein 74B 256 27551 6.97 2 Membrane;Golgi apparatus;Nucleoplasm NA NA NA Belongs to the TMEM74 family. NA PE1 20 +NX_Q9NUS5 AP-5 complex subunit sigma-1 200 22522 6.38 0 Nucleoplasm;Cytosol;Lysosome membrane;Late endosome membrane NA As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862, it is required for efficient homologous recombination DNA double-strand break repair. NA NA NA PE1 20 +NX_Q9NUT2 ATP-binding cassette sub-family B member 8, mitochondrial 735 79989 9.21 5 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion NA NA NA Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. ABC transporters;Mitochondrial ABC transporters PE1 7 +NX_Q9NUU6 Inactive ubiquitin thioesterase OTULINL 356 42196 9.36 0 Cytoplasm;Endoplasmic reticulum membrane;Nucleolus;Nucleus envelope;Cytosol NA Lacks deubiquitinase activity. NA Belongs to the peptidase C65 family. Otulin subfamily. NA PE1 5 +NX_Q9NUU7 ATP-dependent RNA helicase DDX19A 478 53975 6.2 0 Cytoplasm;Nucleus membrane;Nuclear pore complex NA ATP-dependent RNA helicase involved in mRNA export from the nucleus. Rather than unwinding RNA duplexes, DDX19 functions as a remodeler of ribonucleoprotein particles, whereby proteins bound to nuclear mRNA are dissociated and replaced by cytoplasmic mRNA binding proteins (By similarity). NA Belongs to the DEAD box helicase family. DDX19/DBP5 subfamily. NA PE1 16 +NX_Q9NUV7 Serine palmitoyltransferase 3 552 62049 8.9 1 Endoplasmic reticulum membrane;Cytoskeleton NA Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. SPT complexes containing SPTLC3 generate shorter chain sphingoid bases compared to complexes containing SPTLC2. The SPTLC1-SPTLC3-SPTSSA isozyme uses C12-CoA, C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. On the other hand, the SPTLC1-SPTLC3-SPTSSB has the ability to use a broader range of acyl-CoAs without apparent preference. NA Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. Lipid metabolism; sphingolipid metabolism.;Sphingolipid metabolism;Metabolic pathways;Sphingolipid de novo biosynthesis PE1 20 +NX_Q9NUV9 GTPase IMAP family member 4 329 37534 7.66 0 Cytosol NA During thymocyte development, may play a role in the regulation of apoptosis (By similarity). GTPase which exhibits a higher affinity for GDP than for GTP. Phosphorylated at very low levels in resting splenocytes. Rapidly and transiently phosphorylated in response to splenocyte activation. Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase family. IAN subfamily. NA PE1 7 +NX_Q9NUW8 Tyrosyl-DNA phosphodiesterase 1 608 68420 7.34 0 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a 3'-phosphodiester bond, giving rise to DNA with a free 3' phosphate. Catalyzes the hydrolysis of dead-end complexes between DNA and the topoisomerase I active site tyrosine residue. Hydrolyzes 3'-phosphoglycolates on protruding 3' ends on DNA double-strand breaks due to DNA damage by radiation and free radicals. Acts on blunt-ended double-strand DNA breaks and on single-stranded DNA. Has low 3'exonuclease activity and can remove a single nucleoside from the 3'end of DNA and RNA molecules with 3'hydroxyl groups. Has no exonuclease activity towards DNA or RNA with a 3'phosphate. Phosphorylated on serine and/or threonine residues, but not on tyrosine residues. Belongs to the tyrosyl-DNA phosphodiesterase family. Nonhomologous End-Joining (NHEJ) PE1 14 +NX_Q9NUX5 Protection of telomeres protein 1 634 71442 6.26 0 Nucleoplasm;Telomere;Nucleus Glioma 9;Melanoma, cutaneous malignant 10 Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Binds to two or more telomeric single-stranded 5'-TTAGGG-3' repeats (G-strand) and with high specificity to a minimal telomeric single-stranded 5'-TAGGGTTAG-3' sequence. Binds telomeric single-stranded sequences internally or at proximity of a 3'-end. Its activity is TERT dependent but it does not increase TERT activity by itself. In contrast, the ACD-POT1 heterodimer enhances telomere elongation by increasing telomerase processivity. NA Belongs to the telombin family. Meiotic synapsis;Packaging Of Telomere Ends;DNA Damage/Telomere Stress Induced Senescence;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine PE1 7 +NX_Q9NUY8 TBC1 domain family member 23 699 78322 5.23 0 trans-Golgi network;Cytoplasmic vesicle;Golgi apparatus Pontocerebellar hypoplasia 11 Putative Rab GTPase-activating protein which plays a role in vesicular trafficking (PubMed:28823707). Involved in endosome-to-Golgi trafficking. Acts as a bridging protein by binding simultaneously to golgins, including GOLGA1 and GOLGA4, located at the trans-Golgi, and to the WASH complex, located on endosome-derived vesicles (PubMed:29084197, PubMed:29426865). Together with WDR11 complex facilitates the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865). Plays a role in brain development, including in cortical neuron positioning (By similarity). May also be important for neurite outgrowth, possibly through its involvement in membrane trafficking and cargo delivery, 2 processes that are essential for axonal and dendritic growth (By similarity). May act as a general inhibitor of innate immunity signaling, strongly inhibiting multiple TLR and dectin/CLEC7A-signaling pathways. Does not alter initial activation events, but instead affects maintenance of inflammatory gene expression several hours after bacterial lipopolysaccharide (LPS) challenge (By similarity). NA NA NA PE1 3 +NX_Q9NUZ1 Acyl-coenzyme A oxidase-like protein 547 61795 8.78 0 Cytosol;Nucleolus NA NA NA Belongs to the acyl-CoA oxidase family. Beta-oxidation of pristanoyl-CoA PE2 2 +NX_Q9NV06 DDB1- and CUL4-associated factor 13 445 51402 9.3 0 Cell junction;Nucleolus;Nucleoplasm;Centrosome;Cytosol NA Possible role in ribosomal RNA processing (By similarity). May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. NA Belongs to the WD repeat DCAF13/WDSOF1 family. Protein modification; protein ubiquitination.;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol;Neddylation PE1 8 +NX_Q9NV12 Transmembrane protein 140 185 20419 7.62 4 Membrane NA NA NA NA NA PE1 7 +NX_Q9NV23 S-acyl fatty acid synthase thioesterase, medium chain 265 29931 5.81 0 Cytosol NA Contributes to the release of free fatty acids from fatty acid synthase (FASN). Has broad substrate specificity, giving rise to a range of free fatty acids with chain lengths between 10 and 16 carbon atoms (C10 - C16). NA Belongs to the thioesterase family. Fatty acid biosynthesis;Metabolic pathways;Fatty acyl-CoA biosynthesis PE1 10 +NX_Q9NV29 Transmembrane protein 100 134 14386 9.55 2 Cell membrane;Perikaryon;Membrane;Nucleoplasm;Endoplasmic reticulum;Perinuclear region NA Plays a role during embryonic arterial endothelium differentiation and vascular morphogenesis through the ACVRL1 receptor-dependent signaling pathway upon stimulation by bone morphogenetic proteins, such as GDF2/BMP9 and BMP10. Involved in the regulation of nociception, acting as a modulator of the interaction between TRPA1 and TRPV1, two molecular sensors and mediators of pain signals in dorsal root ganglia (DRG) neurons. Mechanistically, it weakens their interaction, thereby releasing the inhibition of TRPA1 by TRPV1 and increasing the single-channel open probability of the TRPA1-TRPV1 complex. NA NA NA PE1 17 +NX_Q9NV31 U3 small nucleolar ribonucleoprotein protein IMP3 184 21850 9.54 0 Nucleoplasm;Nucleolus;Nucleus NA Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing. NA Belongs to the universal ribosomal protein uS4 family. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 15 +NX_Q9NV35 Nucleotide triphosphate diphosphatase NUDT15 164 18609 5.75 0 Nucleoplasm NA May catalyze the hydrolysis of nucleoside triphosphates including dGTP, dTTP, dCTP, their oxidized forms like 8-oxo-dGTP and the prodrug thiopurine derivatives 6-thio-dGTP and 6-thio-GTP (PubMed:26238318). Could also catalyze the hydrolysis of some nucleoside diphosphate derivatives (PubMed:22556419, PubMed:26238318). Hydrolyzes oxidized nucleosides triphosphates like 8-oxo-dGTP in vitro, but the specificity and efficiency towards these substrates are low. Therefore, the potential in vivo sanitizing role of this enzyme, that would consist in removing oxidatively damaged forms of nucleosides to prevent their incorporation into DNA, is unclear (PubMed:26238318, PubMed:22556419). Through the hydrolysis of thioguanosine triphosphates may participate in the catabolism of thiopurine drugs (PubMed:26238318, PubMed:25108385). May also have a role in DNA synthesis and cell cycle progression by stabilizing PCNA (PubMed:19419956). NA Belongs to the Nudix hydrolase family. Phosphate bond hydrolysis by NUDT proteins PE1 13 +NX_Q9NV39 Proline-rich protein 34 138 14718 12.42 0 NA NA NA NA NA NA PE1 22 +NX_Q9NV44 Putative uncharacterized protein encoded by LINC00846 126 13706 7.06 0 NA NA NA NA NA NA PE5 21 +NX_Q9NV56 MRG/MORF4L-binding protein 204 22417 5.57 0 Nucleoplasm;Nucleus NA Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. NA Belongs to the EAF7 family. HATs acetylate histones PE1 20 +NX_Q9NV58 E3 ubiquitin-protein ligase RNF19A 838 90696 6.59 2 Membrane;Centrosome NA E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as SNCAIP or CASR. Specifically ubiquitinates pathogenic SOD1 variants, which leads to their proteasomal degradation and to neuronal protection. NA Belongs to the RBR family. RNF19 subfamily. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 8 +NX_Q9NV64 Transmembrane protein 39A 488 55667 9.01 8 Membrane;Cytoplasmic vesicle;Nucleoplasm NA NA NA Belongs to the TMEM39 family. NA PE1 3 +NX_Q9NV66 S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1 732 83702 6.42 0 NA NA Probable component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the condensation of N-methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis (By similarity). NA Belongs to the TYW1 family. tRNA modification; wybutosine-tRNA(Phe) biosynthesis.;Synthesis of wybutosine at G37 of tRNA(Phe) PE1 7 +NX_Q9NV70 Exocyst complex component 1 894 101982 6.17 0 Cytoplasm;Cell membrane;Midbody ring;Cytosol;Perinuclear region;Cytoskeleton NA (Microbial infection) Has an antiviral effect against flaviviruses by affecting viral RNA transcription and translation through the sequestration of elongation factor 1-alpha (EEF1A1). This results in decreased viral RNA synthesis and decreased viral protein translation.;Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. NA Belongs to the SEC3 family. Translocation of SLC2A4 (GLUT4) to the plasma membrane;Insulin processing;VxPx cargo-targeting to cilium PE1 4 +NX_Q9NV72 Zinc finger protein 701 531 60903 9.41 0 Nucleoplasm;Centriolar satellite;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9NV79 Protein-L-isoaspartate O-methyltransferase domain-containing protein 2 361 41072 5.8 0 Cytoplasm;Nucleoplasm;Mitochondrion NA NA NA Belongs to the methyltransferase superfamily. L-isoaspartyl/D-aspartyl protein methyltransferase family. NA PE1 20 +NX_Q9NV88 Integrator complex subunit 9 658 73814 5.9 0 Nucleoplasm;Nucleus NA Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267). NA Belongs to the metallo-beta-lactamase superfamily. RNA-metabolizing metallo-beta-lactamase-like family. INTS9 subfamily. RNA polymerase II transcribes snRNA genes PE1 8 +NX_Q9NV92 NEDD4 family-interacting protein 2 336 36390 4.99 3 Cytoplasmic vesicle;Endosome membrane;Multivesicular body membrane;Golgi apparatus membrane NA Activates HECT domain-containing E3 ubiquitin-protein ligases, including ITCH, NEDD4, NEDD4L, SMURF2, WWP1 and WWP2, and consequently modulates the stability of their targets. As a result, may control many cellular processes. Recruits ITCH, NEDD4 and SMURF2 to endosomal membranes. Negatively regulates KCNH2 potassium channel activity by decreasing its cell-surface expression and interfering with channel maturation through recruitment of NEDD4L to the Golgi apparatus and multivesicular body where it mediates KCNH2 degradation (PubMed:26363003). May modulate EGFR signaling. Together with NDFIP1, limits the cytokine signaling and expansion of effector Th2 T-cells by promoting degradation of JAK1, probably by ITCH- and NEDD4L-mediated ubiquitination (By similarity). Ubiquitinated by NEDD4 and ITCH. Also ubiquitinated by NEDD4L. Ubiquitination by NEDD4 or NEDD4L does not affect turnover (By similarity).;Undergoes transient tyrosine-phosphorylation following EGF stimulation, most probably catalyzed by SRC. Phosphorylation on Tyr-151, Tyr-171 and Tyr-177 are dependent on the phosphorylation on Tyr-167. Also phosphorylated by LYN and FYN.;NDFIP2 is phosphorylated by SRC (Phosphotyrosine:PTM-0255);NDFIP2 is phosphorylated by LYN (Phosphotyrosine:PTM-0255) NA NA PE1 13 +NX_Q9NV96 Cell cycle control protein 50A 361 40684 8.81 2 Golgi apparatus;Mitochondrion;Cell membrane;Membrane;Secretory vesicle membrane;Apical cell membrane NA Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate. Required for the proper folding, assembly and ER to Golgi exit of the ATP8A2:TMEM30A flippase complex. ATP8A2:TMEM30A may be involved in regulation of neurite outgrowth, and, reconstituted to liposomes, predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). The ATP8A1:TMEM30A flippase complex seems to play a role in regulation of cell migration probably involving flippase-mediated translocation of phosphatidylethanolamine (PE) at the plasma membrane. Required for the formation of the ATP8A2, ATP8B1 and ATP8B2 P-type ATPAse intermediate phosphoenzymes. Involved in uptake of platelet-activating factor (PAF), synthetic drug alkylphospholipid edelfosine, and, probably in association with ATP8B1, of perifosine. Also mediates the export of alpha subunits ATP8A1, ATP8B1, ATP8B2, ATP8B4, ATP10A, ATP10B, ATP10D, ATP11A, ATP11B and ATP11C from the ER to other membrane localizations. N-glycosylated. Contains high mannose-type oligosaccharides (By similarity). Belongs to the CDC50/LEM3 family. Neutrophil degranulation PE1 6 +NX_Q9NVA1 Ubiquinol-cytochrome-c reductase complex assembly factor 1 299 34600 9.1 0 Cell membrane;Nucleoplasm;Cytoplasmic vesicle;Mitochondrion inner membrane;Cytoskeleton NA Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Involved in cytochrome b translation and/or stability. NA Belongs to the CBP3 family. NA PE1 20 +NX_Q9NVA2 Septin-11 429 49398 6.36 0 Cytoplasm;Dendritic spine;Cell membrane;Synapse;Axon;Cytoskeleton NA Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential). May play a role in the cytoarchitecture of neurons, including dendritic arborization and dendritic spines, and in GABAergic synaptic connectivity (By similarity). During Listeria monocytogenes infection, not required for the bacterial entry process, but restricts its efficacy. NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. NA PE1 4 +NX_Q9NVA4 Transmembrane protein 184C 438 50142 5.85 7 Membrane;Nucleoplasm;Cytoplasmic vesicle NA Possible tumor suppressor which may play a role in cell growth. NA Belongs to the TMEM184 family. NA PE1 4 +NX_Q9NVC3 Putative sodium-coupled neutral amino acid transporter 7 462 49966 4.98 11 Cell membrane;Membrane;Nucleoplasm;Endosome;Cytosol NA Mediates sodium-dependent transport of amino acids, preferentially L-glutamine. NA Belongs to the amino acid/polyamine transporter 2 family. NA PE1 16 +NX_Q9NVC6 Mediator of RNA polymerase II transcription subunit 17 651 72890 7.05 0 Cytosol;Nucleus speckle;Nucleus Microcephaly, postnatal progressive, with seizures and brain atrophy Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 17 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 11 +NX_Q9NVD3 SET domain-containing protein 4 440 50416 8.53 0 Cytosol;Nucleus speckle;Nucleus NA NA NA Belongs to the class V-like SAM-binding methyltransferase superfamily. SETD4 family. NA PE1 21 +NX_Q9NVD7 Alpha-parvin 372 42244 5.69 0 Cell membrane;Focal adhesion;Cytosol;Z line;Cytoskeleton NA Plays a role in sarcomere organization and in smooth muscle cell contraction. Required for normal development of the embryonic cardiovascular system, and for normal septation of the heart outflow tract. Plays a role in sprouting angiogenesis and is required for normal adhesion of vascular smooth muscle cells to endothelial cells during blood vessel development (By similarity). Plays a role in the reorganization of the actin cytoskeleton, formation of lamellipodia and ciliogenesis. Plays a role in the establishement of cell polarity, cell adhesion, cell spreading, and directed cell migration. NA Belongs to the parvin family. Focal adhesion;Regulation of cytoskeletal remodeling and cell spreading by IPP complex components;Localization of the PINCH-ILK-PARVIN complex to focal adhesions;Cell-extracellular matrix interactions PE1 11 +NX_Q9NVE4 Coiled-coil domain-containing protein 87 849 96402 8.74 0 NA NA Plays a role in spermatogenesis, where it is important for normal sperm head morphology. Also required for the acrosome reaction and thus normal male fertility. NA Belongs to the CCDC87 family. NA PE1 11 +NX_Q9NVE5 Ubiquitin carboxyl-terminal hydrolase 40 1235 140130 5.46 0 Cytoplasmic vesicle NA May be catalytically inactive. NA Belongs to the peptidase C19 family. NA PE1 2 +NX_Q9NVE7 Pantothenate kinase 4 773 85991 5.88 0 Cytoplasm;Cytosol NA Plays a role in the physiological regulation of the intracellular CoA concentration (By similarity). The phosphatase activity shows preference for normal or oxidatively damaged intermediates of 4'-phosphopantetheine, which provides strong indirect evidence that the phosphatase activity pre-empts damage in the CoA pathway (PubMed:27322068). Hydrolyzing excess 4'-phosphopantetheine could constitute a directed overflow mechanism to prevent its oxidation to the S-sulfonate, sulfonate, or other forms (PubMed:27322068). Hydrolyzing 4'-phosphopantetheine sulfonate or S-sulfonate would forestall their conversion to inactive forms of CoA and acyl carrier protein (PubMed:27322068). NA In the N-terminal section; belongs to the type II pantothenate kinase family.;In the C-terminal section; belongs to the damage-control phosphatase family. Phosphopantetheine phosphatase II subfamily. Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 1/5.;Pantothenate and CoA biosynthesis;Metabolic pathways;Coenzyme A biosynthesis PE1 1 +NX_Q9NVF7 F-box only protein 28 368 41149 9.59 0 Nucleoplasm;Focal adhesion;Kinetochore NA Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. NA NA NA PE1 1 +NX_Q9NVF9 Ethanolamine kinase 2 386 44781 6.94 0 NA NA Highly specific for ethanolamine phosphorylation. Does not have choline kinase activity (By similarity). NA Belongs to the choline/ethanolamine kinase family. Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 1/3.;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PE PE1 1 +NX_Q9NVG8 TBC1 domain family member 13 400 46554 5.11 0 Membrane;Cytoplasm;Nucleolus NA Acts as a GTPase-activating protein for RAB35. Together with RAB35 may be involved in regulation of insulin-induced glucose transporter SLC2A4/GLUT4 translocation to the plasma membrane in adipocytes. NA NA TBC/RABGAPs PE1 9 +NX_Q9NVH0 Exonuclease 3'-5' domain-containing protein 2 621 70353 8.63 1 Mitochondrion outer membrane;Mitochondrion;Mitochondrion matrix;Chromosome;Nucleus;Cytoskeleton NA Exonuclease that has both 3'-5' exoribonuclease and exodeoxyribonuclease activities, depending on the divalent metal cation used as cofactor (PubMed:29335528, PubMed:31127291). In presence of Mg(2+), only shows 3'-5' exoribonuclease activity, while it shows both exoribonuclease and exodeoxyribonuclease activities in presence of Mn(2+) (PubMed:29335528, PubMed:31127291). Acts as an exoribonuclease in mitochondrion, possibly by regulating ATP production and mitochondrial translation (PubMed:29335528). Also involved in the response to DNA damage (PubMed:26807646, PubMed:31255466). Acts as 3'-5' exodeoxyribonuclease for double-strand breaks resection and efficient homologous recombination (PubMed:20603073, PubMed:26807646). Plays a key role in controlling the initial steps of chromosomal break repair, it is recruited to chromatin in a damage-dependent manner and functionally interacts with the MRN complex to accelerate resection through its 3'-5' exonuclease activity, which efficiently processes double-stranded DNA substrates containing nicks (PubMed:26807646). Also involved in response to replicative stress: recruited to stalled forks and is required to stabilize and restart stalled replication forks by restraining excessive fork regression, thereby suppressing their degradation (PubMed:31255466). NA Belongs to the EXD2 family. NA PE1 14 +NX_Q9NVH1 DnaJ homolog subfamily C member 11 559 63278 8.54 0 Mitochondrion outer membrane;Cytosol;Mitochondrion NA Required for mitochondrial inner membrane organization. Seems to function through its association with the MICOS complex and the mitochondrial outer membrane sorting assembly machinery (SAM) complex. NA Belongs to the DNAJC11 family. Cristae formation PE1 1 +NX_Q9NVH2 Integrator complex subunit 7 962 106834 8.3 0 Cytoplasm;Centrosome;Nucleus;Chromosome NA Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Plays a role in DNA damage response (DDR) signaling during the S phase (PubMed:21659603). May be not involved in the recruitment of cytoplasmic dynein to the nuclear envelope by different components of the INT complex (PubMed:23904267). NA Belongs to the Integrator subunit 7 family. RNA polymerase II transcribes snRNA genes PE1 1 +NX_Q9NVH6 Trimethyllysine dioxygenase, mitochondrial 421 49518 7.64 0 Mitochondrion matrix;Mitochondrion Autism, X-linked 6 Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML) (PubMed:11431483, PubMed:23092983). NA Belongs to the gamma-BBH/TMLD family. Amine and polyamine biosynthesis; carnitine biosynthesis.;Lysine degradation;Carnitine synthesis PE1 X +NX_Q9NVI1 Fanconi anemia group I protein 1328 149324 6.31 0 Nucleoplasm;Nucleus Fanconi anemia complementation group I Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched DNA: binds both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage. Monoubiquitinated by FANCL on Lys-523 during S phase and upon genotoxic stress. Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the FANCA-FANCB-FANCC-FANCE-FANCF-FANCG-FANCM complex. Ubiquitination is required for binding to chromatin, DNA repair, and normal cell cycle progression. Monoubiquitination is stimulated by DNA-binding.;Phosphorylated in response to DNA damage by ATM and/or ATR. NA Fanconi anemia pathway;Fanconi Anemia Pathway;TP53 Regulates Transcription of DNA Repair Genes PE1 15 +NX_Q9NVI7 ATPase family AAA domain-containing protein 3A 634 71369 9.08 1 Mitochondrion inner membrane;Mitochondrion nucleoid Harel-Yoon syndrome Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level. May play an important role in mitochondrial protein synthesis. May also participate in mitochondrial DNA replication. May bind to mitochondrial DNA D-loops and contribute to nucleoid stability. Required for enhanced channeling of cholesterol for hormone-dependent steroidogenesis. NA Belongs to the AAA ATPase family. NA PE1 1 +NX_Q9NVJ2 ADP-ribosylation factor-like protein 8B 186 21539 8.67 0 Axon;Lysosome membrane;Synapse;Spindle;Late endosome membrane NA Plays a role in lysosome motility (PubMed:16537643, PubMed:25898167). In neurons, mediates the anterograde axonal long-range transport of presynaptic lysosome-related vesicles required for presynaptic biogenesis and synaptic function (By similarity). May play a role in chromosome segregation (PubMed:15331635). NA Belongs to the small GTPase superfamily. Arf family. NA PE1 3 +NX_Q9NVK5 FGFR1 oncogene partner 2 253 29426 5.69 0 Cytoplasm;Mitochondrion NA May be involved in wound healing pathway. NA Belongs to the SIKE family. Signaling by FGFR1 in disease;Signaling by cytosolic FGFR1 fusion mutants PE1 12 +NX_Q9NVL1 Protein FAM86C1 165 18454 8.51 0 NA NA NA NA Belongs to the class I-like SAM-binding methyltransferase superfamily. EEF2KMT family. NA PE1 11 +NX_Q9NVL8 Uncharacterized protein CCDC198 296 34690 9.28 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 14 +NX_Q9NVM1 Protein eva-1 homolog B 165 18374 4.62 1 Membrane;Cytosol NA NA NA Belongs to the EVA1 family. NA PE1 1 +NX_Q9NVM4 Protein arginine N-methyltransferase 7 692 78459 5.33 0 Nucleolus;Nucleoplasm;Cytosol;Nucleus Short stature, brachydactyly, intellectual developmental disability, and seizures Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA. Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles. Specifically mediates the symmetric dimethylation of histone H4 'Arg-3' to form H4R3me2s. Plays a role in gene imprinting by being recruited by CTCFL at the H19 imprinted control region (ICR) and methylating histone H4 to form H4R3me2s, possibly leading to recruit DNA methyltransferases at these sites. May also play a role in embryonic stem cell (ESC) pluripotency. Also able to mediate the arginine methylation of histone H2A and myelin basic protein (MBP) in vitro; the relevance of such results is however unclear in vivo. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family. PRMT7 subfamily. RMTs methylate histone arginines PE1 16 +NX_Q9NVM6 DnaJ homolog subfamily C member 17 304 34687 8.61 0 Cytoplasm;Nucleoplasm;Nucleus NA May negatively affect PAX8-induced thyroglobulin/TG transcription. NA NA NA PE1 15 +NX_Q9NVM9 Integrator complex subunit 13 706 80225 6.24 0 Nucleoplasm;Cytoplasm;Nucleus;Cytoplasmic vesicle NA Crucial regulator of the mitotic cell cycle and development. At prophase, required for dynein anchoring to the nuclear envelope important for proper centrosome-nucleus coupling. At G2/M phase, may be required for proper spindle formation and execution of cytokinesis. Probable component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing (PubMed:23904267). NA Belongs to the asunder family. RNA polymerase II transcribes snRNA genes PE1 12 +NX_Q9NVN3 Synembryn-B 520 58825 5.52 0 Cell cortex NA Guanine nucleotide exchange factor (GEF), which can activate some, but not all, G-alpha proteins by exchanging bound GDP for free GTP. Able to potentiate G(olf)-alpha-dependent cAMP accumulation suggesting that it may be an important component for odorant signal transduction. NA Belongs to the synembryn family. NA PE1 12 +NX_Q9NVN8 Guanine nucleotide-binding protein-like 3-like protein 582 65573 8.68 0 Nucleoplasm;Cytosol;Nucleolus NA Stabilizes TERF1 telomeric association by preventing TERF1 recruitment by PML. Stabilizes TERF1 protein by preventing its ubiquitination and hence proteasomal degradation. Does so by interfering with TERF1-binding to FBXO4 E3 ubiquitin-protein ligase. Required for cell proliferation. By stabilizing TRF1 protein during mitosis, promotes metaphase-to-anaphase transition. Stabilizes MDM2 protein by preventing its ubiquitination, and hence proteasomal degradation. By acting on MDM2, may affect TP53 activity. Required for normal processing of ribosomal pre-rRNA. Binds GTP. NA Belongs to the TRAFAC class YlqF/YawG GTPase family. Ribosome biogenesis in eukaryotes PE1 X +NX_Q9NVP1 ATP-dependent RNA helicase DDX18 670 75407 9.52 0 Nucleus;Nucleolus;Chromosome NA Probable RNA-dependent helicase. NA Belongs to the DEAD box helicase family. DDX18/HAS1 subfamily. NA PE1 2 +NX_Q9NVP2 Histone chaperone ASF1B 202 22434 4.46 0 Nucleoplasm;Nucleus NA Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly. Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly. Does not participate in replication-independent nucleosome deposition which is mediated by ASF1A and HIRA. Required for spermatogenesis. Phosphorylated by TLK1 and TLK2. Belongs to the ASF1 family. NA PE1 19 +NX_Q9NVP4 Double zinc ribbon and ankyrin repeat-containing protein 1 752 82192 8.44 0 Nucleolus NA NA NA NA NA PE1 20 +NX_Q9NVQ4 Fas apoptotic inhibitory molecule 1 179 20215 5.55 0 Cytoplasm;Cytosol;Cell membrane NA Plays a role as an inducible effector molecule that mediates Fas resistance produced by surface Ig engagement in B cells. NA Belongs to the FAIM1 family. NA PE1 3 +NX_Q9NVR0 Kelch-like protein 11 708 80148 5.78 0 NA NA Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, leading most often to their proteasomal degradation. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 17 +NX_Q9NVR2 Integrator complex subunit 10 710 82236 7.24 0 Nucleoplasm;Cytosol;Nucleus NA Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). May be not involved in the recruitment of cytoplasmic dynein to the nuclear envelope by different components of the INT complex (PubMed:23904267). NA Belongs to the Integrator subunit 10 family. RNA polymerase II transcribes snRNA genes PE1 8 +NX_Q9NVR5 Protein kintoun 837 91114 5.1 0 Cytoplasm;Cytosol Ciliary dyskinesia, primary, 10 Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment. NA Belongs to the PIH1 family. Kintoun subfamily. NA PE1 14 +NX_Q9NVR7 TBCC domain-containing protein 1 557 63530 8.93 0 Spindle pole;Centrosome NA Plays a role in the regulation of centrosome and Golgi apparatus positioning, with consequences on cell shape and cell migration. NA Belongs to the TBCC family. NA PE1 3 +NX_Q9NVS2 39S ribosomal protein S18a, mitochondrial 196 22184 10.35 0 Mitochondrion NA NA NA Belongs to the bacterial ribosomal protein bS18 family. Mitochondrion-specific ribosomal protein mL66 subfamily. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 6 +NX_Q9NVS9 Pyridoxine-5'-phosphate oxidase 261 29988 6.61 0 Nucleoplasm;Cytosol Pyridoxine-5'-phosphate oxidase deficiency Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP). NA Belongs to the pyridoxamine 5'-phosphate oxidase family. Cofactor metabolism; pyridoxal 5'-phosphate salvage; pyridoxal 5'-phosphate from pyridoxamine 5'-phosphate: step 1/1.;Cofactor metabolism; pyridoxal 5'-phosphate salvage; pyridoxal 5'-phosphate from pyridoxine 5'-phosphate: step 1/1.;Vitamin B6 metabolism;Metabolic pathways;Vitamins B6 activation to pyridoxal phosphate PE1 17 +NX_Q9NVT9 Armadillo repeat-containing protein 1 282 31281 5.54 0 Mitochondrion NA NA NA NA NA PE1 8 +NX_Q9NVU0 DNA-directed RNA polymerase III subunit RPC5 708 79898 6.05 0 Nucleoplasm;Nucleus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Essential for efficient transcription from both the type 2 VAI and type 3 U6 RNA polymerase III promoters. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity). NA NA Purine metabolism;Pyrimidine metabolism;RNA polymerase;Cytosolic DNA-sensing pathway;Cytosolic sensors of pathogen-associated DNA;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter PE1 16 +NX_Q9NVU7 Protein SDA1 homolog 687 79871 9.29 0 Nucleoplasm;Nucleolus NA Required for 60S pre-ribosomal subunits export to the cytoplasm. NA Belongs to the SDA1 family. NA PE1 4 +NX_Q9NVV0 Trimeric intracellular cation channel type B 291 32510 9.16 7 Endoplasmic reticulum membrane Osteogenesis imperfecta 14 Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores. NA Belongs to the TMEM38 family. NA PE1 9 +NX_Q9NVV2 Putative uncharacterized protein C19orf73 129 13750 12 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 19 +NX_Q9NVV4 Poly(A) RNA polymerase, mitochondrial 582 66172 9.24 0 Cytoplasm;Mitochondrion Spastic ataxia 4, autosomal recessive Polymerase that creates the 3' poly(A) tail of mitochondrial transcripts. Can use all four nucleotides, but has higher activity with ATP and UTP (in vitro). Plays a role in replication-dependent histone mRNA degradation. May be involved in the terminal uridylation of mature histone mRNAs before their degradation is initiated. Might be responsible for the creation of some UAA stop codons which are not encoded in mtDNA. NA Belongs to the DNA polymerase type-B-like family. NA PE1 10 +NX_Q9NVV5 Androgen-induced gene 1 protein 245 28222 8.49 6 Golgi apparatus;Cell membrane NA Hydrolyzes bioactive fatty-acid esters of hydroxy-fatty acids (FAHFAs), but not other major classes of lipids (PubMed:27018888). Show a preference for FAHFAs with branching distal from the carboxylate head group of the lipids (PubMed:27018888). NA Belongs to the AIG1 family. NA PE1 6 +NX_Q9NVV9 THAP domain-containing protein 1 213 24944 8.66 0 Nucleoplasm;PML body Dystonia 6, torsion DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptotic activity by potentiating both serum-withdrawal and TNF-induced apoptosis. NA Belongs to the THAP1 family. NA PE1 8 +NX_Q9NVW2 E3 ubiquitin-protein ligase RLIM 624 68549 7.2 0 Nucleoplasm;Cytosol;Nucleus Tonne-Kalscheuer syndrome E3 ubiquitin-protein ligase. Acts as a negative coregulator for LIM homeodomain transcription factors by mediating the ubiquitination and subsequent degradation of LIM cofactors LDB1 and LDB2 and by mediating the recruitment the SIN3a/histone deacetylase corepressor complex. Ubiquitination and degradation of LIM cofactors LDB1 and LDB2 allows DNA-bound LIM homeodomain transcription factors to interact with other protein partners such as RLIM. Plays a role in telomere length-mediated growth suppression by mediating the ubiquitination and degradation of TERF1. By targeting ZFP42 for degradation, acts as an activator of random inactivation of X chromosome in the embryo, a stochastic process in which one X chromosome is inactivated to minimize sex-related dosage differences of X-encoded genes in somatic cells of female placental mammals. NA Belongs to the RNF12 family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 X +NX_Q9NVX0 HAUS augmin-like complex subunit 2 235 26933 7.74 0 Nucleoplasm;Cytosol;Spindle;Centrosome NA Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. NA Belongs to the HAUS2 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 15 +NX_Q9NVX2 Notchless protein homolog 1 485 53320 6.92 0 Nucleoplasm;Nucleolus NA Plays a role in regulating Notch activity. Plays a role in regulating the expression of CDKN1A and several members of the Wnt pathway, probably via its effects on Notch activity. Required during embryogenesis for inner mass cell survival (By similarity). NA Belongs to the NLE1/RSA4 family. NA PE1 17 +NX_Q9NVX7 Kelch repeat and BTB domain-containing protein 4 518 58144 5.42 0 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm;Cytosol NA NA NA NA NA PE1 11 +NX_Q9NVZ3 Adaptin ear-binding coat-associated protein 2 263 28339 8.49 0 Cytoplasm;Cell membrane;Endoplasmic reticulum;Clathrin-coated vesicle membrane;Nucleus NA Involved in endocytosis. NA Belongs to the NECAP family. Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 1 +NX_Q9NW07 Zinc finger protein 358 568 59287 6.11 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q9NW08 DNA-directed RNA polymerase III subunit RPC2 1133 127785 8.77 0 Nucleus speckle;Nucleus Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol III is composed of mobile elements and RPC2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity). Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway. NA Belongs to the RNA polymerase beta chain family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Cytosolic DNA-sensing pathway;Cytosolic sensors of pathogen-associated DNA;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter PE1 12 +NX_Q9NW13 RNA-binding protein 28 759 85738 9.26 0 Nucleolus Alopecia, neurologic defects, and endocrinopathy syndrome Nucleolar component of the spliceosomal ribonucleoprotein complexes. NA NA Ribosome biogenesis in eukaryotes;Major pathway of rRNA processing in the nucleolus and cytosol PE1 7 +NX_Q9NW15 Anoctamin-10 660 76329 7.1 8 Cytoplasmic vesicle;Cell membrane Spinocerebellar ataxia, autosomal recessive, 10 Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1. NA Belongs to the anoctamin family. Stimuli-sensing channels PE1 3 +NX_Q9NW38 E3 ubiquitin-protein ligase FANCL 375 42905 6.02 0 Cytoplasm;Nucleus;Cytoplasmic vesicle Fanconi anemia complementation group L Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway (PubMed:12973351, PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:24389026). Also mediates monoubiquitination of FANCI (PubMed:19589784). May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth. The RING-type zinc finger domain is monoubiquitinated in the presence of UBE2T and UBE2W. NA Protein modification; protein ubiquitination.;Fanconi anemia pathway;Ubiquitin mediated proteolysis;Fanconi Anemia Pathway PE1 2 +NX_Q9NW61 Pleckstrin homology domain-containing family J member 1 149 17551 7.69 0 Mitochondrion NA NA NA NA NA PE1 19 +NX_Q9NW64 Pre-mRNA-splicing factor RBM22 420 46896 8.83 0 Nucleoplasm;Cytoplasm;Nucleus NA Required for pre-mRNA splicing as component of the activated spliceosome (PubMed:28502770, PubMed:28076346, PubMed:29361316, PubMed:29360106, PubMed:29301961, PubMed:30705154). Involved in the first step of pre-mRNA splicing. Binds directly to the internal stem-loop (ISL) domain of the U6 snRNA and to the pre-mRNA intron near the 5' splice site during the activation and catalytic phases of the spliceosome cycle. Involved in both translocations of the nuclear SLU7 to the cytoplasm and the cytosolic calcium-binding protein PDCD6 to the nucleus upon cellular stress responses. NA Belongs to the SLT11 family. Spliceosome;mRNA Splicing - Major Pathway PE1 5 +NX_Q9NW68 BSD domain-containing protein 1 430 47163 4.43 0 Golgi apparatus;Cell membrane NA NA NA NA NA PE1 1 +NX_Q9NW75 G patch domain-containing protein 2 528 58944 9.2 0 Nucleus speckle;Nucleolus NA Enhances the ATPase activity of DHX15 in vitro. NA NA NA PE1 1 +NX_Q9NW81 Distal membrane-arm assembly complex protein 2 257 29267 6 0 Mitochondrion NA Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I. NA Belongs to the ATP synthase subunit s family. NA PE1 19 +NX_Q9NW82 WD repeat-containing protein 70 654 73201 5.94 0 Cytosol;Mitochondrion NA NA NA Belongs to the WD repeat GAD-1 family. NA PE1 5 +NX_Q9NW97 Transmembrane protein 51 253 27759 5.4 2 Membrane;Nucleoplasm;Cytosol NA NA NA NA NA PE1 1 +NX_Q9NWA0 Mediator of RNA polymerase II transcription subunit 9 146 16403 6.84 0 Midbody;Nucleoplasm;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 9 family. PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 17 +NX_Q9NWB1 RNA binding protein fox-1 homolog 1 397 42784 6.37 0 Cytoplasm;Nucleus NA RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis. NA NA MECP2 regulates transcription factors PE1 16 +NX_Q9NWB6 Arginine and glutamate-rich protein 1 273 33216 10.35 0 Nucleoplasm;Cytosol;Mitochondrion;Nucleus NA Required for the estrogen-dependent expression of ESR1 target genes. Can act in cooperation with MED1. NA Belongs to the UPF0430 family. NA PE1 13 +NX_Q9NWB7 Intraflagellar transport protein 57 homolog 429 49108 4.93 0 Cytosol;Nucleus speckle;Cilium basal body;Mitochondrion Orofaciodigital syndrome 18 Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being required for all activity of the hedgehog pathway (By similarity). Has pro-apoptotic function via its interaction with HIP1, leading to recruit caspase-8 (CASP8) and trigger apoptosis. Has the ability to bind DNA sequence motif 5'-AAAGACATG-3' present in the promoter of caspase genes such as CASP1, CASP8 and CASP10, suggesting that it may act as a transcription regulator; however the relevance of such function remains unclear. NA Belongs to the IFT57 family. Huntington's disease;Intraflagellar transport;Hedgehog 'off' state PE1 3 +NX_Q9NWC5 Transmembrane protein 45A 275 31680 7.13 5 Endoplasmic reticulum;Cytoplasmic vesicle;Membrane NA NA NA Belongs to the TMEM45 family. NA PE1 3 +NX_Q9NWD8 Transmembrane protein 248 314 35052 5.91 4 Membrane;Cytoplasmic vesicle NA NA NA Belongs to the TMEM248 family. NA PE1 7 +NX_Q9NWD9 Protein BEX4 120 14067 5.97 0 Cytoplasm;Nucleoplasm;Spindle pole;Cytosol;Nucleus NA May play a role in microtubule deacetylation by negatively regulating the SIRT2 deacetylase activity toward alpha-tubulin and thereby participate to the control of cell cycle progression and genomic stability. Ubiquitinated and degraded by the proteasome. Belongs to the BEX family. NA PE1 X +NX_Q9NWF4 Solute carrier family 52, riboflavin transporter, member 1 448 46317 5.9 11 Cell membrane Riboflavin deficiency (Microbial infection) May function as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).;Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:18632736, PubMed:20463145). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145). NA Belongs to the riboflavin transporter family. Vitamin B2 (riboflavin) metabolism PE1 17 +NX_Q9NWF9 E3 ubiquitin-protein ligase RNF216 866 99406 4.83 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Gordon Holmes syndrome Inhibits TNF and IL-1 mediated activation of NF-kappa-B. Promotes TNF and RIP mediated apoptosis.;Acts as an E3 ubiquitin ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Promotes degradation of TRAF3, TLR4 and TLR9. Contributes to the regulation of antiviral responses. Down-regulates activation of NF-kappa-B, IRF3 activation and IFNB production. Auto-ubiquitinated. NA Protein modification; protein ubiquitination.;Negative regulators of DDX58/IFIH1 signaling PE1 7 +NX_Q9NWH2 Transmembrane protein 242 141 14758 9.17 2 Membrane NA NA NA Belongs to the TMEM242 family. NA PE1 6 +NX_Q9NWH7 Spermatogenesis-associated protein 6 488 55989 8.8 0 Golgi apparatus;Secreted;Nucleoplasm;Flagellum;Cytoplasmic vesicle NA Required for formation of the sperm connecting piece during spermiogenesis. Sperm connecting piece is essential for linking the developing flagellum to the head during late spermiogenesis. May be involved in myosin-based microfilament transport through interaction with myosin subunits. NA Belongs to the SPATA6 family. NA PE1 1 +NX_Q9NWH9 SAFB-like transcription modulator 1034 117148 7.69 0 Nucleoplasm;Nucleus NA When overexpressed, acts as a general inhibitor of transcription that eventually leads to apoptosis. NA NA NA PE1 15 +NX_Q9NWK9 Box C/D snoRNA protein 1 470 53918 5.62 0 Cytoplasmic vesicle;Nucleus speckle NA Required for box C/D snoRNAs accumulation involved in snoRNA processing, snoRNA transport to the nucleolus and ribosome biogenesis. NA Belongs to the BCD1 family. NA PE1 1 +NX_Q9NWL6 Asparagine synthetase domain-containing protein 1 643 72080 6.4 0 Cytosol NA NA NA NA NA PE1 2 +NX_Q9NWM0 Spermine oxidase 555 61819 5.29 0 Cytoplasm;Nucleus membrane;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA Flavoenzyme which catalyzes the oxidation of spermine to spermidine. Can also use N(1)-acetylspermine and spermidine as substrates, with different affinity depending on the isoform (isozyme) and on the experimental conditions. Plays an important role in the regulation of polyamine intracellular concentration and has the potential to act as a determinant of cellular sensitivity to the antitumor polyamine analogs. May contribute to beta-alanine production via aldehyde dehydrogenase conversion of 3-amino-propanal. NA Belongs to the flavin monoamine oxidase family. Amine and polyamine degradation; spermine degradation.;PAOs oxidise polyamines to amines;Interconversion of polyamines PE1 20 +NX_Q9NWM3 CUE domain-containing protein 1 386 42258 5.48 0 Cytosol;Centrosome;Cell membrane NA NA NA NA NA PE1 17 +NX_Q9NWM8 Peptidyl-prolyl cis-trans isomerase FKBP14 211 24172 5.7 0 Nucleoplasm;Golgi apparatus;Cytosol;Endoplasmic reticulum lumen Ehlers-Danlos syndrome, kyphoscoliotic type, 2 PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4-hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens. NA NA XBP1(S) activates chaperone genes PE1 7 +NX_Q9NWN3 F-box only protein 34 711 78711 8.32 0 Nucleus speckle NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA NA NA PE1 14 +NX_Q9NWQ4 G patch domain-containing protein 2-like 482 54260 8.77 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 14 +NX_Q9NWQ8 Phosphoprotein associated with glycosphingolipid-enriched microdomains 1 432 46981 4.57 1 Cytoplasmic vesicle;Cell membrane NA Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Promotes CSK activation and recruitment to lipid rafts, which results in LCK inhibition. Inhibits immunological synapse formation by preventing dynamic arrangement of lipid raft proteins. May be involved in cell adhesion signaling. Palmitoylated.;Phosphorylated by FYN on Tyr-317 in resting T-cells; which promotes interaction with CSK. Dephosphorylated by PTPRC/CD45 upon TCR activation; which leads to CSK dissociation. May also be dephosphorylated by PTPN11. Hyperphosphorylated in mast cells upon FCER1 activation. Phosphorylated by LYN. NA Phosphorylation of CD3 and TCR zeta chains;GAB1 signalosome PE1 8 +NX_Q9NWQ9 Uncharacterized protein C14orf119 140 16009 4.89 0 Cytosol;Mitochondrion NA NA NA NA NA PE1 14 +NX_Q9NWR8 Calcium uniporter regulatory subunit MCUb, mitochondrial 336 39082 9.23 2 Cytoplasmic vesicle;Nucleoplasm;Mitochondrion inner membrane;Mitochondrion NA Negatively regulates the activity of MCU, the mitochondrial inner membrane calcium uniporter, and thereby modulates calcium uptake into the mitochondrion. Does not form functional calcium channels by itself. Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways. NA Belongs to the MCU (TC 1.A.77) family. Processing of SMDT1;Mitochondrial calcium ion transport PE1 4 +NX_Q9NWS0 PIH1 domain-containing protein 1 290 32363 5.05 0 Cytosol;Nucleus NA Involved in the assembly of C/D box small nucleolar ribonucleoprotein (snoRNP) particles (PubMed:17636026). Recruits the SWI/SNF complex to the core promoter of rRNA genes and enhances pre-rRNA transcription (PubMed:22368283, PubMed:24036451). Mediates interaction of TELO2 with the R2TP complex which is necessary for the stability of MTOR and SMG1 (PubMed:20864032). Positively regulates the assembly and activity of the mTORC1 complex (PubMed:24036451). NA Belongs to the PIH1 family. NA PE1 19 +NX_Q9NWS1 PCNA-interacting partner 579 65054 8.96 0 Cytoplasm;Nucleoplasm;Nucleus NA Required to suppress inappropriate homologous recombination, thereby playing a central role DNA repair and in the maintenance of genomic stability. Antagonizes homologous recombination by interfering with the formation of the RAD51-DNA homologous recombination structure. Binds single-strand DNA and poly(A) homopolymers. Positively regulate the poly(ADP-ribosyl)ation activity of PARP1; however such function may be indirect. NA Belongs to the PARI family. NA PE1 12 +NX_Q9NWS6 Protein FAM118A 357 40269 5.7 1 Membrane;Cytosol;Cytoskeleton NA NA NA Belongs to the FAM118 family. NA PE1 22 +NX_Q9NWS8 Required for meiotic nuclear division protein 1 homolog 449 51604 8.88 0 Mitochondrion Combined oxidative phosphorylation deficiency 11 Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome (PubMed:23022098, PubMed:25604853). NA Belongs to the RMD1/sif2 family. NA PE1 6 +NX_Q9NWS9 Zinc finger protein 446 450 48957 5.72 0 Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9NWT1 p21-activated protein kinase-interacting protein 1 392 43964 9.07 0 Nucleolus NA Negatively regulates the PAK1 kinase. PAK1 is a member of the PAK kinase family, which has been shown to play a positive role in the regulation of signaling pathways involving MAPK8 and RELA. PAK1 exists as an inactive homodimer, which is activated by binding of small GTPases such as CDC42 to an N-terminal regulatory domain. PAK1IP1 also binds to the N-terminus of PAK1, and inhibits the specific activation of PAK1 by CDC42. May be involved in ribosomal large subunit assembly (PubMed:24120868). NA NA NA PE1 6 +NX_Q9NWT6 Hypoxia-inducible factor 1-alpha inhibitor 349 40285 5.39 0 Cytoplasm;Nucleoplasm;Cytosol;Perinuclear region;Nucleus NA Hydroxylates HIF-1 alpha at 'Asn-803' in the C-terminal transactivation domain (CAD). Functions as an oxygen sensor and, under normoxic conditions, the hydroxylation prevents interaction of HIF-1 with transcriptional coactivators including Cbp/p300-interacting transactivator. Involved in transcriptional repression through interaction with HIF1A, VHL and histone deacetylases. Hydroxylates specific Asn residues within ankyrin repeat domains (ARD) of NFKB1, NFKBIA, NOTCH1, ASB4, PPP1R12A and several other ARD-containing proteins. Also hydroxylates Asp and His residues within ARDs of ANK1 and TNKS2, respectively. Negatively regulates NOTCH1 activity, accelerating myogenic differentiation. Positively regulates ASB4 activity, promoting vascular differentiation. NA NA Cellular response to hypoxia PE1 10 +NX_Q9NWT8 Aurora kinase A-interacting protein 199 22354 10.76 0 Nucleoplasm;Mitochondrion;Nucleus NA May act as a negative regulator of Aurora-A kinase, by down-regulation through proteasome-dependent degradation. NA Belongs to the mitochondrion-specific ribosomal protein mS38 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 1 +NX_Q9NWU1 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial 459 48843 7.59 0 Cytosol;Mitochondrion NA May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for optimal mitochondrial function. NA Belongs to the thiolase-like superfamily. Beta-ketoacyl-ACP synthases family. Lipid metabolism; fatty acid biosynthesis.;Fatty acid biosynthesis;Metabolic pathways PE1 3 +NX_Q9NWU2 Glucose-induced degradation protein 8 homolog 228 26749 4.92 0 Cytoplasm;Nucleoplasm;Cell junction;Nucleus NA Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Acts as a positive regulator of Wnt signaling pathway by promoting beta-catenin (CTNNB1) nuclear accumulation (PubMed:28829046). Polyubiquitinated through 'Lys-48'-polyubiquitin chains, leading to proteasomal degradation in the absence of Wnt stimulation. Belongs to the GID8 family. NA PE1 20 +NX_Q9NWU5 39S ribosomal protein L22, mitochondrial 206 23641 9.95 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uL22 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 5 +NX_Q9NWV4 CXXC motif containing zinc binding protein 160 18048 4.93 0 Cytoplasmic vesicle;Cytosol;Spindle NA NA NA Belongs to the UPF0587 family. NA PE1 1 +NX_Q9NWV8 BRISC and BRCA1-A complex member 1 329 36560 4.6 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. In the BRCA1-A complex, it is required for the complex integrity and its localization at DSBs. Component of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin in various substrates (PubMed:24075985, PubMed:26195665). In these 2 complexes, it is probably required to maintain the stability of BABAM2 and help the 'Lys-63'-linked deubiquitinase activity mediated by BRCC3/BRCC36 component. The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985). NA Belongs to the BABAM1 family. G2/M DNA damage checkpoint;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Metalloprotease DUBs PE1 19 +NX_Q9NWW0 Host cell factor C1 regulator 1 138 15291 6.83 0 Cytoplasm;Nucleoplasm;Nucleus NA Regulates HCFC1 activity by modulating its subcellular localization. Overexpression of HCFC1R1 leads to accumulation of HCFC1 in the cytoplasm. HCFC1R1-mediated export may provide the pool of cytoplasmic HCFC1 required for import of virion-derived VP16 into the nucleus. NA NA NA PE1 16 +NX_Q9NWW5 Ceroid-lipofuscinosis neuronal protein 6 311 35919 8.94 7 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleolus;Cytoplasmic vesicle Ceroid lipofuscinosis, neuronal, 6;Ceroid lipofuscinosis, neuronal, 4A NA NA NA NA PE1 15 +NX_Q9NWW6 Nicotinamide riboside kinase 1 199 23193 4.82 0 Nucleoplasm;Cytosol NA Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). The enzyme also phosphorylates the antitumor drugs tiazofurin and 3-deazaguanosine. NA Belongs to the uridine kinase family. NRK subfamily. Cofactor biosynthesis; NAD(+) biosynthesis.;Nicotinate and nicotinamide metabolism;Nicotinate metabolism PE1 9 +NX_Q9NWW7 Uncharacterized protein C2orf42 574 64077 9.15 0 Nucleoplasm NA NA NA NA NA PE1 2 +NX_Q9NWW9 Phospholipase A and acyltransferase 2 162 17394 9.3 1 Membrane;Cytoplasm NA Exhibits both phospholipase A1/2 and acyltransferase activities (PubMed:19615464, PubMed:22825852, PubMed:22605381, PubMed:26503625). Shows phospholipase A1 (PLA1) and A2 (PLA2) activity, catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids (PubMed:19615464, PubMed:22825852, PubMed:22605381). For most substrates, PLA1 activity is much higher than PLA2 activity (PubMed:19615464). Shows O-acyltransferase activity, catalyzing the transfer of a fatty acyl group from glycerophospholipid to the hydroxyl group of lysophospholipid (PubMed:19615464). Shows N-acyltransferase activity, catalyzing the calcium-independent transfer of a fatty acyl group at the sn-1 position of phosphatidylcholine (PC) and other glycerophospholipids to the primary amine of phosphatidylethanolamine (PE), forming N-acylphosphatidylethanolamine (NAPE), which serves as precursor for N-acylethanolamines (NAEs) (PubMed:19615464, PubMed:22825852, PubMed:22605381). Catalyzes N-acylation of PE using both sn-1 and sn-2 palmitoyl groups of PC as acyl donor (PubMed:22605381). Exhibits high phospholipase A1/2 activity and low N-acyltransferase activity (PubMed:22825852). NA Belongs to the H-rev107 family. Acyl chain remodelling of PE PE1 11 +NX_Q9NWX5 Ankyrin repeat and SOCS box protein 6 421 47136 5.62 0 Cytoplasm NA Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 9 +NX_Q9NWX6 Probable tRNA(His) guanylyltransferase 298 34831 8.12 0 Cytoplasm;Mitochondrion NA Adds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis. NA Belongs to the tRNA(His) guanylyltransferase family. tRNA modification in the nucleus and cytosol PE1 5 +NX_Q9NWY4 Histone PARylation factor 1 346 39436 6.34 0 Nucleus NA Acts as a cofactor for serine ADP-ribosylation by conferring serine specificity on PARP1 and PARP2: interacts with PARP1 and PARP2 and is able to change amino acid specificity toward serine (PubMed:28190768, PubMed:29480802). Promotes histone serine ADP-ribosylation in response to DNA damage, limiting DNA damage-induced PARP1 hyper-automodification, and ensuring genome stability (PubMed:27067600, PubMed:28190768). Serine ADP-ribosylation of proteins constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage (PubMed:29480802). HPF1 also promotes tyrosine ADP-ribosylation, probably by conferring tyrosine specificity on PARP1 (PubMed:30257210). NA Belongs to the HPF1 family. NA PE1 4 +NX_Q9NWZ3 Interleukin-1 receptor-associated kinase 4 460 51530 5.24 0 Cytoplasm;Cytosol;Nucleolus;Cytoskeleton Recurrent isolated invasive pneumococcal disease 1;IRAK4 deficiency Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways (PubMed:17878374). Is rapidly recruited by MYD88 to the receptor-signaling complex upon TLR activation to form the Myddosome together with IRAK2. Phosphorylates initially IRAK1, thus stimulating the kinase activity and intensive autophosphorylation of IRAK1. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquitination of IRAK1. Then, the ubiquitin-binding domain of IKBKG/NEMO binds to polyubiquitinated IRAK1 bringing together the IRAK1-MAP3K7/TAK1-TRAF6 complex and the NEMO-IKKA-IKKB complex. In turn, MAP3K7/TAK1 activates IKKs (CHUK/IKKA and IKBKB/IKKB) leading to NF-kappa-B nuclear translocation and activation. Alternatively, phosphorylates TIRAP to promote its ubiquitination and subsequent degradation. Phosphorylates NCF1 and regulates NADPH oxidase activation after LPS stimulation suggesting a similar mechanism during microbial infections. Phosphorylated.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Pelle subfamily. Apoptosis;Toll-like receptor signaling pathway;Neurotrophin signaling pathway;Pertussis;Leishmaniasis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Tuberculosis;Measles;Influenza A;PIP3 activates AKT signaling;MyD88:MAL(TIRAP) cascade initiated on plasma membrane;IRAK4 deficiency (TLR5);IRAK4 deficiency (TLR2/4);TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;MyD88 dependent cascade initiated on endosome;MyD88 cascade initiated on plasma membrane;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Interleukin-1 signaling PE1 12 +NX_Q9NWZ5 Uridine-cytidine kinase-like 1 548 61141 6.93 0 Endoplasmic reticulum;Cytoplasm;Nucleus NA May contribute to UTP accumulation needed for blast transformation and proliferation. Ubiquitinated by RNF19B; which induces proteasomal degradation. Belongs to the uridine kinase family. Pyrimidine metabolism; CTP biosynthesis via salvage pathway; CTP from cytidine: step 1/3.;Pyrimidine metabolism; UMP biosynthesis via salvage pathway; UMP from uridine: step 1/1.;Pyrimidine metabolism;Drug metabolism - other enzymes;Metabolic pathways;Pyrimidine salvage PE1 20 +NX_Q9NWZ8 Gem-associated protein 8 242 28637 6.31 0 Nucleoplasm;Cytoplasm;Gem;Cytosol NA The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. NA NA RNA transport;snRNP Assembly PE1 X +NX_Q9NX00 Transmembrane protein 160 188 19658 7.84 3 Membrane NA NA NA Belongs to the TMEM160 family. NA PE1 19 +NX_Q9NX01 Thioredoxin-like protein 4B 149 17015 5.63 0 Nucleoplasm;Cytosol;Nucleus NA Essential role in pre-mRNA splicing. Required in cell cycle progression for S/G(2) transition. NA Belongs to the DIM1 family. NA PE1 16 +NX_Q9NX02 NACHT, LRR and PYD domains-containing protein 2 1062 120515 5.74 0 Golgi apparatus;Cytoplasm;Cytosol;Cytoplasmic vesicle NA Suppresses TNF- and CD40-induced NFKB1 activity at the level of the IKK complex, by inhibiting NFKBIA degradation induced by TNF. When associated with PYCARD, activates CASP1, leading to the secretion of mature proinflammatory cytokine IL1B. May be a component of the inflammasome, a protein complex which also includes PYCARD, CARD8 and CASP1 and whose function would be the activation of proinflammatory caspases. NA Belongs to the NLRP family. NA PE1 19 +NX_Q9NX04 Uncharacterized protein C1orf109 203 23373 5.47 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA May promote cancer cell proliferation by controlling the G1 to S phase transition. Phosphorylated on serines by CK2 kinase. NA NA PE1 1 +NX_Q9NX05 Constitutive coactivator of PPAR-gamma-like protein 2 1096 120588 9.19 0 Nucleus speckle NA NA NA Belongs to the constitutive coactivator of PPAR-gamma family. NA PE1 X +NX_Q9NX07 tRNA selenocysteine 1-associated protein 1 287 32499 4.61 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Involved in the early steps of selenocysteine biosynthesis and tRNA(Sec) charging to the later steps resulting in the cotranslational incorporation of selenocysteine into selenoproteins. Stabilizes the SECISBP2, EEFSEC and tRNA(Sec) complex. May be involved in the methylation of tRNA(Sec). Enhances efficiency of selenoproteins synthesis (By similarity). NA Belongs to the RRM TRSPAP family. NA PE1 1 +NX_Q9NX08 COMM domain-containing protein 8 183 21090 5.3 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966). NA NA Neddylation PE1 4 +NX_Q9NX09 DNA damage-inducible transcript 4 protein 232 25371 4.87 0 Cytoplasm;Cytosol;Mitochondrion;Nucleus NA Regulates cell growth, proliferation and survival via inhibition of the activity of the mammalian target of rapamycin complex 1 (mTORC1). Inhibition of mTORC1 is mediated by a pathway that involves DDIT4/REDD1, AKT1, the TSC1-TSC2 complex and the GTPase RHEB. Plays an important role in responses to cellular energy levels and cellular stress, including responses to hypoxia and DNA damage. Regulates p53/TP53-mediated apoptosis in response to DNA damage via its effect on mTORC1 activity. Its role in the response to hypoxia depends on the cell type; it mediates mTORC1 inhibition in fibroblasts and thymocytes, but not in hepatocytes (By similarity). Required for mTORC1-mediated defense against viral protein synthesis and virus replication (By similarity). Inhibits neuronal differentiation and neurite outgrowth mediated by NGF via its effect on mTORC1 activity. Required for normal neuron migration during embryonic brain development. Plays a role in neuronal cell death. Phosphorylated by GSK3B; this promotes proteasomal degradation.;Polyubiquitinated by a DCX (DDB1-CUL4A-RBX1) E3 ubiquitin-protein ligase complex with BTRC as substrate-recognition component, leading to its proteasomal degradation. Belongs to the DDIT4 family. mTOR signaling pathway;TP53 Regulates Metabolic Genes PE1 10 +NX_Q9NX14 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial 153 17317 5.17 1 Mitochondrion inner membrane;Mitochondrion Linear skin defects with multiple congenital anomalies 3;Mitochondrial complex I deficiency, nuclear type 30 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFB11 subunit family. Oxidative phosphorylation;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 X +NX_Q9NX18 Succinate dehydrogenase assembly factor 2, mitochondrial 166 19599 6.33 0 Mitochondrion matrix;Mitochondrion;Nucleolus;Cytosol Paragangliomas 2 Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Required for flavinylation (covalent attachment of FAD) of the flavoprotein subunit SDHA of the SDH catalytic dimer. NA Belongs to the SDHAF2 family. NA PE1 11 +NX_Q9NX20 39S ribosomal protein L16, mitochondrial 251 28449 10.13 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uL16 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 11 +NX_Q9NX24 H/ACA ribonucleoprotein complex subunit 2 153 17201 8.48 0 Cajal body;Nucleoplasm;Cytosol;Nucleolus Dyskeratosis congenita, autosomal recessive, 2 Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme. NA Belongs to the eukaryotic ribosomal protein eL8 family. Ribosome biogenesis in eukaryotes;Telomere Extension By Telomerase;rRNA modification in the nucleus and cytosol PE1 5 +NX_Q9NX31 Oxidative stress-responsive serine-rich protein 1 292 31779 8.74 0 Nucleus speckle;Nucleolus NA NA NA NA NA PE1 20 +NX_Q9NX36 DnaJ homolog subfamily C member 28 388 45806 9.57 0 NA NA May have a role in protein folding or as a chaperone. NA NA NA PE1 21 +NX_Q9NX38 Protein Abitram 181 20378 8.12 0 Nucleus speckle;Growth cone;Nucleoplasm;Lamellipodium;Cytosol;Dendrite;Nucleus;Cytoskeleton NA Actin-binding protein that regulates actin polymerization, filopodia dynamics and increases the branching of proximal dendrites of developing neurons. NA Belongs to the ABITRAM family. NA PE1 9 +NX_Q9NX40 OCIA domain-containing protein 1 245 27626 7.02 0 Endosome;Mitochondrion NA Maintains stem cell potency (By similarity). Increases STAT3 phosphorylation and controls ERK phosphorylation (By similarity). May act as a scaffold, increasing STAT3 recruitment onto endosomes (By similarity). Involved in integrin-mediated cancer cell adhesion and colony formation in ovarian cancer (PubMed:20515946). NA Belongs to the OCIAD1 family. NA PE1 4 +NX_Q9NX45 Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2 425 46941 6.79 0 Cytoplasm;Nucleus;Cytoplasmic vesicle NA Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation without affecting meiosis I (By similarity). NA NA NA PE1 13 +NX_Q9NX46 ADP-ribose glycohydrolase ARH3 363 38947 4.95 0 Cytoplasm;Mitochondrion matrix;Chromosome;Nucleoplasm;Nucleus Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures ADP-ribose glycohydrolase that preferentially hydrolyzes the scissile alpha-O-linkage attached to the anomeric C1'' position of ADP-ribose and acts on different substrates, such as proteins ADP-ribosylated on serine, free poly(ADP-ribose) and O-acetyl-ADP-D-ribose (PubMed:21498885, PubMed:30045870, PubMed:29907568, PubMed:30401461). Specifically acts as a serine mono-ADP-ribosylhydrolase by mediating the removal of mono-ADP-ribose attached to serine residues on proteins, thereby playing a key role in DNA damage response (PubMed:28650317, PubMed:29234005, PubMed:30045870). Serine ADP-ribosylation of proteins constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage (PubMed:29480802). Does not hydrolyze ADP-ribosyl-arginine, -cysteine, -diphthamide, or -asparagine bonds (PubMed:16278211). Also able to degrade protein free poly(ADP-ribose), which is synthesized in response to DNA damage: free poly(ADP-ribose) acts as a potent cell death signal and its degradation by ADPRHL2 protects cells from poly(ADP-ribose)-dependent cell death, a process named parthanatos (PubMed:16278211). Also hydrolyzes free poly(ADP-ribose) in mitochondria (PubMed:22433848). Specifically digests O-acetyl-ADP-D-ribose, a product of deacetylation reactions catalyzed by sirtuins (PubMed:17075046, PubMed:21498885). Specifically degrades 1''-O-acetyl-ADP-D-ribose isomer, rather than 2''-O-acetyl-ADP-D-ribose or 3''-O-acetyl-ADP-D-ribose isomers (PubMed:21498885). NA Belongs to the ADP-ribosylglycohydrolase family. POLB-Dependent Long Patch Base Excision Repair PE1 1 +NX_Q9NX47 E3 ubiquitin-protein ligase MARCH5 278 31232 9 4 Mitochondrion outer membrane;Endoplasmic reticulum membrane;Mitochondrion NA Mitochondrial E3 ubiquitin-protein ligase that plays a crucial role in the control of mitochondrial morphology by acting as a positive regulator of mitochondrial fission. May play a role in the prevention of cell senescence acting as a regulator of mitochondrial quality control. Promotes ubiquitination of FIS1, DNM1L and MFN1. Autoubiquitinated leading to degradation (short half-life). NA Protein modification; protein ubiquitination. PE1 10 +NX_Q9NX52 Rhomboid-related protein 2 303 34021 6.61 7 Cell membrane NA Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Known substrate: EFNB3. Proteolytic processing of the proenzyme produces a N-terminal fragment (NTF) and a C-terminal fragment (CTF). The processing is required for activation of the protease. Belongs to the peptidase S54 family. NA PE1 1 +NX_Q9NX55 Huntingtin-interacting protein K 129 14665 4.9 0 Cytoplasm;Nucleoplasm;Nucleus;Cytoskeleton NA Has a chaperone-like activity preventing polyglutamine (polyQ) aggregation of HTT. Protects against HTT polyQ-mediated apoptosis in Neuro2a neuronal cells. Required for optimal NAA10-NAA15 complex-mediated N-terminal acetylation. NA NA NA PE1 15 +NX_Q9NX57 Ras-related protein Rab-20 234 26277 6.12 0 Golgi apparatus;Cytoplasmic vesicle;Phagosome membrane;Phagosome NA Plays a role in apical endocytosis/recycling. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes. NA Belongs to the small GTPase superfamily. Rab family. RAB geranylgeranylation PE1 13 +NX_Q9NX58 Cell growth-regulating nucleolar protein 379 43615 9.57 0 Cytoplasm;Photoreceptor outer segment;Nucleolus;Nucleoplasm;Nucleus NA Plays a role in the maintenance of the appropriate processing of 47S/45S pre-rRNA to 32S/30S pre-rRNAs and their subsequent processing to produce 18S and 28S rRNAs (PubMed:24495227). Also acts at the level of transcription regulation. Along with PRMT5, binds the gamma-globin (HBG1/HBG2) promoter and represses its expression (PubMed:25092918). In neuroblastoma cells, may also repress the expression of oxidative stress genes, including CHAC1, HMOX1, SLC7A11, ULBP1 and SNORD41 that encodes a small nucleolar RNA (PubMed:28686580). Preferentially binds to a DNA motif containing 5'-GGTTAT-3' (PubMed:25092918). Negatively regulates the antiviral innate immune response by targeting IRF3 and impairing its DNA-binding activity (PubMed:31413131). In addition, inhibits NF-kappa-B-mediated expression of proinflammatory cytokines (PubMed:31413131). Stimulates phagocytosis of photoreceptor outer segments by retinal pigment epithelial cells (By similarity). Prevents nucleolin/NCL self-cleavage, maintaining a normal steady-state level of NCL protein in undifferentiated embryonic stem cells (ESCs), which in turn is essential for ESC self-renewal (By similarity). NA NA NA PE1 4 +NX_Q9NX61 Transmembrane protein 161A 479 53602 8.75 8 Membrane;Cytosol NA May play a role in protection against oxidative stress. Overexpression leads to reduced levels of oxidant-induced DNA damage and apoptosis. NA Belongs to the TMEM161 family. NA PE1 19 +NX_Q9NX62 Inositol monophosphatase 3 359 38681 6.38 1 Golgi apparatus;Nucleoplasm;Cytosol;trans-Golgi network membrane Chondrodysplasia with joint dislocations, GPAPP type May play a role in the formation of skeletal elements derived through endochondral ossification, possibly by clearing adenosine 3',5'-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan sulfation. Contains N-linked glycan resistant to endoglycosydase H. Belongs to the inositol monophosphatase superfamily. Polyol metabolism; myo-inositol biosynthesis; myo-inositol from D-glucose 6-phosphate: step 2/2.;Cytosolic sulfonation of small molecules PE1 8 +NX_Q9NX63 MICOS complex subunit MIC19 227 26152 8.48 0 Cytoplasm;Mitochondrion inner membrane;Mitochondrion;Nucleus NA Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Has also been shown to function as a transcription factor which binds to the BAG1 promoter and represses BAG1 transcription. Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology (PubMed:25781180). NA Belongs to the MICOS complex subunit Mic19 family. Metazoan Mic19 subfamily. Mitochondrial protein import;Cristae formation PE1 7 +NX_Q9NX65 Zinc finger and SCAN domain-containing protein 32 697 78728 8.37 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 16 +NX_Q9NX70 Mediator of RNA polymerase II transcription subunit 29 200 21073 5.86 0 Nucleoplasm;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 29 family. PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 19 +NX_Q9NX74 tRNA-dihydrouridine(20) synthase [NAD(P)+]-like 493 55050 6.74 0 Endoplasmic reticulum;Cytosol;Cytoplasm NA Dihydrouridine synthase. Catalyzes the NADPH-dependent synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs (PubMed:15994936, PubMed:26429968, PubMed:30149704). Negatively regulates the activation of EIF2AK2/PKR (PubMed:18096616). NA Belongs to the Dus family. Dus2 subfamily. tRNA modification in the nucleus and cytosol PE1 16 +NX_Q9NX76 CKLF-like MARVEL transmembrane domain-containing protein 6 183 20419 5.23 4 Early endosome membrane;Cytoplasmic vesicle;Recycling endosome membrane;Cell membrane NA Master regulator of recycling and plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity. Associates with both constitutive and IFNG-induced PD-L1/CD274 at recycling endosomes, where it protects PD-L1/CD274 from being targeted for lysosomal degradation, likely by preventing its STUB1-mediated ubiquitination. May stabilize PD-L1/CD274 expression on antigen presenting cells and potentiates inhibitory signaling by PDCD1/CD279, its receptor on T-cells, ultimately triggering T-cell anergy. NA Belongs to the chemokine-like factor family. Neutrophil degranulation PE1 3 +NX_Q9NX77 Endogenous retrovirus group K member 13-1 Env polyprotein 482 55045 8.96 1 Virion;Cell membrane NA TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).;SU mediates receptor recognition.;Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution (By similarity). Specific enzymatic cleavages in vivo yield the mature SU and TM proteins. Belongs to the beta type-B retroviral envelope protein family. HERV class-II K(HML-4) env subfamily. NA PE2 16 +NX_Q9NX78 Transmembrane protein 260 707 79536 8.67 8 Membrane;Nucleoplasm;Cytosol;Focal adhesion Structural heart defects and renal anomalies syndrome NA NA Belongs to the TMEM260 family. NA PE1 14 +NX_Q9NX94 WW domain binding protein 1-like 342 37828 5.02 1 Membrane;Nucleoplasm;Cytoskeleton NA NA NA NA NA PE1 10 +NX_Q9NX95 Syntabulin 663 72388 5.87 1 Cytoplasmic vesicle;Golgi apparatus membrane;Cytoskeleton NA Part of a kinesin motor-adapter complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development. NA NA NA PE1 8 +NX_Q9NXA8 NAD-dependent protein deacylase sirtuin-5, mitochondrial 310 33881 8.82 0 Cytoplasm;Mitochondrion;Mitochondrion matrix;Mitochondrion intermembrane space;Cytosol;Nucleus NA NAD-dependent lysine demalonylase, desuccinylase and deglutarylase that specifically removes malonyl, succinyl and glutaryl groups on target proteins (PubMed:21908771, PubMed:22076378, PubMed:24703693, PubMed:29180469). Activates CPS1 and contributes to the regulation of blood ammonia levels during prolonged fasting: acts by mediating desuccinylation and deglutarylation of CPS1, thereby increasing CPS1 activity in response to elevated NAD levels during fasting (PubMed:22076378, PubMed:24703693). Activates SOD1 by mediating its desuccinylation, leading to reduced reactive oxygen species (PubMed:24140062). Activates SHMT2 by mediating its desuccinylation (PubMed:29180469). Modulates ketogenesis through the desuccinylation and activation of HMGCS2 (By similarity). Has weak NAD-dependent protein deacetylase activity; however this activity may not be physiologically relevant in vivo. Can deacetylate cytochrome c (CYCS) and a number of other proteins in vitro such as UOX. NA Belongs to the sirtuin family. Class III subfamily. Transcriptional activation of mitochondrial biogenesis PE1 6 +NX_Q9NXB0 Meckel syndrome type 1 protein 559 64528 6.04 0 Centrosome;Cilium basal body Bardet-Biedl syndrome 13;Meckel syndrome 1;Joubert syndrome 28 Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. NA NA Anchoring of the basal body to the plasma membrane;Hedgehog 'off' state PE1 17 +NX_Q9NXB9 Elongation of very long chain fatty acids protein 2 296 34585 9.32 7 Endoplasmic reticulum membrane NA Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA), acting specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. May participate in the production of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. NA Belongs to the ELO family. ELOVL2 subfamily. Lipid metabolism; polyunsaturated fatty acid biosynthesis.;Fatty acid elongation;Biosynthesis of unsaturated fatty acids;Synthesis of very long-chain fatty acyl-CoAs;Linoleic acid (LA) metabolism;alpha-linolenic acid (ALA) metabolism PE1 6 +NX_Q9NXC2 Glucose-fructose oxidoreductase domain-containing protein 1 390 43158 5.63 0 Nucleoplasm;Cytosol;Secreted;Cell membrane NA NA NA Belongs to the Gfo/Idh/MocA family. NA PE1 6 +NX_Q9NXC5 GATOR complex protein MIOS 875 98584 6.29 0 Nucleoplasm;Cytosol;Lysosome membrane NA As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:25457612, PubMed:27487210). NA Belongs to the WD repeat mio family. NA PE1 7 +NX_Q9NXD2 Myotubularin-related protein 10 777 88273 8.78 0 Nucleoplasm;Cytosol;Nucleus NA NA NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Synthesis of PIPs at the early endosome membrane PE1 15 +NX_Q9NXE4 Sphingomyelin phosphodiesterase 4 866 97810 8.5 1 Endoplasmic reticulum membrane;Nucleus membrane;Nucleus envelope;Golgi apparatus membrane;Cytosol NA Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (PubMed:16517606). May sensitize cells to DNA damage-induced apoptosis (PubMed:18505924). NA NA Sphingolipid metabolism;Metabolic pathways;Glycosphingolipid metabolism PE1 2 +NX_Q9NXE8 Pre-mRNA-splicing factor CWC25 homolog 425 49647 10.18 0 Nucleus speckle;Nucleus NA Involved in pre-mRNA splicing as component of the spliceosome. NA Belongs to the CWC25 family. mRNA Splicing - Major Pathway PE1 17 +NX_Q9NXF1 Testis-expressed protein 10 929 105674 9.43 0 Nucleoplasm;Cytoplasm;Nucleolus NA Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (PubMed:22872859). Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit (PubMed:21326211). NA Belongs to the IPI1/TEX10 family. Major pathway of rRNA processing in the nucleolus and cytosol PE1 9 +NX_Q9NXF7 DDB1- and CUL4-associated factor 16 216 24193 5.71 0 Cytosol;Nucleus;Cell membrane NA Functions as a substrate recognition component for CUL4-DDB1 E3 ubiquitin-protein ligase complex, which mediates ubiquitination and proteasome-dependent degradation of nuclear proteins. NA NA Protein modification; protein ubiquitination.;Neddylation PE1 4 +NX_Q9NXF8 Palmitoyltransferase ZDHHC7 308 35140 8.28 4 Golgi apparatus;Nucleoplasm;Golgi apparatus membrane NA Palmitoyltransferase with broad specificity (PubMed:22031296, PubMed:28196865). Palmitoylates JAM3 (PubMed:28196865). Palmitoylates SNAP25 and DLG4/PSD95 (By similarity). Palmitoylates sex steroid hormone receptors, including ESR1, PGR and AR, thereby regulating their targeting to the plasma membrane and their function in rapid intracellular signaling upon binding of sex hormones (PubMed:22031296). May play a role in follicle stimulation hormone (FSH) activation of testicular Sertoli cells (By similarity). Autopalmitoylated. Belongs to the DHHC palmitoyltransferase family. Extra-nuclear estrogen signaling PE1 16 +NX_Q9NXG0 Centlein 1405 161571 8.28 0 Nucleoplasm;Cytosol;Centrosome;Centriole NA Required for centrosome cohesion and recruitment of CEP68 to centrosomes. Phosphorylated directly or indirectly by NEK2. NA NA PE1 9 +NX_Q9NXG2 THUMP domain-containing protein 1 353 39315 8.01 0 Cytosol NA Functions as a tRNA-binding adapter to mediate NAT10-dependent tRNA acetylation (PubMed:25653167). NA Belongs to the THUMPD1 family. rRNA modification in the nucleus and cytosol PE1 16 +NX_Q9NXG6 Transmembrane prolyl 4-hydroxylase 502 56661 5.68 1 Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum membrane NA Catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates HIF1A at 'Pro-402' and 'Pro-564'. May function as a cellular oxygen sensor and, under normoxic conditions, may target HIF through the hydroxylation for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Glycosylated. NA NA PE1 3 +NX_Q9NXH3 Protein phosphatase 1 regulatory subunit 14D 145 16508 7.72 0 Cytoplasm NA Inhibitor of PPP1CA. Has inhibitory activity only when phosphorylated, creating a molecular switch for regulating the phosphorylation status of PPP1CA substrates and smooth muscle contraction. Phosphorylated on several residues. Belongs to the PP1 inhibitor family. NA PE1 15 +NX_Q9NXH8 Torsin-4A 423 46914 9.98 1 Membrane;Nucleoplasm NA NA NA Belongs to the ClpA/ClpB family. Torsin subfamily. Platelet degranulation PE1 9 +NX_Q9NXH9 tRNA (guanine(26)-N(2))-dimethyltransferase 659 72234 7.77 0 Nucleoplasm;Cytosol;Cell membrane Intellectual developmental disorder, autosomal recessive 68 Dimethylates a single guanine residue at position 26 of most tRNAs using S-adenosyl-L-methionine as donor of the methyl groups. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. Trm1 family. tRNA modification in the nucleus and cytosol PE1 19 +NX_Q9NXI6 E3 ubiquitin-protein ligase RNF186 227 24145 7.02 2 Endoplasmic reticulum membrane NA E3 ubiquitin protein ligase that is part of an apoptotic signaling pathway activated by endoplasmic reticulum stress (PubMed:23896122). In that process, stimulates the expression of proteins specific of the unfolded protein response (UPR), ubiquitinates BNIP1 and regulates its localization to the mitochondrion and induces calcium release from the endoplasmic reticulum that ultimately leads to cell apoptosis (PubMed:23896122). Polyubiquitinated. 'Lys-29'-linked autoubiquitination leads to proteasomal degradation. NA Protein modification; protein ubiquitination. PE1 1 +NX_Q9NXJ0 Membrane-spanning 4-domains subfamily A member 12 267 28069 6.81 4 Golgi apparatus;Cell membrane;Nucleolus;Membrane;Endoplasmic reticulum;Cytosol NA May be involved in signal transduction as a component of a multimeric receptor complex. NA Belongs to the MS4A family. NA PE1 11 +NX_Q9NXJ5 Pyroglutamyl-peptidase 1 209 23138 5.54 0 Golgi apparatus;Cytoplasm NA Removes 5-oxoproline from various penultimate amino acid residues except L-proline. NA Belongs to the peptidase C15 family. NA PE1 19 +NX_Q9NXK6 Membrane progestin receptor gamma 330 38014 8.6 7 Cytoplasmic vesicle;Cell membrane NA Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432). Seems to act through a G(i) mediated pathway (PubMed:23763432). May be involved in oocyte maturation (PubMed:12601167). NA Belongs to the ADIPOR family. NA PE1 15 +NX_Q9NXK8 F-box/LRR-repeat protein 12 326 37026 9.11 0 Mitochondrion NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Mediates the polyubiquitination and proteasomal degradation of CAMK1 leading to disruption of cyclin D1/CDK4 complex assembly which results in G1 cell cycle arrest in lung epithelia. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 19 +NX_Q9NXL2 Rho guanine nucleotide exchange factor 38 777 89078 5.87 0 Nucleoplasm;Centrosome NA May act as a guanine-nucleotide releasing factor. NA NA Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events PE1 4 +NX_Q9NXL6 SID1 transmembrane family member 1 827 93839 6.95 11 Membrane NA In vitro binds long double-stranded RNA (dsRNA) (500 and 700 base pairs), but not dsRNA shorter than 300 bp. Not involved in RNA autophagy, a process in which RNA is directly imported into lysosomes in an ATP-dependent manner, and degraded. NA Belongs to the SID1 family. NA PE1 3 +NX_Q9NXL9 DNA helicase MCM9 1143 127313 7.87 0 Nucleoplasm;Nucleus;Chromosome Ovarian dysgenesis 4 Component of the MCM8-MCM9 complex, a complex involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross-links (ICLs) by homologous recombination (HR) (PubMed:23401855). Required for DNA resection by the MRE11-RAD50-NBN/NBS1 (MRN) complex by recruiting the MRN complex to the repair site and by promoting the complex nuclease activity (PubMed:26215093). Probably by regulating the localization of the MRN complex, indirectly regulates the recruitment of downstream effector RAD51 to DNA damage sites including DBSs and ICLs (PubMed:23401855). Acts as a helicase in DNA mismatch repair (MMR) following DNA replication errors to unwind the mismatch containing DNA strand (PubMed:26300262). In addition, recruits MLH1, a component of the MMR complex, to chromatin (PubMed:26300262). The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression (PubMed:23401855). Probably by regulating HR, plays a key role during gametogenesis (By similarity). NA Belongs to the MCM family. NA PE1 6 +NX_Q9NXN4 Ganglioside-induced differentiation-associated protein 2 497 56225 5.48 0 Endoplasmic reticulum Spinocerebellar ataxia, autosomal recessive, 27 NA NA Belongs to the GDAP2 family. NA PE1 1 +NX_Q9NXP7 Gypsy retrotransposon integrase-like protein 1 522 59842 8.01 0 Nucleoplasm;Nucleolus NA NA NA NA NA PE1 5 +NX_Q9NXR1 Nuclear distribution protein nudE homolog 1 335 37721 5.09 0 Cleavage furrow;Centrosome;Spindle;Kinetochore;Cytoskeleton Microhydranencephaly;Lissencephaly 4 Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the development of the cerebral cortex. May regulate the production of neurons by controlling the orientation of the mitotic spindle during division of cortical neuronal progenitors of the proliferative ventricular zone of the brain. Orientation of the division plane perpendicular to the layers of the cortex gives rise to two proliferative neuronal progenitors whereas parallel orientation of the division plane yields one proliferative neuronal progenitor and a post-mitotic neuron. A premature shift towards a neuronal fate within the progenitor population may result in an overall reduction in the final number of neurons and an increase in the number of neurons in the deeper layers of the cortex. Phosphorylated in mitosis. Phosphorylated in vitro by CDC2. Phosphorylation at Thr-246 is essential for the G2/M transition (By similarity). Belongs to the nudE family. Separation of Sister Chromatids;Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Recruitment of NuMA to mitotic centrosomes;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;AURKA Activation by TPX2 PE1 16 +NX_Q9NXR5 Ankyrin repeat domain-containing protein 10 420 44768 5.58 0 Cytosol;Cytoskeleton NA NA NA NA NA PE1 13 +NX_Q9NXR7 BRISC and BRCA1-A complex member 2 383 43552 5.53 0 Cytoplasm;Cytosol;Nucleus NA Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX (PubMed:17525341, PubMed:19261746, PubMed:19261749, PubMed:19261748). In the BRCA1-A complex, it acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integrity and modulating the E3 ubiquitin ligase activity of the BRCA1-BARD1 heterodimer (PubMed:21282113, PubMed:19261748). Component of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin in various substrates (PubMed:19214193, PubMed:24075985, PubMed:25283148, PubMed:26195665). Within the BRISC complex, acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integrity (PubMed:21282113). The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). The BRISC complex plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985). May play a role in homeostasis or cellular differentiation in cells of neural, epithelial and germline origins. May also act as a death receptor-associated anti-apoptotic protein, which inhibits the mitochondrial apoptotic pathway. May regulate TNF-alpha signaling through its interactions with TNFRSF1A; however these effects may be indirect (PubMed:15465831). NA Belongs to the BABAM2 family. G2/M DNA damage checkpoint;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;Processing of DNA double-strand break ends;Nonhomologous End-Joining (NHEJ);Metalloprotease DUBs PE1 2 +NX_Q9NXR8 Inhibitor of growth protein 3 418 46743 5.88 0 Nucleoplasm;Nucleus Squamous cell carcinoma of the head and neck Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when directly recruited to sites of DNA damage. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome. NA Belongs to the ING family. HATs acetylate histones PE1 7 +NX_Q9NXS2 Glutaminyl-peptide cyclotransferase-like protein 382 42924 9.84 1 Golgi apparatus;Golgi apparatus membrane NA Responsible for the biosynthesis of pyroglutamyl peptides. NA Belongs to the glutaminyl-peptide cyclotransferase family. NA PE1 19 +NX_Q9NXS3 Kelch-like protein 28 571 64192 5.74 0 Cytosol NA NA NA NA NA PE1 14 +NX_Q9NXT0 Zinc finger protein 586 402 46413 9.14 0 Cytoplasmic vesicle;Nucleolus;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9NXU5 ADP-ribosylation factor-like protein 15 204 22876 5.41 0 Golgi apparatus;Cell junction;Cell membrane NA NA NA Belongs to the small GTPase superfamily. Arf family. NA PE1 5 +NX_Q9NXV2 BTB/POZ domain-containing protein KCTD5 234 26093 5.89 0 Cytoplasm;Cytosol;Nucleus NA Its interaction with CUL3 suggests that it may act as a substrate adapter in some E3 ligase complex (PubMed:18573101). Does not affect the function of Kv channel Kv2.1/KCNB1, Kv1.2/KCNA2, Kv4.2/KCND2 and Kv3.4/KCNC4 (PubMed:19361449). NA NA NA PE1 16 +NX_Q9NXV6 CDKN2A-interacting protein 580 61125 9.13 0 Nucleoplasm NA Regulates DNA damage response in a dose-dependent manner through a number of signaling pathways involved in cell proliferation, apoptosis and senescence. May be ubiquitinated. Belongs to the CARF family. NA PE1 4 +NX_Q9NXW2 DnaJ homolog subfamily B member 12 375 41860 8.81 1 Endoplasmic reticulum;Endoplasmic reticulum membrane;Nucleus membrane NA (Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection (PubMed:21673190, PubMed:24675744).;Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum-associated degradation (ERAD) pathway (PubMed:21150129, PubMed:21148293). Acts by determining HSPA8/Hsc70's ATPase and polypeptide-binding activities. Can also act independently of HSPA8/Hsc70: together with DNAJB14, acts as a chaperone that promotes maturation of potassium channels KCND2 and KCNH2 by stabilizing nascent channel subunits and assembling them into tetramers (PubMed:27916661). While stabilization of nascent channel proteins is dependent on HSPA8/Hsc70, the process of oligomerization of channel subunits is independent of HSPA8/Hsc70 (PubMed:27916661). When overexpressed, forms membranous structures together with DNAJB14 and HSPA8/Hsc70 within the nucleus; the role of these structures, named DJANGOs, is still unclear (PubMed:24732912). NA Belongs to the DnaJ family. DNAJB12/DNAJB14 subfamily. Protein processing in endoplasmic reticulum PE1 10 +NX_Q9NXW9 Alpha-ketoglutarate-dependent dioxygenase alkB homolog 4 302 33838 6.27 0 Midbody;Nucleolus;Cytoplasm;Nucleus NA Dioxygenase that mediates demethylation of actin monomethylated at 'Lys-84' (K84me1), thereby acting as a regulator of actomyosin-processes (PubMed:23673617). Demethylation of actin K84me1 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration (PubMed:23673617). In addition to proteins, also demethylates DNA: specifically demethylates DNA methylated on the 6th position of adenine (N(6)-methyladenosine) DNA, thereby regulating Polycomb silencing (By similarity). NA Belongs to the alkB family. NA PE1 7 +NX_Q9NXX6 Non-structural maintenance of chromosomes element 4 homolog A 385 44301 5.25 0 Cytoplasm;Nucleoplasm;Telomere;Nucleus NA Component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Is involved in positive regulation of response to DNA damage stimulus. NA Belongs to the NSE4 family. SUMOylation of DNA damage response and repair proteins PE1 10 +NX_Q9NXZ1 Sarcoma antigen 1 904 99225 6.02 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 X +NX_Q9NXZ2 Probable ATP-dependent RNA helicase DDX43 648 72844 8.91 0 Cytoplasm;Nucleus NA NA NA Belongs to the DEAD box helicase family. NA PE1 6 +NX_Q9NY12 H/ACA ribonucleoprotein complex subunit 1 217 22348 10.91 0 Cajal body;Nucleoplasm;Nucleolus NA Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme. NA Belongs to the GAR1 family. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol PE1 4 +NX_Q9NY15 Stabilin-1 2570 275482 6.05 1 Membrane;Nucleoplasm;Cytosol;Cell membrane NA Acts as a scavenger receptor for acetylated low density lipoprotein. Binds to both Gram-positive and Gram-negative bacteria and may play a role in defense against bacterial infection. When inhibited in endothelial tube formation assays, there is a marked decrease in cell-cell interactions, suggesting a role in angiogenesis. Involved in the delivery of newly synthesized CHID1/SI-CLP from the biosynthetic compartment to the endosomal/lysosomal system. NA NA Scavenging by Class H Receptors PE1 3 +NX_Q9NY25 C-type lectin domain family 5 member A 188 21521 9.04 1 Cytosol;Cell membrane NA Functions as a positive regulator of osteoclastogenesis (By similarity). Cell surface receptor that signals via TYROBP (PubMed:10449773). Regulates inflammatory responses (By similarity).;(Microbial infection) Critical macrophage receptor for dengue virus serotypes 1-4 (PubMed:18496526, PubMed:21566123). The binding of dengue virus to CLEC5A triggers signaling through the phosphorylation of TYROBP (PubMed:18496526). This interaction does not result in viral entry, but stimulates proinflammatory cytokine release (PubMed:18496526). N-glycosylated. Contains sialic acid residues. NA DAP12 interactions;Neutrophil degranulation PE1 7 +NX_Q9NY26 Zinc transporter ZIP1 324 34250 5.6 8 Endoplasmic reticulum membrane;Cell membrane NA Mediates zinc uptake. May function as a major endogenous zinc uptake transporter in many cells of the body. Responsible for the rapid uptake and accumulation of physiologically effective zinc in prostate cells. NA Belongs to the ZIP transporter (TC 2.A.5) family. Zinc influx into cells by the SLC39 gene family PE1 1 +NX_Q9NY27 Serine/threonine-protein phosphatase 4 regulatory subunit 2 417 46898 4.48 0 Nucleoplasm;Centrosome;Nucleus NA Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C at centrosomal microtubule organizing centers. Its interaction with the SMN complex leads to enhance the temporal localization of snRNPs, suggesting a role of PPP4C in maturation of spliceosomal snRNPs. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AFX phosphorylated on 'Ser-140' (gamma-H2AFX) generated during DNA replication and required for DNA double strand break repair. Mediates RPA2 dephosphorylation by recruiting PPP4C to RPA2 in a DNA damage-dependent manner. RPA2 dephosphorylation is required for the efficient RPA2-mediated recruitment of RAD51 to chromatin following double strand breaks, an essential step for DNA repair. NA Belongs to the PPP4R2 family. Processing of DNA double-strand break ends PE1 3 +NX_Q9NY28 Probable polypeptide N-acetylgalactosaminyltransferase 8 637 72851 9.02 1 Golgi apparatus;Cytoplasmic vesicle;Golgi apparatus membrane NA Probably catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. NA Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 12 +NX_Q9NY30 Protein BTG4 223 25970 8.86 0 Golgi apparatus;Endoplasmic reticulum NA Shows marked antiproliferative activity, being able to induce G(1) arrest. NA Belongs to the BTG family. RNA degradation PE1 11 +NX_Q9NY33 Dipeptidyl peptidase 3 737 82589 5.01 0 Cytosol NA Cleaves and degrades bioactive peptides, including angiotensin, Leu-enkephalin and Met-enkephalin (PubMed:3233187, PubMed:1515063). Also cleaves Arg-Arg-beta-naphthylamide (in vitro) (PubMed:9425109, PubMed:3233187, PubMed:11209758). NA Belongs to the peptidase M49 family. NA PE1 11 +NX_Q9NY35 Claudin domain-containing protein 1 253 28603 5.53 4 Membrane;Nucleoplasm;Cytosol;Nucleolus NA NA NA Belongs to the PMP-22/EMP/MP20 family. NA PE1 3 +NX_Q9NY37 Acid-sensing ion channel 5 505 57464 8.51 2 Cell membrane NA Cation channel that gives rise to very low constitutive currents in the absence of activation. The activated channel exhibits selectivity for sodium, and is inhibited by amiloride. NA Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC5 subfamily. Stimuli-sensing channels PE1 4 +NX_Q9NY43 BarH-like 2 homeobox protein 387 41981 8.67 0 Nucleus NA Potential regulator of neural basic helix-loop-helix genes. NA Belongs to the BAR homeobox family. NA PE1 1 +NX_Q9NY46 Sodium channel protein type 3 subunit alpha 2000 226294 5.6 24 Cell membrane Epilepsy, familial focal, with variable foci 4;Epileptic encephalopathy, early infantile, 62 Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:24157691, PubMed:28235671, PubMed:29466837). May contribute to the regulation of serotonin/5-hydroxytryptamine release by enterochromaffin cells (By similarity). In pancreatic endocrine cells, required for both glucagon and glucose-induced insulin secretion (By similarity). May be ubiquitinated by NEDD4L; which would promote its endocytosis.;Phosphorylation at Ser-1501 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.3/SCN3A subfamily. Interaction between L1 and Ankyrins;Phase 0 - rapid depolarisation PE1 2 +NX_Q9NY47 Voltage-dependent calcium channel subunit alpha-2/delta-2 1150 129817 5.54 1 Membrane;Cytoplasmic vesicle NA The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G). Overexpression induces apoptosis. May be proteolytically processed into subunits alpha-2-2 and delta-2 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role (By similarity). Belongs to the calcium channel subunit alpha-2/delta family. MAPK signaling pathway;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Adrenaline,noradrenaline inhibits insulin secretion;Presynaptic depolarization and calcium channel opening;Regulation of insulin secretion;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 3 +NX_Q9NY56 Odorant-binding protein 2a 170 19318 8.37 0 Secreted NA Probably binds and transports small hydrophobic volatile molecules with a higher affinity for aldehydes and large fatty acids. NA Belongs to the calycin superfamily. Lipocalin family. NA PE1 9 +NX_Q9NY57 Serine/threonine-protein kinase 32B 414 47883 7.63 0 Cytoplasmic vesicle;Cytoskeleton NA NA NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. NA PE1 4 +NX_Q9NY59 Sphingomyelin phosphodiesterase 3 655 71081 5.52 0 Endoplasmic reticulum;Cell membrane;Golgi apparatus membrane NA Catalyzes the hydrolysis of sphingomyelin to form ceramide and phosphocholine. Ceramide mediates numerous cellular functions, such as apoptosis and growth arrest, and is capable of regulating these 2 cellular events independently. Also hydrolyzes sphingosylphosphocholine. Regulates the cell cycle by acting as a growth suppressor in confluent cells. Probably acts as a regulator of postnatal development and participates in bone and dentin mineralization. Palmitoylated, palmitoylation-deficient proteins are targeted for lysosomal degradation. Belongs to the neutral sphingomyelinase family. Lipid metabolism; sphingolipid metabolism.;Sphingolipid metabolism;Metabolic pathways;Glycosphingolipid metabolism;TNFR1-mediated ceramide production PE1 16 +NX_Q9NY61 Protein AATF 560 63133 4.83 0 Nucleoplasm;Nucleolus NA May function as a general inhibitor of the histone deacetylase HDAC1. Binding to the pocket region of RB1 may displace HDAC1 from RB1/E2F complexes, leading to activation of E2F target genes and cell cycle progression. Conversely, displacement of HDAC1 from SP1 bound to the CDKN1A promoter leads to increased expression of this CDK inhibitor and blocks cell cycle progression. Also antagonizes PAWR mediated induction of aberrant amyloid peptide production in Alzheimer disease (presenile and senile dementia), although the molecular basis for this phenomenon has not been described to date. Hyperphosphorylated during the G1/S phase transition.;AATF is phosphorylated by ATR Belongs to the AATF family. NRAGE signals death through JNK PE1 17 +NX_Q9NY64 Solute carrier family 2, facilitated glucose transporter member 8 477 50819 7.55 12 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Cell membrane NA Insulin-regulated facilitative hexose transporter that mediates the transport of glucose and fructose. Also able to mediate the transport of dehydroascorbate. NA Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. Cellular hexose transport;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 9 +NX_Q9NY65 Tubulin alpha-8 chain 449 50094 4.94 0 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 8 Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).;Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable). Belongs to the tubulin family. Phagosome;Gap junction;Pathogenic Escherichia coli infection;Separation of Sister Chromatids;MHC class II antigen presentation;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Kinesins;Formation of tubulin folding intermediates by CCT/TriC;Post-chaperonin tubulin folding pathway;Recycling pathway of L1;Cilium Assembly;Recruitment of NuMA to mitotic centrosomes;Gap junction assembly;Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;RHO GTPases activate IQGAPs;The role of GTSE1 in G2/M progression after G2 checkpoint;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic;HSP90 chaperone cycle for steroid hormone receptors (SHR);Carboxyterminal post-translational modifications of tubulin;Assembly and cell surface presentation of NMDA receptors;Activation of AMPK downstream of NMDARs PE1 22 +NX_Q9NY72 Sodium channel subunit beta-3 215 24702 4.69 1 Golgi apparatus;Cell membrane;Membrane;Cytosol;Cytoskeleton Atrial fibrillation, familial, 16;Brugada syndrome 7 Modulates channel gating kinetics. Causes unique persistent sodium currents. Inactivates the sodium channel opening more slowly than the subunit beta-1. Its association with NFASC may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons (By similarity). NA Belongs to the sodium channel auxiliary subunit SCN3B (TC 8.A.17) family. Interaction between L1 and Ankyrins;Phase 0 - rapid depolarisation PE1 11 +NX_Q9NY74 Ewing's tumor-associated antigen 1 926 103440 7.71 0 Nucleoplasm;Cytosol;Nucleus NA Replication stress response protein that accumulates at DNA damage sites and promotes replication fork progression and integrity (PubMed:27601467, PubMed:27723720, PubMed:27723717). Recruited to stalled replication forks via interaction with the RPA complex and directly stimulates ATR kinase activity independently of TOPBP1 (PubMed:27723720, PubMed:27723717). Probably only regulates a subset of ATR targets (PubMed:27723720, PubMed:27723717). Phosphorylated by ATR. NA NA PE1 2 +NX_Q9NY84 Vascular non-inflammatory molecule 3 501 56118 5.66 0 Cell membrane NA Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine. NA Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family. Post-translational modification: synthesis of GPI-anchored proteins PE2 6 +NX_Q9NY87 Sperm protein associated with the nucleus on the X chromosome C 97 10982 5.22 0 Cytoplasm;Nucleus NA NA NA Belongs to the SPAN-X family. NA PE1 X +NX_Q9NY91 Solute carrier family 5 member 4 659 72456 5.8 11 Cell membrane NA Has electrogenic activity in response to glucose, and may function as a glucose sensor (PubMed:13130073, PubMed:17110502, PubMed:20421923, PubMed:22766068). Mediates influx of sodium ions into the cell but does not transport sugars (PubMed:13130073, PubMed:22766068). Also potently activated by imino sugars such as deoxynojirimycin (DNJ) (PubMed:17110502, PubMed:20421923, PubMed:22766068). NA Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. Cellular hexose transport PE1 22 +NX_Q9NY93 Probable ATP-dependent RNA helicase DDX56 547 61590 9.34 0 Nucleolus;Nucleus NA May play a role in later stages of the processing of the pre-ribosomal particles leading to mature 60S ribosomal subunits. Has intrinsic ATPase activity. NA Belongs to the DEAD box helicase family. DDX56/DBP9 subfamily. NA PE1 7 +NX_Q9NY97 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 397 46022 8.75 1 Cytoplasmic vesicle;Golgi apparatus membrane NA Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Catalyzes the initiation and elongation of poly-N-acetyllactosamine chains. Shows a marked preference for Gal(beta1-4)Glc(NAc)-based acceptors (PubMed:9892646). Probably constitutes the main polylactosamine synthase. NA Belongs to the glycosyltransferase 31 family. Protein modification; protein glycosylation.;Glycosaminoglycan biosynthesis - keratan sulfate;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;O-linked glycosylation of mucins;Keratan sulfate biosynthesis PE1 2 +NX_Q9NY99 Gamma-2-syntrophin 539 60217 7.59 0 Sarcolemma;Cytoskeleton NA Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity). NA Belongs to the syntrophin family. NA PE1 2 +NX_Q9NYA1 Sphingosine kinase 1 384 42518 6.64 0 Cytoplasm;Cell membrane;Endosome membrane;Clathrin-coated pit;Synapse;Cytosol;Nucleus NA Has serine acetyltransferase activity on PTGS2/COX2 in an acetyl-CoA dependent manner. The acetyltransferase activity increases in presence of the kinase substrate, sphingosine. During neuroinflammation, through PTGS2 acetylation, promotes neuronal secretion of specialized preresolving mediators (SPMs), especially 15-R-lipoxin A4, which results in an increase of phagocytic microglia.;Catalyzes the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro-sphingosine and to a lesser extent sphinganine, but not other lipids, such as D,L-threo-dihydrosphingosine, N,N-dimethylsphingosine, diacylglycerol, ceramide, or phosphatidylinositol (PubMed:20577214, PubMed:23602659, PubMed:29662056, PubMed:24929359, PubMed:11923095). In contrast to proapoptotic SPHK2, has a negative effect on intracellular ceramide levels, enhances cell growth and inhibits apoptosis (PubMed:16118219). Involved in the regulation of inflammatory response and neuroinflammation. Via the product sphingosine 1-phosphate, stimulates TRAF2 E3 ubiquitin ligase activity, and promotes activation of NF-kappa-B in response to TNF signaling leading to IL17 secretion (PubMed:20577214). In response to TNF and in parallel to NF-kappa-B activation, negatively regulates RANTES induction through p38 MAPK signaling pathway (PubMed:23935096). Involved in endocytic membrane trafficking induced by sphingosine, recruited to dilate endosomes, also plays a role on later stages of endosomal maturation and membrane fusion independently of its kinase activity (PubMed:28049734, PubMed:24929359). In Purkinje cells, seems to be also involved in the regulation of autophagosome-lysosome fusion upon VEGFA (PubMed:25417698). NA NA Sphingolipid metabolism;Metabolic pathways;Calcium signaling pathway;VEGF signaling pathway;Fc gamma R-mediated phagocytosis;Tuberculosis;Sphingolipid de novo biosynthesis;Association of TriC/CCT with target proteins during biosynthesis;VEGFR2 mediated cell proliferation;Extra-nuclear estrogen signaling PE1 17 +NX_Q9NYA3 Golgin subfamily A member 6A 693 79946 5.34 0 NA NA NA NA Belongs to the GOLGA6 family. NA PE2 15 +NX_Q9NYA4 Myotubularin-related protein 4 1195 133353 5.68 0 Membrane;Cytoplasm NA Dephosphorylates proteins phosphorylated on Ser, Thr, and Tyr residues and low molecular weight phosphatase substrate para-nitrophenylphosphate. Phosphorylates phosphatidylinositol 3,4,5-trisphosphate (PIP3). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Synthesis of PIPs at the early endosome membrane;Synthesis of PIPs at the late endosome membrane;Downregulation of TGF-beta receptor signaling PE1 17 +NX_Q9NYB0 Telomeric repeat-binding factor 2-interacting protein 1 399 44260 4.64 0 Cytoplasm;Chromosome;Nucleoplasm;Telomere;Nucleus NA Acts both as a regulator of telomere function and as a transcription regulator. Involved in the regulation of telomere length and protection as a component of the shelterin complex (telosome). In contrast to other components of the shelterin complex, it is dispensible for telomere capping and does not participate in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair. Instead, it is required to negatively regulate telomere recombination and is essential for repressing homology-directed repair (HDR), which can affect telomere length. Does not bind DNA directly: recruited to telomeric double-stranded 5'-TTAGGG-3' repeats via its interaction with TERF2. Independently of its function in telomeres, also acts as a transcription regulator: recruited to extratelomeric 5'-TTAGGG-3' sites via its association with TERF2 or other factors, and regulates gene expression. When cytoplasmic, associates with the I-kappa-B-kinase (IKK) complex and acts as a regulator of the NF-kappa-B signaling by promoting IKK-mediated phosphorylation of RELA/p65, leading to activate expression of NF-kappa-B target genes. NA Belongs to the RAP1 family. Meiotic synapsis;Packaging Of Telomere Ends;DNA Damage/Telomere Stress Induced Senescence;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Recognition and association of DNA glycosylase with site containing an affected pyrimidine;Cleavage of the damaged pyrimidine PE1 16 +NX_Q9NYB5 Solute carrier organic anion transporter family member 1C1 712 78696 8.82 12 Cell membrane NA Mediates the Na(+)-independent high affinity transport of organic anions such as the thyroid hormones thyroxine (T4) and rT3. Other potential substrates, such as triiodothyronine (T3), 17-beta-glucuronosyl estradiol, estrone-3-sulfate and sulfobromophthalein (BSP) are transported with much lower efficiency. May play a significant role in regulating T4 flux into and out of the brain (By similarity). NA Belongs to the organo anion transporter (TC 2.A.60) family. Transport of organic anions PE2 12 +NX_Q9NYB9 Abl interactor 2 513 55663 5.82 0 Cytoplasm;Adherens junction;Nucleoplasm;Lamellipodium;Filopodium;Cytoplasmic vesicle;Nucleus;Cytoskeleton NA Regulator of actin cytoskeleton dynamics underlying cell motility and adhesion. Functions as a component of the WAVE complex, which activates actin nucleating machinery Arp2/3 to drive lamellipodia formation (PubMed:21107423). Acts as regulator and substrate of nonreceptor tyrosine kinases ABL1 and ABL2 involved in processes linked to cell growth and differentiation. Positively regulates ABL1-mediated phosphorylation of ENAH, which is required for proper polymerization of nucleated actin filaments at the leading edge (PubMed:7590236, PubMed:8649853, PubMed:10498863). Contributes to the regulation of actin assembly at the tips of neuron projections. In particular, controls dendritic spine morphogenesis and may promote dendritic spine specification toward large mushroom-type spines known as repositories of memory in the brain (By similarity). In hippocampal neurons, may mediate actin-dependent BDNF-NTRK2 early endocytic trafficking that triggers dendrite outgrowth (By similarity). Participates in ocular lens morphogenesis, likely by regulating lamellipodia-driven adherens junction formation at the epithelial cell-secondary lens fiber interface (By similarity). Also required for nascent adherens junction assembly in epithelial cells (PubMed:15572692). Phosphorylated by ABL1. Belongs to the ABI family. Regulation of actin cytoskeleton;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;VEGFA-VEGFR2 Pathway PE1 2 +NX_Q9NYC9 Dynein heavy chain 9, axonemal 4486 511877 5.64 0 Cilium axoneme Ciliary dyskinesia, primary, 40 Force generating protein required for cilia beating in respiratory epithelia (PubMed:30471717, PubMed:30471718). Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. NA Belongs to the dynein heavy chain family. NA PE1 17 +NX_Q9NYD6 Homeobox protein Hox-C10 342 38073 8.45 0 Nucleoplasm;Nucleus NA Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. NA Belongs to the Abd-B homeobox family. NA PE1 12 +NX_Q9NYF0 Dapper homolog 1 836 90174 8.93 0 Nucleoplasm;Cytoplasm;Nucleus;Synapse Neural tube defects;Townes-Brocks syndrome 2 Involved in regulation of intracellular signaling pathways during development. Specifically thought to play a role in canonical and/or non-canonical Wnt signaling pathways through interaction with DSH (Dishevelled) family proteins. The activation/inhibition of Wnt signaling may depend on the phosphorylation status. Proposed to regulate the degradation of CTNNB1/beta-catenin, thereby modulating the transcriptional activation of target genes of the Wnt signaling pathway. Its function in stabilizing CTNNB1 may involve inhibition of GSK3B activity. Promotes the membrane localization of CTNNB1. The cytoplasmic form can induce DVL2 degradation via a lysosome-dependent mechanism; the function is inhibited by PKA-induced binding to 14-3-3 proteins, such as YWHAB. Seems to be involved in morphogenesis at the primitive streak by regulating VANGL2 and DVL2; the function seems to be independent of canonical Wnt signaling and rather involves the non-canonical Wnt/planar cell polarity (PCP) pathway (By similarity). The nuclear form may prevent the formation of LEF1:CTNNB1 complex and recruit HDAC1 to LEF1 at target gene promoters to repress transcription thus antagonizing Wnt signaling. May be involved in positive regulation of fat cell differentiation. During neuronal differentiation may be involved in excitatory synapse organization, and dendrite formation and establishment of spines. NA Belongs to the dapper family. Degradation of DVL PE1 14 +NX_Q9NYF3 Protein FAM53C 392 43091 9 0 NA NA NA NA Belongs to the FAM53 family. NA PE1 5 +NX_Q9NYF5 Protein FAM13B 915 104543 4.87 0 Nucleoplasm NA NA NA Belongs to the FAM13 family. Rho GTPase cycle PE1 5 +NX_Q9NYF8 Bcl-2-associated transcription factor 1 920 106122 9.99 0 Cytoplasm;Nucleoplasm;Nucleus speckle;Nucleus NA Death-promoting transcriptional repressor. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. Citrullinated by PADI4. Belongs to the BCLAF1/THRAP3 family. NA PE1 6 +NX_Q9NYG2 Palmitoyltransferase ZDHHC3 299 34170 8.54 4 Golgi apparatus;Golgi apparatus membrane NA Palmitoyltransferase with broad specificity (PubMed:21926431, PubMed:23034182). Palmitoylates GABA receptors on their gamma subunit (GABRG1, GABRG2 and GABRG3), which regulates synaptic clustering and/or cell surface stability (By similarity). Palmitoylates glutamate receptors GRIA1 and GRIA2, which leads to their retention in Golgi. May also palmitoylate DLG4, DNAJC5 and SNAP25 (By similarity). Autopalmitoylated. Belongs to the DHHC palmitoyltransferase family. NA PE1 3 +NX_Q9NYG5 Anaphase-promoting complex subunit 11 84 9841 7.99 0 Nucleoplasm;Nucleolus;Cytoplasm;Nucleus NA Together with the cullin protein ANAPC2, constitutes the catalytic component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. May recruit the E2 ubiquitin-conjugating enzymes to the complex. Auto-ubiquitinated. Belongs to the RING-box family. Protein modification; protein ubiquitination.;Cell cycle;Oocyte meiosis;Ubiquitin mediated proteolysis;Progesterone-mediated oocyte maturation;HTLV-I infection;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;CDK-mediated phosphorylation and removal of Cdc6;Antigen processing: Ubiquitination & Proteasome degradation;Senescence-Associated Secretory Phenotype (SASP);Autodegradation of Cdh1 by Cdh1:APC/C;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of Cyclin B;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;APC/C:Cdc20 mediated degradation of mitotic proteins;Phosphorylation of the APC/C;APC-Cdc20 mediated degradation of Nek2A PE1 17 +NX_Q9NYG8 Potassium channel subfamily K member 4 393 42704 8.91 4 Cell membrane Facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome Voltage-insensitive potassium channel (PubMed:22282805). Channel opening is triggered by mechanical forces that deform the membrane (PubMed:22282805, PubMed:25471887, PubMed:25500157, PubMed:30290154). Channel opening is triggered by raising the intracellular pH to basic levels (By similarity). The channel is inactive at 24 degrees Celsius (in vitro); raising the temperature to 37 degrees Celsius increases the frequency of channel opening, with a further increase in channel activity when the temperature is raised to 42 degrees Celsius (By similarity). Plays a role in the perception of pain caused by heat (By similarity). Plays a role in the sensory perception of pain caused by pressure (By similarity). N-glycosylated. Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. TWIK related potassium channel (TREK);Phase 4 - resting membrane potential PE1 11 +NX_Q9NYH9 U3 small nucleolar RNA-associated protein 6 homolog 597 70194 6.92 0 Nucleolus NA Involved in nucleolar processing of pre-18S ribosomal RNA. NA Belongs to the UTP6 family. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 17 +NX_Q9NYI0 PH and SEC7 domain-containing protein 3 1048 116034 5.68 0 Cell membrane;Nucleoplasm;Postsynaptic density;Ruffle membrane;Cytoplasmic vesicle;Cytosol NA Guanine nucleotide exchange factor for ARF6. NA NA Endocytosis PE1 8 +NX_Q9NYJ1 Cytochrome c oxidase assembly factor 4 homolog, mitochondrial 87 10134 5.65 0 Cytoplasm;Mitochondrion;Nucleolus;Nucleoplasm;Nucleus NA Putative COX assembly factor. NA Belongs to the COA4 family. Mitochondrial protein import PE1 11 +NX_Q9NYJ7 Delta-like protein 3 618 64618 7.86 1 Membrane;Nucleoplasm;Cell membrane Spondylocostal dysostosis 1, autosomal recessive Inhibits primary neurogenesis. May be required to divert neurons along a specific differentiation pathway. Plays a role in the formation of somite boundaries during segmentation of the paraxial mesoderm (By similarity). Ubiquitinated by MIB (MIB1 or MIB2), leading to its endocytosis and subsequent degradation. NA Notch signaling pathway PE1 19 +NX_Q9NYJ8 TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 693 76494 8.8 0 Membrane;Cytosol Congenital heart defects, multiple types, 2 Adapter linking MAP3K7/TAK1 and TRAF6. Promotes MAP3K7 activation in the IL1 signaling pathway. The binding of 'Lys-63'-linked polyubiquitin chains to TAB2 promotes autophosphorylation of MAP3K7 at 'Thr-187'. Involved in heart development. Phosphorylated.;Ubiquitinated; following IL1 stimulation or TRAF6 overexpression. Ubiquitination involves RBCK1 leading to proteasomal degradation. NA MAPK signaling pathway;Osteoclast differentiation;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;Leishmaniasis;Toxoplasmosis;Measles;Herpes simplex infection;FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;Downstream TCR signaling;NOD1/2 Signaling Pathway;activated TAK1 mediates p38 MAPK activation;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;Nuclear signaling by ERBB4;TRAF6-mediated induction of TAK1 complex within TLR4 complex;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;IRAK2 mediated activation of TAK1 complex;IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation;TNFR1-induced NFkappaB signaling pathway;TICAM1,TRAF6-dependent induction of TAK1 complex;Interleukin-1 signaling PE1 6 +NX_Q9NYK1 Toll-like receptor 7 1049 120922 8.51 1 Endosome;Endoplasmic reticulum membrane;Phagosome;Lysosome NA Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR7 is a nucleotide-sensing TLR which is activated by single-stranded RNA. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (By similarity). NA Belongs to the Toll-like receptor family. Toll-like receptor signaling pathway;Measles;Influenza A;TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;MyD88 dependent cascade initiated on endosome;Trafficking and processing of endosomal TLR;Toll Like Receptor 7/8 (TLR7/8) Cascade PE1 X +NX_Q9NYK5 39S ribosomal protein L39, mitochondrial 338 38712 7.56 0 Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mL39 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 21 +NX_Q9NYK6 Protein EURL homolog 297 33948 6.1 0 Cytoplasm;Cytoskeleton NA Plays a role in cortical progenitor cell proliferation and differentiation. Promotes dendritic spine development of post-migratory cortical projection neurons by modulating the beta-catenin signaling pathway. NA Belongs to the EURL family. NA PE1 21 +NX_Q9NYL2 Mitogen-activated protein kinase kinase kinase 20 800 91155 7.9 0 Cytoplasm;Cytosol;Nucleus Split-foot malformation with mesoaxial polydactyly;Myopathy, centronuclear, 6, with fiber-type disproportion Phosphorylates histone H3 at 'Ser-28' (PubMed:15684425). May have role in neoplastic cell transformation and cancer development (PubMed:15172994). Causes cell shrinkage and disruption of actin stress fibers (PubMed:11042189).;Stress-activated component of a protein kinase signal transduction cascade. Regulates the JNK and p38 pathways. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. Pro-apoptotic. Role in regulation of S and G2 cell cycle checkpoint by direct phosphorylation of CHEK2 (PubMed:10924358, PubMed:11836244, PubMed:15342622, PubMed:21224381). Involved in limb development (PubMed:26755636). NA Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. MAPK signaling pathway;Tight junction PE1 2 +NX_Q9NYL4 Peptidyl-prolyl cis-trans isomerase FKBP11 201 22180 9.44 1 Membrane;Centrosome NA PPIases accelerate the folding of proteins during protein synthesis. NA Belongs to the FKBP-type PPIase family. NA PE1 12 +NX_Q9NYL5 24-hydroxycholesterol 7-alpha-hydroxylase 469 54116 8.85 0 Microsome membrane;Endoplasmic reticulum membrane NA Involved in the bile acid metabolism. Has a preference for 24-hydroxycholesterol, and converts it into a 7-alpha-hydroxylated product. NA Belongs to the cytochrome P450 family. Primary bile acid biosynthesis;Synthesis of bile acids and bile salts via 24-hydroxycholesterol;Endogenous sterols PE1 6 +NX_Q9NYL9 Tropomodulin-3 352 39595 5.08 0 Cytosol;Cytoskeleton NA Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton (By similarity). NA Belongs to the tropomodulin family. Striated Muscle Contraction PE1 15 +NX_Q9NYM4 Probable G-protein coupled receptor 83 423 48339 9.32 7 Cell membrane NA Orphan receptor. Could be a neuropeptide Y receptor. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events PE2 11 +NX_Q9NYM9 BET1-like protein 111 12388 7.87 1 Golgi apparatus;Nucleoplasm;trans-Golgi network membrane;Golgi apparatus membrane NA Vesicle SNARE required for targeting and fusion of retrograde transport vesicles with the Golgi complex. Required for the integrity of the Golgi complex (By similarity). NA NA SNARE interactions in vesicular transport;Intra-Golgi traffic;COPI-mediated anterograde transport PE1 11 +NX_Q9NYN1 Ras-like protein family member 12 266 29662 9.16 0 NA NA NA NA Belongs to the small GTPase superfamily. Ras family. NA PE1 15 +NX_Q9NYP3 Protein downstream neighbor of Son 566 62747 8.84 0 Nucleoplasm;Cytosol;Cell junction;Nucleus Microcephaly, short stature, and limb abnormalities;Microcephaly-micromelia syndrome Replisome component that maintains genome stability by protecting stalled or damaged replication forks. After the induction of replication stress, required for the stabilization of stalled replication forks, the efficient activation of the intra-S-phase and G/2M cell-cycle checkpoints and the maintenance of genome stability. NA Belongs to the DONSON family. NA PE1 21 +NX_Q9NYP7 Elongation of very long chain fatty acids protein 5 299 35293 9.49 7 Dendrite;Endoplasmic reticulum;Endoplasmic reticulum membrane Spinocerebellar ataxia 38 Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate in the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators (By similarity) (PubMed:10970790, PubMed:20937905). In conditions where the essential linoleic and alpha linoleic fatty acids are lacking it is also involved in the synthesis of Mead acid from oleic acid (By similarity). NA Belongs to the ELO family. ELOVL5 subfamily. Lipid metabolism; polyunsaturated fatty acid biosynthesis.;Fatty acid elongation;Biosynthesis of unsaturated fatty acids;Synthesis of very long-chain fatty acyl-CoAs;Linoleic acid (LA) metabolism;alpha-linolenic acid (ALA) metabolism PE1 6 +NX_Q9NYP8 Uncharacterized protein C21orf62 219 24886 8.31 0 NA NA NA NA NA NA PE2 21 +NX_Q9NYP9 Protein Mis18-alpha 233 25863 5.14 0 Chromosome;Nucleoplasm;Centromere;Cytosol;Nucleus NA Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis. NA Belongs to the mis18 family. Deposition of new CENPA-containing nucleosomes at the centromere PE1 21 +NX_Q9NYQ3 Hydroxyacid oxidase 2 351 38839 7.57 0 Peroxisome NA Catalyzes the oxidation of L-alpha-hydroxy acids as well as, more slowly, that of L-alpha-amino acids. NA Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family. Glyoxylate and dicarboxylate metabolism;Metabolic pathways;Peroxisome;Peroxisomal lipid metabolism;Peroxisomal protein import PE1 1 +NX_Q9NYQ6 Cadherin EGF LAG seven-pass G-type receptor 1 3014 329486 5.59 7 Cell membrane Neural tube defects Receptor that may have an important role in cell/cell signaling during nervous system formation. The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. NA PE1 22 +NX_Q9NYQ7 Cadherin EGF LAG seven-pass G-type receptor 3 3312 358185 6.23 7 Cell membrane NA Receptor that may have an important role in cell/cell signaling during nervous system formation. NA Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. NA PE1 3 +NX_Q9NYQ8 Protocadherin Fat 2 4349 479317 5 1 trans-Golgi network;Cell junction;Cell membrane Spinocerebellar ataxia 45 Involved in the regulation of cell migration (PubMed:18534823). May be involved in mediating the organization of the parallel fibers of granule cells during cerebellar development (By similarity). NA NA NA PE1 5 +NX_Q9NYR8 Retinol dehydrogenase 8 311 33755 8.74 3 Membrane NA Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinal to all-trans-retinol. May play a role in the regeneration of visual pigment at high light intensity (By similarity). NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. Retinol metabolism;Metabolic pathways;The canonical retinoid cycle in rods (twilight vision) PE1 19 +NX_Q9NYR9 NF-kappa-B inhibitor-interacting Ras-like protein 2 191 21508 8.22 0 Nucleoplasm;Cytoplasm;Nucleolus NA Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation. May act by blocking phosphorylation of NFKBIB and nuclear localization of p65/RELA NF-kappa-B subunit. It is unclear whether it acts as a GTPase. Both GTP- and GDP-bound forms block phosphorylation of NFKBIB (By similarity). NA Belongs to the small GTPase superfamily. Ras family. KappaB-Ras subfamily. RIP-mediated NFkB activation via ZBP1;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated NF-kB activation PE1 17 +NX_Q9NYS0 NF-kappa-B inhibitor-interacting Ras-like protein 1 192 21643 5.99 0 Cytoplasm;Cytoskeleton NA Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation. May act by blocking phosphorylation of NFKBIB and mediating cytoplasmic retention of p65/RELA NF-kappa-B subunit. It is unclear whether it acts as a GTPase. Both GTP- and GDP-bound forms block phosphorylation of NFKBIB. NA Belongs to the small GTPase superfamily. Ras family. KappaB-Ras subfamily. RIP-mediated NFkB activation via ZBP1;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated NF-kB activation PE1 3 +NX_Q9NYS7 WD repeat and SOCS box-containing protein 2 404 45286 8.36 0 NA NA May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA NA Protein modification; protein ubiquitination.;Neddylation PE1 12 +NX_Q9NYT0 Pleckstrin-2 353 39971 9.45 0 Cytoplasmic vesicle;Cytosol;Lamellipodium membrane;Cytoskeleton NA May help orchestrate cytoskeletal arrangement. Contribute to lamellipodia formation. NA NA NA PE1 14 +NX_Q9NYT6 Zinc finger protein 226 803 91921 9.01 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9NYU1 UDP-glucose:glycoprotein glucosyltransferase 2 1516 174735 6.43 0 Endoplasmic reticulum lumen;Endoplasmic reticulum-Golgi intermediate compartment NA Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation. NA Belongs to the glycosyltransferase 8 family. Protein modification; protein glycosylation.;Protein processing in endoplasmic reticulum;ER Quality Control Compartment (ERQC) PE1 13 +NX_Q9NYU2 UDP-glucose:glycoprotein glucosyltransferase 1 1555 177190 5.42 0 Cytosol;Endoplasmic reticulum lumen;Endoplasmic reticulum-Golgi intermediate compartment NA Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation. NA Belongs to the glycosyltransferase 8 family. Protein modification; protein glycosylation.;Protein processing in endoplasmic reticulum;ER Quality Control Compartment (ERQC) PE1 2 +NX_Q9NYV4 Cyclin-dependent kinase 12 1490 164155 9.46 0 Nucleoplasm;Nucleus speckle;Nucleus NA Cyclin-dependent kinase that phosphorylates the C-terminal domain (CTD) of the large subunit of RNA polymerase II (POLR2A), thereby acting as a key regulator of transcription elongation. Regulates the expression of genes involved in DNA repair and is required for the maintenance of genomic stability. Preferentially phosphorylates 'Ser-5' in CTD repeats that are already phosphorylated at 'Ser-7', but can also phosphorylate 'Ser-2'. Required for RNA splicing, possibly by phosphorylating SRSF1/SF2. Involved in regulation of MAP kinase activity, possibly leading to affect the response to estrogen inhibitors. Phosphorylation at Thr-893 increases kinase activity. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. TP53 Regulates Transcription of DNA Repair Genes PE1 17 +NX_Q9NYV6 RNA polymerase I-specific transcription initiation factor RRN3 651 74107 5.4 0 Nucleolus NA Required for efficient transcription initiation by RNA polymerase I. Required for the formation of the competent preinitiation complex (PIC). Dissociates from pol I as a consequence of transcription. In vitro, cannot activate transcription in a subsequent transcription reaction (By similarity). Phosphorylation is required for participation in rDNA transcription (By similarity). Phosphorylated at Thr-200 by MAPK9/JNK2, which abrogates initiation complex formation. Belongs to the RRN3 family. RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape PE1 16 +NX_Q9NYV7 Taste receptor type 2 member 16 291 33986 9.5 7 Cell membrane NA Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 7 +NX_Q9NYV8 Taste receptor type 2 member 14 317 36160 10.12 7 Membrane NA Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 12 +NX_Q9NYV9 Taste receptor type 2 member 13 303 35118 9.68 7 Membrane NA Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5. NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 12 +NX_Q9NYW0 Taste receptor type 2 member 10 307 35365 9.55 7 Membrane NA Gustducin-coupled strychnine receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 12 +NX_Q9NYW1 Taste receptor type 2 member 9 312 35611 9.83 7 Membrane NA Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 (By similarity). NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 12 +NX_Q9NYW2 Taste receptor type 2 member 8 309 35877 9.66 7 Membrane NA Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5. NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 12 +NX_Q9NYW3 Taste receptor type 2 member 7 318 36550 9.69 7 Membrane NA Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 12 +NX_Q9NYW4 Taste receptor type 2 member 5 299 34505 9.86 7 Membrane;Nucleoplasm;Cytosol;Nucleolus NA Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5. NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 7 +NX_Q9NYW5 Taste receptor type 2 member 4 299 33841 9.85 7 Cilium membrane;Membrane NA Gustducin-coupled receptor for denatonium and N(6)-propyl-2-thiouracil implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. In airway epithelial cells, binding of denatonium increases the intracellular calcium ion concentration and stimulates ciliary beat frequency. NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 7 +NX_Q9NYW6 Taste receptor type 2 member 3 316 35915 9.72 7 Membrane NA Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE2 7 +NX_Q9NYW7 Taste receptor type 2 member 1 299 34333 9.87 7 Membrane NA Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5. NA Belongs to the G-protein coupled receptor T2R family. Taste transduction;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors) PE1 5 +NX_Q9NYW8 RB-associated KRAB zinc finger protein 714 82995 7.02 0 Nucleoplasm;Nucleus NA May repress E2F-dependent transcription. May promote AR-dependent transcription. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 7 +NX_Q9NYX4 Neuron-specific vesicular protein calcyon 217 23434 6.43 1 Cytoplasmic vesicle membrane;Cell membrane NA Interacts with clathrin light chain A and stimulates clathrin self-assembly and clathrin-mediated endocytosis. Glycosylated. Belongs to the NSG family. Dopaminergic synapse PE1 10 +NX_Q9NYY1 Interleukin-20 176 20072 8.92 0 Secreted NA Proinflammatory and angiogenic cytokine that may be involved in epidermal function and psoriasis. Angiogenic and proliferative activities are antagonized by IL10. May act through STAT3. NA Belongs to the IL-10 family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-20 family signaling PE1 1 +NX_Q9NYY3 Serine/threonine-protein kinase PLK2 685 78237 8.52 0 Mitochondrion;Centriole;Nucleoplasm;Cytosol;Dendrite NA Tumor suppressor serine/threonine-protein kinase involved in synaptic plasticity, centriole duplication and G1/S phase transition. Polo-like kinases act by binding and phosphorylating proteins are that already phosphorylated on a specific motif recognized by the POLO box domains. Phosphorylates CENPJ, NPM1, RAPGEF2, RASGRF1, SNCA, SIPA1L1 and SYNGAP1. Plays a key role in synaptic plasticity and memory by regulating the Ras and Rap protein signaling: required for overactivity-dependent spine remodeling by phosphorylating the Ras activator RASGRF1 and the Rap inhibitor SIPA1L1 leading to their degradation by the proteasome. Conversely, phosphorylates the Rap activator RAPGEF2 and the Ras inhibitor SYNGAP1, promoting their activity. Also regulates synaptic plasticity independently of kinase activity, via its interaction with NSF that disrupts the interaction between NSF and the GRIA2 subunit of AMPARs, leading to a rapid rundown of AMPAR-mediated current that occludes long term depression. Required for procentriole formation and centriole duplication by phosphorylating CENPJ and NPM1, respectively. Its induction by p53/TP53 suggests that it may participate in the mitotic checkpoint following stress. Catalytic activity is enhanced by phosphorylation of Thr-239.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CDC5/Polo subfamily. TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 5 +NX_Q9NYY8 FAST kinase domain-containing protein 2, mitochondrial 710 81463 8.31 0 Mitochondrion;Mitochondrion nucleoid NA Plays an important role in assembly of the mitochondrial large ribosomal subunit (PubMed:25683715). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation (PubMed:27667664). NA Belongs to the FAST kinase family. NA PE1 2 +NX_Q9NYZ1 Golgi apparatus membrane protein TVP23 homolog B 205 23576 8.62 4 Membrane NA NA NA Belongs to the TVP23 family. NA PE1 17 +NX_Q9NYZ2 Mitoferrin-1 338 37323 9.33 6 Cytoplasm;Mitochondrion;Cell membrane;Cytosol;Mitochondrion inner membrane NA Mitochondrial iron transporter that specifically mediates iron uptake in developing erythroid cells, thereby playing an essential role in heme biosynthesis. The iron delivered into the mitochondria, presumably as Fe(2+), is then probably delivered to ferrochelatase to catalyze Fe(2+) incorporation into protoprophyrin IX to make heme (By similarity). NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Mitochondrial iron-sulfur cluster biogenesis PE1 8 +NX_Q9NYZ3 G2 and S phase-expressed protein 1 720 76645 9.45 0 Centrosome;Cytoskeleton;Cell membrane NA May be involved in p53-induced cell cycle arrest in G2/M phase by interfering with microtubule rearrangements that are required to enter mitosis. Overexpression delays G2/M phase progression. Phosphorylated in mitosis. NA p53 signaling pathway;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint PE1 22 +NX_Q9NYZ4 Sialic acid-binding Ig-like lectin 8 499 54042 8.39 1 Membrane;Cytosol NA Putative adhesion molecule that mediates sialic-acid dependent binding to red blood cells (PubMed:10856141, PubMed:10625619). Preferentially binds to alpha-2,3-linked sialic acid. Also binds to alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface (PubMed:10625619). Recognizes simultaneously epitopes having a terminal N-acetylneuraminic acid (sialic acid) and an underlying 6-O-sulfated galactose. Preferentially binds to Gal-6-sulfated sialyl-Lewis X glycan epitopes (PubMed:27357658). NA Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_Q9NZ01 Very-long-chain enoyl-CoA reductase 308 36034 9.5 3 Endoplasmic reticulum;Endoplasmic reticulum membrane Mental retardation, autosomal recessive 14 Involved in both the production of very long-chain fatty acids for sphingolipid synthesis and the degradation of the sphingosine moiety in sphingolipids through the sphingosine 1-phosphate metabolic pathway (PubMed:25049234). Catalyzes the last of the four reactions of the long-chain fatty acids elongation cycle (PubMed:12482854). This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle (PubMed:12482854). This enzyme reduces the trans-2,3-enoyl-CoA fatty acid intermediate to an acyl-CoA that can be further elongated by entering a new cycle of elongation (PubMed:12482854). Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators (PubMed:12482854). Catalyzes the saturation step of the sphingosine 1-phosphate metabolic pathway, the conversion of trans-2-hexadecenoyl-CoA to palmitoyl-CoA (PubMed:25049234). Glycosylated. Belongs to the steroid 5-alpha reductase family. Lipid metabolism; sphingolipid metabolism.;Lipid metabolism; fatty acid biosynthesis.;Fatty acid elongation;Biosynthesis of unsaturated fatty acids;Synthesis of very long-chain fatty acyl-CoAs PE1 19 +NX_Q9NZ08 Endoplasmic reticulum aminopeptidase 1 941 107235 6.02 1 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Cell membrane NA Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Strongly prefers substrates 9-16 residues long. Rapidly degrades 13-mer to a 9-mer and then stops. Preferentially hydrolyzes the residue Leu and peptides with a hydrophobic C-terminus, while it has weak activity toward peptides with charged C-terminus. May play a role in the inactivation of peptide hormones. May be involved in the regulation of blood pressure through the inactivation of angiotensin II and/or the generation of bradykinin in the kidney. N-glycosylated. Belongs to the peptidase M1 family. Antigen Presentation: Folding, assembly and peptide loading of class I MHC PE1 5 +NX_Q9NZ09 Ubiquitin-associated protein 1 502 55084 5.02 0 Cytoplasm;Cell membrane;Endosome;Cytoplasmic vesicle;Cytosol Spastic paraplegia 80, autosomal dominant Component of the ESCRT-I complex, a regulator of vesicular trafficking process (PubMed:21757351, PubMed:22405001, PubMed:31203368). Binds to ubiquitinated cargo proteins and is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs) (PubMed:21757351, PubMed:22405001). Plays a role in the proteasomal degradation of ubiquitinated cell-surface proteins, such as EGFR and BST2 (PubMed:24284069, PubMed:22405001, PubMed:31203368). NA NA Budding and maturation of HIV virion;Membrane binding and targetting of GAG proteins;Endosomal Sorting Complex Required For Transport (ESCRT);Microautophagy PE1 9 +NX_Q9NZ20 Group 3 secretory phospholipase A2 509 57167 9.35 0 Secreted;Centriole;Cell membrane NA PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Shows an 11-fold preference for phosphatidylglycerol over phosphatidylcholine (PC). Preferential cleavage: 1-palmitoyl-2-linoleoyl-phosphatidylethanolamine (PE) > 1-palmitoyl-2-linoleoyl-PC > 1-palmitoyl-2-arachidonoyl-PC > 1-palmitoyl-2-arachidonoyl-PE. Plays a role in ciliogenesis. N-glycosylation does not affect the catalytic activity, but is required for proper secretion. A nonglycosylated form was observed in several cell types.;In several cell types, the N- and C-termini are cleaved off. Belongs to the phospholipase A2 family. Glycerophospholipid metabolism;Ether lipid metabolism;Arachidonic acid metabolism;Linoleic acid metabolism;alpha-Linolenic acid metabolism;Metabolic pathways;MAPK signaling pathway;Vascular smooth muscle contraction;VEGF signaling pathway;Fc epsilon RI signaling pathway;Glutamatergic synapse;Long-term depression;GnRH signaling pathway;Pancreatic secretion;Fat digestion and absorption;Toxoplasmosis;Acyl chain remodelling of PG;Acyl chain remodelling of PC;Acyl chain remodelling of PE PE1 22 +NX_Q9NZ32 Actin-related protein 10 417 46307 7.06 0 Nucleolus;Cytoskeleton NA NA NA Belongs to the actin family. MHC class II antigen presentation;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;Neutrophil degranulation;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 14 +NX_Q9NZ38 Uncharacterized protein IDI2-AS1 188 21312 10.21 0 NA NA NA NA NA NA PE2 10 +NX_Q9NZ42 Gamma-secretase subunit PEN-2 101 12029 9.25 1 Golgi stack membrane;Membrane;Endoplasmic reticulum membrane;Cell membrane Acne inversa, familial, 2, with or without Dowling-Degos disease Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12522139, PubMed:12763021, PubMed:12740439, PubMed:12679784, PubMed:24941111, PubMed:30598546, PubMed:30630874). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). PSENEN modulates both endoproteolysis of presenilin and gamma-secretase activity (PubMed:12522139, PubMed:12763021, PubMed:12740439, PubMed:12679784, PubMed:24941111). NA Belongs to the PEN-2 family. Notch signaling pathway;Alzheimer's disease;EPH-ephrin mediated repulsion of cells;Amyloid fiber formation;Nuclear signaling by ERBB4;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activated NOTCH1 Transmits Signal to the Nucleus;Regulated proteolysis of p75NTR;NOTCH2 Activation and Transmission of Signal to the Nucleus;NRIF signals cell death from the nucleus;NOTCH3 Activation and Transmission of Signal to the Nucleus;Noncanonical activation of NOTCH3;NOTCH4 Activation and Transmission of Signal to the Nucleus PE1 19 +NX_Q9NZ43 Vesicle transport protein USE1 259 29371 9.13 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA SNARE that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER. NA Belongs to the USE1 family. SNARE interactions in vesicular transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 19 +NX_Q9NZ45 CDGSH iron-sulfur domain-containing protein 1 108 12199 9.2 1 Mitochondrion outer membrane;Cytoplasm;Mitochondrion NA Plays a key role in regulating maximal capacity for electron transport and oxidative phosphorylation (By similarity). May be involved in Fe-S cluster shuttling and/or in redox reactions. Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. Belongs to the CISD protein family. NA PE1 10 +NX_Q9NZ52 ADP-ribosylation factor-binding protein GGA3 723 78315 5.41 0 Golgi apparatus;Endosome membrane;trans-Golgi network membrane;Recycling endosome membrane;Early endosome membrane NA Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (DXXLL) motif (PubMed:11301005). Mediates export of the GPCR receptor ADRA2B to the cell surface (PubMed:26811329). Nvolved in BACE1 transport and sorting as well as regulation of BACE1 protein levels (PubMed:17553422, PubMed:15615712, PubMed:20484053). Regulates retrograde transport of BACE1 from endosomes to the trans-Golgi network via interaction through the VHS motif and dependent of BACE1 phosphorylation (PubMed:15615712). Modulates BACE1 protein levels intedepently of the interaction between VHS domain and DXXLL motif through recognition of ubiquitination (PubMed:20484053). Key player in a novel DXXLL-mediated endosomal sorting machinery to the recycling pathway that targets NTRK1 to the plasma membrane (By similarity). Ubiquitinated.;Phosphorylated by CK2 and dephosphorylated by PP2A (By similarity). Phosphorylation of GGA3 allows the internal DXXLL motif to bind the VHS domain and to inhibit the recognition of cargo signals.;Proteolytically cleaved during apoptosis by CASP3. Belongs to the GGA protein family. Lysosome;Amyloid fiber formation;MET receptor recycling;TBC/RABGAPs PE1 17 +NX_Q9NZ53 Podocalyxin-like protein 2 605 65076 4.27 1 Membrane;Cytoplasmic vesicle;Golgi apparatus NA Acts as a ligand for vascular selectins. Mediates rapid rolling of leukocytes over vascular surfaces through high affinity divalent cation-dependent interactions with E-, P- and L-selectins. Glycosylated; contains chondroitin sulfate. Displays sialylated O-linked oligosaccharides.;Sulfation is necessary for interaction with SELL. Sialylated O-linked oligosaccharides are necessary for interaction with SELL, SELE and SELP. Belongs to the podocalyxin family. Cytosolic sulfonation of small molecules PE1 3 +NX_Q9NZ56 Formin-2 1722 180106 5.32 0 Cell cortex;Cell membrane;Nucleolus;Cytoplasmic vesicle membrane;Cytosol;Perinuclear region;Nucleus;Cytoskeleton Mental retardation, autosomal recessive 47 Actin-binding protein that is involved in actin cytoskeleton assembly and reorganization (PubMed:22330775, PubMed:21730168). Acts as an actin nucleation factor and promotes assembly of actin filaments together with SPIRE1 and SPIRE2 (PubMed:22330775, PubMed:21730168). Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport (By similarity). Required for asymmetric spindle positioning, asymmetric oocyte division and polar body extrusion during female germ cell meiosis (By similarity). Plays a role in responses to DNA damage, cellular stress and hypoxia by protecting CDKN1A against degradation, and thereby plays a role in stress-induced cell cycle arrest (PubMed:23375502). Also acts in the nucleus: together with SPIRE1 and SPIRE2, promotes assembly of nuclear actin filaments in response to DNA damage in order to facilitate movement of chromatin and repair factors after DNA damage (PubMed:26287480). Protects cells against apoptosis by protecting CDKN1A against degradation (PubMed:23375502). NA Belongs to the formin homology family. Cappuccino subfamily. Dorso-ventral axis formation PE1 1 +NX_Q9NZ63 Telomere length and silencing protein 1 homolog 289 33688 6.33 0 Nucleoplasm NA Involved in the regulation of telomeric heterochromatin assembly and control of telomere length. NA Belongs to the TLS1 family. NA PE1 9 +NX_Q9NZ71 Regulator of telomere elongation helicase 1 1219 133683 8.6 0 Nucleus speckle;Nucleus Dyskeratosis congenita, autosomal dominant, 4;Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 3 ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere. NA Belongs to the helicase family. RAD3/XPD subfamily. Cytosolic iron-sulfur cluster assembly;Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) PE1 20 +NX_Q9NZ72 Stathmin-3 180 21017 6.99 0 Growth cone;Golgi apparatus;Cytosol;Axon NA Exhibits microtubule-destabilizing activity, which is antagonized by STAT3. N-terminal palmitoylation promotes specific anchoring to the cytosolic leaflet of Golgi membranes and subsequent vesicular trafficking along dendrites and axons. Neuronal Stathmins are substrates for palmitoyltransferases ZDHHC3, ZDHHC7 and ZDHHC15. Belongs to the stathmin family. NA PE1 20 +NX_Q9NZ81 Proline-rich protein 13 148 15385 9.75 0 Nucleoplasm;Nucleus;Cell membrane NA Negatively regulates TSP1 expression at the level of transcription. This down-regulation was shown to reduce taxane-induced apoptosis. NA NA NA PE1 12 +NX_Q9NZ94 Neuroligin-3 848 93895 5.94 1 Golgi apparatus;Cell junction;Synapse;Cell membrane Asperger syndrome, X-linked, 1;Autism, X-linked 1 Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and may mediate its effects by clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. May also play a role in glia-glia or glia-neuron interactions in the developing peripheral nervous system (By similarity). NA Belongs to the type-B carboxylesterase/lipase family. Cell adhesion molecules (CAMs);Neurexins and neuroligins PE1 X +NX_Q9NZA1 Chloride intracellular channel protein 5 410 46503 4.71 1 Cytoplasm;Golgi apparatus;Cell cortex;Nucleus speckle;Cell membrane;Membrane;Centrosome;Apical cell membrane;Cytoskeleton Deafness, autosomal recessive, 103 Required for normal hearing (PubMed:24781754). It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture (PubMed:15184393, PubMed:18028448, PubMed:20335315). Plays a role in formation of the lens suture in the eye, which is important for normal optical properties of the lens (By similarity). NA Belongs to the chloride channel CLIC family. NA PE1 6 +NX_Q9NZB2 Constitutive coactivator of PPAR-gamma-like protein 1 1118 121888 9.07 0 Cytoplasm;Cytosol;Cell membrane NA May participate in mRNA transport in the cytoplasm (By similarity). Critical component of the oxidative stress-induced survival signaling. Activates src family kinases and acts as a scaffolding protein enabling src family kinases to phosphorylate and activate PI3-kinase. Binds RNA and promotes the secretion of IGF-II. May play a pivotal role in the progression of scirrhous-type gastric cancer by supporting cancer cell survival in environments with various oxidative stresses. Phosphorylated on tyrosine by src family kinases upon ultraviolet exposure.;Arg-982 is dimethylated, probably to asymmetric dimethylarginine. Belongs to the constitutive coactivator of PPAR-gamma family. NA PE1 9 +NX_Q9NZB8 Molybdenum cofactor biosynthesis protein 1 636 70105 9.4 0 Cytosol;Cell membrane Molybdenum cofactor deficiency, complementation group A Probably form a complex that catalyzes the conversion of 5'-GTP to cyclic pyranopterin monophosphate (cPMP). MOCS1A catalyzes the cyclization of GTP to (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate and MOCS1B catalyzes the subsequent conversion of (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate to cPMP. NA In the N-terminal section; belongs to the radical SAM superfamily. MoaA family.;In the C-terminal section; belongs to the MoaC family. Cofactor biosynthesis; molybdopterin biosynthesis.;Folate biosynthesis;Metabolic pathways;Sulfur relay system;Molybdenum cofactor biosynthesis PE1 6 +NX_Q9NZC2 Triggering receptor expressed on myeloid cells 2 230 25447 5.84 1 Secreted;Cell membrane Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 Forms a receptor signaling complex with TYROBP which mediates signaling and cell activation following ligand binding (PubMed:10799849). Acts as a receptor for amyloid-beta protein 42, a cleavage product of the amyloid-beta precursor protein APP, and mediates its uptake and degradation by microglia (PubMed:27477018, PubMed:29518356). Binding to amyloid-beta 42 mediates microglial activation, proliferation, migration, apoptosis and expression of pro-inflammatory cytokines, such as IL6R and CCL3, and the anti-inflammatory cytokine ARG1 (By similarity). Acts as a receptor for lipoprotein particles such as LDL, VLDL, and HDL and for apolipoproteins such as APOA1, APOA2, APOB, APOE, APOE2, APOE3, APOE4, and CLU and enhances their uptake in microglia (PubMed:27477018). Binds phospholipids (preferably anionic lipids) such as phosphatidylserine, phosphatidylethanolamine, phosphatidylglycerol and sphingomyelin (PubMed:29794134). Regulates microglial proliferation by acting as an upstream regulator of the Wnt/beta-catenin signaling cascade (By similarity). Required for microglial phagocytosis of apoptotic neurons (PubMed:24990881). Also required for microglial activation and phagocytosis of myelin debris after neuronal injury and of neuronal synapses during synapse elimination in the developing brain (By similarity). Regulates microglial chemotaxis and process outgrowth, and also the microglial response to oxidative stress and lipopolysaccharide (By similarity). It suppresses PI3K and NF-kappa-B signaling in response to lipopolysaccharide; thus promoting phagocytosis, suppressing pro-inflammatory cytokine and nitric oxide production, inhibiting apoptosis and increasing expression of IL10 and TGFB (By similarity). During oxidative stress, it promotes anti-apoptotic NF-kappa-B signaling and ERK signaling (By similarity). Plays a role in microglial MTOR activation and metabolism (By similarity). Regulates age-related changes in microglial numbers (PubMed:29752066). Triggers activation of the immune responses in macrophages and dendritic cells (PubMed:10799849). Mediates cytokine-induced formation of multinucleated giant cells which are formed by the fusion of macrophages (By similarity). In dendritic cells, it mediates up-regulation of chemokine receptor CCR7 and dendritic cell maturation and survival (PubMed:11602640). Involved in the positive regulation of osteoclast differentiation (PubMed:12925681). Undergoes ectodomain shedding through proteolytic cleavage by ADAM10 and ADAM17 to produce a transmembrane segment, the TREM2 C-terminal fragment (TREM2-CTF), which is subsequently cleaved by gamma-secretase. NA Osteoclast differentiation;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;DAP12 signaling;Other semaphorin interactions;DAP12 interactions PE1 6 +NX_Q9NZC3 Glycerophosphodiester phosphodiesterase 1 331 37718 6.22 2 Cell membrane;Nucleolus;Cytoplasmic vesicle membrane;Nucleoplasm;Cytoplasmic vesicle NA Has glycerophosphoinositol phosphodiesterase activity. Hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and the corresponding amines. Has little or no activity towards glycerophosphocholine. GDE1 activity can be modulated by G-protein signaling pathways (By similarity). N-glycosylated. Belongs to the glycerophosphoryl diester phosphodiesterase family. Glycerophospholipid catabolism PE1 16 +NX_Q9NZC4 ETS homologous factor 300 34892 6.83 0 Golgi apparatus;Nucleoplasm;Nucleus NA Transcriptional activator that may play a role in regulating epithelial cell differentiation and proliferation. May act as a repressor for a specific subset of ETS/AP-1-responsive genes and as a modulator of the nuclear response to mitogen-activated protein kinase signaling cascades. Binds to DNA sequences containing the consensus nucleotide core sequence GGAA. Involved in regulation of TNFRSF10B/DR5 expression through Ets-binding sequences on the TNFRSF10B/DR5 promoter. May contribute to development and carcinogenesis by acting as a tumor suppressor gene or anti-oncogene. NA Belongs to the ETS family. NA PE1 11 +NX_Q9NZC7 WW domain-containing oxidoreductase 414 46677 6.71 0 Golgi apparatus;Cytoplasm;Mitochondrion;Cytosol;Nucleus Epileptic encephalopathy, early infantile, 28;Esophageal cancer;Spinocerebellar ataxia, autosomal recessive, 12 Putative oxidoreductase. Acts as a tumor suppressor and plays a role in apoptosis. Required for normal bone development (By similarity). May function synergistically with p53/TP53 to control genotoxic stress-induced cell death. Plays a role in TGFB1 signaling and TGFB1-mediated cell death. May also play a role in tumor necrosis factor (TNF)-mediated cell death. Inhibits Wnt signaling, probably by sequestering DVL2 in the cytoplasm. Ubiquitinated when phosphorylated by TNK2, leading to its degradation.;Phosphorylated upon genotoxic stress. Phosphorylation of Tyr-33 regulates interaction with TP53, TP73 and MAPK8. May also regulate proapoptotic activity. Phosphorylation by TNK2 is associated with polyubiquitination and degradation. Belongs to the short-chain dehydrogenases/reductases (SDR) family. Nuclear signaling by ERBB4;Activation of the TFAP2 (AP-2) family of transcription factors;Negative regulation of activity of TFAP2 (AP-2) family transcription factors PE1 16 +NX_Q9NZC9 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 954 105938 9.15 0 Nucleus Schimke immuno-osseous dysplasia ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, that unwind DNA. May play an important role in DNA damage response by acting at stalled replication forks. DNA damage-regulated phosphorylation by kinases that may include ATM, ATR and PRKDC. Belongs to the SNF2/RAD54 helicase family. SMARCAL1 subfamily. NA PE1 2 +NX_Q9NZD1 G-protein coupled receptor family C group 5 member D 345 38791 4.87 7 Cell membrane NA NA NA Belongs to the G-protein coupled receptor 3 family. NA PE1 12 +NX_Q9NZD2 Glycolipid transfer protein 209 23850 6.91 0 Cytoplasm;Cytosol NA Accelerates the intermembrane transfer of various glycolipids. Catalyzes the transfer of various glycosphingolipids between membranes but does not catalyze the transfer of phospholipids. May be involved in the intracellular translocation of glucosylceramides. NA Belongs to the GLTP family. Glycosphingolipid metabolism PE1 12 +NX_Q9NZD4 Alpha-hemoglobin-stabilizing protein 102 11840 4.9 0 Cytoplasm NA Acts as a chaperone to prevent the harmful aggregation of alpha-hemoglobin during normal erythroid cell development. Specifically protects free alpha-hemoglobin from precipitation. It is predicted to modulate pathological states of alpha-hemoglobin excess such as beta-thalassemia. NA Belongs to the AHSP family. NA PE1 16 +NX_Q9NZD8 Maspardin 308 34960 5.85 0 Endosome membrane;trans-Golgi network membrane;Membrane;Cytoplasmic vesicle;Cytosol Spastic paraplegia 21, autosomal recessive May play a role as a negative regulatory factor in CD4-dependent T-cell activation. NA Belongs to the AB hydrolase superfamily. NA PE1 15 +NX_Q9NZE8 39S ribosomal protein L35, mitochondrial 188 21514 11.29 0 Mitochondrion NA NA NA Belongs to the bacterial ribosomal protein bL35 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 2 +NX_Q9NZF1 Placenta-specific gene 8 protein 115 12507 7.87 0 Cytosol NA NA NA Belongs to the cornifelin family. Neutrophil degranulation PE1 4 +NX_Q9NZG7 Ninjurin-2 142 15680 9.52 2 Membrane NA Homophilic cell adhesion molecule that promotes axonal growth. May play a role in nerve regeneration and in the formation and function of other tissues. NA Belongs to the ninjurin family. NA PE1 12 +NX_Q9NZH0 G-protein coupled receptor family C group 5 member B 403 44795 8.56 7 Cell membrane;Nucleolus;Nucleoplasm;Cytoplasmic vesicle membrane;Cytoplasmic vesicle NA Unknown. This retinoic acid-inducible G-protein coupled receptor provide evidence for a possible interaction between retinoid and G-protein signaling pathways. NA Belongs to the G-protein coupled receptor 3 family. NA PE1 16 +NX_Q9NZH4 Putative pituitary tumor-transforming gene 3 protein 202 22064 5.54 0 Cytoplasm;Nucleus NA NA NA Belongs to the securin family. NA PE5 8 +NX_Q9NZH5 Securin-2 202 22302 5.98 0 Cytoplasm;Nucleus NA NA NA Belongs to the securin family. Cell cycle;Oocyte meiosis;HTLV-I infection PE1 4 +NX_Q9NZH6 Interleukin-37 218 24126 6.09 0 Secreted;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA Suppressor of innate inflammatory and immune responses involved in curbing excessive inflammation. This function requires SMAD3. Suppresses, or reduces, proinflammatory cytokine production, including IL1A and IL6, as well as CCL12, CSF1, CSF2, CXCL13, IL1B, IL23A and IL1RN, but spares anti-inflammatory cytokines. Inhibits dendritic cell activation. Proteolytically converted to the mature form by CASP1. Belongs to the IL-1 family. Interleukin-18 signaling;Interleukin-37 signaling PE1 2 +NX_Q9NZH7 Interleukin-36 beta 164 18522 9.6 0 Secreted NA Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells linked to a pro-inflammatory response. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor IL1RAP. Stimulates production of interleukin-6 and interleukin-8 in synovial fibrobasts, articular chondrocytes and mature adipocytes. Induces expression of a number of antimicrobial peptides including beta-defensins 4 and 103 as well as a number of matrix metalloproteases. Seems to be involved in skin inflammatory response by acting on keratinocytes, dendritic cells and indirectly on T-cells to drive tissue infiltration, cell maturation and cell proliferation. In cultured keratinocytes induces the expression of macrophage, T-cell, and neutrophil chemokines, such as CCL3, CCL4, CCL5, CCL2, CCL17, CCL22, CL20, CCL5, CCL2, CCL17, CCL22, CXCL8, CCL20 and CXCL1, and the production of proinflammatory cytokines such as TNF-alpha, IL-8 and IL-6. N-terminal truncation leads to a dramatic enhancement of its activity (>1000-fold). Belongs to the IL-1 family. Interleukin-36 pathway PE1 2 +NX_Q9NZH8 Interleukin-36 gamma 169 18721 5.06 0 Secreted NA Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor IL1RAP. Seems to be involved in skin inflammatory response by acting on keratinocytes, dendritic cells and indirectly on T-cells to drive tissue infiltration, cell maturation and cell proliferation. In cultured keratinocytes induces the expression of macrophage, T-cell, and neutrophil chemokines, such as CCL3, CCL4, CCL5, CCL2, CCL17, CCL22, CL20, CCL5, CCL2, CCL17, CCL22, CXCL8, CCL20 and CXCL1; also stimulates its own expression and that of the prototypic cutaneous proinflammatory parameters TNF-alpha, S100A7/psoriasin and inducible NOS. May play a role in proinflammatory responses during particular neutrophilic airway inflammation: activates mitogen-activated protein kinases and NF-kappa B in primary lung fibroblasts, and stimulates the expression of IL-8 and CXCL3 and Th17 chemokine CCL20 in lung fibroblasts. May be involved in the innate immune response to fungal pathogens, such as Aspergillus fumigatus. N-terminal truncation leads to a dramatic enhancement of its activity (>1000-fold). Belongs to the IL-1 family. Interleukin-36 pathway PE1 2 +NX_Q9NZI2 Kv channel-interacting protein 1 227 26817 5.1 0 Cytoplasm;Dendrite;Cell membrane NA Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Regulates channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND1/Kv4.1 and KCND2/Kv4.2 currents. Increases the presence of KCND2 at the cell surface. NA Belongs to the recoverin family. Phase 1 - inactivation of fast Na+ channels PE1 5 +NX_Q9NZI5 Grainyhead-like protein 1 homolog 618 70113 6.26 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA May function as a repressor in tissues where both isoform 1 and isoform 2 are expressed.;Transcription factor involved in epithelial development. Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' (PubMed:12175488, PubMed:18288204, PubMed:29309642). Important regulator of DSG1 in the context of hair anchorage and epidermal differentiation, participates in the maintenance of the skin barrier. There is no genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity during epithelia development (By similarity).;Functions as transcription activator. NA Belongs to the grh/CP2 family. Grainyhead subfamily. PPARA activates gene expression PE1 2 +NX_Q9NZI6 Transcription factor CP2-like protein 1 479 54627 6.53 0 Nucleolus;Mitochondrion;Nucleus NA Transcription factor that facilitates establishment and maintenance of pluripotency in embryonic stem cells (ESCs) (PubMed:25215486, PubMed:26906118). With KLF2, acts as the major effector of self-renewal that mediates induction of pluripotency downstream of LIF/STAT3 and Wnt/beta-catenin signaling (By similarity). Required for normal duct development in the salivary gland and kidney (By similarity). Coordinates the development of the kidney collecting ducts intercalated (IC) and principal (PC) cells, which regulate acid-base and salt-water homeostasis, respectively (By similarity). Regulates the expression of IC genes including subunits B1 and D2 of the V-ATPase complex, OXGR1, CA12, SLC4A1, AQP6 and IC-specific transcription factor FOXI1 (By similarity). Regulates also the expression of JAG1 and subsequent notch signaling in the collecting duct (By similarity). JAG1 initiates notch signaling in PCs but inhibits notch signaling in ICs (By similarity). Acts as a transcriptional suppressor that may suppress UBP1-mediated transcriptional activation (By similarity). Modulates the placental expression of CYP11A1 (PubMed:10644752). NA Belongs to the grh/CP2 family. CP2 subfamily. NA PE1 2 +NX_Q9NZI7 Upstream-binding protein 1 540 60491 5.92 0 Nucleoplasm;Nucleus NA Functions as a transcriptional activator in a promoter context-dependent manner. Modulates the placental expression of CYP11A1. Involved in regulation of the alpha-globin gene in erythroid cells. Activation of the alpha-globin promoter in erythroid cells is via synergistic interaction with TFCP2 (By similarity). Involved in regulation of the alpha-globin gene in erythroid cells. Binds strongly to sequences around the HIV-1 initiation site and weakly over the TATA-box. Represses HIV-1 transcription by inhibiting the binding of TFIID to the TATA-box. NA Belongs to the grh/CP2 family. CP2 subfamily. NA PE1 3 +NX_Q9NZI8 Insulin-like growth factor 2 mRNA-binding protein 1 577 63481 9.26 0 Cytoplasm;Dendritic spine;Perinuclear region;Growth cone;Lamellipodium;Filopodium;Cytosol;Axon;Dendrite;Nucleus NA RNA-binding factor that recruits target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript 'caging' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation. Plays a direct role in the transport and translation of transcripts required for axonal regeneration in adult sensory neurons (By similarity). Regulates localized beta-actin/ACTB mRNA translation, a crucial process for cell polarity, cell migration and neurite outgrowth. Co-transcriptionally associates with the ACTB mRNA in the nucleus. This binding involves a conserved 54-nucleotide element in the ACTB mRNA 3'-UTR, known as the 'zipcode'. The RNP thus formed is exported to the cytoplasm, binds to a motor protein and is transported along the cytoskeleton to the cell periphery. During transport, prevents ACTB mRNA from being translated into protein. When the RNP complex reaches its destination near the plasma membrane, IGF2BP1 is phosphorylated. This releases the mRNA, allowing ribosomal 40S and 60S subunits to assemble and initiate ACTB protein synthesis. Monomeric ACTB then assembles into the subcortical actin cytoskeleton (By similarity). During neuronal development, key regulator of neurite outgrowth, growth cone guidance and neuronal cell migration, presumably through the spatiotemporal fine tuning of protein synthesis, such as that of ACTB (By similarity). May regulate mRNA transport to activated synapses (By similarity). Binds to and stabilizes ABCB1/MDR-1 mRNA (By similarity). During interstinal wound repair, interacts with and stabilizes PTGS2 transcript. PTGS2 mRNA stabilization may be crucial for colonic mucosal wound healing (By similarity). Binds to the 3'-UTR of IGF2 mRNA by a mechanism of cooperative and sequential dimerization and regulates IGF2 mRNA subcellular localization and translation. Binds to MYC mRNA, in the coding region instability determinant (CRD) of the open reading frame (ORF), hence prevents MYC cleavage by endonucleases and possibly microRNA targeting to MYC-CRD. Binds to the 3'-UTR of CD44 mRNA and stabilizes it, hence promotes cell adhesion and invadopodia formation in cancer cells. Binds to the oncofetal H19 transcript and to the neuron-specific TAU mRNA and regulates their localizations. Binds to and stabilizes BTRC/FBW1A mRNA. Binds to the adenine-rich autoregulatory sequence (ARS) located in PABPC1 mRNA and represses its translation. PABPC1 mRNA-binding is stimulated by PABPC1 protein. Prevents BTRC/FBW1A mRNA degradation by disrupting microRNA-dependent interaction with AGO2. Promotes the directed movement of tumor-derived cells by fine-tuning intracellular signaling networks. Binds to MAPK4 3'-UTR and inhibits its translation. Interacts with PTEN transcript open reading frame (ORF) and prevents mRNA decay. This combined action on MAPK4 (down-regulation) and PTEN (up-regulation) antagonizes HSPB1 phosphorylation, consequently it prevents G-actin sequestration by phosphorylated HSPB1, allowing F-actin polymerization. Hence enhances the velocity of cell migration and stimulates directed cell migration by PTEN-modulated polarization. Interacts with Hepatitis C virus (HCV) 5'-UTR and 3'-UTR and specifically enhances translation at the HCV IRES, but not 5'-cap-dependent translation, possibly by recruiting eIF3. Interacts with HIV-1 GAG protein and blocks the formation of infectious HIV-1 particles. Reduces HIV-1 assembly by inhibiting viral RNA packaging, as well as assembly and processing of GAG protein on cellular membranes. During cellular stress, such as oxidative stress or heat shock, stabilizes target mRNAs that are recruited to stress granules, including CD44, IGF2, MAPK4, MYC, PTEN, RAPGEF2 and RPS6KA5 transcripts. Phosphorylated. Phosphorylation may impair association with ACTB mRNA and hence abolishes translational repression (By similarity). Belongs to the RRM IMP/VICKZ family. MAPK6/MAPK4 signaling;Insulin-like Growth Factor-2 mRNA Binding Proteins (IGF2BPs/IMPs/VICKZs) bind RNA PE1 17 +NX_Q9NZJ0 Denticleless protein homolog 730 79468 9.11 0 Nucleus membrane;Nucleolus;Chromosome;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex required for cell cycle control, DNA damage response and translesion DNA synthesis. The DCX(DTL) complex, also named CRL4(CDT2) complex, mediates the polyubiquitination and subsequent degradation of CDT1, CDKN1A/p21(CIP1), FBH1, KMT5A and SDE2 (PubMed:16861906, PubMed:16949367, PubMed:16964240, PubMed:17085480, PubMed:18703516, PubMed:18794347, PubMed:18794348, PubMed:19332548, PubMed:20129063, PubMed:23478441, PubMed:23478445, PubMed:23677613, PubMed:27906959). CDT1 degradation in response to DNA damage is necessary to ensure proper cell cycle regulation of DNA replication (PubMed:16861906, PubMed:16949367, PubMed:17085480). CDKN1A/p21(CIP1) degradation during S phase or following UV irradiation is essential to control replication licensing (PubMed:18794348, PubMed:19332548). KMT5A degradation is also important for a proper regulation of mechanisms such as TGF-beta signaling, cell cycle progression, DNA repair and cell migration (PubMed:23478445). Most substrates require their interaction with PCNA for their polyubiquitination: substrates interact with PCNA via their PIP-box, and those containing the 'K+4' motif in the PIP box, recruit the DCX(DTL) complex, leading to their degradation. In undamaged proliferating cells, the DCX(DTL) complex also promotes the 'Lys-164' monoubiquitination of PCNA, thereby being involved in PCNA-dependent translesion DNA synthesis (PubMed:20129063, PubMed:23478441, PubMed:23478445, PubMed:23677613). The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1 (PubMed:26431207). Ubiquitinated by the anaphase promoting complex/cyclosome (APC/C). Autoubiquitinated through 'Lys-48'-polyubiquitin chains in a PCNA-independent reaction, allowing proteasomal turnover. Polyubiquitinated by SCF(FBXO11) when not phosphorylated, leading to its degradation. A tight regulation of the polyubiquitination by SCF(FBXO11) is involved in the control of different processes such as TGF-beta signaling, cell cycle progression and exit.;Phosphorylated at Thr-464 by CDK1/Cyclin-B and CDK2/Cyclin-A but not by CDK2/Cyclin-E, MAPK1 or PLK1. Phosphorylation at Thr-464 inhibits the interaction with FBXO11 and decreases upon cell cycle exit induced by TGF-beta or serum starvation.;DTL is phosphorylated by AURKB (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);DTL is phosphorylated by ATR Belongs to the WD repeat cdt2 family. Protein modification; protein ubiquitination.;Recognition of DNA damage by PCNA-containing replication complex;Neddylation PE1 1 +NX_Q9NZJ4 Sacsin 4579 521126 6.63 0 Cytoplasm Spastic ataxia Charlevoix-Saguenay type Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins. NA NA NA PE1 13 +NX_Q9NZJ5 Eukaryotic translation initiation factor 2-alpha kinase 3 1116 125216 5.27 1 Endoplasmic reticulum membrane Wolcott-Rallison syndrome Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on 'Ser-52' during the unfolded protein response (UPR) and in response to low amino acid availability. Converts phosphorylated eIF-2-alpha/EIF2S1 either in a global protein synthesis inhibitor, leading to a reduced overall utilization of amino acids, or to a translation initiation activator of specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion. Serves as a critical effector of unfolded protein response (UPR)-induced G1 growth arrest due to the loss of cyclin-D1 (CCND1). Involved in control of mitochondrial morphology and function. N-glycosylated.;ADP-ribosylated by PARP16 upon ER stress, which increases kinase activity.;Oligomerization of the N-terminal ER luminal domain by ER stress promotes PERK trans-autophosphorylation of the C-terminal cytoplasmic kinase domain at multiple residues including Thr-982 on the kinase activation loop (By similarity). Autophosphorylated. Phosphorylated at Tyr-619 following endoplasmic reticulum stress, leading to activate its tyrosine-protein kinase activity. Dephosphorylated by PTPN1/TP1B, leading to inactivate its enzyme activity. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. GCN2 subfamily. Protein processing in endoplasmic reticulum;Alzheimer's disease;Hepatitis C;Measles;Influenza A;Herpes simplex infection;PERK regulates gene expression PE1 2 +NX_Q9NZJ6 Ubiquinone biosynthesis O-methyltransferase, mitochondrial 369 41054 7.1 0 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion NA O-methyltransferase that catalyzes the 2 O-methylation steps in the ubiquinone biosynthetic pathway. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. UbiG/COQ3 family. Cofactor biosynthesis; ubiquinone biosynthesis.;Ubiquinone and other terpenoid-quinone biosynthesis;Metabolic pathways;Ubiquinol biosynthesis PE1 6 +NX_Q9NZJ7 Mitochondrial carrier homolog 1 389 41544 9.4 2 Mitochondrion inner membrane NA Potential mitochondrial transporter. May play a role in apoptosis. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 6 +NX_Q9NZJ9 Diphosphoinositol polyphosphate phosphohydrolase 2 180 20306 5.99 0 Cytoplasm NA Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), PP-InsP4 and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphate Ap6A, but not Ap5A. The major reaction products are ADP and p4a from Ap6A. Also able to hydrolyze 5-phosphoribose 1-diphosphate. Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA. NA Belongs to the Nudix hydrolase family. DIPP subfamily. Synthesis of pyrophosphates in the cytosol PE1 12 +NX_Q9NZK5 Adenosine deaminase 2 511 58934 7.75 0 Secreted Sneddon syndrome;Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity. NA Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family. ADGF subfamily. Surfactant metabolism;Neutrophil degranulation PE1 22 +NX_Q9NZK7 Group IIE secretory phospholipase A2 142 15989 8.61 0 Secreted NA PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Has a preference for arachidonic-containing phospholipids. NA Belongs to the phospholipase A2 family. Glycerophospholipid metabolism;Ether lipid metabolism;Arachidonic acid metabolism;Linoleic acid metabolism;alpha-Linolenic acid metabolism;Metabolic pathways;MAPK signaling pathway;Vascular smooth muscle contraction;VEGF signaling pathway;Fc epsilon RI signaling pathway;Glutamatergic synapse;Long-term depression;GnRH signaling pathway;Pancreatic secretion;Fat digestion and absorption;Toxoplasmosis;Synthesis of PA;Acyl chain remodelling of PG;Acyl chain remodelling of PC;Acyl chain remodelling of PS;Acyl chain remodelling of PE;Acyl chain remodelling of PI PE1 1 +NX_Q9NZL3 Zinc finger protein 224 707 82280 9.01 0 Nucleoplasm;Nucleus;Nucleus membrane NA May be involved in transcriptional regulation as a transcriptional repressor. The DEPDC1A-ZNF224 complex may play a critical role in bladder carcinogenesis by repressing the transcription of the A20 gene, leading to transport of NF-KB protein into the nucleus, resulting in suppression of apoptosis of bladder cancer cells. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9NZL4 Hsp70-binding protein 1 359 39303 5.13 0 Cytoplasmic vesicle;Cytosol;Centrosome NA Inhibits HSPA1A chaperone activity by changing the conformation of the ATP-binding domain of HSPA1A and interfering with ATP binding. Interferes with ubiquitination mediated by STUB1 and inhibits chaperone-assisted degradation of immature CFTR. NA NA Protein processing in endoplasmic reticulum PE1 19 +NX_Q9NZL6 Ral guanine nucleotide dissociation stimulator-like 1 768 86701 5.78 0 Golgi apparatus;Nucleoplasm;Cytoplasmic vesicle NA Probable guanine nucleotide exchange factor. NA NA PPARA activates gene expression PE1 1 +NX_Q9NZL9 Methionine adenosyltransferase 2 subunit beta 334 37552 6.9 0 Nucleus;Cell membrane NA Regulatory subunit of S-adenosylmethionine synthetase 2, an enzyme that catalyzes the formation of S-adenosylmethionine from methionine and ATP. Regulates MAT2A catalytic activity by changing its kinetic properties, increasing its affinity for L-methionine (PubMed:10644686, PubMed:23189196, PubMed:25075345). Can bind NADP (in vitro) (PubMed:23189196, PubMed:23425511). NA Belongs to the dTDP-4-dehydrorhamnose reductase family. MAT2B subfamily. Amino-acid biosynthesis; S-adenosyl-L-methionine biosynthesis; S-adenosyl-L-methionine from L-methionine: step 1/1.;Cysteine and methionine metabolism;Metabolic pathways;Methylation;Ub-specific processing proteases PE1 5 +NX_Q9NZM1 Myoferlin 2061 234709 5.84 1 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Nucleus membrane;Cell membrane NA Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR (By similarity). NA Belongs to the ferlin family. NA PE1 10 +NX_Q9NZM3 Intersectin-2 1697 193461 8.32 0 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles (CCPs). Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR). Plays a role in dendrite formation by melanocytes (PubMed:23999003). NA NA Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 2 +NX_Q9NZM4 BRD4-interacting chromatin-remodeling complex-associated protein 1560 158490 6.17 0 Nucleoplasm NA Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:29374058). May play a role in BRD4-mediated gene transcription (PubMed:21555454). NA NA NA PE1 19 +NX_Q9NZM5 Ribosome biogenesis protein NOP53 478 54389 10.32 0 Nucleoplasm;Nucleolus NA Nucleolar protein which is involved in the integration of the 5S RNP into the ribosomal large subunit during ribosome biogenesis (PubMed:24120868). In ribosome biogenesis, may also play a role in rRNA transcription (PubMed:27729611). Also functions as a nucleolar sensor that regulates the activation of p53/TP53 in response to ribosome biogenesis perturbation, DNA damage and other stress conditions (PubMed:21741933, PubMed:24120868, PubMed:27829214). DNA damage or perturbation of ribosome biogenesis disrupt the interaction between NOP53 and RPL11 allowing RPL11 transport to the nucleoplasm where it can inhibit MDM2 and allow p53/TP53 activation (PubMed:24120868, PubMed:27829214). It may also positively regulate the function of p53/TP53 in cell cycle arrest and apoptosis through direct interaction, preventing its MDM2-dependent ubiquitin-mediated proteasomal degradation (PubMed:22522597). Originally identified as a tumor suppressor, it may also play a role in cell proliferation and apoptosis by positively regulating the stability of PTEN, thereby antagonizing the PI3K-AKT/PKB signaling pathway (PubMed:15355975, PubMed:16971513, PubMed:27729611). May also inhibit cell proliferation and increase apoptosis through its interaction with NF2 (PubMed:21167305). May negatively regulate NPM1 by regulating its nucleoplasmic localization, oligomerization and ubiquitin-mediated proteasomal degradation (PubMed:25818168). Thereby, may prevent NPM1 interaction with MYC and negatively regulate transcription mediated by the MYC-NPM1 complex (PubMed:25956029). May also regulate cellular aerobic respiration (PubMed:24556985). In the cellular response to viral infection, may play a role in the attenuation of interferon-beta through the inhibition of DDX58/RIG-1 (PubMed:27824081). Phosphorylated upon DNA damage probably by ATM and DNA-PK; may regulate NOP53 degradation.;Ubiquitin-mediated proteasomal degradation is regulated by c-JUN. It is associated with relocalization to the nucleoplasm and decreased homooligomerization. Belongs to the NOP53 family. Herpes simplex infection PE1 19 +NX_Q9NZM6 Polycystic kidney disease 2-like 2 protein 624 73790 9 6 Membrane;Cytosol;Cell membrane NA May function as a subunit of a cation channel and play a role in fertilization. NA Belongs to the polycystin family. NA PE1 5 +NX_Q9NZN1 Interleukin-1 receptor accessory protein-like 1 696 79969 5.87 1 Cytoplasm;Axon;Dendrite;Cell membrane Mental retardation, X-linked 21 May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel (PubMed:12783849). May activate the MAP kinase JNK (PubMed:15123616). Plays a role in neurite outgrowth (By similarity). During dendritic spine formation can bidirectionally induce pre- and post-synaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity). NA Belongs to the interleukin-1 receptor family. Receptor-type tyrosine-protein phosphatases;Interleukin-38 signaling PE1 X +NX_Q9NZN3 EH domain-containing protein 3 535 60887 6.12 0 Cilium membrane;Recycling endosome membrane;Cell membrane NA ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (PubMed:25686250). In vitro causes tubulation of endocytic membranes (PubMed:24019528). Binding to phosphatidic acid induces its membrane tubulation activity (By similarity). Plays a role in endocytic transport. Involved in early endosome to recycling endosome compartment (ERC), retrograde early endosome to Golgi, and endosome to plasma membrane (rapid recycling) protein transport. Involved in the regulation of Golgi maintenance and morphology (PubMed:16251358, PubMed:17233914, PubMed:19139087, PubMed:23781025). Involved in the recycling of internalized D1 dopamine receptor (PubMed:21791287). Plays a role in cardiac protein trafficking probably implicating ANK2 (PubMed:20489164). Involved in the ventricular membrane targeting of SLC8A1 and CACNA1C and probably the atrial membrane localization of CACNA1GG and CACNA1H implicated in the regulation of atrial myocyte excitability and cardiac conduction (By similarity). In conjunction with EHD4 may be involved in endocytic trafficking of KDR/VEGFR2 implicated in control of glomerular function (By similarity). Involved in the rapid recycling of integrin beta-3 implicated in cell adhesion maintenance (PubMed:23781025). Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating a function in neuronal APP processing (By similarity). Plays a role in the formation of the ciliary vesicle, an early step in cilium biogenesis; possibly sharing redundant functions with EHD1 (PubMed:25686250). NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. EHD subfamily. Endocytosis;Factors involved in megakaryocyte development and platelet production PE1 2 +NX_Q9NZN4 EH domain-containing protein 2 543 61161 6.03 0 Cytosol;Endosome membrane;Caveola;Cell membrane NA ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (By similarity). Plays a role in membrane trafficking between the plasma membrane and endosomes (PubMed:17233914). Important for the internalization of GLUT4. Required for fusion of myoblasts to skeletal muscle myotubes. Required for normal translocation of FER1L5 to the plasma membrane (By similarity). Regulates the equilibrium between cell surface-associated and cell surface-dissociated caveolae by constraining caveolae at the cell membrane (PubMed:25588833). EHD2 is phosphorylated by NEK3 Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. EHD subfamily. Endocytosis;Factors involved in megakaryocyte development and platelet production PE1 19 +NX_Q9NZN5 Rho guanine nucleotide exchange factor 12 1544 173232 5.49 0 Cytoplasm;Cell membrane;Membrane;Nucleoplasm;Cytosol NA May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. NA NA Vascular smooth muscle contraction;Axon guidance;Regulation of actin cytoskeleton;Tuberculosis;Rho GTPase cycle;NRAGE signals death through JNK;G alpha (12/13) signalling events;Sema4D induced cell migration and growth-cone collapse PE1 11 +NX_Q9NZN8 CCR4-NOT transcription complex subunit 2 540 59738 7.23 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Required for the CCR4-NOT complex structural integrity. Can repress transcription and may link the CCR4-NOT complex to transcriptional regulation; the repressive function may specifically involve the N-Cor repressor complex containing HDAC3, NCOR1 and NCOR2. Involved in the maintenance of embryonic stem (ES) cell identity. NA Belongs to the CNOT2/3/5 family. RNA degradation;Deadenylation of mRNA;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 12 +NX_Q9NZN9 Aryl-hydrocarbon-interacting protein-like 1 384 43903 5.63 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Leber congenital amaurosis 4 May be important in protein trafficking and/or protein folding and stabilization. NA NA NA PE1 17 +NX_Q9NZP0 Olfactory receptor 6C3 311 35531 8.75 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE3 12 +NX_Q9NZP2 Olfactory receptor 6C2 312 35178 8.96 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 12 +NX_Q9NZP5 Olfactory receptor 5AC2 309 35304 9.13 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 3 +NX_Q9NZP6 Nuclear pore-associated protein 1 1156 120954 8.94 0 Nucleoplasm;Nucleus inner membrane NA May be involved in spermatogenesis. NA NA NA PE1 15 +NX_Q9NZP8 Complement C1r subcomponent-like protein 487 53498 6.75 0 Cytosol;Secreted;Cytoskeleton NA Mediates the proteolytic cleavage of HP/haptoglobin in the endoplasmic reticulum. NA Belongs to the peptidase S1 family. NA PE1 12 +NX_Q9NZQ0 DnaJ homolog subfamily C member 27 273 30855 8.71 0 Cytosol;Nucleus NA GTPase which can activate the MEK/ERK pathway and induce cell transformation when overexpressed. May act as a nuclear scaffold for MAPK1, probably by association with MAPK1 nuclear export signal leading to enhanced ERK1/ERK2 signaling. NA Belongs to the small GTPase superfamily. Rab family. NA PE1 2 +NX_Q9NZQ3 NCK-interacting protein with SH3 domain 722 78960 5.94 0 Nucleus;Cell membrane NA Has an important role in stress fiber formation induced by active diaphanous protein homolog 1 (DRF1). Induces microspike formation, in vivo (By similarity). In vitro, stimulates N-WASP-induced ARP2/3 complex activation in the absence of CDC42 (By similarity). May play an important role in the maintenance of sarcomeres and/or in the assembly of myofibrils into sarcomeres. Implicated in regulation of actin polymerization and cell adhesion. Plays a role in angiogenesis. NA NA Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs PE1 3 +NX_Q9NZQ7 Programmed cell death 1 ligand 1 290 33275 6.76 1 Early endosome membrane;Endomembrane system;Recycling endosome membrane;Cell membrane NA Plays a critical role in induction and maintenance of immune tolerance to self (PubMed:11015443, PubMed:28813417, PubMed:28813410). As a ligand for the inhibitory receptor PDCD1/PD-1, modulates the activation threshold of T-cells and limits T-cell effector response (PubMed:11015443, PubMed:28813417, PubMed:28813410). Through a yet unknown activating receptor, may costimulate T-cell subsets that predominantly produce interleukin-10 (IL10) (PubMed:10581077).;The PDCD1-mediated inhibitory pathway is exploited by tumors to attenuate anti-tumor immunity and escape destruction by the immune system, thereby facilitating tumor survival (PubMed:28813417, PubMed:28813410). The interaction with PDCD1/PD-1 inhibits cytotoxic T lymphocytes (CTLs) effector function (By similarity). The blockage of the PDCD1-mediated pathway results in the reversal of the exhausted T-cell phenotype and the normalization of the anti-tumor response, providing a rationale for cancer immunotherapy (By similarity). Ubiquitinated; STUB1 likely mediates polyubiquitination of PD-L1/CD274 triggering its degradation. Belongs to the immunoglobulin superfamily. BTN/MOG family. Cell adhesion molecules (CAMs);PD-1 signaling PE1 9 +NX_Q9NZQ8 Transient receptor potential cation channel subfamily M member 5 1165 131451 6.32 6 Cell membrane NA Voltage-modulated Ca(2+)-activated, monovalent cation channel (VCAM) that mediates a transient membrane depolarization and plays a central role in taste transduction. Monovalent-specific, non-selective cation channel that mediates the transport of Na(+), K(+) and Cs(+) ions equally well. Activated directly by increases in intracellular Ca(2+), but is impermeable to it. Gating is voltage-dependent and displays rapid activation and deactivation kinetics upon channel stimulation even during sustained elevations in Ca(2+). Also activated by a fast intracellular Ca(2+) increase in response to inositol 1,4,5-triphosphate-producing receptor agonists. The channel is blocked by extracellular acidification. External acidification has 2 effects, a fast reversible block of the current and a slower irreversible enhancement of current inactivation. Is a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. Heat activation is due to a shift of the voltage-dependent activation curve to negative potentials. Activated by arachidonic acid in vitro. May be involved in perception of bitter, sweet and umami tastes. May also be involved in sensing semiochemicals. NA Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM5 sub-subfamily. Taste transduction;TRP channels PE2 11 +NX_Q9NZQ9 Tropomodulin-4 345 39335 4.69 0 Cytoskeleton NA Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton. NA Belongs to the tropomodulin family. Striated Muscle Contraction PE1 1 +NX_Q9NZR1 Tropomodulin-2 351 39595 5.21 0 Nucleoplasm;Nucleolus;Cytoskeleton NA Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton (By similarity). NA Belongs to the tropomodulin family. Striated Muscle Contraction PE1 15 +NX_Q9NZR2 Low-density lipoprotein receptor-related protein 1B 4599 515498 5.09 1 Membrane;Cytoplasmic vesicle NA Potential cell surface proteins that bind and internalize ligands in the process of receptor-mediated endocytosis. NA Belongs to the LDLR family. NA PE1 2 +NX_Q9NZR4 Visual system homeobox 1 365 38431 8.99 0 Nucleus Keratoconus 1;Craniofacial anomalies and anterior segment dysgenesis syndrome Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster (PubMed:10903837). May regulate the activity of the LCR and the cone opsin genes at earlier stages of development (PubMed:10903837). Dispensable in early retinal development (By similarity). NA Belongs to the paired homeobox family. NA PE1 20 +NX_Q9NZS2 Killer cell lectin-like receptor subfamily F member 1 231 26563 8.88 1 Membrane NA Involved in the natural killer (NK)-mediated cytolysis of PHA-induced lymphoblasts. NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 12 +NX_Q9NZS9 Bifunctional apoptosis regulator 450 52738 6.11 4 Endoplasmic reticulum membrane NA Apoptosis regulator. Has anti-apoptotic activity, both for apoptosis triggered via death-receptors and via mitochondrial factors. NA NA NA PE1 16 +NX_Q9NZT1 Calmodulin-like protein 5 146 15893 4.34 0 Cytosol;Cell membrane NA Binds calcium. May be involved in terminal differentiation of keratinocytes. NA NA Calcium signaling pathway;Phosphatidylinositol signaling system;Oocyte meiosis;Vascular smooth muscle contraction;Long-term potentiation;Neurotrophin signaling pathway;Dopaminergic synapse;Olfactory transduction;Phototransduction;Insulin signaling pathway;GnRH signaling pathway;Melanogenesis;Salivary secretion;Gastric acid secretion;Alzheimer's disease;Pertussis;Tuberculosis;Glioma;Neutrophil degranulation PE1 10 +NX_Q9NZT2 Opioid growth factor receptor 677 73325 4.77 0 Nucleoplasm;Cytoplasm;Nucleus NA Receptor for opioid growth factor (OGF), also known as Met-enkephalin. Seems to be involved in growth regulation. NA Belongs to the opioid growth factor receptor family. NA PE1 20 +NX_Q9NZU0 Leucine-rich repeat transmembrane protein FLRT3 649 73004 7.55 1 Endoplasmic reticulum membrane;Cell membrane;Growth cone membrane;Cell junction;Focal adhesion;Secreted;Cytosol;Axon Hypogonadotropic hypogonadism 21 with or without anosmia Functions in cell-cell adhesion, cell migration and axon guidance, exerting an attractive or repulsive role depending on its interaction partners. Plays a role in the spatial organization of brain neurons. Plays a role in vascular development in the retina (By similarity). Plays a role in cell-cell adhesion via its interaction with ADGRL3 and probably also other latrophilins that are expressed at the surface of adjacent cells (PubMed:26235030). Interaction with the intracellular domain of ROBO1 mediates axon attraction towards cells expressing NTN1. Mediates axon growth cone collapse and plays a repulsive role in neuron guidance via its interaction with UNC5B, and possibly also other UNC-5 family members (By similarity). Promotes neurite outgrowth (in vitro) (PubMed:14706654). Mediates cell-cell contacts that promote an increase both in neurite number and in neurite length. Plays a role in the regulation of the density of glutamaergic synapses. Plays a role in fibroblast growth factor-mediated signaling cascades. Required for normal morphogenesis during embryonic development, but not for normal embryonic patterning. Required for normal ventral closure, headfold fusion and definitive endoderm migration during embryonic development. Required for the formation of a normal basement membrane and the maintenance of a normal anterior visceral endoderm during embryonic development (By similarity). Proteolytic cleavage in the juxtamembrane region gives rise to a soluble ectodomain. Cleavage is probably effected by a metalloprotease.;N-glycosylated. NA Signaling by ROBO receptors;Downstream signaling of activated FGFR1 PE1 20 +NX_Q9NZU1 Leucine-rich repeat transmembrane protein FLRT1 646 71358 5.95 1 Endoplasmic reticulum membrane;Cell membrane;Cell junction;Focal adhesion;Secreted;Cytoplasmic vesicle membrane;Neuron projection;Perinuclear region NA Plays a role in fibroblast growth factor-mediated signaling cascades that lead to the activation of MAP kinases. Promotes neurite outgrowth via FGFR1-mediated activation of downstream MAP kinases. Promotes an increase both in neurite number and in neurite length. May play a role in cell-cell adhesion and cell guidance via its interaction with ADGRL1/LPHN1 and ADGRL3. Proteolytic cleavage in the juxtamembrane region gives rise to a soluble ectodomain.;N-glycosylated.;Phosphorylated in response to FGFR1 signaling, but is not a direct substrate of FGFR1 or SRC. A mutant where the Tyr phosphorylation sites have been replaced by Phe displays constitutive FGFR1-dependent activation of downstream MAP kinases. NA Downstream signaling of activated FGFR1 PE1 11 +NX_Q9NZU5 LIM and cysteine-rich domains protein 1 365 40833 8.27 0 Cytoplasm;Cell membrane;Cell junction;Nucleoplasm;Cytosol;Nucleus NA Transcriptional cofactor that restricts GATA6 function by inhibiting DNA-binding, resulting in repression of GATA6 transcriptional activation of downstream target genes. Represses GATA6-mediated trans activation of lung- and cardiac tissue-specific promoters. Inhibits DNA-binding by GATA4 and GATA1 to the cTNC promoter (By similarity). Plays a critical role in the development of cardiac hypertrophy via activation of calcineurin/nuclear factor of activated T-cells signaling pathway. NA NA Surfactant metabolism PE1 3 +NX_Q9NZU7 Calcium-binding protein 1 370 39838 8.65 0 Golgi apparatus;Cell cortex;Cell membrane;Postsynaptic density;Perinuclear region;Cytoskeleton NA Modulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors (ITPRs)(PubMed:14570872). Inhibits agonist-induced intracellular calcium signaling (PubMed:15980432). Enhances inactivation and does not support calcium-dependent facilitation of voltage-dependent P/Q-type calcium channels (PubMed:11865310). Causes calcium-dependent facilitation and inhibits inactivation of L-type calcium channels by binding to the same sites as calmodulin in the C-terminal domain of CACNA1C, but has an opposite effect on channel function (PubMed:15140941). Suppresses the calcium-dependent inactivation of CACNA1D (By similarity). Inhibits TRPC5 channels (PubMed:15895247). Prevents NMDA receptor-induced cellular degeneration. Required for the normal transfer of light signals through the retina (By similarity). Phosphorylated. The phosphorylation regulates the activity. NA NA PE1 12 +NX_Q9NZV1 Cysteine-rich motor neuron 1 protein 1036 113738 5.08 1 Secreted;Cell membrane NA May play a role in CNS development by interacting with growth factors implicated in motor neuron differentiation and survival. May play a role in capillary formation and maintenance during angiogenesis. Modulates BMP activity by affecting its processing and delivery to the cell surface. N-glycosylated. NA NA PE1 2 +NX_Q9NZV5 Selenoprotein N 590 65813 5.32 0 Cytosol;Endoplasmic reticulum membrane Myopathy, congenital, with fiber-type disproportion;Rigid spine muscular dystrophy 1 Essential for muscle regeneration and satellite cell maintenance in skeletal muscle (PubMed:21131290).;Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis. Regulates the calcium level of the ER by protecting the calcium pump ATP2A2 against the oxidoreductase ERO1A-mediated oxidative damage. Within the ER, ERO1A activity increases the concentration of H(2)O(2), which attacks the luminal thiols in ATP2A2 and thus leads to cysteinyl sulfenic acid formation (-SOH) and SEPN1 reduces the SOH back to free thiol (-SH), thus restoring ATP2A2 activity (PubMed:25452428). Acts as a modulator of ryanodine receptor (RyR) activity: protects RyR from oxidation due to increased oxidative stress, or directly controls the RyR redox state, regulating the RyR-mediated calcium mobilization required for normal muscle development and differentiation (PubMed:19557870, PubMed:18713863). N-glycosylated. NA NA PE1 1 +NX_Q9NZV6 Methionine-R-sulfoxide reductase B1 116 12760 8.64 0 Cytoplasm;Nucleus;Cytoskeleton NA Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases, methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residue. Acts as a regulator of actin assembly by reducing methionine (R)-sulfoxide mediated by MICALs (MICAL1, MICAL2 or MICAL3) on actin, thereby promoting filament repolymerization. Plays a role in innate immunity by reducing oxidized actin, leading to actin repolymerization in macrophages. NA Belongs to the MsrB Met sulfoxide reductase family. Protein repair PE1 16 +NX_Q9NZV7 Zinc finger imprinted 2 527 61164 6.3 0 Cytosol;Nucleus speckle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9NZV8 Potassium voltage-gated channel subfamily D member 2 630 70537 8.24 6 Dendritic spine;Cell membrane;Postsynaptic cell membrane;Perikaryon;Cell junction;Synapse;Dendrite NA Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Mediates the major part of the dendritic A-type current I(SA) in brain neurons (By similarity). This current is activated at membrane potentials that are below the threshold for action potentials. It regulates neuronal excitability, prolongs the latency before the first spike in a series of action potentials, regulates the frequency of repetitive action potential firing, shortens the duration of action potentials and regulates the back-propagation of action potentials from the neuronal cell body to the dendrites. Contributes to the regulation of the circadian rhythm of action potential firing in suprachiasmatic nucleus neurons, which regulates the circadian rhythm of locomotor activity (By similarity). Functions downstream of the metabotropic glutamate receptor GRM5 and plays a role in neuronal excitability and in nociception mediated by activation of GRM5 (By similarity). Mediates the transient outward current I(to) in rodent heart left ventricle apex cells, but not in human heart, where this current is mediated by another family member. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient (PubMed:10551270, PubMed:15454437, PubMed:14695263, PubMed:14623880, PubMed:14980201, PubMed:16934482, PubMed:24811166, PubMed:24501278). The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:11507158). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCND2 and KCND3; channel properties depend on the type of pore-forming alpha subunits that are part of the channel. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes. Interaction with specific isoforms of the regulatory subunits KCNIP1, KCNIP2, KCNIP3 or KCNIP4 strongly increases expression at the cell surface and thereby increases channel activity; it modulates the kinetics of channel activation and inactivation, shifts the threshold for channel activation to more negative voltage values, shifts the threshold for inactivation to less negative voltages and accelerates recovery after inactivation (PubMed:15454437, PubMed:14623880, PubMed:14980201, PubMed:19171772, PubMed:24501278, PubMed:24811166). Likewise, interaction with DPP6 or DPP10 promotes expression at the cell membrane and regulates both channel characteristics and activity (By similarity). Phosphorylation at Ser-438 in response to MAPK activation is increased in stimulated dendrites. Interaction with KCNIP2 and DPP6 propomtes phosphorylation by PKA at Ser-552. Phosphorylation at Ser-552 has no effect on interaction with KCNIP3, but is required for the regulation of channel activity by KCNIP3. Phosphorylation at Ser-552 leads to KCND2 internalization (By similarity). Phosphorylated by MAPK in response to signaling via the metabotropic glutamate receptor GRM5 (By similarity). Phosphorylation at Ser-616 is required for the down-regulation of neuronal A-type currents in response to signaling via GRM5 (By similarity). Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.2/KCND2 sub-subfamily. Voltage gated Potassium channels;Phase 1 - inactivation of fast Na+ channels PE1 7 +NX_Q9NZW4 Dentin sialophosphoprotein 1301 131151 3.58 0 Extracellular matrix Dentin dysplasia 2;Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1;Dentinogenesis imperfecta, Shields type 3;Dentinogenesis imperfecta, Shields type 2 DSP may be an important factor in dentinogenesis. DPP may bind high amount of calcium and facilitate initial mineralization of dentin matrix collagen as well as regulate the size and shape of the crystals. DSP is glycosylated. NA ECM proteoglycans PE1 4 +NX_Q9NZW5 MAGUK p55 subfamily member 6 540 61117 5.82 0 Membrane NA NA NA Belongs to the MAGUK family. NA PE1 7 +NX_Q9NZY2 Putative uncharacterized protein FAM30A 134 14626 6.88 0 NA NA NA NA NA NA PE5 14 +NX_Q9NZZ3 Charged multivesicular body protein 5 219 24571 4.68 0 Cytosol;Cytoskeleton;Midbody;Endosome membrane NA Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in HIV-1 p6- and p9-dependent virus release. ISGylated. Isgylation inhibits its interaction with VTA1. Belongs to the SNF7 family. Endocytosis;Budding and maturation of HIV virion;Endosomal Sorting Complex Required For Transport (ESCRT) PE1 9 +NX_Q9P000 COMM domain-containing protein 9 198 21819 5.6 0 Golgi apparatus;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966). Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits (PubMed:23637203). NA NA Neutrophil degranulation;Neddylation PE1 11 +NX_Q9P003 Protein cornichon homolog 4 139 16093 6.16 3 Membrane;Endoplasmic reticulum;Endoplasmic reticulum-Golgi intermediate compartment NA Involved in G protein-coupled receptors (GPCRs) trafficking from the endoplasmic reticulum to the cell surface; it promotes the exit of GPCRs from the early secretory pathway, likely through interaction with the COPII machinery (PubMed:24405750). NA Belongs to the cornichon family. NA PE1 1 +NX_Q9P013 Spliceosome-associated protein CWC15 homolog 229 26624 5.55 0 Nucleus speckle;Nucleus;Mitochondrion NA Involved in pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:28076346). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. NA Belongs to the CWC15 family. Spliceosome;mRNA Splicing - Major Pathway PE1 11 +NX_Q9P015 39S ribosomal protein L15, mitochondrial 296 33420 10.02 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uL15 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 8 +NX_Q9P016 Thymocyte nuclear protein 1 225 25697 9.3 0 Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC. Phosphorylated. NA NA PE1 11 +NX_Q9P021 Cysteine-rich PDZ-binding protein 101 11216 9.57 0 Cytoplasm;Dendritic spine;Nucleolus;Nucleoplasm;Synapse Short stature with microcephaly and distinctive facies Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses. NA Belongs to the CRIPT family. NA PE1 2 +NX_Q9P031 Thyroid transcription factor 1-associated protein 26 241 28670 9.89 0 Nucleoplasm;Nucleolus;Nucleus;Cell membrane NA Component of the transcription complexes of the pulmonary surfactant-associated protein-B (SFTPB) and -C (SFTPC). Enhances homeobox protein Nkx-2.1-activated SFTPB and SFTPC promoter activities. NA Belongs to the TAP26 family. Surfactant metabolism PE1 12 +NX_Q9P032 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4 175 20266 8.85 0 Membrane;Mitochondrion Mitochondrial complex I deficiency, nuclear type 15 Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:18179882, PubMed:28853723). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion. Phosphorylated on serine. Prolactin stimulate serine phosphorylation (By similarity). Belongs to the NDUFAF4 family. Complex I biogenesis PE1 6 +NX_Q9P035 Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3 362 43160 9.04 6 Endoplasmic reticulum;Cytoplasm;Endoplasmic reticulum membrane;Cell membrane NA Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May be involved in Rac1-signaling pathways leading to the modulation of gene expression. Promotes insulin receptor/INSR autophosphorylation and is involved in INSR internalization (PubMed:25687571). NA Belongs to the very long-chain fatty acids dehydratase HACD family. Lipid metabolism; fatty acid biosynthesis.;Synthesis of very long-chain fatty acyl-CoAs PE1 15 +NX_Q9P055 JNK1/MAPK8-associated membrane protein 319 36169 8.18 7 Endoplasmic reticulum;Nucleoplasm;Endoplasmic reticulum membrane;Cytoplasmic vesicle NA May be a regulator of the duration of MAPK8 activity in response to various stress stimuli. Facilitates degradation of misfolded endoplasmic reticulum (ER) luminal proteins through the recruitment of components of the proteasome and endoplasmic reticulum-associated degradation (ERAD) system (By similarity). Ubiquitinated by RNF5 via 'Lys-63'-linked ubiquitin linkage in a UBE2N-dependent manner. Ubiquitination decreases association with components of the proteasome and ERAD (By similarity). NA NA PE1 14 +NX_Q9P086 Mediator of RNA polymerase II transcription subunit 11 117 13129 5.71 0 Nucleoplasm;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 11 family. PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 17 +NX_Q9P0B6 Coiled-coil domain-containing protein 167 97 11459 9.52 1 Membrane;Cytosol NA NA NA NA NA PE1 6 +NX_Q9P0G3 Kallikrein-14 267 29122 9.47 0 Extracellular space NA Serine-type endopeptidase with a dual trypsin-like and chymotrypsin-like substrate specificity. May activate/inactivate the proteinase-activated receptors F2R, F2RL1 and F2RL3 and other kallikreins including KLK1, KLK3, KLK5 and KLK11. May function in seminal clot liquefaction through direct cleavage of the semenogelin SEMG1 and SEMG2 and activation of KLK3. May function through desmoglein DSG1 cleavage in epidermal desquamation a process by which the most superficial corneocytes are shed from the skin surface. May be involved in several aspects of tumor progression including growth, invasion and angiogenesis. Proteolytic cleavage of the activation peptide produces the active enzyme. Belongs to the peptidase S1 family. Kallikrein subfamily. Formation of the cornified envelope PE1 19 +NX_Q9P0I2 ER membrane protein complex subunit 3 261 29952 6.33 2 Membrane;Cytosol;Cytoskeleton NA NA NA Belongs to the EMC3 family. NA PE1 3 +NX_Q9P0J0 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 144 16698 8.02 1 Mitochondrion inner membrane;Mitochondrion;Nucleus Mitochondrial complex I deficiency, nuclear type 28;Hurthle cell thyroid carcinoma Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:27626371). Involved in the interferon/all-trans-retinoic acid (IFN/RA) induced cell death. This apoptotic activity is inhibited by interaction with viral IRF1. Prevents the transactivation of STAT3 target genes. May play a role in CARD15-mediated innate mucosal responses and serve to regulate intestinal epithelial cell responses to microbes (PubMed:15753091). NA Belongs to the complex I NDUFA13 subunit family. Oxidative phosphorylation;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 19 +NX_Q9P0J1 [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial 537 61054 6.2 0 Nucleoplasm;Mitochondrion matrix;Mitochondrion;Cytosol Pyruvate dehydrogenase phosphatase deficiency Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex. NA Belongs to the PP2C family. Regulation of pyruvate dehydrogenase (PDH) complex PE1 8 +NX_Q9P0J6 39S ribosomal protein L36, mitochondrial 103 11784 11.27 0 Mitochondrion;Nucleus NA NA NA Belongs to the bacterial ribosomal protein bL36 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 5 +NX_Q9P0J7 E3 ubiquitin-protein ligase KCMF1 381 41945 5.41 0 Nucleoplasm;Cytosol NA Has intrinsic E3 ubiquitin ligase activity and promotes ubiquitination. NA Belongs to the KCMF1 family. Neutrophil degranulation PE1 2 +NX_Q9P0K1 Disintegrin and metalloproteinase domain-containing protein 22 906 100433 6.91 1 Cell junction;Axon;Cell membrane Epileptic encephalopathy, early infantile, 61 Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein (PubMed:19692335). Involved in regulation of cell adhesion and spreading and in inhibition of cell proliferation. Neuronal receptor for LGI1. The precursor is cleaved by a furin endopeptidase. NA LGI-ADAM interactions PE1 7 +NX_Q9P0K7 Ankycorbin 980 110041 5.87 0 Cell cortex;Cell junction;Nucleoplasm;Stress fiber;Cytosol;Nucleus;Cytoskeleton NA Plays a role in actin regulation at the ectoplasmic specialization, a type of cell junction specific to testis. Important for establishment of sperm polarity and normal spermatid adhesion. May also promote integrity of Sertoli cell tight junctions at the blood-testis barrier. NA NA NA PE1 5 +NX_Q9P0K8 Forkhead box protein J2 574 62395 6.2 0 Nucleoplasm;Nucleolus;Nucleus NA Transcriptional activator. Able to bind to two different type of DNA binding sites.;Behaves as a more potent transactivator than FOXJ2.S. NA NA NA PE1 12 +NX_Q9P0K9 DOMON domain-containing protein FRRS1L 344 37270 7.55 1 Synapse;Cell membrane Epileptic encephalopathy, early infantile, 37 Important modulator of glutamate signaling pathway. NA NA NA PE1 9 +NX_Q9P0L0 Vesicle-associated membrane protein-associated protein A 249 27893 8.8 1 Endoplasmic reticulum membrane;Cell membrane;Nucleus membrane;Endoplasmic reticulum;Tight junction NA Binds to OSBPL3, which mediates recruitment of VAPA to plasma membrane sites (PubMed:25447204). The ORP3-VAPA complex stimulates RRAS signaling which in turn attenuates integrin beta-1 (ITGB1) activation at the cell surface (PubMed:25447204). With OSBPL3, may regulate ER morphology (PubMed:16143324). May play a role in vesicle trafficking (PubMed:11511104, PubMed:19289470). NA Belongs to the VAMP-associated protein (VAP) (TC 9.B.17) family. Tight junction;Sphingolipid de novo biosynthesis;Neutrophil degranulation;Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 18 +NX_Q9P0L1 Zinc finger protein with KRAB and SCAN domains 7 754 85033 7.26 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 3 +NX_Q9P0L2 Serine/threonine-protein kinase MARK1 795 89003 9.42 0 Cytoplasm;Dendrite;Cell membrane;Cytoskeleton NA Serine/threonine-protein kinase (PubMed:23666762). Involved in cell polarity and microtubule dynamics regulation. Phosphorylates DCX, MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Involved in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Involved in the regulation of neuronal migration through its dual activities in regulating cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DCX. Also acts as a positive regulator of the Wnt signaling pathway, probably by mediating phosphorylation of dishevelled proteins (DVL1, DVL2 and/or DVL3). Phosphorylation at Thr-613 by PRKCZ/aPKC in polarized epithelial cells inhibits the kinase activity (By similarity). Phosphorylated at Thr-215 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Phosphorylation at Thr-215 by TAOK1 activates the kinase activity, leading to phosphorylation and detachment of MAPT/TAU from microtubules. Phosphorylation at Ser-219 by GSK3-beta (GSK3B) inhibits the kinase activity. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily. NA PE1 1 +NX_Q9P0L9 Polycystic kidney disease 2-like 1 protein 805 91982 5.34 6 Cilium membrane;Cytoplasmic vesicle;Cell membrane NA Pore-forming subunit of a heterotetrameric, non-selective cation channel that is permeable to Ca(2+) (PubMed:10517637, PubMed:11959145, PubMed:25820328, PubMed:27754867, PubMed:29425510, PubMed:23212381, PubMed:30004384). Pore-forming subunit of a calcium-permeant ion channel formed by PKD1L2 and PKD1L1 in primary cilia, where it controls cilium calcium concentration, but does not affect cytoplasmic calcium concentration (PubMed:24336289). The channel formed by PKD1L2 and PKD1L1 in primary cilia regulates sonic hedgehog/SHH signaling and GLI2 transcription (PubMed:24336289). Pore-forming subunit of a channel formed by PKD1L2 and PKD1L3 that contributes to sour taste perception in gustatory cells (PubMed:19812697). The heteromeric channel formed by PKD1L2 and PKD1L3 is activated by low pH, but opens only when the extracellular pH rises again (PubMed:23212381). May play a role in the perception of carbonation taste (By similarity). May play a role in the sensory perception of water, via a mechanism that activates the channel in response to dilution of salivary bicarbonate and changes in salivary pH (By similarity). Palmitoylation is important for expression at the cell membrane and for channel activity. Belongs to the polycystin family. NA PE1 10 +NX_Q9P0M2 A-kinase anchor protein 7 isoform gamma 348 39518 5.85 0 Cytoplasmic vesicle;Cytoplasm;Nucleus NA Probably targets cAMP-dependent protein kinase (PKA) to the cellular membrane or cytoskeletal structures. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium. NA NA NA PE1 6 +NX_Q9P0M4 Interleukin-17C 197 21765 8.44 0 Secreted NA Cytokine that plays a crucial role in innate immunity of the epithelium, including to intestinal bacterial pathogens, in an autocrine manner. Stimulates the production of antibacterial peptides and proinflammatory molecules for host defense by signaling through the NF-kappa-B and MAPK pathways. Acts synergically with IL22 in inducing the expression of antibacterial peptides, including S100A8, S100A9, REG3A and REG3G. Synergy is also observed with TNF and IL1B in inducing DEFB2 from keratinocytes. Depending on the type of insult, may have both protective and pathogenic properties, either by maintaining epithelial homeostasis after an inflammatory challenge or by promoting inflammatory phenotype. Enhanced IL17C/IL17RE signaling may also lead to greater susceptibility to autoimmune diseases. NA Belongs to the IL-17 family. Interleukin-17 signaling PE1 16 +NX_Q9P0M6 Core histone macro-H2A.2 372 40058 9.71 0 Nucleoplasm;Nucleus;Chromosome NA Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in stable X chromosome inactivation. NA NA Systemic lupus erythematosus PE1 10 +NX_Q9P0M9 39S ribosomal protein L27, mitochondrial 148 16073 10.42 0 Mitochondrion NA NA NA Belongs to the bacterial ribosomal protein bL27 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 17 +NX_Q9P0N5 Transmembrane protein 216 145 16487 9.39 4 Membrane;Cilium basal body Joubert syndrome 2;Meckel syndrome 2 Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. NA NA Anchoring of the basal body to the plasma membrane PE1 11 +NX_Q9P0N8 E3 ubiquitin-protein ligase MARCH2 246 26995 7.46 2 Endoplasmic reticulum membrane;Endosome membrane;Lysosome membrane;Endoplasmic reticulum;Cytosol NA E3 ubiquitin-protein ligase that may mediate ubiquitination of TFRC and CD86, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May be involved in endosomal trafficking through interaction with STX6. NA NA Protein modification; protein ubiquitination. PE1 19 +NX_Q9P0N9 TBC1 domain family member 7 293 33972 8.08 0 Cytoplasmic vesicle Macrocephaly/megalencephaly syndrome, autosomal recessive Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids, by mTORC1. It is unclear whether TBC1D7 acts as a GTPase-activating protein and additional studies are required to answer this question. NA NA TBC/RABGAPs PE1 6 +NX_Q9P0P0 E3 ubiquitin-protein ligase RNF181 153 17909 4.93 0 Nucleoplasm;Cytosol NA E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Auto-ubiquitinated as part of the enzymatic reaction. Belongs to the RNF181 family. Protein modification; protein ubiquitination.;E3 ubiquitin ligases ubiquitinate target proteins PE1 2 +NX_Q9P0P8 Mitochondrial transcription rescue factor 1 240 27941 9.31 0 Mitochondrion matrix NA Mitochondrial RNA-binding protein involved in mitochondrial transcription regulation. Functions as a protective factor to maintain proper mitochondrial RNA level during stress. Acts at the transcription level and its protective function depends on its RNA binding ability. NA NA NA PE1 6 +NX_Q9P0R6 GSK3B-interacting protein 139 15648 4.36 0 Golgi apparatus;Cytoplasm;Nucleolus;Cytoplasmic vesicle;Nucleus NA A-kinase anchoring protein for GSK3B and PKA that regulates or facilitates their kinase activity towards their targets (PubMed:27484798, PubMed:25920809, PubMed:16981698). The ternary complex enhances Wnt-induced signaling by facilitating the GSK3B- and PKA-induced phosphorylation of beta-catenin leading to beta-catenin degradation and stabilization respectively (PubMed:27484798, PubMed:16981698). Upon cAMP activation, the ternary complex contributes to neuroprotection against oxidative stress-induced apoptosis by facilitating the PKA-induced phosphorylation of DML1 and PKA-induced inactivation of GSK3B (PubMed:25920809). During neurite outgrowth promotes neuron proliferation; while increases beta-catenin-induced transcriptional activity through GSK3B kinase activity inhibition, reduces N-cadherin level to promote cell cycle progression (PubMed:19830702). Phosphorylated by GSK3B. Belongs to the GSKIP family. NA PE1 14 +NX_Q9P0S2 Cytochrome c oxidase assembly protein COX16 homolog, mitochondrial 106 12293 9.49 1 Cytoplasm;Mitochondrion inner membrane;Mitochondrion;Cell membrane NA Required for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase (PubMed:29355485, PubMed:29381136). Promotes the insertion of copper into the active site of cytochrome c oxidase subunit II (MT-CO2/COX2) (PubMed:29355485, PubMed:29381136). Interacts specifically with newly synthesized MT-CO2/COX and its copper center-forming metallochaperones SCO1, SCO2 and COA6 (PubMed:29381136). Probably facilitates MT-CO2/COX2 association with the MITRAC assembly intermediate containing MT-CO1/COX1, thereby participating in merging the MT-CO1/COX1 and MT-CO2/COX2 assembly lines (PubMed:29381136). NA Belongs to the COX16 family. Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 14 +NX_Q9P0S3 ORM1-like protein 1 153 17371 9.64 2 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Negative regulator of sphingolipid synthesis. NA Belongs to the ORM family. Sphingolipid de novo biosynthesis PE1 2 +NX_Q9P0S9 Transmembrane protein 14C 112 11565 9.87 4 Mitochondrion membrane NA Required for normal heme biosynthesis. NA Belongs to the TMEM14 family. NA PE1 6 +NX_Q9P0T4 Zinc finger protein 581 197 22010 9.16 0 Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 19 +NX_Q9P0T7 Transmembrane protein 9 183 20574 6.21 1 Endoplasmic reticulum;Lysosome membrane;Late endosome membrane NA May be involved in intracellular transport. N-glycosylated. Belongs to the TMEM9 family. NA PE1 1 +NX_Q9P0U1 Mitochondrial import receptor subunit TOM7 homolog 55 6248 10.28 1 Mitochondrion outer membrane;Cytoplasm;Mitochondrion NA Required for assembly and stability of the TOM complex. Positive regulator of PRKN translocation to damaged mitochondria. Acts probably by stabilizing PINK1 on the outer membrane of depolarized mitochondria. NA Belongs to the Tom7 family. Mitochondrial protein import;Pink/Parkin Mediated Mitophagy PE1 7 +NX_Q9P0U3 Sentrin-specific protease 1 644 73481 8.69 0 Nucleoplasm;Cytoplasm;Focal adhesion;Nucleus NA Protease that catalyzes two essential functions in the SUMO pathway (PubMed:10652325, PubMed:15199155, PubMed:16253240, PubMed:16553580, PubMed:21829689, PubMed:21965678, PubMed:23160374, PubMed:24943844, PubMed:25406032, PubMed:29506078). The first is the hydrolysis of an alpha-linked peptide bond at the C-terminal end of the small ubiquitin-like modifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to the mature form of the proteins. The second is the deconjugation of SUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving an epsilon-linked peptide bond between the C-terminal glycine of the mature SUMO and the lysine epsilon-amino group of the target protein. Deconjugates SUMO1 from HIPK2 (PubMed:16253240). Deconjugates SUMO1 from HDAC1 and BHLHE40/DEC1, which decreases its transcriptional repression activity (PubMed:21829689). Deconjugates SUMO1 from CLOCK, which decreases its transcriptional activation activity (PubMed:23160374). Deconjugates SUMO2 from MTA1 (PubMed:21965678). Deconjugates SUMO1 from METTL3 (PubMed:29506078). Desumoylates CCAR2 which decreases its interaction with SIRT1 (PubMed:25406032). Deconjugates SUMO1 from GPS2 (PubMed:24943844). NA Belongs to the peptidase C48 family. SUMO is proteolytically processed PE1 12 +NX_Q9P0U4 CXXC-type zinc finger protein 1 656 75712 8.61 0 Nucleoplasm;Nucleus speckle;Nucleus NA Transcriptional activator that exhibits a unique DNA binding specificity for CpG unmethylated motifs with a preference for CpGG. May be regulated by proteolysis. NA XBP1(S) activates chaperone genes PE1 18 +NX_Q9P0V3 SH3 domain-binding protein 4 963 107496 7.77 0 Clathrin-coated vesicle;Clathrin-coated pit;Nucleus NA May function in transferrin receptor internalization at the plasma membrane through a cargo-specific control of clathrin-mediated endocytosis. Alternatively, may act as a negative regulator of the amino acid-induced TOR signaling by inhibiting the formation of active Rag GTPase complexes. Preferentially binds inactive Rag GTPase complexes and prevents their interaction with the mTORC1 complex inhibiting its relocalization to lysosomes and its activation. Thereby, may indirectly regulate cell growth, proliferation and autophagy. Phosphorylated upon EGF stimulation. Phosphorylation prevents interaction with DNM2. NA NA PE1 2 +NX_Q9P0V8 SLAM family member 8 285 31670 5.8 1 Membrane NA May play a role in B-lineage commitment and/or modulation of signaling through the B-cell receptor. NA NA NA PE1 1 +NX_Q9P0V9 Septin-10 454 52593 6.35 0 Cytoplasm;Cytoskeleton;Cell membrane NA Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential). NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. NA PE1 2 +NX_Q9P0W0 Interferon kappa 207 25218 8.66 0 Secreted NA May play a role in the regulation of immune cell function. Cytokine that imparts cellular protection against viral infection in a species-specific manner. Activates the interferon-stimulated response element signaling pathway. It is able to directly modulate cytokine release from monocytes and dendritic cells. Binds heparin. NA Belongs to the alpha/beta interferon family. Cytokine-cytokine receptor interaction;RIG-I-like receptor signaling pathway;Jak-STAT signaling pathway PE1 9 +NX_Q9P0W2 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related 317 35813 9.38 0 Nucleoplasm;Nucleus;Chromosome NA Required for correct progression through G2 phase of the cell cycle and entry into mitosis. Required for RCOR1/CoREST mediated repression of neuronal specific gene promoters. NA NA Factors involved in megakaryocyte development and platelet production;HDACs deacetylate histones PE1 19 +NX_Q9P0W8 Spermatogenesis-associated protein 7 599 67719 5.9 0 Mitochondrion;Photoreceptor outer segment;Cilium basal body;Nucleoplasm;Cilium axoneme;Cytosol;Cytoskeleton Leber congenital amaurosis 3;Retinitis pigmentosa autosomal recessive Involved in the maintenance of both rod and cone photoreceptor cells (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as photoreceptor-specific localization of proximal CC proteins at the distal CC (By similarity). Maintenance of protein localization at the photoreceptor-specific distal CC is essential for normal microtubule stability and to prevent photoreceptor degeneration (By similarity). NA NA NA PE1 14 +NX_Q9P0X4 Voltage-dependent T-type calcium channel subunit alpha-1I 2223 245103 6.09 24 Membrane NA Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. Gates in voltage ranges similar to, but higher than alpha 1G or alpha 1H (By similarity). In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II. Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1I subfamily. MAPK signaling pathway;Calcium signaling pathway;NCAM1 interactions PE1 22 +NX_Q9P0Z9 Peroxisomal sarcosine oxidase 390 44066 8.67 0 Peroxisome NA Metabolizes sarcosine, L-pipecolic acid and L-proline. NA Belongs to the MSOX/MTOX family. Glycine, serine and threonine metabolism;Lysine degradation;Metabolic pathways;Peroxisome;Lysine catabolism;Peroxisomal protein import PE1 17 +NX_Q9P104 Docking protein 5 306 35464 9.02 0 Focal adhesion NA DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK5 functions in RET-mediated neurite outgrowth and plays a positive role in activation of the MAP kinase pathway. Putative link with downstream effectors of RET in neuronal differentiation. Phosphorylated on tyrosine residues in response to insulin, IGF1 and GDNF. Belongs to the DOK family. Type B subfamily. RET signaling PE1 20 +NX_Q9P107 GEM-interacting protein 970 106683 5.5 0 Nucleoplasm;Cytosol;Cell membrane NA Stimulates, in vitro and in vivo, the GTPase activity of RhoA. NA NA Rho GTPase cycle PE1 19 +NX_Q9P109 Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 453 53052 8.48 1 Golgi apparatus;Nucleoplasm;Golgi apparatus membrane NA Glycosyltransferase that mediates core 2 O-glycan branching, an important step in mucin-type biosynthesis. Does not have core 4 O-glycan or I-branching enzyme activity. NA Belongs to the glycosyltransferase 14 family. Protein modification; protein glycosylation.;Mucin type O-Glycan biosynthesis;Metabolic pathways;O-linked glycosylation of mucins PE1 5 +NX_Q9P121 Neurotrimin 344 37971 7.98 0 Cell membrane NA Neural cell adhesion molecule. NA Belongs to the immunoglobulin superfamily. IgLON family. Post-translational modification: synthesis of GPI-anchored proteins PE1 11 +NX_Q9P126 C-type lectin domain family 1 member B 229 26596 8.79 1 Membrane NA (Microbial infection) Acts as a receptor for the platelet-aggregating snake venom protein rhodocytin. Rhodocytin binding leads to tyrosine phosphorylation and this promotes the binding of spleen tyrosine kinase (SYK) and initiation of downstream tyrosine phosphorylation events and activation of PLCG2 (PubMed:16174766, PubMed:18955485).;(Microbial infection) Acts as an attachment factor for Human immunodeficiency virus type 1 (HIV-1) and facilitates its capture by platelets (PubMed:16940507).;C-type lectin-like receptor that functions as a platelet receptor for the lymphatic endothelial marker, PDPN (PubMed:18215137). After ligand activation, signals via sequential activation of SRC and SYK tyrosine kinases leading to activation of PLCG2 (PubMed:18955485). Glycosylated.;Phosphorylated on tyrosine residue in response to rhodocytin binding. NA GPVI-mediated activation cascade PE1 12 +NX_Q9P127 Leucine zipper protein 4 313 35937 9.47 0 Cytoplasm;Nucleus NA Export adapter involved in mRNA nuclear export in cancer cells. Binds and enhances the RNA-binding activity of the nuclear RNA export factor NXF1. Can restore mRNA export function in cells compromised by loss of mRNA export adapters (PubMed:25662211). NA NA Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 X +NX_Q9P1A2 Putative serine/threonine-protein phosphatase 4 regulatory subunit 1-like 415 45908 4.62 0 NA NA May be a regulatory subunit of serine/threonine-protein phosphatase 4. NA NA NA PE5 20 +NX_Q9P1A6 Disks large-associated protein 2 1054 117620 6.42 0 Postsynaptic density;Synapse;Cell membrane NA May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane. NA Belongs to the SAPAP family. Neurexins and neuroligins PE1 8 +NX_Q9P1C3 Putative uncharacterized protein PRO2829 46 5407 10.93 0 Secreted NA NA NA NA NA PE5 14 +NX_Q9P1D8 Putative uncharacterized protein PRO2289 64 6607 11.3 0 NA NA NA NA NA NA PE5 16 +NX_Q9P1F3 Costars family protein ABRACL 81 9056 5.86 0 Nucleoplasm;Cytosol NA NA NA Belongs to the costars family. NA PE1 6 +NX_Q9P1G2 Putative uncharacterized protein encoded by RBM12B-AS1 102 11378 8.77 0 NA NA NA NA NA NA PE5 8 +NX_Q9P1J3 Putative uncharacterized protein DHRS4-AS1 65 7343 6.54 0 NA NA NA NA NA NA PE5 14 +NX_Q9P1P4 Putative trace amine-associated receptor 3 343 39065 8.7 7 Cell membrane NA NA NA Belongs to the G-protein coupled receptor 1 family. G alpha (s) signalling events;Amine ligand-binding receptors PE5 6 +NX_Q9P1P5 Trace amine-associated receptor 2 351 40134 8.91 7 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (s) signalling events;Amine ligand-binding receptors PE2 6 +NX_Q9P1Q0 Vacuolar protein sorting-associated protein 54 977 110589 6.1 0 trans-Golgi network;Golgi apparatus;Nucleoplasm NA Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (PubMed:18367545). Within the GARP complex, required to tether the complex to the TGN. Not involved in endocytic recycling (PubMed:25799061). NA Belongs to the VPS54 family. Retrograde transport at the Trans-Golgi-Network PE1 2 +NX_Q9P1Q5 Olfactory receptor 1A1 309 34565 8.96 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 17 +NX_Q9P1T7 MyoD family inhibitor domain-containing protein 246 25788 5.09 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Nucleolus NA Acts as a transcriptional activator or repressor. Inhibits the transcriptional activation of Zic family proteins ZIC1, ZIC2 and ZIC3. Retains nuclear Zic proteins ZIC1, ZIC2 and ZIC3 in the cytoplasm. Modulates the expression from both cellular and viral promoters. Down-regulates Tat-dependent transcription of the human immunodeficiency virus type 1 (HIV-1) LTR by interacting with HIV-1 Tat and Rev and impairing their nuclear import, probably by rendering the NLS domains inaccessible to importin-beta. Also stimulates activation of human T-cell leukemia virus type I (HTLV-I) LTR. Binds to the axin complex, resulting in an increase in the level of free beta-catenin. Affects axin regulation of the WNT and JNK signaling pathways. NA Belongs to the MDFI family. NA PE1 7 +NX_Q9P1U0 DNA-directed RNA polymerase I subunit RPA12 126 13904 4.9 0 Nucleolus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. NA Belongs to the archaeal RpoM/eukaryotic RPA12/RPB9/RPC11 RNA polymerase family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;NoRC negatively regulates rRNA expression;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Transcription Termination;B-WICH complex positively regulates rRNA expression PE1 6 +NX_Q9P1U1 Actin-related protein 3B 418 47608 5.61 0 Cell projection;Cytoskeleton NA Plays a role in the organization of the actin cytoskeleton. May function as ATP-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. May decrease the metastatic potential of tumors. NA Belongs to the actin family. ARP3 subfamily. NA PE1 7 +NX_Q9P1V8 Sterile alpha motif domain-containing protein 15 674 77151 4.43 0 Nucleoplasm;Nucleolus;Nucleus membrane NA NA NA NA NA PE1 14 +NX_Q9P1W3 Calcium permeable stress-gated cation channel 1 806 93317 6.59 10 Membrane;Centrosome NA Acts as an osmosensitive calcium-permeable cation channel. NA Belongs to the CSC1 (TC 1.A.17) family. NA PE1 14 +NX_Q9P1W8 Signal-regulatory protein gamma 387 42498 6.71 1 Membrane NA Probable immunoglobulin-like cell surface receptor. On binding with CD47, mediates cell-cell adhesion. Engagement on T-cells by CD47 on antigen-presenting cells results in enhanced antigen-specific T-cell proliferation and costimulates T-cell activation. NA NA Osteoclast differentiation;Cell surface interactions at the vascular wall;Signal regulatory protein family interactions PE1 20 +NX_Q9P1W9 Serine/threonine-protein kinase pim-2 311 34190 5.58 0 Cytosol NA Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation. Exerts its oncogenic activity through: the regulation of MYC transcriptional activity, the regulation of cell cycle progression, the regulation of cap-dependent protein translation and through survival signaling by phosphorylation of a pro-apoptotic protein, BAD. Phosphorylation of MYC leads to an increase of MYC protein stability and thereby an increase transcriptional activity. The stabilization of MYC exerted by PIM2 might explain partly the strong synergism between these 2 oncogenes in tumorigenesis. Regulates cap-dependent protein translation in a mammalian target of rapamycin complex 1 (mTORC1)-independent manner and in parallel to the PI3K-Akt pathway. Mediates survival signaling through phosphorylation of BAD, which induces release of the anti-apoptotic protein Bcl-X(L)/BCL2L1. Promotes cell survival in response to a variety of proliferative signals via positive regulation of the I-kappa-B kinase/NF-kappa-B cascade; this process requires phosphorylation of MAP3K8/COT. Promotes growth factor-independent proliferation by phosphorylation of cell cycle factors such as CDKN1A and CDKN1B. Involved in the positive regulation of chondrocyte survival and autophagy in the epiphyseal growth plate. Autophosphorylated. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. PIM subfamily. Acute myeloid leukemia PE1 X +NX_Q9P1Y5 Calmodulin-regulated spectrin-associated protein 3 1249 134750 8.61 0 Cytoplasm;Adherens junction;Nucleoplasm;Centrosome;Cytoskeleton NA Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19041755, PubMed:23169647). Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization (PubMed:24486153). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153). In addition, it also reduces the velocity of microtubule polymerization (PubMed:24486153). Required for the biogenesis and the maintenance of zonula adherens by anchoring the minus-end of microtubules to zonula adherens and by recruiting the kinesin KIFC3 to those junctional sites (PubMed:19041755). Required for orienting the apical-to-basal polarity of microtubules in epithelial cells: acts by tethering non-centrosomal microtubules to the apical cortex, leading to their longitudinal orientation (PubMed:27802168, PubMed:26715742). Plays a key role in early embryos, which lack centrosomes: accumulates at the microtubule bridges that connect pairs of cells and enables the formation of a non-centrosomal microtubule-organizing center that directs intracellular transport in the early embryo (By similarity). Couples non-centrosomal microtubules with actin: interaction with MACF1 at the minus ends of non-centrosomal microtubules, tethers the microtubules to actin filaments, regulating focal adhesion size and cell migration (PubMed:27693509). Plays a key role in the generation of non-centrosomal microtubules by accumulating in the pericentrosomal region and cooperating with KATNA1 to release non-centrosomal microtubules from the centrosome (PubMed:28386021). Through the microtubule cytoskeleton, also regulates the organization of cellular organelles including the Golgi and the early endosomes (PubMed:28089391). Through interaction with AKAP9, involved in translocation of Golgi vesicles in epithelial cells, where microtubules are mainly non-centrosomal (PubMed:28089391). NA Belongs to the CAMSAP1 family. NA PE1 19 +NX_Q9P1Y6 PHD and RING finger domain-containing protein 1 1649 178666 9.15 0 NA NA NA NA NA NA PE1 11 +NX_Q9P1Z0 Zinc finger and BTB domain-containing protein 4 1013 105114 8.65 0 Nucleoplasm;Cytosol;Nucleus;Chromosome NA Transcriptional repressor with bimodal DNA-binding specificity. Represses transcription in a methyl-CpG-dependent manner. Binds with a higher affinity to methylated CpG dinucleotides in the consensus sequence 5'-CGCG-3' but can also bind to the non-methylated consensus sequence 5'-CTGCNA-3' also known as the consensus kaiso binding site (KBS). Can also bind specifically to a single methyl-CpG pair and can bind hemimethylated DNA but with a lower affinity compared to methylated DNA (PubMed:16354688). Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal (By similarity). Phosphorylated by HIPK2. This phosphorylation reduces stability and triggers ZBTB4 protein degradation in response to DNA damage. NA NA PE1 17 +NX_Q9P1Z2 Calcium-binding and coiled-coil domain-containing protein 1 691 77336 4.77 0 Cytoplasm;Cytosol;Nucleus;Cytoplasmic vesicle NA Seems to enhance inorganic pyrphosphatase thus activating phosphogluomutase (PMG). Probably functions as component of the calphoglin complex, which is involved in linking cellular metabolism (phosphate and glucose metabolism) with other core functions including protein synthesis and degradation, calcium signaling and cell growth.;Functions as a coactivator for aryl hydrocarbon and nuclear receptors (NR). Recruited to promoters through its contact with the N-terminal basic helix-loop-helix-Per-Arnt-Sim (PAS) domain of transcription factors or coactivators, such as NCOA2. During ER-activation acts synergistically in combination with other NCOA2-binding proteins, such as EP300, CREBBP and CARM1. Involved in the transcriptional activation of target genes in the Wnt/CTNNB1 pathway. Functions as a secondary coactivator in LEF1-mediated transcriptional activation via its interaction with CTNNB1. Coactivator function for nuclear receptors and LEF1/CTNNB1 involves differential utilization of two different activation regions (By similarity). In association with CCAR1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781). NA Belongs to the CALCOCO family. NA PE1 12 +NX_Q9P1Z3 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 774 86032 9.75 6 Cell membrane NA Hyperpolarization-activated potassium channel. May also facilitate the permeation of sodium ions. NA Belongs to the potassium channel HCN family. HCN channels PE1 1 +NX_Q9P1Z9 Coiled-coil domain-containing protein 180 1701 197344 5.75 0 NA NA NA NA NA NA PE1 9 +NX_Q9P202 Whirlin 907 96558 8.74 0 Cytoplasm;Photoreceptor inner segment;Growth cone;Synapse;Stereocilium Deafness, autosomal recessive, 31;Usher syndrome 2D Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. NA NA NA PE1 9 +NX_Q9P203 BTB/POZ domain-containing protein 7 1132 126368 6.51 0 Focal adhesion;Nucleus NA Acts as a mediator of epithelial dynamics and organ branching by promoting cleft progression. Induced following accumulation of fibronectin in forming clefts, leading to local expression of the cell-scattering SNAIL2 and suppression of E-cadherin levels, thereby altering cell morphology and reducing cell-cell adhesion. This stimulates cell separation at the base of forming clefts by local, dynamic intercellular gap formation and promotes cleft progression (By similarity). NA NA NA PE1 14 +NX_Q9P206 Uncharacterized protein KIAA1522 1035 107095 9.75 0 Nucleoplasm;Cell junction;Cell membrane NA NA NA NA NA PE1 1 +NX_Q9P209 Centrosomal protein of 72 kDa 647 71718 6.08 0 Centriolar satellite;Centrosome NA Involved in the recruitment of key centrosomal proteins to the centrosome. Provides centrosomal microtubule-nucleation activity on the gamma-tubulin ring complexes (gamma-TuRCs) and has critical roles in forming a focused bipolar spindle, which is needed for proper tension generation between sister chromatids. Required for localization of KIZ, AKAP9 and gamma-tubulin ring complexes (gamma-TuRCs) (PubMed:19536135). Involved in centriole duplication. Required for CDK5RAP22, CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:26297806). NA Belongs to the CEP72 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 5 +NX_Q9P212 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 2302 258715 6.07 0 Golgi apparatus membrane;Cytosol;Cell membrane Nephrotic syndrome 3 The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. PLCE1 is a bifunctional enzyme which also regulates small GTPases of the Ras superfamily through its Ras guanine-exchange factor (RasGEF) activity. As an effector of heterotrimeric and small G-protein, it may play a role in cell survival, cell growth, actin organization and T-cell activation. NA NA Inositol phosphate metabolism;Metabolic pathways;Calcium signaling pathway;Phosphatidylinositol signaling system;Synthesis of IP3 and IP4 in the cytosol PE1 10 +NX_Q9P215 Pogo transposable element with KRAB domain 609 69444 5.06 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA NA NA NA NA PE1 1 +NX_Q9P217 Zinc finger SWIM domain-containing protein 5 1185 130634 6.78 0 Nucleus speckle NA NA NA NA NA PE1 1 +NX_Q9P218 Collagen alpha-1(XX) chain 1284 135830 8.27 0 Extracellular space NA Probable collagen protein. NA NA Collagen biosynthesis and modifying enzymes;Collagen chain trimerization PE1 20 +NX_Q9P219 Protein Daple 2028 228230 5.87 0 Nucleoplasm;Cytoplasm;Nucleolus Spinocerebellar ataxia 40;Hydrocephalus, congenital, 1 Negative regulator of the canonical Wnt signaling pathway, acting downstream of DVL to inhibit CTNNB1/Beta-catenin stabilization (By similarity). May also activate the JNK signaling pathway (PubMed:25062847). NA Belongs to the CCDC88 family. Negative regulation of TCF-dependent signaling by DVL-interacting proteins PE1 14 +NX_Q9P225 Dynein heavy chain 2, axonemal 4427 507698 5.98 0 Cilium axoneme;Cytoskeleton NA Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity). NA Belongs to the dynein heavy chain family. Huntington's disease PE1 17 +NX_Q9P227 Rho GTPase-activating protein 23 1491 162192 9.31 0 Nucleoplasm;Cytosol;Cell membrane NA GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. NA NA Rho GTPase cycle PE1 17 +NX_Q9P232 Contactin-3 1028 112883 5.94 0 Cell membrane NA Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity (By similarity). NA Belongs to the immunoglobulin superfamily. Contactin family. Post-translational modification: synthesis of GPI-anchored proteins PE1 3 +NX_Q9P241 Probable phospholipid-transporting ATPase VD 1426 160274 6.78 10 Nucleoplasm;Endoplasmic reticulum membrane;Cell membrane NA Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. Ion transport by P-type ATPases PE1 4 +NX_Q9P242 Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2 653 70548 8.71 0 Nucleoplasm;Cytoskeleton NA Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis. Phosphorylated on tyrosine residues by FYN upon stimulation with CNTN5. Belongs to the NYAP family. NA PE1 2 +NX_Q9P243 Zinc finger protein ZFAT 1243 139034 6.9 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. Overexpression causes down-regulation of a number of genes involved in the immune response. Some genes are also up-regulated (By similarity). NA NA NA PE1 8 +NX_Q9P244 Leucine-rich repeat and fibronectin type III domain-containing protein 1 771 82318 6.62 1 Membrane;Postsynaptic density;Synapse NA Promotes neurite outgrowth in hippocampal neurons. Involved in the regulation and maintenance of excitatory synapses. Induces the clustering of excitatory postsynaptic proteins, including DLG4, DLGAP1, GRIA1 and GRIN1 (By similarity). Glycosylated. Belongs to the LRFN family. Synaptic adhesion-like molecules PE1 19 +NX_Q9P246 Stromal interaction molecule 2 746 83971 6.3 1 Endoplasmic reticulum membrane NA Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Functions as a highly sensitive Ca(2+) sensor in the endoplasmic reticulum which activates both store-operated and store-independent Ca(2+)-influx. Regulates basal cytosolic and endoplasmic reticulum Ca(2+) concentrations. Upon mild variations of the endoplasmic reticulum Ca(2+) concentration, translocates from the endoplasmic reticulum to the plasma membrane where it probably activates the Ca(2+) release-activated Ca(2+) (CRAC) channels ORAI1, ORAI2 and ORAI3. May inhibit STIM1-mediated Ca(2+) influx. Glycosylated.;Phosphorylated predominantly on Ser residues. NA NA PE1 4 +NX_Q9P253 Vacuolar protein sorting-associated protein 18 homolog 973 110186 5.72 0 Clathrin-coated vesicle;Early endosome;Lysosome membrane;Autophagosome;Late endosome membrane NA Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:11382755, PubMed:23351085, PubMed:24554770, PubMed:25783203). Required for fusion of endosomes and autophagosomes with lysosomes (PubMed:25783203). Involved in dendrite development of Pukinje cells (By similarity). NA Belongs to the VPS18 family. NA PE1 15 +NX_Q9P255 Zinc finger protein 492 531 61158 9.4 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 19 +NX_Q9P258 Protein RCC2 522 56085 9.02 0 Cell membrane;Nucleolus;Chromosome;Midbody;Centromere;Spindle;Nucleus;Cytoskeleton NA Multifunctional protein that may effect its functions by regulating the activity of small GTPases, such as RAC1 and RALA (PubMed:12919680, PubMed:25074804, PubMed:26158537, PubMed:28869598). Required for normal progress through the cell cycle, both during interphase and during mitosis (PubMed:23388455, PubMed:12919680, PubMed:26158537). Required for the presence of normal levels of MAD2L1, AURKB and BIRC5 on inner centromeres during mitosis, and for normal attachment of kinetochores to mitotic spindles (PubMed:12919680, PubMed:26158537). Required for normal organization of the microtubule cytoskeleton in interphase cells (PubMed:23388455). Functions as guanine nucleotide exchange factor (GEF) for RALA (PubMed:26158537). Interferes with the activation of RAC1 by guanine nucleotide exchange factors (PubMed:25074804). Prevents accumulation of active, GTP-bound RAC1, and suppresses RAC1-mediated reorganization of the actin cytoskeleton and formation of membrane protrusions (PubMed:25074804, PubMed:28869598). Required for normal cellular responses to contacts with the extracellular matrix of adjacent cells, and for directional cell migration in response to a fibronectin gradient (in vitro) (PubMed:25074804, PubMed:28869598). NA NA Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 1 +NX_Q9P260 RAB11-binding protein RELCH 1216 134630 5.28 0 trans-Golgi network;Recycling endosome;Centriolar satellite;Nucleoplasm;Cytosol NA Regulates intracellular cholesterol distribution from recycling endosomes to the trans-Golgi network through interactions with RAB11 and OSBP (PubMed:29514919). Functions in membrane tethering and promotes OSBP-mediated cholesterol transfer between RAB11-bound recycling endosomes and OSBP-bound Golgi-like membranes (PubMed:29514919). NA NA NA PE1 18 +NX_Q9P265 Disco-interacting protein 2 homolog B 1576 171492 8.43 0 Endoplasmic reticulum NA NA NA Belongs to the DIP2 family. NA PE1 12 +NX_Q9P266 Junctional protein associated with coronary artery disease 1359 148351 6.65 0 Cytoplasmic vesicle;Cell junction;Adherens junction NA NA NA NA NA PE1 10 +NX_Q9P267 Methyl-CpG-binding domain protein 5 1494 159895 9.17 0 Nucleoplasm;Nucleus;Midbody;Chromosome Mental retardation, autosomal dominant 1 Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro). NA NA UCH proteinases PE1 2 +NX_Q9P270 SLAIN motif-containing protein 2 581 62543 9.48 0 Cytosol;Centrosome;Cytoskeleton NA Binds to the plus end of microtubules and regulates microtubule dynamics and microtubule organization. Promotes cytoplasmic microtubule nucleation and elongation. Required for normal structure of the microtubule cytoskeleton during interphase. Is highly phosphorylated during mitosis, but not during interphase. The highly phosphorylated form does not localize at microtubule plus ends and does not interact with MAPRE1 or CKAP5. Belongs to the SLAIN motif-containing family. NA PE1 4 +NX_Q9P272 Probable tRNA methyltransferase 9B 454 51299 6.2 0 Nucleoplasm;Cytosol NA May modifie wobble uridines in specific arginine and glutamic acid tRNAs. Acts as a tumor suppressor by promoting the expression of LIN9. NA Belongs to the methyltransferase superfamily. tRNA modification in the nucleus and cytosol PE1 8 +NX_Q9P273 Teneurin-3 2699 300950 5.99 1 Nucleoplasm;Axon;Cell membrane Microphthalmia, isolated, with coloboma, 9 Involved in neural development by regulating the establishment of proper connectivity within the nervous system. Acts in both pre- and postsynaptic neurons in the hippocampus to control the assembly of a precise topographic projection: required in both CA1 and subicular neurons for the precise targeting of proximal CA1 axons to distal subiculum, probably by promoting homophilic cell adhesion. Required for proper dendrite morphogenesis and axon targeting in the vertebrate visual system, thereby playing a key role in the development of the visual pathway. Regulates the formation in ipsilateral retinal mapping to both the dorsal lateral geniculate nucleus (dLGN) and the superior colliculus (SC). May also be involved in the differentiation of the fibroblast-like cells in the superficial layer of mandibular condylar cartilage into chondrocytes. NA Belongs to the tenascin family. Teneurin subfamily. NA PE1 4 +NX_Q9P275 Ubiquitin carboxyl-terminal hydrolase 36 1123 122908 9.73 0 Cytoplasm;Nucleus speckle;Nucleolus NA Deubiquitinase essential for the regulation of nucleolar structure and function. Required for cell and organism viability. Plays an important role in ribosomal RNA processing and protein synthesis, which is mediated, at least in part, through deubiquitination of DHX33, NPM1 and FBL, regulating their protein stability (PubMed:29273634, PubMed:19208757, PubMed:22902402). Function as a transcriptional repressor by deubiquiting histone H2B at the promoters of genes critical for cellular differentiation, such as CDKN1A, thereby preventing histone H3 'Lys-4' trimethylation (H3K4) (PubMed:29274341). Specifically deubiquitinates MYC in the nucleolus, leading to prevent MYC degradation by the proteasome: acts by specifically interacting with isoform 3 of FBXW7 (FBW7gamma) in the nucleolus and counteracting ubiquitination of MYC by the SCF(FBW7) complex. In contrast, it does not interact with isoform 1 of FBXW7 (FBW7alpha) in the nucleoplasm (PubMed:25775507). Interacts to and regulates the actions of E3 ubiquitin-protein ligase NEDD4L over substrates such as NTRK1, KCNQ2 and KCNQ3, affecting their expression an functions (PubMed:27445338). Deubiquitinates SOD2, regulates SOD2 protein stability (PubMed:21268071). Deubiquitinase activity is required to control selective autophagy activation by ubiquitinated proteins (PubMed:22622177). Polyubiquitinated by NEDD4L, no effect on USP36 protein levels. Both proteins interact with and regulate each other's ubiquitination levels. Belongs to the peptidase C19 family. NA PE1 17 +NX_Q9P278 Folliculin-interacting protein 2 1114 122115 6.2 0 Cytoplasm;Cytosol;Centriolar satellite NA Acts as a co-chaperone of HSP90AA1. Inhibits the ATPase activity of HSP90AA1 leading to reduction in its chaperone activity. Facilitates the binding of client protein FLCN to HSP90AA1 (PubMed:27353360). May play a role in the signal transduction pathway of apoptosis induced by O6-methylguanine-mispaired lesions (By similarity). May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways (PubMed:18403135). May regulate phosphorylation of RPS6KB1 (PubMed:18663353). Phosphorylated by AMPK. Belongs to the FNIP family. NA PE1 4 +NX_Q9P281 BAH and coiled-coil domain-containing protein 1 2639 280016 9.01 0 Nucleolus NA NA NA NA NA PE1 17 +NX_Q9P283 Semaphorin-5B 1151 125913 7.99 1 Membrane;Cytosol NA May act as positive axonal guidance cues. NA Belongs to the semaphorin family. Axon guidance;O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 3 +NX_Q9P286 Serine/threonine-protein kinase PAK 5 719 80745 8.19 0 Cytoplasm;Nucleoplasm;Mitochondrion;Nucleus NA Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, proliferation or cell survival. Activation by various effectors including growth factor receptors or active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates the proto-oncogene RAF1 and stimulates its kinase activity. Promotes cell survival by phosphorylating the BCL2 antagonist of cell death BAD. Phosphorylates CTNND1, probably to regulate cytoskeletal organization and cell morphology. Keeps microtubules stable through MARK2 inhibition and destabilizes the F-actin network leading to the disappearance of stress fibers and focal adhesions. Autophosphorylated when activated by CDC42/p21.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. ErbB signaling pathway;Axon guidance;Focal adhesion;T cell receptor signaling pathway;Regulation of actin cytoskeleton;Renal cell carcinoma;Activation of RAC1 PE1 20 +NX_Q9P287 BRCA2 and CDKN1A-interacting protein 314 35979 4.51 0 Centriole;Nucleoplasm;Spindle pole;Centrosome;Cytosol;Nucleus NA During interphase, required for microtubule organizing and anchoring activities. During mitosis, required for the organization and stabilization of the spindle pole (PubMed:28394342). NA Belongs to the BCP1 family. NA PE1 10 +NX_Q9P289 Serine/threonine-protein kinase 26 416 46529 5.16 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Centrosome;Cytosol NA Mediator of cell growth (PubMed:11641781, PubMed:17360971). Modulates apoptosis (PubMed:11641781, PubMed:17360971). In association with STK24 negatively regulates Golgi reorientation in polarized cell migration upon RHO activation (PubMed:27807006). STK26 is phosphorylated by TNIK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. Apoptotic cleavage of cellular proteins PE1 X +NX_Q9P291 Armadillo repeat-containing X-linked protein 1 453 49180 9.32 1 Mitochondrion outer membrane;Nucleoplasm;Cytosol;Mitochondrion NA Regulates mitochondrial transport during axon regeneration. Increases the proportion of motile mitochondria by recruiting stationary mitochondria into the motile pool. Enhances mitochondria movement and neurite growth in both adult axons and embryonic neurons. Promotes neuronal survival and axon regeneration after nerve injury. May link mitochondria to the Trak1-kinesin motor complex via its interaction with MIRO1. NA Belongs to the eutherian X-chromosome-specific Armcx family. NA PE1 X +NX_Q9P296 C5a anaphylatoxin chemotactic receptor 2 337 36080 8.17 7 Cell membrane NA Receptor for the chemotactic and inflammatory C3a, C4a and C5a anaphylatoxin peptides and also for their dearginated forms ASP/C3adesArg, C4adesArg and C5adesArg respectively. Couples weakly to G(i)-mediated signaling pathways. NA Belongs to the G-protein coupled receptor 1 family. Peptide ligand-binding receptors;Regulation of Complement cascade PE1 19 +NX_Q9P298 HIG1 domain family member 1B 99 11058 9.55 2 Membrane NA NA NA NA NA PE1 17 +NX_Q9P299 Coatomer subunit zeta-2 210 23548 5.08 0 Cytoplasm;COPI-coated vesicle membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus membrane NA The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic protein transport due to its association-dissociation properties with the coatomer complex (By similarity). NA Belongs to the adaptor complexes small subunit family. COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 17 +NX_Q9P2A4 ABI gene family member 3 366 39035 4.99 0 Cytoplasm NA May inhibit tumor metastasis (By similarity). In vitro, reduces cell motility. NA Belongs to the ABI family. NA PE1 17 +NX_Q9P2B2 Prostaglandin F2 receptor negative regulator 879 98556 6.16 1 trans-Golgi network membrane;Endoplasmic reticulum membrane NA Inhibits the binding of prostaglandin F2-alpha (PGF2-alpha) to its specific FP receptor, by decreasing the receptor number rather than the affinity constant. Functional coupling with the prostaglandin F2-alpha receptor seems to occur (By similarity). In myoblasts, associates with tetraspanins CD9 and CD81 to prevent myotube fusion during muscle regeneration (By similarity). NA NA NA PE1 1 +NX_Q9P2B4 CTTNBP2 N-terminal-like protein 639 70158 8.22 0 Cytosol;Stress fiber;Nucleolus;Cytoskeleton NA NA NA NA NA PE1 1 +NX_Q9P2B7 Cilia- and flagella-associated protein 97 532 59475 9.12 0 Nucleolus NA NA NA Belongs to the CFAP97 family. NA PE1 4 +NX_Q9P2C4 Transmembrane protein 181 612 69325 9.1 9 Membrane;Golgi apparatus;Cytoplasmic vesicle NA Mediates action of cytolethal distending toxins (CDT), which are secreted by many pathogenic bacteria. Expression level of TMEM181 is rate-limiting for intoxication. NA NA NA PE1 6 +NX_Q9P2D0 Inhibitor of Bruton tyrosine kinase 1353 150528 7.79 0 Membrane;Nucleoplasm;Cytoplasm;Nucleus NA Acts as an inhibitor of BTK tyrosine kinase activity, thereby playing a role in B-cell development. Down-regulates BTK kinase activity, leading to interference with BTK-mediated calcium mobilization and NF-kappa-B-driven transcription. NA NA NA PE1 6 +NX_Q9P2D1 Chromodomain-helicase-DNA-binding protein 7 2997 335927 5.95 0 Nucleoplasm;Nucleus;Nucleolus CHARGE syndrome;Hypogonadotropic hypogonadism 5 with or without anosmia;Idiopathic scoliosis 3 Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production. NA Belongs to the SNF2/RAD54 helicase family. NA PE1 8 +NX_Q9P2D3 HEAT repeat-containing protein 5B 2071 224302 6.77 0 Nucleoplasm;Cytosol;Nucleolus NA NA NA Belongs to the HEATR5 family. NA PE1 2 +NX_Q9P2D6 Protein FAM135A 1515 169840 5.22 0 Nucleoplasm;Cytoplasm;Cytosol NA NA NA Belongs to the FAM135 family. NA PE1 6 +NX_Q9P2D7 Dynein heavy chain 1, axonemal 4265 487478 5.59 0 Cilium axoneme;Flagellum Ciliary dyskinesia, primary, 37;Spermatogenic failure 18 Force generating protein of cilia required for sperm flagellum motility. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required in spermatozoa for the formation of the inner dynein arms and biogenesis of the axoneme (PubMed:24360805). NA Belongs to the dynein heavy chain family. Huntington's disease PE1 3 +NX_Q9P2D8 Protein unc-79 homolog 2635 295326 5.9 2 Membrane;Nucleoplasm;Cell membrane NA Component of the NALCN sodium channel complex, a cation channel activated either by neuropeptides substance P or neurotensin that controls neuronal excitability. NA Belongs to the unc-79 family. Stimuli-sensing channels PE1 14 +NX_Q9P2E2 Kinesin-like protein KIF17 1029 115068 5.38 0 Nucleoplasm;Cilium;Cytoskeleton;Cell membrane NA Transports vesicles containing N-methyl-D-aspartate (NMDA) receptor 2B along microtubules. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Intraflagellar transport;Assembly and cell surface presentation of NMDA receptors PE1 1 +NX_Q9P2E3 NFX1-type zinc finger-containing protein 1 1918 220227 7.06 0 Mitochondrion NA NA NA NA NA PE1 20 +NX_Q9P2E5 Chondroitin sulfate glucuronyltransferase 772 85948 7.94 1 Golgi stack membrane;Nucleoplasm;Cytosol NA Transfers glucuronic acid (GlcUA) from UDP-GlcUA to N-acetylgalactosamine residues on the non-reducing end of the elongating chondroitin polymer. Has no N-acetylgalactosaminyltransferase activity. NA Belongs to the chondroitin N-acetylgalactosaminyltransferase family. Glycosaminoglycan biosynthesis - chondroitin sulfate;Metabolic pathways;Chondroitin sulfate biosynthesis PE1 7 +NX_Q9P2E7 Protocadherin-10 1040 112936 4.74 1 Golgi apparatus;Nucleoplasm;Cytoplasmic vesicle;Cell membrane NA Potential calcium-dependent cell-adhesion protein. NA NA NA PE1 4 +NX_Q9P2E8 E3 ubiquitin-protein ligase MARCH4 410 45528 8.18 2 Golgi apparatus membrane NA E3 ubiquitin-protein ligase that may mediate ubiquitination of MHC-I and CD4, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. NA NA Protein modification; protein ubiquitination. PE2 2 +NX_Q9P2E9 Ribosome-binding protein 1 1410 152456 8.69 1 Endoplasmic reticulum;Endoplasmic reticulum membrane NA Acts as a ribosome receptor and mediates interaction between the ribosome and the endoplasmic reticulum membrane. NA NA Protein processing in endoplasmic reticulum PE1 20 +NX_Q9P2F5 Storkhead-box protein 2 926 102671 8.67 0 Nucleoplasm;Cytosol;Cytoskeleton NA NA NA NA NA PE1 4 +NX_Q9P2F6 Rho GTPase-activating protein 20 1191 132608 8.26 0 Mitochondrion NA GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. NA NA Rho GTPase cycle PE1 11 +NX_Q9P2F8 Signal-induced proliferation-associated 1-like protein 2 1722 190438 6.31 0 Golgi apparatus;Nucleus;Nucleus membrane NA NA NA NA NA PE1 1 +NX_Q9P2F9 Zinc finger protein 319 582 65547 8.75 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 16 +NX_Q9P2G1 Ankyrin repeat and IBR domain-containing protein 1 1089 122002 4.98 0 Cytosol;Cell membrane NA Might act as an E3 ubiquitin-protein ligase, or as part of E3 complex, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes and then transfers it to substrates. NA Belongs to the RBR family. NA PE1 7 +NX_Q9P2G3 Kelch-like protein 14 628 70714 6.21 0 Cytosol;Endoplasmic reticulum membrane;Cytoskeleton NA NA NA NA NA PE1 18 +NX_Q9P2G4 Microtubule-associated protein 10 905 100345 6.77 0 Spindle pole;Centrosome;Midbody;Cytoskeleton NA Microtubule-associated protein (MAP) that plays a role in the regulation of cell division; promotes microtubule stability and participates in the organization of the spindle midzone and normal progress of cytokinesis. NA NA NA PE1 1 +NX_Q9P2G9 Kelch-like protein 8 620 68802 6.12 0 Nucleoplasm NA Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for The BCR(KLHL8) ubiquitin ligase complex mediates ubiquitination and degradation of RAPSN. NA NA Protein modification; protein ubiquitination. PE1 4 +NX_Q9P2H0 Centrosomal protein of 126 kDa 1117 125870 8.95 0 Cilium basal body;Nucleoplasm;Centrosome;Cytosol;Midbody NA Participates in cytokinesis (PubMed:19799413). Necessary for microtubules and mitotic spindle organization (PubMed:24867236). Involved in primary cilium formation (PubMed:24867236). NA NA NA PE1 11 +NX_Q9P2H3 Intraflagellar transport protein 80 homolog 777 88035 7.59 0 Cytoplasm;Cilium axoneme;Cilium basal body Short-rib thoracic dysplasia 2 with or without polydactyly Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia. NA NA Intraflagellar transport PE1 3 +NX_Q9P2H5 Ubiquitin carboxyl-terminal hydrolase 35 1018 113405 5.42 0 Nucleoplasm;Nucleolus NA NA NA Belongs to the peptidase C19 family. NA PE1 11 +NX_Q9P2I0 Cleavage and polyadenylation specificity factor subunit 2 782 88487 4.98 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. Involved in the histone 3' end pre-mRNA processing. NA Belongs to the metallo-beta-lactamase superfamily. RNA-metabolizing metallo-beta-lactamase-like family. CPSF2/YSH1 subfamily. mRNA surveillance pathway;Transport of Mature mRNA Derived from an Intronless Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Processing of Intronless Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 14 +NX_Q9P2J2 Protein turtle homolog A 1179 126580 6.74 1 Synapse;Cell membrane NA Functions in dendrite outgrowth and synapse maturation. NA Belongs to the immunoglobulin superfamily. Turtle family. NA PE1 1 +NX_Q9P2J3 Kelch-like protein 9 617 69429 5.92 0 NA NA Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis. NA NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 9 +NX_Q9P2J5 Leucine--tRNA ligase, cytoplasmic 1176 134466 6.95 0 Cytoplasm;Cytosol;Nucleus Infantile liver failure syndrome 1 Catalyzes the specific attachment of an amino acid to its cognate tRNA in a two step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. Exhibits a post-transfer editing activity to hydrolyze mischarged tRNAs. NA Belongs to the class-I aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Cytosolic tRNA aminoacylation;Selenoamino acid metabolism PE1 5 +NX_Q9P2J8 Zinc finger protein 624 865 99929 9.13 0 Cytoplasmic vesicle;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 17 +NX_Q9P2J9 [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial 529 59978 5.69 0 Mitochondrion matrix;Mitochondrion NA Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex. NA Belongs to the PP2C family. Regulation of pyruvate dehydrogenase (PDH) complex PE1 16 +NX_Q9P2K1 Coiled-coil and C2 domain-containing protein 2A 1620 186185 6.3 0 Cytoplasm;Cilium basal body Meckel syndrome 6;Joubert syndrome 9;COACH syndrome Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). NA NA Anchoring of the basal body to the plasma membrane PE1 4 +NX_Q9P2K2 Thioredoxin domain-containing protein 16 825 93572 5.1 0 Endoplasmic reticulum lumen;Mitochondrion;Secreted NA NA Glycosylated. NA NA PE1 14 +NX_Q9P2K3 REST corepressor 3 495 55581 8.26 0 Nucleoplasm;Cytosol;Nucleus NA May act as a component of a corepressor complex that represses transcription. NA Belongs to the CoREST family. NA PE1 1 +NX_Q9P2K5 Myelin expression factor 2 600 64122 8.86 0 Nucleoplasm;Nucleus NA Transcriptional repressor of the myelin basic protein gene (MBP). Binds to the proximal MB1 element 5'-TTGTCC-3' of the MBP promoter. Its binding to MB1 and function are inhibited by PURA (By similarity). NA NA NA PE1 15 +NX_Q9P2K6 Kelch-like protein 42 505 56868 5.52 0 Cytoplasm;Spindle NA Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL42) E3 ubiquitin ligase complex mediates the ubiquitination and subsequent degradation of KATNA1. Involved in microtubule dynamics throughout mitosis. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 12 +NX_Q9P2K8 eIF-2-alpha kinase GCN2 1649 186911 5.88 0 Cytoplasm;Cytosol Pulmonary venoocclusive disease 2, autosomal recessive (Microbial infection) Plays a role in modulating the adaptive immune response to yellow fever virus infection; promotes dendritic cells to initiate autophagy and antigene presentation to both CD4(+) and CD8(+) T-cells under amino acid starvation (PubMed:24310610).;Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on 'Ser-52' in response to low amino acid availability (PubMed:25329545). Plays a role as an activator of the integrated stress response (ISR) required for adapatation to amino acid starvation. Converts phosphorylated eIF-2-alpha/EIF2S1 either to a competitive inhibitor of the translation initiation factor eIF-2B, leading to a global protein synthesis repression, and thus to a reduced overall utilization of amino acids, or to a translational initiation activation of specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion. Binds uncharged tRNAs (By similarity). Involved in cell cycle arrest by promoting cyclin D1 mRNA translation repression after the unfolded protein response pathway (UPR) activation or cell cycle inhibitor CDKN1A/p21 mRNA translation activation in response to amino acid deprivation (PubMed:26102367). Plays a role in the consolidation of synaptic plasticity, learning as well as formation of long-term memory. Plays a role in neurite outgrowth inhibition. Plays a proapoptotic role in response to glucose deprivation. Promotes global cellular protein synthesis repression in response to UV irradiation independently of the stress-activated protein kinase/c-Jun N-terminal kinase (SAPK/JNK) and p38 MAPK signaling pathways (By similarity). Plays a role in the antiviral response against alphavirus infection; impairs early viral mRNA translation of the incoming genomic virus RNA, thus preventing alphavirus replication (By similarity). Autophosphorylated; autophosphorylation on Thr-899 is increased upon amino acid starvation and in UV irradiation cells and inhibited in presence of IMPACT. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. GCN2 subfamily. Protein processing in endoplasmic reticulum;Hepatitis C;Measles;Influenza A;Herpes simplex infection PE1 15 +NX_Q9P2K9 Protein dispatched homolog 3 1392 153048 7.5 12 Endoplasmic reticulum membrane;Nucleus membrane;Cytoplasmic vesicle membrane;Nucleoplasm;Cytosol NA Plays a role in neuronal proliferation and differentiation (PubMed:25281927). Plays a role in the accumulation of cellular cholesterol (By similarity). Involved in intracellular lipid droplet formation (PubMed:25281927). May contribute to cholesterol homeostasis in neuronal cells (By similarity). NA Belongs to the patched family. NA PE1 1 +NX_Q9P2L0 WD repeat-containing protein 35 1181 133547 5.98 0 Centrosome;Cilium axoneme;Cilium basal body Short-rib thoracic dysplasia 7 with or without polydactyly;Cranioectodermal dysplasia 2;Short-rib thoracic dysplasia 7/20 with polydactyly, digenic As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis and ciliary protein trafficking (PubMed:21473986, PubMed:28400947, PubMed:29220510). May promote CASP3 activation and TNF-stimulated apoptosis. NA NA Intraflagellar transport;Hedgehog 'off' state PE1 2 +NX_Q9P2M1 LRP2-binding protein 347 39780 7.99 0 Cytoplasm NA May act as an adapter that regulates LRP2 function. NA NA NA PE1 4 +NX_Q9P2M4 TBC1 domain family member 14 693 78137 6.57 0 trans-Golgi network;Golgi apparatus;Nucleoplasm;cis-Golgi network;Cytoplasmic vesicle NA Plays a role in the regulation of starvation-induced autophagosome formation (PubMed:22613832). Together with the TRAPPIII complex, regulates a constitutive trafficking step from peripheral recycling endosomes to the early Golgi, maintaining the cycling pool of ATG9 required for initiation of autophagy. NA NA TBC/RABGAPs PE1 4 +NX_Q9P2M7 Cingulin 1197 136386 5.46 0 Tight junction;Cell junction;Cell membrane NA Probably plays a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. NA Belongs to the cingulin family. Tight junction;TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) PE1 1 +NX_Q9P2N2 Rho GTPase-activating protein 28 729 82060 7.62 0 Cell junction NA GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. NA NA Rho GTPase cycle PE1 18 +NX_Q9P2N4 A disintegrin and metalloproteinase with thrombospondin motifs 9 1935 216491 8.13 0 Endoplasmic reticulum;Extracellular matrix;Cytoplasmic vesicle NA Cleaves the large aggregating proteoglycans, aggrecan (at the '1838-Glu-|-Ala-1839' site) and versican (at the '1428-Glu-|-Ala-1429' site). Has a protease-independent function in promoting the transport from the endoplasmic reticulum to the Golgi apparatus of a variety of secretory cargos. The precursor is cleaved by a furin endopeptidase.;N-glycosylated (PubMed:12514189). Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity). NA Degradation of the extracellular matrix;O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 3 +NX_Q9P2N5 RNA-binding protein 27 1060 118718 9.24 0 Cytoplasm;Nucleus speckle NA NA NA NA NA PE1 5 +NX_Q9P2N6 KAT8 regulatory NSL complex subunit 3 904 95992 9.46 0 Nucleoplasm;Nucleus NA As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription. NA NA HATs acetylate histones PE1 2 +NX_Q9P2N7 Kelch-like protein 13 655 73868 6.17 0 NA NA Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis. NA NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 X +NX_Q9P2P1 Protein NYNRIN 1898 208366 8.27 2 Membrane;Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus NA NA NA NA NA PE1 14 +NX_Q9P2P5 E3 ubiquitin-protein ligase HECW2 1572 175769 5.26 0 Cytoplasm;Spindle Neurodevelopmental disorder with hypotonia, seizures, and absent language E3 ubiquitin-protein ligase that mediates ubiquitination of TP73. Acts to stabilize TP73 and enhance activation of transcription by TP73 (PubMed:12890487). Involved in the regulation of mitotic metaphase/anaphase transition (PubMed:24163370). Ubiquitinated and degraded during mitotic exit by APC/C-Cdh1. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 2 +NX_Q9P2P6 StAR-related lipid transfer protein 9 4700 516343 5.91 0 Nucleus;Centriole NA Microtubule-dependent motor protein required for spindle pole assembly during mitosis. Required to stabilize the pericentriolar material (PCM). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. NA PE1 15 +NX_Q9P2Q2 FERM domain-containing protein 4A 1039 115458 8.98 0 Golgi apparatus;Adherens junction;Nucleoplasm;Tight junction;Cytoskeleton Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (By similarity). Plays a redundant role with FRMD4B in epithelial polarization (By similarity). May regulate MAPT secretion by activating ARF6-signaling (PubMed:27044754). NA NA NA PE1 10 +NX_Q9P2R3 Rabankyrin-5 1169 128399 5.7 0 Cytoplasm;Early endosome;Endosome;Endosome membrane NA Proposed effector of Rab5. Binds to phosphatidylinositol 3-phosphate (PI(3)P). Involved in homotypic early endosome fusion and to a lesser extent in heterotypic fusion of chlathrin-coated vesicles with early endosomes. Involved in macropinocytosis; the function is dependent on Rab5-GTP. Required for correct endosomal localization. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Regulates the subcellular localization of the retromer complex in a EHD1-dependent manner. Involved in endosome-to-Golgi transport and biosynthetic transport to late endosomes and lysosomes indicative for a regulation of retromer complex-mediated retrograde transport. NA NA NA PE1 17 +NX_Q9P2R6 Arginine-glutamic acid dipeptide repeats protein 1566 172424 7.44 0 Nucleus Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death. NA NA NA PE1 1 +NX_Q9P2R7 Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial 463 50317 7.05 0 Mitochondrion Mitochondrial DNA depletion syndrome 5 ATP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of ATP and thus represents the only step of substrate-level phosphorylation in the TCA (PubMed:15877282). The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit (By similarity). NA Belongs to the succinate/malate CoA ligase beta subunit family. ATP-specific subunit beta subfamily. Carbohydrate metabolism; tricarboxylic acid cycle; succinate from succinyl-CoA (ligase route): step 1/1.;Citrate cycle (TCA cycle);Propanoate metabolism;Metabolic pathways;Citric acid cycle (TCA cycle) PE1 13 +NX_Q9P2S2 Neurexin-2 1712 184982 5.61 1 Membrane NA Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling. NA Belongs to the neurexin family. Cell adhesion molecules (CAMs);Neurexins and neuroligins PE1 11 +NX_Q9P2S5 WD repeat-containing protein WRAP73 460 51588 6.37 0 Cytoplasm;Centrosome;Centriolar satellite;Centriole NA The SSX2IP:WRAP73 complex is proposed to act as regulator of spindle anchoring at the mitotic centrosome. Required for the centrosomal localization of SSX2IP and normal mitotic bipolar spindle morphology (PubMed:26545777). Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP, CEP290 and PIBF1/CEP90. Required for ciliogenesis and involved in the removal of the CEP97:CCP110 complex from the mother centriole. Involved in ciliary vesicle formation at the mother centriole and required for the docking of vesicles to the basal body during ciliogenesis; may promote docking of RAB8A- and ARL13B-containing vesicles (PubMed:26675238). NA NA NA PE1 1 +NX_Q9P2S6 Ankyrin repeat and MYND domain-containing protein 1 941 105516 6.28 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA NA NA NA NA PE1 2 +NX_Q9P2T0 Testicular haploid expressed gene protein 379 43444 9.17 0 Nucleus NA May be involved (but not essential) in spermatogenesis. NA NA NA PE1 19 +NX_Q9P2T1 GMP reductase 2 348 37874 6.8 0 Nucleoplasm;Nucleolus NA Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides (PubMed:12009299, PubMed:12669231, PubMed:16359702, PubMed:22037469). Plays a role in modulating cellular differentiation (PubMed:12669231). NA Belongs to the IMPDH/GMPR family. GuaC type 1 subfamily. Purine metabolism;Purine salvage PE1 14 +NX_Q9P2U7 Vesicular glutamate transporter 1 560 61613 7.2 12 Membrane;Synaptic vesicle membrane;Synaptosome NA Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate. NA Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily. Synaptic vesicle cycle;Glutamatergic synapse;Organic anion transporters;Glutamate Neurotransmitter Release Cycle PE1 19 +NX_Q9P2U8 Vesicular glutamate transporter 2 582 64392 6.62 12 Membrane;Synaptic vesicle membrane;Synaptosome NA Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate. NA Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily. Synaptic vesicle cycle;Glutamatergic synapse;Organic anion transporters PE1 11 +NX_Q9P2V4 Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1 623 68041 8.9 1 Endoplasmic reticulum membrane NA Possible role in phototransduction. NA NA NA PE1 10 +NX_Q9P2W1 Homologous-pairing protein 2 homolog 217 24906 7.62 0 Nucleoplasm;Nucleus Ovarian dysgenesis 3 Plays an important role in meiotic recombination. Stimulates DMC1-mediated strand exchange required for pairing homologous chromosomes during meiosis. The complex PSMC3IP/MND1 binds DNA, stimulates the recombinase activity of DMC1 as well as DMC1 D-loop formation from double-strand DNA. This complex stabilizes presynaptic RAD51 and DMC1 filaments formed on single strand DNA to capture double-strand DNA. This complex stimulates both synaptic and presynaptic critical steps in RAD51 and DMC1-promoted homologous pairing. May inhibit HIV-1 viral protein TAT activity and modulate the activity of proteasomes through association with PSMC3. Acts as a tissue specific coactivator of hormone-dependent transcription mediated by nuclear receptors. PTM: Phosphorylated by PKA, PKC and MAPK. Belongs to the HOP2 family. Meiotic recombination PE1 17 +NX_Q9P2W3 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13 67 7949 5.05 0 Cell membrane NA Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. NA Belongs to the G protein gamma family. Chemokine signaling pathway;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Taste transduction;G alpha (i) signalling events;G alpha (q) signalling events;G alpha (s) signalling events;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);G beta:gamma signalling through PI3Kgamma;G alpha (12/13) signalling events;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G-protein activation;ADP signalling through P2Y purinoceptor 12;Prostacyclin signalling through prostacyclin receptor;Adrenaline,noradrenaline inhibits insulin secretion;Ca2+ pathway;G beta:gamma signalling through PLC beta;ADP signalling through P2Y purinoceptor 1;G alpha (z) signalling events;Glucagon-type ligand receptors;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Presynaptic function of Kainate receptors;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling;G beta:gamma signalling through BTK;G beta:gamma signalling through CDC42 PE1 16 +NX_Q9P2W6 Uncharacterized protein C11orf21 132 14447 9.55 0 Nucleoplasm;Cytosol;Cytoplasm NA NA NA NA NA PE2 11 +NX_Q9P2W7 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 334 38256 9.64 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Secreted;Golgi apparatus membrane NA Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR), asialo-fetuin, and asialo-neural cell adhesion molecule. Requires sphingomyelin for activity: stearoyl-sphingomyelin was the most effective, followed by palmitoyl-sphingomyelin and lignoceroyl-sphingomyelin. Activity was demonstrated only for sphingomyelin with a saturated fatty acid and not for that with an unsaturated fatty acid, regardless of the length of the acyl group. The soluble form derives from the membrane form by proteolytic processing. Belongs to the glycosyltransferase 43 family. Protein modification; protein glycosylation.;Glycosaminoglycan biosynthesis - chondroitin sulfate;Glycosaminoglycan biosynthesis - heparan sulfate;Metabolic pathways;A tetrasaccharide linker sequence is required for GAG synthesis PE1 11 +NX_Q9P2W9 Syntaxin-18 335 38674 5.36 1 Endoplasmic reticulum membrane;Cell membrane;Golgi apparatus membrane NA Syntaxin that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER. NA Belongs to the syntaxin family. SNARE interactions in vesicular transport;Phagosome;COPI-dependent Golgi-to-ER retrograde traffic PE1 4 +NX_Q9P2X0 Dolichol-phosphate mannosyltransferase subunit 3 92 10094 5.66 2 Endoplasmic reticulum membrane Muscular dystrophy-dystroglycanopathy limb-girdle C15 Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the ER. NA Belongs to the DPM3 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Synthesis of dolichyl-phosphate mannose;Defective DPM2 causes DPM2-CDG (CDG-1u);Defective DPM1 causes DPM1-CDG (CDG-1e);Defective DPM3 causes DPM3-CDG (CDG-1o) PE1 1 +NX_Q9P2X3 Protein IMPACT 320 36476 4.86 0 Cytoplasm;Nucleoplasm NA Translational regulator that ensures constant high levels of translation upon a variety of stress conditions, such as amino acid starvation, UV-C irradiation, proteasome inhibitor treatment and glucose deprivation. Plays a role as a negative regulator of the EIF2AK4/GCN2 kinase activity; impairs GCN1-mediated EIF2AK4/GCN2 activation, and hence EIF2AK4/GCN2-mediated eIF-2-alpha phosphorylation and subsequent down-regulation of protein synthesis. May be required to regulate translation in specific neuronal cells under amino acid starvation conditions by preventing GCN2 activation and therefore ATF4 synthesis. Through its inhibitory action on EIF2AK4/GCN2, plays a role in differentiation of neuronal cells by stimulating neurite outgrowth. NA Belongs to the IMPACT family. NA PE1 18 +NX_Q9P2X7 Deleted in esophageal cancer 1 70 7542 7.93 0 NA NA Candidate tumor suppressor. NA NA NA PE2 9 +NX_Q9P2X8 Putative uncharacterized protein encoded by LINC00474 69 7854 7.77 0 NA NA NA NA NA NA PE5 9 +NX_Q9P2Y4 Zinc finger protein 219 722 76877 9.56 0 Nucleoplasm;Nucleus NA Transcriptional regulator (PubMed:14621294, PubMed:19549071). Recognizes and binds 2 copies of the core DNA sequence motif 5'-GGGGG-3' (PubMed:14621294). Binds to the HMGN1 promoter and may repress HMGN1 expression (PubMed:14621294). Regulates SNCA expression in primary cortical neurons (PubMed:19549071). Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with SOX9 (By similarity). Plays a role in chondrocyte differentiation (By similarity). NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 14 +NX_Q9P2Y5 UV radiation resistance-associated gene protein 699 78151 8.56 0 Early endosome;Endoplasmic reticulum;Centromere;Autophagosome;Late endosome;Lysosome;Midbody NA Involved in maintaining chromosomal stability. Promotes DNA double-strand break (DSB) repair by association with DNA-dependent protein kinase complex DNA-PK and activating it in non-homologous end joining (NHEJ) (PubMed:22542840). Required for centrosome stability and proper chromosome segregation (PubMed:22542840).;Versatile protein that is involved in regulation of different cellular pathways implicated in membrane trafficking. Involved in regulation of the COPI-dependent retrograde transport from Golgi and the endoplasmic reticulum by associating with the NRZ complex; the function is dependent on its binding to phosphatidylinositol 3-phosphate (PtdIns(3)P) (PubMed:16799551, PubMed:18552835, PubMed:20643123, PubMed:24056303, PubMed:28306502). During autophagy acts as regulatory subunit of the alternative PI3K complex II (PI3KC3-C2) that mediates formation of phosphatidylinositol 3-phosphate and is believed to be involved in maturation of autophagosomes and endocytosis. Activates lipid kinase activity of PIK3C3 (PubMed:16799551, PubMed:20643123, PubMed:24056303, PubMed:28306502). Involved in the regulation of degradative endocytic trafficking and cytokinesis, and in regulation of ATG9A transport from the Golgi to the autophagosome; the functions seems to implicate its association with PI3KC3-C2 (PubMed:16799551, PubMed:20643123, PubMed:24056303). Involved in maturation of autophagosomes and degradative endocytic trafficking independently of BECN1 but depending on its association with a class C Vps complex (possibly the HOPS complex); the association is also proposed to promote autophagosome recruitment and activation of Rab7 and endosome-endosome fusion events (PubMed:18552835, PubMed:28306502). Enhances class C Vps complex (possibly HOPS complex) association with a SNARE complex and promotes fusogenic SNARE complex formation during late endocytic membrane fusion (PubMed:24550300). In case of negative-strand RNA virus infection is required for efficient virus entry, promotes endocytic transport of virions and is implicated in a VAMP8-specific fusogenic SNARE complex assembly (PubMed:24550300). Phosphorylated at Ser-498 by MTOR under basal conditions; increases the interaction with RUBCN implicated in inhibitory effect of RUBCN on PI3KC3 and decreases interaction with RAB7,A and VPS16 and VPS39 (indicative for a class C Vps complex, possibly the HOPS complex) (PubMed:25533187). NA Macroautophagy PE1 11 +NX_Q9P2Z0 THAP domain-containing protein 10 257 28351 8.95 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 15 +NX_Q9QC07 Endogenous retrovirus group K member 18 Pol protein 812 91948 9.21 0 NA NA Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution. NA Belongs to the beta type-B retroviral polymerase family. HERV class-II K(HML-2) pol subfamily. NA PE3 1 +NX_Q9TQE0 HLA class II histocompatibility antigen, DRB1-9 beta chain 266 29826 7.67 1 Endoplasmic reticulum membrane;Endosome membrane;Cell membrane;Lysosome membrane;trans-Golgi network membrane;Late endosome membrane NA Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route; where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and efficient peptide loading. Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II. Belongs to the MHC class II family. MHC class II antigen presentation;Interferon gamma signaling;Downstream TCR signaling;Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse;Generation of second messenger molecules;PD-1 signaling PE1 6 +NX_Q9UBB4 Ataxin-10 475 53489 5.12 0 Cytoplasm;Cytosol;Perinuclear region;Cell membrane Spinocerebellar ataxia 10 Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis. NA Belongs to the ataxin-10 family. NA PE1 22 +NX_Q9UBB5 Methyl-CpG-binding domain protein 2 411 43255 10.06 0 Nucleoplasm;Nucleus NA Binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binds hemimethylated DNA as well. Recruits histone deacetylases and DNA methyltransferases. Acts as transcriptional repressor and plays a role in gene silencing. Functions as a scaffold protein, targeting GATAD2A and GATAD2B to chromatin to promote repression. May enhance the activation of some unmethylated cAMP-responsive promoters. NA NA NoRC negatively regulates rRNA expression;RNA Polymerase I Promoter Opening PE1 18 +NX_Q9UBB6 Neurochondrin 729 78864 5.34 0 Cytosol;Dendrite NA Probably involved in signal transduction, in the nervous system, via increasing cell surface localization of GRM5 and positively regulating its signaling (By similarity). Required for the spatial learning process. Acts as a negative regulator of Ca(2+)-calmodulin-dependent protein kinase 2 (CaMK2) phosphorylation. May play a role in modulating melanin-concentrating hormone-mediated functions via its interaction with MCHR1 that interferes with G protein-coupled signal transduction. May be involved in bone metabolism. May also be involved in neurite outgrowth. NA Belongs to the neurochondrin family. NA PE1 1 +NX_Q9UBB9 Tuftelin-interacting protein 11 837 96820 5.45 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA Involved in pre-mRNA splicing, specifically in spliceosome disassembly during late-stage splicing events. Intron turnover seems to proceed through reactions in two lariat-intron associated complexes termed Intron Large (IL) and Intron Small (IS). In cooperation with DHX15 seems to mediate the transition of the U2, U5 and U6 snRNP-containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns. May play a role in the differentiation of ameloblasts and odontoblasts or in the forming of the enamel extracellular matrix. NA Belongs to the TFP11/STIP family. mRNA Splicing - Major Pathway PE1 22 +NX_Q9UBC0 Hepatocyte nuclear factor 6 465 51023 9.71 0 Nucleus NA Transcriptional activator. Binds the consensus sequence 5'-DHWATTGAYTWWD-3' on a variety of gene promoters such as those of HNF3B and TTR. Important for liver genes transcription. NA Belongs to the CUT homeobox family. Maturity onset diabetes of the young;Regulation of gene expression in early pancreatic precursor cells;Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells PE1 15 +NX_Q9UBC1 NF-kappa-B inhibitor-like protein 1 381 43204 6.86 0 Nucleoplasm;Nucleus Rheumatoid arthritis Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon-regulatory factor (IRF) signaling pathways. Contributes to the negative regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli. NA NA NA PE1 6 +NX_Q9UBC2 Epidermal growth factor receptor substrate 15-like 1 864 94255 4.93 0 Cytoplasmic vesicle;Coated pit;Nucleus;Cell membrane NA Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2. Phosphorylated on tyrosine residues by EGFR. NA EGFR downregulation;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 19 +NX_Q9UBC3 DNA (cytosine-5)-methyltransferase 3B 853 95751 8.74 0 Nucleoplasm;Nucleus Facioscapulohumeral muscular dystrophy 2;Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Function as transcriptional corepressor by associating with ZHX1. Required for DUX4 silencing in somatic cells (PubMed:27153398). Citrullinated by PADI4.;Sumoylated. Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family. Cysteine and methionine metabolism;Metabolic pathways;NoRC negatively regulates rRNA expression;PRC2 methylates histones and DNA;DNA methylation;SUMOylation of DNA methylation proteins PE1 20 +NX_Q9UBC5 Unconventional myosin-Ia 1043 118401 9.37 0 Nucleoplasm NA Involved in directing the movement of organelles along actin filaments. Phosphorylated by ALPK1. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. NA PE1 12 +NX_Q9UBC7 Galanin-like peptide 116 12545 5.86 0 Secreted NA Hypothalamic neuropeptide which binds to the G-protein-coupled galanin receptors (GALR1, GALR2 and GALR3). Involved in a large number of putative physiological functions in CNS homeostatic processes, including the regulation of gonadotropin-releasing hormone secretion.;Exhibits potent and dose-dependent vasoconstrictor and anti-edema activity in the cutaneous microvasculature, a physiologic effects which does not appear to be mediated via GALR1 or GALR2. Exhibits antimicrobial activity against Gram-negative bacterias, inducing bacterial membrane blebbing (PubMed:23537644). NA Belongs to the galanin family. NA PE2 19 +NX_Q9UBC9 Small proline-rich protein 3 169 18154 8.86 0 Cytoplasm NA Cross-linked envelope protein of keratinocytes. NA Belongs to the cornifin (SPRR) family. Formation of the cornified envelope PE1 1 +NX_Q9UBD0 Heat shock transcription factor, X-linked 423 46742 6.63 0 Cytoplasm;Nucleus NA NA NA Belongs to the HSF family. NA PE1 X +NX_Q9UBD3 Cytokine SCM-1 beta 114 12567 10.62 0 Secreted NA Chemotactic activity for lymphocytes but not for monocytes or neutrophils. NA Belongs to the intercrine gamma family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;G alpha (q) signalling events;Chemokine receptors bind chemokines PE1 1 +NX_Q9UBD5 Origin recognition complex subunit 3 711 82254 7.54 0 Cytoplasm;Nucleoplasm;Nucleus;Chromosome NA Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3. Multi-mono-ubiquitinated by OBI1; ubiquitination is important for efficient DNA replication origin site activation. Ubiquitination levels are low in mitotic and early G1-phAse cells and are induced in late G1-/early S-phase, peaking in S-phase and decrease toward the end of the cell cycle. Belongs to the ORC3 family. Cell cycle;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;Activation of ATR in response to replication stress;CDC6 association with the ORC:origin complex;Assembly of the pre-replicative complex;Activation of the pre-replicative complex;E2F-enabled inhibition of pre-replication complex formation;Assembly of the ORC complex at the origin of replication PE1 6 +NX_Q9UBD6 Ammonium transporter Rh type C 479 53179 5.93 12 Apical cell membrane NA Functions as an electroneutral and bidirectional ammonium transporter. May regulate transepithelial ammonia secretion. N-glycosylated. Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily. Rhesus glycoproteins mediate ammonium transport PE1 15 +NX_Q9UBD9 Cardiotrophin-like cytokine factor 1 225 25176 8.68 0 Cytoplasmic vesicle;Secreted;Nucleus Crisponi/Cold-induced sweating syndrome 2 In complex with CRLF1, forms a heterodimeric neurotropic cytokine that plays a crucial role during neuronal development (Probable). Also stimulates B-cells. Binds to and activates the ILST/gp130 receptor. NA Belongs to the IL-6 superfamily. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;IL-6-type cytokine receptor ligand interactions PE1 11 +NX_Q9UBE0 SUMO-activating enzyme subunit 1 346 38450 5.17 0 Nucleus NA The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2. NA Belongs to the ubiquitin-activating E1 family. Protein modification; protein sumoylation.;Ubiquitin mediated proteolysis;SUMO is conjugated to E1 (UBA2:SAE1);SUMO is transferred from E1 to E2 (UBE2I, UBC9) PE1 19 +NX_Q9UBE8 Serine/threonine-protein kinase NLK 527 58283 8.35 0 Cytoplasm;Cell junction;Nucleolus;Nucleoplasm;Nucleus NA Serine/threonine-protein kinase that regulates a number of transcription factors with key roles in cell fate determination. Positive effector of the non-canonical Wnt signaling pathway, acting downstream of WNT5A, MAP3K7/TAK1 and HIPK2. Activation of this pathway causes binding to and phosphorylation of the histone methyltransferase SETDB1. The NLK-SETDB1 complex subsequently interacts with PPARG, leading to methylation of PPARG target promoters at histone H3K9 and transcriptional silencing. The resulting loss of PPARG target gene transcription inhibits adipogenesis and promotes osteoblastogenesis in mesenchymal stem cells (MSCs). Negative regulator of the canonical Wnt/beta-catenin signaling pathway. Binds to and phosphorylates TCF7L2/TCF4 and LEF1, promoting the dissociation of the TCF7L2/LEF1/beta-catenin complex from DNA, as well as the ubiquitination and subsequent proteolysis of LEF1. Together these effects inhibit the transcriptional activation of canonical Wnt/beta-catenin target genes. Negative regulator of the Notch signaling pathway. Binds to and phosphorylates NOTCH1, thereby preventing the formation of a transcriptionally active ternary complex of NOTCH1, RBPJ/RBPSUH and MAML1. Negative regulator of the MYB family of transcription factors. Phosphorylation of MYB leads to its subsequent proteolysis while phosphorylation of MYBL1 and MYBL2 inhibits their interaction with the coactivator CREBBP. Other transcription factors may also be inhibited by direct phosphorylation of CREBBP itself. Acts downstream of IL6 and MAP3K7/TAK1 to phosphorylate STAT3, which is in turn required for activation of NLK by MAP3K7/TAK1. Upon IL1B stimulus, cooperates with ATF5 to activate the transactivation activity of C/EBP subfamily members. Phosphorylates ATF5 but also stabilizes ATF5 protein levels in a kinase-independent manner (PubMed:25512613). Phosphorylated on Thr-298. Intermolecular autophosphorylation on Thr-298 activates the enzyme.;NLK is phosphorylated by HIPK2 Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. MAPK signaling pathway;Wnt signaling pathway;Adherens junction;Ca2+ pathway PE1 17 +NX_Q9UBF1 Melanoma-associated antigen C2 373 41163 4.26 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination in presence of Ubl-conjugating enzyme UBE2H leading to p53/TP53 degradation. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzymes (E2) at the E3:substrate complex. NA NA NA PE1 X +NX_Q9UBF2 Coatomer subunit gamma-2 871 97622 5.56 0 COPI-coated vesicle membrane;Cytosol;Golgi apparatus membrane NA The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity). NA Belongs to the COPG family. COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 7 +NX_Q9UBF6 RING-box protein 2 113 12683 5.24 0 Cytoplasm;Nucleoplasm;Nucleus NA Probable component of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins involved in cell cycle progression, signal transduction and transcription (PubMed:10851089). CRLs complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins, ARIH1 mediating addition of the first ubiquitin on CRLs targets (By similarity). Through the RING-type zinc finger, seems to recruit the E2 ubiquitination enzyme to the complex and brings it into close proximity to the substrate. Promotes the neddylation of CUL5 via its interaction with UBE2F. May play a role in protecting cells from apoptosis induced by redox agents. Phosphorylation by CK2 is required for efficient degradation of NFKBIA and CDKN1B. Belongs to the RING-box family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 3 +NX_Q9UBF8 Phosphatidylinositol 4-kinase beta 816 91379 5.86 0 Mitochondrion outer membrane;Golgi apparatus;Endomembrane system;Rough endoplasmic reticulum membrane;Golgi apparatus membrane;Perinuclear region NA Phosphorylates phosphatidylinositol (PI) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate (PIP). May regulate Golgi disintegration/reorganization during mitosis, possibly via its phosphorylation. Involved in Golgi-to-plasma membrane trafficking (By similarity).;(Microbial infection) Plays an essential role in Aichi virus RNA replication (PubMed:22124328, PubMed:27989622, PubMed:22258260). Recruited by ACBD3 at the viral replication sites (PubMed:22124328, PubMed:27989622). NA Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily. Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Synthesis of PIPs at the Golgi membrane PE1 1 +NX_Q9UBF9 Myotilin 498 55395 9.18 0 Z line;Sarcolemma;Cytoskeleton Myopathy, myofibrillar, 3;Spheroid body myopathy Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells. NA Belongs to the myotilin/palladin family. NA PE1 5 +NX_Q9UBG0 C-type mannose receptor 2 1479 166674 5.54 1 Membrane NA May play a role as endocytotic lectin receptor displaying calcium-dependent lectin activity. Internalizes glycosylated ligands from the extracellular space for release in an endosomal compartment via clathrin-mediated endocytosis. May be involved in plasminogen activation system controlling the extracellular level of PLAUR/PLAU, and thus may regulate protease activity at the cell surface. May contribute to cellular uptake, remodeling and degradation of extracellular collagen matrices. May play a role during cancer progression as well as in other chronic tissue destructive diseases acting on collagen turnover. May participate in remodeling of extracellular matrix cooperating with the matrix metalloproteinases (MMPs). N-glycosylated. NA Phagosome;Tuberculosis;Cross-presentation of soluble exogenous antigens (endosomes) PE1 17 +NX_Q9UBG3 Cornulin 495 53533 5.73 0 Cytoplasm NA Survival factor that participates in the clonogenicity of squamous esophageal epithelium cell lines, attenuates deoxycholic acid (DCA)-induced apoptotic cell death and release of calcium. When overexpressed in oral squamous carcinom cell lines, regulates negatively cell proliferation by the induction of G1 arrest. NA Belongs to the S100-fused protein family. NA PE1 1 +NX_Q9UBG7 Recombining binding protein suppressor of hairless-like protein 517 56751 7.86 0 Nucleus NA Putative transcription factor, which cooperates with EBNA2 to activate transcription. NA Belongs to the Su(H) family. Notch signaling pathway PE2 20 +NX_Q9UBH0 Interleukin-36 receptor antagonist protein 155 16962 5.12 0 Secreted Psoriasis 14, pustular Inhibits the activity of interleukin-36 (IL36A,IL36B and IL36G) by binding to receptor IL1RL2 and preventing its association with the coreceptor IL1RAP for signaling. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor. Proposed to play a role in skin inflammation. May be involved in the innate immune response to fungal pathogens, such as Aspergillus fumigatus. May activate an anti-inflammatory signaling pathway by recruiting SIGIRR. NA Belongs to the IL-1 family. Interleukin-36 pathway PE1 2 +NX_Q9UBH6 Xenotropic and polytropic retrovirus receptor 1 696 81535 8.68 8 Cell membrane Basal ganglia calcification, idiopathic, 6 Plays a role in phosphate homeostasis. Mediates phosphate export from the cell (PubMed:23791524, PubMed:25938945). Binds inositol hexakisphosphate (Ins6P) and similar inositol polyphosphates, such as 5-diphospho-inositol pentakisphosphate (5-InsP7); these are important intracellular signaling molecules (PubMed:27080106). NA Belongs to the SYG1 (TC 2.A.94) family. NA PE1 1 +NX_Q9UBI1 COMM domain-containing protein 3 195 22151 5.62 0 Cytoplasm;Nucleus NA May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966). Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits (PubMed:23637203). NA NA Neutrophil degranulation;Neddylation PE1 10 +NX_Q9UBI4 Stomatin-like protein 1 398 42968 8.18 1 Cell membrane;Membrane;Cytoplasmic vesicle;Cytosol;Membrane raft;Late endosome membrane NA May play a role in cholesterol transfer to late endosomes (PubMed:19696025). May play a role in modulating membrane acid-sensing ion channels. Can specifically inhibit proton-gated current of ASIC1 isoform 1. Can increase inactivation speed of ASIC3. May be involved in regulation of proton sensing in dorsal root ganglions (By similarity). May play a role in protecting FBXW7 isoform 3 from degradation (PubMed:23082202). NA Belongs to the band 7/mec-2 family. NA PE1 15 +NX_Q9UBI6 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 72 8006 9.14 0 Mitochondrion;Cell membrane NA Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. NA Belongs to the G protein gamma family. MAPK signaling pathway;Chemokine signaling pathway;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;Regulation of actin cytoskeleton;G alpha (i) signalling events;G alpha (q) signalling events;G alpha (s) signalling events;G beta:gamma signalling through PI3Kgamma;G alpha (12/13) signalling events;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G-protein activation;ADP signalling through P2Y purinoceptor 12;Prostacyclin signalling through prostacyclin receptor;Adrenaline,noradrenaline inhibits insulin secretion;Ca2+ pathway;G beta:gamma signalling through PLC beta;ADP signalling through P2Y purinoceptor 1;G alpha (z) signalling events;Glucagon-type ligand receptors;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Presynaptic function of Kainate receptors;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling;G beta:gamma signalling through BTK;G beta:gamma signalling through CDC42 PE1 1 +NX_Q9UBI9 Headcase protein homolog 543 58837 8.89 0 NA NA May play an important role in some human cancers. May be part of the regulatory mechanism in the development of epithelial tube networks such as the circulatory system and lungs. NA NA NA PE1 6 +NX_Q9UBJ2 ATP-binding cassette sub-family D member 2 740 83233 9.04 4 Peroxisome membrane NA Probable transporter. NA Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. ABC transporters;Peroxisome;ABC transporters in lipid homeostasis;Class I peroxisomal membrane protein import PE1 12 +NX_Q9UBK2 Peroxisome proliferator-activated receptor gamma coactivator 1-alpha 798 91027 5.71 0 Nucleus;Cytoplasm;Nucleoplasm;PML body NA Transcriptional coactivator for steroid receptors and nuclear receptors. Greatly increases the transcriptional activity of PPARG and thyroid hormone receptor on the uncoupling protein promoter. Can regulate key mitochondrial genes that contribute to the program of adaptive thermogenesis. Plays an essential role in metabolic reprogramming in response to dietary availability through coordination of the expression of a wide array of genes involved in glucose and fatty acid metabolism. Induces the expression of PERM1 in the skeletal muscle in an ESRRA-dependent manner. Also involved in the integration of the circadian rhythms and energy metabolism. Required for oscillatory expression of clock genes, such as ARNTL/BMAL1 and NR1D1, through the coactivation of RORA and RORC, and metabolic genes, such as PDK4 and PEPCK. Heavily acetylated by GCN5 and biologically inactive under conditions of high nutrients. Deacetylated by SIRT1 in low nutrients/high NAD conditions.;Ubiquitinated. Ubiquitination by RNF34 induces proteasomal degradation.;Phosphorylation by AMPK in skeletal muscle increases activation of its own promoter. Phosphorylated by CLK2.;PPARGC1A is phosphorylated by CLK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Insulin signaling pathway;Adipocytokine signaling pathway;Huntington's disease;PPARA activates gene expression;Circadian Clock;Transcriptional activation of mitochondrial biogenesis;Activation of PPARGC1A (PGC-1alpha) by phosphorylation;Transcriptional regulation of white adipocyte differentiation;Regulation of RUNX2 expression and activity;SUMOylation of transcription cofactors;FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes PE1 4 +NX_Q9UBK5 Hematopoietic cell signal transducer 93 9489 8.63 1 Cytoplasm;Cell membrane;Centriolar satellite;Membrane;Cytoplasmic vesicle NA Transmembrane adapter protein which associates with KLRK1 to form an activation receptor KLRK1-HCST in lymphoid and myeloid cells; this receptor plays a major role in triggering cytotoxicity against target cells expressing cell surface ligands such as MHC class I chain-related MICA and MICB, and UL16-binding proteins (ULBPs); these ligands are up-regulated by stress conditions and pathological state such as viral infection and tumor transformation. Functions as docking site for PI3-kinase PIK3R1 and GRB2. Interaction of ULBPs with KLRK1-HCST triggers calcium mobilization and activation of the PIK3R1, MAP2K/ERK, and JAK2/STAT5 signaling pathways. Both PIK3R1 and GRB2 are required for full KLRK1-HCST-mediated activation and ultimate killing of target cells. In NK cells, KLRK1-HCST signaling directly induces cytotoxicity and enhances cytokine production initiated via DAP12/TYROBP-associated receptors. In T-cells, it provides primarily costimulation for TCR-induced signals. KLRK1-HCST receptor plays a role in immune surveillance against tumors and is required for cytolysis of tumors cells; indeed, melanoma cells that do not express KLRK1 ligands escape from immune surveillance mediated by NK cells. O-glycosylated.;Phosphorylated; PIK3R1 and GRB2 associate specifically with tyrosine-phosphorylated HCST. Belongs to the DAP10 family. Natural killer cell mediated cytotoxicity;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_Q9UBK7 Rab-like protein 2A 228 26115 4.75 0 NA NA Plays an essential role in male fertility, sperm intra-flagellar transport, and tail assembly. Binds, in a GTP-regulated manner, to a specific set of effector proteins including key proteins involved in cilia development and function and delivers them into the growing sperm tail. NA Belongs to the small GTPase superfamily. Rab family. NA PE1 2 +NX_Q9UBK8 Methionine synthase reductase 698 77674 6.04 0 Nucleoplasm;Cytoplasm;Cytosol;Cytoskeleton Homocystinuria-megaloblastic anemia, cblE complementation type;Neural tube defects, folate-sensitive Involved in the reductive regeneration of cob(I)alamin (vitamin B12) cofactor required for the maintenance of methionine synthase in a functional state. Necessary for utilization of methylgroups from the folate cycle, thereby affecting transgenerational epigenetic inheritance. Folate pathway donates methyl groups necessary for cellular methylation and affects different pathways such as DNA methylation, possibly explaining the transgenerational epigenetic inheritance effects. NA NA Methylation;Sulfur amino acid metabolism;Cobalamin (Cbl, vitamin B12) transport and metabolism;Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE;Defective MTR causes methylmalonic aciduria and homocystinuria type cblG PE1 5 +NX_Q9UBK9 Protein UXT 157 18246 7.02 0 Cytoplasm;Centriolar satellite;Nucleoplasm;Spindle pole;Centrosome;Nucleus NA Plays a role in protecting cells against TNF-alpha-induced apoptosis by preventing the recruitment of FADD and caspase 8 to the apoptotic complex I, composed of TRADD, TRAF2 and RIPK1/RIP.;Involved in gene transcription regulation (PubMed:28106301, PubMed:21730289). Acts in concert with the corepressor URI1 to regulate androgen receptor AR-mediated transcription (PubMed:11854421, PubMed:21730289). Together with URI1, associates with chromatin to the NKX3-1 promoter region (PubMed:21730289). Negatively regulates the transcriptional activity of the estrogen receptor ESR1 by inducing its translocation into the cytoplasm (PubMed:28106301). May act as nuclear chaperone that facilitates the formation of the NF-kappa-B enhanceosome and thus positively regulates NF-kappa-B transcription activity (PubMed:17620405, PubMed:21307340). Potential component of mitochondrial-associated LRPPRC, a multidomain organizer that potentially integrates mitochondria and the microtubular cytoskeleton with chromosome remodeling (PubMed:17554592). Increasing concentrations of UXT contributes to progressive aggregation of mitochondria and cell death potentially through its association with LRPPRC (PubMed:17554592). Suppresses cell transformation and it might mediate this function by interaction and inhibition of the biological activity of cell proliferation and survival stimulatory factors like MECOM (PubMed:17635584). NA Belongs to the UXT family. Transcriptional Regulation by E2F6 PE1 X +NX_Q9UBL0 cAMP-regulated phosphoprotein 21 812 89196 6.51 0 Cytoplasm;Cytosol;Nucleolus NA May act as a competitive inhibitor of calmodulin-dependent enzymes such as calcineurin in neurons. Is methylated by CARM1 in immature thymocytes.;Phosphorylation at Ser-56 favors interaction with CALM1. NA NA PE1 3 +NX_Q9UBL3 Set1/Ash2 histone methyltransferase complex subunit ASH2 628 68723 5.45 0 Nucleoplasm;Nucleus;Cell membrane NA Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3, but not if the neighboring 'Lys-9' residue is already methylated. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3. May function as a transcriptional regulator. May play a role in hematopoiesis. Both monomethylated and dimethylated on arginine residues in the C-terminus. Arg-296 is the major site. Methylation is not required for nuclear localization, nor for MLL complex integrity or maintenance of global histone H3K4me3 levels. NA PKMTs methylate histone lysines;Formation of the beta-catenin:TCF transactivating complex;Deactivation of the beta-catenin transactivating complex;Activation of anterior HOX genes in hindbrain development during early embryogenesis;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 8 +NX_Q9UBL6 Copine-7 633 70294 5.97 0 Cytoplasm;Nucleus;Cell membrane NA Calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes. NA Belongs to the copine family. Glycerophospholipid biosynthesis PE1 16 +NX_Q9UBL9 P2X purinoceptor 2 471 51754 8.4 2 Cell membrane Deafness, autosomal dominant, 41 Ion channel gated by extracellular ATP involved in a variety of cellular responses, such as excitatory postsynaptic responses in sensory neurons, neuromuscular junctions (NMJ) formation, hearing, perception of taste and peristalsis. In the inner ear, regulates sound transduction and auditory neurotransmission, outer hair cell electromotility, inner ear gap junctions, and K(+) recycling. Mediates synaptic transmission between neurons and from neurons to smooth muscle. NA Belongs to the P2X receptor family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;Elevation of cytosolic Ca2+ levels;Platelet homeostasis PE1 12 +NX_Q9UBM1 Phosphatidylethanolamine N-methyltransferase 199 22134 8.89 3 Mitochondrion membrane;Cytosol;Endoplasmic reticulum membrane NA Catalyzes the three sequential steps of the methylation pathway of phosphatidylcholine biosynthesis, the SAM-dependent methylation of phosphatidylethanolamine (PE) to phosphatidylmonomethylethanolamine (PMME), PMME to phosphatidyldimethylethanolamine (PDME), and PDME to phosphatidylcholine (PC). Is N-glycosylated with high-mannose oligosaccharides. Belongs to the class VI-like SAM-binding methyltransferase superfamily. PEMT/PEM2 methyltransferase family. Phospholipid metabolism; phosphatidylcholine biosynthesis.;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PC PE1 17 +NX_Q9UBM4 Opticin 332 37261 5.39 0 Extracellular matrix NA Binds collagen fibrils. O-glycosylated. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily. Degradation of the extracellular matrix PE1 1 +NX_Q9UBM7 7-dehydrocholesterol reductase 475 54489 8.95 7 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum membrane Smith-Lemli-Opitz syndrome Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC). NA Belongs to the ERG4/ERG24 family. Steroid biosynthesis; cholesterol biosynthesis.;Steroid biosynthesis;Metabolic pathways;Activation of gene expression by SREBF (SREBP);Cholesterol biosynthesis via desmosterol;Cholesterol biosynthesis via lathosterol PE1 11 +NX_Q9UBM8 Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C 478 56061 8.28 1 Golgi apparatus membrane NA Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains (By similarity). Does not catalyze the transfer of GlcNAc to the Manalpha1-6 arm to form GlcNAcBeta1-4Manalpha1-6 linkage ('GnT-VI' activity). NA Belongs to the glycosyltransferase 54 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;N-Glycan antennae elongation PE2 12 +NX_Q9UBN1 Voltage-dependent calcium channel gamma-4 subunit 327 36579 9.23 4 Cytosol;Cell membrane NA Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (PubMed:21127204). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs), including GRIA1 and GRIA4. Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization (PubMed:21172611). NA Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. MAPK signaling pathway;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Presynaptic depolarization and calcium channel opening;Trafficking of AMPA receptors;LGI-ADAM interactions;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 17 +NX_Q9UBN4 Short transient receptor potential channel 4 977 112101 7.81 6 Membrane;Cell membrane NA Form a receptor-activated non-selective calcium permeant cation channel. Acts as a cell-cell contact-dependent endothelial calcium entry channel. Probably operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Mediates cation entry, with an enhanced permeability to barium over calcium. May also be activated by intracellular calcium store depletion. Phosphorylation modulates TRPC channel function by regulating the level of TRPC4 at the cell surface and by increasing the association with SLC9A3R1/NHERF. Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC4 sub-subfamily. TRP channels;Role of second messengers in netrin-1 signaling PE1 13 +NX_Q9UBN6 Tumor necrosis factor receptor superfamily member 10D 386 41823 6.19 1 Membrane;Cytoskeleton;Cell membrane NA Receptor for the cytotoxic ligand TRAIL. Contains a truncated death domain and hence is not capable of inducing apoptosis but protects against TRAIL-mediated apoptosis. Reports are contradictory with regards to its ability to induce the NF-kappa-B pathway. According to PubMed:9382840, it cannot but according to PubMed:9430226, it can induce the NF-kappa-B pathway. NA NA Cytokine-cytokine receptor interaction;Apoptosis;Natural killer cell mediated cytotoxicity;Measles;Influenza A;Cell surface interactions at the vascular wall;TRAIL signaling;TP53 Regulates Transcription of Death Receptors and Ligands PE1 8 +NX_Q9UBN7 Histone deacetylase 6 1215 131419 5.14 0 Cytoplasm;Perikaryon;Nucleoplasm;Axon;Dendrite;Nucleus Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia In addition to its protein deacetylase activity, plays a key role in the degradation of misfolded proteins: when misfolded proteins are too abundant to be degraded by the chaperone refolding system and the ubiquitin-proteasome, mediates the transport of misfolded proteins to a cytoplasmic juxtanuclear structure called aggresome. Probably acts as an adapter that recognizes polyubiquitinated misfolded proteins and target them to the aggresome, facilitating their clearance by autophagy.;Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes (By similarity). Plays a central role in microtubule-dependent cell motility via deacetylation of tubulin. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. Sumoylated in vitro.;Ubiquitinated. Its polyubiquitination however does not lead to its degradation.;Phosphorylated by AURKA.;HDAC6 is phosphorylated by AURKA (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the histone deacetylase family. HD type 2 subfamily. Notch-HLH transcription pathway;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;HSF1 activation;Cilium Assembly;Transcriptional regulation by RUNX2;RUNX2 regulates osteoblast differentiation PE1 X +NX_Q9UBP0 Spastin 616 67197 9.67 0 Cytoplasm;Endoplasmic reticulum membrane;Lipid droplet;Nucleus membrane;Membrane;Midbody;Endosome;Endoplasmic reticulum;Centrosome;Nucleoplasm;Cytosol;Spindle;Perinuclear region;Nucleus;Cytoskeleton Spastic paraplegia 4, autosomal dominant Involved in lipid metabolism by regulating the size and distribution of lipid droplets.;ATP-dependent microtubule severing protein that specifically recognizes and cuts microtubules that are polyglutamylated (PubMed:11809724, PubMed:15716377, PubMed:16219033, PubMed:17389232, PubMed:20530212, PubMed:22637577, PubMed:26875866). Preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866). Severing activity is not dependent on tubulin acetylation or detyrosination (PubMed:26875866). Microtubule severing promotes reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. It is critical for the biogenesis and maintenance of complex microtubule arrays in axons, spindles and cilia. SPAST is involved in abscission step of cytokinesis and nuclear envelope reassembly during anaphase in cooperation with the ESCRT-III complex (PubMed:19000169, PubMed:21310966, PubMed:26040712). Recruited at the midbody, probably by IST1, and participates in membrane fission during abscission together with the ESCRT-III complex (PubMed:21310966). Recruited to the nuclear membrane by IST1 and mediates microtubule severing, promoting nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). Required for membrane traffic from the endoplasmic reticulum (ER) to the Golgi and endosome recycling (PubMed:23897888). Recruited by IST1 to endosomes and regulates early endosomal tubulation and recycling by mediating microtubule severing (PubMed:23897888). Probably plays a role in axon growth and the formation of axonal branches (PubMed:15716377). NA Belongs to the AAA ATPase family. Spastin subfamily. NA PE1 2 +NX_Q9UBP4 Dickkopf-related protein 3 350 38390 4.59 0 Cytoplasmic vesicle;Cytosol;Secreted;Nucleus NA Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity). N- and O-glycosylated. Belongs to the dickkopf family. NA PE1 11 +NX_Q9UBP5 Hairy/enhancer-of-split related with YRPW motif protein 2 337 35808 8.31 0 Cytosol;Nucleus NA Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6. NA Belongs to the HEY family. NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;RUNX2 regulates osteoblast differentiation;NOTCH3 Intracellular Domain Regulates Transcription;NOTCH4 Intracellular Domain Regulates Transcription PE1 6 +NX_Q9UBP6 tRNA (guanine-N(7)-)-methyltransferase 276 31471 7.19 0 Nucleoplasm;Nucleus NA Methyltransferase that mediates the formation of N(7)-methylguanine in a subset of RNA species, such as tRNAs, mRNAs and microRNAs (miRNAs) (PubMed:12403464, PubMed:31031084, PubMed:31031083). Catalyzes the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA (PubMed:12403464, PubMed:31031084). Also acts as a methyltransferase for a subset of internal N(7)-methylguanine in mRNAs (PubMed:31031084). Internal N(7)-methylguanine methylation of mRNAs regulates translation (PubMed:31031084). Also methylates a specific subset of miRNAs, such as let-7 (PubMed:31031083). N(7)-methylguanine methylation of let-7 miRNA promotes let-7 miRNA processing by disrupting an inhibitory secondary structure within the primary miRNA transcript (pri-miRNA) (PubMed:31031083). Acts as a regulator of embryonic stem cell self-renewal and differentiation (By similarity). Phosphorylation at Ser-27 inactivates its catalytic activity but does not affect the interaction with WDR4. Belongs to the class I-like SAM-binding methyltransferase superfamily. TrmB family. tRNA modification; N(7)-methylguanine-tRNA biosynthesis.;tRNA modification in the nucleus and cytosol PE1 12 +NX_Q9UBP8 Kidney-associated antigen 1 84 8969 9.51 0 NA NA NA NA NA NA PE2 6 +NX_Q9UBP9 PTB domain-containing engulfment adapter protein 1 304 34490 8.04 0 Cytoplasm;Cytoplasmic vesicle NA May function as an adapter protein. Required for efficient phagocytosis of apoptotic cells. Modulates cellular glycosphingolipid and cholesterol transport. May play a role in the internalization and endosomal trafficking of various LRP1 ligands, such as PSAP. Increases cellular levels of GTP-bound ARF6. NA Belongs to the ced-6 family. NA PE1 2 +NX_Q9UBQ0 Vacuolar protein sorting-associated protein 29 182 20506 6.29 0 Cytoplasm;Endosome membrane;Early endosome;Membrane;Endosome;Late endosome;Lysosome;Cytoplasmic vesicle;Cytosol NA Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins. The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5. Required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA) (PubMed:15247922, PubMed:21725319, PubMed:23563491). Acts also as component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1) (PubMed:28892079). In the endosomes, retriever complex drives the retrieval and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of numerous cell surface proteins associated with processes that include cell migration, cell adhesion, nutrient supply and cell signaling (PubMed:28892079). The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes (PubMed:28892079). Involved in GLUT1 endosome-to-plasma membrane trafficking; the function is dependent of association with ANKRD27 (PubMed:24856514).;(Microbial infection) The heterotrimeric retromer cargo-selective complex (CSC) mediates the exit of human papillomavirus from the early endosome and the delivery to the Golgi apparatus. NA Belongs to the VPS29 family. WNT ligand biogenesis and trafficking PE1 12 +NX_Q9UBQ5 Eukaryotic translation initiation factor 3 subunit K 218 25060 4.81 0 Cytoplasm;Cytosol;Nucleus NA Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). NA Belongs to the eIF-3 subunit K family. L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit PE1 19 +NX_Q9UBQ6 Exostosin-like 2 330 37466 9.08 1 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Secreted NA Glycosyltransferase required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains. The soluble form derives from the membrane form by proteolytic processing. Belongs to the glycosyltransferase 47 family. Glycan metabolism; heparan sulfate biosynthesis.;Glycosaminoglycan biosynthesis - heparan sulfate;Metabolic pathways;XBP1(S) activates chaperone genes PE1 1 +NX_Q9UBQ7 Glyoxylate reductase/hydroxypyruvate reductase 328 35668 7.01 0 Nucleoplasm;Cytosol Hyperoxaluria primary 2 Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate oxidizes D-glycerate to hydroxypyruvate. NA Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. Pyruvate metabolism;Glyoxylate and dicarboxylate metabolism;Metabolic pathways;Glyoxylate metabolism and glycine degradation PE1 9 +NX_Q9UBR1 Beta-ureidopropionase 384 43166 6.09 0 Cytoplasm Beta-ureidopropionase deficiency Catalyzes a late step in pyrimidine degradation (PubMed:22525402, PubMed:24526388). Converts N-carbamoyl-beta-alanine (3-ureidopropanoate) into beta-alanine, ammonia and carbon dioxide (PubMed:10542323, PubMed:11508704, PubMed:10415095, PubMed:29976570, PubMed:22525402, PubMed:24526388). Likewise, converts N-carbamoyl-beta-aminoisobutyrate (3-ureidoisobutyrate) into beta-aminoisobutyrate, ammonia and carbon dioxide (Probable). NA Belongs to the carbon-nitrogen hydrolase superfamily. BUP family. Amino-acid biosynthesis; beta-alanine biosynthesis.;Pyrimidine metabolism;beta-Alanine metabolism;Pantothenate and CoA biosynthesis;Drug metabolism - other enzymes;Metabolic pathways;Pyrimidine catabolism PE1 22 +NX_Q9UBR2 Cathepsin Z 303 33868 6.7 0 Cytoplasmic vesicle;Endoplasmic reticulum;Lysosome NA Exhibits carboxy-monopeptidase as well as carboxy-dipeptidase activity (PubMed:10504234). Capable of producing kinin potentiating peptides (By similarity). NA Belongs to the peptidase C1 family. Lysosome;Lysosome Vesicle Biogenesis;Metabolism of Angiotensinogen to Angiotensins;COPII-mediated vesicle transport;Cargo concentration in the ER;Neutrophil degranulation PE1 20 +NX_Q9UBR4 LIM/homeobox protein Lhx3 397 43358 8.47 0 Nucleus Pituitary hormone deficiency, combined, 3 Acts as a transcriptional activator. Binds to and activates the promoter of the alpha-glycoprotein gene, and synergistically enhances transcription from the prolactin promoter in cooperation with POU1F1/Pit-1 (By similarity). Required for the establishment of the specialized cells of the pituitary gland and the nervous system. Involved in the development of interneurons and motor neurons in cooperation with LDB1 and ISL1. NA NA Regulation of expression of SLITs and ROBOs PE1 9 +NX_Q9UBR5 Chemokine-like factor 152 17170 9.41 3 Membrane;Cytoplasmic vesicle;Secreted NA Has chemotactic response in monocytes, neutrophils and lymphocytes (PubMed:11415443). Binds CCR4 (PubMed:16137713).;May play an important role in inflammation and regeneration of skeletal muscle. Partly inhibited by interleukin 10. NA Belongs to the chemokine-like factor family. NA PE1 16 +NX_Q9UBS0 Ribosomal protein S6 kinase beta-2 482 53455 6.91 0 Cytoplasm;Cytosol;Nucleus NA Phosphorylates specifically ribosomal protein S6 (PubMed:29750193). Seems to act downstream of mTOR signaling in response to growth factors and nutrients to promote cell proliferation, cell growth and cell cycle progression in an alternative pathway regulated by MEAK7 (PubMed:29750193). Phosphorylated and activated by MTOR. Phosphorylation by PKC within the NLS in response to mitogenic stimuli causes cytoplasmic retention. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily. ErbB signaling pathway;mTOR signaling pathway;TGF-beta signaling pathway;Fc gamma R-mediated phagocytosis;Insulin signaling pathway;Acute myeloid leukemia;AKT phosphorylates targets in the nucleus;Constitutive Signaling by AKT1 E17K in Cancer PE1 11 +NX_Q9UBS3 DnaJ homolog subfamily B member 9 223 25518 8.37 0 Endoplasmic reticulum;Cytosol;Endoplasmic reticulum lumen NA Co-chaperone for Hsp70 protein HSPA5/BiP that acts as a key repressor of the ERN1/IRE1-mediated unfolded protein response (UPR) (By similarity). J domain-containing co-chaperones stimulate the ATPase activity of Hsp70 proteins and are required for efficient substrate recognition by Hsp70 proteins (PubMed:18400946). In the unstressed endoplasmic reticulum, interacts with the luminal region of ERN1/IRE1 and selectively recruits HSPA5/BiP: HSPA5/BiP disrupts the dimerization of the active ERN1/IRE1 luminal region, thereby inactivating ERN1/IRE1 (By similarity). Also involved in endoplasmic reticulum-associated degradation (ERAD) of misfolded proteins. Required for survival of B-cell progenitors and normal antibody production (By similarity). NA NA XBP1(S) activates chaperone genes PE1 7 +NX_Q9UBS4 DnaJ homolog subfamily B member 11 358 40514 5.81 0 Endoplasmic reticulum;Endoplasmic reticulum lumen Polycystic kidney disease 6 with or without polycystic liver disease As a co-chaperone for HSPA5 it is required for proper folding, trafficking or degradation of proteins (PubMed:10827079, PubMed:15525676, PubMed:29706351). Binds directly to both unfolded proteins that are substrates for ERAD and nascent unfolded peptide chains, but dissociates from the HSPA5-unfolded protein complex before folding is completed (PubMed:15525676). May help recruiting HSPA5 and other chaperones to the substrate. Stimulates HSPA5 ATPase activity (PubMed:10827079). It is necessary for maturation and correct trafficking of PKD1 (PubMed:29706351). Contains high-mannose Endo H-sensitive carbohydrates.;Cys-169, Cys-171, Cys-193 and Cys-196 form intramolecular disulfide bonds. The preferential partner for each Cys is not known.;Thr-188 was reported to be phosphorylated upon DNA damage by ATM or ATR; however as this position has been shown to be in the ER lumen, the in vivo relevance is not proven. NA Protein processing in endoplasmic reticulum;XBP1(S) activates chaperone genes PE1 3 +NX_Q9UBS5 Gamma-aminobutyric acid type B receptor subunit 1 961 108320 8.49 7 Cell membrane;Postsynaptic cell membrane;Secreted;Centrosome;Dendrite NA May regulate the formation of functional GABBR1/GABBR2 heterodimers by competing for GABBR2 binding. This could explain the observation that certain small molecule ligands exhibit differential affinity for central versus peripheral sites.;Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2 (PubMed:9872316, PubMed:9872744, PubMed:15617512, PubMed:18165688, PubMed:22660477, PubMed:24305054). Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins (PubMed:18165688). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase (PubMed:10906333, PubMed:10773016, PubMed:10075644, PubMed:9872744, PubMed:24305054). Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis (PubMed:10075644). Calcium is required for high affinity binding to GABA (By similarity). Plays a critical role in the fine-tuning of inhibitory synaptic transmission (PubMed:9844003). Pre-synaptic GABA receptor inhibits neurotransmitter release by down-regulating high-voltage activated calcium channels, whereas postsynaptic GABA receptor decreases neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials (PubMed:9844003, PubMed:9872316, PubMed:10075644, PubMed:9872744, PubMed:22660477). Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception (Probable). Activated by (-)-baclofen, cgp27492 and blocked by phaclofen (PubMed:9844003, PubMed:9872316, PubMed:24305054). NA Belongs to the G-protein coupled receptor 3 family. GABA-B receptor subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse;G alpha (i) signalling events;Class C/3 (Metabotropic glutamate/pheromone receptors);Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;GABA B receptor activation PE1 6 +NX_Q9UBS8 E3 ubiquitin-protein ligase RNF14 474 53837 4.66 0 Cytoplasm;Cytosol;Nucleus NA Might act as an E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes and then transfers it to substrates, which could be nuclear proteins. Could play a role as a coactivator for androgen- and, to a lesser extent, progesterone-dependent transcription. RING-type zinc finger-dependent and UBE2E2-dependent autoubiquitination. Belongs to the RBR family. RNF14 subfamily. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 5 +NX_Q9UBS9 SUN domain-containing ossification factor 1254 139430 4.93 1 Cytosol;Rough endoplasmic reticulum membrane;Nucleolus NA Required for bone modeling during late embryogenesis. Regulates type I collagen synthesis in osteoblasts during their postnatal maturation (By similarity). N-glycosylated.;O-glycosylated. O-mannosylated by POMT1 and POMT2 and elongated by POMGNT1. NA NA PE1 1 +NX_Q9UBT2 SUMO-activating enzyme subunit 2 640 71224 5.15 0 Cytoplasm;Nucleoplasm;Nucleus NA The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2. Sumoylated with SUMO1 and SUMO2/3 and by UBC9. Sumoylation at Lys-236 inhibits enzymatic activity. Sumoylation at the C-terminal lysine cluster plays an essential role in nuclear trafficking. Belongs to the ubiquitin-activating E1 family. Protein modification; protein sumoylation.;Ubiquitin mediated proteolysis;SUMO is conjugated to E1 (UBA2:SAE1);SUMO is transferred from E1 to E2 (UBE2I, UBC9) PE1 19 +NX_Q9UBT3 Dickkopf-related protein 4 224 24876 8.81 0 Secreted NA Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity). Appears to be not glycosylated.;Can be proteolytically processed by a furin-like protease. Belongs to the dickkopf family. Wnt signaling pathway;TCF dependent signaling in response to WNT;Negative regulation of TCF-dependent signaling by WNT ligand antagonists;Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling PE1 8 +NX_Q9UBT6 DNA polymerase kappa 870 98809 8.42 0 Nucleoplasm;Nucleus NA DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Depending on the context, it inserts the correct base, but causes frequent base transitions, transversions and frameshifts. Lacks 3'-5' proofreading exonuclease activity. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity. NA Belongs to the DNA polymerase type-Y family. Fanconi anemia pathway;Termination of translesion DNA synthesis;Translesion synthesis by POLK;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;HDR through Homologous Recombination (HRR);Gap-filling DNA repair synthesis and ligation in GG-NER;Dual Incision in GG-NER PE1 5 +NX_Q9UBT7 Alpha-catulin 734 81896 6.22 0 Cytoskeleton;Cell membrane NA May modulate the Rho pathway signaling by providing a scaffold for the Lbc Rho guanine nucleotide exchange factor (ARHGEF1). NA Belongs to the vinculin/alpha-catenin family. NA PE1 9 +NX_Q9UBU2 Dickkopf-related protein 2 259 28447 9.34 0 Golgi apparatus;Secreted NA Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity). May be proteolytically processed by a furin-like protease. Belongs to the dickkopf family. Wnt signaling pathway;TCF dependent signaling in response to WNT;Negative regulation of TCF-dependent signaling by WNT ligand antagonists;Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling PE1 4 +NX_Q9UBU3 Appetite-regulating hormone 117 12911 5.35 0 Secreted NA Obestatin may be the ligand for GPR39. May have an appetite-reducing effect resulting in decreased food intake. May reduce gastric emptying activity and jejunal motility (By similarity).;Ghrelin is the ligand for growth hormone secretagogue receptor type 1 (GHSR). Induces the release of growth hormone from the pituitary. Has an appetite-stimulating effect, induces adiposity and stimulates gastric acid secretion. Involved in growth regulation. Amidation of Leu-98 is essential for obestatin activity.;O-octanoylation or O-decanoylation is essential for ghrelin activity. The O-decanoylated forms Ghrelin-27-C10 and Ghrelin-28-C10 differ in the length of the carbon backbone of the carboxylic acid bound to Ser-26. A small fraction of ghrelin, ghrelin-28-C10:1, may be modified with a singly unsaturated carboxylic acid (PubMed:10604470). Belongs to the motilin family. Peptide ligand-binding receptors;G alpha (q) signalling events;Synthesis, secretion, and deacylation of Ghrelin PE1 3 +NX_Q9UBU6 Protein FAM8A1 413 44123 6.76 3 Membrane;Golgi apparatus NA NA NA NA NA PE1 6 +NX_Q9UBU7 Protein DBF4 homolog A 674 76858 8.03 0 Nucleoplasm;Nucleus NA Regulatory subunit for CDC7 which activates its kinase activity thereby playing a central role in DNA replication and cell proliferation. Required for progression of S phase. The complex CDC7-DBF4A selectively phosphorylates MCM2 subunit at 'Ser-40' and 'Ser-53' and then is involved in regulating the initiation of DNA replication during cell cycle. NA NA Activation of ATR in response to replication stress;Activation of the pre-replicative complex PE1 7 +NX_Q9UBU8 Mortality factor 4-like protein 1 362 41474 9.29 0 Nucleus speckle;Nucleus NA Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when directly recruited to sites of DNA damage. Also component of the mSin3A complex which acts to repress transcription by deacetylation of nucleosomal histones. Required for homologous recombination repair (HRR) and resistance to mitomycin C (MMC). Involved in the localization of PALB2, BRCA2 and RAD51, but not BRCA1, to DNA-damage foci. NA NA HATs acetylate histones PE1 15 +NX_Q9UBU9 Nuclear RNA export factor 1 619 70182 8.74 0 Cytoplasm;Nucleus speckle;Nuclear pore complex;Nucleoplasm;Nucleus envelope;Nucleus NA Involved in the nuclear export of mRNA species bearing retroviral constitutive transport elements (CTE) and in the export of mRNA from the nucleus to the cytoplasm (TAP/NFX1 pathway) (PubMed:10924507). The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5 components of the TREX complex (PubMed:18364396, PubMed:19165146, PubMed:9660949). ALYREF/THOC4-bound mRNA is thought to be transferred to the NXF1-NXT1 heterodimer for export (PubMed:18364396, PubMed:19165146, PubMed:9660949). Also involved in nuclear export of m6A-containing mRNAs: interaction between SRSF3 and YTHDC1 facilitates m6A-containing mRNA-binding to both SRSF3 and NXF1, promoting mRNA nuclear export (PubMed:28984244). NA Belongs to the NXF family. Ribosome biogenesis in eukaryotes;RNA transport;mRNA surveillance pathway;Influenza A;Herpes simplex infection;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript PE1 11 +NX_Q9UBV2 Protein sel-1 homolog 1 794 88755 5.23 1 Endoplasmic reticulum membrane NA Plays a role in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:16186509). Enhances SYVN1 stability. Plays a role in LPL maturation and secretion. Required for normal differentiation of the pancreas epithelium, and for normal exocrine function and survival of pancreatic cells. May play a role in Notch signaling. N-glycosylated. Belongs to the sel-1 family. Protein processing in endoplasmic reticulum;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Pre-NOTCH Processing in Golgi;ER Quality Control Compartment (ERQC);ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis PE1 14 +NX_Q9UBV4 Protein Wnt-16 365 40690 8.97 0 Extracellular matrix NA Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity). Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Belongs to the Wnt family. WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors) PE1 7 +NX_Q9UBV7 Beta-1,4-galactosyltransferase 7 327 37406 9.18 1 Golgi stack membrane Ehlers-Danlos syndrome, spondylodysplastic type, 1 Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts. NA Belongs to the glycosyltransferase 7 family. Protein modification; protein glycosylation.;Glycosaminoglycan biosynthesis - chondroitin sulfate;Glycosaminoglycan biosynthesis - heparan sulfate;Metabolic pathways;A tetrasaccharide linker sequence is required for GAG synthesis;Defective B4GALT7 causes EDS, progeroid type PE1 5 +NX_Q9UBV8 Peflin 284 30381 6.1 0 Cytoplasm;Membrane;Endoplasmic reticulum;COPII-coated vesicle membrane;Nucleoplasm;Cytoplasmic vesicle;Cytosol NA Calcium-binding protein that acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium. Together with PDCD6, acts as calcium-dependent adapter for the BCR(KLHL12) complex, a complex involved in endoplasmic reticulum (ER)-Golgi transport by regulating the size of COPII coats (PubMed:27716508). In response to cytosolic calcium increase, the heterodimer formed with PDCD6 interacts with, and bridges together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is required for neural crest specification (PubMed:27716508). Its role in the heterodimer formed with PDCD6 is however unclear: some evidence shows that PEF1 and PDCD6 work together and promote association between PDCD6 and SEC31 in presence of calcium (PubMed:27716508). Other reports show that PEF1 dissociates from PDCD6 in presence of calcium, and may act as a negative regulator of PDCD6 (PubMed:11278427). Also acts as a negative regulator of ER-Golgi transport; possibly by inhibiting interaction between PDCD6 and SEC31 (By similarity). Ubiquitinated by the BCR(KLHL12) E3 ubiquitin ligase complex. NA NA PE1 1 +NX_Q9UBW5 Bridging integrator 2 565 61874 5.11 0 Cytoplasm;Cell cortex;Cell membrane;Podosome membrane;Phagocytic cup NA Promotes cell motility and migration, probably via its interaction with the cell membrane and with podosome proteins that mediate interaction with the cytoskeleton. Modulates membrane curvature and mediates membrane tubulation. Plays a role in podosome formation. Inhibits phagocytosis. NA NA Neutrophil degranulation PE1 12 +NX_Q9UBW7 Zinc finger MYM-type protein 2 1377 154911 5.95 0 Endoplasmic reticulum;Nucleoplasm;Nucleus NA May function as a transcription factor. NA NA Signaling by FGFR1 in disease;Signaling by cytosolic FGFR1 fusion mutants PE1 13 +NX_Q9UBW8 COP9 signalosome complex subunit 7a 275 30277 8.33 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, JUN, I-kappa-B-alpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Phosphorylated by CK2 and PKD kinases. Belongs to the CSN7/EIF3M family. CSN7 subfamily. Formation of TC-NER Pre-Incision Complex;DNA Damage Recognition in GG-NER;Cargo recognition for clathrin-mediated endocytosis;Neddylation PE1 12 +NX_Q9UBX0 Homeobox expressed in ES cells 1 185 21409 9.01 0 Nucleoplasm;Nucleus Septooptic dysplasia;Pituitary hormone deficiency, combined, 5;Growth hormone deficiency with pituitary anomalies Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation. NA Belongs to the ANF homeobox family. NA PE1 3 +NX_Q9UBX1 Cathepsin F 484 53366 8.52 0 Cytoplasmic vesicle;Cytosol;Cell membrane;Lysosome Ceroid lipofuscinosis, neuronal, 13 Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis. NA Belongs to the peptidase C1 family. Lysosome;MHC class II antigen presentation PE1 11 +NX_Q9UBX2 Double homeobox protein 4 424 44940 8.72 0 Nucleus Facioscapulohumeral muscular dystrophy 1 Transcription factor that is selectively and transiently expressed in cleavage-stage embryos (PubMed:28459457). Binds to double-stranded DNA elements with the consensus sequence 5'-TAATCTAATCA-3' (PubMed:28459457, PubMed:28459454, PubMed:29572508, PubMed:30540931, PubMed:30315230). Binds to chromatin containing histone H3 acetylated at 'Lys-27' (H3K27ac) and promotes deacetylation of H3K27ac. In parallel, binds to chromatin that lacks histone H3 acetylation at 'Lys-27' (H3K27ac) and recruits EP300 and CREBBP to promote acetylation of histone H3 at 'Lys-27' at new sites (PubMed:26951377). Involved in transcriptional regulation of numerous genes, primarily as transcriptional activator, but mediates also repression of a set of target genes (PubMed:17984056, PubMed:27378237, PubMed:26951377, PubMed:28459457, PubMed:28459454, PubMed:29618456, PubMed:30540931, PubMed:29572508). Promotes expression of ZSCAN4 and KDM4E, two proteins with essential roles during early embryogenesis (PubMed:27378237, PubMed:26951377, PubMed:28459457, PubMed:29618456). Heterologous expression in cultured embryonic stem cells mediates also transcription of HERVL retrotransposons and transcripts derived from ACRO1 and HSATII satellite repeats (PubMed:28459457). May activate expression of PITX1 (PubMed:17984056). May regulate microRNA (miRNA) expression (PubMed:24145033). Inappropriate expression can inhibit myogenesis and promote apoptosis (PubMed:26951377, PubMed:28935672, PubMed:29618456).;Probably inactive as a transcriptional activator, due to the absence of the C-terminal region that is important for transcriptional activation. Can inhibit transcriptional activation mediated by isoform 1. Heterologous expression of isoform 2 has no deleterious effect on cell survival. NA Belongs to the paired homeobox family. NA PE1 4 +NX_Q9UBX3 Mitochondrial dicarboxylate carrier 287 31282 9.62 6 Nucleoplasm;Mitochondrion inner membrane;Mitochondrion NA Involved in translocation of malonate, malate and succinate in exchange for phosphate, sulfate, sulfite or thiosulfate across mitochondrial inner membrane. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Proximal tubule bicarbonate reclamation;Gluconeogenesis;Sulfide oxidation to sulfate;Organic anion transporters PE1 17 +NX_Q9UBX5 Fibulin-5 448 50180 4.58 0 Extracellular matrix;Secreted;Cell membrane Cutis laxa, autosomal recessive, 1A;Neuropathy, hereditary, with or without age-related macular degeneration;Macular degeneration, age-related, 3;Cutis laxa, autosomal dominant, 2 Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). Stabilizes and organizes elastic fibers in the skin, lung and vasculature (By similarity). Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling (PubMed:10428823). May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108). N-glycosylated. Belongs to the fibulin family. Molecules associated with elastic fibres;Elastic fibre formation PE1 14 +NX_Q9UBX7 Kallikrein-11 282 31059 9.23 0 Golgi apparatus;Secreted NA Possible multifunctional protease. Efficiently cleaves 'bz-Phe-Arg-4-methylcoumaryl-7-amide', a kallikrein substrate, and weakly cleaves other substrates for kallikrein and trypsin. Cleaves synthetic peptides after arginine but not lysine residues. About 40% of KLK11 is inactivated by internal cleavage after Arg-188. This proteolytic inactivation may be effected by plasminogen. Belongs to the peptidase S1 family. Kallikrein subfamily. NA PE1 19 +NX_Q9UBX8 Beta-1,4-galactosyltransferase 6 382 44914 8.59 1 Golgi stack membrane NA Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer) (PubMed:3099851, PubMed:1551920, PubMed:24498430). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal maturation and axonal and myelin formation (By similarity). NA Belongs to the glycosyltransferase 7 family. Protein modification; protein glycosylation.;Sphingolipid metabolism.;Sphingolipid metabolism;Metabolic pathways;O-linked glycosylation of mucins;Keratan sulfate biosynthesis;N-Glycan antennae elongation PE1 18 +NX_Q9UBY0 Sodium/hydrogen exchanger 2 812 91520 9.2 10 Membrane;Cell junction NA Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Seems to play an important role in colonic sodium absorption. Phosphorylated (Possible). Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. Sodium/Proton exchangers PE1 2 +NX_Q9UBY5 Lysophosphatidic acid receptor 3 353 40128 9.53 7 Cell membrane NA Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. May play a role in the development of ovarian cancer. Seems to be coupled to the G(i)/G(o) and G(q) families of heteromeric G proteins. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;G alpha (q) signalling events;Lysosphingolipid and LPA receptors PE1 1 +NX_Q9UBY8 Protein CLN8 286 32787 8.47 5 Endoplasmic reticulum;Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane Ceroid lipofuscinosis, neuronal, 8;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. Does not seem to be N-glycosylated. NA NA PE1 8 +NX_Q9UBY9 Heat shock protein beta-7 170 18611 6.04 0 Cajal body;Nucleoplasm;Cytoplasm;Nucleus NA NA NA Belongs to the small heat shock protein (HSP20) family. NA PE1 1 +NX_Q9UBZ4 DNA-(apurinic or apyrimidinic site) lyase 2 518 57401 8.65 0 Cytoplasm;Mitochondrion;Nucleolus;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA Function as a weak apurinic/apyrimidinic (AP) endodeoxyribonuclease in the DNA base excision repair (BER) pathway of DNA lesions induced by oxidative and alkylating agents. Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break with 5'-deoxyribose phosphate and 3'-hydroxyl ends. Displays also double-stranded DNA 3'-5' exonuclease, 3'-phosphodiesterase activities. Shows robust 3'-5' exonuclease activity on 3'-recessed heteroduplex DNA and is able to remove mismatched nucleotides preferentially. Shows fairly strong 3'-phosphodiesterase activity involved in the removal of 3'-damaged termini formed in DNA by oxidative agents. In the nucleus functions in the PCNA-dependent BER pathway. Required for somatic hypermutation (SHM) and DNA cleavage step of class switch recombination (CSR) of immunoglobulin genes. Required for proper cell cycle progression during proliferation of peripheral lymphocytes. NA Belongs to the DNA repair enzymes AP/ExoA family. Base excision repair PE1 X +NX_Q9UBZ9 DNA repair protein REV1 1251 138248 8.76 0 Cytosol;Nucleus NA Deoxycytidyl transferase involved in DNA repair. Transfers a dCMP residue from dCTP to the 3'-end of a DNA primer in a template-dependent reaction. May assist in the first step in the bypass of abasic lesions by the insertion of a nucleotide opposite the lesion. Required for normal induction of mutations by physical and chemical agents. NA Belongs to the DNA polymerase type-Y family. Fanconi anemia pathway;Translesion synthesis by POLI;Termination of translesion DNA synthesis;Translesion synthesis by REV1;Translesion synthesis by POLK PE1 2 +NX_Q9UC06 Zinc finger protein 70 446 50802 8.68 0 Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 22 +NX_Q9UC07 Zinc finger protein 69 566 65761 9.13 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q9UD57 NK1 transcription factor-related protein 2 310 32381 9.7 0 Nucleus NA May function in cell specification, particularly in the CNS. NA Belongs to the NK-1 homeobox family. NA PE1 10 +NX_Q9UD71 Protein phosphatase 1 regulatory subunit 1B 204 22963 4.48 0 Cytoplasm NA Inhibitor of protein-phosphatase 1. Dopamine- and cyclic AMP-regulated neuronal phosphoprotein.;Phosphorylation of Thr-34 is required for activity. Belongs to the protein phosphatase inhibitor 1 family. Dopaminergic synapse;DARPP-32 events PE1 17 +NX_Q9UDR5 Alpha-aminoadipic semialdehyde synthase, mitochondrial 926 102132 6.18 0 Cytoplasmic vesicle;Mitochondrion 2,4-dienoyl-CoA reductase deficiency;Hyperlysinemia, 1 Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively. NA In the N-terminal section; belongs to the AlaDH/PNT family.;In the C-terminal section; belongs to the saccharopine dehydrogenase family. Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 1/6.;Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 2/6.;Lysine biosynthesis;Lysine degradation;Metabolic pathways;Lysine catabolism PE1 7 +NX_Q9UDT6 CAP-Gly domain-containing linker protein 2 1046 115837 6.29 0 Cytoplasm;Cytoskeleton NA Seems to link microtubules to dendritic lamellar body (DLB), a membranous organelle predominantly present in bulbous dendritic appendages of neurons linked by dendrodendritic gap junctions. May operate in the control of brain-specific organelle translocations (By similarity). NA NA NA PE1 7 +NX_Q9UDV6 Zinc finger protein 212 495 55447 6.97 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_Q9UDV7 Zinc finger protein 282 671 74295 5.62 0 Nucleoplasm;Cytosol;Nucleus NA Binds to the U5 repressive element (U5RE) of the human T cell leukemia virus type I long terminal repeat. It recognizes the 5'-TCCACCCC-3' sequence as a core motif and exerts a strong repressive effect on HTLV-I LTR-mediated expression. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_Q9UDW1 Cytochrome b-c1 complex subunit 9 63 7308 9.45 0 Mitochondrion inner membrane NA This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This subunit interacts with cytochrome c1 (By similarity). NA Belongs to the UQCR10/QCR9 family. Oxidative phosphorylation;Metabolic pathways;Cardiac muscle contraction;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport PE1 22 +NX_Q9UDW3 Zinc finger matrin-type protein 5 170 19971 8.85 0 Nucleoplasm;Nucleus NA NA NA NA mRNA Splicing - Minor Pathway PE1 22 +NX_Q9UDX3 SEC14-like protein 4 406 46644 6.16 0 Centrosome NA Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids. NA NA NA PE1 22 +NX_Q9UDX4 SEC14-like protein 3 400 46048 5.79 0 NA NA Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids. NA NA NA PE1 22 +NX_Q9UDX5 Mitochondrial fission process protein 1 166 18010 9.33 3 Mitochondrion inner membrane;Mitochondrion NA Involved in the mitochondrial division probably by regulating membrane fission. Loss-of-function induces the release of cytochrome c, which activates the caspase cascade and leads to apoptosis. NA Belongs to the MTFP1 family. NA PE1 22 +NX_Q9UDY2 Tight junction protein ZO-2 1190 133958 6.96 0 Cell membrane;Cell junction;Adherens junction;Nucleoplasm;Tight junction;Nucleus Familial hypercholanemia;Cholestasis, progressive familial intrahepatic, 4 Plays a role in tight junctions and adherens junctions. NA Belongs to the MAGUK family. Tight junction;Vibrio cholerae infection;Signaling by Hippo;Apoptotic cleavage of cell adhesion proteins PE1 9 +NX_Q9UDY4 DnaJ homolog subfamily B member 4 337 37807 8.65 0 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA Probable chaperone. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro) (PubMed:24318877). NA NA NA PE1 1 +NX_Q9UDY6 Tripartite motif-containing protein 10 481 55037 5.69 0 Cytoplasm NA Seems to play an important role in erythropoiesis. NA Belongs to the TRIM/RBCC family. Interferon gamma signaling PE1 6 +NX_Q9UDY8 Mucosa-associated lymphoid tissue lymphoma translocation protein 1 824 92272 5.47 0 Nucleus;Perinuclear region;Nucleolus;Cytosol Immunodeficiency 12 Enhances BCL10-induced activation of NF-kappa-B. Involved in nuclear export of BCL10. Binds to TRAF6, inducing TRAF6 oligomerization and activation of its ligase activity. Has ubiquitin ligase activity. MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion. Involved in the induction of T helper 17 cells (Th17) differentiation. Cleaves RC3H1 and ZC3H12A in response to T-cell receptor (TCR) stimulation which releases their cooperatively repressed targets to promote Th17 cell differentiation (By similarity). NA Belongs to the peptidase C14B family. T cell receptor signaling pathway;B cell receptor signaling pathway;Tuberculosis;Activation of NF-kappaB in B cells;FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;Downstream TCR signaling;CLEC7A/inflammasome pathway PE1 18 +NX_Q9UEE5 Serine/threonine-protein kinase 17A 414 46558 5.08 0 Nucleus speckle;Nucleus;Cell membrane NA Acts as a positive regulator of apoptosis. Also acts as a regulator of cellular reactive oxygen species. Autophosphorylated.;Autophosphorylated Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. DAP kinase subfamily. NA PE1 7 +NX_Q9UEE9 Craniofacial development protein 1 299 33593 4.77 0 Cytoplasmic vesicle;Nucleoplasm;Kinetochore NA May play a role during embryogenesis. Phosphorylated by CK2 (casein kinase II) in vitro. NA NA PE1 16 +NX_Q9UEF7 Klotho 1012 116181 8.06 1 Apical cell membrane;Secreted;Cell membrane Tumoral calcinosis, hyperphosphatemic, familial, 3 The Klotho peptide generated by cleavage of the membrane-bound isoform may be an anti-aging circulating hormone which would extend life span by inhibiting insulin/IGF1 signaling.;May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D (By similarity). Essential factor for the specific interaction between FGF23 and FGFR1 (By similarity). N-glycosylated. Belongs to the glycosyl hydrolase 1 family. Klotho subfamily. Pentose and glucuronate interconversions;Starch and sucrose metabolism;Metabolic pathways;Endocrine and other factor-regulated calcium reabsorption;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;FGFR1c and Klotho ligand binding and activation;Constitutive Signaling by Aberrant PI3K in Cancer;Phospholipase C-mediated cascade: FGFR1;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;FRS-mediated FGFR1 signaling;Negative regulation of FGFR1 signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Downstream signaling of activated FGFR1 PE1 13 +NX_Q9UEG4 Zinc finger protein 629 869 96620 8.24 0 Golgi apparatus;Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 16 +NX_Q9UER7 Death domain-associated protein 6 740 81373 4.8 0 Cytoplasm;Nucleolus;Nucleoplasm;Centromere;PML body;Nucleus NA Transcription corepressor known to repress transcriptional potential of several sumoylated transcription factors. Down-regulates basal and activated transcription. Its transcription repressor activity is modulated by recruiting it to subnuclear compartments like the nucleolus or PML/POD/ND10 nuclear bodies through interactions with MCSR1 and PML, respectively. Seems to regulate transcription in PML/POD/ND10 nuclear bodies together with PML and may influence TNFRSF6-dependent apoptosis thereby. Inhibits transcriptional activation of PAX3 and ETS1 through direct protein-protein interactions. Modulates PAX5 activity; the function seems to involve CREBBP. Acts as an adapter protein in a MDM2-DAXX-USP7 complex by regulating the RING-finger E3 ligase MDM2 ubiquitination activity. Under non-stress condition, in association with the deubiquitinating USP7, prevents MDM2 self-ubiquitination and enhances the intrinsic E3 ligase activity of MDM2 towards TP53, thereby promoting TP53 ubiquitination and subsequent proteasomal degradation. Upon DNA damage, its association with MDM2 and USP7 is disrupted, resulting in increased MDM2 autoubiquitination and consequently, MDM2 degradation, which leads to TP53 stabilization. Acts as histone chaperone that facilitates deposition of histone H3.3. Acts as targeting component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Does not affect the ATPase activity of ATRX but alleviates its transcription repression activity. Upon neuronal activation associates with regulatory elements of selected immediate early genes where it promotes deposition of histone H3.3 which may be linked to transcriptional induction of these genes. Required for the recruitment of histone H3.3:H4 dimers to PML-nuclear bodies (PML-NBs); the process is independent of ATRX and facilitated by ASF1A; PML-NBs are suggested to function as regulatory sites for the incorporation of newly synthesized histone H3.3 into chromatin. In case of overexpression of centromeric histone variant CENPA (as found in various tumors) is involved in its mislocalization to chromosomes; the ectopic localization involves a heterotypic tetramer containing CENPA, and histones H3.3 and H4 and decreases binding of CTCF to chromatin. Proposed to mediate activation of the JNK pathway and apoptosis via MAP3K5 in response to signaling from TNFRSF6 and TGFBR2. Interaction with HSPB1/HSP27 may prevent interaction with TNFRSF6 and MAP3K5 and block DAXX-mediated apoptosis. In contrast, in lymphoid cells JNC activation and TNFRSF6-mediated apoptosis may not involve DAXX. Shows restriction activity towards human cytomegalovirus (HCMV). Plays a role as a positive regulator of the heat shock transcription factor HSF1 activity during the stress protein response (PubMed:15016915). Sumoylated with SUMO1 on multiple lysine residues.;Phosphorylated by HIPK1 upon glucose deprivation.;Polyubiquitinated; which is promoted by CUL3 and SPOP and results in proteasomal degradation. Ubiquitinated by MDM2; inducing its degradation. Deubiquitinated by USP7; leading to stabilize it.;DAXX is phosphorylated by HIPK3 Belongs to the DAXX family. MAPK signaling pathway;Amyotrophic lateral sclerosis (ALS);Herpes simplex infection;Regulation of TP53 Degradation;SUMOylation of transcription cofactors PE1 6 +NX_Q9UET6 Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase 329 36079 5.42 0 Cytoplasm;Cytosol Mental retardation, X-linked 44 Methylates the 2'-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family. TRM7 subfamily. tRNA modification in the nucleus and cytosol PE1 X +NX_Q9UEU0 Vesicle transport through interaction with t-SNAREs homolog 1B 232 26688 9.02 1 Golgi apparatus;Lysosome membrane;Recycling endosome membrane;Early endosome membrane;Cytoplasmic vesicle;Cytoplasmic granule;Late endosome membrane NA V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. May be concerned with increased secretion of cytokines associated with cellular senescence. NA Belongs to the VTI1 family. SNARE interactions in vesicular transport;Platelet degranulation PE1 14 +NX_Q9UEU5 G antigen 2D 116 12764 4.23 0 NA NA NA NA Belongs to the GAGE family. NA PE1 X +NX_Q9UEW3 Macrophage receptor MARCO 520 52658 8.95 1 Golgi apparatus;Cytoplasmic vesicle;Cell membrane NA Pattern recognition receptor (PRR) which binds Gram-positive and Gram-negative bacteria (PubMed:9468508). Also plays a role in binding of unopsonized particles by alveolar macrophages (By similarity). Binds to the secretoglobin SCGB3A2 (PubMed:12847263). N-glycosylated. NA Phagosome;Scavenging by Class A Receptors PE1 2 +NX_Q9UEW8 STE20/SPS1-related proline-alanine-rich protein kinase 545 59474 5.92 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA May act as a mediator of stress-activated signals. Mediates the inhibition of SLC4A4, SLC26A6 as well as CFTR activities by the WNK scaffolds, probably through phosphorylation. Phosphorylates RELT. Phosphorylated at Ser-309 by PRKCQ (PubMed:14988727). Autophosphorylation at Thr-231 positively regulates its activity (By similarity). Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. NA PE1 2 +NX_Q9UEY8 Gamma-adducin 706 79155 5.92 0 Cell membrane;Cytoskeleton Cerebral palsy, spastic quadriplegic 3 Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Plays a role in actin filament capping (PubMed:23836506). Binds to calmodulin. Sumoylated. Belongs to the aldolase class II family. Adducin subfamily. Miscellaneous transport and binding events PE1 10 +NX_Q9UF02 Voltage-dependent calcium channel gamma-5 subunit 275 30903 6.94 4 Membrane;Postsynaptic density NA Regulates the gating properties of AMPA-selective glutamate receptors (AMPARs). Modulates their gating properties by accelerating their rates of activation, deactivation and desensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity for GRIA1, GRIA4 and the long isoform of GRIA2. Thought to stabilize the calcium channel in an inactivated (closed) state (By similarity). NA Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. MAPK signaling pathway;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE2 17 +NX_Q9UF11 Pleckstrin homology domain-containing family B member 1 243 27186 7 0 Membrane;Cytoplasm NA NA NA NA NA PE1 11 +NX_Q9UF12 Hydroxyproline dehydrogenase 536 58871 8.94 0 Nucleoplasm;Cytosol NA Dehydrogenase that converts trans-4-L-hydroxyproline to delta-1-pyrroline-3-hydroxy-5-carboxylate (Hyp) using ubiquinone-10 as the terminal electron acceptor. Can also use proline as a substrate but with a very much lower efficiency. Does not react with other diastereomers of Hyp: trans-4-D-hydroxyproline and cis-4-L-hydroxyproline. Ubiquininone analogs such as menadione, duroquinone and ubiquinone-1 react more efficiently than oxygen as the terminal electron acceptor during catalysis. NA Belongs to the proline oxidase family. Arginine and proline metabolism;Metabolic pathways;Glyoxylate metabolism and glycine degradation;Proline catabolism PE1 19 +NX_Q9UF33 Ephrin type-A receptor 6 1036 116379 6.55 1 Membrane;Nucleoplasm NA Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling (By similarity). NA Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. Axon guidance;EPH-Ephrin signaling;EPH-ephrin mediated repulsion of cells;EPHA-mediated growth cone collapse PE1 3 +NX_Q9UF47 DnaJ homolog subfamily C member 5B 199 22496 5.16 0 Membrane NA NA Palmitoylated. Palmitoylation is not required for membrane association. NA Protein processing in endoplasmic reticulum PE1 8 +NX_Q9UF56 F-box/LRR-repeat protein 17 701 75695 8.49 0 Nucleoplasm;Cytoplasm;Nucleus NA Substrate-recognition component of the SCF(FBXL17) E3 ubiquitin ligase complex, a key component of a quality control pathway required to ensure functional dimerization of BTB domain-containing proteins (dimerization quality control, DQC) (PubMed:30190310). FBXL17 specifically recognizes and binds a conserved degron of non-consecutive residues present at the interface of BTB dimers of aberrant composition: aberrant BTB dimer are then ubiquitinated by the SCF(FBXL17) complex and degraded by the proteaseome (PubMed:30190310). The ability of the SCF(FBXL17) complex to eliminate compromised BTB dimers is required for the differentiation and survival of neural crest and neuronal cells (By similarity). The SCF(FBXL17) complex mediates ubiquitination and degradation of BACH1 (PubMed:24035498, PubMed:30190310). The SCF(FBXL17) complex is also involved in the regulation of the hedgehog/smoothened (Hh) signaling pathway by mediating the ubiquitination and degradation of SUFU, allowing the release of GLI1 from SUFU for proper Hh signal transduction (PubMed:27234298). The SCF(FBXL17) complex mediates ubiquitination and degradation of PRMT1 (By similarity). NA Belongs to the FBXL17 family. NA PE1 5 +NX_Q9UF83 Uncharacterized protein DKFZp434B061 564 59412 13.06 0 NA NA NA NA NA NA PE1 13 +NX_Q9UFB7 Zinc finger and BTB domain-containing protein 47 747 82760 5.52 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 3 +NX_Q9UFC0 Leucine-rich repeat and WD repeat-containing protein 1 647 70861 6.88 0 Nucleolus;Nucleoplasm;Centromere;Centrosome;Telomere;Cytoplasmic vesicle;Nucleus;Kinetochore NA Required for G1/S transition. Recruits and stabilizes the origin recognition complex (ORC) onto chromatin during G1 to establish pre-replication complex (preRC) and to heterochromatic sites in post-replicated cells. Binds a combination of DNA and histone methylation repressive marks on heterochromatin. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3 in a cooperative manner with DNA methylation. Required for silencing of major satellite repeats. May be important ORC2, ORC3 and ORC4 stability. Ubiquitinated; undergoes 'Lys-48'-linked polyubiquitination leading to proteasomal degradation. Ubiquitination occurs within the WD repeats at the end of the G1 phase. Ubiquitination may be catalyzed by the CUL4-DDB1 E3 ubiquitin-protein ligase complex and other E3 ligases. Belongs to the LRWD1 family. NA PE1 7 +NX_Q9UFD9 RIMS-binding protein 3A 1639 180717 6.46 0 Cytoskeleton NA Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development. NA Belongs to the RIMBP family. NA PE1 22 +NX_Q9UFE4 Coiled-coil domain-containing protein 39 941 109901 6.1 0 Mitochondrion;Cilium axoneme Ciliary dyskinesia, primary, 14 Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131972). Probably acts together with CCDC40 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly (PubMed:21131972). NA Belongs to the CCDC39 family. NA PE1 3 +NX_Q9UFF9 CCR4-NOT transcription complex subunit 8 292 33540 4.69 0 Cytoplasm;Nucleus NA Has 3'-5' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate. Its function seems to be partially redundant with that of CNOT7. Catalytic component of the CCR4-NOT complex which is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. During miRNA-mediated repression the complex seems also to act as translational repressor during translational initiation. Additional complex functions may be a consequence of its influence on mRNA expression. Associates with members of the BTG family such as TOB1 and BTG2 and is required for their anti-proliferative activity. NA Belongs to the CAF1 family. RNA degradation;Deadenylation of mRNA;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 5 +NX_Q9UFG5 UPF0449 protein C19orf25 118 12878 5.03 0 Cytoskeleton NA NA NA Belongs to the UPF0449 family. NA PE1 19 +NX_Q9UFH2 Dynein heavy chain 17, axonemal 4462 509313 5.52 0 Nucleoplasm;Cytosol;Cilium axoneme;Cell membrane NA Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity). NA Belongs to the dynein heavy chain family. NA PE1 17 +NX_Q9UFN0 Protein NipSnap homolog 3A 247 28467 9.21 0 Cytosol NA NA NA Belongs to the NipSnap family. NA PE1 9 +NX_Q9UFP1 Golgi-associated kinase 1A 575 63637 7.1 0 Golgi apparatus;Secreted;Endoplasmic reticulum;Caveola;Cytoplasmic vesicle NA NA O-glycosylated with core 1 or possibly core 8 glycans.;Proteolytically cleaved. Cleaved at Arg-120 and Arg-437 leading to a processed mature product of 35 kDa. The cleavage takes place in the Golgi apparatus. Belongs to the GASK family. NA PE1 3 +NX_Q9UFV1 Putative TBC1 domain family member 29 150 16280 9.33 0 NA NA NA NA NA NA PE5 17 +NX_Q9UFV3 Putative uncharacterized protein DKFZp434L187 132 14889 10.08 0 NA NA NA NA NA NA PE5 15 +NX_Q9UFW8 CGG triplet repeat-binding protein 1 167 18820 9.14 0 Nucleoplasm;Nucleus NA Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats in the FMR1 promoter. May play a role in regulating FMR1 promoter. NA NA NA PE1 3 +NX_Q9UG01 Intraflagellar transport protein 172 homolog 1749 197576 5.78 0 Cytoplasmic vesicle;Cilium Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71 Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity). NA Belongs to the IFT172 family. Intraflagellar transport;Hedgehog 'off' state PE1 2 +NX_Q9UG22 GTPase IMAP family member 2 337 38017 8.6 0 Lipid droplet NA The heterodimer formed by GIMAP2 and GIMAP7 has GTPase activity. In contrast, GIMAP2 has no GTPase activity by itself. NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase family. IAN subfamily. NA PE1 7 +NX_Q9UG56 Phosphatidylserine decarboxylase proenzyme, mitochondrial 409 46672 9.51 1 Golgi apparatus;Cytosol;Mitochondrion inner membrane NA Catalyzes the formation of phosphatidylethanolamine (PtdEtn) from phosphatidylserine (PtdSer). Plays a central role in phospholipid metabolism and in the interorganelle trafficking of phosphatidylserine. Is synthesized initially as an inactive proenzyme. Formation of the active enzyme involves a self-maturation process in which the active site pyruvoyl group is generated from an internal serine residue via an autocatalytic post-translational modification. Two non-identical subunits are generated from the proenzyme in this reaction, and the pyruvate is formed at the N-terminus of the alpha chain, which is derived from the carboxyl end of the proenzyme. The autoendoproteolytic cleavage occurs by a canonical serine protease mechanism, in which the side chain hydroxyl group of the serine supplies its oxygen atom to form the C-terminus of the beta chain, while the remainder of the serine residue undergoes an oxidative deamination to produce ammonia and the pyruvoyl prosthetic group on the alpha chain. During this reaction, the Ser that is part of the protease active site of the proenzyme becomes the pyruvoyl prosthetic group, which constitutes an essential element of the active site of the mature decarboxylase. Belongs to the phosphatidylserine decarboxylase family. PSD-B subfamily. Eukaryotic type I sub-subfamily. Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PE PE1 22 +NX_Q9UG63 ATP-binding cassette sub-family F member 2 623 71290 6.95 0 Cytosol NA NA NA Belongs to the ABC transporter superfamily. ABCF family. EF3 subfamily. NA PE1 7 +NX_Q9UGB4 Putative uncharacterized protein C20orf187 50 5874 4.33 0 NA NA NA NA NA NA PE4 20 +NX_Q9UGB7 Inositol oxygenase 285 33010 5.5 0 Cytoplasm NA NA NA Belongs to the myo-inositol oxygenase family. Polyol metabolism; myo-inositol degradation into D-glucuronate; D-glucuronate from myo-inositol: step 1/1.;Ascorbate and aldarate metabolism;Inositol phosphate metabolism;Synthesis of IP2, IP, and Ins in the cytosol PE1 22 +NX_Q9UGC6 Regulator of G-protein signaling 17 210 24359 5.56 0 Cytoplasm;Synaptosome;Membrane;Cytoplasmic vesicle;Nucleus NA Regulates G protein-coupled receptor signaling cascades, including signaling via muscarinic acetylcholine receptor CHRM2 and dopamine receptor DRD2. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:15096504). Binds selectively to GNAZ and GNAI2 subunits, accelerates their GTPase activity and regulates their signaling activities. Negatively regulates mu-opioid receptor-mediated activation of the G-proteins (By similarity). N- and O-glycosylated in synapsomal membranes.;Serine phosphorylated in synapsomal membranes.;Sumoylated with SUMO1 and SUM02 in synaptosomes. The sumoylated forms act as a scaffold for sequestering mu-opioid receptor-activated G(alpha) subunits. NA G alpha (i) signalling events;G alpha (q) signalling events;G alpha (z) signalling events PE1 6 +NX_Q9UGC7 Peptide chain release factor 1-like, mitochondrial 380 43600 8.36 0 Mitochondrion NA Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain termination codons UAA and UAG. Methylation of glutamine in the GGQ triplet is conserved from bacteria to mammals. Belongs to the prokaryotic/mitochondrial release factor family. Mitochondrial translation termination PE1 6 +NX_Q9UGF5 Olfactory receptor 14J1 321 35892 8.9 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 6 +NX_Q9UGF6 Olfactory receptor 5V1 321 36057 8.79 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 6 +NX_Q9UGF7 Olfactory receptor 12D3 316 35791 8.86 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 6 +NX_Q9UGH3 Solute carrier family 23 member 2 650 70337 7.83 12 Golgi apparatus;Cytoplasmic vesicle;Cell membrane NA Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate. Phosphorylated. Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily. Vitamin C (ascorbate) metabolism PE1 20 +NX_Q9UGI0 Ubiquitin thioesterase ZRANB1 708 80967 5.48 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Specifically hydrolyzes 'Lys-29'-linked and 'Lys-33'-linked diubiquitin. Also cleaves 'Lys-63'-linked chains, but with 40-fold less efficiency compared to 'Lys-29'-linked ones. Positive regulator of the Wnt signaling pathway that deubiquitinates APC protein, a negative regulator of Wnt-mediated transcription. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the stress fiber dynamics and cell migration. May also modulate TNF-alpha signaling. NA Belongs to the peptidase C64 family. Ovarian tumor domain proteases PE1 10 +NX_Q9UGI6 Small conductance calcium-activated potassium channel protein 3 731 81385 9.12 6 Membrane;Nucleoplasm NA Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin. NA Belongs to the potassium channel KCNN family. KCa2.3/KCNN3 subfamily. Ca2+ activated K+ channels PE1 1 +NX_Q9UGI8 Testin 421 47996 7.96 0 Cytoplasm;Cell membrane;Cell junction;Focal adhesion;Cytosol NA Scaffold protein that may play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Plays a role in the regulation of cell proliferation. May act as a tumor suppressor. Inhibits tumor cell growth. NA Belongs to the prickle / espinas / testin family. NA PE1 7 +NX_Q9UGI9 5'-AMP-activated protein kinase subunit gamma-3 489 54258 5.59 0 NA NA AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive. Phosphorylated by ULK1; leading to negatively regulate AMPK activity and suggesting the existence of a regulatory feedback loop between ULK1 and AMPK. Belongs to the 5'-AMP-activated protein kinase gamma subunit family. Insulin signaling pathway;Adipocytokine signaling pathway;Hypertrophic cardiomyopathy (HCM);Macroautophagy;Translocation of SLC2A4 (GLUT4) to the plasma membrane;TP53 Regulates Metabolic Genes;Activation of PPARGC1A (PGC-1alpha) by phosphorylation;Energy dependent regulation of mTOR by LKB1-AMPK;Regulation of TP53 Activity through Phosphorylation;Activation of AMPK downstream of NMDARs;Lipophagy PE1 2 +NX_Q9UGJ0 5'-AMP-activated protein kinase subunit gamma-2 569 63066 9.37 0 Nucleoplasm Wolff-Parkinson-White syndrome;Glycogen storage disease of heart lethal congenital;Cardiomyopathy, familial hypertrophic 6 AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive. Phosphorylated by ULK1; leading to negatively regulate AMPK activity and suggesting the existence of a regulatory feedback loop between ULK1 and AMPK. Belongs to the 5'-AMP-activated protein kinase gamma subunit family. Insulin signaling pathway;Adipocytokine signaling pathway;Hypertrophic cardiomyopathy (HCM);Macroautophagy;Translocation of SLC2A4 (GLUT4) to the plasma membrane;TP53 Regulates Metabolic Genes;Activation of PPARGC1A (PGC-1alpha) by phosphorylation;Energy dependent regulation of mTOR by LKB1-AMPK;AMPK inhibits chREBP transcriptional activation activity;Import of palmitoyl-CoA into the mitochondrial matrix;Regulation of TP53 Activity through Phosphorylation;Activation of AMPK downstream of NMDARs;Lipophagy PE1 7 +NX_Q9UGJ1 Gamma-tubulin complex component 4 667 76089 6.17 0 Centrosome Microcephaly and chorioretinopathy, autosomal recessive, 3 Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome. NA Belongs to the TUBGCP family. Recruitment of mitotic centrosome proteins and complexes;Recruitment of NuMA to mitotic centrosomes PE1 15 +NX_Q9UGK3 Signal-transducing adaptor protein 2 403 44894 8.34 0 Cytoplasm NA Substrate of protein kinase PTK6. May play a regulatory role in the acute-phase response in systemic inflammation and may modulate STAT3 activity. Phosphorylated on tyrosine. Tyr-250 may be important for interaction with kinases. Phosphorylated by PTK6 at Tyr-250 modulates PTK6-mediated STAT3 activation. Tyr-22 and Tyr-322 appears to be phosphorylated by SRC. NA PTK6 Activates STAT3 PE1 19 +NX_Q9UGK8 Secretion-regulating guanine nucleotide exchange factor 458 48981 6.01 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Probable guanine nucleotide exchange factor (GEF), which may be involved in the secretion process. NA NA NA PE1 11 +NX_Q9UGL1 Lysine-specific demethylase 5B 1544 175658 6.29 0 Nucleoplasm;Cytosol;Nucleus Mental retardation, autosomal recessive 65 Histone demethylase that demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code (PubMed:24952722, PubMed:27214403, PubMed:28262558). Does not demethylate histone H3 'Lys-9' or H3 'Lys-27'. Demethylates trimethylated, dimethylated and monomethylated H3 'Lys-4'. Acts as a transcriptional corepressor for FOXG1B and PAX9. Favors the proliferation of breast cancer cells by repressing tumor suppressor genes such as BRCA1 and HOXA5 (PubMed:24952722). In contrast, may act as a tumor suppressor for melanoma. Represses the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity). NA Belongs to the JARID1 histone demethylase family. HDMs demethylate histones;TFAP2 (AP-2) family regulates transcription of cell cycle factors PE1 1 +NX_Q9UGL9 Cysteine-rich C-terminal protein 1 99 9736 9.13 0 NA NA NA NA NA NA PE1 1 +NX_Q9UGM1 Neuronal acetylcholine receptor subunit alpha-9 479 54807 6.04 4 Cell membrane;Postsynaptic cell membrane NA Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding induces a conformation change that leads to the opening of an ion-conducting channel across the plasma membrane (PubMed:11752216, PubMed:25282151). The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane (PubMed:11752216, PubMed:25282151). In the ear, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducing the range of dynamic hearing. This may protect against acoustic trauma. May also regulate keratinocyte adhesion (PubMed:11021840). N-glycosylated. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-9/CHRNA9 sub-subfamily. Neuroactive ligand-receptor interaction;Highly calcium permeable postsynaptic nicotinic acetylcholine receptors PE1 4 +NX_Q9UGM3 Deleted in malignant brain tumors 1 protein 2413 260735 5.18 0 Centriolar satellite;Secreted Glioma May be considered as a candidate tumor suppressor gene for brain, lung, esophageal, gastric, and colorectal cancers. May play roles in mucosal defense system, cellular immune defense and epithelial differentiation. May play a role as an opsonin receptor for SFTPD and SPAR in macrophage tissues throughout the body, including epithelial cells lining the gastrointestinal tract. May play a role in liver regeneration. May be an important factor in fate decision and differentiation of transit-amplifying ductular (oval) cells within the hepatic lineage. Required for terminal differentiation of columnar epithelial cells during early embryogenesis. May function as a binding protein in saliva for the regulation of taste sensation. Binds to HIV-1 envelope protein and has been shown to both inhibit and facilitate viral transmission. Displays a broad calcium-dependent binding spectrum against both Gram-positive and Gram-negative bacteria, suggesting a role in defense against bacterial pathogens. Binds to a range of poly-sulfated and poly-phosphorylated ligands which may explain its broad bacterial-binding specificity. Inhibits cytoinvasion of S.enterica. Associates with the actin cytoskeleton and is involved in its remodeling during regulated exocytosis. Interacts with pancreatic zymogens in a pH-dependent manner and may act as a Golgi cargo receptor in the regulated secretory pathway of the pancreatic acinar cell. Highly N- and O-glycosylated. The O-glycans are heavily sulfated (By similarity). Belongs to the DMBT1 family. Surfactant metabolism PE1 10 +NX_Q9UGM5 Fetuin-B 382 42055 6.46 0 Secreted NA Protease inhibitor required for egg fertilization. Required to prevent premature zona pellucida hardening before fertilization, probably by inhibiting the protease activity of ASTL, a protease that mediates the cleavage of ZP2 and triggers zona pellucida hardening (By similarity). NA Belongs to the fetuin family. NA PE1 3 +NX_Q9UGM6 Tryptophan--tRNA ligase, mitochondrial 360 40147 9.31 0 Mitochondrion matrix;Mitochondrion;Cell membrane Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures Mitochondrial aminoacyl-tRNA synthetase that activate and transfer the amino acids to their corresponding tRNAs during the translation of mitochondrial genes and protein synthesis. NA Belongs to the class-I aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation PE1 1 +NX_Q9UGN4 CMRF35-like molecule 8 299 33201 5.35 1 Cell membrane NA Inhibitory receptor which may contribute to the down-regulation of cytolytic activity in natural killer (NK) cells, and to the down-regulation of mast cell degranulation (PubMed:10746781, PubMed:16339535, PubMed:9701027). Negatively regulates the Toll-like receptor (TLR) signaling mediated by MYD88 but not TRIF through activation of PTPN6 (PubMed:22043923). N-glycosylated.;Phosphorylated on tyrosine. Belongs to the CD300 family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Neutrophil degranulation PE1 17 +NX_Q9UGN5 Poly [ADP-ribose] polymerase 2 583 66206 9.02 0 Nucleoplasm;Nucleus;Nucleolus NA Poly-ADP-ribosyltransferase that mediates poly-ADP-ribosylation of proteins and plays a key role in DNA repair (PubMed:10364231, PubMed:28190768, PubMed:25043379). Mainly mediates glutamate and aspartate ADP-ribosylation of target proteins: the ADP-D-ribosyl group of NAD(+) is transferred to the acceptor carboxyl group of glutamate and aspartate residues and further ADP-ribosyl groups are transferred to the 2'-position of the terminal adenosine moiety, building up a polymer with an average chain length of 20-30 units (PubMed:25043379). ADP-ribosylation follows DNA damage and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks (PubMed:10364231). Also mediates serine ADP-ribosylation of target proteins following interaction with HPF1; HPF1 conferring serine specificity (PubMed:28190768). In addition to proteins, also able to ADP-ribosylate DNA: preferentially acts on 5'-terminal phosphates at DNA strand breaks termini in nicked duplex (PubMed:27471034). Acetylation reduces DNA binding and enzymatic activity.;Poly-ADP-ribosylated by PARP1. NA Base excision repair;POLB-Dependent Long Patch Base Excision Repair;HDR through MMEJ (alt-NHEJ);DNA Damage Recognition in GG-NER;Dual Incision in GG-NER;Formation of Incision Complex in GG-NER PE1 14 +NX_Q9UGP4 LIM domain-containing protein 1 676 72190 6.2 0 Cytoplasm;Adherens junction;Focal adhesion;Nucleoplasm;P-body;Nucleus NA Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organization, repression of gene transcription, cell-cell adhesion, cell differentiation, proliferation and migration. Positively regulates microRNA (miRNA)-mediated gene silencing and is essential for P-body formation and integrity. Acts as a hypoxic regulator by bridging an association between the prolyl hydroxylases and VHL enabling efficient degradation of HIF1A. Acts as a transcriptional corepressor for SNAI1- and SNAI2/SLUG-dependent repression of E-cadherin transcription. Negatively regulates the Hippo signaling pathway and antagonizes phosphorylation of YAP1. Inhibits E2F-mediated transcription, and suppresses the expression of the majority of genes with E2F1-responsive elements. Regulates osteoblast development, function, differentiation and stress osteoclastogenesis. Enhances the ability of TRAF6 to activate adapter protein complex 1 (AP-1) and negatively regulates the canonical Wnt receptor signaling pathway in osteoblasts. May act as a tumor suppressor by inhibiting cell proliferation. Phosphorylated during mitosis. Belongs to the zyxin/ajuba family. Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha PE1 3 +NX_Q9UGP5 DNA polymerase lambda 575 63482 7.96 0 Golgi apparatus;Nucleoplasm;Nucleus NA DNA polymerase that functions in several pathways of DNA repair (PubMed:11457865, PubMed:19806195, PubMed:20693240). Involved in base excision repair (BER) responsible for repair of lesions that give rise to abasic (AP) sites in DNA (PubMed:11457865, PubMed:19806195). Also contributes to DNA double-strand break repair by non-homologous end joining and homologous recombination (PubMed:19806195, PubMed:20693240). Has both template-dependent and template-independent (terminal transferase) DNA polymerase activities (PubMed:10982892, PubMed:10887191, PubMed:12809503, PubMed:14627824, PubMed:15537631, PubMed:19806195). Has also a 5'-deoxyribose-5-phosphate lyase (dRP lyase) activity (PubMed:11457865, PubMed:19806195). NA Belongs to the DNA polymerase type-X family. Base excision repair;Non-homologous end-joining;Nonhomologous End-Joining (NHEJ) PE1 10 +NX_Q9UGP8 Translocation protein SEC63 homolog 760 87997 5.21 3 Endoplasmic reticulum;Endoplasmic reticulum membrane Polycystic liver disease 2 with or without kidney cysts Mediates cotranslational and post-translational transport of certain precursor polypeptides across endoplasmic reticulum (ER) (PubMed:22375059, PubMed:29719251). Proposed to play an auxiliary role in recognition of precursors with short and apolar signal peptides. May cooperate with SEC62 and HSPA5/BiP to facilitate targeting of small presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen (PubMed:29719251). Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity). NA NA Protein export;Protein processing in endoplasmic reticulum PE1 6 +NX_Q9UGQ2 Calcium channel flower homolog 172 18470 5.37 3 Membrane;Nucleoplasm NA NA NA Belongs to the calcium channel flower family. Presynaptic depolarization and calcium channel opening PE1 9 +NX_Q9UGQ3 Solute carrier family 2, facilitated glucose transporter member 6 507 54539 8.9 12 Lysosome membrane NA Probable sugar transporter that acts as a regulator of glycolysis in macrophages (Probable). Does not transport glucose (PubMed:30431159). NA Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. Cellular hexose transport PE1 9 +NX_Q9UGR2 Zinc finger CCCH domain-containing protein 7B 977 109858 6.94 0 Cytosol;Nucleus NA May be a specific regulator of miRNA biogenesis. Binds to microRNAs MIR7-1, MIR16-2 and MIR29A hairpins recognizing the 'ATA(A/T)' motif in the apical loop. NA NA NA PE1 22 +NX_Q9UGT4 Sushi domain-containing protein 2 822 90208 5.84 1 Cell membrane NA May be a cytokine receptor for C10ORF99. May be a tumor suppressor; together with C10ORF99 has a growth inhibitory effect on colon cancer cells which includes G1 cell cycle arrest (PubMed:25351403). May play a role in breast tumorigenesis (PubMed:23131994). NA NA NA PE1 22 +NX_Q9UGU0 Transcription factor 20 1960 211771 9.16 0 Nucleoplasm;Nucleus NA Transcriptional activator that binds to the regulatory region of MMP3 and thereby controls stromelysin expression. It stimulates the activity of various transcriptional activators such as JUN, SP1, PAX6 and ETS1, suggesting a function as a coactivator. NA NA NA PE1 22 +NX_Q9UGU5 HMG domain-containing protein 4 601 65712 9.35 0 Nucleus NA Negatively regulates Wnt/beta-catenin signaling during development. NA NA NA PE1 22 +NX_Q9UGV2 Protein NDRG3 375 41409 5.12 0 NA NA NA NA Belongs to the NDRG family. NA PE1 20 +NX_Q9UGY1 Nucleolar protein 12 213 24663 10.22 0 Nucleoplasm;Nucleolus;Cytoplasmic vesicle NA May bind to 28S rRNA. NA Belongs to the RRP17 family. Major pathway of rRNA processing in the nucleolus and cytosol PE1 22 +NX_Q9UH03 Neuronal-specific septin-3 358 40704 6.74 0 Cytoplasm;Cell membrane;Nucleoplasm;Synapse;Cytoskeleton NA Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). Phosphorylated by PKG on serine residues. Phosphorylated by PKG on Ser-91 (By similarity). Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. NA PE1 22 +NX_Q9UH17 DNA dC->dU-editing enzyme APOBEC-3B 382 45924 5.74 0 Nucleus NA DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single-or double-stranded RNA. Exhibits antiviral activity against simian immunodeficiency virus (SIV), hepatitis B virus (HBV) and human T-cell leukemia virus type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons. NA Belongs to the cytidine and deoxycytidylate deaminase family. mRNA Editing: C to U Conversion;Formation of the Editosome PE1 22 +NX_Q9UH36 SRR1-like protein 339 38573 5.31 0 Cytoplasm;Cytosol NA Plays a role in the regulation of heme biosynthesis and in the regulation of the expression of core clock genes. NA Belongs to the SRR1 family. NA PE1 22 +NX_Q9UH62 Armadillo repeat-containing X-linked protein 3 379 42501 8.6 1 Mitochondrion outer membrane;Cytoplasm;Golgi apparatus;Nucleoplasm;Cytosol;Nucleus NA Regulates mitochondrial aggregation and transport in axons in living neurons. May link mitochondria to the TRAK2-kinesin motor complex via its interaction with Miro and TRAK2. Mitochondrial distribution and dynamics is regulated through ARMCX3 protein degradation, which is promoted by PCK and negatively regulated by WNT1. Enhances the SOX10-mediated transactivation of the neuronal acetylcholine receptor subunit alpha-3 and beta-4 subunit gene promoters. NA Belongs to the eutherian X-chromosome-specific Armcx family. NA PE1 X +NX_Q9UH64 Putative protein CDKN2A-DT 79 8851 11.58 0 NA NA NA NA NA NA PE5 9 +NX_Q9UH65 Switch-associated protein 70 585 68998 5.66 0 Cytoplasm;Cell membrane;Lamellipodium;Nucleus;Cytoskeleton NA Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which, independently of RAS, transduces signals from tyrosine kinase receptors to RAC. It also mediates signaling of membrane ruffling. Regulates the actin cytoskeleton as an effector or adapter protein in response to agonist stimulated phosphatidylinositol (3,4)-bisphosphate production and cell protrusion (By similarity). Tyrosine-phosphorylated. NA NA PE1 11 +NX_Q9UH73 Transcription factor COE1 591 64464 9 0 Nucleus NA Transcriptional activator which recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'. NA Belongs to the COE family. Transcriptional regulation of white adipocyte differentiation PE1 5 +NX_Q9UH77 Kelch-like protein 3 587 64970 5.29 0 Cytosol;Cytoskeleton Pseudohypoaldosteronism 2D Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of ion transport in the distal nephron (PubMed:14528312, PubMed:22406640, PubMed:23387299, PubMed:23453970, PubMed:23576762, PubMed:23665031). The BCR(KLHL3) complex acts by mediating ubiquitination of WNK4, an inhibitor of potassium channel KCNJ1, leading to WNK4 degradation (PubMed:23387299, PubMed:23453970, PubMed:23576762, PubMed:23665031). The BCR(KLHL3) complex also mediates ubiquitination and degradation of CLDN8, a tight-junction protein required for paracellular chloride transport in the kidney (By similarity). Phosphorylation at Ser-433 by PKA decreases the interaction with WNK4, Leading to inhibit WNK4 degradation by the BCR(KLHL3) complex (PubMed:26435498, PubMed:27727489). Phosphorylation at Ser-433 is increased by insulin (PubMed:26435498). NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 5 +NX_Q9UH90 F-box only protein 40 709 79782 6.69 0 Cytoplasm NA Probable substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex that may function in myogenesis. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 3 +NX_Q9UH92 Max-like protein X 298 33300 8.18 0 Cytoplasm;Nucleus membrane;Nucleoplasm;Cytosol;Nucleus NA Transcription regulator. Forms a sequence-specific DNA-binding protein complex with MAD1, MAD4, MNT, WBSCR14 and MLXIP which recognizes the core sequence 5'-CACGTG-3'. The TCFL4-MAD1, TCFL4-MAD4, TCFL4-WBSCR14 complexes are transcriptional repressors. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation. NA NA ChREBP activates metabolic gene expression PE1 17 +NX_Q9UH99 SUN domain-containing protein 2 717 80311 6.27 1 Nucleus inner membrane;Nucleus envelope;Nucleus membrane;Endosome membrane NA As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow during actin-dependent nuclear movement. Required for interkinetic nuclear migration (INM) and essential for nucleokinesis and centrosome-nucleus coupling during radial neuronal migration in the cerebral cortex and during glial migration. Required for nuclear migration in retinal photoreceptor progenitors implicating association with cytoplasmic dynein-dynactin and kinesin motor complexes, and probably B-type lamins; SUN1 and SUN2 seem to act redundantly. The SUN1/2:KASH5 LINC complex couples telomeres to microtubules during meiosis; SUN1 and SUN2 seem to act at least partial redundantly. Anchors chromosome movement in the prophase of meiosis and is involved in selective gene expression of coding and non-coding RNAs needed for gametogenesis. Required for telomere attachment to nuclear envelope and gametogenesis. May also function on endocytic vesicles as a receptor for RAB5-GDP and participate in the activation of RAB5. The disulfid bond with SYNE2 is required for stability of the SUN2:SYNE2/KASH2 LINC complex under tensile forces though not required for the interaction. The disulfid bond is proposed to be conserved in LINC complexes involved in force transmission. NA Meiotic synapsis PE1 22 +NX_Q9UHA2 SS18-like protein 2 77 8835 5.62 0 Nucleoplasm;Mitochondrion;Nucleolus NA NA NA Belongs to the SS18 family. NA PE1 3 +NX_Q9UHA3 Probable ribosome biogenesis protein RLP24 163 19621 9.99 0 Nucleoplasm;Nucleolus NA Involved in the biogenesis of the 60S ribosomal subunit. Ensures the docking of GTPBP4/NOG1 to pre-60S particles (By similarity). NA Belongs to the eukaryotic ribosomal protein eL24 family. Ribosome PE1 15 +NX_Q9UHA4 Ragulator complex protein LAMTOR3 124 13623 6.72 0 Late endosome membrane NA As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. Adapter protein that enhances the efficiency of the MAP kinase cascade facilitating the activation of MAPK2. NA Belongs to the LAMTOR3 family. MAPK signaling pathway;Macroautophagy;MAP2K and MAPK activation;TP53 Regulates Metabolic Genes;Energy dependent regulation of mTOR by LKB1-AMPK;mTOR signalling;mTORC1-mediated signalling;Neutrophil degranulation;Regulation of PTEN gene transcription PE1 4 +NX_Q9UHA7 Interleukin-36 alpha 158 17684 5.89 0 Secreted NA Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells linked to a pro-inflammatory response. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor IL1RAP. Seems to be involved in skin inflammatory response by acting on keratinocytes, dendritic cells and indirectly on T-cells to drive tissue infiltration, cell maturation and cell proliferation. In cultured keratinocytes induces the expression of macrophage, T-cell, and neutrophil chemokines, such as CCL3, CCL4, CCL5, CCL2, CCL17, CCL22, CL20, CCL5, CCL2, CCL17, CCL22, CXCL8, CCL20 and CXCL1, and the production of proinflammatory cytokines such as TNF-alpha, IL-8 and IL-6. In cultured monocytes upregulates expression of IL-1A, IL-1B and IL-6. In myeloid dendritic cells involved in cell maturation by upregulating surface expression of CD83, CD86 and HLA-DR. In monocyte-derived dendritic cells facilitates dendritic cell maturation and drives T-cell proliferation. May play a role in proinflammatory effects in the lung. N-terminal truncation leads to a dramatic enhancement of its activity (>1000-fold). Belongs to the IL-1 family. Interleukin-36 pathway PE1 2 +NX_Q9UHB4 NADPH-dependent diflavin oxidoreductase 1 597 66763 5.95 0 Nucleoplasm;Cytosol;Perinuclear region;Cytoskeleton NA Component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery. Required for the maturation of extramitochondrial Fe-S proteins (By similarity). Part of an electron transfer chain functioning in an early step of cytosolic Fe-S biogenesis. Transfers electrons from NADPH to the Fe/S cluster of CIAPIN1. NA In the N-terminal section; belongs to the flavodoxin family.;In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.;Belongs to the NADPH-dependent diflavin oxidoreductase NDOR1 family. Cytosolic iron-sulfur cluster assembly PE1 9 +NX_Q9UHB6 LIM domain and actin-binding protein 1 759 85226 6.41 0 Cytoplasm;Cell membrane;Focal adhesion;Stress fiber;Cytosol;Cytoskeleton NA Actin-binding protein involved in actin cytoskeleton regulation and dynamics. Increases the number and size of actin stress fibers and inhibits membrane ruffling. Inhibits actin filament depolymerization. Bundles actin filaments, delays filament nucleation and reduces formation of branched filaments (PubMed:12566430). Plays a role in cholesterol homeostasis. Influences plasma cholesterol levels through regulation of intestinal cholesterol absorption. May act as a scaffold protein by regulating NPC1L1 transportation, an essential protein for cholesterol absorption, to the plasma membrane by recruiting MYO5B to NPC1L1, and thus facilitates cholesterol uptake (By similarity). Phosphorylation of the C-terminal region by MAPK1/MAPK3 reduces its association with F-actin and contributes to actin filament reorganization and enhances cell motility. NA NA PE1 12 +NX_Q9UHB7 AF4/FMR2 family member 4 1163 127459 9.33 0 Nucleoplasm;Nucleolus;Nucleus CHOPS syndrome Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression. NA Belongs to the AF4 family. Formation of RNA Pol II elongation complex;RNA Polymerase II Pre-transcription Events;RNA Polymerase II Transcription Elongation PE1 5 +NX_Q9UHB9 Signal recognition particle subunit SRP68 627 70730 8.75 0 Cytoplasm;Cytosol;Nucleolus NA Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. SRP68 binds the 7S RNA, SRP72 binds to this complex subsequently. This ribonucleoprotein complex might interact directly with the docking protein in the ER membrane and possibly participate in the elongation arrest function. NA Belongs to the SRP68 family. Protein export;SRP-dependent cotranslational protein targeting to membrane PE1 17 +NX_Q9UHC1 DNA mismatch repair protein Mlh3 1453 163711 6.33 0 Nucleoplasm;Nucleus Hereditary non-polyposis colorectal cancer 7;Colorectal cancer Probably involved in the repair of mismatches in DNA. NA Belongs to the DNA mismatch repair MutL/HexB family. Mismatch repair;Meiotic recombination PE1 14 +NX_Q9UHC3 Acid-sensing ion channel 3 531 58905 6.73 2 Nucleoplasm;Cytosol;Cytoplasm;Cell membrane NA Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Generates a biphasic current with a fast inactivating and a slow sustained phase. In sensory neurons is proposed to mediate the pain induced by acidosis that occurs in ischemic, damaged or inflamed tissue. May be involved in hyperalgesia. May play a role in mechanoreception. Heteromeric channel assembly seems to modulate channel properties. Phosphorylated by PKA. Phosphorylated by PKC. In vitro, PRKCABP/PICK-1 is necessary for PKC phosphorylation and activation of a ASIC3/ACCN3-ASIC2/ASIC2b channel, but does not activate a homomeric ASIC3 channel (By similarity). Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC3 subfamily. Stimuli-sensing channels PE1 7 +NX_Q9UHC6 Contactin-associated protein-like 2 1331 148167 6.12 1 Membrane;Axon;Paranodal septate junction Autism 15;Pitt-Hopkins-like syndrome 1 Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction. NA Belongs to the neurexin family. Cell adhesion molecules (CAMs) PE1 7 +NX_Q9UHC7 E3 ubiquitin-protein ligase makorin-1 482 53349 5.05 0 NA NA E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. These substrates include FILIP1, p53/TP53, CDKN1A and TERT. Keeps cells alive by suppressing p53/TP53 under normal conditions, but stimulates apoptosis by repressing CDKN1A under stress conditions. Acts as a negative regulator of telomerase. Has negative and positive effects on RNA polymerase II-dependent transcription. Auto-ubiquitinated; which leads to proteasomal degradation. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;AKT phosphorylates targets in the cytosol;Regulation of PTEN stability and activity PE1 7 +NX_Q9UHC9 NPC1-like intracellular cholesterol transporter 1 1359 148728 5.95 13 Cytoplasmic vesicle membrane;Apical cell membrane;Cell membrane NA Plays a major role in cholesterol homeostasis. Is critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte. Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorption. Lack of activity leads to multiple lipid transport defects. The protein may have a function in the transport of multiple lipids and their homeostasis, and may play a critical role in regulating lipid metabolism. Acts as a negative regulator of NPC2 and down-regulates its expression and secretion by inhibiting its maturation and accelerating its degradation. Highly glycosylated. Belongs to the patched family. Fat digestion and absorption;Intestinal lipid absorption PE1 7 +NX_Q9UHD0 Interleukin-19 177 20452 7.62 0 Secreted NA May play some important roles in inflammatory responses. Up-regulates IL-6 and TNF-alpha and induces apoptosis (By similarity). NA Belongs to the IL-10 family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-20 family signaling PE1 1 +NX_Q9UHD1 Cysteine and histidine-rich domain-containing protein 1 332 37490 8.1 0 Cytoplasm;Cytosol NA Regulates centrosome duplication, probably by inhibiting the kinase activity of ROCK2. Proposed to act as co-chaperone for HSP90. May play a role in the regulation of NOD1 via a HSP90 chaperone complex. In vitro, has intrinsic chaperone activity. This function may be achieved by inhibiting association of ROCK2 with NPM1. Involved in stress response. Prevents tumorigenesis. NA NA NA PE1 11 +NX_Q9UHD2 Serine/threonine-protein kinase TBK1 729 83642 6.32 0 Cytoplasmic vesicle;Nucleoplasm;Cytoplasm Glaucoma 1, open angle, P;Encephalopathy, acute, infection-induced, herpes-specific, 8;Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Serine/threonine kinase that plays an essential role in regulating inflammatory responses to foreign agents (PubMed:12692549, PubMed:14703513, PubMed:18583960, PubMed:12702806, PubMed:15367631, PubMed:10581243, PubMed:11839743, PubMed:15485837, PubMed:21138416, PubMed:25636800, PubMed:23453971, PubMed:23453972, PubMed:23746807, PubMed:26611359). Following activation of toll-like receptors by viral or bacterial components, associates with TRAF3 and TANK and phosphorylates interferon regulatory factors (IRFs) IRF3 and IRF7 as well as DDX3X (PubMed:12692549, PubMed:14703513, PubMed:18583960, PubMed:12702806, PubMed:15367631, PubMed:25636800). This activity allows subsequent homodimerization and nuclear translocation of the IRFs leading to transcriptional activation of pro-inflammatory and antiviral genes including IFNA and IFNB (PubMed:12702806, PubMed:15367631, PubMed:25636800). In order to establish such an antiviral state, TBK1 form several different complexes whose composition depends on the type of cell and cellular stimuli (PubMed:23453971, PubMed:23453972, PubMed:23746807). Plays a key role in IRF3 activation: acts by first phosphorylating innate adapter proteins MAVS, TMEM173/STING and TICAM1 on their pLxIS motif, leading to recruitment of IRF3, thereby licensing IRF3 for phosphorylation by TBK1 (PubMed:25636800, PubMed:30842653). Phosphorylated IRF3 dissociates from the adapter proteins, dimerizes, and then enters the nucleus to induce expression of interferons (PubMed:25636800). Thus, several scaffolding molecules including FADD, TRADD, MAVS, AZI2, TANK or TBKBP1/SINTBAD can be recruited to the TBK1-containing-complexes (PubMed:21931631). Under particular conditions, functions as a NF-kappa-B effector by phosphorylating NF-kappa-B inhibitor alpha/NFKBIA, IKBKB or RELA to translocate NF-Kappa-B to the nucleus (PubMed:10783893, PubMed:15489227). Restricts bacterial proliferation by phosphorylating the autophagy receptor OPTN/Optineurin on 'Ser-177', thus enhancing LC3 binding affinity and antibacterial autophagy (PubMed:21617041). Phosphorylates SMCR8 component of the C9orf72-SMCR8 complex, promoting autophagosome maturation (PubMed:27103069). Phosphorylates and activates AKT1 (PubMed:21464307). Seems to play a role in energy balance regulation by sustaining a state of chronic, low-grade inflammation in obesity, wich leads to a negative impact on insulin sensitivity (By similarity). Attenuates retroviral budding by phosphorylating the endosomal sorting complex required for transport-I (ESCRT-I) subunit VPS37C (PubMed:21270402). Phosphorylates Borna disease virus (BDV) P protein (PubMed:16155125). Plays an essential role in the TLR3- and IFN-dependent control of herpes virus HSV-1 and HSV-2 infections in the central nervous system (PubMed:22851595). 'Lys-63'-linked polyubiquitination by MIB1 after RNA virus infection, or by NRDP1 after LPS stimulation at Lys-30 and Lys-401, participates in kinase activation. 'Lys-48'-linked polyubiquitination at Lys-670 by DTX4 leads to proteasomal degradation. 'Lys-48'-linked polyubiquitination by TRAIP also leads to proteasomal degradation. 'Lys-63'-linked polyubiquitination by RNF128 at Lys-30 and Lys-401 leads to the activation of antiviral responses.;Autophosphorylation at Ser-172 activates the kinase, and is an essential step for virus-triggered signaling. Phosphorylated by IKBKB/IKKB at Ser-172. Phosphorylation requires homodimerization and ubiquitination at Lys-30 and Lys-401. Dephosphorylated at Ser-172 by PPM1B and this negatively regulates its role in mediating antiviral response. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. I-kappa-B kinase subfamily. Toll-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Hepatitis C;Measles;Influenza A;Herpes simplex infection;TRAF6 mediated IRF7 activation;Negative regulators of DDX58/IFIH1 signaling;Regulation of innate immune responses to cytosolic DNA;IRF3-mediated induction of type I IFN;IRF3 mediated activation of type 1 IFN;STAT6-mediated induction of chemokines;TRAF3-dependent IRF activation pathway;Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;TICAM1-dependent activation of IRF3/IRF7;Interleukin-37 signaling PE1 12 +NX_Q9UHD4 Cell death activator CIDE-B 219 24678 9.01 0 NA NA Activates apoptosis. NA NA NA PE1 14 +NX_Q9UHD8 Septin-9 586 65401 9.06 0 Cytoskeleton Hereditary neuralgic amyotrophy Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri. NA Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. NA PE1 17 +NX_Q9UHD9 Ubiquilin-2 624 65696 5.15 0 Cytoplasm;Cell membrane;Membrane;Autophagosome;Cytosol;Nucleus Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin-proteasome system (UPS), autophagy and the endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (PubMed:10983987). Plays a role in the ERAD pathway via its interaction with ER-localized proteins FAF2/UBXD8 and HERPUD1 and may form a link between the polyubiquitinated ERAD substrates and the proteasome (PubMed:24215460, PubMed:18307982). Involved in the regulation of macroautophagy and autophagosome formation; required for maturation of autophagy-related protein LC3 from the cytosolic form LC3-I to the membrane-bound form LC3-II and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:19148225, PubMed:20529957). Negatively regulates the endocytosis of GPCR receptors: AVPR2 and ADRB2, by specifically reducing the rate at which receptor-arrestin complexes concentrate in clathrin-coated pits (CCPs) (PubMed:18199683). Degraded during macroautophagy. NA Protein processing in endoplasmic reticulum;Cargo recognition for clathrin-mediated endocytosis PE1 X +NX_Q9UHE5 N-acetyltransferase 8 227 25619 9.08 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane NA Acetylates the free alpha-amino group of cysteine S-conjugates to form mercapturic acids (PubMed:20392701). This is the final step in a major route for detoxification of a wide variety of reactive electrophiles which starts with their incorporation into glutathione S-conjugates. The glutathione S-conjugates are then further processed into cysteine S-conjugates and finally mercapturic acids which are water soluble and can be readily excreted in urine or bile. Alternatively, may have a lysine N-acetyltransferase activity catalyzing peptidyl-lysine N6-acetylation of various proteins. Thereby, may regulate apoptosis through the acetylation and the regulation of the expression of PROM1 (PubMed:24556617). May also regulate amyloid beta-peptide secretion through acetylation of BACE1 and the regulation of its expression in neurons (PubMed:19011241). NA Belongs to the camello family. Sulfur metabolism; glutathione metabolism.;Amyloid fiber formation PE1 2 +NX_Q9UHE8 Metalloreductase STEAP1 339 39851 9.28 6 Endosome membrane NA Metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+). Uses NAD(+) as acceptor. NA Belongs to the STEAP family. Mineral absorption PE1 7 +NX_Q9UHF0 Tachykinin-3 121 13438 6.74 0 Cytoplasmic vesicle;Secreted Hypogonadotropic hypogonadism 10 with or without anosmia Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles (By similarity). Is a critical central regulator of gonadal function. NA Belongs to the tachykinin family. G alpha (q) signalling events;Tachykinin receptors bind tachykinins PE1 12 +NX_Q9UHF1 Epidermal growth factor-like protein 7 273 29618 8.58 0 Extracellular space NA Regulates vascular tubulogenesis in vivo. Inhibits platelet-derived growth factor (PDGF)-BB-induced smooth muscle cell migration and promotes endothelial cell adhesion to the extracellular matrix and angiogenesis. NA NA NA PE1 9 +NX_Q9UHF3 Putative N-acetyltransferase 8B 227 25366 9.39 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane NA May have a lysine N-acetyltransferase activity catalyzing peptidyl-lysine N6-acetylation of various proteins. Thereby, may regulate apoptosis through the acetylation and the regulation of the expression of PROM1 (PubMed:24556617). May also regulate amyloid beta-peptide secretion through acetylation of BACE1 and the regulation of its expression in neurons (PubMed:19011241). NA Belongs to the camello family. Amyloid fiber formation PE5 2 +NX_Q9UHF4 Interleukin-20 receptor subunit alpha 553 62485 4.78 1 Membrane;Cytosol NA The IL20RA/IL20RB dimer is a receptor for IL19, IL20 and IL24. The IL20RA/IL10RB dimer is a receptor for IL26. NA Belongs to the type II cytokine receptor family. Cytokine-cytokine receptor interaction;Jak-STAT signaling pathway;Interleukin-20 family signaling PE1 6 +NX_Q9UHF5 Interleukin-17B 180 20437 9.46 0 Secreted NA Stimulates the release of tumor necrosis factor alpha and IL-1-beta from the monocytic cell line THP-1. NA Belongs to the IL-17 family. Cytokine-cytokine receptor interaction PE1 5 +NX_Q9UHF7 Zinc finger transcription factor Trps1 1281 141521 7.53 0 Nucleoplasm;Nucleus Tricho-rhino-phalangeal syndrome 3;Tricho-rhino-phalangeal syndrome 1;Tricho-rhino-phalangeal syndrome 2 Transcriptional repressor. Binds specifically to GATA sequences and represses expression of GATA-regulated genes at selected sites and stages in vertebrate development. Regulates chondrocyte proliferation and differentiation. Executes multiple functions in proliferating chondrocytes, expanding the region of distal chondrocytes, activating proliferation in columnar cells and supporting the differentiation of columnar into hypertrophic chondrocytes. Sumoylated. Sumoylation in the repressor domain inhibits the transcription repression activity. Sumoylation on Lys-1201 is the major site. Appears to be sumoylated on multiple sites. NA NA PE1 8 +NX_Q9UHG0 Doublecortin domain-containing protein 2 476 52834 5.84 0 Centriolar satellite;Cilium;Cilium axoneme;Kinocilium;Cytosol;Spindle;Cytoskeleton Nephronophthisis 19;Dyslexia 2;Sclerosing cholangitis, neonatal;Deafness, autosomal recessive, 66 Protein that plays a role in the inhibition of canonical Wnt signaling pathway (PubMed:25557784). May be involved in neuronal migration during development of the cerebral neocortex (By similarity). Involved in the control of ciliogenesis and ciliary length (PubMed:25601850, PubMed:27319779). NA NA NA PE1 6 +NX_Q9UHG2 ProSAAS 260 27372 6.22 0 trans-Golgi network;Cytoplasmic vesicle;Secreted NA May function in the control of the neuroendocrine secretory pathway. Proposed be a specific endogenous inhibitor of PCSK1. ProSAAS and Big PEN-LEN, both containing the C-terminal inhibitory domain, but not the further processed peptides reduce PCSK1 activity in the endoplasmic reticulum and Golgi. It reduces the activity of the 84 kDa form but not the autocatalytically derived 66 kDa form of PCSK1. Subsequent processing of proSAAS may eliminate the inhibition. Slows down convertase-mediated processing of proopiomelanocortin and proenkephalin. May control the intracellular timing of PCSK1 rather than its total level of activity. The function of the processed secreted peptides is not known (By similarity). O-glycosylated with a core 1 or possibly core 8 glycan.;Proteolytically cleaved in the Golgi. NA NA PE1 X +NX_Q9UHG3 Prenylcysteine oxidase 1 505 56640 5.8 0 Lysosome NA Involved in the degradation of prenylated proteins. Cleaves the thioether bond of prenyl-L-cysteines, such as farnesylcysteine and geranylgeranylcysteine. The protein is glycosylated at one or more potential N-glycosylation sites. Belongs to the prenylcysteine oxidase family. NA PE1 2 +NX_Q9UHH9 Inositol hexakisphosphate kinase 2 426 49186 6.37 0 Nucleoplasm;Nucleolus;Cell junction;Nucleus NA Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). NA Belongs to the inositol phosphokinase (IPK) family. Phospholipid metabolism; phosphatidylinositol metabolism.;Interferon alpha/beta signaling;Synthesis of IPs in the nucleus PE1 3 +NX_Q9UHI5 Large neutral amino acids transporter small subunit 2 535 58382 5.69 12 Basolateral cell membrane;Cytoplasm NA Sodium-independent, high-affinity transport of small and large neutral amino acids such as alanine, serine, threonine, cysteine, phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Acts as an amino acid exchanger. Has higher affinity for L-phenylalanine than LAT1 but lower affinity for glutamine and serine. L-alanine is transported at physiological concentrations. Plays a role in basolateral (re)absorption of neutral amino acids. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Plays an essential role in the reabsorption of neutral amino acids from the epithelial cells to the bloodstream in the kidney. NA Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. Protein digestion and absorption;Amino acid transport across the plasma membrane;Basigin interactions PE1 14 +NX_Q9UHI6 Probable ATP-dependent RNA helicase DDX20 824 92241 6.49 0 Cytoplasm;Gem;Nucleoplasm;Cytosol;Nucleus NA The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs). NA Belongs to the DEAD box helicase family. DDX20 subfamily. RNA transport;snRNP Assembly PE1 1 +NX_Q9UHI7 Solute carrier family 23 member 1 598 64831 6.16 12 Cell membrane NA Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate. Phosphorylated. Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily. Vitamin C (ascorbate) metabolism PE1 5 +NX_Q9UHI8 A disintegrin and metalloproteinase with thrombospondin motifs 1 967 105358 6.4 0 Extracellular matrix;Cell membrane NA Cleaves aggrecan, a cartilage proteoglycan, at the '1938-Glu-|-Leu-1939' site (within the chondroitin sulfate attachment domain), and may be involved in its turnover (By similarity). Has angiogenic inhibitor activity. Active metalloprotease, which may be associated with various inflammatory processes as well as development of cancer cachexia. May play a critical role in follicular rupture. The precursor is cleaved by a furin endopeptidase.;Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity). NA Degradation of the extracellular matrix;O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 21 +NX_Q9UHJ3 Scm-like with four MBT domains protein 1 866 98141 5.86 0 Nucleoplasm;Nucleus NA Histone-binding protein, which is part of various corepressor complexes. Mediates the recruitment of corepressor complexes to target genes, followed by chromatin compaction and repression of transcription. Plays a role during myogenesis: required for the maintenance of undifferentiated states of myogenic progenitor cells via interaction with MYOD1. Interaction with MYOD1 leads to the recruitment of associated corepressors and silencing of MYOD1 target genes. Part of the SLC complex in germ cells, where it may play a role during spermatogenesis. NA NA NA PE1 3 +NX_Q9UHJ6 Sedoheptulokinase 478 51491 6.35 0 Cytoplasm;Nucleoplasm;Nucleus speckle Sedoheptulokinase deficiency Acts as a modulator of macrophage activation through control of glucose metabolism. NA Belongs to the FGGY kinase family. Pentose phosphate pathway PE1 17 +NX_Q9UHJ9 Post-GPI attachment to proteins factor 2 254 29400 8.47 5 Endoplasmic reticulum membrane;Cytoskeleton;Golgi apparatus membrane Hyperphosphatasia with mental retardation syndrome 3 Involved in the lipid remodeling steps of GPI-anchor maturation. Required for stable expression of GPI-anchored proteins at the cell surface (By similarity). NA Belongs to the PGAP2 family. NA PE1 11 +NX_Q9UHK0 Nuclear fragile X mental retardation-interacting protein 1 495 56300 9.21 0 Nucleoplasm;Nucleus;Nucleolus NA Binds RNA. NA NA NA PE1 13 +NX_Q9UHK6 Alpha-methylacyl-CoA racemase 382 42387 6.07 0 Cytoplasmic vesicle;Peroxisome;Mitochondrion;Cell membrane Alpha-methylacyl-CoA racemase deficiency;Congenital bile acid synthesis defect 4 Catalyzes the interconversion of (R)- and (S)-stereoisomers of alpha-methyl-branched-chain fatty acyl-CoA esters (PubMed:7649182, PubMed:10655068, PubMed:11060359). Acts only on coenzyme A thioesters, not on free fatty acids, and accepts as substrates a wide range of alpha-methylacyl-CoAs, including pristanoyl-CoA, trihydroxycoprostanoyl-CoA (an intermediate in bile acid synthesis), and arylpropionic acids like the anti-inflammatory drug ibuprofen (2-(4-isobutylphenyl)propionic acid) but neither 3-methyl-branched nor linear-chain acyl-CoAs (PubMed:7649182, PubMed:10655068, PubMed:11060359). NA Belongs to the CoA-transferase III family. Lipid metabolism; bile acid biosynthesis.;Lipid metabolism; fatty acid metabolism.;Primary bile acid biosynthesis;Metabolic pathways;Peroxisome;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 24-hydroxycholesterol;Beta-oxidation of pristanoyl-CoA;Peroxisomal protein import PE1 5 +NX_Q9UHL0 ATP-dependent RNA helicase DDX25 483 54692 5.89 0 Cytoplasm;Nucleus NA ATP-dependent RNA helicase. Required for mRNA export and translation regulation during spermatid development (By similarity). Phosphorylated on threonine residues. The phosphorylated form is found in the cytoplasm but not in the nucleus (By similarity). Belongs to the DEAD box helicase family. NA PE1 11 +NX_Q9UHL3 Protein FAM153A 310 34712 4.68 0 NA NA NA NA Belongs to the FAM153 family. NA PE2 5 +NX_Q9UHL4 Dipeptidyl peptidase 2 492 54341 5.91 0 Golgi apparatus;Cytoplasmic vesicle;Secreted;Lysosome NA Plays an important role in the degradation of some oligopeptides. N-glycosylated. Belongs to the peptidase S28 family. Neutrophil degranulation PE1 9 +NX_Q9UHL9 General transcription factor II-I repeat domain-containing protein 1 959 106057 6.45 0 Nucleoplasm;Cytosol;Nucleus NA May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity). NA Belongs to the TFII-I family. Basal transcription factors;Herpes simplex infection PE1 7 +NX_Q9UHM6 Melanopsin 478 52635 9.35 7 Cell membrane NA Photoreceptor required for regulation of circadian rhythm. Contributes to pupillar reflex and other non-image forming responses to light. May be able to isomerize covalently bound all-trans retinal back to 11-cis retinal (By similarity). NA Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. G alpha (q) signalling events;Opsins PE1 10 +NX_Q9UHN1 DNA polymerase subunit gamma-2, mitochondrial 485 54911 8.64 0 Mitochondrion;Nucleus Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA. NA NA Metabolic pathways;Transcriptional activation of mitochondrial biogenesis PE1 17 +NX_Q9UHN6 Cell surface hyaluronidase 1383 154374 8.41 1 Cytoplasmic vesicle;Cell membrane NA Cell surface hyaluronidase that mediates the initial cleavage of extracellular high-molecular-weight hyaluronan into intermediate-size hyaluronan of approximately 5 kDa fragments (PubMed:28246172). Acts as a regulator of angiogenesis and heart morphogenesis by mediating degradation of extracellular hyaluronan, thereby regulating VEGF signaling (By similarity). Is very specific to hyaluronan; not able to cleave chondroitin sulfate or dermatan sulfate (PubMed:28246172). NA Belongs to the CEMIP family. NA PE1 9 +NX_Q9UHP3 Ubiquitin carboxyl-terminal hydrolase 25 1055 122218 5.22 0 Cytoplasm;Cytosol;Nucleus NA Deubiquitinating enzyme that hydrolyzes ubiquitin moieties conjugated to substrates and thus, functions to process newly synthesized Ubiquitin, to recycle ubiquitin molecules or to edit polyubiquitin chains and prevents proteasomal degradation of substrates. Hydrolyzes both 'Lys-48'- and 'Lys-63'-linked tetraubiquitin chains.;The muscle-specific isoform (USP25m) may have a role in the regulation of muscular differentiation and function. Preferentially monoubiquitinated but can also be polyubiquitinated. Autodeubiquitinated. Ubiquitination activates the enzymatic activity either by preventing sumoylation or by allowing novel interactions.;Phosphorylation in the C-terminal by SYK regulates USP25 cellular levels.;Sumoylation impairs binding to and hydrolysis of ubiquitin chains. Sumoylated preferentially with SUMO2 or SUMO3. Desumoylated by SENP1. Regulated by ubiquitination on the same residue.;Acetylated. Belongs to the peptidase C19 family. Ub-specific processing proteases PE1 21 +NX_Q9UHP6 Radial spoke head 14 homolog 348 38592 6.43 0 Nucleolus NA NA NA Belongs to the flagellar radial spoke RSP14 family. NA PE1 22 +NX_Q9UHP7 C-type lectin domain family 2 member D 191 21849 6.37 1 Golgi apparatus;Endoplasmic reticulum;Nucleoplasm;Cell membrane NA Receptor for KLRB1 that protects target cells against natural killer cell-mediated lysis (PubMed:20843815, PubMed:16339513). Inhibits osteoclast formation (PubMed:14753741, PubMed:15123656). Inhibits bone resorption (PubMed:14753741). Modulates the release of interferon-gamma (PubMed:15104121). Binds high molecular weight sulfated glycosaminoglycans (PubMed:15123656). N-glycosylated. NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 12 +NX_Q9UHP9 Small muscular protein 88 9559 9.21 0 Cell membrane Deafness, X-linked, 4 Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair. NA Belongs to the SMPX family. NA PE1 X +NX_Q9UHQ1 Nuclear prelamin A recognition factor 456 51156 6.63 0 Nucleoplasm;Nucleolus;Nucleus NA NA NA Belongs to the NARF family. NA PE1 17 +NX_Q9UHQ4 B-cell receptor-associated protein 29 241 28320 9.55 3 Cytosol;Endoplasmic reticulum membrane NA May play a role in anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi. May be involved in CASP8-mediated apoptosis (By similarity). NA Belongs to the BCAP29/BCAP31 family. NA PE1 7 +NX_Q9UHQ7 Transcription elongation factor A protein-like 9 104 12749 5.35 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the TFS-II family. TFA subfamily. NA PE1 X +NX_Q9UHQ9 NADH-cytochrome b5 reductase 1 305 34095 9.41 1 Membrane;Cytosol;Mitochondrion;Nucleolus NA NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction. NA Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family. Amino sugar and nucleotide sugar metabolism;Platelet degranulation;Erythrocytes take up carbon dioxide and release oxygen PE1 1 +NX_Q9UHR4 Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1 511 56883 8.82 0 Cytosol;Cytoskeleton;Cell membrane NA May function as adapter protein. Involved in the formation of clusters of actin bundles. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. Phosphorylated on tyrosine in response to insulin. NA NA PE1 7 +NX_Q9UHR5 SAP30-binding protein 308 33870 4.74 0 Cytoplasm;Nucleoplasm;Nucleus NA Induces cell death. May act as a transcriptional corepressor of a gene related to cell survival. May be involved in the regulation of beta-2-microglobulin genes. NA Belongs to the HCNGP family. NoRC negatively regulates rRNA expression PE1 17 +NX_Q9UHR6 Zinc finger HIT domain-containing protein 2 403 42884 5.69 0 NA NA May act as a bridging factor mediating the interaction between the R2TP/Prefoldin-like (R2TP/PFDL) complex and U5 small nuclear ribonucleoprotein (U5 snRNP) (PubMed:28561026). Required for the interaction of R2TP complex subunit RPAP3 and prefoldin-like subunit URI1 with U5 snRNP proteins EFTUD2 and PRPF8 (PubMed:28561026). May play a role in regulating the composition of the U5 snRNP complex (PubMed:28561026). NA NA NA PE1 11 +NX_Q9UHT4 Putative uncharacterized protein PRO1854 67 8314 10.1 0 NA NA NA NA NA NA PE5 7 +NX_Q9UHU1 Putative uncharacterized protein PRO1716 43 4899 8.16 0 NA NA NA NA NA NA PE5 11 +NX_Q9UHV2 SERTA domain-containing protein 1 236 24704 4.29 0 Golgi apparatus;Nucleoplasm NA Acts at E2F-responsive promoters as coregulator to integrate signals provided by PHD- and/or bromodomain-containing transcription factors. Stimulates E2F1/TFDP1 transcriptional activity. Renders the activity of cyclin D1/CDK4 resistant to the inhibitory effects of CDKN2A/p16INK4A. Polyubiquitinated, which promotes proteasomal degradation. NA NA PE1 19 +NX_Q9UHV5 Rap guanine nucleotide exchange factor-like 1 662 73265 5.94 0 Nucleoplasm;Cytoskeleton NA Probable guanine nucleotide exchange factor (GEF). NA NA NA PE1 17 +NX_Q9UHV7 Mediator of RNA polymerase II transcription subunit 13 2174 239297 5.4 0 Nucleoplasm;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. MED13 is phosphorylated by CDK8 Belongs to the Mediator complex subunit 13 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 17 +NX_Q9UHV8 Galactoside-binding soluble lectin 13 139 16119 5.43 0 Cytoplasm;Nucleus matrix NA Binds beta-galactoside and lactose. Strong inducer of T-cell apoptosis (PubMed:10527825, PubMed:19497882). Has hemagglutinating activity towards chicken erythrocytes (PubMed:29343868). NA NA NA PE1 19 +NX_Q9UHV9 Prefoldin subunit 2 154 16648 6.2 0 Cytoplasm;Cytosol;Mitochondrion;Nucleus NA Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins. NA Belongs to the prefoldin subunit beta family. Prefoldin mediated transfer of substrate to CCT/TriC PE1 1 +NX_Q9UHW5 GPN-loop GTPase 3 284 32761 4.38 0 Cytosol;Nucleus speckle NA Small GTPase required for proper localization of RNA polymerase II (RNAPII). May act at an RNAP assembly step prior to nuclear import. NA Belongs to the GPN-loop GTPase family. NA PE1 12 +NX_Q9UHW9 Solute carrier family 12 member 6 1150 127617 6.64 12 Basolateral cell membrane;Cytosol;Cytoplasmic vesicle Agenesis of the corpus callosum, with peripheral neuropathy Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells. N-glycosylated. Belongs to the SLC12A transporter family. Cation-coupled Chloride cotransporters;Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) PE1 15 +NX_Q9UHX1 Poly(U)-binding-splicing factor PUF60 559 59875 5.19 0 Cytoplasm;Nucleoplasm;Nucleus Verheij syndrome May contribute to tumor progression by enabling increased MYC expression and greater resistance to apoptosis in tumors than in normal cells. Modulates alternative splicing of several mRNAs. Binds to relaxed DNA of active promoter regions. Binds to the pyrimidine tract and 3'-splice site regions of pre-mRNA; binding is enhanced in presence of U2AF2. Binds to Y5 RNA in association with TROVE2. Binds to poly(U) RNA.;Failed to repress MYC transcription and inhibited FIR-induced apoptosis in colorectal cancer.;DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B (XPB) cells. Is also involved in pre-mRNA splicing. Promotes splicing of an intron with weak 3'-splice site and pyrimidine tract in a cooperative manner with U2AF2. Involved in apoptosis induction when overexpressed in HeLa cells. NA Belongs to the RRM half pint family. Spliceosome;mRNA Splicing - Major Pathway PE1 8 +NX_Q9UHX3 Adhesion G protein-coupled receptor E2 823 90472 6.47 7 Ruffle membrane;Cytoplasmic vesicle;Cytosol;Cell membrane Vibratory urticaria Cell surface receptor that binds to the chondroitin sulfate moiety of glycosaminoglycan chains and promotes cell attachment. Promotes granulocyte chemotaxis, degranulation and adhesion. In macrophages, promotes the release of inflammatory cytokines, including IL8 and TNF. Signals probably through G-proteins. Is a regulator of mast cell degranulation (PubMed:26841242). Autoproteolytically cleaved into 2 subunits, an extracellular alpha subunit and a seven-transmembrane beta subunit. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. Class B/2 (Secretin family receptors) PE1 19 +NX_Q9UHY1 Nuclear receptor-binding protein 535 59845 5.02 0 Lamellipodium;Cell cortex;Endomembrane system;Cytosol NA May play a role in subcellular trafficking between the endoplasmic reticulum and Golgi apparatus through interactions with the Rho-type GTPases. Binding to the NS3 protein of dengue virus type 2 appears to subvert this activity into the alteration of the intracellular membrane structure associated with flaviviral replication. NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Nuclear Receptor transcription pathway PE1 2 +NX_Q9UHY7 Enolase-phosphatase E1 261 28933 4.66 0 Cytoplasm;Nucleoplasm;Nucleus NA Bifunctional enzyme that catalyzes the enolization of 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P) into the intermediate 2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate (HK-MTPenyl-1-P), which is then dephosphorylated to form the acireductone 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene). NA Belongs to the HAD-like hydrolase superfamily. MasA/MtnC family. Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; L-methionine from S-methyl-5-thio-alpha-D-ribose 1-phosphate: step 3/6.;Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; L-methionine from S-methyl-5-thio-alpha-D-ribose 1-phosphate: step 4/6.;Cysteine and methionine metabolism;Methionine salvage pathway PE1 4 +NX_Q9UHY8 Fasciculation and elongation protein zeta-2 353 39666 4.52 0 Golgi apparatus;Cytosol;Nucleolus NA Involved in axonal outgrowth and fasciculation. NA Belongs to the zygin family. NA PE1 2 +NX_Q9UI08 Ena/VASP-like protein 416 44620 8.91 0 Stress fiber;Lamellipodium;Cytoplasmic vesicle;Cytosol;Cytoskeleton NA Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells. EVL enhances actin nucleation and polymerization. Phosphorylated by PKA; phosphorylation abolishes binding to SH3 domains of ABL and SRC. Belongs to the Ena/VASP family. Generation of second messenger molecules;RHO GTPases Activate Formins;Signaling by ROBO receptors PE1 14 +NX_Q9UI09 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 145 17114 9.63 0 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex I deficiency, nuclear type 23 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I NDUFA12 subunit family. Oxidative phosphorylation;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 12 +NX_Q9UI10 Translation initiation factor eIF-2B subunit delta 523 57557 9.45 0 Nucleus membrane;Cytoskeleton Leukodystrophy with vanishing white matter Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. NA Belongs to the eIF-2B alpha/beta/delta subunits family. RNA transport;Recycling of eIF2:GDP PE1 2 +NX_Q9UI12 V-type proton ATPase subunit H 483 55883 6.07 0 Cytosol;Cytoskeleton NA Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates the ATPase activity of the enzyme and couples ATPase activity to proton flow. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). Involved in the endocytosis mediated by clathrin-coated pits, required for the formation of endosomes. NA Belongs to the V-ATPase H subunit family. Oxidative phosphorylation;Metabolic pathways;Lysosome;Phagosome;Synaptic vesicle cycle;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Tuberculosis;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport;Nef Mediated CD8 Down-regulation;Nef Mediated CD4 Down-regulation PE1 8 +NX_Q9UI14 Prenylated Rab acceptor protein 1 185 20648 6.83 4 Golgi apparatus;Cytoplasm;Cell membrane;Nucleus membrane;Nucleolus;Synaptic vesicle NA General Rab protein regulator required for vesicle formation from the Golgi complex. May control vesicle docking and fusion by mediating the action of Rab GTPases to the SNARE complexes. In addition it inhibits the removal of Rab GTPases from the membrane by GDI. NA Belongs to the PRA1 family. NA PE1 19 +NX_Q9UI15 Transgelin-3 199 22473 6.84 0 NA NA NA NA Belongs to the calponin family. NA PE1 3 +NX_Q9UI17 Dimethylglycine dehydrogenase, mitochondrial 866 96811 7.31 0 Mitochondrion DMGDH deficiency Catalyzes the demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro. NA Belongs to the GcvT family. Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 2/2.;Glycine, serine and threonine metabolism;Metabolic pathways;Choline catabolism PE1 5 +NX_Q9UI25 Putative uncharacterized protein PRO0461 63 6971 6.23 0 NA NA NA NA NA NA PE5 16 +NX_Q9UI26 Importin-11 975 112535 5.14 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Mediates the nuclear import of UBE2E3, and of RPL12 (By similarity). NA Belongs to the importin beta family. NA PE1 5 +NX_Q9UI30 Multifunctional methyltransferase subunit TRM112-like protein 125 14199 5.21 0 Nucleoplasm;Perinuclear region;Cytoskeleton NA Acts as an activator of both rRNA/tRNA and protein methyltransferases (PubMed:25851604). Together with methyltransferase BUD23, methylates the N(7) position of a guanine in 18S rRNA (PubMed:25851604). The heterodimer with HEMK2/N6AMT1 catalyzes N5-methylation of ETF1 on 'Gln-185', using S-adenosyl L-methionine as methyl donor (PubMed:18539146). The heterodimer with ALKBH8 catalyzes the methylation of 5-carboxymethyl uridine to 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in target tRNA species (PubMed:20308323). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production (PubMed:25851604). NA Belongs to the TRM112 family. Methylation;Eukaryotic Translation Termination;tRNA modification in the nucleus and cytosol;rRNA modification in the nucleus and cytosol PE1 11 +NX_Q9UI32 Glutaminase liver isoform, mitochondrial 602 66323 6.9 0 Mitochondrion NA Plays an important role in the regulation of glutamine catabolism. Promotes mitochondrial respiration and increases ATP generation in cells by catalyzing the synthesis of glutamate and alpha-ketoglutarate. Increases cellular anti-oxidant function via NADH and glutathione production. May play a role in preventing tumor proliferation. NA Belongs to the glutaminase family. Alanine, aspartate and glutamate metabolism;Arginine and proline metabolism;D-Glutamine and D-glutamate metabolism;Nitrogen metabolism;Metabolic pathways;Glutamatergic synapse;GABAergic synapse;Proximal tubule bicarbonate reclamation;TP53 Regulates Metabolic Genes;Glutamate Neurotransmitter Release Cycle;Glutamate and glutamine metabolism PE1 12 +NX_Q9UI33 Sodium channel protein type 11 subunit alpha 1791 204922 8.32 24 Cell membrane Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, 7 This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronal depolarization. Phosphorylation at Ser-1341 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.9/SCN11A subfamily. Interaction between L1 and Ankyrins;Phase 0 - rapid depolarisation PE1 3 +NX_Q9UI36 Dachshund homolog 1 758 78562 8.75 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator of SIX1, SIX6 and probably SIX5. Corepression of precursor cell proliferation in myoblasts by SIX1 is switched to coactivation through recruitment of EYA3 to the SIX1-DACH1 complex. Transcriptional activation seems also to involve association of CREBBP. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin-dependent kinase inhibitors, including the p27Kip1 promoter (By similarity). Inhibits TGF-beta signaling through interaction with SMAD4 and NCOR1. Binds to chromatin DNA via its DACHbox-N domain (By similarity). NA Belongs to the DACH/dachshund family. NA PE1 13 +NX_Q9UI38 Probable threonine protease PRSS50 385 43088 8.58 0 Endoplasmic reticulum NA May be involved in proteolysis through its threonine endopeptidase activity. NA Belongs to the peptidase S1 family. NA PE1 3 +NX_Q9UI40 Sodium/potassium/calcium exchanger 2 661 73664 5.71 11 Membrane NA Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). NA Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily. Sodium/Calcium exchangers PE1 9 +NX_Q9UI42 Carboxypeptidase A4 421 47351 6.23 0 Nucleoplasm;Cytosol;Centrosome;Secreted NA Metalloprotease that could be involved in the histone hyperacetylation pathway (PubMed:10383164). Releases a C-terminal amino acid, with preference for -Phe, -Leu, -Ile, -Met, -Tyr and -Val (PubMed:20385563). NA Belongs to the peptidase M14 family. NA PE1 7 +NX_Q9UI43 rRNA methyltransferase 2, mitochondrial 246 27424 9.6 0 Mitochondrion NA S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methyluridine at position 1369 (Um1369) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA. NA Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family. rRNA modification in the mitochondrion PE1 7 +NX_Q9UI46 Dynein intermediate chain 1, axonemal 699 79283 6.4 0 Cilium;Cilium axoneme Kartagener syndrome;Ciliary dyskinesia, primary, 1 Part of the dynein complex of respiratory cilia. NA Belongs to the dynein intermediate chain family. Huntington's disease PE1 9 +NX_Q9UI47 Catenin alpha-3 895 99809 5.83 0 Cytoskeleton Arrhythmogenic right ventricular dysplasia, familial, 13 May be involved in formation of stretch-resistant cell-cell adhesion complexes. NA Belongs to the vinculin/alpha-catenin family. Adherens junction;Tight junction;Leukocyte transendothelial migration;Bacterial invasion of epithelial cells;Pathways in cancer;Endometrial cancer;Arrhythmogenic right ventricular cardiomyopathy (ARVC) PE1 10 +NX_Q9UI54 Putative uncharacterized protein PRO0628 55 6387 10.3 0 NA NA NA NA NA NA PE5 20 +NX_Q9UI72 Putative uncharacterized protein PRO0255 69 8249 9.35 0 NA NA NA NA NA NA PE5 5 +NX_Q9UI95 Mitotic spindle assembly checkpoint protein MAD2B 211 24334 6.05 0 Cytoplasm;Nucleolus;Chromosome;Cytosol;Spindle;Nucleus Fanconi anemia, complementation group V Adapter protein able to interact with different proteins and involved in different biological processes (PubMed:11459825, PubMed:11459826, PubMed:17719540, PubMed:17296730, PubMed:19443654, PubMed:29656893). Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis (PubMed:20164194). Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions (PubMed:20164194). Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs) (PubMed:29656893). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection (PubMed:29656893). Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres (PubMed:29656893). May also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediated phosphorylation and activation of the transcriptional activator ELK1 (PubMed:17296730). Inhibits the FZR1- and probably CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell cycle (PubMed:11459825, PubMed:17719540). Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal transdifferentiation (PubMed:19443654). NA NA Cell cycle;Oocyte meiosis;Progesterone-mediated oocyte maturation;Bacterial invasion of epithelial cells;Shigellosis;Translesion synthesis by POLI;Translesion synthesis by REV1;Translesion synthesis by POLK PE1 1 +NX_Q9UIA0 Cytohesin-4 394 45672 6.08 0 Cell membrane NA Promotes guanine-nucleotide exchange on ARF1 and ARF5. Promotes the activation of ARF factors through replacement of GDP with GTP. NA NA Intra-Golgi traffic PE1 22 +NX_Q9UIA9 Exportin-7 1087 123907 5.91 0 Cytoplasm;Nucleus;Nuclear pore complex NA Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO7 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. NA Belongs to the exportin family. NA PE1 8 +NX_Q9UIB8 SLAM family member 5 345 38782 6.61 1 Cytoplasmic vesicle;Cell membrane NA Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Can mediate natural killer (NK) cell cytotoxicity dependent on SH2D1A and SH2D1B (By similarity). Increases proliferative responses of activated T-cells and SH2D1A/SAP does not seem be required for this process. Homophilic interactions enhance interferon gamma/IFNG secretion in lymphocytes and induce platelet stimulation via a SH2D1A-dependent pathway. May serve as a marker for hematopoietic progenitor cells (PubMed:11564780, PubMed:12115647. PubMed:12928397, PubMed:12962726, PubMed:16037392) Required for a prolonged T-cell:B-cell contact, optimal T follicular helper function, and germinal center formation. In germinal centers involved in maintaining B-cell tolerance and in preventing autoimmunity (By similarity). In mast cells negatively regulates high affinity immunoglobulin epsilon receptor signaling; independent of SH2D1A and SH2D1B but implicating FES and PTPN6/SHP-1 (PubMed:22068234). In macrophages enhances LPS-induced MAPK phosphorylation and NF-kappaB activation and modulates LPS-induced cytokine secretion; involving ITSM 2 (By similarity). Positively regulates macroautophagy in primary dendritic cells via stabilization of IRF8; inhibits TRIM21-mediated proteasomal degradation of IRF8 (PubMed:29434592). N-glycosylated.;Phosphorylated by tyrosine-protein kinase LCK on tyrosine residues following ligation induced by agonist monoclonal antibody. The association with SH2D1A is dependent of tyrosine phosphorylation of its cytoplasmic domain. Phosphorylated on Tyr-296 and Tyr-316 following platelet aggregation. Phosphorylated on tyrosine residues upon high affinity immunoglobulin epsilon receptor aggregation in mast cells. NA Cell surface interactions at the vascular wall PE1 1 +NX_Q9UIC8 Leucine carboxyl methyltransferase 1 334 38379 5.73 0 Nucleoplasm;Cytosol NA Methylates the carboxyl group of the C-terminal leucine residue of protein phosphatase 2A catalytic subunits to form alpha-leucine ester residues. NA Belongs to the methyltransferase superfamily. LCMT family. Histidine metabolism;Tyrosine metabolism;Cyclin A/B1/B2 associated events during G2/M transition PE1 16 +NX_Q9UID3 Vacuolar protein sorting-associated protein 51 homolog 782 86042 6.06 0 trans-Golgi network;Golgi apparatus;Recycling endosome;Nucleolus;Cytoplasmic vesicle NA Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of protein retrieval from endosomes to the TGN, acid hydrolase sorting, lysosome function, endosomal cholesterol traffic and autophagy. VPS51 participates in retrograde transport of acid hydrolase receptors, likely by promoting tethering and SNARE-dependent fusion of endosome-derived carriers to the TGN (PubMed:20685960). Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061). NA Belongs to the VPS51 family. Retrograde transport at the Trans-Golgi-Network PE1 11 +NX_Q9UID6 Zinc finger protein 639 485 56054 5.3 0 Nucleoplasm;Nucleus NA Binds DNA and may function as a transcriptional repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 3 +NX_Q9UIE0 Zinc finger protein 230 474 54542 8.75 0 Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9UIF3 Tektin-2 430 49672 5.39 0 Flagellum axoneme;Microtubule organizing center;Cilium axoneme;Cytoskeleton NA Structural component of ciliary and flagellar microtubules. Plays a key role in the assembly or attachment of the inner dynein arm to microtubules in sperm flagella and tracheal cilia. Forms filamentous polymers in the walls of ciliary and flagellar microtubules. Tyrosine phosphorylated. Belongs to the tektin family. NA PE1 1 +NX_Q9UIF7 Adenine DNA glycosylase 546 60069 8.99 0 Nucleoplasm;Mitochondrion;Nucleus Familial adenomatous polyposis 2;Gastric cancer Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities. NA Belongs to the Nth/MutY family. Base excision repair;Recognition and association of DNA glycosylase with site containing an affected purine;Cleavage of the damaged purine;Displacement of DNA glycosylase by APEX1;Defective MUTYH substrate binding;Defective MUTYH substrate processing PE1 1 +NX_Q9UIF8 Bromodomain adjacent to zinc finger domain protein 2B 2168 240459 6.13 0 Nucleoplasm;Cytosol;Nucleus NA May play a role in transcriptional regulation interacting with ISWI. NA Belongs to the WAL family. NA PE1 2 +NX_Q9UIF9 Bromodomain adjacent to zinc finger domain protein 2A 1905 211198 6.22 0 Nucleus speckle;Nucleolus NA Essential component of the NoRC (nucleolar remodeling complex) complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing. In the complex, it plays a central role by being recruited to rDNA and by targeting chromatin modifying enzymes such as HDAC1, leading to repress RNA polymerase I transcription. Recruited to rDNA via its interaction with TTF1 and its ability to recognize and bind histone H4 acetylated on 'Lys-16' (H4K16ac), leading to deacetylation of H4K5ac, H4K8ac, H4K12ac but not H4K16ac. Specifically binds pRNAs, 150-250 nucleotide RNAs that are complementary in sequence to the rDNA promoter; pRNA-binding is required for heterochromatin formation and rDNA silencing (By similarity). Acetylation at Lys-680 by KAT8/MOF promotes its dissociation from pRNA, affecting heterochromatin formation, nucleosome positioning and rDNA silencing. Deacetylation by SIRT1 in late S phase enhances pRNA-binding, allowing de novo DNA methylation and heterochromatin formation. Acetylation is high during S phase and declines to background levels in late S phase when the silent copies of rRNA genes are replicated (By similarity).;Ubiquitinated. Deubiquitinated by USP21 leading to its stabilization. Belongs to the WAL family. NoRC negatively regulates rRNA expression PE1 12 +NX_Q9UIG0 Tyrosine-protein kinase BAZ1B 1483 170903 8.7 0 Nucleus NA Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a transcription regulator. Involved in DNA damage response by phosphorylating 'Tyr-142' of histone H2AX (H2AXY142ph). H2AXY142ph plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the histone H2AX phosphorylation at 'Tyr-142', and is involved in the maintenance of chromatin structures during DNA replication processes. In the complex, it mediates the recruitment of the WICH complex to replication foci during DNA replication. NA Belongs to the WAL family. BAZ1B subfamily. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;B-WICH complex positively regulates rRNA expression PE1 7 +NX_Q9UIG4 Psoriasis susceptibility 1 candidate gene 2 protein 136 15101 4.48 0 Secreted NA NA NA NA NA PE1 6 +NX_Q9UIG5 Psoriasis susceptibility 1 candidate gene 1 protein 152 16580 5.93 0 Nucleoplasm NA NA NA NA NA PE2 6 +NX_Q9UIG8 Solute carrier organic anion transporter family member 3A1 710 76553 6.34 12 Cell membrane NA Mediates the Na(+)-independent transport of organic anions such as estrone-3-sulfate (PubMed:10873595). Mediates transport of prostaglandins (PG) E1 and E2, thyroxine (T4), deltorphin II, BQ-123 and vasopressin, but not DPDPE (a derivative of enkephalin lacking an N-terminal tyrosine residue), estrone-3-sulfate, taurocholate, digoxin nor DHEAS (PubMed:16971491). NA Belongs to the organo anion transporter (TC 2.A.60) family. Transport of organic anions PE1 15 +NX_Q9UIH9 Krueppel-like factor 15 416 43992 8.48 0 Nucleus NA Transcriptional regulator that binds to the GA element of the CLCNKA promoter. Binds to the KCNIP2 promoter and regulates KCNIP2 circadian expression in the heart (By similarity). Is a repressor of CCN2 expression, involved in the control of cardiac fibrosis. It is also involved in the control of cardiac hypertrophy acting through the inhibition of MEF2A and GATA4 (By similarity). Involved in podocyte differentiation (By similarity). Inhibits MYOCD activity. Is a negative regulator of TP53 acetylation. Inhibits NF-kappa-B activation through repression of EP300-dependent RELA acetylation. NA Belongs to the Sp1 C2H2-type zinc-finger protein family. BMAL1:CLOCK,NPAS2 activates circadian gene expression PE1 3 +NX_Q9UII2 ATPase inhibitor, mitochondrial 106 12249 9.34 0 Mitochondrion NA Endogenous F(1)F(o)-ATPase inhibitor limiting ATP depletion when the mitochondrial membrane potential falls below a threshold and the F(1)F(o)-ATP synthase starts hydrolyzing ATP to pump protons out of the mitochondrial matrix. Required to avoid the consumption of cellular ATP when the F(1)F(o)-ATP synthase enzyme acts as an ATP hydrolase. Indirectly acts as a regulator of heme synthesis in erythroid tissues: regulates heme synthesis by modulating the mitochondrial pH and redox potential, allowing FECH to efficiently catalyze the incorporation of iron into protoporphyrin IX to produce heme. Exhibits variability in chain length, mitochondria have distinct pools of protein cleaved after the 24th, 25th, and 26th amino acid. Belongs to the ATPase inhibitor family. NA PE1 1 +NX_Q9UII4 E3 ISG15--protein ligase HERC5 1024 116852 7.71 0 Perinuclear region NA Major E3 ligase for ISG15 conjugation. Acts as a positive regulator of innate antiviral response in cells induced by interferon. Functions as part of the ISGylation machinery that recognizes target proteins in a broad and relatively non-specific manner. Catalyzes ISGylation of IRF3 which results in sustained activation, it attenuates IRF3-PIN1 interaction, which antagonizes IRF3 ubiquitination and degradation, and boosts the antiviral response. Catalyzes ISGylation of influenza A viral NS1 which attenuates virulence; ISGylated NS1 fails to form homodimers and thus to interact with its RNA targets. Catalyzes ISGylation of papillomavirus type 16 L1 protein which results in dominant-negative effect on virus infectivity. Physically associated with polyribosomes, broadly modifies newly synthesized proteins in a cotranslational manner. In an interferon-stimulated cell, newly translated viral proteins are primary targets of ISG15. ISGylated. NA Focal adhesion;Neurotrophin signaling pathway;Insulin signaling pathway;Renal cell carcinoma;Antigen processing: Ubiquitination & Proteasome degradation;ISG15 antiviral mechanism;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Negative regulators of DDX58/IFIH1 signaling PE1 4 +NX_Q9UII5 Zinc finger protein 107 783 90673 9.43 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 7 +NX_Q9UII6 Dual specificity protein phosphatase 13 isoform B 198 22149 9.27 0 NA NA Dual specificity phosphatase that dephosphorylates MAPK8/JNK and MAPK14/p38, but not MAPK1/ERK2, in vitro. Exhibits intrinsic phosphatase activity towards both phospho-seryl/threonyl and -tyrosyl residues, with similar specific activities in vitro. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. NA PE1 10 +NX_Q9UIJ5 Palmitoyltransferase ZDHHC2 367 42022 8.7 4 Membrane NA Palmitoyltransferase specific for GAP43 and DLG4/PSD95. NA Belongs to the DHHC palmitoyltransferase family. Surfactant metabolism PE1 8 +NX_Q9UIJ7 GTP:AMP phosphotransferase AK3, mitochondrial 227 25565 9.15 0 Mitochondrion matrix;Mitochondrion NA Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Has GTP:AMP phosphotransferase and ITP:AMP phosphotransferase activities. NA Belongs to the adenylate kinase family. AK3 subfamily. Pyrimidine metabolism;Factors involved in megakaryocyte development and platelet production PE1 9 +NX_Q9UIK4 Death-associated protein kinase 2 370 42898 6.45 0 Golgi apparatus;Cytoplasm;Autophagosome lumen;Cytoplasmic vesicle NA Is not regulated by calmodulin. It can phosphorylate MYL9. It can induce membrane blebbing and autophagic cell death.;Calcium/calmodulin-dependent serine/threonine kinase involved in multiple cellular signaling pathways that trigger cell survival, apoptosis, and autophagy. Regulates both type I apoptotic and type II autophagic cell death signals, depending on the cellular setting. The former is caspase-dependent, while the latter is caspase-independent and is characterized by the accumulation of autophagic vesicles. Acts as a mediator of anoikis and a suppressor of beta-catenin-dependent anchorage-independent growth of malignant epithelial cells. May play a role in granulocytic maturation (PubMed:17347302). Regulates granulocytic motility by controlling cell spreading and polarization (PubMed:24163421). Autophosphorylation at Ser-318 inhibits its catalytic activity. Dephosphorylated at Ser-318 in response to activated Fas and TNF-alpha receptors. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. DAP kinase subfamily. Pathways in cancer;Bladder cancer;Caspase activation via Dependence Receptors in the absence of ligand PE1 15 +NX_Q9UIK5 Tomoregulin-2 374 41428 5.01 1 Membrane;Secreted NA May be a survival factor for hippocampal and mesencephalic neurons. The shedded form up-regulates cancer cell proliferation, probably by promoting ERK1/2 phosphorylation. A soluble form (TMEFF2-ECD) is produced by proteolytic shedding. This shedding can be induced by phorbol ester or proinflammatory cytokines such as TNFalpha, and is mediated by ADAM17.;N-glycosylated. Contains chondroitin sulfate glycosaminoglycans. Belongs to the tomoregulin family. NA PE1 2 +NX_Q9UIL1 Short coiled-coil protein 159 18045 9 0 trans-Golgi network;Golgi apparatus;Nucleoplasm;Golgi apparatus membrane;Cytosol NA Positive regulator of amino acid starvation-induced autophagy. NA Belongs to the SCOC family. Retrograde transport at the Trans-Golgi-Network PE1 4 +NX_Q9UIL4 Kinesin-like protein KIF25 384 40686 8.61 0 Centrosome NA Minus-end microtubule-dependent motor protein (By similarity). Acts as a negative regulator of centrosome separation required to prevent premature centrosome separation during interphase (PubMed:28263957). Required to maintain a centered nucleus to ensure that the spindle is stably oriented at the onset of mitosis (PubMed:28263957). May also act as a negative regulator of amino acid starvation-induced autophagy (PubMed:22354037). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE2 6 +NX_Q9UIL8 PHD finger protein 11 331 37582 7.87 0 Nucleoplasm;Nucleus membrane;Nucleus NA Positive regulator of Th1-type cytokine gene expression. NA NA NA PE1 13 +NX_Q9UIM3 FK506-binding protein-like 349 38176 5.38 0 Nucleoplasm;Spindle NA May be involved in response to X-ray. Regulates p21 protein stability by binding to Hsp90 and p21. NA NA The role of GTSE1 in G2/M progression after G2 checkpoint PE1 6 +NX_Q9UIQ6 Leucyl-cystinyl aminopeptidase 1025 117349 5.5 1 Secreted;Cell membrane NA Release of an N-terminal amino acid, cleaves before cysteine, leucine as well as other amino acids. Degrades peptide hormones such as oxytocin, vasopressin and angiotensin III, and plays a role in maintaining homeostasis during pregnancy. May be involved in the inactivation of neuronal peptides in the brain. Cleaves Met-enkephalin and dynorphin. Binds angiotensin IV and may be the angiotensin IV receptor in the brain. N-glycosylated.;The pregnancy serum form is derived from the membrane-bound form by proteolytic processing. Belongs to the peptidase M1 family. Renin-angiotensin system;Antigen processing: Ubiquitination & Proteasome degradation;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Endosomal/Vacuolar pathway PE1 5 +NX_Q9UIR0 Butyrophilin-like protein 2 455 50436 4.96 1 Membrane Sarcoidosis 2 Negative regulator of T-cell proliferation. NA Belongs to the immunoglobulin superfamily. BTN/MOG family. Butyrophilin (BTN) family interactions PE2 6 +NX_Q9UIS9 Methyl-CpG-binding domain protein 1 605 66607 9.32 0 Nucleus speckle;Nucleus matrix;Chromosome;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA Can also repress transcription from unmethylated promoters.;Transcriptional repressor that binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binding is abolished by the presence of 7-mG that is produced by DNA damage by methylmethanesulfonate (MMS). Acts as transcriptional repressor and plays a role in gene silencing by recruiting AFT7IP, which in turn recruits factors such as the histone methyltransferase SETDB1. Probably forms a complex with SETDB1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation. Sumoylated with SUMO1 by PIAS1 and PIAS3. Sumoylation affects transcriptional silencing by preventing the interaction with SETDB1. In contrast, sumoylation may increase interaction with AFT7IP. NA SUMOylation of transcription cofactors PE1 18 +NX_Q9UIU6 Homeobox protein SIX4 781 82933 5.45 0 Cytoplasm;Nucleoplasm;Nucleus NA Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a DNA sequence on these target genes and is involved in processes like cell differentiation, cell migration and cell survival. Transactivates gene expression by binding a 5'-[CAT]A[CT][CT][CTG]GA[GAT]-3' motif present in the Trex site and a 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 site of the muscle-specific genes enhancer. Acts cooperatively with EYA proteins to transactivate their target genes through interaction and nuclear translocation of EYA protein. Acts synergistically with SIX1 to regulate target genes involved in formation of various organs, including muscle, kidney, gonad, ganglia, olfactory epithelium and cranial skeleton. Plays a role in several important steps of muscle development. Controls the genesis of hypaxial myogenic progenitors in the dermomyotome by transactivating PAX3 and the delamination and migration of the hypaxial precursors from the ventral lip to the limb buds through the transactivation of PAX3, MET and LBX1. Controls myoblast determination by transactivating MYF5, MYOD1 and MYF6. Controls somitic differentiation in myocyte through MYOG transactivation. Plays a role in synaptogenesis and sarcomere organization by participating in myofiber specialization during embryogenesis by activating fast muscle program in the primary myotome resulting in an up-regulation of fast muscle genes, including ATP2A1, MYL1 and TNNT3. Simultaneously, is also able to activate inhibitors of slow muscle genes, such as SOX6, HRASLS, and HDAC4, thereby restricting the activation of the slow muscle genes. During muscle regeneration, negatively regulates differentiation of muscle satellite cells through down-regulation of MYOG expression. During kidney development regulates the early stages of metanephros development and ureteric bud formation through regulation of GDNF, SALL1, PAX8 and PAX2 expression. Plays a role in gonad development by regulating both testis determination and size determination. In gonadal sex determination, transactivates ZFPM2 by binding a MEF3 consensus sequence, resulting in SRY up-regulation. In gonadal size determination, transactivates NR5A1 by binding a MEF3 consensus sequence resulting in gonadal precursor cell formation regulation. During olfactory development mediates the specification and patterning of olfactory placode through fibroblast growth factor and BMP4 signaling pathways and also regulates epithelial cell proliferation during placode formation. Promotes survival of sensory neurons during early trigeminal gangliogenesis. In the developing dorsal root ganglia, up-regulates SLC12A2 transcription. Regulates early thymus/parathyroid organogenesis through regulation of GCM2 and FOXN1 expression. Forms gustatory papillae during development of the tongue. Also plays a role during embryonic cranial skeleton morphogenesis. NA Belongs to the SIX/Sine oculis homeobox family. NA PE1 14 +NX_Q9UIV1 CCR4-NOT transcription complex subunit 7 285 32745 4.77 0 P-body;Nucleus NA Has 3'-5' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate. Its function seems to be partially redundant with that of CNOT8. Catalytic component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. During miRNA-mediated repression the complex seems also to act as translational repressor during translational initiation. Additional complex functions may be a consequence of its influence on mRNA expression. Associates with members of the BTG family such as TOB1 and BTG2 and is required for their anti-proliferative activity. NA Belongs to the CAF1 family. RNA degradation;Deadenylation of mRNA;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 8 +NX_Q9UIV8 Serpin B13 391 44276 5.48 0 Cytoplasm;Cytosol;Nucleus speckle NA May play a role in the proliferation or differentiation of keratinocytes. NA Belongs to the serpin family. Ov-serpin subfamily. Amoebiasis;RUNX1 regulates transcription of genes involved in differentiation of keratinocytes PE1 18 +NX_Q9UIW0 Ventral anterior homeobox 2 290 30874 9.56 0 Nucleus speckle;Nucleus NA Transcription factor that may function in dorsoventral specification of the forebrain. Regulates the expression of Wnt signaling antagonists including the expression of a truncated TCF7L2 isoform that cannot bind CTNNB1 and acts therefore as a potent dominant-negative Wnt antagonist. Plays a crucial role in eye development and, in particular, in the specification of the ventral optic vesicle (By similarity). May be a regulator of axial polarization in the retina. NA Belongs to the EMX homeobox family. NA PE1 2 +NX_Q9UIW2 Plexin-A1 1896 211067 6.49 1 Nucleoplasm;Cytosol;Cell membrane NA Coreceptor for SEMA3A, SEMA3C, SEMA3F and SEMA6D. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm (By similarity). NA Belongs to the plexin family. Axon guidance;SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion;Sema3A PAK dependent Axon repulsion;CRMPs in Sema3A signaling;Other semaphorin interactions PE1 3 +NX_Q9UIX4 Potassium voltage-gated channel subfamily G member 1 513 57913 5.94 6 Cytoplasmic vesicle;Cell membrane NA Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 (PubMed:19074135). NA Belongs to the potassium channel family. G (TC 1.A.1.2) subfamily. Kv6.1/KCNG1 sub-subfamily. Voltage gated Potassium channels PE1 20 +NX_Q9UIY3 RWD domain-containing protein 2A 292 33893 6.01 0 Cytoplasmic vesicle NA NA NA NA NA PE1 6 +NX_Q9UJ04 Testis-specific Y-encoded-like protein 4 414 45126 8.8 0 NA NA NA NA Belongs to the nucleosome assembly protein (NAP) family. NA PE1 6 +NX_Q9UJ14 Glutathione hydrolase 7 662 70467 4.96 1 Membrane;Cytoplasmic vesicle;Nucleoplasm NA Cleaves glutathione conjugates. NA Belongs to the gamma-glutamyltransferase family. Sulfur metabolism; glutathione metabolism.;Taurine and hypotaurine metabolism;Cyanoamino acid metabolism;Glutathione metabolism;Arachidonic acid metabolism;Metabolic pathways;Aflatoxin activation and detoxification;Glutathione synthesis and recycling PE1 20 +NX_Q9UJ37 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 374 41939 9.38 1 Golgi apparatus membrane NA Catalyzes the transfer of N-acetylneuraminyl groups onto glycan chains in glycoproteins. NA Belongs to the glycosyltransferase 29 family. Protein modification; protein glycosylation.;Sialic acid metabolism;Termination of O-glycan biosynthesis PE1 17 +NX_Q9UJ41 Rab5 GDP/GTP exchange factor 491 56891 6.66 0 Cytoplasm;Recycling endosome;Early endosome;Nucleolus;Cytosol NA Rab effector protein acting as linker between gamma-adaptin, RAB4A or RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Stimulates nucleotide exchange on RAB5A. Can act as a ubiquitin ligase (By similarity). Monoubiquitinated. NA RAB GEFs exchange GTP for GDP on RABs;TBC/RABGAPs PE1 7 +NX_Q9UJ42 Probable G-protein coupled receptor 160 338 39787 8.84 7 Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE2 3 +NX_Q9UJ55 MAGE-like protein 2 1249 132822 9.55 0 Cytoplasm;Early endosome;Nucleus Schaaf-Yang syndrome Probably enhances ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases, possibly through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Acts as a regulator of retrograde transport via its interaction with VPS35. Recruited to retromer-containing endosomes and promotes the formation of 'Lys-63'-linked polyubiquitin chains at 'Lys-220' of WASHC1 together with TRIM27, leading to promote endosomal F-actin assembly (PubMed:23452853). Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Significantly promotes the cytoplasmic accumulation of CLOCK (By similarity). NA NA NA PE1 15 +NX_Q9UJ68 Mitochondrial peptide methionine sulfoxide reductase 235 26132 8.22 0 Cytoplasm;Mitochondrion;Cell membrane;Membrane;Nucleoplasm;Cytosol;Nucleus NA Has an important function as a repair enzyme for proteins that have been inactivated by oxidation. Catalyzes the reversible oxidation-reduction of methionine sulfoxide in proteins to methionine. NA Belongs to the MsrA Met sulfoxide reductase family. Protein repair PE1 8 +NX_Q9UJ70 N-acetyl-D-glucosamine kinase 344 37376 5.82 0 Nucleoplasm;Cytosol NA Converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded. Also has ManNAc kinase activity. NA Belongs to the eukaryotic-type N-acetylglucosamine kinase family. Amino-sugar metabolism; N-acetylneuraminate degradation.;Amino sugar and nucleotide sugar metabolism;Synthesis of UDP-N-acetyl-glucosamine PE1 2 +NX_Q9UJ71 C-type lectin domain family 4 member K 328 36725 8.45 1 Membrane;Cytosol Birbeck granule deficiency Calcium-dependent lectin displaying mannose-binding specificity. Induces the formation of Birbeck granules (BGs); is a potent regulator of membrane superimposition and zippering. Binds to sulfated as well as mannosylated glycans, keratan sulfate (KS) and beta-glucans. Facilitates uptake of antigens and is involved in the routing and/or processing of antigen for presentation to T cells. Major receptor on primary Langerhans cells for Candida species, Saccharomyces species, and Malassezia furfur. Protects against human immunodeficiency virus-1 (HIV-1) infection. Binds to high-mannose structures present on the envelope glycoprotein which is followed by subsequent targeting of the virus to the Birbeck granules leading to its rapid degradation. NA NA Cross-presentation of soluble exogenous antigens (endosomes) PE1 2 +NX_Q9UJ72 Annexin A10 324 37278 5.13 0 Nucleoplasm;Nucleolus;Cytoplasmic vesicle NA NA NA Belongs to the annexin family. NA PE1 4 +NX_Q9UJ78 Zinc finger MYM-type protein 5 669 74817 8.5 0 Golgi apparatus;Nucleoplasm;Nucleus NA Functions as a transcriptional regulator. NA NA NA PE1 13 +NX_Q9UJ83 2-hydroxyacyl-CoA lyase 1 578 63729 7.08 0 Nucleoplasm;Peroxisome;Cytoplasmic vesicle NA Catalyzes a carbon-carbon cleavage reaction; cleaves a 2-hydroxy-3-methylacyl-CoA into formyl-CoA and a 2-methyl-branched fatty aldehyde. NA Belongs to the TPP enzyme family. Lipid metabolism; fatty acid metabolism.;Peroxisome;Alpha-oxidation of phytanate;Peroxisomal protein import PE1 3 +NX_Q9UJ90 Potassium voltage-gated channel subfamily E regulatory beta subunit 5 142 14993 5.9 1 Membrane;Cytosol Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis Potassium channel ancillary subunit that is essential for generation of some native K(+) currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel pore-forming alpha subunits. Functions as an inhibitory beta-subunit of the repolarizing cardiac potassium ion channel KCNQ1. NA Belongs to the potassium channel KCNE family. Phase 3 - rapid repolarisation;Phase 2 - plateau phase PE1 X +NX_Q9UJ94 Putative uncharacterized protein encoded by LINC00527 153 16537 6.04 0 NA NA NA NA NA NA PE5 21 +NX_Q9UJ96 Potassium voltage-gated channel subfamily G member 2 466 51240 9.33 6 Membrane NA Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values. NA Belongs to the potassium channel family. G (TC 1.A.1.2) subfamily. Kv6.2/KCNG2 sub-subfamily. Voltage gated Potassium channels;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion PE1 18 +NX_Q9UJ98 Cohesin subunit SA-3 1225 139034 5.23 0 Centromere;Nucleus;Chromosome Premature ovarian failure 8 Meiosis specific component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I. Phosphorylated. Belongs to the SCC3 family. Oocyte meiosis;Meiotic synapsis PE1 7 +NX_Q9UJ99 Cadherin-22 828 89091 4.62 1 Cell membrane NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. PB-cadherins may have a role in the morphological organization of pituitary gland and brain tissues (By similarity). NA NA NA PE1 20 +NX_Q9UJA2 Cardiolipin synthase (CMP-forming) 301 32593 9.73 5 Mitochondrion inner membrane NA Catalyzes the synthesis of cardiolipin (CL) (diphosphatidylglycerol) by specifically transferring a phosphatidyl group from CDP-diacylglycerol to phosphatidylglycerol (PG). CL is a key phospholipid in mitochondrial membranes and plays important roles in maintaining the functional integrity and dynamics of mitochondria under both optimal and stress conditions. NA Belongs to the CDP-alcohol phosphatidyltransferase class-I family. Glycerophospholipid metabolism;Metabolic pathways;Acyl chain remodelling of PG;Synthesis of CL PE1 20 +NX_Q9UJA3 DNA helicase MCM8 840 93697 7.82 0 Nucleoplasm;Nucleus;Chromosome Premature ovarian failure 10 Component of the MCM8-MCM9 complex, a complex involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross-links (ICLs) by homologous recombination (HR) (PubMed:23401855). Required for DNA resection by the MRE11-RAD50-NBN/NBS1 (MRN) complex by recruiting the MRN complex to the repair site and by promoting the complex nuclease activity (PubMed:26215093). Probably by regulating the localization of the MNR complex, indirectly regulates the recruitment of downstream effector RAD51 to DNA damage sites including DBSs and ICLs (PubMed:23401855). The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression (PubMed:23401855). However, may play a non-essential for DNA replication: may be involved in the activation of the prereplicative complex (pre-RC) during G(1) phase by recruiting CDC6 to the origin recognition complex (ORC) (PubMed:15684404). Probably by regulating HR, plays a key role during gametogenesis (By similarity). Stabilizes MCM9 protein (PubMed:23401855, PubMed:26215093). NA Belongs to the MCM family. CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;Activation of ATR in response to replication stress;CDC6 association with the ORC:origin complex;Assembly of the pre-replicative complex;Activation of the pre-replicative complex;E2F-enabled inhibition of pre-replication complex formation;Unwinding of DNA PE1 20 +NX_Q9UJA5 tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6 497 55799 7.18 0 Nucleoplasm;Cell junction;Nucleus NA Substrate-binding subunit of tRNA (adenine-N(1)-)-methyltransferase, which catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in initiator methionyl-tRNA (PubMed:16043508). Together with the TRMT61A catalytic subunit, part of a mRNA N(1)-methyltransferase complex that mediates methylation of adenosine residues at the N(1) position of a small subset of mRNAs: N(1) methylation takes place in tRNA T-loop-like structures of mRNAs and is only present at low stoichiometries (PubMed:29107537, PubMed:29072297). NA Belongs to the TRM6/GCD10 family. tRNA modification in the nucleus and cytosol PE1 20 +NX_Q9UJA9 Ectonucleotide pyrophosphatase/phosphodiesterase family member 5 477 54666 5.94 1 Membrane;Nucleoplasm;Cytosol;Secreted NA Can hydrolyze NAD but cannot hydrolyze nucleotide di- and triphosphates. Lacks lysopholipase D activity. May play a role in neuronal cell communication. N-glycosylated. Belongs to the nucleotide pyrophosphatase/phosphodiesterase family. NA PE1 6 +NX_Q9UJC3 Protein Hook homolog 1 728 84648 5.09 0 Cytoplasm;Cytoskeleton NA Required for spermatid differentiation. Probably involved in the positioning of the microtubules of the manchette and the flagellum in relation to the membrane skeleton (By similarity). Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex) (PubMed:18799622). NA Belongs to the hook family. NA PE1 1 +NX_Q9UJC5 SH3 domain-binding glutamic acid-rich-like protein 2 107 12326 6.3 0 Nucleoplasm;Nucleus NA NA NA Belongs to the SH3BGR family. NA PE1 6 +NX_Q9UJD0 Regulating synaptic membrane exocytosis protein 3 308 32796 9.38 0 Nucleolus;Mitochondrion;Synapse NA Regulates synaptic membrane exocytosis. NA NA NA PE1 1 +NX_Q9UJF2 Ras GTPase-activating protein nGAP 1139 128558 8.52 0 Focal adhesion;Cell membrane NA Inhibitory regulator of the Ras-cyclic AMP pathway. NA NA Regulation of RAS by GAPs;Signaling by RAS mutants PE1 1 +NX_Q9UJG1 Motile sperm domain-containing protein 1 213 24086 7.66 2 Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum membrane;Golgi apparatus membrane NA Plays a role in differentiation and/or proliferation of mesenchymal stem cells. Proposed to be involved in epithelial-to-mesenchymal transition (EMT). However, another study suggests that it is not required for EMT or stem cell self-renewal and acts during later stages of differentiation. NA NA NA PE1 X +NX_Q9UJH8 Meteorin 293 31207 8.47 0 Nucleoplasm;Cytosol;Secreted;Nucleus membrane NA Involved in both glial cell differentiation and axonal network formation during neurogenesis. Promotes astrocyte differentiation and transforms cerebellar astrocytes into radial glia. Also induces axonal extension in small and intermediate neurons of sensory ganglia by activating nearby satellite glia (By similarity). NA Belongs to the meteorin family. NA PE1 16 +NX_Q9UJJ7 RNA pseudouridylate synthase domain-containing protein 1 312 34756 6.6 0 Golgi apparatus;Nucleoplasm;Cytosol;Cell junction NA NA NA Belongs to the pseudouridine synthase RluA family. NA PE1 16 +NX_Q9UJJ9 N-acetylglucosamine-1-phosphotransferase subunit gamma 305 33974 6.47 0 Golgi apparatus;Endoplasmic reticulum;Cytosol;Secreted Mucolipidosis type III complementation group C Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine-1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors. Cys-245 mediates the formation of the interchain disulfide bond for formation of the homodimer. Cys-142, Cys-157 and Cys-169 are involved in intramolecular disulfide bonds formation (By similarity). NA Lysosome PE1 16 +NX_Q9UJK0 Ribosome biogenesis protein TSR3 homolog 312 33596 6.48 0 Golgi apparatus;Cytosol NA Probable pre-rRNA processing protein involved in ribosome biogenesis. NA Belongs to the TSR3 family. rRNA modification in the nucleus and cytosol PE1 16 +NX_Q9UJL9 Zinc finger protein 69 homolog B 534 61481 9.23 0 Nucleoplasm;Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 1 +NX_Q9UJM3 ERBB receptor feedback inhibitor 1 462 50560 8.38 0 Cytoplasm;Cytosol;Nucleus;Cell membrane NA Negative regulator of EGFR signaling in skin morphogenesis. Acts as a negative regulator for several EGFR family members, including ERBB2, ERBB3 and ERBB4. Inhibits EGFR catalytic activity by interfering with its dimerization. Inhibits autophosphorylation of EGFR, ERBB2 and ERBB4. Important for normal keratinocyte proliferation and differentiation. Plays a role in modulating the response to steroid hormones in the uterus. Required for normal response to progesterone in the uterus and for fertility. Mediates epithelial estrogen responses in the uterus by regulating ESR1 levels and activation. Important for regulation of endometrium cell proliferation. Important for normal prenatal and perinatal lung development (By similarity). NA Belongs to the MIG6 family. NA PE1 1 +NX_Q9UJM8 Hydroxyacid oxidase 1 370 40924 8.2 0 Peroxisome NA Has 2-hydroxyacid oxidase activity. Most active on the 2-carbon substrate glycolate, but is also active on 2-hydroxy fatty acids, with high activity towards 2-hydroxy palmitate and 2-hydroxy octanoate. NA Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family. Organic acid metabolism; glycolate degradation; 3-phospho-D-glycerate from glycolate: step 1/4.;Glyoxylate and dicarboxylate metabolism;Metabolic pathways;Peroxisome;Glyoxylate metabolism and glycine degradation;Peroxisomal protein import PE1 20 +NX_Q9UJN7 Zinc finger protein 391 358 40659 8.94 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 6 +NX_Q9UJP4 Kelch-like protein 21 597 66617 5.17 0 Spindle;Centrosome NA Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for efficient chromosome alignment and cytokinesis. The BCR(KLHL21) E3 ubiquitin ligase complex regulates localization of the chromosomal passenger complex (CPC) from chromosomes to the spindle midzone in anaphase and mediates the ubiquitination of AURKB. Ubiquitination of AURKB by BCR(KLHL21) E3 ubiquitin ligase complex may not lead to its degradation by the proteasome. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 1 +NX_Q9UJQ1 Lysosome-associated membrane glycoprotein 5 280 31472 5.99 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;Cell membrane;Endosome membrane;Recycling endosome;Growth cone membrane;Centriolar satellite;Cytoplasmic vesicle membrane;Synaptic vesicle membrane;Early endosome membrane;Cytosol;Spindle;Dendrite NA Plays a role in short-term synaptic plasticity in a subset of GABAergic neurons in the brain. Glycosylated. Belongs to the LAMP family. NA PE1 20 +NX_Q9UJQ4 Sal-like protein 4 1053 112231 7.2 0 Nucleoplasm;Cytoplasm;Nucleus Oculootoradial syndrome;Duane-radial ray syndrome Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells. Sumoylation with both SUMO1 and SUMO2 regulates the stability, subcellular localization, transcriptional activity, and may reduce interaction with POU5F1/OCT4.;Exists primarily as a ubiquitinated form. Belongs to the sal C2H2-type zinc-finger protein family. Transcriptional regulation of pluripotent stem cells;POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation;Regulation of PTEN gene transcription PE1 20 +NX_Q9UJQ7 SCP2 sterol-binding domain-containing protein 1 156 17663 9.33 0 NA NA NA NA NA NA PE2 20 +NX_Q9UJS0 Calcium-binding mitochondrial carrier protein Aralar2 675 74176 8.79 6 Mitochondrion inner membrane;Mitochondrion Citrullinemia 2;Cholestasis, neonatal intrahepatic, caused by citrin deficiency Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane (PubMed:11566871, PubMed:25410934). May have a function in the urea cycle (PubMed:11566871). NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Mitochondrial protein import;Gluconeogenesis;Aspartate and asparagine metabolism PE1 7 +NX_Q9UJT0 Tubulin epsilon chain 475 52932 6.17 0 Centrosome NA NA NA Belongs to the tubulin family. NA PE1 6 +NX_Q9UJT1 Tubulin delta chain 453 51034 6.35 0 Cytoplasm;Centriole;Cilium;Nucleoplasm;Cytosol;Nucleus NA Acts as a positive regulator of hedgehog signaling and regulates ciliary function. NA Belongs to the tubulin family. NA PE1 17 +NX_Q9UJT2 Testis-specific serine kinase substrate 592 65050 5.7 0 Centriole NA May play a role in testicular physiology, most probably in the process of spermatogenesis or spermatid development. Phosphorylated on serine residue(s) by STK22A/TSSK1 and STK22B/TSSK2.;TSKS is phosphorylated by TSSK2 NA NA PE1 19 +NX_Q9UJT9 F-box/LRR-repeat protein 7 491 54575 8.67 0 Centrosome NA Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of AURKA during mitosis, causing mitotic arrest. NA Belongs to the FBXL7 family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation PE1 5 +NX_Q9UJU2 Lymphoid enhancer-binding factor 1 399 44201 6.9 0 Nucleoplasm;Nucleus NA Lacks the CTNNB1 interaction domain and may be an antagonist for Wnt signaling.;Transcriptionally activates the fibronectin promoter, binds to and represses transcription from the E-cadherin promoter in a CTNNB1-independent manner, and is involved in reducing cellular aggregation and increasing cell migration of pancreatic cancer cells.;Participates in the Wnt signaling pathway. Activates transcription of target genes in the presence of CTNNB1 and EP300. May play a role in hair cell differentiation and follicle morphogenesis. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by LEF1 and CTNNB1. Regulates T-cell receptor alpha enhancer function. Binds DNA in a sequence-specific manner. PIAG antagonizes both Wnt-dependent and Wnt-independent activation by LEF1 (By similarity).;Transcriptionally activates MYC and CCND1 expression and enhances proliferation of pancreatic tumor cells. Phosphorylated at Thr-155 and/or Ser-166 by NLK. Phosphorylation by NLK at these sites represses LEF1-mediated transcriptional activation of target genes of the canonical Wnt signaling pathway. Belongs to the TCF/LEF family. Wnt signaling pathway;Adherens junction;Melanogenesis;Pathways in cancer;Colorectal cancer;Endometrial cancer;Prostate cancer;Thyroid cancer;Basal cell carcinoma;Acute myeloid leukemia;Arrhythmogenic right ventricular cardiomyopathy (ARVC);Formation of the beta-catenin:TCF transactivating complex;Ca2+ pathway;Deactivation of the beta-catenin transactivating complex;Binding of TCF/LEF:CTNNB1 to target gene promoters;Repression of WNT target genes;RUNX3 regulates WNT signaling;Transcriptional regulation of granulopoiesis PE1 4 +NX_Q9UJU3 Zinc finger protein 112 913 105842 8.6 0 Centrosome;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9UJU5 Forkhead box protein D3 478 47630 6.01 0 Nucleus Autoimmune disease 1 Binds to the consensus sequence 5'-A[AT]T[AG]TTTGTTT-3' and acts as a transcriptional repressor. Also acts as a transcriptional activator. Promotes development of neural crest cells from neural tube progenitors. Restricts neural progenitor cells to the neural crest lineage while suppressing interneuron differentiation. Required for maintenance of pluripotent cells in the pre-implantation and peri-implantation stages of embryogenesis. NA NA POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation PE1 1 +NX_Q9UJU6 Drebrin-like protein 430 48207 5.02 0 Cell cortex;Cell membrane;Neuron projection;Early endosome;Perikaryon;Podosome;Golgi apparatus membrane;Lamellipodium;Nucleoplasm;Postsynaptic density;Synapse;Clathrin-coated vesicle membrane;Ruffle;Cytosol;Dendrite;Cytoskeleton NA Adapter protein that binds F-actin and DNM1, and thereby plays a role in receptor-mediated endocytosis. Plays a role in the reorganization of the actin cytoskeleton, formation of cell projections, such as neurites, in neuron morphogenesis and synapse formation via its interaction with WASL and COBL. Does not bind G-actin and promote actin polymerization by itself. Required for the formation of organized podosome rosettes (By similarity). May act as a common effector of antigen receptor-signaling pathways in leukocytes. Acts as a key component of the immunological synapse that regulates T-cell activation by bridging TCRs and the actin cytoskeleton to gene activation and endocytic processes. Degraded by caspases during apoptosis.;DBNL is phosphorylated by BLK (Phosphotyrosine:PTM-0255) Belongs to the ABP1 family. Caspase-mediated cleavage of cytoskeletal proteins;Neurexins and neuroligins;Neutrophil degranulation PE1 7 +NX_Q9UJV3 Probable E3 ubiquitin-protein ligase MID2 735 83210 7.24 0 Cytoplasm;Cytoskeleton Mental retardation, X-linked 101 May play a role in microtubule stabilization. Phosphorylated on serine and threonine residues. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination. PE1 X +NX_Q9UJV8 Purine-rich element-binding protein gamma 347 39556 9.57 0 Nucleoplasm;Nucleus;Nucleolus;Cell membrane NA NA NA Belongs to the PUR DNA-binding protein family. NA PE1 8 +NX_Q9UJV9 Probable ATP-dependent RNA helicase DDX41 622 69838 6.4 0 Nucleoplasm;Nucleus;Nucleolus Myeloproliferative/lymphoproliferative neoplasms, familial Probable ATP-dependent RNA helicase. Is required during post-transcriptional gene expression. May be involved in pre-mRNA splicing. NA Belongs to the DEAD box helicase family. DDX41 subfamily. STING mediated induction of host immune responses;Regulation of innate immune responses to cytosolic DNA;IRF3-mediated induction of type I IFN PE1 5 +NX_Q9UJW0 Dynactin subunit 4 460 52337 7.1 0 Cell cortex;Sarcomere;Nucleoplasm;Stress fiber;Centrosome;Cytoskeleton NA Could have a dual role in dynein targeting and in ACTR1A/Arp1 subunit of dynactin pointed-end capping. Could be involved in ACTR1A pointed-end binding and in additional roles in linking dynein and dynactin to the cortical cytoskeleton. NA Belongs to the dynactin subunit 4 family. Vasopressin-regulated water reabsorption;Huntington's disease;MHC class II antigen presentation;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 5 +NX_Q9UJW2 Tubulointerstitial nephritis antigen 476 54605 8.31 0 Basement membrane NA Mediates adhesion of proximal tubule epithelial cells via integrins alpha3-beta1 and alphaV-beta3. This is a non catalytic peptidase C1 family protein. It has been suggested that the active SMB domain may be permitted considerable disulfide bond heterogeneity or variability, thus 2 alternate disulfide patterns based on 3D structures are described with 1 disulfide bond conserved in both. Belongs to the peptidase C1 family. NA PE1 6 +NX_Q9UJW3 DNA (cytosine-5)-methyltransferase 3-like 386 43583 5.59 0 Nucleus speckle;Nucleus NA Catalytically inactive regulatory factor of DNA methyltransferases that can either promote or inhibit DNA methylation depending on the context (By similarity). Essential for the function of DNMT3A and DNMT3B: activates DNMT3A and DNMT3B by binding to their catalytic domain (PubMed:17687327). Acts by accelerating the binding of DNA and S-adenosyl-L-methionine (AdoMet) to the methyltransferases and dissociates from the complex after DNA binding to the methyltransferases (PubMed:17687327). Recognizes unmethylated histone H3 lysine 4 (H3K4me0) and induces de novo DNA methylation by recruitment or activation of DNMT3 (PubMed:17687327). Plays a key role in embryonic stem cells and germ cells (By similarity). In germ cells, required for the methylation of imprinted loci together with DNMT3A (By similarity). In male germ cells, specifically required to methylate retrotransposons, preventing their mobilization (By similarity). Plays a key role in embryonic stem cells (ESCs) by acting both as an positive and negative regulator of DNA methylation (By similarity). While it promotes DNA methylation of housekeeping genes together with DNMT3A and DNMT3B, it also acts as an inhibitor of DNA methylation at the promoter of bivalent genes (By similarity). Interacts with the EZH2 component of the PRC2/EED-EZH2 complex, preventing interaction of DNMT3A and DNMT3B with the PRC2/EED-EZH2 complex, leading to maintain low methylation levels at the promoters of bivalent genes (By similarity). Promotes differentiation of ESCs into primordial germ cells by inhibiting DNA methylation at the promoter of RHOX5, thereby activating its expression (By similarity). NA NA Cysteine and methionine metabolism;Metabolic pathways;DNA methylation PE1 21 +NX_Q9UJW7 Zinc finger protein 229 825 93707 8.88 0 Cytoplasmic vesicle;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q9UJW8 Zinc finger protein 180 692 79111 8.04 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9UJW9 SERTA domain-containing protein 3 196 21769 4.56 0 Nucleus;Nucleolus NA Strong transcriptional coactivator. NA NA NA PE1 19 +NX_Q9UJX0 Oxidative stress-induced growth inhibitor 1 477 51992 6.63 0 Nucleoplasm;Cytosol NA Regulates the differentiation and proliferation through the regulation of cell death. NA Belongs to the OKL38 family. NA PE1 16 +NX_Q9UJX2 Cell division cycle protein 23 homolog 597 68834 6.59 0 Cytoplasm;Nucleus NA Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Phosphorylated. Phosphorylation on Thr-562 occurs specifically during mitosis. Belongs to the APC8/CDC23 family. Protein modification; protein ubiquitination.;Cell cycle;Oocyte meiosis;Ubiquitin mediated proteolysis;Progesterone-mediated oocyte maturation;HTLV-I infection;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;CDK-mediated phosphorylation and removal of Cdc6;Antigen processing: Ubiquitination & Proteasome degradation;Senescence-Associated Secretory Phenotype (SASP);Autodegradation of Cdh1 by Cdh1:APC/C;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of Cyclin B;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;APC/C:Cdc20 mediated degradation of mitotic proteins;Phosphorylation of the APC/C;APC-Cdc20 mediated degradation of Nek2A PE1 5 +NX_Q9UJX3 Anaphase-promoting complex subunit 7 599 66855 5.45 0 Nucleoplasm;Cytosol NA Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. NA Belongs to the APC7 family. Protein modification; protein ubiquitination.;Cell cycle;Oocyte meiosis;Ubiquitin mediated proteolysis;Progesterone-mediated oocyte maturation;HTLV-I infection;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;CDK-mediated phosphorylation and removal of Cdc6;Antigen processing: Ubiquitination & Proteasome degradation;Senescence-Associated Secretory Phenotype (SASP);Autodegradation of Cdh1 by Cdh1:APC/C;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of Cyclin B;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;APC/C:Cdc20 mediated degradation of mitotic proteins;Phosphorylation of the APC/C;APC-Cdc20 mediated degradation of Nek2A PE1 12 +NX_Q9UJX4 Anaphase-promoting complex subunit 5 755 85077 6.4 0 Nucleoplasm NA Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. NA Belongs to the APC5 family. Protein modification; protein ubiquitination.;Cell cycle;Oocyte meiosis;Ubiquitin mediated proteolysis;Progesterone-mediated oocyte maturation;HTLV-I infection;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;CDK-mediated phosphorylation and removal of Cdc6;Antigen processing: Ubiquitination & Proteasome degradation;Senescence-Associated Secretory Phenotype (SASP);Autodegradation of Cdh1 by Cdh1:APC/C;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of Cyclin B;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;APC/C:Cdc20 mediated degradation of mitotic proteins;Phosphorylation of the APC/C;APC-Cdc20 mediated degradation of Nek2A PE1 12 +NX_Q9UJX5 Anaphase-promoting complex subunit 4 808 92116 5.36 0 Cytoskeleton NA Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. NA Belongs to the APC4 family. Protein modification; protein ubiquitination.;Cell cycle;Oocyte meiosis;Ubiquitin mediated proteolysis;Progesterone-mediated oocyte maturation;HTLV-I infection;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;CDK-mediated phosphorylation and removal of Cdc6;Antigen processing: Ubiquitination & Proteasome degradation;Senescence-Associated Secretory Phenotype (SASP);Autodegradation of Cdh1 by Cdh1:APC/C;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of Cyclin B;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;APC/C:Cdc20 mediated degradation of mitotic proteins;Phosphorylation of the APC/C;APC-Cdc20 mediated degradation of Nek2A PE1 4 +NX_Q9UJX6 Anaphase-promoting complex subunit 2 822 93828 5.12 0 Nucleoplasm NA Together with the RING-H2 protein ANAPC11, constitutes the catalytic component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. The CDC20-APC/C complex positively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. CDC20-APC/C-induced degradation of NEUROD2 drives presynaptic differentiation. NA Belongs to the cullin family. Protein modification; protein ubiquitination.;Cell cycle;Oocyte meiosis;Ubiquitin mediated proteolysis;Progesterone-mediated oocyte maturation;HTLV-I infection;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;CDK-mediated phosphorylation and removal of Cdc6;Antigen processing: Ubiquitination & Proteasome degradation;Senescence-Associated Secretory Phenotype (SASP);Autodegradation of Cdh1 by Cdh1:APC/C;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of Cyclin B;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;APC/C:Cdc20 mediated degradation of mitotic proteins;Phosphorylation of the APC/C;APC-Cdc20 mediated degradation of Nek2A PE1 9 +NX_Q9UJY1 Heat shock protein beta-8 196 21604 5 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol Neuronopathy, distal hereditary motor, 2A;Charcot-Marie-Tooth disease 2L Displays temperature-dependent chaperone activity. NA Belongs to the small heat shock protein (HSP20) family. HSF1-dependent transactivation PE1 12 +NX_Q9UJY4 ADP-ribosylation factor-binding protein GGA2 613 67150 6.13 0 Early endosome membrane;Golgi apparatus;trans-Golgi network membrane;Endosome membrane NA Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (DXXLL) motif (PubMed:10747088). Mediates export of the GPCR receptor ADRA2B to the cell surface (PubMed:27901063). Regulates retrograde transport of phosphorylated form of BACE1 from endosomes to the trans-Golgi network (PubMed:15615712). Ubiquitinated. Belongs to the GGA protein family. Lysosome;Amyloid fiber formation;TBC/RABGAPs PE1 16 +NX_Q9UJY5 ADP-ribosylation factor-binding protein GGA1 639 70384 5.18 0 Golgi apparatus;Endosome membrane;trans-Golgi network membrane;Nucleoplasm;Early endosome membrane;Cytoplasmic vesicle NA Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (DXXLL) motif (PubMed:11301005, PubMed:15886016). Mediates export of the GPCR receptor ADRA2B to the cell surface (PubMed:27901063). Required for targeting PKD1:PKD2 complex from the trans-Golgi network to the cilium membrane (By similarity). Regulates retrograde transport of proteins such as phosphorylated form of BACE1 from endosomes to the trans-Golgi network (PubMed:15886016, PubMed:15615712). Ubiquitinated.;Phosphorylated by CK2 and dephosphorylated by PP2A. Phosphorylation of GGA1 allows the internal DXXLL motif to bind the VHS domain and to inhibit the recognition of cargo signals. Belongs to the GGA protein family. Lysosome;Amyloid fiber formation;TBC/RABGAPs PE1 22 +NX_Q9UJZ1 Stomatin-like protein 2, mitochondrial 356 38534 6.87 0 Mitochondrion;Cell membrane;Mitochondrion intermembrane space;Cytosol;Mitochondrion inner membrane;Membrane raft;Cytoskeleton NA Mitochondrial protein that probably regulates the biogenesis and the activity of mitochondria. Stimulates cardiolipin biosynthesis, binds cardiolipin-enriched membranes where it recruits and stabilizes some proteins including prohibitin and may therefore act in the organization of functional microdomains in mitochondrial membranes. Through regulation of the mitochondrial function may play a role into several biological processes including cell migration, cell proliferation, T-cell activation, calcium homeostasis and cellular response to stress. May play a role in calcium homeostasis through negative regulation of calcium efflux from mitochondria. Required for mitochondrial hyperfusion a pro-survival cellular response to stress which results in increased ATP production by mitochondria. May also regulate the organization of functional domains at the plasma membrane and play a role in T-cell activation through association with the T-cell receptor signaling complex and its regulation. Hyperphosphorylated at Ser-17 in some patients with monoclonal gammopathy of undetermined significance (MGUS), multiple myeloma (MM) and Waldenstrom macroglobulinemia due to impaired dephosphorylation by PP2A. Belongs to the band 7/mec-2 family. Processing of SMDT1 PE1 9 +NX_Q9UK00 Uncharacterized protein C3orf18 162 17468 5.36 1 Membrane;Cytosol NA NA NA NA NA PE1 3 +NX_Q9UK05 Growth/differentiation factor 2 429 47320 6.03 0 Secreted Telangiectasia, hereditary hemorrhagic, 5 Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG. A reversible disulfide bond can be formed between the two subunits in the homodimer; this has no effect on GDF2 activity. Belongs to the TGF-beta family. Signaling by BMP PE1 10 +NX_Q9UK08 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8 70 7841 6.55 0 Cell membrane NA Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. NA Belongs to the G protein gamma family. Chemokine signaling pathway;Glutamatergic synapse;Cholinergic synapse;GABAergic synapse;Dopaminergic synapse;G alpha (i) signalling events;G alpha (q) signalling events;G alpha (s) signalling events;G beta:gamma signalling through PI3Kgamma;G alpha (12/13) signalling events;Activation of G protein gated Potassium channels;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Vasopressin regulates renal water homeostasis via Aquaporins;Glucagon signaling in metabolic regulation;G-protein activation;ADP signalling through P2Y purinoceptor 12;Prostacyclin signalling through prostacyclin receptor;Adrenaline,noradrenaline inhibits insulin secretion;Ca2+ pathway;G beta:gamma signalling through PLC beta;ADP signalling through P2Y purinoceptor 1;G alpha (z) signalling events;Glucagon-type ligand receptors;Thromboxane signalling through TP receptor;Thrombin signalling through proteinase activated receptors (PARs);Presynaptic function of Kainate receptors;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Extra-nuclear estrogen signaling;G beta:gamma signalling through BTK;G beta:gamma signalling through CDC42 PE1 19 +NX_Q9UK10 Zinc finger protein 225 706 82471 9.18 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9UK11 Zinc finger protein 223 482 55763 9.04 0 Nucleoplasm;Mitochondrion;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9UK12 Zinc finger protein 222 451 52484 8.96 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9UK13 Zinc finger protein 221 617 71197 8.8 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9UK17 Potassium voltage-gated channel subfamily D member 3 655 73451 8.56 6 Dendrite;Sarcolemma;Cell membrane Brugada syndrome 9;Spinocerebellar ataxia 19 Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits. Regulated through phosphorylation at Ser-569 by CaMK2D. Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.3/KCND3 sub-subfamily. Voltage gated Potassium channels;Phase 1 - inactivation of fast Na+ channels PE1 1 +NX_Q9UK22 F-box only protein 2 296 33328 4.29 0 Microsome membrane;Cytoplasm;Cytosol;Nucleoplasm NA Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Involved in the endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranslocated into the cytosol and promoting their ubiquitination and subsequent degradation. Prevents formation of cytosolic aggregates of unfolded glycoproteins that have been retrotranslocated into the cytosol. Able to recognize and bind denatured glycoproteins, preferentially those of the high-mannose type (By similarity). NA NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 1 +NX_Q9UK23 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 515 56073 6.15 1 Golgi stack membrane;trans-Golgi network NA Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose moieties, which are formed in the first step. Also hydrolyzes UDP-GlcNAc, a sugar donor for Golgi N-acetylglucosaminyltransferases. The precursor is cleaved and activated in the trans-Golgi network by a furin endopeptidase. NA Protein modification; protein glycosylation.;Lysosome PE1 16 +NX_Q9UK28 Transmembrane protein 59-like 342 37619 6.11 1 Nucleoplasm;Cytoskeleton;Golgi apparatus membrane NA Modulates the O-glycosylation and complex N-glycosylation steps occurring during the Golgi maturation of APP. Inhibits APP transport to the cell surface and further shedding. NA Belongs to the TMEM59 family. NA PE1 19 +NX_Q9UK32 Ribosomal protein S6 kinase alpha-6 745 83872 5.92 0 Mitochondrion;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Constitutively active serine/threonine-protein kinase that exhibits growth-factor-independent kinase activity and that may participate in p53/TP53-dependent cell growth arrest signaling and play an inhibitory role during embryogenesis. Phosphorylated at Ser-232, Ser-372, and Ser-389 in serum-starved cells. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily. MAPK signaling pathway;Oocyte meiosis;mTOR signaling pathway;Long-term potentiation;Neurotrophin signaling pathway;Progesterone-mediated oocyte maturation;Recycling pathway of L1;CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling;RSK activation PE1 X +NX_Q9UK33 Zinc finger protein 580 172 18756 10.13 0 Nucleoplasm;Nucleus NA Involved in the regulation of endothelial cell proliferation and migration. Mediates H(2)O(2)-induced leukocyte chemotaxis by elevating interleukin-8 production and may play a role in inflammation. May be involved in transcriptional regulation. NA NA NA PE1 19 +NX_Q9UK39 Nocturnin 431 48196 6.85 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cytosol;Perinuclear region;Nucleus NA Phosphatase which catalyzes the conversion of NADP(+) to NAD(+) and of NADPH to NADH (PubMed:31147539). Shows a small preference for NADPH over NADP(+) (PubMed:31147539). Represses translation and promotes degradation of target mRNA molecules (PubMed:29860338). Plays an important role in post-transcriptional regulation of metabolic genes under circadian control (By similarity). Exerts a rhythmic post-transcriptional control of genes necessary for metabolic functions including nutrient absorption, glucose/insulin sensitivity, lipid metabolism, adipogenesis, inflammation and osteogenesis (By similarity). Plays an important role in favoring adipogenesis over osteoblastogenesis and acts as a key regulator of the adipogenesis/osteogenesis balance (By similarity). Promotes adipogenesis by facilitating PPARG nuclear translocation which activates its transcriptional activity (By similarity). Regulates circadian expression of NOS2 in the liver and negatively regulates the circadian expression of IGF1 in the bone (By similarity). Critical for proper development of early embryos (By similarity). NA Belongs to the CCR4/nocturin family. BMAL1:CLOCK,NPAS2 activates circadian gene expression PE1 4 +NX_Q9UK41 Vacuolar protein sorting-associated protein 28 homolog 221 25425 5.37 0 Late endosome membrane;Cell membrane NA Component of the ESCRT-I complex, a regulator of vesicular trafficking process. NA Belongs to the VPS28 family. Endocytosis;Budding and maturation of HIV virion;Membrane binding and targetting of GAG proteins;Endosomal Sorting Complex Required For Transport (ESCRT);Microautophagy PE1 8 +NX_Q9UK45 U6 snRNA-associated Sm-like protein LSm7 103 11602 5.1 0 Nucleus;Nucleolus NA Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320). NA Belongs to the snRNP Sm proteins family. RNA degradation;Spliceosome;mRNA Splicing - Major Pathway;mRNA decay by 5' to 3' exoribonuclease PE1 19 +NX_Q9UK53 Inhibitor of growth protein 1 422 46738 9.28 0 Nucleoplasm;Cytosol;Nucleus Squamous cell carcinoma of the head and neck Cooperates with p53/TP53 in the negative regulatory pathway of cell growth by modulating p53-dependent transcriptional activation. Implicated as a tumor suppressor gene. NA Belongs to the ING family. NA PE1 13 +NX_Q9UK55 Protein Z-dependent protease inhibitor 444 50707 8.28 0 Nucleoplasm;Cytosol;Secreted NA Inhibits activity of the coagulation protease factor Xa in the presence of PROZ, calcium and phospholipids. Also inhibits factor XIa in the absence of cofactors. Phosphorylated by FAM20C in the extracellular medium. Belongs to the serpin family. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 14 +NX_Q9UK58 Cyclin-L1 526 59634 10.71 0 Nucleoplasm;Nucleus speckle;Nucleus NA Involved in pre-mRNA splicing. Functions in association with cyclin-dependent kinases (CDKs) (PubMed:18216018). Inhibited by the CDK-specific inhibitor CDKN1A/p21 (PubMed:11980906). May play a role in the regulation of RNA polymerase II (pol II). May be a candidate proto-oncogene in head and neck squamous cell carcinomas (HNSCC) (PubMed:12414649, PubMed:15700036). NA Belongs to the cyclin family. Cyclin L subfamily. NA PE1 3 +NX_Q9UK59 Lariat debranching enzyme 544 61555 5.25 0 Nucleoplasm;Nucleus NA Cleaves the 2'-5' phosphodiester linkage at the branch point of lariat intron pre-mRNAs after splicing and converts them into linear molecules that are subsequently degraded. It thereby facilitates ribonucleotide turnover. It may also participate in retrovirus replication via an RNA lariat intermediate in cDNA synthesis. NA Belongs to the lariat debranching enzyme family. NA PE1 3 +NX_Q9UK61 Protein TASOR 1670 189032 5.55 0 Nucleoplasm;Nucleus;Chromosome NA Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression (PubMed:26022416, PubMed:28581500). The HUSH complex is recruited to genomic loci rich in H3K9me3 and is required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3, as well as MORC2 (PubMed:26022416, PubMed:28581500). Also represses L1 retrotransposons in collaboration with MORC2 and, probably, SETDB1, the silencing is dependent of repressive epigenetic modifications, such as H3K9me3 mark. Silencing events often occur within introns of transcriptionally active genes, and lead to the down-regulation of host gene expression (PubMed:29211708). The HUSH complex is also involved in the silencing of unintegrated retroviral DNA by being recruited by ZNF638: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed (PubMed:30487602). NA Belongs to the TASOR family. NA PE1 3 +NX_Q9UK73 Protein fem-1 homolog B 627 70264 6.14 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate recognition subunit. Involved in apoptosis by acting as a death receptor-associated protein that mediates apoptosis. Also involved in glucose homeostasis in pancreatic islet. Functions as an adapter/mediator in replication stress-induced signaling that leads to the activation of CHEK1. NA Belongs to the fem-1 family. Protein modification; protein ubiquitination.;Neddylation PE1 15 +NX_Q9UK76 Jupiter microtubule associated homolog 1 154 16015 5.47 0 Cytoplasm;Nucleolus;Nucleus membrane;Nucleoplasm;Nucleus NA Modulates negatively AKT-mediated GSK3B signaling (PubMed:21323578, PubMed:22155408). Induces CTNNB1 'Ser-33' phosphorylation and degradation through the suppression of the inhibitory 'Ser-9' phosphorylation of GSK3B, which represses the function of the APC:CTNNB1:GSK3B complex and the interaction with CDH1/E-cadherin in adherent junctions (PubMed:25169422). Plays a role in the regulation of cell cycle and cell adhesion (PubMed:25169422, PubMed:25450365). Has an inhibitory role on AR-signaling pathway through the induction of receptor proteosomal degradation (PubMed:22155408). NA Belongs to the JUPITER family. NA PE1 17 +NX_Q9UK80 Ubiquitin carboxyl-terminal hydrolase 21 565 62656 9.91 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Deubiquitinates histone H2A, a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Deubiquitination of histone H2A releaves the repression of di- and trimethylation of histone H3 at 'Lys-4', resulting in regulation of transcriptional initiation. Regulates gene expression via histone H2A deubiquitination (By similarity). Also capable of removing NEDD8 from NEDD8 conjugates but has no effect on Sentrin-1 conjugates (PubMed:10799498). Deubiquitinates BAZ2A/TIP5 leading to its stabilization (PubMed:26100909). NA Belongs to the peptidase C19 family. USP21 subfamily. TNFR1-induced proapoptotic signaling;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;Ub-specific processing proteases PE1 1 +NX_Q9UK85 Dickkopf-like protein 1 242 27007 8.1 0 Secreted;Nucleus membrane;Endoplasmic reticulum;Cytoplasmic vesicle;Acrosome NA Involved in fertilization by facilitating sperm penetration of the zona pellucida. May promote spermatocyte apoptosis, thereby limiting sperm production. In adults, may reduces testosterone synthesis in Leydig cells. Is not essential either for development or fertility. N-glycosylated during spermatogenesis. Not N-glycosylated in mature sperm. NA NA PE1 19 +NX_Q9UK96 F-box only protein 10 956 105195 8.47 0 Nucleoplasm;Cytosol;Cytoplasm NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. The SCF(FBXO10) complex mediates ubiquitination and degradation of BCL2, an antiapoptotic protein, thereby playing a role in apoptosis by controlling the stability of BCL2. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 9 +NX_Q9UK97 F-box only protein 9 447 52329 5.8 0 Cytoplasm;Centrosome;Cell membrane NA Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of TTI1 and TELO2 in a CK2-dependent manner, thereby directly regulating mTOR signaling. SCF(FBXO9) recognizes and binds mTORC1-bound TTI1 and TELO2 when they are phosphorylated by CK2 following growth factor deprivation, leading to their degradation. In contrast, the SCF(FBXO9) does not mediate ubiquitination of TTI1 and TELO2 when they are part of the mTORC2 complex. As a consequence, mTORC1 is inactivated to restrain cell growth and protein translation, while mTORC2 is activated due to the relief of feedback inhibition by mTORC1. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 6 +NX_Q9UK99 F-box only protein 3 471 54561 4.88 0 Nucleoplasm;Cytosol;Nucleus NA Substrate recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Mediates the ubiquitination of HIPK2 and probably that of EP300, leading to rapid degradation by the proteasome. In the presence of PML, HIPK2 ubiquitination still occurs, but degradation is prevented. PML, HIPK2 and FBXO3 may act synergically to activate p53/TP53-dependent transactivation. NA NA NA PE1 11 +NX_Q9UKA1 F-box/LRR-repeat protein 5 691 78555 5.32 0 Perinuclear region NA Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in iron homeostasis by promoting the ubiquitination and subsequent degradation of IREB2/IRP2. Upon high iron and oxygen level, it specifically recognizes and binds IREB2/IRP2, promoting its ubiquitination and degradation by the proteasome. Promotes ubiquitination and subsequent degradation of DCTN1/p150-glued. Polybiquitinated upon iron and oxygen depletion, leading to its degradation by the proteasome. Ubiquitination is regulated by the hemerythrin-like region that acts as an oxygen and iron sensor. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Association of TriC/CCT with target proteins during biosynthesis;Iron uptake and transport;Neddylation PE1 4 +NX_Q9UKA2 F-box/LRR-repeat protein 4 621 70097 6.1 0 Cytoplasm;Nucleus speckle;Nucleus;Mitochondrion Mitochondrial DNA depletion syndrome 13 NA NA NA Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 6 +NX_Q9UKA4 A-kinase anchor protein 11 1901 210512 5.23 0 Cytoplasm;Cell membrane;Nucleolus;Centrosome;Cytosol NA Binds to type II regulatory subunits of protein kinase A and anchors/targets them. NA Belongs to the AKAP110 family. NA PE1 13 +NX_Q9UKA8 Calcipressin-3 241 27492 4.54 0 Nucleus speckle;Nucleolus NA Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development (By similarity). NA Belongs to the RCAN family. NA PE1 1 +NX_Q9UKA9 Polypyrimidine tract-binding protein 2 531 57491 8.72 0 Nucleoplasm;Nucleus NA Has a reduced affinity for RNA.;RNA-binding protein which binds to intronic polypyrimidine tracts and mediates negative regulation of exons splicing. May antagonize in a tissue-specific manner the ability of NOVA1 to activate exon selection. In addition to its function in pre-mRNA splicing, plays also a role in the regulation of translation. NA NA NA PE1 1 +NX_Q9UKB1 F-box/WD repeat-containing protein 11 542 62091 6.73 0 Cytoplasmic vesicle;Nucleolus;Cytoplasm;Nucleus NA (Microbial infection) Target of human immunodeficiency virus type 1 (HIV-1) protein VPU to polyubiquitinate and deplete BST2 from cells and antagonize its antiviral action.;Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins. SCF(FBXW11) mediates the ubiquitination of phosphorylated CTNNB1 and participates in Wnt signaling. SCF(FBXW11) mediates the ubiquitination of phosphorylated NFKBIA, which degradation frees the associated NFKB1 to translocate into the nucleus and to activate transcription. SCF(FBXW11) mediates the ubiquitination of IFNAR1. SCF(FBXW11) mediates the ubiquitination of CEP68; this is required for centriole separation during mitosis (PubMed:25503564). Involved in the oxidative stress-induced a ubiquitin-mediated decrease in RCAN1. Mediates the degradation of CDC25A induced by ionizing radiation in cells progressing through S phase and thus may function in the intra-S-phase checkpoint. Has an essential role in the control of the clock-dependent transcription via degradation of phosphorylated PER1 and phosphorylated PER2. SCF(FBXW11) mediates the ubiquitination of CYTH1, and probably CYTH2 (PubMed:29420262). NA NA Oocyte meiosis;Ubiquitin mediated proteolysis;Wnt signaling pathway;Hedgehog signaling pathway;Circadian rhythm - mammal;Shigellosis;Activation of NF-kappaB in B cells;FCERI mediated NF-kB activation;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;NIK-->noncanonical NF-kB signaling;Antigen processing: Ubiquitination & Proteasome degradation;Regulation of PLK1 Activity at G2/M Transition;Downstream TCR signaling;MAP3K8 (TPL2)-dependent MAPK1/3 activation;Neddylation PE1 5 +NX_Q9UKB3 DnaJ homolog subfamily C member 12 198 23415 5.51 0 Cytoplasm Hyperphenylalaninemia, mild, non-BH4-deficient NA NA NA NA PE1 10 +NX_Q9UKB5 Adherens junction-associated protein 1 411 44536 9.63 1 Basolateral cell membrane;Apical cell membrane;Adherens junction NA Plays a role in cell adhesion and cell migration. Thr-237 and Ser-239 may be phosphorylated; however as this position is probably extracellular, the in vivo relevance is not proven. NA NA PE1 1 +NX_Q9UKC9 F-box/LRR-repeat protein 2 423 47062 7.4 0 Membrane;Nucleoplasm;Nucleolus;Cell membrane NA Calcium-activated substrate recognition component of the SCF (SKP1-cullin-F-box protein) E3 ubiquitin-protein ligase complex, SCF(FBXL2), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Unlike many F-box proteins, FBXL2 does not seem to target phosphodegron within its substrates but rather calmodulin-binding motifs and is thereby antagonized by calmodulin. This is the case for the cyclins CCND2 and CCND3 which polyubiquitination and subsequent degradation are inhibited by calmodulin. Through CCND2 and CCND3 degradation induces cell-cycle arrest in G(0) (PubMed:22020328, PubMed:22323446). SCF(FBXL2) also mediates PIK3R2 ubiquitination and proteasomal degradation thereby regulating phosphatidylinositol 3-kinase signaling and autophagy (PubMed:23604317). PCYT1A monoubiquitination by SCF(FBXL2) and subsequent degradation regulates synthesis of phosphatidylcholine, which is utilized for formation of membranes and of pulmonary surfactant (By similarity). NA NA NA PE1 3 +NX_Q9UKD1 Glucocorticoid modulatory element-binding protein 2 530 56421 5.38 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Trans-acting factor that binds to glucocorticoid modulatory elements (GME) present in the TAT (tyrosine aminotransferase) promoter and increases sensitivity to low concentrations of glucocorticoids. Binds also to the transferrin receptor promoter. Essential auxiliary factor for the replication of parvoviruses. NA NA NA PE1 20 +NX_Q9UKD2 mRNA turnover protein 4 homolog 239 27560 8.34 0 Cytoplasm;Nucleus membrane;Nucleolus;Nucleoplasm;Nucleus NA Component of the ribosome assembly machinery. Nuclear paralog of the ribosomal protein P0, it binds pre-60S subunits at an early stage of assembly in the nucleolus, and is replaced by P0 in cytoplasmic pre-60S subunits and mature 80S ribosomes. NA Belongs to the universal ribosomal protein uL10 family. NA PE1 1 +NX_Q9UKE5 TRAF2 and NCK-interacting protein kinase 1360 154943 6.7 0 Cytoplasm;Recycling endosome;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton Mental retardation, autosomal recessive 54 Serine/threonine kinase that acts as an essential activator of the Wnt signaling pathway. Recruited to promoters of Wnt target genes and required to activate their expression. May act by phosphorylating TCF4/TCF7L2. Appears to act upstream of the JUN N-terminal pathway. May play a role in the response to environmental stress. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it may play a role in cytoskeletal rearrangements and regulate cell spreading. Phosphorylates SMAD1 on Thr-322. Autophosphorylated. Autophosphorylation is activated by RAP2A and induces association to the cytoskeletal fraction.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. Oxidative Stress Induced Senescence PE1 3 +NX_Q9UKF2 Disintegrin and metalloproteinase domain-containing protein 30 790 88940 7.84 1 Late endosome membrane NA Plays a role in lysosomal amyloid precursor protein (APP) processing by cleaving and activating CTSD/cathepsin D which leads to APP degradation (PubMed:27333034). NA NA Interaction With Cumulus Cells And The Zona Pellucida PE1 1 +NX_Q9UKF5 Disintegrin and metalloproteinase domain-containing protein 29 820 92759 7.29 1 Membrane NA May be involved in spermatogenesis and fertilization. Seems to be a non catalytic metalloprotease-like protein. NA NA NA PE1 4 +NX_Q9UKF6 Cleavage and polyadenylation specificity factor subunit 3 684 77486 5.37 0 Nucleus NA Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. Has endonuclease activity, and functions as mRNA 3'-end-processing endonuclease. Also involved in the histone 3'-end pre-mRNA processing. U7 snRNP-dependent protein that induces both the 3'-endoribonucleolytic cleavage of histone pre-mRNAs and acts as a 5' to 3' exonuclease for degrading the subsequent downstream cleavage product (DCP) of mature histone mRNAs. Cleavage occurs after the 5'-ACCCA-3' sequence in the histone pre-mRNA leaving a 3'hydroxyl group on the upstream fragment containing the stem loop (SL) and 5' phosphate on the downstream cleavage product (DCP) starting with CU nucleotides. The U7-dependent 5' to 3' exonuclease activity is processive and degrades the DCP RNA substrate even after complete removal of the U7-binding site. Binds to the downstream cleavage product (DCP) of histone pre-mRNAs and the cleaved DCP RNA substrate in a U7 snRNP dependent manner. Required for the selective processing of microRNAs (miRNAs) during embryonic stem cell differentiation via its interaction with ISY1 (By similarity). Required for the biogenesis of all miRNAs from the pri-miR-17-92 primary transcript except miR-92a (By similarity). Only required for the biogenesis of miR-290 and miR-96 from the pri-miR-290-295 and pri-miR-96-183 primary transcripts, respectively (By similarity). Sumoylated on Lys-462, Lys-465 and Lys-545, preferentially by SUMO3. Belongs to the metallo-beta-lactamase superfamily. RNA-metabolizing metallo-beta-lactamase-like family. CPSF3 subfamily. mRNA surveillance pathway;Transport of Mature mRNA Derived from an Intronless Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Processing of Intronless Pre-mRNAs;RNA Polymerase II Transcription Termination PE1 2 +NX_Q9UKF7 Cytoplasmic phosphatidylinositol transfer protein 1 332 38388 5.99 0 Cytoplasm;Nucleoplasm;Cytosol NA Phosphatidylinositol transfer proteins mediate the monomeric transport of lipids by shielding a lipid from the aqueous environment and binding the lipid in a hydrophobic cavity. Able to transfer phosphatidylinositol in vitro. NA Belongs to the PtdIns transfer protein family. PI transfer class IIB subfamily. NA PE1 17 +NX_Q9UKG1 DCC-interacting protein 13-alpha 709 79663 5.28 0 Cytoplasm;Endosome;Centrosome;Phagosome;Ruffle;Early endosome membrane;Spindle;Nucleus Maturity-onset diabetes of the young 14 Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism (PubMed:26583432, PubMed:15016378, PubMed:26073777, PubMed:19661063, PubMed:10490823). Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex (PubMed:15016378). Functions as a positive regulator of innate immune response via activation of AKT1 signaling pathway by forming a complex with APPL1 and PIK3R1 (By similarity). Inhibits Fc-gamma receptor-mediated phagocytosis through PI3K/Akt signaling in macrophages (By similarity). Regulates TLR4 signaling in activated macrophages (By similarity). Involved in trafficking of the TGFBR1 from the endosomes to the nucleus via microtubules in a TRAF6-dependent manner (PubMed:26583432). Plays a role in cell metabolism by regulating adiponecting and insulin signaling pathways (PubMed:26073777, PubMed:19661063, PubMed:24879834). Required for fibroblast migration through HGF cell signaling (By similarity). Positive regulator of beta-catenin/TCF-dependent transcription through direct interaction with RUVBL2/reptin resulting in the relief of RUVBL2-mediated repression of beta-catenin/TCF target genes by modulating the interactions within the beta-catenin-reptin-HDAC complex (PubMed:19433865). Phosphorylation at Ser-410 by PKA severely impairs binding to OCRL. NA Pathways in cancer;Colorectal cancer;Caspase activation via Dependence Receptors in the absence of ligand PE1 3 +NX_Q9UKG4 Solute carrier family 13 member 4 626 69358 7.16 12 Membrane NA Sodium/sulfate cotransporter that mediates sulfate reabsorption in the high endothelial venules (HEV). NA Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily. Sodium-coupled sulphate, di- and tri-carboxylate transporters PE1 7 +NX_Q9UKG9 Peroxisomal carnitine O-octanoyltransferase 612 70178 6.63 0 Peroxisome;Cytoplasmic vesicle NA Beta-oxidation of fatty acids. The highest activity concerns the C6 to C10 chain length substrate. Converts the end product of pristanic acid beta oxidation, 4,8-dimethylnonanoyl-CoA, to its corresponding carnitine ester. NA Belongs to the carnitine/choline acetyltransferase family. Lipid metabolism; fatty acid beta-oxidation.;Peroxisome;Beta-oxidation of pristanoyl-CoA;Peroxisomal protein import PE1 7 +NX_Q9UKH3 Endogenous retrovirus group K member 9 Env polyprotein 698 79016 9.15 1 Virion;Cell membrane NA TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).;Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.;SU mediates receptor recognition. Specific enzymatic cleavages in vivo yield the mature SU and TM proteins. Belongs to the beta type-B retroviral envelope protein family. HERV class-II K(HML-2) env subfamily. NA PE1 6 +NX_Q9UKI2 Cdc42 effector protein 3 254 27678 5.49 0 Endomembrane system;Cell membrane;Cytoskeleton NA Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts. CDC42EP3 is phosphorylated by MAPKAPK5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the BORG/CEP family. MAPK6/MAPK4 signaling PE1 2 +NX_Q9UKI3 Pre-B lymphocyte protein 3 123 13710 5.1 0 NA NA Associates with the Ig-mu chain to form a molecular complex that is expressed on the surface of pre-B-cells. NA Belongs to the immunoglobulin superfamily. Cell surface interactions at the vascular wall PE1 22 +NX_Q9UKI8 Serine/threonine-protein kinase tousled-like 1 766 86700 8.88 0 Nucleoplasm;Nucleus NA Phosphorylates and enhances the stability of the t-SNARE SNAP23, augmenting its assembly with syntaxin.;Protects the cells from the ionizing radiation by facilitating the repair of DSBs. In vitro, phosphorylates histone H3 at 'Ser-10'.;Rapidly and transiently inhibited by phosphorylation following the generation of DNA double-stranded breaks during S-phase. This is cell cycle checkpoint and ATM-pathway dependent and appears to regulate processes involved in chromatin assembly. NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. NA PE1 2 +NX_Q9UKI9 POU domain, class 2, transcription factor 3 436 47432 8.66 0 Cell membrane;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Regulated the expression of a number of genes such as SPRR2A or placental lactogen. NA Belongs to the POU transcription factor family. Class-2 subfamily. Herpes simplex infection PE1 11 +NX_Q9UKJ0 Paired immunoglobulin-like type 2 receptor beta 227 25542 10.39 1 Membrane;Mitochondrion NA Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRB is thought to act as a cellular signaling activating receptor that associates with ITAM-bearing adapter molecules on the cell surface. NA NA Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 7 +NX_Q9UKJ1 Paired immunoglobulin-like type 2 receptor alpha 303 34005 10.22 1 Secreted;Cell membrane NA Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRA is thought to act as a cellular signaling inhibitory receptor by recruiting cytoplasmic phosphatases like PTPN6/SHP-1 and PTPN11/SHP-2 via their SH2 domains that block signal transduction through dephosphorylation of signaling molecules. Receptor for PIANP.;(Microbial infection) Acts as an entry co-receptor for herpes simplex virus 1. Phosphorylated on tyrosine residues.;According to PubMed:10660620, N- and O-glycosylated. According to PubMed:10903717, only N-glycosylated. NA Herpes simplex infection;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 7 +NX_Q9UKJ3 G patch domain-containing protein 8 1502 164197 8.81 0 Nucleus speckle;Mitochondrion NA NA NA NA NA PE1 17 +NX_Q9UKJ5 Cysteine-rich hydrophobic domain-containing protein 2 165 19254 6.34 0 Cytoplasmic vesicle;Cell membrane NA NA Palmitoylation in the CHIC motif is required for membrane association. Belongs to the CHIC family. NA PE1 4 +NX_Q9UKJ8 Disintegrin and metalloproteinase domain-containing protein 21 722 80834 6.22 1 Membrane NA May be involved in sperm maturation and/or fertilization. May also be involved in epithelia functions associated with establishing and maintaining gradients of ions or nutrients. Has no obvious cleavage site for furin endopeptidase, suggesting that the proteolytic processing is regulated. NA Interaction With Cumulus Cells And The Zona Pellucida PE1 14 +NX_Q9UKK3 Protein mono-ADP-ribosyltransferase PARP4 1724 192595 5.43 0 Cytoplasm;Cytosol;Spindle;Nucleus NA Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins. NA NA Base excision repair;Nicotinamide salvaging PE1 13 +NX_Q9UKK6 NTF2-related export protein 1 140 15847 4.91 0 Cytoplasm;Nucleus speckle;Nucleoplasm;Cytosol;Nucleus NA Stimulator of protein export for NES-containing proteins (PubMed:10567585). Also plays a role in the nuclear export of U1 snRNA, tRNA, and mRNA (PubMed:10848583). The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5 (PubMed:19165146, PubMed:11259602). NA NA Ribosome biogenesis in eukaryotes;RNA transport;mRNA surveillance pathway;Influenza A;Transport of Mature mRNA derived from an Intron-Containing Transcript PE1 20 +NX_Q9UKK9 ADP-sugar pyrophosphatase 219 24328 4.87 0 Nucleoplasm;Centrosome;Nucleus;Cytoplasmic vesicle NA Enzyme that can either act as an ADP-sugar pyrophosphatase in absence of diphosphate or catalyze the synthesis of ATP in presence of diphosphate (PubMed:27257257). In absence of diphosphate, hydrolyzes with similar activities various modified nucleoside diphosphates such as ADP-ribose, ADP-mannose, ADP-glucose, 8-oxo-GDP and 8-oxo-dGDP (PubMed:10567213, PubMed:10722730, PubMed:19699693, PubMed:21389046, PubMed:17052728). Can also hydrolyze other nucleotide sugars with low activity (PubMed:19699693, PubMed:21389046). In presence of diphosphate, mediates the synthesis of ATP in the nucleus by catalyzing the conversion of ADP-ribose to ATP and ribose 5-phosphate. Nuclear ATP synthesis takes place when dephosphorylated at Thr-45 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). Does not play a role in U8 snoRNA decapping activity (By similarity). Binds U8 snoRNA (By similarity). Phosphorylation at Thr-45 is required for homodimer stability; dephosphorylation results in destabilization of the homodimer. Dephosphorylation at Thr-45 promotes the ATP-synthesis activity. Belongs to the Nudix hydrolase family. Purine metabolism;Phosphate bond hydrolysis by NUDT proteins PE1 10 +NX_Q9UKL0 REST corepressor 1 485 53327 6.56 0 Nucleoplasm;Nucleus NA Essential component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it serves as a molecular beacon for the recruitment of molecular machinery, including MeCP2 and SUV39H1, that imposes silencing across a chromosomal interval. Plays a central role in demethylation of Lys-4 of histone H3 by promoting demethylase activity of KDM1A on core histones and nucleosomal substrates. It also protects KDM1A from the proteasome. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development and controls hematopoietic differentiation. Phosphorylated by HSV-1 protein kinases in case of infection. Belongs to the CoREST family. Huntington's disease;Factors involved in megakaryocyte development and platelet production;HDACs deacetylate histones;Regulation of PTEN gene transcription PE1 14 +NX_Q9UKL2 Olfactory receptor 52A1 312 35322 8.89 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q9UKL3 CASP8-associated protein 2 1982 222658 6.14 0 Cytoplasm;Mitochondrion;Nucleolus;PML body;Nucleus NA Participates in TNF-alpha-induced blockade of glucocorticoid receptor (GR) transactivation at the nuclear receptor coactivator level, upstream and independently of NF-kappa-B. Suppresses both NCOA2- and NCOA3-induced enhancement of GR transactivation. Involved in TNF-alpha-induced activation of NF-kappa-B via a TRAF2-dependent pathway. Acts as a downstream mediator for CASP8-induced activation of NF-kappa-B. Required for the activation of CASP8 in FAS-mediated apoptosis. Required for histone gene transcription and progression through S phase. NA NA SUMOylation of transcription cofactors PE1 6 +NX_Q9UKL4 Gap junction delta-2 protein 321 36093 8.95 4 Gap junction;Cell membrane NA One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. NA Belongs to the connexin family. Delta-type subfamily. Gap junction;Electric Transmission Across Gap Junctions;Gap junction assembly PE1 15 +NX_Q9UKL6 Phosphatidylcholine transfer protein 214 24843 5.62 0 Nucleoplasm;Cytoplasm;Nucleolus NA Catalyzes the transfer of phosphatidylcholine between membranes. Binds a single lipid molecule. NA NA Synthesis of PC;Mitochondrial Fatty Acid Beta-Oxidation PE1 17 +NX_Q9UKM7 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 699 79580 7.38 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane Mental retardation, autosomal recessive 15 Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man(5-6)GlcNAc(2). NA Belongs to the glycosyl hydrolase 47 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Protein processing in endoplasmic reticulum;Defective MAN1B1 causes MRT15;ER Quality Control Compartment (ERQC) PE1 9 +NX_Q9UKM9 RNA-binding protein Raly 306 32463 9.2 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA RNA-binding protein that acts as a transcriptional cofactor for cholesterol biosynthetic genes in the liver. Binds the lipid-responsive non-coding RNA LeXis and is required for LeXis-mediated effect on cholesterogenesis (By similarity). May be a heterogeneous nuclear ribonucleoprotein (hnRNP) (PubMed:9376072). NA Belongs to the RRM HNRPC family. RALY subfamily. NA PE1 20 +NX_Q9UKN1 Mucin-12 5478 558164 5.31 1 Membrane NA Involved in epithelial cell protection, adhesion modulation, and signaling. May be involved in epithelial cell growth regulation. Stimulated by both cytokine TNF-alpha and TGF-beta in intestinal epithelium. NA NA O-linked glycosylation of mucins;Termination of O-glycan biosynthesis;Dectin-2 family;Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC);Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS);Defective GALNT12 causes colorectal cancer 1 (CRCS1) PE1 7 +NX_Q9UKN5 PR domain zinc finger protein 4 801 87920 5.93 0 Nucleoplasm;Nucleus NA May function as a transcription factor involved in cell differentiation. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. p75NTR negatively regulates cell cycle via SC1 PE1 12 +NX_Q9UKN7 Unconventional myosin-XV 3530 395293 9.26 0 Stereocilium;Cytoskeleton Deafness, autosomal recessive, 3 Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Required for the arrangement of stereocilia in mature hair bundles (By similarity). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. NA PE1 17 +NX_Q9UKN8 General transcription factor 3C polypeptide 4 822 91982 6.21 0 Nucleoplasm;Mitochondrion;Nucleus NA Essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA, tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin. Has histone acetyltransferase activity (HAT) with unique specificity for free and nucleosomal H3. May cooperate with GTF3C5 in facilitating the recruitment of TFIIIB and RNA polymerase through direct interactions with BRF1, POLR3C and POLR3F. May be localized close to the A box. NA Belongs to the TFIIIC subunit 4 family. RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter PE1 9 +NX_Q9UKP3 Integrin beta-1-binding protein 2 347 38382 5.04 0 Cytosol NA May play a role during maturation and/or organization of muscles cells. NA NA NA PE1 X +NX_Q9UKP4 A disintegrin and metalloproteinase with thrombospondin motifs 7 1686 184095 5.81 0 Cytoplasmic vesicle;Extracellular matrix NA Metalloprotease that may play a role in the degradation of COMP. May be cleaved by a furin endopeptidase (By similarity). The precursor is sequentially processed.;N-glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs. N- and C-glycosylations can also facilitate secretion. O-glycosylated proteoglycan. Contains chondroitin sulfate. NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 15 +NX_Q9UKP5 A disintegrin and metalloproteinase with thrombospondin motifs 6 1117 125273 6.24 0 Extracellular matrix NA NA The precursor is cleaved by a furin endopeptidase.;Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity). NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 5 +NX_Q9UKP6 Urotensin-2 receptor 389 42130 10.68 7 Cell membrane NA High affinity receptor for urotensin-2 and urotensin-2B. The activity of this receptor is mediated by a G-protein that activate a phosphatidylinositol-calcium second messenger system. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;Peptide ligand-binding receptors;G alpha (q) signalling events PE1 17 +NX_Q9UKQ2 Disintegrin and metalloproteinase domain-containing protein 28 775 87148 6.55 1 Mitochondrion;Secreted;Cell membrane NA May play a role in the adhesive and proteolytic events that occur during lymphocyte emigration or may function in ectodomain shedding of lymphocyte surface target proteins, such as FASL and CD40L. May be involved in sperm maturation. Pro-domain removal and maturation may be, at least in part, autocatalytic. NA NA PE1 8 +NX_Q9UKQ9 Kallikrein-9 250 27513 7.1 0 Secreted NA NA NA Belongs to the peptidase S1 family. Kallikrein subfamily. NA PE1 19 +NX_Q9UKR0 Kallikrein-12 248 26734 7.57 0 Secreted NA NA NA Belongs to the peptidase S1 family. Kallikrein subfamily. Formation of the cornified envelope PE1 19 +NX_Q9UKR3 Kallikrein-13 277 30570 8.78 0 Secreted NA NA NA Belongs to the peptidase S1 family. Kallikrein subfamily. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Formation of the cornified envelope PE1 19 +NX_Q9UKR5 Probable ergosterol biosynthetic protein 28 140 15864 9.86 4 Nucleoplasm;Endoplasmic reticulum;Cytosol;Endoplasmic reticulum membrane NA NA NA Belongs to the ERG28 family. NA PE1 14 +NX_Q9UKR8 Tetraspanin-16 245 26266 8.61 4 Membrane NA NA NA Belongs to the tetraspanin (TM4SF) family. NA PE1 19 +NX_Q9UKS6 Protein kinase C and casein kinase substrate in neurons protein 3 424 48487 5.83 0 Cytoplasm;Cytosol;Cell membrane NA Plays a role in endocytosis and regulates internalization of plasma membrane proteins. Overexpression impairs internalization of SLC2A1/GLUT1 and TRPV4 and increases the levels of SLC2A1/GLUT1 and TRPV4 at the cell membrane. Inhibits the TRPV4 calcium channel activity (By similarity). Phosphorylated by casein kinase 2 (CK2) and protein kinase C (PKC). Belongs to the PACSIN family. Clathrin-mediated endocytosis PE1 11 +NX_Q9UKS7 Zinc finger protein Helios 526 59574 6.3 0 Nucleoplasm;Cytosol;Nucleus NA Associates with Ikaros at centromeric heterochromatin. NA Belongs to the Ikaros C2H2-type zinc-finger protein family. NA PE1 2 +NX_Q9UKT4 F-box only protein 5 447 50146 9.17 0 Spindle;Nucleoplasm;Cytoplasm;Nucleus NA Regulator of APC activity during mitotic and meiotic cell cycle (PubMed:17485488, PubMed:17234884, PubMed:17875940, PubMed:23708001, PubMed:23708605, PubMed:16921029). During mitotic cell cycle plays a role as both substrate and inhibitor of APC-FZR1 complex (PubMed:29875408, PubMed:17485488, PubMed:17234884, PubMed:17875940, PubMed:23708001, PubMed:23708605, PubMed:16921029). During G1 phase, plays a role as substrate of APC-FZR1 complex E3 ligase (PubMed:29875408). Then switches as an inhibitor of APC-FZR1 complex during S and G2 leading to cell-cycle commitment (PubMed:29875408). As APC inhibitor, prevents the degradation of APC substrates at multiple levels: by interacting with APC and blocking access of APC substrates to the D-box coreceptor, formed by FZR1 and ANAPC10; by suppressing ubiquitin ligation and chain elongation by APC by preventing the UBE2C and UBE2S activities (PubMed:23708605, PubMed:23708001, PubMed:16921029). Plays a role in genome integrity preservation by coordinating DNA replication with mitosis through APC inhibition in interphase to stabilize CCNA2 and GMNN in order to promote mitosis and prevent rereplication and DNA damage-induced cellular senescence (PubMed:17234884, PubMed:17485488, PubMed:17875940). During oocyte maturation, plays a role in meiosis through inactivation of APC-FZR1 complex. Inhibits APC through RPS6KA2 interaction that increases FBXO5 affiniy for CDC20 leading to the metaphase arrest of the second meiotic division before fertilization (By similarity). Controls entry into the first meiotic division through inactivation of APC-FZR1 complex (By similarity). Promotes migration and osteogenic differentiation of mesenchymal stem cells (PubMed:29850565). Phosphorylation by CDK2 and subsequently by PLK1 triggers degradation during early mitosis through ubiquitin-mediated proteolysis by the SCF ubiquitin ligase complex containing the F-box protein BTRC. This degradation is necessary for the activation of APC in late mitosis and subsequent mitotic progression (PubMed:12791267, PubMed:15469984). Phosphorylated by RPS6KA2; increases and stabilizes interaction with CDC20 (By similarity).;Ubiquitinated by the SCF(BTRC) complex following phosphorylation by PLK1 (PubMed:15469984). Undergoes both 'Lys-11' and 'Lys-48'-linked polyubiquitination by APC-FZR1 complex leading to degradation by proteasome during G1 phase (PubMed:29875408). Degraded through the SCF(BTRC) complex; degradation occurs during oocyte maturation, between germinal vesicle breakdown (GVBD) and meiosis I, and is required for the meiosis I-meiosis II transition (By similarity). NA Protein modification; protein ubiquitination.;Oocyte meiosis;SCF-beta-TrCP mediated degradation of Emi1;G1/S-Specific Transcription;Regulation of APC/C activators between G1/S and early anaphase;Phosphorylation of Emi1;Mitotic Metaphase/Anaphase Transition PE1 6 +NX_Q9UKT5 F-box only protein 4 387 44136 5.77 0 Nucleoplasm;Cytoplasm NA Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes ubiquitination of CCND1 and its subsequent proteasomal degradation. Recognizes TERF1 and promotes its ubiquitination together with UBE2D1. Phosphorylation at Ser-12 varies during the cell cycle. It is low in resting cells and high in the S phase and the G2/M phase of the cell cycle. Phosphorylation is decreased during late G1 phase (By similarity). Phosphorylation at Ser-12 promotes homodimerization and is necessary for optimal ubiquitin ligase activity towards CCND1. NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Antigen processing: Ubiquitination & Proteasome degradation;Association of TriC/CCT with target proteins during biosynthesis;Neddylation PE1 5 +NX_Q9UKT6 Putative F-box/LRR-repeat protein 21 434 49152 6.02 0 Cytosol;Nucleus NA Substrate-recognition component of the SCF(FBXL21) E3 ubiquitin ligase complex involved in circadian rhythm function. Plays a key role in the maintenance of both the speed and the robustness of the circadian clock oscillation. The SCF(FBXL21) complex mainly acts in the cytosol and mediates ubiquitination of CRY proteins (CRY1 and CRY2), leading to CRY proteins stabilization. The SCF(FBXL21) complex counteracts the activity of the SCF(FBXL3) complex and protects CRY proteins from degradation. Involved in the hypothalamic suprachiasmatic nucleus (SCN) clock regulating temporal organization of the daily activities (By similarity). NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE5 5 +NX_Q9UKT7 F-box/LRR-repeat protein 3 428 48707 6.41 0 Cytoplasm;Nucleus Intellectual developmental disorder with short stature, facial anomalies, and speech defects Substrate-recognition component of the SCF(FBXL3) E3 ubiquitin ligase complex involved in circadian rhythm function. Plays a key role in the maintenance of both the speed and the robustness of the circadian clock oscillation (PubMed:17463251, PubMed:23452855, PubMed:27565346). The SCF(FBXL3) complex mainly acts in the nucleus and mediates ubiquitination and subsequent degradation of CRY1 and CRY2 (PubMed:17463251, PubMed:23452855, PubMed:27565346). Activity of the SCF(FBXL3) complex is counteracted by the SCF(FBXL21) complex (PubMed:23452855). Undergoes autophagy-mediated degradation in the liver in a time-dependent manner. NA Protein modification; protein ubiquitination.;Circadian rhythm - mammal;Antigen processing: Ubiquitination & Proteasome degradation;Association of TriC/CCT with target proteins during biosynthesis;Circadian Clock;Neddylation PE1 13 +NX_Q9UKT8 F-box/WD repeat-containing protein 2 454 51512 6.11 0 Nucleoplasm NA Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NA NA Antigen processing: Ubiquitination & Proteasome degradation;Association of TriC/CCT with target proteins during biosynthesis;Neddylation PE1 9 +NX_Q9UKT9 Zinc finger protein Aiolos 509 58023 6.11 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Transcription factor that plays an important role in the regulation of lymphocyte differentiation. Plays an essential role in regulation of B-cell differentiation, proliferation and maturation to an effector state. Involved in regulating BCL2 expression and controlling apoptosis in T-cells in an IL2-dependent manner. Phosphorylation on tyrosine residues induced by IL2 is required for dissociation from HRAS and nuclear translocation of IKZF3 in T-cells. Phosphorylation on tyrosine residues induced by IL4 is required for dissociation from Bcl-X(L) in T-cells. Belongs to the Ikaros C2H2-type zinc-finger protein family. NA PE1 17 +NX_Q9UKU0 Long-chain-fatty-acid--CoA ligase 6 697 77752 7.2 1 Mitochondrion outer membrane;Peroxisome membrane;Microsome membrane;Endoplasmic reticulum membrane NA Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:22633490, PubMed:24269233). Plays an important role in fatty acid metabolism in brain and the acyl-CoAs produced may be utilized exclusively for the synthesis of the brain lipid. NA Belongs to the ATP-dependent AMP-binding enzyme family. Fatty acid metabolism;Metabolic pathways;PPAR signaling pathway;Peroxisome;Adipocytokine signaling pathway;Synthesis of very long-chain fatty acyl-CoAs PE1 5 +NX_Q9UKU6 Thyrotropin-releasing hormone-degrading ectoenzyme 1024 117000 6.51 1 Membrane NA Specific inactivation of TRH after its release. NA Belongs to the peptidase M1 family. NA PE1 12 +NX_Q9UKU7 Isobutyryl-CoA dehydrogenase, mitochondrial 415 45070 8.12 0 Mitochondrion Isobutyryl-CoA dehydrogenase deficiency Isobutyryl-CoA dehydrogenase which catalyzes one of the steps of the valine catabolic pathway (PubMed:11013134, PubMed:12359132, PubMed:16857760). To a lesser extent, is also able to catalyze the oxidation of (2S)-2-methylbutanoyl-CoA (PubMed:11013134, PubMed:12359132). NA Belongs to the acyl-CoA dehydrogenase family. Amino-acid degradation; L-valine degradation.;Valine, leucine and isoleucine degradation;Metabolic pathways;Branched-chain amino acid catabolism PE1 11 +NX_Q9UKU9 Angiopoietin-related protein 2 493 57104 7.23 0 Golgi apparatus;Secreted NA Induces sprouting in endothelial cells through an autocrine and paracrine action. N-glycosylated. NA NA PE1 9 +NX_Q9UKV0 Histone deacetylase 9 1011 111297 6.4 0 Nucleoplasm;Nucleus NA Lacks active site residues and therefore is catalytically inactive. Represses MEF2-dependent transcription by recruiting HDAC1 and/or HDAC3. Seems to inhibit skeletal myogenesis and to be involved in heart development. Protects neurons from apoptosis, both by inhibiting JUN phosphorylation by MAPK10 and by repressing JUN transcription via HDAC1 recruitment to JUN promoter.;Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Represses MEF2-dependent transcription. Is phosphorylated on Tyr-1010. Phosphorylated by the PKC kinases PKN1 and PKN2, impairing nuclear import.;Sumoylated.;Phosphorylated on Ser-220 and Ser-450; which promotes 14-3-3-binding, impairs interaction with MEF2, and antagonizes antimyogenic activity. Phosphorylated on Ser-240; which impairs nuclear accumulation (By similarity). Belongs to the histone deacetylase family. HD type 2 subfamily. Notch-HLH transcription pathway;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants PE1 7 +NX_Q9UKV3 Apoptotic chromatin condensation inducer in the nucleus 1341 151862 6.08 0 Nucleus speckle;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets; ACIN1 confers RNA-binding to the complex. The ASAP complex can inhibit RNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function. Induces apoptotic chromatin condensation after activation by CASP3. Regulates cyclin A1, but not cyclin A2, expression in leukemia cells. Undergoes proteolytic cleavage; the processed form is active, contrary to the uncleaved form.;Phosphorylation on Ser-1180 by SRPK2 up-regulates its stimulatory effect on cyclin A1.;ACIN1 is phosphorylated by SRPK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA RNA transport;mRNA surveillance pathway;Spliceosome;Apoptotic cleavage of cellular proteins PE1 14 +NX_Q9UKV5 E3 ubiquitin-protein ligase AMFR 643 72996 5.95 7 Endoplasmic reticulum;Golgi apparatus;Endoplasmic reticulum membrane NA E3 ubiquitin-protein ligase that mediates the polyubiquitination of a number of proteins such as CD3D, CYP3A4, CFTR and APOB for proteasomal degradation. Component of a VCP/p97-AMFR/gp78 complex that participates in the final step of endoplasmic reticulum-associated degradation (ERAD). The VCP/p97-AMFR/gp78 complex is involved in the sterol-accelerated ERAD degradation of HMGCR through binding to the HMGCR-INSIG complex at the ER membrane and initiating ubiquitination of HMGCR. The ubiquitinated HMGCR is then released from the ER by the complex into the cytosol for subsequent destruction. Also regulates ERAD through the ubiquitination of UBL4A a component of the BAG6/BAT3 complex. Also acts as a scaffold protein to assemble a complex that couples ubiquitination, retranslocation and deglycosylation. Mediates tumor invasion and metastasis as a receptor for the GPI/autocrine motility factor. In association with LMBR1L and UBAC2, negatively regulates the canonical Wnt signaling pathway in the lymphocytes by promoting the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6 (PubMed:31073040). Palmitoylation of the RING-type zing finger by ZDHHC6 promotes localization to the peripheral endoplasmic reticulum. NA Protein modification; protein ubiquitination.;Protein processing in endoplasmic reticulum;ER Quality Control Compartment (ERQC);N-glycan trimming in the ER and Calnexin/Calreticulin cycle PE1 16 +NX_Q9UKV8 Protein argonaute-2 859 97208 9.32 0 Nucleoplasm;P-body;Cell junction;Nucleus NA Required for RNA-mediated gene silencing (RNAi) by the RNA-induced silencing complex (RISC). The 'minimal RISC' appears to include AGO2 bound to a short guide RNA such as a microRNA (miRNA) or short interfering RNA (siRNA). These guide RNAs direct RISC to complementary mRNAs that are targets for RISC-mediated gene silencing. The precise mechanism of gene silencing depends on the degree of complementarity between the miRNA or siRNA and its target. Binding of RISC to a perfectly complementary mRNA generally results in silencing due to endonucleolytic cleavage of the mRNA specifically by AGO2. Binding of RISC to a partially complementary mRNA results in silencing through inhibition of translation, and this is independent of endonuclease activity. May inhibit translation initiation by binding to the 7-methylguanosine cap, thereby preventing the recruitment of the translation initiation factor eIF4-E. May also inhibit translation initiation via interaction with EIF6, which itself binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit. The inhibition of translational initiation leads to the accumulation of the affected mRNA in cytoplasmic processing bodies (P-bodies), where mRNA degradation may subsequently occur. In some cases RISC-mediated translational repression is also observed for miRNAs that perfectly match the 3' untranslated region (3'-UTR). Can also up-regulate the translation of specific mRNAs under certain growth conditions. Binds to the AU element of the 3'-UTR of the TNF (TNF-alpha) mRNA and up-regulates translation under conditions of serum starvation. Also required for transcriptional gene silencing (TGS), in which short RNAs known as antigene RNAs or agRNAs direct the transcriptional repression of complementary promoter regions. Hydroxylated. 4-hydroxylation appears to enhance protein stability but is not required for miRNA-binding or endonuclease activity. Belongs to the argonaute family. Ago subfamily. MAPK6/MAPK4 signaling;Transcriptional regulation by small RNAs;MicroRNA (miRNA) biogenesis;Pre-NOTCH Transcription and Translation;Small interfering RNA (siRNA) biogenesis;TP53 Regulates Metabolic Genes;Ca2+ pathway;Post-transcriptional silencing by small RNAs;Regulation of RUNX1 Expression and Activity;Regulation of PTEN mRNA translation;Competing endogenous RNAs (ceRNAs) regulate PTEN translation;Estrogen-dependent gene expression;Transcriptional Regulation by MECP2;Regulation of MECP2 expression and activity PE1 8 +NX_Q9UKW4 Guanine nucleotide exchange factor VAV3 847 97776 6.65 0 NA NA Exchange factor for GTP-binding proteins RhoA, RhoG and, to a lesser extent, Rac1. Binds physically to the nucleotide-free states of those GTPases. Plays an important role in angiogenesis. Its recruitment by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly (By similarity). May be important for integrin-mediated signaling, at least in some cell types. In osteoclasts, along with SYK tyrosine kinase, required for signaling through integrin alpha-v/beta-1 (ITAGV-ITGB1), a crucial event for osteoclast proper cytoskeleton organization and function. This signaling pathway involves RAC1, but not RHO, activation. Necessary for proper wound healing. In the course of wound healing, required for the phagocytotic cup formation preceding macrophage phagocytosis of apoptotic neutrophils. Responsible for integrin beta-2 (ITGB2)-mediated macrophage adhesion and, to a lesser extent, contributes to beta-3 (ITGB3)-mediated adhesion. Does not affect integrin beta-1 (ITGB1)-mediated adhesion (By similarity). Phosphorylated. Phosphorylation can be mediated by ROS1. In osteoclasts, undergoes tyrosine phosphorylation in response to CSF1 (By similarity).;VAV3 is phosphorylated by ROS1 (Phosphotyrosine:PTM-0255) NA Chemokine signaling pathway;Focal adhesion;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Leukocyte transendothelial migration;Regulation of actin cytoskeleton;Regulation of actin dynamics for phagocytic cup formation;GPVI-mediated activation cascade;EPH-ephrin mediated repulsion of cells;Rho GTPase cycle;NRAGE signals death through JNK;DAP12 signaling;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;G alpha (12/13) signalling events;VEGFA-VEGFR2 Pathway;VEGFR2 mediated vascular permeability PE1 1 +NX_Q9UKW6 ETS-related transcription factor Elf-5 265 31263 5.81 0 Nucleoplasm;Nucleus NA Binds to DNA sequences containing the consensus nucleotide core sequence GGA[AT]. Transcriptionally activates SPRR2A and the parotid gland-specific PSP promoters.;Transcriptionally activator that may play a role in regulating the later stages of keratinocytes terminal differentiation. NA Belongs to the ETS family. NA PE1 11 +NX_Q9UKX2 Myosin-2 1941 223044 5.64 0 Cytoplasm;Myofibril Myopathy, proximal, and ophthalmoplegia Muscle contraction. Required for cytoskeleton organization (By similarity). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Tight junction;Viral myocarditis;Regulation of actin dynamics for phagocytic cup formation PE1 17 +NX_Q9UKX3 Myosin-13 1938 223605 5.54 0 Myofibril NA Fast twitching myosin mediating the high-velocity and low-tension contractions of specific striated muscles. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Tight junction;Viral myocarditis PE1 17 +NX_Q9UKX5 Integrin alpha-11 1188 133470 6.24 1 Membrane NA Integrin alpha-11/beta-1 is a receptor for collagen. NA Belongs to the integrin alpha chain family. Focal adhesion;ECM-receptor interaction;Regulation of actin cytoskeleton;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Integrin cell surface interactions PE1 15 +NX_Q9UKX7 Nuclear pore complex protein Nup50 468 50144 6.64 0 Nucleoplasm;Nucleus membrane;Nuclear pore complex NA Component of the nuclear pore complex that has a direct role in nuclear protein import (PubMed:20016008). Actively displaces NLSs from importin-alpha, and facilitates disassembly of the importin-alpha:beta-cargo complex and importin recycling (PubMed:20016008). Interacts with regulatory proteins of cell cycle progression including CDKN1B (By similarity). This interaction is required for correct intracellular transport and degradation of CDKN1B (By similarity). NA NA RNA transport;ISG15 antiviral mechanism;Rev-mediated nuclear export of HIV RNA;Viral Messenger RNA Synthesis;Regulation of Glucokinase by Glucokinase Regulatory Protein;Nuclear import of Rev protein;Vpr-mediated nuclear import of PICs;SUMOylation of DNA damage response and repair proteins;Nuclear Pore Complex (NPC) Disassembly;Regulation of HSF1-mediated heat shock response;Transcriptional regulation by small RNAs;snRNP Assembly;Transport of the SLBP independent Mature mRNA;Transport of the SLBP Dependant Mature mRNA;Transport of Mature mRNA Derived from an Intronless Transcript;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Ribonucleoproteins into the Host Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;NS1 Mediated Effects on Host Pathways;tRNA processing in the nucleus;Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC);SUMOylation of RNA binding proteins;SUMOylation of DNA replication proteins;SUMOylation of chromatin organization proteins;SUMOylation of ubiquitinylation proteins;SUMOylation of SUMOylation proteins PE1 22 +NX_Q9UKY0 Prion-like protein doppel 176 20293 9.24 0 Cell membrane NA Required for normal acrosome reaction and for normal male fertility (By similarity). Can bind Cu(2+) (PubMed:15218028, PubMed:20411530). O-glycosylated.;N-glycosylated. N-glycosylated at two distinct sites. Belongs to the prion family. Post-translational modification: synthesis of GPI-anchored proteins PE1 20 +NX_Q9UKY1 Zinc fingers and homeoboxes protein 1 873 98098 5.76 0 Nucleoplasm;Nucleus NA Acts as a transcriptional repressor. Increases DNMT3B-mediated repressive transcriptional activity when DNMT3B is tethered to DNA. May link molecule between DNMT3B and other co-repressor proteins. NA Belongs to the ZHX family. NA PE1 8 +NX_Q9UKY3 Putative inactive carboxylesterase 4 287 30679 7.83 0 Secreted NA Has no esterase activity. NA Belongs to the type-B carboxylesterase/lipase family. NA PE5 16 +NX_Q9UKY4 Protein O-mannosyl-transferase 2 750 84214 9.25 10 Endoplasmic reticulum membrane Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2;Muscular dystrophy-dystroglycanopathy limb-girdle C2 Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient (PubMed:14699049, PubMed:28512129). Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins (PubMed:28512129). N-glycosylated. Belongs to the glycosyltransferase 39 family. Protein modification; protein glycosylation.;Other types of O-glycan biosynthesis;Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2;O-linked glycosylation;Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 PE1 14 +NX_Q9UKY7 Protein CDV3 homolog 258 27335 6.06 0 Cytoplasm;Cytosol;Nucleolus;Cell membrane NA NA NA Belongs to the CDV3 family. NA PE1 3 +NX_Q9UKZ1 CCR4-NOT transcription complex subunit 11 510 55215 5.99 0 Cytoplasm;Nucleoplasm;Nucleus NA Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Is required for the association of CNOT10 with the CCR4-NOT complex. Seems not to be required for complex deadenylase function. NA Belongs to the CNOT11 family. Deadenylation of mRNA;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 2 +NX_Q9UKZ4 Teneurin-1 2725 305011 5.98 1 Cytoplasm;Nucleus speckle;Cell membrane;Nucleus matrix;Nucleus;Cytoskeleton NA Involved in neural development, regulating the establishment of proper connectivity within the nervous system. May function as a cellular signal transducer (By similarity).;Ten-1 intracellular domain: Induces gene transcription activation.;Teneurin C-terminal-associated peptide: Plays a role in the regulation of neuroplasticity in the limbic system. Mediates a rapid reorganization of actin- and tubulin-based cytoskeleton elements with an increase in dendritic arborization and spine density formation of neurons in the hippocampus and amygdala. Induces BDNF transcription inhibition in neurons. Activates the mitogen-activated protein (MAP) kinase 2 (MEK2) and extracellular signal-regulated kinase (ERK) cascade. Acts also as a bioactive neuroprotective peptide on limbic neurons of the brain and regulates stress-induced behavior: attenuates alkalosis-associated necrotic cell death and the effects of corticotropin-releasing factor (CRF) on c-fos/FOS induction and on the reinstatement of cocaine seeking (By similarity). Teneurin C-terminal-associated peptide: Derives from the plasma membrane form by proteolytic processing. Further proteolytic cleavage may be generated (By similarity). Belongs to the tenascin family. Teneurin subfamily. NA PE1 X +NX_Q9UKZ9 Procollagen C-endopeptidase enhancer 2 415 45717 8.81 0 Nucleoplasm;Cytosol;Secreted NA Binds to the C-terminal propeptide of types I and II procollagens and may enhance the cleavage of that propeptide by BMP1. O-glycosylated; contains sialic acid. NA Collagen biosynthesis and modifying enzymes PE1 3 +NX_Q9UL01 Dermatan-sulfate epimerase 958 109773 8.23 2 Membrane;Nucleoplasm;Cytosol Ehlers-Danlos syndrome, musculocontractural type 2 Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. NA Belongs to the dermatan-sulfate isomerase family. Glycan metabolism; chondroitin sulfate biosynthesis.;Glycan metabolism; heparan sulfate biosynthesis.;Glycosaminoglycan biosynthesis - chondroitin sulfate;Dermatan sulfate biosynthesis PE1 6 +NX_Q9UL03 Integrator complex subunit 6 887 100390 8.79 0 Nucleoplasm;Nucleus;Cytoskeleton NA Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267). May have a tumor suppressor role; an ectopic expression suppressing tumor cell growth (PubMed:15254679, PubMed:16239144). NA Belongs to the Integrator subunit 6 family. RNA polymerase II transcribes snRNA genes PE1 13 +NX_Q9UL12 Sarcosine dehydrogenase, mitochondrial 918 101037 6.8 0 Mitochondrion matrix;Mitochondrion Sarcosinemia NA NA Belongs to the GcvT family. Amine and polyamine degradation; sarcosine degradation; formaldehyde and glycine from sarcosine: step 1/1.;Glycine, serine and threonine metabolism;Metabolic pathways;Choline catabolism PE1 9 +NX_Q9UL15 BAG family molecular chaperone regulator 5 447 51200 5.76 0 Cytoplasmic vesicle NA Inhibits both auto-ubiquitination of PRKN and ubiquitination of target proteins by PRKN (By similarity). May function as a nucleotide exchange factor for HSP/HSP70, promoting ADP release, and activating Hsp70-mediated refolding. NA NA Regulation of HSF1-mediated heat shock response PE1 14 +NX_Q9UL16 Cilia- and flagella-associated protein 45 551 65730 8.94 0 Nucleoplasm;Cilium NA NA NA Belongs to the CFAP45 family. NA PE1 1 +NX_Q9UL17 T-box transcription factor TBX21 535 58328 5.67 0 Nucleus Asthma, with nasal polyps and aspirin intolerance Lineage-defining transcription factor which initiates Th1 lineage development from naive Th precursor cells both by activating Th1 genetic programs and by repressing the opposing Th2 and Th17 genetic programs (PubMed:10761931). Activates transcription of a set of genes important for Th1 cell function, including those encoding IFN-gamma and the chemokine receptor CXCR3. Activates IFNG and CXCR3 genes in part by recruiting chromatin remodeling complexes including KDM6B, a SMARCA4-containing SWI/SNF-complex, and an H3K4me2-methyltransferase complex to their promoters and all of these complexes serve to establish a more permissive chromatin state conducive with transcriptional activation (By similarity). Can activate Th1 genes also via recruitment of Mediator complex and P-TEFb (composed of CDK9 and CCNT1/cyclin-T1) in the form of the super elongation complex (SEC) to super-enhancers and associated genes in activated Th1 cells (PubMed:27292648). Inhibits the Th17 cell lineage commitment by blocking RUNX1-mediated transactivation of Th17 cell-specific transcriptinal regulator RORC. Inhibits the Th2 cell lineage commitment by suppressing the production of Th2 cytokines, such as IL-4, IL-5, and IL- 13, via repression of transcriptional regulators GATA3 and NFATC2. Protects Th1 cells from amplifying aberrant type-I IFN response in an IFN-gamma abundant microenvironment by acting as a repressor of type-I IFN transcription factors and type-I IFN-stimulated genes. Acts as a regulator of antiviral B-cell responses; controls chronic viral infection by promoting the antiviral antibody IgG2a isotype switching and via regulation of a broad antiviral gene expression program (By similarity). Ubiquitinated at Lys-314, leading to its degradation by the proteasome. Ubiquitination is essential for controlling protein stability, binding to the T-box-binding element of the IFN-gamma promoter, and for interaction with NFATC2 through induction of phosphorylation at Thr-303 (By similarity). Deubiquitinated by USP10 leading to its stabilization (PubMed:24845384).;Phosphorylations at Ser-53, Tyr-77, Ser-225 and Ser-513 are regulated by mTORC1. Phosphorylation at Tyr-530 is essential for its interaction GATA3. Phosphorylation at Tyr-220, Tyr-266 and Tyr-305 enhances its transcriptional activator activity. Phosphorylation at Thr-303 is required for its interaction with NFATC2. NA NA PE1 17 +NX_Q9UL18 Protein argonaute-1 857 97214 9.27 0 P-body NA Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) or short interfering RNAs (siRNAs), and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Also required for transcriptional gene silencing (TGS) of promoter regions which are complementary to bound short antigene RNAs (agRNAs). NA Belongs to the argonaute family. Ago subfamily. MAPK6/MAPK4 signaling;Transcriptional regulation by small RNAs;Oxidative Stress Induced Senescence;MicroRNA (miRNA) biogenesis;Pre-NOTCH Transcription and Translation;Small interfering RNA (siRNA) biogenesis;TP53 Regulates Metabolic Genes;Ca2+ pathway;Post-transcriptional silencing by small RNAs;Oncogene Induced Senescence;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Regulation of RUNX1 Expression and Activity;Regulation of PTEN mRNA translation;Competing endogenous RNAs (ceRNAs) regulate PTEN translation;Estrogen-dependent gene expression;Transcriptional Regulation by MECP2;Regulation of MECP2 expression and activity PE1 1 +NX_Q9UL19 Phospholipase A and acyltransferase 4 164 18179 8.78 1 Membrane NA Exhibits both phospholipase A1/2 and acyltransferase activities (PubMed:19615464, PubMed:22605381, PubMed:22825852, PubMed:26503625). Shows phospholipase A1 (PLA1) and A2 (PLA2), catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids (PubMed:19615464, PubMed:22605381, PubMed:22825852). For most substrates, PLA1 activity is much higher than PLA2 activity (PubMed:19615464). Shows O-acyltransferase activity, catalyzing the transfer of a fatty acyl group from glycerophospholipid to the hydroxyl group of lysophospholipid (PubMed:19615464). Shows N-acyltransferase activity, catalyzing the calcium-independent transfer of a fatty acyl group at the sn-1 position of phosphatidylcholine (PC) and other glycerophospholipids to the primary amine of phosphatidylethanolamine (PE), forming N-acylphosphatidylethanolamine (NAPE), which serves as precursor for N-acylethanolamines (NAEs) (PubMed:19615464, PubMed:22605381, PubMed:22825852). Promotes keratinocyte differentiation via activation of TGM1 (PubMed:17762858). NA Belongs to the H-rev107 family. Acyl chain remodelling of PE PE1 11 +NX_Q9UL25 Ras-related protein Rab-21 225 24348 8.11 0 trans-Golgi network;Endoplasmic reticulum membrane;Cleavage furrow;Cytoplasmic vesicle membrane;Endosome;Golgi apparatus membrane;Early endosome membrane;Neuron projection NA Regulates integrin internalization and recycling, but does not influence the traffic of endosomally translocated receptors in general (By similarity). As a result, may regulate cell adhesion and migration (By similarity). During the mitosis of adherent cells, controls the endosomal trafficking of integrins which is required for the successful completion of cytokinesis (PubMed:18804435). Involved in neurite growth (By similarity). Following SBF2/MTMT13-mediated activation in response to starvation-induced autophagy, binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion (PubMed:25648148). NA Belongs to the small GTPase superfamily. Rab family. RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation PE1 12 +NX_Q9UL26 Ras-related protein Rab-22A 194 21855 8.32 0 Endosome membrane;Cell membrane;Phagosome membrane;Early endosome;Centrosome;Phagosome;Late endosome;Ruffle;Cytoplasmic vesicle NA Plays a role in endocytosis and intracellular protein transport. Mediates trafficking of TF from early endosomes to recycling endosomes (PubMed:16537905). Required for NGF-mediated endocytosis of NTRK1, and subsequent neurite outgrowth (PubMed:21849477). Binds GTP and GDP and has low GTPase activity. Alternates between a GTP-bound active form and a GDP-bound inactive form (PubMed:16537905). NA Belongs to the small GTPase superfamily. Rab family. Endocytosis;RAB geranylgeranylation PE1 20 +NX_Q9UL33 Trafficking protein particle complex subunit 2-like protein 140 16146 6.28 0 Golgi apparatus;Endoplasmic reticulum;Cytoplasmic vesicle;Cytosol;Perinuclear region Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis Plays a role in vesicular transport from endoplasmic reticulum to Golgi. NA Belongs to the TRAPP small subunits family. Sedlin subfamily. COPII-mediated vesicle transport;RAB GEFs exchange GTP for GDP on RABs PE1 16 +NX_Q9UL36 Zinc finger protein 236 1845 203704 8.46 0 Nucleoplasm;Cytosol;Cell junction;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 18 +NX_Q9UL40 Zinc finger protein 346 294 32933 9.24 0 Cytoplasm;Nucleolus NA Binds with low affinity to dsDNA and ssRNA, and with high affinity to dsRNA, with no detectable sequence specificity (PubMed:24521053). May bind to specific miRNA hairpins (PubMed:28431233). NA NA NA PE1 5 +NX_Q9UL41 Paraneoplastic antigen Ma3 463 52376 9.59 0 Nucleolus;Nucleus NA NA NA Belongs to the PNMA family. NA PE1 X +NX_Q9UL42 Paraneoplastic antigen Ma2 364 41509 4.84 0 Nucleolus NA NA NA Belongs to the PNMA family. NA PE1 8 +NX_Q9UL45 Biogenesis of lysosome-related organelles complex 1 subunit 6 172 19744 6.01 0 Membrane;Cytoplasm Hermansky-Pudlak syndrome 9 Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process. Phosphorylated. Belongs to the BLOC1S6 family. Golgi Associated Vesicle Biogenesis PE1 15 +NX_Q9UL46 Proteasome activator complex subunit 2 239 27402 5.54 0 Nucleoplasm NA Implicated in immunoproteasome assembly and required for efficient antigen processing. The PA28 activator complex enhances the generation of class I binding peptides by altering the cleavage pattern of the proteasome. NA Belongs to the PA28 family. Proteasome;Antigen processing and presentation;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 14 +NX_Q9UL49 Transcription factor-like 5 protein 500 52697 6.44 0 Nucleoplasm;Nucleus NA Putative transcription factor.;May play a role in early spermatogenesis. NA NA NA PE1 20 +NX_Q9UL51 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 889 96950 9.15 6 Cell membrane NA Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). Can also transport ammonium in the distal nephron. Produces a large instantaneous current. Modulated by intracellular chloride ions and pH; acidic pH shifts the activation to more negative voltages (By similarity). Phosphorylation at Ser-668 by PRKG2 shifts the voltage-dependence to more negative voltages, hence counteracting the stimulatory effect of cGMP on gating. Belongs to the potassium channel HCN family. HCN channels PE1 19 +NX_Q9UL52 Transmembrane protease serine 11E 423 47696 8.85 1 Secreted;Cell membrane NA Serine protease which possesses both gelatinolytic and caseinolytic activities. Shows a preference for Arg in the P1 position. N-glycosylated. Belongs to the peptidase S1 family. NA PE1 4 +NX_Q9UL54 Serine/threonine-protein kinase TAO2 1235 138251 6.84 5 Nucleolus;Nucleoplasm;Cytoplasmic vesicle membrane;Cytosol;Dendrite;Nucleus;Cytoskeleton NA Binds to microtubules and affects their organization and stability independently of its kinase activity. Prevents MAP3K7-mediated activation of CHUK, and thus NF-kappa-B activation, but not that of MAPK8/JNK. May play a role in the osmotic stress-MAPK8 pathway.;But not isoform 2, plays a role in apoptotic morphological changes, including cell contraction, membrane blebbing and apoptotic bodies formation. This function, which requires the activation of MAPK8/JNK and nuclear localization of C-terminally truncated isoform 1, may be linked to the mitochondrial CASP9-associated death pathway.;But not isoform 1, is required for PCDH8 endocytosis. Following homophilic interactions between PCDH8 extracellular domains, isoform 2 phosphorylates and activates MAPK14/p38 MAPK which in turn phosphorylates isoform 2. This process leads to PCDH8 endocytosis and CDH2 cointernalization. Both isoforms are involved in MAPK14 phosphorylation.;Serine/threonine-protein kinase involved in different processes such as membrane blebbing and apoptotic bodies formation DNA damage response and MAPK14/p38 MAPK stress-activated MAPK cascade. Phosphorylates itself, MBP, activated MAPK8, MAP2K3, MAP2K6 and tubulins. Activates the MAPK14/p38 MAPK signaling pathway through the specific activation and phosphorylation of the upstream MAP2K3 and MAP2K6 kinases. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of upstream MAP2K3 and MAP2K6 kinases. Autophosphorylated. Phosphorylated by ATM.;C-terminal cleavage of isoform 1 and subsequent nuclear localization requires CASP9 activity.;Isoforms 1 and 2 are autophosphorylated.;Phosphorylated on Ser-1031 by MAPK14. This phosphorylation is required PCDH8 for endocytosis (By similarity). Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. MAPK signaling pathway PE1 16 +NX_Q9UL58 Zinc finger protein 215 517 60034 8.96 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 11 +NX_Q9UL59 Zinc finger protein 214 606 70992 8.84 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 11 +NX_Q9UL62 Short transient receptor potential channel 5 973 111412 6.94 6 Cell membrane NA Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Has also been shown to be calcium-selective (By similarity). May also be activated by intracellular calcium store depletion. NA Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC5 sub-subfamily. TRP channels;Role of second messengers in netrin-1 signaling PE1 X +NX_Q9UL63 Muskelin 735 84768 5.91 0 Cytoplasm;Cell cortex;Cell membrane;Nucleoplasm;Synapse;Ruffle;Cytoplasmic vesicle;Cytosol NA Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Required for internalization of the GABA receptor GABRA1 from the cell membrane via endosomes and subsequent GABRA1 degradation (By similarity). Acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component THBS1 (PubMed:18710924). NA NA NA PE1 7 +NX_Q9UL68 Myelin transcription factor 1-like protein 1186 133043 4.86 0 Cytoplasmic vesicle;Nucleus;Chromosome Mental retardation, autosomal dominant 39 Transcription factor that plays a key role in neuronal differentiation by specifically repressing expression of non-neuronal genes during neuron differentiation. In contrast to other transcription repressors that inhibit specific lineages, mediates repression of multiple differentiation programs. Also represses expression of negative regulators of neurogenesis, such as members of the Notch signaling pathway, including HES1. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Directly binds the 5'-AAGTT-3' core motif present on the promoter of target genes and represses transcription by recruiting a multiprotein complex containing SIN3B. The 5'-AAGTT-3' core motif is absent from the promoter of neural genes. NA Belongs to the MYT1 family. NA PE1 2 +NX_Q9ULA0 Aspartyl aminopeptidase 475 52428 7.03 0 Cytoplasm;Cytosol NA Aminopeptidase with specificity towards an acidic amino acid at the N-terminus. Likely to play an important role in intracellular protein and peptide metabolism. NA Belongs to the peptidase M18 family. NA PE1 2 +NX_Q9ULB1 Neurexin-1 1477 161883 5.61 1 Presynaptic cell membrane;Cell membrane Schizophrenia 17;Pitt-Hopkins-like syndrome 2 Cell surface protein involved in cell-cell-interactions, exocytosis of secretory granules and regulation of signal transmission. Function is isoform-specific. Alpha-type isoforms have a long N-terminus with six laminin G-like domains and play an important role in synaptic signal transmission. Alpha-type isoforms play a role in the regulation of calcium channel activity and Ca(2+)-triggered neurotransmitter release at synapses and at neuromuscular junctions. They play an important role in Ca(2+)-triggered exocytosis of secretory granules in pituitary gland. They may effect their functions at synapses and in endocrine cells via their interactions with proteins from the exocytotic machinery. Likewise, alpha-type isoforms play a role in regulating the activity of postsynaptic NMDA receptors, a subtype of glutamate-gated ion channels. Both alpha-type and beta-type isoforms may play a role in the formation or maintenance of synaptic junctions via their calcium-dependent interactions (via the extracellular domains) with neuroligin family members, CBLN1 or CBLN2. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Alpha-type isoforms were first identified as receptors for alpha-latrotoxin from spider venom (By similarity). N-glycosylated.;O-glycosylated.;NRXN1 is phosphorylated by CASK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the neurexin family. Cell adhesion molecules (CAMs);Non-integrin membrane-ECM interactions;Neurexins and neuroligins PE1 2 +NX_Q9ULB4 Cadherin-9 789 88689 4.73 1 Cell membrane NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. NA NA Adherens junctions interactions PE1 5 +NX_Q9ULB5 Cadherin-7 785 87086 4.64 1 Cell membrane NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. NA NA Adherens junctions interactions PE1 18 +NX_Q9ULC0 Endomucin 261 27452 7.72 1 Membrane;Secreted;Cell membrane NA Endothelial sialomucin, also called endomucin or mucin-like sialoglycoprotein, which interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix. Highly O-glycosylated. Sialic acid-rich glycoprotein. NA NA PE1 4 +NX_Q9ULC3 Ras-related protein Rab-23 237 26659 6.22 0 Cytoplasm;Cell membrane;Endosome membrane;Phagosome membrane;Autophagosome;Phagosome;Cytosol Carpenter syndrome 1 The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise, regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture by autophagosomes that then merge with lysosomes. NA Belongs to the small GTPase superfamily. Rab family. Hedgehog signaling pathway;RAB geranylgeranylation PE1 6 +NX_Q9ULC4 Malignant T-cell-amplified sequence 1 181 20555 8.98 0 Cytoplasm;Cytosol;Cell membrane NA Anti-oncogene that plays a role in cell cycle regulation; decreases cell doubling time and anchorage-dependent growth; shortens the duration of G1 transit time and G1/S transition. When constitutively expressed, increases CDK4 and CDK6 kinases activity and CCND1/cyclin D1 protein level, as well as G1 cyclin/CDK complex formation. Involved in translation initiation; promotes recruitment of aminoacetyled initiator tRNA to P site of 40S ribosomes. Can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated dissociation of post-termination ribosomal complexes into subunits. Plays a role as translation enhancer; recruits the density-regulated protein/DENR and binds to the cap complex of the 5'-terminus of mRNAs, subsequently altering the mRNA translation profile; up-regulates protein levels of BCL2L2, TFDP1, MRE11, CCND1 and E2F1, while mRNA levels remains constant. Hyperactivates DNA damage signaling pathway; increased gamma-irradiation-induced phosphorylation of histone H2AX, and induces damage foci formation. Increases the overall number of chromosomal abnormalities such as larger chromosomes formation and multiples chromosomal fusions when overexpressed in gamma-irradiated cells. May play a role in promoting lymphoid tumor development: lymphoid cell lines overexpressing MCTS1 exhibit increased growth rates and display increased protection against apoptosis. May contribute to the pathogenesis and progression of breast cancer via promotion of angiogenesis through the decline of inhibitory THBS1/thrombospondin-1, and inhibition of apoptosis. Involved in the process of proteasome degradation to down-regulate Tumor suppressor p53/TP53 in breast cancer cell; Positively regulates phosphorylation of MAPK1 and MAPK3. Involved in translation initiation; promotes aminoacetyled initiator tRNA to P site of 40S ribosomes. Can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated dissociation of post-termination ribosomal complexes into subunits. Phosphorylation is critical for stabilization and promotion of cell proliferation. Belongs to the MCTS1 family. NA PE1 X +NX_Q9ULC5 Long-chain-fatty-acid--CoA ligase 5 683 75991 6.49 1 Mitochondrion outer membrane;Mitochondrion;Endoplasmic reticulum membrane;Cell membrane;Nucleoplasm;Endoplasmic reticulum NA Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:17681178, PubMed:24269233, PubMed:22633490). ACSL5 may activate fatty acids from exogenous sources for the synthesis of triacylglycerol destined for intracellular storage (By similarity). Utilizes a wide range of saturated fatty acids with a preference for C16-C18 unsaturated fatty acids (By similarity). It was suggested that it may also stimulate fatty acid oxidation (By similarity). At the villus tip of the crypt-villus axis of the small intestine may sensitize epithelial cells to apoptosis specifically triggered by the death ligand TRAIL. May have a role in the survival of glioma cells. NA Belongs to the ATP-dependent AMP-binding enzyme family. Fatty acid metabolism;Metabolic pathways;PPAR signaling pathway;Peroxisome;Adipocytokine signaling pathway;Synthesis of very long-chain fatty acyl-CoAs PE1 10 +NX_Q9ULC6 Protein-arginine deiminase type-1 663 74666 6.07 0 Nucleoplasm;Cytosol;Cytoplasm NA Catalyzes the deimination of arginine residues of proteins. NA Belongs to the protein arginine deiminase family. Chromatin modifying enzymes PE1 1 +NX_Q9ULC8 Probable palmitoyltransferase ZDHHC8 765 81443 9.33 4 Nucleoplasm;Cytosol;Cytoplasmic vesicle membrane NA Palmitoyltransferase involved in glutamatergic transmission. Mediates palmitoylation of ABCA1. NA Belongs to the DHHC palmitoyltransferase family. ERF2/ZDHHC9 subfamily. HDL assembly PE1 22 +NX_Q9ULD0 2-oxoglutarate dehydrogenase-like, mitochondrial 1010 114481 6.18 0 Mitochondrion matrix;Nucleolus NA NA NA Belongs to the alpha-ketoglutarate dehydrogenase family. Citrate cycle (TCA cycle);Lysine degradation;Tryptophan metabolism;Metabolic pathways PE1 10 +NX_Q9ULD2 Microtubule-associated tumor suppressor 1 1270 141397 7.33 0 Golgi apparatus;Mitochondrion;Cell membrane;Nucleolus;Centrosome;Spindle;Nucleus;Cytoskeleton Hepatocellular carcinoma Inhibits breast cancer cell proliferation, delays the progression of mitosis by prolonging metaphase and reduces tumor growth.;Cooperates with AGTR2 to inhibit ERK2 activation and cell proliferation. May be required for AGTR2 cell surface expression. Together with PTPN6, induces UBE2V2 expression upon angiotensin-II stimulation. NA Belongs to the MTUS1 family. NA PE1 8 +NX_Q9ULD4 Bromodomain and PHD finger-containing protein 3 1205 135745 6.17 0 Nucleoplasm;Mitochondrion NA Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. NA NA HATs acetylate histones;Platelet degranulation;Regulation of TP53 Activity through Acetylation PE1 6 +NX_Q9ULD5 Zinc finger protein 777 831 93762 6.16 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_Q9ULD6 Protein inturned 942 105648 5.59 0 Cell surface;Cytoplasm;Cilium basal body;Cytoplasmic vesicle Short-rib thoracic dysplasia 20 with polydactyly;Orofaciodigital syndrome 17;Short-rib thoracic dysplasia 7/20 with polydactyly, digenic Plays a key role in ciliogenesis and embryonic development. Regulator of cilia formation by controlling the organization of the apical actin cytoskeleton and the positioning of the basal bodies at the apical cell surface, which in turn is essential for the normal orientation of elongating ciliary microtubules. Plays a key role in definition of cell polarity via its role in ciliogenesis but not via conversion extension. Has an indirect effect on hedgehog signaling (By similarity). Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (PubMed:27158779). NA Belongs to the inturned family. Hedgehog 'off' state PE1 4 +NX_Q9ULD8 Potassium voltage-gated channel subfamily H member 3 1083 117129 8.25 6 Membrane;Nucleoplasm;Mitochondrion NA Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current with fast inactivation. Channel properties may be modulated by cAMP and subunit assembly. NA Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.2/KCNH3 sub-subfamily. Voltage gated Potassium channels PE1 12 +NX_Q9ULD9 Zinc finger protein 608 1512 162208 8.92 0 Nucleoplasm;Mitochondrion NA Transcription factor, which represses ZNF609 transcription. NA NA NA PE1 5 +NX_Q9ULE0 Protein WWC3 1092 122676 6 0 Cytosol;Cytoskeleton NA NA NA Belongs to the WWC family. NA PE1 X +NX_Q9ULE3 DENN domain-containing protein 2A 1009 113853 9.11 0 Cytoskeleton NA Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May play a role in late endosomes back to trans-Golgi network/TGN transport. NA NA RAB GEFs exchange GTP for GDP on RABs PE1 7 +NX_Q9ULE4 Protein FAM184B 1060 121044 5.87 0 NA NA NA NA Belongs to the FAM184 family. NA PE1 4 +NX_Q9ULE6 Paladin 856 96754 6.08 0 Cytosol NA NA NA Belongs to the paladin family. NA PE1 10 +NX_Q9ULF5 Zinc transporter ZIP10 831 94132 6.25 7 Membrane;Nucleoplasm;Cytosol;Cell membrane NA May act as a zinc-influx transporter. NA Belongs to the ZIP transporter (TC 2.A.5) family. Zinc influx into cells by the SLC39 gene family PE1 2 +NX_Q9ULG1 Chromatin-remodeling ATPase INO80 1556 176753 9.53 0 Cytoplasm;Chromosome;Nucleoplasm;Spindle;Nucleus NA ATPase component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and DNA repair (PubMed:16230350, PubMed:16298340, PubMed:17721549, PubMed:20855601, PubMed:20237820). Binds DNA (PubMed:16298340, PubMed:21303910). As part of the INO80 complex, remodels chromatin by shifting nucleosomes (PubMed:16230350, PubMed:21303910). Regulates transcription upon recruitment by YY1 to YY1-activated genes, where it acts as an essential coactivator (PubMed:17721549). Involved in UV-damage excision DNA repair (PubMed:20855601). The contribution to DNA double-strand break repair appears to be largely indirect through transcriptional regulation (PubMed:20687897). Involved in DNA replication (PubMed:20237820). Required for microtubule assembly during mitosis thereby regulating chromosome segregation cycle (PubMed:20237820). NA Belongs to the SNF2/RAD54 helicase family. DNA Damage Recognition in GG-NER;UCH proteinases PE1 15 +NX_Q9ULG3 Uncharacterized protein KIAA1257 409 46740 8.11 0 NA NA NA NA NA NA PE1 3 +NX_Q9ULG6 Cell cycle progression protein 1 757 87340 5.67 1 Golgi apparatus;Endoplasmic reticulum;Cytoplasmic granule membrane NA Acts as an assembly platform for Rho protein signaling complexes. Limits guanine nucleotide exchange activity of MCF2L toward RHOA, which results in an inhibition of both its transcriptional activation ability and its transforming activity. Does not inhibit activity of MCF2L toward CDC42, or activity of MCF2 toward either RHOA or CDC42 (By similarity). May be involved in cell cycle regulation. NA Belongs to the CCPG1 family. NA PE1 15 +NX_Q9ULH0 Kinase D-interacting substrate of 220 kDa 1771 196542 6.19 4 Membrane;Nucleoplasm;Late endosome Spastic paraplegia, intellectual disability, nystagmus, and obesity Promotes a prolonged MAP-kinase signaling by neurotrophins through activation of a Rap1-dependent mechanism. Provides a docking site for the CRKL-C3G complex, resulting in Rap1-dependent sustained ERK activation. May play an important role in regulating postsynaptic signal transduction through the syntrophin-mediated localization of receptor tyrosine kinases such as EPHA4. In cooperation with SNTA1 can enhance EPHA4-induced JAK/STAT activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth. May play a role in neurotrophin- and ephrin-mediated neuronal outgrowth and in axon guidance during neural development and in neuronal regeneration (By similarity). Modulates stress-induced apoptosis of melanoma cells via regulation of the MEK/ERK signaling pathway. Tyrosine phosphorylated by NTRK1, NTRK2, EPHB2 and EPHA4. Phosphorylation at Ser-918 is induced by phorbol ester treatment. Phosphorylation by NTRK2 is induced by brain-derived neurotrophic factor (BDNF) and neurotrophin-4/5. Phosphorylation by NTRK1 is induced by nerve growth factor (NGF) (By similarity).;KIDINS220 is phosphorylated by NTRK1 NA Neurotrophin signaling pathway;ARMS-mediated activation PE1 2 +NX_Q9ULH1 Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 1129 125498 6.95 0 Cytoplasm;Cell membrane;Membrane;Centrosome;Cytosol NA Possesses phosphatidylinositol 4,5-bisphosphate-dependent GTPase-activating protein activity for ARF1 (ADP ribosylation factor 1) and ARF5 and a lesser activity towards ARF6. May coordinate membrane trafficking with cell growth or actin cytoskeleton remodeling by binding to both SRC and PIP2. May function as a signal transduction protein involved in the differentiation of fibroblasts into adipocytes and possibly other cell types (By similarity). Plays a role in ciliogenesis. Phosphorylated on tyrosine residues by SRC. NA Endocytosis;Fc gamma R-mediated phagocytosis;VxPx cargo-targeting to cilium PE1 8 +NX_Q9ULH4 Leucine-rich repeat and fibronectin type-III domain-containing protein 2 789 84731 6.27 1 Membrane;Cytoplasmic vesicle;Synapse;Postsynaptic cell membrane NA Promotes neurite outgrowth in hippocampal neurons. Enhances the cell surface expression of 2 NMDA receptor subunits GRIN1 and GRIN2A. May play a role in redistributing DLG4 to the cell periphery (By similarity). Glycosylated. Belongs to the LRFN family. Synaptic adhesion-like molecules PE1 6 +NX_Q9ULH7 Myocardin-related transcription factor B 1088 118127 5.89 0 Nucleus speckle;Nucleus NA Acts as a transcriptional coactivator of serum response factor (SRF). Required for skeletal myogenic differentiation. O-glycosylated. NA NA PE1 16 +NX_Q9ULI0 ATPase family AAA domain-containing protein 2B 1458 164914 6.36 0 Nucleoplasm;Nucleus NA NA NA Belongs to the AAA ATPase family. NA PE1 2 +NX_Q9ULI1 NACHT and WD repeat domain-containing protein 2 1742 197466 5.85 0 NA NA NA NA NA NA PE1 4 +NX_Q9ULI2 Beta-citrylglutamate synthase B 386 42464 5.67 0 Nucleoplasm;Cytoplasm;Centriolar satellite NA Catalyzes the synthesis of beta-citryl-L-glutamate and N-acetyl-L-aspartyl-L-glutamate. Beta-citryl-L-glutamate is synthesized more efficiently than N-acetyl-L-aspartyl-L-glutamate. NA Belongs to the RimK family. Glutamate and glutamine metabolism PE1 12 +NX_Q9ULI3 Protein HEG homolog 1 1381 147461 5.8 1 Cytoplasmic vesicle;Cell junction;Secreted;Cell membrane NA Receptor component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity May act through the stabilization of endothelial cell junctions. NA NA NA PE1 3 +NX_Q9ULI4 Kinesin-like protein KIF26A 1882 194590 9.12 0 Nucleoplasm;Cytosol;Cell membrane;Cytoskeleton NA Atypical kinesin that plays a key role in enteric neuron development. Acts by repressing a cell growth signaling pathway in the enteric nervous system development, possibly via its interaction with GRB2 that prevents GRB2-binding to SHC, thereby attenating the GDNF-Ret signaling. Binds to microtubules but lacks microtubule-based motility due to the absence of ATPase activity (By similarity). NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KIF26 subfamily. MHC class II antigen presentation;Kinesins;COPI-dependent Golgi-to-ER retrograde traffic PE1 14 +NX_Q9ULJ1 Protein BCAP 636 73728 6.09 0 Centrosome;Centriolar satellite;Cilium basal body;Centriole NA Acts as a suppressor of ciliogenesis, specifically, the initiation of ciliogenesis. NA Belongs to the ODF2 family. NA PE1 1 +NX_Q9ULJ3 Zinc finger and BTB domain-containing protein 21 1066 118870 8.61 0 Nucleoplasm;Nucleus NA Acts as a transcription repressor. NA NA NA PE1 21 +NX_Q9ULJ6 Zinc finger MIZ domain-containing protein 1 1067 115483 7.09 0 Cytoplasm;Nucleoplasm;Nucleus speckle;Cytoplasmic vesicle NA Acts as transcriptional coactivator. Increases ligand-dependent transcriptional activity of AR and promotes AR sumoylation. The stimulation of AR activity is dependent upon sumoylation (PubMed:14609956, PubMed:26522984). Involved in transcriptional activation of a subset of NOTCH1 target genes including MYC. Involved in thymocyte and T cell development (By similarity). NA NA NA PE1 10 +NX_Q9ULJ7 Ankyrin repeat domain-containing protein 50 1429 155859 6.13 0 Nucleoplasm;Endosome;Cytosol NA Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552). NA NA NA PE1 4 +NX_Q9ULJ8 Neurabin-1 1098 123342 5.01 0 Synaptosome;Cytoskeleton;Cell membrane NA Binds to actin filaments (F-actin) and shows cross-linking activity. Binds along the sides of the F-actin. May be involved in neurite formation. Inhibits protein phosphatase 1-alpha activity (By similarity). NA NA NA PE1 7 +NX_Q9ULK0 Glutamate receptor ionotropic, delta-1 1009 112131 6.23 3 Cell membrane;Postsynaptic cell membrane NA Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. NA Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRID1 subfamily. Neuroactive ligand-receptor interaction PE1 10 +NX_Q9ULK2 Ataxin-7-like protein 1 861 91514 9.82 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA NA NA NA NA PE1 7 +NX_Q9ULK4 Mediator of RNA polymerase II transcription subunit 23 1368 156474 7.09 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle Mental retardation, autosomal recessive 18 Required for transcriptional activation subsequent to the assembly of the pre-initiation complex (By similarity). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors. Required for transcriptional activation by adenovirus E1A protein. Required for ELK1-dependent transcriptional activation in response to activated Ras signaling. NA Belongs to the Mediator complex subunit 23 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 6 +NX_Q9ULK5 Vang-like protein 2 521 59714 9.27 4 Cell membrane Neural tube defects Involved in the control of early morphogenesis and patterning of both axial midline structures and the development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the orientation of stereociliary bundles in the cochlea. Required for polarization and movement of myocardializing cells in the outflow tract and seems to act via RHOA signaling to regulate this process. Required for cell surface localization of FZD3 and FZD6 in the inner ear (By similarity). NA Belongs to the Vang family. Wnt signaling pathway;Asymmetric localization of PCP proteins;PCP/CE pathway PE1 1 +NX_Q9ULK6 RING finger protein 150 438 48072 5.11 1 Membrane NA NA NA NA NA PE1 4 +NX_Q9ULL0 Acrosomal protein KIAA1210 1709 187021 8.72 0 Acrosome NA NA NA NA NA PE1 X +NX_Q9ULL1 Pleckstrin homology domain-containing family G member 1 1385 155439 5.84 0 Nucleoplasm NA NA NA NA NA PE1 6 +NX_Q9ULL4 Plexin-B3 1909 206847 5.96 1 Cell membrane NA Receptor for SEMA5A that plays a role in axon guidance, invasive growth and cell migration. Stimulates neurite outgrowth and mediates Ca(2+)/Mg(2+)-dependent cell aggregation. In glioma cells, SEMA5A stimulation of PLXNB3 results in the disassembly of F-actin stress fibers, disruption of focal adhesions and cellular collapse as well as inhibition of cell migration and invasion through ARHGDIA-mediated inactivation of RAC1. NA Belongs to the plexin family. Axon guidance;Other semaphorin interactions PE1 X +NX_Q9ULL5 Proline-rich protein 12 2036 211044 7.94 0 Cytosol;Postsynaptic density;Nucleus;Synaptosome NA NA NA NA NA PE1 19 +NX_Q9ULL8 Protein Shroom4 1493 164857 6.2 0 Cytoplasmic vesicle;Focal adhesion;Cytoskeleton Mental retardation, X-linked, syndromic, Stocco dos Santos type Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity). NA Belongs to the shroom family. NA PE1 X +NX_Q9ULM0 Pleckstrin homology domain-containing family H member 1 1364 151232 8.17 0 Centrosome NA NA NA NA NA PE1 14 +NX_Q9ULM2 Zinc finger protein 490 529 61340 9.02 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9ULM3 YEATS domain-containing protein 2 1422 150782 9.1 0 Nucleoplasm;Nucleus NA Chromatin reader component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. YEATS2 specifically recognizes and binds histone H3 crotonylated at 'Lys-27' (H3K27cr) (PubMed:27103431). Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors (PubMed:27103431). NA NA HATs acetylate histones PE1 3 +NX_Q9ULM6 CCR4-NOT transcription complex subunit 6 557 63307 6.82 0 Cytoplasm;Cytosol;Nucleus NA Poly(A) nuclease with 3'-5' RNase activity. Catalytic component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Involved in mRNA decay mediated by the major-protein-coding determinant of instability (mCRD) of the FOS gene in the cytoplasm. In the presence of ZNF335, enhances ligand-dependent transcriptional activity of nuclear hormone receptors, including RARA. The increase of ligand-dependent ESR1-mediated transcription is much smaller, if any. Mediates cell proliferation and cell survival and prevents cellular senescence. NA Belongs to the CCR4/nocturin family. RNA degradation;Deadenylation of mRNA;Activation of anterior HOX genes in hindbrain development during early embryogenesis;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 5 +NX_Q9ULN7 Paraneoplastic antigen-like protein 8B 635 68615 5.35 0 NA NA NA NA Belongs to the PNMA family. NA PE1 19 +NX_Q9ULP0 Protein NDRG4 352 38459 5.79 0 Golgi apparatus;Nucleoplasm;Cytosol NA Contributes to the maintenance of intracerebral BDNF levels within the normal range, which is necessary for the preservation of spatial learning and the resistance to neuronal cell death caused by ischemic stress (By similarity). May enhance growth factor-induced ERK1 and ERK2 phosphorylation, including that induced by PDGF and FGF. May attenuate NGF-promoted ELK1 phosphorylation in a microtubule-dependent manner. Phosphorylated in an aortic smooth muscle cell line, following PDGF treatment. Belongs to the NDRG family. NA PE1 16 +NX_Q9ULP9 TBC1 domain family member 24 559 62919 7.14 0 Cytoplasmic vesicle membrane;Cytoplasm;Cell junction;Cell membrane Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome;Deafness, autosomal dominant, 65;Familial infantile myoclonic epilepsy;Deafness, autosomal recessive, 86;Epileptic encephalopathy, early infantile, 16 May act as a GTPase-activating protein for Rab family protein(s) (PubMed:20727515, PubMed:20797691). Involved in neuronal projections development, probably through a negative modulation of ARF6 function (PubMed:20727515). NA NA TBC/RABGAPs PE1 16 +NX_Q9ULQ0 Striatin-interacting protein 2 834 95360 5.65 0 Cytoplasm;Cytosol NA Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. NA Belongs to the STRIP family. NA PE1 7 +NX_Q9ULQ1 Two pore calcium channel protein 1 816 94147 8.47 12 Lysosome membrane;Endosome membrane NA Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca(2+) channels (VDCC) across the lysosomal and endosomal membrane. NA Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. Two pore calcium channel subfamily. Stimuli-sensing channels PE1 12 +NX_Q9ULR0 Pre-mRNA-splicing factor ISY1 homolog 285 32992 5.15 0 Nucleus speckle;Nucleus NA Component of the spliceosome C complex required for the selective processing of microRNAs during embryonic stem cell differentiation (By similarity). Required for the biogenesis of all miRNAs from the pri-miR-17-92 primary transcript except miR-92a (By similarity). Only required for the biogenesis of miR-290 and miR-96 from the pri-miR-290-295 and pri-miR-96-183 primary transcripts, respectively (By similarity). Required during the transition of embryonic stem cells (ESCs) from the naive to primed state (By similarity). By enhancing miRNA biogenesis, promotes exit of ESCs from the naive state to an intermediate state of poised pluripotency, which precedes transition to the primed state (By similarity). Involved in pre-mRNA splicing as component of the spliceosome. NA Belongs to the ISY1 family. Spliceosome;mRNA Splicing - Major Pathway;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER PE1 3 +NX_Q9ULR3 Protein phosphatase 1H 514 56448 6.14 0 Cytoplasm;Nucleoplasm;Nucleus NA Dephosphorylates CDKN1B at 'Thr-187', thus removing a signal for proteasomal degradation. NA Belongs to the PP2C family. NA PE1 12 +NX_Q9ULR5 Polyadenylate-binding protein-interacting protein 2B 123 14237 4.06 0 Cytosol NA Inhibits translation of capped and polyadenylated mRNAs by displacing PABPC1 from the poly(A) tail. Ubiquitinated in vitro. Belongs to the PAIP2 family. NA PE1 2 +NX_Q9ULS5 Transmembrane and coiled-coil domain protein 3 477 53785 8.77 2 Endoplasmic reticulum;Cytoplasmic vesicle;Endoplasmic reticulum membrane NA NA NA Belongs to the TEX28 family. NA PE1 12 +NX_Q9ULS6 Potassium voltage-gated channel subfamily S member 2 477 54237 5.58 6 Cell membrane NA Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1 and KCNB2; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 and KCNB2. NA Belongs to the potassium channel family. S (TC 1.A.1.2) subfamily. Kv9.2/KCNS2 sub-subfamily. Voltage gated Potassium channels PE1 8 +NX_Q9ULT0 Tetratricopeptide repeat protein 7A 858 96185 6.03 0 Cytoplasm;Cell membrane Gastrointestinal defects and immunodeficiency syndrome Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:24417819). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions (By similarity). NA NA NA PE1 2 +NX_Q9ULT6 E3 ubiquitin-protein ligase ZNRF3 936 100574 8.14 1 Golgi apparatus;Cell membrane NA E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination and subsequent degradation of Wnt receptor complex components Frizzled and LRP6. Acts on both canonical and non-canonical Wnt signaling pathway. Acts as a tumor suppressor in the intestinal stem cell zone by inhibiting the Wnt signaling pathway, thereby resticting the size of the intestinal stem cell zone (PubMed:22575959). Along with RSPO2 and RNF43, constitutes a master switch that governs limb specification (By similarity). NA Belongs to the ZNRF3 family. Protein modification; protein ubiquitination.;Regulation of FZD by ubiquitination PE1 22 +NX_Q9ULT8 E3 ubiquitin-protein ligase HECTD1 2610 289384 5.21 0 Nucleoplasm;Nucleolus NA E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates 'Lys-63'-linked polyubiquitination of HSP90AA1 which leads to its intracellular localization and reduced secretion. Negatively regulating HSP90AA1 secretion in cranial mesenchyme cells may impair their emigration and may be essential for the correct development of the cranial neural folds and neural tube closure. NA Belongs to the UPL family. K-HECT subfamily. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 14 +NX_Q9ULU4 Protein kinase C-binding protein 1 1186 131692 6.83 0 Golgi apparatus;Nucleoplasm;Cytoplasm;Nucleus NA May act as a transcriptional corepressor for KDM5D. Required for KDM5D-mediated down-regulation of diverse metastasis-associated genes; the function seems to involve the recognition of the dual histone signature H3K4me1-H3K14ac. Suppresses prostate cancer cell invasion. NA NA NA PE1 20 +NX_Q9ULU8 Calcium-dependent secretion activator 1 1353 152786 5.5 0 Cytoplasmic vesicle membrane;Cytoplasmic vesicle;Synapse NA Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates catecholamine loading of DCVs. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles by acting as a PtdIns(4,5)P2-binding protein that acts at prefusion step following ATP-dependent priming and participates in DCVs-membrane fusion. However, it may also participate in small clear synaptic vesicles (SVs) exocytosis and it is unclear whether its function is related to Ca(2+) triggering (By similarity). NA NA NA PE1 3 +NX_Q9ULV0 Unconventional myosin-Vb 1848 213672 6.77 0 Cytoplasm;Cell membrane Diarrhea 2, with microvillus atrophy May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Together with RAB25 regulates transcytosis. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Vasopressin regulates renal water homeostasis via Aquaporins PE1 18 +NX_Q9ULV1 Frizzled-4 537 59881 7.05 7 Membrane;Nucleoplasm;Cell membrane Vitreoretinopathy, exudative 1 Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin (CTNNB1) canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin (CTNNB1) and activation of Wnt target genes. Plays a critical role in retinal vascularization by acting as a receptor for Wnt proteins and norrin (NDP). In retina, it can be both activated by Wnt protein-binding, but also by a Wnt-independent signaling via binding of norrin (NDP), promoting in both cases beta-catenin (CTNNB1) accumulation and stimulation of LEF/TCF-mediated transcriptional programs. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Ubiquitinated by ZNRF3, leading to its degradation by the proteasome. Belongs to the G-protein coupled receptor Fz/Smo family. Wnt signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;Asymmetric localization of PCP proteins;Class B/2 (Secretin family receptors);Ca2+ pathway;Regulation of FZD by ubiquitination;WNT5A-dependent internalization of FZD4;RNF mutants show enhanced WNT signaling and proliferation;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 11 +NX_Q9ULV3 Cip1-interacting zinc finger protein 898 100045 5.77 0 Nucleoplasm;Nucleus NA May regulate the subcellular localization of CIP/WAF1. NA NA NA PE1 9 +NX_Q9ULV4 Coronin-1C 474 53249 6.65 0 Cytoplasm;Cell cortex;Cell membrane;Endosome membrane;Sarcomere;Lamellipodium;Synapse;Ruffle membrane;Sarcolemma;Cytoskeleton NA Involved in myogenic differentiation.;Plays a role in directed cell migration by regulating the activation and subcellular location of RAC1 (PubMed:25074804, PubMed:25925950). Increases the presence of activated RAC1 at the leading edge of migrating cells (PubMed:25074804, PubMed:25925950). Required for normal organization of the cytoskeleton, including the actin cytoskeleton, microtubules and the vimentin intermediate filaments (By similarity). Plays a role in endoplasmic reticulum-associated endosome fission: localizes to endosome membrane tubules and promotes recruitment of TMCC1, leading to recruitment of the endoplasmic reticulum to endosome tubules for fission (PubMed:30220460). Endosome membrane fission of early and late endosomes is essential to separate regions destined for lysosomal degradation from carriers to be recycled to the plasma membrane (PubMed:30220460). Required for normal cell proliferation, cell migration, and normal formation of lamellipodia (By similarity). Required for normal distribution of mitochondria within cells (By similarity). NA Belongs to the WD repeat coronin family. NA PE1 12 +NX_Q9ULV5 Heat shock factor protein 4 492 53011 5.29 0 Nucleus speckle;Nucleus Cataract 5, multiple types DNA-binding protein that specifically binds heat shock promoter elements (HSE).;Represses transcription while the isoform HSF4B activates transcription. Is constitutively sumoylated. Sumoylation represses the transcriptional activity and is promoted by phosphorylation on Ser-298. HSFA is not sumoylated.;Phosphorylated mainly on serine residues. Phosphorylation on Ser-298 promotes sumoylation on Lys-293.;HSF4 is phosphorylated by MAPK3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the HSF family. NA PE1 16 +NX_Q9ULV8 E3 ubiquitin-protein ligase CBL-C 474 52456 7.83 0 Nucleoplasm NA Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Functionally coupled with the E2 ubiquitin-protein ligases UB2D1, UB2D2 and UB2D3. Regulator of EGFR mediated signal transduction; upon EGF activation, ubiquitinates EGFR.;But not isoform 2, inhibits EGF stimulated MAPK1 activation. Promotes ubiquitination of SRC phosphorylated at 'Tyr-419'. In collaboration with CD2AP may act as regulatory checkpoint for Ret signaling by modulating the rate of RET degradation after ligand activation; CD2AP converts it from an inhibitor to a promoter of RET degradation; the function limits the potency of GDNF on neuronal survival. But not isoform 2, is phosphorylated on tyrosines by EGFR.;Autoubiquitinated when phosphorylated at Tyr-341, enhanced by SRC; suggesting proteasomal degradation.;Phosphorylated on multiple tyrosine residues by SRC. NA ErbB signaling pathway;Ubiquitin mediated proteolysis;Endocytosis;Jak-STAT signaling pathway;T cell receptor signaling pathway;Insulin signaling pathway;Bacterial invasion of epithelial cells;Pathways in cancer;Chronic myeloid leukemia PE1 19 +NX_Q9ULW0 Targeting protein for Xklp2 747 85653 9.29 0 Nucleoplasm;Spindle pole;Spindle;Nucleus;Cytoskeleton NA Spindle assembly factor required for normal assembly of mitotic spindles. Required for normal assembly of microtubules during apoptosis. Required for chromatin and/or kinetochore dependent microtubule nucleation. Mediates AURKA localization to spindle microtubules (PubMed:18663142, PubMed:19208764). Activates AURKA by promoting its autophosphorylation at 'Thr-288' and protects this residue against dephosphorylation (PubMed:18663142, PubMed:19208764). TPX2 is inactivated upon binding to importin-alpha (PubMed:26165940). At the onset of mitosis, GOLGA2 interacts with importin-alpha, liberating TPX2 from importin-alpha, allowing TPX2 to activates AURKA kinase and stimulates local microtubule nucleation (PubMed:26165940). TPX2 is phosphorylated by MAPK1;TPX2 is phosphorylated by AURKA (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the TPX2 family. AURKA Activation by TPX2;Regulation of TP53 Activity through Phosphorylation PE1 20 +NX_Q9ULW2 Frizzled-10 581 65336 8.83 7 Nucleoplasm;Cell membrane NA Receptor for Wnt proteins. Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable). Ubiquitinated by ZNRF3, leading to its degradation by the proteasome. Belongs to the G-protein coupled receptor Fz/Smo family. Wnt signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;Class B/2 (Secretin family receptors) PE1 12 +NX_Q9ULW3 Activator of basal transcription 1 272 31079 9.87 0 Cytoplasmic vesicle;Nucleus;Nucleolus NA Could be a novel TATA-binding protein (TBP) which can function as a basal transcription activator. Can act as a regulator of basal transcription for class II genes (By similarity). NA Belongs to the ESF2/ABP1 family. NA PE1 6 +NX_Q9ULW5 Ras-related protein Rab-26 256 27900 9.43 0 Cell membrane;Secretory vesicle membrane;Centrosome;Golgi apparatus membrane;Cytoplasmic vesicle NA The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Mediates transport of ADRA2A and ADRA2B from the Golgi to the cell membrane. Plays a role in the maturation of zymogenic granules and in pepsinogen secretion in the stomach. Plays a role in the secretion of amylase from acinar granules in the parotid gland. NA Belongs to the small GTPase superfamily. Rab family. RAB geranylgeranylation PE1 16 +NX_Q9ULW6 Nucleosome assembly protein 1-like 2 460 52542 4.39 0 Cytosol;Nucleus;Cell membrane NA Acidic protein which may be involved in interactions with other proteins or DNA. NA Belongs to the nucleosome assembly protein (NAP) family. NA PE1 X +NX_Q9ULW8 Protein-arginine deiminase type-3 664 74743 5.3 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle Uncombable hair syndrome 1 Catalyzes the deimination of arginine residues of proteins. NA Belongs to the protein arginine deiminase family. Chromatin modifying enzymes PE1 1 +NX_Q9ULX3 RNA-binding protein NOB1 412 46675 6.72 0 Cytosol;Focal adhesion;Nucleus NA May play a role in mRNA degradation. NA Belongs to the NOB1 family. Ribosome biogenesis in eukaryotes;Major pathway of rRNA processing in the nucleolus and cytosol PE1 16 +NX_Q9ULX5 RING finger protein 112 631 68298 8.88 2 Cytoplasm;Nucleus speckle;Perikaryon;Nuclear body;Membrane;Nucleoplasm;Endosome;Postsynaptic density;Neuron projection;Synaptic vesicle;Nucleus NA E3 ubiquitin-protein ligase that plays an important role in neuronal differentiation, including neurogenesis and gliogenesis, during brain development. During embryonic development initiates neuronal differentiation by inducing cell cycle arrest at the G0/G1 phase through up-regulation of cell-cycle regulatory proteins (PubMed:28684796). Plays a role not only in the fetal period during the development of the nervous system, but also in the adult brain, where it is involved in the maintenance of neural functions and protection of the nervous tissue cells from oxidative stress-induced damage. Exhibits GTPase and E3 ubiquitin-protein ligase activities. Regulates dendritic spine density and synaptic neurotransmission; its ability to hydrolyze GTP is involved in the maintenance of dendritic spine density (By similarity). Auto-ubiquitinated. Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily. Protein modification; protein ubiquitination. PE1 17 +NX_Q9ULX6 A-kinase anchor protein 8-like 646 71640 4.94 0 Cytoplasm;Nucleus speckle;Nucleus matrix;PML body;Nucleus NA (Microbial infection) In case of HIV-1 infection, involved in the DHX9-promoted annealing of host tRNA(Lys3) to viral genomic RNA as a primer in reverse transcription; in vitro negatively regulates DHX9 annealing activity.;(Microbial infection) Can synergize with DHX9 to activate the CTE-mediated gene expression of type D retroviruses.;(Microbial infection) In case of EBV infection, may target PRKACA to EBNA-LP-containing nuclear sites to modulate transcription from specific promoters.;Could play a role in constitutive transport element (CTE)-mediated gene expression by association with DHX9. Increases CTE-dependent nuclear unspliced mRNA export (PubMed:10748171, PubMed:11402034). Proposed to target PRKACA to the nucleus but does not seem to be implicated in the binding of regulatory subunit II of PKA (PubMed:10761695, PubMed:11884601). May be involved in nuclear envelope breakdown and chromatin condensation. May be involved in anchoring nuclear membranes to chromatin in interphase and in releasing membranes from chromating at mitosis (PubMed:11034899). May regulate the initiation phase of DNA replication when associated with TMPO isoform Beta (PubMed:12538639). Required for cell cycle G2/M transition and histone deacetylation during mitosis. In mitotic cells recruits HDAC3 to the vicinity of chromatin leading to deacetylation and subsequent phosphorylation at 'Ser-10' of histone H3; in this function seems to act redundantly with AKAP8 (PubMed:16980585). May be involved in regulation of pre-mRNA splicing (PubMed:17594903). Phosphorylated on serine or threonine residues possibly by PKA; probably modulating the interaction with TMPO isoform Beta. Belongs to the AKAP95 family. NA PE1 19 +NX_Q9ULX7 Carbonic anhydrase 14 337 37668 5.9 1 Membrane;Cell membrane NA Reversible hydration of carbon dioxide. NA Belongs to the alpha-carbonic anhydrase family. Nitrogen metabolism;Reversible hydration of carbon dioxide PE1 1 +NX_Q9ULX9 Transcription factor MafF 164 17760 9.85 0 Nucleoplasm;Mitochondrion;Nucleus NA Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves (PubMed:8932385). However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2L1/NRF1, and recruiting them to specific DNA-binding sites. Interacts with the upstream promoter region of the oxytocin receptor gene (PubMed:8932385, PubMed:16549056). May be a transcriptional enhancer in the up-regulation of the oxytocin receptor gene at parturition (PubMed:10527846). NA Belongs to the bZIP family. Maf subfamily. Factors involved in megakaryocyte development and platelet production PE1 22 +NX_Q9ULY5 C-type lectin domain family 4 member E 219 25073 5.12 1 Membrane;Cytosol NA A calcium-dependent lectin that acts as a pattern recognition receptor of the innate immune system. Recognizes damage-associated molecular patterns (DAMPs) of abnormal self and pathogen-associated molecular patterns (PAMPs) of bacteria and fungi (PubMed:18509109, PubMed:23602766). The PAMPs notably include mycobacterial trehalose 6,6'-dimycolate (TDM), a cell wall glycolipid with potent adjuvant immunomodulatory functions (PubMed:23602766, PubMed:24101491). Interacts with signaling adapter Fc receptor gamma chain/FCER1G to form a functional complex in myeloid cells. Binding of mycobacterial trehalose 6,6'-dimycolate (TDM) to this receptor complex leads to phosphorylation of the immunoreceptor tyrosine-based activation motif (ITAM) of FCER1G, triggering activation of SYK, CARD9 and NF-kappa-B, consequently driving maturation of antigen-presenting cells and shaping antigen-specific priming of T-cells toward effector T-helper 1 and T-helper 17 cell subtypes. Specifically recognizes alpha-mannose residues on pathogenic fungi of the genus Malassezia and mediates macrophage activation. Through recognition of DAMPs released upon nonhomeostatic cell death, enables immune sensing of damaged self and promotes inflammatory cell infiltration into the damaged tissue (By similarity). NA NA Tuberculosis;Dectin-2 family PE1 12 +NX_Q9ULZ0 TP53-target gene 3 protein 124 12828 8.18 0 Cytoplasm;Nucleus NA May play a significant role in p53/TP53-mediating signaling pathway. NA NA NA PE2 16 +NX_Q9ULZ1 Apelin 77 8569 11.83 0 Secreted;Extracellular space NA Endogenous ligand for the apelin receptor (APLNR) (PubMed:10525157). Drives internalization of the apelin receptor (By similarity). Apelin-36 dissociates more hardly than (pyroglu)apelin-13 from APLNR (By similarity). Hormone involved in the regulation of cardiac precursor cell movements during gastrulation and heart morphogenesis (By similarity). Has an inhibitory effect on cytokine production in response to T-cell receptor/CD3 cross-linking; the oral intake of apelin in the colostrum and the milk might therefore modulate immune responses in neonates (By similarity). Plays a role in early coronary blood vessels formation (By similarity). Mediates myocardial contractility in an ERK1/2-dependent manner (By similarity). May also have a role in the central control of body fluid homeostasis by influencing vasopressin release and drinking behavior (By similarity).;(Microbial infection) Endogenous ligand for the apelin receptor (APLNR), an alternative coreceptor with CD4 for HIV-1 infection (PubMed:11090199). Inhibits HIV-1 entry in cells coexpressing CD4 and APLNR (PubMed:11090199). Apelin-36 has a greater inhibitory activity on HIV infection than other synthetic apelin derivatives (PubMed:11090199). Several active peptides may be produced by proteolytic processing of the peptide precursor. Belongs to the apelin family. G alpha (i) signalling events;Peptide ligand-binding receptors PE1 X +NX_Q9ULZ2 Signal-transducing adaptor protein 1 295 34291 7.61 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA In BCR signaling, appears to function as a docking protein acting downstream of TEC and participates in a positive feedback loop by increasing the activity of TEC. Phosphorylated on tyrosine by TEC. Phosphorylated on tyrosine by KIT (By similarity).;STAP1 is phosphorylated by TEC (Phosphotyrosine:PTM-0255) NA NA PE1 4 +NX_Q9ULZ3 Apoptosis-associated speck-like protein containing a CARD 195 21627 5.95 0 Cytoplasm;Mitochondrion;Nucleolus;Endoplasmic reticulum;Nucleoplasm;Golgi apparatus membrane;Cytosol;Nucleus NA May have a regulating effect on the function as inflammasome adapter.;Functions as key mediator in apoptosis and inflammation. Promotes caspase-mediated apoptosis involving predominantly caspase-8 and also caspase-9 in a probable cell type-specific manner. Involved in activation of the mitochondrial apoptotic pathway, promotes caspase-8-dependent proteolytic maturation of BID independently of FADD in certain cell types and also mediates mitochondrial translocation of BAX and activates BAX-dependent apoptosis coupled to activation of caspase-9, -2 and -3. Involved in macrophage pyroptosis, a caspase-1-dependent inflammatory form of cell death and is the major constituent of the ASC pyroptosome which forms upon potassium depletion and rapidly recruits and activates caspase-1. In innate immune response believed to act as an integral adapter in the assembly of the inflammasome which activates caspase-1 leading to processing and secretion of proinflammatory cytokines. The function as activating adapter in different types of inflammasomes is mediated by the pyrin and CARD domains and their homotypic interactions. Required for recruitment of caspase-1 to inflammasomes containing certain pattern recognition receptors, such as NLRP2, NLRP3, AIM2 and probably IFI16. In the NLRP1 and NLRC4 inflammasomes seems not be required but facilitates the processing of procaspase-1. In cooperation with NOD2 involved in an inflammasome activated by bacterial muramyl dipeptide leading to caspase-1 activation. May be involved in DDX58-triggered proinflammatory responses and inflammasome activation.;Seems to inhibit inflammasome-mediated maturation of interleukin-1 beta. In collaboration with AIM2 which detects cytosolic double-stranded DNA may also be involved in a caspase-1-independent cell death that involves caspase-8. In adaptive immunity may be involved in maturation of dendritic cells to stimulate T-cell immunity and in cytoskeletal rearrangements coupled to chemotaxis and antigen uptake may be involved in post-transcriptional regulation of the guanine nucleotide exchange factor DOCK2; the latter function is proposed to involve the nuclear form. Also involved in transcriptional activation of cytokines and chemokines independent of the inflammasome; this function may involve AP-1, NF-kappa-B, MAPK and caspase-8 signaling pathways. For regulation of NF-kappa-B activating and inhibiting functions have been reported. Modulates NF-kappa-B induction at the level of the IKK complex by inhibiting kinase activity of CHUK and IKBK. Proposed to compete with RIPK2 for association with CASP1 thereby down-regulating CASP1-mediated RIPK2-dependent NF-kappa-B activation and activating interleukin-1 beta processing. Modulates host resistance to DNA virus infection, probably by inducing the cleavage of and inactivating CGAS in presence of cytoplasmic double-stranded DNA (PubMed:28314590). Phosphorylated. NA NOD-like receptor signaling pathway;Cytosolic DNA-sensing pathway;Salmonella infection;Pertussis;Legionellosis;Influenza A;The NLRP3 inflammasome;CLEC7A/inflammasome pathway;The AIM2 inflammasome;Neutrophil degranulation PE1 16 +NX_Q9ULZ9 Matrix metalloproteinase-17 603 66653 6.08 0 Extracellular matrix;Cell membrane NA Endopeptidase that degrades various components of the extracellular matrix, such as fibrin. May be involved in the activation of membrane-bound precursors of growth factors or inflammatory mediators, such as tumor necrosis factor-alpha. May also be involved in tumoral process. Cleaves pro-TNF-alpha at the '74-Ala-|-Gln-75' site. Not obvious if able to proteolytically activate progelatinase A. Does not hydrolyze collagen types I, II, III, IV and V, gelatin, fibronectin, laminin, decorin nor alpha1-antitrypsin. The precursor is cleaved by a furin endopeptidase. Belongs to the peptidase M10A family. Activation of Matrix Metalloproteinases PE1 12 +NX_Q9UM00 Calcium load-activated calcium channel 239 27079 10.27 2 Endoplasmic reticulum;Endoplasmic reticulum membrane;Golgi apparatus membrane Glaucoma, primary open angle;Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome Calcium-selective channel required to prevent calcium stores from overfilling, thereby playing a key role in calcium homeostasis (PubMed:27212239). In response to endoplasmic reticulum overloading, assembles into a homotetramer, forming a functional calcium-selective channel, regulating the calcium content in endoplasmic reticulum store (PubMed:27212239). NA Belongs to the TMCO1 family. NA PE1 1 +NX_Q9UM01 Y+L amino acid transporter 1 511 55991 5.29 12 Basolateral cell membrane Lysinuric protein intolerance Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes. NA Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. Protein digestion and absorption;Amino acid transport across the plasma membrane;Basigin interactions;Defective SLC7A7 causes lysinuric protein intolerance (LPI) PE1 14 +NX_Q9UM07 Protein-arginine deiminase type-4 663 74079 6.15 0 Cytoplasm;Cytoplasmic granule;Nucleus Rheumatoid arthritis Catalyzes the citrullination/deimination of arginine residues of proteins such as histones, thereby playing a key role in histone code and regulation of stem cell maintenance. Citrullinates histone H1 at 'Arg-54' (to form H1R54ci), histone H3 at 'Arg-2', 'Arg-8', 'Arg-17' and/or 'Arg-26' (to form H3R2ci, H3R8ci, H3R17ci, H3R26ci, respectively) and histone H4 at 'Arg-3' (to form H4R3ci). Acts as a key regulator of stem cell maintenance by mediating citrullination of histone H1: citrullination of 'Arg-54' of histone H1 (H1R54ci) results in H1 displacement from chromatin and global chromatin decondensation, thereby promoting pluripotency and stem cell maintenance. Promotes profound chromatin decondensation during the innate immune response to infection in neutrophils by mediating formation of H1R54ci. Citrullination of histone H3 prevents their methylation by CARM1 and HRMT1L2/PRMT1 and represses transcription. Citrullinates EP300/P300 at 'Arg-2142', which favors its interaction with NCOA2/GRIP1. Autocitrullination at Arg-372 and Arg-374 inactivates the enzyme. Belongs to the protein arginine deiminase family. Chromatin modifying enzymes PE1 1 +NX_Q9UM11 Fizzy-related protein homolog 496 55179 9.41 0 Cytoplasm;Nucleoplasm;Nucleus membrane;Nucleus NA Substrate-specific adapter for the anaphase promoting complex/cyclosome (APC/C) E3 ubiquitin-protein ligase complex. Associates with the APC/C in late mitosis, in replacement of CDC20, and activates the APC/C during anaphase and telophase. The APC/C remains active in degrading substrates to ensure that positive regulators of the cell cycle do not accumulate prematurely. At the G1/S transition FZR1 is phosphorylated, leading to its dissociation from the APC/C. Following DNA damage, it is required for the G2 DNA damage checkpoint: its dephosphorylation and reassociation with the APC/C leads to the ubiquitination of PLK1, preventing entry into mitosis. Acts as an adapter for APC/C to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation. Through the regulation of RBBP8/CtIP protein turnover, may play a role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:25349192). Acetylated. Deacetylated by SIRT2 at Lys-69 and Lys-159; deacetylation enhances the interaction of FZR1 with CDC27, leading to activation of anaphase promoting complex/cyclosome (APC/C).;Phosphorylated during mitosis, probably by maturation promoting factor (MPF), leading to its dissociation of the APC/C. Following DNA damage, it is dephosphorylated by CDC14B in G2 phase, leading to its reassociation with the APC/C, and allowing an efficient G2 DNA damage checkpoint. Phosphorylated by MAK.;FZR1 is phosphorylated by PIM1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the WD repeat CDC20/Fizzy family. Protein modification; protein ubiquitination.;Cell cycle;Ubiquitin mediated proteolysis;Progesterone-mediated oocyte maturation;SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;CDK-mediated phosphorylation and removal of Cdc6;Antigen processing: Ubiquitination & Proteasome degradation;Senescence-Associated Secretory Phenotype (SASP);Autodegradation of Cdh1 by Cdh1:APC/C;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;Phosphorylation of Emi1;Cyclin A:Cdk2-associated events at S phase entry PE1 19 +NX_Q9UM13 Anaphase-promoting complex subunit 10 185 21252 9.17 0 Golgi apparatus;Nucleoplasm NA Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. NA Belongs to the APC10 family. Protein modification; protein ubiquitination.;Cell cycle;Oocyte meiosis;Ubiquitin mediated proteolysis;Progesterone-mediated oocyte maturation;HTLV-I infection;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Separation of Sister Chromatids;CDK-mediated phosphorylation and removal of Cdc6;Antigen processing: Ubiquitination & Proteasome degradation;Senescence-Associated Secretory Phenotype (SASP);Autodegradation of Cdh1 by Cdh1:APC/C;Inactivation of APC/C via direct inhibition of the APC/C complex;APC/C:Cdc20 mediated degradation of Cyclin B;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;Regulation of APC/C activators between G1/S and early anaphase;APC/C:Cdc20 mediated degradation of mitotic proteins;Phosphorylation of the APC/C;APC-Cdc20 mediated degradation of Nek2A PE1 4 +NX_Q9UM19 Hippocalcin-like protein 4 191 22202 4.76 0 Cytoplasm;Nucleus NA May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. NA Belongs to the recoverin family. NA PE1 1 +NX_Q9UM21 Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A 535 61544 6.94 1 Golgi apparatus;Secreted;Golgi apparatus membrane NA Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains. Involved in glucose transport by mediating SLC2A2/GLUT2 glycosylation, thereby controlling cell-surface expression of SLC2A2 in pancreatic beta cells. NA Belongs to the glycosyltransferase 54 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;N-Glycan antennae elongation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Post-translational protein phosphorylation PE1 2 +NX_Q9UM22 Mammalian ependymin-related protein 1 224 25437 6.33 0 Secreted;Lysosome lumen NA Binds anionic lipids and gangliosides at acidic pH. N-glycosylated; the glycan contains mannose-6-phosphate moieties. Belongs to the ependymin family. NA PE1 7 +NX_Q9UM44 HERV-H LTR-associating protein 2 414 46850 5.77 1 Membrane NA Through interaction with TMIGD2, costimulates T-cells in the context of TCR-mediated activation. Enhances T-cell proliferation and cytokine production via an AKT-dependent signaling cascade. NA NA NA PE1 3 +NX_Q9UM47 Neurogenic locus notch homolog protein 3 2321 243631 5.18 1 Cell membrane;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton Myofibromatosis, infantile 2;Lateral meningocele syndrome;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination (PubMed:15350543). Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Hydroxylated by HIF1AN.;Synthesized in the endoplasmic reticulum as an inactive form which is proteolytically cleaved by a furin-like convertase in the trans-Golgi network before it reaches the plasma membrane to yield an active, ligand-accessible form. Cleavage results in a C-terminal fragment N(TM) and a N-terminal fragment N(EC). Following ligand binding, it is cleaved by TNF-alpha converting enzyme (TACE) to yield a membrane-associated intermediate fragment called notch extracellular truncation (NEXT). This fragment is then cleaved by presenilin dependent gamma-secretase to release a notch-derived peptide containing the intracellular domain (NICD) from the membrane.;Phosphorylated. Belongs to the NOTCH family. Dorso-ventral axis formation;Notch signaling pathway;Pre-NOTCH Processing in the Endoplasmic Reticulum;Pre-NOTCH Transcription and Translation;Pre-NOTCH Processing in Golgi;Notch-HLH transcription pathway;Defective LFNG causes SCDO3;NOTCH3 Activation and Transmission of Signal to the Nucleus;NOTCH3 Intracellular Domain Regulates Transcription;Noncanonical activation of NOTCH3 PE1 19 +NX_Q9UM54 Unconventional myosin-VI 1294 149691 8.74 0 Clathrin-coated vesicle;Golgi apparatus;trans-Golgi network membrane;Clathrin-coated pit;Nucleoplasm;Filopodium;Clathrin-coated vesicle membrane;Ruffle membrane;Cytosol;Microvillus;Perinuclear region;Nucleus Deafness, autosomal dominant, 22;Deafness, autosomal recessive, 37;Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy Myosins are actin-based motor molecules with ATPase activity (By similarity). Unconventional myosins serve in intracellular movements (By similarity). Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments (PubMed:10519557). Has slow rate of actin-activated ADP release due to weak ATP binding (By similarity). Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration (By similarity). Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway (PubMed:16507995). Appears to be involved in a very early step of clathrin-mediated endocytosis in polarized epithelial cells (PubMed:11447109). May act as a regulator of F-actin dynamics (By similarity). As part of the DISP complex, may regulate the association of septins with actin and thereby regulate the actin cytoskeleton (PubMed:29467281). May play a role in transporting DAB2 from the plasma membrane to specific cellular targets (By similarity). May play a role in the extension and network organization of neurites (By similarity). Required for structural integrity of inner ear hair cells (By similarity). Modulates RNA polymerase II-dependent transcription (PubMed:16949370). Phosphorylation in the motor domain, induced by EGF, results in translocation of MYO6 from the cell surface to membrane ruffles and affects F-actin dynamics. Phosphorylated in vitro by p21-activated kinase (PAK). Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Trafficking of AMPA receptors;Gap junction degradation PE1 6 +NX_Q9UM63 Zinc finger protein PLAGL1 463 50819 8.85 0 Golgi apparatus;Nucleus;Cytoplasmic vesicle Diabetes mellitus, transient neonatal, 1 Acts as a transcriptional activator (PubMed:9722527). Involved in the transcriptional regulation of type 1 receptor for pituitary adenylate cyclase-activating polypeptide. NA Belongs to the krueppel C2H2-type zinc-finger protein family. TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain PE1 6 +NX_Q9UM73 ALK tyrosine kinase receptor 1620 176442 6.67 1 Cell membrane Neuroblastoma 3 Neuronal receptor tyrosine kinase that is essentially and transiently expressed in specific regions of the central and peripheral nervous systems and plays an important role in the genesis and differentiation of the nervous system. Transduces signals from ligands at the cell surface, through specific activation of the mitogen-activated protein kinase (MAPK) pathway. Phosphorylates almost exclusively at the first tyrosine of the Y-x-x-x-Y-Y motif. Following activation by ligand, ALK induces tyrosine phosphorylation of CBL, FRS2, IRS1 and SHC1, as well as of the MAP kinases MAPK1/ERK2 and MAPK3/ERK1. Acts as a receptor for ligands pleiotrophin (PTN), a secreted growth factor, and midkine (MDK), a PTN-related factor, thus participating in PTN and MDK signal transduction. PTN-binding induces MAPK pathway activation, which is important for the anti-apoptotic signaling of PTN and regulation of cell proliferation. MDK-binding induces phosphorylation of the ALK target insulin receptor substrate (IRS1), activates mitogen-activated protein kinases (MAPKs) and PI3-kinase, resulting also in cell proliferation induction. Drives NF-kappa-B activation, probably through IRS1 and the activation of the AKT serine/threonine kinase. Recruitment of IRS1 to activated ALK and the activation of NF-kappa-B are essential for the autocrine growth and survival signaling of MDK. N-glycosylated.;Phosphorylated at tyrosine residues by autocatalysis, which activates kinase activity. In cells not stimulated by a ligand, receptor protein tyrosine phosphatase beta and zeta complex (PTPRB/PTPRZ1) dephosphorylates ALK at the sites in ALK that are undergoing autophosphorylation through autoactivation. Phosphorylation at Tyr-1507 is critical for SHC1 association. Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. NA PE1 2 +NX_Q9UM82 Spermatogenesis-associated protein 2 520 58427 9 0 Nucleoplasm;Nucleus;Cytoplasm;Nucleolus NA Bridging factor that mediates the recruitment of CYLD to the LUBAC complex, thereby regulating TNF-alpha-induced necroptosis (PubMed:27307491, PubMed:27458237, PubMed:27545878, PubMed:27591049). Acts as a direct binding intermediate that bridges RNF31/HOIP, the catalytic subunit of the LUBAC complex, and the deubiquitinase (CYLD), thereby recruiting CYLD to the TNF-R1 signaling complex (TNF-RSC) (PubMed:27458237, PubMed:27545878, PubMed:27591049). Required to activate the 'Met-1'- (linear) and 'Lys-63'-linked deubiquitinase activities of CYLD (PubMed:27458237, PubMed:27591049). Controls the kinase activity of RIPK1 and TNF-alpha-induced necroptosis by promoting 'Met-1'-linked deubiquitination of RIPK1 by CYLD (By similarity). NA Belongs to the SPATA2 family. NA PE1 20 +NX_Q9UMD9 Collagen alpha-1(XVII) chain 1497 150419 8.89 1 Golgi apparatus;Cell membrane;Hemidesmosome;Membrane;Basement membrane Epithelial recurrent erosion dystrophy;Generalized atrophic benign epidermolysis bullosa May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.;The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies. The intracellular/endo domain is disulfide-linked.;The ectodomain is shedded from the surface of keratinocytes resulting in a 120-kDa soluble form, also named as 120 kDa linear IgA disease antigen. The shedding is mediated by membrane-bound metalloproteases. This cleavage is inhibited by phosphorylation at Ser-544.;Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. NA Protein digestion and absorption;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Collagen degradation;Collagen biosynthesis and modifying enzymes;Assembly of collagen fibrils and other multimeric structures;Type I hemidesmosome assembly;Collagen chain trimerization PE1 10 +NX_Q9UMF0 Intercellular adhesion molecule 5 924 97116 5.71 1 Membrane NA ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). Glycosylation at Asn-54 is critical for functional folding. Belongs to the immunoglobulin superfamily. ICAM family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Integrin cell surface interactions PE1 19 +NX_Q9UMN6 Histone-lysine N-methyltransferase 2B 2715 293515 8.59 0 Nucleoplasm;Cytosol;Nucleus Dystonia 28, childhood-onset Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily. Lysine degradation;PKMTs methylate histone lysines;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 19 +NX_Q9UMQ3 Homeobox protein BarH-like 2 279 31188 8.65 0 Nucleoplasm;Cytosol;Nucleus NA Transcription factor. Binds optimally to the DNA consensus sequence 5'-YYTAATGRTTTTY-3'. May control the expression of neural adhesion molecules such as L1 or Ng-CAM during embryonic development of both the central and peripherical nervous system. May be involved in controlling adhesive processes in keratinizing epithelia (By similarity). NA Belongs to the BAR homeobox family. NA PE1 11 +NX_Q9UMQ6 Calpain-11 739 84423 5.39 0 Acrosome NA Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. NA Belongs to the peptidase C2 family. Degradation of the extracellular matrix PE1 6 +NX_Q9UMR2 ATP-dependent RNA helicase DDX19B 479 53927 5.96 0 Cytoplasm;Nucleus envelope;Nucleus membrane;Nuclear pore complex NA ATP-dependent RNA helicase involved in mRNA export from the nucleus. Rather than unwinding RNA duplexes, DDX19B functions as a remodeler of ribonucleoprotein particles, whereby proteins bound to nuclear mRNA are dissociated and replaced by cytoplasmic mRNA binding proteins. NA Belongs to the DEAD box helicase family. DDX19/DBP5 subfamily. NA PE1 16 +NX_Q9UMR3 T-box transcription factor TBX20 447 49232 7.29 0 Nucleus Atrial septal defect 4 Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart. NA NA NA PE1 7 +NX_Q9UMR5 Lysosomal thioesterase PPT2 302 34225 5.87 0 Endoplasmic reticulum;Lysosome NA Removes thioester-linked fatty acyl groups from various substrates including S-palmitoyl-CoA. Has the highest S-thioesterase activity for the acyl groups palmitic and myristic acid followed by other short- and long-chain acyl substrates. However, because of structural constraints, is unable to remove palmitate from peptides or proteins. NA Belongs to the palmitoyl-protein thioesterase family. Fatty acid elongation;Metabolic pathways;Lysosome;Fatty acyl-CoA biosynthesis PE1 6 +NX_Q9UMR7 C-type lectin domain family 4 member A 237 27512 6.32 1 Cell membrane NA C-type lectin receptor that binds carbohydrates mannose and fucose but also weakly interacts with N-acetylglucosamine (GlcNAc) in a Ca(2+)-dependent manner (PubMed:27015765). Involved in regulating immune reactivity (PubMed:18258799, PubMed:10438934). Once triggered by antigen, it is internalized by clathrin-dependent endocytosis and delivers its antigenic cargo into the antigen presentation pathway resulting in cross-priming of CD8(+) T cells. This cross-presentation and cross-priming are enhanced by TLR7 and TLR8 agonists with increased expansion of the CD8(+) T cells, high production of IFNG and TNF with reduced levels of IL4, IL5 and IL13 (PubMed:18258799, PubMed:20530286). In plasmacytoid dendritic cells, inhibits TLR9-mediated IFNA and TNF production (PubMed:18258799). May be involved via its ITIM motif (immunoreceptor tyrosine-based inhibitory motifs) in the inhibition of B-cell-receptor-mediated calcium mobilization and protein tyrosine phosphorylation (PubMed:10438934).;(Microbial infection) Involved in the interaction between HIV-1 virus and dendritic cells. Enhances HIV-1 binding/entry and virus infection. Requires ITIM motif-associated signal transduction pathway involving phosphatases PTPN6 and PTPN11, SYK, Src kinases and MAP kinases. NA NA Dectin-2 family PE1 12 +NX_Q9UMS0 NFU1 iron-sulfur cluster scaffold homolog, mitochondrial 254 28463 4.97 0 Nucleoplasm;Cytosol;Mitochondrion Multiple mitochondrial dysfunctions syndrome 1 Iron-sulfur cluster scaffold protein which can assemble [4Fe-4S] clusters and deliver them to target proteins. NA Belongs to the NifU family. NA PE1 2 +NX_Q9UMS4 Pre-mRNA-processing factor 19 504 55181 6.14 0 Cytoplasm;Nucleus speckle;Lipid droplet;Nucleoplasm;Spindle;Nucleus NA Ubiquitin-protein ligase which is a core component of several complexes mainly involved pre-mRNA splicing and DNA repair. Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:28076346, PubMed:29360106, PubMed:29301961, PubMed:30705154). Core component of the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome and participates in its assembly, its remodeling and is required for its activity. During assembly of the spliceosome, mediates 'Lys-63'-linked polyubiquitination of the U4 spliceosomal protein PRPF3. Ubiquitination of PRPF3 allows its recognition by the U5 component PRPF8 and stabilizes the U4/U5/U6 tri-snRNP spliceosomal complex (PubMed:20595234). Recruited to RNA polymerase II C-terminal domain (CTD) and the pre-mRNA, it may also couple the transcriptional and spliceosomal machineries (PubMed:21536736). The XAB2 complex, which contains PRPF19, is also involved in pre-mRNA splicing, transcription and transcription-coupled repair (PubMed:17981804). Beside its role in pre-mRNA splicing PRPF19, as part of the PRP19-CDC5L complex, plays a role in the DNA damage response/DDR. It is recruited to the sites of DNA damage by the RPA complex where PRPF19 directly ubiquitinates RPA1 and RPA2. 'Lys-63'-linked polyubiquitination of the RPA complex allows the recruitment of the ATR-ATRIP complex and the activation of ATR, a master regulator of the DNA damage response (PubMed:24332808). May also play a role in DNA double-strand break (DSB) repair by recruiting the repair factor SETMAR to altered DNA (PubMed:18263876). As part of the PSO4 complex may also be involved in the DNA interstrand cross-links/ICLs repair process (PubMed:16223718). In addition, may also mediate 'Lys-48'-linked polyubiquitination of substrates and play a role in proteasomal degradation (PubMed:11435423). May play a role in the biogenesis of lipid droplets (By similarity). May play a role in neural differentiation possibly through its function as part of the spliceosome (By similarity). NA Belongs to the WD repeat PRP19 family. Protein modification; protein ubiquitination.;Spliceosome;Ubiquitin mediated proteolysis;mRNA Splicing - Major Pathway;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER PE1 11 +NX_Q9UMS5 Putative homeodomain transcription factor 1 762 87252 9.64 0 Nucleolus;Nucleus NA May play a role in transcription regulation. NA NA NA PE1 1 +NX_Q9UMS6 Synaptopodin-2 1093 117514 8.75 0 Cytoplasm;Focal adhesion;Cytoplasmic vesicle;Z line;Nucleus;Cytoskeleton NA Involved in regulation of cell migration. Can induce long, well-organized actin bundles frequently orientated in parallel along the long axis of the cell showing characteristics of contractile ventral stress fibers.;Involved in regulation of cell migration. Can induce formation of thick, irregular actin bundles in the cell body.;Involved in regulation of cell migration. Can induce an amorphous actin meshwork throughout the cell body containing a mixture of long and short, randomly organized thick and thin actin bundles.;Can induce long, well-organized actin bundles frequently orientated in parallel along the long axis of the cell showing characteristics of contractile ventral stress fibers.;Involved in regulation of cell migration in part dependent on the Rho-ROCK cascade; can promote formation of nascent focal adhesions, actin bundles at the leading cell edge and lamellipodia (PubMed:22915763, PubMed:25883213). Can induce formation of thick, irregular actin bundles in the cell body; the induced actin network is associated with enhanced cell migration in vitro.;Has an actin-binding and actin-bundling activity. Can induce the formation of F-actin networks in an isoform-specific manner (PubMed:24005909, PubMed:23225103). At the sarcomeric Z lines is proposed to act as adapter protein that links nascent myofibers to the sarcolemma via ZYX and may play a role in early assembly and stabilization of the Z lines. Involved in autophagosome formation. May play a role in chaperone-assisted selective autophagy (CASA) involved in Z lines maintenance in striated muscle under mechanical tension; may link the client-processing CASA chaperone machinery to a membrane-tethering and fusion complex providing autophagosome membranes (By similarity). Involved in regulation of cell migration (PubMed:22915763, PubMed:25883213). May be a tumor suppressor (PubMed:16885336). Phosphorylated by PKA, and by CaMK2 at multiple sites. Dephosphorylated by calcineurin; abrogating interaction with YWHAB and impairing nuclear import (By similarity). Phosphorylated by ILK. Belongs to the synaptopodin family. NA PE1 4 +NX_Q9UMW8 Ubl carboxyl-terminal hydrolase 18 372 43011 8.05 0 Cytoplasm;Cytosol;Nucleus Pseudo-TORCH syndrome 2 Involved in the regulation of inflammatory response to interferon type 1 (PubMed:27325888). Can efficiently cleave only ISG15 fusions including native ISG15 conjugates linked via isopeptide bonds. Necessary to maintain a critical cellular balance of ISG15-conjugated proteins in both healthy and stressed organisms.;Has enzymatic activity similar to isoform 1 and interferes with type I interferon signaling. Major deISGylation enzyme for nuclear proteins (PubMed:22170061). NA Belongs to the peptidase C19 family. ISG15 antiviral mechanism;Regulation of IFNA signaling;Ub-specific processing proteases PE1 22 +NX_Q9UMX0 Ubiquilin-1 589 62519 5.02 0 Cytoplasm;Cell membrane;Nucleoplasm;Endoplasmic reticulum;Autophagosome;Cytosol;Nucleus NA Play a key role in the regulation of the levels of PSEN1 by targeting its accumulation to aggresomes which may then be removed from cells by autophagocytosis (PubMed:21143716). Promotes the ubiquitination and lysosomal degradation of ORAI1, consequently downregulating the ORAI1-mediated Ca2+ mobilization (PubMed:23307288). Suppresses the maturation and proteasomal degradation of amyloid beta A4 protein (A4) by stimulating the lysine 63 (K63)-linked polyubiquitination. Delays the maturation of A4 by sequestering it in the Golgi apparatus and preventing its transport to the cell surface for subsequent processing (By similarity).;Play a role in unfolded protein response (UPR) by attenuating the induction of UPR-inducible genes, DDTI3/CHOP, HSPA5 and PDIA2 during ER stress (PubMed:18953672). Involved in the regulation of macroautophagy and autophagosome formation; required for maturation of autophagy-related protein LC3 from the cytosolic form LC3-I to the membrane-bound form LC3-II and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:19148225, PubMed:20529957, PubMed:23459205). Negatively regulates the TICAM1/TRIF-dependent toll-like receptor signaling pathway by decreasing the abundance of TICAM1 via the autophagic pathway (PubMed:21695056).;Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin-proteasome system (UPS), autophagy and endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (PubMed:15147878). Plays a role in the ERAD pathway via its interaction with ER-localized proteins UBXN4, VCP and HERPUD1 and may form a link between the polyubiquitinated ERAD substrates and the proteasome (PubMed:19822669, PubMed:18307982). Degraded during both macroautophagy and during chaperone-mediated autophagy (CMA).;Ubiquitinated.;Phosphorylated. NA Protein processing in endoplasmic reticulum;Cargo recognition for clathrin-mediated endocytosis PE1 9 +NX_Q9UMX1 Suppressor of fused homolog 484 53947 5.16 0 Nucleoplasm;Cytoplasm;Nucleus Medulloblastoma;Basal cell nevus syndrome;Joubert syndrome 32 Negative regulator in the hedgehog/smoothened signaling pathway (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:12068298, PubMed:12975309, PubMed:27234298, PubMed:15367681, PubMed:22365972, PubMed:24217340, PubMed:24311597, PubMed:28965847). Down-regulates GLI1-mediated transactivation of target genes (PubMed:15367681, PubMed:24217340, PubMed:24311597). Down-regulates GLI2-mediated transactivation of target genes (PubMed:24311597, PubMed:24217340). Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:24217340). Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:24217340). Negative regulator of beta-catenin signaling (By similarity). Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full-length form of GLI3 (GLI3FL) (PubMed:24311597, PubMed:28965847). GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state (PubMed:24311597, PubMed:28965847). Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R (PubMed:24311597, PubMed:28965847). When Hh signaling is initiated, SUFU dissociates from GLI3FL and the latter translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A) (PubMed:24311597, PubMed:28965847). Required for normal embryonic development (By similarity). Required for the proper formation of hair follicles and the control of epidermal differentiation (By similarity). Phosphorylation at Ser-342, Ser-346, Ser-352 and Thr-353 prevents ubiquitination by the SCF(FBXL17) complex.;Polyubiquitinated at Lys-257 by the SCF(FBXL17) complex, leading to its subsequent degradation and allowing the release of GLI1 for proper hedgehog/smoothened signal transduction (PubMed:27234298). Ubiquitination is impaired by phosphorylation at Ser-342, Ser-346, Ser-352 and Thr-353 (PubMed:27234298). Belongs to the SUFU family. Hedgehog signaling pathway;Pathways in cancer;Basal cell carcinoma;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Hedgehog 'off' state PE1 10 +NX_Q9UMX2 Ornithine decarboxylase antizyme 3 235 27413 6.38 0 Cytoplasm;Nucleoplasm;Nucleus NA Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimers. Does not target the ODC monomers for degradation, which allows a protein synthesis-independent restoration of ODC activity (PubMed:17900240). Stabilizes AZIN2 by interfering with its ubiquitination. Involved in the translocation of AZNI2 from ER-Golgi intermediate compartment (ERGIC) to the cytosol. Probably plays a key role in spermatogenesis by regulating the intracellular concentration of polyamines in haploid germ cells (By similarity). NA Belongs to the ODC antizyme family. Regulation of ornithine decarboxylase (ODC) PE1 1 +NX_Q9UMX3 Bcl-2-related ovarian killer protein 212 23280 9.33 1 Mitochondrion outer membrane;Cytoplasm;Nucleus outer membrane;Endoplasmic reticulum membrane;Mitochondrion;cis-Golgi network membrane;trans-Golgi network membrane;Membrane;Endoplasmic reticulum;Recycling endosome membrane;Early endosome membrane;Nucleus;Mitochondrion inner membrane;Mitochondrion membrane NA Pro-apoptotic molecule exerting its function through the mitochondrial pathway.;Apoptosis regulator that functions through different apoptotic signaling pathways (PubMed:27076518, PubMed:15102863, PubMed:20673843). Plays a roles as pro-apoptotic protein that positively regulates intrinsic apoptotic process in a BAX- and BAK1-dependent manner or in a BAX- and BAK1-independent manner (PubMed:27076518, PubMed:15102863). In response to endoplasmic reticulum stress promotes mitochondrial apoptosis through downstream BAX/BAK1 activation and positive regulation of PERK-mediated unfolded protein response (By similarity). Activates apoptosis independently of heterodimerization with survival-promoting BCL2 and BCL2L1 through induction of mitochondrial outer membrane permeabilization, in a BAX- and BAK1-independent manner, in response to inhibition of ERAD-proteasome degradation system, resulting in cytochrome c release (PubMed:27076518). In response to DNA damage, mediates intrinsic apoptotic process in a TP53-dependent manner (PubMed:15102863). Plays a role in granulosa cell apoptosis by CASP3 activation (PubMed:20673843). Plays a roles as anti-apoptotic protein during neuronal apoptotic process, by negatively regulating poly ADP-ribose polymerase-dependent cell death through regulation of neuronal calcium homeostasis and mitochondrial bioenergetics in response to NMDA excitation (By similarity). In addition to its role in apoptosis, may regulate trophoblast cell proliferation during the early stages of placental development, by acting on G1/S transition through regulation of CCNE1 expression (PubMed:19942931). May also play a role as an inducer of autophagy by disrupting interaction between MCL1 and BECN1 (PubMed:24113155). Ubiquitinated by AMFR/gp78 E3 ubiquitin ligase complex; mediates degradation by ubiquitin-proteasome pathway in a VCP/p97-dependent manner; prevents from pro-apoptotic activity; promotes degradation of newly synthesized proteins that are not ITPR1 associated. Belongs to the Bcl-2 family. NA PE1 2 +NX_Q9UMX5 Neudesin 172 18856 5.51 0 Nucleoplasm;Extracellular space NA Acts as a neurotrophic factor in postnatal mature neurons enhancing neuronal survival. Promotes cell proliferation and neurogenesis in undifferentiated neural pro-genitor cells at the embryonic stage and inhibits differentiation of astrocyte. Its neurotrophic activity is exerted via MAPK1/ERK2, MAPK3/ERK1 and AKT1/AKT pathways. Neurotrophic activity is enhanced by binding to heme. Acts also as an anorexigenic neurotrophic factor that contributes to energy balance (By similarity). Plays a role in the human tumorigenesis (PubMed:22748190). NA Belongs to the cytochrome b5 family. MAPR subfamily. NA PE1 1 +NX_Q9UMX6 Guanylyl cyclase-activating protein 2 200 23420 4.75 0 Photoreceptor outer segment;Cell membrane Retinitis pigmentosa 48 Stimulates two retinal guanylyl cyclases (GCs) GUCY2D and GUCY2F when free calcium ions concentration is low, and inhibits GUCY2D and GUCY2F when free calcium ions concentration is elevated (By similarity). This Ca(2+)-sensitive regulation of GCs is a key event in recovery of the dark state of rod photoreceptors following light exposure (By similarity). May be involved in cone photoreceptor response and recovery of response in bright light (By similarity). The N-terminus is blocked. NA Olfactory transduction;Phototransduction;Inactivation, recovery and regulation of the phototransduction cascade PE1 6 +NX_Q9UMX9 Membrane-associated transporter protein 530 58268 7.17 12 Melanosome membrane Albinism, oculocutaneous, 4 Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis (By similarity). NA Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. Melanin biosynthesis PE1 5 +NX_Q9UMY1 Nucleolar protein 7 257 29426 9.68 0 Nucleus;Nucleolus NA NA NA NA NA PE1 6 +NX_Q9UMY4 Sorting nexin-12 162 18885 8.58 0 Membrane NA May be involved in several stages of intracellular trafficking. NA Belongs to the sorting nexin family. NA PE1 X +NX_Q9UMZ2 Synergin gamma 1314 140654 4.9 0 Cytoplasm;Cytosol;trans-Golgi network membrane NA May play a role in endocytosis and/or membrane trafficking at the trans-Golgi network (TGN). May act by linking the adapter protein complex AP-1 to other proteins. NA NA NA PE1 17 +NX_Q9UMZ3 Phosphatidylinositol phosphatase PTPRQ 2332 260924 5.57 1 Membrane;Cytosol Deafness, autosomal recessive, 84A;Deafness, autosomal dominant, 73 Phosphatidylinositol phosphatase required for auditory function. May act by regulating the level of phosphatidylinositol 4,5-bisphosphate (PIP2) level in the basal region of hair bundles. Can dephosphorylate a broad range of phosphatidylinositol phosphates, including phosphatidylinositol 3,4,5-trisphosphate and most phosphatidylinositol monophosphates and diphosphates. Phosphate can be hydrolyzed from the D3 and D5 positions in the inositol ring. Has low tyrosine-protein phosphatase activity; however, the relevance of such activity in vivo is unclear. Plays an important role in adipogenesis of mesenchymal stem cells (MSCs). Regulates the phosphorylation state of AKT1 by suppressing the phosphatidylinositol 3,4,5-trisphosphate (PIP3) level in MSCs and preadipocyte cells. NA Belongs to the protein-tyrosine phosphatase family. Receptor class 2A subfamily. NA PE1 12 +NX_Q9UN19 Dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide 280 32194 7.66 0 Membrane;Cytoplasm NA May act as a B-cell-associated adapter that regulates B-cell antigen receptor (BCR)-signaling downstream of PI3K. Phosphorylated on tyrosine residues.;DAPP1 is phosphorylated by BTK (Phosphotyrosine:PTM-0255) NA B cell receptor signaling pathway;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers PE1 4 +NX_Q9UN30 Sex comb on midleg-like protein 1 329 37447 6.42 0 Nucleoplasm;Nucleus NA Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. May be involved in spermatogenesis during sexual maturation (By similarity). NA Belongs to the SCM family. NA PE1 X +NX_Q9UN36 Protein NDRG2 371 40798 5.08 0 Golgi apparatus;Cytoplasm;Growth cone;Centriolar satellite;Nucleoplasm;Cytosol;Perinuclear region NA Contributes to the regulation of the Wnt signaling pathway. Down-regulates CTNNB1-mediated transcriptional activation of target genes, such as CCND1, and may thereby act as tumor suppressor. May be involved in dendritic cell and neuron differentiation. NA Belongs to the NDRG family. NA PE1 14 +NX_Q9UN37 Vacuolar protein sorting-associated protein 4A 437 48898 7.64 0 Midbody;Late endosome membrane;Prevacuolar compartment membrane NA Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). Involved in cytokinesis: retained at the midbody by ZFYVE19/ANCHR and CHMP4C until abscission checkpoint signaling is terminated at late cytokinesis. It is then released following dephosphorylation of CHMP4C, leading to abscission (PubMed:24814515). VPS4A/B are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). NA Belongs to the AAA ATPase family. Endocytosis;Budding and maturation of HIV virion;Endosomal Sorting Complex Required For Transport (ESCRT) PE1 16 +NX_Q9UN42 Protein ATP1B4 357 41598 4.69 1 Nucleus inner membrane NA May act as a transcriptional coregulator during muscle development through its interaction with SNW1. Has lost its ancestral function as a Na,K-ATPase beta-subunit. NA Belongs to the X(+)/potassium ATPases subunit beta family. Cardiac muscle contraction;Aldosterone-regulated sodium reabsorption;Endocrine and other factor-regulated calcium reabsorption;Proximal tubule bicarbonate reclamation;Salivary secretion;Gastric acid secretion;Pancreatic secretion;Carbohydrate digestion and absorption;Protein digestion and absorption;Bile secretion;Mineral absorption;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription PE1 X +NX_Q9UN66 Protocadherin beta-8 801 87639 4.77 1 Cell membrane NA Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9UN67 Protocadherin beta-10 800 87621 4.75 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9UN70 Protocadherin gamma-C3 934 101077 5.07 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9UN71 Protocadherin gamma-B4 923 99927 4.8 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9UN72 Protocadherin alpha-7 937 100865 5.08 1 Cell membrane NA Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE2 5 +NX_Q9UN73 Protocadherin alpha-6 950 102716 4.93 1 Cytoplasmic vesicle;Secreted;Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9UN74 Protocadherin alpha-4 947 102293 4.96 1 Nucleoplasm;Cytosol;Cell membrane NA Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9UN75 Protocadherin alpha-12 941 101652 5.13 1 Cytosol;Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9UN76 Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) 642 72153 8.53 12 Membrane;Cytoplasmic vesicle NA Mediates the uptake of a broad range of neutral and cationic amino acids (with the exception of proline) in a Na(+)/Cl(-)-dependent manner. NA Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A14 subfamily. Amino acid transport across the plasma membrane;Na+/Cl- dependent neurotransmitter transporters;Variant SLC6A14 may confer susceptibility towards obesity PE1 X +NX_Q9UN79 Transcription factor SOX-13 622 69228 6.26 0 Nucleoplasm;Nucleus NA Binds to the sequence 5'-AACAAT-3'. NA NA Deactivation of the beta-catenin transactivating complex PE1 1 +NX_Q9UN81 LINE-1 retrotransposable element ORF1 protein 338 40056 9.54 0 Cytoplasmic ribonucleoprotein granule;Stress granule;Nucleolus NA Nucleic acid-binding protein which is essential for retrotransposition of LINE-1 elements in the genome. Functions as a nucleic acid chaperone binding its own transcript and therefore preferentially mobilizing the transcript from which they are encoded. Polyubiquitinated, probably by UBR2, which induces its degradation. Belongs to the transposase 22 family. NA PE1 unknown +NX_Q9UN86 Ras GTPase-activating protein-binding protein 2 482 54121 5.41 0 Cytoplasm;Cytosol;Stress granule NA Scaffold protein that plays an essential role in cytoplasmic stress granule formation which acts as a platform for antiviral signaling. (Microbial infection) Cleaved by foot-and-mouth disease virus leader protease; this cleavage suppresses the formation of cytoplasmic stress granules.;Arg-457 and Arg-468 are dimethylated, probably to asymmetric dimethylarginine. NA NA PE1 4 +NX_Q9UN88 Gamma-aminobutyric acid receptor subunit theta 632 72022 5.55 3 Cell membrane;Postsynaptic cell membrane NA GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. NA Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRQ sub-subfamily. Neuroactive ligand-receptor interaction;GABAergic synapse;Signaling by ERBB4;GABA receptor activation PE1 X +NX_Q9UNA0 A disintegrin and metalloproteinase with thrombospondin motifs 5 930 101718 9.13 0 Nucleoplasm;Extracellular matrix NA Metalloproteinase that plays an important role in connective tissue organization, development, inflammation, arthritis, and cell migration. ADAMTS5 is an extracellular matrix (ECM) degrading enzyme that show proteolytic activity toward the hyalectan group of chondroitin sulfate proteoglycans (CSPGs) including aggrecan, versican, brevican and neurocan (PubMed:16133547, PubMed:18992360). Cleavage within the hyalectans occurs at Glu-Xaa recognition motifs. Plays a role in embryonic development, including limb and cardiac morphogenesis, and skeletal muscle development through its versican remodeling properties. Participates in development of brown adipose tissue and browning of white adipose tissue. Plays an important role for T-lymphocyte migration from draining lymph nodes following viral infection. C- and O-glycosylated. O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation can mediate the efficient secretion of ADAMTS family members. Can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).;The precursor is cleaved by furin and PCSK7 outside of the cell.;Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity). NA Degradation of the extracellular matrix;O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 21 +NX_Q9UNA1 Rho GTPase-activating protein 26 814 92235 6.2 0 Cytosol;Focal adhesion;Cytoskeleton Leukemia, juvenile myelomonocytic GTPase-activating protein for RHOA and CDC42. ARHGAP26 is phosphorylated by PKN3 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Rho GTPase cycle PE1 5 +NX_Q9UNA3 Alpha-1,4-N-acetylglucosaminyltransferase 340 39497 6.42 1 Golgi apparatus membrane NA Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans (PubMed:10430883). Necessary for the synthesis of type III mucin which is specifically produced in the stomach, duodenum, and pancreatic duct (PubMed:10430883). May protect against inflammation-associated gastric adenocarcinomas (By similarity). NA Belongs to the glycosyltransferase 32 family. Protein modification; protein glycosylation.;O-linked glycosylation of mucins PE1 3 +NX_Q9UNA4 DNA polymerase iota 740 83006 5.73 0 Cytoplasm;Cytosol;Nucleus speckle;Nucleus NA Error-prone DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Favors Hoogsteen base-pairing in the active site. Inserts the correct base with high-fidelity opposite an adenosine template. Exhibits low fidelity and efficiency opposite a thymidine template, where it will preferentially insert guanosine. May play a role in hypermutation of immunogobulin genes. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but may not have lyase activity. NA Belongs to the DNA polymerase type-Y family. Fanconi anemia pathway;Translesion synthesis by POLI;Termination of translesion DNA synthesis PE1 18 +NX_Q9UND3 Nuclear pore complex-interacting protein family member A1 350 40133 9.48 0 Nucleus membrane;Nuclear pore complex NA NA NA Belongs to the NPIP family. NA PE2 16 +NX_Q9UNE0 Tumor necrosis factor receptor superfamily member EDAR 448 48582 5.08 1 Membrane Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death. NA NA Cytokine-cytokine receptor interaction;TNFs bind their physiological receptors PE1 2 +NX_Q9UNE2 Rab effector Noc2 315 34464 9.23 0 Cytoplasm;Secretory vesicle membrane NA Rab GTPase effector involved in the late steps of regulated exocytosis, both in endocrine and exocrine cells (By similarity). Acts as a potential RAB3B effector protein in epithelial cells. NA NA NA PE1 17 +NX_Q9UNE7 E3 ubiquitin-protein ligase CHIP 303 34856 5.61 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus Spinocerebellar ataxia, autosomal recessive, 16;Spinocerebellar ataxia 48 E3 ubiquitin-protein ligase which targets misfolded chaperone substrates towards proteasomal degradation. Collaborates with ATXN3 in the degradation of misfolded chaperone substrates: ATXN3 restricting the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. Ubiquitinates NOS1 in concert with Hsp70 and Hsp40. Modulates the activity of several chaperone complexes, including Hsp70, Hsc70 and Hsp90. Mediates transfer of non-canonical short ubiquitin chains to HSPA8 that have no effect on HSPA8 degradation. Mediates polyubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair: catalyzes polyubiquitination by amplifying the HUWE1/ARF-BP1-dependent monoubiquitination and leading to POLB-degradation by the proteasome. Mediates polyubiquitination of CYP3A4. Ubiquitinates EPHA2 and may regulate the receptor stability and activity through proteasomal degradation. Acts as a co-chaperone for HSPA1A and HSPA1B chaperone proteins and promotes ubiquitin-mediated protein degradation (PubMed:27708256). Negatively regulates the suppressive function of regulatory T-cells (Treg) during inflammation by mediating the ubiquitination and degradation of FOXP3 in a HSPA1A/B-dependent manner (PubMed:23973223). Likely mediates polyubiquitination and downregulates plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity. Negatively regulates TGF-beta signaling by modulating the basal level of SMAD3 via ubiquitin-mediated degradation (PubMed:24613385). May regulate myosin assembly in striated muscles together with UBE4B and VCP/p97 by targeting myosin chaperone UNC45B for proteasomal degradation (PubMed:17369820). Mediates ubiquitination of RIPK3 leading to its subsequent proteasome-dependent degradation (PubMed:29883609). Monoubiquitinated at Lys-2 following cell stress by UBE2W, promoting the interaction with ATXN3 (By similarity). Auto-ubiquitinated; mediated by UBE2D1 and UBE2D2. NA Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;Antigen processing: Ubiquitination & Proteasome degradation;Downregulation of TGF-beta receptor signaling;Downregulation of ERBB2 signaling;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity PE1 16 +NX_Q9UNF0 Protein kinase C and casein kinase substrate in neurons protein 2 486 55739 5.08 0 Cytoplasm;Nucleus speckle;Cell membrane;Early endosome;Cell projection;Cytoplasmic vesicle membrane;Caveola;Recycling endosome membrane;Ruffle membrane;Cytoplasmic vesicle;Cytosol;Cytoskeleton NA Lipid-binding protein that is able to promote the tubulation of the phosphatidic acid-containing membranes it preferentially binds. Plays a role in intracellular vesicle-mediated transport. Involved in the endocytosis of cell-surface receptors like the EGF receptor, contributing to its internalization in the absence of EGF stimulus. May also play a role in the formation of caveolae at the cell membrane. Recruits DNM2 to caveolae, and thereby plays a role in caveola-mediated endocytosis. Phosphorylated by casein kinase 2 (CK2) and protein kinase C (PKC). Belongs to the PACSIN family. Clathrin-mediated endocytosis PE1 22 +NX_Q9UNF1 Melanoma-associated antigen D2 606 64954 9.35 0 Nucleoplasm;Cytosol;Nucleolus Bartter syndrome 5, antenatal, transient Regulates the expression, localization to the plasma membrane and function of the sodium chloride cotransporters SLC12A1 and SLC12A3, two key components of salt reabsorption in the distal renal tubule. NA NA Platelet degranulation PE1 X +NX_Q9UNG2 Tumor necrosis factor ligand superfamily member 18 199 22724 7.62 1 Cell membrane NA Cytokine that binds to TNFRSF18/AITR/GITR. Regulates T-cell responses. Can function as costimulator and lower the threshold for T-cell activation and T-cell proliferation. Important for interactions between activated T-lymphocytes and endothelial cells. Mediates activation of NF-kappa-B. Triggers increased phosphorylation of STAT1 and up-regulates expression of VCAM1 and ICAM1 (PubMed:23892569). Promotes leukocyte adhesion to endothelial cells (PubMed:23892569). Regulates migration of monocytes from the splenic reservoir to sites of inflammation (By similarity). NA Belongs to the tumor necrosis factor family. Cytokine-cytokine receptor interaction;TNFs bind their physiological receptors PE1 1 +NX_Q9UNH5 Dual specificity protein phosphatase CDC14A 594 66574 9.21 0 Nucleoplasm;Spindle pole;Centrosome;Kinocilium;Stereocilium;Cytosol;Spindle;Nucleus Deafness, autosomal recessive, 32, with or without immotile sperm Dual-specificity phosphatase. Required for centrosome separation and productive cytokinesis during cell division. Dephosphorylates SIRT2 around early anaphase. May dephosphorylate the APC subunit FZR1/CDH1, thereby promoting APC-FZR1 dependent degradation of mitotic cyclins and subsequent exit from mitosis. Required for normal hearing (PubMed:29293958). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class CDC14 subfamily. Cell cycle;MAPK6/MAPK4 signaling;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase PE1 1 +NX_Q9UNH6 Sorting nexin-7 387 45303 5.02 0 Cytoplasmic vesicle membrane;Cytosol;Nucleolus NA May be involved in several stages of intracellular trafficking. NA Belongs to the sorting nexin family. NA PE1 1 +NX_Q9UNH7 Sorting nexin-6 406 46649 5.81 0 Golgi apparatus;Cytoplasm;Early endosome;Endosome;Lysosome;Early endosome membrane;Cytoplasmic vesicle;Nucleus NA Involved in several stages of intracellular trafficking. Interacts with membranes phosphatidylinositol 3,4-bisphosphate and/or phosphatidylinositol 4,5-bisphosphate (Probable). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex (PubMed:19935774). The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC) (Probable). Does not have in vitro vesicle-to-membrane remodeling activity (PubMed:23085988). Involved in retrograde endosome-to-TGN transport of lysosomal enzyme receptor IGF2R (PubMed:17148574). May function as link between transport vesicles and dynactin (Probable). Negatively regulates retrograde transport of BACE1 from the cell surface to the trans-Golgi network (PubMed:20354142). Involved in E-cadherin sorting and degradation; inhibits PIP5K1C isoform 3-mediated E-cadherin degradation (PubMed:24610942). In association with GIT1 involved in EGFR degradation. Promotes lysosomal degradation of CDKN1B (By similarity). May contribute to transcription regulation (Probable). In vitro phosphorylated by PIM1; not affecting PIM1-dependent nuclear translocation (PubMed:11591366). Belongs to the sorting nexin family. NA PE1 14 +NX_Q9UNI1 Chymotrypsin-like elastase family member 1 258 27798 8.59 0 Secreted NA Acts upon elastin. NA Belongs to the peptidase S1 family. Elastase subfamily. NA PE1 12 +NX_Q9UNI6 Dual specificity protein phosphatase 12 340 37687 6.41 0 Nucleoplasm;Cytosol;Nucleus NA Dual specificity phosphatase; can dephosphorylate both phosphotyrosine and phosphoserine or phosphothreonine residues. Can dephosphorylate glucokinase (in vitro) (By similarity). Has phosphatase activity with the synthetic substrate 6,8-difluoro-4-methylumbelliferyl phosphate and other in vitro substrates (PubMed:10446167, PubMed:24531476). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. NA PE1 1 +NX_Q9UNK0 Syntaxin-8 236 26907 4.91 1 Membrane;Golgi apparatus;Cytosol;Nucleus NA Vesicle trafficking protein that functions in the early secretory pathway, possibly by mediating retrograde transport from cis-Golgi membranes to the ER. Ubiquitinated by HECTD3. Belongs to the syntaxin family. SNARE interactions in vesicular transport PE1 17 +NX_Q9UNK4 Group IID secretory phospholipase A2 145 16546 8.6 0 Secreted NA PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. L-alpha-1-palmitoyl-2-linoleoyl phosphatidylethanolamine is more efficiently hydrolyzed than the other phospholipids examined. NA Belongs to the phospholipase A2 family. Glycerophospholipid metabolism;Ether lipid metabolism;Arachidonic acid metabolism;Linoleic acid metabolism;alpha-Linolenic acid metabolism;Metabolic pathways;MAPK signaling pathway;Vascular smooth muscle contraction;VEGF signaling pathway;Fc epsilon RI signaling pathway;Glutamatergic synapse;Long-term depression;GnRH signaling pathway;Pancreatic secretion;Fat digestion and absorption;Toxoplasmosis;Synthesis of PA;Acyl chain remodelling of PG;Acyl chain remodelling of PC;Acyl chain remodelling of PS;Acyl chain remodelling of PE;Acyl chain remodelling of PI PE1 1 +NX_Q9UNK9 Protein angel homolog 1 670 75276 4.72 0 Nucleoplasm NA NA NA Belongs to the CCR4/nocturin family. NA PE1 14 +NX_Q9UNL2 Translocon-associated protein subunit gamma 185 21080 9.61 4 Endoplasmic reticulum membrane NA TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins. NA Belongs to the TRAP-gamma family. Protein processing in endoplasmic reticulum;SRP-dependent cotranslational protein targeting to membrane PE1 3 +NX_Q9UNL4 Inhibitor of growth protein 4 249 28530 7.53 0 Nucleoplasm;Nucleus NA Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Through chromatin acetylation it may function in DNA replication. May inhibit tumor progression by modulating the transcriptional output of signaling pathways which regulate cell proliferation. Can suppress brain tumor angiogenesis through transcriptional repression of RELA/NFKB3 target genes when complexed with RELA. May also specifically suppress loss of contact inhibition elicited by activated oncogenes such as MYC. Represses hypoxia inducible factor's (HIF) activity by interacting with HIF prolyl hydroxylase 2 (EGLN1). Can enhance apoptosis induced by serum starvation in mammary epithelial cell line HC11 (By similarity). Citrullination by PADI4 within the nuclear localization signal disrupts the interaction with p53 and increases susceptibility to degradation. Belongs to the ING family. HATs acetylate histones PE1 12 +NX_Q9UNM6 26S proteasome non-ATPase regulatory subunit 13 376 42945 5.53 0 Cytosol;Nucleus speckle NA Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. NA Belongs to the proteasome subunit S11 family. Proteasome;Activation of NF-kappaB in B cells;ER-Phagosome pathway;Cross-presentation of soluble exogenous antigens (endosomes);SCF-beta-TrCP mediated degradation of Emi1;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;Vpu mediated degradation of CD4;Vif-mediated degradation of APOBEC3G;Degradation of beta-catenin by the destruction complex;Regulation of activated PAK-2p34 by proteasome mediated degradation;Separation of Sister Chromatids;FCERI mediated NF-kB activation;Autodegradation of the E3 ubiquitin ligase COP1;Regulation of ornithine decarboxylase (ODC);AUF1 (hnRNP D0) binds and destabilizes mRNA;Asymmetric localization of PCP proteins;Degradation of AXIN;Degradation of DVL;Hedgehog ligand biogenesis;Hh mutants that don't undergo autocatalytic processing are degraded by ERAD;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;Hedgehog 'on' state;Regulation of RAS by GAPs;TNFR2 non-canonical NF-kB pathway;NIK-->noncanonical NF-kB signaling;MAPK6/MAPK4 signaling;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;CDK-mediated phosphorylation and removal of Cdc6;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;Antigen processing: Ubiquitination & Proteasome degradation;Downstream TCR signaling;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Autodegradation of Cdh1 by Cdh1:APC/C;SCF(Skp2)-mediated degradation of p27/p21;ABC-family proteins mediated transport;Defective CFTR causes cystic fibrosis;G2/M Checkpoints;The role of GTSE1 in G2/M progression after G2 checkpoint;UCH proteinases;Ub-specific processing proteases;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;Neutrophil degranulation;Neddylation;Regulation of RUNX3 expression and activity;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Regulation of RUNX2 expression and activity;Regulation of PTEN stability and activity;Regulation of expression of SLITs and ROBOs;Interleukin-1 signaling;Negative regulation of NOTCH4 signaling;Ubiquitin-dependent degradation of Cyclin D PE1 11 +NX_Q9UNN4 TFIIA-alpha and beta-like factor 478 52444 4.58 0 Nucleus NA May function as a testis specific transcription factor. Binds DNA in conjunction with GTF2A2 and TBP (the TATA-binding protein) and together with GTF2A2, allows mRNA transcription. NA Belongs to the TFIIA subunit 1 family. Basal transcription factors PE1 2 +NX_Q9UNN5 FAS-associated factor 1 650 73954 4.81 0 Nucleoplasm;Nucleus NA Ubiquitin-binding protein (PubMed:19722279). Required for the progression of DNA replication forks by targeting DNA replication licensing factor CDT1 for degradation (PubMed:26842564). Potentiates but cannot initiate FAS-induced apoptosis (By similarity). NA NA NA PE1 1 +NX_Q9UNN8 Endothelial protein C receptor 238 26671 6.7 1 Membrane;Cytoplasm;Cell membrane NA Binds activated protein C. Enhances protein C activation by the thrombin-thrombomodulin complex; plays a role in the protein C pathway controlling blood coagulation. N-glycosylated.;A soluble form exists; probably released by a metalloprotease. Seems to have the same activity as the membrane-bound form. NA Common Pathway of Fibrin Clot Formation;Cell surface interactions at the vascular wall PE1 20 +NX_Q9UNP4 Lactosylceramide alpha-2,3-sialyltransferase 418 47990 9.13 1 Cytoplasmic vesicle;Golgi apparatus membrane Salt and pepper developmental regression syndrome Catalyzes the formation of ganglioside GM3 (alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1, 4-beta-D-glucosylceramide). N-glycosylated. Belongs to the glycosyltransferase 29 family. Glycosphingolipid biosynthesis - ganglio series;Metabolic pathways;Sialic acid metabolism PE1 2 +NX_Q9UNP9 Peptidyl-prolyl cis-trans isomerase E 301 33431 5.41 0 Nucleus speckle;Nucleus NA Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28076346). Combines RNA-binding and PPIase activities (PubMed:8977107, PubMed:18258190, PubMed:20677832, PubMed:20460131). Binds mRNA and has a preference for single-stranded RNA molecules with poly-A and poly-U stretches, suggesting it binds to the poly(A)-region in the 3'-UTR of mRNA molecules (PubMed:8977107, PubMed:18258190, PubMed:20460131). Catalyzes the cis-trans isomerization of proline imidic peptide bonds in proteins (PubMed:8977107, PubMed:18258190, PubMed:20677832, PubMed:20541251). Inhibits KMT2A activity; this requires proline isomerase activity (PubMed:20677832, PubMed:20541251, PubMed:20460131). NA Belongs to the cyclophilin-type PPIase family. PPIase E subfamily. Spliceosome;mRNA Splicing - Major Pathway;Formation of TC-NER Pre-Incision Complex;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Neutrophil degranulation PE1 1 +NX_Q9UNQ0 Broad substrate specificity ATP-binding cassette transporter ABCG2 655 72314 8.91 6 Mitochondrion membrane;Nucleoplasm;Apical cell membrane;Cell membrane NA Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes a wide variety of physiological compounds, dietary toxins and xenobiotics from cells (PubMed:11306452, PubMed:12958161, PubMed:19506252, PubMed:20705604, PubMed:28554189, PubMed:30405239, PubMed:31003562). Involved in porphyrin homeostasis, mediating the export of protoporphyrin IX (PPIX) from both mitochondria to cytosol and cytosol to extracellular space, it also functions in the cellular export of heme (PubMed:20705604, PubMed:23189181). Also mediates the efflux of sphingosine-1-P from cells (PubMed:20110355). Acts as a urate exporter functioning in both renal and extrarenal urate excretion (PubMed:19506252, PubMed:20368174, PubMed:22132962, PubMed:31003562). In kidney, it also functions as a physiological exporter of the uremic toxin indoxyl sulfate (By similarity). Also involved in the excretion of steroids like estrone 3-sulfate/E1S, 3beta-sulfooxy-androst-5-en-17-one/DHEAS, and other sulfate conjugates (PubMed:12682043, PubMed:28554189, PubMed:30405239). Mediates the secretion of the riboflavin and biotin vitamins into milk (By similarity). Extrudes pheophorbide a, a phototoxic porphyrin catabolite of chlorophyll, reducing its bioavailability (By similarity). Plays an important role in the exclusion of xenobiotics from the brain (Probable). It confers to cells a resistance to multiple drugs and other xenobiotics including mitoxantrone, pheophorbide, camptothecin, methotrexate, azidothymidine, and the anthracyclines daunorubicin and doxorubicin, through the control of their efflux (PubMed:11306452, PubMed:12477054, PubMed:15670731, PubMed:18056989, PubMed:31254042). In placenta, it limits the penetration of drugs from the maternal plasma into the fetus (By similarity). May play a role in early stem cell self-renewal by blocking differentiation (By similarity). N-glycosylated (PubMed:15807535, PubMed:23189181). Glycosylation-deficient ABCG2 is normally expressed and functional.;Phosphorylated. Phosphorylation at Thr-362 by PIM1 is induced by drugs like mitoxantrone and is associated with cells increased drug resistance. It regulates the localization to the plasma membrane, the homooligomerization and therefore, the activity of the transporter. Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. ABC transporters;Bile secretion;Abacavir transmembrane transport;Iron uptake and transport PE1 4 +NX_Q9UNQ2 Probable dimethyladenosine transferase 313 35236 10.01 0 Nucleoplasm;Cytosol;Nucleolus NA Specifically dimethylates two adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 18S rRNA in the 40S particle (PubMed:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604). NA Belongs to the class I-like SAM-binding methyltransferase superfamily. rRNA adenine N(6)-methyltransferase family. rRNA modification in the nucleus and cytosol PE1 5 +NX_Q9UNS1 Protein timeless homolog 1208 138658 5.28 0 Nucleoplasm;Nucleus;Chromosome NA Plays an important role in the control of DNA replication, maintenance of replication fork stability, maintenance of genome stability throughout normal DNA replication, DNA repair and in the regulation of the circadian clock (PubMed:9856465, PubMed:17141802, PubMed:17296725, PubMed:23418588, PubMed:26344098). Required to stabilize replication forks during DNA replication by forming a complex with TIPIN: this complex regulates DNA replication processes under both normal and stress conditions, stabilizes replication forks and influences both CHEK1 phosphorylation and the intra-S phase checkpoint in response to genotoxic stress (PubMed:17141802, PubMed:17296725). TIMELESS promotes TIPIN nuclear localization (PubMed:17141802, PubMed:17296725). Involved in cell survival after DNA damage or replication stress by promoting DNA repair (PubMed:17141802, PubMed:17296725, PubMed:26344098, PubMed:30356214). In response to double-strand breaks (DSBs), accumulates at DNA damage sites and promotes homologous recombination repair via its interaction with PARP1 (PubMed:26344098, PubMed:30356214). May be specifically required for the ATR-CHEK1 pathway in the replication checkpoint induced by hydroxyurea or ultraviolet light (PubMed:15798197). Involved in the determination of period length and in the DNA damage-dependent phase advancing of the circadian clock (PubMed:23418588). Negatively regulates CLOCK|NPAS2-ARTNL/BMAL1|ARTNL2/BMAL2-induced transactivation of PER1 possibly via translocation of PER1 into the nucleus (PubMed:9856465). May also play an important role in epithelial cell morphogenesis and formation of branching tubules (By similarity). TIMELESS is phosphorylated by YES1 Belongs to the timeless family. Processing of DNA double-strand break ends PE1 12 +NX_Q9UNS2 COP9 signalosome complex subunit 3 423 47873 6.19 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. NA Belongs to the CSN3 family. Formation of TC-NER Pre-Incision Complex;DNA Damage Recognition in GG-NER;Cargo recognition for clathrin-mediated endocytosis;Neddylation PE1 17 +NX_Q9UNT1 Rab-like protein 2B 228 26101 4.75 0 Cytoplasm;Cilium basal body;Centriole NA Small GTPase required for ciliation. Activated in a guanine nucleotide exchange factor (GEF)-independent manner via its intrinsic GDP for GTP nucleotide exchange ability (PubMed:28625565). Involved in ciliary assembly by binding the intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia (PubMed:28625565, PubMed:28428259). NA Belongs to the small GTPase superfamily. Rab family. NA PE1 22 +NX_Q9UNU6 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase 501 58068 8.78 1 Microsome membrane;Endoplasmic reticulum membrane NA Involved in bile acid synthesis and is responsible for the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7 alpha, 12 alpha-dihydroxy-4-cholesten-3-one. Responsible for the balance between formation of cholic acid and chenodeoxycholic acid. Has a rather broad substrate specificity including a number of 7-alpha-hydroxylated C27 steroids. NA Belongs to the cytochrome P450 family. Primary bile acid biosynthesis;Metabolic pathways;PPAR signaling pathway;Synthesis of Prostaglandins (PG) and Thromboxanes (TX);Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 24-hydroxycholesterol;Synthesis of bile acids and bile salts via 27-hydroxycholesterol;Nicotinamide salvaging;Eicosanoids;Sterols are 12-hydroxylated by CYP8B1 PE1 3 +NX_Q9UNW1 Multiple inositol polyphosphate phosphatase 1 487 55051 7.93 0 Endoplasmic reticulum lumen Thyroid cancer, non-medullary, 2 Acts as a phosphoinositide 5- and phosphoinositide 6-phosphatase and regulates cellular levels of inositol pentakisphosphate (InsP5) and inositol hexakisphosphate (InsP6). Also acts as a 2,3-bisphosphoglycerate 3-phosphatase, by mediating the dephosphorylation of 2,3-bisphosphoglycerate (2,3-BPG) to produce phospho-D-glycerate without formation of 3-phosphoglycerate. May play a role in bone development (endochondral ossification). May play a role in the transition of chondrocytes from proliferation to hypertrophy (By similarity). NA Belongs to the histidine acid phosphatase family. MINPP1 subfamily. Inositol phosphate metabolism;Synthesis of IPs in the ER lumen PE1 10 +NX_Q9UNW8 Probable G-protein coupled receptor 132 380 42499 8.95 7 Cell membrane NA May be a receptor for oxidized free fatty acids derived from linoleic and arachidonic acids such as 9-hydroxyoctadecadienoic acid (9-HODE). Activates a G alpha protein, most likely G alpha(q). May be involved in apoptosis. Functions at the G2/M checkpoint to delay mitosis. May function as a sensor that monitors the oxidative states and mediates appropriate cellular responses such as secretion of paracrine signals and attenuation of proliferation. May mediate ths accumulation of intracellular inositol phosphates at acidic pH through proton-sensing activity. NA Belongs to the G-protein coupled receptor 1 family. G alpha (q) signalling events;Class A/1 (Rhodopsin-like receptors) PE1 14 +NX_Q9UNW9 RNA-binding protein Nova-2 492 49009 8.24 0 Golgi apparatus;Nucleoplasm;Nucleus NA May regulate RNA splicing or metabolism in a specific subset of developing neurons (By similarity). Binds single strand RNA. NA NA NA PE1 19 +NX_Q9UNX3 60S ribosomal protein L26-like 1 145 17256 10.55 0 NA NA NA NA Belongs to the universal ribosomal protein uL24 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 5 +NX_Q9UNX4 WD repeat-containing protein 3 943 106099 6.2 0 Nucleoplasm;Nucleolus NA NA NA Belongs to the WD repeat WDR3/UTP12 family. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 1 +NX_Q9UNX9 ATP-sensitive inward rectifier potassium channel 14 436 47846 5.25 2 Membrane;Nucleolus NA Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ14 gives rise to low-conductance channels with a low affinity to the channel blockers Barium and Cesium (By similarity). NA Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ14 subfamily. Cholinergic synapse;Classical Kir channels;Phase 4 - resting membrane potential PE1 19 +NX_Q9UNY4 Transcription termination factor 2 1162 129588 8.63 0 Cytoplasm;Cytosol;Nucleus NA DsDNA-dependent ATPase which acts as a transcription termination factor by coupling ATP hydrolysis with removal of RNA polymerase II from the DNA template. May contribute to mitotic transcription repression. May also be involved in pre-mRNA splicing. NA Belongs to the SNF2/RAD54 helicase family. NA PE1 1 +NX_Q9UNY5 Zinc finger protein 232 417 47688 6.28 0 Nucleoplasm;Cytosol;Nucleus;Cytoplasmic vesicle NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 17 +NX_Q9UNZ2 NSFL1 cofactor p47 370 40573 4.99 0 Cell membrane;Chromosome;Nucleoplasm;Centrosome;Cytosol;Golgi stack;Nucleus NA Reduces the ATPase activity of VCP (By similarity). Necessary for the fragmentation of Golgi stacks during mitosis and for VCP-mediated reassembly of Golgi stacks after mitosis (By similarity). May play a role in VCP-mediated formation of transitional endoplasmic reticulum (tER) (By similarity). Inhibits the activity of CTSL (in vitro) (PubMed:15498563). Together with UBXN2B/p37, regulates the centrosomal levels of kinase AURKA/Aurora A during mitotic progression by promoting AURKA removal from centrosomes in prophase (PubMed:23649807). Also, regulates spindle orientation during mitosis (PubMed:23649807). Phosphorylated during mitosis. Phosphorylation inhibits interaction with Golgi membranes and is required for the fragmentation of the Golgi stacks during mitosis (By similarity). Belongs to the NSFL1C family. Protein processing in endoplasmic reticulum PE1 20 +NX_Q9UNZ5 Leydig cell tumor 10 kDa protein homolog 99 10577 11.55 0 Nucleoplasm;Nucleus;Nucleolus NA May have a potential role in hypercalcemia of malignancy. NA Belongs to the UPF0390 family. NA PE1 19 +NX_Q9UP38 Frizzled-1 647 71158 8.33 7 Cell membrane NA Receptor for Wnt proteins (PubMed:10557084). Activated by WNT3A, WNT3, WNT1 and to a lesser extent WNT2, but apparently not by WNT4, WNT5A, WNT5B, WNT6, WNT7A or WNT7B (PubMed:10557084). Contradictory results showing activation by WNT7B have been described for mouse (By similarity). Functions in the canonical Wnt/beta-catenin signaling pathway (PubMed:10557084). The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (PubMed:10557084). A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable). Ubiquitinated by ZNRF3, leading to its degradation by the proteasome. Belongs to the G-protein coupled receptor Fz/Smo family. Wnt signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;Asymmetric localization of PCP proteins;Class B/2 (Secretin family receptors);TCF dependent signaling in response to WNT;PCP/CE pathway;Disassembly of the destruction complex and recruitment of AXIN to the membrane PE1 7 +NX_Q9UP52 Transferrin receptor protein 2 801 88755 5.72 1 Cytoplasm;Cell membrane Hemochromatosis 3 Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. NA Belongs to the peptidase M28 family. M28B subfamily. Transferrin endocytosis and recycling PE1 7 +NX_Q9UP65 Cytosolic phospholipase A2 gamma 541 60939 6.46 0 Membrane;Cytosol NA Has a preference for arachidonic acid at the sn-2 position of phosphatidylcholine as compared with palmitic acid. NA NA Acyl chain remodelling of PC;Acyl chain remodelling of PE;Acyl chain remodelling of PI;Hydrolysis of LPC;Hydrolysis of LPE PE1 19 +NX_Q9UP79 A disintegrin and metalloproteinase with thrombospondin motifs 8 889 96460 5.78 0 Extracellular matrix NA Has anti-angiogenic properties. Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).;The precursor is cleaved by a furin endopeptidase. NA Degradation of the extracellular matrix;O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 11 +NX_Q9UP83 Conserved oligomeric Golgi complex subunit 5 839 92743 6.15 0 Nucleoplasm;Golgi apparatus;Cytosol;Golgi apparatus membrane Congenital disorder of glycosylation 2I Required for normal Golgi function. NA Belongs to the COG5 family. Intra-Golgi traffic;COPI-mediated anterograde transport;Retrograde transport at the Trans-Golgi-Network PE1 7 +NX_Q9UP95 Solute carrier family 12 member 4 1085 120650 6.02 12 Membrane;Endosome NA Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May contribute to cell volume homeostasis in single cells. May be involved in the regulation of basolateral Cl(-) exit in NaCl absorbing epithelia (By similarity).;Has no transport activity. N-glycosylated. Belongs to the SLC12A transporter family. Cation-coupled Chloride cotransporters PE1 16 +NX_Q9UPA5 Protein bassoon 3926 416469 7.28 0 Cytoplasm;Presynaptic active zone;Synaptic vesicle membrane;Cytoskeleton NA Scaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released (PubMed:12812759). After synthesis, participates in the formation of Golgi-derived membranous organelles termed Piccolo-Bassoon transport vesicles (PTVs) that are transported along axons to sites of nascent synaptic contacts (PubMed:19380881). At the presynaptic active zone, regulates the spatial organization of synaptic vesicle cluster, the protein complexes that execute membrane fusion and compensatory endocytosis (By similarity). Functions also in processes other than assembly such as the regulation of specific presynaptic protein ubiquitination by interacting with SIAH1 or the regulation of presynaptic autophagy by associating with ATG5 (By similarity). Mediates also synapse to nucleus communication leading to reconfiguration of gene expression by associating with the transcriptional corepressor CTBP1 and by subsequently reducing the size of its pool available for nuclear import (By similarity). Myristoylated. The N-terminal myristoylation is not sufficient for presynaptic localization (By similarity). NA NA PE1 3 +NX_Q9UPC5 Probable G-protein coupled receptor 34 381 43860 9.89 7 Nucleoplasm;Cytosol;Cell membrane NA Orphan receptor. NA Belongs to the G-protein coupled receptor 1 family. NA PE1 X +NX_Q9UPE1 SRSF protein kinase 3 567 62014 6.83 0 NA NA Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains. Phosphorylates the SR splicing factor SRSF1 and the lamin-B receptor (LBR) in vitro. Required for normal muscle development (By similarity). NA Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. NA PE1 X +NX_Q9UPG8 Zinc finger protein PLAGL2 496 54584 8.95 0 Nucleoplasm;Cytosol;Nucleus NA Shows weak transcriptional activatory activity. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 20 +NX_Q9UPI3 Feline leukemia virus subgroup C receptor-related protein 2 526 57241 5.78 12 Cell membrane Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth and calcium metabolism. NA Belongs to the major facilitator superfamily. Feline leukemia virus subgroup C receptor (TC 2.A.1.28.1) family. NA PE1 14 +NX_Q9UPM6 LIM/homeobox protein Lhx6 363 40045 8.77 0 Nucleolus;Nucleus;Cell membrane NA Probable transcription factor required for the expression of a subset of genes involved in interneurons migration and development. Functions in the specification of cortical interneuron subtypes and in the migration of GABAergic interneuron precursors from the subpallium to the cerebral cortex (By similarity). NA NA NA PE1 9 +NX_Q9UPM8 AP-4 complex subunit epsilon-1 1137 127287 5.66 0 trans-Golgi network membrane Stuttering, familial persistent 1;Spastic paraplegia 51, autosomal recessive Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable). NA Belongs to the adaptor complexes large subunit family. Lysosome;Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis PE1 15 +NX_Q9UPM9 B9 domain-containing protein 1 204 22775 6.73 0 Cilium axoneme;Cilium basal body Meckel syndrome 9;Joubert syndrome 27 Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). NA Belongs to the B9D family. Anchoring of the basal body to the plasma membrane PE1 17 +NX_Q9UPN3 Microtubule-actin cross-linking factor 1, isoforms 1/2/3/5 7388 838308 5.28 0 Cytoplasm;Golgi apparatus;Cell membrane;Ruffle membrane;Cytoskeleton Lissencephaly 9 with complex brainstem malformation F-actin-binding protein which plays a role in cross-linking actin to other cytoskeletal proteins and also binds to microtubules (PubMed:15265687, PubMed:20937854). Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854). Acts as a positive regulator of Wnt receptor signaling pathway and is involved in the translocation of AXIN1 and its associated complex (composed of APC, CTNNB1 and GSK3B) from the cytoplasm to the cell membrane (By similarity). Has actin-regulated ATPase activity and is essential for controlling focal adhesions (FAs) assembly and dynamics (By similarity). Interaction with CAMSAP3 at the minus ends of non-centrosomal microtubules tethers microtubules minus-ends to actin filaments, regulating focal adhesion size and cell migration (PubMed:27693509). May play role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with GOLGA4 (PubMed:15265687). Plays a key role in wound healing and epidermal cell migration (By similarity). Required for efficient upward migration of bulge cells in response to wounding and this function is primarily rooted in its ability to coordinate microtubule dynamics and polarize hair follicle stem cells (By similarity). As a regulator of actin and microtubule arrangement and stabilization, it plays an essential role in neurite outgrowth, branching and spine formation during brain development (By similarity). Phosphorylated on serine residues in the C-terminal tail by GSK3B. Phosphorylation inhibits microtubule-binding and this plays a critical role in bulge stem cell migration and skin wound repair. Wnt-signaling can repress phosphorylation (By similarity).;MACF1 is phosphorylated by GSK3B (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the plakin or cytolinker family. NA PE1 1 +NX_Q9UPN4 Centrosomal protein of 131 kDa 1083 122149 8.84 0 Acrosome;Centriolar satellite;Cilium basal body;Centrosome;Cytoskeleton NA Component of centriolar satellites contributing to the building of a complex and dynamic network required to regulate cilia/flagellum formation (PubMed:17954613, PubMed:24185901). In proliferating cells, MIB1-mediated ubiquitination induces its sequestration within centriolar satellites, precluding untimely cilia formation initiation (PubMed:24121310). In contrast, during normal and ultraviolet or heat shock cellular stress-induced ciliogenesis, its non-ubiquitinated form is rapidly displaced from centriolar satellites and recruited to centrosome/basal bodies in a microtubule- and p38 MAPK-dependent manner (PubMed:24121310, PubMed:26616734). Acts also as a negative regulator of BBSome ciliary trafficking (PubMed:24550735). Plays a role in sperm flagellar formation; may be involved in the regulation of intraflagellar transport (IFT) and/or intramanchette (IMT) trafficking, which are important for axoneme extension and/or cargo delivery to the nascent sperm tail (By similarity). Required for optimal cell proliferation and cell cycle progression; may play a role in the regulation of genome stability in non-ciliogenic cells (PubMed:22797915, PubMed:26297806). Involved in centriole duplication (By similarity). Required for CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:26297806). MAPKAPK2-dependent phosphorylation at Ser-47 and Ser-78 occurs in response to cellular stress such as exposure to ultraviolet irradiation and promotes binding to 14-3-3 proteins which leads to cytoplasmic sequestration of CEP131 and blocks formation of new centriolar satellites.;Ubiquitinated. Undergoes monoubiquitination catalyzed by the E3 ubiquitin-protein ligase MIB1 in proliferating cells, preventing cilia formation. Monoubiquitination by MIB1 is inhibited in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, resulting in cilia formation initiation. Belongs to the CEP131 family. Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 17 +NX_Q9UPN6 SR-related and CTD-associated factor 8 1271 140519 8.41 0 Nucleoplasm;Nucleus matrix;Nucleus NA Anti-terminator protein required to prevent early mRNA termination during transcription (PubMed:31104839). Together with SCAF4, acts by suppressing the use of early, alternative poly(A) sites, thereby preventing the accumulation of non-functional truncated proteins (PubMed:31104839). Mechanistically, associates with the phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit (POLR2A), and subsequently binds nascent RNA upstream of early polyadenylation sites to prevent premature mRNA transcript cleavage and polyadenylation (PubMed:31104839). Independently of SCAF4, also acts as a positive regulator of transcript elongation (PubMed:31104839). NA NA NA PE1 6 +NX_Q9UPN7 Serine/threonine-protein phosphatase 6 regulatory subunit 1 881 96724 4.45 0 Cytoplasm;Cytosol NA Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha. NA Belongs to the SAPS family. COPII-mediated vesicle transport PE1 19 +NX_Q9UPN9 E3 ubiquitin-protein ligase TRIM33 1127 122533 6.23 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Acts as an E3 ubiquitin-protein ligase. Promotes SMAD4 ubiquitination, nuclear exclusion and degradation via the ubiquitin proteasome pathway. According to PubMed:16751102, does not promote a decrease in the level of endogenous SMAD4. May act as a transcriptional repressor. Inhibits the transcriptional response to TGF-beta/BMP signaling cascade. Plays a role in the control of cell proliferation. Its association with SMAD2 and SMAD3 stimulates erythroid differentiation of hematopoietic stem/progenitor (By similarity). Monoubiquitinates SMAD4 and acts as an inhibitor of SMAD4-dependent TGF-beta/BMP signaling cascade (Monoubiquitination of SMAD4 hampers its ability to form a stable complex with activated SMAD2/3 resulting in inhibition of TGF-beta/BMP signaling cascade). Sumoylated with SUMO1. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Downregulation of SMAD2/3:SMAD4 transcriptional activity PE1 1 +NX_Q9UPP1 Histone lysine demethylase PHF8 1060 117864 8.92 0 Nucleoplasm;Nucleolus;Nucleus Mental retardation, X-linked, syndromic, Siderius type Histone lysine demethylase with selectivity for the di- and monomethyl states that plays a key role cell cycle progression, rDNA transcription and brain development. Demethylates mono- and dimethylated histone H3 'Lys-9' residue (H3K9Me1 and H3K9Me2), dimethylated H3 'Lys-27' (H3K27Me2) and monomethylated histone H4 'Lys-20' residue (H4K20Me1). Acts as a transcription activator as H3K9Me1, H3K9Me2, H3K27Me2 and H4K20Me1 are epigenetic repressive marks. Involved in cell cycle progression by being required to control G1-S transition. Acts as a coactivator of rDNA transcription, by activating polymerase I (pol I) mediated transcription of rRNA genes. Required for brain development, probably by regulating expression of neuron-specific genes. Only has activity toward H4K20Me1 when nucleosome is used as a substrate and when not histone octamer is used as substrate. May also have weak activity toward dimethylated H3 'Lys-36' (H3K36Me2), however, the relevance of this result remains unsure in vivo. Specifically binds trimethylated 'Lys-4' of histone H3 (H3K4me3), affecting histone demethylase specificity: has weak activity toward H3K9Me2 in absence of H3K4me3, while it has high activity toward H3K9me2 when binding H3K4me3. Phosphorylation at Ser-69 and Ser-120 are required for dissociation from chromatin and accumulation of H4K20Me1 levels during prophase. Belongs to the JHDM1 histone demethylase family. JHDM1D subfamily. Condensation of Prophase Chromosomes;HDMs demethylate histones PE1 X +NX_Q9UPP2 IQ motif and SEC7 domain-containing protein 3 1182 127621 6.08 0 Nucleoplasm;Cytosol;Cytoplasm;Postsynaptic density NA Acts as a guanine nucleotide exchange factor (GEF) for ARF1. NA Belongs to the BRAG family. Endocytosis PE1 12 +NX_Q9UPP5 AP2-interacting clathrin-endocytosis protein 1279 140918 5.93 0 Clathrin-coated vesicle;Presynapse;Axon NA Involved in clathrin-mediated endocytosis at the synapse. Plays a role in neuronal development and in synaptic vesicle recycling in mature neurons, a process required for normal synaptic transmission. NA NA NA PE1 1 +NX_Q9UPQ0 LIM and calponin homology domains-containing protein 1 1083 121867 6.1 0 Stress fiber;Cytoskeleton;Cell membrane NA Actin stress fibers-associated protein that activates non-muscle myosin IIa. Activates the non-muscle myosin IIa complex by promoting the phosphorylation of its regulatory subunit MRLC/MYL9. Through the activation of non-muscle myosin IIa, positively regulates actin stress fibers assembly and stabilizes focal adhesions. It therefore negatively regulates cell spreading and cell migration. NA Belongs to the LIMCH1 family. NA PE1 4 +NX_Q9UPQ3 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 857 94470 8.18 0 Cytoplasm NA GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system. Phosphorylated on tyrosines. Belongs to the centaurin gamma-like family. Endocytosis PE1 2 +NX_Q9UPQ4 Tripartite motif-containing protein 35 493 56540 6.71 0 Cytoplasm;Nucleoplasm;Nucleus NA Reduces FGFR1-dependent tyrosine phosphorylation of PKM, inhibiting PKM-dependent lactate production, glucose metabolism, and cell growth (PubMed:25263439). Involved in the cell death mechanism (By similarity). NA Belongs to the TRIM/RBCC family. Interferon gamma signaling PE1 8 +NX_Q9UPQ7 E3 ubiquitin-protein ligase PDZRN3 1066 119596 5.68 0 Cytoplasm;Synapse NA E3 ubiquitin-protein ligase. Plays an important role in regulating the surface level of MUSK on myotubes. Mediates the ubiquitination of MUSK, promoting its endocytosis and lysosomal degradation. Might contribute to terminal myogenic differentiation. Auto-ubiquitinated. NA Protein modification; protein ubiquitination. PE1 3 +NX_Q9UPQ8 Dolichol kinase 538 59268 8.87 15 Golgi apparatus;Endoplasmic reticulum membrane;Nucleolus;Nucleoplasm;Cytosol Congenital disorder of glycosylation 1M Involved in the synthesis of the sugar donor Dol-P-Man which is required in the synthesis of N-linked and O-linked oligosaccharides and for that of GPI anchors. NA Belongs to the polyprenol kinase family. N-Glycan biosynthesis;Metabolic pathways;Synthesis of Dolichyl-phosphate;Defective DOLK causes DOLK-CDG (CDG-1m) PE1 9 +NX_Q9UPQ9 Trinucleotide repeat-containing gene 6B protein 1833 194002 6.31 0 P-body NA Plays a role in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (siRNAs). Required for miRNA-dependent translational repression and siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins. As scaffoldng protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4-NOT and PAN deadenylase complexes. NA Belongs to the GW182 family. MAPK6/MAPK4 signaling;Oxidative Stress Induced Senescence;Pre-NOTCH Transcription and Translation;TP53 Regulates Metabolic Genes;Ca2+ pathway;Post-transcriptional silencing by small RNAs;Oncogene Induced Senescence;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Regulation of RUNX1 Expression and Activity;Regulation of PTEN mRNA translation;Competing endogenous RNAs (ceRNAs) regulate PTEN translation;Estrogen-dependent gene expression;Transcriptional Regulation by MECP2;Regulation of MECP2 expression and activity PE1 22 +NX_Q9UPR0 Inactive phospholipase C-like protein 2 1127 125866 6.47 0 Cytoplasm NA May play an role in the regulation of Ins(1,4,5)P3 around the endoplasmic reticulum. NA NA NA PE1 3 +NX_Q9UPR3 Protein SMG5 1016 113928 5.63 0 Cytoplasm;Cytosol;Nucleus NA Plays a role in nonsense-mediated mRNA decay. Does not have RNase activity by itself. Promotes dephosphorylation of UPF1. Together with SMG7 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation. Necessary for TERT activity. NA NA mRNA surveillance pathway;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) PE1 1 +NX_Q9UPR5 Sodium/calcium exchanger 2 921 100368 5.02 11 Dendritic spine;Cell membrane;Basolateral cell membrane;Perikaryon;Dendrite NA Mediates the electrogenic exchange of Ca(2+) against Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes. Contributes to cellular Ca(2+) homeostasis in excitable cells. Contributes to the rapid decrease of cytoplasmic Ca(2+) levels back to baseline after neuronal activation, and thereby contributes to modulate synaptic plasticity, learning and memory. Plays a role in regulating urinary Ca(2+) and Na(+) excretion. NA Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC8 subfamily. Calcium signaling pathway;Protein digestion and absorption;Reduction of cytosolic Ca++ levels;Sodium/Calcium exchangers;Ion homeostasis PE1 19 +NX_Q9UPR6 Zinc finger RNA-binding protein 2 939 101330 8.76 0 Nucleoplasm NA NA NA NA NA PE1 19 +NX_Q9UPS6 Histone-lysine N-methyltransferase SETD1B 1966 212803 4.86 0 Nucleoplasm;Nucleus speckle;Chromosome NA Histone methyltransferase that specifically methylates 'Lys-4' of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring 'Lys-9' residue is already methylated. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. The non-overlapping localization with SETD1A suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression. Specifically tri-methylates 'Lys-4' of histone H3 in vitro. NA Belongs to the class V-like SAM-binding methyltransferase superfamily. Lysine degradation;PKMTs methylate histone lysines;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function PE1 12 +NX_Q9UPS8 Ankyrin repeat domain-containing protein 26 1710 196411 5.54 0 Golgi apparatus;Cytoplasmic vesicle Thrombocytopenia 2 Acts as a regulator of adipogenesis. Involved in the regulation of the feeding behavior. NA NA NA PE1 10 +NX_Q9UPT5 Exocyst complex component 7 735 83382 6.33 0 Cytoplasmic vesicle;Cytosol;Cell membrane;Midbody ring NA Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. In adipocytes, plays a crucial role in targeting SLC2A4 vesicle to the plasma membrane in response to insulin, perhaps directing the vesicle to the precise site of fusion (By similarity). NA Belongs to the EXO70 family. Insulin signaling pathway;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Insulin processing;VxPx cargo-targeting to cilium PE1 17 +NX_Q9UPT6 C-Jun-amino-terminal kinase-interacting protein 3 1336 147457 5.26 0 Golgi apparatus;Cytoplasm;Growth cone;Dendrite;Cytoplasmic vesicle;Axon;Perinuclear region NA The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module (PubMed:12189133). May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity). Promotes neuronal axon elongation in a kinesin- and JNK-dependent manner. Activates cofilin at axon tips via local activation of JNK, thereby regulating filopodial dynamics and enhancing axon elongation. Its binding to kinesin heavy chains (KHC), promotes kinesin-1 motility along microtubules and is essential for axon elongation and regeneration. Regulates cortical neuronal migration by mediating NTRK2/TRKB anterograde axonal transport during brain development (By similarity). Acts as an adapter that bridges the interaction between NTRK2/TRKB and KLC1 and drives NTRK2/TRKB axonal but not dendritic anterograde transport, which is essential for subsequent BDNF-triggered signaling and filopodia formation (PubMed:21775604). Phosphorylation by ROCK1 is crucial for the recruitment of JNK. Belongs to the JIP scaffold family. MAPK signaling pathway PE1 16 +NX_Q9UPT8 Zinc finger CCCH domain-containing protein 4 1303 140257 5.87 0 Nucleoplasm;Cytosol;Nucleus NA NA NA NA NA PE1 19 +NX_Q9UPT9 Ubiquitin carboxyl-terminal hydrolase 22 525 59961 8.37 0 Nucleus speckle;Nucleus NA Histone deubiquitinating component of the transcription regulatory histone acetylation (HAT) complex SAGA. Catalyzes the deubiquitination of both histones H2A and H2B, thereby acting as a coactivator. Recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation and cell cycle progression. NA Belongs to the peptidase C19 family. UBP8 subfamily. HATs acetylate histones;Ub-specific processing proteases PE1 17 +NX_Q9UPU3 VPS10 domain-containing receptor SorCS3 1222 135755 6.14 1 Membrane NA NA NA Belongs to the VPS10-related sortilin family. SORCS subfamily. NA PE1 10 +NX_Q9UPU5 Ubiquitin carboxyl-terminal hydrolase 24 2620 294365 5.79 0 Nucleoplasm;Cytosol NA Ubiquitin-specific protease that regulates cell survival in various contexts through modulating the protein stability of some of its substrates including DDB2, MCL1 or TP53. Plays a positive role on ferritinophagy where ferritin is degraded in lysosomes and releases free iron. NA Belongs to the peptidase C19 family. Ub-specific processing proteases PE1 1 +NX_Q9UPU7 TBC1 domain family member 2B 963 109880 5.85 0 Cytosol NA May act as a GTPase-activating protein. NA NA NA PE1 15 +NX_Q9UPU9 Protein Smaug homolog 1 718 79415 8.61 0 Cytoplasm;Synaptosome;Cell junction;Cytosol;Dendrite NA Acts as a translational repressor of SRE-containing messengers. NA Belongs to the SMAUG family. NA PE1 14 +NX_Q9UPV0 Centrosomal protein of 164 kDa 1460 164314 5.27 0 Nucleoplasm;Centrosome;Nucleus;Centriole Nephronophthisis 15 Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1. Phosphorylation at Ser-186 is induced upon DNA-damage caused by treatment with IR irradiation, UV irradiation, hydroxyurea or amphidicolin. Also MDC1-mediated chromatin remodeling is critical for DNA damage-induced phosphorylation. NA Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 11 +NX_Q9UPV7 PHD finger protein 24 400 45192 5.48 0 NA NA NA NA NA NA PE1 9 +NX_Q9UPV9 Trafficking kinesin-binding protein 1 953 106040 5.59 0 Cytoplasm;Cell cortex;Mitochondrion;Early endosome;Endoplasmic reticulum;Endosome;Nucleoplasm;Mitochondrion membrane;Nucleus Epileptic encephalopathy, early infantile, 68 Involved in the regulation of endosome-to-lysosome trafficking, including endocytic trafficking of EGF-EGFR complexes and GABA-A receptors (PubMed:18675823). Involved in mitochondrial motility. When O-glycosylated, abolishes mitochondrial motility. Crucial for recruiting OGT to the mitochondrial surface of neuronal processes (PubMed:24995978). TRAK1 and RHOT form an essential protein complex that links KIF5 to mitochondria for light chain-independent, anterograde transport of mitochondria (By similarity). O-glycosylated (PubMed:24995978, PubMed:12435728). Glycosylated by OGT; glycosylation in response to increased extracellular glucose levels is required for and leads to regulation of mitochondrial motility by OGT (PubMed:24995978). Belongs to the milton family. Signaling by BRAF and RAF fusions PE1 3 +NX_Q9UPW0 Forkhead box protein J3 622 68960 6.59 0 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasmic vesicle NA Transcriptional activator of MEF2C involved in the regulation pf adult muscle fiber type identity and skeletal muscle regeneration. NA NA NA PE1 1 +NX_Q9UPW5 Cytosolic carboxypeptidase 1 1226 138448 5.78 0 Cytoplasm;Mitochondrion;Nucleolus;Cytoplasmic vesicle;Cytosol;Nucleus Neurodegeneration, childhood-onset, with cerebellar atrophy Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins (PubMed:30420557). Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5. NA Belongs to the peptidase M14 family. Carboxyterminal post-translational modifications of tubulin PE1 9 +NX_Q9UPW6 DNA-binding protein SATB2 733 82555 6.44 0 Nucleoplasm;Nucleus matrix Cleft palate isolated Binds to DNA, at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcription factor controlling nuclear gene expression, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a docking site for several chromatin remodeling enzymes and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Required for the initiation of the upper-layer neurons (UL1) specific genetic program and for the inactivation of deep-layer neurons (DL) and UL2 specific genes, probably by modulating BCL11B expression. Repressor of Ctip2 and regulatory determinant of corticocortical connections in the developing cerebral cortex. May play an important role in palate formation. Acts as a molecular node in a transcriptional network regulating skeletal development and osteoblast differentiation. Sumoylated by PIAS1. Sumoylation promotes nuclear localization, but represses transcription factor activity. Belongs to the CUT homeobox family. SUMOylation of chromatin organization proteins;RUNX2 regulates osteoblast differentiation PE1 2 +NX_Q9UPW8 Protein unc-13 homolog A 1703 193014 5.21 0 Cytoplasm;Presynaptic active zone;Presynaptic cell membrane;Cell membrane NA Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-dependent refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in most excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity). Also involved in secretory granule priming in insulin secretion (By similarity). Interacts with FBXO45 (via SRY domain); leading to the degradation of UNC13A by the proteasome (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003). NA Belongs to the unc-13 family. Synaptic vesicle cycle PE1 19 +NX_Q9UPX0 Protein turtle homolog B 1349 147089 6.22 1 Cytosol;Postsynaptic density;Postsynaptic cell membrane NA Transmembrane protein which is abundantly expressed in interneurons, where it may regulate inhibitory synapse development. May mediate homophilic cell adhesion. N-glycosylated and sialylated. Not significantly O-glycosylated. Belongs to the immunoglobulin superfamily. Turtle family. NA PE1 11 +NX_Q9UPX6 Major intrinsically disordered Notch2-binding receptor 1 916 102993 7.04 1 Golgi apparatus;Cell membrane NA Intrinsically disordered protein which may negatively regulate mTOR signaling pathway by stabilizing the mTOR complex component DEPTOR (PubMed:30080879). Negatively regulates angiogenesis (PubMed:29329397). Negatively regulates cell growth (PubMed:29329397, PubMed:30080879). Negatively regulates neurite outgrowth in hippocampal neurons (By similarity). NA Belongs to the MINAR family. NA PE1 15 +NX_Q9UPX8 SH3 and multiple ankyrin repeat domains protein 2 1470 158822 6.48 0 Cytoplasm;Dendritic spine;Nucleus speckle;Growth cone;Nucleoplasm;Postsynaptic density;Synapse;Cytoplasmic vesicle;Apical cell membrane Autism 17 Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors, and the actin-based cytoskeleton. May play a role in the structural and functional organization of the dendritic spine and synaptic junction. NA Belongs to the SHANK family. Glutamatergic synapse;Neurexins and neuroligins PE1 11 +NX_Q9UPY3 Endoribonuclease Dicer 1922 218682 5.47 0 Cytoplasm;Cytosol Global developmental delay, lung cysts, overgrowth, and Wilms tumor;Pleuropulmonary blastoma;Rhabdomyosarcoma, embryonal, 2;Goiter multinodular 1, with or without Sertoli-Leydig cell tumors Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twenty-three nucleotides with 3' overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA-induced silencing complex (RISC) to complementary RNAs to degrade them or prevent their translation. Gene silencing mediated by siRNAs, also called RNA interference, controls the elimination of transcripts from mobile and repetitive DNA elements of the genome but also the degradation of exogenous RNA of viral origin for instance. The miRNA pathway on the other side is a mean to specifically regulate the expression of target genes. NA Belongs to the helicase family. Dicer subfamily. MicroRNA (miRNA) biogenesis;Small interfering RNA (siRNA) biogenesis PE1 14 +NX_Q9UPY5 Cystine/glutamate transporter 501 55423 9.29 12 Membrane;Cytoplasmic vesicle NA Sodium-independent, high-affinity exchange of anionic amino acids with high specificity for anionic form of cystine and glutamate. NA Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. Amino acid transport across the plasma membrane;Basigin interactions PE1 4 +NX_Q9UPY6 Wiskott-Aldrich syndrome protein family member 3 502 55293 6 0 Cytoskeleton NA Downstream effector molecules involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. Phosphorylation by ABL1 promotes lamellipodia formation and cell migration. Belongs to the SCAR/WAVE family. Adherens junction;Fc gamma R-mediated phagocytosis;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;VEGFA-VEGFR2 Pathway PE1 13 +NX_Q9UPY8 Microtubule-associated protein RP/EB family member 3 281 31982 5.33 0 Cytosol;Cytoskeleton NA Plus-end tracking protein (+TIP) that binds to the plus-end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth. May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes. Also acts as a regulator of minus-end microtubule organization: interacts with the complex formed by AKAP9 and PDE4DIP, leading to recruit CAMSAP2 to the Golgi apparatus, thereby tethering non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:28814570). Promotes elongation of CAMSAP2-decorated microtubule stretches on the minus-end of microtubules (PubMed:28814570). May play a role in cell migration (By similarity). NA Belongs to the MAPRE family. NA PE1 2 +NX_Q9UPZ3 Hermansky-Pudlak syndrome 5 protein 1129 127449 5.35 0 Cytosol Hermansky-Pudlak syndrome 5 May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins. NA Belongs to the HPS5 family. NA PE1 11 +NX_Q9UPZ6 Thrombospondin type-1 domain-containing protein 7A 1657 185363 7.74 1 Secreted;Cell projection;Cell membrane NA Thrombospondin type-1 domain-containing protein 7A, soluble form: The soluble form promotes endothelial cell migration and filopodia formation during sprouting angiogenesis via a FAK-dependent mechanism.;Thrombospondin type-1 domain-containing protein 7A: Plays a role in actin cytoskeleton rearrangement. Proteolytic cleavage in the extracellular region generates a 210 kDa soluble form.;Extensively N-glycosylated. NA O-glycosylation of TSR domain-containing proteins;Defective B3GALTL causes Peters-plus syndrome (PpS) PE1 7 +NX_Q9UPZ9 Serine/threonine-protein kinase ICK 632 71427 9.79 0 Cytoplasm;Cilium;Nucleolus;Cilium basal body;Cytosol;Nucleus Endocrine-cerebroosteodysplasia;Juvenile myoclonic epilepsy 10 Required for ciliogenesis (PubMed:24797473). Phosphorylates KIF3A (By similarity). Involved in the control of ciliary length (PubMed:24853502). Regulates the ciliary localization of SHH pathway components as well as the localization of IFT components at ciliary tips (By similarity). May play a key role in the development of multiple organ systems and particularly in cardiac development (By similarity). Regulates intraflagellar transport (IFT) speed and negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner and this regulation requires its kinase activity (By similarity). Autophosphorylated on serine and threonine residues. Phosphorylation at Thr-157 increases kinase activity. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. NA PE1 6 +NX_Q9UQ03 Coronin-2B 480 54953 8.53 0 Focal adhesion;Cell membrane;Cytoskeleton NA May play a role in the reorganization of neuronal actin structure. NA Belongs to the WD repeat coronin family. NA PE1 15 +NX_Q9UQ05 Potassium voltage-gated channel subfamily H member 4 1017 111693 8.87 6 Membrane NA Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current, but shows no inactivation. Channel properties may be modulated by cAMP and subunit assembly. NA Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.3/KCNH4 sub-subfamily. Voltage gated Potassium channels PE2 17 +NX_Q9UQ07 MAPK/MAK/MRK overlapping kinase 419 48014 9.64 0 Endoplasmic reticulum;Cytoplasm;Cilium;Nucleus NA Able to phosphorylate several exogenous substrates and to undergo autophosphorylation. Negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner. Autophosphorylated. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. NA PE1 14 +NX_Q9UQ10 Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase 334 36382 6.76 0 Nucleoplasm;Cytoskeleton NA NA NA Belongs to the Gfo/Idh/MocA family. Pentose and glucuronate interconversions;Metabolism of xenobiotics by cytochrome P450 PE1 19 +NX_Q9UQ13 Leucine-rich repeat protein SHOC-2 582 64888 8.65 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus Noonan syndrome-like disorder with loose anagen hair 1 Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the 'Ser-259' inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes. NA Belongs to the SHOC2 family. NA PE1 10 +NX_Q9UQ16 Dynamin-3 869 97746 8.51 0 Golgi apparatus;Cytoplasm;Cytoskeleton NA Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes, in particular endocytosis (By similarity). NA Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. Endocytosis;Fc gamma R-mediated phagocytosis;Synaptic vesicle cycle;Endocrine and other factor-regulated calcium reabsorption;Bacterial invasion of epithelial cells;MHC class II antigen presentation;Toll Like Receptor 4 (TLR4) Cascade;Retrograde neurotrophin signalling;Recycling pathway of L1;Clathrin-mediated endocytosis PE1 1 +NX_Q9UQ26 Regulating synaptic membrane exocytosis protein 2 1411 160403 9.17 0 Cytosol;Synapse;Presynaptic cell membrane;Cell membrane NA Rab effector involved in exocytosis. May act as scaffold protein. Plays a role in dendrite formation by melanocytes (PubMed:23999003). NA NA NA PE1 8 +NX_Q9UQ35 Serine/arginine repetitive matrix protein 2 2752 299615 12.05 0 Cytoplasm;Nucleus speckle;Nucleus NA Required for pre-mRNA splicing as component of the spliceosome. NA Belongs to the CWC21 family. mRNA Splicing - Major Pathway PE1 16 +NX_Q9UQ49 Sialidase-3 428 48252 6.78 0 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA Plays a role in modulating the ganglioside content of the lipid bilayer at the level of membrane-bound sialyl glycoconjugates. NA Belongs to the glycosyl hydrolase 33 family. Sialic acid metabolism;Glycosphingolipid metabolism PE1 11 +NX_Q9UQ52 Contactin-6 1028 113956 5.73 0 Cell membrane NA Contactins mediate cell surface interactions during nervous system development. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Involved in motor coordination (By similarity). NA Belongs to the immunoglobulin superfamily. Contactin family. CHL1 interactions PE1 3 +NX_Q9UQ53 Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B 548 63198 7.72 1 Golgi apparatus membrane NA Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains. Has lower affinities for donors or acceptors than MGAT4A, suggesting that, under physiological conditions, it is not the main contributor in N-glycan biosynthesis. NA Belongs to the glycosyltransferase 54 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;N-Glycan antennae elongation PE1 5 +NX_Q9UQ72 Pregnancy-specific beta-1-glycoprotein 11 335 37146 6.65 0 Secreted NA NA NA Belongs to the immunoglobulin superfamily. CEA family. Cell surface interactions at the vascular wall PE1 19 +NX_Q9UQ74 Pregnancy-specific beta-1-glycoprotein 8 426 47772 8.94 0 Secreted NA NA NA Belongs to the immunoglobulin superfamily. CEA family. Cell surface interactions at the vascular wall PE1 19 +NX_Q9UQ80 Proliferation-associated protein 2G4 394 43787 6.13 0 Cytoplasm;Cytosol;Nucleolus NA Suppresses apoptosis whereas isoform 2 promotes cell differentiation (By similarity).;May play a role in a ERBB3-regulated signal transduction pathway. Seems be involved in growth regulation. Acts a corepressor of the androgen receptor (AR) and is regulated by the ERBB3 ligand neuregulin-1/heregulin (HRG). Inhibits transcription of some E2F1-regulated promoters, probably by recruiting histone acetylase (HAT) activity. Binds RNA. Associates with 28S, 18S and 5.8S mature rRNAs, several rRNA precursors and probably U3 small nucleolar RNA. May be involved in regulation of intermediate and late steps of rRNA processing. May be involved in ribosome assembly. Mediates cap-independent translation of specific viral IRESs (internal ribosomal entry site) (By similarity). Regulates cell proliferation, differentiation, and survival. Phosphorylated on serine and threonine residues. Phosphorylation is enhanced by HRG treatment. Basal phosphorylation is PKC-dependent and HRG-induced phosphorylation is predominantly PKC-independent. Phosphorylation at Ser-361 by PKC/PRKCD regulates its nucleolar localization.;In cancer cells, isoform 2 is polyubiquitinated leading to its proteasomal degradation and phosphorylation by PKC/PRKCD enhances polyubiquitination. Belongs to the peptidase M24 family. Neutrophil degranulation PE1 12 +NX_Q9UQ84 Exonuclease 1 846 94103 8.59 0 Nucleoplasm;Nucleus NA 5'->3' double-stranded DNA exonuclease which may also possess a cryptic 3'->5' double-stranded DNA exonuclease activity. Functions in DNA mismatch repair (MMR) to excise mismatch-containing DNA tracts directed by strand breaks located either 5' or 3' to the mismatch. Also exhibits endonuclease activity against 5'-overhanging flap structures similar to those generated by displacement synthesis when DNA polymerase encounters the 5'-end of a downstream Okazaki fragment. Required for somatic hypermutation (SHM) and class switch recombination (CSR) of immunoglobulin genes. Essential for male and female meiosis. Phosphorylated upon DNA damage and in response to agents stalling DNA replication, probably by ATM or ATR. Phosphorylation at Ser-454, Thr-621 and Ser-714 is induced upon DNA-damage caused by treatment with hydroxyurea (HU) but not upon IR treatment. The HU-induced EXO1 triple phosphorylation facilitates destabilisation/degradation of the protein. Belongs to the XPG/RAD2 endonuclease family. EXO1 subfamily. Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha);G2/M DNA damage checkpoint;Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta);HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HRR);Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-loop Structures through Holliday Junction Intermediates;Homologous DNA Pairing and Strand Exchange;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Regulation of TP53 Activity through Phosphorylation PE1 1 +NX_Q9UQ88 Cyclin-dependent kinase 11A 783 91362 5.28 0 Cytoplasm;Nucleus NA Appears to play multiple roles in cell cycle progression, cytokinesis and apoptosis. The p110 isoforms have been suggested to be involved in pre-mRNA splicing, potentially by phosphorylating the splicing protein SFRS7. The p58 isoform may act as a negative regulator of normal cell cycle progression. During apoptosis, induced by Fas or tumor necrosis factor, specific CKD11 p110 isoforms are cleaved by caspases to produce a protein (p110C) that contains the C-terminal kinase domain of the CDK11 proteins. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. Recruitment of mitotic centrosome proteins and complexes PE1 1 +NX_Q9UQ90 Paraplegin 795 88235 8.79 2 Mitochondrion inner membrane Spastic paraplegia 7, autosomal recessive ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function (PubMed:26387735). Upon import into the mitochondrion, the N-terminal transit peptide is cleaved by the mitochondrial-processing peptidase (MPP) to generate an intermediate form which undergoes a second proteolytic cleavage mediated by proteases AFG3L1 and/or AFG3L2 removing an additional N-terminal fragment to generate the proteolytically active mature form. In the N-terminal section; belongs to the AAA ATPase family.;In the C-terminal section; belongs to the peptidase M41 family. Processing of SMDT1 PE1 16 +NX_Q9UQB3 Catenin delta-2 1225 132656 7.78 0 Golgi apparatus;Perikaryon;Cell junction;Adherens junction;Nucleoplasm;Dendrite;Nucleus NA Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses (PubMed:25807484). Involved in the regulation of Wnt signaling (PubMed:25807484). It probably acts on beta-catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation (By similarity). Functions as a transcriptional activator when bound to ZBTB33 (By similarity). May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules. Phosphorylated by CDK5 (By similarity). Phosphorylated by GSK3B (PubMed:19706605).;O-glycosylated.;CTNND2 is phosphorylated by MAPK8 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the beta-catenin family. NA PE1 5 +NX_Q9UQB8 Brain-specific angiogenesis inhibitor 1-associated protein 2 552 60868 8.99 0 Cytoplasm;Cell membrane;Membrane;Filopodium;Ruffle;Cytosol;Cytoskeleton NA Adapter protein that links membrane-bound small G-proteins to cytoplasmic effector proteins. Necessary for CDC42-mediated reorganization of the actin cytoskeleton and for RAC1-mediated membrane ruffling. Involved in the regulation of the actin cytoskeleton by WASF family members and the Arp2/3 complex. Plays a role in neurite growth. Acts syngeristically with ENAH to promote filipodia formation. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. Participates in actin bundling when associated with EPS8, promoting filopodial protrusions. Phosphorylated on tyrosine residues by INSR in response to insulin treatment. NA Adherens junction;Regulation of actin cytoskeleton;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;VEGFA-VEGFR2 Pathway PE1 17 +NX_Q9UQB9 Aurora kinase C 309 35591 8.96 0 Centromere;Spindle;Nucleus;Chromosome Spermatogenic failure 5 Serine/threonine-protein kinase component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Plays also a role in meiosis and more particularly in spermatogenesis. Has redundant cellular functions with AURKB and can rescue an AURKB knockdown. Like AURKB, AURKC phosphorylates histone H3 at 'Ser-10' and 'Ser-28'. AURKC phosphorylates the CPC complex subunits BIRC5/survivin and INCENP leading to increased AURKC activity. Phosphorylates TACC1, another protein involved in cell division, at 'Ser-228'. NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Aurora subfamily. NA PE1 19 +NX_Q9UQC2 GRB2-associated-binding protein 2 676 74458 8.54 0 Cytoplasm;Cell membrane NA Adapter protein which acts downstream of several membrane receptors including cytokine, antigen, hormone, cell matrix and growth factor receptors to regulate multiple signaling pathways. Regulates osteoclast differentiation mediating the TNFRSF11A/RANK signaling. In allergic response, it plays a role in mast cells activation and degranulation through PI-3-kinase regulation. Also involved in the regulation of cell proliferation and hematopoiesis. Dephosphorylated by PTPN11.;Phosphorylated on tyrosine residue(s) by the thrombopoietin receptor (TPOR), stem cell factor receptor (SCFR), and T-cell and B-cell antigen receptors, gp130, IL-2R and IL-3R (By similarity). Phosphorylated upon stimulation of TNFRSF11A/RANK by TNFSF11/RANKL (By similarity). Phosphorylated upon EGF stimulation. Phosphorylated on tyrosine residues by HCK upon IL6 signaling.;GAB2 is phosphorylated by HCK;GAB2 is phosphorylated by SYK Belongs to the GAB family. Osteoclast differentiation;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Chronic myeloid leukemia;PI3K Cascade;Role of LAT2/NTAL/LAB on calcium mobilization;Interleukin receptor SHC signaling;Signaling by SCF-KIT;Signaling by cytosolic FGFR1 fusion mutants;RET signaling;Interleukin-15 signaling;FLT3 Signaling;STAT5 Activation PE1 11 +NX_Q9UQC9 Calcium-activated chloride channel regulator 2 943 103941 6.56 1 Basal cell membrane;Cell membrane;Cell junction;Secreted;Nucleoplasm NA Plays a role in modulating chloride current across the plasma membrane in a calcium-dependent manner, and cell adhesion. Involved in basal cell adhesion and/or stratification of squamous epithelia. May act as a tumor suppressor in breast and colorectal cancer. Plays a key role for cell adhesion in the beginning stages of lung metastasis via the binding to ITGB4. N-glycosylated.;The 141 kDa mature form is autoproteolytically cleaved by the metalloprotease domain, producing a 109 kDa form and a 35 kDa form. The cleavage is necessary for calcium-activated chloride channel (CaCC) activation activity. Belongs to the CLCR family. Olfactory transduction;Pancreatic secretion;Stimuli-sensing channels PE1 1 +NX_Q9UQD0 Sodium channel protein type 8 subunit alpha 1980 225280 5.95 24 Cytoplasmic vesicle;Cell junction;Axon;Cell membrane Cognitive impairment with or without cerebellar ataxia;Epileptic encephalopathy, early infantile, 13;Seizures, benign familial infantile, 5;Myoclonus, familial, 2 In macrophages and melanoma cells, may participate in the control of podosome and invadopodia formation.;Mediates the voltage-dependent sodium ion permeability of excitable membranes (PubMed:29726066). Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. May be ubiquitinated by NEDD4L; which would promote its endocytosis.;Phosphorylation at Ser-1497 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily. Interaction between L1 and Ankyrins;Phase 0 - rapid depolarisation PE1 12 +NX_Q9UQE7 Structural maintenance of chromosomes protein 3 1217 141542 6.77 0 Nucleoplasm;Centromere;Nucleus;Chromosome Cornelia de Lange syndrome 3 Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in spindle pole assembly during mitosis and in chromosomes movement. Phosphorylated at Ser-1083 in a SPO11-dependent manner.;Acetylation at Lys-105 and Lys-106 by ESCO1 is important for genome stability and S phase sister chromatid cohesion. Regulated by DSCC1, it is required for processive DNA synthesis, coupling sister chromatid cohesion establishment during S phase to DNA replication. Deacetylation by HDAC8, regulates release of the cohesin complex from chromatin. Belongs to the SMC family. SMC3 subfamily. Cell cycle;Oocyte meiosis;Separation of Sister Chromatids;SUMOylation of DNA damage response and repair proteins;Establishment of Sister Chromatid Cohesion;Cohesin Loading onto Chromatin;Resolution of Sister Chromatid Cohesion;Meiotic synapsis;Estrogen-dependent gene expression PE1 10 +NX_Q9UQF0 Syncytin-1 538 59866 8.8 1 Virion;Cell membrane NA Endogenous envelope proteins may have kept, lost or modified their original function during evolution. Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. The surface protein (SU) mediates receptor recognition, while the transmembrane protein (TM) acts as a class I viral fusion protein. The protein may have at least 3 conformational states: pre-fusion native state, pre-hairpin intermediate state, and post-fusion hairpin state. During viral and target cell membrane fusion, the coiled coil regions (heptad repeats) assume a trimer-of-hairpins structure, positioning the fusion peptide in close proximity to the C-terminal region of the ectodomain. The formation of this structure appears to drive apposition and subsequent fusion of membranes.;This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis. May induce fusion through binding of SLC1A4 and SLC1A5 (PubMed:10708449, PubMed:12050356, PubMed:23492904). Specific enzymatic cleavages in vivo yield mature proteins. Envelope glycoproteins are synthesized as an inactive precursor that is heavily N-glycosylated and processed likely by furin in the Golgi to yield the mature SU and TM proteins. The cleavage site between SU and TM requires the minimal sequence [KR]-X-[KR]-R. The intracytoplasmic tail cleavage by the viral protease that is required for the fusiogenic activity of some retroviruses envelope proteins seems to have been lost during evolution.;The CXXC motif is highly conserved across a broad range of retroviral envelope proteins. It is thought to participate in the formation of a labile disulfide bond possibly with the CX6CC motif present in the transmembrane protein. Isomerization of the intersubunit disulfide bond to an SU intrachain disulfide bond is thought to occur upon receptor recognition in order to allow membrane fusion. Belongs to the gamma type-C retroviral envelope protein family. HERV class-I W env subfamily. NA PE1 7 +NX_Q9UQF2 C-Jun-amino-terminal kinase-interacting protein 1 711 77524 4.87 0 Cytoplasm;Endoplasmic reticulum membrane;Cell membrane;Mitochondrion membrane;Perinuclear region;Nucleus Diabetes mellitus, non-insulin-dependent The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Required for JNK activation in response to excitotoxic stress. Cytoplasmic MAPK8IP1 causes inhibition of JNK-regulated activity by retaining JNK in the cytoplasm and inhibiting JNK phosphorylation of c-Jun. May also participate in ApoER2-specific reelin signaling. Directly, or indirectly, regulates GLUT2 gene expression and beta-cell function. Appears to have a role in cell signaling in mature and developing nerve terminals. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins. Functions as an anti-apoptotic protein and whose level seems to influence the beta-cell death or survival response. Acts as a scaffold protein that coordinates with SH3RF1 in organizing different components of the JNK pathway, including RAC1 or RAC2, MAP3K11/MLK3 or MAP3K7/TAK1, MAP2K7/MKK7, MAPK8/JNK1 and/or MAPK9/JNK2 into a functional multiprotein complex to ensure the effective activation of the JNK signaling pathway. Regulates the activation of MAPK8/JNK1 and differentiation of CD8(+) T-cells. Phosphorylated by MAPK8, MAPK9 and MAPK10. Phosphorylation on Thr-103 is also necessary for the dissociation and activation of MAP3K12. Phosphorylated by isoform 1 and isoform 2 of VRK2. Hyperphosphorylated during mitosis following activation of stress-activated and MAP kinases.;Ubiquitinated. Two preliminary events are required to prime for ubiquitination; phosphorylation and an increased in intracellular calcium concentration. Then, the calcium influx initiates ubiquitination and degradation by the ubiquitin-proteasome pathway.;MAPK8IP1 is phosphorylated by MAPK9 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the JIP scaffold family. MAPK signaling pathway PE1 11 +NX_Q9UQG0 Endogenous retrovirus group K member 11 Pol protein 969 109665 9.15 0 NA NA Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution (By similarity). NA Belongs to the beta type-B retroviral polymerase family. HERV class-II K(HML-2) pol subfamily. NA PE2 3 +NX_Q9UQK1 Protein phosphatase 1 regulatory subunit 3C 317 36445 7.15 0 NA NA Acts as a glycogen-targeting subunit for PP1 and regulates its activity. Activates glycogen synthase, reduces glycogen phosphorylase activity and limits glycogen breakdown. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in a variety of cell types. Ubiquitinated by NHLRC1/malin in a EPM2A/laforin-dependent manner. NA Insulin signaling pathway;Glycogen synthesis;Myoclonic epilepsy of Lafora PE1 10 +NX_Q9UQL6 Histone deacetylase 5 1122 121978 5.83 0 Golgi apparatus;Cytoplasm;Nucleus speckle;Cytosol;Nucleus NA Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression of myocyte enhancer factors. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. Serves as a corepressor of RARA and causes its deacetylation (PubMed:28167758). In association with RARA, plays a role in the repression of microRNA-10a and thereby in the inflammatory response (PubMed:28167758). Ubiquitinated. Polyubiquitination however does not lead to its degradation.;Phosphorylated by AMPK, CaMK1, SIK1 and PRKD1 at Ser-259 and Ser-498. The phosphorylation is required for the export to the cytoplasm and inhibition. Phosphorylated by the PKC kinases PKN1 and PKN2, impairing nuclear import. Phosphorylated by GRK5, leading to nuclear export of HDAC5 and allowing MEF2-mediated transcription (By similarity).;HDAC5 is phosphorylated by GRK5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the histone deacetylase family. HD type 2 subfamily. Notch-HLH transcription pathway;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Regulation of PTEN gene transcription PE1 17 +NX_Q9UQM7 Calcium/calmodulin-dependent protein kinase type II subunit alpha 478 54088 6.61 0 Dendritic spine;Dendrite;Postsynaptic density;Synapse Mental retardation, autosomal recessive 63;Mental retardation, autosomal dominant 53 Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in synaptic plasticity, neurotransmitter release and long-term potentiation. Member of the NMDAR signaling complex in excitatory synapses, it regulates NMDAR-dependent potentiation of the AMPAR and therefore excitatory synaptic transmission (By similarity). Regulates dendritic spine development (PubMed:28130356). Also regulates the migration of developing neurons (PubMed:29100089). Phosphorylates the transcription factor FOXO3 to activate its transcriptional activity (PubMed:23805378). Autophosphorylation of Thr-286 following activation by Ca(2+)/calmodulin. Phosphorylation of Thr-286 locks the kinase into an activated state. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. ErbB signaling pathway;Calcium signaling pathway;Oocyte meiosis;Wnt signaling pathway;Long-term potentiation;Neurotrophin signaling pathway;Cholinergic synapse;Dopaminergic synapse;Olfactory transduction;GnRH signaling pathway;Melanogenesis;Gastric acid secretion;Tuberculosis;Glioma;RAF/MAP kinase cascade;Ion transport by P-type ATPases;Interferon gamma signaling;Unblocking of NMDA receptors, glutamate binding and activation;Ras activation upon Ca2+ influx through NMDA receptor;HSF1-dependent transactivation;RAF activation;Ca2+ pathway;Trafficking of AMPA receptors;CaMK IV-mediated phosphorylation of CREB;Phase 0 - rapid depolarisation;Ion homeostasis;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;Regulation of MECP2 expression and activity;Assembly and cell surface presentation of NMDA receptors;Negative regulation of NMDA receptor-mediated neuronal transmission;Long-term potentiation PE1 5 +NX_Q9UQN3 Charged multivesicular body protein 2b 213 23907 8.81 0 Cytoplasm;Cytosol;Nucleus;Late endosome membrane Amyotrophic lateral sclerosis 17;Frontotemporal dementia, chromosome 3-linked Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. NA Belongs to the SNF7 family. Endocytosis;Macroautophagy;Budding and maturation of HIV virion;Endosomal Sorting Complex Required For Transport (ESCRT);Microautophagy PE1 3 +NX_Q9UQP3 Tenascin-N 1299 144034 5.41 0 Extracellular matrix NA Extracellular matrix protein that seems to be a ligand for ITGA8:ITGB1, ITGAV:ITGB1 and ITGA4:ITGB1 (By similarity) (PubMed:17909022). Involved in neurite outgrowth and cell migration in hippocampal explants (By similarity). During endochondral bone formation, inhibits proliferation and differentiation of proteoblasts mediated by canonical WNT signaling (By similarity). In tumors, stimulates angiogenesis by elongation, migration and sprouting of endothelial cells (PubMed:19884327). Expressed in most mammary tumors, may facilitate tumorigenesis by supporting the migratory behavior of breast cancer cells (PubMed:17909022). NA Belongs to the tenascin family. Focal adhesion;ECM-receptor interaction;ECM proteoglycans PE1 1 +NX_Q9UQQ1 Aminopeptidase NAALADL1 740 80558 5.2 1 Apical cell membrane;Cytosol NA Aminopeptidase with broad substrate specificity. Has lower activity with substrates that have Asp or Glu in the P2' position, or Pro in the P3' position. Lacks activity with substrates that have both Pro in the P3' position and Asp or Glu in the P2' position (PubMed:25752612). Lacks carboxypeptidase activity. Lacks dipeptidyl-peptidase IV type activity (PubMed:25752612). N-glycosylated. Belongs to the peptidase M28 family. M28B subfamily. NA PE1 11 +NX_Q9UQQ2 SH2B adapter protein 3 575 63225 6.75 0 Nucleoplasm Diabetes mellitus, insulin-dependent;Celiac disease 13 Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase. Tyrosine phosphorylated by LCK. Belongs to the SH2B adapter family. Neurotrophin signaling pathway;Factors involved in megakaryocyte development and platelet production;Regulation of KIT signaling PE1 12 +NX_Q9UQR0 Sex comb on midleg-like protein 2 700 77257 8.79 0 Nucleus;Cytosol;Nucleolus NA Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development (By similarity). NA Belongs to the SCM family. NA PE1 X +NX_Q9UQR1 Zinc finger protein 148 794 88976 6.03 0 Golgi apparatus;Nucleoplasm;Nucleus Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies Involved in transcriptional regulation. Represses the transcription of a number of genes including gastrin, stromelysin and enolase. Binds to the G-rich box in the enhancer region of these genes. Sumoylated with SUMO2. Desumoylated by SENP3, resulting in the stimulation of transcription of its target genes (By similarity). Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 3 +NX_Q9UQV4 Lysosome-associated membrane glycoprotein 3 416 44346 8.64 1 Cytoplasmic vesicle membrane;Lysosome membrane;Cytoplasmic vesicle NA May play a role in dendritic cell function and in adaptive immunity. NA Belongs to the LAMP family. Lysosome PE1 3 +NX_Q9WJR5 Endogenous retrovirus group K member 19 Pol protein 959 108106 8.99 0 NA NA Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution. NA Belongs to the beta type-B retroviral polymerase family. HERV class-II K(HML-2) pol subfamily. NA PE2 19 +NX_Q9XRX5 HERV-H LTR-associating protein 3 114 12913 9.14 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle NA NA NA NA NA PE1 1 +NX_Q9Y210 Short transient receptor potential channel 6 931 106326 6.24 6 Cell membrane Focal segmental glomerulosclerosis 2 Thought to form a receptor-activated non-selective calcium permeant cation channel (PubMed:19936226, PubMed:23291369). Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C (PubMed:26892346). Seems not to be activated by intracellular calcium store depletion. Phosphorylated by FYN, leading to an increase of TRPC6 channel activity.;TRPC6 is phosphorylated by FYN (Phosphotyrosine:PTM-0255) Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC6 sub-subfamily. TRP channels;Effects of PIP2 hydrolysis;Role of second messengers in netrin-1 signaling;Elevation of cytosolic Ca2+ levels PE1 11 +NX_Q9Y215 Acetylcholinesterase collagenic tail peptide 455 47766 8.42 0 Cell junction;Synapse;Cell membrane Myasthenic syndrome, congenital, 5 Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina. The triple-helical tail is stabilized by disulfide bonds at each end. Belongs to the COLQ family. NA PE1 3 +NX_Q9Y216 Myotubularin-related protein 7 660 75833 5.94 0 Nucleoplasm;Cytosol;Cytoplasm;Endomembrane system NA Phosphatase that specifically dephosphorylates phosphatidylinositol 3-phosphate (PtdIns(3)P) and inositol 1,3-bisphosphate (Ins(1,3)P2). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Fructose and mannose metabolism;Synthesis of PIPs at the late endosome membrane;Synthesis of IP2, IP, and Ins in the cytosol PE1 8 +NX_Q9Y217 Myotubularin-related protein 6 621 71968 7.59 0 Cytoplasm;Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum;Ruffle membrane;Perinuclear region NA Phosphatase that acts on lipids with a phosphoinositol headgroup (PubMed:19038970, PubMed:22647598). Dephosphorylates phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 3,5-bisphosphate (PubMed:19038970, PubMed:22647598) (Probable). Binds with high affinity to phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) but also to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4-phosphate (PtdIns(4)P), and phosphatidylinositol 5-phosphate (PtdIns(5)P), phosphatidic acid and phosphatidylserine (PubMed:19038970). Negatively regulates ER-Golgi protein transport (By similarity). Probably in association with MTMR9, plays a role in the late stages of macropinocytosis by dephosphorylating phosphatidylinositol 3-phosphate in membrane ruffles (PubMed:24591580). Acts as a negative regulator of KCNN4/KCa3.1 channel activity in CD4(+) T-cells possibly by decreasing intracellular levels of phosphatidylinositol 3-phosphate (PubMed:15831468). Negatively regulates proliferation of reactivated CD4(+) T-cells (PubMed:16847315). In complex with MTMR9, negatively regulates DNA damage-induced apoptosis (PubMed:19038970, PubMed:22647598). The formation of the MTMR6-MTMR9 complex stabilizes both MTMR6 and MTMR9 protein levels (PubMed:19038970). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Fructose and mannose metabolism;Synthesis of PIPs at the plasma membrane PE1 13 +NX_Q9Y219 Protein jagged-2 1238 133367 5.53 1 Membrane;Cytoplasmic vesicle;Cytosol NA Putative Notch ligand involved in the mediation of Notch signaling. Involved in limb development (By similarity). NA NA Notch signaling pathway;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Activated NOTCH1 Transmits Signal to the Nucleus;Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant;Constitutive Signaling by NOTCH1 HD Domain Mutants;NOTCH2 Activation and Transmission of Signal to the Nucleus;NOTCH3 Activation and Transmission of Signal to the Nucleus PE1 14 +NX_Q9Y221 60S ribosome subunit biogenesis protein NIP7 homolog 180 20463 8.66 0 Nucleoplasm;Nucleolus NA Required for proper 34S pre-rRNA processing and 60S ribosome subunit assembly. NA Belongs to the NIP7 family. Major pathway of rRNA processing in the nucleolus and cytosol PE1 16 +NX_Q9Y222 Cyclin-D-binding Myb-like transcription factor 1 760 84471 4.5 0 Nucleoplasm;Nucleus NA Transcriptional activator which activates the CDKN2A/ARF locus in response to Ras-Raf signaling, thereby promoting p53/TP53-dependent growth arrest (By similarity). Binds to the consensus sequence 5'-CCCG[GT]ATGT-3' (By similarity).;May antagonize transcriptional activation by isoform 1.;May cooperate with MYB to activate transcription of the ANPEP gene. Phosphorylated by the cyclin-D2/CDK4, cyclin-D3/CDK4 and cyclin-D2/CDK6 complexes and to a lesser extent by the cyclin-D1/CDK4 complex. Belongs to the DMTF1 family. NA PE1 7 +NX_Q9Y223 Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase 722 79275 6.32 0 Cytoplasm;Cytosol Sialuria;Nonaka myopathy Regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells. Phosphorylated by PKC. In the N-terminal section; belongs to the UDP-N-acetylglucosamine 2-epimerase family.;In the C-terminal section; belongs to the ROK (NagC/XylR) family. Amino-sugar metabolism; N-acetylneuraminate biosynthesis.;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Sialic acid metabolism;Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2 PE1 9 +NX_Q9Y224 RNA transcription, translation and transport factor protein 244 28068 6.19 0 Cytoplasm;Nucleoplasm;Centrosome;Cytosol;Perinuclear region;Nucleus NA RNA-binding protein involved in modulation of mRNA transcription by Polymerase II (PubMed:16950395). Component of the tRNA-splicing ligase complex and is required for tRNA ligation (PubMed:24870230). May be required for RNA transport (PubMed:24608264).;(Microbial infection) In case of infection by influenza virus A (IVA), is involved in viral replication (PubMed:21900157). NA Belongs to the RTRAF family. tRNA processing in the nucleus PE1 14 +NX_Q9Y225 RING finger protein 24 148 17210 8.88 1 Golgi apparatus;Golgi apparatus membrane NA May play a role in TRPCs intracellular trafficking. NA NA NA PE1 20 +NX_Q9Y226 Solute carrier family 22 member 13 551 60862 7.98 12 Membrane NA NA NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. Nicotinamide salvaging PE1 3 +NX_Q9Y227 Ectonucleoside triphosphate diphosphohydrolase 4 616 70255 8.55 2 Autophagosome membrane;Cytoplasmic vesicle;Golgi apparatus membrane NA Hydrolyzes preferentially nucleoside 5'-diphosphates, nucleoside 5'-triphosphates are hydrolyzed only to a minor extent. The order of activity with different substrates is UDP >> GDP = CDP = TDP, AMP, ADP, ATP and UMP are not substrates. Preferred substrates for isoform 2 are CTP, UDP, CDP, GTP and GDP, while isoform 1 utilizes UTP and TTP. NA Belongs to the GDA1/CD39 NTPase family. Purine metabolism;Pyrimidine metabolism;Lysosome;Phosphate bond hydrolysis by NTPDase proteins PE1 8 +NX_Q9Y228 TRAF3-interacting JNK-activating modulator 551 63626 8.79 1 Membrane;Cytoplasmic vesicle NA May function as an adapter molecule that regulates TRAF3-mediated JNK activation. NA NA NA PE1 1 +NX_Q9Y230 RuvB-like 2 463 51157 5.49 0 Cytoplasm;Nucleus matrix;Membrane;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (5' to 3') activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring-like structure contribute to the ATPase activity (PubMed:10428817, PubMed:17157868). Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A (PubMed:14966270). This modification may both alter nucleosome -DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription (PubMed:14966270). This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair (PubMed:14966270). The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400 (PubMed:14966270). NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage (PubMed:14966270). Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome (PubMed:24463511). Proposed core component of the chromatin remodeling INO80 complex which exhibits DNA- and nucleosome-activated ATPase activity and catalyzes ATP-dependent nucleosome sliding (PubMed:16230350, PubMed:21303910). Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex (PubMed:10882073, PubMed:16014379). May also inhibit the transcriptional activity of ATF2 (PubMed:11713276). Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway where it negatively regulates expression of ER stress response genes (PubMed:25652260). May play a role in regulating the composition of the U5 snRNP complex (PubMed:28561026). NA Belongs to the RuvB family. HATs acetylate histones;Telomere Extension By Telomerase PE1 19 +NX_Q9Y231 Alpha-(1,3)-fucosyltransferase 9 359 42071 7.6 1 Golgi stack membrane;Nucleoplasm;Cytosol;Cytoskeleton NA Transfers a fucose to lacto-N-neotetraose but not to either alpha2,3-sialyl lacto-N-neotetraose or lacto-N-tetraose. Can catalyze the last step in the biosynthesis of Lewis antigen, the addition of a fucose to precursor polysaccharides. NA Belongs to the glycosyltransferase 10 family. Protein modification; protein glycosylation.;Other types of O-glycan biosynthesis;Glycosphingolipid biosynthesis - lacto and neolacto series;Glycosphingolipid biosynthesis - globo series;Metabolic pathways;Lewis blood group biosynthesis PE1 6 +NX_Q9Y232 Chromodomain Y-like protein 598 66482 9.5 0 Nucleus speckle;Nucleus;Chromosome NA Not able to recognize and bind histone H3K9me3, histone H3K27me2 and histone H3K27me3, due to the presence of a N-terminal extension that inactivates the chromo domain (PubMed:19808672).;Chromatin reader protein that recognizes and binds histone H3 trimethylated at 'Lys-9', dimethylated at 'Lys-27' and trimethylated at 'Lys-27' (H3K9me3, H3K27me2 and H3K27me3, respectively) (PubMed:19808672, PubMed:28402439). Part of multimeric repressive chromatin complexes, where it is required for transmission and restoration of repressive histone marks, thereby preserving the epigenetic landscape (PubMed:28402439). Required for chromatin targeting and maximal enzymatic activity of Polycomb repressive complex 2 (PRC2); acts as a positive regulator of PRC2 activity by bridging the pre-existing histone H3K27me3 and newly recruited PRC2 on neighboring nucleosomes (PubMed:22009739). Acts as a corepressor for REST by facilitating histone-lysine N-methyltransferase EHMT2 recruitment and H3K9 dimethylation at REST target genes for repression (PubMed:19061646). Involved in X chromosome inactivation in females: recruited to Xist RNA-coated X chromosome and facilitates propagation of H3K9me2 by anchoring EHMT2 (By similarity). Promotes EZH2 accumulation and H3K27me3 methylation at DNA double strand breaks (DSBs), thereby facilitating transcriptional repression at sites of DNA damage and homology-directed repair of DSBs (PubMed:29177481). Required for neuronal migration during brain development by repressing expression of RHOA (By similarity). By repressing the expression of SCN8A, contributes to the inhibition of intrinsic neuronal excitability and epileptogenesis (By similarity). In addition to acting as a chromatin reader, acts as a hydro-lyase (PubMed:28803779). Shows crotonyl-coA hydratase activity by mediating the conversion of crotonyl-CoA ((2E)-butenoyl-CoA) to beta-hydroxybutyryl-CoA (3-hydroxybutanoyl-CoA), thereby acting as a negative regulator of histone crotonylation (PubMed:28803779). Histone crotonylation is required during spermatogenesis; down-regulation of histone crotonylation by CDYL regulates the reactivation of sex chromosome-linked genes in round spermatids and histone replacement in elongating spermatids (By similarity). By regulating histone crotonylation and trimethylation of H3K27, may be involved in stress-induced depression-like behaviors, possibly by regulating VGF expression (By similarity).;Not able to recognize and bind histone H3K9me3, histone H3K27me2 and histone H3K27me3, due to the absence of the chromo domain (PubMed:19808672). Acts as a negative regulator of isoform 2 by displacing isoform 2 from chromatin. NA NA NA PE1 6 +NX_Q9Y233 cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A 779 88412 6.15 0 Cytoplasm Dyskinesia, limb and orofacial, infantile-onset;Striatal degeneration, autosomal dominant 2 Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. Can hydrolyze both cAMP and cGMP, but has higher affinity for cAMP and is more efficient with cAMP as substrate. May play a critical role in regulating cAMP and cGMP levels in the striatum, a region of the brain that contributes to the control of movement and cognition. Phosphorylated on Thr-16. Belongs to the cyclic nucleotide phosphodiesterase family. Purine metabolism; 3',5'-cyclic GMP degradation; GMP from 3',5'-cyclic GMP: step 1/1.;Purine metabolism; 3',5'-cyclic AMP degradation; AMP from 3',5'-cyclic AMP: step 1/1.;Purine metabolism;G alpha (s) signalling events;cGMP effects PE1 6 +NX_Q9Y234 Lipoyltransferase 1, mitochondrial 373 42479 8.66 0 Mitochondrion Lipoyltransferase 1 deficiency Catalyzes the transfer of the lipoyl group from lipoyl-AMP to the specific lysine residue of lipoyl domains of lipoate-dependent enzymes. NA Belongs to the LplA family. Protein modification; protein lipoylation via exogenous pathway; protein N(6)-(lipoyl)lysine from lipoate: step 2/2.;Lipoic acid metabolism;Metabolic pathways;Glyoxylate metabolism and glycine degradation PE1 2 +NX_Q9Y235 C->U-editing enzyme APOBEC-2 224 25703 4.81 0 NA NA Probable C to U editing enzyme whose physiological substrate is not yet known. Does not display detectable apoB mRNA editing. Has a low intrinsic cytidine deaminase activity. May play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation. NA Belongs to the cytidine and deoxycytidylate deaminase family. mRNA Editing: C to U Conversion;Formation of the Editosome PE1 6 +NX_Q9Y236 Oxidative stress-induced growth inhibitor 2 505 56672 7.05 0 Nucleolus NA May be involved in meiosis or the maturation of germ cells. NA Belongs to the OKL38 family. NA PE1 8 +NX_Q9Y237 Peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 131 13810 9.78 0 Cytoplasm;Mitochondrion;Mitochondrion matrix;Nucleolus;Nucleoplasm;Spindle NA Binds to double-stranded DNA.;Is involved as a ribosomal RNA processing factor in ribosome biogenesis. Binds to tightly bent AT-rich stretches of double-stranded DNA. Phosphorylated.;Phosphorylation occurs both in the nucleus and the cytoplasm.;Phosphorylation at Ser-19 does not affect its PPIase activity but is required for nuclear localization, and the dephosphorylation is a prerequisite for the binding to DNA. The unphosphorylated isoform 1 associates with the pre-rRNP complexes in the nucleus.;Is sumoylated with SUMO2 and SUMO3. Belongs to the PpiC/parvulin rotamase family. PIN4 subfamily. NA PE1 X +NX_Q9Y238 Deleted in lung and esophageal cancer protein 1 1755 195684 5.92 0 Cytoplasm;Cytosol Esophageal cancer;Lung cancer May act as a tumor suppressor by inhibiting cell proliferation. NA NA NA PE1 3 +NX_Q9Y239 Nucleotide-binding oligomerization domain-containing protein 1 953 107691 6.71 0 Cytoplasm;Mitochondrion;Cell membrane;Basolateral cell membrane;Apical cell membrane NA Enhances caspase-9-mediated apoptosis. Induces NF-kappa-B activity via RIPK2 and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS). Forms an intracellular sensing system along with ARHGEF2 for the detection of microbial effectors during cell invasion by pathogens. Required for RHOA and RIPK2 dependent NF-kappa-B signaling pathway activation upon S.flexneri cell invasion. Involved not only in sensing peptidoglycan (PGN)-derived muropeptides but also in the activation of NF-kappa-B by Shigella effector proteins IpgB2 and OspB. Recruits NLRP10 to the cell membrane following bacterial infection. Ubiquitinated. 'Lys-48'-linked polyubiquitination by RNF34 promotes proteasomal degradation and thereby negatively regulates NOD1 for instance in NF-kappa-B activition. NA NOD-like receptor signaling pathway;Epithelial cell signaling in Helicobacter pylori infection;Shigellosis;Pertussis;NOD1/2 Signaling Pathway;activated TAK1 mediates p38 MAPK activation;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;Ovarian tumor domain proteases;Interleukin-1 signaling PE1 7 +NX_Q9Y240 C-type lectin domain family 11 member A 323 35695 5.06 0 Cytoplasm;Centrosome;Secreted NA Promotes osteogenesis by stimulating the differentiation of mesenchymal progenitors into mature osteoblasts (PubMed:27976999). Important for repair and maintenance of adult bone (By similarity). O-glycosylated. Probably sulfated on the O-glycans. NA NA PE1 19 +NX_Q9Y241 HIG1 domain family member 1A, mitochondrial 93 10143 9.79 2 Mitochondrion membrane;Nucleoplasm;Mitochondrion inner membrane;Mitochondrion NA Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May play a role in the assembly of respiratory supercomplexes. NA NA Regulation of gene expression by Hypoxia-inducible Factor PE1 3 +NX_Q9Y242 Transcription factor 19 345 37184 8.71 0 Nucleus NA Potential trans-activating factor that could play an important role in the transcription of genes required for the later stages of cell cycle progression. NA NA NA PE1 6 +NX_Q9Y243 RAC-gamma serine/threonine-protein kinase 479 55775 5.72 0 Membrane;Cytoplasm;Cytosol;Nucleus Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 AKT3 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT3 is the least studied AKT isoform. It plays an important role in brain development and is crucial for the viability of malignant glioma cells. AKT3 isoform may also be the key molecule in up-regulation and down-regulation of MMP13 via IL13. Required for the coordination of mitochondrial biogenesis with growth factor-induced increases in cellular energy demands. Down-regulation by RNA interference reduces the expression of the phosphorylated form of BAD, resulting in the induction of caspase-dependent apoptosis. Ubiquitinated. When fully phosphorylated and translocated into the nucleus, undergoes 'Lys-48'-polyubiquitination catalyzed by TTC3, leading to its degradation by the proteasome.;Phosphorylation on Thr-305 and Ser-472 is required for full activity.;O-GlcNAcylation at Thr-302 and Thr-309 inhibits activating phosphorylation at Thr-305 via disrupting the interaction between AKT and PDK1. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. RAC subfamily. MAPK signaling pathway;ErbB signaling pathway;Chemokine signaling pathway;mTOR signaling pathway;Apoptosis;VEGF signaling pathway;Osteoclast differentiation;Focal adhesion;Tight junction;Toll-like receptor signaling pathway;Jak-STAT signaling pathway;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Fc gamma R-mediated phagocytosis;Neurotrophin signaling pathway;Cholinergic synapse;Dopaminergic synapse;Insulin signaling pathway;Progesterone-mediated oocyte maturation;Adipocytokine signaling pathway;Carbohydrate digestion and absorption;Chagas disease (American trypanosomiasis);Toxoplasmosis;Tuberculosis;Hepatitis C;Measles;Influenza A;HTLV-I infection;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Melanoma;Chronic myeloid leukemia;Acute myeloid leukemia;Small cell lung cancer;Non-small cell lung cancer;PIP3 activates AKT signaling;G beta:gamma signalling through PI3Kgamma;VEGFR2 mediated vascular permeability;CD28 dependent PI3K/Akt signaling;Cyclin E associated events during G1/S transition;TP53 Regulates Metabolic Genes;Activation of BAD and translocation to mitochondria;Cyclin A:Cdk2-associated events at S phase entry;AKT phosphorylates targets in the nucleus;Constitutive Signaling by AKT1 E17K in Cancer;CTLA4 inhibitory signaling;AKT phosphorylates targets in the cytosol;Downregulation of ERBB2:ERBB3 signaling;Negative regulation of the PI3K/AKT network;AKT-mediated inactivation of FOXO1A;Regulation of TP53 Activity through Acetylation;Regulation of TP53 Degradation;Regulation of TP53 Activity through Association with Co-factors;RAB GEFs exchange GTP for GDP on RABs;Regulation of PTEN stability and activity;RUNX2 regulates genes involved in cell migration;Estrogen-dependent nuclear events downstream of ESR-membrane signaling;Regulation of localization of FOXO transcription factors PE1 1 +NX_Q9Y244 Proteasome maturation protein 141 15789 5.01 0 Microsome membrane;Cytoplasm;Nucleus speckle;Cytosol;Nucleus Proteasome-associated autoinflammatory syndrome 2;Keratosis linearis with ichthyosis congenita and sclerosing keratoderma Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum. NA Belongs to the POMP/UMP1 family. Proteasome PE1 13 +NX_Q9Y247 Protein FAM50B 325 38709 8.9 0 Nucleoplasm;Cytoskeleton NA NA NA Belongs to the FAM50 family. NA PE1 6 +NX_Q9Y248 DNA replication complex GINS protein PSF2 185 21428 5.29 0 Nucleoplasm;Nucleus NA The GINS complex plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex seems to bind preferentially to single-stranded DNA. NA Belongs to the GINS2/PSF2 family. Unwinding of DNA PE1 16 +NX_Q9Y250 Leucine zipper putative tumor suppressor 1 596 66613 6.64 0 Cytoplasm;Dendritic spine;Cell membrane;Nucleolus;Postsynaptic density;Synapse Esophageal cancer Involved in the regulation of cell growth. May stabilize the active CDC2-cyclin B1 complex and thereby contribute to the regulation of the cell cycle and the prevention of uncontrolled cell proliferation. May act as a tumor suppressor. Phosphorylated on serine residues. Hyperphosphorylated by the cAMP-dependent kinase PKA during cell-cycle progression. Belongs to the LZTS family. NA PE1 8 +NX_Q9Y251 Heparanase 543 61149 9.32 0 Lysosome membrane;Secreted;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA Endoglycosidase that cleaves heparan sulfate proteoglycans (HSPGs) into heparan sulfate side chains and core proteoglycans. Participates in extracellular matrix (ECM) degradation and remodeling. Selectively cleaves the linkage between a glucuronic acid unit and an N-sulfo glucosamine unit carrying either a 3-O-sulfo or a 6-O-sulfo group. Can also cleave the linkage between a glucuronic acid unit and an N-sulfo glucosamine unit carrying a 2-O-sulfo group, but not linkages between a glucuronic acid unit and a 2-O-sulfated iduronic acid moiety. It is essentially inactive at neutral pH but becomes active under acidic conditions such as during tumor invasion and in inflammatory processes. Facilitates cell migration associated with metastasis, wound healing and inflammation. Enhances shedding of syndecans, and increases endothelial invasion and angiogenesis in myelomas. Acts as procoagulant by increasing the generation of activation factor X in the presence of tissue factor and activation factor VII. Increases cell adhesion to the extracellular matrix (ECM), independent of its enzymatic activity. Induces AKT1/PKB phosphorylation via lipid rafts increasing cell mobility and invasion. Heparin increases this AKT1/PKB activation. Regulates osteogenesis. Enhances angiogenesis through up-regulation of SRC-mediated activation of VEGF. Implicated in hair follicle inner root sheath differentiation and hair homeostasis. Proteolytically processed. The cleavage of the 65 kDa form leads to the generation of a linker peptide, and 8 kDa and 50 kDa products. The active form, the 8/50 kDa heterodimer, is resistant to degradation. Complete removal of the linker peptide appears to be a prerequisite to the complete activation of the enzyme.;N-glycosylated. Glycosylation of the 50 kDa subunit appears to be essential for its solubility. Belongs to the glycosyl hydrolase 79 family. Glycosaminoglycan degradation;Metabolic pathways;HS-GAG degradation;Neutrophil degranulation PE1 4 +NX_Q9Y252 E3 ubiquitin-protein ligase RNF6 685 78091 9.16 0 Cytoplasm;Nucleus membrane;PML body;Axon;Nucleus Esophageal cancer E3 ubiquitin-protein ligase mediating 'Lys-48'-linked polyubiquitination of LIMK1 and its subsequent targeting to the proteasome for degradation. Negatively regulates axonal outgrowth through regulation of the LIMK1 turnover. Mediates 'Lys-6' and 'Lys-27'-linked polyubiquitination of AR/androgen receptor thereby modulating its transcriptional activity. May also bind DNA and function as a transcriptional regulator. NA Belongs to the RNF12 family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 13 +NX_Q9Y253 DNA polymerase eta 713 78413 8.74 0 Nucleoplasm;Cytosol;Nucleus Xeroderma pigmentosum variant type DNA polymerase specifically involved in the DNA repair by translesion synthesis (TLS) (PubMed:10385124, PubMed:11743006, PubMed:24449906). Due to low processivity on both damaged and normal DNA, cooperates with the heterotetrameric (REV3L, REV7, POLD2 and POLD3) POLZ complex for complete bypass of DNA lesions. Inserts one or 2 nucleotide(s) opposite the lesion, the primer is further extended by the tetrameric POLZ complex. In the case of 1,2-intrastrand d(GpG)-cisplatin cross-link, inserts dCTP opposite the 3' guanine (PubMed:24449906). Particularly important for the repair of UV-induced pyrimidine dimers (PubMed:10385124, PubMed:11743006). Although inserts the correct base, may cause base transitions and transversions depending upon the context. May play a role in hypermutation at immunoglobulin genes (PubMed:11376341, PubMed:14734526). Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have any lyase activity, preventing the release of the 5'-deoxyribose phosphate (5'-dRP) residue. This covalent trapping of the enzyme by the 5'-dRP residue inhibits its DNA synthetic activity during base excision repair, thereby avoiding high incidence of mutagenesis (PubMed:14630940). Targets POLI to replication foci (PubMed:12606586). Monoubiquitinated by RCHY1/PIRH2; ubiquitination inhibits the ability of PolH to interact with PCNA and to bypass UV-induced lesions. Belongs to the DNA polymerase type-Y family. Fanconi anemia pathway;Translesion Synthesis by POLH;Termination of translesion DNA synthesis;HDR through Homologous Recombination (HRR) PE1 6 +NX_Q9Y255 PRELI domain-containing protein 1, mitochondrial 219 25181 9.56 0 Nucleoplasm;Mitochondrion intermembrane space;Mitochondrion NA Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. In vitro, the TRIAP1:PRELID1 complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space to provide PA for CL synthesis in the inner membrane. Regulates the mitochondrial apoptotic pathway in primary Th cells. Regulates Th cell differentiation by down-regulating STAT6 thereby reducing IL-4-induced Th2 cell number. May be important for the development of vital and immunocompetent organs. NA NA TP53 Regulates Transcription of Genes Involved in Cytochrome C Release PE1 5 +NX_Q9Y256 CAAX prenyl protease 2 329 35833 8.33 7 Endoplasmic reticulum membrane NA Proteolytically removes the C-terminal three residues of farnesylated and geranylated proteins. Seems to be able to process K-Ras, N-Ras, H-Ras, RAP1B and G-gamma-1 (PubMed:10085068). Ubiquitinated. Undergoes 'Lys-48'-and 'Lys-63'-linked ubiquitination. 'Lys-48' ubiquitination induces its degradation. Deubiquitinated by USP17L2/USP17 that cleaves 'Lys-63'-linked ubiquitin chains. Belongs to the peptidase U48 family. Ub-specific processing proteases PE1 11 +NX_Q9Y257 Potassium channel subfamily K member 6 313 33747 6.05 4 Membrane;Cytosol;Cytoskeleton;Cell membrane NA Exhibits outward rectification in a physiological K(+) gradient and mild inward rectification in symmetrical K(+) conditions. NA Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK);Phase 4 - resting membrane potential PE1 19 +NX_Q9Y258 C-C motif chemokine 26 94 10648 10.22 0 Secreted NA Chemoattractant for eosinophils and basophils (PubMed:10415065, PubMed:10488147). Acts as a ligand for C-C chemokine receptor CCR3 which triggers Ca(2+) mobilization in eosinophils (PubMed:10415065, PubMed:10488147, PubMed:11425309). NA Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway PE1 7 +NX_Q9Y259 Choline/ethanolamine kinase 395 45271 5.35 0 Cytosol Muscular dystrophy, congenital, megaconial type Has a key role in phospholipid metabolism, and catalyzes the first step of phosphatidylethanolamine and phosphatidylcholine biosynthesis. NA Belongs to the choline/ethanolamine kinase family. Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 1/3.;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PC;Synthesis of PE PE1 22 +NX_Q9Y261 Hepatocyte nuclear factor 3-beta 457 48306 8.82 0 Cytoplasm;Nucleoplasm;Cell junction;Nucleus NA Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3' (By similarity). In embryonic development is required for notochord formation. Involved in the development of multiple endoderm-derived organ systems such as the liver, pancreas and lungs; FOXA1 and FOXA2 seem to have at least in part redundant roles. Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis; regulates the expression of genes important for glucose sensing in pancreatic beta-cells and glucose homeostasis. Involved in regulation of fat metabolism. Binds to fibrinogen beta promoter and is involved in IL6-induced fibrinogen beta transcriptional activation. Phosphorylation on Thr-156 abolishes binding to target promoters and subsequent transcription activation upon insulin stimulation. NA Maturity onset diabetes of the young;Regulation of gene expression in beta cells PE1 20 +NX_Q9Y262 Eukaryotic translation initiation factor 3 subunit L 564 66727 5.93 0 Nucleoplasm;Cytoplasm;Nucleolus NA (Microbial infection) In case of FCV infection, plays a role in the ribosomal termination-reinitiation event leading to the translation of VP2 (PubMed:18056426).;Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). NA Belongs to the eIF-3 subunit L family. L13a-mediated translational silencing of Ceruloplasmin expression;Translation initiation complex formation;Formation of a pool of free 40S subunits;Formation of the ternary complex, and subsequently, the 43S complex;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit PE1 22 +NX_Q9Y263 Phospholipase A-2-activating protein 795 87157 5.96 0 Cytoplasm;Cell membrane;Nucleoplasm;Synapse;Cytosol;Nucleus Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies Plays a role in protein ubiquitination, sorting and degradation through its association with VCP (PubMed:27753622). Involved in ubiquitin-mediated membrane proteins trafficking to late endosomes in an ESCRT-dependent manner, and hence plays a role in synaptic vesicle recycling (By similarity). May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes (PubMed:27753622). Plays a role in cerebellar Purkinje cell development (By similarity). Positively regulates cytosolic and calcium-independent phospholipase A2 activities in a tumor necrosis factor alpha (TNF-alpha)- or lipopolysaccharide (LPS)-dependent manner, and hence prostaglandin E2 biosynthesis (PubMed:18291623, PubMed:28007986). NA Belongs to the WD repeat PLAP family. Protein processing in endoplasmic reticulum PE1 9 +NX_Q9Y264 Angiopoietin-4 503 56849 9.1 0 Secreted NA Binds to TEK/TIE2, modulating ANGPT1 signaling. Can induce tyrosine phosphorylation of TEK/TIE2. Promotes endothelial cell survival, migration and angiogenesis. NA NA Tie2 Signaling PE1 20 +NX_Q9Y265 RuvB-like 1 456 50228 6.02 0 Cytoplasm;Nucleus matrix;Membrane;Nucleoplasm;Centrosome;Cytosol NA Possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (3' to 5') activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring-like structure contribute to the ATPase activity (PubMed:17157868). Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A (PubMed:14966270). This modification may both alter nucleosome-DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription (PubMed:14966270). This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair (PubMed:14966270). The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage (PubMed:14966270). Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome (PubMed:24463511). Proposed core component of the chromatin remodeling INO80 complex which exhibits DNA- and nucleosome-activated ATPase activity and catalyzes ATP-dependent nucleosome sliding (PubMed:16230350, PubMed:21303910). Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex (PubMed:10882073, PubMed:16014379). Essential for cell proliferation (PubMed:14506706). May be able to bind plasminogen at cell surface and enhance plasminogen activation (PubMed:11027681). NA Belongs to the RuvB family. Wnt signaling pathway;HATs acetylate histones;Formation of the beta-catenin:TCF transactivating complex;Deposition of new CENPA-containing nucleosomes at the centromere;Telomere Extension By Telomerase;DNA Damage Recognition in GG-NER;UCH proteinases;Ub-specific processing proteases PE1 3 +NX_Q9Y266 Nuclear migration protein nudC 331 38243 5.27 0 Cytoplasm;Cytosol;Nucleus;Cytoskeleton NA Plays a role in neurogenesis and neuronal migration (By similarity). Necessary for correct formation of mitotic spindles and chromosome separation during mitosis. Necessary for cytokinesis and cell proliferation. Reversibly phosphorylated on serine residues during the M phase of the cell cycle. Phosphorylation on Ser-274 and Ser-326 is necessary for correct formation of mitotic spindles and chromosome separation during mitosis. Phosphorylated by PLK and other kinases. Belongs to the nudC family. Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Mitotic Telophase/Cytokinesis PE1 1 +NX_Q9Y267 Solute carrier family 22 member 14 594 66684 8.71 12 Membrane NA NA NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. NA PE2 3 +NX_Q9Y271 Cysteinyl leukotriene receptor 1 337 38541 9.43 7 Cell membrane NA Receptor for cysteinyl leukotrienes mediating bronchoconstriction of individuals with and without asthma. Stimulation by LTD4 results in the contraction and proliferation of smooth muscle, edema, eosinophil migration and damage to the mucus layer in the lung. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. The rank order of affinities for the leukotrienes is LTD4 >> LTE4 = LTC4 >> LTB4. NA Belongs to the G-protein coupled receptor 1 family. Calcium signaling pathway;Neuroactive ligand-receptor interaction;G alpha (q) signalling events;Leukotriene receptors PE1 X +NX_Q9Y272 Dexamethasone-induced Ras-related protein 1 281 31642 9.15 0 Nucleoplasm;Perinuclear region;Nucleus;Cell membrane NA Small GTPase. Negatively regulates the transcription regulation activity of the APBB1/FE65-APP complex via its interaction with APBB1/FE65 (By similarity). S-nitrosylation stimulates guanine-nucleotide exchange activity. Belongs to the small GTPase superfamily. RasD family. NA PE1 17 +NX_Q9Y274 Type 2 lactosamine alpha-2,3-sialyltransferase 331 38214 9.13 1 Golgi apparatus membrane NA Involved in the synthesis of sialyl-paragloboside, a precursor of sialyl-Lewis X determinant. Has a alpha-2,3-sialyltransferase activity toward Gal-beta1,4-GlcNAc structure on glycoproteins and glycolipids. Has a restricted substrate specificity, it utilizes Gal-beta1,4-GlcNAc on glycoproteins, and neolactotetraosylceramide and neolactohexaosylceramide, but not lactotetraosylceramide, lactosylceramide or asialo-GM1. NA Belongs to the glycosyltransferase 29 family. Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;Sialic acid metabolism;Keratan sulfate biosynthesis;Pre-NOTCH Processing in Golgi;Lewis blood group biosynthesis PE1 3 +NX_Q9Y275 Tumor necrosis factor ligand superfamily member 13B 285 31223 5.92 1 Secreted;Cell membrane NA Seems to inhibit isoform 1 secretion and bioactivity.;Cytokine that binds to TNFRSF13B/TACI and TNFRSF17/BCMA. TNFSF13/APRIL binds to the same 2 receptors. Together, they form a 2 ligands -2 receptors pathway involved in the stimulation of B- and T-cell function and the regulation of humoral immunity. A third B-cell specific BAFF-receptor (BAFFR/BR3) promotes the survival of mature B-cells and the B-cell response.;Acts as a transcription factor for its own parent gene, in association with NF-kappa-B p50 subunit, at least in autoimmune and proliferative B-cell diseases. The presence of Delta4BAFF is essential for soluble BAFF release by IFNG/IFN-gamma-stimulated monocytes and for B-cell survival. It can directly or indirectly regulate the differential expression of a large number of genes involved in the innate immune response and the regulation of apoptosis. Is not efficiently shed from the membrane unlike isoform 1.;N-glycosylated.;The soluble form derives from the membrane form by proteolytic processing. Belongs to the tumor necrosis factor family. Cytokine-cytokine receptor interaction;Intestinal immune network for IgA production;Rheumatoid arthritis;TNFR2 non-canonical NF-kB pathway;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway;TNFs bind their physiological receptors PE1 13 +NX_Q9Y276 Mitochondrial chaperone BCS1 419 47534 8.63 1 Mitochondrion inner membrane Bjoernstad syndrome;Mitochondrial complex III deficiency, nuclear 1;GRACILE syndrome Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex. NA Belongs to the AAA ATPase family. BCS1 subfamily. Mitochondrial protein import PE1 2 +NX_Q9Y277 Voltage-dependent anion-selective channel protein 3 283 30659 8.84 19 Mitochondrion outer membrane;Mitochondrion NA Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules. Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. Belongs to the eukaryotic mitochondrial porin family. Calcium signaling pathway;Parkinson's disease;Huntington's disease;HTLV-I infection;Ub-specific processing proteases;Mitochondrial calcium ion transport PE1 8 +NX_Q9Y278 Heparan sulfate glucosamine 3-O-sulfotransferase 2 367 41501 9.93 1 Golgi apparatus membrane NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in GlcA2S-GlcNS. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate. NA Belongs to the sulfotransferase 1 family. Glycosaminoglycan biosynthesis - heparan sulfate;HS-GAG biosynthesis PE1 16 +NX_Q9Y279 V-set and immunoglobulin domain-containing protein 4 399 43987 5.93 1 Membrane;Cytosol;Nucleolus;Cell membrane NA Phagocytic receptor, strong negative regulator of T-cell proliferation and IL2 production. Potent inhibitor of the alternative complement pathway convertases. NA NA NA PE1 X +NX_Q9Y281 Cofilin-2 166 18737 7.66 0 Cell membrane;Nucleus matrix;Nucleoplasm;Cytosol;Cytoskeleton Nemaline myopathy 7 Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. Its F-actin depolymerization activity is regulated by association with CSPR3 (PubMed:19752190). It has the ability to bind G- and F-actin in a 1:1 ratio of cofilin to actin. It is the major component of intranuclear and cytoplasmic actin rods. Required for muscle maintenance. May play a role during the exchange of alpha-actin forms during the early postnatal remodeling of the sarcomere (By similarity). The phosphorylation of Ser-24 may prevent recognition of the nuclear localization signal. Belongs to the actin-binding proteins ADF family. Axon guidance;Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Pertussis PE1 14 +NX_Q9Y282 Endoplasmic reticulum-Golgi intermediate compartment protein 3 383 43222 5.68 2 Endoplasmic reticulum-Golgi intermediate compartment membrane;Nucleoplasm;cis-Golgi network membrane;Endoplasmic reticulum membrane NA Possible role in transport between endoplasmic reticulum and Golgi. NA Belongs to the ERGIC family. NA PE1 20 +NX_Q9Y283 Inversin 1065 117826 9.43 0 Cytoplasm;Cilium;Membrane;Cytosol;Spindle;Nucleus;Cytoskeleton Nephronophthisis 2 Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling. Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). May be ubiquitinated via its interaction with APC2.;Hydroxylated at Asn-75, most probably by HIF1AN. NA NA PE1 9 +NX_Q9Y284 Protein Asterix 106 12068 8.41 2 Membrane;Endoplasmic reticulum NA NA NA Belongs to the Asterix family. NA PE1 19 +NX_Q9Y285 Phenylalanine--tRNA ligase alpha subunit 508 57564 7.31 0 Cytoplasm;Cytosol NA NA NA Belongs to the class-II aminoacyl-tRNA synthetase family. Phe-tRNA synthetase alpha subunit type 2 subfamily. Aminoacyl-tRNA biosynthesis;Cytosolic tRNA aminoacylation PE1 19 +NX_Q9Y286 Sialic acid-binding Ig-like lectin 7 467 51143 6.89 1 Membrane NA Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- and alpha-2,6-linked sialic acid. Also binds disialogangliosides (disialogalactosyl globoside, disialyl lactotetraosylceramide and disialyl GalNAc lactotetraoslylceramide). The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules. Mediates inhibition of natural killer cells cytotoxicity. May play a role in hemopoiesis. Inhibits differentiation of CD34+ cell precursors towards myelomonocytic cell lineage and proliferation of leukemic myeloid cells (in vitro). Tyrosine phosphorylated. Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell PE1 19 +NX_Q9Y287 Integral membrane protein 2B 266 30338 5 1 Golgi apparatus;Cell membrane;Endosome membrane;Secreted;Golgi apparatus membrane;Cytoplasmic vesicle Cerebral amyloid angiopathy, ITM2B-related 1;Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities;Cerebral amyloid angiopathy, ITM2B-related 2 Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites.;Bri23 peptide prevents aggregation of APP amyloid-beta protein 42 into toxic oligomers.;Mature BRI2 (mBRI2) functions as a modulator of the amyloid-beta A4 precursor protein (APP) processing leading to a strong reduction in the secretion of secretase-processed amyloid-beta protein 40 and amyloid-beta protein 42. Glycosylation at Asn-170 is important for cell surface localization, but doesn't affect furin- and ADAM10-induced proteolytic processing.;The ectodomain C-terminal part of the imBRI2 is processed by furin producing a secreted Bri23 peptide and a mature BRI2, membrane form (mBRI2). The remaining part of the ectodomain of mBRI2 containing the BRICHOS domain is cleaved by ADAM10 and is secreted (BRI2C, soluble form). The membrane-bound N-terminal fragment (BRI2C, membrane form) is further proteolytically processed by SPPL2A and SPPL2B through regulated intramembrane proteolysis producing a secreted C-peptide and a BRI2 intracellular domain (BRI2 ICD) released in the cytosol. Shedding by ADAM10 facilitates intramembrane cleavage but is not absolutely required for BRI2 ICD generation. Belongs to the ITM2 family. Amyloid fiber formation PE1 13 +NX_Q9Y289 Sodium-dependent multivitamin transporter 635 68642 8.61 13 Membrane;Cell junction NA Transports pantothenate, biotin and lipoate in the presence of sodium. NA Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. Vitamin digestion and absorption;Biotin transport and metabolism;Vitamin B5 (pantothenate) metabolism;Transport of vitamins, nucleosides, and related molecules PE1 2 +NX_Q9Y291 28S ribosomal protein S33, mitochondrial 106 12629 10.11 0 Mitochondrion NA NA NA Belongs to the mitochondrion-specific ribosomal protein mS33 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 7 +NX_Q9Y294 Histone chaperone ASF1A 204 22969 4.29 0 Nucleoplasm;Nucleus NA Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly. Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly and with HIRA to promote replication-independent chromatin assembly. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit. Phosphorylated by TLK1 and TLK2. Highly phosphorylated in S-phase and at lower levels in M-phase. TLK2-mediated phosphorylation at Ser-192 prevents proteasome-dependent degradation. Belongs to the ASF1 family. Formation of Senescence-Associated Heterochromatin Foci (SAHF) PE1 6 +NX_Q9Y295 Developmentally-regulated GTP-binding protein 1 367 40542 9 0 Cytoplasm;Cytosol;Nucleus NA Catalyzes the conversion of GTP to GDP through hydrolysis of the gamma-phosphate bond in GTP (PubMed:29915238, PubMed:23711155). Appears to have an intrinsic GTPase activity that is stimulated by ZC3H15/DFRP1 binding likely by increasing the affinity for the potassium ions (PubMed:23711155). When hydroxylated at C-3 of 'Lys-22' by JMJD7, may bind to RNA and play a role in translation (PubMed:19819225, PubMed:29915238). Binds to microtubules and promotes microtubule polymerization and stability that are required for mitotic spindle assembly during prophase to anaphase transition. GTPase activity is not necessary for these microtubule-related functions (PubMed:28855639). Sumoylated by UBE2I in response to MEKK1-mediated stimuli.;Phosphorylated at Thr-100 by STK16.;Hydroxylated (with S stereochemistry) at C-3 of Lys-22 by JMJD7; this modification hinders trypsin-catalyzed proteolysis in vitro.;Polyubiquitinated; this modification induces proteolytic degradation and is impaired by interaction with ZC3H15. Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family. NA PE1 22 +NX_Q9Y296 Trafficking protein particle complex subunit 4 219 24340 5.84 0 cis-Golgi network;Endoplasmic reticulum;Cytosol NA May play a role in vesicular transport from endoplasmic reticulum to Golgi. NA Belongs to the TRAPP small subunits family. TRAPPC4 subfamily. Syndecan interactions;COPII-mediated vesicle transport;RAB GEFs exchange GTP for GDP on RABs PE1 11 +NX_Q9Y297 F-box/WD repeat-containing protein 1A 605 68867 8.3 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds to phosphorylated target proteins (PubMed:10066435, PubMed:10497169, PubMed:10644755, PubMed:10835356, PubMed:11238952, PubMed:11359933, PubMed:11994270, PubMed:12791267, PubMed:12902344, PubMed:14603323, PubMed:14681206, PubMed:14988407, PubMed:15448698, PubMed:15917222, PubMed:16371461, PubMed:25503564, PubMed:25704143, PubMed:9859996, PubMed:22087322). SCF(BTRC) mediates the ubiquitination of CTNNB1 and participates in Wnt signaling (PubMed:12077367, PubMed:12820959). SCF(BTRC) mediates the ubiquitination of phosphorylated NFKB1, ATF4, CDC25A, DLG1, FBXO5, PER1, SMAD3, SMAD4, SNAI1 and probably NFKB2 (PubMed:10835356, PubMed:11238952, PubMed:14681206, PubMed:14603323). SCF(BTRC) mediates the ubiquitination of NFKBIA, NFKBIB and NFKBIE; the degradation frees the associated NFKB1 to translocate into the nucleus and to activate transcription (PubMed:10066435, PubMed:10497169, PubMed:10644755). Ubiquitination of NFKBIA occurs at 'Lys-21' and 'Lys-22' (PubMed:10066435). SCF(BTRC) mediates the ubiquitination of CEP68; this is required for centriole separation during mitosis (PubMed:25704143, PubMed:25503564). SCF(BTRC) mediates the ubiquitination and subsequent degradation of nuclear NFE2L1 (By similarity). Has an essential role in the control of the clock-dependent transcription via degradation of phosphorylated PER1 and PER2 (PubMed:15917222). May be involved in ubiquitination and subsequent proteasomal degradation through a DBB1-CUL4 E3 ubiquitin-protein ligase. Required for activation of NFKB-mediated transcription by IL1B, MAP3K14, MAP3K1, IKBKB and TNF. Required for proteolytic processing of GLI3 (PubMed:16371461). Mediates ubiquitination of REST, thereby leading to its proteasomal degradation (PubMed:21258371, PubMed:18354482). NA NA Protein modification; protein ubiquitination.;Oocyte meiosis;Ubiquitin mediated proteolysis;Wnt signaling pathway;Hedgehog signaling pathway;Circadian rhythm - mammal;Shigellosis;Activation of NF-kappaB in B cells;SCF-beta-TrCP mediated degradation of Emi1;Vpu mediated degradation of CD4;Degradation of beta-catenin by the destruction complex;FCERI mediated NF-kB activation;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;Degradation of GLI1 by the proteasome;Degradation of GLI2 by the proteasome;GLI3 is processed to GLI3R by the proteasome;NIK-->noncanonical NF-kB signaling;Antigen processing: Ubiquitination & Proteasome degradation;Regulation of PLK1 Activity at G2/M Transition;Downstream TCR signaling;Circadian Clock;Prolactin receptor signaling;Deactivation of the beta-catenin transactivating complex;MAP3K8 (TPL2)-dependent MAPK1/3 activation;Neddylation;Interleukin-1 signaling PE1 10 +NX_Q9Y2A4 Zinc finger protein 443 671 77516 9.3 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9Y2A7 Nck-associated protein 1 1128 128790 6.18 1 Cytosol;Lamellipodium membrane;Cell membrane NA Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes. NA Belongs to the HEM-1/HEM-2 family. Regulation of actin cytoskeleton;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;VEGFA-VEGFR2 Pathway PE1 2 +NX_Q9Y2A9 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3 372 42534 8.96 1 Golgi apparatus membrane NA Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Has activity for type 2 oligosaccharides (PubMed:11042166). Also acts as a core1-1,3-N-acetylglucosaminyltransferase (Core1-beta3GlcNAcT) to form the 6-sulfo sialyl Lewis x on extended core1 O-glycans (PubMed:11439191). NA Belongs to the glycosyltransferase 31 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;O-linked glycosylation of mucins;Keratan sulfate biosynthesis PE1 19 +NX_Q9Y2B0 Protein canopy homolog 2 182 20652 4.81 0 Endoplasmic reticulum;Cytosol NA Positive regulator of neurite outgrowth by stabilizing myosin regulatory light chain (MRLC). It prevents MIR-mediated MRLC ubiquitination and its subsequent proteasomal degradation. NA Belongs to the canopy family. NA PE1 12 +NX_Q9Y2B1 Ribitol-5-phosphate xylosyltransferase 1 443 51146 8.57 1 Golgi apparatus;Nucleoplasm;Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 UDP-xylosyltransferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:25279699, PubMed:27601598, PubMed:27733679) (Probable). Acts as a UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase, which catalyzes the transfer of UDP-D-xylose to ribitol 5-phosphate (Rbo5P) to form the Xylbeta1-4Rbo5P linkage on O-mannosyl glycan (PubMed:27733679, PubMed:29477842) (Probable). NA Belongs to the RXYLT1 family. Protein modification; protein glycosylation. PE1 12 +NX_Q9Y2B2 N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase 252 28531 8.28 1 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome Involved in the second step of GPI biosynthesis. De-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol. NA Belongs to the PIGL family. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.;Glycosylphosphatidylinositol(GPI)-anchor biosynthesis;Metabolic pathways;Synthesis of glycosylphosphatidylinositol (GPI) PE1 17 +NX_Q9Y2B4 TP53-target gene 5 protein 290 34019 10.56 0 Cytoplasm;Nucleus NA May play a significant role in p53/TP53-mediating signaling pathway. NA NA NA PE1 20 +NX_Q9Y2B5 VPS9 domain-containing protein 1 631 68956 7.1 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 16 +NX_Q9Y2B9 cAMP-dependent protein kinase inhibitor gamma 76 7910 4.11 0 Nucleoplasm;Cytosol NA Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains. NA Belongs to the PKI family. NA PE1 20 +NX_Q9Y2C2 Uronyl 2-sulfotransferase 406 47673 8.88 1 Golgi apparatus membrane NA Sulfotransferase that catalyzes the transfer of sulfate to the position 2 of uronyl residues. Has mainly activity toward iduronyl residues in dermatan sulfate, and weaker activity toward glucuronyl residues of chondroitin sulfate. Has no activity toward desulfated N-resulfated heparin. NA Belongs to the sulfotransferase 3 family. Glycosaminoglycan biosynthesis - chondroitin sulfate;Dermatan sulfate biosynthesis PE1 6 +NX_Q9Y2C3 Beta-1,3-galactosyltransferase 5 310 36189 9.03 1 Golgi apparatus membrane NA Catalyzes the transfer of Gal to GlcNAc-based acceptors with a preference for the core3 O-linked glycan GlcNAc(beta1,3)GalNAc structure. Can use glycolipid LC3Cer as an efficient acceptor. NA Belongs to the glycosyltransferase 31 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - lacto and neolacto series;Glycosphingolipid biosynthesis - globo series;Metabolic pathways;Lewis blood group biosynthesis PE1 21 +NX_Q9Y2C4 Nuclease EXOG, mitochondrial 368 41085 8.45 0 Mitochondrion inner membrane;Mitochondrion NA Endo/exonuclease with nicking activity towards supercoiled DNA, a preference for single-stranded DNA and 5'-3' exonuclease activity. NA Belongs to the DNA/RNA non-specific endonuclease family. NA PE1 3 +NX_Q9Y2C5 Probable small intestine urate exporter 497 54055 7.45 10 Apical cell membrane;Cell membrane NA Acts as a membrane potential-dependent organic anion transporter, the transport requires a low concentration of chloride ions. May be involved in urate extrusion from the intestinal duct. May recognize hydrophilic anionic drugs such as aspirin, salicylate, and ibuprofen as substrates. Able to actively transport inorganic phosphate into cells via Na(+) cotransport (in vitro). NA Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. NA PE2 6 +NX_Q9Y2C9 Toll-like receptor 6 796 91880 6.83 1 Golgi apparatus;Cell membrane;Phagosome membrane;Endoplasmic reticulum;Membrane raft NA Participates in the innate immune response to Gram-positive bacteria and fungi. Specifically recognizes diacylated and, to a lesser extent, triacylated lipopeptides (PubMed:20037584). In response to diacylated lipopeptides, forms the activation cluster TLR2:TLR6:CD14:CD36, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway (PubMed:16880211). Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Recognizes mycoplasmal macrophage-activating lipopeptide-2kD (MALP-2), soluble tuberculosis factor (STF), phenol-soluble modulin (PSM) and B.burgdorferi outer surface protein A lipoprotein (OspA-L) cooperatively with TLR2 (PubMed:11441107). In complex with TLR4, promotes sterile inflammation in monocytes/macrophages in response to oxidized low-density lipoprotein (oxLDL) or amyloid-beta 42. In this context, the initial signal is provided by oxLDL- or amyloid-beta 42-binding to CD36. This event induces the formation of a heterodimer of TLR4 and TLR6, which is rapidly internalized and triggers inflammatory response, leading to the NF-kappa-B-dependent production of CXCL1, CXCL2 and CCL9 cytokines, via MYD88 signaling pathway, and CCL5 cytokine, via TICAM1 signaling pathway, as well as IL1B secretion (PubMed:11441107, PubMed:20037584). NA Belongs to the Toll-like receptor family. Phagosome;Toll-like receptor signaling pathway;Chagas disease (American trypanosomiasis);Tuberculosis;ER-Phagosome pathway;MyD88:MAL(TIRAP) cascade initiated on plasma membrane;MyD88 deficiency (TLR2/4);IRAK4 deficiency (TLR2/4);Toll Like Receptor TLR6:TLR2 Cascade;Regulation of TLR by endogenous ligand PE1 4 +NX_Q9Y2D0 Carbonic anhydrase 5B, mitochondrial 317 36434 7.7 0 Mitochondrion NA Reversible hydration of carbon dioxide. NA Belongs to the alpha-carbonic anhydrase family. Nitrogen metabolism;Reversible hydration of carbon dioxide PE1 X +NX_Q9Y2D1 Cyclic AMP-dependent transcription factor ATF-5 282 30674 4.9 0 Cytoplasm;Nucleoplasm;Centrosome;Cytosol;Nucleus NA Transcription factor that either stimulates or represses gene transcription through binding of different DNA regulatory elements such as cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), ATF5-specific response element (ARE) (consensus: 5'-C[CT]TCT[CT]CCTT[AT]-3') but also the amino acid response element (AARE), present in many viral and cellular promoters. Critically involved, often in a cell type-dependent manner, in cell survival, proliferation, and differentiation (PubMed:10373550, PubMed:15358120, PubMed:21212266, PubMed:20654631). Its transcriptional activity is enhanced by CCND3 and slightly inhibited by CDK4 (PubMed:15358120). Important regulator of the cerebral cortex formation, functions in cerebral cortical neuroprogenitor cells to maintain proliferation and to block differentiation into neurons. Must be down-regulated in order for such cells to exit the cycle and differentiate (By similarity). Participates in the pathways by which SHH promotes cerebellar granule neuron progenitor cells proliferation (By similarity). Critical for survival of mature olfactory sensory neurons (OSN), directs expression of OSN-specific genes (By similarity). May be involved in osteogenic differentiation (PubMed:22442021). Promotes cell proliferation and survival by inducing the expression of EGR1 sinergistically with ELK1. Once acetylated by EP300, binds to ARE sequences on target genes promoters, such as BCL2 and EGR1 (PubMed:21791614). Plays an anti-apoptotic role through the transcriptional regulation of BCL2, this function seems to be cell type-dependent (By similarity). Cooperates with NR1I3/CAR in the transcriptional activation of CYP2B6 in liver (PubMed:18332083). In hepatic cells, represses CRE-dependent transcription and inhibits proliferation by blocking at G2/M phase (PubMed:22528486, PubMed:18701499). May act as a negative regulator of IL1B transduction pathway in liver (PubMed:24379400). Upon IL1B stimulus, cooperates with NLK to activate the transactivation activity of C/EBP subfamily members (PubMed:25512613). Besides its function of transcription factor, acts as a cofactor of CEBPB to activate CEBPA and promote adipocyte differentiation (PubMed:24216764). Regulates centrosome dynamics in a cell-cycle- and centriole-age-dependent manner. Forms 9-foci symmetrical ring scaffold around the mother centriole to control centrosome function and the interaction between centrioles and pericentriolar material (PubMed:26213385). Acetylated at Lys-29 by EP300, the acetylation enhances the interaction with CEBPB, DNA-binding and transactivation activity.;Phosphorylated by NLK, probably at Ser-92, Thr-94, Ser-126 and Ser-190.;Ubiquitinated by CDC34 and UBE2B in order to be degraded by the proteasome. Cisplatin inhibits ubiquitination and proteasome-mediated degradation by inhibiting the interaction with CDC34 (PubMed:18458088). Ubiquitination and degradation by the proteasome are inhibited by NLK in a kinase-independent manner (PubMed:25512613). Belongs to the bZIP family. NA PE1 19 +NX_Q9Y2D2 UDP-N-acetylglucosamine transporter 325 35985 9.22 8 Golgi apparatus membrane Arthrogryposis, mental retardation, and seizures Uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) transporter in the Golgi apparatus. May supply UDP-GlcNAc as substrate for Golgi-resident glycosyltransferases that generate branching of diantennary oligosaccharides. NA Belongs to the nucleotide-sugar transporter family. SLC35A subfamily. Transport of nucleotide sugars;Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) PE1 1 +NX_Q9Y2D4 Exocyst complex component 6B 811 94201 6.03 0 Nucleoplasm;Cytosol;Nucleus Spondyloepimetaphyseal dysplasia with joint laxity, 3 Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. NA Belongs to the SEC15 family. NA PE1 2 +NX_Q9Y2D5 A-kinase anchor protein 2 859 94661 5.04 0 NA NA Binds to regulatory subunit (RII) of protein kinase A. May be involved in establishing polarity in signaling systems or in integrating PKA-RII isoforms with downstream effectors to capture, amplify and focus diffuse, trans-cellular signals carried by cAMP (By similarity). NA NA NA PE1 9 +NX_Q9Y2D8 Afadin- and alpha-actinin-binding protein 614 71236 6.03 0 Cytoplasm;Adherens junction;Centriolar satellite;Cell junction;Cilium basal body;Nucleus NA Belongs to an adhesion system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). May connect the nectin-afadin and E-cadherin-catenin system through alpha-actinin and may be involved in organization of the actin cytoskeleton at AJs through afadin and alpha-actinin (By similarity). Involved in cell movement: localizes at the leading edge of moving cells in response to PDGF and is required for the formation of the leading edge and the promotion of cell movement, possibly via activation of Rac signaling (By similarity). Acts as a centrosome maturation factor, probably by maintaining the integrity of the pericentriolar material and proper microtubule nucleation at mitotic spindle poles. The function seems to implicate at least in part WRAP73; the SSX2IP:WRAP73 complex is proposed to act as regulator of spindle anchoring at the mitotic centrosome (PubMed:23816619, PubMed:26545777). Involved in ciliogenesis (PubMed:24356449). It is required for targeted recruitment of the BBSome, CEP290, RAB8, and SSTR3 to the cilia (PubMed:24356449). NA Belongs to the ADIP family. Adherens junction PE1 1 +NX_Q9Y2D9 Zinc finger protein 652 606 69744 8.92 0 Nucleoplasm;Nucleus NA Functions as a transcriptional repressor. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 17 +NX_Q9Y2E4 Disco-interacting protein 2 homolog C 1556 170767 7.12 0 Nucleoplasm;Cytosol;Cytoplasmic vesicle NA NA NA Belongs to the DIP2 family. NA PE1 10 +NX_Q9Y2E5 Epididymis-specific alpha-mannosidase 1009 113979 6.74 0 Secreted NA NA NA Belongs to the glycosyl hydrolase 38 family. Other glycan degradation;Lysosomal oligosaccharide catabolism PE1 4 +NX_Q9Y2E6 E3 ubiquitin-protein ligase DTX4 619 67258 9.65 0 Cytoplasm;Cytoplasmic vesicle NA Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations (By similarity). Functions as a ubiquitin ligase protein in vivo, mediating 'Lys48'-linked polyubiquitination and promoting degradation of TBK1, targeting to TBK1 requires interaction with NLRP4. NA Belongs to the Deltex family. Protein modification; protein ubiquitination.;Notch signaling pathway;Regulation of innate immune responses to cytosolic DNA;IRF3-mediated induction of type I IFN;IRF3 mediated activation of type 1 IFN;Activated NOTCH1 Transmits Signal to the Nucleus PE1 11 +NX_Q9Y2E8 Sodium/hydrogen exchanger 8 581 65422 6.07 11 Golgi apparatus membrane NA Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction. NA Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. Sodium/Proton exchangers PE1 20 +NX_Q9Y2F5 Little elongation complex subunit 1 2266 247891 5.32 0 Cajal body;Nucleoplasm;Nucleus NA Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968, PubMed:23932780). Specifically acts as a scaffold protein that promotes the LEC complex formation and recruitment and RNA polymerase II occupancy at snRNA genes in subnuclear bodies (PubMed:23932780). NA Belongs to the ICE1 family. RNA polymerase II transcribes snRNA genes PE1 5 +NX_Q9Y2F9 BTB/POZ domain-containing protein 3 522 58420 7.42 0 Cytoplasmic vesicle;Cytosol;Nucleus NA Acts as a key regulator of dendritic field orientation during development of sensory cortex. Also directs dendrites toward active axon terminals when ectopically expressed (By similarity). NA NA NA PE1 20 +NX_Q9Y2G0 Protein EFR3 homolog B 817 92487 6.26 0 Cytosol;Cell membrane;Cytoskeleton NA Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:25608530, PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, EFR3B probably acts as the membrane-anchoring component (PubMed:23229899). Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect (PubMed:25380825). Palmitoylated at its N-terminus, anchoring the protein to the plasma membrane. Belongs to the EFR3 family. NA PE1 2 +NX_Q9Y2G1 Myelin regulatory factor 1151 124397 7.06 1 Cytoplasm;Endoplasmic reticulum membrane;Nucleoplasm;Cytosol;Nucleus Encephalitis/encephalopathy, mild, with reversible myelin vacuolization;Cardiac-urogenital syndrome Myelin regulatory factor: Constitutes a precursor of the transcription factor. Mediates the autocatalytic cleavage that releases the Myelin regulatory factor, N-terminal component that specifically activates transcription of central nervous system (CNS) myelin genes (PubMed:23966832).;Myelin regulatory factor, C-terminal: Membrane-bound part that has no transcription factor activity and remains attached to the endoplasmic reticulum membrane following cleavage.;Myelin regulatory factor, N-terminal: Transcription factor that specifically activates expression of myelin genes such as MBP, MOG, MAG, DUSP15 and PLP1 during oligodendrocyte (OL) maturation, thereby playing a central role in oligodendrocyte maturation and CNS myelination. Specifically recognizes and binds DNA sequence 5'-CTGGYAC-3' in the regulatory regions of myelin-specific genes and directly activates their expression. Not only required during oligodendrocyte differentiation but is also required on an ongoing basis for the maintenance of expression of myelin genes and for the maintenance of a mature, viable oligodendrocyte phenotype (PubMed:23966832). Myelin regulatory factor, C-terminal: Glycosylated.;Myelin regulatory factor: Follows autocatalytic cleavage via the peptidase S74 domain. Autoprocessing is apparently constitutive and is essential for transcriptional activity (PubMed:23966832). Autocatalytic cleavage is inhibited by interaction with TMEM98 (By similarity). Belongs to the MRF family. NA PE1 11 +NX_Q9Y2G2 Caspase recruitment domain-containing protein 8 431 48933 5.1 0 Cytoplasm;Nucleoplasm;Nucleus NA Inhibits NF-kappa-B activation. May participate in a regulatory mechanism that coordinates cellular responses controlled by NF-kappa-B transcription factor. May be a component of the inflammasome, a protein complex which also includes PYCARD, NALP2 and CASP1 and whose function would be the activation of proinflammatory caspases. NA NA NOD-like receptor signaling pathway;Formation of apoptosome;Regulation of the apoptosome activity PE1 19 +NX_Q9Y2G3 Probable phospholipid-transporting ATPase IF 1177 134190 6.52 10 trans-Golgi network;Early endosome;Centriolar satellite;Endoplasmic reticulum;Recycling endosome membrane;Cytosol NA Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). Involved in regulation of sensitivity to cisplatin; may contribute to secretory vesicle transport of cisplatin from Golgi to plasma membrane. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. Ion transport by P-type ATPases;Neutrophil degranulation PE1 3 +NX_Q9Y2G4 Ankyrin repeat domain-containing protein 6 727 79971 9.42 0 Cytoplasmic vesicle NA Recruits CKI-epsilon to the beta-catenin degradation complex that consists of AXN1 or AXN2 and GSK3-beta and allows efficient phosphorylation of beta-catenin, thereby inhibiting beta-catenin/Tcf signals. NA NA NA PE1 6 +NX_Q9Y2G5 GDP-fucose protein O-fucosyltransferase 2 429 49976 6.15 0 Golgi apparatus;Endoplasmic reticulum NA Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in the consensus sequence C1-X(2,3)-S/T-C2-X(2)-G of thrombospondin type 1 repeats where C1 and C2 are the first and second cysteines, respectively. O-fucosylates members of several protein families including the ADAMTS family, the thrombosporin (TSP) and spondin families. The O-fucosylation of TSRs is also required for restricting epithelial to mesenchymal transition (EMT), maintaining the correct patterning of mesoderm and localization of the definite endoderm (By similarity). Required for the proper secretion of ADAMTS family members such as ADAMSL1 and ADAMST13. NA Belongs to the glycosyltransferase 68 family. Protein modification; protein glycosylation.;Other types of O-glycan biosynthesis;O-glycosylation of TSR domain-containing proteins PE1 21 +NX_Q9Y2G7 Zinc finger protein 30 homolog 519 61558 9.16 0 Cytosol;Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9Y2G8 DnaJ homolog subfamily C member 16 782 90591 6.67 1 Membrane;Cytoplasmic vesicle NA NA NA NA NA PE1 1 +NX_Q9Y2G9 Protein strawberry notch homolog 2 1366 150275 6.09 0 NA NA Acts as a transcriptional coregulator, that can have both coactivator and corepressor functions. Inhibits the DCSTAMP-repressive activity of TAL1, hence enhancing the access of the transcription factor MITF to the DC-STAMP promoter in osteoclast. Plays a role in bone homeostasis; required as a positive regulator in TNFSF11//RANKL-mediated osteoclast fusion via a DCSTAMP-dependent pathway. May also be required in the regulation of osteoblast differentiation (By similarity). Involved in the transcriptional corepression of NF-kappaB in macrophages (PubMed:18025162). Plays a role as a regulator in the proinflammatory cascade (PubMed:18025162). NA Belongs to the SBNO family. NA PE1 19 +NX_Q9Y2H0 Disks large-associated protein 4 992 108012 6.65 0 Cytoplasm;Cell membrane;Focal adhesion;Membrane;Nucleoplasm;Cytosol NA May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane. DLGAP4 is phosphorylated by MAPK8 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the SAPAP family. Neurexins and neuroligins PE1 20 +NX_Q9Y2H1 Serine/threonine-protein kinase 38-like 464 54003 6.36 0 Membrane;Cytoplasm;Cytoskeleton NA Involved in the regulation of structural processes in differentiating and mature neuronal cells. NA Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. NA PE1 12 +NX_Q9Y2H2 Phosphatidylinositide phosphatase SAC2 1132 128407 6.57 0 Cytoplasmic vesicle;Early endosome;Clathrin-coated pit;Recycling endosome NA Inositol 4-phosphatase which mainly acts on phosphatidylinositol 4-phosphate. May be functionally linked to OCRL, which converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol, for a sequential dephosphorylation of phosphatidylinositol 4,5-bisphosphate at the 5 and 4 position of inositol, thus playing an important role in the endocytic recycling (PubMed:25869669). Regulator of TF:TFRC and integrins recycling pathway, is also involved in cell migration mechanisms (PubMed:25869669). Modulates AKT/GSK3B pathway by decreasing AKT and GSK3B phosphorylation (PubMed:17322895). Negatively regulates STAT3 signaling pathway through inhibition of STAT3 phosphorylation and translocation to the nucleus (PubMed:25476455). Functionally important modulator of cardiac myocyte size and of the cardiac response to stress (By similarity). May play a role as negative regulator of axon regeneration after central nervous system injuries (By similarity). NA NA Synthesis of PIPs at the early endosome membrane PE1 10 +NX_Q9Y2H5 Pleckstrin homology domain-containing family A member 6 1048 117128 9.15 0 Cytoplasmic vesicle;Cell junction NA NA NA NA Synthesis of PIPs at the plasma membrane PE1 1 +NX_Q9Y2H6 Fibronectin type-III domain-containing protein 3A 1198 131852 6.29 1 Endoplasmic reticulum;Golgi apparatus membrane NA Mediates spermatid-Sertoli adhesion during spermatogenesis. NA Belongs to the FNDC3 family. NA PE1 13 +NX_Q9Y2H8 Zinc finger protein 510 683 79142 9.18 0 Nucleoplasm;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 9 +NX_Q9Y2H9 Microtubule-associated serine/threonine-protein kinase 1 1570 170677 8.67 0 Cell membrane;Cytoplasmic vesicle;Axon;Dendrite;Cytoskeleton Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations Microtubule-associated protein essential for correct brain development (PubMed:30449657). Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins (By similarity). NA Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. NA PE1 19 +NX_Q9Y2I1 Nischarin 1504 166629 5.04 0 Recycling endosome;Early endosome;Cytoplasm;Cell membrane NA Acts either as the functional imidazoline-1 receptor (I1R) candidate or as a membrane-associated mediator of the I1R signaling. Binds numerous imidazoline ligands that induces initiation of cell-signaling cascades triggering to cell survival, growth and migration. Its activation by the agonist rilmenidine induces an increase in phosphorylation of mitogen-activated protein kinases MAPK1 and MAPK3 in rostral ventrolateral medulla (RVLM) neurons that exhibited rilmenidine-evoked hypotension (By similarity). Blocking its activation with efaroxan abolished rilmenidine-induced mitogen-activated protein kinase phosphorylation in RVLM neurons (By similarity). Acts as a modulator of Rac-regulated signal transduction pathways (By similarity). Suppresses Rac1-stimulated cell migration by interacting with PAK1 and inhibiting its kinase activity (By similarity). Also blocks Pak-independent Rac signaling by interacting with RAC1 and inhibiting Rac1-stimulated NF-kB response element and cyclin D1 promoter activation (By similarity). Inhibits also LIMK1 kinase activity by reducing LIMK1 'Tyr-508' phosphorylation (By similarity). Inhibits Rac-induced cell migration and invasion in breast and colon epithelial cells (By similarity). Inhibits lamellipodia formation, when overexpressed (By similarity). Plays a role in protection against apoptosis. Involved in association with IRS4 in the enhancement of insulin activation of MAPK1 and MAPK3. When overexpressed, induces a redistribution of cell surface ITGA5 integrin to intracellular endosomal structures. NA NA NA PE1 3 +NX_Q9Y2I2 Netrin-G1 539 60541 5.84 0 Cell membrane NA Involved in controlling patterning and neuronal circuit formation at the laminar, cellular, subcellular and synaptic levels. Promotes neurite outgrowth of both axons and dendrites. N-glycosylated.;NTNG1 is phosphorylated by CDKL5 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Axon guidance;Post-translational modification: synthesis of GPI-anchored proteins PE1 1 +NX_Q9Y2I6 Ninein-like protein 1382 156344 5.01 0 Cytoplasm;Cytosol;Centrosome;Cytoskeleton NA Involved in the microtubule organization in interphase cells. Overexpression induces the fragmentation of the Golgi, and causes lysosomes to disperse toward the cell periphery; it also interferes with mitotic spindle assembly. May play a role in ovarian carcinogenesis. Ubiquitinated by the APC/C complex leading to its degradation.;Phosphorylated by PLK1 which disrupts its centrosome association and interaction with gamma-tubulin.;NINL is phosphorylated by PLK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) NA Anchoring of the basal body to the plasma membrane;Regulation of PLK1 Activity at G2/M Transition;Loss of Nlp from mitotic centrosomes;Recruitment of mitotic centrosome proteins and complexes;Loss of proteins required for interphase microtubule organization from the centrosome;Recruitment of NuMA to mitotic centrosomes;AURKA Activation by TPX2 PE1 20 +NX_Q9Y2I7 1-phosphatidylinositol 3-phosphate 5-kinase 2098 237136 6.24 0 Cytoplasmic vesicle;Endosome membrane Corneal dystrophy, fleck The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Catalyzes the phosphorylation of phosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 3,5-bisphosphate. Required for endocytic-vacuolar pathway and nuclear migration. Plays a role in the biogenesis of endosome carrier vesicles (ECV)/ multivesicular bodies (MVB) transport intermediates from early endosomes. Phosphorylated in response to insulin at Ser-318 in a protein kinase B (PKB)-dependent manner. NA Inositol phosphate metabolism;Phosphatidylinositol signaling system;Phagosome;Regulation of actin cytoskeleton;Synthesis of PIPs at the Golgi membrane;Synthesis of PIPs at the early endosome membrane;Synthesis of PIPs at the late endosome membrane PE1 2 +NX_Q9Y2I8 WD repeat-containing protein 37 494 54665 6.79 0 Cytoplasm;Cytoskeleton NA NA NA NA NA PE1 10 +NX_Q9Y2I9 TBC1 domain family member 30 924 102743 8.57 0 Cytosol;Cell membrane NA GTPase-activating protein (GAP) with broad specificity. Acts as a GAP for RAB3A. Also exhibits significant GAP activity toward RAB22A, RAB27A, and RAB35 in vitro. NA NA NA PE1 12 +NX_Q9Y2J0 Rabphilin-3A 694 76872 8.62 0 Membrane;Dendritic spine;Synaptic vesicle membrane;Postsynaptic cell membrane NA Plays an essential role in docking and fusion steps of regulated exocytosis (By similarity). At the presynaptic level, RPH3A is recruited by RAB3A to the synaptic vesicle membrane in a GTP-dependent manner where it modulates synaptic vesicle trafficking and calcium-triggered neurotransmitter release (By similarity). In the post-synaptic compartment, forms a ternary complex with GRIN2A and DLG4 and regulates NMDA receptor stability. Plays also a role in the exocytosis of arginine vasopressin hormone (By similarity). Ubiquitinated. Deubiquitinated by CAND1 to prevent its degradation. NA NA PE1 12 +NX_Q9Y2J2 Band 4.1-like protein 3 1087 120678 5.09 0 Cytoplasm;Cell junction;Cytoskeleton;Cell membrane NA Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein arginine N-methyltransferases, including PRMT3 and PRMT5. NA NA Tight junction;Neurexins and neuroligins PE1 18 +NX_Q9Y2J4 Angiomotin-like protein 2 779 85764 6.81 0 Recycling endosome;Cell junction NA Regulates the translocation of phosphorylated SRC to peripheral cell-matrix adhesion sites. Required for proper architecture of actin filaments. Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus. Participates in angiogenesis. May play a role in the polarity, proliferation and migration of endothelial cells. Selectively promotes FGF-induced MAPK activation through SRC. Phosphorylation at Tyr-107 is necessary for efficient binding to SRC and synergistically functioning with SRC to activate the downstream MAPK pathway. Belongs to the angiomotin family. Signaling by Hippo PE1 3 +NX_Q9Y2J8 Protein-arginine deiminase type-2 665 75564 5.4 0 Cytoplasm NA Catalyzes the deimination of arginine residues of proteins. NA Belongs to the protein arginine deiminase family. Chromatin modifying enzymes;Neutrophil degranulation PE1 1 +NX_Q9Y2K1 Zinc finger and BTB domain-containing protein 1 713 82016 5.97 0 Nucleoplasm;Nucleus membrane;Nucleus NA Acts as a transcriptional repressor (PubMed:20797634). Represses cAMP-responsive element (CRE)-mediated transcriptional activation (PubMed:21706167). In addition, has a role in translesion DNA synthesis. Requires for UV-inducible RAD18 loading, PCNA monoubiquitination, POLH recruitment to replication factories and efficient translesion DNA synthesis (PubMed:24657165). Plays a key role in the transcriptional regulation of T lymphocyte development (By similarity). Sumoylated with SUMO2 at Lys-328 and to a lesser extent at Lys-265. Sumoylation inhibits its transcriptional repression activity and regulates its subcellular localization. NA NA PE1 14 +NX_Q9Y2K2 Serine/threonine-protein kinase SIK3 1321 144851 6.3 0 Nucleoplasm;Cytoplasm Spondyloepimetaphyseal dysplasia, Krakow type Positive regulator of mTOR signaling that functions by triggering the degradation of DEPTOR, an mTOR inhibitor. Involved in the dynamic regulation of mTOR signaling in chondrocyte differentiation during skeletogenesis (PubMed:30232230). Negatively regulates cAMP signaling pathway possibly by acting on CRTC2/TORC2 and CRTC3/TORC3 (Probable). Prevents HDAC4 translocation to the nucleus (By similarity). Phosphorylated at Thr-221 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39 (PubMed:14976552). Phosphorylation at Thr-221 is inhibited in response to PTHLH/PTHrP (PubMed:30232230). Phosphorylated at Thr-469 and Ser-551 in response to cAMP signaling (Probable). Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily. NA PE1 11 +NX_Q9Y2K3 Myosin-15 1946 224619 5.67 0 Myofibril NA Muscle contraction. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Tight junction;Viral myocarditis PE1 3 +NX_Q9Y2K5 R3H domain-containing protein 2 976 106999 8.99 0 Nucleoplasm;Nucleus NA NA NA NA NA PE1 12 +NX_Q9Y2K6 Ubiquitin carboxyl-terminal hydrolase 20 914 102003 5.75 0 Cell membrane;Nucleoplasm;Centrosome;Cytosol;Perinuclear region NA Deubiquitinating enzyme involved in beta-2 adrenergic receptor (ADRB2) recycling. Acts as a regulator of G-protein coupled receptor (GPCR) signaling by mediating the deubiquitination beta-2 adrenergic receptor (ADRB2). Plays a central role in ADRB2 recycling and resensitization after prolonged agonist stimulation by constitutively binding ADRB2, mediating deubiquitination of ADRB2 and inhibiting lysosomal trafficking of ADRB2. Upon dissociation, it is probably transferred to the translocated beta-arrestins, possibly leading to beta-arrestins deubiquitination and disengagement from ADRB2. This suggests the existence of a dynamic exchange between the ADRB2 and beta-arrestins. Deubiquitinates DIO2, thereby regulating thyroid hormone regulation. Deubiquitinates HIF1A, leading to stabilize HIF1A and enhance HIF1A-mediated activity. Mediates deubiquitination of both 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Ubiquitinated via a VHL-dependent pathway for proteasomal degradation. Belongs to the peptidase C19 family. USP20/USP33 subfamily. Ub-specific processing proteases PE1 9 +NX_Q9Y2K7 Lysine-specific demethylase 2A 1162 132793 7.73 0 Nucleoplasm NA Histone demethylase that specifically demethylates 'Lys-36' of histone H3, thereby playing a central role in histone code. Preferentially demethylates dimethylated H3 'Lys-36' residue while it has weak or no activity for mono- and tri-methylated H3 'Lys-36'. May also recognize and bind to some phosphorylated proteins and promote their ubiquitination and degradation. Required to maintain the heterochromatic state. Associates with centromeres and represses transcription of small non-coding RNAs that are encoded by the clusters of satellite repeats at the centromere. Required to sustain centromeric integrity and genomic stability, particularly during mitosis. Regulates circadian gene expression by repressing the transcriptional activator activity of CLOCK-ARNTL/BMAL1 heterodimer and RORA in a catalytically-independent manner (PubMed:26037310). NA Belongs to the JHDM1 histone demethylase family. HDMs demethylate histones PE1 11 +NX_Q9Y2K9 Syntaxin-binding protein 5-like 1186 131887 6.51 0 Membrane;Cytoplasm;Cell membrane NA Plays a role in vesicle trafficking and exocytosis inhibition. In pancreatic beta-cells, inhibits insulin secretion probably by interacting with and regulating STX1A and STX4, key t-SNARE proteins involved in the fusion of insulin granules to the plasma membrane. Plays also a role in neurotransmitter release by inhibiting basal acetylcholine release from axon terminals and by preventing synaptic fatigue upon repetitive stimulation (By similarity). Promotes as well axonal outgrowth (PubMed:25504045). Phosphorylated, leading to STXBP5L increased turnover and subsequent de-repression of insulin secretion (By similarity). Phosphorylated on serine residues in response to glucose or phorbol esters (By similarity).;Ubiquitinated by the E3 ligase SYVN1, leading to STXBP5L proteasomal degradation. Belongs to the WD repeat L(2)GL family. NA PE1 3 +NX_Q9Y2L1 Exosome complex exonuclease RRP44 958 109003 6.69 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Nucleus NA Putative catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. DIS3 has both 3'-5' exonuclease and endonuclease activities. NA Belongs to the RNR ribonuclease family. RNA degradation;ATF4 activates genes in response to endoplasmic reticulum stress;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA;KSRP (KHSRP) binds and destabilizes mRNA;mRNA decay by 3' to 5' exoribonuclease;Major pathway of rRNA processing in the nucleolus and cytosol PE1 13 +NX_Q9Y2L5 Trafficking protein particle complex subunit 8 1435 160997 6.41 0 Cytoplasm;cis-Golgi network;Cytosol;Nucleus;Cytoskeleton NA Plays a role in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage (PubMed:21525244). Maintains together with TBC1D14 the cycling pool of ATG9 required for initiation of autophagy (PubMed:26711178). NA Belongs to the TRS85 family. RAB GEFs exchange GTP for GDP on RABs PE1 18 +NX_Q9Y2L6 FERM domain-containing protein 4B 1034 118047 8.79 0 Tight junction;Adherens junction;Cytoskeleton NA Member of GRP1 signaling complexes that are acutely recruited to plasma membrane ruffles in response to insulin receptor signaling. May function as a scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex. Plays a redundant role with FRMD4A in epithelial polarization. NA NA NA PE1 3 +NX_Q9Y2L8 Zinc finger protein with KRAB and SCAN domains 5 839 96903 7.43 0 Nucleus;Cytoskeleton NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 7 +NX_Q9Y2L9 Leucine-rich repeat and calponin homology domain-containing protein 1 728 80875 5.59 0 Cytoplasm;Cytosol;Nucleolus;Cytoskeleton NA Acts as a negative regulator of GTPase CDC42 by sequestering CDC42-guanine exchange factor DOCK8. Probably by preventing CDC42 activation, negatively regulates CD4(+) T-cell migration. NA NA NA PE1 13 +NX_Q9Y2M0 Fanconi-associated nuclease 1 1017 114225 7.1 0 Nucleoplasm;Cytosol;Nucleus;Cytoskeleton Interstitial nephritis, karyomegalic Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombination, probably in the resolution of homologous recombination intermediates (PubMed:20603015, PubMed:20603016, PubMed:20603073, PubMed:20671156, PubMed:24981866, PubMed:25430771). Not involved in DNA double-strand breaks resection (PubMed:20603015, PubMed:20603016). Acts as a 5'-3' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Probably keeps excising with 3'-flap annealing until it reaches and unhooks the ICL (PubMed:25430771). Acts at sites that have a 5'-terminal phosphate anchor at a nick or a 1- or 2-nucleotide flap and is augmented by a 3' flap (PubMed:25430771). Also has endonuclease activity toward 5'-flaps (PubMed:20603015, PubMed:20603016, PubMed:24981866). Ubiquitinated and degraded during mitotic exit by the APC/C-Cdh1 complex. Belongs to the FAN1 family. Fanconi anemia pathway;Fanconi Anemia Pathway PE1 15 +NX_Q9Y2M2 Protein SSUH2 homolog 353 39845 9.26 0 Cytoplasm;Nucleus NA Plays a role in odontogenesis. NA NA NA PE1 3 +NX_Q9Y2M5 Kelch-like protein 20 609 67955 6.45 0 trans-Golgi network;Golgi apparatus;Perinuclear region;Cytosol;Axon;Dendrite;Nucleus NA Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in interferon response and anterograde Golgi to endosome transport. The BCR(KLHL20) E3 ubiquitin ligase complex mediates the ubiquitination of DAPK1, leading to its degradation by the proteasome, thereby acting as a negative regulator of apoptosis (PubMed:20389280). The BCR(KLHL20) E3 ubiquitin ligase complex also specifically mediates 'Lys-33'-linked ubiquitination (PubMed:24768539). Involved in anterograde Golgi to endosome transport by mediating 'Lys-33'-linked ubiquitination of CORO7, promoting interaction between CORO7 and EPS15, thereby facilitating actin polymerization and post-Golgi trafficking (PubMed:24768539). Also acts as a regulator of endothelial migration during angiogenesis by controlling the activation of Rho GTPases. The BCR(KLHL20) E3 ubiquitin ligase complex acts as a regulator of neurite outgrowth by mediating ubiquitination and degradation of PDZ-RhoGEF/ARHGEF11 (PubMed:21670212). In case of tumor, the BCR(KLHL20) E3 ubiquitin ligase complex is involved in tumor hypoxia: following hypoxia, the BCR(KLHL20)complex mediates ubiquitination and degradation of PML, potentiating HIF-1 signaling and cancer progression (PubMed:21840486). NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 1 +NX_Q9Y2N7 Hypoxia-inducible factor 3-alpha 669 72433 5.67 0 Cytoplasm;Nucleus speckle;Mitochondrion;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Attenuates the ability of transcription factor HIF1A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation. Also inhibits hypoxia-inducible ARNT-mediated gene expression.;Attenuates the ability of transcription factor HIF1A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation.;Attenuates the ability of transcription factor HIF1A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation.;Attenuates the ability of transcription factor HIF1A and EPAS1/HIF2A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation (PubMed:16126907, PubMed:17998805, PubMed:19694616, PubMed:20416395). May act as a tumor suppressor and inhibits malignant cell transformation (PubMed:17998805).;Acts as a transcriptional regulator in adaptive response to low oxygen tension. Acts as a regulator of hypoxia-inducible gene expression (PubMed:11573933, PubMed:16126907, PubMed:19694616, PubMed:20416395, PubMed:21069422). Functions as an inhibitor of angiogenesis in hypoxic cells of the cornea. Plays a role in the development of the cardiorespiratory system. May also be involved in apoptosis (By similarity). Ubiquitinated; ubiquitination occurs in a VHL- and oxygen-dependent pathway and subsequently targeted for proteasomal degradation.;In normoxia, hydroxylated on Pro-492 in the oxygen-dependent degradation domain (ODD) by prolyl hydroxylase(s) (PHD). The hydroxylated proline promotes interaction with VHL, initiating rapid ubiquitination and subsequent proteasomal degradation. NA Transcriptional regulation of pluripotent stem cells;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Regulation of gene expression by Hypoxia-inducible Factor;Neddylation PE1 19 +NX_Q9Y2P0 Zinc finger protein 835 537 59631 8.88 0 Nucleus;Cytoskeleton NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q9Y2P4 Long-chain fatty acid transport protein 6 619 70112 8.75 2 Membrane;Sarcolemma;Nucleus NA Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Thought to function as the predominant fatty acid protein transporter in heart. NA Belongs to the ATP-dependent AMP-binding enzyme family. PPAR signaling pathway;Transport of fatty acids PE1 5 +NX_Q9Y2P5 Bile acyl-CoA synthetase 690 75385 7.8 2 Endoplasmic reticulum membrane;Microsome;Cell membrane NA Acyl-CoA synthetase that catalyzes the activation of bile acids via formation of bile acid CoA thioesters which is necessary for their subsequent conjugation with glycine or taurine (PubMed:10749848, PubMed:11980911). Both primary bile acids (cholic acid and chenodeoxycholic acid) and secondary bile acids (deoxycholic acid and lithocholic acid) are the principal substrates (PubMed:10749848, PubMed:11980911). Also exhibits acyl CoA synthetase activity that activates very long-chain fatty acids (VLCFAs) by catalyzing the formation of fatty acyl-CoA (PubMed:10479480). In vitro, also activates 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol (PubMed:11980911). Exhibits long-chain fatty acids (LCFA) transport activity (PubMed:20530735). Plays an important role in hepatic fatty acid uptake and bile acid reconjugation and recycling but not in de novo synthesis of bile acids (By similarity). NA Belongs to the ATP-dependent AMP-binding enzyme family. Primary bile acid biosynthesis;Metabolic pathways;PPAR signaling pathway;Bile secretion;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 24-hydroxycholesterol;Recycling of bile acids and salts PE1 19 +NX_Q9Y2P7 Zinc finger protein 256 627 71871 9.12 0 Nucleoplasm;Nucleus NA Transcriptional repressor that plays a role in cell proliferation. Requires TRIM28 for its activity. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9Y2P8 RNA 3'-terminal phosphate cyclase-like protein 373 40843 9.36 0 Nucleoplasm;Nucleolus NA Does not have cyclase activity. Plays a role in 40S-ribosomal-subunit biogenesis in the early pre-rRNA processing steps at sites A0, A1 and A2 that are required for proper maturation of the 18S RNA (By similarity). NA Belongs to the RNA 3'-terminal cyclase family. Type 2 subfamily. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 9 +NX_Q9Y2Q0 Phospholipid-transporting ATPase IA 1164 131369 6.41 10 Golgi apparatus;Chromaffin granule membrane;Cell membrane;Endoplasmic reticulum;Cytoplasmic vesicle;Cytoplasmic granule NA Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. In vitro, its ATPase activity is selectively and stereospecifically stimulated by phosphatidylserine (PS). The flippase complex ATP8A1:TMEM30A seems to play a role in regulation of cell migration probably involving flippase-mediated translocation of phosphatidylethanolamine (PE) at the plasma membrane. Acts as aminophospholipid translocase at the plasma membrane in neuronal cells. NA Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. Ion transport by P-type ATPases;Neutrophil degranulation PE1 4 +NX_Q9Y2Q1 Zinc finger protein 257 563 65779 9.23 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE2 19 +NX_Q9Y2Q3 Glutathione S-transferase kappa 1 226 25497 8.51 0 Cytoplasm;Peroxisome;Nucleus NA Significant glutathione conjugating activity is found only with the model substrate, 1-chloro-2,4-dinitrobenzene (CDNB). NA Belongs to the GST superfamily. Kappa family. Glutathione metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Peroxisome;Glutathione conjugation;Peroxisomal protein import PE1 7 +NX_Q9Y2Q5 Ragulator complex protein LAMTOR2 125 13508 5.3 0 Cytoplasm;Lysosome membrane;Nucleoplasm;Cytoplasmic vesicle;Late endosome membrane Immunodeficiency due to defect in MAPBP-interacting protein As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. Adapter protein that enhances the efficiency of the MAP kinase cascade facilitating the activation of MAPK2. NA Belongs to the GAMAD family. Macroautophagy;MAP2K and MAPK activation;TP53 Regulates Metabolic Genes;Energy dependent regulation of mTOR by LKB1-AMPK;mTOR signalling;mTORC1-mediated signalling;Neutrophil degranulation;Regulation of PTEN gene transcription PE1 1 +NX_Q9Y2Q9 28S ribosomal protein S28, mitochondrial 187 20843 9.22 0 Mitochondrion NA NA NA Belongs to the bacterial ribosomal protein bS1 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 8 +NX_Q9Y2R0 Cytochrome c oxidase assembly factor 3 homolog, mitochondrial 106 11731 9.59 1 Mitochondrion inner membrane;Mitochondrion NA Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for efficient translation of MT-CO1 and mitochondrial respiratory chain complex IV assembly. NA Belongs to the COA3 family. NA PE1 17 +NX_Q9Y2R2 Tyrosine-protein phosphatase non-receptor type 22 807 91705 7.5 0 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm;Cell membrane Diabetes mellitus, insulin-dependent;Vitiligo;Rheumatoid arthritis;Systemic lupus erythematosus Acts as negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signaling molecules (PubMed:16461343, PubMed:18056643). Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating 'Tyr-394' residue (PubMed:21719704). Dephosphorylates ZAP70 at its activating 'Tyr-493' residue (PubMed:16461343). Dephosphorylates the immune system activator SKAP2 (PubMed:21719704). Positively regulates toll-like receptor (TLR)-induced type 1 interferon production (PubMed:23871208). Promotes host antiviral responses mediated by type 1 interferon (By similarity). Regulates NOD2-induced pro-inflammatory cytokine secretion and autophagy (PubMed:23991106). Phosphorylation on Ser-35 by PKC/PRKCD abrogates its ability to dephosphorylate and inactivate the SRC family kinases. Belongs to the protein-tyrosine phosphatase family. Non-receptor class 4 subfamily. Phosphorylation of CD3 and TCR zeta chains;Translocation of ZAP-70 to Immunological synapse PE1 1 +NX_Q9Y2R4 Probable ATP-dependent RNA helicase DDX52 599 67498 9.69 0 Nucleoplasm;Nucleolus NA NA NA Belongs to the DEAD box helicase family. DDX52/ROK1 subfamily. rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 17 +NX_Q9Y2R5 28S ribosomal protein S17, mitochondrial 130 14502 9.87 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uS17 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 7 +NX_Q9Y2R9 28S ribosomal protein S7, mitochondrial 242 28134 10 0 Mitochondrion Combined oxidative phosphorylation deficiency 34 NA NA Belongs to the universal ribosomal protein uS7 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 17 +NX_Q9Y2S2 Lambda-crystallin homolog 319 35419 5.81 0 Golgi apparatus;Cytoplasm;Cell membrane;Nucleolus;Nucleoplasm NA NA NA Belongs to the 3-hydroxyacyl-CoA dehydrogenase family. Pentose and glucuronate interconversions;Metabolic pathways;Formation of xylulose-5-phosphate PE1 13 +NX_Q9Y2S6 Translation machinery-associated protein 7 64 7066 10 0 Nucleoplasm;Nucleolus;Nucleus NA NA NA Belongs to the TMA7 family. NA PE1 3 +NX_Q9Y2S7 Polymerase delta-interacting protein 2 368 42033 8.8 0 Mitochondrion;Nucleus NA NA NA NA NA PE1 17 +NX_Q9Y2T1 Axin-2 843 93558 7.82 0 Nucleoplasm;Cytosol;Cytoplasm;Cell membrane Oligodontia-colorectal cancer syndrome;Colorectal cancer Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B. ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP-ribosylated protein is recognized by RNF146, followed by ubiquitination and subsequent activation of the Wnt signaling pathway.;Probably phosphorylated by GSK3B and dephosphorylated by PP2A.;Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation and subsequent activation of the Wnt signaling pathway. Deubiquitinated by USP34, deubiquitinated downstream of beta-catenin stabilization step: deubiquitination is important Wnt signaling to positively regulate beta-catenin (CTNBB1)-mediated transcription. NA Wnt signaling pathway;Pathways in cancer;Colorectal cancer;Endometrial cancer;Basal cell carcinoma;Degradation of AXIN;TCF dependent signaling in response to WNT;Binding of TCF/LEF:CTNNB1 to target gene promoters;Ub-specific processing proteases PE1 17 +NX_Q9Y2T2 AP-3 complex subunit mu-1 418 46939 6.47 0 Golgi apparatus;Cytoplasmic vesicle membrane NA Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. NA Belongs to the adaptor complexes medium subunit family. Lysosome;Association of TriC/CCT with target proteins during biosynthesis PE1 10 +NX_Q9Y2T3 Guanine deaminase 454 51003 5.44 0 Nucleoplasm NA Catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia. NA Belongs to the metallo-dependent hydrolases superfamily. ATZ/TRZ family. Purine metabolism; guanine degradation; xanthine from guanine: step 1/1.;Purine metabolism;Metabolic pathways;Purine catabolism PE1 9 +NX_Q9Y2T4 Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform 447 51515 5.92 0 NA NA The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. NA Belongs to the phosphatase 2A regulatory subunit B family. mRNA surveillance pathway;Tight junction;Dopaminergic synapse;Chagas disease (American trypanosomiasis);Hepatitis C PE1 4 +NX_Q9Y2T5 G-protein coupled receptor 52 361 41354 8.45 7 Cell membrane NA Gs-coupled receptor activated by antipsychotics reserpine leading to an increase in intracellular cAMP and its internalization (PubMed:24587241). May play a role in locomotor activity through modulation of dopamine, NMDA and ADORA2A-induced locomotor activity. These behavioral changes are accompanied by modulation of the dopamine receptor signaling pathway in striatum (PubMed:24587241). Modulates HTT level via cAMP-dependent but PKA independent mechanisms throught activation of RAB39B that translocates HTT to the endoplasmic reticulum, thus avoiding proteasome degradation (PubMed:25738228). NA Belongs to the G-protein coupled receptor 1 family. NA PE1 1 +NX_Q9Y2T6 G-protein coupled receptor 55 319 36637 8.8 7 Cell membrane NA May be involved in hyperalgesia associated with inflammatory and neuropathic pain (By similarity). Receptor for L-alpha-lysophosphatidylinositol (LPI). LPI induces Ca(2+) release from intracellular stores via the heterotrimeric G protein GNA13 and RHOA. Putative cannabinoid receptor. May play a role in bone physiology by regulating osteoclast number and function. NA Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;Class A/1 (Rhodopsin-like receptors) PE1 2 +NX_Q9Y2T7 Y-box-binding protein 2 364 38518 10.8 0 Cytoplasm;Nucleus NA Major constituent of messenger ribonucleoprotein particles (mRNPs). Involved in the regulation of the stability and/or translation of germ cell mRNAs. Binds to Y-box consensus promoter element. Binds to full-length mRNA with high affinity in a sequence-independent manner. Binds to short RNA sequences containing the consensus site 5'-UCCAUCA-3' with low affinity and limited sequence specificity. Its binding with maternal mRNAs is necessary for its cytoplasmic retention. May mark specific mRNAs (those transcribed from Y-box promoters) in the nucleus for cytoplasmic storage, thereby linking transcription and mRNA storage/translational delay (By similarity). Phosphorylated during oocyte maturation and dephosphorylated following egg activation. Phosphorylated in vitro by a kinase activity associated with testicular mRNPs. Dephosphorylation leads to a decrease in its affinity to bind RNA in vitro (By similarity). NA NA PE1 17 +NX_Q9Y2U2 Potassium channel subfamily K member 7 307 31947 6.7 4 Membrane;Cell membrane NA Probable potassium channel subunit. No channel activity observed in vitro as protein remains in the endoplasmic reticulum. May need to associate with an as yet unknown partner in order to reach the plasma membrane. NA Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK);Phase 4 - resting membrane potential PE2 11 +NX_Q9Y2U5 Mitogen-activated protein kinase kinase kinase 2 619 69741 8.04 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Component of a protein kinase signal transduction cascade. Regulates the JNK and ERK5 pathways by phosphorylating and activating MAP2K5 and MAP2K7 (By similarity). Plays a role in caveolae kiss-and-run dynamics. Ubiquitination by XIAP/BIRC4 does not lead to proteasomal degradation.;Autophosphorylated.;MAP3K2 is phosphorylated by WNK1 Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. MAPK signaling pathway;Gap junction;GnRH signaling pathway PE1 2 +NX_Q9Y2U8 Inner nuclear membrane protein Man1 911 99997 7.32 2 Nucleus inner membrane;Nucleus membrane Buschke-Ollendorff syndrome Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest. NA NA Initiation of Nuclear Envelope Reformation;Depolymerisation of the Nuclear Lamina;Nuclear Envelope Breakdown PE1 12 +NX_Q9Y2U9 Kelch domain-containing protein 2 406 46099 6.13 0 Nucleoplasm;Nucleus membrane;Nucleus NA Represses CREB3-mediated transcription by interfering with CREB3-DNA binding. NA NA NA PE1 14 +NX_Q9Y2V0 Protein C15orf41 281 32264 6.15 0 Nucleoplasm;Cytoplasm;Nucleus Anemia, congenital dyserythropoietic, 1B Plays a role in erythroid cell differentiation. NA NA NA PE1 15 +NX_Q9Y2V2 Calcium-regulated heat-stable protein 1 147 15892 8.41 0 Cytoplasm;P-body;Cytoplasmic granule NA Binds mRNA and regulates the stability of target mRNA. Binds single-stranded DNA (in vitro). Dephosphorylated by calcineurin in a Ca(2+) dependent manner (By similarity). Can be phosphorylated by DYRK2 (in vitro). NA NA PE1 16 +NX_Q9Y2V3 Retinal homeobox protein Rx 346 36676 9.11 0 Nucleus Microphthalmia, isolated, 3 Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor cell-specific arrestin promoter. NA Belongs to the paired homeobox family. Bicoid subfamily. NA PE1 18 +NX_Q9Y2V7 Conserved oligomeric Golgi complex subunit 6 657 73279 5.51 0 Golgi apparatus;Nucleus speckle;Golgi apparatus membrane Shaheen syndrome;Congenital disorder of glycosylation 2L Required for normal Golgi function. NA Belongs to the COG6 family. Intra-Golgi traffic;COPI-mediated anterograde transport;Retrograde transport at the Trans-Golgi-Network PE1 13 +NX_Q9Y2W1 Thyroid hormone receptor-associated protein 3 955 108666 10.16 0 Nucleoplasm;Nucleus speckle;Nucleus NA Involved in pre-mRNA splicing. Remains associated with spliced mRNA after splicing which probably involves interactions with the exon junction complex (EJC). Can trigger mRNA decay which seems to be independent of nonsense-mediated decay involving premature stop codons (PTC) recognition. May be involved in nuclear mRNA decay. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45 is proposed to sequester phosphorylated SFPQ from PTPRC/CD45 pre-mRNA in resting T-cells. Involved in cyclin-D1/CCND1 mRNA stability probably by acting as component of the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. Involved in response to DNA damage. Is excluced from DNA damage sites in a manner that parallels transcription inhibition; the function may involve the SNARP complex. Initially thought to play a role in transcriptional coactivation through its association with the TRAP complex; however, it is not regarded as a stable Mediator complex subunit. Cooperatively with HELZ2, enhances the transcriptional activation mediated by PPARG, maybe through the stabilization of the PPARG binding to DNA in presence of ligand. May play a role in the terminal stage of adipocyte differentiation. Plays a role in the positive regulation of the circadian clock. Acts as a coactivator of the CLOCK-ARNTL/BMAL1 heterodimer and promotes its transcriptional activator activity and binding to circadian target genes (PubMed:24043798). ADP-ribosylation during genotoxic stress promotes accumulation in nuclear speckles.;THRAP3 is phosphorylated by MAPK3 Belongs to the BCLAF1/THRAP3 family. PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 1 +NX_Q9Y2W2 WW domain-binding protein 11 641 69998 8.28 0 Cytoplasm;Nucleoplasm;Nucleus NA Activates pre-mRNA splicing. May inhibit PP1 phosphatase activity. NA NA Spliceosome;mRNA Splicing - Major Pathway PE1 12 +NX_Q9Y2W3 Proton-associated sugar transporter A 782 84541 8.01 12 Membrane Intellectual developmental disorder with neuropsychiatric features Proton-associated glucose transporter in the brain. NA Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. NA PE1 1 +NX_Q9Y2W6 Tudor and KH domain-containing protein 561 62046 4.91 0 Cytoplasm;Cytosol;Centrosome;Mitochondrion NA Participates in the primary piRNA biogenesis pathway and is required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Required for the final steps of primary piRNA biogenesis by participating in the processing of 31-37 nt intermediates into mature piRNAs. May act in pi-bodies and piP-bodies by transferring piRNA precursors or intermediates to or between these granules. Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. Belongs to the Tdrkh family. PIWI-interacting RNA (piRNA) biogenesis PE1 1 +NX_Q9Y2W7 Calsenilin 256 29231 5.23 0 Golgi apparatus;Cytoplasm;Cell membrane;Endoplasmic reticulum;Nucleus NA May play a role in the regulation of PSEN2 proteolytic processing and apoptosis. Together with PSEN2 involved in modulation of amyloid-beta formation.;Calcium-dependent transcriptional repressor that binds to the DRE element of genes including PDYN and FOS. Affinity for DNA is reduced upon binding to calcium and enhanced by binding to magnesium. Seems to be involved in nociception (By similarity).;Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels, such as KCND2/Kv4.2 and KCND3/Kv4.3. Modulates channel expression at the cell membrane, gating characteristics, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. Palmitoylated. Palmitoylation enhances association with the plasma membrane (By similarity).;Proteolytically cleaved by caspase-3.;Phosphorylation at Ser-63 inhibits cleavage by CASP3.;KCNIP3 is phosphorylated by GRK6 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the recoverin family. Phase 1 - inactivation of fast Na+ channels PE1 2 +NX_Q9Y2X0 Mediator of RNA polymerase II transcription subunit 16 877 96793 7.12 0 Nucleus;Nucleolus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 16 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 19 +NX_Q9Y2X3 Nucleolar protein 58 529 59578 9.03 0 Nucleoplasm;Nucleolus NA Required for 60S ribosomal subunit biogenesis (By similarity). Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles. Required for the biogenesis of box C/D snoRNAs such as U3, U8 and U14 snoRNAs. Sumoylation is essential for high-affinity binding to snoRNAs. Belongs to the NOP5/NOP56 family. Ribosome biogenesis in eukaryotes;SUMOylation of RNA binding proteins;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 2 +NX_Q9Y2X7 ARF GTPase-activating protein GIT1 761 84341 6.33 0 Cytoplasm;Cytosol;Mitochondrion;Focal adhesion NA GTPase-activating protein for the ADP ribosylation factor family. May serve as a scaffold to bring together molecules to form signaling modules controlling vesicle trafficking, adhesion and cytoskeletal organization. Increases the speed of cell migration, as well as the size and rate of formation of protrusions, possibly by targeting PAK1 to adhesions and the leading edge of lamellipodia. Sequesters inactive non-tyrosine-phosphorylated paxillin in cytoplasmic complexes. Involved in the regulation of cytokinesis; the function may involve ENTR1 and PTPN13 (By similarity). Phosphorylated on tyrosine residues by PTK2/FAK1 and SRC in growing fibroblasts. Tyrosine-phosphorylation is increased following cell spreading on fibronectin, decreased in cells arrested in mitosis and increased in the ensuing G1 phase (By similarity). NA Endocytosis;Regulation of actin cytoskeleton;Epithelial cell signaling in Helicobacter pylori infection;Ephrin signaling;Activation of RAC1 downstream of NMDARs PE1 17 +NX_Q9Y2X8 Ubiquitin-conjugating enzyme E2 D4 147 16649 6.88 0 NA NA Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, but may prefer 'Lys-11' and 'Lys-48'-linked polyubiquitination. NA Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;Antigen processing: Ubiquitination & Proteasome degradation PE1 7 +NX_Q9Y2X9 Zinc finger protein 281 895 96915 8.71 0 Nucleoplasm;Nucleus NA Transcription repressor that plays a role in regulation of embryonic stem cells (ESCs) differentiation. Required for ESCs differentiation and acts by mediating autorepression of NANOG in ESCs: binds to the NANOG promoter and promotes association of NANOG protein to its own promoter and recruits the NuRD complex, which deacetylates histones. Not required for establishement and maintenance of ESCs (By similarity). Represses the transcription of a number of genes including GAST, ODC1 and VIM. Binds to the G-rich box in the enhancer region of these genes. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 1 +NX_Q9Y2Y0 ADP-ribosylation factor-like protein 2-binding protein 163 18822 4.23 0 Cytoplasm;Mitochondrion intermembrane space;Cilium basal body;Centrosome;Spindle;Nucleus Retinitis pigmentosa 82 with or without situs inversus Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. May play a role as an effector of ARL2. NA Belongs to the ARL2BP family. Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane PE1 16 +NX_Q9Y2Y1 DNA-directed RNA polymerase III subunit RPC10 108 12336 8.05 0 Nucleoplasm;Cytosol;Nucleolus NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity). NA Belongs to the archaeal RpoM/eukaryotic RPA12/RPB9/RPC11 RNA polymerase family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Cytosolic DNA-sensing pathway;Cytosolic sensors of pathogen-associated DNA;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter PE1 16 +NX_Q9Y2Y4 Zinc finger and BTB domain-containing protein 32 487 52963 9.36 0 Nucleus NA DNA-binding protein that binds to the to a 5'-TGTACAGTGT-3' core sequence. May function as a transcriptional transactivator and transcriptional repressor. Probably exerts its repressor effect by preventing GATA3 from binding to DNA. May play a role in regulating the differentiation and activation of helper T-cells (By similarity). NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q9Y2Y6 Transmembrane protein 98 226 24611 4.81 1 Extracellular exosome;Endoplasmic reticulum membrane;Cell membrane;Secreted;Nucleoplasm;Endosome Nanophthalmos 4 Functions as a negative regulator of MYRF in oligodendrocyte differentiation and myelination. Interacts with the C-terminal of MYRF inhibiting MYRF self-cleavage and N-fragment nuclear translocation. The secreted form promotes differentiation of T helper 1 cells (Th1). NA Belongs to the TMEM98 family. NA PE1 17 +NX_Q9Y2Y8 Proteoglycan 3 225 25406 4.69 0 Cytoplasmic granule NA Possesses similar cytotoxic and cytostimulatory activities to PRG2/MBP. In vitro, stimulates neutrophil superoxide production and IL8 release, and histamine and leukotriene C4 release from basophils. NA NA Neutrophil degranulation PE1 11 +NX_Q9Y2Y9 Krueppel-like factor 13 288 31180 9.63 0 Nucleus NA Represses transcription by binding to the BTE site, a GC-rich DNA element, in competition with the activator SP1. It also represses transcription by interacting with the corepressor Sin3A and HDAC1. Activates RANTES expression in T-cells. Phosphorylated. Belongs to the Sp1 C2H2-type zinc-finger protein family. NA PE1 15 +NX_Q9Y2Z0 Protein SGT1 homolog 365 41024 5.07 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA May play a role in ubiquitination and subsequent proteasomal degradation of target proteins. Phosphorylated at Ser-281 and Ser-331, dephosphorylation promotes nuclear translocation, most likely due to disruption of the SUGT1-HSP90 complex. Belongs to the SGT1 family. NOD-like receptor signaling pathway;The NLRP3 inflammasome PE1 13 +NX_Q9Y2Z2 Protein MTO1 homolog, mitochondrial 717 79964 8.59 0 Nucleoplasm;Cytosol;Mitochondrion Combined oxidative phosphorylation deficiency 10 Involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs. NA Belongs to the MnmG family. tRNA modification in the mitochondrion PE1 6 +NX_Q9Y2Z4 Tyrosine--tRNA ligase, mitochondrial 477 53199 9.07 0 Mitochondrion matrix;Mitochondrion;Nucleus Myopathy with lactic acidosis and sideroblastic anemia 2 Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr). NA Belongs to the class-I aminoacyl-tRNA synthetase family. Aminoacyl-tRNA biosynthesis;Mitochondrial tRNA aminoacylation PE1 12 +NX_Q9Y2Z9 Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial 468 50870 6.81 0 Golgi apparatus;Mitochondrion inner membrane;Cell projection Coenzyme Q10 deficiency, primary, 6 FAD-dependent monooxygenase required for the C5-ring hydroxylation during ubiquinone biosynthesis. Catalyzes the hydroxylation of 3-hexaprenyl-4-hydroxybenzoic acid (HHB) to 3-hexaprenyl-4,5-dihydroxybenzoic acid (DHHB). The electrons required for the hydroxylation reaction may be funneled indirectly from NADPH via a ferredoxin/ferredoxin reductase system to COQ6 (By similarity). Is able to perform the deamination reaction at C4 of 3-hexaprenyl-4-amino-5-hydroxybenzoic acid (HHAB) to produce DHHB when expressed in yeast cells lacking COQ9, even if utilization of para-aminobenzoic acid (pABA) involving C4-deamination seems not to occur in bacteria, plants and mammals, where only C5 hydroxylation of HHB has been shown (PubMed:26260787). NA Belongs to the UbiH/COQ6 family. Cofactor biosynthesis; ubiquinone biosynthesis.;Ubiquinone and other terpenoid-quinone biosynthesis;Metabolic pathways;Ubiquinol biosynthesis PE1 14 +NX_Q9Y303 N-acetylglucosamine-6-phosphate deacetylase 409 43748 6.21 0 Cytosol;Nucleolus NA Hydrolyzes the N-glycolyl group from N-glycolylglucosamine 6-phosphate (GlcNGc-6-P) in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded. NA Belongs to the metallo-dependent hydrolases superfamily. NagA family. Amino-sugar metabolism; N-acetylneuraminate degradation.;Amino sugar and nucleotide sugar metabolism;Synthesis of UDP-N-acetyl-glucosamine PE1 16 +NX_Q9Y305 Acyl-coenzyme A thioesterase 9, mitochondrial 439 49902 8.81 0 Nucleoplasm;Cytosol;Mitochondrion;Cell membrane NA Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Active on long chain acyl-CoAs. NA Belongs to the acyl coenzyme A hydrolase family. Mitochondrial Fatty Acid Beta-Oxidation PE1 X +NX_Q9Y312 Protein AAR2 homolog 384 43472 5.66 0 Cytosol NA Component of the U5 snRNP complex that is required for spliceosome assembly and for pre-mRNA splicing. NA Belongs to the AAR2 family. NA PE1 20 +NX_Q9Y314 Nitric oxide synthase-interacting protein 301 33172 9.05 0 Nucleoplasm;Cytoplasm;Nucleus NA E3 ubiquitin-protein ligase that is essential for proper development of the forebrain, the eye, and the face. Catalyzes monoubiquitination of serine/threonine-protein phosphatase 2A (PP2A) catalytic subunit PPP2CA/PPP2CB (By similarity). Negatively regulates nitric oxide production by inducing NOS1 and NOS3 translocation to actin cytoskeleton and inhibiting their enzymatic activity (PubMed:11149895, PubMed:15548660, PubMed:16135813). NA Belongs to the NOSIP family. NOSIP mediated eNOS trafficking PE1 19 +NX_Q9Y315 Deoxyribose-phosphate aldolase 318 35231 9.08 0 Nucleoplasm;Cytoplasm;Cytoplasmic granule;Nucleus NA Catalyzes a reversible aldol reaction between acetaldehyde and D-glyceraldehyde 3-phosphate to generate 2-deoxy-D-ribose 5-phosphate. Participates in stress granule (SG) assembly. May allow ATP production from extracellular deoxyinosine in conditions of energy deprivation. NA Belongs to the DeoC/FbaB aldolase family. DeoC type 2 subfamily. Carbohydrate degradation; 2-deoxy-D-ribose 1-phosphate degradation; D-glyceraldehyde 3-phosphate and acetaldehyde from 2-deoxy-alpha-D-ribose 1-phosphate: step 2/2.;Pentose phosphate pathway;Pentose phosphate pathway;Neutrophil degranulation PE1 12 +NX_Q9Y316 Protein MEMO1 297 33733 6.66 0 Cytoplasmic vesicle NA May control cell migration by relaying extracellular chemotactic signals to the microtubule cytoskeleton. Mediator of ERBB2 signaling. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization. Is required for breast carcinoma cell migration. NA Belongs to the MEMO1 family. ERBB2 Regulates Cell Motility PE1 2 +NX_Q9Y320 Thioredoxin-related transmembrane protein 2 296 34038 8.9 1 Membrane;Nucleoplasm;Cytosol NA NA NA NA NA PE1 11 +NX_Q9Y324 rRNA-processing protein FCF1 homolog 198 23370 9.74 0 Nucleoplasm;Nucleolus NA Essential protein involved in pre-rRNA processing and 40S ribosomal subunit assembly. NA Belongs to the UTP23/FCF1 family. FCF1 subfamily. Ribosome biogenesis in eukaryotes;Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 14 +NX_Q9Y328 Neuronal vesicle trafficking-associated protein 2 171 19085 9.42 1 Golgi apparatus;Endosome membrane;trans-Golgi network membrane;Golgi stack membrane;Cytoplasmic vesicle membrane;Membrane;Lysosome lumen;Early endosome membrane;Dendrite;Multivesicular body membrane;Late endosome membrane NA NA NA Belongs to the NSG family. NA PE1 5 +NX_Q9Y330 Zinc finger and BTB domain-containing protein 12 459 49148 7.26 0 Nucleoplasm;Nucleus NA May be involved in transcriptional regulation. NA NA NA PE1 6 +NX_Q9Y333 U6 snRNA-associated Sm-like protein LSm2 95 10835 6.05 0 Nucleoplasm;Nucleus NA Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320). NA Belongs to the snRNP Sm proteins family. RNA degradation;Spliceosome;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway;mRNA decay by 5' to 3' exoribonuclease PE1 6 +NX_Q9Y334 von Willebrand factor A domain-containing protein 7 891 96060 5.74 0 Cytosol;Secreted;Cell membrane NA NA NA NA NA PE1 6 +NX_Q9Y336 Sialic acid-binding Ig-like lectin 9 463 50082 6.86 1 Membrane NA Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- or alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. NA Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Neutrophil degranulation PE1 19 +NX_Q9Y337 Kallikrein-5 293 32020 8.64 0 Secreted NA May be involved in desquamation. NA Belongs to the peptidase S1 family. Kallikrein subfamily. Formation of the cornified envelope PE1 19 +NX_Q9Y342 Plasmolipin 182 19987 9.43 4 Membrane NA Appears to be involved in myelination. Could also participate in ion transport events as addition of plasmolipin to lipid bilayers induces the formation of ion channels, which are voltage-dependent and K(+)-selective (By similarity). NA Belongs to the MAL family. NA PE1 16 +NX_Q9Y343 Sorting nexin-24 169 19818 6.71 0 Cytoplasmic vesicle membrane;Cytoplasmic vesicle NA May be involved in several stages of intracellular trafficking. NA Belongs to the sorting nexin family. NA PE1 5 +NX_Q9Y345 Sodium- and chloride-dependent glycine transporter 2 797 87434 7.68 12 Cell membrane Hyperekplexia 3 Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses. NA Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A5 subfamily. Na+/Cl- dependent neurotransmitter transporters;Defective SLC6A5 causes hyperekplexia 3 (HKPX3) PE1 11 +NX_Q9Y365 START domain-containing protein 10 291 33049 6.67 0 Membrane;Cytoplasm;Cytosol;Flagellum NA May play metabolic roles in sperm maturation or fertilization (By similarity). Phospholipid transfer protein that preferentially selects lipid species containing a palmitoyl or stearoyl chain on the sn-1 and an unsaturated fatty acyl chain (18:1 or 18:2) on the sn-2 position. Able to transfer phosphatidylcholine (PC) and phosphatidyetanolamline (PE) between membranes. Phosphorylation at Ser-284 by CK2 negatively regulates lipid transfer activity, possibly by decreasing membrane association. NA Synthesis of PC PE1 11 +NX_Q9Y366 Intraflagellar transport protein 52 homolog 437 49706 5.14 0 Cytosol;Cilium Short-rib thoracic dysplasia 16 with or without polydactyly Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia (PubMed:27466190). Required for the anterograde transport of IFT88 (PubMed:27466190). NA NA Intraflagellar transport;Hedgehog 'off' state PE1 20 +NX_Q9Y371 Endophilin-B1 365 40796 5.78 0 Mitochondrion outer membrane;Cytoplasm;Autophagosome membrane;Golgi apparatus membrane;Cytosol;Midbody NA Acts antiapoptotic in neuronal cells; involved in maintenance of mitochondrial morphology and promotes neuronal viability (By similarity).;May be required for normal outer mitochondrial membrane dynamics (PubMed:15452144). Required for coatomer-mediated retrograde transport in certain cells (By similarity). May recruit other proteins to membranes with high curvature. May promote membrane fusion (PubMed:11604418). Involved in activation of caspase-dependent apoptosis by promoting BAX/BAK1 activation (PubMed:16227588).;Acts proapoptotic in fibroblasts (By similarity). Involved in caspase-independent apoptosis during nutrition starvation and involved in the regulation of autophagy. Activates lipid kinase activity of PIK3C3 during autophagy probably by associating with the PI3K complex II (PI3KC3-C2) (PubMed:17891140). Associated with PI3KC3-C2 during autophagy may regulate the trafficking of ATG9A from the Golgi complex to the peripheral cytoplasm for the formation of autophagosomes by inducing Golgi membrane tubulation and fragmentation (PubMed:21068542). Involved in regulation of degradative endocytic trafficking and cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123). Phosphorylated at Thr-145 by CDK5; this phosphorylation is required for autophagy induction in starved neurons and facilitates homodimerization. Belongs to the endophilin family. Endocytosis PE1 1 +NX_Q9Y375 Complex I intermediate-associated protein 30, mitochondrial 327 37764 7.11 0 Mitochondrion matrix;Mitochondrion;Cytosol Mitochondrial complex I deficiency, nuclear type 11 Chaperone protein involved in early stages of the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). NA Belongs to the CIA30 family. Complex I biogenesis PE1 15 +NX_Q9Y376 Calcium-binding protein 39 341 39869 6.43 0 Cytoplasm;Cytosol;Nucleolus NA Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1. NA Belongs to the Mo25 family. mTOR signaling pathway;Energy dependent regulation of mTOR by LKB1-AMPK;Neutrophil degranulation PE1 2 +NX_Q9Y383 Putative RNA-binding protein Luc7-like 2 392 46514 10.02 0 Nucleoplasm;Nucleus speckle;Nucleus NA May bind to RNA via its Arg/Ser-rich domain. NA Belongs to the Luc7 family. NA PE1 7 +NX_Q9Y385 Ubiquitin-conjugating enzyme E2 J1 318 35199 6.26 1 Endoplasmic reticulum membrane NA Catalyzes the covalent attachment of ubiquitin to other proteins. Functions in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD). NA Belongs to the ubiquitin-conjugating enzyme family. Protein modification; protein ubiquitination.;Ubiquitin mediated proteolysis;Protein processing in endoplasmic reticulum;Parkinson's disease;Antigen processing: Ubiquitination & Proteasome degradation PE1 6 +NX_Q9Y388 RNA-binding motif protein, X-linked 2 322 37336 9.84 0 Nucleolus;Nucleus membrane;Nucleus NA Involved in pre-mRNA splicing as component of the activated spliceosome. NA Belongs to the IST3 family. NA PE1 X +NX_Q9Y394 Dehydrogenase/reductase SDR family member 7 339 38299 8.59 0 Nucleoplasm;Mitochondrion NA NA NA Belongs to the short-chain dehydrogenases/reductases (SDR) family. NA PE1 14 +NX_Q9Y397 Palmitoyltransferase ZDHHC9 364 40916 8.12 4 Golgi apparatus;Endoplasmic reticulum membrane;Endoplasmic reticulum;Golgi apparatus membrane;Cytosol Mental retardation, X-linked, syndromic, ZDHHC9-related The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS. NA Belongs to the DHHC palmitoyltransferase family. ERF2/ZDHHC9 subfamily. NA PE1 X +NX_Q9Y399 28S ribosomal protein S2, mitochondrial 296 33249 9.37 0 Mitochondrion Combined oxidative phosphorylation deficiency 36 Required for mitoribosome formation and stability, and mitochondrial translation. NA Belongs to the universal ribosomal protein uS2 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 9 +NX_Q9Y3A0 Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial 265 29657 9.29 0 Mitochondrion inner membrane;Mitochondrion Coenzyme Q10 deficiency, primary, 7 Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides. NA Belongs to the COQ4 family. Cofactor biosynthesis; ubiquinone biosynthesis. PE1 9 +NX_Q9Y3A2 Probable U3 small nucleolar RNA-associated protein 11 253 30447 10.16 0 Nucleoplasm;Nucleolus NA Involved in nucleolar processing of pre-18S ribosomal RNA. NA Belongs to the UTP11 family. rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 1 +NX_Q9Y3A3 MOB-like protein phocein 225 26032 5.5 0 Golgi stack membrane;Golgi apparatus;Membrane;Perinuclear region NA May play a role in membrane trafficking, specifically in membrane budding reactions. Phosphorylated on serine residues. Belongs to the MOB1/phocein family. NA PE1 2 +NX_Q9Y3A4 Ribosomal RNA-processing protein 7 homolog A 280 32334 9.61 0 NA NA NA NA Belongs to the RRP7 family. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 22 +NX_Q9Y3A5 Ribosome maturation protein SBDS 250 28764 8.91 0 Cytoplasm;Nucleolus;Nucleoplasm;Cytosol;Spindle Shwachman-Diamond syndrome 1 Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell proliferation. NA Belongs to the SDO1/SBDS family. Ribosome biogenesis in eukaryotes PE1 7 +NX_Q9Y3A6 Transmembrane emp24 domain-containing protein 5 229 26005 4.71 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;cis-Golgi network membrane;Endoplasmic reticulum membrane NA Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Required for the maintenance of the Golgi apparatus; involved in protein exchange between Golgi stacks during assembly. Probably not required for COPI-vesicle-mediated retrograde transport. NA Belongs to the EMP24/GP25L family. WNT ligand biogenesis and trafficking PE1 1 +NX_Q9Y3B1 PRELI domain containing protein 3B 194 21495 6.24 0 Nucleoplasm NA NA NA Belongs to the slowmo family. NA PE1 20 +NX_Q9Y3B2 Exosome complex component CSL4 195 21452 8.51 0 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC1 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC6 and EXOSC8. NA Belongs to the CSL4 family. RNA degradation;ATF4 activates genes in response to endoplasmic reticulum stress;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA;KSRP (KHSRP) binds and destabilizes mRNA;mRNA decay by 3' to 5' exoribonuclease;Major pathway of rRNA processing in the nucleolus and cytosol PE1 10 +NX_Q9Y3B3 Transmembrane emp24 domain-containing protein 7 224 25172 6.43 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane;cis-Golgi network membrane;COPI-coated vesicle membrane;COPII-coated vesicle membrane NA Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Appears to play a role in the biosynthesis of secreted cargo including processing and post-translational modifications. N-linked glycosylated in complex form containing terminal sialic acid. Belongs to the EMP24/GP25L family. COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 5 +NX_Q9Y3B4 Splicing factor 3B subunit 6 125 14585 9.41 0 Nucleoplasm;Nucleus NA Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643). SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA (PubMed:12234937). Directly contacts the pre-mRNA branch site adenosine for the first catalytic step of splicing (PubMed:16432215). Enters the spliceosome and associates with the pre-mRNA branch site as part of the 17S U2 or, in the case of the minor spliceosome, as part of the 18S U11/U12 snRNP complex, and thus may facilitate the interaction of these snRNP with the branch sites of U2 and U12 respectively (PubMed:16432215). NA Belongs to the SF3B6 family. Spliceosome;mRNA Splicing - Major Pathway;mRNA Splicing - Minor Pathway PE1 2 +NX_Q9Y3B6 ER membrane protein complex subunit 9 208 23061 5.53 0 Golgi apparatus;Cytoplasm NA NA NA Belongs to the EMC8/EMC9 family. NA PE1 14 +NX_Q9Y3B7 39S ribosomal protein L11, mitochondrial 192 20683 9.91 0 Mitochondrion NA NA NA Belongs to the universal ribosomal protein uL11 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 11 +NX_Q9Y3B8 Oligoribonuclease, mitochondrial 237 26833 6.4 0 Cytoplasm;Mitochondrion;Mitochondrion matrix;Mitochondrion intermembrane space;Focal adhesion;Nucleolus;Nucleus NA 3'-to-5' exoribonuclease specific for small oligoribonucleotides. Active on small (primarily </=5 nucleotides in length) single-stranded RNA and DNA oligomers. May have a role in cellular nucleotide recycling. NA Belongs to the oligoribonuclease family. Ribosome biogenesis in eukaryotes PE1 11 +NX_Q9Y3B9 RRP15-like protein 282 31484 5.39 0 Cytoplasm;Nucleoplasm;Mitochondrion;Nucleolus NA NA Citrullinated by PADI4. Belongs to the RRP15 family. NA PE1 1 +NX_Q9Y3C0 WASH complex subunit 3 194 21173 4.35 0 Cytoplasmic vesicle;Early endosome NA Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093). NA Belongs to the CCDC53 family. NA PE1 12 +NX_Q9Y3C1 Nucleolar protein 16 178 21188 9.94 0 Nucleolus NA NA NA Belongs to the NOP16 family. NA PE1 5 +NX_Q9Y3C4 EKC/KEOPS complex subunit TPRKB 175 19661 6.31 0 Cytosol;Nucleus Galloway-Mowat syndrome 5 Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:22912744, PubMed:28805828). The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:22912744, PubMed:28805828). TPRKB acts as an allosteric effector that regulates the t(6)A activity of the complex. TPRKB is not required for tRNA modification (PubMed:22912744, PubMed:28805828). NA Belongs to the CGI121/TPRKB family. tRNA modification in the nucleus and cytosol PE1 2 +NX_Q9Y3C5 RING finger protein 11 154 17444 4.64 0 Recycling endosome;Cytoplasm;Early endosome;Nucleus NA Essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signaling pathways. Promotes the association of TNFAIP3 to RIPK1 after TNF stimulation. TNFAIP3 deubiquitinates 'Lys-63' polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys-48'-polyubiquitin chains. This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NF-kappa-B. Recruits STAMBP to the E3 ubiquitin-ligase SMURF2 for ubiquitination, leading to its degradation by the 26S proteasome. Ubiquitinated in the presence of ITCH, or SMURF2, and UBE2D1, as well as WWP1.;Acylation at both Gly-2 and Cys-4 is required for proper localization to the endosomes.;Phosphorylation by PKB/AKT1 may accelerate degradation by the proteasome. NA NA PE1 1 +NX_Q9Y3C6 Peptidyl-prolyl cis-trans isomerase-like 1 166 18237 7.78 0 Nucleolus;Nucleus NA Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (PubMed:16595688). NA Belongs to the cyclophilin-type PPIase family. PPIL1 subfamily. Spliceosome;mRNA Splicing - Major Pathway PE1 6 +NX_Q9Y3C7 Mediator of RNA polymerase II transcription subunit 31 131 15805 8.72 0 Nucleoplasm;Nucleus NA Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. NA Belongs to the Mediator complex subunit 31 family. Generic Transcription Pathway;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation PE1 17 +NX_Q9Y3C8 Ubiquitin-fold modifier-conjugating enzyme 1 167 19458 6.91 0 Cytosol;Nucleus speckle Neurodevelopmental disorder with spasticity and poor growth E2-like enzyme which forms an intermediate with UFM1 via a thioester linkage. NA Belongs to the ubiquitin-conjugating enzyme family. UFC1 subfamily. NA PE1 1 +NX_Q9Y3D0 Cytosolic iron-sulfur assembly component 2B 163 17663 5.07 0 Nucleoplasm;Cytosol;Spindle;Nucleus NA Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins (PubMed:23891004, PubMed:22678362, PubMed:22678361). As a CIA complex component and in collaboration with CIAO1 and MMS19, binds to and facilitates the assembly of most cytosolic-nuclear Fe/S proteins (PubMed:23891004). As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation, probably by facilitating iron-sulfur cluster assembly into ERCC2/XPD (PubMed:20797633). NA Belongs to the MIP18 family. Cytosolic iron-sulfur cluster assembly PE1 16 +NX_Q9Y3D2 Methionine-R-sulfoxide reductase B2, mitochondrial 182 19536 8.95 0 Mitochondrion NA Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases, methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residue. Upon oxidative stress, may play a role in the preservation of mitochondrial integrity by decreasing the intracellular reactive oxygen species build-up through its scavenging role, hence contributing to cell survival and protein maintenance. NA Belongs to the MsrB Met sulfoxide reductase family. Protein repair PE1 10 +NX_Q9Y3D3 28S ribosomal protein S16, mitochondrial 137 15345 9.59 0 Cytosol;Mitochondrion Combined oxidative phosphorylation deficiency 2 NA NA Belongs to the bacterial ribosomal protein bS16 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 10 +NX_Q9Y3D5 28S ribosomal protein S18c, mitochondrial 142 15850 9.63 0 Mitochondrion NA NA NA Belongs to the bacterial ribosomal protein bS18 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 4 +NX_Q9Y3D6 Mitochondrial fission 1 protein 152 16938 8.84 1 Mitochondrion outer membrane;Peroxisome membrane;Mitochondrion NA Involved in the fragmentation of the mitochondrial network and its perinuclear clustering. Plays a minor role in the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface and mitochondrial fission. Can induce cytochrome c release from the mitochondrion to the cytosol, ultimately leading to apoptosis. Also mediates peroxisomal fission. Ubiquitinated by MARCH5. Belongs to the FIS1 family. Class I peroxisomal membrane protein import PE1 7 +NX_Q9Y3D7 Mitochondrial import inner membrane translocase subunit TIM16 125 13825 9.69 0 Mitochondrion inner membrane Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity. NA Belongs to the TIM16/PAM16 family. Mitochondrial protein import PE1 16 +NX_Q9Y3D8 Adenylate kinase isoenzyme 6 172 20061 4.48 0 Cajal body;Nucleus speckle;Nucleoplasm;Centrosome;Cytosol NA Broad-specificity nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. AMP and dAMP are the preferred substrates, but CMP and dCMP are also good substrates. IMP is phosphorylated to a much lesser extent. All nucleoside triphosphates ATP, GTP, UTP, CTP, dATP, dCTP, dGTP, and TTP are accepted as phosphate donors. CTP is the best phosphate donor, followed by UTP, ATP, GTP and dCTP. May have a role in nuclear energy homeostasis. Has also ATPase activity. May be involved in regulation of Cajal body (CB) formation. NA Belongs to the adenylate kinase family. AK6 subfamily. Ribosome biogenesis in eukaryotes;Basal transcription factors;Interconversion of nucleotide di- and triphosphates PE1 5 +NX_Q9Y3D9 28S ribosomal protein S23, mitochondrial 190 21771 8.94 0 Mitochondrion;Nucleus membrane NA NA NA Belongs to the mitochondrion-specific ribosomal protein mS23 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 17 +NX_Q9Y3E0 Vesicle transport protein GOT1B 138 15426 10.36 4 Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum;Golgi apparatus membrane NA May be involved in fusion of ER-derived transport vesicles with the Golgi complex. NA Belongs to the GOT1 family. NA PE1 12 +NX_Q9Y3E1 Hepatoma-derived growth factor-related protein 3 203 22620 7.7 0 Nucleoplasm;Nucleus NA Enhances DNA synthesis and may play a role in cell proliferation. NA Belongs to the HDGF family. NA PE1 15 +NX_Q9Y3E2 BolA-like protein 1 137 14289 7.82 0 Mitochondrion NA Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins (By similarity). Probably acts together with the monothiol glutaredoxin GLRX5 (PubMed:27532772). May protect cells against oxidative stress (PubMed:22746225). NA Belongs to the BolA/IbaG family. NA PE1 1 +NX_Q9Y3E5 Peptidyl-tRNA hydrolase 2, mitochondrial 179 19194 8.95 0 Mitochondrion Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset The natural substrate for this enzyme may be peptidyl-tRNAs which drop off the ribosome during protein synthesis.;Promotes caspase-independent apoptosis by regulating the function of two transcriptional regulators, AES and TLE1. Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. Belongs to the PTH2 family. Ub-specific processing proteases PE1 17 +NX_Q9Y3E7 Charged multivesicular body protein 3 222 25073 5.1 0 Membrane;Endosome;Late endosome membrane;Cytosol NA Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Selectively binds to phosphatidylinositol 3,5-bisphosphate PtdIns(3,5)P2 and PtdIns(3,4)P2 in preference to other phosphoinositides tested. Involved in late stages of cytokinesis. Plays a role in endosomal sorting/trafficking of EGF receptor.;Prevents stress-mediated cell death and accumulation of reactive oxygen species when expressed in yeast cells. NA Belongs to the SNF7 family. Endocytosis;Macroautophagy;Budding and maturation of HIV virion;Endosomal Sorting Complex Required For Transport (ESCRT);Microautophagy PE1 2 +NX_Q9Y3F1 Putative TAP2-associated 6.5 kDa polypeptide 56 6535 4.49 0 NA NA May be associated with TAP2 isoform activity. NA NA NA PE5 6 +NX_Q9Y3F4 Serine-threonine kinase receptor-associated protein 350 38438 4.98 0 Cytoplasm;Cytosol;Nucleus NA The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. STRAP plays a role in the cellular distribution of the SMN complex. Negatively regulates TGF-beta signaling but positively regulates the PDPK1 kinase activity by enhancing its autophosphorylation and by significantly reducing the association of PDPK1 with 14-3-3 protein. NA Belongs to the WD repeat STRAP family. RNA transport;Downregulation of TGF-beta receptor signaling PE1 12 +NX_Q9Y3I0 tRNA-splicing ligase RtcB homolog 505 55210 6.77 0 Cytoplasm;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Nucleus NA Catalytic subunit of the tRNA-splicing ligase complex that acts by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3',5'-phosphodiester. May act as an RNA ligase with broad substrate specificity, and may function toward other RNAs. NA Belongs to the RtcB family. tRNA processing in the nucleus PE1 22 +NX_Q9Y3I1 F-box only protein 7 522 58503 6.11 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cytosol;Nucleus Parkinson disease 15 Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes BIRC2 and DLGAP5. Plays a role downstream of PINK1 in the clearance of damaged mitochondria via selective autophagy (mitophagy) by targeting PRKN to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 22 +NX_Q9Y3L3 SH3 domain-binding protein 1 701 75713 6.33 0 Adherens junction;Cell projection;Tight junction;Phagocytic cup;Cytosol;Nucleus NA GTPase activating protein (GAP) which specifically converts GTP-bound Rho-type GTPases including RAC1 and CDC42 in their inactive GDP-bound form. By specifically inactivating RAC1 at the leading edge of migrating cells, it regulates the spatiotemporal organization of cell protrusions which is important for proper cell migration (PubMed:21658605). Also negatively regulates CDC42 in the process of actin remodeling and the formation of epithelial cell junctions (PubMed:22891260). Through its GAP activity toward RAC1 and/or CDC42 plays a specific role in phagocytosis of large particles. Specifically recruited by a PI3 kinase/PI3K-dependent mechanism to sites of large particles engagement, inactivates RAC1 and/or CDC42 allowing the reorganization of the underlying actin cytoskeleton required for engulfment (PubMed:26465210). It also plays a role in angiogenesis and the process of repulsive guidance as part of a semaphorin-plexin signaling pathway. Following the binding of PLXND1 to extracellular SEMA3E it dissociates from PLXND1 and inactivates RAC1, inducing the intracellular reorganization of the actin cytoskeleton and the collapse of cells (PubMed:24841563). NA NA NA PE1 22 +NX_Q9Y3L5 Ras-related protein Rap-2c 183 20745 4.87 0 Cytoplasm;Recycling endosome membrane NA Small GTP-binding protein which cycles between a GDP-bound inactive and a GTP-bound active form. May play a role in cytoskeletal rearrangements and regulate cell spreading through activation of the effector TNIK. May play a role in SRE-mediated gene transcription. Palmitoylated. Palmitoylation is required for association with recycling endosome membranes and activation of TNIK. Belongs to the small GTPase superfamily. Ras family. Neutrophil degranulation PE1 X +NX_Q9Y3M2 Protein chibby homolog 1 126 14470 9.09 0 trans-Golgi network;Golgi apparatus;Nucleus speckle;Centriole;Cilium basal body NA Inhibits the Wnt/Wingless pathway by binding to CTNNB1/beta-catenin and inhibiting beta-catenin-mediated transcriptional activation through competition with TCF/LEF transcription factors. Has also been shown to play a role in regulating the intracellular trafficking of polycystin-2/PKD2 and possibly of other intracellular proteins. Promotes adipocyte and cardiomyocyte differentiation. NA Belongs to the chibby family. Deactivation of the beta-catenin transactivating complex PE1 22 +NX_Q9Y3M8 StAR-related lipid transfer protein 13 1113 124967 6.57 0 Mitochondrion membrane;Cytoplasm;Membrane;Lipid droplet NA GTPase-activating protein for RhoA, and perhaps for Cdc42. May be involved in regulation of cytoskeletal reorganization, cell proliferation and cell motility. Acts a tumor suppressor in hepatocellular carcinoma cells. NA NA Rho GTPase cycle PE1 13 +NX_Q9Y3M9 Zinc finger protein 337 751 86875 9.74 0 Nucleus speckle;Nucleus;Cell membrane NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 20 +NX_Q9Y3N9 Olfactory receptor 2W1 320 36101 9.24 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 6 +NX_Q9Y3P4 Rhomboid domain-containing protein 3 386 40484 6.1 5 Membrane;Cytoskeleton NA NA NA NA NA PE1 22 +NX_Q9Y3P8 Signaling threshold-regulating transmembrane adapter 1 196 21126 5.91 1 Cell membrane NA Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells. Involved in positive selection of T-cells. Phosphorylated on tyrosines by LCK, FYN or ZAP70 upon TCR activation; which leads to the recruitment of PTPN11, GRB2 and CSK. NA NA PE1 9 +NX_Q9Y3P9 Rab GTPase-activating protein 1 1069 121737 5.15 0 Cytosol;Centrosome NA May act as a GTPase-activating protein of RAB6A. May play a role in microtubule nucleation by centrosome. May participate in a RAB6A-mediated pathway involved in the metaphase-anaphase transition. NA NA TBC/RABGAPs PE1 9 +NX_Q9Y3Q0 N-acetylated-alpha-linked acidic dipeptidase 2 740 83592 8.56 1 Nucleoplasm;Cell membrane NA Has N-acetylated-alpha-linked-acidic dipeptidase (NAALADase) activity. Also exhibits a dipeptidyl-peptidase IV type activity. Inactivates the peptide neurotransmitter N-acetylaspartylglutamate. NA Belongs to the peptidase M28 family. M28B subfamily. Aspartate and asparagine metabolism PE1 11 +NX_Q9Y3Q3 Transmembrane emp24 domain-containing protein 3 217 24777 5.4 1 Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum membrane;cis-Golgi network membrane;Golgi stack membrane;COPI-coated vesicle membrane NA Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Contributes to the coupled localization of TMED2 and TMED10 in the cis-Golgi network. NA Belongs to the EMP24/GP25L family. COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 15 +NX_Q9Y3Q4 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 1203 129042 9.07 6 Cell membrane Brugada syndrome 8;Sick sinus syndrome 2 Hyperpolarization-activated ion channel with very slow activation and inactivation exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) that regulate the rhythm of heart beat. May contribute to the native pacemaker currents in neurons (Ih). May mediate responses to sour stimuli. NA Belongs to the potassium channel HCN family. HCN channels PE1 15 +NX_Q9Y3Q7 Disintegrin and metalloproteinase domain-containing protein 18 739 82856 7.16 1 Membrane NA Sperm surface membrane protein that may be involved in spermatogenesis and fertilization. This is a non catalytic metalloprotease-like protein (By similarity). The prodomain and the metalloprotease-like domain are cleaved during the epididymal maturation of the spermatozoa. NA NA PE1 8 +NX_Q9Y3Q8 TSC22 domain family protein 4 395 41026 6.69 0 Cytosol;Nucleus NA Transcriptional repressor. NA Belongs to the TSC-22/Dip/Bun family. NA PE1 7 +NX_Q9Y3R0 Glutamate receptor-interacting protein 1 1128 122422 6.03 0 Cytoplasm;Endoplasmic reticulum membrane;Postsynaptic cell membrane;Endomembrane system;Perikaryon;Postsynaptic density;Cytoplasmic vesicle;Dendrite Fraser syndrome 3 May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons (PubMed:10197531). Through complex formation with NSG1, GRIA2 and STX12 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity). NA NA Trafficking of GluR2-containing AMPA receptors PE1 12 +NX_Q9Y3R4 Sialidase-2 380 42254 6.39 0 Cytoplasm NA Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins, oligosaccharides and gangliosides. NA Belongs to the glycosyl hydrolase 33 family. Other glycan degradation;Sphingolipid metabolism;Sialic acid metabolism;Glycosphingolipid metabolism PE1 2 +NX_Q9Y3R5 Protein dopey-2 2298 258230 5.9 0 Nucleoplasm;Mitochondrion;Golgi apparatus membrane NA May be involved in protein traffic between late Golgi and early endosomes. NA Belongs to the dopey family. NA PE1 21 +NX_Q9Y3S1 Serine/threonine-protein kinase WNK2 2297 242676 5.79 0 Cytoplasm;Cytosol;Cell membrane NA Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SLC12A2, SCNN1A, SCNN1B, SCNN1D and SGK1 and inhibits SLC12A5. Negatively regulates the EGF-induced activation of the ERK/MAPK-pathway and the downstream cell cycle progression. Affects MAPK3/MAPK1 activity by modulating the activity of MAP2K1 and this modulation depends on phosphorylation of MAP2K1 by PAK1. WNK2 acts by interfering with the activity of PAK1 by controlling the balance of the activity of upstream regulators of PAK1 activity, RHOA and RAC1, which display reciprocal activity. Autophosphorylated.;Autophosphorylated (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);WNK2 is phosphorylated by WNK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily. Stimuli-sensing channels PE1 9 +NX_Q9Y3S2 Zinc finger protein 330 320 36201 5.79 0 Nucleolus;Centromere;Nucleus NA NA NA Belongs to the NOA36 family. NA PE1 4 +NX_Q9Y3T6 R3H and coiled-coil domain-containing protein 1 440 49092 5.47 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 8 +NX_Q9Y3T9 Nucleolar complex protein 2 homolog 749 84919 5.46 0 Nucleoplasm;Nucleolus;Nucleus NA Acts as an inhibitor of histone acetyltransferase activity; prevents acetylation of all core histones by the EP300/p300 histone acetyltransferase at p53/TP53-regulated target promoters in a histone deacetylases (HDAC)-independent manner. Acts as a transcription corepressor of p53/TP53- and TP63-mediated transactivation of the p21/CDKN1A promoter. Involved in the regulation of p53/TP53-dependent apoptosis. Associates together with TP63 isoform TA*-gamma to the p21/CDKN1A promoter. NA Belongs to the NOC2 family. Regulation of TP53 Activity through Phosphorylation PE1 1 +NX_Q9Y3U8 60S ribosomal protein L36 105 12254 11.59 0 Cytoplasm;Nucleolus;Endoplasmic reticulum;Cytosol;Nucleus NA Component of the large ribosomal subunit. NA Belongs to the eukaryotic ribosomal protein eL36 family. Ribosome;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Formation of a pool of free 40S subunits;GTP hydrolysis and joining of the 60S ribosomal subunit;Peptide chain elongation;SRP-dependent cotranslational protein targeting to membrane;Viral mRNA Translation;Eukaryotic Translation Termination;Major pathway of rRNA processing in the nucleolus and cytosol;Selenocysteine synthesis;Regulation of expression of SLITs and ROBOs PE1 19 +NX_Q9Y3V2 RWD domain-containing protein 3 267 30543 5.81 0 Cytoplasm;Nucleus NA Promotes the sumoylation and transcriptional activity of the glucocorticoid receptor NR3C1 and enhances the interaction of SUMO1 and NR3C1 with UBE2I/UBC9. Has no effect on ubiquitination.;Positively regulate the NF-kappa-B signaling pathway by enhancing the sumoylation of NF-kappa-B inhibitor alpha (NFKBIA), promoting its stabilization which consequently leads to an increased inhibition of NF-kappa-B transcriptional activity.;Enhancer of SUMO conjugation. Via its interaction with UBE2I/UBC9, increases SUMO conjugation to proteins by promoting the binding of E1 and E2 enzymes, thioester linkage between SUMO and UBE2I/UBC9 and transfer of SUMO to specific target proteins which include HIF1A, PIAS, NFKBIA, NR3C1 and TOP1.;Negatively regulate the hypoxia-inducible factor-1 alpha (HIF1A) signaling pathway by increasing the sumoylation of HIF1A, promoting its stabilization, transcriptional activity and the expression of its target gene VEGFA during hypoxia. NA NA SUMO is transferred from E1 to E2 (UBE2I, UBC9) PE1 1 +NX_Q9Y3X0 Coiled-coil domain-containing protein 9 531 59703 5.32 0 Cytoplasm;Cytosol NA NA NA NA NA PE1 19 +NX_Q9Y3Y2 Chromatin target of PRMT1 protein 248 26397 12.24 0 Nucleoplasm;Nucleolus;Nucleus speckle;Nucleus NA Plays an important role in the ligand-dependent activation of estrogen receptor target genes (PubMed:19858291). May play a role in the silencing of fetal globin genes (PubMed:20688955). Recruits the 5FMC complex to ZNF148, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (By similarity). Plays an important role in the tumorigenicity of glioblastoma cells. Binds to 5-hydroxymethylcytosine (5hmC) and associates with the methylosome complex containing PRMT1, PRMT5, MEP50 and ERH. The CHTOP-methylosome complex associated with 5hmC is recruited to selective sites on the chromosome, where it methylates H4R3 and activates the transcription of genes involved in glioblastomagenesis (PubMed:25284789).;Required for effective mRNA nuclear export and is a component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Stimulates DDX39B ATPase and helicase activities. In cooperation with ALYREF/THOC4 enhances NXF1 RNA binding activity (PubMed:23299939). Asymmetrically methylated by PRMT1 (PubMed:25284789). Symmetrically methylated by PRMT5 (By similarity). NA Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA 3'-end processing;RNA Polymerase II Transcription Termination PE1 1 +NX_Q9Y3Y4 Pygopus homolog 1 419 45116 6.38 0 Nucleoplasm;Cytosol;Nucleus NA Involved in signal transduction through the Wnt pathway. NA NA Formation of the beta-catenin:TCF transactivating complex;Deactivation of the beta-catenin transactivating complex PE1 15 +NX_Q9Y3Z3 Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 626 72201 6.69 0 Nucleoplasm;Cell membrane;Nucleus;Chromosome Aicardi-Goutieres syndrome 5;Chilblain lupus 2 Protein that acts both as a host restriction factor involved in defense response to virus and as a regulator of DNA end resection at stalled replication forks (PubMed:19525956, PubMed:21613998, PubMed:21720370, PubMed:23602554, PubMed:23601106, PubMed:22056990, PubMed:24336198, PubMed:26294762, PubMed:26431200, PubMed:28229507, PubMed:28834754, PubMed:29670289). Has deoxynucleoside triphosphate (dNTPase) activity, which is required to restrict infection by viruses, such as HIV-1: dNTPase activity reduces cellular dNTP levels to levels too low for retroviral reverse transcription to occur, blocking early-stage virus replication in dendritic and other myeloid cells (PubMed:19525956, PubMed:21613998, PubMed:21720370, PubMed:23602554, PubMed:23601106, PubMed:23364794, PubMed:25038827, PubMed:26101257, PubMed:22056990, PubMed:24336198, PubMed:28229507, PubMed:26294762, PubMed:26431200). Likewise, suppresses LINE-1 retrotransposon activity (PubMed:24035396, PubMed:29610582, PubMed:24217394). Not able to restrict infection by HIV-2 virus; because restriction activity is counteracted by HIV-2 viral protein Vpx (PubMed:21613998, PubMed:21720370). In addition to virus restriction, dNTPase activity acts as a regulator of DNA precursor pools by regulating dNTP pools (PubMed:23858451). Phosphorylation at Thr-592 acts as a switch to control dNTPase-dependent and -independent functions: it inhibits dNTPase activity and ability to restrict infection by viruses, while it promotes DNA end resection at stalled replication forks (PubMed:23602554, PubMed:23601106, PubMed:29610582, PubMed:29670289). Functions during S phase at stalled DNA replication forks to promote the resection of gapped or reversed forks: acts by stimulating the exonuclease activity of MRE11, activating the ATR-CHK1 pathway and allowing the forks to restart replication (PubMed:29670289). Its ability to promote degradation of nascent DNA at stalled replication forks is required to prevent induction of type I interferons, thereby preventing chronic inflammation (PubMed:27477283, PubMed:29670289). Ability to promote DNA end resection at stalled replication forks is independent of dNTPase activity (PubMed:29670289). Enhances immunoglobulin hypermutation in B-lymphocytes by promoting transversion mutation (By similarity). Phosphorylation at Thr-592 by CDK1 acts as a switch to control deoxynucleoside triphosphate (dNTPase)-dependent and -independent functions (PubMed:29670289). Phosphorylation at Thr-592 takes place in cycling cells: it reduces the stability of the homotetramer, impairing the dNTPase activity and subsequent ability to restrict infection by viruses (PubMed:23602554, PubMed:23601106, PubMed:26294762, PubMed:26431200). It also inhibits ability to suppress LINE-1 retrotransposon activity (PubMed:29610582). In contrast, phosphorylation at Thr-592 promotes DNA end resection at stalled replication forks in response to DNA damage (PubMed:29670289).;(Microbial infection) Ubiquitinated following interaction with HIV-2 viral protein Vpx; Vpx promotes interaction and with a DCX (DDB1-CUL4-X-box) E3 ubiquitin ligase, leading to proteasomal degradation. Belongs to the SAMHD1 family. Interferon alpha/beta signaling;Nucleobase catabolism PE1 20 +NX_Q9Y421 Protein FAM32A 112 13178 9.99 0 Nucleoplasm;Nucleolus;Nucleus NA But not isoform 2 or isoform 3, may induce G2 arrest and apoptosis. May also increase cell sensitivity to apoptotic stimuli. NA Belongs to the FAM32 family. NA PE1 19 +NX_Q9Y426 C2 domain-containing protein 2 696 75533 6.47 1 Membrane;Nucleoplasm NA NA NA NA NA PE1 21 +NX_Q9Y442 Uncharacterized protein C22orf24 160 17735 8.46 1 Membrane NA NA NA NA NA PE2 22 +NX_Q9Y446 Plakophilin-3 797 87082 9.39 0 Nucleoplasm;Cell junction;Desmosome;Nucleus NA May play a role in junctional plaques. NA Belongs to the beta-catenin family. Formation of the cornified envelope;Keratinization PE1 11 +NX_Q9Y448 Small kinetochore-associated protein 316 35438 5.98 0 Cell membrane;Centriolar satellite;Spindle pole;Nucleus;Spindle;Kinetochore NA Essential component of the mitotic spindle required for faithful chromosome segregation and progression into anaphase (PubMed:19667759). Promotes the metaphase-to-anaphase transition and is required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture (PubMed:19667759, PubMed:22110139). The astrin (SPAG5)-kinastrin (SKAP) complex promotes stable microtubule-kinetochore attachments (PubMed:21402792). Required for kinetochore oscillations and dynamics of microtubule plus-ends during live cell mitosis, possibly by forming a link between spindle microtubule plus-ends and mitotic chromosomes to achieve faithful cell division (PubMed:23035123). May be involved in UV-induced apoptosis via its interaction with PRPF19; however, these results need additional evidences (PubMed:24718257). NA NA NA PE1 15 +NX_Q9Y450 HBS1-like protein 684 75473 6.17 0 Cytosol;Nucleus NA NA NA Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. mRNA surveillance pathway;Legionellosis;mRNA decay by 3' to 5' exoribonuclease PE1 6 +NX_Q9Y458 T-box transcription factor TBX22 520 57910 6.92 0 Nucleus Abruzzo-Erickson syndrome;Cleft palate with or without ankyloglossia, X-linked Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis. NA NA NA PE1 X +NX_Q9Y462 Zinc finger protein 711 761 86245 6.4 0 Nucleoplasm;Nucleus Mental retardation, X-linked 97 Transcription regulator required for brain development. Probably acts as a transcription factor that binds to the promoter of target genes and recruits PHF8 histone demethylase, leading to activate expression of genes involved in neuron development, such as KDM5C. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 X +NX_Q9Y463 Dual specificity tyrosine-phosphorylation-regulated kinase 1B 629 69198 9.25 0 Nucleoplasm;Nucleus Abdominal obesity-metabolic syndrome 3 Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. Enhances the transcriptional activity of TCF1/HNF1A and FOXO1. Inhibits epithelial cell migration. Mediates colon carcinoma cell survival in mitogen-poor environments. Inhibits the SHH and WNT1 pathways, thereby enhancing adipogenesis. In addition, promotes expression of the gluconeogenic enzyme glucose-6-phosphatase (G6PC). Autophosphorylated on tyrosine residues. Phosphorylated by MAP kinase. Tyrosine phosphorylation may be required for dimerization.;DYRK1B is phosphorylated by MAPK14 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);DYRK1B is phosphorylated by MAPK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily. NA PE1 19 +NX_Q9Y466 Nuclear receptor subfamily 2 group E member 1 385 42589 9.18 0 Nucleus NA Orphan receptor that binds DNA as a monomer to hormone response elements (HRE) containing an extended core motif half-site sequence 5'-AAGGTCA-3' in which the 5' flanking nucleotides participate in determining receptor specificity (By similarity). May be required to pattern anterior brain differentiation. Involved in the regulation of retinal development and essential for vision. During retinogenesis, regulates PTEN-Cyclin D expression via binding to the promoter region of PTEN and suppressing its activity (By similarity). May be involved in retinoic acid receptor (RAR) regulation in retinal cells. NA Belongs to the nuclear hormone receptor family. NR2 subfamily. Nuclear Receptor transcription pathway;Regulation of PTEN gene transcription PE1 6 +NX_Q9Y467 Sal-like protein 2 1007 105309 5.89 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle Coloboma, ocular, autosomal recessive Probable transcription factor that plays a role in eye development before, during, and after optic fissure closure. NA Belongs to the sal C2H2-type zinc-finger protein family. NA PE1 14 +NX_Q9Y468 Lethal(3)malignant brain tumor-like protein 1 840 92297 5.65 0 Nucleoplasm;Nucleus NA Polycomb group (PcG) protein that specifically recognizes and binds mono- and dimethyllysine residues on target proteins, therey acting as a 'reader' of a network of post-translational modifications. PcG proteins maintain the transcriptionally repressive state of genes: acts as a chromatin compaction factor by recognizing and binding mono- and dimethylated histone H1b/HIST1H1E at 'Lys-26' (H1bK26me1 and H1bK26me2) and histone H4 at 'Lys-20' (H4K20me1 and H4K20me2), leading to condense chromatin and repress transcription. Recognizes and binds p53/TP53 monomethylated at 'Lys-382', leading to repress p53/TP53-target genes. Also recognizes and binds RB1/RB monomethylated at 'Lys-860'. Participates in the ETV6-mediated repression. Probably plays a role in cell proliferation. Overexpression induces multinucleated cells, suggesting that it is required to accomplish normal mitosis. Ubiquitinated in a VCP/p97-dependent way following DNA damage, leading to its removal from DNA damage sites, promoting accessibility of H4K20me2 mark for DNA repair protein TP53BP1, which is then recruited to DNA damage sites. NA Regulation of TP53 Activity through Methylation PE1 20 +NX_Q9Y471 Inactive cytidine monophosphate-N-acetylneuraminic acid hydroxylase 501 58380 5.96 0 Cytoplasm NA Sialic acids are components of carbohydrate chains of glycoconjugates and are involved in cell-cell recognition and cell-pathogen interactions. That protein has no CMP-N-acetylneuraminate monooxygenase activity and is not able to convert CMP-N-acetylneuraminic acid (CMP-Neu5Ac) into its hydroxylated derivative CMP-N-glycolylneuraminic acid (CMP-Neu5Gc), a sialic acid abundantly expressed at the surface of many cells in vertebrates (PubMed:9624188). However, it may play a role in Wnt signaling (PubMed:19890979). NA Belongs to the CMP-Neu5Ac hydroxylase family. NA PE1 6 +NX_Q9Y473 Zinc finger protein 175 711 81609 8.98 0 Cytoplasm;Nucleoplasm;Cytosol;Nucleus;Cytoskeleton NA Down-regulates the expression of several chemokine receptors. Interferes with HIV-1 replication by suppressing Tat-induced viral LTR promoter activity. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 19 +NX_Q9Y478 5'-AMP-activated protein kinase subunit beta-1 270 30382 5.94 0 Nucleoplasm;Cytosol NA Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Beta non-catalytic subunit acts as a scaffold on which the AMPK complex assembles, via its C-terminus that bridges alpha (PRKAA1 or PRKAA2) and gamma subunits (PRKAG1, PRKAG2 or PRKAG3). Phosphorylated when associated with the catalytic subunit (PRKAA1 or PRKAA2). Phosphorylated by ULK1; leading to negatively regulate AMPK activity and suggesting the existence of a regulatory feedback loop between ULK1 and AMPK. Belongs to the 5'-AMP-activated protein kinase beta subunit family. Insulin signaling pathway;Adipocytokine signaling pathway;Hypertrophic cardiomyopathy (HCM);Macroautophagy;Translocation of SLC2A4 (GLUT4) to the plasma membrane;TP53 Regulates Metabolic Genes;Activation of PPARGC1A (PGC-1alpha) by phosphorylation;Energy dependent regulation of mTOR by LKB1-AMPK;Regulation of TP53 Activity through Phosphorylation;Activation of AMPK downstream of NMDARs;Lipophagy PE1 12 +NX_Q9Y483 Metal-response element-binding transcription factor 2 593 67090 9 0 Nucleoplasm;Nucleus NA Polycomb group (PcG) that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex. Acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting the PRC2 complex, leading to enhance PRC2 H3K27me3 methylation activity. Regulates the transcriptional networks during embryonic stem cell self-renewal and differentiation. Promotes recruitment of the PRC2 complex to the inactive X chromosome in differentiating XX ES cells and PRC2 recruitment to target genes in undifferentiated ES cells. Required to repress Hox genes by enhancing H3K27me3 methylation of the PRC2 complex. In some conditions may act as an inhibitor of PRC2 activity: able to activate the CDKN2A gene and promote cellular senescence by suppressing the catalytic activity of the PRC2 complex locally. Binds to the metal-regulating-element (MRE) of MT1A gene promoter (By similarity). NA Belongs to the Polycomblike family. PRC2 methylates histones and DNA PE1 1 +NX_Q9Y484 WD repeat domain phosphoinositide-interacting protein 4 360 39868 6.74 0 Cytoplasm;Preautophagosomal structure;Nucleolus Neurodegeneration with brain iron accumulation 5 Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:23435086, PubMed:28561066). Activated by the STK11/AMPK signaling pathway upon starvation, WDR45 is involved in autophagosome assembly downstream of WIPI2, regulating the size of forming autophagosomes (PubMed:28561066). Probably recruited to membranes through its PtdIns3P activity (PubMed:28561066). NA Belongs to the WD repeat SVP1 family. Macroautophagy PE1 X +NX_Q9Y485 DmX-like protein 1 3027 337839 5.91 0 Cytosol;Nucleolus NA NA NA NA NA PE1 5 +NX_Q9Y487 V-type proton ATPase 116 kDa subunit a isoform 2 856 98082 6.18 8 Cytosol;Endosome membrane;Cell membrane Wrinkly skin syndrome;Cutis laxa, autosomal recessive, 2A Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633). NA Belongs to the V-ATPase 116 kDa subunit family. Oxidative phosphorylation;Metabolic pathways;Lysosome;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Tuberculosis;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport PE1 12 +NX_Q9Y490 Talin-1 2541 269767 5.77 0 Cell membrane;Centriolar satellite;Focal adhesion;Cell surface;Ruffle membrane;Cytosol;Cytoskeleton NA Probably involved in connections of major cytoskeletal structures to the plasma membrane. High molecular weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell contacts (By similarity). NA NA Focal adhesion;HTLV-I infection;XBP1(S) activates chaperone genes;MAP2K and MAPK activation;SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion;Platelet degranulation;Smooth Muscle Contraction;Integrin alphaIIb beta3 signaling;GRB2:SOS provides linkage to MAPK signaling for Integrins;p130Cas linkage to MAPK signaling for integrins;Signaling by BRAF and RAF fusions;Signaling by moderate kinase activity BRAF mutants;Signaling by high-kinase activity BRAF mutants;Signaling by RAS mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF PE1 9 +NX_Q9Y493 Zonadhesin 2812 305630 5.76 1 Cell membrane NA Binds in a species-specific manner to the zona pellucida of the egg. May be involved in gamete recognition and/or signaling. NA NA NA PE1 7 +NX_Q9Y496 Kinesin-like protein KIF3A 699 80041 6.16 0 Centriole;Cilium;Nucleoplasm;Cytosol;Cytoskeleton NA Microtubule-based anterograde translocator for membranous organelles. Plus end-directed microtubule sliding activity in vitro. Plays a role in primary cilia formation. Plays a role in centriole cohesion and subdistal appendage organization and function. Regulates the formation of the subdistal appendage via recruitment of DCTN1 to the centriole. Also required for ciliary basal feet formation and microtubule anchoring to mother centriole. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin II subfamily. MHC class II antigen presentation;Intraflagellar transport;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Kinesins;Hedgehog 'off' state;Activation of SMO;COPI-dependent Golgi-to-ER retrograde traffic PE1 5 +NX_Q9Y4A0 Jerky protein homolog-like 524 59912 8.26 0 Nucleoplasm;Nucleus;Cytoskeleton NA NA NA Belongs to the tigger transposable element derived protein family. NA PE1 11 +NX_Q9Y4A5 Transformation/transcription domain-associated protein 3859 437600 8.49 0 Golgi apparatus;Nucleoplasm;Nucleus NA Adapter protein, which is found in various multiprotein chromatin complexes with histone acetyltransferase activity (HAT), which gives a specific tag for epigenetic transcription activation. Component of the NuA4 histone acetyltransferase complex which is responsible for acetylation of nucleosomal histones H4 and H2A. Plays a central role in MYC transcription activation, and also participates in cell transformation by MYC. Required for p53/TP53-, E2F1- and E2F4-mediated transcription activation. Also involved in transcription activation mediated by the adenovirus E1A, a viral oncoprotein that deregulates transcription of key genes. Probably acts by linking transcription factors such as E1A, MYC or E2F1 to HAT complexes such as STAGA thereby allowing transcription activation. Probably not required in the steps following histone acetylation in processes of transcription activation. May be required for the mitotic checkpoint and normal cell cycle progression. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome. NA Belongs to the PI3/PI4-kinase family. TRA1 subfamily. HTLV-I infection;HATs acetylate histones;Formation of the beta-catenin:TCF transactivating complex;Ub-specific processing proteases PE1 7 +NX_Q9Y4A8 Nuclear factor erythroid 2-related factor 3 694 76154 5.21 0 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA Activates erythroid-specific, globin gene expression. NA Belongs to the bZIP family. CNC subfamily. NA PE1 7 +NX_Q9Y4A9 Olfactory receptor 10H1 318 35254 9.07 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 19 +NX_Q9Y4B4 Helicase ARIP4 1467 162769 5.75 0 Nucleoplasm;Cytosol;Nucleus NA DNA helicase that modulates androgen receptor (AR)-dependent transactivation in a promoter-dependent manner. Not able to remodel mononucleosomes in vitro (By similarity). Sumoylated. Belongs to the SNF2/RAD54 helicase family. NA PE1 3 +NX_Q9Y4B5 Microtubule cross-linking factor 1 1905 209526 6.03 0 Lateral cell membrane;Spindle pole;Apical cell membrane;Midbody;Cytoskeleton NA Microtubule-associated factor involved in the late phase of epithelial polarization and microtubule dynamics regulation. Plays a role in the development and maintenance of non-centrosomal microtubule bundles at the lateral membrane in polarized epithelial cells. NA Belongs to the SOGA family. NA PE1 18 +NX_Q9Y4B6 DDB1- and CUL4-associated factor 1 1507 169007 4.92 0 Nucleoplasm;Nucleus;Cytoplasm;Nucleolus NA (Microbial infection) In case of infection by HIV-1 virus, it is recruited by HIV-1 Vpr in order to hijack the CUL4A-RBX1-DDB1-DCAF1/VPRBP function leading to arrest the cell cycle in G2 phase, and also to protect the viral protein from proteasomal degradation by another E3 ubiquitin ligase. The HIV-1 Vpr protein hijacks the CUL4A-RBX1-DDB1-DCAF1/VPRBP complex to promote ubiquitination and degradation of proteins such as TERT and ZIP/ZGPAT.;(Microbial infection) In case of infection by HIV-2 virus, it is recruited by HIV-2 Vpx in order to hijack the CUL4A-RBX1-DDB1-DCAF1/VPRBP function leading to enhanced efficiency of macrophage infection and promotion of the replication of cognate primate lentiviruses in cells of monocyte/macrophage lineage.;Acts both as a substrate recognition component of E3 ubiquitin-protein ligase complexes and as an atypical serine/threonine-protein kinase, playing key roles in various processes such as cell cycle, telomerase regulation and histone modification. Probable substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, named CUL4A-RBX1-DDB1-DCAF1/VPRBP complex, which mediates ubiquitination and proteasome-dependent degradation of proteins such as NF2. Involved in the turnover of methylated proteins: recognizes and binds methylated proteins via its chromo domain, leading to ubiquitination of target proteins by the RBX1-DDB1-DCAF1/VPRBP complex (PubMed:23063525). The CUL4A-RBX1-DDB1-DCAF1/VPRBP complex is also involved in B-cell development: DCAF1 is recruited by RAG1 to ubiquitinate proteins, leading to limit error-prone repair during V(D)J recombination. Also part of the EDVP complex, an E3 ligase complex that mediates ubiquitination of proteins such as TERT, leading to TERT degradation and telomerase inhibition (PubMed:23362280). Also acts as an atypical serine/threonine-protein kinase that specifically mediates phosphorylation of 'Thr-120' of histone H2A (H2AT120ph) in a nucleosomal context, thereby repressing transcription. H2AT120ph is present in the regulatory region of many tumor suppresor genes, down-regulates their transcription and is present at high level in a number of tumors (PubMed:24140421). Involved in JNK-mediated apoptosis during cell competition process via its interaction with LLGL1 and LLGL2 (PubMed:20644714). DCAF1 is phosphorylated by ATM;DCAF1 is phosphorylated by ATR Belongs to the VPRBP/DCAF1 family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 3 +NX_Q9Y4C0 Neurexin-3 1643 180599 5.33 1 Membrane NA Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling. NA Belongs to the neurexin family. Cell adhesion molecules (CAMs);Neurexins and neuroligins PE1 14 +NX_Q9Y4C1 Lysine-specific demethylase 3A 1321 147341 8.4 0 Nucleoplasm;Cytoplasm;Nucleus NA Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Preferentially demethylates mono- and dimethylated H3 'Lys-9' residue, with a preference for dimethylated residue, while it has weak or no activity on trimethylated H3 'Lys-9'. Demethylation of Lys residue generates formaldehyde and succinate. Involved in hormone-dependent transcriptional activation, by participating in recruitment to androgen-receptor target genes, resulting in H3 'Lys-9' demethylation and transcriptional activation. Involved in spermatogenesis by regulating expression of target genes such as PRM1 and TNP1 which are required for packaging and condensation of sperm chromatin. Involved in obesity resistance through regulation of metabolic genes such as PPARA and UCP1. NA Belongs to the JHDM2 histone demethylase family. HDMs demethylate histones PE1 2 +NX_Q9Y4C2 TRPM8 channel-associated factor 1 921 102126 6.12 0 Cell membrane NA Positively regulates the plasma membrane cation channel TRPM8 activity. Involved in the recruitment of TRPM8 to the cell surface. Promotes prostate cancer cell migration inhibition in a TRPM8-dependent manner. NA Belongs to the TCAF family. NA PE1 7 +NX_Q9Y4C4 Malignant fibrous histiocytoma-amplified sequence 1 1052 116950 8.02 0 Nucleoplasm;Cytoplasm;Cytosol NA Probable GTP-binding protein (PubMed:24286120). Functions in innate immunity and more specifically the inflammatory response as a regulator of the Toll-like receptor TLR2 and TLR4 signaling pathways (PubMed:26599367, PubMed:28471450, PubMed:28609714). Negatively regulates the part of the TLR4 signaling pathway that leads to the activation of the transcription factor AP-1. By retaining the phosphatase complex PP2A into the cytoplasm, prevents the dephosphorylation of the AP-1 subunit JUN which is required for proper activation of the transcription factor (PubMed:28609714). Both inhibits and activates the TLR2-dependent signaling pathway (PubMed:26599367). Positively regulates the TLR2 signaling pathway to activate specifically the downstream p38 and JNK MAP kinases and promote the polarization of macrophages toward the pro-inflammatory M1 phenotype (PubMed:28471450). It may also play a role in the regulation of inflammation induced by high glucose through the PKB/AKT signaling pathway (PubMed:29168081). Also involved in erythrocyte differentiation through activation of the ERK1/ERK2 signaling pathway (PubMed:23327923). Ubiquitinated. Ubiquitination by PJA2 does not lead MFHAS1 to proteasomal degradation but positively regulates its function in polarization of macrophages. NA NA PE1 8 +NX_Q9Y4C5 Carbohydrate sulfotransferase 2 530 57857 10 1 Golgi apparatus;Nucleoplasm;Cytosol;trans-Golgi network membrane NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues within keratan-like structures on N-linked glycans and within mucin-associated glycans that can ultimately serve as SELL ligands. SELL ligands are present in high endothelial cells (HEVs) and play a central role in lymphocyte homing at sites of inflammation. Participates in biosynthesis of the SELL ligand sialyl 6-sulfo Lewis X and in lymphocyte homing to Peyer patches. Has no activity toward O-linked sugars. Its substrate specificity may be influenced by its subcellular location. Sulfates GlcNAc residues at terminal, non-reducing ends of oligosaccharide chains. Glycosylation at Asn-475 is required for catalytic activity. Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily. Glycosaminoglycan biosynthesis - keratan sulfate;Keratan sulfate biosynthesis PE1 3 +NX_Q9Y4C8 Probable RNA-binding protein 19 960 107332 6.13 0 Cytoplasm;Nucleoplasm;Nucleolus;Chromosome NA Plays a role in embryo pre-implantation development. NA Belongs to the RRM MRD1 family. NA PE1 12 +NX_Q9Y4D1 Disheveled-associated activator of morphogenesis 1 1078 123473 6.81 0 Cytoplasm;Cytosol;Cilium basal body;Cell membrane NA Binds to disheveled (Dvl) and Rho, and mediates Wnt-induced Dvl-Rho complex formation. May play a role as a scaffolding protein to recruit Rho-GDP and Rho-GEF, thereby enhancing Rho-GTP formation. Can direct nucleation and elongation of new actin filaments. Involved in building functional cilia (PubMed:16630611, PubMed:17482208). Involved in the organization of the subapical actin network in multiciliated epithelial cells (By similarity). Together with DAAM2, required for myocardial maturation and sarcomere assembly (By similarity). NA Belongs to the formin homology family. Wnt signaling pathway;RHO GTPases Activate Formins;PCP/CE pathway PE1 14 +NX_Q9Y4D2 Sn1-specific diacylglycerol lipase alpha 1042 114952 5.95 4 Cell membrane Spinocerebellar ataxia 20 Catalyzes the hydrolysis of diacylglycerol (DAG) to 2-arachidonoyl-glycerol (2-AG), the most abundant endocannabinoid in tissues. Required for axonal growth during development and for retrograde synaptic signaling at mature synapses. NA Belongs to the AB hydrolase superfamily. Lipase family. Arachidonate production from DAG PE1 11 +NX_Q9Y4D7 Plexin-D1 1925 212007 6.8 1 Lamellipodium membrane;Cell membrane NA Cell surface receptor for SEMA4A and for class 3 semaphorins, such as SEMA3A, SEMA3C and SEMA3E. Plays an important role in cell-cell signaling, and in regulating the migration of a wide spectrum of cell types. Regulates the migration of thymocytes in the medulla. Regulates endothelial cell migration. Plays an important role in ensuring the specificity of synapse formation. Required for normal development of the heart and vasculature (By similarity). Mediates anti-angiogenic signaling in response to SEMA3E. NA Belongs to the plexin family. Other semaphorin interactions;NOTCH3 Intracellular Domain Regulates Transcription PE1 3 +NX_Q9Y4D8 Probable E3 ubiquitin-protein ligase HECTD4 3996 439344 5.82 1 Membrane;Cytoplasmic vesicle;Nucleoplasm NA E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. NA NA Protein modification; protein ubiquitination. PE1 12 +NX_Q9Y4E1 WASH complex subunit 2C 1320 144911 4.66 0 Early endosome membrane;Cell membrane NA (Microbial infection) Plays a role in fluid-phase endocytosis, a process exploited by vaccinia intracellular mature virus (IMV) to enter cells. As a result, may facilitate the penetration of IMV into cells.;Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex probably promoting localized F-actin polymerization needed for vesicle scission (PubMed:19922874, PubMed:20498093, PubMed:22513087, PubMed:23331060). Via its C-terminus binds various phospholipids, most strongly phosphatidylinositol 4-phosphate (PtdIns-(4)P), phosphatidylinositol 5-phosphate (PtdIns-(5)P) and phosphatidylinositol 3,5-bisphosphate (PtdIns-(3,5)P2). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552). Required for the association of DNAJC13, ENTR1, ANKRD50 with retromer CSC subunit VPS35 (PubMed:24980502). Required for the endosomal recruitment of CCC and retriever complexes subunits COMMD1 and CCDC93 as well as the retrievere complex subunit VPS35L (PubMed:25355947, PubMed:28892079). NA Belongs to the FAM21 family. NA PE1 10 +NX_Q9Y4E5 E3 SUMO-protein ligase ZNF451 1061 121484 6.3 0 Nucleoplasm;Nucleus;PML body NA E3 SUMO-protein ligase; has a preference for SUMO2 and SUMO3 and facilitates UBE2I/UBC9-mediated sumoylation of target proteins (PubMed:26524493, PubMed:26524494). Plays a role in protein SUMO2 modification in response to stress caused by DNA damage and by proteasome inhibitors (in vitro). Required for MCM4 sumoylation (By similarity). Has no activity with SUMO1 (PubMed:26524493). Preferentially transfers an additional SUMO2 chain onto the SUMO2 consensus site 'Lys-11' (PubMed:26524493). Negatively regulates transcriptional activation mediated by the SMAD4 complex in response to TGF-beta signaling. Inhibits EP300-mediated acetylation of histone H3 at 'Lys-9' (PubMed:24324267). Plays a role in regulating the transcription of AR targets (PubMed:18656483). Sumoylated. Predominantly sumoylated on the N-terminal region that is important for interaction with SUMO1 and SUMO2 (PubMed:18656483, PubMed:26524493, PubMed:26524494). Sumoylation is important for localization in nuclear granules; desumoylation leads to diffuse nucleoplasmic location (PubMed:18656483). Autosumoylated (in vitro) (PubMed:26524493, PubMed:26524494). Sumoylation enhances E3 SUMO-protein ligase activity (PubMed:26524494). Belongs to the krueppel C2H2-type zinc-finger protein family. Protein modification; protein sumoylation. PE1 6 +NX_Q9Y4E6 WD repeat-containing protein 7 1490 163810 6.47 0 Nucleoplasm;Cytosol NA NA NA NA NA PE1 18 +NX_Q9Y4E8 Ubiquitin carboxyl-terminal hydrolase 15 981 112419 5.06 0 Cytoplasm;Cytosol;Mitochondrion;Nucleus NA (Microbial infection) Protects APC and human papillomavirus type 16 protein E6 against degradation via the ubiquitin proteasome pathway.;Hydrolase that removes conjugated ubiquitin from target proteins and regulates various pathways such as the TGF-beta receptor signaling, NF-kappa-B and RNF41/NRDP1-PRKN pathways (PubMed:21947082, PubMed:22344298, PubMed:24852371, PubMed:16005295, PubMed:17318178, PubMed:19826004, PubMed:19576224). Acts as a key regulator of TGF-beta receptor signaling pathway, but the precise mechanism is still unclear: according to a report, acts by promoting deubiquitination of monoubiquitinated R-SMADs (SMAD1, SMAD2 and/or SMAD3), thereby alleviating inhibition of R-SMADs and promoting activation of TGF-beta target genes (PubMed:21947082). According to another reports, regulates the TGF-beta receptor signaling pathway by mediating deubiquitination and stabilization of TGFBR1, leading to an enhanced TGF-beta signal (PubMed:22344298). Able to mediate deubiquitination of monoubiquitinated substrates as well as 'Lys-48'-linked polyubiquitin chains, protecting them against proteasomal degradation. May also regulate gene expression and/or DNA repair through the deubiquitination of histone H2B (PubMed:24526689). Acts as an inhibitor of mitophagy by counteracting the action of parkin (PRKN): hydrolyzes cleavage of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains attached by parkin on target proteins such as MFN2, thereby reducing parkin's ability to drive mitophagy (PubMed:24852371). Acts as an associated component of COP9 signalosome complex (CSN) and regulates different pathways via this association: regulates NF-kappa-B by mediating deubiquitination of NFKBIA and deubiquitinates substrates bound to VCP (PubMed:16005295, PubMed:17318178, PubMed:19826004, PubMed:19576224). Involved in endosome organization by mediating deubiquitination of SQSTM1: ubiquitinated SQSTM1 forms a molecular bridge that restrains cognate vesicles in the perinuclear region and its deubiquitination releases target vesicles for fast transport into the cell periphery (PubMed:27368102). Ubiquitinated, leading to degradation by the proteasome.;Phosphorylated. Phosphorylation protects against ubiquitination and subsequent degradation by the proteasome. Belongs to the peptidase C19 family. Downregulation of TGF-beta receptor signaling;UCH proteinases;Ub-specific processing proteases PE1 12 +NX_Q9Y4F1 FERM, ARHGEF and pleckstrin domain-containing protein 1 1045 118633 8.33 0 Dendritic spine;Synaptosome;Cell membrane;Filopodium;Synapse;Cytosol;Dendrite NA Functions as guanine nucleotide exchange factor for RAC1. May play a role in semaphorin signaling. Plays a role in the assembly and disassembly of dendritic filopodia, the formation of dendritic spines, regulation of dendrite length and ultimately the formation of synapses (By similarity). NA NA NA PE1 13 +NX_Q9Y4F3 Meiosis regulator and mRNA stability factor 1 1742 192859 8.14 0 Golgi apparatus;Peroxisome;Cytoplasmic vesicle NA Essential regulator of oogenesis required for female meiotic progression to repress transposable elements and preventing their mobilization, which is essential for the germline integrity. Probably acts via some RNA metabolic process, equivalent to the piRNA system in males, which mediates the repression of transposable elements during meiosis by forming complexes composed of RNAs and governs the methylation and subsequent repression of transposons. Also required to protect from DNA double-strand breaks (By similarity). NA NA NA PE1 16 +NX_Q9Y4F4 TOG array regulator of axonemal microtubules protein 1 1720 189360 8.73 0 Nucleoplasm;Cilium;Cytoskeleton NA Required for normal structure and function of primary cilia. Plays a role in the organization of axoneme microtubule bundles in primary cilia (By similarity). Interacts with microtubules and promotes microtubule polymerization via its HEAT repeat domains, especially those in TOG region 2 and 4 (By similarity). NA Belongs to the Crescerin family. NA PE1 14 +NX_Q9Y4F5 Centrosomal protein of 170 kDa protein B 1589 171688 6.39 0 Cytosol;Centrosome;Cytoskeleton NA Plays a role in microtubule organization. NA Belongs to the CEP170 family. NA PE1 14 +NX_Q9Y4F9 Rho family-interacting cell polarization regulator 2 1068 118519 5.29 0 Cytoplasm;Stereocilium membrane;Filopodium;Stereocilium;Apical cell membrane;Cytoskeleton Deafness, autosomal recessive, 104 Acts as an inhibitor of the small GTPase RHOA and plays several roles in the regulation of myoblast and hair cell differentiation, lymphocyte T proliferation and neutrophil polarization (PubMed:17150207, PubMed:24687993, PubMed:23241886, PubMed:24958875, PubMed:25588844, PubMed:27556504). Inhibits chemokine-induced T lymphocyte responses, such as cell adhesion, polarization and migration (PubMed:23241886). Involved also in the regulation of neutrophil polarization, chemotaxis and adhesion (By similarity). Required for normal development of inner and outer hair cell stereocilia within the cochlea of the inner ear (By similarity). Plays a role for maintaining the structural organization of the basal domain of stereocilia (By similarity). Involved in mechanosensory hair cell function (By similarity). Required for normal hearing (PubMed:24958875).;Acts as an inhibitor of the small GTPase RHOA (PubMed:25588844). Plays a role in fetal mononuclear myoblast differentiation by promoting filopodia and myotube formation (PubMed:17150207). Maintains naive T lymphocytes in a quiescent state (PubMed:27556504). Is phosphorylated in T cells (PubMed:27556504). Chemokine-induced phosphorylation of isoform 2 in neutrophils occurs in a PKC- and AKT-dependent manner, resulting in RIPOR2 interaction with YWHAB and stabilization (PubMed:25588844).;Phosphorylated.;Is phosphorylated by PKCA, AKT1 and MAPKAPK1A; in vitro (PubMed:25588844).;Acetylated during myogenic differentiation. Belongs to the RIPOR family. NA PE1 6 +NX_Q9Y4G2 Pleckstrin homology domain-containing family M member 1 1056 117443 6.08 0 Cytoplasm;Endosome membrane;Lysosome membrane;Nucleolus;Lysosome;Cytoplasmic vesicle Osteopetrosis, autosomal recessive 6;Osteopetrosis, autosomal dominant 3 Proposed to act as a multivalent adapter protein that regulates Rab7-dependent and HOPS complex-dependent fusion events in the endolysosomal system and couples autophagic and the endocytic trafficking pathways. Required for late stages of endolysosomal maturation, facilitating both endocytosis-mediated degradation of growth factor receptors and autophagosome clearance. Seems to be involved in the terminal maturation of autophagosomes and to mediate autophagosome-lysosome fusion (PubMed:25498145). Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity). May be involved in negative regulation of endocytic transport from early endosome to late endosome/lysosome implicating its association with Rab7 (PubMed:20943950). May have a role in sialyl-lex-mediated transduction of apoptotic signals (PubMed:12820725). Involved in bone resorption (By similarity). In case of infection contributes to Salmonella typhimurium pathogenesis by supporting the integrity of the Salmonella-containing vacuole (SCV) probably in concert with the HOPS complex and Rab7 (PubMed:25500191). NA NA NA PE1 17 +NX_Q9Y4G6 Talin-2 2542 271613 5.4 0 Cytoplasm;Cell membrane;Focal adhesion;Synapse;Cytosol;Cytoskeleton NA As a major component of focal adhesion plaques that links integrin to the actin cytoskeleton, may play an important role in cell adhesion. Recruits PIP5K1C to focal adhesion plaques and strongly activates its kinase activity (By similarity). NA NA Focal adhesion;HTLV-I infection PE1 15 +NX_Q9Y4G8 Rap guanine nucleotide exchange factor 2 1499 167417 6.21 0 Cytoplasm;Cell membrane;Cell junction;Nucleoplasm;Centrosome;Late endosome;Cytoplasmic vesicle;Perinuclear region Epilepsy, familial adult myoclonic, 7 Functions as a guanine nucleotide exchange factor (GEF), which activates Rap and Ras family of small GTPases by exchanging bound GDP for free GTP in a cAMP-dependent manner. Serves as a link between cell surface receptors and Rap/Ras GTPases in intracellular signaling cascades. Acts also as an effector for Rap1 by direct association with Rap1-GTP thereby leading to the amplification of Rap1-mediated signaling. Shows weak activity on HRAS. It is controversial whether RAPGEF2 binds cAMP and cGMP (PubMed:23800469, PubMed:10801446) or not (PubMed:10608844, PubMed:10548487, PubMed:11359771). Its binding to ligand-activated beta-1 adrenergic receptor ADRB1 leads to the Ras activation through the G(s)-alpha signaling pathway. Involved in the cAMP-induced Ras and Erk1/2 signaling pathway that leads to sustained inhibition of long term melanogenesis by reducing dendrite extension and melanin synthesis. Provides also inhibitory signals for cell proliferation of melanoma cells and promotes their apoptosis in a cAMP-independent nanner. Regulates cAMP-induced neuritogenesis by mediating the Rap1/B-Raf/ERK signaling through a pathway that is independent on both PKA and RAPGEF3/RAPGEF4. Involved in neuron migration and in the formation of the major forebrain fiber connections forming the corpus callosum, the anterior commissure and the hippocampal commissure during brain development. Involved in neuronal growth factor (NGF)-induced sustained activation of Rap1 at late endosomes and in brain-derived neurotrophic factor (BDNF)-induced axon outgrowth of hippocampal neurons. Plays a role in the regulation of embryonic blood vessel formation and in the establishment of basal junction integrity and endothelial barrier function. May be involved in the regulation of the vascular endothelial growth factor receptor KDR and cadherin CDH5 expression at allantois endothelial cell-cell junctions. Ubiquitinated by NEDD4, leading to proteasomal degradation.;Phosphorylation by PLK2 promotes its activity.;RAPGEF2 is phosphorylated by PLK2 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the RAPGEF2 family. MAPK signaling pathway;RAF/MAP kinase cascade PE1 4 +NX_Q9Y4H2 Insulin receptor substrate 2 1338 137334 8.9 0 Cytosol NA May mediate the control of various cellular processes by insulin. IRS2 is phosphorylated by INSRR (Phosphotyrosine:PTM-0255);IRS2 is phosphorylated by JAK2 (Phosphotyrosine:PTM-0255) NA Neurotrophin signaling pathway;Insulin signaling pathway;Adipocytokine signaling pathway;Type II diabetes mellitus;Aldosterone-regulated sodium reabsorption;RAF/MAP kinase cascade;PI3K Cascade;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Interleukin-7 signaling;Growth hormone receptor signaling;IRS activation;Signal attenuation;IRS-related events triggered by IGF1R;Signaling by Leptin;SOS-mediated signalling;PI3K/AKT activation;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;RET signaling;IRS-mediated signalling;Erythropoietin activates RAS;Erythropoietin activates Phosphoinositide-3-kinase (PI3K);Signaling by Erythropoietin;Erythropoietin activates Phospholipase C gamma (PLCG);Erythropoietin activates STAT5 PE1 13 +NX_Q9Y4H4 G-protein-signaling modulator 3 160 17866 4.95 0 Cytoplasm NA Interacts with subunit of G(i) alpha proteins and regulates the activation of G(i) alpha proteins. NA NA G alpha (i) signalling events PE1 6 +NX_Q9Y4I1 Unconventional myosin-Va 1855 215405 8.7 0 Centriolar satellite;Focal adhesion Griscelli syndrome 3;Griscelli syndrome 1;Elejalde syndrome Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Regulation of actin dynamics for phagocytic cup formation;Translocation of SLC2A4 (GLUT4) to the plasma membrane;Insulin processing PE1 15 +NX_Q9Y4I5 Tesmin 508 55025 5.5 0 Cytoplasm;Nucleoplasm;Nucleus NA May have a role in spermatogenesis. NA Belongs to the lin-54 family. NA PE1 11 +NX_Q9Y4J8 Dystrobrevin alpha 743 83901 6.43 0 Cytoplasm;Cell membrane;Cell junction;Nucleoplasm;Synapse;Cytoskeleton Left ventricular non-compaction 1 May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors. Phosphorylation of DTN-1 on tyrosine kinase substrate domain present in the C-terminus. Belongs to the dystrophin family. Dystrobrevin subfamily. NA PE1 18 +NX_Q9Y4K0 Lysyl oxidase homolog 2 774 86725 5.95 0 Cytoplasm;Chromosome;Endoplasmic reticulum;Nucleoplasm;Basement membrane;Nucleus NA Mediates the post-translational oxidative deamination of lysine residues on target proteins leading to the formation of deaminated lysine (allysine) (PubMed:27735137). Acts as a transcription corepressor and specifically mediates deamination of trimethylated 'Lys-4' of histone H3 (H3K4me3), a specific tag for epigenetic transcriptional activation (PubMed:27735137). Shows no activity against histone H3 when it is trimethylated on 'Lys-9' (H3K9me3) or 'Lys-27' (H3K27me3) or when 'Lys-4' is monomethylated (H3K4me1) or dimethylated (H3K4me2) (PubMed:27735137). Also mediates deamination of methylated TAF10, a member of the transcription factor IID (TFIID) complex, which induces release of TAF10 from promoters, leading to inhibition of TFIID-dependent transcription (PubMed:25959397). LOXL2-mediated deamination of TAF10 results in transcriptional repression of genes required for embryonic stem cell pluripotency including POU5F1/OCT4, NANOG, KLF4 and SOX2 (By similarity). Involved in epithelial to mesenchymal transition (EMT) via interaction with SNAI1 and participates in repression of E-cadherin CDH1, probably by mediating deamination of histone H3 (PubMed:16096638, PubMed:27735137, PubMed:24414204). During EMT, involved with SNAI1 in negatively regulating pericentromeric heterochromatin transcription (PubMed:24239292). SNAI1 recruits LOXL2 to pericentromeric regions to oxidize histone H3 and repress transcription which leads to release of heterochromatin component CBX5/HP1A, enabling chromatin reorganization and acquisition of mesenchymal traits (PubMed:24239292). Interacts with the endoplasmic reticulum protein HSPA5 which activates the IRE1-XBP1 pathway of the unfolded protein response, leading to expression of several transcription factors involved in EMT and subsequent EMT induction (PubMed:28332555). Involved in E-cadherin repression following hypoxia, a hallmark of EMT believed to amplify tumor aggressiveness, suggesting that it may play a role in tumor progression (PubMed:20026874). When secreted into the extracellular matrix, promotes cross-linking of extracellular matrix proteins by mediating oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin (PubMed:20306300). Acts as a regulator of sprouting angiogenesis, probably via collagen IV scaffolding (PubMed:21835952). Acts as a regulator of chondrocyte differentiation, probably by regulating expression of factors that control chondrocyte differentiation (By similarity). N-glycosylated. N-glycosylation on Asn-455 and Asn-644 may be essential for proper folding and secretion; may be composed of a fucosylated carbohydrates attached to a trimannose N-linked glycan core.;The lysine tyrosylquinone cross-link (LTQ) is generated by condensation of the epsilon-amino group of a lysine with a topaquinone produced by oxidation of tyrosine. Belongs to the lysyl oxidase family. Elastic fibre formation;Crosslinking of collagen fibrils PE1 8 +NX_Q9Y4K1 Beta/gamma crystallin domain-containing protein 1 1723 188676 5.61 0 Nucleoplasm;Cytosol;Cytoskeleton NA May function as suppressor of malignant melanoma. It may exert its effects through interactions with the cytoskeleton. NA Belongs to the beta/gamma-crystallin family. NA PE1 6 +NX_Q9Y4K3 TNF receptor-associated factor 6 522 59573 6 0 Cytoplasm;Cell cortex;Mitochondrion;Lipid droplet;Nucleolus;Nucleus NA E3 ubiquitin ligase that, together with UBE2N and UBE2V1, mediates the synthesis of 'Lys-63'-linked-polyubiquitin chains conjugated to proteins, such as IKBKG, IRAK1, AKT1 and AKT2. Also mediates ubiquitination of free/unanchored polyubiquitin chain that leads to MAP3K7 activation. Leads to the activation of NF-kappa-B and JUN. May be essential for the formation of functional osteoclasts. Seems to also play a role in dendritic cells (DCs) maturation and/or activation. Represses c-Myb-mediated transactivation, in B-lymphocytes. Adapter protein that seems to play a role in signal transduction initiated via TNF receptor, IL-1 receptor and IL-17 receptor. Regulates osteoclast differentiation by mediating the activation of adapter protein complex 1 (AP-1) and NF-kappa-B, in response to RANK-L stimulation. Together with MAP3K8, mediates CD40 signals that activate ERK in B-cells and macrophages, and thus may play a role in the regulation of immunoglobulin production. Sumoylated on Lys-124, Lys-142 and Lys-453 with SUMO1.;Polyubiquitinated on Lys-124; after cell stimulation with IL-1-beta or TGF-beta. This ligand-induced cell stimulation leads to dimerization/oligomerization of TRAF6 molecules, followed by auto-ubiquitination which involves UBE2N and UBE2V1 and leads to TRAF6 activation. This 'Lys-63' site-specific poly-ubiquitination appears to be associated with the activation of signaling molecules. Endogenous autoubiquitination occurs only for the cytoplasmic form. Deubiquitinated by USP10 in a TANK-dependent manner, leading to the negative regulation of NF-kappaB signaling upon DNA damage (PubMed:25861989). Belongs to the TNF receptor-associated factor family. A subfamily. Protein modification; protein ubiquitination.;MAPK signaling pathway;Ubiquitin mediated proteolysis;Endocytosis;Osteoclast differentiation;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Neurotrophin signaling pathway;Pertussis;Leishmaniasis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Tuberculosis;Hepatitis C;Measles;Herpes simplex infection;Pathways in cancer;Small cell lung cancer;FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;Downstream TCR signaling;PIP3 activates AKT signaling;NOD1/2 Signaling Pathway;activated TAK1 mediates p38 MAPK activation;MyD88:MAL(TIRAP) cascade initiated on plasma membrane;p75NTR recruits signalling complexes;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated IRF7 activation;TRAF6 mediated NF-kB activation;TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;MyD88 dependent cascade initiated on endosome;MyD88 cascade initiated on plasma membrane;IKK complex recruitment mediated by RIP1;TRAF6-mediated induction of TAK1 complex within TLR4 complex;IRAK1 recruits IKK complex;IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation;Regulated proteolysis of p75NTR;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;IRAK2 mediated activation of TAK1 complex;IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation;NF-kB is activated and signals survival;NRIF signals cell death from the nucleus;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Ub-specific processing proteases;Ovarian tumor domain proteases;TICAM1, RIP1-mediated IKK complex recruitment;TICAM1,TRAF6-dependent induction of TAK1 complex;Interleukin-1 signaling PE1 11 +NX_Q9Y4K4 Mitogen-activated protein kinase kinase kinase kinase 5 846 95024 7.97 0 Cytoplasm;Cytosol;Cell membrane NA May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway. NA Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. NA PE1 14 +NX_Q9Y4L1 Hypoxia up-regulated protein 1 999 111335 5.16 0 Endoplasmic reticulum lumen Immunodeficiency 59 and hypoglycemia Has a pivotal role in cytoprotective cellular mechanisms triggered by oxygen deprivation. May play a role as a molecular chaperone and participate in protein folding. NA Belongs to the heat shock protein 70 family. Protein processing in endoplasmic reticulum;XBP1(S) activates chaperone genes;Scavenging by Class F Receptors PE1 11 +NX_Q9Y4L5 E3 ubiquitin-protein ligase RNF115 304 33703 5.39 0 Cytosol;Mitochondrion;Nucleolus NA E3 ubiquitin-protein ligase that mediates E2-dependent, 'Lys-48'- and/or 'Lys-63'-linked polyubiquitination of substrates and may play a role in diverse biological processes. Through their polyubiquitination, may play a role in the endosomal trafficking and degradation of membrane receptors including EGFR, FLT3, MET and CXCR4. RING-type zinc finger-dependent and E2-dependent autoubiquitination. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 1 +NX_Q9Y4M8 Putative uncharacterized protein encoded by LINC00588 146 16018 11.24 0 NA NA NA NA NA NA PE5 8 +NX_Q9Y4P1 Cysteine protease ATG4B 393 44294 4.91 0 Nucleoplasm;Cytoplasm;Cytosol;Nucleus NA Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy. Cleaves the C-terminal amino acid of ATG8 family proteins MAP1LC3, GABARAPL1, GABARAPL2 and GABARAP, to reveal a C-terminal glycine. Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy. Has also an activity of delipidating enzyme for the PE-conjugated forms. NA Belongs to the peptidase C54 family. Regulation of autophagy;Macroautophagy PE1 2 +NX_Q9Y4P3 Transducin beta-like protein 2 447 49798 9.52 0 Cytosol NA NA NA NA NA PE1 7 +NX_Q9Y4P8 WD repeat domain phosphoinositide-interacting protein 2 454 49408 6.04 0 Nucleoplasm;Cytoplasm;Cytosol;Preautophagosomal structure membrane NA Is also required for autophagic clearance of pathogenic bacteria.;Recruits the ATG12-ATG5-ATG16L1 complex to omegasomes and preautophagosomal structures, resulting in ATG8 family proteins lipidation and starvation-induced autophagy.;Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:20505359, PubMed:28561066). Involved in an early step of the formation of preautophagosomal structures (PubMed:20505359, PubMed:28561066). Binds and is activated by phosphatidylinositol 3-phosphate (PtdIns3P) forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases (PubMed:28561066). Once activated, WIPI2 recruits at phagophore assembly sites the ATG12-ATG5-ATG16L1 complex that directly controls the elongation of the nascent autophagosomal membrane (PubMed:20505359, PubMed:28561066).;Binds the membrane surrounding Salmonella and recruits the ATG12-5-16L1 complex, initiating LC3 conjugation, autophagosomal membrane formation, and engulfment of Salmonella. NA Belongs to the WD repeat SVP1 family. Macroautophagy PE1 7 +NX_Q9Y4P9 Sperm flagellar protein 1 236 26987 9.7 0 Flagellum;Cytoplasm;Cilium axoneme;Cytoskeleton NA Microtubule-associated protein involved in the stabilization of microtubules along the axis of migration during radial intercalation. Promotes the establishment and stabilization of an axis of microtubules required for the active migration of cells into the outer epithelium (By similarity). Microtubule-associated protein that promotes microtubule bundling and stabilizes microtubules against depolymerization in response to cold shock (By similarity). NA NA NA PE1 20 +NX_Q9Y4R7 Tubulin monoglycylase TTLL3 772 87414 8.73 0 Cilium axoneme;Cilium;Cytoskeleton NA Monoglycylase which modifies alpha- and beta-tubulin, generating side chains of glycine on the gamma-carboxyl groups of specific glutamate residues within the C-terminal tail of alpha- and beta-tubulin. Involved in the side-chain initiation step of the glycylation reaction by adding a single glycine chain to generate monoglycine side chains. Not involved in elongation step of the polyglycylation reaction. NA NA Carboxyterminal post-translational modifications of tubulin PE1 3 +NX_Q9Y4R8 Telomere length regulation protein TEL2 homolog 837 91747 5.54 0 Cytoplasm;Membrane;Telomere;Cytosol;Nucleus You-Hoover-Fong syndrome Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, which regulate cell growth and survival in response to nutrient and hormonal signals. May be involved in telomere length regulation. Hydroxylation by PHD3 is required for a proper interaction with ATR, and activation of the ATR/CHK1/p53 pathway following DNA damage.;Ubiquitinated by the SCF(FBXO9) complex following phosphorylation by CK2 in response to growth factor deprivation, leading to its degradation by the proteasome. Only mTORC1-associated protein is ubiquitinated and degraded, leading to selective inactivation of mTORC1 to restrain cell growth and protein translation, while mTORC2 is activated due to the relief of feedback inhibition by mTORC1.;Phosphorylated at Ser-485 by CK2 following growth factor deprivation, leading to its subsequent ubiquitination by the SCF(FBXO9) complex. Phosphorylation by CK2 only takes place when TELO2 is bound to mTORC1, not mTORC2; leading to selective ubiquitination of mTORC1-associated protein. Belongs to the TEL2 family. Fanconi anemia pathway PE1 16 +NX_Q9Y4U1 Methylmalonic aciduria and homocystinuria type C protein 282 31728 7.69 0 Nucleoplasm;Cytosol;Cytoplasm;Cell membrane Methylmalonic aciduria and homocystinuria, cblC type Catalyzes the reductive dealkylation of cyanocobalamin to cob(II)alamin, using FAD or FMN as cofactor and NADPH as cosubstrate (PubMed:19700356, PubMed:21697092, PubMed:22642810). Can also catalyze the glutathione-dependent reductive demethylation of methylcobalamin, and, with much lower efficiency, the glutathione-dependent reductive demethylation of adenosylcobalamin (PubMed:19801555, PubMed:22642810, PubMed:25809485). Under anaerobic conditions cob(I)alamin is the first product; it is highly reactive and is converted to aquocob(II)alamin in the presence of oxygen (PubMed:19801555). Binds cyanocobalamin, adenosylcobalamin, methylcobalamin and other, related vitamin B12 derivatives (PubMed:21071249). NA Belongs to the MMACHC family. Cofactor biosynthesis; adenosylcobalamin biosynthesis.;Vitamin digestion and absorption;Cobalamin (Cbl, vitamin B12) transport and metabolism;Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD;Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC PE1 1 +NX_Q9Y4W2 Ribosomal biogenesis protein LAS1L 734 83065 4.64 0 Cytoplasm;Centriolar satellite;Nucleolus;Nucleoplasm;Cytosol Wilson-Turner X-linked mental retardation syndrome Involved in the biogenesis of the 60S ribosomal subunit. Required for maturation of the 28S rRNA. Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes. NA Belongs to the LAS1 family. Major pathway of rRNA processing in the nucleolus and cytosol PE1 X +NX_Q9Y4W6 AFG3-like protein 2 797 88584 8.81 2 Mitochondrion inner membrane;Mitochondrion Spastic ataxia 5, autosomal recessive;Spinocerebellar ataxia 28 ATP-dependent protease which is essential for axonal and neuron development. In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU (PubMed:27642048). Required for the maturation of paraplegin (SPG7) after its cleavage by mitochondrial-processing peptidase (MPP), converting it into a proteolytically active mature form (By similarity). Upon import into the mitochondrion, the N-terminal transit peptide is cleaved to generate an intermediate form which undergoes autocatalytic proteolytic processing to generate the proteolytically active mature form. In the N-terminal section; belongs to the AAA ATPase family.;In the C-terminal section; belongs to the peptidase M41 family. Processing of SMDT1 PE1 18 +NX_Q9Y4X0 AMME syndrome candidate gene 1 protein 333 35463 8.96 0 Nucleoplasm;Mitochondrion;Nucleus Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis;Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis NA NA NA NA PE1 X +NX_Q9Y4X1 UDP-glucuronosyltransferase 2A1 527 59926 9.07 1 Membrane NA UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Active on odorants and seems to be involved in olfaction; it could help clear lipophilic odorant molecules from the sensory epithelium. NA Belongs to the UDP-glycosyltransferase family. Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Pentose and glucuronate interconversions;Ascorbate and aldarate metabolism;Steroid hormone biosynthesis;Starch and sucrose metabolism;Other types of O-glycan biosynthesis;Retinol metabolism;Porphyrin and chlorophyll metabolism;Metabolism of xenobiotics by cytochrome P450;Drug metabolism - cytochrome P450;Drug metabolism - other enzymes;Metabolic pathways;Glucuronidation PE1 4 +NX_Q9Y4X3 C-C motif chemokine 27 112 12618 8.95 0 Secreted NA Chemotactic factor that attracts skin-associated memory T-lymphocytes. May play a role in mediating homing of lymphocytes to cutaneous sites. Binds to CCR10. NA Belongs to the intercrine beta (chemokine CC) family. Cytokine-cytokine receptor interaction;Chemokine signaling pathway;Intestinal immune network for IgA production;G alpha (i) signalling events;Chemokine receptors bind chemokines PE1 9 +NX_Q9Y4X4 Krueppel-like factor 12 402 44240 9.74 0 Nucleoplasm;Cytosol;Nucleus NA Confers strong transcriptional repression to the AP-2-alpha gene. Binds to a regulatory element (A32) in the AP-2-alpha gene promoter. NA Belongs to the Sp1 C2H2-type zinc-finger protein family. NA PE1 13 +NX_Q9Y4X5 E3 ubiquitin-protein ligase ARIH1 557 64118 4.97 0 Cajal body;Golgi apparatus;Cytoplasm;Nucleoplasm;Nucleus NA E3 ubiquitin-protein ligase, which catalyzes ubiquitination of target proteins together with ubiquitin-conjugating enzyme E2 UBE2L3 (PubMed:15236971, PubMed:21532592, PubMed:24076655, PubMed:27565346, PubMed:23707686). Acts as an atypical E3 ubiquitin-protein ligase by working together with cullin-RING ubiquitin ligase (CRL) complexes and initiating ubiquitination of CRL substrates: associates with CRL complexes and specifically mediates addition of the first ubiquitin on CRLs targets (PubMed:27565346). The initial ubiquitin is then elongated by CDC34/UBE2R1 and UBE2R2 (PubMed:27565346). E3 ubiquitin-protein ligase activity is activated upon binding to neddylated cullin-RING ubiquitin ligase complexes (PubMed:24076655, PubMed:27565346). Plays a role in protein translation in response to DNA damage by mediating ubiquitination of EIF4E2, the consequences of EIF4E2 ubiquitination are however unclear (PubMed:25624349). According to a report, EIF4E2 ubiquitination leads to promote EIF4E2 cap-binding and protein translation arrest (PubMed:25624349). According to another report EIF4E2 ubiquitination leads to its subsequent degradation (PubMed:14623119). Acts as the ligase involved in ISGylation of EIF4E2 (PubMed:17289916). NA Belongs to the RBR family. Ariadne subfamily. Protein modification; protein ubiquitination.;ISG15 antiviral mechanism PE1 15 +NX_Q9Y4Y9 U6 snRNA-associated Sm-like protein LSm5 91 9937 4.42 0 Nucleus NA Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320). NA Belongs to the snRNP Sm proteins family. RNA degradation;Spliceosome;mRNA Splicing - Major Pathway;mRNA decay by 5' to 3' exoribonuclease PE1 7 +NX_Q9Y4Z0 U6 snRNA-associated Sm-like protein LSm4 139 15350 10.02 0 Cytoplasmic vesicle;Nucleus NA Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320). NA Belongs to the snRNP Sm proteins family. RNA degradation;Spliceosome;mRNA Splicing - Major Pathway;mRNA decay by 5' to 3' exoribonuclease PE1 19 +NX_Q9Y4Z2 Neurogenin-3 214 23077 9.61 0 Nucleoplasm;Nucleus speckle;Nucleus Diarrhea 4, malabsorptive, congenital Acts as a transcriptional regulator. Together with NKX2-2, initiates transcriptional activation of NEUROD1. Involved in neurogenesis. Also required for the specification of a common precursor of the 4 pancreatic endocrine cell types (By similarity). NA NA Maturity onset diabetes of the young;Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells;Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells PE1 10 +NX_Q9Y508 E3 ubiquitin-protein ligase RNF114 228 25694 6.99 0 Cytoplasm;Cytosol;Nucleus;Cell membrane NA E3 ubiquitin-protein ligase that promotes the ubiquitination of various substrates (PubMed:23645206, PubMed:25165885). In turn, participates in the regulation of many biological processes including cell cycle, apoptosis, osteoclastogenesis as well as innate or adaptive immunity (PubMed:25165885, PubMed:28708287). Acts as negative regulator of NF-kappa-B-dependent transcription by promoting the ubiquitination and stabilization of the NF-kappa-B inhibitor TNFAIP3 (PubMed:25165885). May promote the ubiquitination of TRAF6 as well (PubMed:28708287). Acts also as a negative regulator of T-cell activation (PubMed:25165885). Inhibits cellular dsRNA responses and interferon production by targeting MAVS component for proteasomal degradation (PubMed:25165885). Ubiquitinates the CDK inhibitor CDKN1A leading to its degradationand probably also CDKN1B and CDKN1C (PubMed:23645206). This activity stimulates cell cycle G1-to-S phase transition and suppresses cellular senescence. May play a role in spermatogenesis. Autoubiquitinated. Polyubiquitinated in the presence of E2 enzymes UBE2D1, UBE2D2 and UBE2D3, but only monoubiquitinated in the presence of UBE2E1. NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation PE1 20 +NX_Q9Y512 Sorting and assembly machinery component 50 homolog 469 51976 6.44 0 Mitochondrion outer membrane;Cytoplasm;Mitochondrion NA Plays a crucial role in the maintenance of the structure of mitochondrial cristae and the proper assembly of the mitochondrial respiratory chain complexes (PubMed:22252321, PubMed:25781180). Required for the assembly of TOMM40 into the TOM complex (PubMed:15644312). NA Belongs to the SAM50/omp85 family. Mitochondrial protein import;Cristae formation PE1 22 +NX_Q9Y519 Transmembrane protein 184B 407 45562 6.45 7 Membrane;Nucleoplasm;Cytosol;Golgi apparatus NA May activate the MAP kinase signaling pathway. NA Belongs to the TMEM184 family. NA PE1 22 +NX_Q9Y520 Protein PRRC2C 2896 316911 9.17 0 Cytosol NA NA NA NA NA PE1 1 +NX_Q9Y530 ADP-ribose glycohydrolase OARD1 152 17025 8.55 0 Nucleoplasm;Nucleolus;Chromosome NA ADP-ribose glycohydrolase that hydrolyzes ADP-ribose and acts on different substrates, such as proteins ADP-ribosylated on glutamate and O-acetyl-ADP-D-ribose (PubMed:23481255, PubMed:23474714, PubMed:21849506). Specifically acts as a glutamate mono-ADP-ribosylhydrolase by mediating the removal of mono-ADP-ribose attached to glutamate residues on proteins (PubMed:23481255, PubMed:23474714). Does not act on poly-ADP-ribosylated proteins: the poly-ADP-ribose chain of poly-ADP-ribosylated glutamate residues must by hydrolyzed into mono-ADP-ribosylated glutamate by PARG to become a substrate for OARD1 (PubMed:23481255). Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins (PubMed:21849506). Catalyzes the deacylation of O-acetyl-ADP-ribose, O-propionyl-ADP-ribose and O-butyryl-ADP-ribose, yielding ADP-ribose plus acetate, propionate and butyrate, respectively (PubMed:21849506). NA NA NA PE1 6 +NX_Q9Y534 Cold shock domain-containing protein C2 153 16786 7.02 0 Cytoplasm;Nucleoplasm;Nucleus;Cytosol NA RNA-binding factor which binds specifically to the very 3'-UTR ends of both histone H1 and H3.3 mRNAs, encompassing the polyadenylation signal. Might play a central role in the negative regulation of histone variant synthesis in the developing brain (By similarity). NA NA NA PE1 22 +NX_Q9Y535 DNA-directed RNA polymerase III subunit RPC8 204 22918 4.47 0 Nucleoplasm;Centrosome;Nucleus;Cytoplasmic vesicle NA DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity). NA Belongs to the eukaryotic RPB7/RPC8 RNA polymerase subunit family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;RNA polymerase;Cytosolic DNA-sensing pathway;Cytosolic sensors of pathogen-associated DNA;RNA Polymerase III Chain Elongation;RNA Polymerase III Transcription Termination;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter PE1 22 +NX_Q9Y536 Peptidyl-prolyl cis-trans isomerase A-like 4A 164 18182 9.32 0 Cytoplasm NA PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity). NA Belongs to the cyclophilin-type PPIase family. PPIase A subfamily. NA PE1 1 +NX_Q9Y543 Transcription factor HES-2 173 18470 9.88 0 Nucleus NA Transcriptional repressor of genes that require a bHLH protein for their transcription. NA NA NA PE2 1 +NX_Q9Y546 Leucine-rich repeat-containing protein 42 428 48571 7.2 0 Nucleoplasm NA NA NA Belongs to the LRRC42 family. NA PE1 1 +NX_Q9Y547 Intraflagellar transport protein 25 homolog 144 16297 4.93 0 Nucleoplasm;Cytosol;Cilium NA Component of the IFT complex B required for sonic hedgehog/SHH signaling. May mediate transport of SHH components: required for the export of SMO and PTCH1 receptors out of the cilium and the accumulation of GLI2 at the ciliary tip in response to activation of the SHH pathway, suggesting it is involved in the dynamic transport of SHH signaling molecules within the cilium. Not required for ciliary assembly. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation (By similarity). NA Belongs to the IFT25 family. Intraflagellar transport PE1 1 +NX_Q9Y548 Protein YIPF1 306 34277 5.13 5 cis-Golgi network membrane;trans-Golgi network membrane;Endoplasmic reticulum;Nucleoplasm;Late endosome membrane NA NA NA Belongs to the YIP1 family. NA PE1 1 +NX_Q9Y561 Low-density lipoprotein receptor-related protein 12 859 94984 5.07 1 Mitochondrion;Cell membrane;Coated pit;Nucleolus;Membrane NA Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor. NA Belongs to the LDLR family. Retinoid metabolism and transport PE1 8 +NX_Q9Y566 SH3 and multiple ankyrin repeat domains protein 1 2161 224959 8.29 0 Cytoplasm;Postsynaptic density;Synapse;Cell membrane NA Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and Homer, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction. NA Belongs to the SHANK family. Glutamatergic synapse;Neurexins and neuroligins PE1 19 +NX_Q9Y570 Protein phosphatase methylesterase 1 386 42315 5.67 0 Nucleoplasm;Nucleus NA Demethylates proteins that have been reversibly carboxymethylated. Demethylates PPP2CB (in vitro) and PPP2CA. Binding to PPP2CA displaces the manganese ion and inactivates the enzyme. Phosphorylated by SIK1 following increases in intracellular sodium, leading to dissociation from the protein phosphatase 2A (PP2A) complex and subsequent dephosphorylation of sodium/potassium-transporting ATPase ATP1A1.;PPME1 is phosphorylated by SIK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the AB hydrolase superfamily. Cyclin A/B1/B2 associated events during G2/M transition PE1 11 +NX_Q9Y572 Receptor-interacting serine/threonine-protein kinase 3 518 56887 6.08 0 Cytosol;Mitochondrion;Cell membrane NA Essential for necroptosis, a programmed cell death process in response to death-inducing TNF-alpha family members. Upon induction of necrosis, RIPK3 interacts with, and phosphorylates RIPK1 and MLKL to form a necrosis-inducing complex. RIPK3 binds to and enhances the activity of three metabolic enzymes: GLUL, GLUD1, and PYGL. These metabolic enzymes may eventually stimulate the tricarboxylic acid cycle and oxidative phosphorylation, which could result in enhanced ROS production. RIPK1 and RIPK3 undergo reciprocal auto- and trans-phosphorylation. Phosphorylation of Ser-199 plays a role in the necroptotic function of RIPK3. Phosphorylation at Ser-227 is required for binding MLKL (PubMed:11734559, PubMed:19524512, PubMed:22265413). Phosphorylation at Thr-182 is important for its kinase activity, interaction with PELI1 and PELI1-mediated 'Lys-48'-linked polyubiquitination and for its ability to mediate TNF-induced necroptosis (PubMed:29883609).;Polyubiquitinated with 'Lys-48' and 'Lys-63'-linked chains by BIRC2/c-IAP1 and BIRC3/c-IAP2, leading to activation of NF-kappa-B (PubMed:21931591). Polyubiquitinated with 'Lys-48'-linked chains by PELI1 leading to its subsequent proteasome-dependent degradation. Ubiquitinated by STUB1 leading to its subsequent proteasome-dependent degradation (PubMed:29883609). Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Cytosolic DNA-sensing pathway;TRP channels;RIP-mediated NFkB activation via ZBP1;TRIF-mediated programmed cell death;IKK complex recruitment mediated by RIP1;RIPK1-mediated regulated necrosis;TICAM1, RIP1-mediated IKK complex recruitment;TLR3-mediated TICAM1-dependent programmed cell death PE1 14 +NX_Q9Y573 Actin-binding protein IPP 584 65261 5.49 0 Cytoskeleton NA May play a role in organizing the actin cytoskeleton. NA NA NA PE1 1 +NX_Q9Y574 Ankyrin repeat and SOCS box protein 4 426 48195 7.57 0 NA NA Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes differentiation and maturation of the vascular lineage by an oxygen-dependent mechanism (By similarity). Hydroxylation at Asn-246 by HIF1AN may provide an oxygen-dependent regulation mechanism for the function of ASB4 in promoting vascular differentiation. Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 7 +NX_Q9Y575 Ankyrin repeat and SOCS box protein 3 518 57745 5.84 0 NA NA Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes TNFRSF1B. NA Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 2 +NX_Q9Y576 Ankyrin repeat and SOCS box protein 1 335 37014 8.55 0 Nucleoplasm NA May play a role in testis development (By similarity). Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. NA Belongs to the ankyrin SOCS box (ASB) family. Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 2 +NX_Q9Y577 E3 ubiquitin-protein ligase TRIM17 477 54418 6.62 0 Cytoplasmic vesicle NA May function as a ubiquitin E3 ligase. Auto-ubiquitinated. Belongs to the TRIM/RBCC family. Protein modification; protein ubiquitination.;Interferon gamma signaling PE1 1 +NX_Q9Y580 RNA-binding protein 7 266 30504 9.56 0 Nucleoplasm;Nucleus NA Subunit of the trimeric nuclear exosome targeting (NEXT) complex, a complex that directs a subset of non-coding short-lived RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters (PubMed:27871484). Possible involved in germ cell RNA processing and meiosis (Probable). NA NA NA PE1 11 +NX_Q9Y581 Insulin-like peptide INSL6 213 24860 9.71 0 Secreted NA May have a role in sperm development and fertilization. NA Belongs to the insulin family. NA PE1 9 +NX_Q9Y584 Mitochondrial import inner membrane translocase subunit Tim22 194 20031 7.51 3 Mitochondrion inner membrane NA Essential core component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. In the TIM22 complex, it constitutes the voltage-activated and signal-gated channel. Forms a twin-pore translocase that uses the membrane potential as external driving force in 2 voltage-dependent steps (By similarity). Disulfide bonds promote efficient assembly of the TIM22 complex. Belongs to the Tim17/Tim22/Tim23 family. Mitochondrial protein import PE1 17 +NX_Q9Y585 Olfactory receptor 1A2 309 34396 8.81 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 17 +NX_Q9Y586 Protein mab-21-like 2 359 40923 8.87 0 Cytoplasm;Nucleus Microphthalmia/coloboma and skeletal dysplasia syndrome Required for several aspects of embryonic development including normal development of the eye. NA Belongs to the mab-21 family. NA PE1 4 +NX_Q9Y587 AP-4 complex subunit sigma-1 144 17005 5.08 0 Cytoplasmic vesicle;trans-Golgi network membrane Spastic paraplegia 52, autosomal recessive Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable). NA Belongs to the adaptor complexes small subunit family. Lysosome;Lysosome Vesicle Biogenesis PE1 14 +NX_Q9Y592 Centrosomal protein of 83 kDa 701 82940 5.9 0 Golgi apparatus;Nucleoplasm;Centriole Nephronophthisis 18 Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiation of primary cilium assembly. NA Belongs to the CEP83 family. Anchoring of the basal body to the plasma membrane PE1 12 +NX_Q9Y597 BTB/POZ domain-containing protein KCTD3 815 88984 6.58 0 Cytosol;Cell membrane NA Accessory subunit of potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 (HCN3) upregulating its cell-surface expression and current density without affecting its voltage dependence and kinetics. NA Belongs to the KCTD3 family. NA PE1 1 +NX_Q9Y5A6 Zinc finger and SCAN domain-containing protein 21 473 53658 7.81 0 Endoplasmic reticulum;Nucleus NA Strong transcriptional activator. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 7 +NX_Q9Y5A7 NEDD8 ultimate buster 1 615 70538 5.71 0 Nucleoplasm;Nucleolus;Nucleus NA Promotes the degradation of NEDD8 more efficiently than isoform 2.;Specific down-regulator of the NEDD8 conjugation system. Recruits NEDD8, UBD, and their conjugates to the proteasome for degradation. NA NA Neddylation PE1 7 +NX_Q9Y5A9 YTH domain-containing family protein 2 579 62334 8.87 0 Cytoplasm;Cytosol;P-body;Nucleus NA (Microbial infection) Promotes viral gene expression and replication of polyomavirus SV40: acts by binding to N6-methyladenosine (m6A)-containing viral RNAs (PubMed:29447282).;Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs, and regulates mRNA stability (PubMed:24284625, PubMed:26046440, PubMed:26318451). M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in mRNA stability and processing (PubMed:24284625, PubMed:22575960, PubMed:25412658, PubMed:25412661). Acts as a regulator of mRNA stability by promoting degradation of m6A-containing mRNAs via interaction with the CCR4-NOT and ribonuclease P/MRP complexes, depending on the context (PubMed:24284625, PubMed:26046440, PubMed:27558897, PubMed:30930054). M6A-containing mRNAs containing a binding site for RIDA/HRSP12 (5'-GGUUC-3') are preferentially degraded by endoribonucleolytic cleavage: cooperative binding of RIDA/HRSP12 and YTHDF2 to transcripts leads to recruitment of the ribonuclease P/MRP complex (PubMed:30930054). Other m6A-containing mRNAs undergo deadenylation via direct interaction between YTHDF2 and CNOT1, leading to recruitment of the CCR4-NOT and subsequent deadenylation of m6A-containing mRNAs (PubMed:27558897). Required maternally to regulate oocyte maturation: probably acts by binding to m6A-containing mRNAs, thereby regulating maternal transcript dosage during oocyte maturation, which is essential for the competence of oocytes to sustain early zygotic development (By similarity). Also involved in hematopoietic stem cells specification by binding to m6A-containing mRNAs, leading to promote their degradation (PubMed:30065315). Also acts as a regulator of neural development by promoting m6A-dependent degradation of neural development-related mRNA targets (By similarity). Regulates circadian regulation of hepatic lipid metabolism: acts by promoting m6A-dependent degradation of PPARA transcripts (PubMed:30428350). Regulates the innate immune response to infection by inhibiting the type I interferon response: acts by binding to m6A-containing IFNB transcripts and promoting their degradation (PubMed:30559377). Also acts as a promoter of cap-independent mRNA translation following heat shock stress: upon stress, relocalizes to the nucleus and specifically binds mRNAs with some m6A methylation mark at their 5'-UTR, protecting demethylation of mRNAs by FTO, thereby promoting cap-independent mRNA translation (PubMed:26458103).;(Microbial infection) Promotes viral gene expression and virion production of kaposis sarcoma-associated herpesvirus (KSHV) at some stage of the KSHV life cycle (in iSLK.219 and iSLK.BAC16 cells) (PubMed:29659627). Acts by binding to N6-methyladenosine (m6A)-containing viral RNAs (PubMed:29659627). NA Belongs to the YTHDF2 family. NA PE1 1 +NX_Q9Y5B0 RNA polymerase II subunit A C-terminal domain phosphatase 961 104399 5.17 0 Nucleoplasm;Spindle pole;Centrosome;Cytoplasmic vesicle;Nucleus;Midbody Congenital cataracts, facial dysmorphism, and neuropathy Processively dephosphorylates 'Ser-2' and 'Ser-5' of the heptad repeats YSPTSPS in the C-terminal domain of the largest RNA polymerase II subunit. This promotes the activity of RNA polymerase II. Plays a role in the exit from mitosis by dephosphorylating crucial mitotic substrates (USP44, CDC20 and WEE1) that are required for M-phase-promoting factor (MPF)/CDK1 inactivation. Phosphorylated. In the presence of TFIIF, the phosphorylated form has an increased CTD phosphatase activity. The phosphorylation is required for the physical interaction with GTF2F1. NA Formation of RNA Pol II elongation complex;Formation of the Early Elongation Complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of the HIV-1 Early Elongation Complex;Formation of HIV-1 elongation complex containing HIV-1 Tat;Abortive elongation of HIV-1 transcript in the absence of Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;TP53 Regulates Transcription of DNA Repair Genes PE1 18 +NX_Q9Y5B6 PAX3- and PAX7-binding protein 1 917 104804 5.52 0 Nucleoplasm;Cytosol;Nucleus NA Adapter protein linking the transcription factors PAX3 and PAX7 to the histone methylation machinery and involved in myogenesis. Associates with a histone methyltransferase complex that specifically mediates dimethylation and trimethylation of 'Lys-4' of histone H3. Mediates the recruitment of that complex to the transcription factors PAX3 and PAX7 on chromatin to regulate the expression of genes involved in muscle progenitor cells proliferation including ID3 and CDC20 (By similarity). NA Belongs to the GCF family. NA PE1 21 +NX_Q9Y5B8 Nucleoside diphosphate kinase 7 376 42492 6.03 0 Mitochondrion NA Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. NA Belongs to the NDK family. Purine metabolism;Pyrimidine metabolism;Metabolic pathways;Recruitment of mitotic centrosome proteins and complexes;Recruitment of NuMA to mitotic centrosomes PE1 1 +NX_Q9Y5B9 FACT complex subunit SPT16 1047 119914 5.5 0 Nucleoplasm;Nucleolus;Nucleus;Chromosome NA Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from the nucleosome, then subsequently promotes the reestablishment of the nucleosome following the passage of RNA polymerase II. The FACT complex is probably also involved in phosphorylation of 'Ser-392' of p53/TP53 via its association with CK2 (casein kinase II). ADP-ribosylated. ADP-ribosylation by PARP1 is induced by genotoxic stress and correlates with dissociation of FACT from chromatin. Belongs to the peptidase M24 family. SPT16 subfamily. Formation of RNA Pol II elongation complex;Formation of HIV elongation complex in the absence of HIV Tat;Formation of HIV-1 elongation complex containing HIV-1 Tat;RNA Polymerase II Pre-transcription Events;Pausing and recovery of Tat-mediated HIV elongation;Tat-mediated HIV elongation arrest and recovery;Tat-mediated elongation of the HIV-1 transcript;HIV elongation arrest and recovery;Pausing and recovery of HIV elongation;RNA Polymerase II Transcription Elongation;TP53 Regulates Transcription of DNA Repair Genes;Regulation of TP53 Activity through Phosphorylation PE1 14 +NX_Q9Y5C1 Angiopoietin-related protein 3 460 53637 6.24 0 Lamellipodium;Secreted Hypobetalipoproteinemia, familial, 2 ANGPTL3(17-221): In vitro inhibits LPL activity; not effective on GPIHBP1-stabilized LPL.;Involved in angiogenesis. Binds to endothelial cells via integrin alpha-V/beta-3 (ITGAV:ITGB3), activates FAK, MAPK and Akt signaling pathways and induces cell adhesion and cell migration (PubMed:11877390). Secreted from podocytes, may modulate properties of glomerular endothelial cells involving integrin alpha-V/beta-3 and Akt signaling (PubMed:18535744). May increase the motility of podocytes. May induce actin filament rearrangements in podocytes implicating integrin alpha-V/beta-3 and Rac1 activation. Binds to hematopoietic stem cells (HSC) and is involved in the regulation of HSC activity probably implicating down-regulation of IKZF1/IKAROS (By similarity).;Acts in part as a hepatokine that is involved in regulation of lipid and glucose metabolism (PubMed:11788823, PubMed:12909640, PubMed:23661675, PubMed:25495645). Proposed to play a role in the trafficking of energy substrates to either storage or oxidative tissues in response to food intake (By similarity). Has a stimulatory effect on plasma triglycerides (TG), which is achieved by suppressing plasma TG clearance via inhibition of LPL activity. The inhibition of LPL activity appears to be an indirect mechanism involving recruitment of proprotein convertases PCSK6 and FURIN to LPL leading to cleavage and dissociation of LPL from the cell surface; the function does not require ANGPTL3 proteolytic cleavage but seems to be mediated by the N-terminal domain, and is not inhibited by GPIHBP1 (PubMed:12097324, PubMed:19318355, PubMed:20581395). Can inhibit endothelial lipase, causing increased plasma levels of high density lipoprotein (HDL) cholesterol and phospholipids (PubMed:17110602, PubMed:19028676). Can bind to adipocytes to activate lipolysis, releasing free fatty acids and glycerol (PubMed:12565906). Suppresses LPL specifically in oxidative tissues which is required to route very low density lipoprotein (VLDL)-TG to white adipose tissue (WAT) for storage in response to food; the function may involve cooperation with circulating, liver-derived ANGPTL8 and ANGPTL4 expression in WAT (By similarity). Contributes to lower plasma levels of low density lipoprotein (LDL)-cholesterol by a mechanism that is independent of the canonical pathway implicating APOE and LDLR. May stimulate hypothalamic LPL activity (By similarity). In part proteolytically cleaved by proprotein convertases; proposed to be involved in activation.;O-glycosylated at Thr-226 by GALNT2; blocks processing and activation by proprotein convertases. NA Assembly of active LPL and LIPC lipase complexes PE1 1 +NX_Q9Y5E1 Protocadherin beta-9 797 87099 4.88 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5E2 Protocadherin beta-7 793 86707 4.9 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5E3 Protocadherin beta-6 794 87350 4.89 1 Nucleoplasm;Cytosol;Cell membrane NA Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5E4 Protocadherin beta-5 795 86423 4.87 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5E5 Protocadherin beta-4 795 87270 5.05 1 Cytosol;Cell membrane;Cytoskeleton NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5E6 Protocadherin beta-3 796 86714 4.86 1 Cytoplasmic vesicle;Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5E7 Protocadherin beta-2 798 87254 4.76 1 Nucleoplasm;Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5E8 Protocadherin beta-15 787 86329 4.74 1 Mitochondrion;Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5E9 Protocadherin beta-14 798 87548 4.81 1 Cytoplasmic vesicle;Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5F0 Protocadherin beta-13 798 87552 4.81 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5F1 Protocadherin beta-12 795 86770 4.72 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5F2 Protocadherin beta-11 797 87088 4.74 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5F3 Protocadherin beta-1 818 90491 5.2 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5F6 Protocadherin gamma-C5 944 101921 4.85 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5F7 Protocadherin gamma-C4 938 101214 5.16 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5F8 Protocadherin gamma-B7 929 100974 4.94 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5F9 Protocadherin gamma-B6 930 101043 5.09 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5G0 Protocadherin gamma-B5 923 99875 4.92 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5G1 Protocadherin gamma-B3 929 101204 4.87 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5G2 Protocadherin gamma-B2 931 100875 4.89 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5G3 Protocadherin gamma-B1 927 100360 4.92 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5G4 Protocadherin gamma-A9 932 101687 4.91 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5G5 Protocadherin gamma-A8 932 101480 5.1 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE2 5 +NX_Q9Y5G6 Protocadherin gamma-A7 932 101722 4.73 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5G7 Protocadherin gamma-A6 932 100871 4.75 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5G8 Protocadherin gamma-A5 931 100935 4.71 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE2 5 +NX_Q9Y5G9 Protocadherin gamma-A4 962 103968 4.79 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5H0 Protocadherin gamma-A3 932 100971 4.86 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5H1 Protocadherin gamma-A2 932 101484 4.85 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5H2 Protocadherin gamma-A11 935 101543 4.81 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5H3 Protocadherin gamma-A10 936 101447 4.78 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5H4 Protocadherin gamma-A1 931 101226 4.87 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE2 5 +NX_Q9Y5H5 Protocadherin alpha-9 950 102402 4.94 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE2 5 +NX_Q9Y5H6 Protocadherin alpha-8 950 103051 5.13 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5H7 Protocadherin alpha-5 936 102048 5.28 1 Nucleus speckle;Mitochondrion;Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5H8 Protocadherin alpha-3 950 102428 4.95 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5H9 Protocadherin alpha-2 948 102063 5.08 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5I0 Protocadherin alpha-13 950 102483 5.08 1 Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5I1 Protocadherin alpha-11 949 103298 5.22 1 Cytoplasmic vesicle;Cytosol;Cell junction;Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5I2 Protocadherin alpha-10 948 102875 5.04 1 Secreted;Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5I3 Protocadherin alpha-1 950 102952 5.03 1 Secreted;Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5I4 Protocadherin alpha-C2 1007 109450 5.26 1 Nucleoplasm;Mitochondrion;Cell membrane NA Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. NA NA NA PE1 5 +NX_Q9Y5I7 Claudin-16 305 33836 8.26 4 Tight junction;Cell membrane Hypomagnesemia 3 Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Involved in paracellular magnesium reabsorption. Required for a selective paracellular conductance. May form, alone or in partnership with other constituents, an intercellular pore permitting paracellular passage of magnesium and calcium ions down their electrochemical gradients. Alternatively, it could be a sensor of magnesium concentration that could alter paracellular permeability mediated by other factors. NA Belongs to the claudin family. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Hepatitis C;Tight junction interactions PE1 3 +NX_Q9Y5J1 U3 small nucleolar RNA-associated protein 18 homolog 556 62004 8.93 0 Nucleoplasm;Nucleus membrane;Nucleolus NA Involved in nucleolar processing of pre-18S ribosomal RNA. NA Belongs to the WD repeat UTP18 family. Ribosome biogenesis in eukaryotes;rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 17 +NX_Q9Y5J3 Hairy/enhancer-of-split related with YRPW motif protein 1 304 32613 8.99 0 Nucleus;Nucleoplasm;Cytosol;Nucleus membrane NA Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3' (PubMed:11095750). Downstream effector of Notch signaling required for cardiovascular development. Specifically required for the Notch-induced endocardial epithelial to mesenchymal transition, which is itself criticial for cardiac valve and septum development. May be required in conjunction with HEY2 to specify arterial cell fate or identity. Promotes maintenance of neuronal precursor cells and glial versus neuronal fate specification. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6 and by the neuronal bHLH factors ASCL1/MASH1 and NEUROD4/MATH3 (PubMed:15485867). Involved in the regulation of liver cancer cells self-renewal (PubMed:25985737). NA Belongs to the HEY family. NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;RUNX2 regulates osteoblast differentiation;NOTCH3 Intracellular Domain Regulates Transcription;NOTCH4 Intracellular Domain Regulates Transcription PE1 8 +NX_Q9Y5J5 Pleckstrin homology-like domain family A member 3 127 13891 9.72 0 Membrane;Cytoplasm NA P53/TP53-regulated repressor of Akt/AKT1 signaling. Represses AKT1 by preventing AKT1-binding to membrane lipids, thereby inhibiting AKT1 translocation to the cellular membrane and activation. Contributes to p53/TP53-dependent apoptosis by repressing AKT1 activity. Its direct transcription regulation by p53/TP53 may explain how p53/TP53 can negatively regulate AKT1. May act as a tumor suppressor. NA Belongs to the PHLDA3 family. NA PE1 1 +NX_Q9Y5J6 Mitochondrial import inner membrane translocase subunit Tim10 B 103 11586 6.95 0 Mitochondrion inner membrane NA Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin-pore translocase that uses the membrane potential as the external driving force. In the TIM22 complex, it may act as a docking point for the soluble 70 kDa complex that guides the target proteins in transit through the aqueous mitochondrial intermembrane space. NA Belongs to the small Tim family. Mitochondrial protein import PE1 11 +NX_Q9Y5J7 Mitochondrial import inner membrane translocase subunit Tim9 89 10378 6.71 0 Mitochondrion inner membrane;Mitochondrion NA Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. NA Belongs to the small Tim family. Mitochondrial protein import PE1 14 +NX_Q9Y5J9 Mitochondrial import inner membrane translocase subunit Tim8 B 83 9344 5.02 0 Mitochondrion inner membrane NA Probable mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space (By similarity). NA Belongs to the small Tim family. Mitochondrial protein import PE1 11 +NX_Q9Y5K1 Meiotic recombination protein SPO11 396 44537 9.05 0 Nucleus NA Component of a topoisomerase 6 complex specifically required for meiotic recombination. Together with TOP6BL, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. The complex promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles. Essential for the phosphorylation of SMC3, HORMAD1 and HORMAD2. NA Belongs to the TOP6A family. Meiotic recombination PE2 20 +NX_Q9Y5K2 Kallikrein-4 254 27032 4.8 0 Secreted Amelogenesis imperfecta, hypomaturation type, 2A1 Has a major role in enamel formation (PubMed:15235027). Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline matrix (By similarity). N-glycosylated. The N-glycan structures are of complex diantennary or triantennary type, which may be further modified with up to 2 sialic acid residues. Belongs to the peptidase S1 family. Kallikrein subfamily. NA PE1 19 +NX_Q9Y5K3 Choline-phosphate cytidylyltransferase B 369 41940 5.99 0 Endoplasmic reticulum NA Controls phosphatidylcholine synthesis. Extensively phosphorylated. The beta-1 isoform seems to be much less phosphorylated. Belongs to the cytidylyltransferase family. Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from phosphocholine: step 1/2.;Glycerophospholipid metabolism;Metabolic pathways;Synthesis of PC PE1 X +NX_Q9Y5K5 Ubiquitin carboxyl-terminal hydrolase isozyme L5 329 37607 5.23 0 Cytoplasm;Nucleoplasm;Mitochondrion;Nucleus NA Protease that specifically cleaves 'Lys-48'-linked polyubiquitin chains. Deubiquitinating enzyme associated with the 19S regulatory subunit of the 26S proteasome. Putative regulatory component of the INO80 complex; however is inactive in the INO80 complex and is activated by a transient interaction of the INO80 complex with the proteasome via ADRM1. NA Belongs to the peptidase C12 family. Downregulation of TGF-beta receptor signaling;UCH proteinases PE1 1 +NX_Q9Y5K6 CD2-associated protein 639 71451 6.07 0 Cytoplasm;Cell membrane;Cell junction;Nucleolus;Ruffle;Cytosol;Cytoskeleton Focal segmental glomerulosclerosis 3 Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton (PubMed:10339567). In collaboration with CBLC, modulates the rate of RET turnover and may act as regulatory checkpoint that limits the potency of GDNF on neuronal survival. Controls CBLC function, converting it from an inhibitor to a promoter of RET degradation (By similarity). May play a role in receptor clustering and cytoskeletal polarity in the junction between T-cell and antigen-presenting cell (By similarity). May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal glomerolus. Also required for cytokinesis (PubMed:15800069). Plays a role in epithelial cell junctions formation (PubMed:22891260). Phosphorylated on tyrosine residues; probably by c-Abl, Fyn and c-Src. NA Bacterial invasion of epithelial cells;Nephrin family interactions PE1 6 +NX_Q9Y5K8 V-type proton ATPase subunit D 247 28263 9.36 0 Membrane;Nucleoplasm NA Subunit of the peripheral V1 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. NA Belongs to the V-ATPase D subunit family. Oxidative phosphorylation;Metabolic pathways;Phagosome;Synaptic vesicle cycle;Collecting duct acid secretion;Vibrio cholerae infection;Epithelial cell signaling in Helicobacter pylori infection;Rheumatoid arthritis;Transferrin endocytosis and recycling;ROS and RNS production in phagocytes;Insulin receptor recycling;Ion channel transport;Neutrophil degranulation PE1 14 +NX_Q9Y5L0 Transportin-3 923 104203 5.35 0 Cytoplasmic vesicle;Cytoplasm;Nucleus Muscular dystrophy, limb-girdle, autosomal dominant 2 Seems to function in nuclear protein import as nuclear transport receptor. In vitro, mediates the nuclear import of splicing factor SR proteins RBM4, SFRS1 and SFRS2, by recognizing phosphorylated RS domains. NA NA NA PE1 7 +NX_Q9Y5L2 Hypoxia-inducible lipid droplet-associated protein 63 6950 6.71 1 Membrane;Nucleoplasm;Secreted;Lipid droplet NA Increases intracellular lipid accumulation. Stimulates expression of cytokines including IL6, MIF and VEGFA. Enhances cell growth and proliferation. NA NA Lipid particle organization PE1 7 +NX_Q9Y5L3 Ectonucleoside triphosphate diphosphohydrolase 2 495 53665 8.58 2 Endoplasmic reticulum membrane;Cell membrane NA In the nervous system, could hydrolyze ATP and other nucleotides to regulate purinergic neurotransmission. Hydrolyzes ADP only to a marginal extent. The order of activity with different substrates is ATP > GTP > CTP = ITP > UTP >> ADP = UDP. NA Belongs to the GDA1/CD39 NTPase family. Purine metabolism;Phosphate bond hydrolysis by NTPDase proteins PE1 9 +NX_Q9Y5L4 Mitochondrial import inner membrane translocase subunit Tim13 95 10500 8.42 0 Mitochondrion inner membrane;Mitochondrion;Nucleolus NA Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. NA Belongs to the small Tim family. Mitochondrial protein import PE1 19 +NX_Q9Y5L5 Lens epithelial cell protein LEP503 61 6908 8.61 0 NA NA May play a role in lens epithelial cell differentiation. NA NA NA PE2 1 +NX_Q9Y5M1 Uncharacterized protein FAM215A 114 11973 7.75 0 NA NA NA NA NA NA PE5 17 +NX_Q9Y5M6 Oculomedin 44 5321 9.78 0 NA NA NA NA NA NA PE2 1 +NX_Q9Y5M8 Signal recognition particle receptor subunit beta 271 29702 9.17 1 Endoplasmic reticulum membrane;Cell membrane NA Component of the SRP (signal recognition particle) receptor. Ensures, in conjunction with the signal recognition particle, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system. Has GTPase activity. May mediate the membrane association of SRPR (By similarity). NA Belongs to the SRP receptor beta subunit family. Protein export;XBP1(S) activates chaperone genes;SRP-dependent cotranslational protein targeting to membrane PE1 3 +NX_Q9Y5N1 Histamine H3 receptor 445 48671 9.43 7 Cell membrane NA The H3 subclass of histamine receptors could mediate the histamine signals in CNS and peripheral nervous system. Signals through the inhibition of adenylate cyclase and displays high constitutive activity (spontaneous activity in the absence of agonist). Agonist stimulation of isoform 3 neither modified adenylate cyclase activity nor induced intracellular calcium mobilization. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (i) signalling events;Histamine receptors PE1 20 +NX_Q9Y5N5 Methyltransferase N6AMT1 214 22957 5.02 0 Nucleoplasm;Centrosome;Nucleus NA Methyltransferase that can methylate both proteins and DNA, and to a lower extent, arsenic (PubMed:18539146, PubMed:21193388, PubMed:30017583). Catalytic subunit of a heterodimer with TRMT112, which catalyzes N5-methylation of Glu residue of proteins with a Gly-Gln-Xaa-Xaa-Xaa-Arg motif (PubMed:18539146) (By similarity). Methylates ETF1 on 'Gln-185'; ETF1 needs to be complexed to ERF3 in its GTP-bound form to be efficiently methylated (PubMed:18539146, PubMed:20606008). Also acts as a N(6)-adenine-specific DNA methyltransferase by mediating methylation of DNA on the 6th position of adenine (N(6)-methyladenosine) (PubMed:30017583). N(6)-methyladenosine (m6A) DNA is significantly enriched in exonic regions and is associated with gene transcriptional activation (PubMed:30017583). May also play a role in the modulation of arsenic-induced toxicity by mediating the conversion of monomethylarsonous acid (3+) into the less toxic dimethylarsonic acid (PubMed:21193388, PubMed:25997655). It however only plays a limited role in arsenic metabolism compared with AS3MT (PubMed:25997655). NA Belongs to the eukaryotic/archaeal PrmC-related family. Methylation;Eukaryotic Translation Termination PE1 21 +NX_Q9Y5N6 Origin recognition complex subunit 6 252 28107 8.91 0 Nucleoplasm;Nucleolus;Nucleus Meier-Gorlin syndrome 3 Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Does not bind histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3. NA Belongs to the ORC6 family. Cell cycle;CDT1 association with the CDC6:ORC:origin complex;Orc1 removal from chromatin;Activation of ATR in response to replication stress;CDC6 association with the ORC:origin complex;Assembly of the pre-replicative complex;Activation of the pre-replicative complex;E2F-enabled inhibition of pre-replication complex formation;Assembly of the ORC complex at the origin of replication PE1 16 +NX_Q9Y5P0 Olfactory receptor 51B4 310 34912 8.35 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q9Y5P1 Olfactory receptor 51B2 312 35373 8.94 7 Cell membrane NA Odorant receptor. NA Belongs to the G-protein coupled receptor 1 family. Olfactory transduction;Olfactory Signaling Pathway PE2 11 +NX_Q9Y5P2 Chondrosarcoma-associated gene 2/3 protein 127 14430 10.33 0 NA NA Drug-resistance related protein, its expression is associated with the chemotherapy resistant and neoplastic phenotype. May also be linked to the malignant phenotype. NA NA NA PE2 X +NX_Q9Y5P3 Retinoic acid-induced protein 2 530 57180 5.14 0 Cell membrane NA NA NA NA NA PE1 X +NX_Q9Y5P4 Ceramide transfer protein 624 70835 5.29 0 Endoplasmic reticulum;Golgi apparatus;Nucleoplasm;Cytoplasm Mental retardation, autosomal dominant 34 Shelters ceramides and diacylglycerol lipids inside its START domain and mediates the intracellular trafficking of ceramides and diacylglycerol lipids in a non-vesicular manner. Phosphorylation on Ser-132 decreases the affinity toward phosphatidylinositol 4-phosphate at Golgi membranes and reduces ceramide transfer activity. Inactivated by hyperphosphorylation of serine residues by CSNK1G2/CK1 that triggers dissociation from the Golgi complex, thus down-regulating ER-to-Golgi transport of ceramide and sphingomyelin synthesis.;COL4A3BP is phosphorylated by CSNK1G2 NA Sphingolipid de novo biosynthesis PE1 5 +NX_Q9Y5P6 Mannose-1-phosphate guanyltransferase beta 360 39834 6.16 0 Nucleoplasm;Cytoplasm Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14;Muscular dystrophy-dystroglycanopathy limb-girdle C14 Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids. NA Belongs to the transferase hexapeptide repeat family. Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; GDP-alpha-D-mannose from alpha-D-mannose 1-phosphate (GTP route): step 1/1.;Fructose and mannose metabolism;Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Synthesis of GDP-mannose PE1 3 +NX_Q9Y5P8 Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta 575 65061 5.01 0 Nucleoplasm;Nucleus NA The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. NA NA mRNA surveillance pathway;Dopaminergic synapse;Cyclin A/B1/B2 associated events during G2/M transition;Inhibition of replication initiation of damaged DNA by RB1/E2F1;Cyclin D associated events in G1 PE1 X +NX_Q9Y5Q0 Fatty acid desaturase 3 445 51145 7.42 4 Endoplasmic reticulum membrane;Nucleolus NA Acts as a methyl-end fatty acyl coenzyme A (CoA) desaturase that introduces a cis double bond between the preexisting double bond and the terminal methyl group of the fatty acyl chain. Desaturates (11E)-octadecenoate (trans-vaccenoate) at carbon 13 to generate (11E,13Z)-octadecadienoate, likely participating in the biohydrogenation pathway of linoleic acid (LA) (18:2n-6). NA Belongs to the fatty acid desaturase type 1 family. Lipid metabolism; polyunsaturated fatty acid biosynthesis. PE1 11 +NX_Q9Y5Q3 Transcription factor MafB 323 35792 7.17 0 Golgi apparatus;Nucleolus;Nucleoplasm;Cytosol;Nucleus Multicentric carpotarsal osteolysis syndrome;Duane retraction syndrome 3 with or without deafness Acts as a transcriptional activator or repressor (PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to specify macrophage fate. Binds element G1 on the glucagon promoter (By similarity). Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Sumoylated. Sumoylation on Lys-32 and Lys-297 stimulates its transcriptional repression activity and promotes macrophage differentiation from myeloid progenitors (By similarity).;Phosphorylated by GSK3 and MAPK13 on serine and threonine residues. Belongs to the bZIP family. Maf subfamily. Activation of anterior HOX genes in hindbrain development during early embryogenesis PE1 20 +NX_Q9Y5Q5 Atrial natriuretic peptide-converting enzyme 1042 116486 4.87 1 Nucleus;Secreted;Cytoskeleton;Cell membrane Pre-eclampsia/eclampsia 5 Has weaker endopeptidase activity compared to isoform 1.;Serine-type endopeptidase involved in atrial natriuretic peptide hormone (NPPA) processing. Converts through proteolytic cleavage the non-functional propeptide NPPA into the active hormone, thereby regulating blood pressure in heart and promoting natriuresis, diuresis and vasodilation. Proteolytic cleavage of pro-NPPA also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Also acts as a regulator of sodium reabsorption in kidney. May also process pro-NPPB the B-type natriuretic peptide. Activated through proteolytic processing by a trypsin-like protease; cleaved into a N-terminal propeptide and an activated corin protease fragment. Different soluble forms are produced by cleavage and autocatalytic cleavage: Atrial natriuretic peptide-converting enzyme, 180 kDa soluble fragment is produced by cleavage by ADAM10, while 160 kDa and 100 kDa soluble fragments are produced by autocatalytic cleavage. Cleavage by ADAM10 to produce soluble 180 kDa soluble fragment takes place after the transmembrane region and before FZ 1.;A disulfide bond links the activated corin protease fragment and the N-terminal propeptide. The disulfide bond also links the activated corin protease fragment with soluble fragments (100 kDa, 160 kDa and 180 kDa fragments).;N-glycosylated; required for processing and activation. Belongs to the peptidase S1 family. Physiological factors PE1 4 +NX_Q9Y5Q6 Insulin-like peptide INSL5 135 15333 6.81 0 Secreted NA May have a role in gut contractility or in thymic development and regulation. Activates RXFP4 with high potency and appears to be the endogenous ligand for this receptor. NA Belongs to the insulin family. G alpha (i) signalling events;Relaxin receptors PE1 1 +NX_Q9Y5Q8 General transcription factor 3C polypeptide 5 519 59571 6.47 0 Nucleoplasm;Nucleus NA Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters. NA Belongs to the TFIIIC subunit 5 family. RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter PE1 9 +NX_Q9Y5Q9 General transcription factor 3C polypeptide 3 886 101272 4.98 0 Nucleoplasm;Nucleus;Nucleus membrane NA Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters. NA NA RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter PE1 2 +NX_Q9Y5R2 Matrix metalloproteinase-24 645 73231 9.3 1 trans-Golgi network membrane;Extracellular matrix;Nucleolus;Cell membrane NA Metalloprotease that mediates cleavage of N-cadherin (CDH2) and acts as a regulator of neuro-immune interactions and neural stem cell quiescence. Involved in cell-cell interactions between nociceptive neurites and mast cells, possibly by mediating cleavage of CDH2, thereby acting as a mediator of peripheral thermal nociception and inflammatory hyperalgesia. Key regulator of neural stem cells quiescence by mediating cleavage of CDH2, affecting CDH2-mediated anchorage of neural stem cells to ependymocytes in the adult subependymal zone, leading to modulate their quiescence. May play a role in axonal growth. Able to activate progelatinase A. May also be a proteoglycanase involved in degradation of proteoglycans, such as dermatan sulfate and chondroitin sulfate proteoglycans. Cleaves partially fibronectin, but not collagen type I, nor laminin (By similarity). Cleaved by a furin endopeptidase in the trans-Golgi network. Belongs to the peptidase M10A family. Activation of Matrix Metalloproteinases PE1 20 +NX_Q9Y5R4 MTRF1L release factor glutamine methyltransferase 338 38231 6.22 0 Mitochondrion NA N5-glutamine methyltransferase responsible for the methylation of the glutamine residue in the universally conserved GGQ motif of the mitochondrial translation release factor MTRF1L. NA Belongs to the protein N5-glutamine methyltransferase family. Histidine metabolism;Tyrosine metabolism PE1 3 +NX_Q9Y5R5 Doublesex- and mab-3-related transcription factor 2 561 61814 6.37 0 Nucleus NA Transcriptional activator that directly regulates early activation of the myogenic determination gene MYF5 by binding in a sequence-specific manner to the early epaxial enhancer element of it. Involved in somitogenesis during embryogenesis and somite development and differentiation into sclerotome and dermomyotome. Required for the initiation and/or maintenance of proper organization of the sclerotome, dermomyotome and myotome (By similarity). NA Belongs to the DMRT family. NA PE1 9 +NX_Q9Y5R6 Doublesex- and mab-3-related transcription factor 1 373 39473 7.54 0 Nucleus Testicular germ cell tumor;46,XY sex reversal 4 Transcription factor that plays a key role in male sex determination and differentiation by controlling testis development and male germ cell proliferation. Plays a central role in spermatogonia by inhibiting meiosis in undifferentiated spermatogonia and promoting mitosis, leading to spermatogonial development and allowing abundant and continuous production of sperm. Acts both as a transcription repressor and activator: prevents meiosis by restricting retinoic acid (RA)-dependent transcription and repressing STRA8 expression and promotes spermatogonial development by activating spermatogonial differentiation genes, such as SOHLH1. Also plays a key role in postnatal sex maintenance by maintaining testis determination and preventing feminization: represses transcription of female promoting genes such as FOXL2 and activates male-specific genes. May act as a tumor suppressor. May also play a minor role in oogenesis (By similarity). NA Belongs to the DMRT family. NA PE1 9 +NX_Q9Y5R8 Trafficking protein particle complex subunit 1 145 16832 9.23 0 cis-Golgi network;Endoplasmic reticulum NA May play a role in vesicular transport from endoplasmic reticulum to Golgi. NA Belongs to the TRAPP small subunits family. BET5 subfamily. COPII-mediated vesicle transport;Neutrophil degranulation;RAB GEFs exchange GTP for GDP on RABs PE1 17 +NX_Q9Y5S1 Transient receptor potential cation channel subfamily V member 2 764 85981 5.56 6 Cytoplasm;Melanosome;Cell membrane NA Calcium-permeable, non-selective cation channel with an outward rectification. Seems to be regulated, at least in part, by IGF-I, PDGF and neuropeptide head activator. May transduce physical stimuli in mast cells. Activated by temperatures higher than 52 degrees Celsius; is not activated by vanilloids and acidic pH. N-glycosylated.;Phosphorylated by PKA. Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV2 sub-subfamily. TRP channels PE1 17 +NX_Q9Y5S2 Serine/threonine-protein kinase MRCK beta 1711 194315 5.97 0 Cytoplasm;Lamellipodium;Cell junction;Cell membrane NA Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration. Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2 (PubMed:21457715, PubMed:21949762). In concert with MYO18A and LURAP1, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). Phosphorylates PPP1R12A (PubMed:21457715). In concert with FAM89B/LRAP25 mediates the targeting of LIMK1 to the lamellipodium resulting in its activation and subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation (By similarity). NA Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily. NA PE1 14 +NX_Q9Y5S8 NADPH oxidase 1 564 64871 8.79 6 Invadopodium membrane;Cell membrane NA NOH-1S is a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes and other tissues. It participates in the regulation of cellular pH and is blocked by zinc. NOH-1L is a pyridine nucleotide-dependent oxidoreductase that generates superoxide and might conduct H(+) ions as part of its electron transport mechanism, whereas NOH-1S does not contain an electron transport chain. NA NA Phagosome;Osteoclast differentiation;Leukocyte transendothelial migration;RHO GTPases Activate NADPH Oxidases PE1 X +NX_Q9Y5S9 RNA-binding protein 8A 174 19889 5.5 0 Cytoplasm;Nucleus speckle;Nucleus Thrombocytopenia-absent radius syndrome Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:29301961). Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). The MAGOH-RBM8A heterodimer inhibits the ATPase activity of EIF4A3, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. The MAGOH-RBM8A heterodimer interacts with the EJC key regulator PYM1 leading to EJC disassembly in the cytoplasm and translation enhancement of EJC-bearing spliced mRNAs by recruiting them to the ribosomal 48S preinitiation complex. Its removal from cytoplasmic mRNAs requires translation initiation from EJC-bearing spliced mRNAs. Associates preferentially with mRNAs produced by splicing. Does not interact with pre-mRNAs, introns, or mRNAs produced from intronless cDNAs. Associates with both nuclear mRNAs and newly exported cytoplasmic mRNAs. The MAGOH-RBM8A heterodimer is a component of the nonsense mediated decay (NMD) pathway. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the function is different from the established EJC assembly. NA Belongs to the RBM8A family. RNA transport;mRNA surveillance pathway;Spliceosome;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Major Pathway;mRNA 3'-end processing;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Regulation of expression of SLITs and ROBOs;RNA Polymerase II Transcription Termination PE1 1 +NX_Q9Y5T4 DnaJ homolog subfamily C member 15 150 16383 10.08 1 Mitochondrion inner membrane NA Negative regulator of the mitochondrial respiratory chain. Prevents mitochondrial hyperpolarization state and restricts mitochondrial generation of ATP (By similarity). Acts as an import component of the TIM23 translocase complex. Stimulates the ATPase activity of HSPA9. NA NA NA PE1 13 +NX_Q9Y5T5 Ubiquitin carboxyl-terminal hydrolase 16 823 93570 6.5 0 Nucleoplasm;Cytosol;Nucleus NA Specifically deubiquitinates 'Lys-120' of histone H2A (H2AK119Ub), a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Deubiquitination of histone H2A is a prerequisite for subsequent phosphorylation at 'Ser-11' of histone H3 (H3S10ph), and is required for chromosome segregation when cells enter into mitosis. In resting B- and T-lymphocytes, phosphorylation by AURKB leads to enhance its activity, thereby maintaining transcription in resting lymphocytes. Regulates Hox gene expression via histone H2A deubiquitination. Prefers nucleosomal substrates. Does not deubiquitinate histone H2B. Phosphorylated at the onset of mitosis and dephosphorylated during the metaphase/anaphase transition. Phosphorylation by AURKB enhances the deubiquitinase activity. Belongs to the peptidase C19 family. USP16 subfamily. Ub-specific processing proteases PE1 21 +NX_Q9Y5U2 Protein TSSC4 329 34326 5.07 0 Nucleoplasm;Cytosol NA NA NA Belongs to the TSSC4 family. NA PE1 11 +NX_Q9Y5U4 Insulin-induced gene 2 protein 225 24778 8.16 5 Endoplasmic reticulum membrane NA Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2 complex in the ER thus preventing it from escorting SREBPs to the Golgi. Seems to regulate the ubiquitin-mediated proteasomal degradation of HMGCR. NA Belongs to the INSIG family. Regulation of cholesterol biosynthesis by SREBP (SREBF) PE1 2 +NX_Q9Y5U5 Tumor necrosis factor receptor superfamily member 18 241 26000 5.97 1 Secreted;Cell membrane NA Receptor for TNFSF18. Seems to be involved in interactions between activated T-lymphocytes and endothelial cells and in the regulation of T-cell receptor-mediated cell death. Mediated NF-kappa-B activation via the TRAF2/NIK pathway. NA NA Cytokine-cytokine receptor interaction;TNFs bind their physiological receptors;RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) PE1 1 +NX_Q9Y5U8 Mitochondrial pyruvate carrier 1 109 12347 9.67 2 Mitochondrion inner membrane;Mitochondrion Mitochondrial pyruvate carrier deficiency Mediates the uptake of pyruvate into mitochondria. NA Belongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family. Pyruvate metabolism PE1 6 +NX_Q9Y5U9 Immediate early response 3-interacting protein 1 82 8969 7.96 2 Endoplasmic reticulum;Endoplasmic reticulum membrane Microcephaly, epilepsy, and diabetes syndrome May be implicated in the regulation of apoptosis. May be involved in protein transport between endoplasmic reticulum and Golgi apparatus (By similarity). NA Belongs to the YOS1 family. NA PE1 18 +NX_Q9Y5V0 Zinc finger protein 706 76 8498 10.02 0 Cytoplasm;Nucleus;Cell membrane NA Transcription repressor involved in the exit of embryonic stem cells (ESCs) from self-renewal. Acts by repressing expression of KLF4. NA NA Generic Transcription Pathway PE1 8 +NX_Q9Y5V3 Melanoma-associated antigen D1 778 86161 5.64 0 Cytoplasm;Cytosol;Nucleus;Cell membrane NA Involved in the apoptotic response after nerve growth factor (NGF) binding in neuronal cells. Inhibits cell cycle progression, and facilitates NGFR-mediated apoptosis. May act as a regulator of the function of DLX family members. May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Plays a role in the circadian rhythm regulation. May act as RORA co-regulator, modulating the expression of core clock genes such as ARNTL/BMAL1 and NFIL3, induced, or NR1D1, repressed. NA NA Neurotrophin signaling pathway;NRAGE signals death through JNK;Caspase activation via Dependence Receptors in the absence of ligand PE1 X +NX_Q9Y5W3 Krueppel-like factor 2 355 37420 9.06 0 Nucleoplasm;Nucleus NA Transcription factor that binds to the CACCC box in the promoter of target genes such as HBB/beta globin or NOV and activates their transcription (PubMed:21063504). Might be involved in transcriptional regulation by modulating the binding of the RARA nuclear receptor to RARE DNA elements (PubMed:28167758). Ubiquitinated. Polyubiquitination involves WWP1 and leads to proteasomal degradation of this protein (By similarity). Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q9Y5W5 Wnt inhibitory factor 1 379 41528 7.84 0 Secreted NA Binds to WNT proteins and inhibits their activities. May be involved in mesoderm segmentation. NA NA Wnt signaling pathway;TCF dependent signaling in response to WNT;Negative regulation of TCF-dependent signaling by WNT ligand antagonists PE1 12 +NX_Q9Y5W7 Sorting nexin-14 946 110182 6.28 2 Cytosol;Lysosome membrane;Dendrite;Late endosome membrane Spinocerebellar ataxia, autosomal recessive, 20 Plays a role in maintaining normal neuronal excitability and synaptic transmission. May be involved in several stages of intracellular trafficking (By similarity). Required for autophagosome clearance, possibly by mediating the fusion of lysosomes with autophagosomes (Probable). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2), a key component of late endosomes/lysosomes (PubMed:25848753). Does not bind phosphatidylinositol 3-phosphate (PtdIns(3P)) (PubMed:25848753, PubMed:25148684). NA Belongs to the sorting nexin family. NA PE1 6 +NX_Q9Y5W8 Sorting nexin-13 968 112189 6.15 0 Early endosome membrane NA May be involved in several stages of intracellular trafficking. May play a role in endosome homeostasis (By similarity). Acts as a GAP for Galphas. NA Belongs to the sorting nexin family. NA PE1 7 +NX_Q9Y5W9 Sorting nexin-11 270 30433 6.61 0 Membrane;Endosome;Cytosol NA Phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. NA Belongs to the sorting nexin family. NA PE1 17 +NX_Q9Y5X0 Sorting nexin-10 201 23598 5.5 0 Cytoplasm;Endosome membrane;Nucleolus;Nucleoplasm;Centrosome;Cytoskeleton Osteopetrosis, autosomal recessive 8 Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A. Involved in osteoclast differentiation and therefore bone resorption. NA Belongs to the sorting nexin family. NA PE1 7 +NX_Q9Y5X1 Sorting nexin-9 595 66592 5.4 0 trans-Golgi network;Cytoplasm;Clathrin-coated vesicle;Cell membrane;Cytoplasmic vesicle membrane;Ruffle;Cytosol NA Involved in endocytosis and intracellular vesicle trafficking, both during interphase and at the end of mitosis. Required for efficient progress through mitosis and cytokinesis. Required for normal formation of the cleavage furrow at the end of mitosis. Plays a role in endocytosis via clathrin-coated pits, but also clathrin-independent, actin-dependent fluid-phase endocytosis. Plays a role in macropinocytosis. Promotes internalization of TNFR. Promotes degradation of EGFR after EGF signaling. Stimulates the GTPase activity of DNM1. Promotes DNM1 oligomerization. Promotes activation of the Arp2/3 complex by WASL, and thereby plays a role in the reorganization of the F-actin cytoskeleton. Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate and promotes membrane tubulation. Has lower affinity for membranes enriched in phosphatidylinositol 3-phosphate. Phosphorylated on tyrosine residues by TNK2. Phosphorylation promotes its activity in the degradation of EGFR.;Ubiquitinated by ITCH. Belongs to the sorting nexin family. Golgi Associated Vesicle Biogenesis;Clathrin-mediated endocytosis PE1 6 +NX_Q9Y5X2 Sorting nexin-8 465 52569 6.96 0 Early endosome membrane;Cytoplasmic vesicle NA May be involved in several stages of intracellular trafficking. May play a role in intracellular protein transport from early endosomes to the trans-Golgi network. NA Belongs to the sorting nexin family. NA PE1 7 +NX_Q9Y5X3 Sorting nexin-5 404 46816 6.31 0 Cytoplasm;Cell membrane;Early endosome;Cytoplasmic vesicle membrane;Endosome;Phagocytic cup;Ruffle;Early endosome membrane;Cytoplasmic vesicle;Cytosol NA Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (PubMed:15561769). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC) (Probable). Does not have in vitro vesicle-to-membrane remodeling activity (PubMed:23085988). Involved in retrograde transport of lysosomal enzyme receptor IGF2R (PubMed:17148574, PubMed:18596235). May function as link between endosomal transport vesicles and dynactin (Probable). Plays a role in the internalization of EGFR after EGF stimulation (Probable). Involved in EGFR endosomal sorting and degradation; the function involves PIP5K1C isoform 3 and is retromer-independent (PubMed:23602387). Together with PIP5K1C isoform 3 facilitates HGS interaction with ubiquitinated EGFR, which initiates EGFR sorting to intraluminal vesicles (ILVs) of the multivesicular body for subsequent lysosomal degradation (Probable). Involved in E-cadherin sorting and degradation; inhibits PIP5K1C isoform 3-mediated E-cadherin degradation (PubMed:24610942). Plays a role in macropinocytosis (PubMed:18854019, PubMed:21048941). NA Belongs to the sorting nexin family. Golgi Associated Vesicle Biogenesis PE1 20 +NX_Q9Y5X4 Photoreceptor-specific nuclear receptor 410 44692 8.17 0 Nucleus Enhanced S cone syndrome;Retinitis pigmentosa 37 Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression. Di- and tri-sumoylated in developing retina. PIAS3-mediated sumoylation promotes repression of cone-specific gene expression and activation of rod-specific genes. Sumoylation on Lys-185 appears to be the main site (By similarity). Belongs to the nuclear hormone receptor family. NR2 subfamily. Nuclear Receptor transcription pathway PE1 15 +NX_Q9Y5X5 Neuropeptide FF receptor 2 522 60270 9.43 7 Cytoskeleton;Cell membrane NA Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. NA Belongs to the G-protein coupled receptor 1 family. Neuroactive ligand-receptor interaction;G alpha (q) signalling events;Orexin and neuropeptides FF and QRFP bind to their respective receptors PE1 4 +NX_Q9Y5X9 Endothelial lipase 500 56795 8.13 0 Secreted NA Has phospholipase and triglyceride lipase activities. Hydrolyzes high density lipoproteins (HDL) more efficiently than other lipoproteins. Binds heparin. NA Belongs to the AB hydrolase superfamily. Lipase family. Glycerolipid metabolism;Metabolic pathways;HDL remodeling PE1 18 +NX_Q9Y5Y0 Feline leukemia virus subgroup C receptor-related protein 1 555 59863 5.72 12 Mitochondrion membrane;Cell junction;Cell membrane Posterior column ataxia with retinitis pigmentosa Heme transporter that promotes heme efflux from the mitochondrion to the cytoplasm. Essential for erythroid differentiation.;Heme transporter that exports cytoplasmic heme. It can also export coproporphyrin and protoporphyrin IX, which are both intermediate products in the heme biosynthetic pathway. Does not export bilirubin. Heme export depends on the presence of HPX and is required to maintain intracellular free heme balance, protecting cells from heme toxicity. Heme export provides protection from heme or ferrous iron toxicities in liver, brain, sensory neurons and during erythtopoiesis, a process in which heme synthesis intensifies. Causes susceptibility to FeLV-C in vitro. N-Glycosylated. Belongs to the major facilitator superfamily. Feline leukemia virus subgroup C receptor (TC 2.A.1.28.1) family. Iron uptake and transport PE1 1 +NX_Q9Y5Y2 Cytosolic Fe-S cluster assembly factor NUBP2 271 28825 5.55 0 Cytoplasm;Microtubule organizing center;Centriole;Nucleoplasm;Centrosome;Cilium axoneme;Cytosol;Nucleus NA Component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery. Required for maturation of extramitochondrial Fe-S proteins. The NUBP1-NUBP2 heterotetramer forms a Fe-S scaffold complex, mediating the de novo assembly of an Fe-S cluster and its transfer to target apoproteins. Negatively regulates cilium formation and structure. NA Belongs to the Mrp/NBP35 ATP-binding proteins family. NUBP2/CFD1 subfamily. Cytosolic iron-sulfur cluster assembly PE1 16 +NX_Q9Y5Y3 Probable G-protein coupled receptor 45 372 41967 9.45 7 Cell membrane NA Orphan receptor. May play a role in brain function. NA Belongs to the G-protein coupled receptor 1 family. G alpha (s) signalling events PE2 2 +NX_Q9Y5Y4 Prostaglandin D2 receptor 2 395 43268 10.52 7 Cell membrane NA Receptor for prostaglandin D2 (PGD2). Coupled to the G(i)-protein. Receptor activation may result in pertussis toxin-sensitive decreases in cAMP levels and Ca(2+) mobilization. PI3K signaling is also implicated in mediating PTGDR2 effects. PGD2 induced receptor internalization. CRTH2 internalization can be regulated by diverse kinases such as, PKC, PKA, GRK2, GPRK5/GRK5 and GRK6. Receptor activation is responsible, at least in part, in immune regulation and allergic/inflammation responses. Phosphorylated. Belongs to the G-protein coupled receptor 1 family. G alpha (i) signalling events;Prostanoid ligand receptors PE1 11 +NX_Q9Y5Y5 Peroxisomal membrane protein PEX16 336 38629 9.85 2 Peroxisome membrane Peroxisome biogenesis disorder complementation group 9;Peroxisome biogenesis disorder 8B;Peroxisome biogenesis disorder 8A Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3. NA Belongs to the peroxin-16 family. Peroxisome;Class I peroxisomal membrane protein import PE1 11 +NX_Q9Y5Y6 Suppressor of tumorigenicity 14 protein 855 94770 6.11 1 Membrane;Cytoplasmic vesicle;Nucleoplasm Ichthyosis, congenital, autosomal recessive 11 Degrades extracellular matrix. Proposed to play a role in breast cancer invasion and metastasis. Exhibits trypsin-like activity as defined by cleavage of synthetic substrates with Arg or Lys as the P1 site. Involved in the terminal differentiation of keratinocytes through prostasin (PRSS8) activation and filaggrin (FLG) processing. NA Belongs to the peptidase S1 family. Formation of the cornified envelope PE1 11 +NX_Q9Y5Y7 Lymphatic vessel endothelial hyaluronic acid receptor 1 322 35213 8.59 1 Membrane NA Ligand-specific transporter trafficking between intracellular organelles (TGN) and the plasma membrane. Plays a role in autocrine regulation of cell growth mediated by growth regulators containing cell surface retention sequence binding (CRS). May act as a hyaluronan (HA) transporter, either mediating its uptake for catabolism within lymphatic endothelial cells themselves, or its transport into the lumen of afferent lymphatic vessels for subsequent re-uptake and degradation in lymph nodes. O-glycosylated. NA Hyaluronan uptake and degradation PE1 11 +NX_Q9Y5Y9 Sodium channel protein type 10 subunit alpha 1956 220626 5.67 24 Cell membrane Episodic pain syndrome, familial, 2 Tetrodotoxin-resistant channel that mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. Plays a role in neuropathic pain mechanisms. Phosphorylation at Ser-1451 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.;Lacks the cysteine which covalently binds the conotoxin GVIIJ. This cysteine (position 816) is speculated in other sodium channel subunits alpha to be implied in covalent binding with the sodium channel subunit beta-2 or beta-4.;Ubiquitinated by NEDD4L; which promotes its endocytosis. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.8/SCN10A subfamily. Interaction between L1 and Ankyrins;Phase 0 - rapid depolarisation PE1 3 +NX_Q9Y5Z0 Beta-secretase 2 518 56180 5.05 1 Endoplasmic reticulum;Golgi apparatus;Endosome;Cell membrane NA Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves APP, between residues 690 and 691, leading to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase. It has also been shown that it can cleave APP between residues 671 and 672. Responsible also for the proteolytic processing of CLTRN in pancreatic beta cells (PubMed:21907142). Undergoes autoproteolytic cleavage.;Glycosylated. Belongs to the peptidase A1 family. Alzheimer's disease PE1 21 +NX_Q9Y5Z4 Heme-binding protein 2 205 22875 4.58 0 Cytoplasm;Mitochondrion NA Can promote mitochondrial permeability transition and facilitate necrotic cell death under different types of stress conditions. NA Belongs to the HEBP family. Neutrophil degranulation PE1 6 +NX_Q9Y5Z6 Beta-1,3-galactosyltransferase 1 326 37993 9.38 1 Golgi apparatus membrane NA Beta-1,3-galactosyltransferase that transfers galactose from UDP-alpha-D-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N-acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc) residues. NA Belongs to the glycosyltransferase 31 family. Protein modification; protein glycosylation.;Glycosphingolipid biosynthesis - lacto and neolacto series;Metabolic pathways;Lewis blood group biosynthesis PE1 2 +NX_Q9Y5Z7 Host cell factor 2 792 86779 8.75 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA NA NA NA Herpes simplex infection PE1 12 +NX_Q9Y5Z9 UbiA prenyltransferase domain-containing protein 1 338 36831 8.4 8 Cytoplasm;Endoplasmic reticulum membrane;Golgi apparatus membrane;Mitochondrion membrane;Cytoplasmic vesicle;Nucleus Corneal dystrophy, Schnyder type Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10. MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development. Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2-methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4. Also plays a role in cardiovascular development independently of MK-4 biosynthesis, by acting as a coenzyme Q10 biosynthetic enzyme: coenzyme Q10, also named ubiquinone, plays an important antioxidant role in the cardiovascular system. Mediates biosynthesis of coenzyme Q10 in the Golgi membrane, leading to protect cardiovascular tissues from NOS3/eNOS-dependent oxidative stress. NA Belongs to the UbiA prenyltransferase family. Cofactor biosynthesis; ubiquinone biosynthesis.;Quinol/quinone metabolism; menaquinone biosynthesis.;Metabolism of vitamin K PE1 1 +NX_Q9Y600 Cysteine sulfinic acid decarboxylase 493 55023 6.06 0 NA NA Catalyzes the decarboxylation of L-aspartate, 3-sulfino-L-alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively. The preferred substrate is 3-sulfino-L-alanine. Does not exhibit any decarboxylation activity toward glutamate. NA Belongs to the group II decarboxylase family. Organosulfur biosynthesis; taurine biosynthesis; hypotaurine from L-cysteine: step 2/2.;Taurine and hypotaurine metabolism;Metabolic pathways;Degradation of cysteine and homocysteine PE1 12 +NX_Q9Y603 Transcription factor ETV7 341 38998 8.27 0 Nucleoplasm;Nucleus NA Does not seem to have a repressor activity.;Does not seem to have a repressor activity.;Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. NA Belongs to the ETS family. Dorso-ventral axis formation PE1 6 +NX_Q9Y605 MORF4 family-associated protein 1 127 14650 4.69 0 Nucleoplasm;Perinuclear region;Nucleus NA NA NA Belongs to the MORF4 family-associated protein family. NA PE1 4 +NX_Q9Y606 tRNA pseudouridine synthase A 427 47470 8.69 0 Nucleoplasm;Mitochondrion;Nucleus Myopathy with lactic acidosis and sideroblastic anemia 1 Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity through pseudouridylation of SRA1 RNA. NA Belongs to the tRNA pseudouridine synthase TruA family. tRNA modification in the nucleus and cytosol;tRNA modification in the mitochondrion PE1 12 +NX_Q9Y608 Leucine-rich repeat flightless-interacting protein 2 721 82171 6.5 0 Cell membrane;Cytoskeleton NA May function as activator of the canonical Wnt signaling pathway, in association with DVL3, upstream of CTNNB1/beta-catenin. Positively regulates Toll-like receptor (TLR) signaling in response to agonist probably by competing with the negative FLII regulator for MYD88-binding. Ser-190 and Ser-202 are phosphorylated in response to LPS stimulation. Ser-202 phosphorylation regulates the LPS-induced interaction with MYD88. Belongs to the LRRFIP family. NA PE1 3 +NX_Q9Y613 FH1/FH2 domain-containing protein 1 1164 126551 6.01 0 Bleb;Cytoplasm;Cytosol;Cytoskeleton NA Required for the assembly of F-actin structures, such as stress fibers. Depends on the Rho-ROCK cascade for its activity. Contributes to the coordination of microtubules with actin fibers and plays a role in cell elongation. Acts synergistically with ROCK1 to promote SRC-dependent non-apoptotic plasma membrane blebbing. Phosphorylated by ROCK1. Belongs to the formin homology family. NA PE1 16 +NX_Q9Y614 Actin-like protein 7B 415 45234 5.32 0 Cytoskeleton NA NA NA Belongs to the actin family. NA PE1 9 +NX_Q9Y615 Actin-like protein 7A 435 48644 6.64 0 Golgi apparatus;Cytoplasm;Nucleus;Cytoskeleton NA NA NA Belongs to the actin family. NA PE1 9 +NX_Q9Y616 Interleukin-1 receptor-associated kinase 3 596 67767 6.25 0 Cytoplasmic vesicle Asthma-related traits 5 Inhibits dissociation of IRAK1 and IRAK4 from the Toll-like receptor signaling complex by either inhibiting the phosphorylation of IRAK1 and IRAK4 or stabilizing the receptor complex. IRAK3 is phosphorylated by IRAK1 (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Pelle subfamily. Apoptosis;Neurotrophin signaling pathway;MyD88:MAL(TIRAP) cascade initiated on plasma membrane;Interleukin-1 signaling PE1 12 +NX_Q9Y617 Phosphoserine aminotransferase 370 40423 7.56 0 Cytosol Neu-Laxova syndrome 2;Phosphoserine aminotransferase deficiency Catalyzes the reversible conversion of 3-phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4-phosphonooxybutanoate to phosphohydroxythreonine. NA Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. SerC subfamily. Cofactor biosynthesis; pyridoxine 5'-phosphate biosynthesis; pyridoxine 5'-phosphate from D-erythrose 4-phosphate: step 3/5.;Amino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glycerate: step 2/3.;Glycine, serine and threonine metabolism;Vitamin B6 metabolism;Metabolic pathways;Serine biosynthesis PE1 9 +NX_Q9Y618 Nuclear receptor corepressor 2 2514 273657 7.21 0 Nucleoplasm;Nucleus NA Transcriptional corepressor (PubMed:20812024). Mediates the transcriptional repression activity of some nuclear receptors by promoting chromatin condensation, thus preventing access of the basal transcription.;Have different affinities for different nuclear receptors. Involved in the regulation BCL6-dependent of the germinal center (GC) reactions, mainly through the control of the GC B-cells proliferation and survival. Recruited by ZBTB7A to the androgen response elements/ARE on target genes, negatively regulates androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). NA Belongs to the N-CoR nuclear receptor corepressors family. Notch signaling pathway;PPARA activates gene expression;Downregulation of SMAD2/3:SMAD4 transcriptional activity;HDACs deacetylate histones;Notch-HLH transcription pathway;Nuclear Receptor transcription pathway;NOTCH1 Intracellular Domain Regulates Transcription;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Transcriptional regulation of white adipocyte differentiation;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);SUMOylation of transcription cofactors;Regulation of MECP2 expression and activity;Loss of MECP2 binding ability to the NCoR/SMRT complex PE1 12 +NX_Q9Y619 Mitochondrial ornithine transporter 1 301 32736 9.28 6 Mitochondrion inner membrane Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Ornithine-citrulline antiporter. Connects the cytosolic and the intramitochondrial reactions of the urea cycle by exchanging cytosolic ornithine with matrix citrulline (PubMed:12807890). The stoichiometry is close to 1:1 (By similarity). NA Belongs to the mitochondrial carrier (TC 2.A.29) family. Urea cycle PE1 13 +NX_Q9Y620 DNA repair and recombination protein RAD54B 910 102967 8.44 0 Nucleus NA Involved in DNA repair and mitotic recombination. May play an active role in recombination processes in concert with other members of the RAD52 epistasis group. NA Belongs to the SNF2/RAD54 helicase family. Homologous recombination PE1 8 +NX_Q9Y623 Myosin-4 1939 223071 5.65 0 Myofibril NA Muscle contraction. NA Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Tight junction;Viral myocarditis PE1 17 +NX_Q9Y624 Junctional adhesion molecule A 299 32583 8.09 1 Tight junction;Cell junction;Cytoskeleton;Cell membrane NA (Microbial infection) Acts as a receptor for Human Rotavirus strain Wa.;(Microbial infection) Acts as a receptor for Mammalian reovirus sigma-1.;Seems to play a role in epithelial tight junction formation. Appears early in primordial forms of cell junctions and recruits PARD3 (PubMed:11489913). The association of the PARD6-PARD3 complex may prevent the interaction of PARD3 with JAM1, thereby preventing tight junction assembly (By similarity). Plays a role in regulating monocyte transmigration involved in integrity of epithelial barrier (By similarity). Ligand for integrin alpha-L/beta-2 involved in memory T-cell and neutrophil transmigration (PubMed:11812992). Involved in platelet activation (PubMed:10753840). N-glycosylated. Belongs to the immunoglobulin superfamily. Cell adhesion molecules (CAMs);Tight junction;Leukocyte transendothelial migration;Epithelial cell signaling in Helicobacter pylori infection;TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition);Tight junction interactions;Integrin cell surface interactions;Cell surface interactions at the vascular wall PE1 1 +NX_Q9Y625 Glypican-6 555 62736 5.29 0 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Extracellular space Omodysplasia 1 Cell surface proteoglycan that bears heparan sulfate. Putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases (By similarity). Enhances migration and invasion of cancer cells through WNT5A signaling. NA Belongs to the glypican family. Retinoid metabolism and transport;HS-GAG biosynthesis;A tetrasaccharide linker sequence is required for GAG synthesis;HS-GAG degradation;Defective B4GALT7 causes EDS, progeroid type;Defective B3GAT3 causes JDSSDHD;Defective EXT2 causes exostoses 2;Defective EXT1 causes exostoses 1, TRPS2 and CHDS;Defective B3GALT6 causes EDSP2 and SEMDJL1 PE1 13 +NX_Q9Y639 Neuroplastin 398 44387 8.11 1 Mitochondrion;Postsynaptic density;Cytoskeleton;Cell membrane NA Probable homophilic and heterophilic cell adhesion molecule involved in long term potentiation at hippocampal excitatory synapses through activation of p38MAPK. May also regulate neurite outgrowth by activating the FGFR1 signaling pathway. May play a role in synaptic plasticity (By similarity). NA NA GABA receptor activation PE1 15 +NX_Q9Y644 Beta-1,3-N-acetylglucosaminyltransferase radical fringe 331 36424 9.3 1 Nucleoplasm;Golgi apparatus membrane NA Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in enhancement of NOTCH1 activation by DLL1 and JAG1. May be involved in limb formation and in neurogenesis. NA Belongs to the glycosyltransferase 31 family. Other types of O-glycan biosynthesis;Notch signaling pathway;Pre-NOTCH Processing in Golgi PE1 17 +NX_Q9Y646 Carboxypeptidase Q 472 51888 5.79 0 Golgi apparatus;Secreted;Endoplasmic reticulum;Lysosome;Cytoplasmic vesicle NA Carboxypeptidase that may play an important role in the hydrolysis of circulating peptides. Catalyzes the hydrolysis of dipeptides with unsubstituted terminals into amino acids. May play a role in the liberation of thyroxine hormone from its thyroglobulin (Tg) precursor. N-glycosylated. The secreted form is modified by hybrid or complex type oligosaccharide chains (By similarity). Belongs to the peptidase M28 family. NA PE1 8 +NX_Q9Y651 Transcription factor SOX-21 276 28580 9.74 0 Nucleoplasm;Nucleus NA May play a role as an activator of transcription of OPRM1. NA NA NA PE1 13 +NX_Q9Y653 Adhesion G-protein coupled receptor G1 693 77738 8.79 7 Membrane raft;Secreted;Cell membrane Polymicrogyria, bilateral frontoparietal;Polymicrogyria, bilateral perisylvian, autosomal recessive ADGRG1 N-terminal fragment: Plays a critical role in cancer progression by activating VEGFA production and angiogenesis through a signaling pathway mediated by PRKCA (PubMed:21724588).;Receptor involved in cell adhesion and probably in cell-cell interactions. Mediates cell matrix adhesion in developing neurons and hematopoietic stem cells. Receptor for collagen III/COL3A1 in the developing brain and involved in regulation of cortical development, specifically in maintenance of the pial basement membrane integrity and in cortical lamination (By similarity). Binding to the COL3A1 ligand inhibits neuronal migration and activates the RhoA pathway by coupling to GNA13 and possibly GNA12 (PubMed:22238662). Plays a role in the maintenance of hematopoietic stem cells and/or leukemia stem cells in bone marrow niche (By similarity). Plays a critical role in cancer progression by inhibiting VEGFA production threreby inhibiting angiogenesis through a signaling pathway mediated by PRKCA (PubMed:16757564, PubMed:21724588). Plays an essential role in testis development (By similarity). Ubiquitinated. Undergoes polyubiquitination upon activation.;Autoproteolytically cleaved into 2 fragments; the large extracellular N-terminal fragment (ADGRG1 NT) and the membrane-bound C-terminal fragment (ADGRG1 CT) predominantly remain associated and non-covalently linked. Shedding to yield the secreted ADGRG1 N-terminal fragment seems to involve metalloprotease(s) (PubMed:22333914).;N-glycosylated. Contains sialic acid residues. Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. NA PE1 16 +NX_Q9Y657 Spindlin-1 262 29601 6.46 0 Nucleoplasm;Nucleus;Nucleolus NA Chromatin reader that specifically recognizes and binds histone H3 both trimethylated at 'Lys-4' and asymmetrically dimethylated at 'Arg-8' (H3K4me3 and H3R8me2a) and acts as an activator of Wnt signaling pathway downstream of PRMT2. In case of cancer, promotes cell cancer proliferation via activation of the Wnt signaling pathway (PubMed:24589551). Overexpression induces metaphase arrest and chromosomal instability. Localizes to active rDNA loci and promotes the expression of rRNA genes (PubMed:21960006). May play a role in cell-cycle regulation during the transition from gamete to embryo. Involved in oocyte meiotic resumption, a process that takes place before ovulation to resume meiosis of oocytes blocked in prophase I: may act by regulating maternal transcripts to control meiotic resumption. Phosphorylated during oocyte meiotic maturation. Belongs to the SPIN/STSY family. NA PE1 9 +NX_Q9Y661 Heparan sulfate glucosamine 3-O-sulfotransferase 4 456 49799 8.82 1 Golgi apparatus membrane NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate (By similarity). NA Belongs to the sulfotransferase 1 family. HS-GAG biosynthesis PE1 16 +NX_Q9Y662 Heparan sulfate glucosamine 3-O-sulfotransferase 3B1 390 43324 9.67 1 Cytoplasmic vesicle;Golgi apparatus membrane NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in IdoUA2S-GlcNS and also in IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate. NA Belongs to the sulfotransferase 1 family. Glycosaminoglycan biosynthesis - heparan sulfate;HS-GAG biosynthesis PE1 17 +NX_Q9Y663 Heparan sulfate glucosamine 3-O-sulfotransferase 3A1 406 44900 9.54 1 Cytoskeleton;Golgi apparatus membrane NA Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in IdoUA2S-GlcNS and also in IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate. NA Belongs to the sulfotransferase 1 family. Glycosaminoglycan biosynthesis - heparan sulfate;HS-GAG biosynthesis PE1 17 +NX_Q9Y664 KICSTOR complex protein kaptin 436 48080 5.12 0 Cell membrane;Lysosome membrane;Nucleoplasm;Lamellipodium;Stereocilium;Cytosol Mental retardation, autosomal recessive 41 As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose. NA NA NA PE1 19 +NX_Q9Y666 Solute carrier family 12 member 7 1083 119106 6.28 12 Cytosol;Cell membrane NA Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May mediate K(+) uptake into Deiters' cells in the cochlea and contribute to K(+) recycling in the inner ear. Important for the survival of cochlear outer and inner hair cells and the maintenance of the organ of Corti. May be required for basolateral Cl(-) extrusion in the kidney and contribute to renal acidification (By similarity). NA Belongs to the SLC12A transporter family. Collecting duct acid secretion;Cation-coupled Chloride cotransporters PE1 5 +NX_Q9Y672 Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase 507 58121 8.8 11 Endoplasmic reticulum;Endoplasmic reticulum membrane Congenital disorder of glycosylation 1C Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol. NA Belongs to the ALG6/ALG8 glucosyltransferase family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein;Defective ALG6 causes ALG6-CDG (CDG-1c) PE1 1 +NX_Q9Y673 Dolichyl-phosphate beta-glucosyltransferase 324 36946 9.34 1 Cytosol;Endoplasmic reticulum membrane NA NA NA Belongs to the glycosyltransferase 2 family. Protein modification; protein glycosylation.;N-Glycan biosynthesis;Metabolic pathways;Synthesis of dolichyl-phosphate-glucose PE1 13 +NX_Q9Y675 SNRPN upstream reading frame protein 71 8412 10.58 0 Nucleus NA NA NA Belongs to the SNURF family. NA PE1 15 +NX_Q9Y676 28S ribosomal protein S18b, mitochondrial 258 29396 9.47 0 Cytoplasm;Cell junction;Mitochondrion NA NA NA Belongs to the bacterial ribosomal protein bS18 family. Mitochondrion-specific ribosomal protein mS40 subfamily. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 6 +NX_Q9Y678 Coatomer subunit gamma-1 874 97718 5.32 0 Golgi apparatus;Cytoplasm;COPI-coated vesicle membrane;Nucleoplasm;Golgi apparatus membrane;Cytosol NA The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors. Required for limiting lipid storage in lipid droplets. Involved in lipid homeostasis by regulating the presence of perilipin family members PLIN2 and PLIN3 at the lipid droplet surface and promoting the association of adipocyte triglyceride lipase (PNPLA2) with the lipid droplet surface to mediate lipolysis (By similarity). NA Belongs to the COPG family. COPI-mediated anterograde transport;COPI-dependent Golgi-to-ER retrograde traffic PE1 3 +NX_Q9Y679 Ancient ubiquitous protein 1 410 45787 8.96 1 Nucleoplasm;Endoplasmic reticulum membrane;Cytoplasmic vesicle NA May play a role in the translocation of terminally misfolded proteins from the endoplasmic reticulum lumen to the cytoplasm and their degradation by the proteasome. NA Belongs to the AUP1 family. NA PE1 2 +NX_Q9Y680 Peptidyl-prolyl cis-trans isomerase FKBP7 222 25794 5.92 0 Endoplasmic reticulum;Endoplasmic reticulum lumen NA PPIases accelerate the folding of proteins during protein synthesis. Glycosylated. NA NA PE1 2 +NX_Q9Y689 ADP-ribosylation factor-like protein 5A 179 20728 6.3 0 NA NA Lacks ADP-ribosylation enhancing activity. NA Belongs to the small GTPase superfamily. Arf family. NA PE1 2 +NX_Q9Y691 Calcium-activated potassium channel subunit beta-2 235 27130 8.71 2 Membrane NA Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Acts as a negative regulator that confers rapid and complete inactivation of KCNMA1 channel complex. May participate in KCNMA1 inactivation in chromaffin cells of the adrenal gland or in hippocampal CA1 neurons. N-glycosylated. Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB2 subfamily. Vascular smooth muscle contraction;Ca2+ activated K+ channels;cGMP effects PE1 3 +NX_Q9Y692 Glucocorticoid modulatory element-binding protein 1 573 62591 4.76 0 Cytoplasm;Nucleoplasm;Nucleus NA Trans-acting factor that binds to glucocorticoid modulatory elements (GME) present in the TAT (tyrosine aminotransferase) promoter and increases sensitivity to low concentrations of glucocorticoids. Binds also to the transferrin receptor promoter. Essential auxiliary factor for the replication of parvoviruses. NA NA NA PE1 1 +NX_Q9Y693 LHFPL tetraspan subfamily member 6 protein 200 21598 7.87 3 Membrane;Nucleolus NA NA NA Belongs to the LHFP family. NA PE1 13 +NX_Q9Y694 Solute carrier family 22 member 7 548 60026 6.57 12 Basolateral cell membrane NA Mediates sodium-independent multispecific organic anion transport. Transport of prostaglandin E2, prostaglandin F2, tetracycline, bumetanide, estrone sulfate, glutarate, dehydroepiandrosterone sulfate, allopurinol, 5-fluorouracil, paclitaxel, L-ascorbic acid, salicylate, ethotrexate, and alpha-ketoglutarate. NA Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. Bile secretion;Organic anion transport PE1 6 +NX_Q9Y696 Chloride intracellular channel protein 4 253 28772 5.45 1 Cytoplasm;Mitochondrion;Cell membrane;Nucleus matrix;Cell junction;Cytoplasmic vesicle membrane;Centrosome;Cytosol;Nucleus NA Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Promotes cell-surface expression of HRH3. Has alternate cellular functions like a potential role in angiogenesis or in maintaining apical-basolateral membrane polarity during mitosis and cytokinesis. Could also promote endothelial cell proliferation and regulate endothelial morphogenesis (tubulogenesis). NA Belongs to the chloride channel CLIC family. NA PE1 1 +NX_Q9Y697 Cysteine desulfurase, mitochondrial 457 50196 8.54 0 Cytoplasm;Mitochondrion;Nucleoplasm;Cytosol;Nucleus NA Catalyzes the removal of elemental sulfur from cysteine to produce alanine. It supplies the inorganic sulfur for iron-sulfur (Fe-S) clusters. May be involved in the biosynthesis of molybdenum cofactor. NA Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. NifS/IscS subfamily. Thiamine metabolism;Sulfur relay system;Mitochondrial iron-sulfur cluster biogenesis;Molybdenum cofactor biosynthesis PE1 20 +NX_Q9Y698 Voltage-dependent calcium channel gamma-2 subunit 323 35966 9.13 4 Membrane;Synaptosome Mental retardation, autosomal dominant 10 Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state. Phosphorylation of Thr-321 impairs interaction with DLG1 and DLG4. Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. MAPK signaling pathway;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Presynaptic depolarization and calcium channel opening;Trafficking of AMPA receptors;LGI-ADAM interactions;Phase 2 - plateau phase;Phase 0 - rapid depolarisation PE1 22 +NX_Q9Y6A1 Protein O-mannosyl-transferase 1 747 84881 8.69 12 Golgi apparatus;Endoplasmic reticulum membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1;Muscular dystrophy-dystroglycanopathy limb-girdle C1 Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient (PubMed:12369018, PubMed:14699049, PubMed:28512129). Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins (PubMed:28512129). NA Belongs to the glycosyltransferase 39 family. Protein modification; protein glycosylation.;Other types of O-glycan biosynthesis;Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2;O-linked glycosylation;Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 PE1 9 +NX_Q9Y6A2 Cholesterol 24-hydroxylase 500 56821 9.15 1 Microsome membrane;Endoplasmic reticulum membrane;Postsynapse;Presynapse;Dendrite NA P450 monooxygenase that plays a major role in cholesterol homeostasis in the brain. Primarily catalyzes the hydroxylation (with S stereochemistry) at C-24 of cholesterol side chain, triggering cholesterol diffusion out of neurons and its further degradation (PubMed:10377398, PubMed:14640697, PubMed:25017465, PubMed:18621681). By promoting constant cholesterol elimination in neurons, may activate the mevalonate pathway and coordinate the synthesis of new cholesterol and nonsterol isoprenoids involved in synaptic activity and learning (By similarity). Further hydroxylates cholesterol derivatives and hormone steroids on both the ring and side chain of these molecules, converting them into active oxysterols involved in lipid signaling and biosynthesis (PubMed:12077124, PubMed:14640697, PubMed:28190002). Acts as an epoxidase converting cholesta-5,24-dien-3beta-ol/desmosterol into (24S),25-epoxycholesterol, an abundant lipid ligand of nuclear NR1H2 and NR1H3 receptors shown to promote neurogenesis in developing brain (PubMed:25017465). May also catalyze the oxidative metabolism of xenobiotics, such as clotrimazole (PubMed:20667828). NA Belongs to the cytochrome P450 family. Steroid metabolism; cholesterol degradation.;Lipid metabolism; C21-steroid hormone metabolism.;Primary bile acid biosynthesis;Synthesis of bile acids and bile salts via 24-hydroxycholesterol;Endogenous sterols PE1 14 +NX_Q9Y6A4 Cilia- and flagella-associated protein 20 193 22774 9.78 0 Centriole;Cilium;Cilium basal body;Nucleoplasm;Nucleus NA Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. Involved in the regulation of the size and morphology of cilia (PubMed:24414207). Required for axonemal microtubules polyglutamylation (PubMed:24414207). NA Belongs to the CFAP20 family. NA PE1 16 +NX_Q9Y6A5 Transforming acidic coiled-coil-containing protein 3 838 90360 4.97 0 Cytoplasm;Centriolar satellite;Spindle pole;Centrosome;Cytoplasmic vesicle;Cytosol;Spindle NA Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:21297582, PubMed:23532825). May be involved in the control of cell growth and differentiation. May contribute to cancer (PubMed:14767476). NA Belongs to the TACC family. RNA transport;NOTCH3 Activation and Transmission of Signal to the Nucleus;Negative regulation of NOTCH4 signaling PE1 4 +NX_Q9Y6A9 Signal peptidase complex subunit 1 169 18298 8.95 2 Microsome membrane;Golgi apparatus;Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum;Cytoplasmic vesicle NA Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.;(Microbial infection) Required for the post-translational processing of proteins involved in virion assembly and secretion from flaviviruses such as West Nile virus (WNV), Japanese encephalitis virus (JEV), Dengue virus type 2 (DENV-2), Yellow Fever virus (YFV), Zika virus (ZIKV) and hepatitis C virus (HCV) (PubMed:24009510, PubMed:27383988, PubMed:29593046). Plays a key role in the post-translational processing of flaviviral structural proteins prM, E, and NS1 (PubMed:27383988, PubMed:29593046). In HCV, it is involved in virion assembly where it promotes the interaction between HCV virus proteins NS2 and E2 (PubMed:24009510). NA Belongs to the SPCS1 family. Protein export;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP);SRP-dependent cotranslational protein targeting to membrane;Synthesis, secretion, and deacylation of Ghrelin PE1 3 +NX_Q9Y6B2 EP300-interacting inhibitor of differentiation 1 187 20876 3.89 0 Nucleoplasm;Cytoplasm;Nucleus NA Interacts with RB1 and EP300 and acts as a repressor of MYOD1 transactivation. Inhibits EP300 and CBP histone acetyltransferase activity. May be involved in coupling cell cycle exit to the transcriptional activation of genes required for cellular differentiation. May act as a candidate coinhibitory factor for NR0B2 that can be directly linked to transcription inhibitory mechanisms. Ubiquitinated in U2OS osteosarcoma cells and is rapidly degraded by proteasome as cells exit the cell cycle exit. NA NA PE1 15 +NX_Q9Y6B6 GTP-binding protein SAR1b 198 22410 5.76 0 Golgi stack membrane;Endoplasmic reticulum membrane Chylomicron retention disease Involved in transport from the endoplasmic reticulum to the Golgi apparatus. Activated by the guanine nucleotide exchange factor PREB. Involved in the selection of the protein cargo and the assembly of the COPII coat complex. NA Belongs to the small GTPase superfamily. SAR1 family. Protein processing in endoplasmic reticulum;Legionellosis;MHC class II antigen presentation;Antigen Presentation: Folding, assembly and peptide loading of class I MHC;Regulation of cholesterol biosynthesis by SREBP (SREBF);COPII-mediated vesicle transport;Cargo concentration in the ER;Chylomicron assembly PE1 5 +NX_Q9Y6B7 AP-4 complex subunit beta-1 739 83260 5.59 0 Cytoplasmic vesicle;trans-Golgi network membrane Spastic paraplegia 47, autosomal recessive Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable). NA Belongs to the adaptor complexes large subunit family. Lysosome;Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis PE1 1 +NX_Q9Y6C2 EMILIN-1 1016 106695 5.1 0 Extracellular matrix NA May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity. NA NA Molecules associated with elastic fibres PE1 2 +NX_Q9Y6C5 Protein patched homolog 2 1203 130544 6 12 Membrane Medulloblastoma;Basal cell carcinoma;Basal cell nevus syndrome Plays a role in the control of cellular growth (PubMed:18285427). May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH). NA Belongs to the patched family. Hedgehog signaling pathway;Pathways in cancer;Basal cell carcinoma;Class B/2 (Secretin family receptors) PE1 1 +NX_Q9Y6C7 Putative uncharacterized protein encoded by LINC00312 94 11024 10.19 0 NA NA NA NA NA NA PE5 3 +NX_Q9Y6C9 Mitochondrial carrier homolog 2 303 33331 8.25 3 Mitochondrion inner membrane;Mitochondrion NA The substrate transported is not yet known. Induces mitochondrial depolarization. NA Belongs to the mitochondrial carrier (TC 2.A.29) family. NA PE1 11 +NX_Q9Y6D0 Selenoprotein K 94 10645 10.86 1 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Cell membrane NA Required for Ca(2+) flux in immune cells and plays a role in T-cell proliferation and in T-cell and neutrophil migration (By similarity). Involved in endoplasmic reticulum-associated degradation (ERAD) of soluble glycosylated proteins (PubMed:22016385). Required for palmitoylation and cell surface expression of CD36 and involved in macrophage uptake of low-density lipoprotein and in foam cell formation (By similarity). Together with ZDHHC6, required for palmitoylation of ITPR1 in immune cells, leading to regulate ITPR1 stability and function (PubMed:25368151). Plays a role in protection of cells from ER stress-induced apoptosis (PubMed:20692228). Protects cells from oxidative stress when overexpressed in cardiomyocytes (PubMed:16962588). Cleaved by CAPN2/m-calpain in resting macrophages but not in activated macrophages. Macrophage activation up-regulates expression of the calpain inhibitor CAST/calpastatin, resulting in inhibition of CAPN2 activity (By similarity). Belongs to the selenoprotein K family. NA PE1 3 +NX_Q9Y6D5 Brefeldin A-inhibited guanine nucleotide-exchange protein 2 1785 202038 5.93 0 trans-Golgi network;Cytoplasm;Golgi apparatus;Membrane;Dendrite;Endosome;Centrosome;Synapse;Cytoplasmic vesicle;Perinuclear region;Cytoskeleton Periventricular nodular heterotopia 2 Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extent on ARF5 and ARF6. Promotes the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved in the regulation of Golgi vesicular transport. Required for the integrity of the endosomal compartment. Involved in trafficking from the trans-Golgi network (TGN) to endosomes and is required for membrane association of the AP-1 complex and GGA1. Seems to be involved in recycling of the transferrin receptor from recycling endosomes to the plasma membrane. Probably is involved in the exit of GABA(A) receptors from the endoplasmic reticulum. Involved in constitutive release of tumor necrosis factor receptor 1 via exosome-like vesicles; the function seems to involve PKA and specifically PRKAR2B. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways. In vitro phosphorylated by PKA reducing its GEF activity and dephosphorylated by phosphatase PP1. NA Association of TriC/CCT with target proteins during biosynthesis PE1 20 +NX_Q9Y6D6 Brefeldin A-inhibited guanine nucleotide-exchange protein 1 1849 208767 5.58 0 Golgi apparatus;Cytoplasm;Nucleus matrix;trans-Golgi network membrane;Nucleolus;Nucleoplasm;Cytosol;Perinuclear region;Nucleus NA Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through replacement of GDP with GTP. Involved in vesicular trafficking. Required for the maintenance of Golgi structure; the function may be independent of its GEF activity. Required for the maturaion of integrin beta-1 in the Golgi. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways. Inhibits GAP activity of MYO9B probably through competetive RhoA binding. The function in the nucleus remains to be determined. Phosphorylated. In vitro phosphorylated by PKA reducing its GEF activity and dephosphorylated by phosphatase PP1. NA NA PE1 8 +NX_Q9Y6D9 Mitotic spindle assembly checkpoint protein MAD1 718 83067 5.72 0 Nucleus membrane;Nucleoplasm;Spindle pole;Nucleus envelope;Centrosome;Nucleus;Spindle;Kinetochore NA Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. May recruit MAD2L1 to unattached kinetochores. Has a role in the correct positioning of the septum. Required for anchoring MAD2L1 to the nuclear periphery. Binds to the TERT promoter and represses telomerase expression, possibly by interfering with MYC binding. Phosphorylated; by BUB1. Become hyperphosphorylated in late S through M phases or after mitotic spindle damage. Belongs to the MAD1 family. Cell cycle;Progesterone-mediated oocyte maturation;Separation of Sister Chromatids;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal PE1 7 +NX_Q9Y6E0 Serine/threonine-protein kinase 24 443 49308 5.49 0 Cytoplasm;Nucleolus;Membrane;Cytosol;Nucleus NA Serine/threonine-protein kinase that acts on both serine and threonine residues and promotes apoptosis in response to stress stimuli and caspase activation. Mediates oxidative-stress-induced cell death by modulating phosphorylation of JNK1-JNK2 (MAPK8 and MAPK9), p38 (MAPK11, MAPK12, MAPK13 and MAPK14) during oxidative stress. Plays a role in a staurosporine-induced caspase-independent apoptotic pathway by regulating the nuclear translocation of AIFM1 and ENDOG and the DNase activity associated with ENDOG. Phosphorylates STK38L on 'Thr-442' and stimulates its kinase activity. In association with STK26 negatively regulates Golgi reorientation in polarized cell migration upon RHO activation (PubMed:27807006). Regulates also cellular migration with alteration of PTPN12 activity and PXN phosphorylation: phosphorylates PTPN12 and inhibits its activity and may regulate PXN phosphorylation through PTPN12. May act as a key regulator of axon regeneration in the optic nerve and radial nerve. Proteolytically processed by caspases during apoptosis. Proteolytic cleavage results in kinase activation, nuclear translocation of the truncated form (MST3/N) and the induction of apoptosis.;Is activated by phosphorylation by PKA. Oxidative stress induces phosphorylation. Activated by autophosphorylation at Thr-190 and phosphorylation at this site is essential for its function. Manganese, magnesium and cobalt-dependent autophosphorylation is mainly on threonine residues while zinc-dependent autophosphorylation is on both serine and threonine residues. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. Apoptotic cleavage of cellular proteins;Apoptotic execution phase PE1 13 +NX_Q9Y6E2 Basic leucine zipper and W2 domain-containing protein 2 419 48162 6.26 0 Cytosol;Cell membrane;Cytoskeleton NA May be involved in neuronal differentiation. NA Belongs to the BZW family. NA PE1 7 +NX_Q9Y6E7 NAD-dependent protein lipoamidase sirtuin-4, mitochondrial 314 35188 9.04 0 Mitochondrion matrix NA Acts as NAD-dependent protein lipoamidase, ADP-ribosyl transferase and deacetylase. Catalyzes more efficiently removal of lipoyl- and biotinyl- than acetyl-lysine modifications. Inhibits the pyruvate dehydrogenase complex (PDH) activity via the enzymatic hydrolysis of the lipoamide cofactor from the E2 component, DLAT, in a phosphorylation-independent manner (PubMed:25525879). Catalyzes the transfer of ADP-ribosyl groups onto target proteins, including mitochondrial GLUD1, inhibiting GLUD1 enzyme activity. Acts as a negative regulator of mitochondrial glutamine metabolism by mediating mono ADP-ribosylation of GLUD1: expressed in response to DNA damage and negatively regulates anaplerosis by inhibiting GLUD1, leading to block metabolism of glutamine into tricarboxylic acid cycle and promoting cell cycle arrest (PubMed:16959573, PubMed:17715127). In response to mTORC1 signal, SIRT4 expression is repressed, promoting anaplerosis and cell proliferation. Acts as a tumor suppressor (PubMed:23562301, PubMed:23663782). Also acts as a NAD-dependent protein deacetylase: mediates deacetylation of 'Lys-471' of MLYCD, inhibiting its activity, thereby acting as a regulator of lipid homeostasis (By similarity). Does not seem to deacetylate PC (PubMed:23438705). Controls fatty acid oxidation by inhibiting PPARA transcriptional activation. Impairs SIRT1:PPARA interaction probably through the regulation of NAD(+) levels (PubMed:24043310). Down-regulates insulin secretion. NA Belongs to the sirtuin family. Class II subfamily. Transcriptional activation of mitochondrial biogenesis PE1 12 +NX_Q9Y6F1 Protein mono-ADP-ribosyltransferase PARP3 533 60089 6.34 0 Centriole;Chromosome;Nucleoplasm;Centrosome;Nucleus NA Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins and plays a key role in the response to DNA damage (PubMed:16924674, PubMed:20064938, PubMed:21211721, PubMed:21270334, PubMed:25043379, PubMed:24598253). Mediates mono-ADP-ribosylation of glutamate, aspartate or lysine residues on target proteins (PubMed:20064938, PubMed:25043379). In contrast to PARP1 and PARP2, it is not able to mediate poly-ADP-ribosylation (PubMed:25043379). Associates with a number of DNA repair factors and is involved in the response to exogenous and endogenous DNA strand breaks (PubMed:16924674, PubMed:21211721, PubMed:21270334). Together with APLF, promotes the retention of the LIG4-XRCC4 complex on chromatin and accelerate DNA ligation during non-homologous end-joining (NHEJ) (PubMed:21211721). Cooperates with the XRRC6-XRCC5 (Ku70-Ku80) heterodimer to limit end-resection thereby promoting accurate NHEJ (PubMed:24598253). Involved in DNA repair by mediating mono-ADP-ribosylation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism, such as XRRC5 and XRCC6 (PubMed:16924674, PubMed:24598253). ADP-ribosylation follows DNA damage and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks (PubMed:16924674, PubMed:21211721, PubMed:21270334). May link the DNA damage surveillance network to the mitotic fidelity checkpoint (PubMed:16924674). In addition to proteins, also able to ADP-ribosylate DNA: mediates DNA mono-ADP-ribosylation of DNA strand break termini via covalent addition of a single ADP-ribose moiety to a 5'- or 3'-terminal phosphate residues in DNA containing multiple strand breaks (PubMed:29361132, PubMed:29520010). Acts as a negative regulator of immunoglobulin class switch recombination, probably by controlling the level of AICDA /AID on the chromatin (By similarity). Auto-mono-ADP-ribosylated. NA Base excision repair PE1 3 +NX_Q9Y6F6 Protein MRVI1 904 97957 5.48 1 Sarcoplasmic reticulum;Membrane;Cytosol;Perinuclear region;Nucleus NA Plays a role as NO/PRKG1-dependent regulator of IP3-induced calcium release; its phosphorylation by PRKG1 inhibits bradykinin and IP3-induced calcium release from intracellular stores. Recruits PRKG1 to the endoplasmic reticulum and may mediate the assembly of PRKG1 and ITPR1 in a macrocomplex. Involved in PRKG1 signaling cascade leading to inhibition of platelet activation and aggregation. Mediates also NO-dependent inhibition of calcium signaling in gastrointestinal smooth muscle contributing to NO-dependent relaxation. Phosphorylated by PRKG1/cGKI-beta; Ser-386 showed constitutive phosphorylation in platelets whereas Ser-676 is only phosphorylated in presence of cGMP and nitric oxide (NO); Ser-689 is phosphorylated in resting platelets but increases in presence of cGMP and NO. PRKG1 inhibitor prevents phosphorylation of Ser-676 and Ser-689 in response to NO and cGMP. NA Vascular smooth muscle contraction;cGMP effects PE1 11 +NX_Q9Y6F7 Testis-specific chromodomain protein Y 2 541 60524 9.14 0 Nucleus NA May have histone acetyltransferase activity. NA NA NA PE1 Y +NX_Q9Y6F8 Testis-specific chromodomain protein Y 1 540 60473 9.21 0 Nucleus NA Has histone acetyltransferase activity, with a preference for histone H4. NA NA NA PE1 Y +NX_Q9Y6F9 Protein Wnt-6 365 39721 9.22 0 Extracellular matrix NA Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters. Together with CAV1 may promote chemoresistance of gastric cancer cells to DNA-damaging anthracycline drugs through the activation of the canonical Wnt receptor signaling pathway. Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Belongs to the Wnt family. Wnt signaling pathway;Hedgehog signaling pathway;Melanogenesis;HTLV-I infection;Pathways in cancer;Basal cell carcinoma;WNT ligand biogenesis and trafficking;Class B/2 (Secretin family receptors) PE1 2 +NX_Q9Y6G1 Transmembrane protein 14A 99 10712 10.55 3 Mitochondrion membrane;Endoplasmic reticulum;Nucleoplasm;Endoplasmic reticulum membrane NA Inhibits apoptosis via negative regulation of the mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway. NA Belongs to the TMEM14 family. NA PE1 6 +NX_Q9Y6G3 39S ribosomal protein L42, mitochondrial 142 16661 8.58 0 Mitochondrion;Cell membrane NA NA NA Belongs to the mitochondrion-specific ribosomal protein mL42 family. Mitochondrial translation initiation;Mitochondrial translation elongation;Mitochondrial translation termination PE1 12 +NX_Q9Y6G5 COMM domain-containing protein 10 202 22966 6.09 0 Nucleoplasm;Cytoplasm;Nucleus NA May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966). NA NA Neddylation PE1 5 +NX_Q9Y6G9 Cytoplasmic dynein 1 light intermediate chain 1 523 56579 6.01 0 Cytoplasm;Spindle pole;Centrosome;Cytosol;Kinetochore NA Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes. Probably involved in the microtubule-dependent transport of pericentrin. Is required for progress through the spindle assembly checkpoint. The phosphorylated form appears to be involved in the selective removal of MAD1L1 and MAD1L2 but not BUB1B from kinetochores. Phosphorylated during mitosis but not in interphase. Belongs to the dynein light intermediate chain family. Phagosome;Vasopressin-regulated water reabsorption;Salmonella infection;Separation of Sister Chromatids;MHC class II antigen presentation;Resolution of Sister Chromatid Cohesion;RHO GTPases Activate Formins;Mitotic Prometaphase;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;COPI-independent Golgi-to-ER retrograde traffic;COPI-mediated anterograde transport;Neutrophil degranulation;HSP90 chaperone cycle for steroid hormone receptors (SHR) PE1 3 +NX_Q9Y6H1 Coiled-coil-helix-coiled-coil-helix domain-containing protein 2 151 15513 9.43 0 Mitochondrion intermembrane space;Mitochondrion;Nucleus Parkinson disease 22 Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen) (PubMed:23303788). NA NA Mitochondrial protein import PE1 7 +NX_Q9Y6H3 Mitochondrial inner membrane protease ATP23 homolog 246 28081 8.3 0 Cytoplasmic vesicle;Cytosol;Cell junction;Cell membrane NA NA NA Belongs to the peptidase M76 family. NA PE1 12 +NX_Q9Y6H5 Synphilin-1 919 100409 5.96 0 Nucleoplasm;Cytosol;Cytoplasm Parkinson disease Modulates SNCA monoubiquitination by SIAH1.;Inhibits autoubiquitination and proteasomal degradation of SIAH1, and thereby increases cellular levels of SIAH.;Inhibits the ubiquitin ligase activity of SIAH1 and inhibits proteasomal degradation of target proteins. Is subject to limited ubiquitination that does not lead to proteasomal degradation.;Ubiquitinated; mediated by SIAH1, SIAH2 or RNF19A and leading to its subsequent proteasomal degradation. In the absence of proteasomal degradation, ubiquitinated SNCAIP accumulates in cytoplasmic inclusion bodies. NA Parkinson's disease;Amyloid fiber formation PE1 5 +NX_Q9Y6H6 Potassium voltage-gated channel subfamily E member 3 103 11710 8.82 1 Cytoplasm;Cell membrane;Perikaryon;Membrane raft;Dendrite NA Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed:12954870). Associated with KCNC4/Kv3.4 is proposed to form the subthreshold voltage-gated potassium channel in skeletal muscle and to establish the resting membrane potential (RMP) in muscle cells. Associated with KCNQ1/KCLQT1 may form the intestinal cAMP-stimulated potassium channel involved in chloride secretion that produces a current with nearly instantaneous activation with a linear current-voltage relationship. NA Belongs to the potassium channel KCNE family. Protein digestion and absorption;Phase 3 - rapid repolarisation;Phase 2 - plateau phase PE1 11 +NX_Q9Y6H8 Gap junction alpha-3 protein 435 47410 6.15 4 Gap junction;Cell membrane Cataract 14, multiple types Structural component of lens fiber gap junctions (PubMed:30044662). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells (By similarity). They are formed by the docking of two hexameric hemichannels, one from each cell membrane. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:30044662). NA Belongs to the connexin family. Alpha-type (group II) subfamily. Gap junction assembly PE1 13 +NX_Q9Y6I0 Endogenous retrovirus group K member 6 Pro protein 156 16972 5.86 0 NA NA Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. Autoproteolytically processed at the N-terminus. Expected C-terminal autoprocessing not detected. The sequence shown is that of the processed Pro protein (By similarity). Belongs to the peptidase A2 family. HERV class-II K(HML-2) subfamily. NA PE3 7 +NX_Q9Y6I3 Epsin-1 576 60293 4.72 0 Cytoplasm;Cell membrane;Clathrin-coated pit;Cytosol;Nucleus NA Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Modifies membrane curvature and facilitates the formation of clathrin-coated invaginations (By similarity). Regulates receptor-mediated endocytosis. Ubiquitinated.;Phosphorylated on serine and/or threonine residues in mitotic cells. Phosphorylation reduces interaction with REPS2, AP-2 and the membrane fraction. Depolarization of synaptosomes results in dephosphorylation.;EPN1 is phosphorylated by MAPK3 Belongs to the epsin family. Endocytosis;EGFR downregulation;Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 19 +NX_Q9Y6I4 Ubiquitin carboxyl-terminal hydrolase 3 520 58897 8.54 0 Nucleoplasm;Nucleus NA Hydrolase that deubiquitinates monoubiquitinated target proteins such as histone H2A and H2B. Required for proper progression through S phase and subsequent mitotic entry. May regulate the DNA damage response (DDR) checkpoint through deubiquitination of H2A at DNA damage sites. Associates with the chromatin. NA Belongs to the peptidase C19 family. USP3 subfamily. Ub-specific processing proteases PE1 15 +NX_Q9Y6I7 WD repeat and SOCS box-containing protein 1 421 47432 7.63 0 Cytoplasm;Mitochondrion;Nucleus NA Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes type II iodothyronine deiodinase/DIO2. Confers constitutive instability to HIPK2 through proteasomal degradation. NA NA Protein modification; protein ubiquitination.;Antigen processing: Ubiquitination & Proteasome degradation;Neddylation PE1 17 +NX_Q9Y6I8 Peroxisomal membrane protein 4 212 24264 10.07 2 Peroxisome;Peroxisome membrane;Nucleolus NA NA NA Belongs to the peroxisomal membrane protein PXMP2/4 family. Peroxisome;Class I peroxisomal membrane protein import PE1 20 +NX_Q9Y6I9 Testis-expressed protein 264 313 34189 4.79 1 Cytosol;Autophagosome;Endoplasmic reticulum membrane;Nucleolus NA Major reticulophagy (also called ER-phagy) receptor that acts independently of other candidate reticulophagy receptors to remodel subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover (PubMed:31006538, PubMed:31006537). The ATG8-containing isolation membrane (IM) cradles a tubular segment of TEX264-positive ER near a three-way junction, allowing the formation of a synapse of 2 juxtaposed membranes with trans interaction between the TEX264 and ATG8 proteins (PubMed:31006537). Expansion of the IM would extend the capture of ER, possibly through a 'zipper-like' process involving continued trans TEX264-ATG8 interactions, until poorly understood mechanisms lead to the fission of relevant membranes and, ultimately, autophagosomal membrane closure (PubMed:31006537). NA NA Platelet degranulation PE1 3 +NX_Q9Y6J0 Calcineurin-binding protein cabin-1 2220 246352 5.7 0 Nucleoplasm;Cytosol;Nucleus NA May be required for replication-independent chromatin assembly. May serve as a negative regulator of T-cell receptor (TCR) signaling via inhibition of calcineurin. Inhibition of activated calcineurin is dependent on both PKC and calcium signals. Acts as a negative regulator of p53/TP53 by keeping p53 in an inactive state on chromatin at promoters of a subset of it's target genes. Upon genotoxic stress, ubiquitination by the DCX(DDB2) E3 ubiquitin-protein ligase complex targets CABIN1 for proteasomal degradation, leading to the release of p53/TP53.;Activated through PKC-mediated hyperphosphorylation. Phosphorylation by the DNA damage kinases ATM and CHK2 enhances ubiquitination. NA Formation of Senescence-Associated Heterochromatin Foci (SAHF) PE1 22 +NX_Q9Y6J3 SMAD5 antisense gene protein 1 95 10312 9.43 0 NA NA NA NA NA NA PE2 5 +NX_Q9Y6J6 Potassium voltage-gated channel subfamily E member 2 123 14472 5.57 1 Cell membrane Atrial fibrillation, familial, 4;Long QT syndrome 6 Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. Associated with KCNH2/HERG is proposed to form the rapidly activating component of the delayed rectifying potassium current in heart (IKr). May associate with KCNQ2 and/or KCNQ3 and modulate the native M-type current. May associate with HCN1 and HCN2 and increase potassium current. Interacts with KCNQ1; forms a heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505). NA Belongs to the potassium channel KCNE family. Gastric acid secretion;Phase 3 - rapid repolarisation;Phase 2 - plateau phase PE1 21 +NX_Q9Y6J8 Serine/threonine/tyrosine-interacting-like protein 1 313 35818 5.73 0 Mitochondrion matrix;Nucleus speckle NA Catalytically inactive phosphatase (PubMed:20180778, PubMed:23163895). By binding to G3BP1, inhibits the formation of G3BP1-induced stress granules (PubMed:20180778, PubMed:23163895). Does not act by protecting the dephosphorylation of G3BP1 at 'Ser-149' (PubMed:23163895). Inhibits PTPMT1 phosphatase activity (PubMed:24709986). By inhibiting PTPMT1, positively regulates intrinsic apoptosis (PubMed:21262771). May play a role in the formation of neurites during neuronal development (PubMed:29250526). NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily. NA PE1 7 +NX_Q9Y6J9 TAF6-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 6L 622 67814 9.14 0 Nucleoplasm;Nucleus NA Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex (Probable). With TAF5L, acts as an epigenetic regulator essential for somatic reprogramming. Regulates target genes through H3K9ac deposition and MYC recruitment which trigger MYC regulatory network to orchestrate gene expression programs to control embryonic stem cell state. Functions with MYC to activate target gene expression through RNA polymerase II pause release (By similarity). NA Belongs to the TAF6 family. Basal transcription factors;Herpes simplex infection;HATs acetylate histones PE1 11 +NX_Q9Y6K0 Choline/ethanolaminephosphotransferase 1 416 46554 8.55 8 Endoplasmic reticulum membrane;Nucleus membrane NA Catalyzes both phosphatidylcholine and phosphatidylethanolamine biosynthesis from CDP-choline and CDP-ethanolamine, respectively. Involved in protein-dependent process of phospholipid transport to distribute phosphatidyl choline to the lumenal surface. Has a higher cholinephosphotransferase activity than ethanolaminephosphotransferase activity. NA Belongs to the CDP-alcohol phosphatidyltransferase class-I family. Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from phosphocholine: step 2/2.;Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 3/3.;Glycerophospholipid metabolism;Ether lipid metabolism;Metabolic pathways;Synthesis of PC;Synthesis of PE PE1 1 +NX_Q9Y6K1 DNA (cytosine-5)-methyltransferase 3A 912 101858 6.19 0 Cytoplasm;Nucleoplasm;Nucleus Tatton-Brown-Rahman syndrome Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. It modifies DNA in a non-processive manner and also methylates non-CpG sites. May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1. Plays a role in paternal and maternal imprinting. Required for methylation of most imprinted loci in germ cells. Acts as a transcriptional corepressor for ZBTB18. Recruited to trimethylated 'Lys-36' of histone H3 (H3K36me3) sites. Can actively repress transcription through the recruitment of HDAC activity. Sumoylated; sumoylation disrupts the ability to interact with histone deacetylases (HDAC1 and HDAC2) and repress transcription. Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family. Cysteine and methionine metabolism;Metabolic pathways;RMTs methylate histone arginines;PRC2 methylates histones and DNA;DNA methylation;SUMOylation of DNA methylation proteins PE1 2 +NX_Q9Y6K5 2'-5'-oligoadenylate synthase 3 1087 121170 8.73 0 Cytoplasm;Cell membrane;Nucleoplasm;Cytosol;Nucleus NA Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response. In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Synthesizes preferentially dimers of 2'-5'-oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication. Can mediate the antiviral effect via the classical RNase L-dependent pathway or an alternative antiviral pathway independent of RNase L. Displays antiviral activity against Chikungunya virus (CHIKV), Dengue virus, Sindbis virus (SINV) and Semliki forest virus (SFV). NA Belongs to the 2-5A synthase family. Hepatitis C;Measles;Influenza A;Herpes simplex infection;Interferon gamma signaling;Interferon alpha/beta signaling;OAS antiviral response PE1 12 +NX_Q9Y6K8 Adenylate kinase isoenzyme 5 562 63333 4.96 0 Cytoplasm;Cytosol;Centriolar satellite NA Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Active on AMP and dAMP with ATP as a donor. When GTP is used as phosphate donor, the enzyme phosphorylates AMP, CMP, and to a small extent dCMP. Also displays broad nucleoside diphosphate kinase activity. NA Belongs to the adenylate kinase family. Purine metabolism;Metabolic pathways;Interconversion of nucleotide di- and triphosphates PE1 1 +NX_Q9Y6K9 NF-kappa-B essential modulator 419 48198 5.56 0 Cytoplasm;Cytosol;Nucleus Recurrent isolated invasive pneumococcal disease 2;Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema;Immunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia;Incontinentia pigmenti;Ectodermal dysplasia and immunodeficiency 1;Immunodeficiency 33 Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor. Its binding to scaffolding polyubiquitin seems to play a role in IKK activation by multiple signaling receptor pathways. However, the specific type of polyubiquitin recognized upon cell stimulation (either 'Lys-63'-linked or linear polyubiquitin) and its functional importance is reported conflictingly. Also considered to be a mediator for TAX activation of NF-kappa-B. Could be implicated in NF-kappa-B-mediated protection from cytokine toxicity. Essential for viral activation of IRF3. Involved in TLR3- and IFIH1-mediated antiviral innate response; this function requires 'Lys-27'-linked polyubiquitination. (Microbial infection) Polyubiquitinated on Lys-309 and Lys-321 via 'Lys-27'-linked ubiquitin by Shigella flexneri E3 ubiquitin-protein ligase ipah9.8, leading to its degradation by the proteasome.;Neddylated by TRIM40, resulting in stabilization of NFKBIA and down-regulation of NF-kappa-B activity.;Sumoylated on Lys-277 and Lys-309 with SUMO1; the modification results in phosphorylation of Ser-85 by ATM leading to a replacement of the sumoylation by mono-ubiquitination on these residues.;Phosphorylation at Ser-68 attenuates aminoterminal homodimerization.;(Microbial infection) Cleaved by hepatitis A virus (HAV) protease 3C allowing the virus to disrupt the host innate immune signaling.;Polyubiquitinated on Lys-285 through 'Lys-63'; the ubiquitination is mediated by NOD2 and RIPK2 and probably plays a role in signaling by facilitating interactions with ubiquitin domain-containing proteins and activates the NF-kappa-B pathway. Polyubiquitinated on Lys-399 through 'Lys-63'; the ubiquitination is mediated by BCL10, MALT1 and TRAF6 and probably plays a role in signaling by facilitating interactions with ubiquitin domain-containing proteins and activates the NF-kappa-B pathway. Monoubiquitinated on Lys-277 and Lys-309; promotes nuclear export. Polyubiquitinated through 'Lys-27' by TRIM23; involved in antiviral innate and inflammatory responses. Linear polyubiquitinated on Lys-111, Lys-143, Lys-226, Lys-246, Lys-264, Lys-277, Lys-285, Lys-292, Lys-302, Lys-309 and Lys-326; the head-to-tail polyubiquitination is mediated by the LUBAC complex and plays a key role in NF-kappa-B activation. Deubiquitinated by USP10 in a TANK-dependent and -independent manner, leading to the negative regulation of NF-kappa-B signaling upon DNA damage (PubMed:25861989).;IKBKG is phosphorylated by MAPK3 NA MAPK signaling pathway;Chemokine signaling pathway;Apoptosis;Osteoclast differentiation;Toll-like receptor signaling pathway;NOD-like receptor signaling pathway;RIG-I-like receptor signaling pathway;Cytosolic DNA-sensing pathway;T cell receptor signaling pathway;B cell receptor signaling pathway;Adipocytokine signaling pathway;Epithelial cell signaling in Helicobacter pylori infection;Shigellosis;Chagas disease (American trypanosomiasis);Toxoplasmosis;Hepatitis C;HTLV-I infection;Herpes simplex infection;Pathways in cancer;Pancreatic cancer;Prostate cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Small cell lung cancer;Primary immunodeficiency;Activation of NF-kappaB in B cells;ER-Phagosome pathway;FCERI mediated NF-kB activation;CLEC7A (Dectin-1) signaling;Downstream TCR signaling;NOD1/2 Signaling Pathway;activated TAK1 mediates p38 MAPK activation;RIP-mediated NFkB activation via ZBP1;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated NF-kB activation;IKK complex recruitment mediated by RIP1;NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10;IKBKB deficiency causes SCID;IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR);IkBA variant leads to EDA-ID;IRAK1 recruits IKK complex;IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;Regulation of TNFR1 signaling;TNFR1-induced NFkappaB signaling pathway;MAP3K8 (TPL2)-dependent MAPK1/3 activation;Ub-specific processing proteases;Ovarian tumor domain proteases;TICAM1, RIP1-mediated IKK complex recruitment;Interleukin-1 signaling;SUMOylation of immune response proteins PE1 X +NX_Q9Y6L6 Solute carrier organic anion transporter family member 1B1 691 76449 8.85 12 Basolateral cell membrane Hyperbilirubinemia, Rotor type Mediates the Na(+)-independent uptake of organic anions such as pravastatin, taurocholate, methotrexate, dehydroepiandrosterone sulfate, 17-beta-glucuronosyl estradiol, estrone sulfate, prostaglandin E2, thromboxane B2, leukotriene C3, leukotriene E4, thyroxine and triiodothyronine. Involved in the clearance of bile acids and organic anions from the liver. NA Belongs to the organo anion transporter (TC 2.A.60) family. Bile secretion;Transport of organic anions;Recycling of bile acids and salts;Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR);Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR) PE1 12 +NX_Q9Y6L7 Tolloid-like protein 2 1015 113557 5.6 0 Secreted NA Protease which specifically processes pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis. NA NA Degradation of the extracellular matrix;Collagen biosynthesis and modifying enzymes;Crosslinking of collagen fibrils;Anchoring fibril formation PE1 10 +NX_Q9Y6M0 Testisin 314 34884 7.56 0 Cytosol;Cell membrane NA Could regulate proteolytic events associated with testicular germ cell maturation. NA Belongs to the peptidase S1 family. Post-translational modification: synthesis of GPI-anchored proteins PE1 16 +NX_Q9Y6M1 Insulin-like growth factor 2 mRNA-binding protein 2 599 66121 8.48 0 Cytoplasm;Cytosol;Nucleus NA RNA-binding factor that recruits target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript 'caging' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation (By similarity). Binds to the 5'-UTR of the insulin-like growth factor 2 (IGF2) mRNAs. Binding is isoform-specific. Binds to beta-actin/ACTB and MYC transcripts. NA Belongs to the RRM IMP/VICKZ family. Insulin-like Growth Factor-2 mRNA Binding Proteins (IGF2BPs/IMPs/VICKZs) bind RNA PE1 3 +NX_Q9Y6M4 Casein kinase I isoform gamma-3 447 51389 9.29 0 Cytoplasm NA Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity). Autophosphorylated. Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. Casein kinase I subfamily. Hedgehog signaling pathway PE1 5 +NX_Q9Y6M5 Zinc transporter 1 507 55300 6.02 6 Cytoplasmic vesicle;Cell membrane NA May be involved in zinc transport out of the cell. NA Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. Mineral absorption;Zinc efflux and compartmentalization by the SLC30 family PE1 1 +NX_Q9Y6M7 Sodium bicarbonate cotransporter 3 1214 136044 6.26 11 Cell membrane;Basolateral cell membrane;Focal adhesion;Cytosol;Stereocilium;Apical cell membrane NA Electroneutral sodium- and bicarbonate-dependent cotransporter with a Na(+):HCO3(-) 1:1 stoichiometry. Regulates intracellular pH and may play a role in bicarbonate salvage in secretory epithelia. May also have an associated sodium channel activity. NA Belongs to the anion exchanger (TC 2.A.31) family. Bicarbonate transporters PE1 3 +NX_Q9Y6M9 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 179 21831 8.57 0 Mitochondrion inner membrane;Mitochondrion Mitochondrial complex I deficiency, nuclear type 24 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. NA Belongs to the complex I LYR family. Oxidative phosphorylation;Metabolic pathways;Alzheimer's disease;Parkinson's disease;Huntington's disease;Respiratory electron transport;Complex I biogenesis PE1 8 +NX_Q9Y6N1 Cytochrome c oxidase assembly protein COX11, mitochondrial 276 31430 9.22 1 Mitochondrion inner membrane NA Exerts its effect at some terminal stage of cytochrome c oxidase synthesis, probably by being involved in the insertion of the copper B into subunit I. NA Belongs to the COX11/CtaG family. Oxidative phosphorylation;Metabolic pathways;Respiratory electron transport;TP53 Regulates Metabolic Genes PE1 17 +NX_Q9Y6N3 Calcium-activated chloride channel regulator family member 3 262 29971 8.42 0 Secreted NA NA N-glycosylated. Belongs to the CLCR family. Stimuli-sensing channels PE1 1 +NX_Q9Y6N5 Sulfide:quinone oxidoreductase, mitochondrial 450 49961 9.18 0 Mitochondrion NA Catalyzes the oxidation of hydrogen sulfide with the help of a quinone, such as ubiquinone, giving rise to thiosulfate and ultimately to sulfane (molecular sulfur) atoms. Requires an additional electron acceptor; can use sulfite, sulfide or cyanide (in vitro). NA Belongs to the SQRD family. Sulfide oxidation to sulfate PE1 15 +NX_Q9Y6N6 Laminin subunit gamma-3 1575 171227 6.14 0 Basement membrane Cortical malformations occipital Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. NA NA Focal adhesion;ECM-receptor interaction;Toxoplasmosis;Amoebiasis;Pathways in cancer;Small cell lung cancer;Non-integrin membrane-ECM interactions;Laminin interactions;MET activates PTK2 signaling PE1 9 +NX_Q9Y6N7 Roundabout homolog 1 1651 180930 5.7 1 Endoplasmic reticulum-Golgi intermediate compartment membrane;Axon;Cell membrane NA Receptor for SLIT1 and SLIT2 that mediates cellular responses to molecular guidance cues in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development (PubMed:10102268, PubMed:24560577). Interaction with the intracellular domain of FLRT3 mediates axon attraction towards cells expressing NTN1 (PubMed:24560577). In axon growth cones, the silencing of the attractive effect of NTN1 by SLIT2 may require the formation of a ROBO1-DCC complex (By similarity). Plays a role in the regulation of cell migration via its interaction with MYO9B; inhibits MYO9B-mediated stimulation of RHOA GTPase activity, and thereby leads to increased levels of active, GTP-bound RHOA (PubMed:26529257). May be required for lung development (By similarity). Ubiquitinated. May be deubiquitinated by USP33. Belongs to the immunoglobulin superfamily. ROBO family. Axon guidance;Netrin-1 signaling;Signaling by ROBO receptors;Activation of RAC1;Inactivation of CDC42 and RAC1;Role of ABL in ROBO-SLIT signaling;Regulation of commissural axon pathfinding by SLIT and ROBO;Regulation of expression of SLITs and ROBOs;SLIT2:ROBO1 increases RHOA activity;Regulation of cortical dendrite branching PE1 3 +NX_Q9Y6N8 Cadherin-10 788 88451 4.83 1 Cell membrane NA Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. NA NA Adherens junctions interactions PE1 5 +NX_Q9Y6N9 Harmonin 552 62211 5.36 0 Cytosol;Microvillus;Cytoskeleton Deafness, autosomal recessive, 18A;Usher syndrome 1C Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips (PubMed:24725409, PubMed:26812018). NA NA NA PE1 11 +NX_Q9Y6P5 Sestrin-1 492 56557 5.68 0 Nucleoplasm;Nucleolus;Cytoplasm;Nucleus NA Functions as an intracellular leucine sensor that negatively regulates the TORC1 signaling pathway through the GATOR complex. In absence of leucine, binds the GATOR subcomplex GATOR2 and prevents TORC1 signaling. Binding of leucine to SESN2 disrupts its interaction with GATOR2 thereby activating the TORC1 signaling pathway (PubMed:25263562, PubMed:26449471). This stress-inducible metabolic regulator may also play a role in protection against oxidative and genotoxic stresses (By similarity). May positively regulate the transcription by NFE2L2 of genes involved in the response to oxidative stress by facilitating the SQSTM1-mediated autophagic degradation of KEAP1 (PubMed:23274085). May have an alkylhydroperoxide reductase activity born by the N-terminal domain of the protein (By similarity). Was originally reported to contribute to oxidative stress resistance by reducing PRDX1 (PubMed:15105503). However, this could not be confirmed (By similarity). NA Belongs to the sestrin family. p53 signaling pathway;TP53 Regulates Metabolic Genes PE1 6 +NX_Q9Y6Q1 Calpain-6 641 74576 6.62 0 Cytoplasmic vesicle;Spindle;Perinuclear region NA Microtubule-stabilizing protein that may be involved in the regulation of microtubule dynamics and cytoskeletal organization. May act as a regulator of RAC1 activity through interaction with ARHGEF2 to control lamellipodial formation and cell mobility. Does not seem to have protease activity as it has lost the active site residues (By similarity). NA Belongs to the peptidase C2 family. Degradation of the extracellular matrix PE1 X +NX_Q9Y6Q2 Stonin-1 735 83141 5.82 0 Membrane;Cytoplasm NA May be involved in the endocytic machinery. NA Belongs to the Stoned B family. Cargo recognition for clathrin-mediated endocytosis;Clathrin-mediated endocytosis PE1 2 +NX_Q9Y6Q3 Zinc finger protein 37 homolog 630 71209 9.26 0 Nucleoplasm;Nucleus;Cytoplasmic vesicle NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. Generic Transcription Pathway PE1 9 +NX_Q9Y6Q5 AP-1 complex subunit mu-2 423 48108 8.23 0 Golgi apparatus;Cytoplasmic vesicle;Clathrin-coated vesicle membrane NA Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. Phosphorylation of membrane-bound AP1M1/AP1M2 increases its affinity for sorting signals. Belongs to the adaptor complexes medium subunit family. Lysosome;MHC class II antigen presentation;Golgi Associated Vesicle Biogenesis;Lysosome Vesicle Biogenesis;Nef mediated downregulation of MHC class I complex cell surface expression PE1 19 +NX_Q9Y6Q6 Tumor necrosis factor receptor superfamily member 11A 616 66034 5.21 1 Cytosol;Cell membrane Familial expansile osteolysis;Osteopetrosis, autosomal recessive 7;Paget disease of bone 2, early-onset Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis. Involved in the regulation of interactions between T-cells and dendritic cells. NA NA Cytokine-cytokine receptor interaction;Osteoclast differentiation;Rheumatoid arthritis;TNFR2 non-canonical NF-kB pathway;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway PE1 18 +NX_Q9Y6Q9 Nuclear receptor coactivator 3 1424 155293 7.16 0 Nucleoplasm;Cytosol;Cytoplasm;Nucleus NA Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Plays a central role in creating a multisubunit coactivator complex, which probably acts via remodeling of chromatin. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ER), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Displays histone acetyltransferase activity. Also involved in the coactivation of the NF-kappa-B pathway via its interaction with the NFKB1 subunit. Methylated by CARM1.;Acetylated by CREBBP. Acetylation occurs in the RID domain, and disrupts the interaction with nuclear receptors and regulates its function.;Phosphorylated by IKK complex. Regulated its function. Phosphorylation at Ser-601 by CK1 promotes coactivator function.;NCOA3 is phosphorylated by IKBKB (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);NCOA3 is phosphorylated by PRKCZ (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255);NCOA3 is phosphorylated by CHUK (Phosphoserine,Phosphothreonine,Phosphotyrosine:PTM-0253,PTM-0254,PTM-0255) Belongs to the SRC/p160 nuclear receptor coactivator family. MAPK6/MAPK4 signaling;PPARA activates gene expression;Transcriptional regulation of white adipocyte differentiation;Activation of anterior HOX genes in hindbrain development during early embryogenesis;Estrogen-dependent gene expression PE1 20 +NX_Q9Y6R0 Numb-like protein 609 64891 9.1 0 Cytoplasm NA Plays a role in the process of neurogenesis. Required throughout embryonic neurogenesis to maintain neural progenitor cells, also called radial glial cells (RGCs), by allowing their daughter cells to choose progenitor over neuronal cell fate. Not required for the proliferation of neural progenitor cells before the onset of embryonic neurogenesis. Also required postnatally in the subventricular zone (SVZ) neurogenesis by regulating SVZ neuroblasts survival and ependymal wall integrity. Negative regulator of NF-kappa-B signaling pathway. The inhibition of NF-kappa-B activation is mediated at least in part, by preventing MAP3K7IP2 to interact with polyubiquitin chains of TRAF6 and RIPK1 and by stimulating the 'Lys-48'-linked polyubiquitination and degradation of TRAF6 in cortical neurons. NA NA Notch signaling pathway PE1 19 +NX_Q9Y6R1 Electrogenic sodium bicarbonate cotransporter 1 1079 121461 6.35 12 Basolateral cell membrane Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation May have a higher activity than isoform 1.;Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH. N-glycosylation is not necessary for the transporter basic functions.;Phosphorylation of Ser-1026 by PKA increases the binding of CA2 and changes the Na(+):HCO3(-) stoichiometry of the transporter from 3:1 to 2:1. Phosphorylated in presence of STK39 and dephosphorylated in presence of PP1 phosphatase; phosphorylation seems to inhibit SLC4A4 activity. Belongs to the anion exchanger (TC 2.A.31) family. Proximal tubule bicarbonate reclamation;Pancreatic secretion;Bile secretion;Bicarbonate transporters;Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) PE1 4 +NX_Q9Y6R4 Mitogen-activated protein kinase kinase kinase 4 1608 181685 5.94 0 Cytosol;Perinuclear region NA Component of a protein kinase signal transduction cascade. Activates the CSBP2, P38 and JNK MAPK pathways, but not the ERK pathway. Specifically phosphorylates and activates MAP2K4 and MAP2K6. NA Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. MAPK signaling pathway;GnRH signaling pathway PE1 6 +NX_Q9Y6R6 Zinc finger protein 780B 833 96807 9.17 0 Nucleus NA May be involved in transcriptional regulation. NA Belongs to the krueppel C2H2-type zinc-finger protein family. NA PE1 19 +NX_Q9Y6R7 IgGFc-binding protein 5405 572017 5.14 0 Golgi apparatus;Secreted;Cytoskeleton;Cell membrane NA May be involved in the maintenance of the mucosal structure as a gel-like component of the mucosa. NA NA NA PE1 19 +NX_Q9Y6R9 Coiled-coil domain-containing protein 61 512 57368 10.27 0 Nucleoplasm NA NA NA NA NA PE1 19 +NX_Q9Y6S9 Ribosomal protein S6 kinase-like 1 549 60036 7.06 0 Nucleoplasm NA NA NA Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. S6 kinase subfamily. NA PE1 14 +NX_Q9Y6T7 Diacylglycerol kinase beta 804 90595 8.11 0 Cytoplasm NA Exhibits high phosphorylation activity for long-chain diacylglycerols. NA Belongs to the eukaryotic diacylglycerol kinase family. Glycerolipid metabolism;Glycerophospholipid metabolism;Metabolic pathways;Phosphatidylinositol signaling system;Effects of PIP2 hydrolysis PE1 7 +NX_Q9Y6U3 Adseverin 715 80489 5.5 0 Podosome;Cell membrane;Cytoskeleton NA Ca(2+)-dependent actin filament-severing protein that has a regulatory function in exocytosis by affecting the organization of the microfilament network underneath the plasma membrane (PubMed:8547642, PubMed:26365202). Severing activity is inhibited by phosphatidylinositol 4,5-bis-phosphate (PIP2) (By similarity). In vitro, also has barbed end capping and nucleating activities in the presence of Ca(2+). Required for megakaryocyte differentiation, maturation, polyploidization and apoptosis with the release of platelet-like particles (PubMed:11568009). Plays a role in osteoclastogenesis (OCG) and actin cytoskeletal organization in osteoclasts (By similarity). Regulates chondrocyte proliferation and differentiation (By similarity). Inhibits cell proliferation and tumorigenesis. Signaling is mediated by MAPK, p38 and JNK pathways (PubMed:11568009). NA Belongs to the villin/gelsolin family. Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton PE1 7 +NX_Q9Y6U7 RING finger protein 215 377 41101 8.98 2 Membrane;Nucleolus;Cytoskeleton NA NA NA NA NA PE2 22 +NX_Q9Y6V0 Protein piccolo 5142 560699 6.07 0 Presynaptic active zone;Nucleus speckle;Cell membrane Pontocerebellar hypoplasia 3 Scaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released (By similarity). After synthesis, participates in the formation of Golgi-derived membranous organelles termed Piccolo-Bassoon transport vesicles (PTVs) that are transported along axons to sites of nascent synaptic contacts (By similarity). At the presynaptic active zone, regulates the spatial organization of synaptic vesicle cluster, the protein complexes that execute membrane fusion and compensatory endocytosis (By similarity). Organizes as well the readily releasable pool of synaptic vesicles and safeguards a fraction of them to be not immediately available for action potential-induced release (By similarity). Functions also in processes other than assembly such as the regulation of specific presynaptic protein ubiquitination by interacting with SIAH1 or the regulation of presynaptic autophagy (By similarity). Mediates also synapse to nucleus communication leading to reconfiguration of gene expression by associating with the transcriptional corepressor CTBP1 and by subsequently reducing the size of its pool available for nuclear import (By similarity). NA NA NA PE1 7 +NX_Q9Y6V7 Probable ATP-dependent RNA helicase DDX49 483 54226 9.21 0 Mitochondrion;Nucleolus NA NA NA Belongs to the DEAD box helicase family. DDX49/DBP8 subfamily. rRNA modification in the nucleus and cytosol;Major pathway of rRNA processing in the nucleolus and cytosol PE1 19 +NX_Q9Y6W3 Calpain-7 813 92652 7.55 0 Nucleus NA Calcium-regulated non-lysosomal thiol-protease. NA Belongs to the peptidase C2 family. Degradation of the extracellular matrix PE1 3 +NX_Q9Y6W5 Wiskott-Aldrich syndrome protein family member 2 498 54284 5.38 0 Cytoplasm;Cell membrane;Lamellipodium;Cytosol;Cytoskeleton NA Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex. NA Belongs to the SCAR/WAVE family. Adherens junction;Fc gamma R-mediated phagocytosis;Regulation of actin cytoskeleton;Bacterial invasion of epithelial cells;Shigellosis;Salmonella infection;Regulation of actin dynamics for phagocytic cup formation;RHO GTPases Activate WASPs and WAVEs;VEGFA-VEGFR2 Pathway PE1 1 +NX_Q9Y6W6 Dual specificity protein phosphatase 10 482 52642 7.87 0 Golgi apparatus;Cytoplasm;Nucleoplasm;Cytosol;Nucleus NA Protein phosphatase involved in the inactivation of MAP kinases. Has a specificity for the MAPK11/MAPK12/MAPK13/MAPK14 subfamily. It preferably dephosphorylates p38. NA Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. MAPK signaling pathway;RAF-independent MAPK1/3 activation;Negative regulation of MAPK pathway PE1 1 +NX_Q9Y6W8 Inducible T-cell costimulator 199 22625 9.01 1 Secreted;Cell membrane;Cytoskeleton Immunodeficiency, common variable, 1 Enhances all basic T-cell responses to a foreign antigen, namely proliferation, secretion of lymphokines, up-regulation of molecules that mediate cell-cell interaction, and effective help for antibody secretion by B-cells. Essential both for efficient interaction between T and B-cells and for normal antibody responses to T-cell dependent antigens. Does not up-regulate the production of interleukin-2, but superinduces the synthesis of interleukin-10. Prevents the apoptosis of pre-activated T-cells. Plays a critical role in CD40-mediated class switching of immunoglobin isotypes (By similarity). N-glycosylated. NA Cell adhesion molecules (CAMs);T cell receptor signaling pathway;Intestinal immune network for IgA production;Primary immunodeficiency;PIP3 activates AKT signaling;Constitutive Signaling by Aberrant PI3K in Cancer;Costimulation by the CD28 family;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling PE1 2 +NX_Q9Y6X0 SET-binding protein 1596 175008 9.76 0 Nucleoplasm;Cytosol;Nucleus Leukemia, juvenile myelomonocytic;Myelodysplastic syndrome;Leukemia, chronic myeloid, atypical;Schinzel-Giedion midface retraction syndrome;Leukemia, acute myelogenous;Mental retardation, autosomal dominant 29 NA NA NA NA PE1 18 +NX_Q9Y6X1 Stress-associated endoplasmic reticulum protein 1 66 7374 11.01 1 Membrane;Endoplasmic reticulum;Endoplasmic reticulum membrane;Cell membrane NA Interacts with target proteins during their translocation into the lumen of the endoplasmic reticulum. Protects unfolded target proteins against degradation during ER stress. May facilitate glycosylation of target proteins after termination of ER stress. May modulate the use of N-glycosylation sites on target proteins (By similarity). NA Belongs to the RAMP4 family. XBP1(S) activates chaperone genes;Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PE1 3 +NX_Q9Y6X2 E3 SUMO-protein ligase PIAS3 628 68017 7.81 0 Nucleoplasm;Cytoplasm;Nucleus speckle;Nucleus NA Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway and the steroid hormone signaling pathway. Involved in regulating STAT3 signaling via inhibiting STAT3 DNA-binding and suppressing cell growth. Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation (PubMed:21965678, PubMed:9388184). Sumoylates CCAR2 which promotes its interaction with SIRT1 (PubMed:25406032). Diminishes the sumoylation of ZFHX3 by preventing the colocalization of ZFHX3 with SUMO1 in the nucleus (PubMed:24651376). Sumoylated. Belongs to the PIAS family. Protein modification; protein sumoylation.;Ubiquitin mediated proteolysis;Jak-STAT signaling pathway;Hepatitis C;Pathways in cancer;Small cell lung cancer;Formation of Incision Complex in GG-NER;SUMOylation of DNA replication proteins;SUMOylation of transcription factors;SUMOylation of intracellular receptors;SUMOylation of transcription cofactors;SUMOylation of immune response proteins PE1 1 +NX_Q9Y6X3 MAU2 chromatid cohesion factor homolog 613 69082 6.84 0 Nucleoplasm;Nucleus;Chromosome NA Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with NIPBL/SCC2 which mediates the loading of the cohesin complex onto chromatin (PubMed:28167679, PubMed:22628566). Plays a role in sister chromatid cohesion and normal progression through prometaphase (PubMed:16802858, PubMed:16682347). NA Belongs to the SCC4/mau-2 family. Cohesin Loading onto Chromatin PE1 19 +NX_Q9Y6X4 Soluble lamin-associated protein of 75 kDa 670 74955 4.52 0 Nucleus inner membrane;Cytosol;Nucleus envelope;Nucleus membrane NA NA NA Belongs to the FAM169 family. NA PE1 5 +NX_Q9Y6X5 Bis(5'-adenosyl)-triphosphatase ENPP4 453 51641 5.71 1 Cell membrane NA Hydrolyzes extracellular Ap3A into AMP and ADP, and Ap4A into AMP and ATP. Ap3A and Ap4A are diadenosine polyphosphates thought to induce proliferation of vascular smooth muscle cells. Acts as a procoagulant, mediating platelet aggregation at the site of nascent thrombus via release of ADP from Ap3A and activation of ADP receptors. NA Belongs to the nucleotide pyrophosphatase/phosphodiesterase family. Neutrophil degranulation PE1 6 +NX_Q9Y6X6 Unconventional myosin-XVI 1858 206129 6.37 0 Cytoplasm;Cytoplasmic vesicle NA Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. May be involved in targeting of the catalytic subunit of protein phosphatase 1 during brain development. Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis (By similarity). Phosphorylated on tyrosine residues by FYN upon stimulation with CNTN5. In the N-terminal section; belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.;In the C-terminal section; belongs to the NYAP family. NA PE1 13 +NX_Q9Y6X8 Zinc fingers and homeoboxes protein 2 837 92307 6.42 0 Nucleoplasm;Nucleus NA Acts as a transcriptional repressor (PubMed:12741956). Represses the promoter activity of the CDC25C gene stimulated by NFYA (PubMed:12741956). May play a role in retinal development where it regulates the composition of bipolar cell populations, by promoting differentiation of bipolar OFF-type cells (By similarity). In the brain, may promote maintenance and suppress differentiation of neural progenitor cells in the developing cortex (By similarity). NA Belongs to the ZHX family. NA PE1 8 +NX_Q9Y6X9 ATPase MORC2 1032 117823 8.6 0 Nucleus matrix;Chromosome;Nucleoplasm;Cytosol;Nucleus Charcot-Marie-Tooth disease 2Z Essential for epigenetic silencing by the HUSH (human silencing hub) complex. Recruited by HUSH to target site in heterochromatin, the ATPase activity and homodimerization are critical for HUSH-mediated silencing (PubMed:28581500, PubMed:29440755). Represses germ cell-related genes and L1 retrotransposons in collaboration with SETDB1 and the HUSH complex, the silencing is dependent of repressive epigenetic modifications, such as H3K9me3 mark. Silencing events often occur within introns of transcriptionally active genes, and lead to the down-regulation of host gene expression (PubMed:29211708). During DNA damage response, regulates chromatin remodeling through ATP hydrolysis. Upon DNA damage, is phosphorylated by PAK1, both colocalize to chromatin and induce H2AFX expression. ATPase activity is required and dependent of phosphorylation by PAK1 and presence of DNA (PubMed:23260667). Recruits histone deacetylases, such as HDAC4, to promoter regions, causing local histone H3 deacetylation and transcriptional repression of genes such as CA9 (PubMed:20225202, PubMed:20110259). Exhibits a cytosolic function in lipogenesis, adipogenic differentiation, and lipid homeostasis by increasing the activity of ACLY, possibly preventing its dephosphorylation (PubMed:24286864). Phosphorylated by PAK1 at Ser-739 upon DNA damage. Phosphorylation is required for ATPase activity and recruitment to damaged chromatin. NA Fatty acyl-CoA biosynthesis PE1 22 +NX_Q9Y6Y0 Influenza virus NS1A-binding protein 642 71729 5.33 0 Nucleoplasm;Cytosol;Cytoplasm;Cytoskeleton NA Involved in many cell functions, including pre-mRNA splicing, the aryl hydrocarbon receptor (AHR) pathway, F-actin organization and protein ubiquitination. Plays a role in the dynamic organization of the actin skeleton as a stabilizer of actin filaments by association with F-actin through Kelch repeats (By similarity). Protects cells from cell death induced by actin destabilization (By similarity). Functions as modifier of the AHR/Aryl hydrocarbon receptor pathway increasing the concentration of AHR available to activate transcription (PubMed:16582008). In addition, functions as a negative regulator of BCR(KLHL20) E3 ubiquitin ligase complex to prevent ubiquitin-mediated proteolysis of PML and DAPK1, two tumor suppressors (PubMed:25619834). Inhibits pre-mRNA splicing (in vitro) (PubMed:9696811).;(Microbial infection) Involved in the alternative splicing of influenza A virus M1 mRNA through interaction with HNRNPK, thereby facilitating the generation of viral M2 protein. NA NA Influenza A PE1 1